diff --git a/.gitignore b/.gitignore index 4749394..8d77208 100644 --- a/.gitignore +++ b/.gitignore @@ -2,6 +2,7 @@ # SPDX-License-Identifier: Apache-2.0 .vscode +AGENTS.md # pixi environments .pixi @@ -13,6 +14,7 @@ __pycache__ *.pyo *.pyd *.pyw +__MACOSX # environments .pyenv @@ -21,14 +23,7 @@ __pycache__ credentials/ # data -data/articles/ -data/variantAnnotations/ -data/unique_pmcids.json -data/pmid_list.json -data/downloaded_pmcids.json -data/markdown -data/extractions/ -data/lookup_data/ +data/* *.zip *.tar.gz diff --git a/data/annotations/PMC11730665.json b/data/annotations/PMC11730665.json deleted file mode 100644 index f284f97..0000000 --- a/data/annotations/PMC11730665.json +++ /dev/null @@ -1,291 +0,0 @@ -{ - "pmcid": "PMC11730665", - "title": "Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis", - "study_parameters": { - "summary": { - "content": "The study aimed to compare the efficacy and safety of sitagliptin versus gliclazide, both combined with metformin, in treatment-naive patients with type 2 diabetes mellitus and glucotoxicity. Conducted as a single-center, randomized, controlled noninferiority trial, it involved 129 participants who received either sitagliptin or gliclazide for 4 weeks, followed by metformin monotherapy for 8 weeks. Results demonstrated that sitagliptin was noninferior to gliclazide in reducing glycated hemoglobin levels, with sitagliptin achieving faster glycemic targets and greater weight reductions, while genetic polymorphisms significantly influenced drug efficacy, underscoring the importance of personalized medicine.", - "citations": [ - "Sitagliptin combined with metformin is noninferior to gliclazide combined with metformin in treatment-naive patients with T2DM with glucotoxicity.", - "The sitagliptin group achieved faster glycemic targets, greater FPG and body weight reductions, and higher rates of FPG < 6.1 mmol/L (26.2% vs 5.7%; P = .012).", - "Genetic polymorphisms significantly affect drug efficacy, highlighting the importance of personalized medicine." - ] - }, - "study_type": { - "content": "Clinical trial, GWAS, Prospective", - "citations": [ - "This single-center, prospective, randomized, controlled, noninferiority study, which is of utmost importance, included treatment-naive patients with T2DM.", - "Whole genome analysis techniques were employed to investigate the impact of genetic polymorphisms on drug efficacy and safety.", - "Manhattan plot displaying the genome-wide association results for HbA1c improvement in treatment-naive patients with T2DM." - ] - }, - "participant_info": { - "content": [ - "**Age Range:** 18 to 70 years", - "**Gender (Study Group):** 47 males, 14 females", - "**Gender (Control Group):** 33 males, 20 females", - "**Body Mass Index (BMI) Range:** 18 to 30 kg/m\u00b2", - "**Ethnicity:** Not specified", - "**Pre-existing Conditions:** Normal hepatic and renal function; no history of type 1 diabetes, severe ketosis, ketoacidosis, hyperosmolar hyperglycemic state, pancreatitis, pancreatic surgery, major systemic diseases, severe anemia, malignancies, psychiatric disorders, or allergies to sitagliptin or gliclazide", - "**Fasting Plasma Glucose (FPG):** \u2265 200 mg/dL (11.1 mmol/L)", - "**Glycated Hemoglobin (HbA1c):** \u2265 9.0%" - ], - "citations": [ - "The inclusion criteria are given as follows: demonstrably understand the study objectives with voluntary participation, documented by signed informed consent; newly diagnosed, treatment-naive individuals with T2DM; the age range is between 18 and 70 years, with a body mass index (BMI) ranging from 18 to 30 kg/m\u00b2; normal hepatic and renal function, defined as alanine aminotransferase and aspartate aminotransferase levels not exceeding 2.5\u00d7 the upper limit of normal, serum creatinine within normal limits, and urine ketone bodies not exceeding (1+); fasting plasma glucose (FPG) levels \u2265 200 mg/dL (11.1 mmol/L) and glycated hemoglobin (HbA1c) \u2265 9.0%; and capability to adhere to the prescribed antidiabetic regimen, follow dietary guidelines, and self-monitor fasting and postprandial blood glucose levels.", - "Exclusion criteria included the following: a diagnosis of type 1 diabetes mellitus; hepatic or renal dysfunction indicated by serum creatinine levels above 1.2\u00d7 the upper limit of normal; previous use of hypoglycemic medications before screening; a history of severe ketosis, ketoacidosis, or hyperosmolar hyperglycemic state; ongoing treatment with corticosteroids, immunosuppressive agents, or cytotoxic drugs or a history of pancreatitis or pancreatic surgery; major systemic diseases such as cardiovascular, respiratory, gastrointestinal, neurological, endocrine, or genitourinary disorders, severe anemia, malignancies, psychiatric disorders, or other conditions likely to interfere with study results; pregnant or breastfeeding women; known allergies to sitagliptin or gliclazide; and poor compliance potential as assessed by the investigator, which may preclude completion of study requirements.", - "## Table 1. Baseline data characteristics of patients in the 2 groups (x\u0304\u00b1s)." - ] - }, - "study_design": { - "content": [ - "**Study Design:** Single-center, prospective, randomized, controlled, noninferiority trial.", - "**Study Population:** Treatment-naive patients with type 2 diabetes mellitus (T2DM) and glucotoxicity.", - "**Sample Size:** 129 participants were randomized; 66 in the sitagliptin plus metformin group and 63 in the gliclazide plus metformin group.", - "**Inclusion Criteria:** Newly diagnosed, treatment-naive individuals with T2DM, aged 18-70 years, BMI 18-30 kg/m\u00b2, FPG \u2265 200 mg/dL, HbA1c \u2265 9.0%.", - "**Exclusion Criteria:** Type 1 diabetes, hepatic or renal dysfunction, prior hypoglycemic medication use, severe ketosis history, and poor compliance potential.", - "**Intervention:** Sitagliptin (100 mg daily) plus metformin (500 mg 3\u00d7 daily) for 4 weeks, followed by metformin monotherapy for 8 weeks.", - "**Control:** Gliclazide MR (2 mg daily) plus metformin (500 mg 3\u00d7 daily) for 4 weeks, followed by metformin monotherapy for 8 weeks.", - "**Follow-up Protocol:** Regular follow-ups at weeks 2, 4, 8, and 12, with weekly telephone contact to document hypoglycemic events and adverse effects.", - "**Primary Endpoint:** Change in HbA1c from baseline to week 12.", - "**Secondary Endpoints:** Changes in FPG, body weight, BMI, and achievement of specific glycemic targets." - ], - "citations": [ - "This single-center, prospective, randomized, controlled, noninferiority study, which is of utmost importance, included treatment-naive patients with T2DM.", - "The inclusion criteria are given as follows: demonstrably understand the study objectives with voluntary participation, documented by signed informed consent; newly diagnosed, treatment-naive individuals with T2DM; the age range is between 18 and 70 years, with a body mass index (BMI) ranging from 18 to 30 kg/m\u00b2; normal hepatic and renal function, defined as alanine aminotransferase and aspartate aminotransferase levels not exceeding 2.5\u00d7 the upper limit of normal, serum creatinine within normal limits, and urine ketone bodies not exceeding (1+); fasting plasma glucose (FPG) levels \u2265 200 mg/dL (11.1 mmol/L) and glycated hemoglobin (HbA1c) \u2265 9.0%; and capability to adhere to the prescribed antidiabetic regimen, follow dietary guidelines, and self-monitor fasting and postprandial blood glucose levels.", - "In the intervention arm, participants were administered sitagliptin phosphate (100 mg daily, manufactured by Merck) and metformin (500 mg 3\u00d7 daily, orally manufactured by Bristol Myers Squibb) for 4 weeks. Following this phase, participants were transitioned to monotherapy with metformin for an additional 8 weeks. Conversely, the control group received gliclazide MR (2 mg daily, orally, manufactured by Sanofi) combined with metformin (500 mg 3\u00d7 daily, orally, manufactured by Bristol Myers Squibb) for 4 weeks, after which they too were transitioned to monotherapy with metformin for 8 weeks." - ] - }, - "study_results": { - "content": [ - "**Mean glycated hemoglobin reduction:** 4.03% in the sitagliptin group and 4.13% in the gliclazide group, with a mean difference of \u22120.097 (95% CI, \u22120.648 to 0.453), confirming noninferiority.", - "**FPG reduction at 4 weeks:** Significant in both groups (*P* < .05).", - "**FPG < 6.1 mmol/L achievement rate:** 26.2% in the sitagliptin group vs 5.7% in the gliclazide group (*P* = .012).", - "**Body weight reduction:** Greater in the sitagliptin group compared to the gliclazide group (*P* = .009).", - "**\u03b2-cell function and hypoglycemia incidence:** No significant differences between groups (*P* > .05).", - "**Genetic polymorphisms affecting sitagliptin efficacy:** DPP-4 rs2909451 TT and rs4664443 GG genotypes showed lower efficacy, while GLP1R rs3765467 AG and KCNJ11 rs2285676 CC genotypes responded better to sitagliptin." - ], - "citations": [ - "After 12 weeks, mean glycated hemoglobin reductions were 4.03% in the sitagliptin group and 4.13% in the gliclazide group, with a mean difference of \u22120.097 (95% confidence interval, \u22120.648 to 0.453), confirming noninferiority.", - "Both groups showed significant FPG reductions at 4 weeks (P < .05).", - "The sitagliptin group achieved faster glycemic targets, greater FPG and body weight reductions, and higher rates of FPG < 6.1 mmol/L (26.2% vs 5.7%; P = .012)." - ] - }, - "allele_frequency": { - "content": [ - "**rs2909451 TT genotype frequency in study group:** Not explicitly provided.", - "**rs4664443 GG genotype frequency in study group:** Not explicitly provided.", - "**rs6923761 AA genotype frequency in study group:** Not explicitly provided.", - "**rs3765467 AG genotype frequency in study group:** Not explicitly provided.", - "**rs163184 GG allele frequency in study group:** Not explicitly provided.", - "**rs2285676 CC genotype frequency in study group:** Not explicitly provided.", - "**rs7754840 CG genotype frequency in study group:** Not explicitly provided.", - "**rs756992 AG genotype frequency in study group:** Not explicitly provided.", - "**rs1799853 TT genotype frequency in study group:** Not explicitly provided.", - "**rs1057910 GG genotype frequency in study group:** Not explicitly provided." - ], - "citations": [ - "The analysis revealed significant effects of DPP-4 gene polymorphisms on the efficacy of sitagliptin.", - "Genotypes at target loci, including DPP-4, GLP1R, KCNQ1, KCNJ11, CDKAL1, CYP2C9, and CYP2C19, were ascertained for each participant.", - "## Table 6. Comparison of the median (IQR) glycated hemoglobin improvement and P values between the study group and control group across different genotypes." - ] - }, - "additional_resource_links": [ - "The study provides the following additional resources or links related to its design and execution:", - "- [DOI link to the article](https://doi.org/10.1097/MD.0000000000041061)", - "- [PubMed Central (PMC) link to the article](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730665/)", - "- [PDF version of the article](https://pmc.ncbi.nlm.nih.gov/articles/PMC11730665/pdf/medi-104-e41061.pdf)" - ] - }, - "annotations": { - "relationships": [ - { - "gene": "DPP-4", - "polymorphism": { - "value": "rs2909451", - "link": "https://www.clinpgx.org/variant/PA166368461" - }, - "drug": { - "value": "Sitagliptin", - "link": "https://www.clinpgx.org/chemical/PA164748978" - }, - "relationship_effect": "TT genotype associated with lower efficacy of sitagliptin (smaller HbA1c improvement) compared to gliclazide.", - "p_value": "<.001", - "citations": [ - "The analysis revealed significant effects of DPP-4 gene polymorphisms on the efficacy of sitagliptin.", - "Patients with the rs2909451 TT genotype in the study group (treated with sitagliptin) exhibited a median HbA1c improvement of 0.57 (interquartile range [IQR], 0.18\u20130.85), whereas the control group (treated with gliclazide) showed a median improvement of 1.11 (IQR, 0.86\u20131.35; *P*P < .001).", - "## Table 6: Comparison of the median (IQR) glycated hemoglobin improvement and P values between the study group and control group across different genotypes." - ], - "p_value_citations": [] - }, - { - "gene": "DPP-4", - "polymorphism": { - "value": "rs4664443", - "link": "https://www.clinpgx.org/variant/PA166393941" - }, - "drug": { - "value": "Sitagliptin", - "link": "https://www.clinpgx.org/chemical/PA164748978" - }, - "relationship_effect": "GG genotype associated with lower efficacy of sitagliptin (smaller HbA1c improvement) compared to gliclazide.", - "p_value": "<.001", - "citations": [ - "Similarly, for the rs4664443 GG genotype, the median HbA1c improvement in the study group was 0.69 (IQR, 0.48\u20130.91) compared with 1.25 (IQR, 1.00\u20131.46) in the control group (*P*P < .001), indicating lower efficacy of sitagliptin.", - "## Table 6: Comparison of the median (IQR) glycated hemoglobin improvement and P values between the study group and control group across different genotypes.", - "Genetic polymorphisms, such as DPP-4 rs2909451 TT and rs4664443 GG, significantly influenced the efficacy of sitagliptin, highlighting the importance of personalized medicine." - ], - "p_value_citations": [] - }, - { - "gene": "GLP1R", - "polymorphism": { - "value": "rs6923761", - "link": "https://www.clinpgx.org/variant/PA166157117" - }, - "drug": { - "value": "Sitagliptin", - "link": "https://www.clinpgx.org/chemical/PA164748978" - }, - "relationship_effect": "AA genotype associated with reduced glycemic response to sitagliptin (smaller HbA1c improvement) compared to gliclazide.", - "p_value": ".010", - "citations": [ - "Regarding GLP1R gene polymorphisms, patients with the rs6923761 AA homozygous genotype in the study group had a median HbA1c improvement of 0.90 (IQR, 0.61\u20131.01), while the control group showed 1.41 (IQR, 1.12\u20131.45; *P*P = .010), suggesting reduced glycemic response to sitagliptin.", - "## Table 6: Comparison of the median (IQR) glycated hemoglobin improvement and P values between the study group and control group across different genotypes.", - "The analysis revealed significant effects of DPP-4 gene polymorphisms on the efficacy of sitagliptin. Patients with the rs2909451 TT genotype in the study group (treated with sitagliptin) exhibited a median HbA1c improvement of 0.57 (interquartile range [IQR], 0.18\u20130.85), whereas the control group (treated with gliclazide) showed a median improvement of 1.11 (IQR, 0.86\u20131.35; *P*P < .001). Similarly, for the rs4664443 GG genotype, the median HbA1c improvement in the study group was 0.69 (IQR, 0.48\u20130.91) compared with 1.25 (IQR, 1.00\u20131.46) in the control group (*P*P < .001), indicating lower efficacy of sitagliptin." - ], - "p_value_citations": [] - }, - { - "gene": "GLP1R", - "polymorphism": { - "value": "rs3765467", - "link": "https://www.clinpgx.org/variant/PA166182323" - }, - "drug": { - "value": "Sitagliptin", - "link": "https://www.clinpgx.org/chemical/PA164748978" - }, - "relationship_effect": "AG genotype associated with better response to sitagliptin (greater HbA1c improvement) compared to gliclazide.", - "p_value": ".023", - "citations": [ - "Conversely, patients with the rs3765467 AG genotype in the study group demonstrated a median HbA1c improvement of 1.42 (IQR, 1.22\u20131.68) compared with 1.08 (IQR, 0.97\u20131.15) in the control group (*P*P = .023), indicating favorable responses to both treatments.", - "Genetic analysis showed specific single-nucleotide polymorphisms affected drug efficacy: dipeptidyl peptidase-4 rs2909451 TT and rs4664443 GG genotypes showed lower efficacy with sitagliptin, while GLP1R rs3765467 AG and KCNJ11 rs2285676 CC genotypes responded better to sitagliptin." - ], - "p_value_citations": [] - }, - { - "gene": "KCNQ1", - "polymorphism": { - "value": "rs163184", - "link": "https://www.clinpgx.org/variant/PA166202681" - }, - "drug": { - "value": "Sitagliptin", - "link": "https://www.clinpgx.org/chemical/PA164748978" - }, - "relationship_effect": "GG allele associated with lower responsiveness to sitagliptin (smaller HbA1c improvement) and better response to gliclazide.", - "p_value": "<.001", - "citations": [ - "KCNQ1 gene polymorphisms also significantly affected treatment outcomes. Patients with the rs163184 GG allele in the study group had a median HbA1c improvement of 0.81 (IQR, 0.62\u20130.92) compared with 1.16 (IQR, 0.91\u20131.32) in the control group (*P*P < .001), suggesting lower responsiveness to sitagliptin and better response to gliclazide.", - "## Table 6: Comparison of the median (IQR) glycated hemoglobin improvement and P values between the study group and control group across different genotypes.", - "The Manhattan plot shows the overall distribution of single-nucleotide polymorphism associations across the genome, highlighting key loci such as rs2909451, rs4664443, rs163184, and rs2285676, which are strongly associated with differential HbA1c improvements and underscore the genetic influence on therapeutic response (Fig. [6](#F6)6)." - ], - "p_value_citations": [] - }, - { - "gene": "KCNJ11", - "polymorphism": { - "value": "rs2285676", - "link": "https://www.clinpgx.org/variant/PA166368201" - }, - "drug": { - "value": "Sitagliptin", - "link": "https://www.clinpgx.org/chemical/PA164748978" - }, - "relationship_effect": "CC genotype associated with more substantial insulin secretion capability and greater HbA1c improvement with sitagliptin compared to gliclazide.", - "p_value": "<.001", - "citations": [ - "For KCNJ11 gene polymorphisms, patients with the rs2285676 CC genotype in the study group had a median HbA1c improvement of 1.02 (IQR, 0.90\u20131.22), while the control group showed 1.31 (IQR, 1.08\u20131.42; *P*P < .001), indicating more substantial insulin secretion capability with sitagliptin.", - "## Table 6: Comparison of the median (IQR) glycated hemoglobin improvement and P values between the study group and control group across different genotypes.", - "Genetic analysis showed specific single-nucleotide polymorphisms affected drug efficacy: dipeptidyl peptidase-4 rs2909451 TT and rs4664443 GG genotypes showed lower efficacy with sitagliptin, while GLP1R rs3765467 AG and KCNJ11 rs2285676 CC genotypes responded better to sitagliptin." - ], - "p_value_citations": [] - }, - { - "gene": "CDKAL1", - "polymorphism": { - "value": "rs7754840", - "link": "https://www.clinpgx.org/variant/PA166157125" - }, - "drug": { - "value": "Sitagliptin", - "link": "https://www.clinpgx.org/chemical/PA164748978" - }, - "relationship_effect": "CG genotype associated with greater HbA1c reduction in the sitagliptin group compared to gliclazide.", - "p_value": ".053", - "citations": [ - "CDKAL1 gene variants, specifically rs7754840 CG and rs756992 AG, were associated with more significant HbA1c reductions in the study group.", - "Patients with the rs7754840 CG genotype showed a median improvement of 1.44 (IQR, 1.38\u20131.72) in the study group compared with 1.09 (IQR, 0.79\u20131.17) in the control group (*P*P = .053).", - "## Table 6: Comparison of the median (IQR) glycated hemoglobin improvement and P values between the study group and control group across different genotypes." - ], - "p_value_citations": [] - }, - { - "gene": "CDKAL1", - "polymorphism": { - "value": "rs756992", - "link": "https://www.clinpgx.org/variant/PA166157126" - }, - "drug": { - "value": "Sitagliptin", - "link": "https://www.clinpgx.org/chemical/PA164748978" - }, - "relationship_effect": "AG genotype associated with greater HbA1c reduction in the sitagliptin group compared to gliclazide.", - "p_value": ".081", - "citations": [ - "CDKAL1 gene variants, specifically rs7754840 CG and rs756992 AG, were associated with more significant HbA1c reductions in the study group.", - "Similarly, patients with the rs756992 AG genotype exhibited a median improvement of 1.43 (IQR, 1.28\u20131.52) in the study group compared with 1.10 (IQR, 0.87\u20131.18) in the control group (*P*P = .081).", - "## Table 6: Comparison of the median (IQR) glycated hemoglobin improvement and P values between the study group and control group across different genotypes." - ], - "p_value_citations": [] - }, - { - "gene": "CYP2C9", - "polymorphism": { - "value": "rs1799853", - "link": "https://www.clinpgx.org/variant/PA166153972" - }, - "drug": { - "value": "Gliclazide", - "link": "https://www.clinpgx.org/chemical/PA10892" - }, - "relationship_effect": "TT genotype associated with slower metabolism of gliclazide, impacting drug efficacy and adverse event rates; greater HbA1c improvement with gliclazide compared to sitagliptin.", - "p_value": "<.001", - "citations": [ - "CYP2C9 gene polymorphisms also significantly influenced treatment efficacy.", - "Patients with the rs1799853 TT genotype in the study group had a median HbA1c improvement of 0.70 (IQR, 0.69\u20130.72), while the control group showed 1.07 (IQR, 0.82\u20131.42; *P*P < .001).", - "## Table 6: Comparison of the median (IQR) glycated hemoglobin improvement and P values between the study group and control group across different genotypes." - ], - "p_value_citations": [] - }, - { - "gene": "CYP2C9", - "polymorphism": { - "value": "rs1057910", - "link": "https://www.clinpgx.org/variant/PA166153959" - }, - "drug": { - "value": "Gliclazide", - "link": "https://www.clinpgx.org/chemical/PA10892" - }, - "relationship_effect": "GG genotype associated with slower metabolism of gliclazide, impacting drug efficacy and adverse event rates; greater HbA1c improvement with gliclazide compared to sitagliptin.", - "p_value": ".464", - "citations": [ - "CYP2C9 gene polymorphisms also significantly influenced treatment efficacy.", - "For the rs1057910 GG genotype, the study group exhibited a median improvement of 0.93 (IQR, 0.66\u20131.21) compared with 1.20 (IQR, 0.89\u20131.30) in the control group (*P*P = .464).", - "These findings suggest that rs1799853 and rs1057910 variants lead to slower metabolism of gliclazide, thereby impacting drug efficacy and adverse event rates (Table [6](#T6)6; Fig. [5](#F5)5)." - ], - "p_value_citations": [] - } - ] - } -} \ No newline at end of file diff --git a/data/annotations/PMC4737107.json b/data/annotations/PMC4737107.json deleted file mode 100644 index 915ad99..0000000 --- a/data/annotations/PMC4737107.json +++ /dev/null @@ -1,481 +0,0 @@ -{ - "pmcid": "PMC4737107", - "title": "Thiopurine dose intensity and treatment outcome in childhood lymphoblastic leukaemia: the influence of thiopurine methyltransferase pharmacogenetics", - "study_parameters": { - "summary": { - "content": "The study aimed to investigate the impact of thiopurine methyltransferase (TPMT) genotype on thiopurine dose intensity, myelosuppression, and treatment outcomes in childhood acute lymphoblastic leukemia (ALL) within the UK ALL97 trial. The researchers analyzed TPMT genotypes, thiopurine metabolite levels, and treatment outcomes in a cohort of children, finding that TPMT heterozygotes, particularly those with the TPMT*1/*3A genotype, had better event-free survival (EFS) compared to wild-type TPMT*1/*1 patients, despite experiencing more frequent cytopenias. The study concluded that thiopurine-induced cytopenias did not negatively affect treatment outcomes, and TPMT*1/*3A heterozygotes had a superior EFS, while TPMT*1/*3C patients had poorer outcomes, potentially due to non-compliance issues.", - "citations": [ - "EFS differed significantly by *TPMT*TPMT genotype (Fig [2](#bjh13240-fig-0002)2).", - "*TPMT*1/*3A*TPMT*1/*3A patients (EFS 88%, 95%CI 81\u201394%) fared significantly better than *TPMT*1/*1*TPMT*1/*1 (EFS 80%, 95%CI 78\u201382%) patients (Fig [2](#bjh13240-fig-0002)2).", - "Within the UK ALL trials, thiopurine\u2010induced cytopenias did not have a detrimental effect on EFS." - ] - }, - "study_type": { - "content": "Cohort, retrospective", - "citations": [ - "The impact of thiopurine methyltransferase (TPMT) genotype on thiopurine dose intensity, myelosuppression and treatment outcome was investigated in the United Kingdom childhood acute lymphoblastic leukaemia (ALL) trial ALL97.", - "Thiopurine metabolites and TPMT data have been previously reported for the thioguanine versus mercaptopurine randomized cohort in the ALL97 trial (Lennard *et al*et al, [2013](#bjh13240-bib-0015)2013).", - "Dose intensity data was available for 818 of the 1334 (61%) children with *TPMT*TPMT genotypes." - ] - }, - "participant_info": { - "content": [ - "**Age:** Participants were aged 1 to 18 years.", - "**Gender:** The study included both male and female participants, with no significant gender differences in thiopurine data availability.", - "**Ethnicity:** Of the 1334 patients with TPMT genotype data, 1160 were white, and 174 belonged to other ethnic groups (71 Asian, 44 mixed race, 20 black, 6 Oriental, and 33 unknown or non-Caucasian).", - "**Pre-existing conditions:** None of the TPMT*1/*3C patients had CNS disease at diagnosis or Down syndrome; two had T-cell immunophenotype.", - "**Study group breakdown:**", - "**TPMT*1/*1 (wild-type):** 1206 patients.", - "**TPMT*1/*3A:** 99 patients.", - "**TPMT*1/*3C:** 17 patients.", - "**Other TPMT variants:** 12 patients with various rare alleles." - ], - "citations": [ - "ALL97 [International Standard Randomized Controlled Trial Number (ISRCTN) registration number ISRCTN26727615] was a randomized comparison of dexamethasone versus prednisone and mercaptopurine versus thioguanine in patients aged 1 to 18 years.", - "*TPMT*TPMT genotype was available for 1334 patients (69% of patients entered onto ALL97); 1160 were white and 174 belonged to other ethnic groups (71 Asian (Indian sub\u2010continent), 44 mixed race, 20 black, 6 Oriental and 33 unknown or non\u2010Caucasian).", - "1206 patients were homozygous wild\u2010type *TPMT*1/*1*TPMT*1/*1 and 128 patients had low activity variant alleles (99 *TPMT*1/*3A*TPMT*1/*3A; 17 *TPMT*1/*3C*TPMT*1/*3C; 4 *TPMT*1/*2*TPMT*1/*2; two children with the rare alleles *TPMT*1/*9*TPMT*1/*9,* TPMT*1/*21* TPMT*1/*21; three children with novel alleles *TPMT*1/*32, TPMT*1/*33, TPMT*1/*34*TPMT*1/*32, TPMT*1/*33, TPMT*1/*34; one compound heterozygote *TPMT*2/*3A*TPMT*2/*3A; one homozygous *TPMT*3A/*3A*TPMT*3A/*3A and one *TPMT*3C/*3C*TPMT*3C/*3C)." - ] - }, - "study_design": { - "content": [ - "**Study Design:** Randomized controlled trial (ALL97) with an add-on thiopurine biological study.", - "**Study Population:** Children aged 1 to 18 years with acute lymphoblastic leukemia (ALL) in the United Kingdom.", - "**Sample Size:** 1334 patients with TPMT genotype data; 1948 total trial participants.", - "**Trial Phases:** ALL97 and ALL97/99, with modifications in November 1999.", - "**Chemotherapy Regimen:** Randomized comparison of dexamethasone versus prednisone and mercaptopurine versus thioguanine.", - "**Maintenance Therapy:** Daily oral thiopurine, weekly methotrexate, monthly vincristine, and 5 days of randomized steroid.", - "**Dose Titration:** Based on cell counts, with adjustments every 4 weeks in ALL97 and every 12 weeks in ALL97/99.", - "**Exclusion Criteria:** High-risk patients, children who relapsed or died during the first year, and those with incomplete thiopurine dosage data.", - "**Data Collection:** Weekly drug dosage and cell counts recorded, with databases capturing thiopurine dosage and cell count information.", - "**TPMT Genotyping:** Conducted using blood samples, with TPMT activity measured and reported to clinicians." - ], - "citations": [ - "ALL97 [International Standard Randomized Controlled Trial Number (ISRCTN) registration number ISRCTN26727615] was a randomized comparison of dexamethasone versus prednisone and mercaptopurine versus thioguanine in patients aged 1 to 18 years.", - "During maintenance patients received daily oral randomized thiopurine, weekly methotrexate, monthly intravenous vincristine and 5 days of randomized steroid.", - "*TPMT*TPMT genotype was available for 1334 patients (69% of patients entered onto ALL97); 1160 were white and 174 belonged to other ethnic groups (71 Asian (Indian sub\u2010continent), 44 mixed race, 20 black, 6 Oriental and 33 unknown or non\u2010Caucasian)." - ] - }, - "study_results": { - "content": [ - "**TPMT heterozygotes**: Had significantly more frequent cytopenias and required dose adjustments more often than TPMT wild-type patients.", - "**5-year EFS for TPMT*1/*3A**: 88%, better than TPMT*1/*1 (80%, P = 0.05) and TPMT*1/*3C (53%, P = 0.002).", - "**Poor compliance**: Associated with worse EFS (P = 0.02).", - "**Escalated doses**: Associated with worse EFS (P = 0.04).", - "**No difference in EFS**: By dose intensity or duration of cytopenias.", - "**TPMT*1/*3C patients**: Had significantly lower TGN concentrations than TPMT*1/*3A despite similar dosages.", - "**Odds ratio for non-compliance with thioguanine**: 2.58 (95% CI: 1.11\u20135.7, P = 0.04).", - "**Hazard ratio for TPMT*1/*3C vs. TPMT*1/*3A**: 4.5 (95% CI: 1.7\u201311.8, P = 0.003).", - "**No association**: Between second cancer and TPMT genotype or thiopurine metabolites." - ], - "citations": [ - "TPMT heterozygotes had significantly more frequent cytopenias and therefore required dose adjustments below target levels significantly more often than TPMT wild\u2010type patients although the average dose range was similar for both genotypes.", - "Event\u2010free survival (EFS) for patients heterozygous for the more common TPMT*1/*3A variant allele (n = 99, 5\u2010year EFS 88%) was better than for both wild\u2010type TPMT*1/*1 (n = 1206, EFS 80%, P = 0\u00b705) and TPMT*1/*3C patients (n = 17, EFS 53%, P = 0\u00b7002); outcomes supported by a multivariate Cox regression analysis.", - "Poor compliance without subsequent clinician intervention was associated with a worse EFS (P = 0\u00b702) and such non\u2010compliance may have contributed to the poorer outcome for TPMT*1/*3C patients." - ] - }, - "allele_frequency": { - "content": [ - "**TPMT*1/*1**: 1206 patients were homozygous wild-type.", - "**TPMT*1/*3A**: 99 patients were heterozygous for this variant allele.", - "**TPMT*1/*3C**: 17 patients were heterozygous for this variant allele.", - "**TPMT*1/*2**: 4 patients were heterozygous for this variant allele.", - "**TPMT*1/*9**: 2 patients had this rare allele.", - "**TPMT*1/*21**: 2 patients had this rare allele.", - "**TPMT*1/*32, *TPMT*1/*33, *TPMT*1/*34**: 3 patients had these novel alleles.", - "**TPMT*2/*3A**: 1 patient was a compound heterozygote.", - "**TPMT*3A/*3A**: 1 patient was homozygous for this variant.", - "**TPMT*3C/*3C**: 1 patient was homozygous for this variant.", - "**TPMT*3B**: This allele was not detected in the study population." - ], - "citations": [ - "*TPMT*TPMT genotype was available for 1334 patients (69% of patients entered onto ALL97); 1160 were white and 174 belonged to other ethnic groups (71 Asian (Indian sub\u2010continent), 44 mixed race, 20 black, 6 Oriental and 33 unknown or non\u2010Caucasian).", - "1206 patients were homozygous wild\u2010type *TPMT*1/*1*TPMT*1/*1 and 128 patients had low activity variant alleles (99 *TPMT*1/*3A*TPMT*1/*3A; 17 *TPMT*1/*3C*TPMT*1/*3C; 4 *TPMT*1/*2*TPMT*1/*2; two children with the rare alleles *TPMT*1/*9*TPMT*1/*9,* TPMT*1/*21* TPMT*1/*21; three children with novel alleles *TPMT*1/*32, TPMT*1/*33, TPMT*1/*34*TPMT*1/*32, TPMT*1/*33, TPMT*1/*34; one compound heterozygote *TPMT*2/*3A*TPMT*2/*3A; one homozygous *TPMT*3A/*3A*TPMT*3A/*3A and one *TPMT*3C/*3C*TPMT*3C/*3C).", - "The *TPMT*3B*TPMT*3B allele was not detected." - ] - }, - "additional_resource_links": [ - "The study provides the following additional resources or links related to its design and execution:", - "- [DOI: 10.1111/bjh.13240](https://doi.org/10.1111/bjh.13240)", - "- [PMID: 25441457](https://www.ncbi.nlm.nih.gov/pubmed/25441457)", - "- [PMCID: PMC4737107](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737107/)", - "- [PDF of the article](https://pmc.ncbi.nlm.nih.gov/articles/PMC4737107/pdf/BJH-169-228.pdf)", - "- [URL to the article on PubMed Central](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737107/)", - "These links provide access to the full text of the article, its metadata, and additional information on PubMed and PubMed Central." - ] - }, - "annotations": { - "relationships": [ - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3A", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*3A heterozygotes had significantly more frequent cytopenias and required dose adjustments below target levels more often than TPMT*1/*1 (wild-type) patients, although the average dose range was similar for both genotypes.", - "p_value": "Not specified", - "citations": [ - "TPMT heterozygotes had significantly more frequent cytopenias and therefore required dose adjustments below target levels significantly more often than TPMT wild\u2010type patients although the average dose range was similar for both genotypes.", - "The TPMT heterozygotes tolerated a significantly lower average daily thiopurine dose than the TPMT wild\u2010type patients and experienced more cytopenias.", - "Comparing the TPMT wild\u2010type (TPMT*1/*1) patients with the TPMT wild\u2010type/variant allele heterozygotes, the former had a higher average dose than the latter (78% versus 70% respectively, P < 0\u00b70002) and experienced less time with the dose withdrawn due to cytopenias (15\u00b75% vs. 20\u00b78% of time respectively, P < 0\u00b7001)." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3A", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*3A heterozygotes had a better 5-year event-free survival (EFS 88%) than TPMT*1/*1 (EFS 80%) and TPMT*1/*3C (EFS 53%) patients.", - "p_value": "vs *1/*1: P=0.05; vs *1/*3C: P=0.002", - "citations": [ - "Event\u2010free survival (EFS) for patients heterozygous for the more common TPMT*1/*3A variant allele (n = 99, 5\u2010year EFS 88%) was better than for both wild\u2010type TPMT*1/*1 (n = 1206, EFS 80%, P = 0\u00b705) and TPMT*1/*3C patients (n = 17, EFS 53%, P = 0\u00b7002); outcomes supported by a multivariate Cox regression analysis.", - "TPMT*1/*3A patients (EFS 88%, 95%CI 81\u201394%) fared significantly better than TPMT*1/*1 (EFS 80%, 95%CI 78\u201382%) patients (Fig [2](#bjh13240-fig-0002)2).", - "In conclusion, TPMT*1/*3A heterozygotes had a better EFS than TPMT wild\u2010type patients." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3C", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*3C heterozygotes had a significantly worse 5-year event-free survival (EFS 53%) compared to TPMT*1/*3A (EFS 88%) and TPMT*1/*1 (EFS 80%) patients.", - "p_value": "vs *1/*3A: P=0.002; vs *1/*1: P=0.03", - "citations": [ - "EFS differed significantly by *TPMT*TPMT genotype (Fig [2](#bjh13240-fig-0002)2). Heterozygous *TPMT*1/*3C*TPMT*1/*3C patients fared worse (5\u2010year EFS, 53%, 95%CI 29\u201377%) compared to the other heterozygous *TPMT*TPMT patients (*TPMT*1/*3A, *1/*2, *1/*21, *1/*9, *1/*32, *1/*33, *1/*34*TPMT*1/*3A, *1/*2, *1/*21, *1/*9, *1/*32, *1/*33, *1/*34; EFS 89%, 95%CI 83\u201395%, *P *P = 0\u00b7002) and homozygous *TPMT*1/*1*TPMT*1/*1 patients (EFS 80%%, 95%CI 78\u201382%, *P *P = 0\u00b703).", - "*TPMT*1/*3A*TPMT*1/*3A patients (EFS 88%, 95%CI 81\u201394%) fared significantly better than *TPMT*1/*1*TPMT*1/*1 (EFS 80%, 95%CI 78\u201382%) patients (Fig [2](#bjh13240-fig-0002)2).", - "In a multivariate Cox regression analysis, the worse survival for *TPMT*1/*3C*TPMT*1/*3C against *TPMT*1/*3A*TPMT*1/*3A (*TPMT*1/*3C*TPMT*1/*3C hazard ratio = 4\u00b75, 95% CI 1\u00b77\u201311\u00b78, *P *P = 0\u00b7003) and for *TPMT*1/*3C*TPMT*1/*3C against *TPMT*1/*1*TPMT*1/*1 and all other *TPMT*TPMT variant heterozygous genotypes (Table [5](#bjh13240-tbl-0005)5) retained significance in models for overall EFS that also included the covariates trial, age group, WBC at diagnosis and steroid randomization." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3C", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine", - "link": "https://www.clinpgx.org/chemical/PA450379" - }, - "relationship_effect": "TPMT*1/*3C patients had significantly lower TGN concentrations than TPMT*1/*3A patients despite similar drug dosages and TPMT activities.", - "p_value": "Median difference 192 pmol (95% CI 10 to 425), P=0.05", - "citations": [ - "Comparisons between *TPMT*TPMT heterozygotes were not possible with thioguanine (only four *TPMT*1/*3C*TPMT*1/*3C children), but within the mercaptopurine cohort *TPMT *1/*3C*TPMT *1/*3C children (*n *n = 12) had significantly lower TGN concentrations than *TPMT *1/*3A*TPMT *1/*3A children (*n *n = 53) despite having similar drug dosages and TPMT activities (Lennard *et al*et al, [2013](#bjh13240-bib-0015)2013); *TPMT *1/*3C*TPMT *1/*3C median TGNs 608 pmol/8 \u00d7 10^8^8 red cells (range 288 to 910) and *TPMT *1/*3A*TPMT *1/*3A median TGNs 802 (range 132 to 2228), median difference 192 pmol (95% confidence interval [CI] 10 to 425), *P *P = 0\u00b705).", - "Despite similar mercaptopurine dosages and TPMT activities, the *TPMT*1/*3C*TPMT*1/*3C patients accumulated significantly less TGNs and lower MeMPN concentrations than *TPMT*1/*3A*TPMT*1/*3A patients; this could indicate an increased frequency of non\u2010adherence and suboptimal metabolite exposure in the *TPMT*1/*3C*TPMT*1/*3C cohort.", - "## Table 1. Thiopurine methyltransferase genotype and metabolite formation" - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3C", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine", - "link": "https://www.clinpgx.org/chemical/PA450379" - }, - "relationship_effect": "TPMT*1/*3C patients had lower MeMPN concentrations than TPMT*1/*3A patients.", - "p_value": "Median difference 2190 pmol (95% CI \u221254 to 5180), P=0.06", - "citations": [ - "MeMPN concentrations were also lower in *TPMT *1/*3C*TPMT *1/*3C patients; *TPMT *1/*3C*TPMT *1/*3C median MeMPN 2061 pmol/8 \u00d7 10^8^8 red cells (range 60 to 10746) and *TPMT *1/*3A*TPMT *1/*3A median MeMPN 4542 (range 84 to 38 386), median difference 2190 pmol (95% CI \u221254 to 5180), *P *P = 0\u00b706).", - "Despite similar mercaptopurine dosages and TPMT activities, the *TPMT*1/*3C*TPMT*1/*3C patients accumulated significantly less TGNs and lower MeMPN concentrations than *TPMT*1/*3A*TPMT*1/*3A patients; this could indicate an increased frequency of non\u2010adherence and suboptimal metabolite exposure in the *TPMT*1/*3C*TPMT*1/*3C cohort.", - "There was no significant difference between the *TPMT*1/*3C*TPMT*1/*3C and *TPMT*1/*3A*TPMT*1/*3A patients with respect to mean daily dose or incidence of cytopenias, although the number of *TPMT*1/*3C*TPMT*1/*3C patients with full dose intensity data available was small (*n*n = 9), (Table [4](#bjh13240-tbl-0004)4)." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3A", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine", - "link": "https://www.clinpgx.org/chemical/PA450379" - }, - "relationship_effect": "TPMT*1/*3A patients had higher TGN concentrations than TPMT*1/*1 patients.", - "p_value": "Median difference 394 pmol (326 to 466), P<0.0001", - "citations": [ - "For both genders and both thiopurines, *TPMT*TPMT heterozygous patients accumulated significantly higher TGN concentrations compared to the *TPMT*TPMT wild\u2010type cohort (Relling *et al*et al, [1999a](#bjh13240-bib-0027)1999a; Lennard *et al*et al, [2013](#bjh13240-bib-0015)2013).", - "*TPMT *1/*3A*TPMT *1/*3A patients had a better EFS than *TPMT *1/*1*TPMT *1/*1 patients, the former also experienced more cytopenias and accumulated higher TGN concentrations than the latter." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3A", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine", - "link": "https://www.clinpgx.org/chemical/PA450379" - }, - "relationship_effect": "TPMT*1/*3A patients had lower MeMPN concentrations than TPMT*1/*1 patients.", - "p_value": "Median difference \u22125464 (\u22127278 to \u22123808), P<0.0001", - "citations": [ - "MeMPN concentrations were also lower in *TPMT *1/*3C*TPMT *1/*3C patients; *TPMT *1/*3C*TPMT *1/*3C median MeMPN 2061 pmol/8 \u00d7 10^8^8 red cells (range 60 to 10746) and *TPMT *1/*3A*TPMT *1/*3A median MeMPN 4542 (range 84 to 38 386), median difference 2190 pmol (95% CI \u221254 to 5180), *P *P = 0\u00b706).", - "| MP\u2010MeMPNs pmol | 10702 (0\u2013141772) | 4078 (60\u201338386) | \u22125464 (\u22127278 to \u22123808), P < 0\u00b70001 |" - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3A", - "link": "No Match Found" - }, - "drug": { - "value": "Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*3A patients had higher TGN concentrations than TPMT*1/*1 patients.", - "p_value": "Median difference 504 (206 to 802), P=0.0009", - "citations": [ - "For both genders and both thiopurines, *TPMT*TPMT heterozygous patients accumulated significantly higher TGN concentrations compared to the *TPMT*TPMT wild\u2010type cohort (Relling *et al*et al, [1999a](#bjh13240-bib-0027)1999a; Lennard *et al*et al, [2013](#bjh13240-bib-0015)2013).", - "*TPMT *1/*3A*TPMT *1/*3A patients had a better EFS than *TPMT *1/*1*TPMT *1/*1 patients, the former also experienced more cytopenias and accumulated higher TGN concentrations than the latter." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3A", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*3A patients tolerated a significantly lower average daily thiopurine dose than TPMT*1/*1 patients (70% vs 78% of protocol dose).", - "p_value": "P<0.0002", - "citations": [ - "Comparing the *TPMT*TPMT wild\u2010type (*TPMT*1/*1*TPMT*1/*1) patients with the *TPMT*TPMT wild\u2010type/variant allele heterozygotes, the former had a higher average dose than the latter (78% versus 70% respectively, *P *P < 0\u00b70002) and experienced less time with the dose withdrawn due to cytopenias (15\u00b75% vs. 20\u00b78% of time respectively, *P *P < 0\u00b7001).", - "In the present study, however, the *TPMT*TPMT heterozygotes tolerated significantly lower average % dosages than the *TPMT*TPMT wild\u2010type patients (70% vs 78% for *TPMT*TPMT wild\u2010type, a daily\u2010dose difference of 6 mg/m^2^2 per day mercaptopurine or 3\u00b72 mg/m^2^2 per day thioguanine)." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3A", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*3A patients experienced more time with the dose withdrawn due to cytopenias than TPMT*1/*1 patients (21.3% vs 15.5%).", - "p_value": "P<0.0001", - "citations": [ - "Comparing the *TPMT*TPMT wild\u2010type (*TPMT*1/*1*TPMT*1/*1) patients with the *TPMT*TPMT wild\u2010type/variant allele heterozygotes, the former had a higher average dose than the latter (78% versus 70% respectively, *P *P < 0\u00b70002) and experienced less time with the dose withdrawn due to cytopenias (15\u00b75% vs. 20\u00b78% of time respectively, *P *P < 0\u00b7001).", - "The *TPMT*TPMT heterozygotes tolerated a significantly lower average daily thiopurine dose than the *TPMT*TPMT wild\u2010type patients and experienced more cytopenias." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3C", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*3C patients experienced more time with the dose withdrawn due to cytopenias than TPMT*1/*1 patients (25.0% vs 15.5%).", - "p_value": "P=0.05", - "citations": [ - "Comparing the TPMT wild\u2010type (TPMT*1/*1) patients with the TPMT wild\u2010type/variant allele heterozygotes, the former had a higher average dose than the latter (78% versus 70% respectively, P < 0\u00b70002) and experienced less time with the dose withdrawn due to cytopenias (15\u00b75% vs. 20\u00b78% of time respectively, P < 0\u00b7001).", - "Group 4 | *1/*1 vs | 735 | 78\u00b70 (29\u00b78\u2013162\u00b74) | 0\u00b704 | 15\u00b75 (0\u00b70\u201362\u00b72) | 0\u00b705 | 5\u00b78 (0\u00b70\u201384\u00b72) | 0\u00b71 | 23\u00b74 (0\u00b78\u201362\u00b79) | 0\u00b79 | 3\u00b74 (0\u00b70\u201373.) | 0\u00b7008 | *1/*3C | 9 | 72\u00b75 (3\u00b70\u201383\u00b71) | 25\u00b70 (10\u00b72\u201397\u00b70) | 2\u00b74 (0\u00b70\u20134\u00b79) | 22\u00b74 (13\u00b75\u201337\u00b73) | 8\u00b78 (1\u00b75\u201357\u00b70) | | | | | | |" - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3A", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*3A patients experienced more cytopenias than TPMT*1/*1 patients.", - "p_value": "P=0.02 (for neutropenia <0.5x10^9/L); P<0.0001 (for thrombocytopenia <100x10^9/L)", - "citations": [ - "The TPMT heterozygotes tolerated a significantly lower average daily thiopurine dose than the TPMT wild\u2010type patients and experienced more cytopenias.", - "## Table 4. Thiopurine dosage and myelosuppression by TPMT genotype", - "Comparing the TPMT wild\u2010type (TPMT*1/*1) patients with the TPMT wild\u2010type/variant allele heterozygotes, the former had a higher average dose than the latter (78% versus 70% respectively, P < 0\u00b70002) and experienced less time with the dose withdrawn due to cytopenias (15\u00b75% vs. 20\u00b78% of time respectively, P < 0\u00b7001)." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3C", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*3C patients experienced more cytopenias than TPMT*1/*1 patients.", - "p_value": "P=0.009 (for neutropenia <0.5x10^9/L); P=0.008 (for thrombocytopenia <100x10^9/L)", - "citations": [ - "Comparing the TPMT wild\u2010type (TPMT*1/*1) patients with the TPMT wild\u2010type/variant allele heterozygotes, the former had a higher average dose than the latter (78% versus 70% respectively, P < 0\u00b70002) and experienced less time with the dose withdrawn due to cytopenias (15\u00b75% vs. 20\u00b78% of time respectively, P < 0\u00b7001).", - "The TPMT heterozygotes tolerated a significantly lower average daily thiopurine dose than the TPMT wild\u2010type patients and experienced more cytopenias." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3C", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "In multivariate Cox regression, TPMT*1/*3C genotype was associated with worse survival compared to TPMT*1/*1 and other variant heterozygotes (hazard ratio 3.2, 95% CI 1.5\u20136.8).", - "p_value": "P=0.003", - "citations": [ - "In a multivariate Cox regression analysis, the worse survival for *TPMT*1/*3C*TPMT*1/*3C against *TPMT*1/*3A*TPMT*1/*3A (*TPMT*1/*3C*TPMT*1/*3C hazard ratio = 4\u00b75, 95% CI 1\u00b77\u201311\u00b78, *P *P = 0\u00b7003) and for *TPMT*1/*3C*TPMT*1/*3C against *TPMT*1/*1*TPMT*1/*1 and all other *TPMT*TPMT variant heterozygous genotypes (Table [5](#bjh13240-tbl-0005)5) retained significance in models for overall EFS that also included the covariates trial, age group, WBC at diagnosis and steroid randomization.", - "Multivariate Cox regression analysis of overall event\u2010free survival for TPMT genotype and significant covariates", - "EFS differed significantly by *TPMT*TPMT genotype (Fig [2](#bjh13240-fig-0002)2). Heterozygous *TPMT*1/*3C*TPMT*1/*3C patients fared worse (5\u2010year EFS, 53%, 95%CI 29\u201377%) compared to the other heterozygous *TPMT*TPMT patients (*TPMT*1/*3A, *1/*2, *1/*21, *1/*9, *1/*32, *1/*33, *1/*34*TPMT*1/*3A, *1/*2, *1/*21, *1/*9, *1/*32, *1/*33, *1/*34; EFS 89%, 95%CI 83\u201395%, *P *P = 0\u00b7002) and homozygous *TPMT*1/*1*TPMT*1/*1 patients (EFS 80%%, 95%CI 78\u201382%, *P *P = 0\u00b703)." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*3A", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "In multivariate Cox regression, TPMT*1/*3A and other variant heterozygotes had a hazard ratio of 0.6 (95% CI 0.4\u20131.1) for EFS compared to TPMT*1/*1.", - "p_value": "P=0.003 (overall for genotype)", - "citations": [ - "In a multivariate Cox regression analysis, the worse survival for *TPMT*1/*3C*TPMT*1/*3C against *TPMT*1/*3A*TPMT*1/*3A (*TPMT*1/*3C*TPMT*1/*3C hazard ratio = 4\u00b75, 95% CI 1\u00b77\u201311\u00b78, *P *P = 0\u00b7003) and for *TPMT*1/*3C*TPMT*1/*3C against *TPMT*1/*1*TPMT*1/*1 and all other *TPMT*TPMT variant heterozygous genotypes (Table [5](#bjh13240-tbl-0005)5) retained significance in models for overall EFS that also included the covariates trial, age group, WBC at diagnosis and steroid randomization.", - "Multivariate Cox regression analysis of overall event\u2010free survival for TPMT genotype and significant covariates", - "| | Hazard ratio | 95% CI | P |" - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*1", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*1 patients tolerated a higher average dose than heterozygotes (78% vs 70% of protocol dose).", - "p_value": "P<0.0002", - "citations": [ - "Comparing the *TPMT*TPMT wild\u2010type (*TPMT*1/*1*TPMT*1/*1) patients with the *TPMT*TPMT wild\u2010type/variant allele heterozygotes, the former had a higher average dose than the latter (78% versus 70% respectively, *P *P < 0\u00b70002) and experienced less time with the dose withdrawn due to cytopenias (15\u00b75% vs. 20\u00b78% of time respectively, *P *P < 0\u00b7001).", - "The *TPMT*TPMT heterozygotes tolerated a significantly lower average daily thiopurine dose than the *TPMT*TPMT wild\u2010type patients and experienced more cytopenias.", - "## Table 4. Thiopurine dosage and myelosuppression by TPMT genotype" - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*1", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*1 patients experienced less time with the dose withdrawn due to cytopenias than heterozygotes (15.5% vs 20.8%).", - "p_value": "P<0.001", - "citations": [ - "Comparing the *TPMT*TPMT wild\u2010type (*TPMT*1/*1*TPMT*1/*1) patients with the *TPMT*TPMT wild\u2010type/variant allele heterozygotes, the former had a higher average dose than the latter (78% versus 70% respectively, *P *P < 0\u00b70002) and experienced less time with the dose withdrawn due to cytopenias (15\u00b75% vs. 20\u00b78% of time respectively, *P *P < 0\u00b7001).", - "The *TPMT*TPMT heterozygotes tolerated a significantly lower average daily thiopurine dose than the *TPMT*TPMT wild\u2010type patients and experienced more cytopenias." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*1/*1", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine or Thioguanine", - "link": "https://www.clinpgx.org/chemical/PA451663" - }, - "relationship_effect": "TPMT*1/*1 patients experienced less cytopenias than heterozygotes.", - "p_value": "P=0.02 (for neutropenia <0.5x10^9/L); P<0.0001 (for thrombocytopenia <100x10^9/L)", - "citations": [ - "The TPMTTPMT heterozygotes tolerated a significantly lower average daily thiopurine dose than the TPMTTPMT wild\u2010type patients and experienced more cytopenias.", - "Comparing the TPMTTPMT wild\u2010type (TPMT*1/*1TPMT*1/*1) patients with the TPMTTPMT wild\u2010type/variant allele heterozygotes, the former had a higher average dose than the latter (78% versus 70% respectively, PP < 0\u00b70002) and experienced less time with the dose withdrawn due to cytopenias (15\u00b75% vs. 20\u00b78% of time respectively, PP < 0\u00b7001).", - "## Table 4. Thiopurine dosage and myelosuppression by TPMT genotype" - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*2/*3A", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine", - "link": "https://www.clinpgx.org/chemical/PA450379" - }, - "relationship_effect": "A compound heterozygote (TPMT*2/*3A) tolerated an average daily dose of 12.6% of protocol (9.45 mg/m^2), indicating extreme sensitivity to mercaptopurine.", - "p_value": "Not specified", - "citations": [ - "Due to more myelosuppression the *TPMT*2/*3A compound heterozygote tolerated an average daily dose of 12\u00b76% (9\u00b745 mg/m^2) and the *TPMT*3C/*3C homozygous mutant 19\u00b75% (14\u00b76 mg/m^2).", - "Only two children homozygous for TPMT variant alleles (TPMT deficiency) had full dose intensity data available: both of these girls were randomized to mercaptopurine; mercaptopurine tolerance differed between the two." - ], - "p_value_citations": [] - }, - { - "gene": "TPMT", - "polymorphism": { - "value": "*3C/*3C", - "link": "No Match Found" - }, - "drug": { - "value": "Mercaptopurine", - "link": "https://www.clinpgx.org/chemical/PA450379" - }, - "relationship_effect": "A homozygous mutant (TPMT*3C/*3C) tolerated an average daily dose of 19.5% of protocol (14.6 mg/m^2), indicating extreme sensitivity to mercaptopurine.", - "p_value": "Not specified", - "citations": [ - "Due to more myelosuppression the *TPMT*2/*3A*TPMT*2/*3A compound heterozygote tolerated an average daily dose of 12\u00b76% (9\u00b745 mg/m^2^2) and the *TPMT*3C/*3C*TPMT*3C/*3C homozygous mutant 19\u00b75% (14\u00b76 mg/m^2^2).", - "## Table 4. Thiopurine dosage and myelosuppression by TPMT genotype", - "Only two children homozygous for *TPMT*TPMT variant alleles (TPMT deficiency) had full dose intensity data available: both of these girls were randomized to mercaptopurine; mercaptopurine tolerance differed between the two." - ], - "p_value_citations": [] - } - ] - } -} \ No newline at end of file diff --git a/data/annotations/PMC5712579.json b/data/annotations/PMC5712579.json deleted file mode 100644 index 84a562a..0000000 --- a/data/annotations/PMC5712579.json +++ /dev/null @@ -1,278 +0,0 @@ -{ - "pmcid": "PMC5712579", - "title": "Association of HLA-A and HLA-B Alleles with Lamotrigine-Induced Cutaneous Adverse Drug Reactions in the Thai Population", - "study_parameters": { - "summary": { - "content": "The study aimed to investigate the association between specific HLA alleles and lamotrigine-induced cutaneous adverse drug reactions (CADR) in the Thai population, motivated by the need to identify genetic markers that could predict these adverse reactions. A case-control design was employed, involving 15 patients with lamotrigine-induced CADR and 50 lamotrigine-tolerant controls, with HLA-A and HLA-B genotyping performed using PCR-SSO. The results revealed significant associations of HLA-A*02:07 and HLA-B*15:02 alleles with lamotrigine-induced CADR, suggesting these alleles as potential screening markers to prevent CADR in Thai patients.", - "citations": [ - "Fifteen patients with LTG-induced CADR [10 MPE; 4 Stevens\u2013Johnson syndrome; and 1 drug reaction with eosinophilia and systemic symptoms] and 50 LTG-tolerant controls were included in the study.", - "HLA-A and HLA-B genotyping was performed using polymerase chain reaction-sequence-specific oligonucleotides probes.", - "The proportion of HLA-A\u221702:07 and HLA-B\u221715:02 allele carriers were significantly higher in the LTG-induced CADR group than in the tolerant controls [odds ratio (OR): 7.83; 95% confidence interval (CI): 1.60\u201338.25; P = 0.013, and OR: 4.89; 95% CI: 1.28\u201318.67; P = 0.014]." - ] - }, - "study_type": { - "content": "case/control", - "citations": [ - "A case\u2013control study was performed at the Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Thailand.", - "Fifteen LTG-induced CADR (4 cases of SJS, 1 case of DRESS, and 10 cases of MPE) were recruited from the Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Manarom Hospital, and Srinagarind Hospital between 2011 and 2015.", - "Patients who had been taking LTG for more than 6 months without evidence of cutaneous adverse effects were recruited as LTG-tolerant controls." - ] - }, - "participant_info": { - "content": [ - "**Age**: The mean age of the LTG-induced CADR patients was 35.2 \u00b1 22.1 years.", - "**Gender**: 73.3% of the LTG-induced CADR patients were female.", - "**Ethnicity**: All participants were from the Thai population.", - "**Pre-existing Conditions**: Indications for LTG use included epilepsy (40.0%), bipolar disorder (33.3%), depressive disorder (20.0%), and major depressive disorder (6.7%) in the LTG-induced CADR group.", - "**Study Groups**: The study included 15 LTG-induced CADR patients (10 with MPE, 4 with SJS, and 1 with DRESS) and 50 LTG-tolerant controls.", - "**Concomitant Medication**: 6.7% of the LTG-induced CADR patients used valproic acid concomitantly." - ], - "citations": [ - "DNA samples from 15 LTG-induced CADR patients (10 cases with MPE, 4 cases with SJS, and 1 case with DRESS) and 50 LTG-tolerant controls and the general population group were genotyped.", - "The mean age of the LTG-induced CADR patients was 35.2 \u00b1 22.1 and 73.3% were female.", - "| Indication for LTG, n(%) | | | 0.290 |" - ] - }, - "study_design": { - "content": [ - "**Study Design:** Case-control study.", - "**Study Population:** Thai patients.", - "**Sample Size:** 15 patients with lamotrigine-induced cutaneous adverse drug reactions (CADR) and 50 lamotrigine-tolerant controls.", - "**Recruitment Period:** Between 2011 and 2015.", - "**Recruitment Locations:** Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Manarom Hospital, and Srinagarind Hospital.", - "**Inclusion Criteria for Cases:** Patients who developed CADR (SJS, MPE, or DRESS) within 2 months after initiating lamotrigine treatment.", - "**Inclusion Criteria for Controls:** Patients who had been taking lamotrigine for more than 6 months without evidence of cutaneous adverse effects.", - "**HLA Genotyping Method:** Polymerase chain reaction-sequence-specific oligonucleotides (PCR-SSOs).", - "**Ethical Approval:** Approved by the Ramathibodi Hospital Ethical Review Board." - ], - "citations": [ - "A case\u2013control study was performed at the Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), Ramathibodi Hospital, Thailand.", - "Fifteen LTG-induced CADR (4 cases of SJS, 1 case of DRESS, and 10 cases of MPE) were recruited from the Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Manarom Hospital, and Srinagarind Hospital between 2011 and 2015.", - "Patients who had been taking LTG for more than 6 months without evidence of cutaneous adverse effects were recruited as LTG-tolerant controls." - ] - }, - "study_results": { - "content": [ - "**HLA-A\u221702:07 and HLA-B\u221715:02 association with LTG-induced CADR:** The study found a significant association with odds ratios (OR) of 7.83 (95% CI: 1.60\u201338.25, P = 0.013) and 4.89 (95% CI: 1.28\u201318.67, P = 0.014), respectively.", - "**HLA-A\u221733:03, HLA-B\u221715:02, and HLA-B\u221744:03 association with LTG-induced MPE:** These alleles were significantly associated with ORs of 8.27 (95% CI: 1.83\u201337.41, P = 0.005), 7.33 (95% CI: 1.63\u201333.02, P = 0.005), and 10.29 (95% CI: 1.45\u201372.81, P = 0.029), respectively.", - "**HLA-B\u221735:08 and HLA-B\u221739:01 association with LTG-induced CADR:** These alleles showed significant associations with the general population, with ORs of 70.36 (95% CI: 4.19\u20131182.21, P = 0.030) and 10.68 (95% CI: 2.20\u201351.83, P = 0.022), respectively.", - "**No significant association with LTG-induced SCAR:** The study found no significant differences in HLA alleles between the LTG-induced SCAR group and control groups." - ], - "citations": [ - "The proportion of HLA-A\u221702:07 and HLA-B\u221715:02 allele carriers were significantly higher in the LTG-induced CADR group than in the tolerant controls [odds ratio (OR): 7.83; 95% confidence interval (CI): 1.60\u201338.25; P = 0.013, and OR: 4.89; 95% CI: 1.28\u201318.67; P = 0.014].", - "In addition, subjects with HLA-A\u221733:03, HLA-B\u221715:02, and HLA-B\u221744:03 were significantly higher in the LTG-induced MPE group than in the tolerant controls (OR: 8.27; 95% CI: 1.83\u201337.41; P = 0.005, OR: 7.33; 95% CI: 1.63\u201333.02; P = 0.005; and OR: 10.29; 95% CI: 1.45\u201372.81; P = 0.029).", - "In contrast to the LTG-induced MPE group, there were no significant differences between HLA alleles and LTG-induced SCAR group." - ] - }, - "allele_frequency": { - "content": [ - "**HLA-A\u221702:07**: Found in 33.3% of LTG-induced CADR patients, 6% of LTG-tolerant controls, and 13.3% of the general population.", - "**HLA-A\u221733:03**: Found in 46.7% of LTG-induced CADR patients, 22% of LTG-tolerant controls, and 21.7% of the general population.", - "**HLA-B\u221715:02**: Found in 40% of LTG-induced CADR patients, 12% of LTG-tolerant controls, and 15.5% of the general population.", - "**HLA-B\u221735:08**: Found in 6.7% of LTG-induced CADR patients and 0.1% of the general population.", - "**HLA-B\u221739:01**: Found in 13.3% of LTG-induced CADR patients, 2% of LTG-tolerant controls, and 1.4% of the general population.", - "**HLA-B\u221744:03**: Found in 20% of LTG-induced CADR patients, 4% of LTG-tolerant controls, and 8.3% of the general population." - ], - "citations": [ - "We found the *HLA-B\u221715:02*HLA-B^\u2217^\u221715:02 allele in 40.0% of patients who developed CADR and in 12.0% of the tolerant patients.", - "Compared with the *HLA-B*HLA-B allele, *HLA-A\u221702:07*HLA-A^\u2217^\u221702:07 was present in 33.3% of LTG-induced CADR patients and showed significantly higher frequencies than both the treatment control and general population groups with OR = 7.83, 95% CI = 1.60\u201338.25, *P*P-value = 0.013 and OR = 3.27, 95% CI = 1.07\u20139.96, *P*P-value = 0.029, respectively; in addition, *HLA-A\u221733:03*HLA-A^\u2217^\u221733:03 also had a significantly higher frequency than in the general population (OR = 3.16, 95% CI = 1.11\u20138.98, *P*P-value = 0.023)." - ] - }, - "additional_resource_links": [ - "The study provides the following additional resources or links related to the design and execution of the study:", - "- [PDF of the article](https://pmc.ncbi.nlm.nih.gov/articles/PMC5712579/pdf/fphar-08-00879.pdf)", - "- [Supplementary Material for the article](https://www.frontiersin.org/articles/10.3389/fphar.2017.00879/full#supplementary-material)" - ] - }, - "annotations": { - "relationships": [ - { - "gene": "HLA-A", - "polymorphism": { - "value": "*02:07", - "link": "https://www.clinpgx.org/variant/PA166155979" - }, - "drug": { - "value": "Lamotrigine", - "link": "https://www.clinpgx.org/chemical/PA450164" - }, - "relationship_effect": "HLA-A*02:07 is associated with increased risk of lamotrigine-induced cutaneous adverse drug reactions (CADR) in Thai patients.", - "p_value": "P = 0.013; OR: 7.83 (1.60\u201338.25) vs tolerant controls; P = 0.029; OR: 3.27 (1.07\u20139.96) vs general population", - "citations": [ - "Compared with the HLA-B allele, HLA-A\u221702:07 was present in 33.3% of LTG-induced CADR patients and showed significantly higher frequencies than both the treatment control and general population groups with OR = 7.83, 95% CI = 1.60\u201338.25, P-value = 0.013 and OR = 3.27, 95% CI = 1.07\u20139.96, P-value = 0.029, respectively; in addition, HLA-A\u221733:03 also had a significantly higher frequency than in the general population (OR = 3.16, 95% CI = 1.11\u20138.98, P-value = 0.023).", - "In the present study, we found the significant association between LTG-induced CADR and HLA-A\u221702:07 and HLA-B\u221715:02 when compared with both tolerant and general population controls.", - "## Table 3. List of HLA alleles that showed a significant association with LTG-induced cutaneous adverse drug reactions." - ], - "p_value_citations": [] - }, - { - "gene": "HLA-A", - "polymorphism": { - "value": "*33:03", - "link": "https://www.clinpgx.org/variant/PA166156273" - }, - "drug": { - "value": "Lamotrigine", - "link": "https://www.clinpgx.org/chemical/PA450164" - }, - "relationship_effect": "HLA-A*33:03 is associated with increased risk of lamotrigine-induced cutaneous adverse drug reactions (CADR) in Thai patients.", - "p_value": "P = 0.061; OR: 3.10 (0.92\u201310.46) vs tolerant controls; P = 0.023; OR: 3.16 (1.11\u20138.98) vs general population", - "citations": [ - "In addition, we also found a significant association between LTG-induced CADR patients and both HLA-B\u221735:08 and HLA-B\u221739:01 when compared with the general population with OR = 70.36, 95% CI = 4.19\u20131182.21, P-value = 0.030 and OR = 10.68, 95% CI = 2.20\u201351.83, P-value = 0.022, respectively.", - "| HLA allele | LTG-induced CADR +/total | LTG-tolerant +/total | Cases versus LTG-tolerant | General population +/total | Cases versus general population |", - "| ---------- | ------------------------ | -------------------- | ------------------------- | -------------------------- | ------------------------------- |" - ], - "p_value_citations": [] - }, - { - "gene": "HLA-B", - "polymorphism": { - "value": "*15:02", - "link": "https://www.clinpgx.org/variant/PA166154985" - }, - "drug": { - "value": "Lamotrigine", - "link": "https://www.clinpgx.org/chemical/PA450164" - }, - "relationship_effect": "HLA-B*15:02 is associated with increased risk of lamotrigine-induced cutaneous adverse drug reactions (CADR) in Thai patients.", - "p_value": "P = 0.014; OR: 4.89 (1.28\u201318.66) vs tolerant controls; P = 0.027; OR: 3.63 (1.27\u201310.34) vs general population", - "citations": [ - "The proportion of patients carrying the HLA-B\u221715:02 allele was significantly higher in LTG-induced CADR cases than in both the treatment controls and general population groups with odds ratios (OR) of 4.89, 95% CI = 1.28\u201318.66, P-value = 0.014 and OR = 3.63, 95% CI = 1.27\u201310.34, P-value = 0.027, respectively.", - "Conclusion: HLA-A\u221702:07 and HLA-B\u221715:02 were associated with LTG-induced CADR in Thai patients.", - "## Table 3. List of HLA alleles that showed a significant association with LTG-induced cutaneous adverse drug reactions." - ], - "p_value_citations": [] - }, - { - "gene": "HLA-B", - "polymorphism": { - "value": "*35:08", - "link": "No Match Found" - }, - "drug": { - "value": "Lamotrigine", - "link": "https://www.clinpgx.org/chemical/PA450164" - }, - "relationship_effect": "HLA-B*35:08 is associated with increased risk of lamotrigine-induced cutaneous adverse drug reactions (CADR) in Thai patients (rare allele).", - "p_value": "P = 0.231; OR: 10.45 (0.40\u2013270.41) vs tolerant controls; P = 0.030; OR: 70.36 (4.19\u20131182.21) vs general population", - "citations": [ - "In addition, we also found a significant association between LTG-induced CADR patients and both HLA-B\u221735:08 and HLA-B\u221739:01 when compared with the general population with OR = 70.36, 95% CI = 4.19\u20131182.21, P-value = 0.030 and OR = 10.68, 95% CI = 2.20\u201351.83, P-value = 0.022, respectively.", - "Table 3. List of HLA alleles that showed a significant association with LTG-induced cutaneous adverse drug reactions.", - "In this study, we report for the first time a significant association between HLA-B\u221735:08 and LTG-induced CADR or MPE, although this allele has been reported in only one case of LTG-induced MPE and once in the general population, as a result of this allele being very rare in the Thai population (less than 1%, data from [Puangpetch et al., 2015](#B24)Puangpetch et al., 2015)." - ], - "p_value_citations": [] - }, - { - "gene": "HLA-B", - "polymorphism": { - "value": "*39:01", - "link": "https://www.clinpgx.org/variant/PA166197903" - }, - "drug": { - "value": "Lamotrigine", - "link": "https://www.clinpgx.org/chemical/PA450164" - }, - "relationship_effect": "HLA-B*39:01 is associated with increased risk of lamotrigine-induced cutaneous adverse drug reactions (CADR) in Thai patients (rare allele).", - "p_value": "P = 0.131; OR: 7.54 (0.63\u201389.76) vs tolerant controls; P = 0.022; OR: 10.68 (2.20\u201351.83) vs general population", - "citations": [ - "In addition, we also found a significant association between LTG-induced CADR patients and both HLA-B\u221735:08 and HLA-B\u221739:01 when compared with the general population with OR = 70.36, 95% CI = 4.19\u20131182.21, P-value = 0.030 and OR = 10.68, 95% CI = 2.20\u201351.83, P-value = 0.022, respectively.", - "HLA-B\u221739:01 | 2/15 | 1/50 | 7.54 (0.63\u201389.76) | 0.131 | 14/986 | 10.68 (2.20\u201351.83) | 0.022 |" - ], - "p_value_citations": [] - }, - { - "gene": "HLA-A", - "polymorphism": { - "value": "*02:07", - "link": "https://www.clinpgx.org/variant/PA166155979" - }, - "drug": { - "value": "Lamotrigine", - "link": "https://www.clinpgx.org/chemical/PA450164" - }, - "relationship_effect": "HLA-A*02:07 is associated with increased risk of lamotrigine-induced maculopapular exanthema (MPE) in Thai patients.", - "p_value": "P = 0.052; OR: 6.71 (1.13\u201340.07) vs tolerant controls; P = 0.145; OR: 2.80 (0.70\u201311.19) vs general population", - "citations": [ - "In subgroup analysis of LTG-induced CADR, a significant association between LTG-induced MPE and HLA-B\u221715:02 was found when compared with the tolerant controls and general population (OR = 7.33, 95% CI = 1.63\u201333.02, P-value = 0.005 and OR = 5.44, 95% CI = 1.56\u201319.03, P-value = 0.003, respectively).", - "Compared with the HLA-B allele, HLA-A\u221702:07 was present in 33.3% of LTG-induced CADR patients and showed significantly higher frequencies than both the treatment control and general population groups with OR = 7.83, 95% CI = 1.60\u201338.25, P-value = 0.013 and OR = 3.27, 95% CI = 1.07\u20139.96, P-value = 0.029, respectively; in addition, HLA-A\u221733:03 also had a significantly higher frequency than in the general population (OR = 3.16, 95% CI = 1.11\u20138.98, P-value = 0.023)." - ], - "p_value_citations": [] - }, - { - "gene": "HLA-A", - "polymorphism": { - "value": "*33:03", - "link": "https://www.clinpgx.org/variant/PA166156273" - }, - "drug": { - "value": "Lamotrigine", - "link": "https://www.clinpgx.org/chemical/PA450164" - }, - "relationship_effect": "HLA-A*33:03 is associated with increased risk of lamotrigine-induced maculopapular exanthema (MPE) in Thai patients.", - "p_value": "P = 0.005; OR: 8.27 (1.83\u201337.41) vs tolerant controls; P = 0.002; OR: 8.43 (2.13\u201333.34) vs general population", - "citations": [ - "In addition, subjects with HLA-A\u221733:03, HLA-B\u221715:02, and HLA-B\u221744:03 were significantly higher in the LTG-induced MPE group than in the tolerant controls (OR: 8.27; 95% CI: 1.83\u201337.41; P = 0.005, OR: 7.33; 95% CI: 1.63\u201333.02; P = 0.005; and OR: 10.29; 95% CI: 1.45\u201372.81; P = 0.029).", - "## Table 4. The associations of individual HLA alleles with LTG-induced cutaneous adverse drug reactions among the different subgroups.", - "Moreover, we found a significant association of LTG-induced MPE with HLA-A\u221733:03 compared with the tolerant controls group (OR = 8.27, 95% CI = 1.83\u201337.41, P-value = 0.005) and general population group (OR = 8.43, 95% CI = 2.13\u201333.34, P-value = 0.002) as shown in Table 4." - ], - "p_value_citations": [] - }, - { - "gene": "HLA-B", - "polymorphism": { - "value": "*15:02", - "link": "https://www.clinpgx.org/variant/PA166154985" - }, - "drug": { - "value": "Lamotrigine", - "link": "https://www.clinpgx.org/chemical/PA450164" - }, - "relationship_effect": "HLA-B*15:02 is associated with increased risk of lamotrigine-induced maculopapular exanthema (MPE) in Thai patients.", - "p_value": "P = 0.005; OR: 7.33 (1.63\u201333.02) vs tolerant controls; P = 0.003; OR: 5.44 (1.56\u201319.03) vs general population", - "citations": [ - "In subgroup analysis of LTG-induced CADR, a significant association between LTG-induced MPE and *HLA-B\u221715:02*HLA-B^\u2217^\u221715:02 was found when compared with the tolerant controls and general population (OR = 7.33, 95% CI = 1.63\u201333.02, *P*P-value = 0.005 and OR = 5.44, 95% CI = 1.56\u201319.03, *P*P-value = 0.003, respectively).", - "The subgroup analysis revealed that the proportion of patients carrying the *HLA-B\u221715:02*HLA-B^\u2217^\u221715:02 allele was significantly higher in LTG-induced MPE cases than in both the tolerant control and general population groups, which is very different from previous studies in which *HLA-B\u221715:02*HLA-B^\u2217^\u221715:02 was not found to be associated with LTG-induced MPE ([An et al., 2010](#B2)An et al., 2010; [Shi et al., 2011](#B27)Shi et al., 2011).", - "## Table 4. The associations of individual HLA alleles with LTG-induced cutaneous adverse drug reactions among the different subgroups." - ], - "p_value_citations": [] - }, - { - "gene": "HLA-B", - "polymorphism": { - "value": "*35:08", - "link": "No Match Found" - }, - "drug": { - "value": "Lamotrigine", - "link": "https://www.clinpgx.org/chemical/PA450164" - }, - "relationship_effect": "HLA-B*35:08 is associated with increased risk of lamotrigine-induced maculopapular exanthema (MPE) in Thai patients (rare allele).", - "p_value": "P = 0.167; OR: 15.95 (0.60\u2013421.64) vs tolerant controls; P = 0.020; OR: 109.44 (6.34\u20131889.11) vs general population", - "citations": [ - "In subgroup analysis of LTG-induced CADR, a significant association between LTG-induced MPE and *HLA-B\u221715:02*HLA-B^\u2217^\u221715:02 was found when compared with the tolerant controls and general population (OR = 7.33, 95% CI = 1.63\u201333.02, *P*P-value = 0.005 and OR = 5.44, 95% CI = 1.56\u201319.03, *P*P-value = 0.003, respectively). Interestingly, a significant association between LTG-induced MPE and *HLA-B\u221744:03*HLA-B^\u2217^\u221744:03 was found when compared with both control groups (OR = 10.29, 95% CI = 1.45\u201372.81, *P*P-value = 0.029 and OR = 4.73, 95% CI = 1.20\u201318.62, *P*P-value = 0.046, respectively), whereas *HLA-B\u221735:08*HLA-B^\u2217^\u221735:08 was significantly associated only with the general population (OR = 109.44, 95% CI = 6.34\u20131889.11, *P*P-value = 0.020) (**Table 4**Table [4](#T4)4); nevertheless, no significant associations were found in LTG-induced SCAR.", - "In this study, we report for the first time a significant association between *HLA-B\u221735:08*HLA-B^\u2217^\u221735:08 and LTG-induced CADR or MPE, although this allele has been reported in only one case of LTG-induced MPE and once in the general population, as a result of this allele being very rare in the Thai population (less than 1%, data from [Puangpetch et al., 2015](#B24)Puangpetch et al., 2015)." - ], - "p_value_citations": [] - }, - { - "gene": "HLA-B", - "polymorphism": { - "value": "*44:03", - "link": "https://www.clinpgx.org/variant/PA166184205" - }, - "drug": { - "value": "Lamotrigine", - "link": "https://www.clinpgx.org/chemical/PA450164" - }, - "relationship_effect": "HLA-B*44:03 is associated with increased risk of lamotrigine-induced maculopapular exanthema (MPE) in Thai patients.", - "p_value": "P = 0.029; OR: 10.29 (1.45\u201372.81) vs tolerant controls; P = 0.046; OR: 4.73 (1.20\u201318.62) vs general population", - "citations": [ - "In subgroup analysis of LTG-induced CADR, a significant association between LTG-induced MPE and *HLA-B\u221715:02*HLA-B^\u2217^\u221715:02 was found when compared with the tolerant controls and general population (OR = 7.33, 95% CI = 1.63\u201333.02, *P*P-value = 0.005 and OR = 5.44, 95% CI = 1.56\u201319.03, *P*P-value = 0.003, respectively). Interestingly, a significant association between LTG-induced MPE and *HLA-B\u221744:03*HLA-B^\u2217^\u221744:03 was found when compared with both control groups (OR = 10.29, 95% CI = 1.45\u201372.81, *P*P-value = 0.029 and OR = 4.73, 95% CI = 1.20\u201318.62, *P*P-value = 0.046, respectively), whereas *HLA-B\u221735:08*HLA-B^\u2217^\u221735:08 was significantly associated only with the general population (OR = 109.44, 95% CI = 6.34\u20131889.11, *P*P-value = 0.020) (**Table 4**Table [4](#T4)4); nevertheless, no significant associations were found in LTG-induced SCAR.", - "Similarly to *HLA-B\u221735:08*HLA-B^\u2217^\u221735:08, the association of LTG-induced MPE and *HLA-B\u221744:03*HLA-B^\u2217^\u221744:03 alleles was firstly reported in the Thai population.", - "## Table 4. The associations of individual HLA alleles with LTG-induced cutaneous adverse drug reactions among the different subgroups." - ], - "p_value_citations": [] - } - ] - } -} \ No newline at end of file diff --git a/data/annotations/PMC5728534.json b/data/annotations/PMC5728534.json deleted file mode 100644 index 5bcba96..0000000 --- a/data/annotations/PMC5728534.json +++ /dev/null @@ -1,432 +0,0 @@ -{ - "pmcid": "PMC5728534", - "title": "Effects of genetic polymorphisms on the OCT1 and OCT2-mediated uptake of ranitidine", - "study_parameters": { - "summary": { - "content": "The study aimed to investigate the effects of genetic polymorphisms in the organic cation transporters OCT1 and OCT2 on the uptake of ranitidine, a commonly used H2-receptor antagonist. Using HEK293 and CHO cells overexpressing various OCT1 and OCT2 alleles, the researchers found that ranitidine is a substrate of OCT1, with significant variability in uptake depending on the OCT1 genetic variants. Notably, certain OCT1 alleles resulted in a complete lack of ranitidine uptake, while others showed reduced or increased uptake, highlighting the potential for genetic polymorphisms to influence ranitidine pharmacokinetics and drug-drug interactions.", - "citations": [ - "We confirmed ranitidine as an OCT1 substrate and demonstrated that common genetic polymorphisms in OCT1 strongly affect ranitidine uptake and modulate ranitidine\u2019s potential to cause drug-drug interactions.", - "The alleles OCT1*5, *6, *12, and *13 completely lacked ranitidine uptake.", - "The alleles OCT1*2, *3, *4, and *10 had vmax values decreased by more than 50%. In contrast, OCT1*8 showed an increase of vmax by 25%." - ] - }, - "study_type": { - "content": "Cross sectional", - "citations": [ - "We characterized ranitidine uptake using HEK293 and CHO cells stably transfected to overexpress wild type OCT1, OCT2, or their naturally occurring allelic variants.", - "We compared the uptake between the reference allele and the common OCT1 variant alleles using two different concentrations of ranitidine, 1 and 10 \u03bcM.", - "The effects of genetic variants on the cellular uptake of ranitidine (Km and vmax) and on ranitidine-mediated inhibition (IC50) were compared using analyses of variance (ANOVA) followed by Tukey\u2019s Honestly Significant Difference (HSD) post hoc analyses." - ] - }, - "participant_info": { - "content": [ - "The article does not provide specific details about participants in the study, as it is an in vitro study using cell lines. Therefore, there are no details about age, gender, ethnicity, pre-existing conditions, or other participant characteristics." - ], - "citations": [ - "We characterized ranitidine uptake using HEK293 and CHO cells stably transfected to overexpress wild type OCT1, OCT2, or their naturally occurring allelic variants.", - "The major limitation of our study is that it contains only *in vitro*in vitro analyses.", - "HEK293 or CHO cells overexpressing the human *OCT1*OCT1 alleles **1A**1A (characterized by the amino acid substitution Met408Val), **1B**1B, **1C**1C (Phe160Leu), **1D**1D (Pro341Leu/Met408Val), **2**2 (Met420del), **3**3 (Arg61Cys), **4**4 (Gly401Ser), **5**5 (Gly465Arg/Met420del), **6**6 (Cys88Arg/Met420del), **7**7 (Ser14Phe), **8A**8A (Arg488Met), **8B**8B (Arg488Met/Met408Val), **9**9 (Pro117Leu), **10**10 (Ser189Leu), **11**11 (Ile449Thr), **12**12 (Ser29Leu), or **13**13 (Thr245Met), the human *OCT2*OCT2 reference and variant alleles (Ala270Ser), human *OCT3*OCT3, and the control cells (transfected with the empty pcDNA5 vector) were generated by targeted chromosomal integration using the Flp-In\u2122 System (Life Technologies, Darmstadt, Germany)." - ] - }, - "study_design": { - "content": [ - "**Study Design**: The study utilized an in vitro experimental design.", - "**Cell Lines**: HEK293 and CHO cells were stably transfected to overexpress wild-type OCT1, OCT2, or their naturally occurring allelic variants.", - "**Sample Size**: The study does not specify a sample size in terms of the number of cell lines or experiments, but it mentions that experiments were conducted in at least three independent replicates.", - "**Genetic Variants Analyzed**: The study analyzed the effects of various OCT1 alleles (*OCT1*2 to *OCT1*13) and the OCT2 Ala270Ser polymorphism.", - "**Methods**: Ranitidine uptake was characterized using concentration and time-dependent assays, and its inhibitory effects on the uptake of other drugs were also assessed.", - "**Data Analysis**: Nonlinear regression to the Michaelis-Menten equation was used to determine kinetic parameters, and ANOVA followed by Tukey\u2019s HSD post hoc analyses were used for statistical comparisons." - ], - "citations": [ - "We characterized ranitidine uptake using HEK293 and CHO cells stably transfected to overexpress wild type OCT1, OCT2, or their naturally occurring allelic variants.", - "The effects of genetic variants on the cellular uptake of ranitidine (K_m_m and v_max_max) and on ranitidine-mediated inhibition (IC_50_50) were compared using analyses of variance (ANOVA) followed by Tukey\u2019s Honestly Significant Difference (HSD) post hoc analyses.", - "The data is shown as means and standard error of the means of at least three independent experiments." - ] - }, - "study_results": { - "content": [ - "**OCT1-mediated ranitidine uptake**: Ranitidine is confirmed as a substrate of OCT1 with a Km of 62.9 \u03bcM and a vmax of 1125 pmol/min/mg protein.", - "**OCT1 alleles lacking ranitidine uptake**: Alleles OCT1*5, *6, *12, and *13 completely lack ranitidine uptake.", - "**Reduced vmax in OCT1 alleles**: Alleles OCT1*2, *3, *4, and *10 show a vmax decrease of more than 50%.", - "**Increased vmax in OCT1*8**: The OCT1*8 allele shows a 25% increase in vmax, though not statistically significant (P = 0.5).", - "**Correlation with morphine uptake**: Effects of OCT1 alleles on ranitidine uptake strongly correlate with effects on morphine uptake (r\u00b2 = 0.961).", - "**Ranitidine inhibition of OCT1 substrates**: Ranitidine inhibits OCT1-mediated uptake of metformin and morphine, with IC50 values of 20.9 \u03bcM for metformin and 45.5 \u03bcM for morphine in the reference allele.", - "**Genotype-dependent inhibition**: Ranitidine is more potent in inhibiting the OCT1*2 allele than the reference allele, with an IC50 of 19.5 \u03bcM for morphine.", - "**OCT2-mediated ranitidine uptake**: OCT2 shows limited uptake of ranitidine, not significantly affected by the Ala270Ser polymorphism.", - "**Statistical significance**: The reduction in vmax for alleles OCT1*2, *3, *4, and *10 is statistically significant (P < 0.05)." - ], - "citations": [ - "Ranitidine was transported by wild-type OCT1 with a Km of 62.9 \u03bcM and a vmax of 1125 pmol/min/mg protein.", - "Alleles OCT1*5, *6, *12, and *13 completely lacked ranitidine uptake.", - "The alleles OCT1*2, *3, *4, and *10 showed a significant decrease of vmax ([Fig 2E](#pone.0189521.g002)Fig 2E and [Table 2](#pone.0189521.t002)Table 2)." - ] - }, - "allele_frequency": { - "content": [ - "**OCT1*2 allele frequency**: The global allele frequency of OCT1*2 is 12.2%.", - "**Poor OCT1 transporters in Europeans and White Americans**: 9% are homozygous or compound heterozygous carriers of loss-of-function alleles.", - "**Heterozygous carriers of loss-of-function alleles in Europeans and White Americans**: 40% have only one active copy of OCT1 in their genomes.", - "**Poor OCT1 transporters in East Asia**: Rare.", - "**Poor OCT1 transporters in certain South American populations**: More than 80%, e.g., the Surui Indians." - ], - "citations": [ - "Nine percent of Europeans and White Americans are homozygous or compound heterozygous carriers of these loss-of-function alleles (so called poor OCT1 transporters) [[14](#pone.0189521.ref014)14, [16](#pone.0189521.ref016)16, [30](#pone.0189521.ref030)30].", - "An additional 40% of Europeans and White Americans are heterozygous carriers of these alleles and have only one active copy of *OCT1*OCT1 in their genomes.", - "While rare in East Asia, poor OCT1 transporters represent more than 80% of certain populations in South America (e.g. the Surui Indians) [[19](#pone.0189521.ref019)19]." - ] - }, - "additional_resource_links": [ - "The study provides the following additional resources or links related to its design and execution:", - "- [DOI link to the article](https://doi.org/10.1371/journal.pone.0189521)", - "- [PubMed Central (PMC) link to the article](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728534/)", - "- [PDF version of the article](https://pmc.ncbi.nlm.nih.gov/articles/PMC5728534/pdf/pone.0189521.pdf)", - "These resources include access to the full article and its PDF version, which contain all relevant data and supporting information within the paper and its supplementary materials." - ] - }, - "annotations": { - "relationships": [ - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*5", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "Complete loss of ranitidine uptake via OCT1.", - "p_value": "Not specified, but effect is complete loss.", - "citations": [ - "The alleles OCT1*5, *6, *12, and *13 completely lacked ranitidine uptake.", - "The alleles OCT1*5, *6, *12, and *13 showed a complete lack of ranitidine transport activity after incubation with both 1 \u03bcM (Fig 2B) and 10 \u03bcM concentration of ranitidine (S1 Fig).", - "In this study we confirmed that ranitidine is a substrate of the human hepatic uptake transporter OCT1 and demonstrated that genetic polymorphisms in OCT1 lead to a significant reduction or even complete loss of ranitidine uptake." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*6", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "Complete loss of ranitidine uptake via OCT1.", - "p_value": "Not specified, but effect is complete loss.", - "citations": [ - "The alleles OCT1*5, *6, *12, and *13 completely lacked ranitidine uptake.", - "The alleles OCT1*5, *6, *12, and *13 showed a complete lack of ranitidine transport activity after incubation with both 1 \u03bcM (Fig 2B) and 10 \u03bcM concentration of ranitidine (S1 Fig).", - "In conclusion, we demonstrated that ranitidine is a substrate of OCT1 and that common genetic polymorphisms in OCT1 lead to a substantial reduction or even complete abolishment of OCT1-mediated ranitidine uptake." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*12", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "Complete loss of ranitidine uptake via OCT1.", - "p_value": "Not specified, but effect is complete loss.", - "citations": [ - "Alleles OCT1*5, *6, *12, and *13 completely lacked ranitidine uptake.", - "The alleles OCT1*5, *6, *12, and *13 showed a complete lack of ranitidine transport activity after incubation with both 1 \u03bcM ([Fig 2B](#pone.0189521.g002)Fig 2B) and 10 \u03bcM concentration of ranitidine ([S1 Fig](#pone.0189521.s001)S1 Fig).", - "In conclusion, we demonstrated that ranitidine is a substrate of OCT1 and that common genetic polymorphisms in OCT1 lead to a substantial reduction or even complete abolishment of OCT1-mediated ranitidine uptake." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*13", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "Complete loss of ranitidine uptake via OCT1.", - "p_value": "Not specified, but effect is complete loss.", - "citations": [ - "The alleles OCT1*5, *6, *12, and *13 completely lacked ranitidine uptake.", - "The alleles *OCT1*5*OCT1*5, **6**6, **12**12, and **13**13 showed a complete lack of ranitidine transport activity after incubation with both 1 \u03bcM ([Fig 2B](#pone.0189521.g002)Fig 2B) and 10 \u03bcM concentration of ranitidine ([S1 Fig](#pone.0189521.s001)S1 Fig).", - "In conclusion, we demonstrated that ranitidine is a substrate of OCT1 and that common genetic polymorphisms in *OCT1*OCT1 lead to a substantial reduction or even complete abolishment of OCT1-mediated ranitidine uptake." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*2", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "vmax decreased by 64% (from 1125 to 402 pmol/min/mg protein); intrinsic clearance decreased by 56%.", - "p_value": "vmax: *** (P<0.001); CLint: ** (P<0.01)", - "citations": [ - "The alleles OCT1*2, *3, *4, and *10 showed a significant decrease of vmax (Fig 2E and Table 2).", - "The decrease ranged from 50% (OCT1*10) to 91% (OCT1*4).", - "## Table 2. Effects of common amino acid substitutions on the kinetics of the OCT1-mediated uptake of ranitidine." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*3", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "vmax decreased by 77% (from 1125 to 255 pmol/min/mg protein); intrinsic clearance decreased by 58%.", - "p_value": "vmax: *** (P<0.001); CLint: ** (P<0.01)", - "citations": [ - "The alleles OCT1*2, *3, *4, and *10 showed a significant decrease of vmax (Fig 2E and Table 2).", - "The decrease ranged from 50% (OCT1*10) to 91% (OCT1*4).", - "## Table 2. Effects of common amino acid substitutions on the kinetics of the OCT1-mediated uptake of ranitidine." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*4", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "vmax decreased by 91% (from 1125 to 107 pmol/min/mg protein); intrinsic clearance decreased by 83%.", - "p_value": "vmax: *** (P<0.001); CLint: *** (P<0.001)", - "citations": [ - "The alleles OCT1*2, 3, 4, and 10 showed a significant decrease of vmax (Fig 2E and Table 2).", - "The decrease ranged from 50% (OCT1*10) to 91% (OCT1*4).", - "## Table 2. Effects of common amino acid substitutions on the kinetics of the OCT1-mediated uptake of ranitidine." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*10", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "vmax decreased by 50% (from 1125 to 568 pmol/min/mg protein); intrinsic clearance decreased by 52%.", - "p_value": "vmax: * (P<0.05); CLint: * (P<0.05)", - "citations": [ - "The alleles OCT1*2, *3, *4, and *10 showed a significant decrease of vmax (Fig 2E and Table 2).", - "The decrease ranged from 50% (OCT1*10) to 91% (OCT1*4).", - "These alleles also showed a significant decrease in the intrinsic clearance (CLint), ranging from 52% (OCT1*10) to 83% (OCT1*4)." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*8", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "vmax increased by 25% (from 1125 to 1412 pmol/min/mg protein), but difference not statistically significant.", - "p_value": "P = 0.5 (not significant)", - "citations": [ - "The OCT1*8 allele showed a 25% increase in vmax, though the difference was not statistically significant (P = 0.5, [Table 2](#pone.0189521.t002)Table 2, [Fig 2E](#pone.0189521.g002)Fig 2E).", - "In contrast, OCT1*8 showed an increase of vmax by 25%.", - "## Table 2. Effects of common amino acid substitutions on the kinetics of the OCT1-mediated uptake of ranitidine." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*1A", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "No significant difference in ranitidine uptake compared to reference allele.", - "p_value": "Not significant", - "citations": [ - "Alleles OCT1*1A, 1C, 1D, 7, 9, and 11 showed no significant difference in the uptake of ranitidine compared to the reference allele (Fig 2B and 2C, S1 Fig).", - "| OCT1 allele | Characteristic amino acid substitution | Km [\u03bcM] (\u00b1 SEM) | Vmax [pmol x min-1 x mg protein-1] (\u00b1SEM) | CLint [ml x min-1 x mg protein-1] (\u00b1SEM) |", - "In contrast, none of the analyzed polymorphisms significantly affected the affinity (Km) of ranitidine uptake (P = 0.17, Table 2)." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*1C", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "No significant difference in ranitidine uptake compared to reference allele.", - "p_value": "Not significant", - "citations": [ - "Alleles OCT1*1A, 1C, 1D, 7, 9, and 11 showed no significant difference in the uptake of ranitidine compared to the reference allele (Fig 2B and 2C, S1 Fig).", - "| OCT1 allele | Characteristic amino acid substitution | Km [\u03bcM] (\u00b1 SEM) | Vmax [pmol x min-1 x mg protein-1] (\u00b1SEM) | CLint [ml x min-1 x mg protein-1] (\u00b1SEM) |", - "In contrast, none of the analyzed polymorphisms significantly affected the affinity (Km) of ranitidine uptake (P = 0.17, Table 2)." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*1D", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "No significant difference in ranitidine uptake compared to reference allele.", - "p_value": "Not significant", - "citations": [ - "Alleles OCT1*1A, 1C, 1D, 7, 9, and 11 showed no significant difference in the uptake of ranitidine compared to the reference allele (Fig 2B and 2C, S1 Fig).", - "| OCT1 allele | Characteristic amino acid substitution | Km [\u03bcM] (\u00b1 SEM) | Vmax [pmol x min-1 x mg protein-1] (\u00b1SEM) | CLint [ml x min-1 x mg protein-1] (\u00b1SEM) |", - "The alleles OCT1*1A, 1C, 1D, 7, 9, and 11 showed no significant difference in ranitidine uptake compared to the reference allele (Table 2)." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*7", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "No significant difference in ranitidine uptake compared to reference allele.", - "p_value": "Not significant", - "citations": [ - "Alleles OCT1*1A, 1C, 1D, 7, 9, and 11 showed no significant difference in the uptake of ranitidine compared to the reference allele (Fig 2B and 2C, S1 Fig).", - "The OCT1*8 allele showed a 25% increase in vmax, though the difference was not statistically significant (P = 0.5, Table 2, Fig 2E).", - "In contrast, none of the analyzed polymorphisms significantly affected the affinity (Km) of ranitidine uptake (P = 0.17, Table 2)." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*9", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "No significant difference in ranitidine uptake compared to reference allele.", - "p_value": "Not significant", - "citations": [ - "Alleles OCT1*1A, 1C, 1D, 7, 9, and 11 showed no significant difference in the uptake of ranitidine compared to the reference allele (Fig 2B and 2C, S1 Fig).", - "OCT1*9 | Pro117Leu | 77.17 (\u00b133.23) | 1138.47 (\u00b1279.72) | 17.01 (\u00b12.72)", - "The alleles OCT1*1A, 1C, 1D, 7, 9, and 11 showed no significant difference in ranitidine uptake compared to the reference allele (P > 0.05, Table 2)." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*11", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "No significant difference in ranitidine uptake compared to reference allele.", - "p_value": "Not significant", - "citations": [ - "Alleles OCT1*1A, 1C, 1D, 7, 9, and 11 showed no significant difference in the uptake of ranitidine compared to the reference allele (Fig 2B and 2C, S1 Fig).", - "The OCT1*8 and OCT1*11 alleles did not affect ranitidine uptake, but strongly reduced TEA^+^+ and metformin uptake (Fig 5B).", - "In contrast, none of the analyzed polymorphisms significantly affected the affinity (K_m) of ranitidine uptake (P = 0.17, Table 2)." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*2", - "link": "No Match Found" - }, - "drug": { - "value": "metformin", - "link": "https://www.clinpgx.org/chemical/PA450395" - }, - "relationship_effect": "Ranitidine is a more potent inhibitor of OCT1-mediated metformin uptake in the OCT1*2 allele (IC50 14.87 \u03bcM) compared to reference (IC50 20.93 \u03bcM).", - "p_value": "IC50 values provided; no explicit p-value, but difference described as moderate.", - "citations": [ - "The genotype-dependent differences were most prominent when inhibiting morphine (IC_50_50 of 19.5 and 45.5 \u03bcM for *OCT1*2*OCT1*2 and **1**1, respectively) and least prominent when inhibiting metformin (IC_50_50 of 14.8 and 20.9 \u03bcM for *OCT1*2*OCT1*2 and **1**1, respectively).", - "Depending on the genotype, ranitidine was on average two-fold more potent in inhibiting the common *OCT1*2*OCT1*2 variant than the reference *OCT1*OCT1 allele.", - "## Table 3. Genotype and substrate-dependent variations in the potency of ranitidine to inhibit OCT1-mediated uptake related to the expected ranitidine concentration in the gastrointestinal tract [I]2 and in plasma [I]1." - ], - "p_value_citations": [] - }, - { - "gene": "OCT1", - "polymorphism": { - "value": "OCT1*2", - "link": "No Match Found" - }, - "drug": { - "value": "morphine", - "link": "https://www.clinpgx.org/chemical/PA450550" - }, - "relationship_effect": "Ranitidine is a more potent inhibitor of OCT1-mediated morphine uptake in the OCT1*2 allele (IC50 19.5 \u03bcM) compared to reference (IC50 45.5 \u03bcM).", - "p_value": "IC50 values provided; no explicit p-value, but difference described as moderate.", - "citations": [ - "The inhibitory potency for morphine uptake was affected by the OCT1*2 allele.", - "Depending on the genotype, ranitidine was on average two-fold more potent in inhibiting the common OCT1*2 variant than the reference OCT1 allele.", - "The genotype-dependent differences were most prominent when inhibiting morphine (IC50 of 19.5 and 45.5 \u03bcM for OCT1*2 and 1, respectively) and least prominent when inhibiting metformin (IC50 of 14.8 and 20.9 \u03bcM for OCT1*2 and 1, respectively)." - ], - "p_value_citations": [] - }, - { - "gene": "OCT2", - "polymorphism": { - "value": "Ala270Ser", - "link": "No Match Found" - }, - "drug": { - "value": "ranitidine", - "link": "https://www.clinpgx.org/chemical/PA451224" - }, - "relationship_effect": "No significant effect of the Ala270Ser polymorphism on OCT2-mediated ranitidine uptake.", - "p_value": "Not significant (9% reduction, P not significant)", - "citations": [ - "In comparison to the Ala270 allele, the Ser270 allele showed a limited reduction of ranitidine uptake by 9% which was not significant ([Fig 4B](#pone.0189521.g004)Fig 4B).", - "Furthermore, the OCT2-mediated uptake of ranitidine was not substantially affected by the Ala270Ser substitution, the only common genetic polymorphism suggested to affect OCT2 function [[47](#pone.0189521.ref047)47].", - "OCT2 showed only a limited uptake of ranitidine that was not significantly affected by the Ala270Ser polymorphism." - ], - "p_value_citations": [] - } - ] - } -} \ No newline at end of file diff --git a/data/annotations/PMC5749368.json b/data/annotations/PMC5749368.json deleted file mode 100644 index 054cf7a..0000000 --- a/data/annotations/PMC5749368.json +++ /dev/null @@ -1,155 +0,0 @@ -{ - "pmcid": "PMC5749368", - "title": "Genetics and clinical response to warfarin and edoxaban in patients with venous thromboembolism", - "study_parameters": { - "summary": { - "content": "The study aimed to determine if genetic variants could identify patients with venous thromboembolism (VTE) at increased risk of bleeding when treated with warfarin. Conducted as a subanalysis of the Hokusai VTE trial, it involved genotyping patients for CYP2C9 and VKORC1 variants to classify them into warfarin sensitivity types. The results showed that sensitive and highly sensitive responders, as defined by their genotypes, had a higher risk of bleeding, spent more time overanticoagulated, and required lower warfarin doses compared to normal responders, highlighting the potential of genetic testing in managing warfarin therapy.", - "citations": [ - "Compared with normal responders, sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time overanticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).", - "The results of this analysis extend the results of the previous ENGAGE AF-TIMI 48 pharmacogenetic analysis to demonstrate that patients with VTE who have a sensitive or highly sensitive warfarin genotype spend more time overanticoagulated, require a lower warfarin dose and have higher bleeding rates with warfarin therapy.", - "In this study, CYP2C9 and VKORC1 genotypes identified patients with VTE at increased bleeding risk with warfarin." - ] - }, - "study_type": { - "content": "Clinical trial, prospective, replication", - "citations": [ - "Hokusai-venous thromboembolism (Hokusai VTE), a randomised, multinational, double-blind, non-inferiority trial, evaluated the safety and efficacy of edoxaban versus warfarin in patients with VTE initially treated with heparin.", - "The present analysis was designed to replicate the ENGAGE AF-TIMI 48 findings and examine whether the previous results could be extended to patients with VTE.", - "The present pharmacogenetic subanalysis of the Hokusai VTE trial was designed to confirm and extend the results of the previously reported ENGAGE AF-TIMI 48 pharmacogenetic analysis in a distinct population of patients with VTE requiring a similar treatment." - ] - }, - "participant_info": { - "content": [ - "**Age (mean \u00b1 SD):** 55.3 \u00b1 15.92 years for normal responders, 56.5 \u00b1 15.58 years for sensitive responders, 56.3 \u00b1 17.47 years for highly sensitive responders.", - "**Gender (male, %):** 60.4% for normal responders, 58.7% for sensitive responders, 53.4% for highly sensitive responders.", - "**Ethnicity (%):**", - "Caucasian: 82.6% normal responders, 82.1% sensitive responders, 82.4% highly sensitive responders.", - "Black: 6.0% normal responders, 0.4% sensitive responders, 0% highly sensitive responders.", - "Asian: 4.6% normal responders, 11.5% sensitive responders, 11.5% highly sensitive responders.", - "Other: 6.7% normal responders, 5.6% sensitive responders, 5.3% highly sensitive responders.", - "**Weight (mean \u00b1 SD):** 85.5 \u00b1 19.42 kg for normal responders, 83.7 \u00b1 19.25 kg for sensitive responders, 83.2 \u00b1 19.91 kg for highly sensitive responders.", - "**BMI (mean \u00b1 SD):** 28.8 \u00b1 5.95 kg/m\u00b2 for normal responders, 28.3 \u00b1 5.45 kg/m\u00b2 for sensitive responders, 28.5 \u00b1 6.40 kg/m\u00b2 for highly sensitive responders.", - "**Creatinine clearance (mean \u00b1 SD):** 108.5 \u00b1 40.14 mL/min for normal responders, 106.2 \u00b1 39.69 mL/min for sensitive responders, 103.8 \u00b1 40.62 mL/min for highly sensitive responders.", - "**Edoxaban dose adjusted at randomisation (%):** 12.0% for normal responders, 15.2% for sensitive responders, 13.0% for highly sensitive responders." - ], - "citations": [ - "In general, the baseline and clinical characteristics were similar across the genotype categories.", - "However, a larger proportion of sensitive and highly sensitive responders were of Asian ancestry relative to normal responders ([table 1](#T1)table 1)." - ] - }, - "study_design": { - "content": [ - "**Study design:** Randomised, multinational, double-blind, non-inferiority trial.", - "**Trial name:** Hokusai-venous thromboembolism (Hokusai VTE).", - "**Objective:** Evaluate the safety and efficacy of edoxaban versus warfarin in patients with venous thromboembolism (VTE) initially treated with heparin.", - "**Genetic analysis:** Subanalysis focused on genotyping for variants in CYP2C9 and VKORC1 genes to categorize warfarin sensitivity.", - "**Study population:** Patients with acute, symptomatic VTE (deep vein thrombosis, pulmonary embolism, or both).", - "**Sample size:** 8292 patients enrolled; 3956 patients included in the genetic subanalysis.", - "**Randomisation:** 1:1 to receive either edoxaban 60 mg once daily or warfarin.", - "**Inclusion criteria:** Patients \u226518 years with diagnosed acute, symptomatic VTE.", - "**Exclusion criteria:** Contraindications to heparin or warfarin, prior extensive heparin or VKA treatment, certain cancer treatments, and specific medication use.", - "**Genotyping method:** Sequenom technology for CYP2C9 *2, CYP2C9 *3, and VKORC1 -1639 G\u2192A alleles.", - "**Statistical analysis:** Conducted using SAS V.9.3 or higher, with significance level set at 0.05." - ], - "citations": [ - "Hokusai-venous thromboembolism (Hokusai VTE), a randomised, multinational, double-blind, non-inferiority trial, evaluated the safety and efficacy of edoxaban versus warfarin in patients with VTE initially treated with heparin.", - "The Hokusai VTE trial enrolled 8292 patients from 439 centres worldwide.", - "Genotypes were determined for CYP2C9 *2 and CYP2C9 *3 (rs1799853 and rs1057910, respectively) and VKORC1 -1639 G\u2192A alleles (rs9923231) in accordance with Good Laboratory Practice guidelines by ILS Genomics (Morrisville, North Carolina, USA) with an analytically validated assay using Sequenom (San Diego, California, USA) technology." - ] - }, - "study_results": { - "content": [ - "**Study Population:** 47.7% (3956/8292) of patients in Hokusai VTE were included; 1978 were randomized to warfarin.", - "**Warfarin Sensitivity Distribution:** 63.0% (1247) normal responders, 34.1% (675) sensitive responders, 2.8% (56) highly sensitive responders.", - "**Heparin Discontinuation:** Sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001).", - "**Warfarin Dose:** Sensitive and highly sensitive responders had a decreased final weekly warfarin dose (p<0.001).", - "**Overanticoagulation:** Sensitive and highly sensitive responders spent more time overanticoagulated (p<0.001).", - "**Bleeding Risk:** Sensitive responders had an increased bleeding risk with warfarin (HR 1.38 [95% CI 1.11 to 1.71], p=0.0035); highly sensitive responders (HR 1.79 [1.09 to 2.99], p=0.0252)." - ], - "citations": [ - "The analysis included 47.7% (3956/8292) of the patients in Hokusai VTE.", - "Among 1978 patients randomised to warfarin, 63.0% (1247) were normal responders, 34.1% (675) were sensitive responders and 2.8% (56) were highly sensitive responders.", - "Compared with normal responders, sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time overanticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252)." - ] - }, - "allele_frequency": { - "content": [ - "**CYP2C9 and VKORC1 polymorphisms:** The polymorphisms were in Hardy-Weinberg equilibrium for all three race groups examined (Caucasians, African Americans, and East Asians), and the observed allele frequencies within each race group were consistent with previously published findings.", - "**CYP2C9 alleles:** The alleles associated with increased warfarin sensitivity are more common in individuals of European descent compared with African or Asian descent.", - "**VKORC1 allele:** The allele associated with the greatest increase in warfarin sensitivity is most prevalent in individuals of Asian descent." - ], - "citations": [ - "The CYP2C9 and VKORC1 polymorphisms were in Hardy-Weinberg equilibrium for all three race groups examined (ie, Caucasians, African Americans and East Asians), and the observed allele frequencies within each race group were consistent with previously published findings (online supplementary table 1).[11]", - "The CYP2C9 alleles that are the most associated with increased warfarin sensitivity are more common in individuals of European descent compared with African or Asian descent.[11]", - "Conversely, the prevalence of the VKORC1 allele that is associated with greatest increase in warfarin sensitivity is the highest in individuals of Asian descent.[11 12]" - ] - }, - "additional_resource_links": [ - "The study provides the following additional resources or links related to its design and execution:", - "- [ClinicalTrials.gov: NCT00986154](https://clinicaltrials.gov/ct2/show/NCT00986154)", - "- [PDF of the article](https://pmc.ncbi.nlm.nih.gov/articles/PMC5749368/pdf/heartjnl-2016-310901.pdf)", - "- [Supplementary Materials PDF](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749368/bin/heartjnl-2016-310901supp001.pdf)" - ] - }, - "annotations": { - "relationships": [ - { - "gene": "CYP2C9", - "polymorphism": { - "value": "*2 (rs1799853)", - "link": "https://www.clinpgx.org/variant/PA166153972" - }, - "drug": { - "value": "Warfarin", - "link": "https://www.clinpgx.org/chemical/PA451906" - }, - "relationship_effect": "Carriers of CYP2C9*2 have increased sensitivity to warfarin, require lower final weekly warfarin doses, spend more time overanticoagulated, and have increased bleeding risk compared to normal responders.", - "p_value": "p<0.001 for dose and overanticoagulation; HR for sensitive responders 1.38 [95% CI 1.11 to 1.71], p=0.0035; HR for highly sensitive responders 1.79 [1.09 to 2.99], p=0.0252", - "citations": [ - "Compared with normal responders, sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time overanticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).", - "The present pharmacogenetic subanalysis of the Hokusai-venous thromboembolism (Hokusai VTE) trial, a trial evaluating edoxaban versus warfarin in patients with VTE initially treated with heparin, demonstrates that patients with VTE who have a sensitive or highly sensitive warfarin genotype spend more time overanticoagulated (p<0.001), require a lower warfarin dose (p<0.001) and have higher bleeding rates with warfarin therapy (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).", - "The results of this analysis extend the results of the previous ENGAGE AF-TIMI 48 pharmacogenetic analysis to demonstrate that patients with VTE who have a sensitive or highly sensitive warfarin genotype spend more time overanticoagulated, require a lower warfarin dose and have higher bleeding rates with warfarin therapy." - ], - "p_value_citations": [] - }, - { - "gene": "CYP2C9", - "polymorphism": { - "value": "*3 (rs1057910)", - "link": "https://www.clinpgx.org/variant/PA166153959" - }, - "drug": { - "value": "Warfarin", - "link": "https://www.clinpgx.org/chemical/PA451906" - }, - "relationship_effect": "Carriers of CYP2C9*3 have increased sensitivity to warfarin, require lower final weekly warfarin doses, spend more time overanticoagulated, and have increased bleeding risk compared to normal responders.", - "p_value": "p<0.001 for dose and overanticoagulation; HR for sensitive responders 1.38 [95% CI 1.11 to 1.71], p=0.0035; HR for highly sensitive responders 1.79 [1.09 to 2.99], p=0.0252", - "citations": [ - "Compared with normal responders, sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time overanticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).", - "The present pharmacogenetic subanalysis of the Hokusai-venous thromboembolism (Hokusai VTE) trial, a trial evaluating edoxaban versus warfarin in patients with VTE initially treated with heparin, demonstrates that patients with VTE who have a sensitive or highly sensitive warfarin genotype spend more time overanticoagulated (p<0.001), require a lower warfarin dose (p<0.001) and have higher bleeding rates with warfarin therapy (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).", - "The results of this analysis extend the results of the previous ENGAGE AF-TIMI 48 pharmacogenetic analysis to demonstrate that patients with VTE who have a sensitive or highly sensitive warfarin genotype spend more time overanticoagulated, require a lower warfarin dose and have higher bleeding rates with warfarin therapy." - ], - "p_value_citations": [] - }, - { - "gene": "VKORC1", - "polymorphism": { - "value": "rs9923231 (-1639 G>A)", - "link": "No Match Found" - }, - "drug": { - "value": "Warfarin", - "link": "https://www.clinpgx.org/chemical/PA451906" - }, - "relationship_effect": "Carriers of VKORC1 -1639A allele have increased sensitivity to warfarin, require lower final weekly warfarin doses, spend more time overanticoagulated, and have increased bleeding risk compared to normal responders.", - "p_value": "p<0.001 for dose and overanticoagulation; HR for sensitive responders 1.38 [95% CI 1.11 to 1.71], p=0.0035; HR for highly sensitive responders 1.79 [1.09 to 2.99], p=0.0252", - "citations": [ - "Compared with normal responders, sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time overanticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).", - "The present pharmacogenetic subanalysis of the Hokusai-venous thromboembolism (Hokusai VTE) trial, a trial evaluating edoxaban versus warfarin in patients with VTE initially treated with heparin, demonstrates that patients with VTE who have a sensitive or highly sensitive warfarin genotype spend more time overanticoagulated (p<0.001), require a lower warfarin dose (p<0.001) and have higher bleeding rates with warfarin therapy (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).", - "In addition, among patients randomised to warfarin, sensitive and highly sensitive responders experienced significantly more bleeding events sooner than normal responders during the first 90 days of treatment (HR: sensitive responder, 1.38 [95% CI 1.11 to 1.71], p=0.004; highly sensitive responders, 1.79 [1.09 to 2.99]; p=0.03)." - ], - "p_value_citations": [] - } - ] - } -} \ No newline at end of file diff --git a/data/benchmark/column_mapping.json b/data/benchmark/column_mapping.json deleted file mode 100644 index 5955d85..0000000 --- a/data/benchmark/column_mapping.json +++ /dev/null @@ -1,27 +0,0 @@ -{ - "pmcid": "pmcid", - "article_title": "article_title", - "article_path": "article_path", - "Variant Annotation ID": "variant_annotation_id", - "Variant/Haplotypes": "variant_haplotypes", - "Gene": "gene", - "Drug(s)": "drugs", - "PMID": "pmid", - "Phenotype Category": "phenotype_category", - "Significance": "significance", - "Notes": "notes", - "Sentence": "sentence", - "Alleles": "alleles", - "Specialty Population": "specialty_population", - "Metabolizer types": "metabolizer_types", - "isPlural": "is_plural", - "Is/Is Not associated": "is_is_not_associated", - "Direction of effect": "direction_of_effect", - "PD/PK terms": "pd_pk_terms", - "Multiple drugs And/or": "multiple_drugs_and_or", - "Population types": "population_types", - "Population Phenotypes or diseases": "population_phenotypes_or_diseases", - "Multiple phenotypes or diseases And/or": "multiple_phenotypes_or_diseases_and_or", - "Comparison Allele(s) or Genotype(s)": "comparison_alleles_or_genotypes", - "Comparison Metabolizer types": "comparison_metabolizer_types" -} \ No newline at end of file diff --git a/data/benchmark/test.jsonl b/data/benchmark/test.jsonl deleted file mode 100644 index 86a37b6..0000000 --- a/data/benchmark/test.jsonl +++ /dev/null @@ -1,453 +0,0 @@ -{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928789,"variant_haplotypes":"rs2472553","gene":"CHRNA2","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of genotype on likelihood of being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bupropion, nicotine or varenicline in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438527,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4425504","article_title":"Association between Polymorphisms in Vascular Endothelial Growth Factor Gene and Response to Chemotherapies in Colorectal Cancer: A Meta-Analysis","article_path":"articles/PMC4425504.md","variant_annotation_id":1444842405,"variant_haplotypes":"rs833061","gene":"VEGFA","drugs":"bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin","pmid":25955730,"phenotype_category":"Efficacy","significance":"no","notes":"Response was determined by RECIST criteria. In a subgroup analysis excluding the use of anti-angiogenic agents (e.g. bevacuzimab) no significant association was found for any genotypes and response to chemotherapy.","sentence":"Allele C is not associated with response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165334,"variant_haplotypes":"rs9344","gene":"CCND1","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 5 studies. This variant was listed as rs17852153 in the original article. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele A is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10908252","article_title":"Methadone pharmacogenetics in vitro and in vivo: Metabolism by CYP2B6 polymorphic variants and genetic variability in pediatric disposition","article_path":"articles/PMC10908252.md","variant_annotation_id":1451781260,"variant_haplotypes":"CYP2B6*1, CYP2B6*6, CYP2B6*7, CYP2B6*9, CYP2B6*18","gene":"CYP2B6","drugs":"(S)-methadone","pmid":35538637,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"effect was reported as \"S-methadone clearance was significantly associated with CYP2B6 polymorphisms,; specifically the number of CYP2B6 slow metabolizer alleles\" and listed \"CYP2B6 slow metabolizer alleles in the study population included *6,*7,*9,*18\"","sentence":"CYP2B6 *6 + *7 + *9 + *18 is associated with decreased clearance of (S)-methadone in children with Scoliosis as compared to CYP2B6 *1/*1.","alleles":"*6 + *7 + *9 + *18","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Scoliosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1184747531,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"atazanavir, ritonavir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":"atazanavir boosted with ritonavir","sentence":"Genotypes AA + AG is not associated with increased discontinuation of atazanavir and ritonavir in people with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639154,"variant_haplotypes":"rs2267715","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele G is associated with decreased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3131846","article_title":"Interactive Modeling for Ongoing Utility of Pharmacogenetic Diagnostic Testing: Application for Warfarin Therapy","article_path":"articles/PMC3131846.md","variant_annotation_id":1183701300,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19679631,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"The plasma S-warfarin concentration required to yield the target INR response for each genotype: CC, 0.68 mg/L; TC, 0.48 mg/L; TT, 0.27 mg/L.","sentence":"Allele T is associated with increased response to warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3653303","article_title":"IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in chronic hepatitis C patients","article_path":"articles/PMC3653303.md","variant_annotation_id":981481534,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":20931559,"phenotype_category":"Efficacy","significance":"yes","notes":"The subtype of peginterferon alpha was not specified. The association was with SVR(sustained viral response). Patients were monoinfected with HCV genotype 1. Nonresponders and relapsers were grouped together. Allele frequency listed is for entire cohort of 61.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756073,"variant_haplotypes":"rs1554203","gene":"AQP9","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6631257","article_title":"A Single Site Population Study to Investigate CYP2D6 Phenotype of Patients with Persistent Non-Malignant Pain","article_path":"articles/PMC6631257.md","variant_annotation_id":1451351660,"variant_haplotypes":"CYP2D6 normal metabolizers","gene":"CYP2D6","drugs":"codeine","pmid":31141989,"phenotype_category":"Efficacy","significance":"not stated","notes":"All CYP2D6 PMs, IMs and UMs in the study cohort were categorized as non-responders to codeine. Patients were genotyped for the *1, *2, *3, *4, *5, *6, *9, *10, *41 alleles as well as for allele duplication. Note that patients with a CYP2D6 activity score of 1 were assigned as normal metabolizers.","sentence":"CYP2D6 normal metabolizer is associated with increased response to codeine in people with Pain as compared to CYP2D6 intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} -{"pmcid":"PMC4956330","article_title":"Prediction of Warfarin Dose in Pediatric Patients: An Evaluation of the Predictive Performance of Several Models","article_path":"articles/PMC4956330.md","variant_annotation_id":1448255587,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":27453700,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"CYP2C9 *3 is associated with dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1.","alleles":"*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3448899","article_title":"The paraoxonase-1 pathway is not a major bioactivation pathway of clopidogrel in vitro","article_path":"articles/PMC3448899.md","variant_annotation_id":1184472453,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":22428615,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This comparison was done in pooled human liver microsomes. Production of clopidogrel's active metabolite from 2-oxo-clopidogrel was measured.","sentence":"CYP2C19 *2/*2 is associated with decreased metabolism of clopidogrel as compared to CYP2C19 *1/*1.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5763654","article_title":"Monitoring of peripheral blood cluster of differentiation 4+ adenosine triphosphate activity and CYP3A5 genotype to determine the pharmacokinetics, clinical effects and complications of tacrolimus in patients with autoimmune diseases","article_path":"articles/PMC5763654.md","variant_annotation_id":1449172092,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29375701,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *1/*1 + *1/*3 genotypes had lower tacrolimus concentrations (p=0.0108) and concentration/dose ratio (p=0.0056) as compared to those with the *3/*3 genotype.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased concentrations of tacrolimus in people with Autoimmune Diseases as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autoimmune Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC10583240","article_title":"Population pharmacokinetic analyses for belzutifan to inform dosing considerations and labeling","article_path":"articles/PMC10583240.md","variant_annotation_id":1452212720,"variant_haplotypes":"UGT2B17 poor metabolizer","gene":"UGT2B17","drugs":"belzutifan","pmid":37596839,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"variants genotyped are not specified, nor are which variants are considered PM. \"A population pharmacokinetic (PK) model was built, using NONMEM\u00ae v7.3, based on demographics/PK data from 3 clinical pharmacology (food effect, formulation bridging, genotype/race effect) and 2 clinical (phase 1 dose escalation/expansion in RCC and other solid tumors; phase 2 in VHL patients) studies.\" \"UGT2B17 and CYP2C19 poor metabolizers (PM) were estimated to have a 3.2-fold higher area under the plasma concentration-time curve (AUC) compared to UGT2B17 extensive metabolizer and CYP2C19 non-PM patients.\"","sentence":"UGT2B17 poor metabolizer is associated with increased concentrations of belzutifan in people with von Hippel-Lindau Disease or Carcinoma, Renal Cell.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:von Hippel-Lindau Disease, Other:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359247,"variant_haplotypes":"rs3842727","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele T is not associated with response to heroin as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374173,"variant_haplotypes":"CYP2D6 poor and ultrarapid metabolizers","gene":"CYP2D6","drugs":"methadone","pmid":30907440,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and ultrarapid metabolizer are not associated with dose of methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3044738","article_title":"Response Prediction in Chronic Hepatitis C by Assessment of IP-10 and IL28B-Related Single Nucleotide Polymorphisms","article_path":"articles/PMC3044738.md","variant_annotation_id":982031608,"variant_haplotypes":"rs12980275","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":21390311,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was associated with response in univariate analysis, but not in multivariate analysis. Significantly lower baseline plasma levels of IP-10 were associated with this SNP. Lower levels of IP-10 were found to be statistically significantly associated with better treatment outcome.","sentence":"Genotype AA is not associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928104,"variant_haplotypes":"rs10012","gene":"CYP1B1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The C allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele C is associated with decreased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3594083","article_title":"Pharmacokinetics of Intravenous Voriconazole in Obese Patients: Implications of CYP2C19 Homozygous Poor Metabolizer Genotype","article_path":"articles/PMC3594083.md","variant_annotation_id":1444828153,"variant_haplotypes":"CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":23400848,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report: 17 yo Hispanic obese (BMI: 35) male receiving voriconazole for suspected aspergillosis. Elevated levels remained elevated (5.8 ug/ml) despite decreased dose to 4mg/kg every 12 hours. Drug discontinued due to QTc prolongation possibly related to electrolyte abnormalities and elevated voriconazole concentrations.","sentence":"CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased concentrations of voriconazole.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666926,"variant_haplotypes":"rs3774261","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%). The AA genotype was associated with a greater decrease in waist circumference as compared to the AG and GG genotypes after pioglitazone therapy (p=0.019) although the AG and GG genotypes were associated with a greater decrease in fasting insulin as compared to the AA genotype (p=0.03).","sentence":"Genotypes AG + GG are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694818,"variant_haplotypes":"rs1800566","gene":"NQO1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"yes","notes":"Response refers to survival (progression free and overall). rs1800566 AG/AA genotype was an independent predictive factor of poor PFS. Please note: the alleles reported here are complemented to the + chromosomal strand.","sentence":"Genotypes AA + AG are associated with decreased response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4502741","article_title":"Normalization of Sweat Chloride Concentration and Clinical Improvement With Ivacaftor in a Patient With Cystic Fibrosis With Mutation S549N","article_path":"articles/PMC4502741.md","variant_annotation_id":1183960311,"variant_haplotypes":"rs121908755","gene":"CFTR","drugs":"ivacaftor","pmid":24081349,"phenotype_category":"Efficacy","significance":"not stated","notes":"A girl with rapidly advancing lung disease was treated with ivacaftor and after 6 weeks of treatment showed clinical improvement (including normalization of sweat chloride, cough was cleared within 3 weeks, ability to engage in school exercise classes by 4 weeks, weight gain, and significantly improved lung function). She had the gating variant CFTR S549N, as well as the class I CFTR variant 1811+1.6kbA>G.","sentence":"Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4522133","article_title":"Limited predictive value of achieving beneficial plasma (Z)-endoxifen threshold level by CYP2D6 genotyping in tamoxifen-treated Polish women with breast cancer","article_path":"articles/PMC4522133.md","variant_annotation_id":1448261039,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6","gene":"CYP2D6","drugs":"endoxifen","pmid":26232141,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Pre- and post menopausal patients received 20 mg/day tamoxifen for at least 1 month (median duration 21.5 month). DNA source was blood and CYP2D6 was genotyped with TaqMan allelic discrimination assays. PM (non-functional) alleles include: CYP2D6*3, *4, *5, *6, *7; IM (reduced function) alleles include: CYP2D6*9, *10, *17, *41; EM (wt; fully functional) alleles include CYP2D6*1 and *2; UM (increased function) alleles include: duplication of EM variants of the gene, such as CYP2D6*1XN and *2XN. Patients were assigned a CYP2D6 genotype depending on the combination of alleles they carry, as PM/PM, IM/PM, IM/IM, EM/PM, EM/IM, EM/EM or EM/UM.","sentence":"CYP2D6 *4/*4 + *3/*4 + *4/*5 + *4/*6 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*2 + *1/*1 + *2/*2.","alleles":"*4/*4 + *3/*4 + *4/*5 + *4/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*1 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC2992873","article_title":"Genetic Variation of VKORC1 and CYP4F2 Genes Related to Warfarin Maintenance Dose in Patients with Myocardial Infarction","article_path":"articles/PMC2992873.md","variant_annotation_id":981500599,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":21127708,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"This SNP showed a weak but not significant association with dosage when analyzed alone, and when analyzed with CYP2C9*2,CYP2C9*3 and VKORC1*2, also provided no significant contribution.","sentence":"Allele C is not associated with dose of warfarin in people with Myocardial Infarction as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Myocardial Infarction","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4615595","article_title":"Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response","article_path":"articles/PMC4615595.md","variant_annotation_id":982044434,"variant_haplotypes":"rs1205","gene":"CRP","drugs":"fenofibrate","pmid":18285551,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change of C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, was seen between genotypes. In strong linkage disequilibrium with rs3091244 and rs1417938 (r2 = 0.4 - 0.9, p < 0.001) and in weak linkage disequilibrium with rs3093059 (r2 = 0.17, p < 0.05).","sentence":"Genotype CC is not associated with response to fenofibrate in people with Metabolic Syndrome as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metabolic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5373543","article_title":"Pharmacogenomics study on cadherin 2 network with regard to HIV infection and methadone treatment outcome","article_path":"articles/PMC5373543.md","variant_annotation_id":1448995536,"variant_haplotypes":"rs17446819","gene":"CDH2","drugs":"methadone","pmid":28358908,"phenotype_category":"Efficacy","significance":"yes","notes":"Association between SNP and response to methadone is not directly shown in the paper. Genotype AA is associated with increased concentrations of CDH2 in plasma and individuals with increased CDH2 levels had an improved response to methadone treatment (p=0.005).","sentence":"Genotype CC is associated with increased response to methadone as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994415,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Allele also known as CYP2B6*6.","sentence":"Genotype TT is associated with increased concentrations of efavirenz in children with HIV Infections.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2943151","article_title":"Dual specificity phosphatase-1 as a pharmacogenetic modifier of inhaled steroid response among asthma patients","article_path":"articles/PMC2943151.md","variant_annotation_id":769174083,"variant_haplotypes":"rs881152","gene":"DUSP1","drugs":"salbutamol","pmid":20673984,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were taking inhaled corticosteroids. When the Puerto-Rican and Mexican American cohorts from the GALA study were analyzed separately, the same association was significant in the Puerto-Ricans but not in the Mexican Americans.","sentence":"Allele G is associated with increased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4542662","article_title":"Combined Effect of CYP2B6 and NAT2 Genotype on Plasma Efavirenz Exposure During Rifampin-based Antituberculosis Therapy in the STRIDE Study","article_path":"articles/PMC4542662.md","variant_annotation_id":1452644100,"variant_haplotypes":"CYP2B6 poor metabolizer","gene":"CYP2B6","drugs":"efavirenz","pmid":25722197,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Genotype for metabolizer status determined from rs3745274, rs28399499, and rs4803419. Patients were taking both efavirenz and antituberculosis therapy. \"In participants with CYP2B6 extensive and intermediate metabolizer genotypes, only small differences between efavirenz Cmin concentrations on antituberculosis therapy and off antituberculosis therapy were seen for all NAT2 metabolizer genotypes. In contrast, among the 4 participants with both CYP2B6 and NAT2 slow metabolizer genotypes, efavirenz Cmin concentrations were substantially elevated on antituberculosis therapy compared to off antituberculosis therapy, with differences exceeding 8 \u00b5g/mL in 3 of these 4 participants; this was not statistically significant in this subset. One individual with slow CYP2B6 and intermediate NAT2 metabolizer genotypes had a considerably larger efavirenz Cmin concentration on vs off antituberculosis treatment.\"","sentence":"CYP2B6 poor metabolizer is associated with increased concentrations of efavirenz in people with HIV infectious disease and Tuberculosis as compared to CYP2B6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2957581","article_title":"Effects of erythromycin on voriconazole pharmacokinetics and association with CYP2C19 polymorphism","article_path":"articles/PMC2957581.md","variant_annotation_id":1183848503,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":20669013,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors report that extensive metabolizers (*1/*1) and heterozygote extensive metabolizers (*1/*2 or *1/*3) had decreased elimination half life (hours), AUC (0-24, 0-infinity) (h*\u00b5g/mL), and increased apparent oral clearance (mL/min) of voriconazole when compared to poor metabolizers (*2/*2 +*2/*3). No significant difference was reported when comparing the same PK parameters between *1/*1 to *1/*2+*1/*3. Additionally, no significant differences were seen for maximum plasma concentrations (Cmax) or time to Cmax (Tmax).","sentence":"CYP2C19 *2/*2 + *2/*3 (assigned as poor metabolizer phenotype) is associated with decreased metabolism of voriconazole in healthy individuals as compared to CYP2C19 *1/*1 + *1/*2 + *1/*3.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994455,"variant_haplotypes":"rs41303343","gene":"CYP3A5","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.; Allele also known as CYP3A5*7","sentence":"Allele A is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele del.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680156,"variant_haplotypes":"rs144315541","gene":"ADCY9","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation. This was assessed as a replication attempt for a previously reported association of a different ADCY9 SNP with response to bronchodilators. Bonferroni correction was performed according to the number of SNPs included that are within 50 kb up and downstream of ADCY9.","sentence":"Genotype AG is associated with increased response to salbutamol in children with Asthma as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694633,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"no","notes":"158/220 patients had the target INR (1.5\u20132.5). The comparison of weekly warfarin maintenance dose was among patients of different genotypes. Differences in maintenance dose were not observed in patients with variant genotypes of CYP4F2 s2108622. Please note: the alleles are complemented to the + chromosomal strand.","sentence":"Genotypes CT + TT are not associated with dose of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002484,"variant_haplotypes":"rs2891356","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane. Did not reach statistical significance for GWAS (P<5 x 10^-8).","sentence":"Allele G is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705084,"variant_haplotypes":"rs28416813","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793982,"variant_haplotypes":"rs12648166","gene":"DCK","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype AA is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373239,"variant_haplotypes":"rs3192723","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"Patients with the CC genotype had a lower 'negative rate of morphine urine test' than patients with the CT or TT genotypes. However, this SNP was not significantly associated with MMT compliance in the study.; Note that although this variant is located in MTRF1L, it is discussed in the paper as being an OPRM1 SNP.; Please note that alleles have been complemented to the positive strand.","sentence":"Genotype CC is associated with decreased response to methadone in people with Heroin Dependence as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4432150","article_title":"Influence of ABCC2 and ABCC4 Polymorphisms on Tenofovir Plasma Concentrations in Thai HIV-Infected Patients","article_path":"articles/PMC4432150.md","variant_annotation_id":1444703296,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"tenofovir","pmid":25801567,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CT + TT is not associated with concentrations of tenofovir in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5018246","article_title":"Clinical Evaluation of Cisplatin Sensitivity Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer","article_path":"articles/PMC5018246.md","variant_annotation_id":1448112545,"variant_haplotypes":"rs10964552","gene":"MLLT3","drugs":"cisplatin","pmid":27150640,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was significantly associated with stage A and \u221224C>T Polymorphisms on Lacosamide Efficacy and Plasma Concentrations in Uygur Pediatric Patients With Epilepsy in China","article_path":"articles/PMC9819208.md","variant_annotation_id":1451921146,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"lacosamide","pmid":36253887,"phenotype_category":"Efficacy","significance":"yes","notes":"\"the proportion of patients with the ABCC2 1249G>A (rs2273697) A; allele and ABCC2 -24C>T (rs717620) T allele in the drug-resistant group was; significantly higher than that in the drug-responsive group\"","sentence":"Allele T is associated with increased resistance to lacosamide in children with Epilepsy as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4812555","article_title":"Impact of the CYP4F2 gene polymorphisms on the warfarin maintenance dose: A systematic review and meta-analysis","article_path":"articles/PMC4812555.md","variant_annotation_id":1447983837,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":27073641,"phenotype_category":"Dosage","significance":"yes","notes":"22 studies with 4,549 were included in the meta-analysis. Most studies were in Chinese patients but 5 were not (2 Japanese, 1 Korean, 1 Indian, 1 Turkish) and one was in a non-specific \"Asian\" population. Most individuals were prescribed warfarin for heart valve replacement, AF, DVT, pulmonary embolism and stroke.","sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6923423","article_title":"Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects","article_path":"articles/PMC6923423.md","variant_annotation_id":1451124180,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"rosuvastatin","pmid":31857620,"phenotype_category":"Metabolism/PK","significance":"no","notes":"SLCO1B1 521T\u2009>\u2009C was also partially associated with a higher AUC of rosuvastatin in young subjects and a less pronounced increasing trend in elderly subjects (p\u2009>\u20090.05 for both). However, it was not statistically significant.","sentence":"Genotypes CC + CT are associated with increased concentrations of rosuvastatin as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359460,"variant_haplotypes":"rs129915","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of heroin in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767281,"variant_haplotypes":"rs3008608","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5980466","article_title":"Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation","article_path":"articles/PMC5980466.md","variant_annotation_id":1449191978,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"apixaban","pmid":29457840,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes AA + AG are not associated with clearance of apixaban in people with Atrial Fibrillation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10990950","article_title":"Effects of CYP2D6 gene polymorphism on plasma concentration and therapeutic effect of olanzapine","article_path":"articles/PMC10990950.md","variant_annotation_id":1452437311,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10, CYP2D6*34, CYP2D6*39","gene":"CYP2D6","drugs":"olanzapine","pmid":38576571,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"The EMs group showed a trend of lower olanzapine plasma concentrations and C/D ratios than the IMs group at different time points (Fig. 1A and B). Interestingly, the olanzapine concentration in the Unknowns group exhibited a noticeable decrease at 8 weeks, leading to a lower trend of concentrations compared to the other two groups (Fig. 1A and B). However, the difference was not statistically significant.\"\"The results showed no significant differences in plasma olanzapine concentrations, treatment response, or the occurrence of adverse effects among different CYP2D6 genotypes\"","sentence":"CYP2D6 *10/*10 (assigned as intermediate metabolizer phenotype) is associated with increased concentrations of olanzapine in people with Schizophrenia as compared to CYP2D6 *1/*1 + *1/*34 + *1/*39 + *2/*2 + *2/*34 + *2/*39 + *10/*39 + *39/*39 (assigned as normal metabolizer phenotype) .","alleles":"*10/*10","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*34 + *1/*39 + *2/*2 + *2/*34 + *2/*39 + *10/*39 + *39/*39","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767304,"variant_haplotypes":"rs35762933","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3555879","article_title":"ABCB1 Variation and Treatment Response in AIDS Patients: Initial Results of the Henan Cohort","article_path":"articles/PMC3555879.md","variant_annotation_id":982045422,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"lamivudine, nevirapine","pmid":23372834,"phenotype_category":"Efficacy","significance":"not stated","notes":"This paper was unclear as to which allele was associated with increased or decreased response as measured by change in CD4+ T cell counts. The significance of this association was greater if rs2032582 was included.","sentence":"Allele A is associated with response to lamivudine or nevirapine in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710914,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"4-hydroxytamoxifen, endoxifen, N-desmethyltamoxifen, tamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood.","sentence":"CYP3A5 *3 is not associated with concentrations of 4-hydroxytamoxifen, endoxifen, n-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5018246","article_title":"Clinical Evaluation of Cisplatin Sensitivity Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer","article_path":"articles/PMC5018246.md","variant_annotation_id":1448112449,"variant_haplotypes":"rs244898","gene":"RARS1","drugs":"cisplatin","pmid":27150640,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was significantly associated with complete pathologic response in the discovery cohort, but not the replication cohort.","sentence":"Genotype TT is associated with increased response to cisplatin in people with Urinary Bladder Neoplasms as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Urinary Bladder Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046684,"variant_haplotypes":"rs510335","gene":"F7","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype GG is not associated with increased dose of phenprocoumon as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8426351","article_title":"Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans","article_path":"articles/PMC8426351.md","variant_annotation_id":1451503688,"variant_haplotypes":"rs2266780","gene":"FMO3","drugs":"teneligliptin","pmid":34512362,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"effect described for (rs2266780/rs2266782). Significant for clearance, Cmax, and AUC.","sentence":"Genotypes AG + GG is associated with decreased clearance of teneligliptin in men as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC11913886","article_title":"Pharmacokinetic Profiles of Lansoprazole in Patients With Morbid Obesity Post\u2010Roux\u2010en\u2010Y Gastric Bypass Surgery","article_path":"articles/PMC11913886.md","variant_annotation_id":1453076880,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"lansoprazole","pmid":40098302,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Our findings support this evidence, as we observed that CYP2C19 normal metabolizers (CYP2C19 *1/*1) generally exhibit lower systemic exposure to lansoprazole at 6\u2009weeks post\u2010RYGB, with a significant reduction in Cmax. In contrast, no significant pharmacokinetic changes were observed in CYP2C19 intermediate metabolizers (CYP2C19 *1/*2 & *1/*3) post\u2010surgery. Based on these results, we suggest that CYP2C19 enzyme activity increases after RYGB surgery, particularly in CYP2C19 normal metabolizers. The increases in enzyme activity, leading to enhanced hepatic CL, are likely associated with weight reduction and decreased liver fat content, as described above.\"","sentence":"CYP2C19 *1/*1 is associated with decreased exposure to lansoprazole in people with history of gastric bypass surgery.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:history of gastric bypass surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7455128","article_title":"Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action","article_path":"articles/PMC7455128.md","variant_annotation_id":1451356940,"variant_haplotypes":"rs1437153","gene":null,"drugs":"anastrozole","pmid":32701512,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was measured by the decrease in estrogen levels over the course of treatment.","sentence":"Allele T is associated with decreased response to anastrozole in women with Breast Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3674704","article_title":"IL28B expression depends on a novel TT/-G polymorphism which improves HCV clearance prediction","article_path":"articles/PMC3674704.md","variant_annotation_id":1444706391,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":23712427,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype consists of T deletion adjacent to a T to G substitution (TT/-G) and is associated with sustained virological response (SVR).","sentence":"Genotype GG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes G/TT + TT/TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + TT/TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557881,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815067,"variant_haplotypes":"rs2164660","gene":"PDE4D","drugs":"quetiapine","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of A alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs17742120 and rs17382202.","sentence":"Allele A is associated with increased response to quetiapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3943570","article_title":"Inhaled corticosteroid treatment modulates ZNF432 gene variant's effect on bronchodilator response in asthmatics","article_path":"articles/PMC3943570.md","variant_annotation_id":1183698784,"variant_haplotypes":"rs3752120","gene":"ZNF432","drugs":"budesonide, corticosteroids, fluticasone propionate, fluticasone/salmeterol","pmid":24280104,"phenotype_category":"Efficacy","significance":"yes","notes":"This is stated as \"Having 2 copies of the mutant allele and not being treated with inhaled corticosteroids produces a higher bronchodilator response than having 2 mutant alleles and being treated with inhaled corticosteroids(ICS).\" By \"mutant\" allele, presumably the minor allele (T) is meant. CAMP has 3 arms: budesonide,nedocromil and placebo. Subjects in the budesonide arm were considered exposed to ICS. For LOCCS(which was used as a replication cohort), subjects who said that they had used ICS either daily or 2-6x/wk over the past 6 months were considered to have used ICS. Subjects who responded: \"1-2x/month\", \"<1x/month\" or \"never\" were considered to not have used ICS. A comparison between genotypes was not done. The authors state that the clinical implication is not clear,and that \"Inhaled corticosteroids appear to modulate the association of bronchodilator response with variant(s) in the ZNF432 gene among adults and children with asthma.\"","sentence":"Genotype TT is associated with decreased response to budesonide, corticosteroids, fluticasone propionate or fluticasone/salmeterol in people with Asthma.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811764,"variant_haplotypes":"rs506247","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and any individual item or total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele C is not associated with response to ethanol as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10275785","article_title":"Effect of NLRP3 inflammasome genes polymorphism on disease susceptibility and response to TNF-\u03b1 inhibitors in Iraqi patients with rheumatoid arthritis","article_path":"articles/PMC10275785.md","variant_annotation_id":1452143360,"variant_haplotypes":"rs2043211","gene":"CARD8","drugs":"etanercept, infliximab","pmid":37332933,"phenotype_category":"Efficacy","significance":"yes","notes":"caution, this is an A/T SNP in a gene on the minus strand. Authors show T as minor allele which suggests is reported on plus strand. Responders = \u0394DAS-28 \u2265 1.2 and DAS-28 \u2264 3.2, Non-responders = \u0394DAS-28 \u2264 1.2 and DAS28 \u2264 5.1 (Table 1)","sentence":"Genotype TT is associated with decreased response to etanercept or infliximab in people with Arthritis, Rheumatoid as compared to genotypes AA + AT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} -{"pmcid":"PMC11148365","article_title":"Meta-analysis of the effects of CYP3A5*3 gene polymorphisms on tacrolimus blood concentration and effectiveness in Chinese patients with membranous nephropathy","article_path":"articles/PMC11148365.md","variant_annotation_id":1452497240,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":38835664,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The meta-analysis results showed that at \u22641 month [SMD = \u22121.93, 95% CI (\u22122.79, \u22121.08), p < 0.001], 1\u20136 months [SMD = \u22122.25, 95% CI (\u22122.71, \u22121.79), p < 0.001], and \u22656 months [SMD = \u22122.36, 95% CI (\u22122.86, \u22121.86), p < 0.001], the TAC C0/D levels of CYP3A5 expressers in MN patients were lower than those of CYP3A5 non-expressers (Figure 3).\" \"AA + AG genotype (referred to as expressers) and the GG genotype (referred to as non-expressers)\"","sentence":"Genotypes CT + TT is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Glomerulonephritis, Membranous as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Glomerulonephritis, Membranous","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682476,"variant_haplotypes":"rs1801689","gene":"APOH","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele A is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930597,"variant_haplotypes":"rs3743074","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele G is not associated with exposure to nicotine in men as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10599059","article_title":"Association of DRD2, DRD4 and COMT genes variants and their gene-gene interactions with antipsychotic treatment response in patients with schizophrenia","article_path":"articles/PMC10599059.md","variant_annotation_id":1452288082,"variant_haplotypes":"rs1799978","gene":"DRD2","drugs":"haloperidol, olanzapine, perphenazine, quetiapine, risperidone","pmid":37880658,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. \"The G allele of DRD2 A-241G was associated with increased risk of resistant to treatment when compared to A allele (OR(95%CI): 3.661,P\u2009=\u20090.02,Table 2).\"","sentence":"Allele C is associated with increased resistance to haloperidol, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3476140","article_title":"Association study between clinical response to rizatriptan and some candidate genes","article_path":"articles/PMC3476140.md","variant_annotation_id":1452551180,"variant_haplotypes":"rs1137070","gene":"MAOA","drugs":"rizatriptan","pmid":17563839,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders to rizatriptan. Variant referred to in the paper as MAO-A EcoRV and mapped to rs1137070 by PharmGKB.","sentence":"Allele C is not associated with response to rizatriptan in people with Migraine without Aura as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4615534","article_title":"Comparison of Functional Variants in IFNL4 and IFNL3 for Association with Hepatitis C Virus Clearance","article_path":"articles/PMC4615534.md","variant_annotation_id":1445206674,"variant_haplotypes":"rs4803217","gene":"IFNL3","drugs":"peginterferon alfa-2a, ribavirin","pmid":26186989,"phenotype_category":"Efficacy","significance":"yes","notes":"in African-American patients. The associations were stronger for IFNL4-rs368234815 than rs4803217 for undetectable HCV RNA at week 24 in Virahep C (p=0.03) trial and week 20 in HALT-C (p=0.03) trial.","sentence":"Genotypes AC + CC are associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862151,"variant_haplotypes":"rs2075507","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs737866,rs7287550, rs5746849, rs740603, rs6269, rs2239393, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele G is associated with decreased dose of morphine in people with Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934425,"variant_haplotypes":"rs869312136","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the C allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Asp33Gly in the paper.","sentence":"Allele C is associated with increased response to migalastat in people with Fabry Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003206,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"noroxymorphone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Cmax and AUC for noroxymorphone were significantly lower in poor metabolizers than in ultrarapid metabolizers.","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of noroxymorphone in healthy individuals as compared to CYP2D6 ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"ultrarapid metabolizer"} -{"pmcid":"PMC8429954","article_title":"CYP2C19 Genotyping May Provide a Better Treatment Strategy when Administering Escitalopram in Chinese Population","article_path":"articles/PMC8429954.md","variant_annotation_id":1451505380,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"escitalopram","pmid":34512354,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Per Table 2: PM (N = 13), IM (N = 47), EM (N = 27)","sentence":"CYP2C19 *2/*2 +*3/*3 + *2/*3 (assigned as poor metabolizer phenotype) is associated with increased exposure to escitalopram in healthy individuals as compared to CYP2C19 *1/*1 + *1/*2 + *1/*3 (assigned as intermediate metabolizer and normal metabolizer phenotype) .","alleles":"*2/*2 +*3/*3 + *2/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *1/*3","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994449,"variant_haplotypes":"rs10264272","gene":"CYP3A5","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.; Allele also known as CYP3A5*6.","sentence":"Allele C is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4406866","article_title":"Association of OPRM1 A118G variant with risk of morphine-induced respiratory depression following spine fusion in adolescents","article_path":"articles/PMC4406866.md","variant_annotation_id":1445296785,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":25266679,"phenotype_category":"Efficacy","significance":"yes","notes":"Presence of the G allele was associated with higher pain scores in patients taking morphine. Otherwise healthy adolescents undergoing spinal fusion for scoliosis.","sentence":"Genotypes AG + GG is associated with decreased response to morphine in children as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896077,"variant_haplotypes":"rs2377898","gene":"MTCL1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11803932","article_title":"Drug response is related to NR3C1 and FAAH polymorphism in Chinese pediatric epilepsy patients","article_path":"articles/PMC11803932.md","variant_annotation_id":1452840740,"variant_haplotypes":"rs41423247","gene":"NR3C1","drugs":"antiepileptics","pmid":39920787,"phenotype_category":"Efficacy","significance":"yes","notes":"From table 4. \"The frequency of the C allele was significantly higher in the good response group than in the poor response group (P\u2009<\u20090.001, Table 4). \"In genetic model analysis, the dominant model of rs41423247 showed a difference between the good response group and the poor response group (P\u2009<\u20090.001, Table 5)\" \"In our study, we found a correlation between NR3C1 and drug response to ASM treatment in Chinese pediatric epilepsy patients, mainly in the form of CG genotype, and C allele is associated with a good response to the drug, suggesting that the NR3C1 rs41423247 polymorphism may affect the therapeutic effect of ASM in epilepsy patients.\" Drugs not specified.","sentence":"Genotype GG is associated with decreased clinical benefit to antiepileptics in children with Epilepsy as compared to genotypes CC + CG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479763,"variant_haplotypes":"rs2213712","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613498,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.","sentence":"Allele T is not associated with dose of selumetinib in healthy individuals as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4002408","article_title":"Lack of effect of genetic polymorphisms of SLCO1B1 on the lipid-lowering response to pitavastatin in Chinese patients","article_path":"articles/PMC4002408.md","variant_annotation_id":1451451700,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"pitavastatin","pmid":20140004,"phenotype_category":"Efficacy","significance":"no","notes":"There was no statistical difference among patients with wild type, SLCO1B1 388A>G or SLCO1B1 521T>C in the lipid-lowering efficacy of pitavastatin in Chinese patients with essential hyperlipidemia.","sentence":"Genotypes CC + CT are not associated with response to pitavastatin in people with Hyperlipidemias as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10309098","article_title":"Pharmacogenetic interactions of efavirenz or rifampin and isoniazid with levonorgestrel emergency contraception during treatment of HIV or tuberculosis","article_path":"articles/PMC10309098.md","variant_annotation_id":1452473020,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"levonorgestrel","pmid":37306344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Study investigated the effect on steady-state drugs used to treat HIV or tuberculosis on the pharmacokinetics of single dose levonorgestrel. Association found in the cohort treated with dolutegravir.","sentence":"Genotypes CT + TT (assigned as intermediate metabolizer and poor metabolizer phenotype) is not associated with clearance of levonorgestrel in women with HIV Infections as compared to genotype CC (assigned as normal metabolizer phenotype) .","alleles":"CT + TT","specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC8184575","article_title":"Effect of race and glucuronidation rates on the relationship between nicotine metabolite ratio and nicotine clearance","article_path":"articles/PMC8184575.md","variant_annotation_id":1451700040,"variant_haplotypes":"rs2331559","gene":null,"drugs":"nicotine","pmid":33675323,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No effect of the UGT2B10 variant genotypes on the ability of plasma nicotine metabolite ratio to predict nicotine clearance.","sentence":"Allele C is not associated with clearance of nicotine as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3944214","article_title":"Characterization of Statin Dose-response within Electronic Medical Records","article_path":"articles/PMC3944214.md","variant_annotation_id":1183685341,"variant_haplotypes":"rs11807862","gene":"PRDM16","drugs":"atorvastatin, hmg coa reductase inhibitors, simvastatin","pmid":24096969,"phenotype_category":"Efficacy","significance":"no","notes":"There could be strand confusion with this A/T SNP. The result is reported as max effect with simvastatin = 51.7 +/- 33.87 mg/dl in subjects homozygous for the minor allele vs. 74.96 +/- 29.71 mg/dl in those homozygous for the major allele, and 71.66 +/- 32.43 mg/dl for heterozygotes. The gene is on the positive chromosomal strand and dbSNP lists T>A. This SNP was also found to be associated with simvastatin max effect, also not significantly so after correction for multiple testing.","sentence":"Genotype AA is associated with decreased response to atorvastatin, hmg coa reductase inhibitors or simvastatin as compared to genotype TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10838100","article_title":"Association of HTR1A Gene Polymorphisms with Efficacy and Plasma Concentrations of Atypical Antipsychotics in the Treatment of Male Patients with Schizophrenia","article_path":"articles/PMC10838100.md","variant_annotation_id":1452378403,"variant_haplotypes":"rs6295","gene":"HTR1A","drugs":"quetiapine","pmid":38312123,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"At 6 weeks, \"the rs6295 locus GG genotype had significantly higher plasma concentrations than the CG genotype (t = 2.877, P = 0.008). However, there were no statistically significant differences between the genotypes at weeks 3 and 12 of treatment.\"","sentence":"Genotype GG is associated with increased concentrations of quetiapine in men with Schizophrenia as compared to genotype CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG","comparison_metabolizer_types":null} -{"pmcid":"PMC10848431","article_title":"Effects of CYP3A4*22 and POR*28 variations on the pharmacokinetics of tacrolimus in renal transplant recipients: a meta-analysis of 18 observational studies","article_path":"articles/PMC10848431.md","variant_annotation_id":1452376400,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":38321419,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"A significantly higher C0/Dose was observed in POR*1/*1 carriers compared to POR*28 carriers for recipients at 7 days post-transplantation (SMD\u2009=\u20090.34, 95% CI: 0.02 to 0.65, I2\u2009=\u200984.0%). However, no significant difference was observed for the other time courses of post-transplantation (Fig. 3A). In the subgroup analysis stratified by CYP3A5 genotype, for CYP3A5 expressers (CYP3A5*1 carriers), C0/Dose of POR*1/*1 carriers was 22.64 (WMD\u2009=\u200922.64, 95% CI: 2.54 to 42.74, I2\u2009=\u200947.2%) or 19.41 (ng/ml)/(mg/kg/day) (WMD\u2009=\u200919.41, 95% CI: 9.58 to 29.24, I2\u2009=\u200973.5%) higher compared to POR*28 carriers for recipients at 3 days or 7 days post-transplantation (Fig. 3B). However, for CYP3A5 non-expressers (CYP3A5*3/*3 carriers), no significant difference was observed between POR*1/*1 and POR*28 carriers at any time course of post-transplantations (Fig. 3C). \"","sentence":"Genotype CC is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3131846","article_title":"Interactive Modeling for Ongoing Utility of Pharmacogenetic Diagnostic Testing: Application for Warfarin Therapy","article_path":"articles/PMC3131846.md","variant_annotation_id":1183701305,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19679631,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"CC individuals required a daily maintenance dose of S-warfarin of 5.2 mg/day; TC individuals required 4.1 mg/day, and TT individuals required 2.4 mg/day.","sentence":"Allele C is associated with increased dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4814312","article_title":"Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study","article_path":"articles/PMC4814312.md","variant_annotation_id":1447813652,"variant_haplotypes":"rs74795342","gene":null,"drugs":"lithium","pmid":26806518,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients had been taking lithium for at least 6 mo. Response to lithium was assayed using the Alda scale, which quantifies symptom improvement over time. The scale is from 0-10, with 10 being the highest response score and 0 being the lowest. The authors evaluated response using a dichotomous (=7 is \"responder\" and < 7 is \"non-responder\") and a continuous phenotype (0-10). This SNP was found to be associated with improved response to lithium using the continuous phenotype but not the dichotomous phenotype measure. The same alleles had a lower rate of relapse of symptoms in an independent prospective study of 73 patients. The AG genotype was also associated with a greater risk of relapse as compared to the GG genotype. This is one of four SNPs in LD that show association (rs79663003, rs78015114, rs74795342, rs75222709).","sentence":"Allele G is associated with increased response to lithium in people with Bipolar Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603543,"variant_haplotypes":"rs1946518","gene":"IL18","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose-adjusted trough concentrations of tacrolimus were GG>GT>TT at weeks 1 (p=0.007), 2 (p=0.018) and 3 (p=0.019) post-transplant. No significant results were seen at week 4 (p=0.079). This variant was also analyzed in combination with rs5744247 - patients with <=1 allele (Group 1), patients with 2 alleles (Group 2) and patients with >= 3 alleles (Group 3) were compared. Group 3 had lower dose-adjusted trough concentrations as compared to Groups 1 + 2 (p<0.05); no significant difference was seen between Groups 1 and 2. Additionally, note that this polymorphism had a significant impact among CYP3A5 expressers (rs776746 CT+TT) but NOT among nonexpressers (CC). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes GG + GT is associated with increased dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11552228","article_title":"CYP3A4*1B and CYP3A5*3 SNPs significantly impact the response of Egyptian candidates to high-intensity statin therapy to atorvastatin","article_path":"articles/PMC11552228.md","variant_annotation_id":1452706320,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"atorvastatin","pmid":39523378,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by decreased triglycerides. \"The serum TG concentration was greater in the C/C genotype carriers (50.53\u2009\u00b1\u200943.61) than in the C/T genotype carriers (38.01\u2009\u00b1\u200916.64) (P value\u2009<\u20090.05) (Table 5).\" CC genotype had higher triglycerides at start of study compared to CT and still higher levels post-treatment but had greater reductions, although percentage change was not significant.","sentence":"Genotype CC is associated with increased response to atorvastatin in people with Cardiovascular Disease or Hyperlipidemias as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease, Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919592,"variant_haplotypes":"rs2256871","gene":"CYP2C9","drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"for S-warfarin stereoisomer in particular, measured as increased S-warfarin/R-warfarin ratio and using a Bonferroni-adjusted replication significance threshold p < 3.21 \u00d7 10\u22124. (CYP2C9*9)","sentence":"Allele G is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954029,"variant_haplotypes":"rs2278749","gene":"BMAL1","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC442471","article_title":"Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity","article_path":"articles/PMC442471.md","variant_annotation_id":1448258995,"variant_haplotypes":"DPYD deficiency","gene":"DPYD","drugs":"fluorouracil","pmid":3335642,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report. This patient was later genotyped in PMID 11895907. A 40-year-old white woman was diagnosed with breast cancer. She was treated with fluorouracil and developed neurotoxicity and neutropenia. She was found to have markedly prolonged elimination half-life of fluorouracil (159 min), decreased clearance (70 ml/min/m2) and no evidence of fluorouracil catabolites were seen in plasma or cerebrospinal fluid. She was found to have complete deficiency of DPYD enzyme activity in peripheral blood mononuclear cells. Her father and children had partial deficiency.","sentence":"DPYD deficiency is associated with decreased metabolism of fluorouracil in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3890033","article_title":"Association of single nucleotide polymorphisms in MTHFR and ABCG2 with the different efficacy of first-line chemotherapy in metastatic colorectal cancer","article_path":"articles/PMC3890033.md","variant_annotation_id":1184747551,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"antineoplastic agents","pmid":24338217,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in response rate or progression-free survival time was seen between the genotypes. Patients were either receiving FOLFOX/XELOX or FOLFIRI regimens (respectively: fluorouracil, leucovorin, oxaliplatin; capecitabine, oxaliplatin; fluorouracil, leucovorin, irinotecan). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with response to antineoplastic agents in people with Colorectal Neoplasms as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC11023817","article_title":"Pharmacogenetic Influence on Stereoselective Steady-State Disposition of Bupropion","article_path":"articles/PMC11023817.md","variant_annotation_id":1452415420,"variant_haplotypes":"CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":38467432,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Hydroxylation was 25-50% lower in CYP2B6*6 carriers and one-third to one-half less in 516T; carriers.\" \"CYP2B6*6 carriers had lower; bupropion hydroxylation compared with CYP2B6*1 participants, and CYP2B6*6 homozygotes; had lower S-bupropion apparent oral clearance (Table 1). CYP2B6 genotype had no influence; on bupropion renal clearance (Table 2)\"","sentence":"CYP2B6 *6 is associated with increased exposure to bupropion in people with Depressive Disorder, Major.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794195,"variant_haplotypes":"rs7867504","gene":"SLC28A3","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5404990","article_title":"A cis-eQTL in OPRM1 is Associated with Subjective Response to Alcohol and Alcohol Use","article_path":"articles/PMC5404990.md","variant_annotation_id":1450824235,"variant_haplotypes":"rs3778150","gene":"OPRM1","drugs":"ethanol","pmid":28273335,"phenotype_category":null,"significance":"yes","notes":"Individuals carrying the C allele showed decreased reported sensitivity to alcohol overall, during the last three-month period of drinking and at the period of heaviest drinking in their lives compared to individuals with the TT genotype. C allele carriers also showed lower reported sensitivity to the sedating effects of alcohol and experimental alcohol stimulation compared to TT subjects. However, there was no significant association between this variant and reported alcohol sensitivity during the participants' first five drinking episodes, reported sensitivity to the stimulating effects of alcohol, experimental alcohol-related sedation or subjective intoxication.","sentence":"Genotypes CC + CT are associated with decreased response to ethanol as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3225067","article_title":"Pharmacogenetic Predictors of Methylphenidate Dose-Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC3225067.md","variant_annotation_id":1450376686,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":22024001,"phenotype_category":"Efficacy","significance":"no","notes":"Vanderbilt ADHD Parent Rating Scales and Vanderbilt ADHD Teacher Rating Scales - hyperactive-impulsive domain score was derived by totaling scores from the nine hyperactive-impulsive symptoms.","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359361,"variant_haplotypes":"rs10770140","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2858245","article_title":"Integration of genetic, clinical, and INR data to refine warfarin dosing","article_path":"articles/PMC2858245.md","variant_annotation_id":1183700756,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":20375999,"phenotype_category":"Dosage","significance":"yes","notes":"Each T allele resulted in a 20% (17-23%) decrease in therapeutic dose on Day 4 or 5 of therapy.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4454285","article_title":"Polymorphisms in Dopamine Transporter (SLC6A3) are Associated with Stimulant Effects of d-Amphetamine: An Exploratory Pharmacogenetic Study Using Healthy Volunteers","article_path":"articles/PMC4454285.md","variant_annotation_id":981501538,"variant_haplotypes":"rs460000","gene":"SLC6A3","drugs":"amphetamine","pmid":20091113,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"This association was not significant after correction for multiple testing. Association was with changes on the stimulation scale and on the euphoria scale.","sentence":"Genotype GG is associated with increased response to amphetamine in healthy individuals as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7164646","article_title":"Toward precision prescribing for methadone: Determinants of methadone deposition","article_path":"articles/PMC7164646.md","variant_annotation_id":1451353463,"variant_haplotypes":"CYP2B6*1, CYP2B6*5, CYP2B6*6, CYP2B6*7, CYP2B6*18","gene":"CYP2B6","drugs":"methadone","pmid":32302325,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *1/*6, *1/*18, *6.*6 or *6/*16 genotypes (designated os loss of function genotypes) had significantly decreased metabolism of metabolism compared to patients with the *1/*1, *1/*5 or *1/*7 genotypes (designated as normal function genotypes). See Table 4 for details of genotyping and assignation of CYP2B6 star alleles. Please note that *16 was merged into *18 based on PharmVar.","sentence":"CYP2B6 *1/*6 + *1/*18 + *6/*6 + *6/*18 are associated with decreased metabolism of methadone in people with Opioid-Related Disorders as compared to CYP2B6 *1/*1 + *1/*5 + *1/*7.","alleles":"*1/*6 + *1/*18 + *6/*6 + *6/*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*5 + *1/*7","comparison_metabolizer_types":null} -{"pmcid":"PMC3508798","article_title":"Possible effect of norepinephrine transporter polymorphisms on methylphenidate-induced changes in neuropsychological function in attention-deficit hyperactivity disorder","article_path":"articles/PMC3508798.md","variant_annotation_id":1450376406,"variant_haplotypes":"rs28386840","gene":"SLC6A2","drugs":"methylphenidate","pmid":22591463,"phenotype_category":"Efficacy","significance":"not stated","notes":"After 8 weeks of treatment, subjects with the A/A genotype at the A-3081T polymorphism showed less improvement in the mean commission error scores (p = 0.003) than those with the A/T or T/T genotypes. Subjects with the T/T genotype showed the greatest decrease in commission errors, followed by the A/T genotype and A/A genotype (p = 0.007). Test of variables of attention (TOVA) described as continuous performance test (CPT).","sentence":"Genotypes AT + TT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype AA.","alleles":"AT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3833422","article_title":"Effect of Genetic Variant (rs11887534) in ABCG8 Gene in Coronary Artery Disease and Response to Atorvastatin Therapy","article_path":"articles/PMC3833422.md","variant_annotation_id":981501315,"variant_haplotypes":"rs11887534","gene":"ABCG8","drugs":"atorvastatin","pmid":20592455,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles were reported as \"D = wildtype\" and \"H = variant\". This gene is on the + strand, and dbSNP reports G to be the extremely major allele in every population, so I interpreted D to be G and H to be C. There were no HH (CC) homozygotes. The response measured was lowering of LDL-C.","sentence":"Genotype CG is not associated with increased response to atorvastatin in people with Coronary Artery Disease as compared to genotype GG.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2820245","article_title":"GRK5 Gln41Leu polymorphism is not associated with sensitivity to \u03b21-adrenergic blockade in humans","article_path":"articles/PMC2820245.md","variant_annotation_id":1183615604,"variant_haplotypes":"rs2230345","gene":"GRK5","drugs":"atenolol","pmid":19842931,"phenotype_category":"Efficacy","significance":"no","notes":"Subjects performed exercise on a supine bicycle ergometer. No differences between genotypes were seen for change in heart rate at rest, heart rate at maximal exercise, or heart rate area under the curve (AUC) after atenolol administration.","sentence":"Genotype AA is not associated with response to atenolol in healthy individuals as compared to genotypes AT + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449165982,"variant_haplotypes":"rs17685420","gene":"PEBP4","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; Variant achieved significance in the meta-analysis after Bonferroni correction had been applied, but was only nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811619,"variant_haplotypes":"rs1922242","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11317398","article_title":"Genetic variability in the glucocorticoid pathway and treatment outcomes in hospitalized patients with COVID-19: a pilot study","article_path":"articles/PMC11317398.md","variant_annotation_id":1452563203,"variant_haplotypes":"rs33389","gene":"NR3C1","drugs":"dexamethasone","pmid":39135792,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Homozygotes for polymorphic NR3C1 rs33389 allele also needed longer (12 days) hospitalization when compared to carriers of one or two reference alleles (both 9 days) (p adj = 0.025).\"","sentence":"Genotype TT is associated with increased time to response to dexamethasone in people with COVID-19 as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:COVID-19","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3506814","article_title":"Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population","article_path":"articles/PMC3506814.md","variant_annotation_id":1183699689,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"bevacizumab","pmid":23204795,"phenotype_category":"Dosage","significance":"no","notes":"No significant differences in the average number of additional bevacizumab injections (after the initial three intravitreal injections), were seen between any of the genotypes.","sentence":"Genotypes GT + TT are not associated with dose of bevacizumab in people with Macular Degeneration as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10782740","article_title":"Risperidone plasma level, and its correlation with CYP2D6 gene polymorphism, clinical response and side effects in chronic schizophrenia patients","article_path":"articles/PMC10782740.md","variant_annotation_id":1452352400,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10, CYP2D6*41, CYP2D6*65","gene":"CYP2D6","drugs":"risperidone","pmid":38200532,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Plasma levels of RIP and dose corrected RIP concentration in IM group were significantly higher than those in NM group (both p-value were <\u20090.001). Similarly, IMs had a significantly higher RIP/9-OH-RIP ratio and C/D ratio than those value in NMs (p\u2009=\u20090.009 and 0.003, respectively). However, we didn\u2019t observe this kind of difference in blood levels of 9-OH-RIP and dose-corrected 9-OH-RIP, and active moiety (all p\u2009>\u20090.05). All those data were listed in Table \u200bTable4.\" \"IMs, activity score\u2009=\u20090.5 or 0.75), normal metabolizers (NMs, activity score\u2009=\u20091.25, 1.5 or 2.0\"","sentence":"CYP2D6 *10/*10 + *10/*65 + *10/*41 (assigned as intermediate metabolizer phenotype) is associated with increased concentrations of risperidone in people with Schizophrenia as compared to CYP2D6 *1/*1 + *1/*10 + *1/*2 + *2/*2 + *2/*41 (assigned as normal metabolizer phenotype) .","alleles":"*10/*10 + *10/*65 + *10/*41","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*10 + *1/*2 + *2/*2 + *2/*41","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376644,"variant_haplotypes":"rs11564750","gene":null,"drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6800829","article_title":"Impact of SLCO1B3 Polymorphisms on Clinical Outcomes in Lung Allograft Recipients Receiving Mycophenolic Acid","article_path":"articles/PMC6800829.md","variant_annotation_id":1451101332,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"azathioprine, mycophenolic acid","pmid":30992538,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and survival post-transplantation or development of acute cellular rejection, lymphocytic bronchiolitis or chronic lung allograft dysfunction (CLAD).","sentence":"Allele T is not associated with response to azathioprine or mycophenolic acid in people with lung transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157174,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5877743","article_title":"Prediction of Tacrolimus Exposure by CYP3A5 Genotype and Exposure of Co-Administered Everolimus in Japanese Renal Transplant Recipients","article_path":"articles/PMC5877743.md","variant_annotation_id":1449748012,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29547545,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *3/*3 genotype had increased dose-adjusted area under the blood concentration-time curves (AUC/D) and dose-adjusted trough concentrations (C0/D) of tacrolimus as compared to those with the *1/*1 or *1/*3 genotype. Significant at 1 month (p<0.001 for both) and 1 year (<0.001 for AUC/D and p=0.004 for C0/D) post-transplant. Note that at 1 year post transplant only 31 patients remained for analysis.","sentence":"CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3471928","article_title":"No Association of a Set of Candidate Genes on Haloperidol Side Effects","article_path":"articles/PMC3471928.md","variant_annotation_id":1448993645,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"haloperidol","pmid":23077486,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CT is associated with increased concentrations of haloperidol in people with Psychotic Disorders as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767249,"variant_haplotypes":"rs10085144","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2737687","article_title":"CYP2C9*8 is prevalent among African\u2013Americans: implications for pharmacogenetic dosing","article_path":"articles/PMC2737687.md","variant_annotation_id":1183700910,"variant_haplotypes":"CYP2C9*1, CYP2C9*8","gene":"CYP2C9","drugs":"warfarin","pmid":19663669,"phenotype_category":"Dosage","significance":"yes","notes":"An African-American male previously typed as *1/*1 but whose therapeutic warfarin dose was low (14.4 mg/wk) was sequenced and found to be *8/*8. Out of 600 African American alleles genotyped, the frequency of *8 was 0.047 .","sentence":"CYP2C9 *8/*8 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*8/*8","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10452379","article_title":"Novel Gene Polymorphisms for Stable Warfarin Dose in a Korean Population: Genome-Wide Association Study","article_path":"articles/PMC10452379.md","variant_annotation_id":1452221262,"variant_haplotypes":"rs310279","gene":"NKX2-6","drugs":"warfarin","pmid":37626805,"phenotype_category":"Dosage","significance":"yes","notes":"in univariate analysis of patients on stable dose. \"FIn this GWAS analysis, we identified three novel variants (FRAS1 rs4386623, FAM201A rs1890109, and NKX2-6 rs310279) that were significantly associated with stable warfarin dose requirements in patients who underwent heart valve replacements. \"","sentence":"Genotypes AG + GG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930662,"variant_haplotypes":"rs514743","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6003833","article_title":"Allelic Variant in the Glucagon-Like Peptide 1 Receptor Gene Associated with Greater Effect of Liraglutide and Exenatide on Gastric Emptying: A Pilot Pharmacogenetics Study","article_path":"articles/PMC6003833.md","variant_annotation_id":1452878627,"variant_haplotypes":"rs7903146","gene":"TCF7L2","drugs":"exenatide, liraglutide","pmid":29488276,"phenotype_category":"PD","significance":"no","notes":"\"For the TCF7L2 (rs7903146) genotype (major vs. minor allele), assessment, changes in gastric emptying at 5 weeks (p=0.93) and weight loss at 5 weeks (p=0.72) were not different.\"","sentence":"Genotypes CT + TT is not associated with increased response to exenatide or liraglutide in people with Obesity as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Obesity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700223,"variant_haplotypes":"rs5030743","gene":"RRM2","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"As measured by a poorer overall survival. Note this is a G/C SNP, therefore the risk allele could potentially get mixed up.","sentence":"Genotypes CG + GG is associated with decreased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotype CC.","alleles":"CG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5306247","article_title":"Impact of CYP3A4*1G Allele on Clinical Pharmacokinetics and Pharmacodynamics of Clopidogrel","article_path":"articles/PMC5306247.md","variant_annotation_id":1450823997,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"clopidogrel","pmid":26891871,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in platelet aggregation between genotype groups. The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Genotype C/T is not associated with response to clopidogrel in people with Coronary Artery Disease as compared to genotype C/C.","alleles":"C/T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C/C","comparison_metabolizer_types":null} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874540,"variant_haplotypes":"rs28371726","gene":"CYP2D6","drugs":"clozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In the model adjusted for clinical predictors of clozapine concentration, including smoking status and cumulative dose of clozapine, five SNPs (rs28371726 and rs202102799 in CYP2D6; rs4148323 and rs34946978 in UGT1A1; and rs2011404 in UGT1A4) showed significant associations with clozapine concentration. The rs number for each SNP associated with clozapine concentration is shown in Table 3.\" Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and decreased concentration (beta value in table is negative).","sentence":"Allele G is associated with decreased concentrations of clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4130425","article_title":"Therapeutic drug monitoring of voriconazole: a case report of multiple drug interactions in a patient with an increased CYP2C19 activity","article_path":"articles/PMC4130425.md","variant_annotation_id":1444828163,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":25120580,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report: Patient receiving voriconazole had subtherapeutic levels. After administration of esomeprazole (CYP2C19 inhibitor) level within therapeutic range.","sentence":"CYP2C19 *1/*17 is associated with decreased concentrations of voriconazole.","alleles":"*1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11148365","article_title":"Meta-analysis of the effects of CYP3A5*3 gene polymorphisms on tacrolimus blood concentration and effectiveness in Chinese patients with membranous nephropathy","article_path":"articles/PMC11148365.md","variant_annotation_id":1452497160,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":38835664,"phenotype_category":"Efficacy","significance":"no","notes":"\"The results showed that at 3 months [OR = 0.98, 95% CI (0.55, 1.76), p = 0.949], 6 months [OR = 1.14, 95% CI (0.84, 1.56), p = 0.401], and 12 months [OR = 1.20, 95% CI (0.66, 2.21), p = 0.551], the remission rates of expressers were higher than those of non-expressers, but there was no statistically significant difference between the two groups (p > 0.05) (Figure 4).\" \"AA + AG genotype (referred to as expressers) and the GG genotype (referred to as non-expressers)\"","sentence":"Genotypes CT + TT is associated with increased clinical benefit to tacrolimus in people with Glomerulonephritis, Membranous as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Glomerulonephritis, Membranous","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5411458","article_title":"CYP2D6 Phenotyping Using Urine, Plasma, and Saliva Metabolic Ratios to Assess the Impact of CYP2D6\u221710 on Interindividual Variation in a Chinese Population","article_path":"articles/PMC5411458.md","variant_annotation_id":1448617702,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"dextromethorphan","pmid":28512430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. *1/*1 n= 22; *1/*10 n=93. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001).","sentence":"CYP2D6 *1/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*1/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5018246","article_title":"Clinical Evaluation of Cisplatin Sensitivity Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer","article_path":"articles/PMC5018246.md","variant_annotation_id":1448112528,"variant_haplotypes":"rs7937567","gene":"GALNT18","drugs":"cisplatin","pmid":27150640,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was significantly associated with complete pathologic response in the discovery cohort, but not the replication cohort.","sentence":"Genotype GG is associated with increased response to cisplatin in people with Urinary Bladder Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Urinary Bladder Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705077,"variant_haplotypes":"rs8103142","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703531,"variant_haplotypes":"rs1050152","gene":"SLC22A4","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had a decreased likelihood of achieving major molecular response (MMR) within 12 months, as compared to those with the CC or CT genotype. MMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; MMR was a ratio <= 0.1%.","sentence":"Genotype TT is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3279522","article_title":"Common Variants in 40 Genes Assessed for Diabetes Incidence and Response to Metformin and Lifestyle Intervention in the Diabetes Prevention Program","article_path":"articles/PMC3279522.md","variant_annotation_id":1451104700,"variant_haplotypes":"rs8065082","gene":"SLC47A1","drugs":"metformin","pmid":20682687,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by metformin ability to prevent diabetes in people at risk for diabetes. \"At this locus, major allele homozygotes did not benefit from metformin with regard to diabetes prevention, whereas minor allele carriers did\".","sentence":"Genotypes CT + TT is associated with increased response to metformin in people with Glucose Intolerance as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Glucose Intolerance","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4105486","article_title":"Dose-Finding and Pharmacokinetic Study to Optimize the Dosing of Irinotecan According to the UGT1A1 Genotype of Patients With Cancer","article_path":"articles/PMC4105486.md","variant_annotation_id":1185235188,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"SN-38","pmid":24958824,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The dose-adjusted area under the concentration-time curve (AUC) of SN-38 is increased in patients with the *1/*28 or *28/*28 genotype as compared to those with the *1/*1 genotype.","sentence":"UGT1A1 *1/*28 + *28/*28 is associated with increased concentrations of SN-38 in people with Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550280,"variant_haplotypes":"rs362814","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele A is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC1952551","article_title":"Safety of codeine during breastfeeding: Fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine","article_path":"articles/PMC1952551.md","variant_annotation_id":1451156680,"variant_haplotypes":"CYP2D6*2, CYP2D6*2xN","gene":"CYP2D6","drugs":"codeine","pmid":17872605,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report of an infant exposed to fatal levels of morphine through breastmilk while the mother was taking codeine/acetaminophen. Genotyping of the mother found her to have a *2/*2xN genotype. Details of the genotyping assay are not given.","sentence":"CYP2D6 *2/*2xN is associated with increased metabolism of codeine in women.","alleles":"*2/*2xN","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794238,"variant_haplotypes":"rs9394992","gene":"SLC29A1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy","significance":"no","notes":"Tumor response to therapy and progression free survival did not significantly differ between genotype groups.","sentence":"Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5411211","article_title":"Associations between P2RY12 gene polymorphisms and risks of clopidogrel resistance and adverse cardiovascular events after PCI in patients with acute coronary syndrome","article_path":"articles/PMC5411211.md","variant_annotation_id":1448613393,"variant_haplotypes":"rs6809699","gene":"P2RY12","drugs":"clopidogrel","pmid":28383427,"phenotype_category":"Efficacy","significance":"yes","notes":"in Chinese patients with acute coronary syndrome undergoing PCI. This variant is also called P2RY12 G52T.","sentence":"Genotypes AA + AC is associated with increased resistance to clopidogrel as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826739,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"no","notes":"Analysis of the total cohort found no significant difference in number of cigarettes smoked per day between genotype groups.","sentence":"Genotypes AA + AG are not associated with exposure to nicotine in people with Bipolar Disorder or Schizophrenia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2858245","article_title":"Integration of genetic, clinical, and INR data to refine warfarin dosing","article_path":"articles/PMC2858245.md","variant_annotation_id":1183700730,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":20375999,"phenotype_category":"Dosage","significance":"yes","notes":"Each CYP2C9*2 allele resulted in a 15% (11-19%) decrease in therapeutic dose on Day 4 or 5 of therapy.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4181635","article_title":"Clinical significance of UGT1A1 gene polymorphisms on irinotecan-based regimens as the treatment in metastatic colorectal cancer","article_path":"articles/PMC4181635.md","variant_annotation_id":1185235308,"variant_haplotypes":"UGT1A1*1, UGT1A1*6","gene":"UGT1A1","drugs":"irinotecan","pmid":25285015,"phenotype_category":"Efficacy","significance":"no","notes":"Response rates were complete and partial response (CR + PR), or complete and partial response and stable disease (CR + PR + SD). No significant differences between any of the genotypes (*1/*1, *1/*6, *6/*6; rs4148323 GG, AG, AA) were seen for either type of response rate.","sentence":"UGT1A1 *6 is not associated with response to irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3016221","article_title":"Genetic variants in the KIF6 region and coronary event reduction from statin therapy","article_path":"articles/PMC3016221.md","variant_annotation_id":981482185,"variant_haplotypes":"rs9462535","gene":"KIF6","drugs":"atorvastatin, pravastatin","pmid":20886236,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype CC is not associated with increased response to atorvastatin or pravastatin.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678341,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no association between dose (mean daily, or mean maintenance) with the genotype.","sentence":"Genotype CC is not associated with dose of carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113832,"variant_haplotypes":"rs548646","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4916778","article_title":"Impact of ATM and SLC22A1 Polymorphisms on Therapeutic Response to Metformin in Iranian Diabetic Patients","article_path":"articles/PMC4916778.md","variant_annotation_id":1448123009,"variant_haplotypes":"rs11212617","gene":"ATM","drugs":"metformin","pmid":27386433,"phenotype_category":"Efficacy","significance":"no","notes":"in Iranian patients. Response to metformin was defined by HbA1c and fasting blood sugar (FBS) values.","sentence":"Allele C is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003454,"variant_haplotypes":"rs10841753","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928217,"variant_haplotypes":"rs1805054","gene":"HTR6","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479873,"variant_haplotypes":"rs17161983","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171104,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of (S)-EDDP as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3381232","article_title":"Genome-wide Association Identifies the T Gene as a Novel Asthma Pharmacogenetic Locus","article_path":"articles/PMC3381232.md","variant_annotation_id":981475790,"variant_haplotypes":"rs2305089","gene":"TBXT","drugs":"flunisolide","pmid":22538805,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to flunisolide was measured by the difference between prebronchodilator FEV1 off the drug and prebronchodilator FEV1 on the drug. FEV1 off flunisolide was measured during a placebo run-in period, and FEV1 on flunisolide was measured after 8 weeks (for the CAMP population) or 6 weeks (for the ACRN population) of therapy with the drug. Please note that the associated alleles were not specified by letter in the paper, but rather identified as mutant or wild-type. dbSNP was used to assess which alleles were mutant and which were wild-type.","sentence":"Genotype TT is associated with increased response to flunisolide in people with Asthma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4601717","article_title":"Association of a Schizophrenia Risk Variant at the DRD2 Locus With Antipsychotic Treatment Response in First-Episode Psychosis","article_path":"articles/PMC4601717.md","variant_annotation_id":1450823635,"variant_haplotypes":"rs2514218","gene":"DRD2","drugs":"aripiprazole, risperidone","pmid":26320194,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had a greater reduction in symptoms over 12 weeks of treatment with either aripiprazole or risperidone.","sentence":"Genotype CC is associated with increased response to aripiprazole or risperidone in people with Psychotic Disorders, schizoaffective disorder or Schizophrenia as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Psychotic Disorder, Other:Schizoaffective disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3376437","article_title":"Influence of SLCO1B3 haplotype-tag SNPs on docetaxel disposition in Chinese nasopharyngeal cancer patients","article_path":"articles/PMC3376437.md","variant_annotation_id":827784616,"variant_haplotypes":"rs11045585","gene":"SLCO1B3","drugs":"docetaxel","pmid":21995462,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"Significance as part of a haplotype with rs4149118, rs7311358 and rs3834935.","sentence":"Allele G is associated with decreased clearance of docetaxel in people with Nasopharyngeal Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729240,"variant_haplotypes":"rs12769205","gene":"CYP2C19","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AG + GG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448496718,"variant_haplotypes":"rs1056827","gene":"CYP1B1","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AA + AC are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710805,"variant_haplotypes":"CYP2D6*1, CYP2D6*41","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, endoxifen, N-desmethyltamoxifen, tamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood and screened for the following: *2 (2850C>T; rs16947), *2A (\u20131584C>G), *3 (2549delA; rs35742686), *4 (1846G>A; rs3892097), *5 (CYP2D6del), *6 (1707delT; rs5030655), *7 (2935A>C; rs5030867), *8 (1758G>T), *9 (2615-2617delAAG; rs5030656), *10 (100C>T; rs1065852), *12 (124G>A; rs5030862), *14 (1758G>A), *17 (1023C>T; rs28371706), *29 (1659G>A; rs61736512), *41 (2988G>A; rs28371725) and *xN (dup). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 *41 is not associated with concentrations of 4-hydroxytamoxifen, endoxifen, N-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1.","alleles":"*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10876746","article_title":"The impact of folate pathway variants on the outcome of methotrexate therapy in rheumatoid arthritis patients","article_path":"articles/PMC10876746.md","variant_annotation_id":1452376560,"variant_haplotypes":"rs45445694","gene":"TYMS","drugs":"methotrexate","pmid":38311638,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Also, a significant difference was found in TYMS 2R/3R (rs34743033) among the dominant model, p\u2009=\u20090.022, OR\u2009=\u20090.165 (0.035\u20130.771), and the heterozygous genetic model, p\u2009=\u20090.013, OR\u2009=\u20090.129 (0.026\u20130.644).\" rs34743033 is equivalent to rs45445694. Authors label 2R as reference.","sentence":"Genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 is associated with increased clinical benefit to methotrexate in people with Arthritis, Rheumatoid as compared to genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2.","alleles":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2","comparison_metabolizer_types":null} -{"pmcid":"PMC2949912","article_title":"New genetic variant that might improve warfarin dose prediction in African Americans","article_path":"articles/PMC2949912.md","variant_annotation_id":1184473273,"variant_haplotypes":"rs1051741","gene":"EPHX1","drugs":"warfarin","pmid":20716240,"phenotype_category":"Dosage","significance":"yes","notes":"in Caucasians. However,this SNP was no longer statistically significantly associated with warfarin dosing after accounting for the number of tag SNPS the authors; evaluated within the EPHX1 gene.","sentence":"Genotype CT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC9322346","article_title":"The Impact of CYP2C9*11 Allelic Variant on the Pharmacokinetics of Phenytoin and (S)\u2010Warfarin","article_path":"articles/PMC9322346.md","variant_annotation_id":1451909688,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":35426132,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Effect was for S-warfarin but not R-warfarin. It was also significant for increased halflife of S-warfarin but not R-warfarin.","sentence":"CYP2C9 *1/*11 + *2/*11 is associated with decreased clearance of warfarin in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*1/*11 + *2/*11","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602085,"variant_haplotypes":"rs61750900","gene":"UGT2B10","drugs":"nicotine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP is not associated with the pharmacokinetic measures of nicotine.","sentence":"Genotype GG is not associated with metabolism of nicotine in people with Tobacco Use Disorder as compared to genotype GT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356727,"variant_haplotypes":"rs16944","gene":"IL1B","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3505921","article_title":"Influence of Methylenetetrahydrofolate Reductase C677T, A1298C, and G80A Polymorphisms on the Survival of Pediatric Patients with Acute Lymphoblastic Leukemia","article_path":"articles/PMC3505921.md","variant_annotation_id":1451506220,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":23198157,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CT genotype had better overall survival than patients with the CC or TT genotypes. Variant referred to in the paper as G80A. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CC + TT are associated with decreased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CT.","alleles":"CC + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC2737687","article_title":"CYP2C9*8 is prevalent among African\u2013Americans: implications for pharmacogenetic dosing","article_path":"articles/PMC2737687.md","variant_annotation_id":1445401065,"variant_haplotypes":"rs72547529","gene":"VKORC1","drugs":"warfarin","pmid":19663669,"phenotype_category":"Dosage","significance":"not stated","notes":"3 warfarin resistant g.1331G>A (p.V66M) carriers were identified (1 in ~100 individuals) suggesting this variant is associated with warfarin resistance.","sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5727167","article_title":"Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population","article_path":"articles/PMC5727167.md","variant_annotation_id":1449157694,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"warfarin","pmid":29234073,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased dose of warfarin as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146140,"variant_haplotypes":"rs8192935","gene":"CES1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Our study showed that patients with GG genotype (138.8 \u00b1 100.1 ng/mL) had higher peak plasma concentration of dabigatran than with AA genotype (100.9 \u00b1 59.6 ng/mL), and AG genotype (98.7 \u00b1 72.3 ng/mL) (Kruskal\u2013Wallis test, p = 0.25).\" \"Our study showed that polymorphism rs8192935 in the CES1 gene was significantly associated with plasma concentrations of dabigatran in Kazakhstani NVAF patients.\" In supplementary table S5 significant p values are given for Multinomial Logistic Regression analysis.","sentence":"Genotypes AA + AG is associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4752391","article_title":"PHARMACOGENOMIC GENOME-WIDE META-ANALYSIS OF BLOOD PRESSURE RESPONSE TO BETA-BLOCKERS IN HYPERTENSIVE AFRICAN AMERICANS","article_path":"articles/PMC4752391.md","variant_annotation_id":1447676752,"variant_haplotypes":"rs201279313","gene":"SLC25A31","drugs":"atenolol, hydrochlorothiazide, metoprolol","pmid":26729753,"phenotype_category":"Efficacy","significance":"yes","notes":"Study in African Americans","sentence":"Genotype TTA/del is associated with increased response to atenolol, hydrochlorothiazide or metoprolol in people with Hypertension as compared to genotype TTA/TTA.","alleles":"TTA/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TTA/TTA","comparison_metabolizer_types":null} -{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433764,"variant_haplotypes":"rs1203844","gene":"CYP3A4, TMEM130","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele C is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10957942","article_title":"Association of HLA-DRB1 locus with treatment response to abatacept or TNF inhibitors in patients with seropositive rheumatoid arthritis","article_path":"articles/PMC10957942.md","variant_annotation_id":1452428800,"variant_haplotypes":"HLA-DRB1*04:01, HLA-DRB1*04:04, HLA-DRB1*04:05, HLA-DRB1*04:10, HLA-DRB1*10:01","gene":"HLA-DRB1","drugs":"abatacept","pmid":38514707,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Intriguingly, patients with Val11 of HLA-DRB1 SE exhibited a more favorable response to abatacept (OR\u2009=\u20096.46 [1.65\u201343.17], P\u2009=\u20095.4\u2009\u00d7\u200910\u20133)\" \"SE with Val11 (*04:01, *04:04, *04:05, *04:08, *04:10, *10:01)\"","sentence":"HLA-DRB1 *04:01 + *04:04 + *04:05 + *04:10 + *10:01 is associated with increased clinical benefit to abatacept in people with Arthritis, Rheumatoid.","alleles":"*04:01 + *04:04 + *04:05 + *04:10 + *10:01","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451809180,"variant_haplotypes":"rs34130495","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs34059508 and rs72552763. There was a non-significant trend for patients carrying reduced function alleles to have increased exposure to morphine, but the change in exposure is not large enough to be of clinical importance.","sentence":"Allele A is not associated with exposure to morphine in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10532907","article_title":"Pharmacogenetic Variants Associated with Fluoxetine Pharmacokinetics from a Bioequivalence Study in Healthy Subjects","article_path":"articles/PMC10532907.md","variant_annotation_id":1452260765,"variant_haplotypes":"rs1135840","gene":"CYP2D6","drugs":"fluoxetine","pmid":37763120,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The CYP2D6*10 haplotype, related to decreased CYP2D6 function (poor drug metabolism), was found in only one volunteer (subject 25), based on CYP2D6 rs1065852 (haplotype A/A) and rs11358490 (haplotype C/C). As shown in Table 2, t1/2 was three times higher (106.9 h) for this subject than the overall mean (31.02 h). AUCs and t1/2 were statistically different between genotypes of CYP2D6 rs1065852 (p < 0.001). Stratification of subjects based on CYP2D6 genotypes confirmed the difference in the PK profiles, based on the three SNVs found in this study (rs1065852, rs1135840, and rs28371703)\"","sentence":"Allele C is associated with increased concentrations of fluoxetine in healthy individuals as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002490,"variant_haplotypes":"rs746460","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane. Did not reach statistical significance for GWAS (P<5 x 10^-8).","sentence":"Allele T is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2042718","article_title":"A novel mutant variant of the CYP2D6 gene (CYP2D6 17) common in a black African population: association with diminished debrisoquine hydroxylase activity","article_path":"articles/PMC2042718.md","variant_annotation_id":1447990796,"variant_haplotypes":"CYP2D6*17","gene":"CYP2D6","drugs":"debrisoquine","pmid":8971426,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"A subject with an debrisoquine MR of 10.5 with is higher than for most EMs and close to the cut off for PM. Sequencing showed that the subject is homozygous for the *17 allele.","sentence":"CYP2D6 *17/*17 is associated with decreased metabolism of debrisoquine.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10565537","article_title":"Effects of CYP3A4 and CYP2C9 genotype on systemic anastrozole and fulvestrant concentrations in SWOG S0226","article_path":"articles/PMC10565537.md","variant_annotation_id":1452234360,"variant_haplotypes":"CYP2C9 poor metabolizer","gene":"CYP2C9","drugs":"fulvestrant","pmid":37615099,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles measured included CYP2C9*2, CYP2C9*3 (or*18), CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*9, CYP2C9*10, CYP2C9*11, CYP2C9*12, CYP2C9*13, CYP2C9*15, CYP2C9*25 and CYP2C9*27. Alleles and phenotypes were modeled after CPIC. \"participants with low CYP2C9 activity had lower anastrozole concentrations and higher fulvestrant concentrations than participants with high CYP2C9 activity\"","sentence":"CYP2C9 intermediate metabolizer and poor metabolizer is associated with increased concentrations of fulvestrant in people with Breast Neoplasms and Neoplasm Metastasis as compared to CYP2C9 normal metabolizer and ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Breast Neoplasms, Other:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} -{"pmcid":"PMC4631185","article_title":"Effect of carboxylesterase 1 c.428G\u2009>\u2009A single nucleotide variation on the pharmacokinetics of quinapril and enalapril","article_path":"articles/PMC4631185.md","variant_annotation_id":1446899452,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"quinapril","pmid":25919042,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a fixed-order crossover study with two phases: following overnight fasting participants took a 10 mg dose of quinapril and, after a washout period of at least 1 week, a 10 mg dose of enalapril with 150 ml water in the morning and EDTA-prepared blood samples were drawn before and up to 24 hr, and up to 48 h after ingestion for the determination of the concentrations of quinapril and its metabolite quinaprilat, as well as enalapril and its metabolite enalaprilat. Urine was collected up to 12 h after quinapril and enalapril. Only AUC (0-infinity) and amount excreted in urine of enalaprilat were significantly different between genotype groups. Other PK parameters that were tested and not significantly different were Cmax, Tmax, T(1/2), and renal clearance.","sentence":"Genotype CT is not associated with metabolism of quinapril in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5744175","article_title":"Pharmacokinetics and Pharmacodynamics of Meloxicam in East Asian Populations: The Role of Ethnicity on Drug Response","article_path":"articles/PMC5744175.md","variant_annotation_id":1451092660,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"meloxicam","pmid":29024493,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The population PK model predicted CL for meloxicam was decreased by 15%, 29%, 40%, 55%, and 80% in subjects with CYP2C9*1/*2, *2/*2, *1/*3, *2/*3, and *3/*3 genotypes, respectively, compared with that in subjects with the CYP2C9*1/*1 genotype. The effect of *2 on metabolism is moderate compared to *3.","sentence":"CYP2C9 *3 + *2 are associated with decreased metabolism of meloxicam in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*3 + *2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3164274","article_title":"UGT1A6 and UGT2B15 Polymorphisms and Acetaminophen Conjugation in Response to a Randomized, Controlled Diet of Select Fruits and Vegetables","article_path":"articles/PMC3164274.md","variant_annotation_id":1185000439,"variant_haplotypes":"UGT1A6*1a, UGT1A6*2a","gene":"UGT1A6","drugs":"acetaminophen","pmid":21666065,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Acetaminophen gluc/acetaminophen ratio was lower in *1/*1 subjects than *1/*2 and *2/*2 subjects. Please note UGT1A6*2 was determine using rs2070959 and rs1105879 and no subtype was classified in the study.","sentence":"UGT1A6 *2a/*2a + *1a/*2a is associated with increased metabolism of acetaminophen in healthy individuals as compared to UGT1A6 *1a.","alleles":"*2a/*2a + *1a/*2a","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1a","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767335,"variant_haplotypes":"rs10495197","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372715,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"escitalopram","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"The GG and GT genotypes were associated with treatment remission.","sentence":"Genotype TT is associated with decreased response to escitalopram in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4220464","article_title":"Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins","article_path":"articles/PMC4220464.md","variant_annotation_id":1184997439,"variant_haplotypes":"rs2900478","gene":"SLCO1B1","drugs":"hmg coa reductase inhibitors","pmid":25350695,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of this variant respond to statins with a 1.6% smaller LDL-C lowering effect per minor allele compared with non-carriers.","sentence":"Allele A is associated with decreased response to hmg coa reductase inhibitors as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470301,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tacrolimus","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"no","notes":"A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele A is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163277,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104826,"variant_haplotypes":"rs11172113","gene":"LRP1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511080,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of CC, CT and TT did not influence donepezil clearance in a covariate model.","sentence":"Genotype TT is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928783,"variant_haplotypes":"rs2036527","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of genotype on likelihood of male subjects being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation.","sentence":"Allele A is not associated with response to bupropion, nicotine or varenicline in men with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2666924","article_title":"An Evaluation of \u03bc-Opioid Receptor (OPRM1) as a Predictor of Naltrexone Response in the Treatment of Alcohol Dependence: Results From the Combined Pharmacotherapies and Behavioral Interventions for Alcohol Dependence (COMBINE) Study","article_path":"articles/PMC2666924.md","variant_annotation_id":769171526,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":18250251,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased response to naltrexone in people with Alcoholism as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3378722","article_title":"Prediction of Warfarin Dose Reductions in Puerto Rican Patients, Based on Combinatorial CYP2C9 and VKORC1 Genotypes","article_path":"articles/PMC3378722.md","variant_annotation_id":1184510103,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":22274142,"phenotype_category":"Dosage","significance":"yes","notes":"This variant is analyzed along with CYP2C9 variants *2, *3, *5.","sentence":"Genotypes CT + TT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767345,"variant_haplotypes":"rs7414551","gene":"PLEKHN1","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450931989,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the GG genotype had significantly increased sufentanil consumption compared to patients with the AA or AG genotypes, while those with the AG genotype had significantly increased compared to patients with the AA genotype.","sentence":"Genotypes AG + GG are associated with increased dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6562943","article_title":"Patients carrying CYP2C8*3 have shorter systemic paclitaxel exposure","article_path":"articles/PMC6562943.md","variant_annotation_id":1450186374,"variant_haplotypes":"SLCO1B1*5, SLCO1B1*15","gene":"SLCO1B1","drugs":"paclitaxel","pmid":30520341,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by time above threshold concentration. PM/IM (one or two copies of *5 or *15) = 12.12 h, NM (*1/*1) = 10.15 h,","sentence":"SLCO1B1 *5 + *15 is associated with increased exposure to paclitaxel in women with Breast Neoplasms.","alleles":"*5 + *15","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5651327","article_title":"Pretransplant 4\u03b2\u2010hydroxycholesterol does not predict tacrolimus exposure or dose requirements during the first days after kidney transplantation","article_path":"articles/PMC5651327.md","variant_annotation_id":1448635420,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":28603840,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 *22 is not associated with trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359540,"variant_haplotypes":"rs10770140","gene":"TH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3749354","article_title":"The CTRB1/2 Locus Affects Diabetes Susceptibility and Treatment via the Incretin Pathway","article_path":"articles/PMC3749354.md","variant_annotation_id":1452876560,"variant_haplotypes":"rs7202877","gene":"CTRB1, CTRB2","drugs":"Dipeptidyl peptidase 4 (DPP-4) inhibitors","pmid":23674605,"phenotype_category":"Efficacy","significance":"yes","notes":"\"In total, 527 patients were included, from the Dutch DCS West-Friesland and the U.K. GoDARTS studies (Supplementary Table 2). In both cohorts, patients carrying the G allele of rs7202877 near CTRB1/2 showed a significantly smaller decrease in A1C levels after DPP-4 inhibitor treatment compared with TT carriers (n = 354) (Table 2 and Supplementary Tables 5\u20137). Meta-analysis of both cohorts showed that carriers of the G allele had an absolute 0.51 \u00b1 0.16% (5.6 \u00b1 1.7 mmol/mol) smaller decrease in A1C after adjustment for potential confounders (P = 0.0015) (Table 2). \" \" In contrast to those treated with a DPP-4 inhibitor, carriers of the rs7202877 G allele treated with a GLP-1 RA showed a response comparable to carriers of the TT genotype (P = 0.58) \"","sentence":"Genotypes GG + GT is associated with decreased response to Dipeptidyl peptidase 4 (DPP-4) inhibitors in people with Diabetes Mellitus, Type 2 as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5478306","article_title":"Correlation of MDR1 gene polymorphisms with anesthetic effect of sevoflurane\u2013remifentanil following pediatric tonsillectomy","article_path":"articles/PMC5478306.md","variant_annotation_id":1448639468,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"remifentanil, sevoflurane","pmid":28614221,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to remifentanil and sevoflurane in children with tonsillectomy as compared to genotypes AC + CC.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Other:tonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3656883","article_title":"Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements","article_path":"articles/PMC3656883.md","variant_annotation_id":1185002324,"variant_haplotypes":"rs7200749","gene":"VKORC1","drugs":"acenocoumarol","pmid":23691226,"phenotype_category":"Dosage","significance":"yes","notes":"16 vs 14 mg/week.","sentence":"Genotypes AA + AG is associated with increased dose of acenocoumarol as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1451165260,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"UGT1A1 *28 is not associated with increased metabolism of selumetinib in healthy individuals as compared to UGT1A1 *1.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2812115","article_title":"CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose","article_path":"articles/PMC2812115.md","variant_annotation_id":769250167,"variant_haplotypes":"rs12782374","gene":"CYP2C9","drugs":"phenytoin","pmid":19855097,"phenotype_category":"Other, Metabolism/PK","significance":"not stated","notes":"in human liver samples from individuals who did not have CYP2C9*2(rs1799853 T) or *3 (rs1057910 C). Measured by ratio of formation of (S)- and (R)-p-HPPH in vitro.","sentence":"Genotype AG is associated with increased metabolism of phenytoin as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11435314","article_title":"An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers","article_path":"articles/PMC11435314.md","variant_annotation_id":1452617167,"variant_haplotypes":"rs10929302","gene":"UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9","drugs":"fesoterodine","pmid":39338398,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The UGT1A rs10929302 A/A genotype was associated with a lower AUC/DW compared to the G/A and G/G genotypes (puv = 0.05 and puv = 0.024, respectively; \u03b2 = \u22120.441, R2 =0.410, pmv = 0.029) and a higher Cl/F compared to the G/A genotype (puv = 0.027; \u03b2 = 0.436, R2 =0.409, pmv = 0.031).\"","sentence":"Genotype AA is associated with increased clearance of fesoterodine in healthy individuals as compared to genotype AG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654374,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"not stated","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - n=2 children had the *2/*3 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and *3 as rs1057910.","sentence":"CYP2C9 *2/*3 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*2/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11049954","article_title":"Association of CYP3A4-392A/G, CYP3A5-6986A/G, and ABCB1-3435C/T Polymorphisms with Tacrolimus Dose, Serum Concentration, and Biochemical Parameters in Mexican Patients with Kidney Transplant","article_path":"articles/PMC11049954.md","variant_annotation_id":1452457600,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":38674430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The findings of this study suggest that the CYP3A5-6986A/G GG genotype is associated with a four-fold-increased likelihood of experiencing serum TAC concentration greater than 15 ng/mL after one month of KT. Co-occurrence of the CYP3A5-6986A/G GG genotype and use of TAC-increasing drugs correlates with a nine-fold-increased susceptibility to increased TAC concentration exceeding 15ng/mL one month after KT. Therefore, close monitoring of these patients is essential due to their increased susceptibility to TAC toxicity.\" Alleles complemented.","sentence":"Genotype CC is associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6411694","article_title":"Nicotine oxidation by genetic variants of CYP2B6 and in human brain microsomes","article_path":"articles/PMC6411694.md","variant_annotation_id":1450375324,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"nicotine","pmid":30906561,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"In vitro study which looked at metabolism of nicotine to nicotine iminium and nornicotine.","sentence":"CYP2B6 *6 is associated with decreased metabolism of nicotine as compared to CYP2B6 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310596,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele T is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5505550","article_title":"Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9","article_path":"articles/PMC5505550.md","variant_annotation_id":1448820093,"variant_haplotypes":"rs10509681","gene":"CYP2C8","drugs":"piroxicam","pmid":28740425,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.","sentence":"Allele T is not associated with response to piroxicam as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4797547","article_title":"Influence of G-protein \u03b2-Polypeptide 3 C825T Polymorphism on Antihypertensive Response to Telmisartan and Amlodipine in Chinese Patients","article_path":"articles/PMC4797547.md","variant_annotation_id":1447680321,"variant_haplotypes":"rs5443","gene":"GNB3","drugs":"telmisartan","pmid":26712426,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased response to telmisartan in people with Essential hypertension as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6786370","article_title":"Influences of an NR1I2 polymorphism on heterogeneous antiplatelet reactivity responses to clopidogrel and clinical outcomes in acute ischemic stroke patients","article_path":"articles/PMC6786370.md","variant_annotation_id":1450123149,"variant_haplotypes":"rs12456693","gene":"SLC14A2","drugs":"clopidogrel","pmid":30487649,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is associated with increased H4 concentration.","sentence":"Allele T is associated with increased response to clopidogrel in people with Coronary Artery Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710685,"variant_haplotypes":"CYP2D6*1, CYP2D6*5, CYP2D6*10","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, tamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood and screened for the following: *2 (2850C>T; rs16947), *2A (\u20131584C>G), *3 (2549delA; rs35742686), *4 (1846G>A; rs3892097), *5 (CYP2D6del), *6 (1707delT; rs5030655), *7 (2935A>C; rs5030867), *8 (1758G>T), *9 (2615-2617delAAG; rs5030656), *10 (100C>T; rs1065852), *12 (124G>A; rs5030862), *14 (1758G>A), *17 (1023C>T; rs28371706), *29 (1659G>A; rs61736512), *41 (2988G>A; rs28371725) and *xN (dup). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 *10 + *5 is not associated with concentrations of 4-hydroxytamoxifen or tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1.","alleles":"*10 + *5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767299,"variant_haplotypes":"rs35684750","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6891932","article_title":"Effects of SLCO1B1 polymorphisms on plasma estrogen concentrations in women with breast cancer receiving aromatase inhibitors exemestane and letrozole","article_path":"articles/PMC6891932.md","variant_annotation_id":1450934625,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*5","gene":"SLCO1B1","drugs":"estrone sulfate","pmid":31190621,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"prior to treatment with aromatase inhibitors.","sentence":"SLCO1B1 *5 is associated with increased estrone sulfate in women with Breast Neoplasms as compared to SLCO1B1 *1/*1.","alleles":"*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":null,"multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4872305","article_title":"Significant Effect of Polymorphisms in CYP2D6 and ABCC2 on Clinical Outcomes of Adjuvant Tamoxifen Therapy for Breast Cancer Patients","article_path":"articles/PMC4872305.md","variant_annotation_id":1444709550,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, endoxifen","pmid":20124171,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with breast cancer receiving adjuvant tamoxifen monotherapy. 98 patients were screened for CYP2D6*4 (1846G>A), CYP2D6*6 (1707delT), CYP2D6*10 (100C>T), CYP2D6*14B (1758G>A), CYP2D6*18 (4125_4133dupGTGCCCACT), CYP2D6*21 (2573_2574insC), CYP2D6*36 (gene conversion to CYP2D7 in exon 9), and CYP2D6*41 (2988G>A) and whole-gene deletion (CYP2D6*5) and duplications (CYP2D6*1-*1, CYP2D6*10-*10, CYP2D6*10-36, and CYP2D6*36-*36). Found genotypes are not specifically reported except for *10. The results were reported as wildtype compared to variant allele. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 *10 is associated with decreased concentrations of 4-hydroxytamoxifen and endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1.","alleles":"*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3734199","article_title":"XRCC3 Thr241Met Polymorphism and Clinical Outcomes of NSCLC Patients Receiving Platinum-Based Chemotherapy: A Systematic Review and Meta-Analysis","article_path":"articles/PMC3734199.md","variant_annotation_id":1184511789,"variant_haplotypes":"rs861539","gene":"XRCC3","drugs":"Platinum compounds","pmid":23940523,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele A is associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11094496","article_title":"Contribution of genetic polymorphism in ABCB1 to individual variations of imatinib plasma levels in patients with gastrointestinal stromal tumor","article_path":"articles/PMC11094496.md","variant_annotation_id":1452478100,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"imatinib","pmid":38756645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"For ATP-binding cassette subfamily B member 1 (ABCB1), the IM trough concentration (1,271.09\u00b1306.69 ng/mL) of rs1045642 C carriers (CT + CC) was significantly higher than of patients with the TT genotype (1,106.60\u00b1206.05 ng/mL) (P=0.008) (Figure 1, Table 2).\"","sentence":"Genotypes AG + GG is associated with increased trough concentration of imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Gastrointestinal Stromal Tumors","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3401172","article_title":"An Acenocoumarol Dosing Algorithm Using Clinical and Pharmacogenetic Data in Spanish Patients with Thromboembolic Disease","article_path":"articles/PMC3401172.md","variant_annotation_id":1448259328,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"acenocoumarol","pmid":22911785,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant was significantly associated with acenocoumarol dose, and explained 3.6% of the variability in dose. Clinical variables (Age, BMI, Enzyme inducers status and Amiodarone status) explained 22% of the variability in dose. This study developed an algorithm for acenocoumarol dosing using clinical and pharmacogenetic data.","sentence":"Allele T is associated with dose of acenocoumarol.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729129,"variant_haplotypes":"rs35930845","gene":"CYP2B6","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes CG + GG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675725,"variant_haplotypes":"rs462779","gene":"REV3L","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"yes","notes":"Outcomes measured as event-free survival (p=0.056) and overall survival (p=0.018). Manuscript gives alleles as T and C.","sentence":"Genotypes AG + GG are associated with decreased response to cisplatin in people with Osteosarcoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4433569","article_title":"Novel SNP in CYP2C9 is associated with changes in warfarin clearance and CYP2C9 expression levels in African Americans","article_path":"articles/PMC4433569.md","variant_annotation_id":1444608101,"variant_haplotypes":"rs7089580","gene":"CYP2C9","drugs":"warfarin","pmid":25499099,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AT is associated with increased clearance of warfarin as compared to genotype AA.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612403,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele A is not associated with clearance of talinolol in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436913,"variant_haplotypes":"rs7294","gene":"PRSS53, VKORC1","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451105040,"variant_haplotypes":"rs7640543","gene":null,"drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699030,"variant_haplotypes":"rs11103167","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161371,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*2xN","gene":"CYP2D6","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"yes","notes":"CYP2D6 ultrarapid metabolizers were significantly overrepresented in responders compared to non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for.","sentence":"CYP2D6 *1/*2xN + *2/*2xN are associated with increased response to methadone in people with Opioid-Related Disorders as compared to CYP2D6 *1/*1.","alleles":"*1/*2xN + *2/*2xN","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974227,"variant_haplotypes":"rs3760364","gene":"ITGA2B","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AT is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to genotype TT.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8973308","article_title":"Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia","article_path":"articles/PMC8973308.md","variant_annotation_id":1451769040,"variant_haplotypes":"rs1800460","gene":"TPMT","drugs":"mercaptopurine","pmid":35431360,"phenotype_category":"Dosage","significance":"no","notes":"Authors stated \"Although no statistically significant associations were identified... In the case of rs1800460, of the six heterozygous patients, three required a dosage decrease, and two were also heterozygous for rs1142345.\" No TT homozygotes were observed. \"Studies with a larger population size are needed\"","sentence":"Genotype CT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3805522","article_title":"Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines","article_path":"articles/PMC3805522.md","variant_annotation_id":1184471945,"variant_haplotypes":"rs67376798","gene":"DPYD","drugs":"capecitabine, fluorouracil","pmid":24167597,"phenotype_category":"Dosage","significance":"yes","notes":"Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. \"Dose\" here refers to dose modification. Note: the reported parameters for this SNP are really for what the authors refer to as a \"DPYD signature\" that includes any minor alleles for the following SNPs in DPYD: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T).","sentence":"Genotype AT is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype TT.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4177494","article_title":"IL28B polymorphism genotyping as predictor of rapid virologic response during interferon plus ribavirin treatment in hepatitis C virus genotype 1 patients","article_path":"articles/PMC4177494.md","variant_annotation_id":1445296829,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":25278709,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of this SNP on null-R (not achieving a hepatitis C virus (HCV) RNA drop of >= 1 log at week 4) was seen; logistic regression analysis.","sentence":"Genotype CC is not associated with response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166325,"variant_haplotypes":"rs362272","gene":"HTT","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5282793","article_title":"CYP2B6 Genotype Guided Dosing of Propofol Anesthesia in the Elderly based on Nonparametric Population Pharmacokinetic Modeling and Simulations","article_path":"articles/PMC5282793.md","variant_annotation_id":1448592786,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"propofol","pmid":28154789,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Population pharmacokinetic modeling. Patients with the AA or AG genotype had a significantly decreased elimination rate from the central compartment (Ke) as compared to those with the GG genotype. Patients with the AA or AG genotype also had a decreased clearance of propofol as compared to those with the GG genotype, though no statistical information was provided. Propofol anesthesia.","sentence":"Genotypes AA + AG is associated with decreased clearance of propofol as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693768,"variant_haplotypes":"rs1799724","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype frequencies was seen between those who were responders to treatment and those who were non-responders. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation.","sentence":"Genotype CC is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5478306","article_title":"Correlation of MDR1 gene polymorphisms with anesthetic effect of sevoflurane\u2013remifentanil following pediatric tonsillectomy","article_path":"articles/PMC5478306.md","variant_annotation_id":1448639423,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"remifentanil, sevoflurane","pmid":28614221,"phenotype_category":"Efficacy","significance":"yes","notes":"The GG genotype was associated with a decreased visual analog scale score at 1, 2, 4, and 8 hours post-operative (all P<.05).; The GG genotype was associated with shorter times of induction, respiration recovery, eyeopening,; and extubation (all P<.05).; Ramsay sedation scores were lower in the GG genotype (less sedation), while Face, Legs, Activity, Cry, Consolability scale (FLACC) scores were higher (increased pain) (both P<.05).","sentence":"Genotype GG is associated with increased response to remifentanil and sevoflurane in children with tonsillectomy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Other:tonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC10159199","article_title":"Effect of ERCC1 polymorphisms on the response to platinum-based chemotherapy: A systematic review and meta-analysis based on Asian population","article_path":"articles/PMC10159199.md","variant_annotation_id":1452094860,"variant_haplotypes":"rs2298881","gene":"ERCC1","drugs":"Platinum compounds","pmid":37141338,"phenotype_category":"Efficacy","significance":"no","notes":"Authors perform meta-analysis using several models looking at response and OS and subgroup analysis by cancer type.","sentence":"Genotypes AA + AC is not associated with increased clinical benefit to Platinum compounds in people with Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4387236","article_title":"Genome-wide Association Study of Virologic Response with Efavirenz- or Abacavir-containing Regimens in AIDS Clinical Trials Group Protocols","article_path":"articles/PMC4387236.md","variant_annotation_id":1296598723,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"efavirenz","pmid":25461247,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association with virologic failure is found for the combinations of CYP2B6 polymorphisms (rs3745274, rs28399499, and rs4803419).","sentence":"Allele C is not associated with response to efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5871545","article_title":"Variants in the CYP2B6 3\u2032UTR alter in vitro and in vivo CYP2B6 activity: potential role of microRNAs","article_path":"articles/PMC5871545.md","variant_annotation_id":1448997587,"variant_haplotypes":"rs70950385","gene":"CYP2B6","drugs":"efavirenz","pmid":28960269,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The rs70950385 and rs1042389 variant alleles were associated with a decrease in CYP2B6 activity when comparing Plasma efavirenz AUC0-48 ratios (8-OH-EFV/EFV)) between AG/AG and CA/CA genotypes (32.7%; p<0.05).","sentence":"Genotype CA/CA is associated with decreased metabolism of efavirenz in healthy individuals as compared to genotype AG/AG.","alleles":"CA/CA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG/AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3584248","article_title":"CYP2D6 genotypes, endoxifen levels, and disease recurrence in 224 Filipino and Vietnamese women receiving adjuvant tamoxifen for operable breast cancer","article_path":"articles/PMC3584248.md","variant_annotation_id":1444930388,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"endoxifen","pmid":23476897,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"No information on menopausal status or if tamoxifen only treatment. No co-treatment with CYP2D6 inhibitors CYP2D6 alleles *2, *3, *4, *5, *6, *10, and *41 are genotyped with predeveloped TaqMan Genotyping Assays. Genotypes were categorized as normal (fully functional CYP2D6 alleles: *1 and *2 -*1/*1, *1/*2, *2/*2), intermediate (alleles associated with reduced enzyme activity: heterozygous for *10 and *41-*1/*10, *2/*10, *1/*41), and slow (homozygous for *10, *41 variants and one or more non-functional null alleles: *3-*6-*10/*10, *10/*41, *1/*5, *2/*5, *5/*10). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: leukocytes] [HWE: Vietnamese *1, 2, 4, 5, 10, 41 yes Filipino *1 and *2 no rest yes] An additional nested case-control study (n=48) showed an increased risk of recurrence at low and high (>70 ng/ml) endoxifen concentrations.","sentence":"CYP2D6 *10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*2 + *2/*2.","alleles":"*10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC3384479","article_title":"Vitamin K antagonists in children with heart disease: height and VKORC1 genotype are the main determinants of the warfarin dose requirement","article_path":"articles/PMC3384479.md","variant_annotation_id":982047979,"variant_haplotypes":"CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"fluindione","pmid":22130800,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 *2 + *3 is not associated with dose of fluindione in children as compared to CYP2C9 *1/*1.","alleles":"*2 + *3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501747,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by a greater half-life. This association was only significant in the African American sub-cohort and not in Caucasian patients. The *3 allele occurred at a lower frequency in African Americans compared to Caucasians.","sentence":"CYP3A5 *3/*3 is associated with decreased clearance of carbamazepine in people with Epilepsy as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438520,"variant_haplotypes":"rs10929302","gene":"UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4868001","article_title":"Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy","article_path":"articles/PMC4868001.md","variant_annotation_id":1449565832,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenytoin","pmid":27179628,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were heterozygous for the CYP2C9*3 allele had significantly higher levels of phenytoin than patients who did not carry the *3 allele. No patients with the *3/*3 diplotype were identified.","sentence":"CYP2C9 *1/*3 + *2/*3 are associated with increased concentrations of phenytoin in children with as compared to CYP2C9 *1/*1 + *1/*2.","alleles":"*1/*3 + *2/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376638,"variant_haplotypes":"rs2652511","gene":"SLC6A3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2888980","article_title":"A Candidate Gene Analysis of Methylphenidate Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC2888980.md","variant_annotation_id":1450372933,"variant_haplotypes":"rs1051312","gene":"SNAP25","drugs":"methylphenidate","pmid":19858760,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680859,"variant_haplotypes":"rs3732360","gene":"NR1I2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9601332","article_title":"The Pharmacogenetics of Cannabis in the Treatment of Chronic Pain","article_path":"articles/PMC9601332.md","variant_annotation_id":1451930520,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"cannabinoids","pmid":36292717,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CC homozygous patients and CT heterozygotes for the ABCB1 gene were associated with an average pain reduction of approximately 2 VAS points, compared to the 1.3 VAS points of TT homozygotes.\"","sentence":"Genotypes AG + GG is associated with increased clinical benefit to cannabinoids in people with Pain as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449250920,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8540141","article_title":"Variants in COMT, CYP3A5, CYP2B6, and ABCG2 Alter Quetiapine Pharmacokinetics","article_path":"articles/PMC8540141.md","variant_annotation_id":1452609623,"variant_haplotypes":"CYP3A4*1, CYP3A4*3","gene":"CYP3A4","drugs":"quetiapine","pmid":34683865,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP3A4 *1/*3 subject (n=1) showed a higher quetiapine dose/weight-adjusted AUC and t1/2 compared to the mean of the CYP3A4*1/*1 subjects.","sentence":"CYP3A4 *1/*3 is associated with increased concentrations of quetiapine in healthy individuals as compared to CYP3A4 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC8100460","article_title":"CYP3A5 and UGT1A9 Polymorphisms Influence Immunosuppressive Therapy in Pediatric Kidney Transplant Recipients","article_path":"articles/PMC8100460.md","variant_annotation_id":1451652240,"variant_haplotypes":"rs6714486","gene":"UGT1A9","drugs":"mycophenolic acid","pmid":33967795,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"patients carrying the UGT1A9-275A variant allele had lower AUC0\u201312h/MPA-D (0.053 [IQR 0.040\u20130.100] ug*hr/ml/mg/m2) than patients carrying only the UGT1A9-275T ancestral allele genotype (0.117 [IQR 0.058\u20130.150]ug*hr/ml/mg/m2) with a difference of marginal significance \"","sentence":"Genotypes AA + AT is associated with decreased dose-adjusted trough concentrations of mycophenolic acid in children with Kidney Transplantation as compared to genotype TT.","alleles":"AA + AT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4943245","article_title":"Individualized Angiotensin\u2010Converting Enzyme (ACE)\u2010Inhibitor Therapy in Stable Coronary Artery Disease Based on Clinical and Pharmacogenetic Determinants: The PERindopril GENEtic (PERGENE) Risk Model","article_path":"articles/PMC4943245.md","variant_annotation_id":1447964466,"variant_haplotypes":"rs5182","gene":"AGTR1","drugs":"perindopril","pmid":27021566,"phenotype_category":"Efficacy","significance":"yes","notes":"Three SNPS are combined for a risk score ranging between 0 and 6: rs275651, rs5182, and rs12050217. Patients with risk scores of 0 and 1 and treated with perindopril had absolute risk reductions of 7.50% (95% CI: 3.69-11.73) and 4.30% (95% CI: 2.00-6.53), respectively. Nonsignificant estimated absolute risk increase of 1.32% was observed in patients with a PGXscore >=3. Lower risk score had better response to treatment by primary endpoint of cardiovascular mortality, nonfatal MI, and resuscitated cardiac arrest. Part of PERGENE trial for cardiovascular outcomes.","sentence":"Genotypes CC + CT is associated with decreased response to perindopril in people with Coronary Artery Disease as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144219,"variant_haplotypes":"rs61123830","gene":"GRAMD1B","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3225067","article_title":"Pharmacogenetic Predictors of Methylphenidate Dose-Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC3225067.md","variant_annotation_id":1450376675,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":22024001,"phenotype_category":"Efficacy","significance":"not stated","notes":"Vanderbilt ADHD Parent Rating Scales and Vanderbilt ADHD Teacher Rating Scales - hyperactive-impulsive domain score was derived by totaling scores from the nine hyperactive-impulsive symptoms. A main effect on hyperactive-impulsive domain scores was detected for the ADRA2A polymorphism ( p = .003), with G homozygotes displaying higher symptom levels on placebo and continuing at these higher levels as MPH doses increased. The ADRA2A-by-dose interaction fell short of the threshold for statistical significance ( p > .025) with a p=0.03.","sentence":"Genotype GG is associated with decreased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes CC + CG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC2709885","article_title":"Genetic variation of CYP2C19 affects both pharmacokinetic and pharmacodynamic responses to clopidogrel but not prasugrel in aspirin-treated patients with coronary artery disease","article_path":"articles/PMC2709885.md","variant_annotation_id":1184469857,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17","gene":"CYP2C19","drugs":"clopidogrel","pmid":19429918,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":"Active metabolite exposure was significantly lower with PM than with EM. Patients were also treated with aspirin. There were 37 EM (by genotype) and 9 PM (by genotype). Dosage was 600 mg loading/75 mg maintenance.","sentence":"CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is associated with decreased metabolism of clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*8 + *2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5883590","article_title":"Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome","article_path":"articles/PMC5883590.md","variant_annotation_id":1449748454,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":29615122,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA, AT or TT genotype had a higher effectiveness of clinical treatment as compared to those with the CT, AC or CC genotypes. Effective response included patients with complete or partial remission, and ineffective response included patients with no remission or recurrence. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AA + TT is associated with increased response to tacrolimus in people with Nephrotic Syndrome as compared to genotypes CC + CT.","alleles":"AA + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nephrotic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359160,"variant_haplotypes":"rs6347","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele C is not associated with response to heroin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5510236","article_title":"The Effects of Inherited NUDT15 Polymorphisms on Thiopurine Active Metabolites in Japanese Children with Acute Lymphoblastic Leukemia","article_path":"articles/PMC5510236.md","variant_annotation_id":1448624596,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3","gene":"NUDT15","drugs":"mercaptopurine","pmid":28445187,"phenotype_category":"Toxicity","significance":"yes","notes":"The mean mercaptopurine (MP) dosages were 48.0 \u00b1 21.2, 34.1 \u00b1 17.0, and 3.2 \u00b1 1.2 mg/m2 for the normal-activity (*1/*1 n=44), intermediate-activity (*1/*2 + *1/*3 + *1/*5 n=10), and low-activity (*2/*3 n=1) NUDT15 groups, respectively (P =4.8\u00d710-4). TGN (thioguanine nucleotides, not further specified) levels was correlated negatively with the number of NUDT15 risk alleles (P=5.3\u00d710-6) and this association remained significant after adjusting for MP dosage (P = 1.7 \u00d7 10 - 6). The ratio of DNA-TG to TGN (i.e. the percent of TGN converted to DNA-TG) was significantly higher in NUDT15-deficient patients (P=3.6\u00d7 10 - 9).","sentence":"NUDT15 *2/*3 are associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1.","alleles":"*2/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6939828","article_title":"Identification of Cytochrome P450 Polymorphisms in Burn Patients and Impact on Fentanyl Pharmacokinetics: A Pilot Study","article_path":"articles/PMC6939828.md","variant_annotation_id":1451099067,"variant_haplotypes":"CYP2D6*1, CYP2D6*9","gene":"CYP2D6","drugs":"fentanyl","pmid":30371861,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single patient identified with the CYP2D6*9 allele. Clearance of fentanyl in this patient was significantly lower than in WT patients.","sentence":"CYP2D6 *9 is associated with decreased clearance of fentanyl in people with Burns as compared to CYP2D6 *1.","alleles":"*9","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Burns","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC1978168","article_title":"The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis","article_path":"articles/PMC1978168.md","variant_annotation_id":982046931,"variant_haplotypes":"CYP2D6*1, CYP2D6*17","gene":"CYP2D6","drugs":"codeine","pmid":17517247,"phenotype_category":"Efficacy","significance":"yes","notes":"Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.","sentence":"CYP2D6 *17 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.","alleles":"*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930479,"variant_haplotypes":"rs3784921","gene":"TXNDC11","drugs":"hydrochlorothiazide","pmid":29650764,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele was associated with a reduced systolic blood pressure response to hydrochlorothiazide.","sentence":"Allele G is associated with decreased response to hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359340,"variant_haplotypes":"rs10064525","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of heroin in people with Heroin Dependence as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983268,"variant_haplotypes":"rs4737771","gene":"CRH","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (C). Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele C is associated with decreased response to antidepressants in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046448,"variant_haplotypes":"rs3212986","gene":"ERCC1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele C is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930689,"variant_haplotypes":"rs950776","gene":"CHRNB4","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele C is not associated with exposure to nicotine in men as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6370172","article_title":"Correlation of CYP2C19 genotype with plasma voriconazole exposure in South-western Chinese Han patients with invasive fungal infections","article_path":"articles/PMC6370172.md","variant_annotation_id":1450372517,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":30653146,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were intermediate metabolizers (*1/*2, *1/*3 or *2/*17) had increased trough concentrations (C0) and dose-adjusted trough concentrations (C0/D) as compared to those who were normal metabolizers (*1/*1). However, when each genotype was assessed separately (*1/*2 vs *1/*1 and *1/*3 vs *1/*1), no significant association was found for C0 or C0/D.","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*17 is associated with decreased metabolism of voriconazole in people with Mycoses as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *1/*3 + *2/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6361127","article_title":"Effects of UGT1A1 Genotype on the Pharmacokinetics, Pharmacodynamics, and Toxicities of Belinostat Administered by 48-Hour Continuous Infusion in Patients With Cancer","article_path":"articles/PMC6361127.md","variant_annotation_id":1447672760,"variant_haplotypes":"UGT1A1*1, UGT1A1*60","gene":"UGT1A1","drugs":"belinostat","pmid":26313268,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Belinostat half-life time was increased in carriers of the *60 allele (*1/*60 n=11, *60/*60 n=5) as compared to those with the *1/*1 genotype. Significant results were also seen when only including patients who received a belinostat dose greater than 400 mg/m2/24h (*1/*60 n=7; *60/*60 n=4). No significant association was seen for AUC, Cmax or clearance. Patients received belinostat in combination with cisplatin and etoposide. p < 0.01 was considered statistically significant.","sentence":"UGT1A1 *1/*60 + *60/*60 is associated with decreased metabolism of Belinostat in people with Neoplasms.","alleles":"*1/*60 + *60/*60","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815073,"variant_haplotypes":"rs711355","gene":"TJP1","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of T alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs785423 and rs813676.","sentence":"Allele T is associated with increased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359144,"variant_haplotypes":"rs1042098","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele G is not associated with response to heroin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC8890732","article_title":"Effects of cytochrome P450 2B6 and constitutive androstane receptor genetic variation on Efavirenz plasma concentrations among HIV patients in Kenya","article_path":"articles/PMC8890732.md","variant_annotation_id":1451706780,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz","pmid":35235559,"phenotype_category":"Metabolism/PK","significance":"no","notes":"this was significant in preliminary analysis but not in the multivariate analysis. Described as 785A>G","sentence":"Allele G is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002191,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"clopidogrel","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele A is not associated with exposure to clopidogrel as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3925114","article_title":"Therapeutic Drug Monitoring and Pharmacogenetic Study of HIV-Infected Ethnic Chinese Receiving Efavirenz-Containing Antiretroviral Therapy with or without Rifampicin-Based Anti-Tuberculous Therapy","article_path":"articles/PMC3925114.md","variant_annotation_id":1184233832,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":24551111,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the GT genotype had higher plasma efavirenz concentrations compared to patients with the GG genotype: 2.50 mg/L [0.98-10.00] for GG genotype vs 3.47 mg/L [1.35-8.73] for GT genotype.","sentence":"Genotype GT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2855513","article_title":"RRM1 single nucleotide polymorphism -37C\u2192A correlates with progression-free survival in NSCLC patients after gemcitabine-based chemotherapy","article_path":"articles/PMC2855513.md","variant_annotation_id":1184175240,"variant_haplotypes":"rs9937","gene":"RRM1","drugs":"carboplatin, gemcitabine","pmid":20226083,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to carboplatin and gemcitabine in people with Carcinoma, Non-Small-Cell Lung as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479790,"variant_haplotypes":"rs10458360","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11755583","article_title":"ABCB1 Polymorphism Is Associated with Higher Carbamazepine Clearance in Children","article_path":"articles/PMC11755583.md","variant_annotation_id":1452852860,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"carbamazepine","pmid":39846525,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"In addition to the ABCB1 genotype, the present study confirmed that the male sex, the CYP1A2 \u2212163A/A genotype and higher CBZ daily dosage are associated with increased CBZ clearance\". The article does not contain much information about CYP1A2 since it focuses on the association with ABCB1. Annotation done on rs762551 (-163C>A). PharmVar released an updated CYP1A2 nomenclature 12/2024. At this point, -163 C>A was included in 26 core alleles with *30 being the SNP by itself. The 25 other core alleles include the -163 C>A SNP in addition to amino acid changes.","sentence":"Genotype AA is associated with increased clearance of carbamazepine in children with Epilepsy.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2928561","article_title":"A polymorphism in the VKORC1-regulator calumenin predicts higher warfarin doses in African-Americans","article_path":"articles/PMC2928561.md","variant_annotation_id":637879876,"variant_haplotypes":"rs339097","gene":"CALU","drugs":"warfarin","pmid":20200517,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with increased dose of warfarin.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166100,"variant_haplotypes":"rs4627790","gene":"CMTM8","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9028965","article_title":"Influence of Receptor Polymorphisms on the Response to \u03b1-Adrenergic Receptor Blockers in Pheochromocytoma Patients","article_path":"articles/PMC9028965.md","variant_annotation_id":1451770080,"variant_haplotypes":"rs10515807","gene":"ADRA1B","drugs":"doxazosin, phenoxybenzamine","pmid":35453646,"phenotype_category":"Dosage","significance":"no","notes":"\"The G alleles of rs10515807 in the ADRA1B gene and rs553668 in the ADRA2A gene both caused a three times lower risk of being in a higher dosage step than allele A\" \"However, none of these significances survived the multiple testing correction.\"","sentence":"Allele G is associated with decreased dose of doxazosin or phenoxybenzamine in people with Pheochromocytoma or Paraganglioma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pheochromocytoma, Other:Paraganglioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4757974","article_title":"Tafenoquine treatment of Plasmodium vivax malaria: suggestive evidence that CYP2D6 reduced metabolism is not associated with relapse in the Phase 2b DETECTIVE trial","article_path":"articles/PMC4757974.md","variant_annotation_id":1447954876,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"primaquine","pmid":26888075,"phenotype_category":"Efficacy","significance":"yes","notes":"Please not patients are co-treated with chloroquine. relapse frequency was higher in PQ-treated subjects who were IM (50 %) than in EM subjects (17 %), p = 0.05, odds ratio = 9.18 (95 % CI 1.00, 8). Genotyped with Affymetrix\u00ae DMET-Plus array. Phenotype grouping: poor metabolizers two no function alleles; intermediate metabolizers (IM) one null and one decreased function allele or two decreased function alleles, or one null allele and one normal allele; extensive metabolizers (EM) if they carried two normal alleles or one normal allele and one deficient allele.","sentence":"CYP2D6 *4/*41 + *1/*4 + *10/*10 + *10/*41 + *2/*4 + *41/*41 is associated with decreased response to primaquine in people with Malaria as compared to CYP2D6 *1/*10 + *1/*41 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2.","alleles":"*4/*41 + *1/*4 + *10/*10 + *10/*41 + *2/*4 + *41/*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Malaria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*10 + *1/*41 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994443,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.; Allele also known as CYP3A5*3.","sentence":"Allele C is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7718230","article_title":"Association of clozapine-related metabolic disturbances with CYP3A4 expression in patients with schizophrenia","article_path":"articles/PMC7718230.md","variant_annotation_id":1451684680,"variant_haplotypes":"CYP3A4 low activity","gene":"CYP3A4","drugs":"n-desmethylclozapine","pmid":33277605,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Authors state that \"strong association was observed between norclozapine formation and CYP3A4 expression\", where low expression of CYP3A4 in patients\u2019 peripheral leukocytes was associated with higher clozapine concentrations and lower n-desmethylclozapine (also known as norclozapine), compared to normal/high expression of CYP3A4 in patients\u2019 peripheral leukocytes. Authors did genotype for some CYP1A2 and CYP3A4/5 alleles but these \"alleles did not explain the inter-individual differences in CYP3A4 mRNA levels\" and \"hepatic CYP1A2 and CYP3A4 activities were therefore estimated from mRNA levels in patients\u2019 leukocytes, categorizing the patients into low, normal and high expresser groups\"","sentence":"CYP3A4 low activity is associated with decreased concentrations of n-desmethylclozapine in people with Schizophrenia as compared to CYP3A4 high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} -{"pmcid":"PMC6432766","article_title":"Sorafenib is an Inhibitor of UGT1A1 but is Metabolized by UGT1A9: Implications of Genetic Variants on Pharmacokinetics and Hyperbilirubinemia","article_path":"articles/PMC6432766.md","variant_annotation_id":1446907186,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"sorafenib","pmid":22307138,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"patients carrying only UGT1A1*28, and possibly UGT1A9*3, alleles are at an; increased risk of elevated sorafenib concentrations, as well as a greater incidence of HFSR. However, there remained a group of patients carrying UGT1A1*28/*28 and ABCC2 -24C>T that had abnormally low sorafenib AUC, thereby complicating this analysis.","sentence":"UGT1A1 *1/*28 + *28/*28 are associated with increased exposure to sorafenib in people with Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449165252,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"yes","notes":"ABCG2 genotype and diuretic use explained 53% of the variability in prediction error.","sentence":"Allele T is associated with increased dose of allopurinol in people with Gout as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6980920","article_title":"Early Tacrolimus Concentrations After Lung Transplant are Predicted by Combined Clinical and Genetic Factors and Associated with Acute Kidney Injury","article_path":"articles/PMC6980920.md","variant_annotation_id":1451118200,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"tacrolimus","pmid":31513279,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were poor metabolizers had roughly 50% higher tacrolimus concentration:dose ratio (CDR) values compared with; intermediate and extensive metabolizers, consistent with reduced tacrolimus metabolism. Absolute tacrolimus concentrations were higher in these patients as well. \"A model with clinical and pharmacogenetic factors explained 42% of concentration variance compared with 19% for pharmacogenetic factors only.\" \"Early tacrolimus exposure variability is explained in part by CYP3A5 genotype, but clinical factors accounted for substantial residual variability.\"","sentence":"CYP3A5 *3/*3 + *6/*6 + *7/*7 + *3/*6 + *3/*7 + *6/*7 (assigned as poor metabolizer phenotype) are associated with decreased metabolism of tacrolimus in people with lung transplantation as compared to CYP3A5 *1/*1 + *1/*3 + *1/*6 + *1/*7 (assigned as intermediate metabolizer and normal metabolizer phenotype) .","alleles":"*3/*3 + *6/*6 + *7/*7 + *3/*6 + *3/*7 + *6/*7","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3 + *1/*6 + *1/*7","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC6989102","article_title":"Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system","article_path":"articles/PMC6989102.md","variant_annotation_id":1450969200,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenytoin","pmid":31461080,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared to CYP2C9 extensive metabolizers, low-intermediate/poor metabolizers had a 21.3-pg/mL increase (95% CI: 13.6\u201329.0pg/mL; P<0.01)","sentence":"CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are associated with increased concentrations of phenytoin as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5496345","article_title":"Pharmacogenetic evaluation to assess breakthrough psychosis with aripiprazole long-acting injection: a case report","article_path":"articles/PMC5496345.md","variant_annotation_id":1449140243,"variant_haplotypes":"rs1799732","gene":"DRD2","drugs":"aripiprazole","pmid":28673279,"phenotype_category":"Efficacy","significance":"not stated","notes":"A 51 y.o African-American man with schizoaffective disorder, depressive and post-traumatic stress disorder was referred to a community mental health center to address medication non-adherence and lack of medication effectiveness. The patient began treatment with long-acting injectable (LAI) aripiprazole (400 mg) every 4-weeks plus 30 mg/day of oral aripiprazole, which was reduced to 15 mg/day 2-weeks post-injection. 8 weeks later psychiatric symptoms improved and over 12-weeks, dose was reduced to 5 mg/day. Within 4-weeks of this dosing strategy, auditory hallucinations returned and worsened. Oral aripiprazole dose increased to 7.5 mg/day with improvement in symptoms but at 2-week and 3 week follow-ups auditory hallucinations returned so aripiprazole LAI frequency increased to every 3-weeks (and 7.5 mg/day oral). Pharmacogenetic testing revealed the patient to carry the rs1799732 (-141C/ Del) variant (without complement to the + chromosomal strand) and he was switched to 882 mg/3 weeks of injectable aripiprazole lauroxil without oral aripiprazole in December of 2015 and as of February 2017 continues to tolerate the aripiprazole lauroxil and reports not needing oral aripiprazole.","sentence":"Genotype G/del is associated with decreased response to aripiprazole in people with schizoaffective disorder.","alleles":"G/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizoaffective disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11012255","article_title":"Single Nucleotide Polymorphisms of CYP3A4 and CYP3A5 in Romanian Kidney Transplant Recipients: Effect on Tacrolimus Pharmacokinetics in a Single-Center Experience","article_path":"articles/PMC11012255.md","variant_annotation_id":1452443463,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":38610733,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Concerning the CYP3A4*1.001 allele, the C0/D ratio exhibited a statistically significant difference between carriers and non-carriers across different periods (overall p = 0.016, during 1\u201314 days p = 0.015, during 31\u201360 days p = 0.011, and beyond 60 days p = 0.015).\" No CC were observed.","sentence":"Genotype CT is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165394,"variant_haplotypes":"rs61764370","gene":"KRAS","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 5 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4155516","article_title":"Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes","article_path":"articles/PMC4155516.md","variant_annotation_id":1184748512,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":25084200,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"*1/*2 is determined as *1/*2A and *1/*2B. Significantly higher trough concentrations (adjusted for daily dose) were observed in patients with the *1/*2A or *1/*2B diplotypes. None of these patients had therapeutic concentrations. CYP2C19*17 was defined as rs12248560 c.-806C>T, *2A as rs4244285 c.681G>A, *2B as rs4244285 and rs17878459 c.276G>C, and *1 as none of these variants.","sentence":"CYP2C19 *1/*2 (assigned as intermediate metabolizer phenotype) is associated with increased dose-adjusted trough concentrations of voriconazole in children with Neoplasms as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928156,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4201132","article_title":"Gene Variants in CYP2C19 Are Associated with Altered In Vivo Bupropion Pharmacokinetics but Not Bupropion-Assisted Smoking Cessation Outcomes","article_path":"articles/PMC4201132.md","variant_annotation_id":1184985811,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"bupropion","pmid":25187485,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Healthy volunteers were given 150 mg of bupropion once a day for 7 days. On day 7 plasma samples were taken every 4 hours for a 24-hour period as well as a complete urine sample. The steady-state plasma area under the plasma concentration-time curve for bupropion, erythrohydrobupropion and theohydrobupropion or hydroxybupropion did not significantly differ between the CYP2C19*17 allele as compared to the CYP2C19*1.","sentence":"CYP2C19 *17 is not associated with exposure to bupropion in healthy individuals as compared to CYP2C19 *1.","alleles":"*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4560372","article_title":"Association between CXCL10 and DPP4 Gene Polymorphisms and a Complementary Role for Unfavorable IL28B Genotype in Prediction of Treatment Response in Thai Patients with Chronic Hepatitis C Virus Infection","article_path":"articles/PMC4560372.md","variant_annotation_id":1446904199,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26339796,"phenotype_category":"Efficacy","significance":"yes","notes":"PEG-interferon alfa (2a and b) was co-administered with ribavirin. Response was assessed by sustained virological response (SVR) percent by genotype. HCV RNA <400,000 IU/ml, age, and low stage liver fibrosis were also independently associated with SVR.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b or ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5526237","article_title":"Association between the XRCC1 polymorphisms and clinical outcomes of advanced NSCLC treated with platinum-based chemotherapy: a meta-analysis based on the PRISMA statement","article_path":"articles/PMC5526237.md","variant_annotation_id":1448640016,"variant_haplotypes":"rs1799782","gene":"XRCC1","drugs":"Platinum compounds","pmid":28743242,"phenotype_category":"Efficacy","significance":"yes","notes":"Pooled odds ratios (ORs) were performed for an allele model, a homozygous model, a heterozygous model, a recessive model and a dominant model. The association was only significant for response rate with the recessive model, but was not associated with overall survival or progression free survival.","sentence":"Allele G is associated with decreased response to Platinum compounds in people with Lung Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4356640","article_title":"Evaluation of CYP2D6 enzyme activity using a Dextromethorphan Breath Test in Women Receiving Adjuvant Tamoxifen","article_path":"articles/PMC4356640.md","variant_annotation_id":1444697908,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"endoxifen","pmid":25714002,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The patients were treated with tamoxifen. Neither tamoxifen, desmethyltamoxifen, or hydroxytamoxifen pharmacokinetics were found to differ by CYP2D6 genotype.The study found that the CYP2D6 genotype was positively correlated with endoxifen steady-state concentrations at 3 month (r=0.47, P<0.0001, n=57), at 6 month (r=0.56, P<0.0001, n=54) and the ratio endoxifen/desmethyltamoxifen at 3 month (r=0.60, P<0.0001, n=57) and the 6 month (r=0.61, P<0.0001). The article describes a CYP2D6 genotype association without reporting how the metabolizer categories were group together. The study had patients with ultrarapid, extensive, intermediate and poor metabolizer phenotype.","sentence":"CYP2D6 *1/*1 + *2/*2 + *1/*2 (assigned as normal metabolizer phenotype) is associated with increased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *3/*41 + *4/*9 + *4/*10 + *4/*41 + *3/*4 + *4/*4.","alleles":"*1/*1 + *2/*2 + *1/*2","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*41 + *4/*9 + *4/*10 + *4/*41 + *3/*4 + *4/*4","comparison_metabolizer_types":null} -{"pmcid":"PMC5548439","article_title":"Genetic coding variants in the niacin receptor, hydroxyl-carboxylic acid receptor 2 (HCAR2), and response to niacin therapy","article_path":"articles/PMC5548439.md","variant_annotation_id":1448635792,"variant_haplotypes":"rs2454727","gene":"HCAR2","drugs":"niacin","pmid":28628560,"phenotype_category":"Efficacy","significance":"yes","notes":"The study compared statin + placebo treated patients with statin + extended release niacin treated patients from the from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial. In White patients, the reduction in lipoprotein (a) [Lp(a)] in response to niacin was greater in subjects with the CC genotype.","sentence":"Genotypes CT + TT is associated with decreased response to niacin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1184886879,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2950972","article_title":"Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers","article_path":"articles/PMC2950972.md","variant_annotation_id":1449161492,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nalmefene","pmid":18537939,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to nalmefene in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973968,"variant_haplotypes":"rs67562832","gene":"PIK3CA","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3753327","article_title":"Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model","article_path":"articles/PMC3753327.md","variant_annotation_id":1183697705,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":23990957,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP was presented as VKORC1 1173C>T. Patients carrying the A allele showed significantly lower doses of warfarin as compared to patients with the wildtype genotype, GG.","sentence":"Genotypes AA + AG is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767372,"variant_haplotypes":"rs35822937","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184512509,"variant_haplotypes":"rs12505410","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"As part of a haplotype with rs2725252: those with the G-C haplotype (rs12505410-rs2725252) had a significantly higher cumulative incidence major molecular response (CI-MMR) as compared to those with any other haplotype (i.e. G-A, T-C, T-A). This study was done in an exploratory cohort (n=105) and a validation cohort (n=239); within the validation cohort, patients were either taking a 400mg/day dose of imatinib (n=132) or a 600mg/day dose (n=107). Results were NOT significant for those taking a 600mg/day dose. Please note that alleles for rs2725252 have been complemented to the plus chromosomal strand.","sentence":"Allele G is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166140,"variant_haplotypes":"rs929740","gene":"ARHGEF28","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3674704","article_title":"IL28B expression depends on a novel TT/-G polymorphism which improves HCV clearance prediction","article_path":"articles/PMC3674704.md","variant_annotation_id":1444706410,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":23712427,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype is associated with decreased incidence of sustained virological response (SVR; OR: 0.37, 95%CI:[0.23\u20130.59], P=2.47E-5, multivariate analysis) when compared to CT/CC genotypes. However, when rs368234815 and rs12979860 were introduced in the same logistic model, the TT genotype was associated with increased incidence of SVR (OR: 3.41, 95%CI:[1.01\u201311.4], P=0.0477). Hence, the polarity of the association between rs12979860-TT genotype and SVR is questionable.","sentence":"Genotype TT is not associated with response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826752,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"no","notes":"Subgroup analysis of schizophrenia patients only found no significant difference in the number of cigarettes smoked per day between the genotype groups. However, the authors noted that female schizophrenia patients with the GG genotype reported smoking significantly more cigarettes per day than male schizophrenia patients carrying the A allele (p=0.28)","sentence":"Genotypes AA + AG are not associated with exposure to nicotine in people with Schizophrenia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451105025,"variant_haplotypes":"rs734312","gene":"WFS1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele G is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2722908","article_title":"Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data","article_path":"articles/PMC2722908.md","variant_annotation_id":655387565,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":19228618,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694721,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"yes","notes":"58/220 patients had the target INR (1.5\u20132.5). The comparison of weekly warfarin maintenance dose was among patients of different genotypes. The AA genotype of rs9923231 required a significantly lower maintenance dose than the AG genotype (rs9923231: 19.21\u00b15.66 mg/w vs 28.62\u00b18.02 mg/w, p < 0.001; ANOVA). rs9923231 and rs1057910 had significant effects on maintenance dose (rs9923231: coefficient was 1.398, p < 0.001; rs1057910: coefficient was-0.994, p < 0.001) and together explained apx. 32.0% of warfarin maintenance dose variability.","sentence":"Genotype TT is associated with decreased dose of warfarin in people with as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107160,"variant_haplotypes":"rs1801252","gene":"ADRB1","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or white patients.","sentence":"Allele G is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5645220","article_title":"Polymorphisms in CYP2C9 are associated with response to indomethacin among neonates with patent ductus arteriosus","article_path":"articles/PMC5645220.md","variant_annotation_id":1451140100,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"indomethacin","pmid":28609430,"phenotype_category":"Efficacy","significance":"no","notes":"among neonates with patent ductus arteriosus (PDA).","sentence":"Allele T is associated with increased response to indomethacin as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4544820","article_title":"Pharmacogenetic Study of Serotonin Transporter and 5HT2A Genotypes in Autism","article_path":"articles/PMC4544820.md","variant_annotation_id":1448105573,"variant_haplotypes":"rs7997012","gene":"HTR2A","drugs":"escitalopram","pmid":26262902,"phenotype_category":"Efficacy","significance":"no","notes":"Participants were enrolled in a 6 week, forced titration, open label examination. Doses started at 2.5 mg/day up to a possible dose of 20 mg/ day. The study compared AA to AG to GG genotypes and found no significant association.","sentence":"Allele A is not associated with increased response to escitalopram in people with Autistic Disorder as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autism","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5589489","article_title":"NCCTG N0543 (Alliance): A Phase II Trial of Pharmacogenetic-Based Dosing of Irinotecan, Oxaliplatin, and Capecitabine as First-Line Therapy for Advanced Small Bowel Adenocarcinoma","article_path":"articles/PMC5589489.md","variant_annotation_id":1451214640,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":28493308,"phenotype_category":"Dosage","significance":"not stated","notes":"Patients were genotyped and dosed according to genotype. Study then examined if this reduced severe toxicities.","sentence":"UGT1A1 *28 is associated with decreased dose of irinotecan in people with Adenocarcinoma and Gastrointestinal Neoplasms as compared to UGT1A1 *1.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Adenocarcinoma, Other:Gastrointestinal Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10526247","article_title":"Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients","article_path":"articles/PMC10526247.md","variant_annotation_id":1452263360,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"antiepileptics","pmid":37760947,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. \"good responders were classified as those who were totally free from seizures for at least 1 year during treatment with ASMs as a monotherapy or in combination at optimal tolerated therapeutic doses.\" \"good responders were significantly more likely to have the TT genotypes at rs1045642 and rs2032582 SNPs compared to poor responders.\" Specific antiseizure medications not mentioned.","sentence":"Genotype AA is associated with increased clinical benefit to antiepileptics in children with Epilepsy as compared to genotypes AC + CC.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4982759","article_title":"Genotype-Dependent Effects of Dalcetrapib on Cholesterol Efflux and Inflammation: Concordance With Clinical Outcomes","article_path":"articles/PMC4982759.md","variant_annotation_id":1448125943,"variant_haplotypes":"rs1967309","gene":"ADCY9","drugs":"dalcetrapib","pmid":27418594,"phenotype_category":"Efficacy","significance":"yes","notes":"Part of the dal-OUTCOMES and dal-PLAQUE-2 studies. Outcome was mean change in cholesterol efflux. Patients with the AG genotype had intermediate response.","sentence":"Genotype AA is associated with increased response to dalcetrapib in people with as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695486,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele T is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511056,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of GG, AG and AA did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3991683","article_title":"IFNL4 ss469415590 Variant Shows Similar Performance to rs12979860 as Predictor of Response to Treatment against Hepatitis C Virus Genotype 1 or 4 in Caucasians","article_path":"articles/PMC3991683.md","variant_annotation_id":1184168705,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2a, ribavirin","pmid":24748394,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were infected with HCV genotype 1 or 4. Sustained viral response (SVR) was defined as undetectable plasma HCV RNA 24 weeks after the completion of treatment. The two SNPs rs12979860 (IL28B) and rs368234815 (IFNL4) are in strong LD (r squared of 0.82). The -G allele of rs368234815 causes a frame shift in the DNA sequence (TT-> -G) which has been shown, in vitro, to induce expression of IFNL4, possibly affecting HCV clearance.; The SNPs were also tested by HCV genotype (1 or 4) and were both equally predictive.; The AUROC model that included rs368234815 was 0.756 (95% CI: 0.687-0.826)","sentence":"Genotype TT/TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C as compared to genotypes G/TT + GG.","alleles":"TT/TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166076,"variant_haplotypes":"rs2799018","gene":"ARHGAP12","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602065,"variant_haplotypes":"rs2942857","gene":"UGT2B10","drugs":"nicotine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This annotation was on rs116294140, but dbSNP has merged these two rs IDs.","sentence":"Genotype CC is not associated with increased clearance of nicotine in people with Tobacco Use Disorder as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046672,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype CC is not associated with increased dose of phenprocoumon as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811875,"variant_haplotypes":"rs548646","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"The T allele was associated with increased scores in the buzzed, clumsy and dizzy traits as well as increased total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is associated with increased response to ethanol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC1746721","article_title":"Effects of captopril administration on pulmonary haemodynamics and tissue oxygenation during exercise in ACE gene subtypes in patients with COPD: a preliminary study","article_path":"articles/PMC1746721.md","variant_annotation_id":982042579,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"captopril","pmid":12832683,"phenotype_category":"Efficacy","significance":"yes","notes":"The del/del genotype is associated with a increased mean pulmonary arterial pressure (mPAP; units = mmHg) and increased pulmonary vascular resistance (PVR; units = mmHg/l/min/m2) after exercise, as compared to the remaining genotypes. This indicates a decreased response to captopril.","sentence":"Genotype del/del is associated with decreased response to captopril in men with Pulmonary Disease, Chronic Obstructive as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del.","alleles":"del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Chronic Obstructive Pulmonary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del","comparison_metabolizer_types":null} -{"pmcid":"PMC4304713","article_title":"Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses","article_path":"articles/PMC4304713.md","variant_annotation_id":1444694036,"variant_haplotypes":"rs3845446","gene":"CACNA1E","drugs":"fentanyl","pmid":25615449,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.","sentence":"Genotype TT is not associated with dose of fentanyl in people with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995921,"variant_haplotypes":"rs7574865","gene":"STAT4","drugs":"adalimumab","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"No significant associations were seen at either six months or two years after the beginning of treatment when response was measured as number of patients in remission or with low disease activity or by EULAR score.","sentence":"Allele T is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453075941,"variant_haplotypes":"rs4664443","gene":"DPP4","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Similarly, for the rs4664443 GG genotype, the median HbA1c improvement in the study group was 0.69 (IQR, 0.48\u20130.91) compared with 1.25 (IQR, 1.00\u20131.46) in the control group (P\u2005<\u2005.001), indicating lower efficacy of sitagliptin.\"","sentence":"Genotype GG is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188641,"variant_haplotypes":"rs3814055","gene":"NR1I2","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The T allele is associated with longer half-life of methotrexate.","sentence":"Allele T is associated with decreased metabolism of methotrexate in children with Osteosarcoma as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8973308","article_title":"Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia","article_path":"articles/PMC8973308.md","variant_annotation_id":1451768380,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"mercaptopurine","pmid":35431360,"phenotype_category":"Dosage","significance":"no","notes":"Authors stated \"Although no statistically significant associations were identified, two of the four patients; heterozygous for NUDT15 required a decrease in 6-MP during the follow-up period. \" No TT homozygotes were observed. \"Studies with a larger population size are needed\"","sentence":"Genotype CT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6049926","article_title":"No association between IFNL3 (IL28B) genotype and response to peginterferon alfa-2a in HBeAg-positive or -negative chronic hepatitis B","article_path":"articles/PMC6049926.md","variant_annotation_id":1449713162,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a","pmid":30016335,"phenotype_category":"Efficacy","significance":"no","notes":"The authors found no association between IFNL3 genotype and peginterferon 2a response in either HBeAg-positive or HBeAg-negative chronic hepatitis B patients, in both Asian and White patients.","sentence":"Genotype CC is not associated with response to peginterferon alfa-2a in people with Hepatitis B, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis B, Chronic","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678447,"variant_haplotypes":"rs2234922","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Efficacy","significance":"no","notes":"The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups.","sentence":"Genotype AA is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003399,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: CC +TC (0.45 (0.09\u201341.63)) vs. TT(0.46 (0.15\u201310.29)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes CC + CT are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10377184","article_title":"DRD2, DRD3, and HTR2A Single-Nucleotide Polymorphisms Involvement in High Treatment Resistance to Atypical Antipsychotic Drugs","article_path":"articles/PMC10377184.md","variant_annotation_id":1452200441,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"antipsychotics","pmid":37509727,"phenotype_category":"Efficacy","significance":"no","notes":"\" The HTR2A rs6311 C|T vs. C|C genotype inversely predicted the; HTR group membership with a significant trend (OR = 0.333; B = \u22121.1; p = 0.059).\"","sentence":"Genotype CT is associated with decreased resistance to antipsychotics in people with Mood Disorders or Schizophrenia as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mood Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907901,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with metabolism of cyclophosphamide in people with as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6813860","article_title":"Effect of N-Acetyltransferase 2 (NAT2) Genotype on the Pharmacokinetics of Hydralazine during Pregnancy","article_path":"articles/PMC6813860.md","variant_annotation_id":1451135223,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*16","gene":"NAT2","drugs":"hydralazine","pmid":31257615,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Originally annotated as NAT2 *4/*5D + *4/*6B + *4/*7A (assigned as rapid acetylator phenotype) compared to NAT2 *5D/*5D + *5D/*6B + *5D/*7A + *6B/*6B (assigned as slow acetylator phenotype). RA group had faster weight-adjusted hydralazine apparent oral clearance (70.0 \u00b1 13.6 vs 20.1 \u00b1 6.9 L/h, P < .05), lower dose-normalized area under the concentration-time curve (AUC; 1.5 \u00b1 0.8 vs 5.9 \u00b1 3.7 ng\u00b7h/mL, P < .05), lower dose-normalized peak concentrations (0.77 \u00b1 0.51 vs 4.04 \u00b1 3.18 ng/mL, P < .05), and larger weight-adjusted apparent oral volume of distribution (302 \u00b1 112 vs 116 \u00b1 45 L/kg, P < .05) compared to slow acetylators.; Single-nucleotide polymorphisms (SNPs) in the NAT2 coding region and their corresponding haplotypes were determined using 4-SNP assays, that is, rs181280,c.341T > C; rs1799930, c.590G > A; rs1799931,c.857G > A; rs1801279, c.191G > A, with TaqMan Assays. Subjects were classified as slow acetylators if they had 2 reduced-activity NAT2 alleles (*5, *6, *7, or*14), or rapid acetylators if they carried 1 reduced-activity allele and 1 fully functional allele (*4) or 2 fully functional alleles.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles in this annotation are mapped as following: NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *4/*16 + *4/*6 + *4/*7 (assigned as rapid acetylator phenotype) are associated with increased metabolism of hydralazine in women with Hypertension and Pregnancy as compared to NAT2 *16/*16 + *16/*6 + *16/*7 + *6/*6 (assigned as slow acetylator phenotype) .","alleles":"*4/*16 + *4/*6 + *4/*7","specialty_population":null,"metabolizer_types":"rapid acetylator","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Hypertension, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*16/*16 + *16/*6 + *16/*7 + *6/*6","comparison_metabolizer_types":"slow acetylator"} -{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820454,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considering DONOR genotype - those with the CT or TT genotype had decreased concentration/dose ratios as compared to those with the CC genotype at weeks 1-4 of treatment. In multiple linear regression analysis, donor rs776746 genotype was significantly associated with concentration/dose ratio at week 1 (p<0.001), 3 (p=0.031) and 4 (p=0.027) of treatment. Patients with hepatocellular carcinoma. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with decreased dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862176,"variant_haplotypes":"rs5746849","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs737866, rs740603, rs6269, rs2239393, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele A is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821818,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"ritonavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes GT + TT are not associated with concentrations of ritonavir in children with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171411,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is not associated with concentrations of tacrolimus in children with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407765,"variant_haplotypes":"rs4818","gene":"COMT","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele G is not associated with response to butorphanol in healthy individuals as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5808057","article_title":"No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA","article_path":"articles/PMC5808057.md","variant_annotation_id":1449160237,"variant_haplotypes":"rs36029","gene":"SLC6A2","drugs":"3,4-methylenedioxymethamphetamine","pmid":29198060,"phenotype_category":"Other","significance":"yes","notes":"The AA genotype was associated with increased mean arterial pressure, but not plasma concentrations , or heart rate.","sentence":"Genotype AA is associated with increased response to 3,4-methylenedioxymethamphetamine as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794102,"variant_haplotypes":"rs8187758","gene":"SLC28A1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC3414671","article_title":"Naltrexone Modification of Drinking Effects in a Sub-Acute Treatment and Bar-Lab Paradigm: Influence of OPRM1 and Dopamine Transporter (SCL6A3) Genes","article_path":"articles/PMC3414671.md","variant_annotation_id":1449161170,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":22551036,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Authors caution that the lack of observed association between rs1799971 and alcohol consumption may be due to differences in the study cohort, bias or a type II error.","sentence":"Allele A is not associated with response to ethanol in people with Alcoholism as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2660379","article_title":"SLC6A4 Variation and Citalopram Response","article_path":"articles/PMC2660379.md","variant_annotation_id":981477870,"variant_haplotypes":"rs25531","gene":"SLC6A4","drugs":"citalopram","pmid":18618621,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to citalopram in people with Depression as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729373,"variant_haplotypes":"rs4149032","gene":"SLCO1B1","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes CT + TT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC8533258","article_title":"Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder","article_path":"articles/PMC8533258.md","variant_annotation_id":1451648927,"variant_haplotypes":"rs698","gene":"ADH1C","drugs":"naltrexone","pmid":34680127,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The C allele is also referred to as the ADH1C*1 allele in the paper. Patients carrying the C allele reported fewer drinking days during naltrexone treatment.","sentence":"Allele C is associated with increased response to naltrexone in men with Alcoholism as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104881,"variant_haplotypes":"rs2201169","gene":"GABRA3","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7883889","article_title":"A Delta-Opioid Receptor Gene Polymorphism Moderates the Therapeutic Response to Extended-Release Buprenorphine in Opioid Use Disorder","article_path":"articles/PMC7883889.md","variant_annotation_id":1451676184,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"buprenorphine","pmid":32920647,"phenotype_category":"Efficacy","significance":"no","notes":"This was found in African Americans only. The opposite association was found in European Americans.","sentence":"Genotype CC is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6920759","article_title":"Evaluation of the Effect of CYP2D6 Genotypes on Tramadol and O-Desmethyltramadol Pharmacokinetic Profiles in a Korean Population Using Physiologically-Based Pharmacokinetic Modeling","article_path":"articles/PMC6920759.md","variant_annotation_id":1451134163,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"tramadol","pmid":31744222,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Note that no statistical analysis was carried out on data from the clinical study. All IMs had the *10/*10 genotype, while all PMs had the *5/*5 genotype. The genotypes of all NMs are not given and the study did not look for CNVs to identify UMs.","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer are associated with increased concentrations of tramadol in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4764353","article_title":"Lumacaftor\u2013Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR","article_path":"articles/PMC4764353.md","variant_annotation_id":1449192588,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, lumacaftor","pmid":25981758,"phenotype_category":"Efficacy","significance":"yes","notes":"Changes in FEV1, BMI, CFQ-R score and number of pulmonary exacerbation events were measured to determine response.","sentence":"Genotype del/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3016221","article_title":"Genetic variants in the KIF6 region and coronary event reduction from statin therapy","article_path":"articles/PMC3016221.md","variant_annotation_id":981482201,"variant_haplotypes":"rs9471077","gene":"KIF6","drugs":"atorvastatin, pravastatin","pmid":20886236,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with increased response to atorvastatin or pravastatin.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121701,"variant_haplotypes":"rs10753331","gene":"OPRD1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele A is not associated with response to oxycodone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4735961","article_title":"Case report: Severe central nervous system manifestations associated with aberrant efavirenz metabolism in children: the role of CYP2B6 genetic variation","article_path":"articles/PMC4735961.md","variant_annotation_id":1448997108,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":26831894,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz in children with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3984266","article_title":"Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer","article_path":"articles/PMC3984266.md","variant_annotation_id":1446895521,"variant_haplotypes":"rs10795668","gene":null,"drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":24727911,"phenotype_category":"Efficacy","significance":"no","notes":"SNPs were investigated for their effects on response rate, time to progression and overall survival. After accounting for multiple testing there was no association with any SNPs and outcomes of patients with metastatic colorectal cancer.","sentence":"Allele A is not associated with response to fluorouracil, irinotecan and oxaliplatin in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6081148","article_title":"Role of TNFRSF1A and TNFRSF1B polymorphisms in susceptibility, severity, and therapeutic efficacy of etanercept in human leukocyte antigen-B27-positive Chinese Han patients with ankylosing spondylitis","article_path":"articles/PMC6081148.md","variant_annotation_id":1449713713,"variant_haplotypes":"rs767455","gene":"TNFRSF1A","drugs":"etanercept","pmid":30075559,"phenotype_category":"Efficacy","significance":"no","notes":"Response to etanercept was determined using the Assessment in Ankylosing Spondylitis 20 (ASAS20) and Assessment in Ankylosing Spondylitis 40 (ASAS40). No significant difference in response was seen between genotypes at either 3 months or 12 months after initiation of etanercept treatment.","sentence":"Genotype CT is not associated with response to etanercept in people with Spondylitis, Ankylosing as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Spondylitis, Ankylosing","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6891932","article_title":"Effects of SLCO1B1 polymorphisms on plasma estrogen concentrations in women with breast cancer receiving aromatase inhibitors exemestane and letrozole","article_path":"articles/PMC6891932.md","variant_annotation_id":1450934891,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*5","gene":"SLCO1B1","drugs":"estrone","pmid":31190621,"phenotype_category":"Efficacy","significance":"yes","notes":"when treated with aromatase inhibitors.","sentence":"SLCO1B1 *5/*5 is associated with increased concentrations of estrone in women with Breast Neoplasms as compared to SLCO1B1 *1/*1 + *1/*5.","alleles":"*5/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*5","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161488,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype or phenotype frequencies between responders and non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for. Variant referred to as C3435T. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6939828","article_title":"Identification of Cytochrome P450 Polymorphisms in Burn Patients and Impact on Fentanyl Pharmacokinetics: A Pilot Study","article_path":"articles/PMC6939828.md","variant_annotation_id":1451440560,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"fentanyl","pmid":30371861,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single patient identified with the CYP3A4*1B allele. Clearance of fentanyl in this patient was significantly lower than in patients without the *1B allele. Mapped *1B to rs2740574 C and *1A to rs2740574 T based on PharmVAR consolidation of core alleles.","sentence":"Allele C is associated with decreased clearance of fentanyl in people with Burns as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Burns","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446748136,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"yes","notes":"The genotype was not associated with progression free survival, or overall survival. Clinical benefit is defined as either partial response or stable disease and lack of clinical benefit as progressive disease. This was more significant when calculated for the haplotype rs1045642 T, rs1128503 T, and rs2032582 T. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with decreased response to sunitinib in people with Carcinoma, Renal Cell.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2709885","article_title":"Genetic variation of CYP2C19 affects both pharmacokinetic and pharmacodynamic responses to clopidogrel but not prasugrel in aspirin-treated patients with coronary artery disease","article_path":"articles/PMC2709885.md","variant_annotation_id":1184469934,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17","gene":"CYP2C19","drugs":"clopidogrel","pmid":19429918,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":"VASP platelet reactivity index and VerifyNow(TM) P2Y12 reaction unit values were significantly higher in PM than in EM. Patients were also treated with aspirin. There were 37 EM (by genotype) and 9 PM (by genotype). Dosage was 600 mg loading/75 mg maintenance.","sentence":"CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*8 + *2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4522133","article_title":"Limited predictive value of achieving beneficial plasma (Z)-endoxifen threshold level by CYP2D6 genotyping in tamoxifen-treated Polish women with breast cancer","article_path":"articles/PMC4522133.md","variant_annotation_id":1448260990,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6","gene":"CYP2D6","drugs":"endoxifen","pmid":26232141,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Pre- and post menopausal patients received 20 mg/day tamoxifen for at least 1 month (median duration 21.5 month). DNA source was blood and CYP2D6 was genotyped with TaqMan allelic discrimination assays. PM (non-functional) alleles include: CYP2D6*3, *4, *5, *6, *7; IM (reduced function) alleles include: CYP2D6*9, *10, *17, *41; EM (wt; fully functional) alleles include CYP2D6*1 and *2; UM (increased function) alleles include: duplication of EM variants of the gene, such as CYP2D6*1XN and *2XN. Patients were assigned a CYP2D6 genotype depending on the combination of alleles they carry, as PM/PM, IM/PM, IM/IM, EM/PM, EM/IM, EM/EM or EM/UM.","sentence":"CYP2D6 *1/*4 + *2/*4 + *1/*5 + *1/*3 + *2/*5 + *1/*6 + *2/*3 + *2/*6 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*2 + *1/*1 + *2/*2.","alleles":"*1/*4 + *2/*4 + *1/*5 + *1/*3 + *2/*5 + *1/*6 + *2/*3 + *2/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*1 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC2291379","article_title":"Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants","article_path":"articles/PMC2291379.md","variant_annotation_id":1183617426,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline, opipramol","pmid":18070221,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"(*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) Tricyclic antidepressants were grouped together for this analysis (45.9 % of patients were taking Amitriptyline; 8.2% Maprotiline;6.6% Clomipramine; 2.9% Nortriptyline;2.4% Imipramine;0.7% Dosulepin;0.3% Doxepin;0.2% Opipramol. Mean TCA dose was significantly lower at the 3rd and 4th prescription (difference 0.11 DDD). Genotypes were not in Hardy-Weinberg equilibrium; frequency below is for a larger population that included patients treated with other antidepressants.","sentence":"CYP2D6 *4/*4 is associated with decreased dose of amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline or Opipramol in people with Depression as compared to CYP2D6 *1/*1.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184756122,"variant_haplotypes":"rs4917639","gene":"CYP2C9","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"yes","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\" rs4917639 only remained significantly associated with warfarin maintenance dose in the first cohort but did not remain significant in the multivariate analysis.","sentence":"Allele C is associated with decreased dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820578,"variant_haplotypes":"rs7443562","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference was seen when considering DONOR genotype at week 2 of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotype AA is not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4706412","article_title":"A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics","article_path":"articles/PMC4706412.md","variant_annotation_id":1447682605,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*8","gene":"CYP2C9","drugs":"warfarin","pmid":26745506,"phenotype_category":"Dosage","significance":"yes","notes":"The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: the derivation cohort was 99% male and \"variables were included in final lin. reg model if p<0.05 or if association with daily warfarin dose was marginally significant 0.05 = p = 0.20 with strong biological plausibility\".","sentence":"CYP2C9 *2 + *3 + *8 are associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*2 + *3 + *8","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002901,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"yes","notes":"Evidence of minimal residual disease at 78 days was higher in CC genotype vs. CT + TT.","sentence":"Genotype CC is associated with decreased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9891445","article_title":"Effects of genetic polymorphisms on methotrexate levels and toxicity in Chinese patients with acute lymphoblastic leukemia","article_path":"articles/PMC9891445.md","variant_annotation_id":1452008100,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"methotrexate","pmid":36742186,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"increased concentrations at 48 and 72 hours which was also reported as \"MTX elimination delay\". \"MTX elimination delay was defined as MTX concentration of >1.0 \u03bcmol/L at 48 hours and >0.3 \u03bcmol/L at 72 hours.\" Authors report: \"Moreover, MTX elimination delay was less in patients with SLC19A1 rs4149056 TC or CC genotype (OR 0.319, 95% CI: 0.138\u20130.736, P = 0.007).\" this gives the wrong gene for this variant identifier.","sentence":"Genotype TT is associated with increased exposure to methotrexate in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163317,"variant_haplotypes":"rs4253730","gene":"PPARA","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy for rs4823613 and rs4253728.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930632,"variant_haplotypes":"rs621849","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The G allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele G is not associated with exposure to nicotine in men as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104640,"variant_haplotypes":"rs3781719","gene":"CALCA","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele was found at a significantly higher frequency in non-responders than in responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is associated with decreased response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678435,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Efficacy","significance":"no","notes":"The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups.","sentence":"Genotype TT is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC2885152","article_title":"COMT Val108/158Met polymorphism modulates task-oriented behaviour in children with ADHD","article_path":"articles/PMC2885152.md","variant_annotation_id":1450376738,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":18580877,"phenotype_category":"Efficacy","significance":"no","notes":"No significant genotype by treatment interaction was observed (p=0.4), suggesting that COMT genotype does not modulate therapeutic response, at least at the dose of MPH tested (0.5\u00bfmg/kg). Restricted Academic Situation Scale (RASS) was used.","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678220,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors evaluated maintenance dose-adjusted concentrations of carbamazepine (CBZ), its active metabolite, CBZ-epoxide (CBZE), and its inactive metabolite CBZ-diol (CBZD) as well as CBZE:CBZ, CBZD:CBZ and CBZD:CBZE ratios. The TT genotype is associated with a lower mean dose adj. concentration of CBZ (microgram/mL per mg/Kg) (0.71 for the TT genotype vs. 0.92-1.11 for the CT and CC genotypes, respectively) as well as a higher mean CBZD:CBZ (0.43 for TT vs. 0.23-0.27 for the CT and CC genotypes, respectively). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype TT is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451105010,"variant_haplotypes":"rs7217270","gene":"TRPV3","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1029622","article_title":"Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia","article_path":"articles/PMC1029622.md","variant_annotation_id":1452649400,"variant_haplotypes":"TPMT deficiency","gene":"TPMT","drugs":"deoxy-thioguanosine triphosphate, thioguanosine triphosphate","pmid":8257179,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"These two children had higher levels of intracellular 6-thioguanine nucleotides, while taking 25% of the standard protocol dose, than did the other patients who were taking 100% of the protocol dose.","sentence":"TPMT deficiency is associated with increased concentrations of deoxy-thioguanosine triphosphate and thioguanosine triphosphate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4631185","article_title":"Effect of carboxylesterase 1 c.428G\u2009>\u2009A single nucleotide variation on the pharmacokinetics of quinapril and enalapril","article_path":"articles/PMC4631185.md","variant_annotation_id":1446899465,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"quinapril","pmid":25919042,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a fixed-order crossover study with two phases: following overnight fasting participants took a 10 mg dose of quinapril and, after a washout period of at least 1 week, a 10 mg dose of enalapril with 150 ml water in the morning and EDTA-prepared blood samples were drawn before and up to 24 hr, and up to 48 h after ingestion for the determination of the concentrations of quinapril and its metabolite quinaprilat, as well as enalapril and its metabolite enalaprilat. Urine was collected up to 12 h after quinapril and enalapril. Only AUC (0-infinity) and amount excreted in urine of enalaprilat were significantly different between genotype groups. Other PK parameters that were tested and not significantly different were Cmax, Tmax, T(1/2), and renal clearance.","sentence":"Genotype CT is not associated with clearance of quinapril in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10668502","article_title":"Impact of IL6R genetic variants on treatment efficacy and toxicity response to sarilumab in rheumatoid arthritis","article_path":"articles/PMC10668502.md","variant_annotation_id":1452308828,"variant_haplotypes":"rs11265618","gene":"IL6R","drugs":"sarilumab","pmid":38001504,"phenotype_category":"Efficacy","significance":"yes","notes":"\"For rs4329505 and rs11265618, the genetic model that best fit the data was the dominant model, as patients homozygous for the wild-type allele (TT for rs4329505 and CC for rs11265618) showed better remission rates than the other patients; specifically, remission rates (CDAI-LDA) were 73.5% vs. 44.4% (p\u2009=\u20090.039) and the quantitative improvement in DAS28 was 2.9 vs. 2.0 (p\u2009=\u20090.048). No significant differences were found for DAS28 LDA, CDAI improvement, and/or EULAR response rates.\" \"A linked inheritance was observed between rs4329505 and rs11265618, as all individuals carrying the T allele for rs4329505 also had the C allele for rs11265618, and vice versa. \"","sentence":"Genotype CC is associated with increased response to sarilumab in people with Arthritis, Rheumatoid as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5734971","article_title":"Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment","article_path":"articles/PMC5734971.md","variant_annotation_id":1449182316,"variant_haplotypes":"rs17174629","gene":"OPRM1","drugs":"morphine","pmid":29259946,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"No association was observed between this variant and a patient's initial dose requirement or their need to escalate their dose of morphine.","sentence":"Allele G is not associated with dose of morphine in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166371,"variant_haplotypes":"rs2013169","gene":"PURA","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with decreased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4390701","article_title":"Meta-Analysis of the SLCO1B1 c.521T>C Variant Reveals Slight Influence on the Lipid-Lowering Efficacy of Statins","article_path":"articles/PMC4390701.md","variant_annotation_id":1451354760,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"hmg coa reductase inhibitors","pmid":25932441,"phenotype_category":"Efficacy","significance":"no","notes":"Meta analysis did not significant association between the lipid-lowering efficacy of statins and the SLCO1B1 c.521T>C polymorphism. However, the wild genotype improved the lipid-lowering efficacy of simvastatin.","sentence":"Genotypes CC + CT are not associated with decreased response to hmg coa reductase inhibitors as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935745,"variant_haplotypes":"rs1187513719","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the A allele was 57.9% of that of the WT protein. However, this difference was not found to be statistically significant. Variant referred to as 578A>G in the paper.","sentence":"Allele G is associated with decreased clearance of mephenytoin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4909584","article_title":"Genotype-guided tacrolimus dosing in African American kidney transplant recipients","article_path":"articles/PMC4909584.md","variant_annotation_id":1448267244,"variant_haplotypes":"CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"tacrolimus","pmid":26667830,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This study generated an algorithm for predicting tacrolimus daily dose based on tacrolimus typical value of clearance (TVCl/F) that included CYP3A5 alleles *3, *6 and *7. It also found that in subjects with the *1/*3, *1/*6 and *1/*7 genotypes had TVCl/F decreased by 16.2%, 8.2% and 24.1% respectively, and subjects with the *3/*3, *3/*6, *3/*7 or *6/*7 had it decreased by 51%, 36.5%, 54.5% and 44.2% respectively, as compared to the *1/*1 genotype.","sentence":"CYP3A5 *3 + *6 + *7 are associated with decreased clearance of tacrolimus in people with Kidney Transplantation.","alleles":"*3 + *6 + *7","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3248257","article_title":"The population pharmacokinetics of R- and S-warfarin: effect of genetic and clinical factors","article_path":"articles/PMC3248257.md","variant_annotation_id":827863717,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"warfarin","pmid":21692828,"phenotype_category":"Other, Metabolism/PK","significance":"not stated","notes":"For R-Warfarin in a model that included bodyweight, age and CYP2C19 rs3814637.","sentence":"Genotype CT is associated with increased clearance of warfarin as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3797132","article_title":"SLCO1B1 and SLC19A1 Gene Variants and Irinotecan-Induced Rapid Response and Survival: A Prospective Multicenter Pharmacogenetics Study of Metastatic Colorectal Cancer","article_path":"articles/PMC3797132.md","variant_annotation_id":1183697523,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"capecitabine, fluorouracil, irinotecan, leucovorin","pmid":24143213,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was presented as an A>G nucleotide change. Patients were split into two groups based on treatment. One group received irinotecan, fluorouracil, and leucovorin, and the other group received irinotecan and capecitabine. Patients with the GG genotype showed significantly greater rapid response rate as compared to patients carrying the A allele. In addition, when combined with rs2306283, patients homozygous for the G allele for this SNP and carrying the A allele at rs2306283 had significantly higher rapid response rates than patients with any other combination of genotypes.","sentence":"Genotype CC is associated with increased response to capecitabine, fluorouracil, irinotecan or leucovorin in people with Colorectal Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767330,"variant_haplotypes":"rs1995152","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3698861","article_title":"Association of nicotine metabolite ratio and CYP2A6 genotype with smoking cessation treatment in African-American light smokers","article_path":"articles/PMC3698861.md","variant_annotation_id":1451665780,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*24, CYP2A6*25, CYP2A6*26, CYP2A6*27, CYP2A6*28, CYP2A6*35","gene":"CYP2A6","drugs":"nicotine","pmid":19279561,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2A6 *1/*2 + *1/*4 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35 are associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*9 + *1/*12.","alleles":"*1/*2 + *1/*4 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*9 + *1/*12","comparison_metabolizer_types":null} -{"pmcid":"PMC3175513","article_title":"Influence of genetic, biological and pharmacological factors on warfarin dose in a Southern Brazilian population of European ancestry","article_path":"articles/PMC3175513.md","variant_annotation_id":1184510348,"variant_haplotypes":"rs5896","gene":"F2","drugs":"warfarin","pmid":21320153,"phenotype_category":"Dosage","significance":"no","notes":"in a Southern Brazilian population of European ancestry. This F2 variant is not associated independently with warfarin dose. However, when it was included in the multiple linear regression (after controlling for covariates), statistically significant results were obtained.","sentence":"Genotype TT is associated with decreased dose of warfarin as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161580,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"(S)-methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No details about which specific variants/alleles were tested for, however the authors state that genotyping of *1/*6 individuals did not exclude the possibility of them actually being *4/*9.","sentence":"CYP2B6 *6/*6 is associated with increased concentrations of (S)-methadone in people with Opioid-Related Disorders as compared to CYP2B6 *1/*1.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436760,"variant_haplotypes":"rs396991","gene":"FCGR3A","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3912955","article_title":"Polymorphism of the complement receptor 1 gene correlates with the hematologic response to eculizumab in patients with paroxysmal nocturnal hemoglobinuria","article_path":"articles/PMC3912955.md","variant_annotation_id":1184512020,"variant_haplotypes":"rs2230199","gene":"C3","drugs":"eculizumab","pmid":24038027,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as no red blood cell transfusion at any time after the first 6 months on eculizumab treatment (patients had a median follow-up of 52 months, range of 11-98 months). In the paper, GG = Slow/Slow.","sentence":"Genotypes CC + CG is not associated with response to eculizumab in people with paroxysmal nocturnal hemoglobinuria as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:paroxysmal nocturnal hemoglobinuria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11677811","article_title":"Pharmacogenetics of Neoadjuvant MAP Chemotherapy in Localized Osteosarcoma: A Study Based on Data from the GEIS-33 Protocol","article_path":"articles/PMC11677811.md","variant_annotation_id":1452809500,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"cisplatin, doxorubicin, methotrexate","pmid":39771563,"phenotype_category":"Efficacy","significance":"no","notes":"\"For ABCC2 rs2273697, 50% of patients with the GG genotype presented poor pathological response, compared to 81.8% of patients with GA or AA genotypes (p = 0.02 in a dominant model).\" \"Multivariate analyses including these two SNPs and age, gender and tumor site as covariates showed significant associations for both genetic variants: ABCC2 rs2273697 (OR 12.3, 95% CI 2.3\u201366.2; p = 0.003) and ERCC2 rs1799793 (OR 9.6, 95% CI 2.1\u201343.2; p = 0.003). However, these associations were not statistically significant after the Bonferroni test.\" \"Pathological response classification was dichotomized into good response (tumor necrosis \u2265 90%) and poor response (tumor necrosis (<90%). \"","sentence":"Genotypes AA + AG is associated with decreased clinical benefit to cisplatin, doxorubicin and methotrexate in people with Osteosarcoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448435381,"variant_haplotypes":"rs212082","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AG + GG are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043687,"variant_haplotypes":"rs2246709","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a man reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are not associated with response to amlodipine in men with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC7086280","article_title":"Effect of ADRA2A gene polymorphisms on the anesthetic and analgesic effects of dexmedetomidine in Chinese Han women with cesarean section","article_path":"articles/PMC7086280.md","variant_annotation_id":1451146199,"variant_haplotypes":"rs1800035","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":32256718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had significantly increased pain thresholds and significantly reduced VAS pain scores post-surgery than women with the CG or GG genotypes. There was no significant difference in pain thresholds between genotype group pre-surgery.","sentence":"Genotypes CG + GG are associated with decreased response to dexmedetomidine in women with Pain, Postoperative as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376560,"variant_haplotypes":"rs6858066","gene":"ADGRL3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4332701","article_title":"Host Genetic Factors and Dendritic Cell Responses Associated with the Outcome of Interferon/Ribavirin Treatment in HIV-1/HCV Co-Infected Individuals","article_path":"articles/PMC4332701.md","variant_annotation_id":1444698141,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":25705565,"phenotype_category":"Efficacy","significance":"not stated","notes":"rs12979860 seems to be a better predictor of treatment outcome than rs4803217 and ss469415590 in HCV/HIV co-infective patients.\"rs12979860 showed a strong association with treatment response with ~60% of individuals with the most favorable genotype CC and only 25% of individuals with the least favorable genotype TT achieving sustained virological response (SVR).\" \"Approximately 33% of the individuals with rs4803217 intermediate genotype GT and only 25% of the individuals with least favorable genotype TT cleared the virus.; Approximately 33% of the individuals with most favorable ss469415590 genotype TT/TT and only 25% of the individuals with least favorable genotype delG/delG cleared the virus\"","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238767,"variant_haplotypes":"rs1315115","gene":"NPAS3","drugs":"risperidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: the allele was reported as C (though this gene is found on the plus chromosomal strand). It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to risperidone in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC1563530","article_title":"Safety of Voriconazole in a Patient with CYP2C9*2/CYP2C9*2 Genotype","article_path":"articles/PMC1563530.md","variant_annotation_id":1446906191,"variant_haplotypes":"CYP2C9*2","gene":"CYP2C9","drugs":"voriconazole","pmid":16940139,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report. One Caucasian patient homozygous for the CYP2C9 *2 allele (i.e. a poor metabolizer) and homozygous for the CYP2C19 wild-type *1 allele. The apparent oral clearance, area under the concentration-time curve from zero hours to infinity (AUC0-inf), volume of distribution and half-life time were \"not different\" (though note that they were not identical) between the patient with the *2/*2 genotype and healthy volunteers from a previous study with the *1/*1 genotype. No statistical analyses were done.","sentence":"CYP2C9 *2/*2 is not associated with concentrations of voriconazole.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104887,"variant_haplotypes":"rs6746030","gene":"SCN9A","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6800829","article_title":"Impact of SLCO1B3 Polymorphisms on Clinical Outcomes in Lung Allograft Recipients Receiving Mycophenolic Acid","article_path":"articles/PMC6800829.md","variant_annotation_id":1451101338,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"azathioprine, mycophenolic acid","pmid":30992538,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and survival post-transplantation or development of acute cellular rejection, lymphocytic bronchiolitis or chronic lung allograft dysfunction (CLAD).","sentence":"Allele G is not associated with response to azathioprine or mycophenolic acid in people with lung transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157212,"variant_haplotypes":"rs1042114","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele G is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446765670,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"yes","notes":"The genotype was associated with decreased clinical benefit but it was not associated with progression free survival, or overall survival, Clinical benefit was defined as either partial response or stable disease. This was more significant when calculated for the haplotype rs1045642 T, rs1128503 T, and rs2032582 T. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with decreased response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5386607","article_title":"Association of the PPP3CA c.249G>A variant with clinical outcomes of tacrolimus-based therapy in kidney transplant recipients","article_path":"articles/PMC5386607.md","variant_annotation_id":1448819433,"variant_haplotypes":"rs3730251","gene":"PPP3CA","drugs":"tacrolimus","pmid":28435308,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"This variant did not influence clinical outcomes of patients receiving tacrolimus, including eGFR, levels of urea, creatinine, glucose, lipids, or blood counts, biopsy-confirmed acute rejection, delayed graft function, renal function, or adverse events. The authors note that those with the CT or TT genotype did have a 3.05-fold increased probability of treatment-induced blood and lymphatic system disorders as compared to the CC genotype, but this result was not maintained after adjusting for body weight and CYP3A5*3 status. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567667,"variant_haplotypes":"rs2260863","gene":"EPHX1","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype CG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5808057","article_title":"No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA","article_path":"articles/PMC5808057.md","variant_annotation_id":1449160225,"variant_haplotypes":"rs2242446","gene":"SLC6A2","drugs":"3,4-methylenedioxymethamphetamine","pmid":29198060,"phenotype_category":"Other","significance":"yes","notes":"The TT genotype was associated with decreased heart rate, but not plasma concentrations , or mean arterial pressure.","sentence":"Genotype TT are associated with decreased response to 3,4-methylenedioxymethamphetamine as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC11011338","article_title":"Impact of STAT6 Variants on the Response to Proton Pump Inhibitors and Comorbidities in Patients with Eosinophilic Esophagitis","article_path":"articles/PMC11011338.md","variant_annotation_id":1452447127,"variant_haplotypes":"rs12368672","gene":"STAT6","drugs":"Proton pump inhibitors","pmid":38612496,"phenotype_category":"Efficacy","significance":"no","notes":"as measured by PEC Reduction and EREFS Score Reduction. Alleles complemented. \"Patients with the STAT6 rs12368672 C/C genotype showed a lower reduction in EREFS score compared to patients with G/C + G/G genotypes (p = 0.011) (Table 5). Furthermore, a higher EREFS score reduction was observed in individuals with ABCB1 rs2032582 T/T+T/G genotypes compared to those with A/A+G/A+G/G genotypes (p = 0.045) (Table 5); none of these differences reached the threshold for statistical significance after the Bonferroni correction for multiple comparisons \"","sentence":"Genotypes CC + CG is associated with increased response to Proton pump inhibitors in people with eosinophilic esophagitis as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:eosinophilic esophagitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4270923","article_title":"G Protein-Coupled Receptor Kinase 5 Gene Polymorphisms Are Associated with Postoperative Atrial Fibrillation Following Coronary Artery Bypass Graft Surgery in Patients Receiving Beta-Blockers","article_path":"articles/PMC4270923.md","variant_annotation_id":1451843527,"variant_haplotypes":"rs3740563","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":25049040,"phenotype_category":"Efficacy","significance":"yes","notes":"Single-nucleotide polymorphisms in 10 candidate genes were tested for association with atrial fibrillation after coronary artery bypass grafting despite perioperative beta blocker therapy. rs3740563 is in strong linkage disequilibrium with rs4752292.","sentence":"Allele A is associated with decreased response to Beta Blocking Agents in people with Coronary Artery Disease as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11003701","article_title":"Escitalopram and sertraline population pharmacokinetic analysis in pediatric patients","article_path":"articles/PMC11003701.md","variant_annotation_id":1452263600,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"sertraline","pmid":37755681,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"No diference in CL/F between; patients who are normal, rapid, and ultrarapid metabolizers; was detected, and so these phenotypes were grouped during model development\" \"We observed; that poor and intermediate metabolizers had on average 65%; and 34% slower CL/F compared to normal, rapid, and ultrarapid metabolizers\"","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with decreased clearance of sertraline in children as compared to CYP2C19 normal metabolizer and ultrarapid metabolizer and rapid metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer and rapid metabolizer"} -{"pmcid":"PMC3910846","article_title":"Population Pharmacokinetic and Pharmacogenetic Analysis of Nevirapine in Hypersensitive and Tolerant HIV-Infected Patients from Malawi","article_path":"articles/PMC3910846.md","variant_annotation_id":1296598965,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":24217698,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Those with the GT and TT genotypes had a 7.6% and a 19.5% reduction in clearance of nevirapine, respectively, as compared to those with the GG genotype. This SNP remained in the multiple SNP analysis model after backwards elimination.","sentence":"Genotypes GT + TT is associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4862932","article_title":"Single Dose, CYP2D6 Genotype-Stratified Pharmacokinetic Study of Atomoxetine in Children with ADHD","article_path":"articles/PMC4862932.md","variant_annotation_id":1447943838,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*4xN, CYP2D6*5, CYP2D6*9, CYP2D6*10, CYP2D6*29, CYP2D6*41","gene":"CYP2D6","drugs":"atomoxetine","pmid":26660002,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"single dose study with an average of 0.43 mg/kg. Children received either 10, 18, 25, 30 or 40 mg atomoxetine.","sentence":"CYP2D6 *4/*4xN + *4/*4 are associated with decreased clearance of atomoxetine in children with Attention Deficit Disorder with Hyperactivity as compared to CYP2D6 *1/*1 + *1/ *2 + *2/*4 + *1/*4 + *1/*3 + *2/*5 + *10/*41 + *9/*29.","alleles":"*4/*4xN + *4/*4","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/ *2 + *2/*4 + *1/*4 + *1/*3 + *2/*5 + *10/*41 + *9/*29","comparison_metabolizer_types":null} -{"pmcid":"PMC2884029","article_title":"The role of organic anion-transporting polypeptides and their common genetic variants in mycophenolic acid pharmacokinetics","article_path":"articles/PMC2884029.md","variant_annotation_id":981477567,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"mycophenolate mofetil","pmid":19890249,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This finding is for patients also treated with cyclosporine.","sentence":"Allele A is not associated with clearance of mycophenolate mofetil in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165359,"variant_haplotypes":"rs712829","gene":"EGFR","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 3 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele T is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6969041","article_title":"Impact of CYP2C19 genotype on sertraline exposure in 1200 Scandinavian patients","article_path":"articles/PMC6969041.md","variant_annotation_id":1450933341,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"sertraline","pmid":31649299,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The harmonized sertraline serum concentrations in CYP2C19 PMs (carriers of 2 no function alleles) was 2.68-fold (p < 0.001, 95% confidence interval [CI] 2.16\u20133.31) higher compared to CYP2C19 NMs (*1/*1). A 3.00-fold (p < 0.001, 95% CI 2.46\u20133.66) higher concentration of N-desmethylsertraline was found in PMs compared to NMs. Compared with NMs, the N-desmethylsertraline-to-sertraline metabolic ratio was 1.26-fold higher in PMs (p = 0.009, 95% CI 1.07\u20131.46). In CYP2C19 PMs, the OR for having one or more TDM measurements above the target concentration range of 250 nM was 8.69 (p < 0.001, 95% CI 3.88\u201319.19). The study detected *2, *3, and *4 as no function alleles but did not report specific diplotypes. The diplotypes used in the annotations are representative.","sentence":"CYP2C19 *2/*2 + *2/*3 (assigned as poor metabolizer phenotype) are associated with decreased metabolism of sertraline as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5233579","article_title":"Metronidazole Metabolism in Neonates and the Interplay Between Ontogeny and Genetic Variation","article_path":"articles/PMC5233579.md","variant_annotation_id":1449576398,"variant_haplotypes":"CYP2A6*1, CYP2A6*17","gene":"CYP2A6","drugs":"metronidazole","pmid":27417511,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Infants with the *1/*17 genotype had similar metronidazole clearance and metabolic ratio values as *1/*1 infants.","sentence":"CYP2A6 *17 is not associated with clearance of metronidazole in infants as compared to CYP2A6 *1.","alleles":"*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in infants","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823764,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"The CYP3A5*3 allele (rs776746 allele C) significantly decreases area under the concentration time curve (AUC) in a multiple variable model for determining nevirapine AUC, also including rs3745274 allele T and age. [stat_test: multiple linear regression]","sentence":"Genotype CC is associated with increased clearance of nevirapine in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3940150","article_title":"Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine","article_path":"articles/PMC3940150.md","variant_annotation_id":1448993523,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz, non-nucleoside reverse transcriptase inhibitors","pmid":22951632,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant was significantly associated with virologic suppression (OR=3.61, 95% CI 1.16-11.22, p trend=0.03) after adjustment for genetic ancestry PCs.","sentence":"Allele T is associated with increased response to efavirenz or non-nucleoside reverse transcriptase inhibitors in women with HIV Infections as compared to genotype GG.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491228,"variant_haplotypes":"rs31244","gene":"SV2C","drugs":"quetiapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype GG is not associated with response to quetiapine in people with Schizophrenia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3068061","article_title":"Thymidylate Synthase Genotype-Directed Neoadjuvant Chemoradiation for Patients With Rectal Adenocarcinoma","article_path":"articles/PMC3068061.md","variant_annotation_id":769165185,"variant_haplotypes":"rs45445694","gene":"C18orf56, TYMS","drugs":"irinotecan","pmid":21205745,"phenotype_category":"Dosage","significance":"no","notes":"Patients with TYMS *2/*2, *2/*3, or *2/*4 (good risk) were treated with standard chemoradiotherapy using infusional FU at 225 mg/m(2)/d. Patients with TYMS *3/*3 or *3/*4 (poor risk) were treated with FU/RT plus weekly intravenous irinotecan at 50 mg/m(2).","sentence":"Genotypes (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)4 is associated with increased dose of irinotecan in people with Rectal Neoplasms as compared to genotypes (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3.","alleles":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3","comparison_metabolizer_types":null} -{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681639,"variant_haplotypes":"rs4795893","gene":"CCL2","drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In low severity schizophrenia patient subgroup","sentence":"Allele G is associated with decreased response to antipsychotics in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438726,"variant_haplotypes":"rs142693425","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5.0E-9.","sentence":"Allele CTT is not associated with clearance of tenofovir in people with HIV Infections as compared to allele del.","alleles":"CTT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703542,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving complete molecular response (CMR) within 12 months. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%. Please note that alleles have been complemented to the plus chromosomal strand, and that this SNP was listed as rs60023214.","sentence":"Genotype GG is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043225,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association was found between changes in cholesterol levels or triglycerides and this SNP.","sentence":"Allele G is not associated with response to pravastatin in children with Hyperlipoproteinemia Type II as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6125540","article_title":"Is It Time for Systematic Voriconazole Pharmacogenomic Investigation for Central Nervous System Aspergillosis?","article_path":"articles/PMC6125540.md","variant_annotation_id":1449732350,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":29967027,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report. A 39-year-old woman developed central nervous system aspergillosis. She was treated with therapeutic drug monitoring-guided voriconazole therapy. Optimal trough concentrations were difficult to reach despite very high doses of voriconazole. Caspofungin was added, and voriconazole dose was increased to 400mg t.i.d. The patient was then found to be heterozygous for the CYP2C19*17 variant. One month after combined and adjusted dose of voriconazole, patient had clinical improvement. Authors state that this CYP2C19 mutation was \"partially responsible for the therapeutic failure of voriconazole\".","sentence":"CYP2C19 *1/*17 is associated with decreased response to voriconazole in people with Mycoses.","alleles":"*1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104980,"variant_haplotypes":"rs222747","gene":"TRPV1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928254,"variant_haplotypes":"rs3813928","gene":"HTR2C","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647563,"variant_haplotypes":"rs13169373","gene":null,"drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele T is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271251,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"yes","notes":"Response defined by changes in the rate of dropout from treatment between genotypes. Authors designate this association as nominally significant as significance was lost following correction for multiple testing.","sentence":"SLC6A4 HTTLPR short form (S allele)/HTTLPR short form (S allele) is associated with decreased response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to SLC6A4 HTTLPR long form (L allele)/HTTLPR long form (L allele) + HTTLPR long form (L allele)/HTTLPR short form (S allele).","alleles":"HTTLPR short form (S allele)/HTTLPR short form (S allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR long form (L allele)/HTTLPR long form (L allele) + HTTLPR long form (L allele)/HTTLPR short form (S allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974300,"variant_haplotypes":"rs2230414","gene":"RASGRP2","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":"alleles complemented.","sentence":"Allele T is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3673300","article_title":"Fixed dose capecitabine is feasible: results from a pharmacokinetic and pharmacogenetic study in metastatic breast cancer","article_path":"articles/PMC3673300.md","variant_annotation_id":1183682299,"variant_haplotypes":"rs1801159","gene":"DPYD","drugs":"capecitabine","pmid":23588952,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant differences in the area under the concentration-time curve from 0 to infinity (AUCinf) were seen between any of the genotypes (CC, CT, TT). Nor were any significant differences seen between these genotypes when considering the capecitabine metabolites 5'-DFCR, 5'-DFUR or 5'FU (5'-fluorouracil). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with metabolism of capecitabine in people with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388206,"variant_haplotypes":"rs6922548","gene":"PPARD","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper)","sentence":"Allele G is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715558,"variant_haplotypes":"rs7668282","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166319,"variant_haplotypes":"rs11553441","gene":"RRP7A","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729160,"variant_haplotypes":"rs3745276","gene":"CYP2B6","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491483,"variant_haplotypes":"rs1458038","gene":"FGF5","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Genotypes CT + TT are not associated with response to atenolol in people with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC8533258","article_title":"Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder","article_path":"articles/PMC8533258.md","variant_annotation_id":1451648921,"variant_haplotypes":"rs2066702","gene":"ADH1B","drugs":"naltrexone","pmid":34680127,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The A allele is also referred to as the ADH1B*3 allele in the paper. Patients carrying the A allele reported more drinking days during naltrexone treatment.","sentence":"Allele A is associated with decreased response to naltrexone in men with Alcoholism as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983239,"variant_haplotypes":"rs672170","gene":"RGS17","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here. Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele A is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7497848","article_title":"Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer","article_path":"articles/PMC7497848.md","variant_annotation_id":1449146811,"variant_haplotypes":"rs2289669","gene":"SLC47A1","drugs":"tipiracil hydrochloride, trifluridine","pmid":28992563,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was tested for association alone and with three other SNPs after univariate and multivariate analysis in a training (N= 52, Japan) and testing cohorts (N = 127, Italy). It was not significant with progression-free or overall survival in either cohorts.","sentence":"Allele A is not associated with response to tipiracil hydrochloride and trifluridine in people with Colorectal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654383,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - n=2 children had the *2/*2 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and *3 as rs1057910.","sentence":"CYP2C9 *2/*2 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*2/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491488,"variant_haplotypes":"rs871606","gene":"CHIC2","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele T is not associated with response to atenolol in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705538,"variant_haplotypes":"rs10853728","gene":null,"drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotype GG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC4854407","article_title":"A Common Susceptibility Gene for Type 2 Diabetes Is Associated with Drug Response to a DPP-4 Inhibitor: Pharmacogenomic Cohort in Okinawa Japan","article_path":"articles/PMC4854407.md","variant_annotation_id":1447987188,"variant_haplotypes":"rs7756992","gene":"CDKAL1","drugs":"Dipeptidyl peptidase 4 (DPP-4) inhibitors","pmid":27139004,"phenotype_category":"Efficacy","significance":"yes","notes":"The SNP was significantly associated with improved response to DPP-4 inhibitors (as assayed by reductions in HbA1c). Most of the patients were on combination anti-diabetic agent (ADA) therapy, but the relationship was only significant for regimens that included DPP-4 (alone or in combination with other ADAs).","sentence":"Allele G is associated with increased response to Dipeptidyl peptidase 4 (DPP-4) inhibitors in people with Diabetes Mellitus as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450931998,"variant_haplotypes":"rs1323040","gene":"OPRM1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the GG genotype had significantly increased sufentanil consumption compared to patients with the AA or AG genotypes, while those with the AG genotype had significantly increased compared to patients with the AA genotype.","sentence":"Genotypes AG + GG are associated with increased dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677286,"variant_haplotypes":"rs2289105","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole alone or with lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides of 36.45 mg/dL (SE 7.8).","sentence":"Allele C is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003393,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: AG+AA (0.41 (0.12\u201341.63)) vs. GG (0.46 (0.09\u201310.88)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes AA + AG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747049,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*31, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *31 is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*31","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113820,"variant_haplotypes":"rs495491","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6891932","article_title":"Effects of SLCO1B1 polymorphisms on plasma estrogen concentrations in women with breast cancer receiving aromatase inhibitors exemestane and letrozole","article_path":"articles/PMC6891932.md","variant_annotation_id":1450934903,"variant_haplotypes":"rs10841753","gene":"SLCO1B1","drugs":"estrone sulfate","pmid":31190621,"phenotype_category":"Efficacy","significance":"yes","notes":"when treated with aromatase inhibitors. Authors describe association for number of \"variant allele\" compared to \"wild type\" and in figure 2 show \"wild type\" as TT. \"Each rs10841753 variant allele was associated with a decreased risk of failing to achieve undetectable E1S concentrations after 3 months of AI therapy however, there was no significant effect on E1 or E2\" stratified analysis showed was confined to the exemestane arm not letrozole arm.","sentence":"Allele C is associated with decreased concentrations of estrone sulfate in women with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10995391","article_title":"Effect of NAT2, GSTM1 and CYP2E1 genetic polymorphisms on plasma concentration of isoniazid and its metabolites in patients with tuberculosis, and the assessment of exposure-response relationships","article_path":"articles/PMC10995391.md","variant_annotation_id":1452443280,"variant_haplotypes":"rs6413432","gene":"CYP2E1","drugs":"isoniazid","pmid":38584604,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Similarly, pharmacokinetic parameters were compared between; patient groups divided according to the presence/absence of the each; CYP2E1 SNPs. Overall, only rs6413432 claimed a statistically significant difference for three INH pharmacokinetic parameters:; INH AUC0\u20136h, values were significantly higher, while median values; of both AcINH/INH MR and INA/INH MR were significantly lower; in patients with rs6413432 (Table 4).\"","sentence":"Allele A is associated with increased concentrations of isoniazid in people with Tuberculosis as compared to allele T (assigned as intermediate acetylator phenotype) .","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":"intermediate acetylator"} -{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296671,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"in both European Americans and African Americans. The dose reduction per variant allele was comparable among European Americans (34.6% vs 34.4%, interaction P value=0.98) vs. African Americans.","sentence":"CYP2C9 *1/*3 + *3/*3 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4701680","article_title":"Associations between Serotonergic Genes and Escitalopram Treatment Responses in Patients with Depressive Disorder and Acute Coronary Syndrome: The EsDEPACS Study","article_path":"articles/PMC4701680.md","variant_annotation_id":1452053764,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"escitalopram","pmid":26766959,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in remission (HAMD) in patients receiving escitalopram.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to escitalopram in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC2922203","article_title":"A novel CYP2A6 allele (CYP2A6*35) resulting in an amino acid substitution (Asn438Tyr) is associated with lower CYP2A6 activity in vivo","article_path":"articles/PMC2922203.md","variant_annotation_id":1451666180,"variant_haplotypes":"CYP2A6*1, CYP2A6*9, CYP2A6*17, CYP2A6*35","gene":"CYP2A6","drugs":"nicotine","pmid":19365400,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2A6 *1/*35 + *9/*35 + *17/*35 are associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*1.","alleles":"*1/*35 + *9/*35 + *17/*35","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162739,"variant_haplotypes":"rs1800896","gene":"IL10","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175517,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"no","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele C is not associated with clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695435,"variant_haplotypes":"rs6277","gene":"DRD2","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis. Please note: alleles have been complemented to the + strand.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10787143","article_title":"Impact of CYP2D6 and CYP2B6 phenotypes on the response to tramadol in patients with acute post\u2010surgical pain","article_path":"articles/PMC10787143.md","variant_annotation_id":1452347581,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"o-desmethyltramadol","pmid":38140786,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP2D6 IMs+PMs showed significantly lower M130 and M1120 levels than NMs+UMs (univariate p<0.001 and p<0.001; multivariate p<0.001 and p=0.002, unstandardized \u03b2 coefficient=-13.40, -14.21, respectively); the association between M1120 levels and CYP2D6 phenotype reached the statistical threshold for significance after the Bonferroni correction for multiple comparisons (i.e., 0.05/3 factors, i.e., sex, pain rescue treatment and CYP2D6 phenotype=0.017).\"","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer is associated with decreased concentrations of o-desmethyltramadol in people with Pain, Postoperative as compared to CYP2D6 normal metabolizer and ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} -{"pmcid":"PMC10931982","article_title":"Comprehensive Assessment of CFTR Modulators\u2019 Therapeutic Efficiency for N1303K Variant","article_path":"articles/PMC10931982.md","variant_annotation_id":1452416527,"variant_haplotypes":"rs80034486","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":38474016,"phenotype_category":"Efficacy","significance":"not stated","notes":"\"In our patient, FEV1 was improved by 4.7% (from 84.1% to 88.8% predicted) after a 3-month treatment.; After 3 months of ETI therapy, the BMI increased by 0.6 kg/m2 (body weight gain was 2.0 kg).\" \"For the first time, a comprehensive study was conducted on an example of one patient with the N1303K/class I genotype to examine the ETI effect on the restoration of CFTR function using ex vivo (ICM), in vitro (patient\u2019s intestinal organoids) and assessment of clinical parameters before and three months after treatment with ETI. All obtained results are consistent with each other and have proven the effectiveness of ETI for the N1303K variant.\"","sentence":"Genotype CG is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560369,"variant_haplotypes":"rs7668258","gene":"UGT2B7","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376553,"variant_haplotypes":"rs1868790","gene":"ADGRL3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"yes","notes":"For the genetic component, in the CGI-S model, a recessive effects for ADGRL3 rs1868790 was found, which was associated with significant impairment. Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS). Note the article only states the association of AA in a recessive model without referring to the compared allele. dbSNP references the rsID as T>G and T>A change.","sentence":"Genotype AA is associated with decreased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AT + TT.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613418,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"Allele T is not associated with metabolism of selumetinib in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3521860","article_title":"Modifying Role of Serotonergic 5-HTTLPR & TPH2 Variants on Disulfiram Treatment of Cocaine Addiction: A Preliminary Study","article_path":"articles/PMC3521860.md","variant_annotation_id":1452010640,"variant_haplotypes":"SLC6A4 HTTLPR short form (S allele), SLC6A4 L allele-rs25531C, SLC6A4 L allele-rs25531T","gene":"SLC6A4","drugs":"disulfiram","pmid":22925276,"phenotype_category":"Efficacy","significance":"yes","notes":"There was no difference between disulfiram treatment and placebo for the L allele-rs25531T homozygotes (described in paper as L'L'). Authors grouped L allele-rs25531C with S allele and reported as S' (low serotonin transporter) \"During the initial two-week baseline period, the mean rate of cocaine positive urines differed between the S\u2032S\u2032/L\u2032S\u2032 and L\u2032L\u2032 genotype groups (t=2.218, p = 0.0304; 78% versus 92%)\"","sentence":"SLC6A4 HTTLPR short form (S allele) / HTTLPR short form (S allele) + HTTLPR short form (S allele) / L allele-rs25531C + L allele-rs25531C / L allele-rs25531C (assigned as low activity phenotype) is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to SLC6A4 L allele-rs25531T / L allele-rs25531T (assigned as high activity phenotype) .","alleles":"HTTLPR short form (S allele) / HTTLPR short form (S allele) + HTTLPR short form (S allele) / L allele-rs25531C + L allele-rs25531C / L allele-rs25531C","specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"L allele-rs25531T / L allele-rs25531T","comparison_metabolizer_types":"high activity"} -{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374142,"variant_haplotypes":"CYP2D6 poor and ultrarapid metabolizers","gene":"CYP2D6","drugs":"(R)-methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and ultrarapid metabolizer are not associated with concentrations of (R)-methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} diff --git a/data/benchmark/train.jsonl b/data/benchmark/train.jsonl deleted file mode 100644 index 701a776..0000000 --- a/data/benchmark/train.jsonl +++ /dev/null @@ -1,3612 +0,0 @@ -{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449192282,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype CT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491471,"variant_haplotypes":"rs3211371","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in plasma concentrations of efavirenz (units = mg/L) were seen between the two genotypes. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment. p-value from univariate analysis with plasma concentration as the dependent variable.","sentence":"Genotype CC is not associated with clearance of efavirenz in people with HIV Infections as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4270923","article_title":"G Protein-Coupled Receptor Kinase 5 Gene Polymorphisms Are Associated with Postoperative Atrial Fibrillation Following Coronary Artery Bypass Graft Surgery in Patients Receiving Beta-Blockers","article_path":"articles/PMC4270923.md","variant_annotation_id":1451843520,"variant_haplotypes":"rs10787959","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":25049040,"phenotype_category":"Efficacy","significance":"yes","notes":"Single-nucleotide polymorphisms in 10 candidate genes were tested for association with atrial fibrillation after coronary artery bypass grafting despite perioperative beta blocker therapy.","sentence":"Allele A is associated with decreased response to Beta Blocking Agents in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4557249","article_title":"Association of serotonin transporter (SLC6A4) & receptor (5HTR1A, 5HTR2A) polymorphisms with response to treatment with escitalopram in patients with major depressive disorder: A preliminary study","article_path":"articles/PMC4557249.md","variant_annotation_id":1452040220,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"escitalopram","pmid":26261165,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to escitalopram Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC4220464","article_title":"Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins","article_path":"articles/PMC4220464.md","variant_annotation_id":1184997431,"variant_haplotypes":"rs646776","gene":"CELSR2","drugs":"hmg coa reductase inhibitors","pmid":25350695,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of this SNP respond to statins with an additional 1.5% increase per allele in LDL-C lowering effect compared with non-carriers.","sentence":"Allele C is associated with increased response to hmg coa reductase inhibitors as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4730664","article_title":"The role of CYP3A5 polymorphism and dose adjustments following conversion of twice-daily to once-daily tacrolimus in renal transplant recipients","article_path":"articles/PMC4730664.md","variant_annotation_id":1447946747,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26823971,"phenotype_category":"Dosage","significance":"yes","notes":"Patients converting from tacrolimus 2X daily (BID) to once daily (OD). A greater percentage of patients with the *1/*1 or *1/*3 genotype required some increase in dose following conversion as compared to those with the *3/*3 genotype (69% vs 47%). Additionally, the mean dose increase for those with the *1/*1 or *1/*3 genotype was higher as compared to those with the *3/*3 genotype (45.3% vs 26.6%).","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC11531276","article_title":"Pharmacogenomic Study of Selected Genes Affecting Amlodipine Blood Pressure Response in Patients with Hypertension","article_path":"articles/PMC11531276.md","variant_annotation_id":1452697461,"variant_haplotypes":"rs2239050","gene":"CACNA1C","drugs":"amlodipine","pmid":39492848,"phenotype_category":"Efficacy","significance":"yes","notes":"\"A strong association between amlodipine response and the SNP rs2239050/CACNA1C was observed in the study participants. Participants carrying the GG genotype had better response/outcomes (P=0.004) when treated with amlodipine than carriers of CC or CG genotypes. After adjusting for confounding factors (age, sex, drug and diet compliance, etc)., no observable changes were noticed in the degree, level, or magnitude of the association. \"","sentence":"Genotype GG is associated with increased clinical benefit to amlodipine in people with Hypertension as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC6313513","article_title":"Impact of Promoter Polymorphisms on the Transcriptional Regulation of the Organic Cation Transporter OCT1 (SLC22A1)","article_path":"articles/PMC6313513.md","variant_annotation_id":1452509920,"variant_haplotypes":"rs6935207","gene":"SLC22A1","drugs":"metformin","pmid":30544975,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of metformin in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680170,"variant_haplotypes":"rs295137","gene":"SPATS2L","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"no","notes":"GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation. This was assessed as a replication attempt for a previously reported association of a different SPATS2L SNP with response to bronchodilators. Bonferroni correction was performed according to the number of SNPs included that are within 50 kb up and downstream of SPATS2L.","sentence":"Allele C is not associated with response to salbutamol in children with Asthma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3248257","article_title":"The population pharmacokinetics of R- and S-warfarin: effect of genetic and clinical factors","article_path":"articles/PMC3248257.md","variant_annotation_id":827863693,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":21692828,"phenotype_category":"Other, Metabolism/PK","significance":"not stated","notes":"For S-Warfarin in a model that included bodyweight, age and sex.","sentence":"CYP2C9 *3 is associated with decreased clearance of warfarin as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4693492","article_title":"Personalizing initial calcineurin inhibitor dosing by adjusting to donor CYP3A\u2010status in liver transplant patients","article_path":"articles/PMC4693492.md","variant_annotation_id":1446899553,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"cyclosporine, tacrolimus","pmid":26271661,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"The genotype refers to the genotype of the donor liver. Patients who were recipients of a liver transplantation from a donor with the CC genotype AND low or intermediate CYP3A4 mRNA levels needed a significantly decreased dose of cyclosporine or tacrolimus as compared to patients who whose liver donors had the rs776746 CC genotype AND high CYP3A4 mRNA levels, or rs776746 CT/TT genotypes regardless of CYP3A4 mRNA levels.","sentence":"Genotype CC is associated with decreased dose of cyclosporine or tacrolimus in people with liver transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682467,"variant_haplotypes":"rs1801690","gene":"APOH","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele C is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634307,"variant_haplotypes":"rs13223171","gene":"CNTNAP2","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"Significance was not attained. Observations: 2.89 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA, 1.12 mm Hg decreased reduction of systolic blood pressure per T allele in NORDIL, and 1.59 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479744,"variant_haplotypes":"rs11631682","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5904201","article_title":"Influence of APOA5 Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects","article_path":"articles/PMC5904201.md","variant_annotation_id":1449311045,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"atorvastatin, rosuvastatin, simvastatin","pmid":29695967,"phenotype_category":"Other","significance":"yes","notes":"The correlation between APoB concentration and LDL cholesterol before and after treatment changed only slightly for the AG+GG genotypes (before rho = 0.55 p <0.001; after rho = 0.50 p<0.001) but decreased significantly for the AA genotype (before rho = 0.78 p<0.001; after rho 0.44 p<0.001) showing that the absolute reduction of ApoB was much smaller than the statin-induced reduction of LDLc. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with response to atorvastatin, rosuvastatin and simvastatin in people with Dyslipidaemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Dyslipidaemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9974434","article_title":"The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia","article_path":"articles/PMC9974434.md","variant_annotation_id":1452035440,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5, NUDT15*6","gene":"NUDT15","drugs":"mercaptopurine","pmid":36873097,"phenotype_category":"Dosage","significance":"yes","notes":"Median 6-MP adjusted dose (mg/m2/day) for IM was 48.7 and NM was 64.3","sentence":"NUDT15 *1/*2 + *1/*3 + *1/*5 + *1/*6 (assigned as intermediate metabolizer phenotype) is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3 + *1/*5 + *1/*6","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7308427","article_title":"Polymorphisms of SLC19A1 80 G>A, MTHFR 677 C>T, and Tandem TS Repeats Influence Pharmacokinetics, Acute Liver Toxicity, and Vomiting in Children With Acute Lymphoblastic Leukemia Treated With High Doses of Methotrexate","article_path":"articles/PMC7308427.md","variant_annotation_id":1451552723,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":32612964,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"SNP is referred to in the paper as 677 C>T and was mapped to rs1801133 by PharmGKB. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AG + GG are associated with increased steady-state concentration of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":827784977,"variant_haplotypes":"rs2071427","gene":"NR1D1, THRA","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":"The authors describe this as a nominal association which did not survive correction for multiple testing.","sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2888980","article_title":"A Candidate Gene Analysis of Methylphenidate Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC2888980.md","variant_annotation_id":1450376375,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":19858760,"phenotype_category":"Efficacy","significance":"no","notes":"Scales used to assess response: ADHD-RS-IV, SWAN, and Permanent product Measure of Performance (PERMP). A trend of effect was detected for the COMT variant. significance = p<0.025","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2364178","article_title":"Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene","article_path":"articles/PMC2364178.md","variant_annotation_id":1450950560,"variant_haplotypes":"rs3918290","gene":"DPYD","drugs":"fluorouracil","pmid":11953843,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"5-fluorouracil activity and DPD activity were compared between one patient with severe fluorouracil-induced toxicity and six control patients with normal 5-fluorouracil-related symptoms. All patients were being treated for colorectal cancer. The index patient was a 60-year-old white female who experienced leukopenia, thrombocytopenia, nausea, diarrhea, stomatitis, fever, hair loss. The control patients experienced mild nausea, vomiting, or grade 1 stomatitis. The clearance was 520 ml/min in the index patient vs 980-1780 mg/min in controls. The area under the curve from 0-3 hours in the index patient was 24.1 mgh/l vs 15.3 mgh/l as the highest value in controls. Sequence analysis revealed the index patient was heterozygous for the *2A (IVS14+1G>A) mutation. Sequence analysis of the six control patients revealed no mutations.","sentence":"Genotype CT is associated with decreased clearance of fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452437087,"variant_haplotypes":"rs7570090","gene":"RPE","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6E-7.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2042718","article_title":"A novel mutant variant of the CYP2D6 gene (CYP2D6 17) common in a black African population: association with diminished debrisoquine hydroxylase activity","article_path":"articles/PMC2042718.md","variant_annotation_id":1447990805,"variant_haplotypes":"CYP2D6*1, CYP2D6*2","gene":"CYP2D6","drugs":"debrisoquine","pmid":8971426,"phenotype_category":"Metabolism/PK","significance":"no","notes":"MR of both diplotypes were similar, *1/*1(n=12) =0.56 and *1/*2 (n=13)=0.59.","sentence":"CYP2D6 *1/*2 is not associated with decreased metabolism of debrisoquine in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2888980","article_title":"A Candidate Gene Analysis of Methylphenidate Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC2888980.md","variant_annotation_id":1450376338,"variant_haplotypes":"rs5569","gene":"SLC6A2","drugs":"methylphenidate","pmid":19858760,"phenotype_category":"Efficacy","significance":"no","notes":"Scales used to assess response: ADHD-RS-IV, SWAN, and Permanent productMeasure of Performance (PERMP).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374111,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"(R)-methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significance was lost following multivariate analysis.","sentence":"Genotypes GT + TT are associated with increased concentrations of (R)-methadone in people with Opioid-Related Disorders as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2675161","article_title":"The Pharmacokinetics and Pharmacogenomics of Efavirenz and Lopinavir/Ritonavir in HIV-Infected Persons Requiring Hemodialysis","article_path":"articles/PMC2675161.md","variant_annotation_id":1448997679,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":18784455,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046476,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"When stratified by race, this association was only significant in the Asian population, not in the Caucasian population.","sentence":"Genotype GG is associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4500328","article_title":"Physiologically based pharmacokinetic model for 6-mercpatopurine: exploring the role of genetic polymorphism in TPMT enzyme activity","article_path":"articles/PMC4500328.md","variant_annotation_id":1444695511,"variant_haplotypes":"TPMT poor metabolizer","gene":"TPMT","drugs":"mercaptopurine","pmid":25614061,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The PK model predicted plasma and tissue concentrations of mercaptopurine and its metabolites, including 6-thioguanine nucleotide, which is responsible for its activity and toxicity, with the use of various factors, including TPMT phenotypes.","sentence":"TPMT poor metabolizer is associated with increased concentrations of mercaptopurine as compared to TPMT normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038082,"variant_haplotypes":"rs2854116","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677231,"variant_haplotypes":"rs1062033","gene":"CYP19A1","drugs":"hdl cholesterol","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole and lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with increases in HDL-cholesterol of 6.9 mg/dL (SE 1.5).","sentence":"Allele G is associated with increased concentrations of hdl cholesterol in women with Breast Neoplasms and Menopause as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043670,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a patient reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to amlodipine in people with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3633658","article_title":"Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration (AMD) in the Comparison of AMD Treatments Trials (CATT)","article_path":"articles/PMC3633658.md","variant_annotation_id":1183491546,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"bevacizumab, ranibizumab","pmid":23337555,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in mean visual acuity (units = letters), mean visual acuity change from baseline (units = letters), >= 15-letter increase from baseline (%), mean number of injections, retinal thickness (%, units = um), mean change in total foveal thickness from baseline (units = um), dry on optical coherence tomography (%), leakage on fluorescein angiography (%) or mean change in lesion size from baseline (units = disc area) after 1 year of treatment were seen between genotypes. p <= 0.01 was considered statistically significant to adjust for multiple comparisons.","sentence":"Genotype CC is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104838,"variant_haplotypes":"rs4354668","gene":"SLC1A2","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele G is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449716020,"variant_haplotypes":"rs268214","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5074472","article_title":"Pharmacokinetics of Bupropion and Its Pharmacologically Active Metabolites in Pregnancy","article_path":"articles/PMC5074472.md","variant_annotation_id":1448257516,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":27528039,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The AUC of steady state was compared.","sentence":"CYP2B6 *6 is associated with increased steady-state concentration of bupropion in women with Pregnancy as compared to CYP2B6 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451727971,"variant_haplotypes":"rs17847029","gene":"CYP2C9","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotype CT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6448146","article_title":"Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users","article_path":"articles/PMC6448146.md","variant_annotation_id":1450375853,"variant_haplotypes":"rs2461817","gene":"NR1I2","drugs":"etonogestrel","pmid":30870275,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"Corrected P-value cutoff of 5.0E-4 was not met.","sentence":"Allele C is associated with increased steady-state concentration of etonogestrel in women as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4612590","article_title":"Pharmacogenetic Pathway Analysis of Docetaxel Elimination","article_path":"articles/PMC4612590.md","variant_annotation_id":1448107849,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"docetaxel","pmid":18509327,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The T allele corresponds with CYP3A5*1. The presence of the CYP3A5*1A allele was associated with a 49% (P = 0.020) increase in docetaxel clearance.","sentence":"Allele T is associated with increased clearance of docetaxel in people with Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678311,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In none of the measures that the authors used to measure exposure showed any association with the genotype. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype CC is not associated with metabolism of carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3769669","article_title":"A published pharmacogenetic algorithm was poorly predictive of tacrolimus clearance in an independent cohort of renal transplant recipients","article_path":"articles/PMC3769669.md","variant_annotation_id":1183699984,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":23305195,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Genotype *1/*3 vs *3/*3 was reported. Clearance was estimated using the dose-normalized whole-blood trough concentration. The DeKAF algorithm was tested but it failed to predict tacrolimus clearance in this cohort.","sentence":"CYP3A5 *1/*3 is associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4928097","article_title":"Association of HLA-DRB1 Haplotypes With Rheumatoid Arthritis Severity, Mortality, and Treatment Response","article_path":"articles/PMC4928097.md","variant_annotation_id":1451934500,"variant_haplotypes":"HLA-DRB1*04:01","gene":"HLA-DRB1","drugs":"adalimumab, etanercept, infliximab","pmid":25919528,"phenotype_category":"Efficacy","significance":"yes","notes":"Valine at position 11 (VKA haplotype is *04:01 based on table 1 in 22286218 with His at position 13 - position 13 not considered in this publication) was associated with better European League Against Rheumatism (EULAR) response to TNF inhibitor therapy (OR, 1.23 [95% CI, 1.06- 1.43]) 0.007.","sentence":"HLA-DRB1 *04:01 is associated with increased response to adalimumab, etanercept or infliximab in people with Arthritis, Rheumatoid.","alleles":"*04:01","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470380,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele T is associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729346,"variant_haplotypes":"rs28371759","gene":"CYP3A4","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotype AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1451155365,"variant_haplotypes":"rs10929302","gene":"UGT1A1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01. rs10929302 is reported as UGT1A1*93 (UGT1A1 *93/*93 is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1 + *1/*93).","sentence":"Genotype AA is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10967865","article_title":"Impact of Pharmacogenetic Testing on Clozapine Treatment Efficacy in Patients with Treatment-Resistant Schizophrenia","article_path":"articles/PMC10967865.md","variant_annotation_id":1452852980,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"clozapine","pmid":38540209,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"A significant difference in pharmacokinetic parameters was associated with the polymorphism of CYP1A2 gene encoding the main enzyme related to the metabolism of CLZ. Patient smokers (>7 cigarettes/day) with the *1F/*1F genotype for the CYP1A2 gene had significant differences according to CLZ plasma levels and C/D CLZ (p = 0.029 and p = 0.034, respectively) versus *1/*1F and *1/*1 genotypes. Patients with *1F/*1F (n = 49) showed lower values with significant differences between the smoker (n = 20) and non-smoker (n = 29) population according to CLZ dose, C/D total, C/D CLZ, and C/D NCLZ (p = 0.002, p = 0.035, p = 0.046, and p = 0.032, respectively).\" Annotation done on rs762551 (-163C>A). PharmVar released an updated CYP1A2 nomenclature 12/2024. At this point, -163 C>A was included in 26 core alleles with *30 being the SNP by itself. The 25 other core alleles include the -163 C>A SNP in addition to amino acid changes.","sentence":"Genotype AA is associated with decreased exposure to clozapine in people with Schizophrenia and Tobacco Use Disorder as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3657889","article_title":"Cytochrome P450 (CYP2C9*2,*3) & vitamin-K epoxide reductase complex (VKORC1 -1639G20 mg/wk (P=0.014).","sentence":"CYP2C9 *3 is associated with decreased dose of acenocoumarol as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703722,"variant_haplotypes":"rs9590353","gene":"UGGT2","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele G is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5980466","article_title":"Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation","article_path":"articles/PMC5980466.md","variant_annotation_id":1449191990,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"apixaban","pmid":29457840,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes AA + AG are not associated with clearance of apixaban in people with Atrial Fibrillation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4631184","article_title":"In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles","article_path":"articles/PMC4631184.md","variant_annotation_id":1444711202,"variant_haplotypes":"CYP2D6 intermediate metabolizers","gene":"CYP2D6","drugs":"endoxifen","pmid":25907378,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The patients of the cohort (83% White, 15% Black) were genotype with AmpliChip CYP450 test. The variations used to define the star alleles are not reported. The diplotypes of the patients are not reported. The alleles found in the cohort are not explicit reported but graphic 3 shows *1, *2, *35, *9, *10, *17, *29, and *41. The study included UMs and PM but no CYP2D6 star allele is reported for those phenotypes. *1, *2, *35 are grouped as active alleles and any combination of these defines the extensive metabolizer. *9, *10, *17, *29, and *41 are grouped as reduced function alleles. The article subgroups the IMs into EM/IM, EM/PM, IM/IM, IM/PM.","sentence":"CYP2D6 intermediate metabolizer is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815024,"variant_haplotypes":"rs2636719","gene":"PPA2","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of G alleles present in a patient was positively associated with CGI-S score. Please note that this variant is in high linkage disequilibrium with rs2636697.","sentence":"Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376581,"variant_haplotypes":"rs5569","gene":"SLC6A2","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613426,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"Allele T is not associated with metabolism of selumetinib in healthy individuals as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821794,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"efavirenz","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CC + CT are not associated with concentrations of efavirenz in children with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928296,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6612579","article_title":"Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome\u2010Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2","article_path":"articles/PMC6612579.md","variant_annotation_id":1450807049,"variant_haplotypes":"rs28845026","gene":null,"drugs":"anastrozole","pmid":30648747,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The minor allele of this variant was associated with increased plasma concentrations of anastrozole in postmenopausal women with ER+ breast cancer.","sentence":"Allele T is associated with increased concentrations of anastrozole in women with Breast Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376612,"variant_haplotypes":"rs6551665","gene":"ADGRL3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166088,"variant_haplotypes":"rs4902333","gene":"CHURC1","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161642,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in methadone dose between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are not associated with dose of methadone in people with Opioid-Related Disorders as compared to CYP2C9 *1/*1 + *1/*2.","alleles":"*1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557998,"variant_haplotypes":"rs5836788","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele del is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171382,"variant_haplotypes":"CYP3A7*1A, CYP3A7*1C","gene":"CYP3A7","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW).","sentence":"CYP3A7 *1A/*1A is associated with decreased concentrations of tacrolimus in children with Kidney Transplantation as compared to CYP3A7 *1A/*1C + *1C/*1C.","alleles":"*1A/*1A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1A/*1C + *1C/*1C","comparison_metabolizer_types":null} -{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448489015,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The *22 allele was associated with a 54% greater exemestane concentration, and remained significant after adjustment for covariates.","sentence":"CYP3A4 *1/*22 is associated with increased concentrations of exemestane in women with Breast Neoplasms as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10967865","article_title":"Impact of Pharmacogenetic Testing on Clozapine Treatment Efficacy in Patients with Treatment-Resistant Schizophrenia","article_path":"articles/PMC10967865.md","variant_annotation_id":1452852900,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"clozapine","pmid":38540209,"phenotype_category":"Efficacy","significance":"yes","notes":"CYP1A2 *1F/*1F is associated with decreased clinical benefit to clozapine in people with Schizophrenia. \"CYP1A2 rs7625521 also demonstrated a significant association with the Brief Negative Symptom Scale (BNSS) expression factor subscale (p = 0.007) between *1F and *1 allele. Patients with the *1F/*1F genotype were associated with a significant worsening of expression factor subscale (p = 0.037). No association with BNSS overall score, BNSS Motivation and Pleasure Factor score, PANSS-positive score, Wellbeing (SWEMWBS) score, or Genal functioning (GAF) score.\" \"...impaired emotional expressivity is more prominently observed in patients carrying the *1F/*1F genotype as compared to patients with at least one wild type allele for CYP1A2 (*1 allele), potentially associated with a reduction in metabolism, leading to a poorer response.\" The quote has a typo that is in the paper, the correct rs number should be rs762551. Annotation done on rs762551 (-163C>A). PharmVar released an updated CYP1A2 nomenclature 12/2024. At this point, -163 C>A was included in 26 core alleles with *30 being the SNP by itself. The 25 other core alleles include the -163 C>A SNP in addition to amino acid changes.","sentence":"Genotype AA is associated with decreased clinical benefit to clozapine in people with Schizophrenia as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6179259","article_title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","article_path":"articles/PMC6179259.md","variant_annotation_id":1449748103,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"atorvastatin, simvastatin","pmid":30304062,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotype GG is associated with decreased response to atorvastatin or simvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864092,"variant_haplotypes":"rs1801058","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"no","notes":"Note; TT (V486) homozygotes were excluded. Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotype CT is not associated with decreased response to metoprolol in men with hypertensive nephrosclerosis as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11512548","article_title":"Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation","article_path":"articles/PMC11512548.md","variant_annotation_id":1452689000,"variant_haplotypes":"rs7483","gene":"GSTM3","drugs":"tacrolimus","pmid":39465171,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. This was seen only for donor not recipient: For donor \"Tac C/D ratios of donor GSTM3 rs7483 AA genotype were 231.0 \u00b1 164.9, 127.3 \u00b1 73.6, 120.4 \u00b1 82.4 and 116.1 \u00b1 71.1 at weeks 1, 2, 3 and 4 respectively. For AG and GG genotype carriers, the corresponding Tac C/D ratios at each time point were 328.2 \u00b1 243.6, 195.1 \u00b1 146.6, 213.4 \u00b1 219.6 and 235.20 \u00b1 180.3. The differences were significant (p = 0.035, 0.010, 0.035, 0.002, respectively).\"","sentence":"Genotype TT is associated with decreased concentrations of tacrolimus in people with Liver transplantation as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10085626","article_title":"Novel and replicated clinical and genetic risk factors for toxicity from high-dose methotrexate in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC10085626.md","variant_annotation_id":1452008029,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"methotrexate","pmid":36764694,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"The G allele of rs2306283, which causes a missense mutation in SLCO1B1, demonstrated a; decreased risk for prolonged clearance\"","sentence":"Allele G is associated with increased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2830602","article_title":"The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men","article_path":"articles/PMC2830602.md","variant_annotation_id":1451114672,"variant_haplotypes":"rs11045819","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":20078617,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and trough concentrations of lopinavir or ritonavir in HIV patients treated with lopinavir/ritonavir. Variant referred to in the paper as 463C>A.","sentence":"Allele A is not associated with trough concentration of lopinavir or ritonavir in men with HIV Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4171106","article_title":"Genetic Variants in Transcription Factors Are Associated With the Pharmacokinetics and Pharmacodynamics of Metformin","article_path":"articles/PMC4171106.md","variant_annotation_id":1444668331,"variant_haplotypes":"rs784888","gene":"SP1","drugs":"metformin","pmid":24853734,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele G is associated with decreased clearance of metformin in healthy individuals as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4541974","article_title":"Impact of CYP2C19 polymorphism on the pharmacokinetics of nelfinavir in patients with pancreatic cancer","article_path":"articles/PMC4541974.md","variant_annotation_id":1444698605,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"nelfinavir","pmid":25752914,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"All patients were genotyped for CYP2C19 by RFLP analysis. Female and male patients were initially administered 750 or 900 mg/m2 gemcitabine IV over 30 min, 50 mg/m2 leucovorin IV over 30 min, and 2700 mg/m2 5-FU IV over 24 hours on day 1 weekly for 2 of 3 weeks for three cycles (day 1-63). Oral nelfinavir was given at 625 mg or 1250 mg twice daily for 3 weeks starting 2 weeks prior to initiation of radiation (days 56-75). 625 mg is better tolerated and preferred by patients. 1250 mg is the standard dose of nelfinavir when used to treat HIV patients. Differences in Cmax (mean) between genotype groups was only seen in the 1250 mg dose and not in the 650 mg dose. The AUC (0-12), terminal half-life, total body clearance (CLT/F) and apparent volume of distribution of nelfinavir (VD/F)did not significantly different between CYP2C19 genotype group.","sentence":"CYP2C19 *1/*2 is associated with increased concentrations of nelfinavir in people with Pancreatic Neoplasms as compared to CYP2C19 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10529681","article_title":"Pharmacogenetics and Pharmacokinetics of Tamoxifen in a Zimbabwean breast cancer cohort","article_path":"articles/PMC10529681.md","variant_annotation_id":1452139860,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"endoxifen","pmid":37337448,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The common phenotype; group was that of the normal metabolizers (NM), which was 67.5%. However, intermediate; metabolizers (IMs) had quite a significant frequency of 27.5%, while the frequency of; ultrarapid metabolizers (UMs) was 5%. There were no CYP2D6 poor metabolizers in this; study.\" Authors used CPIC phenotype classifications. \"55.0% were post-menopausal women\" \"All the recruited; participants were female except 1 who was male.\" \"Most of the breast cancer patients had a late diagnosis with at least; stage 3A breast cancer at diagnosis (64.9%)\"","sentence":"CYP2D6 intermediate metabolizer is associated with decreased concentrations of endoxifen in people with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710945,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"4-hydroxytamoxifen, endoxifen, N-desmethyltamoxifen, tamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood.","sentence":"CYP2C9 *3 is not associated with concentrations of 4-hydroxytamoxifen, endoxifen, n-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10951231","article_title":"Individualized atomoxetine response and tolerability in children with ADHD receiving different dosage regimens: the need for CYP2D6 genotyping and therapeutic drug monitoring to dance together","article_path":"articles/PMC10951231.md","variant_annotation_id":1452428860,"variant_haplotypes":"CYP2D6*10","gene":"CYP2D6","drugs":"atomoxetine","pmid":38504095,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP2D6 IMs exhibited significantly higher atomoxetine C/D values than EMs under the three dosing regimens\" The regimens were qm (once morning), bid (twice daily) and qn (once nightly). Study measured CYP2D6*2, CYP2D6*10, and CYP2D6*14 and grouped *10/*10 as intermediate. There was only one PM that was excluded from analysis.","sentence":"CYP2D6 *10/*10 (assigned as intermediate metabolizer phenotype) is associated with increased exposure to atomoxetine in children with Attention Deficit Disorder with Hyperactivity as compared to CYP2D6 normal metabolizer.","alleles":"*10/*10","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678780,"variant_haplotypes":"rs17179108","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). The CT genotype was associated with improved DFS, but not OS.","sentence":"Genotype CT is associated with increased response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046688,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype CC is not associated with increased dose of phenprocoumon as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479862,"variant_haplotypes":"rs17161981","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10557961","article_title":"Influence of CYP450 Enzymes and ABCB1 Polymorphisms on Clopidogrel Response in Moroccan Patients with Acute Coronary Syndromes","article_path":"articles/PMC10557961.md","variant_annotation_id":1452272060,"variant_haplotypes":"CYP2C19 normal metabolizer","gene":"CYP2C19","drugs":"clopidogrel","pmid":37810546,"phenotype_category":"Efficacy","significance":"no","notes":"\"Patients were subdivided into clopidogrel responder (PRU\u2264208) and clopidogrel non-responder group (PRU>208), 19 patients (34.55%) were clopidogrel non-responders, whereas 36 patients (65.45%) were clopidogrel responders. \" \"The tested alleles CYP2C9*3, Cyp2C19*2, Cyp2C19*3, CYP3A4*22, and CYP3A5*2 were not found in our study population\"","sentence":"CYP2C19 normal metabolizer is not associated with increased response to clopidogrel in people with Acute coronary syndrome as compared to CYP2C19 rapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute coronary syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid metabolizer"} -{"pmcid":"PMC11758033","article_title":"Sodium channel mutation SCN1A T875M, D188V and associated dysfunction with drug resistant epilepsy","article_path":"articles/PMC11758033.md","variant_annotation_id":1452856366,"variant_haplotypes":"rs121917953","gene":"SCN1A","drugs":"antiepileptics","pmid":39974498,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The AT genotype exhibited significantly higher risk association with drug resistance with an odds ratio of 3.51 (95%CI = 1.256-3.826 and a P value = 0.017; Table 3).\" AA also had increased risk but not significant. grouped p value not shown. Drug regimens not specified","sentence":"Genotypes AA + AT is associated with increased resistance to antiepileptics in people with Epilepsy as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452437097,"variant_haplotypes":"rs7841320","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6E-7.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370787,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"CYP2C9 *3 is not associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2652833","article_title":"A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose","article_path":"articles/PMC2652833.md","variant_annotation_id":827641885,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":19300499,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310602,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele T is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407809,"variant_haplotypes":"rs16918875","gene":"OPRK1","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele A is not associated with response to butorphanol in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448496262,"variant_haplotypes":"rs10012","gene":"CYP1B1","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CG are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3621996","article_title":"Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy","article_path":"articles/PMC3621996.md","variant_annotation_id":1183682419,"variant_haplotypes":"rs80338792","gene":"SCN4A","drugs":"flecainide","pmid":23052413,"phenotype_category":"Efficacy","significance":"not stated","notes":"This case study showed two patients (mother and son) who both had the same genetic variant (presented in the paper as SCN4A G1306E) causing myotonia permanens. After years of poor response to mexiletine, patients were switched to flecainide and saw huge improvements. This suggests that patients with this myotonia permanens causing variation may benefit more from treatment with flecainide than mexilitine.","sentence":"Allele T is associated with increased response to flecainide in people with Myotonia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Myotonia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11475898","article_title":"Early CYP3A5 Genotype-Based Adjustment of Tacrolimus Dosage Reduces Risk of De Novo Donor-Specific HLA Antibodies and Rejection among CYP3A5-Expressing Renal Transplant Patients","article_path":"articles/PMC11475898.md","variant_annotation_id":1452648018,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":39410605,"phenotype_category":"Dosage","significance":"yes","notes":"\"However, CYP3A5 expressers required tacrolimus dosages 2-fold higher during follow-up and exhibited significantly lower C/D ratios than did nonexpressers. We detected no significant differences between expressers and nonexpressers in the incidence of delayed graft function, rejection, CNI nephrotoxicity, and development of de novo anti-HLA antibodies and de novo DSAs after the follow-up period of 2 years. Renal allograft function was also well preserved in both groups during follow-up.\" Only *3 was measured.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113980,"variant_haplotypes":"rs9322447","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038126,"variant_haplotypes":"rs11216158","gene":"APOA1","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AA + AG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983326,"variant_haplotypes":"rs2299267","gene":"PON2","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (G). Response considered to be successful with a 50% reduction at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele G is associated with decreased response to antidepressants in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2830602","article_title":"The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men","article_path":"articles/PMC2830602.md","variant_annotation_id":1451114660,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"ritonavir","pmid":20078617,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and trough concentrations of ritonavir in HIV patients treated with lopinavir/ritonavir. Variant referred to in the paper as 521T>C.","sentence":"Allele C is not associated with trough concentration of ritonavir in men with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104967,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907717,"variant_haplotypes":"rs13059232","gene":"NR1I2","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP had a small effect on cyclophosphamide (CPA) metabolite plasma concentrations (4-OH-CPA), but did not reach significance (Bonferroni corrected p-value= 0.0056).","sentence":"Allele C is not associated with metabolism of cyclophosphamide in people with as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3476140","article_title":"Association study between clinical response to rizatriptan and some candidate genes","article_path":"articles/PMC3476140.md","variant_annotation_id":1452551194,"variant_haplotypes":"rs1799732","gene":"DRD2","drugs":"rizatriptan","pmid":17563839,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders to rizatriptan. Variant referred to in the paper as DRD2-BstNI and mapped to rs1799732 by PharmGKB.","sentence":"Allele G is not associated with response to rizatriptan in people with Migraine without Aura as compared to allele del.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC11418302","article_title":"CYP2C19 genotype and sodium channel blockers in lacosamide-treated children with epilepsy: two major determinants of trough lacosamide concentration or clinical response","article_path":"articles/PMC11418302.md","variant_annotation_id":1452616160,"variant_haplotypes":"CYP2C19 normal metabolizer","gene":"CYP2C19","drugs":"lacosamide","pmid":39314259,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with the NM phenotype exhibited lower drug exposure levels when compared to the IM and PM groups (\u03b2\u2009=\u2009\u22120.189, p\u2009<\u20090.001; Table 2). This pattern held true in the add-on therapy group as well, with NM individuals displaying lower exposure levels than IM and PM groups (\u03b2\u2009=\u2009\u22120.374, p\u2009<\u20090.001; Table 3).\"","sentence":"CYP2C19 normal metabolizer is associated with decreased exposure to lacosamide in children with Epilepsy as compared to CYP2C19 intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} -{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678633,"variant_haplotypes":"rs1710","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"no","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). Neither were significantly associated with any genotype.","sentence":"Genotype GG is not associated with response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC10532907","article_title":"Pharmacogenetic Variants Associated with Fluoxetine Pharmacokinetics from a Bioequivalence Study in Healthy Subjects","article_path":"articles/PMC10532907.md","variant_annotation_id":1452260760,"variant_haplotypes":"rs1065852","gene":"CYP2D6","drugs":"fluoxetine","pmid":37763120,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The CYP2D6*10 haplotype, related to decreased CYP2D6 function (poor drug metabolism), was found in only one volunteer (subject 25), based on CYP2D6 rs1065852 (haplotype A/A) and rs11358490 (haplotype C/C). As shown in Table 2, t1/2 was three times higher (106.9 h) for this subject than the overall mean (31.02 h). AUCs and t1/2 were statistically different between genotypes of CYP2D6 rs1065852 (p < 0.001). Stratification of subjects based on CYP2D6 genotypes confirmed the difference in the PK profiles, based on the three SNVs found in this study (rs1065852, rs1135840, and rs28371703)\"","sentence":"Allele A is associated with increased half-life time of fluoxetine in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5505550","article_title":"Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9","article_path":"articles/PMC5505550.md","variant_annotation_id":1448820083,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"piroxicam","pmid":28740425,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.","sentence":"Allele T is not associated with response to piroxicam as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3978988","article_title":"Lack of association between plasma levels of non-nucleoside reverse transcriptase inhibitors & virological outcomes during rifampicin co-administration in HIV-infected TB patients","article_path":"articles/PMC3978988.md","variant_annotation_id":1448993476,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":24521642,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased concentrations of efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183633740,"variant_haplotypes":"rs2432742","gene":"CSMD3","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend in results but significance was not attained. Observations: 2.52 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA, 0.07 mm Hg decreased reduction of diastolic blood pressure per A allele in NORDIL (small, opposite direction effect), and 1.57 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele A is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359269,"variant_haplotypes":"rs5320","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele A is not associated with response to heroin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3985268","article_title":"Variation in P450 oxidoreductase (POR) A503V and flavin containing monooxygenase (FMO)-3 E158K is associated with minor alterations in nicotine metabolism but does not alter cigarette consumption","article_path":"articles/PMC3985268.md","variant_annotation_id":1183703328,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"nicotine","pmid":24448396,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Participants received 4 mg oral nicotine. 3HC/COT was measured.","sentence":"Genotypes CT + TT is associated with increased metabolism of nicotine in CYP2A6 normal, but not reduced, metabolizers as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in","population_phenotypes_or_diseases":"PK:CYP2A6 normal, but not reduced, metabolizers","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4585967","article_title":"Pharmacogenetics of Complement Factor H Y402H Polymorphism and Treatment of Neovascular AMD with Anti-VEGF Agents: A Meta-Analysis","article_path":"articles/PMC4585967.md","variant_annotation_id":1446902514,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"bevacizumab, ranibizumab","pmid":26411831,"phenotype_category":"Efficacy","significance":"yes","notes":"Neovascular age-related macular degeneration. Meta-analysis with 13 studies. Anti-VEGF treatment was much less effective in patients with the CC genotype as compared to those with the CT or TT genotype. Significant results were also seen when considering exclusively Caucasians, though no significant results were seen when considering exclusively East Asians. 10 of the 13 studies defined a positive outcome from anti-VEGF therapy as improvement in visual function (visual acuity), while the remaining three define it as an improvement in retinal morphology (resolution of macular edema). A sub-analysis was done on studies only considering response as improvement in visual acuity, with significant results.","sentence":"Genotype CC is associated with decreased response to bevacizumab and ranibizumab in people with Macular Degeneration as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2683977","article_title":"Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin","article_path":"articles/PMC2683977.md","variant_annotation_id":827602228,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":18305455,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9*3 was associated with a; 33% (95% confidence interval 29\u00bf37%) decrement in warfarin dose per allele.","sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2921956","article_title":"Identification of novel CYP2A6*1B variants; the CYP2A6*1B allele is associated with faster in vivo nicotine metabolism","article_path":"articles/PMC2921956.md","variant_annotation_id":827705096,"variant_haplotypes":"CYP2A6*1, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":17522595,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Includes alleles *1B1-*1B15. Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar.","sentence":"CYP2A6 *46/*46 is associated with increased clearance of nicotine as compared to CYP2A6 *1/*1.","alleles":"*46/*46","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4551162","article_title":"Prognostic role of the LCS6 KRAS variant in locally advanced rectal cancer: results of the EXPERT-C trial","article_path":"articles/PMC4551162.md","variant_annotation_id":1446908428,"variant_haplotypes":"rs61764370","gene":"KRAS","drugs":"capecitabine, cetuximab, oxaliplatin","pmid":26162609,"phenotype_category":"Efficacy","significance":"yes","notes":"C allele carriers (there were no homozygotes) had a statistically significantly higher rate of complete response (CR) after neoadjuvant therapy and a trend for better 5-year progression-free survival (PFS) and overall survival. Both CR and survival outcomes were independent of the use of cetuximab. Patients received neoadjuvant CAPOX followed by chemoradiotherapy, surgery and adjuvant CAPOX plus or minus cetuximab","sentence":"Genotype AC is associated with increased response to capecitabine, cetuximab and oxaliplatin in people with Rectal Neoplasms as compared to genotype AA.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6033076","article_title":"Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics","article_path":"articles/PMC6033076.md","variant_annotation_id":1449576530,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"montelukast","pmid":28940478,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This allele is associated with reduced area under the plasma concentration-time curve (AUC) of montelukast (11.3% reduction per copy of each allele, P=0.00659).","sentence":"CYP2C8 *3 is associated with decreased concentrations of montelukast in healthy individuals as compared to CYP2C8 *1/*1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5949564","article_title":"NUDT15 R139C Variants Increase the Risk of Azathioprine-Induced Leukopenia in Chinese Autoimmune Patients","article_path":"articles/PMC5949564.md","variant_annotation_id":1449750688,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"thioguanine","pmid":29867468,"phenotype_category":"Metabolism/PK","significance":"no","notes":"after treatment with azathioprine and 6-TGN was not significantly different between patients with leukopenia or the controls.","sentence":"Allele T is not associated with concentrations of thioguanine in people with Autoimmune Diseases, Lupus Erythematosus, Systemic or Sjogren's Syndrome as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autoimmune Diseases, Disease:Systemic lupus erythematosus, Disease:Sjogren's Syndrome","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713624,"variant_haplotypes":"rs2284922","gene":"RNF8","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"yes","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is associated with increased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10852661","article_title":"Effect of APOE and CHRNA7 Genotypes on the Cognitive Response to Cholinesterase Inhibitor Treatment at Different Stages of Alzheimer\u2019s Disease","article_path":"articles/PMC10852661.md","variant_annotation_id":1450973700,"variant_haplotypes":"rs429358","gene":"APOE","drugs":"donepezil, galantamine, rivastigmine","pmid":24951635,"phenotype_category":"Efficacy","significance":"yes","notes":"In patients with moderate to severe Alzheimer's disease only (baseline Mini-Mental State Examination (MMSE) score < 20); in patients with mild Alzheimer's (MMSE >=20) no significant/borderline significant results were seen (p=0.05). Adjusted for gender, age, and baseline MMSE. After 6 months of treatment with cholinesterase inhibitors, those with the E4 allele were more likely to be a non-responder to treatment, as compared to those without the E4 allele. A responder was defined as a patient who showed improvement or no deterioration in cognition comparing MMSE scores at baseline with MMSE scores after 6 months.","sentence":"Genotypes CC + CT is associated with decreased response to donepezil, galantamine and rivastigmine in people with Alzheimer Disease as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3433845","article_title":"Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success","article_path":"articles/PMC3433845.md","variant_annotation_id":827921983,"variant_haplotypes":"rs680244","gene":"CHRNA5","drugs":"Drugs used in nicotine dependence","pmid":22648373,"phenotype_category":"Other","significance":"yes","notes":"in haplotype analysis; individuals with haplotype 3 (rs16969968 allele A - rs680244 allele C) were more likely to respond to active treatment/ had a lower risk of relapse (ability to quit smoking as measured by time to relapse to smoking over 60 days) than those with haplotype 3 that were treated with placebo. The ability to quit cigarette smoking were not significantly different in individuals with haplotype 1 (rs16969968 allele G - rs680244 allele C) that underwent active treatment compared to placebo (p=0.36).","sentence":"Allele C is associated with increased response to Drugs used in nicotine dependence in people with Tobacco Use Disorder.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3476140","article_title":"Association study between clinical response to rizatriptan and some candidate genes","article_path":"articles/PMC3476140.md","variant_annotation_id":1452551140,"variant_haplotypes":"rs6275","gene":"DRD2","drugs":"rizatriptan","pmid":17563839,"phenotype_category":"Efficacy","significance":"yes","notes":"The AA and AG genotypes were significantly more frequent in patients classed as non-responders to rizatriptan. Please note that alleles have been complemented to the positive strand. Variant referred to in the paper as DRD2 NcoI and mapped to rs6275 by PharmGKB.","sentence":"Genotypes AA + AG are associated with decreased response to rizatriptan in people with Migraine without Aura as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3230303","article_title":"A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation","article_path":"articles/PMC3230303.md","variant_annotation_id":981755678,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":22047557,"phenotype_category":"Efficacy","significance":"not stated","notes":"A clinical trial that selected patients with the G551D CFTR mutation (rs75527207 genotype AA or AG). Patients without this mutation were excluded. One patient included in the placebo group was homozygous for F508del (rs113993960 genotype del/del).","sentence":"Genotypes AA + AG are associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6171340","article_title":"Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy","article_path":"articles/PMC6171340.md","variant_annotation_id":1451134380,"variant_haplotypes":"rs2753325","gene":"CACNA1H","drugs":"lamotrigine","pmid":28165634,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by minor allele frequency in not\u2013seizure\u2010free vs seizure-free children. Authors do not specify which allele is minor allele but state \"Two synonymous CACNA1H variants, located essentially next to each other (rs2753326 and rs2753325), were associated with greater seizure freedom in the lamotrigine group. Both have global minor allele frequency reported as 0.29 compared to 0.36 in the lamotrigine cohort.\" This does not seem to match with frequencies in Table 2. Assumed minor allele as same as dbSNP which was A and major allele as G.","sentence":"Allele A is associated with increased clinical benefit to lamotrigine in children with Epilepsy as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Efficacy:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2922203","article_title":"A novel CYP2A6 allele (CYP2A6*35) resulting in an amino acid substitution (Asn438Tyr) is associated with lower CYP2A6 activity in vivo","article_path":"articles/PMC2922203.md","variant_annotation_id":1451666225,"variant_haplotypes":"CYP2A6*1, CYP2A6*35","gene":"CYP2A6","drugs":"nicotine","pmid":19365400,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":null,"sentence":"CYP2A6 *35/*35 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*1.","alleles":"*35/*35","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5807179","article_title":"Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences","article_path":"articles/PMC5807179.md","variant_annotation_id":1448996513,"variant_haplotypes":"rs185430475","gene":"ZNF536","drugs":"nicotine","pmid":28921760,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Nicotine metabolism was assessed by measuring participants' nicotine metabolite ratio.","sentence":"Allele G is not associated with metabolism of nicotine as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6486881","article_title":"Replication of the pharmacogenetic effect of rs678849 on buprenorphine efficacy in African-Americans with opioid use disorder","article_path":"articles/PMC6486881.md","variant_annotation_id":1449753059,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"buprenorphine","pmid":30368523,"phenotype_category":"Efficacy","significance":"yes","notes":"Replication of the association first detailed in PMID 23612435. Efficacy was determined by the number of opioid-positive urine screens recorded during treatment.","sentence":"Genotype CC is associated with decreased response to buprenorphine in people with Opioid-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4282597","article_title":"Pharmacogenetic associations of the type-3 metabotropic glutamate receptor (GRM3) gene with working memory and clinical symptom response to antipsychotics in first-episode schizophrenia","article_path":"articles/PMC4282597.md","variant_annotation_id":1446908024,"variant_haplotypes":"rs6465084","gene":"GRM3","drugs":"antipsychotics","pmid":25096017,"phenotype_category":"Toxicity","significance":"yes","notes":"Those with the AA genotype had reduced negative symptom severity (according to Brief Psychiatric Rating Scale (BPRS) negative symptoms subscale) as compared to those with the AG or GG genotype (who had minimal change or worsening in negative symptoms). Significant after correction for multiple comparisons.","sentence":"Genotype AA is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3805522","article_title":"Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines","article_path":"articles/PMC3805522.md","variant_annotation_id":1184471941,"variant_haplotypes":"rs3918290","gene":"DPYD","drugs":"capecitabine, fluorouracil","pmid":24167597,"phenotype_category":"Dosage","significance":"yes","notes":"Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. \"Dose\" here refers to dose modification. Note: the reported parameters for this SNP are really for a haplotype (the authors refer to it as a \"signature\") that includes any minor alleles for the following SNPs: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T).","sentence":"Genotype CT is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567961,"variant_haplotypes":"CYP3A5*1, CYP3A5*6","gene":"CYP3A5","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in log-transformed dose-adjusted trough concentrations (C/D) was seen between the two genotype groups.","sentence":"CYP3A5 *1/*1 is not associated with dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*6 + *6/*6.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*6 + *6/*6","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356800,"variant_haplotypes":"rs8904","gene":"NFKBIA","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5871545","article_title":"Variants in the CYP2B6 3\u2032UTR alter in vitro and in vivo CYP2B6 activity: potential role of microRNAs","article_path":"articles/PMC5871545.md","variant_annotation_id":1448997596,"variant_haplotypes":"rs3181842","gene":"CYP2B6","drugs":"efavirenz","pmid":28960269,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For rs3181842, an increase in CYP2B6 activity was observed between volunteers with T/T versus T/C (31.9% increase; p<0.05) and C/C genotypes (70.6% increase; p<0.0001)\".","sentence":"Genotypes CC + CT are associated with increased metabolism of efavirenz in healthy individuals as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695451,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis. Please note: alleles are complemented to the + chromosomal strand.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631790,"variant_haplotypes":"rs272893","gene":"SLC22A4","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele T is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680069,"variant_haplotypes":"rs77149876","gene":null,"drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype CT is associated with increased response to salbutamol in children with Asthma as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826625,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"no","notes":"Analysis of the total cohort found no significant difference in number of cigarettes smoked per day between genotype groups.","sentence":"Genotypes AG + GG are not associated with exposure to nicotine in people with Bipolar Disorder or Schizophrenia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678268,"variant_haplotypes":"rs2234922","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors evaluated maintenance dose-adjusted concentrations of carbamazepine (CBZ), its active metabolite, CBZ-epoxide (CBZE), and its inactive metabolite CBZ-diol (CBZD) as well as CBZE:CBZ, CBZD:CBZ and CBZD:CBZE ratios. The GG genotype is associated with a lower mean dose adj. CBZD concentration (microgram/mL per mg/Kg) (0.13 for the GG genotype vs. 0.21-0.24 for the AG and GG genotypes, respectively). The GG genotype also had a lower mean CBZD:CBZ (0.13 for GG vs. 0.24-0.26 for the AG and AA genotypes, respectively). Finally, the GG genotype was associated with a lower mean CBZD:CBZE (1.74 for GG vs. 3.95-3.08 for AG and AA, respectively).","sentence":"Genotype GG is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4575538","article_title":"Effects of CYP2B6 and CYP1A2 Genetic Variation on Nevirapine Plasma Concentration and Pharmacodynamics as Measured by CD4 Cell Count in Zimbabwean HIV-Infected Patients","article_path":"articles/PMC4575538.md","variant_annotation_id":1448110402,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":26348712,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Nevirapine was given as part of HAART therapy.","sentence":"Genotype TT is associated with increased concentrations of nevirapine in people with HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558039,"variant_haplotypes":"rs6506569","gene":"PTPRM","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680746,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479840,"variant_haplotypes":"rs12535293","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4731723","article_title":"TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis","article_path":"articles/PMC4731723.md","variant_annotation_id":1447982682,"variant_haplotypes":"rs5743890","gene":"TOLLIP","drugs":"acetylcysteine","pmid":26331942,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical endpoints included death, transplant, hospitalization, or FVC decline, and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center. Alleles given on reverse strand A and G.","sentence":"Genotype TT is not associated with response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pulmonary Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121080,"variant_haplotypes":"rs6848893","gene":null,"drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test.","sentence":"Genotype CT is not associated with response to oxycodone as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407482,"variant_haplotypes":"rs702764","gene":"OPRK1","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele C is not associated with response to morphine in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4473094","article_title":"Impact of polymorphisms of the GGCX gene on maintenance warfarin dose in Chinese populations: Systematic review and meta-analysis","article_path":"articles/PMC4473094.md","variant_annotation_id":1444936331,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"warfarin","pmid":26106580,"phenotype_category":"Dosage","significance":"no","notes":"This meta-analysis in Chinese patients showed no difference in mean daily warfarin dose (MDWD) for various genotypes of GGCX variant rs12714145.","sentence":"Allele T is not associated with dose of warfarin as compared to genotype CC.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470287,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"cyclosporine","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A single steady-state concentration of cyclosporine was collected for each patient 2-7 wks post-transplant and compared to dose of cyclosporine administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of cyclosporine. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele A is associated with decreased metabolism of cyclosporine in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4522133","article_title":"Limited predictive value of achieving beneficial plasma (Z)-endoxifen threshold level by CYP2D6 genotyping in tamoxifen-treated Polish women with breast cancer","article_path":"articles/PMC4522133.md","variant_annotation_id":1448261019,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*17, CYP2D6*41","gene":"CYP2D6","drugs":"endoxifen","pmid":26232141,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Pre- and post menopausal patients received 20 mg/day tamoxifen for at least 1 month (median duration 21.5 month). DNA source was blood and CYP2D6 was genotyped with TaqMan allelic discrimination assays. PM (non-functional) alleles include: CYP2D6*3, *4, *5, *6, *7; IM (reduced function) alleles include: CYP2D6*9, *10, *17, *41; EM (wt; fully functional) alleles include CYP2D6*1 and *2; UM (increased function) alleles include: duplication of EM variants of the gene, such as CYP2D6*1XN and *2XN. Patients were assigned a CYP2D6 genotype depending on the combination of alleles they carry, as PM/PM, IM/PM, IM/IM, EM/PM, EM/IM, EM/EM or EM/UM.","sentence":"CYP2D6 *4/*41 + *4/*10 + *4/*17 + *5/*41 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*2 + *1/*1 + *2/*2.","alleles":"*4/*41 + *4/*10 + *4/*17 + *5/*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*1 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC3941038","article_title":"Pharmacogenomics of selective serotonin reuptake inhibitor treatment for major depressive disorder: genome-wide associations and functional genomics","article_path":"articles/PMC3941038.md","variant_annotation_id":981344263,"variant_haplotypes":"rs11144870","gene":"RFK","drugs":"citalopram, escitalopram","pmid":22907730,"phenotype_category":"Efficacy","significance":"no","notes":"No SNP reached the genome-wide level of significance (P<10-7), although this variant was shown in functional molecular experiments to influence transcription by a reporter gene assay and to alter nuclear protein binding using an electrophoretic mobility shift assay.","sentence":"Allele T is associated with decreased response to citalopram or escitalopram in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896135,"variant_haplotypes":"rs73069924","gene":"MTMR12","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10582663","article_title":"Tacrolimus pharmacokinetics are influenced by CYP3A5, age, and concomitant fluconazole in pediatric kidney transplant patients","article_path":"articles/PMC10582663.md","variant_annotation_id":1452140160,"variant_haplotypes":"CYP3A5 intermediate metabolizer and normal metabolizer","gene":"CYP3A5","drugs":"tacrolimus","pmid":37340713,"phenotype_category":"Dosage","significance":"yes","notes":"\"For CYP3A5, *1 (the normal function allele), *3, *6, *7, and *8 alleles were detected. Patients were then classified into two phenotypic categories of CYP3A5 IM/NMs, or CYP3A5 PMs as defined in the CPIC guidelines\"","sentence":"CYP3A5 intermediate metabolizer and normal metabolizer is associated with increased dose of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 poor metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC9934922","article_title":"Impact of polymorphisms in CYP and UGT enzymes and ABC and SLCO1B1 transporters on the pharmacokinetics and safety of desvenlafaxine","article_path":"articles/PMC9934922.md","variant_annotation_id":1452023720,"variant_haplotypes":"UGT1A1 poor metabolizer","gene":"UGT1A1","drugs":"desvenlafaxine","pmid":36817149,"phenotype_category":"Metabolism/PK","significance":"no","notes":"as measured by increased Tmax. Authors state \"UGT1A1 rs887829 (*80) was used as a surrogate biomarker for *28.\" but do not explicitly state how that is is used to define PM, IM or NM. \"However, none of these associations; remained significant after Bonferroni correction for multiple; comparisons. \"","sentence":"UGT1A1 poor metabolizer is associated with increased exposure to desvenlafaxine in healthy individuals as compared to UGT1A1 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC3100585","article_title":"Induction of CYP3A4 by Vinblastine: Role of the Nuclear Receptor NR1I2","article_path":"articles/PMC3100585.md","variant_annotation_id":827811153,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"midazolam","pmid":20959500,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"It's not clear exactly what genotype comparison was done. Subjects were treated with vinblastine/valspodar. [stat_test: nonparametric 2-sided Wilcoxon signed-rank]","sentence":"Allele A is not associated with increased clearance of midazolam in people with Carcinoma, Renal Cell as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4631185","article_title":"Effect of carboxylesterase 1 c.428G\u2009>\u2009A single nucleotide variation on the pharmacokinetics of quinapril and enalapril","article_path":"articles/PMC4631185.md","variant_annotation_id":1446899459,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"enalapril","pmid":25919042,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a fixed-order crossover study with two phases: following overnight fasting participants took a 10 mg dose of quinapril and, after a washout period of at least 1 week, a 10 mg dose of enalapril with 150 ml water in the morning and EDTA-prepared blood samples were drawn before and up to 24 hr, and up to 48 h after ingestion for the determination of the concentrations of quinapril and its metabolite quinaprilat, as well as enalapril and its metabolite enalaprilat. Urine was collected up to 12 h after quinapril and enalapril. Only AUC (0-infinity) and amount excreted in urine of enalaprilat were significantly different between genotype groups. Other PK parameters that were tested and not significantly different were Cmax, Tmax, T(1/2), and renal clearance.","sentence":"Genotype CT is not associated with clearance of enalapril in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5908896","article_title":"Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC5908896.md","variant_annotation_id":1449557385,"variant_haplotypes":"rs3767344","gene":"RXRG","drugs":"irinotecan","pmid":29706892,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with metabolism of irinotecan in people with Colorectal Neoplasms as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566667,"variant_haplotypes":"rs1229985","gene":"ADH1B","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele G is associated with metabolism of ethanol.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433685,"variant_haplotypes":"rs322144","gene":"TSPAN16","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele C is associated with decreased clinical benefit to apremilast in people with Psoriasis as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9841299","article_title":"Impact of NFIB and CYP1A variants on clozapine serum concentration\u2014A retrospective naturalistic cohort study on 526 patients with known smoking habits","article_path":"articles/PMC9841299.md","variant_annotation_id":1451893960,"variant_haplotypes":"rs28379954","gene":"NFIB","drugs":"clozapine","pmid":36152308,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes","sentence":"Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine in people with Tobacco Use Disorder as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5003027","article_title":"TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics","article_path":"articles/PMC5003027.md","variant_annotation_id":1447979364,"variant_haplotypes":"rs11947402","gene":"TSPAN5","drugs":"citalopram, escitalopram","pmid":26903268,"phenotype_category":"Efficacy","significance":"no","notes":"This is one of SNP showed some association with plasma serotonin concentrations and was suspected to be associated with SSRI clinical response. When tested in the PGRN-AMPS GWAS and in two independent SSRI response GWAS (STAR*D and ISPC) it was not associated with response in any cohort.","sentence":"Allele G is not associated with response to citalopram and escitalopram in people with Depressive Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359265,"variant_haplotypes":"rs129915","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele G is not associated with response to heroin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814198,"variant_haplotypes":"rs77107237","gene":null,"drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. The SNP was associated with a ~39 ng/ml increase in plasma/serum cotinine and accounted for 0.87% variance in cotinine levels.","sentence":"Allele G is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10566653","article_title":"Correlation of pain perception and fentanyl consumption after major abdominal surgery with CGRP 4218T/C polymorphism: A prospective interventional study","article_path":"articles/PMC10566653.md","variant_annotation_id":1452273340,"variant_haplotypes":"rs145837941","gene":"CALCA","drugs":"fentanyl","pmid":37829781,"phenotype_category":"Dosage","significance":"yes","notes":"Mapped CGRP 4218T/C to rs145837941 in the CALCA gene using PMID:23237777. Alleles complemented. Was significant for all the timepoints (0-6, 6-12, 12-24 and total).\"In the paired comparison of C/C versus T/C and C/C versus T/T, the C/C group had a significantly higher requirement of mean total postoperative fentanyl in the first 24 h than T/T (P < 0.001) and T/C (P < 0.001). \"","sentence":"Genotype GG is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4503374","article_title":"Individual and combined associations of genetic variants in CYP3A4, CYP3A5, and SLCO1B1 with simvastatin and simvastatin acid plasma concentrations","article_path":"articles/PMC4503374.md","variant_annotation_id":1446896996,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"simvastatin","pmid":26164721,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients were followed for 6 weeks (40 mg simvastatin at bedtime) and seen at the clinic at 2 week intervals. Patients with the *1/*22 diplotype had 58% higher plasma simvastatin concentration at 12 hours, respectively, as compared to those with the *1/*1 diplotypes.; In a separate analysis, the authors combined patients into groups based on their expected simvastatin acid/ simvastatin ratios (SVA/SV). The groups were low, intermediate, or high. The low and medium SVA/SV group included patients with the *1/*22 diplotype. There was a significant difference in 12 hr plasma SVA/SV ratios between the low, intermediate, and high SVA/SV ratio genotype groups.","sentence":"CYP3A4 *1/*22 is associated with increased concentrations of simvastatin in people with Hypercholesterolemia as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3016221","article_title":"Genetic variants in the KIF6 region and coronary event reduction from statin therapy","article_path":"articles/PMC3016221.md","variant_annotation_id":981482193,"variant_haplotypes":"rs9471077","gene":"KIF6","drugs":"atorvastatin, pravastatin","pmid":20886236,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased response to atorvastatin or pravastatin.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602052,"variant_haplotypes":"rs2942857","gene":"UGT2B10","drugs":"cotinine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This annotation was on rs116294140, but dbSNP has merged these two rs IDs.","sentence":"Genotype CC is associated with increased exposure to cotinine in people with Tobacco Use Disorder as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002186,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"clopidogrel, clopidogrel thiol metabolite H4","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele A is not associated with exposure to clopidogrel or clopidogrel thiol metabolite H4 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827787019,"variant_haplotypes":"rs7972","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the slowest clearance and the highest urinary excretion of unmetabolized C(13)-DCA was observed for a subject homozygous for G for rs7975,G for rs7972, T for rs1046428.","sentence":"Allele G is associated with decreased clearance of dichloroacetic acid in children with Mitochondrial Diseases.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Mitochondrial Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185012329,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"no","notes":"All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. ACE genotype was not significantly associated with C/D of tacrolimus at any time point.","sentence":"Genotype del/del is not associated with concentrations of tacrolimus in children with liver transplantation.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3555061","article_title":"Impact of the CYP2C8 *3 polymorphism on the drug\u2013drug interaction between gemfibrozil and pioglitazone","article_path":"articles/PMC3555061.md","variant_annotation_id":1449713390,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"pioglitazone","pmid":22625877,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C8 *1/*1 is associated with decreased clearance of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510524,"variant_haplotypes":"rs11246226","gene":"DRD4","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002).","sentence":"Genotype AA is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotypes AC + CC.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372692,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"antidepressants","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"The TT genotype was associated with non-remission, white the GG and GT genotypes were associated with treatment remission at 6 weeks.","sentence":"Genotype TT is associated with decreased response to antidepressants in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359252,"variant_haplotypes":"rs6356","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele T is not associated with response to heroin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522360,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"Genotype GG is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2886925","article_title":"The Influence of CYP2C19 Polymorphism on Eradication of Helicobacter pylori: A Prospective Randomized Study of Lansoprazole and Rabeprazole","article_path":"articles/PMC2886925.md","variant_annotation_id":1183680085,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"lansoprazole","pmid":20559522,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to the *1/*2 or *1/*3 genotype, or the *2/*2, *2/*3 or *3/*3 genotype. No significant differences in percent eradication rate of Helicobacter pylori (H. pylori) were seen between any of the genotype groups. Patients were also given amoxicillin and clarithromycin, and were treated for 1 week. Please note these genotypes were referred to by their previous designations of m1 (*2) and m2 (*3).","sentence":"CYP2C19 *1/*1 is not associated with response to lansoprazole in people with Helicobacter Infections.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043146,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association was found with this SNP, though there was a trend for lower plasma concentrations in patients with the CT genotype. This variant was described as 521T>C.","sentence":"Genotype CT is not associated with increased metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4364852","article_title":"Response to the dipeptidyl peptidase-4 inhibitors in Japanese patients with type 2 diabetes might be associated with a diplotype of two single nucleotide polymorphisms on the interleukin-6 promoter region under a certain level of physical activity","article_path":"articles/PMC4364852.md","variant_annotation_id":1452876860,"variant_haplotypes":"rs2097677","gene":null,"drugs":"alogliptin, linagliptin, sitagliptin, teneligliptin, vildagliptin","pmid":25802725,"phenotype_category":"Efficacy","significance":"no","notes":"\"The result showed that the diplotype rs1800796 G/*\u2013rs2097677 A/* had a lower risk for being non-responders than C/C-G/G in the moderate/high group (adjusted odds ratio 0.153, 95% CI 0.044\u20130.535, P = 0.003), but not in the low group (Table6).\"","sentence":"Allele A is associated with increased response to alogliptin, linagliptin, sitagliptin, teneligliptin or vildagliptin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4922322","article_title":"\u00bbTreatment Resistance\u00ab Enigma Resolved by Pharmacogenomics - A Case Study of Clozapine Therapy in Schizophrenia","article_path":"articles/PMC4922322.md","variant_annotation_id":1452852875,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"clozapine","pmid":28356835,"phenotype_category":"Dosage","significance":"no","notes":"Case study: CYP1A2 *1F/*1F is associated with increased dose of clozapine in women with Schizophrenia. At does of 300mg/day with no other medication and under supervised compliance for 2 weeks the patient did not have therapeutic serum drug levels (therapeutic threshold: 0.03 mg/L) and dose was raised to 450 mg/day after which serum clozapine levels rose to 0.49 mg/l and PANSS decreased i.e.. response achieved. She was also genotyped for CYP2D6 and was *1/*4. Annotation done on rs762551 (-163C>A). PharmVar released an updated CYP1A2 nomenclature 12/2024. At this point, -163 C>A was included in 26 core alleles with *30 being the SNP by itself. The 25 other core alleles include the -163 C>A SNP in addition to amino acid changes.","sentence":"Genotype AA is associated with increased dose of clozapine in women with Schizophrenia.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170856,"variant_haplotypes":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C9","drugs":"endoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of endoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003645,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4800352","article_title":"Development and Comparison of Warfarin Dosing Algorithms in Stroke Patients","article_path":"articles/PMC4800352.md","variant_annotation_id":1448267942,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":26996562,"phenotype_category":"Dosage","significance":"not stated","notes":"Warfarin dose was 6 mg/day in the one patient with the GG genotype, and 4.6+/-1.9 mg/day in the 17 patients with the AG genotype, as compared to 3.6+/-1.2 in patients with the AA genotype. Additionally, this study undertook the development of a warfarin pharmacogenetic dosing algorithm and then compared it against other dosing algorithms. This variant was included in the algorithm. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are associated with increased dose of warfarin in people with Stroke as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5485718","article_title":"Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel","article_path":"articles/PMC5485718.md","variant_annotation_id":1448624859,"variant_haplotypes":"rs2254638","gene":"N6AMT1","drugs":"clopidogrel","pmid":27981573,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant was associated with decreased active metabolite H4 concentration.","sentence":"Allele G is associated with decreased metabolism of clopidogrel as compared to genotype AA.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747027,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*15, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *15 is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*15","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} -{"pmcid":"PMC7793629","article_title":"Evaluating the association of single-nucleotide polymorphisms with tenofovir exposure in a diverse prospective cohort of women living with HIV","article_path":"articles/PMC7793629.md","variant_annotation_id":1448821487,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"tenofovir","pmid":28462920,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the GT or TT genotype had a 1.51-fold increase in tenofovir area under the concentration-time curve (AUC) as compared to those with the GG genotype. Multivariable model controlling for age (per decade), body mass index (per 10 percent increase), African American race, ritonavir use, and whether eGFR is less than 70 ml/min per 1.73m2.","sentence":"Genotypes GT + TT are associated with increased concentrations of tenofovir in women with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184756997,"variant_haplotypes":"rs4653436","gene":"EPHX1","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372722,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"nortriptyline","pmid":30874608,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype TT is not associated with response to nortriptyline in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC11111788","article_title":"CYP2C19 and CYP2J2 genotypes predict praziquantel plasma exposure among Ethiopian school-aged children","article_path":"articles/PMC11111788.md","variant_annotation_id":1452484840,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"praziquantel","pmid":38778126,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"carriers of CYP2C19 (*2, *3) had an increase in mean PZQ plasma concentration of 0.27 ng/ml (95% CI 0.08\u20130.46 and p\u2009=\u20090.005) compared to CYP2C19 *1/*1, or *17 carriers.\" \" there was a significant association of CYP2C19 and CYP2J2 genotypes with PZQ plasma concentration and trans-4-OH PZQ/PZQ and Cis-4-OH PZQ/PZQ metabolic ratios. \"","sentence":"CYP2C19 *1/*2 + *2/*2 + *1/*3 + *3/*3 is associated with increased concentrations of praziquantel in children with Schistosomiasis as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17.","alleles":"*1/*2 + *2/*2 + *1/*3 + *3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Schistosomiasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":null} -{"pmcid":"PMC7221122","article_title":"Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy","article_path":"articles/PMC7221122.md","variant_annotation_id":1451151740,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"phenytoin","pmid":32457604,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between the variant and the number of patients with drug-resistant epilepsy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with resistance to phenytoin in people with Epilepsy as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107134,"variant_haplotypes":"rs1042714","gene":"ADRB2","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or Hispanic patients.","sentence":"Allele G is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5546927","article_title":"The Effect of Gene Variants on Levonorgestrel Pharmacokinetics when Combined with Antiretroviral Therapy containing Efavirenz or Nevirapine","article_path":"articles/PMC5546927.md","variant_annotation_id":1448684682,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"levonorgestrel","pmid":28187506,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients treated with levonorgestrel implant plus efavirenz. The authors hypothesize that the high EFV plasma concentrations associated with these SNPs may result in greater EFV induction of CYP3A4, resulting in increased LNG metabolism and lower LNG exposure in the patients who were heterozygous or homozygous for CYP2B6 516G>T or CYP2B6 15582C>T.","sentence":"Genotype CT is associated with decreased concentrations of levonorgestrel in women with HIV Infections as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682034,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"no","notes":"Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes or central subfield macular thickness (CSMT) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.","sentence":"Allele C is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995977,"variant_haplotypes":"rs7234029","gene":"PTPN2","drugs":"etanercept","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"No significant associations were seen at either six months or two years after the beginning of treatment when response was measured as number of patients in remission or with low disease activity or by EULAR score.","sentence":"Allele G is not associated with response to etanercept in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5598801","article_title":"Effect of UDP-Glucuronosyltransferase (UGT) 1A Polymorphism (rs8330 and rs10929303) on Glucuronidation Status of Acetaminophen","article_path":"articles/PMC5598801.md","variant_annotation_id":1451343760,"variant_haplotypes":"rs10929303","gene":"MROH2A, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9","drugs":"acetaminophen glucuronide","pmid":28932176,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Authors describe variant as 1813C>T with C as major allele. Complemented here. Authors do not measure significance rather calculate the k value of concordance between genotype and speed of glucuronidation : homozygote reference = fast, heterozygote = intermediate and homozygote minor allele = slow.","sentence":"Genotype CC is associated with increased formation of acetaminophen glucuronide in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"formation of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5903239","article_title":"Developmental pharmacogenetics of CYP2C19 in neonates and young infants: omeprazole as a probe drug","article_path":"articles/PMC5903239.md","variant_annotation_id":1449166259,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"omeprazole","pmid":29377228,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Population pharmacokinetic modeling; authors compared clearance of metabolite (M1) of omeprazole with extensive and ultra-rapid metabolizers. CL in poor and intermediate metabolizers (*1/*2 + *2/*2) was 12.5% and 44.9% that of extensive and ultra-rapid metabolizers (*1/*1 + *1/*17)","sentence":"CYP2C19 *2 is associated with decreased clearance of omeprazole in infants with Gastroesophageal Reflux as compared to CYP2C19 *1 + *17.","alleles":"*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in infants with","population_phenotypes_or_diseases":"Disease:Gastroesophageal Reflux","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *17","comparison_metabolizer_types":null} -{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631760,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele A is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438840,"variant_haplotypes":"rs73151902","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5.0E-9.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162725,"variant_haplotypes":"rs1800872","gene":"IL10","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the EA population but it did not survive multiple testing correction. Direction of effect not stated.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6248022","article_title":"A Low Fixed Tacrolimus Starting Dose Is Effective and Safe in Chinese Renal Transplantation Recipients","article_path":"articles/PMC6248022.md","variant_annotation_id":1449749453,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29735966,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Day 7 post-transplant. Additionally, there were significantly more underexposed patients (C0 <5 ng/mL) who had the *1/*1 or *1/*3 genotype, and more overexposed patients (C0 >8 ng/mL) who had the *3/*3 genotype (p=0.045). CYP3A5 genotype was also independently associated with C0 in multivariate logistic regression analysis (p<0.001).","sentence":"CYP3A5 *3/*3 is associated with increased trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC9373641","article_title":"The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study","article_path":"articles/PMC9373641.md","variant_annotation_id":1451445125,"variant_haplotypes":"rs3750625","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":33915198,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of dexmedetomidine in men as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983254,"variant_haplotypes":"rs2831440","gene":null,"drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (T). Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele T is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3248257","article_title":"The population pharmacokinetics of R- and S-warfarin: effect of genetic and clinical factors","article_path":"articles/PMC3248257.md","variant_annotation_id":827863698,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":21692828,"phenotype_category":"Other, Metabolism/PK","significance":"not stated","notes":"For S-Warfarin in a model that included bodyweight, age and sex.","sentence":"CYP2C9 *2 is associated with decreased clearance of warfarin as compared to CYP2C9 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC8458697","article_title":"Influence of CYP2D6 and CYP3A5 Polymorphisms on the Pharmacokinetics and Pharmacodynamics of Bisoprolol in Hypertensive Chinese Patients","article_path":"articles/PMC8458697.md","variant_annotation_id":1451535546,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"bisoprolol","pmid":34568359,"phenotype_category":"Efficacy","significance":"no","notes":"CYP2D6 [*10 (100C>T, rs1065852), *4 (1934G>A, rs3892097, 1846G>A/T, rs5030865), *2 (2938C>T, rs16947, 4268G>C, rs1135840) and *5, deletion] and the CYP3A5*3 (rs776746, 6986G>A) polymorphism were selected in this study. There was no significant change in bisoprolol concentrations nor various blood pressure measurements due to CYP2D6 genotype categories.","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer is not associated with response to bisoprolol in people with Hypertension as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4609097","article_title":"Ivacaftor in a young boy with the rare gating mutation S549R - use of lung clearance index to track progress: a case report","article_path":"articles/PMC4609097.md","variant_annotation_id":1449192458,"variant_haplotypes":"rs121908757","gene":"CFTR","drugs":"ivacaftor","pmid":26474553,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report of a pediatric cystic fibrosis patient (genotype S549R/1717-1G>A) being treated with ivacaftor. Improvements in body weight, cough frequency, sputum production, physical performance, sweat chloride level and FEV1 were reported following six weeks of treatment. Paper does not state if rs121908757 or rs121909005 is the causative variant of S549R.","sentence":"Allele C is associated with response to ivacaftor in children with Cystic Fibrosis.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3946972","article_title":"Pharmacotherapy Effects on Smoking Cessation Vary with Nicotine Metabolism Gene (CYP2A6)","article_path":"articles/PMC3946972.md","variant_annotation_id":1450820529,"variant_haplotypes":"CYP2A6 high activity","gene":"CYP2A6","drugs":"nicotine","pmid":24033696,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with a predicted CYP2A6 \"fast metabolizer\" phenotype were less likely to relapse from smoking cessation when treated with nicotine replacement therapy as compared to CYP2A6 \"slow metabolizers\".","sentence":"CYP2A6 high activity is associated with increased response to nicotine in people with Tobacco Use Disorder as compared to CYP2A6 low activity.","alleles":null,"specialty_population":null,"metabolizer_types":"high activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"low activity"} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438549,"variant_haplotypes":"rs3745274","gene":"CYP2A7P1, CYP2B6","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755954,"variant_haplotypes":"rs2444933","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864546,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP defines CYP2C9*2. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647605,"variant_haplotypes":"rs756770","gene":"ADAMTSL2","drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele A is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3597465","article_title":"COMT Val158Met, BDNF Val66Met, and OPRM1 Asn40Asp and Methamphetamine Dependence Treatment Response: Preliminary Investigation","article_path":"articles/PMC3597465.md","variant_annotation_id":1450813976,"variant_haplotypes":"rs6265","gene":"BDNF","drugs":"modafinil","pmid":22217949,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and Treatment Effectiveness Scores following modafinil treatment compared to placebo.","sentence":"Allele C is not associated with response to modafinil in people with methamphetamine dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Methamphetamine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3481266","article_title":"Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiator VX-770 (Ivacaftor) Opens the Defective Channel Gate of Mutant CFTR in a Phosphorylation-dependent but ATP-independent Manner","article_path":"articles/PMC3481266.md","variant_annotation_id":981755766,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor","pmid":22942289,"phenotype_category":"Efficacy","significance":"not stated","notes":"In vitro studies using proteoliposomes containing CFTR, or CFTR with the G551D mutation (rs75527207 allele A), or CFTR with the F508del mutation (rs113993960 allele del). Ivacaftor in the presence of ATP potentiated channel activity of CFTR-F508del.","sentence":"Allele del is associated with increased response to ivacaftor.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491475,"variant_haplotypes":"CYP2B6*1","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"*1/*1 is associated with low plasma efavirenz concentrations (units = mg/L), as shown through multivariate analysis. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"CYP2B6 *1/*1 is associated with increased clearance of efavirenz in people with HIV.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3175513","article_title":"Influence of genetic, biological and pharmacological factors on warfarin dose in a Southern Brazilian population of European ancestry","article_path":"articles/PMC3175513.md","variant_annotation_id":1184510322,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":21320153,"phenotype_category":"Dosage","significance":"yes","notes":"in a Southern Brazilian population of European ancestry.","sentence":"CYP2C9 *1/*2 + *1/*3 + *2/*2 + *2/*3 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*2 + *1/*3 + *2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10967865","article_title":"Impact of Pharmacogenetic Testing on Clozapine Treatment Efficacy in Patients with Treatment-Resistant Schizophrenia","article_path":"articles/PMC10967865.md","variant_annotation_id":1452435362,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"clozapine, n-desmethylclozapine","pmid":38540209,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Our analysis showed that only when comparing the mean plasma levels of CLZ and NCLZ for 5-HTTLPR S allele carriers versus L allele carriers, a significant difference was obtained (370 vs. 445 ng/mL CLZ plasma levels p = 0.008; 232 vs. 263 ng/mL NCLZ plasma levels p = 0.049). The S allele carriers showed the lowest CLZ and NCLZ plasma levels versus L allele carriers.\"","sentence":"SLC6A4 HTTLPR short form (S allele) is associated with decreased concentrations of clozapine and n-desmethylclozapine in people with Schizophrenia as compared to SLC6A4 HTTLPR long form (L allele).","alleles":"HTTLPR short form (S allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR long form (L allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC8940650","article_title":"Effect of CYP3A5 and CYP3A4 Genetic Variants on Fentanyl Pharmacokinetics in a Pediatric Population","article_path":"articles/PMC8940650.md","variant_annotation_id":1451678340,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fentanyl","pmid":34877660,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with clearance of fentanyl in children as compared to allele A (assigned as normal metabolizer phenotype) .","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5808057","article_title":"No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA","article_path":"articles/PMC5808057.md","variant_annotation_id":1449160218,"variant_haplotypes":"rs1861647","gene":"SLC6A2","drugs":"3,4-methylenedioxymethamphetamine","pmid":29198060,"phenotype_category":"Other","significance":"yes","notes":"The GG genotype was associated with increased heart rate, but not with plasma concentrations nor mean arterial pressure.","sentence":"Genotype GG is associated with increased response to 3,4-methylenedioxymethamphetamine as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679530,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"rabeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to the *1/*2 or *1/*3 genotype, or the *2/*2, *2/*3 or *3/*3 genotype. No significant differences in eradication rate of Helicobacter pylori (H. pylori) were seen between any of the genotype groups.This was a meta-analysis and included 13 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin or amoxicillin and metronidazole as part of triple therapy.","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in people with Helicobacter Infections.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6479273","article_title":"CYP2C9*61, a rare missense variant identified in a Puerto Rican patient with low warfarin dose requirements","article_path":"articles/PMC6479273.md","variant_annotation_id":1450180271,"variant_haplotypes":"rs202201137","gene":"CYP2C9","drugs":"warfarin","pmid":30518301,"phenotype_category":"Dosage","significance":"no","notes":"in a single individual who also had \"factors like the advanced age of the patient, liver function, co-morbidities, drug-to-drug interactions and the presence of other polymorphisms (CYP2C9*2 and CYP2C9*5) \"","sentence":"Allele G is associated with decreased dose of warfarin.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6493375","article_title":"ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients","article_path":"articles/PMC6493375.md","variant_annotation_id":827921746,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"antiepileptics","pmid":22630058,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was also part of haplotype associated with response/resistance.","sentence":"Genotypes CT + TT are associated with increased resistance to antiepileptics in people with Epilepsy as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491287,"variant_haplotypes":"rs12655684","gene":"SV2C","drugs":"ziprasidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype CC is not associated with response to ziprasidone in people with Schizophrenia as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4324232","article_title":"Subgroup Differences in Response to 8 Weeks of Ledipasvir/Sofosbuvir for Chronic Hepatitis C","article_path":"articles/PMC4324232.md","variant_annotation_id":1444870968,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"ledipasvir, sofosbuvir","pmid":25734178,"phenotype_category":"Efficacy","significance":"yes","notes":"in HCV genotype 1 patients. Patients with the CC genotype have higher SVR rates than patients with the TT genotype. The SVR rate was 98.9% in women and 98.2% in individuals with the rs12979860-CC genotype, 95.1% in patients with the CT genotype and 90.9% in TT genotype patients. Black patients had a lower SVR rate than individuals of other racial groups; however, that association did not reach statistical significance (P= 0.08)","sentence":"Genotype CC is associated with increased response to ledipasvir and sofosbuvir in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450984448,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"atazanavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"subjects with zero CGC copies had faster atazanavir CL/F and lower Cmin compared with individuals with one or two CGC copies\" (complemented to plus chromosomal strand). In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 1-7 (atazanavir alone). By the end of day 7 oral clearance of atazanavir was 0.25, 0.18, 0.17 L/h/kg in people with 0, 1 or 2 copies of the haplotype, respectively. Cmin was 66, 159 and 209 ng/mL in people with 0,1 or 2 copies, respectively.","sentence":"Genotype AA is associated with increased clearance of atazanavir in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC1874463","article_title":"Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism","article_path":"articles/PMC1874463.md","variant_annotation_id":769278041,"variant_haplotypes":"rs5031016","gene":"CYP2A6","drugs":"nicotine","pmid":12445030,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"This is a SNP within the CYP2A6*7 or *10 allele. Individuals with these alleles or *4 had impaired nicotine metabolism in this study. Statistics were comparing metabolism levels in Japanese and Korean subjects, rather than these alleles compared to wildtype.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC1884506","article_title":"Effects of various factors on steady-state plasma concentrations of risperidone and 9-hydroxyrisperidone: lack of impact of MDR-1 genotypes","article_path":"articles/PMC1884506.md","variant_annotation_id":1183620362,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"risperidone","pmid":15089809,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was seen between this SNP and metabolism of risperidone.","sentence":"Allele C is not associated with increased metabolism of risperidone in people with Schizophrenia as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703589,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA or AG genotype had a decreased likelihood of achieving complete molecular response (CMR) within 12 months, as compared to those with the GG genotype. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%. Please note that alleles have been complemented to the plus chromosomal strand, and that this SNP was listed as rs60023214.","sentence":"Genotypes AA + AG is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11943653","article_title":"CYP2D6 Genotyping for Optimization of Tamoxifen Therapy in Indonesian Women with ER+ Breast Cancer","article_path":"articles/PMC11943653.md","variant_annotation_id":1453085402,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10, CYP2D6*36","gene":"CYP2D6","drugs":"tamoxifen","pmid":40137409,"phenotype_category":"Dosage","significance":"not stated","notes":"\" The statistical analysis at baseline showed that the endoxifen level of the PMs-IMs was significantly lower than NM (p < 0.001).\" \"A follow-up consultation was individually scheduled for each participant to inform treatment adjustment, where relevant. There were 83 NMs who were advised to continue taking the standard dose of 20 mg daily. Meanwhile, there were 65 IMs and 2 PMs who were given a recommendation to adjust their tamoxifen dose to 40 mg daily. However, a total of 17 IMs and 2 PMs were deemed clinically unfit for tamoxifen dosage increase and recommended to switch to aromatase inhibitor. Individuals switching to aromatase inhibitors were not followed up further for assessment of metabolite levels changes, side effect monitoring, and survival analysis as tamoxifen is this study\u2019s drug of interest. \"","sentence":"CYP2D6 *10/*36 (assigned as intermediate metabolizer phenotype) is associated with increased dose of tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*36 + *2/*10 + *1/*1 + *2/*36 + *1/*10 + *10/*10 (assigned as normal metabolizer phenotype) .","alleles":"*10/*36","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*36 + *2/*10 + *1/*1 + *2/*36 + *1/*10 + *10/*10","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4862932","article_title":"Single Dose, CYP2D6 Genotype-Stratified Pharmacokinetic Study of Atomoxetine in Children with ADHD","article_path":"articles/PMC4862932.md","variant_annotation_id":1447943783,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*4xN, CYP2D6*5, CYP2D6*9, CYP2D6*10, CYP2D6*17, CYP2D6*29, CYP2D6*41","gene":"CYP2D6","drugs":"atomoxetine","pmid":26660002,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"single dose study with an average of 0.43 mg/kg. Children received either a single dose of 10, 18, 25, 30 or 40 mg atomoxetine depending on body weight. Cmax of 4 hydroxy atomoxetine was lower in PM (two no function alleles) as compared to EM (one or two functional alleles) (p<0.002 or p<0.001) but not significantly different to IM (one reduced and one no function allele).","sentence":"CYP2D6 *4/*4xN + *4/*4 are associated with increased concentrations of atomoxetine in children with Attention Deficit Disorder with Hyperactivity as compared to CYP2D6 *1/*1 + *1/ *2 + *2/*4 + *1/*4 + *1/*3 + *2/*5 + *10/*41 + *9/*29 + *5/*17 + *4/*9.","alleles":"*4/*4xN + *4/*4","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/ *2 + *2/*4 + *1/*4 + *1/*3 + *2/*5 + *10/*41 + *9/*29 + *5/*17 + *4/*9","comparison_metabolizer_types":null} -{"pmcid":"PMC2743299","article_title":"GENE AND GENE BY SEX ASSOCIATIONS WITH INITIAL SENSITIVITY TO NICOTINE IN NONSMOKERS","article_path":"articles/PMC2743299.md","variant_annotation_id":1450812294,"variant_haplotypes":"rs1800497","gene":"ANKK1, DRD2","drugs":"nicotine","pmid":18690117,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and nicotine reward, perception, mood or reinforcement or physiological responses to nicotine.","sentence":"Allele A is not associated with response to nicotine in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2766479","article_title":"Influence of ABCB1 gene polymorphisms on the pharmacokinetics of verapamil among healthy Chinese Han ethnic subjects","article_path":"articles/PMC2766479.md","variant_annotation_id":982036220,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"verapamil","pmid":19740397,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CC genotype had lower oral clearance and higher AUC than patients with the AA or AC genotype. This SNP was studied together with rs1045642. Subjects were non-randomly chosen in order to study patients homozygous for the wildtype at both SNPs, heterozygous for both SNPs, and homozygous for the variant at both SNPs.","sentence":"Genotype CC is associated with decreased metabolism of verapamil in healthy individuals as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678320,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no association between dose (mean daily, or mean maintenance) with the genotype. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype CC is not associated with dose of carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713618,"variant_haplotypes":"rs773123","gene":"ERBB3","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"yes","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival.","sentence":"Allele A is associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794132,"variant_haplotypes":"rs1060896","gene":"SLC28A2","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype AA is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4618180","article_title":"Response to treatment following recently acquired hepatitis C virus infection in a multi-centre collaborative cohort","article_path":"articles/PMC4618180.md","variant_annotation_id":1444843635,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26098993,"phenotype_category":"Efficacy","significance":"no","notes":"in HCV genotype 2/3 infected patients.","sentence":"Genotype CC is not associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949757,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"yes","notes":"Frequency of CYP2C19*2 (rs4244285) AA/AG genotypes was significantly higher in clopidogrel-resistant patients than in clopidogrel-sensitive patients.","sentence":"CYP2C19 *1/*2 + *2/*2 are associated with increased resistance to clopidogrel in people with Stroke as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2515139","article_title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","article_path":"articles/PMC2515139.md","variant_annotation_id":982032947,"variant_haplotypes":"rs4917639","gene":"CYP2C9","drugs":"warfarin","pmid":18535201,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC1995596","article_title":"Exploring joint effects of genes and the clinical efficacy of morphine for cancer pain: OPRM1 and COMT gene","article_path":"articles/PMC1995596.md","variant_annotation_id":731493498,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"morphine","pmid":17156920,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased dose of morphine as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC8890732","article_title":"Effects of cytochrome P450 2B6 and constitutive androstane receptor genetic variation on Efavirenz plasma concentrations among HIV patients in Kenya","article_path":"articles/PMC8890732.md","variant_annotation_id":1451707041,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":35235559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Described as 983T>C","sentence":"Allele C is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180222,"variant_haplotypes":"rs5569","gene":"SLC6A2","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype GG is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC10409991","article_title":"Effects of CYP3A4*22 polymorphism on trough concentration of tacrolimus in kidney transplantation: a systematic review and meta-analysis","article_path":"articles/PMC10409991.md","variant_annotation_id":1452207120,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":37564175,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Therefore, the significant effect of CYP3A4*22 on C0/D and the dose requirement of Tac remained evident even after adjusting for CYP3A5*3.\"","sentence":"CYP3A4 *1/*22 + *22/*22 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22 + *22/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811690,"variant_haplotypes":"rs524731","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with increased scores in the dizzy, drunk, high and terrible traits on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele A is associated with increased response to ethanol as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3579261","article_title":"Population pharmacokinetics of unbound mycophenolic acid in adult allogeneic haematopoietic cell transplantation: effect of pharmacogenetic factors","article_path":"articles/PMC3579261.md","variant_annotation_id":1448107164,"variant_haplotypes":"rs6714486","gene":"UGT1A9","drugs":"mycophenolic acid","pmid":22765258,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotype AA is not associated with any pharmacokinetic parameters measured in the study when exposed to mycophenolic acid as compared to genotype TT.","sentence":"Genotype AA is not associated with metabolism of mycophenolic acid as compared to genotype TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491171,"variant_haplotypes":"rs11960832","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was assessed by a change in the total Positive and Negative Syndrome Scale (PANSS) score. TT homozygotes had a smaller decrease or an increase in PANSS score compared to C allele carriers.","sentence":"Genotype TT is associated with decreased response to olanzapine in people with Schizophrenia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5508045","article_title":"The impact of non-genetic and genetic factors on a stable warfarin dose in Thai patients","article_path":"articles/PMC5508045.md","variant_annotation_id":1448624178,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":28550460,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism and Venous Thrombosis as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4412845","article_title":"Population pharmacogenetic-based pharmacokinetic modeling of efavirenz, 7-hydroxy- and 8-hydroxyefavirenz","article_path":"articles/PMC4412845.md","variant_annotation_id":1184165591,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":24142869,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The total clearance of efavirenz was ~30% lower in those with the *6/*6 genotype as compared to those with the *1/*1 or *1/*6 genotype. Population pharmacokinetic modeling.","sentence":"CYP2B6 *6/*6 is associated with decreased clearance of efavirenz in healthy individuals as compared to CYP2B6 *1/*1 + *1/*6.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*6","comparison_metabolizer_types":null} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046680,"variant_haplotypes":"rs510317","gene":"F7","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype GG is not associated with increased dose of phenprocoumon as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC6654446","article_title":"Gender\u2010specific association between preproendothelin\u20101 genotype and reduction of systolic blood pressure during antihypertensive treatment\u2010\u2010\u2010results from the Swedish irbesartan left ventricular hypertrophy investigation versus atenolol (SILVHIA)","article_path":"articles/PMC6654446.md","variant_annotation_id":982043114,"variant_haplotypes":"rs5370","gene":"EDN1","drugs":"atenolol, irbesartan","pmid":15188945,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in diastolic blood pressure (DBP) between genotypes was seen, between baseline and 12 weeks. p-value was adjusted for age, dose, and systolic blood pressure, DBP, and left ventricular mass index (LVMI) at baseline.","sentence":"Genotype GT is not associated with response to atenolol and irbesartan in men with Essential hypertension as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in men with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2754599","article_title":"CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti","article_path":"articles/PMC2754599.md","variant_annotation_id":1184471312,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":19659438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As determined by significantly higher efavirenz plasma levels. Significant after Bonferroni correction for multiple comparisons.","sentence":"Genotype TT (assigned as poor metabolizer phenotype) is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotype GG (assigned as normal metabolizer phenotype) .","alleles":"TT","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038045,"variant_haplotypes":"rs5092","gene":"APOA4","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3901533","article_title":"A PHARMACOGENETIC STUDY OF ALDEHYDE OXIDASE I IN PATIENTS TREATED WITH XK469","article_path":"articles/PMC3901533.md","variant_annotation_id":1183699628,"variant_haplotypes":"rs10931910","gene":"AOX1","drugs":"XK469","pmid":24300566,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients with solid tumors","sentence":"Allele G is associated with decreased clearance of XK469 in people with Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4938133","article_title":"5-HTR1A and 5-HTR2A genetic polymorphisms and SSRI antidepressant response in depressive Chinese patients","article_path":"articles/PMC4938133.md","variant_annotation_id":1452039908,"variant_haplotypes":"rs17289304","gene":"HTR2A","drugs":"citalopram, fluoxetine, paroxetine, sertraline","pmid":27445478,"phenotype_category":"Efficacy","significance":"no","notes":"Response/remission measured using HAMD.","sentence":"Allele T is not associated with response to citalopram, fluoxetine, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827786955,"variant_haplotypes":"rs7975","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the most rapid clearance was observed for subjects having at least one \"wild-type\" allele (G for rs7975,G for rs7972, C for rs1046428. Rate was 2.2 +/- 0.7 vs 0.73 +/- 0.84 mL/min, and the very highest rate was seen in homozygous \"wild-type\".","sentence":"Allele G is associated with increased clearance of dichloroacetic acid in healthy individuals.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375552,"variant_haplotypes":"rs1934341","gene":"GREM2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment. This SNP is in strong LD with rs77567654.","sentence":"Allele T is associated with increased response to allopurinol.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4257570","article_title":"Population Pharmacokinetic Meta-Analysis of Vortioxetine in Healthy Individuals","article_path":"articles/PMC4257570.md","variant_annotation_id":1444665867,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"vortioxetine","pmid":24766668,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP2D6-inferred metabolic status was shown to have a significant impact on CL/F, where extensive metabolizers in general had 1.9 times the CL/F of poor metabolizers. The mean group CL/F values for the four different categories of CYP2D6-inferred metabolic status were 53 L/hr (UM), 34 L/hr (EM), 27 L/hr (IM) and 18 L/hr (PM). Please note, no specific alleles or genotypes for CYP2D6 were reported. The article stated the following categorization of CYP2D6 phenotypes: 'Alleles with full functionality were assigned a gene dose of 1 and alleles with reduced functionality a value of 0.5, while alleles with no functionality were assigned a value of zero. If the sum of the gene dose for the alleles was zero, the inferred metabolic status was categorized as poor metabolizer (PM), if the sum was 0.5 or 1, the category was intermediate metabolizer (IM), if the sum was 1.5 or 2, the category was extensive metabolizer (EM) and for a sum over 2, the category was set to ultra metabolizer (UM)'.","sentence":"CYP2D6 poor metabolizer is associated with decreased clearance of vortioxetine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4243881","article_title":"Effect of UGT1A1, UGT1A3, DIO1 and DIO2 polymorphisms on L-thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer","article_path":"articles/PMC4243881.md","variant_annotation_id":1184990094,"variant_haplotypes":"rs12885300","gene":"DIO2","drugs":"levothyroxine","pmid":24910925,"phenotype_category":"Dosage","significance":"no","notes":"This SNP was not associated with dose in univariate regression.","sentence":"Allele T is not associated with dose of levothyroxine in people with Thyroid Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Thyroid tumor","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3779247","article_title":"Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C","article_path":"articles/PMC3779247.md","variant_annotation_id":1444706639,"variant_haplotypes":"rs10877012","gene":"CYP27B1","drugs":"peginterferon alfa-2b, ribavirin","pmid":24073221,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype is not significantly associated with sustained virological response (SVR).","sentence":"Allele T is not associated with response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755946,"variant_haplotypes":"rs3823036","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448495164,"variant_haplotypes":"rs2606345","gene":"CYP1A1","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes.","sentence":"Genotypes AA + AC are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755999,"variant_haplotypes":"rs172731","gene":"TMEM205","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4304713","article_title":"Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses","article_path":"articles/PMC4304713.md","variant_annotation_id":1444693992,"variant_haplotypes":"rs9384179","gene":"OPRM1","drugs":"fentanyl","pmid":25615449,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.","sentence":"Genotype AA is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553338,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Patients with the AG genotype did not have significantly different methotrexate plasma levels compared to those with the GG genotype.","sentence":"Genotype AA is associated with increased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4199712","article_title":"Effects of Cytochrome P450 2C19 and Paraoxonase 1 Polymorphisms on Antiplatelet Response to Clopidogrel Therapy in Patients with Coronary Artery Disease","article_path":"articles/PMC4199712.md","variant_annotation_id":1184990042,"variant_haplotypes":"CYP2C19*1, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":25329996,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"CYP2C19 *3 is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3164274","article_title":"UGT1A6 and UGT2B15 Polymorphisms and Acetaminophen Conjugation in Response to a Randomized, Controlled Diet of Select Fruits and Vegetables","article_path":"articles/PMC3164274.md","variant_annotation_id":1185000474,"variant_haplotypes":"UGT2B15*1, UGT2B15*2","gene":"UGT2B15","drugs":"acetaminophen","pmid":21666065,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Acetaminophen gluc/acetaminophen ratio decreased in a dose-dependent manner from *1/*1 subjects to *1/*2 and *2/*2 subjects. Please note UGT2B15 was genotyped with rs1902023.","sentence":"UGT2B15 *2 is associated with decreased metabolism of acetaminophen in healthy individuals as compared to UGT2B15 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705484,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes CT + TT is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5427048","article_title":"The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients","article_path":"articles/PMC5427048.md","variant_annotation_id":1448603998,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":28229376,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 *1/*1 is not associated with trough concentration of tacrolimus in children with Kidney Transplantation as compared to CYP3A4 *1/*22.","alleles":"*1/*1","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*22","comparison_metabolizer_types":null} -{"pmcid":"PMC3617060","article_title":"The ability of plasma cotinine to predict nicotine and carcinogen exposure is altered by differences in CYP2A6: the influence of genetics, race and sex","article_path":"articles/PMC3617060.md","variant_annotation_id":1452644929,"variant_haplotypes":"CYP2A6 low activity","gene":"CYP2A6","drugs":"cotinine","pmid":23371292,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in non-smokers. \"Reduced CYP2A6 activity altered cotinine formation less than cotinine removal resulting in ratios of formation to removal of 1.31 and 1.12 in CYP2A6 reduced and normal metabolizers (P = 0.01), or 1.39 and 1.12 in males and females (P = 0.001), suggesting an overestimation of tobacco exposure in slower metabolizers.\" Reduced metabolizers were defined as subjects with one or two copies of *2,*4, *7,*9,*10,*12,*17,*35.","sentence":"CYP2A6 low activity is associated with increased concentrations of cotinine as compared to CYP2A6 high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} -{"pmcid":"PMC6125540","article_title":"Is It Time for Systematic Voriconazole Pharmacogenomic Investigation for Central Nervous System Aspergillosis?","article_path":"articles/PMC6125540.md","variant_annotation_id":1449732339,"variant_haplotypes":"CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":29967027,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report. A 75-year-old woman developed central nervous system aspergillosis. She was treated with therapeutic drug monitoring-guided voriconazole therapy. Optimal trough concentrations were difficult to reach despite very high doses of voriconazole. The patient was then found to be homozygous for the CYP2C19*17 variant. Treatment was changed to isavuconazole. Four months after isavuconazole introduction, clinical outcome was favorable. Authors state that this CYP2C19 mutation was \"partially responsible for the therapeutic failure of voriconazole\".","sentence":"CYP2C19 *17/*17 is associated with decreased response to voriconazole in people with Mycoses.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3390407","article_title":"Genome-Wide Association Analysis in Asthma Subjects Identifies SPATS2L as a Novel Bronchodilator Response Gene","article_path":"articles/PMC3390407.md","variant_annotation_id":978639673,"variant_haplotypes":"rs295137","gene":"SPATS2L","drugs":"salbutamol","pmid":22792082,"phenotype_category":"Efficacy","significance":"no","notes":"Median Bronchodilator response was 16.0 (inter-quartile range [6.2, 32.4]) for TT, 10.9(inter-quartile range [4.1,21.7]) for CC + CT. Association did not reach significance after Bonferroni correction, but authors followed up on the association and found siRNA knockdown evidence for this being a valid result. [stat_test:linear regression].","sentence":"Genotype TT is associated with increased response to salbutamol in people with Asthma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703599,"variant_haplotypes":"rs11993031","gene":"CSMD1","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele T is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2652833","article_title":"A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose","article_path":"articles/PMC2652833.md","variant_annotation_id":637880240,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19300499,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755911,"variant_haplotypes":"rs7204252","gene":"LRP1","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6142943","article_title":"Association of Genetic Variants With Response to Anti\u2013Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration","article_path":"articles/PMC6142943.md","variant_annotation_id":1449566942,"variant_haplotypes":"rs12138564","gene":"CCT3","drugs":"bevacizumab, ranibizumab","pmid":29852030,"phenotype_category":"Efficacy","significance":"no","notes":"GWAS in discovery and replication cohort the T allele was nominally associated with improved response (as assessed by improvements in visual acuity (VA)) but only nominally after multiple testing correction. The GT genotype was associated with greater improvement in VA as compared to the GG genotype (P = .008), but the TT was associated with the largest improvement in VA (P = .002).","sentence":"Allele T is associated with increased response to bevacizumab and ranibizumab in people with Macular Degeneration as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5734971","article_title":"Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment","article_path":"articles/PMC5734971.md","variant_annotation_id":1449182334,"variant_haplotypes":"rs1799972","gene":"OPRM1","drugs":"morphine","pmid":29259946,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"No association was observed between this variant and a patient's initial dose requirement or their need to escalate their dose of morphine.","sentence":"Allele T is not associated with dose of morphine in people with Pain as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4982581","article_title":"Pharmacokinetic profiles of significant adverse events with crizotinib in Japanese patients with ABCB1 polymorphism","article_path":"articles/PMC4982581.md","variant_annotation_id":1450989160,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"crizotinib","pmid":27270784,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was only one individual who was AA at all three locations that define *2 (rs1128503, rs2032582 and rs1045642). Individuals who were AA at one location (n=3) also had slightly increased exposure compared to \"wild type or heterozygotes\" (n=4). Increased exposure was significantly associated with toxicity. (alleles complemented to plus chromosomal strand)","sentence":"Genotype AA is associated with increased exposure to crizotinib in people with.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700199,"variant_haplotypes":"rs1042919","gene":"RRM1","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"The AT genotype was associated with lower intracellular cytarabine levels in leukemic blasts at day 1 and 2 of therapy, and poor event-free survival. Risk of relapse was not significantly different. No multiple testing adjustments were performed: 7 SNPs were investigated.","sentence":"Genotype AT is associated with decreased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotype AA.","alleles":"AT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567921,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the AA or AG genotype had a 48% higher mean sirolimus log-transformed dose-adjusted trough concentrations (C/D) as compared to those with the GG genotype. Multivariate analysis. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AA + AG are associated with increased dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6767327","article_title":"Enantiospecific Pharmacogenomics of Fluvastatin","article_path":"articles/PMC6767327.md","variant_annotation_id":1450823485,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"fluvastatin","pmid":30989645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is in complete LD with rs77760615. This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of both 3R,5S-fluvastatin and 3S,5R-fluvastatin and total fluvastatin.","sentence":"CYP2C9 *3 is associated with increased concentrations of fluvastatin in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446895972,"variant_haplotypes":"rs9328202","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% delta HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5817388","article_title":"Association of CTH variant with sinusoidal obstruction syndrome in children receiving intravenous busulfan and cyclophosphamide before hematopoietic stem cell transplantation","article_path":"articles/PMC5817388.md","variant_annotation_id":1448525501,"variant_haplotypes":"rs648743","gene":"CTH","drugs":"busulfan","pmid":27779248,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype TT is not associated with clearance of busulfan in children with Hematopoietic stem cell transplantation as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163299,"variant_haplotypes":"rs2239393","gene":"COMT","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":827784991,"variant_haplotypes":"rs6438552","gene":"GSK3B","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"yes","notes":"This result is for the combination of GG at this SNP with rs2071427 TT. People with this genotype combination had a 75% chance of being in the Li-responsive group. People with rs2071427 CC/rs6438552 AA had a 44% response rate. Those with 2 or 3 favorable alleles had responses on a gradient between these two results.","sentence":"Genotype GG is associated with increased response to lithium in people with Bipolar Disorder.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC1087660","article_title":"Should We Use N-Acetyltransferase Type 2 Genotyping To Personalize Isoniazid Doses?","article_path":"articles/PMC1087660.md","variant_annotation_id":981848260,"variant_haplotypes":"NAT2*4","gene":"NAT2","drugs":"isoniazid","pmid":15855489,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"88% of overall variability in isoniazid clearance was accounted for by the number of NAT2*4 alleles.","sentence":"NAT2 *4 is associated with increased clearance of isoniazid in healthy individuals.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5817390","article_title":"An integrated pharmacokinetic/pharmacogenomic analysis of ABCB1 and SLCO1B1 polymorphisms on edoxaban exposure","article_path":"articles/PMC5817390.md","variant_annotation_id":1448525865,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"edoxaban","pmid":27897269,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in total plasma exposure (AUCinf), peak plasma exposure (Cmax), trough concentrations (C24), plasma exposure from the time of dosing to the last measurable concentration (AUClast), or plasma exposure up to 24 hours after dosing (AUC0-24) were seen between the genotype groups. This indicates that this SNP \"does not influence edoxaban exposure\". However, the authors state that exposure to the M4 metabolite is elevated in individuals with the CC or CT genotype as compared to the TT genotype, though they do not provide any statistical information, and state that it does not increase exposure in \"a clinically meaningful way\".","sentence":"Genotypes CC + CT is not associated with exposure to edoxaban in healthy individuals as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7883889","article_title":"A Delta-Opioid Receptor Gene Polymorphism Moderates the Therapeutic Response to Extended-Release Buprenorphine in Opioid Use Disorder","article_path":"articles/PMC7883889.md","variant_annotation_id":1451676000,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"buprenorphine","pmid":32920647,"phenotype_category":"Efficacy","significance":"yes","notes":"This was found in European Americans only. The opposite association was found in African Americans but was not statistically significant.","sentence":"Genotypes CT + TT are associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3182303","article_title":"The Pharmacogenetics of NAT2 Enzyme Maturation in Perinatally HIV Exposed Infants Receiving Isoniazid","article_path":"articles/PMC3182303.md","variant_annotation_id":981476160,"variant_haplotypes":"NAT2*1, NAT2*4, NAT2*6, NAT2*7, NAT2*14, NAT2*16","gene":"NAT2","drugs":"isoniazid","pmid":21558457,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Fast acetylators (two fast alleles NAT2*4, *12, *13) (originally annotated as *4, *12A, *13A) were grouped together, compared to intermediate (one fast and one slow allele) and slow acetylators (two slow alleles NAT2*5, *6, *7, *14) (originally annotated as *5A, *6B, *7A, *14A) in an analysis of clearance of isoniazid in infants over time from 3 months old to 24 months (normalized for 70kg body weight). Fast acetylators displayed an increase in clearance over this time period, also seen in intermediate acetylators but in slow acetylators clearance remained constant over time.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles in included in this annotation are mapped as following: NAT2*12A under the *1 core allele; NAT2*13A under the *4 core allele; NAT2*14A under the *14 core allele; NAT2*5A under the *16 core allele; ; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *16 + *6 + *7 + *14 is associated with decreased clearance of isoniazid in children with HIV Infections as compared to NAT2 *4 + *1.","alleles":"*16 + *6 + *7 + *14","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*4 + *1","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757060,"variant_haplotypes":"rs3136516","gene":"F2","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864552,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10478012","article_title":"Implementation of Clinical Cytochrome P450 3A Genotyping for Tacrolimus Dosing in a Large Kidney Transplant Program","article_path":"articles/PMC10478012.md","variant_annotation_id":1452074800,"variant_haplotypes":"CYP3A5 intermediate metabolizer and normal metabolizer","gene":"CYP3A5","drugs":"tacrolimus","pmid":37042314,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Study measured \"CYP3A5*3 (rs776746), CYP3A5*6 (rs10264272), CYP3A5*7 (rs41303343).and alleles were assigned metabolizer; categories according to CPIC guidelines. \" \"The time totherapeutic tacrolimus trough concentrations was 6.6 \u00b1 0.6 days for normal/intermediate; metabolizers and 3.6 \u00b1 0.3 days for poor metabolizers.\" \"The; percent of patient tacrolimus trough concentrations within the desired range was 33% for normal/intermediate metabolizers and 42% for poor metabolizers\"","sentence":"CYP3A5 normal metabolizer and intermediate metabolizer is associated with increased time to response to tacrolimus in people with Kidney Transplantation as compared to CYP3A5 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC8571740","article_title":"Impact of CYP2D6 Pharmacogenomic Status on Pain Control Among Opioid\u2010Treated Oncology Patients","article_path":"articles/PMC8571740.md","variant_annotation_id":1451645100,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"codeine, fentanyl, hydrocodone, hydromorphone, methadone, morphine, oxycodone, tramadol","pmid":34423496,"phenotype_category":"Efficacy","significance":"yes","notes":"IM or PM patients were more likely to require a pain-related procedure or hospital encounter and had increased exposure to morphine or hydromorphone, presumably as a result of inadequate analgesia by CYP2D6-metabolized opioids. 93% of IM or PM patients received a CYP2D6-metabolized opioid (codeine, tramadol, oxycodone, hydrocodone). Patients with a CYP2D6 AS of 1 were assigned as NM rather than IM. Authors also considered phenoconversion and reduced AS accordingly in patients taking concomitant CYP2D6 inhibitors.","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer are associated with decreased response to codeine, fentanyl, hydrocodone, hydromorphone, methadone, morphine, oxycodone or tramadol in people with Neoplasms and Pain as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3778124","article_title":"Variation in the Alpha 5 Nicotinic Acetylcholine Receptor Subunit Gene Predicts Cigarette Smoking Intensity as a Function of Nicotine Content","article_path":"articles/PMC3778124.md","variant_annotation_id":1448107584,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"nicotine","pmid":23358500,"phenotype_category":"Other","significance":"yes","notes":"Genotype GG is associated with decreased total puff volume when exposed to nicotine compared to cigarettes containing placebo in people with Tobacco Use Disorder as compared to genotypes AA + AG.","sentence":"Genotype GG is associated with decreased dose of nicotine in people with Tobacco Use Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4591203","article_title":"Escitalopram pharmacogenetics: CYP2C19 relationships with dosing and clinical outcomes in Autism Spectrum Disorder","article_path":"articles/PMC4591203.md","variant_annotation_id":1446895835,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"escitalopram","pmid":26313485,"phenotype_category":"Efficacy","significance":"no","notes":"No difference was found between the metabolizer groups (intermediate/poor metabolizer; extensive metabolizer or ultra rapid metabolizer). *3 was genotyped but no carrier identified. *2/*2 N=1 and was grouped with *1/*2. *1/*17 and *17/*17 were grouped together as UM.","sentence":"CYP2C19 *1/*2 + *2/*2 are not associated with response to escitalopram in people with Autistic Disorder as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autism","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4583245","article_title":"A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism","article_path":"articles/PMC4583245.md","variant_annotation_id":1446903387,"variant_haplotypes":"rs113288603","gene":null,"drugs":"nicotine","pmid":26407342,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The minor allele was independently associated with decreased NMR, indicating decreased rate of nicotine clearance. rs56113850 and rs12461964 were in LD with CYP2A6*2, and esv2663194 (not annotated) was in LD with CYP2A6*9. rs56113850, rs12461964, and esv2663194 emerged as signals independently associated with NMR in GWAS and in conditional analyses. A fourth signal, rs113288603, was not significant in GWAS, but was significant after conditioning on the top associated SNP, rs56113850.","sentence":"Allele T is associated with decreased clearance of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3753270","article_title":"Novel Single Nucleotide Polymorphisms in Interleukin 6 Affect Tacrolimus Metabolism in Liver Transplant Patients","article_path":"articles/PMC3753270.md","variant_annotation_id":1184514687,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23991193,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"At 1, 3, 4 weeks post-transplantation, The C/D values of tacrolimus in both donors and recipients expressing CYP3A5 were lower than those not expressing CYP3A5.","sentence":"Genotypes CT + TT are associated with increased dose of tacrolimus in people with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170875,"variant_haplotypes":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A5","drugs":"4-hydroxytamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622261,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the *1/*1 genotype had lower area under the concentration-time curve (AUC) for rabeprazole, as compared to those with the *2/*2 genotype. Subjects were given rabeprazole for 8 days; AUC was measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 allele was referred to by its previous designation (CYP2C19*m1).","sentence":"CYP2C19 *1/*1 is associated with increased metabolism of rabeprazole in healthy individuals as compared to CYP2C19 *2/*2.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC5373545","article_title":"The risk of clopidogrel resistance is associated with ABCB1 polymorphisms but not promoter methylation in a Chinese Han population","article_path":"articles/PMC5373545.md","variant_annotation_id":1448994492,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"clopidogrel","pmid":28358842,"phenotype_category":"Efficacy","significance":"yes","notes":"There was no significant association between rs1045642 and the risk of clopidogrel resistance across the whole study cohort (p=0.288).; Genotype GG is associated with resistance to clopidogrel in people without hypoproteinaemia as compared to genotype AA (p=0.045).; Allele G is associated with increased resistance to clopidogrel in patients with hypertension compared to allele A (p=0.040) and in patients without hypoproteinaemia compared to allele A (p=0.033).; Genotypes AA + GG are not associated with resistance to clopidogrel in people with hypertension as compared to genotype AA (p=0.085) or in people without hypoproteinaemia as compared to genotype AA (p=0.644).; Genotype GG is not associated with resistance to clopidogrel in people with hypertension as compared to genotype AA+AG (p=0.104) or in people without hypoproteinaemia as compared to genotype AA (p=0.153).; Please note that alleles have been complemented to the positive strand.","sentence":"Genotype GG is associated with increased resistance to clopidogrel in people with Hypertension as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679442,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"lansoprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *2/*2, *2/*3 or *3/*3 genotype. This was a meta-analysis and included 9 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.","sentence":"CYP2C19 *1/*1 is associated with decreased response to lansoprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC11544447","article_title":"Effect of A118G (rs1799971) single\u2010nucleotide polymorphism of the \u03bc\u2010opioid receptor OPRM1 gene on intraoperative remifentanil requirements in Japanese women undergoing laparoscopic gynecological surgery","article_path":"articles/PMC11544447.md","variant_annotation_id":1452554100,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"acetaminophen","pmid":39093709,"phenotype_category":"Dosage","significance":"yes","notes":"This is after laparoscopic gynecological surgery where there was propofol and remifentanil infusion. \"The number of periodic postoperative acetaminophen doses that were required during 24\u2009h was significantly higher in patients with the AG genotype than the AA genotype (p\u2009=\u20090.039) and in patients with the AG or GG genotype than the AA genotype (p\u2009=\u20090.040; Table 1). Other pain-related phenotypes, including the initial fentanyl bolus dose, PCA fentanyl consumption dose, total postoperative fentanyl dose (Figure 1D), number of patients who required rescue analgesics, and average NRS pain score, were not different among or between patients with any different genotype (Table 1).\"","sentence":"Genotypes AG + GG is associated with increased dose of acetaminophen in women with Pain, Postoperative as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC11354576","article_title":"Pharmacogenetic Approach to Tramadol Use in the Arab Population","article_path":"articles/PMC11354576.md","variant_annotation_id":1452574660,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"tramadol","pmid":39201627,"phenotype_category":"Efficacy","significance":"no","notes":"\"The basal pain score showed a statistically significant difference between subject groups, with the details of OPRM1 G118G for 9.14 and OPRM1 G118A for 8.04 (p < 0.01) in this study (Figure 3). However, such a difference was not observed for the analgesic effect of tramadol (\u0394NRS) between these genotype groups in this study (Table 2).\" \"No homozygous OPRM1 G/G genotype was found in this study.\"","sentence":"Genotype AG is not associated with increased clinical benefit to tramadol in people with Pain, Postoperative as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC8137991","article_title":"Effects of a Common Eight Base Pairs Duplication at the Exon 7-Intron 7 Junction on Splicing, Expression, and Function of OCT1","article_path":"articles/PMC8137991.md","variant_annotation_id":1452527525,"variant_haplotypes":"rs1349294037","gene":"SLC22A1","drugs":"fenoterol","pmid":34025422,"phenotype_category":"Other","significance":"not stated","notes":"\"Even more, the AUC of fenoterol was not higher in homozygous carriers of the rs35854239 duplication allele compared to the wild-type (means of 84.25 vs. 86.84 min \u00d7 ng/ml, respectively; Figure 7B). In comparison, poor OCT1 transporters showed 1.89-fold higher AUCs for fenoterol. This data suggests that compared to the well-known loss-of-function coding variants, the 8 bp duplication shows only limited effects on drugs pharmacokinetics.\" rs35854239 was retired by dbSNP. Authors also described two other rs numbers for this indel (rs113569197 or rs36056065) also retired. We mapped this to 3 possible dbSNP identifiers that all represent indels near the end of exon 7, rs1349294037, rs755473306 and rs2114790299 but none seems to represent exactly the variants depicted in figure 1.","sentence":"Genotype TAAGTTGT/TAAGTTGT is not associated with increased concentrations of fenoterol as compared to genotype del/del.","alleles":"TAAGTTGT/TAAGTTGT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del/del","comparison_metabolizer_types":null} -{"pmcid":"PMC3020258","article_title":"Increased Risk of Vincristine Neurotoxicity Associated with Low CYP3A5 Expression Genotype in Children with Acute Lymphoblastic Leukemia","article_path":"articles/PMC3020258.md","variant_annotation_id":1007118673,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"vincristine","pmid":21225912,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A5 *1/*3 individuals produced significantly more of the M1 vincristine metabolite compared to *3/*3 individuals (1286 +/- 1068 pg/ml vs. 329 +/- 277 pg/ml).; The metabolic ratio of vincristine/M1 was also significantly higher in *3/*3 as compared to *1/*3.","sentence":"CYP3A5 *1/*3 is associated with increased metabolism of vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to CYP3A5 *3/*3.","alleles":"*1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928113,"variant_haplotypes":"rs6280","gene":"DRD3","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The C allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele C is associated with decreased response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3195031","article_title":"Population Pharmacokinetic/Pharmacogenetic Model for Optimization of Efavirenz Therapy in Caucasian HIV-Infected Patients","article_path":"articles/PMC3195031.md","variant_annotation_id":1449157016,"variant_haplotypes":"CYP2B6*1, CYP2B6*2","gene":"CYP2B6","drugs":"efavirenz","pmid":21896912,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2B6 *2 is not associated with concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11159193","article_title":"Phase I study of irinotecan and doxifluridine for metastatic colorectal cancer focusing on the UGT1A1*28 polymorphism","article_path":"articles/PMC11159193.md","variant_annotation_id":1452566620,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"SN-38","pmid":20028383,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with the heterozygous genotype (TA6/TA7) had significantly higher AUC0\u2013\u221e SN\u201038, maximum concentration of SN\u201038, half\u2010life period of SN\u201038, and lower total clearance of SN\u201038 values compared to the wild\u2010type genotype (TA6/TA6). \" \"These data were collected from patients at level 2 at which the irinotecan dose was 100\u2003mg/m2\"","sentence":"UGT1A1 *1/*28 is associated with increased concentrations of SN-38 in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to UGT1A1 *1/*1.","alleles":"*1/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Colorectal Neoplasms, Other:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864562,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP defines CYP2C9*3. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1.","sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5886039","article_title":"Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics","article_path":"articles/PMC5886039.md","variant_annotation_id":1448598925,"variant_haplotypes":"rs7512462","gene":"SLC26A9","drugs":"ivacaftor","pmid":28171547,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients had a gating mutation that caused cystic fibrosis (G551D). Response was measured with change in FEV1.","sentence":"Genotypes CC + CT is associated with increased response to ivacaftor in children with Cystic Fibrosis as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700205,"variant_haplotypes":"rs2898950","gene":"RRM1","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"Less patients with a complete response after the first induction therapy were seen in the AA genotype group. No multiple testing adjustments were performed: 7 SNPs were investigated.","sentence":"Genotypes AC + CC is associated with increased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotype AA.","alleles":"AC + CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184512515,"variant_haplotypes":"rs12505410","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"Individuals with the GG or GT genotype had a higher cumulative incidence of major molecular response (CI-MMR, estimated using Sokal score) after 18 months of treatment with a 400mg/day dose of imatinib, as compared to those with the TT genotype. No significant results were seen when considering patients taking a 600mg/day dose (n=107; p=0.32), though significant results were seen when considering all patients (n=239; p=0.045). The authors note that they used the Benjamini and Hochberg method for multiple testing issues.","sentence":"Genotypes GG + GT is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3360546","article_title":"The Cyclin D1 (CCND1) A870G polymorphism predicts clinical outcome to lapatinib and capecitabine in HER2-positive metastatic breast cancer","article_path":"articles/PMC3360546.md","variant_annotation_id":982010231,"variant_haplotypes":"rs9344","gene":"CCND1","drugs":"lapatinib","pmid":21989330,"phenotype_category":"Efficacy","significance":"no","notes":"The genotype association was not significant in univariate analysis but when looking at A carriers those on capecitabine plus lapatinib did significantly better than those on capecitabine alone whereas for the G homozygotes the outcomes were similar for both drug combinations.","sentence":"Genotypes CA/CA + CA/CG are associated with increased response to lapatinib in women with Breast Neoplasms as compared to genotype CG/CG.","alleles":"CA/CA + CA/CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG/CG","comparison_metabolizer_types":null} -{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107302,"variant_haplotypes":"rs1800888","gene":"ADRB2","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or white patients. Note that this variant was not analyzed in black patients from the INVEST cohort as the minor allele was not detected in these patients.","sentence":"Allele T is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032418,"variant_haplotypes":"rs4358872","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rs1948308, rs2378676, and rs4877900 (r^2>0.7).","sentence":"Genotype GG is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144280,"variant_haplotypes":"rs1521470","gene":"ADCY1","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359440,"variant_haplotypes":"rs11575553","gene":"DDC","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of heroin in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10230242","article_title":"Association between single nucleotide polymorphisms in DNA repair genes and the efficacy of radiotherapy in nasopharyngeal carcinoma patients","article_path":"articles/PMC10230242.md","variant_annotation_id":1452124260,"variant_haplotypes":"rs861539","gene":"XRCC3","drugs":"radiotherapy","pmid":37266339,"phenotype_category":"Efficacy","significance":"no","notes":"alleles complemented compared to what is shown in the paper. Authors state \"Thr241Met polymorphism may act as a prognostic indicator for NPC patients treated with radiotherapy\" as OS was better for heterozygotes.","sentence":"Allele A is not associated with response to radiotherapy in people with Nasopharyngeal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121600,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA or AG genotypes had an increased subjective 'Stimulated' response to oxycodone than subjects with the GG genotype.","sentence":"Genotypes AA + AG are associated with increased response to oxycodone as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446695874,"variant_haplotypes":"rs2305948","gene":"KDR","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"no","notes":"The genotype was not associated with clinical benefit, which was defined as either partial response or stable disease. The genotype was also not associated with progression free survival, or overall survival.","sentence":"Genotype CT is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184513495,"variant_haplotypes":"rs2725252","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"As part of a haplotype with rs12505410. Where response was defined as BCR-ABL/ABL standardized ratio (BCR-ABL^IS) of <=10% at 3 months, <=1% at 12 months and <=0.1% at 18 months. Patients were either taking 400mg/day or 600mg/day dose of imatinib. Those with the G-C haplotype (rs12505410-rs2725252) taking a 400mg/day dose had a significantly better response (under all definitions of response), as compared to those with any other haplotype (i.e. G-A, T-C, T-A). Results were NOT significant for those taking a 600mg/day dose (p=0.209, 0.316 and 0.209, respectively for the different response definitions). Please note that alleles for rs2725252 have been complemented to the plus chromosomal strand.","sentence":"Allele C is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7388522","article_title":"The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder","article_path":"articles/PMC7388522.md","variant_annotation_id":1452054720,"variant_haplotypes":"rs57098334","gene":"SLC6A4","drugs":"sertraline","pmid":32723321,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype (AGCCCACCC)10/(AGCCCACCC)10 is not associated with response to sertraline in people with Panic Disorder as compared to genotype (AGCCCACCC)12/(AGCCCACCC)12.","alleles":"(AGCCCACCC)10/(AGCCCACCC)10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Panic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"(AGCCCACCC)12/(AGCCCACCC)12","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680695,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452241041,"variant_haplotypes":"rs141294036","gene":null,"drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Toxicity","significance":"yes","notes":"as measured by decreased in mean arterial pressure. \"KATP rs141294036 In our study, homozygous carriers of the major allele (CC) produced a bigger absolute value for the percent changes in MAP than those either heterozygous (CT) or homozygous for the minor allele (TT) (\u22129.80 \u00b1 9.40 vs. \u22122.94 \u00b1 9.33, p = 0.032). Homozygosity for the major allele C) of KATP rs141294036 can be inferred to be associated with greater susceptibility to the cardiovascular impact of DXM.\"","sentence":"Genotype CC is associated with increased response to dexmedetomidine in people with surgery as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6891932","article_title":"Effects of SLCO1B1 polymorphisms on plasma estrogen concentrations in women with breast cancer receiving aromatase inhibitors exemestane and letrozole","article_path":"articles/PMC6891932.md","variant_annotation_id":1450934909,"variant_haplotypes":"rs10841753","gene":"SLCO1B1","drugs":"estrone sulfate","pmid":31190621,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"prior to treatment with aromatase inhibitors.","sentence":"Allele C is associated with decreased estrone sulfate in women with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":null,"multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930527,"variant_haplotypes":"rs16872401","gene":null,"drugs":"atenolol","pmid":29650764,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of atenolol in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109703,"variant_haplotypes":"rs72558189","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele A is associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4479596","article_title":"Effect of CYP2B6 Gene Polymorphisms on Efavirenz Plasma Concentrations in Chinese Patients with HIV Infection","article_path":"articles/PMC4479596.md","variant_annotation_id":1448997136,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz","pmid":26107645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC9585281","article_title":"Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention","article_path":"articles/PMC9585281.md","variant_annotation_id":1451930360,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"clopidogrel","pmid":36278153,"phenotype_category":"Efficacy","significance":"no","notes":"\"neither ABCC2 rs2273697 nor ABCC2 rs3740066 polymorphisms affected PAIR% values \"","sentence":"Genotype TT is not associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171049,"variant_haplotypes":"rs3211371","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased concentrations of methadone as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452570006,"variant_haplotypes":"rs16944","gene":"IL1B","drugs":"almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729393,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4432150","article_title":"Influence of ABCC2 and ABCC4 Polymorphisms on Tenofovir Plasma Concentrations in Thai HIV-Infected Patients","article_path":"articles/PMC4432150.md","variant_annotation_id":1444703287,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"tenofovir","pmid":25801567,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes AA + AG is not associated with concentrations of tenofovir in people with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3749570","article_title":"VEGF-A polymorphisms predict progression-free survival among advanced castration-resistant prostate cancer patients treated with metronomic cyclophosphamide","article_path":"articles/PMC3749570.md","variant_annotation_id":1183699124,"variant_haplotypes":"rs699947","gene":"VEGFA","drugs":"cyclophosphamide","pmid":23860526,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant by Bonferroni's correction (p-value set at <0.017). Patients with advanced prostate cancer undergoing metronomic chemotherapy who have the CC genotype were more frequently non-responders to chemotherapy. Responders were classified as patients who had a decrease in prostrate-specific antigen (PSA) of >= 50% and a PSA stabilization of >= 6 months. Patients also received celecoxib and dexamethasone, and some patients received docetaxel-, mitoxantrone-, and vinorelbine-based chemotherapeutic regimens.","sentence":"Genotype CC is not associated with decreased response to cyclophosphamide in people with Prostatic Neoplasms as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC6361127","article_title":"Effects of UGT1A1 Genotype on the Pharmacokinetics, Pharmacodynamics, and Toxicities of Belinostat Administered by 48-Hour Continuous Infusion in Patients With Cancer","article_path":"articles/PMC6361127.md","variant_annotation_id":1447673266,"variant_haplotypes":"UGT1A1*28","gene":"UGT1A1","drugs":"belinostat","pmid":26313268,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in AUC, Cmax, clearance or half-life was seen between the *1/*1 (n=11), *1/*28 (n=11) or *28/*28 (n=3) genotypes, either when considering all patients (n=25) or only those who received a belinostat dose greater than 400 mg/m2/24h (n=15).","sentence":"UGT1A1 *28 is not associated with metabolism of Belinostat in people with Neoplasms.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4581326","article_title":"Effect of Factor XIII-A G185T Polymorphism on Visual Prognosis after Photodynamic Therapy for Neovascular Macular Degeneration","article_path":"articles/PMC4581326.md","variant_annotation_id":1448099841,"variant_haplotypes":"rs5985","gene":"F13A1","drugs":"Photodynamic therapy","pmid":26307969,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles given as reverse strand T and G. Change in measured best-correct visual acuity after 2 years of treatment.","sentence":"Genotypes AA + AC are associated with decreased response to photodynamic therapy in people with Choroidal Neovascularization as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Choroidal Neovascularization","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11003701","article_title":"Escitalopram and sertraline population pharmacokinetic analysis in pediatric patients","article_path":"articles/PMC11003701.md","variant_annotation_id":1452263560,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"escitalopram","pmid":37755681,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"On average, poor and intermediate metabolizers had 69% and 20%; slower CL/F relative to normal metabolizers, respectively,; whereas rapid and ultrarapid metabolizers had 18% and; 23% faster CL/F, respectively\"","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with decreased clearance of escitalopram in children as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3555056","article_title":"Apple juice greatly reduces systemic exposure to atenolol","article_path":"articles/PMC3555056.md","variant_annotation_id":1450943400,"variant_haplotypes":"rs2306168","gene":"SLCO2B1","drugs":"atenolol","pmid":22574741,"phenotype_category":"Metabolism/PK","significance":"no","notes":"both *1/*1 and *3/*3 had similar Cmax and AUC and both were reduced significantly by apple juice.","sentence":"Genotype TT is not associated with increased exposure to atenolol in healthy individuals as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729281,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11264771","article_title":"Effect of MDR1 C3435T and CYP2C19 genetic polymorphisms on the outcome of Helicobacter pylori eradication treatment in children with gastritis and peptic ulcer, Vietnam","article_path":"articles/PMC11264771.md","variant_annotation_id":1452534040,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"Antibiotics, esomeprazole","pmid":39030549,"phenotype_category":"Efficacy","significance":"yes","notes":"\" In the MDR1; C3435T polymorphism analysis, the cure rates for MDR1; 3435T/T were lowest with 68,6%, C/T, and T/T genotypes were 85.4%, and 86.7%, respectively (p=0.02). The; patients with MDR1 3435T/T genotype were 3 times; more likely to fail treatment than MDR1 3435 C/C and; C/T.\" Alleles complemented.","sentence":"Genotype AA is associated with decreased clinical benefit to Antibiotics and esomeprazole in children with Helicobacter Infections as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10990950","article_title":"Effects of CYP2D6 gene polymorphism on plasma concentration and therapeutic effect of olanzapine","article_path":"articles/PMC10990950.md","variant_annotation_id":1452437360,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10, CYP2D6*34, CYP2D6*39, CYP2D6*65","gene":"CYP2D6","drugs":"olanzapine","pmid":38576571,"phenotype_category":"Metabolism/PK","significance":"no","notes":"*10/*65 was labeled as \"Unknowns\" for metabolizer phenotype. \"The EMs group showed a trend of lower olanzapine plasma concentrations and C/D ratios than the IMs group at different time points (Fig. 1A and B). Interestingly, the olanzapine concentration in the Unknowns group exhibited a noticeable decrease at 8 weeks, leading to a lower trend of concentrations compared to the other two groups (Fig. 1A and B). However, the difference was not statistically significant.\"\"The results showed no significant differences in plasma olanzapine concentrations, treatment response, or the occurrence of adverse effects among different CYP2D6 genotypes\"","sentence":"CYP2D6 *10/*65 is associated with decreased concentrations of olanzapine in people with Schizophrenia as compared to CYP2D6 *1/*1 + *1/*34 + *1/*39 + *2/*2 + *2/*34 + *2/*39 + *10/*39 + *39/*39 (assigned as normal metabolizer phenotype) .","alleles":"*10/*65","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*34 + *1/*39 + *2/*2 + *2/*34 + *2/*39 + *10/*39 + *39/*39","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479756,"variant_haplotypes":"rs9306356","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188634,"variant_haplotypes":"rs7643038","gene":"NR1I2","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The G allele is associated with longer half-life of methotrexate.","sentence":"Allele G is associated with decreased metabolism of methotrexate in children with Osteosarcoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928209,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3172251","article_title":"IL28B, HLA-C, and KIR Variants Additively Predict Response to Therapy in Chronic Hepatitis C Virus Infection in a European Cohort: A Cross-Sectional Study","article_path":"articles/PMC3172251.md","variant_annotation_id":1448996035,"variant_haplotypes":"HLA-C*01:02, HLA-C*02:02, HLA-C*03:02, HLA-C*04:01, HLA-C*05:01, HLA-C*06:02, HLA-C*07:01, HLA-C*08:01, HLA-C*12:02, HLA-C*14:02, HLA-C*15:02, HLA-C*16:01, HLA-C*17:01","gene":"HLA-C","drugs":"peginterferon alfa-2b, ribavirin","pmid":21931540,"phenotype_category":"Efficacy","significance":"yes","notes":"HLA-C alleles are grouped in the paper as C1 and C2. C1 alleles are written as Cw*01, Cw*03, Cw*07, Cw*08, Cw*12, Cw*14 and Cw*16. C2 alleles are written as Cw*02, Cw*04, Cw*05, Cw*06, Cw*15 and Cw*17. The authors state that patients who are homozygous for HLA-C2 (i.e. they have two alleles from group C2) are less likely to clear hepatitis C virus upon treatment than patients who are HLA-C1 homozygous or are HLA-C1/C2 heterozygous.","sentence":"HLA-C *02:02 + *04:01 + *05:01 + *06:02 + *15:02 + *17:01 is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to HLA-C *01:02:01 + *03:02 + *07:01:01 + *08:01 + *12:02:01 + *14:02:01 + *16:01:01.","alleles":"*02:02 + *04:01 + *05:01 + *06:02 + *15:02 + *17:01","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*01:02:01 + *03:02 + *07:01:01 + *08:01 + *12:02:01 + *14:02:01 + *16:01:01","comparison_metabolizer_types":null} -{"pmcid":"PMC7497848","article_title":"Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer","article_path":"articles/PMC7497848.md","variant_annotation_id":1449146792,"variant_haplotypes":"rs9394992","gene":"SLC29A1","drugs":"tipiracil hydrochloride, trifluridine","pmid":28992563,"phenotype_category":"Efficacy","significance":"yes","notes":"The SNP was tested for association alone and with three other SNPs after univariate and multivariate analysis in a training (N= 52, Japan) and testing cohorts (N = 127, Italy). Although it remained significantly associated with progression-free and overall survival in univariate and multivariate analysis in the training cohort, it was not significant in the testing cohort.","sentence":"Genotypes CT + TT is associated with increased response to tipiracil hydrochloride and trifluridine in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4012056","article_title":"Determination of the Most Influential Sources of Variability in Tacrolimus Trough Blood Concentrations in Adult Liver Transplant Recipients: A Bottom-Up Approach","article_path":"articles/PMC4012056.md","variant_annotation_id":1184470918,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":24526611,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Liver DONOR genotype.","sentence":"CYP3A5 *1/*3 is associated with increased clearance of tacrolimus in people with liver transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922780,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"paclitaxel","pmid":22527101,"phenotype_category":"Efficacy","significance":"yes","notes":"Response = complete clinical response (cCR). 55% cCR vs 23%. Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel.","sentence":"CYP2C8 *1/*3 + *3/*3 is associated with increased response to paclitaxel in women with Breast Neoplasms as compared to CYP2C8 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4616511","article_title":"Combined Effects of 2 Interleukin 28B Polymorphisms on the Therapeutic Outcome of Hepatitis C Patients With Circulating Cryoglobulins","article_path":"articles/PMC4616511.md","variant_annotation_id":1447951883,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"interferons, ribavirin","pmid":26334898,"phenotype_category":"Efficacy","significance":"yes","notes":"Measured according to impact on sustained virological response. Significant only in non-cryoglobulinemic patients. Not significant in cryoglobulinemic patients. CC to CT p = 0.023; CC to TT p = 0.017.","sentence":"Genotype CC is associated with increased response to interferons and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896157,"variant_haplotypes":"rs910039","gene":"CAP2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896227,"variant_haplotypes":"rs72772787","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121728,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele T is not associated with response to oxycodone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8530979","article_title":"Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment\u2010Resistant Epilepsy","article_path":"articles/PMC8530979.md","variant_annotation_id":1451553150,"variant_haplotypes":"rs1339067","gene":"SLC15A1","drugs":"cannabidiol","pmid":34464454,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased response to cannabidiol in people with Epilepsy as compared to genotypes AA + AT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} -{"pmcid":"PMC9819208","article_title":"Impact of ABCC2 1249G>A and \u221224C>T Polymorphisms on Lacosamide Efficacy and Plasma Concentrations in Uygur Pediatric Patients With Epilepsy in China","article_path":"articles/PMC9819208.md","variant_annotation_id":1451921140,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"lacosamide","pmid":36253887,"phenotype_category":"Efficacy","significance":"yes","notes":"\"the proportion of patients with the ABCC2 1249G>A (rs2273697) A; allele and ABCC2 -24C>T (rs717620) T allele in the drug-resistant group was; significantly higher than that in the drug-responsive group\"","sentence":"Allele A is associated with increased resistance to lacosamide in children with Epilepsy as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6493375","article_title":"ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients","article_path":"articles/PMC6493375.md","variant_annotation_id":827921760,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"antiepileptics","pmid":22630058,"phenotype_category":"Efficacy","significance":"no","notes":"However, a haplotype of TGT (ABCC2 -24C>T/ABCC2 1249G>A/ABCC2 3972C>T) was found at significantly higher frequencies in resistant patients compared to responsive patients.","sentence":"Allele G is not associated with increased resistance to antiepileptics in people with Epilepsy as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448432548,"variant_haplotypes":"rs6498588","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AT + TT are associated with increased exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3871508","article_title":"Correlation of N-Acetyltransferase 2 Genotype with Isoniazid Acetylation in Polish Tuberculosis Patients","article_path":"articles/PMC3871508.md","variant_annotation_id":1183702439,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*16","gene":"NAT2","drugs":"isoniazid","pmid":24383060,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Originally annotated as NAT2 *5A/*5A + *5A/*6B + *6B/*6B + *6B/*7A + *7A/*7A (assigned as slow acetylator phenotype). Slow acetylators (a combination of two slow alleles NAT2*5, *6 or *7) had higher isoniazid plasma concentrations and bioavailability compared to rapid (*4/*4) and intermediate acetylators (*4 allele combined with *5, *6 or *7). Patients with *7/*7 genotype had the highest levels. Authors report \"To identify the three NAT2* mutations, C481T (NAT2*5), G590A (NAT2*6), and G857A (NAT2*7)\"; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles in this annotation is mapped as following: NAT2*5A under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *16/*16 + *16/*6 + *6/*6 + *6/*7 + *7/*7 (assigned as slow acetylator phenotype) is associated with decreased metabolism of isoniazid in people with Tuberculosis as compared to NAT2 *4/*4 (assigned as rapid acetylator phenotype) .","alleles":"*16/*16 + *16/*6 + *6/*6 + *6/*7 + *7/*7","specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*4/*4","comparison_metabolizer_types":"rapid acetylator"} -{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164060,"variant_haplotypes":"VKORC1 low activity","gene":"VKORC1","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"yes","notes":"Mean dose (in mg) of warfarin according to activity phenotype was: High Activity (HA)>Intermediate Activity (IA)>Poor Activity (PA). Activity phenotype was based on presence of VKORC1*2, *3 and *4. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"VKORC1 low activity is associated with decreased dose of warfarin.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6587626","article_title":"MMP-2 and MMP-9 gene polymorphisms act as biological indicators for ulinastatin efficacy in patients with severe acute pancreatitis","article_path":"articles/PMC6587626.md","variant_annotation_id":1451144564,"variant_haplotypes":"rs243865","gene":"MMP2","drugs":"ulinastatin","pmid":31192912,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased response to ulinastatin in people with Pancreatitis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pancreatitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3633658","article_title":"Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration (AMD) in the Comparison of AMD Treatments Trials (CATT)","article_path":"articles/PMC3633658.md","variant_annotation_id":1183491593,"variant_haplotypes":"rs11200638","gene":"HTRA1","drugs":"bevacizumab, ranibizumab","pmid":23337555,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in mean visual acuity (units = letters), mean visual acuity change from baseline (units = letters), >= 15-letter increase from baseline (%), mean number of injections, retinal thickness (%, units = um), mean change in total foveal thickness from baseline (units = um), dry on optical coherence tomography (%), leakage on fluorescein angiography (%) or mean change in lesion size from baseline (units = disc area) after 1 year of treatment were seen between genotypes. p <= 0.01 was considered statistically significant to adjust for multiple comparisons.","sentence":"Genotype AA is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3753327","article_title":"Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model","article_path":"articles/PMC3753327.md","variant_annotation_id":1183697697,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":23990957,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP was presented as CYP4F2 1297G>A. Patients with the TT allele showed significantly higher doses of warfarin as compared to patients carrying the wildtype allele, C. However, this effect was small as the difference in dose between wildtype (CC) and homozygous variant (TT) genotypes was 0.6 mg/day.","sentence":"Genotypes CC + CT is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681665,"variant_haplotypes":"rs1544938","gene":"ADCY2","drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In high severity schizophrenia patient subgroup","sentence":"Allele C is associated with increased response to antipsychotics in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10758687","article_title":"Dosing strategies for de novo once-daily extended release tacrolimus in kidney transplant recipients based on CYP3A5 genotype","article_path":"articles/PMC10758687.md","variant_annotation_id":1452345200,"variant_haplotypes":"CYP3A5*1","gene":"CYP3A5","drugs":"tacrolimus","pmid":38174147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A5 variants tested: \"CYP3A5*3 (rs776746), CYP3A5*6 (rs10264272), and CYP3A5*7 (rs41303343)\". \"Mean time to therapeutic tacrolimus trough concentration was longer in CYP3A5 intermediate and extensive metabolizers compared to CYP3A5 non-expressers\"","sentence":"CYP3A5 *1 is associated with increased time to response to tacrolimus in people with Kidney Transplantation.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162751,"variant_haplotypes":"rs16840252","gene":"CTLA4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This SNP is a proxy for rs4553808. Authors described association as suggestive in the AA population but it did not survive multiple testing correction and the authors did not state which allele was the associated allele.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2432487","article_title":"Effect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians","article_path":"articles/PMC2432487.md","variant_annotation_id":1183623411,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"omeprazole, pantoprazole","pmid":18241283,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant differences in area under the concentration-time curve (AUC) were seen between the two genotypes in subjects taking omeprazole (20 mg/day) or pantoprazole (40 mg/day). Subjects were treated with either drug for 6 days, in a crossover fashion; AUC was measured on day 1 and day 6 after initiation of treatment.","sentence":"CYP2C19 *1/*1 is not associated with metabolism of omeprazole or pantoprazole in healthy individuals as compared to CYP2C19 *1/*17.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*17","comparison_metabolizer_types":null} -{"pmcid":"PMC7308427","article_title":"Polymorphisms of SLC19A1 80 G>A, MTHFR 677 C>T, and Tandem TS Repeats Influence Pharmacokinetics, Acute Liver Toxicity, and Vomiting in Children With Acute Lymphoblastic Leukemia Treated With High Doses of Methotrexate","article_path":"articles/PMC7308427.md","variant_annotation_id":1451552740,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":32612964,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"SNP is referred to in the paper as 80 G>A and was mapped to rs1051266 by PharmGKB. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is associated with increased steady-state concentration of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438651,"variant_haplotypes":"rs7902657","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6.0E-7.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5795999","article_title":"Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population","article_path":"articles/PMC5795999.md","variant_annotation_id":1452362421,"variant_haplotypes":"rs9462535","gene":"KIF6","drugs":"hmg coa reductase inhibitors","pmid":29295555,"phenotype_category":"Efficacy","significance":"no","notes":"With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.","sentence":"Genotypes AC + CC are not associated with response to hmg coa reductase inhibitors as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5074472","article_title":"Pharmacokinetics of Bupropion and Its Pharmacologically Active Metabolites in Pregnancy","article_path":"articles/PMC5074472.md","variant_annotation_id":1448257532,"variant_haplotypes":"CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"bupropion","pmid":27528039,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C19 *2 + *3 (assigned as intermediate metabolizer and poor metabolizer phenotype) are associated with decreased metabolism of bupropion in women with Pregnancy as compared to CYP2C19 *17 (assigned as normal metabolizer phenotype) .","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*17","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC9890192","article_title":"Associations between CES1 variants and dosing and adverse effects in children taking methylphenidate","article_path":"articles/PMC9890192.md","variant_annotation_id":1452009380,"variant_haplotypes":"rs4122238","gene":"CES1","drugs":"methylphenidate","pmid":36741090,"phenotype_category":"Dosage","significance":"no","notes":"Authors never explicitly state which allele is associated with lower dose but do show that it is major allele in figure 5. The frequencies in gnomAD for all populations show G as major allele and A as minor allele. This was not significant after Benjamini-Hochberg correction for multiple hypothesis testing which the authors state \"may be too stringent\".","sentence":"Genotypes AG + GG is associated with decreased dose of methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3944116","article_title":"Effect of CYP3A4*22, CYP3A5*3, and CYP3A Combined Genotypes on Cyclosporine, Everolimus, and Tacrolimus Pharmacokinetics in Renal Transplantation","article_path":"articles/PMC3944116.md","variant_annotation_id":1184470953,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"cyclosporine, everolimus","pmid":24522145,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 *1/*1 + *1/*3 is not associated with clearance of cyclosporine or everolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113700,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4828529","article_title":"Influence of genetic polymorphisms in the folate pathway on toxicity after high-dose methotrexate treatment in pediatric osteosarcoma","article_path":"articles/PMC4828529.md","variant_annotation_id":1451546960,"variant_haplotypes":"rs2372536","gene":"ATIC","drugs":"methotrexate","pmid":27104192,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with concentrations of methotrexate in children with Osteosarcoma as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501871,"variant_haplotypes":"rs4688040","gene":"NR1I2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in the whole cohort. As measured by a higher carbamazepine-10-11 epoxide: carbamazepine ratio.","sentence":"Allele T is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5370513","article_title":"Predictive Value of UGT1A1*28 Polymorphism In Irinotecan-based Chemotherapy","article_path":"articles/PMC5370513.md","variant_annotation_id":1451213340,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":28367249,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis of studies of Asian subjects with lung cancer (small-cell and non-small cell) from China, Korea, and Japan treated with irinotecan-based chemotherapy.","sentence":"UGT1A1 *1/*28 + *28/*28 is not associated with increased response to irinotecan in people with Lung Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3952719","article_title":"The PlA1/A2 polymorphism of glycoprotein IIIa in relation to efficacy of antiplatelet drugs: a systematic review and meta-analysis","article_path":"articles/PMC3952719.md","variant_annotation_id":1184989701,"variant_haplotypes":"rs5918","gene":"ITGB3","drugs":"aspirin, clopidogrel","pmid":23834376,"phenotype_category":"Efficacy","significance":"no","notes":"Allele C = PIA2, allele T = PIA1.","sentence":"Allele C is not associated with resistance to aspirin or clopidogrel as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6246957","article_title":"Fc\u2010gamma receptor polymorphisms, cetuximab therapy, and overall survival in the CCTG CO.20 trial of metastatic colorectal cancer","article_path":"articles/PMC6246957.md","variant_annotation_id":1449752258,"variant_haplotypes":"rs1801274","gene":"FCGR2A","drugs":"cetuximab","pmid":30318772,"phenotype_category":"Efficacy","significance":"yes","notes":"Overall survival and progression-free survival were used as indicators of response to cetuximab.","sentence":"Genotype AA is associated with increased response to cetuximab in people with Colorectal Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003196,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"oxymorphone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The AUC for oxymorphone was significantly lower in poor metabolizers than in ultrarapid metabolizers.","sentence":"CYP2D6 poor metabolizer is associated with decreased exposure to oxymorphone in healthy individuals as compared to CYP2D6 ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"ultrarapid metabolizer"} -{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823747,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"no association with PK parameters area under the concentration time curve or apparent oral clearance of the drug. [stat_test: univariate and multiple linear regression]","sentence":"Genotype CC is not associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896151,"variant_haplotypes":"rs2566255","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003337,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: TC+TT (0.45 (0.09\u201341.63)) vs. CC 1.1. (0.15\u20137.53)).","sentence":"Genotypes CT + TT are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982037980,"variant_haplotypes":"rs3135506","gene":"APOA5","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of the C allele had greater decreases in plasma triglyceride (TG) and high-density lipoprotein (HDL) levels over 3 weeks of treatment, as compared to GG homozygotes.","sentence":"Genotypes CC + CG are associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163258,"variant_haplotypes":"rs4149117","gene":"SLCO1B3","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the AA population but it did not survive multiple testing correction and the authors did not state which allele was the associated allele.","sentence":"Allele G is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10377184","article_title":"DRD2, DRD3, and HTR2A Single-Nucleotide Polymorphisms Involvement in High Treatment Resistance to Atypical Antipsychotic Drugs","article_path":"articles/PMC10377184.md","variant_annotation_id":1452200400,"variant_haplotypes":"rs1799732","gene":"DRD2","drugs":"antipsychotics","pmid":37509727,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Furthermore, the DRD2 rs1799732 I|I vs. D|I genotype significantly predicted the; HTR group membership (OR = 12.079; B = 2.491; p = 0.037) (Table 3).\"","sentence":"Allele G is associated with increased resistance to antipsychotics in people with Mood Disorders or Schizophrenia as compared to allele del.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mood Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC4304713","article_title":"Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses","article_path":"articles/PMC4304713.md","variant_annotation_id":1444694056,"variant_haplotypes":"rs2952768","gene":null,"drugs":"fentanyl","pmid":25615449,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.","sentence":"Genotype CC is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4757974","article_title":"Tafenoquine treatment of Plasmodium vivax malaria: suggestive evidence that CYP2D6 reduced metabolism is not associated with relapse in the Phase 2b DETECTIVE trial","article_path":"articles/PMC4757974.md","variant_annotation_id":1447954841,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"tafenoquine","pmid":26888075,"phenotype_category":"Efficacy","significance":"no","notes":"Please not patients are co-treated with chloroquine. No evidence of association between CYP2D6 IM phenotype and increased frequency of clinical relapse of P. vivax infection was seen in either of the TQ treatment groups. Genotyped with Affymetrix\u00ae DMET-Plus array. Phenotype grouping: poor metabolizers two no function alleles; intermediate metabolizers (IM) one null and one decreased function allele or two decreased function alleles, or one null allele and one normal allele; extensive metabolizers (EM) if they carried two normal alleles or one normal allele and one deficient allele.","sentence":"CYP2D6 *4/*41 + *1/*4 + *10/*10 + *10/*41 + *2/*4 + *41/*41 is not associated with decreased response to tafenoquine in people with Malaria as compared to CYP2D6 *1/*10 + *1/*41 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2.","alleles":"*4/*41 + *1/*4 + *10/*10 + *10/*41 + *2/*4 + *41/*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Malaria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*10 + *1/*41 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002940,"variant_haplotypes":"rs11045879","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10995391","article_title":"Effect of NAT2, GSTM1 and CYP2E1 genetic polymorphisms on plasma concentration of isoniazid and its metabolites in patients with tuberculosis, and the assessment of exposure-response relationships","article_path":"articles/PMC10995391.md","variant_annotation_id":1452443262,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"isoniazid","pmid":38584604,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"More specifically, INH AUC0\u20136h and INH Cmax; values were significantly higher, while AcINH AUC0\u20136h values were; significantly lower in NAT2 slow acetylators. Also, median values of; both AcINH/INH and INA/INH ratios were significantly lower in; the NAT2 SA group.\" \"A 1211-bp fragment, which contains the entire coding region of; NAT2 was amplified by PCR\" alleles were assigned using the Greek nomenclature database. \"individuals were; classified as rapid (carrying two rapid NAT2 alleles), intermediate; (one rapid and one slow allele) or slow (two slow alleles) acetylators.\" No fast acetylators were observed.","sentence":"NAT2 slow acetylator is associated with increased concentrations of isoniazid in people with Tuberculosis as compared to NAT2 intermediate acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate acetylator"} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558033,"variant_haplotypes":"rs162040","gene":"MTRR","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184756163,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"yes","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\" rs7294 remained significantly associated with warfarin maintenance dose in the multivariate analysis.","sentence":"Allele T is associated with increased dose of warfarin in people with heart valve replacement as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2911553","article_title":"CYP4F2 rs2108622: a minor significant genetic factor of warfarin dose in Han Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC2911553.md","variant_annotation_id":981483967,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":20653676,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"3.2 mg/day vs. 2.9 mg/day. There were only 15 TT patients.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin in people with mechanical heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:mechanical heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827786999,"variant_haplotypes":"rs7975","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the slowest clearance and the highest urinary excretion of unmetabolized C(13)-DCA was observed for a subject homozygous for G for rs7975,G for rs7972, T for rs1046428.","sentence":"Allele G is associated with decreased clearance of dichloroacetic acid in children with Mitochondrial Diseases.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Mitochondrial Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5483245","article_title":"Independent and interactive effects of OPRM1 and DAT1 polymorphisms on alcohol consumption and subjective responses in social drinkers","article_path":"articles/PMC5483245.md","variant_annotation_id":1450826481,"variant_haplotypes":"rs28363170","gene":"SLC6A3","drugs":"ethanol","pmid":28376280,"phenotype_category":"Toxicity","significance":"yes","notes":"This variant is a VNTR; the 'del' allele represented the 9-repeat allele, while the 'GGG...' allele represents the 10-repeat allele. Subjects with the 9-repeat allele had a significantly increased odds ratio for reporting more drinking days compared to subjects carrying the 10-repeat allele. The authors note an epistatic effect, where the presence of the rs1799971 G allele in OPRM1 reduced the effect of the 9-repeat allele on the number of drinking days. There was no significant association between rs28363170 and number of drinks per drinking day or number of heavy drinking days.","sentence":"Allele del is associated with increased exposure to ethanol in healthy individuals as compared to allele GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT","comparison_metabolizer_types":null} -{"pmcid":"PMC11134291","article_title":"Variability in plasma rifampicin concentrations and role of SLCO1B1, ABCB1, AADAC2 and CES2 genotypes in Ethiopian patients with tuberculosis","article_path":"articles/PMC11134291.md","variant_annotation_id":1452376780,"variant_haplotypes":"rs1803155","gene":"AADAC","drugs":"rifampin","pmid":38315168,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"We found a significant association between AADAC c.841G>A genotype and rifampicin Cmax, which was sig-nificantly higher in carriers of the mutant variant allele (A/A, G/A) than in those with wild-type G/G genotype\" \"AADAC c.841GG and ABCB1 c.4036A>GAA genotype groups and male patients had a higher risk of low rifampicin plasma exposure than females.\"","sentence":"Genotype GG is associated with decreased exposure to rifampin in people with Tuberculosis as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359100,"variant_haplotypes":"rs1611114","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele T is not associated with response to heroin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4694426","article_title":"Relationships of related genetic polymorphisms and individualized medication of tacrolimus in patients with renal transplantation","article_path":"articles/PMC4694426.md","variant_annotation_id":1447946634,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26770526,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A5*3 was positively correlated with tacrolimus dose-adjusted trough concentrations (C/D). In multiple regression analysis, the factors with statistical significance toward C/D were CYP3A5*3, hematocrit and albumin. CYP3A5*3 explained 23.5% of individual variations in C/D, followed by hematocrit (3.3%) and albumin (1.5%).","sentence":"CYP3A5 *3 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375622,"variant_haplotypes":"rs2725215","gene":"PKD2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele T is associated with decreased response to allopurinol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2709885","article_title":"Genetic variation of CYP2C19 affects both pharmacokinetic and pharmacodynamic responses to clopidogrel but not prasugrel in aspirin-treated patients with coronary artery disease","article_path":"articles/PMC2709885.md","variant_annotation_id":1184469950,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17","gene":"CYP2C19","drugs":"prasugrel","pmid":19429918,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"VASP platelet reactivity index and VerifyNow(TM) P2Y12 reaction unit values were not significantly different in PM than in EM patients. Patients were also treated with aspirin. There were 35 EM (by genotype) and 15 PM (by genotype). Dosage was 600 mg loading/75 mg maintenance.","sentence":"CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is not associated with response to prasugrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*8 + *2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC11668066","article_title":"Associations Between the Polymorphisms in the Coding Sequence of SLCO1B1 and Blood Lipid Levels Before and After Treatment by Atorvastatin in the Chinese Han Adults with Dyslipidemia","article_path":"articles/PMC11668066.md","variant_annotation_id":1452798260,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"atorvastatin","pmid":39720770,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The effects of different genotypes of rs2306283 on the normalized differences in TC and TG levels before and after treatment were assessed after adjusting for other factors, with results shown in Figure 4. As shown in Figure 4, the therapeutic effect was worse in individuals with the rs2306283 GG genotype compared to those with the AA genotype in terms of TC and TG reduction.\"","sentence":"Genotype GG is associated with decreased clinical benefit to atorvastatin in people with Hyperlipidemias as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449716014,"variant_haplotypes":"rs3845744","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271267,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between genotypes. Subsequent pairwise analysis resulted in a nominally significant association for the GG genotype compared to the AA genotype in the methadone group and the total cohort, but not in the buprenorphine group.","sentence":"Genotype AA is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10810687","article_title":"Association of Pharmacogenetic Markers With Atazanavir Exposure in HIV-Infected Women","article_path":"articles/PMC10810687.md","variant_annotation_id":1451111080,"variant_haplotypes":"rs73208473","gene":"SORCS2","drugs":"atazanavir","pmid":31562781,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant had a statistically significant association with decrease in atazanavir exposure in plasma in African American (AA) participants (fold effect:0.54). The median oral clearances in AA participants\u2019 homozygous and heterozygous for the reference allele of rs73208473 were 8.73 and 14.3 L/hour, respectively.","sentence":"Allele A is associated with decreased exposure to atazanavir in women with HIV Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6987567","article_title":"The effect of the OPRM1 and DRD4 polymorphisms on the relation between attentional bias and alcohol use in adolescence and young adulthood","article_path":"articles/PMC6987567.md","variant_annotation_id":1450814162,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":22436571,"phenotype_category":"Dosage","significance":"yes","notes":"The G allele was significantly associated with increased frequency and quantity of alcohol use in adolescents.","sentence":"Allele G is associated with increased dose of ethanol in children as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907896,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with metabolism of cyclophosphamide in people with as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491516,"variant_haplotypes":"rs4551053","gene":"EBF1","drugs":"hydrochlorothiazide","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Proxy for rs11953630. Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele G is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162909,"variant_haplotypes":"rs1524107","gene":"IL6","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the EA population but it did not survive multiple testing correction. Direction of effect not stated. This is a proxy for rs1800796.","sentence":"Allele C is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3865618","article_title":"Association of Genetic Polymorphisms with Warfarin Dose Requirements in Chinese Patients","article_path":"articles/PMC3865618.md","variant_annotation_id":1184482810,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":23941071,"phenotype_category":"Dosage","significance":"yes","notes":"\"The mean warfarin dose in patients with the CYP2C9 rs1057910AA genotype was 3.34 mg/day, which was higher than that in patients with the CYP2C9 rs1057910CC genotype (0.81 mg/day).\"","sentence":"Genotypes AA + AC is associated with increased dose of warfarin as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629560,"variant_haplotypes":"CYP2D6*4, CYP2D6*6","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 2 of these 46 were *4/*6.","sentence":"CYP2D6 *4/*6 is associated with decreased metabolism of debrisoquine or dextromethorphan.","alleles":"*4/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9701885","article_title":"Association between rs1799971 in the mu opioid receptor gene and methadone maintenance treatment response","article_path":"articles/PMC9701885.md","variant_annotation_id":1451927260,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":36305091,"phenotype_category":"Efficacy","significance":"no","notes":"not significant in any model (recessive/dominant/additive/allelic) in primary study nor in meta-analysis.","sentence":"Allele A is not associated with increased clinical benefit to methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5079351","article_title":"The use of ivacaftor in CFTR mutations resulting in residual functioning protein","article_path":"articles/PMC5079351.md","variant_annotation_id":1448423827,"variant_haplotypes":"rs77932196","gene":"CFTR","drugs":"ivacaftor","pmid":27812499,"phenotype_category":"Efficacy","significance":"yes","notes":"Investigation of ivacaftor treatment in patients with CFTR variants conferring residual CFTR function, comparing patients with ivacaftor treatment to those without. Genotypes of the patients receiving ivacaftor were R347P/L1065P, 2789+5G/R1066C, S912X/D579G, S912X/D579G, del F508/R352Q, G542X/D1152H, and W1282W/D1152H. The outcomes measured were FEV1 %predicted, increase in BMI, CFQ-R, and number of exacerbations.","sentence":"Allele A is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567661,"variant_haplotypes":"rs7412","gene":"APOE","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased dose of warfarin in people with heart valve replacement as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811607,"variant_haplotypes":"rs2032583","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3865618","article_title":"Association of Genetic Polymorphisms with Warfarin Dose Requirements in Chinese Patients","article_path":"articles/PMC3865618.md","variant_annotation_id":1184482814,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":23941071,"phenotype_category":"Dosage","significance":"yes","notes":"The mean warfarin dose in patients with the GGCX rs699664 TT genotype was 3.51mg/day, which was higher than that in patients with the GGCX rs699664 CC genotype (3.09 mg/day).","sentence":"Genotypes CT + TT is associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC8106923","article_title":"Weight-loss response to naltrexone/bupropion is modulated by the Taq1A genetic variant near DRD2 (rs1800497): A pilot study","article_path":"articles/PMC8106923.md","variant_annotation_id":1451566720,"variant_haplotypes":"rs1800497","gene":"ANKK1, DRD2","drugs":"bupropion, naltrexone","pmid":33236485,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with a baseline body mass index (BMI) of 27-45 were recruited. Those carrying the A allele had a greater mean weight-loss percentage and were more likely to be classed as responders to buproprion/naltrexone.","sentence":"Genotypes AA + AG are associated with increased response to bupropion and naltrexone in people with Obesity as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Obesity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935701,"variant_haplotypes":"rs761895497","gene":"CYP2C9","drugs":"tolbutamide","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of tolbutamide by CYP2C9 protein containing the C allele was 43.6% of that of the WT protein. Variant referred to as 791T>C in the paper.","sentence":"Allele C is associated with decreased clearance of tolbutamide as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4243881","article_title":"Effect of UGT1A1, UGT1A3, DIO1 and DIO2 polymorphisms on L-thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer","article_path":"articles/PMC4243881.md","variant_annotation_id":1184990082,"variant_haplotypes":"rs11206244","gene":"DIO1","drugs":"levothyroxine","pmid":24910925,"phenotype_category":"Dosage","significance":"no","notes":"This SNP was not associated with dose in univariate regression.","sentence":"Allele T is not associated with dose of levothyroxine in people with Thyroid Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Thyroid tumor","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3425006","article_title":"The C Allele of ATM rs11212617 Does Not Associate With Metformin Response in the Diabetes Prevention Program","article_path":"articles/PMC3425006.md","variant_annotation_id":978614975,"variant_haplotypes":"rs11212617","gene":"C11orf65","drugs":"metformin","pmid":22751958,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"in people with impaired glucose tolerance. No significant differences found in metformin's effects on insulin sensitivity, fasting glucose,glycated hemoglobin or disposition index.","sentence":"Allele C is not associated with increased response to metformin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4160394","article_title":"CYP3A4*22 and CYP3A5*3 are associated with increased levels of plasma simvastatin concentrations in the cholesterol and pharmacogenetics study cohort","article_path":"articles/PMC4160394.md","variant_annotation_id":1184746928,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"simvastatin","pmid":25051018,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A4*22 carriers had 170% higher concentrations of simvastatin lactone than did; noncarriers (P< 0.01), but no significant difference was; detected for concentrations of simvastatin acid.","sentence":"CYP3A4 *1/*22 + *22/*22 is associated with concentrations of simvastatin as compared to CYP3A4 *1/*1.","alleles":"*1/*22 + *22/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4343187","article_title":"CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy","article_path":"articles/PMC4343187.md","variant_annotation_id":1445402071,"variant_haplotypes":"rs1044396","gene":"CHRNA4","drugs":"varenicline","pmid":25774163,"phenotype_category":"Efficacy","significance":"yes","notes":"CC genotype had lower success rate when in treatment with varenicline (29.5%) compared with patients with CT or TT genotypes.","sentence":"Genotype GG is associated with decreased response to varenicline in people with Tobacco Use Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4229256","article_title":"IL28B Polymorphism Cannot Predict Response to Interferon Alpha Treatment in Patients with Melanoma","article_path":"articles/PMC4229256.md","variant_annotation_id":1444665914,"variant_haplotypes":"rs12979860","gene":"IFNL3","drugs":"interferon alfa-2b, recombinant","pmid":25389973,"phenotype_category":"Efficacy","significance":"no","notes":"The CC genotype at rs12979860 was not associated with either overall or progression free survival (PFS).","sentence":"Genotype CC is not associated with response to interferon alfa-2b, recombinant in people with Melanoma as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Melanoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954065,"variant_haplotypes":"rs228729","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4833149","article_title":"The pharmacokinetic and pharmacodynamic interaction of clopidogrel and cilostazol in relation to CYP2C19 and CYP3A5 genotypes","article_path":"articles/PMC4833149.md","variant_annotation_id":1446907223,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":26426352,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"either when clopidogrel was administered alone or in combination with cilostazole. The authors observed no differences in AUC (ng*hr/ml) or Cmax (ng/ml) values of clopidogrel thiol metabolite when comparing within the same metabolizer group [extensive (CYP2C19 *1/*1), intermediate (CYP2C19 *1/*2, *1/*3), and poor (CYP2C19 *2/*2, *2/*3, *3/*3)] but between treatment groups. Differences in clopidogrel thiol metabolite concentrations were only observed when comparing between CYP2C19 metabolizer groups.","sentence":"CYP2C19 *2 + *3 are associated with decreased metabolism of clopidogrel in healthy individuals as compared to CYP2C19 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821476,"variant_haplotypes":"rs1718136","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use.","sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10778798","article_title":"Serum Calretinin and Genetic Variability as a Prognostic and Predictive Factor in Malignant Mesothelioma","article_path":"articles/PMC10778798.md","variant_annotation_id":1452353300,"variant_haplotypes":"rs3807348","gene":"MIR335","drugs":"cisplatin","pmid":38203360,"phenotype_category":"Efficacy","significance":"yes","notes":"\"When analyzing the effect of selected polymorphisms on the treatment response rate (Table 4), carriers of at least one MIR335 rs3807348 polymorphic allele had a significantly better response (OR = 2.41, 95% CI = 1.19\u20134.87, p = 0.015), even after adjusting for clinical factors (OR = 2.69, 95% CI = 1.17\u20136.18, p = 0.020).\"","sentence":"Genotypes AA + AG is associated with increased response to cisplatin in people with Mesothelioma as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mesothelioma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757070,"variant_haplotypes":"rs12065184","gene":"MPZ","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele C is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4484512","article_title":"Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis","article_path":"articles/PMC4484512.md","variant_annotation_id":1449192125,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"lumacaftor","pmid":26137539,"phenotype_category":"Efficacy","significance":"yes","notes":"F508del allele. Study carried out using primary bronchial epithelial cells from donors with cystic fibrosis. Secretion of chloride ions across the cell membrane was measured to determine CFTR activity.","sentence":"Genotype del/del is associated with response to lumacaftor.","alleles":"del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038004,"variant_haplotypes":"rs1263177","gene":"APOA4","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4976849","article_title":"Folate metabolic pathway single nucleotide polymorphisms: a predictive pharmacogenetic marker of methotrexate response in Indian (Asian) patients with rheumatoid arthritis","article_path":"articles/PMC4976849.md","variant_annotation_id":1447674471,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"methotrexate","pmid":26616421,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes GT + TT is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5287983","article_title":"Patients with CYP3A4\u22171G genetic polymorphism consumed significantly lower amount of sufentanil in general anesthesia during lung resection","article_path":"articles/PMC5287983.md","variant_annotation_id":1449716717,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"sufentanil","pmid":28121959,"phenotype_category":"Dosage","significance":"no","notes":"The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Genotypes C/T + T/T is associated with decreased dose of sufentanil in people with Pain, Postoperative as compared to genotype C/C.","alleles":"C/T + T/T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C/C","comparison_metabolizer_types":null} -{"pmcid":"PMC6171340","article_title":"Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy","article_path":"articles/PMC6171340.md","variant_annotation_id":1451134105,"variant_haplotypes":"rs2753326","gene":"CACNA1H","drugs":"lamotrigine","pmid":28165634,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by minor allele frequency in not\u2013seizure\u2010free vs seizure-free children. Authors do not specify which allele is minor allele but state \"Two synonymous CACNA1H variants, located essentially next to each other (rs2753326 and rs2753325), were associated with greater seizure freedom in the lamotrigine group. Both have global minor allele frequency reported as 0.29 compared to 0.36 in the lamotrigine cohort.\" This does not seem to match with frequencies in Table 2. Assumed minor allele as same as dbSNP which was A and major allele as G.","sentence":"Allele A is associated with increased clinical benefit to lamotrigine in children with Epilepsy as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Efficacy:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1884261","article_title":"Disposition of debrisoquine and nortriptyline in Korean subjects in relation to CYP2D6 genotypes, and comparison with Caucasians","article_path":"articles/PMC1884261.md","variant_annotation_id":1446899759,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"nortriptyline","pmid":12814461,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was a difference found between AUC (0-8) of 4-hydroxydebrisoquine, which was significantly lower in *1/*10 than in *1/*1, but no other differences were found for debrisoquine and none were found for nortriptyline in this sample.","sentence":"CYP2D6 *1/*10 is not associated with decreased metabolism of nortriptyline in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*1/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5057355","article_title":"Impact of cytochrome P450 2C19 polymorphisms on the pharmacokinetics of tacrolimus when coadministered with voriconazole","article_path":"articles/PMC5057355.md","variant_annotation_id":1447672698,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":26239045,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The maximum plasma concentration (Cmax) and area under the plasma concentration time curve from 0 to 12 hours (AUC0-12) was higher in poor metabolizers (*2/*2 n=2; *2/*3 n=3; *3/*3 n=1) as compared to extensive metabolizers (*1/*1 n=6).","sentence":"CYP2C19 *2/*2 + *2/*3 + *3/*3 is associated with increased concentrations of voriconazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4737107","article_title":"Thiopurine dose intensity and treatment outcome in childhood lymphoblastic leukaemia: the influence of thiopurine methyltransferase pharmacogenetics","article_path":"articles/PMC4737107.md","variant_annotation_id":1353450854,"variant_haplotypes":"TPMT*1, TPMT*3A","gene":"TPMT","drugs":"mercaptopurine, thioguanine","pmid":25441457,"phenotype_category":"Dosage","significance":"yes","notes":"As compared to those with the wild-type genotype (*1/*1), those patients with the *1/*3A genotype had a 1) a lower average dose (70.1% vs 78.0%, where dose given as the % of standard protocol dose), 2) a greater percentage of time spent at no dose (21.3% vs 15.5%) and 3) a smaller percentage of time where the dose was escalated (1.5% vs 5.8%).","sentence":"TPMT *1/*3A is associated with decreased dose of mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*3A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359481,"variant_haplotypes":"rs10064525","gene":"SLC6A3","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449246784,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522297,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896173,"variant_haplotypes":"rs7485210","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121685,"variant_haplotypes":"rs165599","gene":"COMT","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele A is not associated with response to oxycodone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296737,"variant_haplotypes":"CYP2C9*1, CYP2C9*5, CYP2C9*6, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"in African Americans.","sentence":"CYP2C9 *5 + *6 + *11 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*5 + *6 + *11","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002474,"variant_haplotypes":"rs17431184","gene":"PTEN","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"not stated","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Five SNPs (rs2289310 G>T; rs1047840 G>A; rs17431184 T>C; rs17160359 G>T; rs2236722 A>G) were identified as distinguishing the \"non-responder\" phenotype from the \"responder\" phenotype when using a logistic regression multivariate model. The AUC for the receiver operating characteristic curve of the 5 SNPs is 0.875. This logistic-based multivariate model is said to be able to identify 39.1% of non-responders.","sentence":"Allele C is associated with increased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767291,"variant_haplotypes":"rs3002143","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5903239","article_title":"Developmental pharmacogenetics of CYP2C19 in neonates and young infants: omeprazole as a probe drug","article_path":"articles/PMC5903239.md","variant_annotation_id":1449166382,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"omeprazole","pmid":29377228,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors referred to the \"ABCB1 C3435T genotype\" as the most important covariate influencing the absorption rate constant (Ka) and that their \"Model-predicted Ka is 6.93 times higher in ABCB1 homozygous mutant patients, 1.86 times higher in ABCB1 heterozygous patients than that in ABCB1 homozygous wild-type patients.\" This is taken to mean that the higher Ka is for the TT and CT genotypes as compared to the CC genotypes. Complementing alleles back to the complement on the + strand means that the higher Ka is for the AA and AG genotypes as compared to the GG genotypes.","sentence":"Genotypes AA + AG are associated with increased concentrations of omeprazole in infants with Gastroesophageal Reflux as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in infants with","population_phenotypes_or_diseases":"Disease:Gastroesophageal Reflux","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701155,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP explained 29% (P = 1.03 x 10(-97)) of the variation in warfarin dose.","sentence":"Allele T is associated with decreased dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6370172","article_title":"Correlation of CYP2C19 genotype with plasma voriconazole exposure in South-western Chinese Han patients with invasive fungal infections","article_path":"articles/PMC6370172.md","variant_annotation_id":1450372533,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":30653146,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were poor metabolizers (*2/*2 or *2/*3) had increased trough concentrations (C0) and dose-adjusted trough concentrations (C0/D) as compared to those who were normal metabolizers (*1/*1). Significant results were also seen for C0/D when *2/*2 individually was compared against *1/*1; no significant results were seen for C0.","sentence":"CYP2C19 *2/*2 + *2/*3 is associated with decreased metabolism of voriconazole in people with as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3598593","article_title":"Effect of Fenofibrate Therapy and ABCA1 Polymorphisms on High Density Lipoprotein Subclasses in the Genetics of Lipid Lowering Drugs and Diet Network","article_path":"articles/PMC3598593.md","variant_annotation_id":982044812,"variant_haplotypes":"rs2230806","gene":"ABCA1","drugs":"fenofibrate","pmid":20346718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CT genotype had a greater small high-density lipoprotein (HDL) particle concentration (units = umol/L) after fenofibrate treatment for 3 weeks, as compared to patients with the CC genotype.","sentence":"Genotype CT is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6587209","article_title":"The N680S variant in the follicle-stimulating hormone receptor gene identifies hyperresponders to controlled ovarian stimulation","article_path":"articles/PMC6587209.md","variant_annotation_id":1450372589,"variant_haplotypes":"rs6166","gene":"FSHR","drugs":"follitropin beta, urofollitropin","pmid":30829738,"phenotype_category":"Toxicity","significance":"not stated","notes":"The ovarian hyperstimulation syndrome incidence was 6% (36 cases): 13 with the AA and 23 with the AG and no cases with the GG genotype. The N680S polymorphism was associated with ovarian hyperstimulation syndrome (Ptrend = 0.004 and Pallele = 0.038), with carriers of asparagine having an odds ratio for ovarian hyperstimulation syndrome of 1.7, 95% confidence interval: 1.0\u20132.8, P = 0.04, in comparison with carriers of serine.","sentence":"Allele T is associated with increased response to follitropin beta or urofollitropin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550226,"variant_haplotypes":"rs7341475","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele A is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7115946","article_title":"Population pharmacokinetics of Daunorubicin in adult patients with acute myeloid leukemia","article_path":"articles/PMC7115946.md","variant_annotation_id":1448635343,"variant_haplotypes":"rs25678","gene":"CBR1","drugs":"daunorubicin","pmid":27738808,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by lower AUC of daunorubicin. Patients who achieved complete remission (CR) had significantly lower plasma Daunorubicin AUC, but relationship of variant and clinical outcome was not tested.","sentence":"Genotype CC is associated with decreased exposure to daunorubicin in people with Leukemia, Myeloid, Acute as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4631185","article_title":"Effect of carboxylesterase 1 c.428G\u2009>\u2009A single nucleotide variation on the pharmacokinetics of quinapril and enalapril","article_path":"articles/PMC4631185.md","variant_annotation_id":1446899416,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"enalapril","pmid":25919042,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This was a fixed-order crossover study with two phases: following overnight fasting participants took a 10 mg dose of quinapril and, after a washout period of at least 1 week, a 10 mg dose of enalapril with 150 ml water in the morning and EDTA-prepared blood samples were drawn before and up to 24 hr, and up to 48 h after ingestion for the determination of the concentrations of quinapril and its metabolite quinaprilat, as well as enalapril and its metabolite enalaprilat. Urine was collected up to 12 h after quinapril and enalapril. Only AUC (0-infinity) and amount excreted in urine of enalaprilat were significantly different between genotype groups. Other PK parameters that were tested and not significantly different were Cmax, Tmax, T(1/2), and renal clearance.","sentence":"Genotype CT is associated with decreased metabolism of enalapril in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5562097","article_title":"Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers","article_path":"articles/PMC5562097.md","variant_annotation_id":1448639975,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"acetaminophen","pmid":28663312,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with metabolism of acetaminophen in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647610,"variant_haplotypes":"rs7205113","gene":null,"drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele T is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438308,"variant_haplotypes":"rs7282679","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5E-9. This variant was in linkage disequilibrium with rs2829679.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558056,"variant_haplotypes":"rs2847153","gene":"TYMS","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510511,"variant_haplotypes":"rs5326","gene":"DRD1","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3539557","article_title":"Variation in KCNQ1 is associated with therapeutic response to sulphonylureas","article_path":"articles/PMC3539557.md","variant_annotation_id":1452875160,"variant_haplotypes":"rs163184","gene":"KCNQ1","drugs":"gliclazide, glimepiride, glipizide, glyburide","pmid":21709633,"phenotype_category":"Efficacy","significance":"yes","notes":"\"After sulphonylurea therapy, patients in the TT+TG group achieved significantly lower FPG levels in comparison with patients with the GG genotype (6.95\u00b10.13 vs. 7.50\u00b10.21 mmol/L, p=0.033). Consequently, \u0394FPG was significantly higher in the TT+TG group compared to the GG group (1.58\u00b10.13 vs. 1.04\u00b10.18 mmol/L, p=0.016) (Table 3).\"","sentence":"Genotypes GT + TT is associated with increased clinical benefit to gliclazide, glimepiride, glipizide or glyburide in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9532634","article_title":"Effect of CYP3A4 and PPARA polymorphism on concentration-to-dose ratio and adverse effects of tacrolimus in Pakistani liver transplant recipients","article_path":"articles/PMC9532634.md","variant_annotation_id":1451920120,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tacrolimus","pmid":36246675,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. Difference was seen at week 1 and 2 but not 3 and 4.","sentence":"Genotypes AA + AG is associated with increased concentrations of tacrolimus in people with liver transplantation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511092,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of AA, AC and CC did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype AA.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC7221122","article_title":"Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy","article_path":"articles/PMC7221122.md","variant_annotation_id":1451151724,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"phenytoin","pmid":32457604,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between the variant and the number of patients with drug-resistant epilepsy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with resistance to phenytoin in people with Epilepsy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7375952","article_title":"Genetic variants in CYP2A6 and UGT1A9 genes associated with urinary nicotine metabolites in young Mexican smokers","article_path":"articles/PMC7375952.md","variant_annotation_id":1451409603,"variant_haplotypes":"CYP2A6*1, CYP2A6*12","gene":"CYP2A6","drugs":"3-hydroxycotinine","pmid":31959879,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2A6 *1/*12 is associated with decreased concentrations of 3-hydroxycotinine as compared to CYP2A6 *1/*1.","alleles":"*1/*12","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10769478","article_title":"The role of IL10 and IL17 gene polymorphisms in treatment response in children and adolescents with severe asthma","article_path":"articles/PMC10769478.md","variant_annotation_id":1452358628,"variant_haplotypes":"rs3024498","gene":"IL10","drugs":"budesonide, fluticasone/salmeterol, formoterol, omalizumab","pmid":38232251,"phenotype_category":"Efficacy","significance":"yes","notes":"\"As can be seen in Table 3, patients with at least one rs3024498 C allele in the IL10 gene were found to be at a greater risk of having uncontrolled asthma despite regular treatment. \" \"Some patients were using dry-powder inhalers that delivered a combination of budesonide and formoterol, whereas others were using pressurized metered-dose inhalers that delivered a combination of fluticasone and salmeterol or omalizumab only\"","sentence":"Genotypes CC + CT is associated with decreased clinical benefit to budesonide, fluticasone/salmeterol, formoterol or omalizumab in children with Asthma as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11016593","article_title":"Effects of Genetic Polymorphisms of Drug Metabolizing Enzymes and co-Medications on Tamoxifen Metabolism in Black South African Women with Breast Cancer","article_path":"articles/PMC11016593.md","variant_annotation_id":1452073007,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*17, CYP2D6*29","gene":"CYP2D6","drugs":"endoxifen","pmid":37042388,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients treated with tamoxifen.","sentence":"CYP2D6 *17/*29 + *17/*17 (assigned as poor metabolizer phenotype) is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*2 + *2/*2 (assigned as normal metabolizer phenotype) .","alleles":"*17/*29 + *17/*17","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3656883","article_title":"Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements","article_path":"articles/PMC3656883.md","variant_annotation_id":1185002340,"variant_haplotypes":"rs61742245","gene":"VKORC1","drugs":"acenocoumarol","pmid":23691226,"phenotype_category":"Dosage","significance":"yes","notes":"22 mg/week carriers vs 14 mg/week non-carriers.","sentence":"Genotypes AA + AC is associated with increased dose of acenocoumarol as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983231,"variant_haplotypes":"rs9315310","gene":"NBEA","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here. Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele T is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3462355","article_title":"G PROTEIN RECEPTOR KINASE 4 (GRK4) POLYMORPHISMS: BETA-BLOCKER PHARMACOGENETICS AND TREATMENT RELATED OUTCOMES IN HYPERTENSION","article_path":"articles/PMC3462355.md","variant_annotation_id":981345436,"variant_haplotypes":"rs2960306","gene":"GRK4","drugs":"atenolol","pmid":22949529,"phenotype_category":"Efficacy","significance":"yes","notes":"This decrease in response was only significant* when considered as part of a haplotype with rs1024323. The finding was that increasing copies of rs2960306T-rs1024323T haplotype were associated with significantly reduced atenolol-induced diastolic blood pressure lowering (-9.1\u00b16.8 versus -6.8\u00b17.1 versus -5.3\u00b16.4 mm Hg in participants with 0, 1, and 2 copies respectively). Analysis of the SNP alone showed a trend towards decreased response with the T allele. The association of the haplotype was only observed in rs1801253 CC genotypes in Whites.; *= authors state that the data are statistically significant when Bonferroni-corrected for the number of SNPs tested in the analysis but that they do not meet chip-wide Bonferroni-corrected significance.","sentence":"Allele T is associated with decreased response to atenolol in people with Hypertension as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6357360","article_title":"Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review","article_path":"articles/PMC6357360.md","variant_annotation_id":1450933130,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"opioids","pmid":30704436,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the AG genotype had reduced consumption of opioids compared to those with the GG genotype.","sentence":"Genotype AG is associated with decreased dose of opioids in children as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388209,"variant_haplotypes":"rs7769719","gene":"PPARD","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper)","sentence":"Allele G is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451673080,"variant_haplotypes":"rs5031016","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. This variant is referred to in the paper as being equivalent to *7 however, this variant is found in multiple CYP2A6 alleles.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756083,"variant_haplotypes":"rs2077737","gene":null,"drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170893,"variant_haplotypes":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A4","drugs":"N-desmethyltamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452241080,"variant_haplotypes":"rs16934182","gene":"KCNMA1","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Dosage","significance":"yes","notes":"\"In our study, carriers of the minor allele (GA/AA) required less DXM to reach the ideal sedation status than homozygosity for the major allele (GG) (29.16 \u00b1 1.38 vs. 38.23 \u00b1 11.02, p = 0.034). Heterozygosity or homozygosity for the minor allele A) of KCNMA1 rs16934182 was a factor in more sensitizing to DXM sedation.\"","sentence":"Genotypes AA + AG is associated with decreased dose of dexmedetomidine in people with surgery as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4965653","article_title":"Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases","article_path":"articles/PMC4965653.md","variant_annotation_id":1450376712,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":27482244,"phenotype_category":"Efficacy","significance":"no","notes":"Patients underwent the same naturalistic assessment procedure to evaluate the treatment response, which included the reapplication of the CPRS, CTRS, CGI-S, GAS, CPT and TMT A and B. Treatment responders were defined as follows: patients registering 2 points or greater improvement on the CGI-S and a total GAS score of 60 points or greater (out of 108 subjects 66.6% responded to the treatment, while 33.3% did not). No association for distribution of genotypes according to treatment response.","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9314634","article_title":"The Polymorphic Nuclear Factor NFIB Regulates Hepatic CYP2D6 Expression and Influences Risperidone Metabolism in Psychiatric Patients","article_path":"articles/PMC9314634.md","variant_annotation_id":1451719580,"variant_haplotypes":"rs28379954","gene":"NFIB","drugs":"paliperidone, risperidone","pmid":35253216,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"among CYP2D6 normal metabolizers measuring metabolite-to-parent ratio (MPR) of risperidone and 9-hydroxyrisperidone (paliperidone). No CC were reported.","sentence":"Genotype CT is associated with increased concentrations of paliperidone and risperidone as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4100708","article_title":"Secondary metabolism pathway polymorphisms and plasma efavirenz concentrations in HIV-infected adults with CYP2B6 slow metabolizer genotypes","article_path":"articles/PMC4100708.md","variant_annotation_id":1184467517,"variant_haplotypes":"rs28399433","gene":"CYP2A6","drugs":"efavirenz","pmid":24729586,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As measured by increased plasma concentrations in patients with the AC genotype compared to the CC genotype. One White subject had the C on one allele and a CYP2A6 deletion of the other allele. When this subject was removed from univariate analysis the association with this SNP remained (p=9.4x10-4). *Note: All participants were CYP2B6 slow metabolizers (defined by the following genotypes of two SNPs: rs3745274 TT, or rs3745274 T/rs28399499 C or rs28399499 CC).* Alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165374,"variant_haplotypes":"rs1801274","gene":"FCGR2A","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 15 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele G is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10418744","article_title":"Personalized CFTR Modulator Therapy for G85E and N1303K Homozygous Patients with Cystic Fibrosis","article_path":"articles/PMC10418744.md","variant_annotation_id":1452416586,"variant_haplotypes":"rs75961395","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":37569738,"phenotype_category":"Efficacy","significance":"not stated","notes":"\"Elexacaftor/tezacaftor/ivacaftor (ETI) therapy improves clinical outcomes in the G85E/G85E patient.\"","sentence":"Genotype AA is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823670,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"GT + TT were associated with increased exposure to drug, as measured by increased area under the concentration time curve and decreased apparent oral clearance of the drug. This was not statistically significant after multiple comparison correction, but was significant in a multiple variant model for nevirapine AUC (p=0.0001) [stat_test: linear regression]","sentence":"Genotypes GT + TT are associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5538305","article_title":"Impact of CYP2C19 Genotype and Liver Function on Voriconazole Pharmacokinetics in Renal Transplant Recipients","article_path":"articles/PMC5538305.md","variant_annotation_id":1448820856,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":28604474,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Patients who are CYP2C19 extensive metabolizers (EMs, *1/*1) had decreased trough concentrations of voriconazole (Cmin) as compared to intermediate metabolizers (IMs, *1/*2, *1/*3 or *2/*17). However, note that the authors did not specifically state which of these IM genotypes were present in the population. Receiving voriconazole for prevention or treatment of invasive fungal infection (IFI).","sentence":"CYP2C19 *1/*1 is associated with increased metabolism of voriconazole in people with Kidney Transplantation as compared to CYP2C19 *1/*2 + *1/*3 + *2/*17.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3 + *2/*17","comparison_metabolizer_types":null} -{"pmcid":"PMC9582748","article_title":"Effects of CYP2C19 genetic polymorphisms on the cure rates of H. pylori in patients treated with the proton pump inhibitors: An updated meta-analysis","article_path":"articles/PMC9582748.md","variant_annotation_id":1451927000,"variant_haplotypes":"CYP2C19 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C19","drugs":"lansoprazole, omeprazole","pmid":36278195,"phenotype_category":"Efficacy","significance":"yes","notes":"in meta-analysis of cure rates of H. pylori in triple therapy.","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with increased clinical benefit to lansoprazole or omeprazole in people with Helicobacter Infections as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5818817","article_title":"Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial","article_path":"articles/PMC5818817.md","variant_annotation_id":1449269193,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28973620,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele A is associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729097,"variant_haplotypes":"rs9332245","gene":"CYP2C9","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotype AT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype TT.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677393,"variant_haplotypes":"rs4646","gene":"CYP19A1","drugs":"hdl cholesterol","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole alone or with lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in HDL-cholesterol of 4.2 mg/dL (SE 1.16).","sentence":"Allele A is associated with decreased concentrations of hdl cholesterol in women with Breast Neoplasms and Menopause as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678763,"variant_haplotypes":"rs1610696","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"no","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). Neither were significantly associated with any genotype.","sentence":"Genotypes CG + GG are not associated with response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479884,"variant_haplotypes":"rs2572023","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675738,"variant_haplotypes":"rs3087386","gene":"REV1","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP is not associated with event-free survival (p = 0.744) or overall survival (p = 0.189), as determined by recurrence or death. Mean follow-up time was 143 months.","sentence":"Genotypes AA + AG are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864548,"variant_haplotypes":"rs7900194","gene":"CYP2C9","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP defines CYP2C9*8. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1.","sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5562097","article_title":"Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers","article_path":"articles/PMC5562097.md","variant_annotation_id":1448639969,"variant_haplotypes":"rs8330","gene":"UGT1A","drugs":"acetaminophen","pmid":28663312,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with metabolism of acetaminophen in healthy individuals as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3622803","article_title":"Genetic Variation in BDNF is Associated with Antipsychotic Treatment Resistance in Patients with Schizophrenia","article_path":"articles/PMC3622803.md","variant_annotation_id":1183697782,"variant_haplotypes":"rs6265","gene":"BDNF","drugs":"antipsychotics","pmid":23433505,"phenotype_category":"Efficacy","significance":"yes","notes":"The T allele is associated with increased odds of resistance to antipsychotic treatment. Resistance was assessed by whether patients were taking clozapine, since clozapine is indicated for patients poorly responsive or resistant to first-line treatments. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT is associated with increased resistance to antipsychotics in people with Schizophrenia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6472479","article_title":"Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and Phe508del and a Residual Function Mutation","article_path":"articles/PMC6472479.md","variant_annotation_id":1449154713,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor","pmid":29099333,"phenotype_category":"Efficacy","significance":"yes","notes":"This trial was designed to evaluate the efficacy and safety of tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo. It is a phase 3, randomized, multicenter, double-blind, placebo-controlled, two-period, three-intervention crossover trial (NCT02392234). Patients were 12 years of age or older with cystic fibrosis (CF) and were heterozygous for the Phe508del CFTR mutation and a second allele with a CFTR mutation with residual function as assessed by in vitro studies. Each patient received two of the three regimens (tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo).","sentence":"Genotype CTT/del is associated with increased response to ivacaftor in people with Cystic Fibrosis.","alleles":"CTT/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8917764","article_title":"A single low dose of primaquine is safe and sufficient to reduce transmission of Plasmodium falciparum gametocytes regardless of cytochrome P450 2D6 enzyme activity in Bagamoyo district, Tanzania","article_path":"articles/PMC8917764.md","variant_annotation_id":1451727780,"variant_haplotypes":"G6PD deficiency","gene":"G6PD","drugs":"primaquine","pmid":35279143,"phenotype_category":"Efficacy","significance":"no","notes":"Authors measured \"two most common polymorphisms associated with G6PD deficiency in Africa i.e., A376G (rs1050829 A\u2009>\u2009G/T\u2009>\u2009C) and G202A (rs1050828 G\u2009>\u2009A/C\u2009>\u2009T) \" and \"The outcomes were classified as follows; For males A was defined as wild-type/normal and A\u2212 as hemizygous/deficient G6PD status, whereas for females A\u2212A\u2212 was defined as homozygous/deficient, AA\u2212 and BA\u2212 as heterozygous/intermediate and AA and BA as wild-type/normal G6PD status\". Hemizygous/homozygous G6PD deficient, n = 20, and G6PD heterozygous female, n = 21. \"none of the patients had parasitaemia on day 3\"","sentence":"G6PD deficiency is not associated with decreased clinical benefit to primaquine in children with Malaria as compared to G6PD non-deficient.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Malaria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"non-deficient"} -{"pmcid":"PMC5975540","article_title":"Association Between ABCB1 Polymorphism and Stable Warfarin Dose Requirements in Brazilian Patients","article_path":"articles/PMC5975540.md","variant_annotation_id":1449575721,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"warfarin","pmid":29875668,"phenotype_category":"Dosage","significance":"no","notes":"Univariate analysis only. Association was significant in the overall group, and in the self-reported \"non-white\" patients, but not in the self-reported \"white\" patients.","sentence":"Genotype GG is associated with increased dose of warfarin as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603528,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CC genotype had higher dose-adjusted trough concentrations of tacrolimus at weeks 1 (p=0.005), 2 (p=0.008), 3 (p=0.003) and 4 (p<0.001) post-transplant as compared to those with the CT or TT genotype. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is associated with increased dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949708,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes CT + TT is not associated with resistance to clopidogrel in people with Stroke as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5298887","article_title":"Genome-Wide Prioritization and Transcriptomics Reveal Novel Signatures Associated with Thiazide Diuretics Blood Pressure Response","article_path":"articles/PMC5298887.md","variant_annotation_id":1448568141,"variant_haplotypes":"rs10995","gene":"VASP","drugs":"hydrochlorothiazide","pmid":28115488,"phenotype_category":"Efficacy","significance":"yes","notes":"The rs10995 G-allele was associated with better blood pressure response to hydrochlorothiazide versus noncarriers (delta systolic BP/delta diastolic BP: -12.3/-8.2 versus -6.8/-3.5 mm Hg, respectively, delta systolic BP P=3\u00d710-4, delta diastolic BP P=5\u00d710-5)\". rs10995 G-allele was associated with increased mRNA expression of VASP (vasodilator-stimulated phosphoprotein).","sentence":"Genotypes AG + GG are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2647710","article_title":"Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states1","article_path":"articles/PMC2647710.md","variant_annotation_id":982044699,"variant_haplotypes":"rs3135506","gene":"APOA5","drugs":"fenofibrate","pmid":19056598,"phenotype_category":"Efficacy","significance":"not stated","notes":"When combined with rs780094 CT + TT genotypes. This combined genotype group is associated with a greater reduction in triacylglycerol concentrations between baseline and 3 weeks of treatment, as compared to any other genotype combination. Adjusted for baseline triacylglycerol.","sentence":"Genotypes CG + GG are associated with increased response to fenofibrate in people with Hypertriglyceridemia.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438220,"variant_haplotypes":"rs2226443","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5E-9. This variant was in strong linkage disequilibrium with rs4816969 and rs9305223.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373204,"variant_haplotypes":"rs6902403","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695471,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele C is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271192,"variant_haplotypes":"CYP2B6 poor metabolizer","gene":"CYP2B6","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP2B6 *1, *4, *6 and *9 alleles and then assigned metabolizer phenotypes.","sentence":"CYP2B6 poor metabolizer is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP2B6 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC2515139","article_title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","article_path":"articles/PMC2515139.md","variant_annotation_id":608431778,"variant_haplotypes":"rs216013","gene":"CACNA1C","drugs":"warfarin","pmid":18535201,"phenotype_category":"Dosage","significance":"no","notes":"This intronic variant in the membrane calcium-channel gene CACNA1C was correlated with warfarin dose (p = 9.2 \u00d7 10-5) in the index population (n = 181) from a GWAS study of white patients undergoing anticoagulation therapy. Combined analysis of the index and replication populations (n = 374) yielded a p value of 8.6 \u00d7 10-7. \"However, this variant did not reach established significance threshold independently in the replication population (P = .002), nor did it achieve significance after multiple testing correction in multivariate modeling (uncorrected P = .003)\".","sentence":"Allele A is not associated with dose of warfarin.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038053,"variant_haplotypes":"rs5090","gene":"APOA4","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotype CG is not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862194,"variant_haplotypes":"rs6269","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs740603, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele A is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811856,"variant_haplotypes":"rs2075572","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The G allele was associated with increased scores in the dizzy, drunk and nausea traits on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele G is associated with increased response to ethanol as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5411458","article_title":"CYP2D6 Phenotyping Using Urine, Plasma, and Saliva Metabolic Ratios to Assess the Impact of CYP2D6\u221710 on Interindividual Variation in a Chinese Population","article_path":"articles/PMC5411458.md","variant_annotation_id":1448617678,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"dextromethorphan","pmid":28512430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. *1/*1 n= 22; *10/*10 n=85. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001).","sentence":"CYP2D6 *10/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*10/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6046506","article_title":"Population pharmacokinetics of tacrolimus in children with nephrotic syndrome","article_path":"articles/PMC6046506.md","variant_annotation_id":1449275137,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29637588,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"One-compartment model and first-order elimination were used for covariate analysis: body weight, CYP3A5 were significantly associated with tacrolimus pk. Monte Carlo simulation showed that patients w/the CYP3A5*3/*3 genotype receiving 0.10 mg/kg/dose 2x day and patients w/the CYP3A5*1/*1 + *1/*3A receiving 0.25 mg/kg/dose 2x day achieves target concentrations of 5-10 ng/ml. CL/F was significantly lower in CYP3A5*3/*3 vs *1/*1 +*1/*3 (0.567 \u00b1 0.216 vs. 1.050 \u00b1 0.641 L/h/kg, P = 0.005)","sentence":"CYP3A5 *3/*3 is associated with decreased clearance of tacrolimus in children with Nephrotic Syndrome as compared to CYP3A5 *1/*1.","alleles":"*3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Nephrotic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10196221","article_title":"Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study","article_path":"articles/PMC10196221.md","variant_annotation_id":1452107306,"variant_haplotypes":"rs12703159","gene":"PRKAG2","drugs":"rivaroxaban","pmid":37203300,"phenotype_category":"Toxicity","significance":"no","notes":"as measured by peak anti\u2010FXa level. Association described as \"suggestive\". \"The incidence of bleeding events were significantly related to the peak anti\u2010FXa level, which were significantly increased in patients with bleeding events than in those without\"","sentence":"Allele C is associated with increased response to rivaroxaban in people with Atrial Fibrillation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376632,"variant_haplotypes":"rs3758653","gene":"DRD4","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele C is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10917709","article_title":"Cytotoxic T lymphocyte\u2010associated antigen\u20104 (CTLA-4) gene polymorphisms in a cohort of Egyptian patients with immune thrombocytopenia (ITP)","article_path":"articles/PMC10917709.md","variant_annotation_id":1452421320,"variant_haplotypes":"rs231775","gene":"CTLA4","drugs":"avatrombopag, corticosteroids, eltrombopag, rituximab","pmid":38485815,"phenotype_category":"Efficacy","significance":"no","notes":"\"There was no correlation between CTLA-4 (rs: 231775 and rs: 3087243) A/G SNPs were not correlated to the response to all lines of therapy assessed (corticosteroids, thrombopoietin receptor agonists, splenectomy, and rituximab).\"","sentence":"Allele A is not associated with increased clinical benefit to avatrombopag, corticosteroids, eltrombopag or rituximab Thrombocytopenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":"Other:Thrombocytopenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043660,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a man reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to amlodipine in men with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3548029","article_title":"Subjective Response to Alcohol among Alcohol Dependent Individuals: Effects of the Mu-Opioid Receptor (OPRM1) Gene and Alcoholism Severity","article_path":"articles/PMC3548029.md","variant_annotation_id":1450814947,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":23240711,"phenotype_category":"Toxicity","significance":"yes","notes":"Participants with the G allele reported greater alcohol-induced stimulation, vigor and positive mood than participants with the AA genotype.","sentence":"Allele G is associated with increased response to ethanol in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1451441660,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW). Mapped *1B to rs2740574 C and *1A to rs2740574 T based on PharmVAR consolidation of core alleles.","sentence":"Genotype TT is associated with increased concentrations of tacrolimus in children with Kidney Transplantation as compared to genotype CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755940,"variant_haplotypes":"rs195854","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3774043","article_title":"Intestinal CYP3A4 and Midazolam Disposition in vivo Associate with VDR Polymorphisms and Show Seasonal Variation","article_path":"articles/PMC3774043.md","variant_annotation_id":981565062,"variant_haplotypes":"rs11568820","gene":"VDR","drugs":"midazolam","pmid":22484315,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with increased clearance of midazolam as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703607,"variant_haplotypes":"rs1050152","gene":"SLC22A4","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving complete molecular response (CMR) within 12 months. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%.","sentence":"Genotype TT is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823690,"variant_haplotypes":"rs3842689","gene":"NR1I2","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"as measured by decreased area under the concentration time curve and increased apparent oral clearance of the drug. This was not statistically significant after multiple comparison correction. [stat_test: linear regression]","sentence":"Genotypes GAGAAG/del + del/del are associated with increased clearance of nevirapine in people with HIV Infections as compared to genotype GAGAAG/GAGAAG.","alleles":"GAGAAG/del + del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAGAAG/GAGAAG","comparison_metabolizer_types":null} -{"pmcid":"PMC3481266","article_title":"Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiator VX-770 (Ivacaftor) Opens the Defective Channel Gate of Mutant CFTR in a Phosphorylation-dependent but ATP-independent Manner","article_path":"articles/PMC3481266.md","variant_annotation_id":981755746,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":22942289,"phenotype_category":"Efficacy","significance":"not stated","notes":"In vitro studies using proteoliposomes containing CFTR, or CFTR with the G551D mutation (rs75527207 allele A), or CFTR with the F508del mutation (rs113993960 allele del). Ivacaftor in the presence of ATP potentiated channel activity of CFTR-G551D.","sentence":"Allele A is associated with increased response to ivacaftor.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7655626","article_title":"Pharmacogenetic Interactions of Rifapentine plus Isoniazid with Efavirenz or Nevirapine","article_path":"articles/PMC7655626.md","variant_annotation_id":1451308122,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"nevirapine","pmid":32815870,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"NAT2 slow acetylators also had greater plasma efavirenz and nevirapine concentration increases from baseline to week 4, and greater decreases from baseline in clearance.","sentence":"NAT2 slow acetylator is associated with increased concentrations of nevirapine in people with HIV Infections.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2754599","article_title":"CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti","article_path":"articles/PMC2754599.md","variant_annotation_id":1184471369,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":19659438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As determined by significantly higher efavirenz plasma levels. Composite analysis with rs3745274: extensive metabolizers were defined as having no variant alleles at positions 516 (allele G) or (983 allele T), intermediate metabolizers had a single variant at one of the positions but not both, slow metabolizers (described as \"poor\" here) had 2 variant alleles (either genotype 516TT, 983CC, or 516 GT with 983 TC). Significant after Bonferroni correction for multiple comparisons.","sentence":"Allele T (assigned as poor metabolizer phenotype) is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to allele G (assigned as normal metabolizer phenotype) .","alleles":"T","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002477,"variant_haplotypes":"rs4476990","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane. Did not reach statistical significance for GWAS (P<5 x 10^-8).","sentence":"Allele G is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757050,"variant_haplotypes":"rs3756009","gene":"F11","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4425504","article_title":"Association between Polymorphisms in Vascular Endothelial Growth Factor Gene and Response to Chemotherapies in Colorectal Cancer: A Meta-Analysis","article_path":"articles/PMC4425504.md","variant_annotation_id":1444842390,"variant_haplotypes":"rs699947","gene":"VEGFA","drugs":"bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin","pmid":25955730,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to treatment was determined by RECIST criteria.","sentence":"Genotype CC is associated with increased response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to genotype AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} -{"pmcid":"PMC4254688","article_title":"Ethnic and genetic factors in methadone pharmacokinetics: A population pharmacokinetic study","article_path":"articles/PMC4254688.md","variant_annotation_id":1447520749,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":25456329,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased clearance of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3454425","article_title":"Pharmacogenetic Analysis of Pediatric Patients with Acute Lymphoblastic Leukemia: A Possible Association between Survival Rate and ITPA Polymorphism","article_path":"articles/PMC3454425.md","variant_annotation_id":981501231,"variant_haplotypes":"TPMT*1, TPMT*3A","gene":"TPMT","drugs":"mercaptopurine, methotrexate","pmid":23029095,"phenotype_category":"Dosage","significance":"no","notes":"The median dose percent of 6-MP and MTX for the TPMT wild type was higher than variant types. There was no significant difference in the dose percents by TPMT genotypes, although there was only six *1/*3A and *1/*3C patients and one *2*2 patient.","sentence":"TPMT *1/*1 is associated with increased dose of mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*3A.","alleles":"*1/*1","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3A","comparison_metabolizer_types":null} -{"pmcid":"PMC3555061","article_title":"Impact of the CYP2C8 *3 polymorphism on the drug\u2013drug interaction between gemfibrozil and pioglitazone","article_path":"articles/PMC3555061.md","variant_annotation_id":1449713492,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"pioglitazone","pmid":22625877,"phenotype_category":"Metabolism/PK","significance":"no","notes":"When co-administered with gemfibrozil. Patients taking pioglitazone and gemfibrozil. No significant results when considering Cmax (p=0.51), AUC0-inf (p=0.99), AUC0-48h (p=0.39), CL/F (p=0.712) or t1/2 (p=0.3).","sentence":"CYP2C8 *1/*1 is not associated with metabolism of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC7245057","article_title":"Influences of UGT2B7 rs7439366 and rs12233719 Polymorphisms on Fentanyl Sensitivity in Chinese Gynecologic Patients","article_path":"articles/PMC7245057.md","variant_annotation_id":1451147960,"variant_haplotypes":"rs7439366","gene":"UGT2B7","drugs":"fentanyl","pmid":32401749,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in postoperative fentanyl consumption or VAS scores at 24 hours post-surgery between genotypes.","sentence":"Allele T is not associated with response to fentanyl in women with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4365300","article_title":"TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy","article_path":"articles/PMC4365300.md","variant_annotation_id":1444702644,"variant_haplotypes":"rs10919563","gene":"PTPRC","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":25834819,"phenotype_category":"Efficacy","significance":"no","notes":"using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.","sentence":"Allele A is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4541974","article_title":"Impact of CYP2C19 polymorphism on the pharmacokinetics of nelfinavir in patients with pancreatic cancer","article_path":"articles/PMC4541974.md","variant_annotation_id":1444698677,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"nelfinavir","pmid":25752914,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"All patients were genotyped for CYP2C19 by RFLP analysis. Female and male patients were initially administered 750 or 900 mg/m2 gemcitabine IV over 30 min, 50 mg/m2 leucovorin IV over 30 min, and 2700 mg/m2 5-FU IV over 24 hours on day 1 weekly for 2 of 3 weeks for three cycles (day 1-63). Oral nelfinavir was given at 625 mg or 1250 mg twice daily for 3 weeks starting 2 weeks prior to initiation of radiation (days 56-75). 625 mg is better tolerated and preferred by patients. 1250 mg is the standard dose of nelfinavir when used to treat HIV patients. Metabolic ratio, as determined by AUC0\u201312 h of M8 over AUC0\u201312 h of nelfinavir, was significantly lower in CYP2C19 *1/*2 as compared to CYP2C19 *1/*1 (0.24 vs. 0.30) in the 1250 mg group.","sentence":"CYP2C19 *1/*2 is associated with decreased metabolism of nelfinavir in people with as compared to CYP2C19 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522347,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"Genotype CC is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5546852","article_title":"Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention","article_path":"articles/PMC5546852.md","variant_annotation_id":1448617616,"variant_haplotypes":"rs11086926","gene":"HNF4A","drugs":"metformin","pmid":28453780,"phenotype_category":"Efficacy","significance":"no","notes":"Subjects were at high risk of diabetes and were recruited from Diabetes Prevention Program (DPP) and were followed for a year. The authors measured changes in response to insulin at baseline and one year after treatment. Although the GG genotype was not associated with response to metformin, it was associated with changes in lifestyle as subjects with that genotype were less likely to develop diabetes compared with persons with the same genotype in the placebo (P=0.02) and metformin (P=0.02) groups.","sentence":"Genotype GG is not associated with response to metformin as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451116020,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"amprenavir, saquinavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with trough concentration of amprenavir or saquinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271199,"variant_haplotypes":"CYP2C9 poor metabolizer","gene":"CYP2C9","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP2C9 *1, *2, *3, *4, *5 and *6 alleles and then assigned metabolizer phenotypes.","sentence":"CYP2C9 poor metabolizer is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP2C9 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677354,"variant_haplotypes":"rs3759811","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides of 32.3 mg/dL (SE 9.0).","sentence":"Allele C is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6493603","article_title":"Effects of SCN1A and GABA Receptor Genetic Polymorphisms on Carbamazepine Tolerability and Efficacy in Chinese Patients with Partial Seizures: 2\u2010Year Longitudinal Clinical Follow\u2010Up","article_path":"articles/PMC6493603.md","variant_annotation_id":982023304,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":22591328,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the TT genotype have increased maintenance dose and serum levels of carbamazepine between 3 and 12 months of treatment. No significant difference between genotypes was seen between 15 and 24 months of treatment. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4476880","article_title":"\u03b2-2 Adrenergic receptor gene polymorphism and response to propranolol in cirrhosis","article_path":"articles/PMC4476880.md","variant_annotation_id":1447959492,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"propranolol","pmid":26109805,"phenotype_category":"Efficacy","significance":"yes","notes":"all patients had decrease in heart rate and variceal pressure in response to propranolol but decrease was greater in Gly16-GluGln27 group (rs1042713G)(rs1042714) compared to Arg16-Gln27, with compound heterozygotes as intermediate responders.","sentence":"Genotype GG is associated with increased response to propranolol in people with Liver Cirrhosis as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver Cirrhosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6006403","article_title":"Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma","article_path":"articles/PMC6006403.md","variant_annotation_id":1449577002,"variant_haplotypes":"rs17834628","gene":null,"drugs":"salbutamol","pmid":29509491,"phenotype_category":"Efficacy","significance":"yes","notes":"Direction of the response not explicit stated in the article.","sentence":"Allele A is associated with increased response to salbutamol in children with as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032084,"variant_haplotypes":"rs1491850","gene":"BDNF","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction).","sentence":"Genotype CC is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1450821634,"variant_haplotypes":"rs11280056","gene":"TYMS","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"no","notes":"This association was originally mapped to rs34489327 and subsequently migrated to the analogous SNP rs151264360. rs151264360 has now been merged into rs11280056. This annotation replaces VA 1184886864.","sentence":"Allele del is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6647927","article_title":"Influence of (ATP)-Binding Cassette Transporter Subfamily B Member 1 (ABCB1) Gene Polymorphism on the Efficacy of Remifentanil","article_path":"articles/PMC6647927.md","variant_annotation_id":1451118692,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"remifentanil","pmid":31346154,"phenotype_category":"Efficacy","significance":"no","notes":"No significant different in analepsia time, autonomous respiratory recovery time or orientation recovery time between patients with the AG or AA genotypes, or between patients with the AG or GG genotypes.","sentence":"Genotype AG is not associated with response to remifentanil as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372683,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"fluoxetine, paroxetine","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"A 'good' response was determined as a 50% reduction in symptoms or episode frequency during the course of the illness.; This analysis was carried out on patients who were treated with fluoxetine or paroxetine. This association remained statistically significant in the paroxetine group, but significance was lost in the fluoxetine group.","sentence":"Genotype TT is associated with decreased response to fluoxetine or paroxetine in people with Bipolar Disorder as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4209173","article_title":"Pharmacogenetics of warfarin in a paediatric population: Time in therapeutic range, initial and stable dosing, and adverse effects","article_path":"articles/PMC4209173.md","variant_annotation_id":1184473587,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":25001883,"phenotype_category":"Dosage","significance":"yes","notes":"with an approximate decrease of daily dose of 0.82mg.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin in children as compared to CYP2C9 *1.","alleles":"*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5734971","article_title":"Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment","article_path":"articles/PMC5734971.md","variant_annotation_id":1449182349,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"morphine","pmid":29259946,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"No association was observed between this variant and a patient's initial dose requirement or their need to escalate their dose of morphine.","sentence":"Allele G is not associated with dose of morphine in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2194758","article_title":"Ethnic Stratification of the Association of RGS4 Variants with Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC2194758.md","variant_annotation_id":655387138,"variant_haplotypes":"rs951439","gene":"RGS4","drugs":"quetiapine, ziprasidone","pmid":17588543,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Genotype TT is associated with increased response to quetiapine and ziprasidone in people with Schizophrenia as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3779247","article_title":"Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C","article_path":"articles/PMC3779247.md","variant_annotation_id":1444706626,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":24073221,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Allele T is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359106,"variant_haplotypes":"rs10064525","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele G is not associated with response to heroin as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157237,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"yes","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment. Patients with the CC genotype had significantly fewer positive drug screens during 24 weeks of treatment than the combined group of patients with the CT or TT genotypes.","sentence":"Genotype CC is associated with increased response to methadone in people with Opioid-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163079,"variant_haplotypes":"rs117937072","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy for rs2229109 (1199G/A).","sentence":"Allele G is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6247602","article_title":"Impact of CYP3A4*1G Polymorphism on Fentanyl Analgesia Assessed by Analgesia Nociception Index in Chinese Patients Undergoing Hysteroscopy","article_path":"articles/PMC6247602.md","variant_annotation_id":1450931972,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"fentanyl","pmid":30381583,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele is also referred to in the paper as the CYP3A4*1G allele. PharmVar reassigned *1G to *36.","sentence":"Genotype TT is associated with increased response to fentanyl in women with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC11120965","article_title":"Impact of CYP2C19 Gene Variants on Long-Term Treatment with Atorvastatin in Patients with Acute Coronary Syndromes","article_path":"articles/PMC11120965.md","variant_annotation_id":1452485100,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*4, CYP2C19*8, CYP2C19*11","gene":"CYP2C19","drugs":"atorvastatin","pmid":38791422,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Carriers of the CYP2C19*2, CYP2C19*4, and CYP2C19*8 alleles were considered poor metabolizers, while all other patients were considered normal metabolizers.\" \"The multivariable logistic regression model showed (Table 5) that poor CYP2C19 metabolizing phenotype, patient age, and smoking increased the odds of undertreatment in patients (\u2206LDL-C (mmol/L) < 1) who received standard atorvastatin cholesterol-lowering therapy.\"","sentence":"CYP2C19 *2 + *4 + *8 (assigned as poor metabolizer phenotype) is associated with decreased clinical benefit to atorvastatin in people with Cardiovascular Diseases as compared to CYP2C19 *1 + *11.","alleles":"*2 + *4 + *8","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *11","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715496,"variant_haplotypes":"rs12645107","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele A is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8880478","article_title":"Effect of GSTA1 Variants on Busulfan-Based Conditioning Regimen Prior to Allogenic Hematopoietic Stem-Cell Transplantation in Pediatric Asians","article_path":"articles/PMC8880478.md","variant_annotation_id":1452480760,"variant_haplotypes":"rs3957357","gene":"GSTA1","drugs":"busulfan","pmid":35214132,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"The carriers of the variant allele GSTA1*B had a lower CL, which in turn reduced the elimination of busulfan; this was associated with increased AUC.\" There are two variants C-69T (rs3957357) and G-52A (rs3957356) which combine to form *A and *B alleles where -69C, -52G, designated as GSTA1*A; -69T, -52A, designated as GSTA1*B.","sentence":"Allele A is associated with decreased clearance of busulfan in children with hematopoietic stem cell transplantation as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2810514","article_title":"Interleukin-6 (IL-6) haplotypes and the response to therapy of chronic hepatitis C virus infection","article_path":"articles/PMC2810514.md","variant_annotation_id":981861804,"variant_haplotypes":"rs1800796","gene":"IL6","drugs":"peginterferon alfa-2a","pmid":19387461,"phenotype_category":"Efficacy","significance":"yes","notes":"This association is as part of a haplotype which also includes rs1800797G and rs1800795G. This is a GC SNP so the listed associated allele may be incorrect.","sentence":"Allele G is associated with decreased response to peginterferon alfa-2a in people with Hepatitis C, Chronic as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603564,"variant_haplotypes":"rs1800871","gene":"IL10","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose-adjusted trough concentration was seen between patients with the AG + GG genotypes and those with the AA genotype at weeks 1, 2, 3 or 4 post-transplant. This rsID is referred to as \"rs3021097\" in the paper. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG is not associated with dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238796,"variant_haplotypes":"rs17194378","gene":"CNTN4","drugs":"ziprasidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to ziprasidone in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634117,"variant_haplotypes":"rs9933692","gene":"HS3ST4","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend but significance was not attained. Observations: 2.09 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA, 0.05 mm Hg decreased reduction of diastolic blood pressure per A allele in NORDIL (small, opposite direction effect), and 1.36 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele A is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373217,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862168,"variant_haplotypes":"rs7287550","gene":"COMT, TXNRD2","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs737866, rs5746849, rs740603, rs6269, rs2239393, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele C is associated with decreased dose of morphine in people with Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5632935","article_title":"Impact of CYP2C19 Polymorphisms on Serum Concentration of Voriconazole in Iranian Hematological Patients","article_path":"articles/PMC5632935.md","variant_annotation_id":1449146891,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":29026840,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were classified as intermediate metabolizers (IMs; n=9; *1/*2) had higher serum concentrations of voriconazole at day 4 of treatment as compared to those classified as extensive metabolizers (EMs; n=18; *1/*1) or ultrarapid metabolizers (UMs; n=8; *1/*17). Significant differences were observed when comparing IMs vs UMs (p<0.0001), IMs vs EMs (p<0.001) and EMs vs UMs (p<0.001). Patients had hematologic malignancies and were treated with voriconazole for invasive aspergillosis.","sentence":"CYP2C19 *1/*2 is associated with increased concentrations of voriconazole in people with Mycoses as compared to CYP2C19 *1/*1 + *1/*17.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":null} -{"pmcid":"PMC2896457","article_title":"Dopamine D2 receptor genetic variation and clinical response to antipsychotic drug treatment: A meta-analysis","article_path":"articles/PMC2896457.md","variant_annotation_id":769168986,"variant_haplotypes":"rs1800497","gene":"ANKK1","drugs":"antipsychotics","pmid":20194480,"phenotype_category":"Efficacy","significance":"no","notes":"in a meta-analysis.","sentence":"Allele A is not associated with response to antipsychotics in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163102,"variant_haplotypes":"rs9282564","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767382,"variant_haplotypes":"rs904323","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1184747485,"variant_haplotypes":"rs899494","gene":"ABCC4","drugs":"tenofovir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":null,"sentence":"Genotypes AA + AG is not associated with increased discontinuation of tenofovir in people with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438711,"variant_haplotypes":"rs34940374","gene":"GIMAP6","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6.0E-7.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183632007,"variant_haplotypes":"rs2776546","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was with diastolic blood pressure response. Observations: 3.24 mm Hg greater reduction of diastolic blood pressure per A allele in PEAR + GERA, 0.88mm Hg greater reduction in diastolic blood pressure per A allele in NORDIL","sentence":"Allele A is associated with increased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157250,"variant_haplotypes":"rs10753331","gene":null,"drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele A is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6014560","article_title":"Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes","article_path":"articles/PMC6014560.md","variant_annotation_id":1449295791,"variant_haplotypes":"rs254271","gene":"PRPF31","drugs":"metformin","pmid":29650774,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP is associated with changes in HbA1C when all races are combined.","sentence":"Allele C is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452240943,"variant_haplotypes":"rs5758550","gene":"WBP2NL","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Toxicity","significance":"yes","notes":"as measured by decreased in mean arterial pressure. \"homozygosity for the major allele significantly changed less in MAP during DXM sedation period than either heterozygosity or homozygosity for the minor allele (\u22128.19 \u00b1 9.96 vs. \u221212.85 \u00b1 6.68, p = 0.025). Thus, heterozygosity or homozygosity for the gene\u2019s minor allele G) may cause a higher susceptibility to the cardiovascular impact of DXM.\"","sentence":"Genotypes AG + GG is associated with increased response to dexmedetomidine in people with surgery as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3805522","article_title":"Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines","article_path":"articles/PMC3805522.md","variant_annotation_id":1184471936,"variant_haplotypes":"rs11479","gene":"TYMP","drugs":"capecitabine, fluorouracil","pmid":24167597,"phenotype_category":"Dosage","significance":"yes","notes":"Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. \"Dose\" here refers to dose modification.","sentence":"Genotypes AA + AG is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4896103","article_title":"Combination therapy with cystic fibrosis transmembrane conductance regulator modulators augment the airway functional microanatomy","article_path":"articles/PMC4896103.md","variant_annotation_id":1447981017,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor","pmid":26968770,"phenotype_category":"Efficacy","significance":"yes","notes":"Cell based assays looking at monolayers to report that F508del cells exhibit increased mucociliary transport and decreased mucus effective viscosity when ivacaftor is added to the full regimen with C18. Result not seen with ivacaftor alone or with c18 alone.","sentence":"Allele del is associated with increased response to ivacaftor in people with Cystic Fibrosis.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163153,"variant_haplotypes":"rs4986893","gene":"CYP2C19","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This corresponds to CYP2C19*3 and was very rare - zero people in the EA cohort had the variant and frequency in AA cohort was 0.001.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163561,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this was one of the variants that passed validation in both populations. Direction of effect was not stated.","sentence":"Allele T is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4461653","article_title":"ST13 polymorphisms and their effect on exacerbations in steroid-treated asthmatic children and young adults","article_path":"articles/PMC4461653.md","variant_annotation_id":1447944175,"variant_haplotypes":"rs138337","gene":"ST13","drugs":"corticosteroids","pmid":25616159,"phenotype_category":"Efficacy","significance":"yes","notes":"Outcome measured was hospital visits for airway exacerbation. Effect is additive, measured per G allele.","sentence":"Allele G is associated with decreased response to corticosteroids in children with Asthma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6505090","article_title":"Individualized treatment based on CYP3A5 single-nucleotide polymorphisms with tacrolimus in ulcerative colitis","article_path":"articles/PMC6505090.md","variant_annotation_id":1450373276,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":30704156,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the *1/*1 or *1/*3 genotype required significantly higher doses of tacrolimus in order to maintain a stable blood trough level of 10 ng/mL. The required dosages were 0.27 (*1/*1), 0.17 (*1/*3) and 0.09 ng/mL (*3/*3). The authors used these required doses in order to test whether genotype-guided tacrolimus dosing helped achieve target levels more quickly.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Arthritis, Rheumatoid or Colitis, Ulcerative as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis, Disease:Ulcerative Colitis","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5421731","article_title":"Candidate\u2010Gene Study of Functional Polymorphisms in SLCO1B1 and CYP3A4/5 and the Cholesterol\u2010Lowering Response to Simvastatin","article_path":"articles/PMC5421731.md","variant_annotation_id":1451354923,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":28482130,"phenotype_category":"Efficacy","significance":"yes","notes":"in Whites.","sentence":"Allele C is associated with decreased response to simvastatin as compared to genotype TT.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3164277","article_title":"Prolonged Half-life of Voriconazole in a CYP2C19 Homozygous Poor Metabolizer Receiving Vincristine Chemotherapy: Avoiding a Serious Adverse Drug Interaction","article_path":"articles/PMC3164277.md","variant_annotation_id":1444828207,"variant_haplotypes":"CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":21615537,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report: Patient taking normal doses of voriconazole and trough concentration elevated (6.1-6.7 mcg/ml) resulting in discontinuation of drug.","sentence":"CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased concentrations of voriconazole.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162849,"variant_haplotypes":"rs6785049","gene":"NR1I2","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele G is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114920,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and clearance of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A388G.","sentence":"Allele G is not associated with clearance of lopinavir or ritonavir in children with HIV Infections as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935713,"variant_haplotypes":"rs144928727","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the G allele was 36.2% of that of the WT protein. However, this difference was not found to be statistically significant. Variant referred to as 65A>G in the paper.","sentence":"Allele G is associated with decreased clearance of mephenytoin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11106956","article_title":"Population pharmacokinetics of primaquine and its metabolites in African males","article_path":"articles/PMC11106956.md","variant_annotation_id":1452488448,"variant_haplotypes":"G6PD deficiency","gene":"G6PD","drugs":"carboxyprimaquine, primaquine, primaquine n-carbamoyl glucuronide","pmid":38773528,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"In summary, the population pharmacokinetic properties of PQ, CPQ, and PQCG have been characterized and reported here. No statistically significant relationships were seen between the pharmacokinetic parameters and the change in haemoglobin levels in G6PD-deficient patients after a single low dose of primaquine. A single low dose (0.50 mg/kg) of PQ was haematologically safe in this population of G6PD-deficient African males without malaria.\"","sentence":"G6PD deficiency is not associated with increased concentrations of carboxyprimaquine, primaquine or primaquine n-carbamoyl glucuronide in men as compared to G6PD non-deficient.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"non-deficient"} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634138,"variant_haplotypes":"rs4074471","gene":"HS3ST4","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend but significance was not attained. Observations: 2.09 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA, 0.05 mm Hg increased reduction of diastolic blood pressure per T allele in NORDIL (opposite, though small effect), and 1.36 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3378722","article_title":"Prediction of Warfarin Dose Reductions in Puerto Rican Patients, Based on Combinatorial CYP2C9 and VKORC1 Genotypes","article_path":"articles/PMC3378722.md","variant_annotation_id":1184510108,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5","gene":"CYP2C9","drugs":"warfarin","pmid":22274142,"phenotype_category":"Dosage","significance":"yes","notes":"This variant is analyzed along with VKORC1 variants.","sentence":"CYP2C9 *1/*2 + *1/*3 + *2/*3 + *2/*2 + *1/*5 + *2/*5 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*2 + *1/*3 + *2/*3 + *2/*2 + *1/*5 + *2/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5908896","article_title":"Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC5908896.md","variant_annotation_id":1449557344,"variant_haplotypes":"rs11574077","gene":"VDR","drugs":"irinotecan","pmid":29706892,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The pharmacokinetic analysis focused on markers that, even if not presenting a significant effect in the replication cohort (p > 0.05), presented a concordant effect on the toxicity risk in both cohorts (same size effect according to the same genetic model). The association of these polymorphisms with the pharmacokinetic parameters was investigated in a subset of 71 patients from the discovery cohort, and the most relevant results (p < 0.1; concordant genetic model) .","sentence":"Genotype TT is associated with increased metabolism of irinotecan in people with Colorectal Neoplasms as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3555061","article_title":"Impact of the CYP2C8 *3 polymorphism on the drug\u2013drug interaction between gemfibrozil and pioglitazone","article_path":"articles/PMC3555061.md","variant_annotation_id":1449713452,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"pioglitazone","pmid":22625877,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Cmax","sentence":"CYP2C8 *1/*1 is not associated with concentrations of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934380,"variant_haplotypes":"rs398123226","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Asp226Glu in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8458697","article_title":"Influence of CYP2D6 and CYP3A5 Polymorphisms on the Pharmacokinetics and Pharmacodynamics of Bisoprolol in Hypertensive Chinese Patients","article_path":"articles/PMC8458697.md","variant_annotation_id":1451535660,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"bisoprolol","pmid":34568359,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant change in bisoprolol concentrations nor various blood pressure measurements due to CYP3A5 genotype categories.","sentence":"CYP3A5 *3 is not associated with response to bisoprolol in people with Hypertension as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438640,"variant_haplotypes":"rs58896682","gene":"FARP1, STK24","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6.0E-7. Listed as rs144511092 in the paper, which has been merged into rs58896682.","sentence":"Allele ATTTATTTT is not associated with clearance of tenofovir in people with HIV Infections as compared to allele ATTTT.","alleles":"ATTTATTTT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATTTT","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436720,"variant_haplotypes":"rs8099917","gene":"IFNL3, IFNL4","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele G is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4454552","article_title":"Effects of the CYP3A4*1B Genetic Polymorphism on the Pharmacokinetics of Tacrolimus in Adult Renal Transplant Recipients: A Meta-Analysis","article_path":"articles/PMC4454552.md","variant_annotation_id":1444842712,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":26039043,"phenotype_category":"Dosage","significance":"yes","notes":"The C allele (CYP3A4 *1B) was associated with a higher dose of tacrolimus at 7 days ((weight mean difference) WMD (-0.048); 95% CI: (-0.083_ -0.014), 6 months (WMD -0.058); 95% CI (-0.081_ -0.036), and 1 year (WMD -0.096_-0.027) post-transplantation.","sentence":"Allele C is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4630174","article_title":"CYP2D6 Haplotype Determination Using Long Range Allele-Specific Amplification: Resolution of a Complex Genotype and a Discordant Genotype Involving the CYP2D6*59 Allele","article_path":"articles/PMC4630174.md","variant_annotation_id":1446899270,"variant_haplotypes":"CYP2D6*2, CYP2D6*59","gene":"CYP2D6","drugs":"dextromethorphan","pmid":26335396,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"A subject with the *2/*59 diplotype had a dextromethorphan/dextrorphan urinary metabolic ratio of 0.024 with was consistent with extensive metabolizer phenotype.","sentence":"CYP2D6 *2/*59 (assigned as normal metabolizer phenotype) is not associated with decreased metabolism of dextromethorphan.","alleles":"*2/*59","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703247,"variant_haplotypes":"rs6962027","gene":"CHRM2","drugs":"fluticasone/salmeterol","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The \"major\" allele is associated with increased response. It is not clear whether that is A or T on the positive chromosomal strand.","sentence":"Allele A is associated with response to fluticasone/salmeterol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677221,"variant_haplotypes":"rs749292","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides ranging from 39.3-20.2 mg/dL using a recessive and additive model, respectively.","sentence":"Allele A is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874640,"variant_haplotypes":"rs7787082","gene":"ABCB1","drugs":"clozapine","pmid":40048458,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and benefit, PANSS beta is in Table negative. \"four SNPs in two genes were significantly associated with the total PANSS score: rs7787082 and rs10248420 in ABCB1 and rs2133251840 and rs762502 in DRD4 (Table 5). Among these, only one SNP in DRD4 (rs2133251840) resulted in different total PANSS scores at visits 3 and 4 according to its genotype\"","sentence":"Allele A is associated with increased clinical benefit to clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2950972","article_title":"Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers","article_path":"articles/PMC2950972.md","variant_annotation_id":1449161513,"variant_haplotypes":"rs2234918","gene":"OPRD1","drugs":"nalmefene","pmid":18537939,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to nalmefene in people with Alcoholism as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3330749","article_title":"Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study","article_path":"articles/PMC3330749.md","variant_annotation_id":1447519925,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19752777,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930617,"variant_haplotypes":"rs2869546","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele C is not associated with exposure to nicotine in men as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10668244","article_title":"Genotype-guided new approach for dose optimisation of hydroxychloroquine administration in Chinese patients with SLE","article_path":"articles/PMC10668244.md","variant_annotation_id":1452308466,"variant_haplotypes":"rs7910936","gene":"CYP2C8","drugs":"desethylchloroquine, hydroxychloroquine","pmid":37993281,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The C allele of CYP2C8 (rs7910936) was related to higher HCQ (p=0.001) and DCQ (p=0.014). \"","sentence":"Allele C is associated with increased concentrations of desethylchloroquine or hydroxychloroquine in people with Lupus Erythematosus, Systemic as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2681284","article_title":"Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate","article_path":"articles/PMC2681284.md","variant_annotation_id":769173673,"variant_haplotypes":"rs4673993","gene":"ATIC","drugs":"methotrexate","pmid":19193698,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613220,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was seen for time 7, 30, and 90 days after transplantation. Exposure to CC was higher than CT, which was higher than TT.","sentence":"Genotype CC is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9481373","article_title":"Tacrolimus Concentration Is Effectively Predicted Using Combined Clinical and Genetic Factors in the Perioperative Period of Kidney Transplantation and Associated with Acute Rejection","article_path":"articles/PMC9481373.md","variant_annotation_id":1451893700,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":36118414,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CT + TT (assigned as intermediate metabolizer and normal metabolizer phenotype) is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype CC (assigned as poor metabolizer phenotype) .","alleles":"CT + TT","specialty_population":null,"metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC7193447","article_title":"The influence of genetic polymorphisms in drug metabolism enzymes and transporters on the pharmacokinetics of different fluvastatin formulations","article_path":"articles/PMC7193447.md","variant_annotation_id":1451666721,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"fluvastatin","pmid":32373204,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The CYP2C9 *3 genotypes were only significantly associated with the AUC 0-24 after the first dose of IR ( P = 0.043), but not significant after repeated doses, or with those in the ER formulation settings.","sentence":"CYP2C9 *1/*3 is associated with increased concentrations of fluvastatin in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563845,"variant_haplotypes":"CYP2C19 intermediate metabolizer","gene":"CYP2C19","drugs":"phenytoin","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"We observed 23% (95% CI, 17%-30%) higher phenytoin plasma concentration in CYP2C19 intermediate metabolizers and 39% (95% CI, 24%-56%) higher phenytoin plasma concentration in CYP2C19 poor (Table 3).\" \"Abolished activity: CYP2C19*2: rs1799853 or CYP2C19*3: rs1057910\"","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with increased concentrations of phenytoin as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163182,"variant_haplotypes":"rs12571421","gene":"CYP2C19","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy SNP for rs4244285 (CYP2C19*2).","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5818817","article_title":"Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial","article_path":"articles/PMC5818817.md","variant_annotation_id":1449269204,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":28973620,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele C is associated with dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046456,"variant_haplotypes":"rs13181","gene":"ERCC2","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele G is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4872310","article_title":"Genotype-Driven Phase I Study of Irinotecan Administered in Combination With Fluorouracil/Leucovorin in Patients With Metastatic Colorectal Cancer","article_path":"articles/PMC4872310.md","variant_annotation_id":1448261674,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":20038727,"phenotype_category":"Dosage","significance":"not stated","notes":"This study provided maximum tolerated doses of irinotecan for the *1/*1 and *1/*28 genotypes. Patients with *28/*28 were excluded. The maximum tolerated doses were found to be considerably higher than the recommended irinotecan dose of 180 mg/m2. Patients with the *1/*28 variant or patients who received >= the maximum tolerated dose had a significantly increased likelihood of complete or partial response (OR=4.35 and OR=5.57, respectively). No significant differences in time to progression (TTP) were seen.","sentence":"UGT1A1 *1/*28 is associated with decreased dose of irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5176308","article_title":"Influence of Polymorphisms in the HTR3A and HTR3B Genes on Experimental Pain and the Effect of the 5-HT3 Antagonist Granisetron","article_path":"articles/PMC5176308.md","variant_annotation_id":1448995554,"variant_haplotypes":"rs1062613","gene":"HTR3A","drugs":"granisetron","pmid":28002447,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype CC is not associated with response to granisetron in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995836,"variant_haplotypes":"rs833069","gene":"VEGFA","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2794921","article_title":"A Genome-Wide Association Study of Citalopram Response in Major Depressive Disorder","article_path":"articles/PMC2794921.md","variant_annotation_id":981502459,"variant_haplotypes":"rs809736","gene":"RORA","drugs":"citalopram","pmid":19846067,"phenotype_category":"Efficacy","significance":"no","notes":"It was also associated with remission. Neither association was significant after correction (430,198 SNPs tested). Frequencies listed below are for responders vs. nonresponders. Authors point out the lack of placebo control.","sentence":"Allele G is associated with increased response to citalopram in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003351,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: TT +CT 0.41 (0.09\u201334.05)) vs. CC (0.59 (0.14\u201341.63)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10565537","article_title":"Effects of CYP3A4 and CYP2C9 genotype on systemic anastrozole and fulvestrant concentrations in SWOG S0226","article_path":"articles/PMC10565537.md","variant_annotation_id":1452234461,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"anastrozole","pmid":37615099,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For CYP3A4, only the CYP3A4*22 variant was identified, and all carriers were heterozygous (CYP3A4*1/*22) and were assigned IM phenotype and CYP3A4 low activity\" \"In the primary analysis, there was no difference in systemic anastrozole concentrations between low and high CYP3A4 activity phenotype groups (p = 0.13; Table 2 & Figure 1A). However, the posthoc analysis revealed the expected association of low CYP3A4 activity with higher anastrozole concentration in the anastrozole-only arm\"","sentence":"CYP3A4 *1/*22 (assigned as intermediate metabolizer phenotype) is associated with decreased concentrations of anastrozole in people with Breast Neoplasms and Neoplasm Metastasis as compared to CYP3A4 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*22","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Breast Neoplasms, Other:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4636889","article_title":"Polymorphisms within the human leucocyte antigen-E gene and their associations with susceptibility to rheumatoid arthritis as well as clinical outcome of anti-tumour necrosis factor therapy","article_path":"articles/PMC4636889.md","variant_annotation_id":1447947702,"variant_haplotypes":"rs1264457","gene":"HLA-E","drugs":"adalimumab, certolizumab pegol, etanercept, glucocorticoids, infliximab, methotrexate","pmid":26307125,"phenotype_category":"Efficacy","significance":"yes","notes":"Response measured after 12 weeks of treatment. Alleles described as HLA-E *01:03:01 and *01:03:02.","sentence":"Genotype AA is associated with increased response to adalimumab, certolizumab pegol, etanercept, glucocorticoids, infliximab or methotrexate in women with Arthritis, Rheumatoid as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6562943","article_title":"Patients carrying CYP2C8*3 have shorter systemic paclitaxel exposure","article_path":"articles/PMC6562943.md","variant_annotation_id":1450186361,"variant_haplotypes":"CYP2C8*4","gene":"CYP2C8","drugs":"paclitaxel","pmid":30520341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"as measured by time above threshold concentration. CYP2C8*1/*4 or CYP2C8*4/*4 mean = 10.25 h, *1/*1 mean = 11.03 h.","sentence":"CYP2C8 *4 is not associated with increased exposure to paclitaxel in women with Breast Neoplasms.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2949522","article_title":"Gamma-glutamyl carboxylase and its influence on warfarin dose","article_path":"articles/PMC2949522.md","variant_annotation_id":769168957,"variant_haplotypes":"rs11676382","gene":"GGCX","drugs":"warfarin","pmid":20694283,"phenotype_category":"Dosage","significance":"yes","notes":"This variant was associated with a 6.1% reduction in warfarin dose per G allele.The clinical impact was modest.","sentence":"Allele G is associated with decreased dose of warfarin as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919608,"variant_haplotypes":"rs11188082","gene":"CYP2C19","drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"measured as decreased S-warfarin/R-warfarin ratio and using a genome wide significance threshold of < 3.846 \u00d7 10\u22129. Effect direction from supplementary table S14.","sentence":"Allele T is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3672984","article_title":"Association of a Single-Nucleotide Polymorphism in the Pregnane X Receptor (PXR 63396C\u2192T) with Reduced Concentrations of Unboosted Atazanavir","article_path":"articles/PMC3672984.md","variant_annotation_id":1448617361,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"atazanavir","pmid":18831695,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median Ctrough was lower in individuals with the TT genotype in cohort A (N=47) versus CC+CT genotypes (34 ng/mL [IQR, 25\u201363 ng/mL] vs. 152 ng/mL (IQR, 47\u2013388 ng/mL; P = .001). In cohort B the TT genotype was also associated with sub-therapeutic ATV concentrations (<150 ng/mL).","sentence":"Genotype TT is associated with decreased concentrations of atazanavir in people with HIV Infections as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3703617","article_title":"Polymorphisms of the \u00b5-opioid receptor and dopamine D4 receptor genes and subjective responses to alcohol in the natural environment","article_path":"articles/PMC3703617.md","variant_annotation_id":1450812611,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":20141248,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of the G allele reported significantly higher vigor scores and significantly lower negative mood scores after drinking as compared with AA subjects.","sentence":"Genotypes AG + GG are associated with increased response to ethanol as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC8975736","article_title":"Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota","article_path":"articles/PMC8975736.md","variant_annotation_id":1451692660,"variant_haplotypes":"rs1056837","gene":"CYP1B1","drugs":"codeine, tramadol","pmid":35102242,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased clinical benefit to codeine or tramadol in men with Pain as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4375304","article_title":"Inherited NUDT15 Variant Is a Genetic Determinant of Mercaptopurine Intolerance in Children With Acute Lymphoblastic Leukemia","article_path":"articles/PMC4375304.md","variant_annotation_id":1444703337,"variant_haplotypes":"rs1142345","gene":"TPMT","drugs":"mercaptopurine","pmid":25624441,"phenotype_category":"Dosage","significance":"yes","notes":"Decreased dosage was likely to be due to increased toxicity. The authors also calculated a genetic risk score based on genotype at rs1142345 and at rs116855232. Patients who were homozygous wild-type at both SNPs had the lowest genetic risk score and patients who were homozygous for the variant allele at either SNP had the highest genetic risk score. There was an inverse significant association between genetic risk score and dose reduction of mercaptopurine.","sentence":"Genotype CC is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862254,"variant_haplotypes":"rs165728","gene":"ARVCF, COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs2239393, rs4818, rs4680, rs174699, rs740603). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele T is associated with decreased dose of morphine in people with Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8263746","article_title":"NUDT15 polymorphism influences the metabolism and therapeutic effects of acyclovir and ganciclovir","article_path":"articles/PMC8263746.md","variant_annotation_id":1451491077,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5","gene":"NUDT15","drugs":"acyclovir","pmid":34234136,"phenotype_category":"Efficacy","significance":"yes","notes":"The degrees of loss of NUDT15 activity is associated with improved anti-CMV effect of acyclovir. Patients with low NUD15 activity in either donor or recipient cells showed the greatest protection against CMV by ACY treatment, with viremia frequency of 20%.","sentence":"NUDT15 *2/*2 +*2/*3 +*3/*3 + *5/*5 (assigned as poor metabolizer phenotype) are associated with increased response to acyclovir as compared to NUDT15 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2 +*2/*3 +*3/*3 + *5/*5","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3249179","article_title":"The relationship between clinical pharmacokinetics of aripiprazole and CYP2D6 genetic polymorphism: effects of CYP enzyme inhibition by coadministration of paroxetine or fluvoxamine","article_path":"articles/PMC3249179.md","variant_annotation_id":1183697486,"variant_haplotypes":"CYP2D6*1, CYP2D6*10, CYP2D6*21","gene":"CYP2D6","drugs":"aripiprazole","pmid":21739267,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The coadministration of paroxetine caused a much larger decrease in aripiprazole metabolism in extensive metabolizers as compared to intermediate metabolizers (CL/F decrease: 58% v 23%; Cmax increase: 39% v 27%; and AUC increase: 140% v 30%; respectively).","sentence":"CYP2D6 *1/*1 + *1/*10 (assigned as normal metabolizer phenotype) are associated with decreased metabolism of aripiprazole in healthy individuals also being given paroxetine as compared to CYP2D6 *10/*10 + *10/*21 (assigned as intermediate metabolizer phenotype) .","alleles":"*1/*1 + *1/*10","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":"Other:also being given paroxetine","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*10/*10 + *10/*21","comparison_metabolizer_types":"intermediate metabolizer"} -{"pmcid":"PMC4015881","article_title":"Association of GGCX gene polymorphism with warfarin dose in atrial fibrillation population in Xinjiang","article_path":"articles/PMC4015881.md","variant_annotation_id":1184513812,"variant_haplotypes":"rs2592551","gene":"GGCX","drugs":"warfarin","pmid":24148610,"phenotype_category":"Dosage","significance":"yes","notes":"Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AA + AG is associated with increased dose of warfarin in people with Atrial Fibrillation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928150,"variant_haplotypes":"rs4633","gene":"COMT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele T is associated with decreased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144274,"variant_haplotypes":"rs209474","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3775655","article_title":"The pharmacokinetics of codeine and its metabolites in Blacks with sickle cell disease","article_path":"articles/PMC3775655.md","variant_annotation_id":1447963867,"variant_haplotypes":"CYP2D6*17","gene":"CYP2D6","drugs":"codeine","pmid":19357842,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Plasma concentrations of the codeine metabolites M3G and M6G were significantly reduced in carriers of this allele, compared to other genotypes examined (non-carriers, *29 and *41 carriers).","sentence":"CYP2D6 *17 is associated with decreased metabolism of codeine in people with Anemia, Sickle Cell.","alleles":"*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4931969","article_title":"Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment","article_path":"articles/PMC4931969.md","variant_annotation_id":1447680633,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"corticosteroids","pmid":26774659,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to corticosteroids in children with Asthma as compared to genotype GG.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11677811","article_title":"Pharmacogenetics of Neoadjuvant MAP Chemotherapy in Localized Osteosarcoma: A Study Based on Data from the GEIS-33 Protocol","article_path":"articles/PMC11677811.md","variant_annotation_id":1452809560,"variant_haplotypes":"rs1799793","gene":"ERCC2","drugs":"cisplatin, doxorubicin, methotrexate","pmid":39771563,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles complemented. \"For ERCC2 rs1799793, 45.2% of patients with the GG genotype presented poor pathological response, compared to 74.3% of patients with the GA or AA genotypes (p = 0.02 in a dominant model).\" \"Multivariate analyses including these two SNPs and age, gender and tumor site as covariates showed significant associations for both genetic variants: ABCC2 rs2273697 (OR 12.3, 95% CI 2.3\u201366.2; p = 0.003) and ERCC2 rs1799793 (OR 9.6, 95% CI 2.1\u201343.2; p = 0.003). However, these associations were not statistically significant after the Bonferroni test.\" \"Pathological response classification was dichotomized into good response (tumor necrosis \u2265 90%) and poor response (tumor necrosis (<90%). \"","sentence":"Genotypes CT + TT is associated with decreased clinical benefit to cisplatin, doxorubicin and methotrexate in people with Osteosarcoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705502,"variant_haplotypes":"rs11881222","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes AG + GG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3260990","article_title":"Smoking Cessation Pharmacogenetics: Analysis of Varenicline and Bupropion in Placebo-Controlled Clinical Trials","article_path":"articles/PMC3260990.md","variant_annotation_id":1450813798,"variant_haplotypes":"rs7164594","gene":"HYKK","drugs":"varenicline","pmid":22048466,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CT or TT genotypes were more likely to have quit smoking in weeks 9-12 of varenicline treatment. However, this association was not seen when smoking abstinence up to week 52 of follow-up was analyzed.","sentence":"Genotypes CT + TT are associated with increased response to varenicline in people with Tobacco Use Disorder as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6171340","article_title":"Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy","article_path":"articles/PMC6171340.md","variant_annotation_id":1451134060,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"lamotrigine","pmid":28165634,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by minor allele frequency in not\u2013seizure\u2010free vs seizure-free children. Alleles complemented to plus chromosomal strand.","sentence":"Allele A is associated with decreased clinical benefit to lamotrigine in children with Epilepsy as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Efficacy:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5734971","article_title":"Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment","article_path":"articles/PMC5734971.md","variant_annotation_id":1449182301,"variant_haplotypes":"rs1051660","gene":"OPRK1","drugs":"morphine","pmid":29259946,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.; An association was observed between this variant and a patient's need to escalate their dose of morphine, but there was no association between this variant and a patient's initial dose requirement.","sentence":"Allele A is associated with decreased dose of morphine in people with Pain as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639192,"variant_haplotypes":"rs2284220","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with decreased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1451928900,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"and lower AUC0-\u221e/DW and Cmax which remained significant after Bonferroni.","sentence":"Genotype AA is associated with decreased concentrations of rasagiline in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491521,"variant_haplotypes":"rs871606","gene":"CHIC2","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele T is not associated with response to atenolol in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5324942","article_title":"The effect of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirements in a pediatric population","article_path":"articles/PMC5324942.md","variant_annotation_id":1448104673,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":27182616,"phenotype_category":"Dosage","significance":"yes","notes":"The average daily warfarin dose required for maintenance therapy in patients with the CYP2C9*3was 3.98\u00b11.13, whereas it was 4.40\u00b11.39 in those without this mutation.","sentence":"CYP2C9 *3 is associated with decreased dose of warfarin in children as compared to CYP2C9 *1/*1.","alleles":"*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10917709","article_title":"Cytotoxic T lymphocyte\u2010associated antigen\u20104 (CTLA-4) gene polymorphisms in a cohort of Egyptian patients with immune thrombocytopenia (ITP)","article_path":"articles/PMC10917709.md","variant_annotation_id":1452421300,"variant_haplotypes":"rs3087243","gene":"CTLA4","drugs":"avatrombopag, corticosteroids, eltrombopag, rituximab","pmid":38485815,"phenotype_category":"Efficacy","significance":"no","notes":"\"There was no correlation between CTLA-4 (rs: 231775 and rs: 3087243) A/G SNPs were not correlated to the response to all lines of therapy assessed (corticosteroids, thrombopoietin receptor agonists, splenectomy, and rituximab).\"","sentence":"Allele G is not associated with increased clinical benefit to avatrombopag, corticosteroids, eltrombopag or rituximab Thrombocytopenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":"Other:Thrombocytopenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622326,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in median 24 hour intragastric pH or serum gastrin area under the concentration-time curve from 0-24 hours (AUC0-24) were seen between the two genotype groups. Subjects were given rabeprazole for 8 days; 24 hour intragastric pH and serum gastrin AUC were measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 and *3 alleles were referred to by their previous designations (CYP2C19*m1 and *m2, respectively).","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in healthy individuals as compared to CYP2C19 *1/*2 + *1/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161652,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in concentrations of (R)-, (S)- or (R,S)-methadone between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are not associated with concentrations of methadone in people with Opioid-Related Disorders as compared to CYP2C9 *1/*1 + *1/*2.","alleles":"*1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1450950820,"variant_haplotypes":"rs1801159","gene":"DPYD","drugs":"FOLFIRI, FOLFOX, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"Genotypes CC + CT is not associated with response to FOLFIRI, FOLFOX, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449716007,"variant_haplotypes":"rs2302663","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC1773505","article_title":"Safe treatment of thiopurine S-methyltransferase deficient Crohn\u2019s disease patients with azathioprine","article_path":"articles/PMC1773505.md","variant_annotation_id":1184174025,"variant_haplotypes":"TPMT*1, TPMT*3A","gene":"TPMT","drugs":"azathioprine","pmid":12477776,"phenotype_category":"Dosage, Efficacy, Toxicity","significance":"not stated","notes":"Toxicity could be avoided and treatment was still effective if the azathioprine dose was dramatically lowered.","sentence":"TPMT *3A/*3A is associated with decreased dose of azathioprine in people with Crohn Disease as compared to TPMT *1/*1.","alleles":"*3A/*3A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Crohn Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10159199","article_title":"Effect of ERCC1 polymorphisms on the response to platinum-based chemotherapy: A systematic review and meta-analysis based on Asian population","article_path":"articles/PMC10159199.md","variant_annotation_id":1452094881,"variant_haplotypes":"rs3212986","gene":"ERCC1","drugs":"Platinum compounds","pmid":37141338,"phenotype_category":"Efficacy","significance":"no","notes":"Authors perform meta-analysis using several models looking at response and OS and subgroup analysis by cancer type.","sentence":"Genotypes AA + AC is not associated with increased clinical benefit to Platinum compounds in people with Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11852071","article_title":"Pharmacogenetics and Pharmacokinetics of Moxifloxacin in MDR-TB Patients in Indonesia: Analysis for ABCB1 and SLCO1B1","article_path":"articles/PMC11852071.md","variant_annotation_id":1452864447,"variant_haplotypes":"rs4149015","gene":"SLCO1B1","drugs":"moxifloxacin","pmid":40001447,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"This study found no association between genotype variations in ABCB1 and SLCO1B1 and the AUC0\u201324 and Cmax of moxifloxacin. Still, the analysis on SLCO1B1 rs4149015 revealed a trend that patients with the GA genotype exhibited a higher moxifloxacin AUC0\u201324 and Cmax than those with the GG genotype (Table 4). \"","sentence":"Genotype AG is associated with increased exposure to moxifloxacin in people with Drug Resistance and Tuberculosis as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Drug Resistance, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705070,"variant_haplotypes":"rs11881222","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype AA is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451918980,"variant_haplotypes":"rs7900194","gene":"CYP2C9","drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"for S-warfarin stereoisomer in particular, measured as increased S-warfarin/R-warfarin ratio and decreased S-7OH-warfarin/S-warfarin and using a Bonferroni-adjusted replication significance threshold p < 3.21 \u00d7 10\u22124. (CYP2C9*8)","sentence":"Allele A is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451727960,"variant_haplotypes":"rs77235035","gene":"PEAR1","drugs":"ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"this was only significant for AA vs AC, but not AA vs CC. Authors state \"A/A carriers than among A/C carriers (P ANOVA < 0.05), but not among C/C carriers; hence, this SNP was excluded from multivariate analysis\"","sentence":"Genotype AA is associated with decreased concentrations of ticagrelor in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC1978168","article_title":"The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis","article_path":"articles/PMC1978168.md","variant_annotation_id":982046905,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"codeine","pmid":17517247,"phenotype_category":"Efficacy","significance":"yes","notes":"Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.","sentence":"CYP2D6 *4 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.","alleles":"*4","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105620,"variant_haplotypes":"rs9024","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype GG is associated with decreased concentrations of doxorubicin in people with Breast Neoplasms as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":699638975,"variant_haplotypes":"rs4148947","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper, since frequencies are close have low confidence in this allele assignment)","sentence":"Allele T is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3909010","article_title":"Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes","article_path":"articles/PMC3909010.md","variant_annotation_id":1183771932,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":24497997,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Apparent clearance was 1.74 fold higher for CYP2B6 *1/*6 compared to CYP2B6 *6/*6.","sentence":"CYP2B6 *1/*6 is associated with increased metabolism of efavirenz in people with HIV as compared to CYP2B6 *6/*6.","alleles":"*1/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*6/*6","comparison_metabolizer_types":null} -{"pmcid":"PMC11158672","article_title":"Influence of ABCB1 and ABCG2 polymorphisms on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11158672.md","variant_annotation_id":769250973,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"doxorubicin","pmid":18377430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significance given for the haplotype of ABCB1 c.1236C>T, c.2677G>A/T, and c.3435C>T (rs1128503, rs2032582 and rs1045642) which was associated with increased drug exposure and reduced clearance. Patients harboring the CC-GG-CC genotypes had significantly lower peak plasma concentrations of doxorubicinol compared to patients who had TT-TT-TT genotypes (P = 0.03).","sentence":"Genotype AA is associated with decreased metabolism of doxorubicin in people with Breast Neoplasms as compared to genotype CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4693492","article_title":"Personalizing initial calcineurin inhibitor dosing by adjusting to donor CYP3A\u2010status in liver transplant patients","article_path":"articles/PMC4693492.md","variant_annotation_id":1446899545,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"cyclosporine, tacrolimus","pmid":26271661,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"The genotype refers to the genotype of the donor liver. Patients who were recipients of a liver transplantation from a donor with the CC genotype AND low or intermediate CYP3A4 mRNA levels had significantly higher plasma concentrations of cyclosporine or tacrolimus as compared to patients who whose liver donors had the rs776746 CC genotype AND high CYP3A4 mRNA levels, or rs776746 CT/TT genotypes regardless of CYP3A4 mRNA levels.","sentence":"Genotype CC is associated with increased concentrations of cyclosporine or tacrolimus in people with liver transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755929,"variant_haplotypes":"rs1057451","gene":"LRP1","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2949522","article_title":"Gamma-glutamyl carboxylase and its influence on warfarin dose","article_path":"articles/PMC2949522.md","variant_annotation_id":769168963,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"warfarin","pmid":20694283,"phenotype_category":"Dosage","significance":"no","notes":"This variant was not a significant predictor of warfarin dose","sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359466,"variant_haplotypes":"rs5320","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of heroin in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6493603","article_title":"Effects of SCN1A and GABA Receptor Genetic Polymorphisms on Carbamazepine Tolerability and Efficacy in Chinese Patients with Partial Seizures: 2\u2010Year Longitudinal Clinical Follow\u2010Up","article_path":"articles/PMC6493603.md","variant_annotation_id":982023280,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":22591328,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC and CT genotypes have increased tolerability to carbamazepine. Tolerability was assessed by retention rates, or the proportion of patients that continued to take carbamazepine for seizures over the preceding 3 months. Patients were assessed every 3 months for 24 months. The retention rates for the CC + CT genotypes were significantly greater than the retention rate for the TT genotype during months 9 - 15 of treatment. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are associated with increased response to carbamazepine in people with Epilepsy as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC1251635","article_title":"A C1173T Dimorphism in the VKORC1 Gene Determines Coumarin Sensitivity and Bleeding Risk","article_path":"articles/PMC1251635.md","variant_annotation_id":1043737589,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"acenocoumarol, phenprocoumon","pmid":16201835,"phenotype_category":"Dosage, Toxicity","significance":"yes","notes":"Patients homozygous for the G allele required significantly higher doses to reach stable anticoagulation as compared to patients carrying the A allele. There was a gene dose effect: GG>AG>AA. It was also seen that patients carrying the A allele were at significantly higher risk of developing bleeding as compared to patients homozygous for the G allele (OR below is for major hemorrhage for carriers of at least one A allele). Patients taking phenprocoumon seemed to be more likely to achieve stability in their dose, but were also more likely to develop bleeding than patients receiving acenocoumarol.","sentence":"Genotype GG is associated with increased dose of acenocoumarol or phenprocoumon as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636673,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes AA + AG are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3107291","article_title":"Human Mu Opioid Receptor (OPRM1 A118G) polymorphism is associated with brain mu-opioid receptor binding potential in smokers","article_path":"articles/PMC3107291.md","variant_annotation_id":1450812933,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":21576462,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in subjective reward from nicotine between the genotype groups.","sentence":"Allele G is not associated with response to nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5483245","article_title":"Independent and interactive effects of OPRM1 and DAT1 polymorphisms on alcohol consumption and subjective responses in social drinkers","article_path":"articles/PMC5483245.md","variant_annotation_id":1450826488,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":28376280,"phenotype_category":"Toxicity","significance":"yes","notes":"Subjects carrying the G allele had a significantly decreased odds ratio for reporting more heavy drinking days compared to subjects with the AA genotype. There was no significant association between rs1799971 and number of drinks per drinking day or number of drinking days.","sentence":"Genotypes AG + GG is associated with decreased exposure to ethanol in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046503,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"This association was only significant in the Asian population. When studied together with the Caucasian population significance was lost.","sentence":"Genotype AA is associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703536,"variant_haplotypes":"rs3213619","gene":"ABCB1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving complete molecular response (CMR), major cytogenetic response (MCgR) or complete cytogenetic response (CCgR) within 12 months. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%. Cytogenetic response was based on bone marrow assessment, where CCgR was 0% Ph+ cells. MCgR was defined as achieving either a complete or partial cytogenetic response (CCgR; PCgR), where PCgR was >0 to 35% Ph+ cells.","sentence":"Genotype AA is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3836273","article_title":"The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions","article_path":"articles/PMC3836273.md","variant_annotation_id":982037675,"variant_haplotypes":"rs4238001","gene":"SCARB1","drugs":"fenofibrate","pmid":18542840,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects carrying the T allele had a significantly greater decrease in triglyceride levels and a significantly greater increase in high density lipoprotein cholesterol (HDL-C) levels after fenofibrate treatment for 3 weeks, as compared to CC homozygotes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359501,"variant_haplotypes":"rs27072","gene":"SLC6A3","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501809,"variant_haplotypes":"rs4148740","gene":"ABCB1","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by a higher carbamazepine-10,11-transdihydrodiol:carbamazepine-10-11 epoxide metabolite ratio. This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Genotype AG is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC1975838","article_title":"Genetic-based dosing in orthopedic patients beginning warfarin therapy","article_path":"articles/PMC1975838.md","variant_annotation_id":1183699310,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":17387222,"phenotype_category":"Dosage","significance":"yes","notes":"*2 was associated with 17.4 %(95% CI 8.3-25.6%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to CYP2C9 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:total knee or hip arthroplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612424,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele A is not associated with clearance of talinolol in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5862636","article_title":"Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans","article_path":"articles/PMC5862636.md","variant_annotation_id":1448573250,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28135054,"phenotype_category":"Dosage","significance":"yes","notes":"in African American patients.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175504,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele T is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1452053742,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in response (HAMD) in patients receiving escitalopram.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to escitalopram in people with Depression as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449251734,"variant_haplotypes":"rs6046","gene":"F7","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863309,"variant_haplotypes":"rs11545078","gene":"GGH","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981739388,"variant_haplotypes":"rs292449","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"yes","notes":"CC and CG patients had significantly greater reduction in Systolic and in Diastolic Blood pressure than those with GG genotype. A significant association was also seen between the haplotype rs4149601G/rs292449C and greater response to hydrachlorothiazide in Whites. The GC SNP creates ambiguity in knowing which strand is being reported on. The SNP is in a positive chromosomal strand gene, so hopefully the genotypes are being reported in relation to the positive strand.","sentence":"Genotypes CC + CG are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5346382","article_title":"Effects of FMO3 Polymorphisms on Pharmacokinetics of Sulindac in Chinese Healthy Male Volunteers","article_path":"articles/PMC5346382.md","variant_annotation_id":1448613020,"variant_haplotypes":"rs2266782","gene":"FMO3","drugs":"sulindac","pmid":28331852,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Measures of exposure were AUC, Cmax, Tmax, and T1/2.","sentence":"Genotype AA is associated with increased exposure to sulindac in healthy individuals as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114760,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and AUC0-12 of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A6986G.","sentence":"Allele C is not associated with exposure to lopinavir or ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896040,"variant_haplotypes":"rs239022","gene":"LINC00478","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5807179","article_title":"Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences","article_path":"articles/PMC5807179.md","variant_annotation_id":1448996481,"variant_haplotypes":"rs12459249","gene":null,"drugs":"nicotine","pmid":28921760,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Nicotine metabolism was assessed by measuring participants' nicotine metabolite ratio.","sentence":"Allele C is associated with decreased metabolism of nicotine as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3506814","article_title":"Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population","article_path":"articles/PMC3506814.md","variant_annotation_id":1183699677,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"bevacizumab","pmid":23204795,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in change in central macular thickness (measured by optical coherence tomography) were seen between any the genotypes, over either 6 or 12 months of treatment.","sentence":"Genotypes GT + TT are not associated with response to bevacizumab in people with Macular Degeneration as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4304713","article_title":"Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses","article_path":"articles/PMC4304713.md","variant_annotation_id":1444694062,"variant_haplotypes":"rs11959113","gene":null,"drugs":"fentanyl","pmid":25615449,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.","sentence":"Genotype AA is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767407,"variant_haplotypes":"rs3002130","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5763318","article_title":"Pharmacokinetics and Safety of Brexpiprazole Following Multiple\u2010Dose Administration to Japanese Patients With Schizophrenia","article_path":"articles/PMC5763318.md","variant_annotation_id":1451230740,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"brexpiprazole","pmid":28750151,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"15 and 6 patients were classified as NMs (genotypes including at least 1 active allele) and IMs (genotypes with 2 decreased-activity alleles or 1 decreased-activity allele and 1 inactive allele or 1decreased-activity allele and 1 unknown-activity allele). Metabolic activity was defined as the normal alleles *1 and *2, the decreased-activity alleles *10 and *41, the inactive alleles *4, *5, and *14A, and the unknown-activity alleles *14B, *18, and *21. For PK parameters of brexpiprazole, both Cmax/D and AUC24h/D were higher in IM patients than in EM patients. The Cmax and AUC24h in EM and IM patients of brexpiprazole following multiple administrations of brexpiprazole were 2.6\u20132.8 and 4.5\u20135.8 times higher, respectively, on day 14 compared with day 1 based on the accumulation index. CL/F waslower in IM patients than in EM patients.","sentence":"CYP2D6 intermediate metabolizer is associated with decreased metabolism of brexpiprazole in people with Schizophrenia as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639201,"variant_haplotypes":"rs255100","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele of this variant is associated with reduced bronchodilator response in CAMP cohort. However, this association is not significant in the other two cohorts tested.","sentence":"Allele A is associated with decreased response to salbutamol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114966,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and clearance of ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as T512C.","sentence":"Allele C is not associated with clearance of ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356769,"variant_haplotypes":"rs28362491","gene":"NFKB1","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele (ATTG)1 is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele ATTGATTG.","alleles":"(ATTG)1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATTGATTG","comparison_metabolizer_types":null} -{"pmcid":"PMC5562097","article_title":"Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers","article_path":"articles/PMC5562097.md","variant_annotation_id":1450936406,"variant_haplotypes":"rs1042028","gene":"SULT1A1","drugs":"acetaminophen","pmid":28663312,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Metabolism here, refers to AUC ratio of Sulfate: APAP. Association was nominally significant initially, but did not remain statistically significant in multiple linear regression. The T allele is also referred to as the *2 allele. Please note: alleles have been complemented to the + chromosomal strand. This variant was originally mapped to rs9282861, which has now been merged into rs1042028.","sentence":"Genotype TT is not associated with decreased metabolism of acetaminophen in healthy individuals as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10309098","article_title":"Pharmacogenetic interactions of efavirenz or rifampin and isoniazid with levonorgestrel emergency contraception during treatment of HIV or tuberculosis","article_path":"articles/PMC10309098.md","variant_annotation_id":1452472967,"variant_haplotypes":"NAT2 intermediate acetylator","gene":"NAT2","drugs":"levonorgestrel","pmid":37306344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Study investigated the effect on steady-state drugs used to treat HIV or tuberculosis on the pharmacokinetics of single dose levonorgestrel. Association found in the cohort treated with Isoniazid and rifampin.; Intermediate acetylators were defined as heterozygous for the NAT2*5, *6, *7 or *14 alleles.","sentence":"NAT2 intermediate acetylator is not associated with clearance of levonorgestrel in women with Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate acetylator","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} -{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648769,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Dosage","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs34059508 and rs34130495. No significant association between haplotypes and PCA doses of morphine.","sentence":"Allele del is not associated with dose of morphine in people with Pain, Postoperative as compared to allele GAT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT","comparison_metabolizer_types":null} -{"pmcid":"PMC4959996","article_title":"ABCC3 Genetic Variants are Associated with Postoperative Morphine-induced Respiratory Depression and Morphine Pharmacokinetics in Children","article_path":"articles/PMC4959996.md","variant_annotation_id":1450342045,"variant_haplotypes":"rs4148412","gene":"ABCC3","drugs":"morphine-3-glucuronide","pmid":26810133,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant was not significant in the spine surgery cohort. Increases in M6G were also observed but were not significant in either cohort. Alleles were described in paper as A and G, with AA for risk genotype.","sentence":"Genotype TT is associated with increased concentrations of morphine-3-glucuronide in children with tonsillectomy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:tonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC2673121","article_title":"Relative contribution of CYP2C9 and VKORC1 genotypes and early INR response to the prediction of warfarin sensitivity during initiation of therapy","article_path":"articles/PMC2673121.md","variant_annotation_id":1447573633,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":19074728,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166015,"variant_haplotypes":"rs10420097","gene":"ZNF211","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613226,"variant_haplotypes":"rs4646437","gene":"CYP3A4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was seen for time 7, 30, and 90 days after transplantation. Exposure to CC was higher than CT, which was higher than TT.","sentence":"Genotype GG is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003516,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine were not significantly different and no more likely to have median concentrations of lumefantrine >600 ng/ml between genotypes.","sentence":"Allele C is not associated with concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238701,"variant_haplotypes":"rs11774231","gene":null,"drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to perphenazine in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973946,"variant_haplotypes":"rs2046934","gene":"P2RY12","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":"no AA individuals were observed.","sentence":"Genotype AG is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451115880,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"amprenavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association was significant in white patients treated with fosamprenavir only. Only 3 Hispanic patients carried the C allele, so statistical analysis could not be carried out. However, the authors note that these patients also tended to have low trough concentrations of amprenavir.","sentence":"Allele C is associated with decreased trough concentration of amprenavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5378677","article_title":"A genetic variant in Rassf1a predicts outcome in mCRC patients treated with cetuximab plus chemotherapy: results from FIRE-3 and JACCRO 05 and 06 trials","article_path":"articles/PMC5378677.md","variant_annotation_id":1449750606,"variant_haplotypes":"rs3811715","gene":"WWTR1","drugs":"cetuximab","pmid":27698403,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in tumor response, progression-free survival or overall survival was seen between the genotype groups. Patients also receiving treatment with fluorouracil, leucovorin and irinotecan (FOLFIRI). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with response to cetuximab in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491528,"variant_haplotypes":"rs3184504","gene":"SH2B3","drugs":"hydrochlorothiazide","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele T is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4432150","article_title":"Influence of ABCC2 and ABCC4 Polymorphisms on Tenofovir Plasma Concentrations in Thai HIV-Infected Patients","article_path":"articles/PMC4432150.md","variant_annotation_id":1444703280,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"tenofovir","pmid":25801567,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CT + TT is not associated with concentrations of tenofovir in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4533232","article_title":"Investigation of CYP 3A5 and ABCB1 gene polymorphisms in the long-term following renal transplantation: Effects on tacrolimus exposure and kidney function","article_path":"articles/PMC4533232.md","variant_annotation_id":1447674287,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":26622455,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose, trough concentrations or dose-adjusted trough concentrations of tacrolimus were seen between the genotype groups, when adjusting for the influence of the CYP3A5 *3/*3 genotype (i.e. individuals who were carriers of the *1/*3 genotype, or \"expressers\", were excluded from the analysis). Prior to adjustment for the influence of *3/*3, those with the AG or GG genotype had decreased dose-adjusted trough concentrations of tacrolimus at 24 months post transplant and increased dose requirements at 6 months post-transplant (p<0.05).","sentence":"Genotypes AG + GG is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4500334","article_title":"Pharmacogenetics of plasma efavirenz exposure in HIV-infected adults and children in South Africa","article_path":"articles/PMC4500334.md","variant_annotation_id":1446905210,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":25611810,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considered as part of a composite (rs3745274 T, rs28399499 C, and rs4803419 T), the C allele was strongly associated with plasma efavirenz concentrations (plasma [EFV]) [beta=0.28, 95% CI (0.21, 0.35) p=2.4 E-11]. In a final multivariable model the C allele was associated with a 46% increased in plasma [EFV] (beta=0.27). Post-hoc sensitivity analysis, in which two extreme outliers were excluded from analysis (N=111), showed that the C allele was associated with a 48% increase in plasma [EFV]. Multi-level mixed effects models predicted plasma [EFV] as a function of 1) fixed age effect, time after dose, CYP2B6 composite genotype T,C,T and 2) random effects of the individual to account for w/in individual correlations, genotype CT was associated with a 2.1 fold increase in plasma [EFV].","sentence":"Allele C is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4867099","article_title":"Pharmacogenetics of unboosted atazanavir in HIV-infected individuals in resource-limited settings: a sub-study of the AIDS Clinical Trials Group (ACTG) PEARLS study (NWCS 342)","article_path":"articles/PMC4867099.md","variant_annotation_id":1447947662,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"atazanavir","pmid":26892777,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Looked at CL/F, concentration at 24 hours, and ratios of metabolites M1 and M2 to atazanavir. No CC genotypes identified.","sentence":"Genotype CT (assigned as deficiency phenotype) is not associated with concentrations of atazanavir in people with HIV Infections as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4055378","article_title":"Prediction of Methotrexate Clinical Response in Portuguese Rheumatoid Arthritis Patients: Implication of MTHFR rs1801133 and ATIC rs4673993 Polymorphisms","article_path":"articles/PMC4055378.md","variant_annotation_id":1451258120,"variant_haplotypes":"rs4673993","gene":"ATIC","drugs":"methotrexate","pmid":24967362,"phenotype_category":"Efficacy","significance":"yes","notes":"\"ATIC 675T carriers were associated with over 4-fold increased risk for nonresponse. \"","sentence":"Genotype CC is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6132901","article_title":"NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study","article_path":"articles/PMC6132901.md","variant_annotation_id":1449575844,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"azathioprine, mercaptopurine","pmid":29923122,"phenotype_category":"Dosage","significance":"yes","notes":"The doses of thiopurines at the time when severe leukopenia was diagnosed were 39.4 \u00b1 3.1 mg/day in TT which was significantly lower than 69.1 \u00b1 28.1 mg/day in CC (8.50E-06) and 54.6 \u00b1 19.1 mg/day in CT (p = 2.46E-02 ),","sentence":"Genotype TT is associated with decreased dose of azathioprine or mercaptopurine in people with Inflammatory Bowel Diseases as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Inflammatory Bowel Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4368615","article_title":"The CYP19 RS4646 Polymorphism IS Related to the Prognosis of Stage I\u2013II and Operable Stage III Breast Cancer","article_path":"articles/PMC4368615.md","variant_annotation_id":1444702623,"variant_haplotypes":"rs4646","gene":"CYP19A1","drugs":"anastrozole, letrozole, tamoxifen","pmid":25793413,"phenotype_category":"Efficacy","significance":"yes","notes":"Median follow up time was 96 months and the association was with disease free survival (DFS). Overall there was no difference in DFS by genotype, however when women were split into the pre-menopausal and post-menopausal group, an association was seen between the AA genotype and DFS, but in opposite directions. The AA genotype was associated with shorter DFS in the post-menopausal women and longer DFS in the pre-menopausal women when compared to the AC and CC genotypes (87 months in pre-menopausal AA women, and 48.7 months in pre-menopausal AC+CC women). Chemotherapy included Cyclophosphamide, Doxorubicin/epirubicin and Fluoracil or Doxorubicin, Cyclophosphamide with/without docetaxel, Cyclophosphamide, Epirubicin or Doxorubicin, Cyclophosphamide followed by Docetaxel or weekly Paclitaxel, CAF (Cyclophosphamide, Doxorubicin/Epirubicin and Fluoracil) followed by Docetaxel or weekly Paclitaxel treatment and others, 10 (2.5%) remained unknown.","sentence":"Genotype AA is associated with increased response to anastrozole, letrozole or tamoxifen in women with Breast Neoplasms as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121689,"variant_haplotypes":"rs737865","gene":"COMT","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to oxycodone as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449250615,"variant_haplotypes":"rs11676382","gene":"GGCX","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of warfarin as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677374,"variant_haplotypes":"rs4775936","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole and lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides of 33.2 mg/dL (SE 8.9).","sentence":"Allele C is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133757,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in improvement in pain scores between metabolizer groups.","sentence":"CYP2C19 poor metabolizer is not associated with response to morphine and nortriptyline in people with Pain as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5392306","article_title":"Pharmacogenetics of dipeptidyl peptidase 4 inhibitors in a Taiwanese population with type 2 diabetes","article_path":"articles/PMC5392306.md","variant_annotation_id":1452876660,"variant_haplotypes":"rs57803087","gene":"PRKD1","drugs":"linagliptin, saxagliptin, sitagliptin, vildagliptin","pmid":28160554,"phenotype_category":"Efficacy","significance":"yes","notes":"\"After the GWAS (stage I) and replication (stage II) results were combined, rs57803087, located within PRKD1, remained significantly associated with the DPP-4 inhibitor response (Table 4).\" Effect allele is not specified in paper.","sentence":"Allele G is associated with increased response to linagliptin, saxagliptin, sitagliptin or vildagliptin in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4525256","article_title":"Leveraging an Electronic Health Record-Linked Biorepository to Generate a Metformin Pharmacogenomics Hypothesis","article_path":"articles/PMC4525256.md","variant_annotation_id":1446903452,"variant_haplotypes":"rs12752688","gene":null,"drugs":"metformin","pmid":26306225,"phenotype_category":"Efficacy","significance":"no","notes":"EHR-linked and EHR-based phenotyping methods were used to study common variants within FMO5. Efficacy was assessed by A1c levels extracted from EHR records.","sentence":"Allele T is not associated with response to metformin in people with Diabetes Mellitus as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4846779","article_title":"Dose Optimization of Efavirenz Based on Individual CYP2B6 Polymorphisms in Chinese Patients Positive for HIV","article_path":"articles/PMC4846779.md","variant_annotation_id":1448104256,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":27299708,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Values of oral clearance were 10.2 L/h, 7.33 L/h and 2.38 L/h for GG, GT, and TT patients, respectively.","sentence":"Genotype GG is associated with increased clearance of efavirenz in people with HIV Infections as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2515139","article_title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","article_path":"articles/PMC2515139.md","variant_annotation_id":637880256,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":18535201,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4298011","article_title":"Adrenergic receptor genotype influences heart failure severity and \u03b2-blocker response in children with dilated cardiomyopathy","article_path":"articles/PMC4298011.md","variant_annotation_id":1451544780,"variant_haplotypes":"rs61767072","gene":"ADRA2C","drugs":"Beta Blocking Agents","pmid":25406899,"phenotype_category":"Efficacy","significance":"yes","notes":"Study looked at effect of 'high-risk' genotypes (i.e. genotypes of one or more of rs61767072 del, rs1801253 C or rs1042713 A alleles) on response to beta-blockers. Patients with more 'high-risk' alleles showed a greater response to beta-blockers than those with fewer 'high-risk' alleles. Note that this variant is incorrectly referred to as rs6846820 in the paper and has been mapped to the correct rsID by PharmGKB.","sentence":"Allele del is associated with increased response to Beta Blocking Agents in children with Cardiomyopathy, Dilated as compared to allele GGGGCGGGGCCG.","alleles":"del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Cardiomyopathy, Dilated","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGGGCGGGGCCG","comparison_metabolizer_types":null} -{"pmcid":"PMC5727754","article_title":"Effect of AGTR1 and BDKRB2 gene polymorphisms on atorvastatin metabolism in a Mexican population","article_path":"articles/PMC5727754.md","variant_annotation_id":1449169556,"variant_haplotypes":"rs699","gene":"AGT","drugs":"atorvastatin","pmid":29250329,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with AUC, Cmax, clearance, elimination rate constant, or half-life of atorvastatin. However, the AG genotype was associated with higher AUC ad well as lower clearance of atorvastatin vs. AA or GG genotypes.","sentence":"Genotype AG is not associated with exposure to atorvastatin in healthy individuals as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174892,"variant_haplotypes":"rs11853372","gene":"SLC28A1","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. rs11853372 is not associated with metabolism of gemcitabine.","sentence":"Genotype TT is not associated with metabolism of gemcitabine as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC6472479","article_title":"Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and Phe508del and a Residual Function Mutation","article_path":"articles/PMC6472479.md","variant_annotation_id":1449154699,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, tezacaftor","pmid":29099333,"phenotype_category":"Efficacy","significance":"yes","notes":"This trial was designed to evaluate the efficacy and safety of tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo. It is a phase 3, randomized, multicenter, double-blind, placebo-controlled, two-period, three-intervention crossover trial (NCT02392234). Patients were 12 years of age or older with cystic fibrosis (CF) and were heterozygous for the Phe508del CFTR mutation and a second allele with a CFTR mutation with residual function as assessed by in vitro studies. Each patient received two of the three regimens (tezacaftor with ivacaftor, ivacaftor monotherapy, or placebo).","sentence":"Genotype CTT/del is associated with increased response to ivacaftor and tezacaftor in people with Cystic Fibrosis.","alleles":"CTT/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4274707","article_title":"IFNL4 ss469415590 Variant Is Associated with Treatment Response in Japanese HCV Genotype 1 Infected Individuals Treated with IFN-Including Regimens","article_path":"articles/PMC4274707.md","variant_annotation_id":1444843675,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":25548683,"phenotype_category":"Efficacy","significance":"yes","notes":"in Japanese hepatitis C genotype 1 patients.","sentence":"Genotype TT/TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and telaprevir in people with Hepatitis C as compared to genotypes G/TT + GG.","alleles":"TT/TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3656883","article_title":"Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements","article_path":"articles/PMC3656883.md","variant_annotation_id":1185002375,"variant_haplotypes":"rs104894542","gene":"VKORC1","drugs":"acenocoumarol","pmid":23691226,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant is found in 1 patient of the group (all with higher doses than expected).","sentence":"Genotypes AC + CC is associated with increased dose of acenocoumarol as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726100,"variant_haplotypes":"rs11749180","gene":"PRKAA1","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs11749180 as top SNP for PRKAA1","sentence":"Allele A is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4833149","article_title":"The pharmacokinetic and pharmacodynamic interaction of clopidogrel and cilostazol in relation to CYP2C19 and CYP3A5 genotypes","article_path":"articles/PMC4833149.md","variant_annotation_id":1446906210,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"cilostazol","pmid":26426352,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"either when cilostazole is administered alone or in combination with clopidogrel. The authors significant differences in AUC (ng*hr/ml) values of cilostazole metabolites when comparing between CYP3A5 genotype groups. The differences in concentrations of cilostazole metabolite AUC between the CYP3A5 *1/*3 and CYP3A5 *3/*3 was significant when clopidogrel was administered alone or in combiation with cilostazole. Differences in the AUC (ng*hr/ml) of 4\" trans hydroxy cilostazole were only significant for within genotype group comparisons between treatment (CYP3A5 *1/*3 cilostrazole only (684.33) versus cilostrazole and clopidogrel (513.85); p=0.004); CYP3A5 *3/*3 cilostrazole only (576.38) versus cilostrazole and clopidogrel (526.17); p=0.023)","sentence":"CYP3A5 *1/*3 (assigned as intermediate metabolizer phenotype) is associated with decreased concentrations of cilostazol in healthy individuals as compared to CYP3A5 *3/*3 (assigned as poor metabolizer phenotype) .","alleles":"*1/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC2726911","article_title":"Effect of casopitant, a novel NK-1 antagonist, on the pharmacokinetics of dolasetron and granisetron","article_path":"articles/PMC2726911.md","variant_annotation_id":1447275651,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"casopitant, dolasetron","pmid":19205754,"phenotype_category":"Metabolism/PK","significance":"no","notes":"While CYP2D6 PMs had slightly higher AUCs than CYP2D6 EMs when dolasetron was administered alone, there was no clinically relevant difference when casopitant was co-administered.; \"The current study showed that coadministration of dolasetron with a 3-day regimen of casopitant resulted in no clinically relevant change in the exposure of hydrodolasetron. The largest observed changes were a 14% increase in hydrodolasetron AUC on day 1 and 18% and 22% increases in hydrodolasetron Cmax on days 1 and 3, respectively. These changes are not considered clinically relevant, were not associated with any increase in adverse events, and were within the same range of within-subject variability for dolasetron exposure.\"; Metabolizer status defined as: \"CYP2D6 PMs (*3, *4, *5, *6, or *7 homozygotes) or CYP2D6 EMs (absence or heterozygotes for *3, *4, *5, *6, or *7 alleles and devoid of CYP2D6 gene duplication) by genotypic analysis.\"","sentence":"CYP2D6 poor metabolizer is not associated with increased exposure to casopitant and dolasetron in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":"and","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5807179","article_title":"Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences","article_path":"articles/PMC5807179.md","variant_annotation_id":1448996508,"variant_haplotypes":"rs111645190","gene":null,"drugs":"nicotine","pmid":28921760,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Nicotine metabolism was assessed by measuring participants' nicotine metabolite ratio.","sentence":"Allele A is not associated with metabolism of nicotine as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5563830","article_title":"Association of ABCB1 Gene Polymorphisms with Efficacy and Adverse Reaction to Risperidone or Paliperidone in Han Chinese Schizophrenic Patients","article_path":"articles/PMC5563830.md","variant_annotation_id":1448604016,"variant_haplotypes":"rs2235048","gene":"ABCB1","drugs":"risperidone","pmid":27456824,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles given as reverse strand C and T. Efficacy measured with reduction in PANSS total score reduced rate.","sentence":"Genotypes AG + GG are associated with increased response to risperidone in people with Schizophrenia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679401,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"omeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *1/*2 or *1/*3 genotype. This was a meta-analysis and included 6 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.levofloxacin.","sentence":"CYP2C19 *1/*1 is associated with decreased response to omeprazole in people with Helicobacter Infections as compared to CYP2C19 *1/*2 + *1/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3959225","article_title":"Pharmacogenomics of insulin-like growth factor-I generation during GH treatment in children with GH deficiency or Turner syndrome","article_path":"articles/PMC3959225.md","variant_annotation_id":1449164471,"variant_haplotypes":"rs2270777","gene":"CDK4","drugs":"somatropin recombinant","pmid":23567489,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to growth hormone treatment assessed by 1-month insulin-like growth factor-I (IGF-I) generation. Multiple test correction was done for 1171 SNPs. Corrected p values was given.","sentence":"Genotype TT is associated with increased response to somatropin recombinant in children with growth hormone deficiency as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Growth hormone deficiency","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930642,"variant_haplotypes":"rs692780","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The G allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele C is not associated with exposure to nicotine in men as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756016,"variant_haplotypes":"rs7305534","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9481373","article_title":"Tacrolimus Concentration Is Effectively Predicted Using Combined Clinical and Genetic Factors in the Perioperative Period of Kidney Transplantation and Associated with Acute Rejection","article_path":"articles/PMC9481373.md","variant_annotation_id":1451893780,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":36118414,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"alleles complemented to plus chromosomal strand.","sentence":"Genotypes AG + GG is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811823,"variant_haplotypes":"rs642489","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and any individual item or total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is not associated with response to ethanol as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11269678","article_title":"HLA-DQA1*05 correlates with increased risk of anti-drug antibody development and reduced response to infliximab in Chinese patients with Crohn\u2019s disease","article_path":"articles/PMC11269678.md","variant_annotation_id":1452542845,"variant_haplotypes":"rs2097432","gene":null,"drugs":"infliximab","pmid":39055374,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Furthermore, HLA-DQA1*05 G carriage was significantly associated with an elevated risk of loss response to IFX treatment (adjusted HR\u2009=\u20092.55, 95% CI 1.78\u20133.68, P\u2009<\u20090.001; Figure 3B and Supplementary Table 2).\" Authors describe locus as HLADQ A1*05A>G (rs2097432). Alleles complemented","sentence":"Genotypes CC + CT is associated with decreased response to infliximab in people with Crohn Disease as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Crohn Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6054772","article_title":"Efficacy and Safety Profile of Z-215 (Azeloprazole Sodium), a Proton Pump Inhibitor, Compared with Rabeprazole Sodium in Patients with Reflux Esophagitis: A Phase II, Multicenter, Randomized, Double-Blind, Comparative Study","article_path":"articles/PMC6054772.md","variant_annotation_id":1451343500,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"rabeprazole","pmid":30038671,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to patients with the *1/*2 or *1/*3 genotype, or those with the *2/*2, *2/*3 or *3/*3 genotype. To assess the effects of CYP2C19 genotype, the endoscopic healing rate was assessed by the investigator at Week 8 according to CYP2C19 genotype (homozygous EM and heterozygous EM and PM). The endoscopic healing rate was not dependent on CYP2C19 genotype in any group (10 mg Z-215: 125 patients, 20 mg Z-215: 126 patients, 40 mg Z-215: 126 patients, and 10 mg rabeprazole: 126 patients). Please note that the authors did not specify whether every one of these genotypes was present in the population, only that they genotyped for them.","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in people with Gastroesophageal Reflux as compared to CYP2C19 *1/*1.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Gastroesophageal Reflux","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6092108","article_title":"SLCO1B1 genetic variation and hormone therapy in menopausal women","article_path":"articles/PMC6092108.md","variant_annotation_id":1449311435,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"conjugated estrogens","pmid":29738412,"phenotype_category":"Efficacy","significance":"yes","notes":"Women with the CT genotype had a significantly increased reduction in night sweats following hormonal therapy than women with the TT genotype.","sentence":"Genotype CT is associated with increased response to conjugated estrogens in women with Menopause as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Menopause","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3248259","article_title":"Pharmacokinetics and pharmacodynamics following maintenance doses of prasugrel and clopidogrel in Chinese carriers of CYP2C19 variants","article_path":"articles/PMC3248259.md","variant_annotation_id":1450664694,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":21689142,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"PMs and IMs had lower con-centrations of active metabolite than did *1/*1 and PMs had lower concentrations than did IMs. CYP2C19 *2/*3 is associated with increased area under the plasma concentration-time curve and Cmax as compared to CYP2C19 *1/*1.; Note: P values were NOT provided in the study. Authors chose to report of confidence interval cut-off of 90%, (not classical cut-off of 95%). Confidence interval of 90% does not cross 1 so that suggesting significance.","sentence":"CYP2C19 *2/*2 + *2/*3 is associated with decreased metabolism of clopidogrel in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479730,"variant_haplotypes":"rs2069526","gene":"CYP1A2","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3513646","article_title":"Lower Calcineurin Inhibitor Doses in Older Compared to Younger Kidney Transplant Recipients Yield Similar Troughs","article_path":"articles/PMC3513646.md","variant_annotation_id":1450376200,"variant_haplotypes":"CYP3A5*1","gene":"CYP3A5","drugs":"tacrolimus","pmid":22947444,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"During first 6 months post-transplant.","sentence":"CYP3A5 *1 is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002388,"variant_haplotypes":"rs2291078","gene":"UMPS","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. 36 SNPs were initially significantly associated with drug response but only 3 remained significant in the validation cohort (before Bonferroni correction): rs2291078 A, rs3772809 G, rs3772810 G. All three SNPs were in perfect LD, and were initially associated with the non-responder phenotype, but the association did not remain significant after Bonferroni correction.","sentence":"Allele A is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4631184","article_title":"In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles","article_path":"articles/PMC4631184.md","variant_annotation_id":1444711216,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"endoxifen","pmid":25907378,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The patients of the cohort (83% White, 15% Black) were genotype with AmpliChip CYP450 test. The variations used to define the star alleles are not reported. The diplotypes of the patients are not reported. The alleles found in the cohort are not explicit reported but graphic 3 shows *1, *2, *35, *9, *10, *17, *29, and *41. The study included UMs and PM but no CYP2D6 star allele is reported for those phenotypes. *1, *2, *35 are grouped as active alleles and any combination of these defines the extensive metabolizer. *9, *10, *17, *29, and *41 are grouped as reduced function alleles. The article subgroups the IMs into EM/IM, EM/PM, IM/IM, IM/PM.","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of endoxifen in women Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4943245","article_title":"Individualized Angiotensin\u2010Converting Enzyme (ACE)\u2010Inhibitor Therapy in Stable Coronary Artery Disease Based on Clinical and Pharmacogenetic Determinants: The PERindopril GENEtic (PERGENE) Risk Model","article_path":"articles/PMC4943245.md","variant_annotation_id":1447964483,"variant_haplotypes":"rs12050217","gene":"BDKRB1","drugs":"perindopril","pmid":27021566,"phenotype_category":"Efficacy","significance":"yes","notes":"Three SNPS are combined for a risk score ranging between 0 and 6: rs275651, rs5182, and rs12050217. Patients with risk scores of 0 and 1 and treated with perindopril had absolute risk reductions of 7.50% (95% CI: 3.69-11.73) and 4.30% (95% CI: 2.00-6.53), respectively. Nonsignificant estimated absolute risk increase of 1.32% was observed in patients with a PGXscore >=3. Lower risk score had better response to treatment by primary endpoint of cardiovascular mortality, nonfatal MI, and resuscitated cardiac arrest. Part of PERGENE trial for cardiovascular outcomes.","sentence":"Genotypes AA + AG is associated with decreased response to perindopril in people with Coronary Artery Disease as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4208722","article_title":"GRIK4 polymorphism and its association with antidepressant response in depressed patients: a meta-analysis","article_path":"articles/PMC4208722.md","variant_annotation_id":1184998246,"variant_haplotypes":"rs1954787","gene":"GRIK4","drugs":"antidepressants","pmid":25303296,"phenotype_category":"Efficacy","significance":"yes","notes":"Meta-analysis combining 5 studies.","sentence":"Allele C is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4181635","article_title":"Clinical significance of UGT1A1 gene polymorphisms on irinotecan-based regimens as the treatment in metastatic colorectal cancer","article_path":"articles/PMC4181635.md","variant_annotation_id":1451214031,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"FOLFIRI, irinotecan","pmid":25285015,"phenotype_category":"Efficacy","significance":"no","notes":"Response rates were complete and partial response (CR + PR), or complete and partial response and stable disease (CR + PR + SD). No significant differences between any of the genotypes ((TA)6/(TA)6, (TA)6/(TA)7, (TA)7/(TA)7) were seen for either type of response rate.","sentence":"UGT1A1 *28 is not associated with increased response to FOLFIRI or irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453075960,"variant_haplotypes":"rs163184","gene":"KCNQ1","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"KCNQ1 gene polymorphisms also significantly affected treatment outcomes. Patients with the rs163184 GG allele in the study group had a median HbA1c improvement of 0.81 (IQR, 0.62\u20130.92) compared with 1.16 (IQR, 0.91\u20131.32) in the control group (P\u2005<\u2005.001), suggesting lower responsiveness to sitagliptin and better response to gliclazide.\"","sentence":"Genotype GG is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183631253,"variant_haplotypes":"rs16960228","gene":"PRKCA","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"yes","notes":"Observations: 4.46 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA, 3.26 mm Hg increased reduction of diastolic blood pressure per A allele in NORDIL, and 4.16 mm Hg increased reduction of diastolic blood pressure per A allele in PEAR + GERA + NORDIL.The association did not reach genome-wide significance when only PEAR + GERA were analyzed, but this SNP was selected for replication in NORDIL and here the association reached significance. It did not reach genome-wide significance in the meta-analysis of PEAR + GERA + NORDIL. It was then tested for replication in the GENRES and Milan cohorts, reaching significance in GENRES but not in the Milan cohort.","sentence":"Allele A is associated with increased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4959996","article_title":"ABCC3 Genetic Variants are Associated with Postoperative Morphine-induced Respiratory Depression and Morphine Pharmacokinetics in Children","article_path":"articles/PMC4959996.md","variant_annotation_id":1450342061,"variant_haplotypes":"rs4793665","gene":"ABCC3","drugs":"morphine-3-glucuronide, morphine-6-glucuronide","pmid":26810133,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with increased concentrations of morphine-3-glucuronide and morphine-6-glucuronide in children with Scoliosis or tonsillectomy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Scoliosis, Disease:tonsillectomy","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2757655","article_title":"Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans","article_path":"articles/PMC2757655.md","variant_annotation_id":1447519652,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":18466099,"phenotype_category":"Dosage","significance":"yes","notes":"in European Americans.","sentence":"CYP2C9 *2 + *3 + *5 + *6 + *11 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2 + *3 + *5 + *6 + *11","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4764723","article_title":"The Impacts of SLC22A1 rs594709 and SLC47A1 rs2289669 Polymorphisms on Metformin Therapeutic Efficacy in Chinese Type 2 Diabetes Patients","article_path":"articles/PMC4764723.md","variant_annotation_id":1447980961,"variant_haplotypes":"rs2289669","gene":"SLC47A1","drugs":"metformin","pmid":26977146,"phenotype_category":"Efficacy","significance":"yes","notes":"Looked at changes in the following as measures of metformin response between AA/GA (n=50) and GG genotype (n=3): fasting blood glucose (p=0.112), postprandial blood glucose (p=0.171), fasting insulting (p=0.015), postprandial insulin (p=0.259), glycosylated hemoglobin (p=0.227), triglycerides (p=p=0.434), total cholesterol (p=0.224), low-density lipoprotein (p=0.451), high-density lipoprotein (p=0.399), homeostasis model assessment of insulin resistance (p=0.081), homeostasis model assessment of insulin sensitivity (p=0.001), homeostasis model assessment of B cell function (p=0.493), and quantitative insulin sensitivity check index (p=0.002). Also, found an interaction between this SNP and SLC47A1 rs2289669, with patients with rs594709 AA genotypes and rs2289669 AA genotypes showing higher decrease in FBG (p=0.015), PINS (p=0.041), and HOMA-IR (p-0.014) than patients with rs2289669 GA or GG genotypes. Patients with rs594709 G allele carriers and also rs2289669 AA genotype showed greater decrease in TChol (p=0.013) than GA or GG genotypes.","sentence":"Genotype GG is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5346037","article_title":"Genome-Wide Analysis of Clopidogrel Active Metabolite Levels Identifies Novel Variants that Influence Antiplatelet Response","article_path":"articles/PMC5346037.md","variant_annotation_id":1448602481,"variant_haplotypes":"rs9732195","gene":null,"drugs":"clopidogrel thiol metabolite H4","pmid":28207573,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In this GWAS, locus on chromosome 10 near the CYP2C9-CYP2C18-CYP2C19 gene cluster was significantly associated with active metabolite concentration; (rs137891020, P =9.5 \u00d7 10\u201315,according to dbSNP: rs137891020 has merged into rs9732195). This variant is non-significant after adjusting for CYP2C19*2 SNV.","sentence":"Allele T is associated with concentrations of clopidogrel thiol metabolite H4 in healthy individuals as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4615595","article_title":"Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response","article_path":"articles/PMC4615595.md","variant_annotation_id":982044478,"variant_haplotypes":"rs3093059","gene":"CRP","drugs":"fenofibrate","pmid":18285551,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change of C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, was seen between genotypes. In strong linkage disequilibrium with rs3091244 (r2 = 0.935, p < 0.001) and in weak linkage disequilibrium with rs1417938 and rs1205 (r2 = 0.17, p < 0.05).","sentence":"Genotype AA is not associated with response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metabolic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3698861","article_title":"Association of nicotine metabolite ratio and CYP2A6 genotype with smoking cessation treatment in African-American light smokers","article_path":"articles/PMC3698861.md","variant_annotation_id":1451665280,"variant_haplotypes":"CYP2A6*1, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":19279561,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar.","sentence":"CYP2A6 *1/*46 + *46/*46 are associated with increased metabolism of nicotine as compared to CYP2A6 *1/*1.","alleles":"*1/*46 + *46/*46","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359274,"variant_haplotypes":"rs1611114","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375534,"variant_haplotypes":"rs45499402","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment. This SNP is in perfect LD with rs2231142.","sentence":"Allele C is associated with decreased response to allopurinol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679483,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"esomeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to the *1/*2 or *1/*3 genotype, or the *2/*2, *2/*3 or *3/*3 genotype. No significant differences in eradication rate of Helicobacter pylori (H. pylori) were seen between any of the genotype groups.This was a meta-analysis and included 4 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin or amoxicillin and levofloxacin as part of triple therapy.","sentence":"CYP2C19 *1/*1 is not associated with response to esomeprazole in people with Helicobacter Infections.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5509475","article_title":"ABCB1 Genotype is Associated with Fentanyl Requirements in Critically Ill Children","article_path":"articles/PMC5509475.md","variant_annotation_id":1450826590,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"fentanyl","pmid":28388599,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in fentanyl infusion dose between genotype groups.","sentence":"Allele G is not associated with dose of fentanyl in children as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5883590","article_title":"Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome","article_path":"articles/PMC5883590.md","variant_annotation_id":1449748460,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"tacrolimus","pmid":29615122,"phenotype_category":"Efficacy","significance":"no","notes":"This variant did not affect the clinical efficacy of tacrolimus. Effective response included patients with complete or partial remission, and ineffective response included patients with no remission or recurrence. The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Allele T is not associated with response to tacrolimus in people with Nephrotic Syndrome as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nephrotic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631778,"variant_haplotypes":"rs12943590","gene":"SLC47A2","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele A is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863316,"variant_haplotypes":"rs17602729","gene":"AMPD1","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11652804","article_title":"Sex\u2010Dependent Effects of CYP2D6 on the Pharmacokinetics of Berberine in Humans","article_path":"articles/PMC11652804.md","variant_annotation_id":1452699060,"variant_haplotypes":"SLC22A1 deficiency","gene":"SLC22A1","drugs":"berberine","pmid":39488825,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"No significant differences were observed in berberine plasma con-centrations or AUC 0\u201348h between poor OCT1 transporters, poorCYP2D6 metabolizers, and the reference group (Figure 4a,b,Table 1).\" \"Poor OCT1 transporters were defined as homozygous or compound het-erozygous carriers of OCT1 alleles *3, *4, *5, or *6. \" \"OCT1 alleles *1 (reference allele), *2 (Met420del),*3 (Arg61Cys), *4 (Gly401Ser), *5 (Gly465Arg, Met420del), *6 (Cys88Arg, Met420del)\"","sentence":"SLC22A1 deficiency is not associated with decreased concentrations of berberine in healthy individuals as compared to SLC22A1 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113819,"variant_haplotypes":"rs524731","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4613195","article_title":"Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation","article_path":"articles/PMC4613195.md","variant_annotation_id":1448099963,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":26307985,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles given as the reverse strand C and T. Concentrations measured as trough blood drug concentrations. Differences in concentrations between CT and CC patients were seen 6 months after transplant.","sentence":"Genotypes AA + AG are associated with increased concentrations of tacrolimus in people with lung transplantation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5411458","article_title":"CYP2D6 Phenotyping Using Urine, Plasma, and Saliva Metabolic Ratios to Assess the Impact of CYP2D6\u221710 on Interindividual Variation in a Chinese Population","article_path":"articles/PMC5411458.md","variant_annotation_id":1448617711,"variant_haplotypes":"CYP2D6*1, CYP2D6*5, CYP2D6*10","gene":"CYP2D6","drugs":"dextromethorphan","pmid":28512430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. NM n= 190; *5/*10 n=35. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001).","sentence":"CYP2D6 *5/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*1 + *1/*10 + *10/*10.","alleles":"*5/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*10 + *10/*10","comparison_metabolizer_types":null} -{"pmcid":"PMC4667947","article_title":"Methadone pharmacogenetics: CYP2B6 polymorphisms determine plasma concentrations, clearance and metabolism","article_path":"articles/PMC4667947.md","variant_annotation_id":1447944325,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"methadone","pmid":26389554,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"PK measures were AUC, clearance, peak concentration, exposure.","sentence":"CYP2B6 *1/*6 + *6/*6 is associated with decreased clearance of methadone in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*1/*6 + *6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2773991","article_title":"Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770","article_path":"articles/PMC2773991.md","variant_annotation_id":981755699,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":19846789,"phenotype_category":"Efficacy","significance":"yes","notes":"In vitro assays that show ivacaftor potentiates CFTR with the G551D mutation (rs75527207 allele A) - see details described in study parameters.","sentence":"Allele A is associated with increased response to ivacaftor.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4965653","article_title":"Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases","article_path":"articles/PMC4965653.md","variant_annotation_id":1450376730,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":27482244,"phenotype_category":"Efficacy","significance":"not stated","notes":"Using multiple logistic regression analysis to examine the relationship between various clinical parameters and treatment response showed that ADRA2A GG genotype (OR=5.6), the presence of a psychiatric comorbidity (OR=5.6) and low SES (OR=2.3) were associated with reduced response to methylphenidate treatment.","sentence":"Genotype GG is associated with decreased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171089,"variant_haplotypes":"rs2279344","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with concentrations of (S)-EDDP as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002508,"variant_haplotypes":"rs3802201","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane. Did not reach statistical significance for GWAS (P<5 x 10^-8).","sentence":"Allele C is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3330749","article_title":"Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study","article_path":"articles/PMC3330749.md","variant_annotation_id":1447519944,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":19752777,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4169706","article_title":"Genome-wide association analysis of anti-TNF drug response in rheumatoid arthritis patients","article_path":"articles/PMC4169706.md","variant_annotation_id":981483823,"variant_haplotypes":"rs1813443","gene":"CNTN5","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":23233654,"phenotype_category":"Efficacy","significance":"no","notes":"This is one of three SNPs that showed directional consistency of association in 4 cohorts studied, along with improved p value in a 3 stage meta-analysis compared to the first GWAS stage. Since this is a CG SNP, the associated allele may be incorrect; it was reported as C and the SNP is in +-strand gene. p did not reach genome-wide significance.","sentence":"Allele C is associated with response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5558541","article_title":"Rooted in risk: genetic predisposition for low-density lipoprotein cholesterol level associates with diminished low-density lipoprotein cholesterol response to statin treatment","article_path":"articles/PMC5558541.md","variant_annotation_id":1448263716,"variant_haplotypes":"rs2072183","gene":"NPC1L1","drugs":"hmg coa reductase inhibitors","pmid":27648687,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by lesser reductions in LDL-C. These individuals were also more likely to start out with higher LDL-C before treatment. NPC1L1 is on the minus strand therefore alleles were complemented and shown here on plus chromosomal strand. Paper shows C as effect allele and also minor allele in European-ancestry individuals.","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors in people with Cardiovascular Diseases and Hypercholesterolemia as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease, Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11524821","article_title":"Evaluation of the role of metabolizing enzymes and transporter variants in ezetimibe pharmacokinetics","article_path":"articles/PMC11524821.md","variant_annotation_id":1452829247,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"ezetimibe","pmid":39484171,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented. \"A tendency towards higher Cmax/DW in ABCB1 rs2032582 G/G; + A/A+ G/A subjects compared to ABCB1 T/T (p univariate (puv) =; 0.056, p multivariate (pmv) = 0.049, \u03b2 = 0.243, R2 = 0.067) (Table 4)\" This is a trialleleic and difficult to represent in the structured sentence. Table 4 shows allele frequencies for \"TT n=17, T/G + T/A 28, G/G + A/A+ G/A 50\"","sentence":"Genotype AA is associated with decreased dose-adjusted trough concentrations of ezetimibe in healthy individuals as compared to genotypes CC + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340000,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, CYP2C9*3 allele is associated with 12.5mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"CYP2C9 *1/*3 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511048,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of CYP3A4*1B TT, AC and CC did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491185,"variant_haplotypes":"rs4580760","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype CC is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC5469860","article_title":"Association of Polymorphisms in Pharmacogenetic Candidate Genes with Propofol Susceptibility","article_path":"articles/PMC5469860.md","variant_annotation_id":1448639517,"variant_haplotypes":"rs6746030","gene":"SCN9A","drugs":"propofol","pmid":28611364,"phenotype_category":"Other","significance":"yes","notes":"The AA and AG genotypes were associated with lower BIS values, indicating increased susceptibility to propofol compared to the GG genotypes (51.13\u00b115.37 vs. 61.30\u00b110.39). Please note: the authors examined 58 SNPs but did not do multiple testing corrections.","sentence":"Genotypes AA + AG are associated with increased response to propofol as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC8108700","article_title":"The OPRD1 rs678849 variant influences outcome of disulfiram treatment for cocaine dependency in methadone-maintained patients","article_path":"articles/PMC8108700.md","variant_annotation_id":1451635420,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"disulfiram","pmid":33953123,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had a significantly reduced number of cocaine-positive urine samples when treated with disulfiram.","sentence":"Genotype CC is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6855320","article_title":"CYP2C19 and STAT6 Variants Influence the Outcome of Proton Pump Inhibitor Therapy in Pediatric Eosinophilic Esophagitis","article_path":"articles/PMC6855320.md","variant_annotation_id":1451273860,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"esomeprazole","pmid":31490856,"phenotype_category":"Efficacy","significance":"no","notes":"carriage of CYP2C19\udbff\udc0017 GOF was not associated with either PPI-REE or complete PPI-REE outcomes in the non-pH cohort (PPI-REE OR [95% CI] = 1.38 [0.34,5.61], P = 0.65; complete PPI-REE OR =1.54 (0.37-6.46) p=0.56","sentence":"CYP2C19 *17 is not associated with response to esomeprazole in children with eosinophilic esophagitis as compared to CYP2C19 *1/*1.","alleles":"*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:eosinophilic esophagitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5727754","article_title":"Effect of AGTR1 and BDKRB2 gene polymorphisms on atorvastatin metabolism in a Mexican population","article_path":"articles/PMC5727754.md","variant_annotation_id":1449169568,"variant_haplotypes":"rs5186","gene":"AGTR1","drugs":"atorvastatin","pmid":29250329,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC (0-time t) and AUC (0-infinity) values were significantly higher in the AC genotype (186.44\u00b192.45 and 204.55\u00b194.76 ng/ml/h, respectively) vs the CC genotype (95.57\u00b143.10 and 109.28\u00b140.84 ng/ml/h) (P<0.05 each) as well as when compared to AA + CC genotypes combined (159.28\u00b179.71 ng/ml/h) (P<0.05). Clearance was significantly lower in the AC genotype (473.67\u00b1220.44 l/h) vs CC (810.19\u00b1275.81 l/h) or vs. AA+CC (614.68\u00b1277.11 l/h); (P<0.05). Genotype was not associated with half-life, Cmax, or elimination rate constant of atorvastatin.","sentence":"Genotype AC is associated with increased exposure to atorvastatin in healthy individuals as compared to genotypes AA + CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3506814","article_title":"Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population","article_path":"articles/PMC3506814.md","variant_annotation_id":1183699670,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"bevacizumab","pmid":23204795,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GT and TT genotype had greater improvements in visual acuity (using a Snellen eye exam chart then converted to a logarithm of the minimal angle of resolution value) between baseline and 6 months of treatment, as compared to those with the GG genotype. Patients with the TT genotype had the greatest visual acuity improvement, followed by the GT and then the GG genotype. No significant differences were seen when considering improvement over 12 months of treatment.","sentence":"Genotypes GT + TT are associated with increased response to bevacizumab in people with Macular Degeneration as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930657,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The A allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele A is not associated with exposure to nicotine in men as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6493375","article_title":"ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients","article_path":"articles/PMC6493375.md","variant_annotation_id":827921768,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"antiepileptics","pmid":22630058,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with increased resistance to antiepileptics in people with Epilepsy as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7993015","article_title":"Genetic Variant in CHRNA5 and Response to Varenicline and Combination Nicotine Replacement in a randomized placebo-controlled trial","article_path":"articles/PMC7993015.md","variant_annotation_id":1451347680,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"nicotine","pmid":32602170,"phenotype_category":"Efficacy","significance":"yes","notes":"compared to placebo. In African American smokers, combination nicotine replacement therapy (patch and lozenge) was more effective in smokers with rs16969968 GG genotype than was placebo. There was no significant genotype-by-treatment interaction in smokers of European ancestry.","sentence":"Genotype GG is associated with increased response to nicotine in people with Tobacco Use Disorder.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271273,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between genotypes. Subsequent pairwise analysis resulted in a nominally significant association for the TT genotype compared to the CT genotype in the methadone group and the total cohort, but not in the buprenorphine group.","sentence":"Genotype TT is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557975,"variant_haplotypes":"rs699517","gene":"TYMS","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677307,"variant_haplotypes":"rs10046","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole alone or with lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides of 36.4 mg/dL (SE 7.8).","sentence":"Allele A is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705057,"variant_haplotypes":"rs4803217","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184513472,"variant_haplotypes":"rs2725252","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"As part of a haplotype with rs12505410: those with the G-C haplotype (rs12505410-rs2725252) had a significantly higher cumulative incidence major molecular response (CI-MMR) as compared to those with any other haplotype (i.e. G-A, T-C, T-A). This study was done in an exploratory cohort (n=105) and a validation cohort (n=239); within the validation cohort, patients were either taking a 400mg/day dose of imatinib (n=132) or a 600mg/day dose (n=107). Results were NOT significant for those taking a 600mg/day dose. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4931969","article_title":"Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment","article_path":"articles/PMC4931969.md","variant_annotation_id":1447680618,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"corticosteroids, selective beta-2-adrenoreceptor agonists","pmid":26774659,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to corticosteroids and selective beta-2-adrenoreceptor agonists in children with Asthma as compared to genotype GG.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10747255","article_title":"CYP3A5*3 and CYP3A4*22 Cluster Polymorphism Effects on LCP-Tac Tacrolimus Exposure: Population Pharmacokinetic Approach","article_path":"articles/PMC10747255.md","variant_annotation_id":1452348200,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":38140040,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\" CYP3A4*22 carriers vs. CYP3A4*22 non-carriers C0 normalized by dose showed significant differences when compared (p < 0.01).\"","sentence":"CYP3A4 *1/*22 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2048549","article_title":"Atomoxetine pharmacokinetics in healthy Chinese subjects and effect of the CYP2D6*10 allele","article_path":"articles/PMC2048549.md","variant_annotation_id":1447813900,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"atomoxetine","pmid":17610534,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Mean clearance was about 50% lower in *10/*10 compared to *1/*10 and *1/*1. Genotyped using AmpliChip for *2, *3, *4, *5, *6, *7, *8, *9,*10, *11, *14A, *14B, *15, *17, *19, *20, *25, *26, *29, *30, *31, *35, *36, *40 and *41. If subjects had two nonfunctional alleles in any combination of *3, *4, *5, *6, *7, *8, *11, *14A, *15, *19, *20 and *40 alleles, a PM genotype was assigned; otherwise, an EM genotype was assigned. Eight subjects identified as homozygous CYP2D6*10, 13 subjects as heterozygous CYP2D6*10 and three as homozygous CYP2D6*1. Each subject received atomoxetine, 40 mg once daily (qd) or placebo for 3 days (days 1, 2 and 3), followed by atomoxetine or placebo, 80 mg qd for 7 days (days 4\u201310).","sentence":"CYP2D6 *10/*10 is associated with decreased clearance of atomoxetine in healthy individuals as compared to CYP2D6 *1/*1 + *1/*10.","alleles":"*10/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*10","comparison_metabolizer_types":null} -{"pmcid":"PMC3988537","article_title":"Influence of RGS2 on Sertraline Treatment for Social Anxiety Disorder","article_path":"articles/PMC3988537.md","variant_annotation_id":1452043346,"variant_haplotypes":"rs3742278","gene":"HTR2A","drugs":"sertraline","pmid":24154666,"phenotype_category":"Efficacy","significance":"no","notes":"rs3742278 was not associated with significant differences in change in LSAS score in patients receiving sertraline.","sentence":"Allele G is not associated with response to sertraline in people with Anxiety Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Anxiety Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3734608","article_title":"Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with a G551D Mutation","article_path":"articles/PMC3734608.md","variant_annotation_id":982009991,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":23590265,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients aged 6-11 at time of screening who had at least one allele with the G551D mutation (allele A at position rs75527207) were recruited for this trial. Ivacaftor is only indicated in CF patients with this mutation. Significant improvements in lung function were seen in the ivacaftor treatment group compared to placebo.","sentence":"Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713641,"variant_haplotypes":"rs2229571","gene":"BARD1","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"no","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival. As the paper gives the G allele as the reference allele for this SNP, it is assumed that the alleles are presented as being on the positive strand.","sentence":"Allele C is not associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451115963,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lopinavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and trough concentrations of lopinavir in black or Hispanic patients. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with trough concentration of lopinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2556451","article_title":"ARG1 Is a Novel Bronchodilator Response Gene: Screening and Replication in Four Asthma Cohorts","article_path":"articles/PMC2556451.md","variant_annotation_id":769146107,"variant_haplotypes":"rs2781659","gene":"ARG1","drugs":"selective beta-2-adrenoreceptor agonists","pmid":18617639,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with increased response to selective beta-2-adrenoreceptor agonists in people with Asthma as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449192273,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage, Other","significance":"yes","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450985140,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"ritonavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"overall ritonavir CL/F was \u223c1.9-fold faster in subjects with zero versus two CGC haplotype\"\"and was 1.47-fold faster in subjects with zero versus one CGC copy\". In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 8-14 (atazanavir plus ritonavir).","sentence":"Genotype AA is associated with increased clearance of ritonavir in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902864,"variant_haplotypes":"rs10739150","gene":null,"drugs":"atenolol","pmid":26425837,"phenotype_category":"Efficacy","significance":"yes","notes":"in black patients. Black participants with rs10739150 GG, TG, and TT genotypes had a BP response of -8.7/-7.2,-4.6/-4.8, and 1.4/-1.5 mmHg, respectively, after atenolol monotherapy.","sentence":"Genotypes GG + GT are associated with increased response to atenolol in people with Hypertension as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6927671","article_title":"Common polymorphisms of CYP2B6 influence stereoselective bupropion disposition","article_path":"articles/PMC6927671.md","variant_annotation_id":1449564044,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"bupropion","pmid":29756345,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There's no difference in plasma hydroxybupropion/bupropion AUC ratios, or urine R,R- or S,S hydroxybupropion formation clearances in carriers of POR*28 (A503V 1508C>T (rs1057868)) as compared to *1/*1.","sentence":"Genotypes CT + TT are not associated with metabolism of bupropion in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3478502","article_title":"Combinational effect of intestinal and hepatic CYP3A5 genotypes on tacrolimus pharmacokinetics in recipients of living donor liver transplantation","article_path":"articles/PMC3478502.md","variant_annotation_id":1184514690,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":22992768,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"After 4 months post-transplantation, C/D ratios of donor CYP3A5 expresser were lower than those of nonexpresser regardless of recipients' genotype. Given the same donor genotype, C/D ratios of recipient CYP3A5 expresser were lower than those of nonexpresser. C/D is the ratio of blood concentration/dose.","sentence":"Genotypes CT + TT are associated with increased dose of tacrolimus in people with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3895354","article_title":"Population pharmacokinetic and pharmacogenetic analysis of tacrolimus in paediatric liver transplant patients","article_path":"articles/PMC3895354.md","variant_annotation_id":1184998546,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23738951,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Population pharmacokinetic modeling showed time post transplantation and CYP3A5*1 as influential covariates on tacrolimus apparent clearance. Apparent clearance of tacrolimus increased 1.53 times in an individual with the *1/*1 or *1/*3 genotype as compared to those with the *3/*3 genotype.","sentence":"Genotypes CT + TT is associated with increased clearance of tacrolimus in children with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2762391","article_title":"Germline genomic variations associated with childhood acute lymphoblastic leukemia","article_path":"articles/PMC2762391.md","variant_annotation_id":981478035,"variant_haplotypes":"rs10994982","gene":"ARID5B","drugs":"methotrexate","pmid":19684603,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A was associated with greater methotrexate polyglutamate accumulation in lymphoblasts from patients with B-hyperdiploid ALL.","sentence":"Allele A is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822114,"variant_haplotypes":"rs510769","gene":"OPRM1","drugs":"ethanol","pmid":26042510,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and alcohol consumption.","sentence":"Allele T is not associated with dose of ethanol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8359222","article_title":"Avoiding Tacrolimus Underexposure and Overexposure with a Dosing Algorithm for Renal Transplant Recipients: A Single Arm Prospective Intervention Trial","article_path":"articles/PMC8359222.md","variant_annotation_id":1451642920,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":33452682,"phenotype_category":"Dosage","significance":"not stated","notes":"see Rx annotation for algorithm.","sentence":"CYP3A4 *22 is associated with decreased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4345081","article_title":"Polymorphisms of GLP-1 Receptor Gene and Response to GLP-1 Analogue in Patients with Poorly Controlled Type 2 Diabetes","article_path":"articles/PMC4345081.md","variant_annotation_id":1452878280,"variant_haplotypes":"rs761386","gene":"GLP1R","drugs":"exenatide","pmid":25785276,"phenotype_category":"PD","significance":"no","notes":"\"The effects of GLP1R genotypes on glucose, insulin, and C-peptide concentrations during the 75\u2009g OGTT after GLP-1 analogue treatment are shown in Figure 3.\" Figure 3 shows CC with increasing insulin while CT/TT has lower increases. \"Quantitative trait loci analysis of GLP1R gene variation with clinical response of GLP1 analogue showed the missense rs3765467 and rs761386 significantly associated with changes in the standard deviation of plasma glucose (SDPG(baseline) - SDPG(treatment with GLP-1 analogue)) (P = 0.041 and 0.019, resp.). The reported P values became insignificant after multiple testing adjustments.\"","sentence":"Genotypes CT + TT is associated with increased response to exenatide in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930694,"variant_haplotypes":"rs3827020","gene":"CHRNA4","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele C is not associated with exposure to nicotine in men as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705477,"variant_haplotypes":"rs4803219","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotype CT is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356721,"variant_haplotypes":"rs1800587","gene":"IL1A","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4892230","article_title":"CYP2B6*6 and CYP2B6*18 Predict Long-Term Efavirenz Exposure Measured in Hair Samples in HIV-Positive South African Women","article_path":"articles/PMC4892230.md","variant_annotation_id":1449157006,"variant_haplotypes":"CYP2B6*1, CYP2B6*2","gene":"CYP2B6","drugs":"efavirenz","pmid":26655325,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2B6 *2 is not associated with concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4628029","article_title":"CYP3A5 and ABCB1 genotype influence tacrolimus and sirolimus pharmacokinetics in renal transplant recipients","article_path":"articles/PMC4628029.md","variant_annotation_id":1447520826,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"sirolimus, tacrolimus","pmid":26543771,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of sirolimus or tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340130,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 12.7mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3530397","article_title":"GENOMIC ASSOCIATION ANALYSIS IDENTIFIES MULTIPLE LOCI INFLUENCING ANTIHYPERTENSIVE RESPONSE TO AN ANGIOTENSIN II RECEPTOR BLOCKER","article_path":"articles/PMC3530397.md","variant_annotation_id":827921925,"variant_haplotypes":"rs3758785","gene":"GPR83","drugs":"candesartan","pmid":22566498,"phenotype_category":"Efficacy","significance":"yes","notes":"Heterozygotes had intermediate response and pattern was the same for both SBP and DBP.","sentence":"Genotype GG is associated with increased response to candesartan in people with Essential hypertension as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522397,"variant_haplotypes":"rs11615","gene":"ERCC1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928121,"variant_haplotypes":"rs362267","gene":"HTT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele T is associated with decreased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4190075","article_title":"ABCC3 and OCT1 genotypes influence pharmacokinetics of morphine in children","article_path":"articles/PMC4190075.md","variant_annotation_id":1184998684,"variant_haplotypes":"rs4793665","gene":"ABCC3","drugs":"morphine","pmid":25155932,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with the CC genotype had higher levels of morphine-3-glucuronide and morphine-6-glucuronide metabolite formation compared to the CT and TT genotype.","sentence":"Genotype CC is associated with increased metabolism of morphine in children as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC1874262","article_title":"CYP2C9 polymorphism and warfarin dose requirements","article_path":"articles/PMC1874262.md","variant_annotation_id":982038144,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":11966680,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794086,"variant_haplotypes":"rs4742","gene":"DCTD","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups. This study presented this SNP as rs7663494, but dbSNP has merged that rsID with rs4742.","sentence":"Genotype GG is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002998,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"However, the presence of the G (5.92 days) allele was associated with a prolonged duration of hospitalization as compared to the A allele (5.51 days) (P = 0.006). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele G is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5610780","article_title":"Correlation between Rs2108622 Locus of CYP4F2 Gene Single Nucleotide Polymorphism and Warfarin Dosage in Iranian Cardiovascular Patients","article_path":"articles/PMC5610780.md","variant_annotation_id":1449192000,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":29201113,"phenotype_category":"Dosage","significance":"yes","notes":"Patients were divided into two groups: those who required more than 5 mg/day of warfarin (Group B) and those who required less than 5 mg/day of warfarin (Group A). Within Group B, the frequency of the T allele was 44% vs. 30% in Group A.","sentence":"Allele T is associated with increased dose of warfarin in people with Cardiovascular Diseases as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666874,"variant_haplotypes":"rs1501299","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotypes GT + TT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype TT.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002444,"variant_haplotypes":"rs2289310","gene":"DLG5","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"not stated","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Five SNPs (rs2289310 G>T; rs1047840 G>A; rs17431184 T>C; rs17160359 G>T; rs2236722 A>G) were identified to be more common in the \"non-responder\" phenotype using a logistic regression multivariate model. The AUC for the receiver operating characteristic curve of the 5 SNPs is 0.875. This logistic-based multivariate model is said to be able to identify 39.1% of non-responders.","sentence":"Allele T is associated with increased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11481807","article_title":"Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder","article_path":"articles/PMC11481807.md","variant_annotation_id":1452647505,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"escitalopram","pmid":39407134,"phenotype_category":"Efficacy","significance":"no","notes":"\"No significant differences were observed in the distribution of predicted CYP2C19 and CYP2D6 metabolizer phenotypes between responder and non-responder groups.\"","sentence":"CYP2D6 poor metabolizer is not associated with decreased response to escitalopram in people with Major Depressive Disorder as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995786,"variant_haplotypes":"rs13269021","gene":"ANGPT2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560381,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448432559,"variant_haplotypes":"rs35621","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes CT + TT are associated with increased exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11102100","article_title":"Evaluation of CYP2C19 Genetic Variant and Its Lack of Association with Valproic Acid Plasma Concentrations Among Zhuang and Han Schizophrenia Patients in Guangxi","article_path":"articles/PMC11102100.md","variant_annotation_id":1452488240,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"valproic acid","pmid":38765788,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"The standardized VPA blood concentrations for the NM, IM, and PM metabolic phenotypes exhibited a gradual increase without statistical significance. Furthermore, while differences in blood concentrations among different age groups were not statistically significant, females had significantly higher blood concentrations than males, with statistical significance. Table 6.\"","sentence":"CYP2C19 *2/*2 + *2/*3 (assigned as poor metabolizer phenotype) is associated with increased concentrations of valproic acid in people with Schizophrenia as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550271,"variant_haplotypes":"rs362626","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3944214","article_title":"Characterization of Statin Dose-response within Electronic Medical Records","article_path":"articles/PMC3944214.md","variant_annotation_id":1451355120,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":24096969,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is associated with simvastatin potency (ED50) from dose-response curves in EMRs.","sentence":"Genotypes CC + CT are associated with decreased response to simvastatin.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2492917","article_title":"Lack of tacrolimus circadian pharmacokinetics and CYP3A5 pharmacogenetics in the early and maintenance stages in Japanese renal transplant recipients","article_path":"articles/PMC2492917.md","variant_annotation_id":1183959847,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":18429967,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"+ AA. No significant differences in dose-adjusted area under the concentration-time curve from 0-12 hours (AUC0-12/D), dose-adjusted trough level (C0/D), dose-adjusted maximum plasma concentration (Cmax/D), body weight-adjusted clearance or AUC0-12 were seen between any of the CC, CT, AC, AT or AA genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to genotypes AC + AT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + AT","comparison_metabolizer_types":null} -{"pmcid":"PMC3675749","article_title":"Influences of Organic Cation Transporter Polymorphisms on the Population Pharmacokinetics of Metformin in Healthy Subjects","article_path":"articles/PMC3675749.md","variant_annotation_id":1183682344,"variant_haplotypes":"rs12943590","gene":"SLC47A2","drugs":"metformin","pmid":23417334,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in area under the serum concentration-time curve from zero to infinity (AUCinf) or peak concentration (Cmax) of metformin was seen between the two genotype groups.","sentence":"Genotype GG is not associated with increased clearance of metformin in healthy individuals as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4224698","article_title":"FTO rs9939609 polymorphism is associated with metabolic disturbances and response to HCV therapy in HIV/HCV-coinfected patients","article_path":"articles/PMC4224698.md","variant_annotation_id":1444668581,"variant_haplotypes":"rs9939609","gene":"FTO","drugs":"\"interferon alfa-2a, recombinant\", \"interferon alfa-2b, recombinant\", \"ribavirin\"","pmid":25367448,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AT is associated with decreased response to interferon alfa-2a, recombinant, interferon alfa-2b, recombinant and ribavirin in people with Hepatitis C, Chronic and HIV Infections as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245444,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"aspirin","pmid":21392617,"phenotype_category":"Efficacy","significance":"no","notes":"Aspirin 81-325 mg/d for at least 2 weeks. ADP-induced ex vivo platelet aggregation was measured. *17 SNP. Comparison was between T carriers and non-carriers. [stat_test: chi-square]","sentence":"Allele T is not associated with increased response to aspirin in people with Coronary Artery Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5264271","article_title":"Assessment of Human Tribbles Homolog 3 Genetic Variation (rs2295490) Effects on Type 2 Diabetes Patients with Glucose Control and Blood Pressure Lowering Treatment","article_path":"articles/PMC5264271.md","variant_annotation_id":1448602034,"variant_haplotypes":"rs2295490","gene":"TRIB3","drugs":"indapamide, perindopril","pmid":27793583,"phenotype_category":"Efficacy","significance":"no","notes":"SBP presented no remarkable difference between AA and AG+GG genotype groups. In the group receiving therapy, AA genotype carriers had a mean decrease of DBP of 0.8mmHg. No difference was seen in SBP.","sentence":"Genotype AA is associated with increased response to indapamide and perindopril in people with Diabetes Mellitus, Type 2 as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4488893","article_title":"Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption","article_path":"articles/PMC4488893.md","variant_annotation_id":1447984307,"variant_haplotypes":"rs4803381","gene":"CYP2A6","drugs":"bupropion, Drugs used in nicotine dependence","pmid":26132489,"phenotype_category":"Efficacy","significance":"yes","notes":"The T allele was nominally significantly associated with six month abstinence in one arm of 66 individuals first treated with combined nicotine replacement therapy (NRT) and bupropion from baseline to 12 weeks and then randomized to chronic bupropion (P = 0.023).","sentence":"Allele T is associated with increased response to bupropion and Drugs used in nicotine dependence in people with Tobacco Use Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3779247","article_title":"Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C","article_path":"articles/PMC3779247.md","variant_annotation_id":1444706633,"variant_haplotypes":"rs2228570","gene":"VDR","drugs":"peginterferon alfa-2b, ribavirin","pmid":24073221,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Allele A is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5378677","article_title":"A genetic variant in Rassf1a predicts outcome in mCRC patients treated with cetuximab plus chemotherapy: results from FIRE-3 and JACCRO 05 and 06 trials","article_path":"articles/PMC5378677.md","variant_annotation_id":1449750580,"variant_haplotypes":"rs2073498","gene":"RASSF1","drugs":"cetuximab","pmid":27698403,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in tumor response, progression-free survival or overall survival was seen between the genotype groups. Patients also receiving treatment with fluorouracil, leucovorin and irinotecan (FOLFIRI).","sentence":"Genotypes AA + AC is not associated with response to cetuximab in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4574839","article_title":"Progressive decline in tacrolimus clearance after renal transplantation is partially explained by decreasing CYP3A4 activity and increasing haematocrit","article_path":"articles/PMC4574839.md","variant_annotation_id":1447673635,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26114223,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *3/*3 genotype had increased trough concentrations (both dose-corrected and non-dose-corrected), increased area under the concentration-time curve from 0-12 hours (AUC0-12; both dose-corrected and non-dose-corrected), decreased clearance (both weight-adjusted and non-weight-adjusted) and decreased dose as compared to those with the *1/*3 genotype.","sentence":"CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC11314417","article_title":"Allergic bronchopulmonary aspergillosis as an initial manifestation of cystic fibrosis: Diagnostic and therapeutic implications in the era of CFTR modulators","article_path":"articles/PMC11314417.md","variant_annotation_id":1452562212,"variant_haplotypes":"CFTR D1152H, CFTR R347H","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":39131200,"phenotype_category":"Efficacy","significance":"no","notes":"\"We present the case of a 20-year-old male with ABPA and bronchiectasis that was initially misdiagnosed as a result of normal sweat chloride values and negative first-level genetic testing results. Comprehensive CFTR gene sequencing revealed 2 pathogenic variants, R347H and D1152H, which together with the clinical phenotype and functional tests, supported the diagnosis of CF. Treatment with elexacaftor/tezacaftor/ivacaftor resulted in significant clinical and functional improvement, including a marked decrease in total IgE levels, suggesting a potential role for CFTR modulators in controlling ABPA. \"","sentence":"CFTR R347H + D1152H is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis and Aspergillosis.","alleles":"R347H + D1152H","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cystic Fibrosis, Other:Aspergillosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9028965","article_title":"Influence of Receptor Polymorphisms on the Response to \u03b1-Adrenergic Receptor Blockers in Pheochromocytoma Patients","article_path":"articles/PMC9028965.md","variant_annotation_id":1451770120,"variant_haplotypes":"rs553668","gene":"ADRA2A","drugs":"doxazosin, phenoxybenzamine","pmid":35453646,"phenotype_category":"Dosage","significance":"no","notes":"\"The G alleles of rs10515807 in the ADRA1B gene and rs553668 in the ADRA2A gene both caused a three times lower risk of being in a higher dosage step than allele A\" \"However, none of these significances survived the multiple testing correction.\"","sentence":"Allele G is associated with decreased dose of doxazosin or phenoxybenzamine in people with Pheochromocytoma or Paraganglioma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pheochromocytoma, Other:Paraganglioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5546852","article_title":"Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention","article_path":"articles/PMC5546852.md","variant_annotation_id":1448617649,"variant_haplotypes":"rs3212185","gene":"HNF4A","drugs":"metformin","pmid":28453780,"phenotype_category":"Efficacy","significance":"no","notes":"Subjects were at high risk of diabetes and were recruited from Diabetes Prevention Program (DPP) and were followed for a year. The authors measured changes in response to insulin at baseline and one year after treatment. The C allele was not associated with response to Metformin (vs. Placebo) and after multiple testing corrections.","sentence":"Genotype CT is not associated with response to metformin as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310660,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":"This is the defining SNP of CYP2C9*3","sentence":"Allele C is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699018,"variant_haplotypes":"rs7855716","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438420,"variant_haplotypes":"rs12777823","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522322,"variant_haplotypes":"GSTM1 non-null, GSTM1 null","gene":"GSTM1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"GSTM1 null/null is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to GSTM1 non-null/non-null + non-null/null.","alleles":"null/null","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"non-null/non-null + non-null/null","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715471,"variant_haplotypes":"rs4296738","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele A is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9297921","article_title":"CYP2C19 Loss\u2010of\u2010function Polymorphisms are Associated with Reduced Risk of Sulfonylurea Treatment Failure in Chinese Patients with Type 2 Diabetes","article_path":"articles/PMC9297921.md","variant_annotation_id":1451905400,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"sulfonamides, urea derivatives","pmid":34656068,"phenotype_category":"Efficacy","significance":"yes","notes":"CYP2C19 poor metabolizers had lower risk of SU treatment failure and were more likely to reach the HbA1c treatment target < 7% than wild-type carriers (CYP2C19 *1/*1).","sentence":"CYP2C19 *2/*2 + *2/*3 + *3/*3 (assigned as poor metabolizer phenotype) are associated with increased response to sulfonamides, urea derivatives in people with Diabetes Mellitus, Type 2 as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2773991","article_title":"Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770","article_path":"articles/PMC2773991.md","variant_annotation_id":981755710,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor","pmid":19846789,"phenotype_category":"Efficacy","significance":"yes","notes":"In vitro assays that show that ivacaftor potentiates CFTR with the F508del mutation (rs113993960 del) *in cells that have been temperature corrected to enhance expression of F508del CFTR at the plasma membrane* - see details described in study parameters.","sentence":"Allele del is associated with increased response to ivacaftor.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747038,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*23, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *23 is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*23","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672860,"variant_haplotypes":"rs140471703","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. This is the defining SNP of the CYP2A6*41 allele.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7655626","article_title":"Pharmacogenetic Interactions of Rifapentine plus Isoniazid with Efavirenz or Nevirapine","article_path":"articles/PMC7655626.md","variant_annotation_id":1451308144,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"efavirenz","pmid":32815870,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"NAT2 slow acetylators also had greater plasma efavirenz and nevirapine concentration increases from baseline to week 4, and greater decreases from baseline in clearance.","sentence":"NAT2 slow acetylator is associated with increased concentrations of efavirenz in people with HIV Infections.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11862786","article_title":"Population pharmacokinetics of tacrolimus whole blood and peripheral blood mononuclear cell concentrations in stable kidney\u2010transplanted patients","article_path":"articles/PMC11862786.md","variant_annotation_id":1452640280,"variant_haplotypes":"rs3814055","gene":"NR1I2","drugs":"tacrolimus","pmid":39390741,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"Interestingly, patients homozygousfor the NR1I2-25 385T allele had 60.7% higher RC:PBMC than carriersof the C allele (Table 2 and Figure 4D). \" RC:PBMC = ratio of tacrolimus whole blood to PBMCconcentration","sentence":"Genotype TT is associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC2014382","article_title":"Fluoxetine inhibits the metabolism of tolterodine\u2014pharmacokinetic implications and proposed clinical relevance","article_path":"articles/PMC2014382.md","variant_annotation_id":1183689806,"variant_haplotypes":"CYP2D6*1, CYP2D6*3, CYP2D6*4","gene":"CYP2D6","drugs":"tolterodine","pmid":10583026,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Study genotyped for *3 and *4 and grouped two non-functional alleles as PM. Study did not report exact genotype of patients.","sentence":"CYP2D6 *3 + *4 are associated with decreased metabolism of tolterodine in women as compared to CYP2D6 *1/*1.","alleles":"*3 + *4","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11317398","article_title":"Genetic variability in the glucocorticoid pathway and treatment outcomes in hospitalized patients with COVID-19: a pilot study","article_path":"articles/PMC11317398.md","variant_annotation_id":1452563140,"variant_haplotypes":"rs6198","gene":"NR3C1","drugs":"dexamethasone","pmid":39135792,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Homozygotes for polymorphic NR3C1 rs6198 allele needed significantly longer hospitalization (median 45 days) compared to heterozygotes (11 days) or non-polymorphic homozygotes (9 days) (p adj = 0.001). \"","sentence":"Genotype CC is associated with increased time to response to dexamethasone in people with COVID-19 as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:COVID-19","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2291379","article_title":"Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants","article_path":"articles/PMC2291379.md","variant_annotation_id":981476423,"variant_haplotypes":"rs3892097","gene":"CYP2D6","drugs":"amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline, opipramol","pmid":18070221,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"(*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) Tricyclic antidepressants were grouped together for this analysis (45.9 % of patients were taking Amitriptyline; 8.2% Maprotiline;6.6% Clomipramine; 2.9% Nortriptyline;2.4% Imipramine;0.7% Dosulepin;0.3% Doxepin;0.2% Opipramol. Mean TCA dose was significantly lower at the 3rd and 4th prescription (difference 0.11 DDD). Genotypes were not in Hardy-Weinberg equilibrium; frequency below is for a larger population that included patients treated with other antidepressants.","sentence":"Genotype TT is associated with decreased dose of amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline or opipramol in people with Depression as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356745,"variant_haplotypes":"rs1800871","gene":"IL10","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10532840","article_title":"TNF\u03b1 rs1800629 Polymorphism and Response to Anti-TNF\u03b1 Treatment in Beh\u00e7et Syndrome: Data from an Italian Cohort Study","article_path":"articles/PMC10532840.md","variant_annotation_id":1452262396,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"adalimumab, certolizumab pegol, golimumab, infliximab","pmid":37763115,"phenotype_category":"Efficacy","significance":"yes","notes":"\"We identified that 50/58 (86.2%) responders showed the GG genotype and 8/58 (13.8%) responder patients showed the GA genotype, while 9/16 (56.25%) non-responder patients showed the GG genotype and 7/16 (43.75%) the GA genotype\"","sentence":"Genotype GG is associated with increased clinical benefit to adalimumab, certolizumab pegol, golimumab or infliximab in people with Behcet Syndrome as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Behcet Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934350,"variant_haplotypes":"rs398123217","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the C allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Tyr216Cys.","sentence":"Allele C is associated with increased response to migalastat in people with Fabry Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4345081","article_title":"Polymorphisms of GLP-1 Receptor Gene and Response to GLP-1 Analogue in Patients with Poorly Controlled Type 2 Diabetes","article_path":"articles/PMC4345081.md","variant_annotation_id":1452878220,"variant_haplotypes":"rs3765467","gene":"GLP1R","drugs":"exenatide","pmid":25785276,"phenotype_category":"PD","significance":"no","notes":"Alleles complemented. \"The effects of GLP1R genotypes on glucose, insulin, and C-peptide concentrations during the 75\u2009g OGTT after GLP-1 analogue treatment are shown in Figure 3.\" Figure 3 shows CC with increasing insulin while CT/TT has lower increases. \"Quantitative trait loci analysis of GLP1R gene variation with clinical response of GLP1 analogue showed the missense rs3765467 and rs761386 significantly associated with changes in the standard deviation of plasma glucose (SDPG(baseline) - SDPG(treatment with GLP-1 analogue)) (P = 0.041 and 0.019, resp.). The reported P values became insignificant after multiple testing adjustments.\"","sentence":"Genotypes AA + AG is associated with decreased response to exenatide in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470375,"variant_haplotypes":"rs4823613","gene":"PPARA","drugs":"cyclosporine","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"no","notes":"A single steady-state concentration of cyclosporine was collected for each patient 2-7 wks post-transplant and compared to dose of cyclosporine administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of cyclosporine. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele G is not associated with decreased metabolism of cyclosporine in people with Kidney Transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11544447","article_title":"Effect of A118G (rs1799971) single\u2010nucleotide polymorphism of the \u03bc\u2010opioid receptor OPRM1 gene on intraoperative remifentanil requirements in Japanese women undergoing laparoscopic gynecological surgery","article_path":"articles/PMC11544447.md","variant_annotation_id":1452554060,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"remifentanil","pmid":39093709,"phenotype_category":"Dosage","significance":"yes","notes":"\"The average remifentanil infusion rate tended to be higher in patients with the AG genotype than the AA genotype (p\u2009=\u20090.096) and was significantly higher in patients with the GG genotype than the AA genotype (p\u2009=\u20090.019; Figure 1B). Consequently, it was significantly higher in patients with the AG or GG genotype than the AA genotype (p\u2009=\u20090.028; Figure 1B). \" This is during laparoscopic gynecological surgery where there was propofol and remifentanil infusion.","sentence":"Genotypes AG + GG is associated with increased dose of remifentanil in women with surgery as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4183989","article_title":"Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans","article_path":"articles/PMC4183989.md","variant_annotation_id":1184512426,"variant_haplotypes":"rs7856096","gene":"FPGS","drugs":"warfarin","pmid":25079360,"phenotype_category":"Dosage","significance":"yes","notes":"In the combined cohort each minor allele of rs7856096 contributed to -5.81 mg/week change in predicted dose (p= 3.93E-5) using the IWPC algorithm.","sentence":"Allele G is associated with decreased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679361,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"esomeprazole, lansoprazole, omeprazole, rabeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *1/*2 or *1/*3 genotype. This was a meta-analysis and included 16 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received antibiotics as part of triple therapy: either amoxicillin and clarithromycin, amoxicillin and metronidazole, or amoxicillin and levofloxacin.","sentence":"CYP2C19 *1/*1 is associated with decreased response to esomeprazole, lansoprazole, omeprazole or rabeprazole in people with Helicobacter Infections as compared to CYP2C19 *1/*2 + *1/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC2943151","article_title":"Dual specificity phosphatase-1 as a pharmacogenetic modifier of inhaled steroid response among asthma patients","article_path":"articles/PMC2943151.md","variant_annotation_id":769174165,"variant_haplotypes":"rs881152","gene":"DUSP1","drugs":"salbutamol","pmid":20673984,"phenotype_category":"Efficacy","significance":"no","notes":"Subjects were taking inhaled corticosteroids.","sentence":"Allele G is not associated with increased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713604,"variant_haplotypes":"rs1136201","gene":"ERBB2","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"yes","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival.","sentence":"Allele G is associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922834,"variant_haplotypes":"rs1056836","gene":"CYP1B1","drugs":"paclitaxel","pmid":22527101,"phenotype_category":"Efficacy","significance":"no","notes":"Response = complete clinical response (cCR). Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel. Also reported in article as CYP1B1*3;C>G. Gene is on negative strand, so annotated as *3 = C.","sentence":"Genotypes CC + CG are not associated with increased response to paclitaxel in women with Breast Neoplasms as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767243,"variant_haplotypes":"rs12518285","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4365300","article_title":"TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy","article_path":"articles/PMC4365300.md","variant_annotation_id":1444702671,"variant_haplotypes":"rs2240340","gene":"PADI4","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":25834819,"phenotype_category":"Efficacy","significance":"no","notes":"using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.","sentence":"Allele T is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161620,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in methadone dose between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP3A5 *3/*3 is not associated with dose of methadone in people with Opioid-Related Disorders as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510946,"variant_haplotypes":"UGT1A6*2a","gene":"UGT1A6","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the objective response rate was seen between those with the *2 allele (82% responders) and those without one (63%).","sentence":"UGT1A6 *2a is not associated with response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.","alleles":"*2a","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8553963","article_title":"Influence of Cytochrome P450 2C19 Genotype on Helicobacter pylori Proton Pump Inhibitor-Amoxicillin-Clarithromycin Eradication Therapy: A Meta-Analysis","article_path":"articles/PMC8553963.md","variant_annotation_id":1451581580,"variant_haplotypes":"CYP2C19 normal metabolizer genotype","gene":"CYP2C19","drugs":"amoxicillin, clarithromycin, lansoprazole","pmid":34721043,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Meta-analysis of studies that used omeprazole and lansoprazole as the first-generation PPI showed that the RR of failed eradication in CYP2C19 EMs compared with PMs\"","sentence":"CYP2C19 normal metabolizer is associated with decreased clinical benefit to amoxicillin, clarithromycin and lansoprazole in people with Helicobacter Infections as compared to CYP2C19 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983338,"variant_haplotypes":"rs2112460","gene":"CACNA1A","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (A). Response considered to be successful with a 50% reduction at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele A is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5145728","article_title":"GENOME-WIDE AND GENE-BASED META-ANALYSES IDENTIFY NOVEL LOCI INFLUENCING BLOOD PRESSURE RESPONSE TO HYDROCHLOROTHIAZIDE","article_path":"articles/PMC5145728.md","variant_annotation_id":1448423646,"variant_haplotypes":"rs177852","gene":"TTC6","drugs":"hydrochlorothiazide","pmid":27802415,"phenotype_category":"Efficacy","significance":"yes","notes":"Participants were from the PEAR-1 black cohort. This association was associated with DBP response.","sentence":"Genotypes CC + CT is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9031832","article_title":"Influence of COMT (rs4680) and DRD2 (rs1076560, rs1800497) Gene Polymorphisms on Safety and Efficacy of Methylphenidate Treatment in Children with Fetal Alcohol Spectrum Disorders","article_path":"articles/PMC9031832.md","variant_annotation_id":1451769162,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"methylphenidate","pmid":35457347,"phenotype_category":"Efficacy","significance":"no","notes":"\"No association of the studied polymorphisms: DRD2 rs1076560:C > A or DRD2 rs1800497:G > A with the efficacy or safety of MPH treatment was observed\"","sentence":"Allele A is not associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity and Fetal Alcohol Syndrome as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity, Other:Fetal Alcohol Syndrome","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356733,"variant_haplotypes":"rs419598","gene":"IL1RN","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449166167,"variant_haplotypes":"rs10011796","gene":"ABCG2","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of allopurinol in people with Gout as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5526237","article_title":"Association between the XRCC1 polymorphisms and clinical outcomes of advanced NSCLC treated with platinum-based chemotherapy: a meta-analysis based on the PRISMA statement","article_path":"articles/PMC5526237.md","variant_annotation_id":1448640030,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"platinum","pmid":28743242,"phenotype_category":"Efficacy","significance":"yes","notes":"Pooled odds ratios (ORs) were performed for an allele model, a homozygous model, a heterozygous model, a recessive model and a dominant model. The association was significant for response rate and overall survival with the recessive model, but was not associated with progression free survival.","sentence":"Genotypes CT + TT is associated with decreased response to platinum in people with Lung Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3656883","article_title":"Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements","article_path":"articles/PMC3656883.md","variant_annotation_id":1185002313,"variant_haplotypes":"rs55894764","gene":"VKORC1","drugs":"acenocoumarol","pmid":23691226,"phenotype_category":"Dosage","significance":"yes","notes":"16 vs 14 mg/week.","sentence":"Genotypes CT + TT is associated with increased dose of acenocoumarol as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613410,"variant_haplotypes":"rs4986893","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"Allele G is not associated with metabolism of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166106,"variant_haplotypes":"rs1048786","gene":"PDIA2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3506814","article_title":"Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population","article_path":"articles/PMC3506814.md","variant_annotation_id":1183699659,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"bevacizumab","pmid":23204795,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in improvement in visual acuity (using a Snellen eye exam chart then converted to a logarithm of the minimal angle of resolution value) or changes in central macular thickness (measured by optical coherence tomography) were seen between the genotypes, over either 6 or 12 months of treatment.","sentence":"Genotype CT is not associated with response to bevacizumab in people with Macular Degeneration as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814214,"variant_haplotypes":"rs57064725","gene":"PSMA4","drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. This SNP was detected as a residual association after accounting for rs10851907.","sentence":"Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654392,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - n=23 children had the *1/*3 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and *3 as rs1057910.","sentence":"CYP2C9 *1/*3 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715478,"variant_haplotypes":"rs11931604","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3433845","article_title":"Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success","article_path":"articles/PMC3433845.md","variant_annotation_id":827921996,"variant_haplotypes":"rs16969968","gene":"CHRNA3, CHRNA5","drugs":"Drugs used in nicotine dependence","pmid":22648373,"phenotype_category":"Other","significance":"yes","notes":"in haplotype analysis; individuals with haplotype 2 (rs16969968 allele G - rs680244 allele T) were more likely to respond to active treatment/ had a lower risk of relapse (ability to quit smoking as measured by time to relapse to smoking over 60 days) than those with haplotype 2 that were treated with placebo. The ability to quit cigarette smoking was not significantly different in individuals with haplotype 1 (rs16969968 allele G - rs680244 allele C) that underwent active treatment compared to placebo (p=0.36).","sentence":"Allele G is associated with increased response to Drugs used in nicotine dependence in people with Tobacco Use Disorder.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631741,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele T is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820472,"variant_haplotypes":"rs9200","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considering RECIPIENT genotype - those with the CC or CT genotype had decreased concentration/dose ratios as compared to those with the TT genotype at weeks 1, 2 and 3 of treatment. No significant difference was seen at week 4. In multiple linear regression analysis, recipient rs9200 genotype was associated with concentration/dose ratio at week 1 (p=0.005), 2 (p=0.045) and 3 (p=0.033) of treatment. Patients with hepatocellular carcinoma. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are associated with decreased dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6411020","article_title":"Genetic Polymorphisms in Aquaporin 1 as Risk Factors for Malignant Mesothelioma and Biomarkers of Response to Cisplatin Treatment","article_path":"articles/PMC6411020.md","variant_annotation_id":1450936460,"variant_haplotypes":"rs28362731","gene":"AQP1","drugs":"cisplatin","pmid":30840592,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between genotype and progress-free survival, overall survival or chemotherapy response in patients with malignant mesothelioma who were treated with cisplatin-based chemotherapy.","sentence":"Genotype AG is not associated with response to cisplatin in people with Mesothelioma as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mesothelioma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356805,"variant_haplotypes":"rs696","gene":"NFKBIA","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased dose of sufentanil in people with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452027063,"variant_haplotypes":"rs11188059","gene":"CYP2C18","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared with the reference group (CYP2C19*1/*1), a lower sertraline serum concentration was observed in CYP2C19*17/*17 (21.6% decrease, n = 44, p = 0.003), CYP2C:TG/CYP2C:TG (rs2860840 and rs11188059 together; 21.2% decrease, n = 26, p = 0.022), CYP2C19*17/ CYP2C:TG (20.0% decrease, n = 65, p = 0.003), and CYP2C19*1/*17 (17.0% decrease, n = 150, p < 0.001) patients, while no significant impact of CYP2C19*1/ CYP2C:TG genotype was detected in this patient population (n = 142, p > 0.1).","sentence":"Genotype GG is associated with decreased concentrations of sertraline as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589740,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotype AA is associated with decreased dose of warfarin as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC9321338","article_title":"Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients","article_path":"articles/PMC9321338.md","variant_annotation_id":1452110320,"variant_haplotypes":"rs8192552","gene":"MTNR1B","drugs":"vincristine","pmid":35884569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in a subset of study of vincristine-induced peripheral neuropathy with PK measurements.","sentence":"Genotype AG is associated with increased exposure to vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia, Other:Hodgkin Disease, Other:Rhabdomyosarcoma, Other:Medulloblastoma, Other:Glioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7497848","article_title":"Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer","article_path":"articles/PMC7497848.md","variant_annotation_id":1449146823,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"tipiracil hydrochloride, trifluridine","pmid":28992563,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was tested for association alone and with three other SNPs after univariate and multivariate analysis in a training (N= 52, Japan) and testing cohorts (N = 127, Italy). It was not significantly associated with progression-free or overall survival in either cohort.","sentence":"Allele A is not associated with response to tipiracil hydrochloride and trifluridine in people with Colorectal Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8185249","article_title":"Genome-wide association study of letrozole plasma concentrations identifies non-exonic variants that may affect CYP2A6 metabolic activity","article_path":"articles/PMC8185249.md","variant_annotation_id":1451928000,"variant_haplotypes":"rs56113850","gene":"CYP2A6","drugs":"letrozole","pmid":34096894,"phenotype_category":null,"significance":"not stated","notes":"Study indicates lower metabolic activity for the T allele, as indicated by higher letrozole concentrations (\u03b2 = 1.45)","sentence":"Allele T is associated with increased concentrations of letrozole in women with Breast Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612409,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele C is not associated with clearance of talinolol in healthy individuals as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5875353","article_title":"ADCY9 Genetic Variants and Cardiovascular Outcomes With Evacetrapib in Patients With High-Risk Vascular Disease: A Nested Case-Control Study","article_path":"articles/PMC5875353.md","variant_annotation_id":1449189139,"variant_haplotypes":"rs1967309","gene":null,"drugs":"evacetrapib","pmid":29525816,"phenotype_category":"Efficacy","significance":"no","notes":"After adjusting for risk factors, the OR for the AA genotype was 0.93 (95% CI, 0.73-1.19), for the AG genotype 1.05 (95% CI, 0.91-1.22), and for the GG genotype 1.02 (95% CI 0.85-1.24); P-value for interaction was P=0.71 and for trend P = 0.59. There was no association with changes in HDL-c, LDL-c, hsCRP, systolic or diastolic blood pressure.","sentence":"Allele A is not associated with response to evacetrapib in people with Cardiovascular Diseases as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163245,"variant_haplotypes":"rs1946519","gene":"IL18","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This SNP is a proxy for rs1946518 (A-607C).","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4868001","article_title":"Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy","article_path":"articles/PMC4868001.md","variant_annotation_id":1449565868,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"phenytoin","pmid":27179628,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 *1/*2 is not associated with dose of phenytoin in children with as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6231319","article_title":"ADRB2 Gene Polymorphisms and Salbutamol Responsiveness in Serbian Children with Asthma","article_path":"articles/PMC6231319.md","variant_annotation_id":1451341447,"variant_haplotypes":"rs1042714","gene":"ADRB2","drugs":"salmeterol","pmid":30425908,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association of +79C>G polymorphisms with the asthma severity and bronchodilator response to inhaled salbutamol was found.","sentence":"Allele G is not associated with increased response to salmeterol in children Asthma as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11685162","article_title":"RAD51 and RAD50 genetic polymorphisms from homologous recombination repair pathway are associated with disease outcomes and organ toxicities in AML","article_path":"articles/PMC11685162.md","variant_annotation_id":1452800940,"variant_haplotypes":"rs2299014","gene":"RAD50","drugs":"cytarabine, daunorubicin","pmid":39738991,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. \"All patients received remission induction chemotherapy with daunorubicin (45 mg/m2 per day for 3 days) and standard-dose cytosine arabinoside (200 mg/m2 per day for 7 days) with or without recombinant human granulocyte colony-stimulating factor.\" \"As demonstrated in Table 2, RAD50 rs2299014 (p\u2009<\u20090.01) and RAD51 rs1801320 (p\u2009=\u20090.012) variant alleles were associated with resistant disease.\"","sentence":"Genotypes AA + AC is associated with increased resistance to cytarabine and daunorubicin in people with Leukemia, Myeloid, Acute as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163587,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this variant passed validation in the EA cohort. Direction of effect was not stated.","sentence":"Allele T is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11240873","article_title":"Precision Dosing for Tacrolimus Using Genotypes and Clinical Factors in Kidney Transplant Recipients of European Ancestry","article_path":"articles/PMC11240873.md","variant_annotation_id":1451714346,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tacrolimus","pmid":33512723,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The A allele is equivalent to the CYP3A4*22 allele.","sentence":"Genotypes AA + AG are associated with decreased clearance of tacrolimus in people with Kidney Transplantation as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC8100460","article_title":"CYP3A5 and UGT1A9 Polymorphisms Influence Immunosuppressive Therapy in Pediatric Kidney Transplant Recipients","article_path":"articles/PMC8100460.md","variant_annotation_id":1451652220,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":33967795,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased dose-adjusted trough concentrations of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC6248022","article_title":"A Low Fixed Tacrolimus Starting Dose Is Effective and Safe in Chinese Renal Transplantation Recipients","article_path":"articles/PMC6248022.md","variant_annotation_id":1449749486,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29735966,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in renal function after transplantation, rate of delayed graft function, or rate of acute rejection within 30 days after transplant was found between the two genotype groups.","sentence":"CYP3A5 *3/*3 is not associated with response to tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622310,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in median 24 hour intragastric pH or serum gastrin area under the concentration-time curve from 0-24 hours (AUC0-24) were seen between genotypes. Subjects were given rabeprazole for 8 days; 24 hour intragastric pH and serum gastrin AUC were measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 allele was referred to by its previous designation (CYP2C19*m1).","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in healthy individuals as compared to CYP2C19 *2/*2.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672960,"variant_haplotypes":"rs148693084","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4503374","article_title":"Individual and combined associations of genetic variants in CYP3A4, CYP3A5, and SLCO1B1 with simvastatin and simvastatin acid plasma concentrations","article_path":"articles/PMC4503374.md","variant_annotation_id":1446896983,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin, simvastatin acid","pmid":26164721,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients were followed for 6 weeks (40 mg simvastatin at bedtime) and seen at the clinic at 2 week intervals. Patients with the CT and CC genotypes had 71% and 248% higher plasma simvastatin acid at 12 hours, respectively, as compared to those with the TT genotypes.; In a separate analysis, the authors combined patients into groups based on their expected simvastatin acid/ simvastatin ratios (SVA/SV). The groups were low, intermediate, or high. The high and medium SVA/SV group included carriers of the C allele. There was a significant difference in 12 hr plasma SVA/SV ratios between the low, intermediate, and high SVA/SV ratio genotype groups","sentence":"Allele C is associated with increased concentrations of simvastatin and simvastatin acid in people with Hypercholesterolemia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4169706","article_title":"Genome-wide association analysis of anti-TNF drug response in rheumatoid arthritis patients","article_path":"articles/PMC4169706.md","variant_annotation_id":981483830,"variant_haplotypes":"rs4411591","gene":null,"drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":23233654,"phenotype_category":"Efficacy","significance":"no","notes":"This is one of three SNPs that showed directional consistency of association in 4 cohorts studied, along with improved p value in a 3 stage meta-analysis compared to the first GWAS stage. p did not reach genome-wide significance.","sentence":"Allele C is associated with response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4330076","article_title":"Pharmacogenomics of Hypertension: A Genome\u2010Wide, Placebo\u2010Controlled Cross\u2010Over Study, Using Four Classes of Antihypertensive Drugs","article_path":"articles/PMC4330076.md","variant_annotation_id":1448099742,"variant_haplotypes":"rs3814995","gene":"NPHS1","drugs":"losartan","pmid":25622599,"phenotype_category":"Efficacy","significance":"no","notes":"Because of the GWAS design, these p-values are suggestive, not significant. Each participant received losartan 50 mg, bisoprolol 5 mg, hydrochlorothiazide 25 mg, and amlodipine 5 mg daily, each as a monotherapy in randomized order for 4 weeks. The study started with a 4-week run-in placebo period, and all 4 drug treatments were separated by 4-week placebo periods. 24-hour ABP readings were recorded at the end of each treatment period.","sentence":"Allele T is associated with increased response to losartan in men with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4557249","article_title":"Association of serotonin transporter (SLC6A4) & receptor (5HTR1A, 5HTR2A) polymorphisms with response to treatment with escitalopram in patients with major depressive disorder: A preliminary study","article_path":"articles/PMC4557249.md","variant_annotation_id":1452040188,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"escitalopram","pmid":26261165,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to escitalopram Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10526247","article_title":"Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients","article_path":"articles/PMC10526247.md","variant_annotation_id":1452263400,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"antiepileptics","pmid":37760947,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. \"good responders were classified as those who were totally free from seizures for at least 1 year during treatment with ASMs as a monotherapy or in combination at optimal tolerated therapeutic doses.\" \"good responders were significantly more likely to have the TT genotypes at rs1045642 and rs2032582 SNPs compared to poor responders.\" Specific antiseizure medications not mentioned.","sentence":"Genotype AA is associated with increased clinical benefit to antiepileptics in children with Epilepsy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165138,"variant_haplotypes":"rs622342","gene":"SLC22A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to metformin as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038097,"variant_haplotypes":"rs5128","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes CC + CG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162717,"variant_haplotypes":"rs11265572","gene":"NR1I3","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767387,"variant_haplotypes":"rs3002145","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3175513","article_title":"Influence of genetic, biological and pharmacological factors on warfarin dose in a Southern Brazilian population of European ancestry","article_path":"articles/PMC3175513.md","variant_annotation_id":1184510339,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":21320153,"phenotype_category":"Dosage","significance":"yes","notes":"in a Southern Brazilian population of European ancestry.","sentence":"Genotypes CT + TT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3544007","article_title":"The MTHFR C677T Variant is Associated with Responsiveness to Disulfiram Treatment for Cocaine Dependency","article_path":"articles/PMC3544007.md","variant_annotation_id":981502284,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"disulfiram","pmid":23335901,"phenotype_category":"Efficacy","significance":"yes","notes":"The drop in percentage of cocaine-positive urines for patients with the CT and TT genotypes over the 10 weeks of disulfiram treatment was significantly greater compared to those with the CC genotype. Please note alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes AA + AG are associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6591035","article_title":"Pharmacogenetic role of dopamine transporter (SLC6A3) variation on response to disulfiram treatment for cocaine addiction","article_path":"articles/PMC6591035.md","variant_annotation_id":1451106680,"variant_haplotypes":"rs28363170","gene":"SLC6A3","drugs":"disulfiram","pmid":31087723,"phenotype_category":"Efficacy","significance":"yes","notes":"GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT allele referred to in the paper as the 10-repeat allele. Patients with the 10,10-repeat genotype showed a significantly greater decrease in the number of cocaine-positive urine tests and a significantly greater increase in the number of cocaine-negative urine tests than patients with either the 9,9-repeat or 9,10-repeat genotypes. This association was not seen in genotyped patients treated with placebo.","sentence":"Genotype GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotypes GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/del + del/del.","alleles":"GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/del + del/del","comparison_metabolizer_types":null} -{"pmcid":"PMC4470685","article_title":"Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma","article_path":"articles/PMC4470685.md","variant_annotation_id":1444929392,"variant_haplotypes":"rs6475448","gene":"MLLT3","drugs":"montelukast","pmid":26083242,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients who were homozygous for rs6475448 showed markedly increased mean d forced expiratory volume (FEV1) from baseline after 8 weeks of montelukast. The largest increase was observed for Leukotriene Modifier or Corticosteroid or Corticosteroid-Salmeterol (LOCCS); the rs6475448-AA genotype was associated with a LS-mean delta FEV1 of 344 mL vs. -4.66 mL for rs6475448-GG genotype. Study Cohort: Discovery cohort (N=133): American Lung Association Asthma Clinical Research Center (ALA-ACRC)-supported trials, the Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol Trial (LOCCS) and Effectiveness of Low Dose Theophylline as Add On Therapy for the Treatment of Asthma (LODO) trials. Replication cohort (N=184): Childhood Asthma Research and Education (CARE) Network- Characterizing the Response to a LT Receptor Antagonist and an Inhaled Corticosteroid and Pediatric Asthma Controller Trial (CLIC and PACT)","sentence":"Genotype AA is associated with increased response to montelukast in people with Asthma as compared to genotype GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2791975","article_title":"A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans","article_path":"articles/PMC2791975.md","variant_annotation_id":1448995871,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":19916993,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects homozygous for CYP2B6*6 (G516T, A785G) displayed 21% lower apparent oral clearance.","sentence":"CYP2B6 *6 is associated with decreased clearance of efavirenz in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7319006","article_title":"Influence of SLCO1B1 polymorphisms on lopinavir C trough in Serbian HIV/AIDS patients","article_path":"articles/PMC7319006.md","variant_annotation_id":1451116369,"variant_haplotypes":"rs4149032","gene":"SLCO1B1","drugs":"lopinavir","pmid":32022294,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Although the T allele was initially found to be significantly associated with decreased trough concentrations of lopinavir, this significance was lost following multivariate regression analysis.","sentence":"Allele T is not associated with trough concentration of lopinavir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491195,"variant_haplotypes":"rs10214163","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype TT is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694865,"variant_haplotypes":"rs1799895","gene":"SOD3","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121640,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test.","sentence":"Allele A is not associated with response to oxycodone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3988270","article_title":"Genetic variation in OPRD1 and the response to treatment for opioid dependence with buprenorphine in European American females","article_path":"articles/PMC3988270.md","variant_annotation_id":1184513638,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"buprenorphine","pmid":24126707,"phenotype_category":"Efficacy","significance":"yes","notes":"Opioid dependence. Four cohorts were analyzed. The first three were women taking buprenorphine or methadone, women taking only buprenorphine and women taking only methadone, where opiod-positive urine drug screens or missing urine drug screens were both considered a \"positive\" drug screen. The fourth was women taking only buprenorphine were missing urine drug screens were coded as \"missing\" and not as \"positive\". No significant results were seen when considering women only taking methadone, but significant results were seen for all other cohorts: women with the AA and AG genotypes were more likely to have opioid-; \"positive\" urine drug screens, as compared to those with the GG genotype. Patients were treated with buprenorphine or methadone for 24 weeks.","sentence":"Genotypes AA + AG is associated with decreased response to buprenorphine in women with Opioid-Related Disorders as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4931969","article_title":"Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment","article_path":"articles/PMC4931969.md","variant_annotation_id":1447680639,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"corticosteroids, Leukotriene receptor antagonists, selective beta-2-adrenoreceptor agonists","pmid":26774659,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to corticosteroids, Leukotriene receptor antagonists and selective beta-2-adrenoreceptor agonists in children with Asthma as compared to genotype GG.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002413,"variant_haplotypes":"rs3218592","gene":"REV3L","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Three non-responder SNPs combined with any one of three SNPs in LD in the UMPS gene (rs2291078 A, rs3772809 G, rs3772810 G) account for 37.5% of all patients that were classified as non-responders to capecitabine/fluorouracil therapy. Combined multivariate collapsing analyses revealed a statistical significance between those SNPs and the \"non-responder\" phenotype.","sentence":"Allele T is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3766937","article_title":"Metabolic capacity of CYP2D6 within an Iranian population (Mazandaran Province)","article_path":"articles/PMC3766937.md","variant_annotation_id":1452861060,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"dextromethorphan","pmid":24024018,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Subjects with metabolic ratio > 0.3 in log scale were classified as PMs and the remaining subjects with metabolic ratios \u2264 0.3 were classified as extensive metabolizers. Metabolic ratio of dextromethorphan/dextrorphan.","sentence":"CYP2D6 poor metabolizer is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407705,"variant_haplotypes":"rs1051660","gene":"OPRK1","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele A is not associated with response to butorphanol in healthy individuals as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5192124","article_title":"Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals","article_path":"articles/PMC5192124.md","variant_annotation_id":1448423579,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"rilpivirine","pmid":27799217,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of rilpivirine in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7613628","article_title":"Influence of CYP2B6 and CYP3A4 polymorphisms on the virologic and immunological responses of patients treated with efavirenz containing regimen","article_path":"articles/PMC7613628.md","variant_annotation_id":1451965060,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz, lamivudine, tenofovir","pmid":35852913,"phenotype_category":"Efficacy","significance":"yes","notes":"Cases = VLS: viral load suppression (HIV-1 RNA copies ml-1less than 50 copies), controls = No VLS (HIV-1 RNA copies ml-1higher than 50 copies) at 6 months treatment. GG v AA was not significant but AG v AA was.","sentence":"Genotypes AG + GG is associated with increased clinical benefit to efavirenz, lamivudine and tenofovir in people with HIV Infections as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566623,"variant_haplotypes":"rs1229976","gene":"ADH1A","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436780,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433786,"variant_haplotypes":"rs1063192","gene":"CDKN2B, CDKN2B-AS1","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele G is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452303340,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen","pmid":36614097,"phenotype_category":"Efficacy","significance":"yes","notes":"\"episodic migraine patients carrying the A allele of the TNF-\u03b1 promoter \u2212308 A/G polymorphism showed a significant association with a lack of efficacy after NSAID administration in migraine attacks compared to the G allele\"","sentence":"Allele A is associated with decreased clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822109,"variant_haplotypes":"rs510769","gene":"OPRM1","drugs":"nicotine","pmid":26042510,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and tobacco consumption.","sentence":"Allele T is not associated with dose of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5548439","article_title":"Genetic coding variants in the niacin receptor, hydroxyl-carboxylic acid receptor 2 (HCAR2), and response to niacin therapy","article_path":"articles/PMC5548439.md","variant_annotation_id":1448635798,"variant_haplotypes":"rs2454727","gene":"HCAR2","drugs":"niacin","pmid":28628560,"phenotype_category":"Efficacy","significance":"no","notes":"The study compared statin + placebo treated patients with statin + extended release niacin treated patients from the from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial. No association of this variant (p.M317I) with changes in low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol at 1 year were found.","sentence":"Genotypes CT + TT is not associated with response to niacin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4104334","article_title":"Identification of Candidate Single-Nucleotide Polymorphisms in NRXN1 Related to Antipsychotic Treatment Response in Patients with Schizophrenia","article_path":"articles/PMC4104334.md","variant_annotation_id":1447674758,"variant_haplotypes":"rs12467557","gene":"NRXN1","drugs":"antipsychotics","pmid":24633560,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients homozygous for the A allele had significant improvement in positive symptoms (p=0.002), general psychopathology (p=0.005), thought disturbance (p=0.005), activation (p=0.005) and negative symptoms (p=0.005), while patients carrying the G allele showed no overall response. No significant results were seen for anergia (p=0.0505), paranoid belligerence (p=0.1212) or depression (p=0.1183). Additionally, no significant results were seen when the associations for positive and negative symptoms and general psychopathology were tested for replication in a different cohort (CATIE study).","sentence":"Genotype AA is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511033,"variant_haplotypes":"CYP2D6*1, CYP2D6*1xN","gene":"CYP2D6","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note; diplotypes were described as *1/*XN, *XN/*XN. Pharmacokinetic model: gender and CYP2D6 metabolizer status explained 11% of the overall variability in donepezil clearance. Model-based simulations were also performed to compared predicted average plasma concentrations with a 10mg once daily dosage regimen suggesting a 41% decrease in average plasma concentrations for ultrarapid metabolizers. Extensive metabolizers were grouped together (diplotypes *1/*3, *1/*4, *1/*5, *1/*6, *1/*1, *4/*1xN, *6/*1xN).","sentence":"CYP2D6 *1/*1xN + *1xN/*1xN (assigned as ultrarapid metabolizer phenotype) is associated with increased clearance of donepezil in people with Alzheimer Disease.","alleles":"*1/*1xN + *1xN/*1xN","specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452437040,"variant_haplotypes":"rs2356369","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6E-7.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5716599","article_title":"Measurements of 6-thioguanine nucleotide levels with TPMT and NUDT15 genotyping in patients with Crohn\u2019s disease","article_path":"articles/PMC5716599.md","variant_annotation_id":1449157093,"variant_haplotypes":"TPMT*1, TPMT*3A, TPMT*3C","gene":"TPMT","drugs":"thioguanine","pmid":29206869,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Study participants were genotyped at rs1142345 for the presence of the TPMT *3 allele. This SNP is found in the TPMT *3A, *3C, *3D and *3E haplotypes and it is not stated which of these haplotypes was found in the study cohort. All participants had either the *1/*1 or *1/*3 genotypes.","sentence":"TPMT *1/*3A + *1/*3C are associated with increased concentrations of thioguanine in people with Crohn Disease as compared to TPMT *1/*1.","alleles":"*1/*3A + *1/*3C","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Crohn Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3672984","article_title":"Association of a Single-Nucleotide Polymorphism in the Pregnane X Receptor (PXR 63396C\u2192T) with Reduced Concentrations of Unboosted Atazanavir","article_path":"articles/PMC3672984.md","variant_annotation_id":1448617354,"variant_haplotypes":"rs1523130","gene":"NR1I2","drugs":"atazanavir","pmid":18831695,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with concentrations of atazanavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757023,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6081148","article_title":"Role of TNFRSF1A and TNFRSF1B polymorphisms in susceptibility, severity, and therapeutic efficacy of etanercept in human leukocyte antigen-B27-positive Chinese Han patients with ankylosing spondylitis","article_path":"articles/PMC6081148.md","variant_annotation_id":1449713732,"variant_haplotypes":"rs1061622","gene":"TNFRSF1B","drugs":"etanercept","pmid":30075559,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to etanercept was determined using the Assessment in Ankylosing Spondylitis 20 (ASAS20) and Assessment in Ankylosing Spondylitis 40 (ASAS40). Patients with the GT genotype had a significantly decreased response to etanercept at 12 months after the initiation of etanercept treatment compared to patients with the GG or TT genotypes. However, there was no significant difference in response between the different genotypes at 3 months after initiation of treatment.","sentence":"Genotype GT is associated with decreased response to etanercept in people with Spondylitis, Ankylosing as compared to genotypes GG + TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Spondylitis, Ankylosing","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4010098","article_title":"Clinical Pharmacology of an Atrasentan and Docetaxel Regimen in Men with Hormone-Refractory Prostate Cancer","article_path":"articles/PMC4010098.md","variant_annotation_id":1185235759,"variant_haplotypes":"rs2250242","gene":"ORM2","drugs":"docetaxel","pmid":24619498,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Systemic docetaxel clearance was 70.0 L/h in those with the AA genotype as compared to 44.5 L/h in those having at least one copy of the wild-type allele.","sentence":"Genotype AA is associated with increased clearance of docetaxel in men with Prostatic Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7215378","article_title":"Naltrexone Use in Treating Hypersexuality Induced by Dopamine Replacement Therapy: Impact of OPRM1 A/G Polymorphism on Its Effectiveness","article_path":"articles/PMC7215378.md","variant_annotation_id":1451353640,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":32344532,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case study of a patient with hypersexuality caused by dopamine replacement therapy who was successfully treated with naltrexone. The authors hypothesize that the response may be mediated by the patient's AG genotype.","sentence":"Genotype AG is associated with increased response to naltrexone in men with hypersexuality state and Parkinson Disease.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Amplification of sexual behavior, Other:Parkinson Disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4343187","article_title":"CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy","article_path":"articles/PMC4343187.md","variant_annotation_id":1445402189,"variant_haplotypes":"rs2072661","gene":"CHRNB2","drugs":"varenicline","pmid":25774163,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes AA + AG are not associated with response to varenicline in people with Tobacco Use Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10179231","article_title":"Genome-Wide Association Study Identifies Genetic Polymorphisms Associated with Estimated Minimum Effective Concentration of Fentanyl in Patients Undergoing Laparoscopic-Assisted Colectomy","article_path":"articles/PMC10179231.md","variant_annotation_id":1452101191,"variant_haplotypes":"rs966775","gene":"DRD1","drugs":"fentanyl","pmid":37176129,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Compared with non-carriers, G-allele carriers of this SNP were associated with higher plasma and/or effect-site MECs of fentanyl, suggesting that G allele carriers would feel pain at a higher plasma/effect-site fentanyl concentration and thus would require more frequent self-dosing of fentanyl for adequate pain control. \"","sentence":"Genotypes AG + GG is associated with increased concentrations of fentanyl in people with Pain, Postoperative as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4160394","article_title":"CYP3A4*22 and CYP3A5*3 are associated with increased levels of plasma simvastatin concentrations in the cholesterol and pharmacogenetics study cohort","article_path":"articles/PMC4160394.md","variant_annotation_id":1184746917,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"simvastatin","pmid":25051018,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A4*22 carriers had 14% higher concentrations; of simvastatin acid (P = 0.04) and 20% higher concentrations of simvastatin lactone; (P= 0.06) compared with noncarriers.","sentence":"CYP3A4 *1/*22 + *22/*22 is associated with concentrations of simvastatin as compared to CYP3A4 *1/*1.","alleles":"*1/*22 + *22/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC8295171","article_title":"CYP2D6 GENOTYPE AND REDUCED CODEINE ANALGESIC EFFECT IN REAL-WORLD CLINICAL PRACTICE","article_path":"articles/PMC8295171.md","variant_annotation_id":1451404282,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"codeine","pmid":33750887,"phenotype_category":"Efficacy","significance":"not stated","notes":"Fewer patients in the pooled PM/IM group were categorized as responders to codeine compared to the pooled NM/UM group. Authors tested for the following alleles: *2, *3, *4, *5, *6, *9, *10, *17, *29, *35, *41, and *42 as well as copy number variation. Diplotypes were mapped to phenotpye groups using the methods in the CPIC/DPWG CYP2D6 Standardization Project.","sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are associated with decreased response to codeine in people with Pain as compared to CYP2D6 normal metabolizer and ultrarapid metabolizer genotypes.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} -{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902873,"variant_haplotypes":"rs12346562","gene":null,"drugs":"bisoprolol","pmid":26425837,"phenotype_category":"Efficacy","significance":"no","notes":"rs12346562 had a trend in association with response to bisoprolol in 207 Finnish men in the genetics of drug responsiveness in essential hypertension study.","sentence":"Genotypes AA + AC is associated with increased response to bisoprolol in people with Hypertension as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161472,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*2xN","gene":"CYP2D6","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2D6 ultrarapid metabolizers had significantly higher doses of methadone compared to those classed as normal metabolizers. No details about which specific variants/alleles were tested for are given and it is not apparent how different genotypes were categorized into metabolizer phenotypes.","sentence":"CYP2D6 *1/*2xN + *2/*2xN (assigned as ultrarapid metabolizer phenotype) are associated with increased dose of methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":"*1/*2xN + *2/*2xN","specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815045,"variant_haplotypes":"rs17382202","gene":"PDE4D","drugs":"quetiapine","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of T alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs17742120 and rs2164660.","sentence":"Allele T is associated with increased response to quetiapine in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC1401654","article_title":"Further evidence for an acetylator phenotype difference in the metabolism of hydralazine in man","article_path":"articles/PMC1401654.md","variant_annotation_id":1451140360,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"hydralazine","pmid":7259927,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Note, NAT2 not specified just categorized in slow and rapid acetylator. Patients' acetylator status was determined by the sulphamethazine method. Subjects were undergoing maintenance therapy with hydralazine, twice daily 100 mg. Patients had been receiving in conjunction with hydralazine a number of other drugs: (numbers of patients indicated):chlorethiazole 1+; bendrofluazide 8; atenolol 7; clonidine 1+; glyceryltrinitrate 1*; propranolol 6; methyldopa 6; oxprenolo l2; digoxin 2+; frusemide 2; naproxen 1+; diazepam 1*; navidrex 2*, moduretic 4; SlowK 7; bethanidine 2 and hydrochlorothiazide 1* (+These drugs were only administered to rapid acetylators; *these drugs were only administered to slow acetylators). The level of the acetylated metabolites NAcHPZ and TP (terminal product of the primary acetylation pathway) are higher in the rapid compared with the slow acetylator phenotype. Conversely the level of PZ is significantly higher in slow compared with rapid acetylators.","sentence":"NAT2 slow acetylator is associated with decreased metabolism of hydralazine in people with Hypertension as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715576,"variant_haplotypes":"rs12645107","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele A is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567934,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in log-transformed dose-adjusted trough concentrations was seen between any of the genotypes *1/*1, *1/*3 or *3/*3.","sentence":"CYP3A5 *1 is not associated with dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to CYP3A5 *3.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3","comparison_metabolizer_types":null} -{"pmcid":"PMC9481373","article_title":"Tacrolimus Concentration Is Effectively Predicted Using Combined Clinical and Genetic Factors in the Perioperative Period of Kidney Transplantation and Associated with Acute Rejection","article_path":"articles/PMC9481373.md","variant_annotation_id":1451893787,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"tacrolimus","pmid":36118414,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"heterozygote had increased C/D but not significantly so.","sentence":"Genotype TT is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629536,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 30 of these 46 were *4/*4. One *4/*4 had been phenotyped on dextromethorphan as EM.","sentence":"CYP2D6 *4/*4 is associated with decreased metabolism of debrisoquine or dextromethorphan.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9768477","article_title":"Roles of the m6A methyltransferases METTL3, METTL14, and WTAP in pulmonary tuberculosis","article_path":"articles/PMC9768477.md","variant_annotation_id":1451974780,"variant_haplotypes":"rs1139130","gene":"METTL3","drugs":"Drugs For Treatment Of Tuberculosis","pmid":36569923,"phenotype_category":"Efficacy","significance":"yes","notes":"drug regimen is not specified.","sentence":"Genotype GG is associated with increased resistance to Drugs For Treatment Of Tuberculosis in people with Tuberculosis as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4116670","article_title":"OCT1 genetic variants influence the pharmacokinetics of morphine in children","article_path":"articles/PMC4116670.md","variant_annotation_id":1451097480,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"morphine","pmid":23859569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with two loss of function SLC22A1 alleles (*2 rs72552763 GAT>del, *3 rs12208357C>T, *4 rs34130495 G>A, or *5 rs34059508 G>A) were grouped together and had significantly lower clearance compared to children with the *1/*1 or *1/variant genotype.","sentence":"Genotype del/del is associated with decreased clearance of morphine in children with adenotonsillectomy as compared to genotypes GAT/GAT + GAT/del.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:adenotonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT/GAT + GAT/del","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491237,"variant_haplotypes":"rs11960832","gene":"SV2C","drugs":"quetiapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype TT is not associated with response to quetiapine in people with Schizophrenia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5074472","article_title":"Pharmacokinetics of Bupropion and Its Pharmacologically Active Metabolites in Pregnancy","article_path":"articles/PMC5074472.md","variant_annotation_id":1448257502,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":27528039,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2B6 *6 is associated with decreased metabolism of bupropion in women with Pregnancy as compared to CYP2B6 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3358293","article_title":"Therapeutic Dosing of Acenocoumarol: Proposal of a Population Specific Pharmacogenetic Dosing Algorithm and Its Validation in North Indians","article_path":"articles/PMC3358293.md","variant_annotation_id":981954427,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"acenocoumarol","pmid":22629463,"phenotype_category":"Dosage","significance":"yes","notes":"Variants at this position in the VKORC1 gene were found to exhibit a gene-dose effect in the following manner: CC>CT>TT. This study also provides an algorithm for predicting the maintenance dose of acenocoumarol using genotypes as well as clinical factors as predictive variables.","sentence":"Genotype CC is associated with increased dose of acenocoumarol as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11269006","article_title":"IL17RB genetic variants are associated with acamprosate treatment response in patients with alcohol use disorder: A proteomics-informed genomics study","article_path":"articles/PMC11269006.md","variant_annotation_id":1452504507,"variant_haplotypes":"rs6801605","gene":"CHDH, IL17RB","drugs":"acamprosate","pmid":38852760,"phenotype_category":"Efficacy","significance":"yes","notes":"\"IL17RB SNPs were associated with acamprosate treatment outcomes. (A) The locus zoom plot shows the top SNPs of the GWAS for IL17RB on chromosome 3. \"\"Our results indicated that the rs6801605 SNP was associated with time until relapse to alcohol use during the three months of acamprosate treatment (p: 0.038) (Fig. 3B).\"","sentence":"Allele A is associated with increased clinical benefit to acamprosate in people with Alcoholism as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11628867","article_title":"Correlation of the DRD2 gene polymorphism with psychopathology and predictive antimanic responses in patients with bipolar mania","article_path":"articles/PMC11628867.md","variant_annotation_id":1452788680,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"lithium, olanzapine","pmid":39660002,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The early response in the 2nd week correlates with genotype GG (see Table 5). The higher early response in the 2nd week in patients with genotype GG of DRD2 gene polymorphism rs1800497 was found than that in patients with genotype AA + AG. Remission in the 8th week also correlates with genotyp GG (see Table 6). The higher remission in the 8th week in patients with genotype GG of DRD2 gene polymorphism rs1800497 was found than that in patients with genotype AA + AG.\" \"Manic patients with genotype GG had a greater improvement in the YMRS score due to a greater early effective response and remission, which was not related to higher doses and serum concentrations of olanzapine and lithium.\"","sentence":"Genotype GG is associated with increased clinical benefit to lithium and olanzapine in people with Bipolar Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5009007","article_title":"A Pharmacogenetic Investigation of Intravenous Furosemide in Decompensated Heart Failure: A Meta-Analysis of 3 Clinical Trials","article_path":"articles/PMC5009007.md","variant_annotation_id":1448424016,"variant_haplotypes":"rs17268282","gene":"ABCC4","drugs":"furosemide","pmid":26927285,"phenotype_category":"Efficacy","significance":"yes","notes":"Decompensated heart failure. Meta-analysis of the DOSE, CARRESS and ROSE randomized trials. Carriers of the T allele experienced a greater amount of weight loss, and therefore an increased response to furosemide, as compared to those with the G allele. No association was seen between this variant and net fluid loss (p=0.12). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele T is associated with increased response to furosemide in people with Heart Failure as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647600,"variant_haplotypes":"rs11782370","gene":null,"drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele T is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5468510","article_title":"A polymorphism in the OPRM1 3\u2032 untranslated region is associated with methadone efficacy in treating opioid dependence","article_path":"articles/PMC5468510.md","variant_annotation_id":1448526029,"variant_haplotypes":"rs10485058","gene":"OPRM1","drugs":"buprenorphine","pmid":27958381,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the percentage of opioid-positive urine drug screens over 24 weeks was seen between patients with the AA and AG+GG genotypes. This SNP was associated with response to methadone treatment.","sentence":"Genotype AA is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183632057,"variant_haplotypes":"rs4791040","gene":"PRKCA","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was with diastolic blood pressure response. It did not reach genome-wide significance when only PEAR + GERA were analyzed, but this SNP was selected for replication in NORDIL and this association was significant. Observations: 4.46 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA, 3.30 mm Hg decreased reduction of diastolic blood pressure per T allele in NORDIL, and 4.17 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is associated with decreased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3988270","article_title":"Genetic variation in OPRD1 and the response to treatment for opioid dependence with buprenorphine in European American females","article_path":"articles/PMC3988270.md","variant_annotation_id":1184513727,"variant_haplotypes":"rs529520","gene":"OPRD1","drugs":"buprenorphine, methadone","pmid":24126707,"phenotype_category":"Efficacy","significance":"no","notes":"Opioid dependence. This genetic variant did not have a significant effect on the percentage of opioid-positive urine drug screens or missing urine drug screens in males. Note that significant results were seen for females. Patients were treated with buprenorphine or methadone for 24 weeks.","sentence":"Allele A is not associated with response to buprenorphine or methadone in men with Opioid-Related Disorders as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5614982","article_title":"Impact of Gastric H+/K+-ATPase rs2733743 on the Intragastric pH-Values of Dexlansoprazole Injection in Chinese Subjects","article_path":"articles/PMC5614982.md","variant_annotation_id":1451136987,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"dexlansoprazole","pmid":29018343,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with metabolism of dexlansoprazole in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6347826","article_title":"Effect of TCF7L2 polymorphism on pancreatic hormones after exenatide in type 2 diabetes","article_path":"articles/PMC6347826.md","variant_annotation_id":1452878400,"variant_haplotypes":"rs7903146","gene":"TCF7L2","drugs":"exenatide","pmid":30700996,"phenotype_category":"Efficacy","significance":"yes","notes":"\"After treatment with exenatide, only CT/TT individuals demonstrated a significant insulin reduction at 30\u2013180 min during the meal test compared with CC subjects (p\u2009<\u20090.05). Patients with the CC genotype presented no differences in insulin concentrations before and after treatment. The area under the insulin curve between 0 and 180 min was similar between groups before exenatide but decreased only in the CT/TT group after exenatide (p\u2009<\u20090.001) (Fig. 1b).\"","sentence":"Genotypes CT + TT is associated with increased response to exenatide in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703568,"variant_haplotypes":"rs12505746","gene":"TET2","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele A is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602091,"variant_haplotypes":"rs2266782","gene":"FMO3","drugs":"cotinine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP is not associated with the pharmacokinetic measures of cotinine. Measures include half-life, Cmax, AUC, non renal clearance, and total clearance.","sentence":"Allele G is not associated with metabolism of cotinine in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375616,"variant_haplotypes":"rs10011796","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele T is associated with decreased response to allopurinol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375599,"variant_haplotypes":"rs4148157","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele A is associated with decreased response to allopurinol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694728,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":25594941,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"130 plasma samples were obtained 12 hours after the last dose of warfarin. The plasma warfarin concentrations of these samples were comparing plasma concentration within the group of patients with INR between 1.5\u20132.5 (n = 92) between genotype groups. rs9923231 was associated with a significant reduction of warfarin plasma concentration ( genotype AA 1117.29\u00b1323.23 ng/ml vs genotype AG 1675.73\u00b1431.09 ng/ml, p < 0.001). rs9923231 was not included in the multiple linear regression analysis because of collinearity. Patients were grouped according to INR and genotypes and those with the G allele needed a higher plasma concentration to achieve the similar goal INR.","sentence":"Genotype TT is associated with decreased concentrations of warfarin in people with as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747509,"variant_haplotypes":"rs1008899","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370833,"variant_haplotypes":"rs8104361","gene":"CYP4F11","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121699,"variant_haplotypes":"rs963549","gene":"OPRK1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele T is not associated with response to oxycodone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003357,"variant_haplotypes":"rs3788200","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: AG+GG (0.45 (0.09\u201341.63)) vs. AA (0.47 (0.11\u201334.05)).","sentence":"Genotypes AG + GG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5449482","article_title":"Effect of Genetic Variability in the CYP4F2, CYP4F11, and CYP4F12 Genes on Liver mRNA Levels and Warfarin Response","article_path":"articles/PMC5449482.md","variant_annotation_id":1448633907,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":28620303,"phenotype_category":"Dosage","significance":"yes","notes":"The T allele was associated with increased stable dose (mg/day) of warfarin and explained 4.3% of the variance in dose. CC=3.7\u00b10.1 CT=4.3\u00b10.2 TT=5.3\u00b10.4. The addition of rs2108622 to PGx algorithm (included CYP2C9, VKORC1) explained a further 0.5\u20130.7% of variability. When conditioned on rs7248867, the association w/ rs2108622 & warfarin dose decreased (beta initial = 0.078, beta conditional = 0.065, initial P-value = 0.003, conditional P-value = 0.015). When conditioned on rs2074568, decrease of magnitude and significance also rs2108622 (beta conditional = 0.069, conditional P-value= 0.009). Suggests that rs7248867 and rs2074568 are correlated with rs2108622.","sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453075980,"variant_haplotypes":"rs2285676","gene":"KCNJ11","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"For KCNJ11 gene polymorphisms, patients with the rs2285676 CC genotype in the study group had a median HbA1c improvement of 1.02 (IQR, 0.90\u20131.22), while the control group showed 1.31 (IQR, 1.08\u20131.42; P\u2005<\u2005.001), indicating more substantial insulin secretion capability with sitagliptin.\"","sentence":"Genotype CC is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4503374","article_title":"Individual and combined associations of genetic variants in CYP3A4, CYP3A5, and SLCO1B1 with simvastatin and simvastatin acid plasma concentrations","article_path":"articles/PMC4503374.md","variant_annotation_id":1446897010,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"simvastatin, simvastatin acid","pmid":26164721,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients were followed for 6 weeks (40 mg simvastatin at bedtime) and seen at the clinic at 2 week intervals.","sentence":"CYP3A5 *3 is not associated with concentrations of simvastatin or simvastatin acid in people with Hypercholesterolemia as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC8445626","article_title":"The genetics of cardiac failure: Role of a G protein-coupled receptor polymorphism in therapeutic response in an Indian population","article_path":"articles/PMC8445626.md","variant_annotation_id":1451863980,"variant_haplotypes":"rs2230345","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":34541364,"phenotype_category":"Efficacy","significance":"yes","notes":"Heart failure patients taking beta blockers were evaluated for cardiac output and hospitalization-free survival.","sentence":"Genotypes AT + TT are associated with increased response to Beta Blocking Agents in people with Heart Failure as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC8184575","article_title":"Effect of race and glucuronidation rates on the relationship between nicotine metabolite ratio and nicotine clearance","article_path":"articles/PMC8184575.md","variant_annotation_id":1451700120,"variant_haplotypes":"rs2942857","gene":"UGT2B10","drugs":"nicotine","pmid":33675323,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No effect of the UGT2B10 variant genotypes on the ability of plasma nicotine metabolite ratio to predict nicotine clearance.","sentence":"Allele A is not associated with clearance of nicotine as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165345,"variant_haplotypes":"rs20417","gene":"PTGS2","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 3 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele C is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2681284","article_title":"Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate","article_path":"articles/PMC2681284.md","variant_annotation_id":769173671,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"methotrexate","pmid":19193698,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5355121","article_title":"Impact of NUDT15 polymorphisms on thiopurines-induced myelotoxicity and thiopurines tolerance dose","article_path":"articles/PMC5355121.md","variant_annotation_id":1448531631,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"azathioprine","pmid":28088792,"phenotype_category":"Dosage","significance":"yes","notes":"Meta-analysis with 13 studies. T allele carriers required 28% lower mean daily thiopurine dose as compared to those with the CC genotype. When patients with acute lymphoblastic leukemia (ALL) and inflammatory bowel disease (IBD) were separated, there was a similar statistically significant dose reduction for both groups.","sentence":"Genotypes CT + TT are associated with decreased dose of azathioprine in people with Inflammatory Bowel Diseases and Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Inflammatory Bowel Diseases, Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4631197","article_title":"Sulfasalazine disposition in a subject with 376C>T (nonsense mutation) and 421C>A variants in the ABCG2 gene","article_path":"articles/PMC4631197.md","variant_annotation_id":1444843306,"variant_haplotypes":"rs72552713","gene":"ABCG2","drugs":"sulfasalazine","pmid":25872459,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"A single individual was compound heterozygous at rs72552713 (CT) and rs2231142 (GT) in BCRP as compared to other individuals who were heterozygous only at rs2231142 (GT). The individual had a higher AUC(0,48 h) as compared to other other individuals who were only heterozygous at rs2231142 (GT) (779 vs.292 \u00b1 97 \u00b5gml\u20131h, respectively) as well as a higher Cmax (50.3 vs.24.0\u00b19.3 \u00b5gml\u20131, respectively), and a lower apparent oral clearance (2.44 vs. 7.3 \u00b12.2 l h\u20131, respectively). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AG is associated with decreased metabolism of sulfasalazine in healthy individuals.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3161212","article_title":"Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency","article_path":"articles/PMC3161212.md","variant_annotation_id":827806085,"variant_haplotypes":"CYP3A7*1A, CYP3A7*1C","gene":"CYP3A7","drugs":"cortisone acetate","pmid":21915484,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"CYP3A7 *1C is associated with decreased dose of cortisone acetate in children with Adrenal Hyperplasia, Congenital as compared to CYP3A7 *1A.","alleles":"*1C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Adrenal Hyperplasia, Congenital","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1A","comparison_metabolizer_types":null} -{"pmcid":"PMC10982510","article_title":"The frequency of NUDT15 rs116855232 and its impact on mercaptopurine-induced toxicity in Syrian children with acute lymphoblastic leukemia","article_path":"articles/PMC10982510.md","variant_annotation_id":1452436900,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"mercaptopurine","pmid":38562167,"phenotype_category":"Dosage","significance":"yes","notes":"\"Therapeutic dose of 6-mercaptopurine during maintenance therapy according to NUDT15 rs116855232 genotype in 92 pediatric acute lymphoblastic leukemia cases. The median 6MP dose intensity was 5%, 54.69% and 100% for the genotypes TT (n=1), CT (n=5) and CC (n=86), respectively (P=0.009).\" Study also measured rs768324690, rs147390019, rs139551410, rs61973267 but these were monomorphic.","sentence":"Genotype TT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4628029","article_title":"CYP3A5 and ABCB1 genotype influence tacrolimus and sirolimus pharmacokinetics in renal transplant recipients","article_path":"articles/PMC4628029.md","variant_annotation_id":1447520859,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"sirolimus, tacrolimus","pmid":26543771,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No associations with tacrolimus or sirolimus pharmacokinetic parameters were seen for this SNP. Genotypes present were CC, CT, TT and A carriers. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with metabolism of sirolimus or tacrolimus in people with Kidney Transplantation as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144268,"variant_haplotypes":"rs1611255","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that this SNP is given the ID rs144373461 in the paper.","sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":1448634968,"variant_haplotypes":"rs7793837","gene":"CRHR2","drugs":"salbutamol, selective beta-2-adrenoreceptor agonists","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with decreased response to salbutamol and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767314,"variant_haplotypes":"rs3748631","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043600,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a patient reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with response to amlodipine in people with Hypertension as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5598801","article_title":"Effect of UDP-Glucuronosyltransferase (UGT) 1A Polymorphism (rs8330 and rs10929303) on Glucuronidation Status of Acetaminophen","article_path":"articles/PMC5598801.md","variant_annotation_id":1451342940,"variant_haplotypes":"rs8330","gene":"MROH2A, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9","drugs":"acetaminophen glucuronide","pmid":28932176,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Caution there is a possible strand issue with this C/G variant, authors describe variant as 2042C>G with C as major allele. Complemented here. Authors do not measure significance rather calculate the k value of concordance between genotype and speed of glucuronidation : homozygote reference = fast, heterozygote = intermediate and homozygote minor allele = slow.","sentence":"Genotype GG is associated with increased formation of acetaminophen glucuronide in healthy individuals as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"formation of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC6451710","article_title":"Impact of CYP3A4*22 on Pazopanib Pharmacokinetics in Cancer Patients","article_path":"articles/PMC6451710.md","variant_annotation_id":1451639920,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"pazopanib","pmid":30367352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented to plus chromosomal strand.","sentence":"Genotypes GT + TT is not associated with decreased clearance of pazopanib in people with Neoplasms as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104973,"variant_haplotypes":"rs3813929","gene":"HTR2C","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele T is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238783,"variant_haplotypes":"rs4925300","gene":"CDH4","drugs":"ziprasidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to ziprasidone in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983346,"variant_haplotypes":"rs521093","gene":null,"drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (T). Response considered to be successful with a 50% reduction at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele T is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2586993","article_title":"Polymorphisms and Clinical Outcome in Recurrent Ovarian Cancer Treated with Cyclophosphamide and Bevacizumab","article_path":"articles/PMC2586993.md","variant_annotation_id":827822867,"variant_haplotypes":"rs4073","gene":"CXCL8","drugs":"bevacizumab, cyclophosphamide","pmid":19010874,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AT are associated with decreased response to bevacizumab and cyclophosphamide in women with Ovarian Neoplasms as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Ovarian Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4746878","article_title":"A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers","article_path":"articles/PMC4746878.md","variant_annotation_id":1451352886,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"atorvastatin","pmid":26857559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes AA + AG are associated with decreased concentrations of atorvastatin in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114889,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CT genotype had a significantly increased AUC0-12 of lopinavir compared to the TT genotype in patients treated with lopinavir/ritonavir. Variant referred to in the paper as T512C.","sentence":"Genotype CT is associated with increased exposure to lopinavir in children with HIV Infections as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9552901","article_title":"NAMPT single-nucleotide polymorphism rs1319501 and visfatin/NAMPT affect nitric oxide\u00a0formation, sFlt-1 and antihypertensive therapy response in preeclampsia","article_path":"articles/PMC9552901.md","variant_annotation_id":1451454162,"variant_haplotypes":"rs1319501","gene":"NAMPT","drugs":"nitric oxide","pmid":33944612,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors state \"The TT genotype for the NAMPT SNP rs1319501 (T>C) was associated with higher nitrite concentrations in pregnant with PE nonresponsive to antihypertensive therapy.\"\" We found no significant effects of genotypes for the NAMPT SNPs on nitrite concentrations in HP or PE patients.\"","sentence":"Genotype TT is associated with increased concentrations of nitric oxide in women with Pre-Eclampsia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pre-Eclampsia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756047,"variant_haplotypes":"rs7314734","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2830598","article_title":"Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients","article_path":"articles/PMC2830598.md","variant_annotation_id":769166388,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":20078613,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with increased response to fluorouracil, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451106720,"variant_haplotypes":"rs1042714","gene":"ADRB2","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had a significantly greater decrease in heart rate than patients with the CG or GG genotypes. Note that this association was only significant in white patients.","sentence":"Genotype CC is associated with increased response to atenolol or metoprolol in people with Tachycardia as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3320544","article_title":"Effects of genetic variation in H3K79 methylation regulatory genes on clinical blood pressure and blood pressure response to hydrochlorothiazide","article_path":"articles/PMC3320544.md","variant_annotation_id":981238979,"variant_haplotypes":"rs2269879","gene":"DOT1L","drugs":"hydrochlorothiazide","pmid":22440088,"phenotype_category":"Efficacy","significance":"yes","notes":"In the PEAR cohort, in Whites: 5.5 mmHg greater mean systolic bp response(p = 0.0002 uncorrected) and a 3.5 mmHg greater mean diastolic bp response (p = 0.0016 uncorrected). [stat_test:linear regression]. More than 90% of participants were receiving 25 mg/day HCTZ (the rest received 12.5 mg/day). This did not replicate significantly in a second cohort(GERA) and authors concluded that there could possibly be an association between this SNP and blood pressure response to HCTZ in Caucasians, but that it requires further investigation. Significance for this segment of the study was set at p < 0.01 for a partially corrected p, and in Whites, this level was met when a partial correction for multiple testing was done. But for a compound, corrected p predetermined by the authors to be the significance point for both segments of the study, the significance test failed.","sentence":"Genotypes CT + TT are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973700,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"yes","notes":"*2 was significant in Co-dominat, Dominant, and Recessive models.","sentence":"CYP2C19 *2 is associated with increased resistance to clopidogrel in people with Coronary Disease as compared to CYP2C19 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4055378","article_title":"Prediction of Methotrexate Clinical Response in Portuguese Rheumatoid Arthritis Patients: Implication of MTHFR rs1801133 and ATIC rs4673993 Polymorphisms","article_path":"articles/PMC4055378.md","variant_annotation_id":1451258160,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":24967362,"phenotype_category":"Efficacy","significance":"yes","notes":"\"MTHFR 677TT ... associated with over 4-fold increased risk for nonresponse. \" Alleles complemented to plus chromosomal strand.","sentence":"Genotypes AG + GG is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4425056","article_title":"APOE Polymorphisms Contribute to Reduced Atorvastatin Response in Chilean Amerindian Subjects","article_path":"articles/PMC4425056.md","variant_annotation_id":1450973740,"variant_haplotypes":"rs429358","gene":"APOE","drugs":"atorvastatin","pmid":25860945,"phenotype_category":"Efficacy","significance":"yes","notes":"Effect reported for E3/E4 compared to E3/E3 (there were no E4/E4 subjects in cohort).","sentence":"Genotype CT is associated with decreased response to atorvastatin in people with Hypercholesterolemia as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4270923","article_title":"G Protein-Coupled Receptor Kinase 5 Gene Polymorphisms Are Associated with Postoperative Atrial Fibrillation Following Coronary Artery Bypass Graft Surgery in Patients Receiving Beta-Blockers","article_path":"articles/PMC4270923.md","variant_annotation_id":1451843560,"variant_haplotypes":"rs11198893","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":25049040,"phenotype_category":"Efficacy","significance":"yes","notes":"Single-nucleotide polymorphisms in 10 candidate genes were tested for association with atrial fibrillation after coronary artery bypass grafting despite perioperative beta blocker therapy.","sentence":"Allele A is associated with decreased response to Beta Blocking Agents in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8185249","article_title":"Genome-wide association study of letrozole plasma concentrations identifies non-exonic variants that may affect CYP2A6 metabolic activity","article_path":"articles/PMC8185249.md","variant_annotation_id":1451927928,"variant_haplotypes":"rs7937","gene":null,"drugs":"letrozole","pmid":34096894,"phenotype_category":null,"significance":"yes","notes":"rs7937 was associated with age- and BMI-adjusted letrozole levels even after adjusting for genotype-predicted CYP2A6 metabolic phenotype (P = 3.86 \u00d7 10\u221210). Median (interquartile range) letrozole concentration in patients with genotypes CC, CT and TT were 107.9 (48.5), 90.5 (46.4) and 73.2 (33.4)ng/ml.","sentence":"Allele C is associated with increased concentrations of letrozole in women with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11059713","article_title":"Therapeutic efficacy of generic artemether\u2013lumefantrine in the treatment of uncomplicated malaria in Ghana: assessing anti-malarial efficacy amidst pharmacogenetic variations","article_path":"articles/PMC11059713.md","variant_annotation_id":1452466280,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6","gene":"CYP3A5","drugs":"desbutyl lumefantrine","pmid":38685044,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Figure 5 shows the plasma lumefantrine and DBL for CYP3A5 expressor status. There were significant differences in plasma DBL concentrations on day 3 between *1/*1 versus *1/*6 (p\u2009=\u20090.002), *1/*3 versus *1/*6 (p\u2009=\u20090.006) and *1/*7 versus *1/*6 (p\u2009=\u20090.008). There was an observed significance on day 7 desbutyl plasma concentrations among *1/*6 and *1/*3 (p\u2009=\u20090.026) expressors.\"","sentence":"CYP3A5 *1/*3 is associated with decreased concentrations of desbutyl lumefantrine in people with Malaria, Falciparum as compared to CYP3A5 *1/*1 + *1/*6.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Malaria, Falciparum","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*6","comparison_metabolizer_types":null} -{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682452,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"yes","notes":"The favorable allele C of rs12979860 was significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1. The effect of rs12979860 on triple therapy-induced clearance in treatment-experienced patients is restricted to those who experienced prior PegIFN/RBV relapse.","sentence":"Allele C is associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864109,"variant_haplotypes":"rs1801058","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"yes","notes":"Note; there were no female TT (V486) homozygotes. Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotype CT is associated with decreased response to metoprolol in women with hypertensive nephrosclerosis as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679469,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"lansoprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in eradication rate of Helicobacter pylori (H. pylori) were seen between the two genotype groups.This was a meta-analysis and included 9 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.","sentence":"CYP2C19 *1/*2 + *1/*3 is not associated with response to lansoprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994381,"variant_haplotypes":"rs28399433","gene":"CYP2A6","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Allele also known as CYP2A6*9.","sentence":"Genotype AC is associated with increased concentrations of efavirenz in children with HIV Infections.","alleles":"AC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453073660,"variant_haplotypes":"rs2909451","gene":"DPP4","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Patients with the rs2909451 TT genotype in the study group (treated with sitagliptin) exhibited a median HbA1c improvement of 0.57 (interquartile range [IQR], 0.18\u20130.85), whereas the control group (treated with gliclazide) showed a median improvement of 1.11 (IQR, 0.86\u20131.35; P\u2005<\u2005.001).\"","sentence":"Genotype TT is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9891445","article_title":"Effects of genetic polymorphisms on methotrexate levels and toxicity in Chinese patients with acute lymphoblastic leukemia","article_path":"articles/PMC9891445.md","variant_annotation_id":1452009000,"variant_haplotypes":"rs2838958","gene":"SLC19A1","drugs":"methotrexate","pmid":36742186,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"at 24 hours.","sentence":"Genotypes AA + AG is associated with increased concentrations of methotrexate in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491275,"variant_haplotypes":"rs12522597","gene":"SV2C","drugs":"ziprasidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype GG is not associated with response to ziprasidone in people with Schizophrenia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574575,"variant_haplotypes":"rs12708954","gene":"SLC6A2","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"A lower AUC/DW and a higher CL/F were observed in the SLC6A2 rs12708954 C/C genotype compared to the C/A genotype (puv = 0.015 and puv = 0.016, respectively).\"","sentence":"Genotype CC is associated with increased clearance of mirabegron in healthy individuals as compared to genotype AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} -{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612434,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele G is not associated with clearance of talinolol in healthy individuals as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC9809306","article_title":"Exonuclease 1 genetic variant is associated with clinical outcomes of pemetrexed chemotherapy in lung adenocarcinoma","article_path":"articles/PMC9809306.md","variant_annotation_id":1451978280,"variant_haplotypes":"rs1047840","gene":"EXO1","drugs":"pemetrexed","pmid":36606188,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AG is associated with decreased clinical benefit to pemetrexed in people with Lung Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589820,"variant_haplotypes":"rs188009042","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC1884285","article_title":"A discordance between cytochrome P450 2D6 genotype and phenotype in patients undergoing methadone maintenance treatment","article_path":"articles/PMC1884285.md","variant_annotation_id":1452873623,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"dextromethorphan","pmid":12895196,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Multiple regression analysis indicated that CYP2D6*4 alleles and being female were associated with lower CYP2D6 activity as measured by the log (MR); (P < 0.001; r2 = 0.75).; Study only typed for CYP2D6*3, *4, and *6. Mix of genotyping and phenotyping with DEX/DOR MR (0.1 was used as the antimode separating NM and PM). 3 patients were *4/*4 (*3 and *6 were not detected); phenotyped *4/*4 subject had a MR of above 1 (fig1) . 16 out of the 28 phenotyped patients show a MR >0.1 and were classified as PM but did not align with genotype for the smaller subset that had genotype and phenotype data. Patients took methadone and other medications.","sentence":"CYP2D6 *4 is associated with decreased metabolism of dextromethorphan in women as compared to CYP2D6 *1.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862160,"variant_haplotypes":"rs737866","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs740603, rs6269, rs2239393, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele T is associated with decreased dose of morphine in people with Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2992873","article_title":"Genetic Variation of VKORC1 and CYP4F2 Genes Related to Warfarin Maintenance Dose in Patients with Myocardial Infarction","article_path":"articles/PMC2992873.md","variant_annotation_id":1450979020,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":21127708,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This is shown for *2/*2, *2/*3 and *2/*4 vs *3/*3, *3/*4 and *4/*4. Authors define *2 as VKORC1*2 (rs9934438/6484 C\u2009>\u2009T). Alleles complemented.","sentence":"Genotypes AA + AG is associated with decreased dose of warfarin in people with Myocardial Infarction as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Myocardial Infarction","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680778,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3608305","article_title":"Effect of eNOS polymorphisms on salbutamol evoked endothelium dependent vasodilation in South Indian healthy subjects","article_path":"articles/PMC3608305.md","variant_annotation_id":1183682080,"variant_haplotypes":"rs1799983","gene":"NOS3","drugs":"salbutamol","pmid":23543259,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in the change in digital volume pulse parameters - reflection index and stiffness index - before and after salbutamol administration were seen between the two genotype groups. This indicates that this SNP does not affect salbutamol-evoked endothelium-dependent vasodilation.","sentence":"Genotype GG is not associated with response to salbutamol in healthy individuals as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472455,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5","gene":"CYP2C9","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"yes","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"CYP2C9 *3 + *5 + *2 + *1 is associated with dose of warfarin.","alleles":"*3 + *5 + *2 + *1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4713720","article_title":"Population pharmacokinetics and pharmacogenetics of once daily tacrolimus formulation in stable liver transplant recipients","article_path":"articles/PMC4713720.md","variant_annotation_id":1447679054,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26521259,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The *1A/*1A + *1A/*3A genotypes were associated with a significantly higher apparent clearance as compared to the *3A/*3A genotype. This was true when analyzing the effect of the genotypes of liver donors, liver recipients, as well as when genotypes were combined.","sentence":"CYP3A5 *1/*1 + *1/*3 are associated with increased clearance of tacrolimus in people with liver transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3597465","article_title":"COMT Val158Met, BDNF Val66Met, and OPRM1 Asn40Asp and Methamphetamine Dependence Treatment Response: Preliminary Investigation","article_path":"articles/PMC3597465.md","variant_annotation_id":1450813969,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"modafinil","pmid":22217949,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and Treatment Effectiveness Scores following modafinil treatment compared to placebo in Non-Hispanic Caucasian subjects.","sentence":"Genotype GG is not associated with response to modafinil in people with methamphetamine dependence as compared to allele A.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Methamphetamine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511052,"variant_haplotypes":"rs4646437","gene":"CYP3A4","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of GG, AG and AA did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589745,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AG + GG are associated with increased dose of warfarin as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374180,"variant_haplotypes":"CYP2D6 poor and ultrarapid metabolizers","gene":"CYP2D6","drugs":"methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no significant association between CYP2D6 phenotype and cessation of opioid use.","sentence":"CYP2D6 poor metabolizer and ultrarapid metabolizer are not associated with response to methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4694426","article_title":"Relationships of related genetic polymorphisms and individualized medication of tacrolimus in patients with renal transplantation","article_path":"articles/PMC4694426.md","variant_annotation_id":1447946656,"variant_haplotypes":"CYP3A4*1, CYP3A4*18","gene":"CYP3A4","drugs":"tacrolimus","pmid":26770526,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A4*18B was negatively correlated with tacrolimus dose-adjusted trough concentrations (C/D). However, in the best multiple regression model, this allele no longer retained statistical significance. Factors that retained statistical significance were CYP3A5*3, hematocrit and albumin. PharmVar has consolidated CYP3A4*18B under CYP3A4*18 .001","sentence":"CYP3A4 *18 is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1.","alleles":"*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":1450821553,"variant_haplotypes":"rs11280056","gene":"TYMS","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":"Variant was originally mapped to TTAAAG allele of rs151264360, which has now been merged into rs11280056. This annotation replaces VA 827863352.","sentence":"Allele del is not associated with response to methotrexate in people with Arthritis, Rheumatoid.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407680,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele G is not associated with response to butorphanol in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10858860","article_title":"The effects of OPRM1 118A>G on methadone response in pain management in advanced cancer at end of life","article_path":"articles/PMC10858860.md","variant_annotation_id":1452386200,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":38341456,"phenotype_category":"Dosage","significance":"no","notes":"\"We did not find an association with methadone dose or pain scores for our study\"","sentence":"Genotypes AA + AG is not associated with increased dose of methadone in people with Neoplasms and Pain as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3433845","article_title":"Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success","article_path":"articles/PMC3433845.md","variant_annotation_id":827921971,"variant_haplotypes":"rs16969968","gene":"CHRNA3, CHRNA5","drugs":"Drugs used in nicotine dependence","pmid":22648373,"phenotype_category":"Other","significance":"yes","notes":"in haplotype analysis; individuals with haplotype 3 (rs16969968 allele A - rs680244 allele C) were more likely to respond to active treatment/ had a lower risk of relapse (remain abstinent from smoking cigarettes) than those with haplotype 3 that were treated with placebo. The odds of abstinence from cigarette smoking were not significantly different in individuals with haplotype 1 (rs16969968 allele G - rs680244 allele C) that underwent active treatment or placebo.","sentence":"Allele A is associated with increased response to Drugs used in nicotine dependence in people with Tobacco Use Disorder.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703603,"variant_haplotypes":"rs1050152","gene":"SLC22A4","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had a decreased likelihood of achieving major molecular response (MMR) within 12 months, as compared to those with the CC or CT genotype. MMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; MMR was a ratio <= 0.1%.","sentence":"Genotype TT is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930521,"variant_haplotypes":"rs7606603","gene":"XIRP2","drugs":"atenolol","pmid":29650764,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of atenolol in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699014,"variant_haplotypes":"rs1537416","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550220,"variant_haplotypes":"rs362719","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele A is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11850035","article_title":"Analgesic therapy failure in a COMT HPS/HPS diplotype carrier heterozygous for the CYP2D6 *4 allele with fibromyalgia\u2014a case report","article_path":"articles/PMC11850035.md","variant_annotation_id":1452865989,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"acetaminophen, duloxetine, ibuprofen, oxycodone, pregabalin","pmid":39995492,"phenotype_category":"Efficacy","significance":"no","notes":"\"40-year-old female patient was diagnosed with chronic lumbalgia and fibromyalgia\" \" insufficient pain relief\" \"COMT HPS/HPS diplotype carrier implicating lower COMT activity and higher pain sensitivity\" Genotypes from table 2: rs6269 AA, rs4633 CC, rs4818 CC, rs4680 GG and CYP2D6 *1/*4","sentence":"CYP2D6 *1/*4 (assigned as intermediate metabolizer phenotype) is associated with decreased clinical benefit to acetaminophen, duloxetine, ibuprofen, oxycodone and pregabalin in women with Fibromyalgia and Low Back Pain.","alleles":"*1/*4","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Other:Fibromyalgia, Other:Low Back Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647569,"variant_haplotypes":"rs6973474","gene":null,"drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele T is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046699,"variant_haplotypes":"rs1799808","gene":"PROC","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Patients with the CC genotype require significantly higher daily doses of phenprocoumon as compared to patients with the CT or TT genotype. While it seems that there may be a gene dose effect (CC>CT>TT), the paper did not specify whether or not this is the case. Daily dose is also negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is not associated with differences in phenprocoumon concentration.","sentence":"Genotype CC is associated with increased dose of phenprocoumon as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451115303,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association was significant in white patients only. Only 1/31 black patients and 1/17 Hispanic patients carried the C allele, so statistical analysis could not be carried out. However, the authors note that these patients had amongst the highest trough concentrations of lopinavir.","sentence":"Allele C is associated with increased trough concentration of lopinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811579,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotype AA is associated with increased dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919840,"variant_haplotypes":"rs368245720","gene":null,"drugs":"6-hydroxy s-warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"measured as increased S-6OH-warfarin and using a genome wide significance threshold of < 3.846 \u00d7 10\u22129. Effect direction from supplementary table S9. There were five SNPs in the same intergenic region on chromosome 10 with same p value (rs368245720, rs541817388, 10:107692518:AC:A, rs112552343, rs372488899).","sentence":"Allele A is associated with increased concentrations of 6-hydroxy s-warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5306492","article_title":"Polymorphisms in ABCB1 and CYP19A1 genes affect anastrozole plasma concentrations and clinical outcomes in postmenopausal breast cancer patients","article_path":"articles/PMC5306492.md","variant_annotation_id":1448614987,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"anastrozole","pmid":27747906,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles have been complemented to the positive strand.","sentence":"Genotype AA is associated with increased concentrations of anastrozole in women with Breast Neoplasms as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6647927","article_title":"Influence of (ATP)-Binding Cassette Transporter Subfamily B Member 1 (ABCB1) Gene Polymorphism on the Efficacy of Remifentanil","article_path":"articles/PMC6647927.md","variant_annotation_id":1451118680,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"remifentanil","pmid":31346154,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the GG genotype had significantly increased consumption of remifentanil during surgery than patients with the AA genotype.","sentence":"Genotype GG is associated with increased dose of remifentanil as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC10381361","article_title":"Pilot Study: Personalized Medicine in Endoscopy, Can Pharmacogenomics Predict Response to Conscious Sedation?","article_path":"articles/PMC10381361.md","variant_annotation_id":1452197225,"variant_haplotypes":"UGT1A1 poor metabolizer","gene":"UGT1A1","drugs":"fentanyl, meperidine, midazolam","pmid":37511720,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients were divided into two groups based on sedation requirements during endoscopy (high vs. normal sedation). The high sedation requirement group was defined by a sedation requirement of midazolam >10 mg, fentanyl >100 mcg, meperidine >100 mg, or an aborted procedure due to failed moderate sedation and/or the transition to propofol sedation to complete the procedure. The normal sedation requirement group was defined as the complete absence of the above conditions that define the high sedation requirement group.\" \"Patients with reduced CYP2C19 metabolism (poor + intermediate metabolizers) (OR = 0.38, 95% CI: 0.16\u20130.91, p = 0.03), poor CYP3A5 metabolism (OR = 0.25, 95% CI: 0.095\u20130.65, p = 0.0046), and poor UGT1A1 (OR = 2.76, 95% CI: 1.07\u20137.13, p = 0.08) had higher odds of requiring normal sedation compared to those with CYP2C19 increased metabolism, CYP3A5 intermediate metabolism, and UGT1A1 intermediate metabolism\"","sentence":"UGT1A1 poor metabolizer is associated with decreased dose of fentanyl, meperidine or midazolam in people with sedation as compared to UGT1A1 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:sedation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3872414","article_title":"Polymorphisms of MTHFR Associated with Higher Relapse/Death Ratio and Delayed Weekly MTX Administration in Pediatric Lymphoid Malignancies","article_path":"articles/PMC3872414.md","variant_annotation_id":1451506620,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"methotrexate","pmid":24386571,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in relapse-free survival between genotype groups.","sentence":"Allele C is not associated with response to methotrexate in children with Lymphoma, Non-Hodgkin or Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma, Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3667657","article_title":"Plasma Letrozole Concentrations in Postmenopausal Women With Breast Cancer Are Associated With CYP2A6 Genetic Variants, Body Mass Index, and Age","article_path":"articles/PMC3667657.md","variant_annotation_id":827864335,"variant_haplotypes":"CYP2A6*1, CYP2A6*26","gene":"CYP2A6","drugs":"letrozole","pmid":21975350,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP2A6*1/*26 is associated with normal metabolism of letrozole (compared to slow metabolism of nicotine).","sentence":"CYP2A6 *1/*26 is associated with metabolism of letrozole in women with Breast Neoplasms.","alleles":"*1/*26","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448497497,"variant_haplotypes":"rs162555","gene":"CYP1B1","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375663,"variant_haplotypes":"rs4659982","gene":"GREM2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele C is associated with increased response to allopurinol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453076020,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CYP2C9 gene polymorphisms also significantly influenced treatment efficacy. Patients with the rs1799853 TT genotype in the study group had a median HbA1c improvement of 0.70 (IQR, 0.69\u20130.72), while the control group showed 1.07 (IQR, 0.82\u20131.42; P\u2005<\u2005.001).\"","sentence":"Genotype TT is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636661,"variant_haplotypes":"rs11572080","gene":"CYP2C8","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4350512","article_title":"Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate","article_path":"articles/PMC4350512.md","variant_annotation_id":1184988646,"variant_haplotypes":"rs17035723","gene":"GLRB","drugs":"acamprosate","pmid":25290263,"phenotype_category":"Efficacy","significance":"no","notes":"Tag SNPs (518 total) were selected within genes associated with alcoholism as well as genes encoding enzymes involved in glycine metabolism, glycine transporters, subunits of glycine receptors, NMDA receptors, genes involved in glutamate reuptake, synthesis or degradation and genes with reported associations with acamprosate treatment outcomes in human or animal studies. The length of time to first alcohol use \u201csurvival analysis method\u201d was used to examine associations between clinical variables and genetic markers with efficacy of acomprasate (its ability to length the duration of abstinence from alcohol). The analyses were replicated in a subset of 110 participants from PREDICT, a double-blind randomized controlled trial that compared treatment outcomes including length of abstinence among alcohol- dependent subjects of German descent recruited from inpatient facilities and treated with acamprosate, naltrexone or placebo for 3 months. rs17035723 A allele was nominally associated with shorter abstinence after Bonferroni correction for the number of SNPs included in the analyses in the male only cohort (N=148) of the discovery sample (P = 9.8 \u00d7 10 - 5, corrected P = 0.0507).","sentence":"Allele T is not associated with response to acamprosate in people with Alcoholism as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5932771","article_title":"Optimal predictor for 6-mercaptopurine intolerance in Chinese children with acute lymphoblastic leukemia: NUDT15, TPMT, or ITPA genetic variants?","article_path":"articles/PMC5932771.md","variant_annotation_id":1449750266,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"mercaptopurine","pmid":29720126,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"as measured by 6-MP dose intensity, which is a measure dose adjustment due to toxicity calculated by the ratio of the prescribed 6-MP dose over the protocol dose of 50 mg/m2/d. TT had lowest intensity, heterozygotes had intermediate intensity and CC highest intensity.","sentence":"Allele T is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438543,"variant_haplotypes":"rs2297595","gene":"DPYD","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677275,"variant_haplotypes":"rs10046","gene":"CYP19A1","drugs":"hdl cholesterol","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole and lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in HDL-cholesterol of 6.2 mg/dL (SE 1.6).","sentence":"Allele G is associated with decreased concentrations of hdl cholesterol in women with Breast Neoplasms and Menopause as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930637,"variant_haplotypes":"rs680244","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The T allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8890732","article_title":"Effects of cytochrome P450 2B6 and constitutive androstane receptor genetic variation on Efavirenz plasma concentrations among HIV patients in Kenya","article_path":"articles/PMC8890732.md","variant_annotation_id":1451707346,"variant_haplotypes":"rs8192719","gene":"CYP2B6","drugs":"efavirenz","pmid":35235559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Described as 21563C>T","sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699046,"variant_haplotypes":"rs10776845","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4690185","article_title":"First-line eradication for Helicobacter pylori-positive gastritis by esomeprazole-based triple therapy is influenced by CYP2C19 genotype","article_path":"articles/PMC4690185.md","variant_annotation_id":1448532221,"variant_haplotypes":"CYP2C19 normal metabolizer genotype","gene":"CYP2C19","drugs":"amoxicillin, clarithromycin, esomeprazole","pmid":26730167,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients tested positive for h. pylori and were treated with 400 mg/d EPZ, 1500 mg/d AMPC, and 400 mg/d CAM for 7 days. All drugs were given twice per day.","sentence":"CYP2C19 normal metabolizer is associated with decreased response to amoxicillin, clarithromycin and esomeprazole in people with Gastritis as compared to CYP2C19 intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gastritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} -{"pmcid":"PMC11809887","article_title":"PCK1 and SLC22A2 gene variants associated with response to metformin treatment in type 2 diabetes","article_path":"articles/PMC11809887.md","variant_annotation_id":1452849180,"variant_haplotypes":"rs4810083","gene":"PCK1","drugs":"metformin","pmid":39928707,"phenotype_category":"Efficacy","significance":"yes","notes":"\"NRs were predominantly homozygous for the alternative allele (55.0%). In comparison, in responders, only 18.0% were homozygous for the alternative allele. Thus, individuals that are homozygous carriers of the PCK1-rs4810083 alternative allele have 5.6 times more risk of being NRs to metformin than the 2 other genotype\u2019s carriers (recessive model: OR =\u2009 5.56, IC 95% [1.86\u201316.63]).\"","sentence":"Genotypes CT + TT is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3575609","article_title":"Polymorphism of \u03bc-Opioid Receptor Gene (OPRM1:c.118A>G) Might Not Protect against or Enhance Morphine-Induced Nausea or Vomiting","article_path":"articles/PMC3575609.md","variant_annotation_id":1449188786,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":23431434,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of morphine in women with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC8672325","article_title":"Adverse Cardiovascular Outcomes and Antihypertensive Treatment: A Genome-Wide Interaction Meta-Analysis in the International Consortium for Antihypertensive Pharmacogenomics Studies","article_path":"articles/PMC8672325.md","variant_annotation_id":1451506720,"variant_haplotypes":"rs139945292","gene":null,"drugs":"Beta Blocking Agents","pmid":34231218,"phenotype_category":"Efficacy","significance":"yes","notes":"The T-allele of this variant was associated with less BP reduction (systolic BP response P = 6 \u00d7 10\u22124, Beta = 3.09, diastolic BP response P = 5 \u00d7 10\u22123, Beta = 1.53) after treatment with \u03b2-blockers.","sentence":"Allele T is associated with decreased response to Beta Blocking Agents in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5619051","article_title":"Influence of common and rare genetic variation on warfarin dose among African\u2013Americans and European\u2013Americans using the exome array","article_path":"articles/PMC5619051.md","variant_annotation_id":1448636895,"variant_haplotypes":"rs12772169","gene":null,"drugs":"warfarin","pmid":28686080,"phenotype_category":"Dosage","significance":"yes","notes":"in patients initiating warfarin treatment with a target international normalized ratio (INR) of 2 to 3. Direction of the relationship of allele to dose is not explicitly stated. Table 4 lists minor allele as A, dbSNP lists as C/T with T as minor allele.","sentence":"Allele T is associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032504,"variant_haplotypes":"rs4877900","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant after permutation analysis based on 40,000 replicates, and not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rs4358872, rs1948308, and rs2378676 (r^2>0.7).","sentence":"Genotype CC is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2792638","article_title":"Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial","article_path":"articles/PMC2792638.md","variant_annotation_id":982048083,"variant_haplotypes":"rs4363","gene":"ACE","drugs":"ramipril","pmid":17885551,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was also reported as ACE G20037A. No association was seen between this SNP and time to target blood pressure.","sentence":"Genotypes AA + AG are not associated with increased response to ramipril in people with Hypertension as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981728486,"variant_haplotypes":"rs4149601","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"yes","notes":"AG and GG patients had significantly greater reduction in Systolic and in Diastolic Blood pressure than those with AA genotype. As this association was tested as a replication attempt, p was not adjusted for multiple testing as it was for the other SNPs in this study.; A significant association was also seen between the haplotype rs4149601G/rs292449C and greater response to hydrachlorothiazide in Whites.","sentence":"Genotypes AG + GG are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622300,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in area under the concentration-time curve (AUC) for rabeprazole were seen between the two genotype groups. Subjects were given rabeprazole for 8 days; AUC was measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 and *3 alleles were referred to by their previous designations (CYP2C19*m1 and *m2, respectively).","sentence":"CYP2C19 *1/*2 + *1/*3 is not associated with metabolism of rabeprazole in healthy individuals as compared to CYP2C19 *2/*2.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC4737107","article_title":"Thiopurine dose intensity and treatment outcome in childhood lymphoblastic leukaemia: the influence of thiopurine methyltransferase pharmacogenetics","article_path":"articles/PMC4737107.md","variant_annotation_id":1356539101,"variant_haplotypes":"TPMT*1, TPMT*3C","gene":"TPMT","drugs":"mercaptopurine, thioguanine","pmid":25441457,"phenotype_category":"Dosage","significance":"yes","notes":"As compared to those with the wild-type genotype (*1/*1), those patients with the *1/*3C genotype had a lower average dose (72.5% vs 78.0%, where dose given as the % of standard protocol dose).","sentence":"TPMT *1/*3C is associated with decreased dose of mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*3C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5903579","article_title":"Genome-wide and candidate gene approaches of clopidogrel efficacy using pharmacodynamic and clinical endpoints - Rationale and design of the International Clopidogrel Pharmacogenomics Consortium (ICPC)","article_path":"articles/PMC5903579.md","variant_annotation_id":1449296254,"variant_haplotypes":"CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":29653637,"phenotype_category":"Efficacy","significance":"yes","notes":"Validation of ICPC central database. CYP2C19*2 was associated with increased on-treatment platelet reactivity.","sentence":"CYP2C19 *2 is associated with decreased response to clopidogrel.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9328121","article_title":"Analysis of Genetic and Clinical Factors Associated with Buprenorphine Response","article_path":"articles/PMC9328121.md","variant_annotation_id":1451647580,"variant_haplotypes":"rs62368105","gene":null,"drugs":"buprenorphine","pmid":34488071,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors note that this association is nominally significant.","sentence":"Allele G is associated with increased response to buprenorphine in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7718230","article_title":"Association of clozapine-related metabolic disturbances with CYP3A4 expression in patients with schizophrenia","article_path":"articles/PMC7718230.md","variant_annotation_id":1451684740,"variant_haplotypes":"CYP1A2 low activity","gene":"CYP1A2","drugs":"n-desmethylclozapine","pmid":33277605,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"comapring n-desemethylclozapine in patients\u2019 peripheral leukocytes with low and normal/high CYP1A2 expression where all had normal/high CYP3A4 expression. AUthors describe \"further contribution of CYP1A2 to norclozapine production was also demonstrated\". Authors did genotype for some CYP1A2 and CYP3A4/5 alleles but these \"alleles did not explain the inter-individual differences in CYP3A4 mRNA levels\" and \"hepatic CYP1A2 and CYP3A4 activities were therefore estimated from mRNA levels in patients\u2019 leukocytes, categorizing the patients into low, normal and high expresser groups\"","sentence":"CYP1A2 low activity is associated with decreased concentrations of n-desmethylclozapine in people with Schizophrenia as compared to CYP1A2 high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} -{"pmcid":"PMC3049596","article_title":"Phase II study of S-1 combined with oxaliplatin as therapy for patients with metastatic biliary tract cancer: influence of the CYP2A6 polymorphism on pharmacokinetics and clinical activity","article_path":"articles/PMC3049596.md","variant_annotation_id":827698683,"variant_haplotypes":"CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9, CYP2A6*10","gene":"CYP2A6","drugs":"tegafur","pmid":21326246,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"*1/*1 carriers had a metabolic ratio of fluorouracil/tegafur around 1.85-fold higher compared to carriers of *4, *7, *9 and *10 alleles.","sentence":"CYP2A6 *1/*1 is associated with increased metabolism of tegafur in people with biliary tract neoplasms as compared to CYP2A6 *1/*10 + *1/*4 + *1/*7 + *1/*9 + *4/*9 + *7/*10 + *7/*9 + *9/*9.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Biliary tract neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*10 + *1/*4 + *1/*7 + *1/*9 + *4/*9 + *7/*10 + *7/*9 + *9/*9","comparison_metabolizer_types":null} -{"pmcid":"PMC7377539","article_title":"Impact of Polymorphism of CYP2D6 on Equilibrium Concentration of Duloxetine in Patients Suffering from Major Depressive Disorder","article_path":"articles/PMC7377539.md","variant_annotation_id":1451664620,"variant_haplotypes":"rs3892097","gene":"CYP2D6","drugs":"duloxetine","pmid":32733111,"phenotype_category":"Efficacy","significance":"yes","notes":"CC had greater decreases in score on HAMD after 8 weeks. Alleles complemented. No TT were observed.","sentence":"Genotype CC is associated with increased clinical benefit to duloxetine in men with Alcoholism and Depressive Disorder as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Alcohol abuse, Other:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821812,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CC + CT are not associated with concentrations of lopinavir in children with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4746878","article_title":"A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers","article_path":"articles/PMC4746878.md","variant_annotation_id":1451352900,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"atorvastatin","pmid":26857559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes AA + AG are associated with increased concentrations of atorvastatin in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5138058","article_title":"Role of rs3846662 and HMGCR alternative splicing in statin efficacy and baseline lipid levels in familial hypercholesterolemia","article_path":"articles/PMC5138058.md","variant_annotation_id":1446907782,"variant_haplotypes":"rs3846662","gene":"HMGCR","drugs":"hmg coa reductase inhibitors","pmid":26466344,"phenotype_category":"Efficacy","significance":"yes","notes":"The percentage reduction in LDL-cholesterol upon statin treatment was significantly decreased in women with the AA genotype","sentence":"Genotype AA is associated with decreased response to hmg coa reductase inhibitors in women with familial hypercholesterolemia as compared to allele G.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Familial hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2743299","article_title":"GENE AND GENE BY SEX ASSOCIATIONS WITH INITIAL SENSITIVITY TO NICOTINE IN NONSMOKERS","article_path":"articles/PMC2743299.md","variant_annotation_id":1450812289,"variant_haplotypes":"rs6277","gene":"DRD2","drugs":"nicotine","pmid":18690117,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and nicotine reward, perception, mood or reinforcement or physiological responses to nicotine.","sentence":"Allele A is not associated with response to nicotine in women as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501834,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by a lower carbamazepine-10-11 epoxide:carbamazepine metabolite ratio. This association was only significant in male patients.","sentence":"Genotypes CT + TT are associated with decreased metabolism of carbamazepine in men with Epilepsy as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448432529,"variant_haplotypes":"rs12720066","gene":"ABCB1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AC + CC are associated with decreased exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995822,"variant_haplotypes":"rs17577","gene":"MMP9","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":"Listed as rs2274756 in paper.","sentence":"Allele A is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511076,"variant_haplotypes":"rs1523130","gene":"NR1I2","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of CC, CT and TT did not influence donepezil clearance in a covariate model.","sentence":"Genotype CC is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3584248","article_title":"CYP2D6 genotypes, endoxifen levels, and disease recurrence in 224 Filipino and Vietnamese women receiving adjuvant tamoxifen for operable breast cancer","article_path":"articles/PMC3584248.md","variant_annotation_id":1444930474,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, N-desmethyltamoxifen, tamoxifen","pmid":23476897,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No information on menopausal status or if tamoxifen only treatment. No co-treatment with CYP2D6 inhibitors CYP2D6 alleles *2, *3, *4, *5, *6, *10, and *41 are genotyped with predeveloped TaqMan Genotyping Assays. Genotypes were categorized as normal (fully functional CYP2D6 alleles: *1 and *2 -*1/*1, *1/*2, *2/*2), intermediate (alleles associated with reduced enzyme activity: heterozygous for *10 and *41-*1/*10, *2/*10, *1/*41), and slow (homozygous for *10, *41 variants and one or more non-functional null alleles: *3-*6-*10/*10, *10/*41, *1/*5, *2/*5, *5/*10). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: leukocytes] [HWE: Vietnamese *1, 2, 4, 5, 10, 41 yes Filipino *1 and *2 no rest yes]","sentence":"CYP2D6 *10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10 are not associated with decreased concentrations of 4-hydroxytamoxifen, n-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*2 + *2/*2.","alleles":"*10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC6033076","article_title":"Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics","article_path":"articles/PMC6033076.md","variant_annotation_id":1449576511,"variant_haplotypes":"UGT1A3*1, UGT1A3*2","gene":"UGT1A3","drugs":"montelukast","pmid":28940478,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The UGT1A3*2 is associated with reduced area under the plasma concentration-time curve (AUC) of montelukast (17% reduction per copy of each allele, P=2.99 \u00d7 10-10). This allele is strongly associated with increased UGT1A3 expression in vitro.","sentence":"UGT1A3 *2 is associated with decreased concentrations of montelukast in healthy individuals as compared to UGT1A3 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934476,"variant_haplotypes":"rs398123223","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the G allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Leu300Pro in the paper.","sentence":"Allele G is associated with increased response to migalastat in people with Fabry Disease.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359640,"variant_haplotypes":"rs129915","gene":"DBH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9841299","article_title":"Impact of NFIB and CYP1A variants on clozapine serum concentration\u2014A retrospective naturalistic cohort study on 526 patients with known smoking habits","article_path":"articles/PMC9841299.md","variant_annotation_id":1451893986,"variant_haplotypes":"rs28379954","gene":"NFIB","drugs":"clozapine","pmid":36152308,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes","sentence":"Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472404,"variant_haplotypes":"rs2189784","gene":"CYP4F2","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3180021","article_title":"IL28B polymorphisms associated with therapy response in Chilean chronic hepatitis C patients","article_path":"articles/PMC3180021.md","variant_annotation_id":1444705817,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, ribavirin","pmid":21987611,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes GT + TT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2364770","article_title":"UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer","article_path":"articles/PMC2364770.md","variant_annotation_id":1451206460,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":15280927,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical response - when a patient had either a complete or a partial remission.","sentence":"UGT1A1 *1/*28 + *28/*28 are not associated with response to irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180302,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele and G allele are reported in the paper as the Val allele and Met allele respectively.","sentence":"Genotype GG is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863348,"variant_haplotypes":"rs45445694","gene":"C18orf56, TYMS","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype (CCGCGCCACTTCGCCTGCCTCCGTCCCG)3 is not associated with response to methotrexate in people with Arthritis, Rheumatoid.","alleles":"(CCGCGCCACTTCGCCTGCCTCCGTCCCG)3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407800,"variant_haplotypes":"rs702764","gene":"OPRK1","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Nominally significant difference in heat pain threshold between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotype CC is associated with increased response to butorphanol in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4115247","article_title":"GENETIC VARIATION IN CYP4A11 AND BLOOD PRESSURE RESPONSE TO MINERALOCORTICOID RECEPTOR ANTAGONISM OR ENAC INHIBITION: AN EXPLORATORY PILOT STUDY IN AFRICAN AMERICANS","article_path":"articles/PMC4115247.md","variant_annotation_id":1450821075,"variant_haplotypes":"rs1126742","gene":"CYP4A11","drugs":"amiloride, spironolactone","pmid":25064769,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. An expected increase in aldosterone levels in response to treatment was not seen in patients with the GG genotype. This variant was in complete disequilibrium with rs3890011.","sentence":"Genotype GG is associated with decreased response to amiloride or spironolactone in people with Hypertension as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703560,"variant_haplotypes":"rs1050152","gene":"SLC22A4","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving major cytogenetic response (MCgR) within 12 months. MCgR was defined as achieving either a complete or partial cytogenetic response (CCgR; PCgR). Cytogenetic response was based on bone marrow assessment, where CCgR was 0% Ph+ cells, and PCgR was >0 to 35% Ph+ cells.","sentence":"Genotype TT is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271224,"variant_haplotypes":"CYP3A4 poor metabolizers and intermediate metabolizers","gene":"CYP3A4","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP3A4 *1, *13, *15A and *22 alleles and then assigned metabolizer phenotypes.","sentence":"CYP3A4 intermediate metabolizer and poor metabolizer is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP3A4 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767276,"variant_haplotypes":"rs3002142","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4613221","article_title":"SLCO1B1 c.388A>G Polymorphism Is Associated with HDL-C Levels in Response to Atorvastatin in Chilean Individuals","article_path":"articles/PMC4613221.md","variant_annotation_id":1446896334,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"atorvastatin","pmid":26334272,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in percent change between the genotypes for total cholesterol (p=0.58), high-density lipoprotein cholesterol (HDL-C; p=0.15), low-density lipoprotein cholesterol (LDL-C; p=0.34) or triglycerides (p=0.92). Patients were treated with atorvastatin for 4 weeks at 10 mg/day.","sentence":"Genotypes CC + CT is not associated with response to atorvastatin in people with Hypercholesterolemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3749570","article_title":"VEGF-A polymorphisms predict progression-free survival among advanced castration-resistant prostate cancer patients treated with metronomic cyclophosphamide","article_path":"articles/PMC3749570.md","variant_annotation_id":1183699169,"variant_haplotypes":"rs3025039","gene":"VEGFA","drugs":"cyclophosphamide","pmid":23860526,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference genotype frequencies were seen between patients who were responders to chemotherapy, and those who were non-responders. Patients with advanced prostate cancer undergoing metronomic chemotherapy. Responders were classified as patients who had a decrease in prostrate-specific antigen (PSA) of >= 50% and a PSA stabilization of >= 6 months. Patients also received celecoxib and dexamethasone, and some patients received docetaxel-, mitoxantrone-, and vinorelbine-based chemotherapeutic regimens.","sentence":"Genotype TT is not associated with response to cyclophosphamide in people with Prostatic Neoplasms as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10838100","article_title":"Association of HTR1A Gene Polymorphisms with Efficacy and Plasma Concentrations of Atypical Antipsychotics in the Treatment of Male Patients with Schizophrenia","article_path":"articles/PMC10838100.md","variant_annotation_id":1452378440,"variant_haplotypes":"rs10042486","gene":"HTR1A","drugs":"quetiapine","pmid":38312123,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Plasma concentrations of the TT genotype at rs10042486 locus were significantly higher than those of the CT genotype at postrandomized week 6 (t = 3.126, P = 0.005).\"","sentence":"Genotype TT is associated with increased concentrations of quetiapine in men with Schizophrenia as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC7616417","article_title":"Prenatal efavirenz exposure is independently associated with maternal, but not fetal CYP2B6 genotype","article_path":"articles/PMC7616417.md","variant_annotation_id":1452517924,"variant_haplotypes":"CYP2B6 poor metabolizer","gene":"CYP2B6","drugs":"efavirenz","pmid":38934229,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Efavirenz newborn concentration varies based on both CYP2B6 516 G>T (rs3745274) and CYP2B6 983 T>C (rs28399499) newborn genotype (Table 3). The median (IQR) efavirenz DBS concentration in newborn stratified as fast (CYP2B6 516 GG, n\u2005=\u200525), intermediate (CYP2B6 516 GT, n\u2005=\u200536), and slow metabolizers (CYP2B6 516 TT, n\u2005=\u200519). 17.4\u2005h after maternal dose were 999.7\u2005ng/ml (744\u20131285), 1240\u2005ng/ml (709\u20131984), and 1792\u2005ng/ml (1201\u20133188), respectively. Similarly, newborn efavirenz DBS concentration varied based on maternal CYP2B6 genotypes: fast metabolizers (n\u2005=\u200526), 747\u2005ng/ml (602\u20131060); intermediate metabolizers (n\u2005=\u200550), 1177 (898\u20131765); and slow metabolizers (n\u2005=\u200514), 3094 (2126 3812). Additionally, we observed a genotype effect on efavirenz concentrations in newborns when stratified by CYP2B6 genotype within each maternal reference group (fast, intermediate, and slow). Newborns with a slow metabolizer status, born to mothers with intermediate or slow metabolizer statuses, had higher efavirenz plasma exposure.\"","sentence":"CYP2B6 poor metabolizer is associated with increased exposure to efavirenz in infants as compared to CYP2B6 normal metabolizer and intermediate metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in infants","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC11435314","article_title":"An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers","article_path":"articles/PMC11435314.md","variant_annotation_id":1452616400,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer","gene":"CYP2D6","drugs":"fesoterodine","pmid":39338398,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Lastly, Cl/F was significantly higher in the CYP2D6 UMs compared to the NMs and IMs/PMs (puv = 0.008 and puv < 0.001, respectively; \u03b2 = \u22120.131, R2 =0.409, pmv = 0.001) and lower in the CYP2D6 IMs/PMs compared to the NMs (puv = 0.005) (Table 3).\" The 21 SNPs for CYP2D6 measured are listed in table 5 and methods states that \"deletion (*5), duplication, and the presence of hybrid structures were analyzed\".","sentence":"CYP2D6 ultrarapid metabolizer is associated with increased clearance of fesoterodine in healthy individuals as compared to CYP2D6 normal metabolizer and intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer and poor metabolizer"} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373183,"variant_haplotypes":"rs2236257","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864080,"variant_haplotypes":"rs2960306","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"yes","notes":"in cox regression analysis when examining the rs1024323 genotype (variant interaction analysis - no association was found examining this variant on its own). Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotypes GT + TT are associated with decreased response to metoprolol in men with hypertensive nephrosclerosis.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4012056","article_title":"Determination of the Most Influential Sources of Variability in Tacrolimus Trough Blood Concentrations in Adult Liver Transplant Recipients: A Bottom-Up Approach","article_path":"articles/PMC4012056.md","variant_annotation_id":1184470927,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":24526611,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There was a significant difference in the mean apparent clearance between the three different genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG is associated with increased clearance of tacrolimus in people with liver transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4615595","article_title":"Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response","article_path":"articles/PMC4615595.md","variant_annotation_id":982044416,"variant_haplotypes":"rs3091244","gene":"CRP","drugs":"fenofibrate","pmid":18285551,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG, GA and GT genotypes had a greater reduction in C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, as compared to those with the AA and AT genotypes. In strong linkage disequilibrium with rs1205 and rs1417938 (r2 = 0.4 - 0.9, p < 0.001) and rs3093059 (r2 = 0.935, p < 0.001).","sentence":"Genotypes GG + GT are associated with increased response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AA + AT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metabolic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715954,"variant_haplotypes":"rs7583431","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"yes","notes":"Increased copy number of the A allele correlated with an increase in the analgesic effect of fentanyl.","sentence":"Allele A is associated with increased response to fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11221861","article_title":"ABCG2 polymorphism and rivaroxaban pharmacokinetics in healthy individuals after a single dose","article_path":"articles/PMC11221861.md","variant_annotation_id":1452523920,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"rivaroxaban","pmid":38958362,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"In our dataset, individuals with the ABCG2 421 A/A genotype had considerably higher average values of Vd/F (508.27\u00b172.79 L; P=0.001) and t1/2 (41.04\u00b123.73 h; P=0.000) compared to those with the other genotypes, 421 C/A and 421 C/C, with no statistically significant difference between means.\" \"Individuals carrying two mutant alleles in the ABCG2 SNP tended to have lower AUC, Cmax, and Cl/F (as shown in Table 4) compared to carriers of the wild-type genotype. However, it is essential to note that these differences did not achieve statistical significance (P>0.05).\" This was reported for the fasting group which had 2 TT individuals, the fed group had no TT individuals.","sentence":"Genotype TT is associated with increased half-life time of rivaroxaban in healthy individuals as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3760447","article_title":"CYP2C19 polymorphisms in the Thai population and the clinical response to clopidogrel in patients with atherothrombotic-risk factors","article_path":"articles/PMC3760447.md","variant_annotation_id":1183681642,"variant_haplotypes":"CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":24019752,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *2/*2, *2/*3 or *3/*3 genotype had a greater likelihood of being a non-responder to clopidogrel (a platelet inhibition percentage of < 10% pre- and post-treatment) than a responder (a platelet inhibition percentage of >= 10% pre- and post-treatment).","sentence":"CYP2C19 *2/*2 + *2/*3 + *3/*3 is associated with decreased response to clopidogrel in people with Cardiovascular Diseases.","alleles":"*2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433596,"variant_haplotypes":"rs1045895","gene":"LEPR, LEPROT","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment. \"Apart from the allelic association, SNP rs1045895 also shows association with the response under the dominant model of inheritance\"","sentence":"Genotypes AA + AG is associated with decreased clinical benefit to apremilast in people with Psoriasis as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310581,"variant_haplotypes":"rs17868323","gene":"UGT1A7","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele G is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896014,"variant_haplotypes":"rs10512361","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767362,"variant_haplotypes":"rs1053316","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359571,"variant_haplotypes":"rs3842727","gene":"TH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3774043","article_title":"Intestinal CYP3A4 and Midazolam Disposition in vivo Associate with VDR Polymorphisms and Show Seasonal Variation","article_path":"articles/PMC3774043.md","variant_annotation_id":981505339,"variant_haplotypes":"rs4516035","gene":"VDR","drugs":"midazolam","pmid":22484315,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"TT > TC > CC.","sentence":"Allele T is associated with increased clearance of midazolam as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3690108","article_title":"Correlation of aldo-ketoreductase (AKR) 1C3 genetic variant with doxorubicin pharmacodynamics in Asian breast cancer patients","article_path":"articles/PMC3690108.md","variant_annotation_id":1451608120,"variant_haplotypes":"rs1937840","gene":"AKR1C3","drugs":"docetaxel, doxorubicin","pmid":23116553,"phenotype_category":"Efficacy","significance":"yes","notes":"GG genotype was associated with increases in both overall survival and progression-free survival. IMPORTANT NOTE: Multiple correction was NOT conducted in this study (Many different time points, many different measurement/calculations and 7 different SNPs were analyzed)","sentence":"Genotype GG is associated with increased response to docetaxel and doxorubicin in women with Breast Neoplasms as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC6786370","article_title":"Influences of an NR1I2 polymorphism on heterogeneous antiplatelet reactivity responses to clopidogrel and clinical outcomes in acute ischemic stroke patients","article_path":"articles/PMC6786370.md","variant_annotation_id":1450129827,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"clopidogrel","pmid":30487649,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is associated with decreased H4 concentration, and decreased antiplatelet effects of clopidogrel with a higher PRU.","sentence":"Genotypes AA + AG is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4220988","article_title":"Impact of the Superoxide Dismutase 2 Val16Ala Polymorphism on the Relationship between Valproic Acid Exposure and Elevation of \u03b3-Glutamyltransferase in Patients with Epilepsy: A Population Pharmacokinetic-Pharmacodynamic Analysis","article_path":"articles/PMC4220988.md","variant_annotation_id":1444608497,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"valproic acid","pmid":25372290,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Clearance here refers to apparent oral clearance as assayed by serum concentration of valproic acid (VPA) (micrograms/ml). The authors used NONEM to assess serum concentration of VPA.","sentence":"CYP2C19 *2 + *3 are not associated with clearance of valproic acid in people with Epilepsy as compared to CYP2C19 *1.","alleles":"*2 + *3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767309,"variant_haplotypes":"rs3008607","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5531276","article_title":"Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy","article_path":"articles/PMC5531276.md","variant_annotation_id":981478575,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"Photodynamic therapy","pmid":18292785,"phenotype_category":"Efficacy","significance":"no","notes":"While there was no significant association between genotype and response to PDT, there was a trend between visual acuity post treatment and genotype. Visual acuity post-PDT declined 1.0 line for the TT genotype, 2.1 lines for the GT genotype and 4.1 lines for the GG genotype. This is interesting because, while it is not statistically significant (P=0.08), the allele that puts patients at higher risk of developing age-related macular degeneration (allele T) seems to also confer a better treatment outcome.","sentence":"Genotypes GG + GT are not associated with response to photodynamic therapy in people with Macular Degeneration as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356757,"variant_haplotypes":"rs1800896","gene":"IL10","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161400,"variant_haplotypes":"CYP2B6*1, CYP2B6*4, CYP2B6*6","gene":"CYP2B6","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype or phenotype frequencies between responders and non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for, however the authors state that genotyping of *1/*6 individuals did not exclude the possibility of them actually being *4/*9.","sentence":"CYP2B6 *1/*4 + *1/*6 + *4/*6 + *6/*6 are not associated with response to methadone in people with Opioid-Related Disorders as compared to CYP2B6 *1/*1.","alleles":"*1/*4 + *1/*6 + *4/*6 + *6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5382092","article_title":"Variation in CYP2A6 and nicotine metabolism among two American Indian tribal groups differing in smoking patterns and risk for tobacco-related cancer","article_path":"articles/PMC5382092.md","variant_annotation_id":1448601760,"variant_haplotypes":"CYP2A6*1, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":28181923,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Study was among smokers. Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar.","sentence":"CYP2A6 *46/*46 is associated with increased metabolism of nicotine in healthy individuals as compared to CYP2A6 *1/*1.","alleles":"*46/*46","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165120,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele T is associated with increased exposure to metformin in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6400024","article_title":"Effect of Multidrug-Resistant 1 (MDR1) and CYP3A4*1B Polymorphisms on Cyclosporine-Based Immunosuppressive Therapy in Renal Transplant Patients","article_path":"articles/PMC6400024.md","variant_annotation_id":1451440801,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"cyclosporine","pmid":30799432,"phenotype_category":"Dosage","significance":"no","notes":"Patients with the *1/*1 genotype had lower mean cyclosporine A doses than patients with the *1/*1B genotype. Mapped *1B to rs2740574 C and *1A to rs2740574 T based on PharmVAR consolidation of core alleles. However, this was not a significant association.","sentence":"Genotype TT is associated with decreased dose of cyclosporine in people with Kidney Transplantation as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3401172","article_title":"An Acenocoumarol Dosing Algorithm Using Clinical and Pharmacogenetic Data in Spanish Patients with Thromboembolic Disease","article_path":"articles/PMC3401172.md","variant_annotation_id":1448259324,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"acenocoumarol","pmid":22911785,"phenotype_category":"Dosage","significance":"yes","notes":"This variant was significantly associated with acenocoumarol dose, and explained 22% of the variability in dose. Clinical variables (Age, BMI, Enzyme inducers status and Amiodarone status) explained 22% of the variability in dose. This study developed an algorithm for acenocoumarol dosing using clinical and pharmacogenetic data.","sentence":"Allele T is associated with dose of acenocoumarol.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3873034","article_title":"Genome-wide association study identifies a potent locus associated with human opioid sensitivity","article_path":"articles/PMC3873034.md","variant_annotation_id":1451747900,"variant_haplotypes":"rs2952768","gene":null,"drugs":"opioids","pmid":23183491,"phenotype_category":"Efficacy","significance":"yes","notes":"The C/C genotype of this SNP was also significantly associated with the elevated expression of a neighboring gene, CREB1.","sentence":"Genotype CC is associated with decreased response to opioids in people with Pain, Postoperative as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4867099","article_title":"Pharmacogenetics of unboosted atazanavir in HIV-infected individuals in resource-limited settings: a sub-study of the AIDS Clinical Trials Group (ACTG) PEARLS study (NWCS 342)","article_path":"articles/PMC4867099.md","variant_annotation_id":1447947686,"variant_haplotypes":"rs1523130","gene":"NR1I2","drugs":"atazanavir","pmid":26892777,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Looked at CL/F, concentration at 24 hours, and ratios of metabolites M1 and M2 to atazanavir.","sentence":"Genotype CC (assigned as deficiency phenotype) is not associated with concentrations of atazanavir in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371727,"variant_haplotypes":"CYP3A5 poor metabolizers and intermediate metabolizers","gene":"CYP3A5","drugs":"efavirenz, maraviroc","pmid":30192390,"phenotype_category":"Efficacy","significance":"no","notes":"There was no statistical significant difference in the number of subjects with HIV-1 RNA <50 and <400 copies/mL at weeks 48 and 96 of maraviroc and efavirenz treatment between CYP3A5 metabolizer phenotypes.","sentence":"CYP3A5 intermediate metabolizer and poor metabolizer are not associated with response to efavirenz or maraviroc in people with HIV Infections as compared to CYP3A5 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043709,"variant_haplotypes":"rs2246709","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a patient reaching a target mean arterial pressure concentration of <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are not associated with response to amlodipine in people with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371753,"variant_haplotypes":"CYP3A5 poor metabolizers","gene":"CYP3A5","drugs":"maraviroc","pmid":30192390,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In study A4001026, CYP3A5 poor metabolizers had a significant decrease in average maraviroc plasma concentrations compared to extensive metabolizers, contrary to what would be expected. The authors suggest that that this result may have been influenced by a number of variables, including HIV infection, in the study. This significance was lost when the 'black' and 'white' cohorts were analyzed separately. The authors determined this difference in maraviroc concentrations to not be clinically significant.","sentence":"CYP3A5 poor metabolizer is associated with decreased concentrations of maraviroc in people with HIV Infections as compared to CYP3A5 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4350512","article_title":"Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate","article_path":"articles/PMC4350512.md","variant_annotation_id":1184988665,"variant_haplotypes":"rs2160733","gene":"GRIN2B","drugs":"acamprosate","pmid":25290263,"phenotype_category":"Efficacy","significance":"no","notes":"Tag SNPs (518 total) were selected within genes associated with alcoholism as well as genes encoding enzymes involved in glycine metabolism, glycine transporters, subunits of glycine receptors, NMDA receptors, genes involved in glutamate reuptake, synthesis or degradation and genes with reported associations with acamprosate treatment outcomes in human or animal studies. The length of time to first alcohol use \u201csurvival analysis method\u201d was used to examine associations between clinical variables and genetic markers with efficacy of acomprasate (its ability to length the duration of abstinence from alcohol). The analyses were replicated in a subset of 110 participants from PREDICT, a double-blind randomized controlled trial that compared treatment outcomes including length of abstinence among alcohol- dependent subjects of German descent recruited from inpatient facilities and treated with acamprosate, naltrexone or placebo for 3 months.","sentence":"Allele C is not associated with response to acamprosate in people with Alcoholism as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557869,"variant_haplotypes":"rs1801394","gene":"MTRR","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was independently associated with worse response using two distinct measures of response 1) the difference in Disease Activity Score 28 between baseline and 6 months later (deltaDAS28) and 2) the European League Against Rheumatism (EULAR) criteria. For DAS28, each A allele corresponded to 0.14 deltaDAS28 units in an additive model vs the G allele (indicating worse response assoc. with A allele). Using EULAR criteria the A allele also had an increased OR=1.39 for non-response (95% CI 1.11\u20131.75).","sentence":"Allele A is associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6562943","article_title":"Patients carrying CYP2C8*3 have shorter systemic paclitaxel exposure","article_path":"articles/PMC6562943.md","variant_annotation_id":1450180334,"variant_haplotypes":"CYP2C8*3","gene":"CYP2C8","drugs":"paclitaxel","pmid":30520341,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by time above threshold concentration. CYP2C8*1/*3 or CYP2C8*3/*3 mean = 8.92 h, CYP2C8*1/*1 mean = 11.03 h","sentence":"CYP2C8 *3 is associated with decreased exposure to paclitaxel in women with Breast Neoplasms.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359426,"variant_haplotypes":"rs3842727","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928288,"variant_haplotypes":"rs6295","gene":"HTR1A","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043591,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"yes","notes":"Women who were carriers for the T allele were more likely to reach the target mean arterial pressure of <= 107 mm Hg when treated with amlodipine. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with increased response to amlodipine in women with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032576,"variant_haplotypes":"rs2283265","gene":"DRD2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant after permutation analysis based on 40,000 replicates, and not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this association may be linked to the association with rs7118900 in the ANKK1 gene. Alleles were reported as T/G, here they are complemented for the positive chromosomal strand with A representing T and C representing G.","sentence":"Genotypes AA + AC are associated with decreased dose of methadone in people with Heroin Dependence as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC9515473","article_title":"Genetic determinants of apixaban plasma levels and their relationship to bleeding and thromboembolic events","article_path":"articles/PMC9515473.md","variant_annotation_id":1451913100,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"apixaban","pmid":36186466,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"was significant for 3 measures of PK : AUCss, Cmax,ss, and Cmin,ss.","sentence":"Allele G is associated with decreased concentrations of apixaban in people with Atrial Fibrillation as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613482,"variant_haplotypes":"rs4986893","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.","sentence":"Allele G is not associated with dose of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491220,"variant_haplotypes":"rs10214163","gene":"SV2C","drugs":"quetiapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype TT is not associated with response to quetiapine in people with Schizophrenia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148543,"variant_haplotypes":"rs1800532","gene":"TPH1","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes GT + TT are associated with decreased response to escitalopram in people with Depression as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3048137","article_title":"Association of IL28B gene variations with mathematical modeling of viral kinetics in chronic hepatitis C patients with IFN plus ribavirin therapy","article_path":"articles/PMC3048137.md","variant_annotation_id":981481554,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, ribavirin","pmid":21321200,"phenotype_category":"Efficacy","significance":"yes","notes":"no GG patients were seen. SVR (at 24 weeks) was seen in 87% TT vs. 50% GT.","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotype GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} -{"pmcid":"PMC1884506","article_title":"Effects of various factors on steady-state plasma concentrations of risperidone and 9-hydroxyrisperidone: lack of impact of MDR-1 genotypes","article_path":"articles/PMC1884506.md","variant_annotation_id":1183620382,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"risperidone","pmid":15089809,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was seen between this SNP and metabolism of risperidone.","sentence":"Allele G is not associated with increased metabolism of risperidone in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2949912","article_title":"New genetic variant that might improve warfarin dose prediction in African Americans","article_path":"articles/PMC2949912.md","variant_annotation_id":827808098,"variant_haplotypes":"rs17886199","gene":"PRSS53, VKORC1","drugs":"warfarin","pmid":20716240,"phenotype_category":"Dosage","significance":"yes","notes":"independent of the VKORC1 1173C>T and CYP2C9*2 and *3 variants in African Americans.","sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3997354","article_title":"Genetic Polymorphism of Cytochrome P450 4F2, Vitamin E Level and Histological Response in Adults and Children with Nonalcoholic Fatty Liver Disease Who Participated in PIVENS and TONIC Clinical Trials","article_path":"articles/PMC3997354.md","variant_annotation_id":1184472053,"variant_haplotypes":"rs3093105","gene":"CYP4F2","drugs":"vitamin e","pmid":24759732,"phenotype_category":"Efficacy","significance":"no","notes":"The C allele is not significantly associated with improved liver histology in pediatric or adult patients receiving vitamin E (alpha-tocopherol) supplements.","sentence":"Allele C is not associated with response to vitamin e in people with Fatty liver disease as compared to allele A.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fatty liver disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9809306","article_title":"Exonuclease 1 genetic variant is associated with clinical outcomes of pemetrexed chemotherapy in lung adenocarcinoma","article_path":"articles/PMC9809306.md","variant_annotation_id":1451978320,"variant_haplotypes":"rs1653586","gene":"CAMKK2","drugs":"pemetrexed","pmid":36606188,"phenotype_category":"Efficacy","significance":"yes","notes":"Figure 1 has \"GG vs GT+TT\" but table 4 shows that no TT individuals were reported.","sentence":"Genotype GT is associated with decreased clinical benefit to pemetrexed in people with Lung Neoplasms as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2748889","article_title":"Association of serum cotinine level with a cluster of three nicotinic acetylcholine receptor genes (CHRNA3/CHRNA5/CHRNB4) on chromosome 15","article_path":"articles/PMC2748889.md","variant_annotation_id":981750833,"variant_haplotypes":"rs1051730","gene":"CHRNA3","drugs":"nicotine","pmid":19628476,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Serum Cotinine levels were measured to test for association between nicotine intake and this SNP. AA>AG>GG for serum cotinine levels in daily smokers. Authors noted that the variance was very high (R-squared = 4.3%). Effect size of this SNP was 0.30 . Cigarettes per day was also associated but not significantly so after correction for multiple testing.","sentence":"Allele A is associated with increased dose of nicotine as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715526,"variant_haplotypes":"rs10028494","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"yes","notes":"There was a significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Genotype CC is associated with decreased response to fentanyl in people with Pain, Postoperative as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC2943151","article_title":"Dual specificity phosphatase-1 as a pharmacogenetic modifier of inhaled steroid response among asthma patients","article_path":"articles/PMC2943151.md","variant_annotation_id":769174162,"variant_haplotypes":"rs881152","gene":"DUSP1","drugs":"salbutamol","pmid":20673984,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects were taking inhaled corticosteroids.","sentence":"Allele G is associated with increased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448432589,"variant_haplotypes":"rs8187843","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AA + AG are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166112,"variant_haplotypes":"rs9901673","gene":"SENP3","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043679,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a woman reaching a target mean arterial pressure concentration of <= 92 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to amlodipine in women with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359330,"variant_haplotypes":"rs1042098","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of heroin in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11773121","article_title":"Sub\u2010 and supratherapeutic efavirenz plasma concentrations with risk for HIV therapy failure are mainly genetically explained in Ugandan children: The prospective GENEFA cohort study","article_path":"articles/PMC11773121.md","variant_annotation_id":1452639900,"variant_haplotypes":"CYP2B6 intermediate metabolizer","gene":"CYP2B6","drugs":"efavirenz","pmid":39380207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"extensive metabolizer (EM), 516GGj983TT, intermediate metabolizer (IM), 516GGj983TC or 516GTj983TT, slow metabolizer (SM) 516GTj983TC or 516TTj983TT. \" \" Both IM and SM phenotype were significantly associated with higher loge EFV plasma concentra-tion compared to EM (P = .03 and .00, respectively).\"","sentence":"CYP2B6 intermediate metabolizer and poor metabolizer is associated with increased concentrations of efavirenz in children with HIV infectious disease as compared to CYP2B6 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2000718","article_title":"Effect of ABCB1 (MDR1) haplotypes derived from G2677T/C3435T on the pharmacokinetics of amlodipine in healthy subjects","article_path":"articles/PMC2000718.md","variant_annotation_id":982043554,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"amlodipine","pmid":16869811,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When analyzed in combination with genotypes from rs1045642. The haplotypes were: 2677CC/3435GG, 2677AC/3435AG, 2677AA/3435AA, where rs2032582 = position 2677 and rs1045642 = position 3435.; Individuals with the 2677CC/3435GG haplotype had increased area under the time-concentration curve from 0 to 144 hours (AUC0-144) and from 0 to infinity (AUC0-infinity) and decreased oral clearance (CL/F) as compared to haplotypes 2677AA/3435AA + 2677AC/3435AG, and increased peak plasma concentration (Cmax) as compared to haplotype 2677AA/3435AA ONLY. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is associated with decreased clearance of amlodipine in healthy individuals as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC3116045","article_title":"The Contribution of Common CYP2A6 Alleles to Variation in Nicotine Metabolism Among European Americans","article_path":"articles/PMC3116045.md","variant_annotation_id":1451675720,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*14, CYP2A6*38, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":21597399,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"*2 and *4 are used as examples of 'null' alleles. Please note that this study uses the *1B allele (subsequently reassigned as *46 by PharmVar) as the 'reference allele' and that the *38 allele is described in the paper as '*1D-Y351H'.","sentence":"CYP2A6 *1 + *46 + *9 + *14 + *38 are associated with increased metabolism of nicotine as compared to CYP2A6 *2 + *4.","alleles":"*1 + *46 + *9 + *14 + *38","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2 + *4","comparison_metabolizer_types":null} -{"pmcid":"PMC3984266","article_title":"Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer","article_path":"articles/PMC3984266.md","variant_annotation_id":1446895539,"variant_haplotypes":"rs4939827","gene":"SMAD7","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":24727911,"phenotype_category":"Efficacy","significance":"no","notes":"SNPs were investigated for their effects on response rate, time to progression and overall survival. After accounting for multiple testing there was no association with any SNPs and outcomes of patients with metastatic colorectal cancer.","sentence":"Allele C is not associated with response to fluorouracil, irinotecan and oxaliplatin in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930612,"variant_haplotypes":"rs660652","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele A is not associated with exposure to nicotine in men as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6501809","article_title":"Pharmacokinetic-Pharmacodynamic interaction associated with venlafaxine-XR remission in patients with major depressive disorder with history of citalopram / escitalopram treatment failure","article_path":"articles/PMC6501809.md","variant_annotation_id":1452046232,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"venlafaxine","pmid":30578947,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in remission (QIDS-C16) in patients receiving duloxetine (duloxetine after SSRI failure).","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to venlafaxine in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC3403289","article_title":"CHRNB2 Promoter Region: Association with subjective effects to nicotine and expression differences","article_path":"articles/PMC3403289.md","variant_annotation_id":981483837,"variant_haplotypes":"rs2072658","gene":"CHRNB2","drugs":"nicotine","pmid":20854418,"phenotype_category":"Other","significance":"yes","notes":"Response(sweating, heart pounding and nausea) to the first experimental cigarette was measured using the NEQ(nicotine effects scale). There were no AA subjects.","sentence":"Genotype AG is associated with increased response to nicotine in people with daily smoking as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:daily smoking","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978599,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"phenytoin","pmid":15805193,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with increased dose of phenytoin in people with Epilepsy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8472669","article_title":"Genetic Polymorphisms of GGH and ABCC2 Are Associated with Methotrexate Intolerance in Patients with Rheumatoid Arthritis","article_path":"articles/PMC8472669.md","variant_annotation_id":1451535140,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"methotrexate","pmid":34575187,"phenotype_category":"Toxicity","significance":"yes","notes":"Patients receiving MTX and bDMARD treatment (combined treatment) at the time of the study were considered \u201ctolerant\u201d to MTX. Patients receiving bDMARD monotherapy at the study visit were asked about the reason for MTX discontinuation. In cases of discontinuation due to adverse events or toxicity (such as nausea; vomiting; dyspepsia; alopecia; oral ulcers; leukopenia; hepatic alterations, defined as alanine aminotransferase levels greater than 1.5 times the upper normal limit; or pulmonary toxicity), these patients were considered \u201cintolerant\u201d to MTX.","sentence":"Genotypes CT + TT is associated with decreased discontinuation of methotrexate in people with Arthritis, Rheumatoid as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862244,"variant_haplotypes":"rs174699","gene":"ARVCF, COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs2239393, rs4818, rs4680, rs737866, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele T is associated with decreased dose of morphine in people with Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9373641","article_title":"The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study","article_path":"articles/PMC9373641.md","variant_annotation_id":1451444938,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":33915198,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of dexmedetomidine in men as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10898793","article_title":"Polymorphisms in the A118G SNP of the OPRM1 gene produce different experiences of opioids: A human laboratory phenotype\u2013genotype assessment","article_path":"articles/PMC10898793.md","variant_annotation_id":1452358900,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"hydromorphone","pmid":38221808,"phenotype_category":"PD","significance":"yes","notes":"\"Participants with AG/GG rated low and moderate doses of hydromorphone as significantly more positive (e.g., Good Effects VAS, coasting, drive, friendly, talkative, stimulation) with fewer negative effects (e.g., itchy skin, nausea, sleepiness), and were also observed as being more talkative and energetic relative to persons with AA.\"","sentence":"Genotypes AG + GG is associated with increased response to hydromorphone in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3760990","article_title":"Influence of CYP2C8*2 on the pharmacokinetics of pioglitazone in healthy African American volunteers","article_path":"articles/PMC3760990.md","variant_annotation_id":1450417453,"variant_haplotypes":"CYP2D6*1, CYP2D6*2","gene":"CYP2D6","drugs":"pioglitazone","pmid":23712614,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2D6 *1A/*2 + *2/*2 is not associated with pioglitazone plasma exposure (area under the plasma concentration-time curve (AUC)0-infinity) and half-life (t1/2 ) in healthy African-American volunteers when exposed to pioglitazone in healthy individuals as compared to CYP2D6 *1A/*1A.","sentence":"CYP2D6 *1/*2 + *2/*2 are not associated with metabolism of pioglitazone in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171079,"variant_haplotypes":"rs8192709","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of methadone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114894,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and ACU0-12 of ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as T512C.","sentence":"Allele C is not associated with exposure to ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114860,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and clearance of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as G2677T.","sentence":"Allele A is not associated with clearance of lopinavir or ritonavir in children with HIV Infections as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2906637","article_title":"ASSOCIATION BETWEEN POLYMORPHIC VARIATION IN VDR AND RXRA AND CIRCULATING LEVELS OF VITAMIN D METABOLITES","article_path":"articles/PMC2906637.md","variant_annotation_id":981755649,"variant_haplotypes":"rs9409929","gene":null,"drugs":"vitamin d and analogues","pmid":20307661,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was described as a trend towards increasing 1,25 (OH)2D levels with each additional copy of the A allele. p was not significant after correction for multiple testing.","sentence":"Allele A is associated with increased metabolism of vitamin d and analogues in people with Adenoma as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Adenoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1873375","article_title":"Non-linear fluvoxamine disposition","article_path":"articles/PMC1873375.md","variant_annotation_id":1452643620,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"fluvoxamine","pmid":9517369,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Subjects are phenotyped with dextromethorphan. 2Pms and 8EMs. Fluvoxamine dose was steadily increased over 4 weeks.\"The two CYP2D6 PMs had AUC values in the same range as the EMs.\"","sentence":"CYP2D6 poor metabolizer is not associated with increased concentrations of fluvoxamine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4716887","article_title":"Influence of ADME genomic variants on tacrolimus/sirolimus blood levels and GVHD after allogeneic hematopoietic cell transplantation","article_path":"articles/PMC4716887.md","variant_annotation_id":1447674595,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26325438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *3/*3 genotype had higher median drug levels of tacrolimus as compared to those with the *1/*1 or *1/*3 genotype. Significant results were also observed for the dose-adjusted concentrations (C/D) of tacrolimus (p=0.01).","sentence":"CYP3A5 *3/*3 is associated with increased concentrations of tacrolimus in people with hematopoietic stem cell transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003535,"variant_haplotypes":"rs41303343","gene":"CYP3A5","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine was significantly higher in carriers of the A allele as compared to non-carriers.","sentence":"Allele A is associated with increased concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC4043918","article_title":"The impact of age and CYP2C9 and VKORC1 variants on stable warfarin dose in the paediatric population","article_path":"articles/PMC4043918.md","variant_annotation_id":1185235744,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":24601977,"phenotype_category":"Dosage","significance":"no","notes":"CYP4F2 genotype was not associated with stable warfarin dose.","sentence":"Allele C is not associated with dose of warfarin in children as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5866313","article_title":"Genome\u2010Wide Association Approach Identified Novel Genetic Predictors of Heart Rate Response to \u03b2\u2010Blockers","article_path":"articles/PMC5866313.md","variant_annotation_id":1450943585,"variant_haplotypes":"rs17117817","gene":"OR10P1","drugs":"atenolol, metoprolol","pmid":29478026,"phenotype_category":"PD","significance":"yes","notes":"as measured by decreased heart rate.","sentence":"Allele G is associated with decreased response to atenolol or metoprolol in people with Hypertension as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821568,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes GT + TT is associated with increased concentrations of efavirenz in children with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002437,"variant_haplotypes":"rs501415","gene":"WDR7","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477298,"variant_haplotypes":"rs2239347","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA genotype have a reduced frequency of asthma exacerbations compared to those with the AC + CC genotypes.","sentence":"Genotype AA is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6387687","article_title":"Carfilzomib and lenalidomide response related to VEGF and VEGFR2 germline polymorphisms","article_path":"articles/PMC6387687.md","variant_annotation_id":1448634646,"variant_haplotypes":"rs833061","gene":"VEGFA","drugs":"carfilzomib, dexamethasone, lenalidomide","pmid":28488026,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors indicate repose as CR/nCR/sCR but do not define these and non-response as VGPR and PR/SD (which assume to mean progression/stable disease). They also test \"minimum residual disease negativity\" MRD- as measure of response.","sentence":"Genotypes CT + TT is associated with increased response to carfilzomib, dexamethasone and lenalidomide in people with Multiple Myeloma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Multiple Myeloma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163518,"variant_haplotypes":"rs41303343","gene":"CYP3A5","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this was one of the variants that passed validation. Direction of effect was not stated. This variant was only present in the AA population.","sentence":"Allele A is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC4445755","article_title":"Genetic variants in combination with early partial improvement as a clinical utility predictor of treatment outcome in major depressive disorder: the result of two pooled RCTs","article_path":"articles/PMC4445755.md","variant_annotation_id":1447681340,"variant_haplotypes":"rs6295","gene":"HTR1A","drugs":"milnacipran","pmid":25710119,"phenotype_category":"Efficacy","significance":"yes","notes":"depressive symptoms measured on Hamilton Rating Scale for Depression and outcome as change in symptoms, as measured 6 weeks after drug, following 10 days washout.","sentence":"Genotypes CC + CG are associated with increased response to milnacipran in people with Depressive Disorder as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC1364713","article_title":"Disposition of clozapine in man: lack of association with debrisoquine and S-mephenytoin hydroxylation polymorphisms","article_path":"articles/PMC1364713.md","variant_annotation_id":1183617637,"variant_haplotypes":"CYP2D6*1","gene":"CYP2D6","drugs":"clozapine","pmid":8148222,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2D6 genotype does not impact clozapine disposition.","sentence":"CYP2D6 *1 is not associated with metabolism of clozapine in healthy individuals.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491506,"variant_haplotypes":"rs1458038","gene":"FGF5","drugs":"hydrochlorothiazide","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele C is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271238,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between genotypes.","sentence":"Genotype GG is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452014820,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*4","gene":"CYP2C19","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared to the reference group (CYP2C19*1/*1), patients homozygous for the non-functional CYP2C19 alleles (*2, *3, or *4) had a 2.3-fold (n = 29, p < 0.001) increase in serum concentrations of sertraline. Patients heterozygous for the non-functional alleles of CYP2C19 in combination with either CYP2C:TG or *1 had 1.21-fold and 1.37-fold increased sertraline concentration, respectively.","sentence":"CYP2C19 *2 + *3 + *4 are associated with increased concentrations of sertraline as compared to CYP2C19 *1/*1.","alleles":"*2 + *3 + *4","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5500390","article_title":"CYP2D6 Genetic Variation and Beta-Blocker Maintenance Dose in Patients with Heart Failure","article_path":"articles/PMC5500390.md","variant_annotation_id":1449717747,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"metoprolol","pmid":28181117,"phenotype_category":"Dosage","significance":"yes","notes":"Patients treated with metoprolol with 7.7 times more likely to have a lower maintenance dose of metoprolol for every *4 allele present.","sentence":"CYP2D6 *4 is associated with decreased dose of metoprolol in people with Heart Failure.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8081740","article_title":"Effects of NT5C2 germline variants on 6-mecaptopurine metabolism in children with acute lymphoblastic leukemia","article_path":"articles/PMC8081740.md","variant_annotation_id":1451502880,"variant_haplotypes":"rs58700372","gene":"CNNM2","drugs":"mercaptopurine","pmid":33124053,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is associated with a significant decrease in TGN metabolite levels during 6-MP treatment in Children With Acute Lymphoblastic Leukemia. The study also showed that rs58700372 directly altered the activity of an intronic enhancer, with the variant allele linked to higher transcription activity and reduced 6-MP metabolism (lower TGN).","sentence":"Genotypes CC + CT are associated with decreased metabolism of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370804,"variant_haplotypes":"rs2189784","gene":"CYP4F2","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"Allele G is not associated with dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5061780","article_title":"L\u2010thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer: Effect of a novel UGT1 marker, rs11563250A > G","article_path":"articles/PMC5061780.md","variant_annotation_id":1448427044,"variant_haplotypes":"rs11563250","gene":"MROH2A, UGT1A","drugs":"levothyroxine","pmid":27527610,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with increased dose of levothyroxine in people with Thyroid Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Thyroid tumor","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11921366","article_title":"Novel LZTR1 germline mutation as a mechanism of resistance to osimertinib in EGFR-mutated lung adenocarcinoma: a case report","article_path":"articles/PMC11921366.md","variant_annotation_id":1453076500,"variant_haplotypes":"rs1411200130","gene":"LZTR1","drugs":"osimertinib","pmid":40114953,"phenotype_category":"Efficacy","significance":"no","notes":"\"Here we present a patient with initial stage IIIA (T1b cN2 M0) adenocarcinoma of the lung, with confirmed EGFR exon 19 mutation (c.2236\u20132250del) with potential resistance to TKIs due to her leucine-zipper-like transcriptional regulator-1 (LZTR1) c.1653C>G variant. \" Mapped by search of ClinVar.","sentence":"Allele G is associated with increased resistance to osimertinib in women with Non-Small Cell Lung Carcinoma.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648703,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs72552763 and rs34130495. There was a non-significant trend for patients carrying reduced function alleles to have increased exposure to morphine, but the change in exposure is not large enough to be of clinical importance.","sentence":"Allele A is not associated with exposure to morphine in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3774043","article_title":"Intestinal CYP3A4 and Midazolam Disposition in vivo Associate with VDR Polymorphisms and Show Seasonal Variation","article_path":"articles/PMC3774043.md","variant_annotation_id":981505272,"variant_haplotypes":"rs1544410","gene":"VDR","drugs":"midazolam","pmid":22484315,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CC > CT > TT.","sentence":"Allele C is associated with increased clearance of midazolam as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3658129","article_title":"Neurotrophic Tyrosine Kinase Receptor Type 2 (NTRK2) Gene Associated with Treatment Response to Mood Stabilizers in Patients with Bipolar I Disorder","article_path":"articles/PMC3658129.md","variant_annotation_id":981954249,"variant_haplotypes":"rs1387923","gene":"NTRK2","drugs":"lithium","pmid":23315174,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to lithium in people with Bipolar Disorder as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7274090","article_title":"Association of CYP2C19 Polymorphisms and Lansoprazole-Associated Respiratory Adverse Effects in Children","article_path":"articles/PMC7274090.md","variant_annotation_id":982047769,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*8, CYP2C19*9","gene":"CYP2C19","drugs":"lansoprazole","pmid":23623526,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2C19 poor metabolizers (defined as having one or more of the following alleles: *2, *3, *8, or *9) were found to have significantly higher mean plasma concentrations of lansoprazole as compared to extensive metabolizers (defined as having two wildtype alleles). Some patients in the cohort included in the analysis also had the *17 allele, but how these were taken into consideration in terms of phenotype was not detailed.","sentence":"CYP2C19 *2 + *3 + *8 + *9 (assigned as poor metabolizer phenotype) is associated with decreased metabolism of lansoprazole in children with Asthma as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2 + *3 + *8 + *9","specialty_population":"Pediatric","metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4737107","article_title":"Thiopurine dose intensity and treatment outcome in childhood lymphoblastic leukaemia: the influence of thiopurine methyltransferase pharmacogenetics","article_path":"articles/PMC4737107.md","variant_annotation_id":1333193294,"variant_haplotypes":"TPMT*1, TPMT*2, TPMT*3A, TPMT*3C, TPMT*9, TPMT*21, TPMT*33, TPMT*34","gene":"TPMT","drugs":"mercaptopurine, thioguanine","pmid":25441457,"phenotype_category":"Dosage","significance":"yes","notes":"As compared to those with the wild-type genotype (*1/*1), those patients heterozygous for the TPMT variant alleles had a 1) a lower average dose (70.4% vs 78.0%, where dose given as the % of standard protocol dose), 2) a greater percentage of time spent at no dose (20.8% vs 15.5%) and 3) a smaller percentage of time where the dose was escalated (2.4% vs 5.8%).","sentence":"TPMT *1/*2 + *1/*3A + *1/*3C + *1/*9 + *1/*21 + *1/*33 + *1/*34 is associated with decreased dose of mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*2 + *1/*3A + *1/*3C + *1/*9 + *1/*21 + *1/*33 + *1/*34","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550253,"variant_haplotypes":"rs2535764","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele T is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11049954","article_title":"Association of CYP3A4-392A/G, CYP3A5-6986A/G, and ABCB1-3435C/T Polymorphisms with Tacrolimus Dose, Serum Concentration, and Biochemical Parameters in Mexican Patients with Kidney Transplant","article_path":"articles/PMC11049954.md","variant_annotation_id":1452457641,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":38674430,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented.","sentence":"Genotype TT is not associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375524,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment. This SNP is in perfect LD with rs45499402.","sentence":"Allele T is associated with decreased response to allopurinol as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4892970","article_title":"Disposition Kinetics and Metabolism of Nicotine and Cotinine in African American smokers: Impact of CYP2A6 Genetic Variation and Enzymatic Activity","article_path":"articles/PMC4892970.md","variant_annotation_id":1447982613,"variant_haplotypes":"CYP2A6*4, CYP2A6*9, CYP2A6*17, CYP2A6*26","gene":"CYP2A6","drugs":"nicotine","pmid":27035242,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The two slowest metabolizers in the study (*4/*17 and *9/*26 genotypes) showing much lower cotinine levels than expected for their daily nicotine intake, which is the result of not converting much nicotine to cotinine.","sentence":"CYP2A6 *4/*17 + *9/*26 are associated with decreased metabolism of nicotine.","alleles":"*4/*17 + *9/*26","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10648962","article_title":"Dolutegravir pharmacokinetics in Ugandan patients with TB and HIV receiving standard- versus high-dose rifampicin","article_path":"articles/PMC10648962.md","variant_annotation_id":1452279582,"variant_haplotypes":"UGT1A1*1, UGT1A1*28, UGT1A1*36","gene":"UGT1A1","drugs":"dolutegravir","pmid":37850738,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"Genetic polymorphism of UGT1A1 did not significantly affect dolutegravir pharmacokinetics.\"","sentence":"UGT1A1 *1/*28 + *1/*36 + *28/*28 is not associated with metabolism of dolutegravir in people with HIV Infections and Tuberculosis as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *1/*36 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450932030,"variant_haplotypes":"rs563649","gene":"OPRM1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and consumption of sufentanil. While this variant is described in the text as a C>T SNP, it is displayed in the table as a G>A SNP. dbSNP confirms that this is a C>T SNP so it has been assumed that this is an error in the tables. As a result, information from the tables has been assigned to the following genotypes: AA=CC, AG=CT and GG=TT.","sentence":"Allele C is not associated with dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165208,"variant_haplotypes":"rs2289669","gene":"SLC47A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to metformin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4630174","article_title":"CYP2D6 Haplotype Determination Using Long Range Allele-Specific Amplification: Resolution of a Complex Genotype and a Discordant Genotype Involving the CYP2D6*59 Allele","article_path":"articles/PMC4630174.md","variant_annotation_id":1446899262,"variant_haplotypes":"CYP2D6*4, CYP2D6*59","gene":"CYP2D6","drugs":"dextromethorphan","pmid":26335396,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Subject with the *4/*59 diplotype had a dextromethorphan/dextrorphan urinary metabolic ratio of 0.165 with was consistent with intermediate metabolizer phenotype.","sentence":"CYP2D6 *4/*59 (assigned as intermediate metabolizer phenotype) is associated with decreased metabolism of dextromethorphan.","alleles":"*4/*59","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682066,"variant_haplotypes":"rs833069","gene":"VEGFA","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"no","notes":"Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.","sentence":"Allele C is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166009,"variant_haplotypes":"rs12302749","gene":"SPSB2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5541380","article_title":"Functional Mu Opioid Receptor Polymorphism (OPRM1 A118G) Associated With Heroin Use Outcomes in Caucasian Males: A Pilot Study","article_path":"articles/PMC5541380.md","variant_annotation_id":1450822015,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"heroin","pmid":25911999,"phenotype_category":"Toxicity","significance":"no","notes":"No association between this variant and heroin use in the last month.","sentence":"Allele G is not associated with dose of heroin in men Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7993015","article_title":"Genetic Variant in CHRNA5 and Response to Varenicline and Combination Nicotine Replacement in a randomized placebo-controlled trial","article_path":"articles/PMC7993015.md","variant_annotation_id":1451347701,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"varenicline","pmid":32602170,"phenotype_category":"Efficacy","significance":"yes","notes":"compared to placebo. In African American smokers, varenicline was more effective in smokers of GA/AA genotypes vs. placebo. There was no significant genotype-by-treatment interaction in smokers of European ancestry.","sentence":"Genotypes AA + AG are associated with increased response to varenicline in people with Tobacco Use Disorder.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4943390","article_title":"Tamoxifen Dose Escalation in Patients With Diminished CYP2D6 Activity Normalizes Endoxifen Concentrations Without Increasing Toxicity","article_path":"articles/PMC4943390.md","variant_annotation_id":1448110410,"variant_haplotypes":"CYP2D6 normal metabolizer and ultrarapid metabolizer","gene":"CYP2D6","drugs":"endoxifen","pmid":27226358,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"at baseline before genotype guided dosing. In this CYP2D6 genotype-guided study, women who were initially receiving 20 mg/day of tamoxifen, were given 40 mg/day if they were CYP2D6 poor (N=17) or intermediate metabolizers (N=212), but remained on the 20 mg/day dose if they were CYP2D6 extensive (N=119) or ultra-metabolizer phenotype (N=5). The UM/PM had significantly higher concentrations of endoxifen at baseline as compared to the IM and PM phenotypes.","sentence":"CYP2D6 normal metabolizer and ultra-metabolizer are associated with increased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 poor metabolizers and intermediate metabolizers.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} -{"pmcid":"PMC2352037","article_title":"Effect of deletion polymorphism of angiotensin converting enzyme gene on progression of diabetic nephropathy during inhibition of angiotensin converting enzyme: observational follow up study","article_path":"articles/PMC2352037.md","variant_annotation_id":982032925,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"captopril","pmid":8806248,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the del/del genotype had steeper decline in glomerular filtration rate (GFR) compared to the other genotypes, indicating a decline in renal function.","sentence":"Genotype del/del is associated with increased resistance to captopril in people with Diabetes Mellitus as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del.","alleles":"del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114014,"variant_haplotypes":"rs16918941","gene":"OPRK1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820497,"variant_haplotypes":"rs10052999","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"When considering RECIPIENT genotype - no significant difference in concentration/dose ratio was seen between those with the CT genotype and those with the CC or TT genotypes at weeks 1-4 of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotype CT is not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973760,"variant_haplotypes":"rs6809699","gene":"P2RY12","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"yes","notes":"was significant in Recessive and co-dominant models. This was also seen when examined in just CYP2C19*1/*1 in discovery cohort but not whole cohort. Paper talks about using 2 cohorts, one for discovery and one for replication but it is not explicit about which are in which table of results. \"Patients carrying the P2RY12 rs6809699 CA genotype or the rs6809699 A allele also showed significantly increased risk of CR (CA vs CC genotype: OR 2.270, 95% CI 1.019\u20135.059, P\u2009=\u20090.045; CA\u2009+\u2009AA vs CC genotype: OR 2.636, 95% CI 1.199\u20135.796; P\u2009=\u20090.016). \"","sentence":"Genotypes AA + AC is associated with increased resistance to clopidogrel in people with Coronary Disease as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756042,"variant_haplotypes":"rs3759126","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935725,"variant_haplotypes":"rs61311738","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the T allele was 0.7% of that of the WT protein. Variant referred to as 518C>T in the paper.","sentence":"Allele T is associated with decreased clearance of mephenytoin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7308427","article_title":"Polymorphisms of SLC19A1 80 G>A, MTHFR 677 C>T, and Tandem TS Repeats Influence Pharmacokinetics, Acute Liver Toxicity, and Vomiting in Children With Acute Lymphoblastic Leukemia Treated With High Doses of Methotrexate","article_path":"articles/PMC7308427.md","variant_annotation_id":1451552752,"variant_haplotypes":"rs45445694","gene":"TYMS","drugs":"methotrexate","pmid":32612964,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Variant mapped to rs45445694 by PharmGKB.","sentence":"Genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 is associated with increased steady-state concentration of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3.","alleles":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3","comparison_metabolizer_types":null} -{"pmcid":"PMC5461999","article_title":"Lumacaftor/Ivacaftor Treatment of Patients with Cystic Fibrosis Heterozygous for F508del\u2010CFTR","article_path":"articles/PMC5461999.md","variant_annotation_id":1449192508,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, lumacaftor","pmid":27898234,"phenotype_category":"Efficacy","significance":"yes","notes":"F508del allele. All study participants had the F508del allele on one allele and a second that was predicted to not respond to ivacaftor/lumacaftor treatment. Two out of five outcomes showed a significant improvement following 56 days of ivacaftor/lumacaftor treatment.","sentence":"Genotype CTT/del is associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.","alleles":"CTT/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995807,"variant_haplotypes":"rs2274755","gene":"MMP9","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757038,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele C is not associated with dose of warfarin in people with heart valve replacement as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3130093","article_title":"Nerve growth factor beta polypeptide (NGFB) genetic variability: association with the methadone dose required for effective maintenance treatment","article_path":"articles/PMC3130093.md","variant_annotation_id":769182369,"variant_haplotypes":"rs2239622","gene":"NGF","drugs":"methadone","pmid":21358750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased dose of methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896253,"variant_haplotypes":"rs1210638","gene":"DGCR5","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043719,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a man reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with response to amlodipine in men with Hypertension as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC11773116","article_title":"Exploring the contribution of genetic variants to high sunitinib exposure in patients with cancer","article_path":"articles/PMC11773116.md","variant_annotation_id":1452564180,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"sunitinib","pmid":39107874,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\" Of note, rs2231137, 1 of the top SNVs reported in previous studies located on the ABCG2 gene, showed a P-value of 6.52 \u0003 x10-6. While above our predefined thresholds, this does not completely exclude involvement of ABCG2 in sunitinib PK, though the effect size will be small and not likely to be clinically relevant.\" Assumed that minor allele is associated with increased concentration/toxicity.","sentence":"Allele T is associated with increased concentrations of sunitinib in people with Carcinoma, Renal Cell or Gastrointestinal Stromal Tumors as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Renal Cell Carcinoma, Other:Gastrointestinal Stromal Tumors","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3081375","article_title":"Tamoxifen Metabolite Concentrations, CYP2D6 Genotype and Breast Cancer Outcomes","article_path":"articles/PMC3081375.md","variant_annotation_id":1444935629,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, endoxifen","pmid":21430657,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations of endoxifen, 4-hydroxytamoxifen, and N-desmethyltamoxifen were strongly associated with CYP2D6 phenotype. No evidence for a linear relationship between the concentration levels of tamoxifen and/or any of the measured metabolites and breast cancer outcomes. Increased risk of breast cancer recurrence was found for patients with endoxifen concentrations in the bottom quintile of the distribution. Participants were diagnosed with breast cancer and completed primary treatment. Included were patients with ER-positive tumor who had been taking tamoxifen for at least 4 month. no info on menopausal status. Genotyped using AmpliChip CYP450 Test. (i) nonfunctional (PM) alleles include CYP2D6*3, *4, *5, *6, *7, *8, *11, *14A, *15, *19, *20, and *40, and the *4XN gene duplication; (ii) reduced function (intermediate metabolizer) alleles include CYP2D6*9, *10, *17, *29, *36, and *41, and gene duplications *10XN, *17XN, and *41XN; (iii) fully functional (extensive metabolizer or EM) alleles include CYP2D6*1, *2, and *35 and (iv) increased function (ultrarapid metabolizer) phenotype alleles include gene duplications such as CYP2D6*1XN, *2XN, and *35XN. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood] [HWE: yes]","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of 4-hydroxytamoxifen or endoxifen in women with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC11850035","article_title":"Analgesic therapy failure in a COMT HPS/HPS diplotype carrier heterozygous for the CYP2D6 *4 allele with fibromyalgia\u2014a case report","article_path":"articles/PMC11850035.md","variant_annotation_id":1452865980,"variant_haplotypes":"COMT low activity","gene":"COMT","drugs":"acetaminophen, duloxetine, ibuprofen, oxycodone, pregabalin","pmid":39995492,"phenotype_category":"Efficacy","significance":"no","notes":"\"40-year-old female patient was diagnosed with chronic lumbalgia and fibromyalgia\" \" insufficient pain relief\" \"COMT HPS/HPS diplotype carrier implicating lower COMT activity and higher pain sensitivity\" Genotypes from table 2: rs6269 AA, rs4633 CC, rs4818 CC, rs4680 GG and CYP2D6 *1/*4","sentence":"COMT low activity is associated with decreased clinical benefit to acetaminophen, duloxetine, ibuprofen, oxycodone and pregabalin in women with Fibromyalgia and Low Back Pain.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Other:Fibromyalgia, Other:Low Back Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5391214","article_title":"Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects","article_path":"articles/PMC5391214.md","variant_annotation_id":1451352861,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"atorvastatin","pmid":28435225,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant was associated with changes in total cholesterol and LDL-C at 48 hours after atorvastatin administration. The decrease in total cholesterol and LDL-C was smaller in those with G/A (n=7) than in the 43 subjects with G/G.","sentence":"Genotype AG is associated with decreased response to atorvastatin in healthy individuals as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2883666","article_title":"Replicated Association between an IL28B Gene Variant and a Sustained Response to Pegylated Interferon and Ribavirin","article_path":"articles/PMC2883666.md","variant_annotation_id":981501273,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":20176026,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"Treatment was with peginterferon- type was not specified. Authors noted that small sample size of Black subjects limited power to detect an association.","sentence":"Allele C is not associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b or ribavirin in people with Hepatitis C, Chronic as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550241,"variant_haplotypes":"rs3819479","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele A is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589737,"variant_haplotypes":"rs8050894","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CG + GG are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470386,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"cyclosporine","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"no","notes":"A single steady-state concentration of cyclosporine was collected for each patient 2-7 wks post-transplant and compared to dose of cyclosporine administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of cyclosporine. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele T is not associated with increased metabolism of cyclosporine in people with Kidney Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4591203","article_title":"Escitalopram pharmacogenetics: CYP2C19 relationships with dosing and clinical outcomes in Autism Spectrum Disorder","article_path":"articles/PMC4591203.md","variant_annotation_id":1446895857,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"escitalopram","pmid":26313485,"phenotype_category":"Dosage","significance":"no","notes":"No difference was found between intermediate/poor metabolizer vs extensive metabolizer or ultra rapid metabolizer. *3 was genotyped but no carrier identified. *2/*2 N=1 and was grouped with *1/*2. *1/*17 and *17/*17 were grouped together as UM. Final doses (mean \u00b1 SD, mg/day) across metabolizer groups were ultrarapid metabolizers (12.5 \u00b1 7.8), extensive metabolizers (15.4 \u00b1 6.4), and reduced metabolizers (16.7 \u00b1 5.8). Ultrarapid metabolizers showed a slower rate of change in dose over time.","sentence":"CYP2C19 *1/*2 + *2/*2 are not associated with dose of escitalopram in people with Autistic Disorder as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autism","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC8222836","article_title":"Genetic variants related to successful migraine prophylaxis with verapamil","article_path":"articles/PMC8222836.md","variant_annotation_id":1452315160,"variant_haplotypes":"rs17844444","gene":"PCDHB6","drugs":"verapamil","pmid":33829662,"phenotype_category":"Efficacy","significance":"yes","notes":"\"There are 3 highly significant SNPs (p\u2010value < 0.008) in both the arithmetic and percentage change models: rs2230433 within the Integrin Subunit Alpha L gene (ITGAL) [OMIM#153370], rs17844444 in Protocadherin Beta 6 gene (PCDHB6) [OMIM#606332] and rs3733694 in Protocadherin Beta 7 gene (PCDHB7) [OMIM#606333].\" \"rs17844444 (PCDHB6) and rs3733694 (PCDHB7), the minor alleles predicted non\u2010response to verapamil.\"","sentence":"Allele A is associated with decreased clinical benefit to verapamil in people with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3116045","article_title":"The Contribution of Common CYP2A6 Alleles to Variation in Nicotine Metabolism Among European Americans","article_path":"articles/PMC3116045.md","variant_annotation_id":1451675840,"variant_haplotypes":"CYP2A6*1, CYP2A6*9, CYP2A6*12, CYP2A6*38, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":21597399,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Note that this study uses the *1B allele as the 'reference allele' (subsequently reassigned as the *46 allele by PharmVar) and that the *38 allele is described in the paper as '*1D-Y351H'.","sentence":"CYP2A6 *1 + *9 + *12 + *38 are associated with decreased metabolism of nicotine as compared to CYP2A6 *46.","alleles":"*1 + *9 + *12 + *38","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*46","comparison_metabolizer_types":null} -{"pmcid":"PMC7431691","article_title":"CYP3A5 Gene-Guided Tacrolimus Treatment of Living-Donor Egyptian Kidney Transplanted Patients","article_path":"articles/PMC7431691.md","variant_annotation_id":1451554440,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":32848803,"phenotype_category":"Dosage","significance":"yes","notes":"Mean starting dose was 45.96% higher in *1 carriers than in *3/*3 patients. One-year mean dose was 85.55% higher in *1 carriers compared to *3/*3.","sentence":"CYP3A5 *1/*1 + *1/*3 are associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896143,"variant_haplotypes":"rs4615376","gene":"PHACTR1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678756,"variant_haplotypes":"rs1063320","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"no","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). Neither were significantly associated with any genotype.","sentence":"Genotype CC is not associated with response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589723,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436560,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703675,"variant_haplotypes":"rs4431329","gene":"FBXL17","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele T is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5006145","article_title":"Impact of CYP2C9, VKORC1 and CYP4F2 genetic polymorphisms on maintenance warfarin dosage in Han-Chinese patients: A systematic review and meta-analysis","article_path":"articles/PMC5006145.md","variant_annotation_id":1449260063,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":27617219,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2757655","article_title":"Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans","article_path":"articles/PMC2757655.md","variant_annotation_id":1447519665,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":18466099,"phenotype_category":"Dosage","significance":"yes","notes":"in European Americans and African americans.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715490,"variant_haplotypes":"rs6851533","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928764,"variant_haplotypes":"rs2036527","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"yes","notes":"Women with the AA or AG genotypes were more likely to be abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation compared to those with the GG genotype.","sentence":"Genotypes AA + AG are associated with increased response to bupropion, nicotine or varenicline in women with Tobacco Use Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703611,"variant_haplotypes":"rs11189015","gene":"SLIT1","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele C is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553477,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3944116","article_title":"Effect of CYP3A4*22, CYP3A5*3, and CYP3A Combined Genotypes on Cyclosporine, Everolimus, and Tacrolimus Pharmacokinetics in Renal Transplantation","article_path":"articles/PMC3944116.md","variant_annotation_id":1184470932,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":24522145,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of the *1 allele had 53% higher clearance as compared with non-carriers. CYP3A5*3 explained 5.5% of the variability in tacrolimus clearance.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4470685","article_title":"Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma","article_path":"articles/PMC4470685.md","variant_annotation_id":1444929661,"variant_haplotypes":"rs953977","gene":null,"drugs":"montelukast","pmid":26083242,"phenotype_category":"Efficacy","significance":"no","notes":"This allele showed a trend toward association but not at the genome wide significance level. Study Cohort: Discovery cohort (N=133): American Lung Association Asthma Clinical Research Center (ALA-ACRC)-supported trials, the Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol Trial (LOCCS) and Effectiveness of Low Dose Theophylline as Add On Therapy for the Treatment of Asthma (LODO) trials. Replication cohort (N=184): Childhood Asthma Research and Education (CARE) Network- Characterizing the Response to a LT Receptor Antagonist and an Inhaled Corticosteroid and Pediatric Asthma Controller Trial (CLIC and PACT).","sentence":"Allele T is associated with increased response to montelukast in people with Asthma as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165148,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to metformin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6171340","article_title":"Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy","article_path":"articles/PMC6171340.md","variant_annotation_id":1451134040,"variant_haplotypes":"rs61734410","gene":"CACNA1H","drugs":"ethosuximide","pmid":28165634,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by minor allele (T) frequency in not\u2013seizure\u2010free vs seizure-free children.","sentence":"Allele T is associated with decreased clinical benefit to ethosuximide in children with Epilepsy as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Efficacy:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245456,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"aspirin, clopidogrel","pmid":21392617,"phenotype_category":"Efficacy","significance":"yes","notes":"These patients had coronary arterial stenting. The comparison was that ADP-induced ex vivo platelet aggregation was higher in (AA + AG) compared to GG, but the template does not accommodate this. *2 SNP. [stat_test: chi-square]","sentence":"Allele A is associated with decreased response to aspirin and clopidogrel in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2641037","article_title":"Absorption of Montelukast is Transporter Mediated: a Common Variant of OATP2B1 is Associated with Reduced Plasma Concentrations and Poor Response","article_path":"articles/PMC2641037.md","variant_annotation_id":699642204,"variant_haplotypes":"rs12422149","gene":"SLCO2B1","drugs":"montelukast","pmid":19151602,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":"It's also associated with significantly reduced plasma concentration of monteleukast.","sentence":"Genotype AG is associated with decreased response to montelukast in people with Asthma as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896031,"variant_haplotypes":"rs1438692","gene":"AFAP1L1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9841299","article_title":"Impact of NFIB and CYP1A variants on clozapine serum concentration\u2014A retrospective naturalistic cohort study on 526 patients with known smoking habits","article_path":"articles/PMC9841299.md","variant_annotation_id":1451893991,"variant_haplotypes":"rs2472297","gene":"CYP1A1","drugs":"clozapine","pmid":36152308,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes","sentence":"Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine in people with Tobacco Use Disorder as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612414,"variant_haplotypes":"rs17143212","gene":"ABCB5","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele T is not associated with clearance of talinolol in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":1448634923,"variant_haplotypes":"rs255100","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with decreased response to salbutamol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928193,"variant_haplotypes":"rs1799978","gene":"DRD2","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5192124","article_title":"Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals","article_path":"articles/PMC5192124.md","variant_annotation_id":1448423597,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"rilpivirine","pmid":27799217,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of rilpivirine in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934461,"variant_haplotypes":"rs869312146","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Met187Ile in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8238023","article_title":"Novel associations between CYP2B6 polymorphisms, perioperative methadone metabolism and clinical outcomes in children","article_path":"articles/PMC8238023.md","variant_annotation_id":1451477260,"variant_haplotypes":"CYP2B6*6","gene":"CYP2B6","drugs":"methadone","pmid":34100292,"phenotype_category":"Toxicity","significance":"not stated","notes":"prospective study of methadone in children undergoing major surgery. \"CYP2B6 poor metabolizers (*6/*6) had >twofold lower R- and S-methadone metabolites to methadone ratio compared with normal and rapid metabolizers in adolescents who received multiple doses of methadone intraoperatively and postoperatively. \"","sentence":"CYP2B6 *6/*6 is associated with decreased metabolism of methadone in children with Pain, Postoperative and Scoliosis.","alleles":"*6/*6","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"\"Other:Pain, Postoperative\", \"Other:Scoliosis\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10278212","article_title":"The Impact of Single Nucleotide Polymorphisms on the Pharmacokinetics of Tacrolimus in Kidney Allograft Recipients of Northern-West, Iran","article_path":"articles/PMC10278212.md","variant_annotation_id":1452140060,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":37342387,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. There were no *1/*1 (TT) observed. \" There was a significant difference when C/D ratios of homozygote CYP3A5 *3/*3 carriers were compared between 2 and 8 weeks\"","sentence":"Genotype CT is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4636889","article_title":"Polymorphisms within the human leucocyte antigen-E gene and their associations with susceptibility to rheumatoid arthritis as well as clinical outcome of anti-tumour necrosis factor therapy","article_path":"articles/PMC4636889.md","variant_annotation_id":1447947763,"variant_haplotypes":"rs1059150","gene":"ATP5F1E","drugs":"adalimumab, certolizumab pegol, etanercept, glucocorticoids, infliximab, methotrexate","pmid":26307125,"phenotype_category":"Efficacy","significance":"yes","notes":"Response measured after 12 weeks of treatment. Alleles described as HLA-E *01:01 and *01:03.","sentence":"Genotype GG is associated with decreased response to adalimumab, certolizumab pegol, etanercept, glucocorticoids, infliximab or methotrexate in women with Arthritis, Rheumatoid as compared to genotype TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10666731","article_title":"CYP2C19*17 association with higher plasma 4-hydroxy tamoxifen in Pakistani (estrogen-positive) breast cancer patients","article_path":"articles/PMC10666731.md","variant_annotation_id":1452232920,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"4-hydroxytamoxifen","pmid":37688505,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For the CYP2C19*17 locus, the median total metabolic ratio of 4-OH-Tam (TMR-4-OH-Tam) was significantly higher in the heterozygous (187.91) (P < 0.001) and mutant (210.90) (P < 0.001) genotypes, compared to the wild-type (122.46) genotypes (Table 4 and Figure 6(A)).\"","sentence":"CYP2C19 *1/*17 + *17/*17 is associated with increased concentrations of 4-hydroxytamoxifen in people with Breast Neoplasms as compared to CYP2C19 *1/*1.","alleles":"*1/*17 + *17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11435314","article_title":"An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers","article_path":"articles/PMC11435314.md","variant_annotation_id":1452617180,"variant_haplotypes":"CYP3A4 intermediate metabolizer","gene":"CYP3A4","drugs":"fesoterodine","pmid":39338398,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The CYP3A4 IMs showed a lower AUC/DW (puv = 0.046; \u03b2 = \u22120.272, R2 =0.410, pmv = 0.047) and higher CL/F (puv = 0.044; \u03b2 = 0.275, R2 =0.409, pmv = 0.045) than the NMs (Table 3).\" The 10 SNPs for CYP3A4 measured are listed in table 5.","sentence":"CYP3A4 intermediate metabolizer is associated with increased clearance of fesoterodine in healthy individuals as compared to CYP3A4 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449166160,"variant_haplotypes":"rs11942223","gene":"SLC2A9","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of allopurinol in people with Gout as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4137828","article_title":"Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients","article_path":"articles/PMC4137828.md","variant_annotation_id":1184470883,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":24528196,"phenotype_category":"Dosage","significance":"yes","notes":"3 to 12 months post-transplant. Using chi-squared analysis.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC9501307","article_title":"Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis","article_path":"articles/PMC9501307.md","variant_annotation_id":1451894460,"variant_haplotypes":"rs4845625","gene":"IL6R","drugs":"tocilizumab","pmid":36145690,"phenotype_category":"Efficacy","significance":"yes","notes":"Response measured using Disease activity score including 28 joints (DAS28), a satisfactory European League Against Rheumatism (EULAR) response, and low disease activity (LDA) achievement.","sentence":"Genotypes CT + TT is associated with increased response to tocilizumab in people with Arthritis, Rheumatoid as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4300289","article_title":"Associations of OPRM1 A118G and Alcohol Sensitivity with Intravenous Alcohol Self-Administration in Young Adults","article_path":"articles/PMC4300289.md","variant_annotation_id":1184748428,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":25039301,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Individuals with the AG or GG genotype achieved significantly higher mean peak breath alcohol concentration as compared to those with the AA genotype. Those with the AG or GG genotype also showed significantly more post-priming drink requests compared to those with the AA genotype. Genotype accounted for 8% of the variance in peak breath alcohol concentration. Participants self-administered alcohol intravenously (6% ethanol solution) over a period of 2 hours.","sentence":"Genotypes AG + GG is associated with increased concentrations of ethanol in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374130,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no significant association between this variant and cessation of opioid use.","sentence":"Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5768901","article_title":"Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR","article_path":"articles/PMC5768901.md","variant_annotation_id":1449192662,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, tezacaftor","pmid":28930490,"phenotype_category":"Efficacy","significance":"yes","notes":"F508del allele. Study has multiple phases - a tezacaftor dose escalation phase and an efficacy testing phase using 100mg tezacaftor and 150mg ivacaftor. Significant improvements in sweat chloride level, ppFEV1 and CFQ-R scores were observed in the dose escalation phase however only sweat chloride levels showed a significant improvement in the efficacy testing phase.","sentence":"Genotype del/del is associated with response to ivacaftor and tezacaftor in people with Cystic Fibrosis.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11552228","article_title":"CYP3A4*1B and CYP3A5*3 SNPs significantly impact the response of Egyptian candidates to high-intensity statin therapy to atorvastatin","article_path":"articles/PMC11552228.md","variant_annotation_id":1452706160,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"atorvastatin","pmid":39523378,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Atorvastatin plasma levels (in ng/ml) were greater in carriers of the T/T genotype than in carriers of the other genotypes (C/T) and (C/C) (P value\u2009<\u20090.05). The plasma levels were 7.59\u2009\u00b1\u20092.69 for the T/T genotype and 3.39\u2009\u00b1\u20091.03 and 3.08\u2009\u00b1\u20090.82 for the C/T and C/C genotypes, respectively (Table 5).\"","sentence":"Genotype TT is associated with increased concentrations of atorvastatin in people with Cardiovascular Disease or Hyperlipidemias as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease, Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695427,"variant_haplotypes":"rs1800497","gene":"ANKK1","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340046,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 18.1mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6960206","article_title":"Nephrotoxicity in a Patient With Inadequate Pain Control: Potential Role of Pharmacogenetic Testing for Cytochrome P450 2D6 and Apolipoprotein L1","article_path":"articles/PMC6960206.md","variant_annotation_id":1451141860,"variant_haplotypes":"CYP2D6*5, CYP2D6*17","gene":"CYP2D6","drugs":"hydrocodone, tramadol","pmid":31969823,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report of a patient with back pain who reported no analgesic effect of either hydrocodone or tramadol.","sentence":"CYP2D6 *5/*17 is associated with decreased response to hydrocodone or tramadol in women.","alleles":"*5/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11257390","article_title":"UGT1A4*3 polymorphism influences serum concentration and therapeutic effect of lamotrigine for epilepsy treatment: A meta-analysis","article_path":"articles/PMC11257390.md","variant_annotation_id":1452535905,"variant_haplotypes":"UGT1A4*3b","gene":"UGT1A4","drugs":"lamotrigine","pmid":39024362,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Only three studies [28, 29], involving 308 patients, reported the therapeutic efficacy of LTG based on UGT1A4*3 polymorphism. No statistical heterogeneity existed among the article results (I 2 = 0%). There was significant difference between individuals with TT genotype and the control group in the therapeutic effect of LTG (OR: 7.18, 95% [4.01, 12.83], P<0.00001) (Fig 4). The results indicated that the therapeutic effect of LTG with TT genotype was better than that with TG/GG.\" Mapped *3 to *3b since appears to be based on one SNP whereas 3a has 3 SNPs. *3b is rs2011425 G, with the reference T at that locus.","sentence":"UGT1A4 *3b is associated with decreased clinical benefit to lamotrigine.","alleles":"*3b","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3264276","article_title":"Influence of NAT2 Polymorphisms on Sulfamethoxazole Pharmacokinetics in Renal Transplant Recipients","article_path":"articles/PMC3264276.md","variant_annotation_id":981477848,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*16","gene":"NAT2","drugs":"sulfamethoxazole","pmid":22106207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As measured by plasma sulfamethoxazole AUC 0-24. Originally annotated as \"compared to NAT2 *5D/*6B + *6B/*6B + *6B/*7A + *7A/*7A (assigned as slow acetylator phenotype)\". Please note; this was combined analysis of rapid acetylators vs slow acetylators. Slow acetylators; genotype *5/*6, *6/*6, *6/*7, *7/*7). Rapid acetylators; genotype *4/*4. There was no significant difference with intermediate acetylators. Genotyped 3 SNPs; *5 (T341C, rs1801280), *6 (G590A, rs1799930), *7 (G857A, rs1799931).; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles in this annotation are mapped as following: NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *4/*4 (assigned as rapid acetylator phenotype) is associated with increased metabolism of sulfamethoxazole in people with Kidney Transplantation as compared to NAT2 *16/*6 + *6/*6 + *6/*7 + *7/*7 (assigned as slow acetylator phenotype) .","alleles":"*4/*4","specialty_population":null,"metabolizer_types":"rapid acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*16/*6 + *6/*6 + *6/*7 + *7/*7","comparison_metabolizer_types":"slow acetylator"} -{"pmcid":"PMC4220464","article_title":"Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins","article_path":"articles/PMC4220464.md","variant_annotation_id":1184997420,"variant_haplotypes":"rs10455872","gene":"LPA","drugs":"hmg coa reductase inhibitors","pmid":25350695,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of this variant respond to statins with a 5.9% smaller LDL-C lowering per minor allele compared with non-carriers.","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483665,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":"This association was found in patients already stratified for rs4149056 genotype.","sentence":"Allele A is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7398416","article_title":"Pharmacogenetic interactions between antiretroviral drugs and vaginally-administered hormonal contraceptives","article_path":"articles/PMC7398416.md","variant_annotation_id":1451131980,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":32106141,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Analysis was done as CYP2B6 slow metabolizer genotypes grouping (15582CC-516TT-983TT; 9: 15582CC-516GT- 983CT; or 10: 15582CC-516GG-983CC), which were associated with higher plasma efavirenz log10 AUC0\u20138 hours, log10 maximum concentration (Cmax), and log10 minimum concentration (Cmin) values at days 0 and 21.","sentence":"Genotype TT is associated with decreased metabolism of efavirenz in women with HIV Infections as compared to genotype GG.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104961,"variant_haplotypes":"rs1718119","gene":"P2RX7","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310690,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3637851","article_title":"A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer","article_path":"articles/PMC3637851.md","variant_annotation_id":1043858728,"variant_haplotypes":"rs3787554","gene":"CYP24A1","drugs":"calcitriol, cisplatin, docetaxel","pmid":23435876,"phenotype_category":"Efficacy","significance":"no","notes":"No association was seen with overall survival or progression-free survival. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele G is not associated with response to calcitriol, cisplatin and docetaxel in people with Carcinoma, Non-Small-Cell Lung as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511084,"variant_haplotypes":"rs7643645","gene":"NR1I2","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of AA, AG and GG did not influence donepezil clearance in a covariate model.","sentence":"Genotype AA is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4338734","article_title":"Large\u2010Scale Gene\u2010Centric Analysis Identifies Polymorphisms for Resistant Hypertension","article_path":"articles/PMC4338734.md","variant_annotation_id":1446908047,"variant_haplotypes":"rs12817819","gene":"ATP2B1","drugs":"Antihypertensives","pmid":25385345,"phenotype_category":"Efficacy","significance":"yes","notes":"45,573 SNPs included in association analysis with resistant hypertension (RHTN) in European Americans and Hispanics from the INVEST cohort. Statistical threshold of p=2.6 x 10^-6 used. No SNP achieved this threshold, but the top signal from a meta-analysis of the European American and Hispanic INVEST cohorts was rs12817819. There was a 57% to 76% increase in risk for RHTN for each additional copy of the T allele. To replicate this association, it was tested in a different cohort (Women's Ischemia Syndrome Evaluation (WISE)); there was a consistent trend for this SNP and RHTN, though it did not achieve statistical significance. However, chip-wide significance was achieved in a meta-analysis of both INVEST cohorts and the WISE cohort. No evidence of heterogeneity was seen across the 3 studies. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with increased resistance to Antihypertensives in people with Coronary Artery Disease or Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease, Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501880,"variant_haplotypes":"rs3814055","gene":"NR1I2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Allele T is associated with decreased clearance of carbamazepine in people with Epilepsy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694650,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"no","notes":"158/220 patients had the target INR (1.5\u20132.5). The comparison of weekly warfarin maintenance dose was among patients of different genotypes. Differences in maintenance dose were not observed in patients with variant genotypes of GGCX rs699664.","sentence":"Genotypes CT + TT are not associated with dose of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767357,"variant_haplotypes":"rs142155704","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2680291","article_title":"Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms","article_path":"articles/PMC2680291.md","variant_annotation_id":981477489,"variant_haplotypes":"rs2372536","gene":"ATIC","drugs":"methotrexate","pmid":19016697,"phenotype_category":"Efficacy","significance":"no","notes":"250 responders; 80 non-responders. Bonferroni-corrected p > 0.05","sentence":"Allele C is not associated with response to methotrexate in people with Psoriasis as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7302666","article_title":"Genetic variants in NECTIN4 encoding an adhesion molecule are associated with continued opioid use","article_path":"articles/PMC7302666.md","variant_annotation_id":1451356341,"variant_haplotypes":"rs11265549","gene":"NECTIN4","drugs":"methadone","pmid":32555608,"phenotype_category":"Dosage","significance":"yes","notes":"rs11265549 was found to be in high linkage disequilibrium with rs3892375 and rs12116949 and was selected to be the tag SNP for all three variants.","sentence":"Genotype AA is associated with decreased dose of methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5726942","article_title":"Race/ethnicity difference in the pharmacogenetics of bilirubin-related atazanavir discontinuation","article_path":"articles/PMC5726942.md","variant_annotation_id":1449154896,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"atazanavir","pmid":29117017,"phenotype_category":"Toxicity","significance":"no","notes":"risk to for bilirubin-related atazanavir discontinuation","sentence":"Genotype TT is not associated with increased discontinuation of atazanavir as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896179,"variant_haplotypes":"rs74378198","gene":"OSMR","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4307337","article_title":"Capability of Utilizing CYP3A5 Polymorphisms to Predict Therapeutic Dosage of Tacrolimus at Early Stage Post-Renal Transplantation","article_path":"articles/PMC4307337.md","variant_annotation_id":1444694293,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":25594874,"phenotype_category":"Dosage","significance":"yes","notes":"Those with the CT and TT genotypes (\"extensive metabolizers\") had a higher body weight-adjusted dose of tacrolimus on day 28 after transplant as compared to those with the CC genotype (\"poor metabolizers\"; p<0.001). However, no significant result was seen when considering trough concentrations (p=0.481). Additionally, in multiple linear regression analysis, CYP3A5 genotype was significantly associated with dose on days 14, 21 and 28 post-transplant. The contribution of CYP3A5 genotype increased from 7.2% on day 14 to 18.4% and 20.4% on days 21 and 28 respectively. Lastly, patients with the extensive metabolizer genotype had a lower achievement rate of trough concentrations in the target range on days 7 and 14 post-transplant (p=0.011 and p=0.001, respectively). More specifically, extensive metabolizers had trough concentrations lower than the target range on days 7 and 14.","sentence":"Genotypes CT + TT is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4433569","article_title":"Novel SNP in CYP2C9 is associated with changes in warfarin clearance and CYP2C9 expression levels in African Americans","article_path":"articles/PMC4433569.md","variant_annotation_id":1444608095,"variant_haplotypes":"rs7089580","gene":"CYP2C9","drugs":"warfarin","pmid":25499099,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AT is associated with increased dose of warfarin as compared to genotype AA.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648760,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Dosage","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs72552763 and rs34130495. No significant association between haplotypes and PCA doses of morphine.","sentence":"Allele A is not associated with dose of morphine in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359200,"variant_haplotypes":"rs12666409","gene":"DDC","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele A is not associated with response to heroin as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4600600","article_title":"Pharmacogenetics of Naltrexone And Disulfiram in Alcohol Dependent, Dually Diagnosed Veterans","article_path":"articles/PMC4600600.md","variant_annotation_id":1444700343,"variant_haplotypes":"rs1611115","gene":"DBH","drugs":"naltrexone","pmid":24724887,"phenotype_category":"Efficacy","significance":"yes","notes":"Veterans. Two-thirds had a lifetime history of major depressive disorder, 37% had a lifetime history of post-traumatic stress disorder. 65% took SSRIs and 39% took anticonvulsants. 84-day treatment period. Patients who carried the T allele had more abstinence from heavy drinking days as compared to those with the CC genotype. Note that heavy drinking days was defined as more than four standard drinks in a day.","sentence":"Genotypes CT + TT is associated with increased response to naltrexone in men with Alcoholism as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679387,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"esomeprazole, lansoprazole, omeprazole, rabeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*2 or *1/*3 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *2/*2, *2/*3 or *3/*3 genotype. This was a meta-analysis and included 16 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received antibiotics as part of triple therapy: either amoxicillin and clarithromycin, amoxicillin and metronidazole, or amoxicillin and levofloxacin.","sentence":"CYP2C19 *1/*2 + *1/*3 are associated with decreased response to esomeprazole, lansoprazole, omeprazole or rabeprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756011,"variant_haplotypes":"rs3759125","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3597465","article_title":"COMT Val158Met, BDNF Val66Met, and OPRM1 Asn40Asp and Methamphetamine Dependence Treatment Response: Preliminary Investigation","article_path":"articles/PMC3597465.md","variant_annotation_id":1450813982,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"modafinil","pmid":22217949,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and Treatment Effectiveness Scores following modafinil treatment compared to placebo.","sentence":"Allele G is not associated with response to modafinil in people with methamphetamine dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Methamphetamine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359336,"variant_haplotypes":"rs129882","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2650539","article_title":"CYP2B6 G516T Polymorphism but Not Rifampin Coadministration Influences Steady-State Pharmacokinetics of Efavirenz in Human Immunodeficiency Virus-Infected Patients in South India","article_path":"articles/PMC2650539.md","variant_annotation_id":1448997672,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":19124658,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3468617","article_title":"Combinatorial Pharmacogenetic Interactions of Bucindolol and \u03b21, \u03b12C Adrenergic Receptor Polymorphisms","article_path":"articles/PMC3468617.md","variant_annotation_id":982046368,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"bucindolol","pmid":23071495,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was mainly referred to as an Arg>Gly amino acid change at position 389, with the Arg amino acid resulting in better patient outcome. This study was interested in the effect of this SNP in tandem with rs61767072. Patients homozygous for the Arg amino acid showed significantly less occurrences of all cause mortality, cardiac transplant, or heart failure hospitalizations as compared to other patients. Patients carrying the Gly amino acid but were homozygous for the wildtype allele at rs61767072 responded worse than those that were homozygous for wildtype allele at this SNP, but much better than patients carrying the variant allele at both SNPs. Patients carrying the variant allele at both SNPs and were treated with bucindolol had worse outcomes than those that were given a placebo.","sentence":"Genotype CC is associated with increased response to bucindolol in people with Heart Failure as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6003833","article_title":"Allelic Variant in the Glucagon-Like Peptide 1 Receptor Gene Associated with Greater Effect of Liraglutide and Exenatide on Gastric Emptying: A Pilot Pharmacogenetics Study","article_path":"articles/PMC6003833.md","variant_annotation_id":1452878620,"variant_haplotypes":"rs6923761","gene":"GLP1R","drugs":"exenatide, liraglutide","pmid":29488276,"phenotype_category":"PD","significance":"no","notes":"\"A allele of GLP1R (rs6923761) is associated with a greater delay in gastric emptying in response to treatment with GLP-1 agonists.\"","sentence":"Genotypes AA + AG is associated with increased response to exenatide or liraglutide in people with Obesity as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Obesity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5808057","article_title":"No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA","article_path":"articles/PMC5808057.md","variant_annotation_id":1449160206,"variant_haplotypes":"rs47958","gene":"SLC6A2","drugs":"3,4-methylenedioxymethamphetamine","pmid":29198060,"phenotype_category":"Other","significance":"no","notes":null,"sentence":"Allele C is not associated with response to 3,4-methylenedioxymethamphetamine as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407529,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"not stated","notes":"Nominally significant difference in ischemic pain threshold between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotype AA is associated with decreased response to morphine in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164026,"variant_haplotypes":"rs4760658","gene":"VDR","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP is in very tight linkage disequilibrium with rs11168293 and rs11168292 (r2>0.97). Mean dose (in mg) of warfarin according to genotype was: GG>AG>AA. p-value adjusted for CYP2C9 metabolizer status and VKORC1 activity status phenotypes, among other factors. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Genotype GG is associated with increased dose of warfarin as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC1884261","article_title":"Disposition of debrisoquine and nortriptyline in Korean subjects in relation to CYP2D6 genotypes, and comparison with Caucasians","article_path":"articles/PMC1884261.md","variant_annotation_id":1183623172,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"debrisoquine","pmid":12814461,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was a difference found between AUC (0-8) of 4-hydroxydebrisoquine, which was significantly lower in *1/*10 than in *1/*1, but no other differences were found for debrisoquine and none were found for nortriptyline in this sample.","sentence":"CYP2D6 *1/*10 is associated with decreased metabolism of debrisoquine in healthy individuals as compared to CYP2D6 *1/*1.","alleles":"*1/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3582836","article_title":"Multiple regulatory variants modulate expression of 5-hydroxytryptamine 2A receptors in human cortex","article_path":"articles/PMC3582836.md","variant_annotation_id":981480012,"variant_haplotypes":"rs585719","gene":null,"drugs":"citalopram","pmid":23158458,"phenotype_category":"Efficacy","significance":"yes","notes":"This was only true in African Americans and was attributed to LD with rs76665058. No TT were seen in this cohort.","sentence":"Genotype CT is associated with increased response to citalopram in people with Depression as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701268,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP explained 30% (P = 9.82 x 10(-100)) of the variation in warfarin dose. The direction of the allele:dose relationship is not stated.","sentence":"Allele A is associated with dose of warfarin.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8182957","article_title":"Effects of rs958804 and rs7858836 single\u2010nucleotide polymorphisms of the ASTN2 gene on pain\u2010related phenotypes in patients who underwent laparoscopic colectomy and mandibular sagittal split ramus osteotomy","article_path":"articles/PMC8182957.md","variant_annotation_id":1451592449,"variant_haplotypes":"rs7858836","gene":"ASTN2","drugs":"fentanyl","pmid":33476460,"phenotype_category":"Dosage","significance":"yes","notes":"This variant was found to be in moderate LD with rs958804. p<0.025 was considered to be statistically significant.","sentence":"Genotypes CT + TT are associated with decreased dose of fentanyl in people with Pain, Postoperative as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622336,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in median 24 hour intragastric pH or serum gastrin area under the concentration-time curve from 0-24 hours (AUC0-24) were seen between the two genotype groups. Subjects were given rabeprazole for 8 days; 24 hour intragastric pH and serum gastrin AUC were measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 and *3 alleles were referred to by their previous designations (CYP2C19*m1 and *m2, respectively).","sentence":"CYP2C19 *1/*2 + *1/*3 is not associated with response to rabeprazole in healthy individuals as compared to CYP2C19 *2/*2.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003387,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: AG+GG 0.47 (0.09\u201319.88)) vs. AA 0.39 (0.12\u201341.63)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes AG + GG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567928,"variant_haplotypes":"rs1800896","gene":"IL10","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CC genotype had a 24% higher mean sirolimus log-transformed dose-adjusted trough concentrations (C/D) as compared to those with the CT or TT genotype. Multivariate analysis. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC are associated with increased dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756068,"variant_haplotypes":"rs1516400","gene":"AQP9","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4023787","article_title":"CYP2B6 18492T\u2192C Polymorphism Compromises Efavirenz Concentration in Coinfected HIV and Tuberculosis Patients Carrying CYP2B6 Haplotype *1/*1","article_path":"articles/PMC4023787.md","variant_annotation_id":1184467305,"variant_haplotypes":"rs2279345","gene":"CYP2B6","drugs":"efavirenz","pmid":24492364,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significantly lower efavirenz plasma levels were observed in patients with the CT genotype compared to TT only at 24 weeks (after rifampin discontinuation). All patients had the CYP2B6*1/*1 haplotype (as determined by 7 SNPs) before being assessed by this SNP. Please note; this SNP was described as 18492T>C (and previous studies by this group provided the rsID). Multivariate analysis of efavirenz plasma levels at weeks 12 and 24 of treatment showed that this SNP significantly contributed with the C allele was associated with decreased efavirenz plasma concentrations (P at 12 week=0.004 and p at 24 week = 0.007).","sentence":"Genotype CT is associated with increased metabolism of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296716,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"only in African Americans, but not European Americans. However, the dose reduction per variant allele was higher among European Americans (2.3% vs 12.3%, interaction P value=0.006) compared with African Americans.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935734,"variant_haplotypes":"rs183701923","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the T allele was 1.6% of that of the WT protein. Variant referred to as 556C>T in the paper.","sentence":"Allele T is associated with decreased clearance of mephenytoin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4342329","article_title":"N-acetyltransferase 1 polymorphism increases cotinine levels in Caucasian children exposed to secondhand smoke: the CCAAPS birth cohort","article_path":"articles/PMC4342329.md","variant_annotation_id":1445296452,"variant_haplotypes":"rs13253389","gene":"NAT1","drugs":"cotinine","pmid":25156213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Cotinine is a proxy for secondhand smoke exposure. Children with the AG or GG genotypes who were exposed to secondhand smoke had two-fold higher hair cotinine as compared to those with the AA genotype. After adjustment for secondhand smoke dose. Using Bonferroni correction, associations were considered significant at p=0.000677.","sentence":"Genotypes AG + GG is associated with increased concentrations of cotinine in children as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114009,"variant_haplotypes":"rs2298896","gene":"OPRD1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747522,"variant_haplotypes":"rs1008899","gene":"NEDD4L","drugs":"atenolol","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to atenolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919880,"variant_haplotypes":"rs10433340","gene":"PARP14","drugs":"6-hydroxy s-warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"measured as increased S-6OH-warfarin and using a genome wide significance threshold of < 3.846 \u00d7 10\u22129.","sentence":"Allele A is associated with increased concentrations of 6-hydroxy s-warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820555,"variant_haplotypes":"rs3805715","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference was seen when considering RECIPIENT genotype at week 4 of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotype AA is not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4746878","article_title":"A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers","article_path":"articles/PMC4746878.md","variant_annotation_id":1451352892,"variant_haplotypes":"rs6280","gene":"DRD3","drugs":"atorvastatin","pmid":26857559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT are associated with increased concentrations of atorvastatin in healthy individuals as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10909096","article_title":"Association of Cytidine Deaminase Polymorphism with Capecitabine Effectiveness in Breast Cancer Patients","article_path":"articles/PMC10909096.md","variant_annotation_id":1452346540,"variant_haplotypes":"rs2072671","gene":"CDA","drugs":"capecitabine","pmid":38156857,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by estradiol E2 levels. \"Specifically, for rs2072671, the mutant (CC) has an; elevated estradiol level (mean +/- SD) of (41.01 \u00b1 10.78),; the heterozygous (AC) has a value of (53.98 \u00b1 10.96),; and the wild type (AA) has a value of (51.89 \u00b1 10.42),; with a statistically significant difference between the; three groups.\"","sentence":"Genotypes AA + AC is associated with decreased response to capecitabine in women with Breast Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11246689","article_title":"Genetic variants of ABCB1 and CES1 genes on dabigatran metabolism in the Kazakh population","article_path":"articles/PMC11246689.md","variant_annotation_id":1452535960,"variant_haplotypes":"rs8192935","gene":"CES1","drugs":"dabigatran","pmid":39011438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\" Individuals with the rs8192935 AA genotype had lower concentrations than those with the GG genotype (P = 0.001). \" \"Genetic variants of CES1 (rs8192935 and rs8192935) were significantly associated with minimal dabigatran concentrations in the additive and recessive models. \"","sentence":"Genotype GG is associated with increased concentrations of dabigatran in people with Atrial Fibrillation as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672820,"variant_haplotypes":"rs138978736","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is not associated with metabolism of nicotine as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356751,"variant_haplotypes":"rs1800872","gene":"IL10","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121027,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to oxycodone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4702374","article_title":"A multi-factorial analysis of response to warfarin in a UK prospective cohort","article_path":"articles/PMC4702374.md","variant_annotation_id":1447680551,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":26739746,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"CYP2C9 *2 + *3 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2709885","article_title":"Genetic variation of CYP2C19 affects both pharmacokinetic and pharmacodynamic responses to clopidogrel but not prasugrel in aspirin-treated patients with coronary artery disease","article_path":"articles/PMC2709885.md","variant_annotation_id":1184469900,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17","gene":"CYP2C19","drugs":"prasugrel","pmid":19429918,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"Patients were also treated with aspirin. There were 35 EM (by genotype) and 15 PM (by genotype). Dosage was 60 mg loading/10 mg maintenance.","sentence":"CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is not associated with metabolism of prasugrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*8 + *2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC6542461","article_title":"Effect of CYP4F2, VKORC1, and CYP2C9 in Influencing Coumarin Dose: A Single-Patient Data Meta-Analysis in More Than 15,000 Individuals","article_path":"articles/PMC6542461.md","variant_annotation_id":1450186421,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"acenocoumarol, warfarin","pmid":30506689,"phenotype_category":"Dosage","significance":"yes","notes":"The meta-analysis showed that this variant (CYP4F2*3) was consistently associated with an increase in mean coumarin dose (+9% (95%CI 7-10%), with a higher effect in females, in patients taking acenocoumarol and in Whites and Asians, but with a low effect size and not in Blacks or other ethnic groups.","sentence":"Genotypes CT + TT are associated with increased dose of acenocoumarol or warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3947488","article_title":"Factors Associated with Variability in Rifampin Plasma Pharmacokinetics and the Relationship between Rifampin Concentrations and Induction of Efavirenz Clearance","article_path":"articles/PMC3947488.md","variant_annotation_id":1183704875,"variant_haplotypes":"rs11045819","gene":"SLCO1B1","drugs":"rifampin","pmid":24420746,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Lower Cmax concentrations of rifampin were observed in individuals with the AC genotype.","sentence":"Genotype AC is associated with increased clearance of rifampin in healthy individuals as compared to genotype CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5980466","article_title":"Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation","article_path":"articles/PMC5980466.md","variant_annotation_id":1449191984,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"apixaban","pmid":29457840,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of apixaban in people with Atrial Fibrillation as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170905,"variant_haplotypes":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C9","drugs":"N-desmethyltamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767254,"variant_haplotypes":"rs62360865","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5726942","article_title":"Race/ethnicity difference in the pharmacogenetics of bilirubin-related atazanavir discontinuation","article_path":"articles/PMC5726942.md","variant_annotation_id":1449154902,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"atazanavir","pmid":29117017,"phenotype_category":"Toxicity","significance":"no","notes":"Risk to for bilirubin-related atazanavir discontinuation.","sentence":"Genotype CT is not associated with increased discontinuation of atazanavir as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359140,"variant_haplotypes":"rs27072","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele T is not associated with response to heroin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6037621","article_title":"A genome-wide association study identifies a candidate gene associated with atazanavir exposure measured in hair","article_path":"articles/PMC6037621.md","variant_annotation_id":1450042840,"variant_haplotypes":"rs73208473","gene":"SORCS2","drugs":"atazanavir","pmid":29315502,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"each copy of the rs73208473 minor \u201cA\u201d allele was associated with a 46%; decrease in ATV levels (95% confidence interval (CI) 0.35\u20130.61).\" rs73208473 is relatively common, with allele frequencies of 0.118, 0.319, and 0.119 in the AA, WT, and HIS participants. The association with ATV exposure is stronger in white patients as compared to African American and Hispanic patients.","sentence":"Allele A is associated with decreased exposure to atazanavir in women with HIV Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694676,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"no","notes":"158/220 patients had the target INR (1.5\u20132.5). The comparison of weekly warfarin maintenance dose was significantly different among patients of different genotypes: GGCX rs7294 (CC 19.40\u00b15.75 mg/w vs CT 27.87\u00b18.80 mg/w p < 0.001 ANOVA). The allele was not significantly associated with weekly maintenance dose when analyzed in multiple linear regression analysis, however.","sentence":"Genotype CC is not associated with dose of warfarin in people with heart valve replacement as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2966981","article_title":"Effect of gene polymorphisms on the levels of calcineurin inhibitors in Indian renal transplant recipients","article_path":"articles/PMC2966981.md","variant_annotation_id":1184514516,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21072155,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median L/D ratio for tacrolimus was higher in subjects with CYP3A5*3/*3 than in subjects with CYP3A5*1 carriers at 6th day post-transplantation..","sentence":"Allele C is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4527535","article_title":"Multigene predictors of tacrolimus exposure in kidney transplant recipients","article_path":"articles/PMC4527535.md","variant_annotation_id":1444934267,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26067485,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"One CYP3A5*1 allele reduced trough concentrations of tacrolimus by 34.8%, and two *1 alleles were associated with a 57.5% reduction. n=35,043 tacrolimus trough concentrations were available for analysis.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359324,"variant_haplotypes":"rs27072","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4425056","article_title":"APOE Polymorphisms Contribute to Reduced Atorvastatin Response in Chilean Amerindian Subjects","article_path":"articles/PMC4425056.md","variant_annotation_id":1447677505,"variant_haplotypes":"rs5925","gene":"LDLR","drugs":"atorvastatin","pmid":25860945,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype CC is not associated with response to atorvastatin in people with Hypercholesterolemia as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4425504","article_title":"Association between Polymorphisms in Vascular Endothelial Growth Factor Gene and Response to Chemotherapies in Colorectal Cancer: A Meta-Analysis","article_path":"articles/PMC4425504.md","variant_annotation_id":1444842369,"variant_haplotypes":"rs3025039","gene":"VEGFA","drugs":"bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin","pmid":25955730,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to treatment was determined by RECIST criteria.","sentence":"Genotype TT is associated with decreased response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5342450","article_title":"Pharmacogenomics of platinum-based chemotherapy response in NSCLC: a genotyping study and a pooled analysis","article_path":"articles/PMC5342450.md","variant_annotation_id":1448123636,"variant_haplotypes":"rs861539","gene":"XRCC3","drugs":"Platinum compounds","pmid":27248474,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CC genotype of XRCC3 C18067T carriers showed more resistance to platinum-based chemotherapy when compared to those with CT or TT genotypes.\"","sentence":"Genotypes AA + AG are associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629548,"variant_haplotypes":"CYP2D6*4, CYP2D6*5","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 8 of these 46 were *4/*5.","sentence":"CYP2D6 *4/*5 is associated with decreased metabolism of debrisoquine or dextromethorphan.","alleles":"*4/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8841435","article_title":"Pharmacogenomics of celiprolol \u2013 evidence for a role of P\u2010glycoprotein and organic anion transporting polypeptide 1A2 in celiprolol pharmacokinetics","article_path":"articles/PMC8841435.md","variant_annotation_id":1451548140,"variant_haplotypes":"rs11568563","gene":"SLCO1A2","drugs":"celiprolol","pmid":34585840,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"the AUC0-infinity values were 25% smaller (p < 5 \u00d7 10\u22124) per copy of the SLCO1A2 c.516A>C minor allele\". Alleles complemented to plus chromosomal strand.","sentence":"Allele G is associated with decreased concentrations of Celiprolol in healthy individuals as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11159294","article_title":"Role of UGT1A1*6, UGT1A1*28 and ABCG2 c.421C>A polymorphisms in irinotecan\u2010induced neutropenia in Asian cancer patients","article_path":"articles/PMC11159294.md","variant_annotation_id":981747792,"variant_haplotypes":"rs4148323","gene":"UGT1A1","drugs":"SN-38","pmid":17627617,"phenotype_category":"Dosage","significance":"yes","notes":"This refers to reduced metabolism of the SN-38 metabolite into the inactive SN-38G form by UGT1A1. Patients homozygous for the A allele had increased exposure to SN-38, increased biliary index values and decreased relative extent of glucuronidation (please see study parameters for further description of these measurements). Irinotecan was given once every three weeks in a 375 mg/m2 dose, and neoplasms included nasopharyngeal carcinoma (n=1), gastrointestinal (n=35), genitourinary (n=2), non-small-cell lung cancer (n=5) and miscellaneous (n=2).","sentence":"Genotype AA is associated with decreased metabolism of SN-38 in people with Neoplasms as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715433,"variant_haplotypes":"rs7439366","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"yes","notes":"There was a significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Genotype TT is associated with decreased response to fentanyl in people with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC11754044","article_title":"UGT2B15 single nucleotide polymorphism reduces dabigatran acylglucuronide formation in humans","article_path":"articles/PMC11754044.md","variant_annotation_id":1452825760,"variant_haplotypes":"rs1902023","gene":"UGT2B15","drugs":"dabigatran glucuronide","pmid":39850575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"The m/p ratios for both Cmax and AUCall were significantly higher in the GG and GT genotypes than in the TT genotype (Table 2; Figure 3), indicating more efficient conversion of DAB to its acylglucuronide form in the GG and GT genotypes. Conversely, the reduced m/p ratio among individuals with the TT genotype suggests that this polymorphism impairs the conversion of DAB to its acylglucuronide form, further confirming the role of UGT2B15 in DAB metabolism.\"","sentence":"Genotype AA is associated with decreased concentrations of dabigatran glucuronide in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1451928680,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"and lower Cmax and higher tmax were significant and Cmax remained significant after Bonferroni. Authors state \"SLC22A1 rs34059508 genotype (*1/*1 equals to G/G, *1/*5 equals to G/A).","sentence":"Genotype AG is associated with increased clearance of rasagiline in healthy individuals as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":827784987,"variant_haplotypes":"rs2071427","gene":"NR1D1, THRA","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"yes","notes":"This result is for the combination of this SNP with; rs6438552 GG. People with this genotype combination had a 75% chance of being in the Li-responsive group. People with rs2071427 CC/rs6438552 AA had a 44% response rate. Those with 2 or 3 favorable alleles had responses on a gradient between these two results.","sentence":"Genotype TT is associated with increased response to lithium in people with Bipolar Disorder.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589825,"variant_haplotypes":"rs17708472","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371807,"variant_haplotypes":"CYP3A5 intermediate metabolizers","gene":"CYP3A5","drugs":"maraviroc","pmid":30192390,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In study A4001110, black CYP3A5 intermediate metabolizers had a significant increase in average maraviroc plasma concentrations compared to black extensive metabolizers. The authors determined this difference in maraviroc concentrations to not be clinically significant.","sentence":"CYP3A5 intermediate metabolizer is associated with increased concentrations of maraviroc in people with HIV Infections as compared to CYP3A5 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5817390","article_title":"An integrated pharmacokinetic/pharmacogenomic analysis of ABCB1 and SLCO1B1 polymorphisms on edoxaban exposure","article_path":"articles/PMC5817390.md","variant_annotation_id":1448525859,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"edoxaban","pmid":27897269,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in total plasma exposure (AUCinf), peak plasma exposure (Cmax), trough concentrations (C24), plasma exposure from the time of dosing to the last measurable concentration (AUClast), or plasma exposure up to 24 hours after dosing (AUC0-24) were seen between any of the genotypes. This indicates that this SNP \"does not significantly affect edoxaban exposure\".","sentence":"Genotype AA is not associated with exposure to edoxaban in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6612579","article_title":"Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome\u2010Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2","article_path":"articles/PMC6612579.md","variant_annotation_id":1450807038,"variant_haplotypes":"rs11648166","gene":null,"drugs":"anastrozole","pmid":30648747,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The minor allele of this variant was associated with increased plasma concentrations of anastrozole in postmenopausal women with ER+ breast cancer.","sentence":"Allele G is associated with increased concentrations of anastrozole in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823858,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"no association with PK parameters area under the concentration time curve or apparent oral clearance of the drug. [stat_test: univariate and multiple linear regression]","sentence":"Genotypes CT + TT are not associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4154311","article_title":"A randomized placebo-controlled trial of ataluren for the treatment of nonsense mutation cystic fibrosis","article_path":"articles/PMC4154311.md","variant_annotation_id":1447952408,"variant_haplotypes":"rs113993959","gene":"CFTR","drugs":"ataluren","pmid":24836205,"phenotype_category":"Efficacy","significance":"no","notes":"Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.","sentence":"Allele T is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864047,"variant_haplotypes":"rs1024323","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"yes","notes":"This was an additive effect - patients with the CT genotype had a worse response compared to those with TT but better response compared to those with CC. Using Cox analysis, this was shown to only be significant in men who were also heterozygous or homozygous for the rs2960306 allele T (Leu65) and was not seen in men homozygous for rs2960306 allele G (Arg65). Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotype CC is associated with decreased response to metoprolol in men with hypertensive nephrosclerosis as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2857717","article_title":"The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation","article_path":"articles/PMC2857717.md","variant_annotation_id":608178665,"variant_haplotypes":"rs909706","gene":"DTNBP1","drugs":"haloperidol","pmid":19369910,"phenotype_category":"Efficacy","significance":"no","notes":"[Drug: clozapine]","sentence":"Genotype CT is associated with increased response to haloperidol in people with Schizophrenia as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2794198","article_title":"TPMT Genetic Variations in Populations of the Russian Federation","article_path":"articles/PMC2794198.md","variant_annotation_id":1184134324,"variant_haplotypes":"TPMT*1, TPMT*2, TPMT*3A, TPMT*3C","gene":"TPMT","drugs":"methotrexate, purine analogues","pmid":19034904,"phenotype_category":"Efficacy","significance":"no","notes":"Event Free Survival: 90% for heterozygotes;83% for *1/*1 at median followup of 31.3 months (range 4-163 months). The assay used detects *2,*3A,*3B,*3C,*3D,*7 and *8. Treatment protocol ALL BFM-90 or ALL MB-91/2002 was followed. In the group of pediatric cancer patients (a superset of the ALL patients), frequencies of the total number of \"variant\" alleles were: *2: 6.1%; *3A: 81.8%; *3C: 12.1% .","sentence":"TPMT *1/*2 + *1/*3A + *1/*3C is not associated with response to methotrexate and purine analogues in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*2 + *1/*3A + *1/*3C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672964,"variant_haplotypes":"rs1303839356","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3872414","article_title":"Polymorphisms of MTHFR Associated with Higher Relapse/Death Ratio and Delayed Weekly MTX Administration in Pediatric Lymphoid Malignancies","article_path":"articles/PMC3872414.md","variant_annotation_id":1451506520,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":24386571,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in relapse-free survival between genotype groups. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to methotrexate in children with Lymphoma, Non-Hodgkin or Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma, Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114002,"variant_haplotypes":"rs1042114","gene":"OPRD1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567649,"variant_haplotypes":"rs2069514","gene":"CYP1A2","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype GG are associated with decreased dose of warfarin in people with heart valve replacement as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3846997","article_title":"A polymorphism in the histone deacetylase 1 gene is associated with the response to corticosteroids in asthmatics","article_path":"articles/PMC3846997.md","variant_annotation_id":1184514486,"variant_haplotypes":"rs1741981","gene":"HDAC1","drugs":"corticosteroids","pmid":24307847,"phenotype_category":"Efficacy","significance":"yes","notes":"Children with the CC genotype showed significantly lower percent forced expiratory volume in 1 second (%FEV1) increases in response to inhaled corticosteroids, as compared to those with the CT or TT genotype. Patients were treated for 8 weeks. Note that this allele was significantly related to asthma severity (same direction of association; corrected p=0.036).","sentence":"Genotype CC is associated with decreased response to corticosteroids in children with Asthma as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4490522","article_title":"Pharmacogenomics of Methotrexate Membrane Transport Pathway: Can Clinical Response to Methotrexate in Rheumatoid Arthritis Be Predicted?","article_path":"articles/PMC4490522.md","variant_annotation_id":1444843366,"variant_haplotypes":"rs3784864","gene":"ABCC1","drugs":"methotrexate","pmid":26086825,"phenotype_category":"Efficacy","significance":"yes","notes":"ABCC1 rs3784864 G carrier is associated with increased risk of non-response to methotrexate.","sentence":"Genotypes AG + GG are associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452241174,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by shorter onset time. \"In our study, homozygosity for the A allele (AA) was more quickly to arrive at the desired sedation status than carriers of the G allele (AG/GG) (18.55 \u00b1 7.65 vs. 24.63 \u00b1 18.94, p = 0.031). This means that homozygosity for the major allele A) of ADRB2 rs1042713 was associated with a higher susceptibility to DXM\u2019s efficacy.\"","sentence":"Genotype AA is associated with increased response to dexmedetomidine in people with surgery as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104832,"variant_haplotypes":"rs1835740","gene":null,"drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491224,"variant_haplotypes":"rs2134227","gene":"SV2C","drugs":"quetiapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype GG is not associated with response to quetiapine in people with Schizophrenia as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767319,"variant_haplotypes":"rs3008610","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele A is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8505452","article_title":"Genetic contributions to alcohol use disorder treatment outcomes: a genome-wide pharmacogenomics study","article_path":"articles/PMC8505452.md","variant_annotation_id":1451640200,"variant_haplotypes":"rs12749274","gene":null,"drugs":"naltrexone","pmid":34302059,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with an increased risk of relapse to heavy drinking in patients undergoing naltrexone treatment.","sentence":"Allele A is associated with decreased response to naltrexone in people with Alcoholism as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2042718","article_title":"A novel mutant variant of the CYP2D6 gene (CYP2D6 17) common in a black African population: association with diminished debrisoquine hydroxylase activity","article_path":"articles/PMC2042718.md","variant_annotation_id":1447990832,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*17","gene":"CYP2D6","drugs":"debrisoquine","pmid":8971426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"MR of was higher for *17/*17 (n=10) mean value 3.94 as compared to *1/*17 (n=23) mean value 1.45 (p<0.001) or compared to mean MR values *1/*1(n=12) =0.56 or *1/*2 (n=13)=0.59 (both p<0.001).","sentence":"CYP2D6 *17/*17 is associated with decreased metabolism of debrisoquine in healthy individuals as compared to CYP2D6 *1/*1 + *1/*2 + *1/*17.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *1/*17","comparison_metabolizer_types":null} -{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682490,"variant_haplotypes":"rs8178822","gene":"APOH","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele G is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6767327","article_title":"Enantiospecific Pharmacogenomics of Fluvastatin","article_path":"articles/PMC6767327.md","variant_annotation_id":1450823509,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"fluvastatin","pmid":30989645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of 3R,5S-fluvastatin and total fluvastatin (but not 3S,5R-fluvastatin) in the candidate gene study.","sentence":"Allele C is associated with increased concentrations of fluvastatin in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162856,"variant_haplotypes":"rs3814057","gene":"NR1I2","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy SNP for rs2276707.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757003,"variant_haplotypes":"rs2290228","gene":"CALU","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558010,"variant_haplotypes":"rs4982133","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3415853","article_title":"Association of Polymorphisms of the Mu Opioid Receptor Gene with the Severity of HIV Infection and Response to HIV Treatment","article_path":"articles/PMC3415853.md","variant_annotation_id":1450814181,"variant_haplotypes":"rs671531","gene":"OPRM1","drugs":"highly active antiretroviral therapy (haart)","pmid":22457278,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype showed no decrease in viral load following the initiation of HAART, while patients with the AA or AG genotypes had a decrease in viral load. This association was only found in Hispanic patients.","sentence":"Genotype GG is associated with decreased response to highly active antiretroviral therapy (haart) in people with HIV Infections as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4043918","article_title":"The impact of age and CYP2C9 and VKORC1 variants on stable warfarin dose in the paediatric population","article_path":"articles/PMC4043918.md","variant_annotation_id":1185235716,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":24601977,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the TT genotype required 48% the dose of those with the CC genotype. VKORC1 genotype was found to account for 13% of the variability in stable warfarin dose (mg/day). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with decreased dose of warfarin in children as compared to genotype CC.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC1365130","article_title":"Cytochrome P4502D6 genotype does not determine response to clozapine","article_path":"articles/PMC1365130.md","variant_annotation_id":1183631242,"variant_haplotypes":"CYP2D6*1","gene":"CYP2D6","drugs":"clozapine","pmid":7640149,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2D6 genotype was not associated with clozapine metabolism.","sentence":"CYP2D6 *1 is not associated with metabolism of clozapine in people with Schizophrenia.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5727167","article_title":"Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population","article_path":"articles/PMC5727167.md","variant_annotation_id":1449157684,"variant_haplotypes":"rs1143672","gene":"SLC15A2","drugs":"warfarin","pmid":29234073,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6767327","article_title":"Enantiospecific Pharmacogenomics of Fluvastatin","article_path":"articles/PMC6767327.md","variant_annotation_id":1450823491,"variant_haplotypes":"rs58310495","gene":"SLCO1B1","drugs":"fluvastatin","pmid":30989645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of 3R,5S-fluvastatin, but not 3S,5R-fluvastatin. The AUC was 34% larger per copy of the variant allele. This variant is strongly linked with SLCO1B1 c.521T>C (r2=0.69).","sentence":"Allele T is associated with increased concentrations of fluvastatin in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5006145","article_title":"Impact of CYP2C9, VKORC1 and CYP4F2 genetic polymorphisms on maintenance warfarin dosage in Han-Chinese patients: A systematic review and meta-analysis","article_path":"articles/PMC5006145.md","variant_annotation_id":1449260681,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":27617219,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5543069","article_title":"Effect of carboxylesterase 1 S75N on clopidogrel therapy among acute coronary syndrome patients","article_path":"articles/PMC5543069.md","variant_annotation_id":1448640683,"variant_haplotypes":"rs2307240","gene":"CES1","drugs":"clopidogrel","pmid":28775293,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors investigated the association between genotypes and several clinical outcomes in patients with acute coronary syndrome who were also taking clopidogrel","sentence":"Genotypes CT + TT are associated with increased response to clopidogrel in people with Acute coronary syndrome as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Acute coronary syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2000640","article_title":"SLCO1B1 521T\u2192C functional genetic polymorphism and lipid-lowering efficacy of multiple-dose pravastatin in Chinese coronary heart disease patients","article_path":"articles/PMC2000640.md","variant_annotation_id":982043772,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"pravastatin","pmid":17439540,"phenotype_category":"Efficacy","significance":"yes","notes":"as determined by a smaller reduction in total cholesterol in patients with the CT genotype compared to the TT genotype. Changes in LDL-C, HDL-C and triglycerides were not significantly different.","sentence":"Genotype CT is associated with decreased response to pravastatin in people with Coronary Stenosis as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Stenosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11825576","article_title":"Pharmacogenetics of opioid medications for relief of labor pain and post-cesarean pain: a systematic review and meta-analysis","article_path":"articles/PMC11825576.md","variant_annotation_id":1452809660,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"opioids","pmid":39774699,"phenotype_category":"Dosage","significance":"yes","notes":"\"A significant difference was observed among carriers of rs1799971 GG genotype in comparison to carriers of the A-allele in terms of opioid dose requirement for pain management of post-cesarean pain (SMD: 0.59; 95% CI: 0.17\u20131.02; P\u2009=\u20090.006, Fig. 3B).\" \"Six studies including patients with post-cesarean pain only [18,19,20, 23, 37, 42] were available for the association between the recessive model of OPRM1 rs1799971 and total opioid consumption (Fig. 3B). \"","sentence":"Genotype GG is associated with increased dose of opioids in women with Caesarian section and Pain as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Caesarian section, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934392,"variant_haplotypes":"rs727504348","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Gly373Ser in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163202,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6654446","article_title":"Gender\u2010specific association between preproendothelin\u20101 genotype and reduction of systolic blood pressure during antihypertensive treatment\u2010\u2010\u2010results from the Swedish irbesartan left ventricular hypertrophy investigation versus atenolol (SILVHIA)","article_path":"articles/PMC6654446.md","variant_annotation_id":982043126,"variant_haplotypes":"rs5370","gene":"EDN1","drugs":"atenolol, irbesartan","pmid":15188945,"phenotype_category":"Efficacy","significance":"yes","notes":"No significant difference in the change in systolic blood pressure (SBP) or diastolic blood pressure (DBP) between genotypes was seen, between baseline and 12 weeks. p-value was adjusted for age, dose, and SBP, DBP and left ventricular mass index (LVMI) at baseline.","sentence":"Genotypes GT + TT are not associated with response to atenolol and irbesartan in women with Essential hypertension as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949731,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"CYP2C9 *1/*3 + *3/*3 is not associated with resistance to clopidogrel in people with Stroke as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245428,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"aspirin","pmid":21392617,"phenotype_category":"Efficacy","significance":"not stated","notes":"Aspirin 81-325 mg/d for at least 2 weeks. ADP-induced ex vivo platelet aggregation was measured. *2 SNP. Comparison was between A carriers and non-carriers. [stat_test: chi-square]","sentence":"Allele A is not associated with decreased response to aspirin in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672704,"variant_haplotypes":"rs768416963","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3818518","article_title":"Pharmacogenetic Randomized Trial for Cocaine Abuse: Disulfiram and \u03b11A-adrenoceptor gene variation","article_path":"articles/PMC3818518.md","variant_annotation_id":1452010880,"variant_haplotypes":"rs1048101","gene":"ADRA1A","drugs":"disulfiram","pmid":23849431,"phenotype_category":"Efficacy","significance":"yes","notes":"alleles complemented to plus chromosomal strand. Significance measured for untreated vs treated for each genotype group. \"As shown in Figure 1, cocaine positive urines for the TT/TC genotype group during the two baseline weeks were 78% for disulfiram and 80% for placebo. These rates dropped during the last two weeks of treatment to 52% for disulfiram and to 73% for placebo. In comparison, cocaine urines for the CC genotype group during the two baseline weeks were 86% for disulfiram and 80% for placebo. These rates were relatively unchanged during the last two weeks of treatment at 81% for disulfiram and to 82% for placebo. \" Authors showed interaction between this variant and the DBH rs1611115 variant.","sentence":"Genotypes AA + AG is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114925,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and virologic suppression in patients treated with lopinavir/ritonavir. Variant referred to in the paper as T512C.","sentence":"Allele C is not associated with response to lopinavir or ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375604,"variant_haplotypes":"rs61816456","gene":"NTNG1","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele A is associated with increased response to allopurinol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729352,"variant_haplotypes":"rs15524","gene":"CYP3A5","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AG + GG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4525256","article_title":"Leveraging an Electronic Health Record-Linked Biorepository to Generate a Metformin Pharmacogenomics Hypothesis","article_path":"articles/PMC4525256.md","variant_annotation_id":1446903458,"variant_haplotypes":"rs13376631","gene":"FMO1","drugs":"metformin","pmid":26306225,"phenotype_category":"Efficacy","significance":"no","notes":"EHR-linked and EHR-based phenotyping methods were used to study common variants within FMO5. Efficacy was assessed by A1c levels extracted from EHR records. The SNP was marginally significant after correction for multiple testing.","sentence":"Allele G is not associated with response to metformin in people with Diabetes Mellitus as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978601,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"phenytoin","pmid":15805193,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with increased dose of phenytoin in people with Epilepsy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170844,"variant_haplotypes":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A4","drugs":"endoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of endoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3865618","article_title":"Association of Genetic Polymorphisms with Warfarin Dose Requirements in Chinese Patients","article_path":"articles/PMC3865618.md","variant_annotation_id":1184482805,"variant_haplotypes":"rs3814637","gene":"CYP2C19","drugs":"warfarin","pmid":23941071,"phenotype_category":"Dosage","significance":"yes","notes":"\"The mean warfarin dose in patients with the CYP2C19 rs3814637CC genotype was 3.39mg/day, which was higher than that in patients with the CYP2C19 rs3814637TT genotype (2.00mg/day).\"","sentence":"Genotype CC is associated with increased dose of warfarin as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995800,"variant_haplotypes":"rs1960669","gene":"FGF2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752036,"variant_haplotypes":"rs11577910","gene":"CTPS1","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"No AA homozygotes observed.","sentence":"Genotype AG is associated with increased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104869,"variant_haplotypes":"rs3810651","gene":"GABRQ","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele T is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2992873","article_title":"Genetic Variation of VKORC1 and CYP4F2 Genes Related to Warfarin Maintenance Dose in Patients with Myocardial Infarction","article_path":"articles/PMC2992873.md","variant_annotation_id":981500585,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":21127708,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"This is VKORC1*3. There was a significant association when analyzed alone, but the effect was so small that it was negligible when analyzed with VKORC1*2,CYP2C9*2 and CYP2C9*3.","sentence":"Allele T is associated with increased dose of warfarin in people with Myocardial Infarction as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Myocardial Infarction","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3213989","article_title":"RUNX transcription factors: association with pediatric asthma and modulated by maternal smoking","article_path":"articles/PMC3213989.md","variant_annotation_id":827789050,"variant_haplotypes":"rs11702779","gene":"RUNX1","drugs":"methacholine chloride","pmid":21803869,"phenotype_category":"Other","significance":"yes","notes":"This is for children who WERE exposed to maternal smoking in utero.","sentence":"Genotypes AG + GG are associated with increased response to methacholine chloride in children with Asthma.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043698,"variant_haplotypes":"rs2246709","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a woman reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are not associated with response to amlodipine in women with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4930967","article_title":"Prospective study of the UGT1A1*27 gene polymorphism during irinotecan therapy in patients with lung cancer: Results of Lung Oncology Group in Kyusyu (LOGIK1004B)","article_path":"articles/PMC4930967.md","variant_annotation_id":1448422916,"variant_haplotypes":"UGT1A1*1, UGT1A1*6, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":27385990,"phenotype_category":"Efficacy","significance":"no","notes":"Neither the *6 nor the *28 alleles were associated with tumor response rate, progression free survival or overall survival.","sentence":"UGT1A1 *6 + *28 are not associated with response to irinotecan in people with Lung Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*6 + *28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3248257","article_title":"The population pharmacokinetics of R- and S-warfarin: effect of genetic and clinical factors","article_path":"articles/PMC3248257.md","variant_annotation_id":827863702,"variant_haplotypes":"rs3814637","gene":"CYP2C19","drugs":"warfarin","pmid":21692828,"phenotype_category":"Other, Metabolism/PK","significance":"not stated","notes":"For R-Warfarin in a model that included bodyweight, age and CYP3A4 rs2242480.","sentence":"Allele T is associated with decreased clearance of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4292894","article_title":"Genetic variation in the UGT1A locus is associated with simvastatin efficacy in a clinical practice setting","article_path":"articles/PMC4292894.md","variant_annotation_id":1296666983,"variant_haplotypes":"rs12052787","gene":"UGT1A9","drugs":"simvastatin","pmid":25493567,"phenotype_category":"Efficacy","significance":"yes","notes":"The mean Emax (maximum decrease in LDL-C) was 59.77 \u00b1 22.68, 64.24 \u00b1 24.56, and 61.42 \u00b1 4.617mg/dl, for patients with 0, 1 or 2 copies of the minor T allele. There is a nominally significant association between Emax with this variant.","sentence":"Allele T is associated with increased response to simvastatin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680719,"variant_haplotypes":"rs45564134","gene":"CYP1A2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Presented as G and deletion","sentence":"Allele G is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes G/del + del/del.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/del + del/del","comparison_metabolizer_types":null} -{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629572,"variant_haplotypes":"CYP2D6*3, CYP2D6*4","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 1 of these 46 was *3/*4. One *3/*4 had been phenotyped on dextromethorphan as EM.","sentence":"CYP2D6 *3/*4 is associated with metabolism of debrisoquine or dextromethorphan.","alleles":"*3/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680801,"variant_haplotypes":"rs707265","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype AA is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171084,"variant_haplotypes":"rs8192719","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of methadone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC1884346","article_title":"Haloperidol plasma concentration in Japanese psychiatric subjects with gene duplication of CYP2D6","article_path":"articles/PMC1884346.md","variant_annotation_id":1183623024,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10","gene":"CYP2D6","drugs":"haloperidol","pmid":12919180,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was seen between CYP2D6 genotype and plasma concentration of haloperidol. Duplication of the *2 allele also showed no association with plasma concentration of haloperidol.","sentence":"CYP2D6 *2 + *10 are not associated with increased metabolism of haloperidol as compared to CYP2D6 *1.","alleles":"*2 + *10","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699050,"variant_haplotypes":"rs10776850","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113763,"variant_haplotypes":"rs1294092","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11573879","article_title":"Population Pharmacokinetic Quantification of CYP2D6 Activity in Codeine Metabolism in Ambulatory Surgical Patients for Model-Informed Precision Dosing","article_path":"articles/PMC11573879.md","variant_annotation_id":1452654860,"variant_haplotypes":"CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"morphine","pmid":39441506,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"patients carrying the CYP2D6*41 allele had consistently higher AUC/F as compared with patients carrying the CYP2D6*10 allele.\" \"In accordance with these results, our study demonstrates that the CYP2D6*10 decreased function allele shows higher apparent CYP2D6 activity than the CYP2D6*41 allele\"","sentence":"CYP2D6 *41 is associated with increased exposure to morphine in people with Pain, Postoperative as compared to CYP2D6 *10.","alleles":"*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*10","comparison_metabolizer_types":null} -{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820570,"variant_haplotypes":"rs6865420","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference was seen when considering DONOR genotype at week 3 of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotype AC is not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotypes AA + CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5798599","article_title":"Development of a physiology-directed population pharmacokinetic and pharmacodynamic model for characterizing the impact of genetic and demographic factors on clopidogrel response in healthy adults","article_path":"articles/PMC5798599.md","variant_annotation_id":1447359923,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"clopidogrel","pmid":26524713,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In the Amish PAPI study, age, BMI, CYP2C19*2 polymorphism and CES1 G143E polymorphism were the only statistically significant (p < 0.01) covariates characterizing interindividual differences in clopidogrel elimination/bioactivation and on-treatment platelet reactivity.","sentence":"CYP2C19 *1/*2 + *2/*17 + *2/*2 are associated with decreased metabolism of clopidogrel in healthy individuals as compared to CYP2C19 *1/*1 + *1/*17.","alleles":"*1/*2 + *2/*17 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":null} -{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449155990,"variant_haplotypes":"rs503464","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.","sentence":"Allele A is associated with increased response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450932005,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the AA genotype had significantly increased sufentanil consumption compared to patients with the AG or GG genotypes, while those with the AG genotype had significantly increased compared to patients with the GG genotype. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AG are associated with increased dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705508,"variant_haplotypes":"rs12980275","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes AG + GG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922827,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"cyclophosphamide, doxorubicin","pmid":22527101,"phenotype_category":"Efficacy","significance":"no","notes":"Response = complete clinical response (cCR). 9.0% vs 10.3%.","sentence":"CYP2C8 *1/*3 + *3/*3 is not associated with increased response to cyclophosphamide and doxorubicin in women with Breast Neoplasms as compared to CYP2C8 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928092,"variant_haplotypes":"rs6706232","gene":"UGT1A3","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was initially significantly more frequent in patients designated as responders to risperidone (i.e. >50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele A is associated with increased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373150,"variant_haplotypes":"rs675026","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4119242","article_title":"Influence of TCF7L2 gene variants on the therapeutic response to the dipeptidylpeptidase-4 inhibitor linagliptin","article_path":"articles/PMC4119242.md","variant_annotation_id":1452876319,"variant_haplotypes":"rs7903146","gene":"TCF7L2","drugs":"linagliptin","pmid":24906949,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Linagliptin lowered HbA1c meaningfully in all three genotypes of rs7903146 (non-risk variant carriers CC [n\u2009=\u2009356]: \u22120.82% [\u22129.0 mmol/mol], p\u2009<\u20090.0001; heterozygous CT [n\u2009=\u2009264]: \u22120.77% [\u22128.4 mmol/mol], p\u2009<\u20090.0001; homozygous risk variant carriers TT [n\u2009=\u200973]: \u22120.57% [\u22126.2 mmol/mol], p\u2009<\u20090.0006). No significant treatment differences were seen between CC and CT patients, although HbA1c response was reduced in TT compared with CC patients (~0.26% [~2.8 mmol/mol], p\u2009=\u20090.0182).\"","sentence":"Genotypes CC + CT is associated with increased clinical benefit to linagliptin in people with Diabetes Mellitus, Type 2 as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7649675","article_title":"Pharmacogenetics of TNF inhibitor\u00a0response in rheumatoid arthritis utilizing the two-component disease activity score","article_path":"articles/PMC7649675.md","variant_annotation_id":1451293868,"variant_haplotypes":"rs17301249","gene":"EYA4","drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":33124499,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in 2C-DAS28. Table 2 shows change was a positive value for this variant suggesting increased 2C-DAS28 and less response, it was not attributed to a particular allele at this rs number location so assumed minor allele based on dbSNP frequencies.","sentence":"Allele C is associated with decreased response to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558050,"variant_haplotypes":"rs2244500","gene":"TYMS","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2684883","article_title":"CYP4F2 Is a Vitamin K1 Oxidase: An Explanation for Altered Warfarin Dose in Carriers of the V433M Variant","article_path":"articles/PMC2684883.md","variant_annotation_id":1183700215,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"Vitamin K and analogues","pmid":19297519,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Human Liver Microsomes carrying T had lower vitamin K1 oxidation as well as a decreased steady-state hepatic concentration of Vitamin K1 oxidase. HLM-CC: generated metabolite at 0.85 pmol/min/mg microsomal protein. CT: 0.44 pmol/min/mg; TT: 0.21 pmol/min/mg.; Amount of CYP4F2: CC:11.3 pmol/mg microsomal protein; CT:7.2 pmol/mg; TT: 2.5 pmol/mg.","sentence":"Allele T is associated with decreased metabolism of Vitamin K as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2976128","article_title":"Pharmacokinetics and Pharmacogenomics of Once-Daily Raltegravir and Atazanavir in Healthy Volunteers","article_path":"articles/PMC2976128.md","variant_annotation_id":1184998726,"variant_haplotypes":"UGT1A1*28","gene":"UGT1A1","drugs":"raltegravir","pmid":20823282,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Only one participant was homozygous for 2 UGT1A1 reduced-function alleles and had the lowest raltegravir-glucuronide/raltegravir ratio regardless of atazanavir dosing. Using linear mixed-effect modeling, participants with 1 or 2 reduced-function alleles had nearly identical ratio compared to those with the reference UGT1A *1/*1. In linear regression analysis after adjusting for atazanavir, the ratio of raltegravir-glucuronide AUC to the raltegravir AUC was no different in those with reduced-function alleles than in those with the reference allele (1.19-fold change).","sentence":"UGT1A1 *28 is not associated with metabolism of raltegravir in healthy individuals.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5932771","article_title":"Optimal predictor for 6-mercaptopurine intolerance in Chinese children with acute lymphoblastic leukemia: NUDT15, TPMT, or ITPA genetic variants?","article_path":"articles/PMC5932771.md","variant_annotation_id":1449750257,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"mercaptopurine","pmid":29720126,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"as measured by 6-MP dose intensity, which is a measure dose adjustment due to toxicity calculated by the ratio of the prescribed 6-MP dose over the protocol dose of 50 mg/m2/d.","sentence":"Allele A is not associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558016,"variant_haplotypes":"rs1703794","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729080,"variant_haplotypes":"rs1057911","gene":"CYP2C9","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotype AT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3624039","article_title":"Methacholine PC20 In African Americans And Whites With Asthma With Homozygous Genotypes at ADRB2 Codon 16","article_path":"articles/PMC3624039.md","variant_annotation_id":1183682206,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"methacholine","pmid":23384627,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had lower log PC20 (provocative concentration of methacholine that causes a 20% fall in FEV1) compared to those with the GG genotype, indicating increased airway reactivity and an increased risk of worse asthma outcomes. Please note that this genotype was compared within African Americans, and between African Americans (AA genotype) and Whites (GG genotype). However, allele frequencies were the same between the two ethnicities in this population. African Americans n=45, Whites n=43.","sentence":"Genotype AA is associated with decreased response to methacholine in people with Asthma as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470358,"variant_haplotypes":"rs4823613","gene":"PPARA","drugs":"tacrolimus","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Allele G is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3401172","article_title":"An Acenocoumarol Dosing Algorithm Using Clinical and Pharmacogenetic Data in Spanish Patients with Thromboembolic Disease","article_path":"articles/PMC3401172.md","variant_annotation_id":1448259338,"variant_haplotypes":"CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"acenocoumarol","pmid":22911785,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9 variants were significantly associated with acenocoumarol dose, and explained 11.7% of the variability in dose. Clinical variables (Age, BMI, Enzyme inducers status and Amiodarone status) explained 22% of the variability in dose. This study developed an algorithm for acenocoumarol dosing using clinical and pharmacogenetic data.","sentence":"CYP2C9 *2 + *3 is associated with dose of acenocoumarol.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491412,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As shown by increased plasma concentrations (units = mg/L) for those with the TT genotype compared to those with the GG genotype. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"Genotype TT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4099069","article_title":"ERCC1 Cys8092Ala and XRCC1 Arg399Gln Polymorphisms Predict Progression-Free Survival after Curative Radiotherapy for Nasopharyngeal Carcinoma","article_path":"articles/PMC4099069.md","variant_annotation_id":1184754301,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"cisplatin, radiotherapy","pmid":25025378,"phenotype_category":"Efficacy","significance":"yes","notes":"All patients had stage II-IV nasopharyngeal cancer and progression free survival (PFS) was the primary endpoint.","sentence":"Genotype TT is associated with decreased response to cisplatin and radiotherapy in people with Nasopharyngeal Neoplasms and Tobacco Use Disorder as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nasopharyngeal Neoplasms, Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433550,"variant_haplotypes":"rs2305795","gene":"EIF3G, P2RY11, PPAN-P2RY11","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele G is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793945,"variant_haplotypes":"rs2072671","gene":"CDA","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had a better response to gemcitabine therapy than patients with either the AC or the CC genotype. However, progression free survival did not significantly differ between genotype groups. There were four SNPs in this study that, when taken together, affected progression free survival: rs183484, rs2072671, rs760370, and rs9937. Using patients with 0 or 1 variant as reference, patients with 2 variants had an increased HR of 1.79 (P = 0.004) and patients with 3-4 variants has an increased HR of 3.25 (P < 0.001). There were also two SNPs in this study that, when taken together, affected tumor response to therapy: rs2072671 and rs760370. Using patients with 0 variants as reference, patients with 1-2 variants had an increased OR of 3.40 (P = 0.004).","sentence":"Genotype AA is associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479826,"variant_haplotypes":"rs651430","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5563830","article_title":"Association of ABCB1 Gene Polymorphisms with Efficacy and Adverse Reaction to Risperidone or Paliperidone in Han Chinese Schizophrenic Patients","article_path":"articles/PMC5563830.md","variant_annotation_id":1448604057,"variant_haplotypes":"rs12535512","gene":"ABCB1","drugs":"risperidone","pmid":27456824,"phenotype_category":"Efficacy","significance":"yes","notes":"Efficacy measured with reduction in PANSS total score reduced rate.","sentence":"Genotypes CC + CT are not associated with response to risperidone in people with Schizophrenia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6451710","article_title":"Impact of CYP3A4*22 on Pazopanib Pharmacokinetics in Cancer Patients","article_path":"articles/PMC6451710.md","variant_annotation_id":1451639980,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"pazopanib","pmid":30367352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No homozygous TT observed. Alleles complemented to plus chromosomal strand.","sentence":"Genotype CT is not associated with decreased clearance of pazopanib in people with Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5818817","article_title":"Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial","article_path":"articles/PMC5818817.md","variant_annotation_id":1449269209,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":28973620,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele T is associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934368,"variant_haplotypes":"rs869312399","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the C allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Pro259Arg in the paper.","sentence":"Allele C is associated with increased response to migalastat in people with Fabry Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163292,"variant_haplotypes":"rs3745274","gene":"CYP2A7P1, CYP2B6","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3055457","article_title":"Gender-Specific Association of Galanin Polymorphisms with HPA-Axis Dysregulation, Symptom Severity, and Antidepressant Treatment Response","article_path":"articles/PMC3055457.md","variant_annotation_id":981754640,"variant_haplotypes":"rs948854","gene":"GAL","drugs":"antidepressants, benzodiazepine derivatives, mirtazapine, Selective serotonin reuptake inhibitors","pmid":20237460,"phenotype_category":"Efficacy","significance":"yes","notes":"This was specific to premenopausal women(not seen in postmenopausal women or in men). The same allele was associated with more severe vegetative but not cognitive depressive symptoms. Patients were on a variety of therapies, with the three largest groups being SSRIs,Tricyclics, and Mirtazapine.","sentence":"Allele C is associated with decreased response to antidepressants, benzodiazepine derivatives, mirtazapine or Selective serotonin reuptake inhibitors in women Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11393095","article_title":"Impact of CYP2D6*2, CYP2D6*35, rs5758550, and related haplotypes on risperidone clearance in vivo","article_path":"articles/PMC11393095.md","variant_annotation_id":1452518420,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*9, CYP2D6*10, CYP2D6*35, CYP2D6*41","gene":"CYP2D6","drugs":"risperidone","pmid":38963454,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The clearances attributable to the alleles or haplotypes; of primary interest were estimated at 30% for CYP2D6*2-; rs5758550A, 66% for CYP2D6*2-rs5758550G, and 57% for CYP2D6*35, relative to the clearance for *1 (Fig. 1). For the; remaining decreased function alleles *9, *10, and *41, the; allele-specific clearances were estimated to be 39%, 32%, and; 15%, respectively, relative to the clearance for *1\" \"Each evaluated CYP2D6 allele was associated with significantly lower risperidone clearance than the reference normal function allele CYP2D6*1 (p\u2009<\u20090.001).\"","sentence":"CYP2D6 *2 + *9 + *10 + *35 + *41 is associated with decreased clearance of risperidone as compared to CYP2D6 *1.","alleles":"*2 + *9 + *10 + *35 + *41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654456,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Though there was a trend for a higher dose per T allele, CYP4F2 genotype was not retained in the final model. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children.","sentence":"Allele T is not associated with increased dose of warfarin in children with Heart Diseases as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184756280,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"yes","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\" rs2108622 was not significantly associated with warfarin maintenance dose in the first cohort but was significant in the multivariate analysis.","sentence":"Allele C is associated with decreased dose of warfarin in people with heart valve replacement as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8758337","article_title":"OPRM1 moderates daily associations of naltrexone adherence with alcohol consumption: Preliminary evidence from a mobile health trial","article_path":"articles/PMC8758337.md","variant_annotation_id":1451143900,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":32020635,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant main effect of rs1799971 genotype on alcohol craving or consumption during naltrexone treatment. However, the authors found that the G allele significantly moderated the interaction between adherence to naltrexone and same-day alcohol consumption.","sentence":"Allele G is not associated with response to naltrexone in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002496,"variant_haplotypes":"rs4735715","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane. Did not reach statistical significance for GWAS (P<5 x 10^-8).","sentence":"Allele A is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4002970","article_title":"IGF2BP2 variations influence repaglinide response and risk of type 2 diabetes in Chinese population","article_path":"articles/PMC4002970.md","variant_annotation_id":981502270,"variant_haplotypes":"rs4402960","gene":"IGF2BP2","drugs":"repaglinide","pmid":20523342,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"The parameter that showed enhanced response was PINS(postprandial serum insulin) . The authors noted that the T allele frequency was higher in the Type 2 Diabetes patients than in the healthy controls when the entire trial population of 350 patients and 207 controls was assayed (T freq = 0.2714 vs 0.2126) . The subset of patients treated with repaglinide all had the same CYP2C8 genotypes(with respect to *3- but exact genotypes not given) and SLCO1B1 genotypes(with respect to *1B,*5 and *15, but exact genotypes not given) .","sentence":"Genotypes GT + TT are associated with increased response to repaglinide in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452570012,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370504,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"yes","notes":"in Alaska Native and American Indian People. This variant -1639G>A is significantly associated with stable warfarin dose, decreasing the dose required to achieve therapeutic INR by 1.7 mg/day per allele (t-test of coefficients, unadjusted P = 1.4e-05, Bonferroni adjusted P = 7.0e-05).","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11418302","article_title":"CYP2C19 genotype and sodium channel blockers in lacosamide-treated children with epilepsy: two major determinants of trough lacosamide concentration or clinical response","article_path":"articles/PMC11418302.md","variant_annotation_id":1452616100,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"lacosamide","pmid":39314259,"phenotype_category":"Efficacy","significance":"no","notes":"\"Intriguingly, CYP2C19 *2 (rs4244285; G to A), but not *3 (rs4986893), was observed to be associated with the clinical response of LCM. Children carrying alleles GA or AA achieved better efficacy (Supplemental Table 4). Nevertheless, this association did not retain statistical significance after applying the Bonferroni correction for multiple comparisons. Moreover, the plasma trough concentration of LCM in nonresponders with wild GG genotypes was significantly lower than those responders with GA or AA genotypes (Figure 3). These findings suggest that individuals who have a better efficacy should have higher plasma concentrations, which was consistent with previous research.18,32 However, no statistical difference in concentration between responders and nonresponders was observed in our study.\"","sentence":"Genotypes AA + AG is associated with increased clinical benefit to lacosamide in children with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491271,"variant_haplotypes":"rs6882321","gene":"SV2C","drugs":"risperidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype AA is not associated with response to risperidone in people with Schizophrenia as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003680,"variant_haplotypes":"rs3842","gene":"ABCB1","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6942309","article_title":"Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene","article_path":"articles/PMC6942309.md","variant_annotation_id":1452831000,"variant_haplotypes":"ABCG8 deficiency","gene":"ABCG8","drugs":"ezetimibe","pmid":31901240,"phenotype_category":"Efficacy","significance":"yes","notes":"\"ezetimibe-atorvastatin combination therapy might be more beneficial in hypercholesterolemic patients with a mutation in ABCG5 or ABCG8 gene.\" Variants identified were c.55G\u2009>\u2009C (p.Asp19His) rs11887534, c.1226A\u2009>\u2009G (p.Asn409Ile) rs150977210, c.1256\u2009T\u2009>\u2009A (p.Ile419Asn) rs201659189, c.1285A\u2009>\u2009G (p.Met429Val) rs147194762, c.1763C\u2009>\u2009A (p.Ala588Glu) rs377433853, c.1798\u2009T\u2009>\u2009G (p.Phe600Val) not found. Rs numbers for some variants mapped by manual curation of tables at ClinVar.","sentence":"ABCG8 deficiency is associated with increased clinical benefit to ezetimibe in people with Familial hypercholesterolemia.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Familial hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864556,"variant_haplotypes":"rs429358","gene":"APOC1, APOE","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin in people with haplotype epsilon2.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:haplotype epsilon2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5346382","article_title":"Effects of FMO3 Polymorphisms on Pharmacokinetics of Sulindac in Chinese Healthy Male Volunteers","article_path":"articles/PMC5346382.md","variant_annotation_id":1448613027,"variant_haplotypes":"rs2266780","gene":"FMO3","drugs":"sulindac","pmid":28331852,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Measures of exposure were AUC, Cmax, Tmax, and T1/2.","sentence":"Genotype GG is associated with increased exposure to sulindac in healthy individuals as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896117,"variant_haplotypes":"rs1596996","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4484512","article_title":"Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis","article_path":"articles/PMC4484512.md","variant_annotation_id":1449192131,"variant_haplotypes":"rs121909047","gene":"CFTR","drugs":"lumacaftor","pmid":26137539,"phenotype_category":"Efficacy","significance":"yes","notes":"A561E allele. Study carried out using primary bronchial epithelial cells from donors with cystic fibrosis. Secretion of chloride ions across the cell membrane was measured to determine CFTR activity.","sentence":"Genotype AA is associated with response to lumacaftor.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793894,"variant_haplotypes":"rs1048977","gene":"CDA","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3872414","article_title":"Polymorphisms of MTHFR Associated with Higher Relapse/Death Ratio and Delayed Weekly MTX Administration in Pediatric Lymphoid Malignancies","article_path":"articles/PMC3872414.md","variant_annotation_id":1451506600,"variant_haplotypes":"rs11045879","gene":"SLCO1B1","drugs":"methotrexate","pmid":24386571,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in relapse-free survival between genotype groups.","sentence":"Allele C is not associated with response to methotrexate in children with Lymphoma, Non-Hodgkin or Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma, Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491258,"variant_haplotypes":"rs1995380","gene":"SV2C","drugs":"risperidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype GG is not associated with response to risperidone in people with Schizophrenia as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC2859392","article_title":"Effects of CYP2B6 G516T polymorphisms on plasma efavirenz and nevirapine levels when co-administered with rifampicin in HIV/TB co-infected Thai adults","article_path":"articles/PMC2859392.md","variant_annotation_id":1184988061,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":20338069,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association with significantly increased efavirenz plasma levels. Was significant at week 6, 12 of treatment and 1 month after rifampicin discontinuation.","sentence":"Genotype TT is associated with decreased metabolism of efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3902809","article_title":"Clinical Impact of Cytochrome P450 2C19 Genotype on the Treatment of Invasive Aspergillosis under Routine Therapeutic Drug Monitoring of Voriconazole in a Korean Population","article_path":"articles/PMC3902809.md","variant_annotation_id":1444841988,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":24475354,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The percentage of patients with an out-of-range (i.e. below-range) initial trough level differed significantly between extensive metabolizers (*1/*1, *1/*17), heterozygous extensive metabolizers (*1/*2, *1/*3) and poor metabolizers (*2/*2, *2/*3): 46% vs 26% vs 0% respectively. No significant difference was seen when considering above-range levels.","sentence":"CYP2C19 *1/*1 + *1/*17 is associated with decreased trough concentration of voriconazole in people with Hematologic Diseases as compared to CYP2C19 *1/*2 + *1/*3 + *2/*2 + *3/*3.","alleles":"*1/*1 + *1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematologic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3 + *2/*2 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3245828","article_title":"A Common \u03b21-Adrenergic Receptor Polymorphism Predicts Favorable Response to Rate Control Therapy in Atrial Fibrillation","article_path":"articles/PMC3245828.md","variant_annotation_id":827816346,"variant_haplotypes":"rs1801252","gene":"ADRB1","drugs":"atenolol, carvedilol, diltiazem, metoprolol, verapamil","pmid":22192668,"phenotype_category":"Efficacy","significance":"no","notes":"Reported as 52% responders in carriers of minor allele group vs. 55% in Ser49Ser. Ser corresponds to A on the + strand. [stat_test:chi square].","sentence":"Genotypes AG + GG are not associated with increased response to atenolol, carvedilol, diltiazem, metoprolol or verapamil in people with Atrial Fibrillation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981732098,"variant_haplotypes":"rs4149601","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5440888","article_title":"Lumacaftor/Ivacaftor in Patients Aged 6\u201311 Years with Cystic Fibrosis and Homozygous for F508del-CFTR","article_path":"articles/PMC5440888.md","variant_annotation_id":1449192632,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, lumacaftor","pmid":27805836,"phenotype_category":"Efficacy","significance":"yes","notes":"F508del allele. Improvements seen in sweat chloride levels, BMI, CFQ-R score and LCI2.5 following 24 weeks of ivacaftor treatment.","sentence":"Genotype del/del is associated with response to ivacaftor and lumacaftor in children with Cystic Fibrosis.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5101708","article_title":"Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters","article_path":"articles/PMC5101708.md","variant_annotation_id":1448612419,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"talinolol","pmid":27825374,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was a twin study of monozygotic and dizygotic twins.","sentence":"Allele C is not associated with clearance of talinolol in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602077,"variant_haplotypes":"rs61750900","gene":"UGT2B10","drugs":"cotinine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP is not associated with the pharmacokinetic measures of cotinine.","sentence":"Genotype GG is not associated with metabolism of cotinine in people with Tobacco Use Disorder as compared to genotype GT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} -{"pmcid":"PMC5612381","article_title":"CYP2B6 Genotypes and Early Efavirenz-based HIV Treatment Outcomes in Botswana","article_path":"articles/PMC5612381.md","variant_annotation_id":1448636182,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":28692529,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This is for CYP2B6 983T>C.","sentence":"Genotypes CC + CT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3692386","article_title":"Does CALU SNP rs1043550 Contribute Variability to Therapeutic Warfarin Dosing Requirements?","article_path":"articles/PMC3692386.md","variant_annotation_id":1184165651,"variant_haplotypes":"rs1043550","gene":"CALU","drugs":"warfarin","pmid":23656803,"phenotype_category":"Dosage","significance":"no","notes":"No significant differences in therapeutic warfarin dose (mg/wk) or error in predicted dose were seen between any of the genotypes (AA, AG, GG). Note that the study cohort differed from Hardy-Weinberg equilibrium.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC12043259","article_title":"Pharmacogenetics of plasma dolutegravir exposure during 1-month rifapentine/isoniazid treatment of latent tuberculosis","article_path":"articles/PMC12043259.md","variant_annotation_id":1452856180,"variant_haplotypes":"rs1803155","gene":"AADAC","drugs":"dolutegravir","pmid":39960813,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"At day 0, there was no association between AADAC; rs1803155 and dolutegravir Ctrough. ... day 28, AADAC rs1803155 was associated with; dolutegravir Ctrough. Compared with rs1803155 AA poor; metabolizers, day 28 Ctrough was higher in AG intermediate metabolizers (GMR = 1.48; 90% CI: 1.14\u20131.90), and; in GG normal metabolizers (GMR = 1.79; 90% CI: 1.09\u2013; 2.93). Relationships between AADAC rs1803155 genotype and dolutegravir Ctrough are shown in Fig. 1b\"","sentence":"Genotypes AG + GG is associated with increased dose-adjusted trough concentrations of dolutegravir in people with HIV infectious disease and Tuberculosis as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4116556","article_title":"Concentration of Tacrolimus and Major Metabolites in Kidney Transplant Recipients as a Function of Diabetes Mellitus and Cytochrome P450 3A Gene Polymorphism","article_path":"articles/PMC4116556.md","variant_annotation_id":1184514528,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23278282,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Dose normalized trough and 2-hr post dose dose-adjusted tacrolimus blood levels were lower in CYP3A5 expresser (CYP3A5*1 carriers, n=15) than in non-expresser (CYP3A5*3/*3 homozygotes, n=33). Dose adjusted blood levels of metabolites 15-O-desmethyl tacrolimus, but not 13-O-desmethyl tacrolimus at 12hr post-dose, were also lower in CYP3A5 expressers than in CYP3A5 non-expressers.","sentence":"Genotypes CT + TT are associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4445755","article_title":"Genetic variants in combination with early partial improvement as a clinical utility predictor of treatment outcome in major depressive disorder: the result of two pooled RCTs","article_path":"articles/PMC4445755.md","variant_annotation_id":1447681357,"variant_haplotypes":"rs1449683","gene":"FGF2","drugs":"fluvoxamine","pmid":25710119,"phenotype_category":"Efficacy","significance":"yes","notes":"depressive symptoms measured on Hamilton Rating Scale for Depression and outcome as change in symptoms, as measured 6 weeks after drug, following 10 days washout.","sentence":"Genotypes CC + CT are associated with decreased response to fluvoxamine in people with Depressive Disorder as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3092713","article_title":"Integration of population pharmacokinetics and pharmacogenetics: an aid to optimal nevirapine dose selection in HIV-infected individuals","article_path":"articles/PMC3092713.md","variant_annotation_id":827861853,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"nevirapine","pmid":21441248,"phenotype_category":"Toxicity, Metabolism/PK","significance":"not stated","notes":"The 983TC genotype decreased clearance of Nevirapine by 40%.","sentence":"Genotype CT is associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3621246","article_title":"Combined approach with therapeutic drug monitoring and pharmacogenomics in renal transplant recipients","article_path":"articles/PMC3621246.md","variant_annotation_id":1184515016,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23580812,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This is a case report of one woman in India. She had noted elevated maintenance tacrolimus levels despite low doses of the drug (2 mg/day). She was genotyped for CYP3A5 and ABCB1 alleles. She was mutant homozygous for CYP3A5*3(CC) alleles and MDR1-2677(TT) alleles, heterozygous for MDR1-1236(CT) alleles and wild-type homozygous for CYP3A5*6 (GG) and MDR1 3435C (CC) alleles. The author concluded this explained her elevated levels.","sentence":"Genotype CC is associated with decreased metabolism of tacrolimus in Kidney Transplantation.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954096,"variant_haplotypes":"rs2859388","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3628804","article_title":"The correlation between post-operative fentanyl requirements and \u03bc-opioid receptor gene A118G polymorphism in patients undergoing radical gastrectomy","article_path":"articles/PMC3628804.md","variant_annotation_id":1449716657,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"fentanyl","pmid":23599738,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930622,"variant_haplotypes":"rs667282","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The C allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele C is not associated with exposure to nicotine in men as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113825,"variant_haplotypes":"rs511435","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. This is a C/G/T SNP. Based on allele frequencies reported in dbSNP, it is assumed that the major allele in this study is C and the minor allele is T. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3931261","article_title":"Novel CYP2A6 variants identified in African Americans are associated with slow nicotine metabolism in vitro and in vivo","article_path":"articles/PMC3931261.md","variant_annotation_id":1452442404,"variant_haplotypes":"CYP2A6*1, CYP2A6*41","gene":"CYP2A6","drugs":"nicotine","pmid":24305170,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association with lower activity of the novel variant groups [CYP2A6*39 (V68M), CYP2A6*40 (I149M), CYP2A6*41 (R265Q; rs140471703), CYP2A6*42 (I268T), CYP2A6*43 (T303I), CYP2A6*44 (E390K; rs376817657), CYP2A6*44 (L462P)] was; tested using a one-way analysis of variance with Bonferroni tests used for post-hoc analysis, P<0.01. A comparison between CYP2A6*1/*1 and; the combined group was tested using an unpaired t-test, ***P<0.001","sentence":"CYP2A6 *41 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1.","alleles":"*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6855320","article_title":"CYP2C19 and STAT6 Variants Influence the Outcome of Proton Pump Inhibitor Therapy in Pediatric Eosinophilic Esophagitis","article_path":"articles/PMC6855320.md","variant_annotation_id":1451273761,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"esomeprazole","pmid":31490856,"phenotype_category":"Efficacy","significance":"yes","notes":"children who were carriers of CYP2C19\udbff\udc0017 GOF had 8.2-fold better odds of receiving a PPI-nonresponsive EoE diagnosis than children who did not carry CYP2C19\udbff\udc0017 GOF (PPI-REE OR [95% CI] = 0.12 [0.02,0.67], P = 0.02; complete PPI-REE outcome OR [95% CI] = 0.15[0.03, 0.94], P = 0.04. GOF phenotype that characterizes EMs is defined as carriers of 1 or 2 copies of rs12248560 (diplotypes *1/*17 + *17/*17) without rs4244285 (*2). Most individuals within the pH probe cohort received a PPI dose within the range of \udbff\udc031.569 to <2.075 mg/kg/ day, which corresponds well with the IQR dose range of \udbff\udc031.54 to <2.05 mg/kg/day for the full cohort.","sentence":"CYP2C19 *17 is associated with decreased response to esomeprazole in children with eosinophilic esophagitis as compared to CYP2C19 *1/*1.","alleles":"*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:eosinophilic esophagitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":982043737,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"no","notes":"No significant change in the likelihood of a woman reaching a target mean arterial pressure concentration of <= 92 mmHg or <= 107 mmHg was seen between genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with response to amlodipine in women with Hypertension as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449156016,"variant_haplotypes":"rs2236196","gene":"CHRNA4","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.; It is assumed that the authors tested the association between the G allele and nicotine dependence as compared to both the A and del alleles.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11933031","article_title":"Effect of CYP3A5 genotypes on pharmacokinetic of tacrolimus in colombian liver transplant patients","article_path":"articles/PMC11933031.md","variant_annotation_id":1453085302,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":40135234,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with CYP3A5 expressors displayed lower C0 and C0/dose ratio and higher doses than those no expressors, Table 1. We observed a lower C0/dose ratio in expresser recipients over 2 years of follow-up (Figure 1) (Table 2).\" \"This study reveals that expressing recipient patients presented significantly (p < 0.001) lower Co/dose, compared to non-expressing recipients, regardless of the genotype of the donor\u2019s liver in the first weeks after transplantation. \"","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Liver transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5404990","article_title":"A cis-eQTL in OPRM1 is Associated with Subjective Response to Alcohol and Alcohol Use","article_path":"articles/PMC5404990.md","variant_annotation_id":1450824458,"variant_haplotypes":"rs3778150","gene":"OPRM1","drugs":"ethanol","pmid":28273335,"phenotype_category":"Dosage","significance":"yes","notes":"Subjects carrying the C allele had significantly higher drinking levels compared to individuals with the TT genotype.","sentence":"Genotypes CC + CT are associated with increased dose of ethanol as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3260990","article_title":"Smoking Cessation Pharmacogenetics: Analysis of Varenicline and Bupropion in Placebo-Controlled Clinical Trials","article_path":"articles/PMC3260990.md","variant_annotation_id":1450813804,"variant_haplotypes":"rs8109525","gene":"CYP2B6","drugs":"bupropion","pmid":22048466,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotypes were more likely to have quit smoking in weeks 9-12 of varenicline treatment and at 52 weeks of follow-up.","sentence":"Genotype GG is associated with increased response to bupropion in people with Tobacco Use Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700217,"variant_haplotypes":"rs1130609","gene":"RRM2","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"As measured by a poorer overall survival.","sentence":"Genotypes GT + TT is associated with decreased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotype GG.","alleles":"GT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483674,"variant_haplotypes":"rs11045872","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is associated with increased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4479153","article_title":"Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response","article_path":"articles/PMC4479153.md","variant_annotation_id":1444703466,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"allopurinol","pmid":25676789,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors designated \"response to allopurinol\" as a reduction of serum uric acid levels to below 6 mg/dL. Mean age was 68 years, 75% were male. The elevated mean baseline SUA before treatment was 8.9 mg/dL. No other SNPs reached genome wide significance.","sentence":"Allele T is associated with decreased response to allopurinol in people with Gout as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935720,"variant_haplotypes":"rs145119820","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the A allele was 10.7% of that of the WT protein. Variant referred to as 337G>A in the paper.","sentence":"Allele A is associated with decreased clearance of mephenytoin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6081148","article_title":"Role of TNFRSF1A and TNFRSF1B polymorphisms in susceptibility, severity, and therapeutic efficacy of etanercept in human leukocyte antigen-B27-positive Chinese Han patients with ankylosing spondylitis","article_path":"articles/PMC6081148.md","variant_annotation_id":1449713726,"variant_haplotypes":"rs2234649","gene":"TNFRSF1A","drugs":"etanercept","pmid":30075559,"phenotype_category":"Efficacy","significance":"no","notes":"Response to etanercept was determined using the Assessment in Ankylosing Spondylitis 20 (ASAS20) and Assessment in Ankylosing Spondylitis 40 (ASAS40). No significant difference in response was seen between genotypes at either 3 months or 12 months after initiation of etanercept treatment. Please note that alleles have been complemented to the positive strand. Also note that there appears to be a typo in Figure 1 where rs2234649 is written as rs223464.","sentence":"Genotype GT is not associated with response to etanercept in people with Spondylitis, Ankylosing as compared to genotypes GG + TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Spondylitis, Ankylosing","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448519775,"variant_haplotypes":"CYP3A4*1, CYP3A4*3","gene":"CYP3A4","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant associations were seen between these *1B (\u2212329 A>G) and *3 (1334 T>C) and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"CYP3A4 *1 + *3 are not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms.","alleles":"*1 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046676,"variant_haplotypes":"rs1043550","gene":"CALU","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype AA is not associated with increased dose of phenprocoumon as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11786019","article_title":"The Role of Candidate Polymorphisms in Drug Transporter Genes on High\u2010Dose Methotrexate in the Consolidation Phase of the AIEOP\u2010BFM ALL 2009 Protocol","article_path":"articles/PMC11786019.md","variant_annotation_id":1452833080,"variant_haplotypes":"rs7317112","gene":"ABCC4","drugs":"methotrexate","pmid":39891427,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"MTX plasma levels at 24, 42, and 48 h were lower for young rs7317112 GG patients (group A) compared to rs7317112 non- GG teens (group D), with a clearly higher clearance of the drug (Figure\u00a02).\" \"ABCC4 SNP (rs7317112): Carriers of the variant GG genotype showed accelerated MTX clearance\"","sentence":"Genotype GG is associated with increased clearance of methotrexate in children with Acute lymphoblastic leukemia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680871,"variant_haplotypes":"rs1054191","gene":"NR1I2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype GG is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4155516","article_title":"Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes","article_path":"articles/PMC4155516.md","variant_annotation_id":1184748470,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":25084200,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Significantly lower trough concentrations (adjusted for daily dose) were observed in patients with the *17/*17 diplotype. All four patients with this diplotype had subtherapeutic levels - authors suggest that higher doses in these patients may overcome this. CYP2C19*17 was defined as rs12248560 c.-806C>T, *2A as rs4244285 c.681G>A, *2B as rs4244285 and rs17878459 c.276G>C, and *1 as none of these variants.","sentence":"CYP2C19 *17/*17 (assigned as ultrarapid metabolizer phenotype) is associated with decreased dose-adjusted trough concentrations of voriconazole in children with Neoplasms as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*17/*17","specialty_population":"Pediatric","metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238760,"variant_haplotypes":"rs1869295","gene":"AGAP1","drugs":"risperidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to risperidone in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003619,"variant_haplotypes":"rs3842","gene":"ABCB1","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine were not significantly different and no more likely to have median concentrations of lumefantrine >600 ng/ml between genotypes.","sentence":"Allele C is not associated with concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161695,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in concentrations of (R)-, (S)- or (R,S)-methadone concentrations between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP2C19 *1/*2 + *2/*2 are not associated with concentrations of methadone in people with Opioid-Related Disorders as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407420,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"not stated","notes":"Nominally significant difference in pressure pain at the masseter between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotype AG is not associated with increased response to morphine in healthy individuals as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4820801","article_title":"Prediction of tacrolimus metabolism and dosage requirements based on CYP3A4 phenotype and CYP3A5*3 genotype in Chinese renal transplant recipients","article_path":"articles/PMC4820801.md","variant_annotation_id":1448640957,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26924289,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The study also provided a regression equation to predict trough concentration and dose of tacrolimus based on CYP3A5 genotype, among other factors.","sentence":"CYP3A5 *3/*3 is associated with decreased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC11773121","article_title":"Sub\u2010 and supratherapeutic efavirenz plasma concentrations with risk for HIV therapy failure are mainly genetically explained in Ugandan children: The prospective GENEFA cohort study","article_path":"articles/PMC11773121.md","variant_annotation_id":1452639906,"variant_haplotypes":"CYP2B6 intermediate metabolizer","gene":"CYP2B6","drugs":"efavirenz","pmid":39380207,"phenotype_category":"Efficacy","significance":"no","notes":"\"extensive metabolizer (EM), 516GGj983TT, intermediate metabolizer (IM), 516GGj983TC or 516GTj983TT, slow metabolizer (SM) 516GTj983TC or 516TTj983TT. \"HIV drug resistance at baseline, viraemia and acquisition of new HIV drug-resistant mutations at Week 24 were all more frequent among EM and IM compared to SM (n.s.) (Table S2).\"","sentence":"CYP2B6 normal metabolizer and intermediate metabolizer is associated with increased resistance to efavirenz in children with HIV infectious disease as compared to CYP2B6 poor metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003191,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"oxymorphone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The AUC for oxymorphone was significantly lower in poor metabolizers than in extensive metabolizers.","sentence":"CYP2D6 poor metabolizer is associated with decreased exposure to oxymorphone in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC10337687","article_title":"Association Between Vitamin D Receptor Polymorphism and the Response to Helicobacter Pylori Treatment","article_path":"articles/PMC10337687.md","variant_annotation_id":1452156500,"variant_haplotypes":"rs2228570","gene":"VDR","drugs":"amoxicillin, clarithromycin, omeprazole","pmid":37449247,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented to plus chromosomal strand.","sentence":"Allele A is associated with increased response to amoxicillin, clarithromycin and omeprazole in people with Helicobacter Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450814996,"variant_haplotypes":"rs8050896","gene":null,"drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of T alleles present in a patient was negatively associated with CGI-S score.","sentence":"Allele T is associated with increased response to risperidone in people with Schizophrenia as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3852421","article_title":"Inclusion of CYP3A5 genotyping in a nonparametric population model improves dosing of tacrolimus early after transplantation","article_path":"articles/PMC3852421.md","variant_annotation_id":1184515224,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":24118301,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients with the CT genotype had 26% higher clearance (p=0.08) and 37% lower bioavailability (no p-value given) as compared to those with the CC genotype. The primary aim of the present analysis was to develop a nonparametric population pharmacokinetic model for future use for tacrolimus dosing in a clinical prospective setting in renal transplant recipients. Initially, knowledge of each patient's CYP3A5 genotype improves the predictions, but after obtaining three to four Tac trough concentrations, the model does at least as well without the CYP3A5 genotype information.","sentence":"Genotype CT is associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5145728","article_title":"GENOME-WIDE AND GENE-BASED META-ANALYSES IDENTIFY NOVEL LOCI INFLUENCING BLOOD PRESSURE RESPONSE TO HYDROCHLOROTHIAZIDE","article_path":"articles/PMC5145728.md","variant_annotation_id":1448423632,"variant_haplotypes":"rs7553527","gene":"HSD3B1","drugs":"hydrochlorothiazide","pmid":27802415,"phenotype_category":"Efficacy","significance":"yes","notes":"Participants were from GENRES study, GERA-1 study, HCTZ-Milan study, NORDIL study, PEAR-1 study, PHSS study.","sentence":"Genotypes CC + CT is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6518412","article_title":"No Evidence That G6PD Deficiency Affects the Efficacy or Safety of Daunorubicin in Acute Lymphoblastic Leukemia Induction Therapy","article_path":"articles/PMC6518412.md","variant_annotation_id":1450935426,"variant_haplotypes":"G6PD deficiency","gene":"G6PD","drugs":"daunorubicin","pmid":30848065,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between G6PD deficient genotypes and the number of patients who achieve minimal residual disease (MRD) >1% following daunorubicin treatment.","sentence":"G6PD deficiency is not associated with response to daunorubicin in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147572,"variant_haplotypes":"rs67666821","gene":"CYP3A4","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the T allele. The T allele is also referred to in the paper as the CYP3A4*20 allele.","sentence":"Allele T is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele del.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046650,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage","significance":"yes","notes":"Daily dose of phenprocoumon is significantly associated with rs9923231 genotype in a gene dose effect: GG>AG>AA. Daily dose is also negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also significantly associated with phenprocoumon concentration in the same gene-dose effect (GG>AG>AA).","sentence":"Genotype CC is associated with increased dose of phenprocoumon as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8441053","article_title":"Factors associated with fluoxetine and norfluoxetine plasma concentrations and clinical response in Mexican patients with mental disorders","article_path":"articles/PMC8441053.md","variant_annotation_id":1451503480,"variant_haplotypes":"CYP2D6*1, CYP2D6*4, CYP2D6*10","gene":"CYP2D6","drugs":"fluoxetine","pmid":34523245,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For CYP2D6 phenotypes were assigned as CYP2D6 extensive (*1/*1, *10/*10, *1/*4, *1/*10), intermediate (*10/*4) and poor; (*4/*4) metabolizers using CYP2D6*4 (rs3892097), and CYP2D6*10 (rs1065852). Also, CYP2D6 extensive metabolizers had almost twice; the value of norfluoxetine/fluoxetine ratios (0.9 (0.7\u20131.7)) than; patients with CYP2D6 intermediate metabolism (0.5 (0.3\u20130.8))","sentence":"CYP2D6 *1/*1 + *10/*10 + *1/*4 + *1/*10 (assigned as normal metabolizer phenotype) is associated with decreased concentrations of fluoxetine in people with Anxiety Disorders, Depression or Depressive Disorder, Major as compared to CYP2D6 *10/*4 (assigned as intermediate metabolizer phenotype) .","alleles":"*1/*1 + *10/*10 + *1/*4 + *1/*10","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Anxiety Disorders, Other:Depression, Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*10/*4","comparison_metabolizer_types":"intermediate metabolizer"} -{"pmcid":"PMC3044738","article_title":"Response Prediction in Chronic Hepatitis C by Assessment of IP-10 and IL28B-Related Single Nucleotide Polymorphisms","article_path":"articles/PMC3044738.md","variant_annotation_id":982031621,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":21390311,"phenotype_category":"Efficacy","significance":"no","notes":"Though this SNP is not directly linked to response, it is associated with significantly lower baseline plasma levels of IP-10. Lower levels of IP-10 were found to be statistically significantly associated with better treatment outcome. This SNP was found to be in strong linkage disequilibrium with rs12979860.","sentence":"Genotype TT is not associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747012,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*5, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *5 is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*5","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} -{"pmcid":"PMC5469860","article_title":"Association of Polymorphisms in Pharmacogenetic Candidate Genes with Propofol Susceptibility","article_path":"articles/PMC5469860.md","variant_annotation_id":1448639490,"variant_haplotypes":"rs2279020","gene":"GABRA1","drugs":"propofol","pmid":28611364,"phenotype_category":"Other","significance":"yes","notes":"The GG (57.15\u00b113.29) genotype was associated with lower BIS values as compared with the AA and AG genotypes vs. (61.43\u00b110.51) indicating increased susceptibility to propofol in GG genotype. Please note: the authors examined 58 SNPs but did not do multiple testing corrections.; However, the GG genotype was also associated with a smaller decrease in mean arterial pressure (MAP) after propofol as compared to the AG+ AA genotypes (-9.44% vs. -12.16%). Please note: the authors examined 58 SNPs but did not do multiple testing corrections.","sentence":"Genotype GG is associated with increased response to propofol as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC2921956","article_title":"Identification of novel CYP2A6*1B variants; the CYP2A6*1B allele is associated with faster in vivo nicotine metabolism","article_path":"articles/PMC2921956.md","variant_annotation_id":827705098,"variant_haplotypes":"CYP2A6*1, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":17522595,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Includes alleles *1B1-*1B15. Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar.","sentence":"CYP2A6 *1/*46 is associated with increased clearance of nicotine as compared to CYP2A6 *1/*1.","alleles":"*1/*46","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC8954661","article_title":"The Association between ABCG2 421C>A (rs2231142) Polymorphism and Rosuvastatin Pharmacokinetics: A Systematic Review and Meta-Analysis","article_path":"articles/PMC8954661.md","variant_annotation_id":1451732760,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"rosuvastatin","pmid":35335877,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. Meta-analysis of 8 studies looking at AUC and Cmax of rosuvastatin.","sentence":"Genotypes GT + TT is associated with increased concentrations of rosuvastatin as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC8472669","article_title":"Genetic Polymorphisms of GGH and ABCC2 Are Associated with Methotrexate Intolerance in Patients with Rheumatoid Arthritis","article_path":"articles/PMC8472669.md","variant_annotation_id":1451535103,"variant_haplotypes":"rs11545078","gene":"GGH","drugs":"methotrexate","pmid":34575187,"phenotype_category":"Toxicity","significance":"yes","notes":"Patients receiving MTX and bDMARD treatment (combined treatment) at the time of the study were considered \u201ctolerant\u201d to MTX. Patients receiving bDMARD monotherapy at the study visit were asked about the reason for MTX discontinuation. In cases of discontinuation due to adverse events or toxicity (such as nausea; vomiting; dyspepsia; alopecia; oral ulcers; leukopenia; hepatic alterations, defined as alanine aminotransferase levels greater than 1.5 times the upper normal limit; or pulmonary toxicity), these patients were considered \u201cintolerant\u201d to MTX.","sentence":"Genotypes AA + AG is associated with increased discontinuation of methotrexate in people with Arthritis, Rheumatoid as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3726442","article_title":"Relationship between Genotypes Sult1a2 and Cyp2d6 and Tamoxifen Metabolism in Breast Cancer Patients","article_path":"articles/PMC3726442.md","variant_annotation_id":1451097180,"variant_haplotypes":"rs1136703","gene":"SULT1A2","drugs":"4-hydroxytamoxifen, endoxifen","pmid":23922954,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as part of haplotype *1*1 vs *1/*2 + *2/*2 (rs1136703A>G and rs1059491T>G). Pre and postmenopausal woman with estrogen receptor-positive breast cancer undergoing tam treatment after surgery and chemotherapy/radiation. Patients were excluded if tamoxifen therapy was started with either chemotherapy or radiation.","sentence":"Genotype AA are associated with decreased concentrations of 4-hydroxytamoxifen or endoxifen in women with Breast Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3249179","article_title":"The relationship between clinical pharmacokinetics of aripiprazole and CYP2D6 genetic polymorphism: effects of CYP enzyme inhibition by coadministration of paroxetine or fluvoxamine","article_path":"articles/PMC3249179.md","variant_annotation_id":1183697499,"variant_haplotypes":"CYP2D6*1, CYP2D6*5, CYP2D6*10, CYP2D6*21","gene":"CYP2D6","drugs":"aripiprazole","pmid":21739267,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The coadministration of fluvoxamine did not cause a large difference in aripiprazole metabolism in extensive metabolizers as compared to intermediate metabolizers.","sentence":"CYP2D6 *1/*1 + *1/*10 + *1/*21 + *1/*5 (assigned as normal metabolizer phenotype) are not associated with decreased metabolism of aripiprazole in healthy individuals also being given fluvoxamine as compared to CYP2D6 *10/*10 + *5/*10 (assigned as intermediate metabolizer phenotype) .","alleles":"*1/*1 + *1/*10 + *1/*21 + *1/*5","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":"Other:also being given fluvoxamine","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*10/*10 + *5/*10","comparison_metabolizer_types":"intermediate metabolizer"} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874661,"variant_haplotypes":"rs10248420","gene":"ABCB1","drugs":"clozapine","pmid":40048458,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and benefit, PANSS beta is in Table negative. \"four SNPs in two genes were significantly associated with the total PANSS score: rs7787082 and rs10248420 in ABCB1 and rs2133251840 and rs762502 in DRD4 (Table 5). Among these, only one SNP in DRD4 (rs2133251840) resulted in different total PANSS scores at visits 3 and 4 according to its genotype\"","sentence":"Allele G is associated with increased clinical benefit to clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6231319","article_title":"ADRB2 Gene Polymorphisms and Salbutamol Responsiveness in Serbian Children with Asthma","article_path":"articles/PMC6231319.md","variant_annotation_id":1451341440,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"salmeterol","pmid":30425908,"phenotype_category":"Efficacy","significance":"yes","notes":"The presence of the G allele in the ADRB2 variant +46A>G correlates with better bronchodilator response to salbutamol.","sentence":"Allele G is associated with increased response to salmeterol in children Asthma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11605493","article_title":"Genetic polymorphisms to identify patients with an optimal response to tildrakizumab in psoriasis patients from real\u2010life clinical practice","article_path":"articles/PMC11605493.md","variant_annotation_id":1452554380,"variant_haplotypes":"rs610604","gene":"TNFAIP3","drugs":"tildrakizumab","pmid":39081053,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Our data also suggest that patients carrying the genotype GG for rs610604 (TNFAIP3), CTGT/\u2212 for rs72167053 (PDE4D) and CT for rs9373839 (ATG5) had a higher probability to not achieve PASI \u22641 after 12\u2009months of tildrakizumab treatment, while those with CT for rs708567 (IL17RC) have a higher chance to have an optimal response to this treatment.\"","sentence":"Genotype GG is associated with decreased clinical benefit to tildrakizumab in people with Psoriasis as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11012255","article_title":"Single Nucleotide Polymorphisms of CYP3A4 and CYP3A5 in Romanian Kidney Transplant Recipients: Effect on Tacrolimus Pharmacokinetics in a Single-Center Experience","article_path":"articles/PMC11012255.md","variant_annotation_id":1452443520,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":38610733,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"For the CYP3A4*22 allele, the C0/D ratio did not differ significantly between non-carriers and carriers (p = 0.413).\"","sentence":"CYP3A4 *22 is not associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5087931","article_title":"Limited Effect of Rebamipide in Addition to Proton Pump Inhibitor (PPI) in the Treatment of Post-Endoscopic Submucosal Dissection Gastric Ulcers: A Randomized Controlled Trial Comparing PPI Plus Rebamipide Combination Therapy with PPI Monotherapy","article_path":"articles/PMC5087931.md","variant_annotation_id":1451343340,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":27282261,"phenotype_category":"Efficacy","significance":"no","notes":"In patients with large artificial gastric ulcers after endoscopic submucosal dissection due to gastric adenoma or early gastric cancers. The S stage rates at 4 and 8 weeks were similar in the rabeprazole only or rabeprazole plus rebamipide, even in the subgroups of patients with large amounts of tissue resected and regardless of CYP2C19 genotype.","sentence":"CYP2C19 *2 + *3 are not associated with response to rabeprazole in people with Ulcer as compared to CYP2C19 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Ulcer","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002981,"variant_haplotypes":"rs3788200","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710781,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"N-desmethyltamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The association was not significant but a stepwise decrease in median 4-hydroxytamoxifen concentration was observed when comparing patients with zero, one or two copies of the CYP2D6*10 allele. Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood and screened for the following: *2 (2850C>T; rs16947), *2A (\u20131584C>G), *3 (2549delA; rs35742686), *4 (1846G>A; rs3892097), *5 (CYP2D6del), *6 (1707delT; rs5030655), *7 (2935A>C; rs5030867), *8 (1758G>T), *9 (2615-2617delAAG; rs5030656), *10 (100C>T; rs1065852), *12 (124G>A; rs5030862), *14 (1758G>A), *17 (1023C>T; rs28371706), *29 (1659G>A; rs61736512), *41 (2988G>A; rs28371725) and *xN (dup). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 *10/*10 + *1/*10 is associated with increased concentrations of n-desmethyltamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1.","alleles":"*10/*10 + *1/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180328,"variant_haplotypes":"rs1947274","gene":"ADGRL3","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5192124","article_title":"Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals","article_path":"articles/PMC5192124.md","variant_annotation_id":1448423603,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"rilpivirine","pmid":27799217,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of rilpivirine in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491421,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As shown by increased plasma concentrations (units = mg/L) for those with the GT genotype compared to those with the GG genotype. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"Genotype GT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2668081","article_title":"Contribution of the activities of CYP3A, CYP2D6, CYP1A2 and other potential covariates to the disposition of methadone in patients undergoing methadone maintenance treatment","article_path":"articles/PMC2668081.md","variant_annotation_id":1451158041,"variant_haplotypes":"low activity","gene":null,"drugs":"methadone","pmid":19133059,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A phenotyping carried out using midazolam.","sentence":"CYP3A low activity is associated with increased trough concentration of methadone as compared to CYP3A high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} -{"pmcid":"PMC4115247","article_title":"GENETIC VARIATION IN CYP4A11 AND BLOOD PRESSURE RESPONSE TO MINERALOCORTICOID RECEPTOR ANTAGONISM OR ENAC INHIBITION: AN EXPLORATORY PILOT STUDY IN AFRICAN AMERICANS","article_path":"articles/PMC4115247.md","variant_annotation_id":1450821104,"variant_haplotypes":"rs3890011","gene":"CYP4A11","drugs":"spironolactone","pmid":25064769,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant was in complete disequilibrium with rs1126742. Alleles are reported as described in the paper however, because this is a G/C SNP, users should be aware that there is ambiguity as to whether the alleles are reported as on the positive strand. Patients with the CC genotype and receiving spironolactone monotherapy did not have a reduction in systolic or diastolic blood pressure while those with the CG or GG genotypes did.","sentence":"Genotype CC is associated with decreased response to spironolactone in people with Hypertension as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5508045","article_title":"The impact of non-genetic and genetic factors on a stable warfarin dose in Thai patients","article_path":"articles/PMC5508045.md","variant_annotation_id":1448624157,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28550460,"phenotype_category":"Dosage","significance":"yes","notes":"Please note: alleles have been complemented to the + strand.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism or Venous Thrombosis as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388216,"variant_haplotypes":"rs12418","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper)","sentence":"Allele A is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8767566","article_title":"Effect of HIV, antiretrovirals, and genetics on methadone pharmacokinetics: Results from the methadone antiretroviral pharmacokinetics study","article_path":"articles/PMC8767566.md","variant_annotation_id":1451516600,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"(S)-methadone","pmid":34482033,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"The CYP 2B6*4 variant decreased S-methadone CL/F by 18%. \"","sentence":"Allele G is associated with decreased clearance of (S)-methadone in people with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636647,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The AG allele was associated with 2.7-fold higher everolimus concentrations compared to the GG genotype. There were no individuals with the AA genotype. Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotype AG is associated with increased concentrations of everolimus in women with Breast Neoplasms as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934374,"variant_haplotypes":"rs104894828","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Arg301Gln in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11638344","article_title":"Effect of SLC22A1 polymorphism on the pharmacokinetics of proguanil in Korean: A semi\u2010physiologic population pharmacokinetic approach","article_path":"articles/PMC11638344.md","variant_annotation_id":1452786480,"variant_haplotypes":"rs2282143","gene":"SLC22A1","drugs":"proguanil","pmid":39668580,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"The CT genotype showed a 1.2\u2010fold higher systemic exposure of proguanil and a 0.6\u2010fold lower exposure of cycloguanil compared to those in subjects with the CC genotype, resulting in a 0.5 to 0.6\u2010fold lower metabolic ratio. \"","sentence":"Genotype CT is associated with increased exposure to proguanil in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450932019,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and consumption of sufentanil. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6142943","article_title":"Association of Genetic Variants With Response to Anti\u2013Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration","article_path":"articles/PMC6142943.md","variant_annotation_id":1449566972,"variant_haplotypes":"rs13002976","gene":null,"drugs":"bevacizumab, ranibizumab","pmid":29852030,"phenotype_category":"Efficacy","significance":"no","notes":"The authors performed GWAS in a discovery cohort, and did a replication analysis.","sentence":"Allele G is not associated with response to bevacizumab and ranibizumab in people with as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811601,"variant_haplotypes":"rs2235067","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele C is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995927,"variant_haplotypes":"rs33980500","gene":"TRAF3IP2","drugs":"adalimumab","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"At six months after beginning treatment, a significant association between rs33980500 and decreased response to TNF inhibitors (i.e. etanercapt and adalimumab) in terms of the number of patients in remission (p=0.02, OR=0.09, C.I.=0.01-0.70) or with low disease activity (p=0.013, OR=0.1, C.I.=0.02-0.87) was seen across the whole cohort, but was not seen at two years after beginning treatment and could not be replicated in the subgroups for each individual drug.","sentence":"Allele T is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794208,"variant_haplotypes":"rs760370","gene":"SLC29A1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Patients with the GG genotype has worse tumor response to treatment with gemcitabine than patients with the AG or AA genotypes. However, progression free survival and risk of neutropenia development did not significantly differ between genotype groups. There were four SNPs in this study that, when taken together, affected progression free survival: rs183484, rs2072671, rs760370, and rs9937. Using patients with 0 or 1 variant as reference, patients with 2 variants had an increased HR of 1.79 (P = 0.004) and patients with 3-4 variants has an increased HR of 3.25 (P < 0.001). There were also two SNPs in this study that, when taken together, affected tumor response to therapy: rs2072671 and rs760370. Using patients with 0 variants as reference, patients with 1-2 variants had an increased OR of 3.40 (P = 0.004).","sentence":"Genotype GG is associated with decreased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694858,"variant_haplotypes":"rs4880","gene":"SOD2","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1184886901,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5483245","article_title":"Independent and interactive effects of OPRM1 and DAT1 polymorphisms on alcohol consumption and subjective responses in social drinkers","article_path":"articles/PMC5483245.md","variant_annotation_id":1450826531,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":28376280,"phenotype_category":"Other","significance":"no","notes":"No significant independent effects of OPRM1 genotype on subjective measures of alcohol response (SHAS, DEQ VAS, BAES or POMS).","sentence":"Allele G is not associated with response to ethanol in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811713,"variant_haplotypes":"rs3778148","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"The T allele was associated with increased scores in the dizzy, drunk, high, nausea, talkative and uncomfortable traits as well as increased total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is associated with increased response to ethanol as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510520,"variant_haplotypes":"rs6280","gene":"DRD3","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002).","sentence":"Genotype TT is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5908896","article_title":"Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC5908896.md","variant_annotation_id":1449557376,"variant_haplotypes":"rs12717991","gene":"VDR","drugs":"irinotecan","pmid":29706892,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with metabolism of irinotecan in people with Colorectal Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164097,"variant_haplotypes":"rs4841588","gene":"GATA4","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"no","notes":"Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Allele G is not associated with dose of warfarin as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479892,"variant_haplotypes":"rs2527927","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043158,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CT genotype had significantly lower plasma Cmax, AUC and drug half-life. This variant was described as 521T>C.","sentence":"Genotype CT is associated with increased metabolism of pravastatin in children with Transplantation as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5346875","article_title":"Theory\u2010based pharmacokinetics and pharmacodynamics of S\u2010 and R\u2010warfarin and effects on international normalized ratio: influence of body size, composition and genotype in cardiac surgery patients","article_path":"articles/PMC5346875.md","variant_annotation_id":1448276214,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":27763679,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The *1/*3 diplotype was associated with increased clearance of R-warfarin but decreased clearance of S-warfarin.","sentence":"CYP2C9 *1/*3 is associated with clearance of warfarin in people with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6038204","article_title":"Genotype-guided versus traditional clinical dosing of warfarin in patients of Asian ancestry: a randomized controlled trial","article_path":"articles/PMC6038204.md","variant_annotation_id":1449577166,"variant_haplotypes":"CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":29986700,"phenotype_category":"Dosage","significance":"not stated","notes":"used in a study comparing genotype-guided dosing vs conventional for warfarin initiation.","sentence":"CYP2C9 *3 is associated with dose of warfarin in people with Atrial Fibrillation, Pulmonary Embolism, Stroke and Venous Thrombosis.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Pulmonary Embolism, Disease:Stroke, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407860,"variant_haplotypes":"rs4633","gene":"COMT","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"yes","notes":"Significant difference in pressure pain at the ulna between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotype CC is associated with decreased response to butorphanol in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679200,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":34910759,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9701885","article_title":"Association between rs1799971 in the mu opioid receptor gene and methadone maintenance treatment response","article_path":"articles/PMC9701885.md","variant_annotation_id":1451927202,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":36305091,"phenotype_category":"Dosage","significance":"no","notes":"not significant in any model (recessive/dominant/additive/allelic) in primary study nor in meta-analysis.","sentence":"Allele A is not associated with increased dose of methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678461,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype TT is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553460,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Patients with the TT genotype did not have significantly different methotrexate plasma levels compared to those with the GG genotype.","sentence":"Genotype GT is associated with increased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"GT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10159199","article_title":"Effect of ERCC1 polymorphisms on the response to platinum-based chemotherapy: A systematic review and meta-analysis based on Asian population","article_path":"articles/PMC10159199.md","variant_annotation_id":1452094780,"variant_haplotypes":"rs11615","gene":"ERCC1","drugs":"Platinum compounds","pmid":37141338,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Authors perform meta-analysis using several models looking at response and OS and subgroup analysis by cancer type.","sentence":"Genotypes AG + GG is associated with increased clinical benefit to Platinum compounds in people with Ovarian Neoplasms, Esophageal Neoplasms or Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Ovarian Neoplasms, Other:Neoplasm of esophagus, Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6760244","article_title":"NEUROIMAGING FINDINGS FROM AN EXPERIMENTAL PHARMACOLOGY TRIAL OF NALTREXONE IN HEAVY DRINKERS OF EAST ASIAN DESCENT","article_path":"articles/PMC6760244.md","variant_annotation_id":1451351843,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":31160146,"phenotype_category":"Efficacy","significance":"no","notes":"No significant genotype x medication interaction on alcohol taste cues.","sentence":"Allele G is not associated with response to naltrexone in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC1237155","article_title":"A Prospective, Randomized Pilot Trial of Model-Based Warfarin Dose Initiation using CYP2C9 Genotype and Clinical Data","article_path":"articles/PMC1237155.md","variant_annotation_id":1183701565,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":16160068,"phenotype_category":"Dosage","significance":"no","notes":"This was a pilot study to compare traditional and PGx-guided dosing.","sentence":"CYP2C9 *3 is associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4157963","article_title":"TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population","article_path":"articles/PMC4157963.md","variant_annotation_id":1450376100,"variant_haplotypes":"rs795484","gene":"TAOK3","drugs":"morphine","pmid":24909733,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Association described as 'nominally significant' in the paper and was only seen in European Caucasian patients. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is associated with increased dose of morphine in children with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4931969","article_title":"Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment","article_path":"articles/PMC4931969.md","variant_annotation_id":1447680625,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"selective beta-2-adrenoreceptor agonists","pmid":26774659,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to selective beta-2-adrenoreceptor agonists in children with Asthma as compared to genotype GG.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4943245","article_title":"Individualized Angiotensin\u2010Converting Enzyme (ACE)\u2010Inhibitor Therapy in Stable Coronary Artery Disease Based on Clinical and Pharmacogenetic Determinants: The PERindopril GENEtic (PERGENE) Risk Model","article_path":"articles/PMC4943245.md","variant_annotation_id":1447964381,"variant_haplotypes":"rs275651","gene":"AGTR1","drugs":"perindopril","pmid":27021566,"phenotype_category":"Efficacy","significance":"yes","notes":"Three SNPS are combined for a risk score ranging between 0 and 6: rs275651, rs5182, and rs12050217. Patients with risk scores of 0 and 1 and treated with perindopril had absolute risk reductions of 7.50% (95% CI: 3.69-11.73) and 4.30% (95% CI: 2.00-6.53), respectively. Nonsignificant estimated absolute risk increase of 1.32% was observed in patients with a PGXscore >=3. Lower risk score had better response to treatment by primary endpoint of cardiovascular mortality, nonfatal MI, and resuscitated cardiac arrest. Part of PERGENE trial for cardiovascular outcomes.","sentence":"Genotypes AA + AT is associated with decreased response to perindopril in people with Coronary Artery Disease as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3016221","article_title":"Genetic variants in the KIF6 region and coronary event reduction from statin therapy","article_path":"articles/PMC3016221.md","variant_annotation_id":981482129,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"atorvastatin, pravastatin","pmid":20886236,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased response to atorvastatin or pravastatin as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133680,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in improvement in pain scores between genotype groups.","sentence":"Allele G is not associated with response to morphine and nortriptyline in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3330749","article_title":"Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study","article_path":"articles/PMC3330749.md","variant_annotation_id":1447519932,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":19752777,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553466,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501889,"variant_haplotypes":"rs28365063","gene":"UGT2B7","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Genotype AA is associated with decreased clearance of carbamazepine in people with Epilepsy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449166202,"variant_haplotypes":"rs3825018","gene":"SLC22A12","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of allopurinol in people with Gout as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4730664","article_title":"The role of CYP3A5 polymorphism and dose adjustments following conversion of twice-daily to once-daily tacrolimus in renal transplant recipients","article_path":"articles/PMC4730664.md","variant_annotation_id":1447946767,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26823971,"phenotype_category":"Dosage","significance":"yes","notes":"Patients converting from tacrolimus 2X daily (BID) to tacrolimus 1X daily (OD). Pre- and post-conversion, those with the *1/*3 genotype had significantly higher dose requirements as compared to those with the *3/*3 genotype.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5604555","article_title":"Variability of the drug response to nonsteroidal anti-inflammatory drugs according to cyclooxygenase-2 genetic polymorphism","article_path":"articles/PMC5604555.md","variant_annotation_id":1450373027,"variant_haplotypes":"rs689466","gene":"PTGS2","drugs":"celecoxib","pmid":29066864,"phenotype_category":"Efficacy","significance":"yes","notes":"in terms of COX-2 inhibition. COX-2 activity was estimated by measuring the blood PGE2 level. The area under the effect curve (AUEC) of the rs689466 GG genotype was significantly lower than that for the AA or AG genotype.","sentence":"Genotype CC is associated with increased response to celecoxib in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3579261","article_title":"Population pharmacokinetics of unbound mycophenolic acid in adult allogeneic haematopoietic cell transplantation: effect of pharmacogenetic factors","article_path":"articles/PMC3579261.md","variant_annotation_id":1448107192,"variant_haplotypes":"rs10187694","gene":"UGT1A10","drugs":"mycophenolic acid","pmid":22765258,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotype GG is not associated with any pharmacokinetic parameters measured in the study when exposed to mycophenolic acid as compared to genotype AA.","sentence":"Genotype GG is not associated with metabolism of mycophenolic acid as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5883590","article_title":"Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome","article_path":"articles/PMC5883590.md","variant_annotation_id":1449748471,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29615122,"phenotype_category":"Efficacy","significance":"no","notes":"This variant did not affect the clinical efficacy of tacrolimus. Effective response included patients with complete or partial remission, and ineffective response included patients with no remission or recurrence.","sentence":"CYP3A5 *3 is not associated with response to tacrolimus in people with Nephrotic Syndrome as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nephrotic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479812,"variant_haplotypes":"rs6960542","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107275,"variant_haplotypes":"rs5443","gene":"GNB3","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or white patients.","sentence":"Allele T is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":1450980620,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"With *1/*2 (AG) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA\"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs9923231, rs2884737, rs8050894, and rs2359612 to define HaplotypeA.","sentence":"Genotype AA is associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3505921","article_title":"Influence of Methylenetetrahydrofolate Reductase C677T, A1298C, and G80A Polymorphisms on the Survival of Pediatric Patients with Acute Lymphoblastic Leukemia","article_path":"articles/PMC3505921.md","variant_annotation_id":1451506360,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":23198157,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Association only seen at the 24 hour timepoint and not at 48 hours. Variant referred to in the paper as G80A. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is associated with decreased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043181,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CT genotype had greater increases in HDL cholesterol but smaller decreases in total cholesterol and LDL cholesterol. This variant was described as 521T>C.","sentence":"Genotype CT is associated with increased response to pravastatin in children with Transplantation as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296694,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"only in European Americans, but not African Americans. The dose increase per variant allele was higher among European Americans (5.89% vs 1.23%) compared with African Americans.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6855320","article_title":"CYP2C19 and STAT6 Variants Influence the Outcome of Proton Pump Inhibitor Therapy in Pediatric Eosinophilic Esophagitis","article_path":"articles/PMC6855320.md","variant_annotation_id":1451273890,"variant_haplotypes":"rs1059513","gene":"STAT6","drugs":"esomeprazole","pmid":31490856,"phenotype_category":"Efficacy","significance":"yes","notes":"NOTE: Alleles are not provided in article. For PPI-REE outcome (dominant genetic model, covariates as above), individuals who carried 1 or 2 copies of rs1059513 had 6.2-fold better odds of achieving a PPI responsive esophageal eosinophilia (PPI-REE) outcome after PPI therapy than individuals who did not carry rs1059513 (PPI-REE OR [95% CI] = 6.16 [1.44, 26.35], P = 0.028)","sentence":"Genotypes CC + CT are associated with increased response to esomeprazole in children with eosinophilic esophagitis as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:eosinophilic esophagitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114066,"variant_haplotypes":"rs997917","gene":"OPRK1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2432487","article_title":"Effect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians","article_path":"articles/PMC2432487.md","variant_annotation_id":1183623444,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"lansoprazole, omeprazole","pmid":18241283,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the mean percentage of time with intragastric pH greater than 4.0 was seen between the genotypes in subjects taking omeprazole (10 mg/day) or lansoprazole (15 mg/day). Subjects were treated with either drug for 6 days, in a crossover fashion; mean percentage of time with intragastric pH greater than 4.0 was measured on day 1 and day 6 after initiation of treatment.","sentence":"CYP2C19 *1/*1 is not associated with response to lansoprazole or omeprazole in healthy individuals as compared to CYP2C19 *1/*2.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557987,"variant_haplotypes":"rs2650972","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694656,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"no","notes":"130 plasma samples were obtained 12 hours after the last dose of warfarin. The plasma warfarin concentrations of these samples were comparing plasma concentration within the group of patients with INR between 1.5\u20132.5 (n = 92) between genotype groups.","sentence":"Genotypes CT + TT are not associated with concentrations of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563840,"variant_haplotypes":"CYP2C9 intermediate metabolizer","gene":"CYP2C9","drugs":"phenytoin","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Sufficient data were available to meaningfully quantify the difference in phenytoin plasma concentrations between the different CYP2C9 and CYP2C19 metabolizer phenotypes. The CYP2C9 intermediate metabolizers had 46% (95% CI, 33%-61%) higher phenytoin plasma concentrations compared with the CYP2C9 normal metabolizers (Figure 2 and Table 3). Insufficient data were available for a meaningful analysis of the association between the very rare CYP2C9 poor metabolizers phenotype and differences in phenytoin plasma concentrations. However, the only study suitable for inclusion, which included 5 CYP2C9 poor metabolizers and 41 CYP2C9 normal metabolizers, showed a very profound increase in phenytoin plasma concentration of 134% in poor metabolizers compared with normal metabolizers.\" \"Decreased activity: CYP2C9*2: rs1799853; Abolished activity: CYP2C9*3: rs1057910\"","sentence":"CYP2C9 intermediate metabolizer is associated with increased concentrations of phenytoin as compared to CYP2C9 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477278,"variant_haplotypes":"rs3024530","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA genotype have a reduced frequency of asthma exacerbations compared to those with the AG + GG genotypes.","sentence":"Genotype AA is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5749368","article_title":"Genetics and clinical response to warfarin and edoxaban in patients with venous thromboembolism","article_path":"articles/PMC5749368.md","variant_annotation_id":1449005291,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":28689179,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9 and VKORC1 variants are analyzed together to divide patients into three warfarin sensitivity types (normal, sensitive and highly sensitive). \"Warfarin sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time over-anticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).\"","sentence":"CYP2C9 *2 + *3 are associated with decreased dose of warfarin in people with venous thromboembolism as compared to CYP2C9 *1/*1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Venous thromboembolism","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3985268","article_title":"Variation in P450 oxidoreductase (POR) A503V and flavin containing monooxygenase (FMO)-3 E158K is associated with minor alterations in nicotine metabolism but does not alter cigarette consumption","article_path":"articles/PMC3985268.md","variant_annotation_id":1452645003,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*24, CYP2A6*25, CYP2A6*26, CYP2A6*27, CYP2A6*28, CYP2A6*35","gene":"CYP2A6","drugs":"nicotine","pmid":24448396,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2A6 reduced metabolizers(participants with 1 or more of the alleles: *2,*4,*9,*17,*20,*23,*25-*28,*35,*12,*24) showed 50% higher nicotine AUC and 40% lower 3HC/COT in non-smokers.","sentence":"CYP2A6 *2 + *4 + *9 + *17 + *20 + *23 + *25 + *26 + *27 + *28 + *35 + *12 + *24 (assigned as low activity phenotype) is associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2 + *4 + *9 + *17 + *20 + *23 + *25 + *26 + *27 + *28 + *35 + *12 + *24","specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032460,"variant_haplotypes":"rs1948308","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rs4358872, rs2378676, and rs4877900 (r^2>0.7).","sentence":"Genotype GG is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC2168111","article_title":"Toll-Like Receptor 4 Polymorphism Associated with the Response to Whole-Cell Pertussis Vaccination in Children from the KOALA Study","article_path":"articles/PMC2168111.md","variant_annotation_id":1444702155,"variant_haplotypes":"rs2770150","gene":"TLR4","drugs":"Pertussis vaccines","pmid":17699831,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype had a lower pertussis toxin-specific immunoglobulin G (PT-IgG) titer following whole-cell pertussis vaccination as compared to those with the AG genotype. The IgG antibody titer against PT correlates with protection against disease. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is associated with decreased response to Pertussis vaccines in children as compared to genotype AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896233,"variant_haplotypes":"rs2043144","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC1773505","article_title":"Safe treatment of thiopurine S-methyltransferase deficient Crohn\u2019s disease patients with azathioprine","article_path":"articles/PMC1773505.md","variant_annotation_id":1184174034,"variant_haplotypes":"TPMT*1, TPMT*3A, TPMT*3C","gene":"TPMT","drugs":"azathioprine","pmid":12477776,"phenotype_category":"Dosage, Efficacy, Toxicity","significance":"not stated","notes":"Toxicity could be avoided and treatment was still effective if the azathioprine dose was dramatically lowered.","sentence":"TPMT *3A/*3C is associated with decreased dose of azathioprine in people with Crohn Disease as compared to TPMT *1/*1.","alleles":"*3A/*3C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Crohn Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4612590","article_title":"Pharmacogenetic Pathway Analysis of Docetaxel Elimination","article_path":"articles/PMC4612590.md","variant_annotation_id":1448107856,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"docetaxel","pmid":18509327,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The C allele corresponds with CYP3A*1B. The presence of the CYP3A4*1B and was associated with a 62% (P=0.055) increase in docetaxel clearance.","sentence":"Allele C is associated with increased clearance of docetaxel in people with Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359587,"variant_haplotypes":"rs11575553","gene":"DDC","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161780,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in methadone dose between genotypes. No details about which specific variants/alleles were tested for. Variant referred to as C3435T. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9585281","article_title":"Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention","article_path":"articles/PMC9585281.md","variant_annotation_id":1451930261,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"clopidogrel","pmid":36278153,"phenotype_category":"Efficacy","significance":"no","notes":"\"neither ABCC2 rs2273697 nor ABCC2 rs3740066 polymorphisms affected PAIR% values \"","sentence":"Genotype AA is not associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682504,"variant_haplotypes":"rs10048158","gene":null,"drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele C is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4280295","article_title":"Poor Warfarin Dose Prediction with Pharmacogenetic Algorithms that Exclude Genotypes Important for African Americans","article_path":"articles/PMC4280295.md","variant_annotation_id":1185235783,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":25461246,"phenotype_category":"Dosage","significance":"yes","notes":"Observed dose (mg/kg): GG (n=157) 8 (5.0\u20138.6), GA (n=97) 5.7 (4.3\u20137.5), AA (n=20) 5.2 (4.3\u20137.3) p=0.0047","sentence":"Genotypes AA + AG is associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678621,"variant_haplotypes":"rs1707","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"no","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). Neither were significantly associated with any genotype.","sentence":"Genotype CC is not associated with response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3016221","article_title":"Genetic variants in the KIF6 region and coronary event reduction from statin therapy","article_path":"articles/PMC3016221.md","variant_annotation_id":981482176,"variant_haplotypes":"rs9462535","gene":"KIF6","drugs":"atorvastatin, pravastatin","pmid":20886236,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AC are associated with increased response to atorvastatin or pravastatin.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4365300","article_title":"TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy","article_path":"articles/PMC4365300.md","variant_annotation_id":1444702693,"variant_haplotypes":"rs10499194","gene":null,"drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":25834819,"phenotype_category":"Efficacy","significance":"no","notes":"using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.","sentence":"Allele T is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5438821","article_title":"Sex Differences in the Blood Concentration of Tacrolimus in Systemic Lupus Erythematosus and Rheumatoid Arthritis Patients with CYP3A5*3/*3","article_path":"articles/PMC5438821.md","variant_annotation_id":1448612336,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":28324194,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in the dose-adjusted concentration of tacrolimus was seen between the genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with dose-adjusted trough concentrations of tacrolimus in people with Arthritis, Rheumatoid or Lupus Erythematosus, Systemic as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis, Disease:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171064,"variant_haplotypes":"rs2279344","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with concentrations of methadone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161460,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype or phenotype frequencies between responders and non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for.","sentence":"CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are not associated with response to methadone in people with Opioid-Related Disorders as compared to CYP2C9 *1/*1 + *1/*2.","alleles":"*1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874600,"variant_haplotypes":"rs2011404","gene":"UGT1A4","drugs":"clozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In the model adjusted for clinical predictors of clozapine concentration, including smoking status and cumulative dose of clozapine, five SNPs (rs28371726 and rs202102799 in CYP2D6; rs4148323 and rs34946978 in UGT1A1; and rs2011404 in UGT1A4) showed significant associations with clozapine concentration. The rs number for each SNP associated with clozapine concentration is shown in Table 3.\" Table does not state which allele or direction of effect for these SNPs, but lists as c.471T\u2009>\u2009C so assuming C as effect allele and increased concentration (beta value in table is positive).","sentence":"Allele C is associated with increased concentrations of clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3384479","article_title":"Vitamin K antagonists in children with heart disease: height and VKORC1 genotype are the main determinants of the warfarin dose requirement","article_path":"articles/PMC3384479.md","variant_annotation_id":982047968,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":22130800,"phenotype_category":"Dosage","significance":"no","notes":"In univariate analysis the weekly warfarin dose was most strongly associated with age, weight, height, BSA, sex, and VKORC1 genotype. There was a trend of association between the presence of 1 or 2 CYP2C9 variant alleles and decreased dose requirement but the association was not significant (this is the first reported p-value).; After statistical adjustment for confounding variables the multivariate analysis showed that CYP2C9 genotype (number of variant * alleles, 0,1,2) explained 2% of the observed inter individual variability in warfarin dose (this is the second reported p-value).","sentence":"CYP2C9 *2 + *3 are associated with dose of warfarin in children as compared to CYP2C9 *1.","alleles":"*2 + *3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450985160,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"ritonavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"overall ritonavir CL/F was \u223c1.9-fold faster in subjects with zero versus two CGC haplotype\"\"and was 1.47-fold faster in subjects with zero versus one CGC copy\". In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 8-14 (atazanavir plus ritonavir).","sentence":"Genotype AA is associated with increased clearance of ritonavir in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4667947","article_title":"Methadone pharmacogenetics: CYP2B6 polymorphisms determine plasma concentrations, clearance and metabolism","article_path":"articles/PMC4667947.md","variant_annotation_id":1447944355,"variant_haplotypes":"CYP2B6*1, CYP2B6*4, CYP2B6*6","gene":"CYP2B6","drugs":"methadone","pmid":26389554,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"PK measures were AUC, clearance, peak concentration, exposure.","sentence":"CYP2B6 *1/*4 + *4/*6 is associated with increased clearance of methadone in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*1/*4 + *4/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163542,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this was one of the variants that passed validation in both populations. Direction of effect was not stated.","sentence":"Allele C is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919700,"variant_haplotypes":"rs9332241","gene":"CYP2C9","drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"measured as decreased S-warfarin/R-warfarin ratio and using a genome wide significance threshold of < 3.846 \u00d7 10\u22129. Effect direction from supplementary table S14. Authors note this is \"three prime untranslated region variant of CYP2C9, in LD with CYP2C9*8\".","sentence":"Allele T is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491211,"variant_haplotypes":"rs2112865","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype AA is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512556,"variant_haplotypes":"rs2307424","gene":"NR1I3","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the GG and AG genotypes of this SNP. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448435351,"variant_haplotypes":"rs3743527","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes CT + TT are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862203,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs2239393, rs4818, rs740603, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele A is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1884959","article_title":"The effect of the cytochrome P450 CYP2C8 polymorphism on the disposition of (R)-ibuprofen enantiomer in healthy subjects","article_path":"articles/PMC1884959.md","variant_annotation_id":1450935268,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"ibuprofen","pmid":15606441,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The effect on (R)-ibuprofen pharmacokinetics is associated with the CYP2C8*3 allele. There was a statistically significant gene\u2013dose effect for AUC (P = 0.025), t1/2 (P < 0.025) and drug clearance (P = 0.030). Most individuals that possessed the CYP2C8*3 allele were also carriers of CYP2C9*2. However, there were no significant differences between the carriers of CYP2C8*3 who did or did not possess the CYP2C9*2 allele.","sentence":"CYP2C8 *3 is associated with decreased metabolism of ibuprofen in healthy individuals as compared to CYP2C8 *1/*1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4151246","article_title":"Reduced Renal Clearance of Cefotaxime in Asians with a Low-Frequency Polymorphism of OAT3 (SLC22A8)","article_path":"articles/PMC4151246.md","variant_annotation_id":982017795,"variant_haplotypes":"rs11568482","gene":"SLC22A8","drugs":"cefotaxime","pmid":23649425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype AT is associated with decreased clearance of cefotaxime in healthy individuals as compared to genotype TT.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10951231","article_title":"Individualized atomoxetine response and tolerability in children with ADHD receiving different dosage regimens: the need for CYP2D6 genotyping and therapeutic drug monitoring to dance together","article_path":"articles/PMC10951231.md","variant_annotation_id":1452428883,"variant_haplotypes":"CYP2D6*10","gene":"CYP2D6","drugs":"atomoxetine","pmid":38504095,"phenotype_category":"Efficacy","significance":"yes","notes":"\"As expected, CYP2D6 IMs demonstrated a better clinical response than those EMs due to the higher drug exposure under q.m. dosing regimen (Table \u200b(Table3).3). However, statistically significant differences of concentrations (Fig. 4B, C), cut-off values (Fig. 4E-F), and clinical response were not found under the other two dosing regimens, possibly due to the small sample size.\" The regimens were qm (once morning), bid (twice daily) and qn (once nightly). Study measured CYP2D6*2, CYP2D6*10, and CYP2D6*14 and grouped *10/*10 as intermediate. There was only one PM that was excluded from analysis.","sentence":"CYP2D6 *10/*10 (assigned as intermediate metabolizer phenotype) is associated with increased clinical benefit to atomoxetine in children with Attention Deficit Disorder with Hyperactivity as compared to CYP2D6 normal metabolizer.","alleles":"*10/*10","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180291,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"yes","notes":"It is assumed that the alleles are reported in the paper as being on the positive strand.","sentence":"Allele G is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10499425","article_title":"Variant\u2010based heritability assessment of dexmedetomidine and fentanyl clearance in pediatric patients","article_path":"articles/PMC10499425.md","variant_annotation_id":1452141880,"variant_haplotypes":"rs560765906","gene":"CACNB2","drugs":"dexmedetomidine","pmid":37353859,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Data from Table S2, direction of effect and risk allele not clear. Minor allele and frequency stated. Mapped to dbSNP using genomic location 10:18437025:A:T on hg19/GRCh37. \"GWAS failed to identify any variants meeting the genome-wide statistical significance threshold of 5\u2009\u00d7\u200910\u22128\" This is second highest scoring variant.","sentence":"Allele T is associated with decreased clearance of dexmedetomidine in children with Pain, Postoperative as compared to allele A.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2762405","article_title":"Genetic Polymorphism of Inosine Triphosphate Pyrophosphatase Is a Determinant of Mercaptopurine Metabolism and Toxicity During Treatment for Acute Lymphoblastic Leukemia","article_path":"articles/PMC2762405.md","variant_annotation_id":1448106601,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"mercaptopurine","pmid":18685564,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The A allele was associated with increased methylmercaptopurine nucleotide metabolite concentration in bone marrow leukemia cells. Concentrations were also found to be significantly higher in erythrocytes of patients with an A allele during continuation therapy with mercaptopurine.","sentence":"Allele A is associated with metabolism of mercaptopurine in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2684883","article_title":"CYP4F2 Is a Vitamin K1 Oxidase: An Explanation for Altered Warfarin Dose in Carriers of the V433M Variant","article_path":"articles/PMC2684883.md","variant_annotation_id":1183700228,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":19297519,"phenotype_category":"Dosage","significance":"yes","notes":"TT > CT > CC.","sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6767327","article_title":"Enantiospecific Pharmacogenomics of Fluvastatin","article_path":"articles/PMC6767327.md","variant_annotation_id":1450823501,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"fluvastatin","pmid":30989645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of both 3R,5S-fluvastatin and 3S,5R-fluvastatin and total fluvastatin in the candidate gene study.","sentence":"CYP2C9 *2 is associated with increased concentrations of fluvastatin in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157166,"variant_haplotypes":"rs529520","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9819208","article_title":"Impact of ABCC2 1249G>A and \u221224C>T Polymorphisms on Lacosamide Efficacy and Plasma Concentrations in Uygur Pediatric Patients With Epilepsy in China","article_path":"articles/PMC9819208.md","variant_annotation_id":1451921167,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"lacosamide","pmid":36253887,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with increased concentrations of lacosamide in children with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449156003,"variant_haplotypes":"rs55781567","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109658,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele A is associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631796,"variant_haplotypes":"rs1050152","gene":"SLC22A4","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele T is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823804,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"no association with PK parameters area under the concentration time curve or apparent oral clearance of the drug. [stat_test: univariate and multiple linear regression]","sentence":"Genotypes AA + AG are not associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6151284","article_title":"Potential role of PIN1 genotypes in predicting benefit from oxaliplatin- and irinotecan-based treatment in patients with metastatic colorectal cancer","article_path":"articles/PMC6151284.md","variant_annotation_id":1449752734,"variant_haplotypes":"rs1042522","gene":"TP53","drugs":"oxaliplatin","pmid":29925895,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients receiving FOLFOX (oxaliplatin+fluorouracil+leucovorin) with or without bevacizumab. No significant association with progression-free survival or overall survival was seen.","sentence":"Genotypes CG + GG is associated with decreased response to oxaliplatin in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3797132","article_title":"SLCO1B1 and SLC19A1 Gene Variants and Irinotecan-Induced Rapid Response and Survival: A Prospective Multicenter Pharmacogenetics Study of Metastatic Colorectal Cancer","article_path":"articles/PMC3797132.md","variant_annotation_id":1183697518,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"capecitabine, fluorouracil, irinotecan, leucovorin","pmid":24143213,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were split into two groups based on treatment. One group received irinotecan, fluorouracil, and leucovorin, and the other group received irinotecan and capecitabine. Patients carrying the A allele showed significantly greater rapid response rate, progression free survival, and irinotecan-related time to treatment failure as compared to patients with the GG genotype. In addition, when combined with rs1051266, patients carrying the A allele for this SNP and homozygous for the G allele at rs1051266 had significantly higher rapid response rates than patients with any other combination of genotypes.","sentence":"Genotypes AA + AG are associated with increased response to capecitabine, fluorouracil, irinotecan or leucovorin in people with Colorectal Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4108472","article_title":"Characterization of a Novel BCHE \u201cSilent\u201d Allele: Point Mutation (p.Val204Asp) Causes Loss of Activity and Prolonged Apnea with Suxamethonium","article_path":"articles/PMC4108472.md","variant_annotation_id":1184989031,"variant_haplotypes":"BCHE deficiency","gene":"BCHE","drugs":"succinylcholine","pmid":25054547,"phenotype_category":"Toxicity, Other","significance":"no","notes":"This is a case report of prolonged neuromuscular block after administration of suxamethonium and to the discovery of a novel BCHE deficiency variant, c.695T>A, p.Val204Asp.","sentence":"BCHE deficiency is associated with decreased metabolism of succinylcholine.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8530979","article_title":"Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment\u2010Resistant Epilepsy","article_path":"articles/PMC8530979.md","variant_annotation_id":1451553044,"variant_haplotypes":"rs6729738","gene":null,"drugs":"cannabidiol","pmid":34464454,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients carrying the C allele of the variant were were likely to respond to cannabidiol in patients with treatment-resistant epilepsy (TRE).","sentence":"Genotype CC is associated with increased response to cannabidiol in people with Epilepsy as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC2291379","article_title":"Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants","article_path":"articles/PMC2291379.md","variant_annotation_id":1446903849,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline, opipramol","pmid":18070221,"phenotype_category":"Toxicity","significance":"no","notes":"(*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) Tricyclic antidepressants were grouped together for this analysis (45.9 % of patients were taking Amitriptyline; 8.2% Maprotiline;6.6% Clomipramine; 2.9% Nortriptyline;2.4% Imipramine;0.7% Dosulepin;0.3% Doxepin;0.2% Opipramol. No differences in discontinuation of antidepressants below 45 days was found.","sentence":"CYP2D6 *4/*4 is not associated with discontinuation of amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline and opipramol in people with Depression as compared to CYP2D6 *1/*1.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"discontinuation of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3910846","article_title":"Population Pharmacokinetic and Pharmacogenetic Analysis of Nevirapine in Hypersensitive and Tolerant HIV-Infected Patients from Malawi","article_path":"articles/PMC3910846.md","variant_annotation_id":1296598953,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"nevirapine","pmid":24217698,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Those with the CT genotype had a 33% reduction in clearance of nevirapine as compared to those with the TT genotype. This SNP remained in the multiple SNP analysis model after backwards elimination.","sentence":"Genotype CT is associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5485718","article_title":"Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel","article_path":"articles/PMC5485718.md","variant_annotation_id":1448624896,"variant_haplotypes":"rs2487032","gene":"ABCA1","drugs":"clopidogrel","pmid":27981573,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant was associated increased the concentration of plasma clopidogrel\u2019s active metabolite H4 and increased inhibition of platelet function. However, it was not associated with clinical outcome of clopidogrel.","sentence":"Allele A is associated with increased metabolism of clopidogrel as compared to genotype GG.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11605493","article_title":"Genetic polymorphisms to identify patients with an optimal response to tildrakizumab in psoriasis patients from real\u2010life clinical practice","article_path":"articles/PMC11605493.md","variant_annotation_id":1452554481,"variant_haplotypes":"rs708567","gene":"IL17RC","drugs":"tildrakizumab","pmid":39081053,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Our data also suggest that patients carrying the genotype GG for rs610604 (TNFAIP3), CTGT/\u2212 for rs72167053 (PDE4D) and CT for rs9373839 (ATG5) had a higher probability to not achieve PASI \u22641 after 12\u2009months of tildrakizumab treatment, while those with CT for rs708567 (IL17RC) have a higher chance to have an optimal response to this treatment.\" Table 2, 3 and figure 1 show CC as the genotype associated with improved response.","sentence":"Genotype CC is associated with increased clinical benefit to tildrakizumab in people with Psoriasis as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11241034","article_title":"Exudative Age-Related Macular Degeneration: Association between Treatment Efficacy and Single-Nucleotide Variants in RAD51B, TRIB1, COL8A1, COL10A1, IL-9, IL-10, and VEGFA Genes","article_path":"articles/PMC11241034.md","variant_annotation_id":1452530324,"variant_haplotypes":"rs699947","gene":"VEGFA","drugs":"VEGF/VEGFR (Vascular Endothelial Growth Factor) inhibitors","pmid":38999967,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Also, we found that rs699947 heterozygous and homozygous minor allele carriers had higher CMT after 6 months of anti-VEGF treatment than wild-type genotype carriers (p = 0.032) (Table 4). However, the results did not remain statistically significant after the Bonferroni correction was applied.\" \"In VEGFA SNVs and anti-VEGF treatment response analysis, we found that rs699947 heterozygous and homozygous minor allele carriers had better BCVA before treatment and after 3 and 6 months of treatment than wild-type genotype carriers (p = 0.027; p = 0.003; p = 0.022, respectively). Because of the Bonferroni correction, statistical significance was maintained only in the analysis of the genotype and BCVA results after 3 months of treatment.\"","sentence":"Genotypes AC + CC is associated with increased response to VEGF/VEGFR (Vascular Endothelial Growth Factor) inhibitors in people with Macular Degeneration as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6033076","article_title":"Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics","article_path":"articles/PMC6033076.md","variant_annotation_id":1449576503,"variant_haplotypes":"rs7604115","gene":"UGT1A3","drugs":"montelukast","pmid":28940478,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This UGT1A3 intronic variant is associated with reduced area under the plasma concentration-time curve (AUC) of montelukast (by 18% per copy of the minor allele; P=1.83 \u00d7 10-10). This variant is strongly linked with UGT1A3*2 which is associated with increased UGT1A3 expression.","sentence":"Allele T is associated with decreased concentrations of montelukast in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602097,"variant_haplotypes":"rs2266782","gene":"FMO3","drugs":"nicotine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP is not associated with the pharmacokinetic measures of nicotine. Measures include half-life, Cmax, AUC, non renal clearance, and total clearance.","sentence":"Allele G is not associated with metabolism of nicotine in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245468,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"aspirin, clopidogrel","pmid":21392617,"phenotype_category":null,"significance":"yes","notes":"For 20 microMolar ADP-induced platelet aggregation, the prevalence of High Platelet Reactivity (HPR) was lower in (TT +TC) vs CC, but the template doesn't accommodate this. *17 SNP. For 5 microMolar ADP-induced platelet aggregation, the association was NOT significant ( p = 0.32). [stat_test: chi-square]","sentence":"Allele T is associated with increased response to aspirin and clopidogrel in people with Coronary Artery Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566674,"variant_haplotypes":"rs2018417","gene":"ADH1B","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele A is associated with metabolism of ethanol.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3055694","article_title":"Genome-Wide Pharmacogenomic Study of Neurocognition As an Indicator of Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC3055694.md","variant_annotation_id":981502111,"variant_haplotypes":"rs11240594","gene":"SLC26A9","drugs":"olanzapine","pmid":21107309,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Adjacent SNPs also showed evidence for association. Associated allele is not clear; it is reported as the minor allele being associated with greater response. dbSNP shows A to generally be the minor allele, but this is not the case in all populations. Most of the study participants were of White or Black ancestry (for which A is reported to be the minor allele), but only a study subset was genotyped, and the population distribution is not clear. GWAS p =1.4 x 10 (-7) for 492K SNPs, so Bonferroni-corrected p is 0.068 .","sentence":"Allele A is associated with increased response to olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636679,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes AA + AC are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715532,"variant_haplotypes":"rs4296738","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele A is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449716001,"variant_haplotypes":"rs7583431","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11787782","article_title":"Pharmacodynamic Modeling of Warfarin Dosing Algorithm for Cardiovascular Patients in Indonesia: A Tailored Method to Anticoagulation Therapy","article_path":"articles/PMC11787782.md","variant_annotation_id":1452840820,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":39896937,"phenotype_category":"Dosage","significance":"yes","notes":"\"The Kruskal\u2013Wallis test on genotype showed a p-value of 0.02 (<0.05), suggesting that the CC, CT, and TT genotypes have a significant association with warfarin dosage. \" \"Dosing based on the CYP4F2 rs2108622 genetic polymorphism showed that patients with CC, CT, and TT genotypes required doses of 19 mg, 21 mg, and 33 mg, respectively. \"","sentence":"Allele T is associated with increased dose of warfarin in people with Rheumatic Heart Disease, Atrial Fibrillation, Heart Valve Diseases or Coronary Artery Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatic Heart Disease, Other:Atrial Fibrillation, Other:Heart Valve Diseases, Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2641037","article_title":"Absorption of Montelukast is Transporter Mediated: a Common Variant of OATP2B1 is Associated with Reduced Plasma Concentrations and Poor Response","article_path":"articles/PMC2641037.md","variant_annotation_id":981417773,"variant_haplotypes":"rs2306168","gene":"SLCO2B1","drugs":"montelukast","pmid":19151602,"phenotype_category":"Efficacy","significance":"no","notes":"Also not associated with plasma concentration of montelukast.","sentence":"Allele C is not associated with response to montelukast in people with Asthma as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4693577","article_title":"Beating the odds: efficacy and toxicity of dihydropyrimidine dehydrogenase\u2010driven adaptive dosing of 5\u2010FU in patients with digestive cancer","article_path":"articles/PMC4693577.md","variant_annotation_id":1446903510,"variant_haplotypes":"DPYD poor metabolizer","gene":"DPYD","drugs":"fluorouracil","pmid":26392323,"phenotype_category":"Dosage","significance":"yes","notes":"The study was an attempt to verify a novel assay to phenotype DPYD enzyme activity. DPYD deficiency was based on monitoring endogenous dihydrouracil to uracil (UH2/U) ratio in plasma after standard liquid-liquid extraction using HPLC-UV. Ratio values were used to determine DPD status as a continuous variable and because no mathematical model was available, patients were categorized on UH2/U ratio values into poor (mild, intermediate, profound) or extensive metabolizers. Doses were tailored to a patient's UH2/U ratio determined DPYD phenotype and after dose tailoring the authors found no significant difference between clinical benefit or toxicity between PM and EM groups.","sentence":"DPYD poor metabolizer is associated with decreased dose of fluorouracil in people with Colorectal Neoplasms, Gastrointestinal Neoplasms and Rectal Neoplasms as compared to DPYD normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Gastrointestinal Neoplasms, Disease:Rectal Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5558529","article_title":"CYP2D6 pharmacogenetic and oxycodone pharmacokinetic association study in pediatric surgical patients","article_path":"articles/PMC5558529.md","variant_annotation_id":1448603574,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*17, CYP2D6*41","gene":"CYP2D6","drugs":"oxymorphone","pmid":28244808,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"EMs were genotypes as *1/*1, *1/*9, *2A/*9, *1/*2A, *2A/*2A, IMs were *1/*4, *1/*6, *17/*41, *2A/*4, *2A/*5, PM was *4/*41.","sentence":"CYP2D6 *1/*1 + *1/*9 + *2/*9 + *1/*2 + *2/*2 (assigned as normal metabolizer phenotype) is associated with increased exposure to oxymorphone in children with as compared to CYP2D6 *1/*4 + *1/*6 + *17/*41 + *2/*4 + *2/*5 + *4/*41 (assigned as intermediate metabolizer and poor metabolizer phenotype) .","alleles":"*1/*1 + *1/*9 + *2/*9 + *1/*2 + *2/*2","specialty_population":"Pediatric","metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*4 + *1/*6 + *17/*41 + *2/*4 + *2/*5 + *4/*41","comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} -{"pmcid":"PMC3612775","article_title":"Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study","article_path":"articles/PMC3612775.md","variant_annotation_id":1451355040,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":23100282,"phenotype_category":"Efficacy","significance":"yes","notes":"However, the effect size was very small.","sentence":"Genotypes CC + CT are associated with decreased response to simvastatin as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038027,"variant_haplotypes":"rs675","gene":"APOA4","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AA + AT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105654,"variant_haplotypes":"rs20572","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased exposure to doxorubicin in people with Breast Neoplasms as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184512524,"variant_haplotypes":"rs13120400","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"Individuals with the CC or CT genotype had a higher cumulative incidence of major molecular response (CI-MMR, estimated using Sokal score) after 18 months of treatment with a 400mg/day dose of imatinib, as compared to those with the TT genotype. No significant results were seen when considering patients taking a 600mg/day dose (n=107; p=0.74). The authors note that they used the Benjamini and Hochberg method for multiple testing issues.","sentence":"Genotypes CC + CT is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928144,"variant_haplotypes":"rs4818","gene":"COMT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The G allele was initially significantly more frequent in patients designated as responders to risperidone (i.e. >50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele G is associated with increased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121680,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele G is not associated with response to oxycodone as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11608742","article_title":"Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes","article_path":"articles/PMC11608742.md","variant_annotation_id":1452724989,"variant_haplotypes":"rs34399035","gene":"SLC47A2","drugs":"metformin","pmid":39612420,"phenotype_category":"Efficacy","significance":"no","notes":"\"Other SNPs (rs4621031, rs34399035, rs1800058, and rs11212617) had no significant impact on metformin response. \"","sentence":"Allele T is not associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666966,"variant_haplotypes":"rs2082940","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757055,"variant_haplotypes":"rs7542281","gene":"F5","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele C is not associated with dose of warfarin in people with heart valve replacement as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755934,"variant_haplotypes":"rs195862","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele C is not associated with response to platinum in people with Lung Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6033076","article_title":"Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics","article_path":"articles/PMC6033076.md","variant_annotation_id":1449576525,"variant_haplotypes":"rs704212","gene":"ABCC9","drugs":"montelukast","pmid":28940478,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is associated with reduced area under the plasma concentration-time curve (AUC) of montelukast (13.7% reduction per copy of each minor allele, P=2.19 \u00d7 10-4).","sentence":"Allele T is associated with decreased concentrations of montelukast in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935708,"variant_haplotypes":"rs149158426","gene":"CYP2C9","drugs":"tolbutamide","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In vitro analysis showed that intrinsic clearance of tolbutamide by CYP2C9 protein containing the C allele was 98.1% of that of the WT protein. Variant referred to as 801C>T in the paper.","sentence":"Allele T is not associated with clearance of tolbutamide as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757018,"variant_haplotypes":"rs3093158","gene":"CYP4F2","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele T is not associated with dose of warfarin in people with heart valve replacement as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4833149","article_title":"The pharmacokinetic and pharmacodynamic interaction of clopidogrel and cilostazol in relation to CYP2C19 and CYP3A5 genotypes","article_path":"articles/PMC4833149.md","variant_annotation_id":1446907247,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"cilostazol","pmid":26426352,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors observed significant differences in AUC (ng*hr/ml) of cilostazol and cilostazol metabolites (3,4-dehydro cilostozal and 4\" turns-hydroxyl cilostazol) when comparing between CYP2C19 metabolizer groups [extensive (CYP2C19 *1/*1), intermediate (CYP2C19 *1/*2, *1/*3), and poor (CYP2C19 *2/*2, *2/*3, *3/*3). Significant differences were not generally observed in AUC of cilostazole, or cilostozol metabolites when comparing within metabolizer groups, or between metabolizer groups when clopidogrel was co-adminsitered with cilostazol.","sentence":"CYP2C19 *2 + *3 are associated with increased concentrations of cilostazol in healthy individuals as compared to CYP2C19 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2857717","article_title":"The efficacies of clozapine and haloperidol in refractory schizophrenia are related to DTNBP1 variation","article_path":"articles/PMC2857717.md","variant_annotation_id":699642395,"variant_haplotypes":"rs742105","gene":"DTNBP1","drugs":"clozapine","pmid":19369910,"phenotype_category":"Efficacy","significance":"yes","notes":"Significance for genotype shown for african americans, significance not shown for the genotype for european american but was significant for diplotype with rs909706.","sentence":"Genotypes CT + TT are associated with increased response to clozapine in people with Schizophrenia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3726442","article_title":"Relationship between Genotypes Sult1a2 and Cyp2d6 and Tamoxifen Metabolism in Breast Cancer Patients","article_path":"articles/PMC3726442.md","variant_annotation_id":1444934955,"variant_haplotypes":"CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*10, CYP2D6*17, CYP2D6*41","gene":"CYP2D6","drugs":"endoxifen","pmid":23922954,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note: article provides diplotypes as wt/wt or wt/*3 etc. CYP2D6 wt includes *1, *2, *35 but the individual diplotypes concerning wt alleles are not included so compared to diplotypes are examples with *1 could be *2 or *35. Pre and postmenopausal woman with estrogen receptor-positive breast cancer undergoing tam treatment after surgery and chemotherapy/radiation. Patients were excluded if tamoxifen therapy was started with either chemotherapy or radiation, SSRI treatment was allowed. Roche-AmpliChip\u00ae CYP450 Test was used. Genotypes were classified into the three groups: wt/wt, patients with 2 or more copies of any functional allele; wt/v, patients carrying one functional allele and one variant -intermediate or null- allele; v/v, patients featuring intermediate or null alleles. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood] [HWE: yes]","sentence":"CYP2D6 *3/*9 + *4/*4 + *4/*5 + *4/*10 + *4/*41 + *5/*17 + *5/*41 + *41/*41 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*3 + *1/*4 + *1/*5 + *1/*6 + *1/*9 + *1/*17 + *1/*41.","alleles":"*3/*9 + *4/*4 + *4/*5 + *4/*10 + *4/*41 + *5/*17 + *5/*41 + *41/*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3 + *1/*4 + *1/*5 + *1/*6 + *1/*9 + *1/*17 + *1/*41","comparison_metabolizer_types":null} -{"pmcid":"PMC5412267","article_title":"OPRM1 c.118A>G Polymorphism and Duration of Morphine Treatment Associated with Morphine Doses and Quality-of-Life in Palliative Cancer Pain Settings","article_path":"articles/PMC5412267.md","variant_annotation_id":1448612967,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"morphine","pmid":28346387,"phenotype_category":"Dosage","significance":"no","notes":"The setting was for palliative care of cancer patients.","sentence":"Allele G is not associated with dose of morphine in people with Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11481807","article_title":"Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder","article_path":"articles/PMC11481807.md","variant_annotation_id":1452647600,"variant_haplotypes":"rs9316233","gene":"HTR2A","drugs":"escitalopram","pmid":39407134,"phenotype_category":"Efficacy","significance":"no","notes":"\"No significant relationship between HTR2A rs9316233 and BDNF rs962369 variants with response to escitalopram treatment was observed.\" Table 3 lists G as minor allele and C as common allele.","sentence":"Allele G is not associated with decreased response to escitalopram in people with Major Depressive Disorder as compared to allele C (assigned as normal metabolizer phenotype) .","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821786,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"efavirenz","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"An association between ABCB1 3435C>T and EFV concentrations was suggested (p=0.0827) without statistical significance\".","sentence":"Genotypes AA + AG are not associated with concentrations of efavirenz in children with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4110085","article_title":"The influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in children with non-Hodgkin malignant lymphoma","article_path":"articles/PMC4110085.md","variant_annotation_id":1451511420,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":25177243,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AG are associated with increased concentrations of methotrexate in children with Lymphoma, Non-Hodgkin as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4154311","article_title":"A randomized placebo-controlled trial of ataluren for the treatment of nonsense mutation cystic fibrosis","article_path":"articles/PMC4154311.md","variant_annotation_id":1447952420,"variant_haplotypes":"rs74767530","gene":"CFTR","drugs":"ataluren","pmid":24836205,"phenotype_category":"Efficacy","significance":"no","notes":"Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.","sentence":"Allele T is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3890033","article_title":"Association of single nucleotide polymorphisms in MTHFR and ABCG2 with the different efficacy of first-line chemotherapy in metastatic colorectal cancer","article_path":"articles/PMC3890033.md","variant_annotation_id":1184747595,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"antineoplastic agents","pmid":24338217,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in response rate or progression-free survival time was seen between the genotypes. Patients were either receiving FOLFOX/XELOX or FOLFIRI regimens (respectively: fluorouracil, leucovorin, oxaliplatin; capecitabine, oxaliplatin; fluorouracil, leucovorin, irinotecan). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is not associated with response to antineoplastic agents in people with Colorectal Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6714829","article_title":"Associations of the SLCO1B1 Polymorphisms With Hepatic Function, Baseline Lipid Levels, and Lipid-lowering Response to Simvastatin in Patients With Hyperlipidemia","article_path":"articles/PMC6714829.md","variant_annotation_id":1451226960,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":30336686,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients carrying 521TT genotype had greater TC and LDL-C reduction in response to simvastatin after 4 weeks of treatment.","sentence":"Genotype TT is associated with increased response to simvastatin in people with Hypercholesterolemia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC8890732","article_title":"Effects of cytochrome P450 2B6 and constitutive androstane receptor genetic variation on Efavirenz plasma concentrations among HIV patients in Kenya","article_path":"articles/PMC8890732.md","variant_annotation_id":1451707340,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":35235559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Described as 516G>T.","sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4613195","article_title":"Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation","article_path":"articles/PMC4613195.md","variant_annotation_id":1448100012,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"mycophenolic acid","pmid":26307985,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Concentrations measured as trough blood drug concentrations. Differences in concentrations were seen in the later time points after transplantation -- 90 and 180 days after transplant.","sentence":"Genotype AG is associated with increased concentrations of mycophenolic acid in people with lung transplantation as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9373641","article_title":"The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study","article_path":"articles/PMC9373641.md","variant_annotation_id":1451445180,"variant_haplotypes":"rs553668","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":33915198,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of dexmedetomidine in men as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2950972","article_title":"Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers","article_path":"articles/PMC2950972.md","variant_annotation_id":1449161507,"variant_haplotypes":"rs648893","gene":"OPRM1","drugs":"nalmefene","pmid":18537939,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to nalmefene in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC1974827","article_title":"Influence of the CYP3A5 and MDR1 genetic polymorphisms on the pharmacokinetics of tacrolimus in healthy Korean subjects","article_path":"articles/PMC1974827.md","variant_annotation_id":1184515279,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":17391324,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy subjects with the CYP3A5*1/*1 (TT) or *1/*3 (CT) genotype had significantly lower AUC and Cmax values when compared with subjects with the CYP3A5*3/*3 (CC) genotype.","sentence":"Genotypes CT + TT is associated with increased clearance of tacrolimus in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376598,"variant_haplotypes":"rs3792452","gene":"GRM7","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele T is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359283,"variant_haplotypes":"rs12666409","gene":"DDC","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of heroin in people with Heroin Dependence as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477269,"variant_haplotypes":"rs1110470","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA genotype have a reduced frequency of asthma exacerbations compared to those with the AG + GG genotypes.","sentence":"Genotype AA is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5370513","article_title":"Predictive Value of UGT1A1*28 Polymorphism In Irinotecan-based Chemotherapy","article_path":"articles/PMC5370513.md","variant_annotation_id":1448617859,"variant_haplotypes":"rs4148323","gene":"UGT1A1","drugs":"irinotecan","pmid":28367249,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis of studies of Asian subjects with lung cancer (small-cell and non-small cell) from China, Korea, and Japan treated with irinotecan-based chemotherapy.","sentence":"Allele A is not associated with response to irinotecan in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371766,"variant_haplotypes":"CYP3A5 intermediate metabolizers","gene":"CYP3A5","drugs":"maraviroc","pmid":30192390,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no significant difference in average maraviroc plasma concentrations between CYP3A5 intermediate and extensive metabolizers.","sentence":"CYP3A5 intermediate metabolizer is not associated with concentrations of maraviroc in people with HIV Infections as compared to CYP3A5 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC11435314","article_title":"An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers","article_path":"articles/PMC11435314.md","variant_annotation_id":1452616380,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"fesoterodine","pmid":39338398,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Lastly, Cl/F was significantly higher in the CYP2D6 UMs compared to the NMs and IMs/PMs (puv = 0.008 and puv < 0.001, respectively; \u03b2 = \u22120.131, R2 =0.409, pmv = 0.001) and lower in the CYP2D6 IMs/PMs compared to the NMs (puv = 0.005) (Table 3).\" The 21 SNPs for CYP2D6 measured are listed in table 5 and methods states that \"deletion (*5), duplication, and the presence of hybrid structures were analyzed\".","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer is associated with decreased clearance of fesoterodine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491537,"variant_haplotypes":"rs12076902","gene":"CAPZA1","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele A is not associated with response to atenolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11317398","article_title":"Genetic variability in the glucocorticoid pathway and treatment outcomes in hospitalized patients with COVID-19: a pilot study","article_path":"articles/PMC11317398.md","variant_annotation_id":1452563181,"variant_haplotypes":"rs33388","gene":"NR3C1","drugs":"dexamethasone","pmid":39135792,"phenotype_category":"Efficacy","significance":"yes","notes":"\"the median duration of hospitalization was longer in homozygotes for NR3C1 rs33388 reference allele (12 days) when compared to carriers of one or two polymorphic alleles (both 9 days) (Pdom adj = 0.006).\" Caution this is an A/T snp in a gene on the minus strand and it is unclear about which allele is major allele or risk allele.","sentence":"Genotype AA is associated with increased time to response to dexamethasone in people with COVID-19 as compared to genotypes AT + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:COVID-19","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560375,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701274,"variant_haplotypes":"rs4917639","gene":"CYP2C9","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP explained 12% (P = 4.61 x 10(-30)) of the variation in warfarin dose. The direction of the allele:dose relationship is not given.","sentence":"Allele A is associated with dose of warfarin.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340144,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 6.9mg/week more warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6426691","article_title":"Genome-wide association analysis of common genetic variants of resistant hypertension","article_path":"articles/PMC6426691.md","variant_annotation_id":1451099900,"variant_haplotypes":"rs11749255","gene":null,"drugs":"Antihypertensives","pmid":30237584,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was associated with increased odds of a patient developing resistant-hypertension. Participants were classified as having resistant hypertension if their SBP was \u2265140 or DBP \u2265 90 using three or more medications, or if they were using four or greater antihypertensive medications regardless of BP. This SNP was suggestive in the INVEST and SPS3 cohorts but reached genome-wide significance when the two cohorts were combined. Additionally, this association could not be validated in an eMERGE dataset.","sentence":"Allele A is associated with decreased response to Antihypertensives in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161687,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in methadone dose between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP2C19 *1/*2 + *2/*2 are not associated with dose of methadone in people with Opioid-Related Disorders as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5421731","article_title":"Candidate\u2010Gene Study of Functional Polymorphisms in SLCO1B1 and CYP3A4/5 and the Cholesterol\u2010Lowering Response to Simvastatin","article_path":"articles/PMC5421731.md","variant_annotation_id":1448624746,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"simvastatin","pmid":28482130,"phenotype_category":"Efficacy","significance":"no","notes":"609 self-reported white and 335 self-reported African American men and women with baseline total serum cholesterol level between 160 and 400 mg/dL received 40 mg simvastatin daily for 6 weeks. Clinic visits occurred at 2-week intervals during the 6-week study.","sentence":"CYP3A4 *22 is not associated with response to simvastatin as compared to CYP3A4 *1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11023817","article_title":"Pharmacogenetic Influence on Stereoselective Steady-State Disposition of Bupropion","article_path":"articles/PMC11023817.md","variant_annotation_id":1452415140,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"bupropion","pmid":38467432,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"516T carriers generally had; greater bupropion and lesser hydroxybupropion plasma exposure, compared with non-carriers.\"","sentence":"Allele T is associated with increased exposure to bupropion in people with Depressive Disorder, Major as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2791975","article_title":"A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans","article_path":"articles/PMC2791975.md","variant_annotation_id":1452582048,"variant_haplotypes":"rs3842","gene":"ABCB1","drugs":"efavirenz","pmid":19916993,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Efavirenz relative bioavailability was 26% higher in subjects homozygous for ABCB1 (rs3842).\"","sentence":"Genotype CC is associated with increased exposure to efavirenz in healthy individuals as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3092713","article_title":"Integration of population pharmacokinetics and pharmacogenetics: an aid to optimal nevirapine dose selection in HIV-infected individuals","article_path":"articles/PMC3092713.md","variant_annotation_id":827861835,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":21441248,"phenotype_category":"Toxicity, Metabolism/PK","significance":"not stated","notes":"\" The impact of 516G\u200a>\u200aT was tested including heterozygous and homozygous subjects, showing that both genotypes influenced CL/F to a significant extent (\u0394OFV\u200a=\u200a\u221227.8). Particularly significant was the effect of the 516TT genotype, which decreased CL/F by 37%. Importantly, there was a gene\u2013dose effect with 516GT decreasing CL/F by 15% compared with the 516GG genotype. \"","sentence":"Genotypes GT + TT is associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6969041","article_title":"Impact of CYP2C19 genotype on sertraline exposure in 1200 Scandinavian patients","article_path":"articles/PMC6969041.md","variant_annotation_id":1450933348,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"sertraline","pmid":31649299,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Among CYP2C19 UMs, the mean estimated serum concentration of both sertraline and N-desmethylsertraline was 10% lower compared to NMs (p = 0.012 and p = 0.016, respectively). No significant difference in metabolic ratio between UMs and NMs was observed (p = 0.517). The OR for having =1 TDM measurements below the target concentration range of 30 nM in CYP2C19 UMs was 1.31 (p = 0.098, CI: 0.95\u20131.80) compared to NMs.","sentence":"CYP2C19 *17/*17 (assigned as ultrarapid metabolizer phenotype) is associated with increased metabolism of sertraline as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*17/*17","specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4220988","article_title":"Impact of the Superoxide Dismutase 2 Val16Ala Polymorphism on the Relationship between Valproic Acid Exposure and Elevation of \u03b3-Glutamyltransferase in Patients with Epilepsy: A Population Pharmacokinetic-Pharmacodynamic Analysis","article_path":"articles/PMC4220988.md","variant_annotation_id":1444608478,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"valproic acid","pmid":25372290,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Clearance here refers to apparent oral clearance as assayed by serum concentration of valproic acid (VPA) (micrograms/ml). The authors used NONEM to assess serum concentration of VPA.","sentence":"CYP2C9 *3 is not associated with clearance of valproic acid in people with Epilepsy as compared to CYP2C9 *1.","alleles":"*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5377478","article_title":"A prospective study to assess the association between genotype, phenotype and Prakriti in individuals on phenytoin monotherapy","article_path":"articles/PMC5377478.md","variant_annotation_id":1448612933,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"phenytoin","pmid":28302415,"phenotype_category":"Toxicity","significance":"no","notes":"Concentrations were assessed in relation to toxic concentrations of phenytoin compared to *1/*1.","sentence":"CYP2C19 *1/*2 is not associated with increased concentrations of phenytoin in people with Epilepsy as compared to CYP2C19 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3698861","article_title":"Association of nicotine metabolite ratio and CYP2A6 genotype with smoking cessation treatment in African-American light smokers","article_path":"articles/PMC3698861.md","variant_annotation_id":1451665300,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*24, CYP2A6*25, CYP2A6*26, CYP2A6*27, CYP2A6*28, CYP2A6*35, CYP2A6*46","gene":"CYP2A6","drugs":"nicotine","pmid":19279561,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar.","sentence":"CYP2A6 *1/*2 + *1/*4 + *1/*9 + *1/*12 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35 (assigned as intermediate and low activity phenotype) are associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*1 +*1/*46 + *46/*46 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*4 + *1/*9 + *1/*12 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35","specialty_population":null,"metabolizer_types":"low activity and intermediate activity","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 +*1/*46 + *46/*46","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC10675244","article_title":"A Physiologically Based Pharmacokinetic Approach to Recommend an Individual Dose of Tacrolimus in Adult Heart Transplant Recipients","article_path":"articles/PMC10675244.md","variant_annotation_id":1452309660,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":38004558,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"the apparent clearance was 12.2 \u00b1 6.0 L/h for CYP3A5*3*3, while it was 27.3 \u00b1 11.5 L/h for individuals with at least one CYP3A5*1 allele (p < 0.001). The results are shown in Figure 1.\"","sentence":"CYP3A5 *3/*3 is associated with decreased clearance of tacrolimus in people with heart transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC8438567","article_title":"Effect of Pharmacogenetics Variations on Praziquantel Plasma Concentrations and Schistosomiasis Treatment Outcomes Among Infected School-Aged Children in Tanzania","article_path":"articles/PMC8438567.md","variant_annotation_id":1451499146,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"praziquantel","pmid":34531744,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C19 *1/*2 + *1/*3 is associated with increased exposure to praziquantel in children with Schistosomiasis as compared to CYP2C19 *1/*1 + *1/*17.","alleles":"*1/*2 + *1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Schistosomiasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":null} -{"pmcid":"PMC5800559","article_title":"Pharmacogenomics-guided policy in opioid use disorder (OUD) management: An ethnically-diverse case-based approach","article_path":"articles/PMC5800559.md","variant_annotation_id":1451440360,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"buprenorphine","pmid":29450233,"phenotype_category":"Dosage","significance":"no","notes":"Case study of a patient receiving buprenorphine/naloxone as opioid agonist treatment. Patient experienced withdrawal symptoms when dose was reduced from 28mg/day to 24mg/day, indicating a potential ultrarapid metabolizer phenotype. Authors state \"The patient was determined to exhibit the CYP3A4*1/*1B genotype\"","sentence":"Genotype CT is associated with increased dose of buprenorphine in people with Opioid-Related Disorders.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11401437","article_title":"CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids","article_path":"articles/PMC11401437.md","variant_annotation_id":1452590200,"variant_haplotypes":"rs186089140","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":39272186,"phenotype_category":"PD","significance":"no","notes":"\"Functional evaluation of modulator treatment on rectal organoids derived from subjects 1 and 2 carrying the S737F/W1282X and S737F/Dele22-24 genotype\"\"Here, we analyzed two of these subjects for which intestinal organoids were available, and we demonstrated that a trend to respond to ETI treatment was present but appeared prominent only in one of the subjects presenting the lowest residual function, while it was reported as significant in nasal cells.\"\" ETI induced a modest increase in CFTR function, which resulted in more evidence for the case carrying the S737F/Dele22-24 genotype.\"","sentence":"Allele T is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8822703","article_title":"Relationship of cytochrome P450 gene polymorphisms with blood concentrations of hydroxychloroquine and its metabolites and adverse drug reactions","article_path":"articles/PMC8822703.md","variant_annotation_id":1451697420,"variant_haplotypes":"rs3735451","gene":"CYP3A4","drugs":"hydroxychloroquine","pmid":35135554,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Authors state \"We found that CYP3A4 (rs3735451) was significantly correlated with blood concentration of HCQ and its metabolites by adjusting for the time of administration, and the mean blood concentrations of HCQ, DHCQ, and DCQ in patients with CC, CT, and TT genotypes is higher than those of other genotypes, with the blood concentration of HCQ and its main metabolite DHCQ being the lowest for the CC genotype.\"","sentence":"Genotype CC is associated with decreased concentrations of hydroxychloroquine in people with Arthritis, Rheumatoid or Lupus Erythematosus, Systemic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis, Other:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864125,"variant_haplotypes":"rs2960306","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"no","notes":"Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotype TT is not associated with decreased response to metoprolol in women with hypertensive nephrosclerosis as compared to genotype GG.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483686,"variant_haplotypes":"rs11045879","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6409308","article_title":"Genetic Association of Olanzapine Treatment Response in Han Chinese Schizophrenia Patients","article_path":"articles/PMC6409308.md","variant_annotation_id":1451701983,"variant_haplotypes":"rs324026","gene":"DRD3","drugs":"olanzapine","pmid":30886581,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors state \"individuals with C alleles of rs324026 generally experience significantly better efficacy of OLA treatment.\"","sentence":"Allele C is associated with increased clinical benefit to olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3872414","article_title":"Polymorphisms of MTHFR Associated with Higher Relapse/Death Ratio and Delayed Weekly MTX Administration in Pediatric Lymphoid Malignancies","article_path":"articles/PMC3872414.md","variant_annotation_id":1451506467,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"methotrexate","pmid":24386571,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had significantly better relapse-free survival. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is associated with decreased response to methotrexate in children with Lymphoma, Non-Hodgkin or Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes GG + GT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma, Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3214266","article_title":"The interactions of age, genetics, and disease severity on tacrolimus dosing requirements after pediatric kidney and liver transplantation","article_path":"articles/PMC3214266.md","variant_annotation_id":1184998180,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21698374,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"In pediatric liver transplantation recipients, CYP3A5 genotype was not associated with tacrolimus dose, meadian tacrolimus concentration and lower C/D ratios.","sentence":"Genotypes CT + TT are not associated with metabolism of tacrolimus in children with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5440888","article_title":"Lumacaftor/Ivacaftor in Patients Aged 6\u201311 Years with Cystic Fibrosis and Homozygous for F508del-CFTR","article_path":"articles/PMC5440888.md","variant_annotation_id":1449192645,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, lumacaftor","pmid":27805836,"phenotype_category":"Efficacy","significance":"no","notes":"F508del allele. No significant change in ppFEV1 observed following 24 weeks of lumacaftor treatment.","sentence":"Genotype del/del is not associated with response to ivacaftor and lumacaftor in children with Cystic Fibrosis.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5711571","article_title":"Interaction between the \u03bc-opioid receptor gene and the number of heavy drinking peers on alcohol use","article_path":"articles/PMC5711571.md","variant_annotation_id":1450928634,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":28992386,"phenotype_category":"Other","significance":"no","notes":"No significant main effect of this variant or interaction effect between this variant and social drinking condition on alcohol consumption in a controlled setting or blood alcohol content.","sentence":"Allele G is not associated with dose of ethanol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3369131","article_title":"A gene variant near ATM is significantly associated with metformin treatment response in type 2 diabetes: a replication and meta-analysis of five cohorts","article_path":"articles/PMC3369131.md","variant_annotation_id":1452581960,"variant_haplotypes":"rs11212617","gene":"C11orf65","drugs":"metformin","pmid":22453232,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6501809","article_title":"Pharmacokinetic-Pharmacodynamic interaction associated with venlafaxine-XR remission in patients with major depressive disorder with history of citalopram / escitalopram treatment failure","article_path":"articles/PMC6501809.md","variant_annotation_id":1451888480,"variant_haplotypes":"CYP2D6 poor metabolizer phenotype","gene":"CYP2D6","drugs":"duloxetine","pmid":30578947,"phenotype_category":"Efficacy","significance":"no","notes":"In patients with no remission to citalopram or escitalopram treatment, duloxetine remission rates were not significantly different between CYP2D6 UM, IM/NM or PM.","sentence":"CYP2D6 poor metabolizer is not associated with response to duloxetine as compared to CYP2D6 normal metabolizer and intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715564,"variant_haplotypes":"rs10028494","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele A is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703597,"variant_haplotypes":"rs3213619","gene":"ABCB1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving complete molecular response (CMR) within 12 months. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%.","sentence":"Genotype AA is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188622,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The T allele is associated with longer half-life of methotrexate.","sentence":"Allele T is associated with decreased metabolism of methotrexate in children with Osteosarcoma as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8767566","article_title":"Effect of HIV, antiretrovirals, and genetics on methadone pharmacokinetics: Results from the methadone antiretroviral pharmacokinetics study","article_path":"articles/PMC8767566.md","variant_annotation_id":1451516640,"variant_haplotypes":"rs3003596","gene":"NR1I3","drugs":"(R)-methadone","pmid":34482033,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Being HIV+, taking ART, presence of the rare ABCB1 rs2032582 T allele, and combined presence of the NR1I3 rs2307424 GG and rs3003596 GG genotypes if taking EFV each significantly increased R-methadone CL/F.\"","sentence":"Genotype GG is associated with increased clearance of (R)-methadone in people with HIV Infections.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162841,"variant_haplotypes":"rs3814055","gene":"NR1I2","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388254,"variant_haplotypes":"rs4148943","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with data in pgkb, actual base not listed in paper)","sentence":"Allele C is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438784,"variant_haplotypes":"rs11995962","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5.0E-9.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11508189","article_title":"CYP3A4*1B but Not CYP3A5*3 as Determinant of Long-Term Tacrolimus Dose Requirements in Spanish Solid Organ Transplant Patients","article_path":"articles/PMC11508189.md","variant_annotation_id":1452654200,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":39457109,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Transplants included 14 hepatic, 9 renal, 2 cardiac and one pulmonary (from table 1). Alleles complemented. CYP3A5*3/*3 CYP3A4*1/*1 had higher dose adjusted blood concentrations compared to CYP3A5*3/*1 CYP3A4*1/*1B. Concentrations were only measured in 9 patients. CYP3A5*3/*3 is rs776746 CC, there were no *1/*1","sentence":"Genotype CC is associated with increased concentrations of tacrolimus in people with Transplantation as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC8505487","article_title":"Association of TLR 9 gene polymorphisms with remission in patients with rheumatoid arthritis receiving TNF-\u03b1 inhibitors and development of machine learning models","article_path":"articles/PMC8505487.md","variant_annotation_id":1451552300,"variant_haplotypes":"rs352139","gene":"TLR9","drugs":"adalimumab, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":34635730,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors report variant as significantly associated with remission, and define remission as \"DAS-28 score of less than 2.6 after 6 months of TNF-\u03b1 inhibitor therapy.\"","sentence":"Genotypes CT + TT is associated with increased response to adalimumab, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10827494","article_title":"An increase in urinary primaquine and a reduction in urinary primaquine-5,6-orthoquinone in the Thai population with CYP2D6 reduced enzyme function","article_path":"articles/PMC10827494.md","variant_annotation_id":1452370684,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"primaquine 5,6-orthoquinone","pmid":38293439,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For urine data... The normalized total CAE of POQ was significantly lower in CYP2D6 IM than in CYP2D6 NM (115 (46\u2013297) vs. 318 (92\u2013498) \u03bcg/mg/kg, respectively, p = 0.047, Table 3, Fig. 2, Fig. 3B). \" POQ = primaquine 5,6-orthoquinone","sentence":"CYP2D6 intermediate metabolizer is associated with decreased concentrations of primaquine 5,6-orthoquinone in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002465,"variant_haplotypes":"rs1047840","gene":"EXO1","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"not stated","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Five SNPs (rs2289310 G>T; rs1047840 G>A; rs17431184 T>C; rs17160359 G>T; rs2236722 A>G) were identified as distinguishing the \"non-responder\" phenotype from the \"responder\" phenotype when using a logistic regression multivariate model. The AUC for the receiver operating characteristic curve of the 5 SNPs is 0.875. This logistic-based multivariate model is said to be able to identify 39.1% of non-responders.","sentence":"Allele A is associated with increased response to capecitabine or fluorouracil in people with Neoplasm Metastasis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5007158","article_title":"Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin","article_path":"articles/PMC5007158.md","variant_annotation_id":1448256681,"variant_haplotypes":"rs8192675","gene":"SLC2A2","drugs":"metformin","pmid":27500523,"phenotype_category":"Efficacy","significance":"yes","notes":"The C allele of rs8192675 was associated with a 0.17% (P = 6.6 \u00d7 10-14) greater metformin-induced reduction in hemoglobin A1c (HbA1c) in 10,577 participants of European ancestry.","sentence":"Allele C is associated with increased response to metformin in people with Diabetes Mellitus as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157271,"variant_haplotypes":"rs2234918","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele T is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8917764","article_title":"A single low dose of primaquine is safe and sufficient to reduce transmission of Plasmodium falciparum gametocytes regardless of cytochrome P450 2D6 enzyme activity in Bagamoyo district, Tanzania","article_path":"articles/PMC8917764.md","variant_annotation_id":1451727662,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"primaquine","pmid":35279143,"phenotype_category":"Efficacy","significance":"no","notes":"CYP2D6 was assessed using \"mass array VeriDose CYP2D6 CNV Panel\". Authors group PM and IM as \"reduced CYP2D6 activity\" and was 33/157 individuals, 3 individuals were increased activity. \"none of the patients had parasitaemia on day 3\"","sentence":"CYP2D6 poor metabolizers and intermediate metabolizers is not associated with decreased clinical benefit to primaquine in children with Malaria as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Malaria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166003,"variant_haplotypes":"rs2071421","gene":"ARSA","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8530979","article_title":"Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment\u2010Resistant Epilepsy","article_path":"articles/PMC8530979.md","variant_annotation_id":1451553420,"variant_haplotypes":"rs3749442","gene":"ABCC5","drugs":"cannabidiol","pmid":34464454,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AG are associated with decreased response to cannabidiol in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3931261","article_title":"Novel CYP2A6 variants identified in African Americans are associated with slow nicotine metabolism in vitro and in vivo","article_path":"articles/PMC3931261.md","variant_annotation_id":1183701942,"variant_haplotypes":"rs376817657","gene":"CYP2A6","drugs":"nicotine","pmid":24305170,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association with lower activity of the novel variant groups [CYP2A6*39 (V68M), CYP2A6*40 (I149M), CYP2A6*41 (R265Q), CYP2A6*42 (I268T), CYP2A6*43 (T303I), CYP2A6*44 (E390K; rs376817657), CYP2A6*44 (L462P)] was; tested using a one-way analysis of variance with Bonferroni tests used for post-hoc analysis, P<0.01. A comparison between CYP2A6*1/*1 and; the combined group was tested using an unpaired t-test, ***P<0.001","sentence":"Genotypes CT + TT is associated with decreased metabolism of nicotine as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003637,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased response to lumefantrine in women with Malaria and Pregnancy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928806,"variant_haplotypes":"rs6474413","gene":"CHRNB3","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of genotype on likelihood of being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with response to bupropion, nicotine or varenicline in people with Tobacco Use Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104844,"variant_haplotypes":"rs6691840","gene":"GRIK3","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4996314","article_title":"Previously reported PDE3A\u2013SLCO1C1 genetic variant does not correlate with anti-TNF response in a large UK rheumatoid arthritis cohort","article_path":"articles/PMC4996314.md","variant_annotation_id":1448111986,"variant_haplotypes":"rs3794271","gene":"SLCO1C1","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":27180831,"phenotype_category":"Efficacy","significance":"no","notes":"as measured by either EULAR or change in DAS28","sentence":"Allele G is not associated with response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4503165","article_title":"CGRP 4218T/C polymorphism correlated with postoperative analgesic effect of fentanyl","article_path":"articles/PMC4503165.md","variant_annotation_id":1452273540,"variant_haplotypes":"rs145837941","gene":"CALCA","drugs":"fentanyl","pmid":26191294,"phenotype_category":"Dosage","significance":"yes","notes":"\"At the 12th hour and the 24th hour after the surgery, the fentanyl consumption for PCA of the C/C group was significantly higher than the T/T group (P=0.013, 0.004). At the 24th hour after the surgery, the fentanyl consumption for PCA of the C/C group was significantly higher than the T/C group (P=0.021) \" Alleles complemented. Mapped CGRP 4218T/C to rs145837941 in the CALCA gene using PMID:23237777.","sentence":"Genotype GG is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC2592852","article_title":"Effect of Concomitant Artesunate Administration and Cytochrome P4502C8 Polymorphisms on the Pharmacokinetics of Amodiaquine in Ghanaian Children with Uncomplicated Malaria","article_path":"articles/PMC2592852.md","variant_annotation_id":827815301,"variant_haplotypes":"rs11572103","gene":"CYP2C8","drugs":"amodiaquine, artesunate","pmid":18779360,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"Plasma DEAQ concentrations were slightly but insignificantly lower in subjects with mutant CYP2C8 genotypes than in those with wild-type alleles or heterozygotes. No difference was seen in adverse events or efficacy. NOTE: this gene is on the minus strand, *2 represents T on coding strand and shown here as A on plus strand.","sentence":"Genotype AA is not associated with metabolism of amodiaquine and artesunate in children with Malaria as compared to genotypes AT + TT.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Malaria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3180021","article_title":"IL28B polymorphisms associated with therapy response in Chilean chronic hepatitis C patients","article_path":"articles/PMC3180021.md","variant_annotation_id":1444705811,"variant_haplotypes":"rs12980275","gene":"IFNL3","drugs":"peginterferon alfa-2a, ribavirin","pmid":21987611,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype AA is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104900,"variant_haplotypes":"rs734784","gene":"KCNS1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003506,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine were not significantly different and no more likely to have median concentrations of lumefantrine >600 ng/ml between genotypes.","sentence":"Allele T is not associated with concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9810307","article_title":"Evaluation of TS and ENOSF1 Variants as a Biomarker in Response to Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer Patients","article_path":"articles/PMC9810307.md","variant_annotation_id":1451909620,"variant_haplotypes":"rs2612091","gene":"ENOSF1","drugs":"fluorouracil","pmid":36172660,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. The authors describe the effect as \"Patients with genotype AG did not respond to treatment. \" however in table 3 it shows GG as over represented in the responders.","sentence":"Genotype CC is associated with increased response to fluorouracil in people with Stomach Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146202,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2732914","article_title":"Role of the HPA Axis and the A118G Polymorphism of the \u03bc-Opioid Receptor in Stress-Induced Drinking\u00a0Behavior","article_path":"articles/PMC2732914.md","variant_annotation_id":1450812426,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":19240053,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in alcohol intake, craving or latency to access alcohol between the genotype groups in alcoholic subjects subjected to stress.","sentence":"Genotype AG is not associated with dose of ethanol in people with Alcoholism and Stress as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse, Other:Stress","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451673000,"variant_haplotypes":"rs145308399","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11049768","article_title":"The influence of COMT and ABCB1 gene polymorphisms on sufentanil analgesic effect for postoperative pain in children with fracture","article_path":"articles/PMC11049768.md","variant_annotation_id":1452460805,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"sufentanil","pmid":38669362,"phenotype_category":"Dosage","significance":"yes","notes":"\"Pediatric patients in the AA group of COMT had higher pain scores and total consumption of sufentanil at awakening, as well as at 2, 6, 12, and 24 hours postoperatively, compared to the AG and GG groups (P\u2005<\u2005.05). There was no statistically significant difference between the AG and GG groups (P\u2005>\u2005.05).\"","sentence":"Genotype AA is associated with increased dose of sufentanil in children with Pain, Postoperative as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC8184575","article_title":"Effect of race and glucuronidation rates on the relationship between nicotine metabolite ratio and nicotine clearance","article_path":"articles/PMC8184575.md","variant_annotation_id":1451700101,"variant_haplotypes":"rs11726322","gene":"UGT2B10","drugs":"nicotine","pmid":33675323,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No effect of the UGT2B10 variant genotypes on the ability of plasma nicotine metabolite ratio to predict nicotine clearance.","sentence":"Allele G is not associated with clearance of nicotine as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8953705","article_title":"STOP Pain Project\u2014Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways","article_path":"articles/PMC8953705.md","variant_annotation_id":1451732688,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"opioids","pmid":35335997,"phenotype_category":"Dosage","significance":"yes","notes":"no AA homozygotes were observed.","sentence":"Genotype GG is associated with increased dose of opioids in children with Neoplasms and Pain as compared to genotype AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC1978168","article_title":"The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis","article_path":"articles/PMC1978168.md","variant_annotation_id":982046925,"variant_haplotypes":"CYP2D6*1, CYP2D6*6","gene":"CYP2D6","drugs":"codeine","pmid":17517247,"phenotype_category":"Efficacy","significance":"yes","notes":"Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.","sentence":"CYP2D6 *6 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.","alleles":"*6","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11203291","article_title":"Prognostic Role of Human Leukocyte Antigen Alleles and Cytokine Single-Nucleotide Polymorphisms in Patients with Chronic Myeloid Leukemia Treated with Tyrosine Kinase Inhibitor Drugs","article_path":"articles/PMC11203291.md","variant_annotation_id":1452518160,"variant_haplotypes":"HLA-B*57:03","gene":"HLA-B","drugs":"BCR-ABL tyrosine kinase inhibitors","pmid":38927668,"phenotype_category":"Efficacy","significance":"yes","notes":"\"B*57:03:01 showed a higher frequency of 7.3% in the favorable group compared to the unfavorable group (2.4%) (p = 0.0451).\"","sentence":"HLA-B *57:03 is associated with increased clinical benefit to BCR-ABL tyrosine kinase inhibitors in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive.","alleles":"*57:03","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4828529","article_title":"Influence of genetic polymorphisms in the folate pathway on toxicity after high-dose methotrexate treatment in pediatric osteosarcoma","article_path":"articles/PMC4828529.md","variant_annotation_id":1451547006,"variant_haplotypes":"rs1801131","gene":"C1orf167, CLCN6, MTHFR","drugs":"methotrexate","pmid":27104192,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with concentrations of methotrexate in children with Osteosarcoma as compared to allele T.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8890732","article_title":"Effects of cytochrome P450 2B6 and constitutive androstane receptor genetic variation on Efavirenz plasma concentrations among HIV patients in Kenya","article_path":"articles/PMC8890732.md","variant_annotation_id":1451707240,"variant_haplotypes":"rs2279345","gene":"CYP2B6","drugs":"efavirenz","pmid":35235559,"phenotype_category":"Metabolism/PK","significance":"no","notes":"this was significant in preliminary analysis but not in the multivariate analysis. Described in tables as 18492C>T.","sentence":"Allele C is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3462355","article_title":"G PROTEIN RECEPTOR KINASE 4 (GRK4) POLYMORPHISMS: BETA-BLOCKER PHARMACOGENETICS AND TREATMENT RELATED OUTCOMES IN HYPERTENSION","article_path":"articles/PMC3462355.md","variant_annotation_id":981345450,"variant_haplotypes":"rs1024323","gene":"GRK4","drugs":"atenolol","pmid":22949529,"phenotype_category":"Efficacy","significance":"yes","notes":"This decrease in response was only significant* when considered as part of a haplotype with rs2960306. The finding was that increasing copies of rs2960306T-rs1024323T haplotype were associated with significantly reduced atenolol-induced diastolic blood pressure lowering (-9.1\u00b16.8 versus -6.8\u00b17.1 versus -5.3\u00b16.4 mm Hg in participants with 0, 1, and 2 copies respectively). Analysis of the SNP alone showed a trend towards decreased response with the T allele. The association of the haplotype was only observed in rs1801253 CC genotypes in Whites.; *= authors state that the data are statistically significant when Bonferroni-corrected for the number of SNPs tested in the analysis but that they do not meet chip-wide Bonferroni-corrected significance.","sentence":"Allele T is associated with decreased response to atenolol in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5461999","article_title":"Lumacaftor/Ivacaftor Treatment of Patients with Cystic Fibrosis Heterozygous for F508del\u2010CFTR","article_path":"articles/PMC5461999.md","variant_annotation_id":1449192520,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor, lumacaftor","pmid":27898234,"phenotype_category":"Efficacy","significance":"no","notes":"F508del allele. All study participants had the F508del allele on one allele and a second that was predicted to not respond to ivacaftor/lumacaftor treatment. Three out of five outcomes did not show a significant improvement following 56 days of ivacaftor/lumacaftor treatment.","sentence":"Genotype CTT/del is not associated with response to ivacaftor and lumacaftor in people with Cystic Fibrosis.","alleles":"CTT/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3461592","article_title":"Effect of the VKORC1 D36Y variant on warfarin dose requirement and pharmacogenetic dose prediction","article_path":"articles/PMC3461592.md","variant_annotation_id":981239887,"variant_haplotypes":"rs61742245","gene":"VKORC1","drugs":"warfarin","pmid":22871975,"phenotype_category":"Dosage","significance":"yes","notes":"In carriers of allele A, the weekly warfarin dose was increased by a median of 43.7 mg (IQR, 40.5-47.2 mg) compared to non-carriers. Median weekly dose overall = 35 mg (interquartile range [IQR], 24.5 to 52.5 mg).; Also, refinement of the IWPC prediction model to include this variant resulted in significantly better model performance.","sentence":"Genotype AC is associated with increased dose of warfarin in people with warfarin maintenance treatment as compared to genotype CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:warfarin maintenance treatment","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449246811,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5427244","article_title":"Donor CYP3A5 genotype influences tacrolimus disposition on the first day after paediatric liver transplantation","article_path":"articles/PMC5427244.md","variant_annotation_id":1448568122,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":28044353,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Children whose DONOR liver had the *3/*3 genotype had increased trough concentrations and dose-adjusted trough concentrations as compared to those with the *1/*1 or *1/*3 genotypes.","sentence":"CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in children with liver transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821824,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"ritonavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes AA + AG are not associated with concentrations of ritonavir in children with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5309131","article_title":"Meta-analysis of genome-wide association studies of HDL cholesterol response to statins","article_path":"articles/PMC5309131.md","variant_annotation_id":1448266657,"variant_haplotypes":"rs247616","gene":null,"drugs":"hmg coa reductase inhibitors","pmid":27587472,"phenotype_category":"Efficacy","significance":"yes","notes":"GWAS study.","sentence":"Allele T is associated with increased response to hmg coa reductase inhibitors as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4039203","article_title":"Nifedipine pharmacokinetics are influenced by CYP3A5 genotype when used as a preterm labor tocolytic","article_path":"articles/PMC4039203.md","variant_annotation_id":1183682248,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"nifedipine","pmid":22875663,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Women homozygous or heterozygous for the T allele (CYP3A5 *1/*1 or *1/*3) had increased apparent oral clearance (Cl/F; units = L/h), increased apparent volume of distribution (Vd/F; units = L) and decreased average concentration of nifedipine (Cave; units = ug/L) compared to those homozygous for the C allele (CYP3A5 *3/*3).","sentence":"Genotypes CT + TT are associated with increased clearance of nifedipine in women with Pregnancy as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165400,"variant_haplotypes":"rs3025039","gene":"VEGFA","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 3 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele T is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934443,"variant_haplotypes":"rs869312138","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the C allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Leu36Trp in the paper.","sentence":"Allele C is associated with increased response to migalastat in people with Fabry Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11887348","article_title":"CYP2D6 polymorphisms and endoxifen concentration in Chinese patients with breast cancer","article_path":"articles/PMC11887348.md","variant_annotation_id":1452872665,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10","gene":"CYP2D6","drugs":"endoxifen","pmid":40050768,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The median endoxifen concentration was highest in CYP2D6 genotype *1/*2 (24ng/ml, 95%CI 18\u201327 ng/ml) and *1/*10 (23ng/ml, 95%CI 21\u201331 ng/ml, Fig. 1). Patients with genotype *1/*10 were with higher median endoxifen concentrations when compared with patients with *10/*10 (p\u2009=\u20090.0144) and with *2/*10 (p\u2009=\u20090.0337).\"","sentence":"CYP2D6 *10/*10 + *2/*10 is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*10.","alleles":"*10/*10 + *2/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*10","comparison_metabolizer_types":null} -{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452014728,"variant_haplotypes":"CYP2B6*1, CYP2B6*6, CYP2B6*9","gene":"CYP2B6","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared to the reference group, patients homozygous or heterozygous for the CYP2B6*6 or *9 allele had a 25% (n = 40, p = 0.008) and 15% (n = 261, p<0.001) in- creased serum concentration of sertraline, respectively.","sentence":"CYP2B6 *6 + *9 are associated with increased concentrations of sertraline as compared to CYP2B6 *1/*1.","alleles":"*6 + *9","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5427048","article_title":"The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients","article_path":"articles/PMC5427048.md","variant_annotation_id":1448603912,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":28229376,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 *1/*22 is not associated with trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4043918","article_title":"The impact of age and CYP2C9 and VKORC1 variants on stable warfarin dose in the paediatric population","article_path":"articles/PMC4043918.md","variant_annotation_id":1185235722,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":24601977,"phenotype_category":"Dosage","significance":"yes","notes":"Patients who carried the CYP2C9 *2 or *3 variant alleles required 71% the dose of warfarin as compared to those with the wild-type genotype. CYP2C9 genotype was found to account for 6% of the variability in stable warfarin dose (mg/day).","sentence":"CYP2C9 *1/*2 + *1/*3 + *2/*3 is associated with decreased dose of warfarin in children as compared to CYP2C9 *1/*1.","alleles":"*1/*2 + *1/*3 + *2/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978575,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"phenytoin","pmid":15805193,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with increased dose of phenytoin in people with Epilepsy as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340040,"variant_haplotypes":"CYP2C9*1, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, CYP2C9*11 allele is associated with 5.4mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"CYP2C9 *1/*11 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*11","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10852661","article_title":"Effect of APOE and CHRNA7 Genotypes on the Cognitive Response to Cholinesterase Inhibitor Treatment at Different Stages of Alzheimer\u2019s Disease","article_path":"articles/PMC10852661.md","variant_annotation_id":1184747986,"variant_haplotypes":"rs6494223","gene":"CHRNA7","drugs":"donepezil, galantamine, rivastigmine","pmid":24951635,"phenotype_category":"Efficacy","significance":"yes","notes":"In patients with mild Alzheimer's disease only (baseline Mini-Mental State Examination (MMSE) score >= 20); in patients with moderate to severe Alzheimer's (MMSE <20) no significant results were seen (p=0.73). Adjusted for gender, age, baseline MMSE, and presence of the APOE E4 allele. After 6 months of treatment with cholinesterase inhibitors, those with the T allele were more likely to be a responder to treatment, as compared to those without the T allele. A responder was defined as a patient who showed improvement or no deterioration in cognition comparing MMSE scores at baseline with MMSE scores after 6 months. The authors note in the Discussion section that after 24 months of treatment, no significant association was seen.","sentence":"Allele T is associated with increased response to donepezil, galantamine and rivastigmine in people with Alzheimer Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705107,"variant_haplotypes":"rs8113007","gene":null,"drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype AA is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes AT + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":827784973,"variant_haplotypes":"rs8192440","gene":"CRY1","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":"The authors describe this as a nominal association which did not survive correction for multiple testing.","sentence":"Allele G is associated with increased response to lithium in people with Bipolar Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11717999","article_title":"Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations","article_path":"articles/PMC11717999.md","variant_annotation_id":1452808200,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"aripiprazole, dehydroaripiprazole","pmid":39789135,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Regarding ARI/DHA ratio, significant differences between the different variants were observed in the three SNPs analyzed. Specifically, for C3434T it was obtained an ARI/DHA ratio 37.4% higher for CC (2.35) compared to the TT variant (1.71), for G2677T 93% higher for GG (3.27) vs TT (1.69) and for C1236T 64.2% higher for CC (2.93) vs TT (1.78) (Fig. 1A). Comparing Non-T carriers vs. T carriers variants as a whole, yielded 22.3%, 70.07% and 47.43% more respectively, maintaining statistical significance (Fig. 1B).\" \"For ABCB1, the following variants were analyzed: C3435T (rs1045642), C2677 T/A (rs2032582) and C1236T (rs1128503).\"","sentence":"Genotype GG is associated with increased concentrations of aripiprazole and dehydroaripiprazole as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003545,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine were not significantly higher in carriers of the C allele as compared to non-carriers.","sentence":"Allele C is associated with increased concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC9322346","article_title":"The Impact of CYP2C9*11 Allelic Variant on the Pharmacokinetics of Phenytoin and (S)\u2010Warfarin","article_path":"articles/PMC9322346.md","variant_annotation_id":1451909701,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*11","gene":"CYP2C9","drugs":"hydroxyphenytoin","pmid":35426132,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Effect was for Urinary excretion of p\u2010HPPH (hydroxyphenytoin) in 24\u2010hour urine collection.","sentence":"CYP2C9 *1/*11 + *2/*11 is associated with decreased concentrations of hydroxyphenytoin in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*1/*11 + *2/*11","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC9925376","article_title":"Effect of CYP2C19 polymorphisms on antidepressant prescription patterns and treatment emergent mania in bipolar disorder","article_path":"articles/PMC9925376.md","variant_annotation_id":1452032900,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"amitriptyline, clomipramine","pmid":36333412,"phenotype_category":"Other","significance":"yes","notes":"Patients with the CYP2C19 ultrarapid metabolizer phenotype (*17/*17) showed higher risk for discontinuation of amitriptyline or clomipramine treatment than extensive metabolizers (*1/*1). Only rs4244285 and rs12248560 were used to define the phenotype.","sentence":"CYP2C19 *17/*17 is associated with increased discontinuation of amitriptyline or clomipramine in people with Bipolar Disorder as compared to CYP2C19 *1/*1.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7968507","article_title":"ABCB1, CYP2B6, and CYP3A4 Genetic Polymorphisms do not Affect Methadone Maintenance Treatment in HCV-positive Patients","article_path":"articles/PMC7968507.md","variant_annotation_id":1451569080,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":33410778,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with metabolism of methadone in men with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104875,"variant_haplotypes":"rs6627221","gene":"GABRA3","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6995013","article_title":"HSD3B1 genotype identifies glucocorticoid responsiveness in severe asthma","article_path":"articles/PMC6995013.md","variant_annotation_id":1450945340,"variant_haplotypes":"rs1047303","gene":"HSD3B1","drugs":"glucocorticoids","pmid":31932420,"phenotype_category":"Efficacy","significance":"yes","notes":"The adrenal restrictive allele (A) is linked to reduced conversion of DHEA to androgen and poorer-than-usual treatment response and reduced forced expiratory volume, a measure of lung function. In contrast, patients who carried two copies of a \"permissive\" HSD3B1 allele (CC) had increased conversion to androgen and were not associated with reduced lung function in patients with or without daily oral glucocorticoid treatment.","sentence":"Genotypes AA + AC are associated with increased resistance to glucocorticoids in people with Asthma as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2812115","article_title":"CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose","article_path":"articles/PMC2812115.md","variant_annotation_id":769250177,"variant_haplotypes":"rs71486745","gene":"CYP2C9","drugs":"warfarin","pmid":19855097,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"after excluding those patients carrying CYP2C9*2, *3, and VKORC1 variant alleles.","sentence":"Allele del is not associated with dose of warfarin in people with stable INRs in target range of 2-3 as compared to allele GT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:stable INRs in target range of 2-3","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} -{"pmcid":"PMC10974048","article_title":"Exploring Variability in Rifampicin Plasma Exposure and Development of Anti-Tuberculosis Drug-Induced Liver Injury among Patients with Pulmonary Tuberculosis from the Pharmacogenetic Perspective","article_path":"articles/PMC10974048.md","variant_annotation_id":1452431746,"variant_haplotypes":"rs3732357","gene":"NR1I2","drugs":"rifampin","pmid":38543282,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"However, a relationship was found between one of the NR1I2 gene intronic polymorphisms, i.e., rs3732357, and RIF plasma exposure: the results showed that patients with the GA/AA genotype had lower RIF AUC0\u20136 h in comparison to the GG genotype (p = 0.026).\"","sentence":"Genotypes AA + AG is associated with decreased exposure to rifampin in people with Tuberculosis as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175533,"variant_haplotypes":"rs2274407","gene":"ABCC4","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"no","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele A is not associated with clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003201,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"noroxymorphone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Cmax and AUC for noroxymorphone were significantly lower in poor metabolizers than in extensive metabolizers.","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of noroxymorphone in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163209,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3632552","article_title":"The KCNH2 Genetic Polymorphism (1956, C>T) Is a Novel Biomarker That Is Associated with CCB and \u03b1,\u03b2-ADR Blocker Response in EH Patients in China","article_path":"articles/PMC3632552.md","variant_annotation_id":982009266,"variant_haplotypes":"rs1137617","gene":"KCNH2","drugs":"atenolol, bisoprolol, celiprolol, doxazosin","pmid":23613831,"phenotype_category":"Efficacy","significance":"not stated","notes":"however the analysis solely comparing genotypes is not shown and stats are given for GG genotype x gender or age comparisons.","sentence":"Genotype GG is associated with response to atenolol, bisoprolol, Celiprolol or doxazosin in people with Essential hypertension as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4828529","article_title":"Influence of genetic polymorphisms in the folate pathway on toxicity after high-dose methotrexate treatment in pediatric osteosarcoma","article_path":"articles/PMC4828529.md","variant_annotation_id":1451547020,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":27104192,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CT + TT are associated with decreased concentrations of methotrexate in children with Osteosarcoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4867099","article_title":"Pharmacogenetics of unboosted atazanavir in HIV-infected individuals in resource-limited settings: a sub-study of the AIDS Clinical Trials Group (ACTG) PEARLS study (NWCS 342)","article_path":"articles/PMC4867099.md","variant_annotation_id":1447947627,"variant_haplotypes":"CYP3A5 deficiency","gene":"CYP3A5","drugs":"atazanavir","pmid":26892777,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes assessed were CYP3A5*3 (rs776746) and CYP3A5*6 (rs10264272), and categorized as expresser and non-expresser. Looked at ratios of metabolites to atazanavir.","sentence":"CYP3A5 deficiency is not associated with concentrations of atazanavir in people with HIV as compared to CYP3A5 non-deficient.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"non-deficient"} -{"pmcid":"PMC11063049","article_title":"Investigation of inherited noncoding genetic variation impacting the pharmacogenomics of childhood acute lymphoblastic leukemia treatment","article_path":"articles/PMC11063049.md","variant_annotation_id":1452465200,"variant_haplotypes":"rs1247117","gene":null,"drugs":"vincristine","pmid":38693155,"phenotype_category":"PD","significance":"not stated","notes":"\"the risk G allele at rs1247117 was also associated with vincristine resistance in primary ALL cells from patients\"","sentence":"Allele G is associated with increased resistance to vincristine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3890033","article_title":"Association of single nucleotide polymorphisms in MTHFR and ABCG2 with the different efficacy of first-line chemotherapy in metastatic colorectal cancer","article_path":"articles/PMC3890033.md","variant_annotation_id":1184747603,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"antineoplastic agents","pmid":24338217,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype receiving a FOLFOX/XELOX regimen (respectively: fluorouracil, leucovorin, oxaliplatin; capecitabine, oxaliplatin) had a decreased response rate, as compared to those with the GT or TT genotype. No significant difference in response rate was seen in patients receiving a FOLFIRI regimen (fluorouracil, leucovorin, irinotecan). No significant differences in progression-free survival were seen for either regimen. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is associated with decreased response to antineoplastic agents in people with Colorectal Neoplasms as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930652,"variant_haplotypes":"rs6495306","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The G allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele G is not associated with exposure to nicotine in men as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9585281","article_title":"Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention","article_path":"articles/PMC9585281.md","variant_annotation_id":1451930259,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"clopidogrel","pmid":36278153,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449192290,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AC is associated with decreased dose of warfarin as compared to genotype AA.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930602,"variant_haplotypes":"rs6495307","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5505550","article_title":"Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9","article_path":"articles/PMC5505550.md","variant_annotation_id":1448820072,"variant_haplotypes":"rs11572080","gene":"CYP2C8","drugs":"piroxicam","pmid":28740425,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.","sentence":"Allele T is not associated with response to piroxicam as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7497238","article_title":"Real\u2010world effectiveness of eliglustat in treatment\u2010na\u00efve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry","article_path":"articles/PMC7497238.md","variant_annotation_id":1451353708,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer","gene":"CYP2D6","drugs":"eliglustat","pmid":32438452,"phenotype_category":"Dosage","significance":"not stated","notes":"Six patients in the study cohort were determined to be CYP2D6 ultrarapid metabolizers, four of whom recorded an eliglustat dose of 84mg three times daily, while the recommended dose for normal and intermediate metabolizers is 84mg twice daily. Note that eliglustat is not approved for use in CYP2D6 ultrarapid metabolizers. The paper does not detail how CYP2D6 phenotypes were determined.","sentence":"CYP2D6 ultrarapid metabolizer is associated with increased dose of eliglustat in people with Gaucher Disease as compared to CYP2D6 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Gaucher Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC11507373","article_title":"Analysis of ABCB1 Gene Polymorphisms and Their Impact on Tacrolimus Blood Levels in Kidney Transplant Recipients","article_path":"articles/PMC11507373.md","variant_annotation_id":1452683000,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":39456782,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients carrying the AA genotype from the ABCB1 2677 group tend to have lower concentrations than those without the AA genotype, as indicated by the lower mean rank (29.67 vs. 8.33) and p-value = 0.005 (Figure 2).\" \"Genotype analysis revealed that the AA genotype of ABCB1 G2677A was significantly associated with Tc levels within the normal range (p = 0.0111; PFDR = 0.0334; 95% C.I. = 0.01\u20130.08).\"","sentence":"Genotype AA is associated with decreased concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453075985,"variant_haplotypes":"rs6923761","gene":"GLP1R","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Regarding GLP1R gene polymorphisms, patients with the rs6923761 AA homozygous genotype in the study group had a median HbA1c improvement of 0.90 (IQR, 0.61\u20131.01), while the control group showed 1.41 (IQR, 1.12\u20131.45; P\u2005=\u2005.010), suggesting reduced glycemic response to sitagliptin.\"","sentence":"Genotype AA is associated with decreased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4454552","article_title":"Effects of the CYP3A4*1B Genetic Polymorphism on the Pharmacokinetics of Tacrolimus in Adult Renal Transplant Recipients: A Meta-Analysis","article_path":"articles/PMC4454552.md","variant_annotation_id":1444842728,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":26039043,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Trough concentration/weight-adjusted tacrolimus daily dose ratio (C0/Dose ratio) was significantly higher in rs 2740574 TT genotype (CYP3A4*1/*1) compared to CT and CC genotypes (CYP3A4*1B carriers) at 6 months (WMD 52.588; 95% CI 22.387 ~ 82.789) and 12 months (WMD 62.219; 95% CI 14.218 ~ 110.221) post-transplantation.","sentence":"Allele C is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4057281","article_title":"Characterization of raloxifene glucuronidation. Potential role of UGT1A8 genotype on raloxifene metabolism in vivo","article_path":"articles/PMC4057281.md","variant_annotation_id":1184483370,"variant_haplotypes":"UGT1A8*1a, UGT1A8*2, UGT1A8*3","gene":"UGT1A8","drugs":"raloxifene","pmid":23682072,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Those with the *1/*3 genotype (slow raloxifene metabolizers) had decreased dose-adjusted raloxifene metabolite levels in plasma, as compared to those with the *1/*1 and *1/*2 genotypes (intermediate metabolizers) and the *2/*2 genotype (fast metabolizers). Metabolites included raloxifene-6-glucuronide, raloxifene-4'-glucuronide and total raloxifene-glucuronide. Subjects were either given 30 or 60mg of raloxifene.","sentence":"UGT1A8 *1a/*3 (assigned as poor metabolizer phenotype) is associated with increased metabolism of raloxifene in women as compared to UGT1A8 *1a/*1a + *1a/*2 + *2/*2 (assigned as intermediate metabolizer and normal metabolizer phenotype) .","alleles":"*1a/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1a/*1a + *1a/*2 + *2/*2","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603555,"variant_haplotypes":"rs1800872","gene":"IL10","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose-adjusted trough concentration was seen between patients with the TT genotype and those with the GG + GT genotypes at weeks 1, 2, 3 or 4 post-transplant. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930627,"variant_haplotypes":"rs555018","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The G allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele G is not associated with exposure to nicotine in men as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104940,"variant_haplotypes":"rs2230912","gene":"P2RX7","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele G is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4573240","article_title":"Genome-wide association study of warfarin maintenance dose in a Brazilian sample","article_path":"articles/PMC4573240.md","variant_annotation_id":1446533819,"variant_haplotypes":"rs749671","gene":"VKORC1","drugs":"warfarin","pmid":26265036,"phenotype_category":"Dosage","significance":"yes","notes":"The G allele was strongly associated with high warfarin dose (G allele, OR: 20.4 [14.3\u201329.0]; p = 1.08 \u00d7 10-33) in Brazilian patients.","sentence":"Allele G is associated with increased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510516,"variant_haplotypes":"rs4867798","gene":"DRD1","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5700347","article_title":"Observational Study of Associations between Voriconazole Therapeutic Drug Monitoring, Toxicity, and Outcome in Liver Transplant Patients","article_path":"articles/PMC5700347.md","variant_annotation_id":1449146934,"variant_haplotypes":"CYP2C19 poor metabolizers and intermediate metabolizers","gene":"CYP2C19","drugs":"voriconazole","pmid":28923870,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Poor metabolizers = PMs (n=7); Intermediate metabolizers = IMs (n=24); Extensive metabolizers = EMs (n=30); Ultrarapid metabolizers = UMs (n=14). Patients were liver transplant recipients with known or suspected invasive fungal infections.","sentence":"CYP2C19 poor metabolizers and intermediate metabolizers are associated with increased trough concentration of voriconazole in people with Mycoses as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5558527","article_title":"A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering","article_path":"articles/PMC5558527.md","variant_annotation_id":1447986196,"variant_haplotypes":"rs2075650","gene":"TOMM40","drugs":"hmg coa reductase inhibitors","pmid":27045730,"phenotype_category":"Efficacy","significance":"yes","notes":"as part of a three SNP genetic risk score with rs2231142 in ABCG2 and rs10455872 in LPA. Associated allele not explicitly stated but methods reference Chasman et al., so used the associated allele from there [PMID:22331829].","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703293,"variant_haplotypes":"rs739645","gene":"CRHR1","drugs":"fluticasone propionate","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The minor allele is reported to be associated with increased response.","sentence":"Allele G is associated with increased response to fluticasone propionate in people with Asthma as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3940150","article_title":"Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine","article_path":"articles/PMC3940150.md","variant_annotation_id":1448993544,"variant_haplotypes":"rs1042389","gene":"CYP2B6","drugs":"efavirenz, non-nucleoside reverse transcriptase inhibitors","pmid":22951632,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to efavirenz or non-nucleoside reverse transcriptase inhibitors in women with HIV Infections as compared to genotype TT.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183632046,"variant_haplotypes":"rs4815273","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was with systolic blood pressure response. Observations: 2.91 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA, 0.39 mm Hg increased reduction of systolic blood pressure per T allele in NORDIL, and 2.34 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA + NORDIL. This association was significant in PEAR + GERA but not in the replication cohort NORDIL nor in the 3 cohort meta-analysis.","sentence":"Allele T is associated with increased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672720,"variant_haplotypes":"rs1302192284","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele C is associated with decreased metabolism of nicotine as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11203291","article_title":"Prognostic Role of Human Leukocyte Antigen Alleles and Cytokine Single-Nucleotide Polymorphisms in Patients with Chronic Myeloid Leukemia Treated with Tyrosine Kinase Inhibitor Drugs","article_path":"articles/PMC11203291.md","variant_annotation_id":1452518140,"variant_haplotypes":"HLA-A*23:17","gene":"HLA-A","drugs":"BCR-ABL tyrosine kinase inhibitors","pmid":38927668,"phenotype_category":"Efficacy","significance":"yes","notes":"\"In the treated cohorts, we found less HLA-A*23:17:01 (p-value = 0.0285) in the favorable group compared to the unfavorable group.\" Zero *23:17 were reporteded in the favorable group in Table 4","sentence":"HLA-A *23:17 is associated with decreased clinical benefit to BCR-ABL tyrosine kinase inhibitors in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive.","alleles":"*23:17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452725942,"variant_haplotypes":"rs7541245","gene":"PRKAB2","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"\"he Locus Zoom plot for PRKAB2 (Supplementary Figure 1) placed rs7541245, the most significant (p=0.0019) SNP, as outside the gene boundaries. 5 SNPs (rs6665580, rs6659191, rs6678588, rs7541245, rs10494243) in high LD within PRKAB2, were found to be significantly associated with a decrease in glycemic response after metformin exposure. In summary, variation in PRKAB2, the gene encoding the beta subunit 2 of adenosine monophosphate-activated protein kinase complex, appears to be associated with decreases in glycemic response after exposure to metformin, with rs7541245 having the strongest SNP association.\" Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\"","sentence":"Allele A is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2981241","article_title":"Population Pharmacokinetic Modeling of the Association between 63396C\u2192T Pregnane X Receptor Polymorphism and Unboosted Atazanavir Clearance","article_path":"articles/PMC2981241.md","variant_annotation_id":749069601,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"atazanavir","pmid":20921307,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"TT was associated with 17% higher clearance of unboosted atazanavir.","sentence":"Genotype TT is associated with increased metabolism of atazanavir in people with HIV Infections as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238754,"variant_haplotypes":"rs874295","gene":"LRP1B","drugs":"risperidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: reported allele was C, this has been complemented to the plus chromosomal strand. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to risperidone in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5316146","article_title":"Evidence for benefit of statins to modify cognitive decline and risk in Alzheimer\u2019s disease","article_path":"articles/PMC5316146.md","variant_annotation_id":1450973900,"variant_haplotypes":"rs429358","gene":"APOE","drugs":"hmg coa reductase inhibitors","pmid":28212683,"phenotype_category":"Efficacy","significance":"yes","notes":"Analysis of 859 subjects with AD (ROS/MAP dataset) and re-analysis of a clinical trial of simvastatin in 171 AD patients (simvastatin trial) found no significant difference in ADAS-cog scores between statin-treated patients and those treated with placebo. However, analysis of separate genotype subgroups found that E4/E4 subjects in the ROS/MAP dataset had significantly better cognitive function over a 10-year follow-up compared to those treated with placebo. Additionally, there was a non-significant trend in the simvastatin trial for subjects with the E4/E4 genotype who were treated with simvastatin to have lower ADAS-cog scores than E4/E4 patients treated with placebo.","sentence":"Genotype CC is associated with increased response to hmg coa reductase inhibitors in people with Alzheimer Disease as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4038142","article_title":"Voriconazole Metabolism, Toxicity, and the Effect of Cytochrome P450 2C19 Genotype","article_path":"articles/PMC4038142.md","variant_annotation_id":1444827994,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":24403552,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased concentrations of voriconazole as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682460,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is in almost complete LD with rs12979860 (r2=0.94) in caucasians. This variant was significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele TT is associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele G.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479851,"variant_haplotypes":"rs472660","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5469860","article_title":"Association of Polymorphisms in Pharmacogenetic Candidate Genes with Propofol Susceptibility","article_path":"articles/PMC5469860.md","variant_annotation_id":1449005403,"variant_haplotypes":"rs11503014","gene":"GABRA2","drugs":"propofol","pmid":28611364,"phenotype_category":"Other","significance":"yes","notes":"Patients with the CC genotype had significantly smaller decreases (-9.44% +/-6.94%) in heart rate after propofol anesthesia as compared to patients with the CG or GG genotypes (-12.85% +/- 8.54). Please note: the authors examined 58 SNPs but did not do multiple testing corrections.","sentence":"Genotype CC is associated with decreased response to propofol as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2791975","article_title":"A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans","article_path":"articles/PMC2791975.md","variant_annotation_id":1448995884,"variant_haplotypes":"CYP2B6*1, CYP2B6*11","gene":"CYP2B6","drugs":"efavirenz","pmid":19916993,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects homozygous for CYP2B6*11 displayed 20% lower apparent oral clearance as compared to wild type.","sentence":"CYP2B6 *11 is associated with decreased clearance of efavirenz in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*11","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4105486","article_title":"Dose-Finding and Pharmacokinetic Study to Optimize the Dosing of Irinotecan According to the UGT1A1 Genotype of Patients With Cancer","article_path":"articles/PMC4105486.md","variant_annotation_id":1185235201,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":24958824,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose-adjusted irinotecan area under the plasma concentration-time curve (AUC) was seen between the two genotype groups.","sentence":"UGT1A1 *1/*28 + *28/*28 is not associated with concentrations of irinotecan in people with Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161540,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*2xN","gene":"CYP2D6","drugs":"methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2D6 ultrarapid metabolizers had significantly higher doses of (R)-, (S)- and (R,S)-methadone compared to those classed as normal metabolizers. No details about which specific variants/alleles were tested for are given and it is not apparent how different genotypes were categorized into metabolizer phenotypes.","sentence":"CYP2D6 *1/*2xN + *2/*2xN (assigned as ultrarapid metabolizer phenotype) are associated with increased concentrations of methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":"*1/*2xN + *2/*2xN","specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680819,"variant_haplotypes":"rs1042389","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype TT is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501842,"variant_haplotypes":"rs4148386","gene":"ABCC2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was only significant in the African American patients and not in Caucasian patients. Carbamazepine-10-11 epoxide: carbamazepine ratio was also significantly higher in African American patients with AA+AG vs GG (p=0.049).","sentence":"Genotypes AA + AG are associated with increased clearance of carbamazepine in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146147,"variant_haplotypes":"rs2244613","gene":"CES1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5412267","article_title":"OPRM1 c.118A>G Polymorphism and Duration of Morphine Treatment Associated with Morphine Doses and Quality-of-Life in Palliative Cancer Pain Settings","article_path":"articles/PMC5412267.md","variant_annotation_id":1448612958,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":28346387,"phenotype_category":"Dosage","significance":"yes","notes":"The setting was for palliative care of cancer patients.","sentence":"Genotype AG is associated with increased dose of morphine in people with Neoplasms as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5003027","article_title":"TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics","article_path":"articles/PMC5003027.md","variant_annotation_id":1447979333,"variant_haplotypes":"rs696692","gene":"ERICH3","drugs":"serotonin","pmid":26903268,"phenotype_category":"Other","significance":"yes","notes":"in patients taking citalopram or escitalopram. Baseline plasma serotonin concentrations before SSRI therapy, as well as changes in serotonin were used as a biomarker for response to SSRIs and GWAS was done w/respect to changes in plasma serotonin concentration. The T allele was associated with higher baseline plasma serotonin concentrations, as well as greater decreases in plasma serotonin concentrations at 4 and 8 weeks after beginning SSRI therapy.","sentence":"Allele T is associated with decreased concentrations of serotonin in people with Depressive Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4672523","article_title":"Contribution of BDNF and DRD2 genetic polymorphisms to continued opioid use in patients receiving methadone treatment for opioid use disorder: an observational study","article_path":"articles/PMC4672523.md","variant_annotation_id":1449164214,"variant_haplotypes":"rs6265","gene":"BDNF","drugs":"methadone","pmid":26437921,"phenotype_category":"Efficacy","significance":"no","notes":"Response to methadone was measured as the number of urine screens which were positive for opioids during methadone treatment.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5342450","article_title":"Pharmacogenomics of platinum-based chemotherapy response in NSCLC: a genotyping study and a pooled analysis","article_path":"articles/PMC5342450.md","variant_annotation_id":1448123553,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"Platinum compounds","pmid":27248474,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Patients with GA or GG genotypes of XRCC1 G1196 had better response than AA genotype carriers (Genotyping study: OR = 0.72, 95%CI: 0.53-0.96, P = 0.028; Meta-analysis: OR = 0.74, 95%CI: 0.62-0.89, P = 0.001).\"","sentence":"Genotypes CC + CT are associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046488,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"Patients with the CC genotype had better response to platinum based chemotherapy than patients with other genotypes.","sentence":"Genotype CC is associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1451928880,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"and lower tmax remained significant after Bonferroni. Subjects with the *1/*3 (or rs12208357 C/T) genotype for SLC22A1 showed lower tmax than subjects with the *1/*1 (or rs12208357 C/C) genotype","sentence":"Genotype CT is associated with decreased clearance of rasagiline in healthy individuals as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3522814","article_title":"Pharmacogenetic markers of CYP2B6 associated with efavirenz plasma concentrations in HIV-1 infected Thai adults","article_path":"articles/PMC3522814.md","variant_annotation_id":1448993933,"variant_haplotypes":"rs8192709","gene":"CYP2B6","drugs":"efavirenz","pmid":22471906,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CT + TT are not associated with concentrations of efavirenz in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11401437","article_title":"CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids","article_path":"articles/PMC11401437.md","variant_annotation_id":1452590160,"variant_haplotypes":"rs758900656","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":39272186,"phenotype_category":"PD","significance":"not stated","notes":"\"We then investigated the response to CFTR modulators of the rare and uncharacterized variant T465N using rectal organoids derived from a CF patient carrying the T465N/Q39X genotype.\"\"Ivacaftor (VX-770) alone could not potentiate the T465N/Q39X-CFTR function as registered in both assays. The use of single correctors such as lumacaftor (VX-809) and tezacaftor (VX-661) also contributed minimally to the channel restoration with no difference in organoid swelling rates or anion secretion.\"\"ETI triple therapy increased CFTR-T465N processing and trafficking significantly, enhancing anion transport and FIS rates in vitro.\"\"the theratyping of the very rare T465N variant present in trans with a null allele in patient-derived organoids predicted potential clinical benefits of ETI treatment for patients with this variant.\"","sentence":"Allele A is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2291379","article_title":"Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants","article_path":"articles/PMC2291379.md","variant_annotation_id":1183617434,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"citalopram, escitalopram, fluoxetine, fluvoxamine, paroxetine, sertraline","pmid":18070221,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"(*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) SSRIs were grouped together for this analysis (32.5 % of patients were taking paroxetine; 13.4% fluvoxamine;11.6% fluoxetine; 7.3% sertraline;4.6% citalopram;0.1% escitalopram. Mean SSRI dose was significantly lower at the 3rd prescription (difference 0.17 DDD) but not significant for the following prescriptions. Genotypes were not in Hardy-Weinberg equilibrium; frequency below is for a larger population that included patients treated with other antidepressants.","sentence":"CYP2D6 *4/*4 is associated with decreased dose of citalopram, escitalopram, fluoxetine, fluvoxamine, paroxetine or sertraline in people with Depression as compared to CYP2D6 *1/*1.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4375579","article_title":"Thiopurine metabolites variations during co-treatment with aminosalicylates for inflammatory bowel disease: Effect of N-acetyl transferase polymorphisms","article_path":"articles/PMC4375579.md","variant_annotation_id":1447814077,"variant_haplotypes":"NAT1*3, NAT1*4, NAT1*10","gene":"NAT1","drugs":"mesalazine, thioguanine","pmid":25834322,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Genotyping based on two SNPs: rs1057126 (T1088A) and rs15561 (C1095A). Analysis compared slow acetylators versus rapid acetylators.","sentence":"NAT1 *10 is associated with decreased concentrations of mesalazine and thioguanine in children with Colitis, Ulcerative, Crohn Disease and Inflammatory Bowel Diseases as compared to NAT1 *4 + *3.","alleles":"*10","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Ulcerative Colitis, Disease:Crohn Disease, Disease:Inflammatory Bowel Diseases","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*4 + *3","comparison_metabolizer_types":null} -{"pmcid":"PMC11236688","article_title":"Case report: dose-dependent interaction between dexamethasone and voriconazole in severely ill patients with non-Hodgkin\u2019s lymphoma being treated for invasive pulmonary aspergillosis","article_path":"articles/PMC11236688.md","variant_annotation_id":1452529443,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":38994198,"phenotype_category":"Metabolism/PK","significance":"no","notes":"in a patient when co-administered with dexamethasone. \"To our knowledge, this is the first report of a dose-dependent interaction between voriconazole and dexamethasone in the patient carrying the CYP2C19*1*2 genotype (IM). \"","sentence":"CYP2C19 *1/*2 (assigned as intermediate metabolizer phenotype) is associated with decreased exposure to voriconazole in men with Lymphoma, Non-Hodgkin.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Non-Hodgkin Lymphoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8578190","article_title":"Pharmacogenetics of Interaction between Depot Medroxyprogesterone Acetate and Efavirenz, Rifampicin and Isoniazid during Treatment of HIV and Tuberculosis","article_path":"articles/PMC8578190.md","variant_annotation_id":1451931261,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"medroxyprogesterone","pmid":34369424,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant associations between NAT2 acetylator status and any primary pharmacokinetic parameter for medroxyprogesterone acetate. Patients also receiving efavirenz-based ART and rifampicin plus isoniazid for treatment. NAT2 genotypes were categorized based on combinations of rs1801280 (NAT2*5), rs1799930 (NAT2*6), rs1799931 (NAT2*7), and rs1801279 (NAT2*14), as slow if homozygous for the variant allele at any locus (i.e. AA, CC, AA, and AA, respectively), or heterozygous at 2 or more loci; intermediate if heterozygous at a single locus; or extensive if no variant allele at any locus. 5(11%) were NAT2 rapid acetylators, 20(45%) were NAT2 intermediate acetylators, and 19(43%) were NAT2 slow acetylators.","sentence":"NAT2 slow acetylator is not associated with metabolism of medroxyprogesterone in women with HIV Infections and Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634151,"variant_haplotypes":"rs7247267","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend but significance was not attained. Observations: 2.81mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA, 0.07 mm Hg decreased reduction of diastolic blood pressure per T allele in NORDIL, and 1.40 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is associated with decreased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4271081","article_title":"DPYD Variants as Predictors of 5-fluorouracil Toxicity in Adjuvant Colon Cancer Treatment (NCCTG N0147)","article_path":"articles/PMC4271081.md","variant_annotation_id":1448125884,"variant_haplotypes":"rs67376798","gene":"DPYD","drugs":"fluorouracil","pmid":25381393,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was not associated with disease-free survival time.","sentence":"Genotype AT is not associated with response to fluorouracil in people with Colonic Neoplasms as compared to genotype TT.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colonic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4137828","article_title":"Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients","article_path":"articles/PMC4137828.md","variant_annotation_id":1184470912,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":24528196,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"3 - 12 months post-transplant. In multivariate linear regression analysis, the AAA/AAA haplotype (rs1045642, rs1128503, rs2032582) showed a significant effect on dose-adjusted trough concentrations (C0/D) of tacrolimus (those with the AAA/AAA haplotype have increased C0/D compared to those with non-AAA/AAA haplotypes). In chi-squared analyses, no significant association was seen for trough concentrations or dose. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with decreased clearance of tacrolimus in people with Kidney Transplantation.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4932617","article_title":"Rapid and ultra-rapid metabolizers with CYP2C19*17 polymorphism do not respond to standard therapy with proton pump inhibitors","article_path":"articles/PMC4932617.md","variant_annotation_id":1448125906,"variant_haplotypes":"CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"esomeprazole, pantoprazole","pmid":27419077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Blood samples were collected to determine plasma concentration at 0, 1, 3, 4, 6, and 24 hours after the dose on the first and last day of administration","sentence":"CYP2C19 *17/*17 is associated with increased clearance of esomeprazole and pantoprazole in healthy individuals as compared to CYP2C19 *2/*3.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":"and","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184756158,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"yes","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\" rs1057910 remained significantly associated with warfarin maintenance dose in the multivariate analysis.","sentence":"Allele A is associated with increased dose of warfarin in people with heart valve replacement as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726008,"variant_haplotypes":"rs2120274","gene":"SLC47A1","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs2120274 as top SNP for SLC47A1","sentence":"Allele A is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634313,"variant_haplotypes":"rs689979","gene":"ERCC6L2","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"Significance was not attained. Observations: 2.68 mm Hg decreased reduction of systolic blood pressure per T allele in PEAR + GERA, 0.26 mm Hg increased reduction of systolic blood pressure per T allele in NORDIL, and 1.84 mm Hg decreased reduction of systolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10501538","article_title":"Genetic polymorphisms of microsomal epoxide hydrolase and UDP-glucuronosyltransferase (UGT) and its effects on plasma carbamazepine levels and metabolic ratio in persons with epilepsy of South India: A cross-sectional genetic association study","article_path":"articles/PMC10501538.md","variant_annotation_id":1452207200,"variant_haplotypes":"rs7439366","gene":"UGT2B7","drugs":"carbamazepine","pmid":37555408,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"In UGT2B7*2, PWE carrying homozygous mutant genotype (TT) had higher levels when compared with CT (3.09 \u03bcg/mL vs. 2.74 \u03bcg/mL) (conversion of the natural logarithm of plasma CBZ to plasma CBZ level using e^lnplasma CBZ level) and found no statistical significance between the above UGT2B7 genotypes and plasma CBZ levels\"","sentence":"Genotype TT is associated with increased dose-adjusted trough concentrations of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602059,"variant_haplotypes":"rs2942857","gene":"UGT2B10","drugs":"nicotine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This annotation was on rs116294140, but dbSNP has merged these two rs IDs.","sentence":"Genotype CC is not associated with increased exposure to nicotine in people with Tobacco Use Disorder as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC2561120","article_title":"Pharmacogenomic studies of the anticancer and immunosuppressive thiopurines mercaptopurine and azathioprine","article_path":"articles/PMC2561120.md","variant_annotation_id":1448268147,"variant_haplotypes":"rs7270101","gene":"ITPA","drugs":"azathioprine, mercaptopurine","pmid":18662289,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"as measured by higher concentrations of 6-TGNs in RBCs.","sentence":"Genotypes AC + CC is associated with increased metabolism of azathioprine or mercaptopurine in people with Inflammatory Bowel Diseases or Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AC + CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Inflammatory Bowel Diseases, Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC8081740","article_title":"Effects of NT5C2 germline variants on 6-mecaptopurine metabolism in children with acute lymphoblastic leukemia","article_path":"articles/PMC8081740.md","variant_annotation_id":1451502800,"variant_haplotypes":"rs72846714","gene":"NT5C2","drugs":"mercaptopurine","pmid":33124053,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is associated with a significant decrease in TGN metabolite levels during 6-MP treatment in Children With Acute Lymphoblastic Leukemia. The study showed that rs72846714 was not located in a regulatory element and instead its association signal was explained by linkage disequilibrium with a proximal functional variant rs12256506 that activated NT5C2 transcription in-cis.","sentence":"Genotypes AA + AG are associated with decreased metabolism of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930506,"variant_haplotypes":"rs3784921","gene":"TXNDC11","drugs":"hydrochlorothiazide","pmid":29650764,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5391214","article_title":"Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects","article_path":"articles/PMC5391214.md","variant_annotation_id":1451352842,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*15","gene":"SLCO1B1","drugs":"atorvastatin","pmid":28435225,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Note *17 was listed in the original publication. *17 was merged with *15 due to PharmVar 2021 update.","sentence":"SLCO1B1 *15 is associated with increased concentrations of atorvastatin in healthy individuals as compared to SLCO1B1 *1/*1.","alleles":"*15","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822133,"variant_haplotypes":"rs10485057","gene":"OPRM1","drugs":"ethanol","pmid":26042510,"phenotype_category":"Dosage","significance":"yes","notes":"Subjects with the AA genotype has a significantly increased pure alcohol intake and were significantly more likely to be alcohol consumers compared to subjects with the AG genotype.","sentence":"Genotype AA is associated with increased dose of ethanol as compared to genotype AG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491496,"variant_haplotypes":"rs2932538","gene":"MOV10","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with response to atenolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919893,"variant_haplotypes":"rs558364281","gene":"GRID2","drugs":"6-hydroxy r-warfarin, 6-hydroxy s-warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"measured as increased RS-6OH-warfarin and using a genome wide significance threshold of < 3.846 \u00d7 10\u22129.","sentence":"Allele G is associated with increased concentrations of 6-hydroxy r-warfarin and 6-hydroxy s-warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10825484","article_title":"The atorvastatin metabolite pattern in muscle tissue and blood plasma is associated with statin muscle side effects in patients with coronary heart disease; An exploratory case-control study","article_path":"articles/PMC10825484.md","variant_annotation_id":1452373060,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"2-hydroxyatorvastatin lactone, 4-hydroxyatorvastatin lactone, atorvastatin lactone","pmid":38293288,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Comparison was for \"UGT1A1 CC and UGT1A3 no *2 allele\" vs \"UGT1A1 CT or TT and/or UGT1A3 one or two *2 alleles\" and sum of lactones in plasma or muscle. (Supplementary 2-Table 2. )","sentence":"Genotype CC is associated with decreased concentrations of 2-hydroxyatorvastatin lactone, 4-hydroxyatorvastatin lactone and atorvastatin lactone in people with Coronary Disease as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003217,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer genotype","gene":"CYP2D6","drugs":"noroxycodone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC for noroxycodone was significantly lower in poor metabolizers than in extensive metabolizers. However, differences in Cmax between the two metabolizer genotypes failed to reach significance.","sentence":"CYP2D6 ultrarapid metabolizer is associated with decreased exposure to noroxycodone in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682059,"variant_haplotypes":"rs2071559","gene":"KDR","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"no","notes":"Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes or central subfield macular thickness (CSMT) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.","sentence":"Allele A is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5298566","article_title":"Potential of a Pharmacogenetic-Guided Algorithm to Predict Optimal Warfarin Dosing in a High-Risk Hispanic Patient: Role of a Novel NQO1*2 Polymorphism","article_path":"articles/PMC5298566.md","variant_annotation_id":1448604092,"variant_haplotypes":"rs1800566","gene":"NQO1","drugs":"warfarin","pmid":28210634,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case study of one woman who developed deep abdominal vein thrombosis secondary to the use of contraceptives.","sentence":"Allele A is associated with decreased response to warfarin in women with Thrombosis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Thrombotic disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5324942","article_title":"The effect of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirements in a pediatric population","article_path":"articles/PMC5324942.md","variant_annotation_id":1448104687,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":27182616,"phenotype_category":"Dosage","significance":"yes","notes":"The average daily warfarin dose required for maintenance therapy in patients with T allele was 4.26\u00b11.24, whereas it was 4.80\u00b11.55in those without this mutation.","sentence":"Allele T is associated with decreased dose of warfarin in children as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3940150","article_title":"Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine","article_path":"articles/PMC3940150.md","variant_annotation_id":1448993538,"variant_haplotypes":"rs34097093","gene":"CYP2B6","drugs":"efavirenz, non-nucleoside reverse transcriptase inhibitors","pmid":22951632,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to efavirenz or non-nucleoside reverse transcriptase inhibitors in women with HIV Infections as compared to genotype TT.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371773,"variant_haplotypes":"CYP3A5 poor metabolizers","gene":"CYP3A5","drugs":"maraviroc","pmid":30192390,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no significant difference in average maraviroc plasma concentrations between CYP3A5 intermediate and poor metabolizers.","sentence":"CYP3A5 poor metabolizer is not associated with concentrations of maraviroc in people with HIV Infections as compared to CYP3A5 intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer"} -{"pmcid":"PMC4982581","article_title":"Pharmacokinetic profiles of significant adverse events with crizotinib in Japanese patients with ABCB1 polymorphism","article_path":"articles/PMC4982581.md","variant_annotation_id":1450989140,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"crizotinib","pmid":27270784,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was only one individual who was AA at all three locations that define *2 (rs1128503, rs2032582 and rs1045642). Individuals who were AA at one location (n=3) also had slightly increased exposure compared to \"wild type or heterozygotes\" (n=4). Increased exposure was significantly associated with toxicity. (alleles complemented to plus chromosomal strand)","sentence":"Genotype AA is associated with increased exposure to crizotinib in people with.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672700,"variant_haplotypes":"rs61605570","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271245,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between genotypes.","sentence":"Genotypes AA + AG is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to genotype AA.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC1769026","article_title":"Comparison of the effect of enalapril and losartan in conjunction with surgical coronary revascularisation versus revascularisation alone on systemic endothelial function","article_path":"articles/PMC1769026.md","variant_annotation_id":982043371,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"enalapril, losartan","pmid":16020596,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the ATA.../ATA... genotype had greater percent improvement in brachial artery flow mediated dilation (FMD; a way to analyze endothelial function) after enalapril or losartan treatment for 5 months, as compared to those with the remaining genotypes. Please note that patients underwent coronary artery bypass graft surgery 2 months into treatment with these drugs.","sentence":"Genotype ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC is associated with increased response to enalapril and losartan in men with Coronary Disease as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del + del/del.","alleles":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in men with","population_phenotypes_or_diseases":"Disease:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del + del/del","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166032,"variant_haplotypes":"rs3810818","gene":"CORO7","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678164,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors evaluated daily dose and maintenance dose and calculated the means for each genotype. The TT genotype is associated with a higher mean daily dose and higher mean maintenance dose of carbamazepine (CBZ). Mean CBZ daily dose (mg/day) for the TT genotype was 694 vs. 509-531 for the CT and CC genotypes, respectively. Mean CBZ maintenance dose for the TT genotype was 10.48 versus 7.79-7.96 for the CC and CT genotypes, respectively. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6493603","article_title":"Effects of SCN1A and GABA Receptor Genetic Polymorphisms on Carbamazepine Tolerability and Efficacy in Chinese Patients with Partial Seizures: 2\u2010Year Longitudinal Clinical Follow\u2010Up","article_path":"articles/PMC6493603.md","variant_annotation_id":982023314,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"carbamazepine","pmid":22591328,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype were more likely to have a \"good\" response to carbamazepine. A \"good\" response was classified as seizure free over 24 months of treatment. A \"bad\" response was classified as anything other than seizure free. This significant result was only seen for months 3-15 of treatment. No significant result was seen for months 15-24 months of treatment. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with increased response to carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4995153","article_title":"The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy","article_path":"articles/PMC4995153.md","variant_annotation_id":1447947045,"variant_haplotypes":"rs11591147","gene":"PCSK9","drugs":"hmg coa reductase inhibitors","pmid":26902539,"phenotype_category":"Efficacy","significance":"yes","notes":"There was a 55.6% greater reduction in low-density lipoprotein cholesterol (LDL-C) in carriers of the T alleles as compared to those with the GG genotype. Note that carriers of the T allele were also associated with significantly decreased LDL-C levels at baseline (p=0.00022), though the result for response to statins was adjusted for this association. A p-value <0.0045 was considered statistically significant. The authors do not specify the composition of T allele carriers (i.e. heterozygotes, homozygotes, or both).","sentence":"Allele T is associated with increased response to hmg coa reductase inhibitors in people with Hypercholesterolemia as compared to genotype GG.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11158672","article_title":"Influence of ABCB1 and ABCG2 polymorphisms on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11158672.md","variant_annotation_id":769250961,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"doxorubicin","pmid":18377430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significance given for the haplotype of ABCB1 c.1236C>T, c.2677G>A/T, and c.3435C>T (rs1128503, rs2032582 and rs1045642) which was associated with increased drug exposure and reduced clearance. Patients harboring the CC-GG-CC genotypes had significantly lower peak plasma concentrations of doxorubicinol compared to patients who had TT-TT-TT genotypes (P = 0.03).","sentence":"Genotype AA is associated with decreased metabolism of doxorubicin in people with Breast Neoplasms as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7870766","article_title":"Brain/blood ratios of methadone and ABCB1 polymorphisms in methadone-related deaths","article_path":"articles/PMC7870766.md","variant_annotation_id":1451401904,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"methadone","pmid":33454797,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and medulla/blood concentration ratios of methadone. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with concentrations of methadone as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11720188","article_title":"Effect of Genetic Variants on Rosuvastatin Pharmacokinetics in Healthy Volunteers: Involvement of ABCG2, SLCO1B1 and NAT2","article_path":"articles/PMC11720188.md","variant_annotation_id":1452808320,"variant_haplotypes":"ABCG2 poor metabolizer","gene":"ABCG2","drugs":"rosuvastatin","pmid":39796117,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"A significant increase was observed in AUC\u221e/DW(803.58\u00b1256.17h*ng*kg/mL*mg, p<0.001; pmv<0.001,\u03b2=0.467,R2=0.264),AUC72h/DW(766.54\u00b1289.52h*ng*kg/mL*mg, p<0.001;pmv<0.001,\u03b2=0.449,R2=0.302)andCmax/DW(76.98\u00b131.87ng*kg/mL*mg, p<0.001; pmv<0.001,\u03b2=0.480,R2=0.292) in decreased function(DF)+poor function(PF) volunteers forABCG2 transporter in comparison to normal function(NF) volunteers(Table3).\" Authors reference CPIc and Dutch guidelines but do not specify which variants were measured in ABCG2.","sentence":"ABCG2 poor metabolizer and reduced metabolizers is associated with increased dose-adjusted trough concentrations of rosuvastatin in healthy individuals as compared to ABCG2 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and reduced metabolizers","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694848,"variant_haplotypes":"rs10517","gene":"NQO1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438084,"variant_haplotypes":"rs9305223","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5E-9. This variant was in strong linkage disequilibrium with rs4816969 and rs2226443.","sentence":"Allele G is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359593,"variant_haplotypes":"rs5320","gene":"DBH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4445755","article_title":"Genetic variants in combination with early partial improvement as a clinical utility predictor of treatment outcome in major depressive disorder: the result of two pooled RCTs","article_path":"articles/PMC4445755.md","variant_annotation_id":1452046220,"variant_haplotypes":"SLC6A4 L allele-rs25531C, SLC6A4 L allele-rs25531T","gene":"SLC6A4","drugs":"milnacipran","pmid":25710119,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR + rs25531 was not associated with significant differences in HAMD score change at week 6 in patients receiving milnacipran. LA allele vs S/S (S=LG)","sentence":"SLC6A4 L allele-rs25531T is not associated with response to milnacipran in people with Depressive Disorder, Major as compared to SLC6A4 L allele-rs25531C/L allele-rs25531C.","alleles":"L allele-rs25531T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"L allele-rs25531C/L allele-rs25531C","comparison_metabolizer_types":null} -{"pmcid":"PMC11111788","article_title":"CYP2C19 and CYP2J2 genotypes predict praziquantel plasma exposure among Ethiopian school-aged children","article_path":"articles/PMC11111788.md","variant_annotation_id":1452484760,"variant_haplotypes":"rs890293","gene":"CYP2J2","drugs":"trans 4-hydroxypraziquantel","pmid":38778126,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Our study also found a borderline association between CYP2J2 genotype (p\u2009=\u20090.05) and PZQ plasma concentration, where higher PZQ plasma concentrations were observed among CYP2J2 *1/*1 genotypes compared to CYP2J2 *7 carriers. CYP2J2 genotype was significantly associated with both trans-4-OH-PZQ/PZQ and cis 4-OH-PZQ/PZQ) the metabolic ratios, being higher among CYP2J2 *7 carriers than the wild type (CYP2J2 *1/*1). The CYP2J2 *7 variant allele is reported to be associated with increased enzyme activity, which is in line with our findings.\" *7 mapped to rs890293A.","sentence":"Genotypes AA + AC is associated with increased concentrations of trans 4-hydroxypraziquantel in children with Schistosomiasis as compared to genotype CC.","alleles":"AA + AC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Schistosomiasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10377184","article_title":"DRD2, DRD3, and HTR2A Single-Nucleotide Polymorphisms Involvement in High Treatment Resistance to Atypical Antipsychotic Drugs","article_path":"articles/PMC10377184.md","variant_annotation_id":1452198683,"variant_haplotypes":"rs6280","gene":"DRD3","drugs":"antipsychotics","pmid":37509727,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The DRD3 rs6280 C|T vs. C|C genotype (OR = 22.195; B = 3.1; p = 0.002) and the T|T vs C|C genotype (OR = 18.47; B = 2.916; p = 0.003) significantly predicted the HTR group membership. In addition, the DRD3 rs6280 C|C vs. T|T genotype inversely predicted the HTR group membership (OR = 0.054; B = \u22122.916; p = 0.003).\" \" high treatment resistance (HTR) group (current treatment with two SGAs, or clozapine, or classic neuroleptics for a failure of previous SGAs trials\"","sentence":"Genotypes CT + TT is associated with increased resistance to antipsychotics in people with Mood Disorders or Schizophrenia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mood Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479778,"variant_haplotypes":"rs1492899","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171074,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of methadone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4137828","article_title":"Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients","article_path":"articles/PMC4137828.md","variant_annotation_id":1184470893,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":24528196,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"3 - 12 months post-transplant. Patients with the *3/*3 genotype had statistically significantly increased trough concentrations (using chi-squared analysis) and dose-adjusted trough concentrations (using multivariate linear regression) of tacrolimus as compared to patients with the *1/*1 or *1/*3 genotype.","sentence":"CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3622803","article_title":"Genetic Variation in BDNF is Associated with Antipsychotic Treatment Resistance in Patients with Schizophrenia","article_path":"articles/PMC3622803.md","variant_annotation_id":1183697770,"variant_haplotypes":"rs11030104","gene":"BDNF","drugs":"antipsychotics","pmid":23433505,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele is associated with increased odds of resistance to antipsychotic treatment. Resistance was assessed by whether patients were taking clozapine, since clozapine is indicated for patients poorly responsive or resistant to first-line treatments. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG is associated with increased resistance to antipsychotics in people with Schizophrenia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452437107,"variant_haplotypes":"rs10032941","gene":"C1QTNF7","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6E-7.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4931969","article_title":"Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment","article_path":"articles/PMC4931969.md","variant_annotation_id":1447680645,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"corticosteroids, Leukotriene receptor antagonists","pmid":26774659,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to corticosteroids and Leukotriene receptor antagonists in children with Asthma as compared to genotype GG.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821451,"variant_haplotypes":"rs1718125","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11059713","article_title":"Therapeutic efficacy of generic artemether\u2013lumefantrine in the treatment of uncomplicated malaria in Ghana: assessing anti-malarial efficacy amidst pharmacogenetic variations","article_path":"articles/PMC11059713.md","variant_annotation_id":1452466260,"variant_haplotypes":"CYP2B6*1, CYP2B6*6, CYP2B6*18","gene":"CYP2B6","drugs":"desbutyl lumefantrine, lumefantrine","pmid":38685044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"Plasma lumefantrine and DBL in relation to CYP2B6 is shown in Fig. 4. No significant difference was observed between normal expressor (*1/*1) and reduced expressors. However, it was observed that the median plasma concentration for normal expressor *1/*1 was relatively higher for day 7 plasma lumefantrine and desbutyl lumefantrine in comparison to reduced expressors.\"","sentence":"CYP2B6 *1/*18 + *1/*6 + *6/*6 + *18/*18 is not associated with decreased concentrations of desbutyl lumefantrine or lumefantrine in people with Malaria, Falciparum as compared to CYP2B6 *1/*1.","alleles":"*1/*18 + *1/*6 + *6/*6 + *18/*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Malaria, Falciparum","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5808057","article_title":"No major role of norepinephrine transporter gene variations in the cardiostimulant effects of MDMA","article_path":"articles/PMC5808057.md","variant_annotation_id":1449160191,"variant_haplotypes":"rs168924","gene":"SLC6A2","drugs":"3,4-methylenedioxymethamphetamine","pmid":29198060,"phenotype_category":"Other","significance":"no","notes":null,"sentence":"Allele G is not associated with response to 3,4-methylenedioxymethamphetamine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388213,"variant_haplotypes":"rs1883322","gene":"PPARD","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper, dbSNP changed designation of this allele from G/A to C/T at build 132)","sentence":"Allele C is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4271081","article_title":"DPYD Variants as Predictors of 5-fluorouracil Toxicity in Adjuvant Colon Cancer Treatment (NCCTG N0147)","article_path":"articles/PMC4271081.md","variant_annotation_id":1450951310,"variant_haplotypes":"rs3918290","gene":"DPYD","drugs":"fluorouracil","pmid":25381393,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was not associated with disease-free survival time. Allele referred to in the paper as the DPYD*2A allele.","sentence":"Genotype CT is not associated with response to fluorouracil in people with Colonic Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colonic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4706412","article_title":"A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics","article_path":"articles/PMC4706412.md","variant_annotation_id":1447682700,"variant_haplotypes":"CYP4F2*1, CYP4F2*3","gene":"CYP4F2","drugs":"warfarin","pmid":26745506,"phenotype_category":"Dosage","significance":"yes","notes":"The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: the derivation cohort was 99% male.","sentence":"CYP4F2 *3 is associated with increased dose of warfarin as compared to CYP4F2 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3148255","article_title":"Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation","article_path":"articles/PMC3148255.md","variant_annotation_id":981755665,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":21083385,"phenotype_category":"Efficacy","significance":"not stated","notes":"Clinical trials were carried out to test efficacy of ivacaftor selecting only patients with the CFTR G551D mutation on at least one allele (genotype AA or AG).","sentence":"Genotypes AA + AG are associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11528939","article_title":"Unidentified CYP2D6 genotype does not affect pharmacological treatment for patients with first episode psychosis","article_path":"articles/PMC11528939.md","variant_annotation_id":1452627002,"variant_haplotypes":"CYP2D6 normal metabolizer","gene":"CYP2D6","drugs":"clozapine","pmid":39344086,"phenotype_category":"Dosage","significance":"yes","notes":"\"CYP2D6 phenotype was significant for prediction of clozapine, and related to higher dose at NM versus IM, and IM versus PM groups. This model predicted PMs to be administered the lowest chlorpromazine-equivalent dose of clozapine.\"","sentence":"CYP2D6 normal metabolizer is associated with increased dose of clozapine in people with Schizophrenia or Psychotic Disorder as compared to CYP2D6 intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755919,"variant_haplotypes":"rs4788186","gene":"LRP1","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995748,"variant_haplotypes":"rs2445365","gene":"ANGPT1","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994437,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.; Allele also known as CYP3A4*22.","sentence":"Allele A is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3555061","article_title":"Impact of the CYP2C8 *3 polymorphism on the drug\u2013drug interaction between gemfibrozil and pioglitazone","article_path":"articles/PMC3555061.md","variant_annotation_id":1449713428,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"pioglitazone","pmid":22625877,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC0-inf and AUC0-48h","sentence":"CYP2C8 *1/*1 is associated with increased concentrations of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4803610","article_title":"Race-specific influence of CYP4F2 on dose and risk of hemorrhage among warfarin users","article_path":"articles/PMC4803610.md","variant_annotation_id":1447952609,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":26877068,"phenotype_category":"Dosage","significance":"yes","notes":"in European americans, but not African americans.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470283,"variant_haplotypes":"rs4253728","gene":"PPARA","drugs":"cyclosporine","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"no","notes":"A single steady-state concentration of cyclosporin was collected for each patient 2-7 wks post-transplant and compared to dose of cyclosporin administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of cyclosporin. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Genotype AA is not associated with metabolism of cyclosporine in people with Kidney Transplantation as compared to allele G.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1451159800,"variant_haplotypes":"rs67624739","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy. Variant is reported as rs3841324 in the paper and also given the alias rs67624739.","sentence":"Allele del is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele CAGAGGGAAATAGGGGCGGGGC.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CAGAGGGAAATAGGGGCGGGGC","comparison_metabolizer_types":null} -{"pmcid":"PMC2853591","article_title":"CYP3A4 and CYP3A5 Polymorphisms and Blood Pressure Response to Amlodipine among African-American Men and Women with Early Hypertensive Renal Disease","article_path":"articles/PMC2853591.md","variant_annotation_id":769169820,"variant_haplotypes":"rs2246709","gene":"CYP3A4","drugs":"amlodipine","pmid":19907160,"phenotype_category":"Efficacy","significance":"yes","notes":"People who were carriers for the G allele were more likely to reach the target mean arterial pressure of <= 92 mm Hg when treated with amlodipine compared to AA homozygotes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are associated with increased response to amlodipine in people with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188656,"variant_haplotypes":"rs4793665","gene":"ABCC3","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations refers to area under the concentration time curive (0-48hrs)","sentence":"Allele C is associated with decreased concentrations of methotrexate in children with Osteosarcoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874440,"variant_haplotypes":"rs202102799","gene":"CYP2D6","drugs":"clozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In the model adjusted for clinical predictors of clozapine concentration, including smoking status and cumulative dose of clozapine, five SNPs (rs28371726 and rs202102799 in CYP2D6; rs4148323 and rs34946978 in UGT1A1; and rs2011404 in UGT1A4) showed significant associations with clozapine concentration. The rs number for each SNP associated with clozapine concentration is shown in Table 3.\" Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and decreased concentration (beta value in table is negative).","sentence":"Allele C is associated with decreased concentrations of clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5293674","article_title":"A prospective study of genetic factors, human laboratory phenotypes, and heavy drinking in late adolescence","article_path":"articles/PMC5293674.md","variant_annotation_id":1450824016,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":27046326,"phenotype_category":"Other","significance":"yes","notes":"In a session of alcohol self-administration, subjects with the AG or GG genotypes had a greater initial increase in breath alcohol content (BrAC), faster BrAC increases over time and a smaller decline in BrAC at the end of the session. AG or GG subjects also reported engaging in heavy drinking more frequently than AA subjects.","sentence":"Genotypes AG + GG are associated with increased exposure to ethanol as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3910794","article_title":"Pharmacometric Characterization of Efavirenz Developmental Pharmacokinetics and Pharmacogenetics in HIV-Infected Children","article_path":"articles/PMC3910794.md","variant_annotation_id":1184233704,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"efavirenz","pmid":24145522,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This SNP did not influence oral clearance or apparent volume of distribution. Variant was described as MDR1-1 C3435T. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with clearance of efavirenz in children with HIV Infections.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11049954","article_title":"Association of CYP3A4-392A/G, CYP3A5-6986A/G, and ABCB1-3435C/T Polymorphisms with Tacrolimus Dose, Serum Concentration, and Biochemical Parameters in Mexican Patients with Kidney Transplant","article_path":"articles/PMC11049954.md","variant_annotation_id":1452457647,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":38674430,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented.","sentence":"Allele A is not associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636667,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes AG + GG are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4641035","article_title":"Efficacy and safety of ivacaftor treatment: randomized trial in subjects with cystic fibrosis who have an R117H-CFTR mutation","article_path":"articles/PMC4641035.md","variant_annotation_id":1447984897,"variant_haplotypes":"rs78655421","gene":"CFTR","drugs":"ivacaftor","pmid":26070913,"phenotype_category":"Efficacy","significance":"yes","notes":"24-week, placebo-controlled, double-blind, randomised clinical trial. Patients had the R117H variant and percentage of predicted forced expiratory volume in 1s (% predicted FEV1) of at least 40. Patients received either placebo or ivacaftor 150 mg every 12 hours for 24 weeks (1:1). The treatment difference in mean absolute change in % predicted FEV1 was 2.1 percentage points (p=0.2). But there were significant treatment differences in sweat chloride (-24.0 mmol/L, p<0.0001) and CFQ-R respiratory domain (8.4 points, p=0.009). In subgroup analyses, % predicted FEV1 improved in patients age 18 or older (p=0.01) but not 6-11 years old (favoring placebo, p=0.03). Patients' poly-T status was either 5T or 7T, and significant results for sweat chloride were seen for both types of poly-T status (p<0.0001 and p=0.0003, respectively)","sentence":"Genotypes AA + AG is associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133746,"variant_haplotypes":"rs7997012","gene":"HTR2A","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in improvement in pain scores between genotype groups.","sentence":"Allele G is not associated with response to morphine and nortriptyline in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4855508","article_title":"Acute administration of ivacaftor to people with cystic fibrosis and a G551D-CFTR mutation reveals smooth muscle abnormalities","article_path":"articles/PMC4855508.md","variant_annotation_id":1448099051,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":27158673,"phenotype_category":"Efficacy","significance":"yes","notes":"Measured in adult patients, with changes in lung volume, sweat chloride, distensibility, wall thickness, expiratory lumen area, and inspiratory lumen area measured before starting ivacaftor and 48 hour after starting ivacaftor.","sentence":"Genotypes AA + AG are associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512552,"variant_haplotypes":"rs2502815","gene":"NR1I3","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the AA, AG, GG genotypes of this SNP.","sentence":"Genotype AA is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756005,"variant_haplotypes":"rs461872","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815036,"variant_haplotypes":"rs10170310","gene":"SPOPL","drugs":"olanzapine","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of G alleles present in a patient was positively associated with PGI score.","sentence":"Allele C is associated with decreased response to olanzapine in people with Schizophrenia as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6475679","article_title":"Evaluating metronidazole as a novel, safe CYP2A6 phenotyping probe in healthy adults","article_path":"articles/PMC6475679.md","variant_annotation_id":1451162940,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*9, CYP2A6*17","gene":"CYP2A6","drugs":"nicotine","pmid":30706508,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Metabolite ratios for nicotine were significantly reduced in reduced metabolizers compared to normal metabolizers. Subjects were genotyped for the *2, *4, *7, *9, *12, *17, *20, *23-*28, *31 and *35 alleles, although no details of rsIDs are given. No participants were found to have the *7 allele, so no testing for the *8 or *10 alleles was carried out.","sentence":"CYP2A6 *1/*2 + *1/*9 + *1/*17 (assigned as reduced metabolizers phenotype) are associated with decreased metabolism of nicotine in healthy individuals as compared to CYP2A6 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*9 + *1/*17","specialty_population":null,"metabolizer_types":"reduced metabolizers","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114826,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and AUC0-12 of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as C3435T.","sentence":"Allele A is not associated with exposure to lopinavir or ritonavir in children with HIV Infections as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2928561","article_title":"A polymorphism in the VKORC1-regulator calumenin predicts higher warfarin doses in African-Americans","article_path":"articles/PMC2928561.md","variant_annotation_id":637879873,"variant_haplotypes":"rs339097","gene":"CALU","drugs":"warfarin","pmid":20200517,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with increased dose of warfarin.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC1754569","article_title":"Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis","article_path":"articles/PMC1754569.md","variant_annotation_id":1444668195,"variant_haplotypes":"rs1800896","gene":"IL10","drugs":"etanercept","pmid":12759288,"phenotype_category":"Efficacy","significance":"yes","notes":"When this genotype is combined with the rs1800629 GG genotype. Those with the CC-GG combination genotype were more likely to be responders to treatment, as compared to those with any other combination of genotypes. However, no significant difference in genotype frequencies was seen between responders and non-responders when considering the rs1800629 or 1800896 SNPs alone. Responders defined using the American College of Rheumatology (ACR) response criteria and response criteria based on the modified disease activity score (DAS)28 index. Non-responders failed to fulfill both these criteria.","sentence":"Genotype CC is associated with increased response to etanercept in people with Arthritis, Rheumatoid as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3244642","article_title":"Dosing equation for tacrolimus using genetic variants and clinical factors","article_path":"articles/PMC3244642.md","variant_annotation_id":1184514826,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21671989,"phenotype_category":"Dosage","significance":"not stated","notes":"Patients carrying different CYP3A5 genotypes had tacrolimus dose requirement in the order of: CYP3A5*1/*1>CYP3A5*1/*3>CYP3A5*3/*3 at 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22 and 24 week post-transplantation.","sentence":"Allele T is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4537319","article_title":"Genetic Variation (CHRNA5), Medication (Combination Nicotine Replacement Therapy vs. Varenicline) and Smoking Cessation","article_path":"articles/PMC4537319.md","variant_annotation_id":1450822293,"variant_haplotypes":"rs16969968","gene":"CHRNA3, CHRNA5","drugs":"varenicline","pmid":26142345,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in abstinence rates between placebo and varenicline treatment groups.","sentence":"Allele G is not associated with response to varenicline in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6038204","article_title":"Genotype-guided versus traditional clinical dosing of warfarin in patients of Asian ancestry: a randomized controlled trial","article_path":"articles/PMC6038204.md","variant_annotation_id":1449577814,"variant_haplotypes":"rs7196161","gene":"VKORC1","drugs":"warfarin","pmid":29986700,"phenotype_category":"Dosage","significance":"not stated","notes":"used in a study comparing genotype-guided dosing vs conventional for warfarin initiation. Alleles complemented to plus chromosomal strand. Direction of effect not explicitly stated.","sentence":"Allele A is associated with dose of warfarin in people with Atrial Fibrillation, Pulmonary Embolism, Stroke and Venous Thrombosis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Pulmonary Embolism, Disease:Stroke, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433467,"variant_haplotypes":"rs12979813","gene":"DOCK6","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele G is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163533,"variant_haplotypes":"rs4646450","gene":"CYP3A5","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this was one of the variants that passed validation in both populations. Direction of effect was not stated.","sentence":"Allele A is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4298011","article_title":"Adrenergic receptor genotype influences heart failure severity and \u03b2-blocker response in children with dilated cardiomyopathy","article_path":"articles/PMC4298011.md","variant_annotation_id":1451544792,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"Beta Blocking Agents","pmid":25406899,"phenotype_category":"Efficacy","significance":"yes","notes":"Study looked at effect of 'high-risk' genotypes (i.e. genotypes of one or more of rs61767072 del, rs1801253 C or rs1042713 A alleles) on response to beta-blockers. Patients with more 'high-risk' alleles showed a greater response to beta-blockers than those with fewer 'high-risk' alleles.","sentence":"Allele A is associated with increased response to Beta Blocking Agents in children with Cardiomyopathy, Dilated as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Cardiomyopathy, Dilated","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4498287","article_title":"Screening for UGT1A1 Genotype in Study A5257 Would Have Markedly Reduced Premature Discontinuation of Atazanavir for Hyperbilirubinemia","article_path":"articles/PMC4498287.md","variant_annotation_id":1445296945,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"atazanavir","pmid":26180834,"phenotype_category":"Toxicity","significance":"yes","notes":"Atazanavir + ritonavir (atazanavir/r). The TT genotype was associated with a greater cumulative incidence of bilirubin-associated discontinuation of atazanavir in White, Black and Hispanic participants, as well as all participants combined, as compared to the CC or CT genotype. Bilirubin-related events defined as those due to jaundice, elevated bilirubin or hyperpigmentation. Authors suggest that the high rate of discontinuation among White participants in particular may be due to differences in physical manifestations of jaundice.","sentence":"Genotype TT is associated with increased discontinuation of atazanavir in people with HIV Infections as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672740,"variant_haplotypes":"rs111869995","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113880,"variant_haplotypes":"rs648893","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161493,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"methadone","pmid":21589866,"phenotype_category":"Dosage","significance":"no","notes":"This association was not significant. No details about which specific variants/alleles were tested for, however the authors state that genotyping of *1/*6 individuals did not exclude the possibility of them actually being *4/*9.","sentence":"CYP2B6 *6/*6 is associated with decreased dose of methadone in people with Opioid-Related Disorders as compared to CYP2B6 *1/*1.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811587,"variant_haplotypes":"rs2520464","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Genotypes were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Genotype TT is not associated with dose of methadone in people with Heroin Dependence as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5614982","article_title":"Impact of Gastric H+/K+-ATPase rs2733743 on the Intragastric pH-Values of Dexlansoprazole Injection in Chinese Subjects","article_path":"articles/PMC5614982.md","variant_annotation_id":1451136960,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"dexlansoprazole","pmid":29018343,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2C19*2 (rs4244285), CYP2C19*3 (rs4986893), CYP2C19*17 (rs12248560) were genotyped but only *2 and *3 were identified. CYP2C19 PMs presented a slower elimination and higher exposure (Cmax and AUCPK) compared to CYP2C19 homEMs, while the elimination and exposure of CYP2C19 hetEMs were intermediate between that of PMs and homEMs. In the 30 mg group, CYP2C19 PMs exhibit significantly higher Cmax, AUCPK, and t1/2 than homEMs and presented remarkably higher AUCPK and t1/2 than those of CYP2C19 hetEMs. CYP2C19 hetEMs shows a significantly higher Cmax and AUCPK compared to CYP2C19 homEMs.","sentence":"CYP2C19 *2/*2 is associated with decreased metabolism of dexlansoprazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166044,"variant_haplotypes":"rs2886059","gene":"ALDH1L1","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3637851","article_title":"A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer","article_path":"articles/PMC3637851.md","variant_annotation_id":982046747,"variant_haplotypes":"rs2762939","gene":"CYP24A1","drugs":"calcitriol, cisplatin, docetaxel","pmid":23435876,"phenotype_category":"Efficacy","significance":"no","notes":"The GG genotype was correlated with stable disease and partial response.","sentence":"Genotype GG is associated with increased response to calcitriol, cisplatin and docetaxel in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566630,"variant_haplotypes":"rs2276332","gene":"ADH1A","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6501809","article_title":"Pharmacokinetic-Pharmacodynamic interaction associated with venlafaxine-XR remission in patients with major depressive disorder with history of citalopram / escitalopram treatment failure","article_path":"articles/PMC6501809.md","variant_annotation_id":1452046240,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"duloxetine","pmid":30578947,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in remission (QIDS-C16) in patients receiving duloxetine (duloxetine after SSRI failure).","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to duloxetine in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":699638971,"variant_haplotypes":"rs4148950","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper)","sentence":"Allele A is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5438821","article_title":"Sex Differences in the Blood Concentration of Tacrolimus in Systemic Lupus Erythematosus and Rheumatoid Arthritis Patients with CYP3A5*3/*3","article_path":"articles/PMC5438821.md","variant_annotation_id":1448612320,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":28324194,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The dose-adjusted concentration of tacrolimus was significantly higher in patients with the *3/*3 genotype as compared to those with the *1/*1 or *1/*3 genotypes. The authors note that within those with the *3/*3 genotype, tacrolimus concentration was higher in men than woman (p<0.05) and higher in women over 50 than women under 50 (p<0.05).","sentence":"CYP3A5 *3/*3 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Arthritis, Rheumatoid or Lupus Erythematosus, Systemic as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis, Disease:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823698,"variant_haplotypes":"rs28371706","gene":"CYP2D6","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"This association was not observed in adults, only in children. The A allele was referred to as CYP2D6*17 in this study. This variant was not a significant factor in a multiple regression model for determining nevirapine AUC but age was. [stat_test: linear regression]","sentence":"Genotypes AA + AG are associated with decreased clearance of nevirapine in children with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157257,"variant_haplotypes":"rs529520","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9891445","article_title":"Effects of genetic polymorphisms on methotrexate levels and toxicity in Chinese patients with acute lymphoblastic leukemia","article_path":"articles/PMC9891445.md","variant_annotation_id":1452009018,"variant_haplotypes":"rs1801394","gene":"MTRR","drugs":"methotrexate","pmid":36742186,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"at 48 hours.","sentence":"Genotypes AG + GG is associated with increased concentrations of methotrexate in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6411020","article_title":"Genetic Polymorphisms in Aquaporin 1 as Risk Factors for Malignant Mesothelioma and Biomarkers of Response to Cisplatin Treatment","article_path":"articles/PMC6411020.md","variant_annotation_id":1450936468,"variant_haplotypes":"rs1049305","gene":"AQP1","drugs":"cisplatin","pmid":30840592,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between genotype and progress-free survival, overall survival or chemotherapy response in patients with malignant mesothelioma who were treated with cisplatin-based chemotherapy.","sentence":"Genotypes CC + CG are not associated with response to cisplatin in people with Mesothelioma as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mesothelioma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4731723","article_title":"TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis","article_path":"articles/PMC4731723.md","variant_annotation_id":1447982629,"variant_haplotypes":"rs3750920","gene":"TOLLIP","drugs":"acetylcysteine","pmid":26331942,"phenotype_category":"Efficacy","significance":"yes","notes":"Clinical endpoints included death, transplant, hospitalization, or FVC decline, and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center.","sentence":"Genotype TT is associated with increased response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pulmonary Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4867099","article_title":"Pharmacogenetics of unboosted atazanavir in HIV-infected individuals in resource-limited settings: a sub-study of the AIDS Clinical Trials Group (ACTG) PEARLS study (NWCS 342)","article_path":"articles/PMC4867099.md","variant_annotation_id":1447947654,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"atazanavir","pmid":26892777,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Looked at CL/F, Concentration at 24 hours, ratios of metabolites 1 and 2 to atazanavir.","sentence":"Genotype GG (assigned as deficiency phenotype) is not associated with concentrations of atazanavir in people with HIV Infections as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238789,"variant_haplotypes":"rs1546519","gene":"LYN","drugs":"ziprasidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: reported allele was C, this has been complemented to the plus chromosomal strand. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to ziprasidone in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9306465","article_title":"Clinic and genetic predictors in response to erenumab","article_path":"articles/PMC9306465.md","variant_annotation_id":1452311665,"variant_haplotypes":"rs7590387","gene":"RAMP1","drugs":"erenumab","pmid":34965002,"phenotype_category":"Efficacy","significance":"no","notes":"\"RAMP1 rs7590387 was found to confer a lower probability of being 75\u2010RESP compared to the rs7590387C allele (for each G allele, OR [95% CI]: 0.53 [0.29\u20130.99], p = 0.048, Table 4). However, the nominal association of RAMP1 rs7590387 with 75\u2010RESP was lost after adjustments for clinical confounders (OR [95% CI] 0.55 [0.28\u20131.10], p = 0.09, Table 4)\" 75-RESP is a 75% reduction in monthly migraine days after 3 months treatment.","sentence":"Allele G is associated with decreased clinical benefit to erenumab in people with Migraine NOS as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472412,"variant_haplotypes":"rs11676382","gene":"GGCX","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele C is not associated with dose of warfarin as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896054,"variant_haplotypes":"rs11811628","gene":"ATF3","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634284,"variant_haplotypes":"rs17010902","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"Significance was not attained. Observations: 7.35 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA, 1.28 mm Hg decreased reduction of systolic blood pressure per A allele in NORDIL, and 4.34 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele A is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3786570","article_title":"Response to citalopram is not associated with SLC6A4 genotype in African-Americans and Caucasians with major depression","article_path":"articles/PMC3786570.md","variant_annotation_id":1452053606,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"citalopram","pmid":23562852,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in response (HAMD) in patients receiving citalopram.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to citalopram in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":1450980680,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"With *1/*2 (AG) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA\"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs9923231, rs2884737, rs9934438, and rs8050894 to define HaplotypeA.","sentence":"Genotype AA is associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC539815","article_title":"TBX21: A functional variant predicts improvement in asthma with the use of inhaled corticosteroids","article_path":"articles/PMC539815.md","variant_annotation_id":981477503,"variant_haplotypes":"rs2240017","gene":"TBX21","drugs":"corticosteroids","pmid":15604153,"phenotype_category":"Efficacy","significance":"yes","notes":"There were no GG individuals.","sentence":"Genotype CG is associated with increased response to corticosteroids in children with Asthma as compared to genotype CC.","alleles":"CG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1451216520,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":"described as Met420Del in paper.","sentence":"Allele del is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele GAT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT","comparison_metabolizer_types":null} -{"pmcid":"PMC8513493","article_title":"Genome wide association study identifies the common variants in CYP3A4 and CYP3A5 responsible for variation in tacrolimus trough concentration in Caucasian kidney transplant recipients","article_path":"articles/PMC8513493.md","variant_annotation_id":1449171296,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tacrolimus","pmid":29160300,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"GWAS in patients with two CYP3A5 loss-of-function alleles. Loss-of-function alleles were *3, *6, or *7. Genotype composition in the population was 1342 with *3/*3, 2 with *3/*6 and 1 with *3/*7. The association of the variant with TAC concentration was significant in the GWAS analysis P=2.21E-17. The distribution of the dose-normalized TAC concentration for all three genotypes is shown in Supplementary Figure S2 with the AA (*22/*22) and AG (*1/*22) genotypes having higher dose-adjusted concentrations as compared to the GG (*1/*1) genotype. However, no statistical analysis was preformed with regards to the individual genotypes.","sentence":"Allele A is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3358293","article_title":"Therapeutic Dosing of Acenocoumarol: Proposal of a Population Specific Pharmacogenetic Dosing Algorithm and Its Validation in North Indians","article_path":"articles/PMC3358293.md","variant_annotation_id":981954438,"variant_haplotypes":"CYP2C9*1","gene":"CYP2C9","drugs":"acenocoumarol","pmid":22629463,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference was seen between the daily dose for CYP2C9 wildtype patients and the daily dose for CYP2C9 variant carriers. This study provides an algorithm for predicting the maintenance dose of acenocoumarol using genotypes as well as clinical factors as predictive variables.","sentence":"CYP2C9 *1 is not associated with increased dose of acenocoumarol as compared to CYP2C9 *2 + *3.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2 + *3","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359432,"variant_haplotypes":"rs6356","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of heroin in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4972156","article_title":"Pharmacokinetics of lamotrigine and its metabolite N\u20102\u2010glucuronide: Influence of polymorphism of UDP\u2010glucuronosyltransferases and drug transporters","article_path":"articles/PMC4972156.md","variant_annotation_id":1447983614,"variant_haplotypes":"rs628031","gene":"SLC22A1","drugs":"lamotrigine","pmid":27096250,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was conducted in 100 patients -- 54 receiving monotherapy for lamotrigine, and 46 receiving combination therapy with carbamazepine, oxcarbazepine, valproic acid, phenytoin, phenobarbital, levetiracetam, topiramate, lacosamide, zonisamide, pregabalin, clonazepam, or clobazam. All patients were on stable therapy for at least 2 months.","sentence":"Genotype GG is associated with increased dose of lamotrigine in people with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705115,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Hepatitis C, HIV Infections and HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC11531276","article_title":"Pharmacogenomic Study of Selected Genes Affecting Amlodipine Blood Pressure Response in Patients with Hypertension","article_path":"articles/PMC11531276.md","variant_annotation_id":1452697440,"variant_haplotypes":"rs312481","gene":"CACNA1D","drugs":"amlodipine","pmid":39492848,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Individuals with the GG genotype demonstrated a significant independent reduction in blood pressure (unadjusted odds ratio (95% CI)=2.91(1.34\u20134.97), p=0.021). After adjusting for confounding variables, the association between SNP rs312481 and blood pressure regulation by amlodipine remained consistent (adjusted odds ratio (95% CI)= 2.01 (1.12\u20135.01), P=0.024). \"","sentence":"Genotype GG is associated with increased clinical benefit to amlodipine in people with Hypertension as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680752,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele G is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930607,"variant_haplotypes":"rs3743077","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5449482","article_title":"Effect of Genetic Variability in the CYP4F2, CYP4F11, and CYP4F12 Genes on Liver mRNA Levels and Warfarin Response","article_path":"articles/PMC5449482.md","variant_annotation_id":1448633915,"variant_haplotypes":"rs1060467","gene":"CYP4F11","drugs":"warfarin","pmid":28620303,"phenotype_category":"Dosage","significance":"yes","notes":"The G allele was associated with a decrease in stable warfarin dose and accounted for 2.6% of the variance. AA= 4.6 \u00b1 0.2, AG = 3.9 \u00b1 0.1 GG = 3.8 \u00b1 0.2. The addition of rs1060467 to PGx algorithm (included CYP2C9, VKORC1) explained a further 0.5\u20130.7% of variability. When conditioned on rs1060467, the association w/ rs2108622 & warfarin dose decreased (beta initial = 0.078, beta conditional = 0.063, initial P-value = 0.003, conditional P-value = 0.05). Alleles have been complemented to the positive strand.","sentence":"Allele G is associated with decreased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170850,"variant_haplotypes":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A5","drugs":"endoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of endoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864550,"variant_haplotypes":"rs339097","gene":"CALU","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"no","notes":"A p value of 0.04 was given for dose- genotype association, but the authors stated that this association did not reach significanc in multiple regression testing (p = 0.066), and that was likely due to insufficient power.Variant allele carriers required 14.1 mg/week more warfarin than AA.","sentence":"Genotypes AG + GG are associated with increased dose of warfarin as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863356,"variant_haplotypes":"rs1979277","gene":"SHMT1","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9582748","article_title":"Effects of CYP2C19 genetic polymorphisms on the cure rates of H. pylori in patients treated with the proton pump inhibitors: An updated meta-analysis","article_path":"articles/PMC9582748.md","variant_annotation_id":1451926980,"variant_haplotypes":"CYP2C19 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C19","drugs":"Proton pump inhibitors","pmid":36278195,"phenotype_category":"Efficacy","significance":"yes","notes":"in meta-analysis of cure rates of H. pylori in triple therapy.","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with increased clinical benefit to Proton pump inhibitors in people with Helicobacter Infections as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983318,"variant_haplotypes":"rs16873129","gene":"RAPGEF5","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (C). Response considered to be successful with a 50% reduction at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele C is associated with decreased response to antidepressants in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448522373,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"UGT1A1 *28/*28 is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1 + *1/*28.","alleles":"*28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*28","comparison_metabolizer_types":null} -{"pmcid":"PMC3946972","article_title":"Pharmacotherapy Effects on Smoking Cessation Vary with Nicotine Metabolism Gene (CYP2A6)","article_path":"articles/PMC3946972.md","variant_annotation_id":1450820537,"variant_haplotypes":"CYP2A6 high activity","gene":"CYP2A6","drugs":"bupropion","pmid":24033696,"phenotype_category":"Efficacy","significance":"no","notes":"Patients with a predicted CYP2A6 \"fast metabolizer\" or \"slow metabolizer\" phenotype were equally likely to respond to bupropion as smoking cessation treatment.","sentence":"CYP2A6 high activity is not associated with response to bupropion in people with Tobacco Use Disorder as compared to CYP2A6 low activity.","alleles":null,"specialty_population":null,"metabolizer_types":"high activity","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"low activity"} -{"pmcid":"PMC5505550","article_title":"Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9","article_path":"articles/PMC5505550.md","variant_annotation_id":1448820078,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"piroxicam","pmid":28740425,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.","sentence":"Allele T is not associated with response to piroxicam as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11717999","article_title":"Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations","article_path":"articles/PMC11717999.md","variant_annotation_id":1452808185,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"aripiprazole, dehydroaripiprazole","pmid":39789135,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Regarding ARI/DHA ratio, significant differences between the different variants were observed in the three SNPs analyzed. Specifically, for C3434T it was obtained an ARI/DHA ratio 37.4% higher for CC (2.35) compared to the TT variant (1.71), for G2677T 93% higher for GG (3.27) vs TT (1.69) and for C1236T 64.2% higher for CC (2.93) vs TT (1.78) (Fig. 1A). Comparing Non-T carriers vs. T carriers variants as a whole, yielded 22.3%, 70.07% and 47.43% more respectively, maintaining statistical significance (Fig. 1B).\" \"For ABCB1, the following variants were analyzed: C3435T (rs1045642), C2677 T/A (rs2032582) and C1236T (rs1128503).\"","sentence":"Genotype GG is associated with increased concentrations of aripiprazole and dehydroaripiprazole as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566660,"variant_haplotypes":"rs17033","gene":"ADH1B","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4087845","article_title":"Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans","article_path":"articles/PMC4087845.md","variant_annotation_id":1183622290,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":16937451,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in area under the concentration-time curve (AUC) for rabeprazole were seen between the two genotype groups. Subjects were given rabeprazole for 8 days; AUC was measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 and *3 alleles were referred to by their previous designations (CYP2C19*m1 and *m2, respectively).","sentence":"CYP2C19 *1/*1 is not associated with metabolism of rabeprazole in healthy individuals as compared to CYP2C19 *1/*2 + *1/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954014,"variant_haplotypes":"rs1982350","gene":"BMAL1","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451673020,"variant_haplotypes":"rs777098658","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6969041","article_title":"Impact of CYP2C19 genotype on sertraline exposure in 1200 Scandinavian patients","article_path":"articles/PMC6969041.md","variant_annotation_id":1450933318,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"sertraline","pmid":31649299,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared with the CYP2C19 NMs (*1/*1), the sertraline serum concentration was increased 1.38-fold (p < 0.001, 95% CI 1.26\u20131.50) in CYP2C19 IMs (carriers of one no function alleles in combination with either *17 or *1). A 1.47-fold (p < 0.001, 95% CI 1.35\u20131.60) higher concentration of N-desmethylsertraline was found in IMs. Compared with NMs, the N-desmethylsertraline-to-sertraline metabolic ratio was 1.14-fold higher ratio in IMs (p < 0.001, 95% CI 1.06\u20131.22). In CYP2C19 IMs, the OR for having one or more TDM measurements above the target concentration range of 250 nM was 1.97 (p = 0.064, CI: 1.21\u20133.21), compared to CYP2C19 NMs. Study identified *2, *3, and *4 as no function alleles but not reported specific diplotypes, the diplotypes in the annotations are used as a representation.","sentence":"CYP2C19 *1/*2 + *1/*3 (assigned as intermediate metabolizer phenotype) are associated with decreased metabolism of sertraline as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4490522","article_title":"Pharmacogenomics of Methotrexate Membrane Transport Pathway: Can Clinical Response to Methotrexate in Rheumatoid Arthritis Be Predicted?","article_path":"articles/PMC4490522.md","variant_annotation_id":1444843357,"variant_haplotypes":"rs246240","gene":"ABCC1","drugs":"methotrexate","pmid":26086825,"phenotype_category":"Efficacy","significance":"yes","notes":"ABCC1 rs246240 G carrier is associated with increased risk of non-response to methotrexate.","sentence":"Genotypes AG + GG are associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436540,"variant_haplotypes":"rs1751034","gene":"ABCC4","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Based on available allele frequency data, it is assumed that the paper compares the C and T alleles.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10565537","article_title":"Effects of CYP3A4 and CYP2C9 genotype on systemic anastrozole and fulvestrant concentrations in SWOG S0226","article_path":"articles/PMC10565537.md","variant_annotation_id":1452234400,"variant_haplotypes":"CYP2C9 intermediate metabolizer","gene":"CYP2C9","drugs":"anastrozole","pmid":37615099,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles measured included CYP2C9*2, CYP2C9*3 (or*18), CYP2C9*4, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*9, CYP2C9*10, CYP2C9*11, CYP2C9*12, CYP2C9*13, CYP2C9*15, CYP2C9*25 and CYP2C9*27. Alleles and phenotypes were modeled after CPIC. \"participants with low CYP2C9 activity had lower anastrozole concentrations and higher fulvestrant concentrations than participants with high CYP2C9 activity\"","sentence":"CYP2C9 intermediate metabolizer and poor metabolizer is associated with decreased concentrations of anastrozole in people with Breast Neoplasms and Neoplasm Metastasis as compared to CYP2C9 normal metabolizer and ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Breast Neoplasms, Other:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} -{"pmcid":"PMC5727167","article_title":"Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population","article_path":"articles/PMC5727167.md","variant_annotation_id":1449157673,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":29234073,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793968,"variant_haplotypes":"rs4694362","gene":"DCK","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy","significance":"no","notes":"Tumor response to therapy and progression free survival did not significantly differ between genotype groups.","sentence":"Genotype TT is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2743299","article_title":"GENE AND GENE BY SEX ASSOCIATIONS WITH INITIAL SENSITIVITY TO NICOTINE IN NONSMOKERS","article_path":"articles/PMC2743299.md","variant_annotation_id":1450812316,"variant_haplotypes":"rs6277","gene":"DRD2","drugs":"nicotine","pmid":18690117,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Male subjects with the AA genotype had a higher perception score of \"feel the effects\" of nicotine with 5ug/kg nicotine, while male subjects with the AA or AG genotypes had higher \"feel the effects\" scores with 10ug/kg. Male subjects with the AA genotype had decreased fatigue and increased anger in the mood scoring compared to male subjects with the AG or GG genotypes. There was no significant association between this variant and physiological responses to nicotine, performance task responses or nicotine reinforcement.","sentence":"Allele A is associated with increased response to nicotine in men as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3641305","article_title":"NAT2 genotype guided regimen reduces isoniazid-induced liver injury and early treatment failure in the 6-month four-drug standard treatment of tuberculosis: A randomized controlled trial for pharmacogenetics-based therapy","article_path":"articles/PMC3641305.md","variant_annotation_id":981851641,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*14, NAT2*16, NAT2*19","gene":"NAT2","drugs":"isoniazid","pmid":23150149,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Originally annotated as \"compared to NAT2 *19 + *14A + *5D + *6B + *7A (assigned as slow acetylator phenotype)\". Patients were given an isoniazid dose based on NAT2 acetylator status or a standard dose. Slow acetylators (carriers of two variant alleles *19, *14, *5, *6, or *7) who had their dose adjusted had a reduced incidence of liver injury as compared to those who received a standard dose, and fast acetylators (*4/*4, either given standard dose or 1.5x standard dose) who had their dose adjusted had a reduced incidence of early treatment failure (at 8 weeks) as compared to those who received a standard dose.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. the alleles included in this annotation are mapped as following: NAT2*14A under the *14 core allele; NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *4/*4 (assigned as rapid acetylator phenotype) is associated with increased dose of isoniazid in people with Tuberculosis as compared to NAT2 *19 + *14 + *16 + *6 + *7 (assigned as slow acetylator phenotype) .","alleles":"*4/*4","specialty_population":null,"metabolizer_types":"rapid acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*19 + *14 + *16 + *6 + *7","comparison_metabolizer_types":"slow acetylator"} -{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133560,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype had a significantly greater improvement in pain scores compared to those with the AA or AG genotypes. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype GG is associated with increased response to morphine and nortriptyline in people with Pain as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC10337687","article_title":"Association Between Vitamin D Receptor Polymorphism and the Response to Helicobacter Pylori Treatment","article_path":"articles/PMC10337687.md","variant_annotation_id":1452156506,"variant_haplotypes":"rs7975232","gene":"VDR","drugs":"amoxicillin, clarithromycin, omeprazole","pmid":37449247,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with increased response to amoxicillin, clarithromycin and omeprazole in people with Helicobacter Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767259,"variant_haplotypes":"rs9293392","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794226,"variant_haplotypes":"rs324148","gene":"SLC29A1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype CC is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479768,"variant_haplotypes":"rs2859228","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827786978,"variant_haplotypes":"rs7972","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the most rapid clearance was observed for subjects having at least one \"wild-type\" allele (G for rs7975,G for rs7972, C for rs1046428. Rate was 2.2 +/- 0.7 vs 0.73 +/- 0.84 mL/min, and the very highest rate was seen in homozygous \"wild-type\".","sentence":"Allele G is associated with increased metabolism of dichloroacetic acid in healthy individuals.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375544,"variant_haplotypes":"rs77567654","gene":"GREM2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment. This SNP is in strong LD with rs1934341.","sentence":"Allele G is associated with increased response to allopurinol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4746878","article_title":"A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers","article_path":"articles/PMC4746878.md","variant_annotation_id":1451352866,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"atorvastatin","pmid":26857559,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CC + CT are associated with increased concentrations of atorvastatin in healthy individuals as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815030,"variant_haplotypes":"rs7395555","gene":null,"drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of C alleles present in a patient was negatively associated with CGI-S score.","sentence":"Allele C is associated with increased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680146,"variant_haplotypes":"rs116551936","gene":null,"drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype AG is associated with increased response to salbutamol in children with Asthma as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757028,"variant_haplotypes":"rs4986893","gene":"CYP2C19","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370798,"variant_haplotypes":"rs11676382","gene":"GGCX","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"Allele G is not associated with decreased dose of warfarin as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8426351","article_title":"Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans","article_path":"articles/PMC8426351.md","variant_annotation_id":1451503720,"variant_haplotypes":"rs2266782","gene":"FMO3","drugs":"teneligliptin","pmid":34512362,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"effect described for (rs2266780/rs2266782). Significant for clearance, Cmax, and AUC.","sentence":"Genotypes AG + GG is associated with decreased clearance of teneligliptin in men as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2865873","article_title":"Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups","article_path":"articles/PMC2865873.md","variant_annotation_id":637879838,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":20203262,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6298606","article_title":"Single Nucleotide Variant in Nucleoporin 107 may be Predictive of Sensitivity to Chemotherapy in Patient with Ovarian Cancer","article_path":"articles/PMC6298606.md","variant_annotation_id":1448635633,"variant_haplotypes":"rs79419059","gene":"NUP107","drugs":"Platinum compounds","pmid":28562428,"phenotype_category":"Efficacy","significance":"yes","notes":"In the cohort, 25 patients received carboplatin-based first line therapy and 3 received cisplatin therapy. Controlling for other con-founders, multivariate age-adjusted Cox proportional hazard analysis showed that the variant rs79419059 was significantly associated with platinum resistance [odds ratio: 4.519, 95% confidence interval (CI): 1.317\u201315.501, P = 0.0457].","sentence":"Allele C is associated with increased resistance to Platinum compounds in women with Ovarian Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Ovarian Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451339940,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, CYP2C9*2 allele is associated with 6.8mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"CYP2C9 *1/*2 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5859345","article_title":"Evaluation of CYP2C9- and VKORC1-based pharmacogenetic algorithm for warfarin dose in Gaza-Palestine","article_path":"articles/PMC5859345.md","variant_annotation_id":1449262642,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":29568565,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9585281","article_title":"Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention","article_path":"articles/PMC9585281.md","variant_annotation_id":1451930254,"variant_haplotypes":"rs4986893","gene":"CYP2C19","drugs":"clopidogrel","pmid":36278153,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CYP2C19*3 GA carriers presented significantly lower mean PAIR% values (66.39 \u00b1 25.68) than CYP2C19*3 GG carriers\". There were only 3 AA individuals.","sentence":"Genotype AG is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002426,"variant_haplotypes":"rs8071253","gene":"TK1","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4100708","article_title":"Secondary metabolism pathway polymorphisms and plasma efavirenz concentrations in HIV-infected adults with CYP2B6 slow metabolizer genotypes","article_path":"articles/PMC4100708.md","variant_annotation_id":1184467530,"variant_haplotypes":"rs28365062","gene":"UGT2B7","drugs":"efavirenz","pmid":24729586,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As measured by increased plasma concentrations in patients with the GG genotype compared to the other genotypes (allele model was not statistically significant, perhaps due to low numbers of patients with the GG genotype). *Note: All participants were CYP2B6 slow metabolizers (defined by the following genotypes of two SNPs: rs3745274 TT, or rs3745274 T/rs28399499 C or rs28399499 CC).*","sentence":"Genotype GG is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC6920759","article_title":"Evaluation of the Effect of CYP2D6 Genotypes on Tramadol and O-Desmethyltramadol Pharmacokinetic Profiles in a Korean Population Using Physiologically-Based Pharmacokinetic Modeling","article_path":"articles/PMC6920759.md","variant_annotation_id":1451134168,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"o-desmethyltramadol","pmid":31744222,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Note that no statistical analysis was carried out on data from the clinical study. All IMs had the *10/*10 genotype, while all PMs had the *5/*5 genotype. The genotypes of all NMs are not given and the study did not look for CNVs to identify UMs.","sentence":"CYP2D6 intermediate metabolizer and poor metabolizer are associated with decreased concentrations of o-desmethyltramadol in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451105019,"variant_haplotypes":"rs10166942","gene":"TRPM8","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele C is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043099,"variant_haplotypes":"rs4149015","gene":"SLCO1B1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"2 patients with the AG genotype (who also had rs4149056 genotype TC) had significantly lower plasma Cmax and AUC. This variant was described as -11187G>A.","sentence":"Genotype AG is associated with increased metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5614982","article_title":"Impact of Gastric H+/K+-ATPase rs2733743 on the Intragastric pH-Values of Dexlansoprazole Injection in Chinese Subjects","article_path":"articles/PMC5614982.md","variant_annotation_id":1451136980,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"dexlansoprazole","pmid":29018343,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2C19*2 (rs4244285), CYP2C19*3 (rs4986893), CYP2C19*17 (rs12248560) were genotyped but only *2 and *3 were identified. CYP2C19 PMs presented a slower elimination and higher exposure (Cmax and AUCPK) compared to CYP2C19 homEMs, while the elimination and exposure of CYP2C19 hetEMs were intermediate between that of PMs and homEMs. In the 30 mg group, CYP2C19 PMs exhibit significantly higher Cmax, AUCPK, and t1/2 than homEMs and presented remarkably higher AUCPK and t1/2 than those of CYP2C19 hetEMs. CYP2C19 hetEMs shows a significantly higher Cmax and AUCPK compared to CYP2C19 homEMs.","sentence":"CYP2C19 *1/*2 + *1/*3 are associated with decreased metabolism of dexlansoprazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896099,"variant_haplotypes":"rs12729349","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2976715","article_title":"Role of Organic Cation Transporter 3 (SLC22A3) and Its Missense Variants in the Pharmacologic Action of Metformin","article_path":"articles/PMC2976715.md","variant_annotation_id":769180270,"variant_haplotypes":"rs8187725","gene":"SLC22A3","drugs":"catecholamines, metformin","pmid":20859243,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"In cells expressing the T variant, the uptake of these drugs was significantly reduced(about 80%).","sentence":"Allele T is associated with decreased metabolism of catecholamines and metformin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"and","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5656562","article_title":"CYP3A4 genotype is associated with sildenafil concentrations in patients with heart failure with preserved ejection fraction","article_path":"articles/PMC5656562.md","variant_annotation_id":1449164327,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"sildenafil","pmid":28440343,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"High-dose sildenafil in patients with heart failure with preserved left ventricular ejection fraction. Dose-adjusted peak concentrations were tested at week 12 and 24. p-value for significance was set at p<0.0167. Only significant in the subgroup of Caucasians, not in the whole patient population.","sentence":"CYP3A4 *1/*22 is associated with increased concentrations of sildenafil in people with Heart Failure as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6373376","article_title":"Effect of Fluconazole Coadministration and CYP2C9 Genetic Polymorphism on Siponimod Pharmacokinetics in Healthy Subjects","article_path":"articles/PMC6373376.md","variant_annotation_id":1451230861,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"siponimod","pmid":30088221,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The AUC \u221e and AUC last of siponimod were approximately two and fourfold higher in PMs (CYP2C9*2/*3 and CYP2C9*3/*3), respectively, compared with CYP2C9 EMs (CYP2C9*1/*1). The siponimod plasma T\u00bd was also prolonged in subjects with the CYP2C9*2/*3 and CYP2C9*3/*3 genotypes (50.9 and 126 h, respectively) compared with EMs (CYP2C9*1/*1: 28.1 h), suggesting that the reduced CYP2C9 enzymatic activity does not affect the absorption phase of siponimod but prolongs the elimination phase.","sentence":"CYP2C9 *2/*3 + *3/*3 are associated with increased concentrations of siponimod in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5373543","article_title":"Pharmacogenomics study on cadherin 2 network with regard to HIV infection and methadone treatment outcome","article_path":"articles/PMC5373543.md","variant_annotation_id":1448995530,"variant_haplotypes":"rs8094439","gene":"CDH2","drugs":"methadone","pmid":28358908,"phenotype_category":"Efficacy","significance":"yes","notes":"Association between SNP and response to methadone is not directly shown in the paper. Genotype AA is associated with increased concentrations of CDH2 in plasma and individuals with increased CDH2 levels had an improved response to methadone treatment (p=0.005).","sentence":"Genotype AA is associated with increased response to methadone as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433697,"variant_haplotypes":"rs12745871","gene":"PDE4B","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele T is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436965,"variant_haplotypes":"rs3850736","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6E-7.","sentence":"Allele G is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896221,"variant_haplotypes":"rs74546197","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11666798","article_title":"Influence of CYP2C8*3 and ABCG2 C421A genetic polymorphisms on trough concentration and molecular response of imatinib in Egyptian patients with chronic myeloid leukemia","article_path":"articles/PMC11666798.md","variant_annotation_id":1452798983,"variant_haplotypes":"rs11572080","gene":"CYP2C8","drugs":"imatinib","pmid":39714624,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles complemented. There were no TT homozygotes. \"Assessment of molecular response to imatinib based on the BCR-ABL1 transcript level at 12 months. Responders (n\u2009=\u200926); Non-responders (n\u2009=\u200924). \" \"No statistically significant difference was found between the frequency of GG and GA genotypes of CYP2C8*3 in the two groups (p\u2009=\u20090.1902). \"","sentence":"Genotype CT is not associated with decreased clinical benefit to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631772,"variant_haplotypes":"rs2252281","gene":"SLC47A1","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele C is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2291274","article_title":"The CYP2D6 polymorphism in relation to the metabolism of amitriptyline and nortriptyline in the Faroese population","article_path":"articles/PMC2291274.md","variant_annotation_id":1446903476,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"amitriptyline","pmid":17764479,"phenotype_category":"Dosage","significance":"no","notes":"The study reports on CYP2D6PM (5) compared to EM (18, only phenotypically characterized) but diplotype was only reported for PM. 5 PMs (genotype as *4/*4) were included in the study.","sentence":"CYP2D6 *4/*4 (assigned as poor metabolizer phenotype) is not associated with dose of amitriptyline as compared to CYP2D6 normal metabolizer.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3984266","article_title":"Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer","article_path":"articles/PMC3984266.md","variant_annotation_id":1446895530,"variant_haplotypes":"rs4779584","gene":null,"drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":24727911,"phenotype_category":"Efficacy","significance":"no","notes":"SNPs were investigated for their effects on response rate, time to progression and overall survival. After accounting for multiple testing there was no association with any SNPs and outcomes of patients with metastatic colorectal cancer.","sentence":"Allele T is not associated with response to fluorouracil, irinotecan and oxaliplatin in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164073,"variant_haplotypes":"rs2501873","gene":"NR1I3","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"no","notes":"Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Allele C is not associated with dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310666,"variant_haplotypes":"rs5215","gene":"KCNJ11","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4949007","article_title":"CYP2D6 function moderates the pharmacokinetics and pharmacodynamics of 3,4-methylene-dioxymethamphetamine in a controlled study in healthy individuals","article_path":"articles/PMC4949007.md","variant_annotation_id":1448109250,"variant_haplotypes":"CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"3,4-methylenedioxymethamphetamine","pmid":27253829,"phenotype_category":"Efficacy","significance":"yes","notes":"Elevations in systolic blood pressure were greater in PMs compared with IMs (P = 0.02, *4/*10(6) *4/*41(4) *5/*10(2) *5/*41(1) *10/*41(4) *10/*10(1) *4/*9 (1)) and EMs (P = 0.01, *1/*3(2) *1/*6(2) *2/*4(15) *2/*5(1) *9/*10(2); *1/*41(4) *1/*10(2) *1/*9(3) *2/*10(3) *2/*41(5); *1/*1(22) *1/*2(23) *2/*2(16) *1/*4 (11)) at 0.6 h (F2,135 = 3.50, P = 0.03) and also tended to be greater at 1 h (F2,135 = 2.49, P = 0.09).","sentence":"CYP2D6 *4/*4 + *3/*5 is associated with increased response to 3,4-methylenedioxymethamphetamine as compared to CYP2D6 *4/*10 + *4/*41 + *5/*10 + *5/*41 + *10/*41 + *10/*10 + *4/*9 (assigned as intermediate metabolizer phenotype) .","alleles":"*4/*4 + *3/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*4/*10 + *4/*41 + *5/*10 + *5/*41 + *10/*41 + *10/*10 + *4/*9","comparison_metabolizer_types":"intermediate metabolizer"} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356707,"variant_haplotypes":"rs17561","gene":"IL1A","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3729209","article_title":"CYP2B6 and bupropion\u2019s smoking cessation pharmacology: the role of hydroxybupropion","article_path":"articles/PMC3729209.md","variant_annotation_id":1445403153,"variant_haplotypes":"CYP2B6*1, CYP2B6*4, CYP2B6*5, CYP2B6*6, CYP2B6*18, CYP2B6*22","gene":"CYP2B6","drugs":"bupropion","pmid":23149928,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Light smokers. Individuals with one copy of a reduced function allele (*6, *18) were grouped into the \"intermediate metabolizer\" group. The genotypes within this group were *1/*6 (n=53), *1/*18 (n=8), *1/*6 + *1/*5 (compound heterozygote; n=1), *1/*6 + *1/*22 (compound heterozygote; n=2). Individuals with *1/*1 (n=48), *1/*4 (n=1), *1/*5 (n=4), *1/*22 (n=4), and *22/*22 (n=1) genotype were considered normal metabolizers. Intermediate metabolizers had decreased hydroxybupropion/bupropion ratios as compared to normal metabolizers. No significant result was seen when considering bupropion levels (p=0.056) or hydroxybupropion levels (p=0.052).","sentence":"CYP2B6 *1/*6 + *1/*18 is associated with decreased metabolism of bupropion in people with Tobacco Use Disorder as compared to CYP2B6 *1/*1 + *1/*4 + *1/*5 + *1/*22 + *22/*22.","alleles":"*1/*6 + *1/*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*4 + *1/*5 + *1/*22 + *22/*22","comparison_metabolizer_types":null} -{"pmcid":"PMC11773116","article_title":"Exploring the contribution of genetic variants to high sunitinib exposure in patients with cancer","article_path":"articles/PMC11773116.md","variant_annotation_id":1452564140,"variant_haplotypes":"rs6923761","gene":"GLP1R","drugs":"sunitinib","pmid":39107874,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Only 1 marker reached genome-wide statistical significance, rs6923761 (chromosome 6; P = 7.86 \u0003 10\u000419), located in the glucagon-like peptide 1 receptor (GLP1R) gene. This SNV had a MAF of 0.3 and an effect size \u03b2M of \u00043.18 (odds ratio 0.04), suggesting that carriers of this variant allele have a decreased sunitinib concentration. \"","sentence":"Allele A is associated with decreased concentrations of sunitinib in people with Carcinoma, Renal Cell or Gastrointestinal Stromal Tumors as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Renal Cell Carcinoma, Other:Gastrointestinal Stromal Tumors","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5871545","article_title":"Variants in the CYP2B6 3\u2032UTR alter in vitro and in vivo CYP2B6 activity: potential role of microRNAs","article_path":"articles/PMC5871545.md","variant_annotation_id":1448997614,"variant_haplotypes":"rs1042389","gene":"CYP2B6","drugs":"efavirenz","pmid":28960269,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The rs70950385 and rs1042389 variants were in complete linkage disequilibrium (r2=1, D\u2019=1).","sentence":"Genotype TT is associated with decreased metabolism of efavirenz in healthy individuals as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928233,"variant_haplotypes":"rs3803300","gene":"AKT1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613466,"variant_haplotypes":"rs4148323","gene":"UGT1A1","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"Allele G is not associated with metabolism of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5871545","article_title":"Variants in the CYP2B6 3\u2032UTR alter in vitro and in vivo CYP2B6 activity: potential role of microRNAs","article_path":"articles/PMC5871545.md","variant_annotation_id":1448997604,"variant_haplotypes":"rs7246465","gene":"CYP2B6","drugs":"efavirenz","pmid":28960269,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"An increase in CYP2B6 activity was also seen among volunteers carrying the rs7246465 variant allele (C/C vs. C/T [38.0% increase; p<0.01] and T/T [67.9% increase; p<0.0001])\".","sentence":"Genotypes CT + TT are associated with increased metabolism of efavirenz in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161360,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype or phenotype frequencies between responders and non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for.","sentence":"CYP3A5 *3/*3 is not associated with response to methadone in people with Opioid-Related Disorders as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4116670","article_title":"OCT1 genetic variants influence the pharmacokinetics of morphine in children","article_path":"articles/PMC4116670.md","variant_annotation_id":1451097460,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"morphine","pmid":23859569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with two loss of function SLC22A1 alleles (*2 rs72552763 GAT>del, *3 rs12208357C>T, *4 rs34130495 G>A, or *5 rs34059508 G>A) were grouped together and had significantly lower clearance compared to children with the *1/*1 or *1/variant genotype.","sentence":"Genotype TT is associated with decreased clearance of morphine in children with adenotonsillectomy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:adenotonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4595504","article_title":"ITPA Polymorphisms Are Associated with Hematological Side Effects during Antiviral Therapy for Chronic HCV Infection","article_path":"articles/PMC4595504.md","variant_annotation_id":1446905582,"variant_haplotypes":"rs7270101","gene":"ITPA","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26441325,"phenotype_category":"Efficacy","significance":"no","notes":"The authors actually compared platelet counts between patients with normal or deficient ITPase activity. Patients with the composite genotypes of rs1127354 CC and rs7270101 AA had \"normal ITPase activity\" and all other genotype combinations were classified as \"deficient\". Univariable logistic regression normal ITPase activity was not significantly associated with virological relapse.","sentence":"Genotype AA is not associated with response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814235,"variant_haplotypes":"rs588765","gene":"CHRNA5","drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS.","sentence":"Allele C is not associated with concentrations of cotinine in people with Tobacco Use Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5611711","article_title":"Influence of genetic variants on renal uric acid handling in response to frusemide: an acute intervention study","article_path":"articles/PMC5611711.md","variant_annotation_id":1449001719,"variant_haplotypes":"rs11942223","gene":"SLC2A9","drugs":"furosemide","pmid":28951782,"phenotype_category":"Efficacy","significance":"no","notes":"There was no difference in either the absolute values of serum urate, nor in fractiona excretion of uric acid over the study period between those carrying the C allele versus those that did not.","sentence":"Allele C is not associated with response to furosemide in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3625373","article_title":"The Missing Association: Sequencing-Based Discovery of Novel SNPs in VKORC1 and CYP2C9 That Affect Warfarin Dose in African Americans","article_path":"articles/PMC3625373.md","variant_annotation_id":769245704,"variant_haplotypes":"rs61162043","gene":"VKORC1","drugs":"warfarin","pmid":21270790,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with increased dose of warfarin.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166094,"variant_haplotypes":"rs2295490","gene":"TRIB3","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11755583","article_title":"ABCB1 Polymorphism Is Associated with Higher Carbamazepine Clearance in Children","article_path":"articles/PMC11755583.md","variant_annotation_id":1452827220,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"carbamazepine","pmid":39846525,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Alleles complemented. \"Our main finding was that the presence of the ABCB1 1236T-2677T-3435T haplotype was associated with an increased clearance of CBZ in children. \" \"rs1128503 (1236C>T)\"","sentence":"Allele A is associated with increased clearance of carbamazepine in children with Epilepsy as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954083,"variant_haplotypes":"rs228666","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4915265","article_title":"Variation in Dopamine D2 and Serotonin 5-HT2A Receptor Genes is Associated with Working Memory Processing and Response to Treatment with Antipsychotics","article_path":"articles/PMC4915265.md","variant_annotation_id":1447813735,"variant_haplotypes":"rs1076560","gene":"DRD2","drugs":"olanzapine","pmid":25563748,"phenotype_category":"Efficacy","significance":"yes","notes":"The associations were evaluated in conjunction with rs6314 in the HTR2A gene. rs1076560 GT/rs6314 CC diplotype was associated with better responses to antipsychotics than the rs1076560 GG/rs6314 CT diplotype","sentence":"Genotypes AA + AC is associated with increased response to olanzapine in people with Schizophrenia as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10196221","article_title":"Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study","article_path":"articles/PMC10196221.md","variant_annotation_id":1452107207,"variant_haplotypes":"rs4553122","gene":"NCMAP","drugs":"rivaroxaban","pmid":37203300,"phenotype_category":"Toxicity","significance":"no","notes":"as measured by peak anti\u2010FXa level. Association described as \"suggestive\". \"The incidence of bleeding events were significantly related to the peak anti\u2010FXa level, which were significantly increased in patients with bleeding events than in those without\"","sentence":"Allele C is associated with increased response to rivaroxaban in people with Atrial Fibrillation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10967865","article_title":"Impact of Pharmacogenetic Testing on Clozapine Treatment Efficacy in Patients with Treatment-Resistant Schizophrenia","article_path":"articles/PMC10967865.md","variant_annotation_id":1452435401,"variant_haplotypes":"rs6314","gene":"HTR2A","drugs":"clozapine","pmid":38540209,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. \"When investigating whether the psychopathology scales were different in carriers of HTR2A rs6314 allele, we observed several significant associations with the scores on PANSS-positive (p = 0.013). Specifically, the allele T (mutant variant) was associated with greater reduction in positive symptoms scores that could be related with better response. Only one patient presented the T/T (Tyr452/Tyr452) genotype and there were 14 patients with C/T (His452/Tyr452) heterozygosity. Those with the C/T genotype showed lower values on the scales of psychotic symptomatology compared to the C/C (His452/His452) homozygotes patients (p = 0.051).\"","sentence":"Genotypes AA + AG is associated with increased clinical benefit to clozapine in people with Schizophrenia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10381361","article_title":"Pilot Study: Personalized Medicine in Endoscopy, Can Pharmacogenomics Predict Response to Conscious Sedation?","article_path":"articles/PMC10381361.md","variant_annotation_id":1452197220,"variant_haplotypes":"CYP2C19 poor metabolizers and intermediate metabolizers","gene":"CYP2C19","drugs":"fentanyl, meperidine, midazolam","pmid":37511720,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients were divided into two groups based on sedation requirements during endoscopy (high vs. normal sedation). The high sedation requirement group was defined by a sedation requirement of midazolam >10 mg, fentanyl >100 mcg, meperidine >100 mg, or an aborted procedure due to failed moderate sedation and/or the transition to propofol sedation to complete the procedure. The normal sedation requirement group was defined as the complete absence of the above conditions that define the high sedation requirement group.\" \"Patients with reduced CYP2C19 metabolism (poor + intermediate metabolizers) (OR = 0.38, 95% CI: 0.16\u20130.91, p = 0.03), poor CYP3A5 metabolism (OR = 0.25, 95% CI: 0.095\u20130.65, p = 0.0046), and poor UGT1A1 (OR = 2.76, 95% CI: 1.07\u20137.13, p = 0.08) had higher odds of requiring normal sedation compared to those with CYP2C19 increased metabolism, CYP3A5 intermediate metabolism, and UGT1A1 intermediate metabolism\"","sentence":"CYP2C19 poor metabolizers and intermediate metabolizers is associated with decreased dose of fentanyl, meperidine or midazolam in people with sedation as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:sedation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2812115","article_title":"CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose","article_path":"articles/PMC2812115.md","variant_annotation_id":769250174,"variant_haplotypes":"rs12782374","gene":"CYP2C9","drugs":"warfarin","pmid":19855097,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"after excluding those patients carrying CYP2C9*2, *3, and VKORC1 variant; alleles.","sentence":"Allele A is not associated with dose of warfarin in people with stable INRs in target range of 2-3 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:stable INRs in target range of 2-3","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995815,"variant_haplotypes":"rs2236416","gene":"MMP9","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699026,"variant_haplotypes":"rs10735239","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4038024","article_title":"CYP3A5 Gene Variation Influences both Systemic and Intrarenal Tacrolimus Disposition","article_path":"articles/PMC4038024.md","variant_annotation_id":1183690021,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23073208,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the CT or TT (CYP3A5 *1/*3 or *1/*1) genotype had 1.6-fold higher oral tacrolimus clearance and 2.0 - 2.7-fold higher metabolite/parent area under the curve (AUC) ratios for 31-desmethyl tacrolimus (31-DMT), 12-hydroxytacrolimus, and 13-desmethyl tacrolimus (13-DMT), as compared to individuals with the CC (*3/*3) genotype. Subjects who carry two copies of loss-of-function CYP3A5 alleles (CYP3A5*3, CYP3A5*6/rs10264272 or CYP3A5*7/rs41303343) were pooled together as CYP3A5 non-expressors for this analysis. CYP3A5 *1 allele carriers were pooled togethers as CYP3A5 expressors.","sentence":"Genotypes CT + TT is associated with increased clearance of tacrolimus in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183698994,"variant_haplotypes":"rs496503","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5319785","article_title":"Genome-wide study of resistant hypertension identified from electronic health records","article_path":"articles/PMC5319785.md","variant_annotation_id":1448612748,"variant_haplotypes":"rs13144136","gene":"CLNK","drugs":"Antihypertensives","pmid":28222112,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele G is associated with increased response to Antihypertensives in people with Hypertension as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11717999","article_title":"Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations","article_path":"articles/PMC11717999.md","variant_annotation_id":1452808180,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"aripiprazole, dehydroaripiprazole","pmid":39789135,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Regarding ARI/DHA ratio, significant differences between the different variants were observed in the three SNPs analyzed. Specifically, for C3434T it was obtained an ARI/DHA ratio 37.4% higher for CC (2.35) compared to the TT variant (1.71), for G2677T 93% higher for GG (3.27) vs TT (1.69) and for C1236T 64.2% higher for CC (2.93) vs TT (1.78) (Fig. 1A). Comparing Non-T carriers vs. T carriers variants as a whole, yielded 22.3%, 70.07% and 47.43% more respectively, maintaining statistical significance (Fig. 1B).\" \"For ABCB1, the following variants were analyzed: C3435T (rs1045642), C2677 T/A (rs2032582) and C1236T (rs1128503).\"","sentence":"Genotype CC is associated with increased concentrations of aripiprazole and dehydroaripiprazole as compared to genotype AA.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC8373649","article_title":"SNPs in PRKG1 and SPATA13-AS1 are associated with bronchodilator response: A pilot study during acute asthma exacerbations in African American children","article_path":"articles/PMC8373649.md","variant_annotation_id":1451927546,"variant_haplotypes":"rs7081864","gene":null,"drugs":"salbutamol","pmid":33851947,"phenotype_category":"Efficacy","significance":"yes","notes":"rs7903366 was significantly negatively associated with having a high bronchodilator response category in an adjusted analysis. Risk allele not explicit stated in text only in table 1 summarizing prior studies.","sentence":"Allele A is associated with decreased response to salbutamol in children with Asthma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1451928620,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"lower Vd/F and Cl/F and higher AUC0-\u221e/DW were significant and Vd/F remained significant after Bonferroni.","sentence":"Genotypes AA + AG is associated with decreased clearance of rasagiline in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165380,"variant_haplotypes":"rs396991","gene":"FCGR3A","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 15 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2911553","article_title":"CYP4F2 rs2108622: a minor significant genetic factor of warfarin dose in Han Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC2911553.md","variant_annotation_id":981483987,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":20653676,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with increased dose of warfarin in people with mechanical heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:mechanical heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928312,"variant_haplotypes":"rs9606186","gene":"COMT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1474035","article_title":"Variation in the Gene Encoding the Serotonin 2A Receptor Is Associated with Outcome of Antidepressant Treatment","article_path":"articles/PMC1474035.md","variant_annotation_id":1452040215,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"citalopram","pmid":16642436,"phenotype_category":"Efficacy","significance":"no","notes":"Remitters achieved a QIDS-C score of <= 5 at the last treatment visit; probable remitters achieved a score of 6 or 7. Non- remitters had a QIDS-C16 score of >= 10 at the last visit. Those with a final QIDS-C16 score in the borderline range of 8 and 9 were excluded from analysis. Responders achieved at least a 50% reduction in base- line QIDS-C16 at the last treatment visit; probable respond- ers achieved a 45%\u201350% reduction. Nonresponders did not achieve even a 40% reduction in baseline QIDS-C score at the last treatment visit. Those with a reduction in QIDS-C16 in the borderline range of 40%\u201345% were excluded from analysis.","sentence":"Allele A is not associated with response to citalopram in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930500,"variant_haplotypes":"rs16872401","gene":null,"drugs":"hydrochlorothiazide","pmid":29650764,"phenotype_category":"Efficacy","significance":"yes","notes":"The C allele was associated with an increased systolic blood pressure response to hydrochlorothiazide.","sentence":"Allele C is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8222836","article_title":"Genetic variants related to successful migraine prophylaxis with verapamil","article_path":"articles/PMC8222836.md","variant_annotation_id":1452315166,"variant_haplotypes":"rs3733694","gene":"PCDHB8","drugs":"verapamil","pmid":33829662,"phenotype_category":"Efficacy","significance":"yes","notes":"\"There are 3 highly significant SNPs (p\u2010value < 0.008) in both the arithmetic and percentage change models: rs2230433 within the Integrin Subunit Alpha L gene (ITGAL) [OMIM#153370], rs17844444 in Protocadherin Beta 6 gene (PCDHB6) [OMIM#606332] and rs3733694 in Protocadherin Beta 7 gene (PCDHB7) [OMIM#606333].\" \"rs17844444 (PCDHB6) and rs3733694 (PCDHB7), the minor alleles predicted non\u2010response to verapamil.\"","sentence":"Allele G is associated with decreased clinical benefit to verapamil in people with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981731560,"variant_haplotypes":"rs4149601","gene":"NEDD4L","drugs":"atenolol","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to atenolol in people with Hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4479596","article_title":"Effect of CYP2B6 Gene Polymorphisms on Efavirenz Plasma Concentrations in Chinese Patients with HIV Infection","article_path":"articles/PMC4479596.md","variant_annotation_id":1448997129,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":26107645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4731723","article_title":"TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis","article_path":"articles/PMC4731723.md","variant_annotation_id":1447982696,"variant_haplotypes":"rs5743854","gene":"TOLLIP","drugs":"acetylcysteine","pmid":26331942,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical endpoints included death, transplant, hospitalization, or FVC decline, and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center. Alleles given on reverse strand A and G.","sentence":"Genotype CC is not associated with response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pulmonary Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896123,"variant_haplotypes":"rs6889896","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5386607","article_title":"Association of the PPP3CA c.249G>A variant with clinical outcomes of tacrolimus-based therapy in kidney transplant recipients","article_path":"articles/PMC5386607.md","variant_annotation_id":1448819442,"variant_haplotypes":"rs3730251","gene":"PPP3CA","drugs":"tacrolimus","pmid":28435308,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was found between this variant and dose, concentration or dose-adjusted concentration of tacrolimus. The authors do not show the data underlying these results in the paper. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT is not associated with exposure to tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5306247","article_title":"Impact of CYP3A4*1G Allele on Clinical Pharmacokinetics and Pharmacodynamics of Clopidogrel","article_path":"articles/PMC5306247.md","variant_annotation_id":1450824004,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"clopidogrel","pmid":26891871,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in concentrations of clopidogrel or its metabolites between genotype groups. The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Genotype C/T is not associated with metabolism of clopidogrel in people with Coronary Artery Disease as compared to genotype C/C.","alleles":"C/T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C/C","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896093,"variant_haplotypes":"rs16871297","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3414671","article_title":"Naltrexone Modification of Drinking Effects in a Sub-Acute Treatment and Bar-Lab Paradigm: Influence of OPRM1 and Dopamine Transporter (SCL6A3) Genes","article_path":"articles/PMC3414671.md","variant_annotation_id":1449161179,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":22551036,"phenotype_category":"Efficacy","significance":"no","notes":"It should be noted that no overall effect of naltrexone treatment on alcohol consumption was observed. The authors suggest that this may be due to differences in the study cohort, bias or a type II error.","sentence":"Allele A is not associated with response to naltrexone in people with Alcoholism as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6289816","article_title":"Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms","article_path":"articles/PMC6289816.md","variant_annotation_id":1449750346,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5, NUDT15*6","gene":"NUDT15","drugs":"mercaptopurine","pmid":29967377,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"Doses were adjusted to give maintain a leukocyte count of 1500\u20133000 /\u00b5l. Mean dose for *1/*1, *1/*2, *1/*5 or *1/*6 was approximately 40mg/m2, and for *1/*3 was approx 20mg/m2 and for *3/*3 and *3/*5 was approx 5mg/m2.","sentence":"NUDT15 *1/*3 is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1 + *1/*5 + *1/*6 + *1/*2.","alleles":"*1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*5 + *1/*6 + *1/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC524175","article_title":"Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment","article_path":"articles/PMC524175.md","variant_annotation_id":655387074,"variant_haplotypes":"rs1367117","gene":"APOB","drugs":"irbesartan","pmid":15453913,"phenotype_category":"Efficacy","significance":"yes","notes":"reduction in systolic blood pressure. Treatment was with 150 mg/day for 12 weeks. The dose was doubled; after six weeks if the diastolic blood pressure was >= 90; mmHg.; Avg reduction in G carriers was 14 mm Hg.","sentence":"Genotype GG is associated with response to irbesartan in people with Hypertension.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693787,"variant_haplotypes":"rs1799724","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"yes","notes":"When in a haplotype with rs1800629 and rs361525. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Those homozygous for the GGC (rs361525-rs1800629-rs1799724) haplotype had a significantly lower ACR50 response rate as compared to subjects with any other diplotype (see paper for diplotypes present in population). This effect was more important in a subgroup of patients receiving concomitant methotrexate.","sentence":"Genotype CC is associated with decreased response to adalimumab in people with Arthritis, Rheumatoid.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814223,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. This SNP was re-analyzed because of previous evidence demonstrating association with smoking quantity. It was also significantly associated with cotinine levels in the meta-analysis.","sentence":"Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682073,"variant_haplotypes":"rs833069","gene":"VEGFA","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"yes","notes":"Age-related macular degeneration. Patients with the CC or CT genotype had greater decreases in central subfield macular thickness (CSMT) between baseline and 3 or 6 months of treatment, as compared to those with the TT genotype. This indicates a better visual outcome. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are associated with increased response to ranibizumab in people with Macular Degeneration as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954045,"variant_haplotypes":"rs3736544","gene":"CLOCK","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6493603","article_title":"Effects of SCN1A and GABA Receptor Genetic Polymorphisms on Carbamazepine Tolerability and Efficacy in Chinese Patients with Partial Seizures: 2\u2010Year Longitudinal Clinical Follow\u2010Up","article_path":"articles/PMC6493603.md","variant_annotation_id":982023290,"variant_haplotypes":"rs2290732","gene":"GABRA1","drugs":"carbamazepine","pmid":22591328,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA and AG genotypes have increased tolerability to carbamazepine. Tolerability was assessed by retention rates, or the proportion of patients that continued to take carbamazepine for seizures over the previous 3 months. Patients were assessed every 3 months for 24 months. The retention rates for the AA + AG genotypes were significantly greater than the retention rate for the GG genotype during months 9 - 24 of treatment.","sentence":"Genotypes AA + AG are associated with increased response to carbamazepine in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9891445","article_title":"Effects of genetic polymorphisms on methotrexate levels and toxicity in Chinese patients with acute lymphoblastic leukemia","article_path":"articles/PMC9891445.md","variant_annotation_id":1452009006,"variant_haplotypes":"rs3788200","gene":"SLC19A1","drugs":"methotrexate","pmid":36742186,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"at 24 hours.","sentence":"Genotypes AG + GG is associated with increased concentrations of methotrexate in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4183989","article_title":"Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans","article_path":"articles/PMC4183989.md","variant_annotation_id":1184512419,"variant_haplotypes":"rs7856096","gene":"FPGS","drugs":"warfarin","pmid":25079360,"phenotype_category":"Dosage","significance":"yes","notes":"In the discovery cohort the uncorrected p-value was 1.82E-8. P-values were adjusted using Bonferroni correction, with a significance cutoff of 3.22E-7 based on the 155,186 SNPs tested in the discovery cohort.","sentence":"Allele G is associated with decreased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4335884","article_title":"Pharmacokinetics and Safety of Voriconazole Intravenous-to-Oral Switch Regimens in Immunocompromised Japanese Pediatric Patients","article_path":"articles/PMC4335884.md","variant_annotation_id":1445584831,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":25451051,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Patients were being switched from intravenous (IV) to oral voriconazole. 20 patients were present for the IV portion, and 18 for the oral portion. In both the IV and oral treatment groups, those who were CYP2C19 poor metabolizers (PM; n=2; *2/*2, *2/*3 or *3/*3 genotype) had the highest area under the curve over dosing interval at steady state (AUC0-12,ss), peak plasma concentration at steady state (Cmax, ss) and trough plasma concentration at steady state (Cmin, ss), followed by heterozygous extensive metabolizers (HEM; n=10; *1/*2 or *1/*3) and then extensive metabolizers (EM; n=8 for IV and n=6 for oral; *1/*1 or *1/*17). That is, PM > HEM > EM for AUC0-12, Cmax and Cmin. Concordant results were also found when considering the N-oxide metabolite/voriconazole ratio of AUC0-12,ss, with PMs having the lowest ratio, followed by HEMs and then EMs. However: 1) no statistical analyses were done on these differences, 2) the authors do not state whether each of these genotypes were actually present in the population, and 3) the authors state that there was substantial overlap in voriconazole concentrations between the EM and HEM groups.","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3 is associated with increased concentrations of voriconazole in children as compared to CYP2C19 *1/*1 + *1/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":982044349,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with increased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4931885","article_title":"Population Pharmacokinetics of Oral Topotecan in Infants and Very Young Children with Brain Tumors Demonstrates a Role of ABCG2 rs4148157 on the Absorption Rate Constant","article_path":"articles/PMC4931885.md","variant_annotation_id":1447981305,"variant_haplotypes":"rs4148157","gene":"ABCG2","drugs":"topotecan","pmid":27052877,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Absorption rate constant and circulating concentrations. Patients homozygous or heterozygous for G>A demonstrated Ka 2-fold higher than patients with GG genotype, and also a 2-fold higher maximal concentration. Patients stratified into one of three risk arms base on stage of metastasis, diagnosis, extent of resection, histologic subtype, and age at diagnosis (into low, intermediate, high). Each treatment arm had induction, consolidation, maintenance. During maintenance, patients got oral topotecan (0.8 mg/m2) for ten days and oral cyclophosphamide (30 mg/m2) for 21 days on a 28-day cycle for three cycles.","sentence":"Genotypes AA + AG is associated with increased concentrations of topotecan in children with Brain Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Brain Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163553,"variant_haplotypes":"rs2257401","gene":"CYP3A7","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this passed validation in the EA cohort. Direction of effect was not stated.","sentence":"Allele C is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2911553","article_title":"CYP4F2 rs2108622: a minor significant genetic factor of warfarin dose in Han Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC2911553.md","variant_annotation_id":981483977,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":20653676,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"2.6 mg/day vs 4.0 mg/day.","sentence":"Genotype TT is associated with decreased dose of warfarin in people with mechanical heart valve replacement as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:mechanical heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105661,"variant_haplotypes":"rs20572","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased concentrations of doxorubicin in people with Breast Neoplasms as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC2812115","article_title":"CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose","article_path":"articles/PMC2812115.md","variant_annotation_id":769250168,"variant_haplotypes":"rs12782374","gene":"CYP2C9","drugs":"phenytoin","pmid":19855097,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Statistics given for haplotype *1B measured by rs71486745delTG and rs12782374G>A.","sentence":"Genotypes AA + AG are associated with decreased dose of phenytoin in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4702374","article_title":"A multi-factorial analysis of response to warfarin in a UK prospective cohort","article_path":"articles/PMC4702374.md","variant_annotation_id":1447680563,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":26739746,"phenotype_category":"Dosage","significance":"yes","notes":"The CYP4F2 variant only plays a small effect on warfarin mean weekly dose (MWD). It explained only a further 0.5 % of the MWD variance.","sentence":"Allele T is associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4814312","article_title":"Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study","article_path":"articles/PMC4814312.md","variant_annotation_id":1447813645,"variant_haplotypes":"rs78015114","gene":null,"drugs":"lithium","pmid":26806518,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients had been taking lithium for at least 6 mo. Response to lithium was assayed using the Alda scale, which quantifies symptom improvement over time. The scale is from 0-10, with 10 being the highest response score and 0 being the lowest. The authors evaluated response using a dichotomous (=7 is \"responder\" and < 7 is \"non-responder\") and a continuous phenotype (0-10). This SNP was found to be associated with improved response to lithium using the continuous phenotype but not the dichotomous phenotype measure. The association was confirmed in an independent prospective study of 73 patients. This is one of four SNPs in LD that show association (rs79663003, rs78015114, rs74795342, rs75222709).","sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811783,"variant_haplotypes":"rs563649","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and any individual item or total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is not associated with response to ethanol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1184747519,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"atazanavir, ritonavir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":"atazanavir boosted with ritonavir","sentence":"Genotypes CC + CT is not associated with increased discontinuation of atazanavir and ritonavir in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874608,"variant_haplotypes":"rs34946978","gene":"UGT1A1","drugs":"clozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In the model adjusted for clinical predictors of clozapine concentration, including smoking status and cumulative dose of clozapine, five SNPs (rs28371726 and rs202102799 in CYP2D6; rs4148323 and rs34946978 in UGT1A1; and rs2011404 in UGT1A4) showed significant associations with clozapine concentration. The rs number for each SNP associated with clozapine concentration is shown in Table 3.\" Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and decreased concentration (beta value in table is negative).","sentence":"Allele T is associated with decreased concentrations of clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7089776","article_title":"Use of Pharmacogenetic Data to Guide Individualized Opioid Prescribing After Surgery","article_path":"articles/PMC7089776.md","variant_annotation_id":1451117080,"variant_haplotypes":"CYP2D6 normal metabolizers","gene":"CYP2D6","drugs":"opioids","pmid":31320226,"phenotype_category":"Efficacy","significance":"no","notes":"Patients with a NM phenotype had higher pain scores and opioid consumption following surgical procedures than patients with an IM phenotype. NMs also reported the least satisfaction with pain control following surgery, however, none of these association reached statistical significance. Note that the paper does not state exactly which opioids were used by patients in the study and also assigns an \"intermediate to normal metabolizer\" phenotype (AS 1.3-1.5). Based on the CPIC genotype to phenotype translation project, these patients would be assigned as NMs.","sentence":"CYP2D6 normal metabolizer is associated with decreased response to opioids in people with Pain, Postoperative as compared to CYP2D6 intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer"} -{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752025,"variant_haplotypes":"rs4364871","gene":"CTPS1","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CT + TT is associated with decreased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC8132880","article_title":"First genome-wide association study on rocuronium dose requirements shows association with SLCO1A2","article_path":"articles/PMC8132880.md","variant_annotation_id":1451404160,"variant_haplotypes":"rs7967354","gene":"SLCO1A2","drugs":"rocuronium","pmid":33676726,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Although this association is significant on its own, the authors state that the decrease in dosage requirements is best explained by the combination of the CC genotype at this position with the CC genotype at rs11045995.","sentence":"Genotype CC is associated with decreased dose of rocuronium in women as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567630,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with decreased dose of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675769,"variant_haplotypes":"rs465646","gene":"REV3L","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP not significantly associated with event-free survival (p = 0.601) or overall survival (p = 0.335), as determined by recurrence or death, with mean follow-up time of 143 months.","sentence":"Genotypes AG + GG are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC8137991","article_title":"Effects of a Common Eight Base Pairs Duplication at the Exon 7-Intron 7 Junction on Splicing, Expression, and Function of OCT1","article_path":"articles/PMC8137991.md","variant_annotation_id":1452527520,"variant_haplotypes":"rs1349294037","gene":"SLC22A1","drugs":"sumatriptan","pmid":34025422,"phenotype_category":"Other","significance":"not stated","notes":"\"The AUC of sumatriptan was slightly increased in homozygous rs35854239 duplication allele carriers compared to the wild-type (means of 7187 vs. 6277 min \u00d7 ng/ ml, respectively, Figure 7A). However, this increase was not significant and was on average by 14% compared to the observed 127% increase in poor OCT1 transporters (homozygous or compound heterozygous carriers of the coding variants Arg61Cys, Gly401Ser, Gly465Arg) observed in the same study.\" rs35854239 was retired by dbSNP. Authors also described two other rs numbers for this indel (rs113569197 or rs36056065) also retired. We mapped this to 3 possible dbSNP identifiers that all represent indels near the end of exon 7, rs1349294037, rs755473306 and rs2114790299 but none seems to represent exactly the variants depicted in figure 1.","sentence":"Genotype TAAGTTGT/TAAGTTGT is associated with increased concentrations of sumatriptan as compared to genotype del/del.","alleles":"TAAGTTGT/TAAGTTGT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del/del","comparison_metabolizer_types":null} -{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695465,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis.","sentence":"Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7674153","article_title":"Association of MICA-129Met/Val polymorphism with clinical outcome of anti-TNF therapy and MICA serum levels in patients with rheumatoid arthritis","article_path":"articles/PMC7674153.md","variant_annotation_id":1451411069,"variant_haplotypes":"rs1051792","gene":"MICA","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":32123296,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was significant at 3 months following treatment initiation, but significance was lost at the 6 month timepoint.","sentence":"Genotype AG is associated with increased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566637,"variant_haplotypes":"rs1229967","gene":"ADH1A","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10452379","article_title":"Novel Gene Polymorphisms for Stable Warfarin Dose in a Korean Population: Genome-Wide Association Study","article_path":"articles/PMC10452379.md","variant_annotation_id":1452221244,"variant_haplotypes":"rs1890109","gene":"FAM201A","drugs":"warfarin","pmid":37626805,"phenotype_category":"Dosage","significance":"yes","notes":"in univariate analysis of patients on stable dose. \"The VKORC1 rs9934438 allelic variation was the most influential, explaining 33.0% of dose variability, followed by FRAS1 rs4386623 at 9.9% and FAM201A rs1890109 at 4.0%.\"","sentence":"Genotypes AG + GG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6179259","article_title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","article_path":"articles/PMC6179259.md","variant_annotation_id":1449748074,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"atorvastatin","pmid":30304062,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. A statistically significant association was seen between genotype and change in c-Non-HDL levels, but no significant association was seen between genotype and change in c-LDL or c-HDL levels.","sentence":"Genotype GG is associated with decreased response to atorvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238707,"variant_haplotypes":"rs2278773","gene":"PRKCE","drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to perphenazine in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147601,"variant_haplotypes":"rs10264272","gene":"CYP3A5","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the C allele. The C allele is also referred to in the paper as the CYP3A5*6 allele.","sentence":"Allele T is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5862636","article_title":"Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans","article_path":"articles/PMC5862636.md","variant_annotation_id":1448573185,"variant_haplotypes":"rs4889606","gene":"STX1B","drugs":"warfarin","pmid":28135054,"phenotype_category":"Dosage","significance":"yes","notes":"in African american patients even after conditioning on VKORC1 -1639G>A (rs9923231) variant. \"Inclusion of rs4889606 genotypes, along with CYP2C9 alleles, rs9923231 genotypes, and clinical variables explained 31% of the interpatient variability in warfarin dose requirement.\" \"The daily warfarin dose was significantly different among the three genotypes of rs4889606 with carriers of the AG or GG genotypes requiring higher doses (6.8 \u00b13.1 mg/day and 7.6 \u00b13.9 mg/day, respectively) compared to AA carriers in the Discovery (\u00df = 1.1; 95%CI = 0.46 \u2013 1.8, p = 0.0009)\".","sentence":"Genotypes AG + GG are associated with increased dose of warfarin as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121724,"variant_haplotypes":"rs2234918","gene":"OPRD1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele T is not associated with response to oxycodone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757065,"variant_haplotypes":"rs1415774","gene":"PROCR","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822083,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":26042510,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and tobacco consumption.","sentence":"Genotypes AG + GG are not associated with dose of nicotine as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896021,"variant_haplotypes":"rs2453488","gene":"RND1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5203947","article_title":"Exploring the multifactorial nature of postoperative nausea and vomiting in women following surgery for breast cancer","article_path":"articles/PMC5203947.md","variant_annotation_id":1451221008,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"opioids","pmid":27729204,"phenotype_category":"Dosage","significance":"yes","notes":"G allele is referred to as the 'Val' allele in the paper. Patients with the GG genotype had significantly increased opioid consumption, as measured in morphine equivalents, compared to AA or AG patients.","sentence":"Genotype GG is associated with increased dose of opioids in women with Breast Neoplasms and Pain, Postoperative as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"\"Other:Breast Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121020,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA or AG genotypes had a decreased subjective 'High Quality' response to oxycodone than subjects with the GG genotype. Authors note that this was an interaction with rs6848893. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AG are associated with decreased response to oxycodone as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC1874463","article_title":"Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism","article_path":"articles/PMC1874463.md","variant_annotation_id":769278040,"variant_haplotypes":"rs28399468","gene":"CYP2A6","drugs":"nicotine","pmid":12445030,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"This SNP is in the CYP2A6*8 and *10 allele. Individuals with *4, *7, *10 alleles had impaired nicotine metabolism in this study. Statistics compared metabolism levels in Japanese and Korean subjects, rather than this allele compared to wildtype.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046469,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele C is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11605493","article_title":"Genetic polymorphisms to identify patients with an optimal response to tildrakizumab in psoriasis patients from real\u2010life clinical practice","article_path":"articles/PMC11605493.md","variant_annotation_id":1452554432,"variant_haplotypes":"rs10556657","gene":"PDE4D","drugs":"tildrakizumab","pmid":39081053,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Our data also suggest that patients carrying the genotype GG for rs610604 (TNFAIP3), CTGT/\u2212 for rs72167053 (PDE4D) and CT for rs9373839 (ATG5) had a higher probability to not achieve PASI \u22641 after 12\u2009months of tildrakizumab treatment, while those with CT for rs708567 (IL17RC) have a higher chance to have an optimal response to this treatment.\" rs10556657 is new identifier for rs72167053 (PDE4D) Tables 2and 3 and figure 1 show it is the homozygous deletion that is associated with risk of treatment non-response rather than heterozygotes.","sentence":"Genotype CT/CT is associated with decreased clinical benefit to tildrakizumab in people with Psoriasis as compared to genotypes CT/CTGTCT + CTGTCT/CTGTCT.","alleles":"CT/CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT/CTGTCT + CTGTCT/CTGTCT","comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407460,"variant_haplotypes":"rs1051660","gene":"OPRK1","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele A is not associated with response to morphine in healthy individuals as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166082,"variant_haplotypes":"rs12409352","gene":"PIGM","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3462355","article_title":"G PROTEIN RECEPTOR KINASE 4 (GRK4) POLYMORPHISMS: BETA-BLOCKER PHARMACOGENETICS AND TREATMENT RELATED OUTCOMES IN HYPERTENSION","article_path":"articles/PMC3462355.md","variant_annotation_id":981345462,"variant_haplotypes":"rs1801058","gene":"GRK4","drugs":"atenolol","pmid":22949529,"phenotype_category":"Efficacy","significance":"no","notes":"This was described as a trend but not significant.","sentence":"Allele T is associated with decreased response to atenolol in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146187,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10139129","article_title":"Genetic Polymorphisms of ENPP2 Are Possibly Associated with Pain Severity and Opioid Dose Requirements in Patients with Inflammatory Pain Conditions: Clinical Observation Study","article_path":"articles/PMC10139129.md","variant_annotation_id":1452087720,"variant_haplotypes":"rs7832704","gene":"ENPP2","drugs":"opioids","pmid":37108150,"phenotype_category":"Dosage","significance":"yes","notes":"authors describe for minor allele, all sources in ALFA give A as minor allele and G as major allele. It was also significant in the allelic model. This was not significant for dosage in the cancer pain intensity cohort.","sentence":"Genotype AA is associated with increased dose of opioids in people with Pain, Postoperative as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726112,"variant_haplotypes":"rs4725434","gene":"PRKAG2","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs4725434 as top SNP for PRKAG2","sentence":"Allele T is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11887086","article_title":"Valproic acid levels in neurodevelopmental disorders: correlation with CYP and SULT genes using LC-MS/MS","article_path":"articles/PMC11887086.md","variant_annotation_id":1453070000,"variant_haplotypes":"CYP2D6*4, CYP2D6*10","gene":"CYP2D6","drugs":"valproic acid","pmid":40055599,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"No significant correlation was observed between VPA plasma concentrations and genotypes of SULT1A1 (p\u2009=\u20090.522), CYP2C192 (p\u2009=\u20090.288), CYP2D64 (p\u2009=\u20090.895), or CYP2D6*10 (p\u2009=\u20090.067).\" There was one individual with *10 who also carried *4 and had \"Slightly high\" TDM concentrations. One other individual was heterozygous *4 (also CYP2C19*2) and had toxic TDM concentrations.","sentence":"CYP2D6 *4 + *10 is not associated with increased concentrations of valproic acid in people with Autism or Intellectual Disability.","alleles":"*4 + *10","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Autism, Other:Intellectual Disability","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10995391","article_title":"Effect of NAT2, GSTM1 and CYP2E1 genetic polymorphisms on plasma concentration of isoniazid and its metabolites in patients with tuberculosis, and the assessment of exposure-response relationships","article_path":"articles/PMC10995391.md","variant_annotation_id":1452443320,"variant_haplotypes":"GSTM1 non-null, GSTM1 null","gene":"GSTM1","drugs":"isoniazid","pmid":38584604,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"None of pharmacokinetic parameters differed; significantly between GSTM1-plus and -null genotypes.\"","sentence":"GSTM1 null is not associated with increased concentrations of isoniazid in people with Tuberculosis as compared to GSTM1 non-null.","alleles":null,"specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"non-null","comparison_metabolizer_types":null} -{"pmcid":"PMC7649675","article_title":"Pharmacogenetics of TNF inhibitor\u00a0response in rheumatoid arthritis utilizing the two-component disease activity score","article_path":"articles/PMC7649675.md","variant_annotation_id":1451293800,"variant_haplotypes":"rs885814","gene":"ALPL","drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":33124499,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in 2C-DAS28. Table 2 shows change was a positive value for this variant suggesting increased 2C-DAS28 and less response, it was not attributed to a particular allele at this rs number location so assumed minor allele based on dbSNP frequencies.","sentence":"Allele T is associated with decreased response to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1184886873,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2014902","article_title":"Formation of omeprazole sulphone but not 5-hydroxyomeprazole is inhibited by grapefruit juice","article_path":"articles/PMC2014902.md","variant_annotation_id":1450807931,"variant_haplotypes":"CYP2C19 poor metabolizers","gene":"CYP2C19","drugs":"omeprazole","pmid":10671908,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were poor metabolizers (n=2) had a mean AUC that was ~5X higher as compared to extensive metabolizers (n=11).","sentence":"CYP2C19 poor metabolizer is associated with decreased metabolism of omeprazole in healthy individuals as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3195031","article_title":"Population Pharmacokinetic/Pharmacogenetic Model for Optimization of Efavirenz Therapy in Caucasian HIV-Infected Patients","article_path":"articles/PMC3195031.md","variant_annotation_id":1448994017,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":21896912,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2B6 *1/*6 + *6/*6 are associated with increased concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*1/*6 + *6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10557961","article_title":"Influence of CYP450 Enzymes and ABCB1 Polymorphisms on Clopidogrel Response in Moroccan Patients with Acute Coronary Syndromes","article_path":"articles/PMC10557961.md","variant_annotation_id":1452272020,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"clopidogrel","pmid":37810546,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Genotype distribution of the ABCB1 C3435T variant was marginally significant between the two groups of patients (P = 0.057), the frequency of the T allele in Clopidogrel non-responders was higher than in the responders (15/19; 78.9%) and (19/36; 52.8%) respectively.\" \"Patients were subdivided into clopidogrel responder (PRU\u2264208) and clopidogrel non-responder group (PRU>208), 19 patients (34.55%) were clopidogrel non-responders, whereas 36 patients (65.45%) were clopidogrel responders. \"","sentence":"Allele A is associated with increased response to clopidogrel in people with Acute coronary syndrome as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Acute coronary syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2855513","article_title":"RRM1 single nucleotide polymorphism -37C\u2192A correlates with progression-free survival in NSCLC patients after gemcitabine-based chemotherapy","article_path":"articles/PMC2855513.md","variant_annotation_id":1184175245,"variant_haplotypes":"rs12806698","gene":"RRM1","drugs":"carboplatin, gemcitabine","pmid":20226083,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AC genotype had the longest duration of progression free survival (30.7 weeks) compared to patients with the AA (24.7 weeks) or CC (23.3 weeks) genotypes. There was no difference in \"chemotherapy response\" between groups. Chemotherapy response was classified as either partial response (PD), stable disease (SD), or progressive disease (PD).","sentence":"Genotype AC is associated with increased response to carboplatin and gemcitabine in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes AA + CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2810514","article_title":"Interleukin-6 (IL-6) haplotypes and the response to therapy of chronic hepatitis C virus infection","article_path":"articles/PMC2810514.md","variant_annotation_id":981861811,"variant_haplotypes":"rs1800795","gene":"IL6","drugs":"peginterferon alfa-2a","pmid":19387461,"phenotype_category":"Efficacy","significance":"yes","notes":"This association is as part of a haplotype which also includes rs1800797G and rs1800796G. This is a GC SNP so the listed associated allele may be incorrect.","sentence":"Allele G is associated with decreased response to peginterferon alfa-2a in people with Hepatitis C, Chronic as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238777,"variant_haplotypes":"rs3738883","gene":"TMEFF2","drugs":"risperidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: reported allele was C, this has been complemented to the plus chromosomal strand. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to risperidone in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10668502","article_title":"Impact of IL6R genetic variants on treatment efficacy and toxicity response to sarilumab in rheumatoid arthritis","article_path":"articles/PMC10668502.md","variant_annotation_id":1452308820,"variant_haplotypes":"rs4329505","gene":"IL6R","drugs":"sarilumab","pmid":38001504,"phenotype_category":"Efficacy","significance":"yes","notes":"\"For rs4329505 and rs11265618, the genetic model that best fit the data was the dominant model, as patients homozygous for the wild-type allele (TT for rs4329505 and CC for rs11265618) showed better remission rates than the other patients; specifically, remission rates (CDAI-LDA) were 73.5% vs. 44.4% (p\u2009=\u20090.039) and the quantitative improvement in DAS28 was 2.9 vs. 2.0 (p\u2009=\u20090.048). No significant differences were found for DAS28 LDA, CDAI improvement, and/or EULAR response rates.\" \"A linked inheritance was observed between rs4329505 and rs11265618, as all individuals carrying the T allele for rs4329505 also had the C allele for rs11265618, and vice versa. \"","sentence":"Genotype TT is associated with increased response to sarilumab in people with Arthritis, Rheumatoid as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146192,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310590,"variant_haplotypes":"rs3832043","gene":"UGT1A10, UGT1A8, UGT1A9","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele del is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele T.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157205,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele C is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511088,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of GG, AG and AA did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705514,"variant_haplotypes":"rs8105790","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes CC + CT is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10848431","article_title":"Effects of CYP3A4*22 and POR*28 variations on the pharmacokinetics of tacrolimus in renal transplant recipients: a meta-analysis of 18 observational studies","article_path":"articles/PMC10848431.md","variant_annotation_id":1452376460,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":38321419,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Similarly, for recipients at 3 days (SMD\u2009=\u2009-0.35, 95% CI: -0.65 to -0.06, I2\u2009=\u20090.0%), 1 month (SMD\u2009=\u2009-0.67, 95% CI: -1.16 to -0.18, I2\u2009=\u200957.8%), 3 months (SMD\u2009=\u2009-0.60, 95% CI: -0.89 to -0.31, I2\u2009=\u20090.4%), 6 months (SMD\u2009=\u2009-0.76, 95% CI: -1.49 to -0.04, I2\u2009=\u200978.7%), or 12 months (SMD\u2009=\u2009-0.69, 95% CI: -1.37 to 0.00, I2\u2009=\u200976.8%) post-transplantation, a significantly lower C0/Dose was observed in CYP3A4*1/*1 carriers compared to CYP3A4*22 carriers (Fig. 2B).\"","sentence":"CYP3A4 *22 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694886,"variant_haplotypes":"rs2266637","gene":"GSTT1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":"Please note: the alleles reported here are complemented to the + chromosomal strand.","sentence":"Allele C is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10152845","article_title":"Genetic Polymorphisms in ERCC1 Gene and Their Association with Response to Radiotherapy in Moroccan Patients with Nasopharyngeal Carcinoma","article_path":"articles/PMC10152845.md","variant_annotation_id":1452000960,"variant_haplotypes":"rs11615","gene":"ERCC1","drugs":"radiotherapy","pmid":36708557,"phenotype_category":"Efficacy","significance":"no","notes":"\"For C118T SNP, CT genotype prevails in radioresistant cases (60.4%, 32/53) and TT in radiosensitive; cases (62.5%, 5/8). A borderline significance was obtained between ERCC1 C118T polymorphism genotypes and; radio-resistance status (p=0.07). Similarly, a borderline; association was found between radio-resistance status; and allelic frequency (p=0.091), as T allele prevails in; radiosensitive cases.\" Alleles complemented.","sentence":"Allele A is not associated with resistance to radiotherapy in people with Nasopharyngeal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3984266","article_title":"Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer","article_path":"articles/PMC3984266.md","variant_annotation_id":1446895503,"variant_haplotypes":"rs7013278","gene":null,"drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":24727911,"phenotype_category":"Efficacy","significance":"no","notes":"SNPs were investigated for their effects on response rate, time to progression and overall survival. After accounting for multiple testing there was no association with any SNPs and outcomes of patients with metastatic colorectal cancer.","sentence":"Allele T is not associated with response to fluorouracil, irinotecan and oxaliplatin in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713634,"variant_haplotypes":"rs2070096","gene":"BARD1","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"yes","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival. The paper uses the G allele as the reference allele for this SNP, therefore we have assumed that the authors are referring to the negative strand. As a result, we have complemented the alleles to the positive strand.","sentence":"Allele A is associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003652,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3633658","article_title":"Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration (AMD) in the Comparison of AMD Treatments Trials (CATT)","article_path":"articles/PMC3633658.md","variant_annotation_id":1183491605,"variant_haplotypes":"rs2230199","gene":"C3","drugs":"bevacizumab, ranibizumab","pmid":23337555,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in mean visual acuity (units = letters), mean visual acuity change from baseline (units = letters), >= 15-letter increase from baseline (%), mean number of injections, retinal thickness (%, units = um), mean change in total foveal thickness from baseline (units = um), dry on optical coherence tomography (%), leakage on fluorescein angiography (%) or mean change in lesion size from baseline (units = disc area) after 1 year of treatment were seen between genotypes. p <= 0.01 was considered statistically significant to adjust for multiple comparisons.","sentence":"Genotype GG is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133740,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in improvement in pain scores between genotype groups.","sentence":"Allele A is not associated with response to morphine and nortriptyline in people with Pain as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4778608","article_title":"Cyclophosphamide pharmacokinetics and pharmacogenetics in children with B-cell non-Hodgkin's lymphoma","article_path":"articles/PMC4778608.md","variant_annotation_id":1447678899,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26773420,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"but there was no effect on progression-free survival.","sentence":"CYP2B6 *6 is associated with decreased clearance of cyclophosphamide in children with Lymphoma, B-Cell as compared to CYP2B6 *1/*1.","alleles":"*6","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Lymphoma, B-Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6800829","article_title":"Impact of SLCO1B3 Polymorphisms on Clinical Outcomes in Lung Allograft Recipients Receiving Mycophenolic Acid","article_path":"articles/PMC6800829.md","variant_annotation_id":1451101326,"variant_haplotypes":"rs2741049","gene":"UGT1A9","drugs":"azathioprine, mycophenolic acid","pmid":30992538,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and survival post-transplantation or development of acute cellular rejection, lymphocytic bronchiolitis or chronic lung allograft dysfunction (CLAD).","sentence":"Allele T is not associated with response to azathioprine or mycophenolic acid in people with lung transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4272010","article_title":"Novel Sequence Variations in the Brain-Derived Neurotrophic Factor Gene and Association with Major Depression and Antidepressant Treatment Response","article_path":"articles/PMC4272010.md","variant_annotation_id":655387194,"variant_haplotypes":"rs61888800","gene":"BDNF","drugs":"antidepressants, desipramine, fluoxetine","pmid":19414708,"phenotype_category":"Efficacy","significance":"not stated","notes":"Outcome with the two drugs was combined for analysis. Not found to be associated with remission vs non-remission. Found to be associated with reduction in HAM-D21 score after adjusting for age, sex, medication, and; baseline HAM-D21 score.","sentence":"Genotype GG is associated with increased response to antidepressants, desipramine and fluoxetine in people with Depressive Disorder, Major.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574520,"variant_haplotypes":"rs2008584","gene":"UGT1A3","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\" The UGT1A3 rs2008584 A/A genotype was associated with lower tmax than the UGT1A3 rs2008584 A/G genotype (puv = 0.014). \"","sentence":"Genotype AA is associated with decreased half-life time of mirabegron in healthy individuals as compared to genotype AG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603549,"variant_haplotypes":"rs1800896","gene":"IL10","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the TT genotype had higher dose-adjusted trough concentrations of tacrolimus at weeks 1 (p=0.027) and 2 (p=0.034) post-transplant as compared to the CT genotype; no significant results were seen at weeks 3 (p=0.24) or 4 (p=0.24). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with increased dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109696,"variant_haplotypes":"rs28371685","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele C is associated with dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2485247","article_title":"Impact of CYP3A5 genetic polymorphism on pharmacokinetics of tacrolimus in healthy Japanese subjects","article_path":"articles/PMC2485247.md","variant_annotation_id":1184515184,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":18341670,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects with the CYP3A5*3/*3 genotype had a 1.8 times higher AUC than subjects who were carriers of the CYP3A5*1 allele. Of note, this study did not determine the proportion of CYP3A5*1/*3 or CYP3A5*1/*1 genotypes. These were referred collectively as \"CYP3A5*1 carriers\". In addition, subjects who were CYP3A5*1 carriers had 1.5 times higher clearance (Cl/F) than subjects with the CYP3A5*3/*3 genotype.","sentence":"Genotype CC is associated with decreased clearance of tacrolimus in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8578190","article_title":"Pharmacogenetics of Interaction between Depot Medroxyprogesterone Acetate and Efavirenz, Rifampicin and Isoniazid during Treatment of HIV and Tuberculosis","article_path":"articles/PMC8578190.md","variant_annotation_id":1451931240,"variant_haplotypes":"CYP2B6 poor metabolizer","gene":"CYP2B6","drugs":"medroxyprogesterone","pmid":34369424,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant associations between CYP2B6 metabolizer status and any primary pharmacokinetic parameter for medroxyprogesterone acetate. Patients also receiving efavirenz-based ART and rifampicin plus isoniazid for treatment. CYP2B6 phenotype determine based on 516G\u2192T (rs3745274), 983T\u2192C (rs28399499), and 15582C\u2192T (rs4803419) with normal metabolizer (1: 15582CC-516GG-983TT or 2: 15582CT-516GG-983TT); intermediate metabolizer (3: 15582TT-516GG-983TT; 4: 15582CC-516GT-983TT; 5: 15582CC-516GG-983CT; 6: 15582CT-516GT-983TT; or 7: 15582CT-516GG-983CT); and poor metabolizer (8: 15582CC-516TT-983TT; 9: 15582CC-516GT-983CT; 10: 15582CC-516GG-983CC","sentence":"CYP2B6 poor metabolizer is not associated with metabolism of medroxyprogesterone in women with HIV Infections and Tuberculosis as compared to CYP2B6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5659294","article_title":"Comprehensive assessment of cytochromes P450 and transporter genetics with endoxifen concentration during tamoxifen treatment","article_path":"articles/PMC5659294.md","variant_annotation_id":1448994296,"variant_haplotypes":"CYP2C9 poor metabolizers","gene":"CYP2C9","drugs":"endoxifen","pmid":28877533,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"An increase the steady-state endoxifen concentration was found for patients with increased CYP2C9 phenotype activity. After adjustment for CYP2D6 diplotype, weight, and season the association remained significant. Endoxifen concentration 2C9 PM: 6.26 ng/ml, 2C9 IM: 7.18 ng/ml, 2C9 NM: 8.29 ng/ml.","sentence":"CYP2C9 poor metabolizer is associated with decreased concentrations of endoxifen as compared to CYP2C9 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2686066","article_title":"Pharmacokinetic\u2013 pharmacodynamic analysis of the role of CYP2C19 genotypes in short-term rabeprazole-based triple therapy against Helicobacter pylori","article_path":"articles/PMC2686066.md","variant_annotation_id":1183624311,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"rabeprazole","pmid":19552744,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects were treated with rabeprazole for 7 days, and also received amoxicillin and clarithromycin.","sentence":"CYP2C19 *2/*2 + *2/*3 is associated with decreased clearance of rabeprazole in people with Helicobacter Infections as compared to CYP2C19 *1/*1 + *1/*2 + *1/*3.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC6387687","article_title":"Carfilzomib and lenalidomide response related to VEGF and VEGFR2 germline polymorphisms","article_path":"articles/PMC6387687.md","variant_annotation_id":1448634657,"variant_haplotypes":"rs2305948","gene":"KDR","drugs":"carfilzomib, dexamethasone, lenalidomide","pmid":28488026,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors indicate repose as CR/nCR/sCR but do not define these and non-response as VGPR and PR/SD (which assume to mean progression/stable disease). There was only one TT individual who had sCR.","sentence":"Genotypes CT + TT is associated with increased response to carfilzomib, dexamethasone and lenalidomide in people with Multiple Myeloma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Multiple Myeloma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5524513","article_title":"CYP2B6 516G>T Minor Allele Protective of Late Virologic Failure in Efavirenz-treated HIV-Infected Patients in Botswana","article_path":"articles/PMC5524513.md","variant_annotation_id":1448617505,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":28481785,"phenotype_category":"Efficacy","significance":"yes","notes":"CYPB2B6 516 T-allele was protective against late virologic failure in patients with initial (6 month) HIV RNA suppression on EFV-based ART.","sentence":"Genotypes GT + TT are associated with decreased resistance to efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166070,"variant_haplotypes":"rs17712523","gene":"CDH23","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896187,"variant_haplotypes":"rs4236420","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729214,"variant_haplotypes":"rs56156262","gene":"CYP2B6","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2928561","article_title":"A polymorphism in the VKORC1-regulator calumenin predicts higher warfarin doses in African-Americans","article_path":"articles/PMC2928561.md","variant_annotation_id":608431797,"variant_haplotypes":"rs339097","gene":"CALU","drugs":"warfarin","pmid":20200517,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with increased dose of warfarin.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8222836","article_title":"Genetic variants related to successful migraine prophylaxis with verapamil","article_path":"articles/PMC8222836.md","variant_annotation_id":1452311820,"variant_haplotypes":"rs2230433","gene":"ITGAL","drugs":"verapamil","pmid":33829662,"phenotype_category":"Efficacy","significance":"yes","notes":"\"There are 3 highly significant SNPs (p\u2010value < 0.008) in both the arithmetic and percentage change models: rs2230433 within the Integrin Subunit Alpha L gene (ITGAL) [OMIM#153370], rs17844444 in Protocadherin Beta 6 gene (PCDHB6) [OMIM#606332] and rs3733694 in Protocadherin Beta 7 gene (PCDHB7) [OMIM#606333]. The minor allele of rs2230433 was associated with a mean reduction in headache days of about 20%.\"","sentence":"Allele C is associated with increased clinical benefit to verapamil in people with Migraine NOS as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694872,"variant_haplotypes":"rs854560","gene":"PON1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele A is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811595,"variant_haplotypes":"rs6949448","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11095822","article_title":"An Unusual Presentation of Succinic Semialdehyde Dehydrogenase Deficiency: A Fatal Case of Severe Progressive Seizures in a Four-Month-Old Infant","article_path":"articles/PMC11095822.md","variant_annotation_id":1452479840,"variant_haplotypes":"rs72552282","gene":"ALDH5A1","drugs":"antiepileptics, levetiracetam, phenytoin, valproic acid","pmid":38752093,"phenotype_category":"Efficacy","significance":"no","notes":"\"Here we describe an unusual presentation of a four-month-old female patient diagnosed with SSADH deficiency who presented with severe progressive seizure leading to the death of the patient.\" \"Whole exome sequencing was done from the blood sample. It showed a homozygous mutation G->A substitution at chr6:24505155. Akaboshi et al. predicted this mutation to cause an abnormal protein translation of the ALDH5A1 protein at amino acid position 223 \"","sentence":"Genotype AA is associated with increased resistance to antiepileptics, levetiracetam, phenytoin and valproic acid in children Epilepsy, Infant and Metabolism, Inborn Errors.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in children","population_phenotypes_or_diseases":"\"Other:Epilepsy\", \"Other:Infant\", \"Other:Metabolism, Inborn Errors\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2886925","article_title":"The Influence of CYP2C19 Polymorphism on Eradication of Helicobacter pylori: A Prospective Randomized Study of Lansoprazole and Rabeprazole","article_path":"articles/PMC2886925.md","variant_annotation_id":1183680098,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"rabeprazole","pmid":20559522,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to the *1/*2 or *1/*3 genotype, or the *2/*2, *2/*3 or *3/*3 genotype. No significant differences in percent eradication rate of Helicobacter pylori (H. pylori) were seen between any of the genotype groups. Patients were also given amoxicillin and clarithromycin, and were treated for 1 week. Please note these genotypes were referred to by their previous designations of m1 (*2) and m2 (*3).","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in people with Helicobacter Infections.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5655282","article_title":"Tacrolimus dose requirement based on the CYP3A5 genotype in renal transplant patients","article_path":"articles/PMC5655282.md","variant_annotation_id":1449147673,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":29113387,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the CT or TT genotype need a higher dose of tacrolimus to achieve target blood concentrations as compared to those with the CC genotype. The authors note that patients with the CC genotype were significantly younger as compared to those with the CT or TT genotype (p=0.0011). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":1450980540,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"With *1/*2 (CT) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA\"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs2884737, rs9934438, rs8050894, and rs2359612 to define HaplotypeA.","sentence":"Genotype TT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4876172","article_title":"Absence of ethnic differences in the pharmacokinetics of moxifloxacin, simvastatin, and meloxicam among three East Asian populations and Caucasians","article_path":"articles/PMC4876172.md","variant_annotation_id":1451092564,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"meloxicam","pmid":26774055,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C9 *1/*3 + *2/*2 are associated with decreased metabolism of meloxicam in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511060,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of CC, TC and TT did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874820,"variant_haplotypes":"CYP1A2 ultrarapid metabolizer","gene":"CYP1A2","drugs":"clozapine, n-desmethylclozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP1A2 phenotypes were significantly associated with the metabolic ratio (clozapine/NDMC ratio) (p\u2009=\u20090.006, Mann\u2013Whitney U test) at visit 4, with higher metabolic ratios in NMs (n\u2009=\u200914) than that in UMs (n\u2009=\u200926) (S1 Fig).\" Paper uses old nomenclature for CYP1A2 \"Of the 45 enrolled patients, 17 were normal metabolizers (NMs) of CYP1A2 (*1A/\u2009*\u20091A, *\u20091C\u2009*\u20091F/\u2009*\u20091C\u2009*\u20091F, *\u20091C/\u2009*\u20091F, or *\u20091A/\u2009*\u20091C\u2009*\u20091F), while 28 were ultrarapid metabolizers (UMs) (*1F/\u2009*\u20091F, *\u20091F/\u2009*\u20091C\u2009*\u20091F, or *\u20091A/\u2009*\u20091F).\" \"CYP1A2 phenotypes were determined by a combination of two SNPs, namely rs2069514 (c.-3860G\u2009>\u2009A) and rs762551 (c.-9-154C\u2009>\u2009A).\"","sentence":"CYP1A2 ultrarapid metabolizer is associated with decreased concentrations of clozapine and n-desmethylclozapine in people with Schizophrenia or Psychotic Disorder as compared to CYP1A2 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC6647927","article_title":"Influence of (ATP)-Binding Cassette Transporter Subfamily B Member 1 (ABCB1) Gene Polymorphism on the Efficacy of Remifentanil","article_path":"articles/PMC6647927.md","variant_annotation_id":1451118687,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"remifentanil","pmid":31346154,"phenotype_category":"Dosage","significance":"no","notes":"No significant different in remifentanil consumption between patients with the AG or AA genotypes, or between patients with the AG or GG genotypes.","sentence":"Genotype AG is not associated with dose of remifentanil as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11855146","article_title":"Genetic Variants of SLC22A1 rs628031 and rs622342 and Glycemic Control in T2DM Patients from Northern Mexico","article_path":"articles/PMC11855146.md","variant_annotation_id":1452867520,"variant_haplotypes":"rs628031","gene":"SLC22A1","drugs":"metformin","pmid":40004467,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Carriers of at least one minor allele of A-rs628031 and C-rs622342 had lower HbA1c values than individuals homozygous for the major allele in both genes.\"","sentence":"Genotypes AA + AG is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557915,"variant_haplotypes":"rs12995526","gene":"ATIC","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372709,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"Selective serotonin reuptake inhibitors","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"The TT genotype was associated with non-remission, white the GG and GT genotypes were associated with treatment remission at 6 weeks.","sentence":"Genotype TT is associated with decreased response to Selective serotonin reuptake inhibitors in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4972156","article_title":"Pharmacokinetics of lamotrigine and its metabolite N\u20102\u2010glucuronide: Influence of polymorphism of UDP\u2010glucuronosyltransferases and drug transporters","article_path":"articles/PMC4972156.md","variant_annotation_id":1447983624,"variant_haplotypes":"rs7668258","gene":"UGT2B7","drugs":"lamotrigine","pmid":27096250,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was conducted in 100 patients -- 54 receiving monotherapy for lamotrigine, and 46 receiving combination therapy with carbamazepine, oxcarbazepine, valproic acid, phenytoin, phenobarbital, levetiracetam, topiramate, lacosamide, zonisamide, pregabalin, clonazepam, or clobazam. All patients were on stable therapy for at least 2 months. The significant difference in clearance was found between patients with the TT genotype and with the CC genotype, with clearance in patients with the CT genotype not being significantly different than in patients with the CC genotype.","sentence":"Genotype TT is associated with decreased clearance of lamotrigine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3434304","article_title":"Predicting Inhaled Corticosteroid Response in Asthma with Two Associated SNPs","article_path":"articles/PMC3434304.md","variant_annotation_id":827921716,"variant_haplotypes":"rs37973","gene":"GLCCI1","drugs":"glucocorticoids","pmid":22641026,"phenotype_category":"Efficacy","significance":"yes","notes":"as part of a two SNP predictive test of FEV1 change, which identified patients with good or poor steroid response (highest or lowest quartile, respectively). P values are for predictive performance of the test.","sentence":"Allele G is associated with increased response to glucocorticoids in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2925052","article_title":"A genetic determinant of the striatal dopamine response to alcohol in men","article_path":"articles/PMC2925052.md","variant_annotation_id":1450812854,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":20479755,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AG genotype showed significantly increased striatal dopamine release following administration of alcohol compared to AA subjects.","sentence":"Genotype AG is associated with increased response to ethanol in men as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820435,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considering RECIPIENT genotype - those with the CT or TT genotype had decreased concentration/dose ratios as compared to those with the CC genotype at weeks 1 and 2 of treatment. No significant difference was seen at weeks 3 or 4. In multiple linear regression analysis, rs776746 recipient genotype was associated with concentration/dose ratio at week 1 (p=0.001) of treatment. Patients with hepatocellular carcinoma. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are associated with decreased dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472408,"variant_haplotypes":"rs2290228","gene":"CALU","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3396003","article_title":"The Relationship Between Single Nucleotide Polymorphisms in 5-HT2A Signal Transduction-Related Genes and the Response Efficacy to Selective Serotonin Reuptake Inhibitor Treatments in Chinese Patients with Major Depressive Disorder","article_path":"articles/PMC3396003.md","variant_annotation_id":1452039958,"variant_haplotypes":"rs6305","gene":"HTR2A","drugs":"citalopram, paroxetine, sertraline","pmid":22480177,"phenotype_category":"Efficacy","significance":"no","notes":"Response measure with HAMD.","sentence":"Allele A is not associated with response to citalopram, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4448076","article_title":"MHC class I-related chain B gene polymorphism is associated with virological response to pegylated interferon plus ribavirin therapy in patients with chronic hepatitis C infection","article_path":"articles/PMC4448076.md","variant_annotation_id":1444843476,"variant_haplotypes":"rs3828913","gene":"MICB","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26075078,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with MICB major (CC) alleles had higher SVR rate (62.3%) than that of the patients with MICB minor (CA and AA) alleles (27.2%). A multivariate logistic model showed that the MICB major genotype (CC) was an independent factor contributing to SVR (OR, 4.47; 95% CI, 1.46-13.70; P=0.009), similar to the IL28B major genotype (rs8099917).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC9321338","article_title":"Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients","article_path":"articles/PMC9321338.md","variant_annotation_id":1452110364,"variant_haplotypes":"rs6519270","gene":"SNU13","drugs":"vincristine","pmid":35884569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in a subset of study of vincristine-induced peripheral neuropathy with PK measurements. Association is reported for rs6519270 A > C however dbSNP and gnoMAD have this as an A>G variant.","sentence":"Allele G is associated with increased concentrations of vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia, Other:Hodgkin Disease, Other:Rhabdomyosarcoma, Other:Medulloblastoma, Other:Glioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163113,"variant_haplotypes":"rs3213619","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934362,"variant_haplotypes":"rs727505292","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the G allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Ile253Thr.","sentence":"Allele G is associated with increased response to migalastat in people with Fabry Disease.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449165997,"variant_haplotypes":"rs10413455","gene":"ZNF134","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4760888","article_title":"Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European\u2010Americans and Egyptians","article_path":"articles/PMC4760888.md","variant_annotation_id":1447677830,"variant_haplotypes":"rs7856096","gene":"FPGS","drugs":"warfarin","pmid":26751406,"phenotype_category":"Dosage","significance":"no","notes":"in European-Americans, and Egyptians.","sentence":"Genotype AA is not associated with dose of warfarin as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4797547","article_title":"Influence of G-protein \u03b2-Polypeptide 3 C825T Polymorphism on Antihypertensive Response to Telmisartan and Amlodipine in Chinese Patients","article_path":"articles/PMC4797547.md","variant_annotation_id":1447680330,"variant_haplotypes":"rs5443","gene":"GNB3","drugs":"amlodipine","pmid":26712426,"phenotype_category":"Efficacy","significance":"no","notes":"As measured by reduction in diastolic blood pressure","sentence":"Genotype TT is not associated with response to amlodipine in people with Essential hypertension as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC7427977","article_title":"Influence of genetic polymorphisms in homocysteine and lipid metabolism systems on antidepressant drug response","article_path":"articles/PMC7427977.md","variant_annotation_id":1451284760,"variant_haplotypes":"rs405509","gene":"APOE","drugs":"Selective serotonin reuptake inhibitors","pmid":32795354,"phenotype_category":"Efficacy","significance":"yes","notes":"response measured by HDRS-17 score. Patients received SSRI or SNRI but exact drug not specified.","sentence":"Genotype TT is associated with increased response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694834,"variant_haplotypes":"rs662","gene":"PON1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"yes","notes":"Response refers to overall survival (OS). In the Kaplan\u2013Meier analysis of OS genotypes of rs662 were associated with OS. In Cox regression analysis number of lesions as well as s662 genotype were independent predictors of OS. When comparing OS between the CC genotype and TT and CT genotypes there was no significant difference in OS (days) but when comparing between TT and CC only, the difference is significant (p=0.032). Please note: alleles have been complemented to the + strand.","sentence":"Genotype CC is associated with increased response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983310,"variant_haplotypes":"rs10997242","gene":"CTNNA3","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here. Response considered to be successful with a 50% reduction at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele C is associated with decreased response to antidepressants in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4116670","article_title":"OCT1 genetic variants influence the pharmacokinetics of morphine in children","article_path":"articles/PMC4116670.md","variant_annotation_id":1451097520,"variant_haplotypes":"rs34130495","gene":"SLC22A1","drugs":"morphine","pmid":23859569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with two loss of function SLC22A1 alleles (*2 rs72552763 GAT>del, *3 rs12208357C>T, *4 rs34130495 G>A, or *5 rs34059508 G>A) were grouped together and had significantly lower clearance compared to children with the *1/*1 or *1/variant genotype.","sentence":"Genotype AA is associated with decreased clearance of morphine in children with adenotonsillectomy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:adenotonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003375,"variant_haplotypes":"rs2838958","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: AG+GG 0.41 (0.09\u201334.05)) vs. AA (0.59 (0.16\u201341.63)).","sentence":"Genotypes AG + GG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4078496","article_title":"CYP4F2 1347 G>A & GGCX 12970 C>G polymorphisms: frequency in north Indians & their effect on dosing of acenocoumarol oral anticoagulant","article_path":"articles/PMC4078496.md","variant_annotation_id":1444708148,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"acenocoumarol","pmid":24927344,"phenotype_category":"Dosage","significance":"no","notes":"No significant differences in mean weight normalized acenocoumarol doses were found for these CYP4F2 genotypes.","sentence":"Genotypes CT + TT is not associated with dose of acenocoumarol as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163120,"variant_haplotypes":"rs1927907","gene":"TLR4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6357360","article_title":"Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review","article_path":"articles/PMC6357360.md","variant_annotation_id":1450933135,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"opioids","pmid":30704436,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA or AG genotypes reached the lowest pain intensity faster than those with the GG genotype.","sentence":"Genotypes AA + AG are associated with increased response to opioids in children as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4243881","article_title":"Effect of UGT1A1, UGT1A3, DIO1 and DIO2 polymorphisms on L-thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer","article_path":"articles/PMC4243881.md","variant_annotation_id":1184990075,"variant_haplotypes":"rs2235544","gene":"DIO1","drugs":"levothyroxine","pmid":24910925,"phenotype_category":"Dosage","significance":"no","notes":"This SNP was not associated with dose in univariate regression.","sentence":"Allele A is not associated with dose of levothyroxine in people with Thyroid Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Thyroid tumor","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373190,"variant_haplotypes":"rs2236258","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4350512","article_title":"Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate","article_path":"articles/PMC4350512.md","variant_annotation_id":1184988627,"variant_haplotypes":"rs2058878","gene":"GRIN2B","drugs":"acamprosate","pmid":25290263,"phenotype_category":"Efficacy","significance":"yes","notes":"Tag SNPs (518 total) were selected within genes associated with alcoholism as well as genes encoding enzymes involved in glycine metabolism, glycine transporters, subunits of glycine receptors, NMDA receptors, genes involved in glutamate reuptake, synthesis or degradation and genes with reported associations with acamprosate treatment outcomes in human or animal studies. The length of time to first alcohol use \u201csurvival analysis method\u201d was used to examine associations between clinical variables and genetic markers with efficacy of acomprasate (its ability to length the duration of abstinence from alcohol). The analyses were replicated in a subset of 110 participants from PREDICT, a double-blind randomized controlled trial that compared treatment outcomes including length of abstinence among alcohol- dependent subjects of German descent recruited from inpatient facilities and treated with acamprosate, naltrexone or placebo for 3 months. The strongest association finding, was for the A allele at rs2058878 A allele, which remained significantly associated with longer abstinence even after Bonferroni correction for the number of SNPs included in the analyses (P = 4.6 \u00d7 10 - 5, corrected P = 0.024).","sentence":"Allele A is associated with increased response to acamprosate in people with Alcoholism as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4537319","article_title":"Genetic Variation (CHRNA5), Medication (Combination Nicotine Replacement Therapy vs. Varenicline) and Smoking Cessation","article_path":"articles/PMC4537319.md","variant_annotation_id":1450822299,"variant_haplotypes":"rs16969968","gene":"CHRNA3, CHRNA5","drugs":"nicotine","pmid":26142345,"phenotype_category":"Efficacy","significance":"yes","notes":"Participants with the AA or AG genotypes were significantly more likely to respond to nicotine replacement therapy (NRT) than participants with the GG genotype.","sentence":"Genotypes AA + AG are associated with increased response to nicotine in people with Tobacco Use Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11011338","article_title":"Impact of STAT6 Variants on the Response to Proton Pump Inhibitors and Comorbidities in Patients with Eosinophilic Esophagitis","article_path":"articles/PMC11011338.md","variant_annotation_id":1452447180,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"Proton pump inhibitors","pmid":38612496,"phenotype_category":"Efficacy","significance":"no","notes":"as measured by PEC Reduction and EREFS Score Reduction. Alleles complemented (triallelic snp). \"Patients with the STAT6 rs12368672 C/C genotype showed a lower reduction in EREFS score compared to patients with G/C + G/G genotypes (p = 0.011) (Table 5). Furthermore, a higher EREFS score reduction was observed in individuals with ABCB1 rs2032582 T/T+T/G genotypes compared to those with A/A+G/A+G/G genotypes (p = 0.045) (Table 5); none of these differences reached the threshold for statistical significance after the Bonferroni correction for multiple comparisons \"","sentence":"Genotypes AA + AC is associated with increased response to Proton pump inhibitors in people with eosinophilic esophagitis as compared to genotypes CC + CT.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:eosinophilic esophagitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510873,"variant_haplotypes":"UGT1A1*60","gene":"UGT1A1","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"yes","notes":"Those with the *60 allele had a lower objective response rate (52% responders) as compared to those without the * 60 allele (90% responders).","sentence":"UGT1A1 *60 is associated with decreased response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.","alleles":"*60","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3805522","article_title":"Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines","article_path":"articles/PMC3805522.md","variant_annotation_id":1184471949,"variant_haplotypes":"rs75017182","gene":"DPYD","drugs":"capecitabine, fluorouracil","pmid":24167597,"phenotype_category":"Dosage","significance":"yes","notes":"Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. \"Dose\" here refers to dose modification.; Note: the reported parameters for this SNP are really for a haplotype (the authors refer to it as a \"signature\") that includes any minor alleles for the following SNPs: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T).","sentence":"Genotype CG is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype GG.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756088,"variant_haplotypes":"rs8023369","gene":null,"drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4560372","article_title":"Association between CXCL10 and DPP4 Gene Polymorphisms and a Complementary Role for Unfavorable IL28B Genotype in Prediction of Treatment Response in Thai Patients with Chronic Hepatitis C Virus Infection","article_path":"articles/PMC4560372.md","variant_annotation_id":1446904218,"variant_haplotypes":"rs17848916","gene":"DPP4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b","pmid":26339796,"phenotype_category":"Efficacy","significance":"no","notes":"PEG-interferon alfa (2a and b) was co-adminstered with ribavirin. Response was assessed by sustained virological response (SVR) percent by genotype. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AC is not associated with response to peginterferon alfa-2a or peginterferon alfa-2b in people with Hepatitis C, Chronic as compared to genotype AA.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4583245","article_title":"A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism","article_path":"articles/PMC4583245.md","variant_annotation_id":1446903395,"variant_haplotypes":"rs12461964","gene":null,"drugs":"nicotine","pmid":26407342,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The minor allele was independently associated with decreased NMR, indicating decreased rate of nicotine clearance. rs56113850 and rs12461964 were in LD with CYP2A6*2, and esv2663194 (not annotated) was in LD with CYP2A6*9. rs56113850, rs12461964, and esv2663194 emerged as signals independently associated with NMR in GWAS and in conditional analyses. A fourth signal, rs113288603, was not significant in GWAS, but was significant after conditioning on the top associated SNP, rs56113850.","sentence":"Allele A is associated with decreased clearance of nicotine as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114060,"variant_haplotypes":"rs6985606","gene":"OPRK1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2859392","article_title":"Effects of CYP2B6 G516T polymorphisms on plasma efavirenz and nevirapine levels when co-administered with rifampicin in HIV/TB co-infected Thai adults","article_path":"articles/PMC2859392.md","variant_annotation_id":1448993666,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":20338069,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in median CD4 T cell counts of each genotype at different time points was seen in efavirenz group (p = 0.818, 0.838, 0.783, 0.753 and 0.587 for baseline, weeks 12, 24, 36 and 48 of ART, respectively).","sentence":"Genotype TT is not associated with response to efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4345005","article_title":"Effects of GRK5 and ADRB1 polymorphisms influence on systolic heart failure","article_path":"articles/PMC4345005.md","variant_annotation_id":1451868583,"variant_haplotypes":"rs2230345","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":25638254,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Genotype AT is not associated with response to Beta Blocking Agents in people with Heart Failure as compared to genotype AA.","alleles":"AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501792,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Genotypes AA + AG are associated with increased clearance of carbamazepine in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4921119","article_title":"Effects of CYP3A5 polymorphism on the pharmacokinetics of a once-daily modified-release tacrolimus formulation and acute kidney injury in hematopoietic stem cell transplantation","article_path":"articles/PMC4921119.md","variant_annotation_id":1448427598,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":27217047,"phenotype_category":"Dosage","significance":"yes","notes":"Patients were started on tacrolimus continuous infusion and then converted to once-daily oral intake. Intravenous infusion of micafungin was given during the neutropenic phase, then seven days after switching from tacrolimus continuous infusion to once-daily oral intake, antifungal agents were switched from intravenous micafungin to oral azole antifungal agents. Whole blood samples from the patients were collected 4-7 days after switching to once-daily tacrolimus oral dosing and then 4-7 days after switching from intravenous micafungin to oral azole antifungals. When patients were also taking azole antifungal agents, there was a significant difference in trough concentrations. When patients were NOT taking azole antifungal agents, there was no significant difference in trough concentrations (p=0.053).","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased trough concentration of tacrolimus in people with hematopoietic stem cell transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC7999651","article_title":"SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability","article_path":"articles/PMC7999651.md","variant_annotation_id":1451448720,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"atorvastatin","pmid":33805706,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A5 *1/*3 and *3/*3 genotypes were associated with lower AUC/DW, Cmax/DW and tmax and to higher Cl/F compared to the *1/*1 genotype.","sentence":"CYP3A5 *1/*3 + *3/*3 are associated with decreased concentrations of atorvastatin in healthy individuals as compared to CYP3A5 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC8767566","article_title":"Effect of HIV, antiretrovirals, and genetics on methadone pharmacokinetics: Results from the methadone antiretroviral pharmacokinetics study","article_path":"articles/PMC8767566.md","variant_annotation_id":1451516606,"variant_haplotypes":"rs2307424","gene":"NR1I3","drugs":"(R)-methadone","pmid":34482033,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Being HIV+, taking ART, presence of the rare ABCB1 rs2032582 T allele, and combined presence of the NR1I3 rs2307424 GG and rs3003596 GG genotypes if taking EFV each significantly increased R-methadone CL/F.\"","sentence":"Genotype GG is associated with increased clearance of (R)-methadone in people with HIV Infections.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681648,"variant_haplotypes":"rs4586","gene":"CCL2","drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In low severity schizophrenia patient subgroup","sentence":"Allele T is associated with decreased response to antipsychotics in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032025,"variant_haplotypes":"rs10835210","gene":"BDNF","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rs7934165 (r^2>0.7) and not independent.","sentence":"Genotype CC is associated with increased dose of methadone in people with Heroin Dependence as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC4503103","article_title":"S4646 polymorphism in CYP19A1 gene is associated with the efficacy of hormone therapy in early breast cancer","article_path":"articles/PMC4503103.md","variant_annotation_id":1447987564,"variant_haplotypes":"rs4646","gene":"CYP19A1","drugs":"tamoxifen","pmid":26191232,"phenotype_category":"Efficacy","significance":"yes","notes":"Women were on tamoxifen (n=250) or on unnamed aromatase inhibitors (n=37). Disease free survival was compared at 62.7 weeks and 55.6 weeks follow-up for all women for all women, though different week comparisons were used for each significant association that was found. This association was significant in all women combined and the pre-menopausal subset, but not the post-menopausal subset. The AA genotype was associated with poorer disease free survival in post-menopausal women (p=0.005).","sentence":"Genotypes AA + AC are associated with increased response to tamoxifen in women with Breast Neoplasms as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3390407","article_title":"Genome-Wide Association Analysis in Asthma Subjects Identifies SPATS2L as a Novel Bronchodilator Response Gene","article_path":"articles/PMC3390407.md","variant_annotation_id":978639678,"variant_haplotypes":"rs295137","gene":"SPATS2L","drugs":"salbutamol","pmid":22792082,"phenotype_category":"Efficacy","significance":"no","notes":"These were two attempts to replicate the association (which did not reach significance) noted in the combined group from 6 clinical trials.","sentence":"Allele T is not associated with response to salbutamol in people with Asthma as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5975540","article_title":"Association Between ABCB1 Polymorphism and Stable Warfarin Dose Requirements in Brazilian Patients","article_path":"articles/PMC5975540.md","variant_annotation_id":1449575733,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":29875668,"phenotype_category":"Dosage","significance":"no","notes":"There were no significant differences in mean warfarin stable dose (mg/week) (+3 INR stable, no dose change) in the overall group or in the identified \"white\" subgroup. The self-identified \"non-white\" subgroup had slight differences in mean warfarin doses (ANOVA p= 0.048 CC = 29.2, CT = 33.1, TT = 33.0). Two self-reported \"non-white\" patients had the TT genotype.","sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4113831","article_title":"Effectiveness of clopidogrel dose escalation to normalize active metabolite exposure and antiplatelet effects in CYP2C19 poor metabolizers","article_path":"articles/PMC4113831.md","variant_annotation_id":1184167146,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":24710841,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Assays done in blood samples of six each of *1/*1 (EM),*1/*2(IM) and *2/*2(PM) [based on only assaying for *2; 2 EMs were *1/*17 and one IM was a *2/*17] were compared for MPA4 (maximal platelet aggregation 4 hrs post-dose) and for active metabolite area under the curve. For the EMs, this result was significant for both the 150 and 300 mg/day doses; for the IMs and PMs, it was significant for the 300 mg/day dose. At day 8, PMs needed 300 mg/day and IMs needed 150 mg/day to attain a similar MPA4 as EMs on the 75 mg/day dose.","sentence":"CYP2C19 *2 (assigned as poor metabolizer phenotype) is associated with increased dose of clopidogrel in healthy individuals as compared to CYP2C19 *1 (assigned as normal metabolizer phenotype) .","alleles":"*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5135610","article_title":"Genetic polymorphisms in the long noncoding RNA MIR2052HG offer a pharmacogenomic basis for the response of breast cancer patients to aromatase inhibitor therapy","article_path":"articles/PMC5135610.md","variant_annotation_id":1449002468,"variant_haplotypes":"rs13260300","gene":null,"drugs":"anastrozole, exemestane","pmid":27758888,"phenotype_category":"Efficacy","significance":"no","notes":"Patients included postmenopausal women with resected stage I\u2013III breast cancer that was ERa and/or PgR positive and randomized to five years of anastrozole or exemestane.","sentence":"Allele T is not associated with increased response to anastrozole and exemestane in women with Breast Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3550197","article_title":"Prolonged Toxicity after Amitriptyline Overdose in a Patient Deficient in CYP2D6 Activity","article_path":"articles/PMC3550197.md","variant_annotation_id":1446903324,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"amitriptyline","pmid":21614669,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Intentionally overdosed on amitriptyline. Subject (found comatose) displayed prolonged rising of serum total amitriptyline and nortriptyline concentrations for at least 6 days after admission.","sentence":"CYP2D6 *4/*4 is associated with increased concentrations of amitriptyline.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375589,"variant_haplotypes":"rs57449396","gene":"TBL1XR1","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele T is associated with decreased response to allopurinol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5721751","article_title":"Genetic Variants Associated With Uncontrolled Blood Pressure on\u00a0Thiazide Diuretic/\u03b2\u2010Blocker Combination Therapy in the PEAR (Pharmacogenomic Evaluation of Antihypertensive Responses)\u00a0and INVEST (International Verapamil\u2010SR Trandolapril Study) Trials","article_path":"articles/PMC5721751.md","variant_annotation_id":1449576291,"variant_haplotypes":"rs35123024","gene":null,"drugs":"atenolol, hydrochlorothiazide","pmid":29097388,"phenotype_category":"Efficacy","significance":"not stated","notes":"Variant located near OR5H14. C allele associated with increased odds of uncontrolled blood pressure following thiazide diuretic/beta-blocker combination therapy. Variant only reached suggestive significance in discovery GWAS. Consistent direction of association found across discovery and replication cohorts but did not reach genome-wide significance in meta-analysis of all cohorts.","sentence":"Allele C is associated with decreased response to atenolol and hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4111883","article_title":"Characterisation of the Clinical Pharmacokinetics of Actinomycin D and the Influence of ABCB1 Pharmacogenetic Variation on Actinomycin D Disposition in Children with Cancer","article_path":"articles/PMC4111883.md","variant_annotation_id":1445296361,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"dactinomycin","pmid":24968986,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in actinomycin D clearance was seen between the genotypes (AA, AG, GG). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with clearance of dactinomycin in children with Neoplasms as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359577,"variant_haplotypes":"rs6356","gene":"TH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11418302","article_title":"CYP2C19 genotype and sodium channel blockers in lacosamide-treated children with epilepsy: two major determinants of trough lacosamide concentration or clinical response","article_path":"articles/PMC11418302.md","variant_annotation_id":1452616165,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"lacosamide","pmid":39314259,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Additionally, the presence of the rs717620 (C\u2009>\u2009T) variant, located in ABCC2, was significantly associated with lower exposure levels in monotherapy (\u03b2\u2009=\u2009\u22120.305, p\u2009=\u20090.048; Table 2).\"","sentence":"Allele T is associated with decreased exposure to lacosamide in children with Epilepsy as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359521,"variant_haplotypes":"rs129882","gene":"DBH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3555061","article_title":"Impact of the CYP2C8 *3 polymorphism on the drug\u2013drug interaction between gemfibrozil and pioglitazone","article_path":"articles/PMC3555061.md","variant_annotation_id":1449713480,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"pioglitazone","pmid":22625877,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Specifically, *1/*1 is not associated with t1/2 (half-life) of pioglitazone as compared to *1/*3 + *3/*3.","sentence":"CYP2C8 *1/*1 is not associated with metabolism of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC7292295","article_title":"Association between rs2275913 single\u2010nucleotide polymorphism of the interleukin\u201017A gene and perioperative analgesic use in cosmetic orthognathic surgery","article_path":"articles/PMC7292295.md","variant_annotation_id":1449716044,"variant_haplotypes":"rs2275913","gene":"IL17A","drugs":"opioids","pmid":30106258,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Opioid dose requirements increased as the copy number of the A allele increased.","sentence":"Allele A is associated with increased dose of opioids in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4206345","article_title":"The MYLIP p.N342S polymorphism is associated with response to lipid-lowering therapy in Brazilian patients with familial hypercholesterolemia","article_path":"articles/PMC4206345.md","variant_annotation_id":1184747838,"variant_haplotypes":"rs9370867","gene":"MYLIP","drugs":"atorvastatin","pmid":25171759,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with with heterozygous familial hypercholesterolemia were treated with atorvastatin with the addition of ezetimibe in over half the patients. Patients carrying the AA genotype were more likely to achieve LDL-C levels of less than 130\u00bfmg/dl after 1 year of treatment (75.0%) compared with patients with the GG and GA genotypes (34.5 and 34.8%, respectively; P=0.001). AA genotype had a greater LDL-C response compared with GG genotype. The presence of the G allele was associated with a greater odds of not achieving the LDL-C target in; a multivariate model (OR = 2.08 per G allele, 95% confidence interval (CI) = 1.11-; 3.90, P=0.02).","sentence":"Genotype AA is associated with increased response to atorvastatin in people with Hypercholesterolemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375648,"variant_haplotypes":"rs10193126","gene":"TRIB2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele C is associated with increased response to allopurinol as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4365300","article_title":"TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy","article_path":"articles/PMC4365300.md","variant_annotation_id":1444702654,"variant_haplotypes":"rs2476601","gene":"PTPN22","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":25834819,"phenotype_category":"Efficacy","significance":"no","notes":"using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.","sentence":"Allele A is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4613221","article_title":"SLCO1B1 c.388A>G Polymorphism Is Associated with HDL-C Levels in Response to Atorvastatin in Chilean Individuals","article_path":"articles/PMC4613221.md","variant_annotation_id":1446896327,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"atorvastatin","pmid":26334272,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AG and GG genotype had a greater percent increase in high-density lipoprotein cholesterol (HDL-C) levels as compared to those with the AA genotype. However, no significant differences in percent changes between genotypes were seen for total cholesterol (p=0.81), low density lipoprotein cholesterol (LDL-C; p=0.27) or triglycerides (p=0.30). Patients were treated with atorvastatin for 4 weeks at 10 mg/day.","sentence":"Genotypes AG + GG is associated with increased response to atorvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340080,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 21.6mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6448146","article_title":"Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users","article_path":"articles/PMC6448146.md","variant_annotation_id":1450375830,"variant_haplotypes":"CYP3A7*1A, CYP3A7*1C","gene":"CYP3A7","drugs":"etonogestrel","pmid":30870275,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"\"Carriers of CYP3A7*1C had, on average, 23% lower etonogestrel concentrations; than participants with the wild-type genotype\" in contraceptive; implant users which may theoretically put them at risk for contraceptive failure. Corrected P-value cutoff of 5.0E-4 was not met.","sentence":"CYP3A7 *1C is associated with decreased steady-state concentration of etonogestrel in women as compared to CYP3A7 *1A/*1A.","alleles":"*1C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1A/*1A","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678304,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors evaluated daily dose and maintenance dose and calculated the means for each genotype. The AG genotype is associated with a higher mean daily dose of carbamazepine (CBZ). Mean CBZ daily dose (mg/day) for the AG genotype was 594.4 vs. 440.4-525.4 for the GG and CC genotypes, respectively. There were no significant differences in maintenance dose, however. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AG is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4600600","article_title":"Pharmacogenetics of Naltrexone And Disulfiram in Alcohol Dependent, Dually Diagnosed Veterans","article_path":"articles/PMC4600600.md","variant_annotation_id":1452096920,"variant_haplotypes":"rs1611115","gene":"DBH","drugs":"disulfiram","pmid":24724887,"phenotype_category":"Efficacy","significance":"yes","notes":"Veterans. Two-thirds had a lifetime history of major depressive disorder, 37% had a lifetime history of post-traumatic stress disorder. 65% took SSRIs and 39% took anticonvulsants. 84-day treatment period. \"DBH genotype interacted with disulfram (p=0.01) on drinks per drinking day with less drinking for subjects with the \u201cCC\u201d genotype than for T allele carriers on disulfiram.\"","sentence":"Genotype CC is associated with increased response to disulfiram in men with Alcoholism as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3846997","article_title":"A polymorphism in the histone deacetylase 1 gene is associated with the response to corticosteroids in asthmatics","article_path":"articles/PMC3846997.md","variant_annotation_id":1184514481,"variant_haplotypes":"rs1741981","gene":"HDAC1","drugs":"Corticosteroids For Systemic Use","pmid":24307847,"phenotype_category":"Efficacy","significance":"yes","notes":"Adults with the CC genotype showed significantly lower percent forced expiratory volume in 1 second (%FEV1) increases in response to systemic corticosteroids, as compared to those with the CT or TT genotype. Patients were treated for 7 days. Note that this allele was significantly related to asthma severity (same direction of association; corrected p=0.036).","sentence":"Genotype CC is associated with decreased response to Corticosteroids For Systemic Use in people with Asthma as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359651,"variant_haplotypes":"rs1042098","gene":"SLC6A3","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4387236","article_title":"Genome-wide Association Study of Virologic Response with Efavirenz- or Abacavir-containing Regimens in AIDS Clinical Trials Group Protocols","article_path":"articles/PMC4387236.md","variant_annotation_id":1296598692,"variant_haplotypes":"rs374527","gene":null,"drugs":"efavirenz","pmid":25461247,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association with virologic failure is found for the combinations of CYP2B6 polymorphisms (rs3745274, rs28399499, and rs4803419).","sentence":"Allele G is not associated with response to efavirenz in people with HIV Infections as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557951,"variant_haplotypes":"rs2236225","gene":"MTHFD1","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5562097","article_title":"Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers","article_path":"articles/PMC5562097.md","variant_annotation_id":1448639925,"variant_haplotypes":"rs1902023","gene":"UGT2B15","drugs":"acetaminophen","pmid":28663312,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Clearance refers to apparent oral plasma clearance of acetaminophen and clearance of acetaminophen glucuronide. The A allele is also referred to as the *2 allele. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele A is associated with decreased clearance of acetaminophen in healthy individuals as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5963414","article_title":"Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson\u2019s disease","article_path":"articles/PMC5963414.md","variant_annotation_id":1444699877,"variant_haplotypes":"rs3836790","gene":"SLC6A3","drugs":"levodopa, methylphenidate","pmid":25805645,"phenotype_category":"Efficacy","significance":"yes","notes":"In a multivariate analysis adjusted for the dose of l-DOPA, the SLC6A3 rs3836790 genotype was strongly correlated with the motor UPDRS score ON l-DOPA (P = 0.002) the number of steps ON l-DOPA (P = 0.0003), the completion time OFF l-DOPA (P = 0.027), the completion time ON l-DOPA (P = 0.0009) and the number of freezing of gait episodes ON l-DOPA (P = 0.017).","sentence":"Genotype ACATACACACTCAGACACACATACCATGCA/ACATACACACTCAGACACACATACCATGCA is associated with increased response to levodopa and methylphenidate in people with Parkinson Disease as compared to genotypes ACATACACACTCAGACACACATACCATGCA/del + del/del.","alleles":"ACATACACACTCAGACACACATACCATGCA/ACATACACACTCAGACACACATACCATGCA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Parkinson Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ACATACACACTCAGACACACATACCATGCA/del + del/del","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678493,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Efficacy","significance":"no","notes":"The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype GG is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613179,"variant_haplotypes":"rs181781","gene":"IL3","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in CYP3A5 nonexpressors but not in CYP3A5 expressers, although the trend is similar. The time of measurement was 30 and 90 days after transplantation. Day 7 after transplantation did not show a significant association.","sentence":"Genotype AA is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7086280","article_title":"Effect of ADRA2A gene polymorphisms on the anesthetic and analgesic effects of dexmedetomidine in Chinese Han women with cesarean section","article_path":"articles/PMC7086280.md","variant_annotation_id":1451146204,"variant_haplotypes":"rs201376588","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":32256718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had significantly increased pain thresholds and significantly reduced VAS pain scores post-surgery than women with the CT or TT genotypes. There was no significant difference in pain thresholds between genotype group pre-surgery.","sentence":"Genotypes CT + TT are associated with decreased response to dexmedetomidine in women with Pain, Postoperative as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654356,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - no children had the *3/*3 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and CYP2C9*3 as rs1057910.","sentence":"CYP2C9 *3/*3 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11208962","article_title":"A Nanopore Sequencing-based Pharmacogenomic Panel to Personalize Tuberculosis Drug Dosing","article_path":"articles/PMC11208962.md","variant_annotation_id":1452459560,"variant_haplotypes":"rs1803155","gene":"AADAC","drugs":"rifampin","pmid":38647526,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"RIF clearance was 16.5% (1.30-29.3) lower in individuals who were homozygous alternate for AADACrs1803155 G>A substitutions (p=0.0015; Figure 4, Figure E3).\"","sentence":"Genotype AA is associated with decreased clearance of rifampin in people with Tuberculosis as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6171340","article_title":"Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy","article_path":"articles/PMC6171340.md","variant_annotation_id":1451134046,"variant_haplotypes":"rs3747178","gene":"CACNA1I","drugs":"ethosuximide","pmid":28165634,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by minor allele (T) frequency in not\u2013seizure\u2010free vs seizure-free children.","sentence":"Allele T is associated with decreased clinical benefit to ethosuximide in children with Epilepsy as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Efficacy:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144207,"variant_haplotypes":"rs1611259","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that this SNP is given the ID rs142425863 in the paper.","sentence":"Allele T is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5829963","article_title":"TCF7L2 Genetic Variation Augments Incretin Resistance and Influences Response to a Sulfonylurea and Metformin: The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH)","article_path":"articles/PMC5829963.md","variant_annotation_id":1451105843,"variant_haplotypes":"rs7903146","gene":"TCF7L2","drugs":"metformin","pmid":29326107,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by decreases in fasting glucose compared to pre-treatment in people with risk factors for type 2 diabetes.","sentence":"Allele T is associated with increased response to metformin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4445755","article_title":"Genetic variants in combination with early partial improvement as a clinical utility predictor of treatment outcome in major depressive disorder: the result of two pooled RCTs","article_path":"articles/PMC4445755.md","variant_annotation_id":1447681351,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"milnacipran","pmid":25710119,"phenotype_category":"Efficacy","significance":"yes","notes":"depressive symptoms measured on Hamilton Rating Scale for Depression and outcome as change in symptoms, as measured 6 weeks after drug, following 10 days washout.","sentence":"Genotypes CC + CG are associated with increased response to milnacipran in people with Depressive Disorder as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3909010","article_title":"Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes","article_path":"articles/PMC3909010.md","variant_annotation_id":1183944291,"variant_haplotypes":"CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":24497997,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Steady-state plasma concentration from HIV infected patients treated with EFV were used to calculate baseline biochemistries, CD4 counts, and viral load. The authors used non-linear mixed effect modeling to create a PK model of efavirenz. Significant covariates predicted to affect PK of efavirenz were included in the final model.; CYP2B6*6 haplotype was considered a significant factors in covariate analysis and included in the final pharmacokinetic model.","sentence":"CYP2B6 *6 is associated with metabolism of efavirenz in people with HIV.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6989102","article_title":"Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system","article_path":"articles/PMC6989102.md","variant_annotation_id":1450969140,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"phenytoin","pmid":31461080,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared to CYP2C9 extensive metabolizers (*1/*1 by the absence of *2 or *3), high-intermediate metabolizers (*1/*2) had an 8.6 pg/mL increase in mean dose-ad- justed phenytoin blood concentrations [95% confidence interval (CI): 2.3\u201314.8pg/mL; P<0.01]","sentence":"CYP2C9 *1/*2 is associated with increased concentrations of phenytoin as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2291274","article_title":"The CYP2D6 polymorphism in relation to the metabolism of amitriptyline and nortriptyline in the Faroese population","article_path":"articles/PMC2291274.md","variant_annotation_id":1446903489,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"amitriptyline","pmid":17764479,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Parameter: amitriptyline + nortriptyline/ dose or AT/dose or NT/dose. The study reports on CYP2D6PM (5) compared to EM (18) but diplotype was only reported for PM. 5 PMs (genotype as *4/*4) were included in the study.","sentence":"CYP2D6 *4/*4 is not associated with metabolism of amitriptyline as compared to CYP2D6 normal metabolizer.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5743122","article_title":"Pharmacogenetic guidance: individualized medicine promotes enhanced pain outcomes","article_path":"articles/PMC5743122.md","variant_annotation_id":1449296305,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"folic acid","pmid":29317847,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Please note that alleles have been complemented to the positive stand.; Case study of a patient with the A allele at rs1801133 and the G allele at rs1801131 who subsequently responded to folate supplementation.","sentence":"Allele G is associated with decreased metabolism of folic acid.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896085,"variant_haplotypes":"rs17220479","gene":"BRD2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4820801","article_title":"Prediction of tacrolimus metabolism and dosage requirements based on CYP3A4 phenotype and CYP3A5*3 genotype in Chinese renal transplant recipients","article_path":"articles/PMC4820801.md","variant_annotation_id":1448640944,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26924289,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The study also provided a regression equation to predict trough concentration and dose of tacrolimus based on CYP3A5 genotype, among other factors.","sentence":"CYP3A5 *3/*3 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002481,"variant_haplotypes":"rs2236722","gene":"CYP19A1","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"not stated","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Five SNPs (rs2289310 G>T; rs1047840 G>A; rs17431184 T>C; rs17160359 G>T; rs2236722 A>G) were identified as distinguishing the \"non-responder\" phenotype from the \"responder\" phenotype when using a logistic regression multivariate model. The AUC for the receiver operating characteristic curve of the 5 SNPs is 0.875. This logistic-based multivariate model is said to be able to identify 39.1% of non-responders.","sentence":"Allele G is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705532,"variant_haplotypes":"rs10853728","gene":null,"drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes CG + GG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3633658","article_title":"Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration (AMD) in the Comparison of AMD Treatments Trials (CATT)","article_path":"articles/PMC3633658.md","variant_annotation_id":1183491577,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"bevacizumab, ranibizumab","pmid":23337555,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in mean visual acuity (units = letters), mean visual acuity change from baseline (units = letters), >= 15-letter increase from baseline (%), mean number of injections, retinal thickness (%, units = um), mean change in total foveal thickness from baseline (units = um), dry on optical coherence tomography (%), leakage on fluorescein angiography (%) or mean change in lesion size from baseline (units = disc area) after 1 year of treatment were seen between genotypes. p <= 0.01 was considered statistically significant to adjust for multiple comparisons.","sentence":"Genotype TT is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679456,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"lansoprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *1/*2 or *1/*3 genotype. This was a meta-analysis and included 9 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.","sentence":"CYP2C19 *1/*1 is associated with decreased response to lansoprazole in people with Helicobacter Infections as compared to CYP2C19 *1/*2 + *1/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557945,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974032,"variant_haplotypes":"rs2295795","gene":"TLN1","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6939828","article_title":"Identification of Cytochrome P450 Polymorphisms in Burn Patients and Impact on Fentanyl Pharmacokinetics: A Pilot Study","article_path":"articles/PMC6939828.md","variant_annotation_id":1451099074,"variant_haplotypes":"CYP2D6*1, CYP2D6*29","gene":"CYP2D6","drugs":"fentanyl","pmid":30371861,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single patient identified with the CYP2D6*29 allele. Clearance of fentanyl in this patient was significantly lower than in WT patients.","sentence":"CYP2D6 *29 is associated with decreased clearance of fentanyl in people with Burns as compared to CYP2D6 *1.","alleles":"*29","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Burns","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930282,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"nicotine","pmid":26010901,"phenotype_category":"Dosage","significance":"yes","notes":"The A allele of rs16969968 was significantly associated with 10% higher cotinine levels, however it was not significantly with self-reported number of cigarettes per day (P = 0.30). Smokers carrying an \u2018A\u2019 allele of rs16969968 had significantly higher cotinine per cigarette (P = 0.002).","sentence":"Allele A is associated with increased dose of nicotine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238661,"variant_haplotypes":"rs2247408","gene":"PLAGL1","drugs":"olanzapine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to olanzapine in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5534241","article_title":"A Longitudinal HbA1c Model Elucidates Genes Linked to Disease Progression on Metformin","article_path":"articles/PMC5534241.md","variant_annotation_id":1448267827,"variant_haplotypes":"rs316009","gene":"SLC22A2","drugs":"metformin","pmid":27415606,"phenotype_category":"Efficacy","significance":"yes","notes":"using computational model-based approaches and genetic, demographic, and long-term HbA1c data from 1,056 patients.","sentence":"Genotype TT is associated with increased response to metformin in people with Diabetes Mellitus as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10085626","article_title":"Novel and replicated clinical and genetic risk factors for toxicity from high-dose methotrexate in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC10085626.md","variant_annotation_id":1452008000,"variant_haplotypes":"rs2838958","gene":"SLC19A1","drugs":"methotrexate","pmid":36764694,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"We identified one SNP associated with delayed MTX clearance and likely associated with; increased creatinine. Each additional A allele of rs2838958, an intronic variant of SLC19A1,; demonstrated an OR of 1.73 (95% CI 1.24-2.38) for prolonged MTX clearance and 1.35 (95% CI; 0.99-1.81) for increased creatinine (Table 5 and Figures 2).\"","sentence":"Allele A is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11347466","article_title":"Genetic variability of three common NK and \u03b3\u03b4 T cell receptor genes (FC\u03b33R, NCR3, and DNAM-1) and their role in Polish patients with rheumatoid arthritis and ankylosing spondylitis","article_path":"articles/PMC11347466.md","variant_annotation_id":1452472733,"variant_haplotypes":"rs1052248","gene":"NCR3","drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":38714580,"phenotype_category":"Efficacy","significance":"yes","notes":"\" a more favorable impact of the rs1052248 T allele was also seen in; RA patients concerning the anti-TNF treatment outcome\"","sentence":"Genotypes AT + TT is associated with increased clinical benefit to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238726,"variant_haplotypes":"rs9952628","gene":"SKOR2","drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to perphenazine in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10618485","article_title":"Elexacaftor-Tezacaftor-Ivacaftor in 2 cystic fibrosis adults homozygous for M1101K with end-stage lung disease","article_path":"articles/PMC10618485.md","variant_annotation_id":1452291702,"variant_haplotypes":"rs36210737","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":37920361,"phenotype_category":"Efficacy","significance":"no","notes":"\"We report 2 cases of pwCF with the rare M1101K variant who have improvements in lung function, pulmonary exacerbation frequency, respiratory symptoms and BMI following 6 months of ETI CFTR modulator therapy.\" (mapped to rs36210737AA)","sentence":"Genotype AA is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756037,"variant_haplotypes":"rs296766","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11246114","article_title":"Association of SLC22A1, SLC47A1, and KCNJ11 polymorphisms with efficacy and safety of metformin and sulfonylurea combination therapy in Egyptian patients with type 2 diabetes","article_path":"articles/PMC11246114.md","variant_annotation_id":1452538940,"variant_haplotypes":"rs2289669","gene":"SLC47A1","drugs":"\"metformin\", \"sulfonamides, urea derivatives\"","pmid":39005567,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The current study found that the A allele in MATE1 rs2289669 SNP was associated with a better metformin/sulfonylurea treatment response\"","sentence":"Allele A is associated with increased clinical benefit to metformin and sulfonamides, urea derivatives in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479695,"variant_haplotypes":"rs472660","gene":"CYP3A43","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Dosage, Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype AA is associated with increased clearance of olanzapine in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3912955","article_title":"Polymorphism of the complement receptor 1 gene correlates with the hematologic response to eculizumab in patients with paroxysmal nocturnal hemoglobinuria","article_path":"articles/PMC3912955.md","variant_annotation_id":1184512008,"variant_haplotypes":"rs2274567","gene":"CR1","drugs":"eculizumab","pmid":24038027,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was defined as no red blood cell transfusion at any time after the first 6 months on eculizumab treatment (patients had a median follow-up of 52 months, range of 11-98 months). In the paper, AA = His/His.","sentence":"Genotypes AG + GG is associated with decreased response to eculizumab in people with paroxysmal nocturnal hemoglobinuria as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:paroxysmal nocturnal hemoglobinuria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5749387","article_title":"The influence of CYP3A5 polymorphisms on haloperidol treatment in patients with alcohol addiction","article_path":"articles/PMC5749387.md","variant_annotation_id":1449164008,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"6beta-hydroxycortisol","pmid":29343979,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No patients were found to have the TT genotype.; 6-beta-hydroxycortisol metabolism by CYP3A5 was used as a method of assessing CYP3A5 activity. No association between CYP3A5 activity and genotype at rs776746.; Please note that alleles have been complemented to the positive strand.","sentence":"Genotype CT is not associated with metabolism of 6beta-hydroxycortisol in men with Alcoholism as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157181,"variant_haplotypes":"rs2234918","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele T is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4716887","article_title":"Influence of ADME genomic variants on tacrolimus/sirolimus blood levels and GVHD after allogeneic hematopoietic cell transplantation","article_path":"articles/PMC4716887.md","variant_annotation_id":1447674588,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"sirolimus","pmid":26325438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were carriers of the A allele (i.e. genotypes AA, AT or AC) had higher median sirolimus levels as compared to non-A carriers (i.e. genotypes TT, CC or CT). Borderline significant findings were also observed for the dose-adjusted concentrations (C/D) of sirolimus (p=0.05). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is associated with increased concentrations of sirolimus in people with hematopoietic stem cell transplantation.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3940150","article_title":"Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine","article_path":"articles/PMC3940150.md","variant_annotation_id":1448993530,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz, non-nucleoside reverse transcriptase inhibitors","pmid":22951632,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to efavirenz or non-nucleoside reverse transcriptase inhibitors in women with HIV Infections as compared to genotype TT.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC1884342","article_title":"Identification of a novel splice-site mutation in the CYP1A2 gene","article_path":"articles/PMC1884342.md","variant_annotation_id":1452873500,"variant_haplotypes":"CYP1A2*7","gene":"CYP1A2","drugs":"clozapine","pmid":12919186,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"A 71-year-old, nonsmoking, Caucasian woman, hospitalized with a schizoaffective disorder, mania type diagnosis (ICD 10 F25.0), was suspected of presenting with an overdose of clozapine. Found to be heterozygote for CYP1A2*7. \"Only one heterozygous point mutation was identified in the donor splice site of intron 6 (3534G > A) of CYP1A2. This mutation could cause abnormal RNA splicing and therefore lead to a truncated nonfunctional enzyme.\" Pharmvar defines *7 as 3533G>A (rs56107638, splice defect) and this variant is in no other Pharmvar CYP1A2 core star allele.","sentence":"CYP1A2 *7 is associated with increased concentrations of clozapine in women with Schizoaffective disorder.","alleles":"*7","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Schizoaffective disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491199,"variant_haplotypes":"rs1995381","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype AA is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107261,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or white patients.","sentence":"Allele C is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166063,"variant_haplotypes":"rs4562","gene":"ELP5","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448435387,"variant_haplotypes":"rs10929302","gene":"UGT1A1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AG + GG are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726057,"variant_haplotypes":"rs4621031","gene":"SLC47A2","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs4621031 as top SNP for SLC47A2","sentence":"Allele C is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472429,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"yes","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4116670","article_title":"OCT1 genetic variants influence the pharmacokinetics of morphine in children","article_path":"articles/PMC4116670.md","variant_annotation_id":1451097485,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"morphine","pmid":23859569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with two loss of function SLC22A1 alleles (*2 rs72552763 GAT>del, *3 rs12208357C>T, *4 rs34130495 G>A, or *5 rs34059508 G>A) were grouped together and had significantly lower clearance compared to children with the *1/*1 or *1/variant genotype.","sentence":"Genotype AA is associated with decreased clearance of morphine in children with adenotonsillectomy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:adenotonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6289816","article_title":"Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms","article_path":"articles/PMC6289816.md","variant_annotation_id":1449750363,"variant_haplotypes":"NUDT15*1, NUDT15*3, NUDT15*5","gene":"NUDT15","drugs":"mercaptopurine","pmid":29967377,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"Doses were adjusted to give maintain a leukocyte count of 1500\u20133000 /\u00b5l. Mean dose for *1/*1, *1/*2, *1/*5 or *1/*6 was approximately 40mg/m2, and for *1/*3 was approx 20mg/m2 and for *3/*3 and *3/*5 was approx 5mg/m2.","sentence":"NUDT15 *3/*3 + *3/*5 is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*3 + *1/*1.","alleles":"*3/*3 + *3/*5","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148582,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to escitalopram in people with Depression as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":827784981,"variant_haplotypes":"rs6438552","gene":"GSK3B","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":"Authors say not significant.","sentence":"Genotype GG is associated with increased response to lithium in people with Bipolar Disorder.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3030919","article_title":"Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes","article_path":"articles/PMC3030919.md","variant_annotation_id":1452582025,"variant_haplotypes":"rs11212617","gene":"C11orf65","drugs":"metformin","pmid":21186350,"phenotype_category":"Efficacy","significance":"not stated","notes":"For the second replication set in the UK cohort (Prospective Diabetes (UKPDS) cohort), study genotyped the proxy SNP rs609261 (r2 = 0.997 with rs11212617 in 5,197 WTCCC2 controls) for technical reasons.","sentence":"Allele C is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928264,"variant_haplotypes":"rs3818929","gene":"SLC44A3","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553540,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AG are associated with decreased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144238,"variant_haplotypes":"rs7405404","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4002408","article_title":"Lack of effect of genetic polymorphisms of SLCO1B1 on the lipid-lowering response to pitavastatin in Chinese patients","article_path":"articles/PMC4002408.md","variant_annotation_id":1451451706,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"pitavastatin","pmid":20140004,"phenotype_category":"Efficacy","significance":"no","notes":"There was no statistical difference among patients with wild type, SLCO1B1 388A>G or SLCO1B1 521T>C in the lipid-lowering efficacy of pitavastatin in Chinese patients with essential hyperlipidemia.","sentence":"Genotypes AG + GG are not associated with response to pitavastatin in people with Hyperlipidemias as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694686,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"yes","notes":"130 plasma samples were obtained 12 hours after the last dose of warfarin. rs7294 was associated with a significant reduction of warfarin plasma concentration (rs7294: CC 1117.29\u00b1323.23 ng/ml vs CT 1675.73\u00b1431.09 ng/ml, p < 0.001 ANOVA). rs7294 had significant effects on plasma concentration of warfarin (coefficient was 0.527, p < 0.001) and it could explain 26.7% of the variability in plasma concentration.The plasma warfarin concentrations of these samples were comparing plasma concentration within the group of patients with INR between 1.5\u20132.5 (n = 92). Patients were grouped according to INR and genotypes. For patients genotype CT or TT a higher plasma concentration was needed to achieve the goal INR.","sentence":"Genotype CC is associated with decreased concentrations of warfarin in people with heart valve replacement as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":827649690,"variant_haplotypes":"rs7294","gene":"PRSS53, VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5983535","article_title":"The OPRM1 A118G polymorphism: converging evidence against associations with alcohol sensitivity and consumption","article_path":"articles/PMC5983535.md","variant_annotation_id":1450371982,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":29497164,"phenotype_category":"Toxicity","significance":"no","notes":"There was no significant association between the G allele and subjective response to ethanol, craving, rate of binging or total alcohol exposure.","sentence":"Allele G is not associated with response to ethanol in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2432487","article_title":"Effect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians","article_path":"articles/PMC2432487.md","variant_annotation_id":1183623395,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"lansoprazole, omeprazole","pmid":18241283,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in area under the concentration-time curve (AUC) was seen between the two genotypes in subjects taking omeprazole (10 mg/day) or lansoprazole (15 mg/day). Subjects were treated with either drug for 6 days, in a crossover fashion; AUC was measured on day 1 after initiation of treatment.","sentence":"CYP2C19 *1/*1 is not associated with metabolism of lansoprazole or omeprazole in healthy individuals as compared to CYP2C19 *1/*2.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC4525256","article_title":"Leveraging an Electronic Health Record-Linked Biorepository to Generate a Metformin Pharmacogenomics Hypothesis","article_path":"articles/PMC4525256.md","variant_annotation_id":1446903446,"variant_haplotypes":"rs1920145","gene":null,"drugs":"metformin","pmid":26306225,"phenotype_category":"Efficacy","significance":"no","notes":"EHR-linked and EHR-based phenotyping methods were used to study common variants within FMO5. Efficacy was assessed by A1c levels extracted from EHR records.","sentence":"Allele C is not associated with response to metformin in people with Diabetes Mellitus as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11152251","article_title":"Effect of SCN1Aand SCN2A gene polymorphisms on the efficacy of valproic acid treatment in Chinese children with epilepsy","article_path":"articles/PMC11152251.md","variant_annotation_id":1452498427,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"valproic acid","pmid":38837984,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Our study found a significant association between SCN1A rs2298771 T > C and drug response in both VPA monotherapy and VPA polypharmacy. Patients carrying the rs2298771 TT genotype displayed heightened sensitivity to VPA treatment, resulting in improved seizure control compared to CT and CC genotype carriers.\"","sentence":"Genotype TT is associated with increased clinical benefit to valproic acid in children with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3991683","article_title":"IFNL4 ss469415590 Variant Shows Similar Performance to rs12979860 as Predictor of Response to Treatment against Hepatitis C Virus Genotype 1 or 4 in Caucasians","article_path":"articles/PMC3991683.md","variant_annotation_id":1184985914,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, ribavirin","pmid":24748394,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were infected with HCV genotype 1 or 4. Sustained viral response (SVR) was defined as undetectable plasma HCV RNA 24 weeks after the completion of treatment. The two SNPs rs12979860 (IL28B) and rs368234815 (IFNL4) are in strong LD (r squared of 0.82).; The SNPs were also tested by HCV genotype (1 or 4) and were both equally predictive.; The AUROC model that included rs12979860 was 0.742 (95% CI: 0.672-0.813)","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679260,"variant_haplotypes":"rs10485058","gene":"OPRM1","drugs":"methadone","pmid":34910759,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147640,"variant_haplotypes":"CYP3A4*1, CYP3A4*3, CYP3A4*20, CYP3A4*22","gene":"CYP3A4","drugs":"fentanyl, imatinib, quetiapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"AUC of all three drugs was increased in the presence of CYP3A4 variants. Statistical analysis was not carried out for individual drugs due to the low number of subjects carrying CYP3A4 variants. *3 allele was identified using rs4986910, *20 was identified using rs67666821 and *22 was identified using rs35599367.","sentence":"CYP3A4 *3 + *20 + *22 are associated with increased exposure to fentanyl, imatinib or quetiapine in healthy individuals as compared to CYP3A4 *1.","alleles":"*3 + *20 + *22","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491245,"variant_haplotypes":"rs7732173","gene":"SV2C","drugs":"risperidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score. In significant LD (r2 > 0.95) with rs10514062 and rs2358531.","sentence":"Genotype AA is not associated with response to risperidone in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949770,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"yes","notes":"Frequency of CC+TC genotypes was significantly higher in clopidogrel-resistant patients than in clopidogrel-sensitive patients.","sentence":"Genotypes CC + CT are associated with increased resistance to clopidogrel in people with Stroke as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4921119","article_title":"Effects of CYP3A5 polymorphism on the pharmacokinetics of a once-daily modified-release tacrolimus formulation and acute kidney injury in hematopoietic stem cell transplantation","article_path":"articles/PMC4921119.md","variant_annotation_id":1448427616,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":27217047,"phenotype_category":"Dosage","significance":"yes","notes":"Patients were started on tacrolimus continuous infusion and then converted to once-daily oral intake. Intravenous infusion of micafungin was given during the neutropenic phase, then seven days after switching from tacrolimus continuous infusion to once-daily oral intake, antifungal agents were switched from intravenous micafungin to oral azole antifungal agents. Whole blood samples from the patients were collected 4-7 days after switching to once-daily tacrolimus oral dosing and then 4-7 days after switching from intravenous micafungin to oral azole antifungals. When patients were also taking azole antifungal agents, there was a significant difference in dose. When patients were NOT taking azole antifungal agents, there was no significant difference in dose (p=0.965).","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with hematopoietic stem cell transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755977,"variant_haplotypes":"rs7251786","gene":"TMEM205","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472436,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"yes","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3521860","article_title":"Modifying Role of Serotonergic 5-HTTLPR & TPH2 Variants on Disulfiram Treatment of Cocaine Addiction: A Preliminary Study","article_path":"articles/PMC3521860.md","variant_annotation_id":1452010740,"variant_haplotypes":"rs4290270","gene":"TPH2","drugs":"disulfiram","pmid":22925276,"phenotype_category":"Efficacy","significance":"yes","notes":"There was no difference between disulfiram treatment and placebo for the TT homozygotes but the AT/TT group had lower cocaine positive urines during treatment compared to placebo.","sentence":"Genotypes AA + AT is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotype TT (assigned as high activity phenotype) .","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cocaine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":"high activity"} -{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372728,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"escitalopram, nortriptyline","pmid":30874608,"phenotype_category":"Efficacy","significance":"no","notes":"Although there was no significant association of this variant with treatment response in the combined group of patients treated with escitalopram or nortriptyline, there was a significant association in the group of escitalopram-treated patients.","sentence":"Genotype TT is not associated with response to escitalopram or nortriptyline in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238689,"variant_haplotypes":"rs221253","gene":"PTPRN2","drugs":"olanzapine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to olanzapine in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811918,"variant_haplotypes":"rs681243","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The T allele was associated with increased scores in the buzzed, clumsy, dizzy and nausea traits as well as increased total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is associated with increased response to ethanol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC524175","article_title":"Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment","article_path":"articles/PMC524175.md","variant_annotation_id":655387073,"variant_haplotypes":"rs1367117","gene":"APOB","drugs":"irbesartan","pmid":15453913,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":"reduction in systolic blood pressure. Treatment was with 150 mg/day for 12 weeks. The dose was doubled; after six weeks if the diastolic blood pressure was >= 90; mm Hg. Avg reduction in G carriers was 14 mm Hg.","sentence":"Genotype AG is associated with response to irbesartan in people with Hypertension.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715484,"variant_haplotypes":"rs7668282","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6927671","article_title":"Common polymorphisms of CYP2B6 influence stereoselective bupropion disposition","article_path":"articles/PMC6927671.md","variant_annotation_id":1449564030,"variant_haplotypes":"CYP2B6*1, CYP2B6*4, CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":29756345,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of CYP2B6*4 allele had increased hydroxylation of both bupropion enantiomers, assessed by plasma hydroxybupropion/bupropion AUC ratios and urine hydroxybupropion formation clearances. \"Median hydroxybupropion/bupropion AUC ratios in CYP2B6*4/X and CYP2B6*1/*1 subjects were 53 (36, 71) and 21 (15, 25) for R,R-hydroxybupropion, 3.4 (2.7, 4.7) and 2.1 (1.6, 2.7) for S,S-hydroxybupropion, and 37 (24, 52) and 15 (10, 18) for total hydroxybupropion.\"","sentence":"CYP2B6 *1/*4 + *4/*6 are associated with increased metabolism of bupropion in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*1/*4 + *4/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5563830","article_title":"Association of ABCB1 Gene Polymorphisms with Efficacy and Adverse Reaction to Risperidone or Paliperidone in Han Chinese Schizophrenic Patients","article_path":"articles/PMC5563830.md","variant_annotation_id":1448604036,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"risperidone","pmid":27456824,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles given as reverse strand G, A and T. Efficacy measured with reduction in PANSS total score reduced rate. No difference found in PANSS reduction in any genotype.","sentence":"Genotype CC is not associated with response to risperidone in people with Schizophrenia as compared to genotype AA.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715464,"variant_haplotypes":"rs4235108","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was no significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Allele A is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934341,"variant_haplotypes":"rs398123212","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Gly183Asp in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3537445","article_title":"Impact of UGT1A1 Gilbert Variant on Discontinuation of Ritonavir-Boosted Atazanavir in AIDS Clinical Trials Group Study A5202","article_path":"articles/PMC3537445.md","variant_annotation_id":1451163993,"variant_haplotypes":"UGT1A1*1, UGT1A1*28, UGT1A1*36","gene":"UGT1A1","drugs":"atazanavir / ritonavir","pmid":23148286,"phenotype_category":"Toxicity","significance":"yes","notes":"There was an association between *28/*28 (TA7 and TA8 combined) and increased ritonavir-boosted atazanavir discontinuation among Hispanic participants (P = .005) but not among white or black participants (P = .79 and P = .46, respectively). \"Genotyping of UGT1A1 rs8175347...*36 (TA)5, *1 (TA)6, *28 (TA)7, and *37 (TA)8.\" \"On the basis of the low expected frequencies of UGT1A1*36 (TA)5 and *37 (TA)8 and their known effects on UGT1A1 expression, UGT1A1*36 (TA)5 and *37 (TA)8 were grouped with *1 (TA)6 and *28 (TA)7 alleles, respectively. This provided a 3-level ordered genotype based on (allele 1)/(allele 2): (*1 or *36)/(*1 or *36), (*1 or *36)/(*28* or *37), and (*28* or *37)/(*28* or *37). These are hereafter referred to as *1/*1, *1/*28*, and 28*/*28*, respectively.\" \" Participants were randomly assigned to receive open-label 300-mg atazanavir plus 100-mg ritonavir or 600-mg efavirenz, with placebo controlled 600-mg abacavir 300-mg lamivudine or 300-mg tenofovir DF 200-mg emtricitabine.\" NCT00118898","sentence":"UGT1A1 *28/*28 is associated with increased discontinuation of atazanavir / ritonavir in people with HIV Infections as compared to UGT1A1 *1/*1 + *1/*28 + *1/*36 + *36/*36.","alleles":"*28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*28 + *1/*36 + *36/*36","comparison_metabolizer_types":null} -{"pmcid":"PMC7375952","article_title":"Genetic variants in CYP2A6 and UGT1A9 genes associated with urinary nicotine metabolites in young Mexican smokers","article_path":"articles/PMC7375952.md","variant_annotation_id":1451409700,"variant_haplotypes":"rs145014075","gene":"CYP2A6","drugs":"nicotine","pmid":31959879,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Participants with the GT genotype had significantly higher creatinine-adjusted levels of nicotine.","sentence":"Genotype GT is associated with increased concentrations of nicotine as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5606007","article_title":"Novel variants in NUDT15 and thiopurine intolerance in children with acute lymphoblastic leukemia from diverse ancestry","article_path":"articles/PMC5606007.md","variant_annotation_id":1448635118,"variant_haplotypes":"rs766023281","gene":"NUDT15","drugs":"mercaptopurine","pmid":28659275,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"The variant was recurrent in two patients: one from Taiwan and one from Singapore. Both patients tolerated very low doses of mercaptopurine (17.9 and16.4 mg/m /day). Nucleotide diphosphotase activity could not be detected in in vitro studies.","sentence":"Allele C is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166269,"variant_haplotypes":"rs11552708","gene":"SENP3","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995956,"variant_haplotypes":"rs2233945","gene":"PSORS1C1","drugs":"adalimumab","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"No significant associations were seen at six months after the beginning of treatment when response was measured as number of patients in remission or with low disease activity or by EULAR score.; A significant association was seen at two years after treatment when response was measured by EULAR score however this significance was lost after correction for multiple variables. No significant association was seen at two years after treatment when response was measured as the number of patients in remission or with low disease activity.","sentence":"Allele A is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5546852","article_title":"Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention","article_path":"articles/PMC5546852.md","variant_annotation_id":1448617603,"variant_haplotypes":"rs6719578","gene":null,"drugs":"metformin","pmid":28453780,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were at high risk of diabetes and were recruited from Diabetes Prevention Program (DPP) and were followed for a year. The authors measured changes in response to insulin at baseline and one year after treatment. The C allele was significantly associated with response to Metformin (vs. Placebo).","sentence":"Genotype CG is associated with increased response to metformin as compared to genotype GG.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930247,"variant_haplotypes":"rs588765","gene":"CHRNA5","drugs":"nicotine, varenicline","pmid":26010901,"phenotype_category":"Efficacy","significance":"no","notes":"Response here refers to smoking cessation outcomes at 7 days and nicotine refers to nicotine patches. Smoking cessation outcomes at 6 months and 12 months were also not significantly associated with genotype.","sentence":"Genotype TT is not associated with response to nicotine or varenicline in people with Tobacco Use Disorder as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4201132","article_title":"Gene Variants in CYP2C19 Are Associated with Altered In Vivo Bupropion Pharmacokinetics but Not Bupropion-Assisted Smoking Cessation Outcomes","article_path":"articles/PMC4201132.md","variant_annotation_id":1184985821,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"bupropion","pmid":25187485,"phenotype_category":"Efficacy","significance":"no","notes":"There was no association between CYP2C19 variants and the efficacy of bupropion to promote cessation of smoking in African-American smokers. 270 patients were treated with placebo and 270 patients were treated with bupropion. Patients in the treatment arm were given 150 mg once a day of bupropion for 3 days then 150mg twice a day for seven weeks.","sentence":"CYP2C19 *2 + *17 are not associated with response to bupropion in people with Tobacco Use Disorder as compared to CYP2C19 *1.","alleles":"*2 + *17","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2952572","article_title":"Apolipoprotein B genetic variants modify the response to fenofibrate: a GOLDN study","article_path":"articles/PMC2952572.md","variant_annotation_id":981500768,"variant_haplotypes":"rs676210","gene":"APOB","drugs":"fenofibrate","pmid":20724655,"phenotype_category":"Efficacy","significance":"yes","notes":"AA genotype participants had greater lowering of triglycerides than did AG or GG individuals.","sentence":"Genotype AA is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934482,"variant_haplotypes":"rs190347120","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the A allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Asp264Tyr in the paper.","sentence":"Allele A is associated with increased response to migalastat in people with Fabry Disease.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1452852940,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"Rasagiline pharmacokinetic parameters based on CYP1A2 diplotypes are shown in Table 4. No significant associations were observed. \" \"The most prevalent allele was *1F (53%),the most prevalent diplotypes were *1F/*1F (33%) and *1B/*1F (31%)\" *1F=*30=rs762551 (-163) C>A (PharmVar 2024). Article included diplotypes based on the following alleles *1B, *1C, *1E, *1F, *1G, *1J, *1K, *1L, *1N. After CYP1A2 full transition into PharmVar (12/2024) *1B is assigned under the *1 core allele. *1C, *1E, *1G, *1J, *1K were not transferred to the PharmVar CYP1A2 nomenclature and *1F, *1L, *1N are grouped under *30. Annotation done on rs762551. The -163C>A SNP by itself is the core allele definition for *30, however, -163C>A is included in several other core alleles (25 different CYP1A2 core alleles in addition to *30, as of 02/2025).","sentence":"Genotype AA is not associated with clearance of rasagiline in healthy individuals.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821482,"variant_haplotypes":"rs7132846","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use.","sentence":"Allele T is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9820795","article_title":"The MAOA rs979605 Genetic Polymorphism Is Differentially Associated with Clinical Improvement Following Antidepressant Treatment between Male and Female Depressed Patients","article_path":"articles/PMC9820795.md","variant_annotation_id":1451987761,"variant_haplotypes":"rs1799836","gene":"MAOB","drugs":"5-hydroxyindole-3-acetic acid, serotonin","pmid":36613935,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"TT/T females/males had a significantly higher 5HIAA/5HT ratio (2.79 \u00b1 0.27) compared to CC/C females/males (2.18 \u00b1 0.28) following Bonferroni correction\"","sentence":"Allele T is associated with increased concentrations of 5-hydroxyindole-3-acetic acid and serotonin in men with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in men with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2919241","article_title":"Impact of CYP2B6, ABCB1 and CYP3A5 Polymorphisms on Efavirenz Pharmacokinetics and Treatment Response: An AIDS Clinical Trials Group Study","article_path":"articles/PMC2919241.md","variant_annotation_id":655387331,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"efavirenz","pmid":20662624,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"Analyses comprised 831 subjects (19% female, 48% white, 34% black, and 18% Hispanic)","sentence":"Allele A is not associated with decreased response to efavirenz in people with Acquired Immunodeficiency Syndrome.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Acquired Immunodeficiency Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4274707","article_title":"IFNL4 ss469415590 Variant Is Associated with Treatment Response in Japanese HCV Genotype 1 Infected Individuals Treated with IFN-Including Regimens","article_path":"articles/PMC4274707.md","variant_annotation_id":1444843667,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":25548683,"phenotype_category":"Efficacy","significance":"yes","notes":"in Japanese hepatitis C genotype 1 patients.","sentence":"Genotype TT/TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes G/TT + GG.","alleles":"TT/TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163284,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6786370","article_title":"Influences of an NR1I2 polymorphism on heterogeneous antiplatelet reactivity responses to clopidogrel and clinical outcomes in acute ischemic stroke patients","article_path":"articles/PMC6786370.md","variant_annotation_id":1450117776,"variant_haplotypes":"rs2254638","gene":"N6AMT1","drugs":"clopidogrel","pmid":30487649,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is associated with decreased H4 concentration, and decreased antiplatelet effects of clopidogrel with a higher PRU.","sentence":"Allele G is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4484512","article_title":"Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis","article_path":"articles/PMC4484512.md","variant_annotation_id":1449192136,"variant_haplotypes":"rs80034486","gene":"CFTR","drugs":"lumacaftor","pmid":26137539,"phenotype_category":"Efficacy","significance":"no","notes":"N1303K allele. Study carried out using primary bronchial epithelial cells from donors with cystic fibrosis. Secretion of chloride ions across the cell membrane was measured to determine CFTR activity.; Cells had the CFTR genotype N1303K/G542X. As the G542X allele does not generate a protein molecule, these cells were used to assess the effects of lumacaftor on the N1303K allele only.","sentence":"Allele G is not associated with response to lumacaftor.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171419,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"no","notes":"As compared to AC, CT and AT genotypes. Dose-corrected tacrolimus exposure (AUC0-12/doseBW). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is not associated with concentrations of tacrolimus in children with Kidney Transplantation.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5980466","article_title":"Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation","article_path":"articles/PMC5980466.md","variant_annotation_id":1449191972,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"apixaban","pmid":29457840,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":null,"sentence":"Genotypes CT + TT is associated with increased clearance of apixaban in people with Atrial Fibrillation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046427,"variant_haplotypes":"rs11615","gene":"ERCC1","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele G is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448492904,"variant_haplotypes":"rs9332978","gene":"CYP4A11","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CT is not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3403289","article_title":"CHRNB2 Promoter Region: Association with subjective effects to nicotine and expression differences","article_path":"articles/PMC3403289.md","variant_annotation_id":981483844,"variant_haplotypes":"rs2229959","gene":"CHRNA4","drugs":"nicotine","pmid":20854418,"phenotype_category":"Other","significance":"yes","notes":"Response(sweating, heart pounding and nausea) to the first experimental cigarette was measured using the NEQ(nicotine effects scale).","sentence":"Allele C is associated with increased response to nicotine in people with daily smoking as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:daily smoking","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3997354","article_title":"Genetic Polymorphism of Cytochrome P450 4F2, Vitamin E Level and Histological Response in Adults and Children with Nonalcoholic Fatty Liver Disease Who Participated in PIVENS and TONIC Clinical Trials","article_path":"articles/PMC3997354.md","variant_annotation_id":1184472059,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"vitamin e","pmid":24759732,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele is not significantly associated with improvement in liver histology in pediatric or adult patients receiving vitamin E (alpha-tocopherol) supplements at week 48 or at week 96.","sentence":"Allele T is not associated with response to vitamin e in people with Fatty liver disease as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fatty liver disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510958,"variant_haplotypes":"CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9","gene":"CYP2A6","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"yes","notes":"The objective response rate was significantly lower in patients carrying CYP2A6 variant alleles compared to those with no variant alleles.","sentence":"CYP2A6 *4 + *7 + *9 are associated with decreased response to irinotecan, oxaliplatin and tegafur / gimeracil / oteracil in people with Colorectal Neoplasms as compared to CYP2A6 *1/*1.","alleles":"*4 + *7 + *9","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5411211","article_title":"Associations between P2RY12 gene polymorphisms and risks of clopidogrel resistance and adverse cardiovascular events after PCI in patients with acute coronary syndrome","article_path":"articles/PMC5411211.md","variant_annotation_id":1448613376,"variant_haplotypes":"rs6785930","gene":"P2RY12","drugs":"clopidogrel","pmid":28383427,"phenotype_category":"Efficacy","significance":"yes","notes":"in Chinese patients with acute coronary syndrome undergoing PCI. This variant is also called P2RY12 C34T.","sentence":"Genotypes AA + AG is associated with increased resistance to clopidogrel as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694879,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184513485,"variant_haplotypes":"rs12505410","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"As part of a haplotype with rs2725252. Where response was defined as BCR-ABL/ABL standardized ratio (BCR-ABL^IS) of <=10% at 3 months, <=1% at 12 months and <=0.1% at 18 months. Patients were either taking 400mg/day or 600mg/day dose of imatinib. Those with the G-C haplotype (rs12505410-rs2725252) taking a 400mg/day dose had a significantly better response (under all definitions of response), as compared to those with any other haplotype (i.e. G-A, T-C, T-A). Results were NOT significant for those taking a 600mg/day dose (p=0.209, 0.316 and 0.209, respectively for the different response definitions). Please note that alleles for rs2725252 have been complemented to the plus chromosomal strand.","sentence":"Allele G is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC1754569","article_title":"Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis","article_path":"articles/PMC1754569.md","variant_annotation_id":1444668201,"variant_haplotypes":"rs1800471","gene":"TGFB1","drugs":"etanercept","pmid":12759288,"phenotype_category":"Efficacy","significance":"yes","notes":"When combined with the IL1RN VNTR in intron 2, A2 allele (no rsID available). Those with the CG-A2 positive combined genotype were more likely to be non-responders to treatment, as compared to those with any other combination of genotypes. However, no significant difference in genotype frequencies was seen between responders and non-responders when considering the rs1800471 SNP or IL1RN VNTR alone. Responders defined using the American College of Rheumatology (ACR) response criteria and response criteria based on the modified disease activity score (DAS)28 index. Non-responders failed to fulfill both these criteria.","sentence":"Genotype CG is associated with decreased response to etanercept in people with Arthritis, Rheumatoid as compared to genotype GG.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2492917","article_title":"Lack of tacrolimus circadian pharmacokinetics and CYP3A5 pharmacogenetics in the early and maintenance stages in Japanese renal transplant recipients","article_path":"articles/PMC2492917.md","variant_annotation_id":1183958243,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":18429967,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"No significant differences in dose-adjusted area under the concentration-time curve from 0-12 hours (AUC0-12/D), dose-adjusted trough level (C0/D), dose-adjusted maximum plasma concentration (Cmax/D), body weight-adjusted clearance or AUC0-12 were seen between any of the GG, AG or AA genotypes. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele G is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896111,"variant_haplotypes":"rs2218603","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928280,"variant_haplotypes":"rs6265","gene":"BDNF","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174895,"variant_haplotypes":"rs4877831","gene":"SLC28A3","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. rs4877831 is not associated with metabolism of gemcitabine.","sentence":"Genotype GG is not associated with metabolism of gemcitabine as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767264,"variant_haplotypes":"rs10070381","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10502099","article_title":"Carriers of HLA-DRB1*04:05 have a better clinical response to abatacept in rheumatoid arthritis","article_path":"articles/PMC10502099.md","variant_annotation_id":1452238320,"variant_haplotypes":"HLA-DRB1*04:05","gene":"HLA-DRB1","drugs":"abatacept","pmid":37709837,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by percent change in SDAI after 3 months. \"Of all the HLA-DRB1 alleles, the only one that showed a significant difference in percent change in SDAI after 3 months was HLA-DRB1*04:05, one of the SE alleles in ABT use (28.5% SDAI improvement in HLA-DRB1*04:05 allele non-carriers and 59.8% SDAI improvement in HLA-DRB1*04:05 allele carriers, p\u2009=\u20090.003, false discovery rate\u2009=\u20090.039). \" Not significant for tocilizumab, or TNF inhibitors.","sentence":"HLA-DRB1 *04:05 is associated with increased clinical benefit to abatacept in people with Arthritis, Rheumatoid.","alleles":"*04:05","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452570019,"variant_haplotypes":"rs1143634","gene":"IL1B","drugs":"almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5299197","article_title":"Influence of IL-18 and IL-10 Polymorphisms on Tacrolimus Elimination in Chinese Lung Transplant Patients","article_path":"articles/PMC5299197.md","variant_annotation_id":1448603535,"variant_haplotypes":"rs5744247","gene":"IL18","drugs":"tacrolimus","pmid":28246425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the CC or CG genotypes had higher dose-adjusted trough concentrations of tacrolimus at weeks 1 (p=0.002), 2 (p=0.004), 3 (p=0.005) and 4 (p=0.026) post-transplant as compared to those with the GG genotype. This variant was also analyzed in combination with rs1946518 - patients with <=1 allele (Group 1), patients with 2 alleles (Group 2) and patients with >= 3 alleles (Group 3) were compared. Group 3 had lower dose-adjusted trough concentrations as compared to Groups 1 + 2 (p<0.05); no significant difference was seen between Groups 1 and 2. Additionally, note that this polymorphism had a significant impact among CYP3A5 expressers (rs776746 CT+TT) but NOT among nonexpressers (CC). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CG is associated with increased dose-adjusted trough concentrations of tacrolimus in people with lung transplantation as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557891,"variant_haplotypes":"rs35592","gene":"ABCC1","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501753,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by a lower carbamazepine-10,11-transdihydrodiol:carbamazepine-10-11 epoxide metabolite ratio. This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Genotype TT is associated with decreased metabolism of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700190,"variant_haplotypes":"rs1561876","gene":"RRM1","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"The GG genotype (reported as CC in the paper) was associated with lower intracellular cytarabine levels at day 1 of therapy, inferior response after the first course of remission induction therapy, poor event-free survival and a greater risk of relapse. No multiple testing adjustments were performed: 7 SNPs were investigated.","sentence":"Genotype GG is associated with decreased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC9657232","article_title":"Th2 Cytokines (Interleukin-5 and -9) Polymorphism Affects the Response to Anti-TNF Treatment in Polish Patients with Ankylosing Spondylitis","article_path":"articles/PMC9657232.md","variant_annotation_id":1451939809,"variant_haplotypes":"rs2069885","gene":"IL9","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":36361964,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by reduction in Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) after 12 weeks treatment. Also as measured by reductions in CRP and VAS scores.","sentence":"Genotypes AA + AG is associated with increased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Spondylitis, Ankylosing as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Spondylitis, Ankylosing","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11887086","article_title":"Valproic acid levels in neurodevelopmental disorders: correlation with CYP and SULT genes using LC-MS/MS","article_path":"articles/PMC11887086.md","variant_annotation_id":1453069940,"variant_haplotypes":"CYP2C19*2","gene":"CYP2C19","drugs":"valproic acid","pmid":40055599,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"No significant correlation was observed between VPA plasma concentrations and genotypes of SULT1A1 (p\u2009=\u20090.522), CYP2C192 (p\u2009=\u20090.288), CYP2D64 (p\u2009=\u20090.895), or CYP2D6*10 (p\u2009=\u20090.067).\" \"Sample numbers (2 and 8) have heterozygous abnormal CYP 2C19*2; sample number (2) has a therapeutic VPA level, but sample number (8) has a toxic level of VPA. \"","sentence":"CYP2C19 *2 is not associated with increased concentrations of valproic acid in people with Autism or Intellectual Disability.","alleles":"*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Autism, Other:Intellectual Disability","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10418744","article_title":"Personalized CFTR Modulator Therapy for G85E and N1303K Homozygous Patients with Cystic Fibrosis","article_path":"articles/PMC10418744.md","variant_annotation_id":1452416580,"variant_haplotypes":"rs80034486","gene":"CFTR","drugs":"elexacaftor / tezacaftor / ivacaftor","pmid":37569738,"phenotype_category":"Efficacy","significance":"not stated","notes":"\"Elexacaftor/tezacaftor/ivacaftor (ETI) therapy improves clinical outcomes in the N1303K/N1303K patient.\"","sentence":"Genotype GG is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032487,"variant_haplotypes":"rs2378676","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rs4358872, rs1948308, and rs4877900 (r^2>0.7). Alleles were reported as T/G, here they are complemented with A representing T and C representing G.","sentence":"Genotype AA is associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863330,"variant_haplotypes":"rs2236225","gene":"MTHFD1","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":"This was considered a proxy SNP to compare with rs17850560 (MTHFD1:1958G>A) that has previously been shown to be involved in methotrexate efficacy.","sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672684,"variant_haplotypes":"rs571335587","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3320544","article_title":"Effects of genetic variation in H3K79 methylation regulatory genes on clinical blood pressure and blood pressure response to hydrochlorothiazide","article_path":"articles/PMC3320544.md","variant_annotation_id":981239001,"variant_haplotypes":"rs2269879","gene":"DOT1L","drugs":"hydrochlorothiazide","pmid":22440088,"phenotype_category":"Efficacy","significance":"no","notes":"More than 90% of participants were receiving 25 mg/day HCTZ (the rest received 12.5 mg/day). The direction of association in GERA Whites was the same as in PEAR Whites, but in GERA, the association was not significant. [stat_test:linear regression].","sentence":"Genotypes CT + TT are not associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693775,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype frequencies was seen between those who were responders to treatment and those who were non-responders. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation.","sentence":"Genotype GG is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4598210","article_title":"A proposal for an individualized pharmacogenetic-guided isoniazid dosage regimen for patients with tuberculosis","article_path":"articles/PMC4598210.md","variant_annotation_id":1448261868,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"isoniazid","pmid":26491254,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Serum concentrations of isoniazid were significantly lower in NAT2 rapid acetylators (2.55 mg/L) as compared to slow acetylators (6.78 mg/L). Slow acetylators were defined as those with any two slow alleles. Intermediate and rapid acetylators were defined as those with one or two wild-type NAT*4 alleles, respectively. The authors also provided suggested doses for individuals based on NAT2 acetylator status and weight. Those with genotype-based dosing were more frequently in the therapeutic range as compared to those given standard dosing.","sentence":"NAT2 slow acetylator is associated with decreased concentrations of isoniazid in people with Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} -{"pmcid":"PMC2681284","article_title":"Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate","article_path":"articles/PMC2681284.md","variant_annotation_id":769173669,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":19193698,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3454958","article_title":"FSH receptor gene polymorphisms have a role for different ovarian response to stimulation in patients entering IVF/ICSI-ET programs","article_path":"articles/PMC3454958.md","variant_annotation_id":1452488100,"variant_haplotypes":"rs6166","gene":"FSHR","drugs":"gonadotropin,chorionic","pmid":16758348,"phenotype_category":"Dosage","significance":"yes","notes":"In patients with ovarian dysfunction. SNP referred to as Ser680Asn in the paper and mapped to rs6166 by PharmGKB.","sentence":"Genotype CC is associated with increased dose of gonadotropin,chorionic in women as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10275785","article_title":"Effect of NLRP3 inflammasome genes polymorphism on disease susceptibility and response to TNF-\u03b1 inhibitors in Iraqi patients with rheumatoid arthritis","article_path":"articles/PMC10275785.md","variant_annotation_id":1452143400,"variant_haplotypes":"rs4612666","gene":"NLRP3","drugs":"etanercept, infliximab","pmid":37332933,"phenotype_category":"Efficacy","significance":"yes","notes":"Responders = \u0394DAS-28 \u2265 1.2 and DAS-28 \u2264 3.2, Non-responders = \u0394DAS-28 \u2264 1.2 and DAS28 \u2264 5.1 (Table 1)","sentence":"Genotype TT is associated with decreased response to etanercept or infliximab in people with Arthritis, Rheumatoid as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930512,"variant_haplotypes":"rs7184292","gene":null,"drugs":"atenolol","pmid":29650764,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype GG is associated with decreased dose of atenolol in people with Hypertension as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433582,"variant_haplotypes":"rs76966440","gene":"ILF3","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele T is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4533232","article_title":"Investigation of CYP 3A5 and ABCB1 gene polymorphisms in the long-term following renal transplantation: Effects on tacrolimus exposure and kidney function","article_path":"articles/PMC4533232.md","variant_annotation_id":1447674267,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":26622455,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Patients with the *1/*3 genotype had decreased dose-adjusted trough concentrations of tacrolimus at 6, 12 and 24 months post-transplant. Results were also significant in multivariate analysis (p<0.01). They also had increased dose requirements at 6 and 12 months post-transplant; no significant results were seen at 24 months post-transplant. Additionally, no significant results were seen at any of these three months for trough concentrations.","sentence":"CYP3A5 *1/*3 is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4573240","article_title":"Genome-wide association study of warfarin maintenance dose in a Brazilian sample","article_path":"articles/PMC4573240.md","variant_annotation_id":1446534354,"variant_haplotypes":"rs9332238","gene":"CYP2C9","drugs":"warfarin","pmid":26265036,"phenotype_category":"Dosage","significance":"yes","notes":"The G allele was strongly associated with high warfarin dose (G allele, OR: 6.8 [5.0\u20139.1]; p = 4.4 \u00d7 10-13) in Brazilian patients. This variant is in virtually perfect LD with CYP2C9*2 (rs1799853) and CYP2C9*3 (rs1057910).","sentence":"Allele G is associated with increased dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164090,"variant_haplotypes":"rs2645400","gene":"GATA4","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"no","notes":"Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Allele G is not associated with dose of warfarin as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11481807","article_title":"Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder","article_path":"articles/PMC11481807.md","variant_annotation_id":1452647540,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"escitalopram","pmid":39407134,"phenotype_category":"Efficacy","significance":"no","notes":"\"No significant differences were observed in the distribution of predicted CYP2C19 and CYP2D6 metabolizer phenotypes between responder and non-responder groups.\"","sentence":"CYP2C19 poor metabolizer is not associated with decreased response to escitalopram in people with Major Depressive Disorder as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3376437","article_title":"Influence of SLCO1B3 haplotype-tag SNPs on docetaxel disposition in Chinese nasopharyngeal cancer patients","article_path":"articles/PMC3376437.md","variant_annotation_id":827784603,"variant_haplotypes":"rs4149118","gene":"SLCO1B3","drugs":"docetaxel","pmid":21995462,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"Significance as part of a haplotype with rs7311358, rs11045585 and rs3834935.","sentence":"Allele G is associated with decreased clearance of docetaxel in people with Nasopharyngeal Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560343,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In patients with the AA and AG genotype, steady-state measured and dose-adjusted lamotrigine trough concentration was higher in those administered lamotrigine as compared to the GG genotype and lower in those administered lamotrigine only as compared to the GG genotype.","sentence":"Allele T is associated with increased concentrations of lamotrigine in people with Epilepsy as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9841299","article_title":"Impact of NFIB and CYP1A variants on clozapine serum concentration\u2014A retrospective naturalistic cohort study on 526 patients with known smoking habits","article_path":"articles/PMC9841299.md","variant_annotation_id":1451894000,"variant_haplotypes":"rs2472297","gene":"CYP1A1","drugs":"clozapine","pmid":36152308,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes","sentence":"Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2830602","article_title":"The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men","article_path":"articles/PMC2830602.md","variant_annotation_id":1451114623,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir","pmid":20078617,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Trough concentrations of lopinavir were significantly increased in patients with the CT genotype compared to TT and in the CC genotype compared to CT. Patients were treated with lopinavir/ritonavir, but no corresponding increase in trough concentrations was observed with ritonavir. Variant referred to in the paper as 521T>C.","sentence":"Genotypes CC + CT are associated with increased trough concentration of lopinavir in men with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973860,"variant_haplotypes":"rs11015149","gene":"APBB1IP","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":"was significant in dominant and co-dominant models in discovery. This was not replicated.","sentence":"Genotypes AA + AC is associated with increased resistance to clopidogrel in people with Coronary Disease as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046461,"variant_haplotypes":"rs1047768","gene":"ERCC5","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele C is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC1975838","article_title":"Genetic-based dosing in orthopedic patients beginning warfarin therapy","article_path":"articles/PMC1975838.md","variant_annotation_id":1450979180,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":17387222,"phenotype_category":"Dosage","significance":"yes","notes":"\"Haplotype A\" (defined by rs9923231A and elsewhere defined to = H1 and H2) was associated with 10.7%(95% CI 2.0 - 18.6%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy as compared to \"Haplotype B\" (defined as H7,H8,H9 elsewhere). There were 4 patients missing data for rs9923231, and for these cases haplotype was based on rs8050894 on the basis of high pairwise linkage disequilibrium.","sentence":"Allele A is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:total knee or hip arthroplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934488,"variant_haplotypes":"rs28935490","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the A allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Asp313Tyr in the paper and was only found in combination with the Gly271Ser variant.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5558541","article_title":"Rooted in risk: genetic predisposition for low-density lipoprotein cholesterol level associates with diminished low-density lipoprotein cholesterol response to statin treatment","article_path":"articles/PMC5558541.md","variant_annotation_id":1448263689,"variant_haplotypes":"rs4420638","gene":"APOC1","drugs":"hmg coa reductase inhibitors","pmid":27648687,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by lesser reductions in LDL-C. These individuals were also more likely to start out with higher LDL-C before treatment.","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors in people with Cardiovascular Diseases or Hypercholesterolemia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease, Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147629,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"amlodipine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Clearance was decreased in the presence of CYP3A5 variants. Statistical analysis was not carried out due to the low number of subjects carrying CYP3A4 variants. *3 allele was identified using rs776746, *6 was identified using rs10264272 and *7 was identified using rs41303343.","sentence":"CYP3A5 *3 + *6 + *7 are associated with decreased clearance of amlodipine in healthy individuals as compared to CYP3A5 *1.","alleles":"*3 + *6 + *7","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4949007","article_title":"CYP2D6 function moderates the pharmacokinetics and pharmacodynamics of 3,4-methylene-dioxymethamphetamine in a controlled study in healthy individuals","article_path":"articles/PMC4949007.md","variant_annotation_id":1448109167,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"3,4-methylenedioxymethamphetamine","pmid":27253829,"phenotype_category":"Efficacy","significance":"yes","notes":"Elevations in systolic blood pressure were greater in PMs compared with IMs (P = 0.02, *4/*10(6) *4/*41(4) *5/*10(2) *5/*41(1) *10/*41(4) *10/*10(1) *4/*9 (1)) and EMs (P = 0.01, *1/*3(2) *1/*6(2) *2/*4(15) *2/*5(1) *9/*10(2); *1/*41(4) *1/*10(2) *1/*9(3) *2/*10(3) *2/*41(5); *1/*1(22) *1/*2(23) *2/*2(16) *1/*4 (11)) at 0.6 h (F2,135 = 3.50, P = 0.03) and also tended to be greater at 1 h (F2,135 = 2.49, P = 0.09).","sentence":"CYP2D6 *4/*4 + *3/*5 is associated with increased response to 3,4-methylenedioxymethamphetamine as compared to CYP2D6 *1/*4 + *1/*3 + *1/*6 + *2/*4 + *2/*5 + *9/*10 + *1/*41 + *1/*10 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2.","alleles":"*4/*4 + *3/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*4 + *1/*3 + *1/*6 + *2/*4 + *2/*5 + *9/*10 + *1/*41 + *1/*10 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752077,"variant_haplotypes":"rs17343066","gene":"SLC28A3","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype AA is associated with increased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677364,"variant_haplotypes":"rs700518","gene":"CYP19A1","drugs":"triglycerides","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole alone or with lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in triglycerides of 32.3 mg/dL (SE 8.4).","sentence":"Allele C is associated with decreased concentrations of triglycerides in women with Breast Neoplasms and Menopause as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634111,"variant_haplotypes":"rs221903","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend but significance was not attained. Observations: 1.77 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA, 0.08 mm Hg decreased reduction of diastolic blood pressure per T allele in NORDIL, and 1.15 mm Hg decreased reduction of diastolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is associated with decreased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310608,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele A is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10834390","article_title":"Genome-Wide Association Study Identifies Pharmacogenomic Variants Associated With Metformin Glycemic Response in African American Patients With Type 2 Diabetes","article_path":"articles/PMC10834390.md","variant_annotation_id":1452234140,"variant_haplotypes":"rs143276236","gene":"ARFGEF3","drugs":"metformin","pmid":37639712,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in A1C. \"Among individuals with; >425 mg/day average daily exposure to; metformin, individuals with the ARFGEF3; rs143276236 CC genotype had an average absolute HbA1c reduction of 0.59% whereas individuals with the AC genotype; had an average absolute HbA1c reduction; of 0.28%; these differences were statistically significant\"","sentence":"Genotype AC is associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11317398","article_title":"Genetic variability in the glucocorticoid pathway and treatment outcomes in hospitalized patients with COVID-19: a pilot study","article_path":"articles/PMC11317398.md","variant_annotation_id":1452563080,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"dexamethasone","pmid":39135792,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. \"The median duration of hospitalization in the carriers of CYP3A4 rs35599367TC genotype was 16 days longer when compared to the carriers of the CC genotype (p adj = 0.022) (Table 4).\"","sentence":"Genotype AG is associated with increased time to response to dexamethasone in people with COVID-19 as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"time to response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:COVID-19","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451105001,"variant_haplotypes":"rs222741","gene":"TRPV1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767269,"variant_haplotypes":"rs35397194","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821830,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"ritonavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CC + CT are not associated with concentrations of ritonavir in children with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699022,"variant_haplotypes":"rs755722","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5721751","article_title":"Genetic Variants Associated With Uncontrolled Blood Pressure on\u00a0Thiazide Diuretic/\u03b2\u2010Blocker Combination Therapy in the PEAR (Pharmacogenomic Evaluation of Antihypertensive Responses)\u00a0and INVEST (International Verapamil\u2010SR Trandolapril Study) Trials","article_path":"articles/PMC5721751.md","variant_annotation_id":1449576280,"variant_haplotypes":"rs261316","gene":"ALDH1A2","drugs":"atenolol, hydrochlorothiazide","pmid":29097388,"phenotype_category":"Efficacy","significance":"yes","notes":"T allele associated with increased odds of uncontrolled blood pressure following thiazide diuretic/beta-blocker combination therapy. Variant only reached suggestive significance in discovery GWAS. Consistent direction of association found across discovery and replication cohorts and approached genome-wide significance in meta-analysis of all cohorts.","sentence":"Allele T is associated with decreased response to atenolol and hydrochlorothiazide in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4011617","article_title":"PPAR-\u03b32 and PTPRD gene polymorphisms influence type 2 diabetes patients' response to pioglitazone in China","article_path":"articles/PMC4011617.md","variant_annotation_id":1450814910,"variant_haplotypes":"rs17584499","gene":"PTPRD","drugs":"pioglitazone","pmid":23147557,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype showed significantly greater decreases in postprandial plasma glucose levels after 3 months of pioglitazone treatment. However, changes in other biochemical measures were not significant.","sentence":"Genotype CC is associated with increased response to pioglitazone in people with Diabetes Mellitus, Type 2 as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666944,"variant_haplotypes":"rs16861194","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotype AG are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826746,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"no","notes":"Subgroup analysis of bipolar disorder patients only found no significant difference in number of cigarettes smoked per day between genotype groups.","sentence":"Genotypes AA + AG are not associated with exposure to nicotine in people with Bipolar Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5324942","article_title":"The effect of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirements in a pediatric population","article_path":"articles/PMC5324942.md","variant_annotation_id":1448104659,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":27182616,"phenotype_category":"Dosage","significance":"no","notes":"The average daily warfarin dose required for maintenance therapy in patients with the CYP2C9*2 was 3.67\u00b11.38, whereas it was 4.35\u00b11.25 in those without this mutation.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin in children as compared to CYP2C9 *1/*1.","alleles":"*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2757009","article_title":"\u03b21-adrenoceptor genetic varians and ethnicity independently affect response to \u03b2-blockade","article_path":"articles/PMC2757009.md","variant_annotation_id":1450944900,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"atenolol","pmid":18794726,"phenotype_category":"Efficacy","significance":"yes","notes":"b1-AR Arg389 was independently associated with a greater reduction in heart rate area under the curve after exercise-induced tachycardia.","sentence":"Allele C is associated with increased response to atenolol in healthy individuals as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3579501","article_title":"Novel Polymorphisms Associated with Tacrolimus Trough Concentrations: Results from a Multicenter Kidney Transplant Consortium","article_path":"articles/PMC3579501.md","variant_annotation_id":827698530,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21206424,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":"T defines *1.","sentence":"Genotypes CT + TT are associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902837,"variant_haplotypes":"rs12346562","gene":null,"drugs":"atenolol","pmid":26425837,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele of SNP rs12346562 was associated with better DBP response to atenolol, but with less pronounced response to hydrochlorothiazide. White participants with rs12346562 AA, AC, and CC genotypes had mean DBP responses of -15.0,-11.2, and -9.4 mmHg to atenolol (P=3.2x10-6, b=-2.4 mmHg; per A allele).","sentence":"Genotypes AA + AC is associated with increased response to atenolol in people with Hypertension as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452240860,"variant_haplotypes":"rs16947","gene":"CYP2D6","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Dosage","significance":"yes","notes":"\"In our study, homozygous carriers of the major allele (GG) took larger effective doses than those either heterozygous (GA) or homozygous for the minor allele (AA) (39.22 \u00b1 11.76 vs. 34.84 \u00b1 8.09, p = 0.02). The results revealed that carriers of the minor allele A) required less DXM to induce sedation.\"","sentence":"Genotype GG is associated with increased dose of dexmedetomidine in people with surgery as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC10349379","article_title":"Genetic Factors Associated with Morphine Consumption in Women Undergoing Laparoscopic Cholecystectomy: A Prospective Cohort Study","article_path":"articles/PMC10349379.md","variant_annotation_id":1452192666,"variant_haplotypes":"rs2952768","gene":"METTL21A","drugs":"morphine","pmid":37456358,"phenotype_category":"Dosage","significance":"yes","notes":"All patients were Arab women undergoing laparoscopic cholecystectomy. \"Both OPRM1 (rs1799971, A>G), and rs2952768 (T>C) showed statistically significant association with IO total morphine dose requirements.\"\"patients homozygous for the rs2952768 (T>C) minor allele (CC) had a higher mean rank compared to the other genotypes\"","sentence":"Genotype CC is associated with increased dose of morphine in women with Pain, Postoperative as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6475679","article_title":"Evaluating metronidazole as a novel, safe CYP2A6 phenotyping probe in healthy adults","article_path":"articles/PMC6475679.md","variant_annotation_id":1451162952,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*9, CYP2A6*17","gene":"CYP2A6","drugs":"metronidazole","pmid":30706508,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Metabolite ratios for metronidazole were significantly reduced in reduced metabolizers compared to normal metabolizers. Subjects were genotyped for the *2, *4, *7, *9, *12, *17, *20, *23-*28, *31 and *35 alleles, although no details of rsIDs are given. No participants were found to have the *7 allele, so no testing for the *8 or *10 alleles was carried out.","sentence":"CYP2A6 *1/*2 + *1/*9 + *1/*17 (assigned as reduced metabolizers phenotype) are associated with decreased metabolism of metronidazole in healthy individuals as compared to CYP2A6 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*9 + *1/*17","specialty_population":null,"metabolizer_types":"reduced metabolizers","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451673060,"variant_haplotypes":"rs150247689","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is not associated with metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359149,"variant_haplotypes":"rs129882","gene":"DBH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele T is not associated with response to heroin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5427048","article_title":"The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients","article_path":"articles/PMC5427048.md","variant_annotation_id":1448603849,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":28229376,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For 1 year post-transplantation, CYP3A5*1 carriers had a 62% lower median tacrolimus Co/D compared with homozygote carriers of the CYP3A5*3 allele (1.34 vs 3.53 ng/ml/mg).","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC10675623","article_title":"Association of ABCB1 Polymorphisms with Efficacy and Adverse Drug Reactions of Valproic Acid in Children with Epilepsy","article_path":"articles/PMC10675623.md","variant_annotation_id":1452308643,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"valproic acid","pmid":38004402,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. \"Moreover, recessive model analysis showed that the TT genotype had a higher frequency in the persistent seizure group compared with genotypes carrying at least one C allele (OR = 0.45, 95% CI = 0.24\u20130.85, p = 0.013),\"","sentence":"Genotype AA is associated with decreased clinical benefit to valproic acid in children with Epilepsy as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3245828","article_title":"A Common \u03b21-Adrenergic Receptor Polymorphism Predicts Favorable Response to Rate Control Therapy in Atrial Fibrillation","article_path":"articles/PMC3245828.md","variant_annotation_id":827816261,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"atenolol, carvedilol, diltiazem, metoprolol, verapamil","pmid":22192668,"phenotype_category":"Efficacy","significance":"yes","notes":"Reported as Gly389 carriers being more likely to respond favorably to ventricular rate control therapy and requiring the lowest doses of rate control medication compared to Arg389Arg (60 % vs 51 %). GC SNP; be careful. Gly corresponds to G on the + strand. [stat_test: chi square].","sentence":"Genotypes CG + GG are associated with increased response to atenolol, carvedilol, diltiazem, metoprolol or verapamil in people with Atrial Fibrillation as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567655,"variant_haplotypes":"rs28371759","gene":"CYP3A4","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AA are associated with decreased dose of warfarin in people with heart valve replacement as compared to genotype AG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5963414","article_title":"Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson\u2019s disease","article_path":"articles/PMC5963414.md","variant_annotation_id":1444699815,"variant_haplotypes":"rs3836790","gene":"SLC6A3","drugs":"levodopa","pmid":25805645,"phenotype_category":"Efficacy","significance":"yes","notes":"SLC6A3 rs3836790 genotype was significantly associated with the number of freezing of gait episodes, the number of steps and the completion time (with P-values of 0.004, 0.02 and 0.016, respectively). A multivariate analysis adjusted for age, gender, weight, disease duration and l-DOPA equivalent daily dose (or l-DOPA daily dose) revealed significant associations for the number of steps (P = 0.0005) the completion time (P = 0.001) and the number of freezing of gait episodes (P = 0.004).","sentence":"Genotype ACATACACACTCAGACACACATACCATGCA/ACATACACACTCAGACACACATACCATGCA is associated with increased response to levodopa in people with Parkinson Disease as compared to genotypes ACATACACACTCAGACACACATACCATGCA/del + del/del.","alleles":"ACATACACACTCAGACACACATACCATGCA/ACATACACACTCAGACACACATACCATGCA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Parkinson Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ACATACACACTCAGACACACATACCATGCA/del + del/del","comparison_metabolizer_types":null} -{"pmcid":"PMC4154311","article_title":"A randomized placebo-controlled trial of ataluren for the treatment of nonsense mutation cystic fibrosis","article_path":"articles/PMC4154311.md","variant_annotation_id":1447952414,"variant_haplotypes":"rs74597325","gene":"CFTR","drugs":"ataluren","pmid":24836205,"phenotype_category":"Efficacy","significance":"no","notes":"Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.","sentence":"Allele T is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501801,"variant_haplotypes":"rs4148739","gene":"ABCB1","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by a lower carbamazepine-10,11-transdihydrodiol:carbamazepine-10-11 epoxide metabolite ratio. This association was only significant in the African American patients and not in Caucasian patients.","sentence":"Genotype TT is associated with decreased metabolism of carbamazepine in people with Epilepsy as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003524,"variant_haplotypes":"rs10264272","gene":"CYP3A5","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine was significantly higher in carriers of the T allele as compared to non-carriers.","sentence":"Allele T is associated with increased concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438280,"variant_haplotypes":"rs2829163","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5E-9. This variant was in linkage disequilibrium with rs7282679.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10099095","article_title":"Estimating the In Vivo Function of CYP2D6 Alleles through Population Pharmacokinetic Modeling of Brexpiprazole","article_path":"articles/PMC10099095.md","variant_annotation_id":1452037301,"variant_haplotypes":"CYP2D6*1, CYP2D6*9, CYP2D6*10, CYP2D6*14, CYP2D6*17, CYP2D6*29, CYP2D6*41","gene":"CYP2D6","drugs":"brexpiprazole","pmid":36350097,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients and healthy individuals from clinical studies. \"Among the decreased function alleles, the following; enzyme activities relative to CYP2D6*1 were estimated: 23% for CYP2D6*9 (n = 20), 32% for CYP2D6*10 (n = 62),; 64% for CYP2D6*14 (n = 1), 4% for CYP2D6*17 (n = 37), 4% for CYP2D6*29 (n = 13), and 9% for CYP2D6*41 (n = 64). \"","sentence":"CYP2D6 *9 +*10 + *14 + *17 + *29 + *41 is associated with decreased metabolism of brexpiprazole as compared to CYP2D6 *1.","alleles":"*9 +*10 + *14 + *17 + *29 + *41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375594,"variant_haplotypes":"rs10802887","gene":"GREM2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele G is associated with increased response to allopurinol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC1963422","article_title":"Modelling the influence of MDR1 polymorphism on digoxin pharmacokinetic parameters","article_path":"articles/PMC1963422.md","variant_annotation_id":982037228,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"digoxin","pmid":17404720,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AA homozygotes had a lower apparent volume of distribution compared to carriers of the G allele. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with decreased clearance of digoxin in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2883666","article_title":"Replicated Association between an IL28B Gene Variant and a Sustained Response to Pegylated Interferon and Ribavirin","article_path":"articles/PMC2883666.md","variant_annotation_id":981501267,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":20176026,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Treatment was with peginterferon - the type not specified. The association was with SVR(sustained virological response) [undetectable levels of HCV RNA 24 weeks after end of treatment].","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b or ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3625373","article_title":"The Missing Association: Sequencing-Based Discovery of Novel SNPs in VKORC1 and CYP2C9 That Affect Warfarin Dose in African Americans","article_path":"articles/PMC3625373.md","variant_annotation_id":769245708,"variant_haplotypes":"rs7089580","gene":"CYP2C9","drugs":"warfarin","pmid":21270790,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with increased dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165223,"variant_haplotypes":"rs784892","gene":"AMHR2","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to metformin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11082567","article_title":"The Association Between Clozapine Plasma Concentration, CYP2D6 (*10, *2) Polymorphisms and Risk of Adverse Reactions","article_path":"articles/PMC11082567.md","variant_annotation_id":1452487142,"variant_haplotypes":"rs16947","gene":"CYP2D6","drugs":"clozapine","pmid":38765922,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Compared with the corresponding groups, the clozapine plasma concentrations of individuals with the *10TT genotype and individuals with the *2CC genotype were the highest (P < .05). \"","sentence":"Genotype GG is associated with increased concentrations of clozapine in people with Schizophrenia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560356,"variant_haplotypes":"rs2011425","gene":"UGT1A4","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170917,"variant_haplotypes":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A4","drugs":"tamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479749,"variant_haplotypes":"rs6002616","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9450009","article_title":"Hispanic ethnicity and the rs4880 variant in SOD2 are associated with elevated liver enzymes and bilirubin levels in children receiving asparaginase-containing chemotherapy for acute lymphoblastic leukemia","article_path":"articles/PMC9450009.md","variant_annotation_id":1451804900,"variant_haplotypes":"rs4880","gene":"SOD2","drugs":"bilirubin","pmid":35658244,"phenotype_category":"Toxicity","significance":"yes","notes":"when treated with asparaginase. ALT and AST were also significantly elevated but it was not significantly associated with hepatotoxicity. Alleles complemented to plus chromosomal strand.","sentence":"Genotype GG is associated with increased concentrations of bilirubin in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC6654446","article_title":"Gender\u2010specific association between preproendothelin\u20101 genotype and reduction of systolic blood pressure during antihypertensive treatment\u2010\u2010\u2010results from the Swedish irbesartan left ventricular hypertrophy investigation versus atenolol (SILVHIA)","article_path":"articles/PMC6654446.md","variant_annotation_id":982043089,"variant_haplotypes":"rs5370","gene":"EDN1","drugs":"atenolol, irbesartan","pmid":15188945,"phenotype_category":"Efficacy","significance":"yes","notes":"Men with the GT genotype had a greater reduction in systolic blood pressure (SBP) between baseline and 12 weeks of treatment, as compared to those with the GG genotype. p-value was adjusted for age, dose, and SBP, diastolic blood pressure and left ventricular mass index (LVMI) at baseline.","sentence":"Genotype GT is associated with increased response to atenolol and irbesartan in men with Essential hypertension as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in men with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11603417","article_title":"Novel genomic variants influencing methotrexate delayed clearance in pediatric patients with acute lymphoblastic leukemia","article_path":"articles/PMC11603417.md","variant_annotation_id":1452722790,"variant_haplotypes":"rs16954698","gene":"PKD1L2","drugs":"methotrexate","pmid":39611166,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Of all three patients with PKD1L2 rs16954698, two had delayed MTX clearance with first infusion and one with the third infusion. Compared to the wild-types of this variant, heterozygotes showed statistically significantly worse status in all renal function indices such as Cr, eGFR, BUN, and grade \u22652 AKI after HD-MTX administration (Supplementary Table S5).\" \"Case (MTX, delayed clearance) was defined as serum MTX, level (\u03bcmol/L) at 24 h \u2265 15 or 48 h \u2265 1.5 or 72 h \u2265 0.15 or 168 h \u2265 0.1, otherwise defined as control.\"","sentence":"Allele A is associated with decreased clearance of methotrexate in children with Acute lymphoblastic leukemia as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715975,"variant_haplotypes":"rs3845744","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5877743","article_title":"Prediction of Tacrolimus Exposure by CYP3A5 Genotype and Exposure of Co-Administered Everolimus in Japanese Renal Transplant Recipients","article_path":"articles/PMC5877743.md","variant_annotation_id":1449748025,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"everolimus","pmid":29547545,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose-adjusted area under the blood concentration-time curve (AUC/D) or dose-adjusted trough concentration (C0/D) was seen between the genotypes either at 1 month (p=0.915 and p=0.816, respectively) or 1 year (p=0.708 and p=0.540, respectively) post-transplant. Everolimus was given on day 14 of tacrolimus treatment. Note that at 1 year post-transplant only 31 patients remained for analysis.","sentence":"CYP3A5 *3/*3 is not associated with metabolism of everolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767397,"variant_haplotypes":"rs2378597","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983283,"variant_haplotypes":"rs49411","gene":"FHIT","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here. Response measured at >50% reduction in symptoms at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele C is associated with decreased response to antidepressants in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6942309","article_title":"Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene","article_path":"articles/PMC6942309.md","variant_annotation_id":1452829980,"variant_haplotypes":"ABCG5 deficiency","gene":"ABCG5","drugs":"ezetimibe","pmid":31901240,"phenotype_category":"Efficacy","significance":"yes","notes":"\"ezetimibe-atorvastatin combination therapy might be more beneficial in hypercholesterolemic patients with a mutation in ABCG5 or ABCG8 gene.\" Variants identified were c.348C\u2009>\u2009A (p.Asn116Lys), c.635-1G\u2009>\u2009A, c.1166G\u2009>\u2009A (p.Arg389His), c.1673_1677delCTTTT (p.Pro558GlnfsTer14) (unable to map to ClinVar or dbSNP as this time)","sentence":"ABCG5 deficiency is associated with increased clinical benefit to ezetimibe in people with Familial hypercholesterolemia.","alleles":null,"specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Familial hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11558073","article_title":"The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy","article_path":"articles/PMC11558073.md","variant_annotation_id":1452709360,"variant_haplotypes":"rs3892097","gene":"CYP2D6","drugs":"valproic acid","pmid":39539630,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Carriers of rs3892097 (CYP2D6) constituted 26.67% of the treatment failure group compared to 14.15% of the treatment success group (p = 0.047). The multivariate OR adjusted for maintenance VPA dose was 0.389 [0.169; 0.894] (p = 0.026), indicating that patients experiencing treatment failure were approximately 2.5 times more likely to carry this polymorphism. This underscores the detrimental effect of rs3892097 (CYP2D6) on the success rate of VPA monotherapy. No other SNPs showed significant associations with treatment outcome (Figure 1; Supplementary Table S2).\"","sentence":"Genotypes CT + TT is associated with decreased clinical benefit to valproic acid in people with Epilepsy as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046660,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Daily dose of phenprocoumon is not significantly associated with CYP2C9 genotype. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This haplotype is significantly associated with higher phenprocoumon concentration as compared to patients with the wildtype haplotype.","sentence":"CYP2C9 *2 + *3 are associated with decreased metabolism of phenprocoumon as compared to CYP2C9 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359381,"variant_haplotypes":"rs6347","gene":"SLC6A3","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of heroin in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163216,"variant_haplotypes":"rs2070673","gene":"CYP2E1, DUX1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4500334","article_title":"Pharmacogenetics of plasma efavirenz exposure in HIV-infected adults and children in South Africa","article_path":"articles/PMC4500334.md","variant_annotation_id":1446905193,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":25611810,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considered as part of a composite (rs3745274 T, rs28399499 C, and rs4803419 T), the T allele was strongly associated with plasma efavirenz concentrations (plasma [EFV]) [beta=0.28, 95% CI (0.21, 0.35) p=2.4 E-11]. In a final multivariable model the T allele was associated with a 31% increased in plasma [EFV] (beta=0.27). Post-hoc sensitivity analysis, in which two extreme outliers were excluded from analysis (N=111), showed that the T allele was associated with a 33% increase in plasma [EFV]. Multi-level mixed effects models predicted plasma [EFV] as a function of 1) fixed age effect, time after dose, CYP2B6 composite genotype T,C,T and 2) random effects of the individual to account for w/in individual correlations, the genotypes TT and GT were associated with a 2.9 fold increase in and a 1.5 fold increase in plasma [EFV], respectively.","sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3944116","article_title":"Effect of CYP3A4*22, CYP3A5*3, and CYP3A Combined Genotypes on Cyclosporine, Everolimus, and Tacrolimus Pharmacokinetics in Renal Transplantation","article_path":"articles/PMC3944116.md","variant_annotation_id":1184470941,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"everolimus, tacrolimus","pmid":24522145,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 *1/*1 is not associated with clearance of everolimus or tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*22 + *22/*22.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*22 + *22/*22","comparison_metabolizer_types":null} -{"pmcid":"PMC11315837","article_title":"A Semi-Mechanistic Population Pharmacokinetic Model of Noscapine in Healthy Subjects Considering Hepatic First-Pass Extraction and CYP2C9 Genotypes","article_path":"articles/PMC11315837.md","variant_annotation_id":1452491080,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*9","gene":"CYP2C9","drugs":"noscapine","pmid":38809387,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Signifcant diferences; were observed only between genotype-predicted phenotype; groups of CYP2C9 when comparing Cmax (p values, 0.00091; and 0.00013) and AUC0\u2013t; (p values, 0.0047 and 0.00096) for; EMs with IMs (AS of 1.5) and EMs with PMs & IMs (AS; of 1.0), respectively.\"","sentence":"CYP2C9 *1/*1 + *1/*9 (assigned as normal metabolizer phenotype) is associated with increased clearance of Noscapine in healthy individuals as compared to CYP2C9 *1/*2 + *1/*3 + *2/*3 + *3/*3 (assigned as intermediate metabolizer and poor metabolizer phenotype) .","alleles":"*1/*1 + *1/*9","specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3 + *2/*3 + *3/*3","comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934356,"variant_haplotypes":"rs397515874","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the G allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Leu243Phe.","sentence":"Allele G is associated with increased response to migalastat in people with Fabry Disease.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666816,"variant_haplotypes":"rs2241766","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%). When comparing the response rates between patients with the GT versus TT genotypes, the GT genotypes were associated with a greater frequency of response (52.94% versus 12.7% p=0.001) as well as a greater decrease in HbA1c% as compared to patients with the TT genotype (1.15 versus 0.52 p=0.001). Logistic regression analysis showed that rs2241766 GT genotype was associated with response to pioglitazone. *Please note: there were no individuals of genotype GG.","sentence":"Genotype GT is associated with increased response to pioglitazone in people with Diabetes Mellitus as compared to genotype TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928201,"variant_haplotypes":"rs1800497","gene":"DRD2","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978592,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":15805193,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296627,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"only in European Americans, but not African Americans. (20.6% vs 3.0% dose reduction per variant allele, interaction p value<0.001)","sentence":"CYP2C9 *1/*2 + *2/*2 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5241185","article_title":"Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation","article_path":"articles/PMC5241185.md","variant_annotation_id":1448265990,"variant_haplotypes":"rs77010898","gene":"CFTR","drugs":"ivacaftor","pmid":27707539,"phenotype_category":"Efficacy","significance":"yes","notes":"This study was a cell study and a case report of a woman with AA genotype. FEV1 did not improve, but ivacaftor was associated with better weight gain and fewer months with exacerbations.","sentence":"Genotype AA is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995949,"variant_haplotypes":"rs33980500","gene":"TRAF3IP2","drugs":"etanercept","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"At six months after beginning treatment, a significant association between rs33980500 and decreased response to TNF inhibitors (i.e. etanercapt and adalimumab) in terms of the number of patients in remission (p=0.02, OR=0.09, C.I.=0.01-0.70) or with low disease activity (p=0.013, OR=0.1, C.I.=0.02-0.87) was seen across the whole cohort, but was not seen at two years after beginning treatment and could not be replicated in the subgroups for each individual drug.","sentence":"Allele T is not associated with response to etanercept in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2995295","article_title":"Pharmacogenetic Predictors of Statin-Mediated Low-Density Lipoprotein Cholesterol Reduction and Dose Response","article_path":"articles/PMC2995295.md","variant_annotation_id":827807823,"variant_haplotypes":"rs12003906","gene":"ABCA1","drugs":"atorvastatin, pravastatin, simvastatin","pmid":20031551,"phenotype_category":"Efficacy","significance":"yes","notes":"As measured by reduction in LDLc. Association was seen at low and high doses. Association reported for minor allele but base not specified; estimated from dbSNP to be the C allele (on the plus chromosomal strand).","sentence":"Allele C is associated with decreased response to atorvastatin, pravastatin or simvastatin in people with Hyperlipidemias as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512544,"variant_haplotypes":"rs6785049","gene":"NR1I2","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the GG and AG genotypes of this SNP.","sentence":"Genotype AG is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451918940,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"for S-warfarin stereoisomer in particular, measured as increased S-warfarin/R-warfarin ratio and decreased S-7OH-warfarin/S-warfarin and using a Bonferroni-adjusted replication significance threshold p < 3.21 \u00d7 10\u22124.","sentence":"Allele A is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922843,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"paclitaxel","pmid":22527101,"phenotype_category":"Efficacy","significance":"no","notes":"Response = complete clinical response (cCR). Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel. Also reported as CYP3A4*1B.","sentence":"Genotypes CC + CT are not associated with increased response to paclitaxel in women with Breast Neoplasms as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3755037","article_title":"Multidrug resistance-associated protein 2 (MRP2/ABCC2) haplotypes significantly affect the pharmacokinetics of tacrolimus in kidney transplant recipients","article_path":"articles/PMC3755037.md","variant_annotation_id":1184514507,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23633119,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"CYP3A5*1 carriers showed 2-3 fold lower C0/dose and C2/dose of tacrolimus compared to CYP3A5*3 homozygotes. Population pharmacokinetics modelling using both univariate and multivariate analysis, CYP3A5*1 allele was the significant covariate for pharmacokinetics parameter CL/F.","sentence":"Genotypes CT + TT are associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC1975838","article_title":"Genetic-based dosing in orthopedic patients beginning warfarin therapy","article_path":"articles/PMC1975838.md","variant_annotation_id":1183699325,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":17387222,"phenotype_category":"Dosage","significance":"yes","notes":"T (*2) was associated with 17.4 %(95% CI 8.3-25.6%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy.","sentence":"Allele T is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:total knee or hip arthroplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11246114","article_title":"Association of SLC22A1, SLC47A1, and KCNJ11 polymorphisms with efficacy and safety of metformin and sulfonylurea combination therapy in Egyptian patients with type 2 diabetes","article_path":"articles/PMC11246114.md","variant_annotation_id":1452538740,"variant_haplotypes":"rs5219","gene":"ABCC8, KCNJ11","drugs":"\"metformin\", \"sulfonamides, urea derivatives\"","pmid":39005567,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Relative to the rs5219 EE genotype carriers, the EK and KK genotype carriers responded better to combination therapy.\" However Table 4 shows E as higher frequency in responders than non-responders. Mapped E to C and K to T.","sentence":"Genotypes CT + TT is associated with increased clinical benefit to metformin and sulfonamides, urea derivatives in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4243902","article_title":"Improved prediction of tacrolimus concentrations early after kidney transplantation using theory-based pharmacokinetic modelling","article_path":"articles/PMC4243902.md","variant_annotation_id":1444694209,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":25279405,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were CYP3A5 expressors (CT + TT) had 30% (95% CI = 13, 46%) higher tacrolimus clearance, and 18% (95% CI = 2, 29%) lower tacrolimus bioavailability, as compared to nonexpressors (CC).","sentence":"Genotypes CT + TT is associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3358293","article_title":"Therapeutic Dosing of Acenocoumarol: Proposal of a Population Specific Pharmacogenetic Dosing Algorithm and Its Validation in North Indians","article_path":"articles/PMC3358293.md","variant_annotation_id":981954447,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"acenocoumarol","pmid":22629463,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference was seen between the daily dose for CYP4F2 wildtype patients and the daily dose for CYP4F2 variant carriers. This study provides an algorithm for predicting the maintenance dose of acenocoumarol using genotypes as well as clinical factors as predictive variables.","sentence":"Genotype CC is not associated with decreased dose of acenocoumarol as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3608305","article_title":"Effect of eNOS polymorphisms on salbutamol evoked endothelium dependent vasodilation in South Indian healthy subjects","article_path":"articles/PMC3608305.md","variant_annotation_id":1183682086,"variant_haplotypes":"rs2070744","gene":"NOS3","drugs":"salbutamol","pmid":23543259,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in the change in digital volume pulse parameters - reflection index and stiffness index - before and after salbutamol administration were seen between the two genotype groups. This indicates that this SNP does not affect salbutamol-evoked endothelium-dependent vasodilation.","sentence":"Genotype TT is not associated with response to salbutamol in healthy individuals as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10499425","article_title":"Variant\u2010based heritability assessment of dexmedetomidine and fentanyl clearance in pediatric patients","article_path":"articles/PMC10499425.md","variant_annotation_id":1452141960,"variant_haplotypes":"rs111860321","gene":"CPPED1","drugs":"fentanyl","pmid":37353859,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Data from Table S3, direction of effect and risk allele not clear. Minor allele and frequency stated. Mapped to dbSNP using genomic location 16:12920566:C:T on hg19/GRCh37. \"GWAS failed to identify any variants meeting the genome-wide statistical significance threshold of 5\u2009\u00d7\u200910\u22128\" This is top scoring variant.","sentence":"Allele C is associated with decreased clearance of fentanyl in children with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7028104","article_title":"CYP2B6*6 Genotype Specific Differences in Artemether\u2010Lumefantrine Disposition in Healthy Volunteers","article_path":"articles/PMC7028104.md","variant_annotation_id":1451123305,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"lumefantrine","pmid":31549442,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in in metabolic ratio or any other PK parameters assessed between the genotype groups.","sentence":"CYP2B6 *6/*6 is not associated with metabolism of lumefantrine in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4364852","article_title":"Response to the dipeptidyl peptidase-4 inhibitors in Japanese patients with type 2 diabetes might be associated with a diplotype of two single nucleotide polymorphisms on the interleukin-6 promoter region under a certain level of physical activity","article_path":"articles/PMC4364852.md","variant_annotation_id":1452876807,"variant_haplotypes":"rs1800796","gene":"IL6","drugs":"alogliptin, linagliptin, sitagliptin, teneligliptin, vildagliptin","pmid":25802725,"phenotype_category":"Efficacy","significance":"no","notes":"\"The result showed that the diplotype rs1800796 G/*\u2013rs2097677 A/* had a lower risk for being non-responders than C/C-G/G in the moderate/high group (adjusted odds ratio 0.153, 95% CI 0.044\u20130.535, P = 0.003), but not in the low group (Table6).\"","sentence":"Allele G is associated with increased response to alogliptin, linagliptin, sitagliptin, teneligliptin or vildagliptin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954002,"variant_haplotypes":"rs2279287","gene":"BMAL1","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5167198","article_title":"KLB is associated with alcohol drinking, and its gene product \u03b2-Klotho is necessary for FGF21 regulation of alcohol preference","article_path":"articles/PMC5167198.md","variant_annotation_id":1449270476,"variant_haplotypes":"rs11940694","gene":"KLB","drugs":"ethanol","pmid":27911795,"phenotype_category":"Toxicity","significance":"yes","notes":"A GWAS of variants associated with alcohol drinking found that the A allele was associated with reduced levels of drinking.","sentence":"Allele A is associated with decreased dose of ethanol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7197488","article_title":"Association of Regulatory Genetic Variants for Protein Kinase C \u03b1 with Mortality and Drug Efficacy in Patients with Heart Failure","article_path":"articles/PMC7197488.md","variant_annotation_id":1451133423,"variant_haplotypes":"rs9303504","gene":"PRKCA","drugs":"\"Ace Inhibitors, Plain\", \"Angiotensin II Antagonists\", \"Beta Blocking Agents\"","pmid":31728800,"phenotype_category":"Efficacy","significance":"no","notes":"The authors note that this variant was in strong LD with rs9909004.","sentence":"Allele G is not associated with response to Ace Inhibitors, Plain, Angiotensin II Antagonists or Beta Blocking Agents in people with Heart Failure as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757033,"variant_haplotypes":"rs339097","gene":"CALU","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148576,"variant_haplotypes":"rs7997012","gene":"HTR2A","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to escitalopram in people with Depression as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705526,"variant_haplotypes":"rs7248668","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes AA + AG is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3769669","article_title":"A published pharmacogenetic algorithm was poorly predictive of tacrolimus clearance in an independent cohort of renal transplant recipients","article_path":"articles/PMC3769669.md","variant_annotation_id":1183699973,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":23305195,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Genotype *1/*1 vs *3/*3 was reported. Clearance was estimated using the dose-normalized whole-blood trough concentration. The DeKAF algorithm was tested but it failed to predict tacrolimus clearance in this cohort.","sentence":"CYP3A5 *1/*1 is associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5945500","article_title":"Correlation of MDR1 gene polymorphism with propofol combined with remifentanil anesthesia in pediatric tonsillectomy","article_path":"articles/PMC5945500.md","variant_annotation_id":1449311620,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"propofol, remifentanil","pmid":29755652,"phenotype_category":"Efficacy","significance":"no","notes":"Referred to as 3435 C>T in the paper. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to propofol and remifentanil in children as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170911,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"tamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11003701","article_title":"Escitalopram and sertraline population pharmacokinetic analysis in pediatric patients","article_path":"articles/PMC11003701.md","variant_annotation_id":1452263581,"variant_haplotypes":"CYP2C19 rapid metabolizer","gene":"CYP2C19","drugs":"escitalopram","pmid":37755681,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"On average, poor and intermediate metabolizers had 69% and 20%; slower CL/F relative to normal metabolizers, respectively,; whereas rapid and ultrarapid metabolizers had 18% and; 23% faster CL/F, respectively\"","sentence":"CYP2C19 ultrarapid metabolizer and rapid metabolizer is associated with increased clearance of escitalopram in children as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"ultrarapid metabolizer and rapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3753327","article_title":"Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model","article_path":"articles/PMC3753327.md","variant_annotation_id":1183697701,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":23990957,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP was presented as VKORC1 3730G>A. Patients carrying the T allele showed significantly higher doses of warfarin as compared to patients with the wildtype genotype, CC.","sentence":"Genotypes CT + TT is associated with increased dose of warfarin in people with Cardiovascular Diseases as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4157963","article_title":"TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population","article_path":"articles/PMC4157963.md","variant_annotation_id":1450376124,"variant_haplotypes":"rs1277441","gene":"TAOK3","drugs":"morphine","pmid":24909733,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Association described as 'nominally significant' in the paper and was only seen in European Caucasian patients. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype GG is associated with increased dose of morphine in children with Pain, Postoperative as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC10876746","article_title":"The impact of folate pathway variants on the outcome of methotrexate therapy in rheumatoid arthritis patients","article_path":"articles/PMC10876746.md","variant_annotation_id":1452376480,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":38311638,"phenotype_category":"Efficacy","significance":"yes","notes":"\"This clarified that the 80 AA genotype of RFC1 G80A was linked to a better response to MTX treatment. Multivariate regression analysis confirmed this result. It showed that RFC1 (GA\u2009+\u2009GG) increased the risk of not responding to MTX by 3.838-fold.\" Alleles complemented to plus chromosomal strand.","sentence":"Genotype TT is associated with increased clinical benefit to methotrexate in people with Arthritis, Rheumatoid as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4938133","article_title":"5-HTR1A and 5-HTR2A genetic polymorphisms and SSRI antidepressant response in depressive Chinese patients","article_path":"articles/PMC4938133.md","variant_annotation_id":1452039840,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"citalopram, fluoxetine, paroxetine, sertraline","pmid":27445478,"phenotype_category":"Efficacy","significance":"no","notes":"Response/remission measured using HAMD.","sentence":"Allele T is not associated with response to citalopram, fluoxetine, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5509475","article_title":"ABCB1 Genotype is Associated with Fentanyl Requirements in Critically Ill Children","article_path":"articles/PMC5509475.md","variant_annotation_id":1450826600,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fentanyl","pmid":28388599,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in average FLACC score between genotype groups.","sentence":"Genotype AA is not associated with response to fentanyl in children as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629566,"variant_haplotypes":"CYP2D6*4, CYP2D6*15","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 1 of these 46 was *4/*15.","sentence":"CYP2D6 *4/*15 is associated with decreased metabolism of debrisoquine or dextromethorphan.","alleles":"*4/*15","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2950972","article_title":"Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers","article_path":"articles/PMC2950972.md","variant_annotation_id":1449161532,"variant_haplotypes":"rs963549","gene":"OPRK1","drugs":"nalmefene","pmid":18537939,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to nalmefene in people with Alcoholism as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372675,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"paroxetine","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"A 'good' response was determined as a 50% reduction in symptoms or episode frequency during the course of the illness.","sentence":"Genotype TT is associated with decreased response to paroxetine in people with Bipolar Disorder as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4513254","article_title":"Race influences warfarin dose changes associated with genetic factors","article_path":"articles/PMC4513254.md","variant_annotation_id":1445296652,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":26024874,"phenotype_category":"Dosage","significance":"yes","notes":"in both European Americans and African Americans. However, the dose reduction per variant allele was higher among European Americans (28.3% vs 18.6%, interaction P value=0.002) compared with African Americans.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163596,"variant_haplotypes":"rs10264272","gene":"CYP3A5","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Unlike most of the CYP3A variants, this did not pass validation the authors speculate this is because of low frequency particularly in the AA cohort.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9373641","article_title":"The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study","article_path":"articles/PMC9373641.md","variant_annotation_id":1451445141,"variant_haplotypes":"rs1800545","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":33915198,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of dexmedetomidine in men as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699054,"variant_haplotypes":"rs10858173","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170868,"variant_haplotypes":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A4","drugs":"4-hydroxytamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147580,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the A allele. The A allele is also referred to in the paper as the CYP3A4*22 allele.","sentence":"Allele A is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4762905","article_title":"Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia","article_path":"articles/PMC4762905.md","variant_annotation_id":1445297288,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"doxorubicin, methotrexate, prednisolone, vincristine","pmid":25582575,"phenotype_category":"Efficacy","significance":"no","notes":"No statistically significant differences in relapse risk were found between the alleles or genotypes of rs2032582 G>A/T. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6613715","article_title":"Pharmacogenetic analysis of belimumab fails to identify robust genetic predictors of efficacy in lupus","article_path":"articles/PMC6613715.md","variant_annotation_id":1450415186,"variant_haplotypes":"rs293983","gene":"ANO3","drugs":"belimumab","pmid":31058715,"phenotype_category":"Efficacy","significance":"no","notes":"Confirmatory analysis of the SRI4 end point in an independent phase 3 study of SLE patients from northeast Asia could not confirm evidence of an association between rs293983 and SRI4 response.","sentence":"Allele T is not associated with response to belimumab in people with Lupus erythematosus as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752045,"variant_haplotypes":"rs12067645","gene":"CTPS1","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes AA + AG is associated with increased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2913479","article_title":"Association of Genetic Variation in Cystathionine-\u03b2-Synthase and Arsenic Metabolism","article_path":"articles/PMC2913479.md","variant_annotation_id":769165235,"variant_haplotypes":"rs234709","gene":"CBS","drugs":"Arsenic compounds","pmid":20670920,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"measured as as excreted monomethylarsonic acid.","sentence":"Genotypes CT + TT are associated with increased metabolism of Arsenic compounds as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446754341,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"no","notes":"The genotype was not associated with clinical benefit, progression free survival, or overall survival. However a haplotype containing this variant (haplotype rs1045642 T, rs1128503 T, and rs2032582 T) was significant. Clinical benefit was defined as either partial response or stable disease. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672768,"variant_haplotypes":"rs200554095","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113838,"variant_haplotypes":"rs609148","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4017364","article_title":"IFNL4-\u0394G Genotype Is Associated With Slower Viral Clearance in Hepatitis C, Genotype-1 Patients Treated With Sofosbuvir and Ribavirin","article_path":"articles/PMC4017364.md","variant_annotation_id":1451338240,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"ribavirin, sofosbuvir","pmid":24367041,"phenotype_category":"Efficacy","significance":"yes","notes":"in hepatitis C, genotype-1 patients. Delta-G genotype is also associated with slower viral clearance in hepatitis C, genotype-1 patients treated with sofosbuvir and ribavirin.","sentence":"Genotype GG is associated with decreased response to ribavirin and sofosbuvir in people with Hepatitis C, Chronic as compared to genotypes G/TT + TT/TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + TT/TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10309098","article_title":"Pharmacogenetic interactions of efavirenz or rifampin and isoniazid with levonorgestrel emergency contraception during treatment of HIV or tuberculosis","article_path":"articles/PMC10309098.md","variant_annotation_id":1452472940,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"levonorgestrel","pmid":37306344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Study investigated the effect on steady-state drugs used to treat HIV or tuberculosis on the pharmacokinetics of single dose levonorgestrel. Association found in the cohort treated with Isoniazid and rifampin.; Slow acetylators were defined as being homozygous for the NAT2*5, *6, *7 and/or *14 alleles or being heterozygous at at least 2 loci.","sentence":"NAT2 slow acetylator is associated with decreased clearance of levonorgestrel in women with Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} -{"pmcid":"PMC11421434","article_title":"Exploring Genetic Variants and Platinum Chemotherapy Response in Indonesian Non-Small Cell Lung Cancer Patients: Insights from ERCC2 rs13181","article_path":"articles/PMC11421434.md","variant_annotation_id":1452617220,"variant_haplotypes":"rs13181","gene":"ERCC2","drugs":"Platinum compounds","pmid":39319218,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles complemented. \"Based on the statistical analysis results, no significant association was found with chemotherapy response (P>0,05) (Table 4).\"","sentence":"Genotypes GG + GT is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8184575","article_title":"Effect of race and glucuronidation rates on the relationship between nicotine metabolite ratio and nicotine clearance","article_path":"articles/PMC8184575.md","variant_annotation_id":1451700080,"variant_haplotypes":"rs835309","gene":"UGT2B10","drugs":"nicotine","pmid":33675323,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No effect of the UGT2B10 variant genotypes on the ability of plasma nicotine metabolite ratio to predict nicotine clearance.","sentence":"Allele G is not associated with clearance of nicotine as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756063,"variant_haplotypes":"rs1867380","gene":"AQP9","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114820,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and clearance of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A6986G.","sentence":"Allele C is not associated with clearance of lopinavir or ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144262,"variant_haplotypes":"rs3919583","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954051,"variant_haplotypes":"rs34897046","gene":"CLOCK","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4343187","article_title":"CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy","article_path":"articles/PMC4343187.md","variant_annotation_id":1445402137,"variant_haplotypes":"rs2236196","gene":"CHRNA4","drugs":"varenicline","pmid":25774163,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes AA + AG is not associated with response to varenicline in people with Tobacco Use Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436527,"variant_haplotypes":"rs11854484","gene":"SLC28A2","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373158,"variant_haplotypes":"rs562859","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"Although this SNP initially showed a significant association with both MMT compliance and 'negative rate of morphine urine test', significance in both associations was lost following adjusting for age, sex and methadone dosage.; Note that although this variant is located in MTRF1L, it is discussed in the paper as being an OPRM1 SNP.; Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is not associated with response to methadone in people with Heroin Dependence as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491533,"variant_haplotypes":"rs12069113","gene":"MOV10","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele C is not associated with response to atenolol in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567945,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in log-transformed dose-adjusted trough concentrations (C/D) was seen between any of the genotypes CC, CT or TT. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672772,"variant_haplotypes":"rs772964366","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9601332","article_title":"The Pharmacogenetics of Cannabis in the Treatment of Chronic Pain","article_path":"articles/PMC9601332.md","variant_annotation_id":1451930580,"variant_haplotypes":"rs8065080","gene":"TRPV1","drugs":"cannabinoids","pmid":36292717,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CC homozygous patients for the TRPV1 gene obtained an average pain decrease of 2 VAS points, compared to the 1.3 VAS points of TT homozygotes or CT heterozygotes.\"","sentence":"Genotype CC is associated with increased clinical benefit to cannabinoids in people with Pain as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934449,"variant_haplotypes":"rs1569304898","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Gly85Asp in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703691,"variant_haplotypes":"rs7706429","gene":"FBXL17","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele G is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703313,"variant_haplotypes":"rs1876828","gene":"CRHR1","drugs":"fluticasone propionate","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The minor allele is reported to be associated with increased response. dbSNP lists A as the minor allele in a CEU panel. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele T is associated with increased response to fluticasone propionate in people with Asthma as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479718,"variant_haplotypes":"rs2472300","gene":"CYP1A2","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5152628","article_title":"Genome-wide association study of paliperidone efficacy","article_path":"articles/PMC5152628.md","variant_annotation_id":1449005569,"variant_haplotypes":"rs56240334","gene":"ADCK1","drugs":"paliperidone","pmid":27846195,"phenotype_category":"Efficacy","significance":"no","notes":"Authors suggest this SNP has \"suggestive signals\" since trend in response was seen by reduction in PANSS scores, Marder positive and Marder negative scores and CGI scores although it was not at genome wise significance level and was consistent across all three cohort used in meta-analysis.","sentence":"Allele G is associated with increased response to paliperidone in people with as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3158597","article_title":"Genotype-Guided Tamoxifen Dosing Increases Active Metabolite Exposure in Women With Reduced CYP2D6 Metabolism: A Multicenter Study","article_path":"articles/PMC3158597.md","variant_annotation_id":1448265615,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"endoxifen","pmid":21768473,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median baseline endoxifen concentrations are significantly higher in patients with the extensive metabolizer genotype as compared to those with the intermediate metabolizer (46% higher, p=0.0045) or poor metabolizer (88% higher, p<0.001) genotypes. Additionally, the median endoxifen concentration was 77% lower in poor metabolizers than intermediate metabolizers (p=0.0006). This study looked at whether giving poor and intermediate metabolizers a higher tamoxifen dose resulted in more similar endoxifen concentrations as compared to extensive metabolizers.","sentence":"Genotypes *3 + *4 + *5 + *6 + *9 + *10 + *17 + *29 + *41 (assigned as intermediate metabolizer and poor metabolizer phenotype) are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to genotypes *1 + *2 + *35 (assigned as normal metabolizer phenotype) .","alleles":"*3 + *4 + *5 + *6 + *9 + *10 + *17 + *29 + *41","specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *2 + *35","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340124,"variant_haplotypes":"rs8050894","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 11.7mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes CG + GG are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11730665","article_title":"Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis","article_path":"articles/PMC11730665.md","variant_annotation_id":1453076001,"variant_haplotypes":"rs3765467","gene":"GLP1R","drugs":"sitagliptin","pmid":39792745,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Conversely, patients with the rs3765467 AG genotype in the study group demonstrated a median HbA1c improvement of 1.42 (IQR, 1.22\u20131.68) compared with 1.08 (IQR, 0.97\u20131.15) in the control group (P\u2005=\u2005.023), indicating favorable responses to both treatments.\"","sentence":"Genotype AG is associated with increased response to sitagliptin in people with Diabetes Mellitus, Type 2.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9890192","article_title":"Associations between CES1 variants and dosing and adverse effects in children taking methylphenidate","article_path":"articles/PMC9890192.md","variant_annotation_id":1452009386,"variant_haplotypes":"rs74019272","gene":"CES1","drugs":"methylphenidate","pmid":36741090,"phenotype_category":"Dosage","significance":"no","notes":"Authors never explicitly state which allele is associated with lower dose but do show that it is minor allele in figure 6. The frequencies in gnomAD for all populations show G as major allele and A as minor allele. This was not significant after Benjamini-Hochberg correction for multiple hypothesis testing which the authors state \"may be too stringent\".","sentence":"Genotypes AA + AG is associated with decreased dose of methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11667419","article_title":"Dual single\u2011nucleotide polymorphism biomarker combination for opioid selection to treat cancer pain","article_path":"articles/PMC11667419.md","variant_annotation_id":1452798200,"variant_haplotypes":"rs4778889","gene":"IL16","drugs":"morphine","pmid":39720462,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Morphine tended to provide superior analgesic effect over oxycodone in patients with the IL-16 rs4778889 TT genotype and the CCL11 rs17809012 AG/GG genotype (n=45), while a trend towards a greater analgesic effect of oxycodone was observed in patients with other genotype combinations of these SNPs (n=93) (P=0.0012 for the interaction)\"","sentence":"Genotype TT is associated with increased clinical benefit to morphine in people with Neoplasms and Pain as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171352,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW).","sentence":"CYP3A5 *3/*3 is associated with increased concentrations of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC6142943","article_title":"Association of Genetic Variants With Response to Anti\u2013Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration","article_path":"articles/PMC6142943.md","variant_annotation_id":1449566994,"variant_haplotypes":"rs241692","gene":"FHIT","drugs":"bevacizumab, ranibizumab","pmid":29852030,"phenotype_category":"Efficacy","significance":"no","notes":"The authors performed GWAS in a discovery cohort, and did a replication analysis.","sentence":"Allele G is not associated with response to bevacizumab and ranibizumab in people with as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC8975736","article_title":"Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota","article_path":"articles/PMC8975736.md","variant_annotation_id":1451692692,"variant_haplotypes":"rs76026520","gene":"MACROD2","drugs":"hydrocodone, oxycodone","pmid":35102242,"phenotype_category":"Efficacy","significance":"yes","notes":"variant is described as\"protective\" against poor pain control.","sentence":"Allele G is associated with increased clinical benefit to hydrocodone or oxycodone in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6014560","article_title":"Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes","article_path":"articles/PMC6014560.md","variant_annotation_id":1449295802,"variant_haplotypes":"rs2162145","gene":"CPA6","drugs":"metformin","pmid":29650774,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP is associated with changes in HbA1C in white patients.","sentence":"Allele T is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC1887589","article_title":"A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity","article_path":"articles/PMC1887589.md","variant_annotation_id":981240140,"variant_haplotypes":"rs446112","gene":null,"drugs":"etoposide","pmid":17537913,"phenotype_category":"Other","significance":"yes","notes":null,"sentence":"Genotype AA is associated with increased resistance to etoposide as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032363,"variant_haplotypes":"rs2289658","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction).","sentence":"Genotypes CC + CT are associated with increased dose of methadone in people with Heroin Dependence as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10825484","article_title":"The atorvastatin metabolite pattern in muscle tissue and blood plasma is associated with statin muscle side effects in patients with coronary heart disease; An exploratory case-control study","article_path":"articles/PMC10825484.md","variant_annotation_id":1452373069,"variant_haplotypes":"rs12422149","gene":"SLCO2B1","drugs":"4-hydroxyatorvastatin, 4-hydroxyatorvastatin lactone","pmid":38293288,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Comparison was for \"4-OH-ATV lactone/acid\" vs \"SLCO2B1 c.935 GA\" vs \"No variant\" (SLCO1B1 c.521 TT and SLCO2B1 c.935GG) Supplementary 2-Table 1.","sentence":"Genotype AG is associated with increased concentrations of 4-hydroxyatorvastatin and 4-hydroxyatorvastatin lactone in people with Coronary Disease as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6461793","article_title":"Effects of SLCO1B1 and GATM gene variants on rosuvastatin-induced myopathy are unrelated to high plasma exposure of rosuvastatin and its metabolites","article_path":"articles/PMC6461793.md","variant_annotation_id":1451228580,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"rosuvastatin","pmid":29950617,"phenotype_category":"Metabolism/PK","significance":"no","notes":"SLCO1B1 521T>C (rs4149056) in patients with one or two copies of the variant allele had a significantly high plasma exposure to RST, whereas the significance was not found after multiple testing (Padj = 0.0247, FDR = 0.0988),","sentence":"Genotypes CC + CT are associated with increased concentrations of rosuvastatin as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5795999","article_title":"Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population","article_path":"articles/PMC5795999.md","variant_annotation_id":1452362389,"variant_haplotypes":"rs9471077","gene":"KIF6","drugs":"hmg coa reductase inhibitors","pmid":29295555,"phenotype_category":"Efficacy","significance":"no","notes":"With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.","sentence":"Genotypes AA + AG are not associated with response to hmg coa reductase inhibitors as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5509475","article_title":"ABCB1 Genotype is Associated with Fentanyl Requirements in Critically Ill Children","article_path":"articles/PMC5509475.md","variant_annotation_id":1450826595,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fentanyl","pmid":28388599,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in fentanyl blood levels between genotype groups.","sentence":"Genotype AA is not associated with concentrations of fentanyl in children as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3610685","article_title":"Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 as a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis","article_path":"articles/PMC3610685.md","variant_annotation_id":981939609,"variant_haplotypes":"rs6427528","gene":"CD84","drugs":"etanercept","pmid":23555300,"phenotype_category":"Efficacy","significance":"no","notes":"This association was not significant after correction for multiple testing. p = 8 x 10 (-8); more than 2 x 10(6) SNPs were used.","sentence":"Genotypes AA + AG are associated with increased response to etanercept in people with Arthritis, Rheumatoid as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7375952","article_title":"Genetic variants in CYP2A6 and UGT1A9 genes associated with urinary nicotine metabolites in young Mexican smokers","article_path":"articles/PMC7375952.md","variant_annotation_id":1451409712,"variant_haplotypes":"rs12471326","gene":"UGT1A9","drugs":"cotinine glucuronide","pmid":31959879,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CT is associated with increased concentrations of cotinine glucuronide as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174886,"variant_haplotypes":"rs747199","gene":"SLC29A1","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. No association was found between rs747199 and metabolism of gemcitabine.","sentence":"Genotype GG is not associated with metabolism of gemcitabine as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC6033076","article_title":"Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics","article_path":"articles/PMC6033076.md","variant_annotation_id":1449576542,"variant_haplotypes":"CYP2C8*1, CYP2C8*4","gene":"CYP2C8","drugs":"montelukast","pmid":28940478,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The allele is associated with increased area under the plasma concentration-time curve (AUC) of montelukast (12.7% increase per copy of each allele, P=0.0184) from the candidate gene study.","sentence":"CYP2C8 *4 is associated with increased concentrations of montelukast in healthy individuals as compared to CYP2C8 *1/*1.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4231027","article_title":"Predictive Value of Interferon-Lambda Gene Polymorphisms for Treatment Response in Chronic Hepatitis C","article_path":"articles/PMC4231027.md","variant_annotation_id":1444665876,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":25393304,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were analyzed by HCV genotype (1,2,3,4). Patients with HCV genotype 1 were divided into groups receiving dual therapy (GT1 (d); peg-intron alpha 2a/b, ribavirn) or triple therapy (GT1 (t); peg-intron alpha 2a/b, ribavirn, telaprevir). Sustained virological response (SVR) is a measure of therapeutic efficacy. Variables that were significant in univariate analysis were included in the multivariate analysis. The authors designated three \"beneficial\" genotypes that were found at higher frequencies in patients who achieved SVR: rs12979860 CC, rs8099917 TT, rs368234815 TT/TT. These genotypes were often found together. 98% of patients with GT1 (d), 100% of patients with GT1(t), 96% of patients with HCV genotype 2, 92% of patients with HCV genotype 3 and 98% of patients with HCV genotype 4 had those genotype combinations.; rs8099917 TT was the strongest predictor of SVR in GT1(t) patients (p=0.026) and was strongly correlated with SVR in patients infected with HCV genotype 4 (P<0.001). In univariate analysis, the TT genotype was a significant predictor of SVR in GT1(d) (p<0.01) and GT1(t) (p=0.02). The TT genotype was found to be significant in a multivariate analysis of predictive factors of SVR within all HCV genotype 1 infected patients. The CC genotype was also associated with higher HCV RNA concentration at baseline in patients with HCV genotype 3 (p=0.005), 2/3 (p=0.017) and GT1(d) (p<0.001) as well as increased ALT levels in HCV genotype 2/3 (p=0.077).","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC11891766","article_title":"Association of NR1I2 Polymorphism with Midazolam Clearance in Mechanically Ventilated ICU Patients: A Population Pharmacokinetic and Pharmacogenetic Study","article_path":"articles/PMC11891766.md","variant_annotation_id":1453068540,"variant_haplotypes":"rs2461817","gene":"NR1I2","drugs":"midazolam","pmid":40066084,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with the rs2461817 mutant homozygous genotype had higher MDZ plasma concentrations compared to those with wild-type homozygous or mutant heterozygous genotypes. In addition, the CL value decreases from 22.6 L/h to 13.4 L/h in these patients (Figure 6).\" Its unclear if \"wild-type\" means reference allele on GRCh38 (which is A) or major allele in the population (likely C), assumed reference allele in this annotation.","sentence":"Genotype CC is associated with increased concentrations of midazolam in people with respiratory failure requiring assisted ventilation as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:respiratory failure requiring assisted ventilation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC10452379","article_title":"Novel Gene Polymorphisms for Stable Warfarin Dose in a Korean Population: Genome-Wide Association Study","article_path":"articles/PMC10452379.md","variant_annotation_id":1452221233,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":37626805,"phenotype_category":"Dosage","significance":"yes","notes":"in univariate analysis of patients on stable dose. \"VKORC1 rs9934438 GG genotype required 9.74 \u00b1 2.18 mg/day, whereas those with AA and AG genotypes needed 5.41 \u00b1 1.84 mg/day\"","sentence":"Genotype GG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC6767327","article_title":"Enantiospecific Pharmacogenomics of Fluvastatin","article_path":"articles/PMC6767327.md","variant_annotation_id":1450823480,"variant_haplotypes":"rs77760615","gene":"CYP2C9","drugs":"fluvastatin","pmid":30989645,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of both 3R,5S-fluvastatin and 3S,5R-fluvastatin and total fluvastatin. The AUC was 82% larger per copy of the variant allele. This variant is in complete LD with CYP2C9*3.","sentence":"Allele G is associated with increased concentrations of fluvastatin in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161481,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"methadone","pmid":21589866,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype or phenotype frequencies between responders and non-responders, as defined by drug misuse during methadone maintenance therapy. No details about which specific variants/alleles were tested for.","sentence":"CYP2C19 *1/*2 + *2/*2 are not associated with response to methadone in people with Opioid-Related Disorders as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449166191,"variant_haplotypes":"rs17300741","gene":"SLC22A11","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of allopurinol in people with Gout as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032054,"variant_haplotypes":"rs7934165","gene":"BDNF","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant after permutation analysis based on 40,000 replicates, or statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP was in LD with rsrs10835210 (r^2>0.7) and not independent. Alleles were reported as T/C, here they are complemented with A representing T and G representing C for the positive chromosomal strand.","sentence":"Genotype AA is associated with increased dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752006,"variant_haplotypes":"rs11853372","gene":"SLC28A1","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotypes GG + GT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613202,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in CYP3A5 nonexpressers and CYP3A5 expressers. The time of measurement for a significant association was 7 days after transplantation for the CYP3A5 expressers and 90 days after transplantation for the CYP3A5 nonexpressers. For CYP3A5 expressers, a significant difference in exposure was not observed at time 30 and 90 days after transplantation. In the CYP3A5 nonexpressers, a significant difference in exposure was seen at 90 days post transplantation but not at day 7 or 30.","sentence":"Genotype CC is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4615534","article_title":"Comparison of Functional Variants in IFNL4 and IFNL3 for Association with Hepatitis C Virus Clearance","article_path":"articles/PMC4615534.md","variant_annotation_id":1445205151,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2a, ribavirin","pmid":26186989,"phenotype_category":"Efficacy","significance":"yes","notes":"in African-American patients. The associations were stronger for IFNL4-rs368234815 than rs4803217 for undetectable HCV RNA at week 24 in Virahep C (p=0.03) and week 20 in HALT-C (p=0.03).","sentence":"Genotypes G/TT + TT/TT are associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotype GG.","alleles":"G/TT + TT/TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10349800","article_title":"Correlation of N-acetyltransferase 2 genotype and acetylation status with plasma isoniazid concentration and its metabolic ratio in ethiopian tuberculosis patients","article_path":"articles/PMC10349800.md","variant_annotation_id":1452191900,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*14, NAT2*16","gene":"NAT2","drugs":"isoniazid","pmid":37454203,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Originally annotated as NAT2 *5/*14 + *5/*5 + *5/*6 + *5/*7 + *6/*14 + *6/*6 + *6/*7 (assigned as slow acetylator phenotype) compared to NAT2 *4/*14 + *4/*5 + *4/*6 + *4/*7 (assigned as intermediate acetylator phenotype). \"There was a significant difference in isoniazid AUC0\u20137 h between acetylator groups. The overall median isoniazid AUC0\u20137 h for slow, intermediate, and fast acetylators was 13.09 \u00b5g.h/mL, 6.09 \u00b5g.h/mL, and 3.73 \u00b5g.h/mL, respectively. The variation of AUC0\u20137 h between the slow genotype group and the other two groups is high (p\u2009<\u20090.001).\" \"The frequency distribution of NAT2*4, *5, *6, *7, and *14 alleles in Ethiopian tuberculosis patients were 14.6%, 47.1%, 31.3%, 5.4%, and 1.7%, respectively. \" Based on the Methods section the alleles are determined the following each SNP: C___1204093_20 for NAT2*5 (c.341 T>C, rs1801280), C___1204091_10 for NAT2*6 (c.590G>A, rs1799930), C____572770_20 for NAT2*7 (c.857G>A, rs1799931), C____572770_20 for NAT2*14 (191G>A, rs1801279). Those are mapped for the annotation to *16, *6, *7, *14 as those are defined by the single SNPs.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles included in this annotation are mapped as following: NAT2*14A under the *14 core allele; NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *16/*14 + *16/*16 + *16/*6 + *16/*7 + *6/*14 + *6/*6 + *6/*7 (assigned as slow acetylator phenotype) is associated with increased concentrations of isoniazid in people with Tuberculosis as compared to NAT2 *4/*14 + *4/*16 + *4/*6 + *4/*7 (assigned as intermediate acetylator phenotype) .","alleles":"*16/*14 + *16/*16 + *16/*6 + *16/*7 + *6/*14 + *6/*6 + *6/*7","specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*4/*14 + *4/*16 + *4/*6 + *4/*7","comparison_metabolizer_types":"intermediate acetylator"} -{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370821,"variant_haplotypes":"rs3093153","gene":"CYP4F2","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"Allele C is not associated with dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3080643","article_title":"Effects of CYP2C9*1/*13 on the pharmacokinetics and pharmacodynamics of meloxicam","article_path":"articles/PMC3080643.md","variant_annotation_id":1451092671,"variant_haplotypes":"CYP2C9*1, CYP2C9*13","gene":"CYP2C9","drugs":"meloxicam","pmid":21395648,"phenotype_category":"PD, Metabolism/PK","significance":"yes","notes":"Individuals with *1/*13 had 2.43- and 1.46-fold higher AUC and Cmax than in the CYP2C9*1/*1 group. The oral clearance of meloxicam is 37.9% of wild type. The CYP2C9*1/*13 genotype is also associated with increased pharmacodynamic effects of meloxicam. Individuals with *1/*13 had greater inhibition of TXB2 generation ( lower rate of TXB(2) production) than in the CYP2C9*1/*1 group.","sentence":"CYP2C9 *1/*13 is associated with decreased metabolism of meloxicam in healthy individuals as compared to CYP2C9 *1/*1.","alleles":"*1/*13","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5651327","article_title":"Pretransplant 4\u03b2\u2010hydroxycholesterol does not predict tacrolimus exposure or dose requirements during the first days after kidney transplantation","article_path":"articles/PMC5651327.md","variant_annotation_id":1448635431,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":28603840,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP3A5 *1A genotype was associated with lower trough tacrolimus concentrations (C0) (beta = (-1.739) (95% CI: (-2.517) \u2013 (-0.962); P <0.001)) and lower C0/dose ratios (beta = (-0.675) (95% CI: (-0.938) \u2013 (-0.412); P <0.001)","sentence":"CYP3A5 *1 is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3.","alleles":"*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3","comparison_metabolizer_types":null} -{"pmcid":"PMC2679107","article_title":"Effects of UGT1A1*28 polymorphism on raloxifene pharmacokinetics and pharmacodynamics","article_path":"articles/PMC2679107.md","variant_annotation_id":1451162800,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"raloxifene 6-glucuronide, raloxifene-4\u2032-glucuronide","pmid":19371317,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"M1 is raloxifene 6-glucuronide, M2 is raloxifene-4-glucuronide.","sentence":"UGT1A1 *28/*28 is associated with increased concentrations of raloxifene 6-glucuronide and raloxifene-4\u2032-glucuronide in women with Osteoporosis as compared to UGT1A1 *1/*1 + *1/*28.","alleles":"*28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Osteoporosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*28","comparison_metabolizer_types":null} -{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":982044357,"variant_haplotypes":"rs2884737","gene":"VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165213,"variant_haplotypes":"rs12943590","gene":"SLC47A2","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to metformin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928798,"variant_haplotypes":"rs1051730","gene":"CHRNA3","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of genotype on likelihood of being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bupropion, nicotine or varenicline in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114040,"variant_haplotypes":"rs204076","gene":"OPRD1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. This is a T/A/G SNP. Based on allele frequencies reported by dbSNP, it has been assumed that the major allele in this study is A and the minor allele is T.","sentence":"Allele T is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002405,"variant_haplotypes":"rs3772810","gene":"UMPS","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. 36 SNPs were initially significantly associated with drug response but only 3 remained significant in the validation cohort (before Bonferroni correction): rs2291078 A, rs3772809 G, rs3772810 G. All three SNPs were in perfect LD, and were initially associated with the non-responder phenotype, but the association did not remain significant after Bonferroni correction.","sentence":"Allele G is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994461,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.","sentence":"Allele A is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4805204","article_title":"Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators","article_path":"articles/PMC4805204.md","variant_annotation_id":1447980773,"variant_haplotypes":"rs77010898","gene":"CFTR","drugs":"curcumin, ivacaftor","pmid":27007499,"phenotype_category":"Efficacy","significance":"yes","notes":"This is a cell based study with measuring channel activity in polarized FRT epithelial monolayers.","sentence":"Genotypes AA + AG are associated with response to curcumin and ivacaftor in people with Cystic Fibrosis as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902880,"variant_haplotypes":"rs4742610","gene":"PTPRD","drugs":"trandolapril, verapamil","pmid":26425837,"phenotype_category":"Efficacy","significance":"yes","notes":"This was associated with resistant hypertension in whites and Hispanics in the international verapamil SR trandolapril study (meta-analysis P=3.2\u00d710-5).","sentence":"Allele T is associated with resistance to trandolapril and verapamil in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6523194","article_title":"Azathioprine Biotransformation in Young Patients with Inflammatory Bowel Disease: Contribution of Glutathione-S Transferase M1 and A1 Variants","article_path":"articles/PMC6523194.md","variant_annotation_id":1451237363,"variant_haplotypes":"rs1142345","gene":"TPMT","drugs":"azathioprine","pmid":30987408,"phenotype_category":"Dosage","significance":"yes","notes":"alleles complemented. No CC (*3C/(3C) homozygotes were reported.","sentence":"Genotype CT is associated with decreased dose of azathioprine in children with Colitis, Ulcerative or Crohn Disease as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Ulcerative Colitis, Other:Crohn Disease","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2194758","article_title":"Ethnic Stratification of the Association of RGS4 Variants with Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC2194758.md","variant_annotation_id":608431246,"variant_haplotypes":"rs2842030","gene":"RGS4","drugs":"olanzapine, perphenazine","pmid":17588543,"phenotype_category":"Efficacy","significance":"not stated","notes":"compared to quetiapine, risperidone or ziprasidone based on Positive and Negative Syndrome Scale (PANSS) positive scores","sentence":"Genotype TT is associated with increased response to olanzapine and perphenazine in people with Schizophrenia as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821470,"variant_haplotypes":"rs208293","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use.","sentence":"Allele A is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310654,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":"This is the defining SNP of CYP2C9*2","sentence":"Allele T is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5427244","article_title":"Donor CYP3A5 genotype influences tacrolimus disposition on the first day after paediatric liver transplantation","article_path":"articles/PMC5427244.md","variant_annotation_id":1448568158,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":28044353,"phenotype_category":"Metabolism/PK","significance":"no","notes":"DONOR liver genotypes. No significant difference in tacrolimus trough concentration or dose-adjusted trough concentration was seen between the genotypes.","sentence":"CYP3A4 *1/*22 + *22/*22 are not associated with metabolism of tacrolimus in children with liver transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22 + *22/*22","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5220536","article_title":"Polymorphisms of the KCNQ1 gene are associated with the therapeutic responses of sulfonylureas in Chinese patients with type 2 diabetes","article_path":"articles/PMC5220536.md","variant_annotation_id":1452876240,"variant_haplotypes":"rs2237892","gene":"KCNQ1","drugs":"gliclazide","pmid":27694910,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Regarding rs2237892, there were more responders among the rare TT allele homozygotes TT; 57.1% of the TT homozygotes responded, compared with only 15.9% of the CC homozygotes. The heterozygote CT group exhibited an intermediate response rate. The odds ratio for the T allele with respect to treatment success was 2.533 (95% CI: 1.283\u20134.999, P=0.007) compared with the rs2237892 C allele. \"","sentence":"Allele T is associated with increased clinical benefit to gliclazide in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105610,"variant_haplotypes":"rs9024","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype GG is associated with increased clearance of doxorubicin in people with Breast Neoplasms as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446895979,"variant_haplotypes":"rs11989215","gene":"ANGPT2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10675244","article_title":"A Physiologically Based Pharmacokinetic Approach to Recommend an Individual Dose of Tacrolimus in Adult Heart Transplant Recipients","article_path":"articles/PMC10675244.md","variant_annotation_id":1452309700,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"tacrolimus","pmid":38004558,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP3A4*18B genotypes were also significant covariates of CL/F. For CYP3A4*18B, there was a significant difference in CL/F of different genotypes: 25.4 \u00b1 12.0 L/h for CYP3A4*18B*18B/*1*18B, and 16.3 \u00b1 10.5 L/h for CYP3A4*1*1 (p < 0.001).\" \"CYP3A4*18B (rs2242480)\"","sentence":"Genotypes CT + TT is associated with increased clearance of tacrolimus in people with heart transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC8724172","article_title":"The effect of potent CYP2D6 inhibition on the pharmacokinetics and safety of deutetrabenazine in healthy volunteers","article_path":"articles/PMC8724172.md","variant_annotation_id":1451505980,"variant_haplotypes":"CYP2D6 intermediate metabolizer genotype","gene":"CYP2D6","drugs":"alpha-dihydrodeutetrabenazine, beta-dihydrodeutetrabenazine","pmid":34491372,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Maximum exposure to \u03b1-HTBZ and \u03b2-HTBZ is slightly higher in IM compared to EM in the absence of paroxetine but comparable between IM and EM in the presence of the inhibitor.","sentence":"CYP2D6 intermediate metabolizer is associated with increased exposure to alpha-dihydrodeutetrabenazine and beta-dihydrodeutetrabenazine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":"and","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450814990,"variant_haplotypes":"rs6688363","gene":"ATP1A2","drugs":"olanzapine","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of T alleles present in a patient was positively associated with CGI-S score.","sentence":"Allele T is associated with decreased response to olanzapine in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4525256","article_title":"Leveraging an Electronic Health Record-Linked Biorepository to Generate a Metformin Pharmacogenomics Hypothesis","article_path":"articles/PMC4525256.md","variant_annotation_id":1446903440,"variant_haplotypes":"rs2076322","gene":null,"drugs":"metformin","pmid":26306225,"phenotype_category":"Efficacy","significance":"no","notes":"EHR-linked and EHR-based phenotyping methods were used to study common variants within FMO5. Efficacy was assessed by A1c levels extracted from EHR records.","sentence":"Allele G is not associated with response to metformin in people with Diabetes Mellitus as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11552228","article_title":"CYP3A4*1B and CYP3A5*3 SNPs significantly impact the response of Egyptian candidates to high-intensity statin therapy to atorvastatin","article_path":"articles/PMC11552228.md","variant_annotation_id":1452706240,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"atorvastatin","pmid":39523378,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by decreased triglycerides. \"The percentage reduction in the serum TG concentration was lower in the CYP3A4*1B (C/C) (wild genotype) group than in the C/T and T/T genotype groups (P value\u2009<\u20090.05). The percentage reduction in serum TG was 4.84\u2009\u00b1\u200924.32 in the CYP3A4*1B (C/C) genotype group (Table 5). Among the CYP3A4*1B (C/T) and (T/T) genotype carriers, the serum TG percentage reductions were 25.51\u2009\u00b1\u20098.35% and 26.70\u2009\u00b1\u200910.17%, respectively (Table 5).\"","sentence":"Genotype CC is associated with decreased response to atorvastatin in people with Cardiovascular Disease or Hyperlipidemias as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease, Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747071,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*20, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *20 is associated with increased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*20","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} -{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679146,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":34910759,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this SNP and odds of continued opioid use or risk of relapse in patients undergoing MMT. Significance threshold was set to p<0.017.","sentence":"Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4594719","article_title":"High metabolic N-oxidation of voriconazole in a patient with refractory aspergillosis and CYP2C19*17/*17 genotype","article_path":"articles/PMC4594719.md","variant_annotation_id":1444930545,"variant_haplotypes":"CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":26138512,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report. A 26-year-old woman with an acute mixed lymphoid and myeloid leukemia met criteria for probable pulmonary aspergillosis and was treated with voriconazole. The patient showed low serum concentrations of the drug, which remained low even after dose increase, and a lack of response. She was found to have the CYP2C19 *17/*17 genotype. Once she was switched to caspofungin, the fungal infection was controlled. The authors note that co-medications and disease-induced modulation of the CYP2C19 and CYP3A4 activities cannot be excluded as explanations for the low concentrations of voriconazole.","sentence":"CYP2C19 *17/*17 is associated with decreased response to voriconazole in women with Mycoses.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715442,"variant_haplotypes":"rs7439366","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Genotype TT is not associated with dose of fentanyl in people with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165203,"variant_haplotypes":"rs2252281","gene":"SLC47A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with exposure to metformin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729358,"variant_haplotypes":"rs4646453","gene":"CYP3A5","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AC is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4814312","article_title":"Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study","article_path":"articles/PMC4814312.md","variant_annotation_id":1447813659,"variant_haplotypes":"rs75222709","gene":null,"drugs":"lithium","pmid":26806518,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients had been taking lithium for at least 6 mo. Response to lithium was assayed using the Alda scale, which quantifies symptom improvement over time. The scale is from 0-10, with 10 being the highest response score and 0 being the lowest. The authors evaluated response using a dichotomous (=7 is \"responder\" and < 7 is \"non-responder\") and a continuous phenotype (0-10). This SNP was found to be associated with improved response to lithium using the continuous phenotype but not the dichotomous phenotype measure. The association was confirmed in an independent prospective study of 73 patients. This is one of four SNPs in LD that show association (rs79663003, rs78015114, rs74795342, rs75222709).","sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703305,"variant_haplotypes":"rs1876831","gene":"CRHR1","drugs":"fluticasone propionate","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The minor allele is reported to be associated with increased response. dbSNP lists T as the minor allele in CEU.","sentence":"Allele T is associated with increased response to fluticasone propionate in people with Asthma as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821800,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"lopinavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes GT + TT are not associated with concentrations of lopinavir in children with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634301,"variant_haplotypes":"rs11763492","gene":"CNTNAP2","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"Significance was not attained. Observations: 2.89 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA, 1.14 mm Hg decreased reduction of systolic blood pressure per A allele in NORDIL, and 1.59 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele A is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188647,"variant_haplotypes":"rs9282564","gene":"ABCB1","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations refers to area under the concentration time curve (0-48hrs)","sentence":"Allele C is associated with increased concentrations of methotrexate in children with as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448493593,"variant_haplotypes":"rs17134592","gene":"AKR1C4","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes.","sentence":"Genotypes CG + GG are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5726942","article_title":"Race/ethnicity difference in the pharmacogenetics of bilirubin-related atazanavir discontinuation","article_path":"articles/PMC5726942.md","variant_annotation_id":1449154881,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"atazanavir","pmid":29117017,"phenotype_category":"Toxicity","significance":"yes","notes":"Association with risk to for bilirubin-related atazanavir discontinuation.","sentence":"Genotype TT is associated with increased discontinuation of atazanavir as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5795999","article_title":"Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population","article_path":"articles/PMC5795999.md","variant_annotation_id":1452362384,"variant_haplotypes":"rs3846662","gene":"HMGCR","drugs":"hmg coa reductase inhibitors","pmid":29295555,"phenotype_category":"Efficacy","significance":"no","notes":"With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.","sentence":"Genotypes GT + TT are not associated with response to hmg coa reductase inhibitors as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4390701","article_title":"Meta-Analysis of the SLCO1B1 c.521T>C Variant Reveals Slight Influence on the Lipid-Lowering Efficacy of Statins","article_path":"articles/PMC4390701.md","variant_annotation_id":1451354800,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":25932441,"phenotype_category":"Efficacy","significance":"not stated","notes":"The lipid-lowering efficacy of simvastatin did show an improvement in patients with the SLCO1B1 c.521T>C wild genotype relative to patients with the variant genotype, with an SMD of -0.26 (95% CI: -0.47- -0.05).","sentence":"Genotypes CC + CT are associated with decreased response to simvastatin as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165143,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele del is not associated with exposure to metformin as compared to allele GAT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934455,"variant_haplotypes":"rs372966991","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Arg112His in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7455128","article_title":"Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action","article_path":"articles/PMC7455128.md","variant_annotation_id":1451356980,"variant_haplotypes":"rs6981827","gene":"CSMD1","drugs":"anastrozole","pmid":32701512,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was measured by the decrease in estrogen levels over the course of treatment.","sentence":"Allele T is associated with decreased response to anastrozole in women with Breast Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2865873","article_title":"Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups","article_path":"articles/PMC2865873.md","variant_annotation_id":637879816,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":20203262,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3055694","article_title":"Genome-Wide Pharmacogenomic Study of Neurocognition As an Indicator of Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC3055694.md","variant_annotation_id":981502104,"variant_haplotypes":"rs286913","gene":"EHF","drugs":"ziprasidone","pmid":21107309,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Adjacent SNPs also showed evidence for association. The report is that the minor allele is associated with greater response, and dbSNP shows A to be the minor allele in all populations reported upon.","sentence":"Allele A is associated with increased response to ziprasidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3048137","article_title":"Association of IL28B gene variations with mathematical modeling of viral kinetics in chronic hepatitis C patients with IFN plus ribavirin therapy","article_path":"articles/PMC3048137.md","variant_annotation_id":981481560,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, ribavirin","pmid":21321200,"phenotype_category":"Efficacy","significance":"yes","notes":"no GG patients were seen. RVR seen in 83.1% TT vs. 57.1% GT.","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotype GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4462564","article_title":"The association of rs1051730 genotype on adherence to and consumption of prescribed nicotine replacement therapy dose during a smoking cessation attempt","article_path":"articles/PMC4462564.md","variant_annotation_id":1450821968,"variant_haplotypes":"rs1051730","gene":"CHRNA3","drugs":"nicotine","pmid":25891233,"phenotype_category":"Dosage","significance":"yes","notes":"Each copy of the minor A allele was associated with a 2.9% decrease in nicotine replacement therapy (NRT) adherence and a 1mg decrease in NRT consumption at 7 days after quit attempt. The association between the A allele and decreased NRT adherence lost significance following adjustment for number of cigarettes smoked. No association between this allele and NRT adherence or consumption was seen at 28 days post quit attempt.","sentence":"Allele A is associated with decreased dose of nicotine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930674,"variant_haplotypes":"rs615470","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680853,"variant_haplotypes":"rs7668258","gene":"UGT2B7","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185012151,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"yes","notes":"All liver recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. Genotype CC is classified as a CYP3A5 non-expresser (*3/*3) and genotypes CT (*1/*3) + TT (*1/*1) are classified as CYP3A5 expressers. The mean tacrolimus C/D of non-expressor donor/ non-expresser recipient pairs was also higher as compared to all other donor/recipient combinations.","sentence":"Genotype CC is associated with increased concentrations of tacrolimus in children with liver transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10537526","article_title":"Evaluation of Pupillometry for CYP2D6 Phenotyping in Children Treated with Tramadol","article_path":"articles/PMC10537526.md","variant_annotation_id":1452263683,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"o-desmethyltramadol","pmid":37765034,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"Regarding secondary outcomes, this study showed a good relationship between the DOR/DEM MR and the M1/tramadol MR. Both MRs showed a satisfactory distribution for each phenotype predicted as a function of genotype\"","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of o-desmethyltramadol in children with Pain as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654401,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - n=20 children had the *1/*2 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and *3 as rs1057910.","sentence":"CYP2C9 *1/*2 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6800829","article_title":"Impact of SLCO1B3 Polymorphisms on Clinical Outcomes in Lung Allograft Recipients Receiving Mycophenolic Acid","article_path":"articles/PMC6800829.md","variant_annotation_id":1451101320,"variant_haplotypes":"rs1042597","gene":"UGT1A8","drugs":"azathioprine, mycophenolic acid","pmid":30992538,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and survival post-transplantation or development of acute cellular rejection, lymphocytic bronchiolitis or chronic lung allograft dysfunction (CLAD).","sentence":"Allele G is not associated with response to azathioprine or mycophenolic acid in people with lung transplantation as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4916778","article_title":"Impact of ATM and SLC22A1 Polymorphisms on Therapeutic Response to Metformin in Iranian Diabetic Patients","article_path":"articles/PMC4916778.md","variant_annotation_id":1448123019,"variant_haplotypes":"rs628031","gene":"SLC22A1","drugs":"metformin","pmid":27386433,"phenotype_category":"Efficacy","significance":"no","notes":"in Iranian patients. Response to metformin was defined by HbA1c and fasting blood sugar (FBS) values.","sentence":"Allele A is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678481,"variant_haplotypes":"rs3812718","gene":"SCN1A","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Efficacy","significance":"no","notes":"The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype CC is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11393095","article_title":"Impact of CYP2D6*2, CYP2D6*35, rs5758550, and related haplotypes on risperidone clearance in vivo","article_path":"articles/PMC11393095.md","variant_annotation_id":1452519083,"variant_haplotypes":"rs5758550","gene":"WBP2NL","drugs":"risperidone","pmid":38963454,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Each evaluated CYP2D6 allele was associated with significantly lower risperidone clearance than the reference; normal function allele CYP2D6*1 (p<0.001). Further, rs5758550 differentiated the effect of CYP2D6*2 (p=0.005). \"","sentence":"Allele A is associated with decreased clearance of risperidone as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682045,"variant_haplotypes":"rs10490924","gene":"ARMS2","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"no","notes":"Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes or central subfield macular thickness (CSMT) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.","sentence":"Allele G is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5509475","article_title":"ABCB1 Genotype is Associated with Fentanyl Requirements in Critically Ill Children","article_path":"articles/PMC5509475.md","variant_annotation_id":1450826585,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fentanyl","pmid":28388599,"phenotype_category":"Dosage","significance":"yes","notes":"Pediatric patients with the AA genotype received less fentanyl in an infusion than patients with the AG or GG genotypes.","sentence":"Genotype AA is associated with decreased dose of fentanyl in children as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC8940650","article_title":"Effect of CYP3A5 and CYP3A4 Genetic Variants on Fentanyl Pharmacokinetics in a Pediatric Population","article_path":"articles/PMC8940650.md","variant_annotation_id":1451678271,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"fentanyl","pmid":34877660,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Allele T is not associated with clearance of fentanyl in children as compared to allele C (assigned as normal metabolizer phenotype) .","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4231027","article_title":"Predictive Value of Interferon-Lambda Gene Polymorphisms for Treatment Response in Chronic Hepatitis C","article_path":"articles/PMC4231027.md","variant_annotation_id":1444665865,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":25393304,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were analyzed by HCV genotype (1,2,3,4). Patients with HCV genotype 1 were divided into groups receiving dual therapy (GT1 (d); peg-intron alpha 2a/b, ribavirn) or triple therapy (GT1 (t); peg-intron alpha 2a/b, ribavirn, telaprevir). Sustained virological response (SVR) is a measure of therapeutic efficacy. Variables that were significant in univariate analysis were included in the multivariate analysis. The authors designated three \"beneficial\" genotypes that were found at higher frequencies in patients who achieved SVR: rs12979860 CC, rs8099917 TT, rs368234815 TT/TT. These genotypes were often found together. 98% of patients with GT1 (d), 100% of patients with GT1(t), 96% of patients with HCV genotype 2, 92% of patients with HCV genotype 3 and 98% of patients with HCV genotype 4 had those genotype combinations.; rs12979860 CC was the only single SNP associated with SVR across all groups. rs12979860 CC was significantly associated with SVR in GT1(d) (p<0.01). 71% of GT1(d) patients had rs12979860 CC and s368234815 TT/TT achieved SVR. In univariate analysis, the CC genotype was a significant predictor of SVR in GT1(d) as well as in patients infected with HCV genotype 2/3 (p=0.03). The CC genotype was found to be significant in a multivariate analysis of predictive factors of SVR within all HCV genotype 1 infected patients. The CC genotype was also associated with higher HCV RNA concentration at baseline in patients with HCV genotype 3 (p<0.001), 2/3 (p<0.001) and GT1(d) (p<0.001) as well as increased ALT levels in HCV genotype 2 (p=0.026) and 2/3 patients (p=0.011).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4243881","article_title":"Effect of UGT1A1, UGT1A3, DIO1 and DIO2 polymorphisms on L-thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer","article_path":"articles/PMC4243881.md","variant_annotation_id":1184990088,"variant_haplotypes":"rs225014","gene":"DIO2","drugs":"levothyroxine","pmid":24910925,"phenotype_category":"Dosage","significance":"no","notes":"This SNP was not associated with dose in univariate regression.","sentence":"Allele C is not associated with dose of levothyroxine in people with Thyroid Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Thyroid tumor","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370763,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"yes","notes":"in Alaska Native and American Indian People. This variant -1639G>A is significantly associated with stable warfarin dose, decreasing the dose required to achieve therapeutic INR by 1.7 mg/day per allele (t-test of coefficients, unadjusted P = 1.4e-05, Bonferroni adjusted P = 7.0e-05). This variant is in complete LD with rs9923231.","sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6923423","article_title":"Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects","article_path":"articles/PMC6923423.md","variant_annotation_id":1451164700,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"rosuvastatin","pmid":31857620,"phenotype_category":"Efficacy","significance":"no","notes":"SLCO1B1 521T\u2009>\u2009C IS partially associated with a higher AUC of rosuvastatin in young subjects and a less pronounced increasing trend in elderly subjects (p > 0.05 for both).","sentence":"Genotypes CC + CT are associated with response to rosuvastatin as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811625,"variant_haplotypes":"rs3789243","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675754,"variant_haplotypes":"rs3204953","gene":"REV3L","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP is not associated with event-free survival (p = 0.998) or overall survival (p = 0.265), as determined by recurrence or death, with mean follow-up time of 143 months.","sentence":"Genotypes CT + TT are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438426,"variant_haplotypes":"rs1800629","gene":"LST1, LTA, TNF","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10038974","article_title":"Prediction of CYP2D6 poor metabolizers by measurements of solanidine and metabolites\u2014a study in 839 patients with known CYP2D6 genotype","article_path":"articles/PMC10038974.md","variant_annotation_id":1452024060,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"solanidine","pmid":36806969,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study \"aimed to compare the predictive value of solanidine and metabolite-to-solanidine ratios of seven solanidine metabolites as biomarkers for CYP2D6 in a large population of psychiatric patients with known CYP2D6 genotype.\"","sentence":"CYP2D6 poor metabolizer is associated with decreased metabolism of solanidine in people with Depression.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550265,"variant_haplotypes":"rs2237628","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11481807","article_title":"Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder","article_path":"articles/PMC11481807.md","variant_annotation_id":1452647500,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"escitalopram","pmid":39407134,"phenotype_category":"Efficacy","significance":"yes","notes":"\"For each S-allele of the 5-HTTLPR variant, a significantly decreased response to escitalopram by 58% was observed in the log-additive model (OR 0.42, 95% CI 0.20\u20130.85, p\u2009=\u20090.015). The association between the 5-HTTLPR genotype and response to escitalopram treatment was not affected by adjustment for the presence of different metabolizers status of CYP2C19 and CYP2D6 (Model 2), the association between the 5-HTTLPR genotype and response to escitalopram treatment remained significant.\"","sentence":"SLC6A4 HTTLPR short form (S allele) is associated with decreased response to escitalopram in people with Major Depressive Disorder as compared to SLC6A4 HTTLPR long form (L allele).","alleles":"HTTLPR short form (S allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR long form (L allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC11508189","article_title":"CYP3A4*1B but Not CYP3A5*3 as Determinant of Long-Term Tacrolimus Dose Requirements in Spanish Solid Organ Transplant Patients","article_path":"articles/PMC11508189.md","variant_annotation_id":1452654220,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"tacrolimus","pmid":39457109,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Significant differences in weight-adjusted dose (p = 0.007) and a trend in Co/dose (p = 0.056) were found between CYP3A4*1B allele carriers and non-carriers. Figure 2 and Figure 3 show plots of weight-adjusted dose and Co/dose for the two groups of CYP3A4 genotypes (rs2740574).\" Transplants included 14 hepatic, 9 renal, 2 cardiac and one pulmonary (from table 1). Alleles complemented.","sentence":"Genotype CT is associated with increased dose of tacrolimus in people with Transplantation as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4854407","article_title":"A Common Susceptibility Gene for Type 2 Diabetes Is Associated with Drug Response to a DPP-4 Inhibitor: Pharmacogenomic Cohort in Okinawa Japan","article_path":"articles/PMC4854407.md","variant_annotation_id":1447987173,"variant_haplotypes":"rs7754840","gene":"CDKAL1","drugs":"Dipeptidyl peptidase 4 (DPP-4) inhibitors","pmid":27139004,"phenotype_category":"Efficacy","significance":"yes","notes":"The SNP was significantly associated with improved response to DPP-4 inhibitors (as assayed by reductions in HbA1c). Most of the patients were on combination anti-diabetic agent (ADA) therapy, but the relationship was only significant for regimens that included DPP-4 (alone or in combination with other ADAs).","sentence":"Allele C is associated with increased response to Dipeptidyl peptidase 4 (DPP-4) inhibitors in people with Diabetes Mellitus as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4413900","article_title":"Pharmacogenomic diversity of tamoxifen metabolites and estrogen receptor genes in Hispanics and non-Hispanic whites with breast cancer","article_path":"articles/PMC4413900.md","variant_annotation_id":1444712484,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"endoxifen","pmid":25395315,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Article compares endoxifen concentrations in Hispanic vs. White. No statistical analysis done for association of CYP2D6 genotype and endoxifen concentration in individual ethnicites. Endoxifen concentrations are given for AS1, AS 0.5 and AS 0. Pre- (23% Hispanic-30% NHW) and postmenopausal (77% Hispanic-65% NHW) ER-positive Breast cancer patients receiving tamoxifen (20 mg daily) for at least 8 weeks with 50% in both cohorts also receive aromatase inhibitor therapy. DNA extracted from blood. *1, *2, *3, *4, *6 were evaluated for CYP2D6. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501817,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was only significant in Caucasian patients and not in African American patients. It was also associated with higher higher carbamazepine-10-11 epoxide: carbamazepine ratio in women (p=0.002).","sentence":"Genotypes AA + AG are associated with increased clearance of carbamazepine in people with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3901533","article_title":"A PHARMACOGENETIC STUDY OF ALDEHYDE OXIDASE I IN PATIENTS TREATED WITH XK469","article_path":"articles/PMC3901533.md","variant_annotation_id":1183699633,"variant_haplotypes":"rs10931910","gene":"AOX1","drugs":"XK469","pmid":24300566,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with decreased clearance of XK469 in people with Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4488893","article_title":"Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption","article_path":"articles/PMC4488893.md","variant_annotation_id":1447984301,"variant_haplotypes":"rs1137115","gene":"CYP2A6","drugs":"nicotine","pmid":26132489,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In the discovery stage: Participants derived from 1) the PKTWIN study and 2) the SMOFAM studyBoth were assessed for nicotine metabolite ratio (NMR) which was used as a biomarker of CYP2A6 activity. Nominally significant SNPs in the discovery stage were tested in the validation stage. Validation stage participants were self-identified White participants from 8 clinical trials of smoking cessation therapies conducted in six US sites.","sentence":"Allele C is not associated with metabolism of nicotine as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11773121","article_title":"Sub\u2010 and supratherapeutic efavirenz plasma concentrations with risk for HIV therapy failure are mainly genetically explained in Ugandan children: The prospective GENEFA cohort study","article_path":"articles/PMC11773121.md","variant_annotation_id":1452639860,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"efavirenz","pmid":39380207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Homozygosity for CYP2B615582C>T predicted lower log EFV,\"","sentence":"Genotype TT is associated with increased concentrations of efavirenz in children with HIV infectious disease as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170887,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"N-desmethyltamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11755583","article_title":"ABCB1 Polymorphism Is Associated with Higher Carbamazepine Clearance in Children","article_path":"articles/PMC11755583.md","variant_annotation_id":1452827241,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"carbamazepine","pmid":39846525,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Alleles complemented. \"Our main finding was that the presence of the ABCB1 1236T-2677T-3435T haplotype was associated with an increased clearance of CBZ in children. \" \"rs2032582 (2677G>T/A)\"","sentence":"Allele A is associated with increased clearance of carbamazepine in children with Epilepsy as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC48077","article_title":"Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquine","article_path":"articles/PMC48077.md","variant_annotation_id":1183629465,"variant_haplotypes":"CYP2D6*2xN","gene":"CYP2D6","drugs":"debrisoquine","pmid":7903454,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Very rapid metabolism of debrisoquine was seen in two families [metabolic ratio (MR) for debrisoquine = 0.01-0.1]. Allele was reported as CYP2D6L with two mutations: one in exon 6 (Arg-296-->Cys) and one in exon 9 (Ser-486-->Thr).","sentence":"CYP2D6 *2xN is associated with increased metabolism of debrisoquine.","alleles":"*2xN","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631748,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele del is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele GAT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT","comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271209,"variant_haplotypes":"CYP2C19 poor metabolizers and intermediate metabolizers","gene":"CYP2C19","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP2C19 *1, *2, *3, *4, *5, *6, *7, *8 and *17 and then assigned metabolizer phenotypes.","sentence":"CYP2C19 poor metabolizers and intermediate metabolizers is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP2C19 normal metabolizer and ultra-metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} -{"pmcid":"PMC4011617","article_title":"PPAR-\u03b32 and PTPRD gene polymorphisms influence type 2 diabetes patients' response to pioglitazone in China","article_path":"articles/PMC4011617.md","variant_annotation_id":1450814898,"variant_haplotypes":"rs1801282","gene":"PPARG","drugs":"pioglitazone","pmid":23147557,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CG genotype showed significantly greater decreases in fasting plasma glucose levels and triglyceride levels after 3 months of pioglitazone treatment. However, changes in other biochemical measures were not significant.","sentence":"Genotype CG is associated with increased response to pioglitazone in people with Diabetes Mellitus, Type 2 as compared to genotype CC.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11608742","article_title":"Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes","article_path":"articles/PMC11608742.md","variant_annotation_id":1452725010,"variant_haplotypes":"rs11212617","gene":"ATM","drugs":"metformin","pmid":39612420,"phenotype_category":"Efficacy","significance":"no","notes":"\"Other SNPs (rs4621031, rs34399035, rs1800058, and rs11212617) had no significant impact on metformin response. \"","sentence":"Allele A is not associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3180021","article_title":"IL28B polymorphisms associated with therapy response in Chilean chronic hepatitis C patients","article_path":"articles/PMC3180021.md","variant_annotation_id":1444705804,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, ribavirin","pmid":21987611,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715511,"variant_haplotypes":"rs4587017","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Efficacy","significance":"no","notes":"There was a significant difference in PPLpost-PPLpre between the genotype groups.","sentence":"Genotype TT is associated with decreased response to fentanyl in people with Pain, Postoperative as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680053,"variant_haplotypes":"rs77977790","gene":"PAPPA2","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. This association was significant in the initial GWAS (in GALA II), but it was not significant in an attempted replication by imputation in silico in GALA I. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype CT is associated with increased response to salbutamol in children with Asthma as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5945500","article_title":"Correlation of MDR1 gene polymorphism with propofol combined with remifentanil anesthesia in pediatric tonsillectomy","article_path":"articles/PMC5945500.md","variant_annotation_id":1449311625,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"propofol, remifentanil","pmid":29755652,"phenotype_category":"Efficacy","significance":"no","notes":"Referred to as 2677 G>T/A Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to propofol and remifentanil in children as compared to allele A.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995772,"variant_haplotypes":"rs2515462","gene":"ANGPT2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032649,"variant_haplotypes":"rs558025","gene":"OPRM1","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant after permutation analysis based on 40,000 replicates, and not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this SNP is in LD with rs660756 (r^2>0.7).","sentence":"Genotypes AG + GG are associated with decreased dose of methadone in people with Heroin Dependence as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC7649675","article_title":"Pharmacogenetics of TNF inhibitor\u00a0response in rheumatoid arthritis utilizing the two-component disease activity score","article_path":"articles/PMC7649675.md","variant_annotation_id":1451293840,"variant_haplotypes":"rs1350948","gene":null,"drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":33124499,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in 2C-DAS28. Table 2 shows change was a negative value for this variant suggesting decreased 2C-DAS28 and increased response, it was not attributed to a particular allele at this rs number location so assumed minor allele based on dbSNP frequencies.","sentence":"Allele A is associated with increased response to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3786328","article_title":"Artemisinin-resistant Plasmodium falciparum in Pursat province, western Cambodia: a parasite clearance rate study","article_path":"articles/PMC3786328.md","variant_annotation_id":1183705675,"variant_haplotypes":"rs1050828","gene":"G6PD","drugs":"artemisinin and derivatives","pmid":22940027,"phenotype_category":"Efficacy","significance":"no","notes":"G6PD deficient (those with genotype TT, TC, or T in males) compared to non-deficient (genotype CC or C in males). No difference in efficacy of parasite clearance was observed. Patients were treated with artemether-lumefantrine or artesunate and mefloquine.","sentence":"Allele T is not associated with response to artemisinin and derivatives in people with Malaria, Falciparum as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Malaria, Falciparum","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4240933","article_title":"Effect of NOS3 gene polymorphism on response to Tricyclic antidepressants in migraine attacks","article_path":"articles/PMC4240933.md","variant_annotation_id":1452571103,"variant_haplotypes":"rs1799983","gene":"NOS3","drugs":"nortriptyline","pmid":25422735,"phenotype_category":"Efficacy","significance":"yes","notes":"SNP referred to as Glu298Asp in the paper and mapped to rs1799983 by PharmGKB. The TT genotype was significantly associated with a reduced frequency of migraine attacks in patients using tricyclic antidepressants","sentence":"Genotype TT is associated with increased response to nortriptyline in people with Migraine without Aura or Migraine with Aura as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura, Other:Migraine with Aura","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4947669","article_title":"A novel treatment of cystic fibrosis acting on-target: cysteamine plus epigallocatechin gallate for the autophagy-dependent rescue of class II-mutated CFTR","article_path":"articles/PMC4947669.md","variant_annotation_id":1447964109,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"cysteamine","pmid":27035618,"phenotype_category":"Efficacy","significance":"yes","notes":"Improvement measured as change in CFTR function by changes in chloride concentration. Patients with class II mutations benefit from cysteamine, whereas patients carrying 2 class I mutations do not. Schedule of treatment was cysteamine alone for 8 weeks, followed by cysteamine plus EGCG for 4 weeks, then EGCG alone for 8 weeks. Subjects continued other therapy throughout.","sentence":"Genotypes CTT/del + del/del are associated with increased response to cysteamine in people with Cystic Fibrosis as compared to genotype CTT/CTT.","alleles":"CTT/del + del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CTT/CTT","comparison_metabolizer_types":null} -{"pmcid":"PMC6523194","article_title":"Azathioprine Biotransformation in Young Patients with Inflammatory Bowel Disease: Contribution of Glutathione-S Transferase M1 and A1 Variants","article_path":"articles/PMC6523194.md","variant_annotation_id":1451237374,"variant_haplotypes":"GSTM1 non-null, GSTM1 null","gene":"GSTM1","drugs":"azathioprine","pmid":30987408,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"GSTM1 null is associated with decreased clinical benefit to azathioprine in children with Colitis, Ulcerative or Crohn Disease as compared to GSTM1 non-null.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Ulcerative Colitis, Other:Crohn Disease","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"non-null","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755972,"variant_haplotypes":"rs1869641","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7375060","article_title":"The association of COMT genotype with buproprion treatment response in the treatment of major depressive disorder","article_path":"articles/PMC7375060.md","variant_annotation_id":1451270680,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"bupropion","pmid":32459054,"phenotype_category":"Efficacy","significance":"yes","notes":"Relationship is reported as beneficial for Met/Val or Val/Val compared to Met/Met. The rs number is listed but not which base corresponds to the protein change: Met = rs4680A and Val = rs4680G.","sentence":"Genotypes AG + GG is associated with increased response to bupropion in people with Depressive Disorder, Major as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5700347","article_title":"Observational Study of Associations between Voriconazole Therapeutic Drug Monitoring, Toxicity, and Outcome in Liver Transplant Patients","article_path":"articles/PMC5700347.md","variant_annotation_id":1449146940,"variant_haplotypes":"CYP2C19 ultrarapid metabolizer","gene":"CYP2C19","drugs":"voriconazole","pmid":28923870,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Poor metabolizers = PMs (n=7); Intermediate metabolizers = IMs (n=24); Extensive metabolizers = EMs (n=30); Ultrarapid metabolizers = UMs (n=14). Patients were liver transplant recipients with known or suspected invasive fungal infections.","sentence":"CYP2C19 ultrarapid metabolizer is associated with decreased trough concentration of voriconazole in people with Mycoses as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376626,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238748,"variant_haplotypes":"rs9713","gene":"PSMD14","drugs":"risperidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to risperidone in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3376437","article_title":"Influence of SLCO1B3 haplotype-tag SNPs on docetaxel disposition in Chinese nasopharyngeal cancer patients","article_path":"articles/PMC3376437.md","variant_annotation_id":827784609,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"docetaxel","pmid":21995462,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"Significance as part of a haplotype with rs4149118, rs11045585 and rs3834935.","sentence":"Allele A is associated with decreased clearance of docetaxel in people with Nasopharyngeal Neoplasms.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703591,"variant_haplotypes":"rs7387065","gene":"CSMD1","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele A is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11509751","article_title":"Bleeding Events Associated with Rivaroxaban Therapy in Naive Patients with Nonvalvular Atrial Fibrillation: A Longitudinal Study from a Genetic Perspective with INR Follow-Up","article_path":"articles/PMC11509751.md","variant_annotation_id":1452654321,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"rivaroxaban","pmid":39459499,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In our results, the heterozygous and homozygous mutated groups of CYP3A5*3 displayed lower plasma concentrations than the individuals having wild-type genotypes, as shown in Table 1.\"","sentence":"Genotype TT is associated with increased steady-state concentration of rivaroxaban in people with Atrial Fibrillation as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4270923","article_title":"G Protein-Coupled Receptor Kinase 5 Gene Polymorphisms Are Associated with Postoperative Atrial Fibrillation Following Coronary Artery Bypass Graft Surgery in Patients Receiving Beta-Blockers","article_path":"articles/PMC4270923.md","variant_annotation_id":1451843550,"variant_haplotypes":"rs16947","gene":"CYP2D6","drugs":"Beta Blocking Agents","pmid":25049040,"phenotype_category":"Efficacy","significance":"no","notes":"Single-nucleotide polymorphisms in 10 candidate genes were tested for association with atrial fibrillation after coronary artery bypass grafting despite perioperative beta blocker therapy.","sentence":"Allele A is not associated with response to Beta Blocking Agents in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6960206","article_title":"Nephrotoxicity in a Patient With Inadequate Pain Control: Potential Role of Pharmacogenetic Testing for Cytochrome P450 2D6 and Apolipoprotein L1","article_path":"articles/PMC6960206.md","variant_annotation_id":1451141840,"variant_haplotypes":"CYP2D6*5, CYP2D6*17","gene":"CYP2D6","drugs":"hydromorphone","pmid":31969823,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report of a patient taking hydromorphone for back pain with no detectable hydromorphone concentrations in urine screen.","sentence":"CYP2D6 *5/*17 is associated with decreased concentrations of hydromorphone in women.","alleles":"*5/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715538,"variant_haplotypes":"rs4235108","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele A is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557927,"variant_haplotypes":"rs2372536","gene":"ATIC","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":"The allele was initially significant did not remain significant after multiple-testing corrections.","sentence":"Allele G is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5903228","article_title":"The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool","article_path":"articles/PMC5903228.md","variant_annotation_id":1449166180,"variant_haplotypes":"rs1183201","gene":"SLC17A1","drugs":"allopurinol","pmid":29341237,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of allopurinol in people with Gout as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757013,"variant_haplotypes":"rs9332127","gene":"CYP2C9","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171405,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is not associated with concentrations of tacrolimus in children with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3686783","article_title":"Genetic Variants of Pregnane X Receptor (PXR) and CYP2B6 Affect the Induction of Bupropion Hydroxylation by Sodium Ferulate","article_path":"articles/PMC3686783.md","variant_annotation_id":1450820343,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":23840296,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects carrying the CYP2B6*6 allele had significantly increased AUCs if bupropion compared to *1/*1 subjects.","sentence":"CYP2B6 *1/*6 + *6/*6 are associated with decreased metabolism of bupropion in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*1/*6 + *6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449155997,"variant_haplotypes":"rs55853698","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.","sentence":"Allele G is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6262886","article_title":"Targeted Sequencing Identifies Missense variant in the BEST3 gene associated with Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC6262886.md","variant_annotation_id":1449733611,"variant_haplotypes":"rs61747221","gene":"BEST3","drugs":"hydrochlorothiazide","pmid":30289819,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AG is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7710914","article_title":"Effects of Mu-Opiate Receptor Gene Polymorphism rs1799971 (A118G) on the Antidepressant and Dissociation Responses in Esketamine Nasal Spray Clinical Trials","article_path":"articles/PMC7710914.md","variant_annotation_id":1451147820,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ketamine","pmid":32367114,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in changes in MADRS scores on days 2 or 28 of treatment with ketamine and an oral antidepressant compared to treatment with a placebo and an oral antidepressant.","sentence":"Allele G is not associated with response to ketamine in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5142600","article_title":"Peginterferon Alfa-2a/Ribavirin treatment efficacy in chronic hepatitis C patients is related to natural killer group 2D gene rs1049174 GC polymorphism","article_path":"articles/PMC5142600.md","variant_annotation_id":1448532419,"variant_haplotypes":"rs1049174","gene":"KLRK1","drugs":"peginterferon alfa-2b, ribavirin","pmid":28004016,"phenotype_category":"Efficacy","significance":"yes","notes":"in CHC patients with genotype 1a and 1b.","sentence":"Genotype GG is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114866,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and AUC0-12 of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as G2677T.","sentence":"Allele A is not associated with exposure to lopinavir or ritonavir in children with HIV Infections as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4304713","article_title":"Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses","article_path":"articles/PMC4304713.md","variant_annotation_id":1444694050,"variant_haplotypes":"rs2835859","gene":"KCNJ6","drugs":"fentanyl","pmid":25615449,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.","sentence":"Genotype TT is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Side Effect:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC7347085","article_title":"Factors influencing pharmacokinetics of warfarin in African\u2013Americans: implications for pharmacogenetic dosing algorithms","article_path":"articles/PMC7347085.md","variant_annotation_id":1444695840,"variant_haplotypes":"CYP2C9*1, CYP2C9*8","gene":"CYP2C9","drugs":"warfarin","pmid":25712185,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in African Americans. Patients with CYP2C9*8 had a 30% reduction in S-warfarin clearance as compared to patients with *1/*1 genotype. CYP2C9*8, but not; CYP2C9*2/*3, and body surface area (BSA)/body weight were determinants of; S-warfarin clearance (CL[S]) in African\u2013American. Dosing algorithm that excludes African-specific variant(s) may lead to prediction errors in African Americans.","sentence":"CYP2C9 *1/*8 + *8/*8 are associated with decreased clearance of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*8 + *8/*8","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6493375","article_title":"ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients","article_path":"articles/PMC6493375.md","variant_annotation_id":827921753,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"antiepileptics","pmid":22630058,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was also part of haplotype associated with response/resistance.","sentence":"Genotypes CT + TT are associated with increased resistance to antiepileptics in people with Epilepsy as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4697903","article_title":"NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia","article_path":"articles/PMC4697903.md","variant_annotation_id":1447682392,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"mercaptopurine","pmid":26405151,"phenotype_category":"Dosage","significance":"yes","notes":"Children with the CT or TT genotypes received 80.3%, 61.5% and 61.1% of the median cumulative dose of those with the CC genotype at 2, 4 and 6 months of the mercaptopurine maintenance phase, respectively. Additionally, patients with the CT or TT genotype were given a median dose of 28 mg/m2/day, 56% of the standard initial dose.","sentence":"Genotypes CT + TT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407521,"variant_haplotypes":"rs4633","gene":"COMT","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele T is not associated with response to morphine in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2492917","article_title":"Lack of tacrolimus circadian pharmacokinetics and CYP3A5 pharmacogenetics in the early and maintenance stages in Japanese renal transplant recipients","article_path":"articles/PMC2492917.md","variant_annotation_id":1183954989,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":18429967,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose-adjusted AUC0-12 and dose-adjusted trough levels of tacrolimus were decreased in patients with the *1/*1 (TT) or *1/*3 (CT) genotypes (\"expressers\") as compared to those with the *3/*3 (CC) genotype (\"non-expressers\"), both in the early (day 28) and maintenance (beyond 1 year) stages. Additionally, body weight-adjusted oral clearance was higher and dose-adjusted Cmax was lower in those with the *1/*1 and *1/*3 genotype as compared to those with the *3/*3 genotype; this was only significant during the early stage after transplant. No significant results were seen for AUC0-12.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC9819208","article_title":"Impact of ABCC2 1249G>A and \u221224C>T Polymorphisms on Lacosamide Efficacy and Plasma Concentrations in Uygur Pediatric Patients With Epilepsy in China","article_path":"articles/PMC9819208.md","variant_annotation_id":1451921160,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"lacosamide","pmid":36253887,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype GG is associated with increased concentrations of lacosamide in children with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC2858245","article_title":"Integration of genetic, clinical, and INR data to refine warfarin dosing","article_path":"articles/PMC2858245.md","variant_annotation_id":1183700748,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":20375999,"phenotype_category":"Dosage","significance":"yes","notes":"Each CYP2C9*3 allele resulted in a 28% (23-32%) decrease in therapeutic dose on Day 4 or 5 of therapy.","sentence":"CYP2C9 *3 is associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983276,"variant_haplotypes":"rs2532560","gene":"PARP11","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (G). Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele G is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5377478","article_title":"A prospective study to assess the association between genotype, phenotype and Prakriti in individuals on phenytoin monotherapy","article_path":"articles/PMC5377478.md","variant_annotation_id":1448612922,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"phenytoin","pmid":28302415,"phenotype_category":"Toxicity","significance":"yes","notes":"Concentrations in *1/*3 were 3x more likely to have toxic concentrations of phenytoin compared to *1/*1.","sentence":"CYP2C9 *1/*3 is associated with increased concentrations of phenytoin in people with Epilepsy as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864560,"variant_haplotypes":"rs7412","gene":"APOC1, APOE","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin in people with haplotype epsilon2.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:haplotype epsilon2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11208962","article_title":"A Nanopore Sequencing-based Pharmacogenomic Panel to Personalize Tuberculosis Drug Dosing","article_path":"articles/PMC11208962.md","variant_annotation_id":1452459580,"variant_haplotypes":"NAT2 intermediate acetylator","gene":"NAT2","drugs":"isoniazid","pmid":38647526,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Isoniazid clearance was 2.2 times higher among intermediate acetylators and 3.8 times higher among rapid acetylators compared with slow acetylators (p<0.0001)\" Variants measured from Table 2: rs1801279 (191G>A), rs1041983 (282C>T), rs1801280 (341T>C), rs1799929 (481C>T), rs1799930 (590G>A), rs1208 (803A>G), rs1799931 (857G>A).","sentence":"NAT2 intermediate acetylator and rapid acetylator is associated with increased clearance of isoniazid in people with Tuberculosis as compared to NAT2 slow acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate acetylator and rapid acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"slow acetylator"} -{"pmcid":"PMC4542662","article_title":"Combined Effect of CYP2B6 and NAT2 Genotype on Plasma Efavirenz Exposure During Rifampin-based Antituberculosis Therapy in the STRIDE Study","article_path":"articles/PMC4542662.md","variant_annotation_id":1452644040,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"efavirenz","pmid":25722197,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Genotype for metabolizer status determined from rs1801279, rs1801280, rs1799930, and rs1799931. Patients were taking both efavirenz and antituberculosis therapy. \"In participants with CYP2B6 extensive and intermediate metabolizer genotypes, only small differences between efavirenz Cmin concentrations on antituberculosis therapy and off antituberculosis therapy were seen for all NAT2 metabolizer genotypes. In contrast, among the 4 participants with both CYP2B6 and NAT2 slow metabolizer genotypes, efavirenz Cmin concentrations were substantially elevated on antituberculosis therapy compared to off antituberculosis therapy, with differences exceeding 8 \u00b5g/mL in 3 of these 4 participants; this was not statistically significant in this subset. One individual with slow CYP2B6 and intermediate NAT2 metabolizer genotypes had a considerably larger efavirenz Cmin concentration on vs off antituberculosis treatment.\"","sentence":"NAT2 slow acetylator is associated with increased concentrations of efavirenz in people with HIV infectious disease and Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} -{"pmcid":"PMC6786370","article_title":"Influences of an NR1I2 polymorphism on heterogeneous antiplatelet reactivity responses to clopidogrel and clinical outcomes in acute ischemic stroke patients","article_path":"articles/PMC6786370.md","variant_annotation_id":1450127378,"variant_haplotypes":"rs2487032","gene":null,"drugs":"clopidogrel","pmid":30487649,"phenotype_category":"Efficacy","significance":"yes","notes":"This variant is associated with decreased Cmax, decreased AUC of clopidogrel, decreased H4 concentration, and decreased antiplatelet effects of clopidogrel with a higher PRU.","sentence":"Allele A is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703756,"variant_haplotypes":"rs77876672","gene":"DIAPH3","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele C is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5391994","article_title":"Impact of the CYP2C19 Genotype on Voriconazole Exposure in Adults with Invasive Fungal Infections","article_path":"articles/PMC5391994.md","variant_annotation_id":1448604948,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":28306618,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The study did not find a significant difference in trough concentration between the NM (*1/*1) (4.27 \u00b1 2.4 mg/l) and the IM/PM (*1/*2 + *2/*17 + *2/*2) (4.13 \u00b1 1.6 mg/l) groups, therefore these groups were combined for comparison. The mean steady-state trough concentrations were 1.35\u00b10.7, 2.97\u00b12.3, and 4.26 \u00b1 2.2 mg/l in patients with the CYP2C19 *17/*17 (UMs), *1/*17 (RMs), and other genotypes, respectively (P=0.02 for both the *17/*17 and *1/*17 genotypes compared with other genotypes. More subjects with the RM/UM phenotype had a subtherapeutic trough concentration (52 vs. 16%, P = 0.0028).","sentence":"CYP2C19 *17/*17 is associated with decreased concentrations of voriconazole in people with Mycoses as compared to CYP2C19 *1/*1 + *1/*2 + *2/*17 + *2/*2.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *2/*17 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC6851426","article_title":"Pharmacogenomics and Placebo Response in a Randomized Clinical Trial in Asthma","article_path":"articles/PMC6851426.md","variant_annotation_id":1451123460,"variant_haplotypes":"rs2392165","gene":null,"drugs":"budesonide","pmid":31557306,"phenotype_category":"Efficacy","significance":"yes","notes":"The AG and GG genotypes were associated with a greater improvement in coughing and wheezing compared to the AA genotype. Note that this SNP did not reach genome-wide significance in the GWAS.","sentence":"Genotypes AG + GG are associated with increased response to budesonide in children with Asthma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567673,"variant_haplotypes":"rs2189784","gene":"CYP4F2","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased dose of warfarin in people with heart valve replacement as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6587626","article_title":"MMP-2 and MMP-9 gene polymorphisms act as biological indicators for ulinastatin efficacy in patients with severe acute pancreatitis","article_path":"articles/PMC6587626.md","variant_annotation_id":1451144600,"variant_haplotypes":"rs3918242","gene":"MMP9","drugs":"ulinastatin","pmid":31192912,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with increased response to ulinastatin in people with Pancreatitis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pancreatitis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436786,"variant_haplotypes":"rs4673993","gene":"ATIC","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678879,"variant_haplotypes":"rs9380142","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). The GG genotype was associated with decreased DFS and OS.","sentence":"Genotype GG is associated with decreased response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3860742","article_title":"RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients","article_path":"articles/PMC3860742.md","variant_annotation_id":1183700211,"variant_haplotypes":"rs1265138","gene":"RRM2B","drugs":"cladribine, cytarabine","pmid":24024897,"phenotype_category":"Efficacy","significance":"yes","notes":"More patients with a complete response after the first induction therapy were seen in the AA genotype group. No multiple testing adjustments were performed: 7 SNPs were investigated.","sentence":"Genotype AA is associated with increased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4618180","article_title":"Response to treatment following recently acquired hepatitis C virus infection in a multi-centre collaborative cohort","article_path":"articles/PMC4618180.md","variant_annotation_id":1444843627,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26098993,"phenotype_category":"Efficacy","significance":"yes","notes":"in HCV genotype 1 infected patients. The association was not significant in HCV genotype 2/3 infected patients.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680176,"variant_haplotypes":"rs295114","gene":"SPATS2L","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was imputed rather than genotyped. This was assessed as a replication attempt for a previously reported association of a different SPATS2L SNP with response to bronchodilators. Bonferroni correction was performed according to the number of SNPs included that are within 50 kb up and downstream of SPATS2L.","sentence":"Allele C is not associated with response to salbutamol in children with Asthma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003673,"variant_haplotypes":"rs41303343","gene":"CYP3A5, ZSCAN25","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144286,"variant_haplotypes":"rs79403677","gene":"FAM177A1","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1887589","article_title":"A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity","article_path":"articles/PMC1887589.md","variant_annotation_id":1452801106,"variant_haplotypes":"rs2784917","gene":"SLIT1","drugs":"etoposide","pmid":17537913,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Specifically, rs10061997, rs12190776, rs2784917, and rs9730073 were all significant predictors of etoposide IC50. The overall estimate of R2 = 0.40, indicates 40% of the etoposide IC50 variation can be explained by these 4 SNPs in the YRI.\"","sentence":"Genotype AA is associated with decreased inhibition of etoposide as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"inhibition of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2794921","article_title":"A Genome-Wide Association Study of Citalopram Response in Major Depressive Disorder","article_path":"articles/PMC2794921.md","variant_annotation_id":981502454,"variant_haplotypes":"rs6127921","gene":null,"drugs":"citalopram","pmid":19846067,"phenotype_category":"Efficacy","significance":"no","notes":"It was also associated with remission. Neither association was significant after correction (430,198 SNPs tested). Authors point out the lack of placebo control.","sentence":"Allele C is associated with decreased response to citalopram in people with Depressive Disorder, Major as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2896457","article_title":"Dopamine D2 receptor genetic variation and clinical response to antipsychotic drug treatment: A meta-analysis","article_path":"articles/PMC2896457.md","variant_annotation_id":769168983,"variant_haplotypes":"rs1799732","gene":"DRD2","drugs":"antipsychotics","pmid":20194480,"phenotype_category":"Efficacy","significance":"yes","notes":"in a meta-analysis.","sentence":"Allele del is associated with decreased response to antipsychotics in people with Schizophrenia as compared to genotype GG.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5355968","article_title":"A Study on CYP2C19 and CYP2D6 Polymorphic Effects on Pharmacokinetics and Pharmacodynamics of Amitriptyline in Healthy Koreans","article_path":"articles/PMC5355968.md","variant_annotation_id":1448615842,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"amitriptyline","pmid":28296334,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C19 *2/*2 + *2/*3 + *3/*3 is associated with increased exposure to amitriptyline in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438094,"variant_haplotypes":"rs4816969","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5E-9. This variant was in strong linkage disequilibrium with rs9305223 and rs2226443.","sentence":"Allele G is not associated with clearance of tenofovir in people with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934437,"variant_haplotypes":"rs104894827","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the A allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Arg356Trp in the paper.","sentence":"Allele A is associated with increased response to migalastat in people with Fabry Disease.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715544,"variant_haplotypes":"rs11931604","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC12043259","article_title":"Pharmacogenetics of plasma dolutegravir exposure during 1-month rifapentine/isoniazid treatment of latent tuberculosis","article_path":"articles/PMC12043259.md","variant_annotation_id":1452856120,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"dolutegravir","pmid":39960813,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"At day 0 (before starting rifapentine/isoniazid), UGT1A1; rs887829 was associated with dolutegravir Ctrough.; Compared with rs887829 CC normal metabolizers, day; 0 Ctrough was higher in CT intermediate metabolizers; (GMR = 1.51; 90% CI: 1.10\u20132.07), and in TT poor metabolizers (GMR = 1.90; 90% CI: 1.09\u20133.28). At day 28 (with; rifapentine/isoniazid), UGT1A1 rs887829 was still associated with dolutegravir Ctrough, although the GMR values were somewhat less than at day 0. Compared with; rs887829 CC normal metabolizers, day 28 Ctrough was higher; in CT intermediate metabolizers (GMR = 1.38; 90% CI:; 1.02\u20131.86), and in TT poor metabolizers (GMR = 1.65;; 90% CI: 0.97\u20132.78). Relationships between UGT1A1 genotype and dolutegravir Ctrough are shown in Fig. 1a.\"","sentence":"Genotypes CT + TT is associated with increased dose-adjusted trough concentrations of dolutegravir in people with HIV infectious disease and Tuberculosis as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930647,"variant_haplotypes":"rs588765","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"The T allele was initially associated with an increased likelihood of being a smoker but this lost significance following correction for multiple testing.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5564514","article_title":"Pharmacokinetics of Metoprolol During Pregnancy and Lactation","article_path":"articles/PMC5564514.md","variant_annotation_id":1447676621,"variant_haplotypes":"CYP2D6 normal metabolizers","gene":"CYP2D6","drugs":"metoprolol","pmid":26461463,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Mean apparent oral clearance was higher in CYP2D6 EM (one functional allele (*1, *35) in combination with another functional allele or one functional allele in combination with a reduced function allele (*9, *10, *17, *41) or two reduced function alleles) as compared to CYP2D6 IM (one non-functional allele (*3, *4, *5, *6) in combination with a functional allele or a non-functional allele in combination with a reduced function allele) at 22-26 weeks of pregnancy and between 34-38 weeks of pregnancy, but not in early pregnancy or > 3 months postpartum.","sentence":"CYP2D6 normal metabolizer is associated with increased clearance of metoprolol in women with Pregnancy as compared to CYP2D6 intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer"} -{"pmcid":"PMC4155516","article_title":"Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes","article_path":"articles/PMC4155516.md","variant_annotation_id":1184748535,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":25084200,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Diplotype was determined as *2A/*2A. Significantly higher trough concentrations (adjusted for daily dose) was observed in the one patient with the *2A/*2A diplotype. CYP2C19*17 was defined as rs12248560 c.-806C>T, *2A as rs4244285 c.681G>A, *2B as rs4244285 and rs17878459 c.276G>C, and *1 as none of these variants.","sentence":"CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased dose-adjusted trough concentrations of voriconazole in children with Neoplasms as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*2/*2","specialty_population":"Pediatric","metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175537,"variant_haplotypes":"rs868853","gene":"ABCC4","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"no","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele C is not associated with clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436746,"variant_haplotypes":"rs7412","gene":"APOC1, APOE","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5859345","article_title":"Evaluation of CYP2C9- and VKORC1-based pharmacogenetic algorithm for warfarin dose in Gaza-Palestine","article_path":"articles/PMC5859345.md","variant_annotation_id":1449262882,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":29568565,"phenotype_category":"Dosage","significance":"no","notes":"Although in the first analysis, the T allele was not found to be associated with warfarin dose in this population, the polymorphism was included in the International Warfarin Pharmacogenetic Consortium (IWPC), which was compared to a traditional clinical algorithm and the IWPC algorithm predicted dose better than the clinical algorithm.","sentence":"Allele T is associated with dose of warfarin in people with Cardiovascular Diseases as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4628029","article_title":"CYP3A5 and ABCB1 genotype influence tacrolimus and sirolimus pharmacokinetics in renal transplant recipients","article_path":"articles/PMC4628029.md","variant_annotation_id":1447520795,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"sirolimus, tacrolimus","pmid":26543771,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP3A5 *3/*3 is associated with increased dose-adjusted trough concentrations of sirolimus or tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238803,"variant_haplotypes":"rs9585618","gene":"NALCN","drugs":"ziprasidone","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele C is associated with response to ziprasidone in people with Schizophrenia.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6128165","article_title":"Testing genetic modifiers of behavior and response to atomoxetine in autism spectrum disorder with ADHD","article_path":"articles/PMC6128165.md","variant_annotation_id":1449718447,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"atomoxetine","pmid":30197492,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association of CYP2D6 metabolizer phenotype with ADHD symptom response or compliance response. Metabolizer status was assigned based on CPIC guidelines and the presence of the *2, *3, *4, *6, *9 *10. *17 or *41 alleles or the variants rs5758550 or rs1080985.","sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with response to atomoxetine in people with Attention Deficit Disorder with Hyperactivity as compared to CYP2D6 normal metabolizer and ultra-metabolizer genotypes.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} -{"pmcid":"PMC4527535","article_title":"Multigene predictors of tacrolimus exposure in kidney transplant recipients","article_path":"articles/PMC4527535.md","variant_annotation_id":1444934259,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":26067485,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In a multivariable model adjusting for CYP3A5*1 status and clinical factors, one or two POR*28 alleles (rs1057868 CT + TT) were associated with a 4.63% reduction in trough concentrations. In a more detailed analysis, in a subset of CYP3A5 nonexpressors (*3/*3; n=997), patients with one or two POR*28 alleles had dose-adjusted trough concentrations reduced by 5.6% after adjustment for clinical factors (p=0.03). However, in a subset of CYP3A5 expressors (*1/*1 or *1/*3; n=432), with adjustment for clinical factors, the POR*28 alleles were NOT associated with trough concentrations (p=0.68). n=35,043 tacrolimus trough concentrations were available for analysis.","sentence":"Genotypes CT + TT is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648709,"variant_haplotypes":"rs72552763","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs34059508 and rs34130495. There was a non-significant trend for patients carrying reduced function alleles to have increased exposure to morphine, but the change in exposure is not large enough to be of clinical importance.","sentence":"Allele del is not associated with exposure to morphine in people with Pain, Postoperative as compared to allele GAT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GAT","comparison_metabolizer_types":null} -{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693810,"variant_haplotypes":"rs361525","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"yes","notes":"When in a haplotype with rs1800629 and rs1799724. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Those homozygous for the GGC (rs361525-rs1800629-rs1799724) haplotype had a significantly lower ACR50 response rate as compared to subjects with any other diplotype (see paper for diplotypes present in population). This effect was more important in a subgroup of patients receiving concomitant methotrexate.","sentence":"Genotype GG is associated with decreased response to adalimumab in people with Arthritis, Rheumatoid.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3959225","article_title":"Pharmacogenomics of insulin-like growth factor-I generation during GH treatment in children with GH deficiency or Turner syndrome","article_path":"articles/PMC3959225.md","variant_annotation_id":1449164464,"variant_haplotypes":"rs2069502","gene":"CDK4","drugs":"somatropin recombinant","pmid":23567489,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to growth hormone treatment assessed by 1-month insulin-like growth factor-I (IGF-I) generation. Multiple test correction was done for 1182 SNPs. Corrected p values was given.","sentence":"Genotype CC is associated with decreased response to somatropin recombinant in children with Turner Syndrome as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Turner Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566611,"variant_haplotypes":"rs1154461","gene":"ADH7","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this is the only snp that survived Bonferroni correction for multiple hypotheses (<0.00049). It was only significant for blood early metabolism, and the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755959,"variant_haplotypes":"rs1883306","gene":"POU2F2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele A is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":655386935,"variant_haplotypes":"rs7793837","gene":"CRHR2","drugs":"salbutamol, selective beta-2-adrenoreceptor agonists","pmid":18408560,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased response to salbutamol and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to allele A.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6361127","article_title":"Effects of UGT1A1 Genotype on the Pharmacokinetics, Pharmacodynamics, and Toxicities of Belinostat Administered by 48-Hour Continuous Infusion in Patients With Cancer","article_path":"articles/PMC6361127.md","variant_annotation_id":1447672753,"variant_haplotypes":"UGT1A1*1, UGT1A1*60","gene":"UGT1A1","drugs":"belinostat","pmid":26313268,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The dose-normalized area under the plasma concentration-time curve (AUC) was increased in carriers of the *60 alleles (*1/*60 n=7; *60/*60 n=4) in those who received a belinostat dose greater than 400 mg/m2/24h. Significant results were also seen when considering *28 and *60 alleles combined. Patients received belinostat in combination with cisplatin and etoposide. p < 0.01 was considered statistically significant.","sentence":"UGT1A1 *1/*60 + *60/*60 is associated with increased concentrations of Belinostat in people with Neoplasms.","alleles":"*1/*60 + *60/*60","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954058,"variant_haplotypes":"rs2304672","gene":"PER2","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5727754","article_title":"Effect of AGTR1 and BDKRB2 gene polymorphisms on atorvastatin metabolism in a Mexican population","article_path":"articles/PMC5727754.md","variant_annotation_id":1449169583,"variant_haplotypes":"rs1799722","gene":"BDKRB2","drugs":"atorvastatin","pmid":29250329,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AUC (0-time t) and AUC (0-infinity) values were significantly higher in the CT genotype (180.66\u00b178.48 and 194.17\u00b177.38 ng/ml/h, respectively) vs the TT + CC genotypes combined (145.22\u00b191.08 and 159.54\u00b192.80 ng/ml/h, respectively) (P<0.05). Clearance was significantly lower in the CT genotype (469.55\u00b1168.36 l/h) vs TT+CC (643.68\u00b1304.85 l/h) (P<0.05 & adjusted R2=0.093, P=0.01). Genotype was not associated with half-life, Cmax, or elimination rate constant of atorvastatin.","sentence":"Genotype CT is associated with increased exposure to atorvastatin in healthy individuals as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4560372","article_title":"Association between CXCL10 and DPP4 Gene Polymorphisms and a Complementary Role for Unfavorable IL28B Genotype in Prediction of Treatment Response in Thai Patients with Chronic Hepatitis C Virus Infection","article_path":"articles/PMC4560372.md","variant_annotation_id":1446904209,"variant_haplotypes":"rs13015258","gene":"DPP4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b","pmid":26339796,"phenotype_category":"Efficacy","significance":"no","notes":"PEG-interferon alfa (2a and b) was co-adminstered with ribavirin. Response was assessed by sustained virological response (SVR) percent by genotype. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype GG is not associated with response to peginterferon alfa-2a or peginterferon alfa-2b in people with Hepatitis C, Chronic as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2000718","article_title":"Effect of ABCB1 (MDR1) haplotypes derived from G2677T/C3435T on the pharmacokinetics of amlodipine in healthy subjects","article_path":"articles/PMC2000718.md","variant_annotation_id":982043511,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"amlodipine","pmid":16869811,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When analyzed in combination with genotypes from rs2032582. The haplotypes were: 2677CC/3435GG, 2677AC/3435AG, 2677AA/3435AA, where rs2032582 = position 2677 and rs1045642 = position 3435.; Individuals with the 2677CC/3435GG haplotype had increased area under the time-concentration curve from 0 to 144 hours (AUC0-144) and from 0 to infinity (AUC0-infinity) and decreased oral clearance (CL/F) as compared to haplotypes 2677AA/3435AA + 2677AC/3435AG, and increased peak plasma concentration (Cmax) as compared to haplotype 2677AA/3435AA ONLY. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is associated with decreased clearance of amlodipine in healthy individuals as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681671,"variant_haplotypes":"rs13250975","gene":"NRG1","drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In high severity schizophrenia patient subgroup","sentence":"Allele G is associated with increased response to antipsychotics in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2884029","article_title":"The role of organic anion-transporting polypeptides and their common genetic variants in mycophenolic acid pharmacokinetics","article_path":"articles/PMC2884029.md","variant_annotation_id":981477575,"variant_haplotypes":"rs4149117","gene":"SLCO1B3","drugs":"mycophenolate mofetil","pmid":19890249,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This finding is for patients also treated with cyclosporine.","sentence":"Allele G is not associated with clearance of mycophenolate mofetil in people with Kidney Transplantation as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038119,"variant_haplotypes":"rs2727784","gene":"APOA1","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144201,"variant_haplotypes":"rs6942227","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557921,"variant_haplotypes":"rs16853834","gene":"ATIC","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4890827","article_title":"A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration","article_path":"articles/PMC4890827.md","variant_annotation_id":1446907775,"variant_haplotypes":"rs2804495","gene":"NRP1","drugs":"ranibizumab","pmid":26426212,"phenotype_category":"Efficacy","significance":"no","notes":"Response was measured as change in visual acuity after 3 months of treatment in patients who received three monthly ranibizumab injections.","sentence":"Allele G is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3348126","article_title":"Pharmacogenetics Meets Metabolomics: Discovery of Tryptophan as a New Endogenous OCT2 Substrate Related to Metformin Disposition","article_path":"articles/PMC3348126.md","variant_annotation_id":982046569,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"l-tryptophan","pmid":22590580,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A gene dose effect was observed in that clearance of tryptophan decreased in the following manner: CC>AC>AA.","sentence":"Genotype CC is associated with increased clearance of l-tryptophan as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC4557249","article_title":"Association of serotonin transporter (SLC6A4) & receptor (5HTR1A, 5HTR2A) polymorphisms with response to treatment with escitalopram in patients with major depressive disorder: A preliminary study","article_path":"articles/PMC4557249.md","variant_annotation_id":1452040181,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"escitalopram","pmid":26261165,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to escitalopram Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995971,"variant_haplotypes":"rs2233945","gene":"PSORS1C1","drugs":"etanercept","pmid":28107378,"phenotype_category":"Efficacy","significance":"yes","notes":"The degree of response was determined by EULAR score.; A significant association between rs2233945 and response to etanercept was seen at six months after beginning treatment. No significant association was seen at two years after beginning treatment.; No significant associations were seen at either time point when response was measured as number of patients in remission or with low disease activity.","sentence":"Allele C is associated with decreased response to etanercept in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356763,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11652804","article_title":"Sex\u2010Dependent Effects of CYP2D6 on the Pharmacokinetics of Berberine in Humans","article_path":"articles/PMC11652804.md","variant_annotation_id":1452699064,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"berberine","pmid":39488825,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The effects of CYP2D6 on berberine pharmacokinetics were only observed in females and not in males (Figure 5c). Females who were poor CYP2D6 metabolizers showed 79% lower M1-to-berberine ratios compared with females with reference genotype (P = 2.3 \u00d7 10 \u22124 , Welch\u2019s t-test on log 2 values). In contrast, no genotype-dependent difference was observed in males.\" \"Poor CYP2D6 metabolizers were defined as homozygous or compound heterozygous carriers of CYP2D6 alleles *3, *4, *5 or *6. In the reference group, we included carriers of two fully active alleles of OCT1 (OCT1*1) and CYP2D6(CYP2D6*1, *2, and *35) without duplication\"","sentence":"CYP2D6 poor metabolizer is associated with decreased metabolism of berberine in women as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5006145","article_title":"Impact of CYP2C9, VKORC1 and CYP4F2 genetic polymorphisms on maintenance warfarin dosage in Han-Chinese patients: A systematic review and meta-analysis","article_path":"articles/PMC5006145.md","variant_annotation_id":1449259246,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":27617219,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10099095","article_title":"Estimating the In Vivo Function of CYP2D6 Alleles through Population Pharmacokinetic Modeling of Brexpiprazole","article_path":"articles/PMC10099095.md","variant_annotation_id":1452037200,"variant_haplotypes":"CYP2D6*1, CYP2D6*2","gene":"CYP2D6","drugs":"brexpiprazole","pmid":36350097,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients and healthy individuals from clinical studies. \"CYP2D6*2 allele (n = 183); was associated with only 10% enzyme activity relative to the wild-type allele (CYP2D6*1)\"","sentence":"CYP2D6 *2 is associated with decreased metabolism of brexpiprazole as compared to CYP2D6 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3248259","article_title":"Pharmacokinetics and pharmacodynamics following maintenance doses of prasugrel and clopidogrel in Chinese carriers of CYP2C19 variants","article_path":"articles/PMC3248259.md","variant_annotation_id":1450664729,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"prasugrel","pmid":21689142,"phenotype_category":"Efficacy","significance":"no","notes":"Response to prasugrel treatment was unaffected by CYP2C19 genetic variation based on IPA to 20 mM ADP as measured by LTA, the VN P2Y12 assay and VASP phosphorylation.","sentence":"CYP2C19 *2/*2 + *2/*3 are not associated with response to prasugrel in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634268,"variant_haplotypes":"rs6083538","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There was a trend in results but significance was not attained. Association with systolic BP reduction was closest to being significant. Observations: 2.91 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA, 0.41mm Hg increased reduction of systolic blood pressure per T allele in NORDIL, and 2.34 mm Hg increased reduction of systolic blood pressure per T allele in PEAR + GERA + NORDIL.","sentence":"Allele T is associated with increased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3947488","article_title":"Factors Associated with Variability in Rifampin Plasma Pharmacokinetics and the Relationship between Rifampin Concentrations and Induction of Efavirenz Clearance","article_path":"articles/PMC3947488.md","variant_annotation_id":1183704865,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"rifampin","pmid":24420746,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Higher Cmax concentrations of rifampin were observed in individuals with the GG genotype.","sentence":"Genotype GG is associated with decreased clearance of rifampin in healthy individuals as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450984320,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"atazanavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"subjects with zero CGC copies had faster atazanavir CL/F and lower Cmin compared with individuals with one or two CGC copies\"(complemented to plus chromosomal strand). In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 1-7 (atazanavir alone). By the end of day 7 oral clearance of atazanavir was 0.25, 0.18, 0.17 L/h/kg in people with 0, 1 or 2 copies of the haplotype, respectively. Cmin was 66, 159 and 209 ng/mL in people with 0,1 or 2 copies, respectively.","sentence":"Genotype AA is associated with increased clearance of atazanavir in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11852071","article_title":"Pharmacogenetics and Pharmacokinetics of Moxifloxacin in MDR-TB Patients in Indonesia: Analysis for ABCB1 and SLCO1B1","article_path":"articles/PMC11852071.md","variant_annotation_id":1452864440,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"moxifloxacin","pmid":40001447,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented. \"This study found no association between genotype variations in ABCB1 and SLCO1B1 and the AUC0\u201324 and Cmax of moxifloxacin.\" The majority of patients were CC (n=38) or AC (n=34) with AA (n=4), AT (n=2) and CT (n=2). There was wide variety of AUCs.","sentence":"Genotype AC is not associated with increased exposure to moxifloxacin in people with Drug Resistance and Tuberculosis as compared to genotype CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Drug Resistance, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157264,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436919,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele G is not associated with clearance of tenofovir in people with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9961245","article_title":"Pharmacokinetics of Tamoxifen and Its Major Metabolites and the Effect of the African Ancestry Specific CYP2D6*17 Variant on the Formation of the Active Metabolite, Endoxifen","article_path":"articles/PMC9961245.md","variant_annotation_id":1452032700,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*17","gene":"CYP2D6","drugs":"endoxifen","pmid":36836506,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Authors looked at CYP2D6*1/*1, *1/*2 or *2/*2 v CYP2D6*1/*17 or *2/*17 v CYP2D6*17/*17. Volunteers were mostly men (n=39, women n=3), received 20mg tamoxifen.","sentence":"CYP2D6 *17 is associated with increased exposure to endoxifen in healthy individuals as compared to CYP2D6 *1 + *2.","alleles":"*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *2","comparison_metabolizer_types":null} -{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448494366,"variant_haplotypes":"rs1043657","gene":"AKR7A2","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563880,"variant_haplotypes":"CYP2C9 intermediate metabolizer","gene":"CYP2C9","drugs":"valproic acid","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Compared with the respective normal metabolizers, we observed increased valproate plasma concentrations in CYP2C9 intermediate metabolizers (12% [95% CI, 4%-20%]), CYP2C19 intermediate metabolizers (12% [95% CI, 2%-24%]) and CYP2C19 poor metabolizers (20% [95% CI, 2%-41%]) (Table 3).\" Decreased activity: CYP2C9*2: rs1799853; Abolished activity: CYP2C9*3: rs1057910","sentence":"CYP2C9 intermediate metabolizer is associated with increased concentrations of valproic acid as compared to CYP2C9 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827787027,"variant_haplotypes":"rs1046428","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the slowest clearance and the highest urinary excretion of unmetabolized C(13)-DCA was observed for a subject homozygous for G for rs7975,G for rs7972, T for rs1046428.","sentence":"Allele T is associated with decreased clearance of dichloroacetic acid in children Mitochondrial Diseases.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":"Disease:Mitochondrial Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767325,"variant_haplotypes":"rs3008634","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2662935","article_title":"\u03b2-Adrenergic Receptor Polymorphisms and Response to Salmeterol","article_path":"articles/PMC2662935.md","variant_annotation_id":699639135,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"salmeterol","pmid":16322642,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased response to salmeterol in people with Asthma as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002489,"variant_haplotypes":"rs17160359","gene":"ABCB1","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"not stated","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. Five SNPs (rs2289310 G>T; rs1047840 G>A; rs17431184 T>C; rs17160359 G>T; rs2236722 A>G) were identified as distinguishing the \"non-responder\" phenotype from the \"responder\" phenotype when using a logistic regression multivariate model. The AUC for the receiver operating characteristic curve of the 5 SNPs is 0.875. This logistic-based multivariate model is said to be able to identify 39.1% of non-responders.","sentence":"Allele T is associated with increased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672824,"variant_haplotypes":"rs761666827","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is not associated with metabolism of nicotine as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675704,"variant_haplotypes":"rs3087403","gene":"REV1","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"yes","notes":"Presence of at least one T allele is associated with reduced event-free survival (p = 0.004) and overall survival (p < 0.001), with followup until recurrence or death, with a mean follow-up of 143 months.","sentence":"Genotypes CT + TT are associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4868001","article_title":"Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy","article_path":"articles/PMC4868001.md","variant_annotation_id":1449565846,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"phenytoin","pmid":27179628,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 *1/*2 is not associated with concentrations of phenytoin in children with as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4023787","article_title":"CYP2B6 18492T\u2192C Polymorphism Compromises Efavirenz Concentration in Coinfected HIV and Tuberculosis Patients Carrying CYP2B6 Haplotype *1/*1","article_path":"articles/PMC4023787.md","variant_annotation_id":1184467298,"variant_haplotypes":"rs2279345","gene":"CYP2B6","drugs":"efavirenz","pmid":24492364,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significantly lower efavirenz plasma levels were observed in patients with the CC genotype compared to TT at 12 weeks of antiretroval treatment (during anti-TB treatment which included rifampin), and at 24 weeks (after rifampin discontinuation). Significantly lower efavirenz plasma levels were observed in patients with the CT genotype compared to TT only at 24 weeks (after rifampin discontinuation). All patients had the CYP2B6*1/*1 haplotype (as determined by 7 SNPs) before being assessed by this SNP. Please note; this SNP was described as 18492T>C (and previous studies by this group provided the rsID). Multivariate analysis of efavirenz plasma levels at weeks 12 and 24 of treatment showed that this SNP significantly contributed with the C allele was associated with decreased efavirenz plasma concentrations (P at 12 week=0.004 and p at 24 week = 0.007).","sentence":"Genotypes CC + CT are associated with increased metabolism of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373211,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to methadone in people with Heroin Dependence as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4613195","article_title":"Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation","article_path":"articles/PMC4613195.md","variant_annotation_id":1448099974,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"mycophenolic acid","pmid":26307985,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations measured as trough blood drug concentrations. Differences in concentrations were seen 3 months after transplant.","sentence":"Genotype CT is associated with decreased concentrations of mycophenolic acid in people with lung transplantation as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767392,"variant_haplotypes":"rs17011686","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680733,"variant_haplotypes":"rs35303484","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype AA is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5395152","article_title":"The magnitude of ivacaftor effects on fluid secretion via R117H-CFTR channels: Human in vivo measurements","article_path":"articles/PMC5395152.md","variant_annotation_id":1449192603,"variant_haplotypes":"rs78655421","gene":"CFTR","drugs":"ivacaftor","pmid":28419121,"phenotype_category":"Efficacy","significance":"yes","notes":"R117H allele. Assessment of C-sweat in three cystic fibrosis patients. A R117H-7T/F508del patient and a R117H-7T/R117H-7T patient both showed increased C-sweat production when treated with ivacaftor. However, a R117H-5T/F508del patient did not have a C-sweat response to ivacaftor.","sentence":"Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183698989,"variant_haplotypes":"rs546120","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165218,"variant_haplotypes":"rs784888","gene":"SP1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with exposure to metformin as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2014233","article_title":"Functional significance of a C\u2192A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine","article_path":"articles/PMC2014233.md","variant_annotation_id":769247726,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"caffeine","pmid":10233211,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"this was significant in smokers but not non-smokers.","sentence":"Genotype AA is associated with increased metabolism of caffeine as compared to genotype AC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171094,"variant_haplotypes":"rs3211371","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of (S)-EDDP as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510528,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002).","sentence":"Genotype CC is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotypes CG + GG.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4965653","article_title":"Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases","article_path":"articles/PMC4965653.md","variant_annotation_id":1450376719,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":27482244,"phenotype_category":"Efficacy","significance":"no","notes":"Patients underwent the same naturalistic assessment procedure to evaluate the treatment response, which included the reapplication of the CPRS, CTRS, CGI-S, GAS, CPT and TMT A and B. Treatment responders were defined as follows: patients registering 2 points or greater improvement on the CGI-S and a total GAS score of 60 points or greater (out of 108 subjects 66.6% responded to the treatment, while 33.3% did not). No association for distribution of genotypes according to treatment response. However, multiple logistic regression analysis to examine the relationship between various clinical parameters and treatment response showed that ADRA2A GG genotype (OR=5.6), the presence of a psychiatric comorbidity (OR=5.6) and low SES (OR=2.3) were associated with reduced response to methylphenidate treatment.","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928777,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"no","notes":"No significant effect of genotype on likelihood of male subjects being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation.","sentence":"Allele A is not associated with response to bupropion, nicotine or varenicline in men with Tobacco Use Disorder as compared to genotype GG.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11158323","article_title":"CYP2A6 and the plasma level of 5\u2010chloro\u20102, 4\u2010dihydroxypyridine are determinants of the pharmacokinetic variability of tegafur and 5\u2010fluorouracil, respectively, in Japanese patients with cancer given S\u20101","article_path":"articles/PMC11158323.md","variant_annotation_id":827700554,"variant_haplotypes":"CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9","gene":"CYP2A6","drugs":"tegafur","pmid":18380793,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Oral clearance. Please note; the alleles were described in the study as *9 and *4, and here is represented as *9 and *4. Also, the 3' UTR conversion of the *7 allele was not mentioned in the study.","sentence":"CYP2A6 *4/*9 + *7/*9 + *9/*9 are not associated with decreased clearance of tegafur in people with Neoplasms as compared to CYP2A6 *1/*1.","alleles":"*4/*9 + *7/*9 + *9/*9","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3735354","article_title":"CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3735354.md","variant_annotation_id":1183698967,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"methadone","pmid":21790905,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the AA or AG genotype required an increased mean daily methadone dose (mg/day) as compared to those with the GG genotype. Please note that this SNP was found to be in strong LD (D' = 1 and r2 = 0.9) with rs3745274 in this sample population.","sentence":"Genotypes AA + AG are associated with increased dose of methadone in people with Heroin Dependence as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550259,"variant_haplotypes":"rs12705169","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele G is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7303159","article_title":"Identification of a novel polymorphism associated with reduced clozapine concentration in schizophrenia patients\u2014a genome-wide association study adjusting for smoking habits","article_path":"articles/PMC7303159.md","variant_annotation_id":1451356100,"variant_haplotypes":"rs28379954","gene":"NFIB","drugs":"clozapine","pmid":32555152,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"GWAS analysis was conducted after adjusting for smoking habits of study participants.","sentence":"Genotype CT is associated with decreased concentrations of clozapine in people with Schizophrenia as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":827864558,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":21228733,"phenotype_category":null,"significance":"no","notes":"A significant association between genotype and dose was not found in this study; however, the trend for this association \"was consistent with the literature\".","sentence":"Allele C is not associated with decreased dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175529,"variant_haplotypes":"rs9516519","gene":"ABCC4","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"no","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele G is not associated with clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6612264","article_title":"Efficacy and safety of lumacaftor/ivacaftor combination therapy in patients with cystic fibrosis homozygous for Phe508del CFTR by pulmonary function subgroup","article_path":"articles/PMC6612264.md","variant_annotation_id":1448107229,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor / lumacaftor","pmid":27298017,"phenotype_category":"Efficacy","significance":"yes","notes":"This was a pooled analysis, stratifying patients by specific categories of lung function, including severe lung dysfunction with ppFEV less than 40. Some patients experienced respiratory adverse events upon initiation of therapy but these usually resolved with continued therapy. Patients were randomized to receive either 600 mg lumacaftor with 250 mg ivacaftor every 12 hours, or 400 mg lumacaftor with 250 mg ivacaftor every 12 hours, or placebo.","sentence":"Genotype del/del is associated with increased response to ivacaftor / lumacaftor in people with Cystic Fibrosis as compared to genotypes CTT/CTT + CTT/del.","alleles":"del/del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CTT/CTT + CTT/del","comparison_metabolizer_types":null} -{"pmcid":"PMC10452379","article_title":"Novel Gene Polymorphisms for Stable Warfarin Dose in a Korean Population: Genome-Wide Association Study","article_path":"articles/PMC10452379.md","variant_annotation_id":1452221239,"variant_haplotypes":"rs4386623","gene":"FRAS1","drugs":"warfarin","pmid":37626805,"phenotype_category":"Dosage","significance":"yes","notes":"in univariate analysis of patients on stable dose. \"FRAS1 rs4386623 A allele carriers necessitated significantly higher warfarin doses compared to non-carriers\"","sentence":"Genotypes AA + AG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2042718","article_title":"A novel mutant variant of the CYP2D6 gene (CYP2D6 17) common in a black African population: association with diminished debrisoquine hydroxylase activity","article_path":"articles/PMC2042718.md","variant_annotation_id":1447990816,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*17","gene":"CYP2D6","drugs":"debrisoquine","pmid":8971426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"MR of was higher for *1/*17 (n=23) mean value 1.45. Mean MR values *1/*1(n=12) =0.56 and *1/*2 (n=13)=0.59.","sentence":"CYP2D6 *1/*17 is associated with decreased metabolism of debrisoquine in healthy individuals as compared to CYP2D6 *1/*1 + *1/*2.","alleles":"*1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC3787223","article_title":"A Markov Chain Model to Evaluate the Effect of CYP3A5 and ABCB1 Polymorphisms on Adverse Events Associated with Tacrolimus in Pediatric Renal Transplantation","article_path":"articles/PMC3787223.md","variant_annotation_id":1184514654,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":23990505,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who were CYP3A5 nonexpressors (CYP3A5 *3/*3; CC) had increased dose-normalized by body weight concentration of tacrolimus as compared to those who were expressors (CYP3A5 *1/*1 or *1/*3; TT or CT).","sentence":"CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3100585","article_title":"Induction of CYP3A4 by Vinblastine: Role of the Nuclear Receptor NR1I2","article_path":"articles/PMC3100585.md","variant_annotation_id":827811113,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"midazolam","pmid":20959500,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"It's not clear exactly what genotype comparison was done or what the genotypes were, but there was approximately one CT subject and 5 TT subjects. Frequency entered in Study Parameter section is based on that number. Subjects were treated with vinblastine/valspodar. [stat_test: nonparametric 2-sided Wilcoxon signed-rank]","sentence":"Allele C is not associated with increased clearance of midazolam in people with Carcinoma, Renal Cell as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5599305","article_title":"Nicotine Dependence is Associated with Functional Variation in FMO3, an Enzyme that Metabolizes Nicotine in the Brain","article_path":"articles/PMC5599305.md","variant_annotation_id":1449157859,"variant_haplotypes":"rs2266780","gene":"FMO3","drugs":"nicotine","pmid":28290528,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Individuals with the AA genotype have a greater percent of both deuterated nicotine and non-deuterated nicotine metabolized to nicotine-N-oxide as compared to the AG or GG genotype.","sentence":"Genotype AA is associated with increased metabolism of nicotine as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4432150","article_title":"Influence of ABCC2 and ABCC4 Polymorphisms on Tenofovir Plasma Concentrations in Thai HIV-Infected Patients","article_path":"articles/PMC4432150.md","variant_annotation_id":1444703303,"variant_haplotypes":"rs1751034","gene":"ABCC4","drugs":"tenofovir","pmid":25801567,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CC + CT is not associated with concentrations of tenofovir in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4892373","article_title":"Association of a single nucleotide polymorphism near the interleukin-28B gene with response to hepatitis C therapy in HIV/hepatitis C virus-coinfected patients","article_path":"articles/PMC4892373.md","variant_annotation_id":981501391,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":20389235,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients received peginterferon alpha-2A or 2B, along with ribavirin. This effect was found in HCV genotypes 1 and 4 but not 3. These patients were coinfected with HIV. The association was with SVR. 75% of CC vs 38% of CT and TT achieved SVR. Note: the frequency of CC in patients with spontaneous HCV clearance was significantly higher than in chronically HIV/HCV coinfected patients.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407492,"variant_haplotypes":"rs16918875","gene":"OPRK1","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele A is not associated with response to morphine in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680825,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles given as A and G.","sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557898,"variant_haplotypes":"rs17602729","gene":"AMPD1","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3978988","article_title":"Lack of association between plasma levels of non-nucleoside reverse transcriptase inhibitors & virological outcomes during rifampicin co-administration in HIV-infected TB patients","article_path":"articles/PMC3978988.md","variant_annotation_id":1448993465,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":24521642,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CYP2B6 516 G>T polymorphism was found to be significantly associated with virological outcomes in patients receiving EFV-based regimen; patients belonging to GG/GT genotype were more likely to have an unfavourable outcome (P=0.022).\"","sentence":"Genotype TT is associated with increased response to efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC11666798","article_title":"Influence of CYP2C8*3 and ABCG2 C421A genetic polymorphisms on trough concentration and molecular response of imatinib in Egyptian patients with chronic myeloid leukemia","article_path":"articles/PMC11666798.md","variant_annotation_id":1452798922,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"imatinib","pmid":39714624,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. There were no TT homozygotes. \"However, a statistically significant difference was noted between the two patient groups regarding the distribution of different genotypes of the ABCG2 C421A polymorphism with predominance of the CA genotype in responder patients (p\u2009=\u20090.0395) (Fig. 2b).; Assessment of molecular response to imatinib based on the BCR-ABL1 transcript level at 12 months. Responders (n\u2009=\u200926); Non-responders (n\u2009=\u200924). \"","sentence":"Genotype GT is associated with increased clinical benefit to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5519037","article_title":"Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer","article_path":"articles/PMC5519037.md","variant_annotation_id":1448636654,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"everolimus","pmid":28727815,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: alleles have been complemented to the positive chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11855146","article_title":"Genetic Variants of SLC22A1 rs628031 and rs622342 and Glycemic Control in T2DM Patients from Northern Mexico","article_path":"articles/PMC11855146.md","variant_annotation_id":1452867580,"variant_haplotypes":"rs622342","gene":"SLC22A1","drugs":"metformin","pmid":40004467,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Carriers of at least one minor allele of A-rs628031 and C-rs622342 had lower HbA1c values than individuals homozygous for the major allele in both genes.\"","sentence":"Genotypes AC + CC is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109670,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele C is associated with dose of warfarin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3729209","article_title":"CYP2B6 and bupropion\u2019s smoking cessation pharmacology: the role of hydroxybupropion","article_path":"articles/PMC3729209.md","variant_annotation_id":1445403174,"variant_haplotypes":"CYP2B6*1, CYP2B6*4, CYP2B6*5, CYP2B6*6, CYP2B6*18, CYP2B6*22","gene":"CYP2B6","drugs":"bupropion","pmid":23149928,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Light smokers. Individuals with two copies of a reduced function allele (*6, *18) were grouped into the \"slow metabolizer\" group. The genotypes within this group were *6/*6 (n=22), *6/*18 (n=8), *6/*6 + *1/*22 (compound heterozygote; n=1). Individuals with *1/*1 (n=48), *1/*4 (n=1), *1/*5 (n=4), *1/*22 (n=4), and *22/*22 (n=1) genotype were considered normal metabolizers. Slow metabolizers had decreased hydroxybupropion levels and hydroxybupropion/bupropion ratios as compared to normal metabolizers. No significant result was seen when considering bupropion levels (p=0.297).","sentence":"CYP2B6 *6/*6 + *6/*18 is associated with decreased metabolism of bupropion in people with Tobacco Use Disorder as compared to CYP2B6 *1/*1 + *1/*4 + *1/*5 + *1/*22 + *22/*22.","alleles":"*6/*6 + *6/*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*4 + *1/*5 + *1/*22 + *22/*22","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680038,"variant_haplotypes":"rs8191725","gene":"IGF2R","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. This association was significant in the initial GWAS (in GALA II), but it was not significant in an attempted replication by imputation in silico in GALA I. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype AG is associated with increased response to salbutamol in children with Asthma as compared to genotype AA.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3749570","article_title":"VEGF-A polymorphisms predict progression-free survival among advanced castration-resistant prostate cancer patients treated with metronomic cyclophosphamide","article_path":"articles/PMC3749570.md","variant_annotation_id":1183699164,"variant_haplotypes":"rs2010963","gene":"VEGFA","drugs":"cyclophosphamide","pmid":23860526,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference genotype frequencies were seen between patients who were responders to chemotherapy, and those who were non-responders. Patients with advanced prostate cancer undergoing metronomic chemotherapy. Responders were classified as patients who had a decrease in prostrate-specific antigen (PSA) of >= 50% and a PSA stabilization of >= 6 months. Patients also received celecoxib and dexamethasone, and some patients received docetaxel-, mitoxantrone-, and vinorelbine-based chemotherapeutic regimens.","sentence":"Genotype CC is not associated with response to cyclophosphamide in people with Prostatic Neoplasms as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757043,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele C is not associated with dose of warfarin in people with heart valve replacement as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811650,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and any individual item or total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele G is not associated with response to ethanol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375583,"variant_haplotypes":"rs4148155","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele G is associated with decreased response to allopurinol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3419350","article_title":"CYP2C19 polymorphism affects single-dose pharmacokinetics of oral pantoprazole in healthy volunteers","article_path":"articles/PMC3419350.md","variant_annotation_id":1447947333,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"pantoprazole","pmid":22418828,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There were 2 *2/*2 and 6 *1/*1.","sentence":"CYP2C19 *2/*2 is associated with decreased clearance of pantoprazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2683977","article_title":"Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin","article_path":"articles/PMC2683977.md","variant_annotation_id":827602050,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":18305455,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9*2 is associated with a 19% decrement in the warfarin dose per; allele.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183631267,"variant_haplotypes":"rs2273359","gene":"NELFCD","drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"There is potential for strand confusion with a CG SNP, and it is not clear with respect to the positive chromosomal strand which allele is associated with better response. The article text states that no GG were observed, but table 2 lists C as the low frequency allele. The association did not reach genome-wide significance when only PEAR + GERA were analyzed, but this SNP was selected for replication in NORDIL, where the association also did not reach significance. This association approached genome-wide significance in the meta-analysis of PEAR + GERA + NORDIL. Observations: 8.21 mm Hg decrease in reduction of systolic blood pressure per C allele in PEAR + GERA, 7.79 mm Hg decrease in reduction in systolic blood pressure per C allele in NORDIL and 8.15 mm Hg decrease in reduction of systolic blood pressure per C allele in PEAR + GERA + NORDIL.","sentence":"Genotype CG is associated with increased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to genotype CC.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472424,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"yes","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4631186","article_title":"The FNTB promoter polymorphism rs11623866 as a potential predictive biomarker for lonafarnib treatment of ovarian cancer patients","article_path":"articles/PMC4631186.md","variant_annotation_id":1446899495,"variant_haplotypes":"rs11623866","gene":"FNTB","drugs":"carboplatin, lonafarnib, paclitaxel","pmid":26033044,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors actually compared progression free survival (PFS) and overall survival (OS) for individuals with the GG, CG, or CC genotypes between treatment arms: lonafarnib, paclitaxel, and carboplatin (LTC) versus paclitaxel and carboplatin (TC) treatment. The PFS and OS were both much lower in women with the GG genotype who were on the LTC treatment arms.","sentence":"Genotype GG is associated with response to carboplatin, lonafarnib and paclitaxel in women with Ovarian Neoplasms.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Ovarian Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5651309","article_title":"NFAT\u2010regulated cytokine gene expression during tacrolimus therapy early after renal transplantation","article_path":"articles/PMC5651309.md","variant_annotation_id":1448635746,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":28686294,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Dose normalized tacrolimus exposure was decreased in patients with the CT genotype (CYP3A5 *1/*3) (N=5): at baseline, and at 1.5 hours and 1 week post-dosing as compared with the CC (CYP3A5 *3/*3) genotype (n=23, P=0.033).","sentence":"Genotype CT is associated with decreased exposure to tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3640375","article_title":"Age and CYP3A5 genotype affect tacrolimus dosing requirements after transplant in pediatric heart recipients","article_path":"articles/PMC3640375.md","variant_annotation_id":1184514907,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":21930396,"phenotype_category":"Dosage","significance":"yes","notes":"Children with the CYP3A5 *1/*1 or *1/*3 genotype required higher doses (mg/kg/12 hours) of tacrolimus as compared to those with the *3/*3 genotype during the first 14 days after transplant.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in children with heart transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:heart transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC2896566","article_title":"Effects of SREBF-1a and SCAP polymorphisms on plasma levels of lipids, severity, progression and regression of coronary atherosclerosis and response to therapy with fluvastatin","article_path":"articles/PMC2896566.md","variant_annotation_id":982037057,"variant_haplotypes":"rs12487736","gene":"SCAP","drugs":"fluvastatin","pmid":12436350,"phenotype_category":"Efficacy","significance":"no","notes":"No association was found with lipid levels, progression or regression with genotypes for this polymorphism. Described as SCAP 2386A/G (I796V) - alleles are complemented here for the plus chromosomal strand.","sentence":"Allele T is not associated with response to fluvastatin in people with Coronary Artery Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162732,"variant_haplotypes":"rs1800871","gene":"IL10","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the EA population but it did not survive multiple testing correction. Direction of effect not stated.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4999337","article_title":"A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia","article_path":"articles/PMC4999337.md","variant_annotation_id":1184514020,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"azathioprine","pmid":25108385,"phenotype_category":"Toxicity","significance":"yes","notes":"As the number of copies of the T allele increased, the dose of azathioprine at which leukopenia occurred decreased. It was lowest in patients with the TT genotype and showed a gene-dose effect in the order of TTA.","sentence":"Genotype AG is associated with increased response to pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4208722","article_title":"GRIK4 polymorphism and its association with antidepressant response in depressed patients: a meta-analysis","article_path":"articles/PMC4208722.md","variant_annotation_id":1184998157,"variant_haplotypes":"rs1954787","gene":"GRIK4","drugs":"antidepressants","pmid":25303296,"phenotype_category":"Efficacy","significance":"yes","notes":"Meta-analysis combining 5 studies.","sentence":"Genotype CC is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166345,"variant_haplotypes":"rs3761372","gene":null,"drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele T is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373174,"variant_haplotypes":"rs2236256","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310630,"variant_haplotypes":"rs757110","gene":"ABCC8","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"yes","notes":"The AC genotype was associated with increased response to sulfonylureas (a greater than or equal to 7% decrease in Hb1Ac levels at least 3 months after beginning treatment).","sentence":"Genotypes AA + CC is associated with increased response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to genotype AC.","alleles":"AA + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} -{"pmcid":"PMC4892230","article_title":"CYP2B6*6 and CYP2B6*18 Predict Long-Term Efavirenz Exposure Measured in Hair Samples in HIV-Positive South African Women","article_path":"articles/PMC4892230.md","variant_annotation_id":1448993987,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":26655325,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2B6 *6 is associated with increased concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4764723","article_title":"The Impacts of SLC22A1 rs594709 and SLC47A1 rs2289669 Polymorphisms on Metformin Therapeutic Efficacy in Chinese Type 2 Diabetes Patients","article_path":"articles/PMC4764723.md","variant_annotation_id":1447980951,"variant_haplotypes":"rs594709","gene":"SLC22A1","drugs":"metformin","pmid":26977146,"phenotype_category":"Efficacy","significance":"yes","notes":"Looked at changes in the following as measures of metformin response between AA/GA (n=50) and GG genotype (n=3): fasting blood glucose (p=0.112), postprandial blood glucose (p=0.171), fasting insulting (p=0.015), postprandial insulin (p=0.259), glycosylated hemoglobin (p=0.227), triglycerides (p=p=0.434), total cholesterol (p=0.224), low-density lipoprotein (p=0.451), high-density lipoprotein (p=0.399), homeostasis model assessment of insulin resistance (p=0.081), homeostasis model assessment of insulin sensitivity (p=0.001), homeostasis model assessment of B cell function (p=0.493), and quantitative insulin sensitivity check index (p=0.002). Also, found an interaction between this SNP and SLC47A1 rs2289669, with patients with rs594709 AA genotypes and rs2289669 AA genotypes showing higher decrease in FBG (p=0.015), PINS (p=0.041), and HOMA-IR (p-0.014) than patients with rs2289669 GA or GG genotypes. Patients with rs594709 G allele carriers and also rs2289669 AA genotype showed greater decrease in TChol (p=0.013) than GA or GG genotypes.","sentence":"Genotypes AA + AG are associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3604156","article_title":"CYP3A5 Gene Variation Influences Cyclosporine A Metabolite Formation and Renal Cyclosporine Disposition","article_path":"articles/PMC3604156.md","variant_annotation_id":982023222,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"cyclosporine","pmid":23354298,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Increased metabolism was shown by increased area under the concentration-time curve (AUC) from time 0 to infinity (AUC0-infinity, units = ng hr/mL) and increased AUCmetabolite/AUCcyclosporine for the metabolites AM19 and AM1c9. These metabolites are secondary metabolites of cyclosporine, formed through the conversion of the cyclosporine primary metabolites AM1 and AM1c, respectively, by CYP3A5. Increased metabolism was also shown by decreased urinary clearance (CL, units = mL/min) and decreased estimated glomeruler filtration rate-normalized apparent urinary clearance (CL / eGFR) of cyclosporine.","sentence":"Genotypes CC + CT are associated with increased metabolism of cyclosporine in healthy individuals as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11773121","article_title":"Sub\u2010 and supratherapeutic efavirenz plasma concentrations with risk for HIV therapy failure are mainly genetically explained in Ugandan children: The prospective GENEFA cohort study","article_path":"articles/PMC11773121.md","variant_annotation_id":1452639820,"variant_haplotypes":"rs35303484","gene":"CYP2B6","drugs":"efavirenz","pmid":39380207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"heterozygosity in CYP2B6 c.136A>G predicted higher loge EFV plasma concentration. The latter SNP occurred in only one participant (id. 79), who despite being predicted as an IM (composite genotype 516GG|983TC), maintained very high EFV plasma levels (across study median of 12\u2009539\u2009ng\u2009mL\u22121, range 11\u2009163\u201323\u2009715\u2009ng\u2009mL\u22121). \"","sentence":"Genotype AG is associated with increased concentrations of efavirenz in children with HIV infectious disease as compared to genotype AA.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC1746721","article_title":"Effects of captopril administration on pulmonary haemodynamics and tissue oxygenation during exercise in ACE gene subtypes in patients with COPD: a preliminary study","article_path":"articles/PMC1746721.md","variant_annotation_id":982042629,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"captopril","pmid":12832683,"phenotype_category":"Efficacy","significance":"yes","notes":"The ATA.../ATA... genotype is associated with increased mixed venous oxygen tension (PvO2; units = mmHg) and decreased lactate concentration (units = mmol/l) after exercise, as compared to patients with the remaining genotypes. This indicates an increased response to captopril.","sentence":"Genotype ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC is associated with increased response to captopril in men with Pulmonary Disease, Chronic Obstructive as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del + del/del.","alleles":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Chronic Obstructive Pulmonary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del + del/del","comparison_metabolizer_types":null} -{"pmcid":"PMC7197488","article_title":"Association of Regulatory Genetic Variants for Protein Kinase C \u03b1 with Mortality and Drug Efficacy in Patients with Heart Failure","article_path":"articles/PMC7197488.md","variant_annotation_id":1451133400,"variant_haplotypes":"rs9909004","gene":"PRKCA","drugs":"\"Ace Inhibitors, Plain\", \"Angiotensin II Antagonists\", \"Beta Blocking Agents\"","pmid":31728800,"phenotype_category":"Efficacy","significance":"no","notes":"The authors note that this variant was in strong LD with rs9303504.","sentence":"Allele C is not associated with response to Ace Inhibitors, Plain, Angiotensin II Antagonists or Beta Blocking Agents in people with Heart Failure as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3818406","article_title":"A Single Nucleotide Polymorphism in cBIM Is Associated with a Slower Achievement of Major Molecular Response in Chronic Myeloid Leukaemia Treated with Imatinib","article_path":"articles/PMC3818406.md","variant_annotation_id":1184821109,"variant_haplotypes":"rs724710","gene":"BCL2L11","drugs":"imatinib","pmid":24223824,"phenotype_category":"Efficacy","significance":"yes","notes":"The T allele was also significantly associated with presence of mutations in the kinase domain of the BCR-ABL fusion protein and resistance to tyrosine kinase inhibitors. Response was defined as a ratio of BCR-ABl/ABl of less than or equal to 0.1% by 18 months of treatment with imatinib.","sentence":"Allele T is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678642,"variant_haplotypes":"rs17179101","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"no","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). Neither were significantly associated with any genotype.","sentence":"Genotype AC is not associated with response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6745302","article_title":"A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression","article_path":"articles/PMC6745302.md","variant_annotation_id":1450372702,"variant_haplotypes":"rs7905446","gene":"HTR7","drugs":"atomoxetine, desvenlafaxine, duloxetine, Selective serotonin reuptake inhibitors, venlafaxine","pmid":30874608,"phenotype_category":"Efficacy","significance":"yes","notes":"The TT genotype was associated with non-remission, white the GG and GT genotypes were associated with treatment remission at 6 weeks.; This association was seen with SSRI and SNRI treatment however, the exact drugs used in treatment were not specified.","sentence":"Genotype TT is associated with decreased response to atomoxetine, desvenlafaxine, duloxetine, Selective serotonin reuptake inhibitors or venlafaxine in people with Depression as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613490,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.","sentence":"Allele T is not associated with dose of selumetinib in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5563830","article_title":"Association of ABCB1 Gene Polymorphisms with Efficacy and Adverse Reaction to Risperidone or Paliperidone in Han Chinese Schizophrenic Patients","article_path":"articles/PMC5563830.md","variant_annotation_id":1448604030,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"risperidone","pmid":27456824,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles given as reverse strand C and T. Efficacy measured with reduction in PANSS total score reduced rate.","sentence":"Genotypes AA + AG are associated with increased response to risperidone in people with Schizophrenia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699034,"variant_haplotypes":"rs10118746","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104860,"variant_haplotypes":"rs1139916","gene":"GABRE","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele A is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114020,"variant_haplotypes":"rs9479757","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2920450","article_title":"Laboratory and Clinical Outcomes of Pharmacogenetic vs. Clinical Protocols for Warfarin Initiation in Orthopedic Patients","article_path":"articles/PMC2920450.md","variant_annotation_id":1448267502,"variant_haplotypes":"CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":18662264,"phenotype_category":"Dosage","significance":"not stated","notes":"Generation of an algorithm to predict warfarin dose based on these variants as well as VKORC1 rs9923231 and clinical factors, as well as analyses on the performance of the algorithm vs a clinical algorithm.","sentence":"CYP2C9 *2 + *3 are associated with dose of warfarin.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2959002","article_title":"Possible association of norepinephrine transporter -3081(A/T) polymorphism with methylphenidate response in attention deficit hyperactivity disorder","article_path":"articles/PMC2959002.md","variant_annotation_id":1450376393,"variant_haplotypes":"rs5569","gene":"SLC6A2","drugs":"methylphenidate","pmid":20929549,"phenotype_category":"Efficacy","significance":"no","notes":"ADHD Rating Scale-IV (ARS) and Clinical Global Impression (CGI) were used to assess response.","sentence":"Genotype GG is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4760888","article_title":"Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European\u2010Americans and Egyptians","article_path":"articles/PMC4760888.md","variant_annotation_id":1447677818,"variant_haplotypes":"rs12714145","gene":"GGCX","drugs":"warfarin","pmid":26751406,"phenotype_category":"Dosage","significance":"no","notes":"in European-Americans, and Egyptians.","sentence":"Genotype CC is not associated with dose of warfarin as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4762902","article_title":"LGR5 rs17109924 is a predictive genetic biomarker for time to recurrence in patients with colon cancer treated with 5-fluorouracil-based adjuvant chemotherapy","article_path":"articles/PMC4762902.md","variant_annotation_id":1446903250,"variant_haplotypes":"rs17109924","gene":"LGR5","drugs":"fluorouracil","pmid":25665511,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients who received 5-fluorouracil-based adjuvant chemotherapy and underwent surgery, who carried at least one C allele, had significantly increased time to tumor recurrence as compared to those with the TT genotype. No association was seen for patients who only underwent surgery (p=0.728; n=208).","sentence":"Genotypes CC + CT is associated with increased response to fluorouracil in people with Colonic Neoplasms as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colonic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715969,"variant_haplotypes":"rs2302663","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978577,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"carbamazepine","pmid":15805193,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with increased dose of carbamazepine in people with Epilepsy as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7423195","article_title":"Impact of ABCG2 polymorphisms on the clinical outcome and toxicity of gefitinib in non-small-cell lung cancer patients","article_path":"articles/PMC7423195.md","variant_annotation_id":827784391,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"gefitinib","pmid":21332310,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype GG is not associated with increased response to gefitinib in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726120,"variant_haplotypes":"rs2301759","gene":"STK11","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs2301759 as top SNP for STK11","sentence":"Allele C is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11141156","article_title":"Dose adjustment of paroxetine based on CYP2D6 activity score inferred metabolizer status in Chinese Han patients with depressive or anxiety disorders: a prospective study and cross-ethnic meta-analysis","article_path":"articles/PMC11141156.md","variant_annotation_id":1452484940,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer","gene":"CYP2D6","drugs":"paroxetine","pmid":38776596,"phenotype_category":"Efficacy","significance":"yes","notes":"\"At the 4-week treatment endpoint (Supplementary Table S2), we observed a trend of lower percentage improvement in symptom severity for UMs compared to EMs in the MDD group, after adjusting for predefined demographic covariates (age and sex), which was not statistically significant (multiple linear regression, standardized \u03b2 = \u22120.93, SE = 0.50, P = 0.07). However, in post-hoc analysis, when further adjusting for current episode duration, baseline symptom severity, daily dose, and adjunctive medication status, the effect of UM became marginally statistically significant (standardized \u03b2 = \u22120.98, SE = 0.50, P = 0.049).\"","sentence":"CYP2D6 ultrarapid metabolizer is associated with decreased clinical benefit to paroxetine in people with Depressive Disorder, Major as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2812115","article_title":"CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose","article_path":"articles/PMC2812115.md","variant_annotation_id":769250171,"variant_haplotypes":"rs71486745","gene":"CYP2C9","drugs":"phenytoin","pmid":19855097,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Statistics given for haplotype *1B measured by rs71486745delTG and rs12782374G>A.","sentence":"Genotypes GT/del + del/del are associated with decreased dose of phenytoin in people with Epilepsy as compared to genotype GTGT.","alleles":"GT/del + del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GTGT","comparison_metabolizer_types":null} -{"pmcid":"PMC4498982","article_title":"Genetic Polymorphism at Val80 (rs700518) of the CYP19A1 Gene is Associated with Body Composition Changes in Women on Aromatase Inhibitors for ER (+) Breast Cancer","article_path":"articles/PMC4498982.md","variant_annotation_id":1444880046,"variant_haplotypes":"rs700518","gene":"CYP19A1","drugs":"Enzyme inhibitors","pmid":26049585,"phenotype_category":"Other","significance":"yes","notes":"Please note the article studied changes in body composition. CC carriers developed a significant increase in truncal fat mass index (P=0.03) and a significant decrease in fat-free mass index (P=0.01) at 12 months compared to CT/TT carriers.","sentence":"Genotype CC is associated with response to Enzyme inhibitors in women with Breast Neoplasms as compared to genotypes CC + CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC2830598","article_title":"Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients","article_path":"articles/PMC2830598.md","variant_annotation_id":769166385,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":20078613,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele G is associated with increased response to fluorouracil, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2920450","article_title":"Laboratory and Clinical Outcomes of Pharmacogenetic vs. Clinical Protocols for Warfarin Initiation in Orthopedic Patients","article_path":"articles/PMC2920450.md","variant_annotation_id":1448267496,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":18662264,"phenotype_category":"Dosage","significance":"not stated","notes":"Generation of an algorithm to predict warfarin dose based on this rsID as well as CYP2C9*2 and *3 and clinical factors, as well as analyses on the performance of the algorithm vs a clinical algorithm.","sentence":"Allele A is associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340007,"variant_haplotypes":"CYP2C9*1, CYP2C9*5","gene":"CYP2C9","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, CYP2C9*5 allele is associated with 13.4mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"CYP2C9 *1/*5 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11022290","article_title":"Influence of novel CYP2C\u2010haplotype on proton pump inhibitor pharmacokinetics in children","article_path":"articles/PMC11022290.md","variant_annotation_id":1452452600,"variant_haplotypes":"rs2860840","gene":"CYP2C18","drugs":"lansoprazole, pantoprazole","pmid":38629502,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"This detailed PK analysis of 45 children who received one or more of the three study PPIs (oral pantoprazole, IV pantoprazole, oral lansoprazole) at different study visits found the CYP2C:TG haplotype to have no measurable impact on CYP2C19\u2010mediated metabolism of PPIs in vivo\" The unofficial haplotype CYP2C:TG comprises rs2860840T and rs11188059G.","sentence":"Allele T is not associated with increased metabolism of lansoprazole or pantoprazole in children as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8702453","article_title":"Comprehensive characterization of pharmacogenetic variants in TPMT and NUDT15 in children with acute lymphoblastic leukemia","article_path":"articles/PMC8702453.md","variant_annotation_id":1451725060,"variant_haplotypes":"rs73189762","gene":"NUDT15","drugs":"mercaptopurine","pmid":34412101,"phenotype_category":"Dosage","significance":"yes","notes":"This was only significant in the discovery cohort and not the validation cohort. The discovery cohort had one TT homozygote, the validation had zero (supplemental figures). Note, the variant is approximately 50kb downstream of the coding region of NUDT15.","sentence":"Allele T is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3530397","article_title":"GENOMIC ASSOCIATION ANALYSIS IDENTIFIES MULTIPLE LOCI INFLUENCING ANTIHYPERTENSIVE RESPONSE TO AN ANGIOTENSIN II RECEPTOR BLOCKER","article_path":"articles/PMC3530397.md","variant_annotation_id":827921929,"variant_haplotypes":"rs3758785","gene":"GPR83","drugs":"hydrochlorothiazide","pmid":22566498,"phenotype_category":"Efficacy","significance":"yes","notes":"Heterozygotes had intermediate response and pattern was the same for both SBP and DBP.","sentence":"Genotype GG is associated with decreased response to hydrochlorothiazide in people with essential hypertension as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC9373641","article_title":"The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study","article_path":"articles/PMC9373641.md","variant_annotation_id":1451445120,"variant_haplotypes":"rs2484516","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":33915198,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Genotype CC is not associated with dose of dexmedetomidine in men as compared to genotype CG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG","comparison_metabolizer_types":null} -{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374121,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"(S)-methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significance was lost following multivariate analysis.","sentence":"Genotypes GT + TT are associated with increased concentrations of (S)-methadone in people with Opioid-Related Disorders as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729123,"variant_haplotypes":"rs2279342","gene":"CYP2B6","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AT + TT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793996,"variant_haplotypes":"rs9937","gene":"RRM1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had shorter progression free survival than patients with either the AG or the GG genotype. However, tumor response to therapy did not significantly differ between genotype groups. This study presented this SNP as rs3177016, but dbSNP has merged that rsID with rs9937. There were four SNPs in this study that, when taken together, affected progression free survival: rs183484, rs2072671, rs760370, and rs9937. Using patients with 0 or 1 variant as reference, patients with 2 variants had an increased HR of 1.79 (P = 0.004) and patients with 3-4 variants has an increased HR of 3.25 (P < 0.001).","sentence":"Genotype AA is associated with decreased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5346878","article_title":"Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation","article_path":"articles/PMC5346878.md","variant_annotation_id":1449171398,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":27966227,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Dose-corrected tacrolimus exposure (AUC0-12/doseBW).","sentence":"Genotype CC is not associated with concentrations of tacrolimus in children with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376618,"variant_haplotypes":"rs6813183","gene":"ADGRL3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907621,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The plasma concentration of cyclophosphamide (CPA) 20 hours post dose (C20h) was not significantly different between genotypes, but plasma concentrations of the CPA metabolite of 4-OH-CPA was significantly influenced by CYP2B6 -750T>C and CYP2C19*2 genotype (p<0.001). Patients with CYP2C19 *1/*1 genotype had much higher 4-OH-CPA concentrations compared to CYP2C19*1/*2 or *2*2 genotype.","sentence":"Allele A is associated with decreased metabolism of cyclophosphamide in people with Lupus erythematosus as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680725,"variant_haplotypes":"rs28399454","gene":"CYP2A6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles presented as G and A","sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5402961","article_title":"The novel carboxylesterase 1 variant c.662A>G may decrease the bioactivation of oseltamivir in humans","article_path":"articles/PMC5402961.md","variant_annotation_id":1448994861,"variant_haplotypes":"rs200707504","gene":"CES1","drugs":"oseltamivir","pmid":28437488,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotype CT is associated with increased concentrations of oseltamivir in healthy individuals as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3818912","article_title":"META-ANALYSIS OF CYP2D6 METABOLIZER PHENOTYPE AND METOPROLOL PHARMACOKINETICS","article_path":"articles/PMC3818912.md","variant_annotation_id":1452643560,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"metoprolol","pmid":23665868,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects with a gene duplication resulting in more than two active CYP2D6 alleles (i.e., defined as *1, *2, *33, and *35) were classified as UMs. Subjects with two null alleles (i.e.,*3-*8, *11-*16, *19, *20, *21, *38, *40, *42, *44, *56, and *62) in a homozygous variant or compound heterozygous manner was classified as PM phenotype. \"Pooled analysis (n= 264) demonstrated differences in peak plasma metoprolol concentration, area under the concentration-time curve, elimination half-life, and apparent oral clearance that were 2.3-, 4.9-, 2.3-, and 5.9-fold between extensive and poor metabolizers, respectively, and 5.3-, 13-, 2.6-, and 15-fold between ultra-rapid and poor metabolizers (all p<0.001). \"","sentence":"CYP2D6 poor metabolizer is associated with decreased metabolism of metoprolol as compared to CYP2D6 ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"ultrarapid metabolizer"} -{"pmcid":"PMC4480925","article_title":"A Randomized Placebo-controlled Trial to Test a Genetically-informed Biomarker ForPersonalizing Treatment for Tobacco Dependence","article_path":"articles/PMC4480925.md","variant_annotation_id":1447983802,"variant_haplotypes":"CYP2A6 normal metabolizer","gene":"CYP2A6","drugs":"varenicline","pmid":25588294,"phenotype_category":"Efficacy","significance":"yes","notes":"as compared to nicotine patch. Subjects were assigned to CYP2A6 metabolizer groups (as slow, or poor and as normal, or extensive), which was based on nicotine metabolite ratio (NMR) to 11 weeks of placebo (pill and patch), nicotine patch (active patch, placebo pill), or varenicline (active pill, placebo patch) and behavioral counseling. Intention to treat analysis found that varenicline was better at maintaining tobacco abstinence 7 days after treatment in the extensive metabolizer group as compared to the slow metabolizer group. Poor metabolizers also reported greater severity of adverse events as compared to extensive metabolizers. Subjects treated at UPenn C. for Addiction and Mental Health, Toronto, SUNY Buffalo, MD Anderson Cancer Center.","sentence":"CYP2A6 normal metabolizer is associated with increased response to varenicline in people with Tobacco Use Disorder as compared to CYP2A6 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479807,"variant_haplotypes":"rs2525557","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3508798","article_title":"Possible effect of norepinephrine transporter polymorphisms on methylphenidate-induced changes in neuropsychological function in attention-deficit hyperactivity disorder","article_path":"articles/PMC3508798.md","variant_annotation_id":1450376415,"variant_haplotypes":"rs5569","gene":"SLC6A2","drugs":"methylphenidate","pmid":22591463,"phenotype_category":"Efficacy","significance":"not stated","notes":"After 8 weeks of treatment with methylphenidate, subjects with the G/ G genotype at the G1287A polymorphism showed more improvement in the mean omission error scores (p = 0.006) than those with the A/G or A/A genotypes. Subjects with the G/G genotype showed the greatest decrease in omission errors. Test of variables of attention (TOVA) described as continuous performance test (CPT).","sentence":"Genotype GG is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5862636","article_title":"Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans","article_path":"articles/PMC5862636.md","variant_annotation_id":1448573256,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*8, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":28135054,"phenotype_category":"Dosage","significance":"yes","notes":"in African American patients. CYP2C9 star alleles were grouped together for analysis ( CYP2C9*2, *3, *5, *8, *11).","sentence":"CYP2C9 *2 + *3 + *5 + *8 + *11 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2 + *3 + *5 + *8 + *11","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558004,"variant_haplotypes":"rs1901633","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1448519749,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3476140","article_title":"Association study between clinical response to rizatriptan and some candidate genes","article_path":"articles/PMC3476140.md","variant_annotation_id":1452551186,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"rizatriptan","pmid":17563839,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders to rizatriptan.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to rizatriptan in people with Migraine without Aura as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC4425504","article_title":"Association between Polymorphisms in Vascular Endothelial Growth Factor Gene and Response to Chemotherapies in Colorectal Cancer: A Meta-Analysis","article_path":"articles/PMC4425504.md","variant_annotation_id":1444842399,"variant_haplotypes":"rs2010963","gene":"VEGFA","drugs":"bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin","pmid":25955730,"phenotype_category":"Efficacy","significance":"no","notes":"Response was determined by RECIST criteria. In a subgroup analysis excluding the use of anti-angiogenic agents (e.g. bevacuzimab) no significant association was found for any genotypes and response to chemotherapy.","sentence":"Allele G is not associated with response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4731723","article_title":"TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis","article_path":"articles/PMC4731723.md","variant_annotation_id":1447982668,"variant_haplotypes":"rs5743894","gene":"TOLLIP","drugs":"acetylcysteine","pmid":26331942,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical endpoints included death, transplant, hospitalization, or FVC decline, and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center. Alleles given on reverse strand A and G.","sentence":"Genotype TT is not associated with response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pulmonary Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3890033","article_title":"Association of single nucleotide polymorphisms in MTHFR and ABCG2 with the different efficacy of first-line chemotherapy in metastatic colorectal cancer","article_path":"articles/PMC3890033.md","variant_annotation_id":1184747580,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"antineoplastic agents","pmid":24338217,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in response rate or progression-free survival time was seen between the genotypes. Patients were either receiving FOLFOX/XELOX or FOLFIRI regimens (respectively: fluorouracil, leucovorin, oxaliplatin; capecitabine, oxaliplatin; fluorouracil, leucovorin, irinotecan). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with response to antineoplastic agents in people with Colorectal Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4661296","article_title":"The Influence of C3435T Polymorphism of the ABCB1 Gene on Genetic Susceptibility to Depression and Treatment Response in Polish Population - Preliminary Report","article_path":"articles/PMC4661296.md","variant_annotation_id":1447676729,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"agomelatine, Melatonin receptor agonists, Selective serotonin reuptake inhibitors, venlafaxine","pmid":26664259,"phenotype_category":"Efficacy","significance":"yes","notes":"Effectiveness of therapy assessed by change in HDRS score. Patients were treated with either SSRIs alone, SSRI with another antidepressant, venlafaxine of serotonin and norepinephrine reuptake inhibitors, venlafaxine with another antidepressant, agomelatine, or a combination of other antidepressants.","sentence":"Genotype GG is associated with increased response to agomelatine, Melatonin receptor agonists, Selective serotonin reuptake inhibitors or venlafaxine in people with Depressive Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166147,"variant_haplotypes":"rs9032","gene":"STRBP","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6179259","article_title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","article_path":"articles/PMC6179259.md","variant_annotation_id":1449748095,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"atorvastatin, rosuvastatin, simvastatin","pmid":30304062,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotype GG is associated with decreased response to atorvastatin, rosuvastatin or simvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6426691","article_title":"Genome-wide association analysis of common genetic variants of resistant hypertension","article_path":"articles/PMC6426691.md","variant_annotation_id":1451100040,"variant_haplotypes":"rs6487504","gene":null,"drugs":"Antihypertensives","pmid":30237584,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was associated with increased odds of a patient developing resistant-hypertension. Participants were classified as having resistant hypertension if their SBP was \u2265140 or DBP \u2265 90 using three or more medications, or if they were using four or greater antihypertensive medications regardless of BP. However, this SNP failed to reach genome-wide significance in either the INVEST or SPS3 cohorts or when both cohorts were combined. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is associated with decreased response to Antihypertensives in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2855513","article_title":"RRM1 single nucleotide polymorphism -37C\u2192A correlates with progression-free survival in NSCLC patients after gemcitabine-based chemotherapy","article_path":"articles/PMC2855513.md","variant_annotation_id":1184175254,"variant_haplotypes":"rs1042858","gene":"RRM1","drugs":"carboplatin, gemcitabine","pmid":20226083,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to carboplatin and gemcitabine in people with Carcinoma, Non-Small-Cell Lung as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5606007","article_title":"Novel variants in NUDT15 and thiopurine intolerance in children with acute lymphoblastic leukemia from diverse ancestry","article_path":"articles/PMC5606007.md","variant_annotation_id":1448635204,"variant_haplotypes":"NUDT15*1, NUDT15*2","gene":"NUDT15","drugs":"mercaptopurine","pmid":28659275,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"One East Asian patient in Singapore was compound heterozygous for rs554405994insGACTCC and rs116855232C>T (corresponding to NUDT15 *2) as well as p.K35E; c.103A>G, which has no rsID. He was very sensitive to mercaptopurine with tolerated dosage of 8.5 mg/m2/day.","sentence":"NUDT15 *1/*2 is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1.","alleles":"*1/*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928129,"variant_haplotypes":"rs362306","gene":"HTT","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2908290","article_title":"Influence of pharmacogenetics on indinavir disposition and short-term response in HIV patients initiating HAART","article_path":"articles/PMC2908290.md","variant_annotation_id":608178494,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"indinavir","pmid":19440701,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"treated with indinavir and a ritonavir booster","sentence":"Genotype CC is associated with decreased metabolism of indinavir in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":982044373,"variant_haplotypes":"rs17708472","gene":"VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with increased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902855,"variant_haplotypes":"rs1104514","gene":null,"drugs":"atenolol","pmid":26425837,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele of this SNP was associated with better DBP response to atenolol, but with less pronounced response to hydrochlorothiazide in white patients.","sentence":"Genotypes AA + AG are associated with increased response to atenolol in people with Hypertension as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1184886844,"variant_haplotypes":"rs45445694","gene":"TYMS","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients homozygous for the 2 tandem repeat genotype (*2/*2) had higher rate of progressive response (a decrease of >30% of the longest diameter of lesions) and a lower rate of stable disease (no change in lesion diameter) as compared to patients heterozygous for the 2 and 3 tandem repeat genotype (*2/*3). Overall survival (OS) and progression free survival (PFS) was different between the two groups but not in a statistically significant manner (*2/*2 OS 20.9 months, PFS 10.2 months and *2/*3 OS 11.4 months and PFS 6.0 months).","sentence":"Genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 is associated with increased response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3.","alleles":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3","comparison_metabolizer_types":null} -{"pmcid":"PMC11022290","article_title":"Influence of novel CYP2C\u2010haplotype on proton pump inhibitor pharmacokinetics in children","article_path":"articles/PMC11022290.md","variant_annotation_id":1452452605,"variant_haplotypes":"rs11188059","gene":"CYP2C18","drugs":"lansoprazole, pantoprazole","pmid":38629502,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"This detailed PK analysis of 45 children who received one or more of the three study PPIs (oral pantoprazole, IV pantoprazole, oral lansoprazole) at different study visits found the CYP2C:TG haplotype to have no measurable impact on CYP2C19\u2010mediated metabolism of PPIs in vivo\" The unofficial haplotype CYP2C:TG comprises rs2860840T and rs11188059G.","sentence":"Allele G is not associated with increased metabolism of lansoprazole or pantoprazole in children as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5734971","article_title":"Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment","article_path":"articles/PMC5734971.md","variant_annotation_id":1449182322,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":29259946,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"No association was observed between this variant and a patient's initial dose requirement or their need to escalate their dose of morphine.","sentence":"Allele G is not associated with dose of morphine in people with Pain as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4890827","article_title":"A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration","article_path":"articles/PMC4890827.md","variant_annotation_id":1446907760,"variant_haplotypes":"rs2229935","gene":"NRP1","drugs":"ranibizumab","pmid":26426212,"phenotype_category":"Efficacy","significance":"no","notes":"Response was measured as change in visual acuity after 3 months of treatment in patients who received three monthly ranibizumab injections.","sentence":"Allele G is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4292894","article_title":"Genetic variation in the UGT1A locus is associated with simvastatin efficacy in a clinical practice setting","article_path":"articles/PMC4292894.md","variant_annotation_id":1296666974,"variant_haplotypes":"rs2003569","gene":"UGT1A9","drugs":"simvastatin","pmid":25493567,"phenotype_category":"Efficacy","significance":"yes","notes":"The mean Emax (maximum decrease in LDL-C) was 59.3 \u00b1 23.0, 62.0 \u00b1 22.4, and 69.7 \u00b1 24.8 mg/dl, for patients with 0, 1 or 2 copies of the minor A allele. The difference in response was greater in African-Americans than in European Americans when stratified by race.","sentence":"Allele A is associated with increased response to simvastatin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452569981,"variant_haplotypes":"rs1800587","gene":"IL1A","drugs":"almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4865408","article_title":"CES1P1 variant \u2212816A>C is not associated with hepatic carboxylesterase 1 expression, activity or antihypertensive effect of trandolapril","article_path":"articles/PMC4865408.md","variant_annotation_id":1447979801,"variant_haplotypes":"rs3785161","gene":"CES1P1","drugs":"trandolapril","pmid":26915813,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to trandolapril in people with Hypertension as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":1450980643,"variant_haplotypes":"rs8050894","gene":"VKORC1","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"With *1/*2 (CG) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA\"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs9923231, rs2884737, rs9934438; , and rs2359612 to define HaplotypeA.","sentence":"Genotype GG is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4956330","article_title":"Prediction of Warfarin Dose in Pediatric Patients: An Evaluation of the Predictive Performance of Several Models","article_path":"articles/PMC4956330.md","variant_annotation_id":1448255577,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":27453700,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"CYP2C9 *2 is associated with dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1.","alleles":"*2","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238732,"variant_haplotypes":"rs11100483","gene":"MAML3","drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to perphenazine in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677450,"variant_haplotypes":"rs2289105","gene":"CYP19A1","drugs":"hdl cholesterol","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole and lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in HDL-cholesterol of 6.2 mg/dL (SE 1.6).","sentence":"Allele T is associated with decreased concentrations of hdl cholesterol in women with Breast Neoplasms and Menopause as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10327396","article_title":"The impact of ABCB1, CYP3A4/5 and ABCG2 gene polymorphisms on rivaroxaban trough concentrations and bleeding events in patients with non-valvular atrial fibrillation","article_path":"articles/PMC10327396.md","variant_annotation_id":1452149926,"variant_haplotypes":"rs4728709","gene":"ABCB1","drugs":"rivaroxaban","pmid":37420302,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"no AA homozygotes were observed.","sentence":"Genotype GG is associated with increased dose-adjusted trough concentrations of rivaroxaban in people with Atrial Fibrillation as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4002970","article_title":"IGF2BP2 variations influence repaglinide response and risk of type 2 diabetes in Chinese population","article_path":"articles/PMC4002970.md","variant_annotation_id":981502261,"variant_haplotypes":"rs1470579","gene":"IGF2BP2","drugs":"repaglinide","pmid":20523342,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"The parameters that showed decreased response were FPG(fasting plasma glucose) and PPG(postprandial plasma glucose). The authors noted that the C allele frequency was higher in the Type 2 Diabetes patients than in the healthy controls when the entire trial population of 350 patients and 207 controls was assayed (C freq = 0.3029 vs 0.2464) . The subset of patients treated with repaglinide all had the same CYP2C8 genotypes(with respect to *3- but exact genotypes not given) and SLCO1B1 genotypes(with respect to *1B,*5 and *15, but exact genotypes not given) .","sentence":"Genotypes AC + CC are associated with decreased response to repaglinide in people with Diabetes Mellitus, Type 2 as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC10880264","article_title":"Pharmacogenetic Factors Influence Escitalopram Pharmacokinetics and Adverse Events in Youth with a Family History of Bipolar Disorder: A Preliminary Study","article_path":"articles/PMC10880264.md","variant_annotation_id":1452390346,"variant_haplotypes":"CYP2C19 intermediate metabolizer","gene":"CYP2C19","drugs":"escitalopram","pmid":38377518,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CPIC guidelines used to assign CYP2C19 metabolizer phenotypes based on CYP2C19: *1, *2,*3, *4, *5, *6, *7, *8, *17. \"CYP2C19 metabolizer phenotype had a significant effect on the dose-normalized AUC0\u201324 (p\u2009=\u20090.025), Ctrough (p\u2009=\u20090.013), and t1/2 (p\u2009=\u20090.0008) of escitalopram (Fig. 1).\u201d \"CYP2C19 metabolizer phenotypes were almost exclusively rapid metabolizer (RM n\u2009=\u200917), normal metabolizer (NM n\u2009=\u200931), or intermediate metabolizer (IM n\u2009=\u200917), with only one ultrarapid metabolizer (UM) and no poor metabolizers (PMs).\"","sentence":"CYP2C19 intermediate metabolizer is associated with increased dose-adjusted trough concentrations of escitalopram in children with Depression or Anxiety Disorders as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Depression, Other:Anxiety Disorders","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114801,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and virologic suppression in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A6986G.","sentence":"Allele C is not associated with response to lopinavir or ritonavir in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188665,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations refers to area under the concentration time curve (0-48hrs)","sentence":"Genotype TT is associated with decreased concentrations of methotrexate in children with Osteosarcoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC1364741","article_title":"The pharmacokinetics of ondansetron after intravenous injection in healthy volunteers phenotyped as poor or extensive metabolisers of debrisoquine","article_path":"articles/PMC1364741.md","variant_annotation_id":1446896329,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"ondansetron","pmid":8018461,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Cmax, AUC, plasma clearance (calculated from Dose/AUC) and half-life were measured with no significant differences in any category between poor and extensive metabolizers. Metabolizer status had been previously determined using oral debrisoquine as the substrate probe. No genotyping or genetics was used in this study.","sentence":"CYP2D6 poor metabolizer is not associated with decreased metabolism of ondansetron in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC1754569","article_title":"Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis","article_path":"articles/PMC1754569.md","variant_annotation_id":1444668176,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"etanercept","pmid":12759288,"phenotype_category":"Efficacy","significance":"yes","notes":"When this genotype is combined with the rs1800896 CC genotype. Those with the GG-CC combination genotype were more likely to be responders to treatment, as compared to those with any other combination of genotypes. However, no significant difference in genotype frequencies was seen between responders and non-responders when considering the rs1800629 or 1800896 SNPs alone. Responders defined using the American College of Rheumatology (ACR) response criteria and response criteria based on the modified disease activity score (DAS)28 index. Non-responders failed to fulfill both these criteria.","sentence":"Genotype GG is associated with increased response to etanercept in people with Arthritis, Rheumatoid as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3579261","article_title":"Population pharmacokinetics of unbound mycophenolic acid in adult allogeneic haematopoietic cell transplantation: effect of pharmacogenetic factors","article_path":"articles/PMC3579261.md","variant_annotation_id":1448107184,"variant_haplotypes":"rs17868320","gene":"UGT1A9","drugs":"mycophenolic acid","pmid":22765258,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotype CC is not associated with any pharmacokinetic parameters measured in the study when exposed to mycophenolic acid as compared to genotype TT.","sentence":"Genotype CC is not associated with metabolism of mycophenolic acid as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4651007","article_title":"The Effect Of Alcohol Priming On Neural Markers Of Alcohol Cue-Reactivity","article_path":"articles/PMC4651007.md","variant_annotation_id":1450823384,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":26125586,"phenotype_category":"Other","significance":"not stated","notes":"MRI study. Subjects carrying the G allele showed increased pre- vs. post-priming alcohol cue reactivity activation in the left caudate, thalamus, putamen, and bilateral supramarginal gyrus and parietal operculum cortex compared to subjects with the AA genotype.","sentence":"Genotypes AG + GG are associated with increased response to ethanol in people with Alcoholism as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3244642","article_title":"Dosing equation for tacrolimus using genetic variants and clinical factors","article_path":"articles/PMC3244642.md","variant_annotation_id":1184515001,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21671989,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Patients carrying at least one CYP3A5*1 allele had lower trough tacrolimus levels than CYP3A5*3/*3 carriers at 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22 and 24 week post-transplantation. Compared to CYP3A5*3/*3 carriers, CL/F was increased by 69% in CYP3A5*1/*3 carriers, and increased by 100 in CYP3A5*1/*1 carriers. Other factors affecting tacrolimus CL/F were days post transplant, transplantation at a steroid sparing center, recipient's age and the use of calcium channel blockers.","sentence":"Allele T is associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2757655","article_title":"Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans","article_path":"articles/PMC2757655.md","variant_annotation_id":1447519677,"variant_haplotypes":"rs8050894","gene":"VKORC1","drugs":"warfarin","pmid":18466099,"phenotype_category":"Dosage","significance":"yes","notes":"in European Americans.","sentence":"Genotypes CG + GG are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171059,"variant_haplotypes":"rs8192709","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CT is associated with increased concentrations of (S)-EDDP as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375658,"variant_haplotypes":"rs76979899","gene":"ABCG2","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele T is associated with decreased response to allopurinol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4111883","article_title":"Characterisation of the Clinical Pharmacokinetics of Actinomycin D and the Influence of ABCB1 Pharmacogenetic Variation on Actinomycin D Disposition in Children with Cancer","article_path":"articles/PMC4111883.md","variant_annotation_id":1445296351,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"dactinomycin","pmid":24968986,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in actinomycin D clearance was seen between the genotypes (AA, AG, GG). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with clearance of dactinomycin in children with Neoplasms as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2480976","article_title":"UGT1A1*28 genotype and irinotecan dosage in patients with metastatic colorectal cancer: a Dutch Colorectal Cancer Group study","article_path":"articles/PMC2480976.md","variant_annotation_id":1451206740,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":18594531,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference was seen in median total irinotecan dose received over all cycles (g/m2), or in frequency of reductions in irinotecan dose after treatment cycle 1 between the genotypes in patients were treated with irinotecan monotherapy or irinotecan plus capecitabine.","sentence":"UGT1A1 *1/*28 + *28/*28 are not associated with dose of irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11082567","article_title":"The Association Between Clozapine Plasma Concentration, CYP2D6 (*10, *2) Polymorphisms and Risk of Adverse Reactions","article_path":"articles/PMC11082567.md","variant_annotation_id":1452487100,"variant_haplotypes":"rs1065852","gene":"CYP2D6","drugs":"clozapine","pmid":38765922,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Compared with the corresponding groups, the clozapine plasma concentrations of individuals with the *10TT genotype and individuals with the *2CC genotype were the highest (P < .05). \"","sentence":"Genotype AA is associated with increased concentrations of clozapine in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238713,"variant_haplotypes":"rs17570753","gene":"MCPH1","drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to perphenazine in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4488893","article_title":"Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption","article_path":"articles/PMC4488893.md","variant_annotation_id":1447984289,"variant_haplotypes":"rs4803381","gene":"CYP2A6","drugs":"nicotine","pmid":26132489,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In the discovery stage: Participants derived from 1) the PKTWIN study and 2) the SMOFAM studyBoth were assessed for nicotine metabolite ratio (NMR) which was used as a biomarker of CYP2A6 activity. Nominally significant SNPs in the discovery stage were tested in the validation stage. Validation stage participants were self-identified White participants from 8 clinical trials of smoking cessation therapies conducted in six US sites.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949716,"variant_haplotypes":"rs17110453","gene":"CYP2C8","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes AC + CC is not associated with resistance to clopidogrel in people with Stroke as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2901912","article_title":"CYP2C9 Genotype and Pharmacodynamic Responses to Losartan in Patients with Primary and Secondary Kidney Diseases","article_path":"articles/PMC2901912.md","variant_annotation_id":1183490976,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"losartan","pmid":19669737,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with secondary kidney diseases carrying CYP2C9 variant alleles (*2 or *3) showed increases in blood pressure (both systolic and diastolic) as compared to patients with the *1/*1 genotype. A nonsignificant trend towards improved urinary protein excretion was seen in patients with primary kidney diseases with the *1/*1 genotype as compared to patients carrying variant alleles (*2 or *3).","sentence":"CYP2C9 *1/*2 is associated with decreased response to losartan in people with Kidney Diseases as compared to CYP2C9 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3753327","article_title":"Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model","article_path":"articles/PMC3753327.md","variant_annotation_id":1183697690,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":23990957,"phenotype_category":"Dosage","significance":"yes","notes":"A gene-dose effect was seen in that dose of warfarin decreased with the presence of the T allele: CC>CT>TT. When studied together with CYP2C9, patients carrying variants in both genes needed between 34.8% and 84% of the dose needed for patients wildtype for both genes.","sentence":"Genotype TT is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6005582","article_title":"Population pharmacokinetics of voriconazole and CYP2C19 polymorphisms for optimizing dosing regimens in renal transplant recipients","article_path":"articles/PMC6005582.md","variant_annotation_id":1449275114,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":29607533,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"106 patients were prospectively included in a population PK analysis. Non-linear mixed effect models were used and dosing simulations were performed based on the final model. A one-compartment model with first-order absorption and elimination was used to characterize voriconazole pharmacokinetics. CYP2C19 genotype had a significant effect on the clearance. Voriconazole trough concentrations in poor metabolizers were significantly higher than in both intermediate metabolizers and extensive metabolizers.","sentence":"CYP2C19 *2 + *3 is associated with increased concentrations of voriconazole in people with Kidney Transplantation as compared to CYP2C19 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10527451","article_title":"Population Pharmacokinetics, Pharmacodynamics, and Pharmacogenetics Modeling of Oxypurinol in Hmong Adults with Gout and/or Hyperuricemia","article_path":"articles/PMC10527451.md","variant_annotation_id":1452106230,"variant_haplotypes":"rs505802","gene":"SLC22A12","drugs":"allopurinol","pmid":37202871,"phenotype_category":"Dosage","significance":"not stated","notes":"\"Most individuals with both PDZK1 rs12129861 AA and SLC22A12 rs505802 CC genotypes achieve target SU (with at least 75% success rate) with allopurinol below the maximum dose, regardless of renal function and body mass. In contrast, individuals with both PDZK1 rs12129861 GG and SLC22A12 rs505802 TT genotypes would require more than the maximum dose, thus selecting alternative medications.\"","sentence":"Allele T is associated with increased dose of allopurinol in people with Gout as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2757655","article_title":"Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans","article_path":"articles/PMC2757655.md","variant_annotation_id":1447519671,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":18466099,"phenotype_category":"Dosage","significance":"yes","notes":"in European Americans and African Americans.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10914946","article_title":"Genetic Variants Associated With Response to Platinum-Based Chemotherapy in Non-Small Cell Lung Cancer Patients: A Field Synopsis and Meta\u2010Analysis","article_path":"articles/PMC10914946.md","variant_annotation_id":1452403243,"variant_haplotypes":"rs1048943","gene":"CYP1A1","drugs":"Platinum compounds","pmid":38450253,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Similarly, an increased risk of chemoresistance was observed ... as well as for CYP1A1 rs1048943 (dominant model, OR = 2.593, 95% CI = 1.535\u20134.381, p < 0.01; heterozygous model, OR = 2.512, 95% CI = 1.437\u20134.392, p < 0.01; allele model, OR = 1.851, 95% CI = 1.303\u20132.631, p < 0.01),\"","sentence":"Genotypes CC + CT is associated with increased resistance to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2754599","article_title":"CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti","article_path":"articles/PMC2754599.md","variant_annotation_id":1184471365,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":19659438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As determined by significantly higher efavirenz plasma levels. This SNP was only significant in composite analysis with rs3745274: extensive metabolizers were defined as having no variant alleles at positions 516 (allele G) or (983 allele T), intermediate metabolizers had a single variant at one of the positions but not both, slow metabolizers (described as \"poor\" here) had 2 variant alleles (either genotype 516TT, 983CC, or 516 GT with 983 TC). Significant after Bonferroni correction for multiple comparisons.","sentence":"Allele C (assigned as poor metabolizer phenotype) is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to allele T (assigned as normal metabolizer phenotype) .","alleles":"C","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC11558073","article_title":"The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy","article_path":"articles/PMC11558073.md","variant_annotation_id":1452709580,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"valproic acid","pmid":39539630,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The rs1057910 variant (CYP2C9*3) was associated with increased ADC with a mean of 4.9 \u00b1 1.75 [(ug/mL/day)/(mg/kg)] in carriers vs 4.15 \u00b1 1.61 in wildtype individuals (p = 0.028). \"","sentence":"Genotype AC is associated with increased dose-adjusted trough concentrations of valproic acid in people with Epilepsy as compared to genotype AA.","alleles":"AC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5795999","article_title":"Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population","article_path":"articles/PMC5795999.md","variant_annotation_id":1452362380,"variant_haplotypes":"rs3846662","gene":"HMGCR","drugs":"hmg coa reductase inhibitors","pmid":29295555,"phenotype_category":"Efficacy","significance":"no","notes":"With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.","sentence":"Genotypes AG + GG are not associated with response to hmg coa reductase inhibitors as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5161051","article_title":"Impact of efavirenz pharmacokinetics and pharmacogenomics on neuropsychological performance in older HIV-infected patients","article_path":"articles/PMC5161051.md","variant_annotation_id":1448265859,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":27655857,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significant association was seen at T=12 and 18 hours.","sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4254688","article_title":"Ethnic and genetic factors in methadone pharmacokinetics: A population pharmacokinetic study","article_path":"articles/PMC4254688.md","variant_annotation_id":1447520720,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"methadone","pmid":25456329,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased clearance of methadone in people with Opioid-Related Disorders as compared to genotypes AC + CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767352,"variant_haplotypes":"rs75328711","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2652833","article_title":"A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose","article_path":"articles/PMC2652833.md","variant_annotation_id":637880237,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19300499,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479783,"variant_haplotypes":"rs929087","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1365155","article_title":"An unequal cross-over event within the CYP2D gene cluster generates a chimeric CYP2D7/CYP2D6 gene which is associated with the poor metabolizer phenotype","article_path":"articles/PMC1365155.md","variant_annotation_id":1184755882,"variant_haplotypes":"CYP2D6*5, CYP2D6*13","gene":"CYP2D6","drugs":"dextromethorphan","pmid":8554938,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Study identified *13 in a male with a dextromethorphan poor metabolizer phenotype (PM was defined with a log DEM/DOR higher -0.5. All the exons were successfully amplified using except exon 1 which required a combination of CYP2D7 gene-specific 5' primer and a CYP2D6 gene-specific 3' primer. he chimeric gene is non-functional presumably due to an insertion in exon 1 (characteristic of the exon 1 of the CYP2D7 gene) which causes a shift in the reading frame with premature termination of translation.","sentence":"CYP2D6 *5/*13 (assigned as poor metabolizer phenotype) is associated with decreased metabolism of dextromethorphan.","alleles":"*5/*13","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438555,"variant_haplotypes":"rs1801159","gene":"DPYD","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 3.3E-3.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388257,"variant_haplotypes":"rs4148945","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with data in pgkb, actual base not listed in paper)","sentence":"Allele C is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC9080200","article_title":"Influence of cytochrome P450 and glutathione S transferase polymorphisms on response to nilotinib therapy among chronic myeloidleukemia patients from Pakistan","article_path":"articles/PMC9080200.md","variant_annotation_id":1451782480,"variant_haplotypes":"rs1695","gene":"GSTP1","drugs":"nilotinib","pmid":35527244,"phenotype_category":"Efficacy","significance":"yes","notes":"Rs number from PharmGKB, effects reported for GSTP1A313G. Excerpt \"wild type CYP1A1, GSTP1 and GSTM1 deletion was significantly frequent in responders. The partial responders carried heterozygous mutant genotypes of CYP1A1, GSTP1 and wild type of GSTM1/GSTT1 whereas homozygous GSTP1genotype was significantly linked to treatment failure.\"","sentence":"Allele A is associated with increased response to nilotinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501862,"variant_haplotypes":"rs2461817","gene":"NR1I2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in the whole cohort. As measured by a higher carbamazepine-10-11 epoxide: carbamazepine ratio. However, Allele C was associated with decreased clearance in African American patients (p=0.03, n=30).","sentence":"Allele C is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6851426","article_title":"Pharmacogenomics and Placebo Response in a Randomized Clinical Trial in Asthma","article_path":"articles/PMC6851426.md","variant_annotation_id":1451123480,"variant_haplotypes":"rs2392165","gene":null,"drugs":"nedocromil","pmid":31557306,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes AG + GG are not associated with response to nedocromil in children with Asthma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407539,"variant_haplotypes":"rs4818","gene":"COMT","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele G is not associated with response to morphine in healthy individuals as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3984266","article_title":"Germline Variation in Colorectal Risk Loci Does Not Influence Treatment Effect or Survival in Metastatic Colorectal Cancer","article_path":"articles/PMC3984266.md","variant_annotation_id":1446895512,"variant_haplotypes":"rs7014346","gene":null,"drugs":"fluorouracil, irinotecan, oxaliplatin","pmid":24727911,"phenotype_category":"Efficacy","significance":"no","notes":"SNPs were investigated for their effects on response rate, time to progression and overall survival. After accounting for multiple testing there was no association with any SNPs and outcomes of patients with metastatic colorectal cancer.","sentence":"Allele A is not associated with response to fluorouracil, irinotecan and oxaliplatin in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms, Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954089,"variant_haplotypes":"rs228697","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166050,"variant_haplotypes":"rs9901675","gene":"FXR2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele A is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451114046,"variant_haplotypes":"rs6473797","gene":"OPRK1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271217,"variant_haplotypes":"CYP2D6 poor metabolizers and intermediate metabolizers","gene":"CYP2D6","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP2D6 *1, *2,; *2A, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *14, *15, *17 and; *41 alleles as well as gene duplication and then assigned metabolizer phenotypes.","sentence":"CYP2D6 poor metabolizers and intermediate metabolizers is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer and ultra-metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703546,"variant_haplotypes":"rs2282143","gene":"SLC22A1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving a major cytogenetic response (MCgR) within 12 months. MCgR was defined as achieving either a complete or partial cytogenetic response (CCgR; PCgR). Cytogenetic response was based on bone marrow assessment, where CCgR was 0% Ph+ cells, and PCgR was >0 to 35% Ph+ cells.","sentence":"Genotype CC is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557909,"variant_haplotypes":"rs4673990","gene":"ATIC","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477286,"variant_haplotypes":"rs1805010","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the AA genotype have a reduced frequency of asthma exacerbations compared to those with the AG + GG genotypes.","sentence":"Genotype AA is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":1444708196,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage","significance":"no","notes":"CYP2C9 affected the phenprocoumon concentration, but not the dose requirements.","sentence":"CYP2C9 *1/*2 + *2/*2 + *2/*3 + *1/*3 + *3/*3 are not associated with decreased dose of phenprocoumon as compared to CYP2C9 *1/*1.","alleles":"*1/*2 + *2/*2 + *2/*3 + *1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451116000,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lopinavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association was significant in white patients only. Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is associated with increased trough concentration of lopinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310639,"variant_haplotypes":"rs5219","gene":"KCNJ11","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"yes","notes":"The CT genotype was associated with increased response to sulfonylureas (a greater than or equal to 7% decrease in Hb1Ac levels at least 3 months after beginning treatment).","sentence":"Genotype CT is associated with increased response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11246689","article_title":"Genetic variants of ABCB1 and CES1 genes on dabigatran metabolism in the Kazakh population","article_path":"articles/PMC11246689.md","variant_annotation_id":1452536003,"variant_haplotypes":"rs2244613","gene":"CES1","drugs":"dabigatran","pmid":39011438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with the rs2244613 GG genotype had a lower concentration (55.27 \u00b1 34.22 ng/ml) compared to those with the TT genotype (63.33 \u00b1 52.25 ng/ml) (additive model, P = 0.000). \"","sentence":"Genotypes GG + GT is associated with decreased concentrations of dabigatran in people with Atrial Fibrillation as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4565152","article_title":"Genetic Variation at the LDL Receptor and HMG CoA Reductase Gene Loci, Lipid Levels, Statin Response, and Cardiovascular Disease Incidence in PROSPER","article_path":"articles/PMC4565152.md","variant_annotation_id":769152897,"variant_haplotypes":"rs17238540","gene":"HMGCR","drugs":"pravastatin","pmid":18261733,"phenotype_category":"Efficacy","significance":"no","notes":"PROSPER study. Baseline Lipid Values, LDL-C lowering response,trial CHD and CVD outcomes were measured. 40 mg/day pravastatin. There was also no association with baseline lipid level or baseline CVD.","sentence":"Allele G is not associated with response to pravastatin in people with Vascular Diseases as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Vascular Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5427048","article_title":"The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients","article_path":"articles/PMC5427048.md","variant_annotation_id":1451095020,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":28229376,"phenotype_category":"Metabolism/PK","significance":"no","notes":"reported for *28 (rs1057868 T).","sentence":"Genotypes CT + TT is not associated with trough concentration of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3444290","article_title":"Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at baseline and after lifestyle, metformin or troglitazone intervention in the Diabetes Prevention Program","article_path":"articles/PMC3444290.md","variant_annotation_id":981479950,"variant_haplotypes":"rs13266634","gene":"SLC30A8","drugs":"metformin","pmid":21779873,"phenotype_category":"Efficacy","significance":"no","notes":"This was measured at 1 year.","sentence":"Allele C is not associated with response to metformin in people with high risk of developing diabetes as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:high risk of developing diabetes","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452435020,"variant_haplotypes":"rs3740066","gene":"ABCC2","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Based on available allele frequency data, it is assumed that the paper compares the C and T alleles.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340140,"variant_haplotypes":"rs2884737","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 19.6mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes AC + CC are associated with decreased dose of warfarin as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5945500","article_title":"Correlation of MDR1 gene polymorphism with propofol combined with remifentanil anesthesia in pediatric tonsillectomy","article_path":"articles/PMC5945500.md","variant_annotation_id":1449311615,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"propofol, remifentanil","pmid":29755652,"phenotype_category":"Efficacy","significance":"yes","notes":"Referred to as 1236 C>T in the paper. Please note that alleles have been complemented to the positive strand.; Patients with the GG genotype were determined to have an increased response to propofol/remifentanil anesthesia compared to patients with the AA or AG genotypes as patients with the GG genotype had a decreased time of induction, respiration recovery, eye-opening and extubation in addition to reduced blood pressure and heart rate values, increased postsurgery analgesia (as determined by VAS score) and decreased postsurgery sedation (as determined by Ramsey score). However, GG patients also had increased FLACC score, indicating increased pain following extubation.","sentence":"Genotype GG is associated with increased response to propofol and remifentanil in children as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC2959002","article_title":"Possible association of norepinephrine transporter -3081(A/T) polymorphism with methylphenidate response in attention deficit hyperactivity disorder","article_path":"articles/PMC2959002.md","variant_annotation_id":1450376384,"variant_haplotypes":"rs28386840","gene":"SLC6A2","drugs":"methylphenidate","pmid":20929549,"phenotype_category":"Efficacy","significance":"not stated","notes":"ADHD Rating Scale-IV (ARS) and Clinical Global Impression (CGI) were used to assess response. Of the subjects who had the T allele as one of the alleles (A/T or T/T genotypes) at the -3081(A/T) polymorphism, 61.4% (51 of 83) showed a good response (CGI-I = 1 or 2) to MPH treatment. However, only 37.9% (11 of 29) of the subjects with the A/A genotype showed a good response to MPH treatment (p = 0.03) = trend of significance.","sentence":"Genotypes AT + TT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype AA.","alleles":"AT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981793989,"variant_haplotypes":"rs1042858","gene":"RRM1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype AA is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105627,"variant_haplotypes":"rs9024","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype GG is associated with decreased exposure to doxorubicin in people with Breast Neoplasms as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157221,"variant_haplotypes":"rs1042114","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2547143","article_title":"\u03b1-ADDUCIN POLYMORPHISM ASSOCIATED WITH INCREASED RISK OF ADVERSE CARDIOVASCULAR OUTCOMES: RESULTS FROM INVEST-GENES","article_path":"articles/PMC2547143.md","variant_annotation_id":982033246,"variant_haplotypes":"rs4961","gene":"ADD1","drugs":"atenolol, verapamil","pmid":18657677,"phenotype_category":"Efficacy","significance":"no","notes":"The effect of diuretic use on risk of cardiovascular outcomes did not vary by rs4961 genotype.","sentence":"Genotype GG is not associated with increased response to atenolol or verapamil in people with Hypertension as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3895354","article_title":"Population pharmacokinetic and pharmacogenetic analysis of tacrolimus in paediatric liver transplant patients","article_path":"articles/PMC3895354.md","variant_annotation_id":1184998539,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23738951,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Median value for C/D over one year post-transplantation was lower for CYP3A5*1 carriers compared to CYP3A5*3 homozygotes.","sentence":"Genotypes CT + TT is associated with increased dose of tacrolimus in children with liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4032230","article_title":"The Influence of 5-HTTLPR Genotype on the Association between the Plasma Concentration and Therapeutic Effect of Paroxetine in Patients with Major Depressive Disorder","article_path":"articles/PMC4032230.md","variant_annotation_id":1452054600,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"paroxetine","pmid":24858363,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in response (non-/responder, MADRS improvement (%) per time) in patients receiving paroxetine.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to paroxetine in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC10815823","article_title":"SLCO1B1 Genetic Variation Influence on Atorvastatin Systemic Exposure in Pediatric Hypercholesterolemia","article_path":"articles/PMC10815823.md","variant_annotation_id":1452363580,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"atorvastatin","pmid":38254988,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The mean AVA AUC0\u201324 was 2.8-fold higher in the c.521C/C group and 1.7-fold higher in the c.521T/C group relative to the participants with the reference genotype (Figure 3B, Table 2).\"","sentence":"Allele C is associated with increased dose-adjusted trough concentrations of atorvastatin in children with Hypercholesterolemia as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5727167","article_title":"Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population","article_path":"articles/PMC5727167.md","variant_annotation_id":1449157689,"variant_haplotypes":"rs4149117","gene":"SLCO1B3","drugs":"warfarin","pmid":29234073,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype GG is associated with decreased dose of warfarin as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2794921","article_title":"A Genome-Wide Association Study of Citalopram Response in Major Depressive Disorder","article_path":"articles/PMC2794921.md","variant_annotation_id":981502448,"variant_haplotypes":"rs6966038","gene":null,"drugs":"citalopram","pmid":19846067,"phenotype_category":"Efficacy","significance":"no","notes":"It was also associated with remission. Neither association was significant after correction (430,198 SNPs tested). Frequencies listed below are for responders vs. nonresponders. Authors point out the lack of placebo control.","sentence":"Allele G is associated with increased response to citalopram in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183616504,"variant_haplotypes":"CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"*6/*6 is associated with high plasma efavirenz concentrations (units = mg/L), as shown through multivariate analysis. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"CYP2B6 *6/*6 is associated with decreased clearance of efavirenz in people with HIV.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479819,"variant_haplotypes":"rs4729562","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752060,"variant_haplotypes":"rs12404655","gene":"CDA","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes AG + GG is associated with increased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701116,"variant_haplotypes":"CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9*2 and *3 explained 12% (P = 6.63 x 10(-34)) of the variation in warfarin dose.","sentence":"CYP2C9 *3 is associated with decreased dose of warfarin.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162891,"variant_haplotypes":"rs657075","gene":"IL3","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the EA population but it did not survive multiple testing correction. Direction of effect not stated. This is a proxy SNP for rs181781.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672760,"variant_haplotypes":"rs137904044","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449165990,"variant_haplotypes":"rs3210967","gene":"ZDHHC7","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715962,"variant_haplotypes":"rs1153702","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693781,"variant_haplotypes":"rs361525","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in genotype frequencies was seen between those who were responders to treatment and those who were non-responders. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation.","sentence":"Genotype GG is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815009,"variant_haplotypes":"rs2980976","gene":"TNFRSF11A","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of A alleles present in a patient was positively associated with CGI-S score.","sentence":"Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5558541","article_title":"Rooted in risk: genetic predisposition for low-density lipoprotein cholesterol level associates with diminished low-density lipoprotein cholesterol response to statin treatment","article_path":"articles/PMC5558541.md","variant_annotation_id":1448263702,"variant_haplotypes":"rs629301","gene":"SORT1","drugs":"hmg coa reductase inhibitors","pmid":27648687,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by lesser reductions in LDL-C. These individuals were also more likely to start out with higher LDL-C before treatment.","sentence":"Allele T is associated with decreased response to hmg coa reductase inhibitors in people with Cardiovascular Diseases and Hypercholesterolemia as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease, Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11240873","article_title":"Precision Dosing for Tacrolimus Using Genotypes and Clinical Factors in Kidney Transplant Recipients of European Ancestry","article_path":"articles/PMC11240873.md","variant_annotation_id":1451714340,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":33512723,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The C allele is equivalent to the CYP3A5*3 allele.","sentence":"Genotypes CT + TT are associated with increased clearance of tacrolimus in people with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5028170","article_title":"The correlation between CYP2D6 isoenzyme activity and haloperidol efficacy and safety profile in patients with alcohol addiction during the exacerbation of the addiction","article_path":"articles/PMC5028170.md","variant_annotation_id":1448993587,"variant_haplotypes":"rs3892097","gene":"CYP2D6","drugs":"haloperidol","pmid":27695358,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by a smaller difference in score between day 0 and day 5 on SoPA, Scale of Pathological Addiction; HARS, Hamilton Anxiety Rating Scale; BAI, Beck Anxiety Inventory; CARS, Covi Anxiety Scale; ZARS, Zung Self-Rating Anxiety Scale; SARS, Sheehan Clinical Anxiety Rating Scale; HDRS, Hamilton Rating Scale for Depression.","sentence":"Genotype CC is associated with decreased response to haloperidol in men with Alcohol-Related Disorders, Alcoholic psychosis NOS and Alcoholism as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Alcoholic psychosis, Disease:Alcohol abuse, Disease:Alcohol-Related Disorders","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166337,"variant_haplotypes":"rs17279558","gene":"GGH","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407825,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"no","notes":"Study-wide significance was set to p<0.017.","sentence":"Allele A is not associated with response to butorphanol in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3657889","article_title":"Cytochrome P450 (CYP2C9*2,*3) & vitamin-K epoxide reductase complex (VKORC1 -1639G20 mg/wk (P=0.014).","sentence":"CYP2C9 *2 is associated with decreased dose of acenocoumarol as compared to CYP2C9 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450985200,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"ritonavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"overall ritonavir CL/F was \u223c1.9-fold faster in subjects with zero versus two CGC haplotype\"\"and was 1.47-fold faster in subjects with zero versus one CGC copy\". In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 8-14 (atazanavir plus ritonavir).","sentence":"Genotype AA is associated with increased clearance of ritonavir in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512532,"variant_haplotypes":"rs3732356","gene":"NR1I2","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between TT, GT, GG genotypes of this SNP.","sentence":"Genotype GG is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038060,"variant_haplotypes":"rs2542051","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AC + CC are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680162,"variant_haplotypes":"rs73294475","gene":"CRHR2","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation. This was assessed as a replication attempt for a previously reported association of a different CRHR2 SNP with response to bronchodilators. Bonferroni correction was performed according to the number of SNPs included that are within 50 kb up and downstream of CRHR2.","sentence":"Genotype CT is associated with increased response to salbutamol in children with Asthma as compared to genotype TT.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10838100","article_title":"Association of HTR1A Gene Polymorphisms with Efficacy and Plasma Concentrations of Atypical Antipsychotics in the Treatment of Male Patients with Schizophrenia","article_path":"articles/PMC10838100.md","variant_annotation_id":1452378788,"variant_haplotypes":"rs6295","gene":"HTR1A","drugs":"risperidone","pmid":38312123,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"At 6 weeks, \"statistically significant difference in plasma concentration between genotypes at the rs6295 locus (t = 2.113, P = 0.048) (Table 4).\"","sentence":"Genotypes CG + GG is associated with increased concentrations of risperidone in men with Schizophrenia as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC8553963","article_title":"Influence of Cytochrome P450 2C19 Genotype on Helicobacter pylori Proton Pump Inhibitor-Amoxicillin-Clarithromycin Eradication Therapy: A Meta-Analysis","article_path":"articles/PMC8553963.md","variant_annotation_id":1451581560,"variant_haplotypes":"CYP2C19 normal metabolizer genotype","gene":"CYP2C19","drugs":"amoxicillin, clarithromycin, omeprazole","pmid":34721043,"phenotype_category":"Efficacy","significance":"yes","notes":"\"RR of failed eradication in CYP2C19 EMs compared with PMs was 1.66 (95% CI: 1.12\u20132.46, p = 0.01).\"","sentence":"CYP2C19 normal metabolizer is associated with decreased clinical benefit to amoxicillin, clarithromycin and omeprazole in people with Helicobacter Infections as compared to CYP2C19 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC4505931","article_title":"Effect of zinc supplementation on insulin secretion: interaction between zinc and SLC30A8 genotype in Old Order Amish","article_path":"articles/PMC4505931.md","variant_annotation_id":1296599203,"variant_haplotypes":"rs13266634","gene":"SLC30A8","drugs":"insulin recombinant, zinc acetate","pmid":25348609,"phenotype_category":"Efficacy","significance":"yes","notes":"The aim of the study was to determine whether zinc supplements improved insulin response in people with the CT+TT genotypes as compared to people with the CC genotypes. After being administered insulin without zinc, fasting characteristics were similar across genotypes except for C-peptide:insulin ratio, insulin AUC at 5 and 10 minutes, which were significantly lower in the CC genotype group. The proinsulin:insulin ratio at 5 and 10 minutes after insulin and glucose as well as the C-peptide:insulin ratio at 5 and 10 minutes after insulin and glucose were also lower in the CC genotype group compared to the CT+TT genotype group. People with the CT+TT genotypes had significantly improved responses to insulin when it was supplemented with zinc acetate as compared to CC genotypes.","sentence":"Genotypes CT + TT is associated with increased response to insulin recombinant and zinc acetate in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479797,"variant_haplotypes":"rs2527894","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10864595","article_title":"Optimizing the initial tacrolimus dosage in Chinese children with lung transplantation within normal hematocrit levels","article_path":"articles/PMC10864595.md","variant_annotation_id":1452386542,"variant_haplotypes":"CYP3A5*1","gene":"CYP3A5","drugs":"tacrolimus","pmid":38357508,"phenotype_category":"Dosage","significance":"not stated","notes":"\"For children with lung transplantation who do not carry the CYP3A5*1 gene and have coadministration with voriconazole, tacrolimus dosages of 0.01 and 0.02\u2005mg/kg/day split into two doses are recommended for children weighing 10-17 and 17-40\u2005kg, respectively. For children with lung transplantation who carry the CYP3A5*1 gene and have coadministration with voriconazole, a tacrolimus dosage of 0.02\u2005mg/kg/day split into two doses is recommended for children weighing 10-40\u2005kg.\"","sentence":"CYP3A5 *1 is associated with increased dose of tacrolimus in children with lung transplantation.","alleles":"*1","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699002,"variant_haplotypes":"rs1165016","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4190075","article_title":"ABCC3 and OCT1 genotypes influence pharmacokinetics of morphine in children","article_path":"articles/PMC4190075.md","variant_annotation_id":1184998709,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"morphine","pmid":25155932,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Children with the AA genotype had higher levels of morphine-3-glucuronide metabolite formation - no difference between genotypes of this SNP were seen for morphine-6-glucuronide formation or morphine clearance. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with increased metabolism of morphine in children as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3598593","article_title":"Effect of Fenofibrate Therapy and ABCA1 Polymorphisms on High Density Lipoprotein Subclasses in the Genetics of Lipid Lowering Drugs and Diet Network","article_path":"articles/PMC3598593.md","variant_annotation_id":982044801,"variant_haplotypes":"rs2230808","gene":"ABCA1","drugs":"fenofibrate","pmid":20346718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had a greater small high-density lipoprotein (HDL) particle concentration (units = umol/L) and a greater total HDL particle concentration after fenofibrate treatment for 3 weeks, as compared to patients with the TT genotype.","sentence":"Genotype CC is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3622803","article_title":"Genetic Variation in BDNF is Associated with Antipsychotic Treatment Resistance in Patients with Schizophrenia","article_path":"articles/PMC3622803.md","variant_annotation_id":1183697777,"variant_haplotypes":"rs10501087","gene":"BDNF-AS","drugs":"antipsychotics","pmid":23433505,"phenotype_category":"Efficacy","significance":"yes","notes":"The C allele is associated with increased odds of resistance to antipsychotic treatment. Resistance was assessed by whether patients were taking clozapine, since clozapine is indicated for patients poorly responsive or resistant to first-line treatments.","sentence":"Genotypes CC + CT is associated with increased resistance to antipsychotics in people with Schizophrenia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822078,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":26042510,"phenotype_category":"Dosage","significance":"yes","notes":"Women who carried the G allele were significantly less likely to be alcohol consumers than other groups.","sentence":"Genotypes AG + GG are associated with decreased dose of ethanol in women as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896070,"variant_haplotypes":"rs13015447","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974006,"variant_haplotypes":"rs77576241","gene":"PIK3CA","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479802,"variant_haplotypes":"rs2527887","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245459,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"aspirin, clopidogrel","pmid":21392617,"phenotype_category":"Efficacy","significance":"no","notes":"These patients had coronary arterial stenting. Comparison was T carriers (TT + CT) vs non-carriers (CC) but the template doesn't accommodate this choice. *17 SNP. ADP-induced ex vivo platelet aggregation was measured. [stat_test: chi-square]","sentence":"Allele T is not associated with increased response to aspirin and clopidogrel in people with Coronary Artery Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180321,"variant_haplotypes":"rs6551665","gene":"ADGRL3","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448435370,"variant_haplotypes":"rs215095","gene":"ABCC1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AG + GG are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC11758033","article_title":"Sodium channel mutation SCN1A T875M, D188V and associated dysfunction with drug resistant epilepsy","article_path":"articles/PMC11758033.md","variant_annotation_id":1452856373,"variant_haplotypes":"rs121918623","gene":"SCN1A","drugs":"antiepileptics","pmid":39974498,"phenotype_category":"Efficacy","significance":"no","notes":"Alleles complemented. \"Whereas, on comparing the distribution of SCN1A rs121918623 C/T* genotypic variants, no significant difference was observed across both the study groups, with a P value of 1.00 (Table 2).\"","sentence":"Allele A is not associated with increased resistance to antiepileptics in people with Epilepsy as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104820,"variant_haplotypes":"rs1050316","gene":"MEF2D","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders.","sentence":"Allele T is not associated with response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907885,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele G is not associated with metabolism of cyclophosphamide in people with as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639212,"variant_haplotypes":"rs255100","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":"in replication cohort with adult patients.","sentence":"Allele A is not associated with decreased response to salbutamol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3988270","article_title":"Genetic variation in OPRD1 and the response to treatment for opioid dependence with buprenorphine in European American females","article_path":"articles/PMC3988270.md","variant_annotation_id":1184513732,"variant_haplotypes":"rs581111","gene":"OPRD1","drugs":"buprenorphine, methadone","pmid":24126707,"phenotype_category":"Efficacy","significance":"no","notes":"Opioid dependence. This genetic variant did not have a significant effect on the percentage of opioid-positive urine drug screens or missing urine drug screens in males. Note that significant results were seen for females. Patients were treated with buprenorphine or methadone for 24 weeks.","sentence":"Allele A is not associated with response to buprenorphine or methadone in men with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3383686","article_title":"Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients","article_path":"articles/PMC3383686.md","variant_annotation_id":982046452,"variant_haplotypes":"rs1799793","gene":"ERCC2","drugs":"Platinum compounds","pmid":22761669,"phenotype_category":"Efficacy","significance":"no","notes":"No significant relationship between genotype and drug response was detected.","sentence":"Allele C is not associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613196,"variant_haplotypes":"rs4553808","gene":"CTLA4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in CYP3A5 expressors but the opposite association was seen in CYP3A5 expressers. The time of measurement was 30 days after transplantation. Day 7 and day 90 after transplantation did not show a significant association.","sentence":"Genotype AA is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4104334","article_title":"Identification of Candidate Single-Nucleotide Polymorphisms in NRXN1 Related to Antipsychotic Treatment Response in Patients with Schizophrenia","article_path":"articles/PMC4104334.md","variant_annotation_id":1447674771,"variant_haplotypes":"rs10490162","gene":"NRXN1","drugs":"antipsychotics","pmid":24633560,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients homozygous for the T allele had significant improvement in positive symptoms (p=0.0045), general psychopathology (p=0.0146), thought disturbance (p=0.0029), activation (p=0.008), anergia (p=0.0266) and negative symptoms (p=0.0047), while patients carrying the C allele showed no overall response. No significant results were seen for paranoid belligerence (p=0.1598) or depression (p=0.1869). Additionally, no significant results were seen when the associations for positive and negative symptoms and general psychopathology were tested for replication in a different cohort (CATIE study). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with increased response to antipsychotics in people with Schizophrenia as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767340,"variant_haplotypes":"rs17163303","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10645035","article_title":"Association of CYP3A5*3, CYP3A4*18 & CYP2B6*6 polymorphisms with imatinib treatment outcome in Azerbaijani chronic myeloid leukaemia patients","article_path":"articles/PMC10645035.md","variant_annotation_id":1452239460,"variant_haplotypes":"rs28371759","gene":"CYP3A4","drugs":"imatinib","pmid":37706370,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. No GG homozygotes were observed. Authors describe effect as \"\"In contrast, the frequency of the; CYP3A4*18 allele was significantly elevated in; the poor responders (100%) compared to the good; responders (97.1%; P=0.036; Table II).\" but the table lists *18 as present (Heterozygous (TC)) in the IM good responders and not the IM resistant.","sentence":"Genotype AG is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563885,"variant_haplotypes":"UGT1A6*1a, UGT1A6*2a","gene":"UGT1A6","drugs":"valproic acid","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Compared with homozygous carriers of the major UGT1A6 allele, heterozygous carriers of the UGT1A6*2 allele exhibited a 9% (95% CI, 3%-15%) reduction in valproate plasma concentrations, while the reduction in homozygous UGT1A6*2 carriers did not reach statistical significance (Table 3).\" \"UGT1A6*2: rs6759892, rs2070959, or rs1105879\"","sentence":"UGT1A6 *2a is associated with decreased concentrations of valproic acid as compared to UGT1A6 *1a/*1a.","alleles":"*2a","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1a/*1a","comparison_metabolizer_types":null} -{"pmcid":"PMC5534241","article_title":"A Longitudinal HbA1c Model Elucidates Genes Linked to Disease Progression on Metformin","article_path":"articles/PMC5534241.md","variant_annotation_id":1448267876,"variant_haplotypes":"rs2954625","gene":"CSMD1","drugs":"metformin","pmid":27415606,"phenotype_category":"Efficacy","significance":"yes","notes":"using computational model-based approaches and genetic, demographic, and long-term HbA1c data from 1,056 patients.","sentence":"Genotypes CT + TT are associated with decreased response to metformin in people with Diabetes Mellitus as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672680,"variant_haplotypes":"rs199515342","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is associated with decreased metabolism of nicotine as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5763654","article_title":"Monitoring of peripheral blood cluster of differentiation 4+ adenosine triphosphate activity and CYP3A5 genotype to determine the pharmacokinetics, clinical effects and complications of tacrolimus in patients with autoimmune diseases","article_path":"articles/PMC5763654.md","variant_annotation_id":1449172248,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29375701,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the occurrence rate of inadequate response to treatment was seen between the genotypes.","sentence":"CYP3A5 *1/*1 + *1/*3 is not associated with response to tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5148898","article_title":"Genetic polymorphisms of patients on stable warfarin maintenance therapy in a Ghanaian population","article_path":"articles/PMC5148898.md","variant_annotation_id":1448601916,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":27938396,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype AG is associated with increased dose of warfarin in people with Atrial Fibrillation, Cardiomyopathies, heart valve replacement, Peripheral Vascular Diseases, Pulmonary Embolism and Venous Thrombosis as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Cardiomyopathies, Disease:Heart valve replacement, Disease:Peripheral Vascular Diseases, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5904201","article_title":"Influence of APOA5 Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects","article_path":"articles/PMC5904201.md","variant_annotation_id":1449311002,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"simvastatin","pmid":29695967,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were randomized to receive one of three dose-adjusted statins (N = 65 rosuvastatin, N= 65 atorvastatin, N= 65 simvastatin) and cholesterol (HDL, LDL), triglycerides and free-fatty acids (FFA) were compared between groups before and after statin treatment. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with increased response to simvastatin in people with Dyslipidaemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Dyslipidaemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10152845","article_title":"Genetic Polymorphisms in ERCC1 Gene and Their Association with Response to Radiotherapy in Moroccan Patients with Nasopharyngeal Carcinoma","article_path":"articles/PMC10152845.md","variant_annotation_id":1452000942,"variant_haplotypes":"rs3212986","gene":"ERCC1","drugs":"radiotherapy","pmid":36708557,"phenotype_category":"Efficacy","significance":"no","notes":". Statistical analyses showed no significant; association between the radio-resistance status and,; C8092A genotypes (p=0.81) and allelic frequencies; (p=0.56).","sentence":"Allele A is not associated with resistance to radiotherapy in people with Nasopharyngeal Neoplasms as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7340566","article_title":"Systematic Review and Meta-Analysis of the Moderating Effect of rs1799971 in OPRM1, the Mu-opioid Receptor Gene, on Response to Naltrexone Treatment of Alcohol Use Disorder","article_path":"articles/PMC7340566.md","variant_annotation_id":1451141783,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":31961981,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between the variant and drinking outcomes following correction for multiple comparisons. A meta-analysis combined all outcomes measured also found no significant association with the variant.","sentence":"Allele G is not associated with response to naltrexone in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666909,"variant_haplotypes":"rs2241767","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotype AA are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896199,"variant_haplotypes":"rs113889867","gene":"STMN2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376539,"variant_haplotypes":"rs2550948","gene":"SLC6A3","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"yes","notes":"For the genetic component, in the CGI-S model, a dominant effect in SLC6A3 rs2550948 was found with a significant improvement in the symptoms. Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Genotypes CC + CT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4405819","article_title":"CYP2B6*6, CYP2B6*18, Body weight and sex are predictors of efavirenz pharmacokinetics and treatment response: population pharmacokinetic modeling in an HIV/AIDS and TB cohort in Zimbabwe","article_path":"articles/PMC4405819.md","variant_annotation_id":1448997158,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":25889207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CC + CT are associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928225,"variant_haplotypes":"rs2494732","gene":"AKT1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147565,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the C allele. The C allele is also referred to in the paper as the CYP3A5*3 allele.","sentence":"Allele C is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512504,"variant_haplotypes":"rs3003596","gene":"NR1I3","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Plasma levels of efavirenz were significantly lower in patients with the GG genotype compared to the AA genotype, and in patients with the AG genotype compared to the AA genotype. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is associated with increased metabolism of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6759913","article_title":"Genome\u2010Wide Meta\u2010Analysis of Blood Pressure Response to \u03b21\u2010Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies)","article_path":"articles/PMC6759913.md","variant_annotation_id":1451120506,"variant_haplotypes":"rs28404156","gene":"BST1","drugs":"Beta blocking agents, selective","pmid":31423876,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with an improved systolic blood pressure response. This variant met the suggestive level of significance in the discovery meta-analysis and was successfully replicated. However, it did not reach genome-wide significance in a meta-analysis of the discovery and replication data.","sentence":"Allele A is associated with increased response to Beta blocking agents, selective in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8359222","article_title":"Avoiding Tacrolimus Underexposure and Overexposure with a Dosing Algorithm for Renal Transplant Recipients: A Single Arm Prospective Intervention Trial","article_path":"articles/PMC8359222.md","variant_annotation_id":1451643100,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":33452682,"phenotype_category":"Dosage","significance":"not stated","notes":"see Rx annotation for algorithm.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4469933","article_title":"Association between opioid receptor mu 1 (OPRM1) gene polymorphisms and tobacco and alcohol consumption in a Spanish population","article_path":"articles/PMC4469933.md","variant_annotation_id":1450822141,"variant_haplotypes":"rs10485057","gene":"OPRM1","drugs":"nicotine","pmid":26042510,"phenotype_category":"Dosage","significance":"no","notes":"Subjects with the AA genotype had increased tobacco consumption, but this association failed to meet statistical significance.","sentence":"Genotype AA is associated with increased dose of nicotine as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11140026","article_title":"Genetic determinants of serum bilirubin using inferred native American gene variants in Chilean adolescents","article_path":"articles/PMC11140026.md","variant_annotation_id":1452502202,"variant_haplotypes":"rs1910167","gene":"SLCO1B1, SLCO1B3, SLCO1B7","drugs":"bilirubin","pmid":38826804,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Among the suggestive variants, we found the rs1910167 variant, effect allele C, in the solute carrier organic anion transporter family member 1B3 (SLCO1B3), 1B7 (SLCO1B7), and upstream of 1B1 (SLCO1B1), beta = 0.16 mg/dL total bilirubin, p = 1.26 \u00d7 10\u22126. This variant masked 368 other significant variants in the vicinity in high linkage disequilibrium and has a frequency of 8.3% in GOCS (Supplementary Table S4).\" \"The variant rs887829 near UGT1A1 explained 34.98% of the variation in total bilirubin levels, while the rs1910167 variant near SLCO1B1 only explained 4.61%. \"","sentence":"Allele C is associated with increased concentrations of bilirubin in children as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4168390","article_title":"Characterizing variability in warfarin dose requirements in children using modelling and simulation","article_path":"articles/PMC4168390.md","variant_annotation_id":1184654330,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":24330000,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. A two-fold difference in dose between children with the CC and TT genotype was found. A table predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype is presented in the paper. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. Note: alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is associated with increased dose of warfarin in children with Heart Diseases as compared to genotype TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373223,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4356257","article_title":"Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients","article_path":"articles/PMC4356257.md","variant_annotation_id":1447675747,"variant_haplotypes":"rs3087399","gene":"REV1","drugs":"cisplatin","pmid":25748439,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not associated with event-free survival (p = 0.458) or overall survival (p = 0.707), as determined by recurrence or death, with a mean follow-up time of 143 months.","sentence":"Genotypes CC + CT are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4113831","article_title":"Effectiveness of clopidogrel dose escalation to normalize active metabolite exposure and antiplatelet effects in CYP2C19 poor metabolizers","article_path":"articles/PMC4113831.md","variant_annotation_id":1184167161,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"clopidogrel","pmid":24710841,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Assays done in blood samples of six each of *1/*1 (EM/GG),*1/*2(IM/AG) and *2/*2(PM/AA) [based on only assaying for *2; 2 EMs were *1/*17 and one IM was a *2/*17] were compared for MPA4 (maximal platelet aggregation 4 hrs post-dose) and for active metabolite area under the curve. For the EMs, this result was significant for both the 150 and 300 mg/day doses; for the IMs and PMs, it was significant for the 300 mg/day dose. At day 8, PMs needed 300 mg/day and IMs needed 150 mg/day to attain a similar MPA4 as EMs on the 75 mg/day dose.","sentence":"Allele A (assigned as poor metabolizer phenotype) is associated with increased dose of clopidogrel in healthy individuals as compared to allele G (assigned as normal metabolizer phenotype) .","alleles":"A","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046695,"variant_haplotypes":"rs1799809","gene":"PROC","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"Daily dose of phenprocoumon is not significantly associated with this SNP. Daily dose is negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is also not significantly associated with phenprocoumon concentration.","sentence":"Genotype AA is not associated with increased dose of phenprocoumon as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170923,"variant_haplotypes":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A5","drugs":"tamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11140815","article_title":"Effect of apolipoprotein E (APOE) gene polymorphisms on the lipid profile of children being treated for acute lymphoblastic leukemia","article_path":"articles/PMC11140815.md","variant_annotation_id":1452430560,"variant_haplotypes":"rs429358","gene":"APOE","drugs":"cholesterol","pmid":38507115,"phenotype_category":"Toxicity","significance":"yes","notes":"\"Specifically, children with the TT genotype presented significantly higher total cholesterol and LDL cholesterol \u03ba\u03b1\u03b9 apoB-100 levels compared to children with the TC\u2009+\u2009CC genotypes (p\u2009=\u20090.033, p\u2009=\u20090.009, and p\u2009=\u20090.012, respectively). The same applies to \u03b53/\u03b53 isoforms.\"","sentence":"Genotype TT is associated with increased concentrations of cholesterol in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5006145","article_title":"Impact of CYP2C9, VKORC1 and CYP4F2 genetic polymorphisms on maintenance warfarin dosage in Han-Chinese patients: A systematic review and meta-analysis","article_path":"articles/PMC5006145.md","variant_annotation_id":1449258301,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":27617219,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7039663","article_title":"Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD","article_path":"articles/PMC7039663.md","variant_annotation_id":1450180215,"variant_haplotypes":"rs28386840","gene":"SLC6A2","drugs":"methylphenidate","pmid":29230023,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AT + TT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype AA.","alleles":"AT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165153,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with exposure to metformin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC1978168","article_title":"The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis","article_path":"articles/PMC1978168.md","variant_annotation_id":982046919,"variant_haplotypes":"CYP2D6*1, CYP2D6*5","gene":"CYP2D6","drugs":"codeine","pmid":17517247,"phenotype_category":"Efficacy","significance":"yes","notes":"Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.","sentence":"CYP2D6 *5 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.","alleles":"*5","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4890827","article_title":"A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration","article_path":"articles/PMC4890827.md","variant_annotation_id":1446907768,"variant_haplotypes":"rs2247383","gene":"NRP1","drugs":"ranibizumab","pmid":26426212,"phenotype_category":"Efficacy","significance":"no","notes":"Response was measured as change in visual acuity after 3 months of treatment in patients who received three monthly ranibizumab injections.","sentence":"Allele G is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449558022,"variant_haplotypes":"rs6064463","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862218,"variant_haplotypes":"rs4818","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs2239393, rs740603, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here. Since this is a G/C SNP, there is ambiguity regarding which is the associated allele. C is reported to be part of the haplotype associated with decreased dose, and this gene is on the positive chromosomal strand.","sentence":"Allele C is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4560372","article_title":"Association between CXCL10 and DPP4 Gene Polymorphisms and a Complementary Role for Unfavorable IL28B Genotype in Prediction of Treatment Response in Thai Patients with Chronic Hepatitis C Virus Infection","article_path":"articles/PMC4560372.md","variant_annotation_id":1446904186,"variant_haplotypes":"rs56061981","gene":"CXCL10","drugs":"peginterferon alfa-2a, peginterferon alfa-2b","pmid":26339796,"phenotype_category":"Efficacy","significance":"yes","notes":"PEG-interferon alfa (2a and b) was co-adminstered with ribavirin. Response was assessed by sustained virological response (SVR) percent by genotype. When assessed alone, the polymorphism was not significantly associated with SVR. However, in patients infected with hepatitis C- genotype I (N=266), who also carried the rs12979860 CT or TT genotypes, the CT+TT genotypes of rs56061981 became associated with increased rats of SVR when compared to patients with the CC genotype (CC+CT genotype 66.7% vs. CC genotype 33.0%, P = 0.004). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes CT + TT are associated with increased response to peginterferon alfa-2a or peginterferon alfa-2b in people with Hepatitis C, Chronic as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2995295","article_title":"Pharmacogenetic Predictors of Statin-Mediated Low-Density Lipoprotein Cholesterol Reduction and Dose Response","article_path":"articles/PMC2995295.md","variant_annotation_id":827807830,"variant_haplotypes":"rs7412","gene":"APOE","drugs":"atorvastatin, pravastatin, simvastatin","pmid":20031551,"phenotype_category":"Efficacy","significance":"yes","notes":"As measured by reduction in LDLc. Association was significant only at high doses.","sentence":"Allele C is associated with decreased response to atorvastatin, pravastatin or simvastatin in people with Hyperlipidemias as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703309,"variant_haplotypes":"rs1876829","gene":"CRHR1","drugs":"fluticasone propionate","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The minor allele is reported to be associated with increased response. dbSNP lists C as the minor allele in a CEU panel.","sentence":"Allele C is associated with increased response to fluticasone propionate in people with Asthma as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2792638","article_title":"Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial","article_path":"articles/PMC2792638.md","variant_annotation_id":982048078,"variant_haplotypes":"rs4359","gene":"ACE","drugs":"ramipril","pmid":17885551,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was also reported as ACE C17888T. This SNP was in linkage disequilibrium with rs4344, D' = .88. Patients homozygous for this SNP (CC or TT) responded to ACE inhibitor treatment (reached target blood pressure) faster than patients heterozygous (CT) for this SNP.","sentence":"Genotypes CC + TT are associated with increased response to ramipril in people with Hypertension as compared to genotype CT.","alleles":"CC + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6174029","article_title":"A novel UGT1 marker associated with better tolerance against irinotecan-induced severe neutropenia in metastatic colorectal cancer patients","article_path":"articles/PMC6174029.md","variant_annotation_id":1444936816,"variant_haplotypes":"rs11563250","gene":"UGT1A","drugs":"bilirubin","pmid":25778466,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of the G allele had a 17.5% decrease in total bilirubin as compared to those with the AA genotype. This suggests that carriers of the G allele may have elevated activity of UGT1A1 (the sole UGT1A enzyme responsible for bilirubin glucuronidation and subsequent elimination).","sentence":"Genotypes AG + GG is associated with decreased concentrations of bilirubin in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935739,"variant_haplotypes":"rs140278421","gene":"CYP2C19","drugs":"mephenytoin","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of S-mephenytoin by CYP2C19 protein containing the A allele was 6.5% of that of the WT protein. Variant referred to as 557G>A in the paper.","sentence":"Allele A is associated with decreased clearance of mephenytoin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1451164161,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"atazanavir / ritonavir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":"even though *28/*28 was significant (see annotation on homozygote).","sentence":"UGT1A1 *1/*28 is not associated with increased discontinuation of atazanavir / ritonavir in people with HIV Infections as compared to UGT1A1 *1/*1.","alleles":"*1/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3525178","article_title":"Influence of SLCO1B1 and CYP2C8 gene polymorphisms on rosiglitazone pharmacokinetics in healthy volunteers","article_path":"articles/PMC3525178.md","variant_annotation_id":1450935228,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*5, SLCO1B1*15, SLCO1B1*16","gene":"SLCO1B1","drugs":"rosiglitazone","pmid":19129086,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There were no significant differences in rosiglitazone pharmacokinetic parameters between SLCO1B1 diplotype groups. Note *17 was listed in the original publication. *17 was merged with *15 due to PharmVar 2021 update.","sentence":"SLCO1B1 *5 + *15 + *16 are not associated with concentrations of rosiglitazone in healthy individuals as compared to SLCO1B1 *1/*1.","alleles":"*5 + *15 + *16","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4806848","article_title":"Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients","article_path":"articles/PMC4806848.md","variant_annotation_id":1448256709,"variant_haplotypes":"rs17180299","gene":null,"drugs":"methadone","pmid":27010727,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study specifically found an association with R-methadone enantiomer concentration. The association with the G allele was a dose effect, with patients with the GG genotyping having higher concentrations than patients with AG genotype. Patients included were heroin-dependent.","sentence":"Genotypes AG + GG are associated with increased concentrations of methadone in people with Opioid-Related Disorders as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3034442","article_title":"Glycine and a Glycine Dehydrogenase (GLDC) SNP as Citalopram/Escitalopram Response Biomarkers in Depression: Pharmacometabolomics-informed Pharmacogenomics","article_path":"articles/PMC3034442.md","variant_annotation_id":769164370,"variant_haplotypes":"rs10975641","gene":"GLDC","drugs":"citalopram, escitalopram","pmid":21107318,"phenotype_category":"Efficacy","significance":"yes","notes":"Be careful- GC SNP. The paper states that the minor allele was assoc with decreased odds for remission(in the original cohort), and from dbSNP freq/orientation of fastA compared to Golden path, I believe G on the + chr strand to be the minor allele. For the STAR*D study, remission was not found to be significantly associated; the significant association was with \"the binary phenotype \"response\"\".","sentence":"Allele G is associated with increased response to citalopram and escitalopram in people with Depressive Disorder, Major as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114766,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and virologic suppression in patients treated with lopinavir/ritonavir. Variant referred to in the paper as C3435T.","sentence":"Allele A is not associated with response to lopinavir or ritonavir in children with HIV Infections as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3505921","article_title":"Influence of Methylenetetrahydrofolate Reductase C677T, A1298C, and G80A Polymorphisms on the Survival of Pediatric Patients with Acute Lymphoblastic Leukemia","article_path":"articles/PMC3505921.md","variant_annotation_id":1451506260,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":23198157,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had better overall survival than patients with the AG or GG genotypes. Variant referred to in the paper as C677T. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype AA is associated with increased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472420,"variant_haplotypes":"rs17708472","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is not associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107100,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had a significantly greater decrease in heart rate than patients with the AG or GG genotypes. Note that this association was only significant in white patients.","sentence":"Genotype AA is associated with increased response to atenolol or metoprolol in people with Tachycardia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501734,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in the whole cohort, but not when looking at African American or Caucasian patient sub-cohorts. The C allele occured at a higher frequency in African Americans compared to Caucasians, and the authors suggest that this association may be due to differences in the racial groups (African Americans had a significantly lower clearance p=0.006 and longer half-life p=0.01 of the drug as compared with Caucasians).","sentence":"Genotype TT is associated with increased clearance of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC10091789","article_title":"Calcium\u2010channel blockers: Clinical outcome associations with reported pharmacogenetics variants in 32\u2009000 patients","article_path":"articles/PMC10091789.md","variant_annotation_id":1451895321,"variant_haplotypes":"rs10898815","gene":"NUMA1","drugs":"Dihydropyridine derivatives","pmid":36134646,"phenotype_category":"Other","significance":"yes","notes":"\"The association for AA was still significant after BenjaminiHochberg adjustment for multiple statistical testing (adjusted p=0.04).\"","sentence":"Genotypes AA + AG is associated with increased discontinuation of Dihydropyridine derivatives as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510940,"variant_haplotypes":"UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the objective response rate was seen between those with the *28 allele (54% responders) and those without one (79%).","sentence":"UGT1A1 *28 is not associated with response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755924,"variant_haplotypes":"rs4788184","gene":"LRP1","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6179259","article_title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","article_path":"articles/PMC6179259.md","variant_annotation_id":1449748084,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"rosuvastatin","pmid":30304062,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Statistically significant association only seen between genotype and change in c-HDL","sentence":"Genotype GG is associated with decreased response to rosuvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5057355","article_title":"Impact of cytochrome P450 2C19 polymorphisms on the pharmacokinetics of tacrolimus when coadministered with voriconazole","article_path":"articles/PMC5057355.md","variant_annotation_id":1447672688,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":26239045,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The maximum plasma concentration (Cmax) and area under the plasma concentration time curve from 0 to 12 hours (AUC0-12) was higher in intermediate metabolizers (*1/*2 n=2; *1/*3 n=4) as compared to extensive metabolizers (*1/*1 n=6).","sentence":"CYP2C19 *1/*2 + *1/*3 is associated with increased concentrations of voriconazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4892230","article_title":"CYP2B6*6 and CYP2B6*18 Predict Long-Term Efavirenz Exposure Measured in Hair Samples in HIV-Positive South African Women","article_path":"articles/PMC4892230.md","variant_annotation_id":1448994001,"variant_haplotypes":"CYP2B6*1, CYP2B6*18","gene":"CYP2B6","drugs":"efavirenz","pmid":26655325,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2B6 *18 is associated with increased concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*18","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699006,"variant_haplotypes":"rs498974","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681659,"variant_haplotypes":"rs2513265","gene":null,"drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In low severity schizophrenia patient subgroup","sentence":"Allele A is associated with increased response to antipsychotics in people with Schizophrenia as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184510970,"variant_haplotypes":"CYP2D6*4, CYP2D6*5","gene":"CYP2D6","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Pharmacokinetic model: gender and CYP2D6 metabolizer status explained 11% of the overall variability in donepezil clearance. Model-based simulations were also performed to compared predicted average plasma concentrations with a 10mg once daily dosage regimen suggesting a 43% increase in average plasma concentrations for poor metabolizers. Extensive metabolizers were grouped together (diplotypes *1/*3, *1/*4, *1/*5, *1/*6, *1/*1, *4/*1xN, *6/*1xN).","sentence":"CYP2D6 *4/*4 + *4/*5 (assigned as poor metabolizer phenotype) is associated with decreased clearance of donepezil in people with Alzheimer Disease.","alleles":"*4/*4 + *4/*5","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7455128","article_title":"Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action","article_path":"articles/PMC7455128.md","variant_annotation_id":1451357620,"variant_haplotypes":"rs6990851","gene":"CSMD1","drugs":"anastrozole","pmid":32701512,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele was significantly associated with a longer breast cancer free interval (BCFI) in MA.27 trial participants. Subsequent in vitro work provided functional validation by demonstrating that the G allele causes expression of CSMD1 to increase in the presence of anastrozole, which results in SMAD3 activation and increased expression of CYP19A1.","sentence":"Allele G is associated with increased response to anastrozole in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7319006","article_title":"Influence of SLCO1B1 polymorphisms on lopinavir C trough in Serbian HIV/AIDS patients","article_path":"articles/PMC7319006.md","variant_annotation_id":1451116362,"variant_haplotypes":"rs11045819","gene":"SLCO1B1","drugs":"lopinavir","pmid":32022294,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Although the A allele was initially found to be significantly associated with decreased trough concentrations of lopinavir, this significance was lost following multivariate regression analysis.","sentence":"Allele A is not associated with trough concentration of lopinavir in people with HIV Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7655626","article_title":"Pharmacogenetic Interactions of Rifapentine plus Isoniazid with Efavirenz or Nevirapine","article_path":"articles/PMC7655626.md","variant_annotation_id":1451308160,"variant_haplotypes":"CYP2B6 poor metabolizer","gene":"CYP2B6","drugs":"efavirenz","pmid":32815870,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP2B6 poor metabolizers had greater efavirenz concentrations at all weeks.","sentence":"CYP2B6 poor metabolizer is associated with increased concentrations of efavirenz in people with HIV Infections.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356781,"variant_haplotypes":"rs3774932","gene":"NFKB1","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5421731","article_title":"Candidate\u2010Gene Study of Functional Polymorphisms in SLCO1B1 and CYP3A4/5 and the Cholesterol\u2010Lowering Response to Simvastatin","article_path":"articles/PMC5421731.md","variant_annotation_id":1448624730,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin","pmid":28482130,"phenotype_category":"Efficacy","significance":"no","notes":"in African American.","sentence":"Allele C is not associated with response to simvastatin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359240,"variant_haplotypes":"rs10770141","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"Although an association was initially observed, it lost significance following Bonferroni correction.","sentence":"Allele G is not associated with response to heroin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811804,"variant_haplotypes":"rs648893","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. No significant association between this variant and any individual item or total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele G is not associated with response to ethanol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10349800","article_title":"Correlation of N-acetyltransferase 2 genotype and acetylation status with plasma isoniazid concentration and its metabolic ratio in ethiopian tuberculosis patients","article_path":"articles/PMC10349800.md","variant_annotation_id":1452191960,"variant_haplotypes":"NAT2*4, NAT2*6, NAT2*7, NAT2*14, NAT2*16","gene":"NAT2","drugs":"acetylisoniazid","pmid":37454203,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Originally annotated as NAT2 *5/*14 + *5/*5 + *5/*6 + *5/*7 + *6/*14 + *6/*6 + *6/*7 (assigned as slow acetylator phenotype) compared to NAT2 *4/*14 + *4/*5 + *4/*6 + *4/*7 (assigned as intermediate acetylator phenotype). \"A significant difference in acetyl-isoniazid concentration was observed between slow and intermediate (p\u2009<\u20090.001) and slow and fast (p\u2009=\u20090.001) acetylators.\" \"The frequency distribution of NAT2*4, *5, *6, *7, and *14 alleles in Ethiopian tuberculosis patients were 14.6%, 47.1%, 31.3%, 5.4%, and 1.7%, respectively. \" Based on the Methods section the alleles are determined the following each SNP: C___1204093_20 for NAT2*5 (c.341 T>C, rs1801280), C___1204091_10 for NAT2*6 (c.590G>A, rs1799930), C____572770_20 for NAT2*7 (c.857G>A, rs1799931), C____572770_20 for NAT2*14 (191G>A, rs1801279). Those are mapped for the annotation to *16, *6, *7, *14 as those are defined by the single SNPs.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. The alleles in this annotation are mapped as following: NAT2*14A under the *14 core allele; NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele.","sentence":"NAT2 *16/*14 + *16/*16 + *16/*6 + *16/*7 + *6/*14 + *6/*6 + *6/*7 (assigned as slow acetylator phenotype) is associated with decreased concentrations of acetylisoniazid in people with Tuberculosis as compared to NAT2 *4/*14 + *4/*16 + *4/*6 + *4/*7 (assigned as intermediate acetylator phenotype) .","alleles":"*16/*14 + *16/*16 + *16/*6 + *16/*7 + *6/*14 + *6/*6 + *6/*7","specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*4/*14 + *4/*16 + *4/*6 + *4/*7","comparison_metabolizer_types":"intermediate acetylator"} -{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695477,"variant_haplotypes":"rs11188072","gene":"CYP2C19","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis. Please note: alleles were complemented to the + chromosomal strand.","sentence":"Allele C is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114771,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and clearance of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as C3435T.","sentence":"Allele A is not associated with clearance of lopinavir or ritonavir in children with HIV Infections as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4343187","article_title":"CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy","article_path":"articles/PMC4343187.md","variant_annotation_id":1445402159,"variant_haplotypes":"rs2072660","gene":"CHRNB2","drugs":"varenicline","pmid":25774163,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes CT + TT are not associated with response to varenicline in people with Tobacco Use Disorder as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954077,"variant_haplotypes":"rs228642","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10747255","article_title":"CYP3A5*3 and CYP3A4*22 Cluster Polymorphism Effects on LCP-Tac Tacrolimus Exposure: Population Pharmacokinetic Approach","article_path":"articles/PMC10747255.md","variant_annotation_id":1452348210,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":38140040,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Statistically significant (p < 0.001) differences were found when comparing normalized by dose AUC values between CYP3A5 *1 expressers vs. non-expressers. Similarly, statistically significant (p < 0.001) differences were found when comparing C0 normalized by a dose of CYP3A5 *1 expressers vs. non-expressers.\"","sentence":"CYP3A5 *3/*3 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171069,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of methadone as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3834132","article_title":"CYP2B6 Pharmacogenetics\u2013Based In Vitro\u2013In Vivo Extrapolation of Efavirenz Clearance by Physiologically Based Pharmacokinetic Modeling","article_path":"articles/PMC3834132.md","variant_annotation_id":1184510497,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":23846872,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Following a 600-mg oral dose of efavirenz, no significant difference in oral clearance was seen between the two genotype groups. However, the authors suggest this is due to an inadequate number of subjects with the *6/*6 genotype (n=3). Those with the *6/*6 genotype had a 30% reduction in clearance and a 27% increase in area under the concentration-time curve from 0-infinity (AUC0-inf).","sentence":"CYP2B6 *1/*1 + *1/*6 is not associated with clearance of efavirenz in healthy individuals as compared to CYP2B6 *6/*6.","alleles":"*1/*1 + *1/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*6/*6","comparison_metabolizer_types":null} -{"pmcid":"PMC2668081","article_title":"Contribution of the activities of CYP3A, CYP2D6, CYP1A2 and other potential covariates to the disposition of methadone in patients undergoing methadone maintenance treatment","article_path":"articles/PMC2668081.md","variant_annotation_id":1451158020,"variant_haplotypes":"CYP2D6 poor metabolizer phenotype","gene":"CYP2D6","drugs":"methadone","pmid":19133059,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP2D6 phenotype, as assessed by dextromethorphan metabolism did not significantly contribute to variance in methadone trough plasma concentrations.","sentence":"CYP2D6 poor metabolizer is not associated with trough concentration of methadone as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC8455325","article_title":"AHR-dependent genes and response to MTX therapy in rheumatoid arthritis patients","article_path":"articles/PMC8455325.md","variant_annotation_id":1451799880,"variant_haplotypes":"rs2292596","gene":"AHRR","drugs":"methotrexate","pmid":34302046,"phenotype_category":"Efficacy","significance":"not stated","notes":"The authors state that there is an association, but the significance is unclear and requires further functional studies.","sentence":"Allele G is associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452014760,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared with the ref- erence group (CYP2C19*1/*1), a lower sertraline serum concentration was observed in CYP2C19*17/*17 (21.6% decrease, n = 44, p = 0.003), CYP2C:TG/CYP2C:TG (21.2% decrease, n = 26, p = 0.022), CYP2C19*17/ CYP2C:TG (20.0% decrease, n = 65, p = 0.003), and CYP2C19*1/*17 (17.0% decrease, n = 150, p < 0.001).","sentence":"CYP2C19 *1/*17 + *17/*17 are associated with decreased concentrations of sertraline as compared to CYP2C19 *1/*1.","alleles":"*1/*17 + *17/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5065384","article_title":"Efavirenz inhibits the human ether-a-go-go related current (hERG) and induces QT interval prolongation in CYP2B6*6*6 allele carriers","article_path":"articles/PMC5065384.md","variant_annotation_id":1448995845,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":27333947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2B6 *6/*6 is associated with increased concentrations of efavirenz in healthy individuals as compared to CYP2B6 *1/*1 + *1/*6.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*6","comparison_metabolizer_types":null} -{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184407399,"variant_haplotypes":"rs4253728","gene":"PPARA","drugs":"tacrolimus","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"no","notes":"A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Genotype AA is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4609097","article_title":"Ivacaftor in a young boy with the rare gating mutation S549R - use of lung clearance index to track progress: a case report","article_path":"articles/PMC4609097.md","variant_annotation_id":1449192465,"variant_haplotypes":"rs121909005","gene":"CFTR","drugs":"ivacaftor","pmid":26474553,"phenotype_category":"Efficacy","significance":"not stated","notes":"Case report of a pediatric cystic fibrosis patient (genotype S549R/1717-1G>A) being treated with ivacaftor. Improvements in body weight, cough frequency, sputum production, physical performance, sweat chloride level and FEV1 were reported following six weeks of treatment. Paper does not state if rs121908757 or rs121909005 is the causative variant of S549R.","sentence":"Allele G is associated with response to ivacaftor in children with Cystic Fibrosis.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995765,"variant_haplotypes":"rs10102851","gene":"ANGPT2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3988270","article_title":"Genetic variation in OPRD1 and the response to treatment for opioid dependence with buprenorphine in European American females","article_path":"articles/PMC3988270.md","variant_annotation_id":1184513720,"variant_haplotypes":"rs529520","gene":"OPRD1","drugs":"buprenorphine","pmid":24126707,"phenotype_category":"Efficacy","significance":"yes","notes":"Opioid dependence. Four cohorts were analyzed. The first three were women taking buprenorphine or methadone, women taking only buprenorphine and women taking only methadone, where opiod-positive urine drug screens or missing urine drug screens were both considered a \"positive\" drug screen. The fourth was women taking only buprenorphine were missing urine drug screens were coded as \"missing\" and not as \"positive\". No significant results were seen when considering women only taking methadone, but significant results were seen for all other cohorts: women with the AA genotype were more likely to have opioid-; \"positive\" urine drug screens, as compared to those with the CC genotype. Patients were treated with buprenorphine or methadone for 24 weeks.","sentence":"Genotype AA is associated with decreased response to buprenorphine in women with Opioid-Related Disorders as compared to genotype CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3682424","article_title":"A preliminary pharmacogenetic investigation of adverse events from topiramate in heavy drinkers","article_path":"articles/PMC3682424.md","variant_annotation_id":1184749261,"variant_haplotypes":"rs2832407","gene":"GRIK1","drugs":"topiramate","pmid":19331489,"phenotype_category":"Efficacy","significance":"yes","notes":"75.5% of participants met the criteria for an alcohol use disorder. At target dose (week 5 of treatment), carriers of the A allele reported a higher percentage of heavy drinking days (%HDD), as compared to those with the CC genotype (controlling for baseline %HDD).","sentence":"Genotypes AA + AC is associated with decreased response to topiramate in people with Alcohol-Related Disorders as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3985268","article_title":"Variation in P450 oxidoreductase (POR) A503V and flavin containing monooxygenase (FMO)-3 E158K is associated with minor alterations in nicotine metabolism but does not alter cigarette consumption","article_path":"articles/PMC3985268.md","variant_annotation_id":1183703319,"variant_haplotypes":"rs2266782","gene":"FMO3","drugs":"nicotine","pmid":24448396,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This was described as a trend towards higher nicotine AUC. Participants received 4 mg oral nicotine.","sentence":"Genotypes AA + AG is associated with decreased metabolism of nicotine in CYP2A6 reduced, but not normal, metabolizers as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in","population_phenotypes_or_diseases":"PK:CYP2A6 reduced, but not normal, metabolizers","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3984158","article_title":"Verification of Pharmacogenetics-Based Warfarin Dosing Algorithms in Han-Chinese Patients Undertaking Mechanic Heart Valve Replacement","article_path":"articles/PMC3984158.md","variant_annotation_id":1184169091,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":24728385,"phenotype_category":"Dosage","significance":"yes","notes":"The goal of this study was to compare the accuracy of 8 different warfarin dosing algorithms, including the IWPC, and 6 Han Chinese PGx warfarin dosing algorithms, in Han Chinese patients taking warfarin scheduled to undergo mechanic heart valve replacement surgery. The authors concluded that the mean absolute error (MAE) of all algorithms was less than 0.6mg/day in initial and stable doses, and the percentage of patients whose actual doses were within 20% of their predicted dose was 45% in all algorithms. Predictive power of algorithms was highest for patients in the ideal-dose range and lowest for patients in the low and high dose range.; The most accurate predictions came from three Han-Chinese PGx warfarin dosing algorithms (Du et al. 2010, Huang et al. 2009, Miao et al. 2007).","sentence":"Genotype AA is associated with decreased dose of warfarin in people with heart valve replacement as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2518836","article_title":"Epithelial Neutrophil-Activating Peptide (ENA-78), Acute Coronary Syndrome Prognosis, and Modulatory Effect of Statins","article_path":"articles/PMC2518836.md","variant_annotation_id":982028484,"variant_haplotypes":"rs352046","gene":"CXCL5","drugs":"hmg coa reductase inhibitors","pmid":18769620,"phenotype_category":"Efficacy","significance":"yes","notes":"Since this is a GC SNP, there is the possibility of stranding error. The CXCL5 gene is on the negative chromosomal strand, so I complemented the reported results, which are: GG patients on statins showed a significant, 58% relative risk reduction (p = 0.0009);GC patients on statins showed a non-significant 25% relative risk reduction(p = 0.48), and CC patients on statins showed a non-significant 39% relative risk INCREASE (p = 0.46).","sentence":"Genotype CC is associated with increased response to hmg coa reductase inhibitors in people with Acute coronary syndrome as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Acute coronary syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4800352","article_title":"Development and Comparison of Warfarin Dosing Algorithms in Stroke Patients","article_path":"articles/PMC4800352.md","variant_annotation_id":1448267948,"variant_haplotypes":"CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":26996562,"phenotype_category":"Dosage","significance":"not stated","notes":"This study undertook the development of a warfarin pharmacogenetic dosing algorithm and then compared it against other dosing algorithms. This variant was included in the algorithm. However, note that there was no significant difference in stable warfarin dose between patients with the *1/*1 genotype (3.8+/1.4 mg/day) and the *1/*3 genotype (2.6+/-0.5 mg/day); only 4 patients carried the *3 allele.","sentence":"CYP2C9 *3 is associated with dose of warfarin in people with Stroke.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574500,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"No CYP2D6 poor metabolizers (PMs) were available in this research.\" \"A higher t1/2 was observed in CYP2D6 intermediate metabolizers (IMs) compared to ultrarapid (UMs) and normal metabolizers (NMs) (puv = 0.028). Significance was transformed into a tendency after Bonferroni post hoc tests (NMs vs. IMs, puv = 0.074, UMs vs. IMs puv = 0.124 and NMs vs. UMs puv = 0.624). However, the t1/2 remained significantly higher in IMs compared to UMs and NMs merged in a unique group (UMs + NMs) (puv = 0.018). Differences in the t1/2 were accompanied by a not significantly lower AUC/DW and Cmax/DW in CYP2D6 UMs compared to NMs and IMs.\"","sentence":"CYP2D6 intermediate metabolizer is associated with increased half-life time of mirabegron in healthy individuals as compared to CYP2D6 normal metabolizer and ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and ultrarapid metabolizer"} -{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512540,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the CC, CT, TT genotypes of this SNP.","sentence":"Genotype CC is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7388522","article_title":"The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder","article_path":"articles/PMC7388522.md","variant_annotation_id":1452054740,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"sertraline","pmid":32723321,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"SLC6A4 HTTLPR short form (S allele) is associated with decreased response to sertraline in people with Panic Disorder as compared to SLC6A4 HTTLPR long form (L allele).","alleles":"HTTLPR short form (S allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Panic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR long form (L allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC11509751","article_title":"Bleeding Events Associated with Rivaroxaban Therapy in Naive Patients with Nonvalvular Atrial Fibrillation: A Longitudinal Study from a Genetic Perspective with INR Follow-Up","article_path":"articles/PMC11509751.md","variant_annotation_id":1452654550,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"rivaroxaban","pmid":39459499,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In our study, we found that for ABCB1-related rs4148738 and rs2032582, there was a statistically significant difference between the wild and mutant genotypes and a decrease in the CDR max values of rivaroxaban, while CDRss was statistically significant between the wild and homozygous mutant genotypes. For rs1045642 and rs1128503 of ABCB1, the decreased CDR max and Css levels of rivaroxaban were statistically significant between the wild (AA) and mutant (AG, GG) genotypes. Our findings suggest that polymorphism in the P-glycoprotein expressed by the ABCB1 gene can affect the peak plasma levels of rivaroxaban.\"","sentence":"Genotypes AG + GG is associated with decreased concentrations of rivaroxaban in people with Atrial Fibrillation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995964,"variant_haplotypes":"rs7234029","gene":"PTPN2","drugs":"adalimumab","pmid":28107378,"phenotype_category":"Efficacy","significance":"no","notes":"A significant association between rs7234029 and response to adalimumab as determined by EULAR score was seen at six months after beginning treatment however this significance was lost upon correction for multiple variables. No significant association was seen at two years after beginning treatment.; No significant associations were seen at either time point when response was measured as number of patients in remission or with low disease activity.","sentence":"Allele G is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4692529","article_title":"A Randomized Trial of Pharmacogenetic Warfarin Dosing in Na\u00efve Patients with Non-Valvular Atrial Fibrillation","article_path":"articles/PMC4692529.md","variant_annotation_id":1448276496,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":26710337,"phenotype_category":"Dosage","significance":"not stated","notes":"This study assessed whether a pharmacogenetic dosing algorithm, which included this variant as well as the CYP2C9*2, CYP2C9*3 and CYP4F2*3 variants, is superior in overall anticoagulation control when compared to clinical standard of care. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele T is associated with dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10349379","article_title":"Genetic Factors Associated with Morphine Consumption in Women Undergoing Laparoscopic Cholecystectomy: A Prospective Cohort Study","article_path":"articles/PMC10349379.md","variant_annotation_id":1452192660,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":37456358,"phenotype_category":"Dosage","significance":"yes","notes":"All patients were Arab women undergoing laparoscopic cholecystectomy. \"Both OPRM1 (rs1799971, A>G), and rs2952768 (T>C) showed statistically significant association with IO total morphine dose requirements. Patients carrying OPRM1 minor allele (GG) and (AG) genotypes had a significantly higher total morphine mean rank compared to the AA genotype [62.9 vs 47.1\"","sentence":"Genotypes AG + GG is associated with increased dose of morphine in women with Pain, Postoperative as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184755994,"variant_haplotypes":"rs896412","gene":"TMEM205","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele G is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7455128","article_title":"Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action","article_path":"articles/PMC7455128.md","variant_annotation_id":1451356971,"variant_haplotypes":"rs2449598","gene":"DLG2","drugs":"anastrozole","pmid":32701512,"phenotype_category":"Efficacy","significance":"yes","notes":"Response was measured by the decrease in estrogen levels over the course of treatment.","sentence":"Allele T is associated with decreased response to anastrozole in women with Breast Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862234,"variant_haplotypes":"rs2239393","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs740603, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele A is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2913479","article_title":"Association of Genetic Variation in Cystathionine-\u03b2-Synthase and Arsenic Metabolism","article_path":"articles/PMC2913479.md","variant_annotation_id":769165237,"variant_haplotypes":"rs4920037","gene":"CBS","drugs":"Arsenic compounds","pmid":20670920,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"measured as as excreted monomethylarsonic acid.","sentence":"Genotypes AA + AG are associated with increased metabolism of Arsenic compounds as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC8702453","article_title":"Comprehensive characterization of pharmacogenetic variants in TPMT and NUDT15 in children with acute lymphoblastic leukemia","article_path":"articles/PMC8702453.md","variant_annotation_id":1451722660,"variant_haplotypes":"rs12199316","gene":"TPMT","drugs":"mercaptopurine","pmid":34412101,"phenotype_category":"Dosage","significance":"yes","notes":"Since this is a C/G non-coding variant in gene on minus strand, confirmed with authors that the allele associated with increased dose is G as measured on plus chromosomal strand.","sentence":"Allele G is associated with increased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6426691","article_title":"Genome-wide association analysis of common genetic variants of resistant hypertension","article_path":"articles/PMC6426691.md","variant_annotation_id":1451100046,"variant_haplotypes":"rs324498","gene":"PTPRD","drugs":"Antihypertensives","pmid":30237584,"phenotype_category":"Efficacy","significance":"no","notes":"The G allele was associated with increased odds of a patient developing resistant-hypertension. Participants were classified as having resistant hypertension if their SBP was \u2265140 or DBP \u2265 90 using three or more medications, or if they were using four or greater antihypertensive medications regardless of BP. However, this SNP failed to reach genome-wide significance in either the INVEST or SPS3 cohorts or when both cohorts were combined. Additionally, this association could not be validated in an eMERGE dataset.","sentence":"Allele G is associated with decreased response to Antihypertensives in people with Hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6586010","article_title":"No Clinical Impact of CYP3A5 Gene Polymorphisms on the Pharmacokinetics and/or Efficacy of Maraviroc in Healthy Volunteers and HIV\u20101\u2013Infected Subjects","article_path":"articles/PMC6586010.md","variant_annotation_id":1450371799,"variant_haplotypes":"CYP3A5 poor metabolizers","gene":"CYP3A5","drugs":"maraviroc","pmid":30192390,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In study A4001110, black CYP3A5 poor metabolizers had a significant increase in average maraviroc plasma concentrations compared to black extensive metabolizers. The authors determined this difference in maraviroc concentrations to not be clinically significant.","sentence":"CYP3A5 poor metabolizer is associated with increased concentrations of maraviroc in people with HIV Infections as compared to CYP3A5 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373168,"variant_haplotypes":"rs6912029","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele G is not associated with response to methadone in people with Heroin Dependence as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163088,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5427048","article_title":"The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients","article_path":"articles/PMC5427048.md","variant_annotation_id":1448603925,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":28229376,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 *1/*1 + *1/*3 is associated with trough concentration of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC9301121","article_title":"CYP2A6 and GABRA2 Gene Polymorphisms are Associated With Dexmedetomidine Drug Response","article_path":"articles/PMC9301121.md","variant_annotation_id":1452141983,"variant_haplotypes":"rs28399433","gene":"CYP2A6","drugs":"dexmedetomidine","pmid":35873555,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Female patients aged 18\u201360 years undergoing laparoscopic with ASA I-II [ASA I: normal healthy patients; ASA II: patients with mild systemic disease\". \"Dexmedetomidine was continuous intravenous infused at 1 \u03bcg/kg for 10 min before the induction period of general anesthesia.\"\"harmacokinetic studies were performed on 99 participants, and pharmacodynamic studies were performed on all participants. All participants had 5 ml of peripheral blood sampled preoperatively for DNA isolation and genetic testing.\"","sentence":"Allele C is associated with decreased clearance of dexmedetomidine in women as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452569946,"variant_haplotypes":"rs1143634","gene":"IL1B","drugs":"aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5148898","article_title":"Genetic polymorphisms of patients on stable warfarin maintenance therapy in a Ghanaian population","article_path":"articles/PMC5148898.md","variant_annotation_id":1448602262,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":27938396,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Genotypes CT + TT is not associated with increased dose of warfarin in people with Atrial Fibrillation, Cardiomyopathies, heart valve replacement, Peripheral Vascular Diseases, Pulmonary Embolism and Venous Thrombosis as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Cardiomyopathies, Disease:Heart valve replacement, Disease:Peripheral Vascular Diseases, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10298263","article_title":"The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC","article_path":"articles/PMC10298263.md","variant_annotation_id":1452146180,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"dabigatran","pmid":37372371,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles complemented","sentence":"Allele T is not associated with decreased dose-adjusted trough concentrations of dabigatran in people with Atrial Fibrillation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5829963","article_title":"TCF7L2 Genetic Variation Augments Incretin Resistance and Influences Response to a Sulfonylurea and Metformin: The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH)","article_path":"articles/PMC5829963.md","variant_annotation_id":1451105880,"variant_haplotypes":"rs7903146","gene":"TCF7L2","drugs":"glipizide","pmid":29326107,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by shorter time and a steeper slope to trough glucose levels in people with risk factors for type 2 diabetes.","sentence":"Allele T is associated with increased response to glipizide as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550232,"variant_haplotypes":"rs39339","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele G is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6246957","article_title":"Fc\u2010gamma receptor polymorphisms, cetuximab therapy, and overall survival in the CCTG CO.20 trial of metastatic colorectal cancer","article_path":"articles/PMC6246957.md","variant_annotation_id":1449752269,"variant_haplotypes":"rs396991","gene":"FCGR3A","drugs":"cetuximab","pmid":30318772,"phenotype_category":"Efficacy","significance":"no","notes":"Overall survival and progression-free survival were used as indicators of response to cetuximab.","sentence":"Allele C is not associated with response to cetuximab in people with Colorectal Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5469860","article_title":"Association of Polymorphisms in Pharmacogenetic Candidate Genes with Propofol Susceptibility","article_path":"articles/PMC5469860.md","variant_annotation_id":1448639482,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"propofol","pmid":28611364,"phenotype_category":"Dosage","significance":"yes","notes":"Patients undergoing thyroid resection surgery. 46/146 of patients with the AA genotype had higher effect-site concentration (Cep) values for propofol (1.85\u00b10.96 \u00b5g/ml) versus the100/146 patients with the GA+GG genotypes (1.53\u00b10.76\u00b5g/ml). The AA genotype was also associated with longer onset times of propofol induction (3.12\u00b12.68min) versus the GA+GG genotypes (2.19\u00b11.53min). The G allele was also associated with less propofol and less time for propofol to induce anesthesia. Please note: the authors examined 58 SNPs but did not do multiple testing corrections.","sentence":"Genotype AA is associated with decreased dose of propofol as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3291838","article_title":"Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters","article_path":"articles/PMC3291838.md","variant_annotation_id":982046656,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"phenprocoumon","pmid":21110013,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"Patients with the CC genotype require significantly lower daily doses of phenprocoumon as compared to patients with the CT or TT genotype. While it seems that there may be a gene dose effect (TT>CT>CC), the paper did not specify whether or not this is the case. Daily dose is also negatively correlated with age. This study published an algorithm for daily dose that includes height, although height was not significant in univariate analysis. This SNP is not associated with differences in phenprocoumon concentration.","sentence":"Genotype CC is associated with decreased dose of phenprocoumon as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449156009,"variant_haplotypes":"rs16969968","gene":"CHRNA3, CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3264276","article_title":"Influence of NAT2 Polymorphisms on Sulfamethoxazole Pharmacokinetics in Renal Transplant Recipients","article_path":"articles/PMC3264276.md","variant_annotation_id":981477860,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"sulfamethoxazole","pmid":22106207,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2C9 *1/*3 and *1/*1 genotypes were compared, and no significant difference in plasma sulfamethoxazole AUC (0-24hr) was seen.","sentence":"Genotype AC is not associated with metabolism of sulfamethoxazole in people with Kidney Transplantation as compared to genotype AA.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC9256318","article_title":"Significance of CYP3A4\u22171G and OPRM1 A118G Polymorphisms in Postoperative Sufentanil Analgesia in Women of Different Ethnicities","article_path":"articles/PMC9256318.md","variant_annotation_id":1451838520,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"sufentanil","pmid":35799642,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in women with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5189722","article_title":"Effect of the Polymorphism of Folylpolyglutamate Synthetase on Treatment of High-Dose Methotrexate in Pediatric Patients with Acute Lymphocytic Leukemia","article_path":"articles/PMC5189722.md","variant_annotation_id":1451547383,"variant_haplotypes":"rs1544105","gene":"FPGS","drugs":"methotrexate","pmid":27987364,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. This association was only significant at the 24 hour timepoint.","sentence":"Genotype TT is associated with increased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4296254","article_title":"\u00b5-Opioid Receptor Gene (OPRM1) Polymorphism A118G: Lack of Association in Finnish Populations with Alcohol Dependence or Alcohol Consumption","article_path":"articles/PMC4296254.md","variant_annotation_id":1450820267,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":23729673,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and alcohol consumption.","sentence":"Allele G is not associated with dose of ethanol as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974100,"variant_haplotypes":"rs10814270","gene":"TLN1","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648640,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Analyzed as part of haplotypes with rs34059508, rs72552763 and rs34130495. There was a non-significant trend for patients carrying reduced function alleles to have increased exposure to morphine, but the change in exposure is not large enough to be of clinical importance.","sentence":"Allele T is not associated with exposure to morphine in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10883345","article_title":"Effect of the NFIB rs28379954 T>C polymorphism on CYP2D6\u2010catalyzed metabolism of solanidine","article_path":"articles/PMC10883345.md","variant_annotation_id":1452389540,"variant_haplotypes":"rs28379954","gene":"NFIB","drugs":"solanidine","pmid":38385986,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The present study shows that the NFIB C variant is significantly associated with increased CYP2D6 metabolism of solanidine. A significant effect on solanidine metabolism was only seen in CYP2D6 NMs, which is compatible with the findings that the NFIB C variant modulates CYP2D6 gene expression and activity, which cannot occur in CYP2D6 PMs.\" \"\"CYP2D6\u2010genotyped patients, who had performed routine pharmacogenetic testing and therapeutic drug monitoring (TDM) of psychiatric drug,... excluding co\u2010medicated with the CYP2D6 inhibitors bupropion, fluoxetine, paroxetine, or levomepromazine\"","sentence":"Genotypes CC + CT is associated with increased metabolism of solanidine as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5548439","article_title":"Genetic coding variants in the niacin receptor, hydroxyl-carboxylic acid receptor 2 (HCAR2), and response to niacin therapy","article_path":"articles/PMC5548439.md","variant_annotation_id":1448635810,"variant_haplotypes":"rs7314976","gene":"HCAR2","drugs":"niacin","pmid":28628560,"phenotype_category":"Efficacy","significance":"no","notes":"The study compared statin + placebo treated patients with statin + extended release niacin treated patients from the from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial. No association of this variant (p.M317I) with changes in low-density lipoprotein cholesterol, triglycerides, lipoprotein a or high-density lipoprotein cholesterol at 1 year were found.","sentence":"Genotypes AA + AG is not associated with response to niacin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144256,"variant_haplotypes":"rs7588746","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3658129","article_title":"Neurotrophic Tyrosine Kinase Receptor Type 2 (NTRK2) Gene Associated with Treatment Response to Mood Stabilizers in Patients with Bipolar I Disorder","article_path":"articles/PMC3658129.md","variant_annotation_id":981954223,"variant_haplotypes":"rs1565445","gene":"NTRK2","drugs":"lithium, valproic acid","pmid":23315174,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to lithium or valproic acid in people with Bipolar Disorder as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2683977","article_title":"Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin","article_path":"articles/PMC2683977.md","variant_annotation_id":827601694,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":18305455,"phenotype_category":"Dosage","significance":"yes","notes":"This variant was associated with a 28% reduction per allele (95% confidence interval 25-30%) in the therapeutic warfarin dose.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9080200","article_title":"Influence of cytochrome P450 and glutathione S transferase polymorphisms on response to nilotinib therapy among chronic myeloidleukemia patients from Pakistan","article_path":"articles/PMC9080200.md","variant_annotation_id":1451782460,"variant_haplotypes":"rs1048943","gene":"CYP1A1","drugs":"nilotinib","pmid":35527244,"phenotype_category":"Efficacy","significance":"yes","notes":"alleles complimented to plus chromosomal strand. Rs number from PharmVar, effects reported for CYP1A1*2C A>G. Excerpt \"wild type CYP1A1, GSTP1 and GSTM1 deletion was significantly frequent in responders. The partial responders carried heterozygous mutant genotypes of CYP1A1\"","sentence":"Genotypes CT + TT is associated with increased response to nilotinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3909010","article_title":"Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes","article_path":"articles/PMC3909010.md","variant_annotation_id":1183764170,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":24497997,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Apparent clearance was 2.2 fold higher for CYP2B6 *1/*1 compared to CYP2B6 *6/*6 (p-value is not stated). The reported p-value are for differences in mean AUC between *6/*6 + rs3842 CC versus *1/*1 +rs3842 TT and between *6/*6 + rs3842 CC versus *6/*6 + rs3842 CT.","sentence":"CYP2B6 *1/*1 is associated with increased metabolism of efavirenz in people with HIV as compared to CYP2B6 *6/*6.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*6/*6","comparison_metabolizer_types":null} -{"pmcid":"PMC7039325","article_title":"A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients","article_path":"articles/PMC7039325.md","variant_annotation_id":1451133752,"variant_haplotypes":"CYP2C19 intermediate metabolizer","gene":"CYP2C19","drugs":"morphine, nortriptyline","pmid":31738228,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in improvement in pain scores between metabolizer groups.","sentence":"CYP2C19 intermediate metabolizer is not associated with response to morphine and nortriptyline in people with Pain as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359566,"variant_haplotypes":"rs10770141","gene":"TH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3805522","article_title":"Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines","article_path":"articles/PMC3805522.md","variant_annotation_id":1448124443,"variant_haplotypes":"rs56038477","gene":"DPYD","drugs":"capecitabine, fluorouracil","pmid":24167597,"phenotype_category":"Dosage","significance":"yes","notes":"Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. \"Dose\" here refers to dose modification. Note: the reported parameters for this SNP are really for what the authors refer to as a \"DPYD signature\" that includes any minor alleles for the following SNPs in DPYD: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T).","sentence":"Genotype CT is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3248259","article_title":"Pharmacokinetics and pharmacodynamics following maintenance doses of prasugrel and clopidogrel in Chinese carriers of CYP2C19 variants","article_path":"articles/PMC3248259.md","variant_annotation_id":1450664704,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"prasugrel","pmid":21689142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2C19 *2/*3 is not associated with area under the plasma concentration-time curve and Cmax when exposed to prasugrel in healthy individuals as compared to CYP2C19 *1/*1. IMs and NMs had similar Pras-AM concentration time profiles, but PMs had lower Pras-AM concentrations than did IMs or NMs (no statistics),difference between PMs and NMs was 13% (90% CI 0%, 25%).; Note: P values were NOT provided in the study. Authors chose to report of confidence interval cut-off of 90%, (not classical cut-off of 95%). One outlier subject was removed from analysis.","sentence":"CYP2C19 *2/*2 + *2/*3 are not associated with metabolism of prasugrel in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170881,"variant_haplotypes":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C9","drugs":"4-hydroxytamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes are associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448495665,"variant_haplotypes":"CYP1A1*1, CYP1A1*2A","gene":"CYP1A1","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes.","sentence":"CYP1A1 *1/*2A + *2A/*2A are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to CYP1A1 *1/*1.","alleles":"*1/*2A + *2A/*2A","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC1767618","article_title":"DD ACE gene polymorphism is associated with increased coronary artery endothelial dysfunction: the PREFACE trial","article_path":"articles/PMC1767618.md","variant_annotation_id":982036636,"variant_haplotypes":"rs1799752","gene":"ACE","drugs":"pravastatin","pmid":12695469,"phenotype_category":"Efficacy","significance":"yes","notes":"Described as DD vs II/ID. The DD genotype was associated with significantly deteriorated endothelial function in dilated and normal coronary segments. Pravastatin had a beneficial effect in patients with the DD genotype.","sentence":"Genotype del/del is associated with response to pravastatin in people with non-hypercholesterolaemic patients scheduled for angioplasty as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del.","alleles":"del/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:non-hypercholesterolaemic patients scheduled for angioplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161820,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in concentrations of (R)-, (S)- or (R,S)-methadone between genotypes. No details about which specific variants/alleles were tested for. Variant referred to as C3435T. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with concentrations of methadone in people with Opioid-Related Disorders as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7388522","article_title":"The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder","article_path":"articles/PMC7388522.md","variant_annotation_id":1452043320,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"sertraline","pmid":32723321,"phenotype_category":"Efficacy","significance":"no","notes":"rs6313 was not associated with significant differences in response (PDSS) in patients receiving sertraline.","sentence":"Allele A is not associated with response to sertraline in people with Panic Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Panic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4969350","article_title":"A candidate gene investigation of methylphenidate response in adult attention-deficit/hyperactivity disorder patients: results from a naturalistic study","article_path":"articles/PMC4969350.md","variant_annotation_id":1447983413,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":27091191,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was significant in initial analysis, but not affirmed in meta-analysis or after correction for multiple testing. This study was conducted in adult patients with ADHD, with treatment success measured by questionnaires filled out by treating physicians. This SNP was the only one of 20 found to be significant in any stage of analysis.","sentence":"Allele G is associated with decreased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896063,"variant_haplotypes":"rs1466882","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038105,"variant_haplotypes":"rs670","gene":"APOA1","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5346037","article_title":"Genome-Wide Analysis of Clopidogrel Active Metabolite Levels Identifies Novel Variants that Influence Antiplatelet Response","article_path":"articles/PMC5346037.md","variant_annotation_id":1448602490,"variant_haplotypes":"rs187941554","gene":"RAD18","drugs":"clopidogrel thiol metabolite H4","pmid":28207573,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In this GWAS, the variant was significantly associated with active metabolite concentration but the association did not remain after adjusting for CYP2C19*2 SNV and correction for multiple testing.","sentence":"Allele A is associated with concentrations of clopidogrel thiol metabolite H4 in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10091789","article_title":"Calcium\u2010channel blockers: Clinical outcome associations with reported pharmacogenetics variants in 32\u2009000 patients","article_path":"articles/PMC10091789.md","variant_annotation_id":1451895360,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"Dihydropyridine derivatives","pmid":36134646,"phenotype_category":"Other","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased discontinuation of Dihydropyridine derivatives as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930485,"variant_haplotypes":"rs7184292","gene":null,"drugs":"atenolol","pmid":29650764,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with an increased systolic blood pressure response to atenolol.","sentence":"Allele A is associated with increased response to atenolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1873971","article_title":"Pharmacokinetics and effect on caffeine metabolism of the proton pump inhibitors, omeprazole, lansoprazole, and pantoprazole","article_path":"articles/PMC1873971.md","variant_annotation_id":1450807240,"variant_haplotypes":"CYP2C19 poor metabolizers","gene":"CYP2C19","drugs":"lansoprazole, omeprazole, pantoprazole","pmid":9578184,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"12 extensive metabolizers and 2 poor metabolizers. Poor metabolizers receiving omeprazole had a mean AUC 5.4X higher, and a mean t1/2 2.5X longer, as compared to extensive metabolizers. For lansoprazole, these values were 5.9X and 3.5X. For pantoprazole, they were 6.5X and 5X.","sentence":"CYP2C19 poor metabolizer is associated with decreased metabolism of lansoprazole, omeprazole or pantoprazole in healthy individuals as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC6086578","article_title":"PHARMACOGENETIC EFFECTS OF NALTREXONE IN INDIVIDUALS OF EAST ASIAN DESCENT: HUMAN LABORATORY FINDINGS FROM A RANDOMIZED TRIAL","article_path":"articles/PMC6086578.md","variant_annotation_id":1450928686,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":29265379,"phenotype_category":"Other","significance":"yes","notes":"Subjects carrying the G allele consumed significantly fewer drinks in an alcohol self-administration session than subjects with the AA genotype.","sentence":"Genotypes AG + GG are associated with decreased dose of ethanol as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5904201","article_title":"Influence of APOA5 Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects","article_path":"articles/PMC5904201.md","variant_annotation_id":1449311028,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"rosuvastatin","pmid":29695967,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were randomized to receive one of three dose-adjusted statins (N = 65 rosuvastatin, N= 65 atorvastatin, N= 65 simvastatin) and cholesterol (HDL, LDL), triglycerides and free-fatty acids (FFA) were compared between groups before and after statin treatment. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with increased response to rosuvastatin in people with Dyslipidaemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Dyslipidaemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2722908","article_title":"Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data","article_path":"articles/PMC2722908.md","variant_annotation_id":637880249,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":19228618,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4615595","article_title":"Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response","article_path":"articles/PMC4615595.md","variant_annotation_id":982044407,"variant_haplotypes":"rs3091244","gene":"CRP","drugs":"fenofibrate","pmid":18285551,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG, GA and GT genotypes had a greater reduction in C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, as compared to those with the AA and AT genotypes. In strong linkage disequilibrium with rs1205 and rs1417938 (r2 = 0.4 - 0.9, p < 0.001) and rs3093059 (r2 = 0.935, p < 0.001).","sentence":"Genotypes AG + GG are associated with increased response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AA + AT.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metabolic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} -{"pmcid":"PMC11584383","article_title":"Plasma concentrations of venetoclax and Pharmacogenetics correlated with drug efficacy in treatment naive leukemia patients: a retrospective study","article_path":"articles/PMC11584383.md","variant_annotation_id":1452714340,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"venetoclax","pmid":39578425,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"The GG genotypes of CYP3A5 rs776746 revealed higher C0/D and C6/D than the AA\u2009+\u2009AG genotype in patients treated with VA regimen (Fig. 3A, B), with statistically significant differences (p\u2009=\u20090.019 and p\u2009=\u20090.032).\" However this was not significantly associated with response even though concentration was itself associated with response.","sentence":"Genotype CC is associated with increased dose-adjusted trough concentrations of venetoclax in people with Leukemia, Myeloid, Acute as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4221105","article_title":"Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC4221105.md","variant_annotation_id":1185002399,"variant_haplotypes":"rs3772809","gene":"UMPS","drugs":"capecitabine, fluorouracil","pmid":25372392,"phenotype_category":"Efficacy","significance":"no","notes":"pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. 36 SNPs were initially significantly associated with drug response but only 3 remained significant in the validation cohort (before Bonferroni correction): rs2291078 A, rs3772809 G, rs3772810 G. All three SNPs were in perfect LD, and were initially associated with the non-responder phenotype, but the association did not remain significant after Bonferroni correction.","sentence":"Allele G is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164047,"variant_haplotypes":"CYP2C9 normal metabolizers","gene":"CYP2C9","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"yes","notes":"Mean dose (in mg) of warfarin according to metabolizer phenotype was: EM>IM>PM. Metabolizer phenotype was based on presence of CYP2C9*2 and *3. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"CYP2C9 normal metabolizer is associated with increased dose of warfarin as compared to CYP2C9 intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer and poor metabolizer"} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715552,"variant_haplotypes":"rs4587017","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826727,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"yes","notes":"Subgroup analysis of schizophrenia patients only found that those carrying the G allele smoked more cigarettes per day than those with the AA genotype.","sentence":"Genotypes AG + GG are associated with increased exposure to nicotine in people with Schizophrenia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3055694","article_title":"Genome-Wide Pharmacogenomic Study of Neurocognition As an Indicator of Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC3055694.md","variant_annotation_id":981502120,"variant_haplotypes":"rs11677416","gene":"IL1A","drugs":"olanzapine","pmid":21107309,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Adjacent SNPs also showed evidence for association. Associated allele is reported as the minor allele being associated with greater response. dbSNP shows C to be the minor allele in all populations reported upon. GWAS p = 6.6 x 10 (-7) for 492K SNPs, so Bonferroni-corrected p is 0.32 .","sentence":"Allele C is associated with increased response to olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4702321","article_title":"Effect of ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation: patient-reported outcomes in the STRIVE randomized, controlled trial","article_path":"articles/PMC4702321.md","variant_annotation_id":1449192481,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":26135562,"phenotype_category":"Efficacy","significance":"yes","notes":"G551D allele. Analysis of CFQ-R scores from participants in the STRIVE trial. Scores for eating problems, health perceptions, physical functioning, respiratory symptoms, social functioning, treatment burden and vitality showed significant improvements following ivacaftor treatment.","sentence":"Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815079,"variant_haplotypes":"rs785423","gene":"TJP1","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of A alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs711355 and rs813676.","sentence":"Allele A is associated with increased response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491203,"variant_haplotypes":"rs2270927","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype CC is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4025175","article_title":"The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients","article_path":"articles/PMC4025175.md","variant_annotation_id":1184470313,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":24658827,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are \"steady-state dose-adjusted concentration\" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.","sentence":"Genotype CC is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639185,"variant_haplotypes":"rs2284220","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele G is associated with decreased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3632552","article_title":"The KCNH2 Genetic Polymorphism (1956, C>T) Is a Novel Biomarker That Is Associated with CCB and \u03b1,\u03b2-ADR Blocker Response in EH Patients in China","article_path":"articles/PMC3632552.md","variant_annotation_id":982009313,"variant_haplotypes":"rs1137617","gene":"KCNH2","drugs":"candesartan, imidapril, irbesartan","pmid":23613831,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Genotype GG is not associated with response to candesartan, imidapril or irbesartan in people with Essential hypertension as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3734060","article_title":"Association between Genetic Polymorphisms in Cav2.3 (R-type) Ca2+ Channels and Fentanyl Sensitivity in Patients Undergoing Painful Cosmetic Surgery","article_path":"articles/PMC3734060.md","variant_annotation_id":1450820493,"variant_haplotypes":"rs3845446","gene":"CACNA1E","drugs":"fentanyl","pmid":23940630,"phenotype_category":"Dosage","significance":"yes","notes":"Subjects carrying the C allele required significantly less intrapoperative and perioperative fentanyl than those not carrying the C allele. However, there was no significant difference in analgesic response to fentanyl between the genotype groups. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CC + CT are associated with decreased dose of fentanyl in people with Pain, Postoperative as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922851,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"paclitaxel","pmid":22527101,"phenotype_category":"Efficacy","significance":"no","notes":"Response = complete clinical response (cCR). Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel.","sentence":"Genotypes AA + AG are not associated with increased response to paclitaxel in women with Breast Neoplasms as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6714829","article_title":"Associations of the SLCO1B1 Polymorphisms With Hepatic Function, Baseline Lipid Levels, and Lipid-lowering Response to Simvastatin in Patients With Hyperlipidemia","article_path":"articles/PMC6714829.md","variant_annotation_id":1451227020,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"simvastatin","pmid":30336686,"phenotype_category":"Efficacy","significance":"no","notes":"Patients carrying 388G allele alone is not significantly associated with greater TC and LDL-C reduction in response to simvastatin after 4 weeks of treatment. no significant associations were found between the 521T>C and 388A>G polymorphisms and the lipid-lowering effects of simvastatin treatment after 8 weeks.","sentence":"Genotypes AG + GG are not associated with increased response to simvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2751283","article_title":"CYP2D6 Genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting","article_path":"articles/PMC2751283.md","variant_annotation_id":1183629554,"variant_haplotypes":"CYP2D6*3, CYP2D6*5","gene":"CYP2D6","drugs":"debrisoquine, dextromethorphan","pmid":11741249,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Out of 558 subjects previously phenotyped for clinical studies and genotyped for this study, 46 PM were found. 3 of these 46 were *3/*5.","sentence":"CYP2D6 *3/*5 is associated with decreased metabolism of debrisoquine or dextromethorphan.","alleles":"*3/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451727920,"variant_haplotypes":"rs2074900","gene":"CYP4F2","drugs":"ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased clearance of ticagrelor in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5795999","article_title":"Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population","article_path":"articles/PMC5795999.md","variant_annotation_id":1452362343,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"hmg coa reductase inhibitors","pmid":29295555,"phenotype_category":"Efficacy","significance":"no","notes":"With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.","sentence":"Genotypes AG + GG are not associated with response to hmg coa reductase inhibitors as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3984158","article_title":"Verification of Pharmacogenetics-Based Warfarin Dosing Algorithms in Han-Chinese Patients Undertaking Mechanic Heart Valve Replacement","article_path":"articles/PMC3984158.md","variant_annotation_id":1184169096,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":24728385,"phenotype_category":"Dosage","significance":"yes","notes":"The goal of this study was to compare the accuracy of 8 different warfarin dosing algorithms, including the IWPC, and 6 Han Chinese PGx warfarin dosing algorithms, in Han Chinese patients taking warfarin scheduled to undergo mechanic heart valve replacement surgery. The authors concluded that the mean absolute error (MAE) of all algorithms was less than 0.6mg/day in initial and stable doses, and the percentage of patients whose actual doses were within 20% of their predicted dose was 45% for all algorithms. Predictive power of algorithms was highest for patients in the ideal-dose range and lowest for patients in the low and high dose range.; The most accurate predictions came from three Han-Chinese PGx warfarin dosing algorithms (Du et al. 2010, Huang et al. 2009, Miao et al. 2007).","sentence":"Genotype AA is associated with increased dose of warfarin in people with Heart Valve Diseases as compared to genotype AC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} -{"pmcid":"PMC8426351","article_title":"Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans","article_path":"articles/PMC8426351.md","variant_annotation_id":1451503700,"variant_haplotypes":"rs909530","gene":"FMO3","drugs":"teneligliptin","pmid":34512362,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. Significant for clearance, Cmax, and AUC.","sentence":"Genotypes CT + TT is associated with decreased clearance of teneligliptin in men as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4470685","article_title":"Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma","article_path":"articles/PMC4470685.md","variant_annotation_id":1444929615,"variant_haplotypes":"rs7794356","gene":"GALNT17","drugs":"montelukast","pmid":26083242,"phenotype_category":"Efficacy","significance":"no","notes":"This allele showed a trend toward association but not at the genome wide significance level. Study Cohort: Discovery cohort (N=133): American Lung Association Asthma Clinical Research Center (ALA-ACRC)-supported trials, the Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol Trial (LOCCS) and Effectiveness of Low Dose Theophylline as Add On Therapy for the Treatment of Asthma (LODO) trials. Replication cohort (N=184): Childhood Asthma Research and Education (CARE) Network- Characterizing the Response to a LT Receptor Antagonist and an Inhaled Corticosteroid and Pediatric Asthma Controller Trial (CLIC and PACT).","sentence":"Allele A is associated with increased response to montelukast in people with Asthma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6071997","article_title":"Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)","article_path":"articles/PMC6071997.md","variant_annotation_id":1449713612,"variant_haplotypes":"rs2229046","gene":"ERBB3","drugs":"carboplatin, docetaxel, trastuzumab","pmid":30071039,"phenotype_category":"Efficacy","significance":"yes","notes":"When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival.","sentence":"Allele C is associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820506,"variant_haplotypes":"rs10052999","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considering DONOR genotype - those with the CC or TT genotype had decreased concentration/dose ratios as compared to those with the CT genotype at weeks 2-4 of treatment. No significant difference was seen at week 1. In multiple linear regression analysis, donor rs10052999 genotype was significantly associated with concentration/dose ratio at week 4 (p=0.001) of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotypes CC + TT are associated with decreased dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype CT.","alleles":"CC + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981741019,"variant_haplotypes":"rs292449","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":"Minor allele in the Black patients is opposite to minor allele in Whites.","sentence":"Allele C is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3066089","article_title":"Pharmacodynamics of PEG-IFN alpha-2a and HCV response as a function of IL28B polymorphism in HIV/HCV co-infected patients","article_path":"articles/PMC3066089.md","variant_annotation_id":981483535,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, ribavirin","pmid":21157362,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were co-infected with HIV. p listed is for RVR.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4752391","article_title":"PHARMACOGENOMIC GENOME-WIDE META-ANALYSIS OF BLOOD PRESSURE RESPONSE TO BETA-BLOCKERS IN HYPERTENSIVE AFRICAN AMERICANS","article_path":"articles/PMC4752391.md","variant_annotation_id":1447676797,"variant_haplotypes":"rs11313667","gene":"LRRC15","drugs":"atenolol, hydrochlorothiazide, metoprolol","pmid":26729753,"phenotype_category":"Efficacy","significance":"yes","notes":"Study in African Americans","sentence":"Allele del is associated with increased response to atenolol, hydrochlorothiazide or metoprolol in people with Hypertension as compared to allele C.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928162,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7351433","article_title":"Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC7351433.md","variant_annotation_id":1451553370,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methotrexate","pmid":32695297,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Patients with the AA genotype did not have significantly different methotrexate plasma levels compared to those with the GG genotype.","sentence":"Genotype AG is associated with increased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5189722","article_title":"Effect of the Polymorphism of Folylpolyglutamate Synthetase on Treatment of High-Dose Methotrexate in Pediatric Patients with Acute Lymphocytic Leukemia","article_path":"articles/PMC5189722.md","variant_annotation_id":1451547391,"variant_haplotypes":"rs1544105","gene":"FPGS","drugs":"methotrexate","pmid":27987364,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had an increased survival time compared to the other genotypes. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype TT is associated with increased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710925,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"4-hydroxytamoxifen, endoxifen, N-desmethyltamoxifen, tamoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood.","sentence":"CYP2C19 *2 + *3 + *17 is not associated with concentrations of 4-hydroxytamoxifen, endoxifen, n-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP2C19 *1.","alleles":"*2 + *3 + *17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3476140","article_title":"Association study between clinical response to rizatriptan and some candidate genes","article_path":"articles/PMC3476140.md","variant_annotation_id":1452551152,"variant_haplotypes":"rs6296","gene":"HTR1B","drugs":"rizatriptan","pmid":17563839,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in allele frequency between responders and non-responders to rizatriptan. Variant referred to in the paper as 5-HT1D-beta and mapped to rs6296 by PharmGKB.","sentence":"Allele G is not associated with response to rizatriptan in people with Migraine without Aura as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566652,"variant_haplotypes":"rs931635","gene":"ADH1A","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele A is associated with metabolism of ethanol.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6400024","article_title":"Effect of Multidrug-Resistant 1 (MDR1) and CYP3A4*1B Polymorphisms on Cyclosporine-Based Immunosuppressive Therapy in Renal Transplant Patients","article_path":"articles/PMC6400024.md","variant_annotation_id":1451436960,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"cyclosporine","pmid":30799432,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Patients with the *1/*1 genotype had higher average blood concentrations of cyclosporine A than patients with the *1/*1B genotype. However, this was not a significant association. rs number is given but not which allele corresponded to *1B, mapping *1B as C and *1 as T. PharmVAR now considers *1B as the core allele CYP3A4*1.001","sentence":"Allele T is associated with increased concentrations of cyclosporine in people with Kidney Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680150,"variant_haplotypes":"rs74973995","gene":null,"drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype AG is associated with increased response to salbutamol in children with Asthma as compared to genotype AA.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6049926","article_title":"No association between IFNL3 (IL28B) genotype and response to peginterferon alfa-2a in HBeAg-positive or -negative chronic hepatitis B","article_path":"articles/PMC6049926.md","variant_annotation_id":1449713195,"variant_haplotypes":"rs8099917","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a","pmid":30016335,"phenotype_category":"Efficacy","significance":"no","notes":"The authors found no association between IFNL3 genotype and peginterferon 2a response in either HBeAg-positive or HBeAg-negative chronic hepatitis B patients, in both Asian and White patients.","sentence":"Genotype TT is not associated with response to peginterferon alfa-2a in people with Hepatitis B, Chronic as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis B, Chronic","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3006662","article_title":"Diversity of Opioid Requirements for Postoperative Pain Control Following Oral Surgery\u2014Is It Affected by Polymorphism of the \u03bc-Opioid Receptor?","article_path":"articles/PMC3006662.md","variant_annotation_id":1449713783,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"fentanyl","pmid":21174568,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"Patients with the GG genotype required almost twice as much fentanyl in the first 24 hours following surgery than patients with the AA genotype.","sentence":"Genotype GG is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3574284","article_title":"Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia","article_path":"articles/PMC3574284.md","variant_annotation_id":1444698070,"variant_haplotypes":"rs118192161","gene":"RYR1","drugs":"halothane","pmid":23159934,"phenotype_category":"Other","significance":"yes","notes":"Wild-type (WT) or mice with a knock in of the malignant hyperthermia causative variant (Arg163Cys; c.487C>T) were exposed to 1.5% halothane. Mice with the Arg163Cys variant had much greater elevations in calcium and sodium in \"vastus lateralis\" muscle when exposed to halothane in vivo as compared to the WT mice.","sentence":"Allele T is associated with increased response to halothane as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2743299","article_title":"GENE AND GENE BY SEX ASSOCIATIONS WITH INITIAL SENSITIVITY TO NICOTINE IN NONSMOKERS","article_path":"articles/PMC2743299.md","variant_annotation_id":1450812282,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":18690117,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and nicotine reward, perception, mood or reinforcement or physiological responses to nicotine.","sentence":"Allele G is not associated with response to nicotine in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6927671","article_title":"Common polymorphisms of CYP2B6 influence stereoselective bupropion disposition","article_path":"articles/PMC6927671.md","variant_annotation_id":1449564017,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"bupropion","pmid":29756345,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of CYP2B6*6/*6 had lower hydroxylation of both bupropion enantiomers, assessed by plasma hydroxybupropion/bupropion AUC ratios and urine hydroxybupropion formation clearances. Carriers of CYP2B6*1/*6 did not differ statistically as compared to *1/*1.","sentence":"CYP2B6 *6/*6 is associated with decreased metabolism of bupropion in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11269678","article_title":"HLA-DQA1*05 correlates with increased risk of anti-drug antibody development and reduced response to infliximab in Chinese patients with Crohn\u2019s disease","article_path":"articles/PMC11269678.md","variant_annotation_id":1452542840,"variant_haplotypes":"HLA-DQA1*05","gene":"HLA-DQA1","drugs":"infliximab","pmid":39055374,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Furthermore, HLA-DQA1*05 G carriage was significantly associated with an elevated risk of loss response to IFX treatment (adjusted HR\u2009=\u20092.55, 95% CI 1.78\u20133.68, P\u2009<\u20090.001; Figure 3B and Supplementary Table 2).\" Authors describe locus as HLADQ A1*05A>G (rs2097432)","sentence":"HLA-DQA1 *05 is associated with decreased response to infliximab in people with Crohn Disease.","alleles":"*05","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Crohn Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4525256","article_title":"Leveraging an Electronic Health Record-Linked Biorepository to Generate a Metformin Pharmacogenomics Hypothesis","article_path":"articles/PMC4525256.md","variant_annotation_id":1446903431,"variant_haplotypes":"rs7541245","gene":"FMO5","drugs":"metformin","pmid":26306225,"phenotype_category":"Efficacy","significance":"yes","notes":"EHR-linked and EHR-based phenotyping methods were used to study common variants within FMO5. Efficacy was assessed by A1c levels extracted from EHR records.","sentence":"Allele A is associated with decreased response to metformin in people with Diabetes Mellitus as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4867099","article_title":"Pharmacogenetics of unboosted atazanavir in HIV-infected individuals in resource-limited settings: a sub-study of the AIDS Clinical Trials Group (ACTG) PEARLS study (NWCS 342)","article_path":"articles/PMC4867099.md","variant_annotation_id":1447947668,"variant_haplotypes":"rs2472677","gene":"NR1I2","drugs":"atazanavir","pmid":26892777,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Looked at CL/F, concentration at 24 hours, and ratios of metabolites M1 and M2 to atazanavir. Only concentration 24 hours post-dose was significantly lower in subjects with the CT genotype as compared to the CC or TT genotypes.","sentence":"Genotype CT (assigned as deficiency phenotype) is associated with decreased concentrations of atazanavir in people with HIV Infections as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":"deficiency","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501851,"variant_haplotypes":"rs7643645","gene":"NR1I2","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in the whole cohort. As measured by a higher carbamazepine-10-11 epoxide: carbamazepine ratio.","sentence":"Allele G is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5899062","article_title":"TSPYL Family Regulates CYP17A1 and CYP3A4 Expression: Potential Mechanism Contributing to Abiraterone Response in Metastatic Castration\u2010Resistant Prostate Cancer","article_path":"articles/PMC5899062.md","variant_annotation_id":1449576962,"variant_haplotypes":"rs3828743","gene":"TSPYL1","drugs":"abiraterone, prednisolone","pmid":29027195,"phenotype_category":"Efficacy","significance":"yes","notes":"in a prospective clinical trial of 87 metastatic castration-resistant prostate cancer patients treated with abiraterone acetate/prednisone. The variant allele (A) was more frequently presented in nonresponders (P=0.013), with an odds ratio of 2.47 (1.23, 4.96). This variant abolishes TSPYL1's ability to suppress CYP3A4 expression, resulting in reduced abiraterone concentrations and increased cell proliferation in vitro.","sentence":"Allele A is associated with decreased response to abiraterone and prednisolone in people with Prostatic Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510952,"variant_haplotypes":"UGT1A7*3","gene":"UGT1A7","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the objective response rate was seen between those with the *3 allele (82% responders) and those without one (63%).","sentence":"UGT1A7 *3 is not associated with response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10495004","article_title":"Population pharmacokinetics of voriconazole and the role of CYP2C19 genotype on treatment optimization in pediatric patients","article_path":"articles/PMC10495004.md","variant_annotation_id":1452237981,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":37695751,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The VRC trough concentrations of NMs were lower than in IMs (P = 0.001) and PMs (P = 0.001). In addition, 43.4%, 58.7% and 60.9% of VRC trough concentrations were within the target range in NMs, IMs and PMs, respectively. Furthermore, 53.0%, 34.6% and 26.1% of VRC trough concentrations were subtherapeutic in NMs, IMs and PMs, respectively.\" \"The VRC trough concentrations of NMs were lower than in IMs (P = 0.001) and PMs (P = 0.001). In addition, 43.4%, 58.7% and 60.9% of VRC trough concentrations were within the target range in NMs, IMs and PMs, respectively. Furthermore, 53.0%, 34.6% and 26.1% of VRC trough concentrations were subtherapeutic in NMs, IMs and PMs, respectively.\"","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3 (assigned as intermediate metabolizer and poor metabolizer phenotype) is associated with increased dose-adjusted trough concentrations of voriconazole in children with Leukemia as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3352974","article_title":"CYP2A6 genetic variation and dexmedetomidine disposition","article_path":"articles/PMC3352974.md","variant_annotation_id":981344990,"variant_haplotypes":"CYP2A6*1, CYP2A6*4, CYP2A6*9","gene":"CYP2A6","drugs":"dexmedetomidine","pmid":22271297,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Comparison was between 33 normal metabolizers (*1/*1), 5 intermediate metabolizers (*1/*9), and 2 slow metabolizers (one *1/*4 and one *9/*9).","sentence":"CYP2A6 *1/*4 + *1/*4 + *9/*9 are not associated with clearance of dexmedetomidine in ICU patients as compared to CYP2A6 *1/*1.","alleles":"*1/*4 + *1/*4 + *9/*9","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in","population_phenotypes_or_diseases":"Other:ICU patients","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949723,"variant_haplotypes":"rs1934980","gene":"CYP2C8","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotypes AA + AG is not associated with resistance to clopidogrel in people with Stroke as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5980466","article_title":"Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation","article_path":"articles/PMC5980466.md","variant_annotation_id":1449188612,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"apixaban","pmid":29457840,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":null,"sentence":"Genotypes GG + GT is associated with increased clearance of apixaban in people with Atrial Fibrillation as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694693,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"yes","notes":"158/220 patients had the target INR (1.5\u20132.5). The comparison of weekly warfarin maintenance dose was among patients of different genotypes. The mean maintenance dose per week was significantly lower in the rs1057910 AC genotype (15.31\u00b15.26 mg/w) vs the AA genotype (21.21\u00b16.98 mg/w, p = 0.002 ANOVA). rs9923231 and rs1057910 had significant effects on maintenance dose (rs9923231: coefficient was 1.398, p < 0.001; rs1057910: coefficient was-0.994, p < 0.001) and together explained apx. 32.0% of warfarin maintenance dose variability.","sentence":"Genotype AA is associated with increased dose of warfarin in people with heart valve replacement as compared to genotype AC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672968,"variant_haplotypes":"rs778019189","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is associated with decreased metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3753327","article_title":"Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model","article_path":"articles/PMC3753327.md","variant_annotation_id":1183697679,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":23990957,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the *2 or *3 alleles showed significantly lower doses (17% or 32%, respectively) of warfarin as compared to patients with the wildtype genotype (*1/*1). When studied together with VKORC1 1639G/A, patients carrying variants in both genes needed between 34.8% and 84% of the dose needed for patients wildtype for both genes.","sentence":"CYP2C9 *2 + *3 are associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to CYP2C9 *1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3776990","article_title":"S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis","article_path":"articles/PMC3776990.md","variant_annotation_id":1184510932,"variant_haplotypes":"UGT1A1*6","gene":"UGT1A1","drugs":"irinotecan, oxaliplatin, tegafur / gimeracil / oteracil","pmid":23963147,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the objective response rate was seen between those with the *6 allele (85% responders) and those without one (64%).","sentence":"UGT1A1 *6 is not associated with response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183634290,"variant_haplotypes":"rs4376293","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"no","notes":"Significance was not attained. Observations: 2.50 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA, 0.38 mm Hg decreased reduction of systolic blood pressure per A allele in NORDIL, and 1.77 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele T is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3712827","article_title":"VKORC1 Asp36Tyr geographic distribution and its impact on warfarin dose requirements in Egyptians","article_path":"articles/PMC3712827.md","variant_annotation_id":981862284,"variant_haplotypes":"rs61742245","gene":"VKORC1","drugs":"warfarin","pmid":23571513,"phenotype_category":"Dosage","significance":"yes","notes":"Egyptian carriers of the VKORC1 rs61742245 A allele (Tyr 36) showed higher warfarin dose requirement (57.1 \u00b1 29.4 mg/week) than those with the CC (Asp36Asp) genotype (35.8 \u00b1 16.6 mg/week; p<0.03). \"This SNP was most frequent among Kenyans and Sudanese, with a minor allele frequency (MAF) of 6% followed by Saudi Arabians and Egyptians with a MAF of 3% and 2.5%, respectively. It was not detected in West Africans (Ghana), and a large cohort of African Americans.\"","sentence":"Genotypes AA + AC are associated with increased dose of warfarin as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2884029","article_title":"The role of organic anion-transporting polypeptides and their common genetic variants in mycophenolic acid pharmacokinetics","article_path":"articles/PMC2884029.md","variant_annotation_id":981477559,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"mycophenolate mofetil","pmid":19890249,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was found for the haplotype of 334T>G/699G>A (rs4149117G/rs7311358A). Patients were also treated with sirolimus or tacrolimus (results did not differ between these treatments so were pooled).","sentence":"Allele A is associated with decreased clearance of mycophenolate mofetil in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1975838","article_title":"Genetic-based dosing in orthopedic patients beginning warfarin therapy","article_path":"articles/PMC1975838.md","variant_annotation_id":1183699285,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":17387222,"phenotype_category":"Dosage","significance":"yes","notes":"*3 was associated with 38.1 %(95% CI 29.3 -45.7%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy.","sentence":"CYP2C9 *3 is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to CYP2C9 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:total knee or hip arthroplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4301945","article_title":"Sunitinib-induced severe toxicities in a Japanese patient with the ABCG2 421 AA genotype","article_path":"articles/PMC4301945.md","variant_annotation_id":1448431572,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"n-desethyl sunitinib, sunitinib","pmid":25515134,"phenotype_category":"Toxicity, Metabolism/PK","significance":"no","notes":"in a single case study. Authors state \"Therefore, we speculated that the extremely high plasma concentrations of sunitinib and SU12662 caused by the ABCG2 421 AA genotype might have resulted in severe toxicities to the patient.\"","sentence":"Genotype TT is associated with increased concentrations of n-desethyl sunitinib and sunitinib in women with Carcinoma, Renal Cell.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811613,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3673300","article_title":"Fixed dose capecitabine is feasible: results from a pharmacokinetic and pharmacogenetic study in metastatic breast cancer","article_path":"articles/PMC3673300.md","variant_annotation_id":1183682310,"variant_haplotypes":"rs2290272","gene":"SLC28A1","drugs":"capecitabine","pmid":23588952,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that these alleles were listed as G and T within the paper. No significant differences in the area under the concentration-time curve from 0 to infinity (AUCinf) were seen between any of the genotypes (CC, AC, AA). Nor were any significant differences seen between these genotypes when considering the capecitabine metabolites 5'-DFCR, 5'-DFUR or 5'FU (5'-fluorouracil).","sentence":"Allele A is not associated with metabolism of capecitabine in people with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2679896","article_title":"Pharmacokinetics of Efavirenz when Co-administered with Rifampin in TB/HIV Co-infected Patients: Pharmacogenetic Effect of CYP2B6 Variation","article_path":"articles/PMC2679896.md","variant_annotation_id":1448995933,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":18728241,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased concentrations of efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease, Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC5887212","article_title":"Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women","article_path":"articles/PMC5887212.md","variant_annotation_id":1450928770,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"bupropion, nicotine, varenicline","pmid":29621993,"phenotype_category":"Efficacy","significance":"yes","notes":"Women with the AA or AG genotypes were more likely to be abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation compared to those with the GG genotype.","sentence":"Genotypes AA + AG are associated with increased response to bupropion, nicotine or varenicline in women with Tobacco Use Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3246196","article_title":"Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition","article_path":"articles/PMC3246196.md","variant_annotation_id":1184747060,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*14, SLCO1B1*37","gene":"SLCO1B1","drugs":"methotrexate","pmid":22147369,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into SLCO1B1*37 by PharmVar in 2021.","sentence":"SLCO1B1 *14 is associated with increased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.","alleles":"*14","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *37","comparison_metabolizer_types":null} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1450950800,"variant_haplotypes":"rs3918290","gene":"DPYD","drugs":"FOLFIRI, FOLFOX, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups (no analyses were undertaken for the FOLFOX group) OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"Genotype CT is not associated with response to FOLFIRI, FOLFOX, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3909010","article_title":"Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes","article_path":"articles/PMC3909010.md","variant_annotation_id":1183944307,"variant_haplotypes":"rs3842","gene":"ABCB1","drugs":"efavirenz","pmid":24497997,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Steady-state plasma concentration from HIV infected patients treated with EFV were used to calculate baseline biochemistries, CD4 counts, and viral load. The authors used non-linear mixed effect modeling to created a PK model of efavirenz. Significant covariates predicted to affect PK of efavirenz were included in the final model. rs3842 T>C was considered a significant factor in covariate analysis and included in the final pharmacokinetic model.","sentence":"Allele C is associated with metabolism of efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8533258","article_title":"Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder","article_path":"articles/PMC8533258.md","variant_annotation_id":1451648933,"variant_haplotypes":"rs671","gene":"ALDH2","drugs":"naltrexone","pmid":34680127,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele is also referred to as the ALDH2*2 allele in the paper. Patients carrying the G allele reported fewer drinking days during naltrexone treatment.","sentence":"Allele G is associated with increased response to naltrexone in men with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994467,"variant_haplotypes":"rs3842","gene":"ABCB1","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.","sentence":"Allele C is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2896826","article_title":"Resequencing of serotonin-related genes and association of tagging SNPs to citalopram response","article_path":"articles/PMC2896826.md","variant_annotation_id":1452040233,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"citalopram","pmid":19077664,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to citalopram in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10085626","article_title":"Novel and replicated clinical and genetic risk factors for toxicity from high-dose methotrexate in pediatric acute lymphoblastic leukemia","article_path":"articles/PMC10085626.md","variant_annotation_id":1452008021,"variant_haplotypes":"rs7317112","gene":"ABCC4","drugs":"methotrexate","pmid":36764694,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"The G allele of rs7317112, an intronic variant of ABCC4, was the other SNP with a clear; association with prolonged MTX clearance\"","sentence":"Allele G is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666960,"variant_haplotypes":"rs1063537","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9890192","article_title":"Associations between CES1 variants and dosing and adverse effects in children taking methylphenidate","article_path":"articles/PMC9890192.md","variant_annotation_id":1452009286,"variant_haplotypes":"rs114119971","gene":"CES1","drugs":"methylphenidate","pmid":36741090,"phenotype_category":"Dosage","significance":"yes","notes":"Authors never explicitly state which allele is associated with lower dose but do show that it is minor allele which is observed in only two individuals. The frequencies in gnomAD for all populations show G as major allele and C as minor allele. \"The individuals with the rs114119971 SNV had a significantly lower weight-based dose (0.42\u2005mg/kg) as compared to those without (0.88\u2005mg/kg; p\u2009<\u20090.001).\"","sentence":"Genotype CG is associated with decreased dose of methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype GG.","alleles":"CG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10995391","article_title":"Effect of NAT2, GSTM1 and CYP2E1 genetic polymorphisms on plasma concentration of isoniazid and its metabolites in patients with tuberculosis, and the assessment of exposure-response relationships","article_path":"articles/PMC10995391.md","variant_annotation_id":1452443369,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"isoniazid","pmid":38584604,"phenotype_category":"Efficacy","significance":"no","notes":"\"A trend of association between NAT2 phenotypes and; tSCC was detected, with SA having 80% lower odds of tSCC within; 60 days in comparison to IA (OR = 0.2; 95% CI, 0.03\u20131.22); however,; statistical significance was not reached (p = 0.069) (Table 5).\"","sentence":"NAT2 slow acetylator is associated with decreased clinical benefit to isoniazid in people with Tuberculosis as compared to NAT2 intermediate acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate acetylator"} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356739,"variant_haplotypes":"rs4073","gene":"CXCL8","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5500390","article_title":"CYP2D6 Genetic Variation and Beta-Blocker Maintenance Dose in Patients with Heart Failure","article_path":"articles/PMC5500390.md","variant_annotation_id":1449717757,"variant_haplotypes":"CYP2D6*4","gene":"CYP2D6","drugs":"carvedilol","pmid":28181117,"phenotype_category":"Dosage","significance":"no","notes":"A trend was observed between the *4 allele and an increased maintenance dose of carvedilol.","sentence":"CYP2D6 *4 is associated with increased dose of carvedilol in people with Heart Failure.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11140026","article_title":"Genetic determinants of serum bilirubin using inferred native American gene variants in Chilean adolescents","article_path":"articles/PMC11140026.md","variant_annotation_id":1452502020,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"bilirubin","pmid":38826804,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"By considering the deconvoluted genotypes with NAT origin, we found that the variant with the strongest association was also rs887829, upstream of the UGT1A1 gene, beta = 0.35 mg/dL total bilirubin, p = 3.29 \u00d7 10\u221217, with a frequency of 34.2% in the NAT component of GOCS (Table 2; Supplementary Table S5).\" \"The variant rs887829 near UGT1A1 explained 34.98% of the variation in total bilirubin levels, while the rs1910167 variant near SLCO1B1 only explained 4.61%. \"","sentence":"Genotype TT is associated with increased concentrations of bilirubin in children as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4435089","article_title":"A pharmacokinetic comparison of two voriconazole formulations and the effect of CYP2C19 polymorphism on their pharmacokinetic profiles","article_path":"articles/PMC4435089.md","variant_annotation_id":1445297704,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"voriconazole","pmid":25999694,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Area under the concentration-time curve from dosing to last quantifiable concentration (AUClast) and maximum plasma concentration (Cmax) were greatest in CYP2C19 poor metabolizers (PMs; *2/*2 + *2/*3 + *3/*3), followed by intermediate metabolizers (IMs; *1/*2 + *1/*3) and then extensive metabolizers (EMs; *1/*1). The AUClast was 2.35-fold greater in PMs vs EMs, and 1.27-fold greater in IMs vs EMs. The intrasubject coefficient of variation (CV) for Cmax was 44% greater in PMs vs EMs, and 22% greater in IMs vs EMs. The intrasubject CV for AUClast was 71% greater for PMs vs EMs, and 135% greater for IMs vs EMs. However, no statistical analyses were provided for these differences. The authors also note that one individual with the *1/*17 genotype had an AUClast close to that of the EM group, and one with the *2/*17 genotype had an AUClast close to that of the IM group. Two voriconazole formulations were studied in this paper (SYP-1018 and Vfend), and these results apply to both formulations.","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3 (assigned as intermediate metabolizer and poor metabolizer phenotype) is associated with increased concentrations of voriconazole in healthy individuals as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340084,"variant_haplotypes":"rs2359612","gene":"VKORC1","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, this variant is associated with 17.3mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10914946","article_title":"Genetic Variants Associated With Response to Platinum-Based Chemotherapy in Non-Small Cell Lung Cancer Patients: A Field Synopsis and Meta\u2010Analysis","article_path":"articles/PMC10914946.md","variant_annotation_id":1452403200,"variant_haplotypes":"rs1799793","gene":"ERCC2","drugs":"Platinum compounds","pmid":38450253,"phenotype_category":"Efficacy","significance":"yes","notes":"\" Under the dominant model, ERCC2 rs1799793 was associated with an increased risk of PBC chemoresistance (OR = 1.186, 95% CI = 1.000\u20131.407), although the association was at borderline significance (p = 0.049). Similarly, an increased risk of chemoresistance was observed for under the allele model (OR = 1.311, 95% CI = 1.082\u20131.590, p < 0.01\" Alleles complemented to plus chromosomal strand.","sentence":"Genotypes CT + TT is associated with increased resistance to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811735,"variant_haplotypes":"rs1461773","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The T allele was associated with increased scores in the dizzy, drunk, high, nausea, talkative and uncomfortable traits as well as increased total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele A is associated with increased response to ethanol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2288721","article_title":"CYP4F2 genetic variant alters required warfarin dose","article_path":"articles/PMC2288721.md","variant_annotation_id":699638607,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":18250228,"phenotype_category":"Dosage","significance":"yes","notes":"4% to 12% increase in the warfarin dose per T allele. This is in Whites presumably of European descent.","sentence":"Genotype CC is associated with decreased dose of warfarin as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11520374","article_title":"The association of gene polymorphisms of adenosine and dopamine receptors with the response to caffeine citrate treatment in infants with apnea of prematurity: a prospective nested case-control study","article_path":"articles/PMC11520374.md","variant_annotation_id":1452690680,"variant_haplotypes":"rs10920573","gene":"ADORA1","drugs":"caffeine","pmid":39468580,"phenotype_category":"Efficacy","significance":"yes","notes":"\"In the univariate logistic regression analysis, the CC genotype of ADORA1 rs10920573 (TT / TC vs. CC: OR, 2.89; 95% CI, 1.30\u20136.40), TC genotype of ADORA2B rs2015353 (TT / CC vs. TC: OR, 2.56; 95% CI, 1.28\u20135.12), AG genotype of DRD3 rs7625282 (AA / GG vs. AG: OR, 2.15; 95% CI, 1.17\u20133.96), and CT genotype of DRD3 rs6280 (CC / TT vs. CT: OR, 2.36; 95% CI, 1.29\u20134.30) were identified as risk factors for non-response to caffeine citrate in preterm infants. \" \"CC genotype of ADORA1 rs10920573 (aOR, 3.51; 95% CI, 1.34\u20139.25) and CT genotype of DRD3 rs6280 (aOR, 3.19; 95% CI, 1.53\u20136.65) were identified as independent risk factors for non-response to caffeine citrate in preterm infants. \"","sentence":"Genotype CC is associated with decreased clinical benefit to caffeine in infants with Apnea of prematurity as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in infants with","population_phenotypes_or_diseases":"Other:Apnea of prematurity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446706623,"variant_haplotypes":"rs1933437","gene":"FLT3","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"no","notes":"The genotype was not associated with progression free survival, or overall survival either. Clinical benefit was defined as either partial response or stable disease. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974147,"variant_haplotypes":"rs3785873","gene":"ITGB3","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7305826","article_title":"Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients","article_path":"articles/PMC7305826.md","variant_annotation_id":1451356787,"variant_haplotypes":"rs842647","gene":"REL","drugs":"sufentanil","pmid":32606912,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3525178","article_title":"Influence of SLCO1B1 and CYP2C8 gene polymorphisms on rosiglitazone pharmacokinetics in healthy volunteers","article_path":"articles/PMC3525178.md","variant_annotation_id":1450935194,"variant_haplotypes":"CYP2C8*1, CYP2C8*3","gene":"CYP2C8","drugs":"rosiglitazone","pmid":19129086,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2C8*1/*3 genotype (n=7) had significantly lower rosiglitazone area under the plasma concentration\u2013time curve (AUC) and significantly higher rosiglitazone oral clearance, compared with CYP2C8 wild-type homozygotes.","sentence":"CYP2C8 *1/*3 is associated with decreased concentrations of rosiglitazone in healthy individuals as compared to CYP2C8 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7649675","article_title":"Pharmacogenetics of TNF inhibitor\u00a0response in rheumatoid arthritis utilizing the two-component disease activity score","article_path":"articles/PMC7649675.md","variant_annotation_id":1451293920,"variant_haplotypes":"rs13393173","gene":"CERS6","drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":33124499,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in 2C-DAS28. Table 2 shows change was a negative value for this variant suggesting decreased 2C-DAS28 and increased response, it was not attributed to a particular allele at this rs number location so assumed minor allele based on dbSNP frequencies.","sentence":"Allele A is associated with increased response to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183698998,"variant_haplotypes":"rs487750","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715981,"variant_haplotypes":"rs268214","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6448146","article_title":"Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users","article_path":"articles/PMC6448146.md","variant_annotation_id":1450375846,"variant_haplotypes":"rs537681","gene":"PGR","drugs":"etonogestrel","pmid":30870275,"phenotype_category":"Efficacy, Metabolism/PK","significance":"no","notes":"\"11.7% (31/266) of carriers for rs537681 had serum etonogestrel concentrations that fell below 90 pg/mL\" (the level for suppression of ovulation) in contraceptive implant users which may theoretically put them at risk for contraceptive failure. Corrected P-value cutoff of 5.0E-4 was not met.","sentence":"Genotypes CT + TT is associated with decreased steady-state concentration of etonogestrel in women as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2668081","article_title":"Contribution of the activities of CYP3A, CYP2D6, CYP1A2 and other potential covariates to the disposition of methadone in patients undergoing methadone maintenance treatment","article_path":"articles/PMC2668081.md","variant_annotation_id":1451158023,"variant_haplotypes":"CYP1A2 low activity","gene":"CYP1A2","drugs":"methadone","pmid":19133059,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"CYP1A2 phenotype, as assessed by caffeine metabolism did not significantly contribute to variance in methadone trough plasma concentrations.","sentence":"CYP1A2 low activity is not associated with trough concentration of methadone as compared to CYP1A2 high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} -{"pmcid":"PMC11052159","article_title":"Association between Genetic Polymorphism of SCN1A, GABRA1 and ABCB1 and Drug Responsiveness in Vietnamese Epileptic Children","article_path":"articles/PMC11052159.md","variant_annotation_id":1452460020,"variant_haplotypes":"rs2298771","gene":"SCN1A","drugs":"antiepileptics","pmid":38674283,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Specific drugs not specified. \"For rs2298771 G > A (p.Thr1067Ala), this is a variant in the coding region of the SCN1A gene. We found that the heterozygous genotype GA is a risk factor of DRE. The recessive model also showed that carriers of the G allele (GG + GA) were at higher risk of being drug-resistant. There were limited individuals with the GG genotype in both studies groups, therefore no statistical significance was found regarding the homozygous GG genotype among the two groups. \"","sentence":"Genotypes CC + CT is associated with increased resistance to antiepileptics in children with Epilepsy as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8426351","article_title":"Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans","article_path":"articles/PMC8426351.md","variant_annotation_id":1451503760,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"teneligliptin","pmid":34512362,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand. Significant only for Cmax, not for AUC or CL/F.","sentence":"Genotypes CT + TT is associated with decreased concentrations of teneligliptin in men as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6923423","article_title":"Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects","article_path":"articles/PMC6923423.md","variant_annotation_id":1451124102,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"rosuvastatin","pmid":31857620,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The exposure to rosuvastatin increased by 44% in young subjects (p\u2009=\u20090.0021) with BCRP intermediate function (IF) and by 35% and 59% (p\u2009>\u20090.05 for both) in elderly subjects with BCRP IF and low function. The ABCG2 421C\u2009>\u2009A polymorphism was identified as a more important determinant than the SLCO1B1 521T\u2009>\u2009C polymorphism in both elderly and young subjects.","sentence":"Genotypes GT + TT are associated with increased concentrations of rosuvastatin as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7968507","article_title":"ABCB1, CYP2B6, and CYP3A4 Genetic Polymorphisms do not Affect Methadone Maintenance Treatment in HCV-positive Patients","article_path":"articles/PMC7968507.md","variant_annotation_id":1451569107,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"methadone","pmid":33410778,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with metabolism of methadone in men with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11603417","article_title":"Novel genomic variants influencing methotrexate delayed clearance in pediatric patients with acute lymphoblastic leukemia","article_path":"articles/PMC11603417.md","variant_annotation_id":1452722720,"variant_haplotypes":"rs1800956","gene":"ENG","drugs":"methotrexate","pmid":39611166,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"All eight patients with ENG rs1800956 exhibited delayed MTX clearance. \" \"Case (MTX, delayed clearance) was defined as serum MTX, level (\u03bcmol/L) at 24 h \u2265 15 or 48 h \u2265 1.5 or 72 h \u2265 0.15 or 168 h \u2265 0.1, otherwise defined as control.\"","sentence":"Allele G is associated with decreased clearance of methotrexate in children with Acute lymphoblastic leukemia as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703569,"variant_haplotypes":"rs2282143","gene":"SLC22A1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving a major molecular response (MMR) within 12 months. MMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; MMR was a ratio <= 0.1%.","sentence":"Genotype CC is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11860030","article_title":"Impact of Genetic Variants on Pregabalin Pharmacokinetics and Safety","article_path":"articles/PMC11860030.md","variant_annotation_id":1452860540,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"pregabalin","pmid":40005966,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\" In this study,; NAT2 SAs showed a 16\u201318% increase in exposure compared to IAs and NAs. The observed; variations in t1/2 and Cl/F appear consistent, as NAT2 SAs exhibited a 25% higher t1/2 as; compared with NAT2 IAs and 58% higher compared to NAT2 NAs. Our findings suggest; that NAT2 could be partially responsible for the minor proportion of pregabalin metabolism.\" Alleles measured (table 5) were *5 rs1801280 (T>C), *6 rs1799930 (G>A) and *7 rs1799931 (G>A).","sentence":"NAT2 slow acetylator is associated with increased exposure to pregabalin in healthy individuals as compared to NAT2 intermediate acetylator and rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate acetylator and rapid acetylator"} -{"pmcid":"PMC8975736","article_title":"Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota","article_path":"articles/PMC8975736.md","variant_annotation_id":1451692704,"variant_haplotypes":"rs35742686","gene":"CYP2D6","drugs":"hydrocodone, oxycodone","pmid":35102242,"phenotype_category":"Efficacy","significance":"yes","notes":"variant is described as C \"protective\" against poor pain control compared to CT.","sentence":"Allele DELT is associated with increased clinical benefit to hydrocodone or oxycodone in people with Pain as compared to allele T.","alleles":"DELT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC9585281","article_title":"Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention","article_path":"articles/PMC9585281.md","variant_annotation_id":1451930248,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"clopidogrel","pmid":36278153,"phenotype_category":"Efficacy","significance":"yes","notes":"\"CYP2C19*2 AA carriers presented significantly lower mean PAIR% values (59.60 \u00b1 26.07) than CYP2C19*2 GA carriers (74.84 \u00b1 25.09) (p = 0.015). Our results also indicated that CYP2C19*2 AA carriers presented significantly lower mean PAIR% values (59.60 \u00b1 26.07) than CYP2C19*2 GG carriers (77.63 \u00b1 23.69) (p = 0.003) (Figure 1D).\"","sentence":"Genotype AA is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4788379","article_title":"PTPRD gene associated with blood pressure response to atenolol and resistant hypertension","article_path":"articles/PMC4788379.md","variant_annotation_id":1446902845,"variant_haplotypes":"rs12346562","gene":null,"drugs":"hydrochlorothiazide","pmid":26425837,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele of SNP rs12346562 was associated with better DBP response to atenolol, but with less pronounced response to hydrochlorothiazide. White participants with rs12346562 AA, AC, and CC genotypes had mean DBP responses of -3.8,-3.8, and -5.6 mmHg to atenolol (P=0.0018, b=1.55 mmHg; per A allele).","sentence":"Genotypes AA + AC is associated with decreased response to hydrochlorothiazide in people with Hypertension as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6046471","article_title":"Pharmacokinetics of efavirenz in patients on antituberculosis treatment in high human immunodeficiency virus and tuberculosis burden countries: A systematic review","article_path":"articles/PMC6046471.md","variant_annotation_id":1449275102,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":29624706,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"A systematic review. The authors only state that in the reviewed studies, patients with the slow metabolizer phenotype (associated with the TT genotype) had increased concentrations of efavirenz.","sentence":"Genotype TT is associated with increased concentrations of efavirenz in people with Hepatitis B and HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis B virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174889,"variant_haplotypes":"rs6946062","gene":"NT5C3A","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. rs6946062 is not associated with metabolism of gemcitabine.","sentence":"Genotype TT is not associated with metabolism of gemcitabine as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114883,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and AUC0-12 of lopinavir or ritonavir in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A388G.","sentence":"Allele G is not associated with exposure to lopinavir or ritonavir in children with HIV Infections as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166057,"variant_haplotypes":"rs4805162","gene":"ZNF565","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695442,"variant_haplotypes":"rs4680","gene":null,"drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5600689","article_title":"Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus","article_path":"articles/PMC5600689.md","variant_annotation_id":1448821806,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"lopinavir","pmid":28718515,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes AA + AG are not associated with concentrations of lopinavir in children with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3675749","article_title":"Influences of Organic Cation Transporter Polymorphisms on the Population Pharmacokinetics of Metformin in Healthy Subjects","article_path":"articles/PMC3675749.md","variant_annotation_id":1183682339,"variant_haplotypes":"rs2282143","gene":"SLC22A1","drugs":"metformin","pmid":23417334,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the CC genotype had decreased area under the serum concentration-time curve from zero to infinity (AUCinf) of metformin as compared to those with the CT or TT genotype. However, no significant association was seen for peak concentration (Cmax) of metformin.","sentence":"Genotype CC is associated with increased clearance of metformin in healthy individuals as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4526634","article_title":"Association of ABCB1 and FLT3 Polymorphisms with Toxicities and Survival in Asian Patients Receiving Sunitinib for Renal Cell Carcinoma","article_path":"articles/PMC4526634.md","variant_annotation_id":1446735619,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"sunitinib","pmid":26244574,"phenotype_category":"Efficacy","significance":"no","notes":"The genotype was not associated with progression free survival, or overall survival, or clinical benefit. Clinical benefit was defined as either partial response or stable disease. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype TT is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1452442340,"variant_haplotypes":"CYP2A6*1, CYP2A6*55","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Variant referred to as rs114558780 in the paper.","sentence":"CYP2A6 *55 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1.","alleles":"*55","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446895992,"variant_haplotypes":"rs16855294","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166134,"variant_haplotypes":"rs7858","gene":"NFIB","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995829,"variant_haplotypes":"rs833068","gene":"VEGFA","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874720,"variant_haplotypes":"rs2133251840","gene":"DRD4","drugs":"clozapine","pmid":40048458,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and benefit, PANSS beta is in Table negative. \"four SNPs in two genes were significantly associated with the total PANSS score: rs7787082 and rs10248420 in ABCB1 and rs2133251840 and rs762502 in DRD4 (Table 5). Among these, only one SNP in DRD4 (rs2133251840) resulted in different total PANSS scores at visits 3 and 4 according to its genotype\"","sentence":"Allele del is associated with increased clinical benefit to clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele GA.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"GA","comparison_metabolizer_types":null} -{"pmcid":"PMC3038469","article_title":"Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients","article_path":"articles/PMC3038469.md","variant_annotation_id":982034970,"variant_haplotypes":"rs56165452","gene":"CYP2C9","drugs":"warfarin","pmid":21228733,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP defines CYP2C9*4. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1.","sentence":"Genotype CT is associated with decreased dose of warfarin as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238675,"variant_haplotypes":"rs3819811","gene":"PLAGL1","drugs":"olanzapine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to olanzapine in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003010,"variant_haplotypes":"rs2231137","gene":"ABCG2","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele C is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11435314","article_title":"An Investigational Study on the Role of CYP2D6, CYP3A4 and UGTs Genetic Variation on Fesoterodine Pharmacokinetics in Young Healthy Volunteers","article_path":"articles/PMC11435314.md","variant_annotation_id":1452616360,"variant_haplotypes":"rs2244613","gene":"CES1","drugs":"fesoterodine","pmid":39338398,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"subjects with the CES1 rs2244613 C/A genotype were associated with a lower T1/2 compared to those with the A/A genotype (puv = 0.026) (Table 3). However, this association was not maintained in the multivariate analysis.\"","sentence":"Genotype GT is associated with decreased half-life time of fesoterodine in healthy individuals as compared to genotype TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4151614","article_title":"Warfarin dose requirements in a patient with the CYP2C9*14 allele","article_path":"articles/PMC4151614.md","variant_annotation_id":1184473659,"variant_haplotypes":"CYP2C9*1, CYP2C9*14","gene":"CYP2C9","drugs":"warfarin","pmid":24956244,"phenotype_category":"Dosage","significance":"not stated","notes":"This patient also carries the warfarin insensitive VKORC1 -1639GG and CYP4F2 433Met/Met genotypes.","sentence":"CYP2C9 *1/*14 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*14","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613214,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was seen for time 7, 30, and 90 days after transplantation. Exposure to CC was higher than CT, which was higher than TT.","sentence":"Genotype CC is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8533258","article_title":"Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder","article_path":"articles/PMC8533258.md","variant_annotation_id":1451648830,"variant_haplotypes":"rs1229984","gene":"ADH1B","drugs":"naltrexone","pmid":34680127,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. The T allele is also referred to as the ADH1B*2 allele in the paper.","sentence":"Allele T is not associated with response to naltrexone in men with Alcoholism as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11608742","article_title":"Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes","article_path":"articles/PMC11608742.md","variant_annotation_id":1452724860,"variant_haplotypes":"rs2301759","gene":"CBARP, STK11","drugs":"metformin","pmid":39612420,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Only STK11 (rs2301759) significantly affected metformin response among patients. T/T was the most frequent genotype (85%) in the inadequate-response group (P\u2005=\u2005.021). Other SNPs (rs4621031, rs34399035, rs1800058, and rs11212617) had no significant impact on metformin response. \"","sentence":"Genotype TT is associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183703276,"variant_haplotypes":"rs6962027","gene":"CHRM2","drugs":"fluticasone/salmeterol","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The \"major\" allele is associated with increased response. It is not clear whether that is A or T on the positive chromosomal strand.","sentence":"Allele A is associated with response to fluticasone/salmeterol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3597465","article_title":"COMT Val158Met, BDNF Val66Met, and OPRM1 Asn40Asp and Methamphetamine Dependence Treatment Response: Preliminary Investigation","article_path":"articles/PMC3597465.md","variant_annotation_id":1450813963,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"modafinil","pmid":22217949,"phenotype_category":"Efficacy","significance":"yes","notes":"Hispanic subjects with the GG genotype had significantly higher Treatment Effectiveness Scores when treated with modafinil compared to placebo. This significant association was not seen when comparing modafinil treatment against placebo in subject with the AA or AG genotypes.","sentence":"Genotype GG is associated with increased response to modafinil in people with methamphetamine dependence as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Methamphetamine dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550286,"variant_haplotypes":"rs362813","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11141156","article_title":"Dose adjustment of paroxetine based on CYP2D6 activity score inferred metabolizer status in Chinese Han patients with depressive or anxiety disorders: a prospective study and cross-ethnic meta-analysis","article_path":"articles/PMC11141156.md","variant_annotation_id":1452484920,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer","gene":"CYP2D6","drugs":"paroxetine","pmid":38776596,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"we found that the paroxetine Css of PMs, IMs, and UMs were 2.50, 1.12, and 0.39 times that of EMs, respectively, with PM and UM effects being statistically significant (multiple linear regression, exponentiated \u03b2 = 2.50, 95% CI: 1.08\u20135.76, P = 0.03; exponentiated \u03b2 = 0.39, 95% CI: 0.15\u20130.97, P = 0.04, respectively).\"","sentence":"CYP2D6 ultrarapid metabolizer is associated with decreased steady-state concentration of paroxetine in people with Depressive Disorder, Major, Anxiety Disorders or Panic Disorder as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"steady-state concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder, Other:Anxiety Disorders, Other:Panic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165367,"variant_haplotypes":"rs2227983","gene":"EGFR","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 6 studies. This association was not significant after multiple testing correction. This variant was listed as rs11543848 in the original article. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele A is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10309098","article_title":"Pharmacogenetic interactions of efavirenz or rifampin and isoniazid with levonorgestrel emergency contraception during treatment of HIV or tuberculosis","article_path":"articles/PMC10309098.md","variant_annotation_id":1452472401,"variant_haplotypes":"CYP2B6 intermediate metabolizer","gene":"CYP2B6","drugs":"levonorgestrel","pmid":37306344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Study investigated the effect on steady-state drugs used to treat HIV or tuberculosis on the pharmacokinetics of single dose levonorgestrel. Analysis carried out in the cohort treated with efavirenz.; Intermediate metabolizers defined as having one of the following genotypes:; 1) rs3745274 GG, rs28399499 TT and rs4803419 TT; 2) rs3745274 GT, rs28399499 TT and rs4803419 CC; 3) rs3745274 GG, rs28399499 CT and rs4803419 CC; 4) rs3745274 GT, rs28399499 TT and rs4803419 CT; 5) rs3745274 GG, rs28399499 CT and rs4803419 CT","sentence":"CYP2B6 intermediate metabolizer is not associated with increased clearance of levonorgestrel in women with HIV Infections as compared to CYP2B6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4010098","article_title":"Clinical Pharmacology of an Atrasentan and Docetaxel Regimen in Men with Hormone-Refractory Prostate Cancer","article_path":"articles/PMC4010098.md","variant_annotation_id":1185235766,"variant_haplotypes":"rs2250242","gene":"ORM2","drugs":"atrasentan","pmid":24619498,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in atrasentan apparent oral clearance was seen between the two genotype groups.","sentence":"Genotype AA is not associated with clearance of atrasentan in men with Prostatic Neoplasms as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038089,"variant_haplotypes":"rs4520","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes CT + TT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC8553963","article_title":"Influence of Cytochrome P450 2C19 Genotype on Helicobacter pylori Proton Pump Inhibitor-Amoxicillin-Clarithromycin Eradication Therapy: A Meta-Analysis","article_path":"articles/PMC8553963.md","variant_annotation_id":1451581644,"variant_haplotypes":"CYP2C19 normal metabolizer genotype","gene":"CYP2C19","drugs":"amoxicillin, clarithromycin, esomeprazole","pmid":34721043,"phenotype_category":"Efficacy","significance":"no","notes":"\"In contrast, studies that used rabeprazole and esomeprazole showed no significant differences in the RR of failed eradication among the three genotypes\"","sentence":"CYP2C19 normal metabolizer is not associated with decreased clinical benefit to amoxicillin, clarithromycin and esomeprazole in people with Helicobacter Infections as compared to CYP2C19 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC3093079","article_title":"Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients","article_path":"articles/PMC3093079.md","variant_annotation_id":1444710751,"variant_haplotypes":"CYP2D6*1, CYP2D6*5, CYP2D6*10","gene":"CYP2D6","drugs":"endoxifen","pmid":21480951,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients (pre- (83%) and postmenopausal (17%)) with ER and/or PR positive breast tumors, which received 20 mg tamoxifen daily. Patients taking CYP2D6 inhibitors were excluded. DNA extracted from blood and screened for the following: *2 (2850C>T; rs16947), *2A (\u20131584C>G), *3 (2549delA; rs35742686), *4 (1846G>A; rs3892097), *5 (CYP2D6del), *6 (1707delT; rs5030655), *7 (2935A>C; rs5030867), *8 (1758G>T), *9 (2615-2617delAAG; rs5030656), *10 (100C>T; rs1065852), *12 (124G>A; rs5030862), *14 (1758G>A), *17 (1023C>T; rs28371706), *29 (1659G>A; rs61736512), *41 (2988G>A; rs28371725) and *xN (dup). Also gene-dose dependent effect for CYP2D6*5 and *10 genotype vs *1/*1 for metabolic ratio of endoxifen/N-desmethyltamoxifen. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood]","sentence":"CYP2D6 *10/*10 + *5/*10 is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*10 + *1/*5.","alleles":"*10/*10 + *5/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*10 + *1/*5","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491207,"variant_haplotypes":"rs6874435","gene":"SV2C","drugs":"olanzapine","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.","sentence":"Genotype AA is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6461793","article_title":"Effects of SLCO1B1 and GATM gene variants on rosuvastatin-induced myopathy are unrelated to high plasma exposure of rosuvastatin and its metabolites","article_path":"articles/PMC6461793.md","variant_annotation_id":1451228555,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"rosuvastatin","pmid":29950617,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The mean Css/D of RST and its metabolites were significantly higher in the subjects carrying the ABCG2 421A than in non-carriers of this; allele. The effects of this allele remained significant after being adjusted by the baseline characteristics and false discovery rate; (FDR) (Padj < 0.01, FDR < 0.05).\"","sentence":"Genotypes GT + TT are associated with increased concentrations of rosuvastatin as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6142943","article_title":"Association of Genetic Variants With Response to Anti\u2013Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration","article_path":"articles/PMC6142943.md","variant_annotation_id":1449567013,"variant_haplotypes":"rs242939","gene":"CRHR1","drugs":"bevacizumab, ranibizumab","pmid":29852030,"phenotype_category":"Efficacy","significance":"no","notes":"The authors performed GWAS in a discovery cohort, and did a replication analysis.","sentence":"Allele C is not associated with response to bevacizumab and ranibizumab in people with as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5373545","article_title":"The risk of clopidogrel resistance is associated with ABCB1 polymorphisms but not promoter methylation in a Chinese Han population","article_path":"articles/PMC5373545.md","variant_annotation_id":1448995092,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"clopidogrel","pmid":28358842,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with genotype GG showed decreased platelet inhibtion compared to genotypes AA+AG. The authors than link increased platelet inhibition to increased resistance to clopidogrel.","sentence":"Genotypes AA + AG is associated with increased resistance to clopidogrel as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4628029","article_title":"CYP3A5 and ABCB1 genotype influence tacrolimus and sirolimus pharmacokinetics in renal transplant recipients","article_path":"articles/PMC4628029.md","variant_annotation_id":1447520846,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"sirolimus, tacrolimus","pmid":26543771,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No associations with tacrolimus or sirolimus pharmacokinetic parameters were seen for this SNP. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with metabolism of sirolimus or tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144225,"variant_haplotypes":"rs7959663","gene":"MYO1H","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449716026,"variant_haplotypes":"rs1982235","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3419350","article_title":"CYP2C19 polymorphism affects single-dose pharmacokinetics of oral pantoprazole in healthy volunteers","article_path":"articles/PMC3419350.md","variant_annotation_id":1447947314,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"pantoprazole","pmid":22418828,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There were 6 *17/*17 (TT) and 6 *1/*1 (CC). The study was done using pantoprazole. *1/*17 (n = 6) had concentration-time curves similar to *1/*1 subjects (typed only for *2 and *17).","sentence":"CYP2C19 *17 is associated with increased clearance of pantoprazole in healthy individuals as compared to CYP2C19 *1.","alleles":"*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4111883","article_title":"Characterisation of the Clinical Pharmacokinetics of Actinomycin D and the Influence of ABCB1 Pharmacogenetic Variation on Actinomycin D Disposition in Children with Cancer","article_path":"articles/PMC4111883.md","variant_annotation_id":1445296356,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"dactinomycin","pmid":24968986,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in actinomycin D clearance was seen between the genotypes (CC, AC, AA, CT, AT). Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with clearance of dactinomycin in children with Neoplasms.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4803610","article_title":"Race-specific influence of CYP4F2 on dose and risk of hemorrhage among warfarin users","article_path":"articles/PMC4803610.md","variant_annotation_id":1447952622,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":26877068,"phenotype_category":"Dosage","significance":"yes","notes":"in European americans, but not African americans.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2901912","article_title":"CYP2C9 Genotype and Pharmacodynamic Responses to Losartan in Patients with Primary and Secondary Kidney Diseases","article_path":"articles/PMC2901912.md","variant_annotation_id":1183490988,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"losartan","pmid":19669737,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with secondary kidney diseases carrying CYP2C9 variant alleles (*2 or *3) showed increases in blood pressure (both systolic and diastolic) as compared to patients with the *1/*1 genotype. A nonsignificant trend towards improved urinary protein excretion was seen in patients with primary kidney diseases with the *1/*1 genotype as compared to patients carrying variant alleles (*2 or *3).","sentence":"CYP2C9 *1/*3 is associated with decreased response to losartan in people with Kidney Diseases as compared to CYP2C9 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930684,"variant_haplotypes":"rs1948","gene":"CHRNB4","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele A is not associated with exposure to nicotine in men as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701285,"variant_haplotypes":"rs3814637","gene":"CYP2C19","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP explained 0.7% (P = 2.2 x 10(-6)) of the variation in warfarin dose. The direction of the allele:dose relationship is not given.","sentence":"Allele C is associated with dose of warfarin.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7302666","article_title":"Genetic variants in NECTIN4 encoding an adhesion molecule are associated with continued opioid use","article_path":"articles/PMC7302666.md","variant_annotation_id":1451356350,"variant_haplotypes":"rs11265549","gene":"NECTIN4","drugs":"methadone","pmid":32555608,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"rs11265549 was found to be in high linkage disequilibrium with rs3892375 and rs12116949 and was selected to be the tag SNP for all three variants.","sentence":"Genotype AA is associated with decreased concentrations of methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC8182957","article_title":"Effects of rs958804 and rs7858836 single\u2010nucleotide polymorphisms of the ASTN2 gene on pain\u2010related phenotypes in patients who underwent laparoscopic colectomy and mandibular sagittal split ramus osteotomy","article_path":"articles/PMC8182957.md","variant_annotation_id":1451592467,"variant_haplotypes":"rs958804","gene":"ASTN2","drugs":"fentanyl","pmid":33476460,"phenotype_category":"Dosage","significance":"yes","notes":"This variant was found to be in moderate LD with rs7858836. p<0.025 was considered to be statistically significant.","sentence":"Genotypes CC + CT are associated with decreased dose of fentanyl in people with Pain, Postoperative as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756052,"variant_haplotypes":"rs10875989","gene":"AQP2","drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8940650","article_title":"Effect of CYP3A5 and CYP3A4 Genetic Variants on Fentanyl Pharmacokinetics in a Pediatric Population","article_path":"articles/PMC8940650.md","variant_annotation_id":1451678262,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6","gene":"CYP3A5","drugs":"fentanyl","pmid":34877660,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP3A5 *1/*3 + *1/*6 + *3/*3 + *3/*6 + *6/*6 (assigned as intermediate metabolizer and poor metabolizer phenotype) are associated with decreased clearance of fentanyl in children as compared to CYP3A5 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*3 + *1/*6 + *3/*3 + *3/*6 + *6/*6","specialty_population":"Pediatric","metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2014539","article_title":"Plasma concentrations of haloperidol are related to CYP2D6 genotype at low, but not high doses of haloperidol in Korean schizophrenic patients","article_path":"articles/PMC2014539.md","variant_annotation_id":1183624234,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"haloperidol","pmid":11560558,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the *10 allele showed significantly higher plasma concentration:dose ratios of haloperidol as compared to patients with the *1 allele. When stratified for dose, this association was seen only in patients receiving less than 20mg/day (P=.003). In patients receiving 20mg/day or more, the association with CYP2D6 genotype no longer existed (P=.667). No association was seen between CYP2D6 genotype and plasma concentration:dose ratios of reduced haloperidol. CYP2D6*5 alleles were not included in statistical analysis due to low sample size.","sentence":"CYP2D6 *10 is associated with decreased metabolism of haloperidol in people with Schizophrenia as compared to CYP2D6 *1.","alleles":"*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935691,"variant_haplotypes":"rs762081829","gene":"CYP2C9","drugs":"tolbutamide","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of tolbutamide by CYP2C9 protein containing the T allele was 23% of that of the WT protein. Variant referred to as 218 C>T in the paper.","sentence":"Allele T is associated with decreased clearance of tolbutamide as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815015,"variant_haplotypes":"rs2636697","gene":"PPA2","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of G alleles present in a patient was positively associated with CGI-S score. Please note that this variant is in high linkage disequilibrium with rs2636719.","sentence":"Allele G is associated with decreased response to risperidone in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2644687","article_title":"Genetic variation in the Catechol-O-Methyltransferase (COMT) gene and morphine requirements in cancer patients with pain","article_path":"articles/PMC2644687.md","variant_annotation_id":981862185,"variant_haplotypes":"rs740603","gene":"COMT","drugs":"morphine","pmid":19094200,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"This was for alleviation of pain from cancer. The association was as part of a haplotype consisting of 11 rsIDs (the other rsIDs are rs2075507,rs7287550, rs5746849, rs737866, rs6269, rs2239393, rs4818, rs4680, rs174699, rs165728). The haplotype was associated with a dose reduction factor of 0.71 . Authors state that because the SNPs are linked, a strict Bonferroni correction is too conservative; however, that is what has been done here for p value. Also noted was that the carriers of haplotype 1 have had the cancer diagnosis longer than have carriers of other haplotypes, and so the true difference in morphine requirements may be even greater than observed here.","sentence":"Allele A is associated with decreased dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11763628","article_title":"Phase II Study of Nanoliposomal Irinotecan (Nal-IRI) with 5-Fluorouracil and Leucovorin in Refractory Advanced High-Grade Neuroendocrine Cancer of Gastroenteropancreatic (GEP) or Unknown Origin","article_path":"articles/PMC11763628.md","variant_annotation_id":1452827300,"variant_haplotypes":"UGT1A1*28","gene":"UGT1A1","drugs":"fluorouracil, irinotecan, leucovorin","pmid":39858006,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"\"We also found no differences in the efficacy or toxicity profile of patients based on their UGT1A1*28 status.\"","sentence":"UGT1A1 *28 is not associated with decreased clinical benefit to fluorouracil, irinotecan and leucovorin in people with Neuroendocrine Tumors.","alleles":"*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Neuroendocrine Tumors","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388203,"variant_haplotypes":"rs1402467","gene":"SULT1C4","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper)","sentence":"Allele G is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4405819","article_title":"CYP2B6*6, CYP2B6*18, Body weight and sex are predictors of efavirenz pharmacokinetics and treatment response: population pharmacokinetic modeling in an HIV/AIDS and TB cohort in Zimbabwe","article_path":"articles/PMC4405819.md","variant_annotation_id":1448997148,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":25889207,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2B6*6 TT had 63% lower CL/F (CV=9%).","sentence":"Genotype TT are associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4100708","article_title":"Secondary metabolism pathway polymorphisms and plasma efavirenz concentrations in HIV-infected adults with CYP2B6 slow metabolizer genotypes","article_path":"articles/PMC4100708.md","variant_annotation_id":1184467538,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":24729586,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"A multivariate linear regression model that included CYP2A6 rs28399433, UGT2B7 rs2365062 and CYP2B6 rs28399499 explained 22% variance in efavirenz plasma concentrations. *Note: All participants were CYP2B6 slow metabolizers (defined by the following genotypes of two SNPs: rs3745274 TT, or rs3745274 T/rs28399499 C or rs28399499 CC).* Alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is associated with metabolism of efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4270923","article_title":"G Protein-Coupled Receptor Kinase 5 Gene Polymorphisms Are Associated with Postoperative Atrial Fibrillation Following Coronary Artery Bypass Graft Surgery in Patients Receiving Beta-Blockers","article_path":"articles/PMC4270923.md","variant_annotation_id":1451862762,"variant_haplotypes":"rs4752292","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":25049040,"phenotype_category":"Efficacy","significance":"yes","notes":"Single-nucleotide polymorphisms in 10 candidate genes were tested for association with atrial fibrillation after coronary artery bypass grafting despite perioperative beta blocker therapy. The authors did not clearly identify the rs4752292 risk allele; it is variously identified as A or T in the supplementary materials. It is here assumed to be T, because rs4752292 is annotated as a T > G variant. rs4752292 is in strong linkage disequilibrium with rs3740563.","sentence":"Allele T is associated with decreased response to Beta Blocking Agents in people with Coronary Artery Disease as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752012,"variant_haplotypes":"rs4742","gene":"DCTD","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented to plus chromosomal strand.","sentence":"Genotype GG is associated with decreased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3673300","article_title":"Fixed dose capecitabine is feasible: results from a pharmacokinetic and pharmacogenetic study in metastatic breast cancer","article_path":"articles/PMC3673300.md","variant_annotation_id":1183682259,"variant_haplotypes":"rs2072671","gene":"CDA","drugs":"capecitabine","pmid":23588952,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant differences in the area under the concentration-time curve from 0 to infinity (AUCinf) were seen between any of the genotypes (CC, AC, AA). Nor were any significant differences seen between these genotypes when considering the capecitabine metabolites 5'-DFCR, 5'-DFUR or 5'FU (5'-fluorouracil). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele C is not associated with metabolism of capecitabine in people with Breast Neoplasms as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7674153","article_title":"Association of MICA-129Met/Val polymorphism with clinical outcome of anti-TNF therapy and MICA serum levels in patients with rheumatoid arthritis","article_path":"articles/PMC7674153.md","variant_annotation_id":1451411060,"variant_haplotypes":"rs1051792","gene":"MICA","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":32123296,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was significant at 3 months following treatment initiation, but significance was lost at the 6 month timepoint.","sentence":"Genotype GG is associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC1874463","article_title":"Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism","article_path":"articles/PMC1874463.md","variant_annotation_id":981201935,"variant_haplotypes":"CYP2A6*1, CYP2A6*4","gene":"CYP2A6","drugs":"nicotine","pmid":12445030,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"Individuals with *4, *7, *10 alleles had impaired nicotine metabolism in this study. Statistics were comparing metabolism levels in Japanese and Korean subjects, rather than these alleles compared to wildtype.","sentence":"CYP2A6 *4 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1.","alleles":"*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574582,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"Lastly, a lower Cmax/DW was observed in the SLC19A1 rs1051266 A/A genotype compared to the A/G genotype (puv = 0.016) (Table 4). \"","sentence":"Genotype TT is associated with decreased dose-adjusted trough concentrations of mirabegron in healthy individuals as compared to genotype CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4134280","article_title":"A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients","article_path":"articles/PMC4134280.md","variant_annotation_id":1184757008,"variant_haplotypes":"rs3093105","gene":"CYP4F2","drugs":"warfarin","pmid":25126975,"phenotype_category":"Dosage","significance":"no","notes":"Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that \"SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model.\"","sentence":"Allele C is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896105,"variant_haplotypes":"rs2511398","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185012360,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"no","notes":"All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. ABCB1 genotype was not significantly associated with C/D of tacrolimus at any time point.","sentence":"Genotype AA is not associated with concentrations of tacrolimus in children with liver transplantation.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1184747491,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"tenofovir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":null,"sentence":"Genotypes AA + AG is not associated with increased discontinuation of tenofovir in people with HIV Infections as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4527535","article_title":"Multigene predictors of tacrolimus exposure in kidney transplant recipients","article_path":"articles/PMC4527535.md","variant_annotation_id":1444934293,"variant_haplotypes":"CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":26067485,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was observed between CYP3A4*22 genotype and tacrolimus trough concentrations after multivariable analysis adjusting for CYP3A5*1 status and clinical factors. The authors note that the CYP3A4*22 variant was infrequent with a low minor allele frequency. n=35,043 tacrolimus trough concentrations were available for analysis.","sentence":"CYP3A4 *22 is not associated with trough concentration of tacrolimus in people with Kidney Transplantation.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3125052","article_title":"The impact of VKORC1-1639 G>A polymorphism on the maintenance dose of oral anticoagulants for thromboembolic prophylaxis in North India: A pilot study","article_path":"articles/PMC3125052.md","variant_annotation_id":827826043,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":21747589,"phenotype_category":"Dosage, Metabolism/PK","significance":"not stated","notes":"in Indian patients.","sentence":"Allele T is associated with decreased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2673121","article_title":"Relative contribution of CYP2C9 and VKORC1 genotypes and early INR response to the prediction of warfarin sensitivity during initiation of therapy","article_path":"articles/PMC2673121.md","variant_annotation_id":1447573274,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":19074728,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"CYP2C9 *2 + *3 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5354739","article_title":"Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma","article_path":"articles/PMC5354739.md","variant_annotation_id":1449188891,"variant_haplotypes":"rs6785049","gene":"NR1I2","drugs":"methotrexate","pmid":27566582,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Concentrations refers to concentration at 48 hrs","sentence":"Allele G is associated with increased concentrations of methotrexate in children with Osteosarcoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114900,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and virologic suppression in patients treated with lopinavir/ritonavir. Variant referred to in the paper as A388G.","sentence":"Allele G is not associated with response to lopinavir or ritonavir in children with HIV Infections as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11608742","article_title":"Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes","article_path":"articles/PMC11608742.md","variant_annotation_id":1452724995,"variant_haplotypes":"rs4621031","gene":"ALDH3A2","drugs":"metformin","pmid":39612420,"phenotype_category":"Efficacy","significance":"no","notes":"\"Other SNPs (rs4621031, rs34399035, rs1800058, and rs11212617) had no significant impact on metformin response. \"","sentence":"Allele T is not associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6387687","article_title":"Carfilzomib and lenalidomide response related to VEGF and VEGFR2 germline polymorphisms","article_path":"articles/PMC6387687.md","variant_annotation_id":1448634666,"variant_haplotypes":"rs1870377","gene":"KDR","drugs":"carfilzomib, dexamethasone, lenalidomide","pmid":28488026,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by \"minimum residual disease negativity\" (MRD-). Gene is on negative strand, alleles complemented to positive strand. Authors reported for response associated allele as protein change as 472Q.","sentence":"Genotypes AT + TT is associated with increased response to carfilzomib, dexamethasone and lenalidomide in people with Multiple Myeloma as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Multiple Myeloma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185012341,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"no","notes":"All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. ABCB1 genotype was not significantly associated with C/D of tacrolimus at any time point.","sentence":"Genotype AA is not associated with concentrations of tacrolimus in children with liver transplantation.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3081375","article_title":"Tamoxifen Metabolite Concentrations, CYP2D6 Genotype and Breast Cancer Outcomes","article_path":"articles/PMC3081375.md","variant_annotation_id":1444935672,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"tamoxifen","pmid":21430657,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Included were patients with ER-positive tumor who had been taking tamoxifen for at least 4 month. no info on menopausal status. Genotyped using AmpliChip CYP450 Test. (i) nonfunctional (PM) alleles include CYP2D6*3, *4, *5, *6, *7, *8, *11, *14A, *15, *19, *20, and *40, and the *4XN gene duplication; (ii) reduced function (intermediate metabolizer) alleles include CYP2D6*9, *10, *17, *29, *36, and *41, and gene duplications *10XN, *17XN, and *41XN; (iii) fully functional (extensive metabolizer or EM) alleles include CYP2D6*1, *2, and *35 and (iv) increased function (ultrarapid metabolizer) phenotype alleles include gene duplications such as CYP2D6*1XN, *2XN, and *35XN. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood] [HWE: yes]","sentence":"CYP2D6 poor metabolizer is not associated with increased concentrations of tamoxifen in women with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451673040,"variant_haplotypes":"rs143841823","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele G is not associated with metabolism of nicotine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4615595","article_title":"Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response","article_path":"articles/PMC4615595.md","variant_annotation_id":982044398,"variant_haplotypes":"rs1417938","gene":"CRP","drugs":"fenofibrate","pmid":18285551,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had a greater reduction in C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, as compared to carriers of the A allele. In strong linkage disequilibrium with rs3091244 and rs1205 (r2 = 0.4 - 0.9, p < 0.001) and in weak linkage disequilibrium with rs3093059 (r2 = 0.17, p < 0.05).","sentence":"Genotype TT is associated with increased response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AA + AT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metabolic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} -{"pmcid":"PMC4012347","article_title":"Possible impact of the CYP2D6*10 polymorphism on the nonlinear pharmacokinetic parameter estimates of paroxetine in Japanese patients with major depressive disorders","article_path":"articles/PMC4012347.md","variant_annotation_id":1184747953,"variant_haplotypes":"CYP2D6*2, CYP2D6*5, CYP2D6*10, CYP2D6*39","gene":"CYP2D6","drugs":"paroxetine","pmid":24868171,"phenotype_category":"Metabolism/PK","significance":"no","notes":"CYP2D6*2/*10 (n=2), CYP2D6*10/*39 (n=2), CYP2D6*39/*39 (n=2), CYP2D6*10/*10 (n=6), CYP2D6*5/*39 (n=2), and CYP2D6*5/*10 (n=1). The genotypes were grouped as follow: CYP2D6*10 allele carriers and noncarriers. Plasma paroxetine concentrations between the CYP2D6 genotypes using the Mann\u2013Whitney U-test, the plasma concentrations did not differ significantly between the CYP2D6*10 allele carriers and the noncarriers among the patients treated with 20 mg/day, 30 mg/day, or 40 mg/day of paroxetine (P=0.673, P=1.000, and P=0.400, respectively). Km (p=0.008) and Vmax (p=0.022) values were significantly smaller in CYP2D6*10 allele carriers than in the noncarriers.","sentence":"CYP2D6 *2/*10 + *10/*39 + *10/*10 + *5/*10 is not associated with concentrations of paroxetine in people with Depressive Disorder, Major as compared to CYP2D6 *39/*39 + *5/*39.","alleles":"*2/*10 + *10/*39 + *10/*10 + *5/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*39/*39 + *5/*39","comparison_metabolizer_types":null} -{"pmcid":"PMC5306492","article_title":"Polymorphisms in ABCB1 and CYP19A1 genes affect anastrozole plasma concentrations and clinical outcomes in postmenopausal breast cancer patients","article_path":"articles/PMC5306492.md","variant_annotation_id":1448614994,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"anastrozole","pmid":27747906,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles have been complemented to the positive strand.","sentence":"Genotype GG is not associated with concentrations of anastrozole in women with Breast Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5908896","article_title":"Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients","article_path":"articles/PMC5908896.md","variant_annotation_id":1449557367,"variant_haplotypes":"rs6031587","gene":"HNF4A","drugs":"irinotecan","pmid":29706892,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with metabolism of irinotecan in people with Colorectal Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11158672","article_title":"Influence of ABCB1 and ABCG2 polymorphisms on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11158672.md","variant_annotation_id":827836346,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"doxorubicin","pmid":18377430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Significance given for the haplotype of ABCB1 c.1236C>T, c.2677G>A/T, and c.3435C>T (rs1128503, rs2032582 and rs1045642) which was associated with increased drug exposure and reduced clearance. Patients harboring the CC-GG-CC genotypes had significantly lower peak plasma concentrations of doxorubicinol compared to patients who had TT-TT-TT genotypes (P = 0.03).","sentence":"Genotype AA is associated with decreased metabolism of doxorubicin in people with Breast Neoplasms as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3525665","article_title":"SLC22A1-ABCB1 Haplotype Profiles Predict Imatinib Pharmacokinetics in Asian Patients with Chronic Myeloid Leukemia","article_path":"articles/PMC3525665.md","variant_annotation_id":982046272,"variant_haplotypes":"rs628031","gene":"SLC22A1","drugs":"imatinib","pmid":23272163,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This SNP was not significantly correlated with imatinib pharmacokinetics individually, but was significant when studied as part of a haplotype including IVS6-878C>A(rs3798168) and IVS7+850C>T polymorphisms. Patients carrying 2 copies of AGT or CGC haplotypes (rs3798168, rs628031, IVS7+850C>T) had significantly higher (50%) imatinib trough levels and significantly lower (33.4%) clearance than patients with zero or 1 copy.","sentence":"Genotype GG is associated with decreased clearance of imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821457,"variant_haplotypes":"rs2708092","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use.","sentence":"Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3434304","article_title":"Predicting Inhaled Corticosteroid Response in Asthma with Two Associated SNPs","article_path":"articles/PMC3434304.md","variant_annotation_id":827921704,"variant_haplotypes":"rs1876828","gene":"CRHR1","drugs":"glucocorticoids","pmid":22641026,"phenotype_category":"Efficacy","significance":"yes","notes":"as part of a two SNP predictive test of FEV1 change, which identified patients with good or poor steroid response (highest or lowest quartile, respectively). P values are for predictive performance of the test.","sentence":"Allele T is associated with increased response to glucocorticoids in people with Asthma as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815058,"variant_haplotypes":"rs17742120","gene":"PDE4D","drugs":"quetiapine","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of G alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs17382202 and rs2164660.","sentence":"Allele G is associated with increased response to quetiapine in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC556232","article_title":"Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin","article_path":"articles/PMC556232.md","variant_annotation_id":613978582,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"phenytoin","pmid":15805193,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele C is associated with increased dose of phenytoin in people with Epilepsy as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928135,"variant_haplotypes":"rs2515641","gene":"CYP2E1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was initially significantly more frequent in patients designated as responders to risperidone (i.e. >50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele T is associated with increased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10769478","article_title":"The role of IL10 and IL17 gene polymorphisms in treatment response in children and adolescents with severe asthma","article_path":"articles/PMC10769478.md","variant_annotation_id":1452358680,"variant_haplotypes":"rs3819024","gene":"IL17A","drugs":"budesonide, fluticasone/salmeterol, formoterol, omalizumab","pmid":38232251,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by FEV1. \"Asthma patients with the AG or GG genotype showed less bronchodilator responsiveness than did those with the AA genotype (p < 0.05; Mann-Whitney test). \" \"Some patients were using dry-powder inhalers that delivered a combination of budesonide and formoterol, whereas others were using pressurized metered-dose inhalers that delivered a combination of fluticasone and salmeterol or omalizumab only\"","sentence":"Genotypes AG + GG is associated with decreased clinical benefit to budesonide, fluticasone/salmeterol, formoterol or omalizumab in children with Asthma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2432487","article_title":"Effect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians","article_path":"articles/PMC2432487.md","variant_annotation_id":1447947268,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"lansoprazole, omeprazole","pmid":18241283,"phenotype_category":"Efficacy","significance":"yes","notes":"Based on cumulative mean percentage of time with intragastric pH>4 on day 1.","sentence":"CYP2C19 *1/*1 + *1/*17 are associated with decreased response to lansoprazole or omeprazole in healthy individuals as compared to CYP2C19 *1/*2 + *2/*17 + *2/*2.","alleles":"*1/*1 + *1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *2/*17 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC3988537","article_title":"Influence of RGS2 on Sertraline Treatment for Social Anxiety Disorder","article_path":"articles/PMC3988537.md","variant_annotation_id":1452043330,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"sertraline","pmid":24154666,"phenotype_category":"Efficacy","significance":"no","notes":"rs6313 was not associated with significant differences in change in LSAS score in patients receiving sertraline.","sentence":"Allele A is not associated with response to sertraline in people with Anxiety Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Anxiety Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4298011","article_title":"Adrenergic receptor genotype influences heart failure severity and \u03b2-blocker response in children with dilated cardiomyopathy","article_path":"articles/PMC4298011.md","variant_annotation_id":1451544786,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"Beta Blocking Agents","pmid":25406899,"phenotype_category":"Efficacy","significance":"yes","notes":"Study looked at effect of 'high-risk' genotypes (i.e. genotypes of one or more of rs61767072 del, rs1801253 C or rs1042713 A alleles) on response to beta-blockers. Patients with more 'high-risk' alleles showed a greater response to beta-blockers than those with fewer 'high-risk' alleles.","sentence":"Allele C is associated with increased response to Beta Blocking Agents in children with Cardiomyopathy, Dilated as compared to allele G.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Cardiomyopathy, Dilated","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896047,"variant_haplotypes":"rs1470108","gene":"MIR7-2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767377,"variant_haplotypes":"rs17163429","gene":"AIDA","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele C is not associated with trough concentration of vancomycin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2992873","article_title":"Genetic Variation of VKORC1 and CYP4F2 Genes Related to Warfarin Maintenance Dose in Patients with Myocardial Infarction","article_path":"articles/PMC2992873.md","variant_annotation_id":981500592,"variant_haplotypes":"rs17708472","gene":"VKORC1","drugs":"warfarin","pmid":21127708,"phenotype_category":"Dosage, Efficacy","significance":"no","notes":"This is VKORC1 *4. There was a significant association when analyzed alone, but the effect was so small that it was negligible when analyzed with VKORC1*2,CYP2C9*2 and CYP2C9*3.","sentence":"Allele A is associated with increased dose of warfarin in people with Myocardial Infarction as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Myocardial Infarction","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9028965","article_title":"Influence of Receptor Polymorphisms on the Response to \u03b1-Adrenergic Receptor Blockers in Pheochromocytoma Patients","article_path":"articles/PMC9028965.md","variant_annotation_id":1451770141,"variant_haplotypes":"rs521674","gene":"ADRA2A","drugs":"doxazosin, phenoxybenzamine","pmid":35453646,"phenotype_category":"Dosage","significance":"no","notes":"\"the T allele of rs521674 in ADRA2A was associated with a three times higher risk (being in a higher dosage step) than the A allele\" \"However, none of these significances survived the multiple testing correction.\"","sentence":"Allele T is associated with increased dose of doxazosin or phenoxybenzamine in people with Pheochromocytoma or Paraganglioma as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Pheochromocytoma, Other:Paraganglioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699038,"variant_haplotypes":"rs11103182","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).","sentence":"Allele G is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566681,"variant_haplotypes":"rs1662060","gene":"ADH1C","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele C is associated with metabolism of ethanol.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4956330","article_title":"Prediction of Warfarin Dose in Pediatric Patients: An Evaluation of the Predictive Performance of Several Models","article_path":"articles/PMC4956330.md","variant_annotation_id":1448255569,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":27453700,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele G is associated with dose of warfarin in children with Heart Diseases.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Heart Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2910688","article_title":"Associations between tamoxifen, estrogens, and FSH serum levels during steady state tamoxifen treatment of postmenopausal women with breast cancer","article_path":"articles/PMC2910688.md","variant_annotation_id":1445401203,"variant_haplotypes":"CYP2D6*1, CYP2D6*4, CYP2D6*5","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, endoxifen","pmid":20565970,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The study observed a relations between the serum levels of 4OHtam and endoxifen and CYP2D6 gene dose effect. Postmenopausal women adjuvantly treated with tamoxifen 20 mg daily with ER positive breast cancer. DNA was extracted from blood and *3, *4, *5 and *6 were determined.","sentence":"CYP2D6 *4/*4 + *4/*5 are associated with decreased concentrations of 4-hydroxytamoxifen and endoxifen in women with as compared to CYP2D6 *1/*1.","alleles":"*4/*4 + *4/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10196221","article_title":"Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study","article_path":"articles/PMC10196221.md","variant_annotation_id":1452107300,"variant_haplotypes":"rs885821","gene":"PRF1","drugs":"rivaroxaban","pmid":37203300,"phenotype_category":"Toxicity","significance":"no","notes":"as measured by peak anti\u2010FXa level. Association described as \"suggestive\". \"The incidence of bleeding events were significantly related to the peak anti\u2010FXa level, which were significantly increased in patients with bleeding events than in those without\"","sentence":"Allele G is associated with increased response to rivaroxaban in people with Atrial Fibrillation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003659,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4541975","article_title":"CYP2B6*6 allele and age substantially reduce steady-state ketamine clearance in chronic pain patients: impact on adverse effects","article_path":"articles/PMC4541975.md","variant_annotation_id":1444698157,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"ketamine","pmid":25702819,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median plasma clearance in the *6/*6 genotype was 21.6 L/h, *1/*6 genotype 40.6 L/h and *1/*1 genotype 68.1 L/h. In linear regression analysis the *6 allele explained 40%, 43%, and 41% of the variability in ketamine clearance when the dose was 100, 300 and 500 mg/24 hrs. The authors state that the study was insufficiently powered to study the association between adverse effects and genotype and most of the adverse events were reported in patients with the CYP2B6 *1/*1 genotype.","sentence":"CYP2B6 *6 is associated with decreased clearance of ketamine in people with Neoplasms and Pain as compared to CYP2B6 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms, Disease:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC8767566","article_title":"Effect of HIV, antiretrovirals, and genetics on methadone pharmacokinetics: Results from the methadone antiretroviral pharmacokinetics study","article_path":"articles/PMC8767566.md","variant_annotation_id":1451516560,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"(R)-methadone","pmid":34482033,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The ABCB1 rs2032582 AA genotype significantly decreased R-methadone CL/F.\"","sentence":"Genotype AA is associated with decreased clearance of (R)-methadone in people with HIV Infections as compared to genotypes AT + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2756088","article_title":"Influence of CYP2C9 Genotype on warfarin dose among African American and European Americans","article_path":"articles/PMC2756088.md","variant_annotation_id":1183701419,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*10, CYP2C9*11","gene":"CYP2C9","drugs":"warfarin","pmid":19802360,"phenotype_category":"Dosage","significance":"yes","notes":"Where (*2+*3+*5+*6+*11) are considered variant (*V), Average Daily maintenance dose for *1/*1 > *1/*V > *V/*V. *5,*6,*11 were only seen in African-Americans. This result was significant in European-Americans but not in African-Americans.","sentence":"CYP2C9 *11 + *2 + *3 + *5 + *6 is associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*11 + *2 + *3 + *5 + *6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3565812","article_title":"Convergent animal and human evidence suggests the activin/inhibin pathway to be involved in antidepressant response","article_path":"articles/PMC3565812.md","variant_annotation_id":981939599,"variant_haplotypes":"rs12082710","gene":"TGFBR3","drugs":"antidepressants","pmid":23092981,"phenotype_category":"Efficacy","significance":"yes","notes":"Homozygote carriers of the T allele were more frequent among responders to antidepressant treatment as compared to non-responders. Response to treatment was defined as a score reduction of greater than 50% on the 21-item Hamilton Depression Rating Scale (HAM-D) between score at admission and score 5 weeks after treatment initiation.","sentence":"Genotype TT is associated with increased response to antidepressants in people with Depression as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC6734474","article_title":"CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA","article_path":"articles/PMC6734474.md","variant_annotation_id":1451104645,"variant_haplotypes":"rs222749","gene":"TRPV1","drugs":"botulinum toxin type a","pmid":31014225,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was found at a significantly higher frequency in non-responders than in responders. Note that this variant was not present at Hardy-Weinberg equilibrium in the study cohort (p=0.00006).","sentence":"Allele A is associated with decreased response to botulinum toxin type a in women with Migraine NOS as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Migraine disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4692529","article_title":"A Randomized Trial of Pharmacogenetic Warfarin Dosing in Na\u00efve Patients with Non-Valvular Atrial Fibrillation","article_path":"articles/PMC4692529.md","variant_annotation_id":1448276503,"variant_haplotypes":"CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":26710337,"phenotype_category":"Dosage","significance":"not stated","notes":"This study assessed whether a pharmacogenetic algorithm, which included these variants as well as the VKORC1 rs9923231 and CYP4F2*3 variants, is superior in overall anticoagulation control when compared to clinical standard of care.","sentence":"CYP2C9 *2 + *3 are associated with dose of warfarin.","alleles":"*2 + *3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574540,"variant_haplotypes":"rs2011425","gene":"UGT1A4","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Also, the t1/2 was higher in the UGT1A4 rs2011425 T/G genotype compared to the T/T genotype (puv = 0.002, pmv = 0.003, \u03b2 = 0.268, R2 = 0.381) (Table 4). \"","sentence":"Genotype GT is associated with increased half-life time of mirabegron in healthy individuals as compared to genotype TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452569900,"variant_haplotypes":"rs1800587","gene":"IL1A","drugs":"aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5619051","article_title":"Influence of common and rare genetic variation on warfarin dose among African\u2013Americans and European\u2013Americans using the exome array","article_path":"articles/PMC5619051.md","variant_annotation_id":1451408520,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":28686080,"phenotype_category":"Dosage","significance":"yes","notes":"in patients initiating warfarin treatment with a target international normalized ratio (INR) of 2 to 3. Direction of the relationship of allele to dose is not explicitly stated. rs12777823 is described as \"within the CYP2C gene cluster\" and \"upstream from CYP2C18\".","sentence":"Allele A is associated with dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472447,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"yes","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele T is associated with increased dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794008,"variant_haplotypes":"rs183484","gene":"RRM1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"yes","notes":"Patients with the AC genotype had shorter progression free survival than patients with either the AA or the CC genotypes. However, tumor response to therapy and risk of developing neutropenia did not significantly differ between genotype groups. There were four SNPs in this study that, when taken together, affected progression free survival: rs183484, rs2072671, rs760370, and rs9937. Using patients with 0 or 1 variant as reference, patients with 2 variants had an increased HR of 1.79 (P = 0.004) and patients with 3-4 variants has an increased HR of 3.25 (P < 0.001).","sentence":"Genotype AC is associated with decreased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + CC.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747571,"variant_haplotypes":"rs75982813","gene":"NEDD4L","drugs":"atenolol","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to atenolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2754599","article_title":"CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti","article_path":"articles/PMC2754599.md","variant_annotation_id":1184471413,"variant_haplotypes":"rs36118214","gene":"CYP2B6","drugs":"efavirenz","pmid":19659438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As determined by significantly different efavirenz plasma levels in patients with genotypes in the order AAT) (r squared = 0.242).","sentence":"Genotype GG is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4583245","article_title":"A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism","article_path":"articles/PMC4583245.md","variant_annotation_id":1446903336,"variant_haplotypes":"rs56113850","gene":"CYP2A6","drugs":"nicotine","pmid":26407342,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The minor allele was independently associated with decreased NMR, indicating decreased rate of nicotine clearance. rs56113850 and rs12461964 were in LD with CYP2A6*2, and esv2663194 (not annotated) was in LD with CYP2A6*9. rs56113850, rs12461964, and esv2663194 emerged as signals independently associated with NMR in GWAS and in conditional analyses. A fourth signal, rs113288603, was not significant in GWAS, but was significant after conditioning on the top associated SNP, rs56113850.","sentence":"Allele T is associated with decreased clearance of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9610285","article_title":"Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline","article_path":"articles/PMC9610285.md","variant_annotation_id":1451928660,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"rasagiline","pmid":36297437,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"tmax was significant (other values consistent with this) and remained significant after Bonferroni.","sentence":"Genotype AA is associated with decreased clearance of rasagiline in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10501538","article_title":"Genetic polymorphisms of microsomal epoxide hydrolase and UDP-glucuronosyltransferase (UGT) and its effects on plasma carbamazepine levels and metabolic ratio in persons with epilepsy of South India: A cross-sectional genetic association study","article_path":"articles/PMC10501538.md","variant_annotation_id":1452207260,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"carbamazepine","pmid":37555408,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"In EPHX1 c. 337 (T > C) polymorphism, the PWE carrying CC had lower plasma CBZ levels when compared to the CT genotype (2.45 \u03bcg/mL vs. 3.15 \u03bcg/mL) (conversion of the natural logarithm of plasma CBZ to plasma CBZ level using e^lnplasma CBZ level), but not found to be statistically significant between EPHX1 genotypes.\"","sentence":"Genotype CC is associated with decreased dose-adjusted trough concentrations of carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163228,"variant_haplotypes":"rs2237991","gene":"ABCC8","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6179259","article_title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","article_path":"articles/PMC6179259.md","variant_annotation_id":1449748065,"variant_haplotypes":"rs20455","gene":"KIF6","drugs":"simvastatin","pmid":30304062,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. A statistically significant association was seen between genotype and change in c-LDL levels, but no association was seen between genotype and change in c-HDL levels.","sentence":"Genotype GG is associated with decreased response to simvastatin in people with Hypercholesterolemia as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3433845","article_title":"Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success","article_path":"articles/PMC3433845.md","variant_annotation_id":827922003,"variant_haplotypes":"rs680244","gene":"CHRNA5","drugs":"Drugs used in nicotine dependence","pmid":22648373,"phenotype_category":"Other","significance":"yes","notes":"in haplotype analysis; individuals with haplotype 2 (rs16969968 allele G - rs680244 allele T) were more likely to respond to active treatment/ had a lower risk of relapse (ability to quit smoking as measured by time to relapse to smoking over 60 days) than those with haplotype 2 that were treated with placebo. The ability to quit cigarette smoking was not significantly different in individuals with haplotype 1 (rs16969968 allele G - rs680244 allele C) that underwent active treatment compared to placebo (p=0.36).","sentence":"Allele T is associated with increased response to Drugs used in nicotine dependence in people with Tobacco Use Disorder.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3922978","article_title":"Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment","article_path":"articles/PMC3922978.md","variant_annotation_id":1450815085,"variant_haplotypes":"rs813676","gene":"TJP1","drugs":"risperidone","pmid":23241943,"phenotype_category":"Efficacy","significance":"yes","notes":"The number of T alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs711355 and rs785423.","sentence":"Allele T is associated with increased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5478306","article_title":"Correlation of MDR1 gene polymorphisms with anesthetic effect of sevoflurane\u2013remifentanil following pediatric tonsillectomy","article_path":"articles/PMC5478306.md","variant_annotation_id":1448639460,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"remifentanil, sevoflurane","pmid":28614221,"phenotype_category":"Efficacy","significance":"no","notes":"The GG genotype was not associated with visual analog scale scores, time of induction, respiration recovery, eyeopening, and extubation, Ramsay sedation scores Face, Legs, Activity, Cry, Consolability scale (FLACC) scores.","sentence":"Genotype GG is not associated with response to remifentanil and sevoflurane in children with tonsillectomy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Other:tonsillectomy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4915265","article_title":"Variation in Dopamine D2 and Serotonin 5-HT2A Receptor Genes is Associated with Working Memory Processing and Response to Treatment with Antipsychotics","article_path":"articles/PMC4915265.md","variant_annotation_id":1447813766,"variant_haplotypes":"rs6314","gene":"HTR2A","drugs":"olanzapine","pmid":25563748,"phenotype_category":"Efficacy","significance":"yes","notes":"The associations were evaluated in conjunction with rs1076560 in the DRD2 gene. rs1076560 GT/rs6314 CC diplotype was associated with better responses to antipsychotics than the rs1076560 GG/rs6314 CT diplotype","sentence":"Genotype GG is associated with increased response to olanzapine in people with Schizophrenia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5558527","article_title":"A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering","article_path":"articles/PMC5558527.md","variant_annotation_id":1447986147,"variant_haplotypes":"rs17171676","gene":"SUGCT","drugs":"hmg coa reductase inhibitors","pmid":27045730,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was found to be approaching significance in discovery cohort but was not significant in the replication cohort or combined cohorts. Direction of effect and specific allele was not explicitly described in paper.","sentence":"Allele C is associated with response to hmg coa reductase inhibitors as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11152251","article_title":"Effect of SCN1Aand SCN2A gene polymorphisms on the efficacy of valproic acid treatment in Chinese children with epilepsy","article_path":"articles/PMC11152251.md","variant_annotation_id":1452498420,"variant_haplotypes":"rs17183814","gene":"SCN2A","drugs":"valproic acid","pmid":38837984,"phenotype_category":"Efficacy","significance":"yes","notes":"\"However, the situation at the SCN2A rs17183814 locus differs. We observed a significantly higher proportion of individuals with the GG genotype in the VPA responsive group compared to the VPA resistant group (P = 0.025), as depicted in Fig 7. This finding indicates that the GG genotype may be associated with a positive response to VPA treatment. Furthermore, employing the dominant genetic model analysis revealed that the AA+AG genotype was more prevalent in the VPA resistant group than in the responsive group (P = 0.044), further underscoring the potential significance of the rs17183814 locus in predicting VPA treatment outcomes.\"","sentence":"Genotypes AA + AG is associated with increased resistance to valproic acid in children with Epilepsy as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794170,"variant_haplotypes":"rs7853758","gene":"SLC28A3","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype GG is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170929,"variant_haplotypes":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C9","drugs":"tamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003666,"variant_haplotypes":"rs10264272","gene":"CYP3A5, ZSCAN25","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Disease:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4470685","article_title":"Genome-Wide Association Study Identifies Novel Pharmacogenomic Loci For Therapeutic Response to Montelukast in Asthma","article_path":"articles/PMC4470685.md","variant_annotation_id":1444929667,"variant_haplotypes":"rs1364805","gene":null,"drugs":"montelukast","pmid":26083242,"phenotype_category":"Efficacy","significance":"no","notes":"This allele showed a trend toward association but not at the genome wide significance level. Study Cohort: Discovery cohort (N=133): American Lung Association Asthma Clinical Research Center (ALA-ACRC)-supported trials, the Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol Trial (LOCCS) and Effectiveness of Low Dose Theophylline as Add On Therapy for the Treatment of Asthma (LODO) trials. Replication cohort (N=184): Childhood Asthma Research and Education (CARE) Network- Characterizing the Response to a LT Receptor Antagonist and an Inhaled Corticosteroid and Pediatric Asthma Controller Trial (CLIC and PACT).","sentence":"Allele T is associated with increased response to montelukast in people with Asthma as compared to allele G.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":699638963,"variant_haplotypes":"rs730720","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper, since frequencies are close have low confidence in this allele assignment)","sentence":"Allele C is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2750008","article_title":"A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis","article_path":"articles/PMC2750008.md","variant_annotation_id":1444693800,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"adalimumab","pmid":17673491,"phenotype_category":"Efficacy","significance":"yes","notes":"When in a haplotype with rs1799724 and rs361525. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Those homozygous for the GGC (rs361525-rs1800629-rs1799724) haplotype had a significantly lower ACR50 response rate as compared to subjects with any other diplotype (see paper for diplotypes present in population). This effect was more important in a subgroup of patients receiving concomitant methotrexate.","sentence":"Genotype GG is associated with decreased response to adalimumab in people with Arthritis, Rheumatoid.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3214266","article_title":"The interactions of age, genetics, and disease severity on tacrolimus dosing requirements after pediatric kidney and liver transplantation","article_path":"articles/PMC3214266.md","variant_annotation_id":1184998169,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":21698374,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":"In pediatric kidney transplantation recipients, CYP3A5 expressers needed higher tacrolimus dose (0.14 mg/kg vs 0.09 mg/kg/12h) than CYP3A5 non-expressers. CYP3A5 expressers also needed more upward dose changes and had lower median tacrolimus concentration and lower C/D ratios. Multivariate analysis showed youger age and CYP3A5 expresser genotype were independently associated with higher tacrolimus dose requirement.","sentence":"Genotypes CT + TT is associated with increased metabolism of tacrolimus in children with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174878,"variant_haplotypes":"rs1048977","gene":"CDA","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. Although this SNP was not significantly associated with gemcitabine clearance, it was significantly associated with clearance of the gemcitabine metabolite dFdU. Pharmacokinetics of dFdU were described by a three-compartment model.; CDA rs1048977 genotype and creatine clearance were significant covariates in the final model to be predict rate of clearance of dFdU, the deaminated metabolite of gemcitabine.","sentence":"Genotype TT is associated with decreased metabolism of gemcitabine as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747566,"variant_haplotypes":"rs75982813","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"yes","notes":"If the p for the dominant model (0.0239) is adjusted for 4 SNPs tested, it is 0.092 and the association does not reach significance. Blood pressure reduction for the heterozygote (AG) is less than for either of the homozygotes for both systolic and diastolic blood pressure.","sentence":"Genotypes AG + GG are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680831,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles given as G and A","sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC524175","article_title":"Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment","article_path":"articles/PMC524175.md","variant_annotation_id":655387086,"variant_haplotypes":"rs688","gene":"LDLR","drugs":"atenolol","pmid":15453913,"phenotype_category":"Efficacy","significance":"no","notes":"50 mg/day atenolol for twelve weeks. C carriers MAY respond to this. Association was not significant.","sentence":"Genotype CT is associated with response to atenolol in people with Hypertension.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7245057","article_title":"Influences of UGT2B7 rs7439366 and rs12233719 Polymorphisms on Fentanyl Sensitivity in Chinese Gynecologic Patients","article_path":"articles/PMC7245057.md","variant_annotation_id":1451147943,"variant_haplotypes":"rs12233719","gene":"UGT2B7","drugs":"fentanyl","pmid":32401749,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in postoperative fentanyl consumption or VAS scores at 24 hours post-surgery between genotypes. Data was not presented in the paper.","sentence":"Allele T is not associated with response to fentanyl in women with Pain, Postoperative as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8953705","article_title":"STOP Pain Project\u2014Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways","article_path":"articles/PMC8953705.md","variant_annotation_id":1451732680,"variant_haplotypes":"rs1800797","gene":"IL6","drugs":"opioids","pmid":35335997,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of opioids in children with Neoplasms and Pain as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5342450","article_title":"Pharmacogenomics of platinum-based chemotherapy response in NSCLC: a genotyping study and a pooled analysis","article_path":"articles/PMC5342450.md","variant_annotation_id":1448123619,"variant_haplotypes":"rs1799782","gene":"XRCC1","drugs":"Platinum compounds","pmid":27248474,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AA + AG are associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747496,"variant_haplotypes":"rs1008899","gene":"NEDD4L","drugs":"hydrochlorothiazide","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":"(trend)","sentence":"Genotypes AA + AG are associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3837290","article_title":"The effect of rifampicin-based antitubercular therapy and cytochrome P450 2B6 genotype on efavirenz mid-dosing interval concentrations in a South African HIV-infected population","article_path":"articles/PMC3837290.md","variant_annotation_id":1448997483,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":19704172,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6092108","article_title":"SLCO1B1 genetic variation and hormone therapy in menopausal women","article_path":"articles/PMC6092108.md","variant_annotation_id":1449311443,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"conjugated estrogens","pmid":29738412,"phenotype_category":"Efficacy","significance":"no","notes":"No association between genotype and change in symptom scores for hot flashes, insomnia or total symptoms following hormonal therapy was observed.","sentence":"Genotype CT is not associated with response to conjugated estrogens in women with Menopause as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Menopause","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238655,"variant_haplotypes":"rs17070785","gene":"CSMD1","drugs":"olanzapine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele A is associated with response to olanzapine in people with Schizophrenia.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3114195","article_title":"IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-\u03b1 plus ribavirin therapy in Taiwanese chronic HCV infection","article_path":"articles/PMC3114195.md","variant_annotation_id":1444705520,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21346780,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype has decreased association with sustained virological response (SVR).","sentence":"Genotypes GG + GT is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863280,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6089815","article_title":"Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady\u2010state disposition of lamotrigine in adults with epilepsy","article_path":"articles/PMC6089815.md","variant_annotation_id":1449560363,"variant_haplotypes":"rs6755571","gene":"UGT1A4","drugs":"lamotrigine","pmid":29791014,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5763654","article_title":"Monitoring of peripheral blood cluster of differentiation 4+ adenosine triphosphate activity and CYP3A5 genotype to determine the pharmacokinetics, clinical effects and complications of tacrolimus in patients with autoimmune diseases","article_path":"articles/PMC5763654.md","variant_annotation_id":1449172236,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":29375701,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in dose was found between the genotypes.","sentence":"CYP3A5 *1/*1 + *1/*3 is not associated with dose of tacrolimus in people with Autoimmune Diseases as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autoimmune Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5309133","article_title":"A Genome-wide Approach Validates that Thiopurine Methyltransferase Activity is a Monogenic Pharmacogenomic Trait","article_path":"articles/PMC5309133.md","variant_annotation_id":1448268979,"variant_haplotypes":"rs1142345","gene":"TPMT","drugs":"mercaptopurine","pmid":27564568,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with exposure to mercaptopurine in children with Leukemia as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994422,"variant_haplotypes":"rs35303484","gene":"CYP2B6","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Allele also known as CYP2B6*11.","sentence":"Genotype GG is associated with increased concentrations of efavirenz in children with HIV Infections.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491254,"variant_haplotypes":"rs2358531","gene":"SV2C","drugs":"risperidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score. In significant LD (r2 > 0.95) with rs10514062 and rs7732173.","sentence":"Genotype GG is not associated with response to risperidone in people with Schizophrenia as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":699639165,"variant_haplotypes":"rs2267715","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with decreased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874860,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clozapine, n-desmethylclozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP2C19 phenotypes were significantly associated with the metabolic ratio (p\u2009=\u20090.033, Kruskal\u2013Wallis test) at visit 2, with a higher metabolic ratio in PMs (n\u2009=\u20096) than that in NMs and IMs (n\u2009=\u200938) (p\u2009=\u20090.013, Mann\u2013Whitney U test) (S2 Fig).\" \"CYP2C19, 20 patients were NMs (*1/\u2009*\u20091), 19 were intermediate metabolizers (*1/\u2009*\u20092), and six were poor metabolizers (PMs) (*2/\u2009*\u20092). CYP1A2 phenotypes were determined by a combination of two SNPs, namely rs2069514 (c.-3860G\u2009>\u2009A) and rs762551 (c.-9-154C\u2009>\u2009A).\"","sentence":"CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased concentrations of clozapine and n-desmethylclozapine in people with Schizophrenia or Psychotic Disorder as compared to CYP2C19 *1/*1 + *1/*2 (assigned as normal metabolizer and intermediate metabolizer phenotype) .","alleles":"*2/*2","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC4503103","article_title":"S4646 polymorphism in CYP19A1 gene is associated with the efficacy of hormone therapy in early breast cancer","article_path":"articles/PMC4503103.md","variant_annotation_id":1449154515,"variant_haplotypes":"rs4646","gene":"CYP19A1","drugs":"tamoxifen","pmid":26191232,"phenotype_category":"Efficacy","significance":"yes","notes":"Women were on tamoxifen (n=250) or on unnamed aromatase inhibitors (n=37). Disease free survival was compared at 62.7 weeks and 55.6 weeks follow-up for all women for all women, though different week comparisons were used for each significant association that was found. This association was significant in all women combined and the pre-menopausal subset, but had different directions of association in post- and pre-menopausal women.","sentence":"Genotype AA is associated with decreased response to tamoxifen in women with Breast Neoplasms and Menopause as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374150,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":30907440,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2704695","article_title":"Influence of the Cytochrome P450 2B6 Genotype on Population Pharmacokinetics of Efavirenz in Human Immunodeficiency Virus Patients","article_path":"articles/PMC2704695.md","variant_annotation_id":1448997496,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":19433561,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":null,"sentence":"Genotypes GT + TT are associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4169706","article_title":"Genome-wide association analysis of anti-TNF drug response in rheumatoid arthritis patients","article_path":"articles/PMC4169706.md","variant_annotation_id":981483816,"variant_haplotypes":"rs1568885","gene":null,"drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":23233654,"phenotype_category":"Efficacy","significance":"no","notes":"This is one of three SNPs that showed directional consistency of association in 4 cohorts studied, along with improved p value in a 3 stage meta-analysis compared to the first GWAS stage. Since this is an AT SNP which is not mapped to a gene, it is difficult to determine which allele was found to be associated with increased response. p did not reach genome-wide significance.","sentence":"Allele A is associated with response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2515139","article_title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","article_path":"articles/PMC2515139.md","variant_annotation_id":608431827,"variant_haplotypes":"rs10871454","gene":"STX4","drugs":"warfarin","pmid":18535201,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP accounted for ~25% of the variance in stabilized warfarin dose in a GWAS study. It was in perfect linkage disequilibrium (r2=1) with rs9923231 (VKORC1:-1639)","sentence":"Allele T is associated with decreased dose of warfarin.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557938,"variant_haplotypes":"rs2295553","gene":"DDRGK1","drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":"The allele was initially significant did not remain significant after multiple-testing corrections.","sentence":"Allele C is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8530979","article_title":"Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment\u2010Resistant Epilepsy","article_path":"articles/PMC8530979.md","variant_annotation_id":1451553125,"variant_haplotypes":"rs12539","gene":"AOC1","drugs":"cannabidiol","pmid":34464454,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with increased response to cannabidiol in people with Epilepsy as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238720,"variant_haplotypes":"rs2116971","gene":"CDH13","drugs":"perphenazine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: the allele was reported as C (though this gene is found on the plus chromosomal strand). It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to perphenazine in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9875006","article_title":"Effect of GATA3 rs3824662 gene polymorphism in Han Chinese children with pre-B-cell acute lymphoblastic leukemia with 10 years follow-up","article_path":"articles/PMC9875006.md","variant_annotation_id":1452000823,"variant_haplotypes":"rs3824662","gene":"GATA3","drugs":"prednisolone","pmid":36714653,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased clinical benefit to prednisolone in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AC + CC.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4972156","article_title":"Pharmacokinetics of lamotrigine and its metabolite N\u20102\u2010glucuronide: Influence of polymorphism of UDP\u2010glucuronosyltransferases and drug transporters","article_path":"articles/PMC4972156.md","variant_annotation_id":1447983631,"variant_haplotypes":"rs28365063","gene":"UGT2B7","drugs":"lamotrigine","pmid":27096250,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was conducted in 100 patients -- 54 receiving monotherapy for lamotrigine, and 46 receiving combination therapy with carbamazepine, oxcarbazepine, valproic acid, phenytoin, phenobarbital, levetiracetam, topiramate, lacosamide, zonisamide, pregabalin, clonazepam, or clobazam. All patients were on stable therapy for at least 2 months.","sentence":"Genotype GG is associated with increased clearance of lamotrigine in people with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC7214659","article_title":"Impact of SLCO1B1 Genetic Variation on Rosuvastatin Systemic Exposure in Pediatric Hypercholesterolemia","article_path":"articles/PMC7214659.md","variant_annotation_id":1451358200,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"rosuvastatin","pmid":31981411,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CC + CT are associated with increased concentrations of rosuvastatin in children with Hypercholesterolemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121060,"variant_haplotypes":"rs6848893","gene":null,"drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the CT genotype had a decreased subjective 'High Quality' response to oxycodone than subjects with the TT genotype. Authors note that this was an interaction with rs581111.","sentence":"Genotype CT is associated with decreased response to oxycodone as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672980,"variant_haplotypes":"rs374515279","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2810802","article_title":"Pharmacokinetics, metabolism and bioavailability of the triazole antifungal agent voriconazole in relation to CYP2C19 genotype","article_path":"articles/PMC2810802.md","variant_annotation_id":1444842443,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"voriconazole","pmid":20002085,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects with the *1/*1 genotype had significantly decreased area under the concentration-time curve (AUC) and mean residence time (MRT) and significantly increased clearance of voriconazole as compared to those with the *1/*2 or *2/*2 genotype. No significant differences between genotypes were seen when considering maximum plasma concentration (Cmax), time to Cmax (Tmax), terminal elimination half-life (t1/2) or bioavailability.","sentence":"CYP2C19 *1/*1 (assigned as poor metabolizer phenotype) is associated with increased metabolism of voriconazole in healthy individuals as compared to CYP2C19 *1/*2 + *2/*2.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679040,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":34910759,"phenotype_category":"Efficacy","significance":"no","notes":"The T allele was associated with reduced odds of continued opioid use in male patients undergoing MMT. However, this was not significant. No association was found in female patients.","sentence":"Allele T is associated with increased response to methadone in men with Opioid-Related Disorders as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6014560","article_title":"Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes","article_path":"articles/PMC6014560.md","variant_annotation_id":1449295782,"variant_haplotypes":"rs57081354","gene":"NBEA","drugs":"metformin","pmid":29650774,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP is associated with changes in HbA1C when all races are combined.","sentence":"Allele C is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC1995596","article_title":"Exploring joint effects of genes and the clinical efficacy of morphine for cancer pain: OPRM1 and COMT gene","article_path":"articles/PMC1995596.md","variant_annotation_id":731462495,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"morphine","pmid":17156920,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes AG + GG are associated with increased dose of morphine as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109688,"variant_haplotypes":"rs9332131","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele A is associated with dose of warfarin as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC8578201","article_title":"Genetic association of primary non-response to Anti-TNF\u03b1 therapy in patients with Inflammatory Bowel Disease","article_path":"articles/PMC8578201.md","variant_annotation_id":1451934829,"variant_haplotypes":"rs34767465","gene":null,"drugs":"adalimumab, certolizumab pegol, infliximab","pmid":34380996,"phenotype_category":"Efficacy","significance":"no","notes":"rs34767465 associated with primary nonresponse to anti-TNF\u03b1 biologics. odds ratio: 2.07, 95% CI: 1.46\u20132.94, P = 2.43 \u00d7 10-7 , replication odds ratio: 1.8,95% CI, 1.04\u20133.16, P = 0.03","sentence":"Allele T is not associated with response to adalimumab, certolizumab pegol or infliximab in people with Inflammatory Bowel Diseases as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Inflammatory Bowel Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5483245","article_title":"Independent and interactive effects of OPRM1 and DAT1 polymorphisms on alcohol consumption and subjective responses in social drinkers","article_path":"articles/PMC5483245.md","variant_annotation_id":1450826517,"variant_haplotypes":"rs28363170","gene":"SLC6A3","drugs":"ethanol","pmid":28376280,"phenotype_category":"Other","significance":"yes","notes":"This variant is a VNTR; the 'del' allele represented the 9-repeat allele, while the 'GGG...' allele represents the 10-repeat allele. Subjects with the 9-repeat allele had higher Subjective High Assessment Scale (SHAS) scores and higher Drug Effect Questionnaire Visual Analog Scale (DEQ VAS) negative scores across all timepoints compared to subjects carrying the 10-repeat allele. The authors note an epistatic effect, where carriers of both of the 9-repeat allele and the rs1799971 G allele in OPRM1 had the highest SHAS and DEQ VAS negative scores. However, there was no significant association between this variant and BAES score, DEQ VAS positive score or POMS score.","sentence":"Allele del is associated with increased response to ethanol in healthy individuals as compared to allele GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT","comparison_metabolizer_types":null} -{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491434,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As shown by increased plasma concentrations (units = mg/L) for those with the GG genotype compared to those with the AG genotype. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"Genotype GG is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC9914414","article_title":"Association between ADAM33 Single-Nucleotide Polymorphisms and Treatment Response to Inhaled Corticosteroids and a Long-Acting Beta-Agonist in Asthma","article_path":"articles/PMC9914414.md","variant_annotation_id":1452015972,"variant_haplotypes":"rs3918396","gene":"ADAM33","drugs":"corticosteroids, selective beta-2-adrenoreceptor agonists","pmid":36766510,"phenotype_category":"Efficacy","significance":"no","notes":"as measured by FEV1 after three months of ICS+LABA. Alleles complemented to the plus chromosomal strand. \"The SNP rs3918396 (AA genotype) also showed a lower improvement in FVC, but this was not statistically significant due to the fewer patients with that polymorphism.\"","sentence":"Genotype TT is associated with decreased clinical benefit to corticosteroids and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043213,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association was found between changes in cholesterol levels or triglycerides and this SNP.","sentence":"Allele C is not associated with response to pravastatin in children with Hyperlipoproteinemia Type II as compared to allele A.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4387236","article_title":"Genome-wide Association Study of Virologic Response with Efavirenz- or Abacavir-containing Regimens in AIDS Clinical Trials Group Protocols","article_path":"articles/PMC4387236.md","variant_annotation_id":1296598716,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":25461247,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association with virologic failure is found for the combinations of CYP2B6 polymorphisms (rs3745274, rs28399499, and rs4803419).","sentence":"Allele C is not associated with response to efavirenz in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6923423","article_title":"Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects","article_path":"articles/PMC6923423.md","variant_annotation_id":1451164800,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"rosuvastatin","pmid":31857620,"phenotype_category":"Efficacy","significance":"no","notes":"ABCG2 421C>A did not significantly affect the lipid-lowering response of rosuvastatin.","sentence":"Genotypes GT + TT are not associated with response to rosuvastatin as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10909096","article_title":"Association of Cytidine Deaminase Polymorphism with Capecitabine Effectiveness in Breast Cancer Patients","article_path":"articles/PMC10909096.md","variant_annotation_id":1452346561,"variant_haplotypes":"rs532545","gene":"CDA","drugs":"capecitabine","pmid":38156857,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by estradiol E2 levels, however table 4 and text are contradictory. Alleles complemented. \"Concerning rs532545, the mutant (GG) has an; elevated estradiol level (mean +/- SD) of (37.98 \u00b1 3), the; heterozygous (AG) has a value of (33.08 \u00b1 3.72), and; the wild type (AA) has a value of (74.43 \u00b1 14.86), with significant differences between the heterozygous and; mutant and homozygous genotypes.\"","sentence":"Genotype CC is associated with decreased response to capecitabine in women with Breast Neoplasms as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11271148","article_title":"The Influence of CYP2B6 Variants and Administration of Propofol on Patient Outcomes after Traumatic Brain Injury","article_path":"articles/PMC11271148.md","variant_annotation_id":1452554225,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"propofol","pmid":39071983,"phenotype_category":"Toxicity","significance":"yes","notes":"\"No significant interaction between genotype and propofol on patient outcomes after sTBI was found; however, when controlling for propofol, *6 homozygotes had worse outcomes at 3-month GOS. \" GOS = Glasgow Outcome Scale, 1 = death, 2 = persistent vegetative state, 3 = severe disability, 4 = moderate disability, and 5 = good recovery","sentence":"CYP2B6 *6 is associated with decreased response to propofol in people with Brain Injuries as compared to CYP2B6 *1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Brain Injury","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896245,"variant_haplotypes":"rs7051085","gene":"PTCHD1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4078496","article_title":"CYP4F2 1347 G>A & GGCX 12970 C>G polymorphisms: frequency in north Indians & their effect on dosing of acenocoumarol oral anticoagulant","article_path":"articles/PMC4078496.md","variant_annotation_id":1444708155,"variant_haplotypes":"rs11676382","gene":"GGCX","drugs":"acenocoumarol","pmid":24927344,"phenotype_category":"Dosage","significance":"no","notes":"No significant differences in mean weight normalized acenocoumarol doses were found for these GGCX genotypes.","sentence":"Genotype CG is not associated with dose of acenocoumarol as compared to genotype CC.","alleles":"CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11720188","article_title":"Effect of Genetic Variants on Rosuvastatin Pharmacokinetics in Healthy Volunteers: Involvement of ABCG2, SLCO1B1 and NAT2","article_path":"articles/PMC11720188.md","variant_annotation_id":1452808361,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"rosuvastatin","pmid":39796117,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"A significant increase in AUC\u221e/DW (p = 0.004; pmv = 0.001, \u03b2 = 0.398, R2 = 0.264), AUC72h/DW (p < 0.001; pmv = 0.001, \u03b2 = 0.427, R2 = 0.302) and Cmax/DW (p < 0.001; pmv < 0.001, \u03b2 = 0.507, R2 = 0.292) was observed in subjects who were intermediate acetylators (IA) for NAT2, and these parameters were even higher in those who were poor acetylators (PA) compared to rapid acetylators (RA) (Table 3).\" Authors reference CPIc and Dutch guidelines but do not specify which variants were measured.","sentence":"NAT2 slow acetylator and intermediate acetylator is associated with increased dose-adjusted trough concentrations of rosuvastatin in healthy individuals as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator and intermediate acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896239,"variant_haplotypes":"rs291028","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2830602","article_title":"The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men","article_path":"articles/PMC2830602.md","variant_annotation_id":1451114666,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"lopinavir, ritonavir","pmid":20078617,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and trough concentrations of lopinavir or ritonavir in HIV patients treated with lopinavir/ritonavir. Variant referred to in the paper as 388A>G.","sentence":"Allele G is not associated with trough concentration of lopinavir or ritonavir in men with HIV Infections as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5940523","article_title":"Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate","article_path":"articles/PMC5940523.md","variant_annotation_id":1449271184,"variant_haplotypes":"CYP1A2 ultrarapid metabolizer","gene":"CYP1A2","drugs":"buprenorphine, methadone","pmid":29333880,"phenotype_category":"Efficacy","significance":"no","notes":"Response defined by changes in the rate of dropout from treatment between metabolizer phenotypes. Study genotyped for the CYP1A2 variants -3860G>A (rs2069514), -2467T>delT (rs35694136), -739T>G (rs2069526), -729C>T (rs12720461), -163C>A (rs762551), 125C>G (rs72547511), 558C>A (rs72547513), 2116G>A (rs56276455), 2473G>A (rs72547515), 2499A>T (rs72547516), 3497G>A (assumed that this corresponds to rs55889066), 3533G>A (rs56107638), 5090C>T (rs28399424), 5166G>A (rs72547517) and 5347C>T (rs2470890) and then assigned metabolizer phenotypes.","sentence":"CYP1A2 ultrarapid metabolizer is not associated with response to buprenorphine or methadone in people with Opioid-Related Disorders as compared to CYP1A2 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC5249113","article_title":"Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis","article_path":"articles/PMC5249113.md","variant_annotation_id":1448995913,"variant_haplotypes":"rs7574865","gene":"STAT4","drugs":"etanercept","pmid":28107378,"phenotype_category":"Efficacy","significance":"yes","notes":"The degree of response was determined by EULAR score.; A significant association between rs7574865 and response to etanercept was seen at two years after beginning treatment. No significant association was seen at six months after beginning treatment.; No significant associations were seen at either time point when response was measured as number of patients in remission or with low disease activity.","sentence":"Allele T is associated with decreased response to etanercept in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3637851","article_title":"A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer","article_path":"articles/PMC3637851.md","variant_annotation_id":1043858711,"variant_haplotypes":"rs2762939","gene":"CYP24A1","drugs":"calcitriol, cisplatin, docetaxel","pmid":23435876,"phenotype_category":"Efficacy","significance":"no","notes":"No association was seen with overall survival or progression-free survival.","sentence":"Allele G is not associated with response to calcitriol, cisplatin and docetaxel in people with Carcinoma, Non-Small-Cell Lung as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038068,"variant_haplotypes":"rs2542052","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AA + AC are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3093392","article_title":"Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response","article_path":"articles/PMC3093392.md","variant_annotation_id":1451161660,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"methadone","pmid":21589866,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in concentrations of (R)-, (S)- and (R,S)-methadone between genotypes. No details about which specific variants/alleles were tested for.","sentence":"CYP3A5 *3/*3 is not associated with concentrations of methadone in people with Opioid-Related Disorders as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5901893","article_title":"Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC5901893.md","variant_annotation_id":1450930491,"variant_haplotypes":"rs7606603","gene":"XIRP2","drugs":"atenolol","pmid":29650764,"phenotype_category":"Efficacy","significance":"yes","notes":"The C allele was associated with a reduced systolic blood pressure response to atenolol.","sentence":"Allele C is associated with decreased response to atenolol in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8505452","article_title":"Genetic contributions to alcohol use disorder treatment outcomes: a genome-wide pharmacogenomics study","article_path":"articles/PMC8505452.md","variant_annotation_id":1451640186,"variant_haplotypes":"rs77583603","gene":null,"drugs":"acamprosate","pmid":34302059,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with an increased risk of relapse to drinking in patients undergoing acamprosate treatment.","sentence":"Allele G is associated with decreased response to acamprosate in people with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2766479","article_title":"Influence of ABCB1 gene polymorphisms on the pharmacokinetics of verapamil among healthy Chinese Han ethnic subjects","article_path":"articles/PMC2766479.md","variant_annotation_id":982035840,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"verapamil","pmid":19740397,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the GG genotype had lower oral clearance and higher AUC than patients with the AA or AG genotype. This SNP was studied together with rs2032582. Subjects were non-randomly chosen in order to study patients homozygous for the wildtype at both SNPs, heterozygous for both SNPs, and homozygous for the variant at both SNPs.","sentence":"Genotype GG is associated with decreased metabolism of verapamil in healthy individuals as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491417,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As shown by increased plasma concentrations (units = mg/L) for those with the TT genotype compared to those with the GT genotype. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"Genotype TT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4692529","article_title":"A Randomized Trial of Pharmacogenetic Warfarin Dosing in Na\u00efve Patients with Non-Valvular Atrial Fibrillation","article_path":"articles/PMC4692529.md","variant_annotation_id":1448276515,"variant_haplotypes":"CYP4F2*3","gene":"CYP4F2","drugs":"warfarin","pmid":26710337,"phenotype_category":"Dosage","significance":"not stated","notes":"This study assessed whether a pharmacogenetic algorithm, which included this variant as well as the VKORC1 rs9923231, CYP2C9*2 and CYP2C9*3 variants, is superior in overall anticoagulation control when compared to clinical standard of care.","sentence":"CYP4F2 *3 is associated with dose of warfarin.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491430,"variant_haplotypes":"rs8192709","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in plasma concentrations of efavirenz (units = mg/L) were seen between the three genotypes. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment. p-value from univariate analysis with plasma concentration as the dependent variable.","sentence":"Genotype CC is not associated with clearance of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729164,"variant_haplotypes":"rs434606","gene":"CYP2B6","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes AA + AG is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5355968","article_title":"A Study on CYP2C19 and CYP2D6 Polymorphic Effects on Pharmacokinetics and Pharmacodynamics of Amitriptyline in Healthy Koreans","article_path":"articles/PMC5355968.md","variant_annotation_id":1448615861,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"hydroxyamitriptyline","pmid":28296334,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by ratio of amitriptyline to hydroxyamitriptyline. Also ratio of nortriptyline to hydroxynortriptyline was significantly lower for *10/*10 compared to *1/*1 or *1/*10.","sentence":"CYP2D6 *10/*10 is associated with decreased concentrations of hydroxyamitriptyline in healthy individuals as compared to CYP2D6 *1/*1 + *1/*10.","alleles":"*10/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*10","comparison_metabolizer_types":null} -{"pmcid":"PMC4706412","article_title":"A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics","article_path":"articles/PMC4706412.md","variant_annotation_id":1447682722,"variant_haplotypes":"rs1800566","gene":"NQO1","drugs":"warfarin","pmid":26745506,"phenotype_category":"Dosage","significance":"yes","notes":"The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: 1) the derivation cohort was 99% male 2) alleles have been complemented to the + chromosomal strand and 3) \"variables were included in final lin. reg model if p<0.05 or if association with daily warfarin dose was marginally significant 0.05 = p = 0.20 with strong biological plausability\".","sentence":"Genotypes AA + AG are associated with increased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6773496","article_title":"\u03b22-Adrenergic Receptor Gene Affects the Heart Rate Response of \u03b2-Blockers: Evidence From 3 Clinical Studies","article_path":"articles/PMC6773496.md","variant_annotation_id":1451107121,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"atenolol, metoprolol","pmid":31090079,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or Hispanic patients.","sentence":"Allele A is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tachycardia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4297489","article_title":"Association of CD58 Polymorphism with Multiple Sclerosis and Response to Interferon \u00df Therapy in A Subset of Iranian Population","article_path":"articles/PMC4297489.md","variant_annotation_id":1444936314,"variant_haplotypes":"rs12044852","gene":"CD58","drugs":"interferon beta-1a, interferon beta-1b","pmid":25685741,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with relapsing remitting multiple sclerosis. Patients with the CC genotype had a higher increase in mean multiple sclerosis severity score over two years of follow-up, as compared to those with the AA or AC genotype. This SNP was also significantly associated with the occurrence of multiple sclerosis.","sentence":"Genotype CC is associated with decreased response to interferon beta-1a and interferon beta-1b in people with Multiple Sclerosis as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Multiple Sclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC6086578","article_title":"PHARMACOGENETIC EFFECTS OF NALTREXONE IN INDIVIDUALS OF EAST ASIAN DESCENT: HUMAN LABORATORY FINDINGS FROM A RANDOMIZED TRIAL","article_path":"articles/PMC6086578.md","variant_annotation_id":1450928668,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":29265379,"phenotype_category":"Efficacy","significance":"no","notes":"No significant medication x genotype interactions on alcohol craving, subjective response to alcohol or alcohol self-administration.","sentence":"Allele G is not associated with response to naltrexone as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185012354,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"no","notes":"All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. ABCB1 genotype was not significantly associated with C/D of tacrolimus at any time point.","sentence":"Genotype TT is not associated with concentrations of tacrolimus in children with liver transplantation.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4503705","article_title":"IL28B genotype predicts response to chronic hepatitis C triple therapy with telaprevir or boceprevir in treatment na\u00efve and treatment-experienced patients other than prior partial- and null-responders","article_path":"articles/PMC4503705.md","variant_annotation_id":1447676829,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26191484,"phenotype_category":"Efficacy","significance":"yes","notes":"in both na\u00efve patients and treatment-experienced patients. rs12979860-CC was a stronger predictor of SVR12 than rs8099917-TT.","sentence":"Genotype CC is associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1450984482,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"atazanavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"For the haplotype \"1236C/2677G/3435C\" \"subjects with zero CGC copies had faster atazanavir CL/F and lower Cmin compared with individuals with one or two CGC copies\"(complemented to plus chromosomal strand). In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 1-7 (atazanavir alone). By the end of day 7 oral clearance of atazanavir was 0.25, 0.18, 0.17 L/h/kg in people with 0, 1 or 2 copies of the haplotype, respectively. Cmin was 66, 159 and 209 ng/mL in people with 0,1 or 2 copies, respectively.","sentence":"Genotype AA is associated with increased clearance of atazanavir in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002176,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"clopidogrel, clopidogrel thiol metabolite H4","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele T is not associated with exposure to clopidogrel or clopidogrel thiol metabolite H4 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433770,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele A is associated with increased clinical benefit to apremilast in people with Psoriasis as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4595504","article_title":"ITPA Polymorphisms Are Associated with Hematological Side Effects during Antiviral Therapy for Chronic HCV Infection","article_path":"articles/PMC4595504.md","variant_annotation_id":1446905573,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26441325,"phenotype_category":"Efficacy","significance":"no","notes":"The authors actually compared platelet counts between patients with normal or deficient ITPase activity. Patients with the composite genotypes of rs1127354 CC and rs7270101 AA had \"normal ITPase activity\" and all other genotype combinations were classified as \"deficient\". Univariable logistic regression normal ITPase activity was not significantly associated with virological relapse.","sentence":"Genotype CC is not associated with response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC11608742","article_title":"Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes","article_path":"articles/PMC11608742.md","variant_annotation_id":1452725003,"variant_haplotypes":"rs1800058","gene":"ATM","drugs":"metformin","pmid":39612420,"phenotype_category":"Efficacy","significance":"no","notes":"\"Other SNPs (rs4621031, rs34399035, rs1800058, and rs11212617) had no significant impact on metformin response. \" This was not polymorphic (all CC) in this population","sentence":"Allele T is not associated with decreased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5546927","article_title":"The Effect of Gene Variants on Levonorgestrel Pharmacokinetics when Combined with Antiretroviral Therapy containing Efavirenz or Nevirapine","article_path":"articles/PMC5546927.md","variant_annotation_id":1448684673,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"levonorgestrel","pmid":28187506,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients treated with levonorgestrel implant plus efavirenz. The authors hypothesize that the high EFV plasma concentrations associated with these SNPs may result in greater EFV induction of CYP3A4, resulting in increased LNG metabolism and lower LNG exposure in the patients who were heterozygous or homozygous for CYP2B6 516G>T or CYP2B6 15582C>T.","sentence":"Genotypes GT + TT are associated with decreased concentrations of levonorgestrel in women with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613398,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.","sentence":"Allele G is not associated with metabolism of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5866313","article_title":"Genome\u2010Wide Association Approach Identified Novel Genetic Predictors of Heart Rate Response to \u03b2\u2010Blockers","article_path":"articles/PMC5866313.md","variant_annotation_id":1450943622,"variant_haplotypes":"rs2364349","gene":"SNX9","drugs":"atenolol, metoprolol","pmid":29478026,"phenotype_category":"PD","significance":"yes","notes":"as measured by decreased heart rate.","sentence":"Allele A is associated with decreased response to atenolol or metoprolol in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10684410","article_title":"A Phase I, Open-Label, Fixed Sequence Study to Investigate the Effect of Cytochrome P450 2D6 Inhibition on the Pharmacokinetics of Ulotaront in Healthy Subjects","article_path":"articles/PMC10684410.md","variant_annotation_id":1452287642,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"ulotaront","pmid":37882999,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"This genotyping assay solely detects variants; *1(WT),*2, *3, *4, *5, *7, *8, *9, *10, *11, *15, *17, *29,; *35, and *41. Defnitions of normal metabolizer (NM),; intermediate metabolizer, and PM follow Clinical Pharmacogenetics Implementation Consortium\" \"mean; CL/F from PMs was generally lower in comparison with; the mean CL/F from non-PMs \" \"As expected,; CYP2D6 inhibition by paroxetine decreased ulotaront CL/F; to a level approximating ulotaront CL/F in CYP2D6 PMs\" \"Strong CYP2D6 inhibitors are reported; to pheno-covert CYP2D6 NMs into PMs\"","sentence":"CYP2D6 poor metabolizer is associated with decreased clearance of ulotaront in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7968507","article_title":"ABCB1, CYP2B6, and CYP3A4 Genetic Polymorphisms do not Affect Methadone Maintenance Treatment in HCV-positive Patients","article_path":"articles/PMC7968507.md","variant_annotation_id":1451569101,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":33410778,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with metabolism of methadone in men with Heroin Dependence as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5875925","article_title":"Pharmacogenetics of Asthma Controller Treatment","article_path":"articles/PMC5875925.md","variant_annotation_id":1183702665,"variant_haplotypes":"rs8191992","gene":"CHRM2","drugs":"fluticasone/salmeterol","pmid":22370858,"phenotype_category":"Efficacy","significance":"yes","notes":"The \"major\" allele is associated with increased response. It is not clear whether that is A or T on the positive chromosomal strand.","sentence":"Allele A is associated with response to fluticasone/salmeterol in people with Asthma as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003004,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele A is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11524821","article_title":"Evaluation of the role of metabolizing enzymes and transporter variants in ezetimibe pharmacokinetics","article_path":"articles/PMC11524821.md","variant_annotation_id":1452829252,"variant_haplotypes":"rs2273697","gene":"ABCC2","drugs":"ezetimibe","pmid":39484171,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"Volunteers with the ABCC2 rs2273697 A/A genotype showed a; trend to higher Cmax/DW compared to the G/A genotype (puv =; 0.087, pmv = 0.048, \u03b2 = 0.267, R2 = 0.067) (Table 4).\"","sentence":"Genotype AA is associated with increased dose-adjusted trough concentrations of ezetimibe in healthy individuals as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4672523","article_title":"Contribution of BDNF and DRD2 genetic polymorphisms to continued opioid use in patients receiving methadone treatment for opioid use disorder: an observational study","article_path":"articles/PMC4672523.md","variant_annotation_id":1449164221,"variant_haplotypes":"rs1799978","gene":"DRD2","drugs":"methadone","pmid":26437921,"phenotype_category":"Efficacy","significance":"no","notes":"Response to methadone was measured as the number of urine screens which were positive for opioids during methadone treatment.; No participants were found to have the CC genotype.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3396003","article_title":"The Relationship Between Single Nucleotide Polymorphisms in 5-HT2A Signal Transduction-Related Genes and the Response Efficacy to Selective Serotonin Reuptake Inhibitor Treatments in Chinese Patients with Major Depressive Disorder","article_path":"articles/PMC3396003.md","variant_annotation_id":1452039951,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"citalopram, paroxetine, sertraline","pmid":22480177,"phenotype_category":"Efficacy","significance":"no","notes":"Response measure with HAMD.","sentence":"Allele T is not associated with response to citalopram, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767367,"variant_haplotypes":"rs2291834","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3570048","article_title":"Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy","article_path":"articles/PMC3570048.md","variant_annotation_id":981501779,"variant_haplotypes":"rs2234922","gene":"EPHX1","drugs":"carbamazepine","pmid":23252947,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype GG is not associated with clearance of carbamazepine in people with Epilepsy as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4803610","article_title":"Race-specific influence of CYP4F2 on dose and risk of hemorrhage among warfarin users","article_path":"articles/PMC4803610.md","variant_annotation_id":1447952633,"variant_haplotypes":"rs12777823","gene":null,"drugs":"warfarin","pmid":26877068,"phenotype_category":"Dosage","significance":"yes","notes":"in African americans, but not European americans.","sentence":"Genotypes AA + AG are associated with decreased dose of warfarin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4226857","article_title":"Incidence and predictors of regimen-modification from first-line antiretroviral therapy in Thailand: a cohort study","article_path":"articles/PMC4226857.md","variant_annotation_id":1185012177,"variant_haplotypes":"HLA-B*40:01","gene":"HLA-B","drugs":"lamivudine, nevirapine, stavudine","pmid":25361850,"phenotype_category":"Efficacy","significance":"yes","notes":"HLA-B*40:01 was a significant predictor of regimen modification due to treatment failure, with presence of the *40:01 allele leading to a decreased risk of regimen modification due to treatment failure.","sentence":"HLA-B *40:01 is associated with response to lamivudine, nevirapine and stavudine in people with HIV Infections.","alleles":"*40:01","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9934922","article_title":"Impact of polymorphisms in CYP and UGT enzymes and ABC and SLCO1B1 transporters on the pharmacokinetics and safety of desvenlafaxine","article_path":"articles/PMC9934922.md","variant_annotation_id":1452023760,"variant_haplotypes":"CYP2C19 rapid metabolizer","gene":"CYP2C19","drugs":"desvenlafaxine","pmid":36817149,"phenotype_category":"Metabolism/PK","significance":"no","notes":"as measured by increased Cmax. UM were not grouped with RM and had similar Cmax to NM+IM+PM but there were only 2 individuals. Also genotyping only included rs4244285(*2), rs4986893 (*3) and rs12248560 (*17) and did not rule out *4 which is in linkage with *17 in some populations. \"However, none of these associations; remained significant after Bonferroni correction for multiple; comparisons. \"","sentence":"CYP2C19 rapid metabolizer is associated with decreased concentrations of desvenlafaxine in healthy individuals as compared to CYP2C19 normal metabolizer and intermediate metabolizer and poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"rapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer and poor metabolizer"} -{"pmcid":"PMC4892378","article_title":"IL28B gene polymorphisms and viral kinetics in HIV/hepatitis C virus-coinfected patients treated with pegylated interferon and ribavirin","article_path":"articles/PMC4892378.md","variant_annotation_id":981478976,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":21505315,"phenotype_category":"Efficacy","significance":"yes","notes":"These patients were also HIV infected. Treatment was with ribavirin plus peginterferon alfa- 2a or -2b. The increased response was significant for Hepatitis C types 1 and 4 (pooled after no significant differences were found between the two) and was marginal for types 2 and 3. The effect was mainly due to increased viral clearance during the first 12 weeks of treatment. 86 CC; 110 CT or TT.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038075,"variant_haplotypes":"rs2854117","gene":"APOC3","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11160041","article_title":"CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients","article_path":"articles/PMC11160041.md","variant_annotation_id":1448105647,"variant_haplotypes":"rs20572","gene":"CBR1","drugs":"doxorubicin","pmid":19016765,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CC is associated with increased clearance of doxorubicin in people with Breast Neoplasms as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3098751","article_title":"Extending and evaluating a warfarin dosing algorithm that includes CYP4F2 and pooled rare variants of CYP2C9","article_path":"articles/PMC3098751.md","variant_annotation_id":769246303,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":20442691,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased dose of warfarin as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678328,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"In none of the measures that the authors used to measure exposure showed any association with the genotype. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AG is not associated with metabolism of carbamazepine in people with Epilepsy as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483656,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":"Average clearance was about 13% lower in CC than in TT patients.","sentence":"Allele C is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4154311","article_title":"A randomized placebo-controlled trial of ataluren for the treatment of nonsense mutation cystic fibrosis","article_path":"articles/PMC4154311.md","variant_annotation_id":1447952362,"variant_haplotypes":"rs77010898","gene":"CFTR","drugs":"ataluren","pmid":24836205,"phenotype_category":"Efficacy","significance":"no","notes":"Outcomes assessed for all nonsense mutations together (W1282X, G542X, R1162X, and R553X). Case-control study with placebo. Endpoint measured was change in Forced Expiratory Volume in 1 second. A difference was seen in the subset of patients on tobramycin.","sentence":"Allele A is not associated with response to ataluren in people with Cystic Fibrosis as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003343,"variant_haplotypes":"rs10841753","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There is an association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: CT+TT (0.47 (0.09\u201341.63)) vs. CC 0.32 (0.14\u20135.50)).","sentence":"Genotypes CT + TT are associated with decreased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452241167,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Dosage","significance":"yes","notes":"\"In this research, homozygous carriers of the major allele (GG) required less DXM than carriers of the minor allele (GC/CC) (35.49 \u00b1 7.46 vs. 40.08 \u00b1 12.99, p = 0.038). Thus, homozygosity for the major allele G) of ADRA2A rs1800544 may be involved in a higher sensitivity to DXM.\"","sentence":"Genotype GG is associated with decreased dose of dexmedetomidine in people with surgery as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC9657232","article_title":"Th2 Cytokines (Interleukin-5 and -9) Polymorphism Affects the Response to Anti-TNF Treatment in Polish Patients with Ankylosing Spondylitis","article_path":"articles/PMC9657232.md","variant_annotation_id":1451939680,"variant_haplotypes":"rs2069812","gene":"IL5","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":36361964,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by reduction in Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) after 12 weeks treatment. Also as measured by reductions in CRP and VAS scores.","sentence":"Genotypes AA + AG is associated with increased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Spondylitis, Ankylosing as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Spondylitis, Ankylosing","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5904201","article_title":"Influence of APOA5 Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects","article_path":"articles/PMC5904201.md","variant_annotation_id":1449311019,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"atorvastatin","pmid":29695967,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were randomized to receive one of three dose-adjusted statins (N = 65 rosuvastatin, N= 65 atorvastatin, N= 65 simvastatin) and cholesterol (HDL, LDL), triglycerides and free-fatty acids (FFA) were compared between groups before and after statin treatment. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with increased response to atorvastatin in people with Dyslipidaemia as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Dyslipidaemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148561,"variant_haplotypes":"rs6265","gene":"BDNF","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to escitalopram in people with Depression as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407844,"variant_haplotypes":"rs6269","gene":"COMT","drugs":"butorphanol","pmid":31806881,"phenotype_category":"Efficacy","significance":"yes","notes":"Significant difference in pressure pain at the ulna between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotype GG is associated with decreased response to butorphanol in healthy individuals as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3137420","article_title":"A genotype-directed phase I\u2013IV dose-finding study of irinotecan in combination with fluorouracil/leucovorin as first-line treatment in advanced colorectal cancer","article_path":"articles/PMC3137420.md","variant_annotation_id":1448261782,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":21654688,"phenotype_category":"Dosage","significance":"not stated","notes":"This study provided maximum tolerated doses of irinotecan for the *1/*1, *1/*28 and *28/*28 genotypes. The maximum tolerated doses for *1/*1 and *1/*28 were found to be considerably higher than the recommended irinotecan dose of 180 mg/m2, though the maximum tolerated dose for *28/*28 was considerable lower than the recommended dose. Those who received an irinotecan dose of >=260 mg/m2 had a significantly higher response rate as compared to patients who received a dose of <260mg/m2.","sentence":"UGT1A1 *1/*28 + *28/*28 are associated with decreased dose of irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694702,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":25594941,"phenotype_category":"Metabolism/PK","significance":"no","notes":"130 plasma samples were obtained 12 hours after the last dose of warfarin. The plasma warfarin concentrations of these samples were comparing plasma concentration within a group of patients with INR between 1.5\u20132.5 (n = 92) between genotype groups. The relationship between plasma concentration and maintenance dose was evaluated to explore the effect of rs1057910 (CYP2C9) on the pharmacokinetics of warfarin. Within both the low-dosage group (<17.5 mg/w) and the middle-dosage group (17.5\u201326.25 mg/w) the AC genotypes required higher plasma concentration as compared to the AA genotypes although the differences were not statistically significant.","sentence":"Genotype AA is not associated with concentrations of warfarin in people with heart valve replacement as compared to genotype AC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} -{"pmcid":"PMC7028104","article_title":"CYP2B6*6 Genotype Specific Differences in Artemether\u2010Lumefantrine Disposition in Healthy Volunteers","article_path":"articles/PMC7028104.md","variant_annotation_id":1451123300,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"artemether","pmid":31549442,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Subjects with the *6/*6 genotype had a significantly increased metabolic ratio of artemether:dihydroatmemisnin copmared to subjects with the *1/*1 genotype. However, there were no significant differences in any other PK parameters assessed.","sentence":"CYP2B6 *6/*6 is associated with decreased metabolism of artemether in healthy individuals as compared to CYP2B6 *1/*1.","alleles":"*6/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6647927","article_title":"Influence of (ATP)-Binding Cassette Transporter Subfamily B Member 1 (ABCB1) Gene Polymorphism on the Efficacy of Remifentanil","article_path":"articles/PMC6647927.md","variant_annotation_id":1451118697,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"remifentanil","pmid":31346154,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype had significantly longer analepsia time, longer autonomous respiratory recovery time and longer orientation recovery time than patients with the AA genotype.","sentence":"Genotype GG is associated with decreased response to remifentanil as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2754599","article_title":"CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti","article_path":"articles/PMC2754599.md","variant_annotation_id":827704966,"variant_haplotypes":"rs28399433","gene":"CYP2A6","drugs":"efavirenz","pmid":19659438,"phenotype_category":"Metabolism/PK","significance":"no","notes":"As determined by higher plasma levels. Although this association was not statistically significant after Bonferroni correction for multiple comparisons. This polymorphism was described as being in the cyp2a6 promoter region.","sentence":"Genotype AC is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4762905","article_title":"Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia","article_path":"articles/PMC4762905.md","variant_annotation_id":1445297161,"variant_haplotypes":"rs2229109","gene":"ABCB1","drugs":"doxorubicin, methotrexate, prednisolone, vincristine","pmid":25582575,"phenotype_category":"Efficacy","significance":"yes","notes":"In children with high-risk acute lymphoblastic leukemia (ALL; see paper for definition of high risk); no significant results seen for children with low-risk ALL. Risk of relapse was approximately 4-fold greater for those with the CT genotype as compared to those with the CC genotype. Multivariate analysis adjusted for protocol, gender and immunophenotype. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CT is associated with increased resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512548,"variant_haplotypes":"rs1464602","gene":"NR1I2","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the GG, AG, AA genotypes of this SNP. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype GG is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451648740,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Dosage","significance":"no","notes":"Analyzed as part of haplotypes with rs34059508, rs72552763 and rs34130495. No significant association between haplotypes and PCA doses of morphine.","sentence":"Allele T is not associated with dose of morphine in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113812,"variant_haplotypes":"rs3823010","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4616511","article_title":"Combined Effects of 2 Interleukin 28B Polymorphisms on the Therapeutic Outcome of Hepatitis C Patients With Circulating Cryoglobulins","article_path":"articles/PMC4616511.md","variant_annotation_id":1447951892,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"interferons, ribavirin","pmid":26334898,"phenotype_category":"Efficacy","significance":"yes","notes":"Measured according to impact on sustained virological response. Significant only in non-cryoglobulinemic patients. Not significant in cryoglobulinemic patients. GG to TT p = 0.049.","sentence":"Genotype GG is associated with increased response to interferons and ribavirin in people with Hepatitis C as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10527451","article_title":"Population Pharmacokinetics, Pharmacodynamics, and Pharmacogenetics Modeling of Oxypurinol in Hmong Adults with Gout and/or Hyperuricemia","article_path":"articles/PMC10527451.md","variant_annotation_id":1452106280,"variant_haplotypes":"rs12129861","gene":"PDZK1","drugs":"allopurinol","pmid":37202871,"phenotype_category":"Dosage","significance":"not stated","notes":"\"Most individuals with both PDZK1 rs12129861 AA and SLC22A12 rs505802 CC genotypes achieve target SU (with at least 75% success rate) with allopurinol below the maximum dose, regardless of renal function and body mass. In contrast, individuals with both PDZK1 rs12129861 GG and SLC22A12 rs505802 TT genotypes would require more than the maximum dose, thus selecting alternative medications.\"","sentence":"Allele C is associated with increased dose of allopurinol in people with Gout as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Gout","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6313513","article_title":"Impact of Promoter Polymorphisms on the Transcriptional Regulation of the Organic Cation Transporter OCT1 (SLC22A1)","article_path":"articles/PMC6313513.md","variant_annotation_id":1452509960,"variant_haplotypes":"rs6935207","gene":"SLC22A1","drugs":"cycloguanil, fenoterol, sumatriptan","pmid":30544975,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with exposure to cycloguanil, fenoterol or sumatriptan in healthy individuals as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113721,"variant_haplotypes":"rs10485057","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele G is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1184998561,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"atazanavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in individuals who are co-administered ritonavir as a booster. In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 8-14 (atazanavir and ritonavir). Non-expressor status was assigned to CYP3A5 homozygous variants (*3, *6 or *7) and expressor status was assigned to those carrying at least one *1 allele. After the first phase of the study 1 expresser and 4 non-expressers withdrew from, but did not indicate why. There were no significant differences in ritonavir boosted atazanavir oral clearance comparing between CYP3A5 expressers and non-expressers. The only significant differences emerged when comparing within the non-African-American group: the CYP3A5 expresser group had faster CL vs. non-expressers. Note: the authors do not specify which *3 allele patients had and so *3a here represents all *3 alleles.","sentence":"CYP3A5 *3 + *6 + *7 are associated with decreased metabolism of atazanavir in healthy individuals as compared to CYP3A5 *1.","alleles":"*3 + *6 + *7","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679374,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"esomeprazole, lansoprazole, omeprazole, rabeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *2/*2, *2/*3 or *3/*3 genotype. This was a meta-analysis and included 16 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received antibiotics as part of triple therapy: either amoxicillin and clarithromycin, amoxicillin and metronidazole, or amoxicillin and levofloxacin.","sentence":"CYP2C19 *1/*1 is associated with decreased response to esomeprazole, lansoprazole, omeprazole or rabeprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3330749","article_title":"Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study","article_path":"articles/PMC3330749.md","variant_annotation_id":1447519938,"variant_haplotypes":"rs2860905","gene":"CYP2C9","drugs":"warfarin","pmid":19752777,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":655386940,"variant_haplotypes":"rs7793837","gene":"CRHR2","drugs":"salbutamol, selective beta-2-adrenoreceptor agonists","pmid":18408560,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with decreased response to salbutamol and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680047,"variant_haplotypes":"rs77441273","gene":"SLC24A4","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. This association was significant in the initial GWAS (in GALA II). In an attempted replication by imputation in silico in GALA I, there was a consistent direction of effect in Puerto Ricans, but the result was not significant. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype AG is associated with increased response to salbutamol in children with Asthma as compared to genotype GG.","alleles":"AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC1885008","article_title":"Interpatient variability in the pharmacokinetics of the HIV non-nucleoside reverse transcriptase inhibitor efavirenz: the effect of gender, race, and CYP2B6 polymorphism","article_path":"articles/PMC1885008.md","variant_annotation_id":1184512390,"variant_haplotypes":"rs3211371","gene":"CYP2B6","drugs":"efavirenz","pmid":16433869,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Efavirenz plasma concentrations were not significantly different between the CC genotype and CT or the CC genotype and the TT genotype. The T allele was at a significantly lower frequency in Black and Asian patients compared to Caucasian patients.","sentence":"Genotype TT is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6265082","article_title":"Tacrolimus Elimination in Four Patients With a CYP3A5*3/*3 CYP3A4*22/*22 Genotype Combination","article_path":"articles/PMC6265082.md","variant_annotation_id":1449575706,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":29804290,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The TT genotype at rs776746 (CYP3A5 *3/*3) was found along with the AA genotype at rs35599367 (CYP3A4 *22/*22) in 4/1366 kidney transplant recipients. Individuals who were homozygous for both had the highest dose-adjusted trough concentrations of tacrolimus (3.05 ng/ml/mg) and the lowest concentrations of tacrolimus (2.5 mg/day) as compared to patients who carried the rs776746 CC and rs35599367 GG genotypes.","sentence":"Genotype TT is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5558527","article_title":"A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering","article_path":"articles/PMC5558527.md","variant_annotation_id":1447986186,"variant_haplotypes":"rs10455872","gene":"LPA","drugs":"hmg coa reductase inhibitors","pmid":27045730,"phenotype_category":"Efficacy","significance":"yes","notes":"as part of a three SNP genetic risk score with rs2231142 in ABCG2 and rs2075650 in APOE. Associated allele not explicitly stated but methods reference Chasman et al., so used the associated allele from there [PMID:22331829].","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2570505","article_title":"Pharmacokinetic and pharmacogenetic determinants of the activity and toxicity of irinotecan in metastatic colorectal cancer patients","article_path":"articles/PMC2570505.md","variant_annotation_id":1451211800,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"SN-38","pmid":18797458,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association was seen between rs8175347 genotype and the area under the concentration curve (AUC) of SN-38G, the glucuronidated and inactive SN-38 metabolite. UGT1A1 is responsible for the glucuronidation of SN-38.","sentence":"UGT1A1 *1/*28 + *28/*28 are not associated with metabolism of SN-38 in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148566,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to escitalopram in people with Depression as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359420,"variant_haplotypes":"rs10770141","gene":"TH","drugs":"heroin","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of heroin in people with Heroin Dependence as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995758,"variant_haplotypes":"rs2515409","gene":"ANGPT2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4722076","article_title":"Predictive factors for 24\u00a0weeks sustained virologic response (SVR24) and viral relapse in patients treated with simeprevir plus peginterferon and ribavirin","article_path":"articles/PMC4722076.md","variant_annotation_id":1447676770,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, simeprevir","pmid":26264253,"phenotype_category":"Efficacy","significance":"yes","notes":"in treatment-na\u00efve patients and relapsers.","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or simeprevir in people with Hepatitis C as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3845218","article_title":"Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study","article_path":"articles/PMC3845218.md","variant_annotation_id":1183491249,"variant_haplotypes":"rs10514062","gene":"SV2C","drugs":"risperidone","pmid":23886675,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score. In significant LD (r2 > 0.95) with rs7732173 and rs2358531.","sentence":"Genotype TT is not associated with response to risperidone in people with Schizophrenia as compared to genotypes AA + AT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AT","comparison_metabolizer_types":null} -{"pmcid":"PMC2432487","article_title":"Effect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians","article_path":"articles/PMC2432487.md","variant_annotation_id":1183623479,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"omeprazole, pantoprazole","pmid":18241283,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the mean percentage of time with intragastric pH greater than 4.0 was seen between the genotypes in subjects taking omeprazole (20 mg/day) or pantoprazole (40 mg/day). Subjects were treated with either drug for 6 days, in a crossover fashion; mean percentage of time with intragastric pH greater than 4.0 was measured on day 1 and day 6 after initiation of treatment.","sentence":"CYP2C19 *1/*1 is not associated with response to omeprazole or pantoprazole in healthy individuals as compared to CYP2C19 *1/*17.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*17","comparison_metabolizer_types":null} -{"pmcid":"PMC4296935","article_title":"Warfarin Dosage Response Related Pharmacogenetics in Chinese Population","article_path":"articles/PMC4296935.md","variant_annotation_id":1444694638,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":25594941,"phenotype_category":"Dosage","significance":"no","notes":"130 plasma samples were obtained 12 hours after the last dose of warfarin. The plasma warfarin concentrations of these samples were comparing plasma concentration within the group of patients with INR between 1.5\u20132.5 (n = 92). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes CT + TT are not associated with concentrations of warfarin in people with heart valve replacement as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002970,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele C is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10499425","article_title":"Variant\u2010based heritability assessment of dexmedetomidine and fentanyl clearance in pediatric patients","article_path":"articles/PMC10499425.md","variant_annotation_id":1452141740,"variant_haplotypes":"rs114087210","gene":"KCNA3","drugs":"dexmedetomidine","pmid":37353859,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Data from Table S2, direction of effect and risk allele not clear. Minor allele and frequency stated. Mapped to dbSNP using genomic location 1:111239222:A:G on hg19/GRCh37. \"GWAS failed to identify any variants meeting the genome-wide statistical significance threshold of 5\u2009\u00d7\u200910\u22128\" This is top scoring variant.","sentence":"Allele A is associated with decreased clearance of dexmedetomidine in children with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589728,"variant_haplotypes":"rs61742245","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AC are associated with increased dose of warfarin as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5558527","article_title":"A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering","article_path":"articles/PMC5558527.md","variant_annotation_id":1447986178,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"hmg coa reductase inhibitors","pmid":27045730,"phenotype_category":"Efficacy","significance":"yes","notes":"as part of a three SNP genetic risk score with rs10455872 in LPA and rs2075650 in APOE. Associated allele not explicitly stated but methods reference Tomlinson et al. so used the associated allele from there [PMID:20130569].","sentence":"Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11158323","article_title":"CYP2A6 and the plasma level of 5\u2010chloro\u20102, 4\u2010dihydroxypyridine are determinants of the pharmacokinetic variability of tegafur and 5\u2010fluorouracil, respectively, in Japanese patients with cancer given S\u20101","article_path":"articles/PMC11158323.md","variant_annotation_id":827700537,"variant_haplotypes":"CYP2A6*1, CYP2A6*4, CYP2A6*7","gene":"CYP2A6","drugs":"tegafur","pmid":18380793,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Oral clearance. Please note; the allele was described in the study as *4, and here is represented as *4. Also, the 3' UTR conversion of the *7 allele was not mentioned in the study.","sentence":"CYP2A6 *4/*4 + *4/*7 + *7/*7 are associated with decreased clearance of tegafur in people with Neoplasms as compared to CYP2A6 *1/*1.","alleles":"*4/*4 + *4/*7 + *7/*7","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444667028,"variant_haplotypes":"rs1063538","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotypes CC + CT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2276142","article_title":"Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in Rheumatoid Arthritis","article_path":"articles/PMC2276142.md","variant_annotation_id":1448107943,"variant_haplotypes":"rs854547","gene":"PON1","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":18615156,"phenotype_category":"Efficacy","significance":"no","notes":"54 subjects were treated with etanercept, 37 with infliximab, and 25 with adalimumab. Response to therapy was determined by the change in Disease Activity Score (DAS28) observed after 14 wks.","sentence":"Allele A is associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954037,"variant_haplotypes":"rs1801260","gene":"CLOCK","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9820795","article_title":"The MAOA rs979605 Genetic Polymorphism Is Differentially Associated with Clinical Improvement Following Antidepressant Treatment between Male and Female Depressed Patients","article_path":"articles/PMC9820795.md","variant_annotation_id":1451987784,"variant_haplotypes":"rs979605","gene":"MAOA","drugs":"antidepressants","pmid":36613935,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as measured by Hamilton score. \"rs979605(G) allele was correlated with the rs6323(T) allele\" \"The rs979605 \u00d7 sex interaction was significantly associated with the HDRS score, and after 6 months of treatment, a significantly higher HDRS score was observed in female rs979605 AA homozygotes compared to male A carriers.\"","sentence":"Genotype AA is associated with decreased clinical benefit to antidepressants in people with Depressive Disorder, Major as compared to allele A.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11203291","article_title":"Prognostic Role of Human Leukocyte Antigen Alleles and Cytokine Single-Nucleotide Polymorphisms in Patients with Chronic Myeloid Leukemia Treated with Tyrosine Kinase Inhibitor Drugs","article_path":"articles/PMC11203291.md","variant_annotation_id":1452518123,"variant_haplotypes":"HLA-A*03:01","gene":"HLA-A","drugs":"BCR-ABL tyrosine kinase inhibitors","pmid":38927668,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The frequency of A*03 is increased by a factor of 2.3 in the unfavorable group (p-value = 0.0347). \"","sentence":"HLA-A *03:01 is associated with decreased clinical benefit to BCR-ABL tyrosine kinase inhibitors in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive.","alleles":"*03:01","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164032,"variant_haplotypes":"rs11168292","gene":"VDR","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP is in very tight linkage disequilibrium with rs11168293 and rs4760658 (r2>0.97). Mean dose (in mg) of warfarin according to genotype was: GG>CG>CC. p-value adjusted for CYP2C9 metabolizer status and VKORC1 activity status phenotypes, among other factors. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Genotype GG is associated with increased dose of warfarin as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928098,"variant_haplotypes":"rs1056827","gene":"CYP1B1","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"The A allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.","sentence":"Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3735354","article_title":"CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3735354.md","variant_annotation_id":1183698962,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":21790905,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the GG or GT genotype required an increased mean daily methadone dose (mg/day) as compared to those with the TT genotype. Please note that this SNP was found to be in strong LD (D' = 1 and r2 = 0.9) with rs2279343 in this sample population.","sentence":"Genotypes GG + GT are associated with increased dose of methadone in people with Heroin Dependence as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109677,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele A is associated with dose of warfarin as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703573,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving major molecular response (MMR) within 12 months. MMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; MMR was a ratio <= 0.1%. Please note that alleles have been complemented to the plus chromosomal strand, and that this SNP was listed as rs60023214.","sentence":"Genotype GG is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477306,"variant_haplotypes":"rs1029489","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the GG genotype have a reduced frequency of asthma exacerbations compared to those with the AA + AG genotypes. There is also a significant dose-response relationship for this phenotype in subjects with the GG genotype.","sentence":"Genotype GG is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449751996,"variant_haplotypes":"rs4643786","gene":"DCK","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CC + CT is associated with decreased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5521342","article_title":"Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery","article_path":"articles/PMC5521342.md","variant_annotation_id":1449715570,"variant_haplotypes":"rs6851533","gene":"UGT2B7","drugs":"fentanyl","pmid":28256933,"phenotype_category":"Dosage","significance":"no","notes":"There was no significant difference in 24 hour fentanyl use between the genotype groups.","sentence":"Allele T is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2935997","article_title":"The effects of CYP2D6 and CYP3A activities on the pharmacokinetics of immediate release oxycodone","article_path":"articles/PMC2935997.md","variant_annotation_id":1449003184,"variant_haplotypes":"CYP2D6 poor metabolizer genotype","gene":"CYP2D6","drugs":"oxycodone","pmid":20590587,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The half-life of oxycodone was significantly increased in poor metabolizers compared to extensive metabolizers, but there was no significant difference in oxycodone half-life between poor metabolizers and ultrarapid metabolizers.","sentence":"CYP2D6 poor metabolizer is associated with increased exposure to oxycodone in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4590670","article_title":"Optimizing clopidogrel dose response: a new clinical algorithm comprising CYP2C19 pharmacogenetics and drug interactions","article_path":"articles/PMC4590670.md","variant_annotation_id":1448261184,"variant_haplotypes":"CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"clopidogrel","pmid":26445541,"phenotype_category":"Dosage","significance":"not stated","notes":"This study provided a table of dose adjustments for clopidogrel, based on CYP2C19 genotype and interacting drugs metabolized by CYP2C19. It was based on a clopidogrel dose of 75 mg.","sentence":"CYP2C19 *2 + *3 + *17 are associated with dose of clopidogrel.","alleles":"*2 + *3 + *17","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452240955,"variant_haplotypes":"rs16934182","gene":"KCNMA1","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Toxicity","significance":"yes","notes":"as measured by decreased in mean arterial pressure. \"Concerning the hemodynamic effect, we discovered the patients with GA/AA had a greater percent change in MAP than those with GG (\u221223.07 \u00b1 4.41 vs. \u22128.58 \u00b1 9.36, p = 0.009). Therefore, heterozygosity or homozygosity for A allele of KCNMA1 rs16934182 was more sensitive to the cardiovascular effect of DXM.\"","sentence":"Genotypes AA + AG is associated with increased response to dexmedetomidine in people with surgery as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3931261","article_title":"Novel CYP2A6 variants identified in African Americans are associated with slow nicotine metabolism in vitro and in vivo","article_path":"articles/PMC3931261.md","variant_annotation_id":1452442345,"variant_haplotypes":"CYP2A6*1, CYP2A6*39","gene":"CYP2A6","drugs":"nicotine","pmid":24305170,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Association with lower activity of the novel variant groups [CYP2A6*39 (V68M; rs143690364), CYP2A6*40 (I149M), CYP2A6*41 (R265Q; rs140471703), CYP2A6*42 (I268T), CYP2A6*43 (T303I), CYP2A6*44 (E390K; rs376817657), CYP2A6*44 (L462P)] was; tested using a one-way analysis of variance with Bonferroni tests used for post-hoc analysis, P<0.01. A comparison between CYP2A6*1/*1 and; the combined group was tested using an unpaired t-test, ***P<0.001","sentence":"CYP2A6 *39 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1.","alleles":"*39","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3061841","article_title":"The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy","article_path":"articles/PMC3061841.md","variant_annotation_id":769245465,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"aspirin, clopidogrel","pmid":21392617,"phenotype_category":"Efficacy","significance":"yes","notes":"The prevalence of High Platelet Reactivity (HPR) was higher in (AA + AG) compared to GG, but the template doesn't accommodate this. *2 SNP. [stat_test: chi-square]","sentence":"Allele A is associated with decreased response to aspirin and clopidogrel in people with Coronary Artery Disease as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043203,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association was found between PK parameters and this SNP.","sentence":"Allele G is not associated with metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3237821","article_title":"ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS","article_path":"articles/PMC3237821.md","variant_annotation_id":1448567951,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"sirolimus","pmid":22094953,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in log-transformed dose-adjusted trough concentrations (C/D) were seen between the genotypes AA, AG or GG.","sentence":"Allele A is not associated with dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6423619","article_title":"Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19","article_path":"articles/PMC6423619.md","variant_annotation_id":1450935696,"variant_haplotypes":"rs771237265","gene":"CYP2C9","drugs":"tolbutamide","pmid":30745309,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In vitro analysis showed that intrinsic clearance of tolbutamide by CYP2C9 protein containing the C allele was 9.6% of that of the WT protein. Variant referred to as 343A>C in the paper.","sentence":"Allele C is associated with decreased clearance of tolbutamide as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451973940,"variant_haplotypes":"CYP2C19*1, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":"*3 was not significant alone, there were no *3/*3 individuals in the discovery sample set.","sentence":"CYP2C19 *1/*3 is associated with increased resistance to clopidogrel in people with Coronary Disease as compared to CYP2C19 *1/*1.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2596476","article_title":"A GRK5 Polymorphism that Inhibits \u03b2-Adrenergic Receptor Signaling is Protective in Heart Failure","article_path":"articles/PMC2596476.md","variant_annotation_id":827864486,"variant_haplotypes":"rs2230345","gene":"GRK5","drugs":"Beta Blocking Agents","pmid":18425130,"phenotype_category":"Efficacy","significance":"not stated","notes":"P value is comparing with and without drug, not genotypes. When not treated with beta blockers patients with GRK-Q41 have increased risk of death or transplantation compared to patients with GRK-L41. When treated with beta blockers patients with GRK-Q41 showed improvements with beta blockers that brought the Kaplan Meier curve up to the same as that for GRK-L41. When treated with beta blockers patients with the GRK-L41 (TT) did not show any change in outcome.","sentence":"Genotypes AA + AT are associated with response to Beta Blocking Agents in people with Heart Failure as compared to genotype TT.","alleles":"AA + AT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2879959","article_title":"Impact of the CYP2C19*17 Allele on the Pharmacokinetics of Omeprazole and Pantoprazole in Children: Evidence for a Differential Effect","article_path":"articles/PMC2879959.md","variant_annotation_id":1447947241,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"omeprazole","pmid":20223877,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no significant difference in PK parameters in pediatric subjects among those carrying *17, *1 and *2 (*1/*1, *1/*17, *17/*17, *1/*2, *2/*17).","sentence":"CYP2C19 *17 is not associated with increased metabolism of omeprazole in children as compared to CYP2C19 *1 + *2.","alleles":"*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1 + *2","comparison_metabolizer_types":null} -{"pmcid":"PMC9537548","article_title":"A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients","article_path":"articles/PMC9537548.md","variant_annotation_id":1451919000,"variant_haplotypes":"rs28371685","gene":"CYP2C9","drugs":"warfarin","pmid":36210801,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"for S-warfarin stereoisomer in particular, measured as increased S-warfarin/R-warfarin ratio and decreased S-7OH-warfarin/S-warfarin and using a Bonferroni-adjusted replication significance threshold p < 3.21 \u00d7 10\u22124. (CYP2C9*11)","sentence":"Allele T is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation, Other:Venous thromboembolism, Other:Heart Valve Diseases","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359561,"variant_haplotypes":"rs6347","gene":"SLC6A3","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5432414","article_title":"ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia","article_path":"articles/PMC5432414.md","variant_annotation_id":1448432576,"variant_haplotypes":"rs2373586","gene":"ABCB1","drugs":"SN-38","pmid":27845419,"phenotype_category":"Metabolism/PK","significance":"no","notes":"AUC of SN-38 was adjusted for irinotecan dose.","sentence":"Genotypes AC + CC are not associated with exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5562097","article_title":"Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers","article_path":"articles/PMC5562097.md","variant_annotation_id":1448639952,"variant_haplotypes":"rs1902023","gene":"UGT2B15","drugs":"acetaminophen","pmid":28663312,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Metabolism here refers to concentration of acetaminophen protein adducts. The A allele is also referred to as the *2 allele. Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is associated with increased metabolism of acetaminophen in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388236,"variant_haplotypes":"rs2016520","gene":"PPARD","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with dbSNP, actual base not listed in paper, dbSNP changed designation of this allele from G/A to C/T at build 132)","sentence":"Allele C is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003329,"variant_haplotypes":"rs11045879","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: CC +TC (0.50 (0.09\u201341.63)) vs. TT(0.39 (0.12\u201319.88))","sentence":"Genotypes CC + CT are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT.","alleles":"CC + CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10970167","article_title":"PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis","article_path":"articles/PMC10970167.md","variant_annotation_id":1452433750,"variant_haplotypes":"rs295943","gene":"PDE4D","drugs":"apremilast","pmid":38540428,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Allele-based association tests detected 64 SNPs displaying nominal p values < 0.05 (Table 2) including 10 SNPs with p values \u2264 0.01. \" Table 2 shows frequency of minor allele is responders and non-responders. Responder status maybe defined by PASI score improvement greater than 75% after 24\u201336 weeks of treatment.","sentence":"Allele T is associated with decreased clinical benefit to apremilast in people with Psoriasis as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6742943","article_title":"Genomic Association Analysis Reveals Variants Associated With Blood Pressure Response to Beta\u2010Blockers in European Americans","article_path":"articles/PMC6742943.md","variant_annotation_id":1451106148,"variant_haplotypes":"rs45545233","gene":"SLC4A1","drugs":"atenolol, metoprolol","pmid":31033190,"phenotype_category":"Efficacy","significance":"yes","notes":"The grouped CC and CT genotypes were associated with a smaller decrease in diastolic blood pressure in a meta-analysis of patients receiving metoprolol or atenolol monotherapy (discovery cohort) and in patients receiving atenolol addon therapy (replication cohort).","sentence":"Genotypes CC + CT are associated with decreased response to atenolol or metoprolol in people with Hypertension as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928272,"variant_haplotypes":"rs4483927","gene":"HRH4","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566695,"variant_haplotypes":"rs283416","gene":"ADH1C","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele A is associated with metabolism of ethanol.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147625,"variant_haplotypes":"CYP3A4*1, CYP3A4*3, CYP3A4*20, CYP3A4*22","gene":"CYP3A4","drugs":"fesoterodine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Clearance was increased in the presence of CYP3A4 variants. Statistical analysis was not carried out for individual drugs due to the low number of subjects carrying CYP3A4 variants. *3 allele was identified using rs4986910, *20 was identified using rs67666821 and *22 was identified using rs35599367.","sentence":"CYP3A4 *3 + *20 + *22 are associated with increased clearance of fesoterodine in healthy individuals as compared to CYP3A4 *1.","alleles":"*3 + *20 + *22","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002928,"variant_haplotypes":"rs2838958","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"yes","notes":"Although this variant showed a trend of association with response, it was not associated in univariate analysis, but subsequent inclusion in a Cox multivariable regression analysis.","sentence":"Genotype AA is associated with decreased response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452726048,"variant_haplotypes":"rs10234709","gene":"SLC29A4","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs10234709 as top SNP for SLC29A4","sentence":"Allele A is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8975736","article_title":"Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota","article_path":"articles/PMC8975736.md","variant_annotation_id":1451692560,"variant_haplotypes":"rs1056836","gene":"CYP1B1","drugs":"codeine, tramadol","pmid":35102242,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased clinical benefit to codeine or tramadol in men with Pain as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in men with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3726442","article_title":"Relationship between Genotypes Sult1a2 and Cyp2d6 and Tamoxifen Metabolism in Breast Cancer Patients","article_path":"articles/PMC3726442.md","variant_annotation_id":1451097220,"variant_haplotypes":"rs1059491","gene":"SULT1A2","drugs":"4-hydroxytamoxifen, endoxifen","pmid":23922954,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"as part of haplotype *1*1 vs *1/*2 + *2/*2 (rs1136703A>G and rs1059491T>G). Pre and postmenopausal woman with estrogen receptor-positive breast cancer undergoing tam treatment after surgery and chemotherapy/radiation. Patients were excluded if tamoxifen therapy was started with either chemotherapy or radiation.","sentence":"Genotype TT are associated with decreased concentrations of 4-hydroxytamoxifen or endoxifen in women with Breast Neoplasms as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631766,"variant_haplotypes":"rs2289669","gene":"SLC47A1","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele A is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907707,"variant_haplotypes":"rs7254579","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This SNP had a small but significant effect on cyclophosphamide (CPA) metabolite plasma concentrations (4-OH-CPA), but not on CPA concentrations (Bonferroni corrected p-value= 0.0056).","sentence":"Allele C is associated with metabolism of cyclophosphamide in people with Lupus erythematosus as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3044738","article_title":"Response Prediction in Chronic Hepatitis C by Assessment of IP-10 and IL28B-Related Single Nucleotide Polymorphisms","article_path":"articles/PMC3044738.md","variant_annotation_id":982031571,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":21390311,"phenotype_category":"Efficacy","significance":"yes","notes":"Significantly lower baseline plasma levels of IP-10 were associated with this SNP. Lower levels of IP-10 were found to be statistically significantly associated with better treatment outcome. This SNP was found to be in strong linkage disequilibrium with rs8099917.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163235,"variant_haplotypes":"rs5744247","gene":"IL18","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele C is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170899,"variant_haplotypes":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP3A5","drugs":"N-desmethyltamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5534241","article_title":"A Longitudinal HbA1c Model Elucidates Genes Linked to Disease Progression on Metformin","article_path":"articles/PMC5534241.md","variant_annotation_id":1448267848,"variant_haplotypes":"rs2617102","gene":"CSMD1","drugs":"metformin","pmid":27415606,"phenotype_category":"Efficacy","significance":"yes","notes":"using computational model-based approaches and genetic, demographic, and long-term HbA1c data from 1,056 patients.","sentence":"Genotypes AC + CC is associated with decreased response to metformin in people with Diabetes Mellitus as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC10244018","article_title":"Population Pharmacokinetic\u2212Pharmacodynamic Modeling of Carvedilol to Evaluate the Effect of Cytochrome P450 2D6 Genotype on the Heart Rate Reduction","article_path":"articles/PMC10244018.md","variant_annotation_id":1452127920,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*10","gene":"CYP2D6","drugs":"carvedilol","pmid":37272562,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"This population PK\u2212PD analysis also showed that CYP2D6*10/*10 subjects had a 32.7% lower carvedilol CL/F than CYP2D6*1/*1 and *1/*2 subjects.\"","sentence":"CYP2D6 *10/*10 is associated with decreased clearance of carvedilol in healthy individuals as compared to CYP2D6 *1/*1 + *1/*2.","alleles":"*10/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC6989102","article_title":"Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system","article_path":"articles/PMC6989102.md","variant_annotation_id":1450969293,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenytoin","pmid":31461080,"phenotype_category":"Dosage","significance":"yes","notes":"Low-intermediate/poor CYP2C9 genotype was associated with greater odds of having a lower dose by the end of the first year of treatment in the full cohort (OR 1.11; 95% CI: 1.02\u20131.22; P=0.02).","sentence":"CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are associated with decreased dose of phenytoin as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7649675","article_title":"Pharmacogenetics of TNF inhibitor\u00a0response in rheumatoid arthritis utilizing the two-component disease activity score","article_path":"articles/PMC7649675.md","variant_annotation_id":1451293861,"variant_haplotypes":"rs12081765","gene":null,"drugs":"adalimumab, certolizumab pegol, etanercept, infliximab, Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":33124499,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by change in 2C-DAS28. Table 2 shows change was a negative value for this variant suggesting decreased 2C-DAS28 and increased response, it was not attributed to a particular allele at this rs number location so assumed minor allele based on dbSNP.","sentence":"Allele G is associated with increased response to adalimumab, certolizumab pegol, etanercept, infliximab or Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11088557","article_title":"Impact of Viloxazine Extended-Release Capsules (Qelbree\u00ae) on Select Cytochrome P450 Enzyme Activity and Evaluation of CYP2D6 Genetic Polymorphisms on Viloxazine Pharmacokinetics","article_path":"articles/PMC11088557.md","variant_annotation_id":1452446400,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"viloxazine","pmid":38598106,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"The increase in peak and total exposures for CYP2D6 PMs generally fell within the pharmacokinetic variability of CYP2D6 EMs, and the differences observed in PMs are not considered to be clinically relevant.\"","sentence":"CYP2D6 poor metabolizer is associated with increased exposure to viloxazine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4038024","article_title":"CYP3A5 Gene Variation Influences both Systemic and Intrarenal Tacrolimus Disposition","article_path":"articles/PMC4038024.md","variant_annotation_id":1183690032,"variant_haplotypes":"CYP3A5*1, CYP3A5*6","gene":"CYP3A5","drugs":"tacrolimus","pmid":23073208,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the CYP3A5 *1/*1 or *1/*6 (rs10264272) genotype had 1.6-fold higher oral tacrolimus clearance and 2.0 - 2.7-fold higher metabolite/parent area under the curve (AUC) ratios for 31-desmethyl tacrolimus (31-DMT), 12-hydroxytacrolimus, and 13-desmethyl tacrolimus (13-DMT), as compared to individuals with the *6/*6 genotype. Subjects who carry two copies of loss-of-function CYP3A5 alleles (CYP3A5*3/rs776746, CYP3A5*6 or CYP3A5*7/rs41303343) were pooled together as CYP3A5 non-expressors for this analysis. CYP3A5 *1 allele carriers were pooled togethers as CYP3A5 expressors.","sentence":"CYP3A5 *1/*1 + *1/*6 is associated with increased clearance of tacrolimus in healthy individuals as compared to CYP3A5 *6/*6.","alleles":"*1/*1 + *1/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*6/*6","comparison_metabolizer_types":null} -{"pmcid":"PMC2888980","article_title":"A Candidate Gene Analysis of Methylphenidate Response in Attention-Deficit/Hyperactivity Disorder","article_path":"articles/PMC2888980.md","variant_annotation_id":1450372926,"variant_haplotypes":"rs3746544","gene":"SNAP25","drugs":"methylphenidate","pmid":19858760,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele T.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3808494","article_title":"Initial Evidence that Oprm1 Genotype Moderates Ventral and Dorsal Striatum Functional Connectivity During Alcohol Cues","article_path":"articles/PMC3808494.md","variant_annotation_id":1450820473,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":23876228,"phenotype_category":"Efficacy","significance":"not stated","notes":"MRI study. Participants with the AG genotype had increased activation within regions including the right insula, bilateral supramarginal gyri, left precuneus, right superior parietal lobule, right orbitofrontal cortex and right angular gyrus following an alcohol cue than AA participants.","sentence":"Genotype AG is associated with increased response to ethanol in people with Alcoholism as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491511,"variant_haplotypes":"rs3184504","gene":"SH2B3","drugs":"hydrochlorothiazide","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele C is not associated with response to hydrochlorothiazide in people with Hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4876188","article_title":"Association of CYP2C19*2 and associated haplotypes with lower norendoxifen concentrations in tamoxifen\u2010treated Asian breast cancer patients","article_path":"articles/PMC4876188.md","variant_annotation_id":1447741578,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"tamoxifen","pmid":26799162,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors measured levels of tamoxifen and its metabolites (N-desmethyltamoxifen (NDM), (Z)-4-hydroxytamoxifen, (Z)-endoxifen, N,N-Didesmethyltamoxifen (NDDM)) in women with estrogen receptor + breast cancer. Women carried a CYP2C19 *2 allele had significantly lower nor-endoxefin (NorEND) levels (P<0.001), as well as a lower metabolic ratio (MR) of NorEND/(Z)-END (P<0.001) and a lower MR of NorEND /NDDM (P<0.001) as compared to women with the CYP2C19 *1/*1 genotype even after adjusting for age and CYP2D6 metabolizer status.","sentence":"CYP2C19 *2 is associated with decreased metabolism of tamoxifen in women with Breast Neoplasms as compared to CYP2C19 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3139013","article_title":"CYP3A5, ABCB1 and SLCO1B1 Polymorphisms and Pharmacokinetics and Virologic Outcome of Lopinavir/Ritonavir in HIV-infected Children","article_path":"articles/PMC3139013.md","variant_annotation_id":1451114872,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"lopinavir, ritonavir","pmid":21743379,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No association between this variant and virologic suppression in patients treated with lopinavir/ritonavir. Variant referred to in the paper as G2677T.","sentence":"Allele A is not associated with response to lopinavir or ritonavir in children with HIV Infections as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in children with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10409991","article_title":"Effects of CYP3A4*22 polymorphism on trough concentration of tacrolimus in kidney transplantation: a systematic review and meta-analysis","article_path":"articles/PMC10409991.md","variant_annotation_id":1452207060,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":37564175,"phenotype_category":"Dosage","significance":"yes","notes":"\"Therefore, the significant effect of CYP3A4*22 on C0/D and the dose requirement of Tac remained evident even after adjusting for CYP3A5*3.\"","sentence":"CYP3A4 *1/*22 + *22/*22 is associated with decreased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22 + *22/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3797132","article_title":"SLCO1B1 and SLC19A1 Gene Variants and Irinotecan-Induced Rapid Response and Survival: A Prospective Multicenter Pharmacogenetics Study of Metastatic Colorectal Cancer","article_path":"articles/PMC3797132.md","variant_annotation_id":1183697527,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"capecitabine, fluorouracil, irinotecan, leucovorin","pmid":24143213,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were split into two groups based on treatment. One group received irinotecan, fluorouracil, and leucovorin, and the other group received irinotecan and capecitabine. No association was found between this SNP and rapid response rate, progression free survival, or irinotecan-related time to treatment failure.","sentence":"Genotypes CC + CT are not associated with increased response to capecitabine, fluorouracil, irinotecan or leucovorin in people with Colorectal Neoplasms as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4511425","article_title":"Stress and Bronchodilator Response in Children with Asthma","article_path":"articles/PMC4511425.md","variant_annotation_id":1446897318,"variant_haplotypes":"rs34548976","gene":null,"drugs":"adrenergics, inhalants","pmid":25918834,"phenotype_category":"Efficacy","significance":"yes","notes":"For the discovery cohort, 351 children (ages 6\u201314 yr) with asthma (defined as physician-diagnosed asthma and =1 episode of wheeze in the previous yr) were recruited from households in San Juan (Puerto Rico). Replication of our findings for stress and BDR was attempted in 471 children with asthma (ages 7\u201315 yr) living in Rhode Island (n=229; 59 PR, 81 Dominican, and 89 non-Hispanic white children) and Puerto Rico (n=242) (Rhode Island Puerto Rico Asthma Center [RIPRAC] cohort). Finally, children with high child anxiety and BDR were assessed in 87 children (ages 12\u201317 yr) in the National Health and Nutrition Examination Survey (NHANES) in 2007\u20132010.","sentence":"Allele T is associated with decreased response to adrenergics, inhalants in children with Asthma as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11000398","article_title":"Association of CCND1 rs9344 polymorphism with lung cancer susceptibility and clinical outcomes: a case-control study","article_path":"articles/PMC11000398.md","variant_annotation_id":1452445060,"variant_haplotypes":"rs9344","gene":"CCND1","drugs":"pemetrexed, Platinum compounds","pmid":38589850,"phenotype_category":"Efficacy","significance":"yes","notes":"\"However, CCND1 rs9344 was found to be significantly correlated with the platinum-based chemotherapy response of patients who received platinum\u2009+\u2009pemetrexed therapy (additive model: adjusted OR\u2009=\u20091.926, 95%CI\u2009=\u20091.029\u20133.605, P\u2009=\u20090.040; recessive model: adjusted OR\u2009=\u200911.340, 95%CI\u2009=\u20091.428\u201390.100, P\u2009=\u20090.022).\"","sentence":"Allele A is associated with increased clinical benefit to pemetrexed and Platinum compounds in people with Lung Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5176308","article_title":"Influence of Polymorphisms in the HTR3A and HTR3B Genes on Experimental Pain and the Effect of the 5-HT3 Antagonist Granisetron","article_path":"articles/PMC5176308.md","variant_annotation_id":1448995581,"variant_haplotypes":"rs1176744","gene":"HTR3B","drugs":"granisetron","pmid":28002447,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype AA is not associated with response to granisetron in healthy individuals as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375653,"variant_haplotypes":"rs9366772","gene":"HLA-C","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele A is associated with increased response to allopurinol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163067,"variant_haplotypes":"rs4148738","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy for rs2032582 (2677G/T/A ).","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3756535","article_title":"Association of variants in NEDD4L with blood pressure response and adverse cardiovascular outcomes in hypertensive patients treated with thiazide diuretics","article_path":"articles/PMC3756535.md","variant_annotation_id":981747482,"variant_haplotypes":"rs292449","gene":"NEDD4L","drugs":"atenolol","pmid":23353631,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to atenolol in people with Hypertension as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5220536","article_title":"Polymorphisms of the KCNQ1 gene are associated with the therapeutic responses of sulfonylureas in Chinese patients with type 2 diabetes","article_path":"articles/PMC5220536.md","variant_annotation_id":1452876165,"variant_haplotypes":"rs2237895","gene":"KCNQ1","drugs":"gliclazide","pmid":27694910,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Similarly, the rs2237895 C allele was associated with a 2.360-fold decrease in glycated hemoglobin compared with the A allele (95% CI: 1.225\u20134.550, P=0.009).\"","sentence":"Allele C is associated with increased clinical benefit to gliclazide in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928241,"variant_haplotypes":"rs3787429","gene":"HRH3","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to risperidone in people with Schizophrenia as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10463210","article_title":"Pharmacogenetics of 6-mercaptopurine in a black Zimbabwean cohort treated for acute lymphoblastic leukaemia","article_path":"articles/PMC10463210.md","variant_annotation_id":1452121340,"variant_haplotypes":"TPMT*1, TPMT*3C","gene":"TPMT","drugs":"mercaptopurine","pmid":37248698,"phenotype_category":"Dosage","significance":"no","notes":"\"The median 6-MP dose intensity was considerably low (47%) among TPMT*1/*3C individuals (n = 4) compared with TPMT*1/*1 (77%) individuals (n = 19)\" \"TPMT*3C. Other TPMT alleles *2, *3A and *3B were not detected in this study. The NUDT15*1 allele was detected at a frequency of 100%.\"","sentence":"TPMT *1/*3C is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*3C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5903234","article_title":"Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort","article_path":"articles/PMC5903234.md","variant_annotation_id":1449165132,"variant_haplotypes":"rs1867351","gene":"SLC22A1","drugs":"metformin","pmid":29352482,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with exposure to metformin as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449246724,"variant_haplotypes":"rs1043550","gene":"CALU","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele G is not associated with dose of warfarin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4876172","article_title":"Absence of ethnic differences in the pharmacokinetics of moxifloxacin, simvastatin, and meloxicam among three East Asian populations and Caucasians","article_path":"articles/PMC4876172.md","variant_annotation_id":1451352480,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"simvastatin acid","pmid":26774055,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype CT is associated with increased concentrations of simvastatin acid in healthy individuals as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11862786","article_title":"Population pharmacokinetics of tacrolimus whole blood and peripheral blood mononuclear cell concentrations in stable kidney\u2010transplanted patients","article_path":"articles/PMC11862786.md","variant_annotation_id":1452640287,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":39390741,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"CYP3A5 non-expressors had a 46.6% lower CL/F than expressors(Table 2), which is in line with multiple previous models. Additionally, CYP3A5 non-expressors had a 42.4% higher RC:PBMC than expressors, so the difference in PBMC concentrations between an expressor and a non-expressor is even greater than the difference in wholeblood concentrations (Figure 5D)\" RC:PBMC = ratio of tacrolimus whole blood to PBMCconcentration","sentence":"CYP3A5 *3/*3 is associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.","alleles":"*3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157244,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"methadone","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele C is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5051541","article_title":"Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics","article_path":"articles/PMC5051541.md","variant_annotation_id":1452725953,"variant_haplotypes":"rs3127602","gene":"SLC22A3","drugs":"metformin","pmid":25991289,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. \"For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.\" Table 2 shows rs3127602 as top SNP for SLC22A3","sentence":"Allele T is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8553963","article_title":"Influence of Cytochrome P450 2C19 Genotype on Helicobacter pylori Proton Pump Inhibitor-Amoxicillin-Clarithromycin Eradication Therapy: A Meta-Analysis","article_path":"articles/PMC8553963.md","variant_annotation_id":1451581620,"variant_haplotypes":"CYP2C19 normal metabolizer genotype","gene":"CYP2C19","drugs":"amoxicillin, clarithromycin, rabeprazole","pmid":34721043,"phenotype_category":"Efficacy","significance":"no","notes":"\"In contrast, studies that used rabeprazole and esomeprazole showed no significant differences in the RR of failed eradication among the three genotypes\"","sentence":"CYP2C19 normal metabolizer is not associated with decreased clinical benefit to amoxicillin, clarithromycin and rabeprazole in people with Helicobacter Infections as compared to CYP2C19 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Efficacy:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC7217737","article_title":"Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis","article_path":"articles/PMC7217737.md","variant_annotation_id":1451340012,"variant_haplotypes":"CYP2C9*1, CYP2C9*6","gene":"CYP2C9","drugs":"warfarin","pmid":31869433,"phenotype_category":"Dosage","significance":"yes","notes":"In this meta-analysis of warfarin Dose in Black-African Patients, CYP2C9*6 allele is associated with 8.1mg/week less warfarin dose requirement compared to wild-type homozygotes.","sentence":"CYP2C9 *1/*6 is associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*1/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11667419","article_title":"Dual single\u2011nucleotide polymorphism biomarker combination for opioid selection to treat cancer pain","article_path":"articles/PMC11667419.md","variant_annotation_id":1452798160,"variant_haplotypes":"rs17809012","gene":"CCL11","drugs":"morphine","pmid":39720462,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Patients of Group M with the major CCL11 rs17809012 genotype (AA) showed a significantly reduced \u2206NRS (P=0.006), suggesting that oxycodone should be preferred for patients with this genotype of CCL11 to obtain better pain relief. However, for the patients with the minor allele of the rs17809012 (AG/GG), morphine appeared to be a better choice, but this interaction was not statistically significant (P=0.358).\"","sentence":"Genotype AA is associated with decreased clinical benefit to morphine in people with Neoplasms and Pain as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms, Other:Pain","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3656883","article_title":"Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements","article_path":"articles/PMC3656883.md","variant_annotation_id":1185002333,"variant_haplotypes":"rs17878544","gene":"VKORC1","drugs":"acenocoumarol","pmid":23691226,"phenotype_category":"Dosage","significance":"yes","notes":"14 vs 15 mg/week.","sentence":"Genotype TT is associated with decreased dose of acenocoumarol as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4490522","article_title":"Pharmacogenomics of Methotrexate Membrane Transport Pathway: Can Clinical Response to Methotrexate in Rheumatoid Arthritis Be Predicted?","article_path":"articles/PMC4490522.md","variant_annotation_id":1444843349,"variant_haplotypes":"rs11231809","gene":"SLC22A11","drugs":"methotrexate","pmid":26086825,"phenotype_category":"Efficacy","significance":"yes","notes":"SLC22A11 rs11231809 T carrier is associated with increased risk of non-response to methotrexate.","sentence":"Genotypes AT + TT are associated with decreased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype AA.","alleles":"AT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC11244643","article_title":"ANO2 Genetic Variants and Anti-VEGF Treatment Response in Neovascular AMD: A Pharmacogenetic Substudy of VIEW 1 and VIEW 2","article_path":"articles/PMC11244643.md","variant_annotation_id":1452533923,"variant_haplotypes":"rs2110166","gene":"ANO2","drugs":"aflibercept, ranibizumab","pmid":38980270,"phenotype_category":"Efficacy","significance":"yes","notes":"\"In the pharmacogenetic study population, 50 patients had the rs2110166 TC genotype and 684 patients had the TT genotype; only one patient had the CC genotype.\" \"Further regional plot analysis (Fig. 2) identified the ANO2 rs2110166 SNP as highly significantly associated with losing \u22655 ETDRS letters during anti-VEGF therapy in nAMD (P = 1.99 \u00d7 10\u20138).\" \"Carriers of the ANO2 rs2110166 TT genotype showed a robust increase in visual acuity versus baseline compared with a small decrease in those with the TC genotype.\"","sentence":"Genotype TT is associated with increased clinical benefit to aflibercept or ranibizumab in people with Macular Degeneration as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC2950972","article_title":"Effects of Opioid Receptor Gene Variation on Targeted Nalmefene Treatment in Heavy Drinkers","article_path":"articles/PMC2950972.md","variant_annotation_id":1449161519,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"nalmefene","pmid":18537939,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to nalmefene in people with Alcoholism as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4613195","article_title":"Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation","article_path":"articles/PMC4613195.md","variant_annotation_id":1448100023,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"mycophenolic acid","pmid":26307985,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Concentrations measured as trough blood drug concentrations.","sentence":"Genotype AA is associated with decreased concentrations of mycophenolic acid in people with lung transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7655626","article_title":"Pharmacogenetic Interactions of Rifapentine plus Isoniazid with Efavirenz or Nevirapine","article_path":"articles/PMC7655626.md","variant_annotation_id":1451308140,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"rifapentine","pmid":32815870,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"NAT2 slow acetylators had greater week 4 plasma concentrations of rifapentine (P = 2.6 \u00d7 10) and 25-desacetyl rifapentine (P = 7.0 \u00d7 10) among all participants, and in efavirenz and nevirapine subgroups.","sentence":"NAT2 slow acetylator is associated with increased concentrations of rifapentine in people with HIV Infections.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3370715","article_title":"Population Pharmacokinetic Analysis and Pharmacogenetics of Raltegravir in HIV-Positive and Healthy Individuals","article_path":"articles/PMC3370715.md","variant_annotation_id":1184997887,"variant_haplotypes":"UGT1A9*3a","gene":"UGT1A9","drugs":"raltegravir","pmid":22371894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Out of ninety-six SNPs tested for their effect on bioavailability of raltegravir only rs72551330 (T>C) reached Bonferroni-corrected significance (set at 5.21 x 10^-4). The authors state that the effect of the SNP on raltegravir bioavailbility is mainly attributable to a single homozygous individual with very high raltegravir bioavialbility. The SNP could not be validated in a data set including 219 HIV positive patients and 19 healthy volunteers.","sentence":"UGT1A9 *3a is associated with increased exposure to raltegravir in people with HIV.","alleles":"*3a","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5606007","article_title":"Novel variants in NUDT15 and thiopurine intolerance in children with acute lymphoblastic leukemia from diverse ancestry","article_path":"articles/PMC5606007.md","variant_annotation_id":1448635132,"variant_haplotypes":"rs746071566","gene":"NUDT15","drugs":"mercaptopurine","pmid":28659275,"phenotype_category":"Dosage, Toxicity","significance":"not stated","notes":"The variant was in 3 patients at St Jude's. One patient tolerated 43.5 mg/m2/day of mercaptopurine during the maintenance phase, The second patient was treated on the TOT XIIIB protocol, for which maintenance therapy consisted of drug pairs administered in weekly rotation and mercaptopurine given for only 1 week every 4-week period but did not experience significant toxicity and tolerated dosage was 82.5 mg/m2/day for that week. In the 3rd patient, the variant was present along with rs116855232 C>T, and another variant with no rsID (K35E c.103A>G). Nucleotide diphosphotase activity could not be detected in in vitro studies.","sentence":"Allele del is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele GGAGTC.","alleles":"del","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGAGTC","comparison_metabolizer_types":null} -{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863300,"variant_haplotypes":"rs2372536","gene":"ATIC","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3880259","article_title":"Association of ABCC2 \u221224C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia","article_path":"articles/PMC3880259.md","variant_annotation_id":1184175525,"variant_haplotypes":"rs3740065","gene":"ABCC2","drugs":"methotrexate","pmid":24404132,"phenotype_category":"Metabolism/PK","significance":"no","notes":"All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.","sentence":"Allele G is not associated with clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4169411","article_title":"Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers","article_path":"articles/PMC4169411.md","variant_annotation_id":1184886917,"variant_haplotypes":"rs13181","gene":"ERCC2","drugs":"fluorouracil, leucovorin, oxaliplatin","pmid":25232828,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasm of esophagus, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452027048,"variant_haplotypes":"rs2860840","gene":"CYP2C18","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared with the reference group (CYP2C19*1/*1), a lower sertraline serum concentration was observed in CYP2C19*17/*17 (21.6% decrease, n = 44, p = 0.003), CYP2C:TG/CYP2C:TG (rs2860840 and rs11188059 together; 21.2% decrease, n = 26, p = 0.022), CYP2C19*17/ CYP2C:TG (20.0% decrease, n = 65, p = 0.003), and CYP2C19*1/*17 (17.0% decrease, n = 150, p < 0.001) patients, while no significant impact of CYP2C19*1/ CYP2C:TG genotype was detected in this patient population (n = 142, p > 0.1).","sentence":"Genotype TT is associated with decreased concentrations of sertraline as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370774,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"CYP2C9 *2 is not associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5590735","article_title":"Genetic variants in CYP2B6 and CYP2A6 explain interindividual variation in efavirenz plasma concentrations of HIV-infected children with diverse ethnic origin","article_path":"articles/PMC5590735.md","variant_annotation_id":1448994431,"variant_haplotypes":"rs28399499","gene":"CYP2B6","drugs":"efavirenz","pmid":28886044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This is stated in the paper, but supporting data is not shown.; Allele also known as CYP2B6*18.","sentence":"Allele C is not associated with concentrations of efavirenz in children with HIV Infections as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680877,"variant_haplotypes":"rs3814057","gene":"NR1I2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype AA is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4137828","article_title":"Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients","article_path":"articles/PMC4137828.md","variant_annotation_id":1184470904,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"tacrolimus","pmid":24528196,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"3 - 12 months post-transplant. In multivariate linear regression analysis, the AAA/AAA haplotype (rs1045642, rs1128503, rs2032582) showed a significant effect on dose-adjusted trough concentrations (C0/D) of tacrolimus (those with the AAA/AAA haplotype have increased C0/D compared to those with non-AAA/AAA haplotypes). In chi-squared analyses, no significant association was seen for trough concentrations or dose. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with decreased clearance of tacrolimus in people with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767402,"variant_haplotypes":"rs2088514","gene":"MIA3","drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele G is not associated with trough concentration of vancomycin as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC8373649","article_title":"SNPs in PRKG1 and SPATA13-AS1 are associated with bronchodilator response: A pilot study during acute asthma exacerbations in African American children","article_path":"articles/PMC8373649.md","variant_annotation_id":1451927500,"variant_haplotypes":"rs7903366","gene":null,"drugs":"salbutamol","pmid":33851947,"phenotype_category":"Efficacy","significance":"yes","notes":"rs7903366 was significantly negatively associated with having a high bronchodilator response category in an adjusted analysis. Risk allele not explicit stated in text only in table 1 summarizing prior studies.","sentence":"Allele T is associated with decreased response to salbutamol in children with Asthma as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4461653","article_title":"ST13 polymorphisms and their effect on exacerbations in steroid-treated asthmatic children and young adults","article_path":"articles/PMC4461653.md","variant_annotation_id":1447944114,"variant_haplotypes":"rs138335","gene":"ST13","drugs":"corticosteroids","pmid":25616159,"phenotype_category":"Efficacy","significance":"yes","notes":"Outcome measured was hospital visits for airway exacerbation. Effect is additive, measured per G allele.","sentence":"Allele G is associated with decreased response to corticosteroids in children with Asthma as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4594699","article_title":"Population pharmacokinetic analysis of tacrolimus in Mexican paediatric renal transplant patients: role of CYP3A5 genotype and formulation","article_path":"articles/PMC4594699.md","variant_annotation_id":1444934203,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":25846845,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Population pharmacokinetic modeling. CYP3A5*1/*1 and *1/*3 carriers (CYP3A5 expressers) had approximately 2- and 1.5-fold higher clearance, respectively, as compared to CYP3A5*3/*3 carriers (CYP3A5 non-expressers). The authors also note that CYP3A5 genotype explained almost the entire inter-patient variability in clearance. Lastly, they note that individuals taking Limustin had significantly higher predicted doses of tacrolimus for all genotypes as compared to those taking Prograf (p<0.001).","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased clearance of tacrolimus in children with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814229,"variant_haplotypes":"rs7170068","gene":"CHRNA3","drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. This SNP was detected as a residual association after accounting for rs16969968.","sentence":"Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5003027","article_title":"TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics","article_path":"articles/PMC5003027.md","variant_annotation_id":1447979349,"variant_haplotypes":"rs11580409","gene":"ERICH3","drugs":"antidepressants, citalopram, escitalopram","pmid":26903268,"phenotype_category":"Efficacy","significance":"yes","notes":"This is one of SNP in a cluster (rs11580409 and rs11210490 and rs696692) that showed some association with plasma serotonin concentrations and was suspected to be associated with SSRI clinical response. Please note that the allele associated with clinical response was not specified in the paper. In a follow up paper (PMID: 33230203), the author stated that \"the rs11580409 variant allele (C) was significantly associated with better response\" and and demonstrated its association in another population of depressed patients (PReDICT) as well as its overall significance in a meta-analysis.","sentence":"Allele C is associated with increased response to antidepressants, citalopram and escitalopram in people with Depressive Disorder as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5678480","article_title":"Early Improvement and Marriage Are Determinants of the 12-Month Treatment Outcome of Paroxetine in Outpatients with Panic Disorder","article_path":"articles/PMC5678480.md","variant_annotation_id":1452054620,"variant_haplotypes":"SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)","gene":"SLC6A4","drugs":"paroxetine","pmid":29073750,"phenotype_category":"Efficacy","significance":"no","notes":"The 5-HTTLPR was not associated with significant differences in early improvement in patients with panic disorder receiving paroxetine.","sentence":"SLC6A4 HTTLPR long form (L allele) is not associated with response to paroxetine in people with Panic Disorder as compared to SLC6A4 HTTLPR short form (S allele).","alleles":"HTTLPR long form (L allele)","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Panic Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"HTTLPR short form (S allele)","comparison_metabolizer_types":null} -{"pmcid":"PMC4628029","article_title":"CYP3A5 and ABCB1 genotype influence tacrolimus and sirolimus pharmacokinetics in renal transplant recipients","article_path":"articles/PMC4628029.md","variant_annotation_id":1447520853,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"sirolimus, tacrolimus","pmid":26543771,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No associations with tacrolimus or sirolimus pharmacokinetic parameters were seen for this SNP. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with metabolism of sirolimus or tacrolimus in people with Kidney Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4209173","article_title":"Pharmacogenetics of warfarin in a paediatric population: Time in therapeutic range, initial and stable dosing, and adverse effects","article_path":"articles/PMC4209173.md","variant_annotation_id":1184473580,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":25001883,"phenotype_category":"Dosage","significance":"yes","notes":"with an approximate decrease of daily dose of 0.66mg.","sentence":"Allele T is associated with decreased dose of warfarin in children as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3786668","article_title":"Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate","article_path":"articles/PMC3786668.md","variant_annotation_id":827786987,"variant_haplotypes":"rs1046428","gene":"GSTZ1, POMT2","drugs":"dichloroacetic acid","pmid":21642471,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":"The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the most rapid clearance was observed for subjects having at least one \"wild-type\" allele (G for rs7975,G for rs7972, C for rs1046428. Rate was 2.2 +/- 0.7 vs 0.73 +/- 0.84 mL/min, and the very highest rate was seen in homozygous \"wild-type\".","sentence":"Allele C is associated with increased clearance of dichloroacetic acid in healthy individuals.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166351,"variant_haplotypes":"rs1061115","gene":"PYROXD2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472416,"variant_haplotypes":"rs61742245","gene":"VKORC1","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele A is not associated with dose of warfarin as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5563830","article_title":"Association of ABCB1 Gene Polymorphisms with Efficacy and Adverse Reaction to Risperidone or Paliperidone in Han Chinese Schizophrenic Patients","article_path":"articles/PMC5563830.md","variant_annotation_id":1448604042,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"risperidone","pmid":27456824,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles given as reverse strand C and T. Efficacy measured with reduction in PANSS total score reduced rate.","sentence":"Genotypes AG + GG are not associated with response to risperidone in people with Schizophrenia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC11887348","article_title":"CYP2D6 polymorphisms and endoxifen concentration in Chinese patients with breast cancer","article_path":"articles/PMC11887348.md","variant_annotation_id":1452872682,"variant_haplotypes":"CYP2D6 normal metabolizer","gene":"CYP2D6","drugs":"endoxifen","pmid":40050768,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Endoxifen concentration was not significantly different among different AS groups (p\u2009=\u20090.106)...And the median endoxifen concentration was higher in CYP2D6 phenotype NM (18ng/ml, 95%CI 18\u201324 ng/ml) than in IM (13ng/ml, 95%CI 13\u201318 ng/ml, p\u2009=\u20090.0077, Fig. 2). A similar situation was found with MRE/Tam (p\u2009<\u20090.0001).\"","sentence":"CYP2D6 normal metabolizer is associated with increased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer"} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002987,"variant_haplotypes":"rs1131596","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele G is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982037995,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AG + GG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4115247","article_title":"GENETIC VARIATION IN CYP4A11 AND BLOOD PRESSURE RESPONSE TO MINERALOCORTICOID RECEPTOR ANTAGONISM OR ENAC INHIBITION: AN EXPLORATORY PILOT STUDY IN AFRICAN AMERICANS","article_path":"articles/PMC4115247.md","variant_annotation_id":1450821112,"variant_haplotypes":"rs3890011","gene":"CYP4A11","drugs":"amiloride","pmid":25064769,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was in complete disequilibrium with rs1126742. Alleles are reported as described in the paper however, because this is a G/C SNP, users should be aware that there is ambiguity as to whether the alleles are reported as on the positive strand. Patients in all genotype groups showed a similar reduction in systolic and diastolic blood pressure with amiloride treatment.","sentence":"Allele C is not associated with response to amiloride in people with Hypertension as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934431,"variant_haplotypes":"rs28935195","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Ala156Thr in the paper.","sentence":"Allele T is associated with increased response to migalastat in people with Fabry Disease.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359472,"variant_haplotypes":"rs1611114","gene":"DBH","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729440,"variant_haplotypes":"rs141257984","gene":"UGT2B7","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotype GT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5505550","article_title":"Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9","article_path":"articles/PMC5505550.md","variant_annotation_id":1448820088,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"piroxicam","pmid":28740425,"phenotype_category":"Efficacy","significance":"not stated","notes":"Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.","sentence":"Allele C is not associated with response to piroxicam as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163265,"variant_haplotypes":"rs7311358","gene":"SLCO1B3","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. Authors described association as suggestive in the AA population but it did not survive multiple testing correction and the authors did not state which allele was the associated allele.","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436907,"variant_haplotypes":"rs1042713","gene":"ADRB2","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4368615","article_title":"The CYP19 RS4646 Polymorphism IS Related to the Prognosis of Stage I\u2013II and Operable Stage III Breast Cancer","article_path":"articles/PMC4368615.md","variant_annotation_id":1444702613,"variant_haplotypes":"rs4646","gene":"CYP19A1","drugs":"anastrozole, letrozole, tamoxifen","pmid":25793413,"phenotype_category":"Efficacy","significance":"yes","notes":"Median follow up time was 96 months and the association was with disease free survival (DFS). Overall there was no difference in DFS by genotype, however when women were split into the pre-menopausal and post-menopausal group, an association was seen between the AA genotype and DFS, but in opposite directions. The AA genotype was associated with shorter DFS in the post-menopausal women and longer DFS in the pre-menopausal women when compared to the AC and CC genotypes (13.7 months in post-menopausal AA women, and 56.3 months in post-menopausal AC+CC women). Chemotherapy included Cyclophosphamide, Doxorubicin/epirubicin and Fluoracil or Doxorubicin, Cyclophosphamide with/without docetaxel, Cyclophosphamide, Epirubicin or Doxorubicin, Cyclophosphamide followed by Docetaxel or weekly Paclitaxel, CAF (Cyclophosphamide, Doxorubicin/Epirubicin and Fluoracil) followed by Docetaxel or weekly Paclitaxel treatment and others, 10 (2.5%) remained unknown.","sentence":"Genotype AA is associated with decreased response to anastrozole, letrozole or tamoxifen in women with Breast Neoplasms and Menopause as compared to genotypes AC + CC.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AC + CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479707,"variant_haplotypes":"rs472660","gene":"CYP3A43","drugs":"ziprasidone","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele A is not associated with increased clearance of ziprasidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4345005","article_title":"Effects of GRK5 and ADRB1 polymorphisms influence on systolic heart failure","article_path":"articles/PMC4345005.md","variant_annotation_id":1451843594,"variant_haplotypes":"rs1801253","gene":"ADRB1","drugs":"Beta Blocking Agents","pmid":25638254,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients with systolic heart failure with the rs1801253 CC and CG genotypes show better response to beta-blockers than patients with the GG genotype as measured by systolic heart failure morbidity. The authors measured association of each genotype individually with drug response.","sentence":"Genotype GG is associated with decreased response to Beta Blocking Agents in people with Heart Failure as compared to genotypes CC + CG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CG","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613474,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.","sentence":"Allele G is not associated with dose of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6980920","article_title":"Early Tacrolimus Concentrations After Lung Transplant are Predicted by Combined Clinical and Genetic Factors and Associated with Acute Kidney Injury","article_path":"articles/PMC6980920.md","variant_annotation_id":1451118280,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":31513279,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The CYP3A4*22 loss of function allele was associated with a 14.6% increase in CDR, but this estimate was nonsignificant.","sentence":"CYP3A4 *22 is associated with decreased metabolism of tacrolimus in people with lung transplantation as compared to CYP3A4 *1/*1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC11102648","article_title":"The pharmacokinetics and pharmacodynamics of ibogaine in opioid use disorder patients","article_path":"articles/PMC11102648.md","variant_annotation_id":1452427680,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"ibogaine","pmid":38519421,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"As expected, the clearance of ibogaine to noribogaine was significantly (p < 0.0001) associated with the CYP2D6 AS, shown in Figure 2. The basic clearance (at an AS of 0) of ibogaine was estimated to be 0.82 L/h, but this increased to 30.7 L/h for every point of AS (Figure 2 and Supplemental Material). \"","sentence":"CYP2D6 poor metabolizer is associated with decreased clearance of ibogaine in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2291379","article_title":"Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants","article_path":"articles/PMC2291379.md","variant_annotation_id":1451288740,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"Selective serotonin reuptake inhibitors","pmid":18070221,"phenotype_category":"Dosage","significance":"yes","notes":"(*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) SSRIs were grouped together for this analysis (32.5 % of patients were taking paroxetine; 13.4% fluvoxamine;11.6% fluoxetine; 7.3% sertraline;4.6% citalopram;0.1% escitalopram. Mean SSRI dose was significantly lower at the 3rd prescription (difference 0.17 DDD) but not significant for the following prescriptions. Genotypes were not in Hardy-Weinberg equilibrium; frequency below is for a larger population that included patients treated with other antidepressants.","sentence":"CYP2D6 *4/*4 is associated with decreased dose of Selective serotonin reuptake inhibitors in people with Depression as compared to CYP2D6 *1/*1.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6742943","article_title":"Genomic Association Analysis Reveals Variants Associated With Blood Pressure Response to Beta\u2010Blockers in European Americans","article_path":"articles/PMC6742943.md","variant_annotation_id":1451106140,"variant_haplotypes":"rs294610","gene":null,"drugs":"atenolol, metoprolol","pmid":31033190,"phenotype_category":"Efficacy","significance":"yes","notes":"The A allele was associated with a greater decrease in diastolic blood pressure in patients receiving metoprolol monotherapy (discovery cohort) or atenolol monotherapy (replication cohort). Note that this SNP reached a level of suggestive significance but not genome-wide significance in the discovery cohort.","sentence":"Allele A is associated with increased response to atenolol or metoprolol in people with Hypertension as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5818817","article_title":"Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial","article_path":"articles/PMC5818817.md","variant_annotation_id":1449269199,"variant_haplotypes":"rs1799853","gene":"CYP2C9","drugs":"warfarin","pmid":28973620,"phenotype_category":"Dosage","significance":"not stated","notes":null,"sentence":"Allele T is associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4762905","article_title":"Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia","article_path":"articles/PMC4762905.md","variant_annotation_id":1445297172,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"doxorubicin, methotrexate, prednisolone, vincristine","pmid":25582575,"phenotype_category":"Efficacy","significance":"yes","notes":"The risk of relapse was reduced for those with the AA genotype as compared to those with the GG genotype. Multivariate analysis adjusted for risk, immunophenotype, protocol and gender. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with decreased resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} diff --git a/data/benchmark/true_variant_list.json b/data/benchmark/true_variant_list.json deleted file mode 100644 index 8ba4e02..0000000 --- a/data/benchmark/true_variant_list.json +++ /dev/null @@ -1,57185 +0,0 @@ -{ - "PMC5712579": [ - { - "variant_id": "HLA-B*35:08", - "gene": "HLA-B", - "allele": "*35:08" - }, - { - "variant_id": "HLA-B*39:01", - "gene": "HLA-B", - "allele": "*39:01" - }, - { - "variant_id": "HLA-B*15:02", - "gene": "HLA-B", - "allele": "*15:02" - }, - { - "variant_id": "HLA-B*44:03", - "gene": "HLA-B", - "allele": "*44:03" - }, - { - "variant_id": "HLA-A*02:07", - "gene": "HLA-A", - "allele": "*02:07" - }, - { - "variant_id": "HLA-A*33:03", - "gene": "HLA-A", - "allele": "*33:03" - } - ], - "PMC3202555": [ - { - "variant_id": "rs1801272", - "gene": "CYP2A6", - "allele": "AA + AT" - }, - { - "variant_id": "rs1801272", - "gene": "CYP2A6", - "allele": "AT + TT" - }, - { - "variant_id": "CYP2A6*1, CYP2A6*12", - "gene": "CYP2A6", - "allele": "*12" - }, - { - "variant_id": "CYP2A6*1, CYP2A6*1x2", - "gene": "CYP2A6", - "allele": "*1x2" - }, - { - "variant_id": "CYP2B6*1, CYP2B6*9", - "gene": "CYP2B6", - "allele": "*9" - }, - { - "variant_id": "rs28399433", - "gene": "CYP2A6", - "allele": "A" - }, - { - "variant_id": "CYP2B6*1, CYP2B6*4", - 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}, - { - "variant_id": "HLA-B*38:02", - "gene": "HLA-B", - "allele": "*38:02" - }, - { - "variant_id": "HLA-DRB1*08:03", - "gene": "HLA-DRB1", - "allele": "*08:03" - } - ], - "PMC5749368": [ - { - "variant_id": "CYP2C9*1, CYP2C9*2, CYP2C9*3", - "gene": "CYP2C9", - "allele": "*2 + *3" - }, - { - "variant_id": "rs9923231", - "gene": "VKORC1", - "allele": "TT" - }, - { - "variant_id": "CYP2C9*1, CYP2C9*2, CYP2C9*3", - "gene": "CYP2C9", - "allele": "*2 + *3" - }, - { - "variant_id": "CYP2C9*1, CYP2C9*2, CYP2C9*3", - "gene": "CYP2C9", - "allele": "*2 + *3" - }, - { - "variant_id": "rs9923231", - "gene": "VKORC1", - "allele": "TT" - }, - { - "variant_id": "rs9923231", - "gene": "VKORC1", - "allele": "TT" - } - ], - "PMC7586802": [ - { - "variant_id": "rs1799963", - "gene": "F2", - "allele": "A" - }, - { - "variant_id": "rs2066865", - "gene": "FGG", - "allele": "A" - }, - { - "variant_id": "rs6025", - "gene": "F5", - "allele": "T" - } - ], - "PMC2432489": [ - { - "variant_id": "rs11188072", - "gene": "CYP2C19", - "allele": "TT" - }, - { - "variant_id": "rs12248560", - "gene": "CYP2C19", - "allele": "TT" - } - ], - "PMC9532634": [ - { - "variant_id": "rs35599367", - "gene": "CYP3A4", - "allele": "AA + AG" - }, - { - "variant_id": "rs4823613", - "gene": "PPARA", - "allele": "GG" - }, - { - "variant_id": "rs4253728", - "gene": "PPARA", - "allele": "GG" - }, - { - "variant_id": "rs35599367", - "gene": "CYP3A4", - "allele": "AA + AG" - } - ], - "PMC7689744": [ - { - "variant_id": "CYP2C19*1, CYP2C19*2", - "gene": "CYP2C19", - "allele": "*2" - }, - { - "variant_id": "CYP2C19*1, CYP2C19*2", - "gene": "CYP2C19", - "allele": "*2" - } - ], - "PMC3513236": [ - { - "variant_id": "CYP2D6*1, CYP2D6*10", - "gene": "CYP2D6", - "allele": "*1/*1" - }, - { - "variant_id": "CYP2D6*1, CYP2D6*10", - "gene": "CYP2D6", - "allele": "*10/*10" - }, - { - "variant_id": "CYP2D6*1, CYP2D6*10", - "gene": "CYP2D6", - "allele": "*10/*10" - } - ], - "PMC7274090": [ - { - "variant_id": "CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*8, CYP2C19*9", - 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"allele": "C" - }, - { - "variant_id": "rs2108622", - "gene": "CYP4F2", - "allele": "T" - } - ], - "PMC4674354": [ - { - "variant_id": "rs35599367", - "gene": "CYP3A4", - "allele": "A" - } - ], - "PMC2680526": [ - { - "variant_id": "rs9024", - "gene": "CBR1", - "allele": "GG" - }, - { - "variant_id": "rs9024", - "gene": "CBR1", - "allele": "GG" - } - ], - "PMC4411934": [ - { - "variant_id": "rs4803217", - "gene": "IFNL3", - "allele": "C" - } - ], - "PMC6498441": [ - { - "variant_id": "rs1042008", - "gene": "SULT1A1", - "allele": "A" - }, - { - "variant_id": "rs767487725", - "gene": "SULT1A1", - "allele": "C" - }, - { - "variant_id": "rs544820732", - "gene": "SULT1A1", - "allele": "A" - }, - { - "variant_id": "rs72547527", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs767487725", - "gene": "SULT1A1", - "allele": "C" - }, - { - "variant_id": "rs758145522", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs72547527", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs1042008", - "gene": "SULT1A1", - "allele": "A" - }, - { - "variant_id": "rs765399160", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs28374453", - "gene": "SULT1A1", - "allele": "G" - }, - { - "variant_id": "rs28374453", - "gene": "SULT1A1", - "allele": "G" - }, - { - "variant_id": "rs765399160", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs552524124", - "gene": "SULT1A1", - "allele": "G" - }, - { - "variant_id": "rs758145522", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs1042028", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs765399160", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs758145522", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs544820732", - "gene": "SULT1A1", - "allele": "A" - }, - { - "variant_id": "rs767487725", - "gene": "SULT1A1", - "allele": "C" - }, - { - "variant_id": "rs1042008", - "gene": "SULT1A1", - "allele": "A" - }, - { - "variant_id": "rs72547527", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs552524124", - "gene": "SULT1A1", - "allele": "G" - }, - { - "variant_id": "rs1042028", - "gene": "SULT1A1", - "allele": "T" - }, - { - "variant_id": "rs544820732", - "gene": "SULT1A1", - "allele": "A" - }, - { - "variant_id": "rs552524124", - "gene": "SULT1A1", - "allele": "G" - }, - { - "variant_id": "rs28374453", - "gene": "SULT1A1", - "allele": "G" - }, - { - "variant_id": "rs1042028", - "gene": "SULT1A1", - "allele": "T" - } - ], - "PMC3602211": [ - { - "variant_id": "rs1801158", - "gene": "DPYD", - "allele": "TT" - }, - { - "variant_id": "rs1801159", - "gene": "DPYD", - "allele": "CC" - }, - { - "variant_id": "rs1801265", - "gene": "DPYD", - "allele": "GG" - }, - { - "variant_id": "rs55886062", - "gene": "DPYD", - "allele": "CC" - }, - { - "variant_id": "rs1801160", - "gene": "DPYD", - "allele": "TT" - }, - { - "variant_id": "rs3918290", - "gene": "DPYD", - "allele": "TT" - } - ] -} \ No newline at end of file diff --git a/data/benchmark/val.jsonl b/data/benchmark/val.jsonl deleted file mode 100644 index e33fb5e..0000000 --- a/data/benchmark/val.jsonl +++ /dev/null @@ -1,451 +0,0 @@ -{"pmcid":"PMC4038024","article_title":"CYP3A5 Gene Variation Influences both Systemic and Intrarenal Tacrolimus Disposition","article_path":"articles/PMC4038024.md","variant_annotation_id":1183690042,"variant_haplotypes":"CYP3A5*1, CYP3A5*7","gene":"CYP3A5","drugs":"tacrolimus","pmid":23073208,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the CYP3A5 *1/*1 or *1/*7 (rs41303343) genotype had 1.6-fold higher oral tacrolimus clearance and 2.0 - 2.7-fold higher metabolite/parent area under the curve (AUC) ratios for 31-desmethyl tacrolimus (31-DMT), 12-hydroxytacrolimus, and 13-desmethyl tacrolimus (13-DMT), as compared to individuals with the *7/*7 genotype. Subjects who carry two copies of loss-of-function CYP3A5 alleles (CYP3A5*3/rs776746, CYP3A5*6/rs10264272 or CYP3A5*7) were pooled together as CYP3A5 non-expressors for this analysis. CYP3A5 *1 allele carriers were pooled togethers as CYP3A5 expressors.","sentence":"CYP3A5 *1/*1 + *1/*7 is associated with increased clearance of tacrolimus in healthy individuals as compared to CYP3A5 *7/*7.","alleles":"*1/*1 + *1/*7","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*7/*7","comparison_metabolizer_types":null} -{"pmcid":"PMC4868001","article_title":"Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy","article_path":"articles/PMC4868001.md","variant_annotation_id":1449565855,"variant_haplotypes":"CYP2C9*1, CYP2C9*2, CYP2C9*3","gene":"CYP2C9","drugs":"phenytoin","pmid":27179628,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2C9 *1/*3 + *2/*3 are not associated with dose of phenytoin in children with as compared to CYP2C9 *1/*1 + *1/*2.","alleles":"*1/*3 + *2/*3","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC6092108","article_title":"SLCO1B1 genetic variation and hormone therapy in menopausal women","article_path":"articles/PMC6092108.md","variant_annotation_id":1449311424,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"conjugated estrogens","pmid":29738412,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased concentrations of conjugated estrogens in women with Menopause as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Menopause","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715987,"variant_haplotypes":"rs1982235","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6510382","article_title":"VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People","article_path":"articles/PMC6510382.md","variant_annotation_id":1450370810,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":30821933,"phenotype_category":"Dosage","significance":"no","notes":"in Alaska Native and American Indian People.","sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3992925","article_title":"IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti\u2013IL-4 receptor \u03b1 antagonist","article_path":"articles/PMC3992925.md","variant_annotation_id":981477242,"variant_haplotypes":"rs8832","gene":"IL4R","drugs":"pitrakinra","pmid":22541248,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the GG genotype have a reduced frequency of asthma exacerbations and nocturnal awakenings compared to those with the AA + AG genotypes. There is a significant dose-response relationship for both of these phenotypes in subjects with the GG genotype.","sentence":"Genotype GG is associated with increased response to pitrakinra in people with Asthma as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3667657","article_title":"Plasma Letrozole Concentrations in Postmenopausal Women With Breast Cancer Are Associated With CYP2A6 Genetic Variants, Body Mass Index, and Age","article_path":"articles/PMC3667657.md","variant_annotation_id":827864375,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*35","gene":"CYP2A6","drugs":"letrozole","pmid":21975350,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients were grouped into normal (n = 200; *1/*1), intermediate (IM) (n = 40; *1/*9 and *1/*12), and slow (n = 21; *1/26, *1/35, *20/*23, *9/*9, *1/*4E, *1/*2, *17/*17, *1/*17, *17/*35, *2/*9, *9/*12) metabolizer groups. P-value given here is for slow or intermediate metabolizers compared normal metabolizers [stat_test: kruskal-wallis post hoc test]. CYP2A6*1/*26 and CYP2A6*1/*35 genotypes was consistent with normal metabolizers of letrozole rather than slow metabolizers. CYP2A6*12 was associated more with slow metabolizers than with intermediate metabolizers. CYP2A6*1/*26 and CYP2A6*1/*35(n = 1 each) were excluded from the analysis and CYP2A6*1/*12 (n = 11) were analyzed on the assumption that they related to slow metabolizers, which strengthened the analysis. Please note that this paper originally identified the *4E allele, which has been reassigned to *4 by PharmVar.","sentence":"CYP2A6 *1/*17 + *20/*23 + *9/*9 + *1/*4 + *1/*2 + *17/*17 + *17/*35 + *2/*9 + *9/*12 + *1/*9 + *1/*12 are associated with decreased clearance of letrozole in women with Breast Neoplasms as compared to CYP2A6 *1/*1.","alleles":"*1/*17 + *20/*23 + *9/*9 + *1/*4 + *1/*2 + *17/*17 + *17/*35 + *2/*9 + *9/*12 + *1/*9 + *1/*12","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4038024","article_title":"CYP3A5 Gene Variation Influences both Systemic and Intrarenal Tacrolimus Disposition","article_path":"articles/PMC4038024.md","variant_annotation_id":1183690054,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":23073208,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients who carried the T allele (CYP3A5 *1) had increased renal metabolism of tacrolimus and lower apparent urinary tacrolimus clearance as compared to CC (*3/*3) homozygotes. Decreased accumulation of tacrolimus in the tubular epithelium in carriers of the *1 allele as compared to *3/*3 homozygotes may contribute to interindividual differences in tacrolimus-induced nephrotoxicity. Subjects who carried two copies of a loss-of-function CYP3A5 allele (CYP3A5 *3, *6/rs10264272, *7/rs41303343) were pooled together as CYP3A5 non-expressers for the analysis; CYP3A5 *1 allele carriers were pooled together as CYP3A5 expressers.","sentence":"Genotypes CT + TT is associated with increased metabolism of tacrolimus in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003369,"variant_haplotypes":"rs1131596","gene":"SLC19A1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: AG+GG 0.41 (0.09\u201334.05)) vs. AA (0.6 (0.14\u201341.63)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes AG + GG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451667320,"variant_haplotypes":"rs28399454","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand. This is the defining allele of the CYP2A6*17 allele.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4366347","article_title":"Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder","article_path":"articles/PMC4366347.md","variant_annotation_id":1450826733,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"nicotine","pmid":28548579,"phenotype_category":"Other","significance":"no","notes":"Subgroup analysis of bipolar disorder patients only found no significant difference in number of cigarettes smoked per day between genotype groups.","sentence":"Genotypes AG + GG are not associated with exposure to nicotine in people with Bipolar Disorder as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4833149","article_title":"The pharmacokinetic and pharmacodynamic interaction of clopidogrel and cilostazol in relation to CYP2C19 and CYP3A5 genotypes","article_path":"articles/PMC4833149.md","variant_annotation_id":1446906094,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"clopidogrel","pmid":26426352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"either when clopidogrel is administered alone or in combination with cilostazole. The authors observed no differences in AUC (ng*hr/ml) or Cmax (ng/ml) values of clopidogrel thiol metabolite when comparing between CYP3A5 genotype groups. The differences in concentrations of clopidogrel thiol metabolite AUC, or Cmax between the CYP3A5 *1/*3 and CYP3A5 *3/*3 was not significant either when clopidogrel was administered alone or in combiation with cilostazole.","sentence":"CYP3A5 *1/*3 (assigned as intermediate metabolizer phenotype) is not associated with metabolism of clopidogrel in healthy individuals as compared to CYP3A5 *3/*3 (assigned as poor metabolizer phenotype) .","alleles":"*1/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC2966433","article_title":"IL28B SNP rs8099917 Is Strongly Associated with Pegylated Interferon-\u03b1 and Ribavirin Therapy Treatment Failure in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC2966433.md","variant_annotation_id":981481540,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":21048934,"phenotype_category":"Efficacy","significance":"yes","notes":"The type of peginterferon alfa was not specified. The patients were co-infected with HIV-1. An association with SVR (sustained viral response) at 24 weeks was found in HCV genotype 1-infected patients, but not in genotype 3-infected patients.","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in Hepatitis C, Chronic as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC6542686","article_title":"Breast milk pharmacokinetics of efavirenz and breastfed infants\u2019 exposure in genetically-defined subgroups of mother-infant pairs: an observational study","article_path":"articles/PMC6542686.md","variant_annotation_id":1448997209,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":25882300,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"CYP2B6 516G>T was independently associated with efavirenz concentrations in maternal plasma, breast milk, and infant plasma.","sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11059713","article_title":"Therapeutic efficacy of generic artemether\u2013lumefantrine in the treatment of uncomplicated malaria in Ghana: assessing anti-malarial efficacy amidst pharmacogenetic variations","article_path":"articles/PMC11059713.md","variant_annotation_id":1452466220,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"artemether, dihydroartemisinin","pmid":38685044,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"Fig 3. Plasma drug concentration of artemether and dihydroartemisinin and CYP2B6 and CYP3A5 expressors. C There were no observed significant differences. D There were no observed significant differences\"","sentence":"CYP3A5 *1/*3 + *1/*6 + *1/*7 is not associated with decreased concentrations of artemether or dihydroartemisinin in people with Malaria, Falciparum as compared to CYP3A5 *1/*1.","alleles":"*1/*3 + *1/*6 + *1/*7","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Malaria, Falciparum","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC7999651","article_title":"SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability","article_path":"articles/PMC7999651.md","variant_annotation_id":1451448741,"variant_haplotypes":"SLCO1B1*1, SLCO1B1*5","gene":"SLCO1B1","drugs":"atorvastatin","pmid":33805706,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of the SLCO1B1 decreased function (DF) and poor function (PF) phenotypes (*1/*5 and *5/*5) were related to higher AUC/DW, Cmax/DW and to lower Vd/F and Cl/F compared to carriers of the normal function (NF) phenotype (*1/*1).","sentence":"SLCO1B1 *1/*5 + *5/*5 are associated with increased concentrations of atorvastatin in healthy individuals as compared to SLCO1B1 *1/*1.","alleles":"*1/*5 + *5/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC1237155","article_title":"A Prospective, Randomized Pilot Trial of Model-Based Warfarin Dose Initiation using CYP2C9 Genotype and Clinical Data","article_path":"articles/PMC1237155.md","variant_annotation_id":1183701549,"variant_haplotypes":"CYP2C9*1, CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":16160068,"phenotype_category":"Dosage","significance":"no","notes":"This was a pilot study to compare traditional and PGx-guided dosing.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin as compared to CYP2C9 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3518380","article_title":"Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study","article_path":"articles/PMC3518380.md","variant_annotation_id":981238738,"variant_haplotypes":"rs35793","gene":"KCNMA1","drugs":"quetiapine","pmid":22920393,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by changes in PANSS-T (positive and negative syndrome scale total score), using a mixed model repeated measures approach. Examined 6789 SNPs - p-value of p< or equal to 5x10-4 was considered significant. Please note: reported allele was C, this has been complemented to the plus chromosomal strand. It was unclear whether the allele was associated with an increased or decreased response to drug.","sentence":"Allele G is associated with response to quetiapine in people with Schizophrenia.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678334,"variant_haplotypes":"rs2234922","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was no association between dose (mean daily, or mean maintenance) with the genotype.","sentence":"Genotype GG is not associated with dose of carbamazepine in people with Epilepsy as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166122,"variant_haplotypes":"rs751655","gene":"OPCML","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2664151","article_title":"ADH single nucleotide polymorphism associations with alcohol metabolism in vivo","article_path":"articles/PMC2664151.md","variant_annotation_id":827566688,"variant_haplotypes":"rs283411","gene":"ADH1C","drugs":"ethanol","pmid":19193628,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":"The authors did not report p-value correction for multiple hypotheses (103 snps tested). Though they report multiple snps are significantly associated with alcohol metabolism (early or late) tested on blood or breath alcohol concentrations, this snp is NOT significant after Bonferroni correction (<0.00049). Also, the authors did not state which alleles are associated with increased or decreased metabolism. Instead, they simply report an association with the snp in general. Note that this gene is on the minus strand.","sentence":"Allele A is associated with metabolism of ethanol.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3617060","article_title":"The ability of plasma cotinine to predict nicotine and carcinogen exposure is altered by differences in CYP2A6: the influence of genetics, race and sex","article_path":"articles/PMC3617060.md","variant_annotation_id":1452644920,"variant_haplotypes":"CYP2A6 low activity","gene":"CYP2A6","drugs":"cotinine","pmid":23371292,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In people with slower relative to faster CYP2A6 activity, cotinine accumulates resulting in substantial differences in cotinine levels for a given tobacco exposure. Reduced metabolizers were defined as subjects with one or two copies of *2,*4, *7,*9,*10,*12,*17,*35.","sentence":"CYP2A6 low activity is associated with increased metabolism of cotinine in people with Tobacco Use Disorder as compared to CYP2A6 high activity.","alleles":null,"specialty_population":null,"metabolizer_types":"low activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"high activity"} -{"pmcid":"PMC9820795","article_title":"The MAOA rs979605 Genetic Polymorphism Is Differentially Associated with Clinical Improvement Following Antidepressant Treatment between Male and Female Depressed Patients","article_path":"articles/PMC9820795.md","variant_annotation_id":1451987740,"variant_haplotypes":"rs1799836","gene":"MAOB","drugs":"5-hydroxyindole-3-acetic acid, serotonin","pmid":36613935,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"TT/T females/males had a significantly higher 5HIAA/5HT ratio (2.79 \u00b1 0.27) compared to CC/C females/males (2.18 \u00b1 0.28) following Bonferroni correction\"","sentence":"Genotype TT is associated with increased concentrations of 5-hydroxyindole-3-acetic acid and serotonin in women with Depressive Disorder, Major as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in women with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6357964","article_title":"UGT1A1 Genotype-Dependent Dose Adjustment of Belinostat in Patients With Advanced Cancers Using Population Pharmacokinetic Modeling and Simulation","article_path":"articles/PMC6357964.md","variant_annotation_id":1448260935,"variant_haplotypes":"UGT1A1*1, UGT1A1*28, UGT1A1*60","gene":"UGT1A1","drugs":"belinostat","pmid":26637161,"phenotype_category":"Dosage","significance":"not stated","notes":"Simulated doses of 600 or 400 mg/m2/24h were given to patients with the *1/*1 + *1/*28 and *28/*28 + *1/*60 + *60/*60 genotypes, respectively, in order to provide equivalent belinostat AUCs.","sentence":"UGT1A1 *28/*28 + *1/*60 + *60/*60 are associated with decreased dose of belinostat in people with Neoplasms as compared to UGT1A1 *1/*1 + *1/*28.","alleles":"*28/*28 + *1/*60 + *60/*60","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*28","comparison_metabolizer_types":null} -{"pmcid":"PMC9031832","article_title":"Influence of COMT (rs4680) and DRD2 (rs1076560, rs1800497) Gene Polymorphisms on Safety and Efficacy of Methylphenidate Treatment in Children with Fetal Alcohol Spectrum Disorders","article_path":"articles/PMC9031832.md","variant_annotation_id":1451769140,"variant_haplotypes":"rs1076560","gene":"DRD2","drugs":"methylphenidate","pmid":35457347,"phenotype_category":"Efficacy","significance":"no","notes":"\"No association of the studied polymorphisms: DRD2 rs1076560:C > A or DRD2 rs1800497:G > A with the efficacy or safety of MPH treatment was observed\"","sentence":"Allele A is not associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity and Fetal Alcohol Syndrome as compared to allele C.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Attention Deficit Disorder with Hyperactivity, Other:Fetal Alcohol Syndrome","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3468617","article_title":"Combinatorial Pharmacogenetic Interactions of Bucindolol and \u03b21, \u03b12C Adrenergic Receptor Polymorphisms","article_path":"articles/PMC3468617.md","variant_annotation_id":982046373,"variant_haplotypes":"rs61767072","gene":"ADRA2C","drugs":"bucindolol","pmid":23071495,"phenotype_category":"Efficacy","significance":"yes","notes":"This study was interested in the effect of this SNP in tandem with rs1801253. The effect of this SNP was secondary to that of rs1801253 such that variants of this SNP did not affect patient outcome unless the patient was a variant carrier for rs1801253. Patients homozygous for the Arg amino acid at rs1801253 showed significantly less occurrences of all cause mortality, cardiac transplant, or heart failure hospitalizations as compared to other patients. Patients carrying the Gly amino acid at rs1801253 but were homozygous for the wildtype allele at this SNP responded worse than those that were homozygous for wildtype allele at rs1801253, but much better than patients carrying the variant allele at both SNPs. Patients carrying the variant allele at both SNPs and were treated with bucindolol had worse outcomes than those that were given a placebo.","sentence":"Genotype GGGGCGGGGCCG/GGGGCGGGGCCG is associated with increased response to bucindolol in people with Heart Failure as compared to genotypes GGGGCGGGGCCG/del + del/del.","alleles":"GGGGCGGGGCCG/GGGGCGGGGCCG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart Failure","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GGGGCGGGGCCG/del + del/del","comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703625,"variant_haplotypes":"rs9915451","gene":"ANKFN1","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele G is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679140,"variant_haplotypes":"rs73568641","gene":null,"drugs":"methadone","pmid":34910759,"phenotype_category":"Efficacy","significance":"no","notes":"The C allele was associated with reduced odds of continued opioid use in female patients undergoing MMT. However, this was not significant. No association was found in male patients. The significance threshold was set at p<0.017. This SNP is described in the paper as an OPRM1 SNP.","sentence":"Allele C is associated with increased response to methadone in women with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930590,"variant_haplotypes":"rs3743075","gene":"CHRNA3","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436520,"variant_haplotypes":"rs3742106","gene":"ABCC4","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Based on available allele frequency data, it is assumed that the paper compares the A and C alleles.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10163902","article_title":"MTHFR and MTRR Genetic Polymorphism of Methotrexate Therapy Outcomes in Early Rheumatoid Arthritis","article_path":"articles/PMC10163902.md","variant_annotation_id":1452100020,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"methotrexate","pmid":37159804,"phenotype_category":"Efficacy","significance":"no","notes":"alleles complemented to plus chromosomal strand. Response measured by ESR, erythrocyte sedimentation rate; TJC, tender joints counts; SJC, swollen joints counts; DAS28, Disease Activity Score in 28 joints. \"DAS28 was decreased after the post-treatment in 677TT and 1298AC, but was not statistically significant.\"","sentence":"Allele A is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157158,"variant_haplotypes":"rs10753331","gene":null,"drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment.","sentence":"Allele A is not associated with response to buprenorphine in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11720188","article_title":"Effect of Genetic Variants on Rosuvastatin Pharmacokinetics in Healthy Volunteers: Involvement of ABCG2, SLCO1B1 and NAT2","article_path":"articles/PMC11720188.md","variant_annotation_id":1452808368,"variant_haplotypes":"TPMT intermediate metabolizer","gene":"TPMT","drugs":"rosuvastatin","pmid":39796117,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For TPMT enzyme, a significant decrease in AUC\u221e/DW (p = 0.031), AUC72h/DW (p = 0.029, pmv = 0.049, \u03b2 = \u22120.267, R2 = 0.302) and Cmax/DW (p = 0.004; pmv = 0.011, \u03b2=\u22120.382, R2 = 0.292) parameters was observed when subjects were intermediate metabolizers (IM) in comparison to normal metabolizers (NM) (Table 3)\" Authors reference CPIc and Dutch guidelines but do not specify which variants were measured.","sentence":"TPMT intermediate metabolizer is associated with decreased dose-adjusted trough concentrations of rosuvastatin in healthy individuals as compared to TPMT normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2903324","article_title":"Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741","article_path":"articles/PMC2903324.md","variant_annotation_id":1450950867,"variant_haplotypes":"rs1801265","gene":"DPYD","drugs":"FOLFIRI, FOLFOX, irinotecan, oxaliplatin","pmid":20530282,"phenotype_category":"Efficacy","significance":"no","notes":"Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.","sentence":"Genotypes AG + GG is not associated with response to FOLFIRI, FOLFOX, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC9931738","article_title":"Analysis of CYP2C19 gene polymorphism and influencing factors of pharmacological response of clopidogrel in patients with cerebral infarction in Zhejiang, China","article_path":"articles/PMC9931738.md","variant_annotation_id":1452023900,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":36818341,"phenotype_category":"Efficacy","significance":"yes","notes":"this was greater for the *2/*2+*2/*3 than *1/*2+*1/*3. Two patients with *17 (one was *2/*17 and other was *3/*17) were excluded from analysis.","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*2 + *2/*3 is associated with increased resistance to clopidogrel in people with Stroke as compared to CYP2C19 *1/*1.","alleles":"*1/*2 + *1/*3 + *2/*2 + *2/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170862,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"4-hydroxytamoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563863,"variant_haplotypes":"CYP2C19 intermediate metabolizer","gene":"CYP2C19","drugs":"valproic acid","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Compared with the respective normal metabolizers, we observed increased valproate plasma concentrations in CYP2C9 intermediate metabolizers (12% [95% CI, 4%-20%]), CYP2C19 intermediate metabolizers (12% [95% CI, 2%-24%]) and CYP2C19 poor metabolizers (20% [95% CI, 2%-41%]) (Table 3).\" \"Abolished activity: CYP2C19*2: rs1799853 or CYP2C19*3: rs1057910\"","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is associated with increased concentrations of valproic acid as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1451164140,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"atazanavir / ritonavir","pmid":21288825,"phenotype_category":"Toxicity","significance":"yes","notes":"Atazanavir boosted with ritonavir. Treatment discontinuation in the first year was investigated. The drug discontinuation was mainly due to drug toxicity. Carriers of the UGT1A1 *28/*28 (TA)7/(TA)7 and UGT1A1 *28/*37 (TA)7(TA)8 (homozygous decreased function) experience more drug discontinuation due to toxicity (not further specified) than *1/*28 and *1/*1 carriers (p=0.004). 2 of 3 individuals homozygous for the UGT1A1 *28 discontinued atazanavir in the present study (although hyperbilirubinemia was not listed as the cause but \"drug toxicity\" often was).","sentence":"UGT1A1 *28/*28 is associated with increased discontinuation of atazanavir / ritonavir in people with HIV Infections as compared to UGT1A1 *1/*1.","alleles":"*28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3658129","article_title":"Neurotrophic Tyrosine Kinase Receptor Type 2 (NTRK2) Gene Associated with Treatment Response to Mood Stabilizers in Patients with Bipolar I Disorder","article_path":"articles/PMC3658129.md","variant_annotation_id":981954215,"variant_haplotypes":"rs2769605","gene":null,"drugs":"lithium, valproic acid","pmid":23315174,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotype CC is associated with decreased response to lithium or valproic acid in people with Bipolar Disorder as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3506814","article_title":"Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population","article_path":"articles/PMC3506814.md","variant_annotation_id":1183699684,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"bevacizumab","pmid":23204795,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the CT genotype were given a greater average number of additional bevacizumab injections (after the initial three intravitreal injections), as compared to those with the TT genotype.","sentence":"Genotype CT is associated with increased dose of bevacizumab in people with Macular Degeneration as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5932771","article_title":"Optimal predictor for 6-mercaptopurine intolerance in Chinese children with acute lymphoblastic leukemia: NUDT15, TPMT, or ITPA genetic variants?","article_path":"articles/PMC5932771.md","variant_annotation_id":1449750276,"variant_haplotypes":"TPMT*1, TPMT*3C","gene":"TPMT","drugs":"mercaptopurine","pmid":29720126,"phenotype_category":"Dosage, Toxicity","significance":"no","notes":"as measured by 6-MP dose intensity, which is a measure dose adjustment due to toxicity calculated by the ratio of the prescribed 6-MP dose over the protocol dose of 50 mg/m2/d. There were no TPMT*3C homozygotes and no TPMT*2.","sentence":"TPMT *1/*3C is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT *1/*1.","alleles":"*1/*3C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3675749","article_title":"Influences of Organic Cation Transporter Polymorphisms on the Population Pharmacokinetics of Metformin in Healthy Subjects","article_path":"articles/PMC3675749.md","variant_annotation_id":1183682332,"variant_haplotypes":"rs316019","gene":"SLC22A2","drugs":"metformin","pmid":23417334,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy individuals with the CC genotype had decreased area under the serum concentration-time curve from zero to infinity (AUCinf), decreased peak concentration (Cmax), and increased clearance (CL/F) of metformin, as compared to those with the AC genotype. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype CC is associated with increased clearance of metformin in healthy individuals as compared to genotype AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AC","comparison_metabolizer_types":null} -{"pmcid":"PMC3667657","article_title":"Plasma Letrozole Concentrations in Postmenopausal Women With Breast Cancer Are Associated With CYP2A6 Genetic Variants, Body Mass Index, and Age","article_path":"articles/PMC3667657.md","variant_annotation_id":827864338,"variant_haplotypes":"CYP2A6*1, CYP2A6*35","gene":"CYP2A6","drugs":"letrozole","pmid":21975350,"phenotype_category":null,"significance":"not stated","notes":"CYP2A6*1/*35 is associated with normal metabolism of letrozole (compared to slow metabolism of nicotine).","sentence":"CYP2A6 *1/*35 is associated with metabolism of letrozole in women with Breast Neoplasms.","alleles":"*1/*35","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC9601332","article_title":"The Pharmacogenetics of Cannabis in the Treatment of Chronic Pain","article_path":"articles/PMC9601332.md","variant_annotation_id":1451930586,"variant_haplotypes":"rs7438135","gene":"UGT2B7","drugs":"cannabinoids","pmid":36292717,"phenotype_category":"Efficacy","significance":"yes","notes":"\"AA homozygous patients for the UGT2B7 gene reported an average pain decrease of 2 VAS points, compared to the 1.3 VAS points of GG homozygotes or AG heterozygotes.\"","sentence":"Genotype AA is associated with increased clinical benefit to cannabinoids in people with Pain as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4308646","article_title":"Tamoxifen metabolism predicts drug concentrations and outcome in premenopausal patients with early breast cancer","article_path":"articles/PMC4308646.md","variant_annotation_id":1444932824,"variant_haplotypes":"CYP2D6 poor metabolizers","gene":"CYP2D6","drugs":"endoxifen","pmid":25091503,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Strong gene-dose effect for an association between the CYP2D6 activity score and endoxifen concentrations in all ethnic cohorts. *3, *4, *5, *6, *9, *10, *14, *15, *17, *41 were detected and grouped the following: PM/PM (0), PM/IM (0.5), IM/IM (0.75), PM/EM (1), IM/EM (1.5), EM/EM (2) and EM/UM (3). Patients were treated with tamoxifen but also 80% received chemotherapy. [pre-menopausal] [adjuvant] [DNA source: blood] [HWE: yes except *3, *9, *10, *17 in some populations]","sentence":"CYP2D6 poor metabolizer is associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4330076","article_title":"Pharmacogenomics of Hypertension: A Genome\u2010Wide, Placebo\u2010Controlled Cross\u2010Over Study, Using Four Classes of Antihypertensive Drugs","article_path":"articles/PMC4330076.md","variant_annotation_id":1448099774,"variant_haplotypes":"rs2514036","gene":"ACY3","drugs":"bisoprolol","pmid":25622599,"phenotype_category":"Efficacy","significance":"yes","notes":"Because of the GWAS design, these p-values are suggestive, not significant. Each participant received losartan 50 mg, bisoprolol 5 mg, hydrochlorothiazide 25 mg, and amlodipine 5 mg daily, each as a monotherapy in randomized order for 4 weeks. The study started with a 4-week run-in placebo period, and all 4 drug treatments were separated by 4-week placebo periods. 24-hour ABP readings were recorded at the end of each treatment period.","sentence":"Allele T is associated with increased response to bisoprolol in men with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2760462","article_title":"Atazanavir pharmacokinetics in genetically determined CYP3A5 expressors versus non-expressors","article_path":"articles/PMC2760462.md","variant_annotation_id":1184998461,"variant_haplotypes":"CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7","gene":"CYP3A5","drugs":"atazanavir","pmid":19710077,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"In this two-phase study, healthy participants were given atazanavir only for 7 days and then were co-administered ritonavir as a booster for days 8-14. The results here are for day 1-7 (atazanavir alone). Non-expressor status was assigned to CYP3A5 homozygous variants (*3, *6, or *7) and expressor status was assigned to those carrying at least one *1 allele. By the end of day 7 oral clearance of atazanavir was 0.25 L/h/kg in CYP3A5 expressors versus 0.18 L/hr/kg in non-expressors (a 1.39 faster fold faster clearance in CYP3A5 expressors). Note: the authors do not specify which *3 allele patients had and so *3a here represents all *3 alleles.","sentence":"CYP3A5 *3 + *6 + *7 are associated with decreased metabolism of atazanavir in healthy individuals as compared to CYP3A5 *1.","alleles":"*3 + *6 + *7","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452569940,"variant_haplotypes":"rs16944","gene":"IL1B","drugs":"aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4713720","article_title":"Population pharmacokinetics and pharmacogenetics of once daily tacrolimus formulation in stable liver transplant recipients","article_path":"articles/PMC4713720.md","variant_annotation_id":1447679078,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"tacrolimus","pmid":26521259,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP3A4 *22 is not associated with clearance of tacrolimus in people with liver transplantation as compared to CYP3A4 *1.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2014166","article_title":"Tolterodine does not affect the human in vivo metabolism of the probe drugs caffeine, debrisoquine and omeprazole","article_path":"articles/PMC2014166.md","variant_annotation_id":1452643500,"variant_haplotypes":"CYP2D6 poor metabolizer","gene":"CYP2D6","drugs":"tolterodine","pmid":10190648,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Subjects were phenotyped with debrisoquine. Serum concentrations of the active 5-hydroxymethyl metabolite of tolterodine, 5-HM, were not quantifiable in PMs. \"There was a clear difference between the two CYP2D6 phenotypes, with the mean concentrations of tolterodine being 5\u201310 times higher in PMs compared with those in EMs. Serum 5-HM concentrations were in the same range as the parent compound in EM\"","sentence":"CYP2D6 poor metabolizer is associated with increased concentrations of tolterodine in men as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4640545","article_title":"Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients","article_path":"articles/PMC4640545.md","variant_annotation_id":1447678288,"variant_haplotypes":"rs1051740","gene":"EPHX1","drugs":"carbamazepine","pmid":26555147,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors evaluated maintenance dose-adjusted concentrations of carbamazepine (CBZ), its active metabolite, CBZ-epoxide (CBZE), and its inactive metabolite CBZ-diol (CBZD) as well as CBZE:CBZ, CBZD:CBZ and CBZD:CBZE ratios.The CC genotype is associated with a lower mean dose adj. concentration of carbamazepine (CBZ) (microgram/mL per mg/Kg) (0.76 for the CC genotype vs. 0.94 &1.02 for the TT and CT genotypes, respectively). The C allele was also associated with a lower mean CBZ-diol to CBZ ratio (0.31 for TT vs. 0.23 & 0.25 for the CT & CC genotypes, respectively).","sentence":"Genotype CC is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC10139129","article_title":"Genetic Polymorphisms of ENPP2 Are Possibly Associated with Pain Severity and Opioid Dose Requirements in Patients with Inflammatory Pain Conditions: Clinical Observation Study","article_path":"articles/PMC10139129.md","variant_annotation_id":1452087820,"variant_haplotypes":"rs2249015","gene":"ENPP2","drugs":"opioids","pmid":37108150,"phenotype_category":"Dosage","significance":"yes","notes":"authors describe for minor allele, all sources in gnomAD give A as minor allele and G as major allele. This was not significant for dosage in the cancer pain intensity cohort.","sentence":"Genotype AA is associated with increased dose of opioids in people with Pain, Postoperative as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4794377","article_title":"Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy","article_path":"articles/PMC4794377.md","variant_annotation_id":1447677238,"variant_haplotypes":"rs1008805","gene":"CYP19A1","drugs":"hdl cholesterol","pmid":26463708,"phenotype_category":"Other","significance":"yes","notes":"when taking letrozole and lipid lowering agents (LLA), such as statins. Data are from a sub-analysis of the Exemestane and Letrozole Pharmacogenomics (ELPh) study, where post-menopausal women with early stage breast cancer were randomized to receive exemestane or letrozole. Of the 303 eligible women, 160 were randomized to the letrozole group, 52 of whom were also taking LLA. This SNP was associated with decreases in HDL-cholesterol of 6.6 mg/dL (SE 1.7).","sentence":"Allele G is associated with decreased concentrations of hdl cholesterol in women with Breast Neoplasms and Menopause as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms, Disease:Menopause","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4441275","article_title":"Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population","article_path":"articles/PMC4441275.md","variant_annotation_id":1184472389,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":20128861,"phenotype_category":"Dosage","significance":"no","notes":"Neither the addition of race, number of concurrent medications nor the number of concurrent medications interacting with warfarin enhanced algorithm performance. Similarly, consideration of CYP4F2, CALU or GGCX variant genotypes did not improve algorithms.","sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930299,"variant_haplotypes":"rs588765","gene":"CHRNA5","drugs":"nicotine","pmid":26010901,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of nicotine in people with Tobacco Use Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":827807419,"variant_haplotypes":"CYP2C9*1","gene":"CYP2C9","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"as compared to *2*2 or *3*3 or *2*3 with *1*2 and *1*3 requiring intermediate doses. This was most marked at day 28 to end of follow-up with average doses of 5.18mg/day for *1*1, 4.25mg/day for *1*2 or *1*3 and 3.36mg/day for *2*2 or *3*3 or *2*3.","sentence":"CYP2C9 *1/*1 is associated with increased dose of warfarin.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511096,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of AA, AG and GG did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4735517","article_title":"Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2","article_path":"articles/PMC4735517.md","variant_annotation_id":1447814206,"variant_haplotypes":"rs10851907","gene":"CHRNB4","drugs":"cotinine","pmid":26833182,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. The SNP was associated with a ~34 ng/ml increase in plasma/serum cotinine and accounted for 1.75% variance in cotinine levels.","sentence":"Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11023817","article_title":"Pharmacogenetic Influence on Stereoselective Steady-State Disposition of Bupropion","article_path":"articles/PMC11023817.md","variant_annotation_id":1452415367,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"bupropion","pmid":38467432,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"CYP2C19 phenotype had no influence on bupropion enantiomers apparent oral; clearance or renal clearance, and also had no influence on bupropion hydroxylation, based on; enantiomers plasma hydroxybupropion/bupropion AUC ratios (not shown) or urine; hydroxybupropion formation clearances. The plasma racemic threohydrobupropion/racemic; bupropion AUC ratio was greater in CYP2C19 intermediate and poor metabolizers, due mainly; to a greater 1S,2S-threohydrobupropion/S-bupropion AUC ratio. Formation clearance of 4-; hydroxy(erythro- and threo-hydrobupropion) was also significantly less in CYP2C19 poor; metabolizers. These were not greater in ultrarapid metabolizers. \"","sentence":"CYP2C19 poor metabolizer is not associated with increased exposure to bupropion in people with Depressive Disorder, Major as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5323433","article_title":"Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer","article_path":"articles/PMC5323433.md","variant_annotation_id":1448492087,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"exemestane","pmid":27549341,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference in exemestane concentrations were seen between the three genotypes. The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.","sentence":"Genotypes C/T + T/T are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype C/C.","alleles":"C/T + T/T","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C/C","comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679411,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"omeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *2/*2, *2/*3 or *3/*3 genotype. This was a meta-analysis and included 6 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.","sentence":"CYP2C19 *1/*1 is associated with decreased response to omeprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928304,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to risperidone in people with Schizophrenia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5048209","article_title":"Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response","article_path":"articles/PMC5048209.md","variant_annotation_id":1448632243,"variant_haplotypes":"rs1908557","gene":null,"drugs":"bupropion","pmid":27622933,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased response to bupropion in people with Depression as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032312,"variant_haplotypes":"rs2120266","gene":"NTRK2","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant after permutation analysis based on 40,000 replicates, and not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction).","sentence":"Genotype AA is associated with increased dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC8841435","article_title":"Pharmacogenomics of celiprolol \u2013 evidence for a role of P\u2010glycoprotein and organic anion transporting polypeptide 1A2 in celiprolol pharmacokinetics","article_path":"articles/PMC8841435.md","variant_annotation_id":1451548145,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"celiprolol","pmid":34585840,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"the AUC0-infinity values were 213% smaller (p < 5 \u00d7 10\u22123) per copy of the ABCB1 c.3435T>C minor allele\". Alleles complemented to plus chromosomal strand.","sentence":"Allele G is associated with decreased concentrations of Celiprolol in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5485718","article_title":"Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel","article_path":"articles/PMC5485718.md","variant_annotation_id":1448624865,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":27981573,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This variant was associated with decreased active metabolite H4 concentration.","sentence":"CYP2C19 *2 is associated with decreased metabolism of clopidogrel as compared to CYP2C19 *1/*1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5508045","article_title":"The impact of non-genetic and genetic factors on a stable warfarin dose in Thai patients","article_path":"articles/PMC5508045.md","variant_annotation_id":1448624188,"variant_haplotypes":"rs887829","gene":"UGT1A1","drugs":"warfarin","pmid":28550460,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism and Venous Thrombosis as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6777349","article_title":"Genotype-guided dosing study of FOLFIRI plus bevacizumab in metastatic colorectal cancer patients","article_path":"articles/PMC6777349.md","variant_annotation_id":1448281118,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":27507617,"phenotype_category":"Dosage","significance":"not stated","notes":"This study provided maximum tolerated doses of irinotecan for the *1/*1 and *1/*28 genotypes. Patients with *28/*28 were excluded. The maximum tolerated dose for *1/*1 was higher than that of *1/*28, and both were higher than the standard dose of 180 mg/m2.","sentence":"UGT1A1 *1/*28 is associated with decreased dose of irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3940150","article_title":"Underlying genetic structure impacts the association between CYP2B6 polymorphisms and response to efavirenz and nevirapine","article_path":"articles/PMC3940150.md","variant_annotation_id":1448993550,"variant_haplotypes":"rs8192709","gene":"CYP2B6","drugs":"efavirenz, non-nucleoside reverse transcriptase inhibitors","pmid":22951632,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype CT is not associated with response to efavirenz or non-nucleoside reverse transcriptase inhibitors in women with HIV Infections as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5421731","article_title":"Candidate\u2010Gene Study of Functional Polymorphisms in SLCO1B1 and CYP3A4/5 and the Cholesterol\u2010Lowering Response to Simvastatin","article_path":"articles/PMC5421731.md","variant_annotation_id":1448624736,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"simvastatin","pmid":28482130,"phenotype_category":"Efficacy","significance":"no","notes":"609 self-reported white and 335 self-reported African American men and women with baseline total serum cholesterol level between 160 and 400 mg/dL received 40 mg simvastatin daily for 6 weeks. Clinic visits occurred at 2-week intervals during the 6-week study.","sentence":"CYP3A5 *3 is not associated with response to simvastatin as compared to CYP3A5 *1.","alleles":"*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC10532907","article_title":"Pharmacogenetic Variants Associated with Fluoxetine Pharmacokinetics from a Bioequivalence Study in Healthy Subjects","article_path":"articles/PMC10532907.md","variant_annotation_id":1452260772,"variant_haplotypes":"rs28371703","gene":"CYP2D6","drugs":"fluoxetine","pmid":37763120,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Stratification of subjects based on CYP2D6 genotypes confirmed the difference in the PK profiles, based on the three SNVs found in this study (rs1065852, rs1135840, and rs28371703)\" Alleles complemented.","sentence":"Genotype GT is associated with increased half-life time of fluoxetine in healthy individuals as compared to genotype GG.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"half-life time of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11012255","article_title":"Single Nucleotide Polymorphisms of CYP3A4 and CYP3A5 in Romanian Kidney Transplant Recipients: Effect on Tacrolimus Pharmacokinetics in a Single-Center Experience","article_path":"articles/PMC11012255.md","variant_annotation_id":1452443500,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":38610733,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\" In the case of the CYP3A5*1 allele, a significant difference in the C0/D ratio was observed between carriers (CYP3A5*1/*1 and CYP3A5*1/*3) and individuals with the CYP3A5*3/*3 genotype during all post-transplant phases (p < 0.001)\"","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC6011347","article_title":"Blood pressure signature genes and blood pressure response to thiazide diuretics: results from the PEAR and PEAR-2 studies","article_path":"articles/PMC6011347.md","variant_annotation_id":1449566369,"variant_haplotypes":"rs11065987","gene":null,"drugs":"hydrochlorothiazide","pmid":29925376,"phenotype_category":"Efficacy","significance":"yes","notes":"rs11065987 was selected as a representative SNP of rs11065987, rs653178, rs10774625 and rs11066301, all of which are in high linkage disequilibrium with each other. The A allele of rs11065987 was associated with a greater decrease in both systolic and diastolic blood pressure following treatment with hydrochlorothiazideas compared to the GG genotype.","sentence":"Genotypes AA + AG is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11258238","article_title":"Metabolic activity of CYP2C19 and CYP2D6 on antidepressant response from 13 clinical studies using genotype imputation: a meta-analysis","article_path":"articles/PMC11258238.md","variant_annotation_id":1452534000,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"antidepressants","pmid":39025838,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Overall, PMs in CYP2C19 showed a higher remission rate with nominal significance (OR\u2009=\u20091.46, 95% CI [1.03, 2.06], p\u2009=\u20090.033, Fig. \u200bFig.2a)2a) but did not meet correction for multiple testing. The percentage improvement analysis showed a non-significant higher efficacy in PMs (SMD\u2009=\u20090.13, 95% CI [\u22120.03, 0.29], p\u2009=\u20090.101).\"","sentence":"CYP2C19 poor metabolizer is associated with increased clinical benefit to antidepressants in people with Depressive Disorder, Major as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038036,"variant_haplotypes":"rs5104","gene":"APOA4","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682497,"variant_haplotypes":"rs12944940","gene":null,"drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele T is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5079351","article_title":"The use of ivacaftor in CFTR mutations resulting in residual functioning protein","article_path":"articles/PMC5079351.md","variant_annotation_id":1448423843,"variant_haplotypes":"rs121909011","gene":"CFTR","drugs":"ivacaftor","pmid":27812499,"phenotype_category":"Efficacy","significance":"yes","notes":"Investigation of ivacaftor treatment in patients with CFTR variants conferring residual CFTR function, comparing patients with ivacaftor treatment to those without. Genotypes of the patients receiving ivacaftor were R347P/L1065P, 2789+5G/R1066C, S912X/D579G, S912X/D579G, del F508/R352Q, G542X/D1152H, and W1282W/D1152H. The outcomes measured were FEV1 %predicted, increase in BMI, CFQ-R, and number of exacerbations.","sentence":"Allele C is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2722908","article_title":"Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data","article_path":"articles/PMC2722908.md","variant_annotation_id":655387562,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":19228618,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5604731","article_title":"Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients","article_path":"articles/PMC5604731.md","variant_annotation_id":827863341,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":22450926,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9801627","article_title":"Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease","article_path":"articles/PMC9801627.md","variant_annotation_id":1451974167,"variant_haplotypes":"rs58847127","gene":"ITGB3","drugs":"clopidogrel","pmid":36581799,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with increased resistance to clopidogrel in people with Coronary Disease as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Coronary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479737,"variant_haplotypes":"rs4646425","gene":"CYP1A2","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6409308","article_title":"Genetic Association of Olanzapine Treatment Response in Han Chinese Schizophrenia Patients","article_path":"articles/PMC6409308.md","variant_annotation_id":1451702080,"variant_haplotypes":"rs12610827","gene":null,"drugs":"olanzapine","pmid":30886581,"phenotype_category":"Efficacy","significance":"yes","notes":"Authors state \"In this study, Han Chinese SCZ patients who carried allele T in SNP rs12610827 showed more good response in OLA treatment.\"","sentence":"Allele T is associated with increased clinical benefit to olanzapine in people with Schizophrenia as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680865,"variant_haplotypes":"rs1054190","gene":"NR1I2","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3553682","article_title":"Impact of Pharmacogenetic Markers of CYP2B6, Clinical Factors, and Drug-Drug Interaction on Efavirenz Concentrations in HIV/Tuberculosis-Coinfected Patients","article_path":"articles/PMC3553682.md","variant_annotation_id":1183491467,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"efavirenz","pmid":23254426,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"As shown by increased plasma concentrations (units = mg/L) for those with the AG genotype compared to those with the AA genotype. Fasting plasma efavirenz concentrations were measured 12 hours after the last dose, and after 12 weeks of treatment.","sentence":"Genotype AG is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4641035","article_title":"Efficacy and safety of ivacaftor treatment: randomized trial in subjects with cystic fibrosis who have an R117H-CFTR mutation","article_path":"articles/PMC4641035.md","variant_annotation_id":1447986312,"variant_haplotypes":"rs78655421","gene":"CFTR","drugs":"ivacaftor","pmid":26070913,"phenotype_category":"Efficacy","significance":"yes","notes":"Extension study of KONDUCT. Patients underwent a washout period then an interim analysis at 12 weeks. Placebo-to-ivacaftor and ivacaftor-to-ivacaftor groups showed % predicted FEV1 improvement (absolute change from post-washout baseline at week 12: placebo-to-ivacaftor 5.0 percentage points (p=0.0005), ivacaftor-to-ivacaftor 6.0 percentage points (p=0.006)). There was also improvement in CFQ-R respiratory domain.","sentence":"Genotypes AA + AG is associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3894627","article_title":"Genetic Determinants of Response to Warfarin during Initial Anticoagulation","article_path":"articles/PMC3894627.md","variant_annotation_id":1450980580,"variant_haplotypes":"rs2884737","gene":"VKORC1","drugs":"warfarin","pmid":18322281,"phenotype_category":"Dosage","significance":"yes","notes":"With *1/*2 (AC) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA\"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs9923231, rs9934438, rs8050894, and rs2359612 to define HaplotypeA.","sentence":"Genotype CC is associated with decreased dose of warfarin as compared to genotype AA.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5412267","article_title":"OPRM1 c.118A>G Polymorphism and Duration of Morphine Treatment Associated with Morphine Doses and Quality-of-Life in Palliative Cancer Pain Settings","article_path":"articles/PMC5412267.md","variant_annotation_id":1448612973,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"morphine","pmid":28346387,"phenotype_category":"Dosage","significance":"no","notes":"The setting was for palliative care of cancer patients.","sentence":"Allele A is not associated with dose of morphine in people with Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8204702","article_title":"Rifampicin effect on intracellular and plasma pharmacokinetics of tenofovir alafenamide","article_path":"articles/PMC8204702.md","variant_annotation_id":1451640080,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tenofovir alafenamide","pmid":30815689,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Through linear regression analysis CYP3A4*22 522-191C>T (rs35599367) was significantly associated with log10 tenofovir alafenamide plasma AUC at visit day 56 (P\u205f=\u205f0.033, \u03b2\u205f=\u205f0.25), with a 39% difference in tenofovir alafenamide AUC between homozygous CC (n\u205f=\u205f17) and heterozygous CT (n\u205f=\u205f4) individuals. Within our population no subjects possessed the homozygous variant genotype for CYP3A4*22 522-191C>T.\" Alleles complemented to plus chromosomal strand.","sentence":"Genotype AG is associated with decreased concentrations of tenofovir alafenamide in healthy individuals as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2599947","article_title":"ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence","article_path":"articles/PMC2599947.md","variant_annotation_id":1450811573,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":18424454,"phenotype_category":"Dosage","significance":"no","notes":"Please note that alleles have been complemented to the positive strand. Genotypes were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.","sentence":"Genotype AA is not associated with dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC9582748","article_title":"Effects of CYP2C19 genetic polymorphisms on the cure rates of H. pylori in patients treated with the proton pump inhibitors: An updated meta-analysis","article_path":"articles/PMC9582748.md","variant_annotation_id":1451927040,"variant_haplotypes":"CYP2C19 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2C19","drugs":"esomeprazole, pantoprazole, rabeprazole","pmid":36278195,"phenotype_category":"Efficacy","significance":"no","notes":"in meta-analysis of cure rates of H. pylori in triple therapy.","sentence":"CYP2C19 intermediate metabolizer and poor metabolizer is not associated with increased clinical benefit to esomeprazole, pantoprazole or rabeprazole in people with Helicobacter Infections as compared to CYP2C19 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC4682920","article_title":"Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study","article_path":"articles/PMC4682920.md","variant_annotation_id":1447682483,"variant_haplotypes":"rs52797880","gene":"APOH","drugs":"boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":26670100,"phenotype_category":"Efficacy","significance":"no","notes":"This variant was not significantly associated with SVR to triple therapy including telaprevir or boceprevir in patients with compensated cirrhosis chronically infected with HCV-1.","sentence":"Allele A is not associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4278770","article_title":"Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy","article_path":"articles/PMC4278770.md","variant_annotation_id":1444694895,"variant_haplotypes":"rs1799983","gene":"NOS3","drugs":"epirubicin, fluorouracil, oxaliplatin","pmid":25545243,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Metastatic neoplasm, Disease:Stomach Neoplasms","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8915292","article_title":"Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers","article_path":"articles/PMC8915292.md","variant_annotation_id":1451729340,"variant_haplotypes":"rs3758580","gene":"CYP2C19","drugs":"AR-C124910XX, ticagrelor","pmid":35280252,"phenotype_category":"Metabolism/PK","significance":"no","notes":"from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance","sentence":"Genotypes CT + TT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC12043259","article_title":"Pharmacogenetics of plasma dolutegravir exposure during 1-month rifapentine/isoniazid treatment of latent tuberculosis","article_path":"articles/PMC12043259.md","variant_annotation_id":1452856220,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"dolutegravir","pmid":39960813,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"no association between NAT2 acetylator; status and dolutegravir Ctrough\"","sentence":"NAT2 slow acetylator is not associated with increased dose-adjusted trough concentrations of dolutegravir in people with HIV infectious disease and Tuberculosis as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease, Other:Tuberculosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} -{"pmcid":"PMC5098919","article_title":"Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke","article_path":"articles/PMC5098919.md","variant_annotation_id":1447949744,"variant_haplotypes":"CYP2C19*1, CYP2C19*3","gene":"CYP2C19","drugs":"clopidogrel","pmid":26961113,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"CYP2C19 *1/*3 + *3/*3 are not associated with resistance to clopidogrel in people with Stroke as compared to CYP2C19 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Stroke","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5533497","article_title":"CYP2D6 phenotypes are associated with adverse outcomes related to opioid medications","article_path":"articles/PMC5533497.md","variant_annotation_id":1448995416,"variant_haplotypes":"CYP2D6 poor and ultrarapid metabolizers","gene":"CYP2D6","drugs":"opioids","pmid":28769582,"phenotype_category":"Efficacy","significance":"yes","notes":"After adjusting for age and gender, subjects with poor or ultrarapid metabolizer phenotype are 2.6 times more likely to experience poor pain control.","sentence":"CYP2D6 poor and ultrarapid metabolizers are associated with decreased response to opioids in people with Pain as compared to CYP2D6 intermediate metabolizer and normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC6486881","article_title":"Replication of the pharmacogenetic effect of rs678849 on buprenorphine efficacy in African-Americans with opioid use disorder","article_path":"articles/PMC6486881.md","variant_annotation_id":1449753070,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"methadone","pmid":30368523,"phenotype_category":"Efficacy","significance":"no","notes":"Efficacy was determined by the number of opioid-positive urine screens recorded during treatment.","sentence":"Genotype CC is not associated with response to methadone in people with Opioid-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5700353","article_title":"Genetics of Nevirapine Metabolic Pathways at Steady State in HIV-Infected Cambodians","article_path":"articles/PMC5700353.md","variant_annotation_id":1449001754,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":28947469,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased metabolism of nevirapine in people with HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164085,"variant_haplotypes":"rs2472682","gene":"NR1I2","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"no","notes":"Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Allele C is not associated with dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896193,"variant_haplotypes":"rs2456568","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452436740,"variant_haplotypes":"rs1801133","gene":"CLCN6, MTHFR","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 4.5E-3.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511072,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Genotypes of TT, CT and CC did not influence donepezil clearance in a covariate model. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is not associated with clearance of donepezil in people with Alzheimer Disease as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6216325","article_title":"Methadone Dosage and Plasma Levels, SNPs of OPRM1 Gene and Age of First Drug Use Were Associated With Outcomes of Methadone Maintenance Treatment","article_path":"articles/PMC6216325.md","variant_annotation_id":1450373197,"variant_haplotypes":"rs2236259","gene":"OPRM1","drugs":"methadone","pmid":30420869,"phenotype_category":"Efficacy","significance":"no","notes":"This SNP was not significantly associated with compliance with methadone maintenance therapy or 'negative rate of morphine urine test'.","sentence":"Allele C is not associated with response to methadone in people with Heroin Dependence as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6142943","article_title":"Association of Genetic Variants With Response to Anti\u2013Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration","article_path":"articles/PMC6142943.md","variant_annotation_id":1449567006,"variant_haplotypes":"rs2237435","gene":"INHBA","drugs":"bevacizumab, ranibizumab","pmid":29852030,"phenotype_category":"Efficacy","significance":"no","notes":"The authors performed GWAS in a discovery cohort, and did a replication analysis.","sentence":"Allele A is not associated with response to bevacizumab and ranibizumab in people with as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6451710","article_title":"Impact of CYP3A4*22 on Pazopanib Pharmacokinetics in Cancer Patients","article_path":"articles/PMC6451710.md","variant_annotation_id":1451639883,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"pazopanib","pmid":30367352,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There were homozygous AA in the cohort. Alleles complemented to plus chromosomal strand. Variant described as CYP3A4 rs35599367 15389C>T *22","sentence":"Genotype AG is associated with decreased clearance of pazopanib in people with Neoplasms as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3529147","article_title":"Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives \u2013 Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study","article_path":"articles/PMC3529147.md","variant_annotation_id":1183491501,"variant_haplotypes":"rs1799945","gene":"HFE","drugs":"atenolol","pmid":23087401,"phenotype_category":"Efficacy","significance":"no","notes":"Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment.","sentence":"Allele G is not associated with response to atenolol in people with Hypertension as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147560,"variant_haplotypes":"rs4986910","gene":"CYP3A4","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the G allele. The G allele is also referred to in the paper as the CYP3A4*3 allele.","sentence":"Allele G is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11552228","article_title":"CYP3A4*1B and CYP3A5*3 SNPs significantly impact the response of Egyptian candidates to high-intensity statin therapy to atorvastatin","article_path":"articles/PMC11552228.md","variant_annotation_id":1452706140,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"atorvastatin","pmid":39523378,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients with the C/C genotype had higher plasma atorvastatin levels (8.07\u2009\u00b1\u20092.33) than did those with the T/C genotype (3.30\u2009\u00b1\u20091.00) (P value\u2009<\u20090.001) (Table 5).; Pearson\u2019s analysis revealed statistically significant correlations (P values\u2009<\u20090.001) between atorvastatin plasma levels (in ng/ml) and both genotypes of CYP3A5*3 (T/C) and (C/C). There was a strong indirect relationship between the T/C genotype and disease severity (r\u2009=\u2009\u2212 0.73, n\u2009=\u200932). For the (C/C) genotype, there was a strong and direct relationship (r\u2009=\u20090.80, n\u2009=\u200967) (Table 3).\" No TT were reported.","sentence":"Genotype CC is associated with increased concentrations of atorvastatin in people with Cardiovascular Disease or Hyperlipidemias as compared to genotype CT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease, Other:Hyperlipidemias","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930252,"variant_haplotypes":"rs578776","gene":"CHRNA3","drugs":"nicotine, varenicline","pmid":26010901,"phenotype_category":"Efficacy","significance":"no","notes":"Response here refers to smoking cessation outcomes at 7 days and nicotine refers to nicotine patches. Smoking cessation outcomes at 6 months and 12 months were also not significantly associated with genotype.","sentence":"Genotype GG is not associated with response to nicotine or varenicline in people with Tobacco Use Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC8604252","article_title":"Nicotine metabolism and its association with CYP2A6 genotype among Indigenous people in Alaska who smoke","article_path":"articles/PMC8604252.md","variant_annotation_id":1451504060,"variant_haplotypes":"CYP2A6*1, CYP2A6*2, CYP2A6*9, CYP2A6*10","gene":"CYP2A6","drugs":"3-hydroxycotinine, 3-hydroxycotinine glucuronide","pmid":34520119,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Authors compared NMR nicotine metabolic ratio using 3-hydroxycotinine to cotinine in plasma and 3-hydroxycotinine and 3-hydroxycotinine glucuronide to cotinine in urine. Alleles measured were *1X2A, *1B, *2, *4, *9, *7, *8, *10 (composed of *7 and *8), *12, and *35. Activity scores were assigned by diplotype.","sentence":"CYP2A6 *1 + *2 (assigned as normal metabolizer and intermediate metabolizer phenotype) is associated with increased concentrations of 3-hydroxycotinine and 3-hydroxycotinine glucuronide in people with Tobacco Use Disorder as compared to CYP2A6 *10 + *9 (assigned as poor metabolizer phenotype) .","alleles":"*1 + *2","specialty_population":null,"metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*10 + *9","comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC2630264","article_title":"The largest prospective warfarin-treated cohort supports genetic forecasting","article_path":"articles/PMC2630264.md","variant_annotation_id":1183701108,"variant_haplotypes":"CYP2C9*2","gene":"CYP2C9","drugs":"warfarin","pmid":18574025,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9*2 and *3 explained 12% (P = 6.63 x 10(-34)) of the variation in warfarin dose.","sentence":"CYP2C9 *2 is associated with decreased dose of warfarin.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3680019","article_title":"Influence of efavirenz pharmacokinetics and pharmacogenetics on neuropsychological disorders in Ugandan HIV-positive patients with or without tuberculosis: a prospective cohort study","article_path":"articles/PMC3680019.md","variant_annotation_id":1448997246,"variant_haplotypes":"CYP2B6*1, CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":23734829,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":null,"sentence":"CYP2B6 *6 is associated with increased concentrations of efavirenz in people with HIV as compared to CYP2B6 *1/*1.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934470,"variant_haplotypes":"rs397515870","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the G allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Pro205Thr in the paper.","sentence":"Allele G is associated with increased response to migalastat in people with Fabry Disease.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3137047","article_title":"Probing Conformational Rescue Induced by a Chemical Corrector of F508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutant","article_path":"articles/PMC3137047.md","variant_annotation_id":981755725,"variant_haplotypes":"rs113993960","gene":"CFTR","drugs":"ivacaftor","pmid":21602569,"phenotype_category":"Efficacy","significance":"not stated","notes":"in vitro assays using cells expressing a F508del-KXK-CFTR: CFTR with the F508del mutation (rs113993960 del) and mutations of arginines at positions 553 and 555 (these increased protein processing and function). Cells were activated (forskolin, IBMX) then treated with ivacator and a corrector compound VRT-325.","sentence":"Allele del is associated with increased response to ivacaftor.","alleles":"del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4760888","article_title":"Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European\u2010Americans and Egyptians","article_path":"articles/PMC4760888.md","variant_annotation_id":1447677865,"variant_haplotypes":"rs4889606","gene":"STX1B","drugs":"warfarin","pmid":26751406,"phenotype_category":"Dosage","significance":"yes","notes":"in both European-Americans, and Egyptians. \"However, STX1B rs4889606 was in high linkage disequilibrium with VKORC1-1639 G>A, and was no longer significant after including VKORC1-1639 G>A in the regression model. Based on these data, the polymorphisms do not appear to influence, in a clinically important way, warfarin dose requirements in European-Americans and Egyptians. \"","sentence":"Genotypes AG + GG are associated with decreased dose of warfarin as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC11359404","article_title":"Genetic Variation in CYP2D6, UGT1A4, SLC6A2 and SLCO1B1 Alters the Pharmacokinetics and Safety of Mirabegron","article_path":"articles/PMC11359404.md","variant_annotation_id":1452574570,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"mirabegron","pmid":39204422,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"The Cmax/DW was significantly lower in NAT2 slow acetilators (SAs) compared to intermediate (IAs) and rapid acetilators (RAs) (puv = 0.046). Even though differences disappeared in pair comparison, the observed lower Cmax/DW in NAT2 SAs was maintained when IAs and RAs were merged in a unique group (puv = 0.016), accompanied by a tendency towards a lower AUC/DW (puv = 0.089) and higher tmax and CL/F in SAs (puv = 0.083 and puv = 0.076, respectively).\"","sentence":"NAT2 slow acetylator is associated with decreased dose-adjusted trough concentrations of mirabegron in healthy individuals as compared to NAT2 intermediate acetylator and rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate acetylator and rapid acetylator"} -{"pmcid":"PMC4565152","article_title":"Genetic Variation at the LDL Receptor and HMG CoA Reductase Gene Loci, Lipid Levels, Statin Response, and Cardiovascular Disease Incidence in PROSPER","article_path":"articles/PMC4565152.md","variant_annotation_id":769152908,"variant_haplotypes":"rs2738466","gene":"LDLR","drugs":"pravastatin","pmid":18261733,"phenotype_category":"Efficacy","significance":"not stated","notes":"PROSPER study.Baseline Lipid Values, LDL-C lowering response,trial CHD and CVD outcomes were measured. 40 mg/day pravastatin.","sentence":"Genotype GG is associated with increased response to pravastatin in people with Vascular Diseases as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Vascular Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC1975838","article_title":"Genetic-based dosing in orthopedic patients beginning warfarin therapy","article_path":"articles/PMC1975838.md","variant_annotation_id":1183699320,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":17387222,"phenotype_category":"Dosage","significance":"yes","notes":"C (*3) was associated with 38.1 %(95% CI 29.3 -45.7%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy.","sentence":"Allele C is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:total knee or hip arthroplasty","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4890827","article_title":"A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration","article_path":"articles/PMC4890827.md","variant_annotation_id":1446907744,"variant_haplotypes":"rs2070296","gene":"NRP1","drugs":"ranibizumab","pmid":26426212,"phenotype_category":"Efficacy","significance":"yes","notes":"Associated with change in visual acuity after 3 months of treatment in patients who received three monthly ranibizumab injections.","sentence":"Allele T is associated with decreased response to ranibizumab in people with Macular Degeneration as compared to genotype CC.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3282030","article_title":"The Correlation of Il28B Genotype With Sustained Virologic Response In Romanian patients With Chronic Hepatitis C","article_path":"articles/PMC3282030.md","variant_annotation_id":1444705048,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":22368681,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with increased sustained virological response (SVR; 73.1%[19 of 26] vs. 43.7%[35 of 80], P=0.0126) as well as increased occurrence of complete early virological response (cEVR; 80.8%[21 of 26] vs. 51.2%[41 of 80], P=0.011) when compared to patients with non-CC genotypes.","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3611944","article_title":"Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population","article_path":"articles/PMC3611944.md","variant_annotation_id":1183682052,"variant_haplotypes":"rs11200638","gene":"HTRA1","drugs":"ranibizumab","pmid":23559864,"phenotype_category":"Efficacy","significance":"no","notes":"Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes or central subfield macular thickness (CSMT) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.","sentence":"Allele A is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3329222","article_title":"A Common 5\u2032-UTR Variant in MATE2-K Is Associated With Poor Response to Metformin","article_path":"articles/PMC3329222.md","variant_annotation_id":827788923,"variant_haplotypes":"rs12943590","gene":"SLC47A2","drugs":"metformin","pmid":21956618,"phenotype_category":"Efficacy, Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype AA is associated with decreased response to metformin in people with Diabetes Mellitus as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811896,"variant_haplotypes":"rs648007","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The A allele was associated with increased scores in the dizzy and nausea traits on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele A is associated with increased response to ethanol as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4177494","article_title":"IL28B polymorphism genotyping as predictor of rapid virologic response during interferon plus ribavirin treatment in hepatitis C virus genotype 1 patients","article_path":"articles/PMC4177494.md","variant_annotation_id":1445296808,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":25278709,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriage of the G allele was the best predictor of null-R (not achieving a hepatitis C virus (HCV) RNA drop of >= 1 log at week 4) within logistic regression analysis.","sentence":"Genotypes GG + GT is associated with decreased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotype TT.","alleles":"GG + GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2810514","article_title":"Interleukin-6 (IL-6) haplotypes and the response to therapy of chronic hepatitis C virus infection","article_path":"articles/PMC2810514.md","variant_annotation_id":981861796,"variant_haplotypes":"rs1800797","gene":"IL6","drugs":"peginterferon alfa-2a","pmid":19387461,"phenotype_category":"Efficacy","significance":"yes","notes":"This association is as part of a haplotype which also includes rs1800796G and rs1800795G.","sentence":"Allele G is associated with decreased response to peginterferon alfa-2a in people with Hepatitis C, Chronic as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10607223","article_title":"Impact of Sex and Genetic Variation in Relevant Pharmacogenes on the Pharmacokinetics and Safety of Valsartan, Olmesartan and Hydrochlorothiazide","article_path":"articles/PMC10607223.md","variant_annotation_id":1452287900,"variant_haplotypes":"rs34059508","gene":"SLC22A1","drugs":"hydrochlorothiazide, olmesartan","pmid":37894954,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There were no AA homozygotes. \"Higher hydrochlorothiazide AUC\u221e/DW was observed in SLC22A1 rs34059508 G/A volunteers compared to G/G volunteers\"","sentence":"Genotype AG is associated with increased dose-adjusted trough concentrations of hydrochlorothiazide null olmesartan in healthy individuals as compared to genotype GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376587,"variant_haplotypes":"rs1800544","gene":"ADRA2A","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10163902","article_title":"MTHFR and MTRR Genetic Polymorphism of Methotrexate Therapy Outcomes in Early Rheumatoid Arthritis","article_path":"articles/PMC10163902.md","variant_annotation_id":1452100160,"variant_haplotypes":"rs1801131","gene":"MTHFR","drugs":"methotrexate","pmid":37159804,"phenotype_category":"Efficacy","significance":"no","notes":"alleles complemented to plus chromosomal strand. Response measured by ESR, erythrocyte sedimentation rate; TJC, tender joints counts; SJC, swollen joints counts; DAS28, Disease Activity Score in 28 joints. \"DAS28 was decreased after the post-treatment in 677TT and 1298AC, but was not statistically significant.\" No homozygotes were observed for the minor allele.","sentence":"Genotype GT is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype TT.","alleles":"GT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11509751","article_title":"Bleeding Events Associated with Rivaroxaban Therapy in Naive Patients with Nonvalvular Atrial Fibrillation: A Longitudinal Study from a Genetic Perspective with INR Follow-Up","article_path":"articles/PMC11509751.md","variant_annotation_id":1452654580,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"rivaroxaban","pmid":39459499,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In our study, we found that for ABCB1-related rs4148738 and rs2032582, there was a statistically significant difference between the wild and mutant genotypes and a decrease in the CDR max values of rivaroxaban, while CDRss was statistically significant between the wild and homozygous mutant genotypes. For rs1045642 and rs1128503 of ABCB1, the decreased CDR max and Css levels of rivaroxaban were statistically significant between the wild (AA) and mutant (AG, GG) genotypes. Our findings suggest that polymorphism in the P-glycoprotein expressed by the ABCB1 gene can affect the peak plasma levels of rivaroxaban.\"","sentence":"Genotypes AG + GG is associated with decreased concentrations of rivaroxaban in people with Atrial Fibrillation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163057,"variant_haplotypes":"rs2235048","gene":"ABCB1","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients. This is a proxy for rs1045642 (3435C>T).","sentence":"Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4976849","article_title":"Folate metabolic pathway single nucleotide polymorphisms: a predictive pharmacogenetic marker of methotrexate response in Indian (Asian) patients with rheumatoid arthritis","article_path":"articles/PMC4976849.md","variant_annotation_id":1447674478,"variant_haplotypes":"rs1051266","gene":"SLC19A1","drugs":"methotrexate","pmid":26616421,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Genotypes CT + TT is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5029084","article_title":"NUDT15 Polymorphisms Alter Thiopurine Metabolism and Hematopoietic Toxicity","article_path":"articles/PMC5029084.md","variant_annotation_id":1447945037,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*4, NUDT15*5","gene":"NUDT15","drugs":"mercaptopurine","pmid":26878724,"phenotype_category":"Dosage","significance":"yes","notes":"Patients were classified into three diplotypic groups: normal activity (*1/*1), intermediate activity (*1/*2, *1/*3, *1/*4, *1/*5) and low activity (*2/*3, *3/*3, *3/*5). Across three cohorts (Guatemalan, Singaporean, Japanese), and in a meta-analysis of the three cohorts, the tolerated mercaptopurine dose (mg/m2) was highest in those with normal activity, followed by intermediate activity and low activity. Note that those with the *1/*2 and *1/*3 diplotypes had similar degree of mercaptopurine tolerance, and compound-heterozygous genotypes had a similar degree of tolerance compared to homozygotes (*3/*3).","sentence":"NUDT15 *1/*1 (assigned as high activity phenotype) is associated with increased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*2 + *1/*3 + *1/*4 + *1/*5 + *3/*3 + *3/*5 + *2/*3 (assigned as intermediate and low activity phenotype) .","alleles":"*1/*1","specialty_population":"Pediatric","metabolizer_types":"high activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *1/*3 + *1/*4 + *1/*5 + *3/*3 + *3/*5 + *2/*3","comparison_metabolizer_types":"low activity and intermediate activity"} -{"pmcid":"PMC4835128","article_title":"ABCB1 and ABCC2 and the risk of distant metastasis in Thai breast cancer patients treated with tamoxifen","article_path":"articles/PMC4835128.md","variant_annotation_id":1448097395,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"tamoxifen","pmid":27110128,"phenotype_category":"Efficacy","significance":"yes","notes":"Efficacy was measured as disease-free survival in breast cancer patients with distant metastasis of bone, lung, or liver. No patients had the TT genotype.","sentence":"Genotype CT is associated with increased response to tamoxifen in women Breast Neoplasms as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11049768","article_title":"The influence of COMT and ABCB1 gene polymorphisms on sufentanil analgesic effect for postoperative pain in children with fracture","article_path":"articles/PMC11049768.md","variant_annotation_id":1452460760,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"sufentanil","pmid":38669362,"phenotype_category":"Dosage","significance":"yes","notes":"\"Pediatric patients in the CC group of ABCB1 had higher pain scores and total consumption of sufentanil at awakening, as well as at 2 and 6 hours postoperatively, compared to the TT and CT groups (P\u2005<\u2005.05). However, there was no statistically significant difference between the TT and CT groups (P\u2005>\u2005.05).\"","sentence":"Genotype GG is associated with increased dose of sufentanil in children with Pain, Postoperative as compared to genotypes AA + AG.","alleles":"GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550301,"variant_haplotypes":"rs362726","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4365300","article_title":"TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy","article_path":"articles/PMC4365300.md","variant_annotation_id":1444702681,"variant_haplotypes":"rs13031237","gene":"REL","drugs":"Tumor necrosis factor alpha (TNF-alpha) inhibitors","pmid":25834819,"phenotype_category":"Efficacy","significance":"no","notes":"using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.","sentence":"Allele T is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2966859","article_title":"Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer","article_path":"articles/PMC2966859.md","variant_annotation_id":981794096,"variant_haplotypes":"rs2242048","gene":"SLC28A1","drugs":"gemcitabine","pmid":20665488,"phenotype_category":"Efficacy, Toxicity","significance":"no","notes":"Tumor response to therapy, progression free survival, and risk of neutropenia development did not significantly differ between genotype groups.","sentence":"Genotype GG is not associated with increased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pancreatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC7235792","article_title":"Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates","article_path":"articles/PMC7235792.md","variant_annotation_id":1451147584,"variant_haplotypes":"rs41303343","gene":"CYP3A5","drugs":"ambrisentan, aripiprazole, atorvastatin, donepezil, olanzapine","pmid":32331352,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant changes in PK parameters in the presence of the A allele. The A allele is also referred to in the paper as the CYP3A5*7 allele.","sentence":"Allele A is not associated with metabolism of ambrisentan, aripiprazole, atorvastatin, donepezil or olanzapine in healthy individuals as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666920,"variant_haplotypes":"rs3821799","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%). The TT genotype was associated with a greater decrease in waist circumference as compared to the TC and CC genotypes after pioglitazone therapy (p=0.033).","sentence":"Genotypes CT + TT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5591096","article_title":"A genetic variant in GLP1R is associated with response to DPP-4 inhibitors in patients with type 2 diabetes","article_path":"articles/PMC5591096.md","variant_annotation_id":1452876409,"variant_haplotypes":"rs3765467","gene":"GLP1R","drugs":"gemigliptin, linagliptin, saxagliptin, sitagliptin, vildagliptin","pmid":27858848,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The proportion of DPP-4 inhibitor responders with GG genotype (52.7%) was significantly lower than that of responders with GA/AA genotype (68.8%, P\u200a=\u200a0.018). \" \"No significant differences in baseline fasting blood glucose and HbA1c were found between patients with GA/AA genotype and those with GG genotype. However, patients with GA/AA genotype were associated with a significantly greater reduction of HbA1c levels after DPP-4 inhibitor treatment (variation: 1.3\u200a\u00b1\u200a1.1% vs 0.9\u200a\u00b1\u200a1.2%; P\u200a=\u200a0.022) (Table 2).\"","sentence":"Genotypes AA + AG is associated with increased clinical benefit to gemigliptin, linagliptin, saxagliptin, sitagliptin or vildagliptin in people with Diabetes Mellitus, Type 2 as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4560372","article_title":"Association between CXCL10 and DPP4 Gene Polymorphisms and a Complementary Role for Unfavorable IL28B Genotype in Prediction of Treatment Response in Thai Patients with Chronic Hepatitis C Virus Infection","article_path":"articles/PMC4560372.md","variant_annotation_id":1446904224,"variant_haplotypes":"rs17574","gene":"DPP4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b","pmid":26339796,"phenotype_category":"Efficacy","significance":"no","notes":"PEG-interferon alfa (2a and b) was co-adminstered with ribavirin. Response was assessed by sustained virological response (SVR) percent by genotype. Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Genotype AA is not associated with response to peginterferon alfa-2a or peginterferon alfa-2b in people with Hepatitis C, Chronic as compared to genotype AG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5871545","article_title":"Variants in the CYP2B6 3\u2032UTR alter in vitro and in vivo CYP2B6 activity: potential role of microRNAs","article_path":"articles/PMC5871545.md","variant_annotation_id":1448997609,"variant_haplotypes":"rs707265","gene":"CYP2B6","drugs":"efavirenz","pmid":28960269,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"An increase in CYP2B6 activity was also seen among volunteers carrying the variant allele G/G vs. G/A [34.2% increase; p<0.05] and A/A [72.4% increase; p<0.0001]\".","sentence":"Genotypes AA + AG are associated with increased metabolism of efavirenz in healthy individuals as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388251,"variant_haplotypes":"rs3734254","gene":"PPARD","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with data in pgkb, actual base not listed in paper)","sentence":"Allele T is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2480976","article_title":"UGT1A1*28 genotype and irinotecan dosage in patients with metastatic colorectal cancer: a Dutch Colorectal Cancer Group study","article_path":"articles/PMC2480976.md","variant_annotation_id":1451206845,"variant_haplotypes":"UGT1A1*1, UGT1A1*28","gene":"UGT1A1","drugs":"irinotecan","pmid":18594531,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as complete or partial tumor response according to Response Evaluation Criteria in Solid Tumors (RECIST) criteria. Non-response was defined as stable or progressive disease, also according to RECIST. Patients were treated with irinotecan monotherapy or capecitabine plus irinotecan.","sentence":"UGT1A1 *1/*28 + *28/*28 is not associated with response to irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1/*1.","alleles":"*1/*28 + *28/*28","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5378677","article_title":"A genetic variant in Rassf1a predicts outcome in mCRC patients treated with cetuximab plus chemotherapy: results from FIRE-3 and JACCRO 05 and 06 trials","article_path":"articles/PMC5378677.md","variant_annotation_id":1449750599,"variant_haplotypes":"rs558614","gene":"LATS2","drugs":"cetuximab","pmid":27698403,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in tumor response, progression-free survival or overall survival was seen between the genotype groups. Patients also receiving treatment with fluorouracil, leucovorin and irinotecan (FOLFIRI).","sentence":"Allele A is not associated with response to cetuximab in people with Colorectal Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5645220","article_title":"Polymorphisms in CYP2C9 are associated with response to indomethacin among neonates with patent ductus arteriosus","article_path":"articles/PMC5645220.md","variant_annotation_id":1451140040,"variant_haplotypes":"rs2153628","gene":"CYP2C9","drugs":"indomethacin","pmid":28609430,"phenotype_category":"Efficacy","significance":"yes","notes":"among neonates with patent ductus arteriosus (PDA).","sentence":"Allele G is associated with increased response to indomethacin as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10668244","article_title":"Genotype-guided new approach for dose optimisation of hydroxychloroquine administration in Chinese patients with SLE","article_path":"articles/PMC10668244.md","variant_annotation_id":1452308585,"variant_haplotypes":"rs1065852","gene":"CYP2D6","drugs":"desethylchloroquine, hydroxychloroquine","pmid":37993281,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In addition, polymorphism of CYP2D6*10 (rs1065852) was significantly correlated with the DHCQ:HCQ ratio in both dose groups (p=0.032 and p=0.036, respectively), and the DHCQ:HCQ ratio was lower in patients with the AA genotype compared with the GG and AG genotypes.\"","sentence":"Genotype AA is associated with decreased concentrations of desethylchloroquine and hydroxychloroquine in people with Lupus Erythematosus, Systemic as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC524175","article_title":"Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment","article_path":"articles/PMC524175.md","variant_annotation_id":655387083,"variant_haplotypes":"rs688","gene":"LDLR","drugs":"atenolol","pmid":15453913,"phenotype_category":"Efficacy","significance":"no","notes":"The presence of a C allele MAY be associated with BP reduction. Not significant.; 50 mg/ atenolol for twelve weeks.","sentence":"Genotype CC is associated with response to atenolol in people with Hypertension.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3726442","article_title":"Relationship between Genotypes Sult1a2 and Cyp2d6 and Tamoxifen Metabolism in Breast Cancer Patients","article_path":"articles/PMC3726442.md","variant_annotation_id":1444935054,"variant_haplotypes":"CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*10, CYP2D6*17, CYP2D6*41","gene":"CYP2D6","drugs":"4-hydroxytamoxifen, N-desmethyltamoxifen, tamoxifen","pmid":23922954,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note: article provides diplotypes as wt/wt or wt/*3 etc. CYP2D6 wt includes *1, *2, *35 but the individual diplotypes concerning wt alleles are not included so compared to diplotypes are examples with *1 could be *2 or *35. Pre and postmenopausal woman with estrogen receptor-positive breast cancer undergoing tam treatment after surgery and chemotherapy/radiation. Patients were excluded if tamoxifen therapy was started with either chemotherapy or radiation, SSRI treatment was allowed. Roche-AmpliChip\u00ae CYP450 Test was used. Genotypes were classified into the three groups: wt/wt, patients with 2 or more copies of any functional allele; wt/v, patients carrying one functional allele and one variant -intermediate or null- allele; v/v, patients featuring intermediate or null alleles. [pre-menopausal][post-menopausal] [adjuvant] [DNA source: blood] [HWE: yes]","sentence":"CYP2D6 *3/*9 + *4/*4 + *4/*5 + *4/*10 + *4/*41 + *5/*17 + *5/*41 + *41/*41 are not associated with decreased concentrations of 4-hydroxytamoxifen, n-desmethyltamoxifen or tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*3 + *1/*4 + *1/*5 + *1/*6 + *1/*9 + *1/*17 + *1/*41.","alleles":"*3/*9 + *4/*4 + *4/*5 + *4/*10 + *4/*41 + *5/*17 + *5/*41 + *41/*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3 + *1/*4 + *1/*5 + *1/*6 + *1/*9 + *1/*17 + *1/*41","comparison_metabolizer_types":null} -{"pmcid":"PMC4631197","article_title":"Sulfasalazine disposition in a subject with 376C>T (nonsense mutation) and 421C>A variants in the ABCG2 gene","article_path":"articles/PMC4631197.md","variant_annotation_id":1444843284,"variant_haplotypes":"rs2231142","gene":"ABCG2","drugs":"sulfasalazine","pmid":25872459,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The mean AUC(0,48 h) was 3-fold higher and Cmax was 2.5-fold higher in individuals with the TT genotype as compared to individuals with the GG genotype. The apparent oral clearance (dose/ AUC(0,48 h)) was 3-fold lower in individuals with the TT genotype as compared to individuals with the GG genotype. The authors reported no differences in sulfasalazine PK between the GG genotype and GT genotype, however a single individual was compound heterozygous at rs72552713 (CT) and rs2231142 (GT) in and altered PK as compared to other individuals who were heterozygous only at rs2231142 (GT). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotype TT is associated with decreased clearance of sulfasalazine in healthy individuals as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC5727167","article_title":"Identification of two novel genes SLC15A2 and SLCO1B3 associated with maintenance dose variability of warfarin in a Chinese population","article_path":"articles/PMC5727167.md","variant_annotation_id":1449157667,"variant_haplotypes":"rs1143671","gene":"SLC15A2","drugs":"warfarin","pmid":29234073,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased dose of warfarin as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483693,"variant_haplotypes":"rs4149081","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3499361","article_title":"RHOA Is a Modulator of the Cholesterol-Lowering Effects of Statin","article_path":"articles/PMC3499361.md","variant_annotation_id":981479989,"variant_haplotypes":"rs11716445","gene":"RHOA","drugs":"pravastatin, simvastatin","pmid":23166513,"phenotype_category":"Efficacy","significance":"yes","notes":"The associated effect was on LDL Cholesterol and explained less than 1% of the variation.","sentence":"Allele A is associated with decreased response to pravastatin or simvastatin in people with Hypercholesterolemia as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypercholesterolemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10483403","article_title":"Genetic polymorphisms are associated with individual susceptibility to dexmedetomidine","article_path":"articles/PMC10483403.md","variant_annotation_id":1452241060,"variant_haplotypes":"rs11739136","gene":"KCNMB1","drugs":"dexmedetomidine","pmid":37693312,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by shorter onset time. \"In our study, carriers of the minor allele (CT/TT) needed a shorter onset time than homozygous carriers of the major allele (CC) (16.60 \u00b1 15.42 vs. 23.91 \u00b1 16.47, p = 0.009). Therefore, heterozygosity or homozygosity for the minor allele T) of KCNMB1 rs11739136 resulted in more sensitizing to DXM sedation.\"","sentence":"Genotypes CC + CT is associated with increased response to dexmedetomidine in people with surgery as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:surgery","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002171,"variant_haplotypes":"rs12248560","gene":"CYP2C19","drugs":"clopidogrel, clopidogrel thiol metabolite H4","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele A is not associated with exposure to clopidogrel or clopidogrel thiol metabolite H4 as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3384479","article_title":"Vitamin K antagonists in children with heart disease: height and VKORC1 genotype are the main determinants of the warfarin dose requirement","article_path":"articles/PMC3384479.md","variant_annotation_id":982047993,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":22130800,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with dose of warfarin in children as compared to genotype TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9256318","article_title":"Significance of CYP3A4\u22171G and OPRM1 A118G Polymorphisms in Postoperative Sufentanil Analgesia in Women of Different Ethnicities","article_path":"articles/PMC9256318.md","variant_annotation_id":1451838540,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"sufentanil","pmid":35799642,"phenotype_category":"Dosage","significance":"yes","notes":"rs2242480 is the defining allele for CYP3A4*36. The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36.","sentence":"Genotype CC is associated with increased dose of sufentanil in women with Pain, Postoperative as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4752391","article_title":"PHARMACOGENOMIC GENOME-WIDE META-ANALYSIS OF BLOOD PRESSURE RESPONSE TO BETA-BLOCKERS IN HYPERTENSIVE AFRICAN AMERICANS","article_path":"articles/PMC4752391.md","variant_annotation_id":1447676810,"variant_haplotypes":"rs1367094","gene":"ZMAT4","drugs":"atenolol, metoprolol","pmid":26729753,"phenotype_category":"Efficacy","significance":"yes","notes":"In African Americans.; Association found in atenolol and metoprolol monotherapy, but not validated in a atenolol plus hydrochlorothiazide therapy","sentence":"Allele T is associated with increased response to atenolol or metoprolol in people with Hypertension as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163578,"variant_haplotypes":"rs35599367","gene":"CYP3A4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this variant passed validation the EA population but frequency was too low in AA population to test. Direction of effect was not stated.","sentence":"Allele A is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":982044365,"variant_haplotypes":"rs8050894","gene":"VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele G is associated with decreased dose of warfarin as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11393095","article_title":"Impact of CYP2D6*2, CYP2D6*35, rs5758550, and related haplotypes on risperidone clearance in vivo","article_path":"articles/PMC11393095.md","variant_annotation_id":1452519102,"variant_haplotypes":"CYP3A4*22","gene":"CYP3A4","drugs":"risperidone","pmid":38963454,"phenotype_category":"Metabolism/PK","significance":"no","notes":"\"CYP3A4*22 was; not significant as a covariate in the model (p=0.31).\"","sentence":"CYP3A4 *22 is not associated with decreased clearance of risperidone.","alleles":"*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5768901","article_title":"Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR","article_path":"articles/PMC5768901.md","variant_annotation_id":1449192671,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor, tezacaftor","pmid":28930490,"phenotype_category":"Efficacy","significance":"yes","notes":"G551D allele. Significant improvements in sweat chloride level, ppFEV1 and CFQ-R scores were observed in the efficacy testing phase.","sentence":"Allele A is associated with response to ivacaftor and tezacaftor in people with Cystic Fibrosis.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6489578","article_title":"VKORC1 variants as significant predictors of warfarin dose in Emiratis","article_path":"articles/PMC6489578.md","variant_annotation_id":1451589762,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":31114289,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC1755496","article_title":"Polymorphism at position \u2013308 of the tumour necrosis factor \u03b1 gene and rheumatoid arthritis pharmacogenetics","article_path":"articles/PMC1755496.md","variant_annotation_id":1444668415,"variant_haplotypes":"rs1800629","gene":"TNF","drugs":"infliximab","pmid":15834068,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the GG genotype had a significantly greater decrease in the Disease Activity Score in 28 joints (DAS28) score as compared to those with the AG genotype (no patients with the AA genotype were present in the cohort) after a mean of 24.8 months of treatment. The authors also noted a tendency of a better Health Assessment Questionnaire (HAQ) evolution (p=0.064), but no significant difference in radiological outcome (Sharp score).","sentence":"Genotype GG is associated with increased response to infliximab in people with Arthritis, Rheumatoid as compared to genotype AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5546852","article_title":"Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention","article_path":"articles/PMC5546852.md","variant_annotation_id":1448617627,"variant_haplotypes":"rs11868513","gene":"HNF1B","drugs":"metformin","pmid":28453780,"phenotype_category":"Efficacy","significance":"yes","notes":"Subjects were at high risk of diabetes and were recruited from Diabetes Prevention Program (DPP) and were followed for a year. The authors measured changes in response to insulin at baseline and one year after treatment. Subjects with the AA genotypes had the highest diabetes incidence in the placebo group but had a significant response to metformin. Subjects with the AG genotype had lower diabetes incidence rates than subjects with the AA genotype, but incidence of diabetes were significantly associated with lifestyle changes or metformin. Diabetes incidence rates were lower in subjects with the GG genotype with lifestyle intervention (P<0.001) but not by metformin (P=0.2) as compared with placebo.","sentence":"Genotypes AA + AG are associated with increased response to metformin as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4828529","article_title":"Influence of genetic polymorphisms in the folate pathway on toxicity after high-dose methotrexate treatment in pediatric osteosarcoma","article_path":"articles/PMC4828529.md","variant_annotation_id":1451547000,"variant_haplotypes":"rs1801133","gene":"CLCN6, MTHFR","drugs":"methotrexate","pmid":27104192,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with concentrations of methotrexate in children with Osteosarcoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Osteosarcoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1762324","article_title":"A Proof-Of-Principle Study of Epigenetic Therapy Added to Neoadjuvant Doxorubicin Cyclophosphamide for Locally Advanced Breast Cancer","article_path":"articles/PMC1762324.md","variant_annotation_id":1451138920,"variant_haplotypes":"NAT2 slow acetylator","gene":"NAT2","drugs":"hydralazine","pmid":17183730,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Note, NAT2 not specified just categorized in slow and rapid acetylator. Patients received a single oral 500-mg dose (two 250-mg tablets) of sulfamethazine and urine was collected within the ensuing 6 h for acetylator status phenotyping. Afterward, patients began treatment (day \u20137) with a daily dose of a slow-release formulation of hydralazine tablets containing either 182 mg for rapid-acetylators or 83 mg for slow- acetylators. Plasmatic levels of hydralazine were analyzed in 10 patients in whom plasma samples were available at different time-points during treatment. Distribution of these patients according to acetylator phenotype was four and six for slow and rapid, respectively. Mean plasma levels of hydralazine ranged from 204.8\u2013275.1 ng/mL for rapid-acetylators, whereas these mean values were 252.1\u2013344.2 ng/mL in slow- acetylators. Overall means were 246 and 299 ng/mL, respectively, which were not statistically significant different (p = 0.2445). The subjects received also other drugs to treat neoplasms.","sentence":"NAT2 slow acetylator is associated with decreased metabolism of hydralazine in people with Neoplasms as compared to NAT2 rapid acetylator.","alleles":null,"specialty_population":null,"metabolizer_types":"slow acetylator","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"rapid acetylator"} -{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820562,"variant_haplotypes":"rs3805716","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference was seen when considering DONOR genotype at week 4 of treatment. Patients with hepatocellular carcinoma.","sentence":"Genotype AA is not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotypes AT + TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165388,"variant_haplotypes":"rs4073","gene":"CXCL8","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 3 studies. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele T is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele A.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10972729","article_title":"The role of polymorphic cytochrome P450 gene (CYP2B6) in B-chronic lymphocytic leukemia (B-CLL) incidence and outcome among Egyptian patients","article_path":"articles/PMC10972729.md","variant_annotation_id":1452439020,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":38560574,"phenotype_category":"Efficacy","significance":"yes","notes":"\" In contrast to patients with the GG genotype, who were classified as 83% responders, 14.5% non-responders, and 2.5%) no responders, patients carrying variant genotypes (GT + TT) were classified as (37.5% responders, 58.5% non-responders, and 4% toxic death). Based on the data in Table S2, we found that there was a significant (p < 0.001) association between the variant genotypes and response failure.\"","sentence":"Genotype GG is associated with increased clinical benefit to cyclophosphamide in people with Leukemia, Lymphocytic, Chronic, B-Cell as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Leukemia, Lymphocytic, Chronic, B-Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4307337","article_title":"Capability of Utilizing CYP3A5 Polymorphisms to Predict Therapeutic Dosage of Tacrolimus at Early Stage Post-Renal Transplantation","article_path":"articles/PMC4307337.md","variant_annotation_id":1444694284,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":25594874,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The dose-adjusted trough concentrations of tacrolimus on the first day of tacrolimus administration (pre-transplantation) was 70% higher for those with the CC genotype (\"poor metabolizers\") as compared to those with the CT or TT genotype (\"extensive metabolizers\").","sentence":"Genotype CC is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC2647710","article_title":"Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states1","article_path":"articles/PMC2647710.md","variant_annotation_id":982044657,"variant_haplotypes":"rs780094","gene":"GCKR","drugs":"fenofibrate","pmid":19056598,"phenotype_category":"Efficacy","significance":"not stated","notes":"When combined with EITHER rs662799 AG + GG genotypes, OR rs3135506 CG + GG genotypes. This combined genotype group is associated with a greater reduction in triacylglycerol concentrations between baseline and 3 weeks of treatment, as compared to any other genotype combination. Adjusted for baseline triacylglycerol.","sentence":"Genotypes CT + TT are associated with increased response to fenofibrate in people with Hypertriglyceridemia.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4199712","article_title":"Effects of Cytochrome P450 2C19 and Paraoxonase 1 Polymorphisms on Antiplatelet Response to Clopidogrel Therapy in Patients with Coronary Artery Disease","article_path":"articles/PMC4199712.md","variant_annotation_id":1184990053,"variant_haplotypes":"rs662","gene":"PON1","drugs":"clopidogrel","pmid":25329996,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to clopidogrel in people with Coronary Artery Disease as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166275,"variant_haplotypes":"rs1061735","gene":"ESYT2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele G is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4199712","article_title":"Effects of Cytochrome P450 2C19 and Paraoxonase 1 Polymorphisms on Antiplatelet Response to Clopidogrel Therapy in Patients with Coronary Artery Disease","article_path":"articles/PMC4199712.md","variant_annotation_id":1184990030,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"clopidogrel","pmid":25329996,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"CYP2C19 *2 is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Coronary Artery Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376546,"variant_haplotypes":"rs3746544","gene":"SNAP25","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"yes","notes":"For the genetic component, in the CGI-S model, a dominant effect in SNAP25 rs3746544 was found with a significant improvement in the symptoms. Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Genotypes GG + GT are associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotype TT.","alleles":"GG + GT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC6462825","article_title":"Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort","article_path":"articles/PMC6462825.md","variant_annotation_id":1449164037,"variant_haplotypes":"rs11168293","gene":"VDR","drugs":"warfarin","pmid":29298995,"phenotype_category":"Dosage","significance":"yes","notes":"This SNP is in very tight linkage disequilibrium with rs11168292 and rs4760658 (r2>0.97). Mean dose (in mg) of warfarin according to genotype was: TT>GT>GG. p-value adjusted for CYP2C9 metabolizer status and VKORC1 activity status phenotypes, among other factors. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.","sentence":"Genotype TT is associated with increased dose of warfarin as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3603284","article_title":"Discordant Associations between SLCO1B1 521T\u2192C and Plasma Levels of Ritonavir-boosted Protease Inhibitors in AIDS Clinical Trials Group Study A5146","article_path":"articles/PMC3603284.md","variant_annotation_id":1451115920,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"saquinavir","pmid":23503447,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with trough concentration of saquinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10668502","article_title":"Impact of IL6R genetic variants on treatment efficacy and toxicity response to sarilumab in rheumatoid arthritis","article_path":"articles/PMC10668502.md","variant_annotation_id":1452308780,"variant_haplotypes":"rs4845625","gene":"IL6R","drugs":"sarilumab","pmid":38001504,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Patients carrying the CC genotype for rs4845625 had worse response rates to sarilumab as measured by CDAI and DAS28 LDA rates (45.5% and 52.4% vs. 76.7% and 80% in the CT\u2009+\u2009TT genotypes, respectively; p\u2009=\u20090.021 and p\u2009=\u20090.037).\"","sentence":"Genotype CC is associated with decreased response to sarilumab in people with Arthritis, Rheumatoid as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5753622","article_title":"Effect of genetic variation in UGT1A and ABCB1 on moxifloxacin pharmacokinetics in South African patients with tuberculosis","article_path":"articles/PMC5753622.md","variant_annotation_id":1451214860,"variant_haplotypes":"UGT1A1*1, UGT1A1*28, UGT1A1*36, UGT1A1*37","gene":"UGT1A1","drugs":"moxifloxacin","pmid":29210323,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Having the TA 5/6 repeat in rs8175347 was associated with a 20.6% lower clearance and approximately 26% higher AUC, after adjusting for other covariates (such as efavirenz and/or rifampicin co-administration) compared with those with TA 6/6, 6/7, 7/7 and 7/8\"","sentence":"UGT1A1 *1/*36 is associated with decreased clearance of moxifloxacin in people with Tuberculosis as compared to UGT1A1 *1/*1 + *1/*28 + *28/*28 + *28/*37.","alleles":"*1/*36","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tuberculosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*28 + *28/*28 + *28/*37","comparison_metabolizer_types":null} -{"pmcid":"PMC3213989","article_title":"RUNX transcription factors: association with pediatric asthma and modulated by maternal smoking","article_path":"articles/PMC3213989.md","variant_annotation_id":827788970,"variant_haplotypes":"rs11702779","gene":"RUNX1","drugs":"methacholine chloride","pmid":21803869,"phenotype_category":"Other","significance":"yes","notes":"This is for children without prenatal tobacco exposure.","sentence":"Genotype AA is associated with increased response to methacholine chloride in children with Asthma as compared to genotypes AG + GG.","alleles":"AA","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4375304","article_title":"Inherited NUDT15 Variant Is a Genetic Determinant of Mercaptopurine Intolerance in Children With Acute Lymphoblastic Leukemia","article_path":"articles/PMC4375304.md","variant_annotation_id":1444703361,"variant_haplotypes":"rs116855232","gene":"NUDT15","drugs":"mercaptopurine","pmid":25624441,"phenotype_category":"Dosage","significance":"yes","notes":"Decreased dosage was likely to be due to increased toxicity. The authors also calculated a genetic risk score based on genotype at rs1142345 and at rs116855232. Patients who were homozygous wild-type at both SNPs had the lowest genetic risk score and patients who were homozygous for the variant allele at either SNP had the highest genetic risk score. There was an inverse significant association between genetic risk score and dose reduction of mercaptopurine.","sentence":"Genotype TT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC8163522","article_title":"COMT Genotype and Efficacy of Propranolol for TMD Pain: A Randomized Trial","article_path":"articles/PMC8163522.md","variant_annotation_id":1451359880,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"propranolol","pmid":33030089,"phenotype_category":"Efficacy","significance":"no","notes":"More patients with the GG genotype reported a \u226530% reduction in facial pain index at week 9 of treatment than AA patients. However, this association was not significant.","sentence":"Genotype GG is associated with increased response to propranolol in people with Temporomandibular joint-pain-dysfunction syndrome as compared to genotype AA.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Temporomandibular joint dysfunction syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672884,"variant_haplotypes":"rs145157460","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3461592","article_title":"Effect of the VKORC1 D36Y variant on warfarin dose requirement and pharmacogenetic dose prediction","article_path":"articles/PMC3461592.md","variant_annotation_id":981239905,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":22871975,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with increased dose of warfarin in people with warfarin maintenance treatment as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:warfarin maintenance treatment","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3682424","article_title":"A preliminary pharmacogenetic investigation of adverse events from topiramate in heavy drinkers","article_path":"articles/PMC3682424.md","variant_annotation_id":1184749254,"variant_haplotypes":"rs2832407","gene":"GRIK1","drugs":"topiramate","pmid":19331489,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"75.5% of participants met the criteria for an alcohol use disorder. At target dose (week 5 of treatment), carriers of the A allele had higher serum topiramate levels as compared to those with the CC genotype. No association was seen with dose.","sentence":"Genotypes AA + AC is associated with increased concentrations of topiramate in people with Alcohol-Related Disorders as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166331,"variant_haplotypes":"rs757978","gene":"FARP2","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2715837","article_title":"G-Protein-Coupled Receptor Kinase 4 Polymorphisms and Blood Pressure Response to Metoprolol Among African Americans: Sex-Specificity and Interactions","article_path":"articles/PMC2715837.md","variant_annotation_id":827864069,"variant_haplotypes":"rs1024323","gene":"GRK4","drugs":"metoprolol","pmid":19119263,"phenotype_category":"Efficacy","significance":"no","notes":"This effect was only statistically significant in men, even when stratifying for rs2960306 genotype. Response was measured by time to reach a mean arterial pressure of < or = 107 mm Hg.","sentence":"Genotype CC is not associated with decreased response to metoprolol in women with hypertensive nephrosclerosis as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:hypertensive nephrosclerosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11605493","article_title":"Genetic polymorphisms to identify patients with an optimal response to tildrakizumab in psoriasis patients from real\u2010life clinical practice","article_path":"articles/PMC11605493.md","variant_annotation_id":1452554422,"variant_haplotypes":"rs9373839","gene":"ATG5","drugs":"tildrakizumab","pmid":39081053,"phenotype_category":"Efficacy","significance":"yes","notes":"\"Our data also suggest that patients carrying the genotype GG for rs610604 (TNFAIP3), CTGT/\u2212 for rs72167053 (PDE4D) and CT for rs9373839 (ATG5) had a higher probability to not achieve PASI \u22641 after 12\u2009months of tildrakizumab treatment, while those with CT for rs708567 (IL17RC) have a higher chance to have an optimal response to this treatment.\"","sentence":"Genotype CT is associated with decreased clinical benefit to tildrakizumab in people with Psoriasis as compared to genotypes CC + TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Psoriasis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4155516","article_title":"Voriconazole plasma concentrations in immunocompromised pediatric patients vary by CYP2C19 diplotypes","article_path":"articles/PMC4155516.md","variant_annotation_id":1184748497,"variant_haplotypes":"CYP2C19*1, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":25084200,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"No significant difference in trough concentrations (adjusted for daily dose) was observed. CYP2C19*17 was defined as rs12248560 c.-806C>T, *2A as rs4244285 c.681G>A, *2B as rs4244285 and rs17878459 c.276G>C, and *1 as none of these variants.","sentence":"CYP2C19 *1/*17 (assigned as ultrarapid metabolizer phenotype) is not associated with dose-adjusted trough concentrations of voriconazole in children with Neoplasms as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .","alleles":"*1/*17","specialty_population":"Pediatric","metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3384479","article_title":"Vitamin K antagonists in children with heart disease: height and VKORC1 genotype are the main determinants of the warfarin dose requirement","article_path":"articles/PMC3384479.md","variant_annotation_id":982047897,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":22130800,"phenotype_category":"Dosage","significance":"yes","notes":"Children with at least one variant VKORC1 allele required significantly decreased doses as compared with wild type patients. Weekly maintenance doses in wild type patients (CC) were significantly higher (32 mg) than heterozygotes (CT) (23 mg) and individuals with two variant alleles (TT) (10.6 mg). In a multivariate analysis VKORC1 genotype accounted for 18.2% of the interindividual variability observed with warfarin dose. Alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype TT is associated with decreased dose of warfarin in children as compared to genotype CC.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC8880478","article_title":"Effect of GSTA1 Variants on Busulfan-Based Conditioning Regimen Prior to Allogenic Hematopoietic Stem-Cell Transplantation in Pediatric Asians","article_path":"articles/PMC8880478.md","variant_annotation_id":1452480768,"variant_haplotypes":"rs3957356","gene":"GSTA1","drugs":"busulfan","pmid":35214132,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. \"The carriers of the variant allele GSTA1*B had a lower CL, which in turn reduced the elimination of busulfan; this was associated with increased AUC.\" There are two variants C-69T (rs3957357) and G-52A (rs3957356) which combine to form *A and *B alleles where -69C, -52G, designated as GSTA1*A; -69T, -52A, designated as GSTA1*B.","sentence":"Allele T is associated with decreased clearance of busulfan in children with hematopoietic stem cell transplantation as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6941886","article_title":"Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol","article_path":"articles/PMC6941886.md","variant_annotation_id":1450375609,"variant_haplotypes":"rs79663562","gene":"MYT1L","drugs":"allopurinol","pmid":30924126,"phenotype_category":"Efficacy","significance":"no","notes":"Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment.","sentence":"Allele C is associated with decreased response to allopurinol as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8132880","article_title":"First genome-wide association study on rocuronium dose requirements shows association with SLCO1A2","article_path":"articles/PMC8132880.md","variant_annotation_id":1451404202,"variant_haplotypes":"rs11045995","gene":"IAPP, SLCO1A2","drugs":"rocuronium","pmid":33676726,"phenotype_category":"Dosage","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. Although this association is significant on its own, the authors state that the decrease in dosage requirements is best explained by the combination of the CC genotype at this position with the CC genotype at rs7967354.","sentence":"Genotype CC is associated with decreased dose of rocuronium in women as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359260,"variant_haplotypes":"rs11575553","gene":"DDC","drugs":"heroin","pmid":32736537,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and strength of euphoria on first heroin use.","sentence":"Allele A is not associated with response to heroin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5749368","article_title":"Genetics and clinical response to warfarin and edoxaban in patients with venous thromboembolism","article_path":"articles/PMC5749368.md","variant_annotation_id":1449005283,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":28689179,"phenotype_category":"Dosage","significance":"yes","notes":"CYP2C9 and VKORC1 variants are analyzed together to divide patients into three warfarin sensitivity types (normal, sensitive and highly sensitive). \"Warfarin sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time over-anticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).\"","sentence":"Genotype TT is associated with decreased dose of warfarin in people with venous thromboembolism as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Venous thromboembolism","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC7292331","article_title":"Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test","article_path":"articles/PMC7292331.md","variant_annotation_id":1449715993,"variant_haplotypes":"rs1153702","gene":"ATF2","drugs":"fentanyl","pmid":30106255,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele C is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10668244","article_title":"Genotype-guided new approach for dose optimisation of hydroxychloroquine administration in Chinese patients with SLE","article_path":"articles/PMC10668244.md","variant_annotation_id":1452308548,"variant_haplotypes":"rs10882521","gene":"CYP2C8","drugs":"desethylchloroquine, hydroxychloroquine","pmid":37993281,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The T allele of CYP2C8 (rs10882521) was related to lower HCQ (p=0.009) and DCQ (p=0.008). \"","sentence":"Allele T is associated with decreased concentrations of desethylchloroquine or hydroxychloroquine in people with Lupus Erythematosus, Systemic as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Systemic lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3673300","article_title":"Fixed dose capecitabine is feasible: results from a pharmacokinetic and pharmacogenetic study in metastatic breast cancer","article_path":"articles/PMC3673300.md","variant_annotation_id":1183682292,"variant_haplotypes":"rs11075646","gene":"CES2","drugs":"capecitabine","pmid":23588952,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant differences in the area under the concentration-time curve from 0 to infinity (AUCinf) were seen between any of the genotypes (CC, CG, GG). Nor were any significant differences seen between these genotypes when considering the capecitabine metabolites 5'-DFCR, 5'-DFUR or 5'FU (5'-fluorouracil).","sentence":"Allele C is not associated with metabolism of capecitabine in people with Breast Neoplasms as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3384479","article_title":"Vitamin K antagonists in children with heart disease: height and VKORC1 genotype are the main determinants of the warfarin dose requirement","article_path":"articles/PMC3384479.md","variant_annotation_id":982047927,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"fluindione","pmid":22130800,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with dose of fluindione in children as compared to genotype CC.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4814312","article_title":"Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study","article_path":"articles/PMC4814312.md","variant_annotation_id":1447813633,"variant_haplotypes":"rs79663003","gene":null,"drugs":"lithium","pmid":26806518,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients had been taking lithium for at least 6 mo. Response to lithium was assayed using the Alda scale, which quantifies symptom improvement over time. The scale is from 0-10, with 10 being the highest response score and 0 being the lowest. The authors evaluated response using a dichotomous (=7 is \"responder\" and < 7 is \"non-responder\") and a continuous phenotype (0-10). This SNP was found to be associated with improved response to lithium using the continuous phenotype but not the dichotomous phenotype measure. The association was confirmed in an independent prospective study of 73 patients. This is one of four SNPs in LD that show association (rs79663003, rs78015114, rs74795342, rs75222709).","sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4574839","article_title":"Progressive decline in tacrolimus clearance after renal transplantation is partially explained by decreasing CYP3A4 activity and increasing haematocrit","article_path":"articles/PMC4574839.md","variant_annotation_id":1447673991,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"midazolam","pmid":26114223,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Correcting for methylprednisone dose and type of calcineurin inhibitor (i.e. tacrolimus or cyclosporine).","sentence":"CYP3A4 *1/*22 is associated with decreased clearance of midazolam in people with Kidney Transplantation as compared to CYP3A4 *1/*1.","alleles":"*1/*22","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC3902809","article_title":"Clinical Impact of Cytochrome P450 2C19 Genotype on the Treatment of Invasive Aspergillosis under Routine Therapeutic Drug Monitoring of Voriconazole in a Korean Population","article_path":"articles/PMC3902809.md","variant_annotation_id":1444827966,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":24475354,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Heterozygous extensive (*1/*2, *1/*3) metabolizers had increased trough levels of voriconazole as compared to extensive (*1/*1, *1/*17) metabolizers. The initial voriconazole trough concentrations were 1.8, 2.7, 3.2 mg/L in EM, HEM, and PM, respectively. There was no significant difference when comparing all 3 groups however (p=0.068).","sentence":"CYP2C19 *1/*2 + *1/*3 (assigned as intermediate metabolizer phenotype) is associated with increased trough concentration of voriconazole in people with Hematologic Diseases and Infection as compared to CYP2C19 *1/*1 + *1/*17 (assigned as normal metabolizer phenotype) .","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematologic Disorder, Disease:Infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113800,"variant_haplotypes":"rs1381376","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy. Note that this is a A/C/G/T SNP. Based on allele frequencies reported by dbSNP, it is assumed that the major allele in this study is C and the minor allele is A. Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4000411","article_title":"Conversion from twice- to once-daily tacrolimus in pediatric kidney recipients: a pharmacokinetic and bioequivalence study","article_path":"articles/PMC4000411.md","variant_annotation_id":1444694176,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":24435759,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Note that this was only significant in children taking tacrolimus in twice-daily formulation (Prograf), no significant results were seen for children taking tacrolimus in once-daily formulation (Advagraf; p=0.1). Additionally, no significant results were seen when considering dose-adjusted 0-24 hour area under the tacrolimus concentration-time curve for twice-daily or once-daily formulations (AUC0-24/dose; p=0.07, p=0.1) or dose-adjusted maximum whole-blood tacrolimus concentration for twice-daily or once-daily formulations (Cmax/dose; p=0.54, p=0.28).","sentence":"Genotypes CT + TT is associated with decreased dose-adjusted trough concentrations of tacrolimus in children with Kidney Transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896003,"variant_haplotypes":"rs7802493","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit). Please note, alleles have been complemented to the + chromosomal strand.","sentence":"Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907684,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This SNP had a small effect on cyclophosphamide (CPA) metabolite plasma concentrations (4-OH-CPA), but did not reach significance (Bonferroni corrected p-value= 0.0056).","sentence":"Allele T is not associated with metabolism of cyclophosphamide in people with as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3925114","article_title":"Therapeutic Drug Monitoring and Pharmacogenetic Study of HIV-Infected Ethnic Chinese Receiving Efavirenz-Containing Antiretroviral Therapy with or without Rifampicin-Based Anti-Tuberculous Therapy","article_path":"articles/PMC3925114.md","variant_annotation_id":1184472014,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":24551111,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Patients with the TT genotype had higher plasma efavirenz concentrations compared to patients with the GG genotype: 2.50 mg/L [0.98-10.00] for GG genotype vs 8.78 mg/L [4.77-10.00] for TT genotype; P=0.005.","sentence":"Genotype TT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT","comparison_metabolizer_types":null} -{"pmcid":"PMC10381361","article_title":"Pilot Study: Personalized Medicine in Endoscopy, Can Pharmacogenomics Predict Response to Conscious Sedation?","article_path":"articles/PMC10381361.md","variant_annotation_id":1452197202,"variant_haplotypes":"CYP3A5 poor metabolizer","gene":"CYP3A5","drugs":"fentanyl, meperidine, midazolam","pmid":37511720,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Patients were divided into two groups based on sedation requirements during endoscopy (high vs. normal sedation). The high sedation requirement group was defined by a sedation requirement of midazolam >10 mg, fentanyl >100 mcg, meperidine >100 mg, or an aborted procedure due to failed moderate sedation and/or the transition to propofol sedation to complete the procedure. The normal sedation requirement group was defined as the complete absence of the above conditions that define the high sedation requirement group.\" \"Patients with reduced CYP2C19 metabolism (poor + intermediate metabolizers) (OR = 0.38, 95% CI: 0.16\u20130.91, p = 0.03), poor CYP3A5 metabolism (OR = 0.25, 95% CI: 0.095\u20130.65, p = 0.0046), and poor UGT1A1 (OR = 2.76, 95% CI: 1.07\u20137.13, p = 0.08) had higher odds of requiring normal sedation compared to those with CYP2C19 increased metabolism, CYP3A5 intermediate metabolism, and UGT1A1 intermediate metabolism\"","sentence":"CYP3A5 poor metabolizer is associated with decreased dose of fentanyl, meperidine or midazolam in people with sedation as compared to CYP3A5 intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:sedation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"intermediate metabolizer"} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896213,"variant_haplotypes":"rs506546","gene":"CSMD2","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele T is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449003438,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There is no association between selected SNPs and methotrexate plasma level at 48 h between the first dose of methotrexate infusion. med. MTX concentration: GG+AG (0.45 (0.09\u201341.63)) vs. AA (0.37 (0.12\u20133.91)). Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Genotypes AG + GG are not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA.","alleles":"AG + GG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4350512","article_title":"Genetic markers associated with abstinence length in alcohol-dependent subjects treated with acamprosate","article_path":"articles/PMC4350512.md","variant_annotation_id":1184988683,"variant_haplotypes":"rs2160734","gene":"GRIN2B","drugs":"acamprosate","pmid":25290263,"phenotype_category":"Efficacy","significance":"no","notes":"Tag SNPs (518 total) were selected within genes associated with alcoholism as well as genes encoding enzymes involved in glycine metabolism, glycine transporters, subunits of glycine receptors, NMDA receptors, genes involved in glutamate reuptake, synthesis or degradation and genes with reported associations with acamprosate treatment outcomes in human or animal studies. The length of time to first alcohol use \u201csurvival analysis method\u201d was used to examine associations between clinical variables and genetic markers with efficacy of acomprasate (its ability to length the duration of abstinence from alcohol). The analyses were replicated in a subset of 110 participants from PREDICT, a double-blind randomized controlled trial that compared treatment outcomes including length of abstinence among alcohol- dependent subjects of German descent recruited from inpatient facilities and treated with acamprosate, naltrexone or placebo for 3 months.","sentence":"Allele C is not associated with response to acamprosate in people with Alcoholism as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703731,"variant_haplotypes":"rs113095083","gene":"ILKAP","drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele C is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5538123","article_title":"Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients","article_path":"articles/PMC5538123.md","variant_annotation_id":1450928170,"variant_haplotypes":"rs1176713","gene":"HTR3A","drugs":"risperidone","pmid":28696411,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with response to risperidone in people with Schizophrenia as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11512548","article_title":"Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation","article_path":"articles/PMC11512548.md","variant_annotation_id":1452688940,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":39465171,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alleles complemented. This was seen for both donor and recipient: For donor \"Among CYP3A5 rs776746 carriers, those with AA/AG genotypes have been observed to have lower Tac C/D ratios than GG genotype carriers at weeks 1, 2, 3, 4 (p = 0.005, 0.007, 0.002, <0.001, respectively)\" \"Tac C/D ratios of recipient CYP3A5 rs776746 AA/AG carriers were significantly lower than GG carriers at all investigated time points (p = 0.001, 0.006, 0.005, 0.003, respectively).\"","sentence":"Genotypes CT + TT is associated with decreased concentrations of tacrolimus in people with Liver transplantation as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5908314","article_title":"Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma","article_path":"articles/PMC5908314.md","variant_annotation_id":1449310621,"variant_haplotypes":"rs35305980","gene":"OR2B11","drugs":"axitinib","pmid":29682213,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066).","sentence":"Allele A is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele del.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del","comparison_metabolizer_types":null} -{"pmcid":"PMC5949564","article_title":"NUDT15 R139C Variants Increase the Risk of Azathioprine-Induced Leukopenia in Chinese Autoimmune Patients","article_path":"articles/PMC5949564.md","variant_annotation_id":1449750697,"variant_haplotypes":"rs1142345","gene":"TPMT","drugs":"thioguanine","pmid":29867468,"phenotype_category":"Metabolism/PK","significance":"no","notes":"after treatment with azathioprine and 6-TGN was not significantly different between patients with leukopenia or the controls.","sentence":"Allele C is not associated with concentrations of thioguanine in people with Autoimmune Diseases, Lupus Erythematosus, Systemic and Sjogren's Syndrome as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Autoimmune Diseases, Disease:Systemic lupus erythematosus, Disease:Sjogren's Syndrome","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC9608913","article_title":"Hyper-responsiveness to warfarin in a young patient with the VKORC1 -1639GA/CYP2C9*1*46 genotype: a case report","article_path":"articles/PMC9608913.md","variant_annotation_id":1451927120,"variant_haplotypes":"CYP2C9*1, CYP2C9*46","gene":"CYP2C9","drugs":"warfarin","pmid":36303140,"phenotype_category":"Dosage","significance":"no","notes":"in a case study.","sentence":"CYP2C9 *1/*46 is associated with decreased dose of warfarin.","alleles":"*1/*46","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695419,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1978168","article_title":"The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis","article_path":"articles/PMC1978168.md","variant_annotation_id":982046937,"variant_haplotypes":"CYP2D6*1, CYP2D6*40","gene":"CYP2D6","drugs":"codeine","pmid":17517247,"phenotype_category":"Efficacy","significance":"yes","notes":"Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.","sentence":"CYP2D6 *40 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.","alleles":"*40","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Anemia, Sickle Cell","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2386778","article_title":"Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians","article_path":"articles/PMC2386778.md","variant_annotation_id":1450811671,"variant_haplotypes":"rs553202","gene":"OPRM1","drugs":"ethanol","pmid":18433502,"phenotype_category":"Efficacy","significance":"yes","notes":"Please note that alleles have been complemented to the positive strand. The T allele was associated with increased scores in the dizzy, drunk, high, nausea, terrible and uncomfortable traits on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.","sentence":"Allele T is associated with increased response to ethanol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2042888","article_title":"Characterization of the human cytochrome P450 enzymes involved in the metabolism of dihydrocodeine","article_path":"articles/PMC2042888.md","variant_annotation_id":1451152920,"variant_haplotypes":"CYP2D6*1, CYP2D6*4","gene":"CYP2D6","drugs":"dihydrocodeine","pmid":9431830,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Study of dihydrocodeine metabolism in liver microsomes from three subjects identified as *1/*1, two *1/*4, one phenotyped as a normal metabolizer but no genotype given and one with the *4/*4 genotype, who was designated the only poor metabolizer in the group.CLint of the poor metabolizer was found to be <10% of that in the group of six normal metabolizers.","sentence":"CYP2D6 *4/*4 is associated with decreased metabolism of dihydrocodeine as compared to CYP2D6 *1/*1 + *1/*4.","alleles":"*4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*4","comparison_metabolizer_types":null} -{"pmcid":"PMC4762905","article_title":"Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia","article_path":"articles/PMC4762905.md","variant_annotation_id":1445297279,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"doxorubicin, methotrexate, prednisolone, vincristine","pmid":25582575,"phenotype_category":"Efficacy","significance":"no","notes":"No statistically significant differences in relapse risk were found between the alleles or genotypes of rs1128503. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":"and","population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7319006","article_title":"Influence of SLCO1B1 polymorphisms on lopinavir C trough in Serbian HIV/AIDS patients","article_path":"articles/PMC7319006.md","variant_annotation_id":1451116340,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"lopinavir","pmid":32022294,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele C is associated with increased trough concentration of lopinavir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4833149","article_title":"The pharmacokinetic and pharmacodynamic interaction of clopidogrel and cilostazol in relation to CYP2C19 and CYP3A5 genotypes","article_path":"articles/PMC4833149.md","variant_annotation_id":1446906082,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"clopidogrel","pmid":26426352,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"when clopidogrel is administered in combination with cilostazole. The authors observed no differences in AUC (ng*hr/ml) or Cmax (ng/ml) values of clopidogrel thiol metabolite when comparing between *1/*3 and *3/*3 diplotypes within the same treatment group. Differences in clopidogrel thiol metabolite concentrations were observed when comparing between treatment groups. When clopidogrel and cilostazole were co-administered, this caused a decrease in Cmax (ng/ml) and AUC (ng*hr/ml) within the CYP3A5 *1/*3 group as compared to when clopidogrel was administered alone.","sentence":"CYP3A5 *1/*3 (assigned as intermediate metabolizer phenotype) is associated with metabolism of clopidogrel in healthy individuals.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5485718","article_title":"Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel","article_path":"articles/PMC5485718.md","variant_annotation_id":1448624885,"variant_haplotypes":"rs12456693","gene":"SLC14A2","drugs":"clopidogrel","pmid":27981573,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The CT genotype was associated with increased active metabolite H4 concentration. However, it was not statistically significant.","sentence":"Genotype CT is associated with increased metabolism of clopidogrel as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10377184","article_title":"DRD2, DRD3, and HTR2A Single-Nucleotide Polymorphisms Involvement in High Treatment Resistance to Atypical Antipsychotic Drugs","article_path":"articles/PMC10377184.md","variant_annotation_id":1452200420,"variant_haplotypes":"rs7997012","gene":"HTR2A","drugs":"antipsychotics","pmid":37509727,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The HTR2A rs7997012 A|G vs. A|A genotype (OR = 6.859; B = 1.926; p = 0.046), and; A|G vs. G|G genotype (OR = 2.879; B = 1.057; p = 0.041) significantly predicted the HTR; group membership.\"","sentence":"Genotype AG is associated with increased resistance to antipsychotics in people with Mood Disorders or Schizophrenia as compared to genotypes AA + GG.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Mood Disorder, Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"AA + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC5003027","article_title":"TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics","article_path":"articles/PMC5003027.md","variant_annotation_id":1447979316,"variant_haplotypes":"rs11947402","gene":"TSPAN5","drugs":"serotonin","pmid":26903268,"phenotype_category":"Other","significance":"yes","notes":"in patients taking citalopram or escitalopram. Baseline plasma serotonin concentrations before SSRI therapy, as well as changes in serotonin were used as a biomarker for response to SSRIs and GWAS was done w/respect to changes in plasma serotonin concentration. The G allele was associated with higher baseline plasma serotonin concentrations, as well as greater decreases in plasma serotonin concentrations at 4 and 8 weeks after beginning SSRI therapy.","sentence":"Allele G is associated with decreased concentrations of serotonin in people with Depressive Disorder as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4575538","article_title":"Effects of CYP2B6 and CYP1A2 Genetic Variation on Nevirapine Plasma Concentration and Pharmacodynamics as Measured by CD4 Cell Count in Zimbabwean HIV-Infected Patients","article_path":"articles/PMC4575538.md","variant_annotation_id":1448110413,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"nevirapine","pmid":26348712,"phenotype_category":"Efficacy","significance":"yes","notes":"Nevirapine was given as part of HAART therapy. Efficacy was determined based on CD4 count.","sentence":"Genotype CC is associated with increased response to nevirapine in people with HIV Infections as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC4231027","article_title":"Predictive Value of Interferon-Lambda Gene Polymorphisms for Treatment Response in Chronic Hepatitis C","article_path":"articles/PMC4231027.md","variant_annotation_id":1444665886,"variant_haplotypes":"rs11322783","gene":"IFNL4","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir","pmid":25393304,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients were analyzed by HCV genotype (1,2,3,4). Patients with HCV genotype 1 were divided into groups receiving dual therapy (GT1 (d); peg-intron alpha 2a/b, ribavirn) or triple therapy (GT1 (t); peg-intron alpha 2a/b, ribavirn, telaprevir). Sustained virological response (SVR) is a measure of therapeutic efficacy. Variables that were significant in univariate analysis were included in the multivariate analysis. The authors designated three \"beneficial\" genotypes that were found at higher frequencies in patients who achieved SVR: rs12979860 CC, rs8099917 TT, rs368234815 TT/TT. These genotypes were often found together. 98% of patients with GT1 (d), 100% of patients with GT1(t), 96% of patients with HCV genotype 2, 92% of patients with HCV genotype 3 and 98% of patients with HCV genotype 4 had those genotype combinations.; rs368234815 TT/TT was the only single SNP significant predictor of SVR in patients with HCV genotype 3. Although rs368234815 TT/TT was significantly associated with SVR in univariate analysis, in a multivariate analysis of predictive factors of SVR within all genotype 1 infected patients the TT/TT genotype was not found to be significant. The TT/TT genotype was also associated with increases ALT levels in patients with HCV genotype 2 (p=0.018),3 (p=0.035) and 2/3 (p=0.006) as well as a higher HCV RNA concentration at baseline in GT1 (d) (p<0.001) and GT(t) patients (p=0.007). *Note: TT is a single allele whereas the other allele substitutes TT for a single G so the WT genotype is TT/TT.","sentence":"Genotype TT/TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to genotypes G/TT + GG.","alleles":"TT/TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G/TT + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3727245","article_title":"CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel","article_path":"articles/PMC3727245.md","variant_annotation_id":827922861,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"paclitaxel","pmid":22527101,"phenotype_category":"Efficacy","significance":"no","notes":"This is a C>T/A SNP(positive strand alleles). The OR is given for variant carriers vs. wild-type homozygous patients, without stating which genotypes were found. Response = complete clinical response (cCR). Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel.","sentence":"Allele C is not associated with increased response to paclitaxel in women with Breast Neoplasms.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4557249","article_title":"Association of serotonin transporter (SLC6A4) & receptor (5HTR1A, 5HTR2A) polymorphisms with response to treatment with escitalopram in patients with major depressive disorder: A preliminary study","article_path":"articles/PMC4557249.md","variant_annotation_id":1452040194,"variant_haplotypes":"rs6295","gene":"HTR1A","drugs":"escitalopram","pmid":26261165,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with response to escitalopram Depressive Disorder, Major as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7870766","article_title":"Brain/blood ratios of methadone and ABCB1 polymorphisms in methadone-related deaths","article_path":"articles/PMC7870766.md","variant_annotation_id":1451401900,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"methadone","pmid":33454797,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association between this variant and medulla/blood concentration ratios of methadone. Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with concentrations of methadone as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896165,"variant_haplotypes":"rs17068112","gene":"REPS1","drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5611711","article_title":"Influence of genetic variants on renal uric acid handling in response to frusemide: an acute intervention study","article_path":"articles/PMC5611711.md","variant_annotation_id":1449001741,"variant_haplotypes":"rs2078267","gene":"SLC22A11","drugs":"furosemide","pmid":28951782,"phenotype_category":"Efficacy","significance":"no","notes":"There was no difference in the absolute values of serum urate over the study period between those carrying the C allele versus those that did not.","sentence":"Allele T is not associated with response to furosemide in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC10230242","article_title":"Association between single nucleotide polymorphisms in DNA repair genes and the efficacy of radiotherapy in nasopharyngeal carcinoma patients","article_path":"articles/PMC10230242.md","variant_annotation_id":1452124220,"variant_haplotypes":"rs25487","gene":"XRCC1","drugs":"radiotherapy","pmid":37266339,"phenotype_category":"Efficacy","significance":"no","notes":"alleles complemented.","sentence":"Allele C is not associated with response to radiotherapy in people with Nasopharyngeal Neoplasms as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171099,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of (S)-EDDP as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4702374","article_title":"A multi-factorial analysis of response to warfarin in a UK prospective cohort","article_path":"articles/PMC4702374.md","variant_annotation_id":1447680544,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":26739746,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550292,"variant_haplotypes":"rs362731","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC11509751","article_title":"Bleeding Events Associated with Rivaroxaban Therapy in Naive Patients with Nonvalvular Atrial Fibrillation: A Longitudinal Study from a Genetic Perspective with INR Follow-Up","article_path":"articles/PMC11509751.md","variant_annotation_id":1452654640,"variant_haplotypes":"rs4148738","gene":"ABCB1","drugs":"rivaroxaban","pmid":39459499,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In our study, we found that for ABCB1-related rs4148738 and rs2032582, there was a statistically significant difference between the wild and mutant genotypes and a decrease in the CDR max values of rivaroxaban, while CDRss was statistically significant between the wild and homozygous mutant genotypes. For rs1045642 and rs1128503 of ABCB1, the decreased CDR max and Css levels of rivaroxaban were statistically significant between the wild (AA) and mutant (AG, GG) genotypes. Our findings suggest that polymorphism in the P-glycoprotein expressed by the ABCB1 gene can affect the peak plasma levels of rivaroxaban.\" Was significant for TT v CC not CT v CC","sentence":"Allele T is associated with decreased concentrations of rivaroxaban in people with Atrial Fibrillation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6034060","article_title":"Enantioselective pharmacokinetics of tramadol and its three main metabolites; impact of CYP2D6, CYP2B6, and CYP3A4 genotype","article_path":"articles/PMC6034060.md","variant_annotation_id":1451229680,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*9, CYP2D6*35, CYP2D6*41","gene":"CYP2D6","drugs":"\"n,o-didesmethyltramadol\", \"o-desmethyltramadol\"","pmid":29992026,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The two subjects identified as PMs had smaller AUCs of O-desmethyltramadol and N,O-didesmethyltramadol compared to the other subjects in the cohort. Note that no statistical analysis appears to have been carried out.","sentence":"CYP2D6 *4/*4 + *4/*5 (assigned as poor metabolizer phenotype) are associated with decreased exposure to n,o-didesmethyltramadol or o-desmethyltramadol in healthy individuals as compared to CYP2D6 *1/*1 + *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*9 + *1/*35 + *1/*41 + *2/*5 + *2/*35 + *2/*41 + *4/*35 + *4/*41 (assigned as intermediate metabolizer and normal metabolizer phenotype) .","alleles":"*4/*4 + *4/*5","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*9 + *1/*35 + *1/*41 + *2/*5 + *2/*35 + *2/*41 + *4/*35 + *4/*41","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC3899768","article_title":"SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours","article_path":"articles/PMC3899768.md","variant_annotation_id":1184174881,"variant_haplotypes":"rs11598702","gene":"NT5C2","drugs":"gemcitabine","pmid":24300978,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Gemcitabine, dFdCTP, and dFdU plasma concentrations were measured before (5, 15, 30, 45 min) and after gemcitabine infusion (1, 1.25, 1.5, 2, 6, 24, 48, 72 hrs). Population pharmacokinetic analysis of gemcitabine and metabolites (dFdU, dFdCTP) were performed by non-linear mixed effects modeling. Pharmacokinetics of gemcitabine were described by a two-compartment model. NT5C2 rs11598702 genotype and body surface area of the patient, were significant co-variates in the final pharmacokinetic model to predict rate of gemcitabine clearance in patients.","sentence":"Genotype TT is associated with decreased clearance of gemcitabine as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3902809","article_title":"Clinical Impact of Cytochrome P450 2C19 Genotype on the Treatment of Invasive Aspergillosis under Routine Therapeutic Drug Monitoring of Voriconazole in a Korean Population","article_path":"articles/PMC3902809.md","variant_annotation_id":1444827950,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":24475354,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant difference was seen when comparing poor metabolizers with extensive (*1/*1, *1/*17; p=0.062) or heterozygous extensive (*1/*2, *1/*3; p=0.779) metabolizers. The initial voriconazole trough concentrations were 1.8, 2.7, and 3.2 mg/L in EM, HEM, and PM, respectively. There was no significant difference when comparing all 3 groups either (p=0.068).","sentence":"CYP2C19 *2/*2 + *3/*3 (assigned as poor metabolizer phenotype) is not associated with trough concentration of voriconazole in people with Hematologic Diseases and Infection as compared to CYP2C19 *1/*1 + *1/*17 + *1/*2 + *1/*3.","alleles":"*2/*2 + *3/*3","specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hematologic Disorder, Disease:Infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *1/*2 + *1/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3208318","article_title":"Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma","article_path":"articles/PMC3208318.md","variant_annotation_id":1448634953,"variant_haplotypes":"rs2284220","gene":"CRHR2","drugs":"salbutamol","pmid":18408560,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with decreased response to salbutamol in people with Asthma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6375065","article_title":"An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance","article_path":"articles/PMC6375065.md","variant_annotation_id":1448109681,"variant_haplotypes":"rs28371686","gene":"CYP2C9","drugs":"warfarin","pmid":27121899,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant annotation is part of a dosing algorithm table based on 8 genetic variants.","sentence":"Allele C is associated with dose of warfarin as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4731723","article_title":"TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis","article_path":"articles/PMC4731723.md","variant_annotation_id":1447982703,"variant_haplotypes":"rs35705950","gene":"MUC5B","drugs":"acetylcysteine","pmid":26331942,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical endpoints included death, transplant, hospitalization, or FVC decline, and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center. Alleles given on reverse strand A and G.","sentence":"Genotype TT is not associated with response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Pulmonary Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC10583240","article_title":"Population pharmacokinetic analyses for belzutifan to inform dosing considerations and labeling","article_path":"articles/PMC10583240.md","variant_annotation_id":1452212680,"variant_haplotypes":"CYP2C19 poor metabolizer","gene":"CYP2C19","drugs":"belzutifan","pmid":37596839,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"variants genotyped are not specified, nor are which variants are considered PM. \"A population pharmacokinetic (PK) model was built, using NONMEM\u00ae v7.3, based on demographics/PK data from 3 clinical pharmacology (food effect, formulation bridging, genotype/race effect) and 2 clinical (phase 1 dose escalation/expansion in RCC and other solid tumors; phase 2 in VHL patients) studies.\" \"UGT2B17 and CYP2C19 poor metabolizers (PM) were estimated to have a 3.2-fold higher area under the plasma concentration-time curve (AUC) compared to UGT2B17 extensive metabolizer and CYP2C19 non-PM patients.\"","sentence":"CYP2C19 poor metabolizer is associated with increased concentrations of belzutifan in people with von Hippel-Lindau Disease or Carcinoma, Renal Cell.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:von Hippel-Lindau Disease, Other:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4265416","article_title":"Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl","article_path":"articles/PMC4265416.md","variant_annotation_id":1450821464,"variant_haplotypes":"rs1180012","gene":"P2RX7","drugs":"fentanyl","pmid":25472448,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and 24-h postoperative fentanyl use or perioperative fentanyl use.","sentence":"Allele T is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC1884506","article_title":"Effects of various factors on steady-state plasma concentrations of risperidone and 9-hydroxyrisperidone: lack of impact of MDR-1 genotypes","article_path":"articles/PMC1884506.md","variant_annotation_id":1183620333,"variant_haplotypes":"CYP2D6*1, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*14","gene":"CYP2D6","drugs":"risperidone","pmid":15089809,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study evaluated patients with *1, *4, *5, *10, and *14 alleles. A gene dose effect was observed in that with increasing numbers of variant alleles, higher concentrations of risperidone were seen. Concentrations of the major metabolite, 9-OH-risperidone, and active moiety, risperidone + 9-OH-risperidone, correlated with age, but not with CYP2D6 genotype.","sentence":"CYP2D6 *4 + *5 + *10 +*14 is associated with decreased metabolism of risperidone in people with Schizophrenia as compared to CYP2D6 *1.","alleles":"*4 + *5 + *10 +*14","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4236071","article_title":"Adiponectin Gene Polymorphism rs2241766 T/G Is Associated with Response to Pioglitazone Treatment in Type 2 Diabetic Patients from Southern China","article_path":"articles/PMC4236071.md","variant_annotation_id":1444666932,"variant_haplotypes":"rs266729","gene":"ADIPOQ","drugs":"pioglitazone","pmid":25405601,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as \"any decrease greater than (or equal to) 15%\" of glycated hemoglobin (HbA1C%).","sentence":"Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3571021","article_title":"Effect of age, weight and CYP2C19 genotype on escitalopram exposure","article_path":"articles/PMC3571021.md","variant_annotation_id":1183699996,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"escitalopram","pmid":19841156,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2C19 *1/*2 + *1/*3 + *17/*2 + *17/*3 + *2/*2 + *2/*3 + *3/*3 are associated with decreased clearance of escitalopram in people with Depressive Disorder, Major as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17.","alleles":"*1/*2 + *1/*3 + *17/*2 + *17/*3 + *2/*2 + *2/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17 + *17/*17","comparison_metabolizer_types":null} -{"pmcid":"PMC3598593","article_title":"Effect of Fenofibrate Therapy and ABCA1 Polymorphisms on High Density Lipoprotein Subclasses in the Genetics of Lipid Lowering Drugs and Diet Network","article_path":"articles/PMC3598593.md","variant_annotation_id":982044822,"variant_haplotypes":"rs2230806","gene":"ABCA1","drugs":"fenofibrate","pmid":20346718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the TT genotype had a greater total high-density lipoprotein (HDL) particle concentration (units = umol/L) after fenofibrate treatment for 3 weeks, as compared to patients with the CC genotype.","sentence":"Genotype TT is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699042,"variant_haplotypes":"rs1318383","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC8742641","article_title":"Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes","article_path":"articles/PMC8742641.md","variant_annotation_id":1451672880,"variant_haplotypes":"rs758479488","gene":"CYP2A6","drugs":"nicotine","pmid":34476898,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments.","sentence":"Allele T is associated with decreased metabolism of nicotine as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4184528","article_title":"Ivacaftor in severe cystic fibrosis lung disease and a G551D mutation","article_path":"articles/PMC4184528.md","variant_annotation_id":1449192709,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":25473543,"phenotype_category":"Efficacy","significance":"not stated","notes":"G551D allele. Case report of three patients with the F508del/G551D genotype. Reported improvements in FEV1, body weight, sweat chloride levels and scores in the respiratory domain of the CFQ-R.","sentence":"Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6595468","article_title":"Relevance of CYP2B6 and CYP2D6 genotypes to methadone pharmacokinetics and response in the OPAL study","article_path":"articles/PMC6595468.md","variant_annotation_id":1450374166,"variant_haplotypes":"CYP2D6 poor and ultrarapid metabolizers","gene":"CYP2D6","drugs":"(S)-methadone","pmid":30907440,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"CYP2D6 poor metabolizer and ultrarapid metabolizer are not associated with concentrations of (S)-methadone in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer and ultrarapid metabolizer","is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC7260086","article_title":"OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study","article_path":"articles/PMC7260086.md","variant_annotation_id":1451407512,"variant_haplotypes":"rs6269","gene":"COMT","drugs":"morphine","pmid":31806881,"phenotype_category":"Efficacy","significance":"not stated","notes":"Nominally significant difference in ischemic pain threshold between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.","sentence":"Genotypes AG + GG are associated with increased response to morphine in healthy individuals as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC9584256","article_title":"Influence of UGT1A1 and SLC22A6 polymorphisms on the population pharmacokinetics and pharmacodynamics of raltegravir in HIV-infected adults: a NEAT001/ANRS143 sub-study","article_path":"articles/PMC9584256.md","variant_annotation_id":1452019020,"variant_haplotypes":"rs8175347","gene":"UGT1A1","drugs":"raltegravir","pmid":36266537,"phenotype_category":"Efficacy","significance":"no","notes":"In an analysis of patients randomized to the ritonavir-boosted darunavir plus raltegravir arm in the Phase III NEAT 001/ANRS 143 study, patients with low UGT1A1 activity showed a lower incidence of virological failure at 96 weeks.","sentence":"Genotype (TA)7/(TA)7 is associated with increased response to raltegravir in people with HIV Infections as compared to genotype (TA)6/(TA)6.","alleles":"(TA)7/(TA)7","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"(TA)6/(TA)6","comparison_metabolizer_types":null} -{"pmcid":"PMC5306492","article_title":"Polymorphisms in ABCB1 and CYP19A1 genes affect anastrozole plasma concentrations and clinical outcomes in postmenopausal breast cancer patients","article_path":"articles/PMC5306492.md","variant_annotation_id":1448615000,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"anastrozole","pmid":27747906,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles have been complemented to the positive strand.","sentence":"Genotype GG is not associated with concentrations of anastrozole in women with Breast Neoplasms as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679100,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"methadone","pmid":34910759,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4613195","article_title":"Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation","article_path":"articles/PMC4613195.md","variant_annotation_id":1448099986,"variant_haplotypes":"rs9282564","gene":"ABCB1","drugs":"tacrolimus","pmid":26307985,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Alleles given as the reverse strand G and A. Concentrations measured as trough blood drug concentrations. Differences in concentrations between AG and AA patients were in the first month after transplant. No patients had homozygous GG genotype.","sentence":"Genotype CT is associated with increased concentrations of tacrolimus in people with lung transplantation as compared to genotype TT.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9298338","article_title":"No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients","article_path":"articles/PMC9298338.md","variant_annotation_id":1451809220,"variant_haplotypes":"rs34130495","gene":"SLC22A1","drugs":"morphine","pmid":34599645,"phenotype_category":"Dosage","significance":"no","notes":"Analyzed as part of haplotypes with rs12208357, rs34059508 and rs72552763. No significant association between haplotypes and PCA doses of morphine.","sentence":"Allele A is not associated with dose of morphine in people with Pain, Postoperative as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC1365132","article_title":"Imipramine metabolism in relation to the sparteine and mephenytoin oxidation polymorphisms--a population study","article_path":"articles/PMC1365132.md","variant_annotation_id":1183684336,"variant_haplotypes":"CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5","gene":"CYP2D6","drugs":"imipramine","pmid":7640151,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"The medians of the hydroxylation ratios (i.e. 2-hydroxy-metabolite over parent compound) were higher in extensive metabolizers of sparteine (EMs) as compared with poor metabolizers (PMs). No statistic given, but none of the ratios separated the two phenotypes (EM vs PM) completely.","sentence":"CYP2D6 *3/*4 + *4/*4 + *5/*5 are associated with decreased metabolism of imipramine in healthy individuals as compared to CYP2D6 *1/*1 + *1/*3 + *1/*4.","alleles":"*3/*4 + *4/*4 + *5/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*3 + *1/*4","comparison_metabolizer_types":null} -{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452570024,"variant_haplotypes":"rs1800795","gene":"IL6","drugs":"almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC11059713","article_title":"Therapeutic efficacy of generic artemether\u2013lumefantrine in the treatment of uncomplicated malaria in Ghana: assessing anti-malarial efficacy amidst pharmacogenetic variations","article_path":"articles/PMC11059713.md","variant_annotation_id":1452466160,"variant_haplotypes":"CYP2B6*1, CYP2B6*6, CYP2B6*18","gene":"CYP2B6","drugs":"dihydroartemisinin","pmid":38685044,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"There were significant differences in plasma artemether drug concentrations between CYP2B6*1/*6 and *1/*1 carriers (p\u2009=\u20090.039) with another significant difference observed between plasma DHA metabolite concentrations between CYP2B6*1/*6 versus CYP2B6*1/*1 (p\u2009=\u20090.000) and combined CYP2B6*6/*6\u2009+\u2009*18/*18 versus CYP2B6*1/*1 (p\u2009=\u20090.012).\" \"The analysis combined non-expressor CYP2B6*6/6 and *18/*18 due to their numbers and functional effects.\"","sentence":"CYP2B6 *6/*6 + *18/*18 + *1/*6 is associated with decreased concentrations of dihydroartemisinin in people with Malaria, Falciparum as compared to CYP2B6 *1/*1.","alleles":"*6/*6 + *18/*18 + *1/*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Malaria, Falciparum","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4500334","article_title":"Pharmacogenetics of plasma efavirenz exposure in HIV-infected adults and children in South Africa","article_path":"articles/PMC4500334.md","variant_annotation_id":1446905219,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"efavirenz","pmid":25611810,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"When considered as part of a composite (rs3745274 T, rs28399499 C, and rs4803419 T), the T allele was strongly associated with plasma efavirenz concentrations (plasma [EFV]) [beta=0.28, 95% CI (0.21, 0.35) p=2.4 E-11]. In a final multivariable model the T allele was associated with a 6% increase in plasma [EFV] (beta=0.06). Post-hoc sensitivity analysis, in which two extreme outliers were excluded from analysis (N=111), showed that the T allele was associated with a 12% increase in plasma [EFV]. Multi-level mixed effects models predicted plasma [EFV] as a function of 1) fixed age effect, time after dose, CYP2B6 composite genotype T,C,T and 2) random effects of the individual to account for w/in individual correlations, genotype TT and CT were associated with a 1.4 and 1.2 fold increase in plasma [EFV], respectively.","sentence":"Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele C.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC9820603","article_title":"Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks","article_path":"articles/PMC9820603.md","variant_annotation_id":1452569951,"variant_haplotypes":"rs1800795","gene":"IL6","drugs":"aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen","pmid":36614097,"phenotype_category":"Efficacy","significance":"no","notes":"Please note that alleles have been complemented to the positive strand.","sentence":"Allele G is not associated with clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Migraine without Aura","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5425333","article_title":"Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta\u2010Analysis","article_path":"articles/PMC5425333.md","variant_annotation_id":1448631754,"variant_haplotypes":"rs622342","gene":"SLC22A1","drugs":"metformin","pmid":27859023,"phenotype_category":"Efficacy","significance":"no","notes":"This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.","sentence":"Allele C is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus, Type 2","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11458732","article_title":"Voriconazole therapeutic drug monitoring including analysis of CYP2C19 phenotype in immunocompromised pediatric patients with invasive fungal infections","article_path":"articles/PMC11458732.md","variant_annotation_id":1452582440,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":39240338,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Ctrough of VCZ were significantly higher in NM and IM groups compared with RM, and UM groups.\" Only *2 and *17 were measured.","sentence":"CYP2C19 *1/*1 + *1/*2 (assigned as normal metabolizer and intermediate metabolizer phenotype) is associated with increased dose-adjusted trough concentrations of voriconazole in children with Hematologic Neoplasms or hematopoietic stem cell transplantation as compared to CYP2C19 *1/*17 + *17/*17 (assigned as ultrarapid metabolizer and rapid metabolizer phenotype) .","alleles":"*1/*1 + *1/*2","specialty_population":"Pediatric","metabolizer_types":"normal metabolizer and intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hematologic Neoplasms, Other:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*1/*17 + *17/*17","comparison_metabolizer_types":"ultrarapid metabolizer and rapid metabolizer"} -{"pmcid":"PMC6006403","article_title":"Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma","article_path":"articles/PMC6006403.md","variant_annotation_id":1449577012,"variant_haplotypes":"rs35661809","gene":null,"drugs":"salbutamol","pmid":29509491,"phenotype_category":"Efficacy","significance":"yes","notes":"Direction of the response not explicit stated in the article.","sentence":"Allele G is associated with increased response to salbutamol in children with as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4565152","article_title":"Genetic Variation at the LDL Receptor and HMG CoA Reductase Gene Loci, Lipid Levels, Statin Response, and Cardiovascular Disease Incidence in PROSPER","article_path":"articles/PMC4565152.md","variant_annotation_id":769152906,"variant_haplotypes":"rs1433099","gene":"LDLR","drugs":"pravastatin","pmid":18261733,"phenotype_category":"Efficacy","significance":"not stated","notes":"PROSPER study. Baseline Lipid Values, LDL-C lowering response,trial CHD and CVD outcomes were measured. The response was in terms of LDL-C lowering in men and in incident CHD and CVD risk. 40 mg/day pravastatin.","sentence":"Genotype TT is associated with increased response to pravastatin in people with Vascular Diseases as compared to genotype CC.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Vascular Diseases","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3071070","article_title":"Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study","article_path":"articles/PMC3071070.md","variant_annotation_id":1184747497,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"tenofovir","pmid":21288825,"phenotype_category":"Toxicity","significance":"no","notes":null,"sentence":"Genotypes CT + TT is not associated with increased discontinuation of tenofovir in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"discontinuation of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3938989","article_title":"A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS","article_path":"articles/PMC3938989.md","variant_annotation_id":1183680142,"variant_haplotypes":"rs115501901","gene":"NCOA3","drugs":"salbutamol","pmid":23992748,"phenotype_category":"Efficacy","significance":"yes","notes":"The allele associated with increased response and low frequency is not explicitly stated. Response is increased for carriers of the rare, minor allele. GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.","sentence":"Genotype CT is associated with increased response to salbutamol in children with Asthma as compared to genotype CC.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC2749505","article_title":"Interindividual Variability in Pharmacokinetics of Generic Nucleoside Reverse Transcriptase Inhibitors in TB/HIV Co-infected Ghanaian Patients: UGT2B7*1C is Associated with Faster Zidovudine Clearance and Glucuronidation","article_path":"articles/PMC2749505.md","variant_annotation_id":769259039,"variant_haplotypes":"rs28365062","gene":"UGT2B7","drugs":"zidovudine","pmid":19628728,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The G allele carriers had 57% lower mean AUC (P = .029, unpaired t test), 196% higher mean CL/F (P = .004, unpaired t test; Figure 3B), and 67% shorter mean elimination half-life (P = .030, unpaired t test) compared with A allele carriers","sentence":"Allele G is associated with increased metabolism of zidovudine as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9914414","article_title":"Association between ADAM33 Single-Nucleotide Polymorphisms and Treatment Response to Inhaled Corticosteroids and a Long-Acting Beta-Agonist in Asthma","article_path":"articles/PMC9914414.md","variant_annotation_id":1452015940,"variant_haplotypes":"rs2853209","gene":"ADAM33","drugs":"corticosteroids, selective beta-2-adrenoreceptor agonists","pmid":36766510,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by FEV1 (10.2%) after three months of ICS+LABA. Caution this is an A/T variant in a gene on the minus strand. Since other variants in this paper were measured on the minus/coding strand this has been complemented to the assumed plus chromosomal strand. \"The SNP rs2853209 (TT genotype) showed a significantly lower improvement in FEV1 (4.6%) as compared to the AA genotype, which showed a greater improvement in FEV1 (10.2%) after three months of ICS+LABA.\"","sentence":"Genotype AA is associated with decreased clinical benefit to corticosteroids and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to genotype TT.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Other:Asthma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4137828","article_title":"Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients","article_path":"articles/PMC4137828.md","variant_annotation_id":1184470908,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"tacrolimus","pmid":24528196,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"3 - 12 months post-transplant. In multivariate linear regression analysis, the AAA/AAA haplotype (rs1045642, rs1128503, rs2032582) showed a significant effect on dose-adjusted trough concentrations (C0/D) of tacrolimus (those with the AAA/AAA haplotype have increased C0/D compared to those with non-AAA/AAA haplotypes). In chi-squared analyses, no significant association was seen for trough concentrations or dose. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotype AA is associated with decreased clearance of tacrolimus in people with Kidney Transplantation as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7086280","article_title":"Effect of ADRA2A gene polymorphisms on the anesthetic and analgesic effects of dexmedetomidine in Chinese Han women with cesarean section","article_path":"articles/PMC7086280.md","variant_annotation_id":1451146211,"variant_haplotypes":"rs775887911","gene":"ADRA2A","drugs":"dexmedetomidine","pmid":32256718,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the CC genotype had significantly increased pain thresholds and significantly reduced VAS pain scores post-surgery than women with the CT or TT genotypes. There was no significant difference in pain thresholds between genotype group pre-surgery.","sentence":"Genotypes CT + TT are associated with decreased response to dexmedetomidine in women with Pain, Postoperative as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Pain, Postoperative","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3401172","article_title":"An Acenocoumarol Dosing Algorithm Using Clinical and Pharmacogenetic Data in Spanish Patients with Thromboembolic Disease","article_path":"articles/PMC3401172.md","variant_annotation_id":1448259332,"variant_haplotypes":"rs7412","gene":"APOE","drugs":"acenocoumarol","pmid":22911785,"phenotype_category":"Dosage","significance":"not stated","notes":"This variant was not significantly associated with acenocoumarol dose, though it did explain 1.3% of the variability in dose. Clinical variables (Age, BMI, Enzyme inducers status and Amiodarone status) explained 22% of the variability in dose. This study developed an algorithm for acenocoumarol dosing using clinical and pharmacogenetic data.","sentence":"Allele T is not associated with dose of acenocoumarol.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5391994","article_title":"Impact of the CYP2C19 Genotype on Voriconazole Exposure in Adults with Invasive Fungal Infections","article_path":"articles/PMC5391994.md","variant_annotation_id":1448604929,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":28306618,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The study did not find a significant difference in trough concentration between the NM (*1/*1) (4.27 \u00b1 2.4 mg/l) and the IM/PM (*1/*2 + *2/*17 + *2/*2) (4.13 \u00b1 1.6 mg/l) groups, therefore these groups were combined for comparison. The mean steady-state trough concentrations were 1.35\u00b10.7, 2.97\u00b12.3, and 4.26 \u00b1 2.2 mg/l in patients with the CYP2C19 *17/*17 (UMs), *1/*17 (RMs), and other genotypes, respectively (P=0.02 for both the *17/*17 and *1/*17 genotypes compared with other genotypes. More subjects with the RM/UM phenotype had a subtherapeutic trough concentration (52 vs. 16%, P = 0.0028).","sentence":"CYP2C19 *1/*17 is associated with decreased concentrations of voriconazole in people with Mycoses as compared to CYP2C19 *1/*1 + *1/*2 + *2/*17 + *2/*2.","alleles":"*1/*17","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Mycoses","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*2 + *2/*17 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC3958404","article_title":"The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response","article_path":"articles/PMC3958404.md","variant_annotation_id":1184756078,"variant_haplotypes":"rs9920375","gene":null,"drugs":"platinum","pmid":24643204,"phenotype_category":"Efficacy","significance":"no","notes":"26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.","sentence":"Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lung Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5404990","article_title":"A cis-eQTL in OPRM1 is Associated with Subjective Response to Alcohol and Alcohol Use","article_path":"articles/PMC5404990.md","variant_annotation_id":1450824374,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":28273335,"phenotype_category":"Other","significance":"no","notes":"No significant associations between this variant and reported sensitivity to alcohol overall, during the last three-month period of drinking, during the participants' first five drinking episodes or at the period of heaviest drinking in their lives; or with reported or experimental sensitivity to the sedating or stimulatory effects of alcohol or subjective intoxication.","sentence":"Genotypes AG + GG are not associated with response to ethanol as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6408006","article_title":"Correlation of P2RX7 gene rs1718125 polymorphism with postoperative fentanyl analgesia in patients with lung cancer","article_path":"articles/PMC6408006.md","variant_annotation_id":1450934857,"variant_haplotypes":"rs1718125","gene":"P2RX7","drugs":"fentanyl","pmid":30762755,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the CT or TT genotypes had significantly increased postoperative fentanyl consumption at 6, 24 and 48 hours after surgery. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes CT + TT are associated with increased dose of fentanyl in people with Lung Neoplasms and Pain, Postoperative as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC9321338","article_title":"Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients","article_path":"articles/PMC9321338.md","variant_annotation_id":1452110218,"variant_haplotypes":"rs4548","gene":"RAB7A","drugs":"vincristine","pmid":35884569,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in a subset of study of vincristine-induced peripheral neuropathy with PK measurements.","sentence":"Genotype CT is associated with increased exposure to vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to genotype CC.","alleles":"CT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Acute lymphoblastic leukemia, Other:Hodgkin Disease, Other:Rhabdomyosarcoma, Other:Medulloblastoma, Other:Glioma","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5546927","article_title":"The Effect of Gene Variants on Levonorgestrel Pharmacokinetics when Combined with Antiretroviral Therapy containing Efavirenz or Nevirapine","article_path":"articles/PMC5546927.md","variant_annotation_id":1448684688,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":28187506,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"in patients treated with levonorgestrel implant plus efavirenz. \"C12-14h values were 2.1, 2.6, and 8.7 mg/L in GG, GT, and TT genotype groups, respectively (76% difference between homozygote groups).\"","sentence":"Genotypes GT + TT are associated with increased concentrations of efavirenz in women with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6801039","article_title":"Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone","article_path":"articles/PMC6801039.md","variant_annotation_id":1451121694,"variant_haplotypes":"rs6473797","gene":"OPRK1","drugs":"oxycodone","pmid":31493434,"phenotype_category":"Efficacy","significance":"no","notes":"No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.","sentence":"Allele T is not associated with response to oxycodone as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5207665","article_title":"Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients","article_path":"articles/PMC5207665.md","variant_annotation_id":1448995793,"variant_haplotypes":"rs1375668","gene":"ANGPT2","drugs":"bevacizumab","pmid":28045923,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC3944116","article_title":"Effect of CYP3A4*22, CYP3A5*3, and CYP3A Combined Genotypes on Cyclosporine, Everolimus, and Tacrolimus Pharmacokinetics in Renal Transplantation","article_path":"articles/PMC3944116.md","variant_annotation_id":1184470962,"variant_haplotypes":"CYP3A4*1, CYP3A4*22","gene":"CYP3A4","drugs":"cyclosporine","pmid":24522145,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Carriers of the *22 allele had 15% lower clearance compared with non-carriers. CYP3A4*22 explained 4% of the variability in cyclosporine clearance.","sentence":"CYP3A4 *1/*1 is associated with increased clearance of cyclosporine in people with Kidney Transplantation as compared to CYP3A4 *1/*22 + *22/*22.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*22 + *22/*22","comparison_metabolizer_types":null} -{"pmcid":"PMC5029084","article_title":"NUDT15 Polymorphisms Alter Thiopurine Metabolism and Hematopoietic Toxicity","article_path":"articles/PMC5029084.md","variant_annotation_id":1447945146,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5","gene":"NUDT15","drugs":"mercaptopurine","pmid":26878724,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"NUDT15 converts thioguanosine triphosphate (TGTP) into thioguanosine monophosphate (TGMP), preventing the incorporation of thiopurine metabolites into DNA (DNA-TG), and thereby negatively regulating thiopurine activation and resulting cytotoxicity. The ratio of DNA-TG (in white blood cells) to mercaptopurine dosage was assessed (that is, the amount of DNA-TG converted from every unit mercaptopurine dose). Two cohorts were used: Singaporean and Japanese. Those with the *1/*1 genotype (normal activity) had the lowest ratio, followed by those with *1/*3 or *1/*5 genotype (intermediate activity) and then the *2/*3, *3/*3 or *3/*5 genotype (low activity).","sentence":"NUDT15 *1/*1 (assigned as high activity phenotype) is associated with increased metabolism of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*3 + *1/*5 + *2/*3 + *3/*3 + *3/*5 (assigned as intermediate and low activity phenotype) .","alleles":"*1/*1","specialty_population":"Pediatric","metabolizer_types":"high activity","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*3 + *1/*5 + *2/*3 + *3/*3 + *3/*5","comparison_metabolizer_types":"low activity and intermediate activity"} -{"pmcid":"PMC3555879","article_title":"ABCB1 Variation and Treatment Response in AIDS Patients: Initial Results of the Henan Cohort","article_path":"articles/PMC3555879.md","variant_annotation_id":982045444,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"lamivudine, nevirapine, zidovudine","pmid":23372834,"phenotype_category":"Efficacy","significance":"not stated","notes":"This paper was unclear as to which allele was associated with increased or decreased response as measured by change in CD4+ T cell counts. The significance of this association was greater if rs1045642 was included.","sentence":"Allele A is associated with response to lamivudine, nevirapine or zidovudine in people with HIV Infections as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5412025","article_title":"Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities","article_path":"articles/PMC5412025.md","variant_annotation_id":1449171109,"variant_haplotypes":"rs8192719","gene":"CYP2B6","drugs":"S-EDDP","pmid":28184434,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele T is not associated with concentrations of (S)-EDDP as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4833150","article_title":"Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4\u2010hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus","article_path":"articles/PMC4833150.md","variant_annotation_id":1446907636,"variant_haplotypes":"rs4802101","gene":"CYP2B6","drugs":"cyclophosphamide","pmid":26456622,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"The plasma concentration of cyclophosphamide (CPA) 20 hours post dose (C20h) was not significantly different between genotypes, but plasma concentrations of the active CPA metabolite of 4-OH-CPA was significantly influenced by CYP2B6 -750T>C and CYP2C19*2 genotype (p<0.001). Patients with CYP2B6 -750TT genotype had significantly higher 4-OH-CPA concentration (C20h median= 20.9 ng/mL) as compared to the TC and CC genotype (C20h median=12.4 and 10.2 ng/ml, respectively).","sentence":"Allele C is associated with decreased metabolism of cyclophosphamide in people with Lupus erythematosus as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Lupus erythematosus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2757655","article_title":"Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans","article_path":"articles/PMC2757655.md","variant_annotation_id":1447519684,"variant_haplotypes":"rs7294","gene":"VKORC1","drugs":"warfarin","pmid":18466099,"phenotype_category":"Dosage","significance":"yes","notes":"in European Americans.","sentence":"Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC3910794","article_title":"Pharmacometric Characterization of Efavirenz Developmental Pharmacokinetics and Pharmacogenetics in HIV-Infected Children","article_path":"articles/PMC3910794.md","variant_annotation_id":1184233697,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":24145522,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Authors describe a population pharmacokinetics covariate model for efavirenz which included the effect of the TT genotype on oral clearance.","sentence":"Genotype TT is associated with decreased clearance of efavirenz in children with HIV Infections.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4949007","article_title":"CYP2D6 function moderates the pharmacokinetics and pharmacodynamics of 3,4-methylene-dioxymethamphetamine in a controlled study in healthy individuals","article_path":"articles/PMC4949007.md","variant_annotation_id":1448109032,"variant_haplotypes":"CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*10, CYP2D6*41","gene":"CYP2D6","drugs":"3,4-methylenedioxymethamphetamine","pmid":27253829,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Alteration in plasma MDMA levels was seen up to 3 h after drug administration but not beyond. Higher Cmax values in CYP2D6 poor metabolizers (PMs) compared with extensive metabolizers (EMs). PMs showing higher AUC6(up to 6hr) values compared with EMs. The Cmax and AUC6 of 3,4-methylene-dioxyamphetamine (MDA) varied across genotypes (F2,136 = 8.82, P < 0.01, and F2,136 = 9.09, P < 0.001, respectively), which were higher in PMs compared with intermediate metabolizers (IMs; P < 0.001) and EMs (P < 0.001).","sentence":"CYP2D6 *4/*4 + *3/*5 is associated with decreased metabolism of 3,4-methylenedioxymethamphetamine as compared to CYP2D6 *1/*4 + *1/*3 + *1/*6 + *2/*4 + *2/*5 + *9/*10 + *1/*41 + *1/*10 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2.","alleles":"*4/*4 + *3/*5","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*4 + *1/*3 + *1/*6 + *2/*4 + *2/*5 + *9/*10 + *1/*41 + *1/*10 + *1/*9 + *2/*10 + *2/*41 + *1/*1 + *1/*2 + *2/*2","comparison_metabolizer_types":null} -{"pmcid":"PMC4519823","article_title":"Dependence of erythromycin metabolism on ABCC2 (MRP2) transport function","article_path":"articles/PMC4519823.md","variant_annotation_id":769258956,"variant_haplotypes":"rs717620","gene":"ABCC2","drugs":"erythromycin","pmid":21451505,"phenotype_category":"Other, Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with increased metabolism of erythromycin as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC3172251","article_title":"IL28B, HLA-C, and KIR Variants Additively Predict Response to Therapy in Chronic Hepatitis C Virus Infection in a European Cohort: A Cross-Sectional Study","article_path":"articles/PMC3172251.md","variant_annotation_id":1448995614,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2b, ribavirin","pmid":21931540,"phenotype_category":"Efficacy","significance":"yes","notes":"Response to treatment assessed by whether patients had successfully cleared the virus after six months of therapy.","sentence":"Allele G is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to allele T.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4201132","article_title":"Gene Variants in CYP2C19 Are Associated with Altered In Vivo Bupropion Pharmacokinetics but Not Bupropion-Assisted Smoking Cessation Outcomes","article_path":"articles/PMC4201132.md","variant_annotation_id":1184985784,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"bupropion","pmid":25187485,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Healthy volunteers were given 150 mg of bupropion once a day for 7 days. On day 7 plasma samples were taken every 4 hours for a 24-hour period as well as a complete urine sample. Individuals with at least one CYP2C19*2 allele had a higher steady-state plasma area under the plasma concentration-time curve for bupropion, erythrohydrobupropion and theohydrobupropion as compared to CYP2C19*1. Hydroxybupropion was not significantly different between CYP2C19*1 and CYP2C19*2.","sentence":"CYP2C19 *2 is associated with increased exposure to bupropion in healthy individuals as compared to CYP2C19 *1.","alleles":"*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5612381","article_title":"CYP2B6 Genotypes and Early Efavirenz-based HIV Treatment Outcomes in Botswana","article_path":"articles/PMC5612381.md","variant_annotation_id":1448636173,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"efavirenz","pmid":28692529,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"This is for CYP2B6 516G>T.","sentence":"Genotypes GT + TT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG.","alleles":"GT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7497848","article_title":"Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer","article_path":"articles/PMC7497848.md","variant_annotation_id":1449001814,"variant_haplotypes":"rs760370","gene":"SLC29A1","drugs":"tipiracil hydrochloride, trifluridine","pmid":28992563,"phenotype_category":"Efficacy","significance":"yes","notes":"The G allele was tested for association alone and with two other SNPs after univariate and multivariate analysis in training (N= 52, Japan) and testing cohorts (N = 127, Italy). It was associated with improved progression-free and overall survival in the training and testing cohorts after univariate and multivariate analyses. When tested with other SNPs (rs2289669 G>A and rs316019 A>C) it was also associated with overall, but not progression-free survival.","sentence":"Genotypes AG + GG is associated with increased response to tipiracil hydrochloride and trifluridine in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC2652833","article_title":"A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose","article_path":"articles/PMC2652833.md","variant_annotation_id":827641903,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":19300499,"phenotype_category":"Dosage, Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5944577","article_title":"Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People","article_path":"articles/PMC5944577.md","variant_annotation_id":1449170836,"variant_haplotypes":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes","gene":"CYP2D6","drugs":"endoxifen","pmid":29436156,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"CYP2D6 poor metabolizer and intermediate metabolizer genotypes are associated with concentrations of endoxifen in women with Breast Neoplasms.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930293,"variant_haplotypes":"rs578776","gene":"CHRNA3","drugs":"nicotine","pmid":26010901,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The A allele of s578776 was significantly associated with 8% lower cotinine levels, but the association was no longer significant after adjusting for rs16969968 (the per allele effect size was -8.2 ng/mL, CI = -20.24\u20133.93 and P = 0.19 vs. -18.9 ng/mL without adjustment P = 0.002 ).","sentence":"Allele A is not associated with dose of nicotine in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3858547","article_title":"High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients","article_path":"articles/PMC3858547.md","variant_annotation_id":1184512528,"variant_haplotypes":"rs2725252","gene":"ABCG2","drugs":"imatinib","pmid":24123600,"phenotype_category":"Efficacy","significance":"yes","notes":"Individuals with the AC or CC genotype had a higher cumulative incidence of major molecular response (CI-MMR, estimated using Sokal score) after 18 months of treatment with a 400mg/day dose of imatinib, as compared to those with the AA genotype. No significant results were seen when considering patients taking a 600mg/day dose (n=107; p < 0.74). The authors note that they used the Benjamini and Hochberg method for multiple testing issues. Please also note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AC + CC is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5465325","article_title":"The impact of CES1 genotypes on the pharmacokinetics of methylphenidate in healthy Danish subjects","article_path":"articles/PMC5465325.md","variant_annotation_id":1448573551,"variant_haplotypes":"rs71647871","gene":"CES1","drugs":"methylphenidate","pmid":28087982,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Metabolism assessed through AUC.","sentence":"Allele T is associated with decreased metabolism of methylphenidate in healthy individuals as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5883590","article_title":"Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome","article_path":"articles/PMC5883590.md","variant_annotation_id":1449748447,"variant_haplotypes":"rs1128503","gene":"ABCB1","drugs":"tacrolimus","pmid":29615122,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the AA genotype had a higher effectiveness of clinical treatment as compared to those with the AG or GG genotypes. Effective response included patients with complete or partial remission, and ineffective response included patients with no remission or recurrence.","sentence":"Genotype AA is associated with increased response to tacrolimus in people with Nephrotic Syndrome as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Nephrotic Syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10196221","article_title":"Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study","article_path":"articles/PMC10196221.md","variant_annotation_id":1452107367,"variant_haplotypes":"rs13224758","gene":"PRKAG2","drugs":"rivaroxaban","pmid":37203300,"phenotype_category":"Toxicity","significance":"no","notes":"as measured by peak anti\u2010FXa level. Association described as \"suggestive\". \"The incidence of bleeding events were significantly related to the peak anti\u2010FXa level, which were significantly increased in patients with bleeding events than in those without\"","sentence":"Allele G is associated with increased response to rivaroxaban in people with Atrial Fibrillation as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Atrial Fibrillation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2292110","article_title":"Associations Between SNPs in Toll-like Receptors and Related Intracellular Signaling Molecules and Immune Responses to Measles Vaccine: Preliminary Results","article_path":"articles/PMC2292110.md","variant_annotation_id":608431157,"variant_haplotypes":"rs3775291","gene":"TLR3","drugs":"Measles vaccines","pmid":18325643,"phenotype_category":"Efficacy","significance":"yes","notes":"compared to both homozygous genotypes","sentence":"Genotype CT is associated with decreased response to Measles vaccines as compared to genotype CC.","alleles":"CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144244,"variant_haplotypes":"rs6728642","gene":"FAM178B","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5266160","article_title":"Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC5266160.md","variant_annotation_id":1448567637,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":28079798,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"CYP2C9 *1/*3 + *3/*3 are associated with decreased dose of warfarin in people with heart valve replacement as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002181,"variant_haplotypes":"rs2242480","gene":"CYP3A4","drugs":"clopidogrel, clopidogrel thiol metabolite H4","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele T is not associated with exposure to clopidogrel or clopidogrel thiol metabolite H4 as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3734199","article_title":"XRCC3 Thr241Met Polymorphism and Clinical Outcomes of NSCLC Patients Receiving Platinum-Based Chemotherapy: A Systematic Review and Meta-Analysis","article_path":"articles/PMC3734199.md","variant_annotation_id":1184511758,"variant_haplotypes":"rs861539","gene":"XRCC3","drugs":"Platinum compounds","pmid":23940523,"phenotype_category":"Efficacy","significance":"not stated","notes":null,"sentence":"Allele A is not associated with response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6631360","article_title":"A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform","article_path":"articles/PMC6631360.md","variant_annotation_id":655388232,"variant_haplotypes":"rs1871450","gene":"CHST3","drugs":"docetaxel, thalidomide","pmid":20038957,"phenotype_category":"Efficacy","significance":"yes","notes":"(allele inferred by frequency comparison with data in pgkb, actual base not listed in paper)","sentence":"Allele A is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Prostatic Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC7423195","article_title":"Impact of ABCG2 polymorphisms on the clinical outcome and toxicity of gefitinib in non-small-cell lung cancer patients","article_path":"articles/PMC7423195.md","variant_annotation_id":827784411,"variant_haplotypes":"rs2622604","gene":"ABCG2","drugs":"gefitinib","pmid":21332310,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Genotype TT is not associated with increased response to gefitinib in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Non-Small Cell Lung Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC5583388","article_title":"Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects","article_path":"articles/PMC5583388.md","variant_annotation_id":1450376573,"variant_haplotypes":"rs28386840","gene":"SLC6A2","drugs":"methylphenidate","pmid":28871191,"phenotype_category":"Efficacy","significance":"no","notes":"Clinical Global Impression-Severity (CGI-S) scale and the Children\u2019s Global Assessment Scale (CGAS).","sentence":"Allele T is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A.","alleles":"T","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC6501809","article_title":"Pharmacokinetic-Pharmacodynamic interaction associated with venlafaxine-XR remission in patients with major depressive disorder with history of citalopram / escitalopram treatment failure","article_path":"articles/PMC6501809.md","variant_annotation_id":1451888500,"variant_haplotypes":"CYP2D6 ultrarapid metabolizer phenotype","gene":"CYP2D6","drugs":"venlafaxine","pmid":30578947,"phenotype_category":"Efficacy","significance":"not stated","notes":"In citalopram non-remission subjects venlafaxine-XR remission was associated with CYP2D6 metabolism phenotype (p = 0.027). Specifically, remission rates were higher among UM (n=5, 71.4%) in comparison to CYP2D6 PM (n=1, 10%).","sentence":"CYP2D6 ultrarapid metabolizer is associated with increased response to venlafaxine as compared to CYP2D6 poor metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"poor metabolizer"} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438700,"variant_haplotypes":"rs4682844","gene":"CCDC12","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6.0E-7.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5531276","article_title":"Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy","article_path":"articles/PMC5531276.md","variant_annotation_id":981478561,"variant_haplotypes":"rs1061170","gene":"CFH","drugs":"Photodynamic therapy","pmid":18292785,"phenotype_category":"Efficacy","significance":"yes","notes":"Visual acuity post-PDT was significantly worse in patients with the TT genotype than for patients with either the TC or CC genotype. This is interesting because having the C allele puts patients at higher risk of developing age-related macular degeneration. While this association with PDT was found to be true for the cohort overall (P=0.05), when subjects were separated based on lesion type, significance was only found in patients with predominantly classic lesions, not in those with occult lesions.","sentence":"Genotype TT is associated with decreased response to photodynamic therapy in people with Macular Degeneration as compared to genotypes CC + CT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC + CT","comparison_metabolizer_types":null} -{"pmcid":"PMC4473094","article_title":"Impact of polymorphisms of the GGCX gene on maintenance warfarin dose in Chinese populations: Systematic review and meta-analysis","article_path":"articles/PMC4473094.md","variant_annotation_id":1444936324,"variant_haplotypes":"rs699664","gene":"GGCX","drugs":"warfarin","pmid":26106580,"phenotype_category":"Dosage","significance":"no","notes":"This meta-analysis in Chinese patients showed no difference in mean daily warfarin dose (MDWD) for various genotypes of GGCX variant rs699664.","sentence":"Allele T is not associated with dose of warfarin as compared to genotype CC.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613208,"variant_haplotypes":"rs4646437","gene":"CYP3A4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in CYP3A5 nonexpressors but not in CYP3A5 expressers. The time of measurement was 90 days after transplantation. Day 7 and day 30 after transplantation did not show a significant association, though the same trend was seen.","sentence":"Genotype GG is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3522814","article_title":"Pharmacogenetic markers of CYP2B6 associated with efavirenz plasma concentrations in HIV-1 infected Thai adults","article_path":"articles/PMC3522814.md","variant_annotation_id":1448993954,"variant_haplotypes":"rs8100458","gene":"CYP2B6","drugs":"efavirenz","pmid":22471906,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotypes CT + TT are not associated with concentrations of efavirenz in people with HIV Infections as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6049926","article_title":"No association between IFNL3 (IL28B) genotype and response to peginterferon alfa-2a in HBeAg-positive or -negative chronic hepatitis B","article_path":"articles/PMC6049926.md","variant_annotation_id":1449713186,"variant_haplotypes":"rs12980275","gene":"IFNL3","drugs":"peginterferon alfa-2a","pmid":30016335,"phenotype_category":"Efficacy","significance":"no","notes":"The authors found no association between IFNL3 genotype and peginterferon 2a response in either HBeAg-positive or HBeAg-negative chronic hepatitis B patients, in both Asian and White patients.","sentence":"Genotype AA is not associated with response to peginterferon alfa-2a in people with Hepatitis B, Chronic as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis B, Chronic","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874620,"variant_haplotypes":"rs4148323","gene":"UGT1A1","drugs":"clozapine","pmid":40048458,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"In the model adjusted for clinical predictors of clozapine concentration, including smoking status and cumulative dose of clozapine, five SNPs (rs28371726 and rs202102799 in CYP2D6; rs4148323 and rs34946978 in UGT1A1; and rs2011404 in UGT1A4) showed significant associations with clozapine concentration. The rs number for each SNP associated with clozapine concentration is shown in Table 3.\" Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and decreased concentration (beta value in table is negative).","sentence":"Allele A is associated with decreased concentrations of clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3143437","article_title":"Factors influencing plasma nevirapine levels: a study in HIV-infected children on generic antiretroviral treatment in India","article_path":"articles/PMC3143437.md","variant_annotation_id":827849230,"variant_haplotypes":"rs3745274","gene":"CYP2B6","drugs":"nevirapine","pmid":21393201,"phenotype_category":"Toxicity, Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotype TT is associated with decreased clearance of nevirapine in children with HIV Infections as compared to genotypes GG + GT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3029819","article_title":"OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users","article_path":"articles/PMC3029819.md","variant_annotation_id":981483940,"variant_haplotypes":"rs622342","gene":"SLC22A1","drugs":"amantadine, Anticholinergics, levodopa, selegiline","pmid":20680652,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"For each copy of the C allele, between the first and fifth levodopa prescriptions, the sum of the prescribed doses of all anti-Parkinsonian drugs were 0.34 defined daily dose higher (There was no change seen for the doses of dopamine agonists.)","sentence":"Allele C is associated with increased dose of amantadine, Anticholinergics, levodopa or selegiline in people with Parkinson Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Parkinson Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2792638","article_title":"Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial","article_path":"articles/PMC2792638.md","variant_annotation_id":982048062,"variant_haplotypes":"rs4344","gene":"ACE","drugs":"ramipril","pmid":17885551,"phenotype_category":"Efficacy","significance":"yes","notes":"This SNP was also reported as ACE G12269A. This SNP was in linkage disequilibrium with the ACE Ins/Del (rs1799752), D' = .98, and rs4359, D' = .88. Patients homozygous for this SNP (AA or GG) responded to ACE inhibitor treatment (reached target blood pressure) almost twice as fast as patients heterozygous (AG) for this SNP.","sentence":"Genotypes AA + GG are associated with increased response to ramipril in people with Hypertension as compared to genotype AG.","alleles":"AA + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG","comparison_metabolizer_types":null} -{"pmcid":"PMC4872428","article_title":"Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes","article_path":"articles/PMC4872428.md","variant_annotation_id":1447949447,"variant_haplotypes":"rs2069062","gene":"GRM7","drugs":"risperidone","pmid":26905411,"phenotype_category":"Efficacy","significance":"yes","notes":"Psychotic-naive or minimal antipsychotic exposure. Improvement measured with Brief Psychiatric Rating Scale.","sentence":"Genotype CC is associated with increased response to risperidone in people with as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449162946,"variant_haplotypes":"rs1057868","gene":"POR","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"no","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.","sentence":"Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3292264","article_title":"Exploration of CYP450 and drug transporter genotypes and correlations with nevirapine exposure in Malawians","article_path":"articles/PMC3292264.md","variant_annotation_id":827823838,"variant_haplotypes":"rs1523130","gene":"NR1I2","drugs":"nevirapine","pmid":22111602,"phenotype_category":"Dosage, Metabolism/PK","significance":"no","notes":"no association with PK parameters area under the concentration time curve or apparent oral clearance of the drug. [stat_test: univariate and multiple linear regression]","sentence":"Genotypes CC + CT are not associated with decreased clearance of nevirapine in people with HIV Infections as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4938133","article_title":"5-HTR1A and 5-HTR2A genetic polymorphisms and SSRI antidepressant response in depressive Chinese patients","article_path":"articles/PMC4938133.md","variant_annotation_id":1452039884,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"citalopram, fluoxetine, paroxetine, sertraline","pmid":27445478,"phenotype_category":"Efficacy","significance":"no","notes":"Response/remission measured using HAMD.","sentence":"Allele A is not associated with response to citalopram, fluoxetine, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11884701","article_title":"Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia","article_path":"articles/PMC11884701.md","variant_annotation_id":1452874735,"variant_haplotypes":"rs762502","gene":"DRD4","drugs":"clozapine","pmid":40048458,"phenotype_category":"Efficacy","significance":"yes","notes":"Alleles complemented. Table does not state which allele or direction of effect for these SNPs, so assuming minor allele and benefit, PANSS beta is in Table negative. \"four SNPs in two genes were significantly associated with the total PANSS score: rs7787082 and rs10248420 in ABCB1 and rs2133251840 and rs762502 in DRD4 (Table 5). Among these, only one SNP in DRD4 (rs2133251840) resulted in different total PANSS scores at visits 3 and 4 according to its genotype\"","sentence":"Allele C is associated with increased clinical benefit to clozapine in people with Schizophrenia or Psychotic Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia, Other:Psychotic Disorder","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8599229","article_title":"An association of ABCG8: rs11887534 polymorphism and HDL-cholesterol response to statin treatment in the Polish population","article_path":"articles/PMC8599229.md","variant_annotation_id":1451569620,"variant_haplotypes":"rs11887534","gene":"ABCG8","drugs":"atorvastatin, simvastatin","pmid":34173968,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The only significant differences between both genotype groups of patients; concerned HDL-C concentrations after statin use as well; as absolute and relative changes in HDL-C concentrations.; In contrast to GG homozygotes, patients with GC + CC; genotypes showed a decrease in post-statin HDL-C concentrations, and negative absolute and relative differences; in HDL-C concentrations \"","sentence":"Genotypes CC + CG is associated with decreased clinical benefit to atorvastatin or simvastatin in people with Dyslipidaemia as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Dyslipidaemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC2564574","article_title":"Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation","article_path":"articles/PMC2564574.md","variant_annotation_id":827647045,"variant_haplotypes":"rs9934438","gene":"VKORC1","drugs":"warfarin","pmid":16611750,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased dose of warfarin as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC9468644","article_title":"The impact of CYP2D6*41 on CYP2D6 enzyme activity using phenotyping methods in urine, plasma, and saliva","article_path":"articles/PMC9468644.md","variant_annotation_id":1452854143,"variant_haplotypes":"CYP2D6*41","gene":"CYP2D6","drugs":"dextromethorphan","pmid":36110554,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"Statistically significant increases were observed in the salivary, plasma, and urinary MR values in subjects with CYP2D6*1(or *2)/*1(or *2), *1 (or *2)/*41, *10/*41, and *5/*41 (all p values < 0.05). This result means that as compared with the wild type, one CYP2D6*41 allele combined with one full function allele will significantly reduce the enzyme activity. Likewise, one CYP2D6*41 allele combined with one reduced function allele and one CYP2D6*41 allele combined with one nonfunctional allele will reduce the enzyme activity further and further with statistical significance.\"; CYP2D6*1/*2 (n = 33), CYP2D6*2/*2 (n = 4), CYP2D6*1/*41 (n = 5), CYP2D6*2/*41 (n = 3), CYP2D6*10/*41 (n = 16), and CYP2D6*5/*41 (n = 4)","sentence":"CYP2D6 *41 is associated with decreased metabolism of dextromethorphan in healthy individuals.","alleles":"*41","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC5789875","article_title":"Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder","article_path":"articles/PMC5789875.md","variant_annotation_id":1449166128,"variant_haplotypes":"rs11559290","gene":"ETFDH","drugs":"methylphenidate","pmid":29382897,"phenotype_category":"Efficacy","significance":"no","notes":"The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.","sentence":"Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Attention Deficit Disorder with Hyperactivity","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4703773","article_title":"An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3\u2032-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients","article_path":"articles/PMC4703773.md","variant_annotation_id":1447680740,"variant_haplotypes":"rs4803419","gene":"CYP2B6","drugs":"efavirenz","pmid":26779253,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC9830790","article_title":"A two-stage genome-wide association study identifies novel germline genetic variations in CACNA2D3 associated with radiotherapy response in nasopharyngeal carcinoma","article_path":"articles/PMC9830790.md","variant_annotation_id":1451987900,"variant_haplotypes":"rs11130424","gene":"CACNA2D3","drugs":"radiotherapy","pmid":36624463,"phenotype_category":"Efficacy","significance":"yes","notes":"\"The G allele carriers were more resistant to radiotherapy\" \"The efficacy was better in minor allele carriers of rs11130424 than major allele\"","sentence":"Genotypes AG + GG is associated with increased resistance to radiotherapy in people with Nasopharyngeal Neoplasms as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Nasopharyngeal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC1474035","article_title":"Variation in the Gene Encoding the Serotonin 2A Receptor Is Associated with Outcome of Antidepressant Treatment","article_path":"articles/PMC1474035.md","variant_annotation_id":1452040207,"variant_haplotypes":"rs6311","gene":"HTR2A","drugs":"citalopram","pmid":16642436,"phenotype_category":"Efficacy","significance":"no","notes":"Remitters achieved a QIDS-C score of <= 5 at the last treatment visit; probable remitters achieved a score of 6 or 7. Non- remitters had a QIDS-C16 score of >= 10 at the last visit. Those with a final QIDS-C16 score in the borderline range of 8 and 9 were excluded from analysis. Responders achieved at least a 50% reduction in base- line QIDS-C16 at the last treatment visit; probable respond- ers achieved a 45%\u201350% reduction. Nonresponders did not achieve even a 40% reduction in baseline QIDS-C score at the last treatment visit. Those with a reduction in QIDS-C16 in the borderline range of 40%\u201345% were excluded from analysis.","sentence":"Allele T is not associated with response to citalopram in people with Depressive Disorder, Major as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5316454","article_title":"Does i-T744C P2Y12 Polymorphism Modulate Clopidogrel Response among Moroccan Acute Coronary Syndromes Patients?","article_path":"articles/PMC5316454.md","variant_annotation_id":1448604375,"variant_haplotypes":"rs2046934","gene":"P2RY12","drugs":"clopidogrel","pmid":28261502,"phenotype_category":"Efficacy","significance":"no","notes":"The G allele frequency was higher among resistant than nonresistant patients (30% versus 20.8%, resp.).","sentence":"Allele G is associated with resistance to clopidogrel in people with Acute coronary syndrome as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Acute coronary syndrome","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5404990","article_title":"A cis-eQTL in OPRM1 is Associated with Subjective Response to Alcohol and Alcohol Use","article_path":"articles/PMC5404990.md","variant_annotation_id":1450824453,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"ethanol","pmid":28273335,"phenotype_category":"Dosage","significance":"no","notes":"No significant association between this variant and drinking levels.","sentence":"Genotypes AG + GG are not associated with dose of ethanol as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5411458","article_title":"CYP2D6 Phenotyping Using Urine, Plasma, and Saliva Metabolic Ratios to Assess the Impact of CYP2D6\u221710 on Interindividual Variation in a Chinese Population","article_path":"articles/PMC5411458.md","variant_annotation_id":1448617690,"variant_haplotypes":"CYP2D6*1, CYP2D6*10","gene":"CYP2D6","drugs":"dextromethorphan","pmid":28512430,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. *1/*10 n= 93; *10/*10 n=85. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001).","sentence":"CYP2D6 *10/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*10.","alleles":"*10/*10","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*10","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896129,"variant_haplotypes":"rs35806662","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC7115450","article_title":"Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial","article_path":"articles/PMC7115450.md","variant_annotation_id":1451148571,"variant_haplotypes":"rs6313","gene":"HTR2A","drugs":"escitalopram","pmid":31721892,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele A is not associated with response to escitalopram in people with Depression as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Depression","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4154892","article_title":"The involvement of Kras gene 3\u2032-UTR polymorphisms in risk of cancer and influence on patient response to anti-EGFR therapy in metastatic colorectal cancer: a meta-analysis","article_path":"articles/PMC4154892.md","variant_annotation_id":1446909124,"variant_haplotypes":"rs61764370","gene":"KRAS","drugs":"cetuximab, panitumumab","pmid":25210463,"phenotype_category":"Efficacy","significance":"no","notes":"In the results section the uncorrected p value listed looks good but when looking at Table 3 can see the corrected p value is not significant and authors state result is not significant.","sentence":"Genotypes AC + CC is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC3396003","article_title":"The Relationship Between Single Nucleotide Polymorphisms in 5-HT2A Signal Transduction-Related Genes and the Response Efficacy to Selective Serotonin Reuptake Inhibitor Treatments in Chinese Patients with Major Depressive Disorder","article_path":"articles/PMC3396003.md","variant_annotation_id":1452040040,"variant_haplotypes":"rs2230739","gene":"ADCY9","drugs":"antidepressants","pmid":22480177,"phenotype_category":"Efficacy","significance":"yes","notes":"long term response measured using HAMD","sentence":"Genotype CC is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4484731","article_title":"TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives","article_path":"articles/PMC4484731.md","variant_annotation_id":1444703605,"variant_haplotypes":"rs9285669","gene":null,"drugs":"hydrochlorothiazide","pmid":25695618,"phenotype_category":"Efficacy","significance":"no","notes":"The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.","sentence":"Allele A is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Essential hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144250,"variant_haplotypes":"rs62200793","gene":"ZNF804A","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5508045","article_title":"The impact of non-genetic and genetic factors on a stable warfarin dose in Thai patients","article_path":"articles/PMC5508045.md","variant_annotation_id":1448624168,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":28550460,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Genotypes AC + CC are associated with decreased dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism and Venous Thrombosis as compared to genotype AA.","alleles":"AC + CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC6219441","article_title":"Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients","article_path":"articles/PMC6219441.md","variant_annotation_id":1449752066,"variant_haplotypes":"rs11030918","gene":"RRM1","drugs":"ara-CTP","pmid":30088438,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Genotypes CT + TT is associated with decreased concentrations of ara-CTP in children with Leukemia, Myeloid, Acute as compared to genotype CC.","alleles":"CT + TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Leukemia, Myeloid, Acute","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC10827494","article_title":"An increase in urinary primaquine and a reduction in urinary primaquine-5,6-orthoquinone in the Thai population with CYP2D6 reduced enzyme function","article_path":"articles/PMC10827494.md","variant_annotation_id":1452370680,"variant_haplotypes":"CYP2D6 intermediate metabolizer","gene":"CYP2D6","drugs":"primaquine","pmid":38293439,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"For urine data, CYP2D6 IM showed a significant increase in normalized total CAE of primaquine compared to CYP2D6 NM (2444 (1697\u20133594) vs. 1757 (1092\u20132185) \u03bcg/mg/kg, respectively, p = 0.039, Table 3, Fig. 2, Fig. 3A), but not for CLr. The normalized total CAE of POQ was significantly lower in CYP2D6 IM than in CYP2D6 NM (115 (46\u2013297) vs. 318 (92\u2013498) \u03bcg/mg/kg, respectively, p = 0.047, Table 3, Fig. 2, Fig. 3B). \"","sentence":"CYP2D6 intermediate metabolizer is associated with decreased metabolism of primaquine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC10145266","article_title":"Pharmacokinetic Evaluation of Tacrolimus in Chinese Adult Patients during the Early Stages Post-Lung Transplantation","article_path":"articles/PMC10145266.md","variant_annotation_id":1452087040,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"tacrolimus","pmid":37109042,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Cohort was predominantly male (n=12). There was one *1/*1, 8 *1/*3 and 5 *3/*3. CYP3A5*3 (rs776746) and CYP3A4*1G (rs2242480) were genotyped. Patients received voriconazole.","sentence":"CYP3A5 *1/*1 + *1/*3 is associated with increased clearance of tacrolimus in people with lung transplantation as compared to CYP3A5 *3/*3.","alleles":"*1/*1 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Lung transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479724,"variant_haplotypes":"rs2069522","gene":"CYP1A2","drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC6493124","article_title":"Influence of Genetic Polymorphisms Involved in the Hypothalamic\u2013Pituitary\u2013Adrenal Axis and their Interactions with Environmental Factors on Antidepressant Response","article_path":"articles/PMC6493124.md","variant_annotation_id":1296599021,"variant_haplotypes":"rs28364032","gene":"CRHR1","drugs":"antidepressants","pmid":24422887,"phenotype_category":"Efficacy","significance":"yes","notes":"Those who were classified as \"remitters\" had a higher frequency of the AA+AG genotype as compared to \"non-remitters\". Remission was defined as total HAMD-17 score of <= 7 after 8 weeks of treatment. Corrected p-values using permutation testing. Note that significant results were also seen when considering only SSRIs (allelic association p=0.024) or SNRIs (allelic association p=0.010), but these results did not withstand permutation testing.","sentence":"Genotypes AA + AG is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032521,"variant_haplotypes":"rs7118900","gene":"ANKK1","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was statistically significant after permutation analysis based on 40,000 replicates, but not statistically significant after adjusting for testing for multiple SNPs (Bonferroni correction). Note; this association may be linked to the association with rs2283265 in the DRD2 gene.","sentence":"Genotypes AA + AG are associated with decreased dose of methadone in people with Heroin Dependence as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10880038","article_title":"The effect of genetic variants in the transcription factor TSPYL family on the CYP3A4 mediated cyclosporine metabolism in kidney transplant patients","article_path":"articles/PMC10880038.md","variant_annotation_id":1452391500,"variant_haplotypes":"rs3828743","gene":"TSPYL1","drugs":"cyclosporine","pmid":38380703,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This was significant in whole group but not in women only group. \"Rs3828743 homozygous carriers showed a decreased cyclosporine CL/F compared to the combined heterozygous carriers and wildtypes (28.72 vs. 35.03, p\u2009=\u20090.018; Figure 2 and Table 3). Furthermore, after adjusting for CYP3A4*22 genotype, steroid usage, and body weight, the effect size of rs3828743 on cyclosporine clearance increased compared to the univariate analysis. In the multivariate model, cyclosporine clearance was 18% lower when comparing homozygous carriers to heterozygous and wildtype patients.\" \"Interestingly, the effect of rs3828743 was only observed in men. In men, homozygous variant carriers had an ~21% decreased clearance compared to heterozygous carriers and wildtypes (28.57 vs. 35.97, p\u2009=\u20090.0052; Figure S2 and Table 4). By contrast, no effect of rs3828743 genotypes was observed in women with the exception of a significantly increased clearance (p\u2009=\u20090.026) in the heterozygous carriers compared to the wildtype women (Figure S3).\"","sentence":"Genotypes AG + GG is associated with increased clearance of cyclosporine in men with Kidney Transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Other:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5496343","article_title":"Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women","article_path":"articles/PMC5496343.md","variant_annotation_id":1449003493,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"lumefantrine","pmid":28673292,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Median concentrations of lumefantrine 7 days after beginning treatment with artemether-lumefantrine was significantly higher in carriers of the C allele as compared to non-carriers.","sentence":"Allele C is associated with increased concentrations of lumefantrine in women with Malaria and Pregnancy as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Disease:Malaria, Other:Pregnancy","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC10214567","article_title":"Ivacaftor: Five\u2010year outcomes in the West of Scotland cystic fibrosis population","article_path":"articles/PMC10214567.md","variant_annotation_id":1452051340,"variant_haplotypes":"rs75527207","gene":"CFTR","drugs":"ivacaftor","pmid":36938952,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by FEV improvement after 1 and 2 years of treatment compared to baseline FEV. Patients had \"at least one G551D mutation\" (which is a class III) and most (75-86%) had a second mutation of class II/severe.","sentence":"Allele A is associated with increased clinical benefit to ivacaftor in children with Cystic Fibrosis.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clinical benefit to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Cystic Fibrosis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC8800862","article_title":"The Cyp2b6 Gene Polymorphism and Phenotypic Correlation of Efavirenz-Based Combination Therapy Among the Niger Delta Ethnic Population: Implications in Modern Pharmacogenomics","article_path":"articles/PMC8800862.md","variant_annotation_id":1451686760,"variant_haplotypes":"CYP2B6*6","gene":"CYP2B6","drugs":"efavirenz","pmid":35115810,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"p value given for concordance of genotype with observed phenotype (UM, EM, IM, PM) where PM = 4.0\u20136.0ml/L plasma efavirenz (600 mg of efavirenz for at least 3 weeks) and concordant with *6/*6 and IM = 1.0\u20133.9mg/L plasma efavirenz and concordant with *1/*6.","sentence":"CYP2B6 *6 is associated with increased concentrations of efavirenz in people with HIV Infections.","alleles":"*6","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3100585","article_title":"Induction of CYP3A4 by Vinblastine: Role of the Nuclear Receptor NR1I2","article_path":"articles/PMC3100585.md","variant_annotation_id":827811136,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"midazolam","pmid":20959500,"phenotype_category":"Other, Metabolism/PK","significance":"no","notes":"It's not clear exactly what genotype comparison was done or what the genotypes were, but there was approximately one CT subject and 5 CC subjects, and frequency entered below was based upon that. Subjects were treated with vinblastine/valspodar. [stat_test: nonparametric 2-sided Wilcoxon signed-rank].","sentence":"Allele T is not associated with increased clearance of midazolam in people with Carcinoma, Renal Cell as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4706412","article_title":"A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics","article_path":"articles/PMC4706412.md","variant_annotation_id":1447682688,"variant_haplotypes":"rs9923231","gene":"VKORC1","drugs":"warfarin","pmid":26745506,"phenotype_category":"Dosage","significance":"yes","notes":"The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: the derivation cohort was 99% male.","sentence":"Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4669157","article_title":"HLA-G 3\u2019UTR Polymorphisms Impact the Prognosis of Stage II-III CRC Patients in Fluoropyrimidine-Based Treatment","article_path":"articles/PMC4669157.md","variant_annotation_id":1447678770,"variant_haplotypes":"rs371194629","gene":"HLA-G","drugs":"capecitabine, fluorouracil","pmid":26633805,"phenotype_category":"Efficacy","significance":"yes","notes":"The authors examined disease free survival (DFS) as well as overall survival (OS). The ins/del + ins/ins genotypes were associated with improved DFS, but not OS.","sentence":"Genotypes ATTTGTTCATGCCT/ATTTGTTCATGCCT + ATTTGTTCATGCCT/del is associated with increased response to capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype del/del.","alleles":"ATTTGTTCATGCCT/ATTTGTTCATGCCT + ATTTGTTCATGCCT/del","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"del/del","comparison_metabolizer_types":null} -{"pmcid":"PMC4697903","article_title":"NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia","article_path":"articles/PMC4697903.md","variant_annotation_id":1447682410,"variant_haplotypes":"rs1127354","gene":"ITPA","drugs":"mercaptopurine","pmid":26405151,"phenotype_category":"Dosage","significance":"no","notes":"No significant difference in median cumulative dose was seen between the genotypes at 2 months (p=0.55), 4 months (p=0.81) or 6 months (p=0.78) of the mercaptopurine maintenance phase.","sentence":"Genotype CC is not associated with dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AA + AC.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144213,"variant_haplotypes":"rs59724122","gene":"EPHX2","drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC7963143","article_title":"Lack of Association between Opioid-Receptor Genotypes and Smoking Cessation Outcomes in a Randomized, Controlled Naltrexone Trial","article_path":"articles/PMC7963143.md","variant_annotation_id":1451113806,"variant_haplotypes":"rs2075572","gene":"OPRM1","drugs":"naltrexone","pmid":31206155,"phenotype_category":"Efficacy","significance":"no","notes":"No significant association between this variant and smoking quit rate when naltrexone was used as augmentation to nicotine patch therapy.","sentence":"Allele C is not associated with response to naltrexone in people with Tobacco Use Disorder as compared to allele G.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11241034","article_title":"Exudative Age-Related Macular Degeneration: Association between Treatment Efficacy and Single-Nucleotide Variants in RAD51B, TRIB1, COL8A1, COL10A1, IL-9, IL-10, and VEGFA Genes","article_path":"articles/PMC11241034.md","variant_annotation_id":1452530280,"variant_haplotypes":"rs4351379","gene":"TRIB1","drugs":"VEGF/VEGFR (Vascular Endothelial Growth Factor) inhibitors","pmid":38999967,"phenotype_category":"Efficacy","significance":"no","notes":"\"Also, we revealed that CMT decreased more for rs4351379 heterozygous and homozygous minor allele carriers than for wild-type genotype carriers after 6 months of treatment (p = 0.030), but these results did not survive the strict Bonferroni correction for multiple comparison.\"","sentence":"Genotypes CC + CG is associated with decreased response to VEGF/VEGFR (Vascular Endothelial Growth Factor) inhibitors in people with Macular Degeneration as compared to genotype GG.","alleles":"CC + CG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Macular Degeneration","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4982581","article_title":"Pharmacokinetic profiles of significant adverse events with crizotinib in Japanese patients with ABCB1 polymorphism","article_path":"articles/PMC4982581.md","variant_annotation_id":1450989200,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"crizotinib","pmid":27270784,"phenotype_category":"Metabolism/PK","significance":"no","notes":"There was only one individual who was AA at all three locations that define *2 (rs1128503, rs2032582 and rs1045642). Individuals who were AA at one location (n=3) also had slightly increased exposure compared to \"wild type or heterozygotes\" (n=4). Increased exposure was significantly associated with toxicity. (alleles complemented to plus chromosomal strand)","sentence":"Genotype AA is associated with increased exposure to crizotinib in people with.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC2879959","article_title":"Impact of the CYP2C19*17 Allele on the Pharmacokinetics of Omeprazole and Pantoprazole in Children: Evidence for a Differential Effect","article_path":"articles/PMC2879959.md","variant_annotation_id":1447947227,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*17","gene":"CYP2C19","drugs":"pantoprazole","pmid":20223877,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"There was not a statistically significant difference for PK parameters between *1/*1 and *1/*17, but there was a statistically significant difference between groups with 2 functional alleles vs. 1 functional allele (*1/*17+*2/*17) for AUC.","sentence":"CYP2C19 *1/*1 + *1/*17 is associated with increased metabolism of pantoprazole in children as compared to CYP2C19 *1/*2 + *2/*17.","alleles":"*1/*1 + *1/*17","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*2 + *2/*17","comparison_metabolizer_types":null} -{"pmcid":"PMC3867202","article_title":"Association of genetic variation in pharmacodynamic factors with methadone dose required for effective treatment of opioid addiction","article_path":"articles/PMC3867202.md","variant_annotation_id":982032665,"variant_haplotypes":"rs2239622","gene":"NGF","drugs":"methadone","pmid":23651024,"phenotype_category":"Dosage","significance":"no","notes":"This association was not statistically significant. Alleles were reported as T/C, here they are complemented with A representing T and G representing C for the positive chromosomal strand.","sentence":"Genotype AA is not associated with decreased dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC4872428","article_title":"Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes","article_path":"articles/PMC4872428.md","variant_annotation_id":1447949461,"variant_haplotypes":"rs1875705","gene":"GRID2","drugs":"risperidone","pmid":26905411,"phenotype_category":"Efficacy","significance":"yes","notes":"Psychotic-naive or minimal antipsychotic exposure. Improvement measured with Brief Psychiatric Rating Scale.","sentence":"Genotype GG is associated with increased response to risperidone in people with as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC5898372","article_title":"Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus","article_path":"articles/PMC5898372.md","variant_annotation_id":1449310672,"variant_haplotypes":"rs12208357","gene":"SLC22A1","drugs":"sulfonamides, urea derivatives","pmid":29681852,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele T is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Diabetes Mellitus","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC2194758","article_title":"Ethnic Stratification of the Association of RGS4 Variants with Antipsychotic Treatment Response in Schizophrenia","article_path":"articles/PMC2194758.md","variant_annotation_id":608431255,"variant_haplotypes":"rs2842030","gene":"RGS4","drugs":"risperidone","pmid":17588543,"phenotype_category":"Efficacy","significance":"not stated","notes":"compared to perphenazine, quetiapine, and ziprasidone treatment","sentence":"Genotype GG is associated with increased response to risperidone in people with Schizophrenia as compared to genotypes GT + TT.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC11252221","article_title":"Pharmacokinetics and safety of mavacamten in healthy Chinese participants with different CYP2C19 phenotypes","article_path":"articles/PMC11252221.md","variant_annotation_id":1452535740,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17","gene":"CYP2C19","drugs":"mavacamten","pmid":39014868,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"\"The total exposures for CYP2C19 IM and CYP2C19 PM were increased approximately 1.8\u2010 to 4\u2010fold when compared to CYP2C19 UM/RM/NM.\" There were no UM (*17/*17) or *3/*3.","sentence":"CYP2C19 *1/*2 + *1/*3 + *2/*3 + *2/*2 (assigned as intermediate metabolizer and poor metabolizer phenotype) is associated with increased exposure to mavacamten in healthy individuals as compared to CYP2C19 *1/*1 + *1/*17 (assigned as normal metabolizer and rapid metabolizer phenotype) .","alleles":"*1/*2 + *1/*3 + *2/*3 + *2/*2","specialty_population":null,"metabolizer_types":"intermediate metabolizer and poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1 + *1/*17","comparison_metabolizer_types":"normal metabolizer and rapid metabolizer"} -{"pmcid":"PMC1365072","article_title":"Biotransformation and pharmacokinetics of ethylmorphine after a single oral dose","article_path":"articles/PMC1365072.md","variant_annotation_id":1451152645,"variant_haplotypes":"CYP2D6 poor metabolizer phenotype","gene":"CYP2D6","drugs":"ethylmorphine","pmid":7654478,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Study of ethylmorphine metabolism in ten healthy volunteers. Authors genotyped for the CYP2D6*3, *4, *5 and *9 alleles, referred to in the paper as CYP2D6A, CYP2D6B, CYP2D6D and CYP2D6C respectively. One subject had the *1/*3 genotype, two were *1/*4 and two had the *1/*5 genotype. All other subjects were *1/*1. However, the authors describe their results in terms of the metabolizer phenotypes obtained using ethylmorphine as a probe drug, which identified two poor metabolizers (one *1/*3 and one *1/*5) and eight normal metabolizers. The discussion section of the paper mentions that ethylmorphine is not a suitable probe drug for determining CYP2D6 activity, due to the existence of other ethylmorphine metabolic pathways via UGT1A and CYP3A.","sentence":"CYP2D6 poor metabolizer is associated with decreased metabolism of ethylmorphine in healthy individuals as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC3561425","article_title":"Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy","article_path":"articles/PMC3561425.md","variant_annotation_id":1183703611,"variant_haplotypes":"rs2740574","gene":"CYP3A4","drugs":"imatinib","pmid":22875622,"phenotype_category":"Efficacy","significance":"no","notes":"This genotype was not significantly with associated with likelihood of achieving major molecular response (MMR) within 12 months. MMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; MMR was a ratio <= 0.1%. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CT + TT is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype CC.","alleles":"CT + TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic myelogenous leukemia, BCR-ABL1 positive","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC4462610","article_title":"The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response","article_path":"articles/PMC4462610.md","variant_annotation_id":1446896207,"variant_haplotypes":"rs10954808","gene":null,"drugs":"Selective serotonin reuptake inhibitors","pmid":25897834,"phenotype_category":"Efficacy","significance":"no","notes":"The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: \u2018% change in HRSD-17 score\u2019 (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and \u2018response\u2019 (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).","sentence":"Allele G is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5817388","article_title":"Association of CTH variant with sinusoidal obstruction syndrome in children receiving intravenous busulfan and cyclophosphamide before hematopoietic stem cell transplantation","article_path":"articles/PMC5817388.md","variant_annotation_id":1448525496,"variant_haplotypes":"rs1021737","gene":"CTH","drugs":"busulfan","pmid":27779248,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Genotype TT is not associated with clearance of busulfan in children with Hematopoietic stem cell transplantation as compared to genotypes GG + GT.","alleles":"TT","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Hematopoietic stem cell transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3912955","article_title":"Polymorphism of the complement receptor 1 gene correlates with the hematologic response to eculizumab in patients with paroxysmal nocturnal hemoglobinuria","article_path":"articles/PMC3912955.md","variant_annotation_id":1184512015,"variant_haplotypes":"rs3811381","gene":"CR1","drugs":"eculizumab","pmid":24038027,"phenotype_category":"Efficacy","significance":"no","notes":"Response was defined as no red blood cell transfusion at any time after the first 6 months on eculizumab treatment (patients had a median follow-up of 52 months, range of 11-98 months). In the paper, CC = Pro/Pro.","sentence":"Genotypes CG + GG is not associated with response to eculizumab in people with paroxysmal nocturnal hemoglobinuria as compared to genotype CC.","alleles":"CG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:paroxysmal nocturnal hemoglobinuria","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC11310823","article_title":"Pharmacogenetic Variants and Plasma Concentrations of Antiseizure Drugs: A Systematic Review and Meta-Analysis","article_path":"articles/PMC11310823.md","variant_annotation_id":1452563870,"variant_haplotypes":"CYP3A5 poor metabolizer","gene":"CYP3A5","drugs":"carbamazepine","pmid":39115847,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"CYP3A5 poor metabolizers exhibited a 12% (95% CI, 3%-22%) plasma concentration increase compared with carriers of functional CYP3A5 haplotypes (Table 3).\" \"CYP3A5*3: rs776746\"","sentence":"CYP3A5 poor metabolizer is associated with increased concentrations of carbamazepine as compared to CYP3A5 normal metabolizer and intermediate metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC3394147","article_title":"A case report of voriconazole therapy failure in a homozygous ultrarapid CYP2C19*17/*17 patient comedicated with carbamazepine","article_path":"articles/PMC3394147.md","variant_annotation_id":1444828143,"variant_haplotypes":"CYP2C19*17","gene":"CYP2C19","drugs":"voriconazole","pmid":22122271,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Case report: Patient had undetectable plasma levels of the drug, resulting in decreased exposure and discontinuation of drug (switched to alternative drug). Patient also taking carbamazepine.","sentence":"CYP2C19 *17/*17 (assigned as ultrarapid metabolizer phenotype) is associated with decreased concentrations of voriconazole.","alleles":"*17/*17","specialty_population":null,"metabolizer_types":"ultrarapid metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4452656","article_title":"Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy","article_path":"articles/PMC4452656.md","variant_annotation_id":1446767286,"variant_haplotypes":"rs3008604","gene":null,"drugs":"vancomycin","pmid":26030142,"phenotype_category":"Metabolism/PK","significance":"no","notes":"The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.","sentence":"Allele T is not associated with trough concentration of vancomycin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5684285","article_title":"Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite","article_path":"articles/PMC5684285.md","variant_annotation_id":1449002165,"variant_haplotypes":"rs4244285","gene":"CYP2C19","drugs":"clopidogrel thiol metabolite H4","pmid":28914344,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Full pharmacokinetic profile was obtained from 17 subjects at 0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.","sentence":"Allele A is associated with exposure to clopidogrel thiol metabolite H4 as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC6752321","article_title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","article_path":"articles/PMC6752321.md","variant_annotation_id":1450934386,"variant_haplotypes":"rs398123226","gene":"GLA","drugs":"migalastat","pmid":30723321,"phenotype_category":"Efficacy","significance":"not stated","notes":"Patients carrying the C allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Asp322Glu in the paper.","sentence":"Allele C is associated with increased response to migalastat in people with Fabry Disease.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Fabry Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC3485381","article_title":"Variants Identified in a GWAS Meta-Analysis for Blood Lipids Are Associated with the Lipid Response to Fenofibrate","article_path":"articles/PMC3485381.md","variant_annotation_id":982015058,"variant_haplotypes":"rs964184","gene":"APOA1","drugs":"fenofibrate","pmid":23119086,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the G allele had a greater increase in high-density lipoprotein (HDL) cholesterol and triglyceride (TG) level between baseline and either 3 weeks or 8 weeks of fenofibrate treatment, as compared to those with the C allele. Two cohorts were used: the discovery cohort came from the National Heart, Lung and Blood Institute GOLDN study population, and the replication cohort came from the Pharmacogenetics of Hypertriglyceridemia in Hispanics (HyperTG) study. Participants from the GOLDN study received fenofibrate treatment for 3 weeks, participants from HyperTG received it for 8 weeks. Differences in the discovery study population were significant after correction for multiple testing.","sentence":"Allele G is associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC4719145","article_title":"SLCO1B1 genetic variants, long-term low-density lipoprotein cholesterol levels and clinical events in patients following cardiac catheterization","article_path":"articles/PMC4719145.md","variant_annotation_id":1447943994,"variant_haplotypes":"rs4149056","gene":"SLCO1B1","drugs":"hmg coa reductase inhibitors","pmid":25916517,"phenotype_category":"Efficacy","significance":"yes","notes":"as measured by plasma LDL-c.","sentence":"Allele C is associated with decreased response to hmg coa reductase inhibitors in people with Cardiovascular Diseases as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3419350","article_title":"CYP2C19 polymorphism affects single-dose pharmacokinetics of oral pantoprazole in healthy volunteers","article_path":"articles/PMC3419350.md","variant_annotation_id":1447947325,"variant_haplotypes":"CYP2C19*1, CYP2C19*2","gene":"CYP2C19","drugs":"pantoprazole","pmid":22418828,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"AG = *1/*2 and GG = *1/*1. The study was done using pantoprazole. *2/*17 (n = 6) had concentration-time curves similar to *1/*1 subjects (typed only for *2 and *17).","sentence":"CYP2C19 *1/*2 is associated with decreased clearance of pantoprazole in healthy individuals as compared to CYP2C19 *1/*1.","alleles":"*1/*2","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC2647710","article_title":"Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states1","article_path":"articles/PMC2647710.md","variant_annotation_id":982044712,"variant_haplotypes":"rs662799","gene":"APOA5","drugs":"fenofibrate","pmid":19056598,"phenotype_category":"Efficacy","significance":"not stated","notes":"When combined with rs780094 CT + TT genotypes. This combined genotype group is associated with a greater reduction in triacylglycerol concentrations between baseline and 3 weeks of treatment, as compared to any other genotype combination. Adjusted for baseline triacylglycerol. Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes AG + GG are associated with increased response to fenofibrate in people with Hypertriglyceridemia.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC6328871","article_title":"Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer","article_path":"articles/PMC6328871.md","variant_annotation_id":1450932012,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"sufentanil","pmid":30455395,"phenotype_category":"Dosage","significance":"yes","notes":"Patients with the AA genotype had significantly increased sufentanil consumption compared to patients with the AC or CC genotypes, while those with the AC genotype had significantly increased compared to patients with the CC genotype. Please note that alleles have been complemented to the positive strand.","sentence":"Genotypes AA + AC are associated with increased dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"\"Other:Lung Neoplasms\", \"Other:Pain, Postoperative\"","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} -{"pmcid":"PMC6631257","article_title":"A Single Site Population Study to Investigate CYP2D6 Phenotype of Patients with Persistent Non-Malignant Pain","article_path":"articles/PMC6631257.md","variant_annotation_id":1451351665,"variant_haplotypes":"CYP2D6 normal metabolizers","gene":"CYP2D6","drugs":"codeine","pmid":31141989,"phenotype_category":"Efficacy","significance":"not stated","notes":"All CYP2D6 PMs, IMs and UMs in the study cohort were categorized as non-responders to codeine. Patients were genotyped for the *1, *2, *3, *4, *5, *6, *9, *10, *41 alleles as well as for allele duplication. Note that patients with a CYP2D6 activity score of 1 were assigned as normal metabolizers.","sentence":"CYP2D6 normal metabolizer is associated with increased response to codeine in people with Pain as compared to CYP2D6 ultrarapid metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"normal metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Pain","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"ultrarapid metabolizer"} -{"pmcid":"PMC3983993","article_title":"Variation in Mu-Opioid Receptor Gene (OPRM1) as a Moderator of Naltrexone Treatment to Reduce Heavy Drinking in a High Functioning Cohort","article_path":"articles/PMC3983993.md","variant_annotation_id":1449188815,"variant_haplotypes":"rs1799971","gene":"OPRM1","drugs":"naltrexone","pmid":24729984,"phenotype_category":"Efficacy","significance":"yes","notes":"A significant association was seen between the G allele and the likelihood of achieving a level of non-hazardous drinking (defined as drinking less than 14 standard drinks and having nor heavy drinking days in one week).; However, no significant main effect was observed between rs1799971, naltrexone and either the weekly sum of standard drinks or the number of heavy drinking days.","sentence":"Allele G is associated with increased response to naltrexone in men with Alcoholism as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in men with","population_phenotypes_or_diseases":"Disease:Alcohol abuse","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC11481807","article_title":"Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder","article_path":"articles/PMC11481807.md","variant_annotation_id":1452647607,"variant_haplotypes":"rs962369","gene":"BDNF","drugs":"escitalopram","pmid":39407134,"phenotype_category":"Efficacy","significance":"no","notes":"\"No significant relationship between HTR2A rs9316233 and BDNF rs962369 variants with response to escitalopram treatment was observed.\" Table 3 lists C as minor allele and T as common allele.","sentence":"Allele C is not associated with decreased response to escitalopram in people with Major Depressive Disorder as compared to allele T (assigned as normal metabolizer phenotype) .","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC5743122","article_title":"Pharmacogenetic guidance: individualized medicine promotes enhanced pain outcomes","article_path":"articles/PMC5743122.md","variant_annotation_id":1449296299,"variant_haplotypes":"rs1801133","gene":"MTHFR","drugs":"folic acid","pmid":29317847,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Please note that alleles have been complemented to the positive stand.; Case study of a patient with the A allele at rs1801133 and the G allele at rs1801131 who subsequently responded to folate supplementation.","sentence":"Allele A is associated with decreased metabolism of folic acid.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC4323272","article_title":"Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib","article_path":"articles/PMC4323272.md","variant_annotation_id":1185002754,"variant_haplotypes":"rs34231037","gene":"KDR","drugs":"pazopanib","pmid":25411163,"phenotype_category":"Efficacy","significance":"yes","notes":"Patients with the G allele had greater decline over 4 weeks in [sVEGFR2] with; pazopanib exposure compared to non-carriers (mean decrease -3.5ng/mL vs -2.3 ng/mL, they also had lower baseline [sVEGFR2] measures. Serum VEGFR2 concentrations [sVEGFR2] is a pharmacodynamic biomarker for VEGFR2 inhibitors. No GG homozygotes were shown.","sentence":"Genotype AG is associated with increased response to pazopanib in people with Carcinoma, Renal Cell as compared to genotype AA.","alleles":"AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Renal Cell Carcinoma","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930679,"variant_haplotypes":"rs7178270","gene":"CHRNB4","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele G is not associated with exposure to nicotine in men as compared to allele C.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5711795","article_title":"Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies","article_path":"articles/PMC5711795.md","variant_annotation_id":1449155973,"variant_haplotypes":"rs2072661","gene":"CHRNB2","drugs":"bupropion, nicotine, varenicline","pmid":29196725,"phenotype_category":"Efficacy","significance":"no","notes":"Authors looked at the effect of variants on response to the smoking cessation therapies varenicline, bupropion and nicotine replacement therapy.; Please note that alleles have been complemented to the positive strand.","sentence":"Allele A is not associated with response to bupropion, nicotine and varenicline in people with Tobacco Use Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4437521","article_title":"Effect of N-acetylcysteine in COPD patients with different microsomal epoxide hydrolase genotypes","article_path":"articles/PMC4437521.md","variant_annotation_id":1447944067,"variant_haplotypes":"EPHX1 poor metabolizer","gene":"EPHX1","drugs":"acetylcysteine","pmid":25999707,"phenotype_category":"Efficacy","significance":"yes","notes":"Efficacy measured as improvement in FEV1, FEV1 % predicted, and SGRQ symptom score. Efficacy also measured in terms of reduction of exacerbation rate.","sentence":"EPHX1 poor metabolizer is associated with increased response to acetylcysteine in people with Pulmonary Disease, Chronic Obstructive as compared to genotype fast/normal (assigned as intermediate metabolizer and normal metabolizer phenotype) .","alleles":null,"specialty_population":null,"metabolizer_types":"poor metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic Obstructive Pulmonary Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"fast/normal","comparison_metabolizer_types":"normal metabolizer and intermediate metabolizer"} -{"pmcid":"PMC3657889","article_title":"Cytochrome P450 (CYP2C9*2,*3) & vitamin-K epoxide reductase complex (VKORC1 -1639G20 mg/wk (P=0.014).","sentence":"Allele T is associated with decreased dose of acenocoumarol as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC5520553","article_title":"Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma","article_path":"articles/PMC5520553.md","variant_annotation_id":1448820481,"variant_haplotypes":"rs9200","gene":"C6","drugs":"tacrolimus","pmid":28685716,"phenotype_category":"Metabolism/PK","significance":"no","notes":"When considering DONOR genotype - no significant difference in concentration/dose ratio was seen between those with the CC or CT genotype and to those with the TT genotype at weeks 1-4 of treatment. Patients with hepatocellular carcinoma. Please note that alleles have been complemented to the plus chromosomal strand.","sentence":"Genotypes CC + CT are not associated with dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype TT.","alleles":"CC + CT","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose-adjusted trough concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC5342670","article_title":"IL-3 and CTLA4 gene polymorphisms may influence the tacrolimus dose requirement in Chinese kidney transplant recipients","article_path":"articles/PMC5342670.md","variant_annotation_id":1448613188,"variant_haplotypes":"rs4553808","gene":"CTLA4","drugs":"tacrolimus","pmid":28112181,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This association was significant in CYP3A5 nonexpressors but the opposite association was seen in CYP3A5 expressers. The time of measurement was 30 days after transplantation. Day 7 and day 90 after transplantation did not show a significant association.","sentence":"Genotypes AG + GG is associated with increased exposure to tacrolimus in people with Kidney Transplantation as compared to genotype AA.","alleles":"AG + GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA","comparison_metabolizer_types":null} -{"pmcid":"PMC4456129","article_title":"Methadone dose in heroin-dependent patients: role of clinical factors, comedications, genetic polymorphisms and enzyme activity","article_path":"articles/PMC4456129.md","variant_annotation_id":1444695457,"variant_haplotypes":"rs2279343","gene":"CYP2B6","drugs":"methadone","pmid":25556837,"phenotype_category":"Dosage","significance":"no","notes":"Methadone maintenance dose was not associated with genotype of the SNP but it was correlated to the highest dose ever used. Multiple doses versus single dose, body weight, history of cocaine dependence and ethnicity (Asian>Caucasian>African) were independently associated with methadone dose in multiple regression analysis.","sentence":"Allele A is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438850,"variant_haplotypes":"rs866325353","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5.0E-9.","sentence":"Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3100476","article_title":"Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance","article_path":"articles/PMC3100476.md","variant_annotation_id":981479773,"variant_haplotypes":"rs2859229","gene":null,"drugs":"olanzapine","pmid":21519338,"phenotype_category":"Metabolism/PK","significance":"no","notes":null,"sentence":"Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5943457","article_title":"Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis","article_path":"articles/PMC5943457.md","variant_annotation_id":1449557981,"variant_haplotypes":"rs7624766","gene":null,"drugs":"methotrexate","pmid":29743634,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele G is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438740,"variant_haplotypes":"rs7970054","gene":"LRIG3","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 6.0E-7.","sentence":"Allele C is not associated with clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC4444267","article_title":"Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking","article_path":"articles/PMC4444267.md","variant_annotation_id":1444930241,"variant_haplotypes":"rs16969968","gene":"CHRNA5","drugs":"nicotine, varenicline","pmid":26010901,"phenotype_category":"Efficacy","significance":"no","notes":"Response here refers to smoking cessation outcomes at 7 days and nicotine refers to nicotine patches. Smoking cessation outcomes at 6 months and 12 months were also not significantly associated with genotype.","sentence":"Genotype GG is not associated with response to nicotine or varenicline in people with Tobacco Use Disorder as compared to genotypes AA + AG.","alleles":"GG","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AG","comparison_metabolizer_types":null} -{"pmcid":"PMC3567337","article_title":"Genome-wide study of methotrexate clearance replicates SLCO1B1","article_path":"articles/PMC3567337.md","variant_annotation_id":981483700,"variant_haplotypes":"rs11045821","gene":"SLCO1B1","drugs":"methotrexate","pmid":23233662,"phenotype_category":"Efficacy, Toxicity, Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5346034","article_title":"Effect of UGT2B10, UGT2B17, FMO3, and OCT2 Genetic Variation on Nicotine and Cotinine Pharmacokinetics and Smoking in African Americans","article_path":"articles/PMC5346034.md","variant_annotation_id":1448602071,"variant_haplotypes":"rs2942857","gene":"UGT2B10","drugs":"cotinine","pmid":28178031,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This annotation was on rs116294140, but dbSNP has merged these two rs IDs.","sentence":"Genotype CC is associated with decreased clearance of cotinine in people with Tobacco Use Disorder as compared to genotypes AA + AC.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Tobacco Use Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AA + AC","comparison_metabolizer_types":null} -{"pmcid":"PMC5514947","article_title":"Polymorphisms in methotrexate transporters and their relationship to plasma methotrexate levels, toxicity of high-dose methotrexate, and outcome of pediatric acute lymphoblastic leukemia","article_path":"articles/PMC5514947.md","variant_annotation_id":1449002964,"variant_haplotypes":"rs2306283","gene":"SLCO1B1","drugs":"methotrexate","pmid":28525903,"phenotype_category":"Efficacy","significance":"no","notes":"Please note: alleles have been complemented to the + chromosomal strand.","sentence":"Allele G is not associated with response to methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele A.","alleles":"G","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452438732,"variant_haplotypes":"rs112914324","gene":null,"drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Significance threshold was set at 5.0E-9.","sentence":"Allele T is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4707035","article_title":"Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations","article_path":"articles/PMC4707035.md","variant_annotation_id":1447681685,"variant_haplotypes":"rs17716295","gene":"NRG1","drugs":"antipsychotics","pmid":26788534,"phenotype_category":"Efficacy","significance":"yes","notes":"In high severity schizophrenia patient subgroup","sentence":"Allele A is associated with decreased response to antipsychotics in people with Schizophrenia as compared to allele C.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC3461952","article_title":"Functional genetic variation in the Rev-Erb\u03b1 pathway and lithium response in the treatment of bipolar disorder","article_path":"articles/PMC3461952.md","variant_annotation_id":981954104,"variant_haplotypes":"rs2640909","gene":"PER3","drugs":"lithium","pmid":21781277,"phenotype_category":"Efficacy","significance":"no","notes":null,"sentence":"Allele C is not associated with increased response to lithium in people with Bipolar Disorder as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC8141066","article_title":"ERICH3: vesicular association and antidepressant treatment response","article_path":"articles/PMC8141066.md","variant_annotation_id":1452357940,"variant_haplotypes":"rs11580409","gene":"ERICH3","drugs":"antidepressants","pmid":33230203,"phenotype_category":"Efficacy","significance":"yes","notes":"Meta-analysis combined samples from four independent antidepressant studies, STAR*D, ISPC, PReDICT and PGRN-AMPS. Treatment \u201cresponse\u201d was defined as a reduction of at least 50% in depression score as determined by use of the 17-item Hamilton Depression Rating Scale or the 16-item Quick Inventory of Depressive Symptomatology.; rating scale.","sentence":"Allele C is associated with increased response to antidepressants as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4220464","article_title":"Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins","article_path":"articles/PMC4220464.md","variant_annotation_id":1184997409,"variant_haplotypes":"rs445925","gene":null,"drugs":"hmg coa reductase inhibitors","pmid":25350695,"phenotype_category":"Efficacy","significance":"yes","notes":"Carriers of the rs445925 A SNP respond to statins with an additional 4.3% increase per allele in LDL-C lowering effect compared with non-carriers.","sentence":"Allele A is associated with increased response to hmg coa reductase inhibitors as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2515139","article_title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","article_path":"articles/PMC2515139.md","variant_annotation_id":982032955,"variant_haplotypes":"rs1057910","gene":"CYP2C9","drugs":"warfarin","pmid":18535201,"phenotype_category":"Dosage","significance":"yes","notes":null,"sentence":"Allele C is associated with decreased dose of warfarin as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5468510","article_title":"A polymorphism in the OPRM1 3\u2032 untranslated region is associated with methadone efficacy in treating opioid dependence","article_path":"articles/PMC5468510.md","variant_annotation_id":1448526016,"variant_haplotypes":"rs10485058","gene":"OPRM1","drugs":"methadone","pmid":27958381,"phenotype_category":"Efficacy","significance":"yes","notes":"Methadone patients with the AA genotype were less likely to have opioid-positive urine drug screens as compared to those with the AG and GG genotypes over 24 weeks. This SNP was not associated with response to buprenorphine treatment. A separate cohort of patients (CATS) was also analyzed; this cohort collected self-reported data on ever having had a relapse after a period of abstinence in opioid-dependent individuals. In this cohort, using an additive model, the A allele was found to be significantly associated with never having relapsed.","sentence":"Genotype AA is associated with increased response to methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC10154044","article_title":"Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV","article_path":"articles/PMC10154044.md","variant_annotation_id":1452435000,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"tenofovir","pmid":37098852,"phenotype_category":"Metabolism/PK","significance":"yes","notes":null,"sentence":"Allele C is associated with increased clearance of tenofovir in people with HIV Infections as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC2733171","article_title":"Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study","article_path":"articles/PMC2733171.md","variant_annotation_id":982038112,"variant_haplotypes":"rs613808","gene":"APOA1","drugs":"fenofibrate","pmid":19057464,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.","sentence":"Genotypes AA + AG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG.","alleles":"AA + AG","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertriglyceridemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC6021962","article_title":"Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients","article_path":"articles/PMC6021962.md","variant_annotation_id":1449163570,"variant_haplotypes":"rs4646437","gene":"CYP3A4","drugs":"tacrolimus","pmid":29318894,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients, this was one of the variants that passed validation in both populations. Direction of effect was not stated.","sentence":"Allele A is associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"trough concentration of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Kidney Transplantation, Disease:Transplantation","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC4168388","article_title":"Population pharmacokinetic approach to evaluate the effect of CYP2D6, CYP3A, ABCB1, POR and NR1I2 genotypes on donepezil clearance","article_path":"articles/PMC4168388.md","variant_annotation_id":1184511064,"variant_haplotypes":"CYP3A7*1A, CYP3A7*1C","gene":"CYP3A7","drugs":"donepezil","pmid":24433464,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Diplotypes *1/*1, *1/*1C, *1C/*1C, did not influence donepezil clearance in a covariate model.","sentence":"CYP3A7 *1C/*1C is not associated with clearance of donepezil in people with Alzheimer Disease as compared to CYP3A7 *1A/*1A.","alleles":"*1C/*1C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Alzheimer Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1A/*1A","comparison_metabolizer_types":null} -{"pmcid":"PMC9536193","article_title":"Germline Polymorphisms as Biomarkers of Tumor Response in Colorectal Cancer Patients Treated with Anti-EGFR Monoclonal Antibodies: A Systematic Review and Meta-Analysis","article_path":"articles/PMC9536193.md","variant_annotation_id":1449165351,"variant_haplotypes":"rs4444903","gene":"EGF","drugs":"cetuximab, panitumumab","pmid":27897268,"phenotype_category":"Efficacy","significance":"no","notes":"Meta-analysis with 6 studies. This association was not significant after multiple testing correction. The authors did not provide the exact number of patients but stated that \"the median number of patients per analysis was 110 (range 50 - 740)\". Most definitions of response were variations of the RECIST criteria.","sentence":"Allele G is not associated with response to cetuximab or panitumumab in people with Colorectal Neoplasms as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Colorectal Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5510236","article_title":"The Effects of Inherited NUDT15 Polymorphisms on Thiopurine Active Metabolites in Japanese Children with Acute Lymphoblastic Leukemia","article_path":"articles/PMC5510236.md","variant_annotation_id":1448624581,"variant_haplotypes":"NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5","gene":"NUDT15","drugs":"mercaptopurine","pmid":28445187,"phenotype_category":"Toxicity","significance":"yes","notes":"The mean mercaptopurine (MP) dosages were 48.0 \u00b1 21.2, 34.1 \u00b1 17.0, and 3.2 \u00b1 1.2 mg/m2 for the normal-activity (*1/*1 n=44), intermediate-activity (*1/*2 + *1/*3 + *1/*5 n=10), and low-activity (*2/*3 n=1) NUDT15 groups, respectively (P = 4.8\u00d710-4). TGN (thioguanine nucleotides, not further specified) levels was correlated negatively with the number of NUDT15 risk alleles (P=5.3\u00d710-6) and this association remained significant after adjusting for MP dosage (P = 1.7 \u00d7 10 - 6).","sentence":"NUDT15 *1/*2 + *1/*3 + *1/*5 are associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1.","alleles":"*1/*2 + *1/*3 + *1/*5","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Acute lymphoblastic leukemia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4836090","article_title":"Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway","article_path":"articles/PMC4836090.md","variant_annotation_id":1447983260,"variant_haplotypes":"rs766127","gene":"MTRF1L","drugs":"antidepressants","pmid":27091189,"phenotype_category":"Efficacy","significance":"yes","notes":"Identity of minor allele not specified, so minor allele of dbSNP used here (G). Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.","sentence":"Allele G is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Major Depressive Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC1885108","article_title":"Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes","article_path":"articles/PMC1885108.md","variant_annotation_id":982043191,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"pravastatin","pmid":16722833,"phenotype_category":"Metabolism/PK","significance":"no","notes":"No significant association was found between PK parameters and this SNP.","sentence":"Allele C is not associated with metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Hyperlipoproteinemia Type II","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5945500","article_title":"Correlation of MDR1 gene polymorphism with propofol combined with remifentanil anesthesia in pediatric tonsillectomy","article_path":"articles/PMC5945500.md","variant_annotation_id":1449311630,"variant_haplotypes":"rs2032582","gene":"ABCB1","drugs":"propofol, remifentanil","pmid":29755652,"phenotype_category":"Efficacy","significance":"no","notes":"Referred to as 2677 G>T/A Please note that alleles have been complemented to the positive strand.","sentence":"Allele C is not associated with response to propofol and remifentanil in children as compared to allele T.","alleles":"C","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in children","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5423974","article_title":"Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis","article_path":"articles/PMC5423974.md","variant_annotation_id":1448613514,"variant_haplotypes":"rs4148323","gene":"UGT1A1","drugs":"selumetinib","pmid":28283692,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.","sentence":"Allele G is not associated with dose of selumetinib in healthy individuals as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in healthy individuals","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC9468554","article_title":"Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population","article_path":"articles/PMC9468554.md","variant_annotation_id":1452014720,"variant_haplotypes":"CYP2B6*1, CYP2B6*4","gene":"CYP2B6","drugs":"sertraline","pmid":35668575,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Compared with the reference group (CYP2B6*1/*1, n = 454), patients carrying the CYP2B6*4 allele had a 17.4% (n = 37, p = 0.022) reduced serum concentration of sertraline.","sentence":"CYP2B6 *1/*4 + *4/*4 are associated with decreased concentrations of sertraline as compared to CYP2B6 *1/*1.","alleles":"*1/*4 + *4/*4","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4034115","article_title":"Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders","article_path":"articles/PMC4034115.md","variant_annotation_id":1184510536,"variant_haplotypes":"rs4680","gene":"COMT","drugs":"methylphenidate","pmid":23856854,"phenotype_category":"Efficacy","significance":"yes","notes":"Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002).","sentence":"Genotypes AA + AG is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotype GG.","alleles":"AA + AG","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Disease:Autism Spectrum Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG","comparison_metabolizer_types":null} -{"pmcid":"PMC7499297","article_title":"Bisoprolol responses (PK/PD) in hypertensive patients: A cytochrome P450 (CYP) 2D6 targeted polymorphism study","article_path":"articles/PMC7499297.md","variant_annotation_id":1452507420,"variant_haplotypes":"rs1080985","gene":"CYP2D6","drugs":"bisoprolol","pmid":32994732,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"\"The plasma concentrations of Bisoprolol in CC carriers were significantly lower than GG and CC carriers by 25%, and 51% respectively. Higher systolic and diastolic blood pressure was also observed in CC carriers than GG and CC carriers so there is a window to increase the dose for these patients. The average systolic blood pressure in CC carriers was 139.8 mmHg compared to 128.8 mmHg in GG carriers and 121.5 mmHg in GC carries. Similarly, the average diastolic blood pressure in CC carriers was 79.9 mmHg compared to 73.6 mmHg in GG carriers and 73.7 mmHg in CC carriers.\"","sentence":"Genotype CC is associated with decreased concentrations of bisoprolol in people with Cardiovascular Diseases as compared to genotypes CG + GG.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Cardiovascular Disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3746708","article_title":"An Intronic Variant in OPRD1 Predicts Treatment Outcome for Opioid Dependence in African-Americans","article_path":"articles/PMC3746708.md","variant_annotation_id":1449157145,"variant_haplotypes":"rs678849","gene":"OPRD1","drugs":"buprenorphine","pmid":23612435,"phenotype_category":"Efficacy","significance":"yes","notes":"Efficacy was determined based on the number of opioid-positive drug screens that each patient had during treatment. Patients with the CC genotype had significantly more positive drug screens during 24 weeks of treatment than the combined group of patients with the CT or TT genotypes.","sentence":"Genotype CC is associated with decreased response to buprenorphine in people with Opioid-Related Disorders as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC4385537","article_title":"Interferon-\u03bb3 polymorphisms in pegylated-interferon-\u03b1 plus ribavirin therapy for genotype-2 chronic hepatitis C","article_path":"articles/PMC4385537.md","variant_annotation_id":1447676959,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":25852275,"phenotype_category":"Efficacy","significance":"yes","notes":"for chronically HCV G2-infected patients who did not achieve rapid virologic response (non-RVR). This variant is not associated SVR for patients infected with genotype-2 chronic hepatitis C and have achieved RVR.","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC3780966","article_title":"Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide","article_path":"articles/PMC3780966.md","variant_annotation_id":1183632042,"variant_haplotypes":"rs238","gene":null,"drugs":"\"diuretics\", \"hydrochlorothiazide\", \"Thiazides, plain\"","pmid":23753411,"phenotype_category":"Efficacy","significance":"yes","notes":"The association was significant in PEAR + GERA, but not in NORDIL (in which the effect was opposite, though small) or in the 3-study meta-analysis. Observations: 3.11 mm Hg decrease in reduction of systolic blood pressure per A allele in PEAR + GERA, 0.45 mm Hg greater reduction in systolic blood pressure per A allele in NORDIL and 2.22 mm Hg decrease in reduction of systolic blood pressure per A allele in PEAR + GERA + NORDIL.","sentence":"Allele A is associated with decreased response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hypertension","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2911553","article_title":"CYP4F2 rs2108622: a minor significant genetic factor of warfarin dose in Han Chinese patients with mechanical heart valve replacement","article_path":"articles/PMC2911553.md","variant_annotation_id":981483998,"variant_haplotypes":"CYP2C9*1, CYP2C9*3","gene":"CYP2C9","drugs":"warfarin","pmid":20653676,"phenotype_category":"Dosage, Efficacy","significance":"yes","notes":"2.1 mg/day vs 2.9 mg/day","sentence":"CYP2C9 *1/*3 + *3/*3 is associated with decreased dose of warfarin in people with mechanical heart valve replacement as compared to CYP2C9 *1/*1.","alleles":"*1/*3 + *3/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:mechanical heart valve replacement","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*1/*1","comparison_metabolizer_types":null} -{"pmcid":"PMC4631184","article_title":"In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles","article_path":"articles/PMC4631184.md","variant_annotation_id":1444705743,"variant_haplotypes":"CYP2D6 intermediate metabolizers","gene":"CYP2D6","drugs":"tamoxifen","pmid":25907378,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"EMs were treated with 20mg/day tamoxifen, while IMs and PMs were treated with 40mg/day. Doubling the dose of tamoxifen resulted in similar endoxifen concentrations for EM/EM vs EM/PM and IM/IM concentration and a higher endoxifen concentration for EM/IM. Endoxifen concentration for IM/PM and PM/PM stayed significantly lower compared to EM/EM. The patients of the cohort (83% White, 15% Black) were genotype with AmpliChip CYP450 test. The variations used to define the star alleles are not reported. The diplotypes of the patients are not reported. The alleles found in the cohort are not explicit reported but graphic 3 shows *1, *2, *35, *9, *10, *17, *29, and *41. The study included UMs and PM but no CYP2D6 star allele is reported for those phenotypes. *1, *2, *35 are grouped as active alleles and any combination of these defines the extensive metabolizer. *9, *10, *17, *29, and *41 are grouped as reduced function alleles. The article subgroups the IMs into EM/IM, EM/PM, IM/IM, IM/PM.","sentence":"CYP2D6 intermediate metabolizer is associated with increased dose of tamoxifen in women Breast Neoplasms as compared to CYP2D6 normal metabolizer.","alleles":null,"specialty_population":null,"metabolizer_types":"intermediate metabolizer","is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women","population_phenotypes_or_diseases":"Disease:Breast Neoplasms","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":"normal metabolizer"} -{"pmcid":"PMC6714673","article_title":"Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients","article_path":"articles/PMC6714673.md","variant_annotation_id":1449251596,"variant_haplotypes":"rs2108622","gene":"CYP4F2","drugs":"warfarin","pmid":28049362,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele T is not associated with dose of warfarin as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC6493076","article_title":"Gene\u2010Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population","article_path":"articles/PMC6493076.md","variant_annotation_id":1183699010,"variant_haplotypes":"rs498618","gene":"KCNT1","drugs":"antiepileptics","pmid":24279416,"phenotype_category":"Efficacy","significance":"no","notes":"No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses). Please note alleles have been complemented to the plus chromosomal strand.","sentence":"Allele A is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Epilepsy, idiopathic generalized","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC3639978","article_title":"Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials","article_path":"articles/PMC3639978.md","variant_annotation_id":1183679423,"variant_haplotypes":"CYP2C19*1, CYP2C19*2, CYP2C19*3","gene":"CYP2C19","drugs":"omeprazole","pmid":23646118,"phenotype_category":"Efficacy","significance":"no","notes":"No significant difference in eradication rate of Helicobacter pylori (H. pylori) were seen between the two genotype groups.This was a meta-analysis and included 6 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received the antibiotics amoxicillin and clarithromycin as part of triple therapy.","sentence":"CYP2C19 *1/*2 + *1/*3 is not associated with response to omeprazole in people with Helicobacter Infections as compared to CYP2C19 *2/*2 + *2/*3 + *3/*3.","alleles":"*1/*2 + *1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Are","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"*2/*2 + *2/*3 + *3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC3273458","article_title":"Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-\u03b1 and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients","article_path":"articles/PMC3273458.md","variant_annotation_id":1444705100,"variant_haplotypes":"rs12979860","gene":"IFNL3, IFNL4","drugs":"peginterferon alfa-2b, ribavirin","pmid":22328925,"phenotype_category":"Efficacy","significance":"yes","notes":"This genotype is associated with sustained virological response (SVR).","sentence":"Genotype CC is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes CT + TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Hepatitis C virus infection, Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":"and","comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC3310336","article_title":"Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness","article_path":"articles/PMC3310336.md","variant_annotation_id":769182345,"variant_haplotypes":"rs28399504","gene":"CYP2C19","drugs":"clopidogrel","pmid":21358751,"phenotype_category":"Other","significance":"no","notes":"This SNP modifies the UM phenotype of CYP2C19*17 to the PM allele CYP2C19*4B.","sentence":"Allele G is associated with decreased metabolism of clopidogrel in people with CYP2C19*17 (rs12248560 T) as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"PK:CYP2C19*17 (rs12248560 T)","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC5904126","article_title":"Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population","article_path":"articles/PMC5904126.md","variant_annotation_id":1450930669,"variant_haplotypes":"rs647041","gene":"CHRNA5","drugs":"nicotine","pmid":29666375,"phenotype_category":"Other","significance":"no","notes":"No significant association between this allele and status as a smoker or non-smoker.","sentence":"Allele T is not associated with exposure to nicotine in men as compared to allele C.","alleles":"T","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"exposure to","multiple_drugs_and_or":null,"population_types":"in men","population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"C","comparison_metabolizer_types":null} -{"pmcid":"PMC8673616","article_title":"Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences","article_path":"articles/PMC8673616.md","variant_annotation_id":1451679111,"variant_haplotypes":"rs73568641","gene":null,"drugs":"methadone","pmid":34910759,"phenotype_category":"Dosage","significance":"no","notes":"The C allele was associated with reduced dose of methadone in female patients. However, this was not significant. No association was found in male patients. The significance threshold was set at p<0.017. This SNP is described in the paper as an OPRM1 SNP.","sentence":"Allele C is associated with decreased dose of methadone in women with Opioid-Related Disorders as compared to allele T.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in women with","population_phenotypes_or_diseases":"Other:Opioid-Related Disorders","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC3652476","article_title":"Rheumatoid Arthritis Risk Allele PTPRC Is Also Associated With Response to Anti\u2013Tumor Necrosis Factor \u03b1 Therapy","article_path":"articles/PMC3652476.md","variant_annotation_id":827808153,"variant_haplotypes":"rs10919563","gene":"PTPRC","drugs":"adalimumab, etanercept, infliximab","pmid":20309874,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele G is associated with increased response to adalimumab, etanercept or infliximab in people with Arthritis, Rheumatoid as compared to allele A.","alleles":"G","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Rheumatoid arthritis","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC4448076","article_title":"MHC class I-related chain B gene polymorphism is associated with virological response to pegylated interferon plus ribavirin therapy in patients with chronic hepatitis C infection","article_path":"articles/PMC4448076.md","variant_annotation_id":1444843486,"variant_haplotypes":"rs8099917","gene":"IFNL3","drugs":"peginterferon alfa-2a, peginterferon alfa-2b, ribavirin","pmid":26075078,"phenotype_category":"Efficacy","significance":"yes","notes":"A multivariate logistic model showed that the IL28B major genotype (TT) was an independent factor contributing to SVR (OR, 7.14; 95% CI, 2.19-23.22; P=0.001).","sentence":"Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic and Hepatitis C, Chronic as compared to genotypes GG + GT.","alleles":"TT","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"response to","multiple_drugs_and_or":"and","population_types":"in people with","population_phenotypes_or_diseases":"Disease:Chronic hepatitis C virus infection","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"GG + GT","comparison_metabolizer_types":null} -{"pmcid":"PMC4195667","article_title":"Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation","article_path":"articles/PMC4195667.md","variant_annotation_id":1185011784,"variant_haplotypes":"rs776746","gene":"CYP3A5","drugs":"tacrolimus","pmid":25310192,"phenotype_category":"Dosage","significance":"yes","notes":"All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. Genotype CC is classified as a CYP3A5 non-expresser (*3/*3) and genotypes CT (*1/*3) + TT (*1/*1) are classified as CYP3A5 expressers. The mean tacrolimus dose of non-expressor donor/ non-expresser recipient pairs was lower as compared to all other donor/recipient combinations.","sentence":"Genotype CC is associated with decreased dose of tacrolimus in children with liver transplantation as compared to genotypes CT + TT.","alleles":"CC","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Liver transplantation","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CT + TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7005197","article_title":"Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population","article_path":"articles/PMC7005197.md","variant_annotation_id":1451550247,"variant_haplotypes":"rs3808035","gene":"RELN","drugs":"aripiprazole, olanzapine, perphenazine, quetiapine, risperidone","pmid":32082176,"phenotype_category":"Efficacy","significance":"no","notes":"Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.","sentence":"Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele A.","alleles":"C","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":"or","population_types":"in people with","population_phenotypes_or_diseases":"Other:Schizophrenia","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"A","comparison_metabolizer_types":null} -{"pmcid":"PMC2686066","article_title":"Pharmacokinetic\u2013 pharmacodynamic analysis of the role of CYP2C19 genotypes in short-term rabeprazole-based triple therapy against Helicobacter pylori","article_path":"articles/PMC2686066.md","variant_annotation_id":1183624342,"variant_haplotypes":"CYP2C19*1","gene":"CYP2C19","drugs":"rabeprazole","pmid":19552744,"phenotype_category":"Efficacy","significance":"no","notes":"as compared to those with the *1/*2 or *1/*3 genotype, or those with the *2/*2 or *2/*3 genotype. No significant differences in eradication rate of Helicobacter pylori were seen between any of the genotype groups. Subjects were treated with rabeprazole for 7 days, and also received amoxicillin and clarithromycin.","sentence":"CYP2C19 *1/*1 is not associated with response to rabeprazole in people with Helicobacter Infections.","alleles":"*1/*1","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Helicobacter Infections","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":null,"comparison_metabolizer_types":null} -{"pmcid":"PMC7870766","article_title":"Brain/blood ratios of methadone and ABCB1 polymorphisms in methadone-related deaths","article_path":"articles/PMC7870766.md","variant_annotation_id":1451401880,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"methadone","pmid":33454797,"phenotype_category":"Metabolism/PK","significance":"yes","notes":"Cases with the AA genotype had higher medulla/blood concentration ratios of methadone compared to the AG and GG genotypes. Please note that alleles have been complemented to the positive strand.","sentence":"Genotype AA is associated with increased concentrations of methadone as compared to genotypes AG + GG.","alleles":"AA","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"AG + GG","comparison_metabolizer_types":null} -{"pmcid":"PMC3523080","article_title":"PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients","article_path":"articles/PMC3523080.md","variant_annotation_id":1184512536,"variant_haplotypes":"rs12721616","gene":"NR1I2","drugs":"efavirenz","pmid":23173844,"phenotype_category":"Metabolism/PK","significance":"no","notes":"Plasma levels of efavirenz were not statistically significantly different between the CC and TT genotypes of this SNP.","sentence":"Genotype CC is not associated with metabolism of efavirenz in people with HIV Infections as compared to genotype TT.","alleles":"CC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"metabolism of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:HIV infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"TT","comparison_metabolizer_types":null} -{"pmcid":"PMC7393710","article_title":"Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence","article_path":"articles/PMC7393710.md","variant_annotation_id":1451359581,"variant_haplotypes":"rs12666409","gene":"DDC","drugs":"methadone","pmid":32736537,"phenotype_category":"Dosage","significance":"no","notes":null,"sentence":"Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Not associated with","direction_of_effect":null,"pd_pk_terms":"dose of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Heroin Dependence","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"T","comparison_metabolizer_types":null} -{"pmcid":"PMC5833535","article_title":"Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study","article_path":"articles/PMC5833535.md","variant_annotation_id":1449144194,"variant_haplotypes":"rs324899","gene":null,"drugs":"lithium","pmid":29121268,"phenotype_category":"Efficacy","significance":"yes","notes":null,"sentence":"Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"response to","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Bipolar Disorder","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC2767285","article_title":"Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population","article_path":"articles/PMC2767285.md","variant_annotation_id":981751120,"variant_haplotypes":"rs17183814","gene":"SCN2A","drugs":"carbamazepine, phenobarbital, phenytoin, valproic acid","pmid":19694741,"phenotype_category":"Efficacy","significance":"yes","notes":"p value was above significance level after correction for multiple testing. Authors note that association was found at the allele level but not at the genotype level, and that this may be due to a low number of AA individuals.","sentence":"Allele A is associated with resistance to carbamazepine, phenobarbital, phenytoin or valproic acid as compared to allele G.","alleles":"A","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":null,"pd_pk_terms":"resistance to","multiple_drugs_and_or":"or","population_types":null,"population_phenotypes_or_diseases":null,"multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC11755583","article_title":"ABCB1 Polymorphism Is Associated with Higher Carbamazepine Clearance in Children","article_path":"articles/PMC11755583.md","variant_annotation_id":1452827247,"variant_haplotypes":"rs1045642","gene":"ABCB1","drugs":"carbamazepine","pmid":39846525,"phenotype_category":"Metabolism/PK","significance":"not stated","notes":"Alleles complemented. \"Our main finding was that the presence of the ABCB1 1236T-2677T-3435T haplotype was associated with an increased clearance of CBZ in children. \" \"rs1045642 (3435C>T)\"","sentence":"Allele A is associated with increased clearance of carbamazepine in children with Epilepsy as compared to allele G.","alleles":"A","specialty_population":"Pediatric","metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in children with","population_phenotypes_or_diseases":"Other:Epilepsy","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"G","comparison_metabolizer_types":null} -{"pmcid":"PMC5492788","article_title":"Potential Role of Patients\u2019 CYP3A-Status in Clozapine Pharmacokinetics","article_path":"articles/PMC5492788.md","variant_annotation_id":1449146864,"variant_haplotypes":"CYP3A5*1, CYP3A5*3","gene":"CYP3A5","drugs":"clozapine","pmid":28340122,"phenotype_category":"Dosage","significance":"yes","notes":"This was most pronounced in low CYP3A4 expressers (CYP3A4 was assessed by mRNA levels and grouped into low medium and high). The majority of patients were CYP3A5 non-expressers (*3/*3) and ten carried the *1 allele associated with expression of CYP3A5. Those with CYP3A5*1 and normal/high expression of CYP3A4 may require higher doses/be at greater risk of being underdosed.","sentence":"CYP3A5 *1/*3 is associated with decreased concentrations of clozapine in people with schizoaffective disorder or Schizophrenia as compared to CYP3A5 *3/*3.","alleles":"*1/*3","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"decreased","pd_pk_terms":"concentrations of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Disease:Schizoaffective disorder, Disease:Schizophrenia","multiple_phenotypes_or_diseases_and_or":"or","comparison_alleles_or_genotypes":"*3/*3","comparison_metabolizer_types":null} -{"pmcid":"PMC9413960","article_title":"Factors Affecting the Metabolic Conversion of Ciprofloxacin and Exposure to Its Main Active Metabolites in Critically Ill Patients: Population Pharmacokinetic Analysis of Desethylene Ciprofloxacin","article_path":"articles/PMC9413960.md","variant_annotation_id":1451922360,"variant_haplotypes":"rs762551","gene":"CYP1A2","drugs":"ciprofloxacin","pmid":36015253,"phenotype_category":null,"significance":"not stated","notes":"as measured by increased metabolite elimination rate constant for carriers of variant alleles of CYP1A2 rs762551. Authors do not specify which allele is considered \"v\" and which is \"wt\", reference genomic sequence is C therefore treated \"wt\" as C.","sentence":"Genotypes AA + AC is associated with increased clearance of ciprofloxacin in people with Infectious disease as compared to genotype CC.","alleles":"AA + AC","specialty_population":null,"metabolizer_types":null,"is_plural":"Is","is_is_not_associated":"Associated with","direction_of_effect":"increased","pd_pk_terms":"clearance of","multiple_drugs_and_or":null,"population_types":"in people with","population_phenotypes_or_diseases":"Other:Infectious disease","multiple_phenotypes_or_diseases_and_or":null,"comparison_alleles_or_genotypes":"CC","comparison_metabolizer_types":null} diff --git a/data/pmcid_mapping.json b/data/pmcid_mapping.json deleted file mode 100644 index bcf22b1..0000000 --- a/data/pmcid_mapping.json +++ /dev/null @@ -1 +0,0 @@ -{"12895196": "PMC1884285", "17872605": "PMC1952551", "18594531": "PMC2480976", "19133059": 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b/data/provided_annotations_by_pmcid.json deleted file mode 100644 index 0967e53..0000000 --- a/data/provided_annotations_by_pmcid.json +++ /dev/null @@ -1,3618 +0,0 @@ -{ - "PMC11430164": { - "pmid": 39346054, - "pmcid": "PMC11430164", - "title": "The effect of gene polymorphism on ticagrelor metabolism: an ", - "study_parameters": {}, - "var_drug_ann": [], - "var_pheno_ann": [], - "var_fa_ann": [ - { - "Variant Annotation ID": 1452626580, - "Variant/Haplotypes": "CYP3A4*1, CYP3A4*2, CYP3A4*3, CYP3A4*4, CYP3A4*5, CYP3A4*9, CYP3A4*14, CYP3A4*15, CYP3A4*16, CYP3A4*17, CYP3A4*19, CYP3A4*24, CYP3A4*28, CYP3A4*29, CYP3A4*31", - "Gene": "CYP3A4", - "Drug(s)": "ticagrelor", - "PMID": 39346054, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "\"CYP3A4 variants could be classified into the following three categories according to the relative clearance values compare with CYP3A4*1: CYP3A4*11, CYP3A4*18 and CYP3A4*33 showed significantly higher intrinsic clearance than that of CYP3A4*1; four CYP3A4 variants (CYP3A4*10, CYP3A4*23, CYP3A4*32 and CYP3A4*34) were not significantly different from that of wild-type; the remaining fourteen variants (CYP3A4*2-*5, *9, *14-*17, *19, *24, *28, *29, and *31,) exhibited significantly reduced CLint in different degrees (1.48%\u201375.11% relative clearance) compared to that of wild-type\"", - "Sentence": "CYP3A4 *2 + *3 + *4 + *5 + *9 + *14 + *15 + *16 + *17 + *19 + *24 + *28 + *29 + *31 is associated with decreased clearance of ticagrelor as compared to CYP3A4 *1.", - "Alleles": "*2 + *3 + *4 + *5 + *9 + *14 + *15 + *16 + *17 + *19 + *24 + *28 + *29 + *31", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Functional terms": "clearance of", - "Comparison Allele(s) or Genotype(s)": "*1" - }, - { - "Variant Annotation ID": 1452626560, - "Variant/Haplotypes": "CYP3A4*1, CYP3A4*11, CYP3A4*18, CYP3A4*33", - "Gene": "CYP3A4", - "Drug(s)": "ticagrelor", - "PMID": 39346054, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "\"CYP3A4 variants could be classified into the following three categories according to the relative clearance values compare with CYP3A4*1: CYP3A4*11, CYP3A4*18 and CYP3A4*33 showed significantly higher intrinsic clearance than that of CYP3A4*1; four CYP3A4 variants (CYP3A4*10, CYP3A4*23, CYP3A4*32 and CYP3A4*34) were not significantly different from that of wild-type; the remaining fourteen variants (CYP3A4*2-*5, *9, *14-*17, *19, *24, *28, *29, and *31,) exhibited significantly reduced CLint in different degrees (1.48%\u201375.11% relative clearance) compared to that of wild-type\"", - "Sentence": "CYP3A4 *11 + *18 + *33 is associated with increased clearance of ticagrelor as compared to CYP3A4 *1.", - "Alleles": "*11 + *18 + *33", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Functional terms": "clearance of", - "Comparison Allele(s) or Genotype(s)": "*1" - } - ] - }, - "PMC10786722": { - "pmid": 38216550, - "pmcid": "PMC10786722", - "title": "Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity.", - "study_parameters": { - "Study Parameters ID": 1452352264, - "Variant Annotation ID": 1452352260, - "Study Cases": 855.0, - "Characteristics": "plasma dihydrouracil/uracil", - "Characteristics Type": "Study Cohort", - "P Value": "< 0.05", - "Biogeographical Groups": "Unknown" - }, - "var_drug_ann": [], - "var_pheno_ann": [], - "var_fa_ann": [ - { - "Variant Annotation ID": 1452352260, - "Variant/Haplotypes": "rs56038477", - "Gene": "DPYD", - "PMID": 38216550, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "\"Consistent with previous reports, the c.1236G>A (rs56038477) which is included in the risk haplotype B3 was significantly associated with low DPD activity [30, 31]. Nevertheless, compared to the most clinically relevant DPYD defective variants, the association of these three variants with DPD activity was rather modest (Fig. 2).\" NOTE: the HapB has two variants, and c.1129-5923C>G rs75017182 is the causative variant, a recent study has shown they are not in perfect LD in all populations [PMID: 38129972].", - "Sentence": "Genotypes CT + TT is associated with decreased activity of DPYD as compared to genotype CC.", - "Alleles": "CT + TT", - "Assay type": "plasma dihydrouracil/uracil", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Functional terms": "activity of", - "Gene/gene product": "DPYD", - "Comparison Allele(s) or Genotype(s)": "CC" - }, - { - "Variant Annotation ID": 1452352325, - "Variant/Haplotypes": "rs1801160", - "Gene": "DPYD", - "PMID": 38216550, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "\"The association between common DPYD genetic variants (MAF\u2009\u2265\u20091%) and DPD activity is summarized in Fig. 2. Among the seven genetic variants identified, three variants (c.1236G>A or rs56038477 p.Glu412Glu ; c.496A>G or rs2297595 p.Met166Val; DPYD*6 c.2194G>A or rs1801160 p.Val732Ile) were significantly more frequent in the group of patients exhibiting partial DPD deficiency. Consistent with previous reports, the c.1236G>A (rs56038477) which is included in the risk haplotype B3 was significantly associated with low DPD activity [30, 31]. Nevertheless, compared to the most clinically relevant DPYD defective variants, the association of these three variants with DPD activity was rather modest (Fig. 2).", - "Sentence": "Genotypes CT + TT is associated with decreased activity of DPYD as compared to genotype CC.", - "Alleles": "CT + TT", - "Assay type": "plasma dihydrouracil/uracil", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Functional terms": "activity of", - "Gene/gene product": "DPYD", - "Comparison Allele(s) or Genotype(s)": "CC" - }, - { - "Variant Annotation ID": 1452352320, - "Variant/Haplotypes": "rs2297595", - "Gene": "DPYD", - "PMID": 38216550, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "\"The association between common DPYD genetic variants (MAF\u2009\u2265\u20091%) and DPD activity is summarized in Fig. 2. Among the seven genetic variants identified, three variants (c.1236G>A or rs56038477 p.Glu412Glu ; c.496A>G or rs2297595 p.Met166Val; DPYD*6 c.2194G>A or rs1801160 p.Val732Ile) were significantly more frequent in the group of patients exhibiting partial DPD deficiency. Consistent with previous reports, the c.1236G>A (rs56038477) which is included in the risk haplotype B3 was significantly associated with low DPD activity [30, 31]. Nevertheless, compared to the most clinically relevant DPYD defective variants, the association of these three variants with DPD activity was rather modest (Fig. 2).", - "Sentence": "Genotypes CC + CT is associated with decreased activity of DPYD as compared to genotype TT.", - "Alleles": "CC + CT", - "Assay type": "plasma dihydrouracil/uracil", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Functional terms": "activity of", - "Gene/gene product": "DPYD", - "Comparison Allele(s) or Genotype(s)": "TT" - } - ] - }, - "PMC10993165": { - "pmid": 38568509, - "pmcid": "PMC10993165", - "title": "Human Leukocyte Antigens and Sulfamethoxazole/Cotrimoxazole-Induced Severe Cutaneous Adverse Reactions: A Systematic Review and Meta-Analysis.", - "study_parameters": { - "Study Parameters ID": 1452437426, - "Variant Annotation ID": 1452437420, - "Study Type": "meta-analysis", - "Study Cases": 158.0, - "Study Controls": 226.0, - "Characteristics": "2 studies, SCAR v tolerant controls", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.01", - "Ratio Stat Type": "OR", - "Ratio Stat": 2.23, - "Confidence Interval Start": 1.2, - "Confidence Interval Stop": 4.14, - "Biogeographical Groups": "Multiple groups" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1452437420, - "Variant/Haplotypes": "HLA-B*15:02", - "Gene": "HLA-B", - "Drug(s)": "sulfamethoxazole, sulfamethoxazole / trimethoprim", - "PMID": 38568509, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"The associations between patients with SMX/CTX-induced SCARs and different HLA alleles are presented in Figure 2, Table 2, and eTable 3 in Supplement 1. Significant associations were found in HLA-A*11:01 (OR, 2.10; 95% CI, 1.11-4.00), HLA-B*13:01 (OR, 5.96; 95% CI, 1.58-22.56), HLA-B*15:02 (OR, 2.23; 95% CI, 1.20-4.14), HLA-B*38:02 (OR, 3.47; 95% CI, 1.42-8.48), and HLA-C*08:01 (OR, 2.63; 95% CI, 1.07-6.44) compared with tolerant controls. \"In the Stevens-Johnson syndrome/toxic epidermal necrolysis subgroup, significant associations were found in HLA-B*15:02 (OR, 3.01; 95% CI, 1.56-5.80) and HLA-B*38:02 (OR, 5.13; 95% CI, 1.96-13.47). \"", - "Sentence": "HLA-B *15:02 is associated with increased likelihood of Stevens-Johnson Syndrome, Epidermal Necrolysis, Toxic or severe cutaneous adverse reactions when treated with sulfamethoxazole or sulfamethoxazole / trimethoprim.", - "Alleles": "*15:02", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Stevens-Johnson Syndrome, Side Effect:Toxic Epidermal Necrolysis, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "or" - }, - { - "Variant Annotation ID": 1452438980, - "Variant/Haplotypes": "HLA-B*13:01", - "Gene": "HLA-B", - "Drug(s)": "sulfamethoxazole, sulfamethoxazole / trimethoprim", - "PMID": 38568509, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"The associations between patients with SMX/CTX-induced SCARs and different HLA alleles are presented in Figure 2, Table 2, and eTable 3 in Supplement 1. Significant associations were found in HLA-A*11:01 (OR, 2.10; 95% CI, 1.11-4.00), HLA-B*13:01 (OR, 5.96; 95% CI, 1.58-22.56), HLA-B*15:02 (OR, 2.23; 95% CI, 1.20-4.14), HLA-B*38:02 (OR, 3.47; 95% CI, 1.42-8.48), and HLA-C*08:01 (OR, 2.63; 95% CI, 1.07-6.44) compared with tolerant controls.\"", - "Sentence": "HLA-B *13:01 is associated with increased likelihood of severe cutaneous adverse reactions when treated with sulfamethoxazole or sulfamethoxazole / trimethoprim.", - "Alleles": "*13:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "or" - }, - { - "Variant Annotation ID": 1452439000, - "Variant/Haplotypes": "HLA-B*38:02", - "Gene": "HLA-B", - "Drug(s)": "sulfamethoxazole, sulfamethoxazole / trimethoprim", - "PMID": 38568509, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"The associations between patients with SMX/CTX-induced SCARs and different HLA alleles are presented in Figure 2, Table 2, and eTable 3 in Supplement 1. Significant associations were found in HLA-A*11:01 (OR, 2.10; 95% CI, 1.11-4.00), HLA-B*13:01 (OR, 5.96; 95% CI, 1.58-22.56), HLA-B*15:02 (OR, 2.23; 95% CI, 1.20-4.14), HLA-B*38:02 (OR, 3.47; 95% CI, 1.42-8.48), and HLA-C*08:01 (OR, 2.63; 95% CI, 1.07-6.44) compared with tolerant controls. \"In the Stevens-Johnson syndrome/toxic epidermal necrolysis subgroup, significant associations were found in HLA-B*15:02 (OR, 3.01; 95% CI, 1.56-5.80) and HLA-B*38:02 (OR, 5.13; 95% CI, 1.96-13.47). \"", - "Sentence": "HLA-B *38:02 is associated with increased likelihood of Stevens-Johnson Syndrome, Epidermal Necrolysis, Toxic or severe cutaneous adverse reactions when treated with sulfamethoxazole or sulfamethoxazole / trimethoprim.", - "Alleles": "*38:02", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Stevens-Johnson Syndrome, Side Effect:Toxic Epidermal Necrolysis, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "or" - } - ], - "var_fa_ann": [] - }, - "PMC12331468": { - "pmid": 40786508, - "pmcid": "PMC12331468", - "title": "Genetic variants and clinical determinants affecting the response to 5-Fluorouracil-based treatment in Chilean patients with advanced colorectal cancer.", - "study_parameters": { - "Study Parameters ID": 1454223606, - "Variant Annotation ID": 1454223600, - "Study Cases": 82.0, - "Characteristics": "neuropathy", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.05", - "Biogeographical Groups": "Latino" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1454223600, - "Variant/Haplotypes": "rs1801265", - "Gene": "DPYD", - "Drug(s)": "FOLFOX, XELOX", - "PMID": 40786508, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"Further analysis of ungrouped ADRs indicated a higher risk of neuropathy in patients carrying the C allele of the DPYD rs1801265 polymorphism ( Supplementary Table 3 , codominant model T/C genotype OR = 30.0, p-value = 0.0049, dominant model OR = 4.583, p-value = 0.05).\" Alleles complemented.", - "Sentence": "Genotypes AG + GG is associated with increased likelihood of Peripheral Nervous System Diseases when treated with FOLFOX or XELOX in people with Colorectal Neoplasms as compared to genotype AA.", - "Alleles": "AG + GG", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Peripheral Nervous System Diseases", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "or", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Colorectal Neoplasms", - "Comparison Allele(s) or Genotype(s)": "AA" - }, - { - "Variant Annotation ID": 1454223640, - "Variant/Haplotypes": "rs1695", - "Gene": "GSTP1", - "Drug(s)": "FOLFOX, XELOX", - "PMID": 40786508, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"The G allele of the GSTP1 rs1695 polymorphism was correlated with a lower risk of hematological and nervous system disorders in treated patients, including a reduced risk of neuropathy. This was observed through the analysis of individual ADR using univariate logistic regression without CTCAE v5.0 grouping ( Supplementary Table 3 , OR = 0.01, p-value = 0.008). However, we observed a higher risk of mucositis in patients carrying this polymorphism ( Supplementary Table 3 , OR = 2.27, p-value = 0.036).\"", - "Sentence": "Genotype GG is associated with decreased likelihood of Peripheral Nervous System Diseases or Myelosuppression when treated with FOLFOX or XELOX in people with Colorectal Neoplasms as compared to genotypes AA + AG.", - "Alleles": "GG", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Peripheral Nervous System Diseases, Side Effect:Myelosuppression", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "or", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Colorectal Neoplasms", - "Comparison Allele(s) or Genotype(s)": "AA + AG" - }, - { - "Variant Annotation ID": 1454223652, - "Variant/Haplotypes": "rs11280056", - "Gene": "TYMS", - "Drug(s)": "FOLFOX, XELOX", - "PMID": 40786508, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"TYMS 3\u2019UTR 6bp deletion (rs11280056) was the only polymorphism associated with a lower risk of severe hematological disorders (dominant model OR = 0,098, CI 95% 0.013 \u2013 0.441, p-value =0.005).\"", - "Sentence": "Genotypes TTA/TTA + TTA/TTAAAGTTA is associated with decreased likelihood of Peripheral Nervous System Diseases or Myelosuppression when treated with FOLFOX or XELOX in people with Colorectal Neoplasms.", - "Alleles": "TTA/TTA + TTA/TTAAAGTTA", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Peripheral Nervous System Diseases, Side Effect:Myelosuppression", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "or", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Colorectal Neoplasms" - }, - { - "Variant Annotation ID": 1454223625, - "Variant/Haplotypes": "rs45445694", - "Gene": "TYMS", - "Drug(s)": "FOLFOX, XELOX", - "PMID": 40786508, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"3R genotype of TYMS 5\u2019UTR (rs45445694) is associated as a risk factor for skin and subcutaneous tissue disorders (OR = 6.40; p = 0.029).\"", - "Sentence": "Genotype (GGCCTGCCTCCGTCCCGCCGCGCCACTT)3/(GGCCTGCCTCCGTCCCGCCGCGCCACTT)3 is associated with increased likelihood of Hand-foot syndrome, Exanthema or Drug Toxicity when treated with FOLFOX or XELOX in people with Colorectal Neoplasms.", - "Alleles": "(GGCCTGCCTCCGTCCCGCCGCGCCACTT)3/(GGCCTGCCTCCGTCCCGCCGCGCCACTT)3", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Hand-foot syndrome, Side Effect:Exanthema, Side Effect:Drug Toxicity", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "or", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Colorectal Neoplasms" - }, - { - "Variant Annotation ID": 1454223701, - "Variant/Haplotypes": "rs1695", - "Gene": "GSTP1", - "Drug(s)": "FOLFOX, XELOX", - "PMID": 40786508, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"The G allele of the GSTP1 rs1695 polymorphism was correlated with a lower risk of hematological and nervous system disorders in treated patients, including a reduced risk of neuropathy. This was observed through the analysis of individual ADR using univariate logistic regression without CTCAE v5.0 grouping ( Supplementary Table 3 , OR = 0.01, p-value = 0.008). However, we observed a higher risk of mucositis in patients carrying this polymorphism ( Supplementary Table 3 , OR = 2.27, p-value = 0.036).\"", - "Sentence": "Genotype GG is associated with increased likelihood of Mucositis when treated with FOLFOX or XELOX in people with Colorectal Neoplasms as compared to genotypes AA + AG.", - "Alleles": "GG", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Mucositis", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "or", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Colorectal Neoplasms", - "Comparison Allele(s) or Genotype(s)": "AA + AG" - } - ], - "var_fa_ann": [] - }, - "PMC12319246": { - "pmid": 40761554, - "pmcid": "PMC12319246", - "title": "Pharmacogenetics association with long-term clinical evolution in a kidney transplant patients cohort.", - "study_parameters": { - "Study Parameters ID": 1454211336, - "Variant Annotation ID": 1454211330, - "Study Cases": 79.0, - "Characteristics": "acute rejection during 12-year follow-up, recipient", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.047", - "Biogeographical Groups": "Unknown" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1454211330, - "Variant/Haplotypes": "rs2740574", - "Gene": "CYP3A4", - "Drug(s)": "tacrolimus", - "PMID": 40761554, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "\"Regarding acute rejection, statistical analysis showed that the CYP3A4 rs2740574 AA variant in the recipient could offer a protective effect (OR: 0.080; p-value: 0.047) compared to other variants at that location. \" Alleles complemented.", - "Sentence": "Genotype TT is associated with decreased likelihood of Transplant rejection when treated with tacrolimus in people with Kidney Transplantation as compared to genotypes CC + CT.", - "Alleles": "TT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Transplant rejection", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Kidney Transplantation", - "Comparison Allele(s) or Genotype(s)": "CC + CT" - }, - { - "Variant Annotation ID": 1454211347, - "Variant/Haplotypes": "rs3745274", - "Gene": "CYP2B6", - "Drug(s)": "tacrolimus", - "PMID": 40761554, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "\"The presence of the TT variant in SLCO1B1 rs4149056 in the recipient and the GT variant in CYP2B6 rs3745274 in the donor were also statistically associated with a reduced risk (OR: 0.16 and 0.2, respectively) of acute rejection.\"", - "Sentence": "Genotype GT is associated with decreased likelihood of Transplant rejection when treated with tacrolimus in people with Kidney Transplantation.", - "Alleles": "GT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Transplant rejection", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Kidney Transplantation" - }, - { - "Variant Annotation ID": 1454211400, - "Variant/Haplotypes": "rs2306283", - "Gene": "SLCO1B1", - "Drug(s)": "tacrolimus", - "PMID": 40761554, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "From Table 3. AA and AG genotype of Recipient and AG genotype of donor were association with lower odds of nephrotoxicity", - "Sentence": "Genotypes AA + AG is associated with decreased likelihood of Nephrotoxicity when treated with tacrolimus in people with Kidney Transplantation.", - "Alleles": "AA + AG", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Nephrotoxicity", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Kidney Transplantation" - }, - { - "Variant Annotation ID": 1454211260, - "Variant/Haplotypes": "rs9282564", - "Gene": "ABCB1", - "Drug(s)": "tacrolimus", - "PMID": 40761554, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "\"The AA variant in the rs9282564 SNP of the donor's ABCB1 gene was significantly associated (p-value: 0.029) with a reduced risk (OR: 0.116) of exitus during the follow-up period.\" \"The AG variant in ABCB1 gene rs9282564 of the donor was significantly associated (p-value: 0.042; log-rank) with reduced cumulative survival compared to the AA variant (Fig. 1A).\" Alleles complemented.", - "Sentence": "Genotype TT is associated with decreased risk of Death when treated with tacrolimus in people with Kidney Transplantation as compared to genotypes CC + CT.", - "Alleles": "TT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Efficacy:Death", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Kidney Transplantation", - "Comparison Allele(s) or Genotype(s)": "CC + CT" - }, - { - "Variant Annotation ID": 1454211271, - "Variant/Haplotypes": "rs2273697", - "Gene": "ABCC2", - "Drug(s)": "tacrolimus", - "PMID": 40761554, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "\"patients receiving a graft from a donor with the GA genotype in rs2273697 of ABCC2 were significantly associated (p-value: 0.021) with an increased risk (OR: 4.133) of exitus.\" \" It was observed that the genotype in the donor's ABCC2 rs2273697 could significantly (p-value: 0.003; log-rank) affect survival (Fig. 1B), with the GG variant providing a higher rate during the entire follow-up compared to AA and GA.\"", - "Sentence": "Genotype GG is associated with increased likelihood of overall survival when treated with tacrolimus in people with Kidney Transplantation as compared to genotypes AA + AG.", - "Alleles": "GG", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Overall survival", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Kidney Transplantation", - "Comparison Allele(s) or Genotype(s)": "AA + AG" - }, - { - "Variant Annotation ID": 1454211280, - "Variant/Haplotypes": "rs776746", - "Gene": "CYP3A5", - "Drug(s)": "tacrolimus", - "PMID": 40761554, - "Phenotype Category": "Efficacy", - "Significance": "no", - "Notes": "\"Although the CYP3A5 rs776746 did not show a significant association with survival in logistic regression, the Kaplan-Meier curve was also represented (Fig. 1C) due to its special relevance and clinical evidence on the response to tacrolimus. No significant difference was observed by log-rank either, but it should not be discarded that the GG variant (\u22173/\u22173) could offer an advantage, especially at late post-transplantation stages.\" Alleles complemented. No *1*1 shown on kaplan meier, graph marked as recipient", - "Sentence": "Genotype CC is associated with increased likelihood of overall survival when treated with tacrolimus in people with Kidney Transplantation as compared to genotype CT.", - "Alleles": "CC", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Overall survival", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Kidney Transplantation", - "Comparison Allele(s) or Genotype(s)": "CT" - }, - { - "Variant Annotation ID": 1454211340, - "Variant/Haplotypes": "rs4149056", - "Gene": "SLCO1B1", - "Drug(s)": "tacrolimus", - "PMID": 40761554, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "\"The presence of the TT variant in SLCO1B1 rs4149056 in the recipient and the GT variant in CYP2B6 rs3745274 in the donor were also statistically associated with a reduced risk (OR: 0.16 and 0.2, respectively) of acute rejection.\" \"Recipients with the TT variant in SLCO1B1 rs4149056 showed higher dose-adjusted tacrolimus concentrations, possibly mediating a greater immunosuppressive effect and protecting against rejection, consistent with our logistic regression results (OR: 0.157). \"", - "Sentence": "Genotype TT is associated with decreased likelihood of Transplant rejection when treated with tacrolimus in people with Kidney Transplantation.", - "Alleles": "TT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Transplant rejection", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Kidney Transplantation" - }, - { - "Variant Annotation ID": 1454211323, - "Variant/Haplotypes": "rs4244285", - "Gene": "CYP2C19", - "Drug(s)": "tacrolimus", - "PMID": 40761554, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"An increased risk of nephrotoxicity was observed in patients receiving grafts carrying the AA variant in CYP2C19 rs4244285.\"", - "Sentence": "Genotype AA is associated with increased likelihood of Nephrotoxicity when treated with tacrolimus in people with Kidney Transplantation.", - "Alleles": "AA", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Nephrotoxicity", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Kidney Transplantation" - } - ], - "var_fa_ann": [] - }, - "PMC12260932": { - "pmid": 40672687, - "pmcid": "PMC12260932", - "title": "Azathioprine Metabolites in Erythrocytes and DNA for Therapy Monitoring in Very Early Onset Inflammatory Bowel Disease Pediatric Patients.", - "study_parameters": { - "Study Parameters ID": 1454185885, - "Variant Annotation ID": 1454185880, - "Study Cases": 61.0, - "Characteristics": "Erythrocytes thioguanine nucleotides (TGN)", - "Characteristics Type": "Study Cohort", - "Biogeographical Groups": "Unknown" - }, - "var_drug_ann": [ - { - "Variant Annotation ID": 1454185880, - "Variant/Haplotypes": "rs2413739", - "Gene": "PACSIN2", - "Drug(s)": "deoxy-thioguanosine triphosphate, thioguanosine triphosphate", - "PMID": 40672687, - "Phenotype Category": "Metabolism/PK", - "Significance": "no", - "Notes": "\"PACSIN2 rs2413739 (37 wild types, 34 heterozygous, 16 homozygous variants), no significant associations with azathioprine-active metabolites were found\" \"Erythrocytes thioguanine nucleotides (TGN) were measured by HPLC, and leukocytes incorporated deoxythioguanosine (DNA-TG) byLC-MS/MS\"", - "Sentence": "Allele C is not associated with increased concentrations of deoxy-thioguanosine triphosphate and thioguanosine triphosphate in children with Inflammatory Bowel Diseases as compared to allele T.", - "Alleles": "C", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "PD/PK terms": "concentrations of", - "Multiple drugs And/or": "and", - "Population types": "in children with", - "Population Phenotypes or diseases": "Other:Inflammatory Bowel Diseases", - "Comparison Allele(s) or Genotype(s)": "T" - }, - { - "Variant Annotation ID": 1454185840, - "Variant/Haplotypes": "rs1142345", - "Gene": "TPMT", - "Drug(s)": "deoxy-thioguanosine triphosphate, thioguanosine triphosphate", - "PMID": 40672687, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "\"The TPMT rs1142345 variant (76 wild type, 10 heterozygous) was associated with increased concentrations of both DNA-TG and TGN (Kruskal\u2013Wallis p-value = 0.024 and p-value = 0.00038, Figure 6a,b, respectively); \" \"Erythrocytes thioguanine nucleotides (TGN) were measured by HPLC, and leukocytes incorporated deoxythioguanosine (DNA-TG) byLC-MS/MS\"", - "Sentence": "Genotype CT is associated with increased concentrations of deoxy-thioguanosine triphosphate and thioguanosine triphosphate in children with Inflammatory Bowel Diseases as compared to genotype TT.", - "Alleles": "CT", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "PD/PK terms": "concentrations of", - "Multiple drugs And/or": "and", - "Population types": "in children with", - "Population Phenotypes or diseases": "Other:Inflammatory Bowel Diseases", - "Comparison Allele(s) or Genotype(s)": "TT" - }, - { - "Variant Annotation ID": 1454185900, - "Variant/Haplotypes": "rs2413739", - "Gene": "PACSIN2", - "Drug(s)": "azathioprine", - "PMID": 40672687, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "\"Moreover, the disease activity score was differently distributed on the basis of PACSIN2 rs2413739 genotype (logistic regression not adjusted for repeated observations p-value = 0.04, Figure S9);\" Figure S9 appears to show increased proportions of CC and CT vs TT in the group described not active vs the group active", - "Sentence": "Genotypes CC + CT is associated with increased clinical benefit to azathioprine in children with Inflammatory Bowel Diseases as compared to genotype TT.", - "Alleles": "CC + CT", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "PD/PK terms": "clinical benefit to", - "Population types": "in children with", - "Population Phenotypes or diseases": "Other:Inflammatory Bowel Diseases", - "Comparison Allele(s) or Genotype(s)": "TT" - } - ], - "var_pheno_ann": [], - "var_fa_ann": [] - }, - "PMC10275785": { - "pmid": 37332933, - "pmcid": "PMC10275785", - "title": "Effect of NLRP3 inflammasome genes polymorphism on disease susceptibility and response to TNF-\u03b1 inhibitors in Iraqi patients with rheumatoid arthritis.", - "study_parameters": { - "Study Parameters ID": 1452143368, - "Variant Annotation ID": 1452143360, - "Study Cases": 66.0, - "Study Controls": 33.0, - "Characteristics": "Cases = responders, controls = non-responders", - "Characteristics Type": "Study Cohort", - "Frequency In Cases": 0.265, - "Allele Of Frequency In Cases": "T", - "Frequency In Controls": 0.647, - "Allele Of Frequency In Controls": "T", - "P Value": "< 0.0001", - "Ratio Stat Type": "OR", - "Ratio Stat": 0.183, - "Confidence Interval Start": 0.063, - "Confidence Interval Stop": 0.531, - "Biogeographical Groups": "Near Eastern" - }, - "var_drug_ann": [ - { - "Variant Annotation ID": 1452143360, - "Variant/Haplotypes": "rs2043211", - "Gene": "CARD8", - "Drug(s)": "etanercept, infliximab", - "PMID": 37332933, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "caution, this is an A/T SNP in a gene on the minus strand. Authors show T as minor allele which suggests is reported on plus strand. Responders = \u0394DAS-28 \u2265 1.2 and DAS-28 \u2264 3.2, Non-responders = \u0394DAS-28 \u2264 1.2 and DAS28 \u2264 5.1 (Table 1)", - "Sentence": "Genotype TT is associated with decreased response to etanercept or infliximab in people with Arthritis, Rheumatoid as compared to genotypes AA + AT.", - "Alleles": "TT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "PD/PK terms": "response to", - "Multiple drugs And/or": "or", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Rheumatoid arthritis", - "Comparison Allele(s) or Genotype(s)": "AA + AT" - }, - { - "Variant Annotation ID": 1452143400, - "Variant/Haplotypes": "rs4612666", - "Gene": "NLRP3", - "Drug(s)": "etanercept, infliximab", - "PMID": 37332933, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "Responders = \u0394DAS-28 \u2265 1.2 and DAS-28 \u2264 3.2, Non-responders = \u0394DAS-28 \u2264 1.2 and DAS28 \u2264 5.1 (Table 1)", - "Sentence": "Genotype TT is associated with decreased response to etanercept or infliximab in people with Arthritis, Rheumatoid as compared to genotypes CC + CT.", - "Alleles": "TT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "PD/PK terms": "response to", - "Multiple drugs And/or": "or", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Rheumatoid arthritis", - "Comparison Allele(s) or Genotype(s)": "CC + CT" - } - ], - "var_pheno_ann": [], - "var_fa_ann": [] - }, - "PMC12320098": { - "pmid": 40762011, - "pmcid": "PMC12320098", - "title": "Cytochrome P450 genotype polymorphisms and suboptimal voriconazole serum level in a patient with invasive cerebral fungal infection.", - "study_parameters": {}, - "var_drug_ann": [], - "var_pheno_ann": [], - "var_fa_ann": [] - }, - "PMC5508045": { - "pmid": 28550460, - "pmcid": "PMC5508045", - "title": "The impact of non-genetic and genetic factors on a stable warfarin dose in Thai patients.", - "study_parameters": { - "Study Parameters ID": 1448624167, - "Variant Annotation ID": 1448624157, - "Study Type": "cohort, retrospective", - "Study Cases": 250.0, - "Characteristics": "warfarin; CT genotype assoc. w/avg decrease of 9.7 mg, and TT of 18.1 mg vs CC", - "Characteristics Type": "Drug", - "Frequency In Cases": 0.832, - "Allele Of Frequency In Cases": "T", - "Frequency In Controls": 0.168, - "Allele Of Frequency In Controls": "C", - "P Value": "< 0.001", - "Ratio Stat Type": "OR", - "Biogeographical Groups": "East Asian" - }, - "var_drug_ann": [ - { - "Variant Annotation ID": 1448624157, - "Variant/Haplotypes": "rs9923231", - "Gene": "VKORC1", - "Drug(s)": "warfarin", - "PMID": 28550460, - "Phenotype Category": "Dosage", - "Significance": "yes", - "Notes": "Please note: alleles have been complemented to the + strand.", - "Sentence": "Genotypes CT + TT are associated with decreased dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism or Venous Thrombosis as compared to genotype CC.", - "Alleles": "CT + TT", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "PD/PK terms": "dose of", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis", - "Multiple phenotypes or diseases And/or": "or", - "Comparison Allele(s) or Genotype(s)": "CC" - }, - { - "Variant Annotation ID": 1448624168, - "Variant/Haplotypes": "rs1057910", - "Gene": "CYP2C9", - "Drug(s)": "warfarin", - "PMID": 28550460, - "Phenotype Category": "Dosage", - "Significance": "yes", - "Sentence": "Genotypes AC + CC are associated with decreased dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism and Venous Thrombosis as compared to genotype AA.", - "Alleles": "AC + CC", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "PD/PK terms": "dose of", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis", - "Multiple phenotypes or diseases And/or": "and", - "Comparison Allele(s) or Genotype(s)": "AA" - }, - { - "Variant Annotation ID": 1448624178, - "Variant/Haplotypes": "rs2108622", - "Gene": "CYP4F2", - "Drug(s)": "warfarin", - "PMID": 28550460, - "Phenotype Category": "Dosage", - "Significance": "yes", - "Sentence": "Genotype TT is associated with increased dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism and Venous Thrombosis as compared to genotype CC.", - "Alleles": "TT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "PD/PK terms": "dose of", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis", - "Multiple phenotypes or diseases And/or": "and", - "Comparison Allele(s) or Genotype(s)": "CC" - }, - { - "Variant Annotation ID": 1448624188, - "Variant/Haplotypes": "rs887829", - "Gene": "UGT1A1", - "Drug(s)": "warfarin", - "PMID": 28550460, - "Phenotype Category": "Dosage", - "Significance": "no", - "Sentence": "Allele C is not associated with dose of warfarin in people with Atrial Fibrillation, heart valve replacement, Hypertension, Pulmonary, Pulmonary Embolism and Venous Thrombosis as compared to allele T.", - "Alleles": "C", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "PD/PK terms": "dose of", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:Atrial Fibrillation, Disease:Heart valve replacement, Disease:Pulmonary Hypertension, Disease:Pulmonary Embolism, Disease:Venous Thrombosis", - "Multiple phenotypes or diseases And/or": "and", - "Comparison Allele(s) or Genotype(s)": "T" - } - ], - "var_pheno_ann": [], - "var_fa_ann": [] - }, - "PMC4706412": { - "pmid": 26745506, - "pmcid": "PMC4706412", - "title": "A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics.", - "study_parameters": { - "Study Parameters ID": 1447682702, - "Variant Annotation ID": 1447682700, - "Study Type": "cohort, retrospective", - "Study Cases": 255.0, - "Characteristics": "NCT01318057; CYP4F3 *3 partial reg. coeff. 0.560 (SE 0.2274), adj R sq0.0.673", - "Characteristics Type": "Study Cohort", - "Frequency In Cases": 0.115, - "Allele Of Frequency In Cases": "*3", - "Frequency In Controls": 0.885, - "Allele Of Frequency In Controls": "*1", - "P Value": "= 0.014", - "Ratio Stat Type": "OR", - "Biogeographical Groups": "Latino" - }, - "var_drug_ann": [ - { - "Variant Annotation ID": 1447682700, - "Variant/Haplotypes": "CYP4F2*1, CYP4F2*3", - "Gene": "CYP4F2", - "Drug(s)": "warfarin", - "PMID": 26745506, - "Phenotype Category": "Dosage", - "Significance": "yes", - "Notes": "The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: the derivation cohort was 99% male.", - "Sentence": "CYP4F2 *3 is associated with increased dose of warfarin as compared to CYP4F2 *1.", - "Alleles": "*3", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "PD/PK terms": "dose of", - "Comparison Allele(s) or Genotype(s)": "*1" - }, - { - "Variant Annotation ID": 1447682605, - "Variant/Haplotypes": "CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*8", - "Gene": "CYP2C9", - "Drug(s)": "warfarin", - "PMID": 26745506, - "Phenotype Category": "Dosage", - "Significance": "yes", - "Notes": "The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: the derivation cohort was 99% male and \"variables were included in final lin. reg model if p<0.05 or if association with daily warfarin dose was marginally significant 0.05 = p = 0.20 with strong biological plausibility\".", - "Sentence": "CYP2C9 *2 + *3 + *8 are associated with decreased dose of warfarin as compared to CYP2C9 *1.", - "Alleles": "*2 + *3 + *8", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "PD/PK terms": "dose of", - "Comparison Allele(s) or Genotype(s)": "*1" - }, - { - "Variant Annotation ID": 1447682688, - "Variant/Haplotypes": "rs9923231", - "Gene": "VKORC1", - "Drug(s)": "warfarin", - "PMID": 26745506, - "Phenotype Category": "Dosage", - "Significance": "yes", - "Notes": "The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: the derivation cohort was 99% male.", - "Sentence": "Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.", - "Alleles": "CT + TT", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "PD/PK terms": "dose of", - "Comparison Allele(s) or Genotype(s)": "CC" - }, - { - "Variant Annotation ID": 1447682722, - "Variant/Haplotypes": "rs1800566", - "Gene": "NQO1", - "Drug(s)": "warfarin", - "PMID": 26745506, - "Phenotype Category": "Dosage", - "Significance": "yes", - "Notes": "The authors aimed to develop an admixture-adjusted (genetic ancestry) PGx dosing algorithm for warfarin in Caribbean Hispanics from Puerto Rico. [Algorithm R sq.=0.70, MAE = 0.72 mg/day]. When externally validated with 55 individuals from an independent cohort the novel algorithm predicted 58% of the warfarin dose variance [MAE = 0.89 mg/day, 24% mean bias]. Please note: 1) the derivation cohort was 99% male 2) alleles have been complemented to the + chromosomal strand and 3) \"variables were included in final lin. reg model if p<0.05 or if association with daily warfarin dose was marginally significant 0.05 = p = 0.20 with strong biological plausability\".", - "Sentence": "Genotypes AA + AG are associated with increased dose of warfarin as compared to genotype GG.", - "Alleles": "AA + AG", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "PD/PK terms": "dose of", - "Comparison Allele(s) or Genotype(s)": "GG" - } - ], - "var_pheno_ann": [], - "var_fa_ann": [] - }, - "PMC11603346": { - "pmid": 39604537, - "pmcid": "PMC11603346", - "title": "Association between the CYP2B6 polymorphisms and nonnucleoside reverse transcriptase inhibitors drug-induced liver injury: a systematic review and meta-analysis.", - "study_parameters": { - "Study Parameters ID": 1452720988, - "Variant Annotation ID": 1452720980, - "Study Type": "meta-analysis", - "Study Cases": 504.0, - "Characteristics": "2 studies (Carr, Giacomelli): DILI", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.01", - "Ratio Stat Type": "OR", - "Ratio Stat": 0.42, - "Confidence Interval Start": 0.21, - "Confidence Interval Stop": 0.84, - "Biogeographical Groups": "Multiple groups, \"The meta-analysis of the link between CYP2B6 genotypes and EFV-induced liver injury was only derived from the African population, as well as NVP-induced liver injury were obtained from only African and Caucasian populations. \"" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1452720980, - "Variant/Haplotypes": "CYP2B6*1, CYP2B6*6", - "Gene": "CYP2B6", - "Drug(s)": "nevirapine", - "PMID": 39604537, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"According to the results of the sensitivity analysis, the substantial relationships between the CYP2B6 *1/*6 allele and a combination of *1/*6 + *6/*6 alleles with a lower risk of NVP-induced liver injury were not attributable to chance. \"", - "Sentence": "CYP2B6 *1/*6 + *6/*6 is associated with decreased likelihood of Drug-induced liver injury when treated with nevirapine in people with HIV infectious disease as compared to CYP2B6 *1/*1.", - "Alleles": "*1/*6 + *6/*6", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Drug-induced liver injury", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "*1/*1" - }, - { - "Variant Annotation ID": 1452721001, - "Variant/Haplotypes": "CYP2B6*1, CYP2B6*6", - "Gene": "CYP2B6", - "Drug(s)": "efavirenz", - "PMID": 39604537, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"Compared with normal metabolizers, CYP2B6 *6 carriers were significantly more susceptible to EFV-induced liver injury, with an odds ratio (OR) and 95% confidence interval (CI) of 1.83 (1.15\u20132.90), 2.48 (1.28\u20134.79), and 1.94 (1.24\u20133.01) for heterozygous, homozygous, and combination of both alleles, respectively, as well as P value less than 0.05 (Table 2).\"", - "Sentence": "CYP2B6 *1/*6 + *6/*6 is associated with increased likelihood of Drug-induced liver injury when treated with efavirenz in people with HIV infectious disease as compared to CYP2B6 *1/*1.", - "Alleles": "*1/*6 + *6/*6", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Drug-induced liver injury", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "*1/*1" - } - ], - "var_fa_ann": [] - }, - "PMC2859392": { - "pmid": 20338069, - "pmcid": "PMC2859392", - "title": "Effects of CYP2B6 G516T polymorphisms on plasma efavirenz and nevirapine levels when co-administered with rifampicin in HIV/TB co-infected Thai adults.", - "study_parameters": { - "Study Parameters ID": 1448993668, - "Variant Annotation ID": 1448993666, - "Study Type": "cohort", - "Study Cases": 65.0, - "Characteristics": "HIV-1/TB co-infected receiving efavirenz-based ART and an anti-TB drug regimen.", - "Characteristics Type": "Study Cohort", - "Frequency In Cases": 0.62, - "Allele Of Frequency In Cases": "G", - "P Value": "> 0.05", - "Ratio Stat Type": "OR", - "Biogeographical Groups": "East Asian" - }, - "var_drug_ann": [ - { - "Variant Annotation ID": 1448993666, - "Variant/Haplotypes": "rs3745274", - "Gene": "CYP2B6", - "Drug(s)": "efavirenz", - "PMID": 20338069, - "Phenotype Category": "Efficacy", - "Significance": "no", - "Notes": "No significant difference in median CD4 T cell counts of each genotype at different time points was seen in efavirenz group (p = 0.818, 0.838, 0.783, 0.753 and 0.587 for baseline, weeks 12, 24, 36 and 48 of ART, respectively).", - "Sentence": "Genotype TT is not associated with response to efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.", - "Alleles": "TT", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "PD/PK terms": "response to", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease, Disease:Tuberculosis", - "Multiple phenotypes or diseases And/or": "and", - "Comparison Allele(s) or Genotype(s)": "GG + GT" - }, - { - "Variant Annotation ID": 1184988061, - "Variant/Haplotypes": "rs3745274", - "Gene": "CYP2B6", - "Drug(s)": "efavirenz", - "PMID": 20338069, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "Association with significantly increased efavirenz plasma levels. Was significant at week 6, 12 of treatment and 1 month after rifampicin discontinuation.", - "Sentence": "Genotype TT is associated with decreased metabolism of efavirenz in people with HIV Infections and Tuberculosis as compared to genotypes GG + GT.", - "Alleles": "TT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "PD/PK terms": "metabolism of", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease, Disease:Tuberculosis", - "Multiple phenotypes or diseases And/or": "and", - "Comparison Allele(s) or Genotype(s)": "GG + GT" - } - ], - "var_pheno_ann": [], - "var_fa_ann": [] - }, - "PMC10399933": { - "pmid": 37490620, - "pmcid": "PMC10399933", - "title": "Real-world pharmacogenetics of statin intolerance: effects of SLCO1B1, ABCG2 , and CYP2C9 variants.", - "study_parameters": { - "Study Parameters ID": 1452196130, - "Variant Annotation ID": 1452196120, - "Study Cases": 70.0, - "Characteristics": "Statin switch, fluvastatin", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.394", - "Ratio Stat Type": "Unknown", - "Biogeographical Groups": "European" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1452196120, - "Variant/Haplotypes": "CYP2C9*1, CYP2C9*2, CYP2C9*3", - "Gene": "CYP2C9", - "Drug(s)": "fluvastatin", - "PMID": 37490620, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Notes": "effect is described as \"Statin switch\" as measured by changes in prescription refills in the medical record, and attributed to muscle side effects (therefore tagged as toxicity). \"The sample sizes for fluvastatin and pravastatin were relatively small\"\"No statistically significant association was found for fluvastatin\"", - "Sentence": "CYP2C9 *2/*2 + *2/*3 + *3/*3 (assigned as poor metabolizer phenotype) is not associated with increased risk of discontinuation when treated with fluvastatin as compared to CYP2C9 *1/*1 + *1/*2 + *1/*3 (assigned as intermediate metabolizer and normal metabolizer phenotype) .", - "Alleles": "*2/*2 + *2/*3 + *3/*3", - "Metabolizer types": "poor metabolizer", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Discontinuation", - "When treated with/exposed to/when assayed with": "when treated with", - "Comparison Allele(s) or Genotype(s)": "*1/*1 + *1/*2 + *1/*3", - "Comparison Metabolizer types": "normal metabolizer and intermediate metabolizer" - }, - { - "Variant Annotation ID": 1452196040, - "Variant/Haplotypes": "rs4149056", - "Gene": "SLCO1B1", - "Drug(s)": "atorvastatin, fluvastatin, rosuvastatin", - "PMID": 37490620, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Notes": "effect is described as \"Statin switch\" as measured by changes in prescription refills in the medical record, and attributed to muscle side effects (therefore tagged as toxicity). \"No significant association was observed with atorvastatin and rosuvastatin.\" \"The sample sizes for fluvastatin and pravastatin were relatively small\"\"No statistically significant association was found for fluvastatin\"", - "Sentence": "Genotypes CC + CT is not associated with increased risk of discontinuation when treated with atorvastatin, fluvastatin or rosuvastatin as compared to genotype TT.", - "Alleles": "CC + CT", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Discontinuation", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "or", - "Comparison Allele(s) or Genotype(s)": "TT" - }, - { - "Variant Annotation ID": 1452196080, - "Variant/Haplotypes": "rs2231142", - "Gene": "ABCG2", - "Drug(s)": "atorvastatin, fluvastatin, rosuvastatin", - "PMID": 37490620, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Notes": "effect is described as \"Statin switch\" as measured by changes in prescription refills in the medical record, and attributed to muscle side effects (therefore tagged as toxicity). \"No significant association was observed with atorvastatin and rosuvastatin.\" \"The sample sizes for fluvastatin and pravastatin were relatively small\"\"No statistically significant association was found for fluvastatin\" Alleles complemented to plus chromosomal strand.", - "Sentence": "Genotypes GT + TT is not associated with increased risk of discontinuation when treated with atorvastatin, fluvastatin or rosuvastatin as compared to genotype GG.", - "Alleles": "GT + TT", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Discontinuation", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "or", - "Comparison Allele(s) or Genotype(s)": "GG" - }, - { - "Variant Annotation ID": 1452195940, - "Variant/Haplotypes": "rs4149056", - "Gene": "SLCO1B1", - "Drug(s)": "simvastatin", - "PMID": 37490620, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "effect is described as \"Statin switch\" and \"Statin switch + CK measurement\" as measured by changes in prescription refills in the medical record and order of creatinine kinase labs, and attributed to muscle side effects (therefore tagged as toxicity). \"We confirmed the association of SLCO1B1 c.521C/C genotype with simvastatin intolerance both by using phenotype of switching initial statin to another as a marker of statin intolerance\"", - "Sentence": "Genotype CC is associated with increased risk of discontinuation when treated with simvastatin as compared to genotype TT.", - "Alleles": "CC", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Discontinuation", - "When treated with/exposed to/when assayed with": "when treated with", - "Comparison Allele(s) or Genotype(s)": "TT" - }, - { - "Variant Annotation ID": 1452195947, - "Variant/Haplotypes": "rs4149056", - "Gene": "SLCO1B1", - "Drug(s)": "pravastatin", - "PMID": 37490620, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "effect is described as \"Statin switch\" as measured by changes in prescription refills in the medical record, and attributed to muscle side effects (therefore tagged as toxicity). \"The sample sizes for fluvastatin and pravastatin were relatively small, but SLCO1B1 c.521T>C carriers had an increased risk of pravastatin intolerance defined by statin switching when compared to homozygous reference T/T genotype\"", - "Sentence": "Genotypes CC + CT is associated with increased risk of discontinuation when treated with pravastatin as compared to genotype TT.", - "Alleles": "CC + CT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Discontinuation", - "When treated with/exposed to/when assayed with": "when treated with", - "Comparison Allele(s) or Genotype(s)": "TT" - } - ], - "var_fa_ann": [] - }, - "PMC12038368": { - "pmid": 40297930, - "pmcid": "PMC12038368", - "title": "Impacts of Pharmacokinetic Gene Polymorphisms on Steady-State Plasma Concentrations of Simvastatin in Thai Population.", - "study_parameters": { - "Study Parameters ID": 1454052280, - "Variant Annotation ID": 1454052260, - "Study Cases": 89.0, - "Characteristics": "12h simvastatin acid concentrations", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.03", - "Biogeographical Groups": "East Asian" - }, - "var_drug_ann": [ - { - "Variant Annotation ID": 1454052260, - "Variant/Haplotypes": "rs4149056", - "Gene": "SLCO1B1", - "Drug(s)": "simvastatin acid", - "PMID": 40297930, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "\"The results showed that patients with the SLCO1B1 c.521T>C (rs4149056) TC+CC genotype exhibited higher steady\u2010state plasma levels of simvastatin acid (SVA) compared to TT carriers at a dose of 10\u2009mg/day (5.83 vs. 1.95\u2009ng/mL, p\u2009=\u20090.06).\"", - "Sentence": "Genotypes CC + CT is associated with increased concentrations of simvastatin acid in people with Cardiovascular Disease or Dyslipidaemia as compared to genotype TT.", - "Alleles": "CC + CT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "PD/PK terms": "concentrations of", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Cardiovascular Disease, Other:Dyslipidaemia", - "Multiple phenotypes or diseases And/or": "or", - "Comparison Allele(s) or Genotype(s)": "TT" - }, - { - "Variant Annotation ID": 1454052282, - "Variant/Haplotypes": "rs2306283", - "Gene": "SLCO1B1", - "Drug(s)": "simvastatin acid", - "PMID": 40297930, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "\"Additionally, SLCO1B1 rs2306283 was associated with significantly higher SVA levels in patients carrying the G allele (AG+GG genotype) at the same dose (3.63 vs. 1.59\u2009ng/mL, p\u2009=\u20090.04). \"", - "Sentence": "Genotypes AG + GG is associated with increased concentrations of simvastatin acid in people with Cardiovascular Disease or Dyslipidaemia as compared to genotype AA.", - "Alleles": "AG + GG", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "PD/PK terms": "concentrations of", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Cardiovascular Disease, Other:Dyslipidaemia", - "Multiple phenotypes or diseases And/or": "or", - "Comparison Allele(s) or Genotype(s)": "AA" - } - ], - "var_pheno_ann": [], - "var_fa_ann": [] - }, - "PMC4916189": { - "pmid": 26715213, - "pmcid": "PMC4916189", - "title": "Comprehensive Pharmacokinetic, Pharmacodynamic and Pharmacogenetic Evaluation of Once-Daily Efavirenz 400 and 600\u00a0mg in Treatment-Na\u00efve HIV-Infected Patients at 96\u00a0Weeks: Results of the ENCORE1 Study.", - "study_parameters": { - "Study Parameters ID": 1448993785, - "Variant Annotation ID": 1448993783, - "Study Type": "cohort, clinical trial", - "Study Cases": 569.0, - "Characteristics Type": "Unknown", - "P Value": "= 0.016", - "Ratio Stat Type": "OR", - "Biogeographical Groups": "Multiple groups" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1448993783, - "Variant/Haplotypes": "CYP2B6*1, CYP2B6*9", - "Gene": "CYP2B6", - "Drug(s)": "efavirenz", - "PMID": 26715213, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Sentence": "CYP2B6 *9 is associated with increased likelihood of discontinuation when treated with efavirenz in people with HIV as compared to CYP2B6 *1/*1.", - "Alleles": "*9", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Discontinuation", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "*1/*1" - }, - { - "Variant Annotation ID": 1448993767, - "Variant/Haplotypes": "rs3745274", - "Gene": "CYP2B6", - "Drug(s)": "efavirenz", - "PMID": 26715213, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Sentence": "Genotypes GT + TT are associated with increased likelihood of discontinuation when treated with efavirenz in people with HIV Infections as compared to genotype GG.", - "Alleles": "GT + TT", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Discontinuation", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "GG" - }, - { - "Variant Annotation ID": 1448993794, - "Variant/Haplotypes": "rs2472677", - "Gene": "NR1I2", - "Drug(s)": "efavirenz", - "PMID": 26715213, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Sentence": "Genotype TT is associated with decreased likelihood of discontinuation when treated with efavirenz in people with HIV Infections as compared to genotypes CC + CT.", - "Alleles": "TT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Discontinuation", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "CC + CT" - }, - { - "Variant Annotation ID": 1448993759, - "Variant/Haplotypes": "rs3745274", - "Gene": "CYP2B6", - "Drug(s)": "efavirenz", - "PMID": 26715213, - "Phenotype Category": "Efficacy", - "Significance": "no", - "Notes": "This is not associated with virological endpoint (achieving pVL < 200 copies/mL).", - "Sentence": "Allele T is not associated with virological response when treated with efavirenz in people with HIV Infections as compared to allele G.", - "Alleles": "T", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Phenotype": "Efficacy:virological response", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "G" - }, - { - "Variant Annotation ID": 1448993831, - "Variant/Haplotypes": "rs1045642", - "Gene": "ABCB1", - "Drug(s)": "efavirenz", - "PMID": 26715213, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Sentence": "Genotype AA are associated with increased risk of Central Nervous System Diseases when treated with efavirenz in people with HIV Infections as compared to genotype GG.", - "Alleles": "AA", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Central Nervous System Disorder", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "GG" - }, - { - "Variant Annotation ID": 1448993810, - "Variant/Haplotypes": "rs28399499", - "Gene": "CYP2B6", - "Drug(s)": "efavirenz", - "PMID": 26715213, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Sentence": "Genotypes CC + CT are associated with decreased risk of Central Nervous System Diseases when treated with efavirenz in people with HIV Infections as compared to genotype TT.", - "Alleles": "CC + CT", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Central Nervous System Disorder", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "TT" - }, - { - "Variant Annotation ID": 1448993820, - "Variant/Haplotypes": "rs4803419", - "Gene": "CYP2B6", - "Drug(s)": "efavirenz", - "PMID": 26715213, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Sentence": "Genotypes CT + TT are associated with increased risk of Central Nervous System Diseases when treated with efavirenz in people with HIV Infections as compared to genotype CC.", - "Alleles": "CT + TT", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Central Nervous System Disorder", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "CC" - } - ], - "var_fa_ann": [] - }, - "PMC6714829": { - "pmid": 30336686, - "pmcid": "PMC6714829", - "title": "Associations of the SLCO1B1 Polymorphisms With Hepatic Function, Baseline Lipid Levels, and Lipid-lowering Response to Simvastatin in Patients With Hyperlipidemia.", - "study_parameters": { - "Study Parameters ID": 1451226980, - "Variant Annotation ID": 1451226960, - "Study Type": "cohort", - "Study Cases": 542.0, - "Characteristics Type": "Unknown", - "P Value": "= 0.016", - "Biogeographical Groups": "East Asian" - }, - "var_drug_ann": [ - { - "Variant Annotation ID": 1451226960, - "Variant/Haplotypes": "rs4149056", - "Gene": "SLCO1B1", - "Drug(s)": "simvastatin", - "PMID": 30336686, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "Patients carrying 521TT genotype had greater TC and LDL-C reduction in response to simvastatin after 4 weeks of treatment.", - "Sentence": "Genotype TT is associated with increased response to simvastatin in people with Hypercholesterolemia as compared to genotypes CC + CT.", - "Alleles": "TT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "PD/PK terms": "response to", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Hypercholesterolemia", - "Comparison Allele(s) or Genotype(s)": "CC + CT" - }, - { - "Variant Annotation ID": 1451227020, - "Variant/Haplotypes": "rs2306283", - "Gene": "SLCO1B1", - "Drug(s)": "simvastatin", - "PMID": 30336686, - "Phenotype Category": "Efficacy", - "Significance": "no", - "Notes": "Patients carrying 388G allele alone is not significantly associated with greater TC and LDL-C reduction in response to simvastatin after 4 weeks of treatment. no significant associations were found between the 521T>C and 388A>G polymorphisms and the lipid-lowering effects of simvastatin treatment after 8 weeks.", - "Sentence": "Genotypes AG + GG are not associated with increased response to simvastatin in people with Hypercholesterolemia as compared to genotype AA.", - "Alleles": "AG + GG", - "isPlural": "Are", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "PD/PK terms": "response to", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Hypercholesterolemia", - "Comparison Allele(s) or Genotype(s)": "AA" - } - ], - "var_pheno_ann": [], - "var_fa_ann": [] - }, - "PMC10946077": { - "pmid": 38497131, - "pmcid": "PMC10946077", - "title": "Individual Irinotecan Therapy Under the Guidance of Pre-Treated ", - "study_parameters": { - "Study Parameters ID": 1452426880, - "Variant Annotation ID": 1452426860, - "Study Cases": 110.0, - "Characteristics": "OS for *6", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.703", - "Biogeographical Groups": "Unknown" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1452426860, - "Variant/Haplotypes": "UGT1A1*1, UGT1A1*6, UGT1A1*28", - "Gene": "UGT1A1", - "Drug(s)": "irinotecan", - "PMID": 38497131, - "Phenotype Category": "Efficacy", - "Significance": "no", - "Notes": "\"In this study, we calculated irinotecan dose according to UGT1A1*6 gene polymorphism based on BSA. For patients with GG type, irinotecan was used in full dose. For patients with GA type, irinotecan was used by 20% reduction. For patients with AA type, irinotecan was used by 40% reduction.\" \"Of the 8 patients with UGT1A1*6 AA subtype, 5 had severe toxicity and were subsequently switched to paclitaxel in the following treatment. Three patients received paclitaxel treatment directly.\" \"In the present study, univariable and multivariate analysis revealed no relation between PFS and UGT1A1*6 or UGT1A1*28\"", - "Sentence": "UGT1A1 *6 + *28 is not associated with decreased likelihood of overall survival or progression-free survival when treated with irinotecan in people with Stomach Neoplasms as compared to UGT1A1 *1.", - "Alleles": "*6 + *28", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Overall survival, Efficacy:Progression-free survival", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Stomach Neoplasms", - "Comparison Allele(s) or Genotype(s)": "*1" - }, - { - "Variant Annotation ID": 1452426882, - "Variant/Haplotypes": "UGT1A1*1, UGT1A1*28", - "Gene": "UGT1A1", - "Drug(s)": "irinotecan", - "PMID": 38497131, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Notes": "\"there were no significant differences in diarrhea (p\u2009=\u20090.136), neutropenia (p\u2009=\u20090.991), and leukopenia (p\u2009=\u20090.857) in UGT1A1*28 subgroups.\" \"The frequencies of TA6/TA6, TA6/TA7, TA7/TA7 for UGT1A1*28 and GG, GA, AA genotypes for UGT1A1*6 were 70.9%, 25.5%, 3.6% and 60.9%, 31.8%, 7.3%, respectively (Table 2). Three patients (2.7%) carried double heterozygosity (GA and TA6/TA7). No concurrent homozygous mutations were detected.\"", - "Sentence": "UGT1A1 *28 is not associated with increased severity of Neutropenia, Leukopenia or Diarrhea when treated with irinotecan in people with Stomach Neoplasms as compared to UGT1A1 *1.", - "Alleles": "*28", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "severity of", - "Phenotype": "Side Effect:Neutropenia, Side Effect:Leukopenia, Side Effect:Diarrhea", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Stomach Neoplasms", - "Comparison Allele(s) or Genotype(s)": "*1" - }, - { - "Variant Annotation ID": 1452426961, - "Variant/Haplotypes": "UGT1A1*1, UGT1A1*6", - "Gene": "UGT1A1", - "Drug(s)": "irinotecan", - "PMID": 38497131, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"diarrhea (p\u2009=\u20090.000), neutropenia (p\u2009=\u20090.000), and leukopenia (p\u2009=\u20090.003) were significantly different among UGT1A1*6 subgroups (Table 3). Additionally, grade 3/4 diarrhea, neutropenia, and leukopenia were significantly more common in AA genotype patients compared to GG (2%, 19%, and 24%) or GA (23%, 31%, and 31%) genotype patients, suggesting that that patients with the AA genotype could not tolerate severe toxicity even with reduced doses of irinotecan.diarrhea (p\u2009=\u20090.000), neutropenia (p\u2009=\u20090.000), and leukopenia (p\u2009=\u20090.003) were significantly different among UGT1A1*6 subgroups (Table 3). Additionally, grade 3/4 diarrhea, neutropenia, and leukopenia were significantly more common in AA genotype patients compared to GG (2%, 19%, and 24%) or GA (23%, 31%, and 31%) genotype patients, suggesting that that patients with the AA genotype could not tolerate severe toxicity even with reduced doses of irinotecan.\" \"The frequencies of TA6/TA6, TA6/TA7, TA7/TA7 for UGT1A1*28 and GG, GA, AA genotypes for UGT1A1*6 were 70.9%, 25.5%, 3.6% and 60.9%, 31.8%, 7.3%, respectively (Table 2). Three patients (2.7%) carried double heterozygosity (GA and TA6/TA7). No concurrent homozygous mutations were detected.\"", - "Sentence": "UGT1A1 *6 is associated with increased severity of Neutropenia, Leukopenia or Diarrhea when treated with irinotecan in people with Stomach Neoplasms as compared to UGT1A1 *1.", - "Alleles": "*6", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "severity of", - "Phenotype": "Side Effect:Neutropenia, Side Effect:Leukopenia, Side Effect:Diarrhea", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Stomach Neoplasms", - "Comparison Allele(s) or Genotype(s)": "*1" - } - ], - "var_fa_ann": [] - }, - "PMC11062152": { - "pmid": 38707740, - "pmcid": "PMC11062152", - "title": "Risk Factors for Adverse Events of Nanoliposomal Irinotecan Plus 5-Fluorouracil and L-leucovorin.", - "study_parameters": { - "Study Parameters ID": 1452474677, - "Variant Annotation ID": 1452474670, - "Study Cases": 29.0, - "Characteristics": "diarrhea greater than grade 1 during Nanoliposomal irinotecan + 5-fluorouracil (5-FU) and leucovorin treatment", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.943", - "Biogeographical Groups": "East Asian" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1452474670, - "Variant/Haplotypes": "UGT1A1*1, UGT1A1*6, UGT1A1*28", - "Gene": "UGT1A1", - "Drug(s)": "fluorouracil, irinotecan, leucovorin", - "PMID": 38707740, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Notes": "\"Diarrhea during nal-IRI/FL treatment was observed in seven (24.1%) of 29 patients, who had not been prescribed any antidiarrhea medication at the commencing time of nal-IRI. The rest of seven patients were excluded, since they received loperamide for diarrhea symptoms at the start of therapy. The incidence of grade \u22651 diarrhea in patients with UGT1A1*6 or *28 (\u2013/\u2013), (+/\u2013), and (+/+) were 27.3%, 21.4%, and 25.0%, respectively (Figure 1). Multivariate analysis did not extract any risk factors, which significantly affected the development of diarrhea possibly induced by nal-IRI/FL\"", - "Sentence": "UGT1A1 *6 + *28 is not associated with increased risk of Diarrhea when treated with fluorouracil, irinotecan and leucovorin in people with Pancreatic Neoplasms and Neoplasm Metastasis as compared to UGT1A1 *1/*1.", - "Alleles": "*6 + *28", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Diarrhea", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "and", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Pancreatic Neoplasms, Other:Metastatic neoplasm", - "Multiple phenotypes or diseases And/or": "and", - "Comparison Allele(s) or Genotype(s)": "*1/*1" - }, - { - "Variant Annotation ID": 1452474678, - "Variant/Haplotypes": "UGT1A1*1, UGT1A1*6, UGT1A1*28", - "Gene": "UGT1A1", - "Drug(s)": "fluorouracil, irinotecan, leucovorin", - "PMID": 38707740, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Notes": "\"Grade 3 or 4 leukopenia and neutropenia in the UGT1A1*6 or *28 (+/+) group demonstrated an incidence rate of 50.0%, indicating a higher tendency than those in UGT1A1*6 or *28 (\u2013/\u2013) and (+/\u2013) groups at 7.1% and 12.5%, respectively (p=0.085 for each) (Figure 2C and D). Multiple regression analyses revealed that the UGT1A1*6 or *28 (+/+) genotype, high AST value before the nal-IRI/FL therapy, and pancreatic head cancer were significantly associated with decreased white blood cell count (p=0.009, 0.019, and 0.030, respectively) (Table III), and that of UGT1A1*6 or *28 (+/+) was significantly related to decreased neutrophil count (p=0.017)\"", - "Sentence": "UGT1A1 *6/*6 + *28/*28 + *6/*28 is associated with increased risk of Neutropenia or Leukopenia when treated with fluorouracil, irinotecan and leucovorin in people with Pancreatic Neoplasms and Neoplasm Metastasis as compared to UGT1A1 *1/*1.", - "Alleles": "*6/*6 + *28/*28 + *6/*28", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Neutropenia, Side Effect:Leukopenia", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Multiple drugs And/or": "and", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Pancreatic Neoplasms, Other:Metastatic neoplasm", - "Multiple phenotypes or diseases And/or": "and", - "Comparison Allele(s) or Genotype(s)": "*1/*1" - } - ], - "var_fa_ann": [] - }, - "PMC6465603": { - "pmid": 31024313, - "pmcid": "PMC6465603", - "title": null, - "study_parameters": { - "Study Parameters ID": 1451237470, - "Variant Annotation ID": 1451237464, - "Study Type": "case/control", - "Study Cases": 12.0, - "Study Controls": 137.0, - "Characteristics": "AZA-induced leukopenia in Chinese patients with AIH", - "Characteristics Type": "Study Cohort", - "Frequency In Cases": 0.042, - "Allele Of Frequency In Cases": "C", - "Frequency In Controls": 0.015, - "Allele Of Frequency In Controls": "C", - "P Value": "= 0.283" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1451237464, - "Variant/Haplotypes": "rs1142345", - "Gene": "TPMT", - "Drug(s)": "azathioprine", - "PMID": 31024313, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Notes": "TPMT\u22173C alleles were only observed in four subjects including 3 patients who were heterozygotes (TC) and 1 patient who was homozygous (CC).Authors state in discussion \"the lack of significance observed for rs1142345 in the present study is likely due to its low prevalence in East Asian populations and the small sample size of our cohort.\"", - "Sentence": "Allele C is not associated with increased likelihood of Leukopenia when treated with azathioprine in people with Hepatitis, Autoimmune as compared to allele T.", - "Alleles": "C", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Leukopenia", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Autoimmune hepatitis", - "Comparison Allele(s) or Genotype(s)": "T" - }, - { - "Variant Annotation ID": 1451237500, - "Variant/Haplotypes": "rs116855232", - "Gene": "NUDT15", - "Drug(s)": "azathioprine", - "PMID": 31024313, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Sentence": "Genotypes CT + TT is associated with increased likelihood of Leukopenia when treated with azathioprine in people with Hepatitis, Autoimmune as compared to genotype CC.", - "Alleles": "CT + TT", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Leukopenia", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Autoimmune hepatitis", - "Comparison Allele(s) or Genotype(s)": "CC" - } - ], - "var_fa_ann": [] - }, - "PMC8973308": { - "pmid": 35431360, - "pmcid": "PMC8973308", - "title": "Susceptibility to thiopurine toxicity by ", - "study_parameters": { - "Study Parameters ID": 1451768400, - "Variant Annotation ID": 1451768380, - "Study Type": "cohort", - "Study Cases": 68.0, - "Characteristics": "Pediatric ALL", - "Characteristics Type": "Study Cohort", - "Biogeographical Groups": "Latino" - }, - "var_drug_ann": [ - { - "Variant Annotation ID": 1451768380, - "Variant/Haplotypes": "rs116855232", - "Gene": "NUDT15", - "Drug(s)": "mercaptopurine", - "PMID": 35431360, - "Phenotype Category": "Dosage", - "Significance": "no", - "Notes": "Authors stated \"Although no statistically significant associations were identified, two of the four patients; heterozygous for NUDT15 required a decrease in 6-MP during the follow-up period. \" No TT homozygotes were observed. \"Studies with a larger population size are needed\"", - "Sentence": "Genotype CT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.", - "Alleles": "CT", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "PD/PK terms": "dose of", - "Population types": "in children with", - "Population Phenotypes or diseases": "Other:Acute lymphoblastic leukemia", - "Comparison Allele(s) or Genotype(s)": "CC" - }, - { - "Variant Annotation ID": 1451769040, - "Variant/Haplotypes": "rs1800460", - "Gene": "TPMT", - "Drug(s)": "mercaptopurine", - "PMID": 35431360, - "Phenotype Category": "Dosage", - "Significance": "no", - "Notes": "Authors stated \"Although no statistically significant associations were identified... In the case of rs1800460, of the six heterozygous patients, three required a dosage decrease, and two were also heterozygous for rs1142345.\" No TT homozygotes were observed. \"Studies with a larger population size are needed\"", - "Sentence": "Genotype CT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.", - "Alleles": "CT", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "PD/PK terms": "dose of", - "Population types": "in children with", - "Population Phenotypes or diseases": "Other:Acute lymphoblastic leukemia", - "Comparison Allele(s) or Genotype(s)": "CC" - } - ], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1451769000, - "Variant/Haplotypes": "rs1800462", - "Gene": "TPMT", - "Drug(s)": "mercaptopurine", - "PMID": 35431360, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Notes": "Authors stated \"Although no statistically significant associations were identified, ...Concerning the genetic variants of TPMT, for rs1800462, two of the four heterozygous patients presented febrile neutropenia, and the same patients also required discontinuation 6-MP during the first six months of maintenance therapy.\" No GG homozygotes were observed. \"Studies with a larger population size are needed\"", - "Sentence": "Genotype CG is associated with decreased likelihood of febrile neutropenia and discontinuation when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.", - "Alleles": "CG", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Febrile neutropenia, Side Effect:Discontinuation", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in children with", - "Population Phenotypes or diseases": "Other:Acute lymphoblastic leukemia", - "Comparison Allele(s) or Genotype(s)": "CC" - } - ], - "var_fa_ann": [] - }, - "PMC12035587": { - "pmid": 40099566, - "pmcid": "PMC12035587", - "title": "Severe myelosuppression and alopecia after thiopurine initiation in a patient with NUDT15 deficiency.", - "study_parameters": { - "Study Parameters ID": 1453076188, - "Variant Annotation ID": 1453076180, - "Study Type": "case series", - "Study Cases": 0.0, - "Characteristics": "41-year-old South Asian female, severe mercaptopurine toxicity secondary to an inherited NUDT15 protein deficiency, resulting in myelosuppression, hepatotoxicity and alopecia.", - "Characteristics Type": "Study Cohort", - "Biogeographical Groups": "Central/South Asian" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1453076180, - "Variant/Haplotypes": "NUDT15*3", - "Gene": "NUDT15", - "Drug(s)": "mercaptopurine", - "PMID": 40099566, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Notes": "\"case of thiopurine toxicity resulting in severe myelosuppression, hepatotoxicity and alopecia in an individual with homozygous *3/*3 loss-of-function alleles in the NUDT15 gene\"", - "Sentence": "NUDT15 *3/*3 is associated with increased severity of Myelosuppression, Toxic liver disease and Alopecia when treated with mercaptopurine in women with Leukemia, Promyelocytic, Acute.", - "Alleles": "*3/*3", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "severity of", - "Phenotype": "Side Effect:Myelosuppression, Side Effect:Toxic liver disease, Side Effect:Alopecia", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in women with", - "Population Phenotypes or diseases": "Other:Leukemia, Promyelocytic, Acute" - } - ], - "var_fa_ann": [] - }, - "PMC5561238": { - "pmid": 28819312, - "pmcid": "PMC5561238", - "title": "Shared peptide binding of HLA Class I and II alleles associate with cutaneous nevirapine hypersensitivity and identify novel risk alleles.", - "study_parameters": { - "Study Parameters ID": 1448926057, - "Variant Annotation ID": 1448926055, - "Study Type": "case/control", - "Study Cases": 151.0, - "Study Controls": 413.0, - "Characteristics": "NCT00310843)", - "Characteristics Type": "Study Cohort", - "Ratio Stat Type": "OR", - "Ratio Stat": 2.32, - "Confidence Interval Start": 1.42, - "Confidence Interval Stop": 3.79, - "Biogeographical Groups": "Multiple groups" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1448926055, - "Variant/Haplotypes": "HLA-B*67:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-N*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *67:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*67:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926065, - "Variant/Haplotypes": "HLA-B*78:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-N*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *78:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*78:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925992, - "Variant/Haplotypes": "HLA-B*51:02", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-N*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *51:02 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*51:02", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926045, - "Variant/Haplotypes": "HLA-B*56:06", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-N*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *56:06 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*56:06", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926109, - "Variant/Haplotypes": "HLA-B*39:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles which the authors do not distinguish between and is why the OR is the same for the following: HLA-B*13:02, HLA-B*38:01/02, HLA-B*39:01/05/06/09, HLA-B*51:07.", - "Sentence": "HLA-B *39:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*39:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925913, - "Variant/Haplotypes": "HLA-C*05:09", - "Gene": "HLA-C", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Primary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-C alleles that share a common \"binding groove F pocket\" with HLA-C*04:01. The authors do not distinguish between the following HLA-C alleles, which is why the OR is the same: HLA-C*04:03/06/07, HLA-C*05:01/09, HLA-C*18:0.", - "Sentence": "HLA-C *05:09 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*05:09", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926229, - "Variant/Haplotypes": "HLA-B*15:32", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk protection to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-B*15:01/12/24/25/27/32/35, HLA-B*52:01", - "Sentence": "HLA-B *15:32 is associated with decreased risk of Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*15:32", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925903, - "Variant/Haplotypes": "HLA-C*05:01", - "Gene": "HLA-C", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Primary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-C alleles that share a common \"binding groove F pocket\" with HLA-C*04:01. The authors do not distinguish between the following HLA-C alleles, which is why the OR is the same: HLA-C*04:03/06/07, HLA-C*05:01/09, HLA-C*18:0.", - "Sentence": "HLA-C *05:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*05:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925982, - "Variant/Haplotypes": "HLA-B*51:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-N*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *51:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*51:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926239, - "Variant/Haplotypes": "HLA-B*15:35", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk protection to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-B*15:01/12/24/25/27/32/35, HLA-B*52:01", - "Sentence": "HLA-B *15:35 is associated with decreased risk of Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*15:35", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926169, - "Variant/Haplotypes": "HLA-B*15:12", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk protection to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-B*15:01/12/24/25/27/32/35, HLA-B*52:01", - "Sentence": "HLA-B *15:12 is associated with decreased risk of Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*15:12", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926299, - "Variant/Haplotypes": "HLA-DRB1*08:01", - "Gene": "HLA-DRB1", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk of severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-DRB1*01:01/02/03, HLA-DRB1*04:04/05/08/10", - "Sentence": "HLA-DRB1 *08:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*08:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925972, - "Variant/Haplotypes": "HLA-B*39:10", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-N*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *39:10 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*39:10", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926099, - "Variant/Haplotypes": "HLA-B*38:02", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles which the authors do not distinguish between and is why the OR is the same for the following: HLA-B*13:02, HLA-B*38:01/02, HLA-B*39:01/05/06/09, HLA-B*51:07.", - "Sentence": "HLA-B *38:02 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*38:02", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926089, - "Variant/Haplotypes": "HLA-B*38:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles which the authors do not distinguish between and is why the OR is the same for the following: HLA-B*13:02, HLA-B*38:01/02, HLA-B*39:01/05/06/09, HLA-B*51:07.", - "Sentence": "HLA-B *38:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*38:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926289, - "Variant/Haplotypes": "HLA-DRB1*04:04", - "Gene": "HLA-DRB1", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk of severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-DRB1*01:01/02/03, HLA-DRB1*04:04/05/08/10", - "Sentence": "HLA-DRB1 *04:04 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*04:04", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926035, - "Variant/Haplotypes": "HLA-B*56:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-N*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *56:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*56:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925958, - "Variant/Haplotypes": "HLA-B*35:05", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-B*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *35:05 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*35:05", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926269, - "Variant/Haplotypes": "HLA-DRB1*01:02", - "Gene": "HLA-DRB1", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk of severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-DRB1*01:01/02/03, HLA-DRB1*04:04/05/08/10", - "Sentence": "HLA-DRB1 *01:02 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*01:02", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926139, - "Variant/Haplotypes": "HLA-B*39:09", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles which the authors do not distinguish between and is why the OR is the same for the following: HLA-B*13:02, HLA-B*38:01/02, HLA-B*39:01/05/06/09, HLA-B*51:07.", - "Sentence": "HLA-B *39:09 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*39:09", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926159, - "Variant/Haplotypes": "HLA-B*15:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk protection to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-B*15:01/12/24/25/27/32/35, HLA-B*52:01", - "Sentence": "HLA-B *15:01 is associated with decreased risk of Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*15:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926209, - "Variant/Haplotypes": "HLA-B*15:27", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk protection to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-B*15:01/12/24/25/27/32/35, HLA-B*52:01", - "Sentence": "HLA-B *15:27 is associated with decreased risk of Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*15:27", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448998275, - "Variant/Haplotypes": "HLA-B*35:10", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-B*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *35:10 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Severe Cutaneous Adverse Reactions and Drug Reaction with Eosinophilia and Systemic Symptoms when treated with nevirapine in people with HIV Infections.", - "Alleles": "*35:10", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925883, - "Variant/Haplotypes": "HLA-C*04:06", - "Gene": "HLA-C", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Primary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-C alleles that share a common \"binding groove F pocket\" with HLA-C*04:01. The authors do not distinguish between the following HLA-C alleles, which is why the OR is the same: HLA-C*04:03/06/07, HLA-C*05:01/09, HLA-C*18:0.", - "Sentence": "HLA-C *04:06 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*04:06", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926149, - "Variant/Haplotypes": "HLA-B*57:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles which the authors do not distinguish between and is why the OR is the same for the following: HLA-B*13:02, HLA-B*38:01/02, HLA-B*39:01/05/06/09, HLA-B*51:07.", - "Sentence": "HLA-B *57:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*57:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925893, - "Variant/Haplotypes": "HLA-C*04:07", - "Gene": "HLA-C", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Primary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-C alleles that share a common \"binding groove F pocket\" with HLA-C*04:01. The authors do not distinguish between the following HLA-C alleles, which is why the OR is the same: HLA-C*04:03/06/07, HLA-C*05:01/09, HLA-C*18:0.", - "Sentence": "HLA-C *04:07 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Severe Cutaneous Adverse Reactions or Drug Reaction with Eosinophilia and Systemic Symptoms when treated with nevirapine in people with HIV Infections.", - "Alleles": "*04:07", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926022, - "Variant/Haplotypes": "HLA-B*55:02", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-N*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *55:02 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*55:02", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926279, - "Variant/Haplotypes": "HLA-DRB1*01:03", - "Gene": "HLA-DRB1", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk of severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-DRB1*01:01/02/03, HLA-DRB1*04:04/05/08/10", - "Sentence": "HLA-DRB1 *01:03 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*01:03", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926012, - "Variant/Haplotypes": "HLA-B*55:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-N*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *55:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*55:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926075, - "Variant/Haplotypes": "HLA-B*13:02", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles which the authors do not distinguish between and is why the OR is the same for the following: HLA-B*13:02, HLA-B*38:01/02, HLA-B*39:01/05/06/09, HLA-B*51:07.", - "Sentence": "HLA-B *13:02 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*13:02", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926199, - "Variant/Haplotypes": "HLA-B*15:25", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk protection to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-B*15:01/12/24/25/27/32/35, HLA-B*52:01", - "Sentence": "HLA-B *15:25 is associated with decreased risk of Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*15:25", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926129, - "Variant/Haplotypes": "HLA-B*39:06", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles which the authors do not distinguish between and is why the OR is the same for the following: HLA-B*13:02, HLA-B*38:01/02, HLA-B*39:01/05/06/09, HLA-B*51:07.", - "Sentence": "HLA-B *39:06 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*39:06", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925873, - "Variant/Haplotypes": "HLA-C*04:03", - "Gene": "HLA-C", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Primary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-C alleles that share a common \"binding groove F pocket\" with HLA-C*04:01. The authors do not distinguish between the following HLA-C alleles, which is why the OR is the same: HLA-C*04:03/06/07, HLA-C*05:01/09, HLA-C*18:0.", - "Sentence": "HLA-C *04:03 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*04:03", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926002, - "Variant/Haplotypes": "HLA-B*54:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles that share a common \"E pocket sequence\". The authors do not distinguish between the following HLA-B alleles, which is why the OR is the same: HLA-N*35:05, HLA-B*39:10, HLA-B*51:01/02, HLA-B*54:01, HLA-B*55:01/02, HLA-B*56:01/06, HLA-B*67:01, HLA-B*78:01.", - "Sentence": "HLA-B *54:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*54:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926259, - "Variant/Haplotypes": "HLA-DRB1*01:01", - "Gene": "HLA-DRB1", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk of severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-DRB1*01:01/02/03, HLA-DRB1*04:04/05/08/10", - "Sentence": "HLA-DRB1 *01:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*01:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926249, - "Variant/Haplotypes": "HLA-B*52:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk protection to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-B*15:01/12/24/25/27/32/35, HLA-B*52:01", - "Sentence": "HLA-B *52:01 is associated with decreased risk of Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Severe Cutaneous Adverse Reactions or Drug Reaction with Eosinophilia and Systemic Symptoms when treated with nevirapine in people with HIV Infections.", - "Alleles": "*52:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926309, - "Variant/Haplotypes": "HLA-DRB1*10:01", - "Gene": "HLA-DRB1", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk of severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-DRB1*01:01/02/03, HLA-DRB1*04:04/05/08/10", - "Sentence": "HLA-DRB1 *10:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms and Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*10:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925862, - "Variant/Haplotypes": "HLA-C*04:01", - "Gene": "HLA-C", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "In one allele logistic regression analyses HLA-C*04:01 was the only allele for which an association with cutaneous manifestations of nevirapine related hypersensitivity was observed across all ancestral groups.", - "Sentence": "HLA-C *04:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*04:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926119, - "Variant/Haplotypes": "HLA-B*39:05", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-B alleles which the authors do not distinguish between and is why the OR is the same for the following: HLA-B*13:02, HLA-B*38:01/02, HLA-B*39:01/05/06/09, HLA-B*51:07.", - "Sentence": "HLA-B *39:05 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*39:05", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448925923, - "Variant/Haplotypes": "HLA-C*18:01", - "Gene": "HLA-C", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Primary predisposition to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine is attributed to a cluster of HLA-C alleles that share a common \"binding groove F pocket\" with HLA-C*04:01. The authors do not distinguish between the following HLA-C alleles, which is why the OR is the same: HLA-C*04:03/06/07, HLA-C*05:01/09, HLA-C*18:0.", - "Sentence": "HLA-C *18:01 is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*18:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1448926179, - "Variant/Haplotypes": "HLA-B*15:24", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "Secondary risk protection to severe adverse cutaneous reactions/hypersensitivity (SACR/H) to nevirapine are attributed to several alleles and does not distinguish between them which is why ORs are the same: HLA-B*15:01/12/24/25/27/32/35, HLA-B*52:01", - "Sentence": "HLA-B *15:24 is associated with decreased risk of Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms or Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections.", - "Alleles": "*15:24", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1449155757, - "Variant/Haplotypes": "rs28399499", - "Gene": "CYP2B6", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "The authors analyze rs28399499 T>C and rs3745274 G>A/T together as \"slow metabolizer\" genotypes.", - "Sentence": "Allele C is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms and Severe Cutaneous Adverse Reactions when treated with nevirapine in people with HIV Infections as compared to allele T.", - "Alleles": "C", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms, Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "T" - }, - { - "Variant Annotation ID": 1449155771, - "Variant/Haplotypes": "rs3745274", - "Gene": "CYP2B6", - "Drug(s)": "nevirapine", - "PMID": 28819312, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "The authors analyze rs28399499 T>C and rs3745274 G>A/T together as \"slow metabolizer\" genotypes.", - "Sentence": "Allele T is associated with Epidermal Necrolysis, Toxic, Stevens-Johnson Syndrome and Drug Reaction with Eosinophilia and Systemic Symptoms when treated with nevirapine in people with HIV Infections as compared to allele G.", - "Alleles": "T", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Toxic Epidermal Necrolysis, Side Effect:Stevens-Johnson Syndrome, Side Effect:Drug Reaction with Eosinophilia and Systemic Symptoms", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease", - "Comparison Allele(s) or Genotype(s)": "G" - } - ], - "var_fa_ann": [] - }, - "PMC3839910": { - "pmid": 23588310, - "pmcid": "PMC3839910", - "title": "HLA-A 31:01 and HLA-B 15:02 as genetic markers for carbamazepine hypersensitivity in children.", - "study_parameters": { - "Study Parameters ID": 994166721, - "Variant Annotation ID": 994166507, - "Study Type": "case/control", - "Study Cases": 42.0, - "Study Controls": 91.0, - "Characteristics": "pediatric patients from North America with a diverse ethnic background, 42 children with CBZ hypersensitivity and 91 CBZ-tolerant children from across Canada.", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.002", - "Ratio Stat Type": "OR", - "Ratio Stat": 38.6, - "Biogeographical Groups": "Multiple groups" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 994166507, - "Variant/Haplotypes": "HLA-B*15:02", - "Gene": "HLA-B", - "Drug(s)": "carbamazepine", - "PMID": 23588310, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Sentence": "HLA-B *15:02 is associated with increased risk of Stevens-Johnson Syndrome when treated with carbamazepine in children.", - "Alleles": "*15:02", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Disease:Stevens-Johnson Syndrome", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in children" - }, - { - "Variant Annotation ID": 994531642, - "Variant/Haplotypes": "HLA-B*15:02", - "Gene": "HLA-B", - "Drug(s)": "carbamazepine", - "PMID": 23588310, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Sentence": "HLA-B *15:02 is not associated with increased risk of Maculopapular Exanthema when treated with carbamazepine in children.", - "Alleles": "*15:02", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Disease:Maculopapular Exanthema", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in children" - }, - { - "Variant Annotation ID": 993944301, - "Variant/Haplotypes": "HLA-A*31:01", - "Gene": "HLA-A", - "Drug(s)": "carbamazepine", - "PMID": 23588310, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Sentence": "HLA-A *31:01 is not associated with increased risk of Stevens-Johnson Syndrome when treated with carbamazepine in children.", - "Alleles": "*31:01", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Disease:Stevens-Johnson Syndrome", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in children" - }, - { - "Variant Annotation ID": 993813998, - "Variant/Haplotypes": "HLA-A*31:01", - "Gene": "HLA-A", - "Drug(s)": "carbamazepine", - "PMID": 23588310, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Sentence": "HLA-A *31:01 is associated with increased risk of Maculopapular Exanthema when treated with carbamazepine in children.", - "Alleles": "*31:01", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Disease:Maculopapular Exanthema", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in children" - }, - { - "Variant Annotation ID": 992282434, - "Variant/Haplotypes": "HLA-A*31:01", - "Gene": "HLA-A", - "Drug(s)": "carbamazepine", - "PMID": 23588310, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Sentence": "HLA-A *31:01 is associated with increased risk of Carbamazepine-induced hypersensitivity syndrome when treated with carbamazepine in children.", - "Alleles": "*31:01", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Carbamazepine-induced hypersensitivity syndrome", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in children" - }, - { - "Variant Annotation ID": 994398056, - "Variant/Haplotypes": "HLA-B*15:02", - "Gene": "HLA-B", - "Drug(s)": "carbamazepine", - "PMID": 23588310, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Sentence": "HLA-B *15:02 is not associated with increased risk of Carbamazepine-induced hypersensitivity syndrome (HSS) when treated with carbamazepine in children.", - "Alleles": "*15:02", - "Specialty Population": "Pediatric", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Carbamazepine-induced hypersensitivity syndrome (HSS)", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in children" - } - ], - "var_fa_ann": [] - }, - "PMC384715": { - "pmid": 15024131, - "pmcid": "PMC384715", - "title": "Predisposition to abacavir hypersensitivity conferred by HLA-B*5701 and a haplotypic Hsp70-Hom variant.", - "study_parameters": { - "Study Parameters ID": 1444877110, - "Variant Annotation ID": 1444876870, - "Study Type": "case/control", - "Study Cases": 18.0, - "Study Controls": 230.0, - "Characteristics": "Western Australian HIV Cohort Study; HLA-B*57:01 in combination with rs2227956.", - "Characteristics Type": "Study Cohort", - "Frequency In Cases": 0.944, - "Allele Of Frequency In Cases": "*57:01", - "Frequency In Controls": 0.004, - "Allele Of Frequency In Controls": "*57:01", - "P Value": "< 0.00001", - "Ratio Stat Type": "OR", - "Ratio Stat": 3893.0, - "Biogeographical Groups": "Multiple groups, European, Asian Indian, African, indigenous Australian, Asian" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1444876870, - "Variant/Haplotypes": "HLA-B*57:01", - "Gene": "HLA-B", - "Drug(s)": "abacavir", - "PMID": 15024131, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "The HLA-B*57:01 allele was present in 94.4% of cases of definite abacavir hypersensitivity compared with 1.7% of abacavir-tolerant controls. When in combination with the rs2227956 T allele (Hsp70-Hom M493T), the strength of the association increased, with this combination being present in 94.4% of cases of abacavir hypersensitivity, compared with 0.43% of controls.", - "Sentence": "HLA-B *57:01 is associated with increased risk of Drug Hypersensitivity when treated with abacavir in people with HIV Infections.", - "Alleles": "*57:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Drug Hypersensitivity", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - } - ], - "var_fa_ann": [] - }, - "PMC3113609": { - "pmid": 21428769, - "pmcid": "PMC3113609", - "title": "HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.", - "study_parameters": { - "Study Parameters ID": 1184466924, - "Variant Annotation ID": 1184466922, - "Study Type": "case/control", - "Study Cases": 12.0, - "Study Controls": 257.0, - "Characteristics Type": "Unknown", - "P Value": "= 8.0E-5", - "Ratio Stat Type": "OR", - "Ratio Stat": 25.93, - "Confidence Interval Start": 4.93, - "Confidence Interval Stop": 116.18, - "Biogeographical Groups": "European" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1184466922, - "Variant/Haplotypes": "HLA-A*31:01", - "Gene": "HLA-A", - "Drug(s)": "carbamazepine", - "PMID": 21428769, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "Severe cutaneous adverse reactions included Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN). 42% (5/9) of subjects with carbamazepine-induced SJS/TEN carried the *31:01 allele, as compared to 4% (10/257) of carbamazepine-tolerant controls.", - "Sentence": "HLA-A *31:01 is associated with increased risk of severe cutaneous adverse reactions when treated with carbamazepine.", - "Alleles": "*31:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Disease:Severe Cutaneous Adverse Reactions", - "When treated with/exposed to/when assayed with": "when treated with" - }, - { - "Variant Annotation ID": 1184466916, - "Variant/Haplotypes": "HLA-A*31:01", - "Gene": "HLA-A", - "Drug(s)": "carbamazepine", - "PMID": 21428769, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "Patients with carbamazepine-induced maculopapular exanthema had an increased frequency of *31:01, as compared to carbamazepine-tolerant controls.", - "Sentence": "HLA-A *31:01 is associated with increased risk of Maculopapular Exanthema when treated with carbamazepine.", - "Alleles": "*31:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Disease:Maculopapular Exanthema", - "When treated with/exposed to/when assayed with": "when treated with" - }, - { - "Variant Annotation ID": 1184466909, - "Variant/Haplotypes": "HLA-A*31:01", - "Gene": "HLA-A", - "Drug(s)": "carbamazepine", - "PMID": 21428769, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "Hypersensitivity syndrome defined as the presence of a rash or liver involvement within 3 months after initiation of carbamazepine treatment, along with a minimum of two of the following manifestations: prolonged recovery phase despite drug withdrawal, fever, involvement of other internal organs, or presence of hematologic abnormalities. Patients who experienced carbamazepine-induced hypersensitivity syndrome had an increased frequency of *31:01, as compared to carbamazepine-tolerant controls.", - "Sentence": "HLA-A *31:01 is associated with increased risk of Drug Hypersensitivity when treated with carbamazepine.", - "Alleles": "*31:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Disease:Drug Hypersensitivity", - "When treated with/exposed to/when assayed with": "when treated with" - } - ], - "var_fa_ann": [] - }, - "PMC554812": { - "pmid": 15743917, - "pmcid": "PMC554812", - "title": "HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.", - "study_parameters": { - "Study Parameters ID": 1184755119, - "Variant Annotation ID": 981345654, - "Study Type": "case/control", - "Study Cases": 51.0, - "Study Controls": 135.0, - "Characteristics": "Cases n= 51, controls = 135 tolerant to allopurinol. Statistics and allele frequencies here are for the HLA-B*5801 extended haplotype: B*5801-C*0302-A*3303-DRB1*0301.", - "Characteristics Type": "Study Cohort", - "Frequency In Cases": 0.41, - "Allele Of Frequency In Cases": "*58:01", - "Frequency In Controls": 0.07, - "Allele Of Frequency In Controls": "*58:01", - "P Value": "= 0.039", - "Ratio Stat Type": "OR", - "Ratio Stat": 9.8, - "Biogeographical Groups": "East Asian" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 981345654, - "Variant/Haplotypes": "HLA-B*58:01", - "Gene": "HLA-B", - "Drug(s)": "allopurinol", - "PMID": 15743917, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "Note: Alleles HLA-A*3303, HLA-C*0302, HLA-DRB1*0301 were also significantly associated with increased risk, but were in LD and formed an extended haplotype with HLA-B*5801. Chronic renal insufficiency was seen at a significantly higher frequency in patients with allopurinol-induced SCAR compared to allopurinol-tolerant patients p<0.0001 (OR=4.7 (2.3-9.3)).", - "Sentence": "HLA-B *58:01 is associated with increased risk of severe cutaneous adverse reactions when treated with allopurinol.", - "Alleles": "*58:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with" - }, - { - "Variant Annotation ID": 1184755073, - "Variant/Haplotypes": "HLA-DRB1*03:01", - "Gene": "HLA-DRB1", - "Drug(s)": "allopurinol", - "PMID": 15743917, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "Note: Alleles HLA-A*3303, HLA-C*0302, HLA-DRB1*0301 were in LD and formed an extended haplotype with HLA-B*5801. Chronic renal insufficiency was seen at a significantly higher frequency in patients with allopurinol-induced SCAR compared to allopurinol-tolerant patients p<0.0001 (OR=4.7 (2.3-9.3)).", - "Sentence": "HLA-DRB1 *03:01 is associated with increased risk of severe cutaneous adverse reactions when treated with allopurinol.", - "Alleles": "*03:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with" - }, - { - "Variant Annotation ID": 1184755032, - "Variant/Haplotypes": "HLA-C*03:02", - "Gene": "HLA-C", - "Drug(s)": "allopurinol", - "PMID": 15743917, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "Note: Alleles HLA-A*3303, HLA-C*0302, HLA-DRB1*0301 were in LD and formed an extended haplotype with HLA-B*5801. Chronic renal insufficiency was seen at a significantly higher frequency in patients with allopurinol-induced SCAR compared to allopurinol-tolerant patients p<0.0001 (OR=4.7 (2.3-9.3)).", - "Sentence": "HLA-C *03:02 is associated with increased risk of severe cutaneous adverse reactions when treated with allopurinol.", - "Alleles": "*03:02", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with" - }, - { - "Variant Annotation ID": 1184755056, - "Variant/Haplotypes": "HLA-A*33:03", - "Gene": "HLA-A", - "Drug(s)": "allopurinol", - "PMID": 15743917, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "Note: Alleles HLA-A*3303, HLA-C*0302, HLA-DRB1*0301 were in LD and formed an extended haplotype with HLA-B*5801. Chronic renal insufficiency was seen at a significantly higher frequency in patients with allopurinol-induced SCAR compared to allopurinol-tolerant patients p<0.0001 (OR=4.7 (2.3-9.3)).", - "Sentence": "HLA-A *33:03 is associated with increased risk of severe cutaneous adverse reactions when treated with allopurinol.", - "Alleles": "*33:03", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with" - }, - { - "Variant Annotation ID": 1184755144, - "Variant/Haplotypes": "rs1594", - "Gene": "CFLAR", - "Drug(s)": "allopurinol", - "PMID": 15743917, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "An initial screen of 823 SNPs in the MHC region or in genes related to drug metabolism and immune response for association with allopurinol-induced SCAR. The direction of the association (i.e. which allele was associated with increased risk of SCARs and which allele was associated with decreased risk) was not clear. Unclear whether this was corrected for multiple comparisons or not.", - "Sentence": "Allele A is associated with severe cutaneous adverse reactions when treated with allopurinol as compared to allele G.", - "Alleles": "A", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Phenotype": "Side Effect:Severe Cutaneous Adverse Reactions", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Comparison Allele(s) or Genotype(s)": "G" - } - ], - "var_fa_ann": [] - }, - "PMC3387531": { - "pmid": 21505298, - "pmcid": "PMC3387531", - "title": "Toxicogenomics of nevirapine-associated cutaneous and hepatic adverse events among populations of African, Asian, and European descent.", - "study_parameters": { - "Study Parameters ID": 1185002093, - "Variant Annotation ID": 1185002091, - "Study Type": "case/control", - "Study Cases": 52.0, - "Study Controls": 173.0, - "Characteristics": "Severe cutaneous toxicity - grade III or IV on NIAID Division of AIDS criteria.", - "Characteristics Type": "Disease", - "Frequency In Cases": 0.192, - "Allele Of Frequency In Cases": "*35:01", - "Frequency In Controls": 0.043, - "Allele Of Frequency In Controls": "*35:01", - "P Value": "= 0.022", - "Ratio Stat Type": "OR", - "Ratio Stat": 5.65, - "Confidence Interval Start": 2.03, - "Confidence Interval Stop": 15.71, - "Biogeographical Groups": "East Asian" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1185002091, - "Variant/Haplotypes": "HLA-B*35:01", - "Gene": "HLA-B", - "Drug(s)": "nevirapine", - "PMID": 21505298, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "The frequency of the HLA-B*35 allele was greater in those with nevirapine-related hepatic adverse events as compared to healthy controls when considering a Thai population. No significant results were seen for Asians (non-Thai), Blacks or Whites (p corrected = 0.053, 1.0, 1.0, respectively). Note that this annotation was done on HLA-B*35:01:01:01 because this was the first *35 allele discovered. p-value corrected for multiple testing.", - "Sentence": "HLA-B *35:01 is associated with increased risk of Drug Toxicity when treated with nevirapine in people with HIV Infections.", - "Alleles": "*35:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Drug Toxicity", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1185002083, - "Variant/Haplotypes": "HLA-DRB1*01:01", - "Gene": "HLA-DRB1", - "Drug(s)": "nevirapine", - "PMID": 21505298, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "The frequency of the HLA-DRB1*01 allele was greater in those with nevirapine-related hepatic adverse events as compared to healthy controls when considering a White population. No significant results were seen for Asians or Blacks. Note that this annotation was done on HLA-DRB1*01:01:01 because this was the first *01 allele discovered. p-value corrected for multiple testing.", - "Sentence": "HLA-DRB1 *01:01 is associated with increased risk of Drug Toxicity when treated with nevirapine in people with HIV Infections.", - "Alleles": "*01:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Drug Toxicity", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1185002071, - "Variant/Haplotypes": "HLA-C*04:01", - "Gene": "HLA-C", - "Drug(s)": "nevirapine", - "PMID": 21505298, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "The frequency of the HLA-Cw*04 allele was greater in those with nevirapine-related cutaneous adverse events as compared to healthy controls. Note that this annotation was done on HLA-C*04:01:01:01 because this was the first *04 allele discovered. p-value corrected for multiple testing.", - "Sentence": "HLA-C *04:01 is associated with increased risk of Drug Toxicity when treated with nevirapine in people with HIV Infections.", - "Alleles": "*04:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Drug Toxicity", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1185002120, - "Variant/Haplotypes": "rs3745274", - "Gene": "CYP2B6", - "Drug(s)": "nevirapine", - "PMID": 21505298, - "Phenotype Category": "Toxicity", - "Significance": "no", - "Notes": "The frequency of the T allele was greater in those with nevirapine-related cutaneous adverse events as compared to healthy controls (p=5.5 x 10^-5). However, this association was not significant after correction for multiple testing. This SNP was in LD with rs3876547 and rs2054675 (r2 > 0.90). This SNP was not associated with hepatic adverse events after correcting for multiple comparisons.", - "Sentence": "Allele T is associated with increased risk of Drug Toxicity when treated with nevirapine in people with HIV Infections.", - "Alleles": "T", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Drug Toxicity", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1185002099, - "Variant/Haplotypes": "rs2054675", - "Gene": "CYP2B6", - "Drug(s)": "nevirapine", - "PMID": 21505298, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "The frequency of the C allele was greater in those with nevirapine-related cutaneous adverse events as compared to healthy controls. This SNP was in LD with rs3876547 (r2 = 0.982) and rs3745274 (r2 > 0.90). p-value corrected for multiple testing. This SNP was not associated with hepatic adverse events after correcting for multiple comparisons.", - "Sentence": "Allele C is associated with increased risk of Drug Toxicity when treated with nevirapine in people with HIV Infections.", - "Alleles": "C", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Drug Toxicity", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - }, - { - "Variant Annotation ID": 1185002114, - "Variant/Haplotypes": "rs3786547", - "Gene": "CYP2B6", - "Drug(s)": "nevirapine", - "PMID": 21505298, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "The frequency of the C allele was greater in those with nevirapine-related cutaneous adverse events as compared to healthy controls. This SNP was in LD with rs2054674 (r2 = 0.982) and rs3745274 (r2 > 0.90). p-value corrected for multiple testing. This SNP was not associated with hepatic adverse events after correcting for multiple comparisons.", - "Sentence": "Allele C is associated with increased risk of Drug Toxicity when treated with nevirapine in people with HIV Infections.", - "Alleles": "C", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Drug Toxicity", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Disease:HIV infectious disease" - } - ], - "var_fa_ann": [] - }, - "PMC8790808": { - "pmid": 33768542, - "pmcid": "PMC8790808", - "title": "Class II Human Leukocyte Antigen Variants Associate With Risk of Pegaspargase Hypersensitivity.", - "study_parameters": { - "Study Parameters ID": 1451510741, - "Variant Annotation ID": 1451510720, - "Study Type": "cohort", - "Study Cases": 402.0, - "Characteristics": "TXVI cohort", - "Characteristics Type": "Study Cohort", - "P Value": "= 3.28e-5", - "Ratio Stat Type": "OR", - "Ratio Stat": 2.91, - "Biogeographical Groups": "European" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1451510720, - "Variant/Haplotypes": "HLA-DQA1*02:01", - "Gene": "HLA-DQA1", - "Drug(s)": "pegaspargase", - "PMID": 33768542, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "HLA alleles DQB1*02:02, DRB1*07:01, and DQA1*02:01 had significant associations with pegaspargase hypersensitivity (P < 5.0 \u00d7 10-5 ) in patients with primarily European ancestry (EA), with the three alleles associating in a single haplotype.", - "Sentence": "HLA-DQA1 *02:01 is associated with increased risk of Hypersensitivity when treated with pegaspargase.", - "Alleles": "*02:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Hypersensitivity", - "When treated with/exposed to/when assayed with": "when treated with" - }, - { - "Variant Annotation ID": 1451510886, - "Variant/Haplotypes": "HLA-DQB1*02:02", - "Gene": "HLA-DQB1", - "Drug(s)": "pegaspargase", - "PMID": 33768542, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "HLA alleles DQB1*02:02, DRB1*07:01, and DQA1*02:01 had significant associations with pegaspargase hypersensitivity (P < 5.0 \u00d7 10-5 ) in patients with primarily European ancestry (EA), with the three alleles associating in a single haplotype.", - "Sentence": "HLA-DQB1 *02:02 is associated with increased risk of Hypersensitivity when treated with pegaspargase.", - "Alleles": "*02:02", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Hypersensitivity", - "When treated with/exposed to/when assayed with": "when treated with" - }, - { - "Variant Annotation ID": 1451510891, - "Variant/Haplotypes": "HLA-DRB1*07:01", - "Gene": "HLA-DRB1", - "Drug(s)": "pegaspargase", - "PMID": 33768542, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "HLA alleles DQB1*02:02, DRB1*07:01, and DQA1*02:01 had significant associations with pegaspargase hypersensitivity (P < 5.0 \u00d7 10-5 ) in patients with primarily European ancestry (EA), with the three alleles associating in a single haplotype.", - "Sentence": "HLA-DRB1 *07:01 is associated with increased risk of Hypersensitivity when treated with pegaspargase.", - "Alleles": "*07:01", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Hypersensitivity", - "When treated with/exposed to/when assayed with": "when treated with" - }, - { - "Variant Annotation ID": 1451510773, - "Variant/Haplotypes": "rs9958628", - "Gene": "ARHGAP28", - "Drug(s)": "pegaspargase", - "PMID": 33768542, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "This variant is significantly associated with pegaspargase hypersensitivity in all patients and also had the strongest genetic association (P = 8.9 \u00d7 10-9 ) in non-EAs.", - "Sentence": "Allele T is associated with increased risk of Hypersensitivity when treated with pegaspargase as compared to allele A.", - "Alleles": "T", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "risk of", - "Phenotype": "Side Effect:Hypersensitivity", - "When treated with/exposed to/when assayed with": "when treated with", - "Comparison Allele(s) or Genotype(s)": "A" - } - ], - "var_fa_ann": [] - }, - "PMC3548984": { - "pmid": 23213055, - "pmcid": "PMC3548984", - "title": "CYP2D6 metabolism and patient outcome in the Austrian Breast and Colorectal Cancer Study Group trial (ABCSG) 8.", - "study_parameters": { - "Study Parameters ID": 1444933951, - "Variant Annotation ID": 1444933926, - "Study Type": "prospective", - "Study Cases": 166.0, - "Study Controls": 287.0, - "Characteristics": "endpoint: event (disease recurrence, contralateral breast cancer, second non-breast cancer, or death); PM/PM vs EM/EM", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.04", - "Ratio Stat Type": "OR", - "Ratio Stat": 2.45, - "Confidence Interval Start": 1.05, - "Confidence Interval Stop": 5.73, - "Biogeographical Groups": "European" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1444933926, - "Variant/Haplotypes": "CYP2D6*1, CYP2D6*3, CYP2D6*4", - "Gene": "CYP2D6", - "Drug(s)": "tamoxifen", - "PMID": 23213055, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "Note: article did not report all genotypes; only *1/variant allele and homozygous variant allele but no combinations of variant alleles e.g. PM/IM even if phenotype grouping exist. Genotyped for null alleles [*3 (2549 del A),*4(1846G>A), and *6(1707T>del)] reduced alleles [*10 (100 C>T and 1846 G>A) and *41 (2988 G>A)] with Applied Biosystems Taqman assay; duplicated alleles could not be assayed. \u201cextensive\u201d metabolizers do not carry a null or reduced allele (EM/EM); those with 1 to 2 reduced alleles without a null allele (EM/IM, IM/IM); one null allele (PM/IM, PM/EM), and \u201cpoor\u201d metabolizers, those with 2 null alleles (PM/PM). Post-menopausal women with estrogen receptor positive breast cancer were treated 5 years with tamoxifen only. The study grouped cases (cancer recurrence) and controls (no recurrence). In a second study arm (tamoxifen+ anastrozole) the higher risk did not persist after switching to anastrozole. [postmenopausal] [adjuvant] [DNA source: paraffin-embedded tissue] [HWE: yes for *4, *6, *10; no for *3, *41]", - "Sentence": "CYP2D6 *3/*3 + *4/*4 are associated with increased likelihood of Recurrence when treated with tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1.", - "Alleles": "*3/*3 + *4/*4", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Recurrence", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in women with", - "Population Phenotypes or diseases": "Disease:Breast Neoplasms", - "Comparison Allele(s) or Genotype(s)": "*1/*1" - }, - { - "Variant Annotation ID": 1444933959, - "Variant/Haplotypes": "CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*6", - "Gene": "CYP2D6", - "Drug(s)": "tamoxifen", - "PMID": 23213055, - "Phenotype Category": "Efficacy", - "Significance": "no", - "Notes": "Note: PM/IM genotypes are missing; article did not report all genotypes; only *1/variant allele and homozygous variant allele but no combinations of variant alleles e.g. PM/IM even if phenotype grouping exist.Genotyped for null alleles [*3 (2549 del A),*4(1846G>A), and *6(1707T>del)] reduced alleles [*10 (100 C>T and 1846 G>A) and *41 (2988 G>A)] with Applied Biosystems Taqman assay; duplicated alleles could not be assayed. \u201cextensive\u201d metabolizers do not carry a null or reduced allele (EM/EM); those with 1 to 2 reduced alleles without a null allele (EM/IM, IM/IM); one null allele (PM/IM, PM/EM), and \u201cpoor\u201d metabolizers, those with 2 null alleles (PM/PM). Post-menopausal women with estrogen receptor positive breast cancer were treated 5 years with tamoxifen only. The study grouped cases (cancer recurrence) and controls (no recurrence). In a second study arm (tamoxifen+ anastrozole) the higher risk did not persist after switching to anastrozole. [postmenopausal] [adjuvant] [DNA source: paraffin-embedded tissue] [HWE: yes for *4, *6, *10; no for *3, *41]", - "Sentence": "CYP2D6 *1/*3 + *1/*4 + *1/*6 are not associated with increased likelihood of Recurrence when treated with tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1.", - "Alleles": "*1/*3 + *1/*4 + *1/*6", - "isPlural": "Are", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Recurrence", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in women with", - "Population Phenotypes or diseases": "Disease:Breast Neoplasms", - "Comparison Allele(s) or Genotype(s)": "*1/*1" - }, - { - "Variant Annotation ID": 1444933987, - "Variant/Haplotypes": "CYP2D6*1, CYP2D6*10, CYP2D6*41", - "Gene": "CYP2D6", - "Drug(s)": "tamoxifen", - "PMID": 23213055, - "Phenotype Category": "Efficacy", - "Significance": "no", - "Notes": "Genotyped for null alleles [*3 (2549 del A),*4(1846G>A), and *6(1707T>del)] reduced alleles [*10 (100 C>T and 1846 G>A) and *41 (2988 G>A)] with Applied Biosystems Taqman assay; duplicated alleles could not be assayed. \u201cextensive\u201d metabolizers do not carry a null or reduced allele (EM/EM); those with 1 to 2 reduced alleles without a null allele (EM/IM, IM/IM); one null allele (PM/IM, PM/EM), and \u201cpoor\u201d metabolizers, those with 2 null alleles (PM/PM). Post-menopausal women with estrogen receptor positive breast cancer were treated 5 years with tamoxifen only. The study grouped cases (cancer recurrence) and controls (no recurrence). In a second study arm (tamoxifen+ anastrozole) the higher risk did not persist after switching to anastrozole. [postmenopausal] [adjuvant] [DNA source: paraffin-embedded tissue] [HWE: yes for *4, *6, *10; no for *3, *41]", - "Sentence": "CYP2D6 *1/*10 + *1/*41 + *10/*10 + *41/*41 are not associated with increased likelihood of Recurrence when treated with tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1.", - "Alleles": "*1/*10 + *1/*41 + *10/*10 + *41/*41", - "isPlural": "Are", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Recurrence", - "Multiple phenotypes And/or": "and", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in women with", - "Population Phenotypes or diseases": "Disease:Breast Neoplasms", - "Comparison Allele(s) or Genotype(s)": "*1/*1" - } - ], - "var_fa_ann": [] - }, - "PMC3584248": { - "pmid": 23476897, - "pmcid": "PMC3584248", - "title": "CYP2D6 genotypes, endoxifen levels, and disease recurrence in 224 Filipino and Vietnamese women receiving adjuvant tamoxifen for operable breast cancer.", - "study_parameters": { - "Study Parameters ID": 1444930473, - "Variant Annotation ID": 1444930388, - "Study Type": "clinical trial", - "Study Cases": 224.0, - "Characteristics": "endpoint: endoxifen concentration after 4 month; slow vs normal metabolizer; p = 0.0001 for trend: normal > intermediate > slow", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.0001", - "Ratio Stat Type": "OR", - "Biogeographical Groups": "East Asian" - }, - "var_drug_ann": [ - { - "Variant Annotation ID": 1444930388, - "Variant/Haplotypes": "CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10, CYP2D6*41", - "Gene": "CYP2D6", - "Drug(s)": "endoxifen", - "PMID": 23476897, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "No information on menopausal status or if tamoxifen only treatment. No co-treatment with CYP2D6 inhibitors CYP2D6 alleles *2, *3, *4, *5, *6, *10, and *41 are genotyped with predeveloped TaqMan Genotyping Assays. Genotypes were categorized as normal (fully functional CYP2D6 alleles: *1 and *2 -*1/*1, *1/*2, *2/*2), intermediate (alleles associated with reduced enzyme activity: heterozygous for *10 and *41-*1/*10, *2/*10, *1/*41), and slow (homozygous for *10, *41 variants and one or more non-functional null alleles: *3-*6-*10/*10, *10/*41, *1/*5, *2/*5, *5/*10). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: leukocytes] [HWE: Vietnamese *1, 2, 4, 5, 10, 41 yes Filipino *1 and *2 no rest yes] An additional nested case-control study (n=48) showed an increased risk of recurrence at low and high (>70 ng/ml) endoxifen concentrations.", - "Sentence": "CYP2D6 *10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10 are associated with decreased concentrations of endoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*2 + *2/*2.", - "Alleles": "*10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "decreased", - "PD/PK terms": "concentrations of", - "Population types": "in women with", - "Population Phenotypes or diseases": "Disease:Breast Neoplasms", - "Comparison Allele(s) or Genotype(s)": "*1/*1 + *1/*2 + *2/*2" - }, - { - "Variant Annotation ID": 1444930474, - "Variant/Haplotypes": "CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10, CYP2D6*41", - "Gene": "CYP2D6", - "Drug(s)": "4-hydroxytamoxifen, N-desmethyltamoxifen, tamoxifen", - "PMID": 23476897, - "Phenotype Category": "Metabolism/PK", - "Significance": "no", - "Notes": "No information on menopausal status or if tamoxifen only treatment. No co-treatment with CYP2D6 inhibitors CYP2D6 alleles *2, *3, *4, *5, *6, *10, and *41 are genotyped with predeveloped TaqMan Genotyping Assays. Genotypes were categorized as normal (fully functional CYP2D6 alleles: *1 and *2 -*1/*1, *1/*2, *2/*2), intermediate (alleles associated with reduced enzyme activity: heterozygous for *10 and *41-*1/*10, *2/*10, *1/*41), and slow (homozygous for *10, *41 variants and one or more non-functional null alleles: *3-*6-*10/*10, *10/*41, *1/*5, *2/*5, *5/*10). [pre-menopausal][post-menopausal] [adjuvant] [DNA source: leukocytes] [HWE: Vietnamese *1, 2, 4, 5, 10, 41 yes Filipino *1 and *2 no rest yes]", - "Sentence": "CYP2D6 *10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10 are not associated with decreased concentrations of 4-hydroxytamoxifen, n-desmethyltamoxifen and tamoxifen in women with Breast Neoplasms as compared to CYP2D6 *1/*1 + *1/*2 + *2/*2.", - "Alleles": "*10/*10 + *10/*41 + *1/*5 + *2/*5 + *5/*10", - "isPlural": "Are", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "decreased", - "PD/PK terms": "concentrations of", - "Multiple drugs And/or": "and", - "Population types": "in women with", - "Population Phenotypes or diseases": "Disease:Breast Neoplasms", - "Comparison Allele(s) or Genotype(s)": "*1/*1 + *1/*2 + *2/*2" - } - ], - "var_pheno_ann": [], - "var_fa_ann": [] - }, - "PMC6435416": { - "pmid": 30661084, - "pmcid": "PMC6435416", - "title": "CYP2D6 genotype and adverse events to risperidone in children and adolescents.", - "study_parameters": { - "Study Parameters ID": 1450932850, - "Variant Annotation ID": 1450932846, - "Study Type": "cohort, retrospective", - "Study Cases": 257.0, - "Characteristics": "multivariate analysis adjusted for age, sex, race, and initial risperidone dose", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.03", - "Ratio Stat Type": "OR", - "Ratio Stat": 2.4, - "Confidence Interval Start": 1.1, - "Confidence Interval Stop": 5.1, - "Biogeographical Groups": "Multiple groups, White Hispanic, White non-Hispanic, African American, Asian/Pacific Islander, Native American or 'Unknown' ethnicities" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1450932846, - "Variant/Haplotypes": "CYP2D6*1, CYP2D6*1xN, CYP2D6*2, CYP2D6*2xN, CYP2D6*3, CYP2D6*4, CYP2D6*4xN, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*10, CYP2D6*17, CYP2D6*29, CYP2D6*35, CYP2D6*41", - "Gene": "CYP2D6", - "Drug(s)": "risperidone", - "PMID": 30661084, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "Normal metabolizer also included: *35/*35 + *2/*9 + *2/*3 + *2/*29 + *2/*10 + *1xN/*4 + *10/*46 + *10/*35 + *1/*6 + *1/*33 + *1/*10 + *4/*35. Most common AEs were weight change (9%), sedation (6%), and extrapyramidal symptoms (6%). Of the 224 normal/ultrarapid metabolizers, 20 (9%) were taking one or more concomitant drugs that are known strong inhibitors of CYP2D6. The frequency of AEs was not different among those with a strong concomitant CYP2D6 inhibitor (6/20, 30%) vs. those without (55/204, 27%, P= 0.8). CYP2D6 phenoconversion not considered in the PM+IM vs NM+UM analysis.", - "Sentence": "CYP2D6 *4/*4 + *3/*4 + *3/*5 + *4/*4xN + *4/*6 + *5/*41 + *4/*29 + *4/*17 + *5/*10 + *3/*41 + *4/*9 + *4/*41 + *4/*10 + *5/*17 (assigned as intermediate metabolizer and poor metabolizer phenotype) are associated with increased likelihood of adverse events due to risperidone in children as compared to CYP2D6 *1/ *2xN + *1/*1xN + *1xN/ *2 + *1/ *2 + *1/*4 + *2/*4 + *1/*41 + *1/*35 + *2/*41 + *1/*9 + *1/*17 + *1/*5 + *3/*35 + *2/*5 + *2/*35 + *2/*17 + *35/*41 + *2/*6 + *1/*29 + *2/*2 + *1/*3 + *1/*1 (assigned as normal metabolizer and ultrarapid metabolizer phenotype) .", - "Alleles": "*4/*4 + *3/*4 + *3/*5 + *4/*4xN + *4/*6 + *5/*41 + *4/*29 + *4/*17 + *5/*10 + *3/*41 + *4/*9 + *4/*41 + *4/*10 + *5/*17", - "Specialty Population": "Pediatric", - "Metabolizer types": "intermediate metabolizer and poor metabolizer", - "isPlural": "Are", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:adverse events", - "When treated with/exposed to/when assayed with": "due to", - "Population types": "in children", - "Comparison Allele(s) or Genotype(s)": "*1/ *2xN + *1/*1xN + *1xN/ *2 + *1/ *2 + *1/*4 + *2/*4 + *1/*41 + *1/*35 + *2/*41 + *1/*9 + *1/*17 + *1/*5 + *3/*35 + *2/*5 + *2/*35 + *2/*17 + *35/*41 + *2/*6 + *1/*29 + *2/*2 + *1/*3 + *1/*1", - "Comparison Metabolizer types": "normal metabolizer and ultrarapid metabolizer" - } - ], - "var_fa_ann": [] - }, - "PMC11971672": { - "pmid": 40184070, - "pmcid": "PMC11971672", - "title": "Cytochrome P450 2C19 Genotypes and Clopidogrel in Patients With Ischemic Stroke: A Nonrandomized Clinical Trial.", - "study_parameters": { - "Study Parameters ID": 1453096116, - "Variant Annotation ID": 1453096120, - "Study Type": "clinical trial", - "Study Cases": 2910.0, - "Characteristics": "PLATELET trial, composite outcome (recurrent stroke, myocardial infarction, and all-cause mortality at 180 days)", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.048", - "Ratio Stat Type": "HR", - "Ratio Stat": 0.58, - "Confidence Interval Start": 0.34, - "Confidence Interval Stop": 1.0, - "Biogeographical Groups": "Unknown" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1453096120, - "Variant/Haplotypes": "CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17", - "Gene": "CYP2C19", - "Drug(s)": "clopidogrel", - "PMID": 40184070, - "Phenotype Category": "Efficacy", - "Significance": "yes", - "Notes": "\"Overall, 49 of 1785 LOF allele carriers (2.7%) and 18 of 1125 LOF allele noncarriers (1.6%) experienced cardiovascular events, defined as a composite of recurrent stroke, myocardial infarction, and all-cause mortality at 180 days...The primary outcome of composite cardiovascular events occurred significantly more in the LOF allele carrier group (49 of 1785 [2.7%]) compared with the noncarrier group (18 of 1125 [1.6%]) (HR, 0.58; 95% CI, 0.34-1.00; P\u2009=\u2009.048 for log-rank test).\"", - "Sentence": "CYP2C19 *1/*2 + *1/*3 + *2/*17 + *3/*17 + *2/*2 + *2/*3 + *3/*3 (assigned as intermediate metabolizer and poor metabolizer phenotype) is associated with increased likelihood of Stroke, Myocardial Infarction or Death when treated with clopidogrel in people with Stroke as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) .", - "Alleles": "*1/*2 + *1/*3 + *2/*17 + *3/*17 + *2/*2 + *2/*3 + *3/*3", - "Metabolizer types": "intermediate metabolizer and poor metabolizer", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Efficacy:Stroke, Efficacy:Myocardial Infarction, Efficacy:Death", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in people with", - "Population Phenotypes or diseases": "Other:Stroke", - "Comparison Allele(s) or Genotype(s)": "*1/*1 + *1/*17 + *17/*17", - "Comparison Metabolizer types": "normal metabolizer" - } - ], - "var_fa_ann": [] - }, - "PMC12036300": { - "pmid": 40295977, - "pmcid": "PMC12036300", - "title": "The frequencies of CYP2C19*2, *3, and *17 alleles and their impact on the clinical efficacy of doubled maintenance dose of clopidogrel in Syrian patients with coronary artery disease.", - "study_parameters": { - "Study Parameters ID": 1454052120, - "Variant Annotation ID": 1454052100, - "Study Cases": 41.0, - "Characteristics": "MACE, DAPT with a double maintenance dose of clopidogrel 150 mg/day (for at least one month after PCI).", - "Characteristics Type": "Study Cohort", - "Frequency In Cases": 0.08, - "Allele Of Frequency In Cases": "*2", - "P Value": "= 0.2744", - "Biogeographical Groups": "Near Eastern" - }, - "var_drug_ann": [], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1454052100, - "Variant/Haplotypes": "CYP2C19*1, CYP2C19*2, CYP2C19*17", - "Gene": "CYP2C19", - "Drug(s)": "clopidogrel", - "PMID": 40295977, - "Phenotype Category": "Efficacy", - "Significance": "no", - "Notes": "\"Among patients who underwent PCI and were treated with a double maintenance dose of clopidogrel, the carrier status of the CYP2C19*2 allele does not appear to be associated with an increased risk of MACE.\" \"Overall, two of the 41 patients who were followed up in the study experienced at least one MACE after PCI. One case was from the CYP2C19*2 allele carrier group and the other was from the non-carrier group. In terms of the distribution of MACE based on CYP2C19*2 status, there was no statistically significant correlation (P\u2009=\u20090.2744).\"", - "Sentence": "CYP2C19 *1/*2 + *2/*2 + *2/*17 is not associated with increased likelihood of Major Adverse Cardiac Events (MACE) when treated with clopidogrel as compared to CYP2C19 *1/*1.", - "Alleles": "*1/*2 + *2/*2 + *2/*17", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Major Adverse Cardiac Events (MACE)", - "When treated with/exposed to/when assayed with": "when treated with", - "Comparison Allele(s) or Genotype(s)": "*1/*1" - }, - { - "Variant Annotation ID": 1454052160, - "Variant/Haplotypes": "CYP2C19*1, CYP2C19*2, CYP2C19*17", - "Gene": "CYP2C19", - "Drug(s)": "clopidogrel", - "PMID": 40295977, - "Phenotype Category": "Efficacy", - "Significance": "no", - "Notes": "\"Our results indicated that carriers of the CYP2C19*17 variant experienced a higher incidence of bleeding events (16.67%) compared to non-carriers (6.9%). Despite this observed difference, it is important to note that the statistical analysis found no significant difference between the two groups (P\u2009=\u20090.567; see Table 7). Similarly, there was no statistically significant difference in bleeding events between CYP2C19*2 carriers and non-carriers (P\u2009=\u20090.0952; see Table 7), although a higher proportion of bleeding events was observed among carriers.\"", - "Sentence": "CYP2C19 *1/*17 + *17/*17 + *2/*17 is not associated with increased likelihood of Hemorrhage when treated with clopidogrel as compared to CYP2C19 *1/*1.", - "Alleles": "*1/*17 + *17/*17 + *2/*17", - "isPlural": "Is", - "Is/Is Not associated": "Not associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Hemorrhage", - "When treated with/exposed to/when assayed with": "when treated with", - "Comparison Allele(s) or Genotype(s)": "*1/*1" - } - ], - "var_fa_ann": [] - }, - "PMC10880264": { - "pmid": 38377518, - "pmcid": "PMC10880264", - "title": "Pharmacogenetic Factors Influence Escitalopram Pharmacokinetics and Adverse Events in Youth with a Family History of Bipolar Disorder: A Preliminary Study.", - "study_parameters": { - "Study Parameters ID": 1452390351, - "Variant Annotation ID": 1452390346, - "Study Cases": 48.0, - "Characteristics": "Outpatient youth aged 12\u201317 years who had at least one first-degree relative with bipolar I disorder; dose-normalized AUC0\u201324", - "Characteristics Type": "Study Cohort", - "P Value": "= 0.025", - "Biogeographical Groups": "Multiple groups, Non-Hispanic Caucasian n=33, Hispanic Caucasian n=6, Black or African n = 6, Multiple or other n=6" - }, - "var_drug_ann": [ - { - "Variant Annotation ID": 1452390346, - "Variant/Haplotypes": "CYP2C19 intermediate metabolizer", - "Gene": "CYP2C19", - "Drug(s)": "escitalopram", - "PMID": 38377518, - "Phenotype Category": "Metabolism/PK", - "Significance": "yes", - "Notes": "CPIC guidelines used to assign CYP2C19 metabolizer phenotypes based on CYP2C19: *1, *2,*3, *4, *5, *6, *7, *8, *17. \"CYP2C19 metabolizer phenotype had a significant effect on the dose-normalized AUC0\u201324 (p\u2009=\u20090.025), Ctrough (p\u2009=\u20090.013), and t1/2 (p\u2009=\u20090.0008) of escitalopram (Fig. 1).\u201d \"CYP2C19 metabolizer phenotypes were almost exclusively rapid metabolizer (RM n\u2009=\u200917), normal metabolizer (NM n\u2009=\u200931), or intermediate metabolizer (IM n\u2009=\u200917), with only one ultrarapid metabolizer (UM) and no poor metabolizers (PMs).\"", - "Sentence": "CYP2C19 intermediate metabolizer is associated with increased dose-adjusted trough concentrations of escitalopram in children with Depression or Anxiety Disorders as compared to CYP2C19 normal metabolizer.", - "Specialty Population": "Pediatric", - "Metabolizer types": "intermediate metabolizer", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "PD/PK terms": "dose-adjusted trough concentrations of", - "Population types": "in children with", - "Population Phenotypes or diseases": "Other:Depression, Other:Anxiety Disorders", - "Multiple phenotypes or diseases And/or": "or", - "Comparison Metabolizer types": "normal metabolizer" - } - ], - "var_pheno_ann": [ - { - "Variant Annotation ID": 1452390389, - "Variant/Haplotypes": "CYP2D6 poor metabolizer", - "Gene": "CYP2D6", - "Drug(s)": "escitalopram", - "PMID": 38377518, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"Slower CYP2D6 phenotypes were significantly associated with greater increases in TEASAP Akathisia, Hyperkinesis, and Somatic Anxiety subscale (p\u2009=\u20090.015; Fig. 2), but not with other TEASAP subscales\" \"participants with slower than normal CYP2D6 metabolism had significantly greater TEASAP disinhibition and impulsivity subscale scores than those with normal or faster than normal metabolism (mean\u2009=\u20093.0 vs. 1.1, p\u2009=\u20090.02).\" \"CYP2D6 metabolizer phenotypes were predominantly normal (NM n\u2009=\u200943) or intermediate (IM n\u2009=\u200915), with few ultrarapid (UM n\u2009=\u20092) or poor (PM n\u2009=\u20094) metabolizers. Two participants were excluded from CYP2D6-related analyses because genetic testing indicated gene duplications without revealing which allele was duplicated, thus precluding a definitive interpretation of CYP2D6 phenotype\" Alleles measured :CYP2D6: *1, *2, *2A, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *14, *15, *17, *41, gene duplication.", - "Sentence": "CYP2D6 poor metabolizer is associated with increased likelihood of Psychomotor Agitation, Hyperkinesis or Impulse control disorder, unspecified when treated with escitalopram in children with Depression or Anxiety Disorders as compared to CYP2D6 normal metabolizer.", - "Specialty Population": "Pediatric", - "Metabolizer types": "poor metabolizer", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:Psychomotor Agitation, Side Effect:Hyperkinesis, Side Effect:Impulse control disorder", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in children with", - "Population Phenotypes or diseases": "Other:Depression, Other:Anxiety Disorders", - "Multiple phenotypes or diseases And/or": "or", - "Comparison Metabolizer types": "normal metabolizer" - }, - { - "Variant Annotation ID": 1452390301, - "Variant/Haplotypes": "CYP2C19 intermediate metabolizer", - "Gene": "CYP2C19", - "Drug(s)": "escitalopram", - "PMID": 38377518, - "Phenotype Category": "Toxicity", - "Significance": "not stated", - "Notes": "CPIC guidelines used to assign CYP2C19 metabolizer phenotypes based on CYP2C19: *1, *2,*3, *4, *5, *6, *7, *8, *17. \"Slower CYP2C19 metabolizers tended to have greater TEASAP \u201cself-injury, suicidality, and harm to others\u201d subscale scores (F\u2009=\u20092.32, df\u2009=\u20092, p\u2009=\u20090.09), though CYP2C19 phenotype was not associated with increases in other TEASAP subscales scores\" \"CYP2C19 metabolizer phenotypes were almost exclusively rapid metabolizer (RM n\u2009=\u200917), normal metabolizer (NM n\u2009=\u200931), or intermediate metabolizer (IM n\u2009=\u200917), with only one ultrarapid metabolizer (UM) and no poor metabolizers (PMs).\"", - "Sentence": "CYP2C19 intermediate metabolizer is associated with increased likelihood of suicidal ideation, adverse events or deliberate self-harm when treated with escitalopram in children with Depression or Anxiety Disorders as compared to CYP2C19 normal metabolizer.", - "Specialty Population": "Pediatric", - "Metabolizer types": "intermediate metabolizer", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:suicidal ideation, Side Effect:adverse events, Side Effect:deliberate self-harm", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in children with", - "Population Phenotypes or diseases": "Other:Depression, Other:Anxiety Disorders", - "Multiple phenotypes or diseases And/or": "or", - "Comparison Metabolizer types": "normal metabolizer" - }, - { - "Variant Annotation ID": 1452390352, - "Variant/Haplotypes": "rs6311", - "Gene": "HTR2A", - "Drug(s)": "escitalopram", - "PMID": 38377518, - "Phenotype Category": "Toxicity", - "Significance": "yes", - "Notes": "\"Participants with HTR2A A/A or A/G genotypes had a greater increase in TEASAP \u201cSelf-injury, Suicidality, and Harm to Others\u201d subscale scores relative to those with HTR2A G/G genotypes (p\u2009=\u20090.017)\" Alleles complemented.", - "Sentence": "Genotypes CT + TT (assigned as intermediate metabolizer phenotype) is associated with increased likelihood of suicidal ideation, adverse events or deliberate self-harm when treated with escitalopram in children with Depression or Anxiety Disorders as compared to genotype CC (assigned as normal metabolizer phenotype) .", - "Alleles": "CT + TT", - "Specialty Population": "Pediatric", - "Metabolizer types": "intermediate metabolizer", - "isPlural": "Is", - "Is/Is Not associated": "Associated with", - "Direction of effect": "increased", - "Side effect/efficacy/other": "likelihood of", - "Phenotype": "Side Effect:suicidal ideation, Side Effect:adverse events, Side Effect:deliberate self-harm", - "Multiple phenotypes And/or": "or", - "When treated with/exposed to/when assayed with": "when treated with", - "Population types": "in children with", - "Population Phenotypes or diseases": "Other:Depression, Other:Anxiety Disorders", - "Multiple phenotypes or diseases And/or": "or", - "Comparison Allele(s) or Genotype(s)": "CC", - "Comparison Metabolizer types": "normal metabolizer" - } - ], - "var_fa_ann": [] - } -} \ No newline at end of file diff --git a/main.py b/main.py deleted file mode 100644 index 607cdc5..0000000 --- a/main.py +++ /dev/null @@ -1,17 +0,0 @@ -# SPDX-FileCopyrightText: 2025 Stanford University and the project authors (see CONTRIBUTORS.md) -# -# SPDX-License-Identifier: Apache-2.0 -""" -Main module for [your project name]. - -This module is the entry point for the [brief description of your application]. -It handles [brief list of responsibilities, e.g. configuration, startup, orchestration]. - -Usage: - python main.py [args] - -Author: [Your Name or Lab] -""" - -if __name__ == "__main__": - pass diff --git a/notebooks/benchmark_articles_editor.ipynb b/notebooks/benchmark_articles_editor.ipynb new file mode 100644 index 0000000..88100f1 --- /dev/null +++ b/notebooks/benchmark_articles_editor.ipynb @@ -0,0 +1,229 @@ +{ + "cells": [ + { + "cell_type": "code", + "execution_count": 28, + "id": "9f6f5310", + "metadata": {}, + "outputs": [ + { + "name": "stdout", + "output_type": "stream", + "text": [ + "The autoreload extension is already loaded. To reload it, use:\n", + " %reload_ext autoreload\n", + "/Users/shloknatarajan/stanford/research/daneshjou/AutoGKB\n" + ] + } + ], + "source": [ + "# Notebook Setup\n", + "# Run this cell: \n", + "# The lines below will instruct jupyter to reload imported modules before \n", + "# executing code cells. This enables you to quickly iterate and test revisions\n", + "# to your code without having to restart the kernel and reload all of your \n", + "# modules each time you make a code change in a separate python file.\n", + "\n", + "%load_ext autoreload\n", + "%autoreload 2\n", + "\n", + "import os\n", + "\n", + "# Change path to project root\n", + "if os.getcwd().endswith(\"notebooks\"):\n", + " os.chdir(os.path.dirname(os.getcwd()))\n", + "print(os.getcwd())" + ] + }, + { + "cell_type": "code", + "execution_count": 29, + "id": "f846ec96", + "metadata": {}, + "outputs": [], + "source": [ + "import pandas as pd" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "id": "2e27cab5", + "metadata": {}, + "outputs": [ + { + "data": { + "text/html": [ + "
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PMIDPMCIDComment
039346054PMC11430164in vitro study CYP3A4, lots of variants
138216550PMC10786722DPYD
238568509PMC10993165drug combination (sulfamethoxazole / trimethop...
340786508PMC12331468DPYD, TYMS and others, bunch of cancer chemoth...
440761554PMC12319246tacrolimus kidney transplant lots of VAs
\n", + "
" + ], + "text/plain": [ + " PMID PMCID Comment\n", + "0 39346054 PMC11430164 in vitro study CYP3A4, lots of variants\n", + "1 38216550 PMC10786722 DPYD\n", + "2 38568509 PMC10993165 drug combination (sulfamethoxazole / trimethop...\n", + "3 40786508 PMC12331468 DPYD, TYMS and others, bunch of cancer chemoth...\n", + "4 40761554 PMC12319246 tacrolimus kidney transplant lots of VAs" + ] + }, + "execution_count": 30, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "provided_csv = pd.read_csv(\"persistent_data/benchmark_articles.csv\")\n", + "provided_csv.head()" + ] + }, + { + "cell_type": "markdown", + "id": "65a24379", + "metadata": {}, + "source": [ + "We want to add:\n", + "1. Title\n", + "2. Number of Drug Annotations\n", + "3. Number of Functional Analysis Annotations\n", + "4. Number of Phenotype Annotations" + ] + }, + { + "cell_type": "code", + "execution_count": 31, + "id": "ee4f5d40", + "metadata": {}, + "outputs": [], + "source": [ + "# look up article from data/annotations/next_data/annotations_by_pmcid.json\n", + "import json\n", + "\n", + "# Load the annotations by PMCID data\n", + "annotations_by_pmcid = json.load(open(\"data/next_data/annotations_by_pmcid.json\", \"r\"))" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "id": "359e9feb", + "metadata": {}, + "outputs": [], + "source": [ + "# Create lists to hold the values\n", + "titles = []\n", + "drug_counts = []\n", + "fa_counts = []\n", + "pheno_counts = []\n", + "study_counts = []\n", + "\n", + "for pmcid in provided_csv['PMCID']:\n", + " if pmcid in annotations_by_pmcid:\n", + " annotation = annotations_by_pmcid[pmcid]\n", + " titles.append(annotation['title'])\n", + " study_counts.append(len(annotation['study_parameters']))\n", + " drug_counts.append(len(annotation['var_drug_ann']))\n", + " fa_counts.append(len(annotation['var_fa_ann']))\n", + " pheno_counts.append(len(annotation['var_pheno_ann']))\n", + " else:\n", + " titles.append('')\n", + " study_counts.append(0)\n", + " drug_counts.append(0)\n", + " fa_counts.append(0)\n", + " pheno_counts.append(0)\n", + "\n", + "# Assign all at once\n", + "provided_csv['Title'] = titles\n", + "provided_csv['Study Parameters Count'] = study_counts\n", + "provided_csv['Drug Annotations Count'] = drug_counts\n", + "provided_csv['Functional Analysis Annotations Count'] = fa_counts\n", + "provided_csv['Phenotype Annotations Count'] = pheno_counts\n", + "\n", + "provided_csv.to_csv(\"persistent_data/benchmark_articles_updated.csv\", index=False)" + ] + }, + { + "cell_type": "code", + "execution_count": null, + "id": "d7d52914", + "metadata": {}, + "outputs": [], + "source": [] + } + ], + "metadata": { + "kernelspec": { + "display_name": "default", + "language": "python", + "name": "python3" + }, + "language_info": { + "codemirror_mode": { + "name": "ipython", + "version": 3 + }, + "file_extension": ".py", + "mimetype": "text/x-python", + "name": "python", + "nbconvert_exporter": "python", + "pygments_lexer": "ipython3", + "version": "3.13.3" + } + }, + "nbformat": 4, + "nbformat_minor": 5 +} diff --git a/notebooks/create_pmid_annotations.ipynb b/notebooks/create_pmid_annotations.ipynb deleted file mode 100644 index 3b7cf45..0000000 --- a/notebooks/create_pmid_annotations.ipynb +++ /dev/null @@ -1,618 +0,0 @@ -{ - "cells": [ - { - "cell_type": "code", - "execution_count": 70, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "The autoreload extension is already loaded. To reload it, use:\n", - " %reload_ext autoreload\n" - ] - } - ], - "source": [ - "# Run this cell: \n", - "# The lines below will instruct jupyter to reload imported modules before \n", - "# executing code cells. This enables you to quickly iterate and test revisions\n", - "# to your code without having to restart the kernel and reload all of your \n", - "# modules each time you make a code change in a separate python file.\n", - "\n", - "%load_ext autoreload\n", - "%autoreload 2" - ] - }, - { - "cell_type": "code", - "execution_count": 71, - "metadata": {}, - "outputs": [], - "source": [ - "import pandas as pd\n", - "import os\n", - "from tqdm import tqdm\n", - "import pickle\n", - "from loguru import logger\n", - "import json" - ] - }, - { - "cell_type": "code", - "execution_count": 72, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "/Users/shloknatarajan/stanford/research/daneshjou/AutoGKB\n" - ] - } - ], - "source": [ - "# Change path to project root\n", - "if os.getcwd().endswith(\"notebooks\"):\n", - " os.chdir(os.path.dirname(os.getcwd()))\n", - "print(os.getcwd())" - ] - }, - { - "cell_type": "code", - "execution_count": 73, - "metadata": {}, - "outputs": [], - "source": [ - "# load all the data/variant_annotations tsv files\n", - "study_parameters = pd.read_csv(os.path.join(\"data\", \"variantAnnotations\", \"study_parameters.tsv\"), sep=\"\\t\")\n", - "var_drug_ann = pd.read_csv(os.path.join(\"data\", \"variantAnnotations\", \"var_drug_ann.tsv\"), sep=\"\\t\")\n", - "var_fa_ann = pd.read_csv(os.path.join(\"data\", \"variantAnnotations\", \"var_fa_ann.tsv\"), sep=\"\\t\")\n", - "var_pheno_ann = pd.read_csv(os.path.join(\"data\", \"variantAnnotations\", \"var_pheno_ann.tsv\"), sep=\"\\t\")" - ] - }, - { - "cell_type": "code", - "execution_count": 74, - "metadata": {}, - "outputs": [], - "source": [ - "# Check unique Varriant Annotatiosn in study_parameters\n", - "unique_variant_annotations = study_parameters['Variant Annotation ID'].unique()\n", - "\n", - "# Find rows where a Variant Annotation ID appears in multiple rows\n", - "duplicate_variant_annotations = study_parameters[study_parameters.duplicated(subset=['Variant Annotation ID'])]\n", - "\n", - "# Count the number of duplicate Variant Annotation IDs\n", - "num_duplicate_variant_annotations = len(duplicate_variant_annotations)\n", - "\n", - "\n" - ] - }, - { - "cell_type": "code", - "execution_count": 75, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "array(['case/control', 'meta-analysis', 'cohort', nan, 'retrospective',\n", - " 'case series', 'clinical trial', 'cohort, retrospective',\n", - " 'cohort, prospective', 'cohort, clinical trial', 'GWAS',\n", - " 'case/control, GWAS', 'case/control, meta-analysis',\n", - " 'cohort, GWAS', 'meta-analysis, retrospective', 'prospective',\n", - " 'case series, retrospective',\n", - " 'case/control, clinical trial, retrospective',\n", - " 'cohort, clinical trial, prospective', 'cohort, replication',\n", - " 'case/control, retrospective', 'clinical trial, GWAS',\n", - " 'case/control, prospective', 'cohort, prospective, retrospective',\n", - " 'replication', 'cohort, case/control',\n", - " 'clinical trial, prospective', 'prospective, retrospective',\n", - " 'GWAS, replication', 'meta-analysis, GWAS',\n", - " 'case/control, clinical trial, prospective',\n", - " 'case series, prospective', 'cohort, meta-analysis',\n", - " 'case/control, GWAS, retrospective', 'cross sectional',\n", - " 'cohort, case series', 'case/control, case series',\n", - " 'clinical trial, meta-analysis', 'clinical trial, replication',\n", - " 'cohort, trios', 'replication, retrospective', 'GWAS, prospective',\n", - " 'cohort, clinical trial, retrospective',\n", - " 'clinical trial, GWAS, prospective',\n", - " 'case/control, clinical trial, prospective, retrospective',\n", - " 'case/control, meta-analysis, GWAS', 'trios',\n", - " 'clinical trial, retrospective', 'case/control, replication',\n", - " 'meta-analysis, prospective', 'case/control, clinical trial',\n", - " 'case series, clinical trial',\n", - " 'cohort, meta-analysis, retrospective', 'case series, trios',\n", - " 'meta-analysis, replication, prospective',\n", - " 'case series, meta-analysis', 'cohort, linkage',\n", - " 'meta-analysis, replication', 'cross sectional, GWAS',\n", - " 'case series, linkage', 'linkage', 'retrospective, linkage, trios',\n", - " 'case series, retrospective, trios',\n", - " 'cohort, case series, retrospective', 'cohort, GWAS, prospective',\n", - " 'cohort, replication, prospective',\n", - " 'clinical trial, meta-analysis, retrospective',\n", - " 'cohort, replication, retrospective', 'cohort, GWAS, replication',\n", - " 'cohort, cross sectional, retrospective', 'cohort, linkage, trios',\n", - " 'cohort, clinical trial, meta-analysis',\n", - " 'clinical trial, GWAS, retrospective',\n", - " 'case series, linkage, trios', 'linkage, trios',\n", - " 'cohort, meta-analysis, replication',\n", - " 'case series, retrospective, linkage',\n", - " 'cohort, case/control, GWAS', 'cohort, case/control, replication',\n", - " 'clinical trial, replication, prospective',\n", - " 'cohort, case/control, retrospective',\n", - " 'case/control, replication, retrospective',\n", - " 'cohort, clinical trial, GWAS', 'cohort, cross sectional',\n", - " 'case/control, case series, retrospective',\n", - " 'case/control, clinical trial, meta-analysis',\n", - " 'cohort, meta-analysis, prospective',\n", - " 'case/control, clinical trial, GWAS',\n", - " 'clinical trial, meta-analysis, GWAS',\n", - " 'clinical trial, meta-analysis, prospective',\n", - " 'cohort, GWAS, retrospective', 'GWAS, retrospective',\n", - " 'cohort, case series, prospective', 'cohort, meta-analysis, GWAS',\n", - " 'replication, prospective', 'meta-analysis, GWAS, retrospective',\n", - " 'clinical trial, meta-analysis, prospective, trios',\n", - " 'cross sectional, retrospective',\n", - " 'cohort, case/control, prospective',\n", - " 'GWAS, replication, retrospective',\n", - " 'clinical trial, meta-analysis, replication',\n", - " 'meta-analysis, GWAS, replication'], dtype=object)" - ] - }, - "execution_count": 75, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "study_parameters[\"Study Type\"].unique()" - ] - }, - { - "cell_type": "code", - "execution_count": 76, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "28525" - ] - }, - "execution_count": 76, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "# Convert var_drug_ann to pmid, Variant Annotation ID, and Variant Annotation Type\n", - "pmid_table = var_drug_ann[['PMID', 'Variant Annotation ID']]\n", - "pmid_table = pd.concat([pmid_table, var_fa_ann[['PMID', 'Variant Annotation ID']]])\n", - "pmid_table = pd.concat([pmid_table, var_pheno_ann[['PMID', 'Variant Annotation ID']]])\n", - "pmid_table.drop_duplicates(inplace=True)\n", - "len(pmid_table)" - ] - }, - { - "cell_type": "code", - "execution_count": 77, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "34836" - ] - }, - "execution_count": 77, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "# join study parameters with pmid_table on Variant Annotation ID\n", - "study_parameters = study_parameters.merge(pmid_table, on='Variant Annotation ID', how='left')\n", - "len(study_parameters)" - ] - }, - { - "cell_type": "code", - "execution_count": 78, - "metadata": {}, - "outputs": [], - "source": [ - "sorted_params = study_parameters.sort_values(by=\"Variant Annotation ID\", inplace=False)" - ] - }, - { - "cell_type": "code", - "execution_count": 88, - "metadata": {}, - "outputs": [ - { - "name": "stderr", - "output_type": "stream", - "text": [ - "100%|██████████| 34836/34836 [00:48<00:00, 713.75it/s]\n" - ] - } - ], - "source": [ - "# check for annotations_by_pmid.pkl\n", - "pmid_table = []\n", - "if os.path.exists(\"data/variantAnnotations/annotations_by_pmid.pkl\"):\n", - " with open(\"data/variantAnnotations/annotations_by_pmid.pkl\", \"rb\") as f:\n", - " pmid_table = pickle.load(f)\n", - " logger.info(f\"Loaded {len(pmid_table)} pmid annotations from pickle\")\n", - "else:\n", - " for index, row in tqdm(study_parameters.iterrows(), total=len(study_parameters)):\n", - " pmid = row['PMID']\n", - "\n", - " # Filter by Variant Annotation ID\n", - " var_drug_ann_filtered = var_drug_ann[var_drug_ann['PMID'] == pmid].to_dict(orient='records')\n", - " # Convert to list\n", - " var_fa_ann_filtered = var_fa_ann[var_fa_ann['PMID'] == pmid].to_dict(orient='records')\n", - "\n", - " var_pheno_ann_filtered = var_pheno_ann[var_pheno_ann['PMID'] == pmid].to_dict(orient='records')\n", - "\n", - " # Filter by Variant Annotation Type\n", - " pmid_addition = {\n", - " \"pmid\": pmid,\n", - " \"pmcid\": None,\n", - " \"title\": None,\n", - " \"study_parameters\": row.to_dict(),\n", - " \"var_drug_ann\": var_drug_ann_filtered,\n", - " \"var_fa_ann\": var_fa_ann_filtered,\n", - " \"var_pheno_ann\": var_pheno_ann_filtered,\n", - " }\n", - " pmid_table.append(pmid_addition)" - ] - }, - { - "cell_type": "code", - "execution_count": 90, - "metadata": {}, - "outputs": [], - "source": [ - "# save pmid_table to pickle\n", - "# pickle.dump(pmid_table, open(\"data/variantAnnotations/annotations_by_pmid.pkl\", \"wb\"))\n", - "# save pmid_table to json\n", - "# json.dump(pmid_table, open(\"data/variantAnnotations/annotations_by_pmid.json\", \"w\"))" - ] - }, - { - "cell_type": "code", - "execution_count": 91, - "metadata": {}, - "outputs": [], - "source": [ - "pmcid_mapping = json.load(open(\"data/pmcid_mapping_updated.json\"))" - ] - }, - { - "cell_type": "code", - "execution_count": 96, - "metadata": {}, - "outputs": [], - "source": [ - "def get_title_from_markdown(markdown_path: str):\n", - " with open(markdown_path, \"r\") as f:\n", - " markdown_text = f.read()\n", - " # get the title from the markdown text\n", - " title = markdown_text.split(\"\\n\")[0]\n", - " # remove the # from the title\n", - " title = title.replace(\"# \", \"\")\n", - " return title\n" - ] - }, - { - "cell_type": "code", - "execution_count": 108, - "metadata": {}, - "outputs": [ - { - "name": "stderr", - "output_type": "stream", - "text": [ - "100%|██████████| 34836/34836 [00:01<00:00, 24847.06it/s]" - ] - }, - { - "name": "stdout", - "output_type": "stream", - "text": [ - "Found 13523 pmcids\n" - ] - }, - { - "name": "stderr", - "output_type": "stream", - "text": [ - "\n" - ] - } - ], - "source": [ - "# lets add pmcids and titles to the pmid_table\n", - "found_pmcids = 0\n", - "for pmid_addition in tqdm(pmid_table):\n", - " title = \"\"\n", - " pmcid = \"\"\n", - " pmcid = pmcid_mapping[str(pmid_addition[\"pmid\"])]\n", - " if pmcid is None:\n", - " pmid_addition[\"pmcid\"] = None\n", - " pmid_addition[\"title\"] = None\n", - " continue\n", - " found_pmcids += 1\n", - " markdown_path = os.path.join(\"data\", \"articles\", f\"{pmcid}.md\")\n", - " if os.path.exists(markdown_path):\n", - " title = get_title_from_markdown(markdown_path)\n", - " else:\n", - " title = \"\"\n", - " pmid_addition[\"pmcid\"] = pmcid\n", - " pmid_addition[\"title\"] = title\n", - "print(f\"Found {found_pmcids} pmcids\")" - ] - }, - { - "cell_type": "code", - "execution_count": 109, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "13523" - ] - }, - "execution_count": 109, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "pmid_table_filtered = []\n", - "for pmid_addition in pmid_table:\n", - " if pmid_addition[\"pmcid\"] is None:\n", - " continue\n", - " pmid_table_filtered.append(pmid_addition)\n", - "len(pmid_table_filtered)\n" - ] - }, - { - "cell_type": "code", - "execution_count": 111, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "{'pmid': 29238301,\n", - " 'pmcid': 'PMC5712579',\n", - " 'title': 'Association of HLA-A and HLA-B Alleles with Lamotrigine-Induced Cutaneous Adverse Drug Reactions in the Thai Population',\n", - " 'study_parameters': {'Study Parameters ID': 1449169927,\n", - " 'Variant Annotation ID': 1449169911,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 15.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'SCAR, MPE, SJS (cases and controls)',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.06,\n", - " 'Allele Of Frequency In Cases': '*35:08',\n", - " 'Frequency In Controls': 0.001,\n", - " 'Allele Of Frequency In Controls': '*35:08',\n", - " 'P Value': '= 0.231',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 10.45,\n", - " 'Confidence Interval Start': 0.4,\n", - " 'Confidence Interval Stop': 270.41,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " 'var_drug_ann': [],\n", - " 'var_fa_ann': [],\n", - " 'var_pheno_ann': [{'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan}]}" - ] - }, - "execution_count": 111, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "pmid_table_filtered[0]" - ] - }, - { - "cell_type": "code", - "execution_count": 112, - "metadata": {}, - "outputs": [], - "source": [ - "# Save pmid_table_filtered to pickle\n", - "pickle.dump(pmid_table_filtered, open(\"data/variantAnnotations/annotations_by_pmcid.pkl\", \"wb\"))\n", - "# Save pmid_table_filtered to json\n", - "json.dump(pmid_table_filtered, open(\"data/variantAnnotations/annotations_by_pmcid.json\", \"w\"))\n" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "metadata": {}, - "outputs": [], - "source": [] - } - ], - "metadata": { - "kernelspec": { - "display_name": "default", - "language": "python", - "name": "python3" - }, - "language_info": { - "codemirror_mode": { - "name": "ipython", - "version": 3 - }, - "file_extension": ".py", - "mimetype": "text/x-python", - "name": "python", - "nbconvert_exporter": "python", - "pygments_lexer": "ipython3", - "version": "3.13.3" - } - }, - "nbformat": 4, - "nbformat_minor": 2 -} diff --git a/notebooks/exploration.ipynb b/notebooks/exploration.ipynb deleted file mode 100644 index 5bd78f2..0000000 --- a/notebooks/exploration.ipynb +++ /dev/null @@ -1,3211 +0,0 @@ -{ - "cells": [ - { - "cell_type": "code", - "execution_count": 1, - "metadata": {}, - "outputs": [], - "source": [ - "# Run this cell: \n", - "# The lines below will instruct jupyter to reload imported modules before \n", - "# executing code cells. This enables you to quickly iterate and test revisions\n", - "# to your code without having to restart the kernel and reload all of your \n", - "# modules each time you make a code change in a separate python file.\n", - "\n", - "%load_ext autoreload\n", - "%autoreload 2" - ] - }, - { - "cell_type": "code", - "execution_count": 3, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "/Users/shloknatarajan/stanford/research/daneshjou/AutoGKB\n" - ] - } - ], - "source": [ - "import os\n", - "\n", - "# Change path to project root\n", - "if os.getcwd().endswith(\"notebooks\"):\n", - " os.chdir(os.path.dirname(os.getcwd()))\n", - "print(os.getcwd())" - ] - }, - { - "cell_type": "code", - "execution_count": 2, - "metadata": {}, - "outputs": [], - "source": [ - "import pandas as pd\n", - "import os\n", - "from tqdm import tqdm\n", - "import pickle\n", - "from loguru import logger\n", - "import json" - ] - }, - { - "cell_type": "markdown", - "metadata": {}, - "source": [ - "## Articles to get\n", - "- 3: Articles with only one annotation\n", - "- 3: Articles with 2 annotations\n", - "- 1: Article with all 3 annotations" - ] - }, - { - "cell_type": "markdown", - "metadata": {}, - "source": [ - "## Setup" - ] - }, - { - "cell_type": "code", - "execution_count": 4, - "metadata": {}, - "outputs": [], - "source": [ - "# load annotations_by_pmcid\n", - "annotations_by_pmcid = pickle.load(open(\"data/variantAnnotations/annotations_by_pmcid.pkl\", \"rb\"))\n" - ] - }, - { - "cell_type": "markdown", - "metadata": {}, - "source": [ - "## Only One Annotation" - ] - }, - { - "cell_type": "code", - "execution_count": 24, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "5021" - ] - }, - "execution_count": 24, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "only_drug = []\n", - "for pmid_addition in annotations_by_pmcid:\n", - " if len(pmid_addition[\"var_drug_ann\"]) > 0 and len(pmid_addition[\"var_fa_ann\"]) == 0 and len(pmid_addition[\"var_pheno_ann\"]) == 0:\n", - " only_drug.append(pmid_addition)\n", - "len(only_drug)" - ] - }, - { - "cell_type": "code", - "execution_count": 25, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "368" - ] - }, - "execution_count": 25, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "only_fa = []\n", - "for pmid_addition in annotations_by_pmcid:\n", - " if len(pmid_addition[\"var_drug_ann\"]) == 0 and len(pmid_addition[\"var_fa_ann\"]) > 0 and len(pmid_addition[\"var_pheno_ann\"]) == 0:\n", - " only_fa.append(pmid_addition)\n", - "len(only_fa)" - ] - }, - { - "cell_type": "code", - "execution_count": 26, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "5857" - ] - }, - "execution_count": 26, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "only_pheno = []\n", - "for pmid_addition in annotations_by_pmcid:\n", - " if len(pmid_addition[\"var_drug_ann\"]) == 0 and len(pmid_addition[\"var_fa_ann\"]) == 0 and len(pmid_addition[\"var_pheno_ann\"]) > 0:\n", - " only_pheno.append(pmid_addition)\n", - "len(only_pheno)" - ] - }, - { - "cell_type": "markdown", - "metadata": {}, - "source": [ - "## Two Annotations and All Three" - ] - }, - { - "cell_type": "code", - "execution_count": 27, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "Two annotations: 2249\n", - "All three annotations: 28\n" - ] - } - ], - "source": [ - "two_annotations = []\n", - "all_three_annotations = []\n", - "for pmid_addition in annotations_by_pmcid:\n", - " annotation_count = 0\n", - " if len(pmid_addition[\"var_drug_ann\"]) > 0:\n", - " annotation_count += 1\n", - " if len(pmid_addition[\"var_fa_ann\"]) > 0:\n", - " annotation_count += 1\n", - " if len(pmid_addition[\"var_pheno_ann\"]) > 0:\n", - " annotation_count += 1\n", - " if annotation_count == 2:\n", - " two_annotations.append(pmid_addition)\n", - " elif annotation_count == 3:\n", - " all_three_annotations.append(pmid_addition)\n", - "print(f\"Two annotations: {len(two_annotations)}\")\n", - "print(f\"All three annotations: {len(all_three_annotations)}\")\n" - ] - }, - { - "cell_type": "code", - "execution_count": 28, - "metadata": {}, - "outputs": [], - "source": [ - "# Save all to new json files\n", - "with open(\"data/variantAnnotations/exploration/two_annotations.json\", \"w\") as f:\n", - " json.dump(two_annotations, f)\n", - "with open(\"data/variantAnnotations/exploration/all_three_annotations.json\", \"w\") as f:\n", - " json.dump(all_three_annotations, f)\n", - "with open(\"data/variantAnnotations/exploration/only_drug.json\", \"w\") as f:\n", - " json.dump(only_drug, f)\n", - "with open(\"data/variantAnnotations/exploration/only_fa.json\", \"w\") as f:\n", - " json.dump(only_fa, f)\n", - "with open(\"data/variantAnnotations/exploration/only_pheno.json\", \"w\") as f:\n", - " json.dump(only_pheno, f)" - ] - }, - { - "cell_type": "markdown", - "metadata": {}, - "source": [ - "## One of each study type" - ] - }, - { - "cell_type": "code", - "execution_count": 5, - "metadata": {}, - "outputs": [], - "source": [ - "study_types = {\n", - " \"cohort\": [],\n", - " \"case_control\": [],\n", - " \"case_series\": [],\n", - " \"cross_sectional\": [],\n", - " \"clinical_trial\": [],\n", - " \"meta_analysis\": [],\n", - " \"GWAS\": [],\n", - " \"replication\": [],\n", - " \"prospective\": [],\n", - " \"retrospective\": [],\n", - " \"linkage\": [],\n", - " \"other\": [] \n", - "}" - ] - }, - { - "cell_type": "code", - "execution_count": 6, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "{'pmid': 29238301,\n", - " 'pmcid': 'PMC5712579',\n", - " 'title': 'Association of HLA-A and HLA-B Alleles with Lamotrigine-Induced Cutaneous Adverse Drug Reactions in the Thai Population',\n", - " 'study_parameters': {'Study Parameters ID': 1449169927,\n", - " 'Variant Annotation ID': 1449169911,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 15.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'SCAR, MPE, SJS (cases and controls)',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.06,\n", - " 'Allele Of Frequency In Cases': '*35:08',\n", - " 'Frequency In Controls': 0.001,\n", - " 'Allele Of Frequency In Controls': '*35:08',\n", - " 'P Value': '= 0.231',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 10.45,\n", - " 'Confidence Interval Start': 0.4,\n", - " 'Confidence Interval Stop': 270.41,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " 'var_drug_ann': [],\n", - " 'var_fa_ann': [],\n", - " 'var_pheno_ann': [{'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan}]}" - ] - }, - "execution_count": 6, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "annotations_by_pmcid[0]" - ] - }, - { - "cell_type": "code", - "execution_count": 7, - "metadata": {}, - "outputs": [], - "source": [ - "all_study_types = set()\n", - "for annotation in annotations_by_pmcid:\n", - " study_type = annotation[\"study_parameters\"][\"Study Type\"]\n", - " all_study_types.add(study_type)\n", - "\n", - "# remove nan from all_study_types\n", - "all_study_types = list({t for t in all_study_types if pd.notna(t)})\n", - "all_study_types.sort()\n", - "\n" - ] - }, - { - "cell_type": "code", - "execution_count": 8, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "GWAS\n", - "GWAS, prospective\n", - "GWAS, replication\n", - "GWAS, retrospective\n", - "case series\n", - "case series, clinical trial\n", - "case series, linkage, trios\n", - "case series, trios\n", - "case/control\n", - "case/control, GWAS\n", - "case/control, GWAS, retrospective\n", - "case/control, case series\n", - "case/control, clinical trial\n", - "case/control, clinical trial, GWAS\n", - "case/control, clinical trial, meta-analysis\n", - "case/control, clinical trial, prospective\n", - "case/control, clinical trial, retrospective\n", - "case/control, meta-analysis\n", - "case/control, meta-analysis, GWAS\n", - "case/control, prospective\n", - "case/control, replication\n", - "case/control, replication, retrospective\n", - "case/control, retrospective\n", - "clinical trial\n", - "clinical trial, GWAS\n", - "clinical trial, meta-analysis\n", - "clinical trial, meta-analysis, GWAS\n", - "clinical trial, meta-analysis, replication\n", - "clinical trial, prospective\n", - "clinical trial, replication\n", - "clinical trial, replication, prospective\n", - "clinical trial, retrospective\n", - "cohort\n", - "cohort, GWAS\n", - "cohort, GWAS, prospective\n", - "cohort, GWAS, replication\n", - "cohort, GWAS, retrospective\n", - "cohort, case series\n", - "cohort, case series, prospective\n", - "cohort, case/control\n", - "cohort, case/control, GWAS\n", - "cohort, case/control, replication\n", - "cohort, case/control, retrospective\n", - "cohort, clinical trial\n", - "cohort, clinical trial, meta-analysis\n", - "cohort, clinical trial, prospective\n", - "cohort, clinical trial, retrospective\n", - "cohort, cross sectional, retrospective\n", - "cohort, linkage\n", - "cohort, meta-analysis\n", - "cohort, meta-analysis, GWAS\n", - "cohort, meta-analysis, retrospective\n", - "cohort, prospective\n", - "cohort, prospective, retrospective\n", - "cohort, replication\n", - "cohort, replication, prospective\n", - "cohort, replication, retrospective\n", - "cohort, retrospective\n", - "cohort, trios\n", - "cross sectional\n", - "cross sectional, retrospective\n", - "linkage\n", - "linkage, trios\n", - "meta-analysis\n", - "meta-analysis, GWAS\n", - "meta-analysis, GWAS, replication\n", - "meta-analysis, GWAS, retrospective\n", - "meta-analysis, replication\n", - "meta-analysis, retrospective\n", - "prospective\n", - "prospective, retrospective\n", - "replication\n", - "replication, prospective\n", - "replication, retrospective\n", - "retrospective\n", - "retrospective, linkage, trios\n", - "trios\n" - ] - } - ], - "source": [ - "for x in all_study_types:\n", - " print(x)" - ] - }, - { - "cell_type": "code", - "execution_count": 9, - "metadata": {}, - "outputs": [ - { - "name": "stderr", - "output_type": "stream", - "text": [ - "Analyzing annotation study types: 100%|██████████| 13523/13523 [00:00<00:00, 1573882.37it/s]\n" - ] - } - ], - "source": [ - "annotations_by_study_type = {}\n", - "for annotation in tqdm(annotations_by_pmcid, desc=\"Analyzing annotation study types\"):\n", - " annotation_study_type = annotation[\"study_parameters\"][\"Study Type\"]\n", - " if pd.isna(annotation_study_type):\n", - " annotation_study_type = \"nan\"\n", - " if annotation_study_type not in annotations_by_study_type:\n", - " annotations_by_study_type[annotation_study_type] = []\n", - " annotations_by_study_type[annotation_study_type].append(annotation)\n" - ] - }, - { - "cell_type": "code", - "execution_count": 10, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "GWAS: 400\n", - "GWAS, prospective: 7\n", - "GWAS, replication: 3\n", - "GWAS, retrospective: 9\n", - "case series: 299\n", - "case series, clinical trial: 3\n", - "case series, linkage, trios: 1\n", - "case series, trios: 1\n", - "case/control: 1473\n", - "case/control, GWAS: 97\n", - "case/control, GWAS, retrospective: 7\n", - "case/control, case series: 1\n", - "case/control, clinical trial: 26\n", - "case/control, clinical trial, GWAS: 3\n", - "case/control, clinical trial, meta-analysis: 2\n", - "case/control, clinical trial, prospective: 27\n", - "case/control, clinical trial, retrospective: 9\n", - "case/control, meta-analysis: 58\n", - "case/control, meta-analysis, GWAS: 17\n", - "case/control, prospective: 8\n", - "case/control, replication: 30\n", - "case/control, replication, retrospective: 2\n", - "case/control, retrospective: 78\n", - "clinical trial: 502\n", - "clinical trial, GWAS: 51\n", - "clinical trial, meta-analysis: 6\n", - "clinical trial, meta-analysis, GWAS: 2\n", - "clinical trial, meta-analysis, replication: 1\n", - "clinical trial, prospective: 64\n", - "clinical trial, replication: 34\n", - "clinical trial, replication, prospective: 13\n", - "clinical trial, retrospective: 76\n", - "cohort: 6357\n", - "cohort, GWAS: 212\n", - "cohort, GWAS, prospective: 12\n", - "cohort, GWAS, replication: 2\n", - "cohort, GWAS, retrospective: 16\n", - "cohort, case series: 2\n", - "cohort, case series, prospective: 2\n", - "cohort, case/control: 69\n", - "cohort, case/control, GWAS: 2\n", - "cohort, case/control, replication: 2\n", - "cohort, case/control, retrospective: 1\n", - "cohort, clinical trial: 167\n", - "cohort, clinical trial, meta-analysis: 4\n", - "cohort, clinical trial, prospective: 6\n", - "cohort, clinical trial, retrospective: 4\n", - "cohort, cross sectional, retrospective: 4\n", - "cohort, linkage: 1\n", - "cohort, meta-analysis: 21\n", - "cohort, meta-analysis, GWAS: 9\n", - "cohort, meta-analysis, retrospective: 1\n", - "cohort, prospective: 275\n", - "cohort, prospective, retrospective: 2\n", - "cohort, replication: 36\n", - "cohort, replication, prospective: 6\n", - "cohort, replication, retrospective: 1\n", - "cohort, retrospective: 348\n", - "cohort, trios: 1\n", - "cross sectional: 19\n", - "cross sectional, retrospective: 2\n", - "linkage: 13\n", - "linkage, trios: 2\n", - "meta-analysis: 543\n", - "meta-analysis, GWAS: 90\n", - "meta-analysis, GWAS, replication: 1\n", - "meta-analysis, GWAS, retrospective: 1\n", - "meta-analysis, replication: 17\n", - "meta-analysis, retrospective: 29\n", - "nan: 1322\n", - "prospective: 270\n", - "prospective, retrospective: 6\n", - "replication: 112\n", - "replication, prospective: 1\n", - "replication, retrospective: 12\n", - "retrospective: 200\n", - "retrospective, linkage, trios: 1\n", - "trios: 9\n" - ] - } - ], - "source": [ - "# sort keys of annotations_by_study_type\n", - "annotations_by_study_type = dict(sorted(annotations_by_study_type.items()))\n", - "\n", - "# print number of annotations in each study type\n", - "for study_type, annotations in annotations_by_study_type.items():\n", - " print(f\"{study_type}: {len(annotations)}\")\n" - ] - }, - { - "cell_type": "code", - "execution_count": 11, - "metadata": {}, - "outputs": [], - "source": [ - "# Save annotations_by_study_type to json\n", - "# with open(\"data/variantAnnotations/exploration/annotations_by_study_type.json\", \"w\") as f:\n", - "# json.dump(annotations_by_study_type, f)" - ] - }, - { - "cell_type": "code", - "execution_count": 64, - "metadata": {}, - "outputs": [], - "source": [ - "annotation_template = {\n", - " \"pmid\": None,\n", - " \"pmcid\": None,\n", - " \"study_parameters\": [],\n", - " \"var_drug_ann\": [],\n", - " \"var_fa_ann\": [],\n", - " \"var_pheno_ann\": [],\n", - "}" - ] - }, - { - "cell_type": "code", - "execution_count": 61, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "13523" - ] - }, - "execution_count": 61, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "len(annotations_by_pmcid)" - ] - }, - { - "cell_type": "code", - "execution_count": 70, - "metadata": {}, - "outputs": [ - { - "name": "stderr", - "output_type": "stream", - "text": [ - "Grouping annotations by PMID: 100%|██████████| 13523/13523 [00:00<00:00, 592464.33it/s]\n" - ] - } - ], - "source": [ - "annotations_pmid_grouped = {}\n", - "for annotation in tqdm(annotations_by_pmcid, desc=\"Grouping annotations by PMID\"):\n", - " annotation_pmcid = annotation[\"pmid\"]\n", - " if pd.isna(annotation_pmcid):\n", - " annotation_pmcid = \"nan\"\n", - " if annotation_pmcid not in annotations_pmid_grouped:\n", - " annotations_pmid_grouped[annotation_pmcid] = {\n", - " \"pmid\": None,\n", - " \"pmcid\": None,\n", - " \"study_parameters\": [],\n", - " \"var_drug_ann\": [],\n", - " \"var_fa_ann\": [],\n", - " \"var_pheno_ann\": [],\n", - " }\n", - " annotations_pmid_grouped[annotation_pmcid][\"pmid\"] = annotation.get(\"pmid\", None)\n", - " annotations_pmid_grouped[annotation_pmcid][\"pmcid\"] = annotation.get(\"pmcid\", None)\n", - " annotations_pmid_grouped[annotation_pmcid][\"study_parameters\"].append(annotation.get(\"study_parameters\", None))\n", - " annotations_pmid_grouped[annotation_pmcid][\"var_drug_ann\"].extend(annotation.get(\"var_drug_ann\", []))\n", - " annotations_pmid_grouped[annotation_pmcid][\"var_fa_ann\"].extend(annotation.get(\"var_fa_ann\", []))\n", - " annotations_pmid_grouped[annotation_pmcid][\"var_pheno_ann\"].extend(annotation.get(\"var_pheno_ann\", []))\n" - ] - }, - { - "cell_type": "code", - "execution_count": 76, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "{'pmid': 29238301,\n", - " 'pmcid': 'PMC5712579',\n", - " 'study_parameters': [{'Study Parameters ID': 1449169927,\n", - " 'Variant Annotation ID': 1449169911,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 15.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'SCAR, MPE, SJS (cases and controls)',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.06,\n", - " 'Allele Of Frequency In Cases': '*35:08',\n", - " 'Frequency In Controls': 0.001,\n", - " 'Allele Of Frequency In Controls': '*35:08',\n", - " 'P Value': '= 0.231',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 10.45,\n", - " 'Confidence Interval Start': 0.4,\n", - " 'Confidence Interval Stop': 270.41,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " {'Study Parameters ID': 1449170027,\n", - " 'Variant Annotation ID': 1449169930,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 15.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'SCAR, MPE or SJS (cases and controls)',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.13,\n", - " 'Allele Of Frequency In Cases': '*39:01',\n", - " 'Frequency In Controls': 0.02,\n", - " 'Allele Of Frequency In Controls': '*39:01',\n", - " 'P Value': '= 0.131',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 7.54,\n", - " 'Confidence Interval Start': 0.63,\n", - " 'Confidence Interval Stop': 89.76,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " {'Study Parameters ID': 1449169870,\n", - " 'Variant Annotation ID': 1449169849,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 10.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'LTG-induced MPE (cases and controls)',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.5,\n", - " 'Allele Of Frequency In Cases': '*15:02',\n", - " 'Frequency In Controls': 0.12,\n", - " 'Allele Of Frequency In Controls': '*15:02',\n", - " 'P Value': '= 0.005',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 7.33,\n", - " 'Confidence Interval Start': 1.63,\n", - " 'Confidence Interval Stop': 33.02,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " {'Study Parameters ID': 1449169858,\n", - " 'Variant Annotation ID': 1449169849,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 15.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'LTG-induced SCAR, SJS, MPE (cases and controls)',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.024,\n", - " 'Allele Of Frequency In Cases': '*15:02',\n", - " 'Frequency In Controls': 0.12,\n", - " 'Allele Of Frequency In Controls': '*15:02',\n", - " 'P Value': '= 0.04',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 4.89,\n", - " 'Confidence Interval Start': 1.28,\n", - " 'Confidence Interval Stop': 18.66,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " {'Study Parameters ID': 1449170040,\n", - " 'Variant Annotation ID': 1449169849,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 5.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'LTG-induced SCAR',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.2,\n", - " 'Allele Of Frequency In Cases': '*15:02',\n", - " 'Frequency In Controls': 0.12,\n", - " 'Allele Of Frequency In Controls': '*15:02',\n", - " 'P Value': '= 0.508',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 1.83,\n", - " 'Confidence Interval Start': 0.18,\n", - " 'Confidence Interval Stop': 19.25,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " {'Study Parameters ID': 1449169905,\n", - " 'Variant Annotation ID': 1449169896,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 10.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'LTG-induced MPE (cases and controls)',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.3,\n", - " 'Allele Of Frequency In Cases': '*44:03',\n", - " 'Frequency In Controls': 0.04,\n", - " 'Allele Of Frequency In Controls': '*44:03',\n", - " 'P Value': '= 0.029',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 10.29,\n", - " 'Confidence Interval Start': 1.45,\n", - " 'Confidence Interval Stop': 72.81,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " {'Study Parameters ID': 1449169842,\n", - " 'Variant Annotation ID': 1449169831,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 15.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'LTG-induced SCAR, SJS or MPE (cases and controls)',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.33,\n", - " 'Allele Of Frequency In Cases': '*02:07',\n", - " 'Frequency In Controls': 0.06,\n", - " 'Allele Of Frequency In Controls': '*02:07',\n", - " 'P Value': '= 0.013',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 7.83,\n", - " 'Confidence Interval Start': 1.6,\n", - " 'Confidence Interval Stop': 38.25,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " {'Study Parameters ID': 1449170031,\n", - " 'Variant Annotation ID': 1449169831,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 10.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'LTG-induced MPE',\n", - " 'Characteristics Type': 'Drug',\n", - " 'Frequency In Cases': 0.3,\n", - " 'Allele Of Frequency In Cases': '*02:07',\n", - " 'Frequency In Controls': 0.06,\n", - " 'Allele Of Frequency In Controls': '*02:07',\n", - " 'P Value': '= 0.052',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 6.71,\n", - " 'Confidence Interval Start': 1.13,\n", - " 'Confidence Interval Stop': 40.07,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " {'Study Parameters ID': 1449170033,\n", - " 'Variant Annotation ID': 1449169831,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 5.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'LTG-induced SCAR',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.4,\n", - " 'Allele Of Frequency In Cases': '*02:07',\n", - " 'Frequency In Controls': 0.22,\n", - " 'Allele Of Frequency In Controls': '*02:07',\n", - " 'P Value': '= 0.060',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 10.44,\n", - " 'Confidence Interval Start': 1.23,\n", - " 'Confidence Interval Stop': 88.44,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " {'Study Parameters ID': 1449169890,\n", - " 'Variant Annotation ID': 1449169878,\n", - " 'Study Type': 'case series',\n", - " 'Study Cases': 10.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'LTG-induced MPE (cases and controls)',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.7,\n", - " 'Allele Of Frequency In Cases': '*33:03',\n", - " 'Frequency In Controls': 0.22,\n", - " 'Allele Of Frequency In Controls': '*33:03',\n", - " 'P Value': '= 0.005',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 8.27,\n", - " 'Confidence Interval Start': 1.83,\n", - " 'Confidence Interval Stop': 37.41,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301},\n", - " {'Study Parameters ID': 1449170038,\n", - " 'Variant Annotation ID': 1449169878,\n", - " 'Study Type': 'case/control',\n", - " 'Study Cases': 5.0,\n", - " 'Study Controls': 50.0,\n", - " 'Characteristics': 'LTG-induced SCAR',\n", - " 'Characteristics Type': 'Disease',\n", - " 'Frequency In Cases': 0.0,\n", - " 'Allele Of Frequency In Cases': '*33:03',\n", - " 'Frequency In Controls': 0.22,\n", - " 'Allele Of Frequency In Controls': '*33:03',\n", - " 'P Value': '= 0.570',\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': 0.31,\n", - " 'Confidence Interval Start': 0.02,\n", - " 'Confidence Interval Stop': 6.08,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 29238301}],\n", - " 'var_drug_ann': [],\n", - " 'var_fa_ann': [],\n", - " 'var_pheno_ann': [{'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169911,\n", - " 'Variant/Haplotypes': 'HLA-B*35:08',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (1/15) and controls (individuals without AEs who took lamotrigine) (0/50). The allele was significant when comparing between cases (1/15) and the general population (1/986).',\n", - " 'Sentence': 'HLA-B *35:08 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*35:08',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169930,\n", - " 'Variant/Haplotypes': 'HLA-B*39:01',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'no',\n", - " 'Notes': 'The allele was not significant when comparing allele frequency in cases of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome (SJS) and Maculopapular Exanthema (MPE) (2/15) and controls (controls were individuals without AEs who took lamotrigine)(1/50) both on lamotrigine.',\n", - " 'Sentence': 'HLA-B *39:01 is not associated with likelihood of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*39:01',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169849,\n", - " 'Variant/Haplotypes': 'HLA-B*15:02',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was a significant difference in allele frequency when comparing incidence of LTG-induced severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE) and controls (individuals without AEs who took lamotrigine). There was also a significant difference when only considering MPE. The allele was more frequent in cases of MPE (6/15) than in controls (6/50).',\n", - " 'Sentence': 'HLA-B *15:02 is associated with increased likelihood of Maculopapular Exanthema or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*15:02',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Side Effect:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169896,\n", - " 'Variant/Haplotypes': 'HLA-B*44:03',\n", - " 'Gene': 'HLA-B',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was significantly different when comparing between cases of LTG-induced MPE (3/10) and controls (individuals without AEs who took lamotrigine) (2/50).',\n", - " 'Sentence': 'HLA-B *44:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*44:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169831,\n", - " 'Variant/Haplotypes': 'HLA-A*02:07',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'The allele was more frequent in cases (5/15) than in controls (3/50). The allele was only significant when the authors group together severe cutaneous adverse reactions (SCAR), Stevens-Johnson Syndrome or Maculopapular Exanthema (MPE). The allele was not significantly associated with MPE, SCAR or SJS alone.',\n", - " 'Sentence': 'HLA-A *02:07 is associated with increased risk of Maculopapular Exanthema, severe cutaneous adverse reactions or Stevens-Johnson Syndrome when treated with lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*02:07',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'risk of',\n", - " 'Phenotype': 'Side Effect:Maculopapular Exanthema, Side Effect:Severe Cutaneous Adverse Reactions, Side Effect:Stevens-Johnson Syndrome',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1449169878,\n", - " 'Variant/Haplotypes': 'HLA-A*33:03',\n", - " 'Gene': 'HLA-A',\n", - " 'Drug(s)': 'lamotrigine',\n", - " 'PMID': 29238301,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': 'There was no significant difference in allele frequency when comparing between individuals who experienced lamotrigine induced severe cutaneous adverse reactions (SCAR), maculopapular exanethema (MPE), or Stevens Johnson Syndrome (SJS) (7/15) versus controls (took lamotrigine without AEs) (11/50) but was significant when comparing cases of LTG-induced MPE (7/10) and controls (11/50). It was not associated with SCAR.',\n", - " 'Sentence': 'HLA-A *33:03 is associated with increased likelihood of Maculopapular Exanthema when exposed to lamotrigine in people with Epilepsy.',\n", - " 'Alleles': '*33:03',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'likelihood of',\n", - " 'Phenotype': 'Disease:Maculopapular Exanthema',\n", - " 'Multiple phenotypes And/or': 'or',\n", - " 'When treated with/exposed to/when assayed with': 'when exposed to',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Disease:Epilepsy',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan}]}" - ] - }, - "execution_count": 76, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "annotations_pmid_grouped[29238301]" - ] - }, - { - "cell_type": "code", - "execution_count": 77, - "metadata": {}, - "outputs": [], - "source": [ - "# Save annotations_pmid_grouped to json\n", - "with open(\"data/variantAnnotations/exploration/annotations_pmid_grouped_2.json\", \"w\") as f:\n", - " json.dump(annotations_pmid_grouped, f, indent=2)\n" - ] - }, - { - "cell_type": "code", - "execution_count": 18, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "Number of pmids in annotations_pmid_grouped: 2864\n", - "Number of pmids in annotations_by_pmcid: 13523\n", - "Number of pmids in annotations_by_pmcid: 13523\n" - ] - } - ], - "source": [ - "# Check number of pmids in annotations_pmid_grouped\n", - "print(f\"Number of pmids in annotations_pmid_grouped: {len(annotations_pmid_grouped)}\")\n", - "# Check number of pmids in annotations_by_pmcid\n", - "print(f\"Number of pmids in annotations_by_pmcid: {len(annotations_by_pmcid)}\")\n", - "# Check number of pmids in annotations_by_pmcid\n", - "print(f\"Number of pmids in annotations_by_pmcid: {len(annotations_by_pmcid)}\")\n" - ] - }, - { - "cell_type": "code", - "execution_count": 22, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "{'pmid': 39528547,\n", - " 'pmcid': 'PMC11554802',\n", - " 'title': 'Efficacy and safety of sacituzumab govitecan Trop-2-targeted antibody-drug conjugate in solid tumors and UGT1A1*28 polymorphism: a systematic review and meta-analysis',\n", - " 'study_parameters': {'Study Parameters ID': 1453086511,\n", - " 'Variant Annotation ID': 1453086503,\n", - " 'Study Type': 'meta-analysis',\n", - " 'Study Cases': 1138.0,\n", - " 'Study Controls': nan,\n", - " 'Characteristics': 'Grade 3/4 Neutropenia, 5 studies',\n", - " 'Characteristics Type': 'Study Cohort',\n", - " 'Frequency In Cases': nan,\n", - " 'Allele Of Frequency In Cases': nan,\n", - " 'Frequency In Controls': nan,\n", - " 'Allele Of Frequency In Controls': nan,\n", - " 'P Value': '= 0.05',\n", - " 'Ratio Stat Type': nan,\n", - " 'Ratio Stat': nan,\n", - " 'Confidence Interval Start': nan,\n", - " 'Confidence Interval Stop': nan,\n", - " 'Biogeographical Groups': 'Multiple groups',\n", - " 'PMID': 39528547},\n", - " 'var_drug_ann': [],\n", - " 'var_fa_ann': [],\n", - " 'var_pheno_ann': [{'Variant Annotation ID': 1453086503,\n", - " 'Variant/Haplotypes': 'UGT1A1*1, UGT1A1*28',\n", - " 'Gene': 'UGT1A1',\n", - " 'Drug(s)': 'sacituzumab govitecan',\n", - " 'PMID': 39528547,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'yes',\n", - " 'Notes': '\"Genotype-specific analyses revealed higher incidence of grade 3–4 neutropenia in patients with heterozygous and homozygous variant genotypes versus wild type group. Severe neutropenia occurred in 67% of homozygous carriers versus 44% from wild type and 50% from heterozygous groups respectively (P\\u2009=\\u20090.05, Supplementary Table 3). \"',\n", - " 'Sentence': 'UGT1A1 *1/*28 + *28/*28 is associated with increased severity of Neutropenia when treated with sacituzumab govitecan in people with Breast Neoplasms as compared to UGT1A1 *1/*1.',\n", - " 'Alleles': '*1/*28 + *28/*28',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': nan,\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': 'increased',\n", - " 'Side effect/efficacy/other': 'severity of',\n", - " 'Phenotype': 'Side Effect:Neutropenia',\n", - " 'Multiple phenotypes And/or': nan,\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': 'in people with',\n", - " 'Population Phenotypes or diseases': 'Other:Breast Neoplasms',\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': '*1/*1',\n", - " 'Comparison Metabolizer types': nan}]}" - ] - }, - "execution_count": 22, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "annotations_by_pmcid[0]" - ] - }, - { - "cell_type": "code", - "execution_count": 23, - "metadata": {}, - "outputs": [], - "source": [ - "sorted_annotations_by_pmcid = sorted(annotations_by_pmcid, key=lambda x: x[\"pmid\"])" - ] - }, - { - "cell_type": "code", - "execution_count": 31, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "{'pmid': 990860,\n", - " 'pmcid': 'PMC1689719',\n", - " 'title': 'Drug-induced haemolysis in glucose-6-phosphate dehydrogenase deficiency',\n", - " 'study_parameters': {'Study Parameters ID': 1184521221,\n", - " 'Variant Annotation ID': 1184521219,\n", - " 'Study Type': 'cohort',\n", - " 'Study Cases': 8.0,\n", - " 'Study Controls': nan,\n", - " 'Characteristics': 'Red blood cells from G6PD deficient individuals classified as having the Canton variant or Hong Kong-Pokfulam variant.',\n", - " 'Characteristics Type': 'Study Cohort',\n", - " 'Frequency In Cases': nan,\n", - " 'Allele Of Frequency In Cases': nan,\n", - " 'Frequency In Controls': nan,\n", - " 'Allele Of Frequency In Controls': nan,\n", - " 'P Value': nan,\n", - " 'Ratio Stat Type': 'OR',\n", - " 'Ratio Stat': nan,\n", - " 'Confidence Interval Start': nan,\n", - " 'Confidence Interval Stop': nan,\n", - " 'Biogeographical Groups': 'East Asian',\n", - " 'PMID': 990860},\n", - " 'var_drug_ann': [],\n", - " 'var_fa_ann': [],\n", - " 'var_pheno_ann': [{'Variant Annotation ID': 1184521237,\n", - " 'Variant/Haplotypes': 'G6PD deficiency',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'phenytoin',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment- drug treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD deficiency is not associated with Hemolysis when treated with phenytoin.',\n", - " 'Alleles': nan,\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184519163,\n", - " 'Variant/Haplotypes': 'G6PD deficiency',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'primaquine',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from 10 G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment. Primaquine treatment was associated with decreased half life in all cases, shortening it to 3-5 days. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD deficiency is associated with Hemolysis when treated with primaquine.',\n", - " 'Alleles': nan,\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521196,\n", - " 'Variant/Haplotypes': 'G6PD deficiency',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'chloramphenicol',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment- drug treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD deficiency is not associated with Hemolysis when treated with chloramphenicol.',\n", - " 'Alleles': nan,\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521202,\n", - " 'Variant/Haplotypes': 'G6PD deficiency',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'aminosalicylic acid, isoniazid, streptomycin',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment- drug treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*. 4-Aminosalicylic acid = PAS.',\n", - " 'Sentence': 'G6PD deficiency is not associated with Hemolysis when treated with aminosalicylic acid, isoniazid or streptomycin.',\n", - " 'Alleles': nan,\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': 'or',\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521224,\n", - " 'Variant/Haplotypes': 'G6PD deficiency',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'levodopa',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment- drug treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD deficiency is not associated with Hemolysis when treated with levodopa.',\n", - " 'Alleles': nan,\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521219,\n", - " 'Variant/Haplotypes': 'G6PD deficiency',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'trimethoprim',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment- drug treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD deficiency is not associated with Hemolysis when treated with trimethoprim.',\n", - " 'Alleles': nan,\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521208,\n", - " 'Variant/Haplotypes': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'menadione sodium bisulfite',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment- menaphthone sodium bisulphite (Hykinone) treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like (assigned as deficiency phenotype) is not associated with Hemolysis when treated with menadione sodium bisulfite.',\n", - " 'Alleles': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521229,\n", - " 'Variant/Haplotypes': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'trihexyphenidyl',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment- benzhexol treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like (assigned as deficiency phenotype) is not associated with Hemolysis when treated with trihexyphenidyl.',\n", - " 'Alleles': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521141,\n", - " 'Variant/Haplotypes': 'G6PD deficiency',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'sulfamethoxazole',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'in some but not all cases. Red blood cells from 12 G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment. Only in 4 cases was the half life shortened by sulphamethoxazole treatment. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD deficiency is associated with Hemolysis when treated with sulfamethoxazole.',\n", - " 'Alleles': nan,\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521135,\n", - " 'Variant/Haplotypes': 'G6PD deficiency',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'nitrofurantoin',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from 3 G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment. Nitrofurantoin treatment was associated with decreased half life in all cases, shortening it to 4-14 days. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD deficiency is associated with Hemolysis when treated with nitrofurantoin.',\n", - " 'Alleles': nan,\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521157,\n", - " 'Variant/Haplotypes': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'proguanil',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from a G6PD deficient patient were labelled with 51-Cr and cross-transfused into a G6PD-normal male recipient. The half-life of these labelled red blood cells was determined before and after drug treatment- drug treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like (assigned as deficiency phenotype) is not associated with Hemolysis when treated with proguanil.',\n", - " 'Alleles': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521147,\n", - " 'Variant/Haplotypes': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'chloroquine',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from a G6PD deficient patient were labelled with 51-Cr and cross-transfused into a G6PD-normal male recipient. The half-life of these labelled red blood cells was determined before and after drug treatment- drug treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like (assigned as deficiency phenotype) is not associated with Hemolysis when treated with chloroquine.',\n", - " 'Alleles': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521173,\n", - " 'Variant/Haplotypes': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'phenylbutazone',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment- drug treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like (assigned as deficiency phenotype) is not associated with Hemolysis when treated with phenylbutazone.',\n", - " 'Alleles': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521162,\n", - " 'Variant/Haplotypes': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'pyrimethamine',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from a G6PD deficient patient were labelled with 51-Cr and cross-transfused into a G6PD-normal male recipient. The half-life of these labelled red blood cells was determined before and after drug treatment- drug treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like (assigned as deficiency phenotype) is not associated with Hemolysis when treated with pyrimethamine.',\n", - " 'Alleles': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521179,\n", - " 'Variant/Haplotypes': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'colchicine, probenecid',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from G6PD deficient patients were labelled with 51-Cr and cross-transfused into G6PD-normal male recipients. The half-life of these labelled red blood cells was determined before and after drug treatment- drug treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like (assigned as deficiency phenotype) is not associated with Hemolysis when treated with colchicine or probenecid.',\n", - " 'Alleles': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': 'or',\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan},\n", - " {'Variant Annotation ID': 1184521167,\n", - " 'Variant/Haplotypes': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Gene': 'G6PD',\n", - " 'Drug(s)': 'acetaminophen',\n", - " 'PMID': 990860,\n", - " 'Phenotype Category': 'Toxicity',\n", - " 'Significance': 'not stated',\n", - " 'Notes': 'Red blood cells from a G6PD deficient patient were labelled with 51-Cr and cross-transfused into a G6PD-normal male recipient. The half-life of these labelled red blood cells was determined before and after drug treatment- paracetamol treatment was not associated with decreased half life. *Note: genotyping to determine underlying G6PD deficient variant was not carried out*.',\n", - " 'Sentence': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like (assigned as deficiency phenotype) is not associated with Hemolysis when treated with acetaminophen.',\n", - " 'Alleles': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'Specialty Population': nan,\n", - " 'Metabolizer types': 'deficiency',\n", - " 'isPlural': 'Is',\n", - " 'Is/Is Not associated': 'Not associated with',\n", - " 'Direction of effect': nan,\n", - " 'Side effect/efficacy/other': nan,\n", - " 'Phenotype': 'Side Effect:Hemolysis',\n", - " 'Multiple phenotypes And/or': 'and',\n", - " 'When treated with/exposed to/when assayed with': 'when treated with',\n", - " 'Multiple drugs And/or': nan,\n", - " 'Population types': nan,\n", - " 'Population Phenotypes or diseases': nan,\n", - " 'Multiple phenotypes or diseases And/or': nan,\n", - " 'Comparison Allele(s) or Genotype(s)': nan,\n", - " 'Comparison Metabolizer types': nan}]}" - ] - }, - "execution_count": 31, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "sorted_annotations_by_pmcid[5]" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "metadata": {}, - "outputs": [], - "source": [] - } - ], - "metadata": { - "kernelspec": { - "display_name": "default", - "language": "python", - "name": "python3" - }, - "language_info": { - "codemirror_mode": { - "name": "ipython", - "version": 3 - }, - "file_extension": ".py", - "mimetype": "text/x-python", - "name": "python", - "nbconvert_exporter": "python", - "pygments_lexer": "ipython3", - "version": "3.13.3" - } - }, - "nbformat": 4, - "nbformat_minor": 2 -} diff --git a/notebooks/fuser_nb.ipynb b/notebooks/fuser_nb.ipynb deleted file mode 100644 index 7cea17f..0000000 --- a/notebooks/fuser_nb.ipynb +++ /dev/null @@ -1,139 +0,0 @@ -{ - "cells": [ - { - "cell_type": "code", - "execution_count": 7, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "The autoreload extension is already loaded. To reload it, use:\n", - " %reload_ext autoreload\n", - "/Users/shloknatarajan/stanford/research/daneshjou/AutoGKB\n" - ] - } - ], - "source": [ - "# Notebook Setup\n", - "# Run this cell: \n", - "# The lines below will instruct jupyter to reload imported modules before \n", - "# executing code cells. This enables you to quickly iterate and test revisions\n", - "# to your code without having to restart the kernel and reload all of your \n", - "# modules each time you make a code change in a separate python file.\n", - "\n", - "%load_ext autoreload\n", - "%autoreload 2\n", - "\n", - "import os\n", - "\n", - "# Change path to project root\n", - "if os.getcwd().endswith(\"notebooks\"):\n", - " os.chdir(os.path.dirname(os.getcwd()))\n", - "print(os.getcwd())" - ] - }, - { - "cell_type": "markdown", - "metadata": {}, - "source": [ - "# Testing / Debugging the Fuser Module\n", - "Goal is to have generators output many possible samples (JSON) and the Fusers are used to either: \n", - "- Merge into one response\n", - "- Merge into a reasonable set of responses (mostly deduplication and outlier/weirdness removing)\n", - "- Merge into a set that is majority vote / somewhat rule inclined" - ] - }, - { - "cell_type": "code", - "execution_count": 43, - "metadata": {}, - "outputs": [], - "source": [ - "from src.inference import Generator, Fuser\n", - "from pydantic import BaseModel\n", - "from typing import List" - ] - }, - { - "cell_type": "code", - "execution_count": 44, - "metadata": {}, - "outputs": [], - "source": [ - "class StockPrice(BaseModel):\n", - " ticker: str\n", - " price: float\n", - "\n", - "class StockPriceList(BaseModel):\n", - " stock_prices: List[StockPrice]" - ] - }, - { - "cell_type": "code", - "execution_count": 59, - "metadata": {}, - "outputs": [ - { - "name": "stderr", - "output_type": "stream", - "text": [ - "Generating 10 Responses: 0%| | 0/10 [00:00 drug relationship in the list output the following:\n", - "Pair: The (variant, drug(s)) pair\n", - "Variant: The Variant / Haplotypes (ex. rs2909451, CYP2C19*1, CYP2C19*2, *1/*18, etc.)\n", - "Gene: The gene group of the variant (ex. DPP4, CYP2C19, KCNJ11, etc.)\n", - "Allele: Specific allele or genotype if different from variant (ex. TT, *1/*18, del/del, etc.)\n", - "Relationship Description: Describe the drug(s) in this relationship\n", - "Variant Effect: Describe the outcome/effect found from the variant (drug efficacy, metabolism, toxicity, dosage, etc.)\n", - "Statistical Analysis: Describe the statistical analysis used and the reported p-values\n", - "Population Info: Describe the population of the study participants for this variant\n", - "Notes: Describe any other useful information included on this variant to understanding the study results.\n", - "\n", - "These 9 attributes should be separately repeated for every distinct (variant, drug(s)) relationship. For every attribute,\n", - "include the information as well as a quote from the article the information was concluded from.\n", - "\"\"\"" - ] - }, - { - "cell_type": "code", - "execution_count": 13, - "metadata": {}, - "outputs": [], - "source": [ - "VARIANT_LIST_PROMPT = \"\"\"\n", - "You are an expert pharmacogenomics researcher reading and extracting annotations from the following article:\n", - "\n", - "{article_text}\n", - "\n", - "From this article, note down ALL discussed variants/haplotypes (ex. rs113993960, CYP1A1*1, etc.). Include information on the gene group and allele (if present). Your output format should be a list of the variants with the following attributes:\n", - "Variant: The Variant / Haplotypes (ex. rs2909451, CYP2C19*1, CYP2C19*2, *1/*18, etc.)\n", - "Gene: The gene group of the variant (ex. DPP4, CYP2C19, KCNJ11, etc.)\n", - "Allele: Specific allele or genotype if different from variant (ex. TT, *1/*18, del/del, etc.)\n", - "\"\"\"" - ] - }, - { - "cell_type": "code", - "execution_count": 23, - "metadata": {}, - "outputs": [], - "source": [ - "from dotenv import load_dotenv\n", - "load_dotenv()\n", - "from src.inference import VariantList, Variant\n", - "import json\n", - "from loguru import logger\n", - "from src.utils import save_output\n", - "from src.all_variants import extract_all_variants\n" - ] - }, - { - "cell_type": "code", - "execution_count": 24, - "metadata": {}, - "outputs": [ - { - "name": "stderr", - "output_type": "stream", - "text": [ - "\u001b[32m2025-06-14 14:32:19.229\u001b[0m | \u001b[1mINFO \u001b[0m | \u001b[36msrc.annotation_extraction.article_parser\u001b[0m:\u001b[36m__init__\u001b[0m:\u001b[36m32\u001b[0m - \u001b[1mGetting article text from PMCID: PMC11730665\u001b[0m\n", - "\u001b[32m2025-06-14 14:32:19.232\u001b[0m | \u001b[1mINFO \u001b[0m | \u001b[36msrc.annotation_extraction.article_parser\u001b[0m:\u001b[36mremove_references_section\u001b[0m:\u001b[36m79\u001b[0m - \u001b[1mRemoved References section from article text\u001b[0m\n" - ] - } - ], - "source": [ - "variant_list = extract_all_variants(pmcid=\"PMC11730665\")" - ] - }, - { - "cell_type": "code", - "execution_count": 177, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "[{'variant_id': 'rs2909451', 'gene': 'DPP4', 'allele': 'TT'},\n", - " {'variant_id': 'rs4664443', 'gene': 'DPP4', 'allele': 'GG'},\n", - " {'variant_id': 'rs3765467', 'gene': 'GLP1R', 'allele': 'AG'},\n", - " {'variant_id': 'rs2285676', 'gene': 'KCNJ11', 'allele': 'CC'},\n", - " {'variant_id': 'rs163184', 'gene': 'KCNQ1', 'allele': 'GG'},\n", - " {'variant_id': 'rs7754840', 'gene': 'CDKAL1', 'allele': 'CG'},\n", - " {'variant_id': 'rs756992', 'gene': 'CDKAL1', 'allele': 'AG'},\n", - " {'variant_id': 'rs1799853', 'gene': 'CYP2C9', 'allele': 'TT'},\n", - " {'variant_id': 'rs1057910', 'gene': 'CYP2C9', 'allele': 'GG'}]" - ] - }, - "execution_count": 177, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "variant_list" - ] - }, - { - "cell_type": "code", - "execution_count": 25, - "metadata": {}, - "outputs": [], - "source": [ - "pmcid_grouped = json.load(open(\"data/variantAnnotations/annotations_by_pmcid.json\"))\n", - "true_variant_list = {}\n", - "for paper in pmcid_grouped:\n", - " variants = []\n", - " variants.extend(paper['var_drug_ann'])\n", - " variants.extend(paper['var_pheno_ann'])\n", - " variants.extend(paper['var_fa_ann'])\n", - " pmcid = paper['pmcid']\n", - " variant_list = []\n", - " for variant in variants:\n", - " gene = variant['Gene']\n", - " variant_id = variant['Variant/Haplotypes']\n", - " allele = variant['Alleles']\n", - " try:\n", - " parsed_variant = Variant(variant_id=variant_id, gene=gene, allele=allele)\n", - " variant_list.append(parsed_variant)\n", - " except Exception as e:\n", - " logger.error(f\"Error parsing variant {variant_id} for PMCID {pmcid}: {e}\")\n", - " logger.error(f\"Variant ID: {variant_id}\")\n", - " logger.error(f\"Gene: {gene}\")\n", - " logger.error(f\"Allele: {allele}\")\n", - " true_variant_list[pmcid] = variant_list" - ] - }, - { - "cell_type": "code", - "execution_count": 207, - "metadata": {}, - "outputs": [], - "source": [ - "true_variant_list_json = {}\n", - "for key in true_variant_list:\n", - " true_variant_list_json[key] = []\n", - " for variant in true_variant_list[key]:\n", - " true_variant_list_json[key].append(variant.model_dump())" - ] - }, - { - "cell_type": "code", - "execution_count": 208, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "{'PMC5712579': [{'variant_id': 'HLA-B*35:08',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*35:08'},\n", - " {'variant_id': 'HLA-B*39:01', 'gene': 'HLA-B', 'allele': '*39:01'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*44:03', 'gene': 'HLA-B', 'allele': '*44:03'},\n", - " {'variant_id': 'HLA-A*02:07', 'gene': 'HLA-A', 'allele': '*02:07'},\n", - " {'variant_id': 'HLA-A*33:03', 'gene': 'HLA-A', 'allele': '*33:03'}],\n", - " 'PMC3202555': [{'variant_id': 'rs1801272',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': 'AA + AT'},\n", - " {'variant_id': 'rs1801272', 'gene': 'CYP2A6', 'allele': 'AT + TT'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*12', 'gene': 'CYP2A6', 'allele': '*12'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*1x2', 'gene': 'CYP2A6', 'allele': '*1x2'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*9', 'gene': 'CYP2B6', 'allele': '*9'},\n", - " {'variant_id': 'rs28399433', 'gene': 'CYP2A6', 'allele': 'A'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*4', 'gene': 'CYP2B6', 'allele': '*4'},\n", - " {'variant_id': 'rs8192789', 'gene': 'CYP2A13', 'allele': 'T'},\n", - " {'variant_id': 'rs1709083', 'gene': 'CYP2A13', 'allele': 'G'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*4',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*1/*4 + *4/*4'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*12', 'gene': 'CYP2A6', 'allele': '*1/*1'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*9', 'gene': 'CYP2B6', 'allele': '*9'},\n", - " {'variant_id': 'rs72552266', 'gene': 'CYP2A13', 'allele': 'T'},\n", - " {'variant_id': 'rs578776', 'gene': 'CHRNA3', 'allele': 'A'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*1x2',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*1x2'},\n", - " {'variant_id': 'rs6311', 'gene': 'HTR2A', 'allele': 'C'},\n", - " {'variant_id': 'rs6928499', 'gene': 'CNR1', 'allele': 'G'},\n", - " {'variant_id': 'rs72552266', 'gene': 'CYP2A13', 'allele': 'CT'},\n", - " {'variant_id': 'rs8192789', 'gene': 'CYP2A13', 'allele': 'T'},\n", - " {'variant_id': 'rs16969968', 'gene': 'CHRNA5', 'allele': 'A'},\n", - " {'variant_id': 'rs1709083', 'gene': 'CYP2A13', 'allele': 'CG'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1800497', 'gene': 'ANKK1, DRD2', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs28399433', 'gene': 'CYP2A6', 'allele': 'CC'},\n", - " {'variant_id': 'rs6311', 'gene': 'HTR2A', 'allele': 'C'},\n", - " {'variant_id': 'rs148044792', 'gene': 'CYP2A13', 'allele': 'A'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1800497', 'gene': 'ANKK1, DRD2', 'allele': 'A'},\n", - " {'variant_id': 'rs6928499', 'gene': 'CNR1', 'allele': 'G'},\n", - " {'variant_id': 'rs148044792', 'gene': 'CYP2A13', 'allele': 'A'},\n", - " {'variant_id': 'rs16969968', 'gene': 'CHRNA5', 'allele': 'A'},\n", - " {'variant_id': 'rs578776', 'gene': 'CHRNA3', 'allele': 'A'}],\n", - " 'PMC11554802': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'}],\n", - " 'PMC9261480': [{'variant_id': 'ABCB1 intermediate activity',\n", - " 'gene': 'ABCB1',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP3A4 poor metabolizer', 'gene': 'CYP3A4', 'allele': None}],\n", - " 'PMC11954185': [{'variant_id': 'HLA-A*02:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*02:01'}],\n", - " 'PMC11936550': [{'variant_id': 'rs2279343',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs2279344', 'gene': 'CYP2B6', 'allele': 'AA + AG'}],\n", - " 'PMC6016699': [{'variant_id': 'rs804290', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs4840579', 'gene': 'GATA4', 'allele': 'C'},\n", - " {'variant_id': 'rs17153694', 'gene': 'GATA4', 'allele': 'T'},\n", - " {'variant_id': 'rs867858', 'gene': 'GATA4', 'allele': 'C'},\n", - " {'variant_id': 'rs11250159', 'gene': 'GATA4', 'allele': 'T'},\n", - " {'variant_id': 'rs12550668', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs2898292', 'gene': 'GATA4', 'allele': 'C'},\n", - " {'variant_id': 'rs6990313', 'gene': 'GATA4', 'allele': 'T'},\n", - " {'variant_id': 'rs10105409', 'gene': 'GATA4', 'allele': 'C'},\n", - " {'variant_id': 'rs6601604', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs10112596', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs13275657', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs2029969', 'gene': 'GATA4', 'allele': 'G'},\n", - " {'variant_id': 'rs3779664', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs2173117', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs3735814', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs17153698', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs6983129', 'gene': 'GATA4', 'allele': 'C'},\n", - " {'variant_id': 'rs2898295', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs11250163', 'gene': 'GATA4', 'allele': 'C'},\n", - " {'variant_id': 'rs17153747', 'gene': 'GATA4', 'allele': 'C'},\n", - " {'variant_id': 'rs13264774', 'gene': 'GATA4', 'allele': 'T'},\n", - " {'variant_id': 'rs804282', 'gene': 'GATA4', 'allele': 'G'},\n", - " {'variant_id': 'rs13273672', 'gene': 'GATA4', 'allele': 'C'},\n", - " {'variant_id': 'rs804280', 'gene': 'GATA4', 'allele': 'C'},\n", - " {'variant_id': 'rs2740434', 'gene': 'GATA4', 'allele': 'A'},\n", - " {'variant_id': 'rs2645399', 'gene': 'GATA4', 'allele': 'T'},\n", - " {'variant_id': 'rs11784693', 'gene': 'GATA4', 'allele': 'T'},\n", - " {'variant_id': 'rs804283', 'gene': 'GATA4', 'allele': 'G'},\n", - " {'variant_id': 'rs11785481', 'gene': 'GATA4', 'allele': 'T'},\n", - " {'variant_id': 'rs12458', 'gene': 'GATA4', 'allele': 'T'},\n", - " {'variant_id': 'rs3203358', 'gene': 'GATA4', 'allele': 'C'},\n", - " {'variant_id': 'rs3729856', 'gene': 'GATA4', 'allele': 'G'},\n", - " {'variant_id': 'rs1062219', 'gene': 'GATA4', 'allele': 'T'}],\n", - " 'PMC12035587': [{'variant_id': 'NUDT15*3',\n", - " 'gene': 'NUDT15',\n", - " 'allele': '*3/*3'}],\n", - " 'PMC11918719': [{'variant_id': 'HLA-B*15:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:02'}],\n", - " 'PMC3055642': [{'variant_id': 'rs615470', 'gene': 'CHRNA5', 'allele': 'T'},\n", - " {'variant_id': 'rs16969968', 'gene': 'CHRNA5', 'allele': 'A'},\n", - " {'variant_id': 'rs578776', 'gene': 'CHRNA3', 'allele': 'G'},\n", - " {'variant_id': 'rs578776', 'gene': 'CHRNA3', 'allele': 'G'},\n", - " {'variant_id': 'rs684513', 'gene': 'CHRNA5', 'allele': 'G'},\n", - " {'variant_id': 'rs684513', 'gene': 'CHRNA5', 'allele': 'G'},\n", - " {'variant_id': 'rs615470', 'gene': 'CHRNA5', 'allele': 'T'}],\n", - " 'PMC6562837': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2'}],\n", - " 'PMC5491091': [{'variant_id': 'rs8099917',\n", - " 'gene': 'IFNL3, IFNL4',\n", - " 'allele': 'TT'}],\n", - " 'PMC442471': [{'variant_id': 'DPYD deficiency',\n", - " 'gene': 'DPYD',\n", - " 'allele': None},\n", - " {'variant_id': 'DPYD deficiency', 'gene': 'DPYD', 'allele': None}],\n", - " 'PMC11948353': [{'variant_id': 'rs1041983', 'gene': 'NAT2', 'allele': 'T'},\n", - " {'variant_id': 'rs1799931', 'gene': 'NAT2', 'allele': 'A'}],\n", - " 'PMC11120674': [{'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GG'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'}],\n", - " 'PMC8315301': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'}],\n", - " 'PMC9424318': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'}],\n", - " 'PMC5748122': [{'variant_id': 'HLA-B*58:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*58:01'},\n", - " {'variant_id': 'rs3099844', 'gene': 'CYCSP5', 'allele': 'AA + AC'},\n", - " {'variant_id': 'rs2734583', 'gene': None, 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs9263726', 'gene': 'PSORS1C1', 'allele': 'AA + AG'}],\n", - " 'PMC3904554': [{'variant_id': 'CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*6', 'gene': 'CYP2D6', 'allele': '*6/*6'},\n", - " {'variant_id': 'CYP2D6*5', 'gene': 'CYP2D6', 'allele': '*5/*5'},\n", - " {'variant_id': 'CYP2D6*4, CYP2D6*5', 'gene': 'CYP2D6', 'allele': '*4/*5'},\n", - " {'variant_id': 'CYP2D6*4, CYP2D6*7', 'gene': 'CYP2D6', 'allele': '*4/*7'},\n", - " {'variant_id': 'CYP2D6*4, CYP2D6*6', 'gene': 'CYP2D6', 'allele': '*4/*6'},\n", - " {'variant_id': 'CYP2D6*4, CYP2D6*11', 'gene': 'CYP2D6', 'allele': '*4/*11'},\n", - " {'variant_id': 'CYP2D6*3, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*3/*4'},\n", - " {'variant_id': 'CYP2D6*3, CYP2D6*5', 'gene': 'CYP2D6', 'allele': '*3/*5'},\n", - " {'variant_id': 'CYP2D6*6, CYP2D6*7', 'gene': 'CYP2D6', 'allele': '*6/*7'},\n", - " {'variant_id': 'CYP2D6*3, CYP2D6*6', 'gene': 'CYP2D6', 'allele': '*3/*6'},\n", - " {'variant_id': 'CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*7, CYP2D6*11',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*4 + *3/*5 + *3/*6 + *4/*11 + *4/*4 + *4/*5 + *4/*6 + *4/*7 + *5/*5 + *6/*6 + *6/*7'},\n", - " {'variant_id': 'CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*7, CYP2D6*11',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*4 + *3/*5 + *3/*6 + *4/*11 + *4/*4 + *4/*5 + *4/*6 + *4/*7 + *5/*5 + *6/*6 + *6/*7'},\n", - " {'variant_id': 'CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*7, CYP2D6*11',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*4 + *3/*5 + *3/*6 + *4/*11 + *4/*4 + *4/*5 + *4/*6 + *4/*7 + *5/*5 + *6/*6 + *6/*7'}],\n", - " 'PMC3237759': [{'variant_id': 'rs1851426', 'gene': 'CYP3A4', 'allele': 'G'},\n", - " {'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'T'},\n", - " {'variant_id': 'rs2687116', 'gene': 'CYP3A4', 'allele': 'A'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'C'},\n", - " {'variant_id': 'rs2257401', 'gene': 'CYP3A7', 'allele': 'C'},\n", - " {'variant_id': 'rs4646437', 'gene': 'CYP3A4', 'allele': 'G'},\n", - " {'variant_id': 'rs6956344', 'gene': 'CYP3A4', 'allele': 'C'},\n", - " {'variant_id': 'rs2242480', 'gene': 'CYP3A4', 'allele': 'C'}],\n", - " 'PMC2791978': [{'variant_id': 'rs1902023',\n", - " 'gene': 'UGT2B15',\n", - " 'allele': 'AA'}],\n", - " 'PMC3179823': [{'variant_id': 'rs9657182', 'gene': 'IDO1', 'allele': 'CC'},\n", - " {'variant_id': 'rs9657182', 'gene': 'IDO1', 'allele': 'CC'}],\n", - " 'PMC10612355': [{'variant_id': 'rs5751901', 'gene': 'GGT1', 'allele': 'CC'},\n", - " {'variant_id': 'rs2017869', 'gene': 'GGT1', 'allele': 'CC'}],\n", - " 'PMC6710518': [{'variant_id': 'HLA-B*27:05',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*27:05'},\n", - " {'variant_id': 'HLA-B*38:02', 'gene': 'HLA-B', 'allele': '*38:02'},\n", - " {'variant_id': 'HLA-DRB1*08:03', 'gene': 'HLA-DRB1', 'allele': '*08:03'}],\n", - " 'PMC5749368': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'TT'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'TT'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'TT'}],\n", - " 'PMC7586802': [{'variant_id': 'rs1799963', 'gene': 'F2', 'allele': 'A'},\n", - " {'variant_id': 'rs2066865', 'gene': 'FGG', 'allele': 'A'},\n", - " {'variant_id': 'rs6025', 'gene': 'F5', 'allele': 'T'}],\n", - " 'PMC2432489': [{'variant_id': 'rs11188072',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': 'TT'},\n", - " {'variant_id': 'rs12248560', 'gene': 'CYP2C19', 'allele': 'TT'}],\n", - " 'PMC9532634': [{'variant_id': 'rs35599367',\n", - " 'gene': 'CYP3A4',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs4823613', 'gene': 'PPARA', 'allele': 'GG'},\n", - " {'variant_id': 'rs4253728', 'gene': 'PPARA', 'allele': 'GG'},\n", - " {'variant_id': 'rs35599367', 'gene': 'CYP3A4', 'allele': 'AA + AG'}],\n", - " 'PMC7689744': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'}],\n", - " 'PMC3513236': [{'variant_id': 'CYP2D6*1, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*1'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*10', 'gene': 'CYP2D6', 'allele': '*10/*10'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'}],\n", - " 'PMC7274090': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*8, CYP2C19*9',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3 + *8 + *9'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*8, CYP2C19*9',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3 + *8 + *9'},\n", - " {'variant_id': 'CYP2C19*1', 'gene': 'CYP2C19', 'allele': '*1/*1'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*8, CYP2C19*9',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3 + *8 + *9'}],\n", - " 'PMC6379053': [{'variant_id': 'HLA-DQA1*02:01',\n", - " 'gene': 'HLA-DQA1',\n", - " 'allele': '*02:01'},\n", - " {'variant_id': 'HLA-DRB1*07:01', 'gene': 'HLA-DRB1', 'allele': '*07:01'},\n", - " {'variant_id': 'rs2647087', 'gene': None, 'allele': 'C'}],\n", - " 'PMC4181635': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*6 + *6/*6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'}],\n", - " 'PMC3376439': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*3'}],\n", - " 'PMC5591929': [{'variant_id': 'NAT2 intermediate acetylator',\n", - " 'gene': 'NAT2',\n", - " 'allele': None}],\n", - " 'PMC5753614': [{'variant_id': 'rs746071566',\n", - " 'gene': 'NUDT15',\n", - " 'allele': 'GGAGTC'},\n", - " {'variant_id': 'TPMT*1, TPMT*6', 'gene': 'TPMT', 'allele': '*6'},\n", - " {'variant_id': 'TPMT*1, TPMT*3C', 'gene': 'TPMT', 'allele': '*3C'},\n", - " {'variant_id': 'rs116855232', 'gene': 'NUDT15', 'allele': 'T'}],\n", - " 'PMC6699898': [{'variant_id': 'rs1076560', 'gene': 'DRD2', 'allele': 'A'},\n", - " {'variant_id': 'rs12364283', 'gene': 'DRD2', 'allele': 'G'},\n", - " {'variant_id': 'rs2283265', 'gene': 'DRD2', 'allele': 'A'}],\n", - " 'PMC3105036': [{'variant_id': 'rs2125739', 'gene': 'ABCC10', 'allele': 'C'},\n", - " {'variant_id': 'rs9349256', 'gene': 'ABCC10', 'allele': 'G'}],\n", - " 'PMC3640375': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'}],\n", - " 'PMC3793390': [{'variant_id': 'rs11322783',\n", - " 'gene': 'IFNL4',\n", - " 'allele': 'TT/TT'},\n", - " {'variant_id': 'rs11322783', 'gene': 'IFNL4', 'allele': 'TT/TT'},\n", - " {'variant_id': 'rs12979860', 'gene': 'IFNL3, IFNL4', 'allele': 'CC'},\n", - " {'variant_id': 'rs12979860', 'gene': 'IFNL3, IFNL4', 'allele': 'CC'}],\n", - " 'PMC9026289': [{'variant_id': 'rs72552763',\n", - " 'gene': 'SLC22A1',\n", - " 'allele': 'del'}],\n", - " 'PMC1885048': [{'variant_id': 'CYP2D6*1, CYP2D6*4, CYP2D6*5',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*5'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2xN', 'gene': 'CYP2D6', 'allele': '*2xN'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*5', 'gene': 'CYP2D6', 'allele': '*5'}],\n", - " 'PMC3080646': [{'variant_id': 'TPMT*1, TPMT*2, TPMT*3A, TPMT*3C',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*2 + *1/*3A + *1/*3C'},\n", - " {'variant_id': 'rs1127354', 'gene': 'ITPA', 'allele': 'AC'}],\n", - " 'PMC2896757': [{'variant_id': 'TPMT*1, TPMT*3A, TPMT*3C',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*3A + *3A/*3A + *1/*3C + *3C/*3C'},\n", - " {'variant_id': 'TPMT*1, TPMT*3A, TPMT*3C',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*3A + *3A/*3A + *1/*3C + *3C/*3C'},\n", - " {'variant_id': 'TPMT*1, TPMT*3A, TPMT*3C',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*3A + *3A/*3A + *1/*3C + *3C/*3C'},\n", - " {'variant_id': 'TPMT*1, TPMT*3A, TPMT*3C',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*3A + *3A/*3A + *1/*3C + *3C/*3C'}],\n", - " 'PMC3791433': [{'variant_id': 'CYP2D6*1, CYP2D6*4, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*4 + *10/*10'}],\n", - " 'PMC4104276': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17', 'gene': 'CYP2C19', 'allele': '*17'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*8', 'gene': 'CYP2C9', 'allele': '*8'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*9', 'gene': 'CYP2C19', 'allele': '*9'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17', 'gene': 'CYP2C19', 'allele': '*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*17/*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*6', 'gene': 'CYP2B6', 'allele': '*6'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*5', 'gene': 'CYP2B6', 'allele': '*5'},\n", - " {'variant_id': 'rs2069514', 'gene': 'CYP1A2', 'allele': 'A'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17', 'gene': 'CYP2C19', 'allele': '*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*13', 'gene': 'CYP2C19', 'allele': '*13'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'rs2069514', 'gene': 'CYP1A2', 'allele': 'A'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'C'}],\n", - " 'PMC2879626': [{'variant_id': 'CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*4 + *1/*7 + *1/*9 + *4/*4 + *7/*7 + *9/*9'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*4 + *1/*7 + *1/*9 + *4/*4 + *7/*7 + *9/*9'}],\n", - " 'PMC5301237': [{'variant_id': 'rs11322783',\n", - " 'gene': 'IFNL4',\n", - " 'allele': 'TT/TT'},\n", - " {'variant_id': 'rs12979860', 'gene': 'IFNL3, IFNL4', 'allele': 'CC'}],\n", - " 'PMC3698861': [{'variant_id': 'CYP2A6*1, CYP2A6*46',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*46 + *46/*46'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*24, CYP2A6*25, CYP2A6*26, CYP2A6*27, CYP2A6*28, CYP2A6*35',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*2 + *1/*4 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*24, CYP2A6*25, CYP2A6*26, CYP2A6*27, CYP2A6*28, CYP2A6*35, CYP2A6*46',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*2 + *1/*4 + *1/*9 + *1/*12 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*24, CYP2A6*25, CYP2A6*26, CYP2A6*27, CYP2A6*28, CYP2A6*35, CYP2A6*46',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*2 + *1/*4 + *1/*17 + *1/*20 + *1/*23 + *1/*24 + *1/*25 + *1/*26 + *1/*27 + *1/*28 + *1/*35 + *9/*9 + *17/*17 + *20/*20 + *35/*35'}],\n", - " 'PMC11917620': [{'variant_id': 'HLA-B*15:18, HLA-B*40:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:18/*40:01'}],\n", - " 'PMC8678305': [{'variant_id': 'NUDT15*1, NUDT15*2, NUDT15*3',\n", - " 'gene': 'NUDT15',\n", - " 'allele': '*1/*2 + *1/*3'},\n", - " {'variant_id': 'TPMT*1, TPMT*2, TPMT*3A, TPMT*3C, TPMT*8, TPMT*9, TPMT*12, TPMT*24',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*2 + *1/*3A +*1/*3C +*1/*8 +*1/*9 +*1/*12 +*1/*24 +*2/*3A +*3A/*3A +*3C/*3C'}],\n", - " 'PMC5065345': [{'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs1801265', 'gene': 'DPYD', 'allele': 'AG'}],\n", - " 'PMC9303592': [{'variant_id': 'SLCO1B1*1, SLCO1B1*5',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*1/*5 + *5/*5'}],\n", - " 'PMC5071174': [{'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'}],\n", - " 'PMC3063997': [{'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)/HTTLPR long form (L allele)'},\n", - " {'variant_id': 'rs1042173', 'gene': 'SLC6A4', 'allele': 'AA'}],\n", - " 'PMC9810307': [{'variant_id': 'rs2612091', 'gene': 'ENOSF1', 'allele': 'CC'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'}],\n", - " 'PMC3872961': [{'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)/HTTLPR long form (L allele)'}],\n", - " 'PMC9322346': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*11',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*11 + *2/*11'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*11',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*11 + *2/*11'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*11', 'gene': 'CYP2C9', 'allele': '*1/*11'}],\n", - " 'PMC2696766': [{'variant_id': 'rs11280056',\n", - " 'gene': 'TYMS',\n", - " 'allele': 'TTAAAGTTA'},\n", - " {'variant_id': 'rs11280056', 'gene': 'TYMS', 'allele': 'TTAAAGTTA'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTCGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTCGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'A'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'GG'}],\n", - " 'PMC5980573': [{'variant_id': 'UGT1A1*1, UGT1A1*28, UGT1A1*37',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28 + *28/*37'}],\n", - " 'PMC3471396': [{'variant_id': 'rs1142345', 'gene': 'TPMT', 'allele': 'C'},\n", - " {'variant_id': 'rs2413739', 'gene': 'PACSIN2', 'allele': 'T'},\n", - " {'variant_id': 'rs11045879', 'gene': 'SLCO1B1', 'allele': 'T'},\n", - " {'variant_id': 'rs1142345', 'gene': 'TPMT', 'allele': 'CT'},\n", - " {'variant_id': 'rs2413739', 'gene': 'PACSIN2', 'allele': 'C'}],\n", - " 'PMC2793040': [{'variant_id': 'rs11045879', 'gene': 'SLCO1B1', 'allele': 'T'},\n", - " {'variant_id': 'rs4149081', 'gene': 'SLCO1B1', 'allele': 'G'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'C'},\n", - " {'variant_id': 'rs11045879', 'gene': 'SLCO1B1', 'allele': 'T'},\n", - " {'variant_id': 'rs4149081', 'gene': 'SLCO1B1', 'allele': 'G'}],\n", - " 'PMC5520099': [{'variant_id': 'rs11280056', 'gene': 'TYMS', 'allele': 'del'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3'},\n", - " {'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'TT'},\n", - " {'variant_id': 'rs75017182', 'gene': 'DPYD', 'allele': 'GG'},\n", - " {'variant_id': 'rs1801158', 'gene': 'DPYD', 'allele': 'CC'},\n", - " {'variant_id': 'rs55886062', 'gene': 'DPYD', 'allele': 'AA'}],\n", - " 'PMC9537744': [{'variant_id': 'GSTT1 non-null, GSTT1 null',\n", - " 'gene': 'GSTT1',\n", - " 'allele': None},\n", - " {'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': None},\n", - " {'variant_id': 'rs143731390', 'gene': 'CYP2A6', 'allele': 'A'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs3957357', 'gene': 'GSTA1', 'allele': 'A'},\n", - " {'variant_id': 'rs1051775', 'gene': 'GSTA1', 'allele': 'C'},\n", - " {'variant_id': 'rs1051775', 'gene': 'GSTA1', 'allele': 'C'},\n", - " {'variant_id': 'rs3211371', 'gene': 'CYP2B6', 'allele': 'T'}],\n", - " 'PMC9576471': [{'variant_id': 'UGT1A7*1a, UGT1A7*2, UGT1A7*3',\n", - " 'gene': 'UGT1A7',\n", - " 'allele': '*1a/*3 + *2/*3 + *3/*3'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*6 + *6/*6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*27, UGT1A1*28, UGT1A1*60',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*27 + *28 + *60'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*6 + *6/*6'},\n", - " {'variant_id': 'UGT1A7*1a, UGT1A7*2, UGT1A7*3',\n", - " 'gene': 'UGT1A7',\n", - " 'allele': '*1a/*3 + *2/*3 + *3/*3'},\n", - " {'variant_id': 'rs3832043', 'gene': 'UGT1A9', 'allele': 'T/del + del/del'},\n", - " {'variant_id': 'rs3832043', 'gene': 'UGT1A9', 'allele': 'T/del + del/del'}],\n", - " 'PMC6021964': [{'variant_id': 'GSTT1 non-null, GSTT1 null',\n", - " 'gene': 'GSTT1',\n", - " 'allele': None}],\n", - " 'PMC2675574': [{'variant_id': 'rs1801252',\n", - " 'gene': 'ADRB1',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs1801252', 'gene': 'ADRB1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs1801253', 'gene': 'ADRB1', 'allele': 'CC + CG'},\n", - " {'variant_id': 'rs1801253', 'gene': 'ADRB1', 'allele': 'CC + CG'}],\n", - " 'PMC6989102': [{'variant_id': 'CYP2C9*1, CYP2C9*2',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3 + *2/*2 + *2/*3 + *3/*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3 + *2/*2 + *2/*3 + *3/*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*1/*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3 + *2/*2 + *2/*3 + *3/*3'}],\n", - " 'PMC9534651': [{'variant_id': 'CYP2A6*4',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*4/*4'},\n", - " {'variant_id': 'rs3760657', 'gene': 'CYP2B6', 'allele': 'AA'},\n", - " {'variant_id': 'rs3100', 'gene': 'UGT2B15', 'allele': 'AA'},\n", - " {'variant_id': 'rs11726322', 'gene': 'UGT2B10', 'allele': 'CC'}],\n", - " 'PMC3992871': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*1/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'}],\n", - " 'PMC6421934': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28'},\n", - " {'variant_id': 'rs238406', 'gene': 'ERCC2', 'allele': 'T'},\n", - " {'variant_id': 'rs238406', 'gene': 'ERCC2', 'allele': 'GT + TT'},\n", - " {'variant_id': 'rs1799793', 'gene': 'ERCC2', 'allele': 'T'},\n", - " {'variant_id': 'rs1799793', 'gene': 'ERCC2', 'allele': 'TT'},\n", - " {'variant_id': 'rs1050565', 'gene': 'BLMH', 'allele': 'CC'},\n", - " {'variant_id': 'rs1050565', 'gene': 'BLMH', 'allele': 'CC'},\n", - " {'variant_id': 'rs3212986', 'gene': 'ERCC1', 'allele': 'A'},\n", - " {'variant_id': 'rs11615', 'gene': 'ERCC1', 'allele': 'AA'},\n", - " {'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'C'},\n", - " {'variant_id': 'rs13181', 'gene': 'ERCC2', 'allele': 'G'},\n", - " {'variant_id': 'rs13181', 'gene': 'ERCC2', 'allele': 'GG + GT'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'G'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'GG'},\n", - " {'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'CT'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'GG'},\n", - " {'variant_id': 'rs3212986', 'gene': 'ERCC1', 'allele': 'AC + CC'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'}],\n", - " 'PMC4976849': [{'variant_id': 'rs1801131',\n", - " 'gene': 'MTHFR',\n", - " 'allele': 'GT + TT'},\n", - " {'variant_id': 'rs1051266', 'gene': 'SLC19A1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs11280056',\n", - " 'gene': 'TYMS',\n", - " 'allele': 'TTAAAGTTA/TTAAAGTTA'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'C18orf56, TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs1979277', 'gene': 'SHMT1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs3758149', 'gene': 'GGH', 'allele': 'AA'}],\n", - " 'PMC7299187': [{'variant_id': 'HLA-DRB1*07:01',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*07:01'}],\n", - " 'PMC4646353': [{'variant_id': 'GSTT1 non-null, GSTT1 null',\n", - " 'gene': 'GSTT1',\n", - " 'allele': 'null/null'},\n", - " {'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': 'null/null'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'AG + GG'}],\n", - " 'PMC2694861': [{'variant_id': 'rs1799752',\n", - " 'gene': 'ACE',\n", - " 'allele': 'ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC'}],\n", - " 'PMC3839910': [{'variant_id': 'HLA-B*15:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-A*31:01', 'gene': 'HLA-A', 'allele': '*31:01'},\n", - " {'variant_id': 'HLA-A*31:01', 'gene': 'HLA-A', 'allele': '*31:01'},\n", - " {'variant_id': 'HLA-A*31:01', 'gene': 'HLA-A', 'allele': '*31:01'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'}],\n", - " 'PMC2660379': [{'variant_id': 'rs25531', 'gene': 'SLC6A4', 'allele': 'C'},\n", - " {'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)/HTTLPR long form (L allele)'},\n", - " {'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)/HTTLPR long form (L allele)'}],\n", - " 'PMC5728073': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*3/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*3/*3'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'C'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GT'}],\n", - " 'PMC9585659': [{'variant_id': 'rs1799762',\n", - " 'gene': 'SERPINE1',\n", - " 'allele': 'GG'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'GG'}],\n", - " 'PMC3164878': [{'variant_id': 'rs648893', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs671531', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs548646', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs548646', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs9322447', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs609148', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs609148', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs3823010', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs495491', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1381376', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs2075572', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs511435', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs511435', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs1381376', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs648893', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs524731', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs3778156', 'gene': 'OPRM1', 'allele': 'G'}],\n", - " 'PMC4250881': [{'variant_id': 'NAT2*4', 'gene': 'NAT2', 'allele': '*4'},\n", - " {'variant_id': 'NAT2*6', 'gene': 'NAT2', 'allele': '*6'},\n", - " {'variant_id': 'NAT2*6, NAT2*7', 'gene': 'NAT2', 'allele': '*6/*7'}],\n", - " 'PMC5089920': [{'variant_id': 'rs4880', 'gene': 'SOD2', 'allele': 'GG'}],\n", - " 'PMC10026301': [{'variant_id': 'GSTT1 null', 'gene': 'GSTT1', 'allele': None},\n", - " {'variant_id': 'GSTM1 null', 'gene': 'GSTM1', 'allele': None},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs532545', 'gene': 'CDA', 'allele': 'CC'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'GG'}],\n", - " 'PMC3678950': [{'variant_id': 'rs61767072',\n", - " 'gene': 'ADRA2C',\n", - " 'allele': 'GGGGCGGGGCCG/GGGGCGGGGCCG'},\n", - " {'variant_id': 'rs61767072',\n", - " 'gene': 'ADRA2C',\n", - " 'allele': 'GGGGCGGGGCCG/GGGGCGGGGCCG'},\n", - " {'variant_id': 'rs1042713', 'gene': 'ADRB2', 'allele': 'GG'},\n", - " {'variant_id': 'rs1042713', 'gene': 'ADRB2', 'allele': 'G'},\n", - " {'variant_id': 'rs2230345', 'gene': 'GRK5', 'allele': 'A'},\n", - " {'variant_id': 'rs1801253', 'gene': 'ADRB1', 'allele': 'G'},\n", - " {'variant_id': 'rs2230345', 'gene': 'GRK5', 'allele': 'AT + TT'}],\n", - " 'PMC3445665': [{'variant_id': 'rs7001034', 'gene': 'FZD3', 'allele': 'A'},\n", - " {'variant_id': 'rs10771973', 'gene': 'FGD4', 'allele': 'A'},\n", - " {'variant_id': 'rs7349683', 'gene': 'EPHA5', 'allele': 'T'}],\n", - " 'PMC3680019': [{'variant_id': 'CYP2B6*1, CYP2B6*6',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*6'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*11', 'gene': 'CYP2B6', 'allele': '*1'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*9', 'gene': 'CYP2A6', 'allele': '*1'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*17', 'gene': 'CYP2A6', 'allele': '*1'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*6', 'gene': 'CYP2B6', 'allele': '*1'},\n", - " {'variant_id': 'rs3003596', 'gene': 'NR1I3', 'allele': 'A'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'G'}],\n", - " 'PMC3694243': [{'variant_id': 'rs11280056',\n", - " 'gene': 'TYMS',\n", - " 'allele': 'TTA/TTA'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'G'},\n", - " {'variant_id': 'rs602950', 'gene': 'CDA', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs602950', 'gene': 'CDA', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'A'},\n", - " {'variant_id': 'rs2072671', 'gene': 'CDA', 'allele': 'A'},\n", - " {'variant_id': 'rs3215400', 'gene': 'CDA', 'allele': 'del'},\n", - " {'variant_id': 'rs602950', 'gene': 'CDA', 'allele': 'A'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'GG'},\n", - " {'variant_id': 'rs532545', 'gene': 'CDA', 'allele': 'C'},\n", - " {'variant_id': 'rs75017182', 'gene': 'DPYD', 'allele': 'CG'},\n", - " {'variant_id': 'rs2669429', 'gene': 'DPYS', 'allele': 'A'},\n", - " {'variant_id': 'rs55886062', 'gene': 'DPYD', 'allele': 'AC'},\n", - " {'variant_id': 'rs1801158', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs2297595', 'gene': 'DPYD', 'allele': 'C'},\n", - " {'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'AT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC9363274': [{'variant_id': 'HLA-DRB1*04:02',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*04:02'}],\n", - " 'PMC3619141': [{'variant_id': 'SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR short form (S allele)/HTTLPR short form (S allele)'},\n", - " {'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)/HTTLPR short form (S allele)'},\n", - " {'variant_id': 'rs1042713', 'gene': 'ADRB2', 'allele': 'G'},\n", - " {'variant_id': 'rs6280', 'gene': 'DRD3', 'allele': 'C'},\n", - " {'variant_id': 'rs6280', 'gene': 'DRD3', 'allele': 'C'}],\n", - " 'PMC1851378': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4'},\n", - " {'variant_id': 'UGT2B15*1, UGT2B15*2', 'gene': 'UGT2B15', 'allele': '*2'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*3/*3'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'},\n", - " {'variant_id': 'rs1042028', 'gene': 'SULT1A1', 'allele': 'CC'},\n", - " {'variant_id': 'rs3892097', 'gene': 'CYP2D6', 'allele': 'TT'}],\n", - " 'PMC3773276': [{'variant_id': 'CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*17', 'gene': 'CYP2C19', 'allele': '*17'},\n", - " {'variant_id': 'CYP2C19*17', 'gene': 'CYP2C19', 'allele': '*17'}],\n", - " 'PMC4872305': [{'variant_id': 'CYP2D6*1, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*1xN, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*10x2, CYP2D6*14, CYP2D6*21, CYP2D6*36, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*4 + *1/*5 + *1/*10 + *1/*10x2 + *10/*10x2 + *1/*14 + *1/*21 + *1/*36 + *1/*41 + *1xN/*10 + *5/*5 + *5/*10 + *5/*21 + *5/*41 + *10/*10 + *10/*21 + *10/*36 + *10/*41'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'C'},\n", - " {'variant_id': 'rs3213619', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'G'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'C'},\n", - " {'variant_id': 'rs3740065', 'gene': 'ABCC2', 'allele': 'AA'},\n", - " {'variant_id': 'rs3740065', 'gene': 'ABCC2', 'allele': 'AA'}],\n", - " 'PMC8174577': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs10494366', 'gene': 'NOS1AP', 'allele': 'T'},\n", - " {'variant_id': 'rs2237892', 'gene': 'KCNQ1', 'allele': 'T'},\n", - " {'variant_id': 'rs1057868', 'gene': 'POR', 'allele': 'T'},\n", - " {'variant_id': 'rs2237895', 'gene': 'KCNQ1', 'allele': 'C'},\n", - " {'variant_id': 'rs163184', 'gene': 'KCNQ1', 'allele': 'G'},\n", - " {'variant_id': 'rs7756992', 'gene': 'CDKAL1', 'allele': 'G'},\n", - " {'variant_id': 'rs2943641', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs1801278', 'gene': 'IRS1', 'allele': 'T'},\n", - " {'variant_id': 'rs1799859', 'gene': 'ABCC8', 'allele': 'T'},\n", - " {'variant_id': 'rs1799854', 'gene': 'ABCC8', 'allele': 'A'},\n", - " {'variant_id': 'rs5219', 'gene': 'ABCC8, KCNJ11', 'allele': 'C'},\n", - " {'variant_id': 'rs757110', 'gene': 'ABCC8, KCNJ11', 'allele': 'A'},\n", - " {'variant_id': 'rs7903146', 'gene': 'TCF7L2', 'allele': 'T'}],\n", - " 'PMC9857512': [{'variant_id': 'rs12283870',\n", - " 'gene': 'CPT1A, IGHMBP2',\n", - " 'allele': 'T'},\n", - " {'variant_id': 'rs738409', 'gene': 'PNPLA3', 'allele': 'G'},\n", - " {'variant_id': 'rs1142345', 'gene': 'TPMT', 'allele': 'C'},\n", - " {'variant_id': 'rs887829', 'gene': 'UGT1A1', 'allele': 'T'}],\n", - " 'PMC6518412': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None}],\n", - " 'PMC5348437': [{'variant_id': 'HLA-B*58:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*58:01'}],\n", - " 'PMC11158376': [{'variant_id': 'CYP2D6*1, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'}],\n", - " 'PMC3883563': [{'variant_id': 'rs4646316', 'gene': 'COMT', 'allele': 'T'},\n", - " {'variant_id': 'rs9332377', 'gene': 'COMT', 'allele': 'T'},\n", - " {'variant_id': 'rs1800460', 'gene': 'TPMT', 'allele': 'T'},\n", - " {'variant_id': 'rs1142345', 'gene': 'TPMT', 'allele': 'C'},\n", - " {'variant_id': 'rs12201199', 'gene': 'TPMT', 'allele': 'T'}],\n", - " 'PMC2754955': [{'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'AA'},\n", - " {'variant_id': 'rs70991108', 'gene': 'DHFR', 'allele': 'del'}],\n", - " 'PMC4139556': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC1689719': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None},\n", - " {'variant_id': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like'},\n", - " {'variant_id': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like'},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None},\n", - " {'variant_id': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like'},\n", - " {'variant_id': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like'},\n", - " {'variant_id': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like'},\n", - " {'variant_id': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like'},\n", - " {'variant_id': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like'},\n", - " {'variant_id': 'G6PD Canton, Taiwan-Hakka, Gifu-like, Agrigento-like',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'Canton, Taiwan-Hakka, Gifu-like, Agrigento-like'}],\n", - " 'PMC4737107': [{'variant_id': 'TPMT*1, TPMT*2, TPMT*3A, TPMT*3C, TPMT*9, TPMT*21, TPMT*33, TPMT*34',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*2 + *1/*3A + *1/*3C + *1/*9 + *1/*21 + *1/*33 + *1/*34'},\n", - " {'variant_id': 'TPMT*1, TPMT*3C', 'gene': 'TPMT', 'allele': '*1/*3C'},\n", - " {'variant_id': 'TPMT*1, TPMT*3A', 'gene': 'TPMT', 'allele': '*1/*3A'},\n", - " {'variant_id': 'TPMT*1, TPMT*3A', 'gene': 'TPMT', 'allele': '*1/*3A'},\n", - " {'variant_id': 'TPMT*1, TPMT*2, TPMT*3A, TPMT*3C, TPMT*9, TPMT*21, TPMT*33, TPMT*34',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*2 + *1/*3A + *1/*3C + *1/*9 + *1/*21 + *1/*33 + *1/*34'},\n", - " {'variant_id': 'TPMT*1, TPMT*2, TPMT*3A, TPMT*3C, TPMT*9, TPMT*21, TPMT*32, TPMT*33, TPMT*34',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*3C'},\n", - " {'variant_id': 'TPMT*1, TPMT*3C', 'gene': 'TPMT', 'allele': '*1/*3C'},\n", - " {'variant_id': 'TPMT*1, TPMT*2, TPMT*3A, TPMT*3C, TPMT*9, TPMT*21, TPMT*32, TPMT*33, TPMT*34',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*2 + *1/*3A + *1/*3C + *1/*9 + *1/*21 + *1/*32 + *1/*33 + *1/*34'}],\n", - " 'PMC10605279': [{'variant_id': 'rs2768759', 'gene': 'PEAR1', 'allele': 'AC'},\n", - " {'variant_id': 'rs12041331', 'gene': 'PEAR1', 'allele': 'AA + AG'}],\n", - " 'PMC4457100': [{'variant_id': 'CYP2C9*1, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3'}],\n", - " 'PMC6132901': [{'variant_id': 'rs116855232',\n", - " 'gene': 'NUDT15',\n", - " 'allele': 'TT'},\n", - " {'variant_id': 'NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*4, NUDT15*5, NUDT15*6',\n", - " 'gene': 'NUDT15',\n", - " 'allele': '*2 + *3 + *4 + *5 + *6'},\n", - " {'variant_id': 'rs116855232', 'gene': 'NUDT15', 'allele': 'T'}],\n", - " 'PMC8191649': [{'variant_id': 'HLA-B*15:21',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:21'},\n", - " {'variant_id': 'HLA-A*24:07', 'gene': 'HLA-A', 'allele': '*24:07'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'}],\n", - " 'PMC3428903': [{'variant_id': 'HLA-A*03:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*03:01'},\n", - " {'variant_id': 'HLA-A*03:01', 'gene': 'HLA-A', 'allele': '*03:01'}],\n", - " 'PMC6817890': [{'variant_id': 'HLA-A*24:02',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*24:02'},\n", - " {'variant_id': 'HLA-B*13:01', 'gene': 'HLA-B', 'allele': '*13:01'},\n", - " {'variant_id': 'HLA-A*02:06', 'gene': 'HLA-A', 'allele': '*02:06'},\n", - " {'variant_id': 'HLA-B*44:03', 'gene': 'HLA-B', 'allele': '*44:03'},\n", - " {'variant_id': 'HLA-C*14:03', 'gene': 'HLA-C', 'allele': '*14:03'},\n", - " {'variant_id': 'HLA-DRB1*08:03', 'gene': 'HLA-DRB1', 'allele': '*08:03'},\n", - " {'variant_id': 'HLA-DRB1*12:02', 'gene': 'HLA-DRB1', 'allele': '*12:02'}],\n", - " 'PMC6612297': [{'variant_id': 'HLA-A*32:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*32:01'}],\n", - " 'PMC8422715': [{'variant_id': 'HLA-B*15:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:02'}],\n", - " 'PMC4415182': [{'variant_id': 'HLA-B*15:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*46:01', 'gene': 'HLA-B', 'allele': '*46:01'}],\n", - " 'PMC2561120': [{'variant_id': 'rs7270101',\n", - " 'gene': 'ITPA',\n", - " 'allele': 'AC + CC'},\n", - " {'variant_id': 'TPMT*1, TPMT*3A, TPMT*3C',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*3A + *3C'},\n", - " {'variant_id': 'rs7270101', 'gene': 'ITPA', 'allele': 'AC + CC'}],\n", - " 'PMC10091789': [{'variant_id': 'rs10898815',\n", - " 'gene': 'NUMA1',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'TT'},\n", - " {'variant_id': 'rs877087', 'gene': 'RYR3', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs877087', 'gene': 'RYR3', 'allele': 'TT'},\n", - " {'variant_id': 'rs1048101', 'gene': 'ADRA1A', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs564991', 'gene': 'APCDD1', 'allele': 'CC'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'TT'}],\n", - " 'PMC3190469': [{'variant_id': 'HLA-B*15:18, HLA-B*40:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:18/*40:01'}],\n", - " 'PMC2072824': [{'variant_id': 'HLA-B*44:02, HLA-B*44:03',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*44:02 + *44:03'},\n", - " {'variant_id': 'HLA-B*13:01', 'gene': 'HLA-B', 'allele': '*13:01'}],\n", - " 'PMC384715': [{'variant_id': 'HLA-B*57:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*57:01'}],\n", - " 'PMC6989248': [{'variant_id': 'HLA-A*02:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*02:01'},\n", - " {'variant_id': 'HLA-B*51:01', 'gene': 'HLA-B', 'allele': '*51:01'},\n", - " {'variant_id': 'HLA-A*31:01', 'gene': 'HLA-A', 'allele': '*31:01'},\n", - " {'variant_id': 'HLA-C*03:04', 'gene': 'HLA-C', 'allele': '*03:04'}],\n", - " 'PMC3616517': [{'variant_id': 'HLA-DQB1*05:01',\n", - " 'gene': 'HLA-DQB1',\n", - " 'allele': '*05:01'},\n", - " {'variant_id': 'HLA-DQB1*06:02', 'gene': 'HLA-DQB1', 'allele': '*06:02'},\n", - " {'variant_id': 'HLA-DQB1*06:03', 'gene': 'HLA-DQB1', 'allele': '*06:03'},\n", - " {'variant_id': 'HLA-DQB1*06:02', 'gene': 'HLA-DQB1', 'allele': '*06:02'},\n", - " {'variant_id': 'HLA-DRB1*15:03', 'gene': 'HLA-DRB1', 'allele': '*15:03'},\n", - " {'variant_id': 'HLA-DQB1*06:09', 'gene': 'HLA-DQB1', 'allele': '*06:09'},\n", - " {'variant_id': 'HLA-DQB1*02:01', 'gene': 'HLA-DQB1', 'allele': '*02:01'},\n", - " {'variant_id': 'HLA-DQB1*02:01', 'gene': 'HLA-DQB1', 'allele': '*02:01'},\n", - " {'variant_id': 'HLA-DQB1*03:02', 'gene': 'HLA-DQB1', 'allele': '*03:02'},\n", - " {'variant_id': 'HLA-DQB1*06:02', 'gene': 'HLA-DQB1', 'allele': '*06:02'},\n", - " {'variant_id': 'HLA-DQB1*03:02', 'gene': 'HLA-DQB1', 'allele': '*03:02'},\n", - " {'variant_id': 'HLA-C*04:01', 'gene': 'HLA-C', 'allele': '*04:01'},\n", - " {'variant_id': 'HLA-C*04:01', 'gene': 'HLA-C', 'allele': '*04:01'},\n", - " {'variant_id': 'HLA-DQB1*05:01', 'gene': 'HLA-DQB1', 'allele': '*05:01'}],\n", - " 'PMC6051654': [{'variant_id': 'HLA-DRB1*01:01',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*01:01'},\n", - " {'variant_id': 'HLA-A*11:01', 'gene': 'HLA-A', 'allele': '*11:01'},\n", - " {'variant_id': 'HLA-DQB1*06:02', 'gene': 'HLA-DQB1', 'allele': '*06:02'},\n", - " {'variant_id': 'HLA-DQB1*03:03', 'gene': 'HLA-DQB1', 'allele': '*03:03'}],\n", - " 'PMC7674263': [{'variant_id': 'HLA-A*32:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*32:01'}],\n", - " 'PMC3551216': [{'variant_id': 'HLA-DRB1*01:02',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*01:02'},\n", - " {'variant_id': 'HLA-B*58:01', 'gene': 'HLA-B', 'allele': '*58:01'},\n", - " {'variant_id': 'HLA-B*58:02', 'gene': 'HLA-B', 'allele': '*58:02'},\n", - " {'variant_id': 'HLA-C*02:10', 'gene': 'HLA-C', 'allele': '*02:10'},\n", - " {'variant_id': 'HLA-B*15:10', 'gene': 'HLA-B', 'allele': '*15:10'}],\n", - " 'PMC4141516': [{'variant_id': 'HLA-DRB1*07:01',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*07:01'}],\n", - " 'PMC4819766': [{'variant_id': 'HLA-DRB1*07:01',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*07:01'}],\n", - " 'PMC3487790': [{'variant_id': 'rs4969170', 'gene': None, 'allele': 'AA'},\n", - " {'variant_id': 'rs2660', 'gene': 'OAS1', 'allele': 'AG'},\n", - " {'variant_id': 'rs231775', 'gene': 'CTLA4', 'allele': 'AG'},\n", - " {'variant_id': 'rs1127354', 'gene': 'ITPA', 'allele': 'AC'},\n", - " {'variant_id': 'rs231775', 'gene': 'CTLA4', 'allele': 'A'},\n", - " {'variant_id': 'rs4969170', 'gene': 'SOCS3', 'allele': 'AG'},\n", - " {'variant_id': 'rs8099917', 'gene': 'IFNL3', 'allele': 'T'}],\n", - " 'PMC3049596': [{'variant_id': 'CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9, CYP2A6*10',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*1'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9, CYP2A6*10',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*1'}],\n", - " 'PMC5634615': [{'variant_id': 'HLA-B*35:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*35:02'}],\n", - " 'PMC2709795': [{'variant_id': 'CYP2C8*1, CYP2C8*3',\n", - " 'gene': 'CYP2C8',\n", - " 'allele': '*3'},\n", - " {'variant_id': 'CYP2C8*1, CYP2C8*3', 'gene': 'CYP2C8', 'allele': '*3'},\n", - " {'variant_id': 'CYP2C8*1, CYP2C8*3', 'gene': 'CYP2C8', 'allele': '*3'}],\n", - " 'PMC4420567': [{'variant_id': 'CYP2D6*1, CYP2D6*5',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*5'}],\n", - " 'PMC8263746': [{'variant_id': 'NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5',\n", - " 'gene': 'NUDT15',\n", - " 'allele': '*2/*2 +*2/*3 +*3/*3 + *5/*5'},\n", - " {'variant_id': 'NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*4, NUDT15*5',\n", - " 'gene': 'NUDT15',\n", - " 'allele': '*2/*2 +*2/*3 +*3/*3 + *5/*5'}],\n", - " 'PMC8742639': [{'variant_id': 'SLCO1B1*15',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*15'}],\n", - " 'PMC3909953': [{'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3 + *4 + *5 + *10 + *41'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3 + *4 + *5 + *10 + *41'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*4 + *1/*10 + *1/*5 + *1/*41 + *1/*3'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*4 + *3/*5 + *4/*4 + *4/*5'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3 + *4 + *5 + *10 + *41'},\n", - " {'variant_id': 'rs3892097', 'gene': 'CYP2D6', 'allele': 'T'}],\n", - " 'PMC8441053': [{'variant_id': 'CYP2D6*1, CYP2D6*4, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*1 + *10/*10 + *1/*4 + *1/*10'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*17 + *17/*17'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'}],\n", - " 'PMC9924616': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC4110085': [{'variant_id': 'rs1801133',\n", - " 'gene': 'MTHFR',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs2236225', 'gene': 'MTHFD1', 'allele': 'A'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'G'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'AA + AG'}],\n", - " 'PMC1895006': [{'variant_id': 'rs45445694',\n", - " 'gene': 'C18orf56, TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3'}],\n", - " 'PMC7929788': [{'variant_id': 'rs1799752',\n", - " 'gene': 'ACE',\n", - " 'allele': 'del/del'}],\n", - " 'PMC8409603': [{'variant_id': 'CYP2C9*1, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3 + *3/*3'}],\n", - " 'PMC8790808': [{'variant_id': 'HLA-DQA1*02:01',\n", - " 'gene': 'HLA-DQA1',\n", - " 'allele': '*02:01'},\n", - " {'variant_id': 'HLA-DQB1*02:02', 'gene': 'HLA-DQB1', 'allele': '*02:02'},\n", - " {'variant_id': 'HLA-DRB1*07:01', 'gene': 'HLA-DRB1', 'allele': '*07:01'},\n", - " {'variant_id': 'rs9958628', 'gene': 'ARHGAP28', 'allele': 'T'}],\n", - " 'PMC8415730': [{'variant_id': 'rs1799752', 'gene': 'ACE', 'allele': 'del'},\n", - " {'variant_id': 'rs2285666', 'gene': 'ACE2', 'allele': 'C'}],\n", - " 'PMC8426884': [{'variant_id': 'rs1799752', 'gene': 'ACE', 'allele': 'del'},\n", - " {'variant_id': 'rs2106809', 'gene': 'ACE2', 'allele': 'A'},\n", - " {'variant_id': 'rs2285666', 'gene': 'ACE2', 'allele': 'C'}],\n", - " 'PMC8596349': [{'variant_id': 'rs1799752',\n", - " 'gene': 'ACE',\n", - " 'allele': 'ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC'},\n", - " {'variant_id': 'rs699', 'gene': 'AGT', 'allele': 'AG'}],\n", - " 'PMC8166347': [{'variant_id': 'rs1799752',\n", - " 'gene': 'ACE',\n", - " 'allele': 'ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC'},\n", - " {'variant_id': 'rs2074192', 'gene': 'ACE2', 'allele': 'T'},\n", - " {'variant_id': 'rs2106809', 'gene': 'ACE2', 'allele': 'A'},\n", - " {'variant_id': 'rs699', 'gene': 'AGT', 'allele': 'A'},\n", - " {'variant_id': 'rs5186', 'gene': 'AGTR1', 'allele': 'C'},\n", - " {'variant_id': 'rs4762', 'gene': 'AGT', 'allele': 'A'}],\n", - " 'PMC9925376': [{'variant_id': 'CYP2C19*1, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*17/*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2 + *2/*1 + *2/*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2 + *2/*1 + *2/*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2 + *2/*1 + *2/*17'}],\n", - " 'PMC8621157': [{'variant_id': 'rs1799752', 'gene': 'ACE', 'allele': 'del'},\n", - " {'variant_id': 'rs1799752', 'gene': 'ACE', 'allele': 'del/del'},\n", - " {'variant_id': 'rs4240157', 'gene': 'ACE2', 'allele': 'CC'},\n", - " {'variant_id': 'rs4240157', 'gene': 'ACE2', 'allele': 'C'}],\n", - " 'PMC9974434': [{'variant_id': 'NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5, NUDT15*6',\n", - " 'gene': 'NUDT15',\n", - " 'allele': '*1/*2 + *1/*3 + *1/*5 + *1/*6'},\n", - " {'variant_id': 'NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5, NUDT15*6',\n", - " 'gene': 'NUDT15',\n", - " 'allele': '*1/*2 + *1/*3 + *1/*5 + *1/*6'}],\n", - " 'PMC3580556': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*17 + *17/*17'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GT'},\n", - " {'variant_id': 'rs762551', 'gene': 'CYP1A2', 'allele': 'AC + CC'},\n", - " {'variant_id': 'rs3213422', 'gene': 'DHODH', 'allele': 'AA'}],\n", - " 'PMC7308427': [{'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1051266', 'gene': 'SLC19A1', 'allele': 'TT'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3'},\n", - " {'variant_id': 'rs1051266', 'gene': 'SLC19A1', 'allele': 'TT'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'A'}],\n", - " 'PMC10564446': [{'variant_id': 'HLA-DRB1*15:01',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*15:01'}],\n", - " 'PMC2816343': [{'variant_id': 'CYP2D6*5, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*5/*10'},\n", - " {'variant_id': 'CYP2D6*5, CYP2D6*10', 'gene': 'CYP2D6', 'allele': '*5/*10'}],\n", - " 'PMC9442161': [{'variant_id': 'GSTT1 non-null, GSTT1 null',\n", - " 'gene': 'GSTT1',\n", - " 'allele': None},\n", - " {'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': None}],\n", - " 'PMC6145764': [{'variant_id': 'HLA-A*31:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*31:01'}],\n", - " 'PMC2714288': [{'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)'},\n", - " {'variant_id': 'rs6311', 'gene': 'HTR2A', 'allele': 'T'}],\n", - " 'PMC1770668': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC3939416': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*3 + *1/*1'}],\n", - " 'PMC9990631': [{'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'CT + TT'}],\n", - " 'PMC10309546': [{'variant_id': 'rs11280056', 'gene': 'TYMS', 'allele': 'TTA'},\n", - " {'variant_id': 'rs648743', 'gene': 'CTH', 'allele': 'CC'},\n", - " {'variant_id': 'rs2853539', 'gene': 'TYMS', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1937840', 'gene': 'AKR1C3', 'allele': 'G'},\n", - " {'variant_id': 'rs1544105', 'gene': 'FPGS', 'allele': 'TT'},\n", - " {'variant_id': 'rs3754446', 'gene': 'GSTM5', 'allele': 'C'},\n", - " {'variant_id': 'rs17343066', 'gene': 'SLC28A3', 'allele': 'AA'},\n", - " {'variant_id': 'rs12067645', 'gene': 'DCTD', 'allele': 'AA'},\n", - " {'variant_id': 'rs12067645', 'gene': 'CTPS1', 'allele': 'A'},\n", - " {'variant_id': 'rs12067645', 'gene': 'CTPS1', 'allele': 'A'},\n", - " {'variant_id': 'rs4148737', 'gene': 'ABCB1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'T'}],\n", - " 'PMC9298338': [{'variant_id': 'rs72552763',\n", - " 'gene': 'SLC22A1',\n", - " 'allele': 'del'},\n", - " {'variant_id': 'rs72552763', 'gene': 'SLC22A1', 'allele': 'del'},\n", - " {'variant_id': 'rs34059508', 'gene': 'SLC22A1', 'allele': 'A'},\n", - " {'variant_id': 'rs12208357', 'gene': 'SLC22A1', 'allele': 'T'},\n", - " {'variant_id': 'rs34059508', 'gene': 'SLC22A1', 'allele': 'A'},\n", - " {'variant_id': 'rs12208357', 'gene': 'SLC22A1', 'allele': 'T'},\n", - " {'variant_id': 'rs34130495', 'gene': 'SLC22A1', 'allele': 'A'},\n", - " {'variant_id': 'rs34130495', 'gene': 'SLC22A1', 'allele': 'A'},\n", - " {'variant_id': 'rs72552763', 'gene': 'SLC22A1', 'allele': 'del'},\n", - " {'variant_id': 'rs12208357', 'gene': 'SLC22A1', 'allele': 'T'},\n", - " {'variant_id': 'rs34059508', 'gene': 'SLC22A1', 'allele': 'A'},\n", - " {'variant_id': 'rs34130495', 'gene': 'SLC22A1', 'allele': 'A'}],\n", - " 'PMC10189794': [{'variant_id': 'HLA-DRB1*07:01',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*07:01'},\n", - " {'variant_id': 'HLA-DRB1*12:02', 'gene': 'HLA-DRB1', 'allele': '*12:02'},\n", - " {'variant_id': 'HLA-DRB1*04:05', 'gene': 'HLA-DRB1', 'allele': '*04:05'},\n", - " {'variant_id': 'HLA-DRB1*07:01', 'gene': 'HLA-DRB1', 'allele': '*07:01'}],\n", - " 'PMC9806075': [{'variant_id': 'HLA-C*01:02',\n", - " 'gene': 'HLA-C',\n", - " 'allele': '*01:02'}],\n", - " 'PMC2492911': [{'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'AA'}],\n", - " 'PMC8097083': [{'variant_id': 'rs383510', 'gene': 'TMPRSS2', 'allele': 'CC'},\n", - " {'variant_id': 'rs12329760', 'gene': 'TMPRSS2', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs2070788', 'gene': 'TMPRSS2', 'allele': 'GG'}],\n", - " 'PMC3537445': [{'variant_id': 'UGT1A1*1, UGT1A1*28, UGT1A1*36',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28, UGT1A1*36',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28, UGT1A1*36',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'}],\n", - " 'PMC3946470': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'}],\n", - " 'PMC10411392': [{'variant_id': 'POR deficiency',\n", - " 'gene': 'POR',\n", - " 'allele': None}],\n", - " 'PMC6631360': [{'variant_id': 'rs1402467', 'gene': 'SULT1C4', 'allele': 'G'},\n", - " {'variant_id': 'rs6922548', 'gene': 'PPARD', 'allele': 'G'},\n", - " {'variant_id': 'rs7769719', 'gene': 'PPARD', 'allele': 'G'},\n", - " {'variant_id': 'rs2016520', 'gene': 'PPARD', 'allele': 'C'},\n", - " {'variant_id': 'rs1871450', 'gene': 'CHST3', 'allele': 'A'},\n", - " {'variant_id': 'rs1883322', 'gene': 'PPARD', 'allele': 'C'},\n", - " {'variant_id': 'rs12418', 'gene': 'CHST3', 'allele': 'A'},\n", - " {'variant_id': 'rs4148943', 'gene': 'CHST3', 'allele': 'C'},\n", - " {'variant_id': 'rs4148945', 'gene': 'CHST3', 'allele': 'C'},\n", - " {'variant_id': 'rs3734254', 'gene': 'PPARD', 'allele': 'T'},\n", - " {'variant_id': 'rs4148947', 'gene': 'CHST3', 'allele': 'T'},\n", - " {'variant_id': 'rs4148950', 'gene': 'CHST3', 'allele': 'A'},\n", - " {'variant_id': 'rs730720', 'gene': 'CHST3', 'allele': 'C'},\n", - " {'variant_id': 'rs12960', 'gene': 'RPL13, SNORD68, SPG7', 'allele': 'G'},\n", - " {'variant_id': 'rs1871450', 'gene': 'CHST3', 'allele': 'A'},\n", - " {'variant_id': 'rs1799931', 'gene': 'NAT2', 'allele': 'G'},\n", - " {'variant_id': 'rs4646487', 'gene': 'CYP4B1', 'allele': 'T'},\n", - " {'variant_id': 'rs2292954', 'gene': 'SPG7', 'allele': 'A'},\n", - " {'variant_id': 'rs2238472', 'gene': 'ABCC6', 'allele': 'C'},\n", - " {'variant_id': 'rs2227291', 'gene': 'ATP7A', 'allele': 'G'},\n", - " {'variant_id': 'rs4148945', 'gene': 'CHST3', 'allele': 'C'},\n", - " {'variant_id': 'rs2301159', 'gene': 'SLC10A2', 'allele': 'A'},\n", - " {'variant_id': 'rs4148950', 'gene': 'CHST3', 'allele': 'A'}],\n", - " 'PMC3513412': [{'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)/HTTLPR long form (L allele)'},\n", - " {'variant_id': 'rs1800795', 'gene': 'IL6', 'allele': 'CC'}],\n", - " 'PMC8841796': [{'variant_id': 'CYP3A4*22',\n", - " 'gene': 'CYP3A4',\n", - " 'allele': '*22/*22'}],\n", - " 'PMC10272067': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3 + *2/*17 + *1/*17'}],\n", - " 'PMC3279131': [{'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)'}],\n", - " 'PMC6313513': [{'variant_id': 'rs6935207', 'gene': 'SLC22A1', 'allele': 'A'},\n", - " {'variant_id': 'rs6935207', 'gene': 'SLC22A1', 'allele': 'A'},\n", - " {'variant_id': 'rs6935207', 'gene': 'SLC22A1', 'allele': 'A'}],\n", - " 'PMC5766375': [{'variant_id': 'CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3 + *1/*6 + *1/*7'}],\n", - " 'PMC8833506': [{'variant_id': 'CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3 + *1/*6 + *1/*7'}],\n", - " 'PMC9125581': [{'variant_id': 'HLA-B*07:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*07:02'},\n", - " {'variant_id': 'HLA-C*07:02', 'gene': 'HLA-C', 'allele': '*07:02'}],\n", - " 'PMC8909027': [{'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*6 + *1/*28 + *6/*28 + *6/*6 + *28/*28'}],\n", - " 'PMC3189112': [{'variant_id': 'HLA-B*58:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*58:01'}],\n", - " 'PMC3740059': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3'}],\n", - " 'PMC4921119': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*3/*3'}],\n", - " 'PMC10214954': [{'variant_id': 'TPMT*3C', 'gene': 'TPMT', 'allele': '*3C'},\n", - " {'variant_id': 'rs2281547', 'gene': 'XDH', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs1127354', 'gene': 'ITPA', 'allele': 'AC'},\n", - " {'variant_id': 'rs2281547', 'gene': 'XDH', 'allele': 'CC + CT'}],\n", - " 'PMC10244018': [{'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'}],\n", - " 'PMC8917764': [{'variant_id': 'CYP2D6 poor metabolizers and intermediate metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor metabolizers and intermediate metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC10288459': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*4'}],\n", - " 'PMC10298094': [{'variant_id': 'CYP2C8*1, CYP2C8*2, CYP2C8*3, CYP2C8*4',\n", - " 'gene': 'CYP2C8',\n", - " 'allele': '*2 + *3 + *4'},\n", - " {'variant_id': 'DPYD Reference', 'gene': 'DPYD', 'allele': 'Reference'}],\n", - " 'PMC8376784': [{'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CC'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CC'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CC'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CC'}],\n", - " 'PMC5972163': [{'variant_id': 'CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'}],\n", - " 'PMC8602035': [{'variant_id': 'HLA-B*15:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*56:02', 'gene': 'HLA-B', 'allele': '*56:02'},\n", - " {'variant_id': 'HLA-B*51:01', 'gene': 'HLA-B', 'allele': '*51:01'},\n", - " {'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'HLA-B*08:01', 'gene': 'HLA-B', 'allele': '*08:01'},\n", - " {'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'HLA-B*13:01', 'gene': 'HLA-B', 'allele': '*13:01'},\n", - " {'variant_id': 'HLA-B*15:21', 'gene': 'HLA-B', 'allele': '*15:21'}],\n", - " 'PMC10582655': [{'variant_id': 'HLA-C*01:02',\n", - " 'gene': 'HLA-C',\n", - " 'allele': '*01:02'},\n", - " {'variant_id': 'HLA-B*46:01', 'gene': 'HLA-B', 'allele': '*46:01'}],\n", - " 'PMC3417133': [{'variant_id': 'SLCO1B1*1, SLCO1B1*5',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*5'},\n", - " {'variant_id': 'SLCO1B1*1, SLCO1B1*5', 'gene': 'SLCO1B1', 'allele': '*5'}],\n", - " 'PMC3028503': [{'variant_id': 'rs2230345',\n", - " 'gene': 'GRK5',\n", - " 'allele': 'AT + TT'}],\n", - " 'PMC11042465': [{'variant_id': 'SLCO1B1*1, SLCO1B1*5',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*1/*5'}],\n", - " 'PMC4574842': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'},\n", - " {'variant_id': 'rs75017182', 'gene': 'DPYD', 'allele': 'CG'},\n", - " {'variant_id': 'rs17376848', 'gene': 'DPYD', 'allele': 'AG'},\n", - " {'variant_id': 'rs895819', 'gene': 'MIR27A', 'allele': 'CC'},\n", - " {'variant_id': 'rs2297595', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC3597465': [{'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'GG'},\n", - " {'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'GG'},\n", - " {'variant_id': 'rs6265', 'gene': 'BDNF', 'allele': 'C'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs6265', 'gene': 'BDNF', 'allele': 'CC'},\n", - " {'variant_id': 'rs6265', 'gene': 'BDNF', 'allele': 'C'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'A'}],\n", - " 'PMC4729652': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28'},\n", - " {'variant_id': 'rs2306283', 'gene': 'SLCO1B1', 'allele': 'GG'},\n", - " {'variant_id': 'rs10929302', 'gene': 'UGT1A1', 'allele': 'AA'}],\n", - " 'PMC3750958': [{'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'TT'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'TT'}],\n", - " 'PMC3358736': [{'variant_id': 'rs2717162',\n", - " 'gene': 'GALR1',\n", - " 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs2717162', 'gene': 'GALR1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs2717162', 'gene': 'GALR1', 'allele': 'CC + CT'}],\n", - " 'PMC10350251': [{'variant_id': 'NUDT15*2, NUDT15*3, NUDT15*5, NUDT15*6',\n", - " 'gene': 'NUDT15',\n", - " 'allele': '*2 + *3 + *5 + *6'},\n", - " {'variant_id': 'NUDT15*2, NUDT15*3', 'gene': 'NUDT15', 'allele': '*2/*3'},\n", - " {'variant_id': 'rs1127354', 'gene': 'ITPA', 'allele': 'AC'}],\n", - " 'PMC2954689': [{'variant_id': 'HLA-DQB1*06:02',\n", - " 'gene': 'HLA-DQB1',\n", - " 'allele': '*06:02'}],\n", - " 'PMC3248605': [{'variant_id': 'HLA-DQB1*06:02',\n", - " 'gene': 'HLA-DQB1',\n", - " 'allele': '*06:02'}],\n", - " 'PMC10361978': [{'variant_id': 'CYP2B6*1, CYP2B6*4, CYP2B6*5, CYP2B6*6, CYP2B6*22',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*1/*6 + *6/*6 + *4/*6 + *5/*6'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*4, CYP2B6*5, CYP2B6*6, CYP2B6*22',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*1/*1 + *1/*5 + *1/*4 + *1/*22'}],\n", - " 'PMC10352989': [{'variant_id': 'poor metabolizer',\n", - " 'gene': None,\n", - " 'allele': None},\n", - " {'variant_id': 'CYP3A4*1, CYP3A4*22', 'gene': 'CYP3A4', 'allele': '*22'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*3'}],\n", - " 'PMC4803136': [{'variant_id': 'rs3737967', 'gene': 'MTHFR', 'allele': 'GG'},\n", - " {'variant_id': 'rs2274976', 'gene': 'MTHFR', 'allele': 'CC'},\n", - " {'variant_id': 'rs17264736', 'gene': 'ABCC1', 'allele': 'GG + GT'},\n", - " {'variant_id': 'rs1017860', 'gene': 'NFATC1', 'allele': 'CC'},\n", - " {'variant_id': 'rs4781712', 'gene': 'ABCC1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs8090560', 'gene': 'NFATC1', 'allele': 'GG'},\n", - " {'variant_id': 'rs34965641', 'gene': 'DHFR', 'allele': 'GG'},\n", - " {'variant_id': 'rs2177735', 'gene': 'ATIC', 'allele': 'AA'},\n", - " {'variant_id': 'rs6123048', 'gene': 'NFATC2', 'allele': 'AA'},\n", - " {'variant_id': 'rs4818789', 'gene': 'SLC19A1', 'allele': 'TT'},\n", - " {'variant_id': 'rs4819128', 'gene': 'SLC19A1', 'allele': 'TT'},\n", - " {'variant_id': 'rs1051266', 'gene': 'SLC19A1', 'allele': 'CC'},\n", - " {'variant_id': 'rs17514110', 'gene': 'ATIC', 'allele': 'CC'},\n", - " {'variant_id': 'rs3787186', 'gene': 'NFATC2', 'allele': 'TT'},\n", - " {'variant_id': 'rs3740065', 'gene': 'ABCC2', 'allele': 'AA'},\n", - " {'variant_id': 'rs8058040', 'gene': 'ABCC1', 'allele': 'AA'}],\n", - " 'PMC5859084': [{'variant_id': 'rs55633228', 'gene': 'PIK3R2', 'allele': 'T'},\n", - " {'variant_id': 'rs117101815', 'gene': 'PERP', 'allele': 'T'},\n", - " {'variant_id': 'rs3805945', 'gene': 'PPP2R5D', 'allele': 'C'},\n", - " {'variant_id': 'rs77769901', 'gene': 'CCNK', 'allele': 'G'},\n", - " {'variant_id': 'rs118129530', 'gene': 'PIK3R2', 'allele': 'A'},\n", - " {'variant_id': 'rs148013902', 'gene': 'PIK3R2', 'allele': 'T'},\n", - " {'variant_id': 'rs145623321', 'gene': 'PIK3R2', 'allele': 'T'},\n", - " {'variant_id': 'rs117458836', 'gene': 'CYP2C8', 'allele': 'A'},\n", - " {'variant_id': 'rs74743371', 'gene': 'CBR3', 'allele': 'T'},\n", - " {'variant_id': 'rs118088833', 'gene': 'TP53AIP1', 'allele': 'T'},\n", - " {'variant_id': 'rs112242273', 'gene': 'GNL3', 'allele': 'T'},\n", - " {'variant_id': 'rs181501757', 'gene': 'TOP2A', 'allele': 'A'},\n", - " {'variant_id': 'rs9402944', 'gene': 'PERP', 'allele': 'T'},\n", - " {'variant_id': 'rs112783657', 'gene': 'CBR3', 'allele': 'T'},\n", - " {'variant_id': 'rs149212925', 'gene': 'NOS1', 'allele': 'G'},\n", - " {'variant_id': 'rs58695150', 'gene': 'PIK3R2', 'allele': 'T'},\n", - " {'variant_id': 'rs150688309', 'gene': 'PIK3R2', 'allele': 'G'},\n", - " {'variant_id': 'rs299293', 'gene': 'HMMR', 'allele': 'T'},\n", - " {'variant_id': 'rs9389568', 'gene': 'PERP', 'allele': 'C'},\n", - " {'variant_id': 'rs144991623', 'gene': 'FOXO1', 'allele': 'T'},\n", - " {'variant_id': 'rs8110364', 'gene': 'PIK3R2', 'allele': 'A'},\n", - " {'variant_id': 'rs117341846', 'gene': 'PIK3R2', 'allele': 'T'},\n", - " {'variant_id': 'rs115457081', 'gene': 'IRS1', 'allele': 'A'},\n", - " {'variant_id': 'rs142244113', 'gene': 'INSR', 'allele': 'T'},\n", - " {'variant_id': 'rs79430272', 'gene': 'PIK3R2', 'allele': 'T'},\n", - " {'variant_id': 'rs4968187', 'gene': 'TP53', 'allele': 'T'},\n", - " {'variant_id': 'rs117951771', 'gene': 'PIK3R2', 'allele': 'T'},\n", - " {'variant_id': 'rs148235907', 'gene': 'PIK3R2', 'allele': 'A'},\n", - " {'variant_id': 'rs299313', 'gene': 'HMMR', 'allele': 'A'},\n", - " {'variant_id': 'rs299314', 'gene': 'HMMR', 'allele': 'C'},\n", - " {'variant_id': 'rs41412545', 'gene': 'INSR', 'allele': 'A'},\n", - " {'variant_id': 'rs56022120', 'gene': 'PIK3R2', 'allele': 'T'},\n", - " {'variant_id': 'rs138602176', 'gene': 'PIK3R2', 'allele': 'A'},\n", - " {'variant_id': 'rs78428806', 'gene': 'PERP', 'allele': 'A'},\n", - " {'variant_id': 'rs141084494', 'gene': 'RBX1', 'allele': 'A'}],\n", - " 'PMC6752748': [{'variant_id': 'rs746071566',\n", - " 'gene': 'NUDT15',\n", - " 'allele': 'GGAGTC'},\n", - " {'variant_id': 'rs746071566', 'gene': 'NUDT15', 'allele': 'del'},\n", - " {'variant_id': 'rs116855232', 'gene': 'NUDT15', 'allele': 'T'}],\n", - " 'PMC1786217': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC4369993': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC4230293': [{'variant_id': 'CYP2D6*1, CYP2D6*4, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*4 + *1/*10 + *4/*10 + *10/*10 + *4/*4'}],\n", - " 'PMC3902809': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*1 + *1/*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2 + *3/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1 + *2 + *3 + *17'}],\n", - " 'PMC4063287': [{'variant_id': 'SLCO1B1*15, SLCO1B1*37',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*15/*15'},\n", - " {'variant_id': 'SLCO1B1*1, SLCO1B1*15, SLCO1B1*37',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*1/*15'},\n", - " {'variant_id': 'SLCO1B1*1, SLCO1B1*15',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*1/*15'},\n", - " {'variant_id': 'SLCO1B1*1, SLCO1B1*15',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*15/*15'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'T'},\n", - " {'variant_id': 'rs2231137', 'gene': 'ABCG2', 'allele': 'T'},\n", - " {'variant_id': 'rs17222723', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs8187710', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CT'}],\n", - " 'PMC4760893': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *2/*3 + *1/*3 + *2/*17'}],\n", - " 'PMC4567270': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'T'}],\n", - " 'PMC6394110': [{'variant_id': 'UGT1A1*6, UGT1A1*28, UGT1A1*37',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28 + *37 + *6'}],\n", - " 'PMC2865761': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'}],\n", - " 'PMC3261355': [{'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'CC'},\n", - " {'variant_id': 'rs61162043', 'gene': None, 'allele': 'G'}],\n", - " 'PMC4413440': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'}],\n", - " 'PMC3785800': [{'variant_id': 'UGT1A1*1, UGT1A1*28, UGT1A1*36, UGT1A1*37',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*36 + *28/*36 + *36/*37 + *1/*1'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28, UGT1A1*36, UGT1A1*37',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*36 + *28/*36 + *36/*37 + *1/*1 + *1/*28 + *1/*37 + *28/*28 + *28/*37'}],\n", - " 'PMC2683398': [{'variant_id': 'CYP2C9*1, CYP2C9*2',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*6', 'gene': 'CYP2C9', 'allele': '*6'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*11', 'gene': 'CYP2C9', 'allele': '*11'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*5', 'gene': 'CYP2C9', 'allele': '*5'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'}],\n", - " 'PMC2525499': [{'variant_id': 'rs2072661', 'gene': 'CHRNB2', 'allele': 'GG'}],\n", - " 'PMC4991479': [{'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'G'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'A'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'A'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'G'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'}],\n", - " 'PMC2679414': [{'variant_id': 'rs3736228', 'gene': 'LRP5', 'allele': 'T'},\n", - " {'variant_id': 'rs3736228', 'gene': 'LRP5', 'allele': 'T'},\n", - " {'variant_id': 'rs4355801', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs4355801', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs3736228', 'gene': 'LRP5', 'allele': 'T'},\n", - " {'variant_id': 'rs4355801', 'gene': None, 'allele': 'G'}],\n", - " 'PMC2713584': [{'variant_id': 'rs2301149',\n", - " 'gene': 'KCNIP1, KCNMB1',\n", - " 'allele': 'C'},\n", - " {'variant_id': 'rs11739136', 'gene': 'KCNIP1, KCNMB1', 'allele': 'CT + TT'}],\n", - " 'PMC3897654': [{'variant_id': 'rs1057868', 'gene': 'POR', 'allele': 'C'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*3/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*3/*3'},\n", - " {'variant_id': 'rs2242480', 'gene': 'CYP3A4', 'allele': 'C/C'},\n", - " {'variant_id': 'rs2242480', 'gene': 'CYP3A4', 'allele': 'C/C'},\n", - " {'variant_id': 'rs4646437', 'gene': 'CYP3A4', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs165599', 'gene': 'COMT', 'allele': 'A'},\n", - " {'variant_id': 'rs1800871', 'gene': 'IL10', 'allele': 'A'},\n", - " {'variant_id': 'rs1800896', 'gene': 'IL10', 'allele': 'CT'},\n", - " {'variant_id': 'rs1800872', 'gene': 'IL10', 'allele': 'G'},\n", - " {'variant_id': 'rs2868177', 'gene': 'POR', 'allele': 'A'},\n", - " {'variant_id': 'rs4646312', 'gene': 'COMT', 'allele': 'C'},\n", - " {'variant_id': 'rs2239393', 'gene': 'COMT', 'allele': 'A'},\n", - " {'variant_id': 'rs737865', 'gene': 'COMT', 'allele': 'A'},\n", - " {'variant_id': 'rs6267', 'gene': 'COMT', 'allele': 'G'},\n", - " {'variant_id': 'rs4680', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs4646437', 'gene': 'CYP3A4', 'allele': 'GG'},\n", - " {'variant_id': 'rs1800872', 'gene': 'IL10', 'allele': 'TT'},\n", - " {'variant_id': 'rs1800871', 'gene': 'IL10', 'allele': 'AA'}],\n", - " 'PMC4936837': [{'variant_id': 'rs2279343',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs2279343', 'gene': 'CYP2B6', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs3211371', 'gene': 'CYP2B6', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'GT + TT'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'GT + TT'},\n", - " {'variant_id': 'rs3211371', 'gene': 'CYP2B6', 'allele': 'CT + TT'}],\n", - " 'PMC4716887': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*3/*3'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*3 + *3/*3'}],\n", - " 'PMC404497': [{'variant_id': 'rs1800497',\n", - " 'gene': 'ANKK1',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC6028015': [{'variant_id': 'CYP2D6 poor metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC3760448': [{'variant_id': 'rs3740065', 'gene': 'ABCC2', 'allele': 'AG'},\n", - " {'variant_id': 'rs717620', 'gene': 'ABCC2', 'allele': 'CT'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AG'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'C'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AG'}],\n", - " 'PMC3746507': [{'variant_id': 'rs113993960',\n", - " 'gene': 'CFTR',\n", - " 'allele': 'del/del'},\n", - " {'variant_id': 'rs113993960', 'gene': 'CFTR', 'allele': 'del/del'}],\n", - " 'PMC5372085': [{'variant_id': 'HLA-B*07:02, HLA-B*15:21',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:21'}],\n", - " 'PMC5753619': [{'variant_id': 'HLA-B*18:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*18:01'},\n", - " {'variant_id': 'HLA-B*15:21', 'gene': 'HLA-B', 'allele': '*15:21'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'}],\n", - " 'PMC4652259': [{'variant_id': 'HLA-B*59:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*59:01'}],\n", - " 'PMC5370513': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'},\n", - " {'variant_id': 'rs4148323', 'gene': 'UGT1A1', 'allele': 'A'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*1 + *1/*28'},\n", - " {'variant_id': 'rs4148323', 'gene': 'UGT1A1', 'allele': 'A'},\n", - " {'variant_id': 'rs4148323', 'gene': 'UGT1A1', 'allele': 'A'}],\n", - " 'PMC3834081': [{'variant_id': 'CYP2A6*1, CYP2A6*9',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*9'}],\n", - " 'PMC3834031': [{'variant_id': 'CYP2C9*1, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'}],\n", - " 'PMC5298525': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'},\n", - " {'variant_id': 'rs762551', 'gene': 'CYP1A2', 'allele': 'AA'},\n", - " {'variant_id': 'rs762551', 'gene': 'CYP1A2', 'allele': 'AA'},\n", - " {'variant_id': 'rs1137101', 'gene': 'LEPR', 'allele': 'AG + GG'}],\n", - " 'PMC2570505': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'}],\n", - " 'PMC3946972': [{'variant_id': 'CYP2A6 high activity',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2A6 high activity', 'gene': 'CYP2A6', 'allele': None},\n", - " {'variant_id': 'CYP2A6 low activity', 'gene': 'CYP2A6', 'allele': None}],\n", - " 'PMC6710506': [{'variant_id': 'HLA-B*56:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*56:02'}],\n", - " 'PMC6562829': [{'variant_id': 'CYP2D6 poor metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor and ultrarapid metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC8033847': [{'variant_id': 'rs1799752',\n", - " 'gene': 'ACE',\n", - " 'allele': 'ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC'},\n", - " {'variant_id': 'rs71103505',\n", - " 'gene': 'BDKRB2',\n", - " 'allele': '(GGTGGGGAC)2/(GGTGGGGAC)2 + (GGTGGGGAC)2/GGTGGGGACGGTGGGGACGGTGGGGAC'},\n", - " {'variant_id': 'rs1799722', 'gene': 'BDKRB2', 'allele': 'T'}],\n", - " 'PMC2869454': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*3'}],\n", - " 'PMC3710507': [{'variant_id': 'HLA-B*38:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*38:02'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'}],\n", - " 'PMC5600660': [{'variant_id': 'rs1799752', 'gene': 'ACE', 'allele': 'del'},\n", - " {'variant_id': 'rs7412', 'gene': 'APOE', 'allele': 'C'},\n", - " {'variant_id': 'rs429358', 'gene': 'APOE', 'allele': 'C'},\n", - " {'variant_id': 'rs699', 'gene': 'AGT', 'allele': 'G'}],\n", - " 'PMC5634569': [{'variant_id': 'UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'},\n", - " {'variant_id': 'rs4124874', 'gene': 'UGT1A1', 'allele': 'GG'}],\n", - " 'PMC2679107': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'}],\n", - " 'PMC5798660': [{'variant_id': 'HLA-A*24:02',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*24:02'},\n", - " {'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-A*31:01', 'gene': 'HLA-A', 'allele': '*31:01'},\n", - " {'variant_id': 'HLA-A*31:01', 'gene': 'HLA-A', 'allele': '*31:01'},\n", - " {'variant_id': 'rs78239784', 'gene': 'CFHR4', 'allele': 'G'}],\n", - " 'PMC3920089': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28'},\n", - " {'variant_id': 'rs10929302', 'gene': 'UGT1A1', 'allele': 'A'},\n", - " {'variant_id': 'rs2070959', 'gene': 'UGT1A6', 'allele': 'A'},\n", - " {'variant_id': 'rs11692021', 'gene': 'UGT1A9', 'allele': 'C'},\n", - " {'variant_id': 'rs6759892', 'gene': 'UGT1A9', 'allele': 'G'},\n", - " {'variant_id': 'rs1105879', 'gene': 'UGT1A6', 'allele': 'C'}],\n", - " 'PMC3860862': [{'variant_id': 'CYP2C9*1, CYP2C9*2',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'}],\n", - " 'PMC6361127': [{'variant_id': 'UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*60',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*60 + *60/*60'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*60',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*60 + *60/*60'},\n", - " {'variant_id': 'UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*60',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*60 + *60/*60'}],\n", - " 'PMC2536127': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC1472539': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AG'}],\n", - " 'PMC3020258': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*1/*3'}],\n", - " 'PMC2919234': [{'variant_id': 'rs7799039', 'gene': 'LEP', 'allele': 'A'}],\n", - " 'PMC3085844': [{'variant_id': 'rs3212986', 'gene': 'ERCC1', 'allele': 'A'},\n", - " {'variant_id': 'rs13181', 'gene': 'ERCC2', 'allele': 'G'},\n", - " {'variant_id': 'rs1799793', 'gene': 'ERCC2', 'allele': 'T'},\n", - " {'variant_id': 'rs11615', 'gene': 'ERCC1', 'allele': 'G'}],\n", - " 'PMC7786995': [{'variant_id': 'rs569356', 'gene': 'OPRD1', 'allele': 'G'},\n", - " {'variant_id': 'rs702764', 'gene': 'OPRK1', 'allele': 'C'},\n", - " {'variant_id': 'rs963549', 'gene': 'OPRK1', 'allele': 'T'},\n", - " {'variant_id': 'rs678849', 'gene': 'OPRD1', 'allele': 'T'},\n", - " {'variant_id': 'rs2236857', 'gene': 'OPRD1', 'allele': 'C'},\n", - " {'variant_id': 'rs1042114', 'gene': 'OPRD1', 'allele': 'G'},\n", - " {'variant_id': 'rs421300', 'gene': 'OPRD1', 'allele': 'G'},\n", - " {'variant_id': 'rs2298896', 'gene': 'OPRD1', 'allele': 'G'},\n", - " {'variant_id': 'rs12749204', 'gene': 'OPRD1', 'allele': 'G'},\n", - " {'variant_id': 'rs529520', 'gene': 'OPRD1', 'allele': 'C'},\n", - " {'variant_id': 'rs2236855', 'gene': 'OPRD1', 'allele': 'A'},\n", - " {'variant_id': 'rs548646', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs997917', 'gene': 'OPRK1', 'allele': 'C'},\n", - " {'variant_id': 'rs12675595', 'gene': 'OPRK1', 'allele': 'A'},\n", - " {'variant_id': 'rs2234918', 'gene': 'OPRD1', 'allele': 'T'},\n", - " {'variant_id': 'rs1051660', 'gene': 'OPRK1', 'allele': 'A'},\n", - " {'variant_id': 'rs6985606', 'gene': 'OPRK1', 'allele': 'T'},\n", - " {'variant_id': 'rs1381376', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs3778156', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs671531', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs2075572', 'gene': 'OPRM1', 'allele': 'C'},\n", - " {'variant_id': 'rs609148', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs524731', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs3823010', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs511435', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs648893', 'gene': 'OPRM1', 'allele': 'G'}],\n", - " 'PMC3242600': [{'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'TT'}],\n", - " 'PMC3113609': [{'variant_id': 'HLA-A*31:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*31:01'},\n", - " {'variant_id': 'HLA-A*31:01', 'gene': 'HLA-A', 'allele': '*31:01'},\n", - " {'variant_id': 'HLA-A*31:01', 'gene': 'HLA-A', 'allele': '*31:01'}],\n", - " 'PMC5389420': [{'variant_id': 'DPYD low activity',\n", - " 'gene': 'DPYD',\n", - " 'allele': None}],\n", - " 'PMC4839824': [{'variant_id': 'TPMT*1, TPMT*3C',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*3C'}],\n", - " 'PMC3787223': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*3/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*3/*3'}],\n", - " 'PMC4175895': [{'variant_id': 'CYP2C9*1, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3'}],\n", - " 'PMC3894785': [{'variant_id': 'TPMT*1, TPMT*2, TPMT*3A, TPMT*3C',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*2 + *1/*3A + *1/*3C'},\n", - " {'variant_id': 'TPMT*1, TPMT*2, TPMT*3A, TPMT*3C',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*2 + *1/*3A + *1/*3C'}],\n", - " 'PMC6817966': [{'variant_id': 'CYP2C9*1, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'rs987237', 'gene': 'TFAP2B', 'allele': 'G'},\n", - " {'variant_id': 'rs1867785', 'gene': 'EPAS1', 'allele': 'G'}],\n", - " 'PMC2824234': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*1'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*1/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*1/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*1/*4'}],\n", - " 'PMC1226035': [{'variant_id': 'rs121918596',\n", - " 'gene': 'RYR1',\n", - " 'allele': 'GAG'}],\n", - " 'PMC3263719': [{'variant_id': 'CYP2D6*4, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*41'},\n", - " {'variant_id': 'CYP2D6*10', 'gene': 'CYP2D6', 'allele': '*10/*10'}],\n", - " 'PMC4696942': [{'variant_id': 'HLA-B*44:03',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*44:03'},\n", - " {'variant_id': 'HLA-B*58:01', 'gene': 'HLA-B', 'allele': '*58:01'}],\n", - " 'PMC2014246': [{'variant_id': 'CYP2D6*1, CYP2D6*5, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*5/*10'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'}],\n", - " 'PMC2602733': [{'variant_id': 'rs56293913',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs2297595', 'gene': 'DPYD', 'allele': 'CC + CT'}],\n", - " 'PMC4220988': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': None},\n", - " {'variant_id': 'GSTT1 non-null, GSTT1 null',\n", - " 'gene': 'GSTT1',\n", - " 'allele': None},\n", - " {'variant_id': 'rs4880', 'gene': 'SOD2', 'allele': 'AA + AG'}],\n", - " 'PMC2796561': [{'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)/HTTLPR long form (L allele)'}],\n", - " 'PMC4992991': [{'variant_id': 'HLA-DQA1*01:02',\n", - " 'gene': 'HLA-DQA1',\n", - " 'allele': '*01:02'},\n", - " {'variant_id': 'HLA-DQB1*02:01', 'gene': 'HLA-DQB1', 'allele': '*02:01'}],\n", - " 'PMC2824479': [{'variant_id': 'rs71103505',\n", - " 'gene': 'BDKRB2',\n", - " 'allele': '(GGTGGGGAC)2/(GGTGGGGAC)2'},\n", - " {'variant_id': 'rs1799752',\n", - " 'gene': 'ACE',\n", - " 'allele': 'ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC'},\n", - " {'variant_id': 'rs1046248', 'gene': 'BDKRB2', 'allele': 'T'}],\n", - " 'PMC4358736': [{'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)/HTTLPR long form (L allele)'},\n", - " {'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR long form (L allele)/HTTLPR long form (L allele)'},\n", - " {'variant_id': 'rs57098334', 'gene': None, 'allele': '(CCCACCCGA)12'},\n", - " {'variant_id': 'rs25531', 'gene': 'SLC6A4', 'allele': 'C'}],\n", - " 'PMC4077673': [{'variant_id': 'rs9340799', 'gene': 'ESR1', 'allele': 'GG'}],\n", - " 'PMC4831372': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC6986167': [{'variant_id': 'CYP2C19*1, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*17 + *17/*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*17 + *17/*17'}],\n", - " 'PMC4833150': [{'variant_id': 'rs2279343', 'gene': 'CYP2B6', 'allele': 'G'},\n", - " {'variant_id': 'rs4802101', 'gene': 'CYP2B6', 'allele': 'C'},\n", - " {'variant_id': 'rs4803419', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'A'},\n", - " {'variant_id': 'rs7254579', 'gene': 'CYP2B6', 'allele': 'C'},\n", - " {'variant_id': 'rs13059232', 'gene': 'NR1I2', 'allele': 'C'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'G'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'G'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'G'},\n", - " {'variant_id': 'rs2279343', 'gene': 'CYP2B6', 'allele': 'G'},\n", - " {'variant_id': 'rs13059232', 'gene': 'NR1I2', 'allele': 'T'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs4803419', 'gene': 'CYP2B6', 'allele': 'C'},\n", - " {'variant_id': 'rs4986893', 'gene': 'CYP2C19', 'allele': 'A'},\n", - " {'variant_id': 'rs4802101', 'gene': 'CYP2B6', 'allele': 'C'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'A'}],\n", - " 'PMC11418216': [{'variant_id': 'rs2231137', 'gene': 'ABCG2', 'allele': 'CT'},\n", - " {'variant_id': 'rs182420', 'gene': 'SULT2A1', 'allele': 'CC'}],\n", - " 'PMC6435416': [{'variant_id': 'CYP2D6 poor metabolizer and intermediate metabolizer genotypes',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC2532664': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC1143572': [{'variant_id': 'CYP2D6*1',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*1'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*4 + *4/*4'},\n", - " {'variant_id': 'rs1042028', 'gene': 'SULT1A1', 'allele': 'CC'}],\n", - " 'PMC2760462': [{'variant_id': 'CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*3 + *6 + *7'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*3 + *6 + *7'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA'}],\n", - " 'PMC5355161': [{'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'A'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'G'}],\n", - " 'PMC3235041': [{'variant_id': 'CYP2C19*1, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17', 'gene': 'CYP2C19', 'allele': '*17'}],\n", - " 'PMC4579807': [{'variant_id': 'HLA-B*58:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*58:01'}],\n", - " 'PMC11677811': [{'variant_id': 'rs1799793',\n", - " 'gene': 'ERCC2',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs4793665', 'gene': 'ABCC3', 'allele': 'TT'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'GG'}],\n", - " 'PMC1262758': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC4304738': [{'variant_id': 'CYP2C9*1, CYP2C9*2',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*2 + *2/*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3 + *2/*3'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'TT'},\n", - " {'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'TT'}],\n", - " 'PMC1841640': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC1629693': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC1840490': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC4514347': [{'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28 + *6/*6 + *1/*6 + *1/*28'},\n", - " {'variant_id': 'rs4148323', 'gene': 'UGT1A1', 'allele': 'AA + AG'}],\n", - " 'PMC4067047': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'CYP4F2*1, CYP4F2*3',\n", - " 'gene': 'CYP4F2',\n", - " 'allele': '*1/*3 + *3/*3'},\n", - " {'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'CYP4F2*1, CYP4F2*3', 'gene': 'CYP4F2', 'allele': '*3'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'}],\n", - " 'PMC10318569': [{'variant_id': 'rs73823859',\n", - " 'gene': 'UGT2B7',\n", - " 'allele': 'A'}],\n", - " 'PMC10339303': [{'variant_id': 'rs671',\n", - " 'gene': 'ALDH2',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC3879795': [{'variant_id': 'CYP2C9*1, CYP2C9*8',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*8'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*8', 'gene': 'CYP2C9', 'allele': '*8'}],\n", - " 'PMC3611934': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4'},\n", - " {'variant_id': 'UGT2B7', 'gene': 'UGT2B7', 'allele': '*2/*2'},\n", - " {'variant_id': 'CYP2D6 poor metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC2673121': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'}],\n", - " 'PMC5098919': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *2/*2'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*3 + *3/*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3 + *3/*3'},\n", - " {'variant_id': 'rs2242480', 'gene': 'CYP3A4', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1934980', 'gene': 'CYP2C8', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs17110453', 'gene': 'CYP2C8', 'allele': 'AC + CC'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'CC + CT'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *2/*2'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'CC + CT'}],\n", - " 'PMC7501182': [{'variant_id': 'UGT2B17 deficiency',\n", - " 'gene': 'UGT2B17',\n", - " 'allele': None},\n", - " {'variant_id': 'UGT2B17 deficiency', 'gene': 'UGT2B17', 'allele': None},\n", - " {'variant_id': 'UGT2B17 deficiency', 'gene': 'UGT2B17', 'allele': None}],\n", - " 'PMC10327396': [{'variant_id': 'rs4728709', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs4148738', 'gene': 'ABCB1', 'allele': 'CC'},\n", - " {'variant_id': 'rs4728709', 'gene': 'ABCB1', 'allele': 'GG'}],\n", - " 'PMC6245894': [{'variant_id': 'rs880395', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs1948', 'gene': 'CHRNB4', 'allele': 'A'},\n", - " {'variant_id': 'rs4887074', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs16969968', 'gene': 'CHRNA3, CHRNA5', 'allele': 'A'}],\n", - " 'PMC4168188': [{'variant_id': 'CYP2C9*1, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'AA'}],\n", - " 'PMC3291182': [{'variant_id': 'CYP2D6*1, CYP2D6*4, CYP2D6*5, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10 + *4/*10 + *5/*10'}],\n", - " 'PMC5306492': [{'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs730154', 'gene': 'CYP19A1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs11849538', 'gene': 'TCL1A', 'allele': 'CG + GG'},\n", - " {'variant_id': 'rs749292', 'gene': 'CYP19A1', 'allele': 'AA'},\n", - " {'variant_id': 'rs727479', 'gene': 'CYP19A1', 'allele': 'CC'},\n", - " {'variant_id': 'rs749292', 'gene': 'CYP19A1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1008805', 'gene': 'CYP19A1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs727479', 'gene': 'CYP19A1', 'allele': 'AA'},\n", - " {'variant_id': 'rs7159713', 'gene': 'TCL1A', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1008805', 'gene': 'CYP19A1', 'allele': 'GG'},\n", - " {'variant_id': 'rs730154', 'gene': 'CYP19A1', 'allele': 'TT'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'AA'}],\n", - " 'PMC4917605': [{'variant_id': 'NAT2*4', 'gene': 'NAT2', 'allele': '*4'},\n", - " {'variant_id': 'NAT2*4, NAT2*6', 'gene': 'NAT2', 'allele': '*6'}],\n", - " 'PMC5710192': [{'variant_id': 'rs143414470', 'gene': 'ANK3', 'allele': 'T'},\n", - " {'variant_id': 'rs144470777', 'gene': 'NSUN3', 'allele': 'C'},\n", - " {'variant_id': 'rs187805828', 'gene': 'PHC1', 'allele': 'C'},\n", - " {'variant_id': 'rs116134453', 'gene': 'FAT1', 'allele': 'T'},\n", - " {'variant_id': 'rs141531882', 'gene': 'TENM4', 'allele': 'C'},\n", - " {'variant_id': 'rs77475703', 'gene': 'CD96', 'allele': 'C'},\n", - " {'variant_id': 'rs117484357', 'gene': 'ZMIZ1', 'allele': 'C'},\n", - " {'variant_id': 'rs138385713', 'gene': 'VPS13D', 'allele': 'G'},\n", - " {'variant_id': 'rs141213385', 'gene': 'CCDC77', 'allele': 'G'},\n", - " {'variant_id': 'rs117308378', 'gene': 'ADGRG7', 'allele': 'T'},\n", - " {'variant_id': 'rs75267292', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs146898897', 'gene': 'SSU72', 'allele': 'C'},\n", - " {'variant_id': 'rs185346775', 'gene': 'MAN1A1', 'allele': 'A'},\n", - " {'variant_id': 'rs72765700', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs10024471', 'gene': 'MIR2054', 'allele': 'A'},\n", - " {'variant_id': 'rs117876855', 'gene': 'SPRY2', 'allele': 'A'},\n", - " {'variant_id': 'rs139544515', 'gene': 'SPRY2', 'allele': 'A'},\n", - " {'variant_id': 'rs185217050', 'gene': 'NCOA7', 'allele': 'T'},\n", - " {'variant_id': 'rs139368788', 'gene': 'CCDC70', 'allele': 'A'},\n", - " {'variant_id': 'rs117412990', 'gene': 'TMEM131L', 'allele': 'G'},\n", - " {'variant_id': 'rs191934521', 'gene': 'SIRPA', 'allele': 'G'},\n", - " {'variant_id': 'rs146644707', 'gene': 'LMNTD1', 'allele': 'T'}],\n", - " 'PMC3596857': [{'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs3211371', 'gene': 'CYP2B6', 'allele': 'CC'},\n", - " {'variant_id': 'rs28399499', 'gene': 'CYP2B6', 'allele': 'CT'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs28399499', 'gene': 'CYP2B6', 'allele': 'C'}],\n", - " 'PMC3263869': [{'variant_id': 'rs6265', 'gene': 'BDNF', 'allele': 'C'},\n", - " {'variant_id': 'rs2815752', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs1801282', 'gene': 'PPARG', 'allele': 'G'},\n", - " {'variant_id': 'rs1801282', 'gene': 'PPARG', 'allele': 'G'}],\n", - " 'PMC3260968': [{'variant_id': 'rs5751876',\n", - " 'gene': 'ADORA2A',\n", - " 'allele': 'TT'}],\n", - " 'PMC3686845': [{'variant_id': 'rs35599367',\n", - " 'gene': 'CYP3A4',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC3160494': [{'variant_id': 'rs1649942', 'gene': 'NRG3', 'allele': 'G'}],\n", - " 'PMC3192752': [{'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'C'}],\n", - " 'PMC5823653': [{'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3'},\n", - " {'variant_id': 'rs3740066', 'gene': 'ABCC2', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1801516', 'gene': 'ATM', 'allele': 'AA'},\n", - " {'variant_id': 'rs1056836', 'gene': 'CYP1B1', 'allele': 'CC'},\n", - " {'variant_id': 'rs1801516', 'gene': 'ATM', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs3212986', 'gene': 'ERCC1', 'allele': 'AA'},\n", - " {'variant_id': 'rs20572', 'gene': 'CBR1', 'allele': 'TT'},\n", - " {'variant_id': 'rs1042522', 'gene': 'TP53', 'allele': 'GG'},\n", - " {'variant_id': 'rs714368', 'gene': 'SLC22A16', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs25487', 'gene': 'XRCC1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs12248560', 'gene': 'CYP2C19', 'allele': 'CC'},\n", - " {'variant_id': 'rs3740066', 'gene': 'ABCC2', 'allele': 'TT'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GT'},\n", - " {'variant_id': 'rs2228100', 'gene': 'ALDH3A1', 'allele': 'CG + GG'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'GG'},\n", - " {'variant_id': 'rs6907567', 'gene': 'SLC22A16', 'allele': 'AA'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs1801159', 'gene': 'DPYD', 'allele': 'TT'},\n", - " {'variant_id': 'rs11615', 'gene': 'ERCC1', 'allele': 'AG + GG'}],\n", - " 'PMC5711795': [{'variant_id': 'rs67624739',\n", - " 'gene': 'CHRNA5',\n", - " 'allele': 'del'},\n", - " {'variant_id': 'rs55853698', 'gene': 'CHRNA5', 'allele': 'G'},\n", - " {'variant_id': 'rs55781567', 'gene': 'CHRNA5', 'allele': 'G'},\n", - " {'variant_id': 'rs503464', 'gene': 'CHRNA5', 'allele': 'A'},\n", - " {'variant_id': 'rs2236196', 'gene': 'CHRNA4', 'allele': 'G'},\n", - " {'variant_id': 'rs16969968', 'gene': 'CHRNA3, CHRNA5', 'allele': 'A'},\n", - " {'variant_id': 'rs2072661', 'gene': 'CHRNB2', 'allele': 'A'},\n", - " {'variant_id': 'rs67624739', 'gene': 'CHRNA5', 'allele': 'del'},\n", - " {'variant_id': 'rs55781567', 'gene': 'CHRNA5', 'allele': 'G'},\n", - " {'variant_id': 'rs16969968', 'gene': 'CHRNA5', 'allele': 'A'},\n", - " {'variant_id': 'rs2236196', 'gene': 'CHRNA4', 'allele': 'G'},\n", - " {'variant_id': 'rs503464', 'gene': 'CHRNA5', 'allele': 'A'},\n", - " {'variant_id': 'rs55853698', 'gene': 'CHRNA5', 'allele': 'G'},\n", - " {'variant_id': 'rs2072661', 'gene': 'CHRNB2', 'allele': 'A'}],\n", - " 'PMC3055635': [{'variant_id': 'rs5751876', 'gene': 'ADORA2A', 'allele': 'TT'},\n", - " {'variant_id': 'rs2267076', 'gene': 'ADORA2A', 'allele': 'TT'},\n", - " {'variant_id': 'rs3761422', 'gene': 'ADORA2A', 'allele': 'TT'},\n", - " {'variant_id': 'rs11704959', 'gene': None, 'allele': 'AC'},\n", - " {'variant_id': 'rs2298383', 'gene': 'ADORA2A', 'allele': 'CC'},\n", - " {'variant_id': 'rs5760405', 'gene': 'SPECC1L', 'allele': 'TT'},\n", - " {'variant_id': 'rs5751862', 'gene': 'SPECC1L', 'allele': 'AA'}],\n", - " 'PMC4599525': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'}],\n", - " 'PMC3548984': [{'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*3 + *4/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*6',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*3 + *1/*4 + *1/*6'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*10, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*10 + *1/*41 + *10/*10 + *41/*41'}],\n", - " 'PMC2699901': [{'variant_id': 'rs1799978', 'gene': 'DRD2', 'allele': 'C'},\n", - " {'variant_id': 'rs1800497', 'gene': 'ANKK1', 'allele': 'AA + AG'}],\n", - " 'PMC3681433': [{'variant_id': 'CYP2D6*1, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10, CYP2D6*14',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*1 + *1/*2 + *2/*2'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'}],\n", - " 'PMC2884029': [{'variant_id': 'rs7311358', 'gene': 'SLCO1B3', 'allele': 'A'},\n", - " {'variant_id': 'rs7311358', 'gene': 'SLCO1B3', 'allele': 'A'},\n", - " {'variant_id': 'rs4149117', 'gene': 'SLCO1B3', 'allele': 'G'},\n", - " {'variant_id': 'rs4149117', 'gene': 'SLCO1B3', 'allele': 'G'}],\n", - " 'PMC4209173': [{'variant_id': 'CYP2C9*1, CYP2C9*2',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'CT'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'}],\n", - " 'PMC2000724': [{'variant_id': 'CYP2D6*1, CYP2D6*4, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10 + *4'}],\n", - " 'PMC3788742': [{'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*35, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3 + *4 + *5 + *10 + *41'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*35, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3 + *4 + *5 + *10 + *41'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*35, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3 + *4 + *5 + *10 + *41'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*35, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3 + *4 + *5 + *10 + *41'}],\n", - " 'PMC2603295': [{'variant_id': 'rs1050828',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1050828', 'gene': 'G6PD', 'allele': 'CT + TT'}],\n", - " 'PMC2714371': [{'variant_id': 'rs6603859', 'gene': 'SZRD1', 'allele': 'T'},\n", - " {'variant_id': 'rs7929521', 'gene': None, 'allele': 'GG'},\n", - " {'variant_id': 'rs3750518', 'gene': 'MAN1B1', 'allele': 'T'},\n", - " {'variant_id': 'rs10932125', 'gene': 'NRP2', 'allele': 'C'},\n", - " {'variant_id': 'rs10932125', 'gene': 'NRP2', 'allele': 'C'}],\n", - " 'PMC3610662': [{'variant_id': 'CYP2D6*1, CYP2D6*1xN, CYP2D6*2, CYP2D6*2xN, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*7',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*4 + *4/*4 + *4/*5 + *4/*6 + *4/*7'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*7',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*4 + *4/*4 + *4/*5 + *4/*6 + *4/*7'}],\n", - " 'PMC3249195': [{'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*6',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4 + *4/*6'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4 + *3/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*6',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4 + *4/*6'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*3, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4 + *3/*4'}],\n", - " 'PMC6571425': [{'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'T'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC2572782': [{'variant_id': 'NAT1*4, NAT1*11B',\n", - " 'gene': 'NAT1',\n", - " 'allele': '*11B/*4'},\n", - " {'variant_id': 'NAT1*10, NAT1*11A', 'gene': 'NAT1', 'allele': '*10/*11A'},\n", - " {'variant_id': 'NAT1*4, NAT1*10', 'gene': 'NAT1', 'allele': '*10/*4'},\n", - " {'variant_id': 'NAT1*3, NAT1*11B', 'gene': 'NAT1', 'allele': '*11B/*3'},\n", - " {'variant_id': 'NAT1*10', 'gene': 'NAT1', 'allele': '*10/*10'},\n", - " {'variant_id': 'NAT1*10, NAT1*11B', 'gene': 'NAT1', 'allele': '*10/*11B'},\n", - " {'variant_id': 'NAT1*4, NAT1*11A', 'gene': 'NAT1', 'allele': '*11A/*4'},\n", - " {'variant_id': 'rs2066853', 'gene': 'AHR', 'allele': 'AA + AG'}],\n", - " 'PMC5736261': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC3760990': [{'variant_id': 'CYP2D6*1, CYP2D6*2',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*2 + *2/*2'},\n", - " {'variant_id': 'CYP2C8*1, CYP2C8*2',\n", - " 'gene': 'CYP2C8',\n", - " 'allele': '*1/*2 + *2/*2'}],\n", - " 'PMC6403100': [{'variant_id': 'DPYD deficiency',\n", - " 'gene': 'DPYD',\n", - " 'allele': None}],\n", - " 'PMC3307155': [{'variant_id': 'rs8099917', 'gene': 'IFNL3', 'allele': 'TT'},\n", - " {'variant_id': 'rs1127354', 'gene': 'ITPA', 'allele': 'CC'},\n", - " {'variant_id': 'rs1127354', 'gene': 'ITPA', 'allele': 'CC'},\n", - " {'variant_id': 'rs8099917', 'gene': 'IFNL3', 'allele': 'TT'}],\n", - " 'PMC4704657': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*3'}],\n", - " 'PMC5207541': [{'variant_id': 'CYP2C9*1, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'CT + TT'}],\n", - " 'PMC5467955': [{'variant_id': 'HLA-DRB1*08:02',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*08:02'},\n", - " {'variant_id': 'HLA-DRB1*12:02', 'gene': 'HLA-DRB1', 'allele': '*12:02'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*54:01', 'gene': 'HLA-B', 'allele': '*54:01'},\n", - " {'variant_id': 'HLA-B*46:01', 'gene': 'HLA-B', 'allele': '*46:01'},\n", - " {'variant_id': 'HLA-B*51:02', 'gene': 'HLA-B', 'allele': '*51:02'},\n", - " {'variant_id': 'HLA-C*01:02', 'gene': 'HLA-C', 'allele': '*01:02'},\n", - " {'variant_id': 'HLA-C*03:04', 'gene': 'HLA-C', 'allele': '*03:04'},\n", - " {'variant_id': 'HLA-DRB1*08:03', 'gene': 'HLA-DRB1', 'allele': '*08:03'},\n", - " {'variant_id': 'HLA-C*15:05', 'gene': 'HLA-C', 'allele': '*15:05'},\n", - " {'variant_id': 'HLA-B*13:01', 'gene': 'HLA-B', 'allele': '*13:01'},\n", - " {'variant_id': 'HLA-A*29:01', 'gene': 'HLA-A', 'allele': '*29:01'},\n", - " {'variant_id': 'HLA-B*07:05', 'gene': 'HLA-B', 'allele': '*07:05'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*13:25', 'gene': 'HLA-B', 'allele': '*13:25'},\n", - " {'variant_id': 'HLA-B*15:01', 'gene': 'HLA-B', 'allele': '*15:01'},\n", - " {'variant_id': 'HLA-B*38:02', 'gene': 'HLA-B', 'allele': '*38:02'},\n", - " {'variant_id': 'HLA-B*40:02', 'gene': 'HLA-B', 'allele': '*40:02'},\n", - " {'variant_id': 'HLA-DRB1*11:01', 'gene': 'HLA-DRB1', 'allele': '*11:01'},\n", - " {'variant_id': 'HLA-DRB1*09:01', 'gene': 'HLA-DRB1', 'allele': '*09:01'},\n", - " {'variant_id': 'HLA-DRB1*15:01', 'gene': 'HLA-DRB1', 'allele': '*15:01'},\n", - " {'variant_id': 'HLA-DRB1*15:02', 'gene': 'HLA-DRB1', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-DRB1*14:54', 'gene': 'HLA-DRB1', 'allele': '*14:54'},\n", - " {'variant_id': 'HLA-DRB1*16:02', 'gene': 'HLA-DRB1', 'allele': '*16:02'},\n", - " {'variant_id': 'HLA-A*02:01', 'gene': 'HLA-A', 'allele': '*02:01'},\n", - " {'variant_id': 'HLA-A*24:02', 'gene': 'HLA-A', 'allele': '*24:02'},\n", - " {'variant_id': 'HLA-A*02:07', 'gene': 'HLA-A', 'allele': '*02:07'},\n", - " {'variant_id': 'HLA-A*11:01', 'gene': 'HLA-A', 'allele': '*11:01'},\n", - " {'variant_id': 'HLA-A*02:03', 'gene': 'HLA-A', 'allele': '*02:03'},\n", - " {'variant_id': 'HLA-A*02:06', 'gene': 'HLA-A', 'allele': '*02:06'},\n", - " {'variant_id': 'HLA-B*55:02', 'gene': 'HLA-B', 'allele': '*55:02'},\n", - " {'variant_id': 'HLA-B*56:01', 'gene': 'HLA-B', 'allele': '*56:01'},\n", - " {'variant_id': 'HLA-C*03:03', 'gene': 'HLA-C', 'allele': '*03:03'},\n", - " {'variant_id': 'HLA-C*04:01', 'gene': 'HLA-C', 'allele': '*04:01'},\n", - " {'variant_id': 'HLA-C*07:02', 'gene': 'HLA-C', 'allele': '*07:02'},\n", - " {'variant_id': 'HLA-C*08:01', 'gene': 'HLA-C', 'allele': '*08:01'},\n", - " {'variant_id': 'HLA-B*35:01', 'gene': 'HLA-B', 'allele': '*35:01'},\n", - " {'variant_id': 'HLA-B*40:01', 'gene': 'HLA-B', 'allele': '*40:01'},\n", - " {'variant_id': 'HLA-DRB1*12:01', 'gene': 'HLA-DRB1', 'allele': '*12:01'}],\n", - " 'PMC3607698': [{'variant_id': 'rs1864729', 'gene': None, 'allele': 'A'}],\n", - " 'PMC4506516': [{'variant_id': 'HLA-DRB1*08:03',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*08:03'},\n", - " {'variant_id': 'HLA-B*38:02', 'gene': 'HLA-B', 'allele': '*38:02'}],\n", - " 'PMC6249237': [{'variant_id': 'DPYD low activity',\n", - " 'gene': 'DPYD',\n", - " 'allele': None},\n", - " {'variant_id': 'UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28/*28'}],\n", - " 'PMC2012941': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'}],\n", - " 'PMC7423633': [{'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': None}],\n", - " 'PMC3411889': [{'variant_id': 'rs10033464', 'gene': None, 'allele': 'GG'},\n", - " {'variant_id': 'rs10033464', 'gene': None, 'allele': 'GT + TT'}],\n", - " 'PMC2268970': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3 +*17'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'C'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3 +*4 + *5 + *6'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'G'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'G'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'C'},\n", - " {'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'T'}],\n", - " 'PMC6041857': [{'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3'}],\n", - " 'PMC4937952': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3'}],\n", - " 'PMC4930967': [{'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*6 + *28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *6/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*6/*6 + *1/*6 + *6/*28'}],\n", - " 'PMC5600645': [{'variant_id': 'HLA-DRB3*01:01',\n", - " 'gene': 'HLA-DRB3',\n", - " 'allele': '*01:01'}],\n", - " 'PMC4570031': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'}],\n", - " 'PMC5331771': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17', 'gene': 'CYP2C19', 'allele': '*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17', 'gene': 'CYP2C19', 'allele': '*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17', 'gene': 'CYP2C19', 'allele': '*17'},\n", - " {'variant_id': 'rs2046934', 'gene': 'P2RY12', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs2046934', 'gene': 'P2RY12', 'allele': 'AG + GG'}],\n", - " 'PMC3349071': [{'variant_id': 'CYP2A6*1, CYP2A6*4, CYP2A6*9, CYP2A6*10',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*4 + *10 + *9'}],\n", - " 'PMC4964997': [{'variant_id': 'rs121918596', 'gene': 'RYR1', 'allele': 'del'},\n", - " {'variant_id': 'rs727504129', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs121918596', 'gene': 'RYR1', 'allele': 'del'},\n", - " {'variant_id': 'rs727504129', 'gene': 'RYR1', 'allele': 'T'}],\n", - " 'PMC4478047': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'C'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'}],\n", - " 'PMC3154335': [{'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*5/*10 + *10/*10 + *1/*10 + *1/*5'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*5/*10'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*5/*10'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*5/*10'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*5, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*5/*10'}],\n", - " 'PMC5806861': [{'variant_id': 'rs961253', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs20417', 'gene': 'PTGS2', 'allele': 'C'},\n", - " {'variant_id': 'rs5275', 'gene': 'PTGS2', 'allele': 'A'},\n", - " {'variant_id': 'rs5277', 'gene': 'PTGS2', 'allele': 'G'},\n", - " {'variant_id': 'rs11694911', 'gene': 'ODC1', 'allele': 'C'},\n", - " {'variant_id': 'rs4648310', 'gene': 'PTGS2', 'allele': 'T'},\n", - " {'variant_id': 'rs2745557', 'gene': 'PTGS2', 'allele': 'A'},\n", - " {'variant_id': 'rs2302615', 'gene': 'ODC1', 'allele': 'C'},\n", - " {'variant_id': 'rs2430420', 'gene': 'ODC1', 'allele': 'A'},\n", - " {'variant_id': 'rs4936367', 'gene': 'PAFAH1B2', 'allele': 'A'},\n", - " {'variant_id': 'rs7112513', 'gene': 'PAFAH1B2', 'allele': 'A'},\n", - " {'variant_id': 'rs3842787', 'gene': 'PTGS1', 'allele': 'C'},\n", - " {'variant_id': 'rs2619112', 'gene': 'ALOX15', 'allele': 'C'},\n", - " {'variant_id': 'rs230490', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs11986055', 'gene': 'IKBKB', 'allele': 'A'},\n", - " {'variant_id': 'rs12910333', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs10958713', 'gene': 'IKBKB', 'allele': 'C'},\n", - " {'variant_id': 'rs5029748', 'gene': 'IKBKB', 'allele': 'G'},\n", - " {'variant_id': 'rs5995355', 'gene': 'NCF4', 'allele': 'A'},\n", - " {'variant_id': 'rs6474387', 'gene': 'IKBKB', 'allele': 'C'},\n", - " {'variant_id': 'rs6983267', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs28362380', 'gene': 'ODC1', 'allele': 'C'},\n", - " {'variant_id': 'rs1105879', 'gene': 'UGT1A6', 'allele': 'AC + CC'},\n", - " {'variant_id': 'rs2070959', 'gene': 'UGT1A6', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs1799853', 'gene': 'CYP2C9', 'allele': 'C'},\n", - " {'variant_id': 'rs1057910', 'gene': 'CYP2C9', 'allele': 'A'},\n", - " {'variant_id': 'rs7349744', 'gene': 'HPGD', 'allele': 'A'},\n", - " {'variant_id': 'rs17239025', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs2965667', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs6683455', 'gene': 'IL23R', 'allele': 'T'}],\n", - " 'PMC3536666': [{'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*10, CYP2D6*114',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*10, CYP2D6*114',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'}],\n", - " 'PMC4137829': [{'variant_id': 'rs1065852', 'gene': 'CYP2D6', 'allele': 'A'},\n", - " {'variant_id': 'rs1074145', 'gene': None, 'allele': 'A'}],\n", - " 'PMC2903324': [{'variant_id': 'CYP3A4*1, CYP3A4*3',\n", - " 'gene': 'CYP3A4',\n", - " 'allele': '*1 + *3'},\n", - " {'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': 'null/null'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28/*28'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GG'},\n", - " {'variant_id': 'rs11615', 'gene': 'ERCC1', 'allele': 'GG'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'GG'},\n", - " {'variant_id': 'rs25487', 'gene': 'XRCC1', 'allele': 'CC'},\n", - " {'variant_id': 'rs10929302', 'gene': 'UGT1A1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1801265', 'gene': 'DPYD', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs1801159', 'gene': 'DPYD', 'allele': 'CC + CT'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28/*28'},\n", - " {'variant_id': 'CYP3A4*1, CYP3A4*3', 'gene': 'CYP3A4', 'allele': '*1 + *3'},\n", - " {'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': 'null/null'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs1801159', 'gene': 'DPYD', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs1801265', 'gene': 'DPYD', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs25487', 'gene': 'XRCC1', 'allele': 'CC'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GG'},\n", - " {'variant_id': 'rs11615', 'gene': 'ERCC1', 'allele': 'GG'},\n", - " {'variant_id': 'rs10929302', 'gene': 'UGT1A1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'AA'}],\n", - " 'PMC3660078': [{'variant_id': 'rs10509681', 'gene': 'CYP2C8', 'allele': 'C'}],\n", - " 'PMC7444994': [{'variant_id': 'HLA-B*57:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*57:01'}],\n", - " 'PMC3090085': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*4', 'gene': 'CYP2C19', 'allele': '*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17', 'gene': 'CYP2C19', 'allele': '*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19 poor metabolizers',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'A'}],\n", - " 'PMC4017868': [{'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR short form (S allele)/HTTLPR short form (S allele)'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1799732', 'gene': 'DRD2', 'allele': 'GG'}],\n", - " 'PMC2480976': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'}],\n", - " 'PMC2630264': [{'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'rs3814637', 'gene': 'CYP2C19', 'allele': 'C'},\n", - " {'variant_id': 'rs4917639', 'gene': 'CYP2C9', 'allele': 'A'},\n", - " {'variant_id': 'rs2359612', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'},\n", - " {'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3/*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2/*2 + *2/*3 + *3/*3'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'TT'}],\n", - " 'PMC5414099': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2'}],\n", - " 'PMC3207003': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*41', 'gene': 'CYP2D6', 'allele': '*41'},\n", - " {'variant_id': 'CYP2D6*17', 'gene': 'CYP2D6', 'allele': '*17'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*10', 'gene': 'CYP2D6', 'allele': '*10'},\n", - " {'variant_id': 'CYP2D6*3', 'gene': 'CYP2D6', 'allele': '*3'},\n", - " {'variant_id': 'CYP2D6*1', 'gene': 'CYP2D6', 'allele': '*1'},\n", - " {'variant_id': 'CYP2D6*6', 'gene': 'CYP2D6', 'allele': '*6'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*5', 'gene': 'CYP2D6', 'allele': '*5'}],\n", - " 'PMC4226857': [{'variant_id': 'HLA-B*40:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*40:01'},\n", - " {'variant_id': 'HLA-B*35:05', 'gene': 'HLA-B', 'allele': '*35:05'}],\n", - " 'PMC6439872': [{'variant_id': 'rs746071566',\n", - " 'gene': 'NUDT15',\n", - " 'allele': 'del'},\n", - " {'variant_id': 'rs11969064', 'gene': None, 'allele': 'T'}],\n", - " 'PMC554812': [{'variant_id': 'HLA-B*58:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*58:01'},\n", - " {'variant_id': 'HLA-DRB1*03:01', 'gene': 'HLA-DRB1', 'allele': '*03:01'},\n", - " {'variant_id': 'HLA-C*03:02', 'gene': 'HLA-C', 'allele': '*03:02'},\n", - " {'variant_id': 'HLA-A*33:03', 'gene': 'HLA-A', 'allele': '*33:03'},\n", - " {'variant_id': 'rs1594', 'gene': 'CFLAR', 'allele': 'A'}],\n", - " 'PMC3859235': [{'variant_id': 'rs35068180',\n", - " 'gene': 'MMP3',\n", - " 'allele': 'del/del'},\n", - " {'variant_id': 'rs35068180', 'gene': 'MMP3', 'allele': 'AA'}],\n", - " 'PMC1617109': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC2265313': [{'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR short form (S allele)'}],\n", - " 'PMC2432488': [{'variant_id': 'SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR short form (S allele)'}],\n", - " 'PMC6767867': [{'variant_id': 'rs11322783',\n", - " 'gene': 'IFNL4',\n", - " 'allele': 'TT/TT'},\n", - " {'variant_id': 'rs11322783', 'gene': 'IFNL4', 'allele': 'TT/TT'}],\n", - " 'PMC5533497': [{'variant_id': 'CYP2D6 poor and ultrarapid metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor and ultrarapid metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC3394799': [{'variant_id': 'CYP2B6*1, CYP2B6*6',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*6'}],\n", - " 'PMC3776990': [{'variant_id': 'UGT1A1*60', 'gene': 'UGT1A1', 'allele': '*60'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*4 + *7 + *9'},\n", - " {'variant_id': 'UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*6'},\n", - " {'variant_id': 'UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'UGT1A6*2a', 'gene': 'UGT1A6', 'allele': '*2a'},\n", - " {'variant_id': 'UGT1A7*3', 'gene': 'UGT1A7', 'allele': '*3'},\n", - " {'variant_id': 'UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*6'},\n", - " {'variant_id': 'CYP2A6*1, CYP2A6*4, CYP2A6*7, CYP2A6*9',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*4 + *7 + *9'},\n", - " {'variant_id': 'UGT1A7*3', 'gene': 'UGT1A7', 'allele': '*3'},\n", - " {'variant_id': 'UGT1A1*60', 'gene': 'UGT1A1', 'allele': '*60'},\n", - " {'variant_id': 'UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'UGT1A7*3', 'gene': 'UGT1A7', 'allele': '*3'},\n", - " {'variant_id': 'CYP2A6*4, CYP2A6*7, CYP2A6*9',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*4 + *7 + *9'},\n", - " {'variant_id': 'UGT1A6*2a', 'gene': 'UGT1A6', 'allele': '*2a'},\n", - " {'variant_id': 'UGT1A6*2a', 'gene': 'UGT1A6', 'allele': '*2a'},\n", - " {'variant_id': 'UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*6'},\n", - " {'variant_id': 'UGT1A1*60', 'gene': 'UGT1A1', 'allele': '*60'},\n", - " {'variant_id': 'UGT1A7*3', 'gene': 'UGT1A7', 'allele': '*3'},\n", - " {'variant_id': 'UGT1A6*2a', 'gene': 'UGT1A6', 'allele': '*2a'}],\n", - " 'PMC5065384': [{'variant_id': 'CYP2B6*1, CYP2B6*6',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*6/*6'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*6', 'gene': 'CYP2B6', 'allele': '*6/*6'}],\n", - " 'PMC2789741': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'}],\n", - " 'PMC4916189': [{'variant_id': 'CYP2B6*1, CYP2B6*9',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*9'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'GT + TT'},\n", - " {'variant_id': 'rs2472677', 'gene': 'NR1I2', 'allele': 'TT'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs28399499', 'gene': 'CYP2B6', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs4803419', 'gene': 'CYP2B6', 'allele': 'CT + TT'}],\n", - " 'PMC3805522': [{'variant_id': 'rs11479', 'gene': 'TYMP', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'AT'},\n", - " {'variant_id': 'rs75017182', 'gene': 'DPYD', 'allele': 'CG'},\n", - " {'variant_id': 'rs56038477', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs56038477', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs2236225', 'gene': 'MTHFD1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'AA'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'GG'},\n", - " {'variant_id': 'rs1801019', 'gene': 'UMPS', 'allele': 'CC'},\n", - " {'variant_id': 'rs2072671', 'gene': 'CDA', 'allele': 'CC'},\n", - " {'variant_id': 'rs112723255', 'gene': 'TYMP', 'allele': 'TT'},\n", - " {'variant_id': 'rs11479', 'gene': 'TYMP', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs1979277', 'gene': 'SHMT1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'AT'},\n", - " {'variant_id': 'rs75017182', 'gene': 'DPYD', 'allele': 'CG'}],\n", - " 'PMC7368113': [{'variant_id': 'rs11280056',\n", - " 'gene': 'TYMS',\n", - " 'allele': 'TTA/TTA'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'}],\n", - " 'PMC7230684': [{'variant_id': 'rs11280056',\n", - " 'gene': 'TYMS',\n", - " 'allele': 'TTA/TTA'},\n", - " {'variant_id': 'rs1051266', 'gene': 'SLC19A1', 'allele': 'TT'}],\n", - " 'PMC4744681': [{'variant_id': 'CYP2B6*1, CYP2B6*9',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*9/*9 + *1/*9'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'TT'}],\n", - " 'PMC4168388': [{'variant_id': 'CYP2D6*4, CYP2D6*5',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4 + *4/*5'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*1xN',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*1xN + *1xN/*1xN'},\n", - " {'variant_id': 'CYP3A7*1A, CYP3A7*1C',\n", - " 'gene': 'CYP3A7',\n", - " 'allele': '*1C/*1C'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'TT'},\n", - " {'variant_id': 'rs1057868', 'gene': 'POR', 'allele': 'TT'},\n", - " {'variant_id': 'rs1523130', 'gene': 'NR1I2', 'allele': 'CC'},\n", - " {'variant_id': 'rs2472677', 'gene': 'NR1I2', 'allele': 'TT'},\n", - " {'variant_id': 'rs7643645', 'gene': 'NR1I2', 'allele': 'AA'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs4646437', 'gene': 'CYP3A4', 'allele': 'GG'},\n", - " {'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'TT'},\n", - " {'variant_id': 'rs35599367', 'gene': 'CYP3A4', 'allele': 'GG'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'CC'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'CYP2D6*4, CYP2D6*5',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4 + *4/*5'}],\n", - " 'PMC2364770': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28'}],\n", - " 'PMC3376437': [{'variant_id': 'rs11045585', 'gene': 'SLCO1B3', 'allele': 'G'},\n", - " {'variant_id': 'rs7311358', 'gene': 'SLCO1B3', 'allele': 'A'},\n", - " {'variant_id': 'rs4149118', 'gene': 'SLCO1B3', 'allele': 'G'},\n", - " {'variant_id': 'rs3834935', 'gene': 'SLCO1B3', 'allele': 'A'},\n", - " {'variant_id': 'rs4149118', 'gene': 'SLCO1B3', 'allele': 'G'},\n", - " {'variant_id': 'rs11045585', 'gene': 'SLCO1B3', 'allele': 'G'},\n", - " {'variant_id': 'rs7311358', 'gene': 'SLCO1B3', 'allele': 'A'}],\n", - " 'PMC4196861': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'}],\n", - " 'PMC3125053': [{'variant_id': 'rs2279020', 'gene': 'GABRA1', 'allele': 'GG'},\n", - " {'variant_id': 'rs2279020', 'gene': 'GABRA1', 'allele': 'G'},\n", - " {'variant_id': 'rs211037', 'gene': 'GABRG2', 'allele': 'T'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'T'},\n", - " {'variant_id': 'rs2298771', 'gene': 'SCN1A', 'allele': 'C'},\n", - " {'variant_id': 'rs17183814', 'gene': 'SCN2A', 'allele': 'A'}],\n", - " 'PMC4256153': [{'variant_id': 'CYP2C8*2, CYP2C8*3, CYP2C8*4',\n", - " 'gene': 'CYP2C8',\n", - " 'allele': '*2 + *3 + *4'},\n", - " {'variant_id': 'rs492338', 'gene': 'ABCG1', 'allele': 'AA'},\n", - " {'variant_id': 'rs492338', 'gene': 'ABCG1', 'allele': 'AA'}],\n", - " 'PMC3706603': [{'variant_id': 'HLA-A*30:02',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*30:02'},\n", - " {'variant_id': 'HLA-B*18:01', 'gene': 'HLA-B', 'allele': '*18:01'},\n", - " {'variant_id': 'HLA-DRB1*15:01', 'gene': 'HLA-DRB1', 'allele': '*15:01'},\n", - " {'variant_id': 'HLA-DQB1*06:02', 'gene': 'HLA-DQB1', 'allele': '*06:02'}],\n", - " 'PMC7264743': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC2757655': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*11',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3 + *5 + *6 + *11'},\n", - " {'variant_id': 'rs7294', 'gene': 'VKORC1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs8050894', 'gene': 'VKORC1', 'allele': 'CG + GG'},\n", - " {'variant_id': 'rs2359612', 'gene': 'VKORC1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*11',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3 + *5 + *6 + *11'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*11',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3 + *5 + *6 + *11'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*11',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3 + *5 + *6 + *11'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'AA + AG'}],\n", - " 'PMC4111800': [{'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*10, CYP2D6*17, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*17 + *3/*4 + *4/*10 + *4/*17 + *4/*4 + *4/*41 + *4/*5 + *4/*6 + *5/*10 + *5/*17'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*1xN, CYP2D6*2, CYP2D6*2xN, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*10, CYP2D6*17, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*17 + *3/*4 + *4/*10 + *4/*17 + *4/*4 + *4/*41 + *4/*5 + *4/*6 + *5/*10 + *5/*17'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*1xN, CYP2D6*2, CYP2D6*2xN, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*10, CYP2D6*17, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*17 + *3/*4 + *4/*10 + *4/*17 + *4/*4 + *4/*41 + *4/*5 + *4/*6 + *5/*10 + *5/*17'}],\n", - " 'PMC4038630': [{'variant_id': 'HLA-DRB1*08:02',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*08:02'},\n", - " {'variant_id': 'HLA-DQB1*04:02', 'gene': 'HLA-DQB1', 'allele': '*04:02'}],\n", - " 'PMC5628515': [{'variant_id': 'TPMT deficiency',\n", - " 'gene': 'TPMT',\n", - " 'allele': None},\n", - " {'variant_id': 'ABCC4 deficiency', 'gene': 'ABCC4', 'allele': None},\n", - " {'variant_id': 'ABCC4 deficiency', 'gene': 'ABCC4', 'allele': None},\n", - " {'variant_id': 'TPMT deficiency', 'gene': 'TPMT', 'allele': None}],\n", - " 'PMC42614': [{'variant_id': 'TPMT*2', 'gene': 'TPMT', 'allele': '*2'},\n", - " {'variant_id': 'TPMT*1, TPMT*2', 'gene': 'TPMT', 'allele': '*2'}],\n", - " 'PMC4772424': [{'variant_id': 'rs3211371', 'gene': 'CYP2B6', 'allele': 'CT'},\n", - " {'variant_id': 'rs3211371', 'gene': 'CYP2B6', 'allele': 'CT'}],\n", - " 'PMC3412624': [{'variant_id': 'rs1808458', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs11644322', 'gene': 'WWOX', 'allele': 'T'},\n", - " {'variant_id': 'rs11062040', 'gene': 'DCP1B', 'allele': 'T'},\n", - " {'variant_id': 'rs2900174', 'gene': 'PRB2', 'allele': 'G'},\n", - " {'variant_id': 'rs7771466', 'gene': 'IL17F', 'allele': 'AC'},\n", - " {'variant_id': 'rs763780', 'gene': 'IL17F', 'allele': 'CT'},\n", - " {'variant_id': 'rs179619', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs10736526', 'gene': 'UBASH3B', 'allele': 'T'},\n", - " {'variant_id': 'rs10883617', 'gene': 'BTRC', 'allele': 'C'},\n", - " {'variant_id': 'rs7149097', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs1910236', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs3744311', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs10489997', 'gene': 'BAZ2B', 'allele': 'T'},\n", - " {'variant_id': 'rs4785367', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs12361312', 'gene': 'MS4A2', 'allele': 'T'},\n", - " {'variant_id': 'rs2550731', 'gene': 'WWOX', 'allele': 'T'},\n", - " {'variant_id': 'rs490332', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs7712169', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs814951', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs306104', 'gene': 'CAMK4', 'allele': 'T'}],\n", - " 'PMC3189752': [{'variant_id': 'SLCO1B1*15',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*15/*15'},\n", - " {'variant_id': 'rs2306283', 'gene': 'SLCO1B1', 'allele': 'GG'}],\n", - " 'PMC1728095': [{'variant_id': 'HLA-DRB1*15:01',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*15:01'}],\n", - " 'PMC4526634': [{'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1933437', 'gene': 'FLT3', 'allele': 'AA'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'TT'},\n", - " {'variant_id': 'rs2305948', 'gene': 'KDR', 'allele': 'CT'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs2305948', 'gene': 'KDR', 'allele': 'T'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'TT'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1933437', 'gene': 'FLT3', 'allele': 'AA'}],\n", - " 'PMC4941738': [{'variant_id': 'rs1414334', 'gene': 'HTR2C', 'allele': 'C'}],\n", - " 'PMC4068832': [{'variant_id': 'rs3754446', 'gene': 'GSTM1', 'allele': 'C'},\n", - " {'variant_id': 'rs4148405', 'gene': 'ABCC3', 'allele': 'G'},\n", - " {'variant_id': 'rs3754446', 'gene': 'GSTM1', 'allele': 'C'}],\n", - " 'PMC3117061': [{'variant_id': 'rs1799972', 'gene': 'OPRM1', 'allele': 'TT'}],\n", - " 'PMC3663896': [{'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'A'}],\n", - " 'PMC5775044': [{'variant_id': 'CYP2C19 poor metabolizer and intermediate metabolizer genotypes',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None}],\n", - " 'PMC3900431': [{'variant_id': 'NAT2 slow acetylator',\n", - " 'gene': 'NAT2',\n", - " 'allele': None},\n", - " {'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': None},\n", - " {'variant_id': 'GSTT1 null', 'gene': 'GSTT1', 'allele': None},\n", - " {'variant_id': 'rs1799929', 'gene': 'NAT2', 'allele': 'CT'},\n", - " {'variant_id': 'rs2031920', 'gene': 'CYP2E1', 'allele': 'CT'}],\n", - " 'PMC2774340': [{'variant_id': 'HLA-C*03:02',\n", - " 'gene': 'HLA-C',\n", - " 'allele': '*03:02'},\n", - " {'variant_id': 'HLA-C*04:01', 'gene': 'HLA-C', 'allele': '*04:01'}],\n", - " 'PMC3435140': [{'variant_id': 'rs113993960',\n", - " 'gene': 'CFTR',\n", - " 'allele': 'del/del'}],\n", - " 'PMC6200138': [{'variant_id': 'rs45460698', 'gene': 'HTR3B', 'allele': 'del'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AG'}],\n", - " 'PMC3248259': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2 + *2/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2 + *2/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2 + *2/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2 + *2/*3'}],\n", - " 'PMC4958958': [{'variant_id': 'TPMT*1, TPMT*3A',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*3A'},\n", - " {'variant_id': 'TPMT*1, TPMT*3A', 'gene': 'TPMT', 'allele': '*1/*3A'},\n", - " {'variant_id': 'rs2413739', 'gene': 'PACSIN2', 'allele': 'TT'},\n", - " {'variant_id': 'rs10948059', 'gene': 'GNMT', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs10948059', 'gene': 'GNMT', 'allele': 'CT + TT'}],\n", - " 'PMC3387531': [{'variant_id': 'HLA-B*35:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*35:01'},\n", - " {'variant_id': 'HLA-DRB1*01:01', 'gene': 'HLA-DRB1', 'allele': '*01:01'},\n", - " {'variant_id': 'HLA-C*04:01', 'gene': 'HLA-C', 'allele': '*04:01'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs2054675', 'gene': 'CYP2B6', 'allele': 'C'},\n", - " {'variant_id': 'rs3786547', 'gene': 'CYP2B6', 'allele': 'C'}],\n", - " 'PMC4947582': [{'variant_id': 'HLA-B*58:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*58:01'}],\n", - " 'PMC5754284': [{'variant_id': 'UGT1A1*1, UGT1A1*27',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*27'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*1/*6'}],\n", - " 'PMC6275563': [{'variant_id': 'rs920829',\n", - " 'gene': 'TRPA1',\n", - " 'allele': 'CT + TT'}],\n", - " 'PMC4409020': [{'variant_id': 'NAT2 deficiency',\n", - " 'gene': 'NAT2',\n", - " 'allele': None},\n", - " {'variant_id': 'rs9877159', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs1775921', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs1801280', 'gene': 'NAT2', 'allele': 'T'},\n", - " {'variant_id': 'rs117421960', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs1208', 'gene': 'NAT2', 'allele': 'A'}],\n", - " 'PMC5561238': [{'variant_id': 'HLA-B*67:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*67:01'},\n", - " {'variant_id': 'HLA-B*78:01', 'gene': 'HLA-B', 'allele': '*78:01'},\n", - " {'variant_id': 'HLA-B*51:02', 'gene': 'HLA-B', 'allele': '*51:02'},\n", - " {'variant_id': 'HLA-B*56:06', 'gene': 'HLA-B', 'allele': '*56:06'},\n", - " {'variant_id': 'HLA-B*39:01', 'gene': 'HLA-B', 'allele': '*39:01'},\n", - " {'variant_id': 'HLA-C*05:09', 'gene': 'HLA-C', 'allele': '*05:09'},\n", - " {'variant_id': 'HLA-B*15:32', 'gene': 'HLA-B', 'allele': '*15:32'},\n", - " {'variant_id': 'HLA-C*05:01', 'gene': 'HLA-C', 'allele': '*05:01'},\n", - " {'variant_id': 'HLA-B*51:01', 'gene': 'HLA-B', 'allele': '*51:01'},\n", - " {'variant_id': 'HLA-B*15:35', 'gene': 'HLA-B', 'allele': '*15:35'},\n", - " {'variant_id': 'HLA-B*15:12', 'gene': 'HLA-B', 'allele': '*15:12'},\n", - " {'variant_id': 'HLA-DRB1*08:01', 'gene': 'HLA-DRB1', 'allele': '*08:01'},\n", - " {'variant_id': 'HLA-B*39:10', 'gene': 'HLA-B', 'allele': '*39:10'},\n", - " {'variant_id': 'HLA-B*38:02', 'gene': 'HLA-B', 'allele': '*38:02'},\n", - " {'variant_id': 'HLA-B*38:01', 'gene': 'HLA-B', 'allele': '*38:01'},\n", - " {'variant_id': 'HLA-DRB1*04:04', 'gene': 'HLA-DRB1', 'allele': '*04:04'},\n", - " {'variant_id': 'HLA-B*56:01', 'gene': 'HLA-B', 'allele': '*56:01'},\n", - " {'variant_id': 'HLA-B*35:05', 'gene': 'HLA-B', 'allele': '*35:05'},\n", - " {'variant_id': 'HLA-DRB1*01:02', 'gene': 'HLA-DRB1', 'allele': '*01:02'},\n", - " {'variant_id': 'HLA-B*39:09', 'gene': 'HLA-B', 'allele': '*39:09'},\n", - " {'variant_id': 'HLA-B*15:01', 'gene': 'HLA-B', 'allele': '*15:01'},\n", - " {'variant_id': 'HLA-B*15:27', 'gene': 'HLA-B', 'allele': '*15:27'},\n", - " {'variant_id': 'HLA-B*35:10', 'gene': 'HLA-B', 'allele': '*35:10'},\n", - " {'variant_id': 'HLA-C*04:06', 'gene': 'HLA-C', 'allele': '*04:06'},\n", - " {'variant_id': 'HLA-B*57:01', 'gene': 'HLA-B', 'allele': '*57:01'},\n", - " {'variant_id': 'HLA-C*04:07', 'gene': 'HLA-C', 'allele': '*04:07'},\n", - " {'variant_id': 'HLA-B*55:02', 'gene': 'HLA-B', 'allele': '*55:02'},\n", - " {'variant_id': 'HLA-DRB1*01:03', 'gene': 'HLA-DRB1', 'allele': '*01:03'},\n", - " {'variant_id': 'HLA-B*55:01', 'gene': 'HLA-B', 'allele': '*55:01'},\n", - " {'variant_id': 'HLA-B*13:02', 'gene': 'HLA-B', 'allele': '*13:02'},\n", - " {'variant_id': 'HLA-B*15:25', 'gene': 'HLA-B', 'allele': '*15:25'},\n", - " {'variant_id': 'HLA-B*39:06', 'gene': 'HLA-B', 'allele': '*39:06'},\n", - " {'variant_id': 'HLA-C*04:03', 'gene': 'HLA-C', 'allele': '*04:03'},\n", - " {'variant_id': 'HLA-B*54:01', 'gene': 'HLA-B', 'allele': '*54:01'},\n", - " {'variant_id': 'HLA-DRB1*01:01', 'gene': 'HLA-DRB1', 'allele': '*01:01'},\n", - " {'variant_id': 'HLA-B*52:01', 'gene': 'HLA-B', 'allele': '*52:01'},\n", - " {'variant_id': 'HLA-DRB1*10:01', 'gene': 'HLA-DRB1', 'allele': '*10:01'},\n", - " {'variant_id': 'HLA-C*04:01', 'gene': 'HLA-C', 'allele': '*04:01'},\n", - " {'variant_id': 'HLA-B*39:05', 'gene': 'HLA-B', 'allele': '*39:05'},\n", - " {'variant_id': 'HLA-C*18:01', 'gene': 'HLA-C', 'allele': '*18:01'},\n", - " {'variant_id': 'HLA-B*15:24', 'gene': 'HLA-B', 'allele': '*15:24'},\n", - " {'variant_id': 'rs28399499', 'gene': 'CYP2B6', 'allele': 'C'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'}],\n", - " 'PMC6511989': [{'variant_id': 'HLA-DQB1*06:02',\n", - " 'gene': 'HLA-DQB1',\n", - " 'allele': '*06:02'},\n", - " {'variant_id': 'HLA-C*06:02', 'gene': 'HLA-C', 'allele': '*06:02'},\n", - " {'variant_id': 'HLA-B*57:01', 'gene': 'HLA-B', 'allele': '*57:01'},\n", - " {'variant_id': 'HLA-DQB1*03:03', 'gene': 'HLA-DQB1', 'allele': '*03:03'},\n", - " {'variant_id': 'HLA-DRB1*15:01', 'gene': 'HLA-DRB1', 'allele': '*15:01'},\n", - " {'variant_id': 'rs72631546', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs2476601', 'gene': 'PTPN22', 'allele': 'A'},\n", - " {'variant_id': 'rs3129880', 'gene': 'HLA-DRA', 'allele': 'T'}],\n", - " 'PMC4190127': [{'variant_id': 'rs1615111', 'gene': 'AREG', 'allele': 'A'}],\n", - " 'PMC6175041': [{'variant_id': 'rs45445694',\n", - " 'gene': 'C18orf56, TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'}],\n", - " 'PMC7902344': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs12248560', 'gene': 'CYP2C19', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs12248560', 'gene': 'CYP2C19', 'allele': 'CT + TT'}],\n", - " 'PMC5763654': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'}],\n", - " 'PMC6498256': [{'variant_id': 'DPYD deficiency',\n", - " 'gene': 'DPYD',\n", - " 'allele': None}],\n", - " 'PMC5810290': [{'variant_id': 'CYP2D6*1, CYP2D6*4, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4 + *41'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*1xN', 'gene': 'CYP2D6', 'allele': '*1xN'}],\n", - " 'PMC4868001': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3 + *2/*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*1/*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3 + *2/*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*1/*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*1/*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3 + *2/*3'}],\n", - " 'PMC4980919': [{'variant_id': 'rs5853517',\n", - " 'gene': 'MED12L, P2RY12',\n", - " 'allele': 'T/del'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*1'},\n", - " {'variant_id': 'rs10935838', 'gene': 'MED12L, P2RY12', 'allele': 'AG'},\n", - " {'variant_id': 'rs2046934', 'gene': 'MED12L, P2RY12', 'allele': 'AG'},\n", - " {'variant_id': 'rs6809699', 'gene': 'MED12L, P2RY12', 'allele': 'AC'}],\n", - " 'PMC2362417': [{'variant_id': 'DPYD deficiency',\n", - " 'gene': 'DPYD',\n", - " 'allele': None}],\n", - " 'PMC5367948': [{'variant_id': 'HLA-A*33:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*33:01'},\n", - " {'variant_id': 'rs116561224', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs114577328', 'gene': None, 'allele': 'C'}],\n", - " 'PMC3596139': [{'variant_id': 'CYP2D6*2, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*2/*10'}],\n", - " 'PMC3752814': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None},\n", - " {'variant_id': 'G6PD deficiency', 'gene': 'G6PD', 'allele': None}],\n", - " 'PMC6816974': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*3', 'gene': 'CYP2C19', 'allele': '*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*3', 'gene': 'CYP2C19', 'allele': '*3'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'}],\n", - " 'PMC3716306': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'}],\n", - " 'PMC3808620': [{'variant_id': 'G6PD A- 202A_376G',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'A- 202A_376G'},\n", - " {'variant_id': 'G6PD A- 202A_376G',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'A- 202A_376G'},\n", - " {'variant_id': 'G6PD A- 202A_376G',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'A- 202A_376G'},\n", - " {'variant_id': 'G6PD B (reference), G6PD Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham',\n", - " 'gene': 'G6PD',\n", - " 'allele': \"Mediterranean, Dallas, Panama' Sassari, Cagliari, Birmingham\"},\n", - " {'variant_id': 'G6PD A- 202A_376G',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'A- 202A_376G'},\n", - " {'variant_id': 'G6PD A- 202A_376G',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'A- 202A_376G'},\n", - " {'variant_id': 'G6PD A- 202A_376G',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'A- 202A_376G'},\n", - " {'variant_id': 'G6PD A- 202A_376G',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'A- 202A_376G'},\n", - " {'variant_id': 'G6PD A- 202A_376G',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'A- 202A_376G'},\n", - " {'variant_id': 'G6PD A- 202A_376G, G6PD B (reference)',\n", - " 'gene': 'G6PD',\n", - " 'allele': 'A- 202A_376G'}],\n", - " 'PMC4879695': [{'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs1801265', 'gene': 'DPYD', 'allele': 'G'},\n", - " {'variant_id': 'rs1801160', 'gene': 'DPYD', 'allele': 'T'},\n", - " {'variant_id': 'rs1801159', 'gene': 'DPYD', 'allele': 'C'},\n", - " {'variant_id': 'rs2297595', 'gene': 'DPYD', 'allele': 'C'},\n", - " {'variant_id': 'rs1801158', 'gene': 'DPYD', 'allele': 'T'},\n", - " {'variant_id': 'rs56038477', 'gene': 'DPYD', 'allele': 'T'},\n", - " {'variant_id': 'rs11280056', 'gene': 'TYMS', 'allele': 'TTAAAGTTA'},\n", - " {'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'T'}],\n", - " 'PMC10657898': [{'variant_id': 'rs28399433',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': 'CC'},\n", - " {'variant_id': 'rs1057910', 'gene': 'CYP2C9', 'allele': 'CC'},\n", - " {'variant_id': 'CYP2A6*4', 'gene': 'CYP2A6', 'allele': '*4'},\n", - " {'variant_id': 'rs2622604', 'gene': 'ABCG2', 'allele': 'TT'},\n", - " {'variant_id': 'rs1057910', 'gene': 'CYP2C9', 'allele': 'AC'}],\n", - " 'PMC4702374': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'T'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*3/*3 + *1/*3'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'CT + TT'}],\n", - " 'PMC7536643': [{'variant_id': 'HLA-B*55:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*55:01'}],\n", - " 'PMC4745369': [{'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*5, CYP2D6*10, CYP2D6*17, CYP2D6*29, CYP2D6*35, CYP2D6*41, CYP2D6*43',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4 + *5/*10 + *5/*41'}],\n", - " 'PMC3894627': [{'variant_id': 'CYP2C9*1',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*1'},\n", - " {'variant_id': 'rs2359612', 'gene': 'VKORC1', 'allele': 'AA'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'TT'},\n", - " {'variant_id': 'rs2884737', 'gene': 'VKORC1', 'allele': 'CC'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'AA'},\n", - " {'variant_id': 'rs8050894', 'gene': 'VKORC1', 'allele': 'GG'},\n", - " {'variant_id': 'CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'rs2359612', 'gene': 'VKORC1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs8050894', 'gene': 'VKORC1', 'allele': 'CG + GG'},\n", - " {'variant_id': 'rs2884737', 'gene': 'VKORC1', 'allele': 'AC + CC'}],\n", - " 'PMC2291274': [{'variant_id': 'CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'}],\n", - " 'PMC3727245': [{'variant_id': 'CYP2C8*1, CYP2C8*3',\n", - " 'gene': 'CYP2C8',\n", - " 'allele': '*1/*3 + *3/*3'},\n", - " {'variant_id': 'CYP2C8*1, CYP2C8*3',\n", - " 'gene': 'CYP2C8',\n", - " 'allele': '*1/*3 + *3/*3'},\n", - " {'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'C'},\n", - " {'variant_id': 'rs1056836', 'gene': 'CYP1B1', 'allele': 'CC + CG'},\n", - " {'variant_id': 'CYP2C8*1, CYP2C8*3',\n", - " 'gene': 'CYP2C8',\n", - " 'allele': '*1/*3 + *3/*3'}],\n", - " 'PMC3377663': [{'variant_id': 'CYP2C19*1, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'T'},\n", - " {'variant_id': 'rs854560', 'gene': 'PON1', 'allele': 'A'},\n", - " {'variant_id': 'rs705379', 'gene': 'PON1', 'allele': 'A'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs3213619', 'gene': 'ABCB1', 'allele': 'G'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'A'}],\n", - " 'PMC3566726': [{'variant_id': 'rs3836790',\n", - " 'gene': 'SLC6A3',\n", - " 'allele': 'CACATACCATGCAACATACACACTCAGACA/CACATACCATGCAACATACACACTCAGACA'},\n", - " {'variant_id': 'rs6347', 'gene': 'SLC6A3', 'allele': 'TT'},\n", - " {'variant_id': 'rs1076560', 'gene': 'DRD2', 'allele': 'A'},\n", - " {'variant_id': 'rs2283265', 'gene': 'DRD2', 'allele': 'A'}],\n", - " 'PMC2014334': [{'variant_id': 'CYP2C9*1',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*1'},\n", - " {'variant_id': 'CYP2C9*1', 'gene': 'CYP2C9', 'allele': '*1/*1'},\n", - " {'variant_id': 'CYP2C9*1', 'gene': 'CYP2C9', 'allele': '*1/*1'}],\n", - " 'PMC5820983': [{'variant_id': 'rs3758581', 'gene': 'CYP2C19', 'allele': 'G'}],\n", - " 'PMC3703235': [{'variant_id': 'TPMT*1, TPMT*3A',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*3A'},\n", - " {'variant_id': 'TPMT*1, TPMT*3A', 'gene': 'TPMT', 'allele': '*1/*3A'},\n", - " {'variant_id': 'TPMT*1, TPMT*33', 'gene': 'TPMT', 'allele': '*1/*33'},\n", - " {'variant_id': 'TPMT*1, TPMT*34', 'gene': 'TPMT', 'allele': '*1/*34'},\n", - " {'variant_id': 'TPMT*1, TPMT*21', 'gene': 'TPMT', 'allele': '*1/*21'},\n", - " {'variant_id': 'TPMT*1, TPMT*2, TPMT*3A, TPMT*3C',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*2 + *1/*3A + *1/*3C'},\n", - " {'variant_id': 'TPMT*1, TPMT*9, TPMT*21, TPMT*32, TPMT*33, TPMT*34',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*9 + *1/*21 + *1/*32 + *1/*33 + *1/*34'},\n", - " {'variant_id': 'TPMT*1, TPMT*32', 'gene': 'TPMT', 'allele': '*1/*32'}],\n", - " 'PMC1855340': [{'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'rs8050894', 'gene': 'VKORC1', 'allele': 'G'}],\n", - " 'PMC3718044': [{'variant_id': 'CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'},\n", - " {'variant_id': 'rs8050894', 'gene': 'VKORC1', 'allele': 'G'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'}],\n", - " 'PMC7098961': [{'variant_id': 'rs73032311', 'gene': 'CYP2A7', 'allele': 'C'},\n", - " {'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'A'},\n", - " {'variant_id': 'rs1142345', 'gene': 'TPMT', 'allele': 'C'},\n", - " {'variant_id': 'rs116855232', 'gene': 'NUDT15', 'allele': 'T'}],\n", - " 'PMC3763712': [{'variant_id': 'CYP2B6*18', 'gene': 'CYP2B6', 'allele': '*18'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*6', 'gene': 'CYP2B6', 'allele': '*6'}],\n", - " 'PMC2935998': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2xN',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*2xN'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2xN',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*2xN'}],\n", - " 'PMC11728264': [{'variant_id': 'rs4570625', 'gene': 'TPH2', 'allele': 'TT'},\n", - " {'variant_id': 'rs7305115', 'gene': 'TPH2', 'allele': 'GG'},\n", - " {'variant_id': 'rs1386493', 'gene': 'TPH2', 'allele': 'GG'}],\n", - " 'PMC3193709': [{'variant_id': 'CYP2C9*1, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*3'}],\n", - " 'PMC1222557': [{'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'AT'},\n", - " {'variant_id': 'rs568132506', 'gene': 'DPYD', 'allele': 'AA'},\n", - " {'variant_id': 'rs72549305', 'gene': 'DPYD', 'allele': 'CC'},\n", - " {'variant_id': 'rs72549307', 'gene': 'DPYD', 'allele': 'CC'},\n", - " {'variant_id': 'rs72549308', 'gene': 'DPYD', 'allele': 'GT'},\n", - " {'variant_id': 'rs72547601', 'gene': 'DPYD', 'allele': 'CC'},\n", - " {'variant_id': 'rs72549304', 'gene': 'DPYD', 'allele': 'AA'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs55886062', 'gene': 'DPYD', 'allele': 'AC'}],\n", - " 'PMC6429833': [{'variant_id': 'UGT1A1 deficiency',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': None},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC1755602': [{'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTCGCCTGCCTCCGTCCCG)3'},\n", - " {'variant_id': 'rs1051266', 'gene': 'SLC19A1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs2372536', 'gene': 'ATIC', 'allele': 'G'}],\n", - " 'PMC3605700': [{'variant_id': 'rs2125739', 'gene': 'ABCC10', 'allele': 'CC'}],\n", - " 'PMC2564574': [{'variant_id': 'rs2884737', 'gene': 'VKORC1', 'allele': 'C'},\n", - " {'variant_id': 'rs8050894', 'gene': 'VKORC1', 'allele': 'G'},\n", - " {'variant_id': 'rs2359612', 'gene': 'VKORC1', 'allele': 'G'},\n", - " {'variant_id': 'rs17708472', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs7294', 'gene': 'PRSS53, VKORC1', 'allele': 'T'},\n", - " {'variant_id': 'CYP2C9*2', 'gene': 'CYP2C9', 'allele': '*2'},\n", - " {'variant_id': 'CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*3'}],\n", - " 'PMC3550197': [{'variant_id': 'CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'}],\n", - " 'PMC3820275': [{'variant_id': 'CYP2A6*1, CYP2A6*2, CYP2A6*9, CYP2A6*17, CYP2A6*20',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': '*1/*1'}],\n", - " 'PMC3862586': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *2/*2'},\n", - " {'variant_id': 'rs2134688', 'gene': 'ARNT', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs4823613', 'gene': 'PPARA', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs4253728', 'gene': 'PPARA', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs35599367', 'gene': 'CYP3A4', 'allele': 'AG'}],\n", - " 'PMC4752331': [{'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'C'},\n", - " {'variant_id': 'rs2046934', 'gene': 'P2RY12', 'allele': 'A'},\n", - " {'variant_id': 'rs1330344', 'gene': 'PTGS1', 'allele': 'T'}],\n", - " 'PMC2014382': [{'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3 + *4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3/*3 + *3/*4 + *4/*4'}],\n", - " 'PMC2887732': [{'variant_id': 'SLC6A4 HTTLPR short form (S allele), SLC6A4 L allele-rs25531C, SLC6A4 L allele-rs25531T',\n", - " 'gene': 'SLC6A4',\n", - " 'allele': 'HTTLPR short form (S allele)/L allele-rs25531C'},\n", - " {'variant_id': 'rs25531', 'gene': 'SLC6A4', 'allele': 'C'}],\n", - " 'PMC5127810': [{'variant_id': 'rs7438135', 'gene': 'UGT2B7', 'allele': 'G'},\n", - " {'variant_id': 'rs11572076', 'gene': 'CYP2C8', 'allele': 'CC'}],\n", - " 'PMC3482956': [{'variant_id': 'rs2804402', 'gene': 'ABCC2', 'allele': 'G'},\n", - " {'variant_id': 'rs3740066', 'gene': 'ABCC2', 'allele': 'T'},\n", - " {'variant_id': 'rs3740066', 'gene': 'ABCC2', 'allele': 'T'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs8187710', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs1885301', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs8187710', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs8187710', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs717620', 'gene': 'ABCC2', 'allele': 'T'},\n", - " {'variant_id': 'rs17216177', 'gene': 'ABCC2', 'allele': 'C'},\n", - " {'variant_id': 'rs1885301', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs17216177', 'gene': 'ABCC2', 'allele': 'C'},\n", - " {'variant_id': 'rs2804402', 'gene': 'ABCC2', 'allele': 'G'},\n", - " {'variant_id': 'rs1885301', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs717620', 'gene': 'ABCC2', 'allele': 'T'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'A'},\n", - " {'variant_id': 'rs717620', 'gene': 'ABCC2', 'allele': 'T'},\n", - " {'variant_id': 'rs17216177', 'gene': 'ABCC2', 'allele': 'C'}],\n", - " 'PMC3057982': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4'}],\n", - " 'PMC4180737': [{'variant_id': 'HLA-DQB1*06:02',\n", - " 'gene': 'HLA-DQB1',\n", - " 'allele': '*06:02'}],\n", - " 'PMC8444616': [{'variant_id': 'rs1801265',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'AG + GG'}],\n", - " 'PMC4833149': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*1/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*1/*3'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3'}],\n", - " 'PMC3384479': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'CYP2C9*2, CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'TT'},\n", - " {'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'CC'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'TT'},\n", - " {'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2 + *3'},\n", - " {'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'CC'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'}],\n", - " 'PMC4937762': [{'variant_id': 'HLA-B*57:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*57:01'}],\n", - " 'PMC9024670': [{'variant_id': 'rs3764435', 'gene': 'ALDH1A1', 'allele': 'AA'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'GG'},\n", - " {'variant_id': 'rs3740066', 'gene': 'ABCC2', 'allele': 'TT'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs3740066', 'gene': 'ABCC2', 'allele': 'TT'}],\n", - " 'PMC6563124': [{'variant_id': 'rs1225367412',\n", - " 'gene': 'CACNA1S',\n", - " 'allele': 'del'},\n", - " {'variant_id': 'rs193922826', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs1204964501', 'gene': 'CACNA1S', 'allele': 'G'},\n", - " {'variant_id': 'rs141678782', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs757284447', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs111364296', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs529038948', 'gene': 'CACNA1S', 'allele': 'A'},\n", - " {'variant_id': 'rs768445692', 'gene': 'CACNA1S', 'allele': 'C'},\n", - " {'variant_id': 'rs377474103', 'gene': 'CACNA1S', 'allele': 'C'}],\n", - " 'PMC5876888': [{'variant_id': 'HLA-B*13:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*13:01'}],\n", - " 'PMC7156285': [{'variant_id': 'HLA-A*31:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*31:01'},\n", - " {'variant_id': 'HLA-A*31:01', 'gene': 'HLA-A', 'allele': '*31:01'},\n", - " {'variant_id': 'rs192543598', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs187926838', 'gene': 'ALK', 'allele': 'G'}],\n", - " 'PMC2957368': [{'variant_id': 'rs1799752',\n", - " 'gene': 'ACE',\n", - " 'allele': 'ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del'},\n", - " {'variant_id': 'rs4291', 'gene': 'ACE', 'allele': 'AA + AT'}],\n", - " 'PMC10399933': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2/*2 + *2/*3 + *3/*3'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GT + TT'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CC'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CC + CT'}],\n", - " 'PMC10374328': [{'variant_id': 'HLA-B*15:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:02'}],\n", - " 'PMC10366597': [{'variant_id': 'CYP2D6*4, CYP2D6*5, CYP2D6*68',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4 + *5 + *68'},\n", - " {'variant_id': 'CYP2D6*4, CYP2D6*68',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4 + *68'}],\n", - " 'PMC8375217': [{'variant_id': 'CYP2D6*41', 'gene': 'CYP2D6', 'allele': '*41'},\n", - " {'variant_id': 'CYP2D6*41', 'gene': 'CYP2D6', 'allele': '*41'},\n", - " {'variant_id': 'CYP2D6*41', 'gene': 'CYP2D6', 'allele': '*41'}],\n", - " 'PMC10398775': [{'variant_id': 'HLA-A*31:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*31:01'}],\n", - " 'PMC10381559': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC10404721': [{'variant_id': 'HLA-B*13:01, HLA-B*13:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*13:01 + *13:02'}],\n", - " 'PMC6713716': [{'variant_id': 'CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4'}],\n", - " 'PMC10841235': [{'variant_id': 'HLA-A*03:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*03:01'},\n", - " {'variant_id': 'HLA-A*32:01', 'gene': 'HLA-A', 'allele': '*32:01'},\n", - " {'variant_id': 'HLA-B*53:01', 'gene': 'HLA-B', 'allele': '*53:01'}],\n", - " 'PMC10443690': [{'variant_id': 'CYP2C19*1',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*1'}],\n", - " 'PMC8100096': [{'variant_id': 'HLA-DRB1*10:01',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*10:01'},\n", - " {'variant_id': 'rs71542416', 'gene': None, 'allele': 'T'}],\n", - " 'PMC10582682': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*8, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3 + *8'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*1 + *1/*17 + *17/*17'},\n", - " {'variant_id': 'CYP2C19*2, CYP2C19*3, CYP2C19*8',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3 + *8'}],\n", - " 'PMC10789960': [{'variant_id': 'CYP2D6*1, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10 + *1/*10'}],\n", - " 'PMC10448185': [{'variant_id': 'CYP2D6*5',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*5/*5'}],\n", - " 'PMC10522553': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*4'}],\n", - " 'PMC10494815': [{'variant_id': 'CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*3'}],\n", - " 'PMC10486269': [{'variant_id': 'CYP2C19 intermediate metabolizer',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 intermediate metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC10501134': [{'variant_id': 'NAT2 slow acetylator',\n", - " 'gene': 'NAT2',\n", - " 'allele': None},\n", - " {'variant_id': 'NAT2*4, NAT2*6, NAT2*7, NAT2*16',\n", - " 'gene': 'NAT2',\n", - " 'allele': '*6/*6 + *6/*7 + *7/*7'}],\n", - " 'PMC10885131': [{'variant_id': 'HLA-A*32:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*32:01'}],\n", - " 'PMC10546186': [{'variant_id': 'HLA-A*02:07',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*02:07'},\n", - " {'variant_id': 'HLA-A*01:01', 'gene': 'HLA-A', 'allele': '*01:01'},\n", - " {'variant_id': 'HLA-C*06:02', 'gene': 'HLA-C', 'allele': '*06:02'},\n", - " {'variant_id': 'HLA-DRB1*15:01', 'gene': 'HLA-DRB1', 'allele': '*15:01'},\n", - " {'variant_id': 'HLA-DQB1*03:02', 'gene': 'HLA-DQB1', 'allele': '*03:02'}],\n", - " 'PMC10550831': [{'variant_id': 'CYP2C19 poor metabolizer',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None}],\n", - " 'PMC10926675': [{'variant_id': 'rs1127354', 'gene': 'ITPA', 'allele': 'AC'},\n", - " {'variant_id': 'rs1127354', 'gene': 'ITPA', 'allele': 'CC'}],\n", - " 'PMC10618803': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3'}],\n", - " 'PMC10732300': [{'variant_id': 'CYP2B6 poor metabolizer',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': None}],\n", - " 'PMC3638364': [{'variant_id': 'rs1152003', 'gene': None, 'allele': 'CC'}],\n", - " 'PMC10633914': [{'variant_id': 'rs143004875',\n", - " 'gene': 'DPYS',\n", - " 'allele': '(T)7/(T)8'},\n", - " {'variant_id': 'rs2016520', 'gene': 'PPARD', 'allele': 'T'}],\n", - " 'PMC10487921': [{'variant_id': 'CYP2D6*1, CYP2D6*3, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*3 + *4'}],\n", - " 'PMC3235084': [{'variant_id': 'rs2278293', 'gene': 'IMPDH1', 'allele': 'T'},\n", - " {'variant_id': 'rs2278294', 'gene': 'IMPDH1', 'allele': 'T'},\n", - " {'variant_id': 'rs2278294', 'gene': 'IMPDH1', 'allele': 'T'},\n", - " {'variant_id': 'rs4974081', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs11706052', 'gene': 'IMPDH2', 'allele': 'G'},\n", - " {'variant_id': 'rs2278293', 'gene': 'IMPDH1', 'allele': 'T'}],\n", - " 'PMC2883760': [{'variant_id': 'rs11692021', 'gene': None, 'allele': 'CC'},\n", - " {'variant_id': 'rs1042597', 'gene': 'UGT1A8', 'allele': 'CC'},\n", - " {'variant_id': 'rs1042597', 'gene': 'UGT1A8', 'allele': 'CC'},\n", - " {'variant_id': 'rs17863762', 'gene': 'UGT1A8', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs6714486', 'gene': 'UGT1A9', 'allele': 'AA + AT'},\n", - " {'variant_id': 'rs1042597', 'gene': 'UGT1A8', 'allele': 'CC'}],\n", - " 'PMC10947784': [{'variant_id': 'DPYD deficiency',\n", - " 'gene': 'DPYD',\n", - " 'allele': None}],\n", - " 'PMC10690766': [{'variant_id': 'CYP3A5*1, CYP3A5*3, CYP3A5*6, CYP3A5*7',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*3/*3 + *3/*6 + *3/*7'},\n", - " {'variant_id': 'rs3832526',\n", - " 'gene': 'ASNS',\n", - " 'allele': '(GCGGGGCGCAGGGC)3/(GCGGGGCGCAGGGC)3'},\n", - " {'variant_id': 'rs1049674', 'gene': 'ASNS', 'allele': 'AT'},\n", - " {'variant_id': 'rs9282564', 'gene': 'ABCB1', 'allele': 'CT'}],\n", - " 'PMC10932604': [{'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'G'}],\n", - " 'PMC2853447': [{'variant_id': 'rs17655652', 'gene': 'NPC1L1', 'allele': 'CC'},\n", - " {'variant_id': 'rs17655652', 'gene': 'NPC1L1', 'allele': 'CC'}],\n", - " 'PMC10739331': [{'variant_id': 'rs11280056',\n", - " 'gene': 'TYMS',\n", - " 'allele': 'TTA/TTAAAGTTA'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'GT'}],\n", - " 'PMC11889249': [{'variant_id': 'CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'}],\n", - " 'PMC10787143': [{'variant_id': 'CYP2D6 intermediate metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2B6 poor metabolizer', 'gene': 'CYP2B6', 'allele': None},\n", - " {'variant_id': 'CYP3A4 poor metabolizer', 'gene': 'CYP3A4', 'allele': None},\n", - " {'variant_id': 'CYP2D6 ultrarapid metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC10740827': [{'variant_id': 'CYP2C19 poor metabolizer',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None}],\n", - " 'PMC10741656': [{'variant_id': 'HLA-A*02:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*02:01'},\n", - " {'variant_id': 'HLA-A*34:01', 'gene': 'HLA-A', 'allele': '*34:01'},\n", - " {'variant_id': 'HLA-DRB1*16:02', 'gene': 'HLA-DRB1', 'allele': '*16:02'}],\n", - " 'PMC11194867': [{'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'GG'}],\n", - " 'PMC10800424': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'}],\n", - " 'PMC10814806': [{'variant_id': 'rs11280056',\n", - " 'gene': 'TYMS',\n", - " 'allele': 'del/del'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'GG'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs113488022', 'gene': 'BRAF', 'allele': 'T'},\n", - " {'variant_id': 'rs1801265', 'gene': 'DPYD', 'allele': 'AG + GG'}],\n", - " 'PMC1735714': [{'variant_id': 'rs121918594', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs118192172', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs63749869', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs118192124', 'gene': 'RYR1', 'allele': 'T'}],\n", - " 'PMC1887589': [{'variant_id': 'rs446112', 'gene': None, 'allele': 'AA'},\n", - " {'variant_id': 'rs2784917', 'gene': 'SLIT1', 'allele': 'AA'},\n", - " {'variant_id': 'rs6539870', 'gene': None, 'allele': 'GG'},\n", - " {'variant_id': 'rs2784917', 'gene': None, 'allele': 'AA'},\n", - " {'variant_id': 'rs6539870', 'gene': None, 'allele': 'GG'},\n", - " {'variant_id': 'rs446112', 'gene': None, 'allele': 'AA'}],\n", - " 'PMC8490297': [{'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs45445694',\n", - " 'gene': 'TYMS',\n", - " 'allele': '(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2'},\n", - " {'variant_id': 'rs25487', 'gene': 'XRCC1', 'allele': 'T'},\n", - " {'variant_id': 'rs25487', 'gene': 'XRCC1', 'allele': 'T'},\n", - " {'variant_id': 'rs7439366', 'gene': 'UGT2B7', 'allele': 'T'},\n", - " {'variant_id': 'rs3212986', 'gene': 'ERCC1', 'allele': 'C'},\n", - " {'variant_id': 'rs11615', 'gene': 'ERCC1', 'allele': 'A'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'A'},\n", - " {'variant_id': 'rs7439366', 'gene': 'UGT2B7', 'allele': 'T'},\n", - " {'variant_id': 'rs3212986', 'gene': 'ERCC1', 'allele': 'C'},\n", - " {'variant_id': 'rs7439366', 'gene': 'UGT2B7', 'allele': 'T'},\n", - " {'variant_id': 'rs3212986', 'gene': 'ERCC1', 'allele': 'C'},\n", - " {'variant_id': 'rs25487', 'gene': 'XRCC1', 'allele': 'T'},\n", - " {'variant_id': 'rs25487', 'gene': 'XRCC1', 'allele': 'T'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'A'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'A'},\n", - " {'variant_id': 'rs11615', 'gene': 'ERCC1', 'allele': 'A'},\n", - " {'variant_id': 'rs11615', 'gene': 'ERCC1', 'allele': 'A'},\n", - " {'variant_id': 'rs7439366', 'gene': 'UGT2B7', 'allele': 'T'},\n", - " {'variant_id': 'rs3212986', 'gene': 'ERCC1', 'allele': 'C'},\n", - " {'variant_id': 'rs11615', 'gene': 'ERCC1', 'allele': 'A'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'A'}],\n", - " 'PMC4283622': [{'variant_id': 'rs1801265',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'AT'},\n", - " {'variant_id': 'rs777425216', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs55886062', 'gene': 'DPYD', 'allele': 'AC'},\n", - " {'variant_id': 'rs1801159', 'gene': 'DPYD', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs1801160', 'gene': 'DPYD', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs45589337', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs2297595', 'gene': 'DPYD', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs1801158', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs56038477', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs12022243', 'gene': 'DPYD', 'allele': 'T'},\n", - " {'variant_id': 'rs7548189', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs2741171', 'gene': 'ENOSF1', 'allele': 'T'},\n", - " {'variant_id': 'rs2612091', 'gene': 'ENOSF1', 'allele': 'C'},\n", - " {'variant_id': 'rs12022243', 'gene': 'DPYD', 'allele': 'T'},\n", - " {'variant_id': 'rs2741171', 'gene': 'ENOSF1', 'allele': 'T'},\n", - " {'variant_id': 'rs2612091', 'gene': 'ENOSF1', 'allele': 'C'},\n", - " {'variant_id': 'rs7548189', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs7548189', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs2741171', 'gene': 'ENOSF1', 'allele': 'T'},\n", - " {'variant_id': 'rs2612091', 'gene': 'ENOSF1', 'allele': 'C'},\n", - " {'variant_id': 'rs12022243', 'gene': 'DPYD', 'allele': 'T'},\n", - " {'variant_id': 'rs76387818', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs12132152', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs76387818', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs12132152', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs76387818', 'gene': 'DPYD', 'allele': 'A'},\n", - " {'variant_id': 'rs12132152', 'gene': 'DPYD', 'allele': 'A'}],\n", - " 'PMC3165308': [{'variant_id': 'rs4149032', 'gene': 'SLCO1B1', 'allele': 'T'}],\n", - " 'PMC9531708': [{'variant_id': 'rs2228478', 'gene': 'MC1R', 'allele': 'G'},\n", - " {'variant_id': 'rs2228479', 'gene': 'MC1R', 'allele': 'A'}],\n", - " 'PMC2966859': [{'variant_id': 'rs9394992', 'gene': 'SLC29A1', 'allele': 'CC'},\n", - " {'variant_id': 'rs8187758', 'gene': 'SLC28A1', 'allele': 'CC'},\n", - " {'variant_id': 'rs1060896', 'gene': 'SLC28A2', 'allele': 'AA'},\n", - " {'variant_id': 'rs7853758', 'gene': 'SLC28A3', 'allele': 'GG'},\n", - " {'variant_id': 'rs7867504', 'gene': 'SLC28A3', 'allele': 'CC'},\n", - " {'variant_id': 'rs760370', 'gene': 'SLC29A1', 'allele': 'GG'},\n", - " {'variant_id': 'rs324148', 'gene': 'SLC29A1', 'allele': 'CC'},\n", - " {'variant_id': 'rs12648166', 'gene': 'DCK', 'allele': 'AA'},\n", - " {'variant_id': 'rs9937', 'gene': 'RRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1042858', 'gene': 'RRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs183484', 'gene': 'RRM1', 'allele': 'AC'},\n", - " {'variant_id': 'rs2242048', 'gene': 'SLC28A1', 'allele': 'GG'},\n", - " {'variant_id': 'rs4742', 'gene': 'DCTD', 'allele': 'GG'},\n", - " {'variant_id': 'rs1048977', 'gene': 'CDA', 'allele': 'CC'},\n", - " {'variant_id': 'rs2072671', 'gene': 'CDA', 'allele': 'AA'},\n", - " {'variant_id': 'rs4694362', 'gene': 'DCK', 'allele': 'TT'},\n", - " {'variant_id': 'rs9394992', 'gene': 'SLC29A1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs9937', 'gene': 'RRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs2072671', 'gene': 'CDA', 'allele': 'AA'},\n", - " {'variant_id': 'rs4694362', 'gene': 'DCK', 'allele': 'TT'}],\n", - " 'PMC9951409': [{'variant_id': 'rs4986893', 'gene': 'CYP2C19', 'allele': 'A'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'A'},\n", - " {'variant_id': 'rs1463411', 'gene': 'MIR6076', 'allele': 'GG + GT'},\n", - " {'variant_id': 'rs1463411', 'gene': 'MIR6076', 'allele': 'G'}],\n", - " 'PMC5824214': [{'variant_id': 'rs4788863', 'gene': 'SLC16A5', 'allele': 'T'},\n", - " {'variant_id': 'rs1142345', 'gene': 'TPMT', 'allele': 'C'},\n", - " {'variant_id': 'rs10981694', 'gene': 'SLC31A1', 'allele': 'G'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'G'},\n", - " {'variant_id': 'rs1051640', 'gene': 'ABCC3', 'allele': 'G'},\n", - " {'variant_id': 'rs9332377', 'gene': 'COMT', 'allele': 'C'},\n", - " {'variant_id': 'rs4646316', 'gene': 'COMT', 'allele': 'T'},\n", - " {'variant_id': 'rs12201199', 'gene': 'TPMT', 'allele': 'T'},\n", - " {'variant_id': 'rs1800460', 'gene': 'TPMT', 'allele': 'C'},\n", - " {'variant_id': 'rs2228001', 'gene': 'XPC', 'allele': 'G'},\n", - " {'variant_id': 'rs316019', 'gene': 'SLC22A2', 'allele': 'C'}],\n", - " 'PMC5963629': [{'variant_id': 'rs10817465', 'gene': 'SLC31A1', 'allele': 'C'},\n", - " {'variant_id': 'rs10513202', 'gene': 'SLC31A1', 'allele': 'G'},\n", - " {'variant_id': 'rs10759637', 'gene': 'SLC31A1', 'allele': 'AC'},\n", - " {'variant_id': 'rs2233914', 'gene': 'SLC31A1', 'allele': 'AA'},\n", - " {'variant_id': 'rs10817464', 'gene': 'SLC31A1', 'allele': 'T'},\n", - " {'variant_id': 'rs2233914', 'gene': 'SLC31A1', 'allele': 'AA'},\n", - " {'variant_id': 'rs10759637', 'gene': 'SLC31A1', 'allele': 'AC'},\n", - " {'variant_id': 'rs4979223', 'gene': 'SLC31A1', 'allele': 'AC'},\n", - " {'variant_id': 'rs4978536', 'gene': 'SLC31A1', 'allele': 'A'},\n", - " {'variant_id': 'rs4978536', 'gene': 'SLC31A1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs10817464', 'gene': 'SLC31A1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs4979223', 'gene': 'SLC31A1', 'allele': 'AC'}],\n", - " 'PMC4966576': [{'variant_id': 'CYP2C19 poor metabolizers',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None}],\n", - " 'PMC4000704': [{'variant_id': 'rs11868035',\n", - " 'gene': 'SREBF1',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC6969029': [{'variant_id': 'rs12305038', 'gene': 'PDE3A', 'allele': 'A'},\n", - " {'variant_id': 'rs11882256', 'gene': 'MUC16', 'allele': 'T'},\n", - " {'variant_id': 'rs12305038', 'gene': 'PDE3A', 'allele': 'A'},\n", - " {'variant_id': 'rs36024412', 'gene': 'CRYBG2', 'allele': 'T'},\n", - " {'variant_id': 'rs168107', 'gene': 'CLCC1', 'allele': 'T'},\n", - " {'variant_id': 'rs41269255', 'gene': 'POM121L2', 'allele': 'T'},\n", - " {'variant_id': 'rs9393888', 'gene': 'ZNF165', 'allele': 'C'},\n", - " {'variant_id': 'rs10405238', 'gene': 'ZNF568', 'allele': 'G'}],\n", - " 'PMC2121164': [{'variant_id': 'rs1042713', 'gene': 'ADRB2', 'allele': 'AA'}],\n", - " 'PMC11790433': [{'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'AA'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'TT'}],\n", - " 'PMC11293078': [{'variant_id': 'rs1799930', 'gene': 'NAT2', 'allele': 'G'},\n", - " {'variant_id': 'rs1801280', 'gene': 'NAT2', 'allele': 'T'}],\n", - " 'PMC5395804': [{'variant_id': 'rs12979860',\n", - " 'gene': 'IFNL3, IFNL4',\n", - " 'allele': 'CC'}],\n", - " 'PMC3232196': [{'variant_id': 'NAT2*1, NAT2*4, NAT2*6, NAT2*7, NAT2*16',\n", - " 'gene': 'NAT2',\n", - " 'allele': '*16/*16 + *16/*6 + *16/*7 + *6/*6 + *6/*7'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'TT'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'}],\n", - " 'PMC10506906': [{'variant_id': 'SLCO1B1*5',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*5'}],\n", - " 'PMC1894729': [{'variant_id': 'NAT2*5, NAT2*6, NAT2*7, NAT2*16',\n", - " 'gene': 'NAT2',\n", - " 'allele': '*16 + *5 + *6 + *7'}],\n", - " 'PMC10880264': [{'variant_id': 'CYP2C19 intermediate metabolizer',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor metabolizer', 'gene': 'CYP2D6', 'allele': None},\n", - " {'variant_id': 'CYP2C19 intermediate metabolizer',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None},\n", - " {'variant_id': 'rs6311', 'gene': 'HTR2A', 'allele': 'CT + TT'}],\n", - " 'PMC10984958': [{'variant_id': 'NAT2*4, NAT2*6, NAT2*7',\n", - " 'gene': 'NAT2',\n", - " 'allele': '*6/*6 + *6/*7 + *7/*7'},\n", - " {'variant_id': 'rs1061472', 'gene': 'ATP7B', 'allele': 'CC'}],\n", - " 'PMC10910298': [{'variant_id': 'CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'}],\n", - " 'PMC12009671': [{'variant_id': 'HLA-DRB1*04:03',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*04:03'},\n", - " {'variant_id': 'CYP2C9*2, CYP2C9*3', 'gene': 'CYP2C9', 'allele': '*2 + *3'},\n", - " {'variant_id': 'HLA-B*35:03', 'gene': 'HLA-B', 'allele': '*35:03'}],\n", - " 'PMC10541540': [{'variant_id': 'NAT2*4, NAT2*6, NAT2*7, NAT2*16',\n", - " 'gene': 'NAT2',\n", - " 'allele': '*16/*16 + *16/*6 + *16/*7 + *6/*6 + *6/*7 + *7/*7'},\n", - " {'variant_id': 'rs2031920', 'gene': 'CYP2E1', 'allele': 'C'},\n", - " {'variant_id': 'rs1799931', 'gene': 'NAT2', 'allele': 'A'},\n", - " {'variant_id': 'rs1799930', 'gene': 'NAT2', 'allele': 'A'},\n", - " {'variant_id': 'rs1799929', 'gene': 'NAT2', 'allele': 'T'}],\n", - " 'PMC8426517': [{'variant_id': 'rs1051730', 'gene': 'CHRNA3', 'allele': 'A'},\n", - " {'variant_id': 'rs1051730', 'gene': 'CHRNA3', 'allele': 'AA + AG'}],\n", - " 'PMC6889971': [{'variant_id': 'CYP2C19 poor metabolizer and intermediate metabolizer genotypes',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2C19 rapid and ultrarapid metabolizer genotypes',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None}],\n", - " 'PMC7586356': [{'variant_id': 'CYP2D6 poor metabolizer genotype',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 ultrarapid metabolizer genotype',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC3309132': [{'variant_id': 'CYP2D6 poor metabolizers and intermediate metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor metabolizers and intermediate metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC5675690': [{'variant_id': 'rs1128503',\n", - " 'gene': 'ABCB1',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs683369', 'gene': 'SLC22A1', 'allele': 'CG + GG'}],\n", - " 'PMC6465603': [{'variant_id': 'rs1142345', 'gene': 'TPMT', 'allele': 'C'},\n", - " {'variant_id': 'rs116855232', 'gene': 'NUDT15', 'allele': 'CT + TT'}],\n", - " 'PMC3858967': [{'variant_id': 'rs871514', 'gene': 'UGT1A4', 'allele': 'C'},\n", - " {'variant_id': 'rs13401281', 'gene': 'UGT1A4', 'allele': 'G'},\n", - " {'variant_id': 'rs4124874', 'gene': 'UGT1A1', 'allele': 'T'},\n", - " {'variant_id': 'rs10929302', 'gene': 'UGT1A1', 'allele': 'A'},\n", - " {'variant_id': 'rs1042597', 'gene': 'UGT1A8', 'allele': 'G'},\n", - " {'variant_id': 'rs1042605', 'gene': 'UGT1A8', 'allele': 'G'},\n", - " {'variant_id': 'rs12468274', 'gene': 'UGT1A4', 'allele': 'C'},\n", - " {'variant_id': 'rs1551285', 'gene': 'UGT1A8', 'allele': 'A'},\n", - " {'variant_id': 'rs2011404', 'gene': 'UGT1A4', 'allele': 'C'},\n", - " {'variant_id': 'rs6755571', 'gene': 'UGT1A4', 'allele': 'AC'},\n", - " {'variant_id': 'rs6431558', 'gene': 'UGT1A8', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs1801030', 'gene': 'SULT1A1, SULT1A2', 'allele': 'C'},\n", - " {'variant_id': 'rs3755319', 'gene': 'UGT1A1', 'allele': 'C'},\n", - " {'variant_id': 'rs62298861', 'gene': 'UGT2B7', 'allele': 'G'},\n", - " {'variant_id': 'rs3760091', 'gene': 'SULT1A1', 'allele': 'G'},\n", - " {'variant_id': 'rs7668258', 'gene': 'UGT2B7', 'allele': 'C'},\n", - " {'variant_id': 'rs750155', 'gene': 'SULT1A1', 'allele': 'T'},\n", - " {'variant_id': 'rs1042028', 'gene': 'SULT1A1', 'allele': 'T'}],\n", - " 'PMC3260990': [{'variant_id': 'rs7164594',\n", - " 'gene': 'HYKK',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs8109525', 'gene': 'CYP2B6', 'allele': 'GG'},\n", - " {'variant_id': 'rs3758987', 'gene': 'HTR3B', 'allele': 'TT'},\n", - " {'variant_id': 'rs11606194', 'gene': 'HTR3B', 'allele': 'CT + TT'}],\n", - " 'PMC10779905': [{'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'GG'}],\n", - " 'PMC3116071': [{'variant_id': 'rs2231164',\n", - " 'gene': 'ABCG2',\n", - " 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs2847153', 'gene': 'TYMS', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs2237717', 'gene': 'MET', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1760217', 'gene': 'DPYD', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs17091162', 'gene': 'SERPINA3', 'allele': 'AC + CC'}],\n", - " 'PMC4480333': [{'variant_id': 'CYP2D6 poor metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2C19 poor metabolizers',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2'}],\n", - " 'PMC5533343': [{'variant_id': 'rs201052613', 'gene': None, 'allele': '(T)6'},\n", - " {'variant_id': 'rs138741635', 'gene': 'FHIT', 'allele': 'A'},\n", - " {'variant_id': 'rs192427471', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs181937009', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs12290663', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs147204125', 'gene': 'HEATR4', 'allele': 'G'},\n", - " {'variant_id': 'rs117714106', 'gene': None, 'allele': 'T'}],\n", - " 'PMC4050976': [{'variant_id': 'rs2245360', 'gene': 'PAH', 'allele': 'AA'}],\n", - " 'PMC5853681': [{'variant_id': 'CYP2B6 poor metabolizer and intermediate metabolizer genotypes',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': None}],\n", - " 'PMC1856436': [{'variant_id': 'TPMT intermediate metabolizers',\n", - " 'gene': 'TPMT',\n", - " 'allele': None},\n", - " {'variant_id': 'TPMT intermediate metabolizers',\n", - " 'gene': 'TPMT',\n", - " 'allele': None},\n", - " {'variant_id': 'rs1127354', 'gene': 'ITPA', 'allele': 'C'}],\n", - " 'PMC4959996': [{'variant_id': 'rs4793665', 'gene': 'ABCC3', 'allele': 'CC'},\n", - " {'variant_id': 'rs4148412', 'gene': 'ABCC3', 'allele': 'TT'},\n", - " {'variant_id': 'rs4148412', 'gene': 'ABCC3', 'allele': 'T'},\n", - " {'variant_id': 'rs739923', 'gene': 'ABCC3', 'allele': 'G'},\n", - " {'variant_id': 'rs1978153', 'gene': 'ABCC3', 'allele': 'C'},\n", - " {'variant_id': 'rs733392', 'gene': 'ABCC3', 'allele': 'G'},\n", - " {'variant_id': 'rs886493', 'gene': 'ABCC3', 'allele': 'G'},\n", - " {'variant_id': 'rs7216383', 'gene': 'ABCC3', 'allele': 'T'}],\n", - " 'PMC5396189': [{'variant_id': 'rs25487',\n", - " 'gene': 'XRCC1',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1042927', 'gene': 'RRM1', 'allele': 'AC + CC'},\n", - " {'variant_id': 'rs13181', 'gene': 'ERCC2', 'allele': 'GG + GT'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs2236225', 'gene': 'MTHFD1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs3212986', 'gene': 'ERCC1', 'allele': 'AA + AC'}],\n", - " 'PMC10089949': [{'variant_id': 'CYP3A5 intermediate metabolizer and normal metabolizer',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': None}],\n", - " 'PMC6303239': [{'variant_id': 'rs887829',\n", - " 'gene': 'UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9',\n", - " 'allele': 'TT'}],\n", - " 'PMC4599281': [{'variant_id': 'rs2257212',\n", - " 'gene': 'SLC15A2',\n", - " 'allele': 'CC'}],\n", - " 'PMC6631257': [{'variant_id': 'CYP2D6 normal metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 normal metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 ultrarapid metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor metabolizers and intermediate metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC3275159': [{'variant_id': 'rs1804645', 'gene': 'NCOA1', 'allele': 'CT'},\n", - " {'variant_id': 'rs1804645', 'gene': 'NCOA1', 'allele': 'CT'},\n", - " {'variant_id': 'rs1804645', 'gene': 'NCOA1', 'allele': 'CT'},\n", - " {'variant_id': 'rs1804645', 'gene': 'NCOA1', 'allele': 'T'},\n", - " {'variant_id': 'rs1804645', 'gene': 'NCOA1', 'allele': 'T'}],\n", - " 'PMC3775934': [{'variant_id': 'rs2869950', 'gene': 'CHRNB4', 'allele': 'T'},\n", - " {'variant_id': 'rs578776', 'gene': 'CHRNA3', 'allele': 'G'},\n", - " {'variant_id': 'rs16969968', 'gene': 'CHRNA5', 'allele': 'G'}],\n", - " 'PMC9504609': [{'variant_id': 'rs1142345',\n", - " 'gene': 'TPMT',\n", - " 'allele': 'CC + CT'}],\n", - " 'PMC3048820': [{'variant_id': 'CYP2C19 intermediate metabolizer genotype',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2C19 intermediate metabolizer genotype',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2C19 poor metabolizer genotype',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2C19 poor metabolizer genotype',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None}],\n", - " 'PMC3784025': [{'variant_id': 'rs352428', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs352428', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs9380524', 'gene': 'FKBP5', 'allele': 'A'}],\n", - " 'PMC2692932': [{'variant_id': 'rs762551', 'gene': 'CYP1A2', 'allele': 'A'}],\n", - " 'PMC10049548': [{'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GG'},\n", - " {'variant_id': 'rs2242480', 'gene': 'CYP3A4', 'allele': 'C'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'C'}],\n", - " 'PMC2885890': [{'variant_id': 'rs6473797', 'gene': 'OPRK1', 'allele': 'C'},\n", - " {'variant_id': 'rs1534891', 'gene': 'CSNK1E', 'allele': 'T'},\n", - " {'variant_id': 'rs694066', 'gene': 'GAL', 'allele': 'A'},\n", - " {'variant_id': 'rs2236861', 'gene': 'OPRD1', 'allele': 'A'},\n", - " {'variant_id': 'rs3766951', 'gene': 'OPRD1', 'allele': 'C'},\n", - " {'variant_id': 'rs2236857', 'gene': 'OPRD1', 'allele': 'C'},\n", - " {'variant_id': 'rs3758987', 'gene': 'HTR3B', 'allele': 'C'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs3778151', 'gene': 'OPRM1', 'allele': 'C'},\n", - " {'variant_id': 'rs510769', 'gene': 'OPRM1', 'allele': 'T'}],\n", - " 'PMC3647228': [{'variant_id': 'rs11045585',\n", - " 'gene': 'SLCO1B3',\n", - " 'allele': 'AA'},\n", - " {'variant_id': 'rs12762549', 'gene': 'ABCC2', 'allele': 'CC'},\n", - " {'variant_id': 'rs11045585', 'gene': 'SLCO1B3', 'allele': 'AA'},\n", - " {'variant_id': 'rs12762549', 'gene': 'ABCC2', 'allele': 'CG + GG'}],\n", - " 'PMC3081884': [{'variant_id': 'rs16969968', 'gene': 'CHRNA5', 'allele': 'G'},\n", - " {'variant_id': 'rs1051730', 'gene': 'CHRNA3', 'allele': 'G'},\n", - " {'variant_id': 'rs16969968', 'gene': 'CHRNA5', 'allele': 'A'},\n", - " {'variant_id': 'rs1051730', 'gene': 'CHRNA3', 'allele': 'A'}],\n", - " 'PMC9578229': [{'variant_id': 'CYP2C8 poor metabolizer genotype',\n", - " 'gene': 'CYP2C8',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2C9 poor metabolizer genotype',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': None}],\n", - " 'PMC5941712': [{'variant_id': 'rs1500', 'gene': 'CRHBP', 'allele': 'G'},\n", - " {'variant_id': 'rs10482672', 'gene': 'NR3C1', 'allele': 'A'},\n", - " {'variant_id': 'rs4234955', 'gene': 'NPY1R, NPY5R', 'allele': 'G'}],\n", - " 'PMC1721229': [{'variant_id': 'CYP2D6*1, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*41'}],\n", - " 'PMC10058912': [{'variant_id': 'CYP2D6 poor metabolizer genotype',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC4308646': [{'variant_id': 'CYP2D6 poor metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 normal metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC1884377': [{'variant_id': 'CYP2D6 poor metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2 + *2/*3'}],\n", - " 'PMC3162652': [{'variant_id': 'CYP2D6 poor metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC4522406': [{'variant_id': 'CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*9, CYP2C9*11',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*1/*1'},\n", - " {'variant_id': 'CYP2C8*1, CYP2C8*2, CYP2C8*3, CYP2C8*5, CYP2C8*6, CYP2C8*8, CYP2C8*9, CYP2C8*11',\n", - " 'gene': 'CYP2C8',\n", - " 'allele': '*1/*1'}],\n", - " 'PMC2991048': [{'variant_id': 'CYP2D6 normal metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 normal metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC4554698': [{'variant_id': 'rs35694136', 'gene': 'CYP1A2', 'allele': 'T'},\n", - " {'variant_id': 'rs762551', 'gene': 'CYP1A2', 'allele': 'A'},\n", - " {'variant_id': 'rs5751876', 'gene': 'ADORA2A', 'allele': 'C'},\n", - " {'variant_id': 'rs3032740', 'gene': 'ADORA2A', 'allele': 'TTTTT'}],\n", - " 'PMC3394993': [{'variant_id': 'CYP2D6 poor metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC3594083': [{'variant_id': 'CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*2'},\n", - " {'variant_id': 'CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2/*2'}],\n", - " 'PMC3843022': [{'variant_id': 'rs1065852', 'gene': 'CYP2D6', 'allele': 'AA'}],\n", - " 'PMC4534836': [{'variant_id': 'rs112445441', 'gene': 'KRAS', 'allele': 'T'}],\n", - " 'PMC3080612': [{'variant_id': 'rs762551', 'gene': 'CYP1A2', 'allele': 'A'},\n", - " {'variant_id': 'rs6968865', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs2472297', 'gene': 'CYP1A1', 'allele': 'T'}],\n", - " 'PMC3418550': [{'variant_id': 'rs761142', 'gene': 'GCLC', 'allele': 'AA'},\n", - " {'variant_id': 'rs761142', 'gene': 'GCLC', 'allele': 'A'},\n", - " {'variant_id': 'rs761142', 'gene': 'GCLC', 'allele': 'CC'}],\n", - " 'PMC2014324': [{'variant_id': 'CYP2C19 normal metabolizers',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None}],\n", - " 'PMC10946077': [{'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*6 + *28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*6'}],\n", - " 'PMC10951231': [{'variant_id': 'CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10/*10'},\n", - " {'variant_id': 'CYP2D6*10', 'gene': 'CYP2D6', 'allele': '*10/*10'},\n", - " {'variant_id': 'CYP2D6*10', 'gene': 'CYP2D6', 'allele': '*10/*10'}],\n", - " 'PMC10968582': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*4 + *4/*4'}],\n", - " 'PMC3590652': [{'variant_id': 'rs2276707', 'gene': 'NR1I2', 'allele': 'TT'},\n", - " {'variant_id': 'rs2981582', 'gene': 'FGFR2', 'allele': 'AA'},\n", - " {'variant_id': 'rs2307424', 'gene': 'NR1I3', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs307826', 'gene': 'FLT4', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs4073054', 'gene': 'NR1I3', 'allele': 'AA'},\n", - " {'variant_id': 'rs307821', 'gene': 'FLT4', 'allele': 'AA + AC'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AG + GG'}],\n", - " 'PMC10995391': [{'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': None},\n", - " {'variant_id': 'NAT2 slow acetylator', 'gene': 'NAT2', 'allele': None},\n", - " {'variant_id': 'NAT2 slow acetylator', 'gene': 'NAT2', 'allele': None},\n", - " {'variant_id': 'rs6413432', 'gene': 'CYP2E1', 'allele': 'A'},\n", - " {'variant_id': 'NAT2 slow acetylator', 'gene': 'NAT2', 'allele': None}],\n", - " 'PMC11021981': [{'variant_id': 'HLA-DRB1*04:03',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*04:03'},\n", - " {'variant_id': 'HLA-DRB1*14:54', 'gene': 'HLA-DRB1', 'allele': '*14:54'},\n", - " {'variant_id': 'HLA-DRB1*04:03', 'gene': 'HLA-DRB1', 'allele': '*04:03'},\n", - " {'variant_id': 'rs62242178', 'gene': 'LIMD1', 'allele': 'C'},\n", - " {'variant_id': 'rs62242177', 'gene': 'LIMD1', 'allele': 'G'}],\n", - " 'PMC11040848': [{'variant_id': 'HLA-B*58:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*58:01'},\n", - " {'variant_id': 'rs9263745', 'gene': 'CCHCR1', 'allele': 'A'},\n", - " {'variant_id': 'rs3099844', 'gene': 'CYCSP5', 'allele': 'A'},\n", - " {'variant_id': 'rs9263733', 'gene': 'PSORS1C2', 'allele': 'T'},\n", - " {'variant_id': 'rs9263726', 'gene': 'PSORS1C1, PSORS1C2', 'allele': 'A'}],\n", - " 'PMC11050003': [{'variant_id': 'SLCO1B1*15',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*15'},\n", - " {'variant_id': 'SLCO1B1*20', 'gene': 'SLCO1B1', 'allele': '*20'},\n", - " {'variant_id': 'SLCO1B1*37', 'gene': 'SLCO1B1', 'allele': '*37'},\n", - " {'variant_id': 'SLCO1B1*5', 'gene': 'SLCO1B1', 'allele': '*5'},\n", - " {'variant_id': 'SLCO1B1*15', 'gene': 'SLCO1B1', 'allele': '*15'},\n", - " {'variant_id': 'SLCO1B1*5', 'gene': 'SLCO1B1', 'allele': '*5'},\n", - " {'variant_id': 'SLCO1B1*15', 'gene': 'SLCO1B1', 'allele': '*15'},\n", - " {'variant_id': 'SLCO1B1*14', 'gene': 'SLCO1B1', 'allele': '*14'},\n", - " {'variant_id': 'rs374113543', 'gene': 'SLCO1B1', 'allele': 'A'},\n", - " {'variant_id': 'rs373327528', 'gene': 'SLCO1B1', 'allele': 'A'}],\n", - " 'PMC11162739': [{'variant_id': 'CYP3A5*1, CYP3A5*3, CYP3A5*6',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1'}],\n", - " 'PMC3128690': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'}],\n", - " 'PMC11062152': [{'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*6 + *28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*6/*6 + *28/*28 + *6/*28'}],\n", - " 'PMC11179831': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3'}],\n", - " 'PMC3207930': [{'variant_id': 'rs602633',\n", - " 'gene': 'CELSR2, PSRC1',\n", - " 'allele': 'T'},\n", - " {'variant_id': 'rs445925', 'gene': 'APOC1, APOE', 'allele': 'A'},\n", - " {'variant_id': 'rs174541',\n", - " 'gene': 'FADS1, FEN1, MIR611, TMEM258',\n", - " 'allele': 'T'},\n", - " {'variant_id': 'rs258494', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs6511720', 'gene': 'LDLR', 'allele': 'T'}],\n", - " 'PMC2749467': [{'variant_id': 'rs2230345', 'gene': 'GRK5', 'allele': 'AA'},\n", - " {'variant_id': 'rs1801253', 'gene': 'ADRB1', 'allele': 'CC'},\n", - " {'variant_id': 'rs2230345', 'gene': 'GRK5', 'allele': 'AA'},\n", - " {'variant_id': 'rs1801253', 'gene': 'ADRB1', 'allele': 'CC'},\n", - " {'variant_id': 'rs2230345', 'gene': 'GRK5', 'allele': 'AA'}],\n", - " 'PMC11124388': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'}],\n", - " 'PMC3394137': [{'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs28399499', 'gene': 'CYP2B6', 'allele': 'C'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'A'}],\n", - " 'PMC2745641': [{'variant_id': 'rs1110976', 'gene': 'DRD2', 'allele': 'GG'},\n", - " {'variant_id': 'rs5751876', 'gene': 'ADORA2A', 'allele': 'TT'},\n", - " {'variant_id': 'rs2298383', 'gene': 'ADORA2A', 'allele': 'CC'},\n", - " {'variant_id': 'rs4822492', 'gene': None, 'allele': 'CC'}],\n", - " 'PMC2518503': [{'variant_id': 'rs1111875', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs10811661', 'gene': None, 'allele': 'C'}],\n", - " 'PMC4006820': [{'variant_id': 'rs9332377', 'gene': 'COMT', 'allele': 'T'},\n", - " {'variant_id': 'rs1051640', 'gene': 'ABCC3', 'allele': 'G'},\n", - " {'variant_id': 'rs4646316', 'gene': 'COMT', 'allele': 'C'},\n", - " {'variant_id': 'rs12201199', 'gene': 'TPMT', 'allele': 'T'},\n", - " {'variant_id': 'rs1800460', 'gene': 'TPMT', 'allele': 'T'},\n", - " {'variant_id': 'rs1142345', 'gene': 'TPMT', 'allele': 'C'}],\n", - " 'PMC9484078': [{'variant_id': 'rs316003',\n", - " 'gene': 'SLC22A2',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1448784', 'gene': 'ABCG2', 'allele': 'GG'}],\n", - " 'PMC3880259': [{'variant_id': 'rs717620', 'gene': 'ABCC2', 'allele': 'T'},\n", - " {'variant_id': 'rs868853', 'gene': 'ABCC4', 'allele': 'C'},\n", - " {'variant_id': 'rs2274407', 'gene': 'ABCC4', 'allele': 'A'},\n", - " {'variant_id': 'rs9516519', 'gene': 'ABCC4', 'allele': 'G'},\n", - " {'variant_id': 'rs3740065', 'gene': 'ABCC2', 'allele': 'G'},\n", - " {'variant_id': 'rs2231137', 'gene': 'ABCG2', 'allele': 'C'},\n", - " {'variant_id': 'rs717620', 'gene': 'ABCC2', 'allele': 'T'}],\n", - " 'PMC3529742': [{'variant_id': 'rs17137967',\n", - " 'gene': None,\n", - " 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs12795437', 'gene': 'KCNJ1', 'allele': 'C'},\n", - " {'variant_id': 'rs11600347', 'gene': 'KCNJ1', 'allele': 'A'},\n", - " {'variant_id': 'rs658903', 'gene': 'KCNJ1', 'allele': 'A'},\n", - " {'variant_id': 'rs675388', 'gene': 'KCNJ1', 'allele': 'A'},\n", - " {'variant_id': 'rs2846680', 'gene': 'KCNJ1', 'allele': 'A'},\n", - " {'variant_id': 'rs59172778', 'gene': 'KCNJ1', 'allele': 'AG'},\n", - " {'variant_id': 'rs59172778', 'gene': 'KCNJ1', 'allele': 'G'}],\n", - " 'PMC4943390': [{'variant_id': 'CYP2D6 normal metabolizer and ultrarapid metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor metabolizers and intermediate metabolizers',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC3055324': [{'variant_id': 'rs2072660', 'gene': 'CHRNB2', 'allele': 'T'},\n", - " {'variant_id': 'rs2072661', 'gene': 'CHRNB2', 'allele': 'A'}],\n", - " 'PMC8822703': [{'variant_id': 'rs3735451', 'gene': 'CYP3A4', 'allele': 'CC'},\n", - " {'variant_id': 'rs10882526', 'gene': 'CYP2C8', 'allele': 'GG'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'TT'}],\n", - " 'PMC2291379': [{'variant_id': 'CYP2D6*1, CYP2D6*4',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'},\n", - " {'variant_id': 'rs3892097', 'gene': 'CYP2D6', 'allele': 'TT'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*4', 'gene': 'CYP2D6', 'allele': '*4/*4'},\n", - " {'variant_id': 'rs3892097', 'gene': 'CYP2D6', 'allele': 'TT'}],\n", - " 'PMC5352797': [{'variant_id': 'rs1131882', 'gene': 'TBXA2R', 'allele': 'A'}],\n", - " 'PMC4259283': [{'variant_id': 'rs11280056',\n", - " 'gene': 'TYMS',\n", - " 'allele': 'TTAAAGTTA/TTAAAGTTA'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'GG'}],\n", - " 'PMC2855513': [{'variant_id': 'rs12806698', 'gene': 'RRM1', 'allele': 'AC'},\n", - " {'variant_id': 'rs9937', 'gene': 'RRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1042858', 'gene': 'RRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1042858', 'gene': 'RRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs12806698', 'gene': 'RRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs9937', 'gene': 'RRM1', 'allele': 'GG'}],\n", - " 'PMC11204263': [{'variant_id': 'rs3892097',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': 'CT + TT'}],\n", - " 'PMC2039873': [{'variant_id': 'rs3211371', 'gene': 'CYP2B6', 'allele': 'TT'},\n", - " {'variant_id': 'rs3211371', 'gene': 'CYP2B6', 'allele': 'CT'},\n", - " {'variant_id': 'rs1800497', 'gene': 'ANKK1', 'allele': 'GG'}],\n", - " 'PMC2819190': [{'variant_id': 'rs11628713', 'gene': 'PAPLN', 'allele': 'T'}],\n", - " 'PMC2262891': [{'variant_id': 'rs13181',\n", - " 'gene': 'ERCC2',\n", - " 'allele': 'GG + GT'}],\n", - " 'PMC10993165': [{'variant_id': 'HLA-B*15:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-B*13:01', 'gene': 'HLA-B', 'allele': '*13:01'},\n", - " {'variant_id': 'HLA-B*38:02', 'gene': 'HLA-B', 'allele': '*38:02'}],\n", - " 'PMC9501033': [{'variant_id': 'rs3842', 'gene': 'ABCB1', 'allele': 'CC'},\n", - " {'variant_id': 'rs13306198', 'gene': 'APOB', 'allele': 'AA + AG'}],\n", - " 'PMC11143062': [{'variant_id': 'CYP2C19 rapid metabolizer',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None}],\n", - " 'PMC11154978': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3'}],\n", - " 'PMC4171106': [{'variant_id': 'rs784888', 'gene': 'SP1', 'allele': 'G'},\n", - " {'variant_id': 'rs784892', 'gene': 'AMHR2', 'allele': 'G'},\n", - " {'variant_id': 'rs784892', 'gene': 'AMHR2', 'allele': 'G'},\n", - " {'variant_id': 'rs2683511', 'gene': 'SP1', 'allele': 'C'},\n", - " {'variant_id': 'rs10747673', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs10747673', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs784888', 'gene': 'SP1', 'allele': 'G'},\n", - " {'variant_id': 'rs149711321', 'gene': 'PPARA', 'allele': 'T'},\n", - " {'variant_id': 'rs2683511', 'gene': 'SP1', 'allele': 'C'}],\n", - " 'PMC11255757': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*9, CYP2C19*13, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *2/*17 + *1/*9 + *2/*13 + *9/*17 + *2/*2'}],\n", - " 'PMC6946839': [{'variant_id': 'CYP2C19 intermediate metabolizer',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None}],\n", - " 'PMC5485718': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'},\n", - " {'variant_id': 'rs12456693', 'gene': 'SLC14A2', 'allele': 'CT'},\n", - " {'variant_id': 'rs2487032', 'gene': 'ABCA1', 'allele': 'A'},\n", - " {'variant_id': 'rs2254638', 'gene': 'N6AMT1', 'allele': 'G'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2', 'gene': 'CYP2C19', 'allele': '*2'},\n", - " {'variant_id': 'rs2254638', 'gene': 'N6AMT1', 'allele': 'AG + GG'}],\n", - " 'PMC11232816': [{'variant_id': 'CYP2C9*1, CYP2C9*2',\n", - " 'gene': 'CYP2C9',\n", - " 'allele': '*2'}],\n", - " 'PMC11421297': [{'variant_id': 'HLA-A*26:01',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*26:01'}],\n", - " 'PMC11203737': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*1 + *1/*3'}],\n", - " 'PMC10344568': [{'variant_id': 'rs12979860',\n", - " 'gene': 'IFNL3, IFNL4',\n", - " 'allele': 'TT'}],\n", - " 'PMC11204531': [{'variant_id': 'HLA-DPB1*05:01',\n", - " 'gene': 'HLA-DPB1',\n", - " 'allele': '*05:01'},\n", - " {'variant_id': 'HLA-A*11:01', 'gene': 'HLA-A', 'allele': '*11:01'}],\n", - " 'PMC11201799': [{'variant_id': 'NAT2*5, NAT2*6, NAT2*30',\n", - " 'gene': 'NAT2',\n", - " 'allele': '*5 + *6 + *30'},\n", - " {'variant_id': 'rs1799930', 'gene': 'NAT2', 'allele': 'A'},\n", - " {'variant_id': 'rs1801280', 'gene': 'NAT2', 'allele': 'C'}],\n", - " 'PMC11218103': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28'}],\n", - " 'PMC3349771': [{'variant_id': 'rs892940', 'gene': 'THRB', 'allele': 'A'}],\n", - " 'PMC2949659': [{'variant_id': 'CYP2D6*1, CYP2D6*4, CYP2D6*5, CYP2D6*9, CYP2D6*10, CYP2D6*41',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*4 + *5 + *9 + *10 + *41'}],\n", - " 'PMC4345853': [{'variant_id': 'CYP2D6*1, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*10'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs2306283', 'gene': 'SLCO1B1', 'allele': 'AG + GG'}],\n", - " 'PMC11245871': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC3691683': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'}],\n", - " 'PMC11282083': [{'variant_id': 'HLA-B*55:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*55:02'},\n", - " {'variant_id': 'HLA-C*01:02', 'gene': 'HLA-C', 'allele': '*01:02'},\n", - " {'variant_id': 'HLA-DQB1*06:09', 'gene': 'HLA-DQB1', 'allele': '*06:09'}],\n", - " 'PMC11451421': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3'}],\n", - " 'PMC11165025': [{'variant_id': 'HLA-B*15:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:01'}],\n", - " 'PMC8707980': [{'variant_id': 'rs200643089', 'gene': 'DPYD', 'allele': 'AC'},\n", - " {'variant_id': 'rs76387818', 'gene': 'DPYD', 'allele': 'AG'},\n", - " {'variant_id': 'rs367619008', 'gene': 'DPYD', 'allele': 'C'},\n", - " {'variant_id': 'rs944174134', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs2786783', 'gene': 'DPYD', 'allele': 'A'}],\n", - " 'PMC11246114': [{'variant_id': 'rs5219',\n", - " 'gene': 'ABCC8, KCNJ11',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs2289669', 'gene': 'SLC47A1', 'allele': 'A'},\n", - " {'variant_id': 'rs72552763', 'gene': 'SLC22A1', 'allele': 'GAT/del'},\n", - " {'variant_id': 'rs628031', 'gene': 'SLC22A1', 'allele': 'AA + AG'}],\n", - " 'PMC11269678': [{'variant_id': 'HLA-DQA1*05',\n", - " 'gene': 'HLA-DQA1',\n", - " 'allele': '*05'},\n", - " {'variant_id': 'rs2097432', 'gene': None, 'allele': 'CC + CT'},\n", - " {'variant_id': 'HLA-DQA1*05', 'gene': 'HLA-DQA1', 'allele': '*05'}],\n", - " 'PMC11286099': [{'variant_id': 'NUDT15*1, NUDT15*3',\n", - " 'gene': 'NUDT15',\n", - " 'allele': '*1/*3'},\n", - " {'variant_id': 'TPMT*1, TPMT*3C', 'gene': 'TPMT', 'allele': '*1/*3C'}],\n", - " 'PMC11480601': [{'variant_id': 'CYP3A5*1, CYP3A5*3, CYP3A5*6',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*3 + *1/*6 + *3/*3 + *3/*6'}],\n", - " 'PMC11288125': [{'variant_id': 'HLA-B*57:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*57:01'}],\n", - " 'PMC11480591': [{'variant_id': 'GSTT1 non-null, GSTT1 null',\n", - " 'gene': 'GSTT1',\n", - " 'allele': None},\n", - " {'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': None},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'AG + GG'}],\n", - " 'PMC11324585': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2'}],\n", - " 'PMC11328459': [{'variant_id': 'CYP2C19 poor metabolizer',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None}],\n", - " 'PMC7653527': [{'variant_id': 'UGT1A1*1, UGT1A1*6',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*6 + *6/*6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*1/*28'}],\n", - " 'PMC11331244': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'}],\n", - " 'PMC3516223': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*1'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28 + *1/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*6/*6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*6/*6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28 + *1/*28'}],\n", - " 'PMC11159193': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *1/*6'}],\n", - " 'PMC3117027': [{'variant_id': 'UGT1A1*1, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28'}],\n", - " 'PMC11492647': [{'variant_id': 'UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28 + *6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*28', 'gene': 'UGT1A1', 'allele': '*28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6', 'gene': 'UGT1A1', 'allele': '*6/*6'}],\n", - " 'PMC11359404': [{'variant_id': 'CYP2D6 intermediate metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'NAT2 slow acetylator', 'gene': 'NAT2', 'allele': None},\n", - " {'variant_id': 'rs2011425', 'gene': 'UGT1A4', 'allele': 'GT'},\n", - " {'variant_id': 'rs2008584', 'gene': 'UGT1A3', 'allele': 'AA'},\n", - " {'variant_id': 'rs12708954', 'gene': 'SLC6A2', 'allele': 'CC'},\n", - " {'variant_id': 'rs1051266', 'gene': 'SLC19A1', 'allele': 'TT'},\n", - " {'variant_id': 'CYP2D6 intermediate metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'SLCO1B1 deficiency', 'gene': 'SLCO1B1', 'allele': None}],\n", - " 'PMC11354576': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AG'},\n", - " {'variant_id': 'CYP2D6 ultrarapid metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC11359302': [{'variant_id': 'CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*3/*3'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GT'},\n", - " {'variant_id': 'rs2622604', 'gene': 'ABCG2', 'allele': 'CT'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'GG'}],\n", - " 'PMC4915569': [{'variant_id': 'CYP2C19*1, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*17'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*8',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3 + *8'},\n", - " {'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*8',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2 + *3 + *8'},\n", - " {'variant_id': 'rs71647871', 'gene': 'CES1', 'allele': 'T'}],\n", - " 'PMC10661737': [{'variant_id': 'CYP2D6*1, CYP2D6*1x2, CYP2D6*2, CYP2D6*2x2, CYP2D6*2xN, CYP2D6*4, CYP2D6*9, CYP2D6*10, CYP2D6*41, CYP2D6*41x2',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*1x2 + *1/*2x2 + *1x2/*41 + *2/*2x2 + *2xN/*4 + *1/*1 + *1/*10 + *1/*2 + *1/*41 + *1/*41x2 + *1/*9 + *2/*2 + *2/*41 + *2/*9'}],\n", - " 'PMC11345242': [{'variant_id': 'HLA-B*15:02',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:02'}],\n", - " 'PMC5488790': [{'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*6 + *28'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*6 + *28'}],\n", - " 'PMC5480170': [{'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28 + *6/*6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*28 + *28/*28 + *6/*6'},\n", - " {'variant_id': 'DPYD c.1627A>G (*5)',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'c.1627A>G (*5)'}],\n", - " 'PMC1442447': [{'variant_id': 'NAT2 slow acetylator',\n", - " 'gene': 'NAT2',\n", - " 'allele': None}],\n", - " 'PMC7995603': [{'variant_id': 'CYP3A4 poor metabolizer',\n", - " 'gene': 'CYP3A4',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP3A5 poor metabolizer', 'gene': 'CYP3A5', 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor metabolizer', 'gene': 'CYP2D6', 'allele': None},\n", - " {'variant_id': 'rs1414334', 'gene': 'HTR2C', 'allele': 'G'},\n", - " {'variant_id': 'rs6280', 'gene': 'DRD3', 'allele': 'T'},\n", - " {'variant_id': 'rs1799978', 'gene': 'DRD2', 'allele': 'C'},\n", - " {'variant_id': 'rs6277', 'gene': 'DRD2', 'allele': 'A'},\n", - " {'variant_id': 'rs6311', 'gene': 'HTR2A', 'allele': 'TT'}],\n", - " 'PMC3151555': [{'variant_id': 'rs6280', 'gene': 'DRD3', 'allele': 'CC + CT'}],\n", - " 'PMC4291053': [{'variant_id': 'CYP2A6 low activity',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': None}],\n", - " 'PMC11538333': [{'variant_id': 'rs2268979', 'gene': 'ACTN1', 'allele': 'T'},\n", - " {'variant_id': 'rs12235805', 'gene': 'PAPPA', 'allele': 'A'},\n", - " {'variant_id': 'rs12253008', 'gene': 'NRG3', 'allele': 'T'},\n", - " {'variant_id': 'rs10997459', 'gene': 'LRRTM3', 'allele': 'G'},\n", - " {'variant_id': 'rs8006511', 'gene': 'ARHGAP5', 'allele': 'G'},\n", - " {'variant_id': 'rs10961381', 'gene': 'NFIB', 'allele': 'G'},\n", - " {'variant_id': 'rs1815857', 'gene': 'MCM3AP', 'allele': 'T'},\n", - " {'variant_id': 'rs12474420', 'gene': 'SPDYA', 'allele': 'T'},\n", - " {'variant_id': 'rs79802223', 'gene': 'METTL8', 'allele': 'G'},\n", - " {'variant_id': 'rs12658429', 'gene': 'PDE4D', 'allele': 'C'},\n", - " {'variant_id': 'rs12656510', 'gene': 'FBN2', 'allele': 'T'},\n", - " {'variant_id': 'rs17129858', 'gene': 'VTI1A', 'allele': 'T'},\n", - " {'variant_id': 'rs200858088', 'gene': 'ZFAND3', 'allele': 'C'}],\n", - " 'PMC11430620': [{'variant_id': 'DPYD c.2194G>A (*6)',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'c.2194G>A (*6)'}],\n", - " 'PMC6006041': [{'variant_id': 'rs1801265',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'AT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC11441158': [{'variant_id': 'DPYD c.1129-5923C>G, c.1236G>A (HapB3), DPYD c.1679T>G (*13), DPYD c.2846A>T',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'c.2846A>T + c.1129-5923C>G, c.1236G>A (HapB3) + c.1679T>G (*13)'}],\n", - " 'PMC11456491': [{'variant_id': 'DPYD c.2846A>T, DPYD c.2872A>G',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'c.2872A>G + c.2846A>T'}],\n", - " 'PMC3491093': [{'variant_id': 'rs1045642',\n", - " 'gene': 'ABCB1',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA'}],\n", - " 'PMC7417535': [{'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28 + *1/*28 + *1/*6 + *6/*28'}],\n", - " 'PMC7137309': [{'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*1'}],\n", - " 'PMC8586680': [{'variant_id': 'UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*6'},\n", - " {'variant_id': 'UGT1A1*1, UGT1A1*6, UGT1A1*28',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*28/*28 + *6/*6 + *6/*28'}],\n", - " 'PMC3579268': [{'variant_id': 'CYP2D6 poor metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC1029622': [{'variant_id': 'TPMT deficiency',\n", - " 'gene': 'TPMT',\n", - " 'allele': None},\n", - " {'variant_id': 'TPMT deficiency', 'gene': 'TPMT', 'allele': None}],\n", - " 'PMC4446052': [{'variant_id': 'TPMT intermediate metabolizer',\n", - " 'gene': 'TPMT',\n", - " 'allele': None},\n", - " {'variant_id': 'TPMT intermediate metabolizer',\n", - " 'gene': 'TPMT',\n", - " 'allele': None}],\n", - " 'PMC3898327': [{'variant_id': 'TPMT normal metabolizer',\n", - " 'gene': 'TPMT',\n", - " 'allele': None}],\n", - " 'PMC11695165': [{'variant_id': 'NAT2 rapid acetylator',\n", - " 'gene': 'NAT2',\n", - " 'allele': None},\n", - " {'variant_id': 'rs1799929', 'gene': 'NAT2', 'allele': 'T'}],\n", - " 'PMC11519535': [{'variant_id': 'rs4148325', 'gene': 'UGT1A1', 'allele': 'CT'},\n", - " {'variant_id': 'rs11888492', 'gene': 'UGT1A1', 'allele': 'G'}],\n", - " 'PMC11671340': [{'variant_id': 'SLCO1B1*9, SLCO1B1*37',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*9/*37'}],\n", - " 'PMC5813097': [{'variant_id': 'CYP2C19*1, CYP2C19*2',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2'}],\n", - " 'PMC11578071': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC11703518': [{'variant_id': 'HLA-B*58:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*58:01'},\n", - " {'variant_id': 'HLA-A*02:06', 'gene': 'HLA-A', 'allele': '*02:06'},\n", - " {'variant_id': 'HLA-C*08:01', 'gene': 'HLA-C', 'allele': '*08:01'}],\n", - " 'PMC11603346': [{'variant_id': 'CYP2B6*1, CYP2B6*6',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*1/*6 + *6/*6'},\n", - " {'variant_id': 'CYP2B6*1, CYP2B6*6',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*1/*6 + *6/*6'}],\n", - " 'PMC11950614': [{'variant_id': 'HLA-B*58:01',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*58:01'}],\n", - " 'PMC11178516': [{'variant_id': 'CYP2C19*1, CYP2C19*2, CYP2C19*3',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*1/*2 + *1/*3 + *2/*2 + *2/*3 + *3/*3'}],\n", - " 'PMC11622454': [{'variant_id': 'NAT2*5, NAT2*6, NAT2*7',\n", - " 'gene': 'NAT2',\n", - " 'allele': '*5/*7 + *5/*6 + *6/*6'}],\n", - " 'PMC11703413': [{'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*4xN, CYP2D6*5, CYP2D6*9, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*4 + *1/*5 + *2/*4 + *2/*4xN + *4/*4'},\n", - " {'variant_id': 'CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*4xN, CYP2D6*5, CYP2D6*9, CYP2D6*10',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*1/*4 + *1/*5 + *2/*4 + *2/*4xN + *4/*4'}],\n", - " 'PMC11606684': [{'variant_id': 'GSTM1 non-null, GSTM1 null',\n", - " 'gene': 'GSTM1',\n", - " 'allele': None},\n", - " {'variant_id': 'GSTT1 non-null, GSTT1 null',\n", - " 'gene': 'GSTT1',\n", - " 'allele': None}],\n", - " 'PMC4533232': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*3'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'CYP3A5*1, CYP3A5*3', 'gene': 'CYP3A5', 'allele': '*1/*3'}],\n", - " 'PMC7215842': [{'variant_id': 'CYP2D6 intermediate metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC10858860': [{'variant_id': 'rs1799971',\n", - " 'gene': 'OPRM1',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AA + AG'}],\n", - " 'PMC11628428': [{'variant_id': 'DPYD c.85T>C (*9A)',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'c.85T>C (*9A)/c.85T>C (*9A)'},\n", - " {'variant_id': 'DPYD c.1627A>G (*5)',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'c.1627A>G (*5)/c.1627A>G (*5)'}],\n", - " 'PMC11634619': [{'variant_id': 'SLCO1B1*1, SLCO1B1*15, SLCO1B1*37',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': '*37/*37 + *37/*15'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AG + GG'}],\n", - " 'PMC11661530': [{'variant_id': 'UGT1A1*1, UGT1A1*36',\n", - " 'gene': 'UGT1A1',\n", - " 'allele': '*1/*36'},\n", - " {'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'AT'},\n", - " {'variant_id': 'rs1801160', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC2950822': [{'variant_id': 'rs12042763', 'gene': 'PTGS2', 'allele': 'GG'}],\n", - " 'PMC12008353': [{'variant_id': 'rs1052576', 'gene': 'CASP9', 'allele': 'T'},\n", - " {'variant_id': 'rs4661636', 'gene': 'CASP9', 'allele': 'C'},\n", - " {'variant_id': 'rs6736233', 'gene': 'CASP8', 'allele': 'G'},\n", - " {'variant_id': 'rs1800630', 'gene': 'TNF', 'allele': 'C'}],\n", - " 'PMC10537526': [{'variant_id': 'CYP2D6 poor metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 poor metabolizer', 'gene': 'CYP2D6', 'allele': None}],\n", - " 'PMC5427156': [{'variant_id': 'CYP2C19*2, CYP2C19*17',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': '*2/*17'}],\n", - " 'PMC10607223': [{'variant_id': 'rs34059508',\n", - " 'gene': 'SLC22A1',\n", - " 'allele': 'AG'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs34059508', 'gene': 'SLC22A1', 'allele': 'AG'}],\n", - " 'PMC11732454': [{'variant_id': 'HLA-A*24:02',\n", - " 'gene': 'HLA-A',\n", - " 'allele': '*24:02'},\n", - " {'variant_id': 'HLA-B*15:02', 'gene': 'HLA-B', 'allele': '*15:02'},\n", - " {'variant_id': 'HLA-A*01:02', 'gene': 'HLA-A', 'allele': '*01:02'},\n", - " {'variant_id': 'HLA-B*52:01', 'gene': 'HLA-B', 'allele': '*52:01'},\n", - " {'variant_id': 'HLA-DRB1*03:01', 'gene': 'HLA-DRB1', 'allele': '*03:01'},\n", - " {'variant_id': 'HLA-DRB1*13:01', 'gene': 'HLA-DRB1', 'allele': '*13:01'},\n", - " {'variant_id': 'HLA-A*02:01', 'gene': 'HLA-A', 'allele': '*02:01'},\n", - " {'variant_id': 'HLA-B*40:02', 'gene': 'HLA-B', 'allele': '*40:02'},\n", - " {'variant_id': 'HLA-A*31:03', 'gene': 'HLA-A', 'allele': '*31:03'}],\n", - " 'PMC10778960': [{'variant_id': 'rs2612091',\n", - " 'gene': 'ENOSF1',\n", - " 'allele': 'TT'}],\n", - " 'PMC2955782': [{'variant_id': 'rs2228075', 'gene': 'IMPDH1', 'allele': 'T'}],\n", - " 'PMC11638798': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC11745869': [{'variant_id': 'rs10764319',\n", - " 'gene': 'CACNB2',\n", - " 'allele': 'CT'},\n", - " {'variant_id': 'rs2236957', 'gene': 'CACNA2D2', 'allele': 'AA'},\n", - " {'variant_id': 'rs1841042', 'gene': 'UGT2B10', 'allele': 'AA'},\n", - " {'variant_id': 'rs3813662', 'gene': 'ADRA2B', 'allele': 'AA + CC'},\n", - " {'variant_id': 'rs8192733', 'gene': 'CYP2A6', 'allele': 'GG'},\n", - " {'variant_id': 'rs3814057', 'gene': 'NR1I2', 'allele': 'CC'}],\n", - " 'PMC3673930': [{'variant_id': 'CYP2D6*2',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': '*2/*2'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'}],\n", - " 'PMC3250350': [{'variant_id': 'rs854560', 'gene': 'PON1', 'allele': 'A'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'A'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'C'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'C'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'C'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'C'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'A'}],\n", - " 'PMC11770582': [{'variant_id': 'HLA-B*15:02, HLA-B*15:12, HLA-B*15:27',\n", - " 'gene': 'HLA-B',\n", - " 'allele': '*15:02 + *15:12 + *15:27'}],\n", - " 'PMC11993291': [{'variant_id': 'rs7807369', 'gene': 'THSD7A', 'allele': 'G'},\n", - " {'variant_id': 'rs1149515', 'gene': None, 'allele': 'C'}],\n", - " 'PMC11802319': [{'variant_id': 'CYP2D6 poor metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC11789932': [{'variant_id': 'CYP2D6 normal metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2D6 ultrarapid metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC11800520': [{'variant_id': 'rs17524572',\n", - " 'gene': 'ERAP2',\n", - " 'allele': 'TT'}],\n", - " 'PMC11786012': [{'variant_id': 'HLA-DRB1*13:01',\n", - " 'gene': 'HLA-DRB1',\n", - " 'allele': '*13:01'},\n", - " {'variant_id': 'HLA-DPB1*02:02', 'gene': 'HLA-DPB1', 'allele': '*02:02'}],\n", - " 'PMC11923007': [{'variant_id': 'CYP2D6 normal metabolizer',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': None}],\n", - " 'PMC5591462': [{'variant_id': 'rs72552763',\n", - " 'gene': 'SLC22A1',\n", - " 'allele': 'del/del'},\n", - " {'variant_id': 'rs12208357', 'gene': 'SLC22A1', 'allele': 'T'}],\n", - " 'PMC4110463': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC2490838': [{'variant_id': 'G6PD deficiency',\n", - " 'gene': 'G6PD',\n", - " 'allele': None}],\n", - " 'PMC11573588': [{'variant_id': 'rs148954387',\n", - " 'gene': 'SPINK1',\n", - " 'allele': 'AG'}],\n", - " 'PMC11905633': [{'variant_id': 'CYP3A5*1, CYP3A5*3',\n", - " 'gene': 'CYP3A5',\n", - " 'allele': '*1/*3'}],\n", - " 'PMC12087686': [{'variant_id': 'rs77271279',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': 'T'},\n", - " {'variant_id': 'rs59502379', 'gene': 'SLCO1B1', 'allele': 'C'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'C'}],\n", - " 'PMC3055343': [{'variant_id': 'rs1049353', 'gene': 'CNR1', 'allele': 'CC'},\n", - " {'variant_id': 'rs806378', 'gene': 'CNR1', 'allele': 'CT + TT'}],\n", - " 'PMC3071630': [{'variant_id': 'rs4410790', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs2470893', 'gene': 'CYP1A1', 'allele': 'T'}],\n", - " 'PMC2151292': [{'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs1801159', 'gene': 'DPYD', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs1801158', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC3833422': [{'variant_id': 'rs11887534', 'gene': 'ABCG8', 'allele': 'CG'},\n", - " {'variant_id': 'rs11887534', 'gene': 'ABCG8', 'allele': 'CG'}],\n", - " 'PMC3003450': [{'variant_id': 'rs3813929', 'gene': 'HTR2C', 'allele': 'T'},\n", - " {'variant_id': 'rs1414334', 'gene': 'HTR2C', 'allele': 'C'}],\n", - " 'PMC4237616': [{'variant_id': 'rs10878232',\n", - " 'gene': 'WIF1',\n", - " 'allele': 'GG + GT'},\n", - " {'variant_id': 'rs12819505', 'gene': 'WNT5B', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs4541111', 'gene': 'AXIN2', 'allele': 'AA + AC'},\n", - " {'variant_id': 'rs4413407', 'gene': 'CXXC4', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs11868547', 'gene': 'AXIN2', 'allele': 'CC + CG'}],\n", - " 'PMC6930822': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs495491', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs702764', 'gene': 'OPRK1', 'allele': 'C'},\n", - " {'variant_id': 'rs609148', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs6473797', 'gene': 'OPRK1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs6473797', 'gene': 'OPRK1', 'allele': 'C'},\n", - " {'variant_id': 'rs495491', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs702764', 'gene': 'OPRK1', 'allele': 'C'},\n", - " {'variant_id': 'rs609148', 'gene': 'OPRM1', 'allele': 'A'}],\n", - " 'PMC3454425': [{'variant_id': 'TPMT*1, TPMT*3A',\n", - " 'gene': 'TPMT',\n", - " 'allele': '*1/*1'},\n", - " {'variant_id': 'rs1127354', 'gene': 'ITPA', 'allele': 'CC'}],\n", - " 'PMC5972502': [{'variant_id': 'rs267606619',\n", - " 'gene': 'MT-RNR1',\n", - " 'allele': 'T'}],\n", - " 'PMC5958681': [{'variant_id': 'rs267606617',\n", - " 'gene': 'MT-RNR1',\n", - " 'allele': 'G'}],\n", - " 'PMC3320544': [{'variant_id': 'rs2269879',\n", - " 'gene': 'DOT1L',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs2269879', 'gene': 'DOT1L', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs12350051', 'gene': 'MLLT3', 'allele': 'CC + CT'}],\n", - " 'PMC2879583': [{'variant_id': 'rs12364283', 'gene': 'DRD2', 'allele': 'AA'}],\n", - " 'PMC10031538': [{'variant_id': 'rs34394661', 'gene': 'CD80', 'allele': 'AA'}],\n", - " 'PMC4366259': [{'variant_id': 'rs1053023', 'gene': 'STAT3', 'allele': 'C'},\n", - " {'variant_id': 'rs1053005', 'gene': 'STAT3', 'allele': 'C'},\n", - " {'variant_id': 'rs1053004', 'gene': 'STAT3', 'allele': 'G'},\n", - " {'variant_id': 'rs2227956', 'gene': 'HSPA1L', 'allele': 'G'},\n", - " {'variant_id': 'rs1524107', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs2066992', 'gene': 'IL6', 'allele': 'T'},\n", - " {'variant_id': 'rs2069837', 'gene': 'IL6', 'allele': 'G'}],\n", - " 'PMC3410976': [{'variant_id': 'rs135543', 'gene': 'PPARA', 'allele': 'TT'},\n", - " {'variant_id': 'rs9626730', 'gene': 'PPARA', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs135550', 'gene': 'PPARA', 'allele': 'TT'}],\n", - " 'PMC7039325': [{'variant_id': 'CYP2C19 intermediate metabolizer',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None},\n", - " {'variant_id': 'CYP2C19 poor metabolizer',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': None},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs7997012', 'gene': 'HTR2A', 'allele': 'G'},\n", - " {'variant_id': 'rs6313', 'gene': 'HTR2A', 'allele': 'A'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'G'}],\n", - " 'PMC6519044': [{'variant_id': 'rs1013940',\n", - " 'gene': 'SLC5A7',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs10504361', 'gene': 'NKAIN3', 'allele': 'A'},\n", - " {'variant_id': 'rs3784867', 'gene': 'ABCC1', 'allele': 'T'},\n", - " {'variant_id': 'rs924607', 'gene': 'CEP72', 'allele': 'TT'}],\n", - " 'PMC10851571': [{'variant_id': 'rs1229984', 'gene': 'ADH1B', 'allele': 'T'}],\n", - " 'PMC4130802': [{'variant_id': 'rs6947309', 'gene': 'LUC7L2', 'allele': 'T'},\n", - " {'variant_id': 'rs16849146', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs4784333', 'gene': 'FTO', 'allele': 'C'}],\n", - " 'PMC3945213': [{'variant_id': 'rs11603334', 'gene': 'ARAP1', 'allele': 'A'},\n", - " {'variant_id': 'rs340874', 'gene': 'PROX1', 'allele': 'C'}],\n", - " 'PMC3326190': [{'variant_id': 'rs2286455', 'gene': 'PROM1', 'allele': 'CC'},\n", - " {'variant_id': 'rs3130', 'gene': 'PROM1', 'allele': 'CC'},\n", - " {'variant_id': 'rs2286455', 'gene': 'PROM1', 'allele': 'CC'}],\n", - " 'PMC3060561': [{'variant_id': 'rs2357928', 'gene': 'CACNB2', 'allele': 'GG'},\n", - " {'variant_id': 'rs2357928', 'gene': 'CACNB2', 'allele': 'AA'},\n", - " {'variant_id': 'rs2357928', 'gene': 'CACNB2', 'allele': 'AG'},\n", - " {'variant_id': 'rs11014166', 'gene': 'CACNB2', 'allele': 'AA'},\n", - " {'variant_id': 'rs11014166', 'gene': 'CACNB2', 'allele': 'AT + TT'}],\n", - " 'PMC3671611': [{'variant_id': 'rs2252281', 'gene': 'SLC47A1', 'allele': 'CC'},\n", - " {'variant_id': 'rs2252281', 'gene': 'SLC47A1', 'allele': 'CC'},\n", - " {'variant_id': 'rs12943590', 'gene': 'SLC47A2', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs12943590', 'gene': 'SLC47A2', 'allele': 'AA'}],\n", - " 'PMC9562471': [{'variant_id': 'rs4646450', 'gene': 'CYP3A5', 'allele': 'A'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'T'},\n", - " {'variant_id': 'rs6977165', 'gene': 'CYP3A5', 'allele': 'C'}],\n", - " 'PMC5559481': [{'variant_id': 'rs10132552', 'gene': 'MEG3', 'allele': 'C'},\n", - " {'variant_id': 'rs36080650', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs1059698', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs73594404', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs2027701', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs3743773', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs1829346', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs1829346', 'gene': None, 'allele': 'AA'},\n", - " {'variant_id': 'rs2027701', 'gene': None, 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1059698', 'gene': None, 'allele': 'CC'},\n", - " {'variant_id': 'rs73594404', 'gene': None, 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs36080650', 'gene': None, 'allele': 'CC'},\n", - " {'variant_id': 'rs10132552', 'gene': 'MEG3', 'allele': 'CC'}],\n", - " 'PMC3859145': [{'variant_id': 'rs34116584', 'gene': 'AGXT', 'allele': 'T'},\n", - " {'variant_id': 'rs3136228', 'gene': 'MSH6', 'allele': 'GG'},\n", - " {'variant_id': 'rs1799794', 'gene': 'XRCC3', 'allele': 'CC'},\n", - " {'variant_id': 'rs2074087', 'gene': 'ABCC1', 'allele': 'C'},\n", - " {'variant_id': 'rs1885301', 'gene': 'ABCC2', 'allele': 'AA'},\n", - " {'variant_id': 'rs717620', 'gene': 'ABCC2', 'allele': 'TT'},\n", - " {'variant_id': 'rs3740066', 'gene': 'ABCC2', 'allele': 'TT'},\n", - " {'variant_id': 'rs1138272', 'gene': 'GSTP1', 'allele': 'T'},\n", - " {'variant_id': 'rs4426527', 'gene': 'AGXT', 'allele': 'G'}],\n", - " 'PMC10772501': [{'variant_id': 'rs11540822', 'gene': 'CCHCR1', 'allele': 'T'},\n", - " {'variant_id': 'rs2874964', 'gene': 'RFXAP', 'allele': 'G'}],\n", - " 'PMC11000398': [{'variant_id': 'rs9344', 'gene': 'CCND1', 'allele': 'A'},\n", - " {'variant_id': 'rs9344', 'gene': 'CCND1', 'allele': 'AA'}],\n", - " 'PMC3055737': [{'variant_id': 'rs2283265', 'gene': 'DRD2', 'allele': 'AA'},\n", - " {'variant_id': 'rs1125394', 'gene': 'DRD2', 'allele': 'C'},\n", - " {'variant_id': 'rs1076560', 'gene': 'DRD2', 'allele': 'A'},\n", - " {'variant_id': 'rs2283265', 'gene': 'DRD2', 'allele': 'A'}],\n", - " 'PMC11555502': [{'variant_id': 'rs4646449', 'gene': 'CYP3A5', 'allele': 'CC'},\n", - " {'variant_id': 'rs4646453', 'gene': 'CYP3A5', 'allele': 'CC'},\n", - " {'variant_id': 'rs15524', 'gene': 'CYP3A5', 'allele': 'AA'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'CC'},\n", - " {'variant_id': 'rs4646453', 'gene': 'CYP3A5', 'allele': 'CC'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'CC'}],\n", - " 'PMC10039478': [{'variant_id': 'rs1799971',\n", - " 'gene': 'OPRM1',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs677830', 'gene': 'OPRM1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs2296616', 'gene': 'MIR107', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs1011784', 'gene': 'MIR23B', 'allele': 'GG'},\n", - " {'variant_id': 'rs1011784', 'gene': 'MIR23B', 'allele': 'CG + GG'},\n", - " {'variant_id': 'rs677830', 'gene': 'OPRM1', 'allele': 'CT + TT'}],\n", - " 'PMC21386': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1799972', 'gene': 'OPRM1', 'allele': 'T'}],\n", - " 'PMC3377371': [{'variant_id': 'rs510769', 'gene': 'OPRM1', 'allele': 'TT'},\n", - " {'variant_id': 'rs2281617', 'gene': 'OPRM1', 'allele': 'CC'}],\n", - " 'PMC10151137': [{'variant_id': 'rs11265375',\n", - " 'gene': 'NHLH1',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs3806915', 'gene': 'SEMA6A', 'allele': 'A'},\n", - " {'variant_id': 'rs11265375', 'gene': 'NHLH1', 'allele': 'T'},\n", - " {'variant_id': 'rs3806915', 'gene': 'SEMA6A', 'allele': 'A'}],\n", - " 'PMC10189922': [{'variant_id': 'rs915854', 'gene': 'CBS', 'allele': 'TT'},\n", - " {'variant_id': 'rs2839629', 'gene': 'PKNOX1', 'allele': 'AA'}],\n", - " 'PMC3083026': [{'variant_id': 'rs12979860',\n", - " 'gene': 'IFNL3, IFNL4',\n", - " 'allele': 'CC'}],\n", - " 'PMC11277774': [{'variant_id': 'rs4149601', 'gene': 'NEDD4L', 'allele': 'AA'},\n", - " {'variant_id': 'rs1801252', 'gene': 'ADRB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5, ZSCAN25', 'allele': 'CC'}],\n", - " 'PMC4420233': [{'variant_id': 'rs2229109', 'gene': 'ABCB1', 'allele': 'CT'}],\n", - " 'PMC10308004': [{'variant_id': 'rs2000999', 'gene': 'HPR', 'allele': 'GG'},\n", - " {'variant_id': 'rs35283911', 'gene': None, 'allele': 'GG'},\n", - " {'variant_id': 'rs2000999', 'gene': 'HPR', 'allele': 'G'},\n", - " {'variant_id': 'rs35283911', 'gene': None, 'allele': 'G'}],\n", - " 'PMC7270956': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'}],\n", - " 'PMC5694018': [{'variant_id': 'rs3750625', 'gene': 'ADRA2A', 'allele': 'A'},\n", - " {'variant_id': 'rs11195418', 'gene': 'ADRA2A', 'allele': 'G'},\n", - " {'variant_id': 'rs1800038', 'gene': 'ADRA2A', 'allele': 'A'}],\n", - " 'PMC7099631': [{'variant_id': 'rs12422149',\n", - " 'gene': 'SLCO2B1',\n", - " 'allele': 'GG'}],\n", - " 'PMC2963015': [{'variant_id': 'rs3763980', 'gene': 'SLC16A7', 'allele': 'A'}],\n", - " 'PMC4350985': [{'variant_id': 'rs854568', 'gene': 'PON1', 'allele': 'A'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'T'},\n", - " {'variant_id': 'rs13306698', 'gene': 'PON1', 'allele': 'T'},\n", - " {'variant_id': 'rs854572', 'gene': 'PON1', 'allele': 'G'},\n", - " {'variant_id': 'rs854573', 'gene': 'PON1', 'allele': 'T'},\n", - " {'variant_id': 'rs854552', 'gene': 'PON1', 'allele': 'T'},\n", - " {'variant_id': 'rs854565', 'gene': 'PON1', 'allele': 'G'}],\n", - " 'PMC2955237': [{'variant_id': 'rs75017182', 'gene': 'DPYD', 'allele': 'C'},\n", - " {'variant_id': 'rs56038477', 'gene': 'DPYD', 'allele': 'T'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC10319068': [{'variant_id': 'rs7148',\n", - " 'gene': 'TMSB10',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC4165277': [{'variant_id': 'rs11122576',\n", - " 'gene': 'AGT',\n", - " 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs11122576', 'gene': 'AGT', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs11122576', 'gene': 'AGT', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs11122576', 'gene': 'AGT', 'allele': 'CC + CT'}],\n", - " 'PMC9613789': [{'variant_id': 'rs4864950', 'gene': 'KDR', 'allele': 'A'},\n", - " {'variant_id': 'rs4864950', 'gene': 'KDR', 'allele': 'A'},\n", - " {'variant_id': 'rs444904', 'gene': 'PIK3R5', 'allele': 'T'},\n", - " {'variant_id': 'rs4864950', 'gene': 'KDR', 'allele': 'A'},\n", - " {'variant_id': 'rs444904', 'gene': 'PIK3R5', 'allele': 'T'},\n", - " {'variant_id': 'rs2330951', 'gene': 'EGFR', 'allele': 'C'},\n", - " {'variant_id': 'rs11125039', 'gene': 'PRKCE', 'allele': 'G'},\n", - " {'variant_id': 'rs1346563', 'gene': 'ADAMTS18', 'allele': 'A'},\n", - " {'variant_id': 'rs1868089', 'gene': 'EPAS1', 'allele': 'C'},\n", - " {'variant_id': 'rs12366035', 'gene': 'VEGFB', 'allele': 'T'},\n", - " {'variant_id': 'rs12366035', 'gene': 'VEGFB', 'allele': 'T'},\n", - " {'variant_id': 'rs9927200', 'gene': 'WWOX', 'allele': 'A'},\n", - " {'variant_id': 'rs11651488', 'gene': 'MAP2K6', 'allele': 'C'},\n", - " {'variant_id': 'rs17682789', 'gene': 'CDH13', 'allele': 'C'},\n", - " {'variant_id': 'rs917881', 'gene': 'EGFR', 'allele': 'A'},\n", - " {'variant_id': 'rs917881', 'gene': 'EGFR', 'allele': 'A'},\n", - " {'variant_id': 'rs9973653', 'gene': 'EPAS1', 'allele': 'T'},\n", - " {'variant_id': 'rs315498', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs4035887', 'gene': 'EPAS1', 'allele': 'A'},\n", - " {'variant_id': 'rs4035887', 'gene': 'EPAS1', 'allele': 'A'},\n", - " {'variant_id': 'rs10958704', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs7557402', 'gene': 'EPAS1', 'allele': 'G'},\n", - " {'variant_id': 'rs12948059', 'gene': 'MAP2K6', 'allele': 'G'}],\n", - " 'PMC4282597': [{'variant_id': 'rs6465084', 'gene': 'GRM3', 'allele': 'AA'},\n", - " {'variant_id': 'rs1468412', 'gene': 'GRM3', 'allele': 'TT'}],\n", - " 'PMC3619396': [{'variant_id': 'rs45607939', 'gene': 'NAT2', 'allele': 'T'},\n", - " {'variant_id': 'rs1799931', 'gene': 'NAT2', 'allele': 'A'},\n", - " {'variant_id': 'rs1208', 'gene': 'NAT2', 'allele': 'G'},\n", - " {'variant_id': 'rs75160992', 'gene': 'CYB5A', 'allele': 'C'},\n", - " {'variant_id': 'rs77005399', 'gene': 'CYB5A', 'allele': 'T'},\n", - " {'variant_id': 'rs1801280', 'gene': 'NAT2', 'allele': 'C'},\n", - " {'variant_id': 'rs1041983', 'gene': 'NAT2', 'allele': 'T'},\n", - " {'variant_id': 'rs1799930', 'gene': 'NAT2', 'allele': 'A'},\n", - " {'variant_id': 'rs1799929', 'gene': 'NAT2', 'allele': 'T'},\n", - " {'variant_id': 'rs76458556', 'gene': 'CYB5R3', 'allele': 'T'},\n", - " {'variant_id': 'rs7663179', 'gene': 'CYB5A', 'allele': 'T'},\n", - " {'variant_id': 'rs8190370', 'gene': 'CYB5R3', 'allele': 'A'},\n", - " {'variant_id': 'rs7284807', 'gene': 'CYB5R3', 'allele': 'G'},\n", - " {'variant_id': 'rs77499608', 'gene': 'CYB5R3', 'allele': 'G'}],\n", - " 'PMC4566931': [{'variant_id': 'rs1870377', 'gene': 'KDR', 'allele': 'AA'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'GG'},\n", - " {'variant_id': 'rs4073', 'gene': 'CXCL8', 'allele': 'AA'}],\n", - " 'PMC6800829': [{'variant_id': 'rs1042597', 'gene': 'UGT1A8', 'allele': 'G'},\n", - " {'variant_id': 'rs2741049', 'gene': 'UGT1A9', 'allele': 'T'},\n", - " {'variant_id': 'rs2306283', 'gene': 'SLCO1B1', 'allele': 'G'},\n", - " {'variant_id': 'rs3740066', 'gene': 'ABCC2', 'allele': 'T'},\n", - " {'variant_id': 'rs4149117', 'gene': 'SLCO1B3', 'allele': 'T'},\n", - " {'variant_id': 'rs7311358', 'gene': 'SLCO1B3', 'allele': 'G'},\n", - " {'variant_id': 'rs7311358', 'gene': 'SLCO1B3', 'allele': 'G'},\n", - " {'variant_id': 'rs4149117', 'gene': 'SLCO1B3', 'allele': 'T'},\n", - " {'variant_id': 'rs4149117', 'gene': 'SLCO1B3', 'allele': 'T'},\n", - " {'variant_id': 'rs7311358', 'gene': 'SLCO1B3', 'allele': 'G'},\n", - " {'variant_id': 'rs7311358', 'gene': 'SLCO1B3', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs4149117', 'gene': 'SLCO1B3', 'allele': 'GT + TT'},\n", - " {'variant_id': 'rs7311358', 'gene': 'SLCO1B3', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs7311358', 'gene': 'SLCO1B3', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs4149117', 'gene': 'SLCO1B3', 'allele': 'GT + TT'},\n", - " {'variant_id': 'rs4149117', 'gene': 'SLCO1B3', 'allele': 'GT + TT'}],\n", - " 'PMC7202258': [{'variant_id': 'rs2934965', 'gene': 'PNMT', 'allele': 'T'},\n", - " {'variant_id': 'rs2941523', 'gene': 'PNMT', 'allele': 'GG'},\n", - " {'variant_id': 'rs876493', 'gene': 'PNMT', 'allele': 'AA + AG'}],\n", - " 'PMC5754426': [{'variant_id': 'rs2229109', 'gene': 'ABCB1', 'allele': 'CT'},\n", - " {'variant_id': 'rs2229109', 'gene': 'ABCB1', 'allele': 'C'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'C'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'C'},\n", - " {'variant_id': 'rs2229109', 'gene': 'ABCB1', 'allele': 'CT'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'}],\n", - " 'PMC2343589': [{'variant_id': 'rs2305799',\n", - " 'gene': 'ACP5',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs2229531', 'gene': 'ACP5', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs2228570', 'gene': 'VDR', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs6092', 'gene': 'SERPINE1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs6254', 'gene': 'PTH', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1800247', 'gene': 'BGLAP', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs2234693', 'gene': 'ESR1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs2306862', 'gene': 'LRP5', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1138518', 'gene': 'PTH1R', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA + AG'}],\n", - " 'PMC4519298': [{'variant_id': 'rs885036', 'gene': 'MGAT4A', 'allele': 'G'},\n", - " {'variant_id': 'rs885036', 'gene': 'MGAT4A', 'allele': 'G'},\n", - " {'variant_id': 'rs2073016', 'gene': 'APOBEC2', 'allele': 'T'},\n", - " {'variant_id': 'rs2978931', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs4377367', 'gene': 'ARHGEF4', 'allele': 'T'},\n", - " {'variant_id': 'rs2928607', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs11997869', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs2928609', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs2928608', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs2978926', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs2912024', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs2936519', 'gene': None, 'allele': 'G'}],\n", - " 'PMC6889277': [{'variant_id': 'rs2366929', 'gene': 'ADGRV1', 'allele': 'C'}],\n", - " 'PMC3604077': [{'variant_id': 'rs429358',\n", - " 'gene': 'APOE',\n", - " 'allele': 'CC + CT'}],\n", - " 'PMC11011248': [{'variant_id': 'rs932658', 'gene': 'SIRT1', 'allele': 'A'}],\n", - " 'PMC11558073': [{'variant_id': 'rs3892097',\n", - " 'gene': 'CYP2D6',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1057910', 'gene': 'CYP2C9', 'allele': 'AC'},\n", - " {'variant_id': 'rs1137101', 'gene': 'LEPR', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs4880', 'gene': 'SOD2', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1137101', 'gene': 'LEPR', 'allele': 'AG + GG'}],\n", - " 'PMC5411211': [{'variant_id': 'rs6785930',\n", - " 'gene': 'P2RY12',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs6809699', 'gene': 'P2RY12', 'allele': 'AA + AC'},\n", - " {'variant_id': 'rs6785930', 'gene': 'P2RY12', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs6809699', 'gene': 'P2RY12', 'allele': 'AA + AC'}],\n", - " 'PMC2945219': [{'variant_id': 'rs3788853', 'gene': 'XPNPEP2', 'allele': 'A'}],\n", - " 'PMC2664534': [{'variant_id': 'rs7992226', 'gene': 'NALCN', 'allele': 'A'},\n", - " {'variant_id': 'rs9345389', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs4888024', 'gene': None, 'allele': 'G'}],\n", - " 'PMC3909071': [{'variant_id': 'rs274618', 'gene': 'GRM3', 'allele': 'T'},\n", - " {'variant_id': 'rs274622', 'gene': 'GRM3', 'allele': 'C'},\n", - " {'variant_id': 'rs1990040', 'gene': 'GRM3', 'allele': 'A'},\n", - " {'variant_id': 'rs13242038', 'gene': 'GRM3', 'allele': 'T'},\n", - " {'variant_id': 'rs724226', 'gene': 'GRM3', 'allele': 'A'},\n", - " {'variant_id': 'rs2189814', 'gene': 'GRM3', 'allele': 'T'},\n", - " {'variant_id': 'rs917071', 'gene': 'GRM3', 'allele': 'T'},\n", - " {'variant_id': 'rs6465088', 'gene': 'GRM3', 'allele': 'G'},\n", - " {'variant_id': 'rs2299225', 'gene': 'GRM3', 'allele': 'G'},\n", - " {'variant_id': 'rs1468412', 'gene': 'GRM3', 'allele': 'T'},\n", - " {'variant_id': 'rs2237562', 'gene': 'GRM3', 'allele': 'C'},\n", - " {'variant_id': 'rs6947784', 'gene': 'GRM3', 'allele': 'C'},\n", - " {'variant_id': 'rs2237558', 'gene': 'GRM3', 'allele': 'A'},\n", - " {'variant_id': 'rs2282966', 'gene': 'GRM3', 'allele': 'A'},\n", - " {'variant_id': 'rs1989796', 'gene': 'GRM3', 'allele': 'C'},\n", - " {'variant_id': 'rs17160170', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs7789655', 'gene': 'GRM3', 'allele': 'G'}],\n", - " 'PMC1275610': [{'variant_id': 'rs3788853', 'gene': 'XPNPEP2', 'allele': 'A'}],\n", - " 'PMC6168379': [{'variant_id': 'rs3734704', 'gene': 'HSP90AB1', 'allele': 'C'},\n", - " {'variant_id': 'rs6929249', 'gene': 'HSP90AB1', 'allele': 'G'},\n", - " {'variant_id': 'rs9381299', 'gene': 'PRKCA', 'allele': 'C'},\n", - " {'variant_id': 'rs834576', 'gene': 'HSP90AB1', 'allele': 'A'}],\n", - " 'PMC2875867': [{'variant_id': 'rs28399499', 'gene': 'CYP2B6', 'allele': 'CT'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'TT'},\n", - " {'variant_id': 'rs28365062', 'gene': 'UGT2B7', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs28399454', 'gene': 'CYP2A6', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs8192726', 'gene': 'CYP2A6', 'allele': 'AC + CC'},\n", - " {'variant_id': 'rs7439366', 'gene': 'UGT2B7', 'allele': 'CC + CT'}],\n", - " 'PMC8175348': [{'variant_id': 'rs116982346', 'gene': 'TRAT1', 'allele': 'C'},\n", - " {'variant_id': 'rs11753309', 'gene': 'HLA-B', 'allele': 'A'},\n", - " {'variant_id': 'rs377360', 'gene': 'TRAC', 'allele': 'A'},\n", - " {'variant_id': 'rs73482673', 'gene': 'ELAVL2', 'allele': 'A'}],\n", - " 'PMC2917014': [{'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'CC'},\n", - " {'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'CT'}],\n", - " 'PMC3245349': [{'variant_id': 'rs1789891', 'gene': 'ADH1B', 'allele': 'A'}],\n", - " 'PMC5263176': [{'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'T'}],\n", - " 'PMC2902654': [{'variant_id': 'rs2245964', 'gene': 'FGFBP1', 'allele': 'CC'},\n", - " {'variant_id': 'rs16892645', 'gene': 'FGFBP1', 'allele': 'TT'}],\n", - " 'PMC4048019': [{'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'TT'}],\n", - " 'PMC3966292': [{'variant_id': 'rs2824292', 'gene': None, 'allele': 'G'}],\n", - " 'PMC3248052': [{'variant_id': 'rs10912675', 'gene': 'FMO1', 'allele': 'C'},\n", - " {'variant_id': 'rs7877', 'gene': 'FMO1', 'allele': 'T'}],\n", - " 'PMC4852013': [{'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'T'},\n", - " {'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'T'}],\n", - " 'PMC3000799': [{'variant_id': 'rs4958381', 'gene': 'GRIA1', 'allele': 'T'}],\n", - " 'PMC11382849': [{'variant_id': 'rs743572',\n", - " 'gene': 'CYP17A1',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'AA + AG'}],\n", - " 'PMC4547828': [{'variant_id': 'rs12457042',\n", - " 'gene': 'TNFRSF11A',\n", - " 'allele': 'T'},\n", - " {'variant_id': 'rs2073618', 'gene': 'TNFRSF11B', 'allele': 'CC'},\n", - " {'variant_id': 'rs7237982', 'gene': 'TNFRSF11A', 'allele': 'G'},\n", - " {'variant_id': 'rs4941129', 'gene': 'TNFRSF11A', 'allele': 'T'},\n", - " {'variant_id': 'rs2073618', 'gene': 'TNFRSF11B', 'allele': 'CC'},\n", - " {'variant_id': 'rs7984870', 'gene': 'TNFSF11', 'allele': 'CC'},\n", - " {'variant_id': 'rs7984870', 'gene': 'TNFSF11', 'allele': 'CC'},\n", - " {'variant_id': 'rs11573856', 'gene': 'TNFRSF11B', 'allele': 'T'},\n", - " {'variant_id': 'rs3102728', 'gene': 'TNFRSF11B', 'allele': 'C'},\n", - " {'variant_id': 'rs3134068', 'gene': 'TNFRSF11B', 'allele': 'C'},\n", - " {'variant_id': 'rs1485288', 'gene': 'TNFRSF11B', 'allele': 'C'},\n", - " {'variant_id': 'rs313458', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs6567270', 'gene': 'TNFRSF11A', 'allele': 'A'},\n", - " {'variant_id': 'rs12455775', 'gene': 'TNFRSF11A', 'allele': 'G'},\n", - " {'variant_id': 'rs11877530', 'gene': 'TNFRSF11A', 'allele': 'A'},\n", - " {'variant_id': 'rs11664594', 'gene': 'TNFRSF11A', 'allele': 'T'},\n", - " {'variant_id': 'rs4369774', 'gene': 'TNFRSF11A', 'allele': 'C'},\n", - " {'variant_id': 'rs12956925', 'gene': 'TNFRSF11A', 'allele': 'A'},\n", - " {'variant_id': 'rs12969154', 'gene': 'TNFRSF11A', 'allele': 'A'},\n", - " {'variant_id': 'rs7239621', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs1485286', 'gene': 'TNFRSF11B', 'allele': 'T'},\n", - " {'variant_id': 'rs3102724', 'gene': 'TNFRSF11B', 'allele': 'A'},\n", - " {'variant_id': 'rs2277438', 'gene': 'TNFSF11', 'allele': 'A'},\n", - " {'variant_id': 'rs9566990', 'gene': 'TNFSF11', 'allele': 'G'},\n", - " {'variant_id': 'rs9533166', 'gene': 'TNFSF11', 'allele': 'C'},\n", - " {'variant_id': 'rs9594782', 'gene': 'TNFSF11', 'allele': 'C'},\n", - " {'variant_id': 'rs6567276', 'gene': 'TNFRSF11A', 'allele': 'C'},\n", - " {'variant_id': 'rs9646629', 'gene': 'TNFRSF11A', 'allele': 'G'},\n", - " {'variant_id': 'rs430363', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs4941131', 'gene': 'TNFRSF11A', 'allele': 'C'},\n", - " {'variant_id': 'rs7239667', 'gene': 'TNFRSF11A', 'allele': 'C'}],\n", - " 'PMC3798385': [{'variant_id': 'rs139887', 'gene': 'SOX10', 'allele': 'CG'},\n", - " {'variant_id': 'rs544093', 'gene': 'OPRM1', 'allele': 'GG'},\n", - " {'variant_id': 'rs2849380', 'gene': 'BCL2', 'allele': 'TT'},\n", - " {'variant_id': 'rs544093', 'gene': 'OPRM1', 'allele': 'TT'},\n", - " {'variant_id': 'rs879207', 'gene': None, 'allele': 'AG'},\n", - " {'variant_id': 'rs139887', 'gene': 'SOX10', 'allele': 'CC'},\n", - " {'variant_id': 'rs2849380', 'gene': 'BCL2', 'allele': 'CC'},\n", - " {'variant_id': 'rs879207', 'gene': None, 'allele': 'AA'}],\n", - " 'PMC3353487': [{'variant_id': 'rs2306283', 'gene': 'SLCO1B1', 'allele': 'G'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'C'}],\n", - " 'PMC3074105': [{'variant_id': 'rs5442', 'gene': 'GNB3, USP5', 'allele': 'AA'},\n", - " {'variant_id': 'rs5442', 'gene': 'GNB3, USP5', 'allele': 'AA'},\n", - " {'variant_id': 'rs5443', 'gene': 'GNB3', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs5443', 'gene': 'GNB3', 'allele': 'CT + TT'}],\n", - " 'PMC7423195': [{'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GG'},\n", - " {'variant_id': 'rs2622604', 'gene': 'ABCG2', 'allele': 'TT'},\n", - " {'variant_id': 'rs2622604', 'gene': 'ABCG2', 'allele': 'TT'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GG'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GG'},\n", - " {'variant_id': 'rs2622604', 'gene': 'ABCG2', 'allele': 'TT'},\n", - " {'variant_id': 'rs2231142', 'gene': 'ABCG2', 'allele': 'GG'},\n", - " {'variant_id': 'rs2622604', 'gene': 'ABCG2', 'allele': 'TT'}],\n", - " 'PMC10139129': [{'variant_id': 'rs2249015', 'gene': 'ENPP2', 'allele': 'AA'},\n", - " {'variant_id': 'rs7832704', 'gene': 'ENPP2', 'allele': 'AA'},\n", - " {'variant_id': 'rs2249015', 'gene': 'ENPP2', 'allele': 'AA'},\n", - " {'variant_id': 'rs7832704', 'gene': 'ENPP2', 'allele': 'A'}],\n", - " 'PMC2679106': [{'variant_id': 'rs8192726',\n", - " 'gene': 'CYP2A6',\n", - " 'allele': 'AC + CC'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'TT'},\n", - " {'variant_id': 'rs28399454', 'gene': 'CYP2A6', 'allele': 'TT'},\n", - " {'variant_id': 'rs28399499', 'gene': 'CYP2B6', 'allele': 'CT'}],\n", - " 'PMC8042025': [{'variant_id': 'rs113332494',\n", - " 'gene': 'HLA-DQB1',\n", - " 'allele': 'G'},\n", - " {'variant_id': 'rs113332494', 'gene': 'HLA-DQB1', 'allele': 'G'}],\n", - " 'PMC3960598': [{'variant_id': 'rs4680', 'gene': None, 'allele': 'GG'},\n", - " {'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'AG'}],\n", - " 'PMC5812637': [{'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'AA'}],\n", - " 'PMC6777606': [{'variant_id': 'rs679899', 'gene': 'APOB', 'allele': 'G'},\n", - " {'variant_id': 'rs1367117', 'gene': 'APOB', 'allele': 'G'},\n", - " {'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'A'},\n", - " {'variant_id': 'rs429358', 'gene': 'APOC1, APOE', 'allele': 'C'},\n", - " {'variant_id': 'rs7412', 'gene': 'APOC1, APOE', 'allele': 'T'},\n", - " {'variant_id': 'rs693', 'gene': 'APOB', 'allele': 'A'},\n", - " {'variant_id': 'rs405509', 'gene': 'APOE', 'allele': 'G'},\n", - " {'variant_id': 'rs769450', 'gene': 'APOE', 'allele': 'A'},\n", - " {'variant_id': 'rs439401', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs1057910', 'gene': 'CYP2C9', 'allele': 'C'},\n", - " {'variant_id': 'rs13306194', 'gene': 'APOB', 'allele': 'A'},\n", - " {'variant_id': 'rs1042034', 'gene': 'APOB', 'allele': 'T'}],\n", - " 'PMC5846189': [{'variant_id': 'rs712829', 'gene': 'EGFR', 'allele': 'GG'},\n", - " {'variant_id': 'rs2622604', 'gene': 'ABCG2', 'allele': 'CC'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'C'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'C'},\n", - " {'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'TT'}],\n", - " 'PMC5534361': [{'variant_id': 'rs1803274', 'gene': 'BCHE', 'allele': 'T'}],\n", - " 'PMC4982803': [{'variant_id': 'rs1061781',\n", - " 'gene': 'B4GALT2',\n", - " 'allele': 'CT + TT'}],\n", - " 'PMC3831180': [{'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'C'},\n", - " {'variant_id': 'rs4693075', 'gene': 'COQ2', 'allele': 'C'}],\n", - " 'PMC5157199': [{'variant_id': 'rs113488022',\n", - " 'gene': 'BRAF',\n", - " 'allele': 'AT + TT'}],\n", - " 'PMC2686874': [{'variant_id': 'rs28933396', 'gene': 'RYR1', 'allele': 'A'}],\n", - " 'PMC2587308': [{'variant_id': 'rs4713916', 'gene': 'FKBP5', 'allele': 'A'}],\n", - " 'PMC3514624': [{'variant_id': 'rs1611115', 'gene': 'DBH', 'allele': 'CC'}],\n", - " 'PMC3505921': [{'variant_id': 'rs1051266',\n", - " 'gene': 'SLC19A1',\n", - " 'allele': 'CC + TT'},\n", - " {'variant_id': 'rs1051266', 'gene': 'SLC19A1', 'allele': 'TT'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'AA'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'GG'},\n", - " {'variant_id': 'rs1051266', 'gene': 'SLC19A1', 'allele': 'CC'}],\n", - " 'PMC7390973': [{'variant_id': 'rs12979860',\n", - " 'gene': 'IFNL3, IFNL4',\n", - " 'allele': 'CT + TT'}],\n", - " 'PMC4339275': [{'variant_id': 'rs1799853', 'gene': 'CYP2C9', 'allele': 'TT'},\n", - " {'variant_id': 'rs1057910', 'gene': 'CYP2C9', 'allele': 'AC'}],\n", - " 'PMC3383117': [{'variant_id': 'rs1056892', 'gene': 'CBR3', 'allele': 'GG'},\n", - " {'variant_id': 'rs9024', 'gene': 'CBR1', 'allele': 'GG'}],\n", - " 'PMC3912740': [{'variant_id': 'rs9922316', 'gene': 'PRKCB', 'allele': 'T'}],\n", - " 'PMC7266722': [{'variant_id': 'rs2395029', 'gene': 'HCP5', 'allele': 'T'},\n", - " {'variant_id': 'rs1229984', 'gene': 'ADH1B', 'allele': 'T'},\n", - " {'variant_id': 'rs698', 'gene': 'ADH1C', 'allele': 'C'},\n", - " {'variant_id': 'rs1800750', 'gene': 'TNF', 'allele': 'AG'},\n", - " {'variant_id': 'rs2227956', 'gene': 'HSPA1A, HSPA1L, LSM2', 'allele': 'A'},\n", - " {'variant_id': 'rs361525', 'gene': 'TNF', 'allele': 'A'}],\n", - " 'PMC6202211': [{'variant_id': 'rs10455872', 'gene': 'LPA', 'allele': 'G'}],\n", - " 'PMC4077354': [{'variant_id': 'rs118192172', 'gene': 'RYR1', 'allele': 'T'}],\n", - " 'PMC2920359': [{'variant_id': 'rs1799732', 'gene': 'DRD2', 'allele': 'del'}],\n", - " 'PMC10520058': [{'variant_id': 'rs4149056',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs2306283', 'gene': 'SLCO1B1', 'allele': 'GG'},\n", - " {'variant_id': 'rs3842', 'gene': 'ABCB1', 'allele': 'CC'},\n", - " {'variant_id': 'rs999278', 'gene': 'SLCO1B1', 'allele': 'AA + AC'},\n", - " {'variant_id': 'rs4149057', 'gene': 'SLCO1B1', 'allele': 'CC + CT'}],\n", - " 'PMC2876136': [{'variant_id': 'rs5030868',\n", - " 'gene': 'G6PD, IKBKG',\n", - " 'allele': 'A'}],\n", - " 'PMC10625179': [{'variant_id': 'rs6766410', 'gene': 'HTR3C', 'allele': 'CC'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'TT'},\n", - " {'variant_id': 'rs7943062', 'gene': 'HTR3B', 'allele': 'GG'}],\n", - " 'PMC7409770': [{'variant_id': 'rs62103056', 'gene': None, 'allele': 'A'}],\n", - " 'PMC3787837': [{'variant_id': 'rs2484516', 'gene': 'ADRA2A', 'allele': 'G'}],\n", - " 'PMC5945500': [{'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'C'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'G'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'C'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'T'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'G'}],\n", - " 'PMC5669583': [{'variant_id': 'rs34550074',\n", - " 'gene': 'SLCO2A1',\n", - " 'allele': 'T'}],\n", - " 'PMC3549321': [{'variant_id': 'rs1695',\n", - " 'gene': 'GSTP1',\n", - " 'allele': 'AG + GG'}],\n", - " 'PMC5300764': [{'variant_id': 'rs11676382', 'gene': 'GGCX', 'allele': 'G'},\n", - " {'variant_id': 'rs699664', 'gene': 'GGCX', 'allele': 'C'},\n", - " {'variant_id': 'rs11676382', 'gene': 'GGCX', 'allele': 'G'},\n", - " {'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'CT + TT'}],\n", - " 'PMC9031832': [{'variant_id': 'rs1800497', 'gene': 'DRD2', 'allele': 'A'},\n", - " {'variant_id': 'rs1076560', 'gene': 'DRD2', 'allele': 'A'},\n", - " {'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'A'}],\n", - " 'PMC1820604': [{'variant_id': 'rs1050828', 'gene': 'G6PD', 'allele': 'T'},\n", - " {'variant_id': 'rs1050828', 'gene': 'G6PD', 'allele': 'CT + TT'}],\n", - " 'PMC10702074': [{'variant_id': 'rs6025', 'gene': 'F5', 'allele': 'C'},\n", - " {'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'G'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'G'},\n", - " {'variant_id': 'rs2227631', 'gene': 'SERPINE1', 'allele': 'A'}],\n", - " 'PMC8973308': [{'variant_id': 'rs116855232',\n", - " 'gene': 'NUDT15',\n", - " 'allele': 'CT'},\n", - " {'variant_id': 'rs1800460', 'gene': 'TPMT', 'allele': 'CT'},\n", - " {'variant_id': 'rs1800462', 'gene': 'TPMT', 'allele': 'CG'}],\n", - " 'PMC4624261': [{'variant_id': 'rs7950311', 'gene': 'TRIM5', 'allele': 'C'},\n", - " {'variant_id': 'rs6674079', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs2549714', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs4910232', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs3795247', 'gene': 'ZNF100', 'allele': 'C'}],\n", - " 'PMC4859410': [{'variant_id': 'rs4149056',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': 'CC'}],\n", - " 'PMC2831569': [{'variant_id': 'rs3856806', 'gene': 'PPARG', 'allele': 'TT'},\n", - " {'variant_id': 'rs3856806', 'gene': 'PPARG', 'allele': 'TT'}],\n", - " 'PMC4990373': [{'variant_id': 'rs1934951', 'gene': 'CYP2C8', 'allele': 'CC'},\n", - " {'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'CC'},\n", - " {'variant_id': 'rs13181', 'gene': 'ERCC2', 'allele': 'TT'},\n", - " {'variant_id': 'rs3212935', 'gene': 'ERCC1', 'allele': 'TT'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1042522', 'gene': 'TP53', 'allele': 'CC'},\n", - " {'variant_id': 'rs1136201', 'gene': 'ERBB2', 'allele': 'AA'},\n", - " {'variant_id': 'rs1042522', 'gene': 'TP53', 'allele': 'CC'},\n", - " {'variant_id': 'rs351855', 'gene': 'FGFR4', 'allele': 'AA'},\n", - " {'variant_id': 'rs351855', 'gene': 'FGFR4', 'allele': 'AA'},\n", - " {'variant_id': 'rs3212935', 'gene': 'ERCC1', 'allele': 'TT'},\n", - " {'variant_id': 'rs13181', 'gene': 'ERCC2', 'allele': 'TT'},\n", - " {'variant_id': 'rs1136201', 'gene': 'ERBB2', 'allele': 'AA'},\n", - " {'variant_id': 'rs2740574', 'gene': 'CYP3A4', 'allele': 'CC'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1934951', 'gene': 'CYP2C8', 'allele': 'CC'}],\n", - " 'PMC11318817': [{'variant_id': 'rs1045642',\n", - " 'gene': 'ABCB1',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA + AG'}],\n", - " 'PMC8602039': [{'variant_id': 'rs74569896', 'gene': 'NECAB1', 'allele': 'G'},\n", - " {'variant_id': 'rs4736529', 'gene': 'EFR3A', 'allele': 'G'},\n", - " {'variant_id': 'rs11640115', 'gene': 'WDR24', 'allele': 'G'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'T'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'A'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'A'},\n", - " {'variant_id': 'rs1057910', 'gene': 'CYP2C9', 'allele': 'C'},\n", - " {'variant_id': 'rs4986893', 'gene': 'CYP2C19', 'allele': 'A'},\n", - " {'variant_id': 'rs201441480', 'gene': 'KRTAP10-4, TSPEAR', 'allele': 'A'},\n", - " {'variant_id': 'rs140410716', 'gene': 'ECHS1', 'allele': 'T'},\n", - " {'variant_id': 'rs75750968', 'gene': 'AGAP3', 'allele': 'A'},\n", - " {'variant_id': 'rs3749187', 'gene': 'ZDHHC3', 'allele': 'A'},\n", - " {'variant_id': 'rs17064642', 'gene': 'MYOM2', 'allele': 'CC + CT'}],\n", - " 'PMC6714673': [{'variant_id': 'rs1057910', 'gene': 'CYP2C9', 'allele': 'AC'},\n", - " {'variant_id': 'rs1799853', 'gene': 'CYP2C9', 'allele': 'CT'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'},\n", - " {'variant_id': 'rs1043550', 'gene': 'CALU', 'allele': 'G'},\n", - " {'variant_id': 'rs12714145', 'gene': 'GGCX', 'allele': 'T'},\n", - " {'variant_id': 'rs1051740', 'gene': 'EPHX1', 'allele': 'C'},\n", - " {'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'T'},\n", - " {'variant_id': 'rs6046', 'gene': 'F7', 'allele': 'A'},\n", - " {'variant_id': 'rs11676382', 'gene': 'GGCX', 'allele': 'G'},\n", - " {'variant_id': 'rs699664', 'gene': 'GGCX', 'allele': 'T'},\n", - " {'variant_id': 'rs1799853', 'gene': 'CYP2C9', 'allele': 'T'},\n", - " {'variant_id': 'rs1057910', 'gene': 'CYP2C9', 'allele': 'C'},\n", - " {'variant_id': 'rs11676382', 'gene': 'GGCX', 'allele': 'G'},\n", - " {'variant_id': 'rs6046', 'gene': 'F7', 'allele': 'A'},\n", - " {'variant_id': 'rs2108622', 'gene': 'CYP4F2', 'allele': 'T'},\n", - " {'variant_id': 'rs699664', 'gene': 'GGCX', 'allele': 'T'},\n", - " {'variant_id': 'rs1043550', 'gene': 'CALU', 'allele': 'G'},\n", - " {'variant_id': 'rs12714145', 'gene': 'GGCX', 'allele': 'T'},\n", - " {'variant_id': 'rs1051740', 'gene': 'EPHX1', 'allele': 'C'},\n", - " {'variant_id': 'rs9923231', 'gene': 'VKORC1', 'allele': 'T'}],\n", - " 'PMC11509751': [{'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'TT'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs4148738', 'gene': 'ABCB1', 'allele': 'T'},\n", - " {'variant_id': 'rs4148738', 'gene': 'ABCB1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'AA + AC'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs776746', 'gene': 'CYP3A5', 'allele': 'CC'}],\n", - " 'PMC4110714': [{'variant_id': 'rs10455872',\n", - " 'gene': 'LPA',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs10455872', 'gene': 'LPA', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs10455872', 'gene': 'LPA', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs10455872', 'gene': 'LPA', 'allele': 'AG + GG'}],\n", - " 'PMC2364178': [{'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC4633171': [{'variant_id': 'rs717620',\n", - " 'gene': 'ABCC2',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'C'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'T'}],\n", - " 'PMC10526923': [{'variant_id': 'rs2238476', 'gene': 'ABCC1', 'allele': 'AG'},\n", - " {'variant_id': 'rs3761548', 'gene': 'FOXP3', 'allele': 'GT'},\n", - " {'variant_id': 'rs13120400', 'gene': 'ABCG2', 'allele': 'CT + TT'}],\n", - " 'PMC2988112': [{'variant_id': 'rs2762939', 'gene': 'CYP24A1', 'allele': 'C'}],\n", - " 'PMC2933242': [{'variant_id': 'rs135561',\n", - " 'gene': 'PPARA',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC549606': [{'variant_id': 'rs121434569', 'gene': 'EGFR', 'allele': 'T'}],\n", - " 'PMC3620714': [{'variant_id': 'rs35599367',\n", - " 'gene': 'CYP3A4',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC9529953': [{'variant_id': 'rs74418677', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs912571', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs79048288', 'gene': 'CCDC148', 'allele': 'T'},\n", - " {'variant_id': 'rs1324052', 'gene': None, 'allele': 'A'}],\n", - " 'PMC4898266': [{'variant_id': 'rs2291075',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': 'CT + TT'}],\n", - " 'PMC3380161': [{'variant_id': 'rs1126742',\n", - " 'gene': 'CYP4A11',\n", - " 'allele': 'AG + GG'}],\n", - " 'PMC3841971': [{'variant_id': 'rs2307441', 'gene': 'POLG', 'allele': 'C'},\n", - " {'variant_id': 'rs3087374', 'gene': 'POLG', 'allele': 'A'}],\n", - " 'PMC3248744': [{'variant_id': 'rs35599367',\n", - " 'gene': 'CYP3A4',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC5817388': [{'variant_id': 'rs648743', 'gene': 'CTH', 'allele': 'TT'},\n", - " {'variant_id': 'rs1021737', 'gene': 'CTH', 'allele': 'TT'},\n", - " {'variant_id': 'rs1021737', 'gene': 'CTH', 'allele': 'TT'},\n", - " {'variant_id': 'rs648743', 'gene': 'CTH', 'allele': 'TT'}],\n", - " 'PMC4999819': [{'variant_id': 'rs5888', 'gene': 'SCARB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs10846744', 'gene': 'SCARB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs3782287', 'gene': 'SCARB1', 'allele': 'GG'},\n", - " {'variant_id': 'rs8099917', 'gene': 'IFNL3, IFNL4', 'allele': 'TT'}],\n", - " 'PMC7446391': [{'variant_id': 'rs755416212', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC1734304': [{'variant_id': 'rs28933397', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs118192122', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs121918592', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs193922772', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs118192172', 'gene': 'RYR1', 'allele': 'T'}],\n", - " 'PMC3987224': [{'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'T'}],\n", - " 'PMC9028965': [{'variant_id': 'rs10515807', 'gene': 'ADRA1B', 'allele': 'G'},\n", - " {'variant_id': 'rs553668', 'gene': 'ADRA2A', 'allele': 'G'},\n", - " {'variant_id': 'rs521674', 'gene': 'ADRA2A', 'allele': 'T'},\n", - " {'variant_id': 'rs10515807', 'gene': 'ADRA1B', 'allele': 'A'}],\n", - " 'PMC5137276': [{'variant_id': 'rs1867283', 'gene': 'NTRK2', 'allele': 'A'},\n", - " {'variant_id': 'rs1187286', 'gene': 'NTRK2', 'allele': 'G'},\n", - " {'variant_id': 'rs962369', 'gene': 'BDNF', 'allele': 'C'},\n", - " {'variant_id': 'rs1387923', 'gene': 'NTRK2', 'allele': 'A'},\n", - " {'variant_id': 'rs11140800', 'gene': 'NTRK2', 'allele': 'C'},\n", - " {'variant_id': 'rs10868235', 'gene': 'NTRK2', 'allele': 'C'},\n", - " {'variant_id': 'rs1360550', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs6265', 'gene': 'BDNF', 'allele': 'C'},\n", - " {'variant_id': 'rs2072446', 'gene': 'NGFR', 'allele': 'C'},\n", - " {'variant_id': 'rs2551919', 'gene': 'CREB1', 'allele': 'C'},\n", - " {'variant_id': 'rs1439050', 'gene': 'NTRK2', 'allele': 'G'},\n", - " {'variant_id': 'rs4675690', 'gene': 'CREB1', 'allele': 'C'},\n", - " {'variant_id': 'rs1147198', 'gene': 'NTRK2', 'allele': 'G'}],\n", - " 'PMC3657875': [{'variant_id': 'rs1801265', 'gene': 'DPYD', 'allele': 'G'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'T'}],\n", - " 'PMC3629689': [{'variant_id': 'rs7900194', 'gene': 'CYP2C9', 'allele': 'A'},\n", - " {'variant_id': 'rs7900194', 'gene': 'CYP2C9', 'allele': 'A'},\n", - " {'variant_id': 'rs9332094', 'gene': 'CYP2C9', 'allele': 'C'},\n", - " {'variant_id': 'rs4918758', 'gene': 'CYP2C9', 'allele': 'C'}],\n", - " 'PMC5652844': [{'variant_id': 'rs2290344', 'gene': 'PIGB', 'allele': 'C'},\n", - " {'variant_id': 'rs2290344', 'gene': 'PIGB', 'allele': 'C'},\n", - " {'variant_id': 'rs2290344', 'gene': 'PIGB', 'allele': 'C'},\n", - " {'variant_id': 'rs8024695', 'gene': 'PIGB', 'allele': 'C'},\n", - " {'variant_id': 'rs12050885', 'gene': 'RAB27A', 'allele': 'G'},\n", - " {'variant_id': 'rs12050885', 'gene': 'RAB27A', 'allele': 'G'},\n", - " {'variant_id': 'rs4896870', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs4896870', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs8024695', 'gene': 'PIGB', 'allele': 'C'},\n", - " {'variant_id': 'rs2607659', 'gene': 'RRM2B', 'allele': 'C'},\n", - " {'variant_id': 'rs2607659', 'gene': 'RRM2B', 'allele': 'C'},\n", - " {'variant_id': 'rs2595500', 'gene': 'ZNF215', 'allele': 'G'},\n", - " {'variant_id': 'rs12050587', 'gene': 'PIGB', 'allele': 'G'},\n", - " {'variant_id': 'rs12050587', 'gene': 'PIGB', 'allele': 'G'},\n", - " {'variant_id': 'rs11636687', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs11636687', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs4261468', 'gene': 'RAB27A', 'allele': 'G'},\n", - " {'variant_id': 'rs4261468', 'gene': 'RAB27A', 'allele': 'G'},\n", - " {'variant_id': 'rs9514827', 'gene': 'TNFSF13B', 'allele': 'C'},\n", - " {'variant_id': 'rs9514827', 'gene': 'TNFSF13B', 'allele': 'C'}],\n", - " 'PMC10912014': [{'variant_id': 'rs1478947',\n", - " 'gene': None,\n", - " 'allele': 'CT + TT'}],\n", - " 'PMC2874659': [{'variant_id': 'rs267606617',\n", - " 'gene': 'MT-RNR1',\n", - " 'allele': 'G'},\n", - " {'variant_id': 'rs267606619', 'gene': 'MT-RNR1', 'allele': 'T'}],\n", - " 'PMC1484504': [{'variant_id': 'rs267606617',\n", - " 'gene': 'MT-RNR1',\n", - " 'allele': 'G'},\n", - " {'variant_id': 'rs267606618', 'gene': 'MT-RNR1', 'allele': 'C'}],\n", - " 'PMC11035779': [{'variant_id': 'rs28929474',\n", - " 'gene': 'SERPINA1',\n", - " 'allele': 'T'}],\n", - " 'PMC4024959': [{'variant_id': 'rs1927911',\n", - " 'gene': 'TLR4',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC3579261': [{'variant_id': 'rs17868320', 'gene': 'UGT1A9', 'allele': 'CC'},\n", - " {'variant_id': 'rs6714486', 'gene': 'UGT1A9', 'allele': 'AA'},\n", - " {'variant_id': 'rs10187694', 'gene': 'UGT1A10', 'allele': 'GG'},\n", - " {'variant_id': 'rs17863762', 'gene': 'UGT1A8', 'allele': 'GG'},\n", - " {'variant_id': 'rs1042597', 'gene': 'UGT1A8', 'allele': 'CC'},\n", - " {'variant_id': 'rs3740066', 'gene': 'ABCC2', 'allele': 'CC'},\n", - " {'variant_id': 'rs7439366', 'gene': 'UGT2B7', 'allele': 'CC'},\n", - " {'variant_id': 'rs717620', 'gene': 'ABCC2', 'allele': 'CC'},\n", - " {'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'GG'}],\n", - " 'PMC3556904': [{'variant_id': 'rs5996696',\n", - " 'gene': 'ADORA2A',\n", - " 'allele': 'AC + CC'},\n", - " {'variant_id': 'rs71651683', 'gene': 'ADORA2A', 'allele': 'CT'},\n", - " {'variant_id': 'rs762551', 'gene': 'CYP1A2', 'allele': 'CC'},\n", - " {'variant_id': 'rs2470890', 'gene': 'CYP1A2', 'allele': 'CC'},\n", - " {'variant_id': 'rs2472304', 'gene': 'CYP1A2', 'allele': 'GG'}],\n", - " 'PMC7197559': [{'variant_id': 'rs12252', 'gene': 'IFITM3', 'allele': 'GG'}],\n", - " 'PMC5574174': [{'variant_id': 'rs3793790', 'gene': 'CHAT', 'allele': 'G'},\n", - " {'variant_id': 'rs11101191', 'gene': 'CHAT', 'allele': 'C'},\n", - " {'variant_id': 'rs867687', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs4838547', 'gene': 'CHAT', 'allele': 'C'}],\n", - " 'PMC6360833': [{'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'T'}],\n", - " 'PMC6198009': [{'variant_id': 'rs1042713', 'gene': 'ADRB2', 'allele': 'AA'},\n", - " {'variant_id': 'rs1042714', 'gene': 'ADRB2', 'allele': 'CG + GG'},\n", - " {'variant_id': 'rs2230349', 'gene': 'GRK5', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs2230345', 'gene': 'GRK5', 'allele': 'AA'},\n", - " {'variant_id': 'rs1042713', 'gene': 'ADRB2', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1042713', 'gene': 'ADRB2', 'allele': 'G'}],\n", - " 'PMC3555060': [{'variant_id': 'rs9934438', 'gene': 'VKORC1', 'allele': 'AA'}],\n", - " 'PMC1716149': [{'variant_id': 'rs1800559', 'gene': 'CACNA1S', 'allele': 'T'}],\n", - " 'PMC4137825': [{'variant_id': 'rs2273697', 'gene': 'ABCC2', 'allele': 'AA'},\n", - " {'variant_id': 'rs3740066', 'gene': 'ABCC2', 'allele': 'TT'},\n", - " {'variant_id': 'rs717620', 'gene': 'ABCC2', 'allele': 'TT'}],\n", - " 'PMC507468': [{'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC2759850': [{'variant_id': 'rs2072661', 'gene': 'CHRNB2', 'allele': 'GG'}],\n", - " 'PMC1376943': [{'variant_id': 'rs118192177', 'gene': 'RYR1', 'allele': 'CT'},\n", - " {'variant_id': 'rs118192175', 'gene': 'RYR1', 'allele': 'CT'},\n", - " {'variant_id': 'rs118192163', 'gene': 'RYR1', 'allele': 'AG'},\n", - " {'variant_id': 'rs118192176', 'gene': 'RYR1', 'allele': 'AG'},\n", - " {'variant_id': 'rs118192172', 'gene': 'RYR1', 'allele': 'CT'},\n", - " {'variant_id': 'rs193922772', 'gene': 'RYR1', 'allele': 'GT'},\n", - " {'variant_id': 'rs118192175', 'gene': 'RYR1', 'allele': 'CT'},\n", - " {'variant_id': 'rs118192176', 'gene': 'RYR1', 'allele': 'AG'},\n", - " {'variant_id': 'rs28933397', 'gene': 'RYR1', 'allele': 'CT'},\n", - " {'variant_id': 'rs118192177', 'gene': 'RYR1', 'allele': 'CT'},\n", - " {'variant_id': 'rs193922747', 'gene': 'RYR1', 'allele': 'CT'},\n", - " {'variant_id': 'rs118192161', 'gene': 'RYR1', 'allele': 'CT'},\n", - " {'variant_id': 'rs121918592', 'gene': 'RYR1', 'allele': 'AG'},\n", - " {'variant_id': 'rs193922770', 'gene': 'RYR1', 'allele': 'CT'}],\n", - " 'PMC3867542': [{'variant_id': 'rs1042114', 'gene': 'OPRD1', 'allele': 'G'},\n", - " {'variant_id': 'rs2236861', 'gene': 'OPRD1', 'allele': 'A'},\n", - " {'variant_id': 'rs569356', 'gene': 'OPRD1', 'allele': 'G'},\n", - " {'variant_id': 'rs529520', 'gene': 'OPRD1', 'allele': 'A'},\n", - " {'variant_id': 'rs581111', 'gene': 'OPRD1', 'allele': 'A'},\n", - " {'variant_id': 'rs680090', 'gene': 'OPRD1', 'allele': 'A'},\n", - " {'variant_id': 'rs12749204', 'gene': 'OPRD1', 'allele': 'G'},\n", - " {'variant_id': 'rs2298895', 'gene': 'OPRD1', 'allele': 'T'},\n", - " {'variant_id': 'rs508448', 'gene': 'OPRD1', 'allele': 'G'},\n", - " {'variant_id': 'rs4654327', 'gene': 'OPRD1', 'allele': 'G'},\n", - " {'variant_id': 'rs204076', 'gene': 'OPRD1', 'allele': 'T'},\n", - " {'variant_id': 'rs204069', 'gene': 'OPRD1', 'allele': 'A'},\n", - " {'variant_id': 'rs204055', 'gene': 'OPRD1', 'allele': 'T'},\n", - " {'variant_id': 'rs2236857', 'gene': 'OPRD1', 'allele': 'C'},\n", - " {'variant_id': 'rs2236855', 'gene': 'OPRD1', 'allele': 'A'},\n", - " {'variant_id': 'rs2298897', 'gene': 'OPRD1', 'allele': 'C'},\n", - " {'variant_id': 'rs3766951', 'gene': 'OPRD1', 'allele': 'C'},\n", - " {'variant_id': 'rs760589', 'gene': 'OPRD1', 'allele': 'A'},\n", - " {'variant_id': 'rs204047', 'gene': 'OPRD1', 'allele': 'T'},\n", - " {'variant_id': 'rs678849', 'gene': 'OPRD1', 'allele': 'C'},\n", - " {'variant_id': 'rs419335', 'gene': 'OPRD1', 'allele': 'G'}],\n", - " 'PMC4271081': [{'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'AT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs55886062', 'gene': 'DPYD', 'allele': 'AC'},\n", - " {'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'AT'}],\n", - " 'PMC3572125': [{'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs662', 'gene': 'PON1', 'allele': 'CT + TT'}],\n", - " 'PMC4296254': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'}],\n", - " 'PMC3896768': [{'variant_id': 'rs118192172', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs118192176', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs118192177', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs121918593', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs121918592', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs193922748', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs193922807', 'gene': 'RYR1', 'allele': 'C'},\n", - " {'variant_id': 'rs193922802', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs112563513', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs118192122', 'gene': 'RYR1', 'allele': 'A'},\n", - " {'variant_id': 'rs193922816', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs28933397', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs193922772', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs193922764', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs118192124', 'gene': 'RYR1', 'allele': 'T'},\n", - " {'variant_id': 'rs118192168', 'gene': 'RYR1', 'allele': 'A'}],\n", - " 'PMC5432027': [{'variant_id': 'rs1142345', 'gene': 'TPMT', 'allele': 'TT'},\n", - " {'variant_id': 'rs12201199', 'gene': 'TPMT', 'allele': 'AA'},\n", - " {'variant_id': 'rs9332377', 'gene': 'COMT', 'allele': 'CC'},\n", - " {'variant_id': 'rs4646316', 'gene': 'COMT', 'allele': 'CC'},\n", - " {'variant_id': 'rs1800460', 'gene': 'TPMT', 'allele': 'CC'},\n", - " {'variant_id': 'rs1872328', 'gene': 'ACYP2', 'allele': 'AA + AG'}],\n", - " 'PMC4034115': [{'variant_id': 'rs5326', 'gene': 'DRD1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs4867798', 'gene': 'DRD1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs6280', 'gene': 'DRD3', 'allele': 'TT'},\n", - " {'variant_id': 'rs11246226', 'gene': 'DRD4', 'allele': 'AA'},\n", - " {'variant_id': 'rs1800544', 'gene': 'ADRA2A', 'allele': 'CC'},\n", - " {'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs6280', 'gene': 'DRD3', 'allele': 'CT + TT'}],\n", - " 'PMC4131016': [{'variant_id': 'rs9479757', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs9479757', 'gene': 'OPRM1', 'allele': 'GG'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs3798676', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs4870266', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs483481', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs569284', 'gene': 'OPRM1', 'allele': 'C'},\n", - " {'variant_id': 'rs9371776', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs2010884', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs13195018', 'gene': 'OPRM1', 'allele': 'C'},\n", - " {'variant_id': 'rs518596', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs9397687', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs73576470', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs7763748', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs6557337', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs527434', 'gene': 'OPRM1', 'allele': 'C'},\n", - " {'variant_id': 'rs610231', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs9371773', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs9384174', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs2075572', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs3798683', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs632499', 'gene': 'OPRM1', 'allele': 'A'},\n", - " {'variant_id': 'rs9397685', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs3798688', 'gene': 'OPRM1', 'allele': 'T'}],\n", - " 'PMC3242306': [{'variant_id': 'rs1799971',\n", - " 'gene': 'OPRM1',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AG + GG'}],\n", - " 'PMC5464525': [{'variant_id': 'rs142427338',\n", - " 'gene': 'ALDH1B1',\n", - " 'allele': 'T'},\n", - " {'variant_id': 'rs2073478', 'gene': 'ALDH1B1', 'allele': 'G'},\n", - " {'variant_id': 'rs4878199', 'gene': 'ALDH1B1', 'allele': 'G'},\n", - " {'variant_id': 'rs2228093', 'gene': 'ALDH1B1', 'allele': 'T'}],\n", - " 'PMC4900521': [{'variant_id': 'rs4147581', 'gene': 'GSTP1', 'allele': 'GG'},\n", - " {'variant_id': 'rs1695', 'gene': 'GSTP1', 'allele': 'AA'}],\n", - " 'PMC3907445': [{'variant_id': 'rs3787140', 'gene': 'CHRNA4', 'allele': 'CC'},\n", - " {'variant_id': 'rs6090378', 'gene': 'CHRNA4', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs3787138', 'gene': 'CHRNA4', 'allele': 'GG'}],\n", - " 'PMC3940691': [{'variant_id': 'rs4148354',\n", - " 'gene': 'ABCC1',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs2889517', 'gene': 'ABCC1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs11861115', 'gene': 'ABCC1', 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs16967126', 'gene': 'ABCC1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs4148350', 'gene': 'ABCC1', 'allele': 'GT + TT'},\n", - " {'variant_id': 'rs8187996', 'gene': 'ALDH1A1', 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs3764435', 'gene': 'ALDH1A1', 'allele': 'AA + AC'},\n", - " {'variant_id': 'rs63319', 'gene': 'ALDH1A1', 'allele': 'GT + TT'},\n", - " {'variant_id': 'rs35596', 'gene': 'ABCC1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs903880', 'gene': 'ABCC1', 'allele': 'AA + AC'},\n", - " {'variant_id': 'rs3764435', 'gene': 'ALDH1A1', 'allele': 'A'},\n", - " {'variant_id': 'rs168351', 'gene': 'ALDH1A1', 'allele': 'A'}],\n", - " 'PMC3899627': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs3852209', 'gene': 'HINT1', 'allele': 'CC'},\n", - " {'variant_id': 'rs3786047', 'gene': 'ARRB2', 'allele': 'A'},\n", - " {'variant_id': 'rs1045280', 'gene': 'ARRB2', 'allele': 'C'},\n", - " {'variant_id': 'rs2036657', 'gene': 'ARRB2', 'allele': 'G'},\n", - " {'variant_id': 'rs2278060', 'gene': 'HINT1', 'allele': 'C'}],\n", - " 'PMC11139312': [{'variant_id': 'rs2228570', 'gene': 'VDR', 'allele': 'A'},\n", - " {'variant_id': 'rs1544410', 'gene': 'VDR', 'allele': 'CC'}],\n", - " 'PMC11457605': [{'variant_id': 'rs6809699', 'gene': 'P2RY12', 'allele': 'A'},\n", - " {'variant_id': 'rs2046934', 'gene': 'P2RY12', 'allele': 'A'},\n", - " {'variant_id': 'rs6801273', 'gene': 'P2RY12', 'allele': 'TT'}],\n", - " 'PMC11492648': [{'variant_id': 'rs352139',\n", - " 'gene': 'ALAS1',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC6509985': [{'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'AG'}],\n", - " 'PMC11050844': [{'variant_id': 'rs717620', 'gene': 'ABCC2', 'allele': 'C'}],\n", - " 'PMC8238023': [{'variant_id': 'CYP2B6*6',\n", - " 'gene': 'CYP2B6',\n", - " 'allele': '*6/*6'},\n", - " {'variant_id': 'rs1038376', 'gene': 'CYP2B6', 'allele': 'TT'},\n", - " {'variant_id': 'rs2279343', 'gene': 'CYP2B6', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs11882424', 'gene': 'CYP2B6', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs10500282', 'gene': 'CYP2B6', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs4803419', 'gene': 'CYP2B6', 'allele': 'TT'}],\n", - " 'PMC2874321': [{'variant_id': 'rs16969968', 'gene': 'CHRNA5', 'allele': 'A'},\n", - " {'variant_id': 'rs578776', 'gene': 'CHRNA3', 'allele': 'A'}],\n", - " 'PMC5037629': [{'variant_id': 'rs10946739', 'gene': 'RIPOR2', 'allele': 'C'},\n", - " {'variant_id': 'rs393994', 'gene': 'AGBL4', 'allele': 'A'},\n", - " {'variant_id': 'rs320003', 'gene': 'AGBL4', 'allele': 'G'},\n", - " {'variant_id': 'rs7958375', 'gene': 'CUX2', 'allele': 'G'},\n", - " {'variant_id': 'rs10946737', 'gene': 'RIPOR2', 'allele': 'A'},\n", - " {'variant_id': 'rs319952', 'gene': 'AGBL4', 'allele': 'A'}],\n", - " 'PMC3055457': [{'variant_id': 'rs948854', 'gene': 'GAL', 'allele': 'C'},\n", - " {'variant_id': 'rs948854', 'gene': 'GAL', 'allele': 'C'}],\n", - " 'PMC8159730': [{'variant_id': 'rs4149056',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CC + CT'},\n", - " {'variant_id': 'rs2306283', 'gene': 'SLCO1B1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs4149056', 'gene': 'SLCO1B1', 'allele': 'CC + CT'}],\n", - " 'PMC4221198': [{'variant_id': 'rs1047626', 'gene': 'SLC30A9', 'allele': 'A'},\n", - " {'variant_id': 'rs7862221', 'gene': 'TSC1', 'allele': 'C'},\n", - " {'variant_id': 'rs11819745', 'gene': 'THRA', 'allele': 'G'},\n", - " {'variant_id': 'rs3818822', 'gene': 'CHIA', 'allele': 'A'},\n", - " {'variant_id': 'rs1074373', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs3130100', 'gene': 'ZBTB22', 'allele': 'C'},\n", - " {'variant_id': 'rs3097671', 'gene': 'HLA-DPB1', 'allele': 'C'},\n", - " {'variant_id': 'rs3129294', 'gene': 'HLA-DPB2', 'allele': 'C'},\n", - " {'variant_id': 'rs1042151', 'gene': 'HLA-DPB1', 'allele': 'G'},\n", - " {'variant_id': 'rs1042136', 'gene': 'HLA-DPB1', 'allele': 'C'}],\n", - " 'PMC7674154': [{'variant_id': 'rs2253201', 'gene': 'KCNMA1', 'allele': 'G'}],\n", - " 'PMC2799180': [{'variant_id': 'rs7903146', 'gene': 'TCF7L2', 'allele': 'T'}],\n", - " 'PMC3085371': [{'variant_id': 'rs1803274', 'gene': 'BCHE', 'allele': 'T'},\n", - " {'variant_id': 'rs1799807', 'gene': 'BCHE', 'allele': 'C'}],\n", - " 'PMC9875006': [{'variant_id': 'rs3824662', 'gene': 'GATA3', 'allele': 'AA'},\n", - " {'variant_id': 'rs3824662', 'gene': 'GATA3', 'allele': 'AA'}],\n", - " 'PMC4469933': [{'variant_id': 'rs510769', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs510769', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs10485057', 'gene': 'OPRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs10485057', 'gene': 'OPRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs10485057', 'gene': 'OPRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs10485057', 'gene': 'OPRM1', 'allele': 'AA'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs510769', 'gene': 'OPRM1', 'allele': 'T'},\n", - " {'variant_id': 'rs510769', 'gene': 'OPRM1', 'allele': 'T'}],\n", - " 'PMC7485556': [{'variant_id': 'rs2533200', 'gene': 'DPP6', 'allele': 'C'},\n", - " {'variant_id': 'rs7900002', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs2582405', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs56722963', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs576859', 'gene': 'MED19, TMX2', 'allele': 'A'},\n", - " {'variant_id': 'rs6589386', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs13125415', 'gene': 'ADH1C', 'allele': 'A'},\n", - " {'variant_id': 'rs13135092', 'gene': 'SLC39A8', 'allele': 'A'},\n", - " {'variant_id': 'rs1229984', 'gene': 'ADH1B', 'allele': 'T'},\n", - " {'variant_id': 'rs9679319', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs1402398', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs13382553', 'gene': 'THSD7B', 'allele': 'A'},\n", - " {'variant_id': 'rs2673136', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs13129401', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs62250713', 'gene': 'CADM2', 'allele': 'A'},\n", - " {'variant_id': 'rs75967634', 'gene': 'ADH1B', 'allele': 'T'},\n", - " {'variant_id': 'rs6421482', 'gene': 'PDE4B', 'allele': 'A'},\n", - " {'variant_id': 'rs61767420', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs1260326', 'gene': 'GCKR', 'allele': 'T'},\n", - " {'variant_id': 'rs494904', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs492602', 'gene': 'FUT2', 'allele': 'A'},\n", - " {'variant_id': 'rs9937709', 'gene': 'FTO', 'allele': 'A'},\n", - " {'variant_id': 'rs1783835', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs12296477', 'gene': 'SLC4A8', 'allele': 'C'},\n", - " {'variant_id': 'rs61974485', 'gene': 'ARID4A', 'allele': 'T'},\n", - " {'variant_id': 'rs8008020', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs72768626', 'gene': 'TNRC6A', 'allele': 'A'}],\n", - " 'PMC11149109': [{'variant_id': 'rs1883112', 'gene': 'NCF4', 'allele': 'AA'},\n", - " {'variant_id': 'rs1800871', 'gene': 'IL10', 'allele': 'AG + GG'}],\n", - " 'PMC5899062': [{'variant_id': 'rs3828743', 'gene': 'TSPYL1', 'allele': 'A'},\n", - " {'variant_id': 'rs3828743', 'gene': 'TSPYL1', 'allele': 'AA'}],\n", - " 'PMC4462564': [{'variant_id': 'rs1051730', 'gene': 'CHRNA3', 'allele': 'A'},\n", - " {'variant_id': 'rs1051730', 'gene': 'CHRNA3', 'allele': 'A'}],\n", - " 'PMC5541380': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'AG + GG'}],\n", - " 'PMC9450009': [{'variant_id': 'rs4880', 'gene': 'SOD2', 'allele': 'GG'},\n", - " {'variant_id': 'rs4880', 'gene': 'SOD2', 'allele': 'GG'}],\n", - " 'PMC11734037': [{'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'AG'}],\n", - " 'PMC4039076': [{'variant_id': 'rs3824662', 'gene': 'GATA3', 'allele': 'A'},\n", - " {'variant_id': 'rs3824662', 'gene': 'GATA3', 'allele': 'A'}],\n", - " 'PMC5161051': [{'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'}],\n", - " 'PMC8449801': [{'variant_id': 'rs62293499', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs1877193', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs6735923', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs62293499', 'gene': 'CLDN11', 'allele': 'C'},\n", - " {'variant_id': 'rs6735923', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs1877193', 'gene': None, 'allele': 'C'}],\n", - " 'PMC11655210': [{'variant_id': 'rs4294451',\n", - " 'gene': 'DPYD',\n", - " 'allele': 'AT + TT'},\n", - " {'variant_id': 'rs4294451', 'gene': 'DPYD', 'allele': 'AT + TT'}],\n", - " 'PMC3410623': [{'variant_id': 'rs17135437', 'gene': 'COL26A1', 'allele': 'T'},\n", - " {'variant_id': 'rs16965962', 'gene': None, 'allele': 'A'}],\n", - " 'PMC2698708': [{'variant_id': 'rs1042714', 'gene': 'ADRB2', 'allele': 'GG'},\n", - " {'variant_id': 'rs1042714', 'gene': 'ADRB2', 'allele': 'GG'}],\n", - " 'PMC11824427': [{'variant_id': 'rs4982753',\n", - " 'gene': 'SLC22A17',\n", - " 'allele': 'T'},\n", - " {'variant_id': 'rs7319981', 'gene': 'SLC10A2', 'allele': 'A'},\n", - " {'variant_id': 'rs2232228', 'gene': 'HAS3', 'allele': 'A'},\n", - " {'variant_id': 'rs2229774', 'gene': 'RARG', 'allele': 'A'}],\n", - " 'PMC5396392': [{'variant_id': 'rs1800497',\n", - " 'gene': 'ANKK1',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs2283265', 'gene': 'DRD2', 'allele': 'AA + AC'}],\n", - " 'PMC3920286': [{'variant_id': 'rs1045280', 'gene': 'ARRB2', 'allele': 'C'},\n", - " {'variant_id': 'rs2271167', 'gene': 'ARRB2', 'allele': 'A'},\n", - " {'variant_id': 'rs2036657', 'gene': 'ARRB2', 'allele': 'G'},\n", - " {'variant_id': 'rs3786047', 'gene': 'ARRB2', 'allele': 'A'},\n", - " {'variant_id': 'rs4522461', 'gene': 'ARRB2', 'allele': 'T'},\n", - " {'variant_id': 'rs1045280', 'gene': 'ARRB2', 'allele': 'C'},\n", - " {'variant_id': 'rs2271167', 'gene': 'ARRB2', 'allele': 'A'},\n", - " {'variant_id': 'rs2036657', 'gene': 'ARRB2', 'allele': 'G'},\n", - " {'variant_id': 'rs3786047', 'gene': 'ARRB2', 'allele': 'A'},\n", - " {'variant_id': 'rs4522461', 'gene': 'ARRB2', 'allele': 'T'}],\n", - " 'PMC10586897': [{'variant_id': 'rs4148323', 'gene': 'UGT1A1', 'allele': 'A'},\n", - " {'variant_id': 'rs7662029', 'gene': 'UGT2B7', 'allele': 'G'},\n", - " {'variant_id': 'rs7439366', 'gene': 'UGT2B7', 'allele': 'C'}],\n", - " 'PMC10786450': [{'variant_id': 'rs4818',\n", - " 'gene': 'COMT',\n", - " 'allele': 'CC + CG'}],\n", - " 'PMC9903350': [{'variant_id': 'rs4244285',\n", - " 'gene': 'CYP2C19',\n", - " 'allele': 'AA + AG'}],\n", - " 'PMC6987567': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'}],\n", - " 'PMC3919513': [{'variant_id': 'rs112561475',\n", - " 'gene': 'UGT2B10',\n", - " 'allele': 'AG + GG'},\n", - " {'variant_id': 'rs61750900', 'gene': 'UGT2B10', 'allele': 'T'}],\n", - " 'PMC2759106': [{'variant_id': 'rs267606617',\n", - " 'gene': 'MT-RNR1',\n", - " 'allele': 'G'}],\n", - " 'PMC11434779': [{'variant_id': 'rs11615',\n", - " 'gene': 'ERCC1',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs4793665', 'gene': 'ABCC3', 'allele': 'TT'}],\n", - " 'PMC4975126': [{'variant_id': 'rs4291', 'gene': 'ACE', 'allele': 'AA'}],\n", - " 'PMC3548029': [{'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'},\n", - " {'variant_id': 'rs1799971', 'gene': 'OPRM1', 'allele': 'G'}],\n", - " 'PMC9302309': [{'variant_id': 'rs7606353', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs62283056', 'gene': 'WFS1', 'allele': 'C'}],\n", - " 'PMC9541367': [{'variant_id': 'rs4471527', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs77542827', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs199755581', 'gene': 'NIPAL2', 'allele': 'A'},\n", - " {'variant_id': 'rs77491650', 'gene': 'DDX12P', 'allele': 'C'}],\n", - " 'PMC6166924': [{'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'G'},\n", - " {'variant_id': 'rs16918482', 'gene': 'RRM2B', 'allele': 'C'},\n", - " {'variant_id': 'rs1891643', 'gene': 'SAMHD1', 'allele': 'G'},\n", - " {'variant_id': 'rs8124728', 'gene': 'SAMHD1', 'allele': 'A'},\n", - " {'variant_id': 'rs8187758', 'gene': 'SLC28A1', 'allele': 'A'}],\n", - " 'PMC3700411': [{'variant_id': 'rs1799971',\n", - " 'gene': 'OPRM1',\n", - " 'allele': 'AG + GG'}],\n", - " 'PMC10925634': [{'variant_id': 'rs1045642',\n", - " 'gene': 'ABCB1',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs2032582', 'gene': 'ABCB1', 'allele': 'CC'},\n", - " {'variant_id': 'rs1128503', 'gene': 'ABCB1', 'allele': 'AA + AG'}],\n", - " 'PMC2913951': [{'variant_id': 'rs1870377', 'gene': 'KDR', 'allele': 'T'},\n", - " {'variant_id': 'rs1870377', 'gene': 'KDR', 'allele': 'T'}],\n", - " 'PMC3706515': [{'variant_id': 'rs9552679', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs6988229', 'gene': 'COL22A1', 'allele': 'T'},\n", - " {'variant_id': 'rs17495520', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs1663332', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs1663330', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs17701271', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs518350', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs10511905', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs1522113', 'gene': 'CLOCK', 'allele': 'A'},\n", - " {'variant_id': 'rs1423515', 'gene': None, 'allele': 'A'},\n", - " {'variant_id': 'rs1419555', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs6002674', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs11252394', 'gene': None, 'allele': 'A'}],\n", - " 'PMC3425941': [{'variant_id': 'rs11503014', 'gene': 'GABRA2', 'allele': 'G'},\n", - " {'variant_id': 'rs2236256', 'gene': 'OPRM1', 'allele': 'C'}],\n", - " 'PMC5053704': [{'variant_id': 'rs2070744', 'gene': 'NOS3', 'allele': 'TT'},\n", - " {'variant_id': 'rs1799983', 'gene': 'NOS3', 'allele': 'GG'},\n", - " {'variant_id': 'rs1799983', 'gene': 'NOS3', 'allele': 'GG'},\n", - " {'variant_id': 'rs2070744', 'gene': 'NOS3', 'allele': 'TT'}],\n", - " 'PMC4999337': [{'variant_id': 'rs116855232',\n", - " 'gene': 'NUDT15',\n", - " 'allele': 'TT'},\n", - " {'variant_id': 'rs116855232', 'gene': 'NUDT15', 'allele': 'T'},\n", - " {'variant_id': 'rs116855232', 'gene': 'NUDT15', 'allele': 'T'},\n", - " {'variant_id': 'rs116855232', 'gene': 'NUDT15', 'allele': 'T'},\n", - " {'variant_id': 'rs116855232', 'gene': 'NUDT15', 'allele': 'TT'}],\n", - " 'PMC3667396': [{'variant_id': 'rs37973', 'gene': 'GLCCI1', 'allele': 'GG'}],\n", - " 'PMC10506908': [{'variant_id': 'rs61752783', 'gene': 'POLG', 'allele': 'A'}],\n", - " 'PMC7831885': [{'variant_id': 'rs12132152', 'gene': 'DPYD', 'allele': 'AG'},\n", - " {'variant_id': 'rs115232898', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC3139322': [{'variant_id': 'rs1801086', 'gene': 'RYR1', 'allele': 'C'}],\n", - " 'PMC10933594': [{'variant_id': 'rs2257212',\n", - " 'gene': 'SLC15A2',\n", - " 'allele': 'T'}],\n", - " 'PMC3235081': [{'variant_id': 'rs396991', 'gene': 'FCGR3A', 'allele': 'A'},\n", - " {'variant_id': 'rs9344', 'gene': 'CCND1', 'allele': 'G'}],\n", - " 'PMC4980282': [{'variant_id': 'rs6461639', 'gene': 'RAPGEF5', 'allele': 'T'},\n", - " {'variant_id': 'rs6461639', 'gene': 'RAPGEF5', 'allele': 'TT'}],\n", - " 'PMC3967864': [{'variant_id': 'rs11568817',\n", - " 'gene': 'HTR1B',\n", - " 'allele': 'AC + CC'},\n", - " {'variant_id': 'rs6311', 'gene': 'HTR2A', 'allele': 'CT + TT'}],\n", - " 'PMC2850440': [{'variant_id': 'rs17234657', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs11805303', 'gene': 'IL23R', 'allele': 'T'},\n", - " {'variant_id': 'rs10033464', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs2200733', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs2104286', 'gene': 'IL2RA', 'allele': 'T'},\n", - " {'variant_id': 'rs6679677', 'gene': 'PHTF1, RSBN1', 'allele': 'A'},\n", - " {'variant_id': 'rs3135388', 'gene': 'HLA-DRA', 'allele': 'A'},\n", - " {'variant_id': 'rs6897932', 'gene': 'IL7R', 'allele': 'T'},\n", - " {'variant_id': 'rs2542151', 'gene': None, 'allele': 'G'},\n", - " {'variant_id': 'rs17221417', 'gene': 'NOD2', 'allele': 'G'},\n", - " {'variant_id': 'rs1000113', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs8050136', 'gene': 'FTO', 'allele': 'A'},\n", - " {'variant_id': 'rs5219', 'gene': 'KCNJ11', 'allele': 'T'},\n", - " {'variant_id': 'rs5215', 'gene': 'KCNJ11', 'allele': 'C'},\n", - " {'variant_id': 'rs12255372', 'gene': 'TCF7L2', 'allele': 'T'},\n", - " {'variant_id': 'rs12243326', 'gene': 'TCF7L2', 'allele': 'C'},\n", - " {'variant_id': 'rs4506565', 'gene': 'TCF7L2', 'allele': 'T'},\n", - " {'variant_id': 'rs10811661', 'gene': None, 'allele': 'C'},\n", - " {'variant_id': 'rs4402960', 'gene': 'IGF2BP2', 'allele': 'T'},\n", - " {'variant_id': 'rs2476601', 'gene': 'PTPN22', 'allele': 'A'}],\n", - " 'PMC3360116': [{'variant_id': 'rs7297610', 'gene': 'YEATS4', 'allele': 'CC'},\n", - " {'variant_id': 'rs7297610', 'gene': 'YEATS4', 'allele': 'CC'},\n", - " {'variant_id': 'rs7297610', 'gene': 'YEATS4', 'allele': 'CC'}],\n", - " 'PMC11534822': [{'variant_id': 'rs924607', 'gene': 'CEP72', 'allele': 'TT'}],\n", - " 'PMC10416089': [{'variant_id': 'rs12054895', 'gene': None, 'allele': 'T'},\n", - " {'variant_id': 'rs12054895', 'gene': None, 'allele': 'T'}],\n", - " 'PMC11583987': [{'variant_id': 'rs71647871', 'gene': 'CES1', 'allele': 'CT'}],\n", - " 'PMC2696936': [{'variant_id': 'rs267606617',\n", - " 'gene': 'MT-RNR1',\n", - " 'allele': 'G'}],\n", - " 'PMC8953705': [{'variant_id': 'rs1800629', 'gene': 'TNF', 'allele': 'GG'},\n", - " {'variant_id': 'rs1800797', 'gene': 'IL6', 'allele': 'A'},\n", - " {'variant_id': 'rs1800797', 'gene': 'IL6', 'allele': 'AG + GG'}],\n", - " 'PMC6612573': [{'variant_id': 'rs1229984', 'gene': 'ADH1B', 'allele': 'T'},\n", - " {'variant_id': 'rs61826952', 'gene': 'RABGAP1L', 'allele': 'G'}],\n", - " 'PMC3031788': [{'variant_id': 'rs10965219',\n", - " 'gene': 'CDKN2B-AS1',\n", - " 'allele': 'G'},\n", - " {'variant_id': 'rs10965219', 'gene': 'CDKN2B-AS1', 'allele': 'G'}],\n", - " 'PMC3690109': [{'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'AA'},\n", - " {'variant_id': 'rs4680', 'gene': 'COMT', 'allele': 'AA'}],\n", - " 'PMC11082567': [{'variant_id': 'rs1065852', 'gene': 'CYP2D6', 'allele': 'AA'},\n", - " {'variant_id': 'rs16947', 'gene': 'CYP2D6', 'allele': 'GG'},\n", - " {'variant_id': 'rs16947', 'gene': 'CYP2D6', 'allele': 'GG'},\n", - " {'variant_id': 'rs1065852', 'gene': 'CYP2D6', 'allele': 'AA'},\n", - " {'variant_id': 'rs1065852', 'gene': 'CYP2D6', 'allele': 'AA'},\n", - " {'variant_id': 'rs16947', 'gene': 'CYP2D6', 'allele': 'GG'}],\n", - " 'PMC3269589': [{'variant_id': 'rs4149056',\n", - " 'gene': 'SLCO1B1',\n", - " 'allele': 'CT + TT'}],\n", - " 'PMC8019867': [{'variant_id': 'rs1801131', 'gene': 'MTHFR', 'allele': 'G'},\n", - " {'variant_id': 'rs1801133', 'gene': 'MTHFR', 'allele': 'A'}],\n", - " 'PMC11106472': [{'variant_id': 'rs10849757',\n", - " 'gene': 'COQ5',\n", - " 'allele': 'AA + AG'},\n", - " {'variant_id': 'rs11548336', 'gene': 'COQ3', 'allele': 'TT'},\n", - " {'variant_id': 'rs4693075', 'gene': 'COQ2', 'allele': 'CG + GG'}],\n", - " 'PMC7718413': [{'variant_id': 'rs74497159',\n", - " 'gene': None,\n", - " 'allele': 'GG + GT'}],\n", - " 'PMC2940808': [{'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'}],\n", - " 'PMC3029225': [{'variant_id': 'rs267606618',\n", - " 'gene': 'MT-RNR1',\n", - " 'allele': 'C'},\n", - " {'variant_id': 'rs267606619', 'gene': 'MT-RNR1', 'allele': 'T'},\n", - " {'variant_id': 'rs267606617', 'gene': 'MT-RNR1', 'allele': 'G'}],\n", - " 'PMC3070684': [{'variant_id': 'rs67376798', 'gene': 'DPYD', 'allele': 'AT'},\n", - " {'variant_id': 'rs3918290', 'gene': 'DPYD', 'allele': 'CT'},\n", - " {'variant_id': 'rs55886062', 'gene': 'DPYD', 'allele': 'AC'}],\n", - " 'PMC2844036': [{'variant_id': 'rs2032582',\n", - " 'gene': 'ABCB1',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs3211371', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs12721655', 'gene': 'CYP2B6', 'allele': 'AG'},\n", - " {'variant_id': 'rs4244285', 'gene': 'CYP2C19', 'allele': 'AA'},\n", - " {'variant_id': 'rs8192709', 'gene': 'CYP2B6', 'allele': 'CT'},\n", - " {'variant_id': 'rs714368', 'gene': 'SLC22A16', 'allele': 'C'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs8192709', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs12210538', 'gene': 'SLC22A16', 'allele': 'G'},\n", - " {'variant_id': 'rs723685', 'gene': 'SLC22A16', 'allele': 'G'},\n", - " {'variant_id': 'rs6907567', 'gene': 'SLC22A16', 'allele': 'G'}],\n", - " 'PMC2842298': [{'variant_id': 'rs8014194', 'gene': 'CLMN', 'allele': 'A'}],\n", - " 'PMC8442489': [{'variant_id': 'rs2076295', 'gene': 'DSP', 'allele': 'TT'}],\n", - " 'PMC10139887': [{'variant_id': 'rs2231137',\n", - " 'gene': 'ABCG2',\n", - " 'allele': 'CT + TT'},\n", - " {'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'GG'}],\n", - " 'PMC2933581': [{'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'TT'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'TT'}],\n", - " 'PMC11357698': [{'variant_id': 'rs73800947', 'gene': 'GABRP', 'allele': 'T'},\n", - " {'variant_id': 'rs35719165', 'gene': 'SEMA5A', 'allele': 'A'},\n", - " {'variant_id': 'rs34234515', 'gene': 'SLCO1B1', 'allele': 'A'},\n", - " {'variant_id': 'rs1862167', 'gene': 'EDIL3', 'allele': 'T'},\n", - " {'variant_id': 'rs12913535', 'gene': 'SMAD3', 'allele': 'T'}],\n", - " 'PMC1729671': [{'variant_id': 'rs5186', 'gene': 'AGTR1', 'allele': 'CC'}],\n", - " 'PMC8872593': [{'variant_id': 'rs10821936', 'gene': 'ARID5B', 'allele': 'TT'},\n", - " {'variant_id': 'rs2372536', 'gene': 'ATIC', 'allele': 'G'}],\n", - " 'PMC1874364': [{'variant_id': 'rs1045642', 'gene': 'ABCB1', 'allele': 'AA'}],\n", - " 'PMC3614365': [{'variant_id': 'rs28399499', 'gene': 'CYP2B6', 'allele': 'C'},\n", - " {'variant_id': 'rs4803419', 'gene': 'CYP2B6', 'allele': 'T'},\n", - " {'variant_id': 'rs3745274', 'gene': 'CYP2B6', 'allele': 'T'}],\n", - " 'PMC7655616': [{'variant_id': 'rs4939827', 'gene': 'SMAD7', 'allele': 'CC'},\n", - " {'variant_id': 'rs3812863', 'gene': 'CDX2', 'allele': 'GG'}],\n", - " ...}" - ] - }, - "execution_count": 208, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "true_variant_list_json" - ] - }, - { - "cell_type": "code", - "execution_count": 213, - "metadata": {}, - "outputs": [], - "source": [ - "# save true variant list to file\n", - "json.dump(true_variant_list_json, open(\"data/benchmark/true_variant_list.json\", \"w\"), indent=2)" - ] - }, - { - "cell_type": "markdown", - "metadata": {}, - "source": [ - "## Compare extract variants list to true_variant_list" - ] - }, - { - "cell_type": "code", - "execution_count": 290, - "metadata": {}, - "outputs": [], - "source": [ - "from tqdm import tqdm\n", - "from src.utils import compare_lists" - ] - }, - { - "cell_type": "code", - "execution_count": 277, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "================= PMC6714673 =================\n", - "Experimental List:\n", - "\u001b[31mrs1057910\u001b[0m \u001b[31mrs1799853\u001b[0m \u001b[31mrs9923231\u001b[0m \u001b[31mrs1043550\u001b[0m \u001b[31mrs12714145\u001b[0m \u001b[31mrs1051740\u001b[0m \u001b[31mrs2108622\u001b[0m \u001b[31mrs6046\u001b[0m \u001b[31mrs11676382\u001b[0m \u001b[31mrs699664\u001b[0m \u001b[31mrs1799853\u001b[0m \u001b[31mrs1057910\u001b[0m \u001b[31mrs11676382\u001b[0m \u001b[31mrs6046\u001b[0m \u001b[31mrs2108622\u001b[0m \u001b[31mrs699664\u001b[0m \u001b[31mrs1043550\u001b[0m \u001b[31mrs12714145\u001b[0m \u001b[31mrs1051740\u001b[0m \u001b[31mrs9923231\u001b[0m\n", - "\n", - "Ground Truth List:\n", - "\u001b[31mrs113993960\u001b[0m \u001b[31mCYP2C19*1\u001b[0m \u001b[31mCYP2C19*2\u001b[0m \u001b[31mCYP2C19*3\u001b[0m \u001b[31mCYP2C19*4\u001b[0m \u001b[31mCYP2C19*5\u001b[0m \u001b[31mCYP2C19*6\u001b[0m \u001b[31mCYP2C19*7\u001b[0m \u001b[31mCYP2C19*8\u001b[0m \u001b[31mCYP2C19*9\u001b[0m \u001b[31mCYP2C19*10\u001b[0m \u001b[31mCYP2C19*11\u001b[0m \u001b[31mCYP2C19*12\u001b[0m \u001b[31mCYP2C19*13\u001b[0m \u001b[31mCYP2C19*14\u001b[0m \u001b[31mCYP2C19*15\u001b[0m \u001b[31mCYP2C19*16\u001b[0m \u001b[31mCYP2C19*17\u001b[0m \u001b[31mCYP2C19*18\u001b[0m \u001b[31mCYP2C19*19\u001b[0m \u001b[31mCYP2C19*20\u001b[0m \u001b[31mCYP2C19*21\u001b[0m \u001b[31mCYP2C19*22\u001b[0m \u001b[31mCYP2C19*23\u001b[0m \u001b[31mCYP2C19*24\u001b[0m \u001b[31mCYP2C19*25\u001b[0m \u001b[31mCYP2C19*26\u001b[0m \u001b[31mCYP2C19*27\u001b[0m \u001b[31mCYP2C19*28\u001b[0m \u001b[31mCYP2C19*29\u001b[0m \u001b[31mCYP2C19*30\u001b[0m\n", - "================= PMC3553682 =================\n", - "Experimental List:\n", - "\u001b[31mCYP2B6*6\u001b[0m \u001b[31mCYP2B6*1\u001b[0m \u001b[31mrs8192709\u001b[0m \u001b[31mrs2279343\u001b[0m \u001b[31mrs3745274\u001b[0m \u001b[31mrs3745274\u001b[0m \u001b[31mrs3745274\u001b[0m \u001b[31mrs2279343\u001b[0m \u001b[31mrs3211371\u001b[0m\n", - "\n", - "Ground Truth List:\n", - "\u001b[31mrs113993960\u001b[0m \u001b[31mrs3892097\u001b[0m \u001b[31mCYP2C9*3\u001b[0m \u001b[31mrs1057910\u001b[0m \u001b[31mrs1801133\u001b[0m \u001b[31mrs1800497\u001b[0m \u001b[31mrs2236225\u001b[0m \u001b[31mrs9923231\u001b[0m\n", - "================= PMC4270923 =================\n", - "Experimental List:\n", - "\u001b[31mrs4752292\u001b[0m \u001b[31mrs3740563\u001b[0m \u001b[31mrs10787959\u001b[0m \u001b[31mrs11198893\u001b[0m \u001b[31mrs16947\u001b[0m\n", - "\n", - "Ground Truth List:\n", - "\u001b[31mrs113993960\u001b[0m \u001b[31mCYP2C19*1\u001b[0m \u001b[31mCYP2C19*2\u001b[0m \u001b[31mCYP2C19*3\u001b[0m \u001b[31mCYP2C19*4\u001b[0m \u001b[31mCYP2C19*5\u001b[0m \u001b[31mCYP2C19*6\u001b[0m \u001b[31mCYP2C19*7\u001b[0m \u001b[31mCYP2C19*8\u001b[0m \u001b[31mCYP2C19*9\u001b[0m \u001b[31mCYP2C19*10\u001b[0m \u001b[31mCYP2C19*11\u001b[0m \u001b[31mCYP2C19*12\u001b[0m \u001b[31mCYP2C19*13\u001b[0m \u001b[31mCYP2C19*14\u001b[0m \u001b[31mCYP2C19*15\u001b[0m \u001b[31mCYP2C19*16\u001b[0m \u001b[31mCYP2C19*17\u001b[0m \u001b[31mCYP2C19*18\u001b[0m \u001b[31mCYP2C19*19\u001b[0m \u001b[31mCYP2C19*20\u001b[0m \u001b[31mCYP2C19*21\u001b[0m \u001b[31mCYP2C19*22\u001b[0m \u001b[31mCYP2C19*23\u001b[0m \u001b[31mCYP2C19*24\u001b[0m \u001b[31mCYP2C19*25\u001b[0m \u001b[31mCYP2C19*26\u001b[0m \u001b[31mCYP2C19*27\u001b[0m \u001b[31mCYP2C19*28\u001b[0m \u001b[31mCYP2C19*29\u001b[0m \u001b[31mCYP2C19*30\u001b[0m\n", - "================= PMC4557249 =================\n", - "Experimental List:\n", - "\u001b[31mSLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)\u001b[0m \u001b[31mrs6311\u001b[0m \u001b[31mrs6295\u001b[0m \u001b[31mrs6313\u001b[0m\n", - "\n", - "Ground Truth List:\n", - "\u001b[31mrs113993960\u001b[0m \u001b[31mCYP2C19*1\u001b[0m \u001b[31mCYP2C19*2\u001b[0m \u001b[31mCYP2C19*3\u001b[0m \u001b[31mCYP2C19*4\u001b[0m \u001b[31mCYP2C19*5\u001b[0m \u001b[31mCYP2C19*6\u001b[0m \u001b[31mCYP2C19*7\u001b[0m \u001b[31mCYP2C19*8\u001b[0m \u001b[31mCYP2C19*9\u001b[0m \u001b[31mCYP2C19*10\u001b[0m \u001b[31mCYP2C19*11\u001b[0m \u001b[31mCYP2C19*12\u001b[0m \u001b[31mCYP2C19*13\u001b[0m \u001b[31mCYP2C19*14\u001b[0m \u001b[31mCYP2C19*15\u001b[0m \u001b[31mCYP2C19*16\u001b[0m \u001b[31mCYP2C19*17\u001b[0m \u001b[31mCYP2C19*18\u001b[0m \u001b[31mCYP2C19*19\u001b[0m \u001b[31mCYP2C19*20\u001b[0m \u001b[31mCYP2C19*21\u001b[0m \u001b[31mCYP2C19*22\u001b[0m \u001b[31mCYP2C19*23\u001b[0m \u001b[31mCYP2C19*24\u001b[0m \u001b[31mCYP2C19*25\u001b[0m \u001b[31mCYP2C19*26\u001b[0m \u001b[31mCYP2C19*27\u001b[0m \u001b[31mCYP2C19*28\u001b[0m \u001b[31mCYP2C19*29\u001b[0m \u001b[31mCYP2C19*30\u001b[0m\n", - "================= PMC4220464 =================\n", - "Experimental List:\n", - "\u001b[31mrs445925\u001b[0m \u001b[31mrs10455872\u001b[0m \u001b[31mrs2900478\u001b[0m \u001b[31mrs646776\u001b[0m\n", - "\n", - "Ground Truth List:\n", - "\u001b[31mrs113993960\u001b[0m \u001b[31mrs1057910\u001b[0m \u001b[31mrs4244285\u001b[0m \u001b[31mrs4986893\u001b[0m \u001b[31mrs28371607\u001b[0m \u001b[31mrs1801133\u001b[0m \u001b[31mrs1801131\u001b[0m \u001b[31mrs2236225\u001b[0m \u001b[31mrs9923231\u001b[0m \u001b[31mrs2735383\u001b[0m \u001b[31mrs3892097\u001b[0m \u001b[31mrs1065852\u001b[0m\n", - "================= PMC4730664 =================\n", - "Experimental List:\n", - "\u001b[31mCYP3A5*1, CYP3A5*3\u001b[0m \u001b[31mCYP3A5*1, CYP3A5*3\u001b[0m\n", - "\n", - "Ground Truth List:\n", - "\u001b[31mrs113993960\u001b[0m \u001b[31mCYP2C19*1\u001b[0m \u001b[31mCYP2C19*2\u001b[0m \u001b[31mCYP2C19*3\u001b[0m \u001b[31mCYP2C19*4\u001b[0m \u001b[31mCYP2C19*5\u001b[0m \u001b[31mCYP2C19*6\u001b[0m \u001b[31mCYP2C19*7\u001b[0m \u001b[31mCYP2C19*8\u001b[0m \u001b[31mCYP2C19*9\u001b[0m \u001b[31mCYP2C19*10\u001b[0m \u001b[31mCYP2C19*11\u001b[0m \u001b[31mCYP2C19*12\u001b[0m \u001b[31mCYP2C19*13\u001b[0m \u001b[31mCYP2C19*14\u001b[0m \u001b[31mCYP2C19*15\u001b[0m \u001b[31mCYP2C19*16\u001b[0m \u001b[31mCYP2C19*17\u001b[0m \u001b[31mCYP2C19*18\u001b[0m \u001b[31mCYP2C19*19\u001b[0m \u001b[31mCYP2C19*20\u001b[0m\n" - ] - } - ], - "source": [ - "for pmcid in extracted_variants.keys():\n", - " experimental = [x[\"variant_id\"] for x in extracted_variants[pmcid]]\n", - " ground_truth = [x[\"variant_id\"] for x in true_variants[pmcid]]\n", - " # print differences\n", - " compare_lists(ground_truth, experimental)" - ] - }, - { - "cell_type": "code", - "execution_count": 254, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "dict_keys(['PMC6714673', 'PMC3553682', 'PMC4270923', 'PMC4557249', 'PMC4220464', 'PMC4730664'])\n", - "dict_keys(['PMC6714673', 'PMC3553682', 'PMC4270923', 'PMC4557249', 'PMC4220464', 'PMC4730664'])\n" - ] - } - ], - "source": [ - "print(extracted_variants.keys())\n", - "print(true_variants.keys())" - ] - }, - { - "cell_type": "code", - "execution_count": 268, - "metadata": {}, - "outputs": [ - { - "ename": "TypeError", - "evalue": "list indices must be integers or slices, not str", - "output_type": "error", - "traceback": [ - "\u001b[31m---------------------------------------------------------------------------\u001b[39m", - "\u001b[31mTypeError\u001b[39m Traceback (most recent call last)", - "\u001b[36mCell\u001b[39m\u001b[36m \u001b[39m\u001b[32mIn[268]\u001b[39m\u001b[32m, line 1\u001b[39m\n\u001b[32m----> \u001b[39m\u001b[32m1\u001b[39m [x[\u001b[33m'\u001b[39m\u001b[33mvariant_id\u001b[39m\u001b[33m'\u001b[39m] \u001b[38;5;28;01mfor\u001b[39;00m x \u001b[38;5;129;01min\u001b[39;00m \u001b[43mground_truth\u001b[49m\u001b[43m[\u001b[49m\u001b[43mpmcid\u001b[49m\u001b[43m]\u001b[49m]\n", - "\u001b[31mTypeError\u001b[39m: list indices must be integers or slices, not str" - ] - } - ], - "source": [ - "[x['variant_id'] for x in ground_truth[pmcid]]" - ] - }, - { - "cell_type": "code", - "execution_count": 274, - "metadata": {}, - "outputs": [], - "source": [ - "true_variants = json.load(open(\"data/benchmark/true_variant_list.json\"))" - ] - }, - { - "cell_type": "code", - "execution_count": 276, - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "[{'variant_id': 'rs2909451', 'gene': 'DPP4', 'allele': 'TT'},\n", - " {'variant_id': 'rs2285676', 'gene': 'KCNJ11', 'allele': 'CC'},\n", - " {'variant_id': 'rs163184', 'gene': 'KCNQ1', 'allele': 'GG'},\n", - " {'variant_id': 'rs7754840', 'gene': 'CDKAL1', 'allele': 'CG'},\n", - " {'variant_id': 'rs4664443', 'gene': 'DPP4', 'allele': 'GG'},\n", - " {'variant_id': 'rs1799853', 'gene': 'CYP2C9', 'allele': 'TT'},\n", - " {'variant_id': 'rs3765467', 'gene': 'GLP1R', 'allele': 'AG'},\n", - " {'variant_id': 'rs6923761', 'gene': 'GLP1R', 'allele': 'AA'}]" - ] - }, - "execution_count": 276, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "true_variants[\"PMC11730665\"]" - ] - }, - { - "cell_type": "code", - "execution_count": 295, - "metadata": {}, - "outputs": [ - { - "name": "stderr", - "output_type": "stream", - "text": [ - "\u001b[32m2025-06-13 20:08:55.192\u001b[0m | \u001b[1mINFO \u001b[0m | \u001b[36msrc.annotation_extraction.article_parser\u001b[0m:\u001b[36m__init__\u001b[0m:\u001b[36m32\u001b[0m - \u001b[1mGetting article text from PMCID: PMC11730665\u001b[0m\n", - "\u001b[32m2025-06-13 20:08:55.194\u001b[0m | \u001b[1mINFO \u001b[0m | \u001b[36msrc.annotation_extraction.article_parser\u001b[0m:\u001b[36mremove_references_section\u001b[0m:\u001b[36m79\u001b[0m - \u001b[1mRemoved References section from article text\u001b[0m\n", - "\u001b[32m2025-06-13 20:08:55.194\u001b[0m | \u001b[34m\u001b[1mDEBUG \u001b[0m | \u001b[36msrc.annotation_extraction.components\u001b[0m:\u001b[36mextract_variants_list\u001b[0m:\u001b[36m18\u001b[0m - \u001b[34m\u001b[1mModel: gpt-4o, Temperature: 0.1\u001b[0m\n", - "\u001b[32m2025-06-13 20:08:55.195\u001b[0m | \u001b[34m\u001b[1mDEBUG \u001b[0m | \u001b[36msrc.annotation_extraction.components\u001b[0m:\u001b[36mextract_variants_list\u001b[0m:\u001b[36m19\u001b[0m - \u001b[34m\u001b[1mPMCID: PMC11730665\u001b[0m\n" - ] - } - ], - "source": [ - "extracted_variants[\"PMC11730665\"] = extract_variants_list(pmcid=\"PMC11730665\", debug=True)" - ] - }, - { - "cell_type": "code", - "execution_count": 296, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "================= PMC11730665 =================\n", - "Experimental List:\n", - "\u001b[32mrs2909451\u001b[0m \u001b[32mrs2285676\u001b[0m \u001b[32mrs163184\u001b[0m \u001b[32mrs7754840\u001b[0m \u001b[32mrs4664443\u001b[0m \u001b[32mrs1799853\u001b[0m \u001b[32mrs3765467\u001b[0m \u001b[32mrs6923761\u001b[0m\n", - "\n", - "Ground Truth List:\n", - "\u001b[32mrs2909451\u001b[0m \u001b[32mrs4664443\u001b[0m \u001b[32mrs3765467\u001b[0m \u001b[32mrs6923761\u001b[0m \u001b[32mrs163184\u001b[0m \u001b[32mrs2285676\u001b[0m \u001b[32mrs7754840\u001b[0m \u001b[31mrs756992\u001b[0m \u001b[32mrs1799853\u001b[0m \u001b[31mrs1057910\u001b[0m\n" - ] - }, - { - "data": { - "text/plain": [ - "(8, 0, 0, 2)" - ] - }, - "execution_count": 296, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "experimental = [x[\"variant_id\"] for x in extracted_variants[\"PMC11730665\"]]\n", - "ground_truth = [x[\"variant_id\"] for x in true_variants[\"PMC11730665\"]]\n", - "# print differences\n", - "compare_lists(ground_truth, experimental, \"PMC11730665\")" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "metadata": {}, - "outputs": [], - "source": [] - } - ], - "metadata": { - "kernelspec": { - "display_name": "default", - "language": "python", - "name": "python3" - }, - "language_info": { - "codemirror_mode": { - "name": "ipython", - "version": 3 - }, - "file_extension": ".py", - "mimetype": "text/x-python", - "name": "python", - "nbconvert_exporter": "python", - "pygments_lexer": "ipython3", - "version": "3.13.3" - } - }, - "nbformat": 4, - "nbformat_minor": 2 -} diff --git a/notebooks/lookup.ipynb b/notebooks/lookup.ipynb deleted file mode 100644 index 4644594..0000000 --- a/notebooks/lookup.ipynb +++ /dev/null @@ -1,122 +0,0 @@ -{ - "cells": [ - { - "cell_type": "code", - "execution_count": 1, - "id": "d0fbcd40", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "/Users/shloknatarajan/stanford/research/daneshjou/AutoGKB\n" - ] - } - ], - "source": [ - "# Notebook Setup\n", - "# Run this cell: \n", - "# The lines below will instruct jupyter to reload imported modules before \n", - "# executing code cells. This enables you to quickly iterate and test revisions\n", - "# to your code without having to restart the kernel and reload all of your \n", - "# modules each time you make a code change in a separate python file.\n", - "\n", - "%load_ext autoreload\n", - "%autoreload 2\n", - "\n", - "import os\n", - "\n", - "# Change path to project root\n", - "if os.getcwd().endswith(\"notebooks\"):\n", - " os.chdir(os.path.dirname(os.getcwd()))\n", - "print(os.getcwd())" - ] - }, - { - "cell_type": "code", - "execution_count": 2, - "id": "890ee4d3", - "metadata": {}, - "outputs": [], - "source": [ - "from src.ontology import VariantLookup, DrugLookup\n", - "variant_lookup = VariantLookup()\n", - "drug_lookup = DrugLookup()\n" - ] - }, - { - "cell_type": "code", - "execution_count": 9, - "id": "6eaf25a8", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "[VariantSearchResult(raw_input='OCT1*5', id='PA166165231', name='rs746071566', url='https://www.clinpgx.org/variant/PA166165231', score=0.5)]" - ] - }, - "execution_count": 9, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "variant_lookup.search(\"OCT1*5\", threshold=0.5)" - ] - }, - { - "cell_type": "code", - "execution_count": 4, - "id": "a3dce668", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "[DrugSearchResult(raw_input='ibuprofen', id='PA449957', name='ibuprofen', url='https://www.clinpgx.org/chemical/PA449957', score=1.0),\n", - " DrugSearchResult(raw_input='ibuprofen', id='PA166049174', name='dexibuprofen', url='https://www.clinpgx.org/chemical/PA166049174', score=0.8571428571428571),\n", - " DrugSearchResult(raw_input='ibuprofen', id='PA451569', name='suprofen', url='https://www.clinpgx.org/chemical/PA451569', score=0.8235294117647058)]" - ] - }, - "execution_count": 4, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "drug_lookup.search(\"ibuprofen\")" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "5fa6fae5", - "metadata": {}, - "outputs": [], - "source": [] - } - ], - "metadata": { - "kernelspec": { - "display_name": "default", - "language": "python", - "name": "python3" - }, - "language_info": { - "codemirror_mode": { - "name": "ipython", - "version": 3 - }, - "file_extension": ".py", - "mimetype": "text/x-python", - "name": "python", - "nbconvert_exporter": "python", - "pygments_lexer": "ipython3", - "version": "3.13.3" - } - }, - "nbformat": 4, - "nbformat_minor": 5 -} diff --git a/notebooks/provided_pmcids.ipynb b/notebooks/provided_pmcids.ipynb deleted file mode 100644 index c3c98d8..0000000 --- a/notebooks/provided_pmcids.ipynb +++ /dev/null @@ -1,291 +0,0 @@ -{ - "cells": [ - { - "cell_type": "code", - "execution_count": 2, - "id": "96d2995d", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "The autoreload extension is already loaded. To reload it, use:\n", - " %reload_ext autoreload\n", - "/Users/shloknatarajan/stanford/research/daneshjou/AutoGKB\n" - ] - } - ], - "source": [ - "# Notebook Setup\n", - "# Run this cell: \n", - "# The lines below will instruct jupyter to reload imported modules before \n", - "# executing code cells. This enables you to quickly iterate and test revisions\n", - "# to your code without having to restart the kernel and reload all of your \n", - "# modules each time you make a code change in a separate python file.\n", - "\n", - "%load_ext autoreload\n", - "%autoreload 2\n", - "\n", - "import os\n", - "\n", - "# Change path to project root\n", - "if os.getcwd().endswith(\"notebooks\"):\n", - " os.chdir(os.path.dirname(os.getcwd()))\n", - "print(os.getcwd())" - ] - }, - { - "cell_type": "code", - "execution_count": 5, - "id": "0f52e6b3", - "metadata": {}, - "outputs": [], - "source": [ - "# load data/variantAnnotations/annotations_by_pmcid.json\n", - "annotations_by_pmcid = None\n", - "import json\n", - "with open(\"data/variantAnnotations/annotations_by_pmcid.json\", \"r\") as f:\n", - " annotations_by_pmcid = json.load(f)\n" - ] - }, - { - "cell_type": "code", - "execution_count": 7, - "id": "aefae2ed", - "metadata": {}, - "outputs": [], - "source": [ - "# Provided list\n", - "provided_pmcids = [\n", - " \"PMC11430164\",\n", - " \"PMC10786722\",\n", - " \"PMC10993165\",\n", - " \"PMC12331468\",\n", - " \"PMC12319246\",\n", - " \"PMC12260932\",\n", - " \"PMC10275785\",\n", - " \"PMC12320098\",\n", - " \"PMC5508045\",\n", - " \"PMC4706412\",\n", - " \"PMC11603346\",\n", - " \"PMC2859392\",\n", - " \"PMC10399933\",\n", - " \"PMC12038368\",\n", - " \"PMC4916189\",\n", - " \"PMC6714829\",\n", - " \"PMC10946077\",\n", - " \"PMC11062152\",\n", - " \"PMC6465603\",\n", - " \"PMC8973308\",\n", - " \"PMC12035587\",\n", - " \"PMC5561238\",\n", - " \"PMC3839910\",\n", - " \"PMC384715\",\n", - " \"PMC3113609\",\n", - " \"PMC554812\",\n", - " \"PMC3387531\", \n", - " \"PMC8790808\",\n", - " \"PMC3548984\",\n", - " \"PMC3584248\",\n", - " \"PMC6435416\",\n", - " \"PMC11971672\",\n", - " \"PMC12036300\",\n", - " \"PMC10880264\",\n", - "]" - ] - }, - { - "cell_type": "code", - "execution_count": 13, - "id": "2fb3bbd0", - "metadata": {}, - "outputs": [], - "source": [ - "# Filter annotations_by_pmcid for provided_pmcids\n", - "filtered_annotations = {}\n", - "for annotation in annotations_by_pmcid:\n", - " if annotation[\"pmcid\"] in provided_pmcids:\n", - " filtered_annotations[annotation[\"pmcid\"]] = annotation\n", - "\n", - "# Save filtered annotations\n", - "with open(\"data/variantAnnotations/annotations_by_pmcid_filtered.json\", \"w\") as f:\n", - " json.dump(filtered_annotations, f)\n" - ] - }, - { - "cell_type": "code", - "execution_count": 17, - "id": "574aaa0d", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "26" - ] - }, - "execution_count": 17, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "len(filtered_annotations.keys())" - ] - }, - { - "cell_type": "code", - "execution_count": 19, - "id": "5126f4ee", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "PMCID PMC11430164 not found in filtered annotations\n", - "PMCID PMC12331468 not found in filtered annotations\n", - "PMCID PMC12319246 not found in filtered annotations\n", - "PMCID PMC12260932 not found in filtered annotations\n", - "PMCID PMC12320098 not found in filtered annotations\n", - "PMCID PMC12038368 not found in filtered annotations\n", - "PMCID PMC11971672 not found in filtered annotations\n", - "PMCID PMC12036300 not found in filtered annotations\n" - ] - } - ], - "source": [ - "for pmcid in provided_pmcids:\n", - " if pmcid not in filtered_annotations.keys():\n", - " print(f\"PMCID {pmcid} not found in filtered annotations\")\n" - ] - }, - { - "cell_type": "code", - "execution_count": 24, - "id": "992735eb", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "Found 34836 PMIDs\n" - ] - } - ], - "source": [ - "# load all_pmids.txt\n", - "with open(\"data/variantAnnotations/all_pmids.txt\", \"r\") as f:\n", - " all_pmids = f.readlines()\n", - " # Convert to list of integers\n", - "all_pmids = [int(pmid) for pmid in all_pmids]\n", - "\n", - "# Print number of PMIDs\n", - "print(f\"Found {len(all_pmids)} PMIDs\")\n" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "76dd8dc4", - "metadata": {}, - "outputs": [], - "source": [ - "provided_pmids = [\n", - " 39346054,\n", - " 38216550,\n", - " 38568509,\n", - " 40786508,\n", - " 40761554,\n", - " 40672687,\n", - " 37332933,\n", - " 40762011,\n", - " 28550460,\n", - " 26745506,\n", - " 39604537,\n", - " 20338069,\n", - " 37490620,\n", - " 40297930,\n", - " 26715213,\n", - " 30336686,\n", - " 38497131,\n", - " 38707740,\n", - " 31024313,\n", - " 35431360,\n", - " 40099566,\n", - " 28819312,\n", - " 23588310,\n", - " 15024131,\n", - " 21428769,\n", - " 15743917,\n", - " 21505298,\n", - " 33768542,\n", - " 23213055,\n", - " 23476897,\n", - " 30661084,\n", - " 40184070,\n", - " 40295977,\n", - " 38377518\n", - "]" - ] - }, - { - "cell_type": "code", - "execution_count": 27, - "id": "8822f141", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "PMID 39346054 not found in all_pmids\n", - "PMID 40786508 not found in all_pmids\n", - "PMID 40761554 not found in all_pmids\n", - "PMID 40672687 not found in all_pmids\n", - "PMID 40762011 not found in all_pmids\n", - "PMID 40297930 not found in all_pmids\n", - "PMID 40184070 not found in all_pmids\n", - "PMID 40295977 not found in all_pmids\n" - ] - } - ], - "source": [ - "for pmid in provided_pmids:\n", - " if pmid not in all_pmids:\n", - " print(f\"PMID {pmid} not found in all_pmids\")\n" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "98d74947", - "metadata": {}, - "outputs": [], - "source": [] - } - ], - "metadata": { - "kernelspec": { - "display_name": "default", - "language": "python", - "name": "python3" - }, - "language_info": { - "codemirror_mode": { - "name": "ipython", - "version": 3 - }, - "file_extension": ".py", - "mimetype": "text/x-python", - "name": "python", - "nbconvert_exporter": "python", - "pygments_lexer": "ipython3", - "version": "3.13.3" - } - }, - "nbformat": 4, - "nbformat_minor": 5 -} diff --git a/notebooks/table_generation.ipynb b/notebooks/table_generation.ipynb deleted file mode 100644 index 04f0e1e..0000000 --- a/notebooks/table_generation.ipynb +++ /dev/null @@ -1,348 +0,0 @@ -{ - "cells": [ - { - "cell_type": "code", - "execution_count": 5, - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "The autoreload extension is already loaded. To reload it, use:\n", - " %reload_ext autoreload\n", - "/Users/shloknatarajan/stanford/research/daneshjou/AutoGKB\n" - ] - } - ], - "source": [ - "# Notebook Setup\n", - "# Run this cell: \n", - "# The lines below will instruct jupyter to reload imported modules before \n", - "# executing code cells. This enables you to quickly iterate and test revisions\n", - "# to your code without having to restart the kernel and reload all of your \n", - "# modules each time you make a code change in a separate python file.\n", - "\n", - "%load_ext autoreload\n", - "%autoreload 2\n", - "\n", - "import os\n", - "\n", - "# Change path to project root\n", - "if os.getcwd().endswith(\"notebooks\"):\n", - " os.chdir(os.path.dirname(os.getcwd()))\n", - "print(os.getcwd())" - ] - }, - { - "cell_type": "code", - "execution_count": 12, - "metadata": {}, - "outputs": [ - { - "name": "stderr", - "output_type": "stream", - "text": [ - "Generating 1 Responses: 0%| | 0/1 [00:003-glucosyltransferase""" Yes No Comparative Toxicogenomics Database:29929, Ensembl:ENSG00000088035, GeneCard:ALG6, HGNC:HGNC:23157, HumanCyc Gene:HS01588, NCBI Gene:29929, OMIM:603147, OMIM:604566, RefSeq DNA:NG_008925, RefSeq DNA:NT_032977, RefSeq Protein:NP_037471, RefSeq RNA:NM_013339, UniProtKB:Q9Y672 No chr1 63833261 63904233 63367590 63438562 +PA134942124 79053 HGNC:23161 ENSG00000159063 ALG8 alpha-1,3-glucosyltransferase ALG8 """ALG8, alpha-1,3-glucosyltransferase"", ""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase""" MGC2840 Yes No Comparative Toxicogenomics Database:79053, Ensembl:ENSG00000159063, GeneCard:ALG8, HGNC:HGNC:23161, HumanCyc Gene:HS08352, ModBase:Q9BVK2, NCBI Gene:79053, OMIM:608103, OMIM:608104, RefSeq DNA:NG_008926, RefSeq DNA:NT_167190, RefSeq Protein:NP_001007028, RefSeq Protein:NP_076984, RefSeq RNA:NM_001007027, RefSeq RNA:NM_024079, UniProtKB:A6NDW6, UniProtKB:Q9BVK2 No chr11 77811988 77850699 78100942 78139660 +PA134887582 79796 HGNC:15672 ENSG00000086848 ALG9 alpha-1,2-mannosyltransferase ALG9 """ALG9, alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase""" DIBD1 Yes No Comparative Toxicogenomics Database:79796, Ensembl:ENSG00000086848, GeneCard:ALG9, HGNC:HGNC:15672, HumanCyc Gene:HS12291, ModBase:Q9H6U8, NCBI Gene:79796, OMIM:606941, OMIM:608776, RefSeq DNA:NG_009210, RefSeq DNA:NT_033899, RefSeq Protein:NP_001071158, RefSeq Protein:NP_001071159, RefSeq Protein:NP_001071160, RefSeq Protein:NP_079016, RefSeq RNA:NM_001077690, RefSeq RNA:NM_001077691, RefSeq RNA:NM_001077692, RefSeq RNA:NM_024740, UniProtKB:Q9H6U8 No chr11 111652919 111742305 111776096 111871581 +PA24719 238 HGNC:427 ENSG00000171094 ALK receptor tyrosine kinase ALK anaplastic lymphoma receptor tyrosine kinase ALK1, CD246 Yes Yes Comparative Toxicogenomics Database:238, Ensembl:ENSG00000171094, GenAtlas:ALK, GeneCard:ALK, HGNC:HGNC:427, HumanCyc Gene:HS10239, NCBI Gene:238, OMIM:105590, OMIM:256700, OMIM:613014, RefSeq DNA:NG_009445, RefSeq DNA:NT_022184, RefSeq Protein:NP_004295, RefSeq RNA:NM_004304, UCSC Genome Browser:NM_004304, UniProtKB:Q9UM73 No chr2 29415640 30144477 29192774 29921611 +PA162386433 389658 HGNC:33775 ENSG00000196711 ALK and LTK ligand 1 ALKAL1 """augmentor-beta"", ""family with sequence similarity 150, member A""" AUGB, FAM150A, UNQ9433 Yes No Ensembl:ENSG00000196711, GeneCard:FAM150A, HGNC:HGNC:33775, NCBI Gene:389658, RefSeq DNA:NT_008183, RefSeq Protein:NP_997296, RefSeq RNA:NM_207413, UniProtKB:Q6UXT8 No chr8 53446597 53478021 52534037 52565461 +PA162386448 285016 HGNC:27683 ENSG00000189292 ALK and LTK ligand 2 ALKAL2 """augmentor-alpha"", ""family with sequence similarity 150, member B""" AUGA, FAM150B Yes No Ensembl:ENSG00000189292, GeneCard:FAM150B, HGNC:HGNC:27683, NCBI Gene:285016, RefSeq DNA:NT_022221, RefSeq Protein:NP_001002919, RefSeq RNA:NM_001002919, UniProtKB:Q6UX46 No chr2 279561 289002 279558 288873 +PA134906996 8846 HGNC:17911 ENSG00000100601 alkB homolog 1, histone H2A dioxygenase ALKBH1 alkB, alkylation repair homolog 1 (E. coli) ABH, ALKBH, alkB, hABH Yes No Ensembl:ENSG00000100601, GeneCard:ALKBH1, HGNC:HGNC:17911, HumanCyc Gene:HS02120, ModBase:Q13686, NCBI Gene:8846, OMIM:605345, RefSeq DNA:NT_026437, RefSeq Protein:NP_006011, RefSeq RNA:NM_006020, UniProtKB:Q13686, UniProtKB:Q5XKL0 No chr14 78138749 78174365 77672404 77708038 +PA143485292 121642 HGNC:32487 ENSG00000189046 alkB homolog 2, alpha-ketoglutarate dependent dioxygenase ALKBH2 alkB, alkylation repair homolog 2 (E. coli) ABH2, MGC90512 Yes No Comparative Toxicogenomics Database:121642, Ensembl:ENSG00000189046, GeneCard:ALKBH2, HGNC:HGNC:32487, ModBase:Q6NS38, NCBI Gene:121642, OMIM:610602, RefSeq DNA:NT_009775, RefSeq Protein:NP_001001655, RefSeq Protein:NP_001138846, RefSeq Protein:NP_001138847, RefSeq Protein:NP_001192108, RefSeq Protein:NP_001192109, RefSeq RNA:NM_001001655, RefSeq RNA:NM_001145374, RefSeq RNA:NM_001145375, RefSeq RNA:NM_001205179, RefSeq RNA:NM_001205180, RefSeq RNA:NR_026930, RefSeq RNA:NR_026931, UniProtKB:Q6NS38 No chr12 109525993 109531436 109088188 109093631 +PA143485293 221120 HGNC:30141 ENSG00000166199 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase ALKBH3 """alkB homolog 3, alpha-ketoglutaratedependent dioxygenase"", ""alkB, alkylation repair homolog 3 (E. coli)""" DEPC-1 Yes No Ensembl:ENSG00000166199, GeneCard:ALKBH3, HGNC:HGNC:30141, HumanCyc Gene:HS15415, ModBase:Q96Q83, NCBI Gene:221120, OMIM:610603, RefSeq DNA:NT_009237, RefSeq Protein:NP_631917, RefSeq RNA:NM_139178, UniProtKB:Q96Q83 No chr11 43902357 43941825 43880807 43920275 +PA143485294 54784 HGNC:21900 ENSG00000160993 alkB homolog 4, lysine demethylase ALKBH4 alkB, alkylation repair homolog 4 (E. coli) FLJ20013 Yes No Comparative Toxicogenomics Database:54784, Ensembl:ENSG00000160993, GeneCard:ALKBH4, HGNC:HGNC:21900, HumanCyc Gene:HS14842, ModBase:Q9NXW9, NCBI Gene:54784, OMIM:613302, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_060091, RefSeq RNA:NM_017621, UniProtKB:Q9NXW9 No chr7 102096667 102105321 102456220 102464874 +PA142671230 54890 HGNC:25996 ENSG00000091542 alkB homolog 5, RNA demethylase ALKBH5 """AlkB family member 5, RNA demethylase"", ""alkB, alkylation repair homolog 5 (E. coli)""" FLJ20308, OFOXD1 Yes No Comparative Toxicogenomics Database:54890, Ensembl:ENSG00000091542, GeneCard:ALKBH5, HGNC:HGNC:25996, HumanCyc Gene:HS12338, ModBase:Q6P6C2, NCBI Gene:54890, OMIM:613303, RefSeq DNA:NT_010718, RefSeq Protein:NP_060228, RefSeq RNA:NM_017758, UniProtKB:Q6P6C2 No chr17 18086867 18113268 18183553 18209954 +PA143485295 84964 HGNC:28243 ENSG00000239382 alkB homolog 6 ALKBH6 alkB, alkylation repair homolog 6 (E. coli) MGC15677 Yes No Comparative Toxicogenomics Database:84964, Ensembl:ENSG00000239382, GeneCard:ALKBH6, HGNC:HGNC:28243, NCBI Gene:84964, OMIM:613304, RefSeq DNA:NT_011109, RefSeq Protein:NP_116267, RefSeq Protein:NP_942567, RefSeq RNA:NM_032878, RefSeq RNA:NM_198867, UniProtKB:Q3KRA9 No chr19 36500022 36505145 36009116 36014243 +PA134905040 84266 HGNC:21306 ENSG00000125652 alkB homolog 7 ALKBH7 alkB, alkylation repair homolog 7 (E. coli) MGC10974, SPATA11 Yes No Comparative Toxicogenomics Database:84266, Ensembl:ENSG00000125652, GeneCard:ALKBH7, HGNC:HGNC:21306, HumanCyc Gene:HS13172, ModBase:Q9BT30, NCBI Gene:84266, OMIM:613305, RefSeq DNA:NT_011255, RefSeq Protein:NP_115682, RefSeq RNA:NM_032306, UniProtKB:Q9BT30 No chr19 6372444 6375261 6372433 6375250 +PA143485296 91801 HGNC:25189 ENSG00000137760 alkB homolog 8, tRNA methyltransferase ALKBH8 """alkB, alkylation repair homolog 8 (E. coli)"", ""tRNA methyltransferase 9 related""" MGC10235, TRM9, TRMT9A Yes No Ensembl:ENSG00000137760, GeneCard:ALKBH8, HGNC:HGNC:25189, HumanCyc Gene:HS06390, ModBase:Q96BT7, NCBI Gene:91801, OMIM:613306, RefSeq DNA:NT_033899, RefSeq Protein:NP_620130, RefSeq RNA:NM_138775, UniProtKB:Q96BT7 No chr11 107373453 107436468 107502726 107565740 +PA24720 55821 HGNC:17377 ENSG00000151360 allantoicase ALLC ALC Yes No Ensembl:ENSG00000151360, GenAtlas:ALLC, GeneCard:ALLC, HGNC:HGNC:17377, HumanCyc Gene:HS14364, ModBase:Q8N6M5, NCBI Gene:55821, OMIM:612396, RefSeq DNA:NT_022139, RefSeq Protein:NP_060906, RefSeq RNA:NM_018436, UCSC Genome Browser:NM_018436, UniProtKB:B4DY77, UniProtKB:Q8N6M5 No chr2 3705786 3750261 3645368 3702671 +PA24721 7840 HGNC:428 ENSG00000116127 ALMS1 centrosome and basal body associated protein ALMS1 """ALMS1, centrosome and basal body associated protein"", ""Alstrom syndrome 1""" KIAA0328 Yes No Comparative Toxicogenomics Database:7840, Ensembl:ENSG00000116127, GenAtlas:ALMS1, GeneCard:ALMS1, HGNC:HGNC:428, HumanCyc Gene:HS12858, NCBI Gene:7840, OMIM:203800, OMIM:606844, RefSeq DNA:NG_011690, RefSeq DNA:NT_022184, RefSeq Protein:NP_055935, RefSeq RNA:NM_015120, UCSC Genome Browser:NM_015120, UniProtKB:Q8TCU4 No chr2 73612886 73837047 73385758 73609919 +PA45 239 HGNC:429 ENSG00000108839 arachidonate 12-lipoxygenase, 12S type ALOX12 """Arachidonate 12-lipoxygenase, 12S-type"", ""arachidonate 12-lipoxygenase"", ""platelet 12-LOX""" 12S-LOX Yes Yes Comparative Toxicogenomics Database:239, Ensembl:ENSG00000108839, GenAtlas:ALOX12, GeneCard:ALOX12, HGNC:HGNC:429, HumanCyc Gene:HS03167, ModBase:P18054, NCBI Gene:239, OMIM:152391, RefSeq DNA:NT_010718, RefSeq Protein:NP_000688, RefSeq RNA:NM_000697, UCSC Genome Browser:NM_000697, UniProtKB:P18054 No chr17 6899384 6914055 6993791 7010736 +PA24722 242 HGNC:430 ENSG00000179477 arachidonate 12-lipoxygenase, 12R type ALOX12B 12R-lipoxygenase 12R-LOX Yes No Comparative Toxicogenomics Database:242, Ensembl:ENSG00000179477, GenAtlas:ALOX12B, GeneCard:ALOX12B, HGNC:HGNC:430, HumanCyc Gene:HS11390, ModBase:O75342, NCBI Gene:242, OMIM:242100, OMIM:603741, RefSeq DNA:NG_007099, RefSeq DNA:NT_010718, RefSeq Protein:NP_001130, RefSeq RNA:NM_001139, UCSC Genome Browser:NM_001139, UniProtKB:O75342 No chr17 7975954 7991021 8072636 8087703 +PA24723 243 HGNC:431 ENSG00000264958 arachidonate 12-lipoxygenase pseudogene 1 ALOX12P1 Yes No Ensembl:ENSG00000264958, GenAtlas:ALOX12P1, GeneCard:ALOX12P1, HGNC:HGNC:431, NCBI Gene:243, RefSeq DNA:NG_000844, RefSeq DNA:NT_010799 No chr17 28856691 28869451 30529673 30542433 +PA24724 245 HGNC:432 ENSG00000262943 arachidonate 12-lipoxygenase pseudogene 2 ALOX12P2 Yes No Ensembl:ENSG00000262943, GenAtlas:ALOX12P2, GeneCard:ALOX12P2, HGNC:HGNC:432, NCBI Gene:245, RefSeq DNA:NT_010718, RefSeq RNA:NR_002710 No chr17 6756895 6803668 6853576 6900349 +PA48 246 HGNC:433 ENSG00000161905 arachidonate 15-lipoxygenase ALOX15 15-LOX-1 Yes Yes Comparative Toxicogenomics Database:246, Ensembl:ENSG00000161905, GenAtlas:ALOX15, GeneCard:ALOX15, HGNC:HGNC:433, HumanCyc Gene:HS08621, ModBase:P16050, NCBI Gene:246, OMIM:152392, RefSeq DNA:NT_010718, RefSeq Protein:NP_001131, RefSeq RNA:NM_001140, UCSC Genome Browser:NM_001140, UniProtKB:P16050 No chr17 4534214 4545583 4630919 4641665 +PA24725 247 HGNC:434 ENSG00000179593 arachidonate 15-lipoxygenase type B ALOX15B arachidonate 15-lipoxygenase, type B 15-LOX-2 Yes No Comparative Toxicogenomics Database:247, Ensembl:ENSG00000179593, GenAtlas:ALOX15B, GeneCard:ALOX15B, HGNC:HGNC:434, HumanCyc Gene:HS10063, HumanCyc Gene:HS11395, ModBase:O15296, NCBI Gene:247, OMIM:603697, RefSeq DNA:NT_010718, RefSeq Protein:NP_001034219, RefSeq Protein:NP_001034220, RefSeq Protein:NP_001132, RefSeq RNA:NM_001039130, RefSeq RNA:NM_001039131, RefSeq RNA:NM_001141, UCSC Genome Browser:NM_001141, UniProtKB:O15296 No chr17 7942343 7952452 8039040 8049134 +PA24726 100652883 HGNC:13742 ENSG00000274114 arachidonate 15-lipoxygenase pseudogene 1 ALOX15P1 Yes No Ensembl:ENSG00000274114, GenAtlas:ALOX15P, GeneCard:ALOX15P, HGNC:HGNC:13742, NCBI Gene:100652883, RefSeq DNA:NG_009476, RefSeq DNA:NT_010718 No chr17 6561038 6564701 6657719 6661382 +PA46 240 HGNC:435 ENSG00000012779 arachidonate 5-lipoxygenase ALOX5 5-LOX Yes Yes Comparative Toxicogenomics Database:240, Ensembl:ENSG00000012779, GenAtlas:ALOX5, GeneCard:ALOX5, HGNC:HGNC:435, HumanCyc Gene:HS00336, ModBase:P09917, NCBI Gene:240, OMIM:152390, OMIM:600807, RefSeq DNA:NG_011437, RefSeq DNA:NT_033985, RefSeq Protein:NP_000689, RefSeq RNA:NM_000698, UCSC Genome Browser:NM_000698, UniProtKB:P09917 No chr10 45869624 45941569 45374166 45446121 +PA47 241 HGNC:436 ENSG00000132965 arachidonate 5-lipoxygenase activating protein ALOX5AP MK-886-binding protein, arachidonate 5-lipoxygenase-activating protein, five-lipoxygenase activating protein FLAP Yes Yes Comparative Toxicogenomics Database:241, Ensembl:ENSG00000132965, GenAtlas:ALOX5AP, GeneCard:ALOX5AP, HGNC:HGNC:436, HumanCyc Gene:HS05714, ModBase:P20292, NCBI Gene:241, OMIM:601367, OMIM:603700, RefSeq DNA:NG_011963, RefSeq DNA:NT_024524, RefSeq Protein:NP_001191335, RefSeq Protein:NP_001620, RefSeq RNA:NM_001204406, RefSeq RNA:NM_001629, UCSC Genome Browser:NM_001629, UniProtKB:P20292 No chr13 31287615 31338565 30713478 30764428 +PA24727 59344 HGNC:13743 ENSG00000179148 arachidonate epidermal lipoxygenase 3 ALOXE3 Epidermal lipoxygenase-3, arachidonate lipoxygenase 3, hydroperoxide isomerase, hydroperoxy icosatetraenoate dehydratase, hydroperoxy icosatetraenoate isomerase E-LOX, eLOX3 Yes No Comparative Toxicogenomics Database:59344, Ensembl:ENSG00000179148, GenAtlas:ALOXE3, GeneCard:ALOXE3, HGNC:HGNC:13743, HumanCyc Gene:HS11356, ModBase:Q9BYJ1, NCBI Gene:59344, OMIM:242100, OMIM:607206, RefSeq DNA:NG_015807, RefSeq DNA:NT_010718, RefSeq Protein:NP_001159432, RefSeq Protein:NP_067641, RefSeq RNA:NM_001165960, RefSeq RNA:NM_021628, UCSC Genome Browser:NM_021628, UniProtKB:B7Z3W0, UniProtKB:Q9BYJ1 No chr17 7999218 8022365 8095900 8118916 +PA24731 251 HGNC:441 ENSG00000163286 alkaline phosphatase, germ cell ALPG """alkaline phosphatase, placental-like 2"", ""germ cell alkaline phosphatase""" ALPPL2, GCAP Yes No Comparative Toxicogenomics Database:251, Ensembl:ENSG00000163286, GenAtlas:ALPPL2, GeneCard:ALPPL2, HGNC:HGNC:441, HumanCyc Gene:HS08820, ModBase:P10696, NCBI Gene:251, OMIM:171810, RefSeq DNA:NT_005403, RefSeq Protein:NP_112603, RefSeq RNA:NM_031313, UCSC Genome Browser:NM_031313, UniProtKB:P10696 No chr2 233271552 233275424 232406842 232410714 +PA24728 248 HGNC:437 ENSG00000163295 alkaline phosphatase, intestinal ALPI intestinal alkaline phosphatase IAP Yes No Comparative Toxicogenomics Database:248, Ensembl:ENSG00000163295, GenAtlas:ALPI, GeneCard:ALPI, HGNC:HGNC:437, HumanCyc Gene:HS08822, ModBase:P09923, NCBI Gene:248, OMIM:171740, RefSeq DNA:NT_005403, RefSeq Protein:NP_001622, RefSeq RNA:NM_001631, UCSC Genome Browser:NM_001631, UniProtKB:P09923 No chr2 233320833 233325455 232456112 232460745 +PA134891785 80216 HGNC:20917 ENSG00000073331 alpha kinase 1 ALPK1 alpha-kinase 1, lymphocyte alpha-kinase FLJ22670, KIAA1527, Lak Yes No Ensembl:ENSG00000073331, GeneCard:ALPK1, HGNC:HGNC:20917, HumanCyc Gene:HS01102, ModBase:Q96QP1, NCBI Gene:80216, OMIM:607347, RefSeq DNA:NT_016354, RefSeq Protein:NP_001095876, RefSeq Protein:NP_079420, RefSeq RNA:NM_001102406, RefSeq RNA:NM_025144, UniProtKB:Q96QP1 No chr4 113218480 113363774 112286420 112442618 +PA134916108 115701 HGNC:20565 ENSG00000198796 alpha kinase 2 ALPK2 alpha-kinase 2, heart alpha-kinase HAK Yes No Ensembl:ENSG00000198796, GeneCard:ALPK2, HGNC:HGNC:20565, ModBase:Q86TB3, NCBI Gene:115701, RefSeq DNA:NT_025028, RefSeq Protein:NP_443179, RefSeq RNA:NM_052947, UniProtKB:Q86TB3 No chr18 56148479 56296189 58481247 58629192 +PA134921552 57538 HGNC:17574 ENSG00000136383 alpha kinase 3 ALPK3 alpha-kinase 3, muscle alpha-kinase, myocyte induction differentiation originator KIAA1330, MAK, Midori Yes No Ensembl:ENSG00000136383, GeneCard:ALPK3, HGNC:HGNC:17574, HumanCyc Gene:HS06156, ModBase:Q96L96, NCBI Gene:57538, RefSeq DNA:NT_010274, RefSeq Protein:NP_065829, RefSeq RNA:NM_020778, UniProtKB:Q96L96 No chr15 85359911 85416713 84816631 84873482 +PA24729 249 HGNC:438 ENSG00000162551 alkaline phosphatase, biomineralization associated ALPL """alkaline phosphatase, liver/bone/kidney"", ""tissue non-specific alkaline phosphatase""" HOPS, TNALP, TNAP, TNSALP Yes Yes Comparative Toxicogenomics Database:249, Ensembl:ENSG00000162551, GenAtlas:ALPL, GeneCard:ALPL, HGNC:HGNC:438, HumanCyc Gene:HS08691, ModBase:Q6NZI8, NCBI Gene:249, OMIM:146300, OMIM:171760, OMIM:241500, OMIM:241510, RefSeq DNA:NG_008940, RefSeq DNA:NT_004610, RefSeq Protein:NP_000469, RefSeq Protein:NP_001120973, RefSeq Protein:NP_001170991, RefSeq RNA:NM_000478, RefSeq RNA:NM_001127501, RefSeq RNA:NM_001177520, UCSC Genome Browser:NM_000478, UniProtKB:B7Z387, UniProtKB:B7Z4Y6, UniProtKB:P05186 No chr1 21835475 21904905 21508982 21578412 +PA24730 250 HGNC:439 ENSG00000163283 alkaline phosphatase, placental ALPP Regan isozyme, placental alkaline phosphatase PALP, PLAP Yes No Comparative Toxicogenomics Database:250, Ensembl:ENSG00000163283, GenAtlas:ALPP, GeneCard:ALPP, HGNC:HGNC:439, HumanCyc Gene:HS08818, NCBI Gene:250, OMIM:171800, RefSeq DNA:NG_012189, RefSeq DNA:NT_005403, RefSeq Protein:NP_001623, RefSeq RNA:NM_001632, UCSC Genome Browser:NM_001632, UniProtKB:P05187 No chr2 233243348 233247599 232378534 232382889 +PA38373 260330 HGNC:14016 alkaline phosphatase, pseudogene ALPPP Yes No GenAtlas:ALPPP, GeneCard:ALPPP, HGNC:HGNC:14016, NCBI Gene:260330 No chr2 +PA24732 57679 HGNC:443 ENSG00000003393 alsin Rho guanine nucleotide exchange factor ALS2 ALS2 """ALS2, alsin Rho guanine nucleotide exchange factor"", ""alsin"", ""amyotrophic lateral sclerosis 2 (juvenile)""" ALS2CR6 Yes No Comparative Toxicogenomics Database:57679, Ensembl:ENSG00000003393, GenAtlas:ALS2, GeneCard:ALS2, HGNC:HGNC:443, HumanCyc Gene:HS11992, ModBase:Q96Q42, NCBI Gene:57679, OMIM:205100, OMIM:606352, OMIM:606353, OMIM:607225, RefSeq DNA:NG_008775, RefSeq DNA:NT_005403, RefSeq Protein:NP_001129217, RefSeq Protein:NP_065970, RefSeq RNA:NM_001135745, RefSeq RNA:NM_020919, UCSC Genome Browser:NM_020919, UniProtKB:A8K4R4, UniProtKB:Q96Q42 No chr2 202564986 202645895 201700263 201781172 +PA134949717 259173 HGNC:20605 ENSG00000178038 ALS2 C-terminal like ALS2CL DKFZp686I0110, FLJ36525, RN49018 Yes No Ensembl:ENSG00000178038, GeneCard:ALS2CL, HGNC:HGNC:20605, ModBase:Q60I27, NCBI Gene:259173, OMIM:612402, RefSeq DNA:NT_022517, RefSeq Protein:NP_001177636, RefSeq Protein:NP_667340, RefSeq Protein:NP_877576, RefSeq RNA:NM_001190707, RefSeq RNA:NM_147129, RefSeq RNA:NM_182775, RefSeq RNA:NR_033815, UniProtKB:Q60I27, UniProtKB:Q8NAL7 No chr3 46710485 46735194 46668995 46693713 +PA162376294 8092 HGNC:1494 ENSG00000180318 ALX homeobox 1 ALX1 CART1 Yes No Ensembl:ENSG00000180318, GeneCard:ALX1, HGNC:HGNC:1494, HumanCyc Gene:HS11483, ModBase:Q15699, NCBI Gene:8092, OMIM:601527, OMIM:613456, RefSeq DNA:NG_023202, RefSeq DNA:NT_029419, RefSeq Protein:NP_008913, RefSeq RNA:NM_006982, UniProtKB:Q15699 No chr12 85673713 85695562 85280258 85301784 +PA24754 257 HGNC:449 ENSG00000156150 ALX homeobox 3 ALX3 FND Yes No Ensembl:ENSG00000156150, GenAtlas:ALX3, GeneCard:ALX3, HGNC:HGNC:449, HumanCyc Gene:HS08102, ModBase:O95076, NCBI Gene:257, OMIM:136760, OMIM:606014, RefSeq DNA:NG_012039, RefSeq DNA:NT_032977, RefSeq Protein:NP_006483, RefSeq RNA:NM_006492, UCSC Genome Browser:NM_006492, UniProtKB:O95076 No chr1 110602997 110613322 110060375 110070700 +PA24755 60529 HGNC:450 ENSG00000052850 ALX homeobox 4 ALX4 FPP, KIAA1788, PFM, PFM2 Yes No Comparative Toxicogenomics Database:60529, Ensembl:ENSG00000052850, GenAtlas:ALX4, GeneCard:ALX4, HGNC:HGNC:450, HumanCyc Gene:HS00651, ModBase:Q9H161, NCBI Gene:60529, OMIM:168500, OMIM:605420, OMIM:609597, OMIM:613451, RefSeq DNA:NG_015809, RefSeq DNA:NT_009237, RefSeq Protein:NP_068745, RefSeq RNA:NM_021926, UCSC Genome Browser:NM_021926, UniProtKB:Q9H161 No chr11 44282278 44331735 44260728 44310166 +PA134925107 10189 HGNC:19071 ENSG00000183684 Aly/REF export factor ALYREF THO complex subunit 4 ALY, ALY/REF, BEF, REF, THOC4 Yes No Ensembl:ENSG00000183684, GeneCard:THOC4, HGNC:HGNC:19071, ModBase:Q86V81, NCBI Gene:10189, OMIM:604171, RefSeq DNA:NT_010663, RefSeq Protein:NP_005773, RefSeq RNA:NM_005782, UniProtKB:Q86V81 No chr17 79845711 79849464 81887835 81891622 +PA24757 23600 HGNC:451 ENSG00000242110 alpha-methylacyl-CoA racemase AMACR P504S, RACE Yes No Comparative Toxicogenomics Database:23600, Ensembl:ENSG00000242110, GenAtlas:AMACR, GeneCard:AMACR, HGNC:HGNC:451, HumanCyc Gene:HS01416, ModBase:Q9UHK6, NCBI Gene:23600, OMIM:214950, OMIM:604489, RefSeq DNA:NG_016211, RefSeq DNA:NT_006576, RefSeq Protein:NP_001161067, RefSeq Protein:NP_001161068, RefSeq Protein:NP_001161069, RefSeq Protein:NP_001161070, RefSeq Protein:NP_055139, RefSeq Protein:NP_976316, RefSeq RNA:NM_001167595, RefSeq RNA:NM_001167596, RefSeq RNA:NM_001167597, RefSeq RNA:NM_001167598, RefSeq RNA:NM_014324, RefSeq RNA:NM_203382, UCSC Genome Browser:NM_014324, UniProtKB:Q3KT79, UniProtKB:Q6VRU3, UniProtKB:Q9UHK6 No chr5 33987091 34008220 33986986 34008115 +PA24758 258 HGNC:452 ENSG00000178522 ameloblastin AMBN ameloblastin (enamel matrix protein), enamel matrix protein Yes No Ensembl:ENSG00000178522, GenAtlas:AMBN, GeneCard:AMBN, HGNC:HGNC:452, HumanCyc Gene:HS11292, ModBase:Q9NP70, NCBI Gene:258, OMIM:601259, RefSeq DNA:NT_022778, RefSeq Protein:NP_057603, RefSeq RNA:NM_016519, UCSC Genome Browser:NM_016519, UniProtKB:Q546D7, UniProtKB:Q9NP70 No chr4 71457975 71473005 70592258 70607288 +PA24759 259 HGNC:453 ENSG00000106927 alpha-1-microglobulin/bikunin precursor AMBP bikunin, complex-forming glycoprotein heterogeneous in charge, growth-inhibiting protein 19, inter-alpha-trypsin inhibitor light chain, protein HC, trypstatin, uristatin, uronic-acid-rich protein EDC1, HCP, HI30, IATIL, ITI, ITIL, ITILC, UTI Yes No Comparative Toxicogenomics Database:259, Ensembl:ENSG00000106927, GenAtlas:AMBP, GeneCard:AMBP, HGNC:HGNC:453, HumanCyc Gene:HS02961, ModBase:P02760, NCBI Gene:259, OMIM:176870, RefSeq DNA:NT_008470, RefSeq Protein:NP_001624, RefSeq RNA:NM_001633, UCSC Genome Browser:NM_001633, UniProtKB:P02760 No chr9 116822407 116840752 114060127 114078472 +PA162376307 55626 HGNC:25990 ENSG00000110497 autophagy and beclin 1 regulator 1 AMBRA1 DDB1 and CUL4 associated factor 3, WD repeat domain 94, autophagy/beclin-1 regulator 1 DCAF3, FLJ20294, KIAA1736, WDR94 Yes No Ensembl:ENSG00000110497, GeneCard:AMBRA1, HGNC:HGNC:25990, HumanCyc Gene:HS03317, NCBI Gene:55626, OMIM:611359, RefSeq DNA:NT_009237, RefSeq Protein:NP_060219, RefSeq RNA:NM_017749, UniProtKB:Q9C0C7 No chr11 46417962 46615619 46396412 46594069 +PA24763 262 HGNC:457 ENSG00000123505 adenosylmethionine decarboxylase 1 AMD1 SAMDC Yes No Comparative Toxicogenomics Database:262, Ensembl:ENSG00000123505, GenAtlas:AMD1, GeneCard:AMD1, HGNC:HGNC:457, HumanCyc Gene:HS04667, ModBase:P17707, NCBI Gene:262, OMIM:180980, RefSeq DNA:NT_025741, RefSeq Protein:NP_001028231, RefSeq Protein:NP_001625, RefSeq RNA:NM_001033059, RefSeq RNA:NM_001634, UCSC Genome Browser:NM_001634, UniProtKB:P17707, UniProtKB:Q5VXN4 No chr6 111135823 111216916 110814621 110895713 +PA143485297 144193 HGNC:28577 ENSG00000139344 amidohydrolase domain containing 1 AMDHD1 MGC35366 Yes No Comparative Toxicogenomics Database:144193, Ensembl:ENSG00000139344, GeneCard:AMDHD1, HGNC:HGNC:28577, HumanCyc Gene:HS06611, ModBase:Q96NU7, NCBI Gene:144193, RefSeq DNA:NT_029419, RefSeq Protein:NP_689648, RefSeq RNA:NM_152435, UniProtKB:B3KVC5, UniProtKB:Q96NU7 No chr12 96337071 96362370 95943293 95968592 +PA143485298 51005 HGNC:24262 ENSG00000162066 amidohydrolase domain containing 2 AMDHD2 N-acetylglucosamine-6-phosphate deacetylase CGI-14 Yes No Comparative Toxicogenomics Database:51005, Ensembl:ENSG00000162066, GeneCard:AMDHD2, HGNC:HGNC:24262, HumanCyc Gene:HS08639, NCBI Gene:51005, RefSeq DNA:NT_010393, RefSeq Protein:NP_001139287, RefSeq Protein:NP_057028, RefSeq RNA:NM_001145815, RefSeq RNA:NM_015944, UniProtKB:Q9Y303 No chr16 2570363 2580955 2520351 2531414 +PA24766 265 HGNC:461 ENSG00000125363 amelogenin X-linked AMELX """amelogenesis imperfecta 1"", ""amelogenin, X-linked""" AIH1, AMG Yes No Comparative Toxicogenomics Database:265, Ensembl:ENSG00000125363, GenAtlas:AMELX, GeneCard:AMELX, HGNC:HGNC:461, HumanCyc Gene:HS04876, ModBase:Q99217, NCBI Gene:265, OMIM:300391, OMIM:301200, RefSeq DNA:NG_012040, RefSeq DNA:NT_167197, RefSeq Protein:NP_001133, RefSeq Protein:NP_872621, RefSeq Protein:NP_872622, RefSeq RNA:NM_001142, RefSeq RNA:NM_182680, RefSeq RNA:NM_182681, UCSC Genome Browser:NM_001142, UniProtKB:Q99217 No chrX 11311533 11318881 11293413 11300761 +PA24767 266 HGNC:462 ENSG00000099721 amelogenin Y-linked AMELY amelogenin, Y-linked AMGL Yes No Ensembl:ENSG00000099721, GenAtlas:AMELY, GeneCard:AMELY, HGNC:HGNC:462, HumanCyc Gene:HS01903, NCBI Gene:266, OMIM:410000, RefSeq DNA:NG_008011, RefSeq DNA:NT_011896, RefSeq Protein:NP_001134, RefSeq RNA:NM_001143, UCSC Genome Browser:NM_001143, UniProtKB:Q99218 No chrY 6733959 6742068 6865918 6874056 +PA145148904 139285 HGNC:26837 ENSG00000184675 APC membrane recruitment protein 1 AMER1 Wilms Tumor on the X, adenomatous polyposis coli membrane recruitment 1 FAM123B, FLJ39827, RP11-403E24.2, WTX Yes No Ensembl:ENSG00000184675, GeneCard:FAM123B, HGNC:HGNC:26837, ModBase:Q5JTC6, NCBI Gene:139285, OMIM:300373, OMIM:300647, RefSeq DNA:NG_021345, RefSeq DNA:NT_011669, RefSeq Protein:NP_689637, RefSeq RNA:NM_152424, UniProtKB:Q5JTC6 No chrX 63404997 63425624 64185117 64205744 +PA145148898 219287 HGNC:26360 ENSG00000165566 APC membrane recruitment protein 2 AMER2 FAM123A, FLJ25477 Yes No Ensembl:ENSG00000165566, GeneCard:FAM123A, HGNC:HGNC:26360, HumanCyc Gene:HS15340, NCBI Gene:219287, RefSeq DNA:NT_024524, RefSeq Protein:NP_689917, RefSeq Protein:NP_954589, RefSeq RNA:NM_152704, RefSeq RNA:NM_199138, UniProtKB:Q8N7J2 No chr13 25735817 25746426 25161679 25172456 +PA162385791 205147 HGNC:26771 ENSG00000178171 APC membrane recruitment protein 3 AMER3 FAM123C, FLJ38377 Yes No Ensembl:ENSG00000178171, GeneCard:FAM123C, HGNC:HGNC:26771, HumanCyc Gene:HS17007, NCBI Gene:205147, RefSeq DNA:NT_022135, RefSeq Protein:NP_001098663, RefSeq Protein:NP_001098664, RefSeq Protein:NP_001098665, RefSeq Protein:NP_689911, RefSeq RNA:NM_001105193, RefSeq RNA:NM_001105194, RefSeq RNA:NM_001105195, RefSeq RNA:NM_152698, UniProtKB:Q8N944 No chr2 131513077 131525707 130754475 130768134 +PA24768 267 HGNC:463 ENSG00000159461 autocrine motility factor receptor AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase RNF45, gp78 Yes No Ensembl:ENSG00000159461, GenAtlas:AMFR, GeneCard:AMFR, HGNC:HGNC:463, HumanCyc Gene:HS08406, ModBase:Q9UKV5, NCBI Gene:267, OMIM:603243, RefSeq DNA:NT_010498, RefSeq Protein:NP_001135, RefSeq RNA:NM_001144, UCSC Genome Browser:NM_001144, UniProtKB:Q9UKV5 No chr16 56395364 56459450 56361452 56425538 +PA24769 268 HGNC:464 ENSG00000104899 anti-Mullerian hormone AMH Muellerian-inhibiting factor, Muellerian-inhibiting substance MIF, MIS Yes No Comparative Toxicogenomics Database:268, Ensembl:ENSG00000104899, GenAtlas:AMH, GeneCard:AMH, HGNC:HGNC:464, HumanCyc Gene:HS02649, NCBI Gene:268, OMIM:261550, OMIM:600957, RefSeq DNA:NG_012190, RefSeq DNA:NT_011255, RefSeq Protein:NP_000470, RefSeq RNA:NM_000479, UCSC Genome Browser:NM_000479, UniProtKB:Q6GTN3 No chr19 2249113 2252072 2249114 2252073 +PA24770 269 HGNC:465 ENSG00000135409 anti-Mullerian hormone receptor type 2 AMHR2 """Muellerian inhibiting substance type II receptor"", ""anti-Mullerian hormone receptor, type II""" MISR2, MISRII Yes Yes Comparative Toxicogenomics Database:269, Ensembl:ENSG00000135409, GenAtlas:AMHR2, GeneCard:AMHR2, HGNC:HGNC:465, HumanCyc Gene:HS05999, ModBase:Q16671, NCBI Gene:269, OMIM:261550, OMIM:600956, RefSeq DNA:NG_015981, RefSeq DNA:NT_029419, RefSeq Protein:NP_001158162, RefSeq Protein:NP_001158163, RefSeq Protein:NP_065434, RefSeq RNA:NM_001164690, RefSeq RNA:NM_001164691, RefSeq RNA:NM_020547, UCSC Genome Browser:NM_020547, UniProtKB:Q16671, UniProtKB:Q647K2 No chr12 53817594 53825439 53423855 53431672 +PA142672625 57463 HGNC:20824 ENSG00000181754 adhesion molecule with Ig like domain 1 AMIGO1 adhesion molecule with Ig-like domain 1, amphoterin-induced gene and open reading frame AMIGO, KIAA1163 Yes No Comparative Toxicogenomics Database:57463, Ensembl:ENSG00000181754, GeneCard:AMIGO1, HGNC:HGNC:20824, ModBase:Q86WK6, NCBI Gene:57463, RefSeq DNA:NT_032977, RefSeq Protein:NP_065754, RefSeq RNA:NM_020703, UniProtKB:Q86WK6 No chr1 110049446 110052336 109504178 109509742 +PA142672626 347902 HGNC:24073 ENSG00000139211 adhesion molecule with Ig like domain 2 AMIGO2 adhesion molecule with Ig-like domain 2, amphoterin-induced gene and open reading frame 2 ALI1, DEGA Yes No Comparative Toxicogenomics Database:347902, Ensembl:ENSG00000139211, GeneCard:AMIGO2, HGNC:HGNC:24073, ModBase:Q86SJ2, NCBI Gene:347902, RefSeq DNA:NT_029419, RefSeq Protein:NP_001137140, RefSeq Protein:NP_862830, RefSeq RNA:NM_001143668, RefSeq RNA:NM_181847, UniProtKB:Q86SJ2 No chr12 47469490 47473734 47075707 47080826 +PA142672627 386724 HGNC:24075 ENSG00000176020 adhesion molecule with Ig like domain 3 AMIGO3 adhesion molecule with Ig-like domain 3, amphoterin-induced gene and open reading frame 3 Yes No Comparative Toxicogenomics Database:386724, Ensembl:ENSG00000176020, GeneCard:AMIGO3, HGNC:HGNC:24075, ModBase:Q86WK7, NCBI Gene:386724, RefSeq DNA:NT_022517, RefSeq Protein:NP_942015, RefSeq RNA:NM_198722, UniProtKB:Q86WK7 No chr3 49754267 49757238 49716834 49719805 +PA24771 9163 HGNC:466 acute myeloid leukemia chromosome region 2 AMLCR2 Yes No Comparative Toxicogenomics Database:9163, GenAtlas:AMLCR2, GeneCard:AMLCR2, HGNC:HGNC:466, NCBI Gene:9163, OMIM:601626, OMIM:602439 No chr16 +PA24772 9949 HGNC:467 ENSG00000101935 AMMECR nuclear protein 1 AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 Yes No Comparative Toxicogenomics Database:9949, Ensembl:ENSG00000101935, GenAtlas:AMMECR1, GeneCard:AMMECR1, HGNC:HGNC:467, HumanCyc Gene:HS02320, ModBase:Q9Y4X0, NCBI Gene:9949, OMIM:300194, OMIM:300195, RefSeq DNA:NG_016469, RefSeq DNA:NT_011651, RefSeq Protein:NP_001020751, RefSeq Protein:NP_001165160, RefSeq Protein:NP_056180, RefSeq RNA:NM_001025580, RefSeq RNA:NM_001171689, RefSeq RNA:NM_015365, UCSC Genome Browser:NM_015365, UniProtKB:Q5JYV9, UniProtKB:Q9Y4X0 No chrX 109437414 109683461 110194186 110440233 +PA162376350 83607 HGNC:28658 ENSG00000144233 AMMECR1 like AMMECR1L AMMECR1-like MGC4268 Yes No Ensembl:ENSG00000144233, GeneCard:AMMECR1L, HGNC:HGNC:28658, ModBase:Q6DCA0, NCBI Gene:83607, RefSeq DNA:NT_022135, RefSeq Protein:NP_001186069, RefSeq Protein:NP_113633, RefSeq RNA:NM_001199140, RefSeq RNA:NM_031445, UniProtKB:Q6DCA0 No chr2 128619204 128643635 127861630 127886408 +PA134962814 81693 HGNC:14604 ENSG00000166126 amnion associated transmembrane protein AMN amnionless Yes No Comparative Toxicogenomics Database:81693, Ensembl:ENSG00000166126, GeneCard:AMN, HGNC:HGNC:14604, HumanCyc Gene:HS15405, NCBI Gene:81693, OMIM:261100, OMIM:605799, RefSeq DNA:NG_008276, RefSeq DNA:NT_026437, RefSeq Protein:NP_112205, RefSeq RNA:NM_030943, UniProtKB:Q9BXJ7 No chr14 103388993 103397179 102922430 102930842 +PA162376371 196394 HGNC:27281 ENSG00000151743 antagonist of mitotic exit network 1 homolog AMN1 antagonist of mitotic exit network 1 homolog (S. cerevisiae) Yes No Ensembl:ENSG00000151743, GeneCard:AMN1, HGNC:HGNC:27281, NCBI Gene:196394, RefSeq DNA:NT_009714, RefSeq Protein:NP_001106873, RefSeq RNA:NM_001113402, RefSeq RNA:NR_004854, UniProtKB:Q8IY45 No chr12 31824071 31882108 31671137 31729178 +PA24773 154796 HGNC:17810 ENSG00000126016 angiomotin AMOT KIAA1071 Yes No Comparative Toxicogenomics Database:154796, Ensembl:ENSG00000126016, GenAtlas:AMOT, GeneCard:AMOT, HGNC:HGNC:17810, HumanCyc Gene:HS13195, NCBI Gene:154796, OMIM:300410, RefSeq DNA:NG_012628, RefSeq DNA:NT_011651, RefSeq Protein:NP_001106962, RefSeq Protein:NP_573572, RefSeq RNA:NM_001113490, RefSeq RNA:NM_133265, UCSC Genome Browser:NM_133265, UniProtKB:Q4VCS5 No chrX 112018105 112084136 112774877 112840946 +PA24774 154810 HGNC:17811 ENSG00000166025 angiomotin like 1 AMOTL1 junction-enriched and associated protein JEAP Yes No Ensembl:ENSG00000166025, GenAtlas:AMOTL1, GeneCard:AMOTL1, HGNC:HGNC:17811, HumanCyc Gene:HS15396, ModBase:Q8IY63, NCBI Gene:154810, RefSeq DNA:NT_167190, RefSeq Protein:NP_570899, RefSeq RNA:NM_130847, UCSC Genome Browser:NM_130847, UniProtKB:Q8IY63 No chr11 94439602 94609918 94706418 94876753 +PA24775 51421 HGNC:17812 ENSG00000114019 angiomotin like 2 AMOTL2 Leman coiled-coil protein, angiomotin-like protein 2 LCCP Yes No Comparative Toxicogenomics Database:51421, Ensembl:ENSG00000114019, GenAtlas:AMOTL2, GeneCard:AMOTL2, HGNC:HGNC:17812, HumanCyc Gene:HS12808, NCBI Gene:51421, RefSeq DNA:NT_005612, RefSeq Protein:NP_057285, RefSeq RNA:NM_016201, UCSC Genome Browser:NM_016201, UniProtKB:Q9Y2J4 No chr3 134074187 134094321 134355345 134375417 +PA24776 270 HGNC:468 ENSG00000116748 adenosine monophosphate deaminase 1 AMPD1 AMPD isoform M, myoadenylate deaminase, skeletal muscle AMPD MAD, MADA Yes Yes Comparative Toxicogenomics Database:270, Ensembl:ENSG00000116748, GenAtlas:AMPD1, GeneCard:AMPD1, HGNC:HGNC:468, HumanCyc Gene:HS04046, ModBase:P23109, NCBI Gene:270, OMIM:102770, RefSeq DNA:NG_008012, RefSeq DNA:NT_032977, RefSeq Protein:NP_000027, RefSeq Protein:NP_001166097, RefSeq RNA:NM_000036, RefSeq RNA:NM_001172626, UCSC Genome Browser:NM_000036, UniProtKB:B2RAM1, UniProtKB:P23109, UniProtKB:Q5TF02 No chr1 115215719 115238239 114673098 114695618 +PA24777 271 HGNC:469 ENSG00000116337 adenosine monophosphate deaminase 2 AMPD2 AMPD isoform L SPG63 Yes No Comparative Toxicogenomics Database:271, Ensembl:ENSG00000116337, GenAtlas:AMPD2, GeneCard:AMPD2, HGNC:HGNC:469, HumanCyc Gene:HS04008, ModBase:Q9UDX8, NCBI Gene:271, OMIM:102771, RefSeq DNA:NT_032977, RefSeq Protein:NP_004028, RefSeq Protein:NP_631895, RefSeq Protein:NP_981949, RefSeq RNA:NM_004037, RefSeq RNA:NM_139156, RefSeq RNA:NM_203404, UCSC Genome Browser:NM_004037, UniProtKB:Q01433 No chr1 110162435 110174677 109619813 109632055 +PA24778 272 HGNC:470 ENSG00000133805 adenosine monophosphate deaminase 3 AMPD3 erythrocyte-specific AMP deaminase Yes No Comparative Toxicogenomics Database:272, Ensembl:ENSG00000133805, GenAtlas:AMPD3, GeneCard:AMPD3, HGNC:HGNC:470, HumanCyc Gene:HS05789, ModBase:Q01432, NCBI Gene:272, OMIM:102772, OMIM:612874, RefSeq DNA:NG_012041, RefSeq DNA:NT_009237, RefSeq Protein:NP_000471, RefSeq Protein:NP_001020560, RefSeq Protein:NP_001020561, RefSeq Protein:NP_001165901, RefSeq Protein:NP_001165902, RefSeq RNA:NM_000480, RefSeq RNA:NM_001025389, RefSeq RNA:NM_001025390, RefSeq RNA:NM_001172430, RefSeq RNA:NM_001172431, UCSC Genome Browser:NM_000480, UniProtKB:A0AUX0, UniProtKB:B7Z2S2, UniProtKB:B7Z763, UniProtKB:Q01432 No chr11 10471846 10529126 10450321 10507579 +PA24779 273 HGNC:471 ENSG00000078053 amphiphysin AMPH Yes Yes Comparative Toxicogenomics Database:273, Ensembl:ENSG00000078053, GenAtlas:AMPH, GeneCard:AMPH, HGNC:HGNC:471, HumanCyc Gene:HS01267, ModBase:P49418, NCBI Gene:273, OMIM:600418, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001626, RefSeq Protein:NP_647477, RefSeq RNA:NM_001635, RefSeq RNA:NM_139316, UCSC Genome Browser:NM_001635, UniProtKB:P49418 No chr7 38423297 38671167 38383694 38631567 +PA24780 275 HGNC:473 ENSG00000145020 aminomethyltransferase AMT glycine cleavage system protein T, nonketotic hyperglycinemia GCST, NKH Yes No Comparative Toxicogenomics Database:275, Ensembl:ENSG00000145020, GenAtlas:AMT, GeneCard:AMT, HGNC:HGNC:473, HumanCyc Gene:HS07223, ModBase:P48728, NCBI Gene:275, OMIM:238310, OMIM:605899, RefSeq DNA:NG_015986, RefSeq DNA:NT_022517, RefSeq Protein:NP_000472, RefSeq Protein:NP_001158182, RefSeq Protein:NP_001158183, RefSeq Protein:NP_001158184, RefSeq RNA:NM_000481, RefSeq RNA:NM_001164710, RefSeq RNA:NM_001164711, RefSeq RNA:NM_001164712, RefSeq RNA:NR_028435, UCSC Genome Browser:NM_000481, UniProtKB:B4DE61, UniProtKB:B4DJQ0, UniProtKB:P48728, UniProtKB:Q96IG6 No chr3 49454211 49460111 49416778 49422678 +PA162376390 401138 HGNC:33188 ENSG00000187689 amelotin AMTN RSTI689, UNQ689 Yes No Ensembl:ENSG00000187689, GeneCard:AMTN, HGNC:HGNC:33188, ModBase:Q6UX39, NCBI Gene:401138, OMIM:610912, RefSeq DNA:NT_022778, RefSeq Protein:NP_997722, RefSeq RNA:NM_212557, UniProtKB:Q6UX39 No chr4 71384298 71398460 70518572 70532743 +PA24781 276 HGNC:474 ENSG00000174876, ENSG00000187733, ENSG00000237763 amylase alpha 1A AMY1A """amylase alpha 1A (salivary)"", ""amylase, alpha 1A (salivary)""" AMY1 Yes No Comparative Toxicogenomics Database:276, Ensembl:ENSG00000174876, Ensembl:ENSG00000187733, Ensembl:ENSG00000237763, GenAtlas:AMY1A, GeneCard:AMY1A, HGNC:HGNC:474, HumanCyc Gene:HS10839, HumanCyc Gene:HS10840, NCBI Gene:276, OMIM:104700, RefSeq DNA:NG_004750, RefSeq DNA:NT_032977, RefSeq Protein:NP_001008222, RefSeq Protein:NP_004029, RefSeq RNA:NM_001008221, RefSeq RNA:NM_004038, UCSC Genome Browser:NM_004038, UniProtKB:Q6NSB3 No chr1 104193695 104207174 103655519 103664551 +PA24782 277 HGNC:475 ENSG00000174876 amylase alpha 1B AMY1B """amylase alpha 1B (salivary)"", ""amylase, alpha 1B (salivary)""" AMY1 Yes No Ensembl:ENSG00000174876, GenAtlas:AMY1B, GeneCard:AMY1B, HGNC:HGNC:475, NCBI Gene:277, OMIM:104701, RefSeq DNA:NG_004750, RefSeq DNA:NT_032977, RefSeq Protein:NP_001008219, RefSeq RNA:NM_001008218 No chr1 104230039 104243519 103687415 103696452 +PA24783 278 HGNC:476 ENSG00000187733 amylase alpha 1C AMY1C """amylase alpha 1C (salivary)"", ""amylase, alpha 1C (salivary)""" AMY1 Yes No Ensembl:ENSG00000187733, GenAtlas:AMY1C, GeneCard:AMY1C, HGNC:HGNC:476, NCBI Gene:278, OMIM:104702, RefSeq DNA:NG_004750, RefSeq DNA:NT_032977, RefSeq Protein:NP_001008220, RefSeq RNA:NM_001008219, UniProtKB:P04745 No chr1 104287833 104301312 103745430 103758692 +PA24784 279 HGNC:477 ENSG00000243480 amylase alpha 2A AMY2A """amylase alpha 2A (pancreatic)"", ""amylase, alpha 2A (pancreatic)""" AMY2 Yes No Comparative Toxicogenomics Database:279, Ensembl:ENSG00000243480, GenAtlas:AMY2A, GeneCard:AMY2A, HGNC:HGNC:477, HumanCyc Gene:HS10841, ModBase:P04746, NCBI Gene:279, OMIM:104650, RefSeq DNA:NG_004750, RefSeq DNA:NT_032977, RefSeq Protein:NP_000690, RefSeq RNA:NM_000699, UCSC Genome Browser:NM_000699, UniProtKB:P04746 No chr1 104159999 104168400 103617332 103625780 +PA24785 280 HGNC:478 ENSG00000240038 amylase alpha 2B AMY2B """amylase alpha 2B (pancreatic)"", ""amylase, alpha 2B (pancreatic)""" AMY2 Yes No Comparative Toxicogenomics Database:280, Ensembl:ENSG00000240038, GenAtlas:AMY2B, GeneCard:AMY2B, HGNC:HGNC:478, HumanCyc Gene:HS00645, ModBase:P19961, NCBI Gene:280, OMIM:104660, RefSeq DNA:NG_004750, RefSeq DNA:NT_032977, RefSeq Protein:NP_066188, RefSeq RNA:NM_020978, UCSC Genome Browser:NM_020978, UniProtKB:P19961 No chr1 104095894 104122156 103554644 103579534 +PA24786 281 HGNC:479 ENSG00000227408 amylase, alpha pseudogene 1 AMYP1 Yes No Ensembl:ENSG00000227408, GenAtlas:AMYP1, GeneCard:AMYP1, HGNC:HGNC:479, NCBI Gene:281, RefSeq DNA:NG_004750, RefSeq DNA:NT_032977 No chr1 104256342 104262511 103713720 103719905 +PA162376413 155185 HGNC:22231 ENSG00000174945 archaelysin family metallopeptidase 1 AMZ1 archaemetzincin-1 KIAA1950 Yes No Ensembl:ENSG00000174945, GeneCard:AMZ1, HGNC:HGNC:22231, ModBase:Q400G9, NCBI Gene:155185, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_597720, RefSeq RNA:NM_133463, UniProtKB:A4D202, UniProtKB:Q400G9 No chr7 2719163 2755069 2679522 2767486 +PA162376414 51321 HGNC:28041 ENSG00000196704 archaelysin family metallopeptidase 2 AMZ2 archaemetzincin-2 Yes No Ensembl:ENSG00000196704, GeneCard:AMZ2, HGNC:HGNC:28041, NCBI Gene:51321, RefSeq DNA:NT_010783, RefSeq Protein:NP_001028741, RefSeq Protein:NP_001028742, RefSeq Protein:NP_001028743, RefSeq Protein:NP_001028744, RefSeq Protein:NP_001028746, RefSeq Protein:NP_057711, RefSeq RNA:NM_001033569, RefSeq RNA:NM_001033570, RefSeq RNA:NM_001033571, RefSeq RNA:NM_001033572, RefSeq RNA:NM_001033574, RefSeq RNA:NM_016627, UniProtKB:A6NLD9, UniProtKB:Q86W34 No chr17 66202127 66253305 68205486 68257164 +PA134907013 64682 HGNC:19988 ENSG00000153107 anaphase promoting complex subunit 1 ANAPC1 APC1, MCPR, TSG24 Yes No Comparative Toxicogenomics Database:64682, Ensembl:ENSG00000153107, GeneCard:ANAPC1, HGNC:HGNC:19988, HumanCyc Gene:HS14456, ModBase:Q9H1A4, NCBI Gene:64682, OMIM:608473, RefSeq DNA:NT_022135, RefSeq Protein:NP_073153, RefSeq RNA:NM_022662, UniProtKB:Q9H1A4 No chr2 112525214 112641765 111766147 111884196 +PA134938672 10393 HGNC:24077 ENSG00000164162 anaphase promoting complex subunit 10 ANAPC10 APC10, DKFZP564L0562, DOC1 Yes No Comparative Toxicogenomics Database:10393, Ensembl:ENSG00000164162, GeneCard:ANAPC10, HGNC:HGNC:24077, HumanCyc Gene:HS09028, ModBase:Q9UM13, NCBI Gene:10393, RefSeq DNA:NT_016354, RefSeq Protein:NP_055700, RefSeq RNA:NM_014885, UniProtKB:Q9UM13 No chr4 145915727 146019693 144967117 145098541 +PA24787 51529 HGNC:14452 ENSG00000141552 anaphase promoting complex subunit 11 ANAPC11 APC11, Apc11p, HSPC214, MGC882 Yes No Comparative Toxicogenomics Database:51529, Ensembl:ENSG00000141552, GenAtlas:ANAPC11, GeneCard:ANAPC11, HGNC:HGNC:14452, HumanCyc Gene:HS13891, ModBase:Q9NYG5, NCBI Gene:51529, RefSeq DNA:NT_010663, RefSeq Protein:NP_001002244, RefSeq Protein:NP_001002245, RefSeq Protein:NP_001002246, RefSeq Protein:NP_001002247, RefSeq Protein:NP_001002248, RefSeq Protein:NP_001002249, RefSeq Protein:NP_057560, RefSeq RNA:NM_001002244, RefSeq RNA:NM_001002245, RefSeq RNA:NM_001002246, RefSeq RNA:NM_001002247, RefSeq RNA:NM_001002248, RefSeq RNA:NM_001002249, RefSeq RNA:NM_016476, UCSC Genome Browser:NM_016476, UniProtKB:Q9NYG5 No chr17 79849599 79858363 81890790 81900533 +PA134949652 25847 HGNC:24540 ENSG00000129055 anaphase promoting complex subunit 13 ANAPC13 APC13, DKFZP566D193, SWM1 Yes No Comparative Toxicogenomics Database:25847, Ensembl:ENSG00000129055, GeneCard:ANAPC13, HGNC:HGNC:24540, NCBI Gene:25847, RefSeq DNA:NT_005612, RefSeq Protein:NP_001229303, RefSeq Protein:NP_001229304, RefSeq Protein:NP_056206, RefSeq RNA:NM_001242374, RefSeq RNA:NM_001242375, RefSeq RNA:NM_015391, RefSeq RNA:NR_024400, RefSeq RNA:NR_024401, UniProtKB:A8K3Z6, UniProtKB:Q9BS18 No chr3 134196546 134204865 134477704 134486023 +PA143485346 25906 HGNC:24531 ENSG00000110200 anaphase promoting complex subunit 15 ANAPC15 APC15, C11orf51, DKFZP564M082, HSPC020 Yes No Ensembl:ENSG00000110200, GeneCard:C11orf51, HGNC:HGNC:24531, HumanCyc Gene:HS12717, ModBase:P60006, NCBI Gene:25906, RefSeq DNA:NT_167190, RefSeq Protein:NP_054761, RefSeq RNA:NM_014042, UniProtKB:P60006 No chr11 71820633 71823822 72106254 72112793 +PA165548225 119504 HGNC:26976 ENSG00000166295 anaphase promoting complex subunit 16 ANAPC16 centromere protein 27 APC16, C10orf104, CENP-27, FLJ33728, bA570G20.3 Yes No Ensembl:ENSG00000166295, GeneCard:ANAPC16, HGNC:HGNC:26976, HumanCyc Gene:HS15425, NCBI Gene:119504, OMIM:613427, RefSeq DNA:NT_008583, RefSeq DNA:NT_030059, RefSeq Protein:NP_001229475, RefSeq Protein:NP_001229476, RefSeq Protein:NP_001229477, RefSeq Protein:NP_775744, RefSeq RNA:NM_001242546, RefSeq RNA:NM_001242547, RefSeq RNA:NM_001242548, RefSeq RNA:NM_173473, RefSeq RNA:NR_038391, RefSeq RNA:NR_038392, UniProtKB:C5H3H2, UniProtKB:Q96DE5 No chr10 73975758 73995618 72216000 72235860 +PA134884359 29882 HGNC:19989 ENSG00000176248 anaphase promoting complex subunit 2 ANAPC2 APC2, KIAA1406 Yes No Comparative Toxicogenomics Database:29882, Ensembl:ENSG00000176248, GeneCard:ANAPC2, HGNC:HGNC:19989, HumanCyc Gene:HS11025, ModBase:Q9UJX6, NCBI Gene:29882, OMIM:606946, RefSeq DNA:NT_024000, RefSeq Protein:NP_037498, RefSeq RNA:NM_013366, UniProtKB:Q9UJX6 No chr9 140069236 140083057 137174784 137188605 +PA134894250 29945 HGNC:19990 ENSG00000053900 anaphase promoting complex subunit 4 ANAPC4 APC4 Yes No Comparative Toxicogenomics Database:29945, Ensembl:ENSG00000053900, GeneCard:ANAPC4, HGNC:HGNC:19990, HumanCyc Gene:HS00661, ModBase:Q9UJX5, NCBI Gene:29945, OMIM:606947, RefSeq DNA:NT_006316, RefSeq Protein:NP_037499, RefSeq RNA:NM_013367, UniProtKB:Q9UJX5 No chr4 25378848 25420120 25377226 25418498 +PA24788 51433 HGNC:15713 ENSG00000089053 anaphase promoting complex subunit 5 ANAPC5 APC5 Yes No Comparative Toxicogenomics Database:51433, Ensembl:ENSG00000089053, GenAtlas:ANAPC5, GeneCard:ANAPC5, HGNC:HGNC:15713, HumanCyc Gene:HS01628, ModBase:Q9UJX4, NCBI Gene:51433, OMIM:606948, RefSeq DNA:NT_009775, RefSeq Protein:NP_001131031, RefSeq Protein:NP_057321, RefSeq RNA:NM_001137559, RefSeq RNA:NM_016237, UCSC Genome Browser:NM_016237, UniProtKB:Q9UJX4 No chr12 121746048 121792012 121308245 121354209 +PA134901290 51434 HGNC:17380 ENSG00000196510 anaphase promoting complex subunit 7 ANAPC7 APC7 Yes No Comparative Toxicogenomics Database:51434, Ensembl:ENSG00000196510, GeneCard:ANAPC7, HGNC:HGNC:17380, ModBase:Q9UJX3, NCBI Gene:51434, OMIM:606949, RefSeq DNA:NT_009775, RefSeq Protein:NP_001131136, RefSeq Protein:NP_057322, RefSeq RNA:NM_001137664, RefSeq RNA:NM_016238, UniProtKB:Q4KMX6, UniProtKB:Q69YV3, UniProtKB:Q9UJX3 No chr12 110810705 110841535 110372900 110403730 +PA24789 282 HGNC:482 Angelman syndrome chromosome region ANCR Yes No Comparative Toxicogenomics Database:282, GenAtlas:ANCR, GeneCard:ANCR, HGNC:HGNC:482, NCBI Gene:282, OMIM:105830 No chr15 +PA24790 283 HGNC:483 ENSG00000214274 angiogenin ANG """Homo sapiens epididymis luminal protein 168"", ""angiogenin, ribonuclease, RNase A family, 5"", ""ribonuclease A family member 5""" HEL168, RAA1, RNASE5 Yes No Comparative Toxicogenomics Database:283, Ensembl:ENSG00000214274, GenAtlas:ANG, GeneCard:ANG, HGNC:HGNC:483, HumanCyc Gene:HS09945, ModBase:P03950, NCBI Gene:283, OMIM:105400, OMIM:105850, OMIM:611895, RefSeq DNA:NG_008717, RefSeq DNA:NT_026437, RefSeq Protein:NP_001091046, RefSeq Protein:NP_001136, RefSeq RNA:NM_001097577, RefSeq RNA:NM_001145, UCSC Genome Browser:NM_001145, UniProtKB:P03950, UniProtKB:Q53X86 No chr14 21152336 21162345 20684177 20694186 +PA134982299 23357 HGNC:19961 ENSG00000013523 angel homolog 1 ANGEL1 angel homolog 1 (Drosophila) Ccr4e, KIAA0759 Yes No Ensembl:ENSG00000013523, GeneCard:ANGEL1, HGNC:HGNC:19961, HumanCyc Gene:HS12050, ModBase:Q9UNK9, NCBI Gene:23357, RefSeq DNA:NT_026437, RefSeq Protein:NP_056120, RefSeq RNA:NM_015305, UniProtKB:Q9UNK9 No chr14 77248076 77292606 76786473 76812947 +PA142672620 90806 HGNC:30534 ENSG00000174606 angel homolog 2 ANGEL2 angel homolog 2 (Drosophila) Ccr4d, FLJ12793, KIAA0759L Yes No Comparative Toxicogenomics Database:90806, Ensembl:ENSG00000174606, GeneCard:ANGEL2, HGNC:HGNC:30534, HumanCyc Gene:HS16372, ModBase:Q5VTE6, NCBI Gene:90806, RefSeq DNA:NT_167186, RefSeq Protein:NP_653168, RefSeq RNA:NM_144567, UniProtKB:Q5VTE6, UniProtKB:Q96AL9 No chr1 213165524 213189168 212992182 213015875 +PA24791 284 HGNC:484 ENSG00000154188 angiopoietin 1 ANGPT1 AGPT-1, Ang1, KIAA0003 Yes Yes Comparative Toxicogenomics Database:284, Ensembl:ENSG00000154188, GenAtlas:ANGPT1, GeneCard:ANGPT1, HGNC:HGNC:484, HumanCyc Gene:HS07958, ModBase:Q15389, NCBI Gene:284, OMIM:601667, RefSeq DNA:NT_008046, RefSeq Protein:NP_001137, RefSeq Protein:NP_001186788, RefSeq RNA:NM_001146, RefSeq RNA:NM_001199859, UCSC Genome Browser:NM_001146, UniProtKB:Q15389, UniProtKB:Q5HYA0 No chr8 108261710 108510254 107249482 107498055 +PA24792 285 HGNC:485 ENSG00000091879 angiopoietin 2 ANGPT2 Ang2 Yes Yes Comparative Toxicogenomics Database:285, Ensembl:ENSG00000091879, GenAtlas:ANGPT2, GeneCard:ANGPT2, HGNC:HGNC:485, HumanCyc Gene:HS01748, ModBase:O15123, NCBI Gene:285, OMIM:601922, RefSeq DNA:NT_023736, RefSeq Protein:NP_001112359, RefSeq Protein:NP_001112360, RefSeq Protein:NP_001138, RefSeq RNA:NM_001118887, RefSeq RNA:NM_001118888, RefSeq RNA:NM_001147, UCSC Genome Browser:NM_001147, UniProtKB:B7ZLM7, UniProtKB:O15123 No chr8 6357172 6420784 6499651 6563420 +PA24793 51378 HGNC:487 ENSG00000101280 angiopoietin 4 ANGPT4 Yes No Ensembl:ENSG00000101280, GenAtlas:ANGPT4, GeneCard:ANGPT4, HGNC:HGNC:487, HumanCyc Gene:HS02231, ModBase:Q9Y264, NCBI Gene:51378, OMIM:603705, RefSeq DNA:NT_011387, RefSeq Protein:NP_057069, RefSeq RNA:NM_015985, UCSC Genome Browser:NM_015985, UniProtKB:Q9Y264 No chr20 852763 896977 869899 916367 +PA24794 9068 HGNC:489 ENSG00000116194 angiopoietin like 1 ANGPTL1 angioarrestin, angiopoietin-like 1 ANG3, ANGPT3, ARP1, AngY Yes No Ensembl:ENSG00000116194, GenAtlas:ANGPTL1, GeneCard:ANGPTL1, HGNC:HGNC:489, HumanCyc Gene:HS03995, ModBase:O95841, NCBI Gene:9068, OMIM:603874, RefSeq DNA:NT_004487, RefSeq Protein:NP_004664, RefSeq RNA:NM_004673, UCSC Genome Browser:NM_004673, UniProtKB:O95841 No chr1 178818670 178840215 178849535 178871353 +PA24795 23452 HGNC:490 ENSG00000136859 angiopoietin like 2 ANGPTL2 angiopoietin-like 2 ARP2, HARP Yes No Comparative Toxicogenomics Database:23452, Ensembl:ENSG00000136859, GenAtlas:ANGPTL2, GeneCard:ANGPTL2, HGNC:HGNC:490, HumanCyc Gene:HS06227, ModBase:Q9UKU9, NCBI Gene:23452, OMIM:605001, RefSeq DNA:NT_008470, RefSeq Protein:NP_036230, RefSeq RNA:NM_012098, UCSC Genome Browser:NM_012098, UniProtKB:Q8NCH7, UniProtKB:Q9UKU9 No chr9 129849628 129885044 127087349 127122803 +PA24796 27329 HGNC:491 ENSG00000132855 angiopoietin like 3 ANGPTL3 angiopoietin 5, angiopoietin-like 3 ANGPT5 Yes No Comparative Toxicogenomics Database:27329, Ensembl:ENSG00000132855, GenAtlas:ANGPTL3, GeneCard:ANGPTL3, HGNC:HGNC:491, HumanCyc Gene:HS05700, ModBase:Q9Y5C1, NCBI Gene:27329, OMIM:604774, RefSeq DNA:NT_032977, RefSeq Protein:NP_055310, RefSeq RNA:NM_014495, UCSC Genome Browser:NM_014495, UniProtKB:B1ALJ0, UniProtKB:Q9Y5C1 No chr1 63063158 63071976 62597487 62606305 +PA24797 51129 HGNC:16039 ENSG00000167772 angiopoietin like 4 ANGPTL4 PPARG angiopoietin related protein, angiopoietin-like 4, angiopoietin-related protein 4, fasting-induced adipose factor, hepatic angiopoietin-related protein, hepatic fibrinogen/angiopoietin-related protein, peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein ARP4, FIAF, HFARP, NL2, PGAR, pp1158 Yes Yes Comparative Toxicogenomics Database:51129, Ensembl:ENSG00000167772, GenAtlas:ANGPTL4, GeneCard:ANGPTL4, HGNC:HGNC:16039, HumanCyc Gene:HS09631, ModBase:Q9BY76, NCBI Gene:51129, OMIM:605910, RefSeq DNA:NG_012169, RefSeq DNA:NT_077812, RefSeq Protein:NP_001034756, RefSeq Protein:NP_647475, RefSeq RNA:NM_001039667, RefSeq RNA:NM_139314, UCSC Genome Browser:NM_016109, UniProtKB:A8MY84, UniProtKB:Q9BY76 No chr19 8429011 8439257 8364127 8374375 +PA134944139 253935 HGNC:19705 ENSG00000187151 angiopoietin like 5 ANGPTL5 angiopoietin-like 5 Yes No Ensembl:ENSG00000187151, GeneCard:ANGPTL5, HGNC:HGNC:19705, ModBase:Q86XS5, NCBI Gene:253935, OMIM:607666, RefSeq DNA:NT_033899, RefSeq Protein:NP_835228, RefSeq RNA:NM_178127, UniProtKB:Q86XS5 No chr11 101761405 101787253 101890674 101916522 +PA134950669 83854 HGNC:23140 ENSG00000130812 angiopoietin like 6 ANGPTL6 angiopoietin-like 6, angiopoietin-related protein 5 AGF, ARP5 Yes No Comparative Toxicogenomics Database:83854, Ensembl:ENSG00000130812, GeneCard:ANGPTL6, HGNC:HGNC:23140, HumanCyc Gene:HS13355, ModBase:Q8NI99, NCBI Gene:83854, OMIM:609336, RefSeq DNA:NT_011295, RefSeq Protein:NP_114123, RefSeq RNA:NM_031917, UniProtKB:Q8NI99 No chr19 10203013 10215710 10092337 10106194 +PA134959516 10218 HGNC:24078 ENSG00000171819 angiopoietin like 7 ANGPTL7 angiopoietin-like 7 AngX, CDT6 Yes No Comparative Toxicogenomics Database:10218, Ensembl:ENSG00000171819, GeneCard:ANGPTL7, HGNC:HGNC:24078, HumanCyc Gene:HS10390, ModBase:O43827, NCBI Gene:10218, RefSeq DNA:NT_021937, RefSeq Protein:NP_066969, RefSeq RNA:NM_021146, UniProtKB:O43827 No chr1 11249346 11256038 11189289 11195981 +PA166048965 55908 HGNC:24933 ENSG00000130173 angiopoietin like 8 ANGPTL8 betatrophin, chromosome 19 open reading frame 80, lipasin ANGPTL8, C19orf80, RIFL, TD26 Yes No Ensembl:ENSG00000130173, HGNC:HGNC:24933, NCBI Gene:55908 No chr19 11350295 11352619 11239619 11241943 +PA166049047 647589 HGNC:40024 ENSG00000227059 anomalous homeobox ANHX Yes No Ensembl:ENSG00000227059, HGNC:HGNC:40024, NCBI Gene:647589 No chr12 133794898 133812422 133218312 133236220 +PA24798 286 HGNC:492 ENSG00000029534 ankyrin 1 ANK1 ankyrin 1, erythrocytic ANK, SPH1 Yes No Comparative Toxicogenomics Database:286, Ensembl:ENSG00000029534, GenAtlas:ANK1, GeneCard:ANK1, HGNC:HGNC:492, HumanCyc Gene:HS00470, ModBase:P16157, NCBI Gene:286, OMIM:182900, OMIM:612641, RefSeq DNA:NG_012820, RefSeq DNA:NT_167187, RefSeq Protein:NP_000028, RefSeq Protein:NP_001135917, RefSeq Protein:NP_001135918, RefSeq Protein:NP_065208, RefSeq Protein:NP_065209, RefSeq Protein:NP_065210, RefSeq Protein:NP_065211, RefSeq Protein:NP_065213, RefSeq RNA:NM_000037, RefSeq RNA:NM_001142445, RefSeq RNA:NM_001142446, RefSeq RNA:NM_020475, RefSeq RNA:NM_020476, RefSeq RNA:NM_020477, RefSeq RNA:NM_020478, RefSeq RNA:NM_020480, UCSC Genome Browser:NM_000037, UniProtKB:A0PJN8, UniProtKB:B3KX39, UniProtKB:P16157, UniProtKB:Q53ER1 No chr8 41510744 41754280 41653225 41896762 +PA24799 287 HGNC:493 ENSG00000145362 ankyrin 2 ANK2 ankyrin 2, neuronal CFAP87, FAP87, LQT4 Yes No Comparative Toxicogenomics Database:287, Ensembl:ENSG00000145362, GenAtlas:ANK2, GeneCard:ANK2, HGNC:HGNC:493, HumanCyc Gene:HS07248, ModBase:Q01484, NCBI Gene:287, OMIM:106410, OMIM:600919, RefSeq DNA:NG_009006, RefSeq DNA:NT_016354, RefSeq Protein:NP_001120965, RefSeq Protein:NP_001139, RefSeq Protein:NP_066187, RefSeq RNA:NM_001127493, RefSeq RNA:NM_001148, RefSeq RNA:NM_020977, UCSC Genome Browser:NM_001148, UniProtKB:Q01484 No chr4 113739239 114304896 112706083 113383740 +PA24800 288 HGNC:494 ENSG00000151150 ankyrin 3 ANK3 """ankyrin 3, node of Ranvier (ankyrin G)"", ""ankyrin-3, node of Ranvier"", ""ankyrin-G""" Yes Yes Comparative Toxicogenomics Database:288, Ensembl:ENSG00000151150, GenAtlas:ANK3, GeneCard:ANK3, HGNC:HGNC:494, HumanCyc Gene:HS07711, ModBase:Q12955, NCBI Gene:288, OMIM:600465, RefSeq DNA:NT_030059, RefSeq Protein:NP_001140, RefSeq Protein:NP_001191332, RefSeq Protein:NP_001191333, RefSeq Protein:NP_066267, RefSeq RNA:NM_001149, RefSeq RNA:NM_001204403, RefSeq RNA:NM_001204404, RefSeq RNA:NM_020987, UCSC Genome Browser:NM_001149, UniProtKB:B1AQT2, UniProtKB:Q12955, UniProtKB:Q9H0P5 No chr10 61786056 62493284 60026298 60733526 +PA145149868 150709 HGNC:26350 ENSG00000151687 ankyrin and armadillo repeat containing ANKAR FLJ25415 Yes No Ensembl:ENSG00000151687, GeneCard:ANKAR, HGNC:HGNC:26350, HumanCyc Gene:HS14380, ModBase:Q7Z5J8, NCBI Gene:150709, OMIM:609803, RefSeq DNA:NT_005403, RefSeq Protein:NP_653309, RefSeq RNA:NM_144708, UniProtKB:Q70AK8, UniProtKB:Q7Z5J8 No chr2 190539018 190625919 189674292 189763059 +PA143485299 348094 HGNC:28002 ENSG00000166839 ankyrin repeat and death domain containing 1A ANKDD1A FLJ25870 Yes No Ensembl:ENSG00000166839, GeneCard:ANKDD1A, HGNC:HGNC:28002, NCBI Gene:348094, RefSeq DNA:NT_010194, RefSeq Protein:NP_874362, RefSeq RNA:NM_182703, UniProtKB:Q495B1, UniProtKB:Q6PI29 No chr15 65204095 65251042 64911902 64958700 +PA143485300 728780 HGNC:32525 ENSG00000189045 ankyrin repeat and death domain containing 1B ANKDD1B Yes No Ensembl:ENSG00000189045, GeneCard:ANKDD1B, HGNC:HGNC:32525, NCBI Gene:728780, RefSeq DNA:NT_006713, RefSeq Protein:XP_001128459, RefSeq Protein:XP_001714535, RefSeq Protein:XP_001715685, RefSeq RNA:XM_001128459, RefSeq RNA:XM_001714483, RefSeq RNA:XM_001715633 No chr5 74907301 74967671 75611289 75671846 +PA24806 63926 HGNC:15803 ENSG00000132623 ankyrin repeat and EF-hand domain containing 1 ANKEF1 ANKRD5, FLJ21669, dJ839B4.6 Yes No Comparative Toxicogenomics Database:63926, Ensembl:ENSG00000132623, GenAtlas:ANKRD5, GeneCard:ANKRD5, HGNC:HGNC:15803, HumanCyc Gene:HS05663, ModBase:Q9NU02, NCBI Gene:63926, RefSeq DNA:NT_011387, RefSeq Protein:NP_071379, RefSeq Protein:NP_942093, RefSeq RNA:NM_022096, RefSeq RNA:NM_198798, UCSC Genome Browser:NM_022096, UniProtKB:Q9NU02 No chr20 10015697 10037407 10034999 10056764 +PA142672624 162282 HGNC:26766 ENSG00000153930 ankyrin repeat and fibronectin type III domain containing 1 ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 FLJ38335 Yes Yes Ensembl:ENSG00000153930, GeneCard:ANKFN1, HGNC:HGNC:26766, HumanCyc Gene:HS14495, ModBase:Q8N957, NCBI Gene:162282, RefSeq DNA:NT_010783, RefSeq Protein:NP_694960, RefSeq RNA:NM_153228, UniProtKB:Q8N957 No chr17 54230836 54560007 56110935 56517016 +PA134984226 51479 HGNC:20763 ENSG00000185722 ankyrin repeat and FYVE domain containing 1 ANKFY1 rabankyrin-5 ANKHZN, BTBD23, KIAA1255, RANK-5, ZFYVE14 Yes No Ensembl:ENSG00000185722, GeneCard:ANKFY1, HGNC:HGNC:20763, ModBase:Q9P2R3, NCBI Gene:51479, OMIM:607927, RefSeq DNA:NT_010718, RefSeq Protein:NP_057460, RefSeq Protein:NP_065791, RefSeq RNA:NM_016376, RefSeq RNA:NM_020740, UniProtKB:B3KPZ0, UniProtKB:Q5RKV4, UniProtKB:Q9P2R3 No chr17 4066665 4167274 4163371 4264026 +PA24801 56172 HGNC:15492 ENSG00000154122 ANKH inorganic pyrophosphate transport regulator ANKH """Mineralization regulator ANKH"", ""ankylosis, progressive homolog (mouse)"", ""solute carrier family 62, member 1""" ANK, CCAL2, CMDJ, CPPDD, HANK, SLC62A1 Yes No Comparative Toxicogenomics Database:56172, Ensembl:ENSG00000154122, GenAtlas:ANKH, GeneCard:ANKH, HGNC:HGNC:15492, HumanCyc Gene:HS07949, ModBase:Q9HCJ1, NCBI Gene:56172, OMIM:118600, OMIM:123000, OMIM:605145, RefSeq DNA:NG_008273, RefSeq DNA:NT_006576, RefSeq Protein:NP_473368, RefSeq RNA:NM_054027, UCSC Genome Browser:NM_019847, UCSC Genome Browser:NM_054027, UniProtKB:Q9HCJ1 No chr5 14704909 14871887 14704800 14871778 +PA134947858 54882 HGNC:24714 ENSG00000131503 ankyrin repeat and KH domain containing 1 ANKHD1 FLJ10042, FLJ11979, FLJ14127, FLJ20288, KIAA1085, MASK, MASK1 Yes No Comparative Toxicogenomics Database:54882, Ensembl:ENSG00000131503, GeneCard:ANKHD1, HGNC:HGNC:24714, ModBase:Q9UPR7, NCBI Gene:54882, OMIM:610500, RefSeq DNA:NT_029289, RefSeq Protein:NP_001183959, RefSeq Protein:NP_060217, RefSeq Protein:NP_060448, RefSeq Protein:NP_078944, RefSeq RNA:NM_001197030, RefSeq RNA:NM_017747, RefSeq RNA:NM_017978, RefSeq RNA:NM_024668, UniProtKB:Q7Z586, UniProtKB:Q8IWZ3 No chr5 139781399 139919441 140401814 140539856 +PA162376432 404734 HGNC:33530 ENSG00000254996 ANKHD1-EIF4EBP3 readthrough ANKHD1-EIF4EBP3 MASK-BP3 Yes No Ensembl:ENSG00000254996, GeneCard:ANKHD1-EIF4EBP3, HGNC:HGNC:33530, NCBI Gene:404734, RefSeq DNA:NT_029289, RefSeq Protein:NP_065741, RefSeq RNA:NM_020690, UniProtKB:Q8IWZ2 No chr5 139781399 139929163 140401814 140549578 +PA134941469 54467 HGNC:22215 ENSG00000001629 ankyrin repeat and IBR domain containing 1 ANKIB1 DKFZP434A0225, KIAA1386 Yes No Comparative Toxicogenomics Database:54467, Ensembl:ENSG00000001629, GeneCard:ANKIB1, HGNC:HGNC:22215, ModBase:Q9P2G1, NCBI Gene:54467, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_061877, RefSeq RNA:NM_019004, UniProtKB:Q9P2G1 No chr7 91875530 92030698 92246216 92401773 +PA134872551 255239 HGNC:21027 ENSG00000170209 ankyrin repeat and kinase domain containing 1 ANKK1 X-kinase Yes Yes Ensembl:ENSG00000170209, GeneCard:ANKK1, HGNC:HGNC:21027, ModBase:Q8NFD2, NCBI Gene:255239, OMIM:608774, RefSeq DNA:NG_012976, RefSeq DNA:NT_033899, RefSeq Protein:NP_848605, RefSeq RNA:NM_178510, UniProtKB:Q8NFD2 No chr11 113258513 113271140 113386014 113400418 +PA162376509 126549 HGNC:26812 ENSG00000160117 ankyrin repeat and LEM domain containing 1 ANKLE1 LEM domain containing 6 ANKRD41, FLJ39369, LEMD6 Yes No Ensembl:ENSG00000160117, GeneCard:ANKLE1, HGNC:HGNC:26812, ModBase:Q8NAG6, NCBI Gene:126549, RefSeq DNA:NT_011295, RefSeq Protein:NP_689576, RefSeq RNA:NM_152363, UniProtKB:A8VU82, UniProtKB:Q8NAG6 No chr19 17392454 17398455 17281645 17287646 +PA162376532 23141 HGNC:29101 ENSG00000176915 ankyrin repeat and LEM domain containing 2 ANKLE2 LEM domain containing 7, LEM-domain protein 4 KIAA0692, LEMD7, Lem4 Yes No Ensembl:ENSG00000176915, GeneCard:ANKLE2, HGNC:HGNC:29101, NCBI Gene:23141, RefSeq DNA:NT_024477, RefSeq Protein:NP_055929, RefSeq RNA:NM_015114, UniProtKB:B3KN97, UniProtKB:Q86XL3 No chr12 133302254 133338451 132725667 132761888 +PA134925670 51281 HGNC:20987 ENSG00000144504 ankyrin repeat and MYND domain containing 1 ANKMY1 FLJ20499, ZMYND13 Yes No Ensembl:ENSG00000144504, GeneCard:ANKMY1, HGNC:HGNC:20987, HumanCyc Gene:HS14030, ModBase:Q9P2S6, NCBI Gene:51281, RefSeq DNA:NT_005416, RefSeq Protein:NP_057636, RefSeq Protein:NP_060314, RefSeq RNA:NM_016552, RefSeq RNA:NM_017844, UniProtKB:Q4ZFV3, UniProtKB:Q9P2S6 No chr2 241418839 241500472 240468632 240561110 +PA134893861 57037 HGNC:25370 ENSG00000106524 ankyrin repeat and MYND domain containing 2 ANKMY2 DKFZP564O043, ZMYND20 Yes No Comparative Toxicogenomics Database:57037, Ensembl:ENSG00000106524, GeneCard:ANKMY2, HGNC:HGNC:25370, ModBase:Q8IV38, NCBI Gene:57037, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_064715, RefSeq RNA:NM_020319, UniProtKB:Q8IV38 No chr7 16639401 16685442 16599776 16645817 +PA24803 57763 HGNC:13208 ENSG00000164331 ankyrin repeat family A member 2 ANKRA2 ankyrin repeat, family A (RFXANK-like), 2 Yes No Comparative Toxicogenomics Database:57763, Ensembl:ENSG00000164331, GenAtlas:ANKRA2, GeneCard:ANKRA2, HGNC:HGNC:13208, HumanCyc Gene:HS09064, ModBase:Q9H9E1, NCBI Gene:57763, OMIM:605787, RefSeq DNA:NT_006713, RefSeq Protein:NP_075526, RefSeq RNA:NM_023039, UCSC Genome Browser:NM_023039, UniProtKB:Q9H9E1 No chr5 72848025 72861521 73552200 73565705 +PA134882768 27063 HGNC:15819 ENSG00000148677 ankyrin repeat domain 1 ANKRD1 ankyrin repeat domain 1 (cardiac muscle) ALRP, C-193, CARP, CVARP, MCARP Yes No Comparative Toxicogenomics Database:27063, Ensembl:ENSG00000148677, GeneCard:ANKRD1, HGNC:HGNC:15819, HumanCyc Gene:HS07549, ModBase:Q15327, NCBI Gene:27063, OMIM:609599, RefSeq DNA:NG_023227, RefSeq DNA:NT_030059, RefSeq Protein:NP_055206, RefSeq RNA:NM_014391, UniProtKB:Q15327 No chr10 92671857 92681032 90912100 90921275 +PA134911073 55608 HGNC:20265 ENSG00000088448 ankyrin repeat domain 10 ANKRD10 FLJ20093 Yes No Comparative Toxicogenomics Database:55608, Ensembl:ENSG00000088448, GeneCard:ANKRD10, HGNC:HGNC:20265, HumanCyc Gene:HS12306, ModBase:Q9NXR5, NCBI Gene:55608, RefSeq DNA:NT_009952, RefSeq Protein:NP_060134, RefSeq RNA:NM_017664, UniProtKB:Q9NXR5 No chr13 111530887 111567454 110878540 110915107 +PA134861925 29123 HGNC:21316 ENSG00000167522 ankyrin repeat domain containing 11 ANKRD11 ankyrin repeat domain 11, ankyrin repeats containing cofactor 1 ANCO-1, ANCO1, LZ16, T13 Yes No Comparative Toxicogenomics Database:29123, Ensembl:ENSG00000167522, GeneCard:ANKRD11, HGNC:HGNC:21316, HumanCyc Gene:HS15559, ModBase:Q6UB99, NCBI Gene:29123, OMIM:611192, RefSeq DNA:NT_010542, RefSeq Protein:NP_037407, RefSeq RNA:NM_013275, UniProtKB:Q6UB99, UniProtKB:Q8IVY9 No chr16 89334029 89556969 89267619 89490561 +PA134899860 23253 HGNC:29135 ENSG00000101745 ankyrin repeat domain 12 ANKRD12 ankyrin repeats containing cofactor 2 ANCO-2, FLJ20053, GAC-1, KIAA0874 Yes No Comparative Toxicogenomics Database:23253, Ensembl:ENSG00000101745, GeneCard:ANKRD12, HGNC:HGNC:29135, HumanCyc Gene:HS12463, ModBase:Q6UB98, NCBI Gene:23253, OMIM:610616, RefSeq DNA:NT_010859, RefSeq Protein:NP_001077094, RefSeq Protein:NP_001190985, RefSeq Protein:NP_056023, RefSeq RNA:NM_001083625, RefSeq RNA:NM_001204056, RefSeq RNA:NM_015208, UniProtKB:Q6PG48, UniProtKB:Q6UB98 No chr18 9136751 9285983 9136753 9285985 +PA134884324 88455 HGNC:21268 ENSG00000076513 ankyrin repeat domain 13A ANKRD13A ANKRD13, NY-REN-25 Yes No Ensembl:ENSG00000076513, GeneCard:ANKRD13A, HGNC:HGNC:21268, ModBase:Q8IZ07, NCBI Gene:88455, RefSeq DNA:NT_009775, RefSeq Protein:NP_149112, RefSeq RNA:NM_033121, UniProtKB:Q3ZTS7, UniProtKB:Q8IZ07, UniProtKB:Q9Y5A3 No chr12 110436974 110477237 109999169 110039432 +PA142672616 124930 HGNC:26363 ENSG00000198720 ankyrin repeat domain 13B ANKRD13B FLJ25555 Yes No Comparative Toxicogenomics Database:124930, Ensembl:ENSG00000198720, GeneCard:ANKRD13B, HGNC:HGNC:26363, ModBase:Q86YJ7, NCBI Gene:124930, RefSeq DNA:NT_010799, RefSeq Protein:NP_689558, RefSeq RNA:NM_152345, UniProtKB:B3KS27, UniProtKB:Q86YJ7 No chr17 27920527 27941779 29589769 29614761 +PA142672617 81573 HGNC:25374 ENSG00000118454 ankyrin repeat domain 13C ANKRD13C DKFZP566D1346, dJ677H15.3 Yes No Ensembl:ENSG00000118454, GeneCard:ANKRD13C, HGNC:HGNC:25374, HumanCyc Gene:HS12916, ModBase:Q8N6S4, NCBI Gene:81573, RefSeq DNA:NT_032977, RefSeq Protein:NP_110443, RefSeq RNA:NM_030816, UniProtKB:Q8N6S4 No chr1 70724685 70820471 70259002 70354977 +PA142672618 338692 HGNC:27880 ENSG00000172932 ankyrin repeat domain 13D ANKRD13D ankyrin repeat domain 13 family, member D Yes No Ensembl:ENSG00000172932, GeneCard:ANKRD13D, HGNC:HGNC:27880, NCBI Gene:338692, RefSeq DNA:NT_167190, RefSeq Protein:NP_997237, RefSeq RNA:NM_207354, RefSeq RNA:NR_030767, UniProtKB:Q0VGC3, UniProtKB:Q6ZTN6 No chr11 67056762 67069955 67289291 67302484 +PA134916467 54522 HGNC:23471 ENSG00000134461 ankyrin repeat domain 16 ANKRD16 DKFZP434N1511 Yes No Ensembl:ENSG00000134461, GeneCard:ANKRD16, HGNC:HGNC:23471, ModBase:Q6P6B7, NCBI Gene:54522, RefSeq DNA:NT_008705, RefSeq Protein:NP_001009941, RefSeq Protein:NP_001009942, RefSeq Protein:NP_001009943, RefSeq Protein:NP_061919, RefSeq RNA:NM_001009941, RefSeq RNA:NM_001009942, RefSeq RNA:NM_001009943, RefSeq RNA:NM_019046, UniProtKB:A8MSS9, UniProtKB:Q6P6B7 No chr10 5903593 5931860 5861726 5889897 +PA134943225 26057 HGNC:23575 ENSG00000132466 ankyrin repeat domain 17 ANKRD17 FLJ22206, GTAR, KIAA0697, MASK2, NY-BR-16 Yes No Ensembl:ENSG00000132466, GeneCard:ANKRD17, HGNC:HGNC:23575, ModBase:Q9H6J9, NCBI Gene:26057, RefSeq DNA:NT_022778, RefSeq Protein:NP_115593, RefSeq Protein:NP_942592, RefSeq RNA:NM_032217, RefSeq RNA:NM_198889, UniProtKB:O75179 No chr4 73940502 74124858 73073966 73259142 +PA134889624 253650 HGNC:23643 ENSG00000180071 ankyrin repeat domain 18A ANKRD18A FLJ35740, KIAA2015 Yes No Ensembl:ENSG00000180071, GeneCard:ANKRD18A, HGNC:HGNC:23643, HumanCyc Gene:HS17428, ModBase:Q8IVF6, NCBI Gene:253650, RefSeq DNA:NT_008413, RefSeq Protein:NP_671728, RefSeq Protein:XP_001714022, RefSeq Protein:XP_001717672, RefSeq Protein:XP_001726157, RefSeq RNA:NM_147195, RefSeq RNA:XM_001713970, RefSeq RNA:XM_001717620, RefSeq RNA:XM_001726105, UniProtKB:Q8IVF6 No chr9 38543190 38620626 38566260 38620587 +PA134961354 441459 HGNC:23644 ENSG00000230453 ankyrin repeat domain 18B ANKRD18B bA255A11.3 Yes No Ensembl:ENSG00000230453, GeneCard:ANKRD18B, HGNC:HGNC:23644, NCBI Gene:441459, RefSeq DNA:NT_008413, RefSeq Protein:XP_001716377, RefSeq Protein:XP_001717249, RefSeq Protein:XP_001718386, RefSeq RNA:XM_001716325, RefSeq RNA:XM_001717197, RefSeq RNA:XM_001718334 No chr9 33524347 33602658 33524403 33578755 +PA134991046 138649 HGNC:22567 ENSG00000187984 ankyrin repeat domain 19, pseudogene ANKRD19P FLJ36178 Yes No Ensembl:ENSG00000187984, GeneCard:ANKRD19P, HGNC:HGNC:22567, ModBase:Q9H560, NCBI Gene:138649, RefSeq DNA:NT_008470, RefSeq RNA:NR_026868 No chr9 95571893 95600739 92809611 92838457 +PA24804 26287 HGNC:495 ENSG00000165887 ankyrin repeat domain 2 ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle) ARPP Yes No Comparative Toxicogenomics Database:26287, Ensembl:ENSG00000165887, GenAtlas:ANKRD2, GeneCard:ANKRD2, HGNC:HGNC:495, HumanCyc Gene:HS09297, ModBase:Q9GZV1, NCBI Gene:26287, OMIM:610734, RefSeq DNA:NT_030059, RefSeq Protein:NP_001123453, RefSeq Protein:NP_065082, RefSeq RNA:NM_001129981, RefSeq RNA:NM_020349, UCSC Genome Browser:NM_020349, UniProtKB:Q9GZV1 No chr10 99332256 99343641 97572441 97583884 +PA134953648 84210 HGNC:23665 ENSG00000260691 ankyrin repeat domain 20 family member A1 ANKRD20A1 ankyrin repeat domain 20 family, member A1 ANKRD20A, DKFZp434A171 Yes No Ensembl:ENSG00000260691, GeneCard:ANKRD20A1, HGNC:HGNC:23665, HumanCyc Gene:HS13430, ModBase:Q5TYW2, NCBI Gene:84210, RefSeq DNA:NT_078066, RefSeq Protein:NP_115626, RefSeq RNA:NM_032250, UniProtKB:Q5TYW2 No chr9 67926761 67969840 67859315 67902394 +PA25868 391267 HGNC:42024 ENSG00000215559 ankyrin repeat domain 20 family, member A11, pseudogene ANKRD20A11P Yes No Ensembl:ENSG00000215559, GenAtlas:C21orf81, GeneCard:ANKRD20A11P, HGNC:HGNC:42024, ModBase:Q8NFU9, NCBI Gene:391267, RefSeq DNA:NT_011512, RefSeq RNA:NR_027270, UCSC Genome Browser:NM_153750 No chr21 15316090 15352765 13943769 13980444 +PA134901166 391269 HGNC:23756 ENSG00000249493 ankyrin repeat domain 20 family, member A18, pseudogene ANKRD20A18P Yes No Ensembl:ENSG00000249493, GeneCard:ANKRD20A18P, HGNC:HGNC:23756, NCBI Gene:391269, RefSeq DNA:NG_009314, RefSeq DNA:NT_011512 No chr21 15436540 15441409 14064250 14069088 +PA145149331 728788 HGNC:32319 ankyrin repeat domain 20 family, member A20, pseudogene ANKRD20A20P Yes No GeneCard:CCDC29, HGNC:HGNC:32319, NCBI Gene:728788, RefSeq DNA:NG_016332, RefSeq DNA:NT_078070, RefSeq Protein:NP_001092276, RefSeq RNA:NM_001098806 No chr9 69423200 69448577 64410782 64436159 +PA164715315 440482 HGNC:33833 ENSG00000186481 ankyrin repeat domain 20 family, member A5, pseudogene ANKRD20A5P MGC26718 Yes No Ensembl:ENSG00000186481, GeneCard:ANKRD20A5P, HGNC:HGNC:33833, NCBI Gene:440482, RefSeq Protein:XP_002345143, RefSeq Protein:XP_002347882, RefSeq RNA:NR_040113, RefSeq RNA:XM_002345102, RefSeq RNA:XM_002347841 No chr18 14179096 14227049 14179097 14227050 +PA134914536 729171 HGNC:23666 ENSG00000229089 ankyrin repeat domain 20 family, member A8, pseudogene ANKRD20A8P Yes No Ensembl:ENSG00000229089, GeneCard:ANKRD20A8P, HGNC:HGNC:23666, NCBI Gene:729171, RefSeq DNA:NT_022171, RefSeq RNA:NR_003366 No chr2 95426673 95522820 94760928 94857075 +PA134954600 118932 HGNC:28321 ENSG00000152766 ankyrin repeat domain 22 ANKRD22 MGC22805 Yes No Ensembl:ENSG00000152766, GeneCard:ANKRD22, HGNC:HGNC:28321, HumanCyc Gene:HS14444, ModBase:Q5VYY1, NCBI Gene:118932, RefSeq DNA:NT_030059, RefSeq Protein:NP_653191, RefSeq RNA:NM_144590, UniProtKB:Q5VYY1 No chr10 90579656 90611732 88819899 88851975 +PA134960626 200539 HGNC:24470 ENSG00000163126 ankyrin repeat domain 23 ANKRD23 diabetes related ankyrin repeat protein DARP, FLJ32449, MARP3 Yes No Comparative Toxicogenomics Database:200539, Ensembl:ENSG00000163126, GeneCard:ANKRD23, HGNC:HGNC:24470, HumanCyc Gene:HS15029, ModBase:Q86SG2, NCBI Gene:200539, OMIM:610736, RefSeq DNA:NT_022171, RefSeq Protein:NP_659431, RefSeq RNA:NM_144994, UniProtKB:Q86SG2 No chr2 97488599 97509758 96837914 96844021 +PA134937612 170961 HGNC:29424 ENSG00000089847 ankyrin repeat domain 24 ANKRD24 KIAA1981 Yes No Comparative Toxicogenomics Database:170961, Ensembl:ENSG00000089847, GeneCard:ANKRD24, HGNC:HGNC:29424, ModBase:Q8TF21, NCBI Gene:170961, RefSeq DNA:NT_011255, RefSeq Protein:NP_597732, RefSeq RNA:NM_133475, UniProtKB:Q8TF21 No chr19 4182665 4224811 4182618 4224814 +PA134926710 22852 HGNC:29186 ENSG00000107890 ankyrin repeat domain containing 26 ANKRD26 ankyrin repeat domain 26 KIAA1074, THC2 Yes No Comparative Toxicogenomics Database:22852, Ensembl:ENSG00000107890, GeneCard:ANKRD26, HGNC:HGNC:29186, HumanCyc Gene:HS12664, NCBI Gene:22852, OMIM:610855, RefSeq DNA:NT_008705, RefSeq Protein:NP_055730, RefSeq RNA:NM_014915, UniProtKB:Q9UPS8 No chr10 27284054 27389427 26938195 27100498 +PA134893411 84079 HGNC:25310 ENSG00000105186 ankyrin repeat domain 27 ANKRD27 Vps9 domain and ankyrin-repeat-containing protein, ankyrin repeat domain 27 (VPS9 domain) DKFZp434L0718, FLJ00040, VARP Yes No Comparative Toxicogenomics Database:84079, Ensembl:ENSG00000105186, GeneCard:ANKRD27, HGNC:HGNC:25310, HumanCyc Gene:HS12576, ModBase:Q96NW4, NCBI Gene:84079, RefSeq DNA:NT_011109, RefSeq Protein:NP_115515, RefSeq RNA:NM_032139, UniProtKB:Q96NW4 No chr19 33087907 33166102 32597001 32675215 +PA134880251 23243 HGNC:29024 ENSG00000206560 ankyrin repeat domain 28 ANKRD28 """phosphatase interactor targeting K protein"", ""protein phosphatase 1, regulatory subunit 65"", ""protein phosphatase 6 ankyrin repeat subunit A""" CFAP79, FAP79, KIAA0379, PITK, PP6-ARS-A, PPP1R65 Yes No Comparative Toxicogenomics Database:23243, Ensembl:ENSG00000206560, GeneCard:ANKRD28, HGNC:HGNC:29024, NCBI Gene:23243, OMIM:611122, RefSeq DNA:NT_022517, RefSeq Protein:NP_001182027, RefSeq Protein:NP_001182028, RefSeq Protein:NP_056014, RefSeq RNA:NM_001195098, RefSeq RNA:NM_001195099, RefSeq RNA:NM_015199, UniProtKB:O15084 No chr3 15708743 15901053 15667236 15859814 +PA134948058 147463 HGNC:27110 ENSG00000154065 ankyrin repeat domain 29 ANKRD29 FLJ25053 Yes No Comparative Toxicogenomics Database:147463, Ensembl:ENSG00000154065, GeneCard:ANKRD29, HGNC:HGNC:27110, HumanCyc Gene:HS07946, ModBase:Q8N6D5, NCBI Gene:147463, RefSeq DNA:NT_010966, RefSeq Protein:NP_775776, RefSeq RNA:NM_173505, UniProtKB:Q8N6D5 No chr18 21179977 21242849 23598926 23662914 +PA134974407 91074 HGNC:17234 ENSG00000148513 ankyrin repeat domain 30A ANKRD30A breast cancer antigen NY-BR-1 NY-BR-1 Yes No Ensembl:ENSG00000148513, GeneCard:ANKRD30A, HGNC:HGNC:17234, HumanCyc Gene:HS07535, NCBI Gene:91074, OMIM:610856, RefSeq DNA:NT_008705, RefSeq Protein:NP_443723, RefSeq RNA:NM_052997, UniProtKB:Q9BXX3 No chr10 37414785 37521495 37125754 37235831 +PA134980028 374860 HGNC:24165 ENSG00000180777 ankyrin repeat domain 30B ANKRD30B NY-BR-1.1 Yes Yes Ensembl:ENSG00000180777, GeneCard:ANKRD30B, HGNC:HGNC:24165, NCBI Gene:374860, RefSeq DNA:NT_010859, RefSeq Protein:NP_001138501, RefSeq RNA:NM_001145029, UniProtKB:Q9BXX2 No chr18 14748239 14852737 14748240 14855465 +PA166049020 554226 HGNC:35167 ENSG00000163046 ankyrin repeat domain 30B like ANKRD30BL ankyrin repeat domain 30B-like ANKRD30BP3, NCRNA00164 Yes No Ensembl:ENSG00000163046, HGNC:HGNC:35167, NCBI Gene:554226 No chr2 132905164 133015542 132147591 132257969 +PA134977258 642460 HGNC:19722 ENSG00000175302 ankyrin repeat domain 30B pseudogene 1 ANKRD30BP1 PRED4 Yes No Ensembl:ENSG00000175302, HGNC:HGNC:19722, NCBI Gene:642460, RefSeq DNA:NG_009612, RefSeq DNA:NT_011512, RefSeq RNA:XR_016169 No chr21 14756163 14800096 13383842 13427775 +PA134962599 149992 HGNC:16620 ENSG00000224309 ankyrin repeat domain 30B pseudogene 2 ANKRD30BP2 cancer/testis antigen 85 CT85, CTSP-1 Yes No Ensembl:ENSG00000224309, HGNC:HGNC:16620, NCBI Gene:149992, RefSeq DNA:NT_011512, RefSeq RNA:NM_153773, RefSeq RNA:NR_026916, RefSeq RNA:XR_040882 No chr21 14410487 14490572 13038166 13118251 +PA134879237 256006 HGNC:26853 ENSG00000145700 ankyrin repeat domain 31 ANKRD31 FLJ40191 Yes No Ensembl:ENSG00000145700, GeneCard:ANKRD31, HGNC:HGNC:26853, NCBI Gene:256006, RefSeq DNA:NT_006713, RefSeq Protein:NP_001157915, RefSeq Protein:XP_001714521, RefSeq Protein:XP_932764, RefSeq Protein:XP_942490, RefSeq RNA:NM_001164443, RefSeq RNA:XM_001714469, RefSeq RNA:XM_927671, RefSeq RNA:XM_937397, UniProtKB:Q8N7Z5 No chr5 74364122 74532703 75068297 75236897 +PA25508 341405 HGNC:13788 ENSG00000167612 ankyrin repeat domain 33 ANKRD33 C12orf7, DKFZp686O1689, PANKY Yes No Comparative Toxicogenomics Database:341405, Ensembl:ENSG00000167612, GenAtlas:ANKRD33, GeneCard:ANKRD33, HGNC:HGNC:13788, NCBI Gene:341405, RefSeq DNA:NT_029419, RefSeq Protein:NP_001123487, RefSeq Protein:NP_872414, RefSeq RNA:NM_001130015, RefSeq RNA:NM_182608, UniProtKB:Q0VAA8, UniProtKB:Q5K617, UniProtKB:Q7Z3H0 No chr12 52281745 52285505 51888009 51891721 +PA164715326 651746 HGNC:35240 ENSG00000164236 ankyrin repeat domain 33B ANKRD33B Yes No Ensembl:ENSG00000164236, GeneCard:ANKRD33B, HGNC:HGNC:35240, ModBase:A6NCL7, NCBI Gene:651746, RefSeq DNA:NT_006576, RefSeq Protein:NP_001157912, RefSeq Protein:XP_001130634, RefSeq Protein:XP_001723826, RefSeq Protein:XP_946054, RefSeq RNA:NM_001164440, RefSeq RNA:XM_001130634, RefSeq RNA:XM_001723774, RefSeq RNA:XM_940961, UniProtKB:A6NCL7 No chr5 10564435 10657928 10564323 10657816 +PA162376563 284615 HGNC:27639 ENSG00000272031 ankyrin repeat domain 34A ANKRD34A ANKRD34 Yes No Ensembl:ENSG00000272031, GeneCard:ANKRD34A, HGNC:HGNC:27639, ModBase:Q69YU3, NCBI Gene:284615, RefSeq DNA:NT_167185, RefSeq Protein:NP_001034977, RefSeq RNA:NM_001039888, UniProtKB:Q69YU3 No chr1 145470508 145475647 145959441 145964582 +PA162376576 340120 HGNC:33736 ENSG00000189127 ankyrin repeat domain 34B ANKRD34B DP58 Yes No Ensembl:ENSG00000189127, GeneCard:ANKRD34B, HGNC:HGNC:33736, NCBI Gene:340120, RefSeq DNA:NT_006713, RefSeq Protein:NP_001004441, RefSeq RNA:NM_001004441, UniProtKB:A5PLL1 No chr5 79852574 79866304 80556755 80570485 +PA162376577 390616 HGNC:33888 ENSG00000235711 ankyrin repeat domain 34C ANKRD34C Yes No Ensembl:ENSG00000235711, GeneCard:ANKRD34C, HGNC:HGNC:33888, NCBI Gene:390616, RefSeq DNA:NT_010194, RefSeq Protein:NP_001139813, RefSeq Protein:XP_002343368, RefSeq Protein:XP_002344905, RefSeq Protein:XP_002347592, RefSeq RNA:NM_001146341, RefSeq RNA:XM_002343327, RefSeq RNA:XM_002344864, RefSeq RNA:XM_002347551 No chr15 79575146 79590581 79282804 79298239 +PA134896362 148741 HGNC:26323 ENSG00000198483 ankyrin repeat domain 35 ANKRD35 FLJ25124 Yes No Ensembl:ENSG00000198483, GeneCard:ANKRD35, HGNC:HGNC:26323, ModBase:Q8N283, NCBI Gene:148741, RefSeq DNA:NT_167185, RefSeq Protein:NP_653299, RefSeq RNA:NM_144698, UniProtKB:Q8N283 No chr1 145549209 145568526 145866560 145885866 +PA134930297 375248 HGNC:24079 ENSG00000135976 ankyrin repeat domain 36 ANKRD36 UNQ2430 Yes No Ensembl:ENSG00000135976, GeneCard:ANKRD36, HGNC:HGNC:24079, ModBase:Q6UX02, NCBI Gene:375248, RefSeq DNA:NT_022171, RefSeq Protein:NP_001157787, RefSeq Protein:XP_002342272, RefSeq Protein:XP_002345594, RefSeq Protein:XP_002348322, RefSeq RNA:NM_001164315, RefSeq RNA:XM_002342231, RefSeq RNA:XM_002345553, RefSeq RNA:XM_002348281 No chr2 97778923 97930258 97113186 97264521 +PA162376583 57730 HGNC:29333 ENSG00000196912 ankyrin repeat domain 36B ANKRD36B CLL-associated antigen KW-1, melanoma-associated antigen FLJ21281, KIAA1641 Yes No Ensembl:ENSG00000196912, GeneCard:ANKRD36B, HGNC:HGNC:29333, HumanCyc Gene:HS13604, HumanCyc Gene:HS16354, NCBI Gene:57730, RefSeq DNA:NT_022171, RefSeq Protein:NP_079466, RefSeq RNA:NM_025190 No chr2 98109009 98206708 97492663 97590245 +PA142672603 84832 HGNC:28169 ENSG00000214262 ankyrin repeat domain 36B pseudogene 1 ANKRD36BP1 MGC12538 Yes No Ensembl:ENSG00000214262, HGNC:HGNC:28169, NCBI Gene:84832, RefSeq DNA:NT_004487, RefSeq RNA:NR_026844, RefSeq RNA:XR_017823, RefSeq RNA:XR_040874, RefSeq RNA:XR_040875 No chr1 168214803 168216668 168245565 168247430 +PA166049009 400986 HGNC:32946 ENSG00000174501 ankyrin repeat domain 36C ANKRD36C protein immuno-reactive with anti-PTH polyclonal antibodies DKFZp667P0924 Yes No Ensembl:ENSG00000174501, HGNC:HGNC:32946, NCBI Gene:400986 No chr2 96516914 96658068 95849548 95992320 +PA142672604 353322 HGNC:29593 ENSG00000186352 ankyrin repeat domain 37 ANKRD37 Lrp2bp Yes No Ensembl:ENSG00000186352, GeneCard:ANKRD37, HGNC:HGNC:29593, ModBase:Q7Z713, NCBI Gene:353322, RefSeq DNA:NT_016354, RefSeq Protein:NP_859077, RefSeq RNA:NM_181726, UniProtKB:Q7Z713 No chr4 186317840 186321529 185396686 185400245 +PA142672606 51239 HGNC:28640 ENSG00000213337 ankyrin repeat domain 39 ANKRD39 MGC41816 Yes No Ensembl:ENSG00000213337, GeneCard:ANKRD39, HGNC:HGNC:28640, ModBase:Q53RE8, NCBI Gene:51239, RefSeq DNA:NT_022171, RefSeq Protein:NP_057550, RefSeq RNA:NM_016466, UniProtKB:Q53RE8 No chr2 97513722 97523756 96847985 96858019 +PA142672607 91369 HGNC:28233 ENSG00000154945 ankyrin repeat domain 40 ANKRD40 MGC15396 Yes No Comparative Toxicogenomics Database:91369, Ensembl:ENSG00000154945, GeneCard:ANKRD40, HGNC:HGNC:28233, HumanCyc Gene:HS14545, ModBase:Q6AI12, NCBI Gene:91369, RefSeq DNA:NT_010783, RefSeq Protein:NP_443087, RefSeq RNA:NM_052855, UniProtKB:A8IK34, UniProtKB:Q6AI12 No chr17 48770551 48785270 50693190 50707909 +PA142672221 55018 HGNC:26080 ENSG00000167117 ANKRD40 C-terminal like ANKRD40CL long intergenic non-protein coding RNA 483 C17orf73, FLJ20694, LINC00483 Yes No Ensembl:ENSG00000167117, GeneCard:C17orf73, HGNC:HGNC:26080, HumanCyc Gene:HS15523, NCBI Gene:55018, RefSeq DNA:NT_010783, RefSeq RNA:NR_024626 No chr17 48834759 48844918 50761034 50767515 +PA142672609 338699 HGNC:26752 ENSG00000137494 ankyrin repeat domain 42 ANKRD42 protein phosphatase 1, regulatory subunit 79 FLJ37874, PPP1R79, SARP Yes No Ensembl:ENSG00000137494, GeneCard:ANKRD42, HGNC:HGNC:26752, ModBase:Q8N9B4, NCBI Gene:338699, RefSeq DNA:NT_167190, RefSeq Protein:NP_872409, RefSeq RNA:NM_182603, UniProtKB:Q8N9B4 No chr11 82904754 82967719 83193739 83256099 +PA142672611 91526 HGNC:25259 ENSG00000065413 ankyrin repeat domain 44 ANKRD44 protein phosphatase 6 ankyrin repeat subunit B PP6-ARS-B Yes No Ensembl:ENSG00000065413, GeneCard:ANKRD44, HGNC:HGNC:25259, HumanCyc Gene:HS12172, NCBI Gene:91526, RefSeq DNA:NT_005403, RefSeq Protein:NP_001182073, RefSeq Protein:NP_710181, RefSeq RNA:NM_001195144, RefSeq RNA:NM_153697, UniProtKB:Q8N8A2 No chr2 197831741 198175521 196962617 197310797 +PA142672612 339416 HGNC:24786 ENSG00000183831 ankyrin repeat domain 45 ANKRD45 cancer/testis antigen 117 CT117, FLJ45235 Yes No Ensembl:ENSG00000183831, GeneCard:ANKRD45, HGNC:HGNC:24786, ModBase:Q5TZF3, NCBI Gene:339416, RefSeq DNA:NT_004487, RefSeq Protein:NP_940895, RefSeq RNA:NM_198493, UniProtKB:Q5TZF3 No chr1 173577475 173639001 173608336 173705430 +PA142672613 157567 HGNC:27229 ENSG00000186106 ankyrin repeat domain 46 ANKRD46 Yes No Comparative Toxicogenomics Database:157567, Ensembl:ENSG00000186106, GeneCard:ANKRD46, HGNC:HGNC:27229, ModBase:Q86W74, NCBI Gene:157567, RefSeq DNA:NT_008046, RefSeq Protein:NP_940683, RefSeq RNA:NM_198401, UniProtKB:Q86W74 No chr8 101521980 101572014 100509752 100559786 +PA142672615 54851 HGNC:25970 ENSG00000168876 ankyrin repeat domain 49 ANKRD49 fetal globin-inducing factor FGIF, FLJ20189, GBIF Yes No Ensembl:ENSG00000168876, GeneCard:ANKRD49, HGNC:HGNC:25970, HumanCyc Gene:HS15719, ModBase:Q8WVL7, NCBI Gene:54851, RefSeq DNA:NT_167190, RefSeq Protein:NP_060174, RefSeq RNA:NM_017704, UniProtKB:Q8WVL7 No chr11 94227153 94232744 94493987 94499578 +PA128394695 57182 HGNC:29223 ENSG00000151458 ankyrin repeat domain containing 50 ANKRD50 ankyrin repeat domain 50 KIAA1223 Yes No Comparative Toxicogenomics Database:57182, Ensembl:ENSG00000151458, GeneCard:ANKRD50, HGNC:HGNC:29223, NCBI Gene:57182, RefSeq DNA:NT_016354, RefSeq Protein:NP_001161354, RefSeq Protein:NP_065070, RefSeq RNA:NM_001167882, RefSeq RNA:NM_020337, UniProtKB:B4DHJ6, UniProtKB:Q8TB46, UniProtKB:Q9ULJ7 No chr4 125585203 125633887 124664048 124712732 +PA143485302 283373 HGNC:26614 ENSG00000139645 ankyrin repeat domain 52 ANKRD52 protein phosphatase 6 ankyrin repeat subunit C FLJ34236, PP6-ARS-C Yes No Ensembl:ENSG00000139645, GeneCard:ANKRD52, HGNC:HGNC:26614, HumanCyc Gene:HS13790, ModBase:Q8NB46, NCBI Gene:283373, RefSeq DNA:NT_029419, RefSeq Protein:NP_775866, RefSeq RNA:NM_173595, UniProtKB:B3KWN0, UniProtKB:Q8NB46 No chr12 56631591 56652143 56237807 56258391 +PA144596517 79998 HGNC:25691 ENSG00000144031 ankyrin repeat domain 53 ANKRD53 FLJ12056, FLJ36160 Yes No Ensembl:ENSG00000144031, GeneCard:ANKRD53, HGNC:HGNC:25691, ModBase:Q8N9V6, NCBI Gene:79998, RefSeq DNA:NT_022184, RefSeq Protein:NP_001108588, RefSeq Protein:NP_079209, RefSeq RNA:NM_001115116, RefSeq RNA:NM_024933, UniProtKB:Q8N9V6 No chr2 71205172 71212629 70977183 70985499 +PA145149843 129138 HGNC:25185 ENSG00000100124 ankyrin repeat domain 54 ANKRD54 Lyn-interacting ankyrin repeat protein LIAR Yes No Ensembl:ENSG00000100124, GeneCard:ANKRD54, HGNC:HGNC:25185, HumanCyc Gene:HS12389, ModBase:Q6NXT1, NCBI Gene:129138, OMIM:613383, RefSeq DNA:NT_011520, RefSeq Protein:NP_620152, RefSeq RNA:NM_138797, RefSeq RNA:NR_036556, UniProtKB:Q6NXT1 No chr22 38226862 38240353 37830854 37848994 +PA145149863 79722 HGNC:25681 ENSG00000164512 ankyrin repeat domain 55 ANKRD55 FLJ11795 Yes Yes Comparative Toxicogenomics Database:79722, Ensembl:ENSG00000164512, GeneCard:ANKRD55, HGNC:HGNC:25681, HumanCyc Gene:HS15208, NCBI Gene:79722, RefSeq DNA:NT_006713, RefSeq Protein:NP_001035024, RefSeq Protein:NP_078945, RefSeq RNA:NM_001039935, RefSeq RNA:NM_024669, UniProtKB:B3KVT8, UniProtKB:Q3KP44 No chr5 55395507 55529186 56099680 56233359 +PA24807 22881 HGNC:17280 ENSG00000135299 ankyrin repeat domain 6 ANKRD6 diego homolog (Drosophila), diversin KIAA0957 Yes No Ensembl:ENSG00000135299, GenAtlas:ANKRD6, GeneCard:ANKRD6, HGNC:HGNC:17280, HumanCyc Gene:HS13571, ModBase:Q9Y2G4, NCBI Gene:22881, OMIM:610583, RefSeq DNA:NT_007299, RefSeq Protein:NP_001229738, RefSeq Protein:NP_001229740, RefSeq Protein:NP_001229742, RefSeq Protein:NP_001229743, RefSeq Protein:NP_055757, RefSeq RNA:NM_001242809, RefSeq RNA:NM_001242811, RefSeq RNA:NM_001242813, RefSeq RNA:NM_001242814, RefSeq RNA:NM_014942, UCSC Genome Browser:NM_014942, UniProtKB:Q9Y2G4 No chr6 90142897 90343553 89433178 89633834 +PA162376674 140731 HGNC:16217 ENSG00000124227 ankyrin repeat domain 60 ANKRD60 C20orf86, bA196N14.3 Yes No Ensembl:ENSG00000124227, GeneCard:ANKRD60, HGNC:HGNC:16217, HumanCyc Gene:HS13119, NCBI Gene:140731, RefSeq DNA:NT_011362, RefSeq Protein:XP_001134442, RefSeq Protein:XP_001134462, RefSeq Protein:XP_001717391, RefSeq RNA:XM_001134442, RefSeq RNA:XM_001134462, RefSeq RNA:XM_001717339, UniProtKB:Q9BZ19 No chr20 56793510 56804039 58216126 58228653 +PA164715346 100310846 HGNC:22467 ENSG00000157999 ankyrin repeat domain 61 ANKRD61 Yes No Ensembl:ENSG00000157999, HGNC:HGNC:22467, NCBI Gene:100310846 No chr7 6071007 6076183 6031376 6036552 +PA164715347 342850 HGNC:35241 ENSG00000181626 ankyrin repeat domain 62 ANKRD62 DKFZp779B1634 Yes No Ensembl:ENSG00000181626, GeneCard:ANKRD62, HGNC:HGNC:35241, NCBI Gene:342850, RefSeq DNA:NT_010859, RefSeq Protein:XP_001715780, RefSeq Protein:XP_003118804, RefSeq Protein:XP_292717, RefSeq Protein:XP_947286, RefSeq RNA:XM_001715728, RefSeq RNA:XM_003118756, RefSeq RNA:XM_292717, RefSeq RNA:XM_942193 No chr18 12093848 12129763 12093796 12181684 +PA166049049 100131244 HGNC:40027 ENSG00000230778 ankyrin repeat domain 63 ANKRD63 Yes No Ensembl:ENSG00000230778, HGNC:HGNC:40027, NCBI Gene:100131244 No chr15 40573645 40574787 40278372 40282586 +PA166049086 441869 HGNC:42950 ENSG00000235098 ankyrin repeat domain 65 ANKRD65 Yes No Ensembl:ENSG00000235098, HGNC:HGNC:42950, NCBI Gene:441869 No chr1 1353800 1356824 1418420 1422561 +PA166049153 100287718 HGNC:44669 ENSG00000230062 ankyrin repeat domain 66 ANKRD66 Yes No Ensembl:ENSG00000230062, HGNC:HGNC:44669, NCBI Gene:100287718 No chr6 46714654 46726955 46746917 46759218 +PA38591 56311 HGNC:18588 ENSG00000106013 ankyrin repeat domain 7 ANKRD7 testis-specific ankyrin motif containing protein TSA806 Yes No Ensembl:ENSG00000106013, GenAtlas:ANKRD7, GeneCard:ANKRD7, HGNC:HGNC:18588, HumanCyc Gene:HS02848, ModBase:Q92527, NCBI Gene:56311, OMIM:610731, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001071176, RefSeq Protein:NP_062618, RefSeq RNA:NM_001077708, RefSeq RNA:NM_019644, UCSC Genome Browser:NM_019644, UniProtKB:Q92527 No chr7 117864493 117882785 118224658 118242731 +PA134971966 122416 HGNC:20096 ENSG00000156381 ankyrin repeat domain 9 ANKRD9 Yes No Ensembl:ENSG00000156381, GeneCard:ANKRD9, HGNC:HGNC:20096, HumanCyc Gene:HS14614, ModBase:Q96BM1, NCBI Gene:122416, RefSeq DNA:NT_026437, RefSeq Protein:NP_689539, RefSeq RNA:NM_152326, UniProtKB:Q96BM1 No chr14 102973179 102976128 102503649 102509791 +PA134958476 23294 HGNC:20961 ENSG00000064999 ankyrin repeat and sterile alpha motif domain containing 1A ANKS1A ANKS1, KIAA0229 Yes No Ensembl:ENSG00000064999, GeneCard:ANKS1A, HGNC:HGNC:20961, ModBase:Q92625, NCBI Gene:23294, OMIM:608994, RefSeq DNA:NT_007592, RefSeq Protein:NP_056060, RefSeq RNA:NM_015245, UniProtKB:Q05CP0, UniProtKB:Q92625 No chr6 34857038 35085802 34889261 35097994 +PA128394692 56899 HGNC:24600 ENSG00000185046 ankyrin repeat and sterile alpha motif domain containing 1B ANKS1B AIDA-1, ANKS2, EB-1, cajalin-2 Yes Yes Ensembl:ENSG00000185046, GeneCard:ANKS1B, HGNC:HGNC:24600, ModBase:Q7Z6G7, NCBI Gene:56899, OMIM:607815, RefSeq DNA:NT_029419, RefSeq Protein:NP_001190994, RefSeq Protein:NP_001190995, RefSeq Protein:NP_001190996, RefSeq Protein:NP_001190997, RefSeq Protein:NP_001190998, RefSeq Protein:NP_001190999, RefSeq Protein:NP_001191008, RefSeq Protein:NP_001191009, RefSeq Protein:NP_001191010, RefSeq Protein:NP_064525, RefSeq Protein:NP_690001, RefSeq Protein:NP_858056, RefSeq RNA:NM_001204065, RefSeq RNA:NM_001204066, RefSeq RNA:NM_001204067, RefSeq RNA:NM_001204068, RefSeq RNA:NM_001204069, RefSeq RNA:NM_001204070, RefSeq RNA:NM_001204079, RefSeq RNA:NM_001204080, RefSeq RNA:NM_001204081, RefSeq RNA:NM_020140, RefSeq RNA:NM_152788, RefSeq RNA:NM_181670, UCSC Genome Browser:NM_020140, UniProtKB:Q7Z6G8 No chr12 99128569 100378512 98729904 99984727 +PA143485303 124401 HGNC:29422 ENSG00000168096 ankyrin repeat and sterile alpha motif domain containing 3 ANKS3 FLJ32345, FLJ32767, KIAA1977 Yes No Comparative Toxicogenomics Database:124401, Ensembl:ENSG00000168096, GeneCard:ANKS3, HGNC:HGNC:29422, ModBase:Q6ZW76, NCBI Gene:124401, RefSeq DNA:NT_010393, RefSeq Protein:NP_001229858, RefSeq Protein:NP_597707, RefSeq RNA:NM_001242929, RefSeq RNA:NM_133450, RefSeq RNA:NR_040252, UniProtKB:Q6ZW76 No chr16 4746500 4784378 4696510 4734377 +PA143485304 257629 HGNC:26795 ENSG00000175311 ankyrin repeat and sterile alpha motif domain containing 4B ANKS4B FLJ38819, HARP Yes No Comparative Toxicogenomics Database:257629, Ensembl:ENSG00000175311, GeneCard:ANKS4B, HGNC:HGNC:26795, HumanCyc Gene:HS16455, ModBase:Q8N8V4, NCBI Gene:257629, OMIM:609901, RefSeq DNA:NT_010393, RefSeq Protein:NP_665872, RefSeq RNA:NM_145865, UniProtKB:Q8N8V4 No chr16 21245016 21263750 21233695 21252429 +PA134931829 203286 HGNC:26724 ENSG00000165138 ankyrin repeat and sterile alpha motif domain containing 6 ANKS6 ANKRD14, FLJ36928, NPHP16, OTTHUMG00000020346, SAMD6 Yes No Ensembl:ENSG00000165138, GeneCard:ANKS6, HGNC:HGNC:26724, HumanCyc Gene:HS15291, ModBase:Q8N9L6, NCBI Gene:203286, RefSeq DNA:NT_008470, RefSeq Protein:NP_775822, RefSeq RNA:NM_173551, UniProtKB:B3KXP1, UniProtKB:Q68DC2 No chr9 101494291 101558794 98732009 98796542 +PA134863258 389161 HGNC:29642 ENSG00000206199 ankyrin repeat and ubiquitin domain containing 1 ANKUB1 C3orf16 Yes No Ensembl:ENSG00000206199, GeneCard:C3orf16, HGNC:HGNC:29642, ModBase:A6NFN9, NCBI Gene:389161, RefSeq DNA:NT_005612, RefSeq Protein:NP_001138432, RefSeq RNA:NM_001144960, UniProtKB:B4E2N8 No chr3 149478887 149510610 149760648 149792823 +PA143485305 55139 HGNC:25527 ENSG00000163516 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ANKZF1 ankyrin repeat and zinc finger domain containing 1 FLJ10415, Vms1, ZNF744 Yes No Comparative Toxicogenomics Database:55139, Ensembl:ENSG00000163516, GeneCard:ANKZF1, HGNC:HGNC:25527, HumanCyc Gene:HS15073, ModBase:Q9H8Y5, NCBI Gene:55139, RefSeq DNA:NT_005403, RefSeq Protein:NP_001035869, RefSeq Protein:NP_060559, RefSeq RNA:NM_001042410, RefSeq RNA:NM_018089, UniProtKB:Q9H8Y5 No chr2 220094479 220101391 219229757 219236669 +PA24809 54443 HGNC:14082 ENSG00000011426 anillin, actin binding protein ANLN """anillin actin binding protein"", ""anillin, actin binding protein""" ANILLIN, Scraps, scra Yes No Comparative Toxicogenomics Database:54443, Ensembl:ENSG00000011426, GenAtlas:ANLN, GeneCard:ANLN, HGNC:HGNC:14082, HumanCyc Gene:HS00317, ModBase:Q9NQW6, NCBI Gene:54443, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_061155, RefSeq RNA:NM_018685, UCSC Genome Browser:NM_018685, UniProtKB:Q9NQW6 No chr7 36429415 36493400 36389803 36453791 +PA164715378 55107 HGNC:21625 ENSG00000131620 anoctamin 1 ANO1 anoctamin 1, calcium activated chloride channel DOG1, FLJ10261, ORAOV2, TAOS2, TMEM16A Yes No Comparative Toxicogenomics Database:55107, Ensembl:ENSG00000131620, GeneCard:ANO1, HGNC:HGNC:21625, HumanCyc Gene:HS13391, NCBI Gene:55107, OMIM:610108, RefSeq DNA:NT_033927, RefSeq DNA:NT_167190, RefSeq Protein:NP_060513, RefSeq RNA:NM_018043, RefSeq RNA:NR_030691, UCSC Genome Browser:NM_018043, UniProtKB:Q5XXA6, UniProtKB:Q9NW72 No chr11 69924408 70035651 70078302 70189545 +PA164715433 55129 HGNC:25519 ENSG00000160746 anoctamin 10 ANO10 FLJ10375, MGC47890, SCAR10, TMEM16K Yes No Ensembl:ENSG00000160746, GeneCard:ANO10, HGNC:HGNC:25519, HumanCyc Gene:HS14826, ModBase:Q9NW15, NCBI Gene:55129, RefSeq DNA:NT_022517, RefSeq Protein:NP_001191760, RefSeq Protein:NP_001191761, RefSeq Protein:NP_001191762, RefSeq Protein:NP_001191763, RefSeq Protein:NP_060545, RefSeq RNA:NM_001204831, RefSeq RNA:NM_001204832, RefSeq RNA:NM_001204833, RefSeq RNA:NM_001204834, RefSeq RNA:NM_018075, UniProtKB:Q9NW15 No chr3 43407818 43663560 43366324 43691594 +PA25504 57101 HGNC:1183 ENSG00000047617 anoctamin 2 ANO2 """anoctamin 2"", ""anoctamin 2, calcium activated chloride channel"", ""transmembrane protein 16B (eight membrane-spanning domains)""" C12orf3, TMEM16B Yes Yes Ensembl:ENSG00000047617, GenAtlas:TMEM16B, GeneCard:ANO2, GeneCard:TMEM16B, HGNC:HGNC:1183, HumanCyc Gene:HS12106, NCBI Gene:57101, OMIM:610109, RefSeq DNA:NT_009759, RefSeq Protein:NP_065106, RefSeq RNA:NM_020373, UCSC Genome Browser:NM_020373, UniProtKB:Q9NQ90 No chr12 5671817 6055398 5560241 5948790 +PA25489 63982 HGNC:14004 ENSG00000134343 anoctamin 3 ANO3 dystonia 23, transmembrane protein 16C (eight membrane-spanning domains) C11orf25, DYT23, GENX-3947, TMEM16C Yes Yes Ensembl:ENSG00000134343, GenAtlas:TMEM16C, GeneCard:ANO3, GeneCard:TMEM16C, HGNC:HGNC:14004, HumanCyc Gene:HS13526, NCBI Gene:63982, OMIM:610110, RefSeq DNA:NT_009237, RefSeq Protein:NP_113606, RefSeq RNA:NM_031418, UCSC Genome Browser:NM_031418, UniProtKB:Q9BYT9 No chr11 26210458 26684836 26189123 26663289 +PA164715582 121601 HGNC:23837 ENSG00000151572 anoctamin 4 ANO4 FLJ34221, FLJ34272, FLJ35277, TMEM16D Yes No Ensembl:ENSG00000151572, GeneCard:ANO4, HGNC:HGNC:23837, NCBI Gene:121601, OMIM:610111, RefSeq DNA:NT_029419, RefSeq Protein:NP_849148, RefSeq RNA:NM_178826, UniProtKB:Q32M45 No chr12 101133841 101522419 100717457 101128641 +PA164715641 203859 HGNC:27337 ENSG00000171714 anoctamin 5 ANO5 GDD1, LGMD2L, TMEM16E Yes No Ensembl:ENSG00000171714, GeneCard:ANO5, HGNC:HGNC:27337, ModBase:Q75V66, NCBI Gene:203859, OMIM:166260, OMIM:608662, OMIM:611307, OMIM:613319, RefSeq DNA:NG_015844, RefSeq DNA:NT_009237, RefSeq Protein:NP_001136121, RefSeq Protein:NP_998764, RefSeq RNA:NM_001142649, RefSeq RNA:NM_213599, UniProtKB:Q75V66 No chr11 22214199 22304913 22192485 22283367 +PA164715690 196527 HGNC:25240 ENSG00000177119 anoctamin 6 ANO6 DKFZp313M0720, TMEM16F Yes No Ensembl:ENSG00000177119, GeneCard:ANO6, HGNC:HGNC:25240, NCBI Gene:196527, OMIM:608663, RefSeq DNA:NT_029419, RefSeq Protein:NP_001020527, RefSeq Protein:NP_001136150, RefSeq Protein:NP_001136151, RefSeq Protein:NP_001136152, RefSeq Protein:NP_001191732, RefSeq RNA:NM_001025356, RefSeq RNA:NM_001142678, RefSeq RNA:NM_001142679, RefSeq RNA:NM_001142680, RefSeq RNA:NM_001204803, UniProtKB:B3KX12, UniProtKB:B4DZA5, UniProtKB:Q4KMQ2 No chr12 45609770 45834187 45215987 45440404 +PA32980 50636 HGNC:31677 ENSG00000146205 anoctamin 7 ANO7 IPCA-5, NGEP, PCANAP5, PCANAP5L, TMEM16G Yes No Ensembl:ENSG00000146205, GenAtlas:TMEM16G, GeneCard:ANO7, GeneCard:TMEM16G, HGNC:HGNC:31677, NCBI Gene:50636, OMIM:605096, RefSeq DNA:NT_005416, RefSeq Protein:NP_001001666, RefSeq Protein:NP_001357623, RefSeq RNA:NM_001001666, RefSeq RNA:NM_001370694, UniProtKB:Q6IWH7 No chr2 242127924 242164791 241188509 241239602 +PA164715790 57719 HGNC:29329 ENSG00000074855 anoctamin 8 ANO8 KIAA1623, TMEM16H Yes No Ensembl:ENSG00000074855, GeneCard:ANO8, HGNC:HGNC:29329, ModBase:Q9HCE9, NCBI Gene:57719, OMIM:610216, RefSeq DNA:NT_011295, RefSeq Protein:NP_066010, RefSeq RNA:NM_020959, UniProtKB:Q9HCE9 No chr19 17434032 17445638 17323223 17334834 +PA164715791 338440 HGNC:20679 ENSG00000185101 anoctamin 9 ANO9 PIG5, TMEM16J, TP53I5 Yes No Ensembl:ENSG00000185101, GeneCard:ANO9, HGNC:HGNC:20679, NCBI Gene:338440, RefSeq DNA:NT_009237, RefSeq DNA:NT_035113, RefSeq Protein:NP_001012302, RefSeq RNA:NM_001012302, UniProtKB:A1A5B4 No chr11 417930 442011 417930 442011 +PA30012 3730 HGNC:6211 ENSG00000011201 anosmin 1 ANOS1 """Adhesion molecule-like, X-linked"", ""Kallmann syndrome 1 sequence"", ""Kallmann syndrome interval gene 1"", ""WAP four-disulfide core domain 19"", ""anosmin-1""" ADMLX, KAL, KAL1, KALIG-1, WFDC19 Yes Yes Comparative Toxicogenomics Database:3730, Ensembl:ENSG00000011201, GenAtlas:KAL1, GeneCard:KAL1, HGNC:HGNC:6211, HumanCyc Gene:HS00307, ModBase:P23352, NCBI Gene:3730, OMIM:308700, RefSeq DNA:NG_007088, RefSeq DNA:NT_167197, RefSeq Protein:NP_000207, RefSeq RNA:NM_000216, UCSC Genome Browser:NM_000216, UniProtKB:P23352 No chrX 8496915 8700227 8528874 8732187 +PA24811 8125 HGNC:13233 ENSG00000140350 acidic nuclear phosphoprotein 32 family member A ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A C15orf1, I1PP2A, LANP, MAPM, PHAPI, PP32, mapmodulin Yes No Comparative Toxicogenomics Database:8125, Ensembl:ENSG00000140350, GenAtlas:ANP32A, GeneCard:ANP32A, HGNC:HGNC:13233, HumanCyc Gene:HS06704, ModBase:P39687, NCBI Gene:8125, OMIM:600832, RefSeq DNA:NT_010194, RefSeq Protein:NP_006296, RefSeq RNA:NM_006305, UCSC Genome Browser:NM_006305, UniProtKB:P39687 No chr15 69070874 69113261 68778535 68820922 +PA134978741 80035 HGNC:25672 ANP32A intronic transcript 1 (non-protein coding) ANP32A-IT1 FLJ11722, HsT18971 Yes No GeneCard:C15orf28, HGNC:HGNC:25672, NCBI Gene:80035, RefSeq DNA:NT_010194, RefSeq RNA:NR_026808 No chr15 69096160 69099440 68803821 68807101 +PA24812 10541 HGNC:16677 ENSG00000136938 acidic nuclear phosphoprotein 32 family member B ANP32B """acidic (leucine-rich) nuclear phosphoprotein 32 family, member B"", ""acidic protein rich in leucines""" APRIL, PHAPI2, SSP29 Yes No Comparative Toxicogenomics Database:10541, Ensembl:ENSG00000136938, GenAtlas:ANP32B, GeneCard:ANP32B, HGNC:HGNC:16677, HumanCyc Gene:HS06252, ModBase:Q92688, NCBI Gene:10541, RefSeq DNA:NT_008470, RefSeq Protein:NP_006392, RefSeq RNA:NM_006401, UCSC Genome Browser:NM_006401, UniProtKB:Q92688 No chr9 100745479 100780860 97983207 98015943 +PA24813 23520 HGNC:16675 ENSG00000248546 acidic (leucine-rich) nuclear phosphoprotein 32 family, member C ANP32C PP32R1 Yes No Ensembl:ENSG00000248546, GenAtlas:ANP32C, GeneCard:ANP32C, HGNC:HGNC:16675, ModBase:O43423, NCBI Gene:23520, OMIM:606877, RefSeq DNA:NT_016354, RefSeq Protein:NP_036535, RefSeq RNA:NM_012403, UCSC Genome Browser:NM_012403, UniProtKB:O43423 No chr4 165118159 165118863 164197007 164197711 +PA24814 23519 HGNC:16676 ENSG00000139223 acidic nuclear phosphoprotein 32 family member D ANP32D """acidic (leucine-rich) nuclear phosphoprotein 32 family, member D"", ""pp32 related 2""" PP32R2 Yes No Ensembl:ENSG00000139223, GenAtlas:ANP32D, GeneCard:ANP32D, HGNC:HGNC:16676, HumanCyc Gene:HS06599, ModBase:O95626, NCBI Gene:23519, OMIM:606878, RefSeq DNA:NT_029419, RefSeq Protein:NP_036536, RefSeq RNA:NM_012404, UCSC Genome Browser:NM_012404, UniProtKB:O95626 No chr12 48866448 48866843 48472665 48473060 +PA134880751 81611 HGNC:16673 ENSG00000143401 acidic nuclear phosphoprotein 32 family member E ANP32E acidic (leucine-rich) nuclear phosphoprotein 32 family, member E LANP-L, LANPL, MGC5350 Yes No Comparative Toxicogenomics Database:81611, Ensembl:ENSG00000143401, GeneCard:ANP32E, HGNC:HGNC:16673, HumanCyc Gene:HS13963, ModBase:Q9BTT0, NCBI Gene:81611, OMIM:609611, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129950, RefSeq Protein:NP_001129951, RefSeq Protein:NP_112182, RefSeq RNA:NM_001136478, RefSeq RNA:NM_001136479, RefSeq RNA:NM_030920, UniProtKB:B4E0I6, UniProtKB:Q5TB20, UniProtKB:Q9BTT0 No chr1 150190717 150208504 150218417 150236156 +PA24815 290 HGNC:500 ENSG00000166825 alanyl aminopeptidase, membrane ANPEP alanyl (membrane) aminopeptidase, aminopeptidase M, aminopeptidase N, membrane alanyl aminopeptidase, microsomal aminopeptidase AP-N, CD13, LAP1, PEPN, gp150, hAPN, p150 Yes No Comparative Toxicogenomics Database:290, Ensembl:ENSG00000166825, GenAtlas:ANPEP, GeneCard:ANPEP, HGNC:HGNC:500, HumanCyc Gene:HS09457, ModBase:P15144, NCBI Gene:290, OMIM:151530, RefSeq DNA:NT_010274, RefSeq Protein:NP_001141, RefSeq RNA:NM_001150, UCSC Genome Browser:NM_001150, UniProtKB:P15144, UniProtKB:Q59E93 No chr15 90328126 90358119 89784895 89814852 +PA166352081 65990 HGNC:14152 adenine nucleotide translocase lysine methyltransferase ANTKMT C16orf24, FAM173A, MGC2494 Yes No HGNC:HGNC:14152, NCBI Gene:65990 No 0 0 0 0 +PA134956382 84168 HGNC:21014 ENSG00000169604 ANTXR cell adhesion molecule 1 ANTXR1 anthrax toxin receptor, anthrax toxin receptor 1, tumor endothelial marker 8 precursor ATR, FLJ10601, FLJ21776, TEM8 Yes No Comparative Toxicogenomics Database:84168, Ensembl:ENSG00000169604, GeneCard:ANTXR1, HGNC:HGNC:21014, HumanCyc Gene:HS09976, ModBase:Q9H6X2, NCBI Gene:84168, OMIM:602089, OMIM:606410, RefSeq DNA:NG_012649, RefSeq DNA:NT_022184, RefSeq Protein:NP_060623, RefSeq Protein:NP_115584, RefSeq Protein:NP_444262, RefSeq RNA:NM_018153, RefSeq RNA:NM_032208, RefSeq RNA:NM_053034, UniProtKB:Q53FL1, UniProtKB:Q96EC6, UniProtKB:Q9H6X2 No chr2 69240276 69476459 69013144 69249327 +PA128394752 118429 HGNC:21732 ENSG00000163297 ANTXR cell adhesion molecule 2 ANTXR2 anthrax toxin receptor 2, capillary morphogenesis protein 2 CMG-2, CMG2, FLJ31074 Yes No Comparative Toxicogenomics Database:118429, Ensembl:ENSG00000163297, GeneCard:ANTXR2, HGNC:HGNC:21732, HumanCyc Gene:HS08824, ModBase:P58335, NCBI Gene:118429, OMIM:228600, OMIM:236490, OMIM:608041, RefSeq DNA:NG_015987, RefSeq DNA:NT_016354, RefSeq Protein:NP_001139266, RefSeq Protein:NP_477520, RefSeq RNA:NM_001145794, RefSeq RNA:NM_058172, UCSC Genome Browser:NM_058172, UniProtKB:P58335 No chr4 80822771 80994626 79901617 80073472 +PA142672602 195977 HGNC:27277 ENSG00000274209 ANTXR like ANTXRL anthrax toxin receptor-like Yes No Comparative Toxicogenomics Database:195977, Ensembl:ENSG00000274209, GeneCard:ANTXRL, HGNC:HGNC:27277, NCBI Gene:195977, RefSeq DNA:NT_077570, RefSeq RNA:NR_003601 No chr10 47658233 47701443 46286997 46330419 +PA24823 301 HGNC:533 ENSG00000135046 annexin A1 ANXA1 ANX1, LPC1 Yes No Comparative Toxicogenomics Database:301, Ensembl:ENSG00000135046, GenAtlas:ANXA1, GeneCard:ANXA1, HGNC:HGNC:533, HumanCyc Gene:HS05941, ModBase:P04083, NCBI Gene:301, OMIM:151690, RefSeq DNA:NT_008470, RefSeq Protein:NP_000691, RefSeq RNA:NM_000700, UCSC Genome Browser:NM_000700, UniProtKB:P04083, UniProtKB:Q5TZZ9 No chr9 75766721 75785309 73151731 73170393 +PA24824 11199 HGNC:534 ENSG00000109511 annexin A10 ANXA10 ANX14 Yes No Comparative Toxicogenomics Database:11199, Ensembl:ENSG00000109511, GenAtlas:ANXA10, GeneCard:ANXA10, HGNC:HGNC:534, HumanCyc Gene:HS03234, ModBase:Q9UJ72, NCBI Gene:11199, OMIM:608008, RefSeq DNA:NT_016354, RefSeq Protein:NP_009124, RefSeq RNA:NM_007193, UCSC Genome Browser:NM_007193, UniProtKB:Q9UJ72 No chr4 169013688 169108893 168092525 168187742 +PA24825 311 HGNC:535 ENSG00000122359 annexin A11 ANXA11 annexin XI ANX11 Yes Yes Comparative Toxicogenomics Database:311, Ensembl:ENSG00000122359, GenAtlas:ANXA11, GeneCard:ANXA11, HGNC:HGNC:535, HumanCyc Gene:HS04563, ModBase:P50995, NCBI Gene:311, OMIM:602572, RefSeq DNA:NT_030059, RefSeq Protein:NP_001148, RefSeq Protein:NP_665875, RefSeq Protein:NP_665876, RefSeq RNA:NM_001157, RefSeq RNA:NM_145868, RefSeq RNA:NM_145869, UCSC Genome Browser:NM_001157, UniProtKB:P50995, UniProtKB:Q5T0G8 No chr10 81914880 81965433 80153953 80205677 +PA24826 312 HGNC:536 ENSG00000104537 annexin A13 ANXA13 ANX13 Yes No Comparative Toxicogenomics Database:312, Ensembl:ENSG00000104537, GenAtlas:ANXA13, GeneCard:ANXA13, HGNC:HGNC:536, HumanCyc Gene:HS02594, NCBI Gene:312, OMIM:602573, RefSeq DNA:NT_008046, RefSeq Protein:NP_001003954, RefSeq Protein:NP_004297, RefSeq RNA:NM_001003954, RefSeq RNA:NM_004306, UCSC Genome Browser:NM_004306, UniProtKB:P27216 No chr8 124693034 124749647 123680794 123737426 +PA24827 302 HGNC:537 ENSG00000182718 annexin A2 ANXA2 annexin II ANX2, ANX2L4, CAL1H, LIP2, LPC2D Yes No Comparative Toxicogenomics Database:302, Ensembl:ENSG00000182718, GenAtlas:ANXA2, GeneCard:ANXA2, HGNC:HGNC:537, ModBase:P07355, NCBI Gene:302, OMIM:151740, RefSeq DNA:NT_010194, RefSeq Protein:NP_001002857, RefSeq Protein:NP_001002858, RefSeq Protein:NP_001129487, RefSeq Protein:NP_004030, RefSeq RNA:NM_001002857, RefSeq RNA:NM_001002858, RefSeq RNA:NM_001136015, RefSeq RNA:NM_004039, UCSC Genome Browser:NM_004039, UniProtKB:P07355 No chr15 60639350 60690185 60347151 60398025 +PA24828 303 HGNC:538 ENSG00000213406 annexin A2 pseudogene 1 ANXA2P1 Yes No Ensembl:ENSG00000213406, GenAtlas:ANXA2P1, GeneCard:ANXA2P1, HGNC:HGNC:538, NCBI Gene:303, RefSeq DNA:NT_016354, RefSeq RNA:NR_001562 No chr4 154228621 154229963 153307469 153308811 +PA24829 304 HGNC:539 ENSG00000231991 annexin A2 pseudogene 2 ANXA2P2 Yes No Ensembl:ENSG00000231991, GenAtlas:ANXA2P2, GeneCard:ANXA2P2, HGNC:HGNC:539, ModBase:A6NMY6, NCBI Gene:304, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413, RefSeq RNA:NR_003573 No chr9 33624223 33625532 33624225 33625534 +PA24830 305 HGNC:540 ENSG00000216740 annexin A2 pseudogene 3 ANXA2P3 LIP2 Yes No Ensembl:ENSG00000216740, GenAtlas:ANXA2P3, GeneCard:ANXA2P3, HGNC:HGNC:540, NCBI Gene:305, RefSeq DNA:NT_030059, RefSeq RNA:NR_001446 No chr10 66585285 66586634 64825528 64826877 +PA162380171 389289 HGNC:33463 ENSG00000177721 annexin A2 receptor ANXA2R AXIIR, C5orf39 Yes No Ensembl:ENSG00000177721, GeneCard:C5orf39, HGNC:HGNC:33463, NCBI Gene:389289, OMIM:611296, RefSeq DNA:NT_006576, RefSeq Protein:NP_001014301, RefSeq RNA:NM_001014279, UniProtKB:Q3ZCQ2 No chr5 43039182 43040447 43039080 43040345 +PA24831 306 HGNC:541 ENSG00000138772 annexin A3 ANXA3 ANX3 Yes No Comparative Toxicogenomics Database:306, Ensembl:ENSG00000138772, GenAtlas:ANXA3, GeneCard:ANXA3, HGNC:HGNC:541, HumanCyc Gene:HS06556, ModBase:P12429, NCBI Gene:306, OMIM:106490, RefSeq DNA:NT_016354, RefSeq Protein:NP_005130, RefSeq RNA:NM_005139, UCSC Genome Browser:NM_005139, UniProtKB:P12429 No chr4 79472742 79531605 78551588 78610451 +PA24832 307 HGNC:542 ENSG00000196975 annexin A4 ANXA4 ANX4 Yes No Comparative Toxicogenomics Database:307, Ensembl:ENSG00000196975, GenAtlas:ANXA4, GeneCard:ANXA4, HGNC:HGNC:542, ModBase:P09525, NCBI Gene:307, OMIM:106491, RefSeq DNA:NT_022184, RefSeq Protein:NP_001144, RefSeq RNA:NM_001153, UCSC Genome Browser:NM_001153, UniProtKB:P09525, UniProtKB:Q6LES2 No chr2 69947946 70053596 69643805 69826477 +PA24833 308 HGNC:543 ENSG00000164111 annexin A5 ANXA5 Calphobindin I, Placental anticoagulant protein I, Vascular anticoagulant-alpha, annexin V, endonexin II ANX5, CPB-I, ENX2, PAP-I, RPRGL3, VAC-alph Yes No Comparative Toxicogenomics Database:308, Ensembl:ENSG00000164111, GenAtlas:ANXA5, GeneCard:ANXA5, HGNC:HGNC:543, HumanCyc Gene:HS09017, ModBase:P08758, NCBI Gene:308, OMIM:131230, RefSeq DNA:NT_016354, RefSeq Protein:NP_001145, RefSeq RNA:NM_001154, UCSC Genome Browser:NM_001154, UniProtKB:P08758 No chr4 122589152 122618147 121667997 121696992 +PA24834 309 HGNC:544 ENSG00000197043 annexin A6 ANXA6 ANX6 Yes No Comparative Toxicogenomics Database:309, Ensembl:ENSG00000197043, GenAtlas:ANXA6, GeneCard:ANXA6, HGNC:HGNC:544, ModBase:P08133, NCBI Gene:309, OMIM:114070, RefSeq DNA:NT_029289, RefSeq Protein:NP_001146, RefSeq Protein:NP_001180473, RefSeq Protein:NP_004024, RefSeq RNA:NM_001155, RefSeq RNA:NM_001193544, RefSeq RNA:NM_004033, UCSC Genome Browser:NM_001155, UniProtKB:A6NN80, UniProtKB:P08133 No chr5 150480267 150537443 151100706 151157882 +PA24835 310 HGNC:545 ENSG00000138279 annexin A7 ANXA7 ANX7 Yes No Comparative Toxicogenomics Database:310, Ensembl:ENSG00000138279, GenAtlas:ANXA7, GeneCard:ANXA7, HGNC:HGNC:545, HumanCyc Gene:HS06478, ModBase:P20073, NCBI Gene:310, OMIM:186360, RefSeq DNA:NT_030059, RefSeq Protein:NP_001147, RefSeq Protein:NP_004025, RefSeq RNA:NM_001156, RefSeq RNA:NM_004034, UCSC Genome Browser:NM_001156, UniProtKB:B2R657, UniProtKB:P20073 No chr10 75135189 75173841 73375101 73414085 +PA24836 653145 HGNC:546 ENSG00000265190 annexin A8 ANXA8 ANX8 Yes No Comparative Toxicogenomics Database:244, Ensembl:ENSG00000265190, GenAtlas:ANXA8, GeneCard:ANXA8, HGNC:HGNC:546, ModBase:P13928, NCBI Gene:653145, OMIM:602396, RefSeq DNA:NT_030772, RefSeq Protein:NP_001035173, RefSeq RNA:NM_001040084, UCSC Genome Browser:NM_001630, UniProtKB:P13928 No chr10 48255204 48271369 47467993 47991879 +PA134881914 728113 HGNC:23334 ENSG00000264230 annexin A8 like 1 ANXA8L1 annexin A8-like 1 ANXA8L2, bA145E20.2, bA301J7.3 Yes No Comparative Toxicogenomics Database:653145, Ensembl:ENSG00000264230, GeneCard:ANXA8L1, HGNC:HGNC:23334, ModBase:Q5T2P8, NCBI Gene:728113, RefSeq DNA:NT_031847, RefSeq Protein:NP_001092315, RefSeq RNA:NM_001098845, UniProtKB:Q5T2P8 No chr10 47157983 47174180 46375590 46391784 +PA24837 8416 HGNC:547 ENSG00000143412 annexin A9 ANXA9 ANX31 Yes No Ensembl:ENSG00000143412, GenAtlas:ANXA9, GeneCard:ANXA9, HGNC:HGNC:547, HumanCyc Gene:HS07048, ModBase:O76027, NCBI Gene:8416, OMIM:603319, RefSeq DNA:NT_004487, RefSeq Protein:NP_003559, RefSeq RNA:NM_003568, UCSC Genome Browser:NM_003568, UniProtKB:O76027 No chr1 150954499 150968114 150982023 150995638 +PA24838 313 HGNC:548 ENSG00000136250 acyloxyacyl hydrolase AOAH acyloxyacyl hydrolase (neutrophil) Yes No Comparative Toxicogenomics Database:313, Ensembl:ENSG00000136250, GenAtlas:AOAH, GeneCard:AOAH, HGNC:HGNC:548, HumanCyc Gene:HS06138, ModBase:P28039, NCBI Gene:313, OMIM:102593, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001170977, RefSeq Protein:NP_001170978, RefSeq Protein:NP_001628, RefSeq RNA:NM_001177506, RefSeq RNA:NM_001177507, RefSeq RNA:NM_001637, UCSC Genome Browser:NM_001637, UniProtKB:B7Z490, UniProtKB:P28039 No chr7 36552549 36764154 36512042 36724549 +PA24416 26 HGNC:80 ENSG00000002726 amine oxidase copper containing 1 AOC1 """amiloride binding protein 1 (amine oxidase (copper-containing))"", ""amine oxidase, copper containing 1"", ""diamine oxidase""" ABP, ABP1, AOC1, DAO Yes Yes Comparative Toxicogenomics Database:26, Ensembl:ENSG00000002726, GenAtlas:ABP1, GeneCard:ABP1, HGNC:HGNC:80, HumanCyc Gene:HS00083, ModBase:P19801, NCBI Gene:26, OMIM:104610, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001082, RefSeq RNA:NM_001091, UCSC Genome Browser:NM_001091, UniProtKB:P19801 No chr7 150524336 150558379 150824875 150861291 +PA24839 314 HGNC:549 ENSG00000131480 amine oxidase copper containing 2 AOC2 """amine oxidase, copper containing 2"", ""amine oxidase, copper containing 2 (retina-specific)""" DAO2, RAO Yes No Ensembl:ENSG00000131480, GenAtlas:AOC2, GeneCard:AOC2, HGNC:HGNC:549, HumanCyc Gene:HS05537, ModBase:O75106, NCBI Gene:314, OMIM:602268, RefSeq DNA:NT_010783, RefSeq Protein:NP_001149, RefSeq Protein:NP_033720, RefSeq RNA:NM_001158, RefSeq RNA:NM_009590, UCSC Genome Browser:NM_001158, UniProtKB:O75106 No chr17 40996609 41002724 42844592 42850707 +PA24840 8639 HGNC:550 ENSG00000131471 amine oxidase copper containing 3 AOC3 """amine oxidase, copper containing 3"", ""amine oxidase, copper containing 3 (vascular adhesion protein 1)"", ""vascular adhesion protein 1""" HPAO, VAP-1, VAP1 Yes No Comparative Toxicogenomics Database:8639, Ensembl:ENSG00000131471, GenAtlas:AOC3, GeneCard:AOC3, HGNC:HGNC:550, HumanCyc Gene:HS05534, ModBase:Q16853, NCBI Gene:8639, OMIM:603735, RefSeq DNA:NT_010783, RefSeq Protein:NP_003725, RefSeq RNA:NM_003734, UCSC Genome Browser:NM_003734, UniProtKB:Q16853 No chr17 41003201 41010147 42851123 42858130 +PA25978 84909 HGNC:1361 ENSG00000148120 aminopeptidase O (putative) AOPEP aminopeptidase O, chromosome 9 open reading frame 3 AOPEP, AP-O, APO, C90RF3, C9orf3, FLJ14675 Yes No Comparative Toxicogenomics Database:84909, Ensembl:ENSG00000148120, GenAtlas:C9orf3, GeneCard:C9orf3, HGNC:HGNC:1361, HumanCyc Gene:HS07492, ModBase:Q8N6M6, NCBI Gene:84909, RefSeq DNA:NT_008470, RefSeq Protein:NP_001180258, RefSeq Protein:NP_001180259, RefSeq Protein:NP_001180260, RefSeq Protein:NP_116212, RefSeq RNA:NM_001193329, RefSeq RNA:NM_001193330, RefSeq RNA:NM_001193331, RefSeq RNA:NM_032823, UniProtKB:Q8N6M6 No chr9 97488886 97849500 94726604 95148264 +PA24842 316 HGNC:553 ENSG00000138356 aldehyde oxidase 1 AOX1 AO, AOH1 Yes Yes Comparative Toxicogenomics Database:316, Ensembl:ENSG00000138356, GenAtlas:AOX1, GeneCard:AOX1, HGNC:HGNC:553, HumanCyc Gene:HS06489, ModBase:Q06278, NCBI Gene:316, OMIM:602841, RefSeq DNA:NT_005403, RefSeq Protein:NP_001150, RefSeq RNA:NM_001159, UCSC Genome Browser:NM_001159, UniProtKB:Q06278, UniProtKB:Q9BYF0 No chr2 201450731 201536218 200585952 200677064 +PA24843 344454 HGNC:18450 ENSG00000243478 aldehyde oxidase 2 pseudogene AOX2P AOH2 Yes No Ensembl:ENSG00000243478, GenAtlas:AOX2, GeneCard:AOX2P, HGNC:HGNC:18450, NCBI Gene:344454, RefSeq DNA:NT_005403, RefSeq RNA:NR_001557 No chr2 201560446 201658946 200738639 200791636 +PA165663153 55435 HGNC:28808 ENSG00000138660 adaptor related protein complex 1 associated regulatory protein AP1AR adaptor-related protein complex 1 associated regulatory protein, gamma1-adaptin brefeldin A resistance 2C18, C4orf16, PRO0971, gamma-BAR Yes No Ensembl:ENSG00000138660, GeneCard:AP1AR, HGNC:HGNC:28808, HumanCyc Gene:HS13739, NCBI Gene:55435, OMIM:610851, RefSeq DNA:NT_016354, RefSeq Protein:NP_001121898, RefSeq Protein:NP_061039, RefSeq RNA:NM_001128426, RefSeq RNA:NM_018569, UniProtKB:Q63HQ0 No chr4 113152893 113191211 112231727 112273110 +PA24844 162 HGNC:554 ENSG00000100280 adaptor related protein complex 1 subunit beta 1 AP1B1 adaptor-related protein complex 1, beta 1 subunit ADTB1, AP105A, BAM22, CLAPB2 Yes No Comparative Toxicogenomics Database:162, Ensembl:ENSG00000100280, GenAtlas:AP1B1, GeneCard:AP1B1, HGNC:HGNC:554, HumanCyc Gene:HS02021, ModBase:Q10567, NCBI Gene:162, OMIM:600157, RefSeq DNA:NT_011520, RefSeq Protein:NP_001118, RefSeq Protein:NP_001159491, RefSeq Protein:NP_663782, RefSeq RNA:NM_001127, RefSeq RNA:NM_001166019, RefSeq RNA:NM_145730, UCSC Genome Browser:NM_001127, UniProtKB:Q10567, UniProtKB:Q86X54 No chr22 29723669 29784754 29327680 29388583 +PA24602 23782 HGNC:297 ENSG00000234479 adaptor-related protein complex 1, beta 1 subunit pseudogene 1 AP1B1P1 dJ127L4.2 Yes No Ensembl:ENSG00000234479, GenAtlas:ADTB1L1, GeneCard:AP1B1P1, HGNC:HGNC:297, NCBI Gene:23782, RefSeq DNA:NG_002625, RefSeq DNA:NT_011520, RefSeq RNA:NR_040114 No chr22 32517964 32529456 32121977 32133469 +PA24603 23781 HGNC:298 ENSG00000232707 adaptor-related protein complex 1, beta 1 subunit pseudogene 2 AP1B1P2 dJ127L4.3 Yes No Ensembl:ENSG00000232707, GenAtlas:ADTB1L2, GeneCard:AP1B1P2, HGNC:HGNC:298, NCBI Gene:23781, RefSeq DNA:NG_002624, RefSeq DNA:NT_011520 No chr22 32530015 32530116 32134028 32134129 +PA24845 164 HGNC:555 ENSG00000166747 adaptor related protein complex 1 subunit gamma 1 AP1G1 """adaptor-related protein complex 1, gamma 1 subunit"", ""gamma1-adaptin""" ADTG, CLAPG1 Yes No Comparative Toxicogenomics Database:164, Ensembl:ENSG00000166747, GenAtlas:AP1G1, GeneCard:AP1G1, HGNC:HGNC:555, HumanCyc Gene:HS09446, ModBase:O43747, NCBI Gene:164, OMIM:603533, RefSeq DNA:NT_010498, RefSeq Protein:NP_001025178, RefSeq Protein:NP_001119, RefSeq RNA:NM_001030007, RefSeq RNA:NM_001128, UCSC Genome Browser:NM_001128, UniProtKB:O43747, UniProtKB:Q8IY97 No chr16 71762903 71843006 71729000 71809073 +PA24846 8906 HGNC:556 ENSG00000213983 adaptor related protein complex 1 subunit gamma 2 AP1G2 adaptor-related protein complex 1, gamma 2 subunit G2AD Yes No Ensembl:ENSG00000213983, GenAtlas:AP1G2, GeneCard:AP1G2, HGNC:HGNC:556, HumanCyc Gene:HS01753, ModBase:O75843, NCBI Gene:8906, OMIM:603534, RefSeq DNA:NG_011937, RefSeq DNA:NT_026437, RefSeq Protein:NP_003908, RefSeq RNA:NM_003917, UCSC Genome Browser:NM_003917, UniProtKB:O75843 No chr14 24028777 24038754 23559563 23569056 +PA24848 8907 HGNC:13667 ENSG00000072958 adaptor related protein complex 1 subunit mu 1 AP1M1 adaptor-related protein complex 1, mu 1 subunit AP47, CLAPM2, mu1A Yes No Comparative Toxicogenomics Database:8907, Ensembl:ENSG00000072958, GenAtlas:AP1M1, GeneCard:AP1M1, HGNC:HGNC:13667, HumanCyc Gene:HS01089, ModBase:Q9BXS5, NCBI Gene:8907, OMIM:603535, RefSeq DNA:NT_011295, RefSeq Protein:NP_001123996, RefSeq Protein:NP_115882, RefSeq RNA:NM_001130524, RefSeq RNA:NM_032493, UCSC Genome Browser:NM_032493, UniProtKB:B3KNH5, UniProtKB:Q4TTY5, UniProtKB:Q59EK3, UniProtKB:Q9BXS5 No chr19 16308665 16346156 16197854 16235345 +PA24849 10053 HGNC:558 ENSG00000129354 adaptor related protein complex 1 subunit mu 2 AP1M2 adaptor-related protein complex 1, mu 2 subunit AP1-mu2, HSMU1B, mu2 Yes No Comparative Toxicogenomics Database:10053, Ensembl:ENSG00000129354, GenAtlas:AP1M2, GeneCard:AP1M2, HGNC:HGNC:558, HumanCyc Gene:HS05273, ModBase:Q9Y6Q5, NCBI Gene:10053, OMIM:607309, RefSeq DNA:NT_011295, RefSeq Protein:NP_005489, RefSeq RNA:NM_005498, UCSC Genome Browser:NM_005498, UniProtKB:Q9Y6Q5 No chr19 10683347 10697991 10572671 10587315 +PA24850 1174 HGNC:559 ENSG00000106367 adaptor related protein complex 1 subunit sigma 1 AP1S1 """AP-1 complex subunit sigma-1A"", ""HA1 19 kDa subunit"", ""adaptor-related protein complex 1, sigma 1 subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""clathrin coat assembly protein AP19"", ""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""sigma1A-adaptin""" AP19, CLAPS1, EKV3, SIGMA1A, WUGSC:H_DJ0747G18.2 Yes No Comparative Toxicogenomics Database:1174, Ensembl:ENSG00000106367, GenAtlas:AP1S1, GeneCard:AP1S1, HGNC:HGNC:559, HumanCyc Gene:HS02900, ModBase:P61966, NCBI Gene:1174, OMIM:603531, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001274, RefSeq RNA:NM_001283, UCSC Genome Browser:NM_001283, UniProtKB:P61966 No chr7 100797685 100804557 101154405 101161276 +PA24851 8905 HGNC:560 ENSG00000182287 adaptor related protein complex 1 subunit sigma 2 AP1S2 adaptor-related protein complex 1, sigma 2 subunit MRX59, MRXS5, PGS, SIGMA1B Yes No Comparative Toxicogenomics Database:8905, Ensembl:ENSG00000182287, GenAtlas:AP1S2, GeneCard:AP1S2, HGNC:HGNC:560, ModBase:P56377, NCBI Gene:8905, OMIM:300629, OMIM:300630, RefSeq DNA:NG_009274, RefSeq DNA:NT_167197, RefSeq Protein:NP_003907, RefSeq RNA:NM_003916, UCSC Genome Browser:NM_003916, UniProtKB:P56377, UniProtKB:Q549M9 No chrX 15843929 15873137 15825806 15855014 +PA134866785 130340 HGNC:18971 ENSG00000152056 adaptor related protein complex 1 subunit sigma 3 AP1S3 """AP-1 complex subunit sigma 3"", ""adaptor-related protein complex 1, sigma 3 subunit""" sigma1C Yes No Ensembl:ENSG00000152056, GeneCard:AP1S3, HGNC:HGNC:18971, HumanCyc Gene:HS07788, ModBase:Q96PC3, NCBI Gene:130340, RefSeq DNA:NT_005403, RefSeq Protein:NP_001034658, RefSeq RNA:NM_001039569 No chr2 224616403 224702319 223755330 223837602 +PA24852 160 HGNC:561 ENSG00000196961 adaptor related protein complex 2 subunit alpha 1 AP2A1 adaptor-related protein complex 2, alpha 1 subunit ADTAA, CLAPA1 Yes No Comparative Toxicogenomics Database:160, Ensembl:ENSG00000196961, GenAtlas:AP2A1, GeneCard:AP2A1, HGNC:HGNC:561, ModBase:O95782, NCBI Gene:160, OMIM:601026, RefSeq DNA:NT_011109, RefSeq Protein:NP_055018, RefSeq Protein:NP_570603, RefSeq RNA:NM_014203, RefSeq RNA:NM_130787, UCSC Genome Browser:NM_014203, UniProtKB:O95782 No chr19 50270180 50310369 49766923 49807114 +PA24853 161 HGNC:562 ENSG00000183020 adaptor related protein complex 2 subunit alpha 2 AP2A2 """adaptin, alpha B"", ""adaptor-related protein complex 2, alpha 2 subunit"", ""alpha-adaptin C; Huntingtin interacting protein J"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2""" ADTAB, CLAPA2, DKFZP564D1864, HIP9, HYPJ, KIAA0899 Yes No Comparative Toxicogenomics Database:161, Ensembl:ENSG00000183020, GenAtlas:AP2A2, GeneCard:AP2A2, HGNC:HGNC:562, ModBase:O94973, NCBI Gene:161, OMIM:607242, RefSeq DNA:NT_009237, RefSeq Protein:NP_001229766, RefSeq Protein:NP_036437, RefSeq RNA:NM_001242837, RefSeq RNA:NM_012305, UCSC Genome Browser:NM_012305, UniProtKB:O94973 No chr11 925809 1012245 925809 1012245 +PA24854 163 HGNC:563 ENSG00000006125 adaptor related protein complex 2 subunit beta 1 AP2B1 """adaptor-related protein complex 2, beta 1 subunit"", ""beta2-adaptin""" ADTB2, CLAPB1 Yes No Comparative Toxicogenomics Database:163, Ensembl:ENSG00000006125, GenAtlas:AP2B1, GeneCard:AP2B1, HGNC:HGNC:563, HumanCyc Gene:HS00168, ModBase:P63010, NCBI Gene:163, OMIM:601025, RefSeq DNA:NT_010799, RefSeq Protein:NP_001025177, RefSeq Protein:NP_001273, RefSeq RNA:NM_001030006, RefSeq RNA:NM_001282, UCSC Genome Browser:NM_001282, UniProtKB:P63010, UniProtKB:Q96EL6 No chr17 33913918 34053436 35586899 35726417 +PA24855 1173 HGNC:564 ENSG00000161203 adaptor related protein complex 2 subunit mu 1 AP2M1 """AP-2 mu 2 chain"", ""HA2 50 kDA subunit"", ""adaptor-related protein complex 2, mu 1 subunit"", ""clathrin adaptor complex AP2, mu subunit"", ""clathrin assembly protein complex 2 medium chain"", ""clathrin coat adaptor protein AP50"", ""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein""" AP50, CLAPM1, mu2 Yes No Comparative Toxicogenomics Database:1173, Ensembl:ENSG00000161203, GenAtlas:AP2M1, GeneCard:AP2M1, HGNC:HGNC:564, HumanCyc Gene:HS08575, ModBase:Q96CW1, NCBI Gene:1173, OMIM:601024, RefSeq DNA:NT_005612, RefSeq Protein:NP_001020376, RefSeq Protein:NP_004059, RefSeq RNA:NM_001025205, RefSeq RNA:NM_004068, UCSC Genome Browser:NM_004068, UniProtKB:Q96CW1 No chr3 183892634 183901879 184174846 184184091 +PA24856 1175 HGNC:565 ENSG00000042753 adaptor related protein complex 2 subunit sigma 1 AP2S1 """adaptor-related protein complex 2, sigma 1 subunit"", ""sigma-2""" CLAPS2, FBH3, FBHOk, HHC3 Yes No Comparative Toxicogenomics Database:1175, Ensembl:ENSG00000042753, GenAtlas:AP2S1, GeneCard:AP2S1, HGNC:HGNC:565, HumanCyc Gene:HS00562, ModBase:P53680, NCBI Gene:1175, OMIM:602242, RefSeq DNA:NT_011109, RefSeq Protein:NP_004060, RefSeq Protein:NP_067586, RefSeq RNA:NM_004069, RefSeq RNA:NM_021575, UCSC Genome Browser:NM_004069, UniProtKB:P53680 No chr19 47341423 47354203 46838158 46850995 +PA24857 8546 HGNC:566 ENSG00000132842 adaptor related protein complex 3 subunit beta 1 AP3B1 """adaptor-related protein complex 3, beta 1 subunit"", ""beta-3A""" ADTB3A, HPS2 Yes No Comparative Toxicogenomics Database:8546, Ensembl:ENSG00000132842, GenAtlas:AP3B1, GeneCard:AP3B1, HGNC:HGNC:566, HumanCyc Gene:HS05697, ModBase:O00203, NCBI Gene:8546, OMIM:603401, OMIM:608233, RefSeq DNA:NG_007268, RefSeq DNA:NT_006713, RefSeq Protein:NP_003655, RefSeq RNA:NM_003664, UCSC Genome Browser:NM_003664, UniProtKB:O00203 No chr5 77298150 77590579 78002326 78294755 +PA24858 8120 HGNC:567 ENSG00000103723 adaptor related protein complex 3 subunit beta 2 AP3B2 adaptor-related protein complex 3, beta 2 subunit NAPTB Yes No Comparative Toxicogenomics Database:8120, Ensembl:ENSG00000103723, GenAtlas:AP3B2, GeneCard:AP3B2, HGNC:HGNC:567, ModBase:Q13367, NCBI Gene:8120, OMIM:602166, RefSeq DNA:NT_077661, RefSeq Protein:NP_004635, RefSeq RNA:NM_004644, UCSC Genome Browser:NM_004644, UniProtKB:Q13367 No chr15 83328033 83378660 82659281 82710112 +PA24859 8943 HGNC:568 ENSG00000065000 adaptor related protein complex 3 subunit delta 1 AP3D1 adaptor-related protein complex 3, delta 1 subunit ADTD Yes No Comparative Toxicogenomics Database:8943, Ensembl:ENSG00000065000, GenAtlas:AP3D1, GeneCard:AP3D1, HGNC:HGNC:568, HumanCyc Gene:HS00825, ModBase:O14617, NCBI Gene:8943, OMIM:607246, RefSeq DNA:NT_011255, RefSeq Protein:NP_001070991, RefSeq Protein:NP_003929, RefSeq RNA:NM_001077523, RefSeq RNA:NM_003938, UCSC Genome Browser:NM_003938, UniProtKB:O14617, UniProtKB:Q6PK82 No chr19 2100987 2151556 2100988 2151620 +PA24860 26985 HGNC:569 ENSG00000185009 adaptor related protein complex 3 subunit mu 1 AP3M1 adaptor-related protein complex 3, mu 1 subunit Yes No Comparative Toxicogenomics Database:26985, Ensembl:ENSG00000185009, GenAtlas:AP3M1, GeneCard:AP3M1, HGNC:HGNC:569, ModBase:Q9Y2T2, NCBI Gene:26985, OMIM:610366, RefSeq DNA:NT_030059, RefSeq Protein:NP_036227, RefSeq Protein:NP_996895, RefSeq RNA:NM_012095, RefSeq RNA:NM_207012, UCSC Genome Browser:NM_012095, UniProtKB:Q9Y2T2 No chr10 75880015 75910826 74120257 74151085 +PA24861 10947 HGNC:570 ENSG00000070718 adaptor related protein complex 3 subunit mu 2 AP3M2 adaptor-related protein complex 3, mu 2 subunit AP47B, CLA20 Yes No Ensembl:ENSG00000070718, GenAtlas:AP3M2, GeneCard:AP3M2, HGNC:HGNC:570, HumanCyc Gene:HS01003, ModBase:P53677, NCBI Gene:10947, OMIM:610469, RefSeq DNA:NT_167187, RefSeq Protein:NP_001127768, RefSeq Protein:NP_006794, RefSeq RNA:NM_001134296, RefSeq RNA:NM_006803, UCSC Genome Browser:NM_006803, UniProtKB:P53677 No chr8 42010464 42028701 42152946 42171183 +PA24862 1176 HGNC:2013 ENSG00000177879 adaptor related protein complex 3 subunit sigma 1 AP3S1 adaptor-related protein complex 3, sigma 1 subunit CLAPS3 Yes No Comparative Toxicogenomics Database:1176, Ensembl:ENSG00000177879, GenAtlas:AP3S1, GeneCard:AP3S1, HGNC:HGNC:2013, HumanCyc Gene:HS11225, ModBase:Q92572, NCBI Gene:1176, OMIM:601507, RefSeq DNA:NT_034772, RefSeq Protein:NP_001275, RefSeq RNA:NM_001284, UCSC Genome Browser:NM_001284, UniProtKB:Q92572 No chr5 115177303 115249778 115841606 115914081 +PA24863 10239 HGNC:571 ENSG00000157823 adaptor related protein complex 3 subunit sigma 2 AP3S2 adaptor-related protein complex 3, sigma 2 subunit sigma3b Yes No Ensembl:ENSG00000157823, GenAtlas:AP3S2, GeneCard:AP3S2, HGNC:HGNC:571, HumanCyc Gene:HS08242, ModBase:P59780, NCBI Gene:10239, OMIM:602416, RefSeq DNA:NT_010274, RefSeq Protein:NP_005820, RefSeq RNA:NM_005829, RefSeq RNA:NR_023361, RefSeq RNA:NR_037582, UCSC Genome Browser:NM_005829, UniProtKB:P59780 No chr15 90373831 90437617 89830599 89894385 +PA24864 10717 HGNC:572 ENSG00000134262 adaptor related protein complex 4 subunit beta 1 AP4B1 """AP-4 complex subunit beta-1"", ""adaptor-related protein complex 4, beta 1 subunit"", ""beta 4 subunit of AP-4""" BETA-4, SPG47 Yes No Ensembl:ENSG00000134262, GenAtlas:AP4B1, GeneCard:AP4B1, HGNC:HGNC:572, HumanCyc Gene:HS05848, ModBase:Q9Y6B7, NCBI Gene:10717, OMIM:607245, RefSeq DNA:NT_032977, RefSeq Protein:NP_006585, RefSeq RNA:NM_006594, UCSC Genome Browser:NM_006594, UniProtKB:Q9Y6B7 No chr1 114437370 114447741 113894194 113905202 +PA24865 23431 HGNC:573 ENSG00000081014 adaptor related protein complex 4 subunit epsilon 1 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit AP-4-EPSILON, SPG51 Yes No Ensembl:ENSG00000081014, GenAtlas:AP4E1, GeneCard:AP4E1, HGNC:HGNC:573, HumanCyc Gene:HS01378, ModBase:Q9UPM8, NCBI Gene:23431, OMIM:607244, RefSeq DNA:NT_010194, RefSeq Protein:NP_031373, RefSeq RNA:NM_007347, UCSC Genome Browser:NM_007347, UniProtKB:Q9UPM8 No chr15 51200780 51298097 50908569 51005900 +PA24866 9179 HGNC:574 ENSG00000221838 adaptor related protein complex 4 subunit mu 1 AP4M1 """AP-4 adapter complex mu subunit"", ""adaptor-related protein complex 4, mu 1 subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"", ""mu subunit of AP-4"", ""mu-adaptin-related protein-2""" MU-4, MU-ARP2, SPG50 Yes No Ensembl:ENSG00000221838, GenAtlas:AP4M1, GeneCard:AP4M1, HGNC:HGNC:574, ModBase:O00189, NCBI Gene:9179, OMIM:602296, OMIM:612936, RefSeq DNA:NG_016312, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_004713, RefSeq RNA:NM_004722, UCSC Genome Browser:NM_004722, UniProtKB:O00189 No chr7 99699130 99704803 100101413 100107180 +PA24867 11154 HGNC:575 ENSG00000100478 adaptor related protein complex 4 subunit sigma 1 AP4S1 adaptor-related protein complex 4, sigma 1 subunit AP47B, CLA20, SPG52 Yes No Comparative Toxicogenomics Database:11154, Ensembl:ENSG00000100478, GenAtlas:AP4S1, GeneCard:AP4S1, HGNC:HGNC:575, HumanCyc Gene:HS02094, ModBase:Q9Y587, NCBI Gene:11154, OMIM:607243, RefSeq DNA:NT_026437, RefSeq Protein:NP_001121598, RefSeq Protein:NP_009008, RefSeq RNA:NM_001128126, RefSeq RNA:NM_007077, UCSC Genome Browser:NM_007077, UniProtKB:Q9BVE7, UniProtKB:Q9Y587 No chr14 31494312 31565656 31025106 31096450 +PA166048967 91056 HGNC:25104 ENSG00000254470 adaptor related protein complex 5 subunit beta 1 AP5B1 adaptor-related protein complex 5, beta 1 subunit AP-5, DKFZp761E198, PP1030 Yes No Ensembl:ENSG00000254470, HGNC:HGNC:25104, NCBI Gene:91056 No chr11 65541369 65548062 65773898 65780591 +PA164723216 55745 HGNC:20192 ENSG00000053770 adaptor related protein complex 5 subunit mu 1 AP5M1 """Mu-2 related death-inducing gene"", ""adaptor-related protein complex 5, mu 1 subunit""" C14orf108, FLJ10813, MUDENG, MuD, mu5 Yes No Ensembl:ENSG00000053770, GeneCard:MUDENG, HGNC:HGNC:20192, HumanCyc Gene:HS12133, NCBI Gene:55745, RefSeq DNA:NT_026437, RefSeq Protein:NP_060699, RefSeq RNA:NM_018229, RefSeq RNA:NR_026895, UniProtKB:Q9H0R1 No chr14 57735606 57756797 57268888 57298742 +PA25744 55317 HGNC:15875 ENSG00000125843 adaptor related protein complex 5 subunit sigma 1 AP5S1 adaptor-related protein complex 5, sigma 1 subunit C20orf29, FLJ11168 Yes No Ensembl:ENSG00000125843, GenAtlas:C20orf29, GeneCard:C20orf29, HGNC:HGNC:15875, HumanCyc Gene:HS13180, ModBase:Q9NUS5, NCBI Gene:55317, RefSeq DNA:NT_011387, RefSeq Protein:NP_001191375, RefSeq Protein:NP_001191376, RefSeq Protein:NP_060817, RefSeq RNA:NM_001204446, RefSeq RNA:NM_001204447, RefSeq RNA:NM_018347, UCSC Genome Browser:NM_018347, UniProtKB:Q9NUS5 No chr20 3801171 3805954 3820524 3825307 +PA162392841 9907 HGNC:22197 ENSG00000242802 adaptor related protein complex 5 subunit zeta 1 AP5Z1 adaptor-related protein complex 5, zeta 1 subunit KIAA0415, SPG48, zeta Yes No Ensembl:ENSG00000242802, GeneCard:KIAA0415, HGNC:HGNC:22197, ModBase:O43299, NCBI Gene:9907, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_055670, RefSeq RNA:NM_014855, UniProtKB:O43299 No chr7 4815262 4834026 4775617 4794395 +PA24868 317 HGNC:576 ENSG00000120868 apoptotic peptidase activating factor 1 APAF1 APAF-1, CED4 Yes No Comparative Toxicogenomics Database:317, Ensembl:ENSG00000120868, GenAtlas:APAF1, GeneCard:APAF1, HGNC:HGNC:576, HumanCyc Gene:HS04442, ModBase:Q9UJ66, NCBI Gene:317, OMIM:602233, RefSeq DNA:NT_029419, RefSeq Protein:NP_001151, RefSeq Protein:NP_037361, RefSeq Protein:NP_863651, RefSeq Protein:NP_863658, RefSeq Protein:NP_863659, RefSeq RNA:NM_001160, RefSeq RNA:NM_013229, RefSeq RNA:NM_181861, RefSeq RNA:NM_181868, RefSeq RNA:NM_181869, UCSC Genome Browser:NM_001160, UniProtKB:O14727 No chr12 99039078 99129211 98645141 98735433 +PA24869 320 HGNC:578 ENSG00000107282 amyloid beta precursor protein binding family A member 1 APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 D9S411E, MINT1, X11 Yes No Comparative Toxicogenomics Database:320, Ensembl:ENSG00000107282, GenAtlas:APBA1, GeneCard:APBA1, HGNC:HGNC:578, HumanCyc Gene:HS02986, ModBase:Q02410, NCBI Gene:320, OMIM:602414, RefSeq DNA:NT_008470, RefSeq Protein:NP_001154, RefSeq RNA:NM_001163, UCSC Genome Browser:NM_001163, UniProtKB:Q02410 No chr9 72042448 72287275 69427532 69673012 +PA24870 321 HGNC:579 ENSG00000034053 amyloid beta precursor protein binding family A member 2 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 D15S1518E, HsT16821, LIN-10, MGC:14091, MINT2, X11L Yes No Ensembl:ENSG00000034053, GenAtlas:APBA2, GeneCard:APBA2, HGNC:HGNC:579, HumanCyc Gene:HS00496, ModBase:Q99767, NCBI Gene:321, OMIM:602712, RefSeq DNA:NT_010194, RefSeq Protein:NP_001123886, RefSeq Protein:NP_005494, RefSeq RNA:NM_001130414, RefSeq RNA:NM_005503, UCSC Genome Browser:NM_005503, UniProtKB:Q59G28, UniProtKB:Q5XKC0, UniProtKB:Q99767 No chr15 29211570 29410518 28885479 29118315 +PA24872 9546 HGNC:580 ENSG00000011132 amyloid beta precursor protein binding family A member 3 APBA3 """X11-like 2"", ""amyloid beta (A4) precursor protein-binding, family A, member 3""" X11L2, mint3 Yes No Comparative Toxicogenomics Database:9546, Ensembl:ENSG00000011132, GenAtlas:APBA3, GeneCard:APBA3, HGNC:HGNC:580, HumanCyc Gene:HS00304, ModBase:O96018, NCBI Gene:9546, OMIM:604262, RefSeq DNA:NT_011255, RefSeq Protein:NP_004877, RefSeq RNA:NM_004886, UCSC Genome Browser:NM_004886, UniProtKB:O96018 No chr19 3750771 3761673 3750773 3761697 +PA24873 322 HGNC:581 ENSG00000166313 amyloid beta precursor protein binding family B member 1 APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) Fe65, RIR Yes Yes Comparative Toxicogenomics Database:322, Ensembl:ENSG00000166313, GenAtlas:APBB1, GeneCard:APBB1, HGNC:HGNC:581, HumanCyc Gene:HS09374, ModBase:O00213, NCBI Gene:322, OMIM:602709, RefSeq DNA:NT_009237, RefSeq Protein:NP_001155, RefSeq Protein:NP_663722, RefSeq RNA:NM_001164, RefSeq RNA:NM_145689, UCSC Genome Browser:NM_001164, UniProtKB:O00213 No chr11 6416355 6440644 6395124 6419830 +PA134933955 54518 HGNC:17379 ENSG00000077420 amyloid beta precursor protein binding family B member 1 interacting protein APBB1IP """Rap1-GTP-interacting adaptor molecule"", ""amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein""" INAG1, RIAM Yes Yes Comparative Toxicogenomics Database:54518, Ensembl:ENSG00000077420, GeneCard:APBB1IP, HGNC:HGNC:17379, ModBase:Q7Z5R6, NCBI Gene:54518, OMIM:609036, RefSeq DNA:NT_008705, RefSeq Protein:NP_061916, RefSeq RNA:NM_019043, UniProtKB:Q7Z5R6 No chr10 26727253 26856732 26438324 26567879 +PA24874 323 HGNC:582 ENSG00000163697 amyloid beta precursor protein binding family B member 2 APBB2 """Fe65-like"", ""amyloid beta (A4) precursor protein-binding, family B, member 2""" FE65L, FE65L1, MGC35575 Yes No Comparative Toxicogenomics Database:323, Ensembl:ENSG00000163697, GenAtlas:APBB2, GeneCard:APBB2, HGNC:HGNC:582, HumanCyc Gene:HS08916, ModBase:Q92870, NCBI Gene:323, OMIM:104300, OMIM:602710, RefSeq DNA:NG_013337, RefSeq DNA:NT_006238, RefSeq Protein:NP_001159522, RefSeq Protein:NP_001159523, RefSeq Protein:NP_001159524, RefSeq Protein:NP_001159525, RefSeq Protein:NP_001159526, RefSeq Protein:NP_004298, RefSeq Protein:NP_775098, RefSeq RNA:NM_001166050, RefSeq RNA:NM_001166051, RefSeq RNA:NM_001166052, RefSeq RNA:NM_001166053, RefSeq RNA:NM_001166054, RefSeq RNA:NM_004307, RefSeq RNA:NM_173075, UCSC Genome Browser:NM_173075, UniProtKB:B4DJ88, UniProtKB:B4DSL4, UniProtKB:B4E2F2, UniProtKB:Q92870 No chr4 40812044 41218731 40810027 41216714 +PA134958636 10307 HGNC:20708 ENSG00000113108 amyloid beta precursor protein binding family B member 3 APBB3 amyloid beta (A4) precursor protein-binding, family B, member 3 FE65L2 Yes No Comparative Toxicogenomics Database:10307, Ensembl:ENSG00000113108, GeneCard:APBB3, HGNC:HGNC:20708, HumanCyc Gene:HS03649, ModBase:O95704, NCBI Gene:10307, OMIM:602711, RefSeq DNA:NT_029289, RefSeq Protein:NP_006042, RefSeq Protein:NP_573418, RefSeq Protein:NP_573419, RefSeq Protein:NP_573420, RefSeq RNA:NM_006051, RefSeq RNA:NM_133172, RefSeq RNA:NM_133173, RefSeq RNA:NM_133174, UniProtKB:O95704, UniProtKB:Q59EH2, UniProtKB:Q96DX9 No chr5 139937853 139944189 140558268 140564604 +PA24875 324 HGNC:583 ENSG00000134982 APC regulator of WNT signaling pathway APC """APC, WNT signaling pathway regulator"", ""adenomatous polyposis coli"", ""protein phosphatase 1, regulatory subunit 46""" DP2, DP2.5, DP3, PPP1R46 Yes No Comparative Toxicogenomics Database:324, Ensembl:ENSG00000134982, GenAtlas:APC, GeneCard:APC, HGNC:HGNC:583, HumanCyc Gene:HS05935, ModBase:P25054, NCBI Gene:324, OMIM:114500, OMIM:135290, OMIM:137215, OMIM:155255, OMIM:175100, OMIM:276300, OMIM:611731, RefSeq DNA:NG_008481, RefSeq DNA:NT_034772, RefSeq Protein:NP_000029, RefSeq Protein:NP_001120982, RefSeq Protein:NP_001120983, RefSeq RNA:NM_000038, RefSeq RNA:NM_001127510, RefSeq RNA:NM_001127511, UCSC Genome Browser:NM_000038, UniProtKB:P25054, UniProtKB:Q4LE70 No chr5 112043202 112181936 112707505 112846239 +PA134906843 10297 HGNC:24036 ENSG00000115266 APC regulator of WNT signaling pathway 2 APC2 """APC2, WNT signaling pathway regulator"", ""adenomatosis polyposis coli 2"", ""adenomatous polyposis coli like""" APCL Yes No Comparative Toxicogenomics Database:10297, Ensembl:ENSG00000115266, GeneCard:APC2, HGNC:HGNC:24036, HumanCyc Gene:HS03860, ModBase:O95996, NCBI Gene:10297, OMIM:612034, RefSeq DNA:NT_011255, RefSeq Protein:NP_005874, RefSeq RNA:NM_005883, UniProtKB:O95996 No chr19 1446269 1473243 1446268 1473244 +PA24876 147495 HGNC:15718 ENSG00000154856 APC down-regulated 1 APCDD1 adenomatosis polyposis coli down-regulated 1 B7323 Yes Yes Comparative Toxicogenomics Database:147495, Ensembl:ENSG00000154856, GenAtlas:APCDD1, GeneCard:APCDD1, HGNC:HGNC:15718, HumanCyc Gene:HS14540, NCBI Gene:147495, OMIM:607479, RefSeq DNA:NT_010859, RefSeq Protein:NP_694545, RefSeq RNA:NM_153000, UCSC Genome Browser:NM_153000, UniProtKB:Q8J025 No chr18 10454625 10488698 10454628 10488701 +PA145149831 164284 HGNC:26892 ENSG00000198768 APC down-regulated 1 like APCDD1L adenomatosis polyposis coli down-regulated 1-like FLJ90166 Yes No Ensembl:ENSG00000198768, GeneCard:APCDD1L, HGNC:HGNC:26892, ModBase:Q8NCL9, NCBI Gene:164284, RefSeq DNA:NT_011362, RefSeq Protein:NP_699191, RefSeq RNA:NM_153360, UniProtKB:Q8NCL9 No chr20 57033503 57090405 58459101 58514938 +PA24877 325 HGNC:584 ENSG00000132703 amyloid P component, serum APCS 9.5S alpha-1-glycoprotein, pentaxin-related, pentraxin-2, pentraxin-related MGC88159, PTX2, SAP Yes No Comparative Toxicogenomics Database:325, Ensembl:ENSG00000132703, GenAtlas:APCS, GeneCard:APCS, HGNC:HGNC:584, HumanCyc Gene:HS05682, ModBase:P02743, NCBI Gene:325, OMIM:104770, RefSeq DNA:NT_004487, RefSeq Protein:NP_001630, RefSeq RNA:NM_001639, UCSC Genome Browser:NM_001639, UniProtKB:P02743 No chr1 159557616 159558661 159587826 159588871 +PA24878 327 HGNC:586 ENSG00000164062 acylaminoacyl-peptide hydrolase APEH N-acylaminoacyl-peptide hydrolase, acylamino-acid-releasing enzyme, acylaminoacyl-peptidase D3F15S2, D3S48E, DNF15S2 Yes Yes Comparative Toxicogenomics Database:327, Ensembl:ENSG00000164062, GenAtlas:APEH, GeneCard:APEH, HGNC:HGNC:586, HumanCyc Gene:HS08997, ModBase:P13798, NCBI Gene:327, OMIM:102645, RefSeq DNA:NG_011438, RefSeq DNA:NT_022517, RefSeq Protein:NP_001631, RefSeq RNA:NM_001640, UCSC Genome Browser:NM_001640, UniProtKB:P13798 No chr3 49711427 49720936 49673102 49683508 +PA166123664 100506013 HGNC:48925 ENSG00000248329 apelin receptor early endogenous ligand APELA ELABELA, toddler ELA, Ende, tdl Yes No Ensembl:ENSG00000248329, HGNC:HGNC:48925, NCBI Gene:100506013 No +PA201059 328 HGNC:587 ENSG00000100823 apurinic/apyrimidinic endodeoxyribonuclease 1 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 APE, APE-1, APEN, APEX, APX, HAP1, REF-1, REF1 Yes Yes Comparative Toxicogenomics Database:328, Ensembl:ENSG00000100823, GeneCard:APEX1, HGNC:HGNC:587, HumanCyc Gene:HS02149, ModBase:P27695, NCBI Gene:328, OMIM:107748, RefSeq DNA:NG_008718, RefSeq DNA:NT_026437, RefSeq Protein:NP_001632, RefSeq Protein:NP_542379, RefSeq Protein:NP_542380, RefSeq RNA:NM_001641, RefSeq RNA:NM_080648, RefSeq RNA:NM_080649, UCSC Genome Browser:NM_001641, UniProtKB:P27695, UniProtKB:Q5TZP7 No chr14 20923290 20925931 20455131 20457772 +PA38474 27301 HGNC:17889 ENSG00000169188 apurinic/apyrimidinic endodeoxyribonuclease 2 APEX2 """APEX nuclease (apurinic/apyrimidinic endonuclease) 2"", ""zinc finger, GRF-type containing 2""" APE2, APEXL2, XTH2, ZGRF2 Yes No Comparative Toxicogenomics Database:27301, Ensembl:ENSG00000169188, GenAtlas:APEX2, GeneCard:APEX2, HGNC:HGNC:17889, HumanCyc Gene:HS09895, ModBase:Q9UBZ4, NCBI Gene:27301, OMIM:300773, RefSeq DNA:NG_012568, RefSeq DNA:NT_011630, RefSeq Protein:NP_055296, RefSeq RNA:NM_014481, UCSC Genome Browser:NM_014481, UniProtKB:Q9UBZ4 No chrX 55026756 55034306 55000323 55007873 +PA142672599 51107 HGNC:29509 ENSG00000117362 aph-1 homolog A, gamma-secretase subunit APH1A APH1A gamma secretase subunit APH-1A, CGI-78 Yes No Comparative Toxicogenomics Database:51107, Ensembl:ENSG00000117362, GeneCard:APH1A, HGNC:HGNC:29509, HumanCyc Gene:HS12894, ModBase:Q96BI3, NCBI Gene:51107, OMIM:607629, RefSeq DNA:NT_004487, RefSeq Protein:NP_001071096, RefSeq Protein:NP_057106, RefSeq RNA:NM_001077628, RefSeq RNA:NM_016022, UniProtKB:Q5TB22, UniProtKB:Q96BI3 No chr1 150237799 150241609 150265399 150282291 +PA142672600 83464 HGNC:24080 ENSG00000138613 aph-1 homolog B, gamma-secretase subunit APH1B APH1B gamma secretase subunit APH-1B, DKFZp564D0372, PSFL Yes No Comparative Toxicogenomics Database:83464, Ensembl:ENSG00000138613, GeneCard:APH1B, HGNC:HGNC:24080, HumanCyc Gene:HS13732, ModBase:Q8WW43, NCBI Gene:83464, OMIM:607630, RefSeq DNA:NT_010194, RefSeq Protein:NP_001139118, RefSeq Protein:NP_112591, RefSeq RNA:NM_001145646, RefSeq RNA:NM_031301, UniProtKB:Q564N3, UniProtKB:Q8WW43 No chr15 63569749 63601325 63277519 63309126 +PA24881 8539 HGNC:594 ENSG00000166181 apoptosis inhibitor 5 API5 API5-like 1, fibroblast growth factor 2-interacting factor 2, migration-inducing protein MIG8 AAC-11, AAC11, API5L1 Yes No Comparative Toxicogenomics Database:8539, Ensembl:ENSG00000166181, GenAtlas:API5, GeneCard:API5, HGNC:HGNC:594, HumanCyc Gene:HS09350, ModBase:Q9BZZ5, NCBI Gene:8539, OMIM:609774, RefSeq DNA:NT_009237, RefSeq Protein:NP_001136402, RefSeq Protein:NP_001136403, RefSeq Protein:NP_006586, RefSeq RNA:NM_001142930, RefSeq RNA:NM_001142931, RefSeq RNA:NM_006595, RefSeq RNA:NR_024625, UCSC Genome Browser:NM_006595, UniProtKB:B4DGR0, UniProtKB:B4DRJ2, UniProtKB:Q9BZZ5 No chr11 43333505 43366080 43311955 43344530 +PA134954856 642812 HGNC:595 ENSG00000234558 API5 pseudogene 1 API5P1 Yes No Ensembl:ENSG00000234558, GeneCard:API5P1, HGNC:HGNC:595, NCBI Gene:642812, RefSeq DNA:NG_009200, RefSeq DNA:NT_028405 No chrX 115235619 115239750 116104366 116108497 +PA142672601 51074 HGNC:17581 ENSG00000149089 APAF1 interacting protein APIP methylthioribulose-1-phosphate dehydratase APIP2, CGI-29, Mmrp19 Yes No Comparative Toxicogenomics Database:51074, Ensembl:ENSG00000149089, GeneCard:APIP, HGNC:HGNC:17581, HumanCyc Gene:HS14265, ModBase:Q96GX9, NCBI Gene:51074, OMIM:612491, RefSeq DNA:NT_009237, RefSeq Protein:NP_057041, RefSeq RNA:NM_015957, UniProtKB:Q96GX9 No chr11 34903842 34937939 34882295 34916411 +PA164715842 200558 HGNC:28724 ENSG00000169621 aprataxin and PNKP like factor APLF """XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1""" C2orf13, MGC47799, Xip1, ZCCHH1 Yes Yes Ensembl:ENSG00000169621, GeneCard:APLF, HGNC:HGNC:28724, ModBase:Q8IW19, NCBI Gene:200558, OMIM:611035, RefSeq DNA:NT_022184, RefSeq Protein:NP_775816, RefSeq RNA:NM_173545, UniProtKB:Q8IW19 No chr2 68694691 68839361 68467559 68580162 +PA134984493 8862 HGNC:16665 ENSG00000171388 apelin APLN XNPEP2, apelin Yes No Comparative Toxicogenomics Database:8862, Ensembl:ENSG00000171388, GeneCard:APLN, HGNC:HGNC:16665, ModBase:Q9ULZ1, NCBI Gene:8862, OMIM:300297, RefSeq DNA:NG_016718, RefSeq DNA:NT_011786, RefSeq Protein:NP_059109, RefSeq RNA:NM_017413, UniProtKB:Q9ULZ1 No chrX 128779236 128788933 129645259 129654956 +PA162376687 187 HGNC:339 ENSG00000134817 apelin receptor APLNR APJ (apelin) receptor AGTRL1, APJ, APJR, FLJ90771 Yes No Ensembl:ENSG00000134817, GeneCard:APLNR, HGNC:HGNC:339, HumanCyc Gene:HS05916, IUPHAR Receptor:36, ModBase:P35414, NCBI Gene:187, OMIM:600052, RefSeq DNA:NT_167190, RefSeq Protein:NP_005152, RefSeq RNA:NM_005161, RefSeq RNA:NR_027991, UniProtKB:B2RDH3, UniProtKB:B3KQN4, UniProtKB:P35414 No chr11 57001051 57004927 57233577 57237453 +PA24884 333 HGNC:597 ENSG00000105290 amyloid beta precursor like protein 1 APLP1 amyloid beta (A4) precursor-like protein 1, amyloid precursor-like protein 1, amyloid-like protein 1 APLP Yes No Comparative Toxicogenomics Database:333, Ensembl:ENSG00000105290, GenAtlas:APLP1, GeneCard:APLP1, HGNC:HGNC:597, HumanCyc Gene:HS02709, ModBase:P51693, NCBI Gene:333, OMIM:104775, RefSeq DNA:NT_011109, RefSeq Protein:NP_001019978, RefSeq Protein:NP_005157, RefSeq RNA:NM_001024807, RefSeq RNA:NM_005166, UCSC Genome Browser:NM_005166, UniProtKB:P51693 No chr19 36358806 36370699 35868445 35879797 +PA24885 334 HGNC:598 ENSG00000084234 amyloid beta precursor like protein 2 APLP2 amyloid beta (A4) precursor-like protein 2 APPH, APPL2 Yes No Comparative Toxicogenomics Database:334, Ensembl:ENSG00000084234, GenAtlas:APLP2, GeneCard:APLP2, HGNC:HGNC:598, HumanCyc Gene:HS01469, ModBase:Q06481, NCBI Gene:334, OMIM:104776, RefSeq DNA:NT_033899, RefSeq Protein:NP_001135748, RefSeq Protein:NP_001135749, RefSeq Protein:NP_001135750, RefSeq Protein:NP_001633, RefSeq RNA:NM_001142276, RefSeq RNA:NM_001142277, RefSeq RNA:NM_001142278, RefSeq RNA:NM_001642, RefSeq RNA:NR_024515, RefSeq RNA:NR_024516, UCSC Genome Browser:NM_001642, UniProtKB:B4E3I5, UniProtKB:Q06481 No chr11 129939716 130014706 130069821 130144811 +PA25745 57136 HGNC:13238 ENSG00000101474 adipocyte plasma membrane associated protein APMAP BSCv, C20orf3 Yes No Ensembl:ENSG00000101474, GenAtlas:C20orf3, GeneCard:C20orf3, HGNC:HGNC:13238, HumanCyc Gene:HS02283, ModBase:Q9HDC9, NCBI Gene:57136, RefSeq DNA:NT_011387, RefSeq Protein:NP_065392, RefSeq RNA:NM_020531, UCSC Genome Browser:NM_020531, UniProtKB:Q9HDC9 No chr20 24943566 24973610 24962925 24992974 +PA49 335 HGNC:600 ENSG00000118137 apolipoprotein A1 APOA1 apolipoprotein A-I Yes Yes Comparative Toxicogenomics Database:335, Ensembl:ENSG00000118137, GenAtlas:APOA1, GeneCard:APOA1, HGNC:HGNC:600, HumanCyc Gene:HS04192, ModBase:P02647, NCBI Gene:335, OMIM:105200, OMIM:107680, OMIM:604091, RefSeq DNA:NG_012021, RefSeq DNA:NT_033899, RefSeq Protein:NP_000030, RefSeq RNA:NM_000039, UCSC Genome Browser:NM_000039, UniProtKB:P02647 No chr11 116706467 116708338 116835751 116837950 +PA24886 336 HGNC:601 ENSG00000158874 apolipoprotein A2 APOA2 apolipoprotein A-II Yes No Comparative Toxicogenomics Database:336, Ensembl:ENSG00000158874, GenAtlas:APOA2, GeneCard:APOA2, HGNC:HGNC:601, HumanCyc Gene:HS08342, ModBase:P02652, NCBI Gene:336, OMIM:107670, OMIM:143890, RefSeq DNA:NG_012043, RefSeq DNA:NT_004487, RefSeq Protein:NP_001634, RefSeq RNA:NM_001643, UCSC Genome Browser:NM_001643, UniProtKB:P02652 No chr1 161192083 161193418 161222293 161223628 +PA24887 337 HGNC:602 ENSG00000110244 apolipoprotein A4 APOA4 apolipoprotein A-IV Yes Yes Comparative Toxicogenomics Database:337, Ensembl:ENSG00000110244, GenAtlas:APOA4, GeneCard:APOA4, HGNC:HGNC:602, HumanCyc Gene:HS03297, ModBase:P06727, NCBI Gene:337, OMIM:107690, RefSeq DNA:NG_012044, RefSeq DNA:NT_033899, RefSeq Protein:NP_000473, RefSeq RNA:NM_000482, UCSC Genome Browser:NM_000482 No chr11 116691418 116694011 116820702 116823295 +PA24888 116519 HGNC:17288 ENSG00000110243 apolipoprotein A5 APOA5 apolipoprotein A-V APOA-V, RAP3 Yes Yes Comparative Toxicogenomics Database:116519, Ensembl:ENSG00000110243, GenAtlas:APOA5, GeneCard:APOA5, HGNC:HGNC:17288, HumanCyc Gene:HS03296, ModBase:Q6Q788, NCBI Gene:116519, OMIM:144650, OMIM:145750, OMIM:606368, RefSeq DNA:NG_015894, RefSeq DNA:NT_033899, RefSeq Protein:NP_001160070, RefSeq Protein:NP_443200, RefSeq RNA:NM_001166598, RefSeq RNA:NM_052968, UCSC Genome Browser:NM_052968, UniProtKB:Q6Q788 No chr11 116660086 116663136 116789370 116792420 +PA50 338 HGNC:603 ENSG00000084674 apolipoprotein B APOB apolipoprotein B (including Ag(x) antigen) ApoB-100 Yes Yes Comparative Toxicogenomics Database:338, Ensembl:ENSG00000084674, GenAtlas:APOB, GeneCard:APOB, HGNC:HGNC:603, HumanCyc Gene:HS01475, ModBase:Q13787, NCBI Gene:338, OMIM:107730, OMIM:144010, RefSeq DNA:NG_011793, RefSeq DNA:NT_022184, RefSeq Protein:NP_000375, RefSeq RNA:NM_000384, UCSC Genome Browser:NM_000384, UniProtKB:P04114, UniProtKB:Q59HB3, UniProtKB:Q7Z7Q0 No chr2 21224301 21266945 21001429 21044073 +PA24889 339 HGNC:604 ENSG00000111701 apolipoprotein B mRNA editing enzyme catalytic subunit 1 APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 APOBEC-1, BEDP, CDAR1, HEPR Yes No Comparative Toxicogenomics Database:339, Ensembl:ENSG00000111701, GenAtlas:APOBEC1, GeneCard:APOBEC1, HGNC:HGNC:604, HumanCyc Gene:HS03448, ModBase:P41238, NCBI Gene:339, OMIM:600130, RefSeq DNA:NT_009714, RefSeq Protein:NP_001635, RefSeq RNA:NM_001644, UCSC Genome Browser:NM_001644, UniProtKB:P41238 No chr12 7801996 7823195 7649400 7670599 +PA24890 10930 HGNC:605 ENSG00000124701 apolipoprotein B mRNA editing enzyme catalytic subunit 2 APOBEC2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 ARCD1, ARP1 Yes Yes Ensembl:ENSG00000124701, GenAtlas:APOBEC2, GeneCard:APOBEC2, HGNC:HGNC:605, HumanCyc Gene:HS04818, ModBase:Q9Y235, NCBI Gene:10930, OMIM:604797, RefSeq DNA:NT_007592, RefSeq Protein:NP_006780, RefSeq RNA:NM_006789, UCSC Genome Browser:NM_006789, UniProtKB:Q9Y235 No chr6 41020940 41032630 41053201 41064891 +PA24891 200315 HGNC:17343 ENSG00000128383 apolipoprotein B mRNA editing enzyme catalytic subunit 3A APOBEC3A """apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A"", ""phorbolin I""" ARP3, PHRBN Yes No Ensembl:ENSG00000128383, GenAtlas:APOBEC3A, GeneCard:APOBEC3A, HGNC:HGNC:17343, HumanCyc Gene:HS05186, ModBase:P31941, NCBI Gene:200315, OMIM:607109, RefSeq DNA:NT_011520, RefSeq Protein:NP_001180218, RefSeq Protein:NP_663745, RefSeq RNA:NM_001193289, RefSeq RNA:NM_145699, UCSC Genome Browser:NM_145699, UniProtKB:P31941 No chr22 39348755 39359189 38957522 38963183 +PA166049112 100913187 HGNC:44196 APOBEC3A and APOBEC3B deletion hybrid APOBEC3A_B Yes No HGNC:HGNC:44196, NCBI Gene:100913187 No chr22 68458 78546 73230 78546 +PA24892 9582 HGNC:17352 ENSG00000179750 apolipoprotein B mRNA editing enzyme catalytic subunit 3B APOBEC3B """apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B"", ""phorbolin 3""" FLJ21201, PHRBNL Yes Yes Comparative Toxicogenomics Database:9582, Ensembl:ENSG00000179750, GenAtlas:APOBEC3B, GeneCard:APOBEC3B, HGNC:HGNC:17352, HumanCyc Gene:HS11410, ModBase:Q9UH17, NCBI Gene:9582, OMIM:607110, RefSeq DNA:NT_011520, RefSeq Protein:NP_004891, RefSeq RNA:NM_004900, UCSC Genome Browser:NM_004900, UniProtKB:Q9UH17 No chr22 39378352 39388784 38982399 38992779 +PA24893 27350 HGNC:17353 ENSG00000244509 apolipoprotein B mRNA editing enzyme catalytic subunit 3C APOBEC3C apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C APOBEC1L, ARDC2, ARDC4, ARP5, PBI, bK150C2.3 Yes No Comparative Toxicogenomics Database:27350, Ensembl:ENSG00000244509, GenAtlas:APOBEC3C, GeneCard:APOBEC3C, HGNC:HGNC:17353, ModBase:Q9NRW3, NCBI Gene:27350, OMIM:607750, RefSeq DNA:NT_011520, RefSeq Protein:NP_055323, RefSeq RNA:NM_014508, UCSC Genome Browser:NM_014508, UniProtKB:Q9NRW3 No chr22 39410265 39414843 39014260 39018838 +PA24894 140564 HGNC:17354 ENSG00000243811 apolipoprotein B mRNA editing enzyme catalytic subunit 3D APOBEC3D apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D APOBEC3DE, APOBEC3E, ARP6 Yes No Ensembl:ENSG00000243811, GenAtlas:APOBEC3D, GeneCard:APOBEC3D, HGNC:HGNC:17354, ModBase:Q96AK3, NCBI Gene:140564, OMIM:609900, RefSeq DNA:NT_011520, RefSeq Protein:NP_689639, RefSeq RNA:NM_152426, UCSC Genome Browser:NM_152426, UniProtKB:B2CML4, UniProtKB:Q96AK3 No chr22 39417118 39435686 39021113 39034328 +PA24896 200316 HGNC:17356 ENSG00000128394 apolipoprotein B mRNA editing enzyme catalytic subunit 3F APOBEC3F apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F ARP8, BK150C2.4.MRNA, KA6 Yes No Ensembl:ENSG00000128394, GenAtlas:APOBEC3F, GeneCard:APOBEC3F, HGNC:HGNC:17356, ModBase:Q8IUX4, NCBI Gene:200316, OMIM:608993, RefSeq DNA:NT_011520, RefSeq Protein:NP_001006667, RefSeq Protein:NP_660341, RefSeq RNA:NM_001006666, RefSeq RNA:NM_145298, UCSC Genome Browser:NM_145298, UniProtKB:Q6ICH3, UniProtKB:Q8IUX4 No chr22 39436609 39451977 39020454 39055972 +PA24897 60489 HGNC:17357 ENSG00000239713 apolipoprotein B mRNA editing enzyme catalytic subunit 3G APOBEC3G """DNA dC->dU-editing enzyme APOBEC-3G"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G""" CEM15, FLJ12740, MDS019, bK150C2.7, dJ494G10.1 Yes No Comparative Toxicogenomics Database:60489, Ensembl:ENSG00000239713, GenAtlas:APOBEC3G, GeneCard:APOBEC3G, HGNC:HGNC:17357, ModBase:Q9HC16, NCBI Gene:60489, OMIM:607113, RefSeq DNA:NT_011520, RefSeq Protein:NP_068594, RefSeq RNA:NM_021822, UCSC Genome Browser:NM_021822, UniProtKB:Q9HC16 No chr22 39473010 39483748 39077005 39087743 +PA162376694 164668 HGNC:24100 ENSG00000100298 apolipoprotein B mRNA editing enzyme catalytic subunit 3H APOBEC3H apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H ARP10 Yes No Ensembl:ENSG00000100298, GeneCard:APOBEC3H, HGNC:HGNC:24100, NCBI Gene:164668, OMIM:610976, RefSeq DNA:NT_011520, RefSeq Protein:NP_001159474, RefSeq Protein:NP_001159475, RefSeq Protein:NP_001159476, RefSeq Protein:NP_861438, RefSeq RNA:NM_001166002, RefSeq RNA:NM_001166003, RefSeq RNA:NM_001166004, RefSeq RNA:NM_181773, UniProtKB:B7TQM3, UniProtKB:B7TQM5, UniProtKB:B7TQM9, UniProtKB:Q6NTF7 No chr22 39493229 39500072 39097204 39104067 +PA142672597 403314 HGNC:32152 ENSG00000173627 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 APOBEC4 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) C1orf169, FLJ25691, MGC26594, RP1-127C7.4 Yes No Ensembl:ENSG00000173627, GeneCard:APOBEC4, HGNC:HGNC:32152, ModBase:Q8WW27, NCBI Gene:403314, OMIM:609908, RefSeq DNA:NT_004487, RefSeq Protein:NP_982279, RefSeq RNA:NM_203454, UniProtKB:Q8WW27 No chr1 183615410 183622448 183646275 183653313 +PA166048957 55911 HGNC:24087 ENSG00000184730 apolipoprotein B receptor APOBR apolipoprotein B100 receptor, apolipoprotein B48 receptor APOB100R, APOB48R Yes No Ensembl:ENSG00000184730, HGNC:HGNC:24087, NCBI Gene:55911 No chr16 28505970 28510291 28494649 28498970 +PA51 341 HGNC:607 ENSG00000130208 apolipoprotein C1 APOC1 apolipoprotein C-I APOC1B, Apo-CI, ApoC-I, apo-CIB, apoC-IB Yes Yes Comparative Toxicogenomics Database:341, Ensembl:ENSG00000130208, GenAtlas:APOC1, GeneCard:APOC1, HGNC:HGNC:607, HumanCyc Gene:HS05354, ModBase:P02654, NCBI Gene:341, OMIM:107710, RefSeq DNA:NG_012859, RefSeq DNA:NT_011109, RefSeq Protein:NP_001636, RefSeq RNA:NM_001645, UCSC Genome Browser:NM_001645, UniProtKB:B2R526, UniProtKB:P02654 No chr19 45417577 45422606 44914247 44919349 +PA24899 342 HGNC:608 ENSG00000214855 apolipoprotein C-I pseudogene 1 APOC1P1 Yes No Ensembl:ENSG00000214855, GenAtlas:APOC1P1, GeneCard:APOC1P1, HGNC:HGNC:608, NCBI Gene:342, RefSeq DNA:NG_009854, RefSeq DNA:NT_011109, RefSeq RNA:NR_028412, RefSeq RNA:NR_028413, RefSeq RNA:NR_028414, RefSeq RNA:XR_078862 No chr19 45430060 45434643 44926803 44931386 +PA52 344 HGNC:609 ENSG00000234906 apolipoprotein C2 APOC2 apolipoprotein C-II Yes No Comparative Toxicogenomics Database:344, Ensembl:ENSG00000234906, GenAtlas:APOC2, GeneCard:APOC2, HGNC:HGNC:609, ModBase:P02655, NCBI Gene:344, OMIM:207750, OMIM:608083, RefSeq DNA:NG_008837, RefSeq DNA:NT_011109, RefSeq Protein:NP_000474, RefSeq RNA:NM_000483, UCSC Genome Browser:NM_000483, UniProtKB:P02655 No chr19 45449239 45452822 44945982 44949565 +PA53 345 HGNC:610 ENSG00000110245 apolipoprotein C3 APOC3 apolipoprotein C-III APOCIII, Apo-C3, Apo-CIII, ApoC-3, ApoC-III Yes Yes Comparative Toxicogenomics Database:345, Ensembl:ENSG00000110245, GenAtlas:APOC3, GeneCard:APOC3, HGNC:HGNC:610, HumanCyc Gene:HS03298, ModBase:P02656, NCBI Gene:345, OMIM:107720, RefSeq DNA:NG_008949, RefSeq DNA:NT_033899, RefSeq Protein:NP_000031, RefSeq RNA:NM_000040, UCSC Genome Browser:NM_000040, UniProtKB:A3KPE2, UniProtKB:P02656 No chr11 116700624 116703787 116829908 116833071 +PA54 346 HGNC:611 ENSG00000267467 apolipoprotein C4 APOC4 apolipoprotein C-IV Yes No Comparative Toxicogenomics Database:346, Ensembl:ENSG00000267467, GenAtlas:APOC4, GeneCard:APOC4, HGNC:HGNC:611, NCBI Gene:346, OMIM:600745, RefSeq DNA:NT_011109, RefSeq Protein:NP_001637, RefSeq RNA:NM_001646, UCSC Genome Browser:NM_001646, UniProtKB:P55056 No chr19 45445495 45448753 44942238 44945496 +PA24900 347 HGNC:612 ENSG00000189058 apolipoprotein D APOD Apo-D Yes No Comparative Toxicogenomics Database:347, Ensembl:ENSG00000189058, GenAtlas:APOD, GeneCard:APOD, HGNC:HGNC:612, ModBase:P05090, NCBI Gene:347, OMIM:107740, RefSeq DNA:NT_029928, RefSeq Protein:NP_001638, RefSeq RNA:NM_001647, UCSC Genome Browser:NM_001647, UniProtKB:P05090 No chr3 195295573 195311076 195568702 195584205 +PA55 348 HGNC:613 ENSG00000130203 apolipoprotein E APOE AD2 Yes Yes Comparative Toxicogenomics Database:348, Ensembl:ENSG00000130203, GenAtlas:APOE, GeneCard:APOE, HGNC:HGNC:613, HumanCyc Gene:HS05352, ModBase:P02649, NCBI Gene:348, OMIM:104310, OMIM:107741, OMIM:269600, OMIM:603075, OMIM:611771, RefSeq DNA:NG_007084, RefSeq DNA:NT_011109, RefSeq Protein:NP_000032, RefSeq RNA:NM_000041, UCSC Genome Browser:NM_000041, UniProtKB:P02649 No chr19 45409039 45412650 44905749 44909395 +PA24902 319 HGNC:615 ENSG00000175336 apolipoprotein F APOF Yes No Comparative Toxicogenomics Database:319, Ensembl:ENSG00000175336, GenAtlas:APOF, GeneCard:APOF, HGNC:HGNC:615, HumanCyc Gene:HS10915, NCBI Gene:319, OMIM:107760, RefSeq DNA:NT_029419, RefSeq Protein:NP_001629, RefSeq RNA:NM_001638, UCSC Genome Browser:NM_001638, UniProtKB:Q13790 No chr12 56754355 56756583 56360571 56362799 +PA24903 350 HGNC:616 ENSG00000091583 apolipoprotein H APOH apolipoprotein H (beta-2-glycoprotein I), beta-2-glycoprotein I B2G1, BG Yes Yes Comparative Toxicogenomics Database:350, Ensembl:ENSG00000091583, GenAtlas:APOH, GeneCard:APOH, HGNC:HGNC:616, HumanCyc Gene:HS01739, ModBase:P02749, NCBI Gene:350, OMIM:138700, RefSeq DNA:NG_012045, RefSeq DNA:NT_010783, RefSeq Protein:NP_000033, RefSeq RNA:NM_000042, UCSC Genome Browser:NM_000042, UniProtKB:P02749 No chr17 64208147 64225556 66212029 66229438 +PA24904 8542 HGNC:618 ENSG00000100342 apolipoprotein L1 APOL1 apolipoprotein L, 1 APOL Yes No Comparative Toxicogenomics Database:8542, Ensembl:ENSG00000100342, GenAtlas:APOL1, GeneCard:APOL1, HGNC:HGNC:618, HumanCyc Gene:HS02049, ModBase:O14791, NCBI Gene:8542, OMIM:181500, OMIM:603743, RefSeq DNA:NG_023228, RefSeq DNA:NT_011520, RefSeq Protein:NP_001130012, RefSeq Protein:NP_001130013, RefSeq Protein:NP_003652, RefSeq Protein:NP_663318, RefSeq RNA:NM_001136540, RefSeq RNA:NM_001136541, RefSeq RNA:NM_003661, RefSeq RNA:NM_145343, UCSC Genome Browser:NM_003661, UniProtKB:B1AH95, UniProtKB:B4DU12, UniProtKB:O14791, UniProtKB:Q2KHQ6 No chr22 36649117 36663577 36253071 36267531 +PA24905 23780 HGNC:619 ENSG00000128335 apolipoprotein L2 APOL2 """apolipoprotein L, 2"", ""apolipoprotein L-II""" APOL-II Yes No Comparative Toxicogenomics Database:23780, Ensembl:ENSG00000128335, GenAtlas:APOL2, GeneCard:APOL2, HGNC:HGNC:619, HumanCyc Gene:HS05182, ModBase:Q9UH10, NCBI Gene:23780, OMIM:181500, OMIM:607252, RefSeq DNA:NG_023229, RefSeq DNA:NT_011520, RefSeq Protein:NP_112092, RefSeq Protein:NP_663612, RefSeq RNA:NM_030882, RefSeq RNA:NM_145637, UCSC Genome Browser:NM_030882, UniProtKB:Q9BQE5 No chr22 36622255 36636000 36226209 36239954 +PA24906 80833 HGNC:14868 ENSG00000128284 apolipoprotein L3 APOL3 apolipoprotein L, 3 APOLIII, CG12-1 Yes No Comparative Toxicogenomics Database:80833, Ensembl:ENSG00000128284, GenAtlas:APOL3, GeneCard:APOL3, HGNC:HGNC:14868, HumanCyc Gene:HS05174, ModBase:O95236, NCBI Gene:80833, OMIM:607253, RefSeq DNA:NT_011520, RefSeq Protein:NP_055164, RefSeq Protein:NP_085147, RefSeq Protein:NP_663614, RefSeq Protein:NP_663615, RefSeq Protein:NP_663616, RefSeq Protein:NP_663617, RefSeq RNA:NM_014349, RefSeq RNA:NM_030644, RefSeq RNA:NM_145639, RefSeq RNA:NM_145640, RefSeq RNA:NM_145641, RefSeq RNA:NM_145642, RefSeq RNA:NR_027833, RefSeq RNA:NR_027834, RefSeq RNA:NR_027835, UCSC Genome Browser:NM_014349, UniProtKB:O95236 No chr22 36536371 36562225 36140323 36166177 +PA24907 80832 HGNC:14867 ENSG00000100336 apolipoprotein L4 APOL4 apolipoprotein L, 4 APOLIV Yes No Comparative Toxicogenomics Database:80832, Ensembl:ENSG00000100336, GenAtlas:APOL4, GeneCard:APOL4, HGNC:HGNC:14867, HumanCyc Gene:HS02047, ModBase:Q9BPW4, NCBI Gene:80832, OMIM:181500, OMIM:607254, RefSeq DNA:NG_023437, RefSeq DNA:NT_011520, RefSeq Protein:NP_085146, RefSeq Protein:NP_663693, RefSeq RNA:NM_030643, RefSeq RNA:NM_145660, UCSC Genome Browser:NM_030643, UniProtKB:Q9BPW4 No chr22 36585176 36600879 36189128 36204833 +PA24908 80831 HGNC:14869 ENSG00000128313 apolipoprotein L5 APOL5 apolipoprotein L, 5 APOLV Yes No Ensembl:ENSG00000128313, GenAtlas:APOL5, GeneCard:APOL5, HGNC:HGNC:14869, HumanCyc Gene:HS05180, ModBase:Q9BWW9, NCBI Gene:80831, OMIM:607255, RefSeq DNA:NT_011520, RefSeq Protein:NP_085145, RefSeq RNA:NM_030642, UCSC Genome Browser:NM_030642, UniProtKB:Q9BWW9 No chr22 36113919 36125530 35708424 35730279 +PA24909 80830 HGNC:14870 ENSG00000221963 apolipoprotein L6 APOL6 apolipoprotein L, 6 APOL-VI, APOLVI Yes No Ensembl:ENSG00000221963, GenAtlas:APOL6, GeneCard:APOL6, HGNC:HGNC:14870, ModBase:Q9BWW8, NCBI Gene:80830, OMIM:607256, RefSeq DNA:NT_011520, RefSeq Protein:NP_085144, RefSeq RNA:NM_030641, UCSC Genome Browser:NM_030641, UniProtKB:B3KTP4, UniProtKB:Q9BWW8 No chr22 36044424 36064456 35648317 35668409 +PA143485306 81575 HGNC:25268 ENSG00000178878 apolipoprotein L domain containing 1 APOLD1 DKFZP434F0318, FLJ25138 Yes No Ensembl:ENSG00000178878, GeneCard:APOLD1, HGNC:HGNC:25268, HumanCyc Gene:HS17147, NCBI Gene:81575, OMIM:612456, RefSeq DNA:NT_009714, RefSeq Protein:NP_001123887, RefSeq Protein:NP_110444, RefSeq RNA:NM_001130415, RefSeq RNA:NM_030817, UniProtKB:A0AVN6, UniProtKB:Q96LR9 No chr12 12878851 12944400 12725917 12791466 +PA38370 55937 HGNC:13916 ENSG00000204444, ENSG00000206409, ENSG00000224290, ENSG00000226215, ENSG00000227567, ENSG00000231974, ENSG00000235754 apolipoprotein M APOM Apo-M, ApoM, G3a, NG20 Yes No Comparative Toxicogenomics Database:55937, Ensembl:ENSG00000204444, Ensembl:ENSG00000206409, Ensembl:ENSG00000224290, Ensembl:ENSG00000226215, Ensembl:ENSG00000227567, Ensembl:ENSG00000231974, Ensembl:ENSG00000235754, GenAtlas:APOM, GeneCard:APOM, HGNC:HGNC:13916, HumanCyc Gene:HS03489, ModBase:O95445, NCBI Gene:55937, OMIM:606907, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_061974, RefSeq RNA:NM_019101, UCSC Genome Browser:NM_019101, UniProtKB:O95445 No chr6 31620187 31625987 31652410 31658210 +PA162376709 79135 HGNC:28727 ENSG00000184831 apolipoprotein O APOO mitochondrial contact site and cristae organizing system subunit 26 FAM121B, MGC4825, MIC26, MICOS26, Mic23, My025 Yes No Ensembl:ENSG00000184831, GeneCard:APOO, HGNC:HGNC:28727, NCBI Gene:79135, OMIM:300753, RefSeq DNA:NG_013219, RefSeq DNA:NT_167197, RefSeq Protein:NP_077027, RefSeq RNA:NM_024122, RefSeq RNA:NR_026545, UniProtKB:Q9BUR5 No chrX 23851465 23926057 23833348 23907940 +PA162376732 139322 HGNC:24009 ENSG00000155008 apolipoprotein O like APOOL apolipoprotein O-like, mitochondrial contact site and cristae organizing system subunit 27 AAIR8193, CXorf33, FAM121A, MICOS27, Mic27, UNQ8193 Yes No Ensembl:ENSG00000155008, GeneCard:APOOL, HGNC:HGNC:24009, NCBI Gene:139322, RefSeq DNA:NG_021245, RefSeq DNA:NT_011651, RefSeq Protein:NP_940852, RefSeq RNA:NM_198450, UniProtKB:Q6UXV4 No chrX 84258897 84348323 85003852 85093317 +PA24910 351 HGNC:620 ENSG00000142192 amyloid beta precursor protein APP amyloid beta (A4) precursor protein, peptidase nexin-II AD1, alpha-sAPP Yes No Comparative Toxicogenomics Database:351, Ensembl:ENSG00000142192, GenAtlas:APP, GeneCard:APP, HGNC:HGNC:620, ModBase:Q9UCC8, NCBI Gene:351, OMIM:104300, OMIM:104760, OMIM:605714, RefSeq DNA:NG_007376, RefSeq DNA:NT_011512, RefSeq Protein:NP_000475, RefSeq Protein:NP_001129488, RefSeq Protein:NP_001129601, RefSeq Protein:NP_001129602, RefSeq Protein:NP_001129603, RefSeq Protein:NP_001191230, RefSeq Protein:NP_001191231, RefSeq Protein:NP_001191232, RefSeq Protein:NP_958816, RefSeq Protein:NP_958817, RefSeq RNA:NM_000484, RefSeq RNA:NM_001136016, RefSeq RNA:NM_001136129, RefSeq RNA:NM_001136130, RefSeq RNA:NM_001136131, RefSeq RNA:NM_001204301, RefSeq RNA:NM_001204302, RefSeq RNA:NM_001204303, RefSeq RNA:NM_201413, RefSeq RNA:NM_201414, UCSC Genome Browser:NM_000484, UniProtKB:B4DGD0, UniProtKB:P05067 No chr21 27252861 27543446 25880550 26171128 +PA24912 10513 HGNC:622 ENSG00000062725 amyloid beta precursor protein binding protein 2 APPBP2 amyloid beta precursor protein (cytoplasmic tail) binding protein 2, protein interacting with APP tail 1 Hs.84084, KIAA0228, PAT1 Yes No Comparative Toxicogenomics Database:10513, Ensembl:ENSG00000062725, GenAtlas:APPBP2, GeneCard:APPBP2, HGNC:HGNC:622, HumanCyc Gene:HS00771, ModBase:Q92624, NCBI Gene:10513, OMIM:605324, RefSeq DNA:NT_010783, RefSeq Protein:NP_006371, RefSeq RNA:NM_006380, UCSC Genome Browser:NM_006380, UniProtKB:Q92624 No chr17 58520520 58603580 60443149 60526240 +PA162376755 26060 HGNC:24035 ENSG00000157500 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 APPL1 """DCC-interacting protein 13-alpha"", ""adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1""" APPL Yes No Ensembl:ENSG00000157500, GeneCard:APPL1, HGNC:HGNC:24035, HumanCyc Gene:HS08216, ModBase:Q9UKG1, NCBI Gene:26060, OMIM:604299, RefSeq DNA:NT_022517, RefSeq Protein:NP_036228, RefSeq RNA:NM_012096, UniProtKB:Q9UKG1 No chr3 57261765 57307499 57227737 57273471 +PA166352082 55198 HGNC:18242 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 APPL2 DCC-interacting protein 13-beta DIP13B, FLJ10659 Yes No HGNC:HGNC:18242, NCBI Gene:55198 No 0 0 0 0 +PA24914 353 HGNC:626 ENSG00000198931 adenine phosphoribosyltransferase APRT Yes No Comparative Toxicogenomics Database:353, Ensembl:ENSG00000198931, GenAtlas:APRT, GeneCard:APRT, HGNC:HGNC:626, HumanCyc Gene:HS08312, ModBase:P07741, NCBI Gene:353, OMIM:102600, RefSeq DNA:NG_008013, RefSeq DNA:NT_010542, RefSeq Protein:NP_000476, RefSeq Protein:NP_001025189, RefSeq RNA:NM_000485, RefSeq RNA:NM_001030018, UCSC Genome Browser:NM_000485, UniProtKB:P07741 No chr16 88875877 88878342 88809469 88811934 +PA24915 54840 HGNC:15984 ENSG00000137074 aprataxin APTX AOA, AOA1, AXA1, EAOH, EOAHA, FLJ20157 Yes No Comparative Toxicogenomics Database:54840, Ensembl:ENSG00000137074, GenAtlas:APTX, GeneCard:APTX, HGNC:HGNC:15984, HumanCyc Gene:HS13658, ModBase:Q7Z2E3, NCBI Gene:54840, OMIM:208920, OMIM:606350, OMIM:607426, RefSeq DNA:NG_012821, RefSeq DNA:NT_008413, RefSeq Protein:NP_001182177, RefSeq Protein:NP_001182178, RefSeq Protein:NP_001182179, RefSeq Protein:NP_001182180, RefSeq Protein:NP_001182181, RefSeq Protein:NP_001182183, RefSeq Protein:NP_060162, RefSeq Protein:NP_778239, RefSeq Protein:NP_778241, RefSeq Protein:NP_778242, RefSeq Protein:NP_778243, RefSeq RNA:NM_001195248, RefSeq RNA:NM_001195249, RefSeq RNA:NM_001195250, RefSeq RNA:NM_001195251, RefSeq RNA:NM_001195252, RefSeq RNA:NM_001195254, RefSeq RNA:NM_001370669, RefSeq RNA:NM_001370670, RefSeq RNA:NM_001370673, RefSeq RNA:NM_017692, RefSeq RNA:NM_175069, RefSeq RNA:NM_175071, RefSeq RNA:NM_175072, RefSeq RNA:NM_175073, RefSeq RNA:NR_036577, UCSC Genome Browser:NM_017692, UniProtKB:Q5T782, UniProtKB:Q6JV85, UniProtKB:Q7Z2E3 No chr9 32972604 33001639 32883872 33025129 +PA24918 358 HGNC:633 ENSG00000240583 aquaporin 1 (Colton blood group) AQP1 CHIP28, CO Yes Yes Comparative Toxicogenomics Database:358, Ensembl:ENSG00000240583, GenAtlas:AQP1, GeneCard:AQP1, HGNC:HGNC:633, HumanCyc Gene:HS02866, ModBase:P29972, NCBI Gene:358, OMIM:107776, OMIM:110450, RefSeq DNA:NG_007475, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001171989, RefSeq Protein:NP_001171990, RefSeq Protein:NP_001171991, RefSeq Protein:NP_932766, RefSeq RNA:NM_001185060, RefSeq RNA:NM_001185061, RefSeq RNA:NM_001185062, RefSeq RNA:NM_198098, UCSC Genome Browser:NM_000385, UniProtKB:P29972 No chr7 30951415 30965131 30911800 30925516 +PA24919 89872 HGNC:16029 ENSG00000143595 aquaporin 10 AQP10 Yes No Ensembl:ENSG00000143595, GenAtlas:AQP10, GeneCard:AQP10, HGNC:HGNC:16029, HumanCyc Gene:HS07083, ModBase:Q96PS8, NCBI Gene:89872, OMIM:606578, RefSeq DNA:NT_004487, RefSeq Protein:NP_536354, RefSeq RNA:NM_080429, UCSC Genome Browser:NM_080429, UniProtKB:Q96PS8 No chr1 154293592 154297801 154321059 154325325 +PA134949682 282679 HGNC:19940 ENSG00000178301 aquaporin 11 AQP11 AQPX1 Yes No Comparative Toxicogenomics Database:282679, Ensembl:ENSG00000178301, GeneCard:AQP11, HGNC:HGNC:19940, HumanCyc Gene:HS11273, ModBase:Q8NBQ7, NCBI Gene:282679, OMIM:609914, RefSeq DNA:NT_167190, RefSeq Protein:NP_766627, RefSeq RNA:NM_173039, UniProtKB:Q8NBQ7 No chr11 77300680 77321401 77589635 77610356 +PA134977417 375318 HGNC:19941 ENSG00000184945 aquaporin 12A AQP12A AQP12 Yes No Ensembl:ENSG00000184945, GeneCard:AQP12A, HGNC:HGNC:19941, ModBase:Q8IXF9, NCBI Gene:375318, OMIM:609789, RefSeq DNA:NT_005416, RefSeq Protein:NP_945349, RefSeq RNA:NM_198998, UniProtKB:Q8IXF9 No chr2 241631262 241637900 240691845 240698483 +PA29902 653437 HGNC:6096 ENSG00000185176 aquaporin 12B AQP12B INSSA3 Yes No Ensembl:ENSG00000185176, GenAtlas:AQP12B, GeneCard:AQP12B, HGNC:HGNC:6096, ModBase:A6NM10, NCBI Gene:653437, RefSeq DNA:NT_005416, RefSeq Protein:NP_001095937, RefSeq RNA:NM_001102467, UniProtKB:A6NM10, UniProtKB:Q8IUS6 No chr2 241615835 241622317 240676418 240685743 +PA24920 359 HGNC:634 ENSG00000167580 aquaporin 2 AQP2 aquaporin 2 (collecting duct) Yes Yes Comparative Toxicogenomics Database:359, Ensembl:ENSG00000167580, GenAtlas:AQP2, GeneCard:AQP2, HGNC:HGNC:634, HumanCyc Gene:HS09584, ModBase:P41181, NCBI Gene:359, OMIM:107777, OMIM:125800, RefSeq DNA:NG_008913, RefSeq DNA:NT_029419, RefSeq Protein:NP_000477, RefSeq RNA:NM_000486, UCSC Genome Browser:NM_000486, UniProtKB:P41181 No chr12 50344524 50352664 49950741 49958881 +PA24921 360 HGNC:636 ENSG00000165272 aquaporin 3 (Gill blood group) AQP3 Gill blood group GIL Yes No Comparative Toxicogenomics Database:360, Ensembl:ENSG00000165272, GenAtlas:AQP3, GeneCard:AQP3, HGNC:HGNC:636, HumanCyc Gene:HS09210, ModBase:Q92482, NCBI Gene:360, OMIM:600170, OMIM:607457, RefSeq DNA:NG_007476, RefSeq DNA:NT_008413, RefSeq Protein:NP_004916, RefSeq RNA:NM_004925, UCSC Genome Browser:NM_004925, UniProtKB:Q92482 No chr9 33441152 33447631 33441154 33447633 +PA24922 361 HGNC:637 ENSG00000171885 aquaporin 4 AQP4 Mercurial-insensitive water channel AQP-4, MIWC, hAQP4 Yes No Comparative Toxicogenomics Database:361, Ensembl:ENSG00000171885, GenAtlas:AQP4, GeneCard:AQP4, HGNC:HGNC:637, HumanCyc Gene:HS10410, ModBase:P55087, NCBI Gene:361, OMIM:600308, RefSeq DNA:NT_010966, RefSeq Protein:NP_001641, RefSeq Protein:NP_004019, RefSeq RNA:NM_001650, RefSeq RNA:NM_004028, UCSC Genome Browser:NM_001650, UniProtKB:P55087 No chr18 24432007 24445735 26852038 26865844 +PA134942591 147429 HGNC:26399 ENSG00000260372 AQP4 antisense RNA 1 AQP4-AS1 FLJ30507 Yes No Ensembl:ENSG00000260372, GeneCard:C18orf16, HGNC:HGNC:26399, NCBI Gene:147429, RefSeq DNA:NT_010966, RefSeq RNA:NR_026908 No chr18 24444555 24770662 26865308 26935946 +PA24923 362 HGNC:638 ENSG00000161798 aquaporin 5 AQP5 Yes No Comparative Toxicogenomics Database:362, Ensembl:ENSG00000161798, GenAtlas:AQP5, GeneCard:AQP5, HGNC:HGNC:638, HumanCyc Gene:HS08611, ModBase:P55064, NCBI Gene:362, OMIM:600442, RefSeq DNA:NT_029419, RefSeq Protein:NP_001642, RefSeq RNA:NM_001651, UCSC Genome Browser:NM_001651, UniProtKB:P55064 No chr12 50355279 50359465 49961496 49965682 +PA24924 363 HGNC:639 ENSG00000086159 aquaporin 6 AQP6 aquaporin 6, kidney specific AQP2L Yes No Ensembl:ENSG00000086159, GenAtlas:AQP6, GeneCard:AQP6, HGNC:HGNC:639, HumanCyc Gene:HS01522, ModBase:Q13520, NCBI Gene:363, OMIM:601383, RefSeq DNA:NT_029419, RefSeq Protein:NP_001643, RefSeq RNA:NM_001652, UCSC Genome Browser:NM_001652, UniProtKB:Q13520 No chr12 50360874 50370922 49972837 49977139 +PA24925 364 HGNC:640 ENSG00000165269 aquaporin 7 AQP7 AQP7L, AQP9, AQPap Yes No Comparative Toxicogenomics Database:364, Ensembl:ENSG00000165269, GenAtlas:AQP7, GeneCard:AQP7, HGNC:HGNC:640, HumanCyc Gene:HS09209, ModBase:O14520, NCBI Gene:364, OMIM:602974, RefSeq DNA:NT_008413, RefSeq Protein:NP_001161, RefSeq RNA:NM_001170, UCSC Genome Browser:NM_001170, UniProtKB:O14520 No chr9 33384948 33402643 33383135 33402682 +PA166352083 100509620 HGNC:53895 aquaporin 7B AQP7B Yes No HGNC:HGNC:53895, NCBI Gene:100509620 No 0 0 0 0 +PA142672591 375719 HGNC:32048 ENSG00000186466 aquaporin 7 pseudogene 1 AQP7P1 Yes No Ensembl:ENSG00000186466, GeneCard:AQP7P1, HGNC:HGNC:32048, NCBI Gene:375719, RefSeq DNA:NT_079533, RefSeq RNA:NR_002817 No chr9 67270215 67289492 63315243 63334520 +PA142672592 389756 HGNC:32049 ENSG00000181997 aquaporin 7 pseudogene 2 AQP7P2 Yes No Ensembl:ENSG00000181997, GeneCard:AQP7P2, HGNC:HGNC:32049, NCBI Gene:389756, RefSeq DNA:NG_023409, RefSeq DNA:NT_078070, RefSeq RNA:NR_002823 No chr9 69633922 69651282 64621504 64639027 +PA142672593 441432 HGNC:31976 ENSG00000279688 aquaporin 7 pseudogene 3 AQP7P3 AQPap-3 Yes No Ensembl:ENSG00000279688, GeneCard:AQP7P3, HGNC:HGNC:31976, NCBI Gene:441432, RefSeq DNA:NT_078055, RefSeq RNA:NR_026558 No chr9 42858152 42893138 65877574 65912560 +PA142672594 100132938 HGNC:32056 ENSG00000176115 aquaporin 7 pseudogene 4 AQP7P4 Yes No Ensembl:ENSG00000176115, GeneCard:AQP7P4, HGNC:HGNC:32056, NCBI Gene:100132938, RefSeq DNA:NG_021659, RefSeq DNA:NT_167189, RefSeq RNA:XR_038344 No chr9 67038569 67048428 63133597 63143456 +PA24926 343 HGNC:642 ENSG00000103375 aquaporin 8 AQP8 Yes No Comparative Toxicogenomics Database:343, Ensembl:ENSG00000103375, GenAtlas:AQP8, GeneCard:AQP8, HGNC:HGNC:642, HumanCyc Gene:HS02497, ModBase:O94778, NCBI Gene:343, OMIM:603750, RefSeq DNA:NT_010393, RefSeq Protein:NP_001160, RefSeq RNA:NM_001169, UCSC Genome Browser:NM_001169, UniProtKB:O94778 No chr16 25228285 25240253 25216917 25228932 +PA24927 366 HGNC:643 ENSG00000103569 aquaporin 9 AQP9 HsT17287, SSC1 Yes Yes Comparative Toxicogenomics Database:366, Ensembl:ENSG00000103569, GenAtlas:AQP9, GeneCard:AQP9, HGNC:HGNC:643, HumanCyc Gene:HS02522, ModBase:O43315, NCBI Gene:366, OMIM:602914, RefSeq DNA:NG_011975, RefSeq DNA:NT_010194, RefSeq Protein:NP_066190, RefSeq RNA:NM_020980, UCSC Genome Browser:NM_020980, UniProtKB:O43315 No chr15 58430374 58478110 58138169 58185911 +PA134869224 9716 HGNC:29513 ENSG00000021776 aquarius intron-binding spliceosomal factor AQR aquarius homolog (mouse), functional spliceosome-associated protein 164 IBP160, KIAA0560, fSAP164 Yes No Comparative Toxicogenomics Database:9716, Ensembl:ENSG00000021776, GeneCard:AQR, HGNC:HGNC:29513, ModBase:O60306, NCBI Gene:9716, OMIM:610548, RefSeq DNA:NT_010194, RefSeq Protein:NP_055506, RefSeq RNA:NM_014691, UniProtKB:O60306 No chr15 35148552 35261995 34856351 34969794 +PA57 367 HGNC:644 ENSG00000169083 androgen receptor AR Kennedy disease, testicular feminization AIS, DHTR, HUMARA, NR3C4, SBMA, SMAX1 Yes No Comparative Toxicogenomics Database:367, Ensembl:ENSG00000169083, GenAtlas:AR, GeneCard:AR, HGNC:HGNC:644, HumanCyc Gene:HS09879, ModBase:P10275, NCBI Gene:367, OMIM:176807, OMIM:300068, OMIM:300633, OMIM:312300, OMIM:313200, OMIM:313700, RefSeq DNA:NG_009014, RefSeq DNA:NT_011669, RefSeq Protein:NP_000035, RefSeq Protein:NP_001011645, RefSeq RNA:NM_000044, RefSeq RNA:NM_001011645, UCSC Genome Browser:NM_000044, UniProtKB:P10275, UniProtKB:Q9NUA2 No chrX 66763874 66950461 67544032 67730619 +PA24928 369 HGNC:646 ENSG00000078061 A-Raf proto-oncogene, serine/threonine kinase ARAF v-raf murine sarcoma 3611 viral oncogene homolog A-Raf, ARAF1 Yes No Comparative Toxicogenomics Database:369, Ensembl:ENSG00000078061, GenAtlas:ARAF, GeneCard:ARAF, HGNC:HGNC:646, HumanCyc Gene:HS01268, ModBase:P10398, NCBI Gene:369, OMIM:311010, RefSeq DNA:NG_016339, RefSeq DNA:NT_079573, RefSeq Protein:NP_001645, RefSeq RNA:NM_001654, UCSC Genome Browser:NM_001654, UniProtKB:P10398 No chrX 47420499 47431320 47561100 47571921 +PA164715867 116985 HGNC:16925 ENSG00000186635 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ARAP1 CENTD2 Yes Yes Ensembl:ENSG00000186635, GeneCard:ARAP1, HGNC:HGNC:16925, ModBase:Q96P48, NCBI Gene:116985, OMIM:606646, RefSeq DNA:NT_167190, RefSeq Protein:NP_001035207, RefSeq Protein:NP_001128662, RefSeq Protein:NP_056057, RefSeq RNA:NM_001040118, RefSeq RNA:NM_001135190, RefSeq RNA:NM_015242, UniProtKB:B2RTS2, UniProtKB:Q96P48 No chr11 72396114 72463465 72685069 72752389 +PA164715938 116984 HGNC:16924 ENSG00000047365 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 ARAP2 CENTD1, PARX Yes Yes Ensembl:ENSG00000047365, GeneCard:ARAP2, HGNC:HGNC:16924, HumanCyc Gene:HS00588, ModBase:Q8WZ64, NCBI Gene:116984, OMIM:606645, RefSeq DNA:NT_016297, RefSeq Protein:NP_056045, RefSeq RNA:NM_015230, UniProtKB:Q8WZ64 No chr4 36067620 36245979 36005186 36244832 +PA164715983 64411 HGNC:24097 ENSG00000120318 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 ARAP3 CENTD3, DRAG1, FLJ21065 Yes No Ensembl:ENSG00000120318, GeneCard:ARAP3, HGNC:HGNC:24097, HumanCyc Gene:HS04389, ModBase:Q8WWN8, NCBI Gene:64411, OMIM:606647, RefSeq DNA:NT_029289, RefSeq Protein:NP_071926, RefSeq RNA:NM_022481, UniProtKB:Q05CH1, UniProtKB:Q8WWN8, UniProtKB:Q9H7C1 No chr5 141032968 141061800 141653401 141682233 +PA162387241 83989 HGNC:25365 ENSG00000113391 ARB2 cotranscriptional regulator A ARB2A """family with sequence similarity 172 member A"", ""family with sequence similarity 172, member A""" C5orf21, DKFZP564D172, FAM172A, Toupee Yes No Ensembl:ENSG00000113391, GeneCard:FAM172A, HGNC:HGNC:25365, HumanCyc Gene:HS12795, ModBase:Q8WUF8, NCBI Gene:83989, RefSeq DNA:NT_034772, RefSeq Protein:NP_001156889, RefSeq Protein:NP_001156890, RefSeq Protein:NP_114431, RefSeq RNA:NM_001163417, RefSeq RNA:NM_001163418, RefSeq RNA:NM_032042, RefSeq RNA:NR_028080, UniProtKB:B4DJ14, UniProtKB:B4DLG5, UniProtKB:Q8WUF8 No chr5 92953431 93447404 93615130 94111699 +PA24930 23237 HGNC:648 ENSG00000198576 activity regulated cytoskeleton associated protein ARC activity-regulated cytoskeleton-associated protein Arg3.1, KIAA0278 Yes No Comparative Toxicogenomics Database:23237, Ensembl:ENSG00000198576, GenAtlas:ARC, GeneCard:ARC, HGNC:HGNC:648, NCBI Gene:23237, OMIM:612461, RefSeq DNA:NT_008046, RefSeq Protein:NP_056008, RefSeq RNA:NM_015193, UCSC Genome Browser:NM_015193, UniProtKB:Q7LC44 No chr8 143692405 143695833 142611044 142614472 +PA24931 372 HGNC:649 ENSG00000095139 archain 1 ARCN1 COPI coat complex subunit delta COPD Yes No Comparative Toxicogenomics Database:372, Ensembl:ENSG00000095139, GenAtlas:ARCN1, GeneCard:ARCN1, HGNC:HGNC:649, HumanCyc Gene:HS01812, ModBase:P48444, NCBI Gene:372, OMIM:600820, RefSeq DNA:NT_033899, RefSeq Protein:NP_001135753, RefSeq Protein:NP_001646, RefSeq RNA:NM_001142281, RefSeq RNA:NM_001655, UCSC Genome Browser:NM_001655, UniProtKB:B0YIW5, UniProtKB:B4E1X2, UniProtKB:P48444 No chr11 118443078 118473748 118572363 118603033 +PA24933 374 HGNC:651 ENSG00000109321 amphiregulin AREG Colorectum Cell-Derived Growth Factor AR, AREGB, CRDGF, SDGF Yes Yes Comparative Toxicogenomics Database:374, Ensembl:ENSG00000109321, GenAtlas:AREG, GeneCard:AREG, HGNC:HGNC:651, HumanCyc Gene:HS03218, ModBase:P15514, NCBI Gene:374, OMIM:104640, RefSeq DNA:NT_022778, RefSeq Protein:NP_001648, RefSeq RNA:NM_001657, UCSC Genome Browser:NM_001657 No chr4 75310853 75320726 74445098 74455009 +PA134985474 9870 HGNC:20363 ENSG00000119682 apoptosis resistant E3 ubiquitin protein ligase 1 AREL1 fibrosis-inducing E3 ligase 1 FIEL1, KIAA0317 Yes No Ensembl:ENSG00000119682, GeneCard:KIAA0317, HGNC:HGNC:20363, HumanCyc Gene:HS04320, ModBase:O15033, NCBI Gene:9870, RefSeq DNA:NT_026437, RefSeq Protein:NP_001034568, RefSeq RNA:NM_001039479, UniProtKB:O15033 No chr14 75127955 75179807 74661252 74713118 +PA24934 375 HGNC:652 ENSG00000143761 ARF GTPase 1 ARF1 ADP ribosylation factor 1, ADP-ribosylation factor 1 Yes Yes Comparative Toxicogenomics Database:375, Ensembl:ENSG00000143761, GenAtlas:ARF1, GeneCard:ARF1, HGNC:HGNC:652, HumanCyc Gene:HS07100, ModBase:P84077, NCBI Gene:375, OMIM:103180, RefSeq DNA:NT_167186, RefSeq Protein:NP_001019397, RefSeq Protein:NP_001019398, RefSeq Protein:NP_001019399, RefSeq Protein:NP_001649, RefSeq RNA:NM_001024226, RefSeq RNA:NM_001024227, RefSeq RNA:NM_001024228, RefSeq RNA:NM_001658, UCSC Genome Browser:NM_001658, UniProtKB:P84077 No chr1 228270361 228286913 228082660 228099212 +PA142672596 442334 HGNC:22500 ENSG00000219807 ADP-ribosylation factor 1 pseudogene 1 ARF1P1 Yes No Ensembl:ENSG00000219807, GeneCard:ARF1P1, HGNC:HGNC:22500, NCBI Gene:442334, RefSeq DNA:NG_005537, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595 No chr7 94463139 94465616 94833827 94836304 +PA24936 377 HGNC:654 ENSG00000134287 ARF GTPase 3 ARF3 ADP ribosylation factor 3, ADP-ribosylation factor 3, small GTP binding protein Yes No Ensembl:ENSG00000134287, GenAtlas:ARF3, GeneCard:ARF3, HGNC:HGNC:654, HumanCyc Gene:HS05852, ModBase:P61204, NCBI Gene:377, OMIM:103190, RefSeq DNA:NT_029419, RefSeq Protein:NP_001650, RefSeq RNA:NM_001659, UCSC Genome Browser:NM_001659, UniProtKB:P61204 No chr12 49329987 49351309 48928836 48957526 +PA24937 378 HGNC:655 ENSG00000168374 ARF GTPase 4 ARF4 ADP ribosylation factor 4, ADP-ribosylation factor 4 ARF2 Yes No Comparative Toxicogenomics Database:378, Ensembl:ENSG00000168374, GenAtlas:ARF4, GeneCard:ARF4, HGNC:HGNC:655, HumanCyc Gene:HS09739, ModBase:P18085, NCBI Gene:378, OMIM:601177, RefSeq DNA:NT_022517, RefSeq Protein:NP_001651, RefSeq RNA:NM_001660, UCSC Genome Browser:NM_001660, UniProtKB:P18085 No chr3 57557090 57583215 57571363 57597488 +PA24939 380 HGNC:657 ENSG00000271525 ADP-ribosylation factor 4 pseudogene 1 ARF4P1 Yes No Ensembl:ENSG00000271525, GenAtlas:ARF4P, GeneCard:ARF4P1, HGNC:HGNC:657, NCBI Gene:380, RefSeq DNA:NG_001075, RefSeq DNA:NT_035014 No chr9 136943753 136944869 134078631 134079747 +PA24940 170485 HGNC:16599 ENSG00000236527 ADP-ribosylation factor 4 pseudogene 2 ARF4P2 dJ885L7.7 Yes No Ensembl:ENSG00000236527, GenAtlas:ARF4P2, GeneCard:ARF4P2, HGNC:HGNC:16599, NCBI Gene:170485, RefSeq DNA:NG_001031, RefSeq DNA:NT_011333 No chr20 61503331 61504632 62871973 62873328 +PA142672587 390423 HGNC:32380 ENSG00000214051 ADP-ribosylation factor 4 pseudogene 3 ARF4P3 Yes No Ensembl:ENSG00000214051, GeneCard:ARF4P3, HGNC:HGNC:32380, NCBI Gene:390423, RefSeq DNA:NG_008359, RefSeq DNA:NT_009952 No chr13 101407646 101409416 100755392 100757162 +PA24941 381 HGNC:658 ENSG00000004059 ARF GTPase 5 ARF5 ADP ribosylation factor 5, ADP-ribosylation factor 5 Yes No Comparative Toxicogenomics Database:381, Ensembl:ENSG00000004059, GenAtlas:ARF5, GeneCard:ARF5, HGNC:HGNC:658, HumanCyc Gene:HS00099, ModBase:P84085, NCBI Gene:381, OMIM:103188, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001653, RefSeq RNA:NM_001662, UCSC Genome Browser:NM_001662, UniProtKB:A4D0Z3, UniProtKB:P84085 No chr7 127228406 127231759 127588352 127591705 +PA24942 382 HGNC:659 ENSG00000165527 ARF GTPase 6 ARF6 ADP ribosylation factor 6, ADP-ribosylation factor 6 Yes No Comparative Toxicogenomics Database:382, Ensembl:ENSG00000165527, GenAtlas:ARF6, GeneCard:ARF6, HGNC:HGNC:659, HumanCyc Gene:HS09245, ModBase:P62330, NCBI Gene:382, OMIM:600464, RefSeq DNA:NT_026437, RefSeq Protein:NP_001654, RefSeq RNA:NM_001663, UCSC Genome Browser:NM_001663, UniProtKB:P62330, UniProtKB:Q6FGZ2 No chr14 50359736 50363772 49893018 49897054 +PA164741246 55738 HGNC:15852 ENSG00000101199 ARF GTPase activating protein 1 ARFGAP1 ADP ribosylation factor GTPase activating protein 1, ADP-ribosylation factor GTPase activating protein 1 ARF1GAP, FLJ10767, bA261N11.3 Yes No Ensembl:ENSG00000101199, GeneCard:ARFGAP1, HGNC:HGNC:15852, HumanCyc Gene:HS12444, ModBase:Q8N6T3, NCBI Gene:55738, OMIM:608377, RefSeq DNA:NT_011333, RefSeq Protein:NP_060679, RefSeq Protein:NP_783202, RefSeq RNA:NM_018209, RefSeq RNA:NM_175609, UniProtKB:Q8N6T3 No chr20 61904137 61921145 63272785 63289793 +PA162376868 84364 HGNC:13504 ENSG00000149182 ARF GTPase activating protein 2 ARFGAP2 ADP ribosylation factor GTPase activating protein 2, ADP-ribosylation factor GTPase activating protein 2 FLJ14576, IRZ, ZNF289, Zfp289 Yes No Ensembl:ENSG00000149182, GeneCard:ARFGAP2, HGNC:HGNC:13504, HumanCyc Gene:HS07591, ModBase:Q8N6H7, NCBI Gene:84364, OMIM:606908, RefSeq DNA:NT_009237, RefSeq Protein:NP_001229761, RefSeq Protein:NP_115765, RefSeq RNA:NM_001242832, RefSeq RNA:NM_032389, UniProtKB:Q8N6H7 No chr11 47185849 47199054 47164298 47177503 +PA35024 26286 HGNC:661 ENSG00000242247 ARF GTPase activating protein 3 ARFGAP3 ADP ribosylation factor GTPase activating protein 3, ADP-ribosylation factor GTPase activating protein 3 ARFGAP1 Yes No Comparative Toxicogenomics Database:26286, Ensembl:ENSG00000242247, GenAtlas:ARFGAP3, GeneCard:ARFGAP3, HGNC:HGNC:661, ModBase:Q9NP61, NCBI Gene:26286, OMIM:612439, RefSeq DNA:NT_011520, RefSeq Protein:NP_001135765, RefSeq Protein:NP_055385, RefSeq RNA:NM_001142293, RefSeq RNA:NM_014570, UCSC Genome Browser:NM_014570, UniProtKB:Q9NP61 No chr22 43192530 43253408 42796526 42857402 +PA134908197 10565 HGNC:15772 ENSG00000066777 ARF guanine nucleotide exchange factor 1 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1, ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited), Brefeldin A-inhibited guanine nucleotide-exchange protein 1 ARFGEP1, BIG1, DKFZP434L057, p200 Yes No Ensembl:ENSG00000066777, GeneCard:ARFGEF1, HGNC:HGNC:15772, HumanCyc Gene:HS00887, ModBase:Q9Y6D6, NCBI Gene:10565, OMIM:604141, RefSeq DNA:NT_008183, RefSeq Protein:NP_006412, RefSeq RNA:NM_006421, UniProtKB:B3KMS9, UniProtKB:Q9Y6D6 No chr8 68085746 68255912 67174298 67343927 +PA24945 10564 HGNC:15853 ENSG00000124198 ARF guanine nucleotide exchange factor 2 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2, ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited), Brefeldin A-inhibited guanine nucleotide-exchange protein 2 BIG2 Yes No Comparative Toxicogenomics Database:10564, Ensembl:ENSG00000124198, GenAtlas:ARFGEF2, GeneCard:ARFGEF2, HGNC:HGNC:15853, HumanCyc Gene:HS04733, ModBase:Q9Y6D5, NCBI Gene:10564, OMIM:605371, OMIM:608097, RefSeq DNA:NG_011490, RefSeq DNA:NT_011362, RefSeq Protein:NP_006411, RefSeq RNA:NM_006420, UCSC Genome Browser:NM_006420, UniProtKB:Q59FR3, UniProtKB:Q86TH5, UniProtKB:Q9Y6D5 No chr20 47538250 47653230 48921721 49036693 +PA134888863 57221 HGNC:21213 ENSG00000112379 ARFGEF family member 3 ARFGEF3 """Brefeldin A-inhibited guanine nucleotide-exchange protein 3"", ""protein phosphatase 1, regulatory subunit 33""" BIG3, C6orf92, KIAA1244, PPP1R33, dJ171N11.1 Yes Yes Ensembl:ENSG00000112379, GeneCard:KIAA1244, HGNC:HGNC:21213, ModBase:Q5TH69, NCBI Gene:57221, RefSeq DNA:NT_025741, RefSeq Protein:NP_065073, RefSeq RNA:NM_020340, UniProtKB:C5NM88, UniProtKB:Q5TH69 No chr6 138483053 138665800 138161690 138344663 +PA134920621 27236 HGNC:21496 ENSG00000164144 ARF interacting protein 1 ARFIP1 ADP ribosylation factor interacting protein 1, ADP-ribosylation factor interacting protein 1, arfaptin 1 HSU52521 Yes No Comparative Toxicogenomics Database:27236, Ensembl:ENSG00000164144, GeneCard:ARFIP1, HGNC:HGNC:21496, HumanCyc Gene:HS09027, ModBase:P53367, NCBI Gene:27236, OMIM:605928, RefSeq DNA:NT_016354, RefSeq Protein:NP_001020764, RefSeq Protein:NP_001020766, RefSeq Protein:NP_055262, RefSeq RNA:NM_001025593, RefSeq RNA:NM_001025595, RefSeq RNA:NM_014447, UniProtKB:B4E273, UniProtKB:P53367, UniProtKB:Q2M2X4 No chr4 153701091 153833064 152779937 152911912 +PA134879398 23647 HGNC:17160 ENSG00000132254 ARF interacting protein 2 ARFIP2 ADP ribosylation factor interacting protein 2, ADP-ribosylation factor interacting protein 2, arfaptin 2 POR1 Yes No Comparative Toxicogenomics Database:23647, Ensembl:ENSG00000132254, GeneCard:ARFIP2, HGNC:HGNC:17160, HumanCyc Gene:HS05609, ModBase:P53365, NCBI Gene:23647, OMIM:601638, RefSeq DNA:NT_009237, RefSeq Protein:NP_001229783, RefSeq Protein:NP_001229784, RefSeq Protein:NP_001229785, RefSeq Protein:NP_036534, RefSeq RNA:NM_001242854, RefSeq RNA:NM_001242855, RefSeq RNA:NM_001242856, RefSeq RNA:NM_012402, UniProtKB:P53365 No chr11 6495913 6502709 6474683 6481479 +PA24946 10139 HGNC:662 ENSG00000101246 ARF related protein 1 ARFRP1 ADP ribosylation factor related protein 1, ADP-ribosylation factor related protein 1 ARL18, ARP, Arp1 Yes No Comparative Toxicogenomics Database:10139, Ensembl:ENSG00000101246, GenAtlas:ARFRP1, GeneCard:ARFRP1, HGNC:HGNC:662, HumanCyc Gene:HS02225, ModBase:Q13795, NCBI Gene:10139, OMIM:604699, RefSeq DNA:NT_011333, RefSeq Protein:NP_001128230, RefSeq Protein:NP_003215, RefSeq RNA:NM_001134758, RefSeq RNA:NM_003224, UCSC Genome Browser:NM_003224, UniProtKB:B3KTR4, UniProtKB:B7ZKX7, UniProtKB:Q13795 No chr20 62329995 62339365 63698642 63708013 +PA24947 383 HGNC:663 ENSG00000118520 arginase 1 ARG1 arginase-1 Yes Yes Comparative Toxicogenomics Database:383, Ensembl:ENSG00000118520, GenAtlas:ARG1, GeneCard:ARG1, HGNC:HGNC:663, HumanCyc Gene:HS04231, ModBase:P05089, NCBI Gene:383, OMIM:207800, OMIM:608313, RefSeq DNA:NG_007086, RefSeq DNA:NT_025741, RefSeq Protein:NP_000036, RefSeq RNA:NM_000045, UCSC Genome Browser:NM_000045, UniProtKB:P05089 No chr6 131894344 131905472 131573159 131584332 +PA24948 384 HGNC:664 ENSG00000081181 arginase 2 ARG2 Yes Yes Comparative Toxicogenomics Database:384, Ensembl:ENSG00000081181, GenAtlas:ARG2, GeneCard:ARG2, HGNC:HGNC:664, HumanCyc Gene:HS01388, ModBase:P78540, NCBI Gene:384, OMIM:107830, RefSeq DNA:NG_011964, RefSeq DNA:NT_026437, RefSeq Protein:NP_001163, RefSeq RNA:NM_001172, UCSC Genome Browser:NM_001172, UniProtKB:P78540 No chr14 68086579 68118437 67619862 67651720 +PA142672588 503582 HGNC:30146 ENSG00000186103 arginine-fifty homeobox ARGFX Yes No Ensembl:ENSG00000186103, GeneCard:ARGFX, HGNC:HGNC:30146, ModBase:A6NJG6, NCBI Gene:503582, OMIM:611164, RefSeq DNA:NT_005612, RefSeq Protein:NP_001012677, RefSeq RNA:NM_001012659, UniProtKB:A6NJG6 No chr3 121281269 121309469 121567931 121590622 +PA142672589 503583 HGNC:17252 ENSG00000240058 arginine-fifty homeobox pseudogene 1 ARGFXP1 Yes No Ensembl:ENSG00000240058, GeneCard:ARGFXP1, HGNC:HGNC:17252, NCBI Gene:503583, RefSeq DNA:NG_004853, RefSeq DNA:NT_034772 No chr5 122011395 122016233 122675700 122680538 +PA142672590 503640 HGNC:23977 ENSG00000265293 arginine-fifty homeobox pseudogene 2 ARGFXP2 Yes No Ensembl:ENSG00000265293, GeneCard:ARGFXP2, HGNC:HGNC:23977, NCBI Gene:503640, RefSeq DNA:NT_010799, RefSeq RNA:NR_002222 No chr17 30477376 30478590 32150357 32151571 +PA162376869 55082 HGNC:25482 ENSG00000134884 arginine and glutamate rich 1 ARGLU1 FLJ10154 Yes No Ensembl:ENSG00000134884, GeneCard:ARGLU1, HGNC:HGNC:25482, HumanCyc Gene:HS13549, ModBase:Q9NWB6, NCBI Gene:55082, RefSeq DNA:NT_009952, RefSeq Protein:NP_060481, RefSeq RNA:NM_018011, UniProtKB:Q9NWB6 No chr13 107195662 107220514 106543314 106568166 +PA24956 392 HGNC:673 ENSG00000175220 Rho GTPase activating protein 1 ARHGAP1 CDC42GAP, Cdc42GAP, RhoGAP, p50rhoGAP Yes No Comparative Toxicogenomics Database:392, Ensembl:ENSG00000175220, GenAtlas:ARHGAP1, GeneCard:ARHGAP1, HGNC:HGNC:673, HumanCyc Gene:HS10899, ModBase:Q07960, NCBI Gene:392, OMIM:602732, RefSeq DNA:NT_009237, RefSeq Protein:NP_004299, RefSeq RNA:NM_004308, UCSC Genome Browser:NM_004308, UniProtKB:Q07960 No chr11 46698625 46722215 46677075 46700665 +PA134904544 79658 HGNC:26099 ENSG00000071205 Rho GTPase activating protein 10 ARHGAP10 FLJ20896, FLJ41791, GRAF2 Yes No Comparative Toxicogenomics Database:79658, Ensembl:ENSG00000071205, GeneCard:ARHGAP10, HGNC:HGNC:26099, ModBase:A1A4S6, NCBI Gene:79658, OMIM:609746, RefSeq DNA:NT_016354, RefSeq Protein:NP_078881, RefSeq RNA:NM_024605, UniProtKB:A1A4S6 No chr4 148653214 148993927 147732063 148072781 +PA134982615 9824 HGNC:15783 ENSG00000198826 Rho GTPase activating protein 11A ARHGAP11A GAP (1-12) KIAA0013 Yes No Comparative Toxicogenomics Database:9824, Ensembl:ENSG00000198826, GeneCard:ARHGAP11A, HGNC:HGNC:15783, ModBase:Q6P4F7, NCBI Gene:9824, OMIM:610589, RefSeq DNA:NT_010194, RefSeq Protein:NP_055598, RefSeq Protein:NP_955389, RefSeq RNA:NM_014783, RefSeq RNA:NM_199357, UniProtKB:Q6P4F7 No chr15 32906720 32931868 32615144 32639949 +PA134987257 89839 HGNC:15782 ENSG00000285077 Rho GTPase activating protein 11B ARHGAP11B GAP (1-8) B'-T, FAM7B1 Yes No Ensembl:ENSG00000285077, HGNC:HGNC:15782, ModBase:Q3KRB8, NCBI Gene:89839, RefSeq DNA:NT_010194, RefSeq Protein:NP_001034930, RefSeq Protein:XP_001716962, RefSeq RNA:NM_001039841, RefSeq RNA:XM_001716910, UniProtKB:Q3KRB8 No chr15 30918879 30931013 30626676 30638810 +PA24957 94134 HGNC:16348 ENSG00000165322 Rho GTPase activating protein 12 ARHGAP12 FLJ10971, FLJ20737, FLJ21785 Yes Yes Comparative Toxicogenomics Database:94134, Ensembl:ENSG00000165322, GenAtlas:ARHGAP12, GeneCard:ARHGAP12, HGNC:HGNC:16348, HumanCyc Gene:HS15310, ModBase:Q8IWW6, NCBI Gene:94134, OMIM:610577, RefSeq DNA:NT_008705, RefSeq Protein:NP_060757, RefSeq RNA:NM_018287, UCSC Genome Browser:NM_018287, UniProtKB:Q8IWW6 No chr10 32094326 32217804 31805398 31928876 +PA134938065 55843 HGNC:21030 ENSG00000075884 Rho GTPase activating protein 15 ARHGAP15 BM046 Yes No Comparative Toxicogenomics Database:55843, Ensembl:ENSG00000075884, GeneCard:ARHGAP15, HGNC:HGNC:21030, HumanCyc Gene:HS12243, ModBase:Q8IXX1, NCBI Gene:55843, OMIM:610578, RefSeq DNA:NT_022135, RefSeq Protein:NP_060930, RefSeq RNA:NM_018460, UniProtKB:Q53QZ3 No chr2 143886899 144525921 143070973 143768352 +PA134945486 319102 HGNC:19921 ENSG00000258894 Rho GTPase activating protein 16 pseudogene ARHGAP16P Yes No Ensembl:ENSG00000258894, GeneCard:ARHGAP16P, HGNC:HGNC:19921, NCBI Gene:319102, RefSeq DNA:NG_002492, RefSeq DNA:NT_026437 No chr14 44064658 44065438 43595455 43596235 +PA134908575 55114 HGNC:18239 ENSG00000140750 Rho GTPase activating protein 17 ARHGAP17 FLJ10308, FLJ13219, NADRIN, RICH1, WBP15 Yes No Ensembl:ENSG00000140750, GeneCard:ARHGAP17, HGNC:HGNC:18239, HumanCyc Gene:HS06756, ModBase:Q9BVF6, NCBI Gene:55114, OMIM:608293, RefSeq DNA:NT_010393, RefSeq Protein:NP_001006635, RefSeq Protein:NP_060524, RefSeq RNA:NM_001006634, RefSeq RNA:NM_018054, UniProtKB:Q68EM7 No chr16 24930710 25026695 24919384 25015601 +PA134884487 93663 HGNC:21035 ENSG00000146376 Rho GTPase activating protein 18 ARHGAP18 MacGAP, SENEX, bA307O14.2 Yes No Comparative Toxicogenomics Database:93663, Ensembl:ENSG00000146376, GeneCard:ARHGAP18, HGNC:HGNC:21035, HumanCyc Gene:HS14149, ModBase:Q8N392, NCBI Gene:93663, OMIM:613351, RefSeq DNA:NT_025741, RefSeq Protein:NP_277050, RefSeq RNA:NM_033515, UniProtKB:Q8N392 No chr6 129897290 130031370 129576145 129710225 +PA134917415 84986 HGNC:23724 ENSG00000213390 Rho GTPase activating protein 19 ARHGAP19 FLJ00194, MGC14258 Yes No Ensembl:ENSG00000213390, GeneCard:ARHGAP19, HGNC:HGNC:23724, HumanCyc Gene:HS15977, ModBase:Q8NF34, NCBI Gene:84986, OMIM:611587, RefSeq DNA:NT_030059, RefSeq Protein:NP_001191229, RefSeq Protein:NP_116289, RefSeq RNA:NM_001204300, RefSeq RNA:NM_032900, UniProtKB:Q14CB8 No chr10 98981930 99052430 97222173 97292673 +PA134963885 57569 HGNC:18357 ENSG00000137727 Rho GTPase activating protein 20 ARHGAP20 KIAA1391 Yes No Ensembl:ENSG00000137727, GeneCard:ARHGAP20, HGNC:HGNC:18357, ModBase:Q9P2F6, NCBI Gene:57569, OMIM:609568, RefSeq DNA:NT_033899, RefSeq Protein:NP_065860, RefSeq RNA:NM_020809, UniProtKB:Q9P2F6 No chr11 110447759 110583912 110577035 110713189 +PA134973559 57584 HGNC:23725 ENSG00000107863 Rho GTPase activating protein 21 ARHGAP21 ARHGAP10, KIAA1424 Yes No Comparative Toxicogenomics Database:57584, Ensembl:ENSG00000107863, GeneCard:ARHGAP21, HGNC:HGNC:23725, HumanCyc Gene:HS03040, ModBase:Q5T5U3, NCBI Gene:57584, OMIM:609870, RefSeq DNA:NT_008705, RefSeq Protein:NP_065875, RefSeq RNA:NM_020824, UniProtKB:Q5T5U3 No chr10 24872538 25012597 24583609 24725421 +PA134979724 58504 HGNC:30320 ENSG00000128805 Rho GTPase activating protein 22 ARHGAP22 RhoGAP2 Yes No Comparative Toxicogenomics Database:58504, Ensembl:ENSG00000128805, GeneCard:ARHGAP22, HGNC:HGNC:30320, HumanCyc Gene:HS13277, ModBase:Q7Z5H3, NCBI Gene:58504, OMIM:610585, RefSeq DNA:NT_030059, RefSeq Protein:NP_067049, RefSeq RNA:NM_021226, UniProtKB:Q7Z5H3 No chr10 49654068 49864310 48429831 48656265 +PA134891853 57636 HGNC:29293 ENSG00000275832 Rho GTPase activating protein 23 ARHGAP23 KIAA1501 Yes No Ensembl:ENSG00000275832, GeneCard:ARHGAP23, HGNC:HGNC:29293, NCBI Gene:57636, OMIM:610590, RefSeq DNA:NT_010783, RefSeq Protein:NP_001186346, RefSeq Protein:NP_065927, RefSeq RNA:NM_001199417, RefSeq RNA:NM_020876, UniProtKB:C9JVU9 No chr17 36584720 36668628 38419286 38512392 +PA134934054 83478 HGNC:25361 ENSG00000138639 Rho GTPase activating protein 24 ARHGAP24 DKFZP564B1162, FLJ33877, FilGAP Yes No Ensembl:ENSG00000138639, GeneCard:ARHGAP24, HGNC:HGNC:25361, HumanCyc Gene:HS13736, ModBase:Q8N264, NCBI Gene:83478, OMIM:610586, RefSeq DNA:NT_016354, RefSeq Protein:NP_001020787, RefSeq Protein:NP_001036134, RefSeq Protein:NP_112595, RefSeq RNA:NM_001025616, RefSeq RNA:NM_001042669, RefSeq RNA:NM_031305, UniProtKB:Q8N264 No chr4 86068860 86923823 85475131 86002670 +PA134941737 9938 HGNC:28951 ENSG00000163219 Rho GTPase activating protein 25 ARHGAP25 KIAA0053 Yes No Comparative Toxicogenomics Database:9938, Ensembl:ENSG00000163219, GeneCard:ARHGAP25, HGNC:HGNC:28951, HumanCyc Gene:HS15038, ModBase:P42331, NCBI Gene:9938, OMIM:610587, RefSeq DNA:NT_022184, RefSeq Protein:NP_001007232, RefSeq Protein:NP_001159748, RefSeq Protein:NP_001159749, RefSeq Protein:NP_055697, RefSeq RNA:NM_001007231, RefSeq RNA:NM_001166276, RefSeq RNA:NM_001166277, RefSeq RNA:NM_014882, UniProtKB:B7Z498, UniProtKB:P42331 No chr2 68961913 69053965 68710505 68826833 +PA134946198 23092 HGNC:17073 ENSG00000145819 Rho GTPase activating protein 26 ARHGAP26 GTPase regulator associated with the focal adhesion kinase pp125 GRAF, KIAA0621, OPHN1L, OPHN1L1 Yes Yes Comparative Toxicogenomics Database:23092, Ensembl:ENSG00000145819, GeneCard:ARHGAP26, HGNC:HGNC:17073, HumanCyc Gene:HS07288, ModBase:Q9UNA1, NCBI Gene:23092, OMIM:605370, OMIM:607785, RefSeq DNA:NG_016711, RefSeq DNA:NT_029289, RefSeq Protein:NP_001129080, RefSeq Protein:NP_055886, RefSeq RNA:NM_001135608, RefSeq RNA:NM_015071, UniProtKB:Q9UNA1 No chr5 142149881 142608572 142770370 143229007 +PA134873327 201176 HGNC:31813 ENSG00000159314, ENSG00000185602 Rho GTPase activating protein 27 ARHGAP27 CAMGAP1, FLJ43547, SH3D20, SH3P20 Yes No Ensembl:ENSG00000159314, Ensembl:ENSG00000185602, GeneCard:ARHGAP27, HGNC:HGNC:31813, NCBI Gene:201176, OMIM:610591, RefSeq DNA:NT_010783, RefSeq DNA:NT_167251, RefSeq Protein:NP_001152802, RefSeq Protein:NP_777579, RefSeq Protein:NP_954976, RefSeq RNA:NM_001159330, RefSeq RNA:NM_174919, RefSeq RNA:NM_199282, UniProtKB:Q6ZUM4 No chr17 43471268 43510282 45393902 45432916 +PA134915320 79822 HGNC:25509 ENSG00000088756 Rho GTPase activating protein 28 ARHGAP28 FLJ10312, KIAA1314 Yes Yes Comparative Toxicogenomics Database:79822, Ensembl:ENSG00000088756, GeneCard:ARHGAP28, HGNC:HGNC:25509, HumanCyc Gene:HS12311, NCBI Gene:79822, OMIM:610592, RefSeq DNA:NT_010859, RefSeq Protein:NP_001010000, RefSeq Protein:NP_109597, RefSeq RNA:NM_001010000, RefSeq RNA:NM_030672, UniProtKB:A8MQB7, UniProtKB:Q9P2N2 No chr18 6729717 6915715 6729718 6915716 +PA128394548 9411 HGNC:30207 ENSG00000137962 Rho GTPase activating protein 29 ARHGAP29 PARG1 Yes No Comparative Toxicogenomics Database:9411, Ensembl:ENSG00000137962, GeneCard:ARHGAP29, HGNC:HGNC:30207, HumanCyc Gene:HS06427, ModBase:Q52LW3, NCBI Gene:9411, OMIM:610496, RefSeq DNA:NT_032977, RefSeq Protein:NP_004806, RefSeq RNA:NM_004815, UCSC Genome Browser:NM_004815, UniProtKB:Q52LW3 No chr1 94634463 94713251 94168907 94275068 +PA142672585 257106 HGNC:27414 ENSG00000186517 Rho GTPase activating protein 30 ARHGAP30 FLJ00267 Yes No Ensembl:ENSG00000186517, GeneCard:ARHGAP30, HGNC:HGNC:27414, NCBI Gene:257106, RefSeq DNA:NT_004487, RefSeq Protein:NP_001020769, RefSeq Protein:NP_859071, RefSeq RNA:NM_001025598, RefSeq RNA:NM_181720, UniProtKB:Q7Z6I6 No chr1 161016731 161039760 161046942 161069971 +PA165696843 57514 HGNC:29216 ENSG00000031081 Rho GTPase activating protein 31 ARHGAP31 CDGAP Yes No Ensembl:ENSG00000031081, GeneCard:ARHGAP31, HGNC:HGNC:29216, NCBI Gene:57514, OMIM:610911, RefSeq DNA:NG_007665, RefSeq DNA:NT_005612, RefSeq Protein:NP_065805, RefSeq RNA:NM_020754, UniProtKB:Q2M1Z3 No chr3 119013220 119138323 119294289 119419476 +PA165543138 9743 HGNC:17399 ENSG00000134909 Rho GTPase activating protein 32 ARHGAP32 GC-GAP, GRIT, KIAA0712, MGC1892, RICS Yes No Ensembl:ENSG00000134909, GeneCard:ARHGAP32, HGNC:HGNC:17399, HumanCyc Gene:HS13552, NCBI Gene:9743, OMIM:608541, RefSeq DNA:NT_033899, RefSeq Protein:NP_001136157, RefSeq Protein:NP_055530, RefSeq RNA:NM_001142685, RefSeq RNA:NM_014715, UniProtKB:A7KAX9, UniProtKB:Q86T64 No chr11 128834955 129062093 128965060 129279168 +PA165393003 115703 HGNC:23085 ENSG00000004777 Rho GTPase activating protein 33 ARHGAP33 FLJ39019, SNX26, TCGAP Yes No Ensembl:ENSG00000004777, GeneCard:ARHGAP33, HGNC:HGNC:23085, HumanCyc Gene:HS00111, ModBase:O14559, NCBI Gene:115703, RefSeq DNA:NT_011109, RefSeq Protein:NP_001166101, RefSeq Protein:NP_443180, RefSeq RNA:NM_001172630, RefSeq RNA:NM_052948, UniProtKB:A1A5D2, UniProtKB:O14559 No chr19 36266417 36279724 35775515 35788822 +PA28988 2909 HGNC:4591 ENSG00000160007 Rho GTPase activating protein 35 ARHGAP35 GRF-1, GRLF1, KIAA1722, P190A, p190ARhoGAP, p190RhoGAP Yes No Comparative Toxicogenomics Database:2909, Ensembl:ENSG00000160007, GenAtlas:GRLF1, GeneCard:GRLF1, HGNC:HGNC:4591, HumanCyc Gene:HS08438, ModBase:Q9NRY4, NCBI Gene:2909, OMIM:605277, RefSeq DNA:NT_011109, RefSeq Protein:NP_004482, RefSeq RNA:NM_004491, UCSC Genome Browser:NM_004491, UniProtKB:Q9NRY4 No chr19 47421824 47508334 46861002 47005077 +PA165756384 158763 HGNC:26388 ENSG00000147256 Rho GTPase activating protein 36 ARHGAP36 FLJ30058 Yes No Ensembl:ENSG00000147256, GeneCard:ARHGAP36, HGNC:HGNC:26388, HumanCyc Gene:HS14203, NCBI Gene:158763, RefSeq DNA:NT_011786, RefSeq Protein:NP_659404, RefSeq RNA:NM_144967, UniProtKB:Q6ZRI8 No chrX 130192216 130223859 131058242 131089885 +PA165585391 80728 HGNC:29351 ENSG00000147799 Rho GTPase activating protein 39 ARHGAP39 RhoGAP93B homolog (Drosophila), crossGAP homolog (Drosophila) CrGAP, KIAA1688, Vilse Yes No Ensembl:ENSG00000147799, GeneCard:ARHGAP39, HGNC:HGNC:29351, NCBI Gene:80728, RefSeq DNA:NT_037704, RefSeq Protein:NP_079527, RefSeq RNA:NM_025251, UniProtKB:Q9C0H5 No chr8 145754563 145838891 144529179 144700520 +PA24958 393 HGNC:674 ENSG00000089820 Rho GTPase activating protein 4 ARHGAP4 Rho-GAP hematopoietic protein C1 C1, KIAA0131, RhoGAP4, SrGAP4, p115 Yes No Comparative Toxicogenomics Database:393, Ensembl:ENSG00000089820, GenAtlas:ARHGAP4, GeneCard:ARHGAP4, HGNC:HGNC:674, HumanCyc Gene:HS01666, ModBase:P98171, NCBI Gene:393, OMIM:300023, RefSeq DNA:NG_013220, RefSeq DNA:NT_167198, RefSeq Protein:NP_001158213, RefSeq Protein:NP_001657, RefSeq RNA:NM_001164741, RefSeq RNA:NM_001666, UCSC Genome Browser:NM_001666, UniProtKB:P98171, UniProtKB:Q86UY3 No chrX 153172830 153191777 153907376 153926260 +PA25802 343578 HGNC:16226 ENSG00000124143 Rho GTPase activating protein 40 ARHGAP40 C20orf95, dJ1100H13.4 Yes No Ensembl:ENSG00000124143, GenAtlas:C20orf95, GeneCard:ARHGAP40, GeneCard:C20orf95, HGNC:HGNC:16226, NCBI Gene:343578, RefSeq DNA:NT_011362, RefSeq Protein:NP_001157903, RefSeq Protein:XP_001715929, RefSeq Protein:XP_293123, RefSeq Protein:XP_942472, RefSeq RNA:NM_001164431, RefSeq RNA:XM_001715877, RefSeq RNA:XM_293123, RefSeq RNA:XM_937379 No chr20 37230577 37279295 38601934 38650652 +PA165543186 143872 HGNC:26545 ENSG00000165895 Rho GTPase activating protein 42 ARHGAP42 AD031, FLJ32810, GRAF3, TMEM133 Yes No Ensembl:ENSG00000165895, GeneCard:ARHGAP42, HGNC:HGNC:26545, HumanCyc Gene:HS15379, NCBI Gene:143872, RefSeq DNA:NT_033899, RefSeq Protein:NP_689645, RefSeq RNA:NM_152432, UniProtKB:A6NI28 No chr11 100558407 100861656 100687676 100993941 +PA134959258 266698 HGNC:19327 ENSG00000235759 Rho GTPase activating protein 42 pseudogene 3 ARHGAP42P3 Yes No Ensembl:ENSG00000235759, GeneCard:ARHGAP42P3, HGNC:HGNC:19327, NCBI Gene:266698, RefSeq DNA:NG_002375, RefSeq DNA:NT_028395 No chr22 16424125 16444178 15533785 15553838 +PA166048987 9912 HGNC:29096 ENSG00000006740 Rho GTPase activating protein 44 ARHGAP44 KIAA0672, RICH-2, RICH2 Yes No Ensembl:ENSG00000006740, HGNC:HGNC:29096, NCBI Gene:9912 No chr17 12692829 12894960 12789512 12991644 +PA128394633 23526 HGNC:17102 ENSG00000180448 Rho GTPase activating protein 45 ARHGAP45 histocompatibility (minor) HA-1 ARHGAP45, HA-1, HMHA1, KIAA0223 Yes No Comparative Toxicogenomics Database:23526, Ensembl:ENSG00000180448, GeneCard:HMHA1, HGNC:HGNC:17102, ModBase:Q9MY24, NCBI Gene:23526, OMIM:601155, RefSeq DNA:NT_011255, RefSeq Protein:NP_036424, RefSeq RNA:NM_012292, UniProtKB:Q92619 No chr19 1065922 1086627 1065923 1087831 +PA24959 394 HGNC:675 ENSG00000100852 Rho GTPase activating protein 5 ARHGAP5 GFI2, RhoGAP5, p190-B, p190BRhoGAP Yes Yes Comparative Toxicogenomics Database:394, Ensembl:ENSG00000100852, GenAtlas:ARHGAP5, GeneCard:ARHGAP5, HGNC:HGNC:675, HumanCyc Gene:HS02154, ModBase:Q13017, NCBI Gene:394, OMIM:602680, RefSeq DNA:NT_026437, RefSeq Protein:NP_001025226, RefSeq Protein:NP_001164, RefSeq RNA:NM_001030055, RefSeq RNA:NM_001173, UCSC Genome Browser:NM_001173, UniProtKB:Q13017 No chr14 32545664 32628934 32076152 32159728 +PA134905643 84837 HGNC:20279 ENSG00000258655 ARHGAP5 antisense RNA 1 (head to head) ARHGAP5-AS1 MGC15504 Yes No Comparative Toxicogenomics Database:84837, Ensembl:ENSG00000258655, GeneCard:C14orf128, HGNC:HGNC:20279, HumanCyc Gene:HS16593, NCBI Gene:84837, RefSeq DNA:NT_026437, RefSeq RNA:NR_027263 No chr14 32544625 32545905 32075419 32076699 +PA24960 395 HGNC:676 ENSG00000047648 Rho GTPase activating protein 6 ARHGAP6 rhoGAPX-1 Yes No Comparative Toxicogenomics Database:395, Ensembl:ENSG00000047648, GenAtlas:ARHGAP6, GeneCard:ARHGAP6, HGNC:HGNC:676, HumanCyc Gene:HS00594, ModBase:O43182, NCBI Gene:395, OMIM:300118, RefSeq DNA:NG_012494, RefSeq DNA:NT_167197, RefSeq Protein:NP_006116, RefSeq Protein:NP_038267, RefSeq Protein:NP_038286, RefSeq RNA:NM_006125, RefSeq RNA:NM_013423, RefSeq RNA:NM_013427, UCSC Genome Browser:NM_001174, UniProtKB:O43182, UniProtKB:Q59HG6 No chrX 11155663 11683821 11137543 11665701 +PA24961 23779 HGNC:677 ENSG00000241484 Rho GTPase activating protein 8 ARHGAP8 BPGAP1, FLJ20185 Yes No Comparative Toxicogenomics Database:23779, Ensembl:ENSG00000241484, GenAtlas:ARHGAP8, GeneCard:ARHGAP8, HGNC:HGNC:677, HumanCyc Gene:HS01263, ModBase:Q9NSG0, ModBase:Q9NVX8, NCBI Gene:23779, OMIM:609405, RefSeq DNA:NT_011520, RefSeq Protein:NP_001017526, RefSeq Protein:NP_001185655, RefSeq Protein:NP_851852, RefSeq RNA:NM_001017526, RefSeq RNA:NM_001198726, RefSeq RNA:NM_181335, UCSC Genome Browser:NM_015366, UniProtKB:P85298 No chr22 45148438 45258664 44752558 44862784 +PA24962 64333 HGNC:14130 ENSG00000123329 Rho GTPase activating protein 9 ARHGAP9 10C, MGC1295 Yes Yes Ensembl:ENSG00000123329, GenAtlas:ARHGAP9, GeneCard:ARHGAP9, HGNC:HGNC:14130, ModBase:Q9BRR9, NCBI Gene:64333, OMIM:610576, RefSeq DNA:NG_023205, RefSeq DNA:NT_029419, RefSeq Protein:NP_001073625, RefSeq Protein:NP_001073626, RefSeq Protein:NP_115885, RefSeq RNA:NM_001080156, RefSeq RNA:NM_001080157, RefSeq RNA:NM_032496, UCSC Genome Browser:NM_032496, UniProtKB:B4DVI3, UniProtKB:Q8NAF3, UniProtKB:Q9BRR9 No chr12 57866038 57882756 57472255 57488814 +PA24963 396 HGNC:678 ENSG00000141522 Rho GDP dissociation inhibitor alpha ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha GDIA1, RHOGDI Yes No Comparative Toxicogenomics Database:396, Ensembl:ENSG00000141522, GenAtlas:ARHGDIA, GeneCard:ARHGDIA, HGNC:HGNC:678, HumanCyc Gene:HS06841, ModBase:P52565, NCBI Gene:396, OMIM:601925, RefSeq DNA:NT_010663, RefSeq Protein:NP_001172006, RefSeq Protein:NP_001172007, RefSeq Protein:NP_004300, RefSeq RNA:NM_001185077, RefSeq RNA:NM_001185078, RefSeq RNA:NM_004309, UCSC Genome Browser:NM_004309, UniProtKB:B4DUV9, UniProtKB:P52565 No chr17 79825595 79829282 81867719 81871406 +PA24964 397 HGNC:679 ENSG00000111348 Rho GDP dissociation inhibitor beta ARHGDIB Rho GDP dissociation inhibitor (GDI) beta GDIA2, GDID4, Ly-GDI, RAP1GN1, RhoGDI2 Yes No Comparative Toxicogenomics Database:397, Ensembl:ENSG00000111348, GenAtlas:ARHGDIB, GeneCard:ARHGDIB, HGNC:HGNC:679, HumanCyc Gene:HS03409, ModBase:P52566, NCBI Gene:397, OMIM:602843, RefSeq DNA:NT_009714, RefSeq Protein:NP_001166, RefSeq RNA:NM_001175, UCSC Genome Browser:NM_001175, UniProtKB:P52566 No chr12 15094949 15114562 14942015 14961770 +PA24965 398 HGNC:680 ENSG00000242173 Rho GDP dissociation inhibitor gamma ARHGDIG Rho GDP dissociation inhibitor (GDI) gamma, RhoGDI gamma RHOGDI-3 Yes No Ensembl:ENSG00000242173, GenAtlas:ARHGDIG, GeneCard:ARHGDIG, HGNC:HGNC:680, ModBase:Q99819, NCBI Gene:398, OMIM:602844, RefSeq DNA:NT_010393, RefSeq Protein:NP_001167, RefSeq RNA:NM_001176, UCSC Genome Browser:NM_001176, UniProtKB:Q99819 No chr16 330606 333003 280606 283003 +PA24966 9138 HGNC:681 ENSG00000076928 Rho guanine nucleotide exchange factor 1 ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1 LBCL2, P115-RHOGEF, SUB1.5 Yes No Comparative Toxicogenomics Database:9138, Ensembl:ENSG00000076928, GenAtlas:ARHGEF1, GeneCard:ARHGEF1, HGNC:HGNC:681, HumanCyc Gene:HS01222, ModBase:Q92888, NCBI Gene:9138, OMIM:601855, RefSeq DNA:NT_011109, RefSeq Protein:NP_004697, RefSeq Protein:NP_945328, RefSeq Protein:NP_945353, RefSeq RNA:NM_004706, RefSeq RNA:NM_198977, RefSeq RNA:NM_199002, UCSC Genome Browser:NM_004706, UniProtKB:Q92888 No chr19 42387240 42411604 41883200 41907454 +PA24967 9639 HGNC:14103 ENSG00000104728 Rho guanine nucleotide exchange factor 10 ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 Gef10, KIAA0294 Yes Yes Comparative Toxicogenomics Database:9639, Ensembl:ENSG00000104728, GenAtlas:ARHGEF10, GeneCard:ARHGEF10, HGNC:HGNC:14103, HumanCyc Gene:HS02609, ModBase:O15013, NCBI Gene:9639, OMIM:608136, OMIM:608236, RefSeq DNA:NG_008480, RefSeq DNA:NT_023736, RefSeq Protein:NP_055444, RefSeq RNA:NM_014629, UCSC Genome Browser:NM_014629, UniProtKB:A8MS93, UniProtKB:O15013 No chr8 1772149 1906807 1823976 1958641 +PA142672586 55160 HGNC:25540 ENSG00000074964 Rho guanine nucleotide exchange factor 10 like ARHGEF10L GrinchGEF, Rho guanine nucleotide exchange factor (GEF) 10-like FLJ10521, KIAA1626 Yes No Comparative Toxicogenomics Database:55160, Ensembl:ENSG00000074964, GeneCard:ARHGEF10L, HGNC:HGNC:25540, HumanCyc Gene:HS12231, NCBI Gene:55160, OMIM:612494, RefSeq DNA:NT_004610, RefSeq Protein:NP_001011722, RefSeq Protein:NP_060595, RefSeq RNA:NM_001011722, RefSeq RNA:NM_018125, UniProtKB:Q9HCE6 No chr1 17846693 18024370 17520197 17697875 +PA24968 9826 HGNC:14580 ENSG00000132694 Rho guanine nucleotide exchange factor 11 ARHGEF11 Rho guanine nucleotide exchange factor (GEF) 11 GTRAP48, KIAA0380, PDZ-RHOGEF Yes No Ensembl:ENSG00000132694, GenAtlas:ARHGEF11, GeneCard:ARHGEF11, HGNC:HGNC:14580, HumanCyc Gene:HS05679, ModBase:O15085, NCBI Gene:9826, OMIM:605708, RefSeq DNA:NT_004487, RefSeq Protein:NP_055599, RefSeq Protein:NP_937879, RefSeq RNA:NM_014784, RefSeq RNA:NM_198236, UCSC Genome Browser:NM_014784, UniProtKB:O15085, UniProtKB:Q6PFW2 No chr1 156904632 157015512 156934840 157046903 +PA24969 23365 HGNC:14193 ENSG00000196914 Rho guanine nucleotide exchange factor 12 ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 KIAA0382, LARG Yes No Comparative Toxicogenomics Database:23365, Ensembl:ENSG00000196914, GenAtlas:ARHGEF12, GeneCard:ARHGEF12, HGNC:HGNC:14193, ModBase:Q9NZN5, NCBI Gene:23365, OMIM:601626, OMIM:604763, RefSeq DNA:NT_033899, RefSeq Protein:NP_001185594, RefSeq Protein:NP_056128, RefSeq RNA:NM_001198665, RefSeq RNA:NM_015313, UCSC Genome Browser:NM_015313, UniProtKB:Q9NZN5 No chr11 120207264 120360645 120336276 120489936 +PA24970 22899 HGNC:15590 ENSG00000198844 Rho guanine nucleotide exchange factor 15 ARHGEF15 Rho guanine exchange factor (GEF) 15, Rho guanine nucleotide exchange factor (GEF) 15, ephexin5 ARGEF15, FLJ13791, KIAA0915, MGC44868, Vsm-RhoGEF Yes No Ensembl:ENSG00000198844, GenAtlas:ARHGEF15, GeneCard:ARHGEF15, HGNC:HGNC:15590, ModBase:O94989, NCBI Gene:22899, OMIM:608504, RefSeq DNA:NT_010718, RefSeq Protein:NP_079290, RefSeq Protein:NP_776089, RefSeq RNA:NM_025014, RefSeq RNA:NM_173728, UCSC Genome Browser:NM_014958, UCSC Genome Browser:NM_173728, UniProtKB:O94989 No chr17 8213556 8225834 8310238 8322516 +PA24971 27237 HGNC:15515 ENSG00000130762 Rho guanine nucleotide exchange factor 16 ARHGEF16 Rho guanine nucleotide exchange factor (GEF) 16, ephexin4, putative neuroblastoma protein GEF16, NBR Yes No Comparative Toxicogenomics Database:27237, Ensembl:ENSG00000130762, GenAtlas:ARHGEF16, GeneCard:ARHGEF16, HGNC:HGNC:15515, HumanCyc Gene:HS13351, ModBase:Q5VV41, NCBI Gene:27237, RefSeq DNA:NT_004350, RefSeq Protein:NP_055263, RefSeq RNA:NM_014448, UCSC Genome Browser:NM_014448, UniProtKB:B3KTS4, UniProtKB:Q5VV41 No chr1 3371147 3397677 3454583 3481115 +PA134884537 9828 HGNC:21726 ENSG00000110237 Rho guanine nucleotide exchange factor 17 ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17, Rho-specific guanine-nucleotide exchange factor 164 kDa, tumor endothelial marker 4 KIAA0337, TEM4, p164-RhoGEF Yes No Comparative Toxicogenomics Database:9828, Ensembl:ENSG00000110237, GeneCard:ARHGEF17, HGNC:HGNC:21726, HumanCyc Gene:HS12718, ModBase:Q96PE2, NCBI Gene:9828, RefSeq DNA:NT_167190, RefSeq Protein:NP_055601, RefSeq RNA:NM_014786, UniProtKB:Q96PE2 No chr11 73019663 73080425 73305961 73369380 +PA128394630 23370 HGNC:17090 ENSG00000104880 Rho/Rac guanine nucleotide exchange factor 18 ARHGEF18 Rho-specific guanine nucleotide exchange factor p114, Rho/Rac guanine nucleotide exchange factor (GEF) 18 KIAA0521, MGC15913, P114-RhoGEF, p114RhoGEF Yes No Comparative Toxicogenomics Database:23370, Ensembl:ENSG00000104880, GeneCard:ARHGEF18, HGNC:HGNC:17090, HumanCyc Gene:HS12561, NCBI Gene:23370, RefSeq DNA:NT_077812, RefSeq Protein:NP_001124427, RefSeq Protein:NP_056133, RefSeq RNA:NM_001130955, RefSeq RNA:NM_015318, UCSC Genome Browser:NM_015318, UniProtKB:B5ME81, UniProtKB:Q6ZSZ5 No chr19 7420481 7537371 7348901 7476990 +PA134887028 128272 HGNC:26604 ENSG00000142632 Rho guanine nucleotide exchange factor 19 ARHGEF19 Rho guanine nucleotide exchange factor (GEF) 19, ephexin2 FLJ33962, WGEF Yes No Comparative Toxicogenomics Database:128272, Ensembl:ENSG00000142632, GeneCard:ARHGEF19, HGNC:HGNC:26604, HumanCyc Gene:HS13933, ModBase:Q8IW93, NCBI Gene:128272, OMIM:612496, RefSeq DNA:NT_004610, RefSeq Protein:NP_694945, RefSeq RNA:NM_153213, UniProtKB:Q8IW93 No chr1 16524599 16539104 16197856 16212699 +PA24972 9181 HGNC:682 ENSG00000116584 Rho/Rac guanine nucleotide exchange factor 2 ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2 GEF-H1, GEFH1, KIAA0651, LFP40, Lfc, P40 Yes No Comparative Toxicogenomics Database:9181, Ensembl:ENSG00000116584, GenAtlas:ARHGEF2, GeneCard:ARHGEF2, HGNC:HGNC:682, HumanCyc Gene:HS04024, ModBase:Q92974, NCBI Gene:9181, OMIM:607560, RefSeq DNA:NT_004487, RefSeq Protein:NP_001155855, RefSeq Protein:NP_001155856, RefSeq Protein:NP_004714, RefSeq RNA:NM_001162383, RefSeq RNA:NM_001162384, RefSeq RNA:NM_004723, UCSC Genome Browser:NM_004723, UniProtKB:Q92974 No chr1 155916431 155953396 155946839 155991263 +PA166048997 115557 HGNC:30275 ENSG00000240771 Rho guanine nucleotide exchange factor 25 ARHGEF25 RAC/CDC42 exchange factor, Rho guanine nucleotide exchange factor (GEF) 25 GEFT, p63RhoGEF Yes No Ensembl:ENSG00000240771, HGNC:HGNC:30275, NCBI Gene:115557 No chr12 58003963 58011028 57610180 57617245 +PA166048961 26084 HGNC:24490 ENSG00000114790 Rho guanine nucleotide exchange factor 26 ARHGEF26 Rho guanine nucleotide exchange factor (GEF) 26, Src homology 3 domain-containing guanine nucleotide exchange factor DKFZP434D146, SGEF Yes No Ensembl:ENSG00000114790, HGNC:HGNC:24490, NCBI Gene:26084 No chr3 153838792 153975616 154121003 154257827 +PA166048998 64283 HGNC:30322 ENSG00000214944 Rho guanine nucleotide exchange factor 28 ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28 RGNEF, RIP2, p190RhoGEF Yes Yes Ensembl:ENSG00000214944, HGNC:HGNC:30322, NCBI Gene:64283 No chr5 72921983 73237818 73626158 73941993 +PA24973 50650 HGNC:683 ENSG00000163947 Rho guanine nucleotide exchange factor 3 ARHGEF3 """Rho guanine nucleotide exchange factor (GEF) 3"", ""RhoGEF protein"", ""exchange factor found in platelets and leukemic and neuronal tissues, XPLN""" DKFZP434F2429, GEF3, STA3, XPLN Yes No Comparative Toxicogenomics Database:50650, Ensembl:ENSG00000163947, GenAtlas:ARHGEF3, GeneCard:ARHGEF3, HGNC:HGNC:683, HumanCyc Gene:HS08972, ModBase:Q9H7T4, NCBI Gene:50650, OMIM:612115, RefSeq DNA:NT_022517, RefSeq Protein:NP_001122087, RefSeq Protein:NP_001122088, RefSeq Protein:NP_062455, RefSeq RNA:NM_001128615, RefSeq RNA:NM_001128616, RefSeq RNA:NM_019555, UCSC Genome Browser:NM_019555, UniProtKB:Q9NR81 No chr3 56761446 57113336 56727418 57079308 +PA165696270 100271715 HGNC:37252 ENSG00000214694 Rho guanine nucleotide exchange factor 33 ARHGEF33 Rho guanine nucleotide exchange factor (GEF) 33 Yes No Ensembl:ENSG00000214694, GeneCard:ARHGEF33, HGNC:HGNC:37252, NCBI Gene:100271715, RefSeq DNA:NT_022184, RefSeq Protein:NP_001138923, RefSeq RNA:NM_001145451 No chr2 39146504 39202590 38919363 38975449 +PA165617645 445328 HGNC:33846 ENSG00000213214 Rho guanine nucleotide exchange factor 35 ARHGEF35 Rho guanine nucleotide exchange factor (GEF) 35 ARHGEF5L, CTAGE4, FLJ43692 Yes No Ensembl:ENSG00000213214, GeneCard:ARHGEF35, HGNC:HGNC:33846, NCBI Gene:445328, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001003702, RefSeq RNA:NM_001003702, UniProtKB:A5YM69 No chr7 143883176 143892791 144186083 144195698 +PA165660135 389337 HGNC:34430 ENSG00000183111 Rho guanine nucleotide exchange factor 37 ARHGEF37 Rho guanine nucleotide exchange factor (GEF) 37 FLJ41603 Yes No Ensembl:ENSG00000183111, GeneCard:ARHGEF37, HGNC:HGNC:34430, NCBI Gene:389337, RefSeq DNA:NT_029289, RefSeq Protein:NP_001001669, RefSeq RNA:NM_001001669, UniProtKB:A1IGU5 No chr5 148961064 149014531 149552049 149634968 +PA165663186 54848 HGNC:25968 ENSG00000236699 Rho guanine nucleotide exchange factor 38 ARHGEF38 Rho guanine nucleotide exchange factor (GEF) 38 FLJ20184 Yes No Ensembl:ENSG00000236699, GeneCard:ARHGEF38, HGNC:HGNC:25968, HumanCyc Gene:HS13746, NCBI Gene:54848, RefSeq DNA:NT_016354, RefSeq Protein:NP_001229658, RefSeq Protein:NP_060170, RefSeq RNA:NM_001242729, RefSeq RNA:NM_017700, UniProtKB:Q9NXL2 No chr4 106473704 106602070 105552603 105682539 +PA134939297 84904 HGNC:25909 ENSG00000137135 Rho guanine nucleotide exchange factor 39 ARHGEF39 Rho guanine nucleotide exchange factor (GEF) 39 C9orf100, FLJ14642 Yes No Ensembl:ENSG00000137135, GeneCard:C9orf100, HGNC:HGNC:25909, HumanCyc Gene:HS13663, ModBase:Q8N4T4, NCBI Gene:84904, RefSeq DNA:NT_008413, RefSeq Protein:NP_116207, RefSeq RNA:NM_032818, UniProtKB:Q8N4T4 No chr9 35658872 35675863 35658875 35665281 +PA24974 50649 HGNC:684 ENSG00000136002 Rho guanine nucleotide exchange factor 4 ARHGEF4 APC-stimulated guanine nucleotide exchange factor, APC-stimulated guanine nucleotide exchange factor 1, Rho guanine nucleotide exchange factor (GEF) 4 ASEF, ASEF1, KIAA1112, STM6 Yes Yes Ensembl:ENSG00000136002, GenAtlas:ARHGEF4, GeneCard:ARHGEF4, HGNC:HGNC:684, HumanCyc Gene:HS06098, ModBase:Q9NR80, NCBI Gene:50649, OMIM:605216, RefSeq DNA:NT_022135, RefSeq Protein:NP_056135, RefSeq Protein:NP_127462, RefSeq RNA:NM_015320, RefSeq RNA:NM_032995, UCSC Genome Browser:NM_015320, UniProtKB:Q9NR80 No chr2 131594489 131804826 130836916 131047253 +PA166048969 55701 HGNC:25516 ENSG00000165801 Rho guanine nucleotide exchange factor 40 ARHGEF40 Rho guanine nucleotide exchange factor (GEF) 40 FLJ10357, solo Yes No Ensembl:ENSG00000165801, HGNC:HGNC:25516, NCBI Gene:55701 No chr14 21538419 21558407 21061276 21090248 +PA24975 7984 HGNC:13209 ENSG00000050327 Rho guanine nucleotide exchange factor 5 ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5, ephexin3, guanine nucleotide regulatory protein TIM, transforming immortalized mammary oncogene GEF5, P60, TIM, TIM1 Yes No Comparative Toxicogenomics Database:7984, Ensembl:ENSG00000050327, GenAtlas:ARHGEF5, GeneCard:ARHGEF5, HGNC:HGNC:13209, HumanCyc Gene:HS00631, NCBI Gene:7984, OMIM:600888, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_005426, RefSeq RNA:NM_005435, UCSC Genome Browser:NM_005435, UniProtKB:Q12774 No chr7 144052489 144077725 144355341 144380632 +PA24976 9459 HGNC:685 ENSG00000129675 Rac/Cdc42 guanine nucleotide exchange factor 6 ARHGEF6 """PAK-interacting exchange factor, alpha"", ""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6"", ""rho guanine nucleotide exchange factor 6""" Cool-2, Cool2, KIAA0006, MRX46, alpha-PIX, alphaPIX, αPix, αPix Yes No Comparative Toxicogenomics Database:9459, Ensembl:ENSG00000129675, GenAtlas:ARHGEF6, GeneCard:ARHGEF6, HGNC:HGNC:685, HumanCyc Gene:HS05304, ModBase:Q15052, NCBI Gene:9459, OMIM:300267, OMIM:300436, RefSeq DNA:NG_008873, RefSeq DNA:NT_011786, RefSeq Protein:NP_004831, RefSeq RNA:NM_004840, UCSC Genome Browser:NM_004840, UniProtKB:Q15052, UniProtKB:Q8N4Q3 No chrX 135747708 135863503 136665547 136781656 +PA24977 8874 HGNC:15607 ENSG00000102606 Rho guanine nucleotide exchange factor 7 ARHGEF7 PAK-interacting exchange factor beta, Rho guanine nucleotide exchange factor (GEF) 7, SH3 domain-containing proline-rich protein, guanine nucleotide exchange factor 7, rho BETA-PIX, COOL1, DKFZp686C12170, DKFZp761K1021, KIAA0142, Nbla10314, P50, P50BP, P85, P85COOL1, P85SPR, PAK3, PIXB Yes No Comparative Toxicogenomics Database:8874, Ensembl:ENSG00000102606, GenAtlas:ARHGEF7, GeneCard:ARHGEF7, HGNC:HGNC:15607, HumanCyc Gene:HS02401, ModBase:Q8N3M1, NCBI Gene:8874, OMIM:605477, RefSeq DNA:NT_009952, RefSeq Protein:NP_001106983, RefSeq Protein:NP_001106984, RefSeq Protein:NP_001106985, RefSeq Protein:NP_003890, RefSeq Protein:NP_663788, RefSeq RNA:NM_001113511, RefSeq RNA:NM_001113512, RefSeq RNA:NM_001113513, RefSeq RNA:NM_003899, RefSeq RNA:NM_145735, UCSC Genome Browser:NM_003899, UniProtKB:Q14155 No chr13 111767624 111958081 111114619 111305734 +PA24978 23229 HGNC:14561 ENSG00000131089 Cdc42 guanine nucleotide exchange factor 9 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9, collybistin KIAA0424, PEM-2 Yes No Comparative Toxicogenomics Database:23229, Ensembl:ENSG00000131089, GenAtlas:ARHGEF9, GeneCard:ARHGEF9, HGNC:HGNC:14561, HumanCyc Gene:HS13370, ModBase:O43307, NCBI Gene:23229, OMIM:300429, OMIM:300607, RefSeq DNA:NG_016975, RefSeq DNA:NT_011669, RefSeq Protein:NP_001166950, RefSeq Protein:NP_001166951, RefSeq Protein:NP_056000, RefSeq RNA:NM_001173479, RefSeq RNA:NM_001173480, RefSeq RNA:NM_015185, UCSC Genome Browser:NM_015185, UniProtKB:B4DHC7, UniProtKB:O43307 No chrX 62854847 63005426 63634967 63786025 +PA35960 8289 HGNC:11110 ENSG00000117713 AT-rich interaction domain 1A ARID1A AT rich interactive domain 1A (SWI-like) B120, BAF250, BAF250a, C10rf4, C1orf4, P270, SMARCF1 Yes No Ensembl:ENSG00000117713, GenAtlas:ARID1A, GeneCard:ARID1A, HGNC:HGNC:11110, HumanCyc Gene:HS04169, ModBase:Q9HBJ5, NCBI Gene:8289, OMIM:603024, RefSeq DNA:NT_004610, RefSeq Protein:NP_006006, RefSeq Protein:NP_624361, RefSeq RNA:NM_006015, RefSeq RNA:NM_139135, UCSC Genome Browser:NM_006015, UniProtKB:O14497 No chr1 27022522 27108601 26696031 26782110 +PA134909463 57492 HGNC:18040 ENSG00000049618 AT-rich interaction domain 1B ARID1B AT rich interactive domain 1B (SWI1-like) 6A3-5, BAF250b, DAN15, ELD/OSA1, KIAA1235, SMARCF2, p250R Yes No Ensembl:ENSG00000049618, GeneCard:ARID1B, HGNC:HGNC:18040, HumanCyc Gene:HS00625, ModBase:Q8NFD5, NCBI Gene:57492, RefSeq DNA:NT_025741, RefSeq Protein:NP_001361749, RefSeq Protein:NP_059989, RefSeq Protein:NP_787059, RefSeq RNA:NM_001374820, RefSeq RNA:NM_017519, RefSeq RNA:NM_175863, UniProtKB:Q8NFD5 No chr6 157098980 157531913 156777847 157210779 +PA134916396 196528 HGNC:18037 ENSG00000189079 AT-rich interaction domain 2 ARID2 AT rich interactive domain 2 (ARID, RFX-like) BAF200, DKFZp686G052, FLJ30619, KIAA1557, SMARCF3, ZIPZAP, p200 Yes No Ensembl:ENSG00000189079, GeneCard:ARID2, HGNC:HGNC:18037, ModBase:Q9HCL5, NCBI Gene:196528, OMIM:609539, RefSeq DNA:NT_029419, RefSeq Protein:NP_689854, RefSeq RNA:NM_152641, UniProtKB:Q68CP9 No chr12 46123494 46301820 45729683 45908037 +PA27485 1820 HGNC:3031 ENSG00000116017 AT-rich interaction domain 3A ARID3A AT rich interactive domain 3A (BRIGHT-like) BRIGHT, DRIL1 Yes No Comparative Toxicogenomics Database:1820, Ensembl:ENSG00000116017, GenAtlas:ARID3A, GeneCard:ARID3A, HGNC:HGNC:3031, HumanCyc Gene:HS03970, ModBase:Q99856, NCBI Gene:1820, OMIM:603265, RefSeq DNA:NT_011255, RefSeq Protein:NP_005215, RefSeq RNA:NM_005224, UCSC Genome Browser:NM_005224, UniProtKB:Q99856 No chr19 925733 972816 925733 975934 +PA134896829 10620 HGNC:14350 ENSG00000179361 AT-rich interaction domain 3B ARID3B AT rich interactive domain 3B (BRIGHT-like), Bright-derived protein BDP, DRIL2 Yes No Comparative Toxicogenomics Database:10620, Ensembl:ENSG00000179361, GeneCard:ARID3B, HGNC:HGNC:14350, HumanCyc Gene:HS11375, NCBI Gene:10620, OMIM:612457, RefSeq DNA:NT_010194, RefSeq Protein:NP_006456, RefSeq RNA:NM_006465, UniProtKB:Q8IVW6 No chr15 74833518 74890472 74541177 74598131 +PA134928507 138715 HGNC:21209 ENSG00000205143 AT-rich interaction domain 3C ARID3C AT rich interactive domain 3C (BRIGHT-like), Brightlike Yes No Ensembl:ENSG00000205143, GeneCard:ARID3C, HGNC:HGNC:21209, ModBase:A6NKF2, NCBI Gene:138715, RefSeq DNA:NT_008413, RefSeq Protein:NP_001017363, RefSeq RNA:NM_001017363, UniProtKB:A6NKF2 No chr9 34621455 34628011 34621360 34633112 +PA34249 5926 HGNC:9885 ENSG00000032219 AT-rich interaction domain 4A ARID4A AT rich interactive domain 4A (RBP1-like) RBBP1, RBP-1, RBP1 Yes Yes Comparative Toxicogenomics Database:5926, Ensembl:ENSG00000032219, GenAtlas:ARID4A, GeneCard:ARID4A, HGNC:HGNC:9885, HumanCyc Gene:HS00483, ModBase:P29374, NCBI Gene:5926, OMIM:180201, RefSeq DNA:NT_026437, RefSeq Protein:NP_002883, RefSeq Protein:NP_075376, RefSeq Protein:NP_075377, RefSeq RNA:NM_002892, RefSeq RNA:NM_023000, RefSeq RNA:NM_023001, UCSC Genome Browser:NM_002892, UniProtKB:A8MYU0, UniProtKB:P29374, UniProtKB:Q05CG0 No chr14 58765103 58840713 58298385 58373733 +PA134940494 51742 HGNC:15550 ENSG00000054267 AT-rich interaction domain 4B ARID4B AT rich interactive domain 4B (RBP1-like) BCAA, BRCAA1, RBP1L1, SAP180 Yes No Ensembl:ENSG00000054267, GeneCard:ARID4B, HGNC:HGNC:15550, HumanCyc Gene:HS00667, ModBase:Q9P2W4, NCBI Gene:51742, OMIM:609696, RefSeq DNA:NT_167186, RefSeq Protein:NP_001193723, RefSeq Protein:NP_057458, RefSeq Protein:NP_112739, RefSeq RNA:NM_001206794, RefSeq RNA:NM_016374, RefSeq RNA:NM_031371, UniProtKB:Q4LE39 No chr1 235330210 235491532 235166895 235328240 +PA134937822 10865 HGNC:17361 ENSG00000196843 AT-rich interaction domain 5A ARID5A AT rich interactive domain 5A (MRF1-like), modulator recognition factor 1 MRF-1, RP11-363D14 Yes No Comparative Toxicogenomics Database:10865, Ensembl:ENSG00000196843, GeneCard:ARID5A, HGNC:HGNC:17361, ModBase:Q03989, NCBI Gene:10865, OMIM:611583, RefSeq DNA:NT_022171, RefSeq Protein:NP_997646, RefSeq RNA:NM_212481, UniProtKB:Q03989 No chr2 97202464 97218375 96536719 96552638 +PA134943193 84159 HGNC:17362 ENSG00000150347 AT-rich interaction domain 5B ARID5B AT rich interactive domain 5B (MRF1-like) FLJ21150, MRF2 Yes Yes Comparative Toxicogenomics Database:84159, Ensembl:ENSG00000150347, GeneCard:ARID5B, HGNC:HGNC:17362, ModBase:Q14865, NCBI Gene:84159, OMIM:608538, RefSeq DNA:NT_030059, RefSeq Protein:NP_115575, RefSeq RNA:NM_032199, UniProtKB:Q14865 No chr10 63661013 63856707 61901254 62096948 +PA24982 25820 HGNC:689 ENSG00000166233 ariadne RBR E3 ubiquitin protein ligase 1 ARIH1 """ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"", ""ariadne, Drosophila, homolog of""" ARI, HARI, HHARI, UBCH7BP Yes No Comparative Toxicogenomics Database:25820, Ensembl:ENSG00000166233, GenAtlas:ARIH1, GeneCard:ARIH1, HGNC:HGNC:689, HumanCyc Gene:HS09361, ModBase:Q9Y4X5, NCBI Gene:25820, OMIM:605624, RefSeq DNA:NT_010194, RefSeq Protein:NP_005735, RefSeq RNA:NM_005744, UCSC Genome Browser:NM_005744, UniProtKB:Q9Y4X5 No chr15 72766667 72878904 72474282 72586563 +PA24983 10425 HGNC:690 ENSG00000177479 ariadne RBR E3 ubiquitin protein ligase 2 ARIH2 all-trans retinoic acid inducible RING finger, ariadne homolog 2 (Drosophila) TRIAD1 Yes No Comparative Toxicogenomics Database:10425, Ensembl:ENSG00000177479, GenAtlas:ARIH2, GeneCard:ARIH2, HGNC:HGNC:690, HumanCyc Gene:HS11174, ModBase:O95376, NCBI Gene:10425, OMIM:605615, RefSeq DNA:NT_022517, RefSeq Protein:NP_006312, RefSeq RNA:NM_006321, UCSC Genome Browser:NM_006321, UniProtKB:O95376, UniProtKB:Q6IBL8 No chr3 48956265 49022974 48918820 48985541 +PA162379716 646450 HGNC:34425 ENSG00000221883 ariadne RBR E3 ubiquitin protein ligase 2 opposite strand ARIH2OS ariadne homolog 2 opposite strand C3orf71 Yes No Ensembl:ENSG00000221883, GeneCard:C3orf71, HGNC:HGNC:34425, ModBase:Q8N7S6, NCBI Gene:646450, RefSeq DNA:NT_022517, RefSeq Protein:NP_001116512, RefSeq RNA:NM_001123040, UniProtKB:Q8N7S6 No chr3 48955221 48956818 48917788 48919385 +PA134972127 494470 HGNC:31696 ENSG00000141622 arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C ARK2C lncRNA activated in metastatic PCa, ring finger protein 165 ARKL2, Ark2C, RNF111L2, RNF165, lncAMPC Yes No Ensembl:ENSG00000141622, GeneCard:RNF165, HGNC:HGNC:31696, ModBase:Q6ZSG1, NCBI Gene:494470, RefSeq DNA:NT_010966, RefSeq Protein:NP_689683, RefSeq RNA:NM_152470, UniProtKB:B3KVD1, UniProtKB:Q6ZSG1 No chr18 43906772 44041159 46334217 46461413 +PA134919240 147339 HGNC:28172 ENSG00000152242 arkadia (RNF111) N-terminal like PKA signaling regulator 2N ARK2N ARKadia-like 1, chromosome 18 open reading frame 25 ARKL1, Ark2N, C18orf25, MGC12909, RNF111L1 Yes No Ensembl:ENSG00000152242, GeneCard:C18orf25, HGNC:HGNC:28172, HumanCyc Gene:HS14420, NCBI Gene:147339, RefSeq DNA:NT_010966, RefSeq Protein:NP_001008240, RefSeq Protein:NP_659492, RefSeq RNA:NM_001008239, RefSeq RNA:NM_145055, UniProtKB:Q96B23 No chr18 43753519 43846955 46173553 46266992 +PA24985 400 HGNC:692 ENSG00000120805 ARF like GTPase 1 ARL1 ADP ribosylation factor like GTPase 1, ADP-ribosylation factor-like 1 ARFL1 Yes No Comparative Toxicogenomics Database:400, Ensembl:ENSG00000120805, GenAtlas:ARL1, GeneCard:ARL1, HGNC:HGNC:692, HumanCyc Gene:HS04438, ModBase:P40616, NCBI Gene:400, OMIM:603425, RefSeq DNA:NT_029419, RefSeq Protein:NP_001168, RefSeq RNA:NM_001177, UCSC Genome Browser:NM_001177, UniProtKB:P40616 No chr12 101786894 101802192 101393120 101407820 +PA134871031 285598 HGNC:22042 ENSG00000175414 ARF like GTPase 10 ARL10 ADP ribosylation factor like GTPase 10, ADP-ribosylation factor-like 10 ARL10A Yes No Comparative Toxicogenomics Database:285598, Ensembl:ENSG00000175414, GeneCard:ARL10, HGNC:HGNC:22042, HumanCyc Gene:HS10927, ModBase:Q8N8L6, NCBI Gene:285598, RefSeq DNA:NT_023133, RefSeq Protein:NP_775935, RefSeq RNA:NM_173664, UniProtKB:Q8N8L6 No chr5 175792477 175800934 176365468 176415085 +PA134974627 115761 HGNC:24046 ENSG00000152213 ARF like GTPase 11 ARL11 ADP ribosylation factor like GTPase 11, ADP-ribosylation factor-like 11, ADP-ribosylation factor-like tumor suppressor gene 1 ARLTS1, FLJ33930 Yes No Comparative Toxicogenomics Database:115761, Ensembl:ENSG00000152213, GeneCard:ARL11, HGNC:HGNC:24046, HumanCyc Gene:HS14416, ModBase:Q969Q4, NCBI Gene:115761, OMIM:151400, OMIM:609351, RefSeq DNA:NG_021342, RefSeq DNA:NT_024524, RefSeq Protein:NP_612459, RefSeq RNA:NM_138450, UniProtKB:Q969Q4 No chr13 50202435 50208008 49628299 49633872 +PA134890660 392509 HGNC:31709 ENSG00000174225 ARF like GTPase 13A ARL13A ADP ribosylation factor like GTPase 13A, ADP-ribosylation factor-like 13A ARL13 Yes No Ensembl:ENSG00000174225, GeneCard:ARL13A, HGNC:HGNC:31709, ModBase:Q5H913, NCBI Gene:392509, RefSeq DNA:NT_011651, RefSeq Protein:NP_001013008, RefSeq Protein:NP_001155962, RefSeq Protein:NP_001155963, RefSeq RNA:NM_001012990, RefSeq RNA:NM_001162490, RefSeq RNA:NM_001162491, UniProtKB:B2RTT6, UniProtKB:B4DX50 No chrX 100224697 100245820 100969011 100990831 +PA134975272 200894 HGNC:25419 ENSG00000169379 ARF like GTPase 13B ARL13B ADP ribosylation factor like GTPase 13B, ADP-ribosylation factor-like 13B ARL2L1, DKFZp761H079, JBTS8 Yes No Ensembl:ENSG00000169379, GeneCard:ARL13B, HGNC:HGNC:25419, HumanCyc Gene:HS15771, ModBase:Q3SXY8, NCBI Gene:200894, OMIM:608922, OMIM:612291, RefSeq DNA:NG_017076, RefSeq DNA:NT_005612, RefSeq Protein:NP_001167621, RefSeq Protein:NP_001167622, RefSeq Protein:NP_659433, RefSeq Protein:NP_878899, RefSeq RNA:NM_001174150, RefSeq RNA:NM_001174151, RefSeq RNA:NM_144996, RefSeq RNA:NM_182896, RefSeq RNA:NR_033427, UniProtKB:Q3SXY8, UniProtKB:Q8TCL5 No chr3 93698983 93774522 93980139 94055678 +PA134971739 80117 HGNC:22974 ENSG00000179674 ARF like GTPase 14 ARL14 ADP ribosylation factor like GTPase 14, ADP-ribosylation factor-like 14 ARF7, FLJ22595 Yes No Comparative Toxicogenomics Database:80117, Ensembl:ENSG00000179674, GeneCard:ARL14, HGNC:HGNC:22974, HumanCyc Gene:HS11407, ModBase:Q8N4G2, NCBI Gene:80117, RefSeq DNA:NT_005612, RefSeq Protein:NP_079323, RefSeq RNA:NM_025047, UniProtKB:Q8N4G2 No chr3 160394948 160396236 160677160 160678448 +PA142672291 120534 HGNC:26798 ENSG00000152219 ARF like GTPase 14 effector protein ARL14EP ADP ribosylation factor like GTPase 14 effector protein, ADP-ribosylation factor-like 14 effector protein ARF7EP, C11orf46, FLJ38968 Yes No Ensembl:ENSG00000152219, GeneCard:C11orf46, HGNC:HGNC:26798, HumanCyc Gene:HS14417, NCBI Gene:120534, OMIM:612295, RefSeq DNA:NT_009237, RefSeq Protein:NP_689529, RefSeq RNA:NM_152316, UniProtKB:Q8N8R7 No chr11 30344649 30359165 30323074 30338458 +PA166049115 644100 HGNC:44201 ENSG00000268223 ARF like GTPase 14 effector protein like ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like, ADP-ribosylation factor-like 14 effector protein-like Yes No Ensembl:ENSG00000268223, HGNC:HGNC:44201, NCBI Gene:644100 No chr5 115387163 115394827 116051140 116060023 +PA134960964 54622 HGNC:25945 ENSG00000185305 ARF like GTPase 15 ARL15 ADP ribosylation factor like GTPase 15, ADP-ribosylation factor-like 15 ARFRP2, FLJ20051 Yes No Comparative Toxicogenomics Database:54622, Ensembl:ENSG00000185305, GeneCard:ARL15, HGNC:HGNC:25945, ModBase:Q9NXU5, NCBI Gene:54622, RefSeq DNA:NT_006713, RefSeq Protein:NP_061960, RefSeq RNA:NM_019087, UniProtKB:Q9NXU5 No chr5 53180578 53606403 53883942 54310590 +PA142672583 339231 HGNC:27902 ENSG00000214087 ARF like GTPase 16 ARL16 ADP ribosylation factor like GTPase 16, ADP-ribosylation factor-like 16 Yes No Ensembl:ENSG00000214087, GeneCard:ARL16, HGNC:HGNC:27902, ModBase:Q0P5N6, NCBI Gene:339231, RefSeq DNA:NT_010783, RefSeq Protein:NP_001035114, RefSeq RNA:NM_001040025, UniProtKB:Q0P5N6 No chr17 79648224 79650954 81681194 81683924 +PA165431441 51326 HGNC:24096 ENSG00000136447, ENSG00000185829, ENSG00000228696 ARF like GTPase 17A ARL17A ADP ribosylation factor like GTPase 17A, ADP-ribosylation factor-like 17A ARF1P2, ARL17P1 Yes No Ensembl:ENSG00000136447, Ensembl:ENSG00000185829, Ensembl:ENSG00000228696, GeneCard:ARL17A, HGNC:HGNC:24096, HumanCyc Gene:HS13628, NCBI Gene:51326, RefSeq DNA:NT_010783, RefSeq DNA:NT_167251, RefSeq Protein:NP_001107210, RefSeq Protein:NP_057716, RefSeq RNA:NM_001113738, RefSeq RNA:NM_016632 No chr17 44577184 44657155 46500213 46579781 +PA165431478 100506084 HGNC:32387 ENSG00000136447, ENSG00000185829, ENSG00000228696 ARF like GTPase 17B ARL17B ADP ribosylation factor like GTPase 17B, ADP-ribosylation factor-like 17B ARL17 Yes No Ensembl:ENSG00000136447, Ensembl:ENSG00000185829, Ensembl:ENSG00000228696, GeneCard:ARL17B, HGNC:HGNC:32387, NCBI Gene:100506084, RefSeq DNA:NT_010783, RefSeq DNA:NT_010783.14, RefSeq DNA:NT_167251, RefSeq Protein:NP_001034172, RefSeq Protein:NP_001096624, RefSeq RNA:NM_001039083, RefSeq RNA:NM_001039083.3, RefSeq RNA:NM_001103154, RefSeq RNA:NM_001103154.1, UniProtKB:Q8IVW1 No chr17 44351550 44439416 46274184 46361872 +PA24986 402 HGNC:693 ENSG00000213465 ARF like GTPase 2 ARL2 ADP ribosylation factor like GTPase 2, ADP-ribosylation factor-like 2 ARFL2 Yes No Comparative Toxicogenomics Database:402, Ensembl:ENSG00000213465, GenAtlas:ARL2, GeneCard:ARL2, HGNC:HGNC:693, ModBase:P36404, NCBI Gene:402, OMIM:601175, RefSeq DNA:NT_167190, RefSeq Protein:NP_001186674, RefSeq Protein:NP_001658, RefSeq RNA:NM_001199745, RefSeq RNA:NM_001667, UCSC Genome Browser:NM_001667, UniProtKB:P36404, UniProtKB:Q53YD8 No chr11 64781585 64789657 65014113 65022185 +PA134904608 23568 HGNC:17146 ENSG00000102931 ARF like GTPase 2 binding protein ARL2BP ADP ribosylation factor like GTPase 2 binding protein, ADP-ribosylation factor-like 2 binding protein, binder of Arl2 BART, BART1, RP66 Yes No Comparative Toxicogenomics Database:23568, Ensembl:ENSG00000102931, GeneCard:ARL2BP, HGNC:HGNC:17146, HumanCyc Gene:HS02430, ModBase:Q9Y2Y0, NCBI Gene:23568, RefSeq DNA:NT_010498, RefSeq Protein:NP_036238, RefSeq RNA:NM_012106, UniProtKB:Q9Y2Y0 No chr16 57279037 57287547 57245126 57253635 +PA134924884 399666 HGNC:17742 ENSG00000265934 ADP-ribosylation factor-like 2 binding protein pseudogene 1 ARL2BPP1 HsT2883 Yes No Ensembl:ENSG00000265934, GeneCard:ARL2BPP1, HGNC:HGNC:17742, NCBI Gene:399666 No chr18 74415819 74416210 76703863 76704254 +PA134993885 643898 HGNC:31036 ENSG00000258071 ADP-ribosylation factor-like 2 binding protein pseudogene 2 ARL2BPP2 bcm1040 Yes No Ensembl:ENSG00000258071, GeneCard:ARL2BPL, HGNC:HGNC:31036, NCBI Gene:643898 No chr12 53157166 53157677 52763357 52764092 +PA24987 403 HGNC:694 ENSG00000138175 ARF like GTPase 3 ARL3 ADP ribosylation factor like GTPase 3, ADP-ribosylation factor-like 3 ARFL3 Yes No Comparative Toxicogenomics Database:403, Ensembl:ENSG00000138175, GenAtlas:ARL3, GeneCard:ARL3, HGNC:HGNC:694, HumanCyc Gene:HS06469, ModBase:P36405, NCBI Gene:403, OMIM:604695, RefSeq DNA:NT_030059, RefSeq Protein:NP_004302, RefSeq RNA:NM_004311, UCSC Genome Browser:NM_004311, UniProtKB:P36405 No chr10 104433484 104474190 102673727 102714433 +PA24988 10124 HGNC:695 ENSG00000122644 ARF like GTPase 4A ARL4A ADP ribosylation factor like GTPase 4A, ADP-ribosylation factor-like 4A ARL4 Yes No Comparative Toxicogenomics Database:10124, Ensembl:ENSG00000122644, GenAtlas:ARL4A, GeneCard:ARL4A, HGNC:HGNC:695, HumanCyc Gene:HS04586, ModBase:P40617, NCBI Gene:10124, OMIM:604786, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001032241, RefSeq Protein:NP_001182325, RefSeq Protein:NP_005729, RefSeq Protein:NP_997625, RefSeq RNA:NM_001037164, RefSeq RNA:NM_001195396, RefSeq RNA:NM_005738, RefSeq RNA:NM_212460, UCSC Genome Browser:NM_005738, UniProtKB:P40617 No chr7 12726452 12730559 12686827 12690934 +PA24991 10123 HGNC:698 ENSG00000188042 ARF like GTPase 4C ARL4C ADP ribosylation factor like GTPase 4C, ADP-ribosylation factor-like 4C ARL7, LAK Yes No Comparative Toxicogenomics Database:10123, Ensembl:ENSG00000188042, GenAtlas:ARL4C, GeneCard:ARL4C, HGNC:HGNC:698, ModBase:P56559, NCBI Gene:10123, OMIM:604787, RefSeq DNA:NT_005120, RefSeq Protein:NP_005728, RefSeq RNA:NM_005737, UCSC Genome Browser:NM_005737, UniProtKB:P56559 No chr2 235401685 235405721 234493041 234497053 +PA24938 379 HGNC:656 ENSG00000175906 ARF like GTPase 4D ARL4D ADP ribosylation factor like GTPase 4D, ADP-ribosylation factor-like 4D ARF4L Yes No Comparative Toxicogenomics Database:379, Ensembl:ENSG00000175906, GenAtlas:ARL4D, GeneCard:ARL4D, HGNC:HGNC:656, HumanCyc Gene:HS10986, ModBase:P49703, NCBI Gene:379, OMIM:600732, RefSeq DNA:NT_010783, RefSeq Protein:NP_001652, RefSeq RNA:NM_001661, UCSC Genome Browser:NM_001661, UniProtKB:P49703 No chr17 41476353 41478504 43398985 43401136 +PA24989 26225 HGNC:696 ENSG00000162980 ARF like GTPase 5A ARL5A ADP ribosylation factor like GTPase 5A, ADP-ribosylation factor-like 5A ARL5 Yes No Comparative Toxicogenomics Database:26225, Ensembl:ENSG00000162980, GenAtlas:ARL5A, GeneCard:ARL5A, HGNC:HGNC:696, HumanCyc Gene:HS08767, ModBase:Q9Y689, NCBI Gene:26225, OMIM:608960, RefSeq DNA:NT_005403, RefSeq Protein:NP_001032251, RefSeq Protein:NP_036229, RefSeq Protein:NP_817114, RefSeq RNA:NM_001037174, RefSeq RNA:NM_012097, RefSeq RNA:NM_177985, UCSC Genome Browser:NM_012097, UniProtKB:Q580I5, UniProtKB:Q9Y689 No chr2 152657480 152685009 151800966 151828495 +PA134979161 221079 HGNC:23052 ENSG00000165997 ARF like GTPase 5B ARL5B ADP ribosylation factor like GTPase 5B, ADP-ribosylation factor-like 5B ARL8 Yes No Ensembl:ENSG00000165997, GeneCard:ARL5B, HGNC:HGNC:23052, ModBase:Q96KC2, NCBI Gene:221079, OMIM:608909, RefSeq DNA:NT_008705, RefSeq Protein:NP_848930, RefSeq RNA:NM_178815, UniProtKB:B0YIW9, UniProtKB:Q96KC2 No chr10 18948264 18970568 18659335 18681639 +PA134964408 390790 HGNC:31111 ENSG00000141748 ARF like GTPase 5C ARL5C ADP ribosylation factor like GTPase 5C, ADP-ribosylation factor-like 5C ARL12 Yes No Ensembl:ENSG00000141748, GeneCard:ARL5C, HGNC:HGNC:31111, ModBase:A6NH57, NCBI Gene:390790, RefSeq DNA:NT_010783, RefSeq Protein:NP_001137440, RefSeq RNA:NM_001143968, UniProtKB:A6NH57 No chr17 37313147 37322414 39156894 39166161 +PA134931939 84100 HGNC:13210 ENSG00000113966 ARF like GTPase 6 ARL6 ADP ribosylation factor like GTPase 6, ADP-ribosylation factor-like 6, ARL6 interacting reticulophagy regulator 1 BBS3, RP55 Yes No Comparative Toxicogenomics Database:84100, Ensembl:ENSG00000113966, GeneCard:ARL6, HGNC:HGNC:13210, HumanCyc Gene:HS03730, ModBase:Q9H0F7, NCBI Gene:84100, OMIM:209900, OMIM:608845, RefSeq DNA:NG_008119, RefSeq DNA:NT_005612, RefSeq Protein:NP_115522, RefSeq Protein:NP_816931, RefSeq RNA:NM_032146, RefSeq RNA:NM_177976, UniProtKB:Q9H0F7 No chr3 97483365 97520086 97762875 97812585 +PA162376894 23204 HGNC:697 ENSG00000170540 ARL6 interacting reticulophagy regulator 1 ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1, ADP-ribosylation factor-like 6 interacting protein 1, ARF like GTPase 6 interacting protein 1 AIP1, ARL6IP, ARMER, KIAA0069, SPG61 Yes No Ensembl:ENSG00000170540, GeneCard:ARL6IP1, HGNC:HGNC:697, HumanCyc Gene:HS10145, ModBase:Q15041, NCBI Gene:23204, OMIM:607669, RefSeq DNA:NT_010393, RefSeq Protein:NP_055976, RefSeq RNA:NM_015161, UniProtKB:Q15041 No chr16 18802991 18812894 18791667 18801678 +PA134879338 51329 HGNC:18076 ENSG00000182196 ARF like GTPase 6 interacting protein 4 ARL6IP4 """ADP ribosylation factor like GTPase 6 interacting protein 4"", ""ADP-ribosylation factor-like 6 interacting protein 4"", ""ADP-ribosylation-like factor 6 interacting protein 4"", ""SRp25 nuclear protein"", ""splicing factor, arginine/serine-rich 20""" SFRS20, SR-25, SRp25, SRrp37 Yes No Ensembl:ENSG00000182196, GeneCard:ARL6IP4, HGNC:HGNC:18076, ModBase:Q66PJ3, NCBI Gene:51329, OMIM:607668, RefSeq DNA:NT_009755, RefSeq Protein:NP_001002251, RefSeq Protein:NP_001002252, RefSeq Protein:NP_057722, RefSeq Protein:NP_061164, RefSeq RNA:NM_001002251, RefSeq RNA:NM_001002252, RefSeq RNA:NM_016638, RefSeq RNA:NM_018694, UniProtKB:B3V0L0, UniProtKB:Q66PJ3 No chr12 123464607 123467460 122980060 122982913 +PA134898937 10550 HGNC:16937 ENSG00000144746 ARF like GTPase 6 interacting protein 5 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5, ADP-ribosylation factor-like 6 interacting protein 5, ADP-ribosylation-like factor 6 interacting protein 5, PRA1 domain family 3, addicsin DERP11, GTRAP3-18, HSPC127, JWA, PRAF3, Yip6b Yes No Comparative Toxicogenomics Database:10550, Ensembl:ENSG00000144746, GeneCard:ARL6IP5, HGNC:HGNC:16937, HumanCyc Gene:HS14047, NCBI Gene:10550, OMIM:605709, RefSeq DNA:NT_022459, RefSeq Protein:NP_006398, RefSeq RNA:NM_006407, UniProtKB:O75915 No chr3 69134090 69155239 69084939 69106088 +PA134866669 151188 HGNC:24048 ENSG00000177917 ARF like GTPase 6 interacting protein 6 ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6, ADP-ribosylation factor-like 6 interacting protein 6, ADP-ribosylation-like factor 6 interacting protein 6 MGC33864 Yes No Ensembl:ENSG00000177917, GeneCard:ARL6IP6, HGNC:HGNC:24048, HumanCyc Gene:HS16949, ModBase:Q8N6S5, NCBI Gene:151188, RefSeq DNA:NT_005403, RefSeq Protein:NP_689735, RefSeq RNA:NM_152522, RefSeq RNA:NR_024526, UniProtKB:B3KMZ5, UniProtKB:Q8N6S5 No chr2 153574407 153617767 152717893 152761253 +PA134905021 127829 HGNC:25192 ENSG00000143862 ARF like GTPase 8A ARL8A ADP ribosylation factor like GTPase 8A, ADP-ribosylation factor-like 8A, GTPase indispensable for equal segregation of chromosomes 2 ARL10B, FLJ45195, Gie2 Yes No Comparative Toxicogenomics Database:127829, Ensembl:ENSG00000143862, GeneCard:ARL8A, HGNC:HGNC:25192, HumanCyc Gene:HS07119, ModBase:Q96BM9, NCBI Gene:127829, RefSeq DNA:NT_004487, RefSeq Protein:NP_620150, RefSeq RNA:NM_138795, UniProtKB:Q96BM9 No chr1 202102532 202113871 202133404 202144743 +PA134959531 55207 HGNC:25564 ENSG00000134108 ARF like GTPase 8B ARL8B ADP ribosylation factor like GTPase 8B, ADP-ribosylation factor-like 8B, GTPase indispensable for equal segregation of chromosomes 1 ARL10C, FLJ10702, Gie1 Yes No Comparative Toxicogenomics Database:55207, Ensembl:ENSG00000134108, GeneCard:ARL8B, HGNC:HGNC:25564, HumanCyc Gene:HS05819, ModBase:Q9NVJ2, NCBI Gene:55207, RefSeq DNA:NT_022517, RefSeq Protein:NP_060654, RefSeq RNA:NM_018184, UniProtKB:Q9NVJ2 No chr3 5163930 5222601 5122245 5180916 +PA134987258 132946 HGNC:23592 ENSG00000196503 ARF like GTPase 9 ARL9 ADP ribosylation factor like GTPase 9, ADP-ribosylation factor-like 9 Yes No Ensembl:ENSG00000196503, GeneCard:ARL9, HGNC:HGNC:23592, ModBase:Q6T311, NCBI Gene:132946, OMIM:612405, RefSeq DNA:NT_022853, RefSeq Protein:NP_996802, RefSeq RNA:NM_206919, UniProtKB:Q6T311 No chr4 57371375 57390149 56505209 56525174 +PA164717306 401152 HGNC:19225 ENSG00000164096 allregulin ARLN HCV F-transactivated protein 1, another-regulin, chromosome 4 open reading frame 3 ALN, C4orf3, HCVFTP1 Yes No Ensembl:ENSG00000164096, GeneCard:C4orf3, HGNC:HGNC:19225, NCBI Gene:401152, RefSeq DNA:NT_016354, RefSeq Protein:NP_001001701, RefSeq Protein:NP_001163801, RefSeq RNA:NM_001001701, RefSeq RNA:NM_001170330, UniProtKB:Q8WVX3 No chr4 120217574 120225600 119296419 119304445 +PA134882659 55156 HGNC:17684 ENSG00000104442 armadillo repeat containing 1 ARMC1 Arcp, FLJ10511 Yes No Comparative Toxicogenomics Database:55156, Ensembl:ENSG00000104442, GeneCard:ARMC1, HGNC:HGNC:17684, HumanCyc Gene:HS12552, ModBase:Q9NVT9, NCBI Gene:55156, RefSeq DNA:NT_008183, RefSeq Protein:NP_060590, RefSeq RNA:NM_018120, UniProtKB:Q9NVT9 No chr8 66514691 66546452 65602456 65634217 +PA162376895 83787 HGNC:21706 ENSG00000170632 armadillo repeat containing 10 ARMC10 specific Splicing Variant involved in Hepatocarcinogenesis MGC3195, SVH Yes No Ensembl:ENSG00000170632, GeneCard:ARMC10, HGNC:HGNC:21706, HumanCyc Gene:HS15905, ModBase:Q9BTM6, NCBI Gene:83787, OMIM:611864, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001154481, RefSeq Protein:NP_001154482, RefSeq Protein:NP_001154483, RefSeq Protein:NP_001154484, RefSeq Protein:NP_001154485, RefSeq Protein:NP_114111, RefSeq RNA:NM_001161009, RefSeq RNA:NM_001161010, RefSeq RNA:NM_001161011, RefSeq RNA:NM_001161012, RefSeq RNA:NM_001161013, RefSeq RNA:NM_031905, UniProtKB:B4DWJ8, UniProtKB:Q8N2F6 No chr7 102715174 102740210 103074727 103099763 +PA134885894 221481 HGNC:21099 ENSG00000157343 armadillo repeat containing 12 ARMC12 C6orf81, FLJ25390 Yes No Ensembl:ENSG00000157343, GeneCard:C6orf81, HGNC:HGNC:21099, HumanCyc Gene:HS14656, ModBase:Q5T9G4, NCBI Gene:221481, RefSeq DNA:NT_007592, RefSeq Protein:NP_659465, RefSeq RNA:NM_145028, UniProtKB:Q5T9G4 No chr6 35701567 35716690 35733726 35748913 +PA134943829 84071 HGNC:23045 ENSG00000118690 armadillo repeat containing 2 ARMC2 DKFZp434P0714, bA787I22.1 Yes No Ensembl:ENSG00000118690, GeneCard:ARMC2, HGNC:HGNC:23045, HumanCyc Gene:HS12923, ModBase:Q8NEN0, NCBI Gene:84071, RefSeq DNA:NT_025741, RefSeq Protein:NP_115507, RefSeq RNA:NM_032131, UniProtKB:Q8NEN0 No chr6 109169617 109295352 108848410 108990738 +PA134917281 219681 HGNC:30964 ENSG00000165309 armadillo repeat containing 3 ARMC3 cancer/testis antigen 81 CT81, FLJ32827, VAC8 Yes No Ensembl:ENSG00000165309, GeneCard:ARMC3, HGNC:HGNC:30964, HumanCyc Gene:HS09216, ModBase:Q5W041, NCBI Gene:219681, OMIM:611226, RefSeq DNA:NT_008705, RefSeq Protein:NP_775104, RefSeq RNA:NM_173081, UniProtKB:Q5W041 No chr10 23216954 23327452 22928024 23038527 +PA134926941 79798 HGNC:25781 ENSG00000140691 armadillo repeat containing 5 ARMC5 FLJ13063 Yes No Comparative Toxicogenomics Database:79798, Ensembl:ENSG00000140691, GeneCard:ARMC5, HGNC:HGNC:25781, ModBase:Q96C12, NCBI Gene:79798, RefSeq DNA:NT_010393, RefSeq Protein:NP_001098717, RefSeq Protein:NP_079018, RefSeq RNA:NM_001105247, RefSeq RNA:NM_024742, UniProtKB:Q96C12 No chr16 31469010 31478488 31458273 31467167 +PA134884604 93436 HGNC:25049 ENSG00000105676 armadillo repeat containing 6 ARMC6 MGC19595 Yes No Comparative Toxicogenomics Database:93436, Ensembl:ENSG00000105676, GeneCard:ARMC6, HGNC:HGNC:25049, HumanCyc Gene:HS12600, ModBase:Q6NXE6, NCBI Gene:93436, RefSeq DNA:NT_011295, RefSeq Protein:NP_001186125, RefSeq Protein:NP_219483, RefSeq RNA:NM_001199196, RefSeq RNA:NM_033415, UniProtKB:Q6NXE6 No chr19 19144387 19168987 19033578 19058178 +PA134901380 79637 HGNC:26168 ENSG00000125449 armadillo repeat containing 7 ARMC7 FLJ22160 Yes No Ensembl:ENSG00000125449, GeneCard:ARMC7, HGNC:HGNC:26168, HumanCyc Gene:HS13160, ModBase:Q9H6L4, NCBI Gene:79637, RefSeq DNA:NT_010783, RefSeq Protein:NP_078861, RefSeq RNA:NM_024585, UniProtKB:Q9H6L4 No chr17 73106047 73126360 75109952 75130265 +PA134984953 25852 HGNC:24999 ENSG00000114098 armadillo repeat containing 8 ARMC8 GID complex subunit 5, VID28 homolog (S. cerevisiae) DKFZP434A043, GID5, HSPC056, VID28 Yes No Ensembl:ENSG00000114098, GeneCard:ARMC8, HGNC:HGNC:24999, NCBI Gene:25852, RefSeq DNA:NT_005612, RefSeq Protein:NP_054873, RefSeq Protein:NP_056211, RefSeq Protein:NP_998819, RefSeq RNA:NM_014154, RefSeq RNA:NM_015396, RefSeq RNA:NM_213654, UniProtKB:Q8IUR7 No chr3 137906115 138017231 138187248 138298389 +PA142672581 80210 HGNC:20730 ENSG00000135931 armadillo repeat containing 9 ARMC9 ARM, FLJ12584, KIAA1868, KU-MEL-1 Yes No Comparative Toxicogenomics Database:80210, Ensembl:ENSG00000135931, GeneCard:ARMC9, HGNC:HGNC:20730, HumanCyc Gene:HS13599, NCBI Gene:80210, RefSeq DNA:NT_005403, RefSeq Protein:NP_079415, RefSeq RNA:NM_025139, UniProtKB:Q7Z3E5 No chr2 232063294 232238606 231198546 231394991 +PA128394658 51309 HGNC:18073 ENSG00000126947 armadillo repeat containing X-linked 1 ARMCX1 armadillo repeat containing, X-linked 1 ALEX1, GASP7 Yes No Ensembl:ENSG00000126947, GeneCard:ARMCX1, HGNC:HGNC:18073, HumanCyc Gene:HS13225, ModBase:Q9P291, NCBI Gene:51309, OMIM:300362, RefSeq DNA:NG_015846, RefSeq DNA:NT_011651, RefSeq Protein:NP_057692, RefSeq RNA:NM_016608, UCSC Genome Browser:NM_016608, UniProtKB:Q9P291 No chrX 100805466 100809683 101550531 101554700 +PA134985862 9823 HGNC:16869 ENSG00000184867 armadillo repeat containing X-linked 2 ARMCX2 armadillo repeat containing, X-linked 2 ALEX2, GASP9, KIAA0512 Yes No Comparative Toxicogenomics Database:9823, Ensembl:ENSG00000184867, GeneCard:ARMCX2, HGNC:HGNC:16869, ModBase:Q7L311, NCBI Gene:9823, OMIM:300363, RefSeq DNA:NG_013221, RefSeq DNA:NT_011651, RefSeq Protein:NP_055597, RefSeq Protein:NP_808818, RefSeq RNA:NM_014782, RefSeq RNA:NM_177949, UniProtKB:Q7L311 No chrX 100910267 100914894 101655281 101659891 +PA134977725 51566 HGNC:24065 ENSG00000102401 armadillo repeat containing X-linked 3 ARMCX3 armadillo repeat containing, X-linked 3 ALEX3, GASP6 Yes No Comparative Toxicogenomics Database:51566, Ensembl:ENSG00000102401, GeneCard:ARMCX3, HGNC:HGNC:24065, HumanCyc Gene:HS12484, ModBase:Q9UH62, NCBI Gene:51566, OMIM:300364, RefSeq DNA:NG_013222, RefSeq DNA:NT_011651, RefSeq Protein:NP_057691, RefSeq Protein:NP_808816, RefSeq Protein:NP_808817, RefSeq RNA:NM_016607, RefSeq RNA:NM_177947, RefSeq RNA:NM_177948, UniProtKB:Q9UH62 No chrX 100878117 100882833 101623127 101631910 +PA134971205 100131755 HGNC:28615 ENSG00000196440 armadillo repeat containing X-linked 4 ARMCX4 armadillo repeat containing, X-linked 4 CXorf35, GASP4, MGC40053 Yes No Comparative Toxicogenomics Database:158947, Ensembl:ENSG00000196440, GeneCard:ARMCX4, HGNC:HGNC:28615, NCBI Gene:100131755, RefSeq DNA:NG_017196, RefSeq DNA:NT_011651, RefSeq Protein:XP_001713936, RefSeq Protein:XP_001717051, RefSeq Protein:XP_001717934, RefSeq Protein:XP_002346361, RefSeq RNA:NR_028407, RefSeq RNA:XM_001713884, RefSeq RNA:XM_001716999, RefSeq RNA:XM_001717882, RefSeq RNA:XM_002346320 No chrX 100673064 100790975 101418263 101535988 +PA134910322 64860 HGNC:25772 ENSG00000125962 armadillo repeat containing X-linked 5 ARMCX5 armadillo repeat containing, X-linked 5 FLJ12969, GASP5 Yes No Ensembl:ENSG00000125962, GeneCard:ARMCX5, HGNC:HGNC:25772, HumanCyc Gene:HS04976, ModBase:Q6P1M9, NCBI Gene:64860, RefSeq DNA:NG_016347, RefSeq DNA:NT_011651, RefSeq Protein:NP_001161950, RefSeq Protein:NP_001161951, RefSeq Protein:NP_001161952, RefSeq Protein:NP_001161954, RefSeq Protein:NP_001161957, RefSeq Protein:NP_073749, RefSeq RNA:NM_001168478, RefSeq RNA:NM_001168479, RefSeq RNA:NM_001168480, RefSeq RNA:NM_001168482, RefSeq RNA:NM_001168485, RefSeq RNA:NM_022838, UniProtKB:Q6P1M9 No chrX 101854096 101859087 102599168 102604159 +PA134869551 54470 HGNC:26094 ENSG00000198960 armadillo repeat containing X-linked 6 ARMCX6 armadillo repeat containing, X-linked 6 FLJ20811, GASP10 Yes No Ensembl:ENSG00000198960, GeneCard:ARMCX6, HGNC:HGNC:26094, ModBase:Q7L4S7, NCBI Gene:54470, RefSeq DNA:NG_021313, RefSeq DNA:NT_011651, RefSeq Protein:NP_001009584, RefSeq Protein:NP_001171697, RefSeq Protein:NP_061880, RefSeq RNA:NM_001009584, RefSeq RNA:NM_001184768, RefSeq RNA:NM_019007, RefSeq RNA:NR_033669, RefSeq RNA:NR_033670, UniProtKB:Q7L4S7 No chrX 100870108 100872991 101615118 101618001 +PA164717053 339541 HGNC:34345 ENSG00000198520 armadillo like helical domain containing 1 ARMH1 armadillo-like helical domain containing 1, chromosome 1 open reading frame 228 C1orf228, MGC33556, NCRNA00082, p40 Yes No Ensembl:ENSG00000198520, GeneCard:C1orf228, HGNC:HGNC:34345, NCBI Gene:339541, RefSeq DNA:NT_032977, RefSeq Protein:NP_001139108, RefSeq RNA:NM_001145636, UniProtKB:Q6PIY5 No chr1 45140370 45191263 44674696 44725591 +PA166180561 101928603 HGNC:49394 ENSG00000260286 armadillo like helical domain containing 2 ARMH2 armadillo-like helical domain containing 2 C6orf229 Yes No Ensembl:ENSG00000260286, HGNC:HGNC:49394, NCBI Gene:101928603 No 0 0 0 0 +PA134903060 79591 HGNC:25788 ENSG00000120029 armadillo like helical domain containing 3 ARMH3 armadillo-like helical domain containing 3, chromosome 10 open reading frame 76, distal Golgi armadillo repeat protein C10orf76, DGARM, FLJ13114 Yes No Comparative Toxicogenomics Database:79591, Ensembl:ENSG00000120029, GeneCard:C10orf76, HGNC:HGNC:25788, HumanCyc Gene:HS12972, ModBase:Q5T2E6, NCBI Gene:79591, RefSeq DNA:NT_030059, RefSeq Protein:NP_078817, RefSeq RNA:NM_024541, UniProtKB:Q5T2E6 No chr10 103605356 103815932 101845599 102056237 +PA134941886 145407 HGNC:19846 ENSG00000139971 armadillo like helical domain containing 4 ARMH4 armadillo-like helical domain containing 4, chromosome 14 open reading frame 37, upstream of mTORC2 C14orf37, UT2 Yes No Ensembl:ENSG00000139971, GeneCard:C14orf37, HGNC:HGNC:19846, ModBase:Q86TY3, NCBI Gene:145407, RefSeq DNA:NT_026437, RefSeq Protein:NP_001001872, RefSeq RNA:NM_001001872, UniProtKB:Q86TY3 No chr14 58470808 58618847 57993536 58152305 +PA162376896 387715 HGNC:32685 ENSG00000254636 age-related maculopathy susceptibility 2 ARMS2 ARMD8, LOC387715 Yes Yes Ensembl:ENSG00000254636, GeneCard:ARMS2, HGNC:HGNC:32685, NCBI Gene:387715, OMIM:611313, RefSeq DNA:NG_011725, RefSeq DNA:NT_030059, RefSeq Protein:NP_001093137, RefSeq RNA:NM_001099667, UniProtKB:P0C7Q2 No chr10 124214179 124216868 122454663 122457352 +PA134870747 79624 HGNC:17872 ENSG00000146476 acidic residue methyltransferase 1 ARMT1 Protein-glutamate O-methyltransferase, chromosome 6 open reading frame 211 C6orf211, FLJ12910 Yes No Ensembl:ENSG00000146476, GeneCard:C6orf211, HGNC:HGNC:17872, HumanCyc Gene:HS14158, ModBase:Q9H993, NCBI Gene:79624, RefSeq DNA:NT_025741, RefSeq Protein:NP_078849, RefSeq RNA:NM_024573, UniProtKB:Q9H993 No chr6 151773422 151791236 151452258 151470101 +PA24994 405 HGNC:700 ENSG00000143437 aryl hydrocarbon receptor nuclear translocator ARNT hypoxia inducible factor 1 subunit beta ARNT1, HIF-1beta, bHLHe2 Yes Yes Comparative Toxicogenomics Database:405, Ensembl:ENSG00000143437, GenAtlas:ARNT, GeneCard:ARNT, HGNC:HGNC:700, HumanCyc Gene:HS07055, ModBase:P27540, NCBI Gene:405, OMIM:126110, RefSeq DNA:NT_004487, RefSeq Protein:NP_001184254, RefSeq Protein:NP_001659, RefSeq Protein:NP_848513, RefSeq Protein:NP_848514, RefSeq RNA:NM_001197325, RefSeq RNA:NM_001668, RefSeq RNA:NM_178426, RefSeq RNA:NM_178427, UCSC Genome Browser:NM_001668, UniProtKB:P27540 No chr1 150782181 150849244 150809705 150876768 +PA24995 9915 HGNC:16876 ENSG00000172379 aryl hydrocarbon receptor nuclear translocator 2 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 KIAA0307, bHLHe1 Yes No Comparative Toxicogenomics Database:9915, Ensembl:ENSG00000172379, GenAtlas:ARNT2, GeneCard:ARNT2, HGNC:HGNC:16876, HumanCyc Gene:HS10507, ModBase:Q9HBZ2, NCBI Gene:9915, OMIM:606036, RefSeq DNA:NT_010194, RefSeq Protein:NP_055677, RefSeq RNA:NM_014862, UCSC Genome Browser:NM_014862, UniProtKB:Q7Z3A3, UniProtKB:Q86TN1, UniProtKB:Q9HBZ2 No chr15 80696692 80890278 80404350 80597937 +PA24997 10552 HGNC:703 ENSG00000241685 actin related protein 2/3 complex subunit 1A ARPC1A """SOP2-like protein"", ""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""actin related protein 2/3 complex, subunit 1A, 41kDa""" Arc40, SOP2Hs, SOP2L Yes No Ensembl:ENSG00000241685, GenAtlas:ARPC1A, GeneCard:ARPC1A, HGNC:HGNC:703, ModBase:Q92747, NCBI Gene:10552, OMIM:604220, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001177925, RefSeq Protein:NP_006400, RefSeq RNA:NM_001190996, RefSeq RNA:NM_006409, UCSC Genome Browser:NM_006409, UniProtKB:Q92747 No chr7 98923496 98963885 99325873 99366262 +PA24998 10095 HGNC:704 ENSG00000130429 actin related protein 2/3 complex subunit 1B ARPC1B """ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"", ""actin related protein 2/3 complex, subunit 1B, 41kDa""" ARC41, p40-ARC, p41-ARC Yes No Comparative Toxicogenomics Database:10095, Ensembl:ENSG00000130429, GenAtlas:ARPC1B, GeneCard:ARPC1B, HGNC:HGNC:704, HumanCyc Gene:HS05387, ModBase:O15143, NCBI Gene:10095, OMIM:604223, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_005711, RefSeq RNA:NM_005720, UCSC Genome Browser:NM_005720, UniProtKB:A4D275, UniProtKB:O15143 No chr7 98972298 99004226 99374675 99394801 +PA24999 10109 HGNC:705 ENSG00000163466 actin related protein 2/3 complex subunit 2 ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa ARC34, p34-Arc Yes No Comparative Toxicogenomics Database:10109, Ensembl:ENSG00000163466, GenAtlas:ARPC2, GeneCard:ARPC2, HGNC:HGNC:705, HumanCyc Gene:HS08854, ModBase:O15144, NCBI Gene:10109, OMIM:604224, RefSeq DNA:NT_005403, RefSeq Protein:NP_005722, RefSeq Protein:NP_690601, RefSeq RNA:NM_005731, RefSeq RNA:NM_152862, UCSC Genome Browser:NM_005731, UniProtKB:O15144, UniProtKB:Q53R19 No chr2 219081817 219119071 218217094 218254348 +PA25000 10094 HGNC:706 ENSG00000111229 actin related protein 2/3 complex subunit 3 ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa ARC21, p21-Arc Yes No Comparative Toxicogenomics Database:10094, Ensembl:ENSG00000111229, GenAtlas:ARPC3, GeneCard:ARPC3, HGNC:HGNC:706, HumanCyc Gene:HS03382, NCBI Gene:10094, OMIM:604225, RefSeq DNA:NT_009775, RefSeq Protein:NP_005710, RefSeq RNA:NM_005719, UCSC Genome Browser:NM_005719, UniProtKB:O15145 No chr12 110872695 110888222 110434890 110450411 +PA25001 87171 HGNC:16092 ENSG00000226284 actin related protein 2/3 complex, subunit 3 pseudogene 1 ARPC3P1 dJ470L14.3 Yes No Ensembl:ENSG00000226284, GenAtlas:ARPC3B, GeneCard:ARPC3P1, HGNC:HGNC:16092, NCBI Gene:87171, RefSeq DNA:NG_002363, RefSeq DNA:NT_011362, UCSC Genome Browser:NM_080602 No chr20 47750988 47751791 49134451 49135273 +PA25002 10093 HGNC:707 ENSG00000241553 actin related protein 2/3 complex subunit 4 ARPC4 """Arp2/3 protein complex subunit p20"", ""actin related protein 2/3 complex, subunit 4 (20 kD)"", ""actin related protein 2/3 complex, subunit 4, 20kDa""" ARC20, p20-Arc Yes No Comparative Toxicogenomics Database:10093, Ensembl:ENSG00000241553, GenAtlas:ARPC4, GeneCard:ARPC4, HGNC:HGNC:707, ModBase:P59998, NCBI Gene:10093, OMIM:604226, RefSeq DNA:NT_022517, RefSeq Protein:NP_001020130, RefSeq Protein:NP_001020131, RefSeq Protein:NP_001185709, RefSeq Protein:NP_005709, RefSeq RNA:NM_001024959, RefSeq RNA:NM_001024960, RefSeq RNA:NM_001198780, RefSeq RNA:NM_005718, UCSC Genome Browser:NM_005718, UniProtKB:C9JJ59, UniProtKB:P59998 No chr3 9834082 9848789 9792495 9807105 +PA25003 10092 HGNC:708 ENSG00000162704 actin related protein 2/3 complex subunit 5 ARPC5 """Arp2/3 protein complex subunit p16"", ""actin related protein 2/3 complex, subunit 5, 16kDa""" ARC16, dJ127C7.3, p16-Arc Yes No Comparative Toxicogenomics Database:10092, Ensembl:ENSG00000162704, GenAtlas:ARPC5, GeneCard:ARPC5, HGNC:HGNC:708, HumanCyc Gene:HS08722, ModBase:O15511, NCBI Gene:10092, OMIM:604227, RefSeq DNA:NT_004487, RefSeq Protein:NP_005708, RefSeq RNA:NM_005717, UCSC Genome Browser:NM_005717, UniProtKB:O15511 No chr1 183595328 183605076 183626193 183635941 +PA134991012 81873 HGNC:23366 ENSG00000136950 actin related protein 2/3 complex subunit 5 like ARPC5L actin related protein 2/3 complex, subunit 5-like ARC16-2, MGC3038 Yes No Ensembl:ENSG00000136950, GeneCard:ARPC5L, HGNC:HGNC:23366, HumanCyc Gene:HS13650, ModBase:Q9BPX5, NCBI Gene:81873, RefSeq DNA:NT_008470, RefSeq Protein:NP_112240, RefSeq RNA:NM_030978, UniProtKB:Q9BPX5 No chr9 127626267 127640012 124862118 124877733 +PA142672274 348110 HGNC:28782 ENSG00000242498 actin related protein 2/3 complex inhibitor ARPIN actin-related protein 2/3 complex inhibitor, chromosome 15 open reading frame 38 C15orf38, MGC61550 Yes No Ensembl:ENSG00000242498, GeneCard:C15orf38, HGNC:HGNC:28782, NCBI Gene:348110, RefSeq DNA:NT_010274, RefSeq Protein:NP_872422, RefSeq RNA:NM_182616, UniProtKB:Q7Z6K5 No chr15 90443832 90456222 89896532 89912990 +PA165478498 10776 HGNC:16967 ENSG00000128989 cAMP regulated phosphoprotein 19 ARPP19 """cAMP-regulated phosphoprotein, 19kDa"", ""endosulfine alpha-like""" ARPP-16, ARPP-19, ARPP16, ENSAL Yes No Ensembl:ENSG00000128989, GeneCard:ARPP19, HGNC:HGNC:16967, HumanCyc Gene:HS05236, NCBI Gene:10776, OMIM:605487, RefSeq DNA:NT_010194, RefSeq Protein:NP_006619, RefSeq RNA:NM_006628, UniProtKB:P56211 No chr15 52839384 52861436 52547045 52569446 +PA166048949 10777 HGNC:16968 ENSG00000172995 cAMP regulated phosphoprotein 21 ARPP21 """R3H domain containing 3"", ""cAMP-regulated phosphoprotein, 21kDa""" ARPP-21, R3HDM3, TARPP Yes No Ensembl:ENSG00000172995, HGNC:HGNC:16968, NCBI Gene:10777 No chr3 35680666 35835988 35638981 35798933 +PA25004 407 HGNC:710 ENSG00000120500 arrestin 3 ARR3 """arrestin 3, retinal (X-arrestin)"", ""arrestin 4"", ""arrestin-C"", ""cone arrestin""" ARRX Yes No Ensembl:ENSG00000120500, GenAtlas:ARR3, GeneCard:ARR3, HGNC:HGNC:710, HumanCyc Gene:HS04405, ModBase:P36575, NCBI Gene:407, OMIM:301770, RefSeq DNA:NT_011669, RefSeq Protein:NP_004303, RefSeq RNA:NM_004312, UCSC Genome Browser:NM_004312, UniProtKB:P36575 No chrX 69488185 69501691 70268335 70281840 +PA59 408 HGNC:711 ENSG00000137486 arrestin beta 1 ARRB1 """arrestin 2"", ""arrestin, beta 1""" ARR1 Yes Yes Comparative Toxicogenomics Database:408, Ensembl:ENSG00000137486, GenAtlas:ARRB1, GeneCard:ARRB1, HGNC:HGNC:711, HumanCyc Gene:HS06346, ModBase:P49407, NCBI Gene:408, OMIM:107940, RefSeq DNA:NT_167190, RefSeq Protein:NP_004032, RefSeq Protein:NP_064647, RefSeq RNA:NM_004041, RefSeq RNA:NM_020251, UCSC Genome Browser:NM_004041, UniProtKB:P49407 No chr11 74971166 75062875 75260122 75351831 +PA60 409 HGNC:712 ENSG00000141480 arrestin beta 2 ARRB2 """arrestin 3"", ""arrestin, beta 2""" ARR2, BARR2, DKFZp686L0365 Yes Yes Comparative Toxicogenomics Database:409, Ensembl:ENSG00000141480, GenAtlas:ARRB2, GeneCard:ARRB2, HGNC:HGNC:712, HumanCyc Gene:HS06835, ModBase:P32121, NCBI Gene:409, OMIM:107941, RefSeq DNA:NT_010718, RefSeq Protein:NP_004304, RefSeq Protein:NP_945355, RefSeq RNA:NM_004313, RefSeq RNA:NM_199004, UCSC Genome Browser:NM_004313, UniProtKB:P32121 No chr17 4613789 4624795 4710494 4721500 +PA134938267 92714 HGNC:28633 ENSG00000197070 arrestin domain containing 1 ARRDC1 alpha-arrestin 1 MGC40555 Yes No Ensembl:ENSG00000197070, GeneCard:ARRDC1, HGNC:HGNC:28633, ModBase:Q8N5I2, NCBI Gene:92714, RefSeq DNA:NT_024000, RefSeq Protein:NP_689498, RefSeq RNA:NM_152285, UniProtKB:Q8N5I2 No chr9 140500092 140509812 137605640 137615360 +PA134945141 27106 HGNC:25225 ENSG00000105643 arrestin domain containing 2 ARRDC2 CLONE24945, PP2703 Yes No Comparative Toxicogenomics Database:27106, Ensembl:ENSG00000105643, GeneCard:ARRDC2, HGNC:HGNC:25225, HumanCyc Gene:HS02778, ModBase:Q8TBH0, NCBI Gene:27106, RefSeq DNA:NT_011295, RefSeq Protein:NP_001020775, RefSeq Protein:NP_056498, RefSeq RNA:NM_001025604, RefSeq RNA:NM_015683, UniProtKB:Q8TBH0 No chr19 18111944 18124911 18001132 18014102 +PA134925765 57561 HGNC:29263 ENSG00000113369 arrestin domain containing 3 ARRDC3 TBP-2-like inducible membrane protein, alpha-arrestin 3 KIAA1376, TLIMP Yes No Comparative Toxicogenomics Database:57561, Ensembl:ENSG00000113369, GeneCard:ARRDC3, HGNC:HGNC:29263, ModBase:Q96B67, NCBI Gene:57561, OMIM:612464, RefSeq DNA:NT_006713, RefSeq Protein:NP_065852, RefSeq RNA:NM_020801, UniProtKB:Q96B67 No chr5 90664541 90679149 91368724 91383359 +PA134895338 91947 HGNC:28087 ENSG00000140450 arrestin domain containing 4 ARRDC4 FLJ36045 Yes No Comparative Toxicogenomics Database:91947, Ensembl:ENSG00000140450, GeneCard:ARRDC4, HGNC:HGNC:28087, ModBase:Q8NCT1, NCBI Gene:91947, RefSeq DNA:NT_010274, RefSeq Protein:NP_899232, RefSeq RNA:NM_183376, UniProtKB:A8K2F6, UniProtKB:Q8NCT1 No chr15 98503933 98517068 97960703 97973838 +PA134917663 645432 HGNC:31407 ENSG00000205784 arrestin domain containing 5 ARRDC5 Yes No Ensembl:ENSG00000205784, GeneCard:ARRDC5, HGNC:HGNC:31407, NCBI Gene:645432, RefSeq DNA:NT_011255, RefSeq Protein:NP_001073992, RefSeq RNA:NM_001080523 No chr19 4890449 4902879 4867614 4915469 +PA25005 410 HGNC:713 ENSG00000100299 arylsulfatase A ARSA metachromatic leucodystrophy ASA Yes Yes Comparative Toxicogenomics Database:410, Ensembl:ENSG00000100299, GenAtlas:ARSA, GeneCard:ARSA, HGNC:HGNC:713, HumanCyc Gene:HS02032, ModBase:P15289, NCBI Gene:410, OMIM:250100, OMIM:607574, RefSeq DNA:NG_009260, RefSeq DNA:NT_011526, RefSeq Protein:NP_000478, RefSeq Protein:NP_001078894, RefSeq Protein:NP_001078895, RefSeq Protein:NP_001078896, RefSeq Protein:NP_001078897, RefSeq RNA:NM_000487, RefSeq RNA:NM_001085425, RefSeq RNA:NM_001085426, RefSeq RNA:NM_001085427, RefSeq RNA:NM_001085428, UCSC Genome Browser:NM_000487, UniProtKB:P15289, UniProtKB:Q496J9 No chr22 51061182 51066601 50622754 50628173 +PA25006 411 HGNC:714 ENSG00000113273 arylsulfatase B ARSB ASB Yes No Comparative Toxicogenomics Database:411, Ensembl:ENSG00000113273, GenAtlas:ARSB, GeneCard:ARSB, HGNC:HGNC:714, HumanCyc Gene:HS03665, ModBase:P15848, NCBI Gene:411, OMIM:253200, OMIM:611542, RefSeq DNA:NG_007089, RefSeq DNA:NT_006713, RefSeq Protein:NP_000037, RefSeq Protein:NP_942002, RefSeq RNA:NM_000046, RefSeq RNA:NM_198709, UCSC Genome Browser:NM_000046, UniProtKB:A8K4A0, UniProtKB:P15848, UniProtKB:Q8N322 No chr5 78073032 78282357 78777209 78986534 +PA25007 413 HGNC:716 arylsulfatase C, isozyme F ARSC2 Yes No GenAtlas:ARSC2, GeneCard:ARSC2, HGNC:HGNC:716, NCBI Gene:413, OMIM:301780 No chrX +PA25008 414 HGNC:717 ENSG00000006756 arylsulfatase D ARSD ASD Yes No Ensembl:ENSG00000006756, GenAtlas:ARSD, GeneCard:ARSD, HGNC:HGNC:717, HumanCyc Gene:HS00195, ModBase:P51689, NCBI Gene:414, OMIM:300002, RefSeq DNA:NG_012495, RefSeq DNA:NT_167197, RefSeq Protein:NP_001660, RefSeq Protein:NP_033667, RefSeq RNA:NM_001669, RefSeq RNA:NM_009589, UCSC Genome Browser:NM_001669, UniProtKB:P51689 No chrX 2822011 2847416 2903970 2929375 +PA25009 10034 HGNC:718 ENSG00000225117 arylsulfatase D pseudogene 1 ARSDP1 arylsulfatase D, Y-linked, pseudogene 1 ARSDY1 Yes No Ensembl:ENSG00000225117, GenAtlas:ARSDP, GeneCard:ARSDP1, HGNC:HGNC:718, NCBI Gene:10034, RefSeq DNA:NG_000881, RefSeq DNA:NT_011875 No chrY 14474762 14499204 12354003 12379774 +PA25012 416 HGNC:721 ENSG00000062096 arylsulfatase F ARSF ASF Yes No Ensembl:ENSG00000062096, GenAtlas:ARSF, GeneCard:ARSF, HGNC:HGNC:721, HumanCyc Gene:HS00765, ModBase:P54793, NCBI Gene:416, OMIM:300003, RefSeq DNA:NG_012822, RefSeq DNA:NT_167197, RefSeq Protein:NP_001188467, RefSeq Protein:NP_001188468, RefSeq Protein:NP_004033, RefSeq RNA:NM_001201538, RefSeq RNA:NM_001201539, RefSeq RNA:NM_004042, UCSC Genome Browser:NM_004042, UniProtKB:P54793 No chrX 2958275 3030770 3040234 3112729 +PA25013 23757 HGNC:722 ENSG00000232226 arylsulfatase F pseudogene 1 ARSFP1 Yes No Ensembl:ENSG00000232226, GenAtlas:ARSFP, GeneCard:ARSFP1, HGNC:HGNC:722, NCBI Gene:23757, RefSeq DNA:NG_002804, RefSeq DNA:NT_011875 No chrY 14373004 14378739 12252300 12258035 +PA143485307 22901 HGNC:24102 ENSG00000141337 arylsulfatase G ARSG KIAA1001 Yes No Ensembl:ENSG00000141337, GeneCard:ARSG, HGNC:HGNC:24102, HumanCyc Gene:HS06814, ModBase:Q96EG1, NCBI Gene:22901, OMIM:610008, RefSeq DNA:NT_010783, RefSeq Protein:NP_055775, RefSeq RNA:NM_014960, UniProtKB:Q96EG1 No chr17 66255323 66425516 68259089 68452000 +PA143485308 347527 HGNC:32488 ENSG00000205667 arylsulfatase family member H ARSH arylsulfatase family, member H Yes No Ensembl:ENSG00000205667, GeneCard:ARSH, HGNC:HGNC:32488, ModBase:Q5FYA8, NCBI Gene:347527, OMIM:300586, RefSeq DNA:NT_167197, RefSeq Protein:NP_001011719, RefSeq RNA:NM_001011719, UniProtKB:Q5FYA8 No chrX 2924654 2951426 3006613 3033385 +PA143485309 340075 HGNC:32521 ENSG00000183876 arylsulfatase family member I ARSI arylsulfatase family, member I FLJ16069, SPG66 Yes No Comparative Toxicogenomics Database:340075, Ensembl:ENSG00000183876, GeneCard:ARSI, HGNC:HGNC:32521, ModBase:Q5FYB1, NCBI Gene:340075, OMIM:610009, RefSeq DNA:NT_029289, RefSeq Protein:NP_001012301, RefSeq RNA:NM_001012301, UniProtKB:Q5FYB1 No chr5 149675909 149682525 150296346 150302962 +PA143485310 79642 HGNC:26286 ENSG00000180801 arylsulfatase family member J ARSJ arylsulfatase family, member J FLJ23548 Yes No Ensembl:ENSG00000180801, GeneCard:ARSJ, HGNC:HGNC:26286, HumanCyc Gene:HS17567, ModBase:Q5FYB0, NCBI Gene:79642, OMIM:610010, RefSeq DNA:NT_016354, RefSeq Protein:NP_078866, RefSeq RNA:NM_024590, UniProtKB:Q5FYB0 No chr4 114821432 114901281 113899929 113980125 +PA143485311 153642 HGNC:25239 ENSG00000164291 arylsulfatase family member K ARSK arylsulfatase family, member K DKFZp313G1735, TSULF Yes No Comparative Toxicogenomics Database:153642, Ensembl:ENSG00000164291, GeneCard:ARSK, HGNC:HGNC:25239, ModBase:Q6UWY0, NCBI Gene:153642, OMIM:610011, RefSeq DNA:NT_034772, RefSeq Protein:NP_937793, RefSeq RNA:NM_198150, UniProtKB:Q6UWY0 No chr5 94890825 94940806 95555108 95605102 +PA25010 415 HGNC:719 arylsulfatase L ARSL arylsulfatase E, arylsulfatase E (chondrodysplasia punctata 1), chondrodysplasia punctata 1 ARSE, CDPX, CDPX1 Yes No Comparative Toxicogenomics Database:415, GenAtlas:ARSE, GeneCard:ARSE, HGNC:HGNC:719, HumanCyc Gene:HS08210, ModBase:P51690, NCBI Gene:415, OMIM:300180, OMIM:302950, RefSeq DNA:NG_007091, RefSeq DNA:NT_167197, RefSeq Protein:NP_000038, RefSeq RNA:NM_000047, UCSC Genome Browser:NM_000047, UniProtKB:P51690 No chrX 2852673 2886345 2934632 2968310 +PA25014 417 HGNC:723 ENSG00000129744 ADP-ribosyltransferase 1 ART1 ART2, ARTC1, CD296 Yes No Comparative Toxicogenomics Database:417, Ensembl:ENSG00000129744, GenAtlas:ART1, GeneCard:ART1, HGNC:HGNC:723, HumanCyc Gene:HS05308, ModBase:P52961, NCBI Gene:417, OMIM:601625, RefSeq DNA:NT_009237, RefSeq Protein:NP_004305, RefSeq RNA:NM_004314, UCSC Genome Browser:NM_004314, UniProtKB:P52961 No chr11 3663487 3685844 3645110 3665595 +PA25015 418 HGNC:724 ENSG00000238048 ADP-ribosyltransferase 2 (RT6 antigen homolog, rat), pseudogene ART2P ART1P Yes No Ensembl:ENSG00000238048, GenAtlas:ART2P, GeneCard:ART2P, HGNC:HGNC:724, NCBI Gene:418, RefSeq DNA:NG_001076, RefSeq DNA:NT_167190 No chr11 72231995 72232684 72520951 72521640 +PA25016 419 HGNC:725 ENSG00000156219 ADP-ribosyltransferase 3 (inactive) ART3 ADP-ribosyltransferase 3 ARTC3 Yes No Comparative Toxicogenomics Database:419, Ensembl:ENSG00000156219, GenAtlas:ART3, GeneCard:ART3, HGNC:HGNC:725, HumanCyc Gene:HS08104, ModBase:Q13508, NCBI Gene:419, OMIM:603086, RefSeq DNA:NT_016354, RefSeq Protein:NP_001123488, RefSeq Protein:NP_001123489, RefSeq Protein:NP_001170, RefSeq RNA:NM_001130016, RefSeq RNA:NM_001130017, RefSeq RNA:NM_001179, UCSC Genome Browser:NM_001179, UniProtKB:Q13508 No chr4 76932333 77033955 76011180 76112802 +PA142672580 420 HGNC:726 ENSG00000111339 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) ART4 ADP-ribosyltransferase 4 (Dombrock blood group), Ecto-ADP-ribosyltransferase 4, NAD(+)--protein-arginine ADP-ribosyltransferase 4 ARTC4, CD297, DO, DOK1 Yes No Comparative Toxicogenomics Database:420, Ensembl:ENSG00000111339, GeneCard:ART4, HGNC:HGNC:726, HumanCyc Gene:HS03406, ModBase:Q93070, NCBI Gene:420, OMIM:110600, RefSeq DNA:NG_007477, RefSeq DNA:NT_009714, RefSeq Protein:NP_066549, RefSeq RNA:NM_021071, UniProtKB:Q93070 No chr12 14982245 14996413 14829311 14843479 +PA134887713 116969 HGNC:24049 ENSG00000167311 ADP-ribosyltransferase 5 ART5 ARTC5 Yes No Comparative Toxicogenomics Database:116969, Ensembl:ENSG00000167311, GeneCard:ART5, HGNC:HGNC:24049, HumanCyc Gene:HS09538, ModBase:Q96L15, NCBI Gene:116969, OMIM:610625, RefSeq DNA:NT_009237, RefSeq Protein:NP_001073004, RefSeq Protein:NP_443750, RefSeq RNA:NM_001079536, RefSeq RNA:NM_053017, UniProtKB:Q96L15 No chr11 3659733 3663546 3638503 3642392 +PA25017 9048 HGNC:727 ENSG00000117407 artemin ARTN neublastin, neurotrophic factor ENOVIN, EVN, NBN Yes No Comparative Toxicogenomics Database:9048, Ensembl:ENSG00000117407, GenAtlas:ARTN, GeneCard:ARTN, HGNC:HGNC:727, HumanCyc Gene:HS04127, ModBase:Q5T4W7, NCBI Gene:9048, OMIM:603886, RefSeq DNA:NT_032977, RefSeq Protein:NP_001129687, RefSeq Protein:NP_003967, RefSeq Protein:NP_476431, RefSeq Protein:NP_476432, RefSeq Protein:NP_476501, RefSeq RNA:NM_001136215, RefSeq RNA:NM_003976, RefSeq RNA:NM_057090, RefSeq RNA:NM_057091, RefSeq RNA:NM_057160, UCSC Genome Browser:NM_003976, UniProtKB:Q5T4W7 No chr1 44398992 44402912 43933320 43937240 +PA134935092 64801 HGNC:29561 ENSG00000173409 ARV1 homolog, fatty acid homeostasis modulator ARV1 ARV1 homolog (S. cerevisiae) Yes No Comparative Toxicogenomics Database:64801, Ensembl:ENSG00000173409, GeneCard:ARV1, HGNC:HGNC:29561, HumanCyc Gene:HS16206, ModBase:Q9UFF5, NCBI Gene:64801, OMIM:611647, RefSeq DNA:NT_167186, RefSeq Protein:NP_073623, RefSeq RNA:NM_022786, UniProtKB:Q9H2C2 No chr1 231114823 231136479 230979075 231000733 +PA25018 421 HGNC:728 ENSG00000099889 ARVCF delta catenin family member ARVCF """ARVCF, delta catenin family member"", ""armadillo repeat gene deleted in velocardiofacial syndrome""" Yes Yes Comparative Toxicogenomics Database:421, Ensembl:ENSG00000099889, GenAtlas:ARVCF, GeneCard:ARVCF, HGNC:HGNC:728, HumanCyc Gene:HS01926, ModBase:O00192, NCBI Gene:421, OMIM:602269, RefSeq DNA:NG_023326, RefSeq DNA:NT_011519, RefSeq Protein:NP_001661, RefSeq RNA:NM_001670, UCSC Genome Browser:NM_001670, UniProtKB:O00192 No chr22 19954126 20004325 19966491 20016802 +PA25024 170302 HGNC:18060 ENSG00000004848 aristaless related homeobox ARX cancer/testis antigen 121 CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS Yes No Comparative Toxicogenomics Database:170302, Ensembl:ENSG00000004848, GenAtlas:ARX, GeneCard:ARX, HGNC:HGNC:18060, ModBase:Q96QS3, NCBI Gene:170302, OMIM:300004, OMIM:300215, OMIM:300382, OMIM:300419, OMIM:300432, OMIM:308350, OMIM:309510, RefSeq DNA:NG_008281, RefSeq DNA:NT_167197, RefSeq Protein:NP_620689, RefSeq RNA:NM_139058, UCSC Genome Browser:NM_139058, UniProtKB:Q96QS3 No chrX 25021811 25034065 25003694 25015948 +PA134896392 57412 HGNC:17452 ENSG00000214435 arsenite methyltransferase AS3MT arsenic (+3 oxidation state) methyltransferase CYT19 Yes Yes Comparative Toxicogenomics Database:57412, Ensembl:ENSG00000214435, GeneCard:AS3MT, HGNC:HGNC:17452, HumanCyc Gene:HS01822, ModBase:Q9HBK9, NCBI Gene:57412, OMIM:611806, RefSeq DNA:NT_030059, RefSeq Protein:NP_065733, RefSeq RNA:NM_020682, UniProtKB:Q9HBK9 No chr10 104629183 104661656 102869453 102901899 +PA35025 427 HGNC:735 ENSG00000104763 N-acylsphingosine amidohydrolase 1 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1, acid ceramidase, acylsphingosine deacylase AC, ACDase, ASAH, FLJ21558, PHP32 Yes No Comparative Toxicogenomics Database:427, Ensembl:ENSG00000104763, GenAtlas:ASAH1, GeneCard:ASAH1, HGNC:HGNC:735, HumanCyc Gene:HS02614, ModBase:Q13510, NCBI Gene:427, OMIM:228000, OMIM:613468, RefSeq DNA:NG_008985, RefSeq DNA:NT_167187, RefSeq Protein:NP_001120977, RefSeq Protein:NP_004306, RefSeq Protein:NP_808592, RefSeq RNA:NM_001127505, RefSeq RNA:NM_004315, RefSeq RNA:NM_177924, UCSC Genome Browser:NM_004315, UniProtKB:A8K0B6, UniProtKB:Q13510, UniProtKB:Q53H01, UniProtKB:Q96AS2 No chr8 17913925 17942507 18056299 18084998 +PA38720 56624 HGNC:18860 ENSG00000188611 N-acylsphingosine amidohydrolase 2 ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2, neutral ceramidase, non-lysosomal ceramidase Yes No Comparative Toxicogenomics Database:56624, Ensembl:ENSG00000188611, GenAtlas:ASAH2, GeneCard:ASAH2, HGNC:HGNC:18860, HumanCyc Gene:HS01068, NCBI Gene:56624, OMIM:611202, RefSeq DNA:NT_030059, RefSeq Protein:NP_001137446, RefSeq Protein:NP_063946, RefSeq RNA:NM_001143974, RefSeq RNA:NM_019893, UCSC Genome Browser:NM_019893 No chr10 51947000 52008370 50184861 50251564 +PA134977109 653308 HGNC:23456 ENSG00000204147 N-acylsphingosine amidohydrolase 2B ASAH2B N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B ASAH2C, ASAH2L, bA449O16.3, bA98I6.3 Yes No Ensembl:ENSG00000204147, GeneCard:ASAH2B, HGNC:HGNC:23456, NCBI Gene:653308, OMIM:610987, RefSeq DNA:NT_030059, RefSeq Protein:NP_001072984, RefSeq RNA:NM_001079516, UniProtKB:P0C7U1, UniProtKB:Q9NR71 No chr10 52499688 52516948 50739688 50757188 +PA164716055 50807 HGNC:2720 ENSG00000153317 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ASAP1 centaurin, beta 4 CENTB4, DDEF1, KIAA1249, PAP, ZG14P Yes No Ensembl:ENSG00000153317, GeneCard:ASAP1, HGNC:HGNC:2720, HumanCyc Gene:HS07904, ModBase:Q9ULH1, NCBI Gene:50807, OMIM:605953, RefSeq DNA:NT_008046, RefSeq Protein:NP_060952, RefSeq RNA:NM_018482, UniProtKB:B2RNV3, UniProtKB:Q9ULH1 No chr8 131064350 131455906 130052104 130443848 +PA165585422 29065 HGNC:24998 ASAP1 intronic transcript 1 (non-protein coding) ASAP1-IT1 """ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 intronic transcript 1 (non-protein coding)"", ""non-protein coding RNA 50""" ASAP1-IT, ASAP1IT, HSPC054, NCRNA00050 Yes No GeneCard:ASAP1IT1, HGNC:HGNC:24998, NCBI Gene:29065, RefSeq DNA:NT_008046, RefSeq RNA:NR_002765 No chr8 131307601 131308779 130295355 130296533 +PA164716118 8853 HGNC:2721 ENSG00000151693 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 ASAP2 centaurin, beta 3 CENTB3, DDEF2, KIAA0400, PAP, SHAG1 Yes No Ensembl:ENSG00000151693, GeneCard:ASAP2, HGNC:HGNC:2721, HumanCyc Gene:HS07762, ModBase:O43150, NCBI Gene:8853, OMIM:603817, RefSeq DNA:NT_005334, RefSeq Protein:NP_001128663, RefSeq Protein:NP_003878, RefSeq RNA:NM_001135191, RefSeq RNA:NM_003887, UniProtKB:O43150 No chr2 9346894 9545812 9206765 9405683 +PA164716179 55616 HGNC:14987 ENSG00000088280 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 ASAP3 centaurin, beta 6 CENTB6, DDEFL1, FLJ20199, UPLC1 Yes No Ensembl:ENSG00000088280, GeneCard:ASAP3, HGNC:HGNC:14987, HumanCyc Gene:HS01595, ModBase:Q8TDY4, NCBI Gene:55616, RefSeq DNA:NT_004610, RefSeq Protein:NP_001137250, RefSeq Protein:NP_060177, RefSeq RNA:NM_001143778, RefSeq RNA:NM_017707, UniProtKB:B4DHH4, UniProtKB:Q8TDY4 No chr1 23755056 23810750 23428563 23484631 +PA25027 51665 HGNC:16011 ENSG00000065802 ankyrin repeat and SOCS box containing 1 ASB1 ASB-1 Yes No Comparative Toxicogenomics Database:51665, Ensembl:ENSG00000065802, GenAtlas:ASB1, GeneCard:ASB1, HGNC:HGNC:16011, HumanCyc Gene:HS00855, ModBase:Q9Y576, NCBI Gene:51665, OMIM:605758, RefSeq DNA:NT_005120, RefSeq Protein:NP_001035535, RefSeq RNA:NM_001040445, UCSC Genome Browser:NM_016114, UniProtKB:Q9Y576 No chr2 239335382 239360891 238426741 238452250 +PA25028 136371 HGNC:17185 ENSG00000146926 ankyrin repeat and SOCS box containing 10 ASB10 GLC1F Yes No Ensembl:ENSG00000146926, GenAtlas:ASB10, GeneCard:ASB10, HGNC:HGNC:17185, HumanCyc Gene:HS07380, ModBase:Q8WXI3, NCBI Gene:136371, RefSeq DNA:NG_017016, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001135931, RefSeq Protein:NP_001135932, RefSeq Protein:NP_543147, RefSeq RNA:NM_001142459, RefSeq RNA:NM_001142460, RefSeq RNA:NM_080871, UCSC Genome Browser:NM_080871, UniProtKB:Q8WXI3 No chr7 150872785 150884919 151175698 151187832 +PA25029 140456 HGNC:17186 ENSG00000165192 ankyrin repeat and SOCS box containing 11 ASB11 """ankyrin repeat and SOCS box containing 11"", ""ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase""" DKFZp779E2460 Yes No Ensembl:ENSG00000165192, GenAtlas:ASB11, GeneCard:ASB11, HGNC:HGNC:17186, HumanCyc Gene:HS09196, ModBase:Q8WXH4, NCBI Gene:140456, OMIM:300626, RefSeq DNA:NG_012627, RefSeq DNA:NT_167197, RefSeq Protein:NP_001012428, RefSeq Protein:NP_001188512, RefSeq Protein:NP_543149, RefSeq RNA:NM_001012428, RefSeq RNA:NM_001201583, RefSeq RNA:NM_080873, UCSC Genome Browser:NM_080873, UniProtKB:Q7Z670, UniProtKB:Q8WXH4 No chrX 15293800 15333788 15281697 15315624 +PA134937084 142689 HGNC:19763 ENSG00000198881 ankyrin repeat and SOCS box containing 12 ASB12 FLJ39577 Yes No Ensembl:ENSG00000198881, GeneCard:ASB12, HGNC:HGNC:19763, ModBase:Q8WXK4, NCBI Gene:142689, RefSeq DNA:NG_012823, RefSeq DNA:NT_011669, RefSeq Protein:NP_569059, RefSeq RNA:NM_130388, UniProtKB:Q8N8F5, UniProtKB:Q8WXK4 No chrX 63444072 63450511 64224192 64230631 +PA134992129 79754 HGNC:19765 ENSG00000196372 ankyrin repeat and SOCS box containing 13 ASB13 FLJ13134, MGC19879 Yes No Comparative Toxicogenomics Database:79754, Ensembl:ENSG00000196372, GeneCard:ASB13, HGNC:HGNC:19765, ModBase:Q8WXK3, NCBI Gene:79754, RefSeq DNA:NT_008705, RefSeq Protein:NP_078977, RefSeq RNA:NM_024701, RefSeq RNA:NR_024581, RefSeq RNA:NR_037164, UniProtKB:Q8WXK3 No chr10 5680820 5708558 5638857 5666595 +PA134983884 142686 HGNC:19766 ENSG00000239388 ankyrin repeat and SOCS box containing 14 ASB14 DKFZp313L0121 Yes No Ensembl:ENSG00000239388, GeneCard:ASB14, HGNC:HGNC:19766, NCBI Gene:142686, RefSeq DNA:NT_022517, RefSeq Protein:NP_001136205, RefSeq Protein:NP_569058, RefSeq RNA:NM_001142733, RefSeq RNA:NM_130387, UniProtKB:A6NK59, UniProtKB:C9JX97 No chr3 57302379 57326753 57268351 57293047 +PA134977130 142685 HGNC:19767 ENSG00000146809 ankyrin repeat and SOCS box containing 15 ASB15 FLJ43370 Yes No Ensembl:ENSG00000146809, GeneCard:ASB15, HGNC:HGNC:19767, HumanCyc Gene:HS07371, ModBase:Q8WXK1, NCBI Gene:142685, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_563616, RefSeq RNA:NM_080928, UniProtKB:Q8WXK1 No chr7 123241882 123277951 123567003 123637900 +PA134879678 92591 HGNC:19768 ENSG00000161664 ankyrin repeat and SOCS box containing 16 ASB16 FLJ30165 Yes No Ensembl:ENSG00000161664, GeneCard:ASB16, HGNC:HGNC:19768, HumanCyc Gene:HS08606, ModBase:Q96NS5, NCBI Gene:92591, RefSeq DNA:NT_010783, RefSeq Protein:NP_543139, RefSeq RNA:NM_080863, UniProtKB:Q96NS5 No chr17 42248074 42256650 44170706 44179083 +PA142672248 339201 HGNC:25442 ENSG00000267080 ASB16 antisense RNA 1 ASB16-AS1 DKFZp762C2414 Yes No Ensembl:ENSG00000267080, GeneCard:C17orf65, HGNC:HGNC:25442, ModBase:Q495Z4, NCBI Gene:339201, RefSeq DNA:NT_010783, RefSeq Protein:NP_848637, RefSeq RNA:NM_178542, UniProtKB:Q495Z4 No chr17 42253341 42264085 44175973 44186717 +PA134958560 127247 HGNC:19769 ENSG00000154007 ankyrin repeat and SOCS box containing 17 ASB17 Yes No Ensembl:ENSG00000154007, GeneCard:ASB17, HGNC:HGNC:19769, HumanCyc Gene:HS14500, ModBase:Q8WXJ9, NCBI Gene:127247, RefSeq DNA:NT_032977, RefSeq Protein:NP_543144, RefSeq RNA:NM_080868, RefSeq RNA:NR_026546, UniProtKB:Q8WXJ9 No chr1 76384558 76398116 75918873 75937625 +PA134950797 401036 HGNC:19770 ENSG00000182177 ankyrin repeat and SOCS box containing 18 ASB18 Yes No Ensembl:ENSG00000182177, GeneCard:ASB18, HGNC:HGNC:19770, ModBase:Q6ZVZ8, NCBI Gene:401036, RefSeq DNA:NT_005120, RefSeq Protein:NP_997721, RefSeq RNA:NM_212556, UniProtKB:Q6ZVZ8 No chr2 237103515 237172988 236194872 236264345 +PA25030 51676 HGNC:16012 ENSG00000100628 ankyrin repeat and SOCS box containing 2 ASB2 ASB-2 Yes No Comparative Toxicogenomics Database:51676, Ensembl:ENSG00000100628, GenAtlas:ASB2, GeneCard:ASB2, HGNC:HGNC:16012, HumanCyc Gene:HS02127, ModBase:Q96Q27, NCBI Gene:51676, OMIM:605759, RefSeq DNA:NT_026437, RefSeq Protein:NP_001189358, RefSeq Protein:NP_057234, RefSeq RNA:NM_001202429, RefSeq RNA:NM_016150, UCSC Genome Browser:NM_016150, UniProtKB:Q96Q27 No chr14 94400499 94443085 93934153 93976796 +PA25031 51130 HGNC:16013 ENSG00000115239 ankyrin repeat and SOCS box containing 3 ASB3 ASB-3 Yes No Ensembl:ENSG00000115239, GenAtlas:ASB3, GeneCard:ASB3, HGNC:HGNC:16013, HumanCyc Gene:HS03854, ModBase:Q9Y575, NCBI Gene:51130, OMIM:605760, RefSeq DNA:NT_022184, RefSeq Protein:NP_001188894, RefSeq Protein:NP_057199, RefSeq Protein:NP_665862, RefSeq RNA:NM_001201965, RefSeq RNA:NM_016115, RefSeq RNA:NM_145863, UCSC Genome Browser:NM_016115, UniProtKB:Q9Y575 No chr2 53897117 54014146 53669980 53787009 +PA25032 51666 HGNC:16009 ENSG00000005981 ankyrin repeat and SOCS box containing 4 ASB4 ASB-4 Yes No Comparative Toxicogenomics Database:51666, Ensembl:ENSG00000005981, GenAtlas:ASB4, GeneCard:ASB4, HGNC:HGNC:16009, HumanCyc Gene:HS00156, ModBase:Q9Y574, NCBI Gene:51666, OMIM:605761, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_057200, RefSeq Protein:NP_665879, RefSeq RNA:NM_016116, RefSeq RNA:NM_145872, UCSC Genome Browser:NM_016116, UniProtKB:Q14D68, UniProtKB:Q8TBT2, UniProtKB:Q9Y574 No chr7 95115213 95169543 95485439 95544738 +PA25033 140458 HGNC:17180 ENSG00000164122 ankyrin repeat and SOCS box containing 5 ASB5 Yes No Ensembl:ENSG00000164122, GenAtlas:ASB5, GeneCard:ASB5, HGNC:HGNC:17180, HumanCyc Gene:HS09022, ModBase:Q8WWX0, NCBI Gene:140458, RefSeq DNA:NT_016354, RefSeq Protein:NP_543150, RefSeq RNA:NM_080874, UCSC Genome Browser:NM_080874, UniProtKB:Q5HYF3, UniProtKB:Q8WWX0 No chr4 177134824 177198722 176213673 176277571 +PA25034 140459 HGNC:17181 ENSG00000148331 ankyrin repeat and SOCS box containing 6 ASB6 Yes No Comparative Toxicogenomics Database:140459, Ensembl:ENSG00000148331, GenAtlas:ASB6, GeneCard:ASB6, HGNC:HGNC:17181, HumanCyc Gene:HS07513, ModBase:Q9NWX5, NCBI Gene:140459, RefSeq DNA:NT_008470, RefSeq Protein:NP_001189332, RefSeq Protein:NP_060343, RefSeq Protein:NP_821066, RefSeq RNA:NM_001202403, RefSeq RNA:NM_017873, RefSeq RNA:NM_177999, UCSC Genome Browser:NM_017873, UniProtKB:Q9BV15, UniProtKB:Q9NWX5 No chr9 132396883 132404496 129634604 129642169 +PA25035 140460 HGNC:17182 ENSG00000183475 ankyrin repeat and SOCS box containing 7 ASB7 Yes No Ensembl:ENSG00000183475, GenAtlas:ASB7, GeneCard:ASB7, HGNC:HGNC:17182, ModBase:Q9H672, NCBI Gene:140460, RefSeq DNA:NT_010274, RefSeq Protein:NP_078984, RefSeq Protein:NP_937886, RefSeq RNA:NM_024708, RefSeq RNA:NM_198243, UCSC Genome Browser:NM_024708, UniProtKB:Q9H672 No chr15 101142755 101191906 100602550 100651701 +PA25036 140461 HGNC:17183 ENSG00000177981 ankyrin repeat and SOCS box containing 8 ASB8 FLJ21255, MGC5540 Yes No Comparative Toxicogenomics Database:140461, Ensembl:ENSG00000177981, GenAtlas:ASB8, GeneCard:ASB8, HGNC:HGNC:17183, HumanCyc Gene:HS11236, ModBase:Q9H765, NCBI Gene:140461, RefSeq DNA:NT_029419, RefSeq Protein:NP_077000, RefSeq RNA:NM_024095, UCSC Genome Browser:NM_024095, UniProtKB:Q9H765 No chr12 48541572 48551377 48147788 48157595 +PA25037 140462 HGNC:17184 ENSG00000102048 ankyrin repeat and SOCS box containing 9 ASB9 DKFZP564L0862, FLJ20636, MGC4954 Yes No Comparative Toxicogenomics Database:140462, Ensembl:ENSG00000102048, GenAtlas:ASB9, GeneCard:ASB9, HGNC:HGNC:17184, HumanCyc Gene:HS02341, ModBase:Q96DX5, NCBI Gene:140462, RefSeq DNA:NG_016218, RefSeq DNA:NT_167197, RefSeq Protein:NP_001026909, RefSeq Protein:NP_001162002, RefSeq Protein:NP_001162003, RefSeq Protein:NP_076992, RefSeq RNA:NM_001031739, RefSeq RNA:NM_001168530, RefSeq RNA:NM_001168531, RefSeq RNA:NM_024087, UCSC Genome Browser:NM_024087, UniProtKB:Q96DX5, UniProtKB:Q9BVF5 No chrX 15262109 15288589 15243987 15270476 +PA134974899 51008 HGNC:24268 ENSG00000138303 activating signal cointegrator 1 complex subunit 1 ASCC1 ASC1p50, CGI-18, Em:AC022392.3, p50 Yes No Ensembl:ENSG00000138303, GeneCard:ASCC1, HGNC:HGNC:24268, HumanCyc Gene:HS06482, ModBase:Q8N9N2, NCBI Gene:51008, RefSeq DNA:NT_030059, RefSeq Protein:NP_001185727, RefSeq Protein:NP_001185728, RefSeq Protein:NP_001185729, RefSeq Protein:NP_057031, RefSeq RNA:NM_001198798, RefSeq RNA:NM_001198799, RefSeq RNA:NM_001198800, RefSeq RNA:NM_015947, UniProtKB:Q8N9N2 No chr10 73855790 73976892 72096032 72217134 +PA134916940 84164 HGNC:24103 ENSG00000100325 activating signal cointegrator 1 complex subunit 2 ASCC2 ASC 1 complex subunit P100 ASC1p100, DKFZp586O0223, FLJ21588 Yes No Comparative Toxicogenomics Database:84164, Ensembl:ENSG00000100325, GeneCard:ASCC2, HGNC:HGNC:24103, HumanCyc Gene:HS12401, ModBase:Q9H1I8, NCBI Gene:84164, RefSeq DNA:NT_011520, RefSeq Protein:NP_001229835, RefSeq Protein:NP_115580, RefSeq RNA:NM_001242906, RefSeq RNA:NM_032204, UniProtKB:Q9H1I8 No chr22 30184597 30234293 29788608 29838304 +PA134890913 10973 HGNC:18697 ENSG00000112249 activating signal cointegrator 1 complex subunit 3 ASCC3 RNA helicase family ASC1p200, HELIC1, RNAH, dJ121G13.4, dJ467N11.1 Yes No Comparative Toxicogenomics Database:10973, Ensembl:ENSG00000112249, GeneCard:ASCC3, HGNC:HGNC:18697, ModBase:Q8N3C0, NCBI Gene:10973, RefSeq DNA:NT_025741, RefSeq Protein:NP_006819, RefSeq Protein:NP_071374, RefSeq RNA:NM_006828, RefSeq RNA:NM_022091, UniProtKB:Q4G1A0, UniProtKB:Q8N3C0, UniProtKB:Q9H5A2 No chr6 100956325 101329243 100508194 100881372 +PA26416 429 HGNC:738 ENSG00000139352 achaete-scute family bHLH transcription factor 1 ASCL1 achaete-scute complex homolog 1 (Drosophila) ASH1, HASH1, bHLHa46 Yes No Comparative Toxicogenomics Database:429, Ensembl:ENSG00000139352, GenAtlas:ASCL1, GenAtlas:CEPA, GeneCard:ASCL1, GeneCard:CEPA, HGNC:HGNC:738, HumanCyc Gene:HS06612, ModBase:P50553, NCBI Gene:429, OMIM:100790, OMIM:209880, RefSeq DNA:NG_008950, RefSeq DNA:NT_029419, RefSeq Protein:NP_004307, RefSeq RNA:NM_004316, UCSC Genome Browser:NM_004316, UniProtKB:P50553 No chr12 103351452 103354294 102957674 102960516 +PA25039 430 HGNC:739 ENSG00000183734 achaete-scute family bHLH transcription factor 2 ASCL2 achaete-scute complex homolog 2 (Drosophila) ASH2, HASH2, bHLHa45 Yes No Comparative Toxicogenomics Database:430, Ensembl:ENSG00000183734, GenAtlas:ASCL2, GeneCard:ASCL2, HGNC:HGNC:739, ModBase:Q99929, NCBI Gene:430, OMIM:601886, RefSeq DNA:NT_009237, RefSeq Protein:NP_005161, RefSeq RNA:NM_005170, UCSC Genome Browser:NM_005170, UniProtKB:Q99929 No chr11 2289728 2292182 2268498 2270952 +PA25040 56676 HGNC:740 ENSG00000176009 achaete-scute family bHLH transcription factor 3 ASCL3 achaete-scute complex homolog 3 (Drosophila) HASH3, Sgn1, bHLHa42 Yes No Ensembl:ENSG00000176009, GenAtlas:ASCL3, GeneCard:ASCL3, HGNC:HGNC:740, HumanCyc Gene:HS10989, ModBase:Q9NQ33, NCBI Gene:56676, OMIM:609154, RefSeq DNA:NT_009237, RefSeq Protein:NP_065697, RefSeq RNA:NM_020646, UCSC Genome Browser:NM_020646, UniProtKB:Q9NQ33 No chr11 8959119 8964580 8937572 8943033 +PA134869300 121549 HGNC:24311 ENSG00000187855 achaete-scute family bHLH transcription factor 4 ASCL4 achaete-scute complex homolog 4 (Drosophila) HASH4, bHLHa44 Yes No Ensembl:ENSG00000187855, GeneCard:ASCL4, HGNC:HGNC:24311, ModBase:Q6XD76, NCBI Gene:121549, OMIM:609155, RefSeq DNA:NT_029419, RefSeq Protein:NP_982260, RefSeq RNA:NM_203436, UniProtKB:Q6XD76 No chr12 108168162 108170421 107774385 107776644 +PA162376905 647219 HGNC:33169 ENSG00000232237 achaete-scute family bHLH transcription factor 5 ASCL5 achaete-scute complex homolog 5 (Drosophila) ASH-5, AmeloD, bHLHa47 Yes No Ensembl:ENSG00000232237, GeneCard:ASCL5, HGNC:HGNC:33169, NCBI Gene:647219, RefSeq DNA:NT_004487, RefSeq Protein:XP_001718279, RefSeq Protein:XP_001719373, RefSeq Protein:XP_946059, RefSeq RNA:XM_001718227, RefSeq RNA:XM_001719321, RefSeq RNA:XM_940966 No chr1 201083081 201084500 201113953 201115372 +PA166180562 110599588 HGNC:53619 ENSG00000286053 ASNSD1 upstream open reading frame ASDURF ASNSD1 upstream reading frame Yes No Ensembl:ENSG00000286053, HGNC:HGNC:53619, NCBI Gene:110599588 No 0 0 0 0 +PA128394636 25842 HGNC:20995 ENSG00000111875 anti-silencing function 1A histone chaperone ASF1A CIA, DKFZP547E2110 Yes No Comparative Toxicogenomics Database:25842, Ensembl:ENSG00000111875, GeneCard:ASF1A, HGNC:HGNC:20995, HumanCyc Gene:HS03477, ModBase:Q9Y294, NCBI Gene:25842, OMIM:609189, RefSeq DNA:NT_025741, RefSeq Protein:NP_054753, RefSeq RNA:NM_014034, UCSC Genome Browser:NM_014034, UniProtKB:Q9Y294 No chr6 119215241 119230336 118894077 118909171 +PA134931112 55723 HGNC:20996 ENSG00000105011 anti-silencing function 1B histone chaperone ASF1B FLJ10604 Yes No Comparative Toxicogenomics Database:55723, Ensembl:ENSG00000105011, GeneCard:ASF1B, HGNC:HGNC:20996, HumanCyc Gene:HS12570, ModBase:Q9NVP2, NCBI Gene:55723, OMIM:609190, RefSeq DNA:NT_011295, RefSeq Protein:NP_060624, RefSeq RNA:NM_018154, UniProtKB:Q9NVP2 No chr19 14230321 14247440 14119509 14136628 +PA25042 432 HGNC:742 ENSG00000141505 asialoglycoprotein receptor 1 ASGR1 CLEC4H1 Yes No Comparative Toxicogenomics Database:432, Ensembl:ENSG00000141505, GenAtlas:ASGR1, GeneCard:ASGR1, HGNC:HGNC:742, HumanCyc Gene:HS06838, ModBase:P07306, NCBI Gene:432, OMIM:108360, RefSeq DNA:NT_010718, RefSeq Protein:NP_001184145, RefSeq Protein:NP_001662, RefSeq RNA:NM_001197216, RefSeq RNA:NM_001671, UCSC Genome Browser:NM_001671, UniProtKB:P07306, UniProtKB:Q6FGQ5 No chr17 7076750 7082883 7173431 7179564 +PA25043 433 HGNC:743 ENSG00000161944 asialoglycoprotein receptor 2 ASGR2 CLEC4H2 Yes No Comparative Toxicogenomics Database:433, Ensembl:ENSG00000161944, GenAtlas:ASGR2, GeneCard:ASGR2, HGNC:HGNC:743, HumanCyc Gene:HS08625, NCBI Gene:433, OMIM:108361, RefSeq DNA:NT_010718, RefSeq Protein:NP_001172, RefSeq Protein:NP_001188281, RefSeq Protein:NP_550434, RefSeq Protein:NP_550435, RefSeq Protein:NP_550436, RefSeq RNA:NM_001181, RefSeq RNA:NM_001201352, RefSeq RNA:NM_080912, RefSeq RNA:NM_080913, RefSeq RNA:NM_080914, UCSC Genome Browser:NM_001181, UniProtKB:P07307 No chr17 7004641 7018292 7101322 7115522 +PA134891064 55870 HGNC:19088 ENSG00000116539 ASH1 like histone lysine methyltransferase ASH1L ash1 (absent, small, or homeotic)-like (Drosophila) ASH1, ASH1L1, KMT2H, huASH1 Yes No Comparative Toxicogenomics Database:55870, Ensembl:ENSG00000116539, GeneCard:ASH1L, HGNC:HGNC:19088, HumanCyc Gene:HS04019, ModBase:Q9NR48, NCBI Gene:55870, OMIM:607999, RefSeq DNA:NT_004487, RefSeq Protein:NP_060959, RefSeq RNA:NM_018489, UniProtKB:Q9NR48 No chr1 155305052 155532324 155335261 155563160 +PA25044 9070 HGNC:744 ENSG00000129691 ASH2 like, histone lysine methyltransferase complex subunit ASH2L ash2 (absent, small, or homeotic)-like (Drosophila) ASH2, ASH2L1, ASH2L2, Bre2 Yes No Comparative Toxicogenomics Database:9070, Ensembl:ENSG00000129691, GenAtlas:ASH2L, GeneCard:ASH2L, HGNC:HGNC:744, HumanCyc Gene:HS05307, ModBase:Q9UBL3, NCBI Gene:9070, OMIM:604782, RefSeq DNA:NT_167187, RefSeq Protein:NP_001098684, RefSeq Protein:NP_004665, RefSeq RNA:NM_001105214, RefSeq RNA:NM_004674, UCSC Genome Browser:NM_004674, UniProtKB:Q9UBL3 No chr8 37962483 37997598 38104965 38140080 +PA134973299 266703 HGNC:19332 ENSG00000224144 ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1 ASH2LP1 Yes No Ensembl:ENSG00000224144, GeneCard:ASH2LP1, HGNC:HGNC:19332, NCBI Gene:266703, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22774714 22776124 22420377 22421787 +PA24434 41 HGNC:100 ENSG00000110881 acid sensing ion channel subunit 1 ASIC1 acid-sensing (proton-gated) ion channel 1 ACCN2, BNaC2, hBNaC2 Yes No Comparative Toxicogenomics Database:41, Ensembl:ENSG00000110881, GenAtlas:ACCN2, GeneCard:ACCN2, HGNC:HGNC:100, HumanCyc Gene:HS03350, NCBI Gene:41, OMIM:602866, RefSeq DNA:NT_029419, RefSeq Protein:NP_001086, RefSeq Protein:NP_064423, RefSeq RNA:NM_001095, RefSeq RNA:NM_020039, UCSC Genome Browser:NM_001095, UniProtKB:P78348 No chr12 50451420 50477405 50057637 50083622 +PA24433 40 HGNC:99 ENSG00000108684 acid sensing ion channel subunit 2 ASIC2 acid-sensing (proton-gated) ion channel 2, brain Na+ channel-1, degenerin ACCN, ACCN1, ASIC2a, BNC1, BNaC1, MDEG, hBNaC1 Yes Yes Comparative Toxicogenomics Database:40, Ensembl:ENSG00000108684, GenAtlas:ACCN1, GeneCard:ACCN1, HGNC:HGNC:99, HumanCyc Gene:HS03142, ModBase:Q16515, NCBI Gene:40, OMIM:601784, RefSeq DNA:NT_010799, RefSeq Protein:NP_001085, RefSeq Protein:NP_899233, RefSeq RNA:NM_001094, RefSeq RNA:NM_183377, UCSC Genome Browser:NM_001094, UniProtKB:Q16515 No chr17 31340105 32483825 33013087 34156806 +PA24435 9311 HGNC:101 ENSG00000213199 acid sensing ion channel subunit 3 ASIC3 acid-sensing (proton-gated) ion channel 3, testis sodium channel 1 ACCN3, DRASIC, TNaC1 Yes No Comparative Toxicogenomics Database:9311, Ensembl:ENSG00000213199, GenAtlas:ACCN3, GeneCard:ACCN3, HGNC:HGNC:101, ModBase:Q9UHC3, NCBI Gene:9311, OMIM:611741, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_004760, RefSeq Protein:NP_064717, RefSeq Protein:NP_064718, RefSeq RNA:NM_004769, RefSeq RNA:NM_020321, RefSeq RNA:NM_020322, UCSC Genome Browser:NM_004769, UniProtKB:Q9UHC3 No chr7 150745379 150749843 151048292 151052756 +PA134956731 55515 HGNC:21263 ENSG00000072182 acid sensing ion channel subunit family member 4 ASIC4 acid-sensing (proton-gated) ion channel family member 4 ACCN4, BNAC4 Yes No Ensembl:ENSG00000072182, GeneCard:ACCN4, HGNC:HGNC:21263, HumanCyc Gene:HS01058, ModBase:Q96FT7, NCBI Gene:55515, OMIM:606715, RefSeq DNA:NT_005403, RefSeq Protein:NP_061144, RefSeq Protein:NP_878267, RefSeq RNA:NM_018674, RefSeq RNA:NM_182847, UniProtKB:C9JBG3, UniProtKB:Q96FT7 No chr2 220378892 220403494 219514170 219538772 +PA134946702 51802 HGNC:17537 ENSG00000256394 acid sensing ion channel subunit family member 5 ASIC5 acid-sensing (proton-gated) ion channel family member 5 ACCN5, HINAC, INAC Yes No Comparative Toxicogenomics Database:51802, Ensembl:ENSG00000256394, GeneCard:ACCN5, HGNC:HGNC:17537, ModBase:Q9NY37, NCBI Gene:51802, RefSeq DNA:NT_016354, RefSeq Protein:NP_059115, RefSeq RNA:NM_017419, UniProtKB:Q9NY37 No chr4 156750881 156787425 155829699 155867303 +PA25045 434 HGNC:745 ENSG00000101440 agouti signaling protein ASIP nonagouti homolog (mouse) AGTIL, ASP Yes No Comparative Toxicogenomics Database:434, Ensembl:ENSG00000101440, GenAtlas:ASIP, GeneCard:ASIP, HGNC:HGNC:745, HumanCyc Gene:HS02269, ModBase:P42127, NCBI Gene:434, OMIM:600201, OMIM:611742, RefSeq DNA:NG_011439, RefSeq DNA:NT_011362, RefSeq Protein:NP_001663, RefSeq RNA:NM_001672, UCSC Genome Browser:NM_001672, UniProtKB:P42127 No chr20 32829188 32857150 34186493 34269344 +PA25046 435 HGNC:746 ENSG00000126522 argininosuccinate lyase ASL ASAL Yes No Comparative Toxicogenomics Database:435, Ensembl:ENSG00000126522, GenAtlas:ASL, GeneCard:ASL, HGNC:HGNC:746, HumanCyc Gene:HS10034, ModBase:P04424, NCBI Gene:435, OMIM:207900, OMIM:608310, RefSeq DNA:NG_009288, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_000039, RefSeq Protein:NP_001020114, RefSeq Protein:NP_001020115, RefSeq Protein:NP_001020117, RefSeq RNA:NM_000048, RefSeq RNA:NM_001024943, RefSeq RNA:NM_001024944, RefSeq RNA:NM_001024946, UCSC Genome Browser:NM_000048, UniProtKB:P04424 No chr7 65540776 65558330 66075789 66093343 +PA25047 436 HGNC:747 ENSG00000244723 argininosuccinate lyase pseudogene 1 ASLP1 Yes No Ensembl:ENSG00000244723, GenAtlas:ASLL, GeneCard:ASLP1, HGNC:HGNC:747, NCBI Gene:436, RefSeq DNA:NG_002637, RefSeq DNA:NT_011520 No chr22 23991155 23995546 23648788 23653359 +PA25049 438 HGNC:750 ENSG00000196433 acetylserotonin O-methyltransferase ASMT ASMTY, HIOMT, HIOMTY Yes No Ensembl:ENSG00000196433, GenAtlas:ASMT, GeneCard:ASMT, HGNC:HGNC:750, HumanCyc Gene:HS09884, ModBase:P46597, NCBI Gene:438, OMIM:300015, OMIM:402500, RefSeq DNA:NG_016337, RefSeq DNA:NT_167196, RefSeq DNA:NT_167204, RefSeq Protein:NP_001164509, RefSeq Protein:NP_001164510, RefSeq Protein:NP_004034, RefSeq RNA:NM_001171038, RefSeq RNA:NM_001171039, RefSeq RNA:NM_004043, UCSC Genome Browser:NM_004043, UniProtKB:P46597 No chrX 1714348 1761974 1595455 1643081 +PA25050 8623 HGNC:751 ENSG00000169093 acetylserotonin O-methyltransferase like ASMTL acetylserotonin O-methyltransferase-like Yes No Comparative Toxicogenomics Database:8623, Ensembl:ENSG00000169093, GenAtlas:ASMTL, GeneCard:ASMTL, HGNC:HGNC:751, HumanCyc Gene:HS09881, ModBase:O95671, NCBI Gene:8623, OMIM:300162, OMIM:400011, RefSeq DNA:NG_016772, RefSeq DNA:NT_167196, RefSeq DNA:NT_167204, RefSeq Protein:NP_001166944, RefSeq Protein:NP_001166945, RefSeq Protein:NP_004183, RefSeq RNA:NM_001173473, RefSeq RNA:NM_001173474, RefSeq RNA:NM_004192, UCSC Genome Browser:NM_004192, UniProtKB:B3KM43, UniProtKB:B4DX75, UniProtKB:O95671 No chrX 1522032 1572687 1403139 1453794 +PA165756431 80161 HGNC:25811 ENSG00000236017 ASMTL antisense RNA 1 ASMTL-AS1 FLJ13330 Yes No Ensembl:ENSG00000236017, GeneCard:ASMTLAS, HGNC:HGNC:25811, NCBI Gene:80161, RefSeq DNA:NT_033330, RefSeq DNA:NT_113972, RefSeq DNA:NT_167196, RefSeq DNA:NT_167204, RefSeq Protein:XP_001720276, RefSeq RNA:NR_026710, RefSeq RNA:NR_026711, RefSeq RNA:XM_001720224, RefSeq RNA:XR_040863, RefSeq RNA:XR_040864 No chrX 1519424 1534314 1400531 1415421 +PA25052 440 HGNC:753 ENSG00000070669 asparagine synthetase (glutamine-hydrolyzing) ASNS Yes Yes Comparative Toxicogenomics Database:440, Ensembl:ENSG00000070669, GenAtlas:ASNS, GeneCard:ASNS, HGNC:HGNC:753, HumanCyc Gene:HS01002, ModBase:P08243, NCBI Gene:440, OMIM:108370, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001171546, RefSeq Protein:NP_001171547, RefSeq Protein:NP_001171548, RefSeq Protein:NP_001664, RefSeq Protein:NP_597680, RefSeq Protein:NP_899199, RefSeq RNA:NM_001178075, RefSeq RNA:NM_001178076, RefSeq RNA:NM_001178077, RefSeq RNA:NM_001673, RefSeq RNA:NM_133436, RefSeq RNA:NM_183356, UCSC Genome Browser:NM_001673, UniProtKB:P08243 No chr7 97481429 97501854 97852117 97872542 +PA143485312 54529 HGNC:24910 ENSG00000138381 asparagine synthetase domain containing 1 ASNSD1 FLJ20752, NBLA00058, NS3TP1 Yes No Comparative Toxicogenomics Database:54529, Ensembl:ENSG00000138381, GeneCard:ASNSD1, HGNC:HGNC:24910, HumanCyc Gene:HS06495, ModBase:Q9NWL6, NCBI Gene:54529, RefSeq DNA:NT_005403, RefSeq Protein:NP_061921, RefSeq RNA:NM_019048, UniProtKB:Q9NWL6 No chr2 190526125 190535557 189661399 189670831 +PA25053 389652 HGNC:754 ENSG00000248498 asparagine synthetase pseudogene 1 ASNSP1 Yes No Ensembl:ENSG00000248498, GenAtlas:ASNSL1, GeneCard:ASNSP1, HGNC:HGNC:754, NCBI Gene:389652, RefSeq DNA:NG_007178, RefSeq DNA:NT_023678 No chr8 47490828 47529361 46579206 46617739 +PA25054 442 HGNC:755 asparagine synthetase pseudogene 2 ASNSP2 Yes No GenAtlas:ASNSL2, GeneCard:ASNSP2, HGNC:HGNC:755, NCBI Gene:442 No chr21 9742188 9742343 8853355 8853510 +PA25055 443 HGNC:756 ENSG00000108381 aspartoacylase ASPA Canavan disease, aminoacylase 2, “cytosolic aspartoacylase”, “cytosolic aspartoacylase” ACY2, ASP Yes No Comparative Toxicogenomics Database:443, Ensembl:ENSG00000108381, GenAtlas:ASPA, GeneCard:ASPA, HGNC:HGNC:756, HumanCyc Gene:HS03094, ModBase:P45381, NCBI Gene:443, OMIM:271900, OMIM:608034, RefSeq DNA:NG_008399, RefSeq DNA:NT_010718, RefSeq Protein:NP_000040, RefSeq Protein:NP_001121557, RefSeq RNA:NM_000049, RefSeq RNA:NM_001128085, UCSC Genome Browser:NM_000049, UniProtKB:P45381, UniProtKB:Q6FH48 No chr17 3377404 3402700 3474106 3502534 +PA164716234 554235 HGNC:33856 ENSG00000204653 aspartate dehydrogenase domain containing ASPDH Yes No Ensembl:ENSG00000204653, GeneCard:ASPDH, HGNC:HGNC:33856, NCBI Gene:554235, RefSeq DNA:NT_011109, RefSeq Protein:NP_001019827, RefSeq Protein:NP_001108070, RefSeq RNA:NM_001024656, RefSeq RNA:NM_001114598, UniProtKB:A6ND91 No chr19 51014857 51018689 50511600 50514690 +PA166180563 374569 HGNC:20123 ENSG00000166183 asparaginase ASPG 60 kDa lysophospholipase, 60-kDa-lysophospholipase, PAF acetylhydrolase C14orf76, LysoLP, hASNase1 Yes No Ensembl:ENSG00000166183, HGNC:HGNC:20123, NCBI Gene:374569 No 0 0 0 0 +PA25056 444 HGNC:757 ENSG00000198363 aspartate beta-hydroxylase ASPH humbug, junctate, junctin BAH, CASQ2BP1, HAAH, JCTN Yes Yes Comparative Toxicogenomics Database:444, Ensembl:ENSG00000198363, GenAtlas:ASPH, GeneCard:ASPH, HGNC:HGNC:757, HumanCyc Gene:HS09135, ModBase:Q12797, NCBI Gene:444, OMIM:600582, RefSeq DNA:NG_013210, RefSeq DNA:NT_008183, RefSeq Protein:NP_001158222, RefSeq Protein:NP_001158223, RefSeq Protein:NP_001158224, RefSeq Protein:NP_001158225, RefSeq Protein:NP_001158226, RefSeq Protein:NP_001158227, RefSeq Protein:NP_001158228, RefSeq Protein:NP_004309, RefSeq Protein:NP_064549, RefSeq Protein:NP_115855, RefSeq Protein:NP_115856, RefSeq Protein:NP_115857, RefSeq RNA:NM_001164750, RefSeq RNA:NM_001164751, RefSeq RNA:NM_001164752, RefSeq RNA:NM_001164753, RefSeq RNA:NM_001164754, RefSeq RNA:NM_001164755, RefSeq RNA:NM_001164756, RefSeq RNA:NM_004318, RefSeq RNA:NM_020164, RefSeq RNA:NM_032466, RefSeq RNA:NM_032467, RefSeq RNA:NM_032468, UCSC Genome Browser:NM_004318, UniProtKB:B4DIC9, UniProtKB:B4DQ07, UniProtKB:B4E2K4, UniProtKB:B7ZM95, UniProtKB:B7ZM96, UniProtKB:Q12797, UniProtKB:Q6NXR7, UniProtKB:Q8TB28, UniProtKB:Q9H291 No chr8 62413115 62627199 61500556 61714640 +PA143485313 253982 HGNC:27380 ENSG00000174939 aspartate beta-hydroxylase domain containing 1 ASPHD1 Yes No Ensembl:ENSG00000174939, GeneCard:ASPHD1, HGNC:HGNC:27380, ModBase:Q5U4P2, NCBI Gene:253982, RefSeq DNA:NT_010393, RefSeq Protein:NP_859069, RefSeq RNA:NM_181718, UniProtKB:Q5U4P2 No chr16 29912147 29931181 29900392 29919860 +PA143485314 57168 HGNC:30437 ENSG00000128203 aspartate beta-hydroxylase domain containing 2 ASPHD2 FLJ39838 Yes No Ensembl:ENSG00000128203, GeneCard:ASPHD2, HGNC:HGNC:30437, HumanCyc Gene:HS05161, ModBase:Q6ICH7, NCBI Gene:57168, RefSeq DNA:NT_011520, RefSeq Protein:NP_065170, RefSeq RNA:NM_020437, UniProtKB:Q6ICH7 No chr22 26825280 26840978 26429314 26445012 +PA38782 259266 HGNC:19048 ENSG00000066279 assembly factor for spindle microtubules ASPM """abnormal spindle microtubule assembly"", ""asp (abnormal spindle) homolog, microcephaly associated (Drosophila)""" ASP, Calmbp1, FLJ10517, FLJ10549, MCPH5 Yes No Comparative Toxicogenomics Database:259266, Ensembl:ENSG00000066279, GenAtlas:ASPM, GeneCard:ASPM, HGNC:HGNC:19048, HumanCyc Gene:HS12181, ModBase:Q9NVS1, NCBI Gene:259266, OMIM:605481, OMIM:608716, RefSeq DNA:NG_015867, RefSeq DNA:NT_004487, RefSeq Protein:NP_001193775, RefSeq Protein:NP_060606, RefSeq RNA:NM_001206846, RefSeq RNA:NM_018136, UCSC Genome Browser:NM_018136, UniProtKB:B3KWI2, UniProtKB:Q8IZT6 No chr1 197053257 197115824 197084127 197146694 +PA25057 54829 HGNC:14872 ENSG00000106819 asporin ASPN asporin proteoglycan FLJ20129, PLAP-1, PLAP1, SLRR1C Yes No Comparative Toxicogenomics Database:54829, Ensembl:ENSG00000106819, GenAtlas:ASPN, GeneCard:ASPN, HGNC:HGNC:14872, HumanCyc Gene:HS02955, ModBase:Q9BXN1, NCBI Gene:54829, OMIM:603932, OMIM:607850, OMIM:608135, RefSeq DNA:NG_023430, RefSeq DNA:NT_008470, RefSeq Protein:NP_001180264, RefSeq Protein:NP_060150, RefSeq RNA:NM_001193335, RefSeq RNA:NM_017680, UCSC Genome Browser:NM_017680, UniProtKB:Q9BXN1 No chr9 95218487 95244844 92456205 92482562 +PA162376919 151516 HGNC:26321 ENSG00000244617 aspartic peptidase retroviral like 1 ASPRV1 """Skin ASpartic Protease"", ""aspartic peptidase, retroviral-like 1""" FLJ25084, SASPase, Taps Yes No Ensembl:ENSG00000244617, GeneCard:ASPRV1, HGNC:HGNC:26321, HumanCyc Gene:HS11416, ModBase:Q53RT3, NCBI Gene:151516, OMIM:611765, RefSeq DNA:NT_022184, RefSeq Protein:NP_690005, RefSeq RNA:NM_152792, UniProtKB:Q53RT3 No chr2 70187221 70189397 69960089 69962265 +PA25058 79058 HGNC:13825 ENSG00000169696 ASPSCR1 tether for SLC2A4, UBX domain containing ASPSCR1 """ASPSCR1, UBX domain containing tether for SLC2A4"", ""Tether containing UBX domain for GLUT4"", ""UBX domain protein 9"", ""alveolar soft part sarcoma chromosome region, candidate 1""" ASPL, ASPS, TUG, UBXD9, UBXN9 Yes No Comparative Toxicogenomics Database:79058, Ensembl:ENSG00000169696, GenAtlas:ASPSCR1, GeneCard:ASPSCR1, HGNC:HGNC:13825, HumanCyc Gene:HS15806, ModBase:Q9BZE9, NCBI Gene:79058, OMIM:606236, OMIM:606243, RefSeq DNA:NT_010663, RefSeq Protein:NP_076988, RefSeq RNA:NM_024083, UCSC Genome Browser:NM_024083, UniProtKB:Q9BZE9 No chr17 79935426 79975282 81977550 82018929 +PA25059 80150 HGNC:16448 ENSG00000162174 asparaginase and isoaspartyl peptidase 1 ASRGL1 asparaginase like 1, asparaginase-like 1 protein ALP, ALP1, FLJ22316 Yes No Comparative Toxicogenomics Database:80150, Ensembl:ENSG00000162174, GenAtlas:ASRGL1, GeneCard:ASRGL1, HGNC:HGNC:16448, HumanCyc Gene:HS08648, ModBase:Q7L266, NCBI Gene:80150, OMIM:609212, RefSeq DNA:NT_167190, RefSeq Protein:NP_001077395, RefSeq Protein:NP_079356, RefSeq RNA:NM_001083926, RefSeq RNA:NM_025080, UCSC Genome Browser:NM_025080, UniProtKB:Q7L266 No chr11 62104774 62160887 62337302 62401399 +PA162376926 445 HGNC:758 ENSG00000130707 argininosuccinate synthase 1 ASS1 ASS, CTLN1 Yes Yes Ensembl:ENSG00000130707, GeneCard:ASS1, HGNC:HGNC:758, HumanCyc Gene:HS05425, ModBase:P00966, NCBI Gene:445, OMIM:215700, OMIM:603470, RefSeq DNA:NG_011542, RefSeq DNA:NT_035014, RefSeq Protein:NP_000041, RefSeq Protein:NP_446464, RefSeq RNA:NM_000050, RefSeq RNA:NM_054012, UniProtKB:P00966, UniProtKB:Q5T6L4 No chr9 133320094 133376661 130444707 130501274 +PA25062 455 HGNC:760 ENSG00000215325 argininosuccinate synthetase 1 pseudogene 10 ASS1P10 Yes No Ensembl:ENSG00000215325, GenAtlas:ASSP10, GeneCard:ASS1P10, HGNC:HGNC:760, NCBI Gene:455, RefSeq DNA:NG_003021, RefSeq DNA:NT_029289 No chr5 144608274 144609848 145228711 145230285 +PA25063 340274 HGNC:761 ENSG00000225308 argininosuccinate synthetase 1 pseudogene 11 ASS1P11 TCAG_1641141 Yes No Ensembl:ENSG00000225308, GenAtlas:ASSP11, GeneCard:ASS1P11, HGNC:HGNC:761, NCBI Gene:340274, RefSeq DNA:NG_008639, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:XR_017256, RefSeq RNA:XR_018049, RefSeq RNA:XR_018343, RefSeq RNA:XR_038613 No chr7 21259597 21261152 21219978 21221533 +PA25064 392302 HGNC:762 ENSG00000237437 argininosuccinate synthetase 1 pseudogene 12 ASS1P12 Yes No Ensembl:ENSG00000237437, GenAtlas:ASSP12, GeneCard:ASS1P12, HGNC:HGNC:762, NCBI Gene:392302, RefSeq DNA:NG_005207, RefSeq DNA:NT_008413 No chr9 32945892 32947458 32945894 32947460 +PA25065 341230 HGNC:763 ENSG00000255353 argininosuccinate synthetase 1 pseudogene 13 ASS1P13 Yes No Ensembl:ENSG00000255353, GenAtlas:ASSP13, GeneCard:ASS1P13, HGNC:HGNC:763, NCBI Gene:341230, RefSeq DNA:NG_011669, RefSeq DNA:NT_033899, RefSeq RNA:XR_016383, RefSeq RNA:XR_018617, RefSeq RNA:XR_039616 No chr11 107046938 107048493 107176212 107177767 +PA25066 459 HGNC:764 ENSG00000257316 argininosuccinate synthetase 1 pseudogene 14 ASS1P14 Yes No Ensembl:ENSG00000257316, GenAtlas:ASSP14, GeneCard:ASS1P14, HGNC:HGNC:764, NCBI Gene:459, RefSeq DNA:NG_005633, RefSeq DNA:NT_009714 No chr12 33138672 33140235 32985738 32987301 +PA25067 447 HGNC:765 ENSG00000223922 argininosuccinate synthetase 1 pseudogene 2 ASS1P2 Yes No Ensembl:ENSG00000223922, GenAtlas:ASSP2, GeneCard:ASS1P2, HGNC:HGNC:765, NCBI Gene:447, RefSeq DNA:NG_000845, RefSeq DNA:NT_022184 No chr2 39037357 39038898 38810215 38811756 +PA25069 449 HGNC:767 ENSG00000213487 argininosuccinate synthetase 1 pseudogene 4 ASS1P4 Yes No Ensembl:ENSG00000213487, GenAtlas:ASSP4, GeneCard:ASS1P4, HGNC:HGNC:767, NCBI Gene:449, RefSeq DNA:NG_000846, RefSeq DNA:NT_011757, RefSeq DNA:NT_167197 No chrX 3285086 3286650 3367045 3368609 +PA25070 450 HGNC:768 ENSG00000227881 argininosuccinate synthetase 1 pseudogene 5 ASS1P5 Yes No Ensembl:ENSG00000227881, GenAtlas:ASSP5, GeneCard:ASS1P5, HGNC:HGNC:768, NCBI Gene:450, RefSeq DNA:NG_000847, RefSeq DNA:NT_028405 No chrX 114899109 114900659 115664789 115666339 +PA25071 451 HGNC:769 ENSG00000215583 argininosuccinate synthetase 1 pseudogene 6 ASS1P6 Yes No Ensembl:ENSG00000215583, GenAtlas:ASSP6, GeneCard:ASS1P6, HGNC:HGNC:769, NCBI Gene:451, RefSeq DNA:NG_000848, RefSeq DNA:NT_011875 No chrY 14042991 14044579 11922285 11923873 +PA25072 339845 HGNC:770 ENSG00000236893 argininosuccinate synthetase 1 pseudogene 7 ASS1P7 Yes No Ensembl:ENSG00000236893, GenAtlas:ASSP7, GeneCard:ASS1P7, HGNC:HGNC:770, NCBI Gene:339845, RefSeq DNA:NG_001079, RefSeq DNA:NT_005612 No chr3 177014711 177016276 177296923 177298488 +PA25073 453 HGNC:771 ENSG00000251418 argininosuccinate synthetase 1 pseudogene 8 ASS1P8 Yes No Ensembl:ENSG00000251418, GenAtlas:ASSP8, GeneCard:ASS1P8, HGNC:HGNC:771, NCBI Gene:453, RefSeq DNA:NG_003009, RefSeq DNA:NT_016354 No chr4 149447412 149448306 148526260 148527154 +PA25074 454 HGNC:772 ENSG00000217791 argininosuccinate synthetase 1 pseudogene 9 ASS1P9 Yes No Ensembl:ENSG00000217791, GenAtlas:ASSP9, GeneCard:ASS1P9, HGNC:HGNC:772, NCBI Gene:454, RefSeq DNA:NG_003022, RefSeq DNA:NT_006713 No chr5 53154894 53156462 53859064 53860632 +PA142672577 28990 HGNC:25021 ENSG00000034533 asteroid homolog 1 ASTE1 asteroid homolog 1 (Drosophila) HT001 Yes No Ensembl:ENSG00000034533, GeneCard:ASTE1, HGNC:HGNC:25021, HumanCyc Gene:HS00501, ModBase:Q2TB18, NCBI Gene:28990, RefSeq DNA:NT_005612, RefSeq Protein:NP_054784, RefSeq RNA:NM_014065, UniProtKB:Q2TB18 No chr3 130732721 130745698 131013873 131026854 +PA134922299 431705 HGNC:31704 ENSG00000188886 astacin like metalloendopeptidase ASTL astacin-like metallo-endopeptidase (M12 family), sperm acrosomal SLLP1 binding SAS1B, ovastacin Yes No Ensembl:ENSG00000188886, GeneCard:ASTL, HGNC:HGNC:31704, NCBI Gene:431705, OMIM:608860, RefSeq DNA:NT_022171, RefSeq Protein:NP_001002036, RefSeq RNA:NM_001002036, UniProtKB:Q6HA08 No chr2 96789589 96804175 96122817 96143059 +PA162376961 460 HGNC:773 ENSG00000152092 astrotactin 1 ASTN1 ASTN Yes No Ensembl:ENSG00000152092, GeneCard:ASTN1, HGNC:HGNC:773, HumanCyc Gene:HS07790, NCBI Gene:460, OMIM:600904, RefSeq DNA:NT_004487, RefSeq Protein:NP_004310, RefSeq Protein:NP_996991, RefSeq RNA:NM_004319, RefSeq RNA:NM_207108, UniProtKB:O14525, UniProtKB:Q96BL7 No chr1 176826441 177134024 176855118 177164904 +PA25076 23245 HGNC:17021 ENSG00000148219 astrotactin 2 ASTN2 KIAA0634 Yes Yes Comparative Toxicogenomics Database:23245, Ensembl:ENSG00000148219, GenAtlas:ASTN2, GeneCard:ASTN2, HGNC:HGNC:17021, HumanCyc Gene:HS14236, ModBase:Q8N6P8, NCBI Gene:23245, OMIM:612856, RefSeq DNA:NG_021409, RefSeq DNA:NT_008470, RefSeq Protein:NP_001171663, RefSeq Protein:NP_001171664, RefSeq Protein:NP_054729, RefSeq Protein:NP_937829, RefSeq Protein:NP_937830, RefSeq Protein:NP_937831, RefSeq RNA:NM_001184734, RefSeq RNA:NM_001184735, RefSeq RNA:NM_014010, RefSeq RNA:NM_198186, RefSeq RNA:NM_198187, RefSeq RNA:NM_198188, UCSC Genome Browser:NM_014010, UniProtKB:B7ZKP4, UniProtKB:B7ZKP5, UniProtKB:O75129 No chr9 119187504 120177317 116425225 117415039 +PA25078 171023 HGNC:18318 ENSG00000171456 ASXL transcriptional regulator 1 ASXL1 additional sex combs like 1 (Drosophila), additional sex combs like transcriptional regulator 1 KIAA0978 Yes No Comparative Toxicogenomics Database:171023, Ensembl:ENSG00000171456, GenAtlas:ASXL1, GeneCard:ASXL1, HGNC:HGNC:18318, HumanCyc Gene:HS15988, ModBase:Q9Y2I4, NCBI Gene:171023, OMIM:612990, RefSeq DNA:NT_011362, RefSeq Protein:NP_001158075, RefSeq Protein:NP_056153, RefSeq RNA:NM_001164603, RefSeq RNA:NM_015338, UCSC Genome Browser:NM_015338, UniProtKB:Q498B9, UniProtKB:Q8IXJ9 No chr20 30946147 31027122 32358062 32439319 +PA134884863 55252 HGNC:23805 ENSG00000143970 ASXL transcriptional regulator 2 ASXL2 additional sex combs like 2 (Drosophila), additional sex combs like transcriptional regulator 2 ASXH2, FLJ10898, KIAA1685 Yes No Comparative Toxicogenomics Database:55252, Ensembl:ENSG00000143970, GeneCard:ASXL2, HGNC:HGNC:23805, HumanCyc Gene:HS13996, ModBase:Q76L83, NCBI Gene:55252, OMIM:612991, RefSeq DNA:NT_022184, RefSeq Protein:NP_060733, RefSeq RNA:NM_018263, UniProtKB:Q76L83 No chr2 25962253 26101312 25733758 25878485 +PA162377010 80816 HGNC:29357 ENSG00000141431 ASXL transcriptional regulator 3 ASXL3 additional sex combs like 3 (Drosophila), additional sex combs like transcriptional regulator 3 KIAA1713 Yes No Ensembl:ENSG00000141431, GeneCard:ASXL3, HGNC:HGNC:29357, ModBase:Q9C0F0, NCBI Gene:80816, RefSeq DNA:NT_010966, RefSeq Protein:NP_085135, RefSeq RNA:NM_030632, UniProtKB:Q9C0F0 No chr18 31158541 31331159 33578577 33751195 +PA25950 136991 HGNC:1350 ENSG00000154438 ankyrin repeat, SAM and basic leucine zipper domain containing 1 ASZ1 ALP1, ANKL1, C7orf7, CT1.19, GASZ, Orf3 Yes No Comparative Toxicogenomics Database:136991, Ensembl:ENSG00000154438, GenAtlas:ASZ1, GeneCard:ASZ1, HGNC:HGNC:1350, HumanCyc Gene:HS14522, ModBase:Q8WWH4, NCBI Gene:136991, OMIM:605797, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_570124, RefSeq RNA:NM_130768, RefSeq RNA:NR_023315, UniProtKB:Q8WWH4 No chr7 117003276 117067577 117363222 117427523 +PA134914940 84896 HGNC:25903 ENSG00000138138 ATPase family AAA domain containing 1 ATAD1 """ATPase family, AAA domain containing 1"", ""Outer mitochondrial transmembrane helix translocase"", ""thorase""" FLJ14600, Msp1 Yes No Ensembl:ENSG00000138138, GeneCard:ATAD1, HGNC:HGNC:25903, HumanCyc Gene:HS06464, ModBase:Q8NBU5, NCBI Gene:84896, RefSeq DNA:NT_030059, RefSeq Protein:NP_116199, RefSeq RNA:NM_032810, UniProtKB:Q8NBU5 No chr10 89511608 89601111 87751512 87841345 +PA134895566 29028 HGNC:30123 ENSG00000156802 ATPase family AAA domain containing 2 ATAD2 """AAA nuclear coregulator cancer-associated protein"", ""ATPase family, AAA domain containing 2""" ANCCA, CT137, DKFZp667N1320, MGC29843, MGC5254, PRO2000 Yes No Comparative Toxicogenomics Database:29028, Ensembl:ENSG00000156802, GeneCard:ATAD2, HGNC:HGNC:30123, HumanCyc Gene:HS08153, ModBase:Q6PL18, NCBI Gene:29028, OMIM:611941, RefSeq DNA:NT_008046, RefSeq Protein:NP_054828, RefSeq RNA:NM_014109, UniProtKB:Q6PL18 No chr8 124332090 124408705 123319850 123396992 +PA162377039 54454 HGNC:29230 ENSG00000119778 ATPase family AAA domain containing 2B ATAD2B ATPase family, AAA domain containing 2B KIAA1240 Yes No Ensembl:ENSG00000119778, GeneCard:ATAD2B, HGNC:HGNC:29230, NCBI Gene:54454, RefSeq DNA:NT_022184, RefSeq Protein:NP_001229267, RefSeq Protein:NP_060022, RefSeq RNA:NM_001242338, RefSeq RNA:NM_017552, UniProtKB:Q8IWJ3, UniProtKB:Q9ULI0 No chr2 23971534 24149978 23689710 23927114 +PA134872099 55210 HGNC:25567 ENSG00000197785 ATPase family AAA domain containing 3A ATAD3A ATPase family, AAA domain containing 3A FLJ10709 Yes No Ensembl:ENSG00000197785, GeneCard:ATAD3A, HGNC:HGNC:25567, HumanCyc Gene:HS08443, ModBase:Q9NVI7, NCBI Gene:55210, OMIM:612316, RefSeq DNA:NT_004350, RefSeq Protein:NP_001164006, RefSeq Protein:NP_001164007, RefSeq Protein:NP_060658, RefSeq RNA:NM_001170535, RefSeq RNA:NM_001170536, RefSeq RNA:NM_018188, UniProtKB:B3KPB3, UniProtKB:D2K8Q1, UniProtKB:Q9NVI7 No chr1 1447523 1470067 1512143 1534687 +PA134993325 83858 HGNC:24007 ENSG00000160072 ATPase family AAA domain containing 3B ATAD3B ATPase family, AAA domain containing 3B KIAA1273, TOB3 Yes No Comparative Toxicogenomics Database:83858, Ensembl:ENSG00000160072, GeneCard:ATAD3B, HGNC:HGNC:24007, ModBase:Q5T9A4, NCBI Gene:83858, OMIM:612317, RefSeq DNA:NT_004350, RefSeq Protein:NP_114127, RefSeq RNA:NM_031921, UniProtKB:Q5T9A4 No chr1 1407139 1444852 1471732 1509466 +PA142672578 219293 HGNC:32151 ENSG00000215915 ATPase family AAA domain containing 3C ATAD3C ATPase family, AAA domain containing 3C FLJ34599 Yes No Ensembl:ENSG00000215915, GeneCard:ATAD3C, HGNC:HGNC:32151, NCBI Gene:219293, RefSeq DNA:NT_004350, RefSeq Protein:NP_001034300, RefSeq RNA:NM_001039211, UniProtKB:A6NGD4 No chr1 1378152 1405538 1449689 1470158 +PA162377100 79915 HGNC:25752 ENSG00000176208 ATPase family AAA domain containing 5 ATAD5 """ATPase family, AAA domain containing 5"", ""enhanced level of genomic instability 1 homolog (S. cerevisiae)""" C17orf41, ELG1, FLJ12735, FRAG1 Yes No Ensembl:ENSG00000176208, GeneCard:ATAD5, HGNC:HGNC:25752, HumanCyc Gene:HS11016, NCBI Gene:79915, OMIM:609534, RefSeq DNA:NT_010799, RefSeq Protein:NP_079133, RefSeq RNA:NM_024857, UniProtKB:Q96QE3 No chr17 29159020 29222295 30830932 30896424 +PA134948212 79969 HGNC:21186 ENSG00000137343, ENSG00000206488, ENSG00000223752, ENSG00000229061, ENSG00000231257, ENSG00000234549, ENSG00000235658 alpha tubulin acetyltransferase 1 ATAT1 alpha-tubulin N-acetyltransferase C6orf134, Em:AB023049.7, FLJ13158, MEC17 Yes Yes Ensembl:ENSG00000137343, Ensembl:ENSG00000206488, Ensembl:ENSG00000223752, Ensembl:ENSG00000229061, Ensembl:ENSG00000231257, Ensembl:ENSG00000234549, Ensembl:ENSG00000235658, GeneCard:C6orf134, HGNC:HGNC:21186, HumanCyc Gene:HS13675, HumanCyc Gene:HS17463, NCBI Gene:79969, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001026892, RefSeq Protein:NP_001177653, RefSeq Protein:NP_079185, RefSeq RNA:NM_001031722, RefSeq RNA:NM_001190724, RefSeq RNA:NM_024909, RefSeq RNA:NR_033821, RefSeq RNA:NR_033822, RefSeq RNA:NR_033823, UniProtKB:Q5SQI0 No chr6 30594613 30614598 30626842 30646823 +PA25080 85300 HGNC:779 ENSG00000167654 ATCAY kinesin light chain interacting caytaxin ATCAY """ATCAY, caytaxin"", ""Cayman ataxia"", ""ataxia, cerebellar, Cayman type"", ""caytaxin""" BNIP-H Yes No Comparative Toxicogenomics Database:85300, Ensembl:ENSG00000167654, GenAtlas:ATCAY, GeneCard:ATCAY, HGNC:HGNC:779, ModBase:Q86WG3, NCBI Gene:85300, OMIM:601238, OMIM:608179, RefSeq DNA:NG_012638, RefSeq DNA:NT_011255, RefSeq Protein:NP_149053, RefSeq RNA:NM_033064, UniProtKB:Q86WG3 No chr19 3880618 3928080 3880620 3928082 +PA25082 11101 HGNC:782 ENSG00000107669 arginyltransferase 1 ATE1 Yes No Comparative Toxicogenomics Database:11101, Ensembl:ENSG00000107669, GenAtlas:ATE1, GeneCard:ATE1, HGNC:HGNC:782, HumanCyc Gene:HS03017, ModBase:O95260, NCBI Gene:11101, OMIM:607103, RefSeq DNA:NT_030059, RefSeq Protein:NP_001001976, RefSeq Protein:NP_008972, RefSeq RNA:NM_001001976, RefSeq RNA:NM_007041, UCSC Genome Browser:NM_007041, UniProtKB:O95260 No chr10 123499939 123688149 121740421 121928801 +PA25083 466 HGNC:783 ENSG00000123268 activating transcription factor 1 ATF1 TREB36 Yes No Comparative Toxicogenomics Database:466, Ensembl:ENSG00000123268, GenAtlas:ATF1, GeneCard:ATF1, HGNC:HGNC:783, HumanCyc Gene:HS04644, ModBase:P18846, NCBI Gene:466, OMIM:123803, RefSeq DNA:NT_029419, RefSeq Protein:NP_005162, RefSeq RNA:NM_005171, UCSC Genome Browser:NM_005171, UniProtKB:P18846 No chr12 51157789 51214943 50763682 50821162 +PA25084 1386 HGNC:784 ENSG00000115966 activating transcription factor 2 ATF2 CRE-BP1, CREB2, HB16, TREB7 Yes Yes Comparative Toxicogenomics Database:1386, Ensembl:ENSG00000115966, GenAtlas:ATF2, GeneCard:ATF2, HGNC:HGNC:784, HumanCyc Gene:HS03961, ModBase:P15336, NCBI Gene:1386, OMIM:123811, RefSeq DNA:NT_005403, RefSeq Protein:NP_001871, RefSeq RNA:NM_001880, UCSC Genome Browser:NM_001880, UniProtKB:P15336, UniProtKB:Q8TAR1 No chr2 175936978 176032934 175072250 175168206 +PA25085 467 HGNC:785 ENSG00000162772 activating transcription factor 3 ATF3 Yes Yes Comparative Toxicogenomics Database:467, Ensembl:ENSG00000162772, GenAtlas:ATF3, GeneCard:ATF3, HGNC:HGNC:785, HumanCyc Gene:HS08739, ModBase:P18847, NCBI Gene:467, OMIM:603148, RefSeq DNA:NT_167186, RefSeq Protein:NP_001025458, RefSeq Protein:NP_001035709, RefSeq Protein:NP_001193413, RefSeq Protein:NP_001193414, RefSeq Protein:NP_001193415, RefSeq Protein:NP_001193417, RefSeq Protein:NP_001665, RefSeq Protein:NP_004015, RefSeq RNA:NM_001030287, RefSeq RNA:NM_001040619, RefSeq RNA:NM_001206484, RefSeq RNA:NM_001206485, RefSeq RNA:NM_001206486, RefSeq RNA:NM_001206488, RefSeq RNA:NM_001674, RefSeq RNA:NM_004024, UCSC Genome Browser:NM_001674, UniProtKB:P18847, UniProtKB:Q6ICQ9, UniProtKB:Q8WYM6 No chr1 212738676 212794119 212565334 212620777 +PA25086 468 HGNC:786 ENSG00000128272 activating transcription factor 4 ATF4 activating transcription factor 4 (tax-responsive enhancer element B67), tax-responsive enhancer element B67 CREB-2, TAXREB67, TXREB Yes No Comparative Toxicogenomics Database:468, Ensembl:ENSG00000128272, GenAtlas:ATF4, GeneCard:ATF4, HGNC:HGNC:786, HumanCyc Gene:HS05170, ModBase:P18848, NCBI Gene:468, OMIM:604064, RefSeq DNA:NT_011520, RefSeq Protein:NP_001666, RefSeq Protein:NP_877962, RefSeq RNA:NM_001675, RefSeq RNA:NM_182810, UCSC Genome Browser:NM_001675, UniProtKB:P18848, UniProtKB:Q96AQ3 No chr22 39916569 39918691 39519709 39522686 +PA25089 469 HGNC:789 ENSG00000213338 activating transcription factor 4 pseudogene 1 ATF4P1 TAXREB67P Yes No Ensembl:ENSG00000213338, GenAtlas:ATF4P, GeneCard:ATF4P1, HGNC:HGNC:789, NCBI Gene:469, RefSeq DNA:NG_001080, RefSeq DNA:NT_167198 No chrX 153850591 153852031 154622340 154623780 +PA25088 643159 HGNC:788 ENSG00000228218 activating transcription factor 4 pseudogene 3 ATF4P3 Yes No Ensembl:ENSG00000228218, GenAtlas:ATF4C, GeneCard:ATF4P3, HGNC:HGNC:788, NCBI Gene:643159, RefSeq DNA:NG_009319, RefSeq DNA:NT_010783 No chr17 74221746 74223167 76225665 76227086 +PA25087 100127952 HGNC:787 ENSG00000256167 activating transcription factor 4 pseudogene 4 ATF4P4 Yes No Ensembl:ENSG00000256167, GenAtlas:ATF4B, GeneCard:ATF4B, HGNC:HGNC:787, NCBI Gene:100127952 No chr11 113660760 113662175 113790038 113791453 +PA25090 22809 HGNC:790 ENSG00000169136 activating transcription factor 5 ATF5 Yes Yes Comparative Toxicogenomics Database:22809, Ensembl:ENSG00000169136, GenAtlas:ATF5, GeneCard:ATF5, HGNC:HGNC:790, HumanCyc Gene:HS09888, ModBase:Q9Y2D1, NCBI Gene:22809, OMIM:606398, RefSeq DNA:NT_011109, RefSeq Protein:NP_001180575, RefSeq Protein:NP_036200, RefSeq RNA:NM_001193646, RefSeq RNA:NM_012068, UCSC Genome Browser:NM_012068, UniProtKB:A8K3H7, UniProtKB:Q9Y2D1 No chr19 50431959 50437193 49928702 49933936 +PA25091 22926 HGNC:791 ENSG00000118217 activating transcription factor 6 ATF6 activating transcription factor 6 alpha ATF6A, ATP6alpha Yes No Comparative Toxicogenomics Database:22926, Ensembl:ENSG00000118217, GenAtlas:ATF6, GeneCard:ATF6, HGNC:HGNC:791, HumanCyc Gene:HS04201, ModBase:P18850, NCBI Gene:22926, OMIM:605537, RefSeq DNA:NT_004487, RefSeq Protein:NP_031374, RefSeq RNA:NM_007348, UCSC Genome Browser:NM_007348, UniProtKB:P18850 No chr1 161736034 161933860 161766244 161964070 +PA164716250 1388 HGNC:2349 ENSG00000168468, ENSG00000213676, ENSG00000228628, ENSG00000234539 activating transcription factor 6 beta ATF6B Cyclic AMP-dependent transcription factor ATF-6 beta ATF6beta, CREBL1, G13 Yes No Ensembl:ENSG00000168468, Ensembl:ENSG00000213676, Ensembl:ENSG00000228628, Ensembl:ENSG00000234539, GeneCard:ATF6B, HGNC:HGNC:2349, HumanCyc Gene:HS09767, ModBase:Q9H3W1, NCBI Gene:1388, OMIM:600984, RefSeq DNA:NG_000013, RefSeq DNA:NG_004658, RefSeq DNA:NG_005163, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq Protein:NP_001129625, RefSeq Protein:NP_004372, RefSeq RNA:NM_001136153, RefSeq RNA:NM_004381, UniProtKB:Q6AZW6, UniProtKB:Q99941 No chr6 32083045 32096017 32115268 32128240 +PA25092 11016 HGNC:792 ENSG00000170653 activating transcription factor 7 ATF7 ATFA Yes No Comparative Toxicogenomics Database:11016, Ensembl:ENSG00000170653, GenAtlas:ATF7, GeneCard:ATF7, HGNC:HGNC:792, HumanCyc Gene:HS10162, ModBase:P17544, NCBI Gene:11016, OMIM:606371, RefSeq DNA:NT_029419, RefSeq Protein:NP_001123531, RefSeq Protein:NP_001123532, RefSeq Protein:NP_001193611, RefSeq Protein:NP_001193612, RefSeq Protein:NP_006847, RefSeq RNA:NM_001130059, RefSeq RNA:NM_001130060, RefSeq RNA:NM_001206682, RefSeq RNA:NM_001206683, RefSeq RNA:NM_006856, UCSC Genome Browser:NM_006856, UniProtKB:B2RMP1, UniProtKB:P17544 No chr12 53901640 54020200 53507856 53626415 +PA134889460 55729 HGNC:20092 ENSG00000171681 activating transcription factor 7 interacting protein ATF7IP ATFa-associated modulator, MBD1-containing chromatin-associated factor 1 AM, ATF7IP1, FLJ10688, MCAF, MCAF1, p621 Yes No Comparative Toxicogenomics Database:55729, Ensembl:ENSG00000171681, GeneCard:ATF7IP, HGNC:HGNC:20092, HumanCyc Gene:HS16011, NCBI Gene:55729, RefSeq DNA:NT_009714, RefSeq Protein:NP_060649, RefSeq RNA:NM_018179, UniProtKB:B3KNI7, UniProtKB:B3KQF8 No chr12 14518566 14655864 14365632 14502935 +PA134988230 80063 HGNC:20397 ENSG00000166669 activating transcription factor 7 interacting protein 2 ATF7IP2 MBD1-containing chromatin-associated factor 2 FLJ12668, MCAF2 Yes No Ensembl:ENSG00000166669, GeneCard:ATF7IP2, HGNC:HGNC:20397, HumanCyc Gene:HS15472, ModBase:Q5U623, NCBI Gene:80063, RefSeq DNA:NT_010393, RefSeq Protein:NP_079273, RefSeq RNA:NM_024997, UniProtKB:Q5U623 No chr16 10479912 10577495 10386055 10483640 +PA134872167 83734 HGNC:20315 ENSG00000152348 autophagy related 10 ATG10 APG10L, DKFZP586I0418, FLJ13954 Yes Yes Comparative Toxicogenomics Database:83734, Ensembl:ENSG00000152348, GeneCard:ATG10, HGNC:HGNC:20315, HumanCyc Gene:HS14425, ModBase:Q9H0Y0, NCBI Gene:83734, OMIM:610800, RefSeq DNA:NT_006713, RefSeq Protein:NP_001124500, RefSeq Protein:NP_113670, RefSeq RNA:NM_001131028, RefSeq RNA:NM_031482, UniProtKB:Q9H0Y0 No chr5 81267844 81551958 81972021 82258502 +PA143485374 60673 HGNC:25679 ENSG00000123395 autophagy related 101 ATG101 chromosome 12 open reading frame 44 ATG101, C12orf44, FLJ11773 Yes No Ensembl:ENSG00000123395, GeneCard:C12orf44, HGNC:HGNC:25679, HumanCyc Gene:HS13089, ModBase:Q9BSB4, NCBI Gene:60673, RefSeq DNA:NT_029419, RefSeq Protein:NP_001092143, RefSeq Protein:NP_068753, RefSeq RNA:NM_001098673, RefSeq RNA:NM_021934, UniProtKB:Q9BSB4 No chr12 52463758 52471279 52069974 52077495 +PA24879 9140 HGNC:588 ENSG00000145782 autophagy related 12 ATG12 APG12 autophagy 12-like APG12, APG12L Yes No Comparative Toxicogenomics Database:9140, Ensembl:ENSG00000145782, GenAtlas:ATG12, GeneCard:ATG12, HGNC:HGNC:588, HumanCyc Gene:HS07285, NCBI Gene:9140, OMIM:609608, RefSeq DNA:NT_034772, RefSeq Protein:NP_004698, RefSeq RNA:NM_004707, RefSeq RNA:NR_033362, RefSeq RNA:NR_033363, UCSC Genome Browser:NM_004707, UniProtKB:O94817 No chr5 115163893 115177548 115828196 115841851 +PA165696336 100293948 HGNC:38605 ENSG00000224121 autophagy related 12 pseudogene 2 ATG12P2 Yes No Ensembl:ENSG00000224121, HGNC:HGNC:38605, NCBI Gene:100293948 No chr2 223766382 223769777 222901664 222905059 +PA165543187 9776 HGNC:29091 ENSG00000175224 autophagy related 13 ATG13 KIAA0652 Yes No Ensembl:ENSG00000175224, GeneCard:ATG13, HGNC:HGNC:29091, HumanCyc Gene:HS16448, NCBI Gene:9776, RefSeq DNA:NT_009237, RefSeq Protein:NP_001136145, RefSeq Protein:NP_001192048, RefSeq Protein:NP_001192049, RefSeq Protein:NP_001192050, RefSeq Protein:NP_001192051, RefSeq Protein:NP_055556, RefSeq RNA:NM_001142673, RefSeq RNA:NM_001205119, RefSeq RNA:NM_001205120, RefSeq RNA:NM_001205121, RefSeq RNA:NM_001205122, RefSeq RNA:NM_014741, RefSeq RNA:NR_024587, RefSeq RNA:NR_024588, RefSeq RNA:NR_024589, UniProtKB:A8K0S6, UniProtKB:O75143 No chr11 46638826 46697569 46617276 46676019 +PA165478560 22863 HGNC:19962 ENSG00000126775 autophagy related 14 ATG14 Barkor, beclin 1-associated autophagy-related key regulator ATG14L, KIAA0831 Yes No Ensembl:ENSG00000126775, GeneCard:ATG14, HGNC:HGNC:19962, HumanCyc Gene:HS13216, ModBase:Q6ZNE5, NCBI Gene:22863, OMIM:613515, RefSeq DNA:NT_026437, RefSeq Protein:NP_055739, RefSeq RNA:NM_014924, UniProtKB:Q6ZNE5 No chr14 55833109 55878576 55366391 55411858 +PA134902949 55054 HGNC:21498 ENSG00000085978 autophagy related 16 like 1 ATG16L1 autophagy related 16-like 1 (S. cerevisiae) APG16L, ATG16A, ATG16L, FLJ10035, WDR30 Yes Yes Comparative Toxicogenomics Database:55054, Ensembl:ENSG00000085978, GeneCard:ATG16L1, HGNC:HGNC:21498, HumanCyc Gene:HS12289, ModBase:Q676U5, NCBI Gene:55054, OMIM:610767, OMIM:611081, RefSeq DNA:NG_023038, RefSeq DNA:NT_005120, RefSeq Protein:NP_001177195, RefSeq Protein:NP_001177196, RefSeq Protein:NP_060444, RefSeq Protein:NP_110430, RefSeq Protein:NP_942593, RefSeq RNA:NM_001190266, RefSeq RNA:NM_001190267, RefSeq RNA:NM_017974, RefSeq RNA:NM_030803, RefSeq RNA:NM_198890, UniProtKB:A3EXL0, UniProtKB:Q17RG0, UniProtKB:Q53SV2, UniProtKB:Q676U5 No chr2 234160217 234204320 233251571 233295674 +PA142672575 89849 HGNC:25464 ENSG00000168010 autophagy related 16 like 2 ATG16L2 autophagy related 16-like 2 (S. cerevisiae) ATG16B, FLJ00012, WDR80 Yes No Ensembl:ENSG00000168010, GeneCard:ATG16L2, HGNC:HGNC:25464, ModBase:Q8NAA4, NCBI Gene:89849, RefSeq DNA:NT_167190, RefSeq Protein:NP_203746, RefSeq RNA:NM_033388, UniProtKB:Q8NAA4, UniProtKB:Q9H7Q5 No chr11 72525451 72553793 72814406 72843740 +PA162377101 23130 HGNC:29028 ENSG00000110046 autophagy related 2A ATG2A bridge-like lipid transfer protein family member 4A BLTP4A, KIAA0404 Yes No Ensembl:ENSG00000110046, GeneCard:ATG2A, HGNC:HGNC:29028, ModBase:Q2TAZ0, NCBI Gene:23130, RefSeq DNA:NT_167190, RefSeq Protein:NP_055919, RefSeq RNA:NM_015104, UniProtKB:Q2TAZ0 No chr11 64662004 64684722 64894532 64917250 +PA162377102 55102 HGNC:20187 ENSG00000066739 autophagy related 2B ATG2B bridge-like lipid transfer protein family member 4B BLTP4B, C14orf103, FLJ10242 Yes No Ensembl:ENSG00000066739, GeneCard:ATG2B, HGNC:HGNC:20187, HumanCyc Gene:HS12184, NCBI Gene:55102, RefSeq DNA:NT_026437, RefSeq Protein:NP_060506, RefSeq RNA:NM_018036, UniProtKB:Q96BY7 No chr14 96747595 96829678 96281258 96363341 +PA134883444 64422 HGNC:20962 ENSG00000144848 autophagy related 3 ATG3 APG3L, DKFZp564M1178, FLJ22125, MGC15201, PC3-96 Yes No Comparative Toxicogenomics Database:64422, Ensembl:ENSG00000144848, GeneCard:ATG3, HGNC:HGNC:20962, HumanCyc Gene:HS14058, ModBase:Q9NT62, NCBI Gene:64422, OMIM:609606, RefSeq DNA:NT_005612, RefSeq Protein:NP_071933, RefSeq RNA:NM_022488, UniProtKB:Q9NT62 No chr3 112251354 112280810 112532507 112561963 +PA25184 115201 HGNC:16489 ENSG00000101844 autophagy related 4A cysteine peptidase ATG4A autophagy related 4A, cysteine peptidase APG4A, AUTL2 Yes No Comparative Toxicogenomics Database:115201, Ensembl:ENSG00000101844, GenAtlas:ATG4A, GeneCard:ATG4A, HGNC:HGNC:16489, HumanCyc Gene:HS12467, ModBase:Q96KQ1, NCBI Gene:115201, OMIM:300663, RefSeq DNA:NT_011651, RefSeq Protein:NP_443168, RefSeq Protein:NP_840054, RefSeq RNA:NM_052936, RefSeq RNA:NM_178270, UCSC Genome Browser:NM_052936, UniProtKB:Q8WYN0 No chrX 107334899 107397901 108088900 108154671 +PA134898340 23192 HGNC:20790 ENSG00000168397 autophagy related 4B cysteine peptidase ATG4B """APG4B"", ""autophagy related 4B, cysteine peptidase""" AUTL1, Apg4B, DKFZp586D1822, KIAA0943 Yes No Comparative Toxicogenomics Database:23192, Ensembl:ENSG00000168397, GeneCard:ATG4B, HGNC:HGNC:20790, HumanCyc Gene:HS15668, ModBase:Q9Y4P1, NCBI Gene:23192, OMIM:611338, RefSeq DNA:NT_005416, RefSeq Protein:NP_037457, RefSeq Protein:NP_847896, RefSeq RNA:NM_013325, RefSeq RNA:NM_178326, UniProtKB:Q9Y4P1 No chr2 242576775 242613272 241637612 241673857 +PA25183 84938 HGNC:16040 ENSG00000125703 autophagy related 4C cysteine peptidase ATG4C autophagy related 4C, cysteine peptidase APG4C, AUTL1, AUTL3, FLJ14867 Yes No Ensembl:ENSG00000125703, GenAtlas:ATG4C, GeneCard:ATG4C, HGNC:HGNC:16040, HumanCyc Gene:HS13174, ModBase:Q96DT6, NCBI Gene:84938, OMIM:611339, RefSeq DNA:NT_032977, RefSeq Protein:NP_116241, RefSeq Protein:NP_835739, RefSeq RNA:NM_032852, RefSeq RNA:NM_178221, UCSC Genome Browser:NM_032852, UniProtKB:Q96DT6 No chr1 63249777 63330941 62784106 62865270 +PA134907475 84971 HGNC:20789 ENSG00000130734 autophagy related 4D cysteine peptidase ATG4D autophagy related 4D, cysteine peptidase APG4-D, APG4D, AUTL4 Yes No Comparative Toxicogenomics Database:84971, Ensembl:ENSG00000130734, GeneCard:ATG4D, HGNC:HGNC:20789, HumanCyc Gene:HS13349, ModBase:Q86TL0, NCBI Gene:84971, OMIM:611340, RefSeq DNA:NT_011295, RefSeq Protein:NP_116274, RefSeq RNA:NM_032885, UniProtKB:Q86TL0, UniProtKB:Q969K0 No chr19 10654570 10664099 10543894 10553423 +PA24880 9474 HGNC:589 ENSG00000057663 autophagy related 5 ATG5 APG5, APG5L, ASP, hAPG5 Yes Yes Comparative Toxicogenomics Database:9474, Ensembl:ENSG00000057663, GenAtlas:ATG5, GeneCard:ATG5, HGNC:HGNC:589, HumanCyc Gene:HS00712, ModBase:Q9H1Y0, NCBI Gene:9474, OMIM:604261, RefSeq DNA:NT_025741, RefSeq Protein:NP_004840, RefSeq RNA:NM_004849, UCSC Genome Browser:NM_004849, UniProtKB:A9UGY9, UniProtKB:Q9H1Y0 No chr6 106632351 106773695 106184476 106325820 +PA134983397 10533 HGNC:16935 ENSG00000197548 autophagy related 7 ATG7 ubiquitin-activating enzyme E1-like protein APG7L, DKFZp434N0735, GSA7 Yes No Comparative Toxicogenomics Database:10533, Ensembl:ENSG00000197548, GeneCard:ATG7, HGNC:HGNC:16935, ModBase:O95352, NCBI Gene:10533, OMIM:608760, RefSeq DNA:NT_022517, RefSeq Protein:NP_001129503, RefSeq Protein:NP_001138384, RefSeq Protein:NP_006386, RefSeq RNA:NM_001136031, RefSeq RNA:NM_001144912, RefSeq RNA:NM_006395, UniProtKB:B4E170, UniProtKB:O95352 No chr3 11314010 11599139 11272324 11564704 +PA134931318 79065 HGNC:22408 ENSG00000198925 autophagy related 9A ATG9A APG9L1, FLJ22169 Yes No Ensembl:ENSG00000198925, GeneCard:ATG9A, HGNC:HGNC:22408, NCBI Gene:79065, OMIM:612204, RefSeq DNA:NT_005403, RefSeq Protein:NP_001070666, RefSeq Protein:NP_076990, RefSeq RNA:NM_001077198, RefSeq RNA:NM_024085, UniProtKB:Q7Z3C6 No chr2 220084102 220094387 219219380 219229688 +PA134883165 285973 HGNC:21899 ENSG00000181652 autophagy related 9B ATG9B APG9L2, FLJ14885, NOS3AS, SONE Yes No Ensembl:ENSG00000181652, GeneCard:ATG9B, HGNC:HGNC:21899, HumanCyc Gene:HS17712, NCBI Gene:285973, OMIM:612205, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_775952, RefSeq RNA:NM_173681, UniProtKB:Q674R7 No chr7 150709297 150721586 151012209 151024499 +PA25094 471 HGNC:794 ENSG00000138363 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ATIC phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase AICARFT, IMPCHASE, PURH Yes Yes Comparative Toxicogenomics Database:471, Ensembl:ENSG00000138363, GenAtlas:ATIC, GeneCard:ATIC, HGNC:HGNC:794, HumanCyc Gene:HS06490, ModBase:P31939, NCBI Gene:471, OMIM:601731, OMIM:608688, RefSeq DNA:NG_013002, RefSeq DNA:NT_005403, RefSeq Protein:NP_004035, RefSeq RNA:NM_004044, UCSC Genome Browser:NM_004044, UniProtKB:P31939 No chr2 216176679 216214496 215311956 215359745 +PA36061 51062 HGNC:11231 ENSG00000198513 atlastin GTPase 1 ATL1 atlastin AD-FSP, FSP1, SPG3, SPG3A Yes No Comparative Toxicogenomics Database:51062, Ensembl:ENSG00000198513, GenAtlas:SPG3A, GeneCard:ATL1, GeneCard:SPG3A, HGNC:HGNC:11231, NCBI Gene:51062, OMIM:182600, OMIM:606439, RefSeq DNA:NG_009028, RefSeq DNA:NT_026437, RefSeq Protein:NP_001121185, RefSeq Protein:NP_056999, RefSeq Protein:NP_853629, RefSeq RNA:NM_001127713, RefSeq RNA:NM_015915, RefSeq RNA:NM_181598, UCSC Genome Browser:NM_015915, UniProtKB:Q53F53, UniProtKB:Q69YH7, UniProtKB:Q8WXF7 No chr14 50999800 51099786 50533082 50633068 +PA164716322 64225 HGNC:24047 ENSG00000119787 atlastin GTPase 2 ATL2 Atlastin-2 ARL6IP2, atlastin2 Yes Yes Ensembl:ENSG00000119787, GeneCard:ATL2, HGNC:HGNC:24047, HumanCyc Gene:HS12957, NCBI Gene:64225, OMIM:609368, RefSeq DNA:NT_022184, RefSeq Protein:NP_001129145, RefSeq Protein:NP_071769, RefSeq RNA:NM_001135673, RefSeq RNA:NM_022374, RefSeq RNA:NR_024191, UniProtKB:Q8NHH9 No chr2 38522027 38604432 38293957 38378579 +PA164716353 25923 HGNC:24526 ENSG00000184743 atlastin GTPase 3 ATL3 DKFZP564J0863 Yes No Ensembl:ENSG00000184743, GeneCard:ATL3, HGNC:HGNC:24526, ModBase:Q6DD88, NCBI Gene:25923, OMIM:609369, RefSeq DNA:NT_167190, RefSeq Protein:NP_056274, RefSeq RNA:NM_015459, UniProtKB:Q6DD88 No chr11 63391554 63439533 63624082 63671974 +PA61 472 HGNC:795 ENSG00000149311 ATM serine/threonine kinase ATM """TEL1, telomere maintenance 1, homolog (S. cerevisiae)"", ""ataxia telangiectasia mutated""" ATA, ATC, ATD, ATDC, TEL1, TELO1 Yes Yes Comparative Toxicogenomics Database:472, Ensembl:ENSG00000149311, GenAtlas:ATM, GeneCard:ATM, HGNC:HGNC:795, HumanCyc Gene:HS07604, ModBase:Q13315, NCBI Gene:472, OMIM:114480, OMIM:208900, OMIM:607585, RefSeq DNA:NG_009830, RefSeq DNA:NT_033899, RefSeq Protein:NP_000042, RefSeq Protein:NP_612149, RefSeq RNA:NM_000051, RefSeq RNA:NM_138292, UCSC Genome Browser:NM_000051, UniProtKB:Q13315 No chr11 108093559 108239829 108222484 108369102 +PA162377191 23300 HGNC:29034 ENSG00000166454 ATM interactor ATMIN ATM INteracting protein, ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein ASCIZ, KIAA0431, ZNF822 Yes No Ensembl:ENSG00000166454, GeneCard:ATMIN, HGNC:HGNC:29034, HumanCyc Gene:HS15449, ModBase:O43313, NCBI Gene:23300, RefSeq DNA:NT_010498, RefSeq Protein:NP_056066, RefSeq RNA:NM_015251, UniProtKB:O43313 No chr16 81069458 81080955 81035853 81047346 +PA27487 1822 HGNC:3033 ENSG00000111676 atrophin 1 ATN1 B37, D12S755E, DRPLA Yes No Comparative Toxicogenomics Database:1822, Ensembl:ENSG00000111676, GenAtlas:ATN1, GeneCard:ATN1, HGNC:HGNC:3033, HumanCyc Gene:HS03445, ModBase:P54259, NCBI Gene:1822, OMIM:125370, OMIM:607462, RefSeq DNA:NG_008047, RefSeq DNA:NT_009759, RefSeq Protein:NP_001007027, RefSeq Protein:NP_001931, RefSeq RNA:NM_001007026, RefSeq RNA:NM_001940, UCSC Genome Browser:NM_001940, UniProtKB:P54259, UniProtKB:Q86V38 No chr12 7033626 7051484 6924463 6942321 +PA25095 474 HGNC:797 ENSG00000172238 atonal bHLH transcription factor 1 ATOH1 atonal homolog 1 (Drosophila), basic helix-loop-helix family member a14 HATH1, MATH-1, Math1, bHLHa14 Yes No Ensembl:ENSG00000172238, GenAtlas:ATOH1, GeneCard:ATOH1, HGNC:HGNC:797, HumanCyc Gene:HS10476, ModBase:Q92858, NCBI Gene:474, OMIM:601461, RefSeq DNA:NT_016354, RefSeq Protein:NP_005163, RefSeq RNA:NM_005172, UCSC Genome Browser:NM_005172, UniProtKB:Q92858 No chr4 94750078 94751142 93828927 93829991 +PA38369 220202 HGNC:13907 ENSG00000179774 atonal bHLH transcription factor 7 ATOH7 atonal homolog 7 (Drosophila) Math5, bHLHa13 Yes No Ensembl:ENSG00000179774, GenAtlas:ATOH7, GeneCard:ATOH7, HGNC:HGNC:13907, HumanCyc Gene:HS17353, ModBase:Q8N100, NCBI Gene:220202, OMIM:609875, RefSeq DNA:NT_030059, RefSeq Protein:NP_660161, RefSeq RNA:NM_145178, UCSC Genome Browser:NM_145178, UniProtKB:Q8N100 No chr10 69990352 69991870 68230595 68232113 +PA134904746 84913 HGNC:24126 ENSG00000168874 atonal bHLH transcription factor 8 ATOH8 atonal homolog 8 (Drosophila), basic helix loop helix transcription factor 6 FLJ14708, HATH6, bHLHa21 Yes No Comparative Toxicogenomics Database:84913, Ensembl:ENSG00000168874, GeneCard:ATOH8, HGNC:HGNC:24126, HumanCyc Gene:HS15718, ModBase:Q96SQ7, NCBI Gene:84913, RefSeq DNA:NT_022184, RefSeq Protein:NP_116216, RefSeq RNA:NM_032827, UniProtKB:Q96SQ7 No chr2 85980909 86018506 85753786 85791383 +PA142671609 56204 HGNC:25609 ENSG00000047346 atos homolog A ATOSA """family with sequence similarity 214 member A"", ""family with sequence similarity 214, member A""" FAM214A, FLJ10980, KIAA1370 Yes No Ensembl:ENSG00000047346, GeneCard:KIAA1370, HGNC:HGNC:25609, ModBase:Q32MH5, NCBI Gene:56204, RefSeq DNA:NT_010194, RefSeq Protein:NP_062546, RefSeq RNA:NM_019600, UniProtKB:Q32MH5 No chr15 52873518 52971569 52581321 52709817 +PA134880815 80256 HGNC:25666 ENSG00000005238 atos homolog B ATOSB """family with sequence similarity 214 member B"", ""family with sequence similarity 214, member B""" FAM214B, FLJ11560, KIAA1539, bA182N22.6 Yes No Ensembl:ENSG00000005238, GeneCard:KIAA1539, HGNC:HGNC:25666, HumanCyc Gene:HS12003, ModBase:Q7L5A3, NCBI Gene:80256, RefSeq DNA:NT_008413, RefSeq Protein:NP_079458, RefSeq RNA:NM_025182, UniProtKB:Q7L5A3 No chr9 35104118 35116338 35104121 35116350 +PA25096 475 HGNC:798 ENSG00000177556 antioxidant 1 copper chaperone ATOX1 HAH1 Yes No Comparative Toxicogenomics Database:475, Ensembl:ENSG00000177556, GenAtlas:ATOX1, GeneCard:ATOX1, HGNC:HGNC:798, HumanCyc Gene:HS11186, ModBase:O00244, NCBI Gene:475, OMIM:602270, RefSeq DNA:NT_029289, RefSeq Protein:NP_004036, RefSeq RNA:NM_004045, UCSC Genome Browser:NM_004045, UniProtKB:O00244 No chr5 151122383 151138210 151742822 151758649 +PA25097 57194 HGNC:13542 ENSG00000206190 ATPase phospholipid transporting 10A (putative) ATP10A ATPase, class V, type 10A ATP10C, ATPVA, ATPVC, KIAA0566 Yes Yes Ensembl:ENSG00000206190, GenAtlas:ATP10A, GeneCard:ATP10A, HGNC:HGNC:13542, HumanCyc Gene:HS03738, ModBase:O60312, NCBI Gene:57194, OMIM:605855, RefSeq DNA:NG_009282, RefSeq DNA:NT_026446, RefSeq Protein:NP_077816, RefSeq RNA:NM_024490, UCSC Genome Browser:NM_024490, UniProtKB:O60312 No chr15 25923859 26110304 25672241 25865144 +PA25098 23120 HGNC:13543 ENSG00000118322 ATPase phospholipid transporting 10B (putative) ATP10B ATPase, class V, type 10B ATPVB, FLJ21477, KIAA0715 Yes No Ensembl:ENSG00000118322, GenAtlas:ATP10B, GeneCard:ATP10B, HGNC:HGNC:13543, HumanCyc Gene:HS04213, ModBase:O94823, NCBI Gene:23120, RefSeq DNA:NT_023133, RefSeq Protein:NP_079429, RefSeq RNA:NM_025153, UniProtKB:O94823 No chr5 159990127 160279219 160563120 160929411 +PA25100 57205 HGNC:13549 ENSG00000145246 ATPase phospholipid transporting 10D (putative) ATP10D ATPase, class V, type 10D ATPVD, KIAA1487 Yes No Comparative Toxicogenomics Database:57205, Ensembl:ENSG00000145246, GenAtlas:ATP10D, GeneCard:ATP10D, HGNC:HGNC:13549, HumanCyc Gene:HS07239, ModBase:Q9P241, NCBI Gene:57205, RefSeq DNA:NT_006238, RefSeq Protein:NP_065186, RefSeq RNA:NM_020453, UCSC Genome Browser:NM_020453, UniProtKB:Q9P241 No chr4 47487296 47595503 47485261 47593486 +PA25101 23250 HGNC:13552 ENSG00000068650 ATPase phospholipid transporting 11A ATP11A """ATPase, class VI, type 11A"", ""phospholipid-translocating ATPase"", ""potential phospholipid-transporting ATPase IH""" ATPIH, ATPIS, KIAA1021 Yes No Comparative Toxicogenomics Database:23250, Ensembl:ENSG00000068650, GenAtlas:ATP11A, GeneCard:ATP11A, HGNC:HGNC:13552, HumanCyc Gene:HS00939, ModBase:P98196, NCBI Gene:23250, OMIM:605868, RefSeq DNA:NT_027140, RefSeq Protein:NP_056020, RefSeq Protein:NP_115565, RefSeq RNA:NM_015205, RefSeq RNA:NM_032189, UCSC Genome Browser:NM_032210, UniProtKB:P98196, UniProtKB:Q659C3, UniProtKB:Q6PJ25 No chr13 113344358 113541482 112690034 112887168 +PA162378074 400165 HGNC:33793 ENSG00000197595 ATP11A upstream neighbor ATP11AUN C13orf35, chromosome 13 open reading frame 35, small blood protein 1 FLJ26443, SMABLO1 Yes No Ensembl:ENSG00000197595, GeneCard:C13orf35, HGNC:HGNC:33793, NCBI Gene:400165, RefSeq DNA:NT_027140, RefSeq Protein:NP_997323, RefSeq RNA:NM_207440, UniProtKB:Q6ZP68 No chr13 113301358 113338811 112647044 112684497 +PA25102 23200 HGNC:13553 ENSG00000058063 ATPase phospholipid transporting 11B (putative) ATP11B ATPase, class VI, type 11B ATPIF, ATPIR, KIAA0956 Yes No Ensembl:ENSG00000058063, GenAtlas:ATP11B, GeneCard:ATP11B, HGNC:HGNC:13553, HumanCyc Gene:HS00716, ModBase:Q9Y2G3, NCBI Gene:23200, OMIM:605869, RefSeq DNA:NT_005612, RefSeq Protein:NP_055431, RefSeq RNA:NM_014616, UniProtKB:Q9Y2G3 No chr3 182511291 182639423 182793503 182923010 +PA25103 286410 HGNC:13554 ENSG00000101974 ATPase phospholipid transporting 11C ATP11C ATPase, class VI, type 11C ATPIG, ATPIQ Yes No Comparative Toxicogenomics Database:286410, Ensembl:ENSG00000101974, GenAtlas:ATP11C, GeneCard:ATP11C, HGNC:HGNC:13554, ModBase:Q6ZUP7, NCBI Gene:286410, OMIM:300516, RefSeq DNA:NG_016550, RefSeq DNA:NT_011786, RefSeq Protein:NP_001010986, RefSeq Protein:NP_775965, RefSeq RNA:NM_001010986, RefSeq RNA:NM_173694, UniProtKB:Q8NB49 No chrX 138808505 139015190 139726346 139933083 +PA25104 479 HGNC:13816 ENSG00000075673 ATPase H+/K+ transporting non-gastric alpha2 subunit ATP12A """ATPase, H+/K+ transporting, nongastric, alpha polypeptide"", ""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""sodium/potassium ATPase, alpha polypeptide-like""" #945, 2, ATP1AL1, H-K-ATPase, HK Yes No Ensembl:ENSG00000075673, GenAtlas:ATP12A, GeneCard:ATP12A, HGNC:HGNC:13816, HumanCyc Gene:HS01186, ModBase:P54707, NCBI Gene:479, OMIM:182360, RefSeq DNA:NT_024524, RefSeq Protein:NP_001172014, RefSeq Protein:NP_001667, RefSeq RNA:NM_001185085, RefSeq RNA:NM_001676, UCSC Genome Browser:NM_001676, UniProtKB:P54707 No chr13 25254549 25285923 24680411 24711785 +PA134988892 57130 HGNC:24215 ENSG00000105726 ATPase 13A1 ATP13A1 ATPase type 13A1, cation transporting ATPase ATP13A, CGI-152, FLJ31858, KIAA1825 Yes No Comparative Toxicogenomics Database:57130, Ensembl:ENSG00000105726, GeneCard:ATP13A1, HGNC:HGNC:24215, HumanCyc Gene:HS02807, ModBase:Q9HD20, NCBI Gene:57130, RefSeq DNA:NT_011295, RefSeq Protein:NP_065143, RefSeq RNA:NM_020410, UniProtKB:Q9HD20 No chr19 19756007 19774512 19645198 19663694 +PA134897221 23400 HGNC:30213 ENSG00000159363 ATPase cation transporting 13A2 ATP13A2 ATPase type 13A2 CLN12, HSA9947, PARK9 Yes No Comparative Toxicogenomics Database:23400, Ensembl:ENSG00000159363, GeneCard:ATP13A2, HGNC:HGNC:30213, HumanCyc Gene:HS08393, ModBase:Q9NQ11, NCBI Gene:23400, OMIM:606693, OMIM:610513, RefSeq DNA:NG_009054, RefSeq DNA:NT_004610, RefSeq Protein:NP_001135445, RefSeq Protein:NP_001135446, RefSeq Protein:NP_071372, RefSeq RNA:NM_001141973, RefSeq RNA:NM_001141974, RefSeq RNA:NM_022089, UniProtKB:Q5JXY1, UniProtKB:Q6S9Z9, UniProtKB:Q9NQ11 No chr1 17312453 17338467 16985958 17011972 +PA134971145 79572 HGNC:24113 ENSG00000133657 ATPase 13A3 ATP13A3 ATPase family homolog up regulated in senescence cells, ATPase type 13A3, Polyamine-transporting ATPase 13A3 AFURS1 Yes No Comparative Toxicogenomics Database:79572, Ensembl:ENSG00000133657, GeneCard:ATP13A3, HGNC:HGNC:24113, HumanCyc Gene:HS05776, ModBase:Q9H7F0, NCBI Gene:79572, OMIM:610232, RefSeq DNA:NT_029928, RefSeq Protein:NP_078800, RefSeq RNA:NM_024524, UniProtKB:Q9H7F0 No chr3 194123403 194188968 194402674 194487006 +PA134979581 84239 HGNC:25422 ENSG00000127249 ATPase 13A4 ATP13A4 ATPase type 13A4 DKFZp761I1011, FLJ37958 Yes No Ensembl:ENSG00000127249, GeneCard:ATP13A4, HGNC:HGNC:25422, NCBI Gene:84239, OMIM:609556, RefSeq DNA:NT_005612, RefSeq Protein:NP_115655, RefSeq RNA:NM_032279, UniProtKB:B3KU47, UniProtKB:Q4VNC1 No chr3 193119866 193272810 193398967 193581725 +PA134952038 344905 HGNC:31789 ENSG00000187527 ATPase 13A5 ATP13A5 ATPase type 13A5 FLJ16025 Yes No Ensembl:ENSG00000187527, GeneCard:ATP13A5, HGNC:HGNC:31789, ModBase:Q4VNC0, NCBI Gene:344905, RefSeq DNA:NT_005612, RefSeq Protein:NP_940907, RefSeq RNA:NM_198505, UniProtKB:Q4VNC0 No chr3 192992831 193096514 193274789 193378824 +PA62 476 HGNC:799 ENSG00000163399 ATPase Na+/K+ transporting subunit alpha 1 ATP1A1 """ATPase, Na+/K+ transporting, alpha 1 polypeptide"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"", ""sodium/potassium-transporting ATPase subunit alpha-1""" Yes No Comparative Toxicogenomics Database:476, Ensembl:ENSG00000163399, GenAtlas:ATP1A1, GeneCard:ATP1A1, HGNC:HGNC:799, HumanCyc Gene:HS08843, ModBase:P05023, NCBI Gene:476, OMIM:182310, RefSeq DNA:NT_032977, RefSeq Protein:NP_000692, RefSeq Protein:NP_001001586, RefSeq Protein:NP_001153705, RefSeq Protein:NP_001153706, RefSeq RNA:NM_000701, RefSeq RNA:NM_001001586, RefSeq RNA:NM_001160233, RefSeq RNA:NM_001160234, UCSC Genome Browser:NM_000701, UniProtKB:B7Z2T5, UniProtKB:B7Z3U6, UniProtKB:P05023 No chr1 116914802 116948069 116373173 116404774 +PA30796 477 HGNC:800 ENSG00000018625 ATPase Na+/K+ transporting subunit alpha 2 ATP1A2 """ATPase, Na+/K+ transporting, alpha 2 polypeptide"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"", ""sodium/potassium-transporting ATPase subunit alpha-2""" FHM2, MHP2 Yes Yes Comparative Toxicogenomics Database:477, Ensembl:ENSG00000018625, GenAtlas:ATP1A2, GeneCard:ATP1A2, HGNC:HGNC:800, HumanCyc Gene:HS00391, ModBase:P50993, NCBI Gene:477, OMIM:104290, OMIM:182340, OMIM:602481, RefSeq DNA:NG_008014, RefSeq DNA:NT_004487, RefSeq Protein:NP_000693, RefSeq RNA:NM_000702, UCSC Genome Browser:NM_000702, UniProtKB:P50993 No chr1 160085520 160113381 160115730 160143591 +PA64 478 HGNC:801 ENSG00000105409 ATPase Na+/K+ transporting subunit alpha 3 ATP1A3 """ATPase, Na+/K+ transporting, alpha 3 polypeptide"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"", ""sodium/potassium-transporting ATPase subunit alpha-3""" DYT12 Yes No Comparative Toxicogenomics Database:478, Ensembl:ENSG00000105409, GenAtlas:ATP1A3, GeneCard:ATP1A3, HGNC:HGNC:801, HumanCyc Gene:HS02735, ModBase:P13637, NCBI Gene:478, OMIM:128235, OMIM:182350, RefSeq DNA:NG_008015, RefSeq DNA:NT_011109, RefSeq Protein:NP_689509, RefSeq RNA:NM_152296, UCSC Genome Browser:NM_000703, UCSC Genome Browser:NM_152296, UniProtKB:B3KNQ8, UniProtKB:P13637 No chr19 42470628 42498428 41966582 41994276 +PA65 480 HGNC:14073 ENSG00000132681 ATPase Na+/K+ transporting subunit alpha 4 ATP1A4 """ATPase, Na+/K+ transporting, alpha 4 polypeptide"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"", ""sodium/potassium-transporting ATPase subunit alpha-4""" ATP1AL2 Yes No Comparative Toxicogenomics Database:480, Ensembl:ENSG00000132681, GenAtlas:ATP1A4, GeneCard:ATP1A4, HGNC:HGNC:14073, HumanCyc Gene:HS05675, ModBase:Q13733, NCBI Gene:480, OMIM:607321, RefSeq DNA:NT_004487, RefSeq Protein:NP_001001734, RefSeq Protein:NP_653300, RefSeq RNA:NM_001001734, RefSeq RNA:NM_144699, UniProtKB:Q13733 No chr1 160121352 160156767 160151562 160186977 +PA66 481 HGNC:804 ENSG00000143153 ATPase Na+/K+ transporting subunit beta 1 ATP1B1 """ATPase, Na+/K+ transporting, beta 1 polypeptide"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"", ""sodium/potassium-transporting ATPase subunit beta-1""" ATP1B Yes No Comparative Toxicogenomics Database:481, Ensembl:ENSG00000143153, GenAtlas:ATP1B1, GeneCard:ATP1B1, HGNC:HGNC:804, HumanCyc Gene:HS06994, ModBase:P05026, NCBI Gene:481, OMIM:145500, OMIM:182330, RefSeq DNA:NG_023230, RefSeq DNA:NT_004487, RefSeq Protein:NP_001001787, RefSeq Protein:NP_001668, RefSeq RNA:NM_001001787, RefSeq RNA:NM_001677, UCSC Genome Browser:NM_001677, UniProtKB:A3KLL5, UniProtKB:P05026 No chr1 169075947 169101960 169106709 169132722 +PA70 485 HGNC:809 ENSG00000249212 ATPase, Na+/K+ transporting, beta 1 polypeptide pseudogene 1 ATP1B1P1 Yes No Ensembl:ENSG00000249212, GenAtlas:ATP1BL1, GeneCard:ATP1B1P1, HGNC:HGNC:809, NCBI Gene:485, OMIM:182370, RefSeq DNA:NG_001081, RefSeq DNA:NT_006238 No chr4 42031102 42033282 42029085 42031265 +PA67 482 HGNC:805 ENSG00000129244 ATPase Na+/K+ transporting subunit beta 2 ATP1B2 """ATPase, Na+/K+ transporting, beta 2 polypeptide"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"", ""sodium/potassium-transporting ATPase subunit beta-2""" AMOG Yes No Comparative Toxicogenomics Database:482, Ensembl:ENSG00000129244, GenAtlas:ATP1B2, GeneCard:ATP1B2, HGNC:HGNC:805, HumanCyc Gene:HS05260, ModBase:P14415, NCBI Gene:482, OMIM:182331, RefSeq DNA:NT_010718, RefSeq Protein:NP_001669, RefSeq RNA:NM_001678, UCSC Genome Browser:NM_001678, UniProtKB:P14415 No chr17 7554254 7561089 7646627 7657771 +PA68 483 HGNC:806 ENSG00000069849 ATPase Na+/K+ transporting subunit beta 3 ATP1B3 """ATPase, Na+/K+ transporting, beta 3 polypeptide"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"", ""sodium/potassium-transporting ATPase subunit beta-3""" CD298, FLJ29027 Yes No Comparative Toxicogenomics Database:483, Ensembl:ENSG00000069849, GenAtlas:ATP1B3, GeneCard:ATP1B3, HGNC:HGNC:806, HumanCyc Gene:HS00972, NCBI Gene:483, OMIM:601867, RefSeq DNA:NT_005612, RefSeq Protein:NP_001670, RefSeq RNA:NM_001679, UCSC Genome Browser:NM_001679, UniProtKB:P54709 No chr3 141595424 141645382 141876628 141926540 +PA69 484 HGNC:807 ENSG00000271707 ATPase, Na+/K+ transporting, beta 3 pseudogene ATP1B3P1 Yes No Ensembl:ENSG00000271707, GenAtlas:ATP1B3P1, GeneCard:ATP1B3P1, HGNC:HGNC:807, NCBI Gene:484, RefSeq DNA:NG_000849, RefSeq DNA:NT_022184 No chr2 60961525 60963062 60734390 60735927 +PA410 23439 HGNC:808 ENSG00000101892 ATPase Na+/K+ transporting family member beta 4 ATP1B4 """ATPase, Na+/K+ transporting, beta 4 polypeptide"", ""BetaM"", ""Na,K-ATPase beta m-subunit""" Yes No Ensembl:ENSG00000101892, GenAtlas:ATP1B4, GeneCard:ATP1B4, HGNC:HGNC:808, HumanCyc Gene:HS02315, NCBI Gene:23439, RefSeq DNA:NG_016773, RefSeq DNA:NT_011786, RefSeq Protein:NP_001135919, RefSeq Protein:NP_036201, RefSeq RNA:NM_001142447, RefSeq RNA:NM_012069, UCSC Genome Browser:NM_012069, UniProtKB:Q9UN42 No chrX 119495940 119517104 120362085 120383249 +PA142670557 91419 HGNC:29452 ENSG00000166896 ATP23 metallopeptidase and ATP synthase assembly factor homolog ATP23 Ku70 binding protein 3, XRCC6 binding protein 1 KUB3, XRCC6BP1 Yes No Ensembl:ENSG00000166896, GeneCard:XRCC6BP1, HGNC:HGNC:29452, ModBase:Q9Y6H3, NCBI Gene:91419, RefSeq DNA:NT_029419, RefSeq Protein:NP_150592, RefSeq RNA:NM_033276, UniProtKB:Q9Y6H3 No chr12 58335324 58351052 57941504 57957269 +PA25105 487 HGNC:811 ENSG00000196296 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ATP2A1 """ATPase, Ca++ transporting, cardiac muscle, fast twitch 1"", ""calcium pump 1"", ""sarcoplasmic/endoplasmic reticulum calcium ATPase 1""" ATP2A, SERCA1 Yes No Comparative Toxicogenomics Database:487, Ensembl:ENSG00000196296, GenAtlas:ATP2A1, GeneCard:ATP2A1, HGNC:HGNC:811, HumanCyc Gene:HS11229, ModBase:O14983, NCBI Gene:487, OMIM:108730, OMIM:601003, RefSeq DNA:NG_023327, RefSeq DNA:NT_010393, RefSeq Protein:NP_004311, RefSeq Protein:NP_775293, RefSeq RNA:NM_004320, RefSeq RNA:NM_173201, UCSC Genome Browser:NM_004320, UniProtKB:B3KY17, UniProtKB:O14983, UniProtKB:Q7Z675 No chr16 28889192 28915830 28878488 28904509 +PA71 488 HGNC:812 ENSG00000174437 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ATP2A2 """ATPase, Ca++ transporting, cardiac muscle, slow twitch 2"", ""calcium pump 2"", ""sarcoplasmic/endoplasmic reticulum calcium ATPase 2""" ATP2B, DAR, SERCA2 Yes No Comparative Toxicogenomics Database:488, Ensembl:ENSG00000174437, GenAtlas:ATP2A2, GeneCard:ATP2A2, HGNC:HGNC:812, HumanCyc Gene:HS10797, ModBase:P16615, NCBI Gene:488, OMIM:101900, OMIM:108740, OMIM:124200, RefSeq DNA:NG_007097, RefSeq DNA:NT_009775, RefSeq Protein:NP_001129237, RefSeq Protein:NP_001672, RefSeq Protein:NP_733765, RefSeq RNA:NM_001135765, RefSeq RNA:NM_001681, RefSeq RNA:NM_170665, UCSC Genome Browser:NM_001681, UniProtKB:P16615 No chr12 110719032 110788898 110281227 110351093 +PA25106 489 HGNC:813 ENSG00000074370 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 ATP2A3 """ATPase, Ca++ transporting, ubiquitous"", ""calcium pump 3"", ""sarcoplasmic/endoplasmic reticulum calcium ATPase 3""" SERCA3 Yes No Comparative Toxicogenomics Database:489, Ensembl:ENSG00000074370, GenAtlas:ATP2A3, GeneCard:ATP2A3, HGNC:HGNC:813, HumanCyc Gene:HS01138, ModBase:Q93084, NCBI Gene:489, OMIM:601929, RefSeq DNA:NT_010718, RefSeq Protein:NP_005164, RefSeq Protein:NP_777613, RefSeq Protein:NP_777614, RefSeq Protein:NP_777615, RefSeq Protein:NP_777616, RefSeq Protein:NP_777617, RefSeq Protein:NP_777618, RefSeq RNA:NM_005173, RefSeq RNA:NM_174953, RefSeq RNA:NM_174954, RefSeq RNA:NM_174955, RefSeq RNA:NM_174956, RefSeq RNA:NM_174957, RefSeq RNA:NM_174958, UCSC Genome Browser:NM_005173, UniProtKB:Q93084 No chr17 3827163 3867758 3923869 3964464 +PA25107 490 HGNC:814 ENSG00000070961 ATPase plasma membrane Ca2+ transporting 1 ATP2B1 """ATPase, Ca++ transporting, plasma membrane 1"", ""plasma membrane calcium-transporting ATPase 1""" PMCA1 Yes Yes Comparative Toxicogenomics Database:490, Ensembl:ENSG00000070961, GenAtlas:ATP2B1, GeneCard:ATP2B1, HGNC:HGNC:814, HumanCyc Gene:HS01020, ModBase:P20020, NCBI Gene:490, OMIM:108731, RefSeq DNA:NT_029419, RefSeq Protein:NP_001001323, RefSeq Protein:NP_001673, RefSeq RNA:NM_001001323, RefSeq RNA:NM_001682, UCSC Genome Browser:NM_001682, UniProtKB:P20020 No chr12 89981826 90103130 89588049 89709353 +PA25108 491 HGNC:815 ENSG00000157087 ATPase plasma membrane Ca2+ transporting 2 ATP2B2 """ATPase, Ca++ transporting, plasma membrane 2"", ""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2""" PMCA2 Yes No Comparative Toxicogenomics Database:491, Ensembl:ENSG00000157087, GenAtlas:ATP2B2, GeneCard:ATP2B2, HGNC:HGNC:815, HumanCyc Gene:HS08176, ModBase:Q01814, NCBI Gene:491, OMIM:108733, OMIM:601386, RefSeq DNA:NG_012046, RefSeq DNA:NT_022517, RefSeq Protein:NP_001001331, RefSeq Protein:NP_001674, RefSeq RNA:NM_001001331, RefSeq RNA:NM_001683, UCSC Genome Browser:NM_001683, UniProtKB:Q01814, UniProtKB:Q4J699, UniProtKB:Q4LE63 No chr3 10365707 10733131 10324023 10707962 +PA25109 492 HGNC:816 ENSG00000067842 ATPase plasma membrane Ca2+ transporting 3 ATP2B3 """ATPase, Ca++ transporting, plasma membrane 3"", ""cilia and flagella associated protein 39"", ""plasma membrane calcium-transporting ATPase 3""" CFAP39, CLA2, PMCA3, SCAX1 Yes No Comparative Toxicogenomics Database:492, Ensembl:ENSG00000067842, GenAtlas:ATP2B3, GeneCard:ATP2B3, HGNC:HGNC:816, HumanCyc Gene:HS00921, ModBase:Q16720, NCBI Gene:492, OMIM:300014, RefSeq DNA:NG_015896, RefSeq DNA:NT_167198, RefSeq Protein:NP_001001344, RefSeq Protein:NP_068768, RefSeq RNA:NM_001001344, RefSeq RNA:NM_021949, UCSC Genome Browser:NM_021949, UniProtKB:Q16720 No chrX 152783905 152848387 153517677 153582929 +PA25110 493 HGNC:817 ENSG00000058668 ATPase plasma membrane Ca2+ transporting 4 ATP2B4 """ATPase, Ca++ transporting, plasma membrane 4"", ""plasma membrane calcium-transporting ATPase 4""" ATP2B2, MXRA1, PMCA4 Yes No Comparative Toxicogenomics Database:493, Ensembl:ENSG00000058668, GenAtlas:ATP2B4, GeneCard:ATP2B4, HGNC:HGNC:817, HumanCyc Gene:HS00723, ModBase:P23634, NCBI Gene:493, OMIM:108732, RefSeq DNA:NT_004487, RefSeq Protein:NP_001001396, RefSeq Protein:NP_001675, RefSeq RNA:NM_001001396, RefSeq RNA:NM_001684, UCSC Genome Browser:NM_001684, UniProtKB:B1APW5, UniProtKB:P23634 No chr1 203595915 203713209 203626787 203744081 +PA25111 27032 HGNC:13211 ENSG00000017260 ATPase secretory pathway Ca2+ transporting 1 ATP2C1 """ATPase, Ca++ transporting, type 2C, member 1"", ""calcium-transporting ATPase type 2C member 1"", ""secretory pathway Ca2+/Mn2+ ATPase 1""" ATP2C1A, BCPM, KIAA1347, PMR1, SPCA1 Yes No Comparative Toxicogenomics Database:27032, Ensembl:ENSG00000017260, GenAtlas:ATP2C1, GeneCard:ATP2C1, HGNC:HGNC:13211, HumanCyc Gene:HS00380, ModBase:P98194, NCBI Gene:27032, OMIM:169600, OMIM:604384, RefSeq DNA:NG_007379, RefSeq DNA:NT_005612, RefSeq Protein:NP_001001485, RefSeq Protein:NP_001001486, RefSeq Protein:NP_001001487, RefSeq Protein:NP_001186108, RefSeq Protein:NP_001186109, RefSeq Protein:NP_001186110, RefSeq Protein:NP_001186111, RefSeq Protein:NP_001186112, RefSeq Protein:NP_001186113, RefSeq Protein:NP_001186114, RefSeq Protein:NP_055197, RefSeq RNA:NM_001001485, RefSeq RNA:NM_001001486, RefSeq RNA:NM_001001487, RefSeq RNA:NM_001199179, RefSeq RNA:NM_001199180, RefSeq RNA:NM_001199181, RefSeq RNA:NM_001199182, RefSeq RNA:NM_001199183, RefSeq RNA:NM_001199184, RefSeq RNA:NM_001199185, RefSeq RNA:NM_014382, UCSC Genome Browser:NM_014382, UniProtKB:P98194 No chr3 130569327 130735556 130850500 131016712 +PA162377204 9914 HGNC:29103 ENSG00000064270 ATPase secretory pathway Ca2+ transporting 2 ATP2C2 """ATPase, Ca++ transporting, type 2C, member 2"", ""secretory pathway calcium ATPase 2""" KIAA0703, SPCA2 Yes No Ensembl:ENSG00000064270, GeneCard:ATP2C2, HGNC:HGNC:29103, HumanCyc Gene:HS00799, ModBase:O75185, NCBI Gene:9914, OMIM:613082, RefSeq DNA:NT_010498, RefSeq Protein:NP_055676, RefSeq RNA:NM_014861, UniProtKB:O75185, UniProtKB:Q5HYC3 No chr16 84402129 84497793 84368523 84465777 +PA25113 495 HGNC:819 ENSG00000105675 ATPase H+/K+ transporting subunit alpha ATP4A """ATPase, H+/K+ exchanging, alpha polypeptide"", ""H(+)-K(+)-ATPase alpha subunit"", ""gastric H,K-ATPase alpha subunit"", ""proton pump""" ATP6A Yes No Comparative Toxicogenomics Database:495, Ensembl:ENSG00000105675, GenAtlas:ATP4A, GeneCard:ATP4A, HGNC:HGNC:819, HumanCyc Gene:HS02790, ModBase:P20648, NCBI Gene:495, OMIM:137216, RefSeq DNA:NT_011109, RefSeq Protein:NP_000695, RefSeq RNA:NM_000704, UCSC Genome Browser:NM_000704, UniProtKB:P20648, UniProtKB:Q658V6 No chr19 36041095 36054560 35550193 35563658 +PA25114 496 HGNC:820 ENSG00000186009 ATPase H+/K+ transporting subunit beta ATP4B ATPase, H+/K+ exchanging, beta polypeptide ATP6B Yes No Comparative Toxicogenomics Database:496, Ensembl:ENSG00000186009, GenAtlas:ATP4B, GeneCard:ATP4B, HGNC:HGNC:820, ModBase:P51164, NCBI Gene:496, OMIM:137217, RefSeq DNA:NT_027140, RefSeq Protein:NP_000696, RefSeq RNA:NM_000705, UCSC Genome Browser:NM_000705, UniProtKB:P51164 No chr13 114303119 114312513 113648804 113658198 +PA25121 645443 HGNC:829 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3 ATP5A1P3 Yes No GenAtlas:ATP5AP3, GeneCard:ATP5A1P3, HGNC:HGNC:829, NCBI Gene:645443, RefSeq DNA:NG_008672, RefSeq DNA:NT_010498 No chr16 72038802 72040651 72004903 72006752 +PA25126 645560 HGNC:834 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1 ATP5C1P1 Yes No GenAtlas:ATP5C2, GeneCard:ATP5C1P1, HGNC:HGNC:834, NCBI Gene:645560, RefSeq DNA:NG_004656, RefSeq DNA:NT_026437 No chr14 54457649 54458741 53990931 53992023 +PA25115 498 HGNC:823 ENSG00000152234 ATP synthase F1 subunit alpha ATP5F1A ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle ATP5A, ATP5A1, ATP5AL2, ATPM, OMR, ORM, hATP1 Yes No Comparative Toxicogenomics Database:498, Ensembl:ENSG00000152234, GenAtlas:ATP5A1, GeneCard:ATP5A1, HGNC:HGNC:823, HumanCyc Gene:HS07800, ModBase:P25705, NCBI Gene:498, OMIM:164360, RefSeq DNA:NT_010966, RefSeq Protein:NP_001001937, RefSeq Protein:NP_004037, RefSeq RNA:NM_001001937, RefSeq RNA:NM_004046, UCSC Genome Browser:NM_004046, UniProtKB:P25705 No chr18 43664110 43684199 46084144 46104233 +PA25122 506 HGNC:830 ENSG00000110955 ATP synthase F1 subunit beta ATP5F1B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide ATP5B, ATPSB Yes No Comparative Toxicogenomics Database:506, Ensembl:ENSG00000110955, GenAtlas:ATP5B, GeneCard:ATP5B, HGNC:HGNC:830, HumanCyc Gene:HS03358, ModBase:P06576, NCBI Gene:506, OMIM:102910, RefSeq DNA:NT_029419, RefSeq Protein:NP_001677, RefSeq RNA:NM_001686, UCSC Genome Browser:NM_001686, UniProtKB:P06576 No chr12 57031959 57039852 56638175 56646068 +PA25125 509 HGNC:833 ENSG00000165629 ATP synthase F1 subunit gamma ATP5F1C ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 ATP5C, ATP5C1, ATP5CL1 Yes No Comparative Toxicogenomics Database:509, Ensembl:ENSG00000165629, GenAtlas:ATP5C1, GeneCard:ATP5C1, HGNC:HGNC:833, HumanCyc Gene:HS09257, ModBase:P36542, NCBI Gene:509, OMIM:108729, RefSeq DNA:NT_008705, RefSeq Protein:NP_001001973, RefSeq Protein:NP_005165, RefSeq RNA:NM_001001973, RefSeq RNA:NM_005174, UCSC Genome Browser:NM_005174, UniProtKB:P36542, UniProtKB:Q6I9V2, UniProtKB:Q8TAS0 No chr10 7830093 7849764 7788104 7807801 +PA25127 513 HGNC:837 ENSG00000099624 ATP synthase F1 subunit delta ATP5F1D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit ATP5D Yes No Comparative Toxicogenomics Database:513, Ensembl:ENSG00000099624, GenAtlas:ATP5D, GeneCard:ATP5D, HGNC:HGNC:837, HumanCyc Gene:HS01900, ModBase:P30049, NCBI Gene:513, OMIM:603150, RefSeq DNA:NT_011255, RefSeq Protein:NP_001001975, RefSeq Protein:NP_001678, RefSeq RNA:NM_001001975, RefSeq RNA:NM_001687, UCSC Genome Browser:NM_001687, UniProtKB:P30049 No chr19 1241749 1244824 1241750 1244825 +PA25128 514 HGNC:838 ENSG00000124172 ATP synthase F1 subunit epsilon ATP5F1E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit ATP5E Yes Yes Comparative Toxicogenomics Database:514, Ensembl:ENSG00000124172, GenAtlas:ATP5E, GeneCard:ATP5E, HGNC:HGNC:838, HumanCyc Gene:HS04727, ModBase:P56381, NCBI Gene:514, OMIM:606153, RefSeq DNA:NT_011362, RefSeq Protein:NP_001001977, RefSeq Protein:NP_008817, RefSeq RNA:NM_001001977, RefSeq RNA:NM_006886, UCSC Genome Browser:NM_006886, UniProtKB:P56381 No chr20 57603733 57607422 59028678 59032367 +PA25173 93974 HGNC:871 ENSG00000130770, ENSG00000249507 ATP synthase inhibitory factor subunit 1 ATP5IF1 ATP synthase inhibitor protein, ATPase inhibitor protein, ATPase inhibitory factor 1 ATPI, ATPIF1, ATPIP, IP, MGC1167, MGC8898 Yes No Comparative Toxicogenomics Database:93974, Ensembl:ENSG00000130770, Ensembl:ENSG00000249507, GenAtlas:ATPIF1, GeneCard:ATPIF1, HGNC:HGNC:871, HumanCyc Gene:HS05441, ModBase:Q9UII2, NCBI Gene:93974, RefSeq DNA:NT_004610, RefSeq Protein:NP_057395, RefSeq Protein:NP_835497, RefSeq Protein:NP_835498, RefSeq RNA:NM_016311, RefSeq RNA:NM_178190, RefSeq RNA:NM_178191, UCSC Genome Browser:NM_016311, UniProtKB:Q6IAQ7, UniProtKB:Q9UII2 No chr1 28562602 28564616 28236091 28238105 +PA25131 516 HGNC:841 ENSG00000159199 ATP synthase membrane subunit c locus 1 ATP5MC1 """ATP synthase subunit 9"", ""ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)"", ""dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit""" ATP5G, ATP5G1 Yes No Comparative Toxicogenomics Database:516, Ensembl:ENSG00000159199, GenAtlas:ATP5G1, GeneCard:ATP5G1, HGNC:HGNC:841, HumanCyc Gene:HS08371, ModBase:P05496, NCBI Gene:516, OMIM:603192, RefSeq DNA:NT_010783, RefSeq Protein:NP_001002027, RefSeq Protein:NP_005166, RefSeq RNA:NM_001002027, RefSeq RNA:NM_005175, UCSC Genome Browser:NM_005175, UniProtKB:P05496, UniProtKB:Q6FIH7 No chr17 46970148 46973233 48892786 48895871 +PA25132 517 HGNC:842 ENSG00000135390 ATP synthase membrane subunit c locus 2 ATP5MC2 """ATP synthase subunit 9"", ""ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)"", ""dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit""" ATP5G2 Yes No Ensembl:ENSG00000135390, GenAtlas:ATP5G2, GeneCard:ATP5G2, HGNC:HGNC:842, HumanCyc Gene:HS05994, ModBase:Q06055, NCBI Gene:517, OMIM:603193, RefSeq DNA:NT_029419, RefSeq Protein:NP_001002031, RefSeq Protein:NP_005167, RefSeq RNA:NM_001002031, RefSeq RNA:NM_005176, UCSC Genome Browser:NM_005176, UniProtKB:Q06055 No chr12 54058944 54070512 53665160 53677546 +PA25133 518 HGNC:843 ENSG00000154518 ATP synthase membrane subunit c locus 3 ATP5MC3 """ATP synthase subunit 9"", ""ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)"", ""dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit""" ATP5G3 Yes No Comparative Toxicogenomics Database:518, Ensembl:ENSG00000154518, GenAtlas:ATP5G3, GeneCard:ATP5G3, HGNC:HGNC:843, HumanCyc Gene:HS07984, ModBase:P48201, NCBI Gene:518, OMIM:602736, RefSeq DNA:NT_005403, RefSeq Protein:NP_001002258, RefSeq Protein:NP_001177258, RefSeq Protein:NP_001680, RefSeq RNA:NM_001002258, RefSeq RNA:NM_001190329, RefSeq RNA:NM_001689, UCSC Genome Browser:NM_001689, UniProtKB:P48201 No chr2 176040986 176046490 175176258 175181762 +PA25136 521 HGNC:846 ENSG00000169020 ATP synthase membrane subunit e ATP5ME ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E ATP5I Yes No Comparative Toxicogenomics Database:521, Ensembl:ENSG00000169020, GenAtlas:ATP5I, GeneCard:ATP5I, HGNC:HGNC:846, HumanCyc Gene:HS09866, NCBI Gene:521, OMIM:601519, RefSeq DNA:NT_037622, RefSeq Protein:NP_009031, RefSeq RNA:NM_007100, RefSeq RNA:NR_033743, UCSC Genome Browser:NM_007100, UniProtKB:P56385 No chr4 666225 668127 672436 674338 +PA25138 9551 HGNC:848 ENSG00000241468 ATP synthase membrane subunit f ATP5MF """ATP synthase f chain, mitochondrial"", ""ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2"", ""F1Fo-ATP synthase complex Fo membrane domain f subunit"", ""F1Fo-ATPase synthase f subunit""" ATP5J2, ATP5JL, F1Fo-ATPase Yes No Ensembl:ENSG00000241468, GenAtlas:ATP5J2, GeneCard:ATP5J2, HGNC:HGNC:848, HumanCyc Gene:HS08550, NCBI Gene:9551, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001003713, RefSeq Protein:NP_001003714, RefSeq Protein:NP_001034267, RefSeq Protein:NP_001177282, RefSeq Protein:NP_001177283, RefSeq Protein:NP_004880, RefSeq RNA:NM_001003713, RefSeq RNA:NM_001003714, RefSeq RNA:NM_001039178, RefSeq RNA:NM_001190353, RefSeq RNA:NM_001190354, RefSeq RNA:NM_004889, UCSC Genome Browser:NM_004889, UniProtKB:A6ND55, UniProtKB:C9J8H9, UniProtKB:P56134, UniProtKB:Q6IBB3 No chr7 99055784 99063824 99458161 99466201 +PA25143 10632 HGNC:14247 ENSG00000167283 ATP synthase membrane subunit g ATP5MG ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G ATP5JG, ATP5L Yes No Comparative Toxicogenomics Database:10632, Ensembl:ENSG00000167283, GenAtlas:ATP5L, GeneCard:ATP5L, HGNC:HGNC:14247, HumanCyc Gene:HS09535, NCBI Gene:10632, RefSeq DNA:NT_033899, RefSeq Protein:NP_006467, RefSeq RNA:NM_006476, RefSeq RNA:NR_033759, UCSC Genome Browser:NM_006476, UniProtKB:O75964 No chr11 118272104 118280562 118401389 118409847 +PA134948694 267020 HGNC:13213 ENSG00000249222 ATP synthase membrane subunit g like ATP5MGL ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 ATP5K2, ATP5L2, dJ222E13.5 Yes No Ensembl:ENSG00000249222, GeneCard:ATP5L2, HGNC:HGNC:13213, NCBI Gene:267020, RefSeq DNA:NG_004718, RefSeq DNA:NT_011520, RefSeq Protein:NP_001159349, RefSeq RNA:NM_001165877, UniProtKB:Q7Z4Y8 No chr22 43035809 43036607 42639803 42640601 +PA166352161 9556 HGNC:1188 ATP synthase membrane subunit j ATP5MJ 6.8 kDa mitochondrial proteolipid, 6.8-kDa proteolipid with N-terminal sequence Met-Leu-Gln (MLQ) 6.8PL, ATP5MPL, C14orf2, MLQ, MP68 Yes No HGNC:HGNC:1188, NCBI Gene:9556 No 0 0 0 0 +PA134968209 84833 HGNC:30889 ATP synthase membrane subunit k ATP5MK ATP synthase membrane subunit DAPIT, Diabetes Associated Protein in Insulin-sensitive Tissues, up-regulated during skeletal muscle growth 5 homolog (mouse) AGP, ATP5MD, DAPIT, MGC14697, USMG5, bA792D24.4 Yes No GeneCard:USMG5, HGNC:HGNC:30889, HumanCyc Gene:HS16271, NCBI Gene:84833, RefSeq DNA:NT_030059, RefSeq Protein:NP_001193355, RefSeq Protein:NP_001193356, RefSeq Protein:NP_116136, RefSeq RNA:NM_001206426, RefSeq RNA:NM_001206427, RefSeq RNA:NM_032747, UniProtKB:Q96IX5 No chr10 105148807 105156270 103389050 103396513 +PA25130 515 HGNC:840 ENSG00000116459 ATP synthase peripheral stalk-membrane subunit b ATP5PB ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 ATP5F1 Yes No Comparative Toxicogenomics Database:515, Ensembl:ENSG00000116459, GenAtlas:ATP5F1, GeneCard:ATP5F1, HGNC:HGNC:840, HumanCyc Gene:HS04013, ModBase:P24539, NCBI Gene:515, OMIM:603270, RefSeq DNA:NT_032977, RefSeq Protein:NP_001679, RefSeq RNA:NM_001688, UCSC Genome Browser:NM_001688, UniProtKB:P24539, UniProtKB:Q08ET0 No chr1 111991467 112004540 111449121 111461918 +PA25135 10476 HGNC:845 ENSG00000167863 ATP synthase peripheral stalk subunit d ATP5PD ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d ATP5H, ATP5JD, ATPQ Yes No Comparative Toxicogenomics Database:10476, Ensembl:ENSG00000167863, GenAtlas:ATP5H, GeneCard:ATP5H, HGNC:HGNC:845, HumanCyc Gene:HS09654, ModBase:O75947, NCBI Gene:10476, RefSeq DNA:NT_010783, RefSeq Protein:NP_001003785, RefSeq Protein:NP_006347, RefSeq RNA:NM_001003785, RefSeq RNA:NM_006356, UCSC Genome Browser:NM_006356, UniProtKB:A0PJH2, UniProtKB:O75947 No chr17 73034955 73043074 75038860 75046979 +PA25137 522 HGNC:847 ENSG00000154723 ATP synthase peripheral stalk subunit F6 ATP5PF """ATP synthase subunit h"", ""ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6"", ""coupling factor 6""" ATP5, ATP5A, ATP5J, ATPM, CF6 Yes No Comparative Toxicogenomics Database:522, Ensembl:ENSG00000154723, GenAtlas:ATP5J, GeneCard:ATP5J, HGNC:HGNC:847, HumanCyc Gene:HS08003, ModBase:P18859, NCBI Gene:522, OMIM:603152, RefSeq DNA:NT_011512, RefSeq Protein:NP_001003696, RefSeq Protein:NP_001003697, RefSeq Protein:NP_001003701, RefSeq Protein:NP_001003703, RefSeq Protein:NP_001676, RefSeq RNA:NM_001003696, RefSeq RNA:NM_001003697, RefSeq RNA:NM_001003701, RefSeq RNA:NM_001003703, RefSeq RNA:NM_001685, UCSC Genome Browser:NM_001685, UniProtKB:P18859, UniProtKB:Q6IB54, UniProtKB:Q6NZ59 No chr21 27096791 27107965 25724480 25735654 +PA25144 539 HGNC:850 ENSG00000241837 ATP synthase peripheral stalk subunit OSCP ATP5PO """ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit"", ""oligomycin sensitivity conferring protein""" ATP5O, ATPO, OSCP Yes No Comparative Toxicogenomics Database:539, Ensembl:ENSG00000241837, GenAtlas:ATP5O, GeneCard:ATP5O, HGNC:HGNC:850, HumanCyc Gene:HS08368, ModBase:P48047, NCBI Gene:539, OMIM:600828, RefSeq DNA:NT_011512, RefSeq Protein:NP_001688, RefSeq RNA:NM_001697, UCSC Genome Browser:NM_001697, UniProtKB:P48047 No chr21 35275757 35288158 33903453 33915854 +PA25145 537 HGNC:868 ENSG00000071553 ATPase H+ transporting accessory protein 1 ATP6AP1 """ATPase, H+ transporting, lysosomal accessory protein 1"", ""X-associated protein 3"", ""vacuolar ATPase subunit S1""" 16A, ATP6IP1, ATP6S1, Ac45, CF2, ORF, VATPS1, XAP-3, XAP3 Yes No Comparative Toxicogenomics Database:537, Ensembl:ENSG00000071553, GeneCard:ATP6AP1, HGNC:HGNC:868, HumanCyc Gene:HS01034, ModBase:Q15904, NCBI Gene:537, OMIM:300197, RefSeq DNA:NT_167198, RefSeq Protein:NP_001174, RefSeq RNA:NM_001183, UCSC Genome Browser:NM_001183, UniProtKB:Q15904, UniProtKB:Q9H0C7 No chrX 153656978 153664862 154428632 154436517 +PA164716384 92270 HGNC:28091 ENSG00000205464 ATPase H+ transporting accessory protein 1 like ATP6AP1L ATPase, H+ transporting, lysosomal accessory protein 1-like Yes No Ensembl:ENSG00000205464, GeneCard:ATP6AP1L, HGNC:HGNC:28091, NCBI Gene:92270, RefSeq DNA:NT_006713, RefSeq Protein:NP_001017971, RefSeq RNA:NM_001017971, UniProtKB:Q52LC2 No chr5 81601166 81614147 82278645 82344294 +PA38523 10159 HGNC:18305 ENSG00000182220 ATPase H+ transporting accessory protein 2 ATP6AP2 """ATPase, H+ transporting, lysosomal accessory protein 2"", ""V-ATPase M8.9 subunit"", ""prorenin receptor"", ""renin receptor""" (P)RR, APT6M8-9, ATP6IP2, ATP6M8-9, M8-9, PRR, RENR Yes No Comparative Toxicogenomics Database:10159, Ensembl:ENSG00000182220, GeneCard:ATP6AP2, HGNC:HGNC:18305, ModBase:Q9UG89, NCBI Gene:10159, OMIM:300423, OMIM:300556, RefSeq DNA:NG_008874, RefSeq DNA:NT_079573, RefSeq Protein:NP_005756, RefSeq RNA:NM_005765, UCSC Genome Browser:NM_005765 No chrX 40440141 40465889 40580964 40606637 +PA25146 535 HGNC:865 ENSG00000033627 ATPase H+ transporting V0 subunit a1 ATP6V0A1 """ATPase, H+ transporting, lysosomal V0 subunit a1"", ""V-ATPase subunit a1"", ""vacuolar proton pump subunit 1""" ATP6N1, ATP6N1A, Stv1, VPP1, Vph1, a1 Yes No Comparative Toxicogenomics Database:535, Ensembl:ENSG00000033627, GenAtlas:ATP6V0A1, GeneCard:ATP6V0A1, HGNC:HGNC:865, HumanCyc Gene:HS00493, NCBI Gene:535, OMIM:192130, RefSeq DNA:NT_010783, RefSeq Protein:NP_001123492, RefSeq Protein:NP_001123493, RefSeq Protein:NP_005168, RefSeq RNA:NM_001130020, RefSeq RNA:NM_001130021, RefSeq RNA:NM_005177, UCSC Genome Browser:NM_005177, UniProtKB:B7Z3B7, UniProtKB:Q53ET5, UniProtKB:Q53X12, UniProtKB:Q5CZH6, UniProtKB:Q93050 No chr17 40610862 40674597 42458844 42522579 +PA38549 23545 HGNC:18481 ENSG00000185344 ATPase H+ transporting V0 subunit a2 ATP6V0A2 """ATPase, H+ transporting, lysosomal V0 subunit a2"", ""V-ATPase subunit a2"", ""V-type proton ATPase 116 kDa subunit a2"", ""infantile malignant osteopetrosis"", ""regeneration and tolerance factor""" ATP6N1D, ATP6a2, J6B7, RTF, Stv1, TJ6, TJ6M, TJ6s, Vph1, a2, a2V Yes No Comparative Toxicogenomics Database:23545, Ensembl:ENSG00000185344, GenAtlas:ATP6V0A2, GeneCard:ATP6V0A2, HGNC:HGNC:18481, ModBase:Q9Y487, NCBI Gene:23545, OMIM:219200, OMIM:278250, OMIM:611716, RefSeq DNA:NG_012743, RefSeq DNA:NT_009755, RefSeq Protein:NP_036595, RefSeq RNA:NM_012463, UCSC Genome Browser:NM_012463, UniProtKB:Q9Y487 No chr12 124196865 124246302 123712318 123761755 +PA25147 50617 HGNC:866 ENSG00000105929 ATPase H+ transporting V0 subunit a4 ATP6V0A4 """ATPase, H+ transporting, lysosomal V0 subunit a4"", ""V-ATPase subunit a4"", ""vacuolar proton pump subunit 2""" ATP6N1B, ATP6N2, RDRTA2, RTA1C, RTADR, Stv1, VPP2, Vph1, a4 Yes No Comparative Toxicogenomics Database:50617, Ensembl:ENSG00000105929, GenAtlas:ATP6V0A4, GeneCard:ATP6V0A4, HGNC:HGNC:866, HumanCyc Gene:HS02830, ModBase:Q9HBG4, NCBI Gene:50617, OMIM:602722, OMIM:605239, RefSeq DNA:NG_008145, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_065683, RefSeq Protein:NP_570855, RefSeq Protein:NP_570856, RefSeq RNA:NM_020632, RefSeq RNA:NM_130840, RefSeq RNA:NM_130841, UCSC Genome Browser:NM_020632, UniProtKB:A4D1R4, UniProtKB:Q32M47, UniProtKB:Q9HBG4 No chr7 138391039 138484305 138706294 138799839 +PA25148 533 HGNC:861 ENSG00000117410 ATPase H+ transporting V0 subunit b ATP6V0B """ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b"", ""V-ATPase subunit b""" ATP6F, HATPL, VMA16 Yes No Ensembl:ENSG00000117410, GenAtlas:ATP6V0B, GeneCard:ATP6V0B, HGNC:HGNC:861, HumanCyc Gene:HS04129, ModBase:Q99437, NCBI Gene:533, OMIM:603717, RefSeq DNA:NT_032977, RefSeq Protein:NP_001034546, RefSeq Protein:NP_004038, RefSeq RNA:NM_001039457, RefSeq RNA:NM_004047, UCSC Genome Browser:NM_004047, UniProtKB:O75787, UniProtKB:Q6IB32, UniProtKB:Q99437 No chr1 44440118 44443972 43974648 43978300 +PA25149 527 HGNC:855 ENSG00000185883 ATPase H+ transporting V0 subunit c ATP6V0C """ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c"", ""V-ATPase subunit c""" ATP6C, ATP6L, ATPL, VATL, Vma3 Yes No Comparative Toxicogenomics Database:527, Ensembl:ENSG00000185883, GenAtlas:ATP6V0C, GeneCard:ATP6V0C, HGNC:HGNC:855, ModBase:P27449, NCBI Gene:527, OMIM:108745, RefSeq DNA:NT_010393, RefSeq Protein:NP_001185498, RefSeq Protein:NP_001685, RefSeq RNA:NM_001198569, RefSeq RNA:NM_001694, UCSC Genome Browser:NM_001694, UniProtKB:P27449 No chr16 2563727 2570224 2513726 2520223 +PA134897567 100132978 HGNC:31323 ENSG00000230201 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 1 ATP6V0CP1 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c (ATP6VOC) pseudogene Yes No Ensembl:ENSG00000230201, GeneCard:ATP6V0CP1, HGNC:HGNC:31323, NCBI Gene:100132978, RefSeq DNA:NG_009542, RefSeq DNA:NT_010718 No chr17 4759757 4760694 4856967 4857399 +PA25150 9114 HGNC:13724 ENSG00000159720 ATPase H+ transporting V0 subunit d1 ATP6V0D1 """ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1"", ""V-ATPase subunit d1""" ATP6D, ATP6DV, P39, VATX, VPATPD, Vma6 Yes No Comparative Toxicogenomics Database:9114, Ensembl:ENSG00000159720, GenAtlas:ATP6V0D1, GeneCard:ATP6V0D1, HGNC:HGNC:13724, HumanCyc Gene:HS08417, ModBase:P61421, NCBI Gene:9114, OMIM:607028, RefSeq DNA:NG_011482, RefSeq DNA:NT_010498, RefSeq Protein:NP_004682, RefSeq RNA:NM_004691, UCSC Genome Browser:NM_004691, UniProtKB:P61421 No chr16 67471917 67515089 67438014 67481186 +PA38516 245972 HGNC:18266 ENSG00000147614 ATPase H+ transporting V0 subunit d2 ATP6V0D2 """ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2"", ""V-ATPase subunit d2""" ATP6D2, FLJ38708, VMA6 Yes No Comparative Toxicogenomics Database:245972, Ensembl:ENSG00000147614, GenAtlas:ATP6V0D2, GeneCard:ATP6V0D2, HGNC:HGNC:18266, HumanCyc Gene:HS07458, ModBase:Q8N8Y2, NCBI Gene:245972, RefSeq DNA:NT_008046, RefSeq Protein:NP_689778, RefSeq RNA:NM_152565, UCSC Genome Browser:NM_152565, UniProtKB:Q8N8Y2 No chr8 87111139 87166454 86098910 86154225 +PA25151 8992 HGNC:863 ENSG00000113732 ATPase H+ transporting V0 subunit e1 ATP6V0E1 """ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1"", ""V-ATPase subunit e1""" ATP6H, ATP6V0E, M9.2 Yes No Ensembl:ENSG00000113732, GenAtlas:ATP6V0E, GeneCard:ATP6V0E, GeneCard:ATP6V0E1, HGNC:HGNC:863, HumanCyc Gene:HS03712, NCBI Gene:8992, OMIM:603931, RefSeq DNA:NT_023133, RefSeq Protein:NP_003936, RefSeq RNA:NM_003945, UCSC Genome Browser:NM_003945, UniProtKB:O15342 No chr5 172410763 172461900 172983760 173034897 +PA162377277 155066 HGNC:21723 ENSG00000171130 ATPase H+ transporting V0 subunit e2 ATP6V0E2 """ATPase, H+ transporting V0 subunit e2"", ""V-ATPase subunit e1""" ATP6V0E2L, C7orf32 Yes No Comparative Toxicogenomics Database:155066, Ensembl:ENSG00000171130, GeneCard:ATP6V0E2, HGNC:HGNC:21723, NCBI Gene:155066, OMIM:611019, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001094062, RefSeq Protein:NP_660265, RefSeq RNA:NM_001100592, RefSeq RNA:NM_145230, UniProtKB:Q8NHE4 No chr7 149570053 149577787 149872968 149880713 +PA25152 523 HGNC:851 ENSG00000114573 ATPase H+ transporting V1 subunit A ATP6V1A """ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A"", ""V-ATPase subunit A"", ""V-type proton ATPase (V-ATPase) catalytic subunit A""" ATP6A1, ATP6V1A1, VA68, VPP2, Vma1 Yes No Comparative Toxicogenomics Database:523, Ensembl:ENSG00000114573, GeneCard:ATP6V1A, HGNC:HGNC:851, HumanCyc Gene:HS03781, ModBase:P38606, NCBI Gene:523, OMIM:607027, RefSeq DNA:NT_005612, RefSeq Protein:NP_001681, RefSeq RNA:NM_001690, UCSC Genome Browser:NM_001690, UniProtKB:P38606 No chr3 113465866 113530905 113747019 113812058 +PA25154 525 HGNC:853 ENSG00000116039 ATPase H+ transporting V1 subunit B1 ATP6V1B1 """ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1"", ""Renal tubular acidosis with deafness"", ""V-ATPase subunit B1""" ATP6B1, RTA1B, VATB, VPP3, Vma2 Yes No Comparative Toxicogenomics Database:525, Ensembl:ENSG00000116039, GenAtlas:ATP6V1B1, GeneCard:ATP6V1B1, HGNC:HGNC:853, HumanCyc Gene:HS03975, ModBase:P15313, NCBI Gene:525, OMIM:192132, OMIM:267300, RefSeq DNA:NG_008016, RefSeq DNA:NT_022184, RefSeq Protein:NP_001683, RefSeq RNA:NM_001692, UCSC Genome Browser:NM_001692, UniProtKB:P15313 No chr2 71162998 71192561 70935868 70965431 +PA25155 526 HGNC:854 ENSG00000147416 ATPase H+ transporting V1 subunit B2 ATP6V1B2 """ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2"", ""V-ATPase subunit B2""" ATP6B2, HO57, VATB, VPP3, Vma2 Yes No Comparative Toxicogenomics Database:526, Ensembl:ENSG00000147416, GenAtlas:ATP6V1B2, GeneCard:ATP6V1B2, HGNC:HGNC:854, HumanCyc Gene:HS07429, ModBase:P21281, NCBI Gene:526, OMIM:606939, RefSeq DNA:NT_167187, RefSeq Protein:NP_001684, RefSeq RNA:NM_001693, UCSC Genome Browser:NM_001693, UniProtKB:P21281 No chr8 20054704 20079207 20197193 20226852 +PA25156 528 HGNC:856 ENSG00000155097 ATPase H+ transporting V1 subunit C1 ATP6V1C1 """ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1"", ""V-ATPase subunit C1""" ATP6C, ATP6D, VATC, Vma5 Yes No Ensembl:ENSG00000155097, GenAtlas:ATP6V1C1, GeneCard:ATP6V1C1, HGNC:HGNC:856, HumanCyc Gene:HS08030, ModBase:P21283, NCBI Gene:528, OMIM:603097, RefSeq DNA:NT_008046, RefSeq Protein:NP_001686, RefSeq RNA:NM_001695, UCSC Genome Browser:NM_001695, UniProtKB:P21283 No chr8 104033248 104085285 103021020 103073057 +PA38514 245973 HGNC:18264 ENSG00000143882 ATPase H+ transporting V1 subunit C2 ATP6V1C2 """ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2"", ""V-ATPase subunit C2""" ATP6C2, VMA5 Yes No Comparative Toxicogenomics Database:245973, Ensembl:ENSG00000143882, GenAtlas:ATP6V1C2, GeneCard:ATP6V1C2, HGNC:HGNC:18264, HumanCyc Gene:HS07123, ModBase:Q8NEY4, NCBI Gene:245973, RefSeq DNA:NT_005334, RefSeq Protein:NP_001034451, RefSeq Protein:NP_653184, RefSeq RNA:NM_001039362, RefSeq RNA:NM_144583, UCSC Genome Browser:NM_144583, UniProtKB:Q8NEY4 No chr2 +PA25157 51382 HGNC:13527 ENSG00000100554 ATPase H+ transporting V1 subunit D ATP6V1D """ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D"", ""V-ATPase subunit D""" ATP6M, VATD, VMA8 Yes No Comparative Toxicogenomics Database:51382, Ensembl:ENSG00000100554, GenAtlas:ATP6V1D, GeneCard:ATP6V1D, HGNC:HGNC:13527, HumanCyc Gene:HS02107, ModBase:Q9Y5K8, NCBI Gene:51382, OMIM:609398, RefSeq DNA:NT_026437, RefSeq Protein:NP_057078, RefSeq RNA:NM_015994, UCSC Genome Browser:NM_015994, UniProtKB:Q9Y5K8 No chr14 67804581 67826720 67337864 67360003 +PA25158 529 HGNC:857 ENSG00000131100 ATPase H+ transporting V1 subunit E1 ATP6V1E1 """ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1"", ""V-ATPase subunit E1""" ATP6E, ATP6E2, ATP6V1E, P31, Vma4 Yes No Comparative Toxicogenomics Database:529, Ensembl:ENSG00000131100, GenAtlas:ATP6V1E1, GeneCard:ATP6V1E1, HGNC:HGNC:857, HumanCyc Gene:HS05489, ModBase:P36543, NCBI Gene:529, OMIM:108746, RefSeq DNA:NG_009214, RefSeq DNA:NT_011519, RefSeq Protein:NP_001034455, RefSeq Protein:NP_001034456, RefSeq Protein:NP_001687, RefSeq RNA:NM_001039366, RefSeq RNA:NM_001039367, RefSeq RNA:NM_001696, UCSC Genome Browser:NM_001696, UniProtKB:A8MUE4, UniProtKB:A8MUN4, UniProtKB:P36543, UniProtKB:Q53Y06 No chr22 18074902 18111588 17592136 17628822 +PA25161 343515 HGNC:859 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 1 ATP6V1E1P1 Yes No GenAtlas:ATP6V1EP1, GeneCard:ATP6V1EP1, HGNC:HGNC:859, NCBI Gene:343515 No chr1 43368903 43369583 42903114 42904112 +PA25160 729435 HGNC:858 ENSG00000256293 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 3 ATP6V1E1P3 Yes No Ensembl:ENSG00000256293, GenAtlas:ATP6V1EL1, GeneCard:ATP6V1E1P3, HGNC:HGNC:858, NCBI Gene:729435, RefSeq DNA:NG_009357, RefSeq DNA:NT_029419, RefSeq RNA:XR_016000, RefSeq RNA:XR_016006, RefSeq RNA:XR_039163 No chr12 64731729 64732685 64337949 64338905 +PA25159 90423 HGNC:18125 ENSG00000250565 ATPase H+ transporting V1 subunit E2 ATP6V1E2 """ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2"", ""V-ATPase subunit E2""" ATP6E1, ATP6EL2, ATP6V1EL2, MGC9341, VMA4 Yes No Ensembl:ENSG00000250565, GenAtlas:ATP6V1E2, GeneCard:ATP6V1E2, HGNC:HGNC:18125, HumanCyc Gene:HS10256, ModBase:Q96A05, NCBI Gene:90423, RefSeq DNA:NT_022184, RefSeq Protein:NP_542384, RefSeq RNA:NM_080653, UCSC Genome Browser:NM_080653, UniProtKB:Q96A05 No chr2 46738986 46769551 46511835 46542557 +PA38421 9296 HGNC:16832 ENSG00000128524 ATPase H+ transporting V1 subunit F ATP6V1F """ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F"", ""V-ATPase subunit F""" ATP6S14, VATF, Vma7 Yes No Comparative Toxicogenomics Database:9296, Ensembl:ENSG00000128524, GenAtlas:ATP6V1F, GeneCard:ATP6V1F, HGNC:HGNC:16832, HumanCyc Gene:HS05192, ModBase:Q16864, NCBI Gene:9296, OMIM:607160, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001185838, RefSeq Protein:NP_004222, RefSeq RNA:NM_001198909, RefSeq RNA:NM_004231, UCSC Genome Browser:NM_004231, UniProtKB:A4D1K0, UniProtKB:Q16864 No chr7 128502857 128505903 128862803 128865849 +PA25163 9550 HGNC:864 ENSG00000136888 ATPase H+ transporting V1 subunit G1 ATP6V1G1 """ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1"", ""V-ATPase subunit G1""" ATP6G, ATP6G1, ATP6GL, ATP6J, DKFZp547P234, Vma10 Yes No Ensembl:ENSG00000136888, GenAtlas:ATP6V1G1, GeneCard:ATP6V1G1, HGNC:HGNC:864, HumanCyc Gene:HS06241, ModBase:O75348, NCBI Gene:9550, OMIM:607296, RefSeq DNA:NT_008470, RefSeq Protein:NP_004879, RefSeq RNA:NM_004888, UCSC Genome Browser:NM_004888, UniProtKB:O75348, UniProtKB:Q6IB33 No chr9 117349994 117361152 114587714 114598872 +PA134883838 319116 HGNC:19816 ENSG00000270371 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1 ATP6V1G1P1 Yes No Ensembl:ENSG00000270371, HGNC:HGNC:19816, NCBI Gene:319116, RefSeq DNA:NG_001019, RefSeq DNA:NG_002497 No chr14 106250833 106252309 105784496 105785972 +PA25164 534 HGNC:862 ENSG00000206445, ENSG00000213760, ENSG00000226850, ENSG00000227587, ENSG00000230900, ENSG00000234668, ENSG00000234920 ATPase H+ transporting V1 subunit G2 ATP6V1G2 """ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2"", ""V-ATPase subunit G2""" ATP6G, ATP6G2, Em:AC004181.3, NG38, Vma10 Yes No Comparative Toxicogenomics Database:534, Ensembl:ENSG00000206445, Ensembl:ENSG00000213760, Ensembl:ENSG00000226850, Ensembl:ENSG00000227587, Ensembl:ENSG00000230900, Ensembl:ENSG00000234668, Ensembl:ENSG00000234920, GenAtlas:ATP6V1G2, GeneCard:ATP6V1G2, HGNC:HGNC:862, HumanCyc Gene:HS10685, ModBase:O95670, NCBI Gene:534, OMIM:606853, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001191007, RefSeq Protein:NP_569730, RefSeq Protein:NP_612139, RefSeq RNA:NM_001204078, RefSeq RNA:NM_130463, RefSeq RNA:NM_138282, UCSC Genome Browser:NM_130463, UniProtKB:B5MEF0, UniProtKB:O95670, UniProtKB:Q2L6F8 No chr6 31512228 31514625 31544451 31546848 +PA38515 127124 HGNC:18265 ENSG00000151418 ATPase H+ transporting V1 subunit G3 ATP6V1G3 """ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3"", ""V-ATPase subunit G3""" ATP6G3, Vma10 Yes No Ensembl:ENSG00000151418, GenAtlas:ATP6V1G3, GeneCard:ATP6V1G3, HGNC:HGNC:18265, HumanCyc Gene:HS07734, ModBase:Q96LB4, NCBI Gene:127124, RefSeq DNA:NT_004487, RefSeq Protein:NP_573569, RefSeq Protein:NP_579872, RefSeq RNA:NM_133262, RefSeq RNA:NM_133326, UCSC Genome Browser:NM_133262, UniProtKB:Q96LB4 No chr1 198492352 198510075 198523222 198540945 +PA38521 51606 HGNC:18303 ENSG00000047249 ATPase H+ transporting V1 subunit H ATP6V1H """ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H"", ""V-ATPase subunit H"", ""vacuolar ATP synthase subunit H""" CGI-11, SFD, SFDalpha, SFDbeta, VMA13 Yes No Comparative Toxicogenomics Database:51606, Ensembl:ENSG00000047249, GenAtlas:ATP6V1H, GeneCard:ATP6V1H, HGNC:HGNC:18303, HumanCyc Gene:HS00586, ModBase:Q9UI12, NCBI Gene:51606, OMIM:608861, RefSeq DNA:NT_008183, RefSeq Protein:NP_057025, RefSeq Protein:NP_998784, RefSeq Protein:NP_998785, RefSeq RNA:NM_015941, RefSeq RNA:NM_213619, RefSeq RNA:NM_213620, UCSC Genome Browser:NM_015941, UniProtKB:B3KUZ7, UniProtKB:Q9UI12 No chr8 54628103 54756099 53715543 53843311 +PA72 538 HGNC:869 ENSG00000165240 ATPase copper transporting alpha ATP7A """ATPase, Cu++ transporting, alpha polypeptide"", ""copper pump 1"", ""copper-transporting ATPase 1""" MNK Yes Yes Comparative Toxicogenomics Database:538, Ensembl:ENSG00000165240, GenAtlas:ATP7A, GeneCard:ATP7A, HGNC:HGNC:869, HumanCyc Gene:HS09205, ModBase:Q04656, NCBI Gene:538, OMIM:300011, OMIM:300489, OMIM:304150, OMIM:309400, RefSeq DNA:NG_013224, RefSeq DNA:NT_011651, RefSeq Protein:NP_000043, RefSeq RNA:NM_000052, UCSC Genome Browser:NM_000052, UniProtKB:Q04656, UniProtKB:Q59HD1, UniProtKB:Q762B6 No chrX 77166194 77305892 77910656 78050395 +PA73 540 HGNC:870 ENSG00000123191 ATPase copper transporting beta ATP7B """ATPase, Cu++ transporting, beta polypeptide"", ""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2""" WND Yes Yes Comparative Toxicogenomics Database:540, Ensembl:ENSG00000123191, GenAtlas:ATP7B, GeneCard:ATP7B, HGNC:HGNC:870, HumanCyc Gene:HS04640, ModBase:P35670, NCBI Gene:540, OMIM:277900, OMIM:606882, RefSeq DNA:NG_008806, RefSeq DNA:NT_024524, RefSeq Protein:NP_000044, RefSeq Protein:NP_001005918, RefSeq RNA:NM_000053, RefSeq RNA:NM_001005918, UCSC Genome Browser:NM_000053, UniProtKB:P35670 No chr13 52506805 52586181 51932669 52012130 +PA25165 10396 HGNC:13531 ENSG00000124406 ATPase phospholipid transporting 8A1 ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 ATPIA Yes No Comparative Toxicogenomics Database:10396, Ensembl:ENSG00000124406, GenAtlas:ATP8A1, GeneCard:ATP8A1, HGNC:HGNC:13531, HumanCyc Gene:HS04767, ModBase:Q9Y2Q0, NCBI Gene:10396, OMIM:609542, RefSeq DNA:NT_006238, RefSeq Protein:NP_001098999, RefSeq Protein:NP_006086, RefSeq RNA:NM_001105529, RefSeq RNA:NM_006095, UCSC Genome Browser:NM_006095, UniProtKB:Q32M35, UniProtKB:Q32M36, UniProtKB:Q9Y2Q0 No chr4 42410390 42659122 42408373 42657134 +PA25166 51761 HGNC:13533 ENSG00000132932 ATPase phospholipid transporting 8A2 ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 ATPIB, ML-1 Yes No Ensembl:ENSG00000132932, GenAtlas:ATP8A2, GeneCard:ATP8A2, HGNC:HGNC:13533, HumanCyc Gene:HS05709, ModBase:Q9NTI2, NCBI Gene:51761, OMIM:605870, RefSeq DNA:NT_024524, RefSeq Protein:NP_057613, RefSeq RNA:NM_016529, UCSC Genome Browser:NM_016529, UniProtKB:Q6ZSP3, UniProtKB:Q6ZU25, UniProtKB:Q9NTI2 No chr13 25946209 26599989 25372011 26025851 +PA265 5205 HGNC:3706 ENSG00000081923 ATPase phospholipid transporting 8B1 ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 ATPIC, BRIC, FIC1, PFIC, PFIC1 Yes No Comparative Toxicogenomics Database:5205, Ensembl:ENSG00000081923, GenAtlas:ATP8B1, GeneCard:ATP8B1, HGNC:HGNC:3706, HumanCyc Gene:HS01408, ModBase:O43520, NCBI Gene:5205, OMIM:211600, OMIM:243300, OMIM:602397, RefSeq DNA:NG_007148, RefSeq DNA:NT_025028, RefSeq Protein:NP_005594, RefSeq RNA:NM_005603, UCSC Genome Browser:NM_005603, UniProtKB:O43520 No chr18 55313658 55470327 57646426 57803828 +PA25167 57198 HGNC:13534 ENSG00000143515 ATPase phospholipid transporting 8B2 ATP8B2 ATPase, aminophospholipid transporter, class I, type 8B, member 2 ATPID, KIAA1137 Yes No Ensembl:ENSG00000143515, GenAtlas:ATP8B2, GeneCard:ATP8B2, HGNC:HGNC:13534, HumanCyc Gene:HS07068, ModBase:P98198, NCBI Gene:57198, OMIM:605867, RefSeq DNA:NT_004487, RefSeq Protein:NP_001005855, RefSeq Protein:NP_065185, RefSeq RNA:NM_001005855, RefSeq RNA:NM_020452, UniProtKB:P98198, UniProtKB:Q6P3T1 No chr1 154298036 154323780 154325541 154351307 +PA25168 148229 HGNC:13535 ENSG00000130270 ATPase phospholipid transporting 8B3 ATP8B3 """ATPase, aminophospholipid transporter, class I, type 8B, member 3"", ""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK""" ATPIK Yes Yes Ensembl:ENSG00000130270, GenAtlas:ATP8B3, GeneCard:ATP8B3, HGNC:HGNC:13535, ModBase:O60423, NCBI Gene:148229, OMIM:605866, RefSeq DNA:NT_011255, RefSeq Protein:NP_001171473, RefSeq Protein:NP_620168, RefSeq RNA:NM_001178002, RefSeq RNA:NM_138813, UniProtKB:O60423, UniProtKB:Q6ZUX8, UniProtKB:Q7Z485 No chr19 1782074 1812275 1782070 1812276 +PA25169 79895 HGNC:13536 ENSG00000104043 ATPase phospholipid transporting 8B4 (putative) ATP8B4 ATPase, class I, type 8B, member 4 ATPIM, KIAA1939 Yes No Ensembl:ENSG00000104043, GenAtlas:ATP8B4, GeneCard:ATP8B4, HGNC:HGNC:13536, ModBase:Q8TF62, NCBI Gene:79895, OMIM:609123, RefSeq DNA:NT_010194, RefSeq Protein:NP_079113, RefSeq RNA:NM_024837, UCSC Genome Browser:NM_024837, UniProtKB:Q8TF62 No chr15 50150435 50411419 49858238 50182096 +PA25171 10079 HGNC:13540 ENSG00000054793 ATPase phospholipid transporting 9A (putative) ATP9A ATPase, class II, type 9A ATPIIA, KIAA0611 Yes No Comparative Toxicogenomics Database:10079, Ensembl:ENSG00000054793, GenAtlas:ATP9A, GeneCard:ATP9A, HGNC:HGNC:13540, HumanCyc Gene:HS00675, ModBase:O75110, NCBI Gene:10079, OMIM:609126, RefSeq DNA:NT_011362, RefSeq Protein:NP_006036, RefSeq RNA:NM_006045, UniProtKB:O75110 No chr20 50213314 50384908 51596775 51768411 +PA25172 374868 HGNC:13541 ENSG00000166377 ATPase phospholipid transporting 9B (putative) ATP9B ATPase, class II, type 9B ATPIIB Yes No Ensembl:ENSG00000166377, GenAtlas:ATP9B, GeneCard:ATP9B, HGNC:HGNC:13541, ModBase:O43861, NCBI Gene:374868, RefSeq DNA:NT_025028, RefSeq Protein:NP_940933, RefSeq RNA:NM_198531, UniProtKB:B3KSI8, UniProtKB:O43861 No chr18 76829394 77138283 79069275 79378391 +PA38687 64756 HGNC:18803 ENSG00000123472 ATP synthase mitochondrial F1 complex assembly factor 1 ATPAF1 ATP11, Atp11p, FLJ22351 Yes No Ensembl:ENSG00000123472, GenAtlas:ATPAF1, GeneCard:ATPAF1, HGNC:HGNC:18803, HumanCyc Gene:HS13091, ModBase:Q5TC12, NCBI Gene:64756, OMIM:608917, RefSeq DNA:NT_032977, RefSeq Protein:NP_001036011, RefSeq Protein:NP_073582, RefSeq RNA:NM_001042546, RefSeq RNA:NM_022745, UCSC Genome Browser:NM_022745, UniProtKB:A8MRA7, UniProtKB:Q5TC12 No chr1 47100711 47134099 46635039 46668427 +PA38686 91647 HGNC:18802 ENSG00000171953 ATP synthase mitochondrial F1 complex assembly factor 2 ATPAF2 ATP12, Atp12p, LP3663, MGC29736 Yes No Comparative Toxicogenomics Database:91647, Ensembl:ENSG00000171953, GenAtlas:ATPAF2, GeneCard:ATPAF2, HGNC:HGNC:18802, HumanCyc Gene:HS16043, ModBase:Q8N5M1, NCBI Gene:91647, OMIM:604273, OMIM:608918, RefSeq DNA:NG_012824, RefSeq DNA:NT_010718, RefSeq Protein:NP_663729, RefSeq RNA:NM_145691, UCSC Genome Browser:NM_145691, UniProtKB:Q8N5M1 No chr17 17921334 17942483 18015059 18039169 +PA162387281 134145 HGNC:27029 ENSG00000150756 ATP synthase c subunit lysine N-methyltransferase ATPSCKMT """family with sequence similarity 173 member B"", ""family with sequence similarity 173, member B""" FAM173B, JS-2 Yes No Ensembl:ENSG00000150756, GeneCard:FAM173B, HGNC:HGNC:27029, ModBase:Q6P4H8, NCBI Gene:134145, RefSeq DNA:NT_006576, RefSeq Protein:NP_954584, RefSeq RNA:NM_199133, UniProtKB:Q6P4H8 No chr5 10225619 10250145 10225507 10249909 +PA74 545 HGNC:882 ENSG00000175054 ATR serine/threonine kinase ATR """MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"", ""ataxia telangiectasia and Rad3 related""" FRP1, MEC1, SCKL, SCKL1 Yes No Comparative Toxicogenomics Database:545, Ensembl:ENSG00000175054, GenAtlas:ATR, GeneCard:ATR, HGNC:HGNC:882, HumanCyc Gene:HS10870, ModBase:Q13535, NCBI Gene:545, OMIM:210600, OMIM:601215, RefSeq DNA:NG_008951, RefSeq DNA:NT_005612, RefSeq Protein:NP_001175, RefSeq RNA:NM_001184, UCSC Genome Browser:NM_001184, UniProtKB:Q13535 No chr3 142168077 142297668 142449235 142578826 +PA134964154 51374 HGNC:24090 ENSG00000138085 all-trans retinoic acid induced differentiation factor ATRAID all-trans retinoic acid-induced differentiation factor, apoptosis-related protein 3 APR3, C2orf28, HSPC013, p18 Yes No Ensembl:ENSG00000138085, GeneCard:C2orf28, HGNC:HGNC:24090, HumanCyc Gene:HS13710, NCBI Gene:51374, RefSeq DNA:NT_022184, RefSeq Protein:NP_001164266, RefSeq Protein:NP_057169, RefSeq Protein:NP_542159, RefSeq RNA:NM_001170795, RefSeq RNA:NM_016085, RefSeq RNA:NM_080592, UniProtKB:Q6UW56 No chr2 27434899 27440046 27212031 27217178 +PA162377290 84126 HGNC:33499 ENSG00000164053 ATR interacting protein ATRIP FLJ12343, MGC20625, MGC21482, MGC26740 Yes No Ensembl:ENSG00000164053, GeneCard:ATRIP, HGNC:HGNC:33499, ModBase:Q9HA30, NCBI Gene:84126, OMIM:606605, RefSeq DNA:NT_022517, RefSeq Protein:NP_115542, RefSeq Protein:NP_569055, RefSeq RNA:NM_032166, RefSeq RNA:NM_130384, UniProtKB:Q8WXE1 No chr3 48488114 48509044 48446710 48465655 +PA25178 8455 HGNC:885 ENSG00000088812 attractin ATRN mahogany protein DPPT-L, MGCA Yes No Comparative Toxicogenomics Database:8455, Ensembl:ENSG00000088812, GenAtlas:ATRN, GeneCard:ATRN, HGNC:HGNC:885, HumanCyc Gene:HS01608, ModBase:Q9NTQ3, NCBI Gene:8455, OMIM:603130, RefSeq DNA:NT_011387, RefSeq Protein:NP_001193976, RefSeq Protein:NP_647537, RefSeq Protein:NP_647538, RefSeq RNA:NM_001207047, RefSeq RNA:NM_139321, RefSeq RNA:NM_139322, UCSC Genome Browser:NM_012070, UniProtKB:O75882 No chr20 3451665 3631769 3471018 3651122 +PA134961599 26033 HGNC:29063 ENSG00000107518 attractin like 1 ATRNL1 attractin-like 1 ALP, FLJ45344, KIAA0534 Yes No Comparative Toxicogenomics Database:26033, Ensembl:ENSG00000107518, GeneCard:ATRNL1, HGNC:HGNC:29063, ModBase:Q5VV63, NCBI Gene:26033, OMIM:612869, RefSeq DNA:NT_030059, RefSeq Protein:NP_997186, RefSeq RNA:NM_207303, UniProtKB:Q5VV63 No chr10 116853124 117708496 115093365 115948999 +PA25179 546 HGNC:886 ENSG00000085224 ATRX chromatin remodeler ATRX """ATRX, chromatin remodeler"", ""RAD54 homolog (S. cerevisiae)"", ""alpha thalassemia/mental retardation syndrome X-linked""" JMS, MRX52, RAD54, XH2, XNP Yes No Comparative Toxicogenomics Database:546, Ensembl:ENSG00000085224, GenAtlas:ATRX, GeneCard:ATRX, HGNC:HGNC:886, HumanCyc Gene:HS01486, NCBI Gene:546, OMIM:300032, OMIM:300448, OMIM:301040, OMIM:309580, RefSeq DNA:NG_008838, RefSeq DNA:NT_011651, RefSeq Protein:NP_000480, RefSeq Protein:NP_612114, RefSeq RNA:NM_000489, RefSeq RNA:NM_138270, UCSC Genome Browser:NM_000489, UniProtKB:P46100 No chrX 76760356 77041755 77504878 77786269 +PA34958 6310 HGNC:10548 ENSG00000124788 ataxin 1 ATXN1 ATX1, D6S504E, SCA1 Yes No Comparative Toxicogenomics Database:6310, Ensembl:ENSG00000124788, GenAtlas:ATXN1, GeneCard:ATXN1, HGNC:HGNC:10548, HumanCyc Gene:HS04835, ModBase:P54253, NCBI Gene:6310, OMIM:164400, OMIM:601556, RefSeq DNA:NG_011571, RefSeq DNA:NT_007592, RefSeq Protein:NP_000323, RefSeq Protein:NP_001121636, RefSeq RNA:NM_000332, RefSeq RNA:NM_001128164, UCSC Genome Browser:NM_000332, UniProtKB:P54253 No chr6 16299343 16761721 16299112 16761490 +PA34959 25814 HGNC:10549 ENSG00000130638 ataxin 10 ATXN10 ATX10, E46L, FLJ37990, SCA10 Yes No Comparative Toxicogenomics Database:25814, Ensembl:ENSG00000130638, GenAtlas:ATXN10, GeneCard:ATXN10, HGNC:HGNC:10549, HumanCyc Gene:HS05411, ModBase:Q9UBB4, NCBI Gene:25814, OMIM:603516, OMIM:611150, RefSeq DNA:NG_016212, RefSeq DNA:NT_011520, RefSeq Protein:NP_001161093, RefSeq Protein:NP_037368, RefSeq RNA:NM_001167621, RefSeq RNA:NM_013236, UniProtKB:B4DG05, UniProtKB:Q9UBB4 No chr22 46067678 46241187 45671798 45845307 +PA162377321 342371 HGNC:33279 ENSG00000224470 ataxin 1 like ATXN1L ataxin 1-like, brother of ataxin 1 BOAT1 Yes No Ensembl:ENSG00000224470, GeneCard:ATXN1L, HGNC:HGNC:33279, ModBase:P0C7T5, NCBI Gene:342371, RefSeq DNA:NT_010498, RefSeq Protein:NP_001131147, RefSeq RNA:NM_001137675, RefSeq RNA:NR_024612, UniProtKB:P0C7T5 No chr16 71879894 71891236 71845991 71857333 +PA34968 6311 HGNC:10555 ENSG00000204842 ataxin 2 ATXN2 trinucleotide repeat containing 13 ATX2, SCA2, TNRC13 Yes No Comparative Toxicogenomics Database:6311, Ensembl:ENSG00000204842, GenAtlas:ATXN2, GeneCard:ATXN2, HGNC:HGNC:10555, NCBI Gene:6311, OMIM:183090, OMIM:601517, RefSeq DNA:NG_011572, RefSeq DNA:NT_009775, RefSeq Protein:NP_002964, RefSeq RNA:NM_002973, UCSC Genome Browser:NM_002973, UniProtKB:Q99700 No chr12 111890018 112037480 111452214 111599676 +PA128394585 11273 HGNC:31326 ENSG00000168488 ataxin 2 like ATXN2L ataxin 2-like A2D, A2lp Yes No Comparative Toxicogenomics Database:11273, Ensembl:ENSG00000168488, GeneCard:ATXN2L, HGNC:HGNC:31326, HumanCyc Gene:HS09772, ModBase:Q8WWM5, NCBI Gene:11273, OMIM:607931, RefSeq DNA:NT_010393, RefSeq Protein:NP_009176, RefSeq Protein:NP_663760, RefSeq Protein:NP_680780, RefSeq Protein:NP_680781, RefSeq Protein:NP_680782, RefSeq RNA:NM_007245, RefSeq RNA:NM_145714, RefSeq RNA:NM_148414, RefSeq RNA:NM_148415, RefSeq RNA:NM_148416, UCSC Genome Browser:NM_007245, UniProtKB:A8K1R6, UniProtKB:Q8WWM7 No chr16 28834369 28848558 28823048 28837237 +PA134971833 4287 HGNC:7106 ENSG00000066427 ataxin 3 ATXN3 ATX3, JOS, MJD, SCA3 Yes No Comparative Toxicogenomics Database:4287, Ensembl:ENSG00000066427, GeneCard:ATXN3, HGNC:HGNC:7106, HumanCyc Gene:HS00879, ModBase:Q9H3N0, NCBI Gene:4287, OMIM:109150, OMIM:607047, RefSeq DNA:NG_008198, RefSeq DNA:NT_026437, RefSeq Protein:NP_001121168, RefSeq Protein:NP_001121169, RefSeq Protein:NP_001158246, RefSeq Protein:NP_001158248, RefSeq Protein:NP_001158249, RefSeq Protein:NP_001158250, RefSeq Protein:NP_001158251, RefSeq Protein:NP_001158252, RefSeq Protein:NP_001158253, RefSeq Protein:NP_001158254, RefSeq Protein:NP_004984, RefSeq Protein:NP_109376, RefSeq RNA:NM_001127696, RefSeq RNA:NM_001127697, RefSeq RNA:NM_001164774, RefSeq RNA:NM_001164776, RefSeq RNA:NM_001164777, RefSeq RNA:NM_001164778, RefSeq RNA:NM_001164779, RefSeq RNA:NM_001164780, RefSeq RNA:NM_001164781, RefSeq RNA:NM_001164782, RefSeq RNA:NM_004993, RefSeq RNA:NM_030660, RefSeq RNA:NR_028453, RefSeq RNA:NR_028454, RefSeq RNA:NR_028455, RefSeq RNA:NR_028456, RefSeq RNA:NR_028457, RefSeq RNA:NR_028458, RefSeq RNA:NR_028459, RefSeq RNA:NR_028460, RefSeq RNA:NR_028461, RefSeq RNA:NR_028462, RefSeq RNA:NR_028463, RefSeq RNA:NR_028464, RefSeq RNA:NR_028465, RefSeq RNA:NR_028466, RefSeq RNA:NR_028467, RefSeq RNA:NR_028468, RefSeq RNA:NR_028469, RefSeq RNA:NR_028470, RefSeq RNA:NR_031765, UniProtKB:D6RDL9, UniProtKB:P54252 No chr14 92524896 92572965 92058552 92106621 +PA134884147 92552 HGNC:24173 ENSG00000123594 ataxin 3 like ATXN3L ataxin 3-like MJDL Yes No Ensembl:ENSG00000123594, GeneCard:ATXN3L, HGNC:HGNC:24173, NCBI Gene:92552, RefSeq DNA:NG_021356, RefSeq DNA:NT_167197, RefSeq Protein:NP_001129467, RefSeq RNA:NM_001135995, UniProtKB:B4DYC7, UniProtKB:Q9H3M9 No chrX 13336766 13338518 13318647 13320399 +PA34973 6314 HGNC:10560 ENSG00000163635 ataxin 7 ATXN7 Autosomal dominant cerebellar ataxia with retinal degeneration, SAGA associated factor 73 kDa homolog (S. cerevisiae) ADCAII, OPCA3, SCA7, SGF73 Yes No Comparative Toxicogenomics Database:6314, Ensembl:ENSG00000163635, GenAtlas:ATXN7, GeneCard:ATXN7, HGNC:HGNC:10560, HumanCyc Gene:HS08901, ModBase:O15265, NCBI Gene:6314, OMIM:164500, OMIM:607640, RefSeq DNA:NG_008227, RefSeq DNA:NT_022517, RefSeq Protein:NP_000324, RefSeq Protein:NP_001121621, RefSeq Protein:NP_001170858, RefSeq RNA:NM_000333, RefSeq RNA:NM_001128149, RefSeq RNA:NM_001177387, UCSC Genome Browser:NM_000333, UniProtKB:B4E207, UniProtKB:O15265, UniProtKB:Q9UPD8 No chr3 63849785 63989240 63864557 64003462 +PA134884892 222255 HGNC:22210 ENSG00000146776 ataxin 7 like 1 ATXN7L1 ataxin 7-like 1 ATXN7L4, KIAA1218, MGC33190 Yes No Ensembl:ENSG00000146776, GeneCard:ATXN7L1, HGNC:HGNC:22210, HumanCyc Gene:HS14174, NCBI Gene:222255, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_065776, RefSeq Protein:NP_612504, RefSeq Protein:NP_689962, RefSeq RNA:NM_020725, RefSeq RNA:NM_138495, RefSeq RNA:NM_152749, UniProtKB:A4D0Q2, UniProtKB:B4DTS1, UniProtKB:Q9ULK2 No chr7 105244932 105517046 105604774 105877232 +PA134927530 127002 HGNC:28713 ENSG00000162650 ataxin 7 like 2 ATXN7L2 ataxin 7-like 2 FLJ00381, MGC46534 Yes No Ensembl:ENSG00000162650, GeneCard:ATXN7L2, HGNC:HGNC:28713, ModBase:Q5T6C5, NCBI Gene:127002, RefSeq DNA:NT_032977, RefSeq Protein:NP_699171, RefSeq RNA:NM_153340, UniProtKB:Q5T6C5 No chr1 110026533 110035426 109483904 109492804 +PA134991793 56970 HGNC:25416 ENSG00000087152 ataxin 7 like 3 ATXN7L3 ataxin 7-like 3 DKFZp761G2113 Yes No Comparative Toxicogenomics Database:56970, Ensembl:ENSG00000087152, GeneCard:ATXN7L3, HGNC:HGNC:25416, ModBase:Q14CW9, NCBI Gene:56970, RefSeq DNA:NT_010783, RefSeq Protein:NP_001092303, RefSeq Protein:NP_064603, RefSeq RNA:NM_001098833, RefSeq RNA:NM_020218, UniProtKB:Q14CW9 No chr17 42269173 42275747 44191805 44199976 +PA165512339 552889 HGNC:37931 ENSG00000253719 ataxin 7 like 3B ATXN7L3B ataxin 7-like 3B #8203, lnc-SCA7 Yes No Ensembl:ENSG00000253719, GeneCard:ATXN7L3B, HGNC:HGNC:37931, NCBI Gene:552889, RefSeq DNA:NT_029419, RefSeq Protein:NP_001129734, RefSeq RNA:NM_001136262, UniProtKB:Q96GX2 No chr12 74931551 74935232 74537771 74541452 +PA147358764 724066 HGNC:32925 ataxin 8 ATXN8 Yes No GeneCard:ATXN8, HGNC:HGNC:32925, NCBI Gene:724066, OMIM:608768, OMIM:613289 No chr13 +PA34974 6315 HGNC:10561 ENSG00000230223 ATXN8 opposite strand (non-protein coding) ATXN8OS non-protein coding RNA 3 NCRNA00003 Yes No Comparative Toxicogenomics Database:6315, Ensembl:ENSG00000230223, GenAtlas:KLHL1AS, GeneCard:ATXN8OS, HGNC:HGNC:10561, NCBI Gene:6315, OMIM:603680, OMIM:608768, RefSeq DNA:NG_016173, RefSeq DNA:NT_024524, RefSeq RNA:NR_002717 No chr13 70681345 70713885 70107213 70139753 +PA25181 549 HGNC:890 ENSG00000148090 AU RNA binding methylglutaconyl-CoA hydratase AUH AU RNA binding protein/enoyl-CoA hydratase Yes No Comparative Toxicogenomics Database:549, Ensembl:ENSG00000148090, GenAtlas:AUH, GeneCard:AUH, HGNC:HGNC:890, HumanCyc Gene:HS07490, ModBase:Q13825, NCBI Gene:549, OMIM:250950, OMIM:600529, RefSeq DNA:NG_008017, RefSeq DNA:NT_008470, RefSeq Protein:NP_001689, RefSeq RNA:NM_001698, UCSC Genome Browser:NM_001698, UniProtKB:Q13825 No chr9 93976097 94124215 91213815 91361969 +PA142672453 79000 HGNC:28363 ENSG00000127423 aurora kinase A and ninein interacting protein AUNIP AIBp, C1orf135, MGC2603 Yes No Ensembl:ENSG00000127423, GeneCard:C1orf135, HGNC:HGNC:28363, HumanCyc Gene:HS13239, ModBase:Q9H7T9, NCBI Gene:79000, RefSeq DNA:NT_004610, RefSeq Protein:NP_076942, RefSeq RNA:NM_024037, UniProtKB:Q9H7T9 No chr1 26158414 26185939 25831913 25859458 +PA25182 550 HGNC:891 ENSG00000115307 AUP1 lipid droplet regulating VLDL assembly factor AUP1 """AUP1, lipid droplet regulating VLDL assembly factor"", ""ancient ubiquitous protein 1""" Yes No Ensembl:ENSG00000115307, GenAtlas:AUP1, GeneCard:AUP1, HGNC:HGNC:891, HumanCyc Gene:HS03868, ModBase:Q9Y679, NCBI Gene:550, OMIM:602434, RefSeq DNA:NT_022184, RefSeq Protein:NP_853553, RefSeq RNA:NM_181575, UCSC Genome Browser:NM_012103, UniProtKB:Q9Y679 No chr2 74753775 74757019 74526648 74529897 +PA36201 6790 HGNC:11393 ENSG00000087586 aurora kinase A AURKA """Aurora-A kinase"", ""protein phosphatase 1, regulatory subunit 47""" AIK, ARK1, AurA, BTAK, PPP1R47, STK15, STK6, STK7 Yes No Comparative Toxicogenomics Database:6790, Ensembl:ENSG00000087586, GeneCard:AURKA, HGNC:HGNC:11393, HumanCyc Gene:HS01581, ModBase:O14965, NCBI Gene:6790, OMIM:114500, OMIM:603072, RefSeq DNA:NG_012133, RefSeq DNA:NT_011362, RefSeq Protein:NP_003591, RefSeq Protein:NP_940835, RefSeq Protein:NP_940836, RefSeq Protein:NP_940837, RefSeq Protein:NP_940838, RefSeq Protein:NP_940839, RefSeq RNA:NM_003600, RefSeq RNA:NM_198433, RefSeq RNA:NM_198434, RefSeq RNA:NM_198435, RefSeq RNA:NM_198436, RefSeq RNA:NM_198437, UCSC Genome Browser:NM_003600, UniProtKB:O14965 No chr20 54944445 54967351 56369389 56392337 +PA142672568 54998 HGNC:24114 ENSG00000175756 aurora kinase A interacting protein 1 AURKAIP1 AIP, AKIP, FLJ20608, mS38 Yes No Comparative Toxicogenomics Database:54998, Ensembl:ENSG00000175756, GeneCard:AURKAIP1, HGNC:HGNC:24114, HumanCyc Gene:HS16505, NCBI Gene:54998, OMIM:609183, RefSeq DNA:NT_004350, RefSeq Protein:NP_001120701, RefSeq Protein:NP_001120702, RefSeq Protein:NP_060370, RefSeq RNA:NM_001127229, RefSeq RNA:NM_001127230, RefSeq RNA:NM_017900, UniProtKB:Q9NWT8 No chr1 1309110 1310818 1373730 1375438 +PA36199 9212 HGNC:11390 ENSG00000178999 aurora kinase B AURKB """aurora- and Ipl1-like midbody-associated protein 1 homolog (rat)"", ""aurora-1"", ""aurora-B"", ""protein phosphatase 1, regulatory subunit 48""" AIM-1, ARK2, Aik2, AurB, IPL1, PPP1R48, STK12, STK5 Yes No Comparative Toxicogenomics Database:9212, Ensembl:ENSG00000178999, GeneCard:AURKB, HGNC:HGNC:11390, HumanCyc Gene:HS11340, ModBase:Q96GD4, NCBI Gene:9212, OMIM:604970, RefSeq DNA:NT_010718, RefSeq Protein:NP_004208, RefSeq RNA:NM_004217, UCSC Genome Browser:NM_004217, UniProtKB:C7G533, UniProtKB:Q96GD4 No chr17 8108049 8113944 8204731 8210768 +PA36200 6795 HGNC:11391 ENSG00000105146 aurora kinase C AURKC ARK3, AurC, STK13 Yes No Comparative Toxicogenomics Database:6795, Ensembl:ENSG00000105146, GeneCard:AURKC, HGNC:HGNC:11391, HumanCyc Gene:HS02682, ModBase:Q9UQB9, NCBI Gene:6795, OMIM:243060, OMIM:603495, RefSeq DNA:NG_012134, RefSeq DNA:NT_011109, RefSeq Protein:NP_001015878, RefSeq Protein:NP_001015879, RefSeq Protein:NP_003151, RefSeq RNA:NM_001015878, RefSeq RNA:NM_001015879, RefSeq RNA:NM_003160, UCSC Genome Browser:NM_003160, UniProtKB:Q6DLZ0, UniProtKB:Q9UQB9 No chr19 57741750 57746916 57230317 57235550 +PA134863175 26053 HGNC:14262 ENSG00000158321 activator of transcription and developmental regulator AUTS2 AUTS2 """AUTS2, activator of transcription and developmental regulator"", ""autism susceptibility candidate 2""" FBRSL2, KIAA0442 Yes No Comparative Toxicogenomics Database:26053, Ensembl:ENSG00000158321, GeneCard:AUTS2, HGNC:HGNC:14262, HumanCyc Gene:HS08281, ModBase:Q8WXX7, NCBI Gene:26053, OMIM:607270, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001120703, RefSeq Protein:NP_001120704, RefSeq Protein:NP_056385, RefSeq RNA:NM_001127231, RefSeq RNA:NM_001127232, RefSeq RNA:NM_015570, UniProtKB:Q6PJU5, UniProtKB:Q8WXX7 No chr7 69063905 70257885 69598475 70793068 +PA134874337 57099 HGNC:13509 ENSG00000169857 apoptosis and caspase activation inhibitor AVEN """apoptosis, caspase activation inhibitor"", ""cell death regulator aven"", ""programmed cell death 12""" PDCD12 Yes No Comparative Toxicogenomics Database:57099, Ensembl:ENSG00000169857, GeneCard:AVEN, HGNC:HGNC:13509, HumanCyc Gene:HS10019, ModBase:Q9NQS1, NCBI Gene:57099, OMIM:605265, RefSeq DNA:NT_010194, RefSeq Protein:NP_065104, RefSeq RNA:NM_020371, UniProtKB:Q9NQS1 No chr15 34158428 34331303 33858602 34074877 +PA38380 10677 HGNC:14188 ENSG00000135407 advillin AVIL ADVIL, DOC6, FLJ12386, p92 Yes No Ensembl:ENSG00000135407, GenAtlas:AVIL, GeneCard:AVIL, HGNC:HGNC:14188, HumanCyc Gene:HS05998, ModBase:O75366, NCBI Gene:10677, OMIM:613397, RefSeq DNA:NT_029419, RefSeq Protein:NP_006567, RefSeq RNA:NM_006576, UCSC Genome Browser:NM_006576, UniProtKB:O75366 No chr12 58190415 58210193 57797372 57818704 +PA164716408 23080 HGNC:28994 ENSG00000105778 AVL9 cell migration associated AVL9 AVL9 homolog (S. cerevisiase) KIAA0241 Yes No Ensembl:ENSG00000105778, GeneCard:AVL9, HGNC:HGNC:28994, ModBase:Q8NBF6, NCBI Gene:23080, OMIM:612927, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_055875, RefSeq RNA:NM_015060, UniProtKB:Q8NBF6 No chr7 32535101 32628327 32495426 32588741 +PA25186 551 HGNC:894 ENSG00000101200 arginine vasopressin AVP antidiuretic hormone, copeptin, diabetes insipidus, neurohypophyseal, neurophysin II, prepro-AVP-NP II, prepro-arginine-vasopressin-neurophysin II ADH, ARVP Yes No Comparative Toxicogenomics Database:551, Ensembl:ENSG00000101200, GenAtlas:AVP, GeneCard:AVP, HGNC:HGNC:894, HumanCyc Gene:HS02217, ModBase:P01185, NCBI Gene:551, OMIM:125700, OMIM:192340, RefSeq DNA:NG_008663, RefSeq DNA:NT_011387, RefSeq Protein:NP_000481, RefSeq RNA:NM_000490, UCSC Genome Browser:NM_000490, UniProtKB:P01185 No chr20 3063202 3065370 3082555 3093521 +PA134905326 60370 HGNC:30898 ENSG00000119986 arginine vasopressin induced 1 AVPI1 arginine vasopressin-induced 1 PP5395, VIP32, VIT32 Yes No Comparative Toxicogenomics Database:60370, Ensembl:ENSG00000119986, GeneCard:AVPI1, HGNC:HGNC:30898, HumanCyc Gene:HS12971, NCBI Gene:60370, RefSeq DNA:NT_030059, RefSeq Protein:NP_068378, RefSeq RNA:NM_021732, UniProtKB:Q5T686 No chr10 99437181 99447015 97677422 97687432 +PA25187 552 HGNC:895 ENSG00000166148 arginine vasopressin receptor 1A AVPR1A AVPR1 Yes No Comparative Toxicogenomics Database:552, Ensembl:ENSG00000166148, GenAtlas:AVPR1A, GeneCard:AVPR1A, HGNC:HGNC:895, HumanCyc Gene:HS09339, IUPHAR Receptor:366, ModBase:P37288, NCBI Gene:552, OMIM:600821, RefSeq DNA:NT_029419, RefSeq Protein:NP_000697, RefSeq RNA:NM_000706, UCSC Genome Browser:NM_000706, UniProtKB:P37288 No chr12 63536539 63547971 63142759 63152810 +PA25188 553 HGNC:896 ENSG00000198049 arginine vasopressin receptor 1B AVPR1B V1B receptor, Vasopressin V3 receptor AVPR3, V1bR, VPR3 Yes No Comparative Toxicogenomics Database:553, Ensembl:ENSG00000198049, GenAtlas:AVPR1B, GeneCard:AVPR1B, HGNC:HGNC:896, IUPHAR Receptor:367, ModBase:P47901, NCBI Gene:553, OMIM:600264, RefSeq DNA:NT_086602, RefSeq Protein:NP_000698, RefSeq RNA:NM_000707, UCSC Genome Browser:NM_000707, UniProtKB:P47901 No chr1 206224283 206231482 206109849 206117048 +PA25189 554 HGNC:897 ENSG00000126895 arginine vasopressin receptor 2 AVPR2 nephrogenic diabetes insipidus DIR, DIR3, V2R Yes No Comparative Toxicogenomics Database:554, Ensembl:ENSG00000126895, GenAtlas:AVPR2, GeneCard:AVPR2, HGNC:HGNC:897, HumanCyc Gene:HS05059, IUPHAR Receptor:368, ModBase:P30518, NCBI Gene:554, OMIM:300538, OMIM:300539, OMIM:304800, RefSeq DNA:NG_008687, RefSeq DNA:NT_167198, RefSeq Protein:NP_000045, RefSeq Protein:NP_001139623, RefSeq RNA:NM_000054, RefSeq RNA:NM_001146151, RefSeq RNA:NR_027419, UCSC Genome Browser:NM_000054, UniProtKB:C5HF20, UniProtKB:P30518 No chrX 153167985 153172620 153902531 153907166 +PA164716409 158833 HGNC:23252 ENSG00000204195 acyl-CoA wax alcohol acyltransferase 1 AWAT1 DGAT2L3 Yes No Ensembl:ENSG00000204195, GeneCard:AWAT1, HGNC:HGNC:23252, HumanCyc Gene:HS11926, NCBI Gene:158833, RefSeq DNA:NG_013225, RefSeq DNA:NT_011669, RefSeq Protein:NP_001013597, RefSeq RNA:NM_001013579, UniProtKB:Q58HT5 No chrX 69454505 69460511 70233489 70240661 +PA164716410 158835 HGNC:23251 ENSG00000147160 acyl-CoA wax alcohol acyltransferase 2 AWAT2 multifunctional O-acyltransferase DGAT2L4, MFAT Yes No Ensembl:ENSG00000147160, GeneCard:AWAT2, HGNC:HGNC:23251, NCBI Gene:158835, RefSeq DNA:NG_021246, RefSeq DNA:NT_011669, RefSeq Protein:NP_001002254, RefSeq RNA:NM_001002254, UniProtKB:Q6E213 No chrX 69260392 69269788 70040542 70049970 +PA142672443 126859 HGNC:26564 ENSG00000162779 axonemal dynein light chain domain containing 1 AXDND1 C1orf125, FLJ32940 Yes No Comparative Toxicogenomics Database:126859, Ensembl:ENSG00000162779, GeneCard:C1orf125, HGNC:HGNC:26564, HumanCyc Gene:HS14968, ModBase:Q5T1B0, NCBI Gene:126859, RefSeq DNA:NT_004487, RefSeq Protein:NP_653297, RefSeq Protein:NP_877498, RefSeq RNA:NM_144696, RefSeq RNA:NM_182766, UniProtKB:Q5T1B0 No chr1 179334855 179523870 179365705 179554735 +PA25195 8312 HGNC:903 ENSG00000103126 axin 1 AXIN1 protein phosphatase 1, regulatory subunit 49 PPP1R49 Yes No Comparative Toxicogenomics Database:8312, Ensembl:ENSG00000103126, GenAtlas:AXIN1, GeneCard:AXIN1, HGNC:HGNC:903, HumanCyc Gene:HS02457, ModBase:O15169, NCBI Gene:8312, OMIM:114550, OMIM:603816, OMIM:607864, RefSeq DNA:NG_012267, RefSeq DNA:NT_010393, RefSeq Protein:NP_003493, RefSeq Protein:NP_851393, RefSeq RNA:NM_003502, RefSeq RNA:NM_181050, UCSC Genome Browser:NM_003502, UniProtKB:O15169 No chr16 337440 405244 287440 355226 +PA25196 8313 HGNC:904 ENSG00000168646 axin 2 AXIN2 axil, conductin DKFZp781B0869, MGC126582 Yes Yes Comparative Toxicogenomics Database:8313, Ensembl:ENSG00000168646, GenAtlas:AXIN2, GeneCard:AXIN2, HGNC:HGNC:904, HumanCyc Gene:HS09798, ModBase:Q9Y2T1, NCBI Gene:8313, OMIM:114500, OMIM:604025, OMIM:608615, RefSeq DNA:NG_012142, RefSeq DNA:NT_010783, RefSeq Protein:NP_004646, RefSeq RNA:NM_004655, UCSC Genome Browser:NM_004655, UniProtKB:Q9Y2T1 No chr17 63524681 63557740 65528563 65561622 +PA25197 558 HGNC:905 ENSG00000167601 AXL receptor tyrosine kinase AXL ARK, JTK11, Tyro7, UFO Yes No Comparative Toxicogenomics Database:558, Ensembl:ENSG00000167601, GenAtlas:AXL, GeneCard:AXL, HGNC:HGNC:905, HumanCyc Gene:HS09589, ModBase:P30530, NCBI Gene:558, OMIM:109135, RefSeq DNA:NT_011109, RefSeq Protein:NP_001690, RefSeq Protein:NP_068713, RefSeq RNA:NM_001699, RefSeq RNA:NM_021913, UCSC Genome Browser:NM_001699, UniProtKB:P30530 No chr19 41725104 41767672 41219199 41261767 +PA25203 563 HGNC:910 ENSG00000160862 alpha-2-glycoprotein 1, zinc-binding AZGP1 ZA2G, ZAG Yes No Comparative Toxicogenomics Database:563, Ensembl:ENSG00000160862, GenAtlas:AZGP1, GeneCard:AZGP1, HGNC:HGNC:910, HumanCyc Gene:HS08542, ModBase:P25311, NCBI Gene:563, OMIM:194460, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001176, RefSeq RNA:NM_001185, UCSC Genome Browser:NM_001185, UniProtKB:P25311 No chr7 99564350 99573735 99966727 99976112 +PA25204 646282 HGNC:911 ENSG00000214313 alpha-2-glycoprotein 1, zinc-binding pseudogene 1 AZGP1P1 Yes No Ensembl:ENSG00000214313, GenAtlas:AZGP1P1, GeneCard:AZGP1P1, HGNC:HGNC:911, NCBI Gene:646282, RefSeq DNA:NG_008253, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_036679 No chr7 99578385 99581860 99980762 99984237 +PA25205 401393 HGNC:912 ENSG00000214252 alpha-2-glycoprotein 1, zinc-binding pseudogene 2 AZGP1P2 Yes No Ensembl:ENSG00000214252, GenAtlas:AZGP1P2, GeneCard:AZGP1P2, HGNC:HGNC:912, NCBI Gene:401393, RefSeq DNA:NG_008494, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596 No chr7 100930760 100933089 101287479 101289808 +PA134950985 64343 HGNC:24002 ENSG00000163512 5-azacytidine induced 2 AZI2 AZ2, FLJ21939, NAP1 Yes No Ensembl:ENSG00000163512, GeneCard:AZI2, HGNC:HGNC:24002, HumanCyc Gene:HS15072, ModBase:Q9H6S1, NCBI Gene:64343, OMIM:609916, RefSeq DNA:NT_022517, RefSeq Protein:NP_001127904, RefSeq Protein:NP_001127905, RefSeq Protein:NP_071906, RefSeq RNA:NM_001134432, RefSeq RNA:NM_001134433, RefSeq RNA:NM_022461, UniProtKB:C9JB40, UniProtKB:C9JKL9, UniProtKB:Q9H6S1 No chr3 28363844 28390915 28322353 28349129 +PA31887 51582 HGNC:16432 ENSG00000155096 antizyme inhibitor 1 AZIN1 ornithine decarboxylase 1-like OAZI, OAZIN, ODC1L Yes No Comparative Toxicogenomics Database:51582, Ensembl:ENSG00000155096, GenAtlas:AZIN1, GeneCard:AZIN1, HGNC:HGNC:16432, HumanCyc Gene:HS08029, ModBase:O14977, NCBI Gene:51582, OMIM:607909, RefSeq DNA:NT_008046, RefSeq Protein:NP_056962, RefSeq Protein:NP_680479, RefSeq RNA:NM_015878, RefSeq RNA:NM_148174, UCSC Genome Browser:NM_015878, UniProtKB:O14977 No chr8 103838536 103876905 102826302 102864200 +PA142672642 113451 HGNC:29957 ENSG00000142920 antizyme inhibitor 2 AZIN2 arginine decarboxylase, ornithine decarboxylase like ADC, KIAA1945, ODC-p, ODC1L, ODCp Yes No Ensembl:ENSG00000142920, GeneCard:ADC, HGNC:HGNC:29957, HumanCyc Gene:HS06971, ModBase:Q96L57, NCBI Gene:113451, OMIM:608353, RefSeq DNA:NT_032977, RefSeq Protein:NP_443724, RefSeq RNA:NM_052998, UniProtKB:Q96A70 No chr1 33546711 33586132 33081110 33162288 +PA25206 566 HGNC:913 ENSG00000172232 azurocidin 1 AZU1 cationic antimicrobial protein 37, heparin-binding protein, neutrophil azurocidin AZAMP, AZU, CAP37, HBP, HUMAZUR, NAZC Yes No Ensembl:ENSG00000172232, GenAtlas:AZU1, GeneCard:AZU1, HGNC:HGNC:913, HumanCyc Gene:HS10474, ModBase:P20160, NCBI Gene:566, OMIM:162815, RefSeq DNA:NT_011255, RefSeq Protein:NP_001691, RefSeq RNA:NM_001700, UCSC Genome Browser:NM_001700, UniProtKB:P20160 No chr19 827831 832017 827826 832018 +PA25207 567 HGNC:914 ENSG00000166710 beta-2-microglobulin B2M Yes No Comparative Toxicogenomics Database:567, Ensembl:ENSG00000166710, GenAtlas:B2M, GeneCard:B2M, HGNC:HGNC:914, HumanCyc Gene:HS09441, ModBase:P61769, NCBI Gene:567, OMIM:109700, OMIM:241600, RefSeq DNA:NG_012920, RefSeq DNA:NT_010194, RefSeq Protein:NP_004039, RefSeq RNA:NM_004048, UCSC Genome Browser:NM_004048, UniProtKB:P61769 No chr15 45003685 45010357 44711487 44718159 +PA25208 568 HGNC:915 beta-2-microglobulin regulator B2MR Yes No GenAtlas:B2MR, GeneCard:B2MR, HGNC:HGNC:915, NCBI Gene:568, OMIM:109710 No chr15 +PA25211 8706 HGNC:918 ENSG00000169255 beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) B3GALNT1 """P antigen synthase"", ""beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)"", ""globoside synthase""" B3GALANT1, B3GALT3, GLOB, P1, beta3Gal-T3, galT3 Yes No Ensembl:ENSG00000169255, GenAtlas:B3GALNT1, GeneCard:B3GALNT1, HGNC:HGNC:918, HumanCyc Gene:HS09918, ModBase:O75752, NCBI Gene:8706, OMIM:111400, OMIM:603094, RefSeq DNA:NG_007854, RefSeq DNA:NT_005612, RefSeq Protein:NP_001033717, RefSeq Protein:NP_003772, RefSeq Protein:NP_149357, RefSeq Protein:NP_149358, RefSeq Protein:NP_149359, RefSeq RNA:NM_001038628, RefSeq RNA:NM_003781, RefSeq RNA:NM_033167, RefSeq RNA:NM_033168, RefSeq RNA:NM_033169, UCSC Genome Browser:NM_003781, UniProtKB:B3KTQ4, UniProtKB:O75752, UniProtKB:Q49AT3, UniProtKB:Q7L9G8, UniProtKB:Q8TDY1 No chr3 160801671 160823160 161083883 161105528 +PA142672567 148789 HGNC:28596 ENSG00000162885 beta-1,3-N-acetylgalactosaminyltransferase 2 B3GALNT2 MGC39558 Yes No Comparative Toxicogenomics Database:148789, Ensembl:ENSG00000162885, GeneCard:B3GALNT2, HGNC:HGNC:28596, HumanCyc Gene:HS08750, ModBase:Q8NCR0, NCBI Gene:148789, OMIM:610194, RefSeq DNA:NT_167186, RefSeq Protein:NP_689703, RefSeq RNA:NM_152490, UniProtKB:Q8NCR0 No chr1 235610505 235667781 235440654 235504481 +PA25209 8708 HGNC:916 ENSG00000172318 beta-1,3-galactosyltransferase 1 B3GALT1 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 beta3Gal-T1 Yes No Ensembl:ENSG00000172318, GenAtlas:B3GALT1, GeneCard:B3GALT1, HGNC:HGNC:916, HumanCyc Gene:HS10487, ModBase:Q9Y5Z6, NCBI Gene:8708, OMIM:603093, RefSeq DNA:NT_005403, RefSeq Protein:NP_066191, RefSeq RNA:NM_020981, UCSC Genome Browser:NM_020981, UniProtKB:Q9Y5Z6 No chr2 +PA25210 8707 HGNC:917 ENSG00000162630 beta-1,3-galactosyltransferase 2 B3GALT2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 beta3Gal-T2 Yes No Ensembl:ENSG00000162630, GenAtlas:B3GALT2, GeneCard:B3GALT2, HGNC:HGNC:917, HumanCyc Gene:HS08709, ModBase:O43825, NCBI Gene:8707, OMIM:603018, RefSeq DNA:NT_004487, RefSeq Protein:NP_003774, RefSeq RNA:NM_003783, UCSC Genome Browser:NM_003783, UniProtKB:O43825 No chr1 193147860 193155743 193178730 193186613 +PA25212 8705 HGNC:919 ENSG00000206285, ENSG00000226936, ENSG00000235155, ENSG00000235863, ENSG00000236802 beta-1,3-galactosyltransferase 4 B3GALT4 """UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4"", ""ganglioside galactosyltransferase""" GalT4, beta3Gal-T4 Yes No Ensembl:ENSG00000206285, Ensembl:ENSG00000226936, Ensembl:ENSG00000235155, Ensembl:ENSG00000235863, Ensembl:ENSG00000236802, GenAtlas:B3GALT4, GeneCard:B3GALT4, HGNC:HGNC:919, HumanCyc Gene:HS00059, ModBase:O96024, NCBI Gene:8705, OMIM:603095, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_003773, RefSeq RNA:NM_003782, UCSC Genome Browser:NM_003782, UniProtKB:B3KQP5, UniProtKB:O96024, UniProtKB:Q5STJ7 No chr6 33244917 33246602 33277140 33278825 +PA25213 10317 HGNC:920 ENSG00000183778 beta-1,3-galactosyltransferase 5 B3GALT5 """GlcNAc-beta-1,3-galactosyltransferase 5"", ""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5"", ""homolog of C. elegans Bt toxin resistance gene bre-5""" B3GalT-V, B3T5, GLCT5, beta3Gal-T5 Yes No Comparative Toxicogenomics Database:10317, Ensembl:ENSG00000183778, GenAtlas:B3GALT5, GeneCard:B3GALT5, HGNC:HGNC:920, ModBase:Q9Y2C3, NCBI Gene:10317, OMIM:604066, RefSeq DNA:NT_011512, RefSeq Protein:NP_006048, RefSeq Protein:NP_149360, RefSeq Protein:NP_149361, RefSeq Protein:NP_149362, RefSeq Protein:NP_149363, RefSeq RNA:NM_006057, RefSeq RNA:NM_033170, RefSeq RNA:NM_033171, RefSeq RNA:NM_033172, RefSeq RNA:NM_033173, UCSC Genome Browser:NM_006057, UniProtKB:Q9Y2C3 No chr21 40928369 41034816 39612940 39662889 +PA25214 126792 HGNC:17978 ENSG00000176022 beta-1,3-galactosyltransferase 6 B3GALT6 """UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6"", ""beta-1,3-galactosyltransferase-6""" beta3GalT6 Yes No Ensembl:ENSG00000176022, GenAtlas:B3GALT6, GeneCard:B3GALT6, HGNC:HGNC:17978, HumanCyc Gene:HS10991, ModBase:Q96L58, NCBI Gene:126792, RefSeq DNA:NT_004350, RefSeq Protein:NP_542172, RefSeq RNA:NM_080605, UCSC Genome Browser:NM_080605, UniProtKB:Q96L58 No chr1 1167629 1170421 1232249 1235041 +PA166352181 100288842 HGNC:53652 beta-1,3-galactosyltransferase 9 B3GALT9 B3GNT10 Yes No HGNC:HGNC:53652, NCBI Gene:100288842 No 0 0 0 0 +PA25215 27087 HGNC:921 ENSG00000109956 beta-1,3-glucuronyltransferase 1 B3GAT1 """beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P""" CD57, GlcAT-P, HNK-1, LEU7, NK-1 Yes No Comparative Toxicogenomics Database:27087, Ensembl:ENSG00000109956, GenAtlas:B3GAT1, GeneCard:B3GAT1, HGNC:HGNC:921, HumanCyc Gene:HS03272, ModBase:Q9P2W7, NCBI Gene:27087, OMIM:151290, RefSeq DNA:NT_033899, RefSeq Protein:NP_061114, RefSeq Protein:NP_473366, RefSeq RNA:NM_018644, RefSeq RNA:NM_054025, UCSC Genome Browser:NM_018644, UniProtKB:Q9P2W7 No chr11 134248398 134281880 134378504 134411986 +PA25216 135152 HGNC:922 ENSG00000112309 beta-1,3-glucuronyltransferase 2 B3GAT2 """beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"", ""glucuronosyltransferase S""" GlcAT-S Yes No Ensembl:ENSG00000112309, GenAtlas:B3GAT2, GeneCard:B3GAT2, HGNC:HGNC:922, HumanCyc Gene:HS03557, ModBase:Q9NPZ5, NCBI Gene:135152, OMIM:607497, RefSeq DNA:NT_007299, RefSeq Protein:NP_542780, RefSeq RNA:NM_080742, UCSC Genome Browser:NM_080742, UniProtKB:Q9NPZ5 No chr6 71566914 71667101 70861366 70957085 +PA25217 26229 HGNC:923 ENSG00000149541 beta-1,3-glucuronyltransferase 3 B3GAT3 """beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"", ""glucuronosyltransferase I""" GlcAT-I Yes No Comparative Toxicogenomics Database:26229, Ensembl:ENSG00000149541, GenAtlas:B3GAT3, GeneCard:B3GAT3, HGNC:HGNC:923, HumanCyc Gene:HS07624, ModBase:O94766, NCBI Gene:26229, OMIM:606374, RefSeq DNA:NT_167190, RefSeq Protein:NP_036332, RefSeq RNA:NM_012200, UCSC Genome Browser:NM_012200, UniProtKB:O94766 No chr11 62382768 62389647 62615296 62622175 +PA144596515 145173 HGNC:20207 ENSG00000187676 beta 3-glucosyltransferase B3GLCT """beta 1,3-galactosyltransferase-like"", ""beta-1,3-glucosyltransferase""" B3GALTL, B3GTL, B3Glc-T Yes No Ensembl:ENSG00000187676, GeneCard:B3GALTL, HGNC:HGNC:20207, ModBase:Q6Y288, NCBI Gene:145173, OMIM:261540, OMIM:610308, RefSeq DNA:NG_011732, RefSeq DNA:NT_024524, RefSeq Protein:NP_919299, RefSeq RNA:NM_194318, UniProtKB:Q6Y288 No chr13 31774112 31906413 31199975 31332276 +PA25218 10678 HGNC:15629 ENSG00000170340 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 B3GNT2 B3GN-T1, B3GN-T2, B3GNT-2, B3GNT1, BETA3GNT Yes No Comparative Toxicogenomics Database:10678, Ensembl:ENSG00000170340, GenAtlas:B3GNT2, GeneCard:B3GNT2, HGNC:HGNC:15629, HumanCyc Gene:HS10106, ModBase:Q9NY97, NCBI Gene:10678, OMIM:605581, RefSeq DNA:NT_022184, RefSeq Protein:NP_006568, RefSeq RNA:NM_006577, UCSC Genome Browser:NM_006577, UniProtKB:Q54AC1, UniProtKB:Q9NY97 No chr2 62423262 62451866 62196127 62224731 +PA25219 10331 HGNC:13528 ENSG00000179913 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 B3GNT3 """beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""putative type II membrane protein"", ""transmembrane protein 3""" B3GN-T3, B3GNT-3, HP10328, TMEM3, beta3Gn-T3 Yes No Comparative Toxicogenomics Database:10331, Ensembl:ENSG00000179913, GenAtlas:B3GNT3, GeneCard:B3GNT3, HGNC:HGNC:13528, HumanCyc Gene:HS11426, NCBI Gene:10331, OMIM:605863, RefSeq DNA:NT_011295, RefSeq Protein:NP_055071, RefSeq RNA:NM_014256, UCSC Genome Browser:NM_014256, UniProtKB:Q9Y2A9 No chr19 17905919 17924385 17794828 17813576 +PA25220 79369 HGNC:15683 ENSG00000176383 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 B3GNT4 B3GN-T4, beta3Gn-T4 Yes No Comparative Toxicogenomics Database:79369, Ensembl:ENSG00000176383, GenAtlas:B3GNT4, GeneCard:B3GNT4, HGNC:HGNC:15683, HumanCyc Gene:HS11042, ModBase:Q9C0J1, NCBI Gene:79369, OMIM:605864, RefSeq DNA:NT_009755, RefSeq Protein:NP_110392, RefSeq RNA:NM_030765, UCSC Genome Browser:NM_030765, UniProtKB:Q9C0J1 No chr12 122688228 122692677 122203681 122208135 +PA25221 84002 HGNC:15684 ENSG00000176597 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 B3GNT5 lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase B3GN-T5, beta3Gn-T5 Yes No Ensembl:ENSG00000176597, GenAtlas:B3GNT5, GeneCard:B3GNT5, HGNC:HGNC:15684, HumanCyc Gene:HS11063, ModBase:Q9BYG0, NCBI Gene:84002, RefSeq DNA:NT_005612, RefSeq Protein:NP_114436, RefSeq RNA:NM_032047, UCSC Genome Browser:NM_032047, UniProtKB:Q9BYG0 No chr3 182971032 182991179 183253207 183273391 +PA164741288 192134 HGNC:24141 ENSG00000198488 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 B3GNT6 """UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)"", ""core 3 synthase""" B3Gn-T6 Yes No Ensembl:ENSG00000198488, GeneCard:B3GNT6, HGNC:HGNC:24141, ModBase:Q6ZMB0, NCBI Gene:192134, RefSeq DNA:NT_167190, RefSeq Protein:NP_619651, RefSeq RNA:NM_138706, UniProtKB:A8K9Q8, UniProtKB:Q6ZMB0 No chr11 76745385 76753020 77034341 77041973 +PA38692 93010 HGNC:18811 ENSG00000156966 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 B3GNT7 beta3GnT7 Yes No Comparative Toxicogenomics Database:93010, Ensembl:ENSG00000156966, GenAtlas:B3GNT7, GeneCard:B3GNT7, HGNC:HGNC:18811, HumanCyc Gene:HS08162, ModBase:Q8NFL0, NCBI Gene:93010, RefSeq DNA:NT_005403, RefSeq Protein:NP_660279, RefSeq RNA:NM_145236, UCSC Genome Browser:NM_145236, UniProtKB:Q8NFL0 No chr2 232260335 232265875 231395624 231401164 +PA134910679 374907 HGNC:24139 ENSG00000177191 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 B3GNT8 B3GALT7, BGALT15, beta3Gn-T8 Yes No Comparative Toxicogenomics Database:374907, Ensembl:ENSG00000177191, GeneCard:B3GNT8, HGNC:HGNC:24139, ModBase:Q7Z7M8, NCBI Gene:374907, RefSeq DNA:NT_011109, RefSeq Protein:NP_940942, RefSeq RNA:NM_198540, UniProtKB:Q7Z7M8 No chr19 41931264 41934635 41425359 41429024 +PA164716431 84752 HGNC:28714 ENSG00000237172 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 B3GNT9 MGC4655 Yes No Ensembl:ENSG00000237172, GeneCard:B3GNT9, HGNC:HGNC:28714, ModBase:Q6UX72, NCBI Gene:84752, RefSeq DNA:NT_010498, RefSeq Protein:NP_171608, RefSeq RNA:NM_033309, UniProtKB:Q6UX72 No chr16 67182005 67184902 67148102 67150999 +PA134910219 146712 HGNC:21727 ENSG00000175711 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 B3GNT8 Yes No Ensembl:ENSG00000175711, GeneCard:B3GNTL1, HGNC:HGNC:21727, ModBase:Q67FW5, NCBI Gene:146712, RefSeq DNA:NT_010663, RefSeq Protein:NP_001009905, RefSeq RNA:NM_001009905, UniProtKB:Q67FW5 No chr17 80900009 81009686 82942149 83051845 +PA28532 2583 HGNC:4117 ENSG00000135454 beta-1,4-N-acetyl-galactosaminyltransferase 1 B4GALNT1 """GD2 synthase, GM2 synthase"", ""beta-1,4-N-acetyl-galactosaminyl transferase 1""" GALGT, SPG26, beta1-4GalNAc-T Yes No Comparative Toxicogenomics Database:2583, Ensembl:ENSG00000135454, GenAtlas:B4GALNT1, GeneCard:B4GALNT1, HGNC:HGNC:4117, HumanCyc Gene:HS06011, ModBase:Q00973, NCBI Gene:2583, OMIM:601873, RefSeq DNA:NT_029419, RefSeq Protein:NP_001469, RefSeq RNA:NM_001478, UCSC Genome Browser:NM_001478, UniProtKB:Q00973, UniProtKB:Q8N636 No chr12 58019678 58027022 57623409 57633239 +PA134988070 124872 HGNC:24136 ENSG00000167080 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) B4GALNT2 """beta-1,4-N-acetyl-galactosaminyl transferase 2"", ""beta-1,4-N-acetyl-galactosaminyltransferase 2""" Cad, GALGT2, Sda Yes No Comparative Toxicogenomics Database:124872, Ensembl:ENSG00000167080, GeneCard:B4GALNT2, HGNC:HGNC:24136, HumanCyc Gene:HS09505, ModBase:Q8NHY0, NCBI Gene:124872, OMIM:111730, RefSeq DNA:NT_010783, RefSeq Protein:NP_001152859, RefSeq Protein:NP_001152860, RefSeq Protein:NP_703147, RefSeq RNA:NM_001159387, RefSeq RNA:NM_001159388, RefSeq RNA:NM_153446, UniProtKB:B4DZE4, UniProtKB:Q8NHY0 No chr17 47209822 47247351 49120347 49170722 +PA142672564 283358 HGNC:24137 ENSG00000139044 beta-1,4-N-acetyl-galactosaminyltransferase 3 B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3 B4GalNac-T3, FLJ16224, FLJ40362 Yes No Ensembl:ENSG00000139044, GeneCard:B4GALNT3, HGNC:HGNC:24137, HumanCyc Gene:HS13753, ModBase:Q6L9W6, NCBI Gene:283358, OMIM:612220, RefSeq DNA:NT_009759, RefSeq Protein:NP_775864, RefSeq RNA:NM_173593, UniProtKB:Q6L9W6, UniProtKB:Q8N9V0 No chr12 569543 671503 460377 561892 +PA142672565 338707 HGNC:26315 ENSG00000182272 beta-1,4-N-acetyl-galactosaminyltransferase 4 B4GALNT4 """N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase"", ""beta-1,4-N-acetyl-galactosaminyl transferase 4""" FLJ25045, NGalNAc-T1 Yes No Ensembl:ENSG00000182272, GeneCard:B4GALNT4, HGNC:HGNC:26315, ModBase:Q76KP1, NCBI Gene:338707, RefSeq DNA:NT_009237, RefSeq Protein:NP_848632, RefSeq RNA:NM_178537, UniProtKB:Q76KP1 No chr11 369795 382117 369773 382117 +PA25223 2683 HGNC:924 ENSG00000086062 beta-1,4-galactosyltransferase 1 B4GALT1 """Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase"", ""N-acetyllactosamine synthase"", ""UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1"", ""lactose synthase A""" GGTB2, beta4Gal-T1 Yes No Comparative Toxicogenomics Database:2683, Ensembl:ENSG00000086062, GenAtlas:B4GALT1, GeneCard:B4GALT1, HGNC:HGNC:924, HumanCyc Gene:HS01519, ModBase:P15291, NCBI Gene:2683, OMIM:137060, OMIM:607091, RefSeq DNA:NG_008919, RefSeq DNA:NT_008413, RefSeq Protein:NP_001488, RefSeq RNA:NM_001497, UCSC Genome Browser:NM_001497, UniProtKB:P15291 No chr9 33110636 33167356 33110641 33167391 +PA25224 8704 HGNC:925 ENSG00000117411 beta-1,4-galactosyltransferase 2 B4GALT2 """Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase"", ""N-acetyllactosamine synthase"", ""UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2"", ""lactose synthase A""" beta4Gal-T2 Yes Yes Comparative Toxicogenomics Database:8704, Ensembl:ENSG00000117411, GenAtlas:B4GALT2, GeneCard:B4GALT2, HGNC:HGNC:925, HumanCyc Gene:HS04130, ModBase:O60909, NCBI Gene:8704, OMIM:604013, RefSeq DNA:NT_032977, RefSeq Protein:NP_001005417, RefSeq Protein:NP_003771, RefSeq Protein:NP_085076, RefSeq RNA:NM_001005417, RefSeq RNA:NM_003780, RefSeq RNA:NM_030587, UCSC Genome Browser:NM_003780, UniProtKB:O60909 No chr1 44444874 44456843 43979202 43991171 +PA25225 8703 HGNC:926 ENSG00000158850 beta-1,4-galactosyltransferase 3 B4GALT3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 beta4Gal-T3 Yes No Comparative Toxicogenomics Database:8703, Ensembl:ENSG00000158850, GenAtlas:B4GALT3, GeneCard:B4GALT3, HGNC:HGNC:926, HumanCyc Gene:HS08336, ModBase:O60512, NCBI Gene:8703, OMIM:604014, RefSeq DNA:NG_011480, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186802, RefSeq Protein:NP_001186803, RefSeq Protein:NP_003770, RefSeq RNA:NM_001199873, RefSeq RNA:NM_001199874, RefSeq RNA:NM_003779, UCSC Genome Browser:NM_003779, UniProtKB:O60512 No chr1 161141100 161147758 161171310 161177968 +PA25226 8702 HGNC:927 ENSG00000121578 beta-1,4-galactosyltransferase 4 B4GALT4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 beta4Gal-T4 Yes No Comparative Toxicogenomics Database:8702, Ensembl:ENSG00000121578, GenAtlas:B4GALT4, GeneCard:B4GALT4, HGNC:HGNC:927, HumanCyc Gene:HS04504, ModBase:O60513, NCBI Gene:8702, OMIM:604015, RefSeq DNA:NT_005612, RefSeq Protein:NP_003769, RefSeq Protein:NP_997708, RefSeq RNA:NM_003778, RefSeq RNA:NM_212543, UCSC Genome Browser:NM_003778, UniProtKB:B2RAZ5, UniProtKB:B3KM35, UniProtKB:O60513 No chr3 118930589 118959754 119211742 119240946 +PA25227 9334 HGNC:928 ENSG00000158470 beta-1,4-galactosyltransferase 5 B4GALT5 """UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5"", ""beta4-GalT IV""" beta4GalT-V Yes No Comparative Toxicogenomics Database:9334, Ensembl:ENSG00000158470, GenAtlas:B4GALT5, GeneCard:B4GALT5, HGNC:HGNC:928, HumanCyc Gene:HS08294, ModBase:O43286, NCBI Gene:9334, OMIM:604016, RefSeq DNA:NT_011362, RefSeq Protein:NP_004767, RefSeq RNA:NM_004776, UCSC Genome Browser:NM_004776, UniProtKB:O43286 No chr20 48249482 48330421 49632945 49713884 +PA25228 9331 HGNC:929 ENSG00000118276 beta-1,4-galactosyltransferase 6 B4GALT6 """UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6"", ""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase""" beta4GalT-VI Yes No Comparative Toxicogenomics Database:9331, Ensembl:ENSG00000118276, GenAtlas:B4GALT6, GeneCard:B4GALT6, HGNC:HGNC:929, HumanCyc Gene:HS04210, ModBase:Q9UBX8, NCBI Gene:9331, OMIM:604017, RefSeq DNA:NT_010966, RefSeq Protein:NP_004766, RefSeq RNA:NM_004775, UCSC Genome Browser:NM_004775, UniProtKB:Q9UBX8 No chr18 29202209 29306560 31622246 31724670 +PA25229 11285 HGNC:930 ENSG00000027847 beta-1,4-galactosyltransferase 7 B4GALT7 """galactosyltransferase I"", ""xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7""" XGALT-1, beta4Gal-T7 Yes No Comparative Toxicogenomics Database:11285, Ensembl:ENSG00000027847, GenAtlas:B4GALT7, GeneCard:B4GALT7, HGNC:HGNC:930, HumanCyc Gene:HS00459, ModBase:Q9UBV7, NCBI Gene:11285, OMIM:130070, OMIM:604327, RefSeq DNA:NG_015977, RefSeq DNA:NT_023133, RefSeq Protein:NP_009186, RefSeq RNA:NM_007255, UCSC Genome Browser:NM_007255, UniProtKB:Q9UBV7 No chr5 177027119 177037348 177600118 177610347 +PA164741279 11041 HGNC:15685 ENSG00000174684 beta-1,4-glucuronyltransferase 1 B4GAT1 """N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"", ""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1""" B3GN-T1, B3GNT1, B3GNT6, BETA3GNTI, iGAT, iGNT, iGnT Yes No Ensembl:ENSG00000174684, GeneCard:B3GNT1, HGNC:HGNC:15685, HumanCyc Gene:HS10821, NCBI Gene:11041, OMIM:605517, RefSeq DNA:NT_167190, RefSeq Protein:NP_006867, RefSeq RNA:NM_006876, UniProtKB:O43505 No chr11 66112843 66115161 66345372 66347690 +PA162377328 27077 HGNC:24123 ENSG00000108641 B9 domain containing 1 B9D1 B9 protein domain 1, endothelial precursor protein B9 B9, EPPB9, MKS9, MKSR-1 Yes No Ensembl:ENSG00000108641, GeneCard:B9D1, HGNC:HGNC:24123, HumanCyc Gene:HS12678, NCBI Gene:27077, RefSeq DNA:NT_010718, RefSeq Protein:NP_056496, RefSeq RNA:NM_015681, UniProtKB:Q9UPM9 No chr17 19240563 19281495 19335372 19378193 +PA162377347 80776 HGNC:28636 ENSG00000123810 B9 domain containing 2 B9D2 B9 protein domain 2 MGC4093, MKS10, MKSR-2 Yes No Ensembl:ENSG00000123810, GeneCard:B9D2, HGNC:HGNC:28636, HumanCyc Gene:HS13100, NCBI Gene:80776, OMIM:611951, RefSeq DNA:NG_013091, RefSeq DNA:NT_011109, RefSeq Protein:NP_085055, RefSeq RNA:NM_030578, UniProtKB:Q9BPU9 No chr19 41860322 41870078 41354417 41364540 +PA25230 79870 HGNC:14333 ENSG00000164929 BAALC binder of MAP3K1 and KLF4 BAALC """BAALC, MAP3K1 and KLF4 binding"", ""BAALC, MEKK1 and KLF4 binding"", ""brain and acute leukemia, cytoplasmic""" Yes No Ensembl:ENSG00000164929, GenAtlas:BAALC, GeneCard:BAALC, HGNC:HGNC:14333, HumanCyc Gene:HS15256, NCBI Gene:79870, OMIM:606602, RefSeq DNA:NT_008046, RefSeq Protein:NP_001019543, RefSeq Protein:NP_079088, RefSeq RNA:NM_001024372, RefSeq RNA:NM_024812, UCSC Genome Browser:NM_024812, UniProtKB:Q8WXS3 No chr8 104152921 104242533 103140693 103230305 +PA25231 570 HGNC:932 ENSG00000136881 bile acid-CoA:amino acid N-acyltransferase BAAT bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase), bile acid CoA:amino acid N-acyltransferase, choloyl-CoA hydrolase, glycine N-choloyltransferase BACAT, BAT Yes No Comparative Toxicogenomics Database:570, Ensembl:ENSG00000136881, GenAtlas:BAAT, GeneCard:BAAT, HGNC:HGNC:932, HumanCyc Gene:HS06239, ModBase:Q14032, NCBI Gene:570, OMIM:602938, OMIM:607748, RefSeq DNA:NG_009774, RefSeq DNA:NT_008470, RefSeq Protein:NP_001121082, RefSeq Protein:NP_001692, RefSeq RNA:NM_001127610, RefSeq RNA:NM_001701, UCSC Genome Browser:NM_001701, UniProtKB:Q14032 No chr9 104122699 104147287 101360417 101385005 +PA162378767 29086 HGNC:25008 ENSG00000105393 BRISC and BRCA1 A complex member 1 BABAM1 Mediator of Rap80 Interactions and Targeting 40 kD, new component of the BRCA1 A complex C19orf62, FLJ20571, HSPC142, MERIT40, NBA1 Yes No Ensembl:ENSG00000105393, GeneCard:C19orf62, HGNC:HGNC:25008, HumanCyc Gene:HS12587, ModBase:Q9NWV8, NCBI Gene:29086, OMIM:612766, RefSeq DNA:NT_011295, RefSeq Protein:NP_001028721, RefSeq Protein:NP_054892, RefSeq RNA:NM_001033549, RefSeq RNA:NM_014173, UniProtKB:Q9NWV8 No chr19 17378200 17390162 17267376 17279353 +PA25419 9577 HGNC:1106 ENSG00000158019 BRISC and BRCA1 A complex member 2 BABAM2 """BRCA1/BRCA2-containing complex, subunit 4"", ""brain and reproductive organ-expressed (TNFRSF1A modulator)""" BRCC4, BRCC45, BRE Yes No Comparative Toxicogenomics Database:9577, Ensembl:ENSG00000158019, GenAtlas:BRE, GeneCard:BRE, HGNC:HGNC:1106, HumanCyc Gene:HS08261, ModBase:Q9NXR7, NCBI Gene:9577, OMIM:610497, RefSeq DNA:NT_022184, RefSeq Protein:NP_004890, RefSeq Protein:NP_954661, RefSeq Protein:NP_954662, RefSeq Protein:NP_954663, RefSeq Protein:NP_954664, RefSeq RNA:NM_004899, RefSeq RNA:NM_199191, RefSeq RNA:NM_199192, RefSeq RNA:NM_199193, RefSeq RNA:NM_199194, UCSC Genome Browser:NM_004899, UniProtKB:Q9NXR7 No chr2 28113482 28561768 27890615 28338901 +PA142672232 124944 HGNC:28737 ENSG00000258315 BPTF associated chromatin complex component 1 BACC1 BPTF associated protein of 18 kDa, chromosome 17 open reading frame 49, human embryo lung cellular protein interacting with SARS-CoV nsp-10 BAP18, C17orf49, HEPIS, MGC49942 Yes No Ensembl:ENSG00000258315, GeneCard:C17orf49, HGNC:HGNC:28737, ModBase:Q8IXM2, NCBI Gene:124944, RefSeq DNA:NT_010718, RefSeq Protein:NP_001136270, RefSeq Protein:NP_001136271, RefSeq Protein:NP_777553, RefSeq RNA:NM_001142798, RefSeq RNA:NM_001142799, RefSeq RNA:NM_174893, UniProtKB:C9J4G0, UniProtKB:Q8IXM2 No chr17 6918056 6920843 7014737 7017524 +PA25232 23621 HGNC:933 ENSG00000186318 beta-secretase 1 BACE1 aspartyl protease 2, beta-site APP-cleaving enzyme 1, memapsin 2 Asp2, BACE Yes No Comparative Toxicogenomics Database:23621, Ensembl:ENSG00000186318, GenAtlas:BACE1, GeneCard:BACE1, HGNC:HGNC:933, HumanCyc Gene:HS08510, ModBase:P56817, NCBI Gene:23621, OMIM:604252, RefSeq DNA:NT_033899, RefSeq Protein:NP_001193977, RefSeq Protein:NP_001193978, RefSeq Protein:NP_036236, RefSeq Protein:NP_620427, RefSeq Protein:NP_620428, RefSeq Protein:NP_620429, RefSeq RNA:NM_001207048, RefSeq RNA:NM_001207049, RefSeq RNA:NM_012104, RefSeq RNA:NM_138971, RefSeq RNA:NM_138972, RefSeq RNA:NM_138973, UCSC Genome Browser:NM_012104, UniProtKB:P56817 No chr11 117156402 117186972 117285686 117316256 +PA165543228 100379571 HGNC:37125 ENSG00000278768 BACE1 antisense RNA BACE1-AS non-protein coding RNA 177 BACE1-AS1, FJ573250, NCRNA00177 Yes No Ensembl:ENSG00000278768, GeneCard:BACE1-AS, HGNC:HGNC:37125, NCBI Gene:100379571, RefSeq RNA:NR_037803 No chr11 117162062 117162859 117291346 117292170 +PA25233 25825 HGNC:934 ENSG00000182240 beta-secretase 2 BACE2 56 kDa aspartic-like protease, Down region aspartic protease, aspartyl protease 1, beta-site APP-cleaving enzyme 2, memapsin 1, theta-secretase AEPLC, ALP56, ASP1, CEAP1, DRAP Yes No Comparative Toxicogenomics Database:25825, Ensembl:ENSG00000182240, GenAtlas:BACE2, GeneCard:BACE2, HGNC:HGNC:934, ModBase:Q9Y5Z0, NCBI Gene:25825, OMIM:605668, RefSeq DNA:NT_011512, RefSeq Protein:NP_036237, RefSeq Protein:NP_620476, RefSeq Protein:NP_620477, RefSeq RNA:NM_012105, RefSeq RNA:NM_138991, RefSeq RNA:NM_138992, UCSC Genome Browser:NM_012105, UniProtKB:Q9Y5Z0 No chr21 42539728 42654461 41167801 41282534 +PA165378438 282569 HGNC:16024 ENSG00000224388 BACE2 intronic transcript 1 (non-protein coding) BACE2-IT1 PRED43 Yes No Ensembl:ENSG00000224388, GeneCard:NCRNA00228, HGNC:HGNC:16024, NCBI Gene:282569 No chr21 +PA25234 571 HGNC:935 ENSG00000156273 BTB domain and CNC homolog 1 BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 BACH-1, BTBD24 Yes Yes Comparative Toxicogenomics Database:571, Ensembl:ENSG00000156273, GenAtlas:BACH1, GeneCard:BACH1, HGNC:HGNC:935, HumanCyc Gene:HS08113, ModBase:O14867, NCBI Gene:571, OMIM:602751, RefSeq DNA:NT_011512, RefSeq Protein:NP_001011545, RefSeq Protein:NP_001177, RefSeq Protein:NP_996749, RefSeq RNA:NM_001011545, RefSeq RNA:NM_001186, RefSeq RNA:NM_206866, RefSeq RNA:NR_027655, UCSC Genome Browser:NM_001186, UniProtKB:O14867, UniProtKB:Q6ICU0 No chr21 30671151 30734257 29298795 29361896 +PA25235 60468 HGNC:14078 ENSG00000112182 BTB domain and CNC homolog 2 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 BTBD25 Yes No Comparative Toxicogenomics Database:60468, Ensembl:ENSG00000112182, GenAtlas:BACH2, GeneCard:BACH2, HGNC:HGNC:14078, HumanCyc Gene:HS03528, ModBase:Q9BYV9, NCBI Gene:60468, OMIM:605394, RefSeq DNA:NT_007299, RefSeq Protein:NP_001164265, RefSeq Protein:NP_068585, RefSeq RNA:NM_001170794, RefSeq RNA:NM_021813, UCSC Genome Browser:NM_021813, UniProtKB:Q9BYV9 No chr6 90636247 91006627 89926528 90296912 +PA25236 572 HGNC:936 ENSG00000002330 BCL2 associated agonist of cell death BAD BCL2-associated agonist of cell death BBC2, BCL2L8 Yes Yes Comparative Toxicogenomics Database:572, Ensembl:ENSG00000002330, GenAtlas:BAD, GeneCard:BAD, HGNC:HGNC:936, HumanCyc Gene:HS00079, NCBI Gene:572, OMIM:603167, RefSeq DNA:NT_167190, RefSeq Protein:NP_004313, RefSeq Protein:NP_116784, RefSeq RNA:NM_004322, RefSeq RNA:NM_032989, UCSC Genome Browser:NM_004322, UniProtKB:Q6FH21, UniProtKB:Q92934 No chr11 64037300 64052176 64269828 64284704 +PA25237 573 HGNC:937 ENSG00000107262 BAG cochaperone 1 BAG1 BCL2 associated athanogene 1, BCL2-associated athanogene Yes No Comparative Toxicogenomics Database:573, Ensembl:ENSG00000107262, GenAtlas:BAG1, GeneCard:BAG1, HGNC:HGNC:937, HumanCyc Gene:HS02983, NCBI Gene:573, OMIM:601497, RefSeq DNA:NT_008413, RefSeq Protein:NP_001165886, RefSeq Protein:NP_004314, RefSeq RNA:NM_001172415, RefSeq RNA:NM_004323, UCSC Genome Browser:NM_004323, UniProtKB:Q99933 No chr9 33252469 33264759 33252471 33264761 +PA25238 9532 HGNC:938 ENSG00000112208 BAG cochaperone 2 BAG2 BCL2 associated athanogene 2, BCL2-associated athanogene 2 Yes No Comparative Toxicogenomics Database:9532, Ensembl:ENSG00000112208, GenAtlas:BAG2, GeneCard:BAG2, HGNC:HGNC:938, HumanCyc Gene:HS03531, ModBase:O95816, NCBI Gene:9532, OMIM:603882, RefSeq DNA:NT_007592, RefSeq Protein:NP_004273, RefSeq RNA:NM_004282, UCSC Genome Browser:NM_004282, UniProtKB:O95816 No chr6 57037104 57050013 57172306 57185215 +PA25239 9531 HGNC:939 ENSG00000151929 BAG cochaperone 3 BAG3 BAG family molecular chaperone regulator 3, BCL2 associated athanogene 3, BCL2-associated athanogene 3 Yes No Comparative Toxicogenomics Database:9531, Ensembl:ENSG00000151929, GenAtlas:BAG3, GeneCard:BAG3, HGNC:HGNC:939, HumanCyc Gene:HS07781, ModBase:O95817, NCBI Gene:9531, OMIM:603883, OMIM:612954, RefSeq DNA:NG_016125, RefSeq DNA:NT_030059, RefSeq Protein:NP_004272, RefSeq RNA:NM_004281, UCSC Genome Browser:NM_004281, UniProtKB:O95817 No chr10 121410859 121437331 119651347 119677819 +PA25240 9530 HGNC:940 ENSG00000156735 BAG cochaperone 4 BAG4 BCL2 associated athanogene 4, BCL2-associated athanogene 4, silencer of death domains SODD Yes No Comparative Toxicogenomics Database:9530, Ensembl:ENSG00000156735, GenAtlas:BAG4, GeneCard:BAG4, HGNC:HGNC:940, HumanCyc Gene:HS08150, ModBase:O95429, NCBI Gene:9530, OMIM:603884, RefSeq DNA:NT_167187, RefSeq Protein:NP_001191807, RefSeq Protein:NP_004865, RefSeq RNA:NM_001204878, RefSeq RNA:NM_004874, UCSC Genome Browser:NM_004874, UniProtKB:O95429 No chr8 38034106 38070819 38176588 38213301 +PA25241 9529 HGNC:941 ENSG00000166170 BAG cochaperone 5 BAG5 BCL2 associated athanogene 5, BCL2-associated athanogene 5 Yes No Comparative Toxicogenomics Database:9529, Ensembl:ENSG00000166170, GenAtlas:BAG5, GeneCard:BAG5, HGNC:HGNC:941, HumanCyc Gene:HS09347, ModBase:Q9UL15, NCBI Gene:9529, OMIM:603885, RefSeq DNA:NT_026437, RefSeq Protein:NP_001015048, RefSeq Protein:NP_001015049, RefSeq Protein:NP_004864, RefSeq RNA:NM_001015048, RefSeq RNA:NM_001015049, RefSeq RNA:NM_004873, UCSC Genome Browser:NM_004873, UniProtKB:Q9UL15 No chr14 104022881 104029151 103556544 103562814 +PA25264 7917 HGNC:13919 ENSG00000096155, ENSG00000204463, ENSG00000229524, ENSG00000233348 BAG cochaperone 6 BAG6 BCL2 associated athanogene 6, BCL2-associated athanogene 6 BAT3, D6S52E, G3, Scythe Yes Yes Comparative Toxicogenomics Database:7917, Ensembl:ENSG00000096155, Ensembl:ENSG00000204463, Ensembl:ENSG00000229524, Ensembl:ENSG00000233348, GenAtlas:BAT3, GeneCard:BAT3, HGNC:HGNC:13919, HumanCyc Gene:HS01852, ModBase:Q5STX3, NCBI Gene:7917, OMIM:142590, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001092004, RefSeq Protein:NP_001186626, RefSeq Protein:NP_001186627, RefSeq Protein:NP_004630, RefSeq Protein:NP_542433, RefSeq Protein:NP_542434, RefSeq RNA:NM_001098534, RefSeq RNA:NM_001199697, RefSeq RNA:NM_001199698, RefSeq RNA:NM_004639, RefSeq RNA:NM_080702, RefSeq RNA:NM_080703, UCSC Genome Browser:NM_004639, UniProtKB:P46379 No chr6 31606805 31620953 31639028 31660900 +PA25242 574 HGNC:942 B melanoma antigen BAGE cancer/testis antigen family 2, member 1 BAGE1, CT2.1 Yes No GenAtlas:BAGE, GeneCard:BAGE, HGNC:HGNC:942, NCBI Gene:574, OMIM:605167, RefSeq DNA:NT_029490, RefSeq Protein:NP_001178, RefSeq RNA:NM_001187, UCSC Genome Browser:NM_001187, UniProtKB:Q13072 No chr21 +PA25243 85319 HGNC:15723 ENSG00000187172 B melanoma antigen family, member 2 BAGE2 cancer/testis antigen family 2, member 2 CT2.2 Yes No Ensembl:ENSG00000187172, GenAtlas:BAGE2, GeneCard:BAGE2, HGNC:HGNC:15723, NCBI Gene:85319, RefSeq DNA:NT_029490, RefSeq DNA:NT_079596, RefSeq Protein:NP_872288, RefSeq RNA:NM_182482, UCSC Genome Browser:NM_182482 No chr21 11020842 11098925 10413532 10491615 +PA25244 85318 HGNC:15728 BAGE family member 3 BAGE3 """B melanoma antigen family, member 3"", ""cancer/testis antigen family 2, member 3""" CT2.3 Yes No GenAtlas:BAGE3, GeneCard:BAGE3, HGNC:HGNC:15728, NCBI Gene:85318, RefSeq DNA:NT_029490, RefSeq DNA:NT_079596, RefSeq Protein:NP_872287, RefSeq RNA:NM_182481, UCSC Genome Browser:NM_182481, UniProtKB:Q86Y29 No chr21 +PA25245 85317 HGNC:15730 BAGE family member 4 BAGE4 """B melanoma antigen family, member 4"", ""cancer/testis antigen family 2, member 4""" CT2.4, MLL3P Yes No GenAtlas:BAGE4, GeneCard:BAGE4, HGNC:HGNC:15730, NCBI Gene:85317, RefSeq DNA:NT_029490, RefSeq Protein:NP_859055, RefSeq RNA:NM_181704, UCSC Genome Browser:NM_181704, UniProtKB:Q86Y28 No chr21 +PA25246 85316 HGNC:15732 BAGE family member 5 BAGE5 """B melanoma antigen family, member 5"", ""cancer/testis antigen family 2, member 5""" CT2.5 Yes No GenAtlas:BAGE5, GeneCard:BAGE5, HGNC:HGNC:15732, NCBI Gene:85316, RefSeq Protein:NP_872290, RefSeq RNA:NM_182484, UCSC Genome Browser:NM_182484, UniProtKB:Q86Y27 No chr13 +PA128394719 57597 HGNC:29279 ENSG00000266074 BAH domain and coiled-coil containing 1 BAHCC1 BAHD2, KIAA1447 Yes No Ensembl:ENSG00000266074, GeneCard:BAHCC1, HGNC:HGNC:29279, NCBI Gene:57597, RefSeq DNA:NT_010783, RefSeq Protein:NP_001073988, RefSeq RNA:NM_001080519, UCSC Genome Browser:NM_024696, UniProtKB:Q9P281 No chr17 79373540 79433358 81395431 81466332 +PA128394592 22893 HGNC:29153 ENSG00000140320 bromo adjacent homology domain containing 1 BAHD1 KIAA0945 Yes Yes Ensembl:ENSG00000140320, GeneCard:BAHD1, HGNC:HGNC:29153, HumanCyc Gene:HS06702, ModBase:Q8TBE0, NCBI Gene:22893, RefSeq DNA:NT_010194, RefSeq Protein:NP_055767, RefSeq RNA:NM_014952, UCSC Genome Browser:NM_014952, UniProtKB:Q8TBE0 No chr15 40733411 40760441 40439721 40468242 +PA25251 10458 HGNC:947 ENSG00000175866 BAR/IMD domain containing adaptor protein 2 BAIAP2 BAI1 associated protein 2, BAI1-associated protein 2, WASP and MIM like, insulin receptor substrate of 53 kDa BAP2, IRSp53, WAML Yes No Comparative Toxicogenomics Database:10458, Ensembl:ENSG00000175866, GenAtlas:BAIAP2, GeneCard:BAIAP2, HGNC:HGNC:947, HumanCyc Gene:HS10980, ModBase:Q9UQB8, NCBI Gene:10458, OMIM:605475, RefSeq DNA:NT_010783, RefSeq Protein:NP_001138360, RefSeq Protein:NP_006331, RefSeq Protein:NP_059344, RefSeq Protein:NP_059345, RefSeq RNA:NM_001144888, RefSeq RNA:NM_006340, RefSeq RNA:NM_017450, RefSeq RNA:NM_017451, UCSC Genome Browser:NM_006340, UniProtKB:Q9UQB8 No chr17 79008944 79091232 81035147 81117432 +PA142672562 55971 HGNC:21649 ENSG00000006453 BAR/IMD domain containing adaptor protein 2 like 1 BAIAP2L1 BAI1 associated protein 2 like 1, BAI1-associated protein 2-like 1, insulin receptor tyrosine kinase substrate IRTKS Yes No Comparative Toxicogenomics Database:55971, Ensembl:ENSG00000006453, GeneCard:BAIAP2L1, HGNC:HGNC:21649, HumanCyc Gene:HS12011, ModBase:Q9UHR4, NCBI Gene:55971, OMIM:611877, RefSeq DNA:NG_013090, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_061330, RefSeq RNA:NM_018842, UniProtKB:Q9UHR4 No chr7 97920962 98030427 98291650 98401115 +PA142672563 80115 HGNC:26203 ENSG00000128298 BAR/IMD domain containing adaptor protein 2 like 2 BAIAP2L2 BAI1 associated protein 2 like 2, BAI1-associated protein 2-like 2, planar intestinal- and kidney-specific BAR domain protein FLJ22582, pinkbar Yes No Comparative Toxicogenomics Database:80115, Ensembl:ENSG00000128298, GeneCard:BAIAP2L2, HGNC:HGNC:26203, HumanCyc Gene:HS13254, ModBase:Q6UXY1, NCBI Gene:80115, RefSeq DNA:NT_011520, RefSeq Protein:NP_079321, RefSeq RNA:NM_025045, UniProtKB:Q6UXY1 No chr22 38480896 38506971 38084889 38110944 +PA25252 8938 HGNC:948 ENSG00000007516 BAI1 associated protein 3 BAIAP3 BAI1-associated protein 3 BAP3, KIAA0734 Yes No Comparative Toxicogenomics Database:8938, Ensembl:ENSG00000007516, GenAtlas:BAIAP3, GeneCard:BAIAP3, HGNC:HGNC:948, HumanCyc Gene:HS00217, ModBase:O94812, NCBI Gene:8938, OMIM:604009, RefSeq DNA:NT_010393, RefSeq Protein:NP_001186025, RefSeq Protein:NP_001186026, RefSeq Protein:NP_001186027, RefSeq Protein:NP_001186028, RefSeq Protein:NP_003924, RefSeq RNA:NM_001199096, RefSeq RNA:NM_001199097, RefSeq RNA:NM_001199098, RefSeq RNA:NM_001199099, RefSeq RNA:NM_003933, UCSC Genome Browser:NM_003933, UniProtKB:O94812 No chr16 1383606 1399442 1333605 1349441 +PA25253 578 HGNC:949 ENSG00000030110 BCL2 antagonist/killer 1 BAK1 BCL2-antagonist/killer 1 BAK, BCL2L7, CDN1 Yes No Comparative Toxicogenomics Database:578, Ensembl:ENSG00000030110, GenAtlas:BAK1, GeneCard:BAK1, HGNC:HGNC:949, HumanCyc Gene:HS00476, ModBase:Q16611, NCBI Gene:578, OMIM:600516, RefSeq DNA:NT_007592, RefSeq Protein:NP_001179, RefSeq RNA:NM_001188, UCSC Genome Browser:NM_001188, UniProtKB:Q16611 No chr6 33540323 33548072 33572546 33580293 +PA25308 600 HGNC:996 ENSG00000175730 BCL2-antagonist/killer 1 pseudogene 1 BAK1P1 BAK2 Yes No Ensembl:ENSG00000175730, GenAtlas:BCL2L7P1, GeneCard:BAK1P1, HGNC:HGNC:996, ModBase:Q13014, NCBI Gene:600, RefSeq DNA:NG_000850, RefSeq DNA:NT_011362, RefSeq DNA:NT_028392 No chr20 31276732 31278856 32688930 32691054 +PA25309 601 HGNC:997 ENSG00000236616 BCL2-antagonist/killer 1 pseudogene 2 BAK1P2 BAK3, BAK3P Yes No Ensembl:ENSG00000236616, GenAtlas:BCL2L7P2, GeneCard:BAK1P2, HGNC:HGNC:997, NCBI Gene:601, RefSeq DNA:NG_005599, RefSeq DNA:NT_033899 No chr11 130415438 130417549 130545543 130547654 +PA134909139 25805 HGNC:30251 ENSG00000095739 BMP and activin membrane bound inhibitor BAMBI BMP and activin membrane-bound inhibitor, BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) NMA Yes No Comparative Toxicogenomics Database:25805, Ensembl:ENSG00000095739, GeneCard:BAMBI, HGNC:HGNC:30251, HumanCyc Gene:HS01832, ModBase:Q13145, NCBI Gene:25805, OMIM:604444, RefSeq DNA:NT_008705, RefSeq Protein:NP_036474, RefSeq RNA:NM_012342, UniProtKB:Q13145 No chr10 28966424 28971868 28677495 28682939 +PA134903639 8815 HGNC:17397 ENSG00000175334 barrier to autointegration nuclear assembly factor 1 BANF1 barrier to autointegration factor 1 BAF Yes No Comparative Toxicogenomics Database:8815, Ensembl:ENSG00000175334, GeneCard:BANF1, HGNC:HGNC:17397, HumanCyc Gene:HS10914, NCBI Gene:8815, OMIM:603811, RefSeq DNA:NT_167190, RefSeq Protein:NP_001137457, RefSeq Protein:NP_003851, RefSeq RNA:NM_001143985, RefSeq RNA:NM_003860, UniProtKB:O75531 No chr11 65769550 65771617 66002079 66004149 +PA134910488 317687 HGNC:20252 ENSG00000258531 barrier to autointegration factor 1 pseudogene 1 BANF1P1 BCRG1, BCRP1, D14S1460, D14S1460E Yes No Ensembl:ENSG00000258531, GeneCard:BANF1P1, HGNC:HGNC:20252, NCBI Gene:317687, RefSeq DNA:NG_002455, RefSeq DNA:NT_026437 No chr14 69403264 69403961 68936547 68937244 +PA134949851 414169 HGNC:23426 ENSG00000230306 barrier to autointegration factor 1 pseudogene 2 BANF1P2 bA122K13.8 Yes No Ensembl:ENSG00000230306, GeneCard:BANF1P2, HGNC:HGNC:23426, NCBI Gene:414169 No chr10 135157764 135158505 133344278 133344999 +PA162377348 140836 HGNC:16172 ENSG00000125888 BANF family member 2 BANF2 barrier to autointegration factor 2 BAF-L, BAF2, BAFL, C20orf179, dJ803K15.1 Yes No Ensembl:ENSG00000125888, GeneCard:BANF2, HGNC:HGNC:16172, ModBase:Q9H503, NCBI Gene:140836, RefSeq DNA:NT_011387, RefSeq Protein:NP_001014977, RefSeq Protein:NP_001152967, RefSeq Protein:NP_848572, RefSeq RNA:NM_001014977, RefSeq RNA:NM_001159495, RefSeq RNA:NM_178477, UniProtKB:Q9H503 No chr20 17674320 17716517 17693675 17735872 +PA128394677 55024 HGNC:18233 ENSG00000153064 B cell scaffold protein with ankyrin repeats 1 BANK1 B-cell scaffold protein with ankyrin repeats 1 BANK, FLJ20706 Yes No Comparative Toxicogenomics Database:55024, Ensembl:ENSG00000153064, GeneCard:BANK1, HGNC:HGNC:18233, HumanCyc Gene:HS14453, ModBase:Q8NDB2, NCBI Gene:55024, OMIM:152700, OMIM:610292, RefSeq DNA:NG_015824, RefSeq DNA:NT_016354, RefSeq Protein:NP_001077376, RefSeq Protein:NP_001120979, RefSeq Protein:NP_060405, RefSeq RNA:NM_001083907, RefSeq RNA:NM_001127507, RefSeq RNA:NM_017935, UCSC Genome Browser:NM_017935, UniProtKB:Q8NDB2 No chr4 102711764 102995969 101790482 102074812 +PA134933411 54971 HGNC:13450 ENSG00000172530 BTG3 associated nuclear protein BANP BEN domain containing 1 BEND1, DKFZp761H172, FLJ10177, FLJ20538, SMAR1, SMARBP1 Yes No Comparative Toxicogenomics Database:54971, Ensembl:ENSG00000172530, GeneCard:BANP, HGNC:HGNC:13450, HumanCyc Gene:HS16095, NCBI Gene:54971, OMIM:611564, RefSeq DNA:NT_010498, RefSeq Protein:NP_001167010, RefSeq Protein:NP_001167011, RefSeq Protein:NP_001167012, RefSeq Protein:NP_001167013, RefSeq Protein:NP_001167014, RefSeq Protein:NP_060339, RefSeq Protein:NP_524576, RefSeq RNA:NM_001173539, RefSeq RNA:NM_001173540, RefSeq RNA:NM_001173541, RefSeq RNA:NM_001173542, RefSeq RNA:NM_001173543, RefSeq RNA:NM_017869, RefSeq RNA:NM_079837, UniProtKB:A8MX25, UniProtKB:B2RCF7, UniProtKB:B3KM38, UniProtKB:B4DE54, UniProtKB:B4DNJ9, UniProtKB:Q8N9N5 No chr16 87984231 88110924 87949216 88077318 +PA25254 8314 HGNC:950 ENSG00000163930 BRCA1 associated deubiquitinase 1 BAP1 BRCA1 associated protein 1, BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase), ubiquitin carboxy-terminal hydrolase, ubiquitin carboxy-terminal hydrolase L2 KIAA0272, UCHL2, hucep-6 Yes No Comparative Toxicogenomics Database:8314, Ensembl:ENSG00000163930, GenAtlas:BAP1, GeneCard:BAP1, HGNC:HGNC:950, HumanCyc Gene:HS08967, ModBase:Q92560, NCBI Gene:8314, OMIM:603089, RefSeq DNA:NT_022517, RefSeq Protein:NP_004647, RefSeq RNA:NM_004656, UCSC Genome Browser:NM_004656, UniProtKB:Q92560 No chr3 52435020 52444121 52401004 52410105 +PA25256 580 HGNC:952 ENSG00000138376 BRCA1 associated RING domain 1 BARD1 Yes Yes Comparative Toxicogenomics Database:580, Ensembl:ENSG00000138376, GenAtlas:BARD1, GeneCard:BARD1, HGNC:HGNC:952, HumanCyc Gene:HS06492, ModBase:Q99728, NCBI Gene:580, OMIM:114480, OMIM:601593, RefSeq DNA:NG_012047, RefSeq DNA:NT_005403, RefSeq Protein:NP_000456, RefSeq RNA:NM_000465, UCSC Genome Browser:NM_000465, UniProtKB:A0AVN2, UniProtKB:Q99728 No chr2 215590370 215674428 214725645 214809711 +PA25257 56751 HGNC:953 ENSG00000125492 BarH like homeobox 1 BARHL1 BarH-like homeobox 1 Yes No Comparative Toxicogenomics Database:56751, Ensembl:ENSG00000125492, GenAtlas:BARHL1, GeneCard:BARHL1, HGNC:HGNC:953, HumanCyc Gene:HS04895, ModBase:Q9BZE3, NCBI Gene:56751, OMIM:605211, RefSeq DNA:NT_035014, RefSeq Protein:NP_064448, RefSeq RNA:NM_020064, UCSC Genome Browser:NM_020064, UniProtKB:Q5T6V2, UniProtKB:Q9BZE3 No chr9 135457993 135465640 132582606 132590253 +PA25258 343472 HGNC:954 ENSG00000143032 BarH like homeobox 2 BARHL2 BarH-like homeobox 2 Yes No Ensembl:ENSG00000143032, GenAtlas:BARHL2, GeneCard:BARHL2, HGNC:HGNC:954, ModBase:Q9NY43, NCBI Gene:343472, OMIM:605212, RefSeq DNA:NT_032977, RefSeq Protein:NP_064447, RefSeq RNA:NM_020063, UniProtKB:Q9NY43 No chr1 91177579 91182794 90712022 90717237 +PA25259 56033 HGNC:955 ENSG00000131668 BARX homeobox 1 BARX1 Yes No Comparative Toxicogenomics Database:56033, Ensembl:ENSG00000131668, GenAtlas:BARX1, GeneCard:BARX1, HGNC:HGNC:955, HumanCyc Gene:HS05549, ModBase:Q9HBU1, NCBI Gene:56033, OMIM:603260, RefSeq DNA:NT_008470, RefSeq Protein:NP_067545, RefSeq RNA:NM_021570, UCSC Genome Browser:NM_021570, UniProtKB:Q9HBU1 No chr9 96713909 96717608 93951627 93955326 +PA25260 8538 HGNC:956 ENSG00000043039 BARX homeobox 2 BARX2 Yes No Comparative Toxicogenomics Database:8538, Ensembl:ENSG00000043039, GenAtlas:BARX2, GeneCard:BARX2, HGNC:HGNC:956, HumanCyc Gene:HS00567, ModBase:Q9UMQ3, NCBI Gene:8538, OMIM:604823, RefSeq DNA:NT_033899, RefSeq Protein:NP_003649, RefSeq RNA:NM_003658, UCSC Genome Browser:NM_003658, UniProtKB:Q9UMQ3 No chr11 129245879 129322174 129375237 129452279 +PA25261 10409 HGNC:957 ENSG00000176788 brain abundant membrane attached signal protein 1 BASP1 brain abundant, membrane attached signal protein 1 CAP-23, CAP23, NAP-22, NAP22 Yes No Comparative Toxicogenomics Database:10409, Ensembl:ENSG00000176788, GenAtlas:BASP1, GeneCard:BASP1, HGNC:HGNC:957, HumanCyc Gene:HS11086, ModBase:P80723, NCBI Gene:10409, OMIM:605940, RefSeq DNA:NT_006576, RefSeq Protein:NP_006308, RefSeq RNA:NM_006317, UCSC Genome Browser:NM_006317, UniProtKB:P80723 No chr5 17216932 17276954 17216823 17276845 +PA25268 10538 HGNC:958 ENSG00000156127 basic leucine zipper ATF-like transcription factor BATF """SF-HT-activated gene 2"", ""activating transcription factor B"", ""basic leucine zipper transcription factor, ATF-like""" B-ATF, BATF1, SFA-2 Yes No Ensembl:ENSG00000156127, GenAtlas:BATF, GeneCard:BATF, HGNC:HGNC:958, HumanCyc Gene:HS08099, ModBase:Q16520, NCBI Gene:10538, OMIM:612476, RefSeq DNA:NT_026437, RefSeq Protein:NP_006390, RefSeq RNA:NM_006399, UCSC Genome Browser:NM_006399, UniProtKB:Q16520 No chr14 75988784 76013335 75522441 75546992 +PA143485315 116071 HGNC:25163 ENSG00000168062 basic leucine zipper ATF-like transcription factor 2 BATF2 """basic leucine zipper transcription factor, ATF-like 2"", ""suppressor of AP-1, regulated by IFN""" MGC20410, SARI Yes No Comparative Toxicogenomics Database:116071, Ensembl:ENSG00000168062, GeneCard:BATF2, HGNC:HGNC:25163, ModBase:Q8N1L9, NCBI Gene:116071, RefSeq DNA:NT_167190, RefSeq Protein:NP_612465, RefSeq RNA:NM_138456, UniProtKB:Q8N1L9 No chr11 64755417 64765060 64987945 64997045 +PA162377349 55509 HGNC:28915 ENSG00000123685 basic leucine zipper ATF-like transcription factor 3 BATF3 """Jun dimerization protein 1"", ""basic leucine zipper transcription factor, ATF-like 3""" JDP1, JUNDM1, SNFT Yes No Ensembl:ENSG00000123685, GeneCard:BATF3, HGNC:HGNC:28915, HumanCyc Gene:HS04684, ModBase:Q9NR55, NCBI Gene:55509, OMIM:612470, RefSeq DNA:NT_167186, RefSeq Protein:NP_061134, RefSeq RNA:NM_018664, UniProtKB:Q9NR55 No chr1 212859759 212873327 212686417 212699985 +PA25269 581 HGNC:959 ENSG00000087088 BCL2 associated X, apoptosis regulator BAX BCL2-associated X protein BCL2L4 Yes No Comparative Toxicogenomics Database:581, Ensembl:ENSG00000087088, GenAtlas:BAX, GeneCard:BAX, HGNC:HGNC:959, HumanCyc Gene:HS01555, ModBase:P55269, ModBase:Q07812, ModBase:Q07814, ModBase:Q07815, NCBI Gene:581, OMIM:600040, RefSeq DNA:NG_012191, RefSeq DNA:NT_011109, RefSeq Protein:NP_004315, RefSeq Protein:NP_620116, RefSeq Protein:NP_620118, RefSeq Protein:NP_620119, RefSeq Protein:NP_620120, RefSeq RNA:NM_004324, RefSeq RNA:NM_138761, RefSeq RNA:NM_138763, RefSeq RNA:NM_138764, RefSeq RNA:NM_138765, RefSeq RNA:NR_027882, UCSC Genome Browser:NM_004324, UniProtKB:Q07812 No chr19 49458117 49465055 48954825 48961798 +PA25270 11177 HGNC:960 ENSG00000198604 bromodomain adjacent to zinc finger domain 1A BAZ1A bromodomain adjacent to zinc finger domain, 1A ACF1, WALp1, WCRF180, hACF1 Yes No Comparative Toxicogenomics Database:11177, Ensembl:ENSG00000198604, GenAtlas:BAZ1A, GeneCard:BAZ1A, HGNC:HGNC:960, ModBase:Q9NRL2, NCBI Gene:11177, OMIM:605680, RefSeq DNA:NT_026437, RefSeq Protein:NP_038476, RefSeq Protein:NP_872589, RefSeq RNA:NM_013448, RefSeq RNA:NM_182648, UCSC Genome Browser:NM_013448, UniProtKB:Q9NRL2 No chr14 35221937 35344853 34752731 34875647 +PA25271 9031 HGNC:961 ENSG00000009954 bromodomain adjacent to zinc finger domain 1B BAZ1B """Williams-Beuren syndrome chromosome region 10"", ""Williams-Beuren syndrome chromosome region 9"", ""bromodomain adjacent to zinc finger domain, 1B"", ""transcription factor WSTF""" WBSCR10, WBSCR9, WSTF Yes No Comparative Toxicogenomics Database:9031, Ensembl:ENSG00000009954, GenAtlas:BAZ1B, GeneCard:BAZ1B, HGNC:HGNC:961, HumanCyc Gene:HS00270, ModBase:Q9UIG0, NCBI Gene:9031, OMIM:605681, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_115784, RefSeq RNA:NM_032408, UCSC Genome Browser:NM_023005, UniProtKB:Q9UIG0 No chr7 72854728 72936628 73440398 73522298 +PA25272 11176 HGNC:962 ENSG00000076108 bromodomain adjacent to zinc finger domain 2A BAZ2A """TTF-I interacting peptide 5"", ""bromodomain adjacent to zinc finger domain, 2A""" KIAA0314, TIP5, WALp3 Yes No Comparative Toxicogenomics Database:11176, Ensembl:ENSG00000076108, GenAtlas:BAZ2A, GeneCard:BAZ2A, HGNC:HGNC:962, HumanCyc Gene:HS01201, NCBI Gene:11176, OMIM:605682, RefSeq DNA:NT_029419, RefSeq Protein:NP_038477, RefSeq RNA:NM_013449, UCSC Genome Browser:NM_013449, UniProtKB:Q9UIF9 No chr12 56989380 57030600 56595596 56636816 +PA25273 29994 HGNC:963 ENSG00000123636 bromodomain adjacent to zinc finger domain 2B BAZ2B bromodomain adjacent to zinc finger domain, 2B WALp4 Yes Yes Comparative Toxicogenomics Database:29994, Ensembl:ENSG00000123636, GenAtlas:BAZ2B, GeneCard:BAZ2B, HGNC:HGNC:963, HumanCyc Gene:HS04681, ModBase:Q9UIF8, NCBI Gene:29994, OMIM:605683, RefSeq DNA:NT_005403, RefSeq Protein:NP_038478, RefSeq RNA:NM_013450, UCSC Genome Browser:NM_013450, UniProtKB:Q9UIF8 No chr2 160175490 160473059 159315312 159712439 +PA38471 27113 HGNC:17868 ENSG00000105327 BCL2 binding component 3 BBC3 p53-upregulated modulator of apoptosis JFY1, PUMA Yes No Comparative Toxicogenomics Database:27113, Ensembl:ENSG00000105327, GenAtlas:BBC3, GeneCard:BBC3, HGNC:HGNC:17868, HumanCyc Gene:HS12584, ModBase:Q9BXH1, NCBI Gene:27113, OMIM:605854, RefSeq DNA:NT_011109, RefSeq Protein:NP_001120712, RefSeq Protein:NP_001120713, RefSeq Protein:NP_001120714, RefSeq Protein:NP_055232, RefSeq RNA:NM_001127240, RefSeq RNA:NM_001127241, RefSeq RNA:NM_001127242, RefSeq RNA:NM_014417, UCSC Genome Browser:NM_014417, UniProtKB:Q96PG8, UniProtKB:Q9BXH1 No chr19 47724079 47736023 47220822 47232998 +PA164723577 92482 HGNC:28093 ENSG00000214413 BBSome interacting protein 1 BBIP1 BBIP10, BBS18, NCRNA00081, bA348N5.3 Yes No Ensembl:ENSG00000214413, GeneCard:NCRNA00081, HGNC:HGNC:28093, NCBI Gene:92482, RefSeq DNA:NT_030059, RefSeq Protein:NP_001182233, RefSeq Protein:NP_001182234, RefSeq Protein:NP_001182235, RefSeq Protein:NP_001182236, RefSeq RNA:NM_001195304, RefSeq RNA:NM_001195305, RefSeq RNA:NM_001195306, RefSeq RNA:NM_001195307, RefSeq RNA:NR_015402, RefSeq RNA:NR_024140, RefSeq RNA:NR_024141, RefSeq RNA:NR_024142, RefSeq RNA:NR_024143 No chr10 112658488 112679124 110898730 110919366 +PA166352182 79095 HGNC:17823 bublin coiled coil protein BBLN C9orf16, EST00098, FLJ12823, Hero9, MGC4639 Yes No HGNC:HGNC:17823, NCBI Gene:79095 No 0 0 0 0 +PA134886442 80127 HGNC:19855 ENSG00000119636 basal body orientation factor 1 BBOF1 coiled-coil domain containing 176 C14orf45, CCDC176, FBB10 Yes No Ensembl:ENSG00000119636, GeneCard:C14orf45, HGNC:HGNC:19855, HumanCyc Gene:HS12947, NCBI Gene:80127, RefSeq DNA:NT_026437, RefSeq Protein:NP_079333, RefSeq RNA:NM_025057, UniProtKB:Q8ND07 No chr14 74486054 74532795 74019350 74078351 +PA25274 8424 HGNC:964 ENSG00000129151 gamma-butyrobetaine hydroxylase 1 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 BBH, BBOX, G-BBH, gamma-BBH Yes No Comparative Toxicogenomics Database:8424, Ensembl:ENSG00000129151, GenAtlas:BBOX1, GeneCard:BBOX1, HGNC:HGNC:964, HumanCyc Gene:HS05246, ModBase:O75936, NCBI Gene:8424, OMIM:603312, RefSeq DNA:NT_009237, RefSeq Protein:NP_003977, RefSeq RNA:NM_003986, UCSC Genome Browser:NM_003986, UniProtKB:O75936 No chr11 27062252 27149354 27040705 27127807 +PA25275 582 HGNC:966 ENSG00000174483 Bardet-Biedl syndrome 1 BBS1 FLJ23590 Yes No Comparative Toxicogenomics Database:582, Ensembl:ENSG00000174483, GenAtlas:BBS1, GeneCard:BBS1, HGNC:HGNC:966, ModBase:Q8NFJ9, NCBI Gene:582, OMIM:209900, OMIM:209901, RefSeq DNA:NG_009093, RefSeq DNA:NT_167190, RefSeq Protein:NP_078925, RefSeq RNA:NM_024649, UCSC Genome Browser:NM_024649, UniProtKB:Q8NFJ9 No chr11 66278077 66301084 66510648 66533613 +PA143485387 79738 HGNC:26291 ENSG00000179941 Bardet-Biedl syndrome 10 BBS10 C12orf58, FLJ23560 Yes No Comparative Toxicogenomics Database:79738, Ensembl:ENSG00000179941, GeneCard:BBS10, HGNC:HGNC:26291, ModBase:Q8TAM1, NCBI Gene:79738, OMIM:209900, OMIM:610148, RefSeq DNA:NG_016357, RefSeq DNA:NT_029419, RefSeq Protein:NP_078961, RefSeq RNA:NM_024685, UniProtKB:Q8TAM1 No chr12 76738266 76742222 76344486 76348442 +PA162377350 166379 HGNC:26648 ENSG00000181004 Bardet-Biedl syndrome 12 BBS12 C4orf24, FLJ35630, FLJ41559 Yes No Ensembl:ENSG00000181004, GeneCard:BBS12, HGNC:HGNC:26648, HumanCyc Gene:HS17610, ModBase:Q6ZW61, NCBI Gene:166379, OMIM:209900, OMIM:610683, RefSeq DNA:NG_021203, RefSeq DNA:NT_016354, RefSeq Protein:NP_001171478, RefSeq Protein:NP_689831, RefSeq RNA:NM_001178007, RefSeq RNA:NM_152618, UniProtKB:Q6ZW61 No chr4 123653857 123666098 122700437 122744943 +PA25276 583 HGNC:967 ENSG00000125124 Bardet-Biedl syndrome 2 BBS2 BBS Yes No Comparative Toxicogenomics Database:583, Ensembl:ENSG00000125124, GenAtlas:BBS2, GeneCard:BBS2, HGNC:HGNC:967, HumanCyc Gene:HS04853, ModBase:Q9BXC9, NCBI Gene:583, OMIM:209900, OMIM:606151, RefSeq DNA:NG_009312, RefSeq DNA:NT_010498, RefSeq Protein:NP_114091, RefSeq RNA:NM_031885, UCSC Genome Browser:NM_031885, UniProtKB:Q9BXC9 No chr16 56504301 56554008 56470403 56520096 +PA25278 585 HGNC:969 ENSG00000140463 Bardet-Biedl syndrome 4 BBS4 Yes No Comparative Toxicogenomics Database:585, Ensembl:ENSG00000140463, GenAtlas:BBS4, GeneCard:BBS4, HGNC:HGNC:969, HumanCyc Gene:HS13832, ModBase:Q96RK4, NCBI Gene:585, OMIM:209900, OMIM:600374, RefSeq DNA:NG_009416, RefSeq DNA:NT_010194, RefSeq Protein:NP_149017, RefSeq RNA:NM_033028, UCSC Genome Browser:NM_033028, UniProtKB:Q96RK4 No chr15 72978520 73030817 72686179 72738476 +PA25279 129880 HGNC:970 ENSG00000163093 Bardet-Biedl syndrome 5 BBS5 DKFZp762I194 Yes No Comparative Toxicogenomics Database:129880, Ensembl:ENSG00000163093, GenAtlas:BBS5, GeneCard:BBS5, HGNC:HGNC:970, HumanCyc Gene:HS15021, ModBase:Q8N3I7, NCBI Gene:129880, OMIM:209900, OMIM:603650, RefSeq DNA:NG_011567, RefSeq DNA:NT_005403, RefSeq Protein:NP_689597, RefSeq RNA:NM_152384, UniProtKB:Q8N3I7 No chr2 170335967 170363165 169479496 169506655 +PA134923753 55212 HGNC:18758 ENSG00000138686 Bardet-Biedl syndrome 7 BBS7 BBS2L1, FLJ10715 Yes No Comparative Toxicogenomics Database:55212, Ensembl:ENSG00000138686, GeneCard:BBS7, HGNC:HGNC:18758, HumanCyc Gene:HS13741, ModBase:Q8IWZ6, NCBI Gene:55212, OMIM:209900, OMIM:607590, RefSeq DNA:NG_009111, RefSeq DNA:NT_016354, RefSeq Protein:NP_060660, RefSeq Protein:NP_789794, RefSeq RNA:NM_018190, RefSeq RNA:NM_176824, UniProtKB:Q8IWZ6 No chr4 122745484 122791652 121824329 121870520 +PA162377359 27241 HGNC:30000 ENSG00000122507 Bardet-Biedl syndrome 9 BBS9 parathyroid hormone responsive B1 gene B1, PTHB1 Yes No Ensembl:ENSG00000122507, GeneCard:BBS9, HGNC:HGNC:30000, HumanCyc Gene:HS04570, ModBase:Q9Y6A0, NCBI Gene:27241, OMIM:209900, OMIM:607968, RefSeq DNA:NG_009306, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001028776, RefSeq Protein:NP_001028777, RefSeq Protein:NP_055266, RefSeq Protein:NP_940820, RefSeq RNA:NM_001033604, RefSeq RNA:NM_001033605, RefSeq RNA:NM_014451, RefSeq RNA:NM_198428, UniProtKB:Q3SYG4 No chr7 33169144 33645680 33129244 33637238 +PA25280 56987 HGNC:14422 ENSG00000114439 BBX high mobility group box domain containing BBX """BBX, HMG-box containing"", ""bobby sox homolog (Drosophila)"", ""x 001 protein""" HBP2, HSPC339, MDS001 Yes No Comparative Toxicogenomics Database:56987, Ensembl:ENSG00000114439, GenAtlas:BBX, GeneCard:BBX, HGNC:HGNC:14422, HumanCyc Gene:HS03769, ModBase:Q8WY36, NCBI Gene:56987, RefSeq DNA:NT_005612, RefSeq Protein:NP_001136040, RefSeq Protein:NP_064620, RefSeq RNA:NM_001142568, RefSeq RNA:NM_020235, UCSC Genome Browser:NM_020235, UniProtKB:A8K6U2, UniProtKB:Q8WY36 No chr3 107241783 107530176 107522936 107811329 +PA30484 4059 HGNC:6722 ENSG00000187244 basal cell adhesion molecule (Lutheran blood group) BCAM B-CAM, CD239, F8/G253, LU Yes No Ensembl:ENSG00000187244, GenAtlas:BCAM, GeneCard:BCAM, HGNC:HGNC:6722, HumanCyc Gene:HS06912, ModBase:P50895, NCBI Gene:4059, OMIM:111200, OMIM:247420, OMIM:612773, RefSeq DNA:NG_007480, RefSeq DNA:NT_011109, RefSeq Protein:NP_001013275, RefSeq Protein:NP_005572, RefSeq RNA:NM_001013257, RefSeq RNA:NM_005581, UCSC Genome Browser:NM_005581, UniProtKB:P50895 No chr19 45312316 45324678 44809059 44821421 +PA134868393 63827 HGNC:23059 ENSG00000132692 brevican BCAN brevican proteoglycan, chondroitin sulfate proteoglycan 7 BEHAB, CSPG7, MGC13038 Yes No Ensembl:ENSG00000132692, GeneCard:BCAN, HGNC:HGNC:23059, HumanCyc Gene:HS05677, ModBase:Q96GW7, NCBI Gene:63827, OMIM:600347, RefSeq DNA:NT_004487, RefSeq Protein:NP_068767, RefSeq Protein:NP_940819, RefSeq RNA:NM_021948, RefSeq RNA:NM_198427, UniProtKB:Q96GW7 No chr1 156611740 156629324 156641948 156659532 +PA134939094 55973 HGNC:24131 ENSG00000075790 B cell receptor associated protein 29 BCAP29 B-cell receptor-associated protein 29 BAP29, DKFZp686M2086 Yes No Comparative Toxicogenomics Database:55973, Ensembl:ENSG00000075790, GeneCard:BCAP29, HGNC:HGNC:24131, HumanCyc Gene:HS01189, ModBase:Q9UHQ4, NCBI Gene:55973, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001008405, RefSeq Protein:NP_001008406, RefSeq Protein:NP_001008407, RefSeq Protein:NP_061332, RefSeq RNA:NM_001008405, RefSeq RNA:NM_001008406, RefSeq RNA:NM_001008407, RefSeq RNA:NM_018844, RefSeq RNA:NR_027830, UniProtKB:A6NFI0, UniProtKB:Q9UHQ4 No chr7 107220422 107263762 107579977 107623317 +PA128394569 10134 HGNC:16695 ENSG00000185825 B cell receptor associated protein 31 BCAP31 B-cell receptor-associated protein 31 6C6-Ag, BAP31, CDM, DXS1357E Yes Yes Ensembl:ENSG00000185825, GeneCard:BCAP31, HGNC:HGNC:16695, ModBase:P51572, NCBI Gene:10134, OMIM:300398, RefSeq DNA:NG_023231, RefSeq DNA:NT_167198, RefSeq Protein:NP_001132913, RefSeq Protein:NP_001132929, RefSeq Protein:NP_005736, RefSeq RNA:NM_001139441, RefSeq RNA:NM_001139457, RefSeq RNA:NM_005745, RefSeq RNA:NR_024450, UCSC Genome Browser:NM_005745, UniProtKB:B3KQ79, UniProtKB:P51572 No chrX 152965947 152990201 153700492 153724746 +PA25281 9564 HGNC:971 ENSG00000050820 BCAR1 scaffold protein, Cas family member BCAR1 """BCAR1, Cas family scaffold protein"", ""Cas scaffolding protein family member 1"", ""Crk-associated substrate"", ""breast cancer anti-estrogen resistance 1""" CAS, CASS1, Crkas, P130Cas Yes No Comparative Toxicogenomics Database:9564, Ensembl:ENSG00000050820, GenAtlas:BCAR1, GeneCard:BCAR1, HGNC:HGNC:971, HumanCyc Gene:HS00639, ModBase:P56945, NCBI Gene:9564, OMIM:602941, RefSeq DNA:NT_010498, RefSeq Protein:NP_001164185, RefSeq Protein:NP_001164186, RefSeq Protein:NP_001164187, RefSeq Protein:NP_001164188, RefSeq Protein:NP_001164189, RefSeq Protein:NP_001164190, RefSeq Protein:NP_001164191, RefSeq Protein:NP_001164192, RefSeq Protein:NP_055382, RefSeq RNA:NM_001170714, RefSeq RNA:NM_001170715, RefSeq RNA:NM_001170716, RefSeq RNA:NM_001170717, RefSeq RNA:NM_001170718, RefSeq RNA:NM_001170719, RefSeq RNA:NM_001170720, RefSeq RNA:NM_001170721, RefSeq RNA:NM_014567, UCSC Genome Browser:NM_014567, UniProtKB:B2RBL9, UniProtKB:B3KWD7, UniProtKB:B3KWE2, UniProtKB:B4DEV4, UniProtKB:B4DIW5, UniProtKB:B7Z7X7, UniProtKB:P56945, UniProtKB:Q6QEF7 No chr16 75262928 75301951 75229030 75268053 +PA25283 8412 HGNC:973 ENSG00000137936 BCAR3 adaptor protein, NSP family member BCAR3 """BCAR3, NSP family adaptor protein"", ""breast cancer anti-estrogen resistance 3"", ""migration inducting gene-7""" AND-34, MIG7, NSP2, SH2D3B Yes No Comparative Toxicogenomics Database:8412, Ensembl:ENSG00000137936, GenAtlas:BCAR3, GeneCard:BCAR3, HGNC:HGNC:973, HumanCyc Gene:HS06420, ModBase:O75815, NCBI Gene:8412, OMIM:604704, RefSeq DNA:NT_032977, RefSeq Protein:NP_003558, RefSeq RNA:NM_003567, UCSC Genome Browser:NM_003567, UniProtKB:O75815 No chr1 94027343 94312706 93561741 93847150 +PA145008949 400500 HGNC:22170 ENSG00000262117 breast cancer anti-estrogen resistance 4 (non-protein coding) BCAR4 Yes No Ensembl:ENSG00000262117, GeneCard:BCAR4, HGNC:HGNC:22170, NCBI Gene:400500, RefSeq DNA:NT_010393, RefSeq RNA:NR_024049, RefSeq RNA:NR_024050 No chr16 11913687 11922689 11819830 11828832 +PA25284 8537 HGNC:974 ENSG00000064787 brain enriched myelin associated protein 1 BCAS1 breast carcinoma amplified sequence 1, novel amplified in breast cancer 1, protein having mRNA enriched in synaptosomes 2 AIBC1, NABC1, PMES-2 Yes No Comparative Toxicogenomics Database:8537, Ensembl:ENSG00000064787, GenAtlas:BCAS1, GeneCard:BCAS1, HGNC:HGNC:974, HumanCyc Gene:HS00818, NCBI Gene:8537, OMIM:602968, RefSeq DNA:NT_011362, RefSeq Protein:NP_003648, RefSeq RNA:NM_003657, UCSC Genome Browser:NM_003657, UniProtKB:O75363 No chr20 52560079 52687304 53943538 54070765 +PA25285 10286 HGNC:975 ENSG00000116752 BCAS2 pre-mRNA processing factor BCAS2 """BCAS2, pre-mRNA processing factor"", ""DNA amplified in mammary carcinoma 1"", ""breast carcinoma amplified sequence 2""" DAM1, SPF27, Snt309 Yes No Ensembl:ENSG00000116752, GenAtlas:BCAS2, GeneCard:BCAS2, HGNC:HGNC:975, HumanCyc Gene:HS04048, ModBase:O75934, NCBI Gene:10286, OMIM:605783, RefSeq DNA:NT_032977, RefSeq Protein:NP_005863, RefSeq RNA:NM_005872, UCSC Genome Browser:NM_005872, UniProtKB:B2R7W3, UniProtKB:O75934 No chr1 115110178 115124265 114567557 114581644 +PA25286 54828 HGNC:14347 ENSG00000141376 BCAS3 microtubule associated cell migration factor BCAS3 """BCAS3, microtubule associated cell migration factor"", ""Rudhira"", ""breast carcinoma amplified sequence 3"", ""phagophore assembly factor 2""" FLJ20128, PHAF2 Yes No Ensembl:ENSG00000141376, GenAtlas:BCAS3, GeneCard:BCAS3, HGNC:HGNC:14347, HumanCyc Gene:HS13875, ModBase:Q9H9Y9, NCBI Gene:54828, OMIM:607470, RefSeq DNA:NT_010783, RefSeq Protein:NP_001092902, RefSeq Protein:NP_060149, RefSeq RNA:NM_001099432, RefSeq RNA:NM_017679, UCSC Genome Browser:NM_017679, UniProtKB:Q05D99, UniProtKB:Q17RM0, UniProtKB:Q9H6U6 No chr17 58755172 59470199 60677811 61392838 +PA25287 55653 HGNC:14367 ENSG00000124243 breast carcinoma amplified sequence 4 BCAS4 CNOL, FLJ20495 Yes No Ensembl:ENSG00000124243, GenAtlas:BCAS4, GeneCard:BCAS4, HGNC:HGNC:14367, HumanCyc Gene:HS13121, ModBase:Q8TDL9, NCBI Gene:55653, OMIM:607471, RefSeq DNA:NT_011362, RefSeq Protein:NP_001010974, RefSeq Protein:NP_060313, RefSeq Protein:NP_942094, RefSeq RNA:NM_001010974, RefSeq RNA:NM_017843, RefSeq RNA:NM_198799, UCSC Genome Browser:NM_017843, UniProtKB:Q8TDM0 No chr20 49411467 49493714 50794894 50877736 +PA25288 586 HGNC:976 ENSG00000060982 branched chain amino acid transaminase 1 BCAT1 branched chain amino-acid transaminase 1, cytosolic BCATc, BCT1 Yes No Comparative Toxicogenomics Database:586, Ensembl:ENSG00000060982, GenAtlas:BCAT1, GeneCard:BCAT1, HGNC:HGNC:976, HumanCyc Gene:HS00753, ModBase:P54687, NCBI Gene:586, OMIM:113520, RefSeq DNA:NG_008170, RefSeq DNA:NT_009714, RefSeq Protein:NP_001171562, RefSeq Protein:NP_001171563, RefSeq Protein:NP_001171564, RefSeq Protein:NP_001171565, RefSeq Protein:NP_005495, RefSeq RNA:NM_001178091, RefSeq RNA:NM_001178092, RefSeq RNA:NM_001178093, RefSeq RNA:NM_001178094, RefSeq RNA:NM_005504, UCSC Genome Browser:NM_005504, UniProtKB:B3KY27, UniProtKB:B7Z5L0, UniProtKB:P54687, UniProtKB:Q68DQ7 No chr12 24962958 25102393 24810024 24949459 +PA25289 587 HGNC:977 ENSG00000105552 branched chain amino acid transaminase 2 BCAT2 branched chain amino-acid transaminase 2, mitochondrial BCAM, BCATm, BCT2 Yes No Comparative Toxicogenomics Database:587, Ensembl:ENSG00000105552, GenAtlas:BCAT2, GeneCard:BCAT2, HGNC:HGNC:977, HumanCyc Gene:HS02761, ModBase:O15382, NCBI Gene:587, OMIM:113530, RefSeq DNA:NG_013003, RefSeq DNA:NT_011109, RefSeq Protein:NP_001158245, RefSeq Protein:NP_001181, RefSeq RNA:NM_001164773, RefSeq RNA:NM_001190, RefSeq RNA:NR_028450, RefSeq RNA:NR_028451, UCSC Genome Browser:NM_001190, UniProtKB:O15382 No chr19 49298319 49314320 48795062 48811063 +PA25290 56647 HGNC:978 ENSG00000107949 BRCA2 and CDKN1A interacting protein BCCIP BCCIPalpha, TOK-1 Yes No Comparative Toxicogenomics Database:56647, Ensembl:ENSG00000107949, GenAtlas:BCCIP, GeneCard:BCCIP, HGNC:HGNC:978, HumanCyc Gene:HS03047, ModBase:Q9P287, NCBI Gene:56647, OMIM:611883, RefSeq DNA:NT_030059, RefSeq Protein:NP_057651, RefSeq Protein:NP_510868, RefSeq Protein:NP_510869, RefSeq RNA:NM_016567, RefSeq RNA:NM_078468, RefSeq RNA:NM_078469, UCSC Genome Browser:NM_016567, UniProtKB:Q9P287 No chr10 127512102 127542264 125823535 125853695 +PA162377410 144233 HGNC:27050 ENSG00000186666 BCDIN3 domain containing RNA methyltransferase BCDIN3D BCDIN3 domain containing Yes No Ensembl:ENSG00000186666, GeneCard:BCDIN3D, HGNC:HGNC:27050, ModBase:Q7Z5W3, NCBI Gene:144233, RefSeq DNA:NT_029419, RefSeq Protein:NP_859059, RefSeq RNA:NM_181708, UniProtKB:Q7Z5W3 No chr12 50229826 50236912 49836043 49843129 +PA25294 590 HGNC:983 ENSG00000114200 butyrylcholinesterase BCHE pseudocholinesterase CHE1, CHE2, E1 Yes Yes Comparative Toxicogenomics Database:590, Ensembl:ENSG00000114200, GenAtlas:BCHE, GeneCard:BCHE, HGNC:HGNC:983, HumanCyc Gene:HS03747, ModBase:P06276, NCBI Gene:590, OMIM:177400, RefSeq DNA:NG_009031.1, RefSeq Protein:NP_000046, RefSeq RNA:NM_000055, UCSC Genome Browser:NM_000055, UniProtKB:P06276 No chr3 165490692 165555211 165772904 165837423 +PA25297 593 HGNC:986 ENSG00000248098 branched chain keto acid dehydrogenase E1 subunit alpha BCKDHA """2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial"", ""branched chain keto acid dehydrogenase E1, alpha polypeptide"", ""maple syrup urine disease""" MSU, OVD1A Yes No Comparative Toxicogenomics Database:593, Ensembl:ENSG00000248098, GenAtlas:BCKDHA, GeneCard:BCKDHA, HGNC:HGNC:986, HumanCyc Gene:HS06890, ModBase:P12694, NCBI Gene:593, OMIM:248600, OMIM:608348, RefSeq DNA:NG_013004, RefSeq DNA:NT_011109, RefSeq Protein:NP_000700, RefSeq Protein:NP_001158255, RefSeq RNA:NM_000709, RefSeq RNA:NM_001164783, UCSC Genome Browser:NM_000709, UniProtKB:B4DP47, UniProtKB:P12694, UniProtKB:Q59EI3 No chr19 41903694 41930910 41397789 41425005 +PA25298 594 HGNC:987 ENSG00000083123 branched chain keto acid dehydrogenase E1 subunit beta BCKDHB """2-oxoisovalerate dehydrogenase subunit beta, mitochondrial"", ""branched chain keto acid dehydrogenase E1, beta polypeptide"", ""maple syrup urine disease""" OVD1B Yes No Comparative Toxicogenomics Database:594, Ensembl:ENSG00000083123, GenAtlas:BCKDHB, GeneCard:BCKDHB, HGNC:HGNC:987, HumanCyc Gene:HS01434, ModBase:P21953, NCBI Gene:594, OMIM:248600, OMIM:248611, RefSeq DNA:NG_009775, RefSeq DNA:NT_007299, RefSeq Protein:NP_000047, RefSeq Protein:NP_898871, RefSeq RNA:NM_000056, RefSeq RNA:NM_183050, UCSC Genome Browser:NM_000056, UniProtKB:P21953, UniProtKB:Q9BQL0 No chr6 80816344 81055987 80106610 80469088 +PA134899581 10295 HGNC:16902 ENSG00000103507 branched chain keto acid dehydrogenase kinase BCKDK branched chain ketoacid dehydrogenase kinase Yes No Comparative Toxicogenomics Database:10295, Ensembl:ENSG00000103507, GeneCard:BCKDK, HGNC:HGNC:16902, HumanCyc Gene:HS02514, ModBase:O14874, NCBI Gene:10295, RefSeq DNA:NT_010393, RefSeq Protein:NP_001116429, RefSeq Protein:NP_005872, RefSeq RNA:NM_001122957, RefSeq RNA:NM_005881, UniProtKB:A8MY43, UniProtKB:O14874, UniProtKB:Q96G95 No chr16 31119615 31124112 31108294 31117651 +PA25299 8915 HGNC:989 ENSG00000142867 BCL10 immune signaling adaptor BCL10 """B cell CLL/lymphoma 10"", ""B-cell CLL/lymphoma 10"", ""BCL10, immune signaling adaptor"", ""CARD containing molecule enhancing NF-kB"", ""CARD-containing apoptotic signaling protein"", ""CARD-containing proapoptotic protein"", ""CARD-like apoptotic protein"", ""caspase-recruiting domain-containing protein""" CARMEN, CIPER, CLAP, c-E10, mE10 Yes No Comparative Toxicogenomics Database:8915, Ensembl:ENSG00000142867, GenAtlas:BCL10, GeneCard:BCL10, HGNC:HGNC:989, HumanCyc Gene:HS06966, ModBase:O95999, NCBI Gene:8915, OMIM:603517, RefSeq DNA:NG_012216, RefSeq DNA:NT_032977, RefSeq Protein:NP_003912, RefSeq RNA:NM_003921, UCSC Genome Browser:NM_003921, UniProtKB:O95999, UniProtKB:Q5VUF1 No chr1 85731459 85742604 85265776 85276904 +PA25300 53335 HGNC:13221 ENSG00000119866 BCL11 transcription factor A BCL11A """B cell CLL/lymphoma 11A"", ""B-cell CLL/lymphoma 11A (zinc finger protein)"", ""BAF chromatin remodeling complex subunit BCL11A"", ""BCL11A, BAF complex component""" BCL11A-L, BCL11A-S, BCL11A-XL, CTIP1, EVI9, HBFQTL5, SMARCM1, ZNF856 Yes Yes Comparative Toxicogenomics Database:53335, Ensembl:ENSG00000119866, GenAtlas:BCL11A, GeneCard:BCL11A, HGNC:HGNC:13221, HumanCyc Gene:HS12962, ModBase:Q9H165, NCBI Gene:53335, OMIM:142335, OMIM:606557, RefSeq DNA:NG_011968, RefSeq DNA:NT_022184, RefSeq Protein:NP_060484, RefSeq Protein:NP_075044, RefSeq Protein:NP_612569, RefSeq RNA:NM_018014, RefSeq RNA:NM_022893, RefSeq RNA:NM_138559, UCSC Genome Browser:NM_018014, UniProtKB:Q9H165 No chr2 60678302 60780633 60451167 60553498 +PA25301 64919 HGNC:13222 ENSG00000127152 BCL11 transcription factor B BCL11B """B cell CLL/lymphoma 11B"", ""B-cell CLL/lymphoma 11B (zinc finger protein)"", ""BAF chromatin remodeling complex subunit BCL11B"", ""BCL11B, BAF complex component""" CTIP-2, CTIP2, SMARCM2, ZNF856B, hRIT1-alpha Yes No Comparative Toxicogenomics Database:64919, Ensembl:ENSG00000127152, GenAtlas:BCL11B, GeneCard:BCL11B, HGNC:HGNC:13222, HumanCyc Gene:HS13230, ModBase:Q9C0K0, NCBI Gene:64919, OMIM:606558, RefSeq DNA:NT_026437, RefSeq Protein:NP_075049, RefSeq Protein:NP_612808, RefSeq RNA:NM_022898, RefSeq RNA:NM_138576, UCSC Genome Browser:NM_022898, UniProtKB:Q9C0K0 No chr14 99635624 99738514 99169287 99271713 +PA25302 596 HGNC:990 ENSG00000171791 BCL2 apoptosis regulator BCL2 """B-cell CLL/lymphoma 2"", ""BCL2, apoptosis regulator"", ""protein phosphatase 1, regulatory subunit 50""" Bcl-2, PPP1R50 Yes Yes Comparative Toxicogenomics Database:596, Ensembl:ENSG00000171791, GenAtlas:BCL2, GeneCard:BCL2, HGNC:HGNC:990, HumanCyc Gene:HS10381, ModBase:P10415, NCBI Gene:596, OMIM:151430, RefSeq DNA:NG_009361, RefSeq DNA:NT_025028, RefSeq Protein:NP_000624, RefSeq Protein:NP_000648, RefSeq RNA:NM_000633, RefSeq RNA:NM_000657, UCSC Genome Browser:NM_000633, UniProtKB:C9JHD5, UniProtKB:P10415 No chr18 60790579 60987011 63123346 63319778 +PA25303 597 HGNC:991 ENSG00000140379 BCL2 related protein A1 BCL2A1 BCL2-related protein A1 ACC-1, ACC-2, ACC1, ACC2, BCL2L5, BFL1, GRS, HBPA1 Yes No Comparative Toxicogenomics Database:597, Ensembl:ENSG00000140379, GenAtlas:BCL2A1, GeneCard:BCL2A1, HGNC:HGNC:991, HumanCyc Gene:HS06708, ModBase:Q16548, NCBI Gene:597, OMIM:601056, RefSeq DNA:NT_010194, RefSeq Protein:NP_001108207, RefSeq Protein:NP_004040, RefSeq RNA:NM_001114735, RefSeq RNA:NM_004049, UCSC Genome Browser:NM_004049, UniProtKB:Q16548, UniProtKB:Q86W13 No chr15 80253232 80263643 79960890 79971301 +PA76 598 HGNC:992 ENSG00000171552 BCL2 like 1 BCL2L1 """BCL2-like 1"", ""protein phosphatase 1, regulatory subunit 52""" BCL2L, BCLX, Bcl-X, PPP1R52, bcl-xL, bcl-xS Yes No Comparative Toxicogenomics Database:598, Ensembl:ENSG00000171552, GenAtlas:BCL2L1, GeneCard:BCL2L1, HGNC:HGNC:992, HumanCyc Gene:HS10340, ModBase:Q07817, NCBI Gene:598, OMIM:600039, RefSeq DNA:NT_011362, RefSeq Protein:NP_001182, RefSeq Protein:NP_612815, RefSeq RNA:NM_001191, RefSeq RNA:NM_138578, UCSC Genome Browser:NM_001191, UniProtKB:Q07817, UniProtKB:Q5TE63 No chr20 30252261 30311752 31664452 31723999 +PA25304 10017 HGNC:993 ENSG00000137875 BCL2 like 10 BCL2L10 BCL2-like 10 (apoptosis facilitator) BCL-B, Boo, Diva Yes No Comparative Toxicogenomics Database:10017, Ensembl:ENSG00000137875, GenAtlas:BCL2L10, GeneCard:BCL2L10, HGNC:HGNC:993, HumanCyc Gene:HS06415, ModBase:Q9HD36, NCBI Gene:10017, OMIM:606910, RefSeq DNA:NT_010194, RefSeq Protein:NP_065129, RefSeq RNA:NM_020396, UCSC Genome Browser:NM_020396, UniProtKB:Q9HD36 No chr15 52401490 52404972 52109263 52112775 +PA25305 10018 HGNC:994 ENSG00000153094 BCL2 like 11 BCL2L11 BCL2-like 11 (apoptosis facilitator) BIM, BOD, BimEL, BimL, BimS Yes Yes Comparative Toxicogenomics Database:10018, Ensembl:ENSG00000153094, GenAtlas:BCL2L11, GeneCard:BCL2L11, HGNC:HGNC:994, HumanCyc Gene:HS07882, ModBase:Q8WYL9, NCBI Gene:10018, OMIM:603827, RefSeq DNA:NT_022135, RefSeq Protein:NP_001191035, RefSeq Protein:NP_001191036, RefSeq Protein:NP_001191037, RefSeq Protein:NP_001191038, RefSeq Protein:NP_001191039, RefSeq Protein:NP_001191040, RefSeq Protein:NP_001191041, RefSeq Protein:NP_001191042, RefSeq Protein:NP_006529, RefSeq Protein:NP_619527, RefSeq Protein:NP_619528, RefSeq Protein:NP_619529, RefSeq Protein:NP_619530, RefSeq Protein:NP_619531, RefSeq Protein:NP_619532, RefSeq Protein:NP_619533, RefSeq Protein:NP_996885, RefSeq Protein:NP_996886, RefSeq RNA:NM_001204106, RefSeq RNA:NM_001204107, RefSeq RNA:NM_001204108, RefSeq RNA:NM_001204109, RefSeq RNA:NM_001204110, RefSeq RNA:NM_001204111, RefSeq RNA:NM_001204112, RefSeq RNA:NM_001204113, RefSeq RNA:NM_006538, RefSeq RNA:NM_138621, RefSeq RNA:NM_138622, RefSeq RNA:NM_138623, RefSeq RNA:NM_138624, RefSeq RNA:NM_138625, RefSeq RNA:NM_138626, RefSeq RNA:NM_138627, RefSeq RNA:NM_207002, RefSeq RNA:NM_207003, UCSC Genome Browser:NM_006538, UniProtKB:O43521 No chr2 111878491 111926022 111120914 111168445 +PA25306 83596 HGNC:13787 ENSG00000126453 BCL2 like 12 BCL2L12 BCL2-like 12 (proline rich) Yes No Comparative Toxicogenomics Database:83596, Ensembl:ENSG00000126453, GenAtlas:BCL2L12, GeneCard:BCL2L12, HGNC:HGNC:13787, HumanCyc Gene:HS05017, ModBase:Q9HB09, NCBI Gene:83596, OMIM:610837, RefSeq DNA:NT_011109, RefSeq Protein:NP_001035758, RefSeq Protein:NP_619580, RefSeq RNA:NM_001040668, RefSeq RNA:NM_138639, UCSC Genome Browser:NM_052842, UniProtKB:Q3SY13, UniProtKB:Q3SY17, UniProtKB:Q9HB09 No chr19 50168399 50177173 49665072 49673916 +PA134912159 23786 HGNC:17164 ENSG00000099968 BCL2 like 13 BCL2L13 BCL2-like 13 (apoptosis facilitator) BCL-RAMBO, MIL1 Yes No Comparative Toxicogenomics Database:23786, Ensembl:ENSG00000099968, GeneCard:BCL2L13, HGNC:HGNC:17164, HumanCyc Gene:HS01941, ModBase:Q9BXK5, NCBI Gene:23786, RefSeq DNA:NT_011519, RefSeq Protein:NP_056182, RefSeq RNA:NM_015367, UniProtKB:Q86T62, UniProtKB:Q9BXK5 No chr22 18111621 18213621 17628855 17730855 +PA134870762 79370 HGNC:16657 ENSG00000121380 BCL2 like 14 BCL2L14 BCL2-like 14 (apoptosis facilitator) BCL-G, BCLG Yes No Comparative Toxicogenomics Database:79370, Ensembl:ENSG00000121380, GeneCard:BCL2L14, HGNC:HGNC:16657, HumanCyc Gene:HS04491, ModBase:Q9BZR8, NCBI Gene:79370, OMIM:606126, RefSeq DNA:NT_009714, RefSeq Protein:NP_110393, RefSeq Protein:NP_620048, RefSeq Protein:NP_620049, RefSeq Protein:NP_620050, RefSeq RNA:NM_030766, RefSeq RNA:NM_138722, RefSeq RNA:NM_138723, RefSeq RNA:NM_138724, UniProtKB:Q9BZR8 No chr12 12223873 12252629 12049844 12099695 +PA162377411 440603 HGNC:33624 ENSG00000188761 BCL2 like 15 BCL2L15 BCL2-like 15 Bfk, C1orf178, FLJ22588 Yes No Ensembl:ENSG00000188761, GeneCard:BCL2L15, HGNC:HGNC:33624, ModBase:Q5TBC7, NCBI Gene:440603, RefSeq DNA:NT_032977, RefSeq Protein:NP_001010922, RefSeq RNA:NM_001010922, UniProtKB:Q5TBC7 No chr1 114419436 114430230 113876814 113887547 +PA25307 599 HGNC:995 ENSG00000129473 BCL2 like 2 BCL2L2 """BCL2-like 2"", ""protein phosphatase 1, regulatory subunit 51""" BCL-W, KIAA0271, PPP1R51 Yes No Comparative Toxicogenomics Database:599, Ensembl:ENSG00000129473, GenAtlas:BCL2L2, GeneCard:BCL2L2, HGNC:HGNC:995, HumanCyc Gene:HS05283, ModBase:Q92843, NCBI Gene:599, OMIM:601931, RefSeq DNA:NT_026437, RefSeq Protein:NP_001186768, RefSeq Protein:NP_004041, RefSeq RNA:NM_001199839, RefSeq RNA:NM_004050, UCSC Genome Browser:NM_004050, UniProtKB:Q92843 No chr14 23775971 23790241 23306762 23311759 +PA166049089 100529063 HGNC:42959 ENSG00000258643 BCL2L2-PABPN1 readthrough BCL2L2-PABPN1 Yes No Ensembl:ENSG00000258643, HGNC:HGNC:42959, NCBI Gene:100529063 No chr14 23775971 23795394 23306762 23326185 +PA25310 602 HGNC:998 ENSG00000069399 BCL3 transcription coactivator BCL3 """B cell CLL/lymphoma 3"", ""B-cell CLL/lymphoma 3"", ""B-cell leukemia/lymphoma 3"", ""B-cell lymphoma 3-encoded protein"", ""BCL3, transcription coactivator"", ""chronic lymphatic leukemia protein""" BCL4, D19S37 Yes No Comparative Toxicogenomics Database:602, Ensembl:ENSG00000069399, GenAtlas:BCL3, GeneCard:BCL3, HGNC:HGNC:998, HumanCyc Gene:HS00961, ModBase:P20749, NCBI Gene:602, OMIM:109560, RefSeq DNA:NT_011109, RefSeq Protein:NP_005169, RefSeq RNA:NM_005178, UCSC Genome Browser:NM_005178, UniProtKB:P20749 No chr19 45246070 45263301 44742621 44760044 +PA25312 604 HGNC:1001 ENSG00000113916 BCL6 transcription repressor BCL6 """B cell CLL/lymphoma 6"", ""B-cell CLL/lymphoma 6"", ""BCL6, transcription repressor""" BCL5, BCL6A, LAZ3, ZBTB27, ZNF51 Yes No Comparative Toxicogenomics Database:604, Ensembl:ENSG00000113916, GenAtlas:BCL6, GeneCard:BCL6, HGNC:HGNC:1001, HumanCyc Gene:HS03727, ModBase:P41182, NCBI Gene:604, OMIM:109565, RefSeq DNA:NG_007149, RefSeq DNA:NT_005612, RefSeq Protein:NP_001124317, RefSeq Protein:NP_001128210, RefSeq Protein:NP_001697, RefSeq RNA:NM_001130845, RefSeq RNA:NM_001134738, RefSeq RNA:NM_001706, UCSC Genome Browser:NM_001706, UniProtKB:B5B0A5, UniProtKB:B8PSA7, UniProtKB:P41182 No chr3 187439165 187463513 187721377 187745725 +PA25313 255877 HGNC:1002 ENSG00000161940 BCL6B transcription repressor BCL6B """B cell CLL/lymphoma 6B"", ""B-cell CLL/lymphoma 6, member B"", ""BCL6B, transcription repressor""" BAZF, ZBTB28, ZNF62 Yes No Comparative Toxicogenomics Database:255877, Ensembl:ENSG00000161940, GenAtlas:BCL6B, GeneCard:BCL6B, HGNC:HGNC:1002, ModBase:Q8N143, NCBI Gene:255877, OMIM:608992, RefSeq DNA:NT_010718, RefSeq Protein:NP_862827, RefSeq RNA:NM_181844, UCSC Genome Browser:NM_181844, UniProtKB:A8KA13, UniProtKB:Q8N143 No chr17 6926368 6933609 7023050 7029642 +PA25314 605 HGNC:1004 ENSG00000110987 BAF chromatin remodeling complex subunit BCL7A BCL7A """B-cell CLL/lymphoma 7A"", ""BCL tumor suppressor 7A"", ""BCL7A, BAF complex component""" BCL7, SMARCJ1 Yes No Comparative Toxicogenomics Database:605, Ensembl:ENSG00000110987, GenAtlas:BCL7A, GeneCard:BCL7A, HGNC:HGNC:1004, HumanCyc Gene:HS03360, ModBase:Q4VC05, NCBI Gene:605, OMIM:601406, RefSeq DNA:NT_009775, RefSeq Protein:NP_001019979, RefSeq Protein:NP_066273, RefSeq RNA:NM_001024808, RefSeq RNA:NM_020993, UCSC Genome Browser:NM_020993, UniProtKB:Q4VC05 No chr12 122459861 122499950 122021886 122062044 +PA25315 9275 HGNC:1005 ENSG00000106635 BAF chromatin remodeling complex subunit BCL7B BCL7B """B-cell CLL/lymphoma 7B"", ""BCL tumor suppressor 7B"", ""BCL7B, BAF complex component""" SMARCJ2 Yes No Comparative Toxicogenomics Database:9275, Ensembl:ENSG00000106635, GenAtlas:BCL7B, GeneCard:BCL7B, HGNC:HGNC:1005, HumanCyc Gene:HS02936, ModBase:Q9BQE9, NCBI Gene:9275, OMIM:605846, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001184173, RefSeq Protein:NP_001698, RefSeq RNA:NM_001197244, RefSeq RNA:NM_001707, RefSeq RNA:NR_036682, UCSC Genome Browser:NM_001707, UniProtKB:Q9BQE9 No chr7 72950683 72972065 73536353 73557735 +PA25316 9274 HGNC:1006 ENSG00000099385 BAF chromatin remodeling complex subunit BCL7C BCL7C """B-cell CLL/lymphoma 7C"", ""BCL tumor suppressor 7C"", ""BCL7C, BAF complex component""" SMARCJ3 Yes No Comparative Toxicogenomics Database:9274, Ensembl:ENSG00000099385, GenAtlas:BCL7C, GeneCard:BCL7C, HGNC:HGNC:1006, HumanCyc Gene:HS01895, NCBI Gene:9274, OMIM:605847, RefSeq DNA:NT_010393, RefSeq Protein:NP_004756, RefSeq RNA:NM_004765, UCSC Genome Browser:NM_004765, UniProtKB:Q8WUZ0 No chr16 30845373 30905852 30834041 30894550 +PA25318 607 HGNC:1008 ENSG00000116128 BCL9 transcription coactivator BCL9 """B cell CLL/lymphoma 9"", ""B-cell CLL/lymphoma 9"", ""BCL9, transcription coactivator""" Yes No Comparative Toxicogenomics Database:607, Ensembl:ENSG00000116128, GenAtlas:BCL9, GeneCard:BCL9, HGNC:HGNC:1008, HumanCyc Gene:HS03983, ModBase:O00512, NCBI Gene:607, OMIM:602597, RefSeq DNA:NT_167185, RefSeq Protein:NP_004317, RefSeq RNA:NM_004326, UCSC Genome Browser:NM_004326, UniProtKB:O00512 No chr1 147013222 147098022 147541394 147626219 +PA134974002 283149 HGNC:23688 ENSG00000186174 BCL9 like BCL9L B cell CLL/lymphoma 9 like, B-cell CLL/lymphoma 9-like B9L, Bcl9-2, DLNB11 Yes No Comparative Toxicogenomics Database:283149, Ensembl:ENSG00000186174, GeneCard:BCL9L, HGNC:HGNC:23688, ModBase:Q86UU0, NCBI Gene:283149, OMIM:609004, RefSeq DNA:NT_033899, RefSeq Protein:NP_872363, RefSeq RNA:NM_182557, UniProtKB:Q86UU0 No chr11 118766849 118796327 118896140 118926072 +PA134868035 9774 HGNC:16863 ENSG00000029363 BCL2 associated transcription factor 1 BCLAF1 BCL2-associated transcription factor 1, BCLAF1 and THRAP3 family member 1 BTF, KIAA0164 Yes No Comparative Toxicogenomics Database:9774, Ensembl:ENSG00000029363, GeneCard:BCLAF1, HGNC:HGNC:16863, HumanCyc Gene:HS00468, ModBase:Q9NYF8, NCBI Gene:9774, OMIM:612588, RefSeq DNA:NT_025741, RefSeq Protein:NP_001070908, RefSeq Protein:NP_001070909, RefSeq Protein:NP_055554, RefSeq RNA:NM_001077440, RefSeq RNA:NM_001077441, RefSeq RNA:NM_014739, UniProtKB:Q9NYF8 No chr6 136578001 136611783 136256863 136290645 +PA134885371 256643 HGNC:27413 ENSG00000173681 BCLAF1 and THRAP3 family member 3 BCLAF3 chromosome X open reading frame 23 CXorf23 Yes No Ensembl:ENSG00000173681, GeneCard:CXorf23, HGNC:HGNC:27413, NCBI Gene:256643, RefSeq DNA:NG_021326, RefSeq DNA:NT_167197, RefSeq Protein:NP_938020, RefSeq RNA:NM_198279, UniProtKB:A2AJT9 No chrX 19930978 19988427 19912860 19991040 +PA37812 53630 HGNC:13815 ENSG00000135697 beta-carotene oxygenase 1 BCO1 beta-carotene 15,15'-monooxygenase 1 BCDO, BCDO1, BCMO, BCMO1, FLJ10730 Yes No Comparative Toxicogenomics Database:53630, Ensembl:ENSG00000135697, GenAtlas:BCMO1, GeneCard:BCMO1, HGNC:HGNC:13815, HumanCyc Gene:HS06050, ModBase:Q9HAY6, NCBI Gene:53630, OMIM:115300, OMIM:605748, RefSeq DNA:NG_012171, RefSeq DNA:NT_010498, RefSeq Protein:NP_059125, RefSeq RNA:NM_017429, UCSC Genome Browser:NM_017429, UniProtKB:Q9HAY6 No chr16 81272176 81324747 81238642 81291142 +PA162377424 83875 HGNC:18503 ENSG00000197580 beta-carotene oxygenase 2 BCO2 """beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase""" B-DIOX-II, BCDO2, FLJ34464 Yes No Ensembl:ENSG00000197580, GeneCard:BCO2, HGNC:HGNC:18503, NCBI Gene:83875, OMIM:611740, RefSeq DNA:NT_033899, RefSeq Protein:NP_001032367, RefSeq Protein:NP_114144, RefSeq RNA:NM_001037290, RefSeq RNA:NM_031938, UniProtKB:Q8IUS0, UniProtKB:Q9BYV7 No chr11 112046208 112089652 112175485 112218929 +PA134921737 54880 HGNC:20893 ENSG00000183337 BCL6 corepressor BCOR BCL-6 coreceptor, BCL6 interacting corepressor FLJ20285, KIAA1575 Yes Yes Comparative Toxicogenomics Database:54880, Ensembl:ENSG00000183337, GeneCard:BCOR, HGNC:HGNC:20893, ModBase:Q9HCJ7, NCBI Gene:54880, OMIM:300166, OMIM:300485, RefSeq DNA:NG_008880, RefSeq DNA:NT_079573, RefSeq Protein:NP_001116855, RefSeq Protein:NP_001116856, RefSeq Protein:NP_001116857, RefSeq Protein:NP_060215, RefSeq RNA:NM_001123383, RefSeq RNA:NM_001123384, RefSeq RNA:NM_001123385, RefSeq RNA:NM_017745, UniProtKB:Q6W2J9 No chrX 39910499 40036643 40051246 40177390 +PA134863970 63035 HGNC:25657 ENSG00000085185 BCL6 corepressor like 1 BCORL1 BCL6 corepressor-like 1 BCoR-L1, CXorf10, FLJ11362 Yes No Comparative Toxicogenomics Database:63035, Ensembl:ENSG00000085185, GeneCard:BCORL1, HGNC:HGNC:25657, ModBase:Q5H9F3, NCBI Gene:63035, OMIM:300688, RefSeq DNA:NG_021274, RefSeq DNA:NT_011786, RefSeq Protein:NP_068765, RefSeq RNA:NM_021946 No chrX 129114277 129192058 129980285 130058083 +PA134905726 286554 HGNC:23953 ENSG00000215580 BCL6 corepressor pseudogene 1 BCORP1 FLJ39821 Yes No Ensembl:ENSG00000215580, GeneCard:BCORP1, HGNC:HGNC:23953, NCBI Gene:286554, RefSeq DNA:NT_011875, RefSeq RNA:NR_002923, RefSeq RNA:NR_033732 No chrY 21617317 21665039 19455431 19503153 +PA25321 613 HGNC:1014 ENSG00000186716 BCR activator of RhoGEF and GTPase BCR """BCR, RhoGEF and GTPase activating protein"", ""breakpoint cluster region""" ALL, BCR1, CML, D22S11, D22S662, PHL Yes Yes Comparative Toxicogenomics Database:613, Ensembl:ENSG00000186716, GenAtlas:BCR, GeneCard:BCR, HGNC:HGNC:1014, HumanCyc Gene:HS09933, ModBase:P11274, NCBI Gene:613, OMIM:151410, OMIM:608232, OMIM:613065, RefSeq DNA:NG_009244, RefSeq DNA:NT_011520, RefSeq Protein:NP_004318, RefSeq Protein:NP_067585, RefSeq RNA:NM_004327, RefSeq RNA:NM_021574, UCSC Genome Browser:NM_004327, UniProtKB:P11274 No chr22 23522402 23660224 23180365 23318037 +PA25322 400892 HGNC:1015 ENSG00000169668 breakpoint cluster region pseudogene 2 BCRP2 BCR-2 Yes No Ensembl:ENSG00000169668, GenAtlas:BCRL2, GeneCard:BCRL2, HGNC:HGNC:1015, NCBI Gene:400892, OMIM:113630 No chr22 21457305 21476575 21103016 21122286 +PA25323 644165 HGNC:1016 ENSG00000215481 breakpoint cluster region pseudogene 3 BCRP3 BCRL6 Yes No Ensembl:ENSG00000215481, GenAtlas:BCRL3, GeneCard:BCRL3, HGNC:HGNC:1016, NCBI Gene:644165, OMIM:113640 No chr22 25028882 25049327 24632915 24653360 +PA25324 616 HGNC:1017 ENSG00000215456 breakpoint cluster region pseudogene 4 BCRP4 BCR-4 Yes No Ensembl:ENSG00000215456, GenAtlas:BCRL4, GeneCard:BCRP4, HGNC:HGNC:1017, NCBI Gene:616, OMIM:113660, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22972536 22979055 22630065 22636584 +PA25325 648980 HGNC:1018 ENSG00000235062 breakpoint cluster region pseudogene 5 BCRP5 Yes No Ensembl:ENSG00000235062, GenAtlas:BCRL5, GeneCard:BCRL5, HGNC:HGNC:1018, NCBI Gene:648980 No chr22 21049726 21053247 20695438 20698959 +PA25327 617 HGNC:1020 ENSG00000074582 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like, Bjornstad syndrome, GRACILE syndrome BCS, BJS, Hs.6719, h-BCS Yes No Comparative Toxicogenomics Database:617, Ensembl:ENSG00000074582, GenAtlas:BCS1L, GeneCard:BCS1L, HGNC:HGNC:1020, HumanCyc Gene:HS01142, ModBase:Q9Y276, NCBI Gene:617, OMIM:124000, OMIM:256000, OMIM:262000, OMIM:603358, OMIM:603647, RefSeq DNA:NG_008018, RefSeq DNA:NT_005403, RefSeq Protein:NP_001073335, RefSeq Protein:NP_004319, RefSeq RNA:NM_001079866, RefSeq RNA:NM_004328, UCSC Genome Browser:NM_004328, UniProtKB:Q9Y276 No chr2 219524379 219528166 218659656 218663443 +PA25328 618 HGNC:1022 ENSG00000236824 brain cytoplasmic RNA 1 BCYRN1 brain cytoplasmic RNA 200-alpha, long intergenic non-protein coding RNA 4, non-protein coding RNA 4 BC200, BC200a, LINC00004, NCRNA00004 Yes No Ensembl:ENSG00000236824, GenAtlas:BCYRN1, GeneCard:BCYRN1, HGNC:HGNC:1022, HumanCyc Gene:HS11824, NCBI Gene:618, OMIM:606089, RefSeq DNA:NG_005471, RefSeq DNA:NT_022184, RefSeq RNA:NR_001568 No chr2 47562454 47562653 47335315 47335514 +PA25329 619 HGNC:1023 brain cytoplasmic RNA 1, pseudogene 1 BCYRN1P1 BC200b Yes No GenAtlas:BCYRN1P1, GeneCard:BCYRN1P1, HGNC:HGNC:1023, NCBI Gene:619, RefSeq DNA:NG_003040, RefSeq DNA:NT_011786 No chrX 138802738 138802934 139720579 139720775 +PA25330 620 HGNC:1024 brain cytoplasmic RNA 1, pseudogene 2 BCYRN1P2 BC200g Yes No GenAtlas:BCYRN1P2, GeneCard:BCYRN1P2, HGNC:HGNC:1024, NCBI Gene:620, RefSeq DNA:NG_001085 No chr1 +PA25331 622 HGNC:1027 ENSG00000161267 3-hydroxybutyrate dehydrogenase 1 BDH1 """3-hydroxybutyrate dehydrogenase, type 1"", ""short chain dehydrogenase/reductase family 9C, member 1""" BDH, SDR9C1 Yes No Comparative Toxicogenomics Database:622, Ensembl:ENSG00000161267, GenAtlas:BDH1, GeneCard:BDH1, HGNC:HGNC:1027, HumanCyc Gene:HS08579, ModBase:Q02338, NCBI Gene:622, OMIM:603063, RefSeq DNA:NT_029928, RefSeq Protein:NP_004042, RefSeq Protein:NP_976059, RefSeq Protein:NP_976060, RefSeq RNA:NM_004051, RefSeq RNA:NM_203314, RefSeq RNA:NM_203315, UCSC Genome Browser:NM_004051, UniProtKB:Q02338 No chr3 197236654 197300194 197509783 197573323 +PA142672559 56898 HGNC:32389 ENSG00000164039 3-hydroxybutyrate dehydrogenase 2 BDH2 """3-hydroxybutyrate dehydrogenase, type 2"", ""short chain dehydrogenase/reductase family 15C, member 1""" DHRS6, FLJ13261, PRO20933, SDR15C1, UCPA-OR, UNQ6308 Yes No Comparative Toxicogenomics Database:56898, Ensembl:ENSG00000164039, GeneCard:BDH2, HGNC:HGNC:32389, HumanCyc Gene:HS08987, ModBase:Q9BUT1, NCBI Gene:56898, RefSeq DNA:NT_016354, RefSeq Protein:NP_064524, RefSeq RNA:NM_020139, UniProtKB:Q9BUT1 No chr4 103998770 104021024 103077618 103099867 +PA134983777 389416 HGNC:21476 ENSG00000232699 3-hydroxybutyrate dehydrogenase, type 2 pseudogene 1 BDH2P1 bA758C21.1 Yes No Ensembl:ENSG00000232699, GeneCard:BDH2P1, HGNC:HGNC:21476, NCBI Gene:389416, RefSeq DNA:NG_005299, RefSeq DNA:NT_025741 No chr6 99622547 99625446 99174671 99177570 +PA79 623 HGNC:1029 ENSG00000100739 bradykinin receptor B1 BDKRB1 B1BKR, BKR1, bradyb1 Yes Yes Comparative Toxicogenomics Database:623, Ensembl:ENSG00000100739, GenAtlas:BDKRB1, GeneCard:BDKRB1, HGNC:HGNC:1029, HumanCyc Gene:HS02140, IUPHAR Receptor:41, ModBase:P46663, NCBI Gene:623, OMIM:600337, RefSeq DNA:NT_026437, RefSeq Protein:NP_000701, RefSeq RNA:NM_000710, UCSC Genome Browser:NM_000710, UniProtKB:P46663 No chr14 96721641 96735304 96256210 96264763 +PA80 624 HGNC:1030 ENSG00000168398 bradykinin receptor B2 BDKRB2 BK-2 Yes Yes Comparative Toxicogenomics Database:624, Ensembl:ENSG00000168398, GenAtlas:BDKRB2, GeneCard:BDKRB2, HGNC:HGNC:1030, HumanCyc Gene:HS09749, IUPHAR Receptor:42, ModBase:P30411, NCBI Gene:624, OMIM:113503, RefSeq DNA:NT_026437, RefSeq Protein:NP_000614, RefSeq RNA:NM_000623, UCSC Genome Browser:NM_000623, UniProtKB:P30411 No chr14 96671016 96710666 96204798 96244329 +PA31891 627 HGNC:1033 ENSG00000176697 brain derived neurotrophic factor BDNF brain-derived neurotrophic factor, neurotrophin Yes Yes Comparative Toxicogenomics Database:627, Ensembl:ENSG00000176697, GenAtlas:BDNF, GenAtlas:OCD1, GeneCard:BDNF, GeneCard:OCD1, HGNC:HGNC:1033, HumanCyc Gene:HS11071, ModBase:P23560, NCBI Gene:627, OMIM:113505, OMIM:164230, OMIM:209880, OMIM:606788, OMIM:607499, OMIM:610269, OMIM:612469, RefSeq DNA:NG_011794, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137277, RefSeq Protein:NP_001137278, RefSeq Protein:NP_001137279, RefSeq Protein:NP_001137280, RefSeq Protein:NP_001137281, RefSeq Protein:NP_001137282, RefSeq Protein:NP_001137283, RefSeq Protein:NP_001137284, RefSeq Protein:NP_001137285, RefSeq Protein:NP_001137286, RefSeq Protein:NP_001137287, RefSeq Protein:NP_001137288, RefSeq Protein:NP_001700, RefSeq Protein:NP_733927, RefSeq Protein:NP_733928, RefSeq Protein:NP_733929, RefSeq Protein:NP_733930, RefSeq Protein:NP_733931, RefSeq RNA:NM_001143805, RefSeq RNA:NM_001143806, RefSeq RNA:NM_001143807, RefSeq RNA:NM_001143808, RefSeq RNA:NM_001143809, RefSeq RNA:NM_001143810, RefSeq RNA:NM_001143811, RefSeq RNA:NM_001143812, RefSeq RNA:NM_001143813, RefSeq RNA:NM_001143814, RefSeq RNA:NM_001143815, RefSeq RNA:NM_001143816, RefSeq RNA:NM_001709, RefSeq RNA:NM_170731, RefSeq RNA:NM_170732, RefSeq RNA:NM_170733, RefSeq RNA:NM_170734, RefSeq RNA:NM_170735, UCSC Genome Browser:NM_001709, UniProtKB:P23560 No chr11 27676440 27743605 27654893 27722058 +PA134953249 497258 HGNC:20608 ENSG00000245573 BDNF antisense RNA BDNF-AS BDNF antisense RNA 1 (non-protein coding), non-protein coding RNA 49 BDNF-AS1, BT2A, BT2B, BT2C, BT2D, NCRNA00049 Yes Yes Ensembl:ENSG00000245573, GeneCard:BDNF-AS, HGNC:HGNC:20608, NCBI Gene:497258, OMIM:611468, RefSeq DNA:NT_009237, RefSeq RNA:NR_002832, RefSeq RNA:NR_033312, RefSeq RNA:NR_033313, RefSeq RNA:NR_033314, RefSeq RNA:NR_033315 No chr11 27528384 27719718 27506852 27698171 +PA25336 55814 HGNC:13652 ENSG00000145734 BDP1 general transcription factor IIIB subunit BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB HSA238520, KIAA1241, KIAA1689, TAF3B1, TFC5, TFIIIB150, TFIIIB90, TFNR Yes No Ensembl:ENSG00000145734, GenAtlas:BDP1, GeneCard:BDP1, HGNC:HGNC:13652, HumanCyc Gene:HS07280, NCBI Gene:55814, OMIM:607012, RefSeq DNA:NT_006713, RefSeq Protein:NP_060899, RefSeq RNA:NM_018429, UCSC Genome Browser:NM_018429, UniProtKB:A6H8Y1 No chr5 70751442 70863649 71455615 71578288 +PA166048958 146227 HGNC:24160 ENSG00000166546 brain expressed associated with NEDD4 1 BEAN1 brain expressed, associated with NEDD4, 1 SCA31 Yes No Ensembl:ENSG00000166546, HGNC:HGNC:24160, NCBI Gene:146227 No chr16 66461200 66527432 66427297 66495288 +PA25337 8678 HGNC:1034 ENSG00000126581 beclin 1 BECN1 """ATG6 autophagy related 6 homolog (S. cerevisiae)"", ""beclin 1, autophagy related""" ATG6, VPS30 Yes No Comparative Toxicogenomics Database:8678, Ensembl:ENSG00000126581, GenAtlas:BECN1, GeneCard:BECN1, HGNC:HGNC:1034, HumanCyc Gene:HS05034, ModBase:Q14457, NCBI Gene:8678, OMIM:604378, RefSeq DNA:NT_010783, RefSeq Protein:NP_003757, RefSeq RNA:NM_003766, UCSC Genome Browser:NM_003766, UniProtKB:Q14457 No chr17 40962150 40976310 42810132 42824316 +PA166180565 441925 HGNC:38606 ENSG00000196289 beclin 2 BECN2 BECN1P1 Yes No Ensembl:ENSG00000196289, HGNC:HGNC:38606, NCBI Gene:441925 No 0 0 0 0 +PA162377453 57596 HGNC:24163 ENSG00000183092 brain enriched guanylate kinase associated BEGAIN brain-enriched guanylate kinase-associated KIAA1446 Yes No Ensembl:ENSG00000183092, GeneCard:BEGAIN, HGNC:HGNC:24163, ModBase:Q9BUH8, NCBI Gene:57596, RefSeq DNA:NT_026437, RefSeq Protein:NP_001153003, RefSeq Protein:NP_065887, RefSeq RNA:NM_001159531, RefSeq RNA:NM_020836, UniProtKB:Q9BUH8 No chr14 101003484 101036131 100537147 100587404 +PA164716507 139105 HGNC:28509 ENSG00000177324 BEN domain containing 2 BEND2 CXorf20, MGC33653 Yes No Ensembl:ENSG00000177324, GeneCard:BEND2, HGNC:HGNC:28509, HumanCyc Gene:HS16831, NCBI Gene:139105, RefSeq DNA:NG_021323, RefSeq DNA:NT_167197, RefSeq Protein:NP_001171696, RefSeq Protein:NP_699177, RefSeq RNA:NM_001184767, RefSeq RNA:NM_153346, UniProtKB:B3KXX8, UniProtKB:Q8NDZ0 No chrX 18181051 18239024 18162931 18220904 +PA164716540 57673 HGNC:23040 ENSG00000178409 BEN domain containing 3 BEND3 BANP, E5R, and Nac1 (BEN) domain 3 KIAA1553 Yes No Ensembl:ENSG00000178409, GeneCard:BEND3, HGNC:HGNC:23040, ModBase:Q5T5X7, NCBI Gene:57673, RefSeq DNA:NT_025741, RefSeq Protein:NP_001073919, RefSeq RNA:NM_001080450, UniProtKB:Q5T5X7 No chr6 107386385 107436371 107065180 107115187 +PA164716541 389206 HGNC:23815 ENSG00000188848 BEN domain containing 4 BEND4 CCDC4, FLJ35632, FLJ43965 Yes No Ensembl:ENSG00000188848, GeneCard:BEND4, HGNC:HGNC:23815, NCBI Gene:389206, RefSeq DNA:NT_006238, RefSeq Protein:NP_001153019, RefSeq Protein:NP_997289, RefSeq RNA:NM_001159547, RefSeq RNA:NM_207406, UniProtKB:Q6ZU67 No chr4 42112870 42154895 42110853 42152878 +PA164716542 79656 HGNC:25668 ENSG00000162373 BEN domain containing 5 BEND5 C1orf165, FLJ11588 Yes No Ensembl:ENSG00000162373, GeneCard:BEND5, HGNC:HGNC:25668, HumanCyc Gene:HS14907, NCBI Gene:79656, RefSeq DNA:NT_032977, RefSeq Protein:NP_078879, RefSeq RNA:NM_024603, UniProtKB:Q7L4P6 No chr1 49193538 49242547 48727523 48778603 +PA164716559 221336 HGNC:20871 ENSG00000151917 BEN domain containing 6 BEND6 C6orf65, FLJ30162, bA203B9.1 Yes No Ensembl:ENSG00000151917, GeneCard:BEND6, HGNC:HGNC:20871, HumanCyc Gene:HS14397, ModBase:Q5SZJ8, NCBI Gene:221336, RefSeq DNA:NT_007592, RefSeq Protein:NP_689944, RefSeq RNA:NM_152731, UniProtKB:Q5SZJ8 No chr6 56819773 56892450 56954975 57027652 +PA164716578 222389 HGNC:23514 ENSG00000165626 BEN domain containing 7 BEND7 C10orf30, FLJ40283 Yes No Ensembl:ENSG00000165626, GeneCard:BEND7, HGNC:HGNC:23514, HumanCyc Gene:HS15345, NCBI Gene:222389, RefSeq DNA:NT_008705, RefSeq Protein:NP_001094382, RefSeq Protein:NP_689964, RefSeq RNA:NM_001100912, RefSeq RNA:NM_152751, UniProtKB:Q8N7W2 No chr10 13480484 13570587 13438484 13528772 +PA162377454 7439 HGNC:12703 ENSG00000167995 bestrophin 1 BEST1 Best disease BEST, BMD, RP50, VMD2 Yes No Ensembl:ENSG00000167995, GeneCard:BEST1, HGNC:HGNC:12703, HumanCyc Gene:HS09676, ModBase:O76090, NCBI Gene:7439, OMIM:153700, OMIM:153870, OMIM:193220, OMIM:607854, OMIM:608161, OMIM:611809, OMIM:613194, RefSeq DNA:NG_009033, RefSeq DNA:NT_167190, RefSeq Protein:NP_001132915, RefSeq Protein:NP_004174, RefSeq RNA:NM_001139443, RefSeq RNA:NM_004183, UniProtKB:O76090 No chr11 61717356 61731935 61946722 61964465 +PA162377481 54831 HGNC:17107 ENSG00000039987 bestrophin 2 BEST2 FLJ20132, VMD2L1 Yes No Ensembl:ENSG00000039987, GeneCard:BEST2, HGNC:HGNC:17107, HumanCyc Gene:HS00545, NCBI Gene:54831, OMIM:607335, RefSeq DNA:NT_011295, RefSeq Protein:NP_060152, RefSeq RNA:NM_017682, UniProtKB:Q8NFU1 No chr19 12862600 12869272 12751691 12758458 +PA162377503 144453 HGNC:17105 ENSG00000127325 bestrophin 3 BEST3 MGC13168, MGC40411, VMD2L3 Yes Yes Ensembl:ENSG00000127325, GeneCard:BEST3, HGNC:HGNC:17105, ModBase:Q8N1M1, NCBI Gene:144453, OMIM:607337, RefSeq DNA:NT_029419, RefSeq Protein:NP_116124, RefSeq Protein:NP_689652, RefSeq RNA:NM_032735, RefSeq RNA:NM_152439, UniProtKB:B5MDI8, UniProtKB:Q8N1M1 No chr12 70037334 70093196 69643508 69699416 +PA162377520 266675 HGNC:17106 ENSG00000142959 bestrophin 4 BEST4 VMD2L2 Yes No Ensembl:ENSG00000142959, GeneCard:BEST4, HGNC:HGNC:17106, HumanCyc Gene:HS06976, NCBI Gene:266675, OMIM:607336, RefSeq DNA:NT_032977, RefSeq Protein:NP_695006, RefSeq RNA:NM_153274, UniProtKB:Q8NFU0 No chr1 45247831 45253648 44781836 44792828 +PA25338 10282 HGNC:14562 ENSG00000105829 Bet1 golgi vesicular membrane trafficking protein BET1 Bet1p homolog, Golgi vesicular membrane trafficking protein p18 hbet1 Yes No Comparative Toxicogenomics Database:10282, Ensembl:ENSG00000105829, GenAtlas:BET1, GeneCard:BET1, HGNC:HGNC:14562, HumanCyc Gene:HS02816, ModBase:O15155, NCBI Gene:10282, OMIM:605456, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_005859, RefSeq RNA:NM_005868, UCSC Genome Browser:NM_005868, UniProtKB:O15155, UniProtKB:Q53XK0 No chr7 93592082 93633693 93962770 94004382 +PA134970036 51272 HGNC:19348 ENSG00000177951 Bet1 golgi vesicular membrane trafficking protein like BET1L Bet1 golgi vesicular membrane trafficking protein-like, golgi integral membrane protein 3 GOLIM3, GS15 Yes No Comparative Toxicogenomics Database:51272, Ensembl:ENSG00000177951, GeneCard:BET1L, HGNC:HGNC:19348, HumanCyc Gene:HS16953, ModBase:Q9NYM9, NCBI Gene:51272, RefSeq DNA:NT_009237, RefSeq Protein:NP_001092257, RefSeq Protein:NP_057610, RefSeq RNA:NM_001098787, RefSeq RNA:NM_016526, UniProtKB:A6NI60, UniProtKB:Q9NYM9 No chr11 202924 207422 202924 207422 +PA25340 55859 HGNC:1036 ENSG00000133169 brain expressed X-linked 1 BEX1 brain expressed, X-linked 1 Yes No Comparative Toxicogenomics Database:55859, Ensembl:ENSG00000133169, GenAtlas:BEX1, GeneCard:BEX1, HGNC:HGNC:1036, HumanCyc Gene:HS13466, NCBI Gene:55859, OMIM:300690, RefSeq DNA:NT_011651, RefSeq Protein:NP_060946, RefSeq RNA:NM_018476, UCSC Genome Browser:NM_018476, UniProtKB:Q9HBH7 No chrX 102317581 102319168 103062653 103064240 +PA134977614 84707 HGNC:30933 ENSG00000133134 brain expressed X-linked 2 BEX2 DJ79P11.1 Yes No Comparative Toxicogenomics Database:84707, Ensembl:ENSG00000133134, GeneCard:BEX2, HGNC:HGNC:30933, HumanCyc Gene:HS13463, NCBI Gene:84707, OMIM:300691, RefSeq DNA:NG_016254, RefSeq DNA:NT_011651, RefSeq Protein:NP_001161871, RefSeq Protein:NP_001161872, RefSeq Protein:NP_001161873, RefSeq Protein:NP_116010, RefSeq RNA:NM_001168399, RefSeq RNA:NM_001168400, RefSeq RNA:NM_001168401, RefSeq RNA:NM_032621, UniProtKB:Q9BXY8 No chrX 102564274 102565974 103309346 103311046 +PA31616 27018 HGNC:13388 ENSG00000166681 brain expressed X-linked 3 BEX3 """brain expressed, X-linked 3"", ""nerve growth factor receptor (TNFRSF16) associated protein 1""" BEX3, Bex, DXS6984E, HGR74, Hero20, NADE, NGFRAP1 Yes No Comparative Toxicogenomics Database:27018, Ensembl:ENSG00000166681, GenAtlas:NGFRAP1, GeneCard:NGFRAP1, HGNC:HGNC:13388, HumanCyc Gene:HS09435, NCBI Gene:27018, OMIM:300361, RefSeq DNA:NT_011651, RefSeq Protein:NP_055195, RefSeq Protein:NP_996798, RefSeq Protein:NP_996800, RefSeq RNA:NM_014380, RefSeq RNA:NM_206915, RefSeq RNA:NM_206917, UCSC Genome Browser:NM_014380, UniProtKB:Q00994 No chrX 102631268 102633001 103376323 103378164 +PA162377543 56271 HGNC:25475 ENSG00000102409 brain expressed X-linked 4 BEX4 brain expressed, X-linked 4 BEXL1, FLJ10097 Yes No Ensembl:ENSG00000102409, GeneCard:BEX4, HGNC:HGNC:25475, NCBI Gene:56271, OMIM:300692, RefSeq DNA:NG_021339, RefSeq DNA:NT_011651, RefSeq Protein:NP_001073894, RefSeq Protein:NP_001121160, RefSeq RNA:NM_001080425, RefSeq RNA:NM_001127688, UniProtKB:Q9NWD9 No chrX 102469996 102472128 103215092 103217200 +PA162377554 340542 HGNC:27990 ENSG00000184515 brain expressed X-linked 5 BEX5 brain expressed, X-linked 5 NGFRAP1L1 Yes No Ensembl:ENSG00000184515, GeneCard:BEX5, HGNC:HGNC:27990, NCBI Gene:340542, OMIM:300693, RefSeq DNA:NT_011651, RefSeq Protein:NP_001012996, RefSeq Protein:NP_001153032, RefSeq RNA:NM_001012978, RefSeq RNA:NM_001159560, UniProtKB:Q5H9J7 No chrX 101408679 101410986 102153707 102156014 +PA38460 51283 HGNC:17613 ENSG00000103429 bifunctional apoptosis regulator BFAR BAR, RNF47 Yes No Comparative Toxicogenomics Database:51283, Ensembl:ENSG00000103429, GenAtlas:BFAR, GeneCard:BFAR, HGNC:HGNC:17613, HumanCyc Gene:HS02504, ModBase:Q9NZS9, NCBI Gene:51283, RefSeq DNA:NT_010393, RefSeq Protein:NP_057645, RefSeq RNA:NM_016561, UCSC Genome Browser:NM_016561, UniProtKB:Q9NZS9 No chr16 14726668 14763093 14632811 14669236 +PA25343 631 HGNC:1040 ENSG00000125864 beaded filament structural protein 1 BFSP1 beaded filament structural protein 1, filensin CP115, CP94, LIFL-H, filensin Yes No Comparative Toxicogenomics Database:631, Ensembl:ENSG00000125864, GenAtlas:BFSP1, GeneCard:BFSP1, HGNC:HGNC:1040, HumanCyc Gene:HS04960, ModBase:Q12934, NCBI Gene:631, OMIM:603307, OMIM:611391, RefSeq DNA:NG_012423, RefSeq DNA:NT_011387, RefSeq Protein:NP_001155177, RefSeq Protein:NP_001186, RefSeq RNA:NM_001161705, RefSeq RNA:NM_001195, UCSC Genome Browser:NM_001195, UniProtKB:B7Z999, UniProtKB:Q12934 No chr20 17474550 17549865 17493905 17569220 +PA25344 8419 HGNC:1041 ENSG00000170819 beaded filament structural protein 2 BFSP2 beaded filament structural protein 2, phakinin CP47, CP49, LIFL-L, phakinin Yes No Comparative Toxicogenomics Database:8419, Ensembl:ENSG00000170819, GenAtlas:BFSP2, GeneCard:BFSP2, HGNC:HGNC:1041, HumanCyc Gene:HS10186, ModBase:Q13515, NCBI Gene:8419, OMIM:603212, OMIM:604219, OMIM:611597, RefSeq DNA:NG_012425, RefSeq DNA:NT_005612, RefSeq Protein:NP_003562, RefSeq RNA:NM_003571, UCSC Genome Browser:NM_003571, UniProtKB:Q13515 No chr3 133118790 133194056 133397882 133475212 +PA25345 632 HGNC:1043 ENSG00000242252 bone gamma-carboxyglutamate protein BGLAP bone gamma-carboxyglutamate (gla) protein, bone gla protein, osteocalcin OCN Yes Yes Comparative Toxicogenomics Database:632, Ensembl:ENSG00000242252, GenAtlas:BGLAP, GeneCard:BGLAP, HGNC:HGNC:1043, HumanCyc Gene:HS08533, ModBase:P02818, NCBI Gene:632, OMIM:112260, RefSeq DNA:NT_004487, RefSeq Protein:NP_954642, RefSeq RNA:NM_199173, UCSC Genome Browser:NM_000711, UniProtKB:P02818 No chr1 156211951 156213123 156241962 156243332 +PA25346 633 HGNC:1044 ENSG00000182492 biglycan BGN biglycan proteoglycan DSPG1, SLRR1A Yes No Comparative Toxicogenomics Database:633, Ensembl:ENSG00000182492, GenAtlas:BGN, GeneCard:BGN, HGNC:HGNC:1044, ModBase:P21810, NCBI Gene:633, OMIM:301870, RefSeq DNA:NG_015961, RefSeq DNA:NT_167198, RefSeq Protein:NP_001702, RefSeq RNA:NM_001711, UCSC Genome Browser:NM_001711, UniProtKB:P21810 No chrX 152760347 152775004 153494889 153509554 +PA164716601 168620 HGNC:22265 ENSG00000180535 basic helix-loop-helix family member a15 BHLHA15 basic helix-loop-helix family, member a15 BHLHB8, MIST1, bHLHa15 Yes No Ensembl:ENSG00000180535, GeneCard:BHLHA15, HGNC:HGNC:22265, ModBase:Q7RTS1, NCBI Gene:168620, OMIM:608606, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_803238, RefSeq RNA:NM_177455, UniProtKB:Q7RTS1 No chr7 97840759 97844769 98212254 98212959 +PA164716602 727857 HGNC:35126 ENSG00000205899 basic helix-loop-helix family member a9 BHLHA9 """Fingerin"", ""basic helix-loop-helix family, member a9""" BHLHF42, bHLHa9 Yes No Ensembl:ENSG00000205899, GeneCard:BHLHA9, HGNC:HGNC:35126, NCBI Gene:727857, RefSeq DNA:NT_010718, RefSeq Protein:NP_001157877, RefSeq Protein:XP_001125971, RefSeq Protein:XP_001126841, RefSeq Protein:XP_001717028, RefSeq RNA:NM_001164405, RefSeq RNA:XM_001125971, RefSeq RNA:XM_001126841, RefSeq RNA:XM_001716976, UniProtKB:Q7RTU4 No chr17 1173858 1174565 1270564 1271271 +PA36650 27319 HGNC:11963 ENSG00000180828 basic helix-loop-helix family member e22 BHLHE22 basic helix-loop-helix family, member e22 BHLHB5, Beta3, CAGL85, TNRC20, bHLHe22 Yes No Comparative Toxicogenomics Database:27319, Ensembl:ENSG00000180828, GenAtlas:BHLHB5, GeneCard:BHLHB5, GeneCard:BHLHE22, HGNC:HGNC:11963, HumanCyc Gene:HS17574, ModBase:Q8NFJ8, NCBI Gene:27319, OMIM:613483, RefSeq DNA:NT_008183, RefSeq Protein:NP_689627, RefSeq RNA:NM_152414, UCSC Genome Browser:NM_152414, UniProtKB:Q8NFJ8 No chr8 65492795 65496191 64580238 64583634 +PA164716615 128408 HGNC:16093 ENSG00000125533 basic helix-loop-helix family member e23 BHLHE23 basic helix-loop-helix family, member e23 BHLHB4, Beta4, bA305P22.3, bHLHe23 Yes No Ensembl:ENSG00000125533, GeneCard:BHLHE23, HGNC:HGNC:16093, ModBase:Q8NDY6, NCBI Gene:128408, OMIM:609331, RefSeq DNA:NT_011333, RefSeq Protein:NP_542173, RefSeq RNA:NM_080606, UniProtKB:Q8NDY6 No chr20 61637331 61638387 63005979 63007035 +PA25347 8553 HGNC:1046 ENSG00000134107 basic helix-loop-helix family member e40 BHLHE40 """basic helix-loop-helix family, member e40"", ""differentially expressed in chondrocytes 1"", ""differentiated embryo chondrocyte expressed gene 1""" BHLHB2, Clast5, DEC1, SHARP2, STRA13, bHLHe40 Yes No Comparative Toxicogenomics Database:8553, Ensembl:ENSG00000134107, GenAtlas:BHLHB2, GeneCard:BHLHB2, GeneCard:BHLHE40, HGNC:HGNC:1046, HumanCyc Gene:HS05818, NCBI Gene:8553, OMIM:604256, RefSeq DNA:NT_022517, RefSeq Protein:NP_003661, RefSeq RNA:NM_003670, UCSC Genome Browser:NM_003670, UniProtKB:O14503, UniProtKB:Q6IB83 No chr3 5021097 5026866 4979412 4985181 +PA164716636 79365 HGNC:16617 ENSG00000123095 basic helix-loop-helix family member e41 BHLHE41 """Enhancer-of-split and hairy-related protein 1"", ""basic helix-loop-helix family, member e41"", ""differentially expressed in chondrocytes 2""" BHLHB3, DEC2, SHARP-1, SHARP1, bHLHe41 Yes No Ensembl:ENSG00000123095, GeneCard:BHLHE41, HGNC:HGNC:16617, HumanCyc Gene:HS04626, ModBase:Q9C0J9, NCBI Gene:79365, OMIM:606200, OMIM:612975, RefSeq DNA:NG_021173, RefSeq DNA:NT_009714, RefSeq Protein:NP_110389, RefSeq RNA:NM_030762, UniProtKB:Q8TAT1, UniProtKB:Q9C0J9 No chr12 26272959 26278003 26120026 26125070 +PA25350 635 HGNC:1047 ENSG00000145692 betaine--homocysteine S-methyltransferase BHMT betaine homocysteine methyltransferase BHMT1 Yes No Comparative Toxicogenomics Database:635, Ensembl:ENSG00000145692, GenAtlas:BHMT, GeneCard:BHMT, HGNC:HGNC:1047, HumanCyc Gene:HS07273, ModBase:Q93088, NCBI Gene:635, OMIM:602888, RefSeq DNA:NT_006713, RefSeq Protein:NP_001704, RefSeq RNA:NM_001713, UCSC Genome Browser:NM_001713, UniProtKB:Q93088 No chr5 78407604 78428113 79111781 79132290 +PA25351 23743 HGNC:1048 ENSG00000132840 betaine--homocysteine S-methyltransferase 2 BHMT2 Yes No Comparative Toxicogenomics Database:23743, Ensembl:ENSG00000132840, GenAtlas:BHMT2, GeneCard:BHMT2, HGNC:HGNC:1048, HumanCyc Gene:HS05696, ModBase:Q9H2M3, NCBI Gene:23743, OMIM:605932, RefSeq DNA:NT_006713, RefSeq Protein:NP_001171476, RefSeq Protein:NP_060084, RefSeq RNA:NM_001178005, RefSeq RNA:NM_017614, UCSC Genome Browser:NM_017614, UniProtKB:Q9H2M3 No chr5 78365547 78385897 79069724 79090074 +PA134878124 80114 HGNC:19351 ENSG00000122870 BicC family RNA binding protein 1 BICC1 bicaudal C homolog 1 (Drosophila) Yes No Comparative Toxicogenomics Database:80114, Ensembl:ENSG00000122870, GeneCard:BICC1, HGNC:HGNC:19351, HumanCyc Gene:HS13071, ModBase:Q9H694, NCBI Gene:80114, RefSeq DNA:NT_030059, RefSeq Protein:NP_001073981, RefSeq RNA:NM_001080512, UniProtKB:Q9H694 No chr10 60272774 60591194 58512970 58831437 +PA25352 636 HGNC:1049 ENSG00000151746 BICD cargo adaptor 1 BICD1 bicaudal D homolog 1 (Drosophila) Yes No Comparative Toxicogenomics Database:636, Ensembl:ENSG00000151746, GenAtlas:BICD1, GeneCard:BICD1, HGNC:HGNC:1049, HumanCyc Gene:HS07768, ModBase:Q96G01, NCBI Gene:636, OMIM:602204, RefSeq DNA:NT_009714, RefSeq Protein:NP_001003398, RefSeq Protein:NP_001705, RefSeq RNA:NM_001003398, RefSeq RNA:NM_001714, UCSC Genome Browser:NM_001714, UniProtKB:A8MVZ6, UniProtKB:Q96G01 No chr12 32259713 32536567 32106736 32383637 +PA134969018 23299 HGNC:17208 ENSG00000185963 BICD cargo adaptor 2 BICD2 bicaudal D homolog 2 (Drosophila) KIAA0699 Yes No Comparative Toxicogenomics Database:23299, Ensembl:ENSG00000185963, GeneCard:BICD2, HGNC:HGNC:17208, HumanCyc Gene:HS13228, ModBase:Q8TD16, NCBI Gene:23299, OMIM:609797, RefSeq DNA:NT_008470, RefSeq Protein:NP_001003800, RefSeq Protein:NP_056065, RefSeq RNA:NM_001003800, RefSeq RNA:NM_015250, UniProtKB:Q8TD16 No chr9 95473645 95527083 92711363 92764841 +PA143485416 92558 HGNC:28095 ENSG00000135127 BICD family like cargo adaptor 1 BICDL1 Bicaudal D related 1, coiled-coil domain containing 64 BICDR-1, CCDC64, FLJ26450 Yes No Comparative Toxicogenomics Database:92558, Ensembl:ENSG00000135127, GeneCard:CCDC64, HGNC:HGNC:28095, ModBase:Q6ZP65, NCBI Gene:92558, RefSeq DNA:NT_009775, RefSeq Protein:NP_997194, RefSeq RNA:NM_207311, UniProtKB:A8MUC8, UniProtKB:Q6ZP65 No chr12 120427648 120532299 119989806 120094495 +PA162381686 146439 HGNC:33584 ENSG00000162069 BICD family like cargo adaptor 2 BICDL2 coiled-coil domain containing 64B CCDC64B Yes No Ensembl:ENSG00000162069, GeneCard:CCDC64B, HGNC:HGNC:33584, ModBase:A1A5D9, NCBI Gene:146439, RefSeq DNA:NT_010393, RefSeq Protein:NP_001096645, RefSeq RNA:NM_001103175, UniProtKB:A1A5D9 No chr16 3077683 3086950 3027710 3036985 +PA28735 29998 HGNC:4332 ENSG00000063169 BRD4 interacting chromatin remodeling complex associated protein BICRA glioma tumor suppressor candidate region gene 1 GLTSCR1, SMARCK1 Yes No Ensembl:ENSG00000063169, GenAtlas:GLTSCR1, GeneCard:GLTSCR1, HGNC:HGNC:4332, HumanCyc Gene:HS00775, NCBI Gene:29998, OMIM:605690, RefSeq DNA:NT_011109, RefSeq Protein:NP_056526, RefSeq RNA:NM_015711, UCSC Genome Browser:NM_015711, UniProtKB:Q9NZM4 No chr19 48111453 48206534 47608196 47703277 +PA134964468 23506 HGNC:21111 ENSG00000112624 BICRA like chromatin remodeling complex associated protein BICRAL BRD4 interacting chromatin remodeling complex associated protein like, GLTSCR1-like GLTSCR1L, KIAA0240, SMARCK2 Yes No Ensembl:ENSG00000112624, GeneCard:KIAA0240, HGNC:HGNC:21111, ModBase:Q6AI39, NCBI Gene:23506, RefSeq DNA:NT_007592, RefSeq Protein:NP_056164, RefSeq RNA:NM_015349, UniProtKB:Q6AI39 No chr6 42749790 42836296 42746958 42868560 +PA25353 637 HGNC:1050 ENSG00000015475 BH3 interacting domain death agonist BID Yes No Comparative Toxicogenomics Database:637, Ensembl:ENSG00000015475, GenAtlas:BID, GeneCard:BID, HGNC:HGNC:1050, HumanCyc Gene:HS00368, ModBase:P55957, NCBI Gene:637, OMIM:601997, RefSeq DNA:NT_011519, RefSeq Protein:NP_001187, RefSeq Protein:NP_932070, RefSeq Protein:NP_932071, RefSeq RNA:NM_001196, RefSeq RNA:NM_197966, RefSeq RNA:NM_197967, UCSC Genome Browser:NM_001196, UniProtKB:A8ASI8, UniProtKB:B2ZP79, UniProtKB:B3KT21, UniProtKB:P55957 No chr22 18216906 18257431 17734140 17774665 +PA25354 638 HGNC:1051 ENSG00000100290 BCL2 interacting killer BIK BCL2-interacting killer (apoptosis-inducing), natural born killer NBK Yes No Comparative Toxicogenomics Database:638, Ensembl:ENSG00000100290, GenAtlas:BIK, GeneCard:BIK, HGNC:HGNC:1051, HumanCyc Gene:HS02026, ModBase:Q13323, NCBI Gene:638, OMIM:603392, RefSeq DNA:NT_011520, RefSeq Protein:NP_001188, RefSeq RNA:NM_001197, UCSC Genome Browser:NM_001197, UniProtKB:Q13323 No chr22 43506754 43525718 43110748 43129712 +PA25355 274 HGNC:1052 ENSG00000136717 bridging integrator 1 BIN1 Myc box-dependent-interacting protein 1, amphiphysin 2, amphiphysin II AMPH2, AMPHL, SH3P9 Yes No Comparative Toxicogenomics Database:274, Ensembl:ENSG00000136717, GenAtlas:BIN1, GeneCard:BIN1, HGNC:HGNC:1052, HumanCyc Gene:HS06202, ModBase:O75514, NCBI Gene:274, OMIM:255200, OMIM:601248, RefSeq DNA:NG_012042, RefSeq DNA:NT_022135, RefSeq Protein:NP_004296, RefSeq Protein:NP_647593, RefSeq Protein:NP_647594, RefSeq Protein:NP_647595, RefSeq Protein:NP_647596, RefSeq Protein:NP_647597, RefSeq Protein:NP_647598, RefSeq Protein:NP_647599, RefSeq Protein:NP_647600, RefSeq Protein:NP_647601, RefSeq RNA:NM_004305, RefSeq RNA:NM_139343, RefSeq RNA:NM_139344, RefSeq RNA:NM_139345, RefSeq RNA:NM_139346, RefSeq RNA:NM_139347, RefSeq RNA:NM_139348, RefSeq RNA:NM_139349, RefSeq RNA:NM_139350, RefSeq RNA:NM_139351, UCSC Genome Browser:NM_004305, UniProtKB:O00499 No chr2 127805599 127864903 127048023 127107400 +PA25356 51411 HGNC:1053 ENSG00000110934 bridging integrator 2 BIN2 BRAP-1 Yes No Ensembl:ENSG00000110934, GenAtlas:BIN2, GeneCard:BIN2, HGNC:HGNC:1053, HumanCyc Gene:HS03357, ModBase:Q9UBW5, NCBI Gene:51411, OMIM:605936, RefSeq DNA:NT_029419, RefSeq Protein:NP_057377, RefSeq RNA:NM_016293, UCSC Genome Browser:NM_016187, UniProtKB:Q9UBW5 No chr12 51674822 51718446 51281038 51324680 +PA25357 55909 HGNC:1054 ENSG00000147439 bridging integrator 3 BIN3 Yes No Comparative Toxicogenomics Database:55909, Ensembl:ENSG00000147439, GenAtlas:BIN3, GeneCard:BIN3, HGNC:HGNC:1054, HumanCyc Gene:HS07434, ModBase:Q9NQY0, NCBI Gene:55909, OMIM:606396, RefSeq DNA:NT_167187, RefSeq Protein:NP_061158, RefSeq RNA:NM_018688, UCSC Genome Browser:NM_018688, UniProtKB:Q9NQY0 No chr8 22477931 22526661 22620418 22669148 +PA25359 329 HGNC:590 ENSG00000110330 baculoviral IAP repeat containing 2 BIRC2 NFR2-TRAF signalling complex protein, apoptosis inhibitor 1 API1, MIHB, RNF48, c-IAP1, cIAP1, hiap-2 Yes No Comparative Toxicogenomics Database:329, Ensembl:ENSG00000110330, GenAtlas:BIRC2, GeneCard:BIRC2, HGNC:HGNC:590, HumanCyc Gene:HS03301, ModBase:Q13490, NCBI Gene:329, OMIM:601712, RefSeq DNA:NT_033899, RefSeq Protein:NP_001157, RefSeq RNA:NM_001166, UCSC Genome Browser:NM_001166, UniProtKB:Q13490 No chr11 102217913 102249401 102347182 102378670 +PA25360 330 HGNC:591 ENSG00000023445 baculoviral IAP repeat containing 3 BIRC3 TNFR2-TRAF signaling complex protein, apoptosis inhibitor 2, inhibitor of apoptosis protein 1, mammalian IAP homolog C API2, MALT2, MIHC, RNF49, c-IAP2, cIAP2, hiap-1 Yes No Comparative Toxicogenomics Database:330, Ensembl:ENSG00000023445, GenAtlas:BIRC3, GeneCard:BIRC3, HGNC:HGNC:591, HumanCyc Gene:HS00425, ModBase:Q13489, NCBI Gene:330, OMIM:601721, RefSeq DNA:NT_033899, RefSeq Protein:NP_001156, RefSeq Protein:NP_892007, RefSeq RNA:NM_001165, RefSeq RNA:NM_182962, UCSC Genome Browser:NM_001165, UniProtKB:Q13489 No chr11 102188181 102210134 102317450 102339403 +PA25362 332 HGNC:593 ENSG00000089685 baculoviral IAP repeat containing 5 BIRC5 survivin variant 3 alpha API4, EPR-1, survivin Yes Yes Comparative Toxicogenomics Database:332, Ensembl:ENSG00000089685, GenAtlas:BIRC5, GeneCard:BIRC5, HGNC:HGNC:593, HumanCyc Gene:HS01661, ModBase:O15392, NCBI Gene:332, OMIM:603352, RefSeq DNA:NT_010783, RefSeq Protein:NP_001012270, RefSeq Protein:NP_001012271, RefSeq Protein:NP_001159, RefSeq RNA:NM_001012270, RefSeq RNA:NM_001012271, RefSeq RNA:NM_001168, UCSC Genome Browser:NM_001168, UniProtKB:O15392 No chr17 76210277 76221716 78214196 78225635 +PA25363 57448 HGNC:13516 ENSG00000115760 baculoviral IAP repeat containing 6 BIRC6 apollon BRUCE Yes No Comparative Toxicogenomics Database:57448, Ensembl:ENSG00000115760, GenAtlas:BIRC6, GeneCard:BIRC6, HGNC:HGNC:13516, HumanCyc Gene:HS03936, ModBase:Q9NR09, NCBI Gene:57448, OMIM:605638, RefSeq DNA:NT_022184, RefSeq Protein:NP_057336, RefSeq RNA:NM_016252, UCSC Genome Browser:NM_016252, UniProtKB:Q9NR09 No chr2 32581735 32843966 32356907 32618899 +PA25364 79444 HGNC:13702 ENSG00000101197 baculoviral IAP repeat containing 7 BIRC7 kidney inhibitor of apoptosis protein, livin, livin inhibitor-of-apoptosis, melanoma inhibitor of apoptosis protein KIAP, ML-IAP, RNF50, mliap Yes No Comparative Toxicogenomics Database:79444, Ensembl:ENSG00000101197, GenAtlas:BIRC7, GeneCard:BIRC7, HGNC:HGNC:13702, HumanCyc Gene:HS02216, ModBase:Q96CA5, NCBI Gene:79444, OMIM:605737, RefSeq DNA:NT_011333, RefSeq Protein:NP_071444, RefSeq Protein:NP_647478, RefSeq RNA:NM_022161, RefSeq RNA:NM_139317, UCSC Genome Browser:NM_022161, UniProtKB:Q96CA5 No chr20 61867235 61871859 63235883 63240507 +PA25365 112401 HGNC:14878 ENSG00000163098 baculoviral IAP repeat containing 8 BIRC8 IAP-like protein 2, inhibitor of apoptosis-like protein 2 ILP-2, RNF136, hILP2 Yes No Ensembl:ENSG00000163098, GenAtlas:BIRC8, GeneCard:BIRC8, HGNC:HGNC:14878, HumanCyc Gene:HS11456, ModBase:Q96P09, NCBI Gene:112401, RefSeq DNA:NT_011109, RefSeq Protein:NP_203127, RefSeq RNA:NM_033341, UCSC Genome Browser:NM_033341, UniProtKB:Q6PIA0, UniProtKB:Q96P09 No chr19 53792854 53794875 53289601 53291622 +PA25366 54841 HGNC:16034 ENSG00000134897 basic, immunoglobulin-like variable motif containing BIVM FLJ20159 Yes No Ensembl:ENSG00000134897, GenAtlas:BIVM, GeneCard:BIVM, HGNC:HGNC:16034, HumanCyc Gene:HS13550, ModBase:Q86UB2, NCBI Gene:54841, RefSeq DNA:NT_009952, RefSeq Protein:NP_001153068, RefSeq Protein:NP_060163, RefSeq RNA:NM_001159596, RefSeq RNA:NM_017693, UCSC Genome Browser:NM_017693, UniProtKB:Q86UB2 No chr13 103451399 103493888 102799049 102841538 +PA166352183 101669762 HGNC:48597 BLACAT1 overlapping LEMD1 locus BLACAT1 long intergenic non-protein coding RNA 912, long intergenic noncoding RNA up-regulated in bladder cancer LINC00912, linc-UBC1, onco-lncRNA-30 Yes No HGNC:HGNC:48597, NCBI Gene:101669762 No 0 0 0 0 +PA134883316 338436 HGNC:20484 ENSG00000204960 B-cell acute lymphoblastic leukemia expressed BLACE Yes No Ensembl:ENSG00000204960, GeneCard:BLACE, HGNC:HGNC:20484, NCBI Gene:338436, OMIM:608450 No chr7 155149683 155160628 155356988 155367933 +PA25367 10904 HGNC:1055 ENSG00000166619 BLCAP apoptosis inducing factor BLCAP """BLCAP, apoptosis inducing factor"", ""bladder cancer associated protein""" BC10 Yes No Comparative Toxicogenomics Database:10904, Ensembl:ENSG00000166619, GenAtlas:BLCAP, GeneCard:BLCAP, HGNC:HGNC:1055, HumanCyc Gene:HS09428, NCBI Gene:10904, OMIM:613110, RefSeq DNA:NT_011362, RefSeq Protein:NP_001161292, RefSeq Protein:NP_001161293, RefSeq Protein:NP_001161294, RefSeq Protein:NP_001161295, RefSeq Protein:NP_006689, RefSeq RNA:NM_001167820, RefSeq RNA:NM_001167821, RefSeq RNA:NM_001167822, RefSeq RNA:NM_001167823, RefSeq RNA:NM_006698, UCSC Genome Browser:NM_006698, UniProtKB:P62952 No chr20 36145819 36156333 37517417 37527931 +PA162377555 414899 HGNC:33495 ENSG00000259571 BH3-like motif containing, cell death inducer BLID breast cancer cell 2 BRCC2 Yes No Ensembl:ENSG00000259571, GeneCard:BLID, HGNC:HGNC:33495, NCBI Gene:414899, OMIM:608853, RefSeq DNA:NT_033899, RefSeq Protein:NP_001001786, RefSeq RNA:NM_001001786, UniProtKB:Q8IZY5 No chr11 121986062 121986923 122115354 122116215 +PA25368 640 HGNC:1057 ENSG00000136573 BLK proto-oncogene, Src family tyrosine kinase BLK B lymphoid tyrosine kinase MGC10442 Yes Yes Comparative Toxicogenomics Database:640, Ensembl:ENSG00000136573, GenAtlas:BLK, GeneCard:BLK, HGNC:HGNC:1057, HumanCyc Gene:HS06184, ModBase:P51451, NCBI Gene:640, OMIM:191305, OMIM:613375, RefSeq DNA:NG_023543, RefSeq DNA:NT_077531, RefSeq Protein:NP_001706, RefSeq RNA:NM_001715, UCSC Genome Browser:NM_001715, UniProtKB:P51451, UniProtKB:Q05D26, UniProtKB:Q96IN1 No chr8 11351521 11422108 11493991 11564599 +PA25369 641 HGNC:1058 ENSG00000197299 BLM RecQ like helicase BLM Bloom syndrome, RecQ helicase-like BS, RECQ2, RECQL3 Yes No Comparative Toxicogenomics Database:641, Ensembl:ENSG00000197299, GenAtlas:BLM, GeneCard:BLM, HGNC:HGNC:1058, ModBase:P54132, NCBI Gene:641, OMIM:210900, OMIM:604610, RefSeq DNA:NG_007272, RefSeq DNA:NT_010274, RefSeq Protein:NP_000048, RefSeq RNA:NM_000057, UCSC Genome Browser:NM_000057, UniProtKB:P54132 No chr15 91260579 91358686 90717327 90815462 +PA25370 642 HGNC:1059 ENSG00000108578 bleomycin hydrolase BLMH BH Yes Yes Comparative Toxicogenomics Database:642, Ensembl:ENSG00000108578, GenAtlas:BLMH, GeneCard:BLMH, HGNC:HGNC:1059, HumanCyc Gene:HS03127, ModBase:Q13867, NCBI Gene:642, OMIM:104300, OMIM:602403, RefSeq DNA:NG_011440, RefSeq DNA:NT_010799, RefSeq Protein:NP_000377, RefSeq RNA:NM_000386, UCSC Genome Browser:NM_000386, UniProtKB:Q13867 No chr17 28575213 28619184 30248195 30292166 +PA25371 29760 HGNC:14211 ENSG00000095585 B cell linker BLNK B cell adaptor containing SH2 domain, B-cell activation, B-cell adapter containing a SH2 domain protein, B-cell linker, Src homology [SH2] domain-containing leukocyte protein of 65 kD BASH, BLNK-s, Ly57, SLP-65, SLP65, bca Yes No Comparative Toxicogenomics Database:29760, Ensembl:ENSG00000095585, GenAtlas:BLNK, GeneCard:BLNK, HGNC:HGNC:14211, HumanCyc Gene:HS01826, ModBase:Q8WV28, NCBI Gene:29760, OMIM:604515, RefSeq DNA:NG_007575, RefSeq DNA:NT_030059, RefSeq Protein:NP_001107566, RefSeq Protein:NP_037446, RefSeq RNA:NM_001114094, RefSeq RNA:NM_013314, UCSC Genome Browser:NM_013314, UniProtKB:Q8WV28 No chr10 97951455 98031333 96189171 96271576 +PA28617 2647 HGNC:4200 ENSG00000135441 biogenesis of lysosomal organelles complex 1 subunit 1 BLOC1S1 """BLOC-1 Subunit 1"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"", ""GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1"", ""biogenesis of lysosomal organelles complex-1, subunit 1""" BLOS1, BORCS1, GCN5L1 Yes No Comparative Toxicogenomics Database:2647, Ensembl:ENSG00000135441, GenAtlas:BLOC1S1, GeneCard:BLOC1S1, HGNC:HGNC:4200, HumanCyc Gene:HS06005, NCBI Gene:2647, OMIM:601444, RefSeq DNA:NT_029419, RefSeq Protein:NP_001478, RefSeq RNA:NM_001487, RefSeq RNA:NR_037655, RefSeq RNA:NR_037656, RefSeq RNA:NR_037657, UCSC Genome Browser:NM_001487, UniProtKB:P78537 No chr12 56109818 56113491 55716034 55719707 +PA134936108 282991 HGNC:20984 ENSG00000196072 biogenesis of lysosomal organelles complex 1 subunit 2 BLOC1S2 """BLOC-1 subunit 2"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 2"", ""biogenesis of lysosomal organelles complex-1, subunit 2"", ""centrosome protein oncogene""" BLOS2, BORCS2, FLJ30135, MGC10120 Yes No Comparative Toxicogenomics Database:282991, Ensembl:ENSG00000196072, GeneCard:BLOC1S2, HGNC:HGNC:20984, NCBI Gene:282991, OMIM:609768, RefSeq DNA:NT_030059, RefSeq Protein:NP_001001342, RefSeq Protein:NP_776170, RefSeq RNA:NM_001001342, RefSeq RNA:NM_173809, UniProtKB:Q6QNY1 No chr10 102033035 102046469 100273278 100286712 +PA134884924 388552 HGNC:20914 ENSG00000189114 biogenesis of lysosomal organelles complex 1 subunit 3 BLOC1S3 """BLOC-1 subunit 3"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 3"", ""Hermansky-Pudlak syndrome 8"", ""biogenesis of lysosomal organelles complex-1, subunit 3""" BLOS3, HPS8 Yes No Comparative Toxicogenomics Database:388552, Ensembl:ENSG00000189114, GeneCard:BLOC1S3, HGNC:HGNC:20914, ModBase:Q6QNY0, NCBI Gene:388552, OMIM:203300, OMIM:609762, RefSeq DNA:NG_008372, RefSeq DNA:NT_011109, RefSeq Protein:NP_997715, RefSeq RNA:NM_212550, UniProtKB:Q6QNY0 No chr19 45682003 45685058 45178745 45202715 +PA142672088 55330 HGNC:24206 ENSG00000186222 biogenesis of lysosomal organelles complex 1 subunit 4 BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino BCAS4L, CNO, FLJ11230 Yes No Comparative Toxicogenomics Database:55330, Ensembl:ENSG00000186222, GeneCard:CNO, HGNC:HGNC:24206, HumanCyc Gene:HS17174, ModBase:Q9NUP1, NCBI Gene:55330, OMIM:605695, RefSeq DNA:NT_006051, RefSeq Protein:NP_060836, RefSeq RNA:NM_018366, UniProtKB:Q9NUP1 No chr4 6717842 6719387 6716115 6717660 +PA134921692 63915 HGNC:18561 ENSG00000188428 biogenesis of lysosomal organelles complex 1 subunit 5 BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted MU, MUTED, dJ303A1.3 Yes No Comparative Toxicogenomics Database:63915, Ensembl:ENSG00000188428, GeneCard:MUTED, HGNC:HGNC:18561, ModBase:Q8TDH9, NCBI Gene:63915, OMIM:607289, RefSeq DNA:NT_007592, RefSeq Protein:NP_001186251, RefSeq Protein:NP_001186252, RefSeq Protein:NP_958437, RefSeq RNA:NM_001199322, RefSeq RNA:NM_001199323, RefSeq RNA:NM_201280, UniProtKB:Q8TDH9 No chr6 8013800 8064647 8013567 8064414 +PA33398 26258 HGNC:8549 ENSG00000104164 biogenesis of lysosomal organelles complex 1 subunit 6 BLOC1S6 """BLOC-1 subunit pallidin"", ""biogenesis of lysosomal organelles complex-1, subunit 6, pallidin""" HPS9, PA, PLDN Yes No Comparative Toxicogenomics Database:26258, Ensembl:ENSG00000104164, GenAtlas:PLDN, GeneCard:PLDN, HGNC:HGNC:8549, HumanCyc Gene:HS02550, ModBase:Q9UL45, NCBI Gene:26258, OMIM:604310, RefSeq DNA:NT_010194, RefSeq Protein:NP_036520, RefSeq RNA:NM_012388, UCSC Genome Browser:NM_012388, UniProtKB:B3KY40, UniProtKB:Q9UL45 No chr15 45879417 45901909 45587123 45609716 +PA142671621 84162 HGNC:26953 ENSG00000138688 bridge-like lipid transfer protein family member 1 BLTP1 fragile site-associated FLJ21404, FSA, KIAA1109, KIAA1371, Tweek Yes No Ensembl:ENSG00000138688, GeneCard:KIAA1109, HGNC:HGNC:26953, NCBI Gene:84162, OMIM:611565, RefSeq DNA:NG_015813, RefSeq DNA:NT_016354, RefSeq Protein:NP_056127, RefSeq RNA:NM_015312, UniProtKB:Q2LD37 No chr4 123073488 123283914 122152333 122362759 +PA142671635 9703 HGNC:28960 ENSG00000007202 bridge-like lipid transfer protein family member 2 BLTP2 breast cancer overexpressed gene 1, cancer/testis antigen 101 BCOX, BCOX1, CT101, DKFZp686M0843, FMP27, Hob, KIAA0100, MGC111488 Yes No Comparative Toxicogenomics Database:9703, Ensembl:ENSG00000007202, GeneCard:KIAA0100, HGNC:HGNC:28960, HumanCyc Gene:HS12020, ModBase:Q14667, NCBI Gene:9703, OMIM:610664, RefSeq DNA:NT_010799, RefSeq Protein:NP_055495, RefSeq RNA:NM_014680, UniProtKB:Q14667 No chr17 26941458 26972177 28614440 28645159 +PA162408530 54887 HGNC:21216 ENSG00000065060 bridge-like lipid transfer protein family member 3A BLTP3A UHRF1 binding protein 1 C6orf107, FLJ20302, ICBP90, UHRF1BP1, dJ349A12.1 Yes No Ensembl:ENSG00000065060, GeneCard:UHRF1BP1, HGNC:HGNC:21216, ModBase:Q6BDS2, NCBI Gene:54887, RefSeq DNA:NT_007592, RefSeq Protein:NP_060224, RefSeq RNA:NM_017754, UniProtKB:Q6BDS2 No chr6 34759794 34845291 34792017 34877514 +PA162408577 23074 HGNC:29102 ENSG00000111647 bridge-like lipid transfer protein family member 3B BLTP3B UHRF1 binding protein 1 like, UHRF1 binding protein 1-like KIAA0701, SHIP164, UHRF1BP1L Yes No Ensembl:ENSG00000111647, GeneCard:UHRF1BP1L, HGNC:HGNC:29102, ModBase:A0JNW5, NCBI Gene:23074, RefSeq DNA:NT_029419, RefSeq Protein:NP_001006948, RefSeq Protein:NP_055869, RefSeq RNA:NM_001006947, RefSeq RNA:NM_015054, UniProtKB:A0JNW5 No chr12 +PA25373 644 HGNC:1062 ENSG00000106605 biliverdin reductase A BLVRA biliverdin reductase IXalpha BLVR, BVRA, BVRalpha Yes No Comparative Toxicogenomics Database:644, Ensembl:ENSG00000106605, GenAtlas:BLVRA, GeneCard:BLVRA, HGNC:HGNC:1062, HumanCyc Gene:HS02928, ModBase:P53004, NCBI Gene:644, OMIM:109750, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000703, RefSeq RNA:NM_000712, UCSC Genome Browser:NM_000712, UniProtKB:P53004 No chr7 43798272 43846941 43758153 43807342 +PA25374 645 HGNC:1063 ENSG00000090013 biliverdin reductase B BLVRB """(flavin reductase (NADPH))"", ""biliverdin reductase B (flavin reductase (NADPH))"", ""short chain dehydrogenase/reductase family 43U, member 1""" FLR, SDR43U1 Yes No Comparative Toxicogenomics Database:645, Ensembl:ENSG00000090013, GenAtlas:BLVRB, GeneCard:BLVRB, HGNC:HGNC:1063, HumanCyc Gene:HS01670, ModBase:P30043, NCBI Gene:645, OMIM:600941, RefSeq DNA:NT_011109, RefSeq Protein:NP_000704, RefSeq RNA:NM_000713, UCSC Genome Browser:NM_000713, UniProtKB:P30043 No chr19 40953691 40971725 40447784 40465818 +PA25375 8548 HGNC:1065 ENSG00000117475 basic leucine zipper nuclear factor 1 BLZF1 golgin-45 JEM-1 Yes No Comparative Toxicogenomics Database:8548, Ensembl:ENSG00000117475, GenAtlas:BLZF1, GeneCard:BLZF1, HGNC:HGNC:1065, ModBase:Q9H2G9, NCBI Gene:8548, OMIM:608692, RefSeq DNA:NT_004487, RefSeq Protein:NP_003657, RefSeq RNA:NM_003666, UCSC Genome Browser:NM_003666, UniProtKB:Q9H2G9 No chr1 169337122 169365782 169367879 169396544 +PA134968800 317729 HGNC:20049 ENSG00000258565 basic leucine zipper nuclear factor 2 pseudogene BLZF2P Yes No Ensembl:ENSG00000258565, GeneCard:BLZF2P, HGNC:HGNC:20049, NCBI Gene:317729, RefSeq DNA:NG_002462, RefSeq DNA:NT_026437 No chr14 69333375 69336827 68866659 68870128 +PA24996 406 HGNC:701 ENSG00000133794 basic helix-loop-helix ARNT like 1 BMAL1 PAS domain containing 3, aryl hydrocarbon receptor nuclear translocator like, aryl hydrocarbon receptor nuclear translocator-like, basic helix-loop-helix family member e5, brain and muscle ARNT-like 1, member of PAS superfamily 3 ARNTL, ARNTL1, BMAL1, JAP3, MOP3, PASD3, bHLHe5 Yes Yes Comparative Toxicogenomics Database:406, Ensembl:ENSG00000133794, GenAtlas:ARNTL, GeneCard:ARNTL, HGNC:HGNC:701, HumanCyc Gene:HS05787, ModBase:Q99649, NCBI Gene:406, OMIM:602550, RefSeq DNA:NT_009237, RefSeq Protein:NP_001025443, RefSeq Protein:NP_001025444, RefSeq Protein:NP_001169, RefSeq RNA:NM_001030272, RefSeq RNA:NM_001030273, RefSeq RNA:NM_001178, UCSC Genome Browser:NM_001178, UniProtKB:A2I2N6, UniProtKB:O00327 No chr11 13299325 13408813 13276613 13387268 +PA134896555 56938 HGNC:18984 ENSG00000029153 basic helix-loop-helix ARNT like 2 BMAL2 aryl hydrocarbon receptor nuclear translocator like 2, aryl hydrocarbon receptor nuclear translocator-like 2, member of PAS superfamily 9 ARNTL2, BMAL2, CLIF, MOP9, PASD9, bHLHe6 Yes No Ensembl:ENSG00000029153, GeneCard:ARNTL2, HGNC:HGNC:18984, HumanCyc Gene:HS00467, ModBase:Q9NYQ5, NCBI Gene:56938, RefSeq DNA:NT_009714, RefSeq Protein:NP_064568, RefSeq RNA:NM_020183, UniProtKB:Q8WYA1 No chr12 27485787 27578746 27332854 27425813 +PA134973206 89927 HGNC:19213 ENSG00000166780 bMERB domain containing 1 BMERB1 chromosome 16 open reading frame 45 C16orf45, FLJ32618 Yes No Comparative Toxicogenomics Database:89927, Ensembl:ENSG00000166780, GeneCard:C16orf45, HGNC:HGNC:19213, HumanCyc Gene:HS15481, ModBase:Q96MC5, NCBI Gene:89927, RefSeq DNA:NT_010393, RefSeq Protein:NP_001135941, RefSeq Protein:NP_149978, RefSeq RNA:NM_001142469, RefSeq RNA:NM_033201, UniProtKB:Q96MC5 No chr16 15528325 15682116 15434468 15594521 +PA134893658 90427 HGNC:24132 ENSG00000104081 Bcl2 modifying factor BMF FLJ00065 Yes No Comparative Toxicogenomics Database:90427, Ensembl:ENSG00000104081, GeneCard:BMF, HGNC:HGNC:24132, HumanCyc Gene:HS12541, ModBase:Q96LC9, NCBI Gene:90427, OMIM:606266, RefSeq DNA:NT_010194, RefSeq Protein:NP_001003940, RefSeq Protein:NP_001003942, RefSeq Protein:NP_001003943, RefSeq Protein:NP_277038, RefSeq RNA:NM_001003940, RefSeq RNA:NM_001003942, RefSeq RNA:NM_001003943, RefSeq RNA:NM_033503, UniProtKB:Q96LC9 No chr15 40380091 40401088 40087890 40108884 +PA25376 648 HGNC:1066 ENSG00000168283 BMI1 proto-oncogene, polycomb ring finger BMI1 BMI1 polycomb ring finger oncogene PCGF4, RNF51 Yes No Comparative Toxicogenomics Database:648, Ensembl:ENSG00000168283, GenAtlas:BMI1, GeneCard:BMI1, HGNC:HGNC:1066, HumanCyc Gene:HS09726, ModBase:P35226, NCBI Gene:648, OMIM:164831, RefSeq DNA:NT_008705, RefSeq Protein:NP_005171, RefSeq RNA:NM_005180, UCSC Genome Browser:NM_005180, UniProtKB:P35226 No chr10 22610139 22620414 22321210 22331485 +PA25377 649 HGNC:1067 ENSG00000168487 bone morphogenetic protein 1 BMP1 procollagen C-endopeptidase, tolloid-like BMP-1, PCOLC Yes No Comparative Toxicogenomics Database:649, Ensembl:ENSG00000168487, GenAtlas:BMP1, GeneCard:BMP1, HGNC:HGNC:1067, HumanCyc Gene:HS09771, ModBase:P13497, NCBI Gene:649, OMIM:112264, RefSeq DNA:NT_167187, RefSeq Protein:NP_001190, RefSeq Protein:NP_006119, RefSeq Protein:NP_006120, RefSeq RNA:NM_001199, RefSeq RNA:NM_006128, RefSeq RNA:NM_006129, RefSeq RNA:NR_033403, RefSeq RNA:NR_033404, UCSC Genome Browser:NM_001199, UniProtKB:P13497 No chr8 22022653 22069839 22165140 22212326 +PA134953092 27302 HGNC:20869 ENSG00000163217 bone morphogenetic protein 10 BMP10 Yes No Comparative Toxicogenomics Database:27302, Ensembl:ENSG00000163217, GeneCard:BMP10, HGNC:HGNC:20869, HumanCyc Gene:HS08807, ModBase:O95393, NCBI Gene:27302, OMIM:608748, RefSeq DNA:NT_022184, RefSeq Protein:NP_055297, RefSeq RNA:NM_014482, UniProtKB:O95393 No chr2 69092613 69098649 68865481 68871517 +PA25378 9210 HGNC:1068 ENSG00000130385 bone morphogenetic protein 15 BMP15 GDF9B Yes No Comparative Toxicogenomics Database:9210, Ensembl:ENSG00000130385, GenAtlas:BMP15, GeneCard:BMP15, HGNC:HGNC:1068, HumanCyc Gene:HS05380, ModBase:O95972, NCBI Gene:9210, OMIM:300247, OMIM:300510, RefSeq DNA:NG_012894, RefSeq DNA:NT_011638, RefSeq Protein:NP_005439, RefSeq RNA:NM_005448, UCSC Genome Browser:NM_005448, UniProtKB:O95972 No chrX 50653735 50659641 50910735 50916641 +PA25379 650 HGNC:1069 ENSG00000125845 bone morphogenetic protein 2 BMP2 BMP2A Yes No Comparative Toxicogenomics Database:650, Ensembl:ENSG00000125845, GenAtlas:BMP2, GeneCard:BMP2, HGNC:HGNC:1069, HumanCyc Gene:HS04953, ModBase:P12643, NCBI Gene:650, OMIM:112261, OMIM:235200, RefSeq DNA:NG_023233, RefSeq DNA:NT_011387, RefSeq Protein:NP_001191, RefSeq RNA:NM_001200, UCSC Genome Browser:NM_001200, UniProtKB:C8C060, UniProtKB:P12643 No chr20 6748745 6760910 6767700 6780280 +PA134992822 55589 HGNC:18041 ENSG00000138756 BMP2 inducible kinase BMP2K BIKe, DKFZp434K0614 Yes No Comparative Toxicogenomics Database:55589, Ensembl:ENSG00000138756, GeneCard:BMP2K, HGNC:HGNC:18041, ModBase:Q9NSY1, NCBI Gene:55589, RefSeq DNA:NT_016354, RefSeq Protein:NP_060063, RefSeq Protein:NP_942595, RefSeq RNA:NM_017593, RefSeq RNA:NM_198892, UniProtKB:Q4W5H2, UniProtKB:Q9NSY1 No chr4 79697532 79837519 78776378 78916365 +PA134971572 347359 HGNC:17080 ENSG00000204113 BMP2 inducible kinase-like BMP2KL Yes No Ensembl:ENSG00000204113, GeneCard:BMP2KL, HGNC:HGNC:17080, ModBase:Q5H9B9, NCBI Gene:347359, RefSeq DNA:NG_009518, RefSeq DNA:NT_011669 No chrX 73405760 73407143 74185927 74187308 +PA25380 651 HGNC:1070 ENSG00000152785 bone morphogenetic protein 3 BMP3 osteogenin Yes No Comparative Toxicogenomics Database:651, Ensembl:ENSG00000152785, GenAtlas:BMP3, GeneCard:BMP3, HGNC:HGNC:1070, HumanCyc Gene:HS07853, ModBase:P12645, NCBI Gene:651, OMIM:112263, RefSeq DNA:NT_016354, RefSeq Protein:NP_001192, RefSeq RNA:NM_001201, UCSC Genome Browser:NM_001201, UniProtKB:P12645 No chr4 81952119 81978685 81030778 81057531 +PA25381 652 HGNC:1071 ENSG00000125378 bone morphogenetic protein 4 BMP4 BMP2B Yes No Comparative Toxicogenomics Database:652, Ensembl:ENSG00000125378, GenAtlas:BMP4, GeneCard:BMP4, HGNC:HGNC:1071, HumanCyc Gene:HS04878, ModBase:P12644, NCBI Gene:652, OMIM:112262, OMIM:600625, OMIM:607932, RefSeq DNA:NG_009215, RefSeq DNA:NT_026437, RefSeq Protein:NP_001193, RefSeq Protein:NP_570911, RefSeq Protein:NP_570912, RefSeq RNA:NM_001202, RefSeq RNA:NM_130850, RefSeq RNA:NM_130851, UCSC Genome Browser:NM_001202, UniProtKB:P12644, UniProtKB:Q53XC5 No chr14 54416454 54423554 53949736 53956862 +PA25382 653 HGNC:1072 ENSG00000112175 bone morphogenetic protein 5 BMP5 Yes Yes Comparative Toxicogenomics Database:653, Ensembl:ENSG00000112175, GenAtlas:BMP5, GeneCard:BMP5, HGNC:HGNC:1072, HumanCyc Gene:HS03527, ModBase:P22003, NCBI Gene:653, OMIM:112265, RefSeq DNA:NT_007592, RefSeq Protein:NP_066551, RefSeq RNA:NM_021073, UCSC Genome Browser:NM_021073, UniProtKB:P22003 No chr6 55618451 55740388 55753653 55875625 +PA25383 654 HGNC:1073 ENSG00000153162 bone morphogenetic protein 6 BMP6 VGR, VGR1 Yes No Comparative Toxicogenomics Database:654, Ensembl:ENSG00000153162, GenAtlas:BMP6, GeneCard:BMP6, HGNC:HGNC:1073, HumanCyc Gene:HS07887, ModBase:P22004, NCBI Gene:654, OMIM:112266, RefSeq DNA:NT_007592, RefSeq Protein:NP_001709, RefSeq RNA:NM_001718, UCSC Genome Browser:NM_001718, UniProtKB:P22004, UniProtKB:Q4VBA3 No chr6 7727011 7881972 7726778 7881728 +PA134931095 266700 HGNC:19329 ENSG00000236323 bone morphogenetic protein 6 pseudogene 1 BMP6P1 Yes No Ensembl:ENSG00000236323, GeneCard:BMP6P1, HGNC:HGNC:19329, NCBI Gene:266700, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22539860 22541506 22185470 22187116 +PA25384 655 HGNC:1074 ENSG00000101144 bone morphogenetic protein 7 BMP7 osteogenic protein 1 OP-1 Yes Yes Comparative Toxicogenomics Database:655, Ensembl:ENSG00000101144, GenAtlas:BMP7, GeneCard:BMP7, HGNC:HGNC:1074, HumanCyc Gene:HS02200, ModBase:P18075, NCBI Gene:655, OMIM:112267, RefSeq DNA:NT_011362, RefSeq Protein:NP_001710, RefSeq RNA:NM_001719, UCSC Genome Browser:NM_001719, UniProtKB:A8K571, UniProtKB:P18075 No chr20 55743809 55841707 57168753 57266651 +PA134894231 353500 HGNC:21650 ENSG00000183682 bone morphogenetic protein 8a BMP8A OP-2, Op2 Yes No Comparative Toxicogenomics Database:353500, Ensembl:ENSG00000183682, GeneCard:BMP8A, HGNC:HGNC:21650, ModBase:Q7Z5Y6, NCBI Gene:353500, RefSeq DNA:NT_032977, RefSeq Protein:NP_861525, RefSeq RNA:NM_181809, UniProtKB:Q7Z5Y6 No chr1 39957318 39995541 39491626 39529869 +PA25385 656 HGNC:1075 ENSG00000116985 bone morphogenetic protein 8b BMP8B osteogenic protein 2 BMP8, OP-2 Yes No Comparative Toxicogenomics Database:656, Ensembl:ENSG00000116985, GenAtlas:BMP8B, GeneCard:BMP8B, HGNC:HGNC:1075, HumanCyc Gene:HS04077, ModBase:P34820, NCBI Gene:656, OMIM:602284, RefSeq DNA:NT_032977, RefSeq Protein:NP_001711, RefSeq RNA:NM_001720, UCSC Genome Browser:NM_001720, UniProtKB:P34820 No chr1 40223903 40254533 39757182 39788861 +PA142672557 168667 HGNC:24154 ENSG00000164619 BMP binding endothelial regulator BMPER crossveinless-2 CRIM3, Cv2 Yes No Comparative Toxicogenomics Database:168667, Ensembl:ENSG00000164619, GeneCard:BMPER, HGNC:HGNC:24154, ModBase:Q8N8U9, NCBI Gene:168667, OMIM:608699, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_597725, RefSeq RNA:NM_133468, UniProtKB:Q8N8U9 No chr7 33944523 34195484 33904911 34155872 +PA25386 657 HGNC:1076 ENSG00000107779 bone morphogenetic protein receptor type 1A BMPR1A bone morphogenetic protein receptor, type IA ACVRLK3, ALK3, CD292 Yes No Comparative Toxicogenomics Database:657, Ensembl:ENSG00000107779, GenAtlas:BMPR1A, GeneCard:BMPR1A, HGNC:HGNC:1076, HumanCyc Gene:HS03024, ModBase:P36894, NCBI Gene:657, OMIM:158350, OMIM:174900, OMIM:601299, OMIM:610069, OMIM:612242, RefSeq DNA:NG_009362, RefSeq DNA:NT_030059, RefSeq Protein:NP_004320, RefSeq RNA:NM_004329, UCSC Genome Browser:NM_004329, UniProtKB:P36894 No chr10 88516396 88684945 86755786 86927969 +PA25387 658 HGNC:1077 ENSG00000138696 bone morphogenetic protein receptor type 1B BMPR1B bone morphogenetic protein receptor, type IB ALK6, CDw293 Yes No Comparative Toxicogenomics Database:658, Ensembl:ENSG00000138696, GenAtlas:BMPR1B, GeneCard:BMPR1B, HGNC:HGNC:1077, HumanCyc Gene:HS06538, ModBase:O00238, NCBI Gene:658, OMIM:112600, OMIM:603248, OMIM:609441, RefSeq DNA:NG_009245, RefSeq DNA:NT_016354, RefSeq Protein:NP_001194, RefSeq RNA:NM_001203, UCSC Genome Browser:NM_001203, UniProtKB:O00238 No chr4 95679128 96079601 94757977 95158453 +PA25388 659 HGNC:1078 ENSG00000204217 bone morphogenetic protein receptor type 2 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) BMPR-II, BMPR3, BRK-3, PPH1, T-ALK Yes No Comparative Toxicogenomics Database:659, Ensembl:ENSG00000204217, GenAtlas:BMPR2, GeneCard:BMPR2, HGNC:HGNC:1078, HumanCyc Gene:HS00791, ModBase:Q13873, NCBI Gene:659, OMIM:178600, OMIM:265450, OMIM:600799, RefSeq DNA:NG_009363, RefSeq DNA:NT_005403, RefSeq Protein:NP_001195, RefSeq RNA:NM_001204, UCSC Genome Browser:NM_001204, UniProtKB:Q13873 No chr2 203241033 203432474 202376310 202567751 +PA162377556 9790 HGNC:23505 ENSG00000165733 BMS1 ribosome biogenesis factor BMS1 """BMS1 ribosome biogenesis factor"", ""BMS1, ribosome biogenesis factor""" BMS1L, KIAA0187 Yes No Ensembl:ENSG00000165733, GeneCard:BMS1, HGNC:HGNC:23505, HumanCyc Gene:HS09278, ModBase:Q14692, NCBI Gene:9790, OMIM:611448, RefSeq DNA:NT_033985, RefSeq Protein:NP_055568, RefSeq RNA:NM_014753, UniProtKB:Q14692 No chr10 43277954 43330385 42782506 42834937 +PA134963975 642826 HGNC:23650 ENSG00000251079 BMS1 pseudogene 2 BMS1P2 BMS1LP6, OTTHUMG00000018113, bA144G6.1 Yes No Ensembl:ENSG00000251079, HGNC:HGNC:23650, NCBI Gene:642826 No chr10 48185839 48203788 47535574 47553523 +PA134911090 414217 HGNC:23651 ENSG00000240089 BMS1 pseudogene 3 BMS1P3 OTTHUMG00000018662, bA96C23.1 Yes No Ensembl:ENSG00000240089, HGNC:HGNC:23651, NCBI Gene:414217 No chr10 88752010 88760192 86992245 87000435 +PA25389 660 HGNC:1079 ENSG00000102010 BMX non-receptor tyrosine kinase BMX BTK-like on X chromosome ETK, PSCTK3 Yes No Ensembl:ENSG00000102010, GenAtlas:BMX, GeneCard:BMX, HGNC:HGNC:1079, HumanCyc Gene:HS02334, ModBase:P51813, NCBI Gene:660, OMIM:300101, RefSeq DNA:NG_013227, RefSeq DNA:NT_167197, RefSeq Protein:NP_001712, RefSeq Protein:NP_975010, RefSeq RNA:NM_001721, RefSeq RNA:NM_203281, UCSC Genome Browser:NM_001721, UniProtKB:P51813 No chrX 15482356 15574652 15500777 15556529 +PA25391 646 HGNC:1081 ENSG00000169594 basonuclin zinc finger protein 1 BNC1 basonuclin 1 BNC, BSN1, HsT19447, bn1 Yes No Ensembl:ENSG00000169594, GenAtlas:BNC1, GeneCard:BNC1, HGNC:HGNC:1081, HumanCyc Gene:HS09973, ModBase:Q01954, NCBI Gene:646, OMIM:601930, RefSeq DNA:NT_077661, RefSeq Protein:NP_001708, RefSeq RNA:NM_001717, UCSC Genome Browser:NM_001717, UniProtKB:Q01954 No chr15 83924655 83953468 83255884 83284716 +PA134953132 54796 HGNC:30988 ENSG00000173068 basonuclin zinc finger protein 2 BNC2 basonuclin 2 BSN2, FLJ20043, bn2 Yes No Ensembl:ENSG00000173068, GeneCard:BNC2, HGNC:HGNC:30988, HumanCyc Gene:HS10613, ModBase:Q6ZN30, NCBI Gene:54796, OMIM:608669, RefSeq DNA:NT_008413, RefSeq Protein:NP_060107, RefSeq RNA:NM_017637, UniProtKB:Q6ZN30 No chr9 16409501 16870786 16409503 16870838 +PA25392 662 HGNC:1082 ENSG00000113734 BCL2 interacting protein 1 BNIP1 BCL2/adenovirus E1B 19kDa interacting protein 1 Nip1, SEC20 Yes No Comparative Toxicogenomics Database:662, Ensembl:ENSG00000113734, GenAtlas:BNIP1, GeneCard:BNIP1, HGNC:HGNC:1082, HumanCyc Gene:HS03713, ModBase:Q12981, NCBI Gene:662, OMIM:603291, RefSeq DNA:NT_023133, RefSeq Protein:NP_001196, RefSeq Protein:NP_053581, RefSeq Protein:NP_053582, RefSeq Protein:NP_053583, RefSeq RNA:NM_001205, RefSeq RNA:NM_013978, RefSeq RNA:NM_013979, RefSeq RNA:NM_013980, UCSC Genome Browser:NM_001205, UniProtKB:Q12981 No chr5 172571445 172591390 173144442 173164387 +PA25393 663 HGNC:1083 ENSG00000140299 BCL2 interacting protein 2 BNIP2 BCL2/adenovirus E1B 19kDa interacting protein 2 BNIP-2, Nip2 Yes No Comparative Toxicogenomics Database:663, Ensembl:ENSG00000140299, GenAtlas:BNIP2, GeneCard:BNIP2, HGNC:HGNC:1083, HumanCyc Gene:HS06699, ModBase:Q12982, NCBI Gene:663, OMIM:603292, RefSeq DNA:NT_010194, RefSeq Protein:NP_004321, RefSeq RNA:NM_004330, UCSC Genome Browser:NM_004330, UniProtKB:Q12982 No chr15 59951345 59981728 59659146 59689534 +PA25394 664 HGNC:1084 ENSG00000176171 BCL2 interacting protein 3 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3, Hypoxia-Activated BNIP3 Overlapping Non-coding RNA, nineteen kD interacting protein-3 HABON, Nip3 Yes No Comparative Toxicogenomics Database:664, Ensembl:ENSG00000176171, GenAtlas:BNIP3, GeneCard:BNIP3, HGNC:HGNC:1084, NCBI Gene:664, OMIM:603293, RefSeq DNA:NT_008818, RefSeq Protein:NP_004043, RefSeq RNA:NM_004052, UCSC Genome Browser:NM_004052, UniProtKB:Q12983 No chr10 133781204 133795435 131967683 131982013 +PA25395 665 HGNC:1085 ENSG00000104765 BCL2 interacting protein 3 like BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like, NIP-3-like protein X BNIP3a, Nix Yes No Comparative Toxicogenomics Database:665, Ensembl:ENSG00000104765, GenAtlas:BNIP3L, GeneCard:BNIP3L, HGNC:HGNC:1085, HumanCyc Gene:HS02615, ModBase:O60238, NCBI Gene:665, OMIM:605368, RefSeq DNA:NT_167187, RefSeq Protein:NP_004322, RefSeq RNA:NM_004331, UCSC Genome Browser:NM_004331, UniProtKB:O60238, UniProtKB:Q6IBV1 No chr8 26239894 26270644 26383007 26413128 +PA134985848 319138 HGNC:19922 ENSG00000197358 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1 BNIP3P1 Yes No Ensembl:ENSG00000197358, GeneCard:BNIP3P1, HGNC:HGNC:19922, NCBI Gene:319138, RefSeq DNA:NG_002516, RefSeq DNA:NT_026437 No chr14 28733635 28735166 28264410 28265974 +PA166352184 389384 HGNC:33769 BCL2 interacting protein 5 BNIP5 C6orf222, DKFZp779B1540 Yes No HGNC:HGNC:33769, NCBI Gene:389384 No 0 0 0 0 +PA38196 149428 HGNC:16976 ENSG00000163141 BCL2 interacting protein like BNIPL BCL2/adenovirus E1B 19kD interacting protein like BNIP-S, BNIP-Salpha, BNIP-Sbeta, BNIPL-2, BNIPl-1, PP753 Yes No Ensembl:ENSG00000163141, GenAtlas:BNIPL, GeneCard:BNIPL, HGNC:HGNC:16976, HumanCyc Gene:HS15031, ModBase:Q7Z465, NCBI Gene:149428, OMIM:611275, RefSeq DNA:NT_004487, RefSeq Protein:NP_001153114, RefSeq Protein:NP_612122, RefSeq RNA:NM_001159642, RefSeq RNA:NM_138278, UniProtKB:Q7Z465 No chr1 151009029 151020076 151036553 151047600 +PA143485316 91653 HGNC:17173 ENSG00000144857 BOC cell adhesion associated, oncogene regulated BOC """brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2""" Boi, CDON2 Yes No Comparative Toxicogenomics Database:91653, Ensembl:ENSG00000144857, GeneCard:BOC, HGNC:HGNC:17173, HumanCyc Gene:HS07213, ModBase:Q9BWV1, NCBI Gene:91653, OMIM:608708, RefSeq DNA:NT_005612, RefSeq Protein:NP_150279, RefSeq RNA:NM_033254, UniProtKB:Q96DN7, UniProtKB:Q9BWV1 No chr3 112929850 113006306 113211003 113287463 +PA164716651 91272 HGNC:25114 ENSG00000145919 biorientation of chromosomes in cell division 1 BOD1 biorientation defective 1 FAM44B Yes No Ensembl:ENSG00000145919, GeneCard:BOD1, HGNC:HGNC:25114, NCBI Gene:91272, RefSeq DNA:NT_023133, RefSeq Protein:NP_001153123, RefSeq Protein:NP_612378, RefSeq RNA:NM_001159651, RefSeq RNA:NM_138369, UniProtKB:Q96IK1 No chr5 173034148 173043706 173607145 173617077 +PA164716652 259282 HGNC:31792 ENSG00000038219 biorientation of chromosomes in cell division 1 like 1 BOD1L1 biorientation of chromosomes in cell division 1-like 1 BOD1L, FAM44A, FLJ33215, KIAA1327 Yes No Ensembl:ENSG00000038219, GeneCard:BOD1L, HGNC:HGNC:31792, NCBI Gene:259282, RefSeq DNA:NT_006316, RefSeq Protein:NP_683692, RefSeq RNA:NM_148894, UniProtKB:Q8NFC6 No chr4 13570362 13629334 13568738 13627721 +PA166048984 284257 HGNC:28505 ENSG00000228075 biorientation of chromosomes in cell division 1 like 2 BOD1L2 biorientation of chromosomes in cell division 1-like 2 BOD1P, FAM44C, MGC33608 Yes No Ensembl:ENSG00000228075, HGNC:HGNC:28505, NCBI Gene:284257, RefSeq DNA:NT_025028, RefSeq RNA:NR_033372, UniProtKB:Q8IYS8 No chr18 54814293 54817639 57147062 57150408 +PA25396 666 HGNC:1087 ENSG00000176720 BCL2 family apoptosis regulator BOK BOK BCL2-related ovarian killer BCL2L9, BOKL, MGC4631 Yes No Comparative Toxicogenomics Database:666, Ensembl:ENSG00000176720, GenAtlas:BOK, GeneCard:BOK, HGNC:HGNC:1087, HumanCyc Gene:HS11076, ModBase:Q9UMX3, NCBI Gene:666, OMIM:605404, RefSeq DNA:NT_005416, RefSeq Protein:NP_115904, RefSeq RNA:NM_032515, UCSC Genome Browser:NM_032515, UniProtKB:Q9UMX3 No chr2 242498146 242513553 241558731 241574138 +PA165696337 100379249 HGNC:35125 ENSG00000234235 BOK antisense RNA 1 BOK-AS1 non-protein coding RNA 151 NAToB, NCRNA00151 Yes No Ensembl:ENSG00000234235, GeneCard:BOK-AS1, HGNC:HGNC:35125, NCBI Gene:100379249, RefSeq RNA:NR_033346 No chr2 242483799 242498558 241544384 241559143 +PA142672552 51027 HGNC:24263 ENSG00000178096 bolA family member 1 BOLA1 bolA homolog 1 (E. coli) CGI-143 Yes No Comparative Toxicogenomics Database:51027, Ensembl:ENSG00000178096, GeneCard:BOLA1, HGNC:HGNC:24263, HumanCyc Gene:HS11249, ModBase:Q9Y3E2, NCBI Gene:51027, OMIM:613181, RefSeq DNA:NT_004487, RefSeq Protein:NP_057158, RefSeq RNA:NM_016074, UniProtKB:Q9Y3E2 No chr1 149871110 149872348 149899582 149900795 +PA142672553 552900 HGNC:29488 ENSG00000169627, ENSG00000183336 bolA family member 2 BOLA2 bolA homolog 2 (E. coli) BOLA2A, My016 Yes No Comparative Toxicogenomics Database:552900, Ensembl:ENSG00000169627, Ensembl:ENSG00000183336, GeneCard:BOLA2, HGNC:HGNC:29488, NCBI Gene:552900, OMIM:613182, RefSeq DNA:NG_005304, RefSeq DNA:NT_010393, RefSeq Protein:NP_001026997, RefSeq RNA:NM_001031827 No chr16 29452601 29466285 29453588 29454964 +PA143485317 654483 HGNC:32479 ENSG00000169627, ENSG00000183336 bolA family member 2B BOLA2B bolA homolog 2B (E. coli) Yes No Ensembl:ENSG00000169627, Ensembl:ENSG00000183336, GeneCard:BOLA2B, HGNC:HGNC:32479, NCBI Gene:654483, RefSeq DNA:NG_005305, RefSeq DNA:NT_010393, RefSeq Protein:NP_001034271, RefSeq RNA:NM_001039182, UniProtKB:Q9H3K6 No chr16 30204256 30205627 30192930 30194306 +PA142672554 388962 HGNC:24415 ENSG00000163170 bolA family member 3 BOLA3 bolA homolog 3 (E. coli) Yes No Ensembl:ENSG00000163170, GeneCard:BOLA3, HGNC:HGNC:24415, ModBase:Q53S33, NCBI Gene:388962, OMIM:613183, RefSeq DNA:NT_022184, RefSeq Protein:NP_001030582, RefSeq Protein:NP_997717, RefSeq RNA:NM_001035505, RefSeq RNA:NM_212552, UniProtKB:Q53S33, UniProtKB:Q8N338 No chr2 74362528 74375039 74135401 74147912 +PA25397 66037 HGNC:14273 ENSG00000152430 boule homolog, RNA binding protein BOLL """bol, boule-like (Drosophila)"", ""boule-like RNA-binding protein""" BOULE Yes No Comparative Toxicogenomics Database:66037, Ensembl:ENSG00000152430, GenAtlas:BOLL, GeneCard:BOLL, HGNC:HGNC:14273, HumanCyc Gene:HS07814, ModBase:Q8N9W6, NCBI Gene:66037, OMIM:606165, RefSeq DNA:NT_005403, RefSeq Protein:NP_149019, RefSeq Protein:NP_932074, RefSeq RNA:NM_033030, RefSeq RNA:NM_197970, UCSC Genome Browser:NM_033030, UniProtKB:Q8N9W6 No chr2 198591603 198651036 197726879 197786574 +PA25398 23246 HGNC:15519 ENSG00000261236 BOP1 ribosomal biogenesis factor BOP1 block of proliferation 1 KIAA0124 Yes No Comparative Toxicogenomics Database:23246, Ensembl:ENSG00000261236, GenAtlas:BOP1, GeneCard:BOP1, HGNC:HGNC:15519, HumanCyc Gene:HS10170, ModBase:Q14137, NCBI Gene:23246, OMIM:610596, RefSeq DNA:NT_037704, RefSeq Protein:NP_056016, RefSeq RNA:NM_015201, UCSC Genome Browser:NM_015201, UniProtKB:Q14137 No chr8 145486056 145515120 144262046 144291438 +PA162378045 79866 HGNC:24724 ENSG00000136122 BORA aurora kinase A activator BORA bora, aurora kinase A activator C13orf34, FLJ22624 Yes No Ensembl:ENSG00000136122, GeneCard:C13orf34, HGNC:HGNC:24724, HumanCyc Gene:HS13615, ModBase:Q6PGQ7, NCBI Gene:79866, OMIM:610510, RefSeq DNA:NT_024524, RefSeq Protein:NP_079084, RefSeq RNA:NM_024808, UniProtKB:Q6PGQ7 No chr13 73301981 73330328 72727739 72756198 +PA30421 118426 HGNC:17950 ENSG00000165714 BLOC-1 related complex subunit 5 BORCS5 """loss of heterozygosity, 12, chromosomal region 1"", ""myrlysin""" LOH12CR1, LOH1CR12 Yes No Comparative Toxicogenomics Database:118426, Ensembl:ENSG00000165714, GenAtlas:LOH12CR1, GeneCard:LOH12CR1, HGNC:HGNC:17950, HumanCyc Gene:HS15357, ModBase:Q969J3, NCBI Gene:118426, RefSeq DNA:NT_009714, RefSeq Protein:NP_477517, RefSeq RNA:NM_058169, UCSC Genome Browser:NM_058169, UniProtKB:Q969J3 No chr12 12509967 12637587 12357078 12469562 +PA142672242 54785 HGNC:25939 ENSG00000196544 BLOC-1 related complex subunit 6 BORCS6 chromosome 17 open reading frame 59, lyspersin C17orf59, FLJ20014 Yes No Ensembl:ENSG00000196544, GeneCard:C17orf59, HGNC:HGNC:25939, NCBI Gene:54785, RefSeq DNA:NT_010718, RefSeq Protein:NP_060092, RefSeq RNA:NM_017622, UniProtKB:Q96GS4 No chr17 8091651 8093564 8188333 8190246 +PA134928831 119032 HGNC:23516 ENSG00000166275 BLOC-1 related complex subunit 7 BORCS7 chromosome 10 open reading frame 32, diaskedin C10orf32, FLJ40752 Yes No Ensembl:ENSG00000166275, GeneCard:C10orf32, HGNC:HGNC:23516, HumanCyc Gene:HS15423, NCBI Gene:119032, RefSeq DNA:NT_030059, RefSeq Protein:NP_001129672, RefSeq Protein:NP_653192, RefSeq RNA:NM_001136200, RefSeq RNA:NM_144591, UniProtKB:Q96B45 No chr10 104613967 104624718 102854210 102864961 +PA166049028 729991 HGNC:37247 ENSG00000254901 BLOC-1 related complex subunit 8 BORCS8 MEF2B neighbor MEF2BNB Yes No Ensembl:ENSG00000254901, HGNC:HGNC:37247, NCBI Gene:729991 No chr19 19287713 19303400 19176904 19192591 +PA25400 60467 HGNC:13228 ENSG00000232416 blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding) BPESC1 non-protein coding RNA 187 NCRNA00187 Yes No Ensembl:ENSG00000232416, GenAtlas:BPESC1, GeneCard:BPESC1, HGNC:HGNC:13228, NCBI Gene:60467, RefSeq DNA:NT_005612, RefSeq RNA:NR_026783, UCSC Genome Browser:NM_021812 No chr3 138823027 138844009 139104185 139125167 +PA25401 669 HGNC:1093 ENSG00000172331 bisphosphoglycerate mutase BPGM 2,3-bisphosphoglycerate mutase Yes No Comparative Toxicogenomics Database:669, Ensembl:ENSG00000172331, GenAtlas:BPGM, GeneCard:BPGM, HGNC:HGNC:1093, HumanCyc Gene:HS10491, ModBase:P07738, NCBI Gene:669, OMIM:222800, RefSeq DNA:NG_012921, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001715, RefSeq Protein:NP_954655, RefSeq RNA:NM_001724, RefSeq RNA:NM_199186, UCSC Genome Browser:NM_001724, UniProtKB:A4D1N9, UniProtKB:P07738 No chr7 134331531 134364568 134646779 134679816 +PA25402 670 HGNC:1094 ENSG00000137274 biphenyl hydrolase like BPHL biphenyl hydrolase-like (serine hydrolase), breast epithelial mucin-associated antigen, valacyclovir hydrolase Bph-rp, MCNAA, VACVase Yes Yes Comparative Toxicogenomics Database:670, Ensembl:ENSG00000137274, GenAtlas:BPHL, GeneCard:BPHL, HGNC:HGNC:1094, HumanCyc Gene:HS06303, ModBase:Q86WA6, NCBI Gene:670, OMIM:603156, RefSeq DNA:NT_007592, RefSeq Protein:NP_004323, RefSeq RNA:NM_004332, RefSeq RNA:NR_026648, RefSeq RNA:NR_026649, RefSeq RNA:NR_026650, UCSC Genome Browser:NM_004332, UniProtKB:Q86WA6 No chr6 3118926 3153833 3118376 3153198 +PA25403 671 HGNC:1095 ENSG00000101425 bactericidal permeability increasing protein BPI """BPI fold containing family D, member 1"", ""bactericidal/permeability-increasing protein""" BPIFD1 Yes No Comparative Toxicogenomics Database:671, Ensembl:ENSG00000101425, GenAtlas:BPI, GeneCard:BPI, HGNC:HGNC:1095, HumanCyc Gene:HS02265, ModBase:Q9UD65, NCBI Gene:671, OMIM:109195, RefSeq DNA:NT_011362, RefSeq Protein:NP_001716, RefSeq RNA:NM_001725, UCSC Genome Browser:NM_001725, UniProtKB:P17213 No chr20 36932552 36965907 38304150 38337503 +PA33423 51297 HGNC:15749 ENSG00000198183 BPI fold containing family A member 1 BPIFA1 BPI fold containing family A, member 1 LUNX, PLUNC, SPLUNC1, bA49G10.5 Yes No Comparative Toxicogenomics Database:51297, Ensembl:ENSG00000198183, GenAtlas:PLUNC, GeneCard:PLUNC, HGNC:HGNC:15749, ModBase:Q9NP55, NCBI Gene:51297, OMIM:607412, RefSeq DNA:NT_011362, RefSeq Protein:NP_057667, RefSeq Protein:NP_570913, RefSeq RNA:NM_016583, RefSeq RNA:NM_130852, UCSC Genome Browser:NM_016583, UniProtKB:Q9NP55 No chr20 31823802 31831115 33235996 33243309 +PA25781 140683 HGNC:16203 ENSG00000131050 BPI fold containing family A member 2 BPIFA2 BPI fold containing family A, member 2 C20orf70, PSP, SPLUNC2, bA49G10.1 Yes No Comparative Toxicogenomics Database:140683, Ensembl:ENSG00000131050, GenAtlas:C20orf70, GeneCard:C20orf70, HGNC:HGNC:16203, HumanCyc Gene:HS13368, ModBase:Q96DR5, NCBI Gene:140683, RefSeq DNA:NT_011362, RefSeq Protein:NP_542141, RefSeq RNA:NM_080574, UniProtKB:Q96DR5 No chr20 31749660 31769223 33161848 33181417 +PA25782 128861 HGNC:16204 ENSG00000131059 BPI fold containing family A member 3 BPIFA3 BPI fold containing family A, member 3 C20orf71, SPLUNC3, bA49G10.4 Yes No Ensembl:ENSG00000131059, GenAtlas:C20orf71, GeneCard:C20orf71, HGNC:HGNC:16204, ModBase:Q9BQP9, NCBI Gene:128861, RefSeq DNA:NT_011362, RefSeq Protein:NP_001035904, RefSeq Protein:NP_848561, RefSeq RNA:NM_001042439, RefSeq RNA:NM_178466, UCSC Genome Browser:NM_178466, UniProtKB:Q9BQP9 No chr20 31805130 31815612 33217310 33227806 +PA25654 92747 HGNC:16108 ENSG00000125999 BPI fold containing family B member 1 BPIFB1 """BPI fold containing family B, member 1"", ""von Ebner minor salivary gland protein""" C20orf114, LPLUNC1, MGC14597, VEMSGP, bA49G10.6, dJ1187J4.1 Yes No Ensembl:ENSG00000125999, GenAtlas:C20orf114, GeneCard:C20orf114, HGNC:HGNC:16108, HumanCyc Gene:HS04985, ModBase:Q9H4V6, NCBI Gene:92747, RefSeq DNA:NT_011362, RefSeq Protein:NP_149974, RefSeq RNA:NM_033197, UCSC Genome Browser:NM_033197, UniProtKB:Q8TDL5 No chr20 31870941 31897684 33283135 33309878 +PA25404 80341 HGNC:16177 ENSG00000078898 BPI fold containing family B member 2 BPIFB2 BPI fold containing family B, member 2 BPIL1, C20orf184, LPLUNC2, dJ726C3.2 Yes No Ensembl:ENSG00000078898, GenAtlas:BPIL1, GeneCard:BPIL1, HGNC:HGNC:16177, HumanCyc Gene:HS01305, ModBase:Q8N4F0, NCBI Gene:80341, RefSeq DNA:NG_016714, RefSeq DNA:NT_011362, RefSeq Protein:NP_079503, RefSeq RNA:NM_025227, UCSC Genome Browser:NM_025227, UniProtKB:Q6ZME0, UniProtKB:Q8N4F0 No chr20 31595384 31611515 33007578 33023709 +PA25727 359710 HGNC:16178 ENSG00000186190 BPI fold containing family B member 3 BPIFB3 BPI fold containing family B, member 3 C20orf185, LPLUNC3, RYA3, dJ726C3.4 Yes No Ensembl:ENSG00000186190, GenAtlas:C20orf185, GeneCard:C20orf185, HGNC:HGNC:16178, ModBase:P59826, NCBI Gene:359710, RefSeq DNA:NT_011362, RefSeq Protein:NP_872599, RefSeq RNA:NM_182658, UniProtKB:P59826 No chr20 31643230 31661434 33055331 33073637 +PA25728 149954 HGNC:16179 ENSG00000186191 BPI fold containing family B member 4 BPIFB4 BPI fold containing family B, member 4 C20orf186, LPLUNC4, dJ726C3.5 Yes No Ensembl:ENSG00000186191, GenAtlas:C20orf186, GeneCard:C20orf186, HGNC:HGNC:16179, NCBI Gene:149954, RefSeq DNA:NT_011362, RefSeq Protein:NP_872325, RefSeq RNA:NM_182519, UniProtKB:P59827 No chr20 31669318 31699557 33081512 33111751 +PA25406 128859 HGNC:16504 ENSG00000167104 BPI fold containing family B member 6 BPIFB6 BPI fold containing family B, member 6 BPIL3, LPLUNC6 Yes No Ensembl:ENSG00000167104, GenAtlas:BPIL3, GeneCard:BPIL3, HGNC:HGNC:16504, ModBase:Q8NFQ5, NCBI Gene:128859, RefSeq DNA:NT_011362, RefSeq Protein:NP_777557, RefSeq RNA:NM_174897, UCSC Genome Browser:NM_174897, UniProtKB:Q8NFQ5 No chr20 31619454 31631853 33031648 33044108 +PA25655 402016 HGNC:16109 ENSG00000125997 BPI fold containing family B, member 9, pseudogene BPIFB9P dJ1187J4.2 Yes No Ensembl:ENSG00000125997, GenAtlas:C20orf115, GeneCard:BPIFB9P, HGNC:HGNC:16109, NCBI Gene:402016 No chr20 31934926 31942850 33347120 33355044 +PA25405 254240 HGNC:16503 ENSG00000184459 BPI fold containing family C BPIFC BPIL2, dJ149A16.7 Yes No Ensembl:ENSG00000184459, GenAtlas:BPIL2, GeneCard:BPIL2, HGNC:HGNC:16503, ModBase:Q8NFQ6, NCBI Gene:254240, RefSeq DNA:NT_011520, RefSeq Protein:NP_777592, RefSeq RNA:NM_174932, UCSC Genome Browser:NM_174932, UniProtKB:Q8NFQ6 No chr22 32809834 32860429 32413845 32464465 +PA25407 10380 HGNC:1096 ENSG00000162813 3'(2'), 5'-bisphosphate nucleotidase 1 BPNT1 Yes No Comparative Toxicogenomics Database:10380, Ensembl:ENSG00000162813, GenAtlas:BPNT1, GeneCard:BPNT1, HGNC:HGNC:1096, HumanCyc Gene:HS08743, ModBase:O95861, NCBI Gene:10380, OMIM:604053, RefSeq DNA:NT_167186, RefSeq Protein:NP_006076, RefSeq RNA:NM_006085, UCSC Genome Browser:NM_006085, UniProtKB:O95861 No chr1 220230824 220263249 220057482 220089916 +PA166352185 54928 HGNC:26019 3'(2'), 5'-bisphosphate nucleotidase 2 BPNT2 """Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase"", ""golgi-resident nucleotide phosphatase""" FLJ20421, IMPA3, IMPAD1, gPAPP Yes No HGNC:HGNC:26019, NCBI Gene:54928 No 0 0 0 0 +PA162377557 2186 HGNC:3581 ENSG00000171634 bromodomain PHD finger transcription factor BPTF FAC1, FALZ, NURF301 Yes No Ensembl:ENSG00000171634, GeneCard:BPTF, HGNC:HGNC:3581, HumanCyc Gene:HS10359, NCBI Gene:2186, OMIM:601819, RefSeq DNA:NT_010783, RefSeq Protein:NP_004450, RefSeq Protein:NP_872579, RefSeq RNA:NM_004459, RefSeq RNA:NM_182641, UniProtKB:Q12830 No chr17 65821644 65980494 67825517 67984378 +PA37794 9083 HGNC:13508 ENSG00000183753, ENSG00000183795, ENSG00000185894 basic charge Y-linked 2 BPY2 basic charge, Y-linked, 2 BPY2A, VCY2, VCY2A Yes No Ensembl:ENSG00000183753, Ensembl:ENSG00000183795, Ensembl:ENSG00000185894, GenAtlas:BPY2, GeneCard:BPY2, HGNC:HGNC:13508, NCBI Gene:9083, OMIM:400013, RefSeq DNA:NG_004755, RefSeq DNA:NG_009862, RefSeq DNA:NT_011903, RefSeq Protein:NP_004669, RefSeq RNA:NM_004678, UCSC Genome Browser:NM_004678, UniProtKB:O14599 No chrY 25130410 25151612 22984263 23005465 +PA134906625 442867 HGNC:25449 ENSG00000183795 basic charge Y-linked 2B BPY2B basic charge, Y-linked, 2B VCY2B Yes No Ensembl:ENSG00000183795, GeneCard:BPY2B, HGNC:HGNC:25449, NCBI Gene:442867, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_001002760, RefSeq RNA:NM_001002760 No chrY 26764151 26785354 24618004 24639207 +PA134873304 442868 HGNC:18225 ENSG00000185894 basic charge Y-linked 2C BPY2C basic charge, Y-linked, 2C VCY2C Yes No Ensembl:ENSG00000185894, GeneCard:BPY2C, HGNC:HGNC:18225, NCBI Gene:442868, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_001002761, RefSeq RNA:NM_001002761 No chrY 27177048 27198251 25030901 25052104 +PA165791194 100885797 HGNC:38794 ENSG00000229745 basic charge, Y-linked, 2D, pseudogene BPY2DP Yes No Ensembl:ENSG00000229745, HGNC:HGNC:38794, NCBI Gene:100885797 No chrY 7794130 7817040 7926089 7948999 +PA25408 673 HGNC:1097 ENSG00000157764 B-Raf proto-oncogene, serine/threonine kinase BRAF v-raf murine sarcoma viral oncogene homolog B1 BRAF-1, BRAF1 Yes Yes Comparative Toxicogenomics Database:673, Ensembl:ENSG00000157764, GenAtlas:BRAF, GeneCard:BRAF, HGNC:HGNC:1097, HumanCyc Gene:HS08238, ModBase:P15056, NCBI Gene:673, OMIM:115150, OMIM:164757, OMIM:211980, RefSeq DNA:NG_007873, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_004324, RefSeq RNA:NM_004333, UCSC Genome Browser:NM_004333, UniProtKB:P15056 No chr7 140415749 140624564 140719331 140924764 +PA134892214 286494 HGNC:18615 ENSG00000224775 v-raf murine sarcoma viral oncogene homolog B1 pseudogene 1 BRAFP1 BRAF2 Yes No Ensembl:ENSG00000224775, GeneCard:BRAFP1, HGNC:HGNC:18615, NCBI Gene:286494, RefSeq DNA:NG_003108, RefSeq DNA:NT_011669 No chrX 74802489 74805844 75582654 75586009 +PA25410 8315 HGNC:1099 ENSG00000089234 BRCA1 associated protein BRAP galectin-2-binding protein, impedes mitogenic signal propagation BRAP2, IMP, RNF52 Yes No Comparative Toxicogenomics Database:8315, Ensembl:ENSG00000089234, GenAtlas:BRAP, GeneCard:BRAP, HGNC:HGNC:1099, ModBase:Q7Z569, NCBI Gene:8315, OMIM:604986, RefSeq DNA:NT_009775, RefSeq Protein:NP_006759, RefSeq RNA:NM_006768, UCSC Genome Browser:NM_006768, UniProtKB:Q59H81, UniProtKB:Q7Z569 No chr12 112079950 112123790 111642146 111686023 +PA134959439 221927 HGNC:21701 ENSG00000106009 BRCA1 associated ATM activator 1 BRAT1 BRCA1-associated ATM activator 1, BRCA1-associated protein required for ATM activation protein 1 BAAT1, C7orf27, MGC22916 Yes No Ensembl:ENSG00000106009, GeneCard:C7orf27, HGNC:HGNC:21701, HumanCyc Gene:HS12620, NCBI Gene:221927, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_689956, RefSeq RNA:NM_152743, UniProtKB:Q6PJG6 No chr7 2577444 2595392 2537810 2555758 +PA25411 672 HGNC:1100 ENSG00000012048 BRCA1 DNA repair associated BRCA1 """BRCA1, DNA repair associated"", ""BRCA1/BRCA2-containing complex, subunit 1"", ""Fanconi anemia, complementation group S"", ""breast cancer 1, early onset"", ""protein phosphatase 1, regulatory subunit 53""" BRCC1, FANCS, PPP1R53, RNF53 Yes Yes Comparative Toxicogenomics Database:672, Ensembl:ENSG00000012048, GenAtlas:BRCA1, GeneCard:BRCA1, HGNC:HGNC:1100, HumanCyc Gene:HS00326, ModBase:P38398, NCBI Gene:672, OMIM:113705, OMIM:604370, RefSeq DNA:NG_005905, RefSeq DNA:NT_010783, RefSeq Protein:NP_009225, RefSeq Protein:NP_009226, RefSeq Protein:NP_009227, RefSeq Protein:NP_009228, RefSeq Protein:NP_009229, RefSeq Protein:NP_009230, RefSeq Protein:NP_009231, RefSeq Protein:NP_009233, RefSeq Protein:NP_009234, RefSeq Protein:NP_009235, RefSeq Protein:NP_009236, RefSeq RNA:NM_001407571, RefSeq RNA:NM_007294, RefSeq RNA:NM_007295, RefSeq RNA:NM_007296, RefSeq RNA:NM_007297, RefSeq RNA:NM_007298, RefSeq RNA:NM_007299, RefSeq RNA:NM_007300, RefSeq RNA:NM_007302, RefSeq RNA:NM_007303, RefSeq RNA:NM_007304, RefSeq RNA:NM_007305, UCSC Genome Browser:NM_007294, UniProtKB:P38398, UniProtKB:Q1RMC1, UniProtKB:Q3LRJ6, UniProtKB:Q6IN79 No chr17 41196312 41277500 43044295 43125483 +PA142672549 394269 HGNC:28470 ENSG00000267595 BRCA1 pseudogene 1 BRCA1P1 like-BRCA1 LBRCA1, PsiBRCA1, pseudo-BRCA1 Yes No Ensembl:ENSG00000267595, GeneCard:BRCA1P1, HGNC:HGNC:28470, NCBI Gene:394269, RefSeq DNA:NG_003183, RefSeq DNA:NT_010783 No chr17 41320087 41321971 43168070 43169954 +PA25412 675 HGNC:1101 ENSG00000139618 BRCA2 DNA repair associated BRCA2 """BRCA1/BRCA2-containing complex, subunit 2"", ""BRCA2, DNA repair associated"", ""breast cancer 2, early onset""" BRCC2, FACD, FAD, FAD1, FANCD, FANCD1, XRCC11 Yes No Comparative Toxicogenomics Database:675, Ensembl:ENSG00000139618, GenAtlas:BRCA2, GeneCard:BRCA2, HGNC:HGNC:1101, HumanCyc Gene:HS06637, ModBase:P51587, NCBI Gene:675, OMIM:114480, OMIM:137800, OMIM:155255, OMIM:176807, OMIM:194070, OMIM:260350, OMIM:600185, OMIM:605724, OMIM:612555, OMIM:613029, OMIM:613347, RefSeq DNA:NG_012772, RefSeq DNA:NT_024524, RefSeq Protein:NP_000050, RefSeq RNA:NM_000059, UCSC Genome Browser:NM_000059, UniProtKB:P51587 No chr13 32889617 32973809 32315480 32399672 +PA134922847 79184 HGNC:24185 ENSG00000185515 BRCA1/BRCA2-containing complex subunit 3 BRCC3 """BRCA1/BRCA2-containing complex, subunit 3"", ""Lys-63-specific deubiquitinase""" BRCC36, C6.1A, CXorf53 Yes No Comparative Toxicogenomics Database:79184, Ensembl:ENSG00000185515, GeneCard:BRCC3, HGNC:HGNC:24185, HumanCyc Gene:HS09283, ModBase:P46736, NCBI Gene:79184, OMIM:300617, RefSeq DNA:NG_005114, RefSeq DNA:NT_167198, RefSeq Protein:NP_001018065, RefSeq Protein:NP_001229569, RefSeq Protein:NP_077308, RefSeq RNA:NM_001018055, RefSeq RNA:NM_001242640, RefSeq RNA:NM_024332, UniProtKB:P46736 No chrX 154299695 154351349 155071403 155126766 +PA25413 23774 HGNC:1102 ENSG00000100425 bromodomain containing 1 BRD1 BR140-like BRL, BRPF2 Yes No Comparative Toxicogenomics Database:23774, Ensembl:ENSG00000100425, GenAtlas:BRD1, GeneCard:BRD1, HGNC:HGNC:1102, HumanCyc Gene:HS02081, ModBase:O95696, NCBI Gene:23774, OMIM:604589, RefSeq DNA:NT_011520, RefSeq Protein:NP_055392, RefSeq RNA:NM_014577, UCSC Genome Browser:NM_014577, UniProtKB:O95696 No chr22 50166931 50221196 49773278 49827927 +PA134907262 158358 HGNC:23378 ENSG00000183354 bromodomain containing 10 BRD10 FLJ20375, KIAA2026 Yes Yes Ensembl:ENSG00000183354, GeneCard:KIAA2026, HGNC:HGNC:23378, ModBase:Q5HYC2, NCBI Gene:158358, RefSeq DNA:NT_008413, RefSeq Protein:NP_001017969, RefSeq RNA:NM_001017969, UniProtKB:Q5HYC2 No chr9 5919008 6008479 5860254 6008479 +PA25414 6046 HGNC:1103 ENSG00000204256, ENSG00000215077, ENSG00000234507, ENSG00000235307 bromodomain containing 2 BRD2 female sterile homeotic related gene 1, really interesting new gene 3 BRD2-IT1, D6S113E, FSHRG1, FSRG1, KIAA9001, NAT, RING3 Yes Yes Comparative Toxicogenomics Database:6046, Ensembl:ENSG00000204256, Ensembl:ENSG00000215077, Ensembl:ENSG00000234507, Ensembl:ENSG00000235307, GenAtlas:BRD2, GeneCard:BRD2, HGNC:HGNC:1103, HumanCyc Gene:HS03584, ModBase:P25440, NCBI Gene:6046, OMIM:601540, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001106653, RefSeq Protein:NP_001186384, RefSeq Protein:NP_001186385, RefSeq Protein:NP_005095, RefSeq RNA:NM_001113182, RefSeq RNA:NM_001199455, RefSeq RNA:NM_001199456, RefSeq RNA:NM_005104, RefSeq RNA:NR_037625, UCSC Genome Browser:NM_005104, UniProtKB:P25440, UniProtKB:Q658Y7 No chr6 32936437 32949282 32968660 32981505 +PA25415 8019 HGNC:1104 ENSG00000169925 bromodomain containing 3 BRD3 RING3-like, female sterile homeotic related gene 2 FSHRG2, KIAA0043, ORFX, RING3L Yes Yes Comparative Toxicogenomics Database:8019, Ensembl:ENSG00000169925, GenAtlas:BRD3, GeneCard:BRD3, HGNC:HGNC:1104, HumanCyc Gene:HS10036, ModBase:Q15059, NCBI Gene:8019, OMIM:601541, RefSeq DNA:NT_035014, RefSeq Protein:NP_031397, RefSeq RNA:NM_007371, UCSC Genome Browser:NM_007371, UniProtKB:Q15059 No chr9 136895427 136933655 134030305 134068533 +PA164723633 266655 HGNC:24742 ENSG00000235106 BRD3 opposite strand BRD3OS Super enhancer and ERK1/2 Regulated Long Intergenic non-protein coding transcript Overexpressed in Carcinomas, long intergenic non-protein coding RNA 94 FLJ35348, LINC00094, NCRNA00094, SERLOC, bA374P20.3 Yes No Ensembl:ENSG00000235106, GeneCard:NCRNA00094, HGNC:HGNC:24742, NCBI Gene:266655, RefSeq DNA:NT_035014, RefSeq RNA:NM_001355256 No chr9 136890561 136896719 134025439 134031597 +PA25416 23476 HGNC:13575 ENSG00000141867 bromodomain containing 4 BRD4 chromosome-associated protein, female sterile homeotic related gene 4, mitotic chromosome-associated protein CAP, FSHRG4, HUNK1, HUNKI, MCAP Yes No Ensembl:ENSG00000141867, GenAtlas:BRD4, GeneCard:BRD4, HGNC:HGNC:13575, HumanCyc Gene:HS06874, ModBase:O60885, NCBI Gene:23476, OMIM:608749, RefSeq DNA:NT_011295, RefSeq Protein:NP_055114, RefSeq Protein:NP_490597, RefSeq RNA:NM_014299, RefSeq RNA:NM_058243, UCSC Genome Browser:NM_014299, UniProtKB:O60885, UniProtKB:Q4G0X8 No chr19 15348301 15443354 15236836 15332543 +PA25417 29117 HGNC:14310 ENSG00000166164 bromodomain containing 7 BRD7 BP75, CELTIX1, SMARCI1 Yes No Comparative Toxicogenomics Database:29117, Ensembl:ENSG00000166164, GenAtlas:BRD7, GeneCard:BRD7, HGNC:HGNC:14310, HumanCyc Gene:HS09343, ModBase:Q9NPI1, NCBI Gene:29117, RefSeq DNA:NG_023418, RefSeq DNA:NT_010498, RefSeq Protein:NP_001167455, RefSeq Protein:NP_037395, RefSeq RNA:NM_001173984, RefSeq RNA:NM_013263, UCSC Genome Browser:NM_013263, UniProtKB:Q9NPI1 No chr16 50352929 50402845 50317563 50368969 +PA134923194 10902 HGNC:19874 ENSG00000112983 bromodomain containing 8 BRD8 SMAP, p120 Yes No Comparative Toxicogenomics Database:10902, Ensembl:ENSG00000112983, GeneCard:BRD8, HGNC:HGNC:19874, HumanCyc Gene:HS03637, ModBase:Q9H0E9, NCBI Gene:10902, OMIM:602848, RefSeq DNA:NT_034772, RefSeq Protein:NP_001157798, RefSeq Protein:NP_006687, RefSeq Protein:NP_631938, RefSeq Protein:NP_899203, RefSeq RNA:NM_001164326, RefSeq RNA:NM_006696, RefSeq RNA:NM_139199, RefSeq RNA:NM_183359, UniProtKB:Q9H0E9 No chr5 137475455 137514358 138139766 138178669 +PA134866578 65980 HGNC:25818 ENSG00000028310 bromodomain containing 9 BRD9 FLJ13441, SMARCI2 Yes No Ensembl:ENSG00000028310, GeneCard:BRD9, HGNC:HGNC:25818, HumanCyc Gene:HS12075, ModBase:Q9H8M2, NCBI Gene:65980, RefSeq DNA:NT_006576, RefSeq Protein:NP_001009877, RefSeq Protein:NP_076413, RefSeq RNA:NM_001009877, RefSeq RNA:NM_023924, RefSeq RNA:NR_027633, UniProtKB:B4DMQ2, UniProtKB:B4DXI2, UniProtKB:Q9H8M2 No chr5 863850 892939 863735 892824 +PA25418 676 HGNC:1105 ENSG00000137948 bromodomain testis associated BRDT """bromodomain, testis-specific"", ""cancer/testis antigen 9""" BRD6, BRDt, CT9 Yes No Comparative Toxicogenomics Database:676, Ensembl:ENSG00000137948, GenAtlas:BRDT, GeneCard:BRDT, HGNC:HGNC:1105, HumanCyc Gene:HS06424, ModBase:Q58F21, NCBI Gene:676, OMIM:602144, RefSeq DNA:NT_032977, RefSeq Protein:NP_001229734, RefSeq Protein:NP_001229735, RefSeq Protein:NP_001229736, RefSeq Protein:NP_001229737, RefSeq Protein:NP_001229739, RefSeq Protein:NP_001717, RefSeq Protein:NP_997072, RefSeq RNA:NM_001242805, RefSeq RNA:NM_001242806, RefSeq RNA:NM_001242807, RefSeq RNA:NM_001242808, RefSeq RNA:NM_001242810, RefSeq RNA:NM_001726, RefSeq RNA:NM_207189, UCSC Genome Browser:NM_001726, UniProtKB:Q58F21 No chr1 92414928 92479985 91949371 92014428 +PA164741296 2972 HGNC:11551 ENSG00000185024 BRF1 general transcription factor IIIB subunit BRF1 """BRF1 RNA polymerase III transcription initiation factor subunit"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"", ""BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit"", ""BRF1, RNA polymerase III transcription initiation factor subunit""" BRF, GTF3B, TAF3B2, TAF3C, TFIIIB90, hBRF Yes No Ensembl:ENSG00000185024, GeneCard:BRF1, HGNC:HGNC:11551, ModBase:Q92994, NCBI Gene:2972, OMIM:604902, RefSeq DNA:NT_026437, RefSeq Protein:NP_001229715, RefSeq Protein:NP_001229716, RefSeq Protein:NP_001229717, RefSeq Protein:NP_001229718, RefSeq Protein:NP_001229719, RefSeq Protein:NP_001510, RefSeq Protein:NP_663718, RefSeq RNA:NM_001242786, RefSeq RNA:NM_001242787, RefSeq RNA:NM_001242788, RefSeq RNA:NM_001242789, RefSeq RNA:NM_001242790, RefSeq RNA:NM_001519, RefSeq RNA:NM_145685, UniProtKB:Q92994 No chr14 105675623 105781914 105209286 105315577 +PA164741329 55290 HGNC:17298 ENSG00000104221 BRF2 general transcription factor IIIB subunit BRF2 """BRF2 RNA polymerase III transcription initiation factor subunit"", ""BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit"", ""BRF2, RNA polymerase III transcription initiation factor subunit"", ""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like""" BRFU, FLJ11052, TFIIIB50 Yes No Ensembl:ENSG00000104221, GeneCard:BRF2, HGNC:HGNC:17298, HumanCyc Gene:HS02554, ModBase:Q9HAW0, NCBI Gene:55290, OMIM:607013, RefSeq DNA:NT_167187, RefSeq Protein:NP_060780, RefSeq RNA:NM_018310, UniProtKB:Q9HAW0 No chr8 37701398 37707431 37843880 37849913 +PA25422 25798 HGNC:1109 ENSG00000164713 brain protein I3 BRI3 Yes No Ensembl:ENSG00000164713, GenAtlas:BRI3, GeneCard:BRI3, HGNC:HGNC:1109, HumanCyc Gene:HS09122, NCBI Gene:25798, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001152963, RefSeq Protein:NP_056194, RefSeq RNA:NM_001159491, RefSeq RNA:NM_015379, UCSC Genome Browser:NM_015379, UniProtKB:O95415 No chr7 97910972 97952972 98281667 98322398 +PA25423 140707 HGNC:14251 ENSG00000184992 BRI3 binding protein BRI3BP BNAS1, HCCR-2, HCCRBP-3, KG19 Yes No Comparative Toxicogenomics Database:140707, Ensembl:ENSG00000184992, GenAtlas:BRI3BP, GeneCard:BRI3BP, HGNC:HGNC:14251, ModBase:Q8WY22, NCBI Gene:140707, RefSeq DNA:NT_009755, RefSeq Protein:NP_542193, RefSeq RNA:NM_080626, UCSC Genome Browser:NM_080626, UniProtKB:Q8WY22 No chr12 125478194 125510349 124993648 125051845 +PA162378367 283870 HGNC:28309 ENSG00000182685 BRICHOS domain containing 5 BRICD5 C16orf79, MGC21830 Yes No Ensembl:ENSG00000182685, GeneCard:C16orf79, HGNC:HGNC:28309, NCBI Gene:283870, RefSeq DNA:NT_010393, RefSeq Protein:NP_872369, RefSeq RNA:NM_182563, UniProtKB:Q6PL45 No chr16 2259254 2263541 2209253 2213037 +PA27156 1620 HGNC:2687 ENSG00000078725 BMP/retinoic acid inducible neural specific 1 BRINP1 bone morphogenetic protein/retinoic acid inducible neural-specific 1, deleted in bladder cancer 1 BRINP1, DBC1, DBCCR1, FAM5A Yes No Comparative Toxicogenomics Database:1620, Ensembl:ENSG00000078725, GenAtlas:DBC1, GeneCard:DBC1, HGNC:HGNC:2687, HumanCyc Gene:HS01298, ModBase:O60477, NCBI Gene:1620, OMIM:602865, RefSeq DNA:NT_008470, RefSeq Protein:NP_055433, RefSeq RNA:NM_014618, UniProtKB:O60477 No chr9 121928907 122131739 119166630 119369461 +PA142671895 57795 HGNC:13746 ENSG00000198797 BMP/retinoic acid inducible neural specific 2 BRINP2 """bone morphogenetic protein/retinoic acid inducible neural-specific 2"", ""family with sequence similarity 5, member B""" BRINP2, DBCCR1L2, FAM5B Yes No Ensembl:ENSG00000198797, GeneCard:FAM5B, HGNC:HGNC:13746, ModBase:Q9C0B6, NCBI Gene:57795, RefSeq DNA:NT_004487, RefSeq Protein:NP_066988, RefSeq RNA:NM_021165, UniProtKB:Q9C0B6 No chr1 177140058 177251558 177170922 177282422 +PA142671896 339479 HGNC:22393 ENSG00000162670 BMP/retinoic acid inducible neural specific 3 BRINP3 """bone morphogenetic protein/retinoic acid inducible neural-specific 3"", ""family with sequence similarity 5, member C""" BRINP3, DBCCR1L, DBCCR1L1, FAM5C Yes Yes Ensembl:ENSG00000162670, GeneCard:FAM5C, HGNC:HGNC:22393, ModBase:Q76B58, NCBI Gene:339479, RefSeq DNA:NT_004487, RefSeq Protein:NP_950252, RefSeq RNA:NM_199051, UniProtKB:Q76B58 No chr1 190066792 190447534 190097662 190477997 +PA134906421 83990 HGNC:20473 ENSG00000136492 BRCA1 interacting DNA helicase 1 BRIP1 BRCA1 interacting protein 1, BRCA1 interacting protein C-terminal helicase 1, BRCA1-associated C-terminal helicase, BRCA1/BRCA2-associated helicase 1, FANCJ helicase BACH1, FANCJ, OF Yes Yes Comparative Toxicogenomics Database:83990, Ensembl:ENSG00000136492, GeneCard:BRIP1, HGNC:HGNC:20473, HumanCyc Gene:HS06171, ModBase:Q9BX63, NCBI Gene:83990, OMIM:114480, OMIM:605882, OMIM:609054, RefSeq DNA:NG_007409, RefSeq DNA:NT_010783, RefSeq Protein:NP_114432, RefSeq RNA:NM_032043, UniProtKB:Q9BX63 No chr17 59756547 59940920 61679186 61864120 +PA165660166 55299 HGNC:24170 ENSG00000113460 biogenesis of ribosomes BRX1 BRIX1 """BRX1, biogenesis of ribosomes"", ""BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)""" BRIX, BXDC2, FLJ11100 Yes No Comparative Toxicogenomics Database:55299, Ensembl:ENSG00000113460, GeneCard:BRIX1, HGNC:HGNC:24170, HumanCyc Gene:HS12796, ModBase:Q8TDN6, NCBI Gene:55299, RefSeq DNA:NT_006576, RefSeq Protein:NP_060791, RefSeq RNA:NM_018321, UniProtKB:Q8TDN6 No chr5 34915820 34925787 34915715 34925682 +PA134866423 55845 HGNC:23057 ENSG00000254999 BRICK1 subunit of SCAR/WAVE actin nucleating complex BRK1 """BRICK1, SCAR/WAVE actin nucleating complex subunit"", ""BRICK1, SCAR/WAVE actin-nucleating complex subunit"", ""BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog (Arabidopsis thaliana)"", ""haematopoietic stem/progenitor cell protein 300""" C3orf10, HSPC300, MDS027 Yes No Comparative Toxicogenomics Database:55845, Ensembl:ENSG00000254999, GeneCard:C3orf10, HGNC:HGNC:23057, HumanCyc Gene:HS13508, NCBI Gene:55845, OMIM:611183, RefSeq DNA:NT_022517, RefSeq Protein:NP_060932, RefSeq RNA:NM_018462, UniProtKB:Q8WUW1 No chr3 10157333 10168874 10115649 10127190 +PA166352186 79173 HGNC:28153 break repair meiotic recombinase recruitment factor 1 BRME1 BRCA2 and MEILB2-associating protein 1, meiosis-specific 4930432K21RIK C19orf57, MEIOK21, MGC11271 Yes No HGNC:HGNC:28153, NCBI Gene:79173 No 0 0 0 0 +PA164741342 25855 HGNC:17262 ENSG00000174744 BRMS1 transcriptional repressor and anoikis regulator BRMS1 """BRMS1, transcriptional repressor and anoikis regulator"", ""breast cancer metastasis suppressor 1""" DKFZP564A063 Yes No Ensembl:ENSG00000174744, GeneCard:BRMS1, HGNC:HGNC:17262, HumanCyc Gene:HS10826, ModBase:Q9HCU9, NCBI Gene:25855, OMIM:606259, RefSeq DNA:NT_167190, RefSeq Protein:NP_001020128, RefSeq Protein:NP_056214, RefSeq RNA:NM_001024957, RefSeq RNA:NM_015399, UniProtKB:Q9HCU9 No chr11 66104804 66112596 66337333 66345111 +PA134968356 84312 HGNC:20512 ENSG00000100916 BRMS1 like transcriptional repressor BRMS1L breast cancer metastasis-suppressor 1-like BRMS1, FLJ39177, MGC11296, p40 Yes No Ensembl:ENSG00000100916, GeneCard:BRMS1L, HGNC:HGNC:20512, HumanCyc Gene:HS12431, ModBase:Q5PSV4, NCBI Gene:84312, RefSeq DNA:NT_026437, RefSeq Protein:NP_115728, RefSeq RNA:NM_032352, UniProtKB:Q5PSV4 No chr14 36295524 36341169 35825596 35871963 +PA142672509 148362 HGNC:26512 ENSG00000162819 BRO1 domain and CAAX motif containing BROX BRO1 domain containing protein C1orf58, FLJ32421 Yes No Ensembl:ENSG00000162819, GeneCard:C1orf58, HGNC:HGNC:26512, HumanCyc Gene:HS14972, ModBase:Q5VW32, NCBI Gene:148362, RefSeq DNA:NT_167186, RefSeq Protein:NP_653296, RefSeq RNA:NM_144695, UniProtKB:Q5VW32 No chr1 222885906 222908529 222712553 222735196 +PA25424 7862 HGNC:14255 ENSG00000156983 bromodomain and PHD finger containing 1 BRPF1 """bromodomain and PHD finger containing, 1"", ""bromodomain-containing protein, 140kD"", ""peregrin""" BR140 Yes No Comparative Toxicogenomics Database:7862, Ensembl:ENSG00000156983, GenAtlas:BRPF1, GeneCard:BRPF1, HGNC:HGNC:14255, ModBase:P55201, NCBI Gene:7862, OMIM:602410, RefSeq DNA:NT_022517, RefSeq Protein:NP_001003694, RefSeq Protein:NP_004625, RefSeq RNA:NM_001003694, RefSeq RNA:NM_004634, UCSC Genome Browser:NM_004634, UniProtKB:P55201 No chr3 9773413 9789699 9731729 9748015 +PA25425 27154 HGNC:14256 ENSG00000096070 bromodomain and PHD finger containing 3 BRPF3 bromodomain and PHD finger containing, 3 KIAA1286 Yes No Ensembl:ENSG00000096070, GenAtlas:BRPF3, GeneCard:BRPF3, HGNC:HGNC:14256, HumanCyc Gene:HS01844, ModBase:Q9ULD4, NCBI Gene:27154, RefSeq DNA:NT_007592, RefSeq Protein:NP_056510, RefSeq RNA:NM_015695, UniProtKB:Q9ULD4 No chr6 36164408 36200567 36196773 36232790 +PA25427 680 HGNC:1113 ENSG00000102239 bombesin receptor subtype 3 BRS3 bombesin-like receptor 3 BB3, BB3R, BBR3 Yes No Ensembl:ENSG00000102239, GenAtlas:BRS3, GeneCard:BRS3, HGNC:HGNC:1113, HumanCyc Gene:HS02372, IUPHAR Receptor:40, ModBase:P32247, NCBI Gene:680, OMIM:300107, RefSeq DNA:NT_011786, RefSeq Protein:NP_001718, RefSeq RNA:NM_001727, UCSC Genome Browser:NM_001727, UniProtKB:P32247 No chrX 135564521 135575931 136487966 136492439 +PA134888976 84446 HGNC:18994 ENSG00000160469 BR serine/threonine kinase 1 BRSK1 brain selective kinase 1 KIAA1811, SAD-B Yes No Ensembl:ENSG00000160469, GeneCard:BRSK1, HGNC:HGNC:18994, HumanCyc Gene:HS08504, ModBase:Q8TDC3, NCBI Gene:84446, OMIM:609235, RefSeq DNA:NT_011109, RefSeq Protein:NP_115806, RefSeq RNA:NM_032430, UniProtKB:Q8TDC3 No chr19 55793440 55823930 55284101 55312562 +PA36212 9024 HGNC:11405 ENSG00000174672 BR serine/threonine kinase 2 BRSK2 brain selective kinase 2, serine/threonine kinase 29 C11orf7, PEN11B, SAD-A, STK29 Yes No Ensembl:ENSG00000174672, GenAtlas:BRSK2, GeneCard:BRSK2, HGNC:HGNC:11405, HumanCyc Gene:HS10819, ModBase:Q8IWQ3, NCBI Gene:9024, OMIM:609236, RefSeq DNA:NT_009237, RefSeq Protein:NP_003948, RefSeq RNA:NM_003957, UCSC Genome Browser:NM_003957, UniProtKB:Q8IWQ3 No chr11 1411129 1483919 1389899 1462689 +PA134906879 54014 HGNC:12760 ENSG00000185658 bromodomain and WD repeat domain containing 1 BRWD1 C21orf107, DCAF19, FLJ11315, N143, WDR9 Yes No Comparative Toxicogenomics Database:54014, Ensembl:ENSG00000185658, GenAtlas:BRWD1, GeneCard:BRWD1, HGNC:HGNC:12760, ModBase:Q9NSI6, NCBI Gene:54014, RefSeq DNA:NT_011512, RefSeq Protein:NP_001007247, RefSeq Protein:NP_061836, RefSeq Protein:NP_387505, RefSeq RNA:NM_001007246, RefSeq RNA:NM_018963, RefSeq RNA:NM_033656, UCSC Genome Browser:NM_018963, UniProtKB:Q6P2D1, UniProtKB:Q9NSI6 No chr21 40556102 40685745 39184176 39321595 +PA134900775 254065 HGNC:17342 ENSG00000165288 bromodomain and WD repeat domain containing 3 BRWD3 Bromo Domain-Containing Protein Disrupted In Leukemia BRODL, FLJ38568, MRX93 Yes No Comparative Toxicogenomics Database:254065, Ensembl:ENSG00000165288, GeneCard:BRWD3, HGNC:HGNC:17342, HumanCyc Gene:HS15307, ModBase:Q6RI45, NCBI Gene:254065, OMIM:300553, OMIM:300659, RefSeq DNA:NG_021349, RefSeq DNA:NT_011651, RefSeq Protein:NP_694984, RefSeq RNA:NM_153252, UniProtKB:Q6RI45 No chrX 79924987 80065233 80669488 80809736 +PA25432 26580 HGNC:15832 ENSG00000168000 BSCL2 lipid droplet biogenesis associated, seipin BSCL2 """BSCL2, seipin lipid droplet biogenesis associated"", ""Berardinelli-Seip congenital lipodystrophy 2 (seipin)""" GNG3LG, SPG17, seipin Yes No Comparative Toxicogenomics Database:26580, Ensembl:ENSG00000168000, GenAtlas:BSCL2, GeneCard:BSCL2, HGNC:HGNC:15832, NCBI Gene:26580, OMIM:269700, OMIM:270685, OMIM:600794, OMIM:606158, RefSeq DNA:NG_008461, RefSeq DNA:NT_167190, RefSeq Protein:NP_001116427, RefSeq Protein:NP_001124174, RefSeq Protein:NP_116056, RefSeq RNA:NM_001122955, RefSeq RNA:NM_001130702, RefSeq RNA:NM_001386027, RefSeq RNA:NM_001386028, RefSeq RNA:NM_032667, UCSC Genome Browser:NM_032667, UniProtKB:Q53EN3, UniProtKB:Q96G97 No chr11 62457734 62477091 62690262 62709619 +PA142672548 55108 HGNC:25501 ENSG00000160058 BSD domain containing 1 BSDC1 FLJ10276, RP4-811H24.7 Yes No Comparative Toxicogenomics Database:55108, Ensembl:ENSG00000160058, GeneCard:BSDC1, HGNC:HGNC:25501, HumanCyc Gene:HS14792, ModBase:Q9NW68, NCBI Gene:55108, RefSeq DNA:NT_032977, RefSeq Protein:NP_001137360, RefSeq Protein:NP_001137361, RefSeq Protein:NP_001137362, RefSeq Protein:NP_060515, RefSeq RNA:NM_001143888, RefSeq RNA:NM_001143889, RefSeq RNA:NM_001143890, RefSeq RNA:NM_018045, UniProtKB:B4DMS7, UniProtKB:B4DTP7, UniProtKB:B4E2X8, UniProtKB:Q9NW68 No chr1 32830704 32860062 32364633 32394461 +PA25433 682 HGNC:1116 ENSG00000172270 basigin (Ok blood group) BSG Ok blood group, Tumor cell-derived collagenase stimulatory factor, extracellular matrix metalloproteinase inducer CD147, EMMPRIN, EMPRIN, OK Yes No Comparative Toxicogenomics Database:682, Ensembl:ENSG00000172270, GenAtlas:BSG, GeneCard:BSG, HGNC:HGNC:1116, HumanCyc Gene:HS10482, ModBase:P35613, NCBI Gene:682, OMIM:109480, OMIM:111380, RefSeq DNA:NG_007468, RefSeq DNA:NT_011255, RefSeq Protein:NP_001719, RefSeq Protein:NP_940991, RefSeq Protein:NP_940993, RefSeq RNA:NM_001728, RefSeq RNA:NM_198589, RefSeq RNA:NM_198591, UCSC Genome Browser:NM_001728, UniProtKB:A6NJW1, UniProtKB:P35613, UniProtKB:Q54A51 No chr19 571277 583493 571277 583493 +PA25434 8927 HGNC:1117 ENSG00000164061 bassoon presynaptic cytomatrix protein BSN neuronal double zinc finger protein, zinc finger protein 231 ZNF231 Yes No Comparative Toxicogenomics Database:8927, Ensembl:ENSG00000164061, GenAtlas:BSN, GeneCard:BSN, HGNC:HGNC:1117, HumanCyc Gene:HS08996, NCBI Gene:8927, OMIM:604020, RefSeq DNA:NG_015892, RefSeq DNA:NT_022517, RefSeq Protein:NP_003449, RefSeq RNA:NM_003458, UCSC Genome Browser:NM_003458, UniProtKB:Q9UPA5 No chr3 49591922 49708982 49554489 49671549 +PA134911659 7809 HGNC:16512 ENSG00000162399 barttin CLCNK type accessory subunit beta BSND """Bartter syndrome, infantile, with sensorineural deafness (Barttin)"", ""barttin CLCNK type accessory beta subunit"", ""barttin CLCNK-type chloride channel accessory beta subunit""" BART, DFNB73 Yes No Comparative Toxicogenomics Database:7809, Ensembl:ENSG00000162399, GeneCard:BSND, HGNC:HGNC:16512, HumanCyc Gene:HS14913, ModBase:Q8WZ55, NCBI Gene:7809, OMIM:602522, OMIM:606412, RefSeq DNA:NG_008965, RefSeq DNA:NT_032977, RefSeq Protein:NP_476517, RefSeq RNA:NM_057176, UniProtKB:Q5VU50, UniProtKB:Q8WZ55 No chr1 55464617 55474465 54998944 55008792 +PA164716709 100131137 HGNC:33906 ENSG00000188334 binder of sperm protein homolog 1 BSPH1 bovine seminal plasma protein homolog 1, epididymal sperm binding protein 2 BSP1, ELSPBP2 Yes No Ensembl:ENSG00000188334, GeneCard:BSPH1, HGNC:HGNC:33906, ModBase:Q075Z2, NCBI Gene:100131137, OMIM:612213, RefSeq DNA:NT_011109, RefSeq Protein:NP_001121798, RefSeq RNA:NM_001128326, UniProtKB:Q075Z2 No chr19 48471303 48495427 47967258 47992170 +PA134979106 54836 HGNC:18232 ENSG00000119411 B-box and SPRY domain containing BSPRY FLJ20150 Yes No Comparative Toxicogenomics Database:54836, Ensembl:ENSG00000119411, GeneCard:BSPRY, HGNC:HGNC:18232, HumanCyc Gene:HS04295, ModBase:Q5W0U4, NCBI Gene:54836, RefSeq DNA:NT_008470, RefSeq Protein:NP_060158, RefSeq RNA:NM_017688, UniProtKB:Q5W0U4 No chr9 116111812 116133513 113349532 113371233 +PA25435 683 HGNC:1118 ENSG00000109743 bone marrow stromal cell antigen 1 BST1 ADP-ribosyl cyclase 2, NAD(+) nucleosidase, cyclic ADP-ribose hydrolase BST-1, CD157, cADPR2 Yes Yes Comparative Toxicogenomics Database:683, Ensembl:ENSG00000109743, GenAtlas:BST1, GeneCard:BST1, HGNC:HGNC:1118, HumanCyc Gene:HS03254, ModBase:Q10588, NCBI Gene:683, OMIM:600387, RefSeq DNA:NT_006316, RefSeq Protein:NP_004325, RefSeq RNA:NM_004334, UCSC Genome Browser:NM_004334, UniProtKB:Q10588 No chr4 15704573 15741121 15686347 15774177 +PA25436 684 HGNC:1119 ENSG00000130303 bone marrow stromal cell antigen 2 BST2 antiviral factor tetherin BST-2, CD317, HM1.24, tetherin Yes No Ensembl:ENSG00000130303, GenAtlas:BST2, GeneCard:BST2, HGNC:HGNC:1119, HumanCyc Gene:HS05367, ModBase:Q10589, NCBI Gene:684, OMIM:600534, RefSeq DNA:NT_011295, RefSeq Protein:NP_004326, RefSeq RNA:NM_004335, UCSC Genome Browser:NM_004335, UniProtKB:Q10589 No chr19 17502238 17516458 17402939 17405648 +PA162377618 390259 HGNC:20450 ENSG00000188909 brain specific homeobox BSX brain-specific homeobox BSX1 Yes No Ensembl:ENSG00000188909, GeneCard:BSX, HGNC:HGNC:20450, ModBase:Q3C1V8, NCBI Gene:390259, OMIM:611074, RefSeq DNA:NT_033899, RefSeq Protein:NP_001091639, RefSeq RNA:NM_001098169, UniProtKB:Q3C1V8 No chr11 122848357 122852379 122977649 122981671 +PA25437 9044 HGNC:17307 ENSG00000095564 B-TFIID TATA-box binding protein associated factor 1 BTAF1 """BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa"", ""Mot1 homolog (S. cerevisiae)""" MOT1, TAF(II)170, TAF-172, TAF172, TAFII170 Yes No Comparative Toxicogenomics Database:9044, Ensembl:ENSG00000095564, GenAtlas:BTAF1, GeneCard:BTAF1, HGNC:HGNC:17307, HumanCyc Gene:HS01825, ModBase:O14981, NCBI Gene:9044, OMIM:605191, RefSeq DNA:NT_030059, RefSeq Protein:NP_003963, RefSeq RNA:NM_003972, UCSC Genome Browser:NM_003972, UniProtKB:O14981, UniProtKB:Q2M1V9, UniProtKB:Q8N6J1 No chr10 93683526 93790755 91923769 92030998 +PA25438 53339 HGNC:1120 ENSG00000064726 BTB domain containing 1 BTBD1 BTB (POZ) domain containing 1 Yes No Comparative Toxicogenomics Database:53339, Ensembl:ENSG00000064726, GenAtlas:BTBD1, GeneCard:BTBD1, HGNC:HGNC:1120, HumanCyc Gene:HS00817, ModBase:Q9H0C5, NCBI Gene:53339, OMIM:608530, RefSeq DNA:NT_077661, RefSeq Protein:NP_001011885, RefSeq Protein:NP_079514, RefSeq RNA:NM_001011885, RefSeq RNA:NM_025238, UCSC Genome Browser:NM_025238, UniProtKB:A6NMI8, UniProtKB:Q9H0C5 No chr15 83685175 83736106 83016423 83067434 +PA142672543 84280 HGNC:21445 ENSG00000148925 BTB domain containing 10 BTBD10 BTB (POZ) domain containing 10 GMRP-1, GMRP1, MGC13007 Yes No Comparative Toxicogenomics Database:84280, Ensembl:ENSG00000148925, GeneCard:BTBD10, HGNC:HGNC:21445, HumanCyc Gene:HS14260, ModBase:Q9BSF8, NCBI Gene:84280, RefSeq DNA:NT_009237, RefSeq Protein:NP_115696, RefSeq RNA:NM_032320, UniProtKB:Q6P5W1, UniProtKB:Q9BSF8 No chr11 13409555 13484838 13387996 13463297 +PA134900594 118663 HGNC:26340 ENSG00000138152 BTB domain containing 16 BTBD16 BTB (POZ) domain containing 16 C10orf87, Em:AC061711.1, FLJ25359 Yes No Comparative Toxicogenomics Database:118663, Ensembl:ENSG00000138152, GeneCard:BTBD16, HGNC:HGNC:26340, HumanCyc Gene:HS13714, ModBase:Q32M84, NCBI Gene:118663, RefSeq DNA:NT_030059, RefSeq Protein:NP_653188, RefSeq RNA:NM_144587, UniProtKB:Q32M84 No chr10 124030811 124097676 122270745 122338180 +PA162377627 388419 HGNC:33758 ENSG00000204347 BTB domain containing 17 BTBD17 BTB (POZ) domain containing 17, transport and golgi organization 10 homolog A (Drosophila) BTBD17A, LGALS3BPL, TANGO10A Yes No Ensembl:ENSG00000204347, GeneCard:BTBD17, HGNC:HGNC:33758, ModBase:A6NE02, NCBI Gene:388419, RefSeq DNA:NT_010783, RefSeq Protein:NP_001073935, RefSeq RNA:NM_001080466, UniProtKB:A6NE02 No chr17 72352555 72357958 74356416 74363655 +PA165543229 643376 HGNC:37214 ENSG00000233436 BTB domain containing 18 BTBD18 BTB (POZ) domain containing 18 Yes No Ensembl:ENSG00000233436, GeneCard:BTBD18, HGNC:HGNC:37214, NCBI Gene:643376, RefSeq DNA:NT_167190, RefSeq Protein:NP_001138573, RefSeq RNA:NM_001145101, UniProtKB:B2RXH4 No chr11 57510986 57519253 57743514 57753176 +PA165750488 149478 HGNC:27145 ENSG00000222009 BTB domain containing 19 BTBD19 BTB (POZ) domain containing 19 Yes No Ensembl:ENSG00000222009, GeneCard:BTBD19, HGNC:HGNC:27145, NCBI Gene:149478, RefSeq DNA:NT_032977, RefSeq Protein:NP_001130009, RefSeq RNA:NM_001136537, UniProtKB:C9JJ37 No chr1 45273373 45279801 44807442 44814199 +PA25439 55643 HGNC:15504 ENSG00000133243 BTB domain containing 2 BTBD2 BTB (POZ) domain containing 2 Yes No Comparative Toxicogenomics Database:55643, Ensembl:ENSG00000133243, GenAtlas:BTBD2, GeneCard:BTBD2, HGNC:HGNC:15504, HumanCyc Gene:HS05751, ModBase:Q9NX81, NCBI Gene:55643, OMIM:608531, RefSeq DNA:NT_011255, RefSeq Protein:NP_060267, RefSeq RNA:NM_017797, UCSC Genome Browser:NM_017797, UniProtKB:Q9BX70 No chr19 1985437 2015702 1985438 2015703 +PA25440 22903 HGNC:15854 ENSG00000132640 BTB domain containing 3 BTBD3 BTB (POZ) domain containing 3 KIAA0952, dJ742J24.1 Yes No Comparative Toxicogenomics Database:22903, Ensembl:ENSG00000132640, GenAtlas:BTBD3, GeneCard:BTBD3, HGNC:HGNC:15854, HumanCyc Gene:HS05666, ModBase:Q9Y2F9, NCBI Gene:22903, RefSeq DNA:NT_011387, RefSeq Protein:NP_055777, RefSeq Protein:NP_852108, RefSeq RNA:NM_014962, RefSeq RNA:NM_181443, UCSC Genome Browser:NM_014962, UniProtKB:Q5JY73, UniProtKB:Q9Y2F9 No chr20 11871377 11907243 11890723 11926595 +PA128394741 90135 HGNC:19897 ENSG00000184887 BTB domain containing 6 BTBD6 BTB (POZ) domain containing 6 BDPL Yes No Ensembl:ENSG00000184887, GeneCard:BTBD6, HGNC:HGNC:19897, ModBase:Q96KE9, NCBI Gene:90135, RefSeq DNA:NT_026437, RefSeq Protein:NP_150374, RefSeq RNA:NM_033271, UCSC Genome Browser:NM_033271, UniProtKB:Q96KE9 No chr14 105714879 105717430 105248542 105251093 +PA134938971 55727 HGNC:18269 ENSG00000011114 BTB domain containing 7 BTBD7 BTB (POZ) domain containing 7 FLJ10648, FUP1 Yes No Ensembl:ENSG00000011114, GeneCard:BTBD7, HGNC:HGNC:18269, HumanCyc Gene:HS00303, ModBase:Q9P203, NCBI Gene:55727, OMIM:610386, RefSeq DNA:NT_026437, RefSeq Protein:NP_001002860, RefSeq Protein:NP_060637, RefSeq RNA:NM_001002860, RefSeq RNA:NM_018167, UniProtKB:Q9P203 No chr14 93703896 93799385 93237550 93333092 +PA134916444 284697 HGNC:21019 ENSG00000189195 BTB domain containing 8 BTBD8 BTB (POZ) domain containing 8 APache, KIAA1107 Yes No Ensembl:ENSG00000189195, GeneCard:BTBD8, HGNC:HGNC:21019, ModBase:Q5XKL5, NCBI Gene:284697, RefSeq DNA:NT_032977, RefSeq Protein:NP_899065, RefSeq RNA:NM_183242, UniProtKB:Q5XKL5 No chr1 92545862 92613397 92080305 92147840 +PA134891920 114781 HGNC:21228 ENSG00000183826 BTB domain containing 9 BTBD9 BTB (POZ) domain containing 9 KIAA1880, dJ322I12.1 Yes No Comparative Toxicogenomics Database:114781, Ensembl:ENSG00000183826, GeneCard:BTBD9, HGNC:HGNC:21228, ModBase:Q96Q07, NCBI Gene:114781, OMIM:611185, OMIM:611237, RefSeq DNA:NG_016545, RefSeq DNA:NT_007592, RefSeq Protein:NP_001092742, RefSeq Protein:NP_001165889, RefSeq Protein:NP_443125, RefSeq Protein:NP_689946, RefSeq RNA:NM_001099272, RefSeq RNA:NM_001172418, RefSeq RNA:NM_052893, RefSeq RNA:NM_152733, UniProtKB:Q494V9, UniProtKB:Q494W1, UniProtKB:Q96Q07 No chr6 38136227 38608202 38168451 38640426 +PA25442 685 HGNC:1121 ENSG00000174808 betacellulin BTC probetacellulin Yes No Comparative Toxicogenomics Database:685, Ensembl:ENSG00000174808, GenAtlas:BTC, GeneCard:BTC, HGNC:HGNC:1121, HumanCyc Gene:HS10834, ModBase:P35070, NCBI Gene:685, OMIM:600345, RefSeq DNA:NT_016354, RefSeq Protein:NP_001720, RefSeq RNA:NM_001729, UCSC Genome Browser:NM_001729, UniProtKB:P35070 No chr4 75671448 75719882 74744759 74794718 +PA25443 686 HGNC:1122 ENSG00000169814 biotinidase BTD biocytinase, biotinase Yes No Comparative Toxicogenomics Database:686, Ensembl:ENSG00000169814, GenAtlas:BTD, GeneCard:BTD, HGNC:HGNC:1122, HumanCyc Gene:HS10012, ModBase:P43251, NCBI Gene:686, OMIM:253260, OMIM:609019, RefSeq DNA:NG_008019, RefSeq DNA:NT_022517, RefSeq Protein:NP_001357587, RefSeq RNA:NM_001370658, UCSC Genome Browser:NM_000060, UniProtKB:P43251 No chr3 15642864 15689147 15601352 15653709 +PA25445 689 HGNC:1125 ENSG00000145741 basic transcription factor 3 BTF3 BTF3a, BTF3b, NACB Yes No Comparative Toxicogenomics Database:689, Ensembl:ENSG00000145741, GenAtlas:BTF3, GeneCard:BTF3, HGNC:HGNC:1125, HumanCyc Gene:HS07283, ModBase:P20290, NCBI Gene:689, OMIM:602542, RefSeq DNA:NT_006713, RefSeq Protein:NP_001032726, RefSeq Protein:NP_001198, RefSeq RNA:NM_001037637, RefSeq RNA:NM_001207, UCSC Genome Browser:NM_001207, UniProtKB:P20290 No chr5 72794250 72801448 73498425 73505623 +PA142672545 91408 HGNC:30547 ENSG00000134717 basic transcription factor 3 like 4 BTF3L4 basic transcription factor 3-like 4 MGC23908 Yes No Ensembl:ENSG00000134717, GeneCard:BTF3L4, HGNC:HGNC:30547, ModBase:Q96K17, NCBI Gene:91408, RefSeq DNA:NT_032977, RefSeq Protein:NP_001129969, RefSeq Protein:NP_689478, RefSeq RNA:NM_001136497, RefSeq RNA:NM_152265, RefSeq RNA:NR_024350, UniProtKB:B3KNJ1, UniProtKB:Q96K17 No chr1 52521857 52556388 52056185 52090716 +PA25449 693 HGNC:1129 ENSG00000254225 basic transcription factor 3, pseudogene 1 BTF3P1 lambda h16 HUMBTFA Yes No Ensembl:ENSG00000254225, GenAtlas:BTF3P1, GeneCard:BTF3P1, HGNC:HGNC:1129, NCBI Gene:693, RefSeq DNA:NG_001086, RefSeq DNA:NT_008183 No chr8 52633816 52635606 51721256 51723046 +PA165617688 345829 HGNC:38570 ENSG00000231120 basic transcription factor 3 pseudogene 10 BTF3P10 Yes No Ensembl:ENSG00000231120, GeneCard:RAET1J, HGNC:HGNC:38570, NCBI Gene:345829, RefSeq DNA:NG_005361, RefSeq DNA:NT_025741 No chr6 150298962 150299825 149977826 149978689 +PA25446 690 HGNC:1126 ENSG00000118903 basic transcription factor 3 pseudogene 11 BTF3P11 BTF3 homologue, lambda h27A HUMBTFB, OCIF, OPG, TNFRSF11B Yes No Ensembl:ENSG00000118903, GenAtlas:BTF3L1, GeneCard:BTF3P11, HGNC:HGNC:1126, HumanCyc Gene:HS04259, NCBI Gene:690, OMIM:602543, RefSeq DNA:NT_024524, RefSeq RNA:NR_026983, UCSC Genome Browser:NM_001208 No chr13 77502585 77503224 76928451 76929090 +PA25447 652963 HGNC:1127 ENSG00000213003 basic transcription factor 3 pseudogene 12 BTF3P12 lambda h23 HUMBTFC Yes No Ensembl:ENSG00000213003, GenAtlas:BTF3L2, GeneCard:BTF3P12, HGNC:HGNC:1127, NCBI Gene:652963, OMIM:603738, RefSeq DNA:NG_005366, RefSeq DNA:NT_008183, UCSC Genome Browser:NM_001209 No chr8 71185498 71186403 70273263 70274168 +PA25448 132556 HGNC:1128 ENSG00000227118 basic transcription factor 3 pseudogene 13 BTF3P13 lambda h33 HUMBTFD Yes No Ensembl:ENSG00000227118, GenAtlas:BTF3L3, GeneCard:BTF3P13, HGNC:HGNC:1128, NCBI Gene:132556, OMIM:603739, RefSeq DNA:NG_006070, RefSeq DNA:NT_016354 No chr4 99661776 99662647 98740625 98741496 +PA134970732 283631 HGNC:19924 ENSG00000258282 basic transcription factor 3, pseudogene 2 BTF3P2 Yes No Ensembl:ENSG00000258282, GeneCard:BTF3P2, HGNC:HGNC:19924, NCBI Gene:283631, RefSeq DNA:NG_002470, RefSeq DNA:NT_026437 No chr14 29142188 29143047 28672982 28673841 +PA142672546 652964 HGNC:31100 ENSG00000254272 basic transcription factor 3, pseudogene 3 BTF3P3 Yes No Ensembl:ENSG00000254272, GeneCard:BTF3P3, HGNC:HGNC:31100, NCBI Gene:652964 No chr8 22350013 22350888 22492500 22493375 +PA25450 694 HGNC:1130 ENSG00000133639 BTG anti-proliferation factor 1 BTG1 B-cell translocation gene 1, anti-proliferative APRO2 Yes No Comparative Toxicogenomics Database:694, Ensembl:ENSG00000133639, GenAtlas:BTG1, GeneCard:BTG1, HGNC:HGNC:1130, HumanCyc Gene:HS05775, ModBase:P62324, NCBI Gene:694, OMIM:109580, RefSeq DNA:NT_029419, RefSeq Protein:NP_001722, RefSeq RNA:NM_001731, UCSC Genome Browser:NM_001731, UniProtKB:P62324, UniProtKB:Q6IBC8 No chr12 92534054 92539673 92140278 92145897 +PA25451 7832 HGNC:1131 ENSG00000159388 BTG anti-proliferation factor 2 BTG2 """B-cell translocation gene 2"", ""BTG family, member 2"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"", ""pheochromacytoma cell-3""" APRO1, MGC126063, MGC126064, PC3, TIS21 Yes No Comparative Toxicogenomics Database:7832, Ensembl:ENSG00000159388, GenAtlas:BTG2, GeneCard:BTG2, HGNC:HGNC:1131, HumanCyc Gene:HS08397, ModBase:P78543, NCBI Gene:7832, OMIM:601597, RefSeq DNA:NT_004487, RefSeq Protein:NP_006754, RefSeq RNA:NM_006763, UCSC Genome Browser:NM_006763, UniProtKB:P78543 No chr1 203274664 203278730 203305536 203309602 +PA25452 10950 HGNC:1132 ENSG00000154640 BTG anti-proliferation factor 3 BTG3 BTG family, member 3 ANA, ANA/BTG3, APRO4, tob55 Yes No Comparative Toxicogenomics Database:10950, Ensembl:ENSG00000154640, GenAtlas:BTG3, GeneCard:BTG3, HGNC:HGNC:1132, HumanCyc Gene:HS07994, ModBase:Q14201, NCBI Gene:10950, OMIM:605674, RefSeq DNA:NT_011512, RefSeq Protein:NP_001124386, RefSeq Protein:NP_006797, RefSeq RNA:NM_001130914, RefSeq RNA:NM_006806, UCSC Genome Browser:NM_006806, UniProtKB:Q14201, UniProtKB:Q6IAU3 No chr21 18965968 18985268 17593650 17612950 +PA25453 54766 HGNC:13862 ENSG00000137707 BTG anti-proliferation factor 4 BTG4 B-cell translocation gene 4 APRO3, PC3B Yes Yes Ensembl:ENSG00000137707, GenAtlas:BTG4, GeneCard:BTG4, HGNC:HGNC:13862, HumanCyc Gene:HS06377, ModBase:Q9NY30, NCBI Gene:54766, OMIM:605673, RefSeq DNA:NT_033899, RefSeq Protein:NP_060059, RefSeq RNA:NM_017589, UCSC Genome Browser:NM_017589, UniProtKB:Q8NEH7, UniProtKB:Q9NY30 No chr11 111338255 111383105 111383828 111512388 +PA25454 695 HGNC:1133 ENSG00000010671 Bruton tyrosine kinase BTK Bruton agammaglobulinemia tyrosine kinase, Bruton's tyrosine kinase AGMX1, ATK, IMD1, PSCTK1, XLA Yes No Comparative Toxicogenomics Database:695, Ensembl:ENSG00000010671, GenAtlas:BTK, GeneCard:BTK, HGNC:HGNC:1133, HumanCyc Gene:HS00290, ModBase:Q06187, NCBI Gene:695, OMIM:300300, OMIM:300755, OMIM:307200, RefSeq DNA:NG_009616, RefSeq DNA:NT_011651, RefSeq Protein:NP_000052, RefSeq RNA:NM_000061, UCSC Genome Browser:NM_000061, UniProtKB:Q06187, UniProtKB:Q5JY90 No chrX 100604435 100641212 101349447 101390796 +PA134968341 151888 HGNC:21087 ENSG00000186265 B and T lymphocyte associated BTLA BTLA1, CD272 Yes No Ensembl:ENSG00000186265, GeneCard:BTLA, HGNC:HGNC:21087, ModBase:Q7Z6A9, NCBI Gene:151888, OMIM:607925, RefSeq DNA:NT_005612, RefSeq Protein:NP_001078826, RefSeq Protein:NP_861445, RefSeq RNA:NM_001085357, RefSeq RNA:NM_181780, UniProtKB:Q3HS85, UniProtKB:Q7Z6A9 No chr3 112182813 112218438 112458790 112499756 +PA25455 696 HGNC:1135 ENSG00000124557 butyrophilin subfamily 1 member A1 BTN1A1 butyrophilin, subfamily 1, member A1 BT, BTN, BTN1 Yes No Ensembl:ENSG00000124557, GenAtlas:BTN1A1, GeneCard:BTN1A1, HGNC:HGNC:1135, HumanCyc Gene:HS04791, ModBase:Q13410, NCBI Gene:696, OMIM:601610, RefSeq DNA:NT_007592, RefSeq Protein:NP_001723, RefSeq RNA:NM_001732, UCSC Genome Browser:NM_001732, UniProtKB:Q13410, UniProtKB:Q4VAN2 No chr6 26500577 26510653 26499290 26510425 +PA25456 11120 HGNC:1136 ENSG00000112763 butyrophilin subfamily 2 member A1 BTN2A1 butyrophilin, subfamily 2, member A1 BT2.1, BTF1, BTN2.1 Yes No Ensembl:ENSG00000112763, GenAtlas:BTN2A1, GeneCard:BTN2A1, HGNC:HGNC:1136, HumanCyc Gene:HS03618, ModBase:Q7KYR7, NCBI Gene:11120, RefSeq DNA:NT_007592, RefSeq Protein:NP_001184162, RefSeq Protein:NP_001184163, RefSeq Protein:NP_008980, RefSeq Protein:NP_510961, RefSeq RNA:NM_001197233, RefSeq RNA:NM_001197234, RefSeq RNA:NM_007049, RefSeq RNA:NM_078476, UCSC Genome Browser:NM_007049, UniProtKB:Q7KYR7, UniProtKB:Q96AV7 No chr6 26458132 26476849 26457904 26476621 +PA25457 10385 HGNC:1137 ENSG00000124508 butyrophilin subfamily 2 member A2 BTN2A2 butyrophilin, subfamily 2, member A2 BT2.2, BTF2, BTN2.2 Yes No Comparative Toxicogenomics Database:10385, Ensembl:ENSG00000124508, GenAtlas:BTN2A2, GeneCard:BTN2A2, HGNC:HGNC:1137, HumanCyc Gene:HS13133, ModBase:Q8WVV5, NCBI Gene:10385, RefSeq DNA:NT_007592, RefSeq Protein:NP_001184166, RefSeq Protein:NP_001184167, RefSeq Protein:NP_001184168, RefSeq Protein:NP_001184169, RefSeq Protein:NP_008926, RefSeq Protein:NP_853509, RefSeq RNA:NM_001197237, RefSeq RNA:NM_001197238, RefSeq RNA:NM_001197239, RefSeq RNA:NM_001197240, RefSeq RNA:NM_006995, RefSeq RNA:NM_181531, UCSC Genome Browser:NM_006995, UniProtKB:A6NM84, UniProtKB:Q8WVV5 No chr6 26383111 26395102 26382891 26394874 +PA25458 54718 HGNC:13229 ENSG00000124549 butyrophilin, subfamily 2, member A3, pseudogene BTN2A3P Yes No Ensembl:ENSG00000124549, GenAtlas:BTN2A3, GeneCard:BTN2A3P, HGNC:HGNC:13229, HumanCyc Gene:HS13135, ModBase:Q96KV6, NCBI Gene:54718, RefSeq DNA:NT_007592, RefSeq Protein:NP_076923, RefSeq RNA:NM_024018, RefSeq RNA:NR_027795, UCSC Genome Browser:NM_024018 No chr6 26421619 26430816 26421391 26430588 +PA25459 11119 HGNC:1138 ENSG00000026950 butyrophilin subfamily 3 member A1 BTN3A1 butyrophilin, subfamily 3, member A1 BT3.1, BTF5, BTN3.1, CD277 Yes No Ensembl:ENSG00000026950, GenAtlas:BTN3A1, GeneCard:BTN3A1, HGNC:HGNC:1138, HumanCyc Gene:HS00454, ModBase:O00481, NCBI Gene:11119, RefSeq DNA:NT_007592, RefSeq Protein:NP_001138480, RefSeq Protein:NP_001138481, RefSeq Protein:NP_008979, RefSeq Protein:NP_919423, RefSeq RNA:NM_001145008, RefSeq RNA:NM_001145009, RefSeq RNA:NM_007048, RefSeq RNA:NM_194441, UCSC Genome Browser:NM_007048, UniProtKB:A8K547, UniProtKB:B4DIQ1, UniProtKB:B4DRM2, UniProtKB:O00481 No chr6 26402465 26415444 26402237 26415216 +PA25460 11118 HGNC:1139 ENSG00000186470 butyrophilin subfamily 3 member A2 BTN3A2 butyrophilin, subfamily 3, member A2 BTN3.2 Yes No Ensembl:ENSG00000186470, GenAtlas:BTN3A2, GeneCard:BTN3A2, HGNC:HGNC:1139, HumanCyc Gene:HS03469, ModBase:P78410, NCBI Gene:11118, RefSeq DNA:NT_007592, RefSeq Protein:NP_001184175, RefSeq Protein:NP_001184176, RefSeq Protein:NP_001184177, RefSeq Protein:NP_001184178, RefSeq Protein:NP_008978, RefSeq RNA:NM_001197246, RefSeq RNA:NM_001197247, RefSeq RNA:NM_001197248, RefSeq RNA:NM_001197249, RefSeq RNA:NM_007047, UCSC Genome Browser:NM_007047, UniProtKB:P78410 No chr6 26365387 26378548 26365159 26451697 +PA25461 10384 HGNC:1140 ENSG00000111801 butyrophilin subfamily 3 member A3 BTN3A3 butyrophilin, subfamily 3, member A3 BTF3, BTN3.3 Yes No Comparative Toxicogenomics Database:10384, Ensembl:ENSG00000111801, GenAtlas:BTN3A3, GeneCard:BTN3A3, HGNC:HGNC:1140, HumanCyc Gene:HS04792, ModBase:O00478, NCBI Gene:10384, RefSeq DNA:NT_007592, RefSeq Protein:NP_001229732, RefSeq Protein:NP_008925, RefSeq Protein:NP_932078, RefSeq RNA:NM_001242803, RefSeq RNA:NM_006994, RefSeq RNA:NM_197974, UCSC Genome Browser:NM_006994, UniProtKB:B4DWI7, UniProtKB:O00478 No chr6 26440700 26453643 26440472 26453415 +PA166049085 100129094 HGNC:42540 ENSG00000215811 butyrophilin-like 10 BTNL10 Yes No Ensembl:ENSG00000215811, HGNC:HGNC:42540, NCBI Gene:100129094 No chr1 228698060 228699699 228508026 228514040 +PA25463 56244 HGNC:1142 ENSG00000204290, ENSG00000224770, ENSG00000226127, ENSG00000229597, ENSG00000229741 butyrophilin like 2 BTNL2 butyrophilin-like 2 (MHC class II associated) BTL-II, BTN7, HSBLMHC1 Yes No Comparative Toxicogenomics Database:56244, Ensembl:ENSG00000204290, Ensembl:ENSG00000224770, Ensembl:ENSG00000226127, Ensembl:ENSG00000229597, Ensembl:ENSG00000229741, GenAtlas:BTNL2, GeneCard:BTNL2, HGNC:HGNC:1142, ModBase:Q5SU36, NCBI Gene:56244, OMIM:181000, OMIM:606000, OMIM:612387, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_062548, RefSeq RNA:NM_019602, UCSC Genome Browser:NM_019602, UniProtKB:Q9UIR0 No chr6 32362513 32374900 32393339 32408879 +PA25464 10917 HGNC:1143 ENSG00000168903 butyrophilin like 3 BTNL3 butyrophilin-like 3, butyrophilin-like receptor BTN9.1, BTNLR Yes No Ensembl:ENSG00000168903, GenAtlas:BTNL3, GeneCard:BTNL3, HGNC:HGNC:1143, HumanCyc Gene:HS09846, ModBase:Q6UXE8, NCBI Gene:10917, OMIM:606192, RefSeq DNA:NT_023133, RefSeq Protein:NP_932079, RefSeq RNA:NM_197975, UCSC Genome Browser:NM_006707, UniProtKB:Q6UXE8 No chr5 180415845 180433727 180988845 181006727 +PA134918466 79908 HGNC:26131 ENSG00000113303 butyrophilin like 8 BTNL8 butyrophilin-like 8 BTN9.2, FLJ21458 Yes No Ensembl:ENSG00000113303, GeneCard:BTNL8, HGNC:HGNC:26131, HumanCyc Gene:HS12792, ModBase:Q6UX41, NCBI Gene:79908, RefSeq DNA:NT_023133, RefSeq Protein:NP_001035552, RefSeq Protein:NP_001153179, RefSeq Protein:NP_001153180, RefSeq Protein:NP_001153181, RefSeq Protein:NP_001153182, RefSeq Protein:NP_079126, RefSeq RNA:NM_001040462, RefSeq RNA:NM_001159707, RefSeq RNA:NM_001159708, RefSeq RNA:NM_001159709, RefSeq RNA:NM_001159710, RefSeq RNA:NM_024850, UniProtKB:A4QMZ8, UniProtKB:B7Z409, UniProtKB:B7Z5B1, UniProtKB:Q6UX41 No chr5 180326077 180377906 180899077 180952166 +PA134945306 153579 HGNC:24176 ENSG00000165810 butyrophilin like 9 BTNL9 butyrophilin-like 9 BTN8, FLJ32535 Yes No Comparative Toxicogenomics Database:153579, Ensembl:ENSG00000165810, GeneCard:BTNL9, HGNC:HGNC:24176, HumanCyc Gene:HS15369, ModBase:Q6UXG8, NCBI Gene:153579, RefSeq DNA:NT_023133, RefSeq Protein:NP_689760, RefSeq RNA:NM_152547, UniProtKB:Q6UXG8, UniProtKB:Q8N324 No chr5 180467203 180488523 181039875 181061525 +PA25465 8945 HGNC:1144 ENSG00000166167 beta-transducin repeat containing E3 ubiquitin protein ligase BTRC FBXW1A, Fwd1, bTrCP, bTrCP1, beta-TrCP1, betaTrCP Yes Yes Comparative Toxicogenomics Database:8945, Ensembl:ENSG00000166167, GenAtlas:BTRC, GeneCard:BTRC, HGNC:HGNC:1144, HumanCyc Gene:HS08043, ModBase:Q9Y297, NCBI Gene:8945, OMIM:603482, RefSeq DNA:NG_009234, RefSeq DNA:NT_030059, RefSeq Protein:NP_003930, RefSeq Protein:NP_378663, RefSeq RNA:NM_003939, RefSeq RNA:NM_033637, UCSC Genome Browser:NM_003939, UniProtKB:Q5W141, UniProtKB:Q9Y297 No chr10 103113790 103317078 101353808 101557321 +PA81 699 HGNC:1148 ENSG00000169679 BUB1 mitotic checkpoint serine/threonine kinase BUB1 BUB1A, BUB1L, hBUB1 Yes No Comparative Toxicogenomics Database:699, Ensembl:ENSG00000169679, GenAtlas:BUB1, GeneCard:BUB1, HGNC:HGNC:1148, HumanCyc Gene:HS09986, ModBase:O43683, NCBI Gene:699, OMIM:602452, RefSeq DNA:NG_012048, RefSeq DNA:NT_022135, RefSeq Protein:NP_004327, RefSeq RNA:NM_004336, UCSC Genome Browser:NM_004336, UniProtKB:O43683, UniProtKB:Q53QE4 No chr2 111395275 111435684 110637698 110678107 +PA82 701 HGNC:1149 ENSG00000156970 BUB1 mitotic checkpoint serine/threonine kinase B BUB1B BUBR1, Bub1A, MAD3L, SSK1 Yes No Comparative Toxicogenomics Database:701, Ensembl:ENSG00000156970, GenAtlas:BUB1B, GeneCard:BUB1B, HGNC:HGNC:1149, HumanCyc Gene:HS08163, ModBase:Q59HH6, NCBI Gene:701, OMIM:114500, OMIM:176430, OMIM:257300, OMIM:602860, RefSeq DNA:NG_016338, RefSeq DNA:NT_010194, RefSeq Protein:NP_001202, RefSeq RNA:NM_001211, UCSC Genome Browser:NM_001211, UniProtKB:O60566 No chr15 40453210 40513337 40161009 40221136 +PA25467 9184 HGNC:1151 ENSG00000154473 BUB3 mitotic checkpoint protein BUB3 """BUB3 mitotic checkpoint protein"", ""BUB3, mitotic checkpoint protein""" BUB3L Yes No Comparative Toxicogenomics Database:9184, Ensembl:ENSG00000154473, GenAtlas:BUB3, GeneCard:BUB3, HGNC:HGNC:1151, HumanCyc Gene:HS07981, ModBase:O43684, NCBI Gene:9184, OMIM:603719, RefSeq DNA:NT_030059, RefSeq Protein:NP_001007794, RefSeq Protein:NP_004716, RefSeq RNA:NM_001007793, RefSeq RNA:NM_004725, UCSC Genome Browser:NM_004725, UniProtKB:O43684 No chr10 124913760 124924886 123154244 123165370 +PA144596512 84811 HGNC:28199 ENSG00000137656 BUD13 homolog BUD13 BUD13 homolog (S. cerevisiae), functional spliceosome-associated protein 71 Cwc26, MGC13125, fSAP71 Yes No Comparative Toxicogenomics Database:84811, Ensembl:ENSG00000137656, GeneCard:BUD13, HGNC:HGNC:28199, HumanCyc Gene:HS13689, ModBase:Q9BRD0, NCBI Gene:84811, RefSeq DNA:NT_033899, RefSeq Protein:NP_001153208, RefSeq Protein:NP_116114, RefSeq RNA:NM_001159736, RefSeq RNA:NM_032725, UniProtKB:Q9BRD0 No chr11 116618886 116643714 116748170 116772998 +PA38133 114049 HGNC:16405 ENSG00000071462 BUD23 rRNA methyltransferase and ribosome maturation factor BUD23 """BUD23, rRNA methyltransferase and ribosome maturation factor"", ""Williams Beuren syndrome chromosome region 22"", ""metastasis-related methyltransferase 1""" MERM1, MGC19709, MGC2022, MGC5140, PP3381, WBMT, WBSCR22 Yes No Comparative Toxicogenomics Database:114049, Ensembl:ENSG00000071462, GenAtlas:WBSCR22, GeneCard:WBSCR22, HGNC:HGNC:16405, HumanCyc Gene:HS01031, ModBase:O43709, NCBI Gene:114049, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001189489, RefSeq Protein:NP_059998, RefSeq RNA:NM_001202560, RefSeq RNA:NM_017528, RefSeq RNA:NR_037776, UCSC Genome Browser:NM_017528, UniProtKB:A8K501, UniProtKB:O43709 No chr7 73097898 73112551 73683568 73698221 +PA144596513 8896 HGNC:29629 ENSG00000106245 BUD31 homolog BUD31 BUD31 homolog (S. cerevisiae), G10 maternal transcript homolog (Xenopus laevis), functional spliceosome-associated protein 17 Cwc14, EDG-2, EDG2, G10, YCR063W, fSAP17 Yes No Ensembl:ENSG00000106245, GeneCard:BUD31, HGNC:HGNC:29629, HumanCyc Gene:HS02874, NCBI Gene:8896, OMIM:603477, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_003901, RefSeq RNA:NM_003910, UniProtKB:P41223 No chr7 99006243 99017239 99408620 99419616 +PA134909137 154442 HGNC:21223 ENSG00000203808 BVES antisense RNA 1 BVES-AS1 bA99L11.2 Yes No Ensembl:ENSG00000203808, GeneCard:C6orf112, HGNC:HGNC:21223, NCBI Gene:154442, RefSeq RNA:NR_037157 No chr6 105585562 105617820 105137687 105169945 +PA25470 700 HGNC:1153 Burkitt lymphoma variant rearranging region 1 BVR1 Yes No GenAtlas:BVR1, GeneCard:BVR1, HGNC:HGNC:1153, NCBI Gene:700 No chr8 +PA25472 705 HGNC:1157 ENSG00000112578 bystin like BYSL bystin-like Enp1 Yes No Comparative Toxicogenomics Database:705, Ensembl:ENSG00000112578, GenAtlas:BYSL, GeneCard:BYSL, HGNC:HGNC:1157, HumanCyc Gene:HS03591, ModBase:Q13895, NCBI Gene:705, OMIM:603871, RefSeq DNA:NT_007592, RefSeq Protein:NP_004044, RefSeq RNA:NM_004053, UCSC Genome Browser:NM_004053, UniProtKB:Q13895 No chr6 41888965 41900784 41921227 41933046 +PA38535 9689 HGNC:18380 ENSG00000082153 basic leucine zipper and W2 domains 1 BZW1 eIF5-mimic protein 2 5MP2, BZAP45, KIAA0005 Yes No Comparative Toxicogenomics Database:9689, Ensembl:ENSG00000082153, GenAtlas:BZW1, GeneCard:BZW1, HGNC:HGNC:18380, HumanCyc Gene:HS01414, ModBase:Q7L1Q6, NCBI Gene:9689, RefSeq DNA:NT_005403, RefSeq Protein:NP_001193996, RefSeq Protein:NP_001193997, RefSeq Protein:NP_001193998, RefSeq Protein:NP_055485, RefSeq RNA:NM_001207067, RefSeq RNA:NM_001207068, RefSeq RNA:NM_001207069, RefSeq RNA:NM_014670, UCSC Genome Browser:NM_014670, UniProtKB:Q7L1Q6 No chr2 201676262 201688569 200811546 200823851 +PA142672534 391592 HGNC:31378 ENSG00000236686 basic leucine zipper and W2 domains 1 pseudogene 1 BZW1P1 Yes No Ensembl:ENSG00000236686, GeneCard:BZW1P1, HGNC:HGNC:31378, NCBI Gene:391592, RefSeq DNA:NG_008827, RefSeq DNA:NT_005612 No chr3 172141985 172144887 172424195 172427097 +PA38690 28969 HGNC:18808 ENSG00000136261 basic leucine zipper and W2 domains 2 BZW2 eIF5-mimic protein 1 5MP1, HSPC028, MST017, MSTP017 Yes No Comparative Toxicogenomics Database:28969, Ensembl:ENSG00000136261, GenAtlas:BZW2, GeneCard:BZW2, HGNC:HGNC:18808, HumanCyc Gene:HS06140, ModBase:Q9Y6E2, NCBI Gene:28969, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001153239, RefSeq Protein:NP_054757, RefSeq RNA:NM_001159767, RefSeq RNA:NM_001362717, RefSeq RNA:NM_014038, UCSC Genome Browser:NM_014038, UniProtKB:Q9Y6E2 No chr7 16685759 16746148 16646134 16706523 +PA134923659 414152 HGNC:20304 ENSG00000214688 chromosome 10 open reading frame 105 C10orf105 FLJ00245 Yes No Ensembl:ENSG00000214688, GeneCard:C10orf105, HGNC:HGNC:20304, NCBI Gene:414152, RefSeq DNA:NT_030059, RefSeq Protein:NP_001157847, RefSeq Protein:NP_001161862, RefSeq Protein:XP_001715821, RefSeq Protein:XP_001716092, RefSeq Protein:XP_001723341, RefSeq RNA:NM_001164375, RefSeq RNA:NM_001168390, RefSeq RNA:XM_001715769, RefSeq RNA:XM_001716040, RefSeq RNA:XM_001723289, UniProtKB:Q8TEF2 No chr10 73471458 73497581 71711701 71737824 +PA134871711 399814 HGNC:25707 ENSG00000183559 chromosome 10 open reading frame 120 C10orf120 bA318C4.1 Yes No Ensembl:ENSG00000183559, GeneCard:C10orf120, HGNC:HGNC:25707, NCBI Gene:399814, RefSeq DNA:NT_030059, RefSeq Protein:NP_001010912, RefSeq RNA:NM_001010912, UniProtKB:Q5SQS8 No chr10 124457225 124459338 122697709 122699822 +PA134979977 283080 HGNC:28693 chromosome 10 open reading frame 126 C10orf126 MGC45541, bA492M23.1 Yes No GeneCard:C10orf126, HGNC:HGNC:28693, HumanCyc Gene:HS16546, NCBI Gene:283080 No chr10 29135337 29170827 28846408 28881898 +PA166180574 387723 HGNC:48677 ENSG00000237489 chromosome 10 open reading frame 143 C10orf143 LINC00959 Yes No Ensembl:ENSG00000237489, HGNC:HGNC:48677, NCBI Gene:387723 No 0 0 0 0 +PA134895627 282966 HGNC:27421 ENSG00000178645 chromosome 10 open reading frame 53 C10orf53 Em:AC069546.1 Yes No Ensembl:ENSG00000178645, GeneCard:C10orf53, HGNC:HGNC:27421, NCBI Gene:282966, RefSeq DNA:NT_030059, RefSeq Protein:NP_001035892, RefSeq Protein:NP_872360, RefSeq RNA:NM_001042427, RefSeq RNA:NM_182554, UniProtKB:B9ZVK6, UniProtKB:Q8N6V4 No chr10 50887684 50916956 49679638 49708910 +PA134866694 414236 HGNC:31008 ENSG00000222047 chromosome 10 open reading frame 55 C10orf55 bA417O11.3 Yes No Ensembl:ENSG00000222047, GeneCard:C10orf55, HGNC:HGNC:31008, NCBI Gene:414236, RefSeq DNA:NT_030059, RefSeq Protein:NP_001001791, RefSeq RNA:NM_001001791, UniProtKB:Q5SWW7 No chr10 75669727 75682535 73909969 73922777 +PA134924151 414157 HGNC:23294 ENSG00000203942 chromosome 10 open reading frame 62 C10orf62 bA548K23.1 Yes No Ensembl:ENSG00000203942, GeneCard:C10orf62, HGNC:HGNC:23294, NCBI Gene:414157, RefSeq DNA:NT_030059, RefSeq Protein:NP_001009997, RefSeq RNA:NM_001009997, UniProtKB:Q5T681 No chr10 99349450 99350691 97589693 97590934 +PA134915530 256815 HGNC:28716 ENSG00000179133 chromosome 10 open reading frame 67 C10orf67 C10orf115, LINC01552, MGC46732, bA215C7.4 Yes No Comparative Toxicogenomics Database:256815, Ensembl:ENSG00000179133, GeneCard:C10orf67, HGNC:HGNC:28716, HumanCyc Gene:HS17208, ModBase:Q8IYJ2, NCBI Gene:256815, RefSeq DNA:NT_008705, RefSeq Protein:NP_714925, RefSeq RNA:NM_153714, UniProtKB:Q8IYJ2 No chr10 23605520 23633772 23202851 23345216 +PA134920715 118461 HGNC:26973 ENSG00000177354 chromosome 10 open reading frame 71 C10orf71 cardiac enriched FHL2 interacting protein CEFIP, FLJ45913 Yes No Ensembl:ENSG00000177354, GeneCard:C10orf71, HGNC:HGNC:26973, NCBI Gene:118461, RefSeq DNA:NT_030059, RefSeq Protein:NP_001128668, RefSeq Protein:NP_955629, RefSeq RNA:NM_001135196, RefSeq RNA:NM_199459, UniProtKB:Q711Q0 No chr10 50505118 50535537 49297009 49330145 +PA134993933 80007 HGNC:25822 ENSG00000119965 chromosome 10 open reading frame 88 C10orf88 protein associated with ABC transporters Em:AC073585.5, FLJ13490, PAAT Yes No Ensembl:ENSG00000119965, GeneCard:C10orf88, HGNC:HGNC:25822, HumanCyc Gene:HS04356, ModBase:Q9H8K7, NCBI Gene:80007, RefSeq DNA:NT_030059, RefSeq Protein:NP_079218, RefSeq RNA:NM_024942, UniProtKB:Q9H8K7 No chr10 124690419 124713919 122930903 122954403 +PA134895930 118611 HGNC:26563 ENSG00000154493 chromosome 10 open reading frame 90 C10orf90 fragile-site associated tumor suppressor FATS, FLJ32938, bA422P15.2 Yes No Ensembl:ENSG00000154493, GeneCard:C10orf90, HGNC:HGNC:26563, ModBase:Q96M02, NCBI Gene:118611, RefSeq DNA:NT_030059, RefSeq Protein:NP_001004298, RefSeq RNA:NM_001004298, UniProtKB:Q96M02 No chr10 128113566 128213444 126424997 126671038 +PA134908188 79946 HGNC:25880 ENSG00000120055 chromosome 10 open reading frame 95 C10orf95 FLJ14280 Yes No Ensembl:ENSG00000120055, GeneCard:C10orf95, HGNC:HGNC:25880, HumanCyc Gene:HS12975, ModBase:Q9H7T3, NCBI Gene:79946, RefSeq DNA:NT_030059, RefSeq Protein:NP_079162, RefSeq RNA:NM_024886, UniProtKB:Q9H7T3 No chr10 104209594 104211300 102449837 102451543 +PA25483 56673 HGNC:1169 ENSG00000176029 chromosome 11 open reading frame 16 C11orf16 Yes No Ensembl:ENSG00000176029, GenAtlas:C11orf16, GeneCard:C11orf16, HGNC:HGNC:1169, HumanCyc Gene:HS16569, NCBI Gene:56673, RefSeq DNA:NT_009237, RefSeq Protein:NP_065694, RefSeq RNA:NM_020643, UCSC Genome Browser:NM_020643 No chr11 8941623 8954553 8920076 8933006 +PA25486 29125 HGNC:13231 ENSG00000110665 chromosome 11 open reading frame 21 C11orf21 Yes No Ensembl:ENSG00000110665, GenAtlas:C11orf21, GeneCard:C11orf21, HGNC:HGNC:13231, HumanCyc Gene:HS12725, NCBI Gene:29125, OMIM:611033, RefSeq DNA:NT_009237, RefSeq Protein:NP_001136418, RefSeq RNA:NM_001142946, RefSeq RNA:NR_024621, UCSC Genome Browser:NM_014144, UniProtKB:Q9P2W6 No chr11 2317507 2323143 2296277 2301913 +PA25488 53838 HGNC:1174 ENSG00000171067 chromosome 11 open reading frame 24 C11orf24 DM4E3 Yes No Ensembl:ENSG00000171067, GenAtlas:C11orf24, GeneCard:C11orf24, HGNC:HGNC:1174, HumanCyc Gene:HS15946, ModBase:Q96F05, NCBI Gene:53838, OMIM:610880, RefSeq DNA:NT_167190, RefSeq Protein:NP_071733, RefSeq RNA:NM_022338, UCSC Genome Browser:NM_022338, UniProtKB:Q96F05 No chr11 68028803 68039469 68261335 68272001 +PA166352345 HGNC:14532 chromosome 11 open reading frame 26 C11orf26 Yes No HGNC:HGNC:14532 No 0 0 0 0 +PA142672300 143501 HGNC:23986 ENSG00000171987 chromosome 11 open reading frame 40 C11orf40 NOV1 Yes No Ensembl:ENSG00000171987, GeneCard:C11orf40, HGNC:HGNC:23986, HumanCyc Gene:HS16046, ModBase:Q8WZ69, NCBI Gene:143501, RefSeq DNA:NT_009237, RefSeq Protein:NP_653264, RefSeq RNA:NM_144663, UniProtKB:Q8WZ69 No chr11 4592653 4599050 4571423 4577820 +PA142672287 160298 HGNC:28541 ENSG00000180878 chromosome 11 open reading frame 42 C11orf42 MGC34805 Yes No Ensembl:ENSG00000180878, GeneCard:C11orf42, HGNC:HGNC:28541, HumanCyc Gene:HS17585, NCBI Gene:160298, RefSeq DNA:NT_009237, RefSeq Protein:NP_775796, RefSeq RNA:NM_173525, UniProtKB:Q8N5U0 No chr11 6226798 6232365 6202997 6226783 +PA143485347 91894 HGNC:30531 ENSG00000149300 chromosome 11 open reading frame 52 C11orf52 FLJ25219, MGC14839 Yes No Ensembl:ENSG00000149300, GeneCard:C11orf52, HGNC:HGNC:30531, HumanCyc Gene:HS14276, NCBI Gene:91894, RefSeq DNA:NT_033899, RefSeq Protein:NP_542390, RefSeq RNA:NM_080659, UniProtKB:Q96A22 No chr11 111789601 111797595 111918877 111926871 +PA143485349 28970 HGNC:30204 ENSG00000182919 chromosome 11 open reading frame 54 C11orf54 MEEP, PTD012 Yes No Comparative Toxicogenomics Database:28970, Ensembl:ENSG00000182919, GeneCard:C11orf54, HGNC:HGNC:30204, NCBI Gene:28970, RefSeq DNA:NT_167190, RefSeq Protein:NP_054758, RefSeq RNA:NM_014039, UniProtKB:Q9H0W9 No chr11 93474769 93496250 93741594 93765323 +PA143485353 10944 HGNC:16990 ENSG00000110696 chromosome 11 open reading frame 58 C11orf58 small acidic protein SMAP Yes No Ensembl:ENSG00000110696, GeneCard:C11orf58, HGNC:HGNC:16990, HumanCyc Gene:HS03327, ModBase:O00193, NCBI Gene:10944, RefSeq DNA:NT_009237, RefSeq Protein:NP_001136177, RefSeq Protein:NP_055082, RefSeq RNA:NM_001142705, RefSeq RNA:NM_014267, UniProtKB:O00193 No chr11 16760148 16779901 16738601 16758354 +PA144596484 160140 HGNC:28519 ENSG00000166323 chromosome 11 open reading frame 65 C11orf65 mitochondrial fission factor interactor MFI, MGC33948 Yes Yes Ensembl:ENSG00000166323, GeneCard:C11orf65, HGNC:HGNC:28519, HumanCyc Gene:HS15428, ModBase:Q8NCR3, NCBI Gene:160140, RefSeq DNA:NT_033899, RefSeq Protein:NP_689800, RefSeq RNA:NM_152587, UniProtKB:Q8NCR3 No chr11 108179012 108338258 108307344 108469832 +PA144596487 83638 HGNC:28801 ENSG00000175573 chromosome 11 open reading frame 68 C11orf68 basophilic leukemia-expressed protein BLES03, P5326 Yes No Ensembl:ENSG00000175573, GeneCard:C11orf68, HGNC:HGNC:28801, HumanCyc Gene:HS16475, NCBI Gene:83638, RefSeq DNA:NT_167190, RefSeq Protein:NP_001129107, RefSeq Protein:NP_113638, RefSeq RNA:NM_001135635, RefSeq RNA:NM_031450, UniProtKB:Q9H3H3 No chr11 65684281 65686531 65916810 65919060 +PA144596490 54494 HGNC:25937 ENSG00000180425 chromosome 11 open reading frame 71 C11orf71 FLJ20010 Yes No Ensembl:ENSG00000180425, GeneCard:C11orf71, HGNC:HGNC:25937, HumanCyc Gene:HS17505, NCBI Gene:54494, RefSeq DNA:NT_033899, RefSeq Protein:NP_061894, RefSeq RNA:NM_019021, UniProtKB:Q6IPW1, UniProtKB:Q99865 No chr11 114262170 114271272 114391448 114400550 +PA162377813 254439 HGNC:34442 ENSG00000173237 chromosome 11 open reading frame 86 C11orf86 fasting and CREB-H induced FACI, FLJ22675 Yes No Ensembl:ENSG00000173237, GeneCard:C11orf86, HGNC:HGNC:34442, NCBI Gene:254439, RefSeq DNA:NT_167190, RefSeq Protein:NP_001129957, RefSeq RNA:NM_001136485, UniProtKB:A6NJI1 No chr11 66742754 66744479 66975283 66977008 +PA162377822 399947 HGNC:33788 ENSG00000185742 chromosome 11 open reading frame 87 C11orf87 neuronal integral membrane protein 1 LOC399947, LOH11CR1A, NEURIM1 Yes No Ensembl:ENSG00000185742, GeneCard:C11orf87, HGNC:HGNC:33788, ModBase:Q6NUJ2, NCBI Gene:399947, RefSeq DNA:NT_033899, RefSeq Protein:NP_997528, RefSeq RNA:NM_207645, UniProtKB:Q6NUJ2 No chr11 109292570 109299893 109422120 109433003 +PA164716759 100131378 HGNC:34444 ENSG00000205177 chromosome 11 open reading frame 91 C11orf91 Yes No Ensembl:ENSG00000205177, GeneCard:C11orf91, HGNC:HGNC:34444, NCBI Gene:100131378, RefSeq DNA:NT_009237, RefSeq Protein:NP_001160164, RefSeq Protein:XP_001717052, RefSeq Protein:XP_001717259, RefSeq Protein:XP_001717768, RefSeq RNA:NM_001166692, RefSeq RNA:XM_001717000, RefSeq RNA:XM_001717207, RefSeq RNA:XM_001717716, UniProtKB:Q3C1V1 No chr11 33719654 33722286 33698108 33703026 +PA165543281 387763 HGNC:38675 ENSG00000187479 chromosome 11 open reading frame 96 C11orf96 AG2 Yes No Ensembl:ENSG00000187479, GeneCard:C11orf96, HGNC:HGNC:38675, NCBI Gene:387763, RefSeq DNA:NT_009237, RefSeq Protein:NP_001138505, RefSeq RNA:NM_001145033, UniProtKB:Q7Z7L8 No chr11 43964106 43965433 43942556 43943883 +PA166180575 643037 HGNC:49544 ENSG00000257057 chromosome 11 open reading frame 97 C11orf97 LINC01171 Yes No Ensembl:ENSG00000257057, HGNC:HGNC:49544, NCBI Gene:643037 No 0 0 0 0 +PA166123671 102288414 HGNC:51238 ENSG00000278615 chromosome 11 open reading frame 98 C11orf98 C11orf48 Yes No Ensembl:ENSG00000278615, HGNC:HGNC:51238, NCBI Gene:102288414 No +PA143485372 374470 HGNC:24729 ENSG00000179088 chromosome 12 open reading frame 42 C12orf42 FLJ25323 Yes No Ensembl:ENSG00000179088, GeneCard:C12orf42, HGNC:HGNC:24729, NCBI Gene:374470, RefSeq DNA:NT_029419, RefSeq Protein:NP_001092806, RefSeq Protein:NP_940923, RefSeq RNA:NM_001099336, RefSeq RNA:NM_198521, UniProtKB:Q96LP6 No chr12 103631369 103889788 103047669 103525258 +PA143485373 64897 HGNC:25719 ENSG00000157895 chromosome 12 open reading frame 43 C12orf43 Custos, FLJ12448 Yes No Ensembl:ENSG00000157895, GeneCard:C12orf43, HGNC:HGNC:25719, HumanCyc Gene:HS14683, ModBase:Q96C57, NCBI Gene:64897, RefSeq DNA:NT_009775, RefSeq Protein:NP_075046, RefSeq RNA:NM_022895, UniProtKB:Q96C57 No chr12 121440835 121454300 121002422 121016502 +PA143485379 160419 HGNC:26665 ENSG00000165805 chromosome 12 open reading frame 50 C12orf50 FLJ35821 Yes No Ensembl:ENSG00000165805, GeneCard:C12orf50, HGNC:HGNC:26665, HumanCyc Gene:HS15367, ModBase:Q8NA57, NCBI Gene:160419, RefSeq DNA:NT_029419, RefSeq Protein:NP_689802, RefSeq RNA:NM_152589, UniProtKB:Q8NA57 No chr12 88373816 88423176 87980039 88029399 +PA143485383 121273 HGNC:28553 ENSG00000177627 chromosome 12 open reading frame 54 C12orf54 MGC35033 Yes No Ensembl:ENSG00000177627, GeneCard:C12orf54, HGNC:HGNC:28553, HumanCyc Gene:HS16889, NCBI Gene:121273, RefSeq DNA:NT_029419, RefSeq Protein:NP_689532, RefSeq RNA:NM_152319, UniProtKB:Q6X4T0 No chr12 48876283 48890297 48413154 48496514 +PA143485385 115749 HGNC:26967 ENSG00000185306 chromosome 12 open reading frame 56 C12orf56 Yes No Ensembl:ENSG00000185306, GeneCard:C12orf56, HGNC:HGNC:26967, NCBI Gene:115749, RefSeq DNA:NT_029419, RefSeq Protein:NP_001093146, RefSeq Protein:NP_001164104, RefSeq RNA:NM_001099676, RefSeq RNA:NM_001170633, UniProtKB:Q8IXR9 No chr12 64660763 64784345 64264762 64390580 +PA143485386 113246 HGNC:29521 ENSG00000111678 chromosome 12 open reading frame 57 C12orf57 gene rich cluster C10 gene C10, GRCC10 Yes No Ensembl:ENSG00000111678, GeneCard:C12orf57, HGNC:HGNC:29521, HumanCyc Gene:HS12745, NCBI Gene:113246, RefSeq DNA:NT_009759, RefSeq Protein:NP_612434, RefSeq RNA:NM_138425, UniProtKB:Q99622 No chr12 7052146 7055165 6943438 6946003 +PA143485389 144608 HGNC:28726 ENSG00000182993 chromosome 12 open reading frame 60 C12orf60 MGC47869 Yes No Ensembl:ENSG00000182993, GeneCard:C12orf60, HGNC:HGNC:28726, ModBase:Q5U649, NCBI Gene:144608, RefSeq DNA:NT_009714, RefSeq Protein:NP_787070, RefSeq RNA:NM_175874, UniProtKB:Q5U649 No chr12 14955997 14976792 14567991 14823858 +PA162378036 728858 HGNC:34452 ENSG00000214700 chromosome 12 open reading frame 71 C12orf71 LOC728858 Yes No Ensembl:ENSG00000214700, GeneCard:C12orf71, HGNC:HGNC:34452, NCBI Gene:728858, RefSeq DNA:NT_009714, RefSeq Protein:NP_001073875, RefSeq RNA:NM_001080406, UniProtKB:C9JLR2 No chr12 27233990 27235455 27081057 27084548 +PA164716815 387882 HGNC:35164 ENSG00000235162 chromosome 12 open reading frame 75 C12orf75 adipogenesis down-regulated 3, overexpressed in colon carcinoma 1 AGD3, OCC-1, OCC1 Yes No Ensembl:ENSG00000235162, GeneCard:C12orf75, HGNC:HGNC:35164, NCBI Gene:387882, RefSeq DNA:NT_029419, RefSeq Protein:NP_001138671, RefSeq RNA:NM_001145199, UniProtKB:Q8TAD7 No chr12 105724414 105765296 105330636 105371518 +PA165512406 400073 HGNC:33790 ENSG00000174456 chromosome 12 open reading frame 76 C12orf76 FLJ40142 Yes No Ensembl:ENSG00000174456, GeneCard:C12orf76, HGNC:HGNC:33790, NCBI Gene:400073, RefSeq DNA:NT_009775, RefSeq Protein:NP_997318, RefSeq RNA:NM_207435, UniProtKB:Q8N812 No chr12 110465401 110505500 110041177 110067695 +PA166352346 HGNC:39276 chromosome 13 open reading frame 41 C13orf41 Yes No HGNC:HGNC:39276 No 0 0 0 0 +PA166180577 647166 HGNC:42693 ENSG00000226792 chromosome 13 open reading frame 42 C13orf42 LINC00371 Yes No Ensembl:ENSG00000226792, HGNC:HGNC:42693, NCBI Gene:647166 No 0 0 0 0 +PA166180578 100507747 HGNC:53786 ENSG00000283199 chromosome 13 open reading frame 46 C13orf46 Yes No Ensembl:ENSG00000283199, HGNC:HGNC:53786, NCBI Gene:100507747 No 0 0 0 0 +PA166352352 HGNC:20216 chromosome 14 open reading frame 113 C14orf113 FLJ20034 Yes No HGNC:HGNC:20216 No 0 0 0 0 +PA134974692 55017 HGNC:20270 ENSG00000179933 chromosome 14 open reading frame 119 C14orf119 FLJ20671 Yes No Ensembl:ENSG00000179933, GeneCard:C14orf119, HGNC:HGNC:20270, HumanCyc Gene:HS17386, NCBI Gene:55017, RefSeq DNA:NT_026437, RefSeq Protein:NP_060394, RefSeq RNA:NM_017924, UniProtKB:Q9NWQ9 No chr14 23564683 23569665 23095474 23100456 +PA134860941 56967 HGNC:20346 ENSG00000227051 chromosome 14 open reading frame 132 C14orf132 C14orf88 Yes No Comparative Toxicogenomics Database:56967, Ensembl:ENSG00000227051, GeneCard:C14orf132, HGNC:HGNC:20346, ModBase:Q9NPU4, NCBI Gene:56967, RefSeq DNA:NT_026437, RefSeq RNA:NR_023938 No chr14 96505661 96560226 96039324 96093971 +PA166352353 HGNC:20350 chromosome 14 open reading frame 136 C14orf136 C14orf136 Yes No HGNC:HGNC:20350 No 0 0 0 0 +PA166352354 HGNC:20496 chromosome 14 open reading frame 157 C14orf157 FLJ12294 Yes No HGNC:HGNC:20496 No 0 0 0 0 +PA166352348 HGNC:19435 chromosome 14 open reading frame 16 C14orf16 Yes No HGNC:HGNC:19435 No 0 0 0 0 +PA145149665 283579 HGNC:26385 ENSG00000197734 chromosome 14 open reading frame 178 C14orf178 FLJ25976 Yes No Ensembl:ENSG00000197734, GeneCard:C14orf178, HGNC:HGNC:26385, NCBI Gene:283579, RefSeq DNA:NT_026437, RefSeq Protein:NP_001167449, RefSeq Protein:NP_777603, RefSeq RNA:NM_001173978, RefSeq RNA:NM_174943, UniProtKB:Q8N769 No chr14 78227173 78236085 77760830 77769742 +PA162378139 400258 HGNC:33795 ENSG00000184601 chromosome 14 open reading frame 180 C14orf180 nutritionally-regulated adipose and cardiac-enriched C14orf77, NRAC Yes No Ensembl:ENSG00000184601, GeneCard:C14orf180, HGNC:HGNC:33795, NCBI Gene:400258, RefSeq DNA:NT_026437, RefSeq Protein:NP_001008404, RefSeq RNA:NM_001008404, UniProtKB:Q8N912 No chr14 105046056 105056184 104579684 104589847 +PA166352355 HGNC:37224 chromosome 14 open reading frame 184 C14orf184 FLJ33842, PP8961 Yes No HGNC:HGNC:37224 No 0 0 0 0 +PA134923136 122525 HGNC:19834 ENSG00000179476 chromosome 14 open reading frame 28 C14orf28 dopamine receptor interacting protein 1 DRIP-1, DRIP1 Yes No Ensembl:ENSG00000179476, GeneCard:C14orf28, HGNC:HGNC:19834, HumanCyc Gene:HS17289, NCBI Gene:122525, RefSeq DNA:NT_026437, RefSeq Protein:NP_001017923, RefSeq RNA:NM_001017923, UniProtKB:Q4W4Y0 No chr14 45366433 45376460 44897304 44907257 +PA134950036 317761 HGNC:19849 ENSG00000179008 chromosome 14 open reading frame 39 C14orf39 SIX6OS1 Yes No Ensembl:ENSG00000179008, GeneCard:C14orf39, HGNC:HGNC:19849, HumanCyc Gene:HS17175, ModBase:Q8N1H7, NCBI Gene:317761, RefSeq DNA:NT_026437, RefSeq Protein:NP_777638, RefSeq RNA:NM_174978, UniProtKB:Q08AQ4 No chr14 60902674 60952764 60435954 60499773 +PA166352349 HGNC:19850 chromosome 14 open reading frame 40 C14orf40 Yes No HGNC:HGNC:19850 No 0 0 0 0 +PA166352350 HGNC:20104 chromosome 14 open reading frame 57 C14orf57 Yes No HGNC:HGNC:20104 No 0 0 0 0 +PA166352351 HGNC:20112 chromosome 14 open reading frame 65 C14orf65 C14orf136 Yes No HGNC:HGNC:20112 No 0 0 0 0 +PA166352347 HGNC:19284 chromosome 14 open reading frame 7 C14orf7 Yes No HGNC:HGNC:19284 No 0 0 0 0 +PA134982493 60686 HGNC:20162 ENSG00000100802 chromosome 14 open reading frame 93 C14orf93 regulator of thyroid function and cancer FLJ12154, RTFC Yes No Ensembl:ENSG00000100802, GeneCard:C14orf93, HGNC:HGNC:20162, HumanCyc Gene:HS12427, NCBI Gene:60686, RefSeq DNA:NT_026437, RefSeq Protein:NP_001124178, RefSeq Protein:NP_001124180, RefSeq Protein:NP_068763, RefSeq RNA:NM_001130706, RefSeq RNA:NM_001130708, RefSeq RNA:NM_021944, UniProtKB:Q9H972 No chr14 23456110 23479375 22986901 23010201 +PA166352356 HGNC:21692 chromosome 15 open reading frame 31 C15orf31 6H9A Yes No HGNC:HGNC:21692 No 0 0 0 0 +PA142672268 145858 HGNC:26549 ENSG00000183643 chromosome 15 open reading frame 32 C15orf32 FLJ32831 Yes No Ensembl:ENSG00000183643, GeneCard:C15orf32, HGNC:HGNC:26549, NCBI Gene:145858, RefSeq DNA:NT_010274, RefSeq Protein:NP_694585, RefSeq RNA:NM_153040, UniProtKB:Q32M92 No chr15 93014907 93044347 92465762 92501117 +PA142672275 56905 HGNC:24497 ENSG00000167173 chromosome 15 open reading frame 39 C15orf39 DKFZP434H132, FLJ46337 Yes No Ensembl:ENSG00000167173, GeneCard:C15orf39, HGNC:HGNC:24497, ModBase:Q6ZRI6, NCBI Gene:56905, RefSeq DNA:NT_010194, RefSeq Protein:NP_056307, RefSeq RNA:NM_015492, UniProtKB:Q6ZRI6 No chr15 75491219 75504510 75201880 75212169 +PA142672276 123207 HGNC:28443 ENSG00000169609 chromosome 15 open reading frame 40 C15orf40 MGC29937 Yes No Ensembl:ENSG00000169609, GeneCard:C15orf40, HGNC:HGNC:28443, HumanCyc Gene:HS15792, ModBase:Q8WUR7, NCBI Gene:123207, RefSeq DNA:NT_077661, RefSeq Protein:NP_001153585, RefSeq Protein:NP_001153586, RefSeq Protein:NP_001153587, RefSeq Protein:NP_001153588, RefSeq Protein:NP_653198, RefSeq RNA:NM_001160113, RefSeq RNA:NM_001160114, RefSeq RNA:NM_001160115, RefSeq RNA:NM_001160116, RefSeq RNA:NM_144597, RefSeq RNA:NR_027649, RefSeq RNA:NR_027650, UniProtKB:Q8WUR7 No chr15 83657715 83681050 82988297 83012298 +PA142672265 84419 HGNC:29898 ENSG00000166920 chromosome 15 open reading frame 48 C15orf48 MIR147B host gene, cytochrome c oxidase subunit FA4 like 3, mitochondrial stress response antiviral, modulator of cytochrome C oxidase during inflammation, normal mucosa of esophagus specific 1 COXFA4L3, MIR147BHG, MISTRAV, MOCCI, NMES1 Yes No Comparative Toxicogenomics Database:84419, Ensembl:ENSG00000166920, GeneCard:C15orf48, HGNC:HGNC:29898, HumanCyc Gene:HS15502, NCBI Gene:84419, OMIM:608409, RefSeq DNA:NT_010194, RefSeq Protein:NP_115789, RefSeq Protein:NP_922946, RefSeq RNA:NM_032413, RefSeq RNA:NM_197955, UniProtKB:Q9C002 No chr15 45722727 45725647 45430529 45433449 +PA166352357 HGNC:30928 chromosome 15 open reading frame 49 C15orf49 X102 Yes No HGNC:HGNC:30928 No 0 0 0 0 +PA162378188 400359 HGNC:33796 chromosome 15 open reading frame 53 C15orf53 FLJ35695 Yes No GeneCard:C15orf53, HGNC:HGNC:33796, NCBI Gene:400359, RefSeq DNA:NT_010194, RefSeq Protein:NP_997327, RefSeq RNA:NM_207444, UniProtKB:Q8NAA6 No chr15 38988799 38992239 38696598 38700038 +PA162378286 145853 HGNC:34453 ENSG00000189227 chromosome 15 open reading frame 61 C15orf61 LOC145853 Yes No Ensembl:ENSG00000189227, GeneCard:C15orf61, HGNC:HGNC:34453, NCBI Gene:145853, RefSeq DNA:NT_010194, RefSeq Protein:NP_001137408, RefSeq RNA:NM_001143936, UniProtKB:A6NNL5 No chr15 67813522 67819641 67521184 67527303 +PA162378296 643338 HGNC:34489 ENSG00000188277 chromosome 15 open reading frame 62 C15orf62 LOC643338 Yes No Ensembl:ENSG00000188277, GeneCard:C15orf62, HGNC:HGNC:34489, NCBI Gene:643338, RefSeq DNA:NT_010194, RefSeq Protein:NP_001123920, RefSeq RNA:NM_001130448, UniProtKB:A8K5M9 No chr15 41062159 41064647 40769961 40772449 +PA166352358 HGNC:14176 chromosome 16 open reading frame 43 C16orf43 Yes No HGNC:HGNC:14176 No 0 0 0 0 +PA142672254 123775 HGNC:26525 ENSG00000166455 chromosome 16 open reading frame 46 C16orf46 FLJ32702 Yes No Comparative Toxicogenomics Database:123775, Ensembl:ENSG00000166455, GeneCard:C16orf46, HGNC:HGNC:26525, HumanCyc Gene:HS15450, ModBase:Q6P387, NCBI Gene:123775, RefSeq DNA:NT_010498, RefSeq Protein:NP_001094343, RefSeq Protein:NP_689550, RefSeq RNA:NM_001100873, RefSeq RNA:NM_152337, UniProtKB:Q6P387 No chr16 81087102 81110872 81053497 81077267 +PA142672261 283897 HGNC:26649 ENSG00000185905 chromosome 16 open reading frame 54 C16orf54 Surface Antigen In Leukemia FLJ35681, SAIL Yes No Ensembl:ENSG00000185905, GeneCard:C16orf54, HGNC:HGNC:26649, NCBI Gene:283897, RefSeq DNA:NT_010393, RefSeq Protein:NP_787096, RefSeq RNA:NM_175900, UniProtKB:Q6UWD8 No chr16 29753784 29757340 29742463 29746019 +PA145149623 404550 HGNC:23362 ENSG00000154102 chromosome 16 open reading frame 74 C16orf74 adipose-secreted regulator of appetite ASRA, MGC17624 Yes No Ensembl:ENSG00000154102, GeneCard:C16orf74, HGNC:HGNC:23362, NCBI Gene:404550, RefSeq DNA:NT_010498, RefSeq Protein:NP_996850, RefSeq RNA:NM_206967 No chr16 85741123 85784689 85707517 85751083 +PA147358456 123970 HGNC:28479 ENSG00000166152 chromosome 16 open reading frame 78 C16orf78 MGC33367 Yes No Ensembl:ENSG00000166152, GeneCard:C16orf78, HGNC:HGNC:28479, HumanCyc Gene:HS15409, ModBase:Q8WTQ4, NCBI Gene:123970, RefSeq DNA:NT_010498, RefSeq Protein:NP_653203, RefSeq RNA:NM_144602, UniProtKB:Q8WTQ4 No chr16 49407808 49433321 49373808 49399431 +PA164716846 162083 HGNC:30755 ENSG00000234186 chromosome 16 open reading frame 82 C16orf82 TNT Yes No Ensembl:ENSG00000234186, GeneCard:C16orf82, HGNC:HGNC:30755, ModBase:Q7Z2V1, NCBI Gene:162083, RefSeq DNA:NT_010393, RefSeq Protein:NP_001139017, RefSeq RNA:NM_001145545, UniProtKB:Q7Z2V1 No chr16 27078219 27080487 27066898 27069166 +PA162378445 388284 HGNC:33755 ENSG00000159761 chromosome 16 open reading frame 86 C16orf86 FLJ41802 Yes No Ensembl:ENSG00000159761, GeneCard:C16orf86, HGNC:HGNC:33755, NCBI Gene:388284, RefSeq DNA:NT_010498, RefSeq Protein:NP_001013002, RefSeq RNA:NM_001012984, UniProtKB:B5MCW6 No chr16 67700662 67702661 67666806 67670523 +PA162378458 388272 HGNC:33754 ENSG00000155330 chromosome 16 open reading frame 87 C16orf87 Yes No Ensembl:ENSG00000155330, GeneCard:C16orf87, HGNC:HGNC:33754, NCBI Gene:388272, RefSeq DNA:NT_010498, RefSeq Protein:NP_001001436, RefSeq RNA:NM_001001436, UniProtKB:Q6PH81 No chr16 46835959 46865074 46802047 46831162 +PA162378486 146556 HGNC:28687 ENSG00000153446 chromosome 16 open reading frame 89 C16orf89 MGC45438 Yes No Ensembl:ENSG00000153446, GeneCard:C16orf89, HGNC:HGNC:28687, HumanCyc Gene:HS07907, NCBI Gene:146556, RefSeq DNA:NT_010393, RefSeq Protein:NP_001091984, RefSeq Protein:NP_689672, RefSeq RNA:NM_001098514, RefSeq RNA:NM_152459, UniProtKB:Q6UX73 No chr16 5092925 5116146 5042772 5066145 +PA162378507 646174 HGNC:34455 ENSG00000215131 chromosome 16 open reading frame 90 C16orf90 LOC646174 Yes No Ensembl:ENSG00000215131, GeneCard:C16orf90, HGNC:HGNC:34455, NCBI Gene:646174, RefSeq DNA:NT_010393, RefSeq Protein:NP_001073993, RefSeq RNA:NM_001080524, UniProtKB:C9JYV4 No chr16 3543484 3545758 3493484 3495521 +PA164716866 146378 HGNC:26346 ENSG00000167194 chromosome 16 open reading frame 92 C16orf92 Fertilization Influencing Membrane Protein FIMP, FLJ25404 Yes No Ensembl:ENSG00000167194, GeneCard:C16orf92, HGNC:HGNC:26346, NCBI Gene:146378, RefSeq DNA:NT_010393, RefSeq Protein:NP_001103129, RefSeq Protein:NP_001103130, RefSeq RNA:NM_001109659, RefSeq RNA:NM_001109660, UniProtKB:Q96LL3 No chr16 30034655 30036023 30023334 30024702 +PA166049055 100506581 HGNC:40033 ENSG00000260456 chromosome 16 open reading frame 95 C16orf95 Yes No Ensembl:ENSG00000260456, HGNC:HGNC:40033, NCBI Gene:100506581 No chr16 87336404 87351468 87302798 87317420 +PA166049053 342346 HGNC:40031 ENSG00000205832 chromosome 16 open reading frame 96 C16orf96 Yes No Ensembl:ENSG00000205832, HGNC:HGNC:40031, NCBI Gene:342346 No chr16 4606330 4650435 4538709 4600455 +PA164716900 388327 HGNC:34494 ENSG00000256806 chromosome 17 open reading frame 100 C17orf100 LOC388327 Yes No Ensembl:ENSG00000256806, GeneCard:C17orf100, HGNC:HGNC:34494, NCBI Gene:388327, RefSeq DNA:NT_010718, RefSeq Protein:NP_001098990, RefSeq RNA:NM_001105520 No chr17 6555059 6556617 6651739 6653298 +PA165431617 100130311 HGNC:37238 ENSG00000205710 chromosome 17 open reading frame 107 C17orf107 Yes No Ensembl:ENSG00000205710, GeneCard:C17orf107, HGNC:HGNC:37238, NCBI Gene:100130311, RefSeq DNA:NT_010718, RefSeq Protein:NP_001139008, RefSeq RNA:NM_001145536, UniProtKB:Q6ZR85 No chr17 4802948 4806227 4899653 4902932 +PA166352359 HGNC:1202 chromosome 17 open reading frame 11 C17orf11 Yes No HGNC:HGNC:1202 No 0 0 0 0 +PA166180579 110806298 HGNC:53437 ENSG00000267221 chromosome 17 open reading frame 113 C17orf113 Yes No Ensembl:ENSG00000267221, HGNC:HGNC:53437, NCBI Gene:110806298 No 0 0 0 0 +PA166352361 119139905 HGNC:55343 chromosome 17 open reading frame 114 C17orf114 Yes No HGNC:HGNC:55343, NCBI Gene:119139905 No 0 0 0 0 +PA142672233 146853 HGNC:29581 ENSG00000270806 chromosome 17 open reading frame 50 C17orf50 Yes No Ensembl:ENSG00000270806, GeneCard:C17orf50, HGNC:HGNC:29581, HumanCyc Gene:HS14534, ModBase:Q8WW18, NCBI Gene:146853, RefSeq DNA:NT_010799, RefSeq Protein:NP_660315, RefSeq RNA:NM_145272, UniProtKB:Q8WW18 No chr17 34087890 34092098 35760897 35765079 +PA142672241 284018 HGNC:27568 ENSG00000186665 chromosome 17 open reading frame 58 C17orf58 Yes No Ensembl:ENSG00000186665, GeneCard:C17orf58, HGNC:HGNC:27568, NCBI Gene:284018, RefSeq DNA:NT_010783, RefSeq Protein:NP_858041, RefSeq Protein:NP_858042, RefSeq RNA:NM_181655, RefSeq RNA:NM_181656, UniProtKB:Q2M2W7 No chr17 65987217 65989765 67991099 67993649 +PA142672250 339210 HGNC:27900 ENSG00000214226 chromosome 17 open reading frame 67 C17orf67 Yes No Ensembl:ENSG00000214226, GeneCard:C17orf67, HGNC:HGNC:27900, NCBI Gene:339210, RefSeq DNA:NT_010783, RefSeq Protein:NP_001078899, RefSeq Protein:XP_001719450, RefSeq RNA:NM_001085430, RefSeq RNA:XM_001719398, UniProtKB:Q0P5P2 No chr17 54869274 54911256 56791913 56833990 +PA142672223 64149 HGNC:30173 ENSG00000108666 chromosome 17 open reading frame 75 C17orf75 sensitization to ricin complex subunit 2 NJMU-R1, SRI2 Yes No Ensembl:ENSG00000108666, GeneCard:C17orf75, HGNC:HGNC:30173, HumanCyc Gene:HS12679, ModBase:Q9HAS0, NCBI Gene:64149, RefSeq DNA:NT_010799, RefSeq Protein:NP_071739, RefSeq RNA:NM_022344, UniProtKB:Q9HAS0 No chr17 30655460 30677066 32328441 32350047 +PA143485402 284099 HGNC:26831 ENSG00000278505 chromosome 17 open reading frame 78 C17orf78 FLJ39647 Yes No Ensembl:ENSG00000278505, GeneCard:C17orf78, HGNC:HGNC:26831, HumanCyc Gene:HS15537, NCBI Gene:284099, RefSeq DNA:NT_010783, RefSeq Protein:NP_775896, RefSeq RNA:NM_173625, UniProtKB:Q8N4C9 No chr17 35732928 35749812 37375710 37392708 +PA166352360 HGNC:26206 chromosome 17 open reading frame 84 C17orf84 FLJ22594 Yes No HGNC:HGNC:26206 No 0 0 0 0 +PA162378601 100141515 HGNC:34490 ENSG00000187997 chromosome 17 open reading frame 99 C17orf99 GLPG464, IL-40, UNQ464 Yes No Ensembl:ENSG00000187997, GeneCard:C17orf99, HGNC:HGNC:34490, ModBase:Q6UX52, NCBI Gene:100141515, RefSeq DNA:NT_010783, RefSeq Protein:NP_001156547, RefSeq Protein:XP_002343586, RefSeq Protein:XP_002345122, RefSeq Protein:XP_002347853, RefSeq RNA:NM_001163075, RefSeq RNA:XM_002343545, RefSeq RNA:XM_002345081, RefSeq RNA:XM_002347812, UniProtKB:Q6UX52 No chr17 76142434 76162364 78146035 78166283 +PA134950013 147276 HGNC:26447 ENSG00000279020 chromosome 18 open reading frame 15 C18orf15 FLJ31338, HsT3231 Yes No Ensembl:ENSG00000279020, GeneCard:C18orf15, HGNC:HGNC:26447, NCBI Gene:147276, RefSeq DNA:NT_010859, RefSeq RNA:XR_040983, RefSeq RNA:XR_040984, RefSeq RNA:XR_040985 No chr18 +PA134888949 83608 HGNC:28802 ENSG00000141428 chromosome 18 open reading frame 21 C18orf21 HsT3108, PNAS-124, PNAS-131 Yes Yes Ensembl:ENSG00000141428, GeneCard:C18orf21, HGNC:HGNC:28802, HumanCyc Gene:HS13877, ModBase:Q32NC0, NCBI Gene:83608, RefSeq DNA:NT_010966, RefSeq Protein:NP_001188403, RefSeq Protein:NP_001188404, RefSeq Protein:NP_001188405, RefSeq Protein:NP_113634, RefSeq RNA:NM_001201474, RefSeq RNA:NM_001201475, RefSeq RNA:NM_001201476, RefSeq RNA:NM_031446, UniProtKB:Q32NC0, UniProtKB:Q8TBS0 No chr18 33552588 33559250 35972625 35979287 +PA162378602 497661 HGNC:31690 ENSG00000177576 chromosome 18 open reading frame 32 C18orf32 FLJ23458 Yes No Ensembl:ENSG00000177576, GeneCard:C18orf32, HGNC:HGNC:31690, NCBI Gene:497661, RefSeq DNA:NT_010966, RefSeq Protein:NP_001030177, RefSeq Protein:NP_001186275, RefSeq RNA:NM_001035005, RefSeq RNA:NM_001199346, UniProtKB:Q8TCD1 No chr18 47007548 47013644 49481178 49487274 +PA166352362 HGNC:29311 chromosome 18 open reading frame 41 C18orf41 Yes No HGNC:HGNC:29311 No 0 0 0 0 +PA134942612 162681 HGNC:13796 ENSG00000166845 chromosome 18 open reading frame 54 C18orf54 lung adenoma susceptibility protein 2 LAS2, MGC33382 Yes No Ensembl:ENSG00000166845, GeneCard:C18orf54, HGNC:HGNC:13796, HumanCyc Gene:HS15496, NCBI Gene:162681, OMIM:613258, RefSeq DNA:NT_010966, RefSeq Protein:NP_775800, RefSeq RNA:NM_173529, UniProtKB:Q8IYD9 No chr18 51884284 51908404 54357914 54382035 +PA134956204 494514 HGNC:29553 chromosome 18 open reading frame 56 C18orf56 Yes Yes GeneCard:C18orf56, HGNC:HGNC:29553, ModBase:Q8TAI1, NCBI Gene:494514, RefSeq DNA:NT_010859, RefSeq Protein:NP_001012734, RefSeq RNA:NM_001012716, UniProtKB:Q8TAI1 No chr18 649620 658340 649620 658340 +PA166352363 HGNC:26362 chromosome 18 open reading frame 61 C18orf61 Yes No HGNC:HGNC:26362 No 0 0 0 0 +PA166049057 644041 HGNC:40037 ENSG00000206043 chromosome 18 open reading frame 63 C18orf63 DKFZP781G0119 Yes No Ensembl:ENSG00000206043, HGNC:HGNC:40037, NCBI Gene:644041 No chr18 71983110 72026422 74315875 74359187 +PA134981038 83636 HGNC:25443 ENSG00000131943 chromosome 19 open reading frame 12 C19orf12 membrane protein-associated neurodegeneration, neurodegeneration with brain iron accumulation 3, neurodegeneration with brain iron accumulation 4 DKFZP762D096, MGC10922, MPAN, NBIA3, NBIA4, SPG43 Yes No Ensembl:ENSG00000131943, GeneCard:C19orf12, HGNC:HGNC:25443, HumanCyc Gene:HS13403, ModBase:Q9NSK7, NCBI Gene:83636, RefSeq DNA:NT_011109, RefSeq Protein:NP_001026896, RefSeq Protein:NP_113636, RefSeq RNA:NM_001031726, RefSeq RNA:NM_031448, UniProtKB:Q9NSK7 No chr19 30189793 30206696 29698886 29715789 +PA134876425 147685 HGNC:28642 ENSG00000177025 chromosome 19 open reading frame 18 C19orf18 MGC41906 Yes No Ensembl:ENSG00000177025, GeneCard:C19orf18, HGNC:HGNC:28642, HumanCyc Gene:HS16776, ModBase:Q8NEA5, NCBI Gene:147685, RefSeq DNA:NT_011109, RefSeq Protein:NP_689687, RefSeq RNA:NM_152474, UniProtKB:Q8NEA5 No chr19 58469805 58485902 57958437 57974534 +PA134878893 148223 HGNC:26711 ENSG00000119559 chromosome 19 open reading frame 25 C19orf25 FLJ36666 Yes No Ensembl:ENSG00000119559, GeneCard:C19orf25, HGNC:HGNC:26711, HumanCyc Gene:HS12942, NCBI Gene:148223, RefSeq DNA:NT_011255, RefSeq Protein:NP_689695, RefSeq RNA:NM_152482, UniProtKB:Q9UFG5 No chr19 1473200 1479555 1473201 1479552 +PA166352365 HGNC:17573 chromosome 19 open reading frame 31 C19orf31 FLJ40719 Yes No HGNC:HGNC:17573 No 0 0 0 0 +PA134924870 64073 HGNC:16668 ENSG00000167644 chromosome 19 open reading frame 33 C19orf33 HAI-2 related small protein, hepatocyte growth factor activator inhibitor type 2-related small protein, immortalization-upregulated protein H2RSP, IMUP, IMUP-1, IMUP-2 Yes No Ensembl:ENSG00000167644, GeneCard:C19orf33, HGNC:HGNC:16668, ModBase:Q9GZP8, NCBI Gene:64073, RefSeq DNA:NT_011109, RefSeq Protein:NP_277055, RefSeq RNA:NM_033520, UniProtKB:Q9GZP8 No chr19 38794804 38795646 38304161 38305006 +PA162378624 255809 HGNC:34073 ENSG00000214212 chromosome 19 open reading frame 38 C19orf38 Highly expressed in immature dendritic cell transcript 1 HIDE1 Yes No Ensembl:ENSG00000214212, GeneCard:C19orf38, HGNC:HGNC:34073, NCBI Gene:255809, RefSeq DNA:NT_011295, RefSeq Protein:NP_001129954, RefSeq RNA:NM_001136482, UniProtKB:A8MVS5 No chr19 10947304 10980466 10836572 10869791 +PA145149498 84167 HGNC:26141 ENSG00000105072 chromosome 19 open reading frame 44 C19orf44 FLJ21742 Yes No Ensembl:ENSG00000105072, GeneCard:C19orf44, HGNC:HGNC:26141, HumanCyc Gene:HS12573, ModBase:Q9H6X5, NCBI Gene:84167, RefSeq DNA:NT_011295, RefSeq Protein:NP_115583, RefSeq RNA:NM_032207, UniProtKB:Q9H6X5 No chr19 16607187 16632180 16496311 16521369 +PA145149543 126526 HGNC:26723 ENSG00000160392 chromosome 19 open reading frame 47 C19orf47 FLJ36888 Yes No Ensembl:ENSG00000160392, GeneCard:C19orf47, HGNC:HGNC:26723, NCBI Gene:126526, RefSeq DNA:NT_011109, RefSeq Protein:NP_849152, RefSeq RNA:NM_178830, UniProtKB:Q8N9M1 No chr19 40826967 40854434 40292743 40348527 +PA145149544 84798 HGNC:29667 ENSG00000167747 chromosome 19 open reading frame 48 C19orf48 multidrug resistance-related protein BC006151, MGC13170 Yes No Ensembl:ENSG00000167747, GeneCard:C19orf48, HGNC:HGNC:29667, HumanCyc Gene:HS15595, NCBI Gene:84798, RefSeq DNA:NT_011109, RefSeq Protein:NP_954857, RefSeq Protein:NP_954858, RefSeq RNA:NM_199249, RefSeq RNA:NM_199250, UniProtKB:Q6RUI8 No chr19 51300961 51307974 50797693 50804853 +PA147358407 28974 HGNC:24991 ENSG00000104979 chromosome 19 open reading frame 53 C19orf53 leydig cell tumor 10 kDa protein homolog HSPC023, L10K, LYDG10 Yes No Ensembl:ENSG00000104979, GeneCard:C19orf53, HGNC:HGNC:24991, HumanCyc Gene:HS12568, NCBI Gene:28974, RefSeq DNA:NT_011295, RefSeq Protein:NP_054766, RefSeq RNA:NM_014047, UniProtKB:Q9UNZ5 No chr19 13885257 13889587 13774443 13778773 +PA162378830 646457 HGNC:34354 ENSG00000188032 chromosome 19 open reading frame 67 C19orf67 Yes No Ensembl:ENSG00000188032, GeneCard:C19orf67, HGNC:HGNC:34354, NCBI Gene:646457, RefSeq DNA:NT_011295, RefSeq Protein:XP_001719488, RefSeq Protein:XP_934475, RefSeq Protein:XP_942419, RefSeq RNA:XM_001719436, RefSeq RNA:XM_929382, RefSeq RNA:XM_937326 No chr19 14192444 14196607 14080642 14086153 +PA164717000 55150 HGNC:25534 ENSG00000221916 chromosome 19 open reading frame 73 C19orf73 FLJ10490 Yes No Ensembl:ENSG00000221916, GeneCard:C19orf73, HGNC:HGNC:25534, NCBI Gene:55150, RefSeq DNA:NT_011109, RefSeq Protein:NP_060581, RefSeq RNA:NM_018111, UniProtKB:Q9NVV2 No chr19 49621654 49622397 49118397 49119140 +PA166352364 HGNC:17974 chromosome 19 open reading frame 8 C19orf8 Yes No HGNC:HGNC:17974 No 0 0 0 0 +PA166049061 342918 HGNC:40041 ENSG00000235034 chromosome 19 open reading frame 81 C19orf81 Yes No Ensembl:ENSG00000235034, HGNC:HGNC:40041, NCBI Gene:342918 No chr19 51152702 51162567 50649445 50659310 +PA166123673 147646 HGNC:27112 ENSG00000262874 chromosome 19 open reading frame 84 C19orf84 Yes No Ensembl:ENSG00000262874, HGNC:HGNC:27112, NCBI Gene:147646 No +PA166180580 111064650 HGNC:53653 ENSG00000283567 chromosome 19 open reading frame 85 C19orf85 Yes No Ensembl:ENSG00000283567, HGNC:HGNC:53653, NCBI Gene:111064650 No 0 0 0 0 +PA164717007 10438 HGNC:29911 ENSG00000197223 C1D nuclear receptor corepressor C1D small unique nuclear receptor co-repressor LRP1, Rrp47, SUN-CoR, SUNCOR Yes No Ensembl:ENSG00000197223, GeneCard:C1D, HGNC:HGNC:29911, NCBI Gene:10438, OMIM:606997, RefSeq DNA:NT_022184, RefSeq Protein:NP_001177192, RefSeq Protein:NP_001177194, RefSeq Protein:NP_006324, RefSeq Protein:NP_775269, RefSeq RNA:NM_001190263, RefSeq RNA:NM_001190265, RefSeq RNA:NM_006333, RefSeq RNA:NM_173177, UniProtKB:Q13901 No chr2 68269332 68290159 68042200 68063027 +PA134971259 56913 HGNC:24337 ENSG00000106392 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 C1GALT1 """core 1 beta3-Gal-T"", ""core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1""" C1GALT, T-synthase Yes No Comparative Toxicogenomics Database:56913, Ensembl:ENSG00000106392, GeneCard:C1GALT1, HGNC:HGNC:24337, HumanCyc Gene:HS02901, ModBase:Q9NS00, NCBI Gene:56913, OMIM:610555, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_064541, RefSeq RNA:NM_020156, UniProtKB:Q9NS00 No chr7 7222178 7288282 7182547 7248651 +PA134974626 29071 HGNC:24338 ENSG00000171155 C1GALT1 specific chaperone 1 C1GALT1C1 C1GALT1-specific chaperone 1 C1GALT2, COSMC Yes No Comparative Toxicogenomics Database:29071, Ensembl:ENSG00000171155, GeneCard:C1GALT1C1, HGNC:HGNC:24338, HumanCyc Gene:HS15955, ModBase:Q96EU7, NCBI Gene:29071, OMIM:300611, OMIM:300622, RefSeq DNA:NG_016219, RefSeq DNA:NT_011786, RefSeq Protein:NP_001011551, RefSeq Protein:NP_689905, RefSeq RNA:NM_001011551, RefSeq RNA:NM_152692, UniProtKB:Q96EU7 No chrX 119759529 119764005 120625674 120630150 +PA166180566 728819 HGNC:51617 ENSG00000223658 C1GALT1 specific chaperone 1 like C1GALT1C1L Yes No Ensembl:ENSG00000223658, HGNC:HGNC:51617, NCBI Gene:728819 No 0 0 0 0 +PA142672489 92346 HGNC:29591 ENSG00000180999 chromosome 1 open reading frame 105 C1orf105 Yes No Ensembl:ENSG00000180999, GeneCard:C1orf105, HGNC:HGNC:29591, HumanCyc Gene:HS17609, NCBI Gene:92346, RefSeq DNA:NT_004487, RefSeq Protein:NP_640333, RefSeq RNA:NM_139240, UniProtKB:O95561 No chr1 172389828 172437969 172418560 172468829 +PA142672499 79762 HGNC:25873 ENSG00000162817 chromosome 1 open reading frame 115 C1orf115 Required for Drug-induced Death 1 FLJ14146, RDD1 Yes No Ensembl:ENSG00000162817, GeneCard:C1orf115, HGNC:HGNC:25873, HumanCyc Gene:HS14971, NCBI Gene:79762, RefSeq DNA:NT_167186, RefSeq Protein:NP_078985, RefSeq RNA:NM_024709, UniProtKB:Q9H7X2 No chr1 220863628 220872499 220690286 220699157 +PA142672500 79098 HGNC:28667 ENSG00000182795 chromosome 1 open reading frame 116 C1orf116 specifically androgen-regulated gene FLJ36507, MGC2742, MGC4309, SARG Yes No Ensembl:ENSG00000182795, GeneCard:C1orf116, HGNC:HGNC:28667, NCBI Gene:79098, OMIM:611680, RefSeq DNA:NT_167186, RefSeq Protein:NP_001077393, RefSeq Protein:NP_076427, RefSeq RNA:NM_001083924, RefSeq RNA:NM_023938, UniProtKB:C9JV41, UniProtKB:Q9BW04 No chr1 207191866 207208555 207018521 207032761 +PA142672440 127687 HGNC:24789 ENSG00000197982 chromosome 1 open reading frame 122 C1orf122 FLJ45459 Yes No Ensembl:ENSG00000197982, GeneCard:C1orf122, HGNC:HGNC:24789, NCBI Gene:127687, RefSeq DNA:NT_032977, RefSeq Protein:NP_001136198, RefSeq Protein:NP_940848, RefSeq RNA:NM_001142726, RefSeq RNA:NM_198446, UniProtKB:Q6ZSJ8 No chr1 38273473 38275126 37807801 37809454 +PA142672445 148345 HGNC:26730 ENSG00000175262 chromosome 1 open reading frame 127 C1orf127 FLJ37118 Yes No Ensembl:ENSG00000175262, GeneCard:C1orf127, HGNC:HGNC:26730, HumanCyc Gene:HS16450, NCBI Gene:148345, RefSeq DNA:NT_021937, RefSeq Protein:NP_001164225, RefSeq Protein:NP_775778, RefSeq RNA:NM_001170754, RefSeq RNA:NM_173507 No chr1 11006530 11042094 10946473 10982037 +PA166352189 HGNC:32039 chromosome 1 open reading frame 136 C1orf136 FLJ13381, FLJ21640 Yes No HGNC:HGNC:32039 No 0 0 0 0 +PA142672459 400757 HGNC:32044 ENSG00000203963 chromosome 1 open reading frame 141 C1orf141 Yes No Ensembl:ENSG00000203963, GeneCard:C1orf141, HGNC:HGNC:32044, ModBase:Q5JVX7, NCBI Gene:400757, RefSeq DNA:NT_032977, RefSeq Protein:NP_001013696, RefSeq RNA:NM_001013674, UniProtKB:Q5JVX7 No chr1 67557859 67600654 67092176 67141646 +PA142672463 388649 HGNC:24032 ENSG00000203910 chromosome 1 open reading frame 146 C1orf146 synaptonemal complex reinforcing element SCRE, SPO16 Yes No Ensembl:ENSG00000203910, GeneCard:C1orf146, HGNC:HGNC:24032, NCBI Gene:388649, RefSeq DNA:NT_032977, RefSeq Protein:NP_001012425, RefSeq RNA:NM_001012425, UniProtKB:Q5VVC0 No chr1 92683573 92711367 92217920 92245812 +PA142672464 574431 HGNC:32061 ENSG00000162888 chromosome 1 open reading frame 147 C1orf147 FLJ32597 Yes No Ensembl:ENSG00000162888, GeneCard:C1orf147, HGNC:HGNC:32061, NCBI Gene:574431, RefSeq DNA:NT_167186, RefSeq RNA:XR_039849, RefSeq RNA:XR_039850, RefSeq RNA:XR_039851, RefSeq RNA:XR_110846 No chr1 +PA142672410 54991 HGNC:26062 ENSG00000131591 chromosome 1 open reading frame 159 C1orf159 FLJ20584 Yes No Ensembl:ENSG00000131591, GeneCard:C1orf159, HGNC:HGNC:26062, HumanCyc Gene:HS13390, NCBI Gene:54991, RefSeq DNA:NT_004350, RefSeq Protein:NP_060361, RefSeq RNA:NM_017891, UniProtKB:Q96HA4 No chr1 1017198 1051736 1081811 1116356 +PA142672413 128346 HGNC:28344 ENSG00000143110 chromosome 1 open reading frame 162 C1orf162 MGC24133 Yes No Ensembl:ENSG00000143110, GeneCard:C1orf162, HGNC:HGNC:28344, NCBI Gene:128346, RefSeq DNA:NT_032977, RefSeq Protein:NP_777556, RefSeq RNA:NM_174896, UniProtKB:Q8NEQ5 No chr1 112016474 112021134 111462694 111478512 +PA142672417 284498 HGNC:25262 ENSG00000215910 chromosome 1 open reading frame 167 C1orf167 DKFZp434E1410, RP11-56N19.2 Yes Yes Ensembl:ENSG00000215910, GeneCard:C1orf167, HGNC:HGNC:25262, NCBI Gene:284498, RefSeq DNA:NT_021937, RefSeq Protein:XP_001715374, RefSeq Protein:XP_002342072, RefSeq Protein:XP_003118893, RefSeq Protein:XP_209234, RefSeq Protein:XP_943296, RefSeq RNA:XM_001715322, RefSeq RNA:XM_002342031, RefSeq RNA:XM_003118845, RefSeq RNA:XM_209234, RefSeq RNA:XM_938203 No chr1 11823827 11849642 11762188 11789585 +PA143485318 339448 HGNC:27915 ENSG00000198912 chromosome 1 open reading frame 174 C1orf174 RP13-531C17.2 Yes No Ensembl:ENSG00000198912, GeneCard:C1orf174, HGNC:HGNC:27915, NCBI Gene:339448, RefSeq DNA:NT_004350, RefSeq Protein:NP_997239, RefSeq RNA:NM_207356, UniProtKB:Q8IYL3 No chr1 3805697 3816857 3889133 3900293 +PA142672433 284546 HGNC:28096 ENSG00000204006 chromosome 1 open reading frame 185 C1orf185 FLJ27485 Yes No Ensembl:ENSG00000204006, GeneCard:C1orf185, HGNC:HGNC:28096, NCBI Gene:284546, RefSeq DNA:NT_032977, RefSeq Protein:NP_001129980, RefSeq RNA:NM_001136508, UniProtKB:Q5T7R7 No chr1 51442129 51613754 51102234 51148082 +PA166352190 HGNC:32329 chromosome 1 open reading frame 193 C1orf193 RP11-216N14.4 Yes No HGNC:HGNC:32329 No 0 0 0 0 +PA166352191 HGNC:32338 chromosome 1 open reading frame 197 C1orf197 FLJ43126, PRO0650 Yes No HGNC:HGNC:32338 No 0 0 0 0 +PA143485319 84886 HGNC:25900 ENSG00000119280 chromosome 1 open reading frame 198 C1orf198 DKFZp667D152, FLJ14525, FLJ16283, FLJ38847, MGC10710 Yes No Comparative Toxicogenomics Database:84886, Ensembl:ENSG00000119280, GeneCard:C1orf198, HGNC:HGNC:25900, HumanCyc Gene:HS12932, ModBase:Q9H425, NCBI Gene:84886, RefSeq DNA:NT_167186, RefSeq Protein:NP_001129966, RefSeq Protein:NP_001129967, RefSeq Protein:NP_116189, RefSeq RNA:NM_001136494, RefSeq RNA:NM_001136495, RefSeq RNA:NM_032800, UniProtKB:A8K8R8, UniProtKB:B3KTW1, UniProtKB:Q9H425 No chr1 230972865 231005335 230837119 230869589 +PA166352188 HGNC:16786 chromosome 1 open reading frame 20 C1orf20 Yes No HGNC:HGNC:16786 No 0 0 0 0 +PA166352192 122455338 HGNC:56760 chromosome 1 open reading frame 202 C1orf202 Yes No HGNC:HGNC:56760, NCBI Gene:122455338 No 0 0 0 0 +PA25610 81563 HGNC:15494 ENSG00000116667 chromosome 1 open reading frame 21 C1orf21 proliferation-inducing protein 13 PIG13 Yes No Ensembl:ENSG00000116667, GenAtlas:C1orf21, GeneCard:C1orf21, HGNC:HGNC:15494, NCBI Gene:81563, RefSeq DNA:NT_004487, RefSeq Protein:NP_110433, RefSeq RNA:NM_030806, UCSC Genome Browser:NM_030806, UniProtKB:Q9H246 No chr1 184356150 184598155 184387016 184629021 +PA144596510 149466 HGNC:28755 ENSG00000253313 chromosome 1 open reading frame 210 C1orf210 Type III Endosome Membrane Protein MGC52423, TEMP Yes No Ensembl:ENSG00000253313, GeneCard:C1orf210, HGNC:HGNC:28755, NCBI Gene:149466, RefSeq DNA:NT_032977, RefSeq Protein:NP_001158301, RefSeq Protein:NP_872323, RefSeq RNA:NM_001164829, RefSeq RNA:NM_182517, UniProtKB:Q8IVY1 No chr1 43747554 43751334 43281865 43285840 +PA162378892 127703 HGNC:26800 ENSG00000142686 chromosome 1 open reading frame 216 C1orf216 FLJ38984 Yes No Ensembl:ENSG00000142686, GeneCard:C1orf216, HGNC:HGNC:26800, HumanCyc Gene:HS13935, ModBase:Q8TAB5, NCBI Gene:127703, RefSeq DNA:NT_032977, RefSeq Protein:NP_689587, RefSeq RNA:NM_152374, UniProtKB:Q8TAB5 No chr1 36179477 36184790 35713876 35719189 +PA162378901 400798 HGNC:33805 ENSG00000213057 chromosome 1 open reading frame 220 C1orf220 FLJ35530 Yes No Ensembl:ENSG00000213057, GeneCard:C1orf220, HGNC:HGNC:33805, NCBI Gene:400798, RefSeq DNA:NT_004487, RefSeq Protein:NP_997350, RefSeq RNA:NM_207467, RefSeq RNA:NR_033186 No chr1 178511931 178631729 178542796 178548889 +PA164717033 400793 HGNC:34351 ENSG00000239887 chromosome 1 open reading frame 226 C1orf226 FLJ13137 Yes No Ensembl:ENSG00000239887, GeneCard:C1orf226, HGNC:HGNC:34351, ModBase:A1L170, NCBI Gene:400793, RefSeq DNA:NT_004487, RefSeq Protein:NP_001078844, RefSeq Protein:NP_001128712, RefSeq RNA:NM_001085375, RefSeq RNA:NM_001135240, UniProtKB:A1L170, UniProtKB:B4DF31 No chr1 162348696 162356608 162378906 162386818 +PA166180567 110806296 HGNC:53426 ENSG00000282872 chromosome 1 open reading frame 230 C1orf232 Yes No Ensembl:ENSG00000282872, HGNC:HGNC:53426, NCBI Gene:110806296 No 0 0 0 0 +PA38781 79169 HGNC:19032 ENSG00000143793 chromosome 1 open reading frame 35 C1orf35 multiple myeloma tumor-associated protein 2 MGC4174, MMTAG2 Yes No Ensembl:ENSG00000143793, GenAtlas:C1orf35, GeneCard:C1orf35, HGNC:HGNC:19032, HumanCyc Gene:HS13985, ModBase:Q9BU76, NCBI Gene:79169, RefSeq DNA:NT_167186, RefSeq Protein:NP_077295, RefSeq RNA:NM_024319, UCSC Genome Browser:NM_024319, UniProtKB:Q9BU76 No chr1 228288428 228293112 228100727 228103462 +PA134961848 25912 HGNC:29876 ENSG00000143612 chromosome 1 open reading frame 43 C1orf43 DKFZp586G1722, NICE-3 Yes No Ensembl:ENSG00000143612, GeneCard:C1orf43, HGNC:HGNC:29876, HumanCyc Gene:HS13976, ModBase:Q9UGL8, NCBI Gene:25912, RefSeq DNA:NT_004487, RefSeq Protein:NP_001092086, RefSeq Protein:NP_056264, RefSeq Protein:NP_620077, RefSeq RNA:NM_001098616, RefSeq RNA:NM_015449, RefSeq RNA:NM_138740, UniProtKB:Q09GN0, UniProtKB:Q9BWL3 No chr1 154179183 154193273 154206701 154220797 +PA166352187 HGNC:1236 chromosome 1 open reading frame 5 C1orf5 Yes No HGNC:HGNC:1236 No 0 0 0 0 +PA134861089 79078 HGNC:28795 ENSG00000164008 chromosome 1 open reading frame 50 C1orf50 MGC955 Yes No Ensembl:ENSG00000164008, GeneCard:C1orf50, HGNC:HGNC:28795, HumanCyc Gene:HS15136, ModBase:Q9BV19, NCBI Gene:79078, RefSeq DNA:NT_032977, RefSeq Protein:NP_077002, RefSeq RNA:NM_024097, UniProtKB:Q9BV19 No chr1 43232916 43241413 42767245 42775742 +PA142672503 148423 HGNC:24871 ENSG00000162642 chromosome 1 open reading frame 52 C1orf52 FLJ44982, gm117 Yes No Ensembl:ENSG00000162642, GeneCard:C1orf52, HGNC:HGNC:24871, ModBase:Q8N6N3, NCBI Gene:148423, RefSeq DNA:NT_032977, RefSeq Protein:NP_932343, RefSeq RNA:NM_198077, RefSeq RNA:NR_024113, UniProtKB:Q8N6N3 No chr1 85715636 85725355 85249953 85259672 +PA142672504 388722 HGNC:30003 ENSG00000203724 chromosome 1 open reading frame 53 C1orf53 Yes No Ensembl:ENSG00000203724, GeneCard:C1orf53, HGNC:HGNC:30003, NCBI Gene:388722, RefSeq DNA:NT_004487, RefSeq Protein:NP_001019765, RefSeq RNA:NM_001024594, UniProtKB:Q5VUE5 No chr1 197871682 197876497 197902552 197907367 +PA142672505 79630 HGNC:26258 ENSG00000118292 chromosome 1 open reading frame 54 C1orf54 FLJ23221 Yes No Comparative Toxicogenomics Database:79630, Ensembl:ENSG00000118292, GeneCard:C1orf54, HGNC:HGNC:26258, HumanCyc Gene:HS12911, NCBI Gene:79630, RefSeq DNA:NT_004487, RefSeq Protein:NP_078855, RefSeq RNA:NM_024579, UniProtKB:Q8WWF1 No chr1 150244687 150253335 150272284 150280927 +PA142672507 54964 HGNC:26045 ENSG00000143443 chromosome 1 open reading frame 56 C1orf56 methylated in normal thymocytes FLJ20519, MENT Yes No Ensembl:ENSG00000143443, GeneCard:C1orf56, HGNC:HGNC:26045, NCBI Gene:54964, RefSeq DNA:NT_004487, RefSeq Protein:NP_060330, RefSeq RNA:NM_017860, UniProtKB:Q9BUN1 No chr1 151020259 151023896 151047783 151051420 +PA142672523 148304 HGNC:26319 ENSG00000162757 chromosome 1 open reading frame 74 C1orf74 up-regulated in lung cancer 4 FLJ25078, URLC4 Yes No Ensembl:ENSG00000162757, GeneCard:C1orf74, HGNC:HGNC:26319, HumanCyc Gene:HS08736, ModBase:Q96LT6, NCBI Gene:148304, RefSeq DNA:NT_167186, RefSeq Protein:NP_689698, RefSeq RNA:NM_152485, UniProtKB:Q96LT6 No chr1 209955662 209957890 209779208 209784730 +PA142672471 127795 HGNC:28547 ENSG00000162598 chromosome 1 open reading frame 87 C1orf87 carcinoma-related EF-hand protein CREF, MGC34837 Yes No Ensembl:ENSG00000162598, GeneCard:C1orf87, HGNC:HGNC:28547, HumanCyc Gene:HS08698, ModBase:Q8N0U7, NCBI Gene:127795, RefSeq DNA:NT_032977, RefSeq Protein:NP_689590, RefSeq RNA:NM_152377, UniProtKB:Q8N0U7 No chr1 60456066 60539442 59990394 60073770 +PA142672478 84970 HGNC:28250 ENSG00000142698 chromosome 1 open reading frame 94 C1orf94 MGC15882 Yes No Ensembl:ENSG00000142698, GeneCard:C1orf94, HGNC:HGNC:28250, HumanCyc Gene:HS13938, ModBase:Q6P1W5, NCBI Gene:84970, RefSeq DNA:NT_032977, RefSeq Protein:NP_001128206, RefSeq Protein:NP_116273, RefSeq RNA:NM_001134734, RefSeq RNA:NM_032884, UniProtKB:Q6P1W5 No chr1 34632624 34684732 34166883 34219131 +PA25622 712 HGNC:1241 ENSG00000173372 complement C1q A chain C1QA complement component 1, q subcomponent, A chain Yes No Comparative Toxicogenomics Database:712, Ensembl:ENSG00000173372, GenAtlas:C1QA, GeneCard:C1QA, HGNC:HGNC:1241, HumanCyc Gene:HS10656, ModBase:P02745, NCBI Gene:712, OMIM:120550, RefSeq DNA:NG_007282, RefSeq DNA:NT_004610, RefSeq Protein:NP_057075, RefSeq RNA:NM_015991, UCSC Genome Browser:NM_015991, UniProtKB:P02745 No chr1 22963118 22966175 22636625 22639682 +PA25623 713 HGNC:1242 ENSG00000173369 complement C1q B chain C1QB complement component 1, q subcomponent, B chain Yes No Comparative Toxicogenomics Database:713, Ensembl:ENSG00000173369, GenAtlas:C1QB, GeneCard:C1QB, HGNC:HGNC:1242, HumanCyc Gene:HS10655, ModBase:P02746, NCBI Gene:713, OMIM:120570, RefSeq DNA:NG_007283, RefSeq DNA:NT_004610, RefSeq Protein:NP_000482, RefSeq RNA:NM_000491, UCSC Genome Browser:NM_000491, UniProtKB:P02746 No chr1 22979682 22988130 22653189 22661536 +PA25624 708 HGNC:1243 ENSG00000108561 complement C1q binding protein C1QBP """C1q globular domain-binding protein"", ""complement component 1, q subcomponent binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein""" HABP1, SF2p32, gC1Q-R, gC1qR, p32 Yes No Comparative Toxicogenomics Database:708, Ensembl:ENSG00000108561, GenAtlas:C1QBP, GeneCard:C1QBP, HGNC:HGNC:1243, HumanCyc Gene:HS03125, ModBase:Q07021, NCBI Gene:708, OMIM:601269, RefSeq DNA:NT_010718, RefSeq Protein:NP_001203, RefSeq RNA:NM_001212, UCSC Genome Browser:NM_001212, UniProtKB:Q07021 No chr17 5336099 5342471 5432779 5439151 +PA25626 714 HGNC:1245 ENSG00000159189 complement C1q C chain C1QC complement component 1, q subcomponent, C chain C1QG Yes No Comparative Toxicogenomics Database:714, Ensembl:ENSG00000159189, GenAtlas:C1QC, GeneCard:C1QC, HGNC:HGNC:1245, HumanCyc Gene:HS08369, ModBase:P02747, NCBI Gene:714, OMIM:120575, RefSeq DNA:NG_007565, RefSeq DNA:NT_004610, RefSeq Protein:NP_001107573, RefSeq Protein:NP_758957, RefSeq RNA:NM_001114101, RefSeq RNA:NM_172369, UCSC Genome Browser:NM_172369, UniProtKB:P02747 No chr1 22969969 22974603 22643625 22648110 +PA134951551 10882 HGNC:24182 ENSG00000131094 complement C1q like 1 C1QL1 complement component 1, q subcomponent-like 1 C1QRF, C1QTNF14, CRF, CTRP14 Yes No Ensembl:ENSG00000131094, GeneCard:C1QL1, HGNC:HGNC:24182, HumanCyc Gene:HS05486, ModBase:O75973, NCBI Gene:10882, OMIM:611586, RefSeq DNA:NT_010783, RefSeq Protein:NP_006679, RefSeq RNA:NM_006688, UniProtKB:O75973 No chr17 43037061 43045644 44959693 44968276 +PA134915960 165257 HGNC:24181 ENSG00000144119 complement C1q like 2 C1QL2 """C1q and tumor necrosis factor related protein 10"", ""complement component 1, q subcomponent-like 2""" C1QTNF10, CTRP10 Yes No Ensembl:ENSG00000144119, GeneCard:C1QL2, HGNC:HGNC:24181, ModBase:Q7Z5L3, NCBI Gene:165257, RefSeq DNA:NT_022135, RefSeq Protein:NP_872334, RefSeq RNA:NM_182528, UniProtKB:Q7Z5L3 No chr2 119913819 119916471 119156243 119158895 +PA134891919 389941 HGNC:19359 ENSG00000165985 complement C1q like 3 C1QL3 complement component 1, q subcomponent-like 3 C1QTNF13, C1ql, CTRP13, K100 Yes No Ensembl:ENSG00000165985, GeneCard:C1QL3, HGNC:HGNC:19359, ModBase:Q5VWW1, NCBI Gene:389941, RefSeq DNA:NT_008705, RefSeq Protein:NP_001010908, RefSeq RNA:NM_001010908, UniProtKB:Q5VWW1 No chr10 16555742 16564004 16513743 16522005 +PA142672536 338761 HGNC:31416 ENSG00000186897 complement C1q like 4 C1QL4 complement component 1, q subcomponent-like 4 C1QTNF11, CTRP11 Yes No Ensembl:ENSG00000186897, GeneCard:C1QL4, HGNC:HGNC:31416, ModBase:Q86Z23, NCBI Gene:338761, RefSeq DNA:NT_029419, RefSeq Protein:NP_001008224, RefSeq RNA:NM_001008223, UniProtKB:Q86Z23 No chr12 49726200 49730971 49332409 49337195 +PA25628 114897 HGNC:14324 ENSG00000173918 C1q and TNF related 1 C1QTNF1 C1q and tumor necrosis factor related protein 1, G protein coupled receptor interacting protein CTRP1, FLJ90694, GIP, ZSIG37 Yes No Ensembl:ENSG00000173918, GenAtlas:C1QTNF1, GeneCard:C1QTNF1, HGNC:HGNC:14324, HumanCyc Gene:HS10750, ModBase:Q9BXJ1, NCBI Gene:114897, OMIM:610365, RefSeq DNA:NT_010783, RefSeq Protein:NP_112230, RefSeq Protein:NP_940995, RefSeq Protein:NP_940996, RefSeq RNA:NM_030968, RefSeq RNA:NM_198593, RefSeq RNA:NM_198594, UCSC Genome Browser:NM_030968, UniProtKB:Q9BXJ1 No chr17 77019016 77045870 79022934 79049788 +PA162386101 388581 HGNC:32308 ENSG00000184163 C1q and TNF related 12 C1QTNF12 """adipose-derived insulin-sensitizing factor"", ""family with sequence similarity 132, member A""" C1QDC2, C1QTNF12, CTRP12, FAM132A, MGC105127, adipolin Yes No Ensembl:ENSG00000184163, GeneCard:FAM132A, HGNC:HGNC:32308, ModBase:Q5T7M4, NCBI Gene:388581, RefSeq DNA:NT_004350, RefSeq Protein:NP_001014980, RefSeq RNA:NM_001014980, UniProtKB:Q5T7M4 No chr1 1177826 1182102 1242446 1247218 +PA25629 114898 HGNC:14325 ENSG00000145861 C1q and TNF related 2 C1QTNF2 C1q and tumor necrosis factor related protein 2 CTRP2 Yes No Comparative Toxicogenomics Database:114898, Ensembl:ENSG00000145861, GenAtlas:C1QTNF2, GeneCard:C1QTNF2, HGNC:HGNC:14325, HumanCyc Gene:HS07293, ModBase:Q9BXJ5, NCBI Gene:114898, RefSeq DNA:NT_023133, RefSeq Protein:NP_114114, RefSeq RNA:NM_031908, UCSC Genome Browser:NM_031908, UniProtKB:Q9BXJ5 No chr5 159774761 159797657 160347558 160370656 +PA25630 114899 HGNC:14326 ENSG00000082196 C1q and TNF related 3 C1QTNF3 C1q and tumor necrosis factor related protein 3, cartonectin 2310005P21Rik, CTRP3, Corcs, Cors, Cors-26 Yes No Ensembl:ENSG00000082196, GenAtlas:C1QTNF3, GeneCard:C1QTNF3, HGNC:HGNC:14326, ModBase:Q9BXJ4, NCBI Gene:114899, OMIM:612045, RefSeq DNA:NT_006576, RefSeq Protein:NP_112207, RefSeq Protein:NP_852100, RefSeq RNA:NM_030945, RefSeq RNA:NM_181435, UCSC Genome Browser:NM_030945, UniProtKB:Q0VAN4, UniProtKB:Q542Y2, UniProtKB:Q9BXJ4 No chr5 34017963 34043371 34017858 34043266 +PA25631 114900 HGNC:14346 ENSG00000172247 C1q and TNF related 4 C1QTNF4 C1q and tumor necrosis factor related protein 4, complement-c1q tumor necrosis factor-related protein 4 CTRP4, ZACRP4 Yes No Ensembl:ENSG00000172247, GenAtlas:C1QTNF4, GeneCard:C1QTNF4, HGNC:HGNC:14346, HumanCyc Gene:HS16063, ModBase:Q9BXJ3, NCBI Gene:114900, RefSeq DNA:NT_009237, RefSeq Protein:NP_114115, RefSeq RNA:NM_031909, UCSC Genome Browser:NM_031909, UniProtKB:Q9BXJ3 No chr11 47611216 47615961 47589664 47596336 +PA25632 114902 HGNC:14344 ENSG00000223953 C1q and TNF related 5 C1QTNF5 C1q and tumor necrosis factor related protein 5, complement C1q tumor necrosis factor-related protein 5 precursor variant 3, complement-c1q tumor necrosis factor-related protein 5, myonectin CTRP5, DKFZp586B0621, LORD Yes No Comparative Toxicogenomics Database:114902, Ensembl:ENSG00000223953, GenAtlas:C1QTNF5, GeneCard:C1QTNF5, HGNC:HGNC:14344, ModBase:Q9BXJ0, NCBI Gene:114902, OMIM:605670, OMIM:608752, RefSeq DNA:NG_009626, RefSeq DNA:NG_012235, RefSeq DNA:NT_033899, RefSeq Protein:NP_056460, RefSeq RNA:NM_015645, UCSC Genome Browser:NM_015645 No chr11 119209644 119217383 119338934 119346673 +PA25633 114904 HGNC:14343 ENSG00000133466 C1q and TNF related 6 C1QTNF6 C1q and tumor necrosis factor related protein 6 CTRP6, ZACRP6 Yes Yes Comparative Toxicogenomics Database:114904, Ensembl:ENSG00000133466, GenAtlas:C1QTNF6, GeneCard:C1QTNF6, HGNC:HGNC:14343, HumanCyc Gene:HS05766, NCBI Gene:114904, RefSeq DNA:NT_011520, RefSeq Protein:NP_114116, RefSeq Protein:NP_872292, RefSeq RNA:NM_031910, RefSeq RNA:NM_182486, UCSC Genome Browser:NM_031910, UniProtKB:Q9BXI9 No chr22 37576206 37594341 37180166 37199400 +PA25634 114905 HGNC:14342 ENSG00000163145 C1q and TNF related 7 C1QTNF7 C1q and tumor necrosis factor related protein 7 CTRP7 Yes Yes Comparative Toxicogenomics Database:114905, Ensembl:ENSG00000163145, GenAtlas:C1QTNF7, GeneCard:C1QTNF7, HGNC:HGNC:14342, HumanCyc Gene:HS08793, ModBase:Q9BXJ2, NCBI Gene:114905, RefSeq DNA:NT_006316, RefSeq Protein:NP_001128642, RefSeq Protein:NP_001128643, RefSeq Protein:NP_114117, RefSeq RNA:NM_001135170, RefSeq RNA:NM_001135171, RefSeq RNA:NM_031911, UCSC Genome Browser:NM_031911, UniProtKB:Q9BXJ2 No chr4 15341560 15447791 15339818 15446169 +PA134914298 390664 HGNC:31374 ENSG00000184471 C1q and TNF related 8 C1QTNF8 C1q and tumor necrosis factor related protein 8 CTRP8, UNQ5829 Yes No Ensembl:ENSG00000184471, GeneCard:C1QTNF8, HGNC:HGNC:31374, ModBase:P60827, NCBI Gene:390664, RefSeq DNA:NT_010393, RefSeq Protein:NP_997302, RefSeq RNA:NM_207419, UniProtKB:P60827 No chr16 1138226 1146244 1088226 1096306 +PA145008937 338872 HGNC:28732 ENSG00000240654 C1q and TNF related 9 C1QTNF9 C1q and tumor necrosis factor related protein 9 AQL1, C1QTNF9A, CTRP9, MGC48915 Yes No Ensembl:ENSG00000240654, GeneCard:C1QTNF9, HGNC:HGNC:28732, ModBase:P0C862, NCBI Gene:338872, RefSeq DNA:NT_024524, RefSeq Protein:NP_848635, RefSeq RNA:NM_178540, UniProtKB:P0C862 No chr13 24883686 24896669 24307166 24322531 +PA166049017 387911 HGNC:34072 ENSG00000205863 C1q and TNF related 9B C1QTNF9B C1q and tumor necrosis factor related protein 9B CTRP9B Yes No Ensembl:ENSG00000205863, HGNC:HGNC:34072, NCBI Gene:387911 No chr13 24465238 24471145 23891099 23898541 +PA25635 715 HGNC:1246 ENSG00000159403 complement C1r C1R complement component 1, r subcomponent Yes No Comparative Toxicogenomics Database:715, Ensembl:ENSG00000159403, GenAtlas:C1R, GeneCard:C1R, HGNC:HGNC:1246, HumanCyc Gene:HS08400, NCBI Gene:715, OMIM:216950, RefSeq DNA:NT_009714, RefSeq DNA:NT_009759, RefSeq Protein:NP_001724, RefSeq RNA:NM_001733, UCSC Genome Browser:NM_001733, UniProtKB:P00736 No chr12 +PA134957759 51279 HGNC:21265 ENSG00000139178 complement C1r subcomponent like C1RL complement component 1, r subcomponent-like C1RL1, C1r-LP Yes No Comparative Toxicogenomics Database:51279, Ensembl:ENSG00000139178, GeneCard:C1RL, HGNC:HGNC:21265, HumanCyc Gene:HS06588, ModBase:Q9NZP8, NCBI Gene:51279, OMIM:608974, RefSeq DNA:NT_009714, RefSeq Protein:NP_057630, RefSeq RNA:NM_016546, UniProtKB:Q9NZP8 No chr12 7246000 7261869 7093662 7109278 +PA25636 716 HGNC:1247 ENSG00000182326 complement C1s C1S complement component 1, s subcomponent Yes No Comparative Toxicogenomics Database:716, Ensembl:ENSG00000182326, GenAtlas:C1S, GeneCard:C1S, HGNC:HGNC:1247, HumanCyc Gene:HS00050, ModBase:Q9UCV4, NCBI Gene:716, OMIM:120580, RefSeq DNA:NG_011694, RefSeq DNA:NT_009759, RefSeq Protein:NP_001725, RefSeq Protein:NP_958850, RefSeq RNA:NM_001734, RefSeq RNA:NM_201442, UCSC Genome Browser:NM_001734, UniProtKB:P09871 No chr12 7167819 7178336 7060676 7071032 +PA25637 717 HGNC:1248 ENSG00000166278, ENSG00000204364, ENSG00000206372, ENSG00000226560, ENSG00000231543, ENSG00000235017, ENSG00000235696 complement C2 C2 complement component 2 Yes Yes Comparative Toxicogenomics Database:717, Ensembl:ENSG00000166278, Ensembl:ENSG00000204364, Ensembl:ENSG00000206372, Ensembl:ENSG00000226560, Ensembl:ENSG00000231543, Ensembl:ENSG00000235017, Ensembl:ENSG00000235696, GenAtlas:C2, GeneCard:C2, HGNC:HGNC:1248, HumanCyc Gene:HS09368, HumanCyc Gene:HS11458, ModBase:P06681, NCBI Gene:717, OMIM:217000, OMIM:603075, RefSeq DNA:NG_000013, RefSeq DNA:NG_004658, RefSeq DNA:NG_005163, RefSeq DNA:NG_011730, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_000054, RefSeq Protein:NP_001139375, RefSeq Protein:NP_001171534, RefSeq RNA:NM_000063, RefSeq RNA:NM_001145903, RefSeq RNA:NM_001178063, UCSC Genome Browser:NM_000063, UniProtKB:B4DPF3, UniProtKB:B4DV20, UniProtKB:P06681, UniProtKB:Q53HP3, UniProtKB:Q5JP69 No chr6 31865562 31913449 31897785 31945674 +PA166352367 HGNC:16103 chromosome 20 open reading frame 109 C20orf109 dJ1168M15.1 Yes No HGNC:HGNC:16103 No 0 0 0 0 +PA25684 128653 HGNC:16134 ENSG00000258713 chromosome 20 open reading frame 141 C20orf141 dJ860F19.4 Yes No Ensembl:ENSG00000258713, GenAtlas:C20orf141, GeneCard:C20orf141, HGNC:HGNC:16134, NCBI Gene:128653, RefSeq DNA:NT_011387, RefSeq Protein:NP_542777, RefSeq RNA:NM_080739, UCSC Genome Browser:NM_080739, UniProtKB:Q9NUB4 No chr20 2795633 2796476 2814987 2815830 +PA25687 128864 HGNC:16137 ENSG00000149609 chromosome 20 open reading frame 144 C20orf144 bcl-2-like protein from testis bclt, dJ63M2.6 Yes No Ensembl:ENSG00000149609, GenAtlas:C20orf144, GeneCard:C20orf144, HGNC:HGNC:16137, HumanCyc Gene:HS14296, NCBI Gene:128864, RefSeq DNA:NT_011362, RefSeq Protein:NP_543015, RefSeq RNA:NM_080825, UCSC Genome Browser:NM_080825, UniProtKB:Q1AHR2, UniProtKB:Q9BQM9 No chr20 32250092 32251721 33662286 33663915 +PA25716 140873 HGNC:16166 ENSG00000125975 chromosome 20 open reading frame 173 C20orf173 dJ477O4.4 Yes No Ensembl:ENSG00000125975, GenAtlas:C20orf173, GeneCard:C20orf173, HGNC:HGNC:16166, HumanCyc Gene:HS13191, NCBI Gene:140873, RefSeq DNA:NT_011362, RefSeq Protein:NP_001138822, RefSeq RNA:NM_001145350, RefSeq RNA:NR_026933, UCSC Genome Browser:NM_080828, UniProtKB:Q96LM9 No chr20 34108569 34117481 35520741 35529652 +PA25725 100128998 HGNC:16174 ENSG00000279610 chromosome 20 open reading frame 181 C20orf181 dJ824A14.1 Yes No Ensembl:ENSG00000279610, GenAtlas:C20orf181, GeneCard:C20orf181, HGNC:HGNC:16174, NCBI Gene:100128998, RefSeq DNA:NT_011333, RefSeq RNA:XR_078567, RefSeq RNA:XR_078912, RefSeq RNA:XR_079420, RefSeq RNA:XR_109593 No chr20 62463962 62479665 63843262 63848312 +PA165392338 400831 HGNC:37254 ENSG00000215595 chromosome 20 open reading frame 202 C20orf202 Yes No Ensembl:ENSG00000215595, GeneCard:C20orf202, HGNC:HGNC:37254, NCBI Gene:400831, RefSeq DNA:NT_011387, RefSeq Protein:NP_001009612, RefSeq RNA:NM_001009612, UniProtKB:A1L168 No chr20 1184098 1188918 1203454 1208274 +PA165392347 284805 HGNC:26592 ENSG00000198547 chromosome 20 open reading frame 203 C20orf203 FLJ33706 Yes No Ensembl:ENSG00000198547, GeneCard:C20orf203, HGNC:HGNC:26592, NCBI Gene:284805, RefSeq DNA:NT_011362, RefSeq Protein:NP_872390, RefSeq RNA:NM_182584, RefSeq RNA:NR_026959, UniProtKB:Q8NBC4 No chr20 31219427 31261743 32631625 32651981 +PA165392421 284739 HGNC:27655 ENSG00000196421 chromosome 20 open reading frame 204 C20orf204 long intergenic non-protein coding RNA 176 DKFZp434G015, FLJ27267, LINC00176, NCRNA00176, PRR17 Yes No Ensembl:ENSG00000196421, GeneCard:NCRNA00176, HGNC:HGNC:27655, ModBase:Q6ZNR8, NCBI Gene:284739, RefSeq DNA:NT_011333, RefSeq DNA:NT_011333.5, RefSeq Protein:NP_997232, RefSeq RNA:NM_207349, RefSeq RNA:NM_207349.1, RefSeq RNA:NR_027686, RefSeq RNA:NR_027687, UniProtKB:Q6ZNR8 No chr20 62665697 62671315 64034344 64039962 +PA166352366 HGNC:16199 chromosome 20 open reading frame 66 C20orf66 bA379F14.2 Yes No HGNC:HGNC:16199 No 0 0 0 0 +PA25803 140680 HGNC:16227 ENSG00000196476 chromosome 20 open reading frame 96 C20orf96 dJ1103G7.2 Yes No Ensembl:ENSG00000196476, GenAtlas:C20orf96, GeneCard:C20orf96, HGNC:HGNC:16227, ModBase:Q9NUD7, NCBI Gene:140680, RefSeq DNA:NT_011387, RefSeq Protein:NP_542138, RefSeq Protein:NP_695001, RefSeq RNA:NM_080571, RefSeq RNA:NM_153269, UCSC Genome Browser:NM_153269, UniProtKB:Q9NUD7 No chr20 251504 271419 270863 290778 +PA166352372 HGNC:19726 chromosome 21 open reading frame 114 C21orf114 PRED75 Yes No HGNC:HGNC:19726 No 0 0 0 0 +PA166352373 101928147 HGNC:39602 chromosome 21 open reading frame 140 C21orf140 FAM243A Yes No HGNC:HGNC:39602, NCBI Gene:101928147 No 0 0 0 0 +PA166352368 HGNC:1272 chromosome 21 open reading frame 32 C21orf32 putative gene with similarities to yeast gene YDL038c Yes No HGNC:HGNC:1272 No 0 0 0 0 +PA25853 54058 HGNC:1300 ENSG00000160298 chromosome 21 open reading frame 58 C21orf58 Yes No Ensembl:ENSG00000160298, GenAtlas:C21orf58, GeneCard:C21orf58, HGNC:HGNC:1300, HumanCyc Gene:HS14804, ModBase:P58505, NCBI Gene:54058, RefSeq DNA:NT_011515, RefSeq Protein:NP_478060, RefSeq RNA:NM_058180, UCSC Genome Browser:NM_058180, UniProtKB:P58505 No chr21 47720344 47743813 46300426 46323899 +PA166352369 HGNC:16026 chromosome 21 open reading frame 72 C21orf72 PRED50 Yes No HGNC:HGNC:16026 No 0 0 0 0 +PA166352370 HGNC:16340 chromosome 21 open reading frame 79 C21orf79 PRED24 Yes No HGNC:HGNC:16340 No 0 0 0 0 +PA166352371 HGNC:54202 chromosome 21 open reading frame 86 C21orf86 Yes No HGNC:HGNC:54202 No 0 0 0 0 +PA25879 54149 HGNC:16459 ENSG00000154642 chromosome 21 open reading frame 91 C21orf91 cold sore susceptibility gene 1, early undifferentiated retina and lens BTG3-7:1, C21orf14, C21orf38, CSSG1, EURL, YG81 Yes No Ensembl:ENSG00000154642, GenAtlas:C21orf91, GeneCard:C21orf91, HGNC:HGNC:16459, HumanCyc Gene:HS14530, ModBase:Q9NYK6, NCBI Gene:54149, RefSeq DNA:NT_011512, RefSeq Protein:NP_001093890, RefSeq Protein:NP_001093891, RefSeq Protein:NP_059143, RefSeq RNA:NM_001100420, RefSeq RNA:NM_001100421, RefSeq RNA:NM_017447, UCSC Genome Browser:NM_017447, UniProtKB:Q68DA1, UniProtKB:Q9NYK6 No chr21 19161284 19191703 17788967 17819386 +PA134933953 150248 HGNC:15558 ENSG00000169314 chromosome 22 open reading frame 15 C22orf15 FLJ36561, N27C7-3 Yes No Ensembl:ENSG00000169314, GeneCard:C22orf15, HGNC:HGNC:15558, NCBI Gene:150248, RefSeq DNA:NT_011520, RefSeq Protein:NP_872326, RefSeq RNA:NM_182520, UniProtKB:B5MCJ5, UniProtKB:Q8WYQ4 No chr22 24102622 24108050 23762522 23765863 +PA38355 84645 HGNC:18589 ENSG00000128346 chromosome 22 open reading frame 23 C22orf23 EVG1, FLJ32787, LOC84645 Yes No Ensembl:ENSG00000128346, GenAtlas:C22orf23, GeneCard:C22orf23, HGNC:HGNC:18589, HumanCyc Gene:HS05185, NCBI Gene:84645, RefSeq DNA:NT_011520, RefSeq Protein:NP_001193991, RefSeq Protein:NP_115950, RefSeq RNA:NM_001207062, RefSeq RNA:NM_032561, UCSC Genome Browser:NM_032561, UniProtKB:Q9BZE7 No chr22 38339057 38349676 37943050 37953669 +PA145149441 25770 HGNC:26931 ENSG00000100249 chromosome 22 open reading frame 31 C22orf31 HS747E2A, bK747E2.1 Yes No Ensembl:ENSG00000100249, GeneCard:C22orf31, HGNC:HGNC:26931, HumanCyc Gene:HS12397, ModBase:O95567, NCBI Gene:25770, RefSeq DNA:NT_011520, RefSeq Protein:NP_056185, RefSeq RNA:NM_015370, UniProtKB:O95567 No chr22 29454660 29457922 29058672 29073974 +PA162378995 128977 HGNC:27012 ENSG00000242259 chromosome 22 open reading frame 39 C22orf39 Plasticity Associated Neural Transcript Short MGC74441, Pants Yes No Ensembl:ENSG00000242259, GeneCard:C22orf39, HGNC:HGNC:27012, NCBI Gene:128977, RefSeq DNA:NT_011519, RefSeq Protein:NP_001159714, RefSeq Protein:NP_776154, RefSeq RNA:NM_001166242, RefSeq RNA:NM_173793, UniProtKB:Q6P5X5 No chr22 19428409 19435755 19440886 19448232 +PA164717091 150297 HGNC:27160 ENSG00000205856 chromosome 22 open reading frame 42 C22orf42 Yes No Ensembl:ENSG00000205856, GeneCard:C22orf42, HGNC:HGNC:27160, NCBI Gene:150297, RefSeq DNA:NT_011520, RefSeq Protein:NP_001010859, RefSeq RNA:NM_001010859, UniProtKB:Q6IC83 No chr22 32544993 32555510 32149006 32160448 +PA165378333 79640 HGNC:26294 ENSG00000184208 chromosome 22 open reading frame 46 C22orf46 CTA-216E10.6, FLJ23584 Yes No Ensembl:ENSG00000184208, GeneCard:C22orf46, HGNC:HGNC:26294, NCBI Gene:79640, RefSeq DNA:NT_011520, RefSeq Protein:NP_001136436, RefSeq RNA:NM_001142964, UniProtKB:C9J442 No chr22 42086547 42094140 41688939 41698136 +PA162379018 25966 HGNC:1266 ENSG00000157617 C2 calcium dependent domain containing 2 C2CD2 C2 calcium-dependent domain containing 2, TMEM24-like C21orf25, C21orf258, DKFZP586F0422, TMEM24L Yes No Ensembl:ENSG00000157617, GeneCard:C2CD2, HGNC:HGNC:1266, ModBase:Q9Y426, NCBI Gene:25966, RefSeq DNA:NT_011515, RefSeq Protein:NP_056315, RefSeq Protein:NP_950251, RefSeq RNA:NM_015500, RefSeq RNA:NM_199050, UniProtKB:Q9Y426 No chr21 43305219 43374066 41885110 41953957 +PA162379049 9854 HGNC:29000 ENSG00000172375 C2CD2 like C2CD2L C2CD2-like KIAA0285, TMEM24 Yes No Ensembl:ENSG00000172375, GeneCard:C2CD2L, HGNC:HGNC:29000, ModBase:O14523, NCBI Gene:9854, RefSeq DNA:NT_033899, RefSeq Protein:NP_055622, RefSeq RNA:NM_014807, UniProtKB:O14523 No chr11 118977771 118988304 119107061 119118543 +PA162379082 26005 HGNC:24564 ENSG00000168014 C2 domain containing 3 centriole elongation regulator C2CD3 C2 calcium dependent domain containing 3, C2 calcium-dependent domain containing 3 DKFZP586P0123 Yes No Ensembl:ENSG00000168014, GeneCard:C2CD3, HGNC:HGNC:24564, NCBI Gene:26005, RefSeq DNA:NT_167190, RefSeq Protein:NP_056346, RefSeq RNA:NM_015531, UniProtKB:Q4AC94 No chr11 73723759 73882064 74012578 74171210 +PA165478510 145741 HGNC:33627 ENSG00000198535 C2 calcium dependent domain containing 4A C2CD4A C2 calcium-dependent domain containing 4A, nuclear localized factor 1 FAM148A, NLF1 Yes No Ensembl:ENSG00000198535, GeneCard:C2CD4A, HGNC:HGNC:33627, ModBase:Q8NCU7, NCBI Gene:145741, OMIM:610343, RefSeq DNA:NT_010194, RefSeq DNA:NT_010194.16, RefSeq Protein:NP_997205, RefSeq RNA:NM_207322, RefSeq RNA:NM_207322.2, UniProtKB:Q8NCU7 No chr15 62359176 62363116 62066977 62070917 +PA165478519 388125 HGNC:33628 ENSG00000205502 C2 calcium dependent domain containing 4B C2CD4B C2 calcium-dependent domain containing 4B, nuclear localized factor 2 FAM148B, NLF2 Yes No Ensembl:ENSG00000205502, GeneCard:C2CD4B, HGNC:HGNC:33628, ModBase:A6NLJ0, NCBI Gene:388125, OMIM:610344, RefSeq DNA:NT_010194, RefSeq DNA:NT_010194.16, RefSeq Protein:NP_001007596, RefSeq RNA:NM_001007595, RefSeq RNA:NM_001007595.2, UniProtKB:A6NLJ0 No chr15 62455734 62458359 62163535 62165732 +PA165393218 126567 HGNC:29417 ENSG00000183186 C2 calcium dependent domain containing 4C C2CD4C C2 calcium-dependent domain containing 4C, nuclear localized factor 3 FAM148C, KIAA1957, NLF3 Yes No Ensembl:ENSG00000183186, GeneCard:C2CD4C, HGNC:HGNC:29417, ModBase:Q8TF44, NCBI Gene:126567, OMIM:610336, RefSeq DNA:NT_011255, RefSeq DNA:NT_011255.14, RefSeq Protein:NP_001129735, RefSeq Protein:XP_001718892, RefSeq Protein:XP_065166, RefSeq Protein:XP_944669, RefSeq RNA:NM_001136263, RefSeq RNA:NM_001136263.1, RefSeq RNA:XM_001718840, RefSeq RNA:XM_001718840.1, RefSeq RNA:XM_065166, RefSeq RNA:XM_065166.5, RefSeq RNA:XM_939576, RefSeq RNA:XM_939576.3, UniProtKB:Q8TF44 No chr19 405443 409170 405435 409170 +PA165750504 100191040 HGNC:37210 ENSG00000225556 C2 calcium dependent domain containing 4D C2CD4D """C2 calcium-dependent domain containing 4D"", ""family with sequence similarity 148, member D""" FAM148D Yes No Ensembl:ENSG00000225556, GeneCard:C2CD4D, HGNC:HGNC:37210, NCBI Gene:100191040, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129475, RefSeq RNA:NM_001136003, UniProtKB:B7Z1M9 No chr1 151810339 151813033 151837818 151840557 +PA143485515 9847 HGNC:29062 ENSG00000111731 C2 calcium dependent domain containing 5 C2CD5 138 kDa C2 domain-containing phosphoprotein, C2 calcium-dependent domain containing 5 CDP138, KIAA0528 Yes No Ensembl:ENSG00000111731, GeneCard:KIAA0528, HGNC:HGNC:29062, ModBase:Q86YS7, NCBI Gene:9847, RefSeq DNA:NT_009714, RefSeq Protein:NP_055617, RefSeq RNA:NM_014802, UniProtKB:Q86YS7 No chr12 22601511 22697452 22448546 22544546 +PA24734 151254 HGNC:14438 ENSG00000155754 C2 calcium dependent domain containing 6 C2CD6 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 ALS2CR11, FLJ25351 Yes No Ensembl:ENSG00000155754, GenAtlas:ALS2CR11, GeneCard:ALS2CR11, HGNC:HGNC:14438, HumanCyc Gene:HS14584, ModBase:Q53TS8, NCBI Gene:151254, RefSeq DNA:NT_005403, RefSeq Protein:NP_001161688, RefSeq Protein:NP_001161689, RefSeq Protein:NP_001161693, RefSeq Protein:NP_689738, RefSeq RNA:NM_001168216, RefSeq RNA:NM_001168217, RefSeq RNA:NM_001168221, RefSeq RNA:NM_152525, UniProtKB:C9IZH7, UniProtKB:Q53TS8 No chr2 202352144 202483905 201487421 201619182 +PA134861678 150590 HGNC:28436 ENSG00000273045 chromosome 2 open reading frame 15 C2orf15 MGC29762 Yes No Ensembl:ENSG00000273045, GeneCard:C2orf15, HGNC:HGNC:28436, NCBI Gene:150590, RefSeq DNA:NT_022171, RefSeq Protein:NP_653307, RefSeq RNA:NM_144706, UniProtKB:Q8WU43 No chr2 99758185 99767950 99141613 99151487 +PA164717121 29798 HGNC:25077 ENSG00000287151 chromosome 2 open reading frame 27A C2orf27A Yes No Ensembl:ENSG00000287151, GeneCard:C2orf27A, HGNC:HGNC:25077, NCBI Gene:29798, RefSeq DNA:NT_022135, RefSeq Protein:NP_037442, RefSeq RNA:NM_013310 No chr2 132479973 132524977 131722491 131767404 +PA147358740 54980 HGNC:26056 ENSG00000115998 chromosome 2 open reading frame 42 C2orf42 FLJ20558 Yes No Ensembl:ENSG00000115998, GeneCard:C2orf42, HGNC:HGNC:26056, HumanCyc Gene:HS03965, ModBase:Q9NWW7, NCBI Gene:54980, RefSeq DNA:NT_022184, RefSeq Protein:NP_060350, RefSeq RNA:NM_017880, UniProtKB:Q9NWW7 No chr2 70377017 70418151 70149885 70191071 +PA162379179 79074 HGNC:28772 ENSG00000135974 chromosome 2 open reading frame 49 C2orf49 ashwin MGC5509, asw Yes No Ensembl:ENSG00000135974, GeneCard:C2orf49, HGNC:HGNC:28772, HumanCyc Gene:HS13603, ModBase:Q9BVC5, NCBI Gene:79074, RefSeq DNA:NT_022171, RefSeq Protein:NP_076998, RefSeq RNA:NM_024093, UniProtKB:Q9BVC5 No chr2 105953714 105976514 105337257 105359940 +PA162379428 401027 HGNC:33809 ENSG00000187944 chromosome 2 open reading frame 66 C2orf66 UNQ6411 Yes No Ensembl:ENSG00000187944, GeneCard:C2orf66, HGNC:HGNC:33809, NCBI Gene:401027, RefSeq DNA:NT_005403, RefSeq Protein:NP_998773, RefSeq RNA:NM_213608, UniProtKB:Q6UXQ4 No chr2 197669139 197675000 196804415 196810276 +PA162379474 388969 HGNC:34353 ENSG00000168887 chromosome 2 open reading frame 68 C2orf68 Yes No Ensembl:ENSG00000168887, GeneCard:C2orf68, HGNC:HGNC:34353, NCBI Gene:388969, RefSeq DNA:NT_022184, RefSeq Protein:NP_001013671, RefSeq RNA:NM_001013649, UniProtKB:Q2NKX9 No chr2 85832376 85839179 85605253 85612073 +PA162379487 205327 HGNC:26799 ENSG00000178074 chromosome 2 open reading frame 69 C2orf69 hypothetical protein FLJ38973 FLJ38973 Yes No Ensembl:ENSG00000178074, GeneCard:C2orf69, HGNC:HGNC:26799, HumanCyc Gene:HS16980, NCBI Gene:205327, RefSeq DNA:NT_005403, RefSeq Protein:NP_710156, RefSeq RNA:NM_153689, UniProtKB:Q8N8R5 No chr2 200775979 200792996 199911256 199928273 +PA162379516 257407 HGNC:27418 ENSG00000204128 chromosome 2 open reading frame 72 C2orf72 chromosome 2 open reading frame 72 C2orf72, LOC257407 Yes No Ensembl:ENSG00000204128, GeneCard:C2orf72, HGNC:HGNC:27418, NCBI Gene:257407, RefSeq DNA:NT_005403, RefSeq Protein:NP_001138466, RefSeq RNA:NM_001144994 No chr2 231902281 231914429 231037566 231049714 +PA162379547 339804 HGNC:34439 ENSG00000237651 chromosome 2 open reading frame 74 C2orf74 LOC339804 Yes No Ensembl:ENSG00000237651, GeneCard:C2orf74, HGNC:HGNC:34439, NCBI Gene:339804, RefSeq DNA:NT_022184, RefSeq Protein:NP_001137431, RefSeq Protein:NP_001137432, RefSeq RNA:NM_001143959, RefSeq RNA:NM_001143960, UniProtKB:A8MZ97, UniProtKB:C9JBF1 No chr2 61372221 61391964 61145068 61164830 +PA162379558 130355 HGNC:27017 ENSG00000186132 chromosome 2 open reading frame 76 C2orf76 AIM29, LOC130355, MGC104437 Yes No Ensembl:ENSG00000186132, GeneCard:C2orf76, HGNC:HGNC:27017, NCBI Gene:130355, RefSeq DNA:NT_022135, RefSeq Protein:NP_001017927, RefSeq RNA:NM_001017927, UniProtKB:B7ZLS8, UniProtKB:Q3KRA6 No chr2 120059793 120124451 119281472 119366879 +PA162379600 388960 HGNC:34349 ENSG00000187833 chromosome 2 open reading frame 78 C2orf78 COG5373, FLJ43987, hCG1989538 Yes No Ensembl:ENSG00000187833, GeneCard:C2orf78, HGNC:HGNC:34349, NCBI Gene:388960, RefSeq DNA:NT_022184, RefSeq Protein:NP_001073943, RefSeq RNA:NM_001080474, UniProtKB:B9A009 No chr2 74011316 74044274 73784189 73817148 +PA162379620 389073 HGNC:34352 ENSG00000188674 chromosome 2 open reading frame 80 C2orf80 gonad development associated 1 GONDA1, LOC389073 Yes No Ensembl:ENSG00000188674, GeneCard:C2orf80, HGNC:HGNC:34352, NCBI Gene:389073, RefSeq DNA:NT_005403, RefSeq Protein:NP_001092804, RefSeq RNA:NM_001099334, UniProtKB:Q0P641 No chr2 209030071 209054969 208165347 208190258 +PA162379643 388963 HGNC:34350 ENSG00000284308 chromosome 2 open reading frame 81 C2orf81 LOC388963, hCG40743 Yes No Ensembl:ENSG00000284308, GeneCard:C2orf81, HGNC:HGNC:34350, NCBI Gene:388963, RefSeq DNA:NT_022184, RefSeq Protein:NP_001138526, RefSeq RNA:NM_001145054 No chr2 74641303 74644934 74414176 74421630 +PA164717227 84281 HGNC:28191 ENSG00000187699 chromosome 2 open reading frame 88 C2orf88 small membrane AKAP MGC13057, smAKAP Yes No Ensembl:ENSG00000187699, GeneCard:C2orf88, HGNC:HGNC:28191, NCBI Gene:84281, RefSeq DNA:NT_005403, RefSeq Protein:NP_001035984, RefSeq Protein:NP_001035985, RefSeq Protein:NP_001035986, RefSeq Protein:NP_115697, RefSeq RNA:NM_001042519, RefSeq RNA:NM_001042520, RefSeq RNA:NM_001042521, RefSeq RNA:NM_032321, UniProtKB:Q9BSF0 No chr2 190744282 191068210 189879479 190203484 +PA166180568 728537 HGNC:49272 ENSG00000228486 chromosome 2 open reading frame 92 C2orf92 LINC01125 Yes No Ensembl:ENSG00000228486, HGNC:HGNC:49272, NCBI Gene:728537 No 0 0 0 0 +PA25897 718 HGNC:1318 ENSG00000125730 complement C3 C3 C3a anaphylatoxin, complement component 3, complement component C3a, complement component C3b, prepro-C3 ARMD9, C3a, C3b, CPAMD1 Yes Yes Comparative Toxicogenomics Database:718, Ensembl:ENSG00000125730, GenAtlas:C3, GeneCard:C3, HGNC:HGNC:1318, HumanCyc Gene:HS04918, ModBase:P01024, NCBI Gene:718, OMIM:120700, OMIM:611378, OMIM:612925, RefSeq DNA:NG_009557, RefSeq DNA:NT_011255, RefSeq Protein:NP_000055, RefSeq RNA:NM_000064, UCSC Genome Browser:NM_000064, UniProtKB:P01024 No chr19 6677846 6720662 6677835 6720682 +PA25898 719 HGNC:1319 ENSG00000171860 complement C3a receptor 1 C3AR1 complement component 3a receptor 1 AZ3B, C3AR Yes No Comparative Toxicogenomics Database:719, Ensembl:ENSG00000171860, GenAtlas:C3AR1, GeneCard:C3AR1, HGNC:HGNC:1319, HumanCyc Gene:HS10402, IUPHAR Receptor:31, ModBase:Q16581, NCBI Gene:719, OMIM:605246, RefSeq DNA:NT_009714, RefSeq Protein:NP_004045, RefSeq RNA:NM_004054, UCSC Genome Browser:NM_004054, UniProtKB:A8K2H7, UniProtKB:Q16581 No chr12 8210919 8218955 8058323 8066359 +PA25899 23739 HGNC:1320 chromosome 3 common eliminated region 1 C3CER1 CER1 Yes No GenAtlas:C3CER1, GeneCard:C3CER1, HGNC:HGNC:1320, NCBI Gene:23739 No chr3 +PA134941482 51161 HGNC:24837 ENSG00000088543 chromosome 3 open reading frame 18 C3orf18 G20 Yes No Ensembl:ENSG00000088543, GeneCard:C3orf18, HGNC:HGNC:24837, HumanCyc Gene:HS12308, ModBase:Q9UK00, NCBI Gene:51161, RefSeq DNA:NT_022517, RefSeq Protein:NP_001165211, RefSeq Protein:NP_001165212, RefSeq Protein:NP_001165214, RefSeq Protein:NP_057294, RefSeq RNA:NM_001171740, RefSeq RNA:NM_001171741, RefSeq RNA:NM_001171743, RefSeq RNA:NM_016210, UniProtKB:C9JNP0 No chr3 50595456 50608458 50558025 50574835 +PA134977176 84077 HGNC:25320 ENSG00000131379 chromosome 3 open reading frame 20 C3orf20 DKFZP434N1817 Yes No Ensembl:ENSG00000131379, GeneCard:C3orf20, HGNC:HGNC:25320, HumanCyc Gene:HS05518, NCBI Gene:84077, RefSeq DNA:NT_022517, RefSeq Protein:NP_001171886, RefSeq Protein:NP_001171887, RefSeq Protein:NP_115513, RefSeq RNA:NM_001184957, RefSeq RNA:NM_001184958, RefSeq RNA:NM_032137, UniProtKB:Q8ND61 No chr3 14716606 14814543 14673532 14773036 +PA142672383 152065 HGNC:28534 ENSG00000180697 chromosome 3 open reading frame 22 C3orf22 MGC34728 Yes No Ensembl:ENSG00000180697, GeneCard:C3orf22, HGNC:HGNC:28534, HumanCyc Gene:HS17546, ModBase:Q8N5N4, NCBI Gene:152065, RefSeq DNA:NT_005612, RefSeq Protein:NP_689746, RefSeq RNA:NM_152533, UniProtKB:Q8N5N4 No chr3 126245842 126277808 126524439 126558965 +PA142672394 285315 HGNC:26434 ENSG00000174928 chromosome 3 open reading frame 33 C3orf33 AC3-33, FLJ31139 Yes No Ensembl:ENSG00000174928, GeneCard:C3orf33, HGNC:HGNC:26434, HumanCyc Gene:HS16409, ModBase:Q6P1S2, NCBI Gene:285315, RefSeq DNA:NT_005612, RefSeq Protein:NP_775928, RefSeq RNA:NM_173657, UniProtKB:Q96NB5 No chr3 155480401 155524076 155762612 155806287 +PA142672397 80111 HGNC:26170 ENSG00000288547 chromosome 3 open reading frame 36 C3orf36 FLJ22173 Yes No Ensembl:ENSG00000288547, GeneCard:C3orf36, HGNC:HGNC:26170, NCBI Gene:80111, RefSeq DNA:NT_005612, RefSeq Protein:NP_079317, RefSeq RNA:NM_025041, UniProtKB:Q3SXR2 No chr3 133646989 133648656 133928145 133929812 +PA142672399 285237 HGNC:28384 ENSG00000179021 chromosome 3 open reading frame 38 C3orf38 dense incisors MGC26717 Yes No Ensembl:ENSG00000179021, GeneCard:C3orf38, HGNC:HGNC:28384, NCBI Gene:285237, RefSeq DNA:NT_022459, RefSeq Protein:NP_776185, RefSeq RNA:NM_173824, UniProtKB:Q5JPI3 No chr3 88198875 88207115 88149713 88157965 +PA143485326 132200 HGNC:25190 ENSG00000163632 chromosome 3 open reading frame 49 C3orf49 Yes No Ensembl:ENSG00000163632, GeneCard:C3orf49, HGNC:HGNC:25190, HumanCyc Gene:HS15090, NCBI Gene:132200, RefSeq DNA:NT_022517, RefSeq RNA:NM_001355236 No chr3 63805041 63834312 63819365 63848636 +PA143485328 79669 HGNC:26255 ENSG00000114529 chromosome 3 open reading frame 52 C3orf52 TPA induced trans-membrane protein FLJ23186, TTMP Yes No Ensembl:ENSG00000114529, GeneCard:C3orf52, HGNC:HGNC:26255, HumanCyc Gene:HS12819, NCBI Gene:79669, OMIM:611956, RefSeq DNA:NT_005612, RefSeq Protein:NP_001165218, RefSeq Protein:NP_078892, RefSeq RNA:NM_001171747, RefSeq RNA:NM_024616, UniProtKB:Q5BVD1 No chr3 111805175 111837073 112086335 112131095 +PA166352329 HGNC:26589 chromosome 3 open reading frame 53 C3orf53 FLJ33651 Yes No HGNC:HGNC:26589 No 0 0 0 0 +PA143485337 375341 HGNC:24771 ENSG00000188315 chromosome 3 open reading frame 62 C3orf62 male pachynema-specific protein FLJ43654, MAPS Yes No Ensembl:ENSG00000188315, GeneCard:C3orf62, HGNC:HGNC:24771, ModBase:Q6ZUJ4, NCBI Gene:375341, RefSeq DNA:NT_022517, RefSeq Protein:NP_940964, RefSeq RNA:NM_198562, UniProtKB:Q6ZUJ4 No chr3 49306030 49314864 49268597 49277075 +PA162379707 285382 HGNC:33731 ENSG00000187068 chromosome 3 open reading frame 70 C3orf70 Yes No Ensembl:ENSG00000187068, GeneCard:C3orf70, HGNC:HGNC:33731, ModBase:A6NLC5, NCBI Gene:285382, RefSeq DNA:NT_005612, RefSeq Protein:NP_001020437, RefSeq RNA:NM_001025266, UniProtKB:A6NLC5 No chr3 184795838 184870802 185078050 185153014 +PA166049066 401097 HGNC:40048 ENSG00000180044 chromosome 3 open reading frame 80 C3orf80 Yes No Ensembl:ENSG00000180044, HGNC:HGNC:40048, NCBI Gene:401097 No chr3 159943423 159946000 160225636 160228213 +PA166180569 401081 HGNC:53432 ENSG00000241224 chromosome 3 open reading frame 85 C3orf85 FLJ22763 Yes No Ensembl:ENSG00000241224, HGNC:HGNC:53432, NCBI Gene:401081 No 0 0 0 0 +PA25903 720 HGNC:1323 ENSG00000244731 complement C4A (Chido/Rodgers blood group) C4A complement C4A (Rodgers blood group), complement component 4A (Rodgers blood group) C4, C4A2, C4A3, C4A4, C4A6, C4B, C4S, CO4, CPAMD2, RG Yes No Comparative Toxicogenomics Database:720, Ensembl:ENSG00000244731, GenAtlas:C4A, GeneCard:C4A, HGNC:HGNC:1323, ModBase:Q9NPK5, NCBI Gene:720, OMIM:120810, OMIM:152700, RefSeq DNA:NG_004658, RefSeq DNA:NG_011638, RefSeq DNA:NT_007592, RefSeq DNA:NT_167245, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_009224, RefSeq RNA:NM_007293, UCSC Genome Browser:NM_007293, UniProtKB:P0C0L4, UniProtKB:Q6P4R1 No chr6 31949834 31970457 31982057 32002680 +PA25904 721 HGNC:1324 ENSG00000224389, ENSG00000228267 complement C4B (Chido/Rodgers blood group) C4B complement C4B (Chido blood group), complement component 4B (Chido blood group) C4B1, C4B3, C4F, CH, CO4, CPAMD3 Yes No Comparative Toxicogenomics Database:721, Ensembl:ENSG00000224389, Ensembl:ENSG00000228267, GenAtlas:C4B, GeneCard:C4B, HGNC:HGNC:1324, HumanCyc Gene:HS09372, ModBase:Q9UIP5, NCBI Gene:721, OMIM:120820, RefSeq DNA:NG_000013, RefSeq DNA:NG_004658, RefSeq DNA:NG_005163, RefSeq DNA:NG_011639, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167249, RefSeq Protein:NP_001002029, RefSeq Protein:XP_003403643, RefSeq Protein:XP_003403644, RefSeq RNA:NM_001002029, RefSeq RNA:XM_003403595, RefSeq RNA:XM_003403596, UCSC Genome Browser:NM_000592, UniProtKB:A7E2V2, UniProtKB:P0C0L5, UniProtKB:Q6U2E9 No chr6 31982572 32003195 32014795 32035418 +PA166049083 100293534 HGNC:42398 ENSG00000233312 complement component 4B (Chido/Rodgers blood group), copy 2 C4B_2 complement component 4B (Chido blood group), copy 2 Yes No Ensembl:ENSG00000233312, HGNC:HGNC:42398, NCBI Gene:100293534 No chr6 3282544 3303168 3283246 3303870 +PA25905 722 HGNC:1325 ENSG00000123838 complement component 4 binding protein alpha C4BPA complement component 4 binding protein, alpha C4BP Yes No Comparative Toxicogenomics Database:722, Ensembl:ENSG00000123838, GenAtlas:C4BPA, GeneCard:C4BPA, HGNC:HGNC:1325, HumanCyc Gene:HS04691, ModBase:P04003, NCBI Gene:722, OMIM:120830, RefSeq DNA:NT_167186, RefSeq Protein:NP_000706, RefSeq RNA:NM_000715, UCSC Genome Browser:NM_000715, UniProtKB:P04003, UniProtKB:Q5VVQ8 No chr1 207277583 207318317 207104232 207144972 +PA25906 727859 HGNC:1326 ENSG00000224462 complement component 4 binding protein, alpha pseudogene 1 C4BPAP1 Yes No Ensembl:ENSG00000224462, GenAtlas:C4BPAL1, GeneCard:C4BPAP1, HGNC:HGNC:1326, NCBI Gene:727859, RefSeq DNA:NG_006475, RefSeq DNA:NT_167186 No chr1 207338840 207357406 207165495 207184061 +PA25907 724 HGNC:1327 ENSG00000232621 complement component 4 binding protein, alpha pseudogene 2 C4BPAP2 Yes No Ensembl:ENSG00000232621, GenAtlas:C4BPAL2, GeneCard:C4BPAP2, HGNC:HGNC:1327, NCBI Gene:724, RefSeq DNA:NG_002761, RefSeq DNA:NT_167186 No chr1 207399143 207402547 207225798 207229202 +PA25908 725 HGNC:1328 ENSG00000123843 complement component 4 binding protein beta C4BPB """C4b binding protein, beta chain"", ""complement component 4 binding protein, beta"", ""complement component 4 binding protein, beta chain""" C4BP Yes No Comparative Toxicogenomics Database:725, Ensembl:ENSG00000123843, GenAtlas:C4BPB, GeneCard:C4BPB, HGNC:HGNC:1328, HumanCyc Gene:HS04692, ModBase:P20851, NCBI Gene:725, OMIM:120831, RefSeq DNA:NT_167186, RefSeq Protein:NP_000707, RefSeq Protein:NP_001017364, RefSeq Protein:NP_001017365, RefSeq Protein:NP_001017366, RefSeq Protein:NP_001017367, RefSeq RNA:NM_000716, RefSeq RNA:NM_001017364, RefSeq RNA:NM_001017365, RefSeq RNA:NM_001017366, RefSeq RNA:NM_001017367, UCSC Genome Browser:NM_000716, UniProtKB:P20851 No chr1 207262210 207273338 207088826 207099993 +PA134913125 84103 HGNC:25274 ENSG00000138813 chromosome 4 open reading frame 17 C4orf17 DKFZP434G072 Yes No Ensembl:ENSG00000138813, GeneCard:C4orf17, HGNC:HGNC:25274, HumanCyc Gene:HS13747, NCBI Gene:84103, RefSeq DNA:NT_016354, RefSeq Protein:NP_115525, RefSeq RNA:NM_032149, UniProtKB:Q53FE4 No chr4 100432161 100463460 99511004 99542303 +PA162379743 132321 HGNC:27025 ENSG00000151470 chromosome 4 open reading frame 33 C4orf33 FLJ33703 Yes No Ensembl:ENSG00000151470, GeneCard:C4orf33, HGNC:HGNC:27025, HumanCyc Gene:HS14370, NCBI Gene:132321, RefSeq DNA:NT_016354, RefSeq Protein:NP_001093253, RefSeq Protein:NP_775758, RefSeq RNA:NM_001099783, RefSeq RNA:NM_173487, UniProtKB:Q8N1A6 No chr4 130014829 130034487 129093674 129112688 +PA162379784 132989 HGNC:28386 ENSG00000163633 chromosome 4 open reading frame 36 C4orf36 MGC26744 Yes No Ensembl:ENSG00000163633, GeneCard:C4orf36, HGNC:HGNC:28386, HumanCyc Gene:HS15091, NCBI Gene:132989, RefSeq DNA:NT_016354, RefSeq Protein:NP_653246, RefSeq RNA:NM_144645, UniProtKB:Q96KX1 No chr4 87797358 87824820 86876205 86897256 +PA162379968 201725 HGNC:27320 ENSG00000205208 chromosome 4 open reading frame 46 C4orf46 renal cancer differentiation gene 1 LOC201725, RCDG1 Yes No Ensembl:ENSG00000205208, GeneCard:C4orf46, HGNC:HGNC:27320, NCBI Gene:201725, RefSeq DNA:NT_016354, RefSeq Protein:NP_001008394, RefSeq RNA:NM_001008393, UniProtKB:Q504U0 No chr4 159587827 159593407 158666675 158672255 +PA165663217 389197 HGNC:33766 ENSG00000181215 chromosome 4 open reading frame 50 C4orf50 FLJ46481 Yes No Ensembl:ENSG00000181215, GeneCard:C4orf50, HGNC:HGNC:33766, NCBI Gene:389197, RefSeq DNA:NT_006051, RefSeq Protein:NP_997288, RefSeq Protein:XP_003118572, RefSeq RNA:NM_207405, RefSeq RNA:XM_003118524 No chr4 5899318 5992175 5897591 6018762 +PA165663246 646603 HGNC:37264 ENSG00000237136 chromosome 4 open reading frame 51 C4orf51 Yes No Ensembl:ENSG00000237136, GeneCard:C4orf51, HGNC:HGNC:37264, NCBI Gene:646603, RefSeq DNA:NT_016354, RefSeq Protein:NP_001074000, RefSeq RNA:NM_001080531, UniProtKB:C9J302 No chr4 146601356 146653949 145680103 145792248 +PA166180570 285556 HGNC:27741 ENSG00000248713 chromosome 4 open reading frame 54 C4orf54 familial obliterative portal venopathy FOPV, LOC285556 Yes No Ensembl:ENSG00000248713, HGNC:HGNC:27741, NCBI Gene:285556 No 0 0 0 0 +PA25911 727 HGNC:1331 ENSG00000106804 complement C5 C5 C5a anaphylatoxin, complement component 5, prepro-C5 C5a, C5b, CPAMD4 Yes Yes Comparative Toxicogenomics Database:727, Ensembl:ENSG00000106804, GenAtlas:C5, GeneCard:C5, HGNC:HGNC:1331, HumanCyc Gene:HS02953, ModBase:P01031, NCBI Gene:727, OMIM:120900, OMIM:609536, RefSeq DNA:NG_007364, RefSeq DNA:NT_008470, RefSeq Protein:NP_001726, RefSeq RNA:NM_001735, UCSC Genome Browser:NM_001735, UniProtKB:P01031 No chr9 123714613 123812554 120952335 121075174 +PA25920 728 HGNC:1338 ENSG00000197405 complement C5a receptor 1 C5AR1 complement component 5a receptor 1 C5A, C5AR, C5R1, CD88 Yes No Comparative Toxicogenomics Database:728, Ensembl:ENSG00000197405, GenAtlas:C5AR1, GeneCard:C5AR1, HGNC:HGNC:1338, IUPHAR Receptor:32, ModBase:P21730, NCBI Gene:728, OMIM:113995, RefSeq DNA:NT_011109, RefSeq Protein:NP_001727, RefSeq RNA:NM_001736, UCSC Genome Browser:NM_001736, UniProtKB:P21730 No chr19 47813104 47825327 47309847 47322070 +PA28920 27202 HGNC:4527 ENSG00000134830 complement C5a receptor 2 C5AR2 complement component 5a receptor 2 C5L2, GPR77 Yes No Comparative Toxicogenomics Database:27202, Ensembl:ENSG00000134830, GenAtlas:GPR77, GeneCard:GPR77, HGNC:HGNC:4527, HumanCyc Gene:HS05920, IUPHAR Receptor:33, ModBase:Q9P296, NCBI Gene:27202, OMIM:609949, RefSeq DNA:NT_011109, RefSeq Protein:NP_060955, RefSeq RNA:NM_018485, UCSC Genome Browser:NM_018485, UniProtKB:Q9P296 No chr19 47835404 47845272 47331614 47342080 +PA134898147 56951 HGNC:20656 ENSG00000113583 chromosome 5 open reading frame 15 C5orf15 keratinocyte associated transmembrane protein 2, keratinocytes associated transmembrane protein 2 HTGN29, KCT2 Yes No Ensembl:ENSG00000113583, GeneCard:C5orf15, HGNC:HGNC:20656, HumanCyc Gene:HS12797, ModBase:Q8NC54, NCBI Gene:56951, RefSeq DNA:NT_034772, RefSeq Protein:NP_064584, RefSeq RNA:NM_020199, UniProtKB:Q8NC54 No chr5 133291198 133304406 133955507 133968715 +PA144596503 55322 HGNC:25639 ENSG00000082213 chromosome 5 open reading frame 22 C5orf22 FLJ11193 Yes Yes Ensembl:ENSG00000082213, GeneCard:C5orf22, HGNC:HGNC:25639, HumanCyc Gene:HS12268, NCBI Gene:55322, RefSeq DNA:NT_006576, RefSeq Protein:NP_060826, RefSeq RNA:NM_018356, UniProtKB:Q49AR2 No chr5 31532373 31555165 31532086 31555058 +PA144596505 134553 HGNC:26746 ENSG00000181904 chromosome 5 open reading frame 24 C5orf24 FLJ37562 Yes No Ensembl:ENSG00000181904, GeneCard:C5orf24, HGNC:HGNC:26746, HumanCyc Gene:HS17747, ModBase:Q7Z6I8, NCBI Gene:134553, RefSeq DNA:NT_034772, RefSeq Protein:NP_001129058, RefSeq Protein:NP_689622, RefSeq RNA:NM_001135586, RefSeq RNA:NM_152409, UniProtKB:Q7Z6I8 No chr5 134181370 134195425 134833603 134859735 +PA162380068 375444 HGNC:24738 ENSG00000172244 chromosome 5 open reading frame 34 C5orf34 FLJ32363 Yes No Ensembl:ENSG00000172244, GeneCard:C5orf34, HGNC:HGNC:24738, ModBase:Q96MH7, NCBI Gene:375444, RefSeq DNA:NT_006576, RefSeq Protein:NP_940968, RefSeq RNA:NM_198566, UniProtKB:Q96MH7 No chr5 43486803 43515273 43486699 43515433 +PA162380158 153571 HGNC:24226 ENSG00000186493 chromosome 5 open reading frame 38 C5orf38 IRX2 neighbor, coordinated expression to IRX2 CEI, IRX2NB Yes No Ensembl:ENSG00000186493, GeneCard:C5orf38, HGNC:HGNC:24226, NCBI Gene:153571, OMIM:610522, RefSeq DNA:NT_006576, RefSeq Protein:NP_848664, RefSeq RNA:NM_178569, UniProtKB:Q86SI9 No chr5 2752058 2755511 2751940 2758576 +PA162380305 389336 HGNC:33768 ENSG00000178776 chromosome 5 open reading frame 46 C5orf46 skin and saliva secreted protein 1 AP-64, MGC23985, SSSP1 Yes No Ensembl:ENSG00000178776, GeneCard:C5orf46, HGNC:HGNC:33768, NCBI Gene:389336, RefSeq DNA:NT_029289, RefSeq Protein:NP_996849, RefSeq RNA:NM_206966, UniProtKB:Q6UWT4 No chr5 147269579 147286101 147850463 147906594 +PA162380318 133491 HGNC:27026 ENSG00000185056 chromosome 5 open reading frame 47 C5orf47 LOC133491 Yes No Ensembl:ENSG00000185056, GeneCard:C5orf47, HGNC:HGNC:27026, NCBI Gene:133491, RefSeq DNA:NT_023133, RefSeq Protein:NP_001138426, RefSeq RNA:NM_001144954, UniProtKB:Q569G3 No chr5 173416162 173433143 173989159 174007524 +PA164717340 100190949 HGNC:35121 ENSG00000187658 chromosome 5 open reading frame 52 C5orf52 Yes No Ensembl:ENSG00000187658, GeneCard:C5orf52, HGNC:HGNC:35121, NCBI Gene:100190949, RefSeq DNA:NT_023133, RefSeq Protein:NP_001138604, RefSeq RNA:NM_001145132, UniProtKB:A6NGY3 No chr5 157098561 157107162 157671237 157680176 +PA165660191 441108 HGNC:33838 chromosome 5 open reading frame 56 C5orf56 Yes Yes GeneCard:C5orf56, HGNC:HGNC:33838, NCBI Gene:441108, RefSeq DNA:NT_034772, RefSeq Protein:NP_001013739, RefSeq Protein:NP_001193930, RefSeq Protein:NP_001193931, RefSeq Protein:NP_001193932, RefSeq RNA:NM_001013717, RefSeq RNA:NM_001207002, RefSeq RNA:NM_001207003, RefSeq RNA:NR_161242, UniProtKB:Q8N8D9 No chr5 131746465 131811736 132410773 132476044 +PA165660204 133874 HGNC:37272 ENSG00000234511 chromosome 5 open reading frame 58 C5orf58 Yes No Ensembl:ENSG00000234511, GeneCard:C5orf58, HGNC:HGNC:37272, NCBI Gene:133874, RefSeq DNA:NT_023133, RefSeq Protein:NP_001096079, RefSeq RNA:NM_001102609, UniProtKB:C9J3I9 No chr5 169659916 169673235 170231730 170252569 +PA165660205 285679 HGNC:27753 ENSG00000204661 chromosome 5 open reading frame 60 C5orf60 Yes No Ensembl:ENSG00000204661, GeneCard:C5orf60, HGNC:HGNC:27753, NCBI Gene:285679, RefSeq DNA:NT_023133, RefSeq Protein:NP_001135778, RefSeq RNA:NM_001142306, RefSeq RNA:XR_078998, UniProtKB:A6NFR6 No chr5 179068545 179072083 179641542 179645167 +PA166123668 401207 HGNC:40051 ENSG00000164241 chromosome 5 open reading frame 63 C5orf63 FLJ44606, YDR286C Yes No Ensembl:ENSG00000164241, HGNC:HGNC:40051, NCBI Gene:401207 No chr5 +PA166048973 285668 HGNC:26744 ENSG00000178722 chromosome 5 open reading frame 64 C5orf64 FLJ37543 Yes No Ensembl:ENSG00000178722, HGNC:HGNC:26744, NCBI Gene:285668 No chr5 60933636 61002362 61637308 61759165 +PA166180571 101928448 HGNC:51252 ENSG00000225940 chromosome 5 open reading frame 67 C5orf67 Yes No Ensembl:ENSG00000225940, HGNC:HGNC:51252, NCBI Gene:101928448 No 0 0 0 0 +PA166352330 HGNC:17924 chromosome 5 open reading frame 9 C5orf9 Yes No HGNC:HGNC:17924 No 0 0 0 0 +PA25921 729 HGNC:1339 ENSG00000039537 complement C6 C6 complement component 6 Yes Yes Comparative Toxicogenomics Database:729, Ensembl:ENSG00000039537, GenAtlas:C6, GeneCard:C6, HGNC:HGNC:1339, HumanCyc Gene:HS00542, ModBase:P13671, NCBI Gene:729, OMIM:217050, OMIM:612446, RefSeq DNA:NG_011582, RefSeq DNA:NT_006576, RefSeq Protein:NP_000056, RefSeq Protein:NP_001108603, RefSeq RNA:NM_000065, RefSeq RNA:NM_001115131, UCSC Genome Browser:NM_000065, UniProtKB:P13671 No chr5 41142248 41261588 41142116 41261486 +PA134954942 168090 HGNC:21233 ENSG00000112539 chromosome 6 open reading frame 118 C6orf118 MGC23884, bA85G2.1 Yes No Comparative Toxicogenomics Database:168090, Ensembl:ENSG00000112539, GeneCard:C6orf118, HGNC:HGNC:21233, HumanCyc Gene:HS12779, ModBase:Q5T5N4, NCBI Gene:168090, RefSeq DNA:NT_025741, RefSeq Protein:NP_659417, RefSeq RNA:NM_144980, UniProtKB:Q5T5N4 No chr6 165693153 165723111 165279664 165309647 +PA134992326 387263 HGNC:21247 ENSG00000185127 chromosome 6 open reading frame 120 C6orf120 bA160E12.4 Yes No Ensembl:ENSG00000185127, GeneCard:C6orf120, HGNC:HGNC:21247, NCBI Gene:387263, RefSeq DNA:NT_025741, RefSeq Protein:NP_001025034, RefSeq RNA:NM_001029863, UniProtKB:Q7Z4R8 No chr6 170102238 170106402 169702112 169706358 +PA134935851 647024 HGNC:21288 ENSG00000188112 chromosome 6 open reading frame 132 C6orf132 cervical cancer lymphatic metastasis-associated lncRNA LncCCLM, bA7K24.2 Yes No Ensembl:ENSG00000188112, GeneCard:C6orf132, HGNC:HGNC:21288, NCBI Gene:647024, RefSeq DNA:NT_007592, RefSeq Protein:NP_001157918, RefSeq Protein:XP_001724365, RefSeq Protein:XP_935105, RefSeq Protein:XP_946637, RefSeq RNA:NM_001164446, RefSeq RNA:XM_001724313, RefSeq RNA:XM_930012, RefSeq RNA:XM_941544 No chr6 42068857 42110715 42101119 42142977 +PA134962744 221545 HGNC:21301 ENSG00000204564, ENSG00000206487, ENSG00000224120, ENSG00000233164, ENSG00000233641, ENSG00000237012, ENSG00000237100 chromosome 6 open reading frame 136 C6orf136 Em:AB023049.8 Yes No Ensembl:ENSG00000204564, Ensembl:ENSG00000206487, Ensembl:ENSG00000224120, Ensembl:ENSG00000233164, Ensembl:ENSG00000233641, Ensembl:ENSG00000237012, Ensembl:ENSG00000237100, GeneCard:C6orf136, HGNC:HGNC:21301, HumanCyc Gene:HS14876, ModBase:Q5SQH8, NCBI Gene:221545, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001103408, RefSeq Protein:NP_001154848, RefSeq Protein:NP_659466, RefSeq RNA:NM_001109938, RefSeq RNA:NM_001161376, RefSeq RNA:NM_145029, UniProtKB:A9R9P8, UniProtKB:A9R9P9, UniProtKB:Q0P5T2, UniProtKB:Q5SQH8 No chr6 30614816 30620987 30647039 30653210 +PA134885117 135398 HGNC:21351 ENSG00000197261 chromosome 6 open reading frame 141 C6orf141 MGC46457 Yes No Ensembl:ENSG00000197261, GeneCard:C6orf141, HGNC:HGNC:21351, NCBI Gene:135398, RefSeq DNA:NT_007592, RefSeq Protein:NP_001139124, RefSeq RNA:NM_001145652, UniProtKB:Q5SZD1 No chr6 49518113 49523166 49550400 49560934 +PA134866404 29113 HGNC:13927 ENSG00000204542, ENSG00000224105, ENSG00000225543, ENSG00000231624 chromosome 6 open reading frame 15 C6orf15 simian taste bud-specific gene STG Yes Yes Ensembl:ENSG00000204542, Ensembl:ENSG00000224105, Ensembl:ENSG00000225543, Ensembl:ENSG00000231624, GeneCard:C6orf15, HGNC:HGNC:13927, HumanCyc Gene:HS06315, ModBase:Q6UXA7, NCBI Gene:29113, OMIM:611401, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_054789, RefSeq RNA:NM_014070, UniProtKB:Q6UXA7 No chr6 31079000 31080332 31111223 31112555 +PA134938121 206412 HGNC:21403 ENSG00000203872 chromosome 6 open reading frame 163 C6orf163 Yes No Ensembl:ENSG00000203872, GeneCard:C6orf163, HGNC:HGNC:21403, NCBI Gene:206412, RefSeq DNA:NT_007299, RefSeq Protein:NP_001010868, RefSeq Protein:XP_001720141, RefSeq Protein:XP_001720687, RefSeq Protein:XP_001725594, RefSeq RNA:NM_001010868, RefSeq RNA:XM_001720089, RefSeq RNA:XM_001720635, RefSeq RNA:XM_001725542, UniProtKB:Q5TEZ5 No chr6 88054571 88075381 87343080 87365553 +PA134906041 404220 HGNC:21620 ENSG00000185689 chromosome 6 open reading frame 201 C6orf201 dJ1013A10.5 Yes No Ensembl:ENSG00000185689, GeneCard:C6orf201, HGNC:HGNC:21620, NCBI Gene:404220, RefSeq DNA:NT_007592, RefSeq Protein:NP_001078870, RefSeq RNA:NM_001085401, UniProtKB:B3KW47, UniProtKB:Q7Z4U5 No chr6 4079440 4131000 4079197 4130788 +PA166352333 HGNC:21621 chromosome 6 open reading frame 202 C6orf202 dJ182O16.3 Yes No HGNC:HGNC:21621 No 0 0 0 0 +PA166352334 HGNC:30986 chromosome 6 open reading frame 215 C6orf215 GT257 Yes No HGNC:HGNC:30986 No 0 0 0 0 +PA162380428 221416 HGNC:28692 ENSG00000181577 chromosome 6 open reading frame 223 C6orf223 MGC45491 Yes No Ensembl:ENSG00000181577, GeneCard:C6orf223, HGNC:HGNC:28692, HumanCyc Gene:HS17697, ModBase:Q8N319, NCBI Gene:221416, RefSeq DNA:NT_007592, RefSeq Protein:NP_001165463, RefSeq Protein:NP_694978, RefSeq RNA:NM_001171992, RefSeq RNA:NM_153246, UniProtKB:Q8N319 No chr6 43968337 43973695 43999515 44007615 +PA166352331 HGNC:17979 chromosome 6 open reading frame 36 C6orf36 Yes No HGNC:HGNC:17979 No 0 0 0 0 +PA38785 57827 HGNC:19076 ENSG00000204439 chromosome 6 open reading frame 47 C6orf47 D6S53E, G4 Yes No Ensembl:ENSG00000204439, GenAtlas:C6orf47, GeneCard:C6orf47, HGNC:HGNC:19076, HumanCyc Gene:HS11454, NCBI Gene:57827, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_067007, RefSeq RNA:NM_021184, UCSC Genome Browser:NM_021184, UniProtKB:O95873 No chr6 31626075 31628549 31658298 31660772 +PA166352332 HGNC:20481 chromosome 6 open reading frame 50 C6orf50 Yes No HGNC:HGNC:20481 No 0 0 0 0 +PA134991266 347744 HGNC:20881 ENSG00000137434 chromosome 6 open reading frame 52 C6orf52 Yes No Ensembl:ENSG00000137434, GeneCard:C6orf52, HGNC:HGNC:20881, NCBI Gene:347744, RefSeq DNA:NT_007592, RefSeq Protein:NP_001138492, RefSeq RNA:NM_001145020, RefSeq RNA:NR_026736, RefSeq RNA:NR_026737, UniProtKB:Q5T4I8 No chr6 10671651 10695030 10671418 10694797 +PA134881952 352999 HGNC:20960 ENSG00000184530 chromosome 6 open reading frame 58 C6orf58 liver enriched gene 1 homolog LEG1 Yes No Ensembl:ENSG00000184530, GeneCard:C6orf58, HGNC:HGNC:20960, NCBI Gene:352999, RefSeq DNA:NT_025741, RefSeq Protein:NP_001010905, RefSeq RNA:NM_001010905, UniProtKB:Q6P5S2 No chr6 127898319 127912963 127577174 127591818 +PA134946342 81688 HGNC:20998 ENSG00000112308 chromosome 6 open reading frame 62 C6orf62 HBV X-transactivated protein 12 DKFZP564G182, FLJ12619, XTP12 Yes No Comparative Toxicogenomics Database:81688, Ensembl:ENSG00000112308, GeneCard:C6orf62, HGNC:HGNC:20998, HumanCyc Gene:HS12769, ModBase:Q9GZU0, NCBI Gene:81688, RefSeq DNA:NT_007592, RefSeq Protein:NP_112201, RefSeq RNA:NM_030939, UniProtKB:Q9GZU0 No chr6 24705089 24721064 24704758 24720836 +PA134986915 221477 HGNC:21114 ENSG00000198663 chromosome 6 open reading frame 89 C6orf89 amfion, bombesin receptor activated protein BRAP, FLJ25357 Yes No Ensembl:ENSG00000198663, GeneCard:C6orf89, HGNC:HGNC:21114, NCBI Gene:221477, RefSeq DNA:NT_007592, RefSeq Protein:NP_689947, RefSeq RNA:NM_152734, UniProtKB:Q6UWU4 No chr6 36853640 36896740 36834886 36928964 +PA25941 730 HGNC:1346 ENSG00000112936 complement C7 C7 complement component 7 Yes No Comparative Toxicogenomics Database:730, Ensembl:ENSG00000112936, GenAtlas:C7, GeneCard:C7, HGNC:HGNC:1346, HumanCyc Gene:HS03631, ModBase:P10643, NCBI Gene:730, OMIM:217070, OMIM:610102, RefSeq DNA:NG_011692, RefSeq DNA:NT_006576, RefSeq Protein:NP_000578, RefSeq RNA:NM_000587, UCSC Genome Browser:NM_000587, UniProtKB:P10643, UniProtKB:Q05CI3 No chr5 40909599 40983041 40909497 40982939 +PA134976499 79020 HGNC:21703 ENSG00000136197 chromosome 7 open reading frame 25 C7orf25 MGC2821 Yes No Ensembl:ENSG00000136197, GeneCard:C7orf25, HGNC:HGNC:21703, HumanCyc Gene:HS13619, ModBase:Q9BPX7, NCBI Gene:79020, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001093328, RefSeq Protein:NP_076959, RefSeq RNA:NM_001099858, RefSeq RNA:NM_024054, UniProtKB:Q9BPX7 No chr7 42948223 42951689 42909273 42913161 +PA134962911 202865 HGNC:21724 ENSG00000170279 chromosome 7 open reading frame 33 C7orf33 Yes No Ensembl:ENSG00000170279, GeneCard:C7orf33, HGNC:HGNC:21724, HumanCyc Gene:HS15866, ModBase:Q8WU49, NCBI Gene:202865, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_660347, RefSeq RNA:NM_145304, UniProtKB:Q8WU49 No chr7 148287657 148312952 148590565 148615860 +PA162380546 84310 HGNC:22421 ENSG00000146540 chromosome 7 open reading frame 50 C7orf50 MGC11257, YCR016W Yes No Ensembl:ENSG00000146540, GeneCard:C7orf50, HGNC:HGNC:22421, HumanCyc Gene:HS14160, ModBase:Q9BRJ6, NCBI Gene:84310, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001127867, RefSeq Protein:NP_001127868, RefSeq Protein:NP_115726, RefSeq RNA:NM_001134395, RefSeq RNA:NM_001134396, RefSeq RNA:NM_032350, UniProtKB:Q9BRJ6 No chr7 1036623 1177911 978485 1138291 +PA162380613 136288 HGNC:22247 ENSG00000164746 chromosome 7 open reading frame 57 C7orf57 Yes No Ensembl:ENSG00000164746, GeneCard:C7orf57, HGNC:HGNC:22247, NCBI Gene:136288, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001093629, RefSeq RNA:NM_001100159, UniProtKB:Q8NEG2 No chr7 48075108 48100894 48035511 48061297 +PA166180572 154872 HGNC:51256 ENSG00000275356 chromosome 7 open reading frame 77 C7orf77 Yes No Ensembl:ENSG00000275356, HGNC:HGNC:51256, NCBI Gene:154872 No 0 0 0 0 +PA166352335 102725191 HGNC:55185 chromosome 7 open reading frame 78 C7orf78 Yes No HGNC:HGNC:55185, NCBI Gene:102725191 No 0 0 0 0 +PA25951 731 HGNC:1352 ENSG00000157131 complement C8 alpha chain C8A complement component 8, alpha polypeptide Yes No Comparative Toxicogenomics Database:731, Ensembl:ENSG00000157131, GenAtlas:C8A, GeneCard:C8A, HGNC:HGNC:1352, HumanCyc Gene:HS08183, ModBase:P07357, NCBI Gene:731, OMIM:120950, RefSeq DNA:NG_012049, RefSeq DNA:NT_032977, RefSeq Protein:NP_000553, RefSeq RNA:NM_000562, UCSC Genome Browser:NM_000562, UniProtKB:P07357 No chr1 57320443 57383894 56854770 56918221 +PA25952 732 HGNC:1353 ENSG00000021852 complement C8 beta chain C8B complement component 8, beta polypeptide Yes No Comparative Toxicogenomics Database:732, Ensembl:ENSG00000021852, GenAtlas:C8B, GeneCard:C8B, HGNC:HGNC:1353, HumanCyc Gene:HS00416, ModBase:P07358, NCBI Gene:732, OMIM:120960, RefSeq DNA:NG_007285, RefSeq DNA:NT_032977, RefSeq Protein:NP_000057, RefSeq RNA:NM_000066, UCSC Genome Browser:NM_000066, UniProtKB:P07358, UniProtKB:Q05CV3 No chr1 57394883 57433213 56929210 56974383 +PA25953 733 HGNC:1354 ENSG00000176919 complement C8 gamma chain C8G complement component 8, gamma polypeptide Yes No Comparative Toxicogenomics Database:733, Ensembl:ENSG00000176919, GenAtlas:C8G, GeneCard:C8G, HGNC:HGNC:1354, HumanCyc Gene:HS11103, ModBase:P07360, NCBI Gene:733, OMIM:120930, RefSeq DNA:NT_024000, RefSeq Protein:NP_000597, RefSeq RNA:NM_000606, UCSC Genome Browser:NM_000606, UniProtKB:P07360 No chr9 139839333 139841426 136944870 136946981 +PA166352337 HGNC:15627 chromosome 8 open reading frame 15 C8orf15 Yes No HGNC:HGNC:15627 No 0 0 0 0 +PA166352338 HGNC:15628 chromosome 8 open reading frame 16 C8orf16 Yes No HGNC:HGNC:15628 No 0 0 0 0 +PA25960 100507249 HGNC:17737 ENSG00000250733 chromosome 8 open reading frame 17 C8orf17 MOST-1 Yes No Ensembl:ENSG00000250733, GenAtlas:C8orf17, GeneCard:C8orf17, HGNC:HGNC:17737, NCBI Gene:100507249, RefSeq DNA:NT_008046, RefSeq Protein:NP_064622, RefSeq RNA:NM_020237, UCSC Genome Browser:NM_020237 No chr8 +PA142672352 65265 HGNC:26104 ENSG00000182307 chromosome 8 open reading frame 33 C8orf33 FLJ20989 Yes No Ensembl:ENSG00000182307, GeneCard:C8orf33, HGNC:HGNC:26104, ModBase:Q9H7E9, NCBI Gene:65265, RefSeq DNA:NT_037704, RefSeq Protein:NP_075568, RefSeq RNA:NM_023080, UniProtKB:Q9H7E9 No chr8 146277823 146281416 145052438 145056030 +PA142672353 116328 HGNC:30905 ENSG00000165084 chromosome 8 open reading frame 34 C8orf34 vestibule 1 VEST1, vest-1 Yes Yes Comparative Toxicogenomics Database:116328, Ensembl:ENSG00000165084, GeneCard:C8orf34, HGNC:HGNC:30905, HumanCyc Gene:HS15281, NCBI Gene:116328, RefSeq DNA:NT_008183, RefSeq Protein:NP_001182568, RefSeq Protein:NP_443190, RefSeq RNA:NM_001195639, RefSeq RNA:NM_052958, UniProtKB:Q49A92 No chr8 69242957 69731258 68330722 68819023 +PA142672363 56260 HGNC:25646 ENSG00000288596 chromosome 8 open reading frame 44 C8orf44 FLJ11267 Yes No Ensembl:ENSG00000288596, GeneCard:C8orf44, HGNC:HGNC:25646, NCBI Gene:56260, RefSeq DNA:NT_008183, RefSeq Protein:NP_062553, RefSeq RNA:NM_019607, UniProtKB:Q96CB5 No chr8 67579787 67597797 66667552 66681149 +PA142672367 157773 HGNC:26345 ENSG00000164743 chromosome 8 open reading frame 48 C8orf48 FLJ25402 Yes No Ensembl:ENSG00000164743, GeneCard:C8orf48, HGNC:HGNC:26345, HumanCyc Gene:HS15235, NCBI Gene:157773, RefSeq DNA:NT_167187, RefSeq Protein:NP_001007091, RefSeq RNA:NM_001007090, UniProtKB:Q96LL4 No chr8 13424352 13425797 13566843 13568288 +PA142672368 606553 HGNC:32200 chromosome 8 open reading frame 49 C8orf49 FLJ30972 Yes No GeneCard:C8orf49, HGNC:HGNC:32200, NCBI Gene:606553, RefSeq DNA:NT_077531, RefSeq RNA:XR_040402, RefSeq RNA:XR_040403, RefSeq RNA:XR_040404, RefSeq RNA:XR_110589 No chr8 11618765 11620732 11761256 11763223 +PA142672321 541565 HGNC:32233 ENSG00000241852 chromosome 8 open reading frame 58 C8orf58 FLJ34715 Yes No Ensembl:ENSG00000241852, GeneCard:C8orf58, HGNC:HGNC:32233, ModBase:Q8NAV2, NCBI Gene:541565, RefSeq DNA:NT_167187, RefSeq Protein:NP_001013864, RefSeq Protein:NP_001185756, RefSeq Protein:NP_775957, RefSeq RNA:NM_001013842, RefSeq RNA:NM_001198827, RefSeq RNA:NM_173686, UniProtKB:Q7Z758, UniProtKB:Q8NAV2 No chr8 22457114 22461663 22599601 22604150 +PA166352336 HGNC:15542 chromosome 8 open reading frame 6 C8orf6 Yes No HGNC:HGNC:15542 No 0 0 0 0 +PA142672337 203076 HGNC:32296 ENSG00000171060 chromosome 8 open reading frame 74 C8orf74 Yes No Ensembl:ENSG00000171060, GeneCard:C8orf74, HGNC:HGNC:32296, ModBase:Q6P047, NCBI Gene:203076, RefSeq DNA:NT_077531, RefSeq Protein:NP_001035121, RefSeq RNA:NM_001040032, UniProtKB:Q6P047 No chr8 10530147 10558103 10672557 10700616 +PA142672339 84933 HGNC:25924 ENSG00000189376 chromosome 8 open reading frame 76 C8orf76 FLJ14825 Yes No Ensembl:ENSG00000189376, GeneCard:C8orf76, HGNC:HGNC:25924, ModBase:Q96K31, NCBI Gene:84933, RefSeq DNA:NT_008046, RefSeq Protein:NP_116236, RefSeq RNA:NM_032847, UniProtKB:Q96K31 No chr8 124232196 124253656 123219956 123241398 +PA162380827 414919 HGNC:33826 ENSG00000213563 chromosome 8 open reading frame 82 C8orf82 MGC70857 Yes No Ensembl:ENSG00000213563, GeneCard:C8orf82, HGNC:HGNC:33826, NCBI Gene:414919, RefSeq DNA:NT_037704, RefSeq Protein:NP_001001795, RefSeq RNA:NM_001001795, UniProtKB:Q6P1X6 No chr8 145751599 145754485 144526219 144529074 +PA164717510 389649 HGNC:33774 ENSG00000196166 chromosome 8 open reading frame 86 C8orf86 FLJ43582 Yes No Ensembl:ENSG00000196166, GeneCard:C8orf86, HGNC:HGNC:33774, NCBI Gene:389649, RefSeq DNA:NT_167187, RefSeq Protein:NP_997295, RefSeq RNA:NM_207412, UniProtKB:Q6ZUL3 No chr8 38368352 38386180 38510834 38528662 +PA166123669 100127983 HGNC:44672 ENSG00000253250 chromosome 8 open reading frame 88 C8orf88 Yes No Ensembl:ENSG00000253250, HGNC:HGNC:44672, NCBI Gene:100127983 No +PA166123670 100130301 HGNC:51258 ENSG00000274443 chromosome 8 open reading frame 89 C8orf89 Yes No Ensembl:ENSG00000274443, HGNC:HGNC:51258, NCBI Gene:100130301 No +PA166352339 122455339 HGNC:56305 chromosome 8 open reading frame 90 C8orf90 Yes No HGNC:HGNC:56305, NCBI Gene:122455339 No 0 0 0 0 +PA25968 735 HGNC:1358 ENSG00000113600 complement C9 C9 complement component 9 Yes No Comparative Toxicogenomics Database:735, Ensembl:ENSG00000113600, GenAtlas:C9, GeneCard:C9, HGNC:HGNC:1358, HumanCyc Gene:HS03701, ModBase:P02748, NCBI Gene:735, OMIM:120940, RefSeq DNA:NG_009894, RefSeq DNA:NT_006576, RefSeq Protein:NP_001728, RefSeq RNA:NM_001737, UCSC Genome Browser:NM_001737, UniProtKB:P02748 No chr5 39284377 39364655 39284275 39364553 +PA134884589 445577 HGNC:31116 ENSG00000204352 chromosome 9 open reading frame 129 C9orf129 bA165J3.3 Yes No Ensembl:ENSG00000204352, GeneCard:C9orf129, HGNC:HGNC:31116, ModBase:Q5T035, NCBI Gene:445577, RefSeq DNA:NT_008470, RefSeq Protein:NP_001092278, RefSeq RNA:NM_001098808, UniProtKB:Q5T035 No chr9 96080481 96108696 93318199 93346414 +PA166352344 HGNC:26140 chromosome 9 open reading frame 149 C9orf149 FLJ21673 Yes No HGNC:HGNC:26140 No 0 0 0 0 +PA134988229 401546 HGNC:31455 ENSG00000188959 chromosome 9 open reading frame 152 C9orf152 bA470J20.2 Yes No Ensembl:ENSG00000188959, GeneCard:C9orf152, HGNC:HGNC:31455, NCBI Gene:401546, RefSeq DNA:NT_008470, RefSeq Protein:NP_001013011, RefSeq RNA:NM_001012993, UniProtKB:A8K2L3, UniProtKB:Q5JTZ5 No chr9 112961841 112970413 110199561 110208133 +PA134962664 389766 HGNC:31456 ENSG00000187753 chromosome 9 open reading frame 153 C9orf153 bA507D14.1 Yes No Ensembl:ENSG00000187753, GeneCard:C9orf153, HGNC:HGNC:31456, NCBI Gene:389766, RefSeq DNA:NT_008470, RefSeq Protein:NP_001010907, RefSeq RNA:NM_001010907, UniProtKB:Q5TBE3 No chr9 88835180 88874572 86220265 86259657 +PA144596496 158055 HGNC:26718 ENSG00000196366 chromosome 9 open reading frame 163 C9orf163 FLJ36779 Yes No Ensembl:ENSG00000196366, GeneCard:C9orf163, HGNC:HGNC:26718, NCBI Gene:158055, RefSeq DNA:NT_024000, RefSeq Protein:NP_689784, RefSeq RNA:NM_152571, UniProtKB:Q8N9P6, UniProtKB:Q96NJ1 No chr9 139377947 139380519 136483495 136486067 +PA166352340 HGNC:23374 chromosome 9 open reading frame 33 C9orf33 HFSE-1 Yes No HGNC:HGNC:23374 No 0 0 0 0 +PA166352341 HGNC:23398 chromosome 9 open reading frame 38 C9orf38 PRO0365 Yes No HGNC:HGNC:23398 No 0 0 0 0 +PA134870430 55071 HGNC:23433 ENSG00000135045 chromosome 9 open reading frame 40 C9orf40 FLJ10110 Yes No Ensembl:ENSG00000135045, GeneCard:C9orf40, HGNC:HGNC:23433, HumanCyc Gene:HS05940, ModBase:Q8IXQ3, NCBI Gene:55071, RefSeq DNA:NT_008470, RefSeq Protein:NP_060468, RefSeq RNA:NM_017998, UniProtKB:Q8IXQ3 No chr9 77561499 77567802 74946583 74952886 +PA134972642 257169 HGNC:23570 ENSG00000157653 chromosome 9 open reading frame 43 C9orf43 MGC17358 Yes No Ensembl:ENSG00000157653, GeneCard:C9orf43, HGNC:HGNC:23570, HumanCyc Gene:HS08232, ModBase:Q8TAL5, NCBI Gene:257169, RefSeq DNA:NT_008470, RefSeq Protein:NP_689999, RefSeq RNA:NM_152786, UniProtKB:Q8TAL5 No chr9 116172924 116191964 113410644 113429684 +PA134983814 286223 HGNC:23669 chromosome 9 open reading frame 47 C9orf47 C9orf108, FLJ37523, bA791O21.3 Yes No GeneCard:C9orf47, HGNC:HGNC:23669, ModBase:Q6ZRZ4, NCBI Gene:286223, RefSeq DNA:NT_008470, RefSeq Protein:NP_001001938, RefSeq Protein:NP_001135885, RefSeq RNA:NM_001001938, RefSeq RNA:NM_001142413, UniProtKB:Q6ZRZ4 No chr9 91605778 91611057 88990863 88996142 +PA142672314 375759 HGNC:23677 ENSG00000179058 chromosome 9 open reading frame 50 C9orf50 FLJ35803 Yes No Ensembl:ENSG00000179058, GeneCard:C9orf50, HGNC:HGNC:23677, ModBase:Q5SZB4, NCBI Gene:375759, RefSeq DNA:NT_008470, RefSeq Protein:NP_955382, RefSeq RNA:NM_199350, UniProtKB:Q5SZB4 No chr9 132374504 132383055 129612225 129622275 +PA166352342 HGNC:20950 chromosome 9 open reading frame 56 C9orf56 Yes No HGNC:HGNC:20950 No 0 0 0 0 +PA134955143 138240 HGNC:27037 ENSG00000204669 chromosome 9 open reading frame 57 C9orf57 Yes No Ensembl:ENSG00000204669, GeneCard:C9orf57, HGNC:HGNC:27037, NCBI Gene:138240, RefSeq DNA:NT_008470, RefSeq Protein:NP_001122090, RefSeq RNA:NM_001128618, UniProtKB:Q5W0N0 No chr9 74666275 74687728 72051381 72060605 +PA166352343 HGNC:26093 chromosome 9 open reading frame 63 C9orf63 FLJ20808 Yes No HGNC:HGNC:26093 No 0 0 0 0 +PA134908144 203228 HGNC:28337 ENSG00000147894 C9orf72-SMCR8 complex subunit C9orf72 chromosome 9 open reading frame 72 DENND9, DENNL72, MGC23980 Yes Yes Comparative Toxicogenomics Database:203228, Ensembl:ENSG00000147894, GeneCard:C9orf72, HGNC:HGNC:28337, HumanCyc Gene:HS14224, ModBase:Q96LT7, NCBI Gene:203228, RefSeq DNA:NT_008413, RefSeq Protein:NP_060795, RefSeq Protein:NP_659442, RefSeq RNA:NM_018325, RefSeq RNA:NM_145005, UniProtKB:Q96LT7, UniProtKB:Q9NUW0 No chr9 27546543 27573864 27546546 27573866 +PA134929438 51759 HGNC:24932 ENSG00000136819 chromosome 9 open reading frame 78 C9orf78 Hepatocellular carcinoma-associated antigen 59 CSU2, HCA59, HSPC220 Yes No Ensembl:ENSG00000136819, GeneCard:C9orf78, HGNC:HGNC:24932, HumanCyc Gene:HS13642, ModBase:Q9NZ63, NCBI Gene:51759, RefSeq DNA:NT_008470, RefSeq Protein:NP_057604, RefSeq RNA:NM_016520, UniProtKB:Q9NZ63 No chr9 132589564 132597572 129827285 129835293 +PA134985322 138241 HGNC:28784 ENSG00000155621 chromosome 9 open reading frame 85 C9orf85 MGC61599 Yes No Comparative Toxicogenomics Database:138241, Ensembl:ENSG00000155621, GeneCard:C9orf85, HGNC:HGNC:28784, NCBI Gene:138241, RefSeq DNA:NT_008470, RefSeq Protein:NP_872311, RefSeq RNA:NM_182505, UniProtKB:Q96MD7 No chr9 74526190 74588373 71911340 71982700 +PA134880670 100129385 HGNC:19054 ENSG00000205549 chromosome 9 open reading frame 92 C9orf92 Em:AL513424.1 Yes No Ensembl:ENSG00000205549, GeneCard:C9orf92, HGNC:HGNC:19054, NCBI Gene:100129385, RefSeq DNA:NT_008413, RefSeq Protein:XP_001722638, RefSeq Protein:XP_001722639, RefSeq Protein:XP_001723061, RefSeq Protein:XP_001723063, RefSeq Protein:XP_001725178, RefSeq Protein:XP_001725179, RefSeq RNA:XM_001722586, RefSeq RNA:XM_001722587, RefSeq RNA:XM_001723009, RefSeq RNA:XM_001723011, RefSeq RNA:XM_001725126, RefSeq RNA:XM_001725127 No chr9 16203933 16276311 16203935 16276313 +PA25984 759 HGNC:1368 ENSG00000133742 carbonic anhydrase 1 CA1 carbonic anhydrase I Car1 Yes No Comparative Toxicogenomics Database:759, Ensembl:ENSG00000133742, GenAtlas:CA1, GeneCard:CA1, HGNC:HGNC:1368, HumanCyc Gene:HS05785, ModBase:P00915, NCBI Gene:759, OMIM:114800, RefSeq DNA:NG_016221, RefSeq DNA:NT_008183, RefSeq Protein:NP_001122301, RefSeq Protein:NP_001122302, RefSeq Protein:NP_001122303, RefSeq Protein:NP_001158302, RefSeq Protein:NP_001729, RefSeq RNA:NM_001128829, RefSeq RNA:NM_001128830, RefSeq RNA:NM_001128831, RefSeq RNA:NM_001164830, RefSeq RNA:NM_001738, UCSC Genome Browser:NM_001738, UniProtKB:P00915 No chr8 86240458 86290342 85328229 85378154 +PA25985 56934 HGNC:1369 ENSG00000154975 carbonic anhydrase 10 CA10 carbonic anhydrase X CA-RPX, CARPX, HUCEP-15 Yes Yes Ensembl:ENSG00000154975, GenAtlas:CA10, GeneCard:CA10, HGNC:HGNC:1369, HumanCyc Gene:HS08020, ModBase:Q9NS85, NCBI Gene:56934, OMIM:604642, RefSeq DNA:NT_010783, RefSeq Protein:NP_001076002, RefSeq Protein:NP_001076003, RefSeq Protein:NP_064563, RefSeq RNA:NM_001082533, RefSeq RNA:NM_001082534, RefSeq RNA:NM_020178, UCSC Genome Browser:NM_020178, UniProtKB:Q9NS85 No chr17 49707674 50237377 51630313 52160017 +PA25986 770 HGNC:1370 ENSG00000063180 carbonic anhydrase 11 CA11 CA-RP XI, carbonic anhydrase XI, carbonic anhydrase-related protein 2, carbonic anhydrase-related protein XI CARP2, CARPX1 Yes No Ensembl:ENSG00000063180, GenAtlas:CA11, GeneCard:CA11, HGNC:HGNC:1370, HumanCyc Gene:HS00778, ModBase:O75493, NCBI Gene:770, OMIM:604644, RefSeq DNA:NT_011109, RefSeq Protein:NP_001208, RefSeq RNA:NM_001217, UCSC Genome Browser:NM_001217, UniProtKB:O75493 No chr19 49141272 49149451 48637942 48646312 +PA25987 771 HGNC:1371 ENSG00000074410 carbonic anhydrase 12 CA12 carbonic anhydrase XII HsT18816 Yes Yes Comparative Toxicogenomics Database:771, Ensembl:ENSG00000074410, GenAtlas:CA12, GeneCard:CA12, HGNC:HGNC:1371, HumanCyc Gene:HS01139, ModBase:O43570, NCBI Gene:771, OMIM:603263, RefSeq DNA:NT_010194, RefSeq Protein:NP_001209, RefSeq Protein:NP_996808, RefSeq RNA:NM_001218, RefSeq RNA:NM_206925, UCSC Genome Browser:NM_001218, UniProtKB:O43570 No chr15 63615730 63674326 63321378 63382166 +PA134891311 377677 HGNC:14914 ENSG00000185015 carbonic anhydrase 13 CA13 carbonic anhydrase XIII CAXIII, FLJ37995, MGC59868 Yes No Ensembl:ENSG00000185015, GeneCard:CA13, HGNC:HGNC:14914, ModBase:Q8N1Q1, NCBI Gene:377677, OMIM:611436, RefSeq DNA:NT_008183, RefSeq Protein:NP_940986, RefSeq RNA:NM_198584, UniProtKB:Q8N1Q1 No chr8 86157716 86196302 85245487 85284073 +PA25988 23632 HGNC:1372 ENSG00000118298 carbonic anhydrase 14 CA14 carbonic anhydrase XIV Yes No Comparative Toxicogenomics Database:23632, Ensembl:ENSG00000118298, GenAtlas:CA14, GeneCard:CA14, HGNC:HGNC:1372, HumanCyc Gene:HS04211, ModBase:Q9ULX7, NCBI Gene:23632, OMIM:604832, RefSeq DNA:NT_004487, RefSeq Protein:NP_036245, RefSeq RNA:NM_012113, UCSC Genome Browser:NM_012113, UniProtKB:A8K3J4, UniProtKB:Q9ULX7 No chr1 150229554 150237478 150257255 150265078 +PA25989 760 HGNC:1373 ENSG00000104267 carbonic anhydrase 2 CA2 carbonic anhydrase II CA-II, CAII, Car2 Yes No Comparative Toxicogenomics Database:760, Ensembl:ENSG00000104267, GenAtlas:CA2, GeneCard:CA2, HGNC:HGNC:1373, HumanCyc Gene:HS02558, ModBase:P00918, NCBI Gene:760, OMIM:259730, OMIM:611492, RefSeq DNA:NG_007287, RefSeq DNA:NT_008183, RefSeq Protein:NP_000058, RefSeq RNA:NM_000067, UCSC Genome Browser:NM_000067, UniProtKB:P00918 No chr8 86376131 86393721 85463902 85481492 +PA25990 761 HGNC:1374 ENSG00000164879 carbonic anhydrase 3 CA3 carbonic anhydrase III, muscle specific CAIII, Car3 Yes No Comparative Toxicogenomics Database:761, Ensembl:ENSG00000164879, GenAtlas:CA3, GeneCard:CA3, HGNC:HGNC:1374, HumanCyc Gene:HS09151, ModBase:P07451, NCBI Gene:761, OMIM:114750, RefSeq DNA:NT_008183, RefSeq Protein:NP_005172, RefSeq RNA:NM_005181, UCSC Genome Browser:NM_005181, UniProtKB:P07451 No chr8 86351056 86361269 85438827 85449040 +PA25991 762 HGNC:1375 ENSG00000167434 carbonic anhydrase 4 CA4 carbonic anhydrase IV CAIV, Car4, RP17 Yes No Comparative Toxicogenomics Database:762, Ensembl:ENSG00000167434, GenAtlas:CA4, GeneCard:CA4, HGNC:HGNC:1375, HumanCyc Gene:HS09559, ModBase:P22748, NCBI Gene:762, OMIM:114760, OMIM:600852, RefSeq DNA:NG_012050, RefSeq DNA:NT_010783, RefSeq Protein:NP_000708, RefSeq RNA:NM_000717, UCSC Genome Browser:NM_000717, UniProtKB:P22748, UniProtKB:Q6FHI7 No chr17 58227302 58236907 60149941 60178118 +PA25992 763 HGNC:1377 ENSG00000174990 carbonic anhydrase 5A CA5A carbonic anhydrase VA, mitochondrial CA5, CAV, CAVA Yes No Ensembl:ENSG00000174990, GenAtlas:CA5A, GeneCard:CA5A, HGNC:HGNC:1377, HumanCyc Gene:HS10863, ModBase:P35218, NCBI Gene:763, OMIM:114761, RefSeq DNA:NT_010498, RefSeq Protein:NP_001730, RefSeq RNA:NM_001739, UCSC Genome Browser:NM_001739, UniProtKB:P35218 No chr16 87921625 87970173 87888019 87936575 +PA25994 764 HGNC:1379 ENSG00000260133 carbonic anhydrase VA pseudogene 1 CA5AP1 Yes No Ensembl:ENSG00000260133, GenAtlas:CA5P, GeneCard:CA5P, HGNC:HGNC:1379, NCBI Gene:764, RefSeq DNA:NT_010393 No chr16 29630106 29648664 29618675 29636331 +PA25993 11238 HGNC:1378 ENSG00000169239 carbonic anhydrase 5B CA5B carbonic anhydrase VB, mitochondrial Yes No Ensembl:ENSG00000169239, GenAtlas:CA5B, GeneCard:CA5B, HGNC:HGNC:1378, HumanCyc Gene:HS09910, ModBase:Q9Y2D0, NCBI Gene:11238, OMIM:300230, RefSeq DNA:NG_012766, RefSeq DNA:NT_167197, RefSeq Protein:NP_009151, RefSeq RNA:NM_007220, UCSC Genome Browser:NM_007220, UniProtKB:Q9Y2D0 No chrX 15756412 15805748 15738281 15787625 +PA134953520 340591 HGNC:29544 ENSG00000186312 carbonic anhydrase VB pseudogene 1 CA5BP1 """carbonic dehydratase"", ""similar to carbonic anhydrase VB, mitochondrial precursor""" PRO2325 Yes No Ensembl:ENSG00000186312, HGNC:HGNC:29544, NCBI Gene:340591, RefSeq DNA:NT_011757, RefSeq Protein:XP_291346, RefSeq Protein:XP_938748, RefSeq Protein:XP_938750, RefSeq Protein:XP_938752, RefSeq Protein:XP_938756, RefSeq Protein:XP_938759, RefSeq Protein:XP_943961, RefSeq Protein:XP_949005, RefSeq Protein:XP_949009, RefSeq Protein:XP_949011, RefSeq Protein:XP_949017, RefSeq Protein:XP_949021, RefSeq RNA:NR_026551, RefSeq RNA:XM_291346, RefSeq RNA:XM_933655, RefSeq RNA:XM_933657, RefSeq RNA:XM_933659, RefSeq RNA:XM_933663, RefSeq RNA:XM_933666, RefSeq RNA:XM_938868, RefSeq RNA:XM_943912, RefSeq RNA:XM_943916, RefSeq RNA:XM_943918, RefSeq RNA:XM_943924, RefSeq RNA:XM_943928 No chrX 15693039 15721474 15674916 15703351 +PA25995 765 HGNC:1380 ENSG00000131686 carbonic anhydrase 6 CA6 carbonic anhydrase VI Yes No Comparative Toxicogenomics Database:765, Ensembl:ENSG00000131686, GenAtlas:CA6, GeneCard:CA6, HGNC:HGNC:1380, HumanCyc Gene:HS05551, ModBase:P23280, NCBI Gene:765, OMIM:114780, RefSeq DNA:NT_021937, RefSeq Protein:NP_001206, RefSeq RNA:NM_001215, UCSC Genome Browser:NM_001215, UniProtKB:P23280, UniProtKB:Q5FC00, UniProtKB:Q8N4G4 No chr1 9005893 9035151 8945786 8975092 +PA25996 766 HGNC:1381 ENSG00000168748 carbonic anhydrase 7 CA7 carbonic anhydrase VII Yes No Ensembl:ENSG00000168748, GenAtlas:CA7, GeneCard:CA7, HGNC:HGNC:1381, HumanCyc Gene:HS09814, ModBase:P43166, NCBI Gene:766, OMIM:114770, RefSeq DNA:NT_010498, RefSeq Protein:NP_001014435, RefSeq Protein:NP_005173, RefSeq RNA:NM_001014435, RefSeq RNA:NM_005182, UCSC Genome Browser:NM_005182, UniProtKB:P43166, UniProtKB:Q86YU0 No chr16 66878282 66888052 66844379 66854149 +PA25997 767 HGNC:1382 ENSG00000178538 carbonic anhydrase 8 CA8 carbonic anhydrase VIII CALS, CARP Yes No Ensembl:ENSG00000178538, GenAtlas:CA8, GeneCard:CA8, HGNC:HGNC:1382, HumanCyc Gene:HS11294, ModBase:P35219, NCBI Gene:767, OMIM:114815, OMIM:613227, RefSeq DNA:NG_023193, RefSeq DNA:NT_008183, RefSeq Protein:NP_004047, RefSeq RNA:NM_004056, UCSC Genome Browser:NM_004056, UniProtKB:P35219 No chr8 61101423 61193954 60185420 60281423 +PA25998 768 HGNC:1383 ENSG00000107159 carbonic anhydrase 9 CA9 RCC-associated protein G250, carbonic anhydrase IX, carbonic dehydratase CAIX, MN Yes No Comparative Toxicogenomics Database:768, Ensembl:ENSG00000107159, GenAtlas:CA9, GeneCard:CA9, HGNC:HGNC:1383, HumanCyc Gene:HS02974, ModBase:Q16790, NCBI Gene:768, OMIM:603179, RefSeq DNA:NT_008413, RefSeq Protein:NP_001207, RefSeq RNA:NM_001216, UCSC Genome Browser:NM_001216, UniProtKB:Q16790 No chr9 35673915 35681156 35673859 35681159 +PA134943744 79886 HGNC:25834 ENSG00000120159 caspase activity and apoptosis inhibitor 1 CAAP1 conserved anti-apoptotic protein C9orf82, CAAP, FLJ13657 Yes No Ensembl:ENSG00000120159, GeneCard:C9orf82, HGNC:HGNC:25834, HumanCyc Gene:HS12977, NCBI Gene:79886, RefSeq DNA:NT_008413, RefSeq Protein:NP_001161047, RefSeq Protein:NP_079104, RefSeq RNA:NM_001167575, RefSeq RNA:NM_024828, UniProtKB:B4DWT4, UniProtKB:Q9H8G2 No chr9 26840683 26892826 26840685 26892828 +PA128394663 51719 HGNC:20292 ENSG00000135932 calcium binding protein 39 CAB39 CGI-66, MO25 Yes No Comparative Toxicogenomics Database:51719, Ensembl:ENSG00000135932, GeneCard:CAB39, HGNC:HGNC:20292, HumanCyc Gene:HS13600, ModBase:Q9Y376, NCBI Gene:51719, OMIM:612174, RefSeq DNA:NT_005403, RefSeq Protein:NP_001124321, RefSeq Protein:NP_001124322, RefSeq Protein:NP_057373, RefSeq RNA:NM_001130849, RefSeq RNA:NM_001130850, RefSeq RNA:NM_016289, UCSC Genome Browser:NM_016289, UniProtKB:A8K8L7, UniProtKB:Q9Y376 No chr2 231577557 231685790 230712842 230821075 +PA134913801 81617 HGNC:20290 ENSG00000102547 calcium binding protein 39 like CAB39L calcium binding protein 39-like FLJ12577, MLAA-34, MO2L, bA103J18.3 Yes No Comparative Toxicogenomics Database:81617, Ensembl:ENSG00000102547, GeneCard:CAB39L, HGNC:HGNC:20290, HumanCyc Gene:HS12489, ModBase:Q9H9S4, NCBI Gene:81617, OMIM:612175, RefSeq DNA:NT_024524, RefSeq Protein:NP_001073138, RefSeq Protein:NP_112187, RefSeq RNA:NM_001079670, RefSeq RNA:NM_030925, UniProtKB:A6NI97, UniProtKB:Q9H9S4 No chr13 49882786 50018221 49308628 49444346 +PA134897916 219621 HGNC:28678 ENSG00000183346 ciliary associated calcium binding coiled-coil 1 CABCOCO1 ARID5B-inducing enhancer associated long noncoding RNA, calcium-binding coiled-coil protein-1, chromosome 10 open reading frame 107 ARIEL, C10orf107, Em:AC022398.2, MGC44593, bA63A2.1 Yes Yes Ensembl:ENSG00000183346, GeneCard:C10orf107, HGNC:HGNC:28678, NCBI Gene:219621, RefSeq DNA:NT_030059, RefSeq Protein:NP_775825, RefSeq RNA:NM_173554, UniProtKB:Q8IVU9 No chr10 63422709 63526524 61662927 61766766 +PA164717549 23523 HGNC:24187 ENSG00000099991 calcineurin binding protein 1 CABIN1 KIAA0330, PPP3IN Yes No Ensembl:ENSG00000099991, GeneCard:CABIN1, HGNC:HGNC:24187, HumanCyc Gene:HS01945, ModBase:Q9Y6J0, NCBI Gene:23523, OMIM:604251, RefSeq DNA:NT_011520, RefSeq Protein:NP_001186210, RefSeq Protein:NP_001188358, RefSeq Protein:NP_036427, RefSeq RNA:NM_001199281, RefSeq RNA:NM_001201429, RefSeq RNA:NM_012295, UniProtKB:Q9Y6J0 No chr22 24407642 24574596 24011192 24178628 +PA134880184 91768 HGNC:25097 ENSG00000134508 Cdk5 and Abl enzyme substrate 1 CABLES1 FLJ35924, HsT2563 Yes No Comparative Toxicogenomics Database:91768, Ensembl:ENSG00000134508, GeneCard:CABLES1, HGNC:HGNC:25097, HumanCyc Gene:HS05878, ModBase:Q8TDN4, NCBI Gene:91768, OMIM:609194, RefSeq DNA:NT_010966, RefSeq Protein:NP_001094089, RefSeq Protein:NP_612384, RefSeq RNA:NM_001100619, RefSeq RNA:NM_138375, RefSeq RNA:NR_023359, UniProtKB:A7K6Y5, UniProtKB:Q8TDN4 No chr18 20714528 20840434 23134564 23260470 +PA25692 81928 HGNC:16143 ENSG00000149679 Cdk5 and Abl enzyme substrate 2 CABLES2 C20orf150, dJ908M14.2, ik3-2 Yes No Ensembl:ENSG00000149679, GenAtlas:CABLES2, GeneCard:CABLES2, HGNC:HGNC:16143, HumanCyc Gene:HS07636, ModBase:Q9BTV7, NCBI Gene:81928, RefSeq DNA:NT_011362, RefSeq Protein:NP_112492, RefSeq RNA:NM_031215, UniProtKB:Q9BTV7 No chr20 60963686 60982339 62388630 62407283 +PA26000 9478 HGNC:1384 ENSG00000157782 calcium binding protein 1 CABP1 calbrain, caldendrin Yes No Comparative Toxicogenomics Database:9478, Ensembl:ENSG00000157782, GenAtlas:CABP1, GeneCard:CABP1, HGNC:HGNC:1384, HumanCyc Gene:HS08241, ModBase:Q9NZU7, NCBI Gene:9478, OMIM:605563, RefSeq DNA:NT_009775, RefSeq Protein:NP_001028849, RefSeq Protein:NP_004267, RefSeq Protein:NP_112482, RefSeq RNA:NM_001033677, RefSeq RNA:NM_004276, RefSeq RNA:NM_031205, UCSC Genome Browser:NM_004276, UniProtKB:Q9NZU7 No chr12 121078422 121105129 120640552 120680869 +PA26001 51475 HGNC:1385 ENSG00000167791 calcium binding protein 2 CABP2 DFNB93 Yes No Comparative Toxicogenomics Database:51475, Ensembl:ENSG00000167791, GenAtlas:CABP2, GeneCard:CABP2, HGNC:HGNC:1385, HumanCyc Gene:HS09640, ModBase:Q9NPB3, NCBI Gene:51475, OMIM:607314, RefSeq DNA:NT_167190, RefSeq Protein:NP_057450, RefSeq Protein:NP_112481, RefSeq RNA:NM_016366, RefSeq RNA:NM_031204, UCSC Genome Browser:NM_016366, UniProtKB:Q9NPB3 No chr11 67286418 67291085 67518947 67523428 +PA26003 57010 HGNC:1386 ENSG00000175544 calcium binding protein 4 CABP4 CSNB2B Yes No Comparative Toxicogenomics Database:57010, Ensembl:ENSG00000175544, GenAtlas:CABP4, GeneCard:CABP4, HGNC:HGNC:1386, HumanCyc Gene:HS10949, ModBase:P57796, NCBI Gene:57010, OMIM:608965, OMIM:610427, RefSeq DNA:NG_021211, RefSeq DNA:NT_167190, RefSeq Protein:NP_660201, RefSeq RNA:NM_145200, UCSC Genome Browser:NM_145200, UniProtKB:P57796 No chr11 67219886 67229245 67452406 67461774 +PA26004 56344 HGNC:13714 ENSG00000105507 calcium binding protein 5 CABP5 CABP3, CaBP3 Yes No Ensembl:ENSG00000105507, GenAtlas:CABP5, GeneCard:CABP5, HGNC:HGNC:13714, HumanCyc Gene:HS02752, ModBase:Q9NP86, NCBI Gene:56344, OMIM:607315, OMIM:607316, RefSeq DNA:NT_011109, RefSeq Protein:NP_062829, RefSeq RNA:NM_019855, UCSC Genome Browser:NM_019855, UniProtKB:Q9NP86 No chr19 48532640 48547311 48029383 48048342 +PA134928335 164633 HGNC:20834 ENSG00000100314 calcium binding protein 7 CABP7 MGC57793 Yes No Comparative Toxicogenomics Database:164633, Ensembl:ENSG00000100314, GeneCard:CABP7, HGNC:HGNC:20834, ModBase:Q86V35, NCBI Gene:164633, RefSeq DNA:NT_011520, RefSeq Protein:NP_872333, RefSeq RNA:NM_182527, UniProtKB:Q86V35 No chr22 30116344 30127822 29720090 29731833 +PA162379775 85438 HGNC:30710 ENSG00000145309 calcium binding protein, spermatid associated 1 CABS1 """calcium-binding protein, spermatid-specific 1"", ""casein-like phosphoprotein""" C4orf35, CLPH, FLJ32897, NYD-SP26 Yes No Ensembl:ENSG00000145309, GeneCard:C4orf35, HGNC:HGNC:30710, HumanCyc Gene:HS14082, NCBI Gene:85438, RefSeq DNA:NT_022778, RefSeq Protein:NP_149113, RefSeq RNA:NM_033122, UniProtKB:Q96KC9 No chr4 71200671 71202833 70334954 70337116 +PA26005 26256 HGNC:15569 ENSG00000154040 calcium binding tyrosine phosphorylation regulated CABYR calcium binding tyrosine-(Y)-phosphorylation regulated, cancer/testis antigen 88, fibrousheathin 2 CBP86, CT88, FSP-2 Yes No Ensembl:ENSG00000154040, GenAtlas:CABYR, GeneCard:CABYR, HGNC:HGNC:15569, HumanCyc Gene:HS07944, ModBase:O75952, NCBI Gene:26256, OMIM:612135, RefSeq DNA:NT_010966, RefSeq Protein:NP_036321, RefSeq Protein:NP_619584, RefSeq Protein:NP_619585, RefSeq Protein:NP_722452, RefSeq Protein:NP_722453, RefSeq Protein:NP_722454, RefSeq RNA:NM_012189, RefSeq RNA:NM_138643, RefSeq RNA:NM_138644, RefSeq RNA:NM_153768, RefSeq RNA:NM_153769, RefSeq RNA:NM_153770, UCSC Genome Browser:NM_012189, UniProtKB:O75952 No chr18 21718920 21741564 24138956 24161600 +PA134933409 266954 HGNC:31902 ENSG00000242983 calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene 1 CABYRP1 Yes No Ensembl:ENSG00000242983, HGNC:HGNC:31902, NCBI Gene:266954, RefSeq DNA:NG_002394, RefSeq DNA:NT_022517 No chr3 54081687 54082846 54047660 54048819 +PA25982 11094 HGNC:1365 ENSG00000160325 calcium channel flower domain containing 1 CACFD1 C9orf7, D9S2135, flower Yes No Ensembl:ENSG00000160325, GenAtlas:C9orf7, GeneCard:C9orf7, HGNC:HGNC:1365, HumanCyc Gene:HS14805, NCBI Gene:11094, OMIM:613104, RefSeq DNA:NT_035014, RefSeq Protein:NP_001129247, RefSeq Protein:NP_001229298, RefSeq Protein:NP_001229299, RefSeq Protein:NP_060056, RefSeq RNA:NM_001135775, RefSeq RNA:NM_001242369, RefSeq RNA:NM_001242370, RefSeq RNA:NM_017586, UCSC Genome Browser:NM_017586, UniProtKB:Q9UGQ2 No chr9 136325087 136335909 133459965 133470787 +PA142672211 57685 HGNC:29314 ENSG00000158966 cache domain containing 1 CACHD1 KIAA1573, VWCD1 Yes No Comparative Toxicogenomics Database:57685, Ensembl:ENSG00000158966, GeneCard:CACHD1, HGNC:HGNC:29314, ModBase:Q5VU97, NCBI Gene:57685, RefSeq DNA:NT_032977, RefSeq Protein:NP_065976, RefSeq RNA:NM_020925, UniProtKB:Q5VU97 No chr1 64936476 65158741 64470793 64693058 +PA26007 773 HGNC:1388 ENSG00000141837 calcium voltage-gated channel subunit alpha1 A CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit APCA, CACNL1A4, Cav2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6 Yes Yes Comparative Toxicogenomics Database:773, Ensembl:ENSG00000141837, GenAtlas:CACNA1A, GeneCard:CACNA1A, HGNC:HGNC:1388, HumanCyc Gene:HS06873, IUPHAR Receptor:532, ModBase:Q99793, NCBI Gene:773, OMIM:108500, OMIM:141500, OMIM:183086, OMIM:601011, RefSeq DNA:NG_011569, RefSeq DNA:NT_011295, RefSeq Protein:NP_000059, RefSeq Protein:NP_001120693, RefSeq Protein:NP_001120694, RefSeq Protein:NP_001167551, RefSeq Protein:NP_075461, RefSeq RNA:NM_000068, RefSeq RNA:NM_001127221, RefSeq RNA:NM_001127222, RefSeq RNA:NM_001174080, RefSeq RNA:NM_023035, UCSC Genome Browser:NM_000068, UniProtKB:B5TYJ1, UniProtKB:O00555, UniProtKB:Q9NS88 No chr19 13317256 13617274 13206442 13506460 +PA26008 774 HGNC:1389 ENSG00000148408 calcium voltage-gated channel subunit alpha1 B CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit CACNL1A5, CACNN, Cav2.2 Yes Yes Comparative Toxicogenomics Database:774, Ensembl:ENSG00000148408, GenAtlas:CACNA1B, GeneCard:CACNA1B, HGNC:HGNC:1389, HumanCyc Gene:HS07526, IUPHAR Receptor:533, ModBase:Q00975, NCBI Gene:774, OMIM:601012, RefSeq DNA:NT_024000, RefSeq Protein:NP_000709, RefSeq RNA:NM_000718, UCSC Genome Browser:NM_000718, UniProtKB:Q00975, UniProtKB:Q59FJ3 No chr9 140772241 141019076 137877789 138124624 +PA83 775 HGNC:1390 ENSG00000151067 calcium voltage-gated channel subunit alpha1 C CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, Cav1.2, LQT8, TS Yes Yes Comparative Toxicogenomics Database:775, Ensembl:ENSG00000151067, GenAtlas:CACNA1C, GeneCard:CACNA1C, HGNC:HGNC:1390, HumanCyc Gene:HS07704, IUPHAR Receptor:529, NCBI Gene:775, OMIM:114205, OMIM:601005, OMIM:611875, RefSeq DNA:NG_008801, RefSeq DNA:NT_009759, RefSeq Protein:NP_000710, RefSeq Protein:NP_001123299, RefSeq Protein:NP_001123301, RefSeq Protein:NP_001123302, RefSeq Protein:NP_001123303, RefSeq Protein:NP_001123304, RefSeq Protein:NP_001123305, RefSeq Protein:NP_001123306, RefSeq Protein:NP_001123307, RefSeq Protein:NP_001123308, RefSeq Protein:NP_001123309, RefSeq Protein:NP_001123310, RefSeq Protein:NP_001123311, RefSeq Protein:NP_001123312, RefSeq Protein:NP_001123313, RefSeq Protein:NP_001123314, RefSeq Protein:NP_001123315, RefSeq Protein:NP_001123316, RefSeq Protein:NP_001123318, RefSeq Protein:NP_001161095, RefSeq Protein:NP_001161096, RefSeq Protein:NP_001161097, RefSeq Protein:NP_955630, RefSeq RNA:NM_000719, RefSeq RNA:NM_001129827, RefSeq RNA:NM_001129829, RefSeq RNA:NM_001129830, RefSeq RNA:NM_001129831, RefSeq RNA:NM_001129832, RefSeq RNA:NM_001129833, RefSeq RNA:NM_001129834, RefSeq RNA:NM_001129835, RefSeq RNA:NM_001129836, RefSeq RNA:NM_001129837, RefSeq RNA:NM_001129838, RefSeq RNA:NM_001129839, RefSeq RNA:NM_001129840, RefSeq RNA:NM_001129841, RefSeq RNA:NM_001129842, RefSeq RNA:NM_001129843, RefSeq RNA:NM_001129844, RefSeq RNA:NM_001129846, RefSeq RNA:NM_001167623, RefSeq RNA:NM_001167624, RefSeq RNA:NM_001167625, RefSeq RNA:NM_199460, UCSC Genome Browser:NM_000719, UniProtKB:Q13936 No chr12 2079952 2807115 1969677 2697949 +PA84 776 HGNC:1391 ENSG00000157388 calcium voltage-gated channel subunit alpha1 D CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3 Yes Yes Comparative Toxicogenomics Database:776, Ensembl:ENSG00000157388, GenAtlas:CACNA1D, GeneCard:CACNA1D, HGNC:HGNC:1391, HumanCyc Gene:HS08209, IUPHAR Receptor:530, ModBase:Q01668, NCBI Gene:776, OMIM:114206, RefSeq DNA:NT_022517, RefSeq Protein:NP_000711, RefSeq Protein:NP_001122311, RefSeq Protein:NP_001122312, RefSeq RNA:NM_000720, RefSeq RNA:NM_001128839, RefSeq RNA:NM_001128840, UCSC Genome Browser:NM_000720, UniProtKB:B0FYA3, UniProtKB:Q01668, UniProtKB:Q59GD8 No chr3 53529076 53847179 53495049 53813151 +PA26009 777 HGNC:1392 ENSG00000198216 calcium voltage-gated channel subunit alpha1 E CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit BII, CACH6, CACNL1A6, Cav2.3 Yes Yes Ensembl:ENSG00000198216, GenAtlas:CACNA1E, GeneCard:CACNA1E, HGNC:HGNC:1392, IUPHAR Receptor:534, ModBase:Q15878, NCBI Gene:777, OMIM:601013, RefSeq DNA:NT_004487, RefSeq Protein:NP_000712, RefSeq Protein:NP_001192222, RefSeq Protein:NP_001192223, RefSeq RNA:NM_000721, RefSeq RNA:NM_001205293, RefSeq RNA:NM_001205294, UCSC Genome Browser:NM_000721, UniProtKB:Q15878 No chr1 181452447 181775920 181317712 181808084 +PA26010 778 HGNC:1393 ENSG00000102001 calcium voltage-gated channel subunit alpha1 F CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit AIED, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, JM8, JMC8, OA2 Yes No Comparative Toxicogenomics Database:778, Ensembl:ENSG00000102001, GenAtlas:CACNA1F, GeneCard:CACNA1F, HGNC:HGNC:1393, HumanCyc Gene:HS02331, IUPHAR Receptor:531, ModBase:O60840, NCBI Gene:778, OMIM:300071, OMIM:300110, OMIM:300476, OMIM:300600, RefSeq DNA:NG_009095, RefSeq DNA:NT_079573, RefSeq Protein:NP_005174, RefSeq RNA:NM_005183, UCSC Genome Browser:NM_005183, UniProtKB:O60840 No chrX 49061523 49089833 49205063 49233404 +PA381 8913 HGNC:1394 ENSG00000006283 calcium voltage-gated channel subunit alpha1 G CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit Cav3.1, NBR13 Yes No Comparative Toxicogenomics Database:8913, Ensembl:ENSG00000006283, GenAtlas:CACNA1G, GeneCard:CACNA1G, HGNC:HGNC:1394, HumanCyc Gene:HS00174, IUPHAR Receptor:535, ModBase:Q9Y5T3, NCBI Gene:8913, OMIM:604065, RefSeq DNA:NT_010783, RefSeq Protein:NP_061496, RefSeq Protein:NP_938190, RefSeq Protein:NP_938191, RefSeq Protein:NP_938192, RefSeq Protein:NP_938193, RefSeq Protein:NP_938194, RefSeq Protein:NP_938196, RefSeq Protein:NP_938197, RefSeq Protein:NP_938198, RefSeq Protein:NP_938199, RefSeq Protein:NP_938200, RefSeq Protein:NP_938201, RefSeq Protein:NP_938202, RefSeq Protein:NP_938406, RefSeq Protein:NP_938407, RefSeq RNA:NM_018896, RefSeq RNA:NM_198376, RefSeq RNA:NM_198377, RefSeq RNA:NM_198378, RefSeq RNA:NM_198379, RefSeq RNA:NM_198380, RefSeq RNA:NM_198382, RefSeq RNA:NM_198383, RefSeq RNA:NM_198384, RefSeq RNA:NM_198385, RefSeq RNA:NM_198386, RefSeq RNA:NM_198387, RefSeq RNA:NM_198388, RefSeq RNA:NM_198396, RefSeq RNA:NM_198397, UCSC Genome Browser:NM_018896, UniProtKB:O43497, UniProtKB:Q19QZ8, UniProtKB:Q19QZ9, UniProtKB:Q19R02, UniProtKB:Q19R03, UniProtKB:Q19R08, UniProtKB:Q19R11, UniProtKB:Q19R12, UniProtKB:Q19R13, UniProtKB:Q19R17, UniProtKB:Q2TAC4 No chr17 48638429 48704835 50560929 50629625 +PA380 8912 HGNC:1395 ENSG00000196557 calcium voltage-gated channel subunit alpha1 H CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit Cav3.2 Yes Yes Comparative Toxicogenomics Database:8912, Ensembl:ENSG00000196557, GenAtlas:CACNA1H, GeneCard:CACNA1H, HGNC:HGNC:1395, IUPHAR Receptor:536, ModBase:O95180, NCBI Gene:8912, OMIM:607904, OMIM:611942, RefSeq DNA:NG_012647, RefSeq DNA:NT_010393, RefSeq Protein:NP_001005407, RefSeq Protein:NP_066921, RefSeq RNA:NM_001005407, RefSeq RNA:NM_021098, UCSC Genome Browser:NM_021098, UniProtKB:B3KQH9, UniProtKB:O95180 No chr16 1203241 1271772 1153241 1221772 +PA26011 8911 HGNC:1396 ENSG00000100346 calcium voltage-gated channel subunit alpha1 I CACNA1I """Voltage-dependent T-type calcium channel subunit alpha-1I"", ""Voltage-gated calcium channel subunit alpha Cav3.3"", ""calcium channel, voltage-dependent, T type, alpha 1I subunit""" Cav3.3 Yes Yes Comparative Toxicogenomics Database:8911, Ensembl:ENSG00000100346, GenAtlas:CACNA1I, GeneCard:CACNA1I, HGNC:HGNC:1396, HumanCyc Gene:HS02052, IUPHAR Receptor:537, ModBase:Q9ULU9, NCBI Gene:8911, OMIM:608230, RefSeq DNA:NT_011520, RefSeq Protein:NP_001003406, RefSeq Protein:NP_066919, RefSeq RNA:NM_001003406, RefSeq RNA:NM_021096, UCSC Genome Browser:NM_021096, UniProtKB:Q9P0X4 No chr22 39966758 40085740 39570753 39689737 +PA85 779 HGNC:1397 ENSG00000081248 calcium voltage-gated channel subunit alpha1 S CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit CACNL1A3, Cav1.1, Dihydropyridine Receptor Alpha 1 Subunit, HOKPP, MHS5, hypoPP Yes Yes Comparative Toxicogenomics Database:779, Ensembl:ENSG00000081248, GenAtlas:CACNA1S, GeneCard:CACNA1S, HGNC:HGNC:1397, HumanCyc Gene:HS01391, IUPHAR Receptor:528, ModBase:Q13698, NCBI Gene:779, OMIM:114208, OMIM:170400, OMIM:188580, OMIM:601887, RefSeq DNA:NG_009816, RefSeq DNA:NT_004487, RefSeq Protein:NP_000060, RefSeq RNA:NM_000069, UCSC Genome Browser:NM_000069, UniProtKB:Q13698 Yes chr1 201008635 201081694 201039509 201112566 +PA86 781 HGNC:1399 ENSG00000153956 calcium voltage-gated channel auxiliary subunit alpha2delta 1 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 CACNA2, CACNL2A, LINC01112, MHS3, alpha2delta-1, lncRNA-N3 Yes No Comparative Toxicogenomics Database:781, Ensembl:ENSG00000153956, GenAtlas:CACNA2D1, GeneCard:CACNA2D1, HGNC:HGNC:1399, HumanCyc Gene:HS07936, ModBase:P54289, NCBI Gene:781, OMIM:114204, RefSeq DNA:NG_009358, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000713, RefSeq RNA:NM_000722, UCSC Genome Browser:NM_000722, UniProtKB:P54289 No chr7 81575760 82073031 81946444 82443921 +PA26012 9254 HGNC:1400 ENSG00000007402 calcium voltage-gated channel auxiliary subunit alpha2delta 2 CACNA2D2 """calcium channel, voltage-dependent, alpha 2/delta subunit 2"", ""gene 26""" KIAA0558, alpha2delta-2 Yes Yes Comparative Toxicogenomics Database:9254, Ensembl:ENSG00000007402, GenAtlas:CACNA2D2, GeneCard:CACNA2D2, HGNC:HGNC:1400, HumanCyc Gene:HS00216, ModBase:Q9NY47, NCBI Gene:9254, OMIM:607082, RefSeq DNA:NT_022517, RefSeq Protein:NP_001005505, RefSeq Protein:NP_001167522, RefSeq Protein:NP_006021, RefSeq RNA:NM_001005505, RefSeq RNA:NM_001174051, RefSeq RNA:NM_006030, UCSC Genome Browser:NM_006030, UniProtKB:Q9NY47 No chr3 50400230 50540892 50362613 50504244 +PA26013 55799 HGNC:15460 ENSG00000157445 calcium voltage-gated channel auxiliary subunit alpha2delta 3 CACNA2D3 """Voltage-dependent calcium channel subunit alpha-2/delta-3"", ""calcium channel, voltage-dependent, alpha 2/delta subunit 3""" HSA272268, alpha2delta-3 Yes Yes Ensembl:ENSG00000157445, GenAtlas:CACNA2D3, GeneCard:CACNA2D3, HGNC:HGNC:15460, HumanCyc Gene:HS08213, ModBase:Q8IZS8, NCBI Gene:55799, OMIM:606399, RefSeq DNA:NT_022517, RefSeq Protein:NP_060868, RefSeq RNA:NM_018398, UCSC Genome Browser:NM_018398, UniProtKB:Q8IZS8 No chr3 54156620 55108584 54122594 55074557 +PA130546913 93589 HGNC:20202 ENSG00000151062 calcium voltage-gated channel auxiliary subunit alpha2delta 4 CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 alpha2delta-4 Yes No Comparative Toxicogenomics Database:93589, Ensembl:ENSG00000151062, GeneCard:CACNA2D4, HGNC:HGNC:20202, HumanCyc Gene:HS14350, ModBase:Q7Z3S7, NCBI Gene:93589, OMIM:608171, OMIM:610478, RefSeq DNA:NG_012663, RefSeq DNA:NT_009759, RefSeq Protein:NP_758952, RefSeq RNA:NM_172364, UCSC Genome Browser:NM_172364, UniProtKB:Q7Z3S7 No chr12 1901123 2027870 1791957 1922606 +PA87 782 HGNC:1401 ENSG00000067191 calcium voltage-gated channel auxiliary subunit beta 1 CACNB1 calcium channel, voltage-dependent, beta 1 subunit CACNLB1 Yes No Comparative Toxicogenomics Database:782, Ensembl:ENSG00000067191, GenAtlas:CACNB1, GeneCard:CACNB1, HGNC:HGNC:1401, HumanCyc Gene:HS00903, ModBase:Q02641, NCBI Gene:782, OMIM:114207, RefSeq DNA:NT_010783, RefSeq Protein:NP_000714, RefSeq Protein:NP_954855, RefSeq Protein:NP_954856, RefSeq RNA:NM_000723, RefSeq RNA:NM_199247, RefSeq RNA:NM_199248, UCSC Genome Browser:NM_000723, UniProtKB:B3KXG1, UniProtKB:Q02641 No chr17 37329709 37353956 39173456 39197703 +PA88 783 HGNC:1402 ENSG00000165995 calcium voltage-gated channel auxiliary subunit beta 2 CACNB2 calcium channel, voltage-dependent, beta 2 subunit CACNLB2, MYSB Yes Yes Comparative Toxicogenomics Database:783, Ensembl:ENSG00000165995, GenAtlas:CACNB2, GeneCard:CACNB2, HGNC:HGNC:1402, HumanCyc Gene:HS09315, ModBase:Q9Y340, NCBI Gene:783, OMIM:600003, OMIM:611876, RefSeq DNA:NG_016195, RefSeq DNA:NT_008705, RefSeq Protein:NP_000715, RefSeq Protein:NP_001161417, RefSeq Protein:NP_963864, RefSeq Protein:NP_963865, RefSeq Protein:NP_963866, RefSeq Protein:NP_963884, RefSeq Protein:NP_963887, RefSeq Protein:NP_963890, RefSeq Protein:NP_963891, RefSeq RNA:NM_000724, RefSeq RNA:NM_001167945, RefSeq RNA:NM_201570, RefSeq RNA:NM_201571, RefSeq RNA:NM_201572, RefSeq RNA:NM_201590, RefSeq RNA:NM_201593, RefSeq RNA:NM_201596, RefSeq RNA:NM_201597, UCSC Genome Browser:NM_000724, UniProtKB:A6PVM7, UniProtKB:P32881, UniProtKB:Q08289, UniProtKB:Q59H42, UniProtKB:Q5QJ99, UniProtKB:Q5VVH1, UniProtKB:Q6TME2, UniProtKB:Q6TME3 No chr10 18429373 18830688 18140560 18545881 +PA89 784 HGNC:1403 ENSG00000167535 calcium voltage-gated channel auxiliary subunit beta 3 CACNB3 calcium channel, voltage-dependent, beta 3 subunit CACNLB3 Yes No Comparative Toxicogenomics Database:784, Ensembl:ENSG00000167535, GenAtlas:CACNB3, GeneCard:CACNB3, HGNC:HGNC:1403, HumanCyc Gene:HS09572, ModBase:P54284, NCBI Gene:784, OMIM:601958, RefSeq DNA:NT_029419, RefSeq Protein:NP_000716, RefSeq Protein:NP_001193844, RefSeq Protein:NP_001193845, RefSeq Protein:NP_001193846, RefSeq RNA:NM_000725, RefSeq RNA:NM_001206915, RefSeq RNA:NM_001206916, RefSeq RNA:NM_001206917, UCSC Genome Browser:NM_000725, UniProtKB:P54284 No chr12 49208215 49222726 48814432 48828943 +PA26014 785 HGNC:1404 ENSG00000182389 calcium voltage-gated channel auxiliary subunit beta 4 CACNB4 calcium channel, voltage-dependent, beta 4 subunit EJM4 Yes Yes Comparative Toxicogenomics Database:785, Ensembl:ENSG00000182389, GenAtlas:CACNB4, GeneCard:CACNB4, HGNC:HGNC:1404, ModBase:O00305, NCBI Gene:785, OMIM:254770, OMIM:600669, OMIM:601949, OMIM:607682, RefSeq DNA:NG_012641, RefSeq DNA:NT_005403, RefSeq Protein:NP_000717, RefSeq Protein:NP_001005746, RefSeq Protein:NP_001005747, RefSeq Protein:NP_001139270, RefSeq RNA:NM_000726, RefSeq RNA:NM_001005746, RefSeq RNA:NM_001005747, RefSeq RNA:NM_001145798, UCSC Genome Browser:NM_000726, UniProtKB:A7BJ74, UniProtKB:A8K1Y4, UniProtKB:B4DG40, UniProtKB:O00305 No chr2 152689285 152955593 151832771 152099988 +PA26015 786 HGNC:1405 ENSG00000108878 calcium voltage-gated channel auxiliary subunit gamma 1 CACNG1 calcium channel, voltage-dependent, gamma subunit 1 CACNLG Yes No Ensembl:ENSG00000108878, GenAtlas:CACNG1, GeneCard:CACNG1, HGNC:HGNC:1405, HumanCyc Gene:HS03175, ModBase:Q06432, NCBI Gene:786, OMIM:114209, RefSeq DNA:NT_010783, RefSeq Protein:NP_000718, RefSeq RNA:NM_000727, UCSC Genome Browser:NM_000727, UniProtKB:Q06432 No chr17 65040652 65052913 67044536 67056797 +PA26016 10369 HGNC:1406 ENSG00000166862 calcium voltage-gated channel auxiliary subunit gamma 2 CACNG2 calcium channel, voltage-dependent, gamma subunit 2 MGC138502, MGC138504, stargazin Yes Yes Comparative Toxicogenomics Database:10369, Ensembl:ENSG00000166862, GenAtlas:CACNG2, GeneCard:CACNG2, HGNC:HGNC:1406, HumanCyc Gene:HS09465, NCBI Gene:10369, OMIM:602911, RefSeq DNA:NT_011520, RefSeq Protein:NP_006069, RefSeq RNA:NM_006078, UCSC Genome Browser:NM_006078, UniProtKB:Q9Y698 No chr22 36956916 37098690 36560869 36702645 +PA26017 10368 HGNC:1407 ENSG00000006116 calcium voltage-gated channel auxiliary subunit gamma 3 CACNG3 calcium channel, voltage-dependent, gamma subunit 3 Yes Yes Ensembl:ENSG00000006116, GenAtlas:CACNG3, GeneCard:CACNG3, HGNC:HGNC:1407, HumanCyc Gene:HS00167, NCBI Gene:10368, OMIM:606403, RefSeq DNA:NT_010393, RefSeq Protein:NP_006530, RefSeq RNA:NM_006539, UCSC Genome Browser:NM_006539, UniProtKB:B3KTH0, UniProtKB:O60359 No chr16 24266874 24373737 24255553 24362416 +PA26018 27092 HGNC:1408 ENSG00000075461 calcium voltage-gated channel auxiliary subunit gamma 4 CACNG4 calcium channel, voltage-dependent, gamma subunit 4 MGC11138, MGC24983 Yes No Ensembl:ENSG00000075461, GenAtlas:CACNG4, GeneCard:CACNG4, HGNC:HGNC:1408, HumanCyc Gene:HS01181, NCBI Gene:27092, OMIM:606404, RefSeq DNA:NT_010783, RefSeq Protein:NP_055220, RefSeq RNA:NM_014405, UCSC Genome Browser:NM_014405, UniProtKB:Q9UBN1 No chr17 64960980 65029518 66964864 67033402 +PA26019 27091 HGNC:1409 ENSG00000075429 calcium voltage-gated channel auxiliary subunit gamma 5 CACNG5 calcium channel, voltage-dependent, gamma subunit 5 Yes No Comparative Toxicogenomics Database:27091, Ensembl:ENSG00000075429, GenAtlas:CACNG5, GeneCard:CACNG5, HGNC:HGNC:1409, HumanCyc Gene:HS01180, NCBI Gene:27091, OMIM:606405, RefSeq DNA:NT_010783, RefSeq Protein:NP_055219, RefSeq Protein:NP_665810, RefSeq RNA:NM_014404, RefSeq RNA:NM_145811, UCSC Genome Browser:NM_014404, UniProtKB:Q9UF02 No chr17 64831235 64881941 66877273 66885278 +PA26020 59285 HGNC:13625 ENSG00000130433 calcium voltage-gated channel auxiliary subunit gamma 6 CACNG6 calcium channel, voltage-dependent, gamma subunit 6 Yes No Ensembl:ENSG00000130433, GenAtlas:CACNG6, GeneCard:CACNG6, HGNC:HGNC:13625, HumanCyc Gene:HS05388, NCBI Gene:59285, OMIM:606898, RefSeq DNA:NT_011109, RefSeq Protein:NP_114103, RefSeq Protein:NP_665813, RefSeq Protein:NP_665814, RefSeq RNA:NM_031897, RefSeq RNA:NM_145814, RefSeq RNA:NM_145815, UCSC Genome Browser:NM_031897, UniProtKB:A6NFR2, UniProtKB:A6NP74, UniProtKB:Q9BXT2 No chr19 54494403 54515920 53991149 54012666 +PA26021 59284 HGNC:13626 ENSG00000105605 calcium voltage-gated channel auxiliary subunit gamma 7 CACNG7 calcium channel, voltage-dependent, gamma subunit 7 Yes No Comparative Toxicogenomics Database:59284, Ensembl:ENSG00000105605, GenAtlas:CACNG7, GeneCard:CACNG7, HGNC:HGNC:13626, HumanCyc Gene:HS02768, NCBI Gene:59284, OMIM:606899, RefSeq DNA:NT_011109, RefSeq Protein:NP_114102, RefSeq RNA:NM_031896, UCSC Genome Browser:NM_031896, UniProtKB:P62955 No chr19 54412704 54447195 53909425 53943944 +PA26022 59283 HGNC:13628 ENSG00000142408 calcium voltage-gated channel auxiliary subunit gamma 8 CACNG8 calcium channel, voltage-dependent, gamma subunit 8 Yes No Ensembl:ENSG00000142408, GenAtlas:CACNG8, GeneCard:CACNG8, HGNC:HGNC:13628, HumanCyc Gene:HS06923, NCBI Gene:59283, OMIM:606900, RefSeq DNA:NT_011109, RefSeq Protein:NP_114101, RefSeq RNA:NM_031895, UCSC Genome Browser:NM_031895, UniProtKB:Q8WXS5 No chr19 54466290 54493469 53963036 53990215 +PA134932683 58509 HGNC:29938 ENSG00000105298 cactin, spliceosome C complex subunit CACTIN NY REN 24 antigen, cactin homolog (Drosophila), functional spliceosome-associated protein c C19orf29, NY-REN-24, cactin, fSAPc Yes No Ensembl:ENSG00000105298, GeneCard:C19orf29, HGNC:HGNC:29938, NCBI Gene:58509, RefSeq DNA:NT_011255, RefSeq Protein:NP_001074012, RefSeq Protein:NP_067054, RefSeq RNA:NM_001080543, RefSeq RNA:NM_021231, UniProtKB:A9UL12, UniProtKB:Q8WUQ7 No chr19 3610626 3626813 3610628 3626815 +PA134866781 404665 HGNC:31391 ENSG00000226800 CACTIN antisense RNA 1 CACTIN-AS1 Yes No Ensembl:ENSG00000226800, GeneCard:C19orf29OS, HGNC:HGNC:31391, NCBI Gene:404665, RefSeq DNA:NT_011255, RefSeq RNA:NR_038865, RefSeq RNA:XR_078668, RefSeq RNA:XR_078852, RefSeq RNA:XR_079396 No chr19 3607245 3613928 3607247 3613930 +PA134869023 143384 HGNC:23727 ENSG00000151893 CDK2 associated cullin domain 1 CACUL1 """CDK2-associated, cullin domain 1"", ""Cdk-Associated Cullin1""" C10orf46, CAC1, FLJ40409, MGC33215 Yes No Ensembl:ENSG00000151893, GeneCard:C10orf46, HGNC:HGNC:23727, HumanCyc Gene:HS14396, ModBase:Q86Y37, NCBI Gene:143384, RefSeq DNA:NT_030059, RefSeq Protein:NP_722517, RefSeq RNA:NM_153810, UniProtKB:Q86Y37 No chr10 120433679 120514758 118680982 118755246 +PA134894213 27101 HGNC:30423 ENSG00000116161 calcyclin binding protein CACYBP S100A6BP, SIP Yes No Comparative Toxicogenomics Database:27101, Ensembl:ENSG00000116161, GeneCard:CACYBP, HGNC:HGNC:30423, HumanCyc Gene:HS03990, ModBase:Q9HB71, NCBI Gene:27101, OMIM:606186, RefSeq DNA:NT_004487, RefSeq Protein:NP_001007215, RefSeq Protein:NP_055227, RefSeq RNA:NM_001007214, RefSeq RNA:NM_014412, UniProtKB:B3KSF1, UniProtKB:Q5R370, UniProtKB:Q5R371, UniProtKB:Q9HB71 No chr1 174968571 174981163 174999435 175012027 +PA26023 790 HGNC:1424 ENSG00000084774 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase CAD GATD4 Yes No Comparative Toxicogenomics Database:790, Ensembl:ENSG00000084774, GenAtlas:CAD, GeneCard:CAD, HGNC:HGNC:1424, HumanCyc Gene:HS01483, ModBase:P27708, NCBI Gene:790, OMIM:114010, RefSeq DNA:NT_022184, RefSeq Protein:NP_004332, RefSeq RNA:NM_004341, UCSC Genome Browser:NM_004341, UniProtKB:P27708 No chr2 27440258 27466660 27217257 27243792 +PA29764 23705 HGNC:5951 ENSG00000182985 cell adhesion molecule 1 CADM1 nectin-like 2 BL2, IGSF4, IGSF4A, NECL2, Necl-2, RA175, ST17, SYNCAM, SYNCAM1, TSLC1 Yes No Comparative Toxicogenomics Database:23705, Ensembl:ENSG00000182985, GenAtlas:IGSF4, GeneCard:CADM1, GeneCard:IGSF4, HGNC:HGNC:5951, ModBase:Q9BY67, NCBI Gene:23705, OMIM:605686, RefSeq DNA:NT_033899, RefSeq Protein:NP_001091987, RefSeq Protein:NP_055148, RefSeq RNA:NM_001098517, RefSeq RNA:NM_014333, UCSC Genome Browser:NM_014333, UniProtKB:Q9BY67 No chr11 115039933 115375241 115173625 115504523 +PA162380882 253559 HGNC:29849 ENSG00000175161 cell adhesion molecule 2 CADM2 nectin-like 3 IGSF4D, NECL3, Necl-3, SynCAM-2, SynCAM2 Yes Yes Ensembl:ENSG00000175161, GeneCard:CADM2, HGNC:HGNC:29849, HumanCyc Gene:HS16440, ModBase:Q8N3J6, NCBI Gene:253559, OMIM:609938, RefSeq DNA:NT_022459, RefSeq Protein:NP_001161146, RefSeq Protein:NP_001161147, RefSeq Protein:NP_694854, RefSeq RNA:NM_001167674, RefSeq RNA:NM_001167675, RefSeq RNA:NM_153184, UniProtKB:Q8N3J6 No chr3 85008133 86123579 84958982 86074429 +PA162380906 57863 HGNC:17601 ENSG00000162706 cell adhesion molecule 3 CADM3 nectin-like 1 BIgR, FLJ10698, IGSF4B, NECL1, Necl-1, SynCAM3, TSLL1 Yes No Ensembl:ENSG00000162706, GeneCard:CADM3, HGNC:HGNC:17601, HumanCyc Gene:HS08723, ModBase:Q8N126, NCBI Gene:57863, OMIM:609743, RefSeq DNA:NT_004487, RefSeq Protein:NP_001120645, RefSeq Protein:NP_067012, RefSeq RNA:NM_001127173, RefSeq RNA:NM_021189, UniProtKB:Q8N126 No chr1 159141377 159172932 159171587 159203142 +PA162380931 199731 HGNC:30825 ENSG00000105767 cell adhesion molecule 4 CADM4 nectin-like 4 IGSF4C, Necl-4, SynCAM4, TSLL2 Yes No Ensembl:ENSG00000105767, GeneCard:CADM4, HGNC:HGNC:30825, HumanCyc Gene:HS12605, ModBase:Q8NFZ8, NCBI Gene:199731, OMIM:609744, RefSeq DNA:NT_011109, RefSeq Protein:NP_660339, RefSeq RNA:NM_145296, UniProtKB:Q8NFZ8 No chr19 44126519 44143991 43622368 43641984 +PA26024 8618 HGNC:1426 ENSG00000163618 calcium dependent secretion activator CADPS Ca++-dependent secretion activator CADPS1, CAPS, CAPS1, KIAA1121, UNC-31 Yes No Comparative Toxicogenomics Database:8618, Ensembl:ENSG00000163618, GenAtlas:CADPS, GeneCard:CADPS, HGNC:HGNC:1426, HumanCyc Gene:HS08893, ModBase:Q9ULU8, NCBI Gene:8618, OMIM:604667, RefSeq DNA:NT_022517, RefSeq Protein:NP_003707, RefSeq Protein:NP_899630, RefSeq Protein:NP_899631, RefSeq RNA:NM_003716, RefSeq RNA:NM_183393, RefSeq RNA:NM_183394, UCSC Genome Browser:NM_003716, UniProtKB:Q9ULU8 No chr3 62384021 62861064 62398346 62875389 +PA26025 93664 HGNC:16018 ENSG00000081803 calcium dependent secretion activator 2 CADPS2 Ca++-dependent secretion activator 2 CAPS2 Yes No Ensembl:ENSG00000081803, GenAtlas:CADPS2, GeneCard:CADPS2, HGNC:HGNC:16018, ModBase:Q9NWK8, NCBI Gene:93664, OMIM:609978, RefSeq DNA:NG_016215, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001009571, RefSeq Protein:NP_001161412, RefSeq Protein:NP_060424, RefSeq RNA:NM_001009571, RefSeq RNA:NM_001167940, RefSeq RNA:NM_017954, UCSC Genome Browser:NM_017954, UniProtKB:B7ZM57, UniProtKB:Q86UW7 No chr7 121958478 122526813 122318424 122886759 +PA134933951 285782 HGNC:21622 ENSG00000164304 cancer antigen 1 CAGE1 cancer/testis antigen 95 CT95, CTAG3, bA69L16.7 Yes No Ensembl:ENSG00000164304, GeneCard:CAGE1, HGNC:HGNC:21622, NCBI Gene:285782, OMIM:608304, RefSeq DNA:NT_007592, RefSeq Protein:NP_001164163, RefSeq Protein:NP_001164164, RefSeq Protein:NP_995586, RefSeq RNA:NM_001170692, RefSeq RNA:NM_001170693, RefSeq RNA:NM_205864, UniProtKB:D6RCT9, UniProtKB:Q8TC20 No chr6 7326887 7389976 7326654 7389709 +PA26026 793 HGNC:1434 ENSG00000104327 calbindin 1 CALB1 """calbindin 1, 28kDa"", ""calbindin-D28k""" CALB Yes No Comparative Toxicogenomics Database:793, Ensembl:ENSG00000104327, GenAtlas:CALB1, GeneCard:CALB1, HGNC:HGNC:1434, HumanCyc Gene:HS02566, ModBase:P05937, NCBI Gene:793, OMIM:114050, RefSeq DNA:NT_008046, RefSeq Protein:NP_004920, RefSeq RNA:NM_004929, UCSC Genome Browser:NM_004929, UniProtKB:B2R696, UniProtKB:P05937 No chr8 91070836 91095107 90058608 90082881 +PA26027 794 HGNC:1435 ENSG00000172137 calbindin 2 CALB2 calretinin CAL2 Yes No Comparative Toxicogenomics Database:794, Ensembl:ENSG00000172137, GenAtlas:CALB2, GeneCard:CALB2, HGNC:HGNC:1435, HumanCyc Gene:HS10452, ModBase:P22676, NCBI Gene:794, OMIM:114051, RefSeq DNA:NT_010498, RefSeq Protein:NP_001731, RefSeq Protein:NP_009018, RefSeq Protein:NP_009019, RefSeq RNA:NM_001740, RefSeq RNA:NM_007087, RefSeq RNA:NM_007088, RefSeq RNA:NR_027910, UCSC Genome Browser:NM_001740, UniProtKB:A6NER6, UniProtKB:P22676 No chr16 71392616 71424341 71358713 71390438 +PA26029 796 HGNC:1437 ENSG00000110680 calcitonin related polypeptide alpha CALCA calcitonin, calcitonin-related polypeptide alpha CALC1, CGRP, CGRP-alpha Yes Yes Comparative Toxicogenomics Database:796, Ensembl:ENSG00000110680, GenAtlas:CALCA, GeneCard:CALCA, HGNC:HGNC:1437, HumanCyc Gene:HS03325, ModBase:P01258, ModBase:P06881, NCBI Gene:796, OMIM:114130, RefSeq DNA:NG_015960, RefSeq DNA:NT_009237, RefSeq Protein:NP_001029124, RefSeq Protein:NP_001029125, RefSeq Protein:NP_001732, RefSeq RNA:NM_001033952, RefSeq RNA:NM_001033953, RefSeq RNA:NM_001741, UCSC Genome Browser:NM_001741, UniProtKB:P01258, UniProtKB:P06881 No chr11 14988214 14993879 14966668 14972361 +PA26030 797 HGNC:1438 ENSG00000175868 calcitonin related polypeptide beta CALCB calcitonin-related polypeptide beta CALC2, CGRP-II, FLJ30166 Yes No Comparative Toxicogenomics Database:797, Ensembl:ENSG00000175868, GenAtlas:CALCB, GeneCard:CALCB, HGNC:HGNC:1438, HumanCyc Gene:HS07804, ModBase:P10092, NCBI Gene:797, OMIM:114160, RefSeq DNA:NT_009237, RefSeq Protein:NP_000719, RefSeq RNA:NM_000728, UCSC Genome Browser:NM_000728, UniProtKB:P10092 No chr11 15095143 15103888 15073600 15078631 +PA128394699 57658 HGNC:29306 ENSG00000012822 calcium binding and coiled-coil domain 1 CALCOCO1 coiled-coil leucine zipper coactivator 1, inorganic pyrophosphatase activator Cocoa, KIAA1536, calphoglin Yes No Comparative Toxicogenomics Database:57658, Ensembl:ENSG00000012822, GeneCard:CALCOCO1, HGNC:HGNC:29306, HumanCyc Gene:HS12046, ModBase:Q9P1Z2, NCBI Gene:57658, RefSeq DNA:NT_029419, RefSeq Protein:NP_001137154, RefSeq Protein:NP_065949, RefSeq RNA:NM_001143682, RefSeq RNA:NM_020898, RefSeq RNA:NR_026554, UCSC Genome Browser:NM_020898, UniProtKB:B3KVA8, UniProtKB:Q9P1Z2 No chr12 54104902 54121307 53711118 53727523 +PA143485407 10241 HGNC:29912 ENSG00000136436 calcium binding and coiled-coil domain 2 CALCOCO2 MGC17318, NDP52 Yes No Comparative Toxicogenomics Database:10241, Ensembl:ENSG00000136436, GeneCard:CALCOCO2, HGNC:HGNC:29912, HumanCyc Gene:HS06159, ModBase:Q13137, NCBI Gene:10241, OMIM:604587, RefSeq DNA:NT_010783, RefSeq Protein:NP_005822, RefSeq RNA:NM_005831, UniProtKB:Q13137 No chr17 46908350 46942607 48830988 48865245 +PA26031 798 HGNC:1439 ENSG00000253179 calcitonin pseudogene CALCP CALC3 Yes No Ensembl:ENSG00000253179, GenAtlas:CALCP, GeneCard:CALCP, HGNC:HGNC:1439, NCBI Gene:798, RefSeq DNA:NG_001088, RefSeq DNA:NT_009237 No chr11 14929045 14929545 14907499 14907999 +PA26032 799 HGNC:1440 ENSG00000004948 calcitonin receptor CALCR CT-R, CTR Yes Yes Comparative Toxicogenomics Database:799, Ensembl:ENSG00000004948, GenAtlas:CALCR, GeneCard:CALCR, HGNC:HGNC:1440, HumanCyc Gene:HS00119, IUPHAR Receptor:43, ModBase:P30988, NCBI Gene:799, OMIM:114131, OMIM:166710, RefSeq DNA:NG_013005, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001158209, RefSeq Protein:NP_001158210, RefSeq Protein:NP_001733, RefSeq RNA:NM_001164737, RefSeq RNA:NM_001164738, RefSeq RNA:NM_001742, UCSC Genome Browser:NM_001742, UniProtKB:A4D1G6, UniProtKB:P30988 No chr7 93053799 93204042 93424487 93574730 +PA26033 10203 HGNC:16709 ENSG00000064989 calcitonin receptor like receptor CALCRL calcitonin receptor-like CGRPR, CRLR Yes Yes Comparative Toxicogenomics Database:10203, Ensembl:ENSG00000064989, GenAtlas:CALCRL, GeneCard:CALCRL, HGNC:HGNC:16709, HumanCyc Gene:HS00823, IUPHAR Receptor:47, ModBase:Q16602, NCBI Gene:10203, OMIM:114190, RefSeq DNA:NT_005403, RefSeq Protein:NP_005786, RefSeq RNA:NM_005795, UCSC Genome Browser:NM_005795, UniProtKB:Q16602 No chr2 188206690 188313021 187341963 187448307 +PA26034 800 HGNC:1441 ENSG00000122786 caldesmon 1 CALD1 CDM, H-CAD, L-CAD, h-CD Yes No Comparative Toxicogenomics Database:800, Ensembl:ENSG00000122786, GenAtlas:CALD1, GeneCard:CALD1, HGNC:HGNC:1441, HumanCyc Gene:HS04602, ModBase:Q05682, NCBI Gene:800, OMIM:114213, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_004333, RefSeq Protein:NP_149129, RefSeq Protein:NP_149130, RefSeq Protein:NP_149131, RefSeq Protein:NP_149347, RefSeq RNA:NM_004342, RefSeq RNA:NM_033138, RefSeq RNA:NM_033139, RefSeq RNA:NM_033140, RefSeq RNA:NM_033157, UCSC Genome Browser:NM_004342, UniProtKB:A8K0X1, UniProtKB:Q05682 No chr7 134464164 134655480 134779413 134970729 +PA162380954 255022 HGNC:23494 ENSG00000185933 calcium homeostasis modulator 1 CALHM1 FAM26C Yes No Ensembl:ENSG00000185933, GeneCard:CALHM1, HGNC:HGNC:23494, NCBI Gene:255022, OMIM:612234, RefSeq DNA:NG_016855, RefSeq DNA:NT_030059, RefSeq Protein:NP_001001412, RefSeq RNA:NM_001001412, UniProtKB:Q8IU99 No chr10 105213144 105218648 103453387 103458891 +PA162380963 51063 HGNC:23493 ENSG00000138172 calcium homeostasis modulator family member 2 CALHM2 calcium homeostasis modulator 2 FAM26B Yes No Ensembl:ENSG00000138172, GeneCard:CALHM2, HGNC:HGNC:23493, HumanCyc Gene:HS13715, NCBI Gene:51063, OMIM:612235, RefSeq DNA:NT_030059, RefSeq Protein:NP_057000, RefSeq RNA:NM_015916, RefSeq RNA:NR_024552, UniProtKB:Q9HA72 No chr10 105206543 105212162 103446785 103452419 +PA162380976 119395 HGNC:23458 ENSG00000183128 calcium homeostasis modulator 3 CALHM3 FAM26A, bA225H22.7 Yes No Ensembl:ENSG00000183128, GeneCard:CALHM3, HGNC:HGNC:23458, NCBI Gene:119395, RefSeq DNA:NT_030059, RefSeq Protein:NP_001123214, RefSeq RNA:NM_001129742, UniProtKB:Q86XJ0 No chr10 105232561 105238997 103472804 103479240 +PA162387625 221301 HGNC:21094 ENSG00000164451 calcium homeostasis modulator family member 4 CALHM4 family with sequence similarity 26, member D C6orf78, FAM26D, FLJ32239 Yes No Ensembl:ENSG00000164451, GeneCard:FAM26D, HGNC:HGNC:21094, HumanCyc Gene:HS15198, NCBI Gene:221301, RefSeq DNA:NT_025741, RefSeq Protein:NP_694581, RefSeq RNA:NM_153036, UniProtKB:Q5JW98 No chr6 116850176 116880031 116529013 116561123 +PA162387635 254228 HGNC:21568 ENSG00000178033 calcium homeostasis modulator family member 5 CALHM5 family with sequence similarity 26, member E C6orf188, FAM26E, MGC45451, dJ493F7.3 Yes No Ensembl:ENSG00000178033, GeneCard:FAM26E, HGNC:HGNC:21568, HumanCyc Gene:HS16971, NCBI Gene:254228, RefSeq DNA:NT_025741, RefSeq Protein:NP_714922, RefSeq RNA:NM_153711, UniProtKB:Q8N5C1 No chr6 116832808 116839709 116511645 116524792 +PA162387644 441168 HGNC:33391 ENSG00000188820 calcium homeostasis modulator family member 6 CALHM6 """IFN regulatory factor 3-dependent NK-activating molecule"", ""family with sequence similarity 26, member F""" C6orf187, FAM26F, INAM, OTTHUMP00000017061, OTTHUMP00000017062, RP1-93H18.5, dJ93H18.5 Yes No Ensembl:ENSG00000188820, GeneCard:FAM26F, HGNC:HGNC:33391, NCBI Gene:441168, RefSeq DNA:NT_025741, RefSeq Protein:NP_001010919, RefSeq RNA:NM_001010919, UniProtKB:Q5R3K3 No chr6 116782533 116784948 116461370 116463782 +PA26035 801 HGNC:1442 ENSG00000143933, ENSG00000160014, ENSG00000198668 calmodulin 1 CALM1 """calmodulin 1 (phosphorylase kinase, delta)"", ""phosphorylase kinase subunit delta"", ""phosphorylase kinase subunit delta 1"", ""prepro-calmodulin 1""" CALML2, CAMI, DD132, PHKD, PHKD1 Yes Yes Comparative Toxicogenomics Database:801, Ensembl:ENSG00000143933, Ensembl:ENSG00000160014, Ensembl:ENSG00000198668, GenAtlas:CALM1, GeneCard:CALM1, HGNC:HGNC:1442, HumanCyc Gene:HS07128, NCBI Gene:801, OMIM:114180, RefSeq DNA:NG_013338, RefSeq DNA:NT_026437, RefSeq Protein:NP_001159578, RefSeq Protein:NP_008819, RefSeq RNA:NM_001166106, RefSeq RNA:NM_006888, UCSC Genome Browser:NM_006888, UniProtKB:Q96HY3 No chr14 90863327 90874619 90396983 90408275 +PA26036 802 HGNC:1443 ENSG00000223467 calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 CALM1P1 Yes No Ensembl:ENSG00000223467, GenAtlas:CALM1P1, GeneCard:CALM1P1, HGNC:HGNC:1443, NCBI Gene:802, RefSeq DNA:NG_001089, RefSeq DNA:NT_011651 No chrX 94754807 94754914 95499808 95499915 +PA26037 804 HGNC:1444 ENSG00000230564 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 CALM1P2 TCAG_1643085 Yes No Ensembl:ENSG00000230564, GenAtlas:CALM1P2, GeneCard:CALM1P2, HGNC:HGNC:1444, NCBI Gene:804, RefSeq DNA:NG_001090, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592 No chr7 55327411 55327794 55259718 55260101 +PA26038 805 HGNC:1445 ENSG00000143933, ENSG00000160014, ENSG00000198668 calmodulin 2 CALM2 """calmodulin 2 (phosphorylase kinase, delta)"", ""phosphorylase kinase subunit delta"", ""phosphorylase kinase subunit delta 2"", ""prepro-calmodulin 2""" CAMII, PHKD, PHKD2 Yes No Comparative Toxicogenomics Database:805, Ensembl:ENSG00000143933, Ensembl:ENSG00000160014, Ensembl:ENSG00000198668, GenAtlas:CALM2, GeneCard:CALM2, HGNC:HGNC:1445, NCBI Gene:805, OMIM:114182, RefSeq DNA:NT_022184, RefSeq Protein:NP_001734, RefSeq RNA:NM_001743, UCSC Genome Browser:NM_001743 No chr2 47387221 47404229 47160082 47176936 +PA26039 100128390 HGNC:1446 ENSG00000267170 calmodulin 2 pseudogene 1 CALM2P1 Yes No Ensembl:ENSG00000267170, GenAtlas:CALM2P1, GeneCard:CALM2P1, HGNC:HGNC:1446, NCBI Gene:100128390, RefSeq DNA:NG_002716, RefSeq DNA:NT_010783 No chr17 68237388 68238519 70241307 70242378 +PA26040 806 HGNC:1447 ENSG00000229097 calmodulin 2 pseudogene 2 CALM2P2 Yes No Ensembl:ENSG00000229097, GenAtlas:CALM2P2, GeneCard:CALM2P2, HGNC:HGNC:1447, NCBI Gene:806, RefSeq DNA:NG_001091, RefSeq DNA:NT_030059 No chr10 71923365 71924497 70163652 70164741 +PA26041 807 HGNC:1448 ENSG00000215482 calmodulin 2 pseudogene 3 CALM2P3 Yes No Ensembl:ENSG00000215482, GenAtlas:CALM2P3, GeneCard:CALM2P3, HGNC:HGNC:1448, NCBI Gene:807, RefSeq DNA:NG_004858, RefSeq DNA:NT_024524 No chr13 41744724 41745342 41170588 41171229 +PA26042 808 HGNC:1449 ENSG00000160014 calmodulin 3 CALM3 """calmodulin 3 (phosphorylase kinase, delta)"", ""phosphorylase kinase subunit delta"", ""phosphorylase kinase subunit delta 3"", ""prepro-calmodulin 3""" PHKD, PHKD3 Yes No Comparative Toxicogenomics Database:808, Ensembl:ENSG00000160014, GenAtlas:CALM3, GeneCard:CALM3, HGNC:HGNC:1449, HumanCyc Gene:HS08440, ModBase:Q96HK3, NCBI Gene:808, OMIM:114183, RefSeq DNA:NT_011109, RefSeq Protein:NP_005175, RefSeq RNA:NM_005184, UCSC Genome Browser:NM_005184, UniProtKB:B4DJ51, UniProtKB:P62158, UniProtKB:Q9BRL5 No chr19 47104512 47114039 46601255 46610782 +PA26044 810 HGNC:1452 ENSG00000178363 calmodulin like 3 CALML3 calmodulin-like 3 CLP Yes No Ensembl:ENSG00000178363, GenAtlas:CALML3, GeneCard:CALML3, HGNC:HGNC:1452, HumanCyc Gene:HS11281, ModBase:P27482, NCBI Gene:810, OMIM:114184, RefSeq DNA:NT_008705, RefSeq Protein:NP_005176, RefSeq RNA:NM_005185, UCSC Genome Browser:NM_005185, UniProtKB:P27482 No chr10 5566924 5568231 5524889 5526268 +PA134903345 91860 HGNC:18445 ENSG00000129007 calmodulin like 4 CALML4 calmodulin-like 4 MGC4809, NY-BR-20 Yes No Comparative Toxicogenomics Database:91860, Ensembl:ENSG00000129007, GeneCard:CALML4, HGNC:HGNC:18445, ModBase:Q96GE6, NCBI Gene:91860, RefSeq DNA:NT_010194, RefSeq Protein:NP_001026903, RefSeq Protein:NP_219501, RefSeq RNA:NM_001031733, RefSeq RNA:NM_033429, UniProtKB:Q6MZY3, UniProtKB:Q96GE6 No chr15 68483043 68498448 68190705 68206110 +PA134862009 51806 HGNC:18180 ENSG00000178372 calmodulin like 5 CALML5 calmodulin-like 5, calmodulin-like skin protein CLSP Yes No Ensembl:ENSG00000178372, GeneCard:CALML5, HGNC:HGNC:18180, HumanCyc Gene:HS11282, ModBase:Q9NZT1, NCBI Gene:51806, OMIM:605183, RefSeq DNA:NT_008705, RefSeq Protein:NP_059118, RefSeq RNA:NM_017422, UniProtKB:Q53H37, UniProtKB:Q9NZT1 No chr10 5540658 5541533 5498695 5499570 +PA134968051 163688 HGNC:24193 ENSG00000169885 calmodulin like 6 CALML6 calmodulin-like 6 CAGLP Yes No Ensembl:ENSG00000169885, GeneCard:CALML6, HGNC:HGNC:24193, HumanCyc Gene:HS10026, ModBase:Q8TD86, NCBI Gene:163688, OMIM:610171, RefSeq DNA:NT_004350, RefSeq Protein:NP_619650, RefSeq RNA:NM_138705, UniProtKB:Q8TD86 No chr1 1846266 1848733 1913751 1917294 +PA26045 83698 HGNC:13248 ENSG00000183166 calneuron 1 CALN1 calcium-binding protein CABP8 CABP8 Yes No Ensembl:ENSG00000183166, GenAtlas:CALN1, GeneCard:CALN1, HGNC:HGNC:13248, ModBase:Q9BXU9, NCBI Gene:83698, OMIM:607176, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001017440, RefSeq Protein:NP_113656, RefSeq RNA:NM_001017440, RefSeq RNA:NM_031468, UCSC Genome Browser:NM_031468, UniProtKB:A4D1Z1, UniProtKB:Q9BXU9 No chr7 71244476 71912136 71779491 72504271 +PA26046 811 HGNC:1455 ENSG00000179218 calreticulin CALR Sicca syndrome antigen A (autoantigen Ro; calreticulin), autoantigen Ro, calregulin CALR1, CRT, FLJ26680, RO, SSA, cC1qR Yes No Comparative Toxicogenomics Database:811, Ensembl:ENSG00000179218, GenAtlas:CALR, GeneCard:CALR, HGNC:HGNC:1455, HumanCyc Gene:HS11361, ModBase:P27797, NCBI Gene:811, OMIM:109091, RefSeq DNA:NT_011295, RefSeq Protein:NP_004334, RefSeq RNA:NM_004343, UCSC Genome Browser:NM_004343, UniProtKB:P27797 No chr19 13049414 13055304 12938600 12944490 +PA134922944 125972 HGNC:20407 ENSG00000269058 calreticulin 3 CALR3 calsperin, cancer/testis antigen 93 CRT2, CT93, FLJ25355, MGC26577 Yes No Comparative Toxicogenomics Database:125972, Ensembl:ENSG00000269058, GeneCard:CALR3, HGNC:HGNC:20407, HumanCyc Gene:HS06884, ModBase:Q96L12, NCBI Gene:125972, OMIM:611414, RefSeq DNA:NT_011295, RefSeq Protein:NP_659483, RefSeq RNA:NM_145046, UniProtKB:Q96L12 No chr19 16589767 16607015 16479057 16496192 +PA26047 813 HGNC:1458 ENSG00000128595 calumenin CALU Yes Yes Comparative Toxicogenomics Database:813, Ensembl:ENSG00000128595, GenAtlas:CALU, GeneCard:CALU, HGNC:HGNC:1458, HumanCyc Gene:HS05201, ModBase:O43852, NCBI Gene:813, OMIM:603420, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001124146, RefSeq Protein:NP_001186600, RefSeq Protein:NP_001186601, RefSeq Protein:NP_001186602, RefSeq Protein:NP_001186603, RefSeq Protein:NP_001210, RefSeq RNA:NM_001130674, RefSeq RNA:NM_001199671, RefSeq RNA:NM_001199672, RefSeq RNA:NM_001199673, RefSeq RNA:NM_001199674, RefSeq RNA:NM_001219, UCSC Genome Browser:NM_001219, UniProtKB:B3KNG6, UniProtKB:O43852, UniProtKB:Q6IAW5 No chr7 128379346 128413477 128739292 128773423 +PA162380987 50632 HGNC:17938 ENSG00000130643 calcyon neuron specific vesicular protein CALY calcyon neuron-specific vesicular protein CALCYON, DRD1IP, NSG3 Yes No Ensembl:ENSG00000130643, GeneCard:CALY, HGNC:HGNC:17938, HumanCyc Gene:HS05413, ModBase:Q9NYX4, NCBI Gene:50632, OMIM:604647, RefSeq DNA:NT_008818, RefSeq Protein:NP_056537, RefSeq RNA:NM_015722, UniProtKB:Q9NYX4 No chr10 135138928 135150482 133325423 133336983 +PA26048 8536 HGNC:1459 ENSG00000134072 calcium/calmodulin dependent protein kinase I CAMK1 calcium/calmodulin-dependent protein kinase I CaMKI, CaMKI-alpha Yes No Comparative Toxicogenomics Database:8536, Ensembl:ENSG00000134072, GenAtlas:CAMK1, GeneCard:CAMK1, HGNC:HGNC:1459, HumanCyc Gene:HS05815, ModBase:Q14012, NCBI Gene:8536, OMIM:604998, RefSeq DNA:NT_022517, RefSeq Protein:NP_003647, RefSeq RNA:NM_003656, UCSC Genome Browser:NM_003656, UniProtKB:B0YIY3, UniProtKB:Q14012 No chr3 9799029 9811676 9757345 9769987 +PA134992438 57118 HGNC:19341 ENSG00000183049 calcium/calmodulin dependent protein kinase ID CAMK1D calcium/calmodulin-dependent protein kinase ID CKLiK Yes Yes Comparative Toxicogenomics Database:57118, Ensembl:ENSG00000183049, GeneCard:CAMK1D, HGNC:HGNC:19341, HumanCyc Gene:HS11976, ModBase:Q8IU85, NCBI Gene:57118, OMIM:607957, RefSeq DNA:NT_008705, RefSeq Protein:NP_065130, RefSeq Protein:NP_705718, RefSeq RNA:NM_020397, RefSeq RNA:NM_153498, UniProtKB:Q5SQQ7, UniProtKB:Q8IU85 No chr10 12391583 12871735 12349514 12835545 +PA26049 57172 HGNC:14585 ENSG00000008118 calcium/calmodulin dependent protein kinase IG CAMK1G calcium/calmodulin-dependent protein kinase IG CLICKIII, VWS1, dJ272L16.1 Yes No Ensembl:ENSG00000008118, GenAtlas:CAMK1G, GeneCard:CAMK1G, HGNC:HGNC:14585, HumanCyc Gene:HS00231, ModBase:Q96NX5, NCBI Gene:57172, RefSeq DNA:NT_167186, RefSeq Protein:NP_065172, RefSeq RNA:NM_020439, UCSC Genome Browser:NM_020439, UniProtKB:Q96NX5 No chr1 209757045 209787284 209583700 209613939 +PA90 815 HGNC:1460 ENSG00000070808 calcium/calmodulin dependent protein kinase II alpha CAMK2A CaM kinase II alpha subunit, CaM-kinase II alpha chain, CaMK-II alpha subunit, calcium/calmodulin-dependent protein kinase II alpha, calcium/calmodulin-dependent protein kinase II alpha-B subunit, calcium/calmodulin-dependent protein kinase type II alpha chain CAMKA, CaMKIINalpha, CaMKIIα, KIAA0968 Yes No Comparative Toxicogenomics Database:815, Ensembl:ENSG00000070808, GenAtlas:CAMK2A, GeneCard:CAMK2A, HGNC:HGNC:1460, HumanCyc Gene:HS01013, ModBase:Q9UQM7, NCBI Gene:815, OMIM:114078, RefSeq DNA:NT_029289, RefSeq Protein:NP_057065, RefSeq Protein:NP_741960, RefSeq RNA:NM_015981, RefSeq RNA:NM_171825, UCSC Genome Browser:NM_015981, UniProtKB:A8K161, UniProtKB:Q7LDD5, UniProtKB:Q8IWE0, UniProtKB:Q9UQM7 No chr5 149599054 149669403 150219491 150289840 +PA91 816 HGNC:1461 ENSG00000058404 calcium/calmodulin dependent protein kinase II beta CAMK2B CaM kinase II beta subunit, CaM-kinase II beta chain, calcium/calmodulin-dependent protein kinase II beta, calcium/calmodulin-dependent protein kinase type II beta chain, proline rich calmodulin-dependent protein kinase CAM2, CAMK2, CAMKB, CaMKIIβ Yes No Comparative Toxicogenomics Database:816, Ensembl:ENSG00000058404, GenAtlas:CAMK2B, GeneCard:CAMK2B, HGNC:HGNC:1461, HumanCyc Gene:HS00722, ModBase:Q9UGH7, NCBI Gene:816, OMIM:607707, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001211, RefSeq Protein:NP_742075, RefSeq Protein:NP_742076, RefSeq Protein:NP_742077, RefSeq Protein:NP_742078, RefSeq Protein:NP_742079, RefSeq Protein:NP_742080, RefSeq Protein:NP_742081, RefSeq RNA:NM_001220, RefSeq RNA:NM_172078, RefSeq RNA:NM_172079, RefSeq RNA:NM_172080, RefSeq RNA:NM_172081, RefSeq RNA:NM_172082, RefSeq RNA:NM_172083, RefSeq RNA:NM_172084, UCSC Genome Browser:NM_001220, UniProtKB:A4D2J9, UniProtKB:A4D2K5, UniProtKB:Q13554 No chr7 44256749 44365230 44217150 44325994 +PA92 817 HGNC:1462 ENSG00000145349 calcium/calmodulin dependent protein kinase II delta CAMK2D calcium/calmodulin-dependent protein kinase II delta CAMKD Yes No Comparative Toxicogenomics Database:817, Ensembl:ENSG00000145349, GenAtlas:CAMK2D, GeneCard:CAMK2D, HGNC:HGNC:1462, HumanCyc Gene:HS07247, ModBase:Q13557, NCBI Gene:817, OMIM:607708, RefSeq DNA:NT_016354, RefSeq Protein:NP_001212, RefSeq Protein:NP_742112, RefSeq Protein:NP_742113, RefSeq Protein:NP_742125, RefSeq Protein:NP_742126, RefSeq Protein:NP_742127, RefSeq RNA:NM_001221, RefSeq RNA:NM_172114, RefSeq RNA:NM_172115, RefSeq RNA:NM_172127, RefSeq RNA:NM_172128, RefSeq RNA:NM_172129, UCSC Genome Browser:NM_001221, UniProtKB:A8MVS8, UniProtKB:Q13557 No chr4 114372188 114683669 113451032 113761927 +PA93 818 HGNC:1463 ENSG00000148660 calcium/calmodulin dependent protein kinase II gamma CAMK2G calcium/calmodulin-dependent protein kinase II gamma CAMKG Yes No Comparative Toxicogenomics Database:818, Ensembl:ENSG00000148660, GenAtlas:CAMK2G, GeneCard:CAMK2G, HGNC:HGNC:1463, HumanCyc Gene:HS07546, ModBase:Q8N4I3, NCBI Gene:818, OMIM:602123, RefSeq DNA:NT_030059, RefSeq Protein:NP_001191421, RefSeq Protein:NP_001213, RefSeq Protein:NP_751909, RefSeq Protein:NP_751910, RefSeq Protein:NP_751911, RefSeq Protein:NP_751913, RefSeq RNA:NM_001204492, RefSeq RNA:NM_001222, RefSeq RNA:NM_172169, RefSeq RNA:NM_172170, RefSeq RNA:NM_172171, RefSeq RNA:NM_172173, UCSC Genome Browser:NM_001222, UniProtKB:O00561, UniProtKB:Q13280, UniProtKB:Q13555, UniProtKB:Q5SWX4 No chr10 75572259 75634349 73812501 73874591 +PA142672209 55450 HGNC:24190 ENSG00000162545 calcium/calmodulin dependent protein kinase II inhibitor 1 CAMK2N1 calcium/calmodulin-dependent protein kinase II inhibitor 1 CaMKIINalpha Yes Yes Comparative Toxicogenomics Database:55450, Ensembl:ENSG00000162545, GeneCard:CAMK2N1, HGNC:HGNC:24190, NCBI Gene:55450, RefSeq DNA:NT_004610, RefSeq Protein:NP_061054, RefSeq RNA:NM_018584, UniProtKB:Q7Z7J9 No chr1 20808884 20812728 20482391 20486235 +PA142672210 94032 HGNC:24197 ENSG00000163888 calcium/calmodulin dependent protein kinase II inhibitor 2 CAMK2N2 calcium/calmodulin-dependent protein kinase II inhibitor 2 CaM-KIIN Yes No Comparative Toxicogenomics Database:94032, Ensembl:ENSG00000163888, GeneCard:CAMK2N2, HGNC:HGNC:24197, HumanCyc Gene:HS15121, NCBI Gene:94032, OMIM:608721, RefSeq DNA:NT_005612, RefSeq Protein:NP_150284, RefSeq RNA:NM_033259, UniProtKB:Q96S95 No chr3 183977003 183979251 184259215 184261463 +PA26050 814 HGNC:1464 ENSG00000152495 calcium/calmodulin dependent protein kinase IV CAMK4 CAM kinase IV, CAM kinase- GR, brain Ca++-calmodulin-dependent protein kinase type IV, calcium/calmodulin-dependent protein kinase IV, calcium/calmodulin-dependent protein kinase type IV catalytic chain CaMK-GR, CaMKIV Yes Yes Comparative Toxicogenomics Database:814, Ensembl:ENSG00000152495, GenAtlas:CAMK4, GeneCard:CAMK4, HGNC:HGNC:1464, HumanCyc Gene:HS07828, ModBase:Q16566, NCBI Gene:814, OMIM:114080, RefSeq DNA:NT_034772, RefSeq Protein:NP_001735, RefSeq RNA:NM_001744, UCSC Genome Browser:NM_001744, UniProtKB:Q16566 No chr5 110559947 110830584 111223653 111498503 +PA26051 84254 HGNC:1469 ENSG00000004660 calcium/calmodulin dependent protein kinase kinase 1 CAMKK1 """calcium/calmodulin-dependent protein kinase kinase 1, alpha"", ""calcium/calmodulin-dependent protein kinase kinase alpha""" CAMKKA, DKFZp761M0423, MGC34095 Yes No Comparative Toxicogenomics Database:84254, Ensembl:ENSG00000004660, GenAtlas:CAMKK1, GeneCard:CAMKK1, HGNC:HGNC:1469, HumanCyc Gene:HS00108, ModBase:Q8N5S9, NCBI Gene:84254, OMIM:611411, RefSeq DNA:NT_010718, RefSeq Protein:NP_115670, RefSeq Protein:NP_757343, RefSeq Protein:NP_757344, RefSeq RNA:NM_032294, RefSeq RNA:NM_172206, RefSeq RNA:NM_172207, UCSC Genome Browser:NM_032294, UniProtKB:Q8N5S9 No chr17 3763609 3796337 3860315 3894891 +PA26052 10645 HGNC:1470 ENSG00000110931 calcium/calmodulin dependent protein kinase kinase 2 CAMKK2 """calcium/calmodulin-dependent protein kinase kinase 2, beta"", ""calcium/calmodulin-dependent protein kinase kinase beta""" CAMKK, CAMKKB, KIAA0787, MGC15254 Yes Yes Comparative Toxicogenomics Database:10645, Ensembl:ENSG00000110931, GenAtlas:CAMKK2, GeneCard:CAMKK2, HGNC:HGNC:1470, HumanCyc Gene:HS03356, ModBase:Q9Y5N2, NCBI Gene:10645, RefSeq DNA:NT_009775, RefSeq Protein:NP_006540, RefSeq Protein:NP_705719, RefSeq Protein:NP_705720, RefSeq Protein:NP_757363, RefSeq Protein:NP_757364, RefSeq Protein:NP_757365, RefSeq Protein:NP_757380, RefSeq RNA:NM_006549, RefSeq RNA:NM_153499, RefSeq RNA:NM_153500, RefSeq RNA:NM_172214, RefSeq RNA:NM_172215, RefSeq RNA:NM_172216, RefSeq RNA:NM_172226, UCSC Genome Browser:NM_006549, UniProtKB:Q96RR4 No chr12 121675495 121736111 121237692 121298308 +PA142672380 79823 HGNC:26276 ENSG00000143919 calmodulin-lysine N-methyltransferase CAMKMT CaM KMT C2orf34, CLNMT Yes No Comparative Toxicogenomics Database:79823, Ensembl:ENSG00000143919, GeneCard:C2orf34, HGNC:HGNC:26276, ModBase:Q7Z624, NCBI Gene:79823, OMIM:609559, RefSeq DNA:NT_022184, RefSeq Protein:NP_079042, RefSeq RNA:NM_024766, UniProtKB:Q7Z624 No chr2 44589043 44999731 44361714 44774388 +PA142672205 79012 HGNC:28788 ENSG00000164076 CaM kinase like vesicle associated CAMKV CaM kinase-like vesicle-associated MGC8407, VACAMKL Yes No Ensembl:ENSG00000164076, GeneCard:CAMKV, HGNC:HGNC:28788, HumanCyc Gene:HS09001, ModBase:Q9H0Q5, NCBI Gene:79012, RefSeq DNA:NT_022517, RefSeq Protein:NP_076951, RefSeq RNA:NM_024046, UniProtKB:Q8NCB2 No chr3 49895414 49907655 49857981 49870222 +PA26053 819 HGNC:1471 ENSG00000164615 calcium modulating ligand CAMLG calcium-modulating cyclophilin ligand, calcium-signal modulating cyclophilin ligand, cyclophilin B-binding protein CAML, GET2 Yes No Ensembl:ENSG00000164615, GenAtlas:CAMLG, GeneCard:CAMLG, HGNC:HGNC:1471, HumanCyc Gene:HS09106, ModBase:P49069, NCBI Gene:819, OMIM:601118, RefSeq DNA:NT_034772, RefSeq Protein:NP_001736, RefSeq RNA:NM_001745, UCSC Genome Browser:NM_001745, UniProtKB:A1L3Y3, UniProtKB:P49069 No chr5 134074170 134087850 134737927 134752160 +PA26054 820 HGNC:1472 ENSG00000164047 cathelicidin antimicrobial peptide CAMP CAP18, FALL-39, FALL39, LL37 Yes No Comparative Toxicogenomics Database:820, Ensembl:ENSG00000164047, GenAtlas:CAMP, GeneCard:CAMP, HGNC:HGNC:1472, HumanCyc Gene:HS08990, ModBase:P49913, NCBI Gene:820, OMIM:600474, RefSeq DNA:NT_022517, RefSeq Protein:NP_004336, RefSeq RNA:NM_004345, UCSC Genome Browser:NM_004345, UniProtKB:P49913 No chr3 48264837 48266981 48223347 48225491 +PA134866541 157922 HGNC:19946 ENSG00000130559 calmodulin regulated spectrin associated protein 1 CAMSAP1 calmodulin regulated spectrin-associated protein 1 DKFZp434F195, FLJ31228 Yes No Comparative Toxicogenomics Database:157922, Ensembl:ENSG00000130559, GeneCard:CAMSAP1, HGNC:HGNC:19946, NCBI Gene:157922, RefSeq DNA:NT_019501, RefSeq Protein:NP_056262, RefSeq RNA:NM_015447, UniProtKB:Q5T5Y3 No chr9 138700333 138799060 135808487 135907551 +PA142672206 23271 HGNC:29188 ENSG00000118200 calmodulin regulated spectrin associated protein family member 2 CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 CAMSAP1L1, KIAA1078 Yes No Comparative Toxicogenomics Database:23271, Ensembl:ENSG00000118200, GeneCard:CAMSAP1L1, HGNC:HGNC:29188, NCBI Gene:23271, RefSeq DNA:NT_004487, RefSeq Protein:NP_982284, RefSeq RNA:NM_203459, UniProtKB:B3KTI4, UniProtKB:Q08AD1 No chr1 200708686 200829832 200738905 200860707 +PA134885087 57662 HGNC:29307 ENSG00000076826 calmodulin regulated spectrin associated protein family member 3 CAMSAP3 """calmodulin regulated spectrin-associated protein family, member 3"", ""protein phosphatase 1, regulatory subunit 80""" KIAA1543, Nezha, PPP1R80 Yes No Ensembl:ENSG00000076826, GeneCard:KIAA1543, HGNC:HGNC:29307, ModBase:Q9P1Y5, NCBI Gene:57662, OMIM:612685, RefSeq DNA:NT_077812, RefSeq Protein:NP_001073898, RefSeq Protein:NP_065953, RefSeq RNA:NM_001080429, RefSeq RNA:NM_020902, UniProtKB:Q9P1Y5 No chr19 7660774 7683196 7595902 7618310 +PA38688 23261 HGNC:18806 ENSG00000171735 calmodulin binding transcription activator 1 CAMTA1 KIAA0833 Yes No Ensembl:ENSG00000171735, GenAtlas:CAMTA1, GeneCard:CAMTA1, HGNC:HGNC:18806, ModBase:Q9Y6Y1, NCBI Gene:23261, OMIM:611501, RefSeq DNA:NT_021937, RefSeq Protein:NP_001182492, RefSeq Protein:NP_001229630, RefSeq Protein:NP_056030, RefSeq RNA:NM_001195563, RefSeq RNA:NM_001242701, RefSeq RNA:NM_015215, RefSeq RNA:NR_038934, UniProtKB:Q9Y6Y1 No chr1 6845384 7829766 6785324 7769706 +PA38689 23125 HGNC:18807 ENSG00000108509 calmodulin binding transcription activator 2 CAMTA2 KIAA0909 Yes No Ensembl:ENSG00000108509, GenAtlas:CAMTA2, GeneCard:CAMTA2, HGNC:HGNC:18807, HumanCyc Gene:HS12675, ModBase:O94983, NCBI Gene:23125, OMIM:611508, RefSeq DNA:NT_010718, RefSeq Protein:NP_001164637, RefSeq Protein:NP_001164638, RefSeq Protein:NP_001164639, RefSeq Protein:NP_055914, RefSeq RNA:NM_001171166, RefSeq RNA:NM_001171167, RefSeq RNA:NM_001171168, RefSeq RNA:NM_015099, UCSC Genome Browser:NM_015099, UniProtKB:O94983 No chr17 4871287 4890960 4967992 4988297 +PA142672207 55832 HGNC:30688 ENSG00000111530 cullin associated and neddylation dissociated 1 CAND1 TBP interacting protein, cullin-associated and neddylation-dissociated 1 DKFZp434M1414, KIAA0829, TIP120, TIP120A Yes No Comparative Toxicogenomics Database:55832, Ensembl:ENSG00000111530, GeneCard:CAND1, HGNC:HGNC:30688, HumanCyc Gene:HS12740, ModBase:Q9P0H7, NCBI Gene:55832, OMIM:607727, RefSeq DNA:NT_029419, RefSeq Protein:NP_060918, RefSeq RNA:NM_018448, UniProtKB:Q86VP6 No chr12 67663061 67708388 67269281 67314692 +PA142672208 23066 HGNC:30689 ENSG00000144712 cullin associated and neddylation dissociated 2 (putative) CAND2 TBP interacting protein, cullin-associated and neddylation-dissociated 2 (putative) KIAA0667, TIP120B, Tp120b Yes No Comparative Toxicogenomics Database:23066, Ensembl:ENSG00000144712, GeneCard:CAND2, HGNC:HGNC:30689, ModBase:O75155, NCBI Gene:23066, OMIM:610403, RefSeq DNA:NT_022517, RefSeq Protein:NP_001155971, RefSeq Protein:NP_036430, RefSeq RNA:NM_001162499, RefSeq RNA:NM_012298, UniProtKB:O75155 No chr3 12838171 12876313 12796654 12834818 +PA134984439 124583 HGNC:19721 ENSG00000171302 calcium activated nucleotidase 1 CANT1 """Soluble Ca-Activated Nucleotidase, isozyme 1"", ""apyrase 1 homolog (C. lectularius)""" SCAN-1, SHAPY Yes No Comparative Toxicogenomics Database:124583, Ensembl:ENSG00000171302, GeneCard:CANT1, HGNC:HGNC:19721, HumanCyc Gene:HS15974, NCBI Gene:124583, OMIM:251450, OMIM:613165, RefSeq DNA:NG_016645, RefSeq DNA:NT_010783, RefSeq Protein:NP_001153244, RefSeq Protein:NP_001153245, RefSeq Protein:NP_620148, RefSeq RNA:NM_001159772, RefSeq RNA:NM_001159773, RefSeq RNA:NM_138793, UniProtKB:Q8WVQ1 No chr17 76987798 77005899 78991716 79009817 +PA26055 821 HGNC:1473 ENSG00000127022 calnexin CANX major histocompatibility complex class I antigen-binding protein p88 CNX, IP90, P90 Yes No Comparative Toxicogenomics Database:821, Ensembl:ENSG00000127022, GenAtlas:CANX, GeneCard:CANX, HGNC:HGNC:1473, HumanCyc Gene:HS05069, ModBase:P27824, NCBI Gene:821, OMIM:114217, RefSeq DNA:NT_023133, RefSeq Protein:NP_001019820, RefSeq Protein:NP_001737, RefSeq RNA:NM_001024649, RefSeq RNA:NM_001746, UCSC Genome Browser:NM_001746, UniProtKB:P27824 No chr5 179125019 179158642 179678631 179731641 +PA399 10487 HGNC:20040 ENSG00000131236 cyclase associated actin cytoskeleton regulatory protein 1 CAP1 CAP, adenylate cyclase-associated protein 1 (yeast) CAP Yes No Comparative Toxicogenomics Database:10487, Ensembl:ENSG00000131236, GeneCard:CAP1, HGNC:HGNC:20040, HumanCyc Gene:HS05504, ModBase:Q01518, NCBI Gene:10487, RefSeq DNA:NT_032977, RefSeq Protein:NP_001099000, RefSeq Protein:NP_006358, RefSeq RNA:NM_001105530, RefSeq RNA:NM_006367, UCSC Genome Browser:NM_006367, UniProtKB:Q01518 No chr1 40505912 40538321 40040070 40072649 +PA134989437 10486 HGNC:20039 ENSG00000112186 cyclase associated actin cytoskeleton regulatory protein 2 CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) Yes Yes Comparative Toxicogenomics Database:10486, Ensembl:ENSG00000112186, GeneCard:CAP2, HGNC:HGNC:20039, HumanCyc Gene:HS03530, ModBase:P40123, NCBI Gene:10486, RefSeq DNA:NT_007592, RefSeq Protein:NP_006357, RefSeq RNA:NM_006366, UniProtKB:P40123, UniProtKB:Q5JPJ8 No chr6 17393447 17558023 17393216 17557792 +PA134896918 353163 HGNC:20142 ENSG00000259151 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 CAP2P1 Yes No Ensembl:ENSG00000259151, GeneCard:CAP2P1, HGNC:HGNC:20142, NCBI Gene:353163, RefSeq DNA:NG_002772, RefSeq DNA:NT_026437 No chr14 89755862 89758075 89289518 89291731 +PA26056 822 HGNC:1474 ENSG00000042493 capping actin protein, gelsolin like CAPG """capping protein (actin filament), gelsolin-like"", ""macrophage capping protein""" AFCP, MCP Yes Yes Comparative Toxicogenomics Database:822, Ensembl:ENSG00000042493, GenAtlas:CAPG, GeneCard:CAPG, HGNC:HGNC:1474, HumanCyc Gene:HS00561, ModBase:P40121, NCBI Gene:822, OMIM:153615, RefSeq DNA:NT_022184, RefSeq Protein:NP_001738, RefSeq RNA:NM_001747, UCSC Genome Browser:NM_001747, UniProtKB:P40121 No chr2 85621871 85641197 85394748 85418467 +PA26057 823 HGNC:1476 ENSG00000014216 calpain 1 CAPN1 calpain 1, (mu/I) large subunit CANP, CANPL1, muCANP, muCL Yes No Comparative Toxicogenomics Database:823, Ensembl:ENSG00000014216, GenAtlas:CAPN1, GeneCard:CAPN1, HGNC:HGNC:1476, HumanCyc Gene:HS00359, ModBase:P07384, NCBI Gene:823, OMIM:114220, RefSeq DNA:NT_167190, RefSeq Protein:NP_001185797, RefSeq Protein:NP_001185798, RefSeq Protein:NP_005177, RefSeq RNA:NM_001198868, RefSeq RNA:NM_001198869, RefSeq RNA:NM_005186, RefSeq RNA:NR_040008, UCSC Genome Browser:NM_005186, UniProtKB:P07384 No chr11 64948686 64979477 65181215 65212006 +PA26058 11132 HGNC:1477 ENSG00000142330 calpain 10 CAPN10 Yes Yes Comparative Toxicogenomics Database:11132, Ensembl:ENSG00000142330, GenAtlas:CAPN10, GeneCard:CAPN10, HGNC:HGNC:1477, HumanCyc Gene:HS06919, ModBase:Q9HC91, NCBI Gene:11132, OMIM:601283, OMIM:605286, RefSeq DNA:NG_011558, RefSeq DNA:NT_005416, RefSeq Protein:NP_067074, RefSeq Protein:NP_075571, RefSeq Protein:NP_075573, RefSeq Protein:NP_075577, RefSeq RNA:NM_021251, RefSeq RNA:NM_023083, RefSeq RNA:NM_023085, RefSeq RNA:NM_023089, UCSC Genome Browser:NM_021251, UniProtKB:Q9HC96 No chr2 241526133 241538526 240586716 240599109 +PA26059 11131 HGNC:1478 ENSG00000137225 calpain 11 CAPN11 Yes No Comparative Toxicogenomics Database:11131, Ensembl:ENSG00000137225, GenAtlas:CAPN11, GeneCard:CAPN11, HGNC:HGNC:1478, HumanCyc Gene:HS06295, ModBase:Q9UMQ6, NCBI Gene:11131, OMIM:604822, RefSeq DNA:NT_007592, RefSeq Protein:NP_008989, RefSeq RNA:NM_007058, UCSC Genome Browser:NM_007058, UniProtKB:Q9UMQ6 No chr6 44126548 44152139 44158811 44184402 +PA134863447 147968 HGNC:13249 ENSG00000182472 calpain 12 CAPN12 Yes No Comparative Toxicogenomics Database:147968, Ensembl:ENSG00000182472, GeneCard:CAPN12, HGNC:HGNC:13249, ModBase:Q6ZSI9, NCBI Gene:147968, OMIM:608839, RefSeq DNA:NT_011109, RefSeq Protein:NP_653292, RefSeq RNA:NM_144691, UniProtKB:Q6ZSI9 No chr19 39220832 39235114 38730124 38744474 +PA134931170 92291 HGNC:16663 ENSG00000162949 calpain 13 CAPN13 FLJ23523 Yes No Ensembl:ENSG00000162949, GeneCard:CAPN13, HGNC:HGNC:16663, HumanCyc Gene:HS08763, ModBase:Q6MZZ7, NCBI Gene:92291, OMIM:610228, RefSeq DNA:NT_022184, RefSeq Protein:NP_653176, RefSeq RNA:NM_144575, UniProtKB:Q6MZZ7 No chr2 30945637 31030383 30610382 30809527 +PA134888839 440854 HGNC:16664 ENSG00000214711 calpain 14 CAPN14 Yes No Ensembl:ENSG00000214711, GeneCard:CAPN14, HGNC:HGNC:16664, NCBI Gene:440854, OMIM:610229, RefSeq DNA:NT_022184, RefSeq Protein:NP_001138594, RefSeq RNA:NM_001145122, UniProtKB:A8MX76, UniProtKB:B7Z467 No chr2 31395922 31456724 31173056 31233957 +PA36019 6650 HGNC:11182 ENSG00000103326 calpain 15 CAPN15 small optic lobes homolog (Drosophila) CAPN15, SOLH Yes No Ensembl:ENSG00000103326, GenAtlas:SOLH, GeneCard:SOLH, HGNC:HGNC:11182, HumanCyc Gene:HS02490, ModBase:O75808, NCBI Gene:6650, OMIM:603267, RefSeq DNA:NT_010393, RefSeq Protein:NP_005623, RefSeq RNA:NM_005632, UCSC Genome Browser:NM_005632, UniProtKB:O75808 No chr16 577816 604636 527795 554636 +PA26060 824 HGNC:1479 ENSG00000162909 calpain 2 CAPN2 calpain 2, (m/II) large subunit CANPL2, CANPml, mCANP Yes No Comparative Toxicogenomics Database:824, Ensembl:ENSG00000162909, GenAtlas:CAPN2, GeneCard:CAPN2, HGNC:HGNC:1479, HumanCyc Gene:HS08758, ModBase:P17655, NCBI Gene:824, OMIM:114230, RefSeq DNA:NT_167186, RefSeq Protein:NP_001139540, RefSeq Protein:NP_001739, RefSeq RNA:NM_001146068, RefSeq RNA:NM_001748, UCSC Genome Browser:NM_001748, UniProtKB:B4DN77, UniProtKB:B7ZA96, UniProtKB:P17655, UniProtKB:Q59EF6 No chr1 223889295 223963720 223701593 223776018 +PA26061 825 HGNC:1480 ENSG00000092529 calpain 3 CAPN3 calpain 3, (p94) CANP3, LGMD2, LGMD2A, nCL-1, p94 Yes No Comparative Toxicogenomics Database:825, Ensembl:ENSG00000092529, GenAtlas:CAPN3, GeneCard:CAPN3, HGNC:HGNC:1480, HumanCyc Gene:HS01773, ModBase:P20807, NCBI Gene:825, OMIM:114240, OMIM:253600, RefSeq DNA:NG_008660, RefSeq DNA:NT_010194, RefSeq Protein:NP_000061, RefSeq Protein:NP_077320, RefSeq Protein:NP_775110, RefSeq Protein:NP_775111, RefSeq Protein:NP_775112, RefSeq Protein:NP_775113, RefSeq Protein:NP_997629, RefSeq Protein:NP_997630, RefSeq Protein:NP_997632, RefSeq RNA:NM_000070, RefSeq RNA:NM_024344, RefSeq RNA:NM_173087, RefSeq RNA:NM_173088, RefSeq RNA:NM_173089, RefSeq RNA:NM_173090, RefSeq RNA:NM_212464, RefSeq RNA:NM_212465, RefSeq RNA:NM_212467, RefSeq RNA:NR_027911, RefSeq RNA:NR_027912, UCSC Genome Browser:NM_000070, UniProtKB:P20807, UniProtKB:Q762C8, UniProtKB:Q9BQC8 No chr15 42646545 42704515 42359500 42412317 +PA26062 726 HGNC:1482 ENSG00000149260 calpain 5 CAPN5 ADNIV, HTRA3, VRNI, nCL-3 Yes No Comparative Toxicogenomics Database:726, Ensembl:ENSG00000149260, GenAtlas:CAPN5, GeneCard:CAPN5, HGNC:HGNC:1482, HumanCyc Gene:HS07597, ModBase:O15484, NCBI Gene:726, OMIM:602537, RefSeq DNA:NT_167190, RefSeq Protein:NP_004046, RefSeq RNA:NM_004055, UCSC Genome Browser:NM_004055, UniProtKB:O15484 No chr11 76777992 76837201 77066945 77126155 +PA26063 827 HGNC:1483 ENSG00000077274 calpain 6 CAPN6 CANPX, CAPNX, CalpM Yes No Comparative Toxicogenomics Database:827, Ensembl:ENSG00000077274, GenAtlas:CAPN6, GeneCard:CAPN6, HGNC:HGNC:1483, HumanCyc Gene:HS01239, ModBase:Q9Y6Q1, NCBI Gene:827, OMIM:300146, RefSeq DNA:NG_015962, RefSeq DNA:NT_011651, RefSeq Protein:NP_055104, RefSeq RNA:NM_014289, UCSC Genome Browser:NM_014289, UniProtKB:Q9Y6Q1 No chrX 110488327 110513774 111245099 111270546 +PA26064 23473 HGNC:1484 ENSG00000131375 calpain 7 CAPN7 calpain like protease, homolog of Aspergillus Nidulans PALB PalBH Yes No Comparative Toxicogenomics Database:23473, Ensembl:ENSG00000131375, GenAtlas:CAPN7, GeneCard:CAPN7, HGNC:HGNC:1484, HumanCyc Gene:HS05517, ModBase:Q9Y6W3, NCBI Gene:23473, OMIM:606400, RefSeq DNA:NT_022517, RefSeq Protein:NP_055111, RefSeq RNA:NM_014296, UCSC Genome Browser:NM_014296, UniProtKB:Q7Z479, UniProtKB:Q9Y6W3 No chr3 15247733 15294423 15206226 15252916 +PA26065 388743 HGNC:1485 ENSG00000203697 calpain 8 CAPN8 nCL-2 Yes No Ensembl:ENSG00000203697, GenAtlas:CAPN8, GeneCard:CAPN8, HGNC:HGNC:1485, NCBI Gene:388743, RefSeq DNA:NT_167186, RefSeq Protein:NP_001137434, RefSeq RNA:NM_001143962 No chr1 223714972 223853436 223541609 223665734 +PA26066 10753 HGNC:1486 ENSG00000135773 calpain 9 CAPN9 novel calpain large subunit-4 GC36, nCL-4 Yes No Comparative Toxicogenomics Database:10753, Ensembl:ENSG00000135773, GenAtlas:CAPN9, GeneCard:CAPN9, HGNC:HGNC:1486, HumanCyc Gene:HS06061, ModBase:O14815, NCBI Gene:10753, OMIM:606401, RefSeq DNA:NT_167186, RefSeq Protein:NP_006606, RefSeq Protein:NP_057536, RefSeq RNA:NM_006615, RefSeq RNA:NM_016452, UCSC Genome Browser:NM_006615, UniProtKB:O14815, UniProtKB:Q6PIV8 No chr1 230883089 230937749 230747289 230803356 +PA26067 826 HGNC:1481 ENSG00000126247 calpain small subunit 1 CAPNS1 calpain, small subunit 1 30K, CANP, CANPS, CAPN4, CDPS Yes No Comparative Toxicogenomics Database:826, Ensembl:ENSG00000126247, GenAtlas:CAPNS1, GeneCard:CAPNS1, HGNC:HGNC:1481, HumanCyc Gene:HS05003, ModBase:P04632, NCBI Gene:826, OMIM:114170, RefSeq DNA:NT_011109, RefSeq Protein:NP_001003962, RefSeq Protein:NP_001740, RefSeq RNA:NM_001003962, RefSeq RNA:NM_001749, UCSC Genome Browser:NM_001749, UniProtKB:P04632 No chr19 36630918 36641255 36139926 36150353 +PA134873146 84290 HGNC:16371 ENSG00000256812 calpain small subunit 2 CAPNS2 calpain, small subunit 2 MGC12536, MGC14804 Yes No Ensembl:ENSG00000256812, GeneCard:CAPNS2, HGNC:HGNC:16371, ModBase:Q96L46, NCBI Gene:84290, RefSeq DNA:NT_010498, RefSeq Protein:NP_115706, RefSeq RNA:NM_032330, UniProtKB:Q96L46 No chr16 55600584 55601592 55566672 55567680 +PA30508 4076 HGNC:6743 ENSG00000135387 cell cycle associated protein 1 CAPRIN1 cytoplasmic activation/proliferation-associated protein-1 GPIAP1, M11S1, RNG105, caprin-1 Yes No Comparative Toxicogenomics Database:4076, Ensembl:ENSG00000135387, GenAtlas:GPIAP1, GeneCard:CAPRIN1, GeneCard:GPIAP1, HGNC:HGNC:6743, HumanCyc Gene:HS05993, NCBI Gene:4076, OMIM:601178, RefSeq DNA:NT_009237, RefSeq Protein:NP_005889, RefSeq Protein:NP_976240, RefSeq RNA:NM_005898, RefSeq RNA:NM_203364, UCSC Genome Browser:NM_005898, UniProtKB:Q14444 No chr11 34073230 34124157 34051617 34102610 +PA162381044 65981 HGNC:21259 ENSG00000110888 caprin family member 2 CAPRIN2 C1QDC1, EEG1, FLJ11391, FLJ22569, RNG140, caprin-2 Yes No Ensembl:ENSG00000110888, GeneCard:CAPRIN2, HGNC:HGNC:21259, HumanCyc Gene:HS12729, ModBase:Q9HAL4, NCBI Gene:65981, OMIM:610375, RefSeq DNA:NT_009714, RefSeq Protein:NP_001002259, RefSeq Protein:NP_001193785, RefSeq Protein:NP_076414, RefSeq Protein:NP_115532, RefSeq RNA:NM_001002259, RefSeq RNA:NM_001206856, RefSeq RNA:NM_023925, RefSeq RNA:NM_032156, RefSeq RNA:NR_038177, UniProtKB:Q6IMN6 No chr12 30862486 30907448 30709552 30754994 +PA26068 828 HGNC:1487 ENSG00000105519 calcyphosine CAPS calcyphosine 1, thyroid protein p24 CAPS1, MGC126562 Yes No Ensembl:ENSG00000105519, GenAtlas:CAPS, GeneCard:CAPS, HGNC:HGNC:1487, HumanCyc Gene:HS02756, ModBase:Q13938, NCBI Gene:828, OMIM:114212, RefSeq DNA:NT_011255, RefSeq Protein:NP_004049, RefSeq Protein:NP_542157, RefSeq RNA:NM_004058, RefSeq RNA:NM_080590, UCSC Genome Browser:NM_004058, UniProtKB:Q13938, UniProtKB:Q96ET4 No chr19 5913659 5916222 5913644 5916211 +PA38405 84698 HGNC:16471 ENSG00000180881 calcyphosine 2 CAPS2 Yes No Ensembl:ENSG00000180881, GenAtlas:CAPS2, GeneCard:CAPS2, HGNC:HGNC:16471, HumanCyc Gene:HS11542, ModBase:Q9BXY5, NCBI Gene:84698, OMIM:607724, RefSeq DNA:NT_029419, RefSeq Protein:NP_115995, RefSeq RNA:NM_032606, UCSC Genome Browser:NM_032606, UniProtKB:Q9BXY5 No chr12 75669759 75784681 75275979 75390941 +PA142672204 133690 HGNC:28375 ENSG00000152611 calcyphosine like CAPSL calcyphosine-like MGC26610 Yes No Comparative Toxicogenomics Database:133690, Ensembl:ENSG00000152611, GeneCard:CAPSL, HGNC:HGNC:28375, HumanCyc Gene:HS07840, ModBase:Q8WWF8, NCBI Gene:133690, RefSeq DNA:NT_006576, RefSeq Protein:NP_001036090, RefSeq Protein:NP_653248, RefSeq RNA:NM_001042625, RefSeq RNA:NM_144647, UniProtKB:Q8WWF8 No chr5 35904397 35938881 35904295 35938779 +PA26069 829 HGNC:1488 ENSG00000116489 capping actin protein of muscle Z-line subunit alpha 1 CAPZA1 capping protein (actin filament) muscle Z-line, alpha 1 CAPPA1 Yes Yes Comparative Toxicogenomics Database:829, Ensembl:ENSG00000116489, GenAtlas:CAPZA1, GeneCard:CAPZA1, HGNC:HGNC:1488, HumanCyc Gene:HS04016, ModBase:P52907, NCBI Gene:829, OMIM:601580, RefSeq DNA:NT_032977, RefSeq Protein:NP_006126, RefSeq RNA:NM_006135, UCSC Genome Browser:NM_006135, UniProtKB:P52907 No chr1 113162075 113214241 112619453 112671619 +PA26071 830 HGNC:1490 ENSG00000198898 capping actin protein of muscle Z-line subunit alpha 2 CAPZA2 """F-actin capping protein alpha-2 subunit"", ""capping protein (actin filament) muscle Z-line, alpha 2""" CAPPA2, CAPZ Yes No Ensembl:ENSG00000198898, GenAtlas:CAPZA2, GeneCard:CAPZA2, HGNC:HGNC:1490, ModBase:P47755, NCBI Gene:830, OMIM:601571, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_006127, RefSeq RNA:NM_006136, UCSC Genome Browser:NM_006136, UniProtKB:A4D0V4, UniProtKB:P47755 No chr7 116502533 116559315 116862478 116919261 +PA134990260 93661 HGNC:24205 ENSG00000177938 capping actin protein of muscle Z-line subunit alpha 3 CAPZA3 capping protein (actin filament) muscle Z-line, alpha 3 CAPPA3, Gsg3 Yes No Comparative Toxicogenomics Database:93661, Ensembl:ENSG00000177938, GeneCard:CAPZA3, HGNC:HGNC:24205, HumanCyc Gene:HS11231, ModBase:Q96KX2, NCBI Gene:93661, OMIM:608722, RefSeq DNA:NT_009714, RefSeq Protein:NP_201585, RefSeq RNA:NM_033328, UniProtKB:Q96KX2 No chr12 18891045 18892122 18738111 18739188 +PA26072 832 HGNC:1491 ENSG00000077549 capping actin protein of muscle Z-line subunit beta CAPZB """CapZ beta"", ""capping protein (actin filament) muscle Z-line, beta""" Yes No Comparative Toxicogenomics Database:832, Ensembl:ENSG00000077549, GenAtlas:CAPZB, GeneCard:CAPZB, HGNC:HGNC:1491, HumanCyc Gene:HS01251, NCBI Gene:832, OMIM:601572, RefSeq DNA:NT_004610, RefSeq Protein:NP_001193469, RefSeq Protein:NP_001193470, RefSeq Protein:NP_004921, RefSeq RNA:NM_001206540, RefSeq RNA:NM_001206541, RefSeq RNA:NM_004930, RefSeq RNA:NR_038125, UCSC Genome Browser:NM_004930, UniProtKB:P47756, UniProtKB:Q7L4N0 No chr1 19665267 19812066 19338773 19485641 +PA134927444 29775 HGNC:16422 ENSG00000100065 caspase recruitment domain family member 10 CARD10 caspase recruitment domain family, member 10 BIMP1, CARMA3 Yes No Comparative Toxicogenomics Database:29775, Ensembl:ENSG00000100065, GeneCard:CARD10, HGNC:HGNC:16422, HumanCyc Gene:HS01966, ModBase:Q9BWT7, NCBI Gene:29775, OMIM:607209, RefSeq DNA:NT_011520, RefSeq Protein:NP_055365, RefSeq RNA:NM_014550, UniProtKB:Q9BWT7 No chr22 37886400 37915543 37490362 37519203 +PA26073 84433 HGNC:16393 ENSG00000198286 caspase recruitment domain family member 11 CARD11 """bcl10-interacting maguk protein 3"", ""card-maguk protein 1"", ""caspase recruitment domain family, member 11""" BIMP3, CARMA1 Yes No Ensembl:ENSG00000198286, GenAtlas:CARD11, GeneCard:CARD11, HGNC:HGNC:16393, ModBase:Q9BXL7, NCBI Gene:84433, OMIM:607210, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_115791, RefSeq RNA:NM_032415, UCSC Genome Browser:NM_032415, UniProtKB:Q8TES3, UniProtKB:Q9BXL7 No chr7 2945709 3083579 2906075 3043945 +PA134959119 79092 HGNC:16446 ENSG00000141527 caspase recruitment domain family member 14 CARD14 caspase recruitment domain family, member 14 BIMP2, CARMA2, PSORS2 Yes No Comparative Toxicogenomics Database:79092, Ensembl:ENSG00000141527, GeneCard:CARD14, HGNC:HGNC:16446, HumanCyc Gene:HS06844, ModBase:Q9BXL6, NCBI Gene:79092, OMIM:607211, RefSeq DNA:NT_010783, RefSeq Protein:NP_077015, RefSeq Protein:NP_438170, RefSeq RNA:NM_024110, RefSeq RNA:NM_052819, UniProtKB:Q9BXL6 No chr17 78143791 78183130 80169992 80209331 +PA164717628 114769 HGNC:33701 ENSG00000204397 caspase recruitment domain family member 16 CARD16 caspase recruitment domain family, member 16 COP, COP1, LLID-114769, PSEUDO-ICE Yes Yes Ensembl:ENSG00000204397, GeneCard:CARD16, HGNC:HGNC:33701, ModBase:Q5EG05, NCBI Gene:114769, RefSeq DNA:NT_033899, RefSeq Protein:NP_001017534, RefSeq Protein:NP_443121, RefSeq RNA:NM_001017534, RefSeq RNA:NM_052889, UniProtKB:Q5EG05 No chr11 104912053 104916051 105040218 105045416 +PA164717641 440068 HGNC:33827 ENSG00000255221 caspase recruitment domain family member 17 CARD17 """Inhibitory CARD"", ""caspase recruitment domain family, member 17""" INCA Yes No Ensembl:ENSG00000255221, GeneCard:CARD17, HGNC:HGNC:33827, ModBase:Q5XLA6, NCBI Gene:440068, OMIM:609490, RefSeq DNA:NT_033899, RefSeq Protein:NP_001007233, RefSeq RNA:NM_001007232, UniProtKB:Q5XLA6 No chr11 104963196 104972158 105092469 105101487 +PA164717642 59082 HGNC:28861 ENSG00000255501 caspase recruitment domain family member 18 CARD18 caspase recruitment domain family, member 18 ICEBERG, UNQ5804, pseudo-ICE Yes No Ensembl:ENSG00000255501, GeneCard:CARD18, HGNC:HGNC:28861, HumanCyc Gene:HS04196, ModBase:P57730, NCBI Gene:59082, OMIM:605354, RefSeq DNA:NT_033899, RefSeq Protein:NP_067546, RefSeq RNA:NM_021571, UniProtKB:P57730 No chr11 105008448 105010461 105137721 105139734 +PA134909664 84270 HGNC:28148 ENSG00000165233 caspase recruitment domain family member 19 CARD19 Bcl10-interacting protein with CARD, chromosome 9 open reading frame 89 BinCARD, C9orf89, MGC11115, bA370F5.1 Yes No Ensembl:ENSG00000165233, GeneCard:C9orf89, HGNC:HGNC:28148, HumanCyc Gene:HS15304, NCBI Gene:84270, RefSeq DNA:NT_008470, RefSeq Protein:NP_115686, RefSeq RNA:NM_032310, UniProtKB:Q96LW7 No chr9 95858450 95875565 93096123 93113295 +PA26076 84674 HGNC:16394 ENSG00000132357 caspase recruitment domain family member 6 CARD6 caspase recruitment domain family, member 6 CINCIN1 Yes No Ensembl:ENSG00000132357, GenAtlas:CARD6, GeneCard:CARD6, HGNC:HGNC:16394, HumanCyc Gene:HS05624, ModBase:Q9BX69, NCBI Gene:84674, OMIM:609986, RefSeq DNA:NT_006576, RefSeq Protein:NP_115976, RefSeq RNA:NM_032587, UCSC Genome Browser:NM_032587, UniProtKB:Q9BX69 No chr5 40841410 40855456 40841190 40855354 +PA134916154 22900 HGNC:17057 ENSG00000105483 caspase recruitment domain family member 8 CARD8 caspase recruitment domain family, member 8 CARDINAL, Dakar, KIAA0955, NDPP, TUCAN Yes Yes Comparative Toxicogenomics Database:22900, Ensembl:ENSG00000105483, GeneCard:CARD8, HGNC:HGNC:17057, HumanCyc Gene:HS02746, ModBase:Q9Y2G2, NCBI Gene:22900, OMIM:609051, RefSeq DNA:NT_011109, RefSeq Protein:NP_001171829, RefSeq Protein:NP_001171830, RefSeq Protein:NP_001171831, RefSeq Protein:NP_001171832, RefSeq Protein:NP_001171833, RefSeq Protein:NP_055774, RefSeq RNA:NM_001184900, RefSeq RNA:NM_001184901, RefSeq RNA:NM_001184902, RefSeq RNA:NM_001184903, RefSeq RNA:NM_001184904, RefSeq RNA:NM_014959, RefSeq RNA:NR_033678, RefSeq RNA:NR_033679, RefSeq RNA:NR_033680, UniProtKB:Q9Y2G2 No chr19 48711343 48759203 48203148 48256269 +PA26077 64170 HGNC:16391 ENSG00000187796 caspase recruitment domain family member 9 CARD9 caspase recruitment domain family, member 9 Yes No Ensembl:ENSG00000187796, GenAtlas:CARD9, GeneCard:CARD9, HGNC:HGNC:16391, ModBase:Q9H257, NCBI Gene:64170, OMIM:212050, OMIM:607212, RefSeq DNA:NG_021197, RefSeq DNA:NT_024000, RefSeq Protein:NP_434700, RefSeq Protein:NP_434701, RefSeq RNA:NM_052813, RefSeq RNA:NM_052814, UCSC Genome Browser:NM_022352, UniProtKB:Q5SXM5, UniProtKB:Q9H257 No chr9 139258408 139268133 136363956 136373681 +PA24748 79800 HGNC:14435 ENSG00000138380 calcium responsive transcription factor CARF """amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"", ""calcium-response factor""" ALS2CR8, CaRF, FLJ21579, NYD-SP24 Yes No Ensembl:ENSG00000138380, GenAtlas:ALS2CR8, GeneCard:ALS2CR8, HGNC:HGNC:14435, HumanCyc Gene:HS13722, ModBase:Q8N187, NCBI Gene:79800, OMIM:607586, RefSeq DNA:NT_005403, RefSeq Protein:NP_001098056, RefSeq Protein:NP_079020, RefSeq RNA:NM_001104586, RefSeq RNA:NM_024744, UCSC Genome Browser:NM_024744, UniProtKB:Q8N187 No chr2 203776978 203851060 202912218 202987856 +PA38440 23589 HGNC:17150 ENSG00000153048 calcium regulated heat stable protein 1 CARHSP1 calcium regulated heat stable protein 1, 24kDa CRHSP-24, CSDC1 Yes No Comparative Toxicogenomics Database:23589, Ensembl:ENSG00000153048, GenAtlas:CARHSP1, GeneCard:CARHSP1, HGNC:HGNC:17150, HumanCyc Gene:HS07877, ModBase:Q9Y2V2, NCBI Gene:23589, RefSeq DNA:NT_010393, RefSeq Protein:NP_001035941, RefSeq Protein:NP_055131, RefSeq RNA:NM_001042476, RefSeq RNA:NM_014316, UCSC Genome Browser:NM_014316, UniProtKB:Q9Y2V2 No chr16 8946799 8962869 8852942 8869012 +PA134959553 10498 HGNC:23393 ENSG00000142453 coactivator associated arginine methyltransferase 1 CARM1 coactivator-associated arginine methyltransferase 1 PRMT4 Yes No Ensembl:ENSG00000142453, GeneCard:CARM1, HGNC:HGNC:23393, ModBase:Q86X55, NCBI Gene:10498, OMIM:603934, RefSeq DNA:NT_011295, RefSeq Protein:NP_954592, RefSeq RNA:NM_199141, UniProtKB:A6NN38 No chr19 10982253 11033453 10871577 10923078 +PA134969007 100130873 HGNC:23392 ENSG00000227835 coactivator-associated arginine methyltransferase 1 pseudogene 1 CARM1P1 Yes No Ensembl:ENSG00000227835, GeneCard:CARM1P1, HGNC:HGNC:23392, NCBI Gene:100130873, RefSeq DNA:NG_009935, RefSeq DNA:NT_008413 No chr9 2943562 3053404 2943562 3053404 +PA162394368 55604 HGNC:21581 ENSG00000079691 capping protein regulator and myosin 1 linker 1 CARMIL1 """capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"", ""leucine rich repeat containing 16A""" CARMIL, CARMIL1, FLJ20048, LRRC16, LRRC16A, dJ501N12.1 Yes No Ensembl:ENSG00000079691, GeneCard:LRRC16A, HGNC:HGNC:21581, HumanCyc Gene:HS12256, ModBase:Q5VZK9, NCBI Gene:55604, OMIM:609593, RefSeq DNA:NT_007592, RefSeq Protein:NP_001167448, RefSeq Protein:NP_060110, RefSeq RNA:NM_001173977, RefSeq RNA:NM_017640, UniProtKB:Q5VZK9 No chr6 25279656 25620758 25279428 25620530 +PA162401371 146206 HGNC:27089 ENSG00000159753 capping protein regulator and myosin 1 linker 2 CARMIL2 """RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing"", ""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C""" CARMIL2, LRRC16C, RLTPR Yes No Ensembl:ENSG00000159753, GeneCard:RLTPR, HGNC:HGNC:27089, ModBase:Q6F5E8, NCBI Gene:146206, OMIM:610859, RefSeq DNA:NT_010498, RefSeq Protein:NP_001013860, RefSeq RNA:NM_001013838, UniProtKB:Q6F5E8 No chr16 67679030 67691472 67645004 67657569 +PA162394445 90668 HGNC:20272 ENSG00000186648 capping protein regulator and myosin 1 linker 3 CARMIL3 leucine rich repeat containing 16B BC008134, C14orf121, CARMIL3, LRRC16B, crml-1 Yes No Ensembl:ENSG00000186648, GeneCard:LRRC16B, HGNC:HGNC:20272, ModBase:Q8ND23, NCBI Gene:90668, RefSeq DNA:NT_026437, RefSeq Protein:NP_612369, RefSeq RNA:NM_138360, UniProtKB:Q8ND23 No chr14 24521206 24538937 24051997 24069729 +PA134929393 138199 HGNC:23435 ENSG00000156017 carnosine N-methyltransferase 1 CARNMT1 chromosome 9 open reading frame 41 C9orf41, FLJ25795 Yes No Ensembl:ENSG00000156017, GeneCard:C9orf41, HGNC:HGNC:23435, HumanCyc Gene:HS14597, ModBase:Q8N4J0, NCBI Gene:138199, RefSeq DNA:NT_008470, RefSeq Protein:NP_689633, RefSeq RNA:NM_152420, UniProtKB:Q8N4J0 No chr9 77595936 77643326 74980794 75028456 +PA165543288 57571 HGNC:29268 ENSG00000172508 carnosine synthase 1 CARNS1 ATPGD1, KIAA1394 Yes No Ensembl:ENSG00000172508, GeneCard:CARNS1, HGNC:HGNC:29268, NCBI Gene:57571, OMIM:613368, RefSeq DNA:NT_033903, RefSeq DNA:NT_167190, RefSeq Protein:NP_001159694, RefSeq Protein:NP_065862, RefSeq RNA:NM_001166222, RefSeq RNA:NM_020811, UniProtKB:A5YM72, UniProtKB:B4DFC6 No chr11 67183149 67193078 67415678 67425607 +PA26079 833 HGNC:1493 cysteinyl-tRNA synthetase 1 CARS1 """cysteine tRNA ligase 1, cytoplasmic"", ""cysteinyl-tRNA synthetase""" CARS, CARS1 Yes No Comparative Toxicogenomics Database:833, GenAtlas:CARS, GeneCard:CARS, HGNC:HGNC:1493, HumanCyc Gene:HS03321, ModBase:P49589, NCBI Gene:833, OMIM:123859, RefSeq DNA:NT_009237, RefSeq Protein:NP_001014437, RefSeq Protein:NP_001014438, RefSeq Protein:NP_001181926, RefSeq Protein:NP_001742, RefSeq Protein:NP_644802, RefSeq RNA:NM_001014437, RefSeq RNA:NM_001014438, RefSeq RNA:NM_001194997, RefSeq RNA:NM_001751, RefSeq RNA:NM_139273, RefSeq RNA:NR_036542, UCSC Genome Browser:NM_001751, UniProtKB:A8MVQ3, UniProtKB:P49589, UniProtKB:Q5HYE4 No chr11 3022152 3078681 3000922 3057451 +PA162381083 79587 HGNC:25695 ENSG00000134905 cysteinyl-tRNA synthetase 2, mitochondrial CARS2 """cysteine tRNA ligase 2, mitochondrial (putative)"", ""cysteinyl-tRNA synthetase 2, mitochondrial (putative)""" FLJ12118 Yes No Ensembl:ENSG00000134905, GeneCard:CARS2, HGNC:HGNC:25695, HumanCyc Gene:HS05929, ModBase:Q9HA77, NCBI Gene:79587, OMIM:612800, RefSeq DNA:NT_009952, RefSeq Protein:NP_078813, RefSeq RNA:NM_024537, UniProtKB:Q9HA77 No chr13 111293757 111358480 110641410 110713527 +PA162381084 9607 HGNC:24323 ENSG00000164326 CART prepropeptide CARTPT cocaine and amphetamine regulated transcript CART Yes Yes Comparative Toxicogenomics Database:9607, Ensembl:ENSG00000164326, GeneCard:CARTPT, HGNC:HGNC:24323, HumanCyc Gene:HS09061, NCBI Gene:9607, OMIM:601665, OMIM:602606, RefSeq DNA:NG_015988, RefSeq DNA:NT_006713, RefSeq DNA:NT_113802, RefSeq Protein:NP_004282, RefSeq RNA:NM_004291, UCSC Genome Browser:NM_004291, UniProtKB:Q16568 No chr5 71014990 71016875 71719163 71721048 +PA134938480 255082 HGNC:22933 ENSG00000177640 cancer susceptibility candidate 2 (non-protein coding) CASC2 Yes No Ensembl:ENSG00000177640, GeneCard:CASC2, HGNC:HGNC:22933, NCBI Gene:255082, OMIM:608598, RefSeq DNA:NT_030059, RefSeq RNA:NR_026939, RefSeq RNA:NR_026940, RefSeq RNA:NR_026941 No chr10 119806332 119969665 118046821 118210153 +PA134948596 22794 HGNC:17040 ENSG00000108349 CASC3 exon junction complex subunit CASC3 """CASC3, exon junction complex subunit"", ""cancer susceptibility candidate 3""" BTZ, MLN51 Yes No Ensembl:ENSG00000108349, GeneCard:CASC3, HGNC:HGNC:17040, HumanCyc Gene:HS03090, ModBase:O15234, NCBI Gene:22794, OMIM:606504, RefSeq DNA:NT_010783, RefSeq Protein:NP_031385, RefSeq RNA:NM_007359, UniProtKB:O15234 No chr17 38296507 38328431 40140254 40172178 +PA143485408 64921 HGNC:16014 ENSG00000127995 CAS1 domain containing 1 CASD1 Capsule synthesis 1, chromosome 7 open reading frame 12 C7orf12, Cas1, FLJ21213, FLJ21879 Yes No Comparative Toxicogenomics Database:64921, Ensembl:ENSG00000127995, GeneCard:CASD1, HGNC:HGNC:16014, HumanCyc Gene:HS05149, ModBase:Q96PB1, NCBI Gene:64921, OMIM:611686, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_075051, RefSeq RNA:NM_022900, UniProtKB:Q8WZ77, UniProtKB:Q96PB1 No chr7 94138838 94186331 94509858 94633465 +PA26081 8573 HGNC:1497 ENSG00000147044 calcium/calmodulin dependent serine protein kinase CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) CAGH39, FGS4, LIN2, TNRC8 Yes No Comparative Toxicogenomics Database:8573, Ensembl:ENSG00000147044, GenAtlas:CASK, GeneCard:CASK, HGNC:HGNC:1497, HumanCyc Gene:HS07384, ModBase:Q5VT19, NCBI Gene:8573, OMIM:300172, OMIM:300422, OMIM:300749, RefSeq DNA:NG_016754, RefSeq DNA:NT_079573, RefSeq Protein:NP_001119526, RefSeq Protein:NP_001119527, RefSeq Protein:NP_003679, RefSeq RNA:NM_001126054, RefSeq RNA:NM_001126055, RefSeq RNA:NM_003688, UCSC Genome Browser:NM_003688, UniProtKB:O14936 No chrX 41374187 41782415 41514934 41923525 +PA134878267 57524 HGNC:20879 ENSG00000167971 CASK interacting protein 1 CASKIN1 ANKS5A, KIAA1306 Yes No Ensembl:ENSG00000167971, GeneCard:CASKIN1, HGNC:HGNC:20879, ModBase:Q8WXD9, NCBI Gene:57524, OMIM:612184, RefSeq DNA:NT_010393, RefSeq Protein:NP_065815, RefSeq RNA:NM_020764, UniProtKB:Q8WXD9 No chr16 2227184 2246479 2177183 2196464 +PA134944093 57513 HGNC:18200 ENSG00000177303 CASK interacting protein 2 CASKIN2 ANKS5B, FLJ21609, KIAA1139 Yes No Comparative Toxicogenomics Database:57513, Ensembl:ENSG00000177303, GeneCard:CASKIN2, HGNC:HGNC:18200, HumanCyc Gene:HS16826, ModBase:Q8WXE0, NCBI Gene:57513, OMIM:612185, RefSeq DNA:NT_010783, RefSeq Protein:NP_001136115, RefSeq Protein:NP_065804, RefSeq RNA:NM_001142643, RefSeq RNA:NM_020753, UniProtKB:B4DTT3, UniProtKB:Q8WXE0 No chr17 73496341 73511664 75500260 75515583 +PA26082 10029 HGNC:1498 ENSG00000234059 calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 1 CASKP1 Yes No Ensembl:ENSG00000234059, GenAtlas:CASKP, GeneCard:CASKP1, HGNC:HGNC:1498, NCBI Gene:10029, RefSeq DNA:NG_002805, RefSeq DNA:NT_011875 No chrY 15041766 15060093 12929856 12948185 +PA26083 834 HGNC:1499 ENSG00000137752 caspase 1 CASP1 """caspase 1, apoptosis-related cysteine peptidase"", ""caspase-1"", ""interleukin 1, beta, convertase""" ICE, IL1BC Yes Yes Comparative Toxicogenomics Database:834, Ensembl:ENSG00000137752, GenAtlas:CASP1, GeneCard:CASP1, HGNC:HGNC:1499, HumanCyc Gene:HS06387, ModBase:P29466, NCBI Gene:834, OMIM:147678, RefSeq DNA:NT_033899, RefSeq Protein:NP_001214, RefSeq Protein:NP_150634, RefSeq Protein:NP_150635, RefSeq Protein:NP_150636, RefSeq Protein:NP_150637, RefSeq RNA:NM_001223, RefSeq RNA:NM_033292, RefSeq RNA:NM_033293, RefSeq RNA:NM_033294, RefSeq RNA:NM_033295, UCSC Genome Browser:NM_001223, UniProtKB:P29466 No chr11 104896235 104905884 105025508 105035591 +PA26084 843 HGNC:1500 ENSG00000003400 caspase 10 CASP10 """FAS-associated death domain protein interleukin-1B-converting enzyme 2"", ""caspase 10, apoptosis-related cysteine peptidase""" FLICE-2, MCH4 Yes No Comparative Toxicogenomics Database:843, Ensembl:ENSG00000003400, GenAtlas:CASP10, GeneCard:CASP10, HGNC:HGNC:1500, HumanCyc Gene:HS00093, ModBase:Q92851, NCBI Gene:843, OMIM:137215, OMIM:601762, OMIM:603909, OMIM:605027, RefSeq DNA:NG_007265, RefSeq DNA:NT_005403, RefSeq Protein:NP_001193453, RefSeq Protein:NP_001193471, RefSeq Protein:NP_001221, RefSeq Protein:NP_116756, RefSeq Protein:NP_116758, RefSeq Protein:NP_116759, RefSeq RNA:NM_001206524, RefSeq RNA:NM_001206542, RefSeq RNA:NM_001230, RefSeq RNA:NM_032974, RefSeq RNA:NM_032976, RefSeq RNA:NM_032977, UCSC Genome Browser:NM_001230, UniProtKB:Q92851 No chr2 202047621 202094129 201182881 201229406 +PA38776 100506742 HGNC:19004 ENSG00000204403 caspase 12 (gene/pseudogene) CASP12 CASP12P1 Yes No Comparative Toxicogenomics Database:120329, Ensembl:ENSG00000204403, GenAtlas:CASP12, GeneCard:CASP12, HGNC:HGNC:19004, ModBase:Q6UXS9, NCBI Gene:100506742, OMIM:608633, RefSeq DNA:NT_033899, RefSeq Protein:NP_001177945, RefSeq RNA:NM_001191016, RefSeq RNA:NR_000035, RefSeq RNA:NR_034061, RefSeq RNA:NR_034063, RefSeq RNA:NR_034064, RefSeq RNA:NR_034065, RefSeq RNA:NR_034066, RefSeq RNA:NR_034067, RefSeq RNA:NR_034068, RefSeq RNA:NR_034070, RefSeq RNA:NR_034071 No chr11 104756445 104769397 104885718 104898670 +PA26085 23581 HGNC:1502 ENSG00000105141 caspase 14 CASP14 """apoptosis-related cysteine protease"", ""caspase 14, apoptosis-related cysteine peptidase"", ""mini-ICE""" MGC119078, MGC119079, MICE, caspase-14 Yes No Comparative Toxicogenomics Database:23581, Ensembl:ENSG00000105141, GenAtlas:CASP14, GeneCard:CASP14, HGNC:HGNC:1502, HumanCyc Gene:HS02680, ModBase:P31944, NCBI Gene:23581, OMIM:605848, RefSeq DNA:NT_011295, RefSeq Protein:NP_036246, RefSeq RNA:NM_012114, UCSC Genome Browser:NM_012114, UniProtKB:B2CIS9, UniProtKB:P31944 No chr19 15160291 15169104 15049480 15058293 +PA26086 835 HGNC:1503 ENSG00000106144 caspase 2 CASP2 """caspase 2, apoptosis-related cysteine peptidase"", ""protein phosphatase 1, regulatory subunit 57""" ICH1, MGC2181, NEDD2, PPP1R57 Yes No Comparative Toxicogenomics Database:835, Ensembl:ENSG00000106144, GenAtlas:CASP2, GeneCard:CASP2, HGNC:HGNC:1503, HumanCyc Gene:HS02869, ModBase:P42575, NCBI Gene:835, OMIM:600639, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001215, RefSeq Protein:NP_116764, RefSeq Protein:NP_116765, RefSeq RNA:NM_001224, RefSeq RNA:NM_032982, RefSeq RNA:NM_032983, UCSC Genome Browser:NM_001224, UniProtKB:P42575, UniProtKB:Q9BZL0 No chr7 142985308 143004789 143288215 143307696 +PA26087 836 HGNC:1504 ENSG00000164305 caspase 3 CASP3 caspase 3, apoptosis-related cysteine peptidase CPP32, CPP32B, Yama, apopain Yes Yes Comparative Toxicogenomics Database:836, Ensembl:ENSG00000164305, GenAtlas:CASP3, GeneCard:CASP3, HGNC:HGNC:1504, HumanCyc Gene:HS09058, ModBase:P42574, NCBI Gene:836, OMIM:600636, RefSeq DNA:NT_016354, RefSeq Protein:NP_004337, RefSeq Protein:NP_116786, RefSeq RNA:NM_004346, RefSeq RNA:NM_032991, UCSC Genome Browser:NM_004346, UniProtKB:P42574 No chr4 185548850 185570629 184627696 184649475 +PA26088 837 HGNC:1505 ENSG00000196954 caspase 4 CASP4 caspase 4, apoptosis-related cysteine peptidase ICE(rel)II, ICH-2, TX Yes No Comparative Toxicogenomics Database:837, Ensembl:ENSG00000196954, GenAtlas:CASP4, GeneCard:CASP4, HGNC:HGNC:1505, HumanCyc Gene:HS06388, ModBase:P49662, NCBI Gene:837, OMIM:602664, RefSeq DNA:NT_033899, RefSeq Protein:NP_001216, RefSeq Protein:NP_150649, RefSeq RNA:NM_001225, RefSeq RNA:NM_033306, UCSC Genome Browser:NM_001225, UniProtKB:A2NHL8, UniProtKB:A2NHM0, UniProtKB:P49662 No chr11 104813594 104839325 104942866 104968598 +PA26089 838 HGNC:1506 ENSG00000137757 caspase 5 CASP5 caspase 5, apoptosis-related cysteine peptidase ICE(rel)III Yes Yes Comparative Toxicogenomics Database:838, Ensembl:ENSG00000137757, GenAtlas:CASP5, GeneCard:CASP5, HGNC:HGNC:1506, HumanCyc Gene:HS06389, ModBase:P51878, NCBI Gene:838, OMIM:602665, RefSeq DNA:NT_033899, RefSeq Protein:NP_001129581, RefSeq Protein:NP_001129582, RefSeq Protein:NP_001129583, RefSeq Protein:NP_001129584, RefSeq Protein:NP_004338, RefSeq RNA:NM_001136109, RefSeq RNA:NM_001136110, RefSeq RNA:NM_001136111, RefSeq RNA:NM_001136112, RefSeq RNA:NM_004347, RefSeq RNA:NR_024239, RefSeq RNA:NR_036562, UCSC Genome Browser:NM_004347, UniProtKB:P51878 No chr11 104864967 104893895 104994240 105023902 +PA26090 839 HGNC:1507 ENSG00000138794 caspase 6 CASP6 """caspase 6, apoptosis-related cysteine peptidase"", ""mammalian Ced-3 homologue 2""" CSP-6, MCH2, caspase-6 Yes No Comparative Toxicogenomics Database:839, Ensembl:ENSG00000138794, GenAtlas:CASP6, GeneCard:CASP6, HGNC:HGNC:1507, HumanCyc Gene:HS06561, ModBase:P55212, NCBI Gene:839, OMIM:601532, RefSeq DNA:NT_016354, RefSeq Protein:NP_001217, RefSeq Protein:NP_116787, RefSeq RNA:NM_001226, RefSeq RNA:NM_032992, UCSC Genome Browser:NM_001226, UniProtKB:P55212 No chr4 110609785 110629814 109688629 109703473 +PA26091 840 HGNC:1508 ENSG00000165806 caspase 7 CASP7 caspase 7, apoptosis-related cysteine peptidase CMH-1, ICE-LAP3, MCH3 Yes Yes Comparative Toxicogenomics Database:840, Ensembl:ENSG00000165806, GenAtlas:CASP7, GeneCard:CASP7, HGNC:HGNC:1508, HumanCyc Gene:HS09288, ModBase:P55210, NCBI Gene:840, OMIM:601761, RefSeq DNA:NT_030059, RefSeq Protein:NP_001218, RefSeq Protein:NP_203124, RefSeq Protein:NP_203125, RefSeq Protein:NP_203126, RefSeq RNA:NM_001227, RefSeq RNA:NM_033338, RefSeq RNA:NM_033339, RefSeq RNA:NM_033340, UCSC Genome Browser:NM_001227, UniProtKB:P55210 No chr10 115438921 115490668 113679162 113730909 +PA26092 841 HGNC:1509 ENSG00000064012 caspase 8 CASP8 caspase 8, apoptosis-related cysteine peptidase Casp-8, FLICE, MACH, MCH5 Yes Yes Comparative Toxicogenomics Database:841, Ensembl:ENSG00000064012, GenAtlas:CASP8, GeneCard:CASP8, HGNC:HGNC:1509, HumanCyc Gene:HS00790, ModBase:Q96T22, NCBI Gene:841, OMIM:114480, OMIM:114550, OMIM:211980, OMIM:601763, OMIM:607271, RefSeq DNA:NG_007497, RefSeq DNA:NT_005403, RefSeq Protein:NP_001073593, RefSeq Protein:NP_001073594, RefSeq Protein:NP_001219, RefSeq Protein:NP_203519, RefSeq Protein:NP_203520, RefSeq Protein:NP_203522, RefSeq RNA:NM_001080124, RefSeq RNA:NM_001080125, RefSeq RNA:NM_001228, RefSeq RNA:NM_033355, RefSeq RNA:NM_033356, RefSeq RNA:NM_033358, UCSC Genome Browser:NM_001228, UniProtKB:Q14790 No chr2 202098166 202152434 201233443 201287711 +PA26093 9994 HGNC:1510 ENSG00000118412 caspase 8 associated protein 2 CASP8AP2 FLICE-associated huge protein CED-4, FLASH, FLJ11208, KIAA1315, RIP25 Yes No Comparative Toxicogenomics Database:9994, Ensembl:ENSG00000118412, GenAtlas:CASP8AP2, GeneCard:CASP8AP2, HGNC:HGNC:1510, HumanCyc Gene:HS04217, ModBase:Q9UKL3, NCBI Gene:9994, OMIM:606880, RefSeq DNA:NT_007299, RefSeq Protein:NP_001131139, RefSeq Protein:NP_001131140, RefSeq Protein:NP_036247, RefSeq RNA:NM_001137667, RefSeq RNA:NM_001137668, RefSeq RNA:NM_012115, UCSC Genome Browser:NM_012115, UniProtKB:Q9UKL3 No chr6 90539619 90584155 89829900 89874436 +PA26094 842 HGNC:1511 ENSG00000132906 caspase 9 CASP9 """caspase 9, apoptosis-related cysteine peptidase"", ""protein phosphatase 1, regulatory subunit 56""" APAF-3, ICE-LAP6, MCH6, PPP1R56 Yes Yes Comparative Toxicogenomics Database:842, Ensembl:ENSG00000132906, GenAtlas:CASP9, GeneCard:CASP9, HGNC:HGNC:1511, HumanCyc Gene:HS05705, ModBase:P55211, NCBI Gene:842, OMIM:602234, RefSeq DNA:NT_004610, RefSeq Protein:NP_001220, RefSeq Protein:NP_127463, RefSeq RNA:NM_001229, RefSeq RNA:NM_032996, UCSC Genome Browser:NM_001229, UniProtKB:P55211 No chr1 15817896 15851407 15491401 15524912 +PA26095 844 HGNC:1512 ENSG00000143318 calsequestrin 1 CASQ1 """calmitine"", ""calsequestrin 1 (fast-twitch, skeletal muscle)"", ""calsequestrin 1, fast-twitch, skeletal muscle""" CASQ, CSQ1, PDIB1 Yes No Comparative Toxicogenomics Database:844, Ensembl:ENSG00000143318, GenAtlas:CASQ1, GeneCard:CASQ1, HGNC:HGNC:1512, HumanCyc Gene:HS07023, ModBase:P31415, NCBI Gene:844, OMIM:114250, RefSeq DNA:NT_004487, RefSeq Protein:NP_001222, RefSeq RNA:NM_001231, UCSC Genome Browser:NM_001231, UniProtKB:B1AKZ2, UniProtKB:P31415 No chr1 160160285 160171676 160190495 160201886 +PA26096 845 HGNC:1513 ENSG00000118729 calsequestrin 2 CASQ2 calsequestrin 2 (cardiac muscle) PDIB2 Yes No Comparative Toxicogenomics Database:845, Ensembl:ENSG00000118729, GenAtlas:CASQ2, GeneCard:CASQ2, HGNC:HGNC:1513, HumanCyc Gene:HS04246, ModBase:O14958, NCBI Gene:845, OMIM:114251, OMIM:604772, OMIM:611938, RefSeq DNA:NG_008802, RefSeq DNA:NT_032977, RefSeq Protein:NP_001223, RefSeq RNA:NM_001232, UCSC Genome Browser:NM_001232, UniProtKB:O14958 No chr1 116242624 116311426 115700003 115768805 +PA26097 846 HGNC:1514 ENSG00000036828 calcium sensing receptor CASR calcium-sensing receptor, severe neonatal hyperparathyroidism FHH, GPRC2A, HHC, HHC1, NSHPT Yes Yes Comparative Toxicogenomics Database:846, Ensembl:ENSG00000036828, GenAtlas:CASR, GeneCard:CASR, HGNC:HGNC:1514, HumanCyc Gene:HS00520, IUPHAR Receptor:54, ModBase:P41180, NCBI Gene:846, OMIM:145980, OMIM:146200, OMIM:239200, OMIM:601199, OMIM:612899, RefSeq DNA:NG_009058, RefSeq DNA:NT_005612, RefSeq Protein:NP_000379, RefSeq Protein:NP_001171536, RefSeq RNA:NM_000388, RefSeq RNA:NM_001178065, UCSC Genome Browser:NM_000388, UniProtKB:P41180 No chr3 121902530 122005350 122183683 122286503 +PA162381095 57091 HGNC:15878 ENSG00000087589 Cas scaffold protein family member 4 CASS4 Cas scaffolding protein family member 4, HEF-like protein, HEF1-Efs-p130Cas-like C20orf32, HEFL, HEPL Yes No Ensembl:ENSG00000087589, GeneCard:CASS4, HGNC:HGNC:15878, HumanCyc Gene:HS12300, ModBase:Q9NQ75, NCBI Gene:57091, RefSeq DNA:NT_011362, RefSeq Protein:NP_001157586, RefSeq Protein:NP_001157587, RefSeq Protein:NP_001157588, RefSeq Protein:NP_065089, RefSeq RNA:NM_001164114, RefSeq RNA:NM_001164115, RefSeq RNA:NM_001164116, RefSeq RNA:NM_020356, UniProtKB:Q9NQ75 No chr20 54987168 55034396 56411550 56460240 +PA26098 831 HGNC:1515 ENSG00000153113 calpastatin CAST MIR583HG Yes No Comparative Toxicogenomics Database:831, Ensembl:ENSG00000153113, GenAtlas:CAST, GeneCard:CAST, HGNC:HGNC:1515, HumanCyc Gene:HS07883, ModBase:P20810, NCBI Gene:831, OMIM:114090, RefSeq DNA:NT_034772, RefSeq Protein:NP_001035905, RefSeq Protein:NP_001035906, RefSeq Protein:NP_001035907, RefSeq Protein:NP_001035908, RefSeq Protein:NP_001035909, RefSeq Protein:NP_001035910, RefSeq Protein:NP_001035911, RefSeq Protein:NP_001177371, RefSeq Protein:NP_001741, RefSeq Protein:NP_775083, RefSeq Protein:NP_775084, RefSeq Protein:NP_775086, RefSeq RNA:NM_001042440, RefSeq RNA:NM_001042441, RefSeq RNA:NM_001042442, RefSeq RNA:NM_001042443, RefSeq RNA:NM_001042444, RefSeq RNA:NM_001042445, RefSeq RNA:NM_001042446, RefSeq RNA:NM_001190442, RefSeq RNA:NM_001750, RefSeq RNA:NM_173060, RefSeq RNA:NM_173061, RefSeq RNA:NM_173063, RefSeq RNA:NR_033798, UCSC Genome Browser:NM_001750, UniProtKB:P20810 No chr5 95997741 96110387 96662037 96774683 +PA164720260 652968 HGNC:34423 ENSG00000239282 cytosolic arginine sensor for mTORC1 subunit 1 CASTOR1 GATS protein-like 3 GATSL3 Yes No Ensembl:ENSG00000239282, GeneCard:GATSL3, HGNC:HGNC:34423, NCBI Gene:652968, RefSeq DNA:NT_011520, RefSeq Protein:NP_001032755, RefSeq RNA:NM_001037666, UniProtKB:Q8WTX7 No chr22 30681106 30685616 30285118 30289627 +PA164720237 729438 HGNC:37073 ENSG00000274070 cytosolic arginine sensor for mTORC1 subunit 2 CASTOR2 GATS protein-like 2 GATSL1, GATSL2 Yes No Ensembl:ENSG00000274070, GeneCard:GATSL2, HGNC:HGNC:37073, NCBI Gene:729438, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001138536, RefSeq RNA:NM_001145064, UniProtKB:A6NHX0 No chr7 74807605 74867341 74964693 75031532 +PA164720213 352954 HGNC:29954 ENSG00000239521 CASTOR family member 3 CASTOR3 """GATS, stromal antigen 3 opposite strand"", ""stromal antigen 3 opposite strand""" DKFZp686B07267, GATS, STAG3OS Yes No Ensembl:ENSG00000239521, GeneCard:GATS, HGNC:HGNC:29954, NCBI Gene:352954, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_849153, RefSeq RNA:NM_178831, RefSeq RNA:NR_028038, RefSeq RNA:NR_028039, RefSeq RNA:NR_028040, UniProtKB:Q8NAP1 No chr7 99798276 99869855 100187988 100272274 +PA142672203 54897 HGNC:26002 ENSG00000130940 castor zinc finger 1 CASZ1 survival related gene, zinc finger protein 693 FLJ20321, SRG, ZNF693, castor, cst Yes No Comparative Toxicogenomics Database:54897, Ensembl:ENSG00000130940, GeneCard:CASZ1, HGNC:HGNC:26002, HumanCyc Gene:HS13360, NCBI Gene:54897, OMIM:609895, RefSeq DNA:NT_021937, RefSeq Protein:NP_001073312, RefSeq Protein:NP_060236, RefSeq RNA:NM_001079843, RefSeq RNA:NM_017766, UniProtKB:B3KRV8, UniProtKB:Q86V15 No chr1 10696661 10856733 10636602 10796676 +PA26099 847 HGNC:1516 ENSG00000121691 catalase CAT Yes Yes Comparative Toxicogenomics Database:847, Ensembl:ENSG00000121691, GenAtlas:CAT, GeneCard:CAT, HGNC:HGNC:1516, HumanCyc Gene:HS04513, ModBase:P04040, NCBI Gene:847, OMIM:115500, RefSeq DNA:NG_013339, RefSeq DNA:NT_009237, RefSeq Protein:NP_001743, RefSeq RNA:NM_001752, UCSC Genome Browser:NM_001752, UniProtKB:P04040 No chr11 34460472 34493607 34438925 34472060 +PA162379334 375307 HGNC:25062 ENSG00000158428 ciliogenesis associated TTC17 interacting protein CATIP chromosome 2 open reading frame 62 C2orf62, MGC50811 Yes No Ensembl:ENSG00000158428, GeneCard:C2orf62, HGNC:HGNC:25062, ModBase:Q7Z7H3, NCBI Gene:375307, RefSeq DNA:NT_005403, RefSeq Protein:NP_940961, RefSeq RNA:NM_198559, UniProtKB:Q7Z7H3 No chr2 219221579 219233003 218356757 218368393 +PA26106 856 HGNC:1525 CATR tumorigenicity conversion 1 CATR1 Yes No GenAtlas:CATR1, GeneCard:CATR1, HGNC:HGNC:1525, NCBI Gene:856, OMIM:600676 No chr7 +PA38438 117144 HGNC:17116 ENSG00000175294 cation channel sperm associated 1 CATSPER1 cation channel, sperm associated 1 CATSPER Yes No Ensembl:ENSG00000175294, GenAtlas:CATSPER1, GeneCard:CATSPER1, HGNC:HGNC:17116, HumanCyc Gene:HS10906, IUPHAR Receptor:388, ModBase:Q8NEC5, NCBI Gene:117144, OMIM:606389, OMIM:612997, RefSeq DNA:NG_016285, RefSeq DNA:NT_167190, RefSeq Protein:NP_444282, RefSeq RNA:NM_053054, UCSC Genome Browser:NM_053054, UniProtKB:Q8NEC5 No chr11 65784223 65793988 66016752 66026518 +PA38691 117155 HGNC:18810 ENSG00000166762 cation channel sperm associated 2 CATSPER2 cation channel, sperm associated 2 Yes No Ensembl:ENSG00000166762, GenAtlas:CATSPER2, GeneCard:CATSPER2, HGNC:HGNC:18810, HumanCyc Gene:HS09448, IUPHAR Receptor:389, ModBase:Q96P56, NCBI Gene:117155, OMIM:607249, RefSeq DNA:NG_005156, RefSeq DNA:NG_009283, RefSeq DNA:NT_010194, RefSeq Protein:NP_473361, RefSeq Protein:NP_742093, RefSeq Protein:NP_742095, RefSeq RNA:NM_054020, RefSeq RNA:NM_172095, RefSeq RNA:NM_172097, UCSC Genome Browser:NM_054020, UniProtKB:Q96P56 No chr15 43922772 43941039 43630562 43648845 +PA143485409 440278 HGNC:31054 ENSG00000205771 cation channel, sperm associated 2 pseudogene 1 CATSPER2P1 Yes No Ensembl:ENSG00000205771, GeneCard:CATSPER2P1, HGNC:HGNC:31054, NCBI Gene:440278, RefSeq DNA:NG_005156, RefSeq DNA:NT_010194, RefSeq RNA:NR_002318 No chr15 44028132 44038496 43735934 43746298 +PA134911185 347732 HGNC:20819 ENSG00000152705 cation channel sperm associated 3 CATSPER3 cation channel, sperm associated 3 CACRC Yes No Ensembl:ENSG00000152705, GeneCard:CATSPER3, HGNC:HGNC:20819, IUPHAR Receptor:390, ModBase:Q86XQ3, NCBI Gene:347732, OMIM:609120, RefSeq DNA:NT_034772, RefSeq Protein:NP_821138, RefSeq RNA:NM_178019, UniProtKB:Q86XQ3 No chr5 134303596 134347397 134967906 135011707 +PA134941696 378807 HGNC:23220 ENSG00000188782 cation channel sperm associated 4 CATSPER4 cation channel, sperm associated 4 Yes No Ensembl:ENSG00000188782, GeneCard:CATSPER4, HGNC:HGNC:23220, IUPHAR Receptor:391, ModBase:Q7RTX7, NCBI Gene:378807, OMIM:609121, RefSeq DNA:NT_004610, RefSeq Protein:NP_937770, RefSeq RNA:NM_198137, UniProtKB:Q7RTX7 No chr1 26517119 26529033 26189962 26202542 +PA162381112 79820 HGNC:20500 ENSG00000133962 cation channel sperm associated auxiliary subunit beta CATSPERB catsper channel auxiliary subunit beta C14orf161, FLJ14298 Yes No Ensembl:ENSG00000133962, GeneCard:CATSPERB, HGNC:HGNC:20500, HumanCyc Gene:HS13501, ModBase:Q9H7T0, NCBI Gene:79820, OMIM:611169, RefSeq DNA:NT_026437, RefSeq Protein:NP_079040, RefSeq RNA:NM_024764, UniProtKB:B3KWW9, UniProtKB:Q9H7T0 No chr14 92046728 92198413 91580774 91732086 +PA144596254 257062 HGNC:28598 ENSG00000174898 cation channel sperm associated auxiliary subunit delta CATSPERD catsper channel auxiliary subunit delta MGC39581, TMEM146 Yes No Comparative Toxicogenomics Database:257062, Ensembl:ENSG00000174898, GeneCard:TMEM146, HGNC:HGNC:28598, HumanCyc Gene:HS16404, ModBase:Q86XM0, NCBI Gene:257062, RefSeq DNA:NT_011255, RefSeq Protein:NP_689997, RefSeq RNA:NM_152784, UniProtKB:Q86XM0 No chr19 5720688 5778742 5720385 5778734 +PA142672485 257044 HGNC:28491 ENSG00000179397 catsper channel auxiliary subunit epsilon CATSPERE chromosome 1 open reading frame 101 C1orf101, MGC33370 Yes No Ensembl:ENSG00000179397, GeneCard:C1orf101, HGNC:HGNC:28491, NCBI Gene:257044, RefSeq DNA:NT_167186, RefSeq Protein:NP_001124429, RefSeq Protein:NP_001229269, RefSeq Protein:NP_776168, RefSeq RNA:NM_001130957, RefSeq RNA:NM_001242340, RefSeq RNA:NM_173807, UniProtKB:Q5SY80 No chr1 244624673 244803664 244452014 244640362 +PA165393235 57828 HGNC:25243 ENSG00000099338 cation channel sperm associated auxiliary subunit gamma CATSPERG catsper channel auxiliary subunit gamma C19orf15, DKFZp434A1022, FLJ46353 Yes No Ensembl:ENSG00000099338, GeneCard:CATSPERG, HGNC:HGNC:25243, HumanCyc Gene:HS12369, NCBI Gene:57828, OMIM:613452, RefSeq DNA:NT_011109, RefSeq Protein:NP_067008, RefSeq RNA:NM_021185, UniProtKB:Q32MQ2, UniProtKB:Q6ZRH7 No chr19 38826443 38861589 38335563 38370949 +PA164716726 25858 HGNC:19231 ENSG00000219435 catsper channel auxiliary subunit zeta CATSPERZ testis expressed 40 C11orf20, DKFZP566E164, TEX40 Yes No Ensembl:ENSG00000219435, GeneCard:C11orf20, HGNC:HGNC:19231, NCBI Gene:25858, RefSeq DNA:NT_167190, RefSeq Protein:NP_001034585, RefSeq RNA:NM_001039496, UniProtKB:Q9NTU4 No chr11 64067863 64072239 64300391 64304767 +PA26107 857 HGNC:1527 ENSG00000105974 caveolin 1 CAV1 caveolin 1, caveolae protein, 22kDa CAV Yes No Comparative Toxicogenomics Database:857, Ensembl:ENSG00000105974, GenAtlas:CAV1, GeneCard:CAV1, HGNC:HGNC:1527, HumanCyc Gene:HS02837, ModBase:Q03135, NCBI Gene:857, OMIM:601047, OMIM:612526, RefSeq DNA:NG_012051, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001166366, RefSeq Protein:NP_001166367, RefSeq Protein:NP_001166368, RefSeq Protein:NP_001744, RefSeq RNA:NM_001172895, RefSeq RNA:NM_001172896, RefSeq RNA:NM_001172897, RefSeq RNA:NM_001753, UCSC Genome Browser:NM_001753, UniProtKB:A9XTE5, UniProtKB:Q03135, UniProtKB:Q2TNI1, UniProtKB:Q59E85, UniProtKB:Q7Z4F3 No chr7 116164839 116201239 116524785 116561185 +PA26108 858 HGNC:1528 ENSG00000105971 caveolin 2 CAV2 CAV Yes No Comparative Toxicogenomics Database:858, Ensembl:ENSG00000105971, GenAtlas:CAV2, GeneCard:CAV2, HGNC:HGNC:1528, HumanCyc Gene:HS02836, ModBase:P51636, NCBI Gene:858, OMIM:601048, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001193676, RefSeq Protein:NP_001193677, RefSeq Protein:NP_001224, RefSeq Protein:NP_937855, RefSeq RNA:NM_001206747, RefSeq RNA:NM_001206748, RefSeq RNA:NM_001233, RefSeq RNA:NM_198212, UCSC Genome Browser:NM_001233, UniProtKB:P51636, UniProtKB:Q53X57 No chr7 116139655 116148595 116499601 116508541 +PA26109 859 HGNC:1529 ENSG00000182533 caveolin 3 CAV3 M-caveolin LGMD1C, LQT9, VIP-21, VIP21 Yes No Comparative Toxicogenomics Database:859, Ensembl:ENSG00000182533, GenAtlas:CAV3, GeneCard:CAV3, HGNC:HGNC:1529, ModBase:P56539, NCBI Gene:859, OMIM:123320, OMIM:192600, OMIM:601253, OMIM:606072, OMIM:607801, OMIM:611818, RefSeq DNA:NG_008797, RefSeq DNA:NT_022517, RefSeq Protein:NP_001225, RefSeq Protein:NP_203123, RefSeq RNA:NM_001234, RefSeq RNA:NM_033337, UCSC Genome Browser:NM_001234, UniProtKB:A8K777, UniProtKB:P56539 No chr3 8775486 8788451 8733800 8746765 +PA34031 284119 HGNC:9688 ENSG00000177469 caveolae associated protein 1 CAVIN1 congenital generalized lipodystrophy 4, polymerase I and transcript release factor CAVIN1, CGL4, PTRF, cavin-1 Yes No Comparative Toxicogenomics Database:284119, Ensembl:ENSG00000177469, GenAtlas:PTRF, GeneCard:PTRF, HGNC:HGNC:9688, HumanCyc Gene:HS16865, ModBase:Q6NZI2, NCBI Gene:284119, OMIM:603198, OMIM:613327, RefSeq DNA:NG_015845, RefSeq DNA:NT_010783, RefSeq Protein:NP_036364, RefSeq RNA:NM_012232, UCSC Genome Browser:NM_012232, UniProtKB:Q6NZI2 No chr17 40554467 40575506 42402449 42423320 +PA35615 8436 HGNC:10690 ENSG00000168497 caveolae associated protein 2 CAVIN2 phosphatidylserine binding protein, serum deprivation response CAVIN2, PS-p68, SDPR, SDR, cavin-2 Yes No Comparative Toxicogenomics Database:8436, Ensembl:ENSG00000168497, GenAtlas:SDPR, GeneCard:SDPR, HGNC:HGNC:10690, HumanCyc Gene:HS09775, ModBase:O95810, NCBI Gene:8436, OMIM:606728, RefSeq DNA:NT_005403, RefSeq Protein:NP_004648, RefSeq RNA:NM_004657, UCSC Genome Browser:NM_004657, UniProtKB:O95810 No chr2 192699031 192712006 191834305 191847280 +PA33764 112464 HGNC:9400 ENSG00000170955 caveolae associated protein 3 CAVIN3 """protein kinase C, delta binding protein"", ""sdr-related gene product that binds to c-kinase""" CAVIN3, HSRBC, MGC20400, PRKCDBP, SRBC, cavin-3 Yes No Comparative Toxicogenomics Database:112464, Ensembl:ENSG00000170955, GenAtlas:PRKCDBP, GeneCard:PRKCDBP, HGNC:HGNC:9400, HumanCyc Gene:HS15938, NCBI Gene:112464, RefSeq DNA:NT_009237, RefSeq Protein:NP_659477, RefSeq RNA:NM_145040, UCSC Genome Browser:NM_145040, UniProtKB:Q969G5 No chr11 6340176 6341740 6318946 6320510 +PA164723237 347273 HGNC:33742 ENSG00000170681 caveolae associated protein 4 CAVIN4 muscle-related coiled-coil protein, muscle-restricted coiled-coil protein CAVIN4, MURC, cavin-4 Yes No Ensembl:ENSG00000170681, GeneCard:MURC, HGNC:HGNC:33742, ModBase:Q5BKX8, NCBI Gene:347273, RefSeq DNA:NT_008470, RefSeq Protein:NP_001018126, RefSeq RNA:NM_001018116, UniProtKB:Q5BKX8 No chr9 103340361 103350671 100578079 100588389 +PA134919853 255057 HGNC:28617 ENSG00000099625 CACN subunit beta associated regulatory protein CBARP VGCC beta-anchoring and -regulatory protein, chromosome 19 open reading frame 26, downstream of STK11 BARP, C19orf26, DOS, MGC40084 Yes Yes Ensembl:ENSG00000099625, GeneCard:C19orf26, HGNC:HGNC:28617, NCBI Gene:255057, RefSeq DNA:NT_011255, RefSeq Protein:NP_689982, RefSeq RNA:NM_152769, UniProtKB:Q8N350 No chr19 1228059 1237990 1228287 1238512 +PA26112 9139 HGNC:1536 ENSG00000078699 CBFA2/RUNX1 partner transcriptional co-repressor 2 CBFA2T2 """CBFA2/RUNX1 translocation partner 2"", ""core-binding factor, runt domain, alpha subunit 2; translocated to, 2""" MTGR1, ZMYND3 Yes No Comparative Toxicogenomics Database:9139, Ensembl:ENSG00000078699, GenAtlas:CBFA2T2, GeneCard:CBFA2T2, HGNC:HGNC:1536, HumanCyc Gene:HS01297, ModBase:Q9UJP9, NCBI Gene:9139, OMIM:603672, RefSeq DNA:NT_011362, RefSeq Protein:NP_001028171, RefSeq Protein:NP_001034798, RefSeq Protein:NP_005084, RefSeq RNA:NM_001032999, RefSeq RNA:NM_001039709, RefSeq RNA:NM_005093, UCSC Genome Browser:NM_005093, UniProtKB:O43439 No chr20 32077928 32237837 33490068 33650031 +PA26113 863 HGNC:1537 ENSG00000129993 CBFA2/RUNX1 partner transcriptional co-repressor 3 CBFA2T3 """CBFA2/RUNX1 translocation partner 3"", ""core-binding factor, runt domain, alpha subunit 2; translocated to, 3"", ""myeloid translocation gene 8 and 16b""" ETO2, MTG16, MTGR2, RUNX1T3, ZMYND4 Yes No Comparative Toxicogenomics Database:863, Ensembl:ENSG00000129993, GenAtlas:CBFA2T3, GeneCard:CBFA2T3, HGNC:HGNC:1537, HumanCyc Gene:HS05326, ModBase:Q6P5W6, NCBI Gene:863, OMIM:603870, RefSeq DNA:NT_010542, RefSeq Protein:NP_005178, RefSeq Protein:NP_787127, RefSeq RNA:NM_005187, RefSeq RNA:NM_175931, UCSC Genome Browser:NM_005187, UniProtKB:O75081 No chr16 88941263 89043568 88874855 88977198 +PA26114 865 HGNC:1539 ENSG00000067955 core-binding factor subunit beta CBFB core-binding factor, beta subunit PEBP2B Yes No Comparative Toxicogenomics Database:865, Ensembl:ENSG00000067955, GenAtlas:CBFB, GeneCard:CBFB, HGNC:HGNC:1539, HumanCyc Gene:HS00923, ModBase:Q13951, NCBI Gene:865, OMIM:121360, RefSeq DNA:NG_009281, RefSeq DNA:NT_010498, RefSeq Protein:NP_001746, RefSeq Protein:NP_074036, RefSeq RNA:NM_001755, RefSeq RNA:NM_022845, UCSC Genome Browser:NM_001755, UniProtKB:Q13951 No chr16 67063050 67134961 67029147 67101058 +PA26115 867 HGNC:1541 ENSG00000110395 Cbl proto-oncogene CBL """Cbl proto-oncogene, E3 ubiquitin protein ligase"", ""oncogene CBL2""" CBL2, FRA11B, RNF55, c-Cbl Yes No Comparative Toxicogenomics Database:867, Ensembl:ENSG00000110395, GenAtlas:CBL, GeneCard:CBL, HGNC:HGNC:1541, HumanCyc Gene:HS03306, ModBase:P22681, NCBI Gene:867, OMIM:165360, RefSeq DNA:NG_016808, RefSeq DNA:NT_033899, RefSeq Protein:NP_005179, RefSeq RNA:NM_005188, UCSC Genome Browser:NM_005188, UniProtKB:P22681 No chr11 119076986 119178859 119206276 119308149 +PA26116 868 HGNC:1542 ENSG00000114423 Cbl proto-oncogene B CBLB """Cbl proto-oncogene B, E3 ubiquitin protein ligase"", ""Cbl proto-oncogene, E3 ubiquitin protein ligase B""" Cbl-b, RNF56 Yes No Comparative Toxicogenomics Database:868, Ensembl:ENSG00000114423, GenAtlas:CBLB, GeneCard:CBLB, HGNC:HGNC:1542, HumanCyc Gene:HS03768, ModBase:Q13191, NCBI Gene:868, OMIM:604491, RefSeq DNA:NT_005612, RefSeq Protein:NP_733762, RefSeq RNA:NM_170662, UCSC Genome Browser:NM_004351, UCSC Genome Browser:NM_170662, UniProtKB:A8K9S7, UniProtKB:B3KSS7, UniProtKB:Q13191 No chr3 105374306 105589354 105655461 105869552 +PA26117 23624 HGNC:15961 ENSG00000142273 Cbl proto-oncogene C CBLC """Cbl proto-oncogene C, E3 ubiquitin protein ligase"", ""Cbl proto-oncogene, E3 ubiquitin protein ligase C""" CBL-3, CBL-SL, RNF57 Yes No Comparative Toxicogenomics Database:23624, Ensembl:ENSG00000142273, GenAtlas:CBLC, GeneCard:CBLC, HGNC:HGNC:15961, HumanCyc Gene:HS06915, ModBase:Q9ULV8, NCBI Gene:23624, OMIM:608453, RefSeq DNA:NT_011109, RefSeq Protein:NP_001124324, RefSeq Protein:NP_036248, RefSeq RNA:NM_001130852, RefSeq RNA:NM_012116, UCSC Genome Browser:NM_012116, UniProtKB:Q9ULV8 No chr19 45281126 45303903 44777855 44800646 +PA28678 2694 HGNC:4268 ENSG00000134812 cobalamin binding intrinsic factor CBLIF gastric intrinsic factor (vitamin B synthesis) GIF, IF, IFMH, INF, TCN3 Yes No Comparative Toxicogenomics Database:2694, Ensembl:ENSG00000134812, GenAtlas:GIF, GeneCard:GIF, HGNC:HGNC:4268, HumanCyc Gene:HS05914, ModBase:P27352, NCBI Gene:2694, OMIM:261000, OMIM:609342, RefSeq DNA:NG_008120, RefSeq DNA:NT_167190, RefSeq Protein:NP_005133, RefSeq RNA:NM_005142, UCSC Genome Browser:NM_005142, UniProtKB:P27352 No chr11 59596746 59612974 59829268 59845529 +PA134960329 79872 HGNC:21225 ENSG00000105879 Cbl proto-oncogene like 1 CBLL1 """Casitas B-lineage lymphoma-like"", ""Cbl proto-oncogene, E3 ubiquitin protein ligase-like 1"", ""Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase""" FLJ23109, HAKAI, RNF188 Yes No Comparative Toxicogenomics Database:79872, Ensembl:ENSG00000105879, GeneCard:CBLL1, HGNC:HGNC:21225, HumanCyc Gene:HS12613, NCBI Gene:79872, OMIM:606872, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_079090, RefSeq RNA:NM_024814, RefSeq RNA:NR_024199, UniProtKB:B4DDV7, UniProtKB:Q75N03 No chr7 107383942 107402112 107743497 107764997 +PA134934025 158506 HGNC:26371 ENSG00000175809 Cbl proto-oncogene like 2 CBLL2 zinc finger protein 645 CT138, FLJ25735, HAKAIL, ZNF645 Yes No Ensembl:ENSG00000175809, GeneCard:ZNF645, HGNC:HGNC:26371, HumanCyc Gene:HS16516, ModBase:Q8N7E2, NCBI Gene:158506, RefSeq DNA:NG_021438, RefSeq DNA:NT_167197, RefSeq Protein:NP_689790, RefSeq RNA:NM_152577, UniProtKB:Q8N7E2 No chrX 22291030 22292578 22272913 22274461 +PA26118 869 HGNC:1543 ENSG00000102924 cerebellin 1 precursor CBLN1 Yes No Comparative Toxicogenomics Database:869, Ensembl:ENSG00000102924, GenAtlas:CBLN1, GeneCard:CBLN1, HGNC:HGNC:1543, HumanCyc Gene:HS02429, ModBase:P23435, NCBI Gene:869, OMIM:600432, RefSeq DNA:NT_010498, RefSeq Protein:NP_004343, RefSeq RNA:NM_004352, UCSC Genome Browser:NM_004352, UniProtKB:P23435 No chr16 49311828 49315742 49277917 49281831 +PA26119 147381 HGNC:1544 ENSG00000141668 cerebellin 2 precursor CBLN2 Yes No Ensembl:ENSG00000141668, GenAtlas:CBLN2, GeneCard:CBLN2, HGNC:HGNC:1544, ModBase:Q8IUK8, NCBI Gene:147381, OMIM:600433, RefSeq DNA:NT_025028, RefSeq Protein:NP_872317, RefSeq RNA:NM_182511, UniProtKB:Q8IUK8 No chr18 70203915 70211723 72533720 72638485 +PA134885212 643866 HGNC:20146 ENSG00000139899 cerebellin 3 precursor CBLN3 Yes No Ensembl:ENSG00000139899, GeneCard:CBLN3, HGNC:HGNC:20146, ModBase:Q6UW01, NCBI Gene:643866, OMIM:612978, RefSeq DNA:NT_026437, RefSeq Protein:NP_001034860, RefSeq RNA:NM_001039771, UniProtKB:Q6UW01 No chr14 24895738 24898731 24426532 24429525 +PA26120 140689 HGNC:16231 ENSG00000054803 cerebellin 4 precursor CBLN4 CBLNL1, dJ885A10.1 Yes No Ensembl:ENSG00000054803, GenAtlas:CBLN4, GeneCard:CBLN4, HGNC:HGNC:16231, HumanCyc Gene:HS12137, ModBase:Q9NTU7, NCBI Gene:140689, RefSeq DNA:NT_011362, RefSeq Protein:NP_542184, RefSeq RNA:NM_080617, UCSC Genome Browser:NM_080617, UniProtKB:Q9NTU7 No chr20 54572413 54580528 55997357 56005472 +PA26121 873 HGNC:1548 ENSG00000159228 carbonyl reductase 1 CBR1 short chain dehydrogenase/reductase family 21C, member 1 CBR, SDR21C1 Yes Yes Comparative Toxicogenomics Database:873, Ensembl:ENSG00000159228, GenAtlas:CBR1, GeneCard:CBR1, HGNC:HGNC:1548, HumanCyc Gene:HS08378, ModBase:P16152, NCBI Gene:873, OMIM:114830, RefSeq DNA:NT_011512, RefSeq Protein:NP_001748, RefSeq RNA:NM_001757, UCSC Genome Browser:NM_001757, UniProtKB:P16152 No chr21 37442285 37445462 36069924 36073177 +PA26122 874 HGNC:1549 ENSG00000159231 carbonyl reductase 3 CBR3 short chain dehydrogenase/reductase family 21C, member 2 SDR21C2 Yes Yes Comparative Toxicogenomics Database:874, Ensembl:ENSG00000159231, GenAtlas:CBR3, GeneCard:CBR3, HGNC:HGNC:1549, HumanCyc Gene:HS08379, ModBase:O75828, NCBI Gene:874, OMIM:603608, RefSeq DNA:NT_011512, RefSeq Protein:NP_001227, RefSeq RNA:NM_001236, UCSC Genome Browser:NM_001236, UniProtKB:O75828 No chr21 37506614 37518860 36134901 36146562 +PA144596471 84869 HGNC:25891 ENSG00000145439 carbonyl reductase 4 CBR4 short chain dehydrogenase/reductase family 45C, member 1 FLJ14431, SDR45C1 Yes No Comparative Toxicogenomics Database:84869, Ensembl:ENSG00000145439, GeneCard:CBR4, HGNC:HGNC:25891, HumanCyc Gene:HS07256, ModBase:Q8N4T8, NCBI Gene:84869, RefSeq DNA:NT_016354, RefSeq Protein:NP_116172, RefSeq RNA:NM_032783, UniProtKB:Q8N4T8 No chr4 169815774 169931468 168894484 169010317 +PA26123 875 HGNC:1550 ENSG00000160200 cystathionine beta-synthase CBS cystathionine-beta-synthase HIP4 Yes Yes Comparative Toxicogenomics Database:875, Ensembl:ENSG00000160200, GenAtlas:CBS, GeneCard:CBS, HGNC:HGNC:1550, HumanCyc Gene:HS08461, ModBase:P35520, NCBI Gene:875, OMIM:236200, OMIM:613381, RefSeq DNA:NG_008938, RefSeq DNA:NT_011515, RefSeq Protein:NP_000062, RefSeq Protein:NP_001171479, RefSeq Protein:NP_001171480, RefSeq RNA:NM_000071, RefSeq RNA:NM_001178008, RefSeq RNA:NM_001178009, UCSC Genome Browser:NM_000071, UniProtKB:P35520, UniProtKB:Q9NTF0 No chr21 44473301 44496472 43053190 43076868 +PA166352381 HGNC:51829 cystathionine beta-synthase like CBSL Yes No HGNC:HGNC:51829 No 0 0 0 0 +PA134953736 653510 HGNC:18520 ENSG00000204778 COBW domain containing 4 pseudogene CBWD4P Yes No Ensembl:ENSG00000204778, GeneCard:CBWD4P, HGNC:HGNC:18520, NCBI Gene:653510 No chr9 70181086 70214885 65287480 65321282 +PA26126 10951 HGNC:1551 ENSG00000108468 chromobox 1 CBX1 HP1 beta homolog (Drosophila ), chromobox homolog 1 CBX, HP1-BETA, HP1Hs-beta, Hp1beta, M31, MOD1 Yes No Comparative Toxicogenomics Database:10951, Ensembl:ENSG00000108468, GenAtlas:CBX1, GeneCard:CBX1, HGNC:HGNC:1551, HumanCyc Gene:HS03109, ModBase:P83916, NCBI Gene:10951, OMIM:604511, RefSeq DNA:NT_010783, RefSeq Protein:NP_001120700, RefSeq Protein:NP_006798, RefSeq RNA:NM_001127228, RefSeq RNA:NM_006807, UCSC Genome Browser:NM_006807, UniProtKB:P83916, UniProtKB:Q6IBN6 No chr17 46147414 46178883 48070052 48101521 +PA26127 84733 HGNC:1552 ENSG00000173894 chromobox 2 CBX2 Pc class homolog (Drosophila), chromobox homolog 2 CDCA6, M33, MGC10561 Yes No Comparative Toxicogenomics Database:84733, Ensembl:ENSG00000173894, GenAtlas:CBX2, GeneCard:CBX2, HGNC:HGNC:1552, ModBase:Q14781, NCBI Gene:84733, OMIM:602770, OMIM:613080, RefSeq DNA:NG_016986, RefSeq DNA:NT_010783, RefSeq Protein:NP_005180, RefSeq Protein:NP_116036, RefSeq RNA:NM_005189, RefSeq RNA:NM_032647, UniProtKB:Q14781 No chr17 77751977 77761449 79776254 79787650 +PA26128 11335 HGNC:1553 ENSG00000122565 chromobox 3 CBX3 HP1 gamma homolog (Drosophila), chromobox homolog 3 HP1Hs-gamma, HP1gamma Yes No Comparative Toxicogenomics Database:11335, Ensembl:ENSG00000122565, GenAtlas:CBX3, GeneCard:CBX3, HGNC:HGNC:1553, HumanCyc Gene:HS04578, ModBase:Q13185, NCBI Gene:11335, OMIM:604477, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_009207, RefSeq Protein:NP_057671, RefSeq RNA:NM_007276, RefSeq RNA:NM_016587, UCSC Genome Browser:NM_007276, UniProtKB:A4D177, UniProtKB:Q13185 No chr7 26240831 26253227 26201211 26213607 +PA26129 8535 HGNC:1554 ENSG00000141582 chromobox 4 CBX4 E3 SUMO-protein ligase CBX4, NS5ATP1-binding protein 16, Pc class 2 homolog (Drosophila), chromobox homolog 4 NBP16, PC2, hPC2 Yes No Comparative Toxicogenomics Database:8535, Ensembl:ENSG00000141582, GenAtlas:CBX4, GeneCard:CBX4, HGNC:HGNC:1554, HumanCyc Gene:HS06855, ModBase:O00257, NCBI Gene:8535, OMIM:603079, RefSeq DNA:NT_010783, RefSeq Protein:NP_003646, RefSeq RNA:NM_003655, UCSC Genome Browser:NM_003655, UniProtKB:O00257 No chr17 77806955 77813222 79833156 79839414 +PA26130 23468 HGNC:1555 ENSG00000094916 chromobox 5 CBX5 HP1 alpha homolog (Drosophila), chromobox homolog 5 HP1, HP1-ALPHA, HP1Hs-alpha, HP1alpha Yes No Comparative Toxicogenomics Database:23468, Ensembl:ENSG00000094916, GenAtlas:CBX5, GeneCard:CBX5, HGNC:HGNC:1555, HumanCyc Gene:HS01806, ModBase:P45973, NCBI Gene:23468, OMIM:604478, RefSeq DNA:NT_029419, RefSeq Protein:NP_001120793, RefSeq Protein:NP_001120794, RefSeq Protein:NP_036249, RefSeq RNA:NM_001127321, RefSeq RNA:NM_001127322, RefSeq RNA:NM_012117, UCSC Genome Browser:NM_012117, UniProtKB:P45973 No chr12 54624730 54673915 54230946 54280131 +PA26131 23466 HGNC:1556 ENSG00000183741 chromobox 6 CBX6 chromobox homolog 6 Yes No Comparative Toxicogenomics Database:23466, Ensembl:ENSG00000183741, GenAtlas:CBX6, GeneCard:CBX6, HGNC:HGNC:1556, ModBase:O95503, NCBI Gene:23466, RefSeq DNA:NT_011520, RefSeq Protein:NP_055107, RefSeq RNA:NM_014292, UCSC Genome Browser:NM_014292, UniProtKB:O95503 No chr22 39257468 39268258 38861427 38872334 +PA26132 23492 HGNC:1557 ENSG00000100307 chromobox 7 CBX7 chromobox homolog 7 Yes No Comparative Toxicogenomics Database:23492, Ensembl:ENSG00000100307, GenAtlas:CBX7, GeneCard:CBX7, HGNC:HGNC:1557, HumanCyc Gene:HS02037, ModBase:O95931, NCBI Gene:23492, OMIM:608457, RefSeq DNA:NT_011520, RefSeq Protein:NP_783640, RefSeq RNA:NM_175709, UCSC Genome Browser:NM_175709, UniProtKB:O95931 No chr22 39526777 39548661 39130772 39152661 +PA26133 57332 HGNC:15962 ENSG00000141570 chromobox 8 CBX8 Pc class 3 homolog (Drosophila), chromobox homolog 8, polycomb 3 HPC3, PC3, RC1 Yes No Comparative Toxicogenomics Database:57332, Ensembl:ENSG00000141570, GenAtlas:CBX8, GeneCard:CBX8, HGNC:HGNC:15962, HumanCyc Gene:HS06853, ModBase:Q9HC52, NCBI Gene:57332, RefSeq DNA:NT_010783, RefSeq Protein:NP_065700, RefSeq RNA:NM_020649, UCSC Genome Browser:NM_020649, UniProtKB:Q9HC52 No chr17 77768176 77770915 79794377 79797116 +PA25886 25776 HGNC:1307 ENSG00000100211 chibby 1, beta catenin antagonist CBY1 """chibby CTNNB1-mediated transcription inhibitor"", ""chibby family member 1, beta catenin antagonist"", ""chibby homolog 1 (Drosophila)""" C22orf2, Cby, Chibby, Chibby1, PGEA1, PIGEA-14, PIGEA14 Yes No Ensembl:ENSG00000100211, GenAtlas:PGEA1, GeneCard:CBY1, GeneCard:PGEA1, HGNC:HGNC:1307, HumanCyc Gene:HS12395, NCBI Gene:25776, OMIM:607757, RefSeq DNA:NT_011520, RefSeq Protein:NP_001002880, RefSeq Protein:NP_056188, RefSeq RNA:NM_001002880, RefSeq RNA:NM_015373, UCSC Genome Browser:NM_015373, UniProtKB:Q9Y3M2 No chr22 39052658 39069859 38656653 38673850 +PA166352382 220082 HGNC:30720 chibby family member 2 CBY2 SPERT, chibby homolog 2 (Drosophila), spermatid flower-like structure protein, testis specific leucine zipper protein nurit NURIT Yes No HGNC:HGNC:30720, NCBI Gene:220082 No 0 0 0 0 +PA162381185 646019 HGNC:33278 ENSG00000204659 chibby family member 3 CBY3 chibby homolog 3 (Drosophila) Yes No Ensembl:ENSG00000204659, GeneCard:CBY3, HGNC:HGNC:33278, ModBase:A6NI87, NCBI Gene:646019, RefSeq DNA:NT_023133, RefSeq Protein:NP_001157916, RefSeq Protein:XP_001724185, RefSeq Protein:XP_934075, RefSeq Protein:XP_942087, RefSeq RNA:NM_001164444, RefSeq RNA:XM_001724133, RefSeq RNA:XM_928982, RefSeq RNA:XM_936994, UniProtKB:A6NI87 No chr5 179105559 179107975 179677969 179681830 +PA142672197 54862 HGNC:30237 ENSG00000132024 coiled-coil and C2 domain containing 1A CC2D1A """Akt Kinase-Interacting Protein 1"", ""Five prime repressor element under dual repression-binding protein 1"", ""TBK1-associated protein in endolysosomes"", ""lethal (2) giant discs homolog 2"", ""mental retardation, nonsyndromic, autosomal recessive, 3""" Aki-1, FLJ20241, Freud-1, Lgd2, MRT3, TAPE Yes No Comparative Toxicogenomics Database:54862, Ensembl:ENSG00000132024, GeneCard:CC2D1A, HGNC:HGNC:30237, HumanCyc Gene:HS13413, ModBase:Q6P1N0, NCBI Gene:54862, OMIM:608443, OMIM:610055, RefSeq DNA:NG_013089, RefSeq DNA:NT_011295, RefSeq Protein:NP_060191, RefSeq RNA:NM_017721, UniProtKB:Q6P1N0 No chr19 14016956 14041693 13906143 13930880 +PA142672198 200014 HGNC:29386 ENSG00000154222 coiled-coil and C2 domain containing 1B CC2D1B Five prime repressor element under dual repression-binding protein 2, lethal (2) giant discs homolog 1 Freud-2, KIAA1836, Lgd1 Yes No Comparative Toxicogenomics Database:200014, Ensembl:ENSG00000154222, GeneCard:CC2D1B, HGNC:HGNC:29386, ModBase:Q5T0F9, NCBI Gene:200014, RefSeq DNA:NT_032977, RefSeq Protein:NP_115825, RefSeq RNA:NM_032449, UniProtKB:Q5T0F9 No chr1 52816265 52831877 52348437 52366291 +PA162381194 57545 HGNC:29253 ENSG00000048342 coiled-coil and C2 domain containing 2A CC2D2A Meckel syndrome, type 6 JBTS9, KIAA1345, MKS6 Yes No Ensembl:ENSG00000048342, GeneCard:CC2D2A, HGNC:HGNC:29253, ModBase:Q9P2K1, NCBI Gene:57545, OMIM:216360, OMIM:612013, OMIM:612284, OMIM:612285, RefSeq DNA:NG_013035, RefSeq DNA:NT_006316, RefSeq Protein:NP_001073991, RefSeq Protein:NP_001158192, RefSeq Protein:NP_065836, RefSeq RNA:NM_001080522, RefSeq RNA:NM_001164720, RefSeq RNA:NM_020785, RefSeq RNA:NR_024098, UniProtKB:D6RB72, UniProtKB:Q9P2K1 No chr4 15471489 15603594 15468660 15601971 +PA162381273 387707 HGNC:31666 ENSG00000188649 coiled-coil and C2 domain containing 2B CC2D2B C10orf130, C10orf131, bA248J23.4, bA690P14.3 Yes No Ensembl:ENSG00000188649, GeneCard:CC2D2B, HGNC:HGNC:31666, ModBase:Q6DHV5, NCBI Gene:387707, RefSeq DNA:NT_030059, RefSeq Protein:NP_001001732, RefSeq Protein:NP_001153219, RefSeq RNA:NM_001001732, RefSeq RNA:NM_001159747, UniProtKB:B4DYD4, UniProtKB:Q6DHV5 No chr10 97721331 97793496 95974029 96035167 +PA134920227 55749 HGNC:24236 ENSG00000060339 cell division cycle and apoptosis regulator 1 CCAR1 CARP-1, CARP1, FLJ10590, uc.285+ Yes No Comparative Toxicogenomics Database:55749, Ensembl:ENSG00000060339, GeneCard:CCAR1, HGNC:HGNC:24236, ModBase:Q9NWM6, NCBI Gene:55749, OMIM:612569, RefSeq DNA:NT_030059, RefSeq Protein:NP_060707, RefSeq RNA:NM_018237, UniProtKB:Q8IX12 No chr10 70480956 70552134 68721144 68792377 +PA134993792 57805 HGNC:23360 ENSG00000158941 cell cycle and apoptosis regulator 2 CCAR2 deleted in breast cancer, deleted in breast cancer 1 DBC-1, DBC1, KIAA1967, NET35 Yes No Ensembl:ENSG00000158941, GeneCard:KIAA1967, HGNC:HGNC:23360, HumanCyc Gene:HS14738, ModBase:Q9HD12, NCBI Gene:57805, OMIM:607359, RefSeq DNA:NT_167187, RefSeq Protein:NP_066997, RefSeq Protein:NP_954675, RefSeq RNA:NM_001393997, RefSeq RNA:NM_021174, RefSeq RNA:NM_199205, UniProtKB:B3KTJ9, UniProtKB:Q8N163 No chr8 22462145 22477984 22604632 22620471 +PA134880094 147372 HGNC:29426 ENSG00000183287 collagen and calcium binding EGF domains 1 CCBE1 FLJ30681, KIAA1983 Yes No Comparative Toxicogenomics Database:147372, Ensembl:ENSG00000183287, GeneCard:CCBE1, HGNC:HGNC:29426, ModBase:Q6UXH8, NCBI Gene:147372, OMIM:235510, OMIM:612753, RefSeq DNA:NG_016990, RefSeq DNA:NT_025028, RefSeq Protein:NP_597716, RefSeq RNA:NM_133459, UniProtKB:Q6UXH8 No chr18 57098171 57364860 59430939 59698181 +PA144596469 92922 HGNC:28097 ENSG00000135736 coiled-coil domain containing 102A CCDC102A MGC10992 Yes No Comparative Toxicogenomics Database:92922, Ensembl:ENSG00000135736, GeneCard:CCDC102A, HGNC:HGNC:28097, HumanCyc Gene:HS13590, ModBase:Q96A19, NCBI Gene:92922, RefSeq DNA:NT_010498, RefSeq Protein:NP_149989, RefSeq RNA:NM_033212, UniProtKB:Q96A19 No chr16 57546090 57570477 57512178 57538305 +PA134948675 79839 HGNC:26295 ENSG00000150636 coiled-coil domain containing 102B CCDC102B ACY1L, AN, C18orf14, FLJ23594, HsT1731 Yes No Comparative Toxicogenomics Database:79839, Ensembl:ENSG00000150636, GeneCard:CCDC102B, HGNC:HGNC:26295, HumanCyc Gene:HS14329, NCBI Gene:79839, RefSeq DNA:NT_025028, RefSeq Protein:NP_001087198, RefSeq Protein:NP_079057, RefSeq RNA:NM_001093729, RefSeq RNA:NM_024781, UniProtKB:A1A4H1, UniProtKB:Q68D86 No chr18 66382466 66756517 68715221 69214350 +PA145008596 388389 HGNC:32700 ENSG00000167131 coiled-coil domain containing 103 CCDC103 CILD17, FLJ13094, FLJ34211, PR46b Yes No Ensembl:ENSG00000167131, GeneCard:CCDC103, HGNC:HGNC:32700, ModBase:Q8IW40, NCBI Gene:388389, RefSeq DNA:NT_010783, RefSeq Protein:NP_998772, RefSeq RNA:NM_213607, UniProtKB:Q8IW40 No chr17 42977080 42983541 44899712 44903679 +PA145008652 29903 HGNC:30181 ENSG00000173581 coiled-coil domain containing 106 CCDC106 HSU79303 Yes No Comparative Toxicogenomics Database:29903, Ensembl:ENSG00000173581, GeneCard:CCDC106, HGNC:HGNC:30181, HumanCyc Gene:HS16229, ModBase:Q9BWC9, NCBI Gene:29903, OMIM:613478, RefSeq DNA:NT_011109, RefSeq Protein:NP_037433, RefSeq RNA:NM_013301, UniProtKB:Q9BWC9 No chr19 56158934 56164527 55647588 55653161 +PA145008668 203260 HGNC:28465 ENSG00000159884 coiled-coil domain containing 107 CCDC107 MGC31967 Yes No Comparative Toxicogenomics Database:203260, Ensembl:ENSG00000159884, GeneCard:CCDC107, HGNC:HGNC:28465, NCBI Gene:203260, RefSeq DNA:NT_008413, RefSeq Protein:NP_001182129, RefSeq Protein:NP_001182130, RefSeq Protein:NP_001182146, RefSeq Protein:NP_777583, RefSeq RNA:NM_001195200, RefSeq RNA:NM_001195201, RefSeq RNA:NM_001195217, RefSeq RNA:NM_174923, UniProtKB:Q8WV48 No chr9 35658279 35661500 35658282 35661503 +PA162381283 256309 HGNC:28504 ENSG00000168491 coiled-coil domain containing 110 CCDC110 cancer/testis antigen 52 CT52, KM-HN-1, MGC33607 Yes No Ensembl:ENSG00000168491, GeneCard:CCDC110, HGNC:HGNC:28504, HumanCyc Gene:HS15676, ModBase:Q8TBZ0, NCBI Gene:256309, OMIM:609488, RefSeq DNA:NT_016354, RefSeq Protein:NP_001138883, RefSeq Protein:NP_689988, RefSeq RNA:NM_001145411, RefSeq RNA:NM_152775, UniProtKB:Q8TBZ0 No chr4 186366336 186392913 185445182 185471759 +PA145008783 153733 HGNC:28599 ENSG00000164221 coiled-coil domain containing 112 CCDC112 MGC39633 Yes No Ensembl:ENSG00000164221, GeneCard:CCDC112, HGNC:HGNC:28599, HumanCyc Gene:HS15170, ModBase:Q8NEF3, NCBI Gene:153733, RefSeq DNA:NT_034772, RefSeq Protein:NP_001035530, RefSeq Protein:NP_689762, RefSeq RNA:NM_001040440, RefSeq RNA:NM_152549, UniProtKB:Q8NEF3 No chr5 114602885 114632458 115267188 115296761 +PA145149287 84317 HGNC:28178 ENSG00000136710 coiled-coil domain containing 115 CCDC115 FLJ30131, MGC12981, ccp1 Yes No Comparative Toxicogenomics Database:84317, Ensembl:ENSG00000136710, GeneCard:CCDC115, HGNC:HGNC:28178, HumanCyc Gene:HS13635, ModBase:Q96NT0, NCBI Gene:84317, RefSeq DNA:NT_022135, RefSeq Protein:NP_115733, RefSeq RNA:NM_032357, UniProtKB:Q96NT0 No chr2 131095814 131100383 130337933 130342681 +PA145149301 164592 HGNC:26688 ENSG00000161180 coiled-coil domain containing 116 CCDC116 FLJ36046 Yes No Ensembl:ENSG00000161180, GeneCard:CCDC116, HGNC:HGNC:26688, HumanCyc Gene:HS14854, NCBI Gene:164592, RefSeq DNA:NT_011520, RefSeq Protein:NP_689825, RefSeq RNA:NM_152612, UniProtKB:Q8IYX3 No chr22 21987086 21991616 21632121 21637327 +PA145149315 150275 HGNC:26599 ENSG00000159873 coiled-coil domain containing 117 CCDC117 FLJ33814 Yes No Comparative Toxicogenomics Database:150275, Ensembl:ENSG00000159873, GeneCard:CCDC117, HGNC:HGNC:26599, HumanCyc Gene:HS14786, ModBase:Q8IWD4, NCBI Gene:150275, RefSeq DNA:NT_011520, RefSeq Protein:NP_775781, RefSeq RNA:NM_173510, UniProtKB:Q8IWD4 No chr22 29168662 29185283 28772674 28789301 +PA134970849 151903 HGNC:28332 ENSG00000160799 coiled-coil domain containing 12 CCDC12 MGC23918 Yes Yes Ensembl:ENSG00000160799, GeneCard:CCDC12, HGNC:HGNC:28332, HumanCyc Gene:HS14829, ModBase:Q8WUD4, NCBI Gene:151903, RefSeq DNA:NT_022517, RefSeq Protein:NP_653317, RefSeq RNA:NM_144716, UniProtKB:Q8WUD4 No chr3 46963220 47023500 46917905 46982031 +PA145149329 90060 HGNC:28910 ENSG00000147144 coiled-coil domain containing 120 CCDC120 JM11 Yes No Comparative Toxicogenomics Database:90060, Ensembl:ENSG00000147144, GeneCard:CCDC120, HGNC:HGNC:28910, HumanCyc Gene:HS14195, ModBase:Q96HB5, NCBI Gene:90060, RefSeq DNA:NG_016255, RefSeq DNA:NT_079573, RefSeq Protein:NP_001156793, RefSeq Protein:NP_001156794, RefSeq Protein:NP_001156795, RefSeq Protein:NP_296375, RefSeq RNA:NM_001163321, RefSeq RNA:NM_001163322, RefSeq RNA:NM_001163323, RefSeq RNA:NM_033626, UniProtKB:A8K5Q5, UniProtKB:B4DF24, UniProtKB:B4DFC1, UniProtKB:B4DTU2, UniProtKB:Q96HB5 No chrX 48910961 48927510 49053432 49069858 +PA147358222 79635 HGNC:25833 ENSG00000176714 coiled-coil domain containing 121 CCDC121 FLJ13646, FLJ43364 Yes No Comparative Toxicogenomics Database:79635, Ensembl:ENSG00000176714, GeneCard:CCDC121, HGNC:HGNC:25833, ModBase:Q6ZUS5, NCBI Gene:79635, RefSeq DNA:NT_022184, RefSeq Protein:NP_001136154, RefSeq Protein:NP_001136155, RefSeq Protein:NP_078860, RefSeq RNA:NM_001142682, RefSeq RNA:NM_001142683, RefSeq RNA:NM_024584, UniProtKB:Q6ZUS5 No chr2 27848408 27851898 27625638 27629031 +PA147358230 160857 HGNC:26478 ENSG00000151773 coiled-coil domain containing 122 CCDC122 FLJ31846 Yes No Ensembl:ENSG00000151773, GeneCard:CCDC122, HGNC:HGNC:26478, HumanCyc Gene:HS14388, ModBase:Q5T0U0, NCBI Gene:160857, OMIM:613408, RefSeq DNA:NT_024524, RefSeq Protein:NP_659411, RefSeq RNA:NM_144974, UniProtKB:Q5T0U0 No chr13 44410488 44453826 43821959 43879690 +PA147358292 115098 HGNC:25171 ENSG00000007080 coiled-coil domain containing 124 CCDC124 Lso2, oxs1 Yes No Comparative Toxicogenomics Database:115098, Ensembl:ENSG00000007080, GeneCard:CCDC124, HGNC:HGNC:25171, HumanCyc Gene:HS12018, ModBase:Q96CT7, NCBI Gene:115098, RefSeq DNA:NT_011295, RefSeq Protein:NP_001129675, RefSeq Protein:NP_612451, RefSeq RNA:NM_001136203, RefSeq RNA:NM_138442, UniProtKB:Q96CT7 No chr19 18043824 18054794 17933015 17943985 +PA147358306 202243 HGNC:28924 ENSG00000183323 coiled-coil domain containing 125 CCDC125 KENAE Yes No Ensembl:ENSG00000183323, GeneCard:CCDC125, HGNC:HGNC:28924, ModBase:Q86Z20, NCBI Gene:202243, RefSeq DNA:NT_006713, RefSeq Protein:NP_789786, RefSeq RNA:NM_176816, UniProtKB:Q86Z20 No chr5 68576519 68628623 69273087 69333069 +PA162381284 90693 HGNC:22398 ENSG00000169193 coiled-coil domain containing 126 CCDC126 FLJ23031 Yes No Ensembl:ENSG00000169193, GeneCard:CCDC126, HGNC:HGNC:22398, HumanCyc Gene:HS15756, NCBI Gene:90693, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_620126, RefSeq RNA:NM_138771, UniProtKB:Q96EE4 No chr7 23636998 23684327 23597333 23644708 +PA162381297 133957 HGNC:30520 ENSG00000164366 coiled-coil domain containing 127 CCDC127 FLJ25701 Yes No Ensembl:ENSG00000164366, GeneCard:CCDC127, HGNC:HGNC:30520, HumanCyc Gene:HS15190, ModBase:Q96BQ5, NCBI Gene:133957, RefSeq DNA:NT_006576, RefSeq Protein:NP_660308, RefSeq RNA:NM_145265, UniProtKB:Q96BQ5 No chr5 204875 218333 204760 218182 +PA134974073 152206 HGNC:26358 ENSG00000244607 coiled-coil domain containing 13 CCDC13 FLJ25467 Yes No Ensembl:ENSG00000244607, GeneCard:CCDC13, HGNC:HGNC:26358, HumanCyc Gene:HS14651, ModBase:Q8IYE1, NCBI Gene:152206, RefSeq DNA:NT_022517, RefSeq Protein:NP_653320, RefSeq RNA:NM_144719, UniProtKB:Q8IYE1 No chr3 42749764 42814745 42704118 42773253 +PA162381361 79879 HGNC:26185 ENSG00000100147 coiled-coil domain containing 134 CCDC134 FLJ22349 Yes No Ensembl:ENSG00000100147, GeneCard:CCDC134, HGNC:HGNC:26185, HumanCyc Gene:HS12391, ModBase:Q9H6E4, NCBI Gene:79879, RefSeq DNA:NT_011520, RefSeq Protein:NP_079097, RefSeq RNA:NM_024821, UniProtKB:Q9H6E4 No chr22 42196636 42228175 41800610 41832164 +PA162381381 64753 HGNC:22225 ENSG00000128596 coiled-coil domain containing 136 CCDC136 DKFZP434G156, KIAA1793, NAG6 Yes No Ensembl:ENSG00000128596, GeneCard:CCDC136, HGNC:HGNC:22225, NCBI Gene:64753, OMIM:611902, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001188301, RefSeq Protein:NP_073579, RefSeq RNA:NM_001201372, RefSeq RNA:NM_022742, UniProtKB:Q96JN2 No chr7 128431464 128462187 128791410 128822133 +PA162381422 339230 HGNC:33451 ENSG00000185298 coiled-coil domain containing 137 CCDC137 MGC16597 Yes No Ensembl:ENSG00000185298, GeneCard:CCDC137, HGNC:HGNC:33451, ModBase:Q6PK04, NCBI Gene:339230, RefSeq DNA:NT_010783, RefSeq Protein:NP_954981, RefSeq RNA:NM_199287, UniProtKB:Q6PK04 No chr17 79633761 79640937 81666697 81673907 +PA162381439 165055 HGNC:26531 ENSG00000163006 coiled-coil domain containing 138 CCDC138 FLJ32745 Yes No Ensembl:ENSG00000163006, GeneCard:CCDC138, HGNC:HGNC:26531, HumanCyc Gene:HS15003, ModBase:Q96M89, NCBI Gene:165055, RefSeq DNA:NT_022171, RefSeq Protein:NP_659415, RefSeq RNA:NM_144978, UniProtKB:Q96M89 No chr2 109403208 109493047 108786730 108885485 +PA134990564 64770 HGNC:25766 ENSG00000175455 coiled-coil domain containing 14 CCDC14 DKFZp434L1050, FLJ12892 Yes No Ensembl:ENSG00000175455, GeneCard:CCDC14, HGNC:HGNC:25766, HumanCyc Gene:HS10933, NCBI Gene:64770, RefSeq DNA:NT_005612, RefSeq Protein:NP_073594, RefSeq RNA:NM_022757, UniProtKB:Q49A88 No chr3 123616152 123680255 123887383 123961412 +PA162381440 151278 HGNC:26514 ENSG00000163081 coiled-coil domain containing 140 CCDC140 FLJ32447 Yes No Ensembl:ENSG00000163081, GeneCard:CCDC140, HGNC:HGNC:26514, HumanCyc Gene:HS15018, ModBase:Q96MF4, NCBI Gene:151278, RefSeq DNA:NG_021186, RefSeq DNA:NT_005403, RefSeq Protein:NP_694583, RefSeq RNA:NM_153038, UniProtKB:Q96MF4 No chr2 223162866 223169936 222298147 222305217 +PA162381449 285025 HGNC:26821 ENSG00000163492 coiled-coil domain containing 141 CCDC141 coiled-coil protein associated with myosin II and DISC1 CAMDI, FLJ39502 Yes No Ensembl:ENSG00000163492, GeneCard:CCDC141, HGNC:HGNC:26821, HumanCyc Gene:HS15070, ModBase:Q6ZP82, NCBI Gene:285025, RefSeq DNA:NT_005403, RefSeq Protein:NP_775919, RefSeq RNA:NM_173648, UniProtKB:Q6ZP82 No chr2 179694484 179914841 178825308 179050134 +PA162381450 84865 HGNC:25889 ENSG00000135637 coiled-coil domain containing 142 CCDC142 FLJ14397 Yes No Ensembl:ENSG00000135637, GeneCard:CCDC142, HGNC:HGNC:25889, NCBI Gene:84865, RefSeq DNA:NT_022184, RefSeq Protein:NP_116168, RefSeq RNA:NM_032779, UniProtKB:Q17RM4 No chr2 74699959 74710357 74472832 74483230 +PA162381473 9720 HGNC:29072 ENSG00000170160 coiled-coil domain containing 144A CCDC144A FLJ43983, KIAA0565 Yes No Ensembl:ENSG00000170160, GeneCard:CCDC144A, HGNC:HGNC:29072, ModBase:A2RUR9, NCBI Gene:9720, RefSeq DNA:NT_010718, RefSeq Protein:NP_055510, RefSeq RNA:NM_014695, UniProtKB:A2RUR9 No chr17 16593549 16678311 16666768 16774999 +PA162381474 284047 HGNC:26704 ENSG00000154874 coiled-coil domain containing 144B (pseudogene) CCDC144B FLJ36492 Yes No Ensembl:ENSG00000154874, GeneCard:CCDC144B, HGNC:HGNC:26704, ModBase:Q3MJ40, NCBI Gene:284047, RefSeq DNA:NT_010718, RefSeq Protein:NP_872374, RefSeq RNA:NM_182568, RefSeq RNA:NR_036647, UniProtKB:Q3MJ40 No chr17 18441114 18528930 18537800 18625617 +PA164717677 339184 HGNC:33735 ENSG00000205212 coiled-coil domain containing 144 family, N-terminal like CCDC144NL MGC87631 Yes No Ensembl:ENSG00000205212, GeneCard:CCDC144NL, HGNC:HGNC:33735, NCBI Gene:339184, RefSeq DNA:NT_010718, RefSeq DNA:NT_079592, RefSeq Protein:NP_001004306, RefSeq RNA:NM_001004306, UniProtKB:Q6NUI1 No chr17 20766708 20799453 20847348 20896587 +PA162381475 57639 HGNC:29296 ENSG00000135205 coiled-coil domain containing 146 CCDC146 KIAA1505, MBO2 Yes No Ensembl:ENSG00000135205, GeneCard:CCDC146, HGNC:HGNC:29296, ModBase:Q8IYE0, NCBI Gene:57639, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_065930, RefSeq RNA:NM_020879, UniProtKB:Q8IYE0, UniProtKB:Q96MS1 No chr7 76751934 76924534 77122617 77295204 +PA162381559 130940 HGNC:25191 ENSG00000153237 coiled-coil domain containing 148 CCDC148 MGC125588 Yes Yes Ensembl:ENSG00000153237, GeneCard:CCDC148, HGNC:HGNC:25191, HumanCyc Gene:HS14462, ModBase:Q96LM2, NCBI Gene:130940, RefSeq DNA:NT_005403, RefSeq Protein:NP_001165108, RefSeq Protein:NP_620158, RefSeq RNA:NM_001171637, RefSeq RNA:NM_138803, UniProtKB:Q8NFR7 No chr2 159027869 159313297 158171356 158456753 +PA162381560 91050 HGNC:25405 ENSG00000181982 coiled-coil domain containing 149 CCDC149 DKFZp761B107 Yes No Ensembl:ENSG00000181982, GeneCard:CCDC149, HGNC:HGNC:25405, HumanCyc Gene:HS17755, NCBI Gene:91050, RefSeq DNA:NT_006316, RefSeq Protein:NP_001124198, RefSeq Protein:NP_775734, RefSeq RNA:NM_001130726, RefSeq RNA:NM_173463, UniProtKB:Q6ZUS6 No chr4 24807739 24981826 24806117 24980204 +PA142672175 80071 HGNC:25798 ENSG00000149548 coiled-coil domain containing 15 CCDC15 FLJ13215 Yes No Ensembl:ENSG00000149548, GeneCard:CCDC15, HGNC:HGNC:25798, HumanCyc Gene:HS14290, ModBase:Q0P6D6, NCBI Gene:80071, RefSeq DNA:NT_033899, RefSeq Protein:NP_079280, RefSeq RNA:NM_025004, UniProtKB:Q0P6D6 No chr11 124824017 124911385 124954121 125041489 +PA162381583 284992 HGNC:26834 ENSG00000144395 coiled-coil domain containing 150 CCDC150 FLJ39660 Yes No Ensembl:ENSG00000144395, GeneCard:CCDC150, HGNC:HGNC:26834, HumanCyc Gene:HS14018, ModBase:Q8NCX0, NCBI Gene:284992, RefSeq DNA:NT_005403, RefSeq Protein:NP_001074008, RefSeq RNA:NM_001080539, UniProtKB:Q8NCX0 No chr2 197504278 197597530 196639632 196733668 +PA162381615 100129792 HGNC:34438 ENSG00000198865 coiled-coil domain containing 152 CCDC152 LOC100129792 Yes No Ensembl:ENSG00000198865, GeneCard:CCDC152, HGNC:HGNC:34438, NCBI Gene:100129792, RefSeq DNA:NT_006576, RefSeq Protein:NP_001128320, RefSeq RNA:NM_001134848, UniProtKB:Q4G0S7 No chr5 42756920 42802539 42756818 42802437 +PA162381640 645811 HGNC:34454 ENSG00000197599 coiled-coil domain containing 154 CCDC154 C16orf29, LOC645811 Yes No Ensembl:ENSG00000197599, GeneCard:CCDC154, HGNC:HGNC:34454, NCBI Gene:645811, RefSeq DNA:NT_010393, RefSeq Protein:NP_001137452, RefSeq RNA:NM_001143980 No chr16 1484389 1494490 1434388 1444489 +PA164717678 550631 HGNC:33854 ENSG00000187860 coiled-coil domain containing 157 CCDC157 Yes No Ensembl:ENSG00000187860, GeneCard:CCDC157, HGNC:HGNC:33854, NCBI Gene:550631, RefSeq DNA:NT_011520, RefSeq Protein:NP_001017437, RefSeq RNA:NM_001017437, UniProtKB:Q569K6 No chr22 30752627 30772818 30356635 30378655 +PA164717707 339965 HGNC:26374 ENSG00000163749 coiled-coil domain containing 158 CCDC158 FLJ25770 Yes No Ensembl:ENSG00000163749, GeneCard:CCDC158, HGNC:HGNC:26374, NCBI Gene:339965, RefSeq DNA:NT_016354, RefSeq Protein:NP_001036249, RefSeq RNA:NM_001042784, UniProtKB:Q5M9N0 No chr4 77234192 77333285 76313039 76421920 +PA165393298 126075 HGNC:26996 ENSG00000183401 coiled-coil domain containing 159 CCDC159 Yes No Ensembl:ENSG00000183401, GeneCard:CCDC159, HGNC:HGNC:26996, NCBI Gene:126075, RefSeq DNA:NT_011295, RefSeq Protein:NP_001073972, RefSeq RNA:NM_001080503 No chr19 11457160 11465620 11346340 11354951 +PA165756450 347475 HGNC:37286 ENSG00000203952 coiled-coil domain containing 160 CCDC160 Yes No Ensembl:ENSG00000203952, GeneCard:CCDC160, HGNC:HGNC:37286, NCBI Gene:347475, RefSeq DNA:NT_011786, RefSeq Protein:NP_001094827, RefSeq RNA:NM_001101357, UniProtKB:A6NGH7 No chrX 133371077 133380237 134237047 134246207 +PA134874211 221262 HGNC:21565 ENSG00000203799 coiled-coil domain containing 162, pseudogene CCDC162P C6orf183, C6orf184, bA425D10.3, bA425D10.7 Yes No Ensembl:ENSG00000203799, HGNC:HGNC:21565, NCBI Gene:221262, RefSeq DNA:NT_025741, RefSeq Protein:XP_003118955, RefSeq Protein:XP_003118956, RefSeq Protein:XP_003118957, RefSeq RNA:NR_028595, RefSeq RNA:XM_003118907, RefSeq RNA:XM_003118908, RefSeq RNA:XM_003118909, RefSeq RNA:XM_168055, RefSeq RNA:XM_927151, RefSeq RNA:XM_940420, RefSeq RNA:XM_944583, RefSeq RNA:XR_039946, RefSeq RNA:XR_039947, RefSeq RNA:XR_039948 No chr6 109615506 109629423 109294303 109308220 +PA166180582 126661 HGNC:27003 ENSG00000280670 CCDC163 homolog CCDC163 coiled-coil domain containing 163 C1orf231, CCDC163P, LOC126661 Yes No Ensembl:ENSG00000280670, HGNC:HGNC:27003, NCBI Gene:126661 No 0 0 0 0 +PA166049076 100130274 HGNC:41910 ENSG00000255181 coiled-coil domain containing 166 CCDC166 Yes No Ensembl:ENSG00000255181, HGNC:HGNC:41910, NCBI Gene:100130274 No chr8 144788864 144790279 143706694 143708109 +PA134900129 154467 HGNC:21239 ENSG00000198937 coiled-coil domain containing 167 CCDC167 C6orf129, dJ153P14.2 Yes No Ensembl:ENSG00000198937, GeneCard:C6orf129, HGNC:HGNC:21239, NCBI Gene:154467, RefSeq DNA:NT_007592, RefSeq Protein:NP_612502, RefSeq RNA:NM_138493, UniProtKB:Q9P0B6 No chr6 37450696 37467700 37482920 37499924 +PA165505081 643677 HGNC:26851 ENSG00000175820 coiled-coil domain containing 168 CCDC168 C13orf40, FLJ40176 Yes No Ensembl:ENSG00000175820, GeneCard:CCDC168, HGNC:HGNC:26851, NCBI Gene:643677, RefSeq DNA:NT_009952, RefSeq Protein:NP_001139669, RefSeq Protein:XP_002344126, RefSeq Protein:XP_002344782, RefSeq Protein:XP_002347449, RefSeq RNA:NM_001146197, RefSeq RNA:XM_002344085, RefSeq RNA:XM_002344741, RefSeq RNA:XM_002347408 No chr13 103381717 103411422 102729367 102759072 +PA162378105 728591 HGNC:34361 ENSG00000242715 coiled-coil domain containing 169 CCDC169 C13orf38, LOC728591, RP11-251J8.1 Yes No Ensembl:ENSG00000242715, GeneCard:CCDC169, HGNC:HGNC:34361, NCBI Gene:728591, RefSeq DNA:NT_024524, RefSeq Protein:NP_001138453, RefSeq Protein:NP_001138454, RefSeq Protein:NP_001138455, RefSeq Protein:NP_001138456, RefSeq Protein:NP_001138457, RefSeq Protein:NP_001138458, RefSeq Protein:NP_001185837, RefSeq RNA:NM_001144981, RefSeq RNA:NM_001144982, RefSeq RNA:NM_001144983, RefSeq RNA:NM_001144984, RefSeq RNA:NM_001144985, RefSeq RNA:NM_001144986, RefSeq RNA:NM_001198908, UniProtKB:A6NNP5, UniProtKB:B7ZW45, UniProtKB:B7ZW49 No chr13 36801179 36871992 36227042 36297855 +PA142672177 149483 HGNC:26574 ENSG00000159588 coiled-coil domain containing 17 CCDC17 FLJ33084 Yes No Comparative Toxicogenomics Database:149483, Ensembl:ENSG00000159588, GeneCard:CCDC17, HGNC:HGNC:26574, HumanCyc Gene:HS14764, ModBase:Q96LX7, NCBI Gene:149483, RefSeq DNA:NT_032977, RefSeq Protein:NP_001108410, RefSeq Protein:NP_001177111, RefSeq RNA:NM_001114938, RefSeq RNA:NM_001190182 No chr1 46085716 46090424 45620044 45624787 +PA134876442 80129 HGNC:21177 ENSG00000120262 coiled-coil domain containing 170 CCDC170 C6orf97, FLJ23305, bA282P11.1 Yes No Ensembl:ENSG00000120262, GeneCard:C6orf97, HGNC:HGNC:21177, HumanCyc Gene:HS12981, ModBase:Q8IYT3, NCBI Gene:80129, RefSeq DNA:NG_021198, RefSeq DNA:NT_025741, RefSeq Protein:NP_079335, RefSeq RNA:NM_025059, UniProtKB:Q8IYT3 No chr6 151815175 151942328 151494040 151621193 +PA134921892 203238 HGNC:29828 ENSG00000164989 coiled-coil domain containing 171 CCDC171 myosin tail domain containing protein C9orf93, Em:AL513423.1, FLJ39267, FLJ46740, bA536D16.1, bA778P13.1 Yes No Ensembl:ENSG00000164989, GeneCard:C9orf93, HGNC:HGNC:29828, HumanCyc Gene:HS15272, ModBase:Q6TFL3, NCBI Gene:203238, RefSeq DNA:NT_008413, RefSeq Protein:NP_775821, RefSeq RNA:NM_173550, UniProtKB:Q6TFL3 No chr9 15552872 15971897 15552874 16062431 +PA134867240 374355 HGNC:30524 ENSG00000182645 coiled-coil domain containing 172 CCDC172 C10orf96, MGC35062 Yes No Ensembl:ENSG00000182645, GeneCard:C10orf96, HGNC:HGNC:30524, ModBase:P0C7W6, NCBI Gene:374355, RefSeq DNA:NT_030059, RefSeq Protein:NP_940917, RefSeq RNA:NM_198515, UniProtKB:P0C7W6 No chr10 118083940 118139541 116324097 116380029 +PA134914840 51244 HGNC:28033 ENSG00000154781 coiled-coil domain containing 174 CCDC174 C3orf19, FLJ33839, ctr1 Yes No Ensembl:ENSG00000154781, GeneCard:C3orf19, HGNC:HGNC:28033, HumanCyc Gene:HS14535, ModBase:Q6PII3, NCBI Gene:51244, RefSeq DNA:NT_022517, RefSeq Protein:NP_057558, RefSeq RNA:NM_016474, UniProtKB:Q6PII3 No chr3 14693253 14714166 14651683 14673186 +PA134933838 729665 HGNC:19847 ENSG00000151838 coiled-coil domain containing 175 CCDC175 C14orf38 Yes No Ensembl:ENSG00000151838, GeneCard:C14orf38, HGNC:HGNC:19847, ModBase:P0C221, NCBI Gene:729665, RefSeq DNA:NT_026437, RefSeq Protein:NP_001157871, RefSeq Protein:XP_001723767, RefSeq Protein:XP_001726996, RefSeq Protein:XP_001727002, RefSeq RNA:NM_001164399, RefSeq RNA:XM_001723715, RefSeq RNA:XM_001726944, RefSeq RNA:XM_001726950 No chr14 59971785 60043549 59504212 59577276 +PA134892125 56936 HGNC:23243 ENSG00000267909 coiled-coil domain containing 177 CCDC177 myelin proteolipid protein-like protein C14orf162, PLPL Yes No Ensembl:ENSG00000267909, GeneCard:C14orf162, HGNC:HGNC:23243, NCBI Gene:56936, RefSeq DNA:NT_026437, RefSeq RNA:NR_024630 No chr14 70036531 70041600 69569814 69574883 +PA134979792 374864 HGNC:29588 ENSG00000166960 coiled-coil domain containing 178 CCDC178 C18orf34, FLJ44050 Yes No Ensembl:ENSG00000166960, GeneCard:C18orf34, HGNC:HGNC:29588, ModBase:Q5BJE1, NCBI Gene:374864, RefSeq DNA:NT_010966, RefSeq Protein:NP_001098998, RefSeq Protein:NP_945346, RefSeq RNA:NM_001105528, RefSeq RNA:NM_198995, UniProtKB:A1L4G8, UniProtKB:Q5BJE1 No chr18 30517225 31020685 32937402 33441040 +PA166049149 100500938 HGNC:44653 ENSG00000255359 coiled-coil domain containing 179 CCDC179 Yes No Ensembl:ENSG00000255359, HGNC:HGNC:44653, NCBI Gene:100500938 No chr11 22868468 22881972 22846922 22860971 +PA142672178 343099 HGNC:30370 ENSG00000122483 coiled-coil domain containing 18 CCDC18 NY-SAR-41 Yes No Ensembl:ENSG00000122483, GeneCard:CCDC18, HGNC:HGNC:30370, ModBase:Q5T9S5, NCBI Gene:343099, RefSeq DNA:NT_032977, RefSeq Protein:NP_996769, RefSeq RNA:NM_206886, UniProtKB:Q5T9S5, UniProtKB:Q6PH87, UniProtKB:Q7Z659 No chr1 93646038 93744769 93179802 93279037 +PA165585576 100499483 HGNC:29303 ENSG00000197816 coiled-coil domain containing 180 CCDC180 Behcet's Disease Associated Gene 1 BDAG1, C9orf174, CFAP76, DKFZp434I2420, FAP76, KIAA1529 Yes No Comparative Toxicogenomics Database:57653, Ensembl:ENSG00000197816, GeneCard:C9orf174, HGNC:HGNC:29303, ModBase:Q9P1Z9, NCBI Gene:100499483, RefSeq DNA:NT_008470, RefSeq Protein:NP_065944, RefSeq RNA:NM_020893, RefSeq RNA:NR_036527, RefSeq RNA:NR_036528, RefSeq RNA:NR_036529, UniProtKB:Q9P1Z9 No chr9 100069910 100139577 97307628 97377295 +PA142672498 57821 HGNC:28051 ENSG00000117477 coiled-coil domain containing 181 CCDC181 C1orf114, FLJ25846 Yes No Ensembl:ENSG00000117477, GeneCard:C1orf114, HGNC:HGNC:28051, HumanCyc Gene:HS12895, NCBI Gene:57821, RefSeq DNA:NT_004487, RefSeq Protein:NP_067002, RefSeq RNA:NM_021179, UniProtKB:Q5TID7 No chr1 169364108 169429907 169394870 169462221 +PA166123675 101927581 HGNC:49392 ENSG00000166329 coiled-coil domain containing 182 CCDC182 Yes No Ensembl:ENSG00000166329, HGNC:HGNC:49392, NCBI Gene:101927581 No +PA134944889 84960 HGNC:28236 ENSG00000213213 coiled-coil domain containing 183 CCDC183 KIAA1984, MGC15438, bA216L13.7 Yes No Ensembl:ENSG00000213213, GeneCard:KIAA1984, HGNC:HGNC:28236, HumanCyc Gene:HS15356, ModBase:Q5T5S1, NCBI Gene:84960, RefSeq DNA:NT_024000, RefSeq Protein:NP_001034463, RefSeq RNA:NM_001039374, UniProtKB:Q5T5S1 No chr9 139690033 139702364 136796338 136807741 +PA162377998 387856 HGNC:33749 ENSG00000177875 coiled-coil domain containing 184 CCDC184 chromosome 12 open reading frame 68 C12orf68, LOC387856 Yes No Ensembl:ENSG00000177875, GeneCard:C12orf68, HGNC:HGNC:33749, NCBI Gene:387856, RefSeq DNA:NT_029419, RefSeq Protein:NP_001013657, RefSeq RNA:NM_001013635, UniProtKB:Q52MB2 No chr12 48577366 48579709 48183583 48185926 +PA142672515 164127 HGNC:26654 ENSG00000178395 coiled-coil domain containing 185 CCDC185 chromosome 1 open reading frame 65 C1orf65, FLJ35728 Yes No Ensembl:ENSG00000178395, GeneCard:C1orf65, HGNC:HGNC:26654, HumanCyc Gene:HS17043, ModBase:Q8N715, NCBI Gene:164127, RefSeq DNA:NT_167186, RefSeq Protein:NP_689823, RefSeq RNA:NM_152610, UniProtKB:Q8N715 No chr1 223566715 223568812 223393373 223395470 +PA134904295 55088 HGNC:24349 ENSG00000165813 coiled-coil domain containing 186 CCDC186 chromosome 10 open reading frame 118 C10orf118, CCCP-1, FLJ10188, FLJ35301, golgin104 Yes No Ensembl:ENSG00000165813, GeneCard:C10orf118, HGNC:HGNC:24349, HumanCyc Gene:HS15370, ModBase:Q7Z3E2, NCBI Gene:55088, RefSeq DNA:NT_030059, RefSeq Protein:NP_060487, RefSeq RNA:NM_018017, UniProtKB:Q7Z3E2 No chr10 115880615 115934364 114120862 114174312 +PA166180583 399693 HGNC:30942 ENSG00000260220 coiled-coil domain containing 187 CCDC187 MGC50722 Yes No Ensembl:ENSG00000260220, HGNC:HGNC:30942, NCBI Gene:399693 No 0 0 0 0 +PA166180584 388849 HGNC:51899 ENSG00000234409 coiled-coil domain containing 188 CCDC188 Yes No Ensembl:ENSG00000234409, HGNC:HGNC:51899, NCBI Gene:388849 No 0 0 0 0 +PA142672494 339512 HGNC:28736 ENSG00000185860 coiled-coil domain containing 190 CCDC190 chromosome 1 open reading frame 110 C1orf110, MGC48998 Yes No Ensembl:ENSG00000185860, GeneCard:C1orf110, HGNC:HGNC:28736, ModBase:Q86UF4, NCBI Gene:339512, RefSeq DNA:NT_004487, RefSeq Protein:NP_848645, RefSeq RNA:NM_178550, UniProtKB:Q86UF4 No chr1 162820766 162838605 162851291 162868918 +PA134916748 57577 HGNC:29272 ENSG00000163617 coiled-coil domain containing 191 CCDC191 KIAA1407 Yes No Ensembl:ENSG00000163617, GeneCard:KIAA1407, HGNC:HGNC:29272, HumanCyc Gene:HS15089, ModBase:Q8NCU4, NCBI Gene:57577, RefSeq DNA:NT_005612, RefSeq Protein:NP_065868, RefSeq RNA:NM_020817, UniProtKB:Q8NCU4 No chr3 113682984 113775460 113964137 114056674 +PA166180585 728586 HGNC:49566 ENSG00000230561 coiled-coil domain containing 192 CCDC192 LINC01183 Yes No Ensembl:ENSG00000230561, HGNC:HGNC:49566, NCBI Gene:728586 No 0 0 0 0 +PA166180586 110806280 HGNC:53438 ENSG00000269720 coiled-coil domain containing 194 CCDC194 Yes No Ensembl:ENSG00000269720, HGNC:HGNC:53438, NCBI Gene:110806280 No 0 0 0 0 +PA166180587 110806281 HGNC:53441 ENSG00000283428 coiled-coil domain containing 195 CCDC195 Yes No Ensembl:ENSG00000283428, HGNC:HGNC:53441, NCBI Gene:110806281 No 0 0 0 0 +PA165479209 440184 HGNC:20100 ENSG00000196553 coiled-coil domain containing 196 CCDC196 long intergenic non-protein coding RNA 238 C14orf53, LINC00238, NCRNA00238 Yes No Ensembl:ENSG00000196553, GeneCard:NCRNA00238, HGNC:HGNC:20100, NCBI Gene:440184, RefSeq DNA:NT_026437, RefSeq RNA:NR_024338, RefSeq RNA:NR_024339, RefSeq RNA:XR_041746, RefSeq RNA:XR_041747, RefSeq RNA:XR_041748 No chr14 66953109 66965271 66486371 66498553 +PA134880534 256369 HGNC:19860 ENSG00000175699 coiled-coil domain containing 197 CCDC197 long intergenic non-protein coding RNA 521 C14orf48, LINC00521 Yes No Ensembl:ENSG00000175699, GeneCard:C14orf48, HGNC:HGNC:19860, HumanCyc Gene:HS16490, ModBase:Q8NCU1, NCBI Gene:256369, RefSeq DNA:NT_026437, RefSeq RNA:NR_024182, RefSeq RNA:NR_024183, RefSeq RNA:NR_024184 No chr14 94463616 94478041 93997270 94011695 +PA134868494 55195 HGNC:20189 ENSG00000100557 coiled-coil domain containing 198 CCDC198 Factor Associated with Metabolism and Energy, chromosome 14 open reading frame 105 C14orf105, FAME, FLJ10650 Yes No Comparative Toxicogenomics Database:55195, Ensembl:ENSG00000100557, GeneCard:C14orf105, HGNC:HGNC:20189, HumanCyc Gene:HS12414, NCBI Gene:55195, RefSeq DNA:NT_026437, RefSeq Protein:NP_060638, RefSeq RNA:NM_018168, UniProtKB:Q9NVL8 No chr14 57936595 57960581 57469300 57493980 +PA166182665 100874261 HGNC:43658 ENSG00000236383 coiled-coil domain containing 200 CCDC200 LINC00854, TMEM106A-AS1 Yes No Ensembl:ENSG00000236383, HGNC:HGNC:43658, NCBI Gene:100874261 No 0 0 0 0 +PA166182666 114515518 HGNC:54081 ENSG00000283247 coiled-coil domain containing 201 CCDC201 Yes No Ensembl:ENSG00000283247, HGNC:HGNC:54081, NCBI Gene:114515518 No 0 0 0 0 +PA134947763 28952 HGNC:28909 ENSG00000101997 coiled-coil domain containing 22 CCDC22 CXorf37, JM1 Yes Yes Comparative Toxicogenomics Database:28952, Ensembl:ENSG00000101997, GeneCard:CCDC22, HGNC:HGNC:28909, HumanCyc Gene:HS12473, ModBase:O60826, NCBI Gene:28952, RefSeq DNA:NG_021311, RefSeq DNA:NT_079573, RefSeq Protein:NP_054727, RefSeq RNA:NM_014008, UniProtKB:O60826 No chrX 49091927 49106987 49235467 49250526 +PA142672182 149473 HGNC:28688 ENSG00000159214 coiled-coil domain containing 24 CCDC24 MGC45441 Yes No Ensembl:ENSG00000159214, GeneCard:CCDC24, HGNC:HGNC:28688, HumanCyc Gene:HS14746, ModBase:Q8N4L8, NCBI Gene:149473, RefSeq DNA:NT_032977, RefSeq Protein:NP_689712, RefSeq RNA:NM_152499, UniProtKB:Q8N4L8 No chr1 44457280 44462200 43991247 43996528 +PA142672183 55246 HGNC:25591 ENSG00000147419 coiled-coil domain containing 25 CCDC25 FLJ10853 Yes No Comparative Toxicogenomics Database:55246, Ensembl:ENSG00000147419, GeneCard:CCDC25, HGNC:HGNC:25591, HumanCyc Gene:HS14205, NCBI Gene:55246, RefSeq DNA:NT_167187, RefSeq Protein:NP_060716, RefSeq RNA:NM_018246, UniProtKB:Q86WR0 No chr8 27590833 27630170 27733316 27772656 +PA142672184 137196 HGNC:28416 ENSG00000229140 coiled-coil domain containing 26 CCDC26 retinoic acid modulator MGC27434, RAM Yes No Ensembl:ENSG00000229140, GeneCard:CCDC26, HGNC:HGNC:28416, NCBI Gene:137196, OMIM:613040, RefSeq DNA:NT_008046, RefSeq Protein:NP_659487, RefSeq RNA:NM_145050 No chr8 +PA142672185 148870 HGNC:26546 ENSG00000162592 coiled-coil domain containing 27 CCDC27 FLJ32825 Yes No Ensembl:ENSG00000162592, GeneCard:CCDC27, HGNC:HGNC:26546, HumanCyc Gene:HS14938, ModBase:Q2M243, NCBI Gene:148870, RefSeq DNA:NT_004350, RefSeq Protein:NP_689705, RefSeq RNA:NM_152492, UniProtKB:Q2M243 No chr1 3668965 3688209 3752398 3771645 +PA134939277 25901 HGNC:21098 ENSG00000024862 coiled-coil domain containing 28A CCDC28A C6orf80, CCRL1AP, DKFZp586D0623 Yes No Comparative Toxicogenomics Database:25901, Ensembl:ENSG00000024862, GeneCard:CCDC28A, HGNC:HGNC:21098, HumanCyc Gene:HS12073, ModBase:Q8IWP9, NCBI Gene:25901, RefSeq DNA:NT_025741, RefSeq Protein:NP_056254, RefSeq RNA:NM_015439, UniProtKB:Q8IWP9 No chr6 139094657 139114456 138773517 138793319 +PA142672186 79140 HGNC:28163 ENSG00000160050 coiled-coil domain containing 28B CCDC28B MGC1203, RP4-622L5.5 Yes No Ensembl:ENSG00000160050, GeneCard:CCDC28B, HGNC:HGNC:28163, HumanCyc Gene:HS14788, NCBI Gene:79140, OMIM:610162, RefSeq DNA:NG_012178, RefSeq DNA:NT_032977, RefSeq Protein:NP_077272, RefSeq RNA:NM_024296, UniProtKB:Q9BUN5 No chr1 32666202 32670991 32200386 32205390 +PA134863738 83643 HGNC:23813 ENSG00000151468 coiled-coil domain containing 3 CCDC3 favine DKFZp761F241 Yes No Comparative Toxicogenomics Database:83643, Ensembl:ENSG00000151468, GeneCard:CCDC3, HGNC:HGNC:23813, HumanCyc Gene:HS14369, NCBI Gene:83643, RefSeq DNA:NT_008705, RefSeq Protein:NP_113643, RefSeq RNA:NM_031455, UniProtKB:Q9BQI4 No chr10 12938625 13141762 12896625 13099773 +PA165750513 728621 HGNC:26103 ENSG00000186409 coiled-coil domain containing 30 CCDC30 prefoldin 6-like FLJ20972, LOC728621, PFD6L Yes No Ensembl:ENSG00000186409, GeneCard:CCDC30, HGNC:HGNC:26103, NCBI Gene:728621, RefSeq DNA:NT_032977, RefSeq Protein:NP_001074319, RefSeq RNA:NM_001080850, UniProtKB:Q5VVM6 No chr1 43000560 43120335 42521240 42654664 +PA162378234 90416 HGNC:28295 ENSG00000128891 coiled-coil domain containing 32 CCDC32 CCDC32, chromosome 15 open reading frame 57 C15orf57, MGC20481 Yes No Ensembl:ENSG00000128891, GeneCard:C15orf57, HGNC:HGNC:28295, HumanCyc Gene:HS13282, ModBase:Q9BV29, NCBI Gene:90416, RefSeq DNA:NT_010194, RefSeq Protein:NP_001074260, RefSeq Protein:NP_001074261, RefSeq Protein:NP_443081, RefSeq RNA:NM_001080791, RefSeq RNA:NM_001080792, RefSeq RNA:NM_052849, UniProtKB:Q9BV29 No chr15 40824083 40857252 40531341 40565057 +PA142672188 80125 HGNC:26552 ENSG00000140481 coiled-coil domain containing 33 CCDC33 cancer/testis antigen 61 CC2D3, CT61, FLJ32855 Yes No Comparative Toxicogenomics Database:80125, Ensembl:ENSG00000140481, GeneCard:CCDC33, HGNC:HGNC:26552, HumanCyc Gene:HS13835, NCBI Gene:80125, RefSeq DNA:NT_010194, RefSeq Protein:NP_079331, RefSeq Protein:NP_877592, RefSeq RNA:NM_025055, RefSeq RNA:NM_182791, UniProtKB:B3KQ49, UniProtKB:Q8N5R6 No chr15 74528630 74628813 74202705 74336472 +PA142672189 91057 HGNC:25079 ENSG00000109881 coiled-coil domain containing 34 CCDC34 L15, NY-REN-41, RAMA3 Yes No Comparative Toxicogenomics Database:91057, Ensembl:ENSG00000109881, GeneCard:CCDC34, HGNC:HGNC:25079, HumanCyc Gene:HS12703, ModBase:Q96HJ3, NCBI Gene:91057, OMIM:612324, RefSeq DNA:NT_009237, RefSeq Protein:NP_110398, RefSeq Protein:NP_542385, RefSeq RNA:NM_030771, RefSeq RNA:NM_080654, UniProtKB:Q96HJ3 No chr11 27360061 27384795 27338514 27363248 +PA142672193 120935 HGNC:26843 ENSG00000165972 coiled-coil domain containing 38 CCDC38 FLJ40089 Yes No Ensembl:ENSG00000165972, GeneCard:CCDC38, HGNC:HGNC:26843, NCBI Gene:120935, RefSeq DNA:NT_029419, RefSeq Protein:NP_872302, RefSeq RNA:NM_182496, UniProtKB:Q502W7 No chr12 96260826 96336428 95867048 95943301 +PA142672194 339829 HGNC:25244 ENSG00000284862 coiled-coil domain 39 molecular ruler complex subunit CCDC39 coiled-coil domain containing 39 CFAP59, CILD14, DKFZp434A128, FAP59 Yes No Comparative Toxicogenomics Database:339829, Ensembl:ENSG00000284862, GeneCard:CCDC39, HGNC:HGNC:25244, ModBase:Q9UFE4, NCBI Gene:339829, RefSeq DNA:NT_005612, RefSeq Protein:NP_852091, RefSeq RNA:NM_181426, UniProtKB:Q9UFE4 No chr3 180331360 180397300 180614008 180679495 +PA142672195 55036 HGNC:26090 ENSG00000141519 coiled-coil domain 40 molecular ruler complex subunit CCDC40 coiled-coil domain containing 40 CFAP172, CILD15, FAP172, FLJ20753, FLJ32021, KIAA1640 Yes No Ensembl:ENSG00000141519, GeneCard:CCDC40, HGNC:HGNC:26090, HumanCyc Gene:HS13889, ModBase:Q4G0X9, NCBI Gene:55036, RefSeq DNA:NT_010783, RefSeq Protein:NP_060420, RefSeq RNA:NM_017950, UniProtKB:Q4G0X9 No chr17 78010431 78074412 80036632 80100613 +PA142672159 146849 HGNC:26528 ENSG00000161973 coiled-coil domain containing 42 CCDC42 CCDC42A, FLJ32734 Yes No Ensembl:ENSG00000161973, GeneCard:CCDC42, HGNC:HGNC:26528, HumanCyc Gene:HS14886, NCBI Gene:146849, RefSeq DNA:NT_010718, RefSeq Protein:NP_001151733, RefSeq Protein:NP_653282, RefSeq RNA:NM_001158261, RefSeq RNA:NM_144681, UniProtKB:Q96M95 No chr17 8633246 8648154 8729928 8744836 +PA142672160 124808 HGNC:26472 ENSG00000180329 coiled-coil domain containing 43 CCDC43 FLJ31795 Yes No Comparative Toxicogenomics Database:124808, Ensembl:ENSG00000180329, GeneCard:CCDC43, HGNC:HGNC:26472, HumanCyc Gene:HS17480, NCBI Gene:124808, RefSeq DNA:NT_010783, RefSeq Protein:NP_001092695, RefSeq Protein:NP_653210, RefSeq RNA:NM_001099225, RefSeq RNA:NM_144609, UniProtKB:Q96MW1 No chr17 42754805 42767355 44677437 44689797 +PA142672164 57003 HGNC:24856 ENSG00000108588 coiled-coil domain containing 47 CCDC47 Calumin GK001 Yes No Ensembl:ENSG00000108588, GeneCard:CCDC47, HGNC:HGNC:24856, HumanCyc Gene:HS12676, NCBI Gene:57003, RefSeq DNA:NT_010783, RefSeq Protein:NP_064583, RefSeq RNA:NM_020198, UniProtKB:Q96A33 No chr17 61822610 61851088 63745250 63773728 +PA25902 152137 HGNC:18111 ENSG00000152492 coiled-coil domain containing 50 CCDC50 C3orf6, DFNA44, Ymer Yes No Comparative Toxicogenomics Database:152137, Ensembl:ENSG00000152492, GenAtlas:CCDC50, GeneCard:CCDC50, HGNC:HGNC:18111, ModBase:Q8IVM0, NCBI Gene:152137, OMIM:607453, OMIM:611051, RefSeq DNA:NG_008994, RefSeq DNA:NT_005612, RefSeq Protein:NP_777568, RefSeq Protein:NP_848018, RefSeq RNA:NM_174908, RefSeq RNA:NM_178335, UCSC Genome Browser:NM_174908, UniProtKB:Q8IVM0 No chr3 191046874 191116459 191329082 191398670 +PA142672167 79714 HGNC:25714 ENSG00000164051 coiled-coil domain containing 51 CCDC51 FLJ12436 Yes No Comparative Toxicogenomics Database:79714, Ensembl:ENSG00000164051, GeneCard:CCDC51, HGNC:HGNC:25714, HumanCyc Gene:HS15143, ModBase:Q96ER9, NCBI Gene:79714, RefSeq DNA:NT_022517, RefSeq Protein:NP_078937, RefSeq RNA:NM_024661, UniProtKB:Q96ER9 No chr3 48473580 48481529 48432170 48446652 +PA142672170 84692 HGNC:30703 ENSG00000138483 coiled-coil domain containing 54 CCDC54 sperm protein 17 FLJ25362, NYD-SP17, SP17 Yes No Ensembl:ENSG00000138483, GeneCard:CCDC54, HGNC:HGNC:30703, HumanCyc Gene:HS13729, ModBase:Q8NEL0, NCBI Gene:84692, RefSeq DNA:NT_005612, RefSeq Protein:NP_115989, RefSeq RNA:NM_032600, UniProtKB:Q8NEL0 No chr3 107096188 107097481 107377341 107378634 +PA142672173 284001 HGNC:27564 ENSG00000176155 coiled-coil domain containing 57 CCDC57 FLJ00130, FLJ23754 Yes No Ensembl:ENSG00000176155, GeneCard:CCDC57, HGNC:HGNC:27564, ModBase:Q2TAC2, NCBI Gene:284001, RefSeq DNA:NT_010663, RefSeq Protein:NP_932348, RefSeq RNA:NM_198082, UniProtKB:Q2TAC2 No chr17 80059333 80170705 82101458 82212892 +PA143485412 29080 HGNC:25005 ENSG00000133773 coiled-coil domain containing 59 CCDC59 BR22, HSPC128, TAP26 Yes No Comparative Toxicogenomics Database:29080, Ensembl:ENSG00000133773, GeneCard:CCDC59, HGNC:HGNC:25005, HumanCyc Gene:HS13493, ModBase:Q9P031, NCBI Gene:29080, RefSeq DNA:NT_029419, RefSeq Protein:NP_054886, RefSeq RNA:NM_014167, RefSeq RNA:NR_033192, UniProtKB:Q9P031 No chr12 82746083 82752584 82352304 82358805 +PA134904022 8030 HGNC:18782 ENSG00000108091 coiled-coil domain containing 6 CCDC6 """DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"", ""thyroid papillary carcinoma""" D10S170, H4, PTC, PTC1, TPC, TST1 Yes No Comparative Toxicogenomics Database:8030, Ensembl:ENSG00000108091, GeneCard:CCDC6, HGNC:HGNC:18782, HumanCyc Gene:HS03062, ModBase:Q16204, NCBI Gene:8030, OMIM:188550, OMIM:601985, RefSeq DNA:NT_030059, RefSeq Protein:NP_005427, RefSeq RNA:NM_005436, UniProtKB:Q05CP8, UniProtKB:Q16204 No chr10 61548505 61666414 59788747 59906656 +PA143485413 160777 HGNC:28610 ENSG00000183273 coiled-coil domain containing 60 CCDC60 MGC39827 Yes No Ensembl:ENSG00000183273, GeneCard:CCDC60, HGNC:HGNC:28610, ModBase:Q8IWA6, NCBI Gene:160777, RefSeq DNA:NT_009775, RefSeq Protein:NP_848594, RefSeq RNA:NM_178499, UniProtKB:Q8IWA6 No chr12 119772517 119978852 119334712 119541047 +PA162381685 729440 HGNC:33629 ENSG00000104983 coiled-coil domain containing 61 CCDC61 variable flagellar number 3 homolog (C. reinhardtii) VFL3, hVFL3 Yes No Ensembl:ENSG00000104983, GeneCard:CCDC61, HGNC:HGNC:33629, NCBI Gene:729440, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073871, RefSeq RNA:NM_001080402 No chr19 46498719 46521874 45995457 46018616 +PA143485414 84660 HGNC:30723 ENSG00000130783 coiled-coil domain containing 62 CCDC62 cancer/testis antigen 109 CT109, ERAP75, FLJ40344, TSP-NY Yes No Ensembl:ENSG00000130783, GeneCard:CCDC62, HGNC:HGNC:30723, HumanCyc Gene:HS13354, ModBase:Q6P9F0, NCBI Gene:84660, OMIM:613481, RefSeq DNA:NT_009755, RefSeq Protein:NP_115962, RefSeq Protein:NP_958843, RefSeq RNA:NM_032573, RefSeq RNA:NM_201435, RefSeq RNA:NR_027918, UniProtKB:Q6P9F0 No chr12 123259056 123311927 122773621 122827385 +PA143485415 160762 HGNC:26669 ENSG00000173093 coiled-coil domain containing 63 CCDC63 outer row dynein assembly 5 homolog (Chlamydomonas) FLJ35843, ODA5 Yes No Ensembl:ENSG00000173093, GeneCard:CCDC63, HGNC:HGNC:26669, ModBase:Q8NA47, NCBI Gene:160762, RefSeq DNA:NT_009775, RefSeq Protein:NP_689804, RefSeq RNA:NM_152591, UniProtKB:Q8NA47 No chr12 111284757 111345339 110844489 110907535 +PA143485417 85478 HGNC:29937 ENSG00000139537 coiled-coil domain containing 65 CCDC65 CFAP250, CILD27, DRC2, FAP250, FLJ35732, NYD-SP28 Yes No Ensembl:ENSG00000139537, GeneCard:CCDC65, HGNC:HGNC:29937, HumanCyc Gene:HS13783, NCBI Gene:85478, OMIM:611088, RefSeq DNA:NT_029419, RefSeq Protein:NP_149115, RefSeq RNA:NM_033124, UniProtKB:Q8IXS2 No chr12 49297893 49325696 48904110 48921576 +PA143485418 285331 HGNC:27709 ENSG00000180376 coiled-coil domain containing 66 CCDC66 DKFZp686C0433 Yes No Ensembl:ENSG00000180376, GeneCard:CCDC66, HGNC:HGNC:27709, NCBI Gene:285331, RefSeq DNA:NT_022517, RefSeq Protein:NP_001012524, RefSeq Protein:NP_001135419, RefSeq RNA:NM_001012506, RefSeq RNA:NM_001141947, RefSeq RNA:NR_024460, UniProtKB:A2RUB6 No chr3 56591184 56655864 56557125 56621837 +PA143485420 80323 HGNC:24350 ENSG00000166510 coiled-coil domain containing 68 CCDC68 cutaneous T-cell lymphoma associated antigen SE57-1 Yes No Ensembl:ENSG00000166510, GeneCard:CCDC68, HGNC:HGNC:24350, HumanCyc Gene:HS15456, ModBase:Q9H2F9, NCBI Gene:80323, RefSeq DNA:NT_025028, RefSeq Protein:NP_001137301, RefSeq Protein:NP_079490, RefSeq RNA:NM_001143829, RefSeq RNA:NM_025214, UniProtKB:Q9H2F9 No chr18 52568740 52626739 54901509 54959539 +PA128394640 26112 HGNC:24487 ENSG00000198624 coiled-coil domain containing 69 CCDC69 DKFZP434C171, FLJ13705 Yes No Ensembl:ENSG00000198624, GeneCard:CCDC69, HGNC:HGNC:24487, ModBase:A6NI79, NCBI Gene:26112, RefSeq DNA:NT_029289, RefSeq Protein:NP_056436, RefSeq RNA:NM_015621, UCSC Genome Browser:NM_015621, UniProtKB:A6NI79, UniProtKB:Q7L2X4 No chr5 150560613 150603654 151181052 151224093 +PA134879457 79741 HGNC:26533, HGNC:25779 ENSG00000216937 coiled-coil domain containing 7 CCDC7 BIOT2, C10orf68, FLJ13031, FLJ32762 Yes No Ensembl:ENSG00000216937, GeneCard:C10orf68, GeneCard:CCDC7, HGNC:HGNC:26533, HGNC:HGNC:25779, HumanCyc Gene:HS14314, ModBase:Q96M83, ModBase:Q9H943, NCBI Gene:79741, RefSeq DNA:NT_008705, RefSeq Protein:NP_001021554, RefSeq Protein:NP_078964, RefSeq Protein:NP_659460, RefSeq RNA:NM_001026383, RefSeq RNA:NM_024688, RefSeq RNA:NM_145023, UniProtKB:B0QZ71, UniProtKB:Q96M83, UniProtKB:Q9H943 No chr10 32735057 33171805 32446082 32882864 +PA143485421 83446 HGNC:25303 ENSG00000123171 coiled-coil domain containing 70 CCDC70 DKFZP434K1172, FLJ25853 Yes Yes Ensembl:ENSG00000123171, GeneCard:CCDC70, HGNC:HGNC:25303, HumanCyc Gene:HS13080, ModBase:Q6NSX1, NCBI Gene:83446, RefSeq DNA:NT_024524, RefSeq Protein:NP_112580, RefSeq RNA:NM_031290, UniProtKB:Q6NSX1 No chr13 52436117 52440372 51861981 51866236 +PA143485422 64925 HGNC:25760 ENSG00000177352 coiled-coil domain containing 71 CCDC71 FLJ12800 Yes No Comparative Toxicogenomics Database:64925, Ensembl:ENSG00000177352, GeneCard:CCDC71, HGNC:HGNC:25760, HumanCyc Gene:HS11156, NCBI Gene:64925, RefSeq DNA:NT_022517, RefSeq Protein:NP_075054, RefSeq RNA:NM_022903, UniProtKB:Q8IV32 No chr3 49199968 49203785 49162535 49166352 +PA166048972 168455 HGNC:26685 ENSG00000253276 coiled-coil domain containing 71 like CCDC71L coiled-coil domain containing 71-like C7orf74, FLJ36031 Yes No Ensembl:ENSG00000253276, HGNC:HGNC:26685, NCBI Gene:168455 No chr7 106297211 106301634 106656765 106661188 +PA143485424 493860 HGNC:23261 ENSG00000186714 coiled-coil domain containing 73 CCDC73 NY-SAR-79 Yes No Ensembl:ENSG00000186714, GeneCard:CCDC73, HGNC:HGNC:23261, ModBase:Q6ZRK6, NCBI Gene:493860, OMIM:612328, RefSeq DNA:NT_009237, RefSeq Protein:NP_001008392, RefSeq RNA:NM_001008391, UniProtKB:Q6ZRK6 No chr11 32623626 32816204 32602080 32794658 +PA143485425 90557 HGNC:25197 ENSG00000163040 coiled-coil domain containing 74A CCDC74A FLJ40345 Yes No Ensembl:ENSG00000163040, GeneCard:CCDC74A, HGNC:HGNC:25197, HumanCyc Gene:HS15010, ModBase:Q96AQ1, NCBI Gene:90557, RefSeq DNA:NT_022135, RefSeq Protein:NP_620125, RefSeq RNA:NM_138770, UniProtKB:Q96AQ1 No chr2 132285248 132291239 131522621 131533666 +PA143485426 91409 HGNC:25267 ENSG00000152076 coiled-coil domain containing 74B CCDC74B DKFZp434E2321 Yes No Ensembl:ENSG00000152076, GeneCard:CCDC74B, HGNC:HGNC:25267, ModBase:Q96LY2, NCBI Gene:91409, RefSeq DNA:NT_022135, RefSeq Protein:NP_997193, RefSeq RNA:NM_207310, UniProtKB:Q96LY2 No chr2 130896856 130902707 130139283 130145134 +PA143485429 84318 HGNC:28203 ENSG00000120647 coiled-coil domain containing 77 CCDC77 MGC13183 Yes Yes Ensembl:ENSG00000120647, GeneCard:CCDC77, HGNC:HGNC:28203, HumanCyc Gene:HS12997, ModBase:Q9BR77, NCBI Gene:84318, RefSeq DNA:NT_009759, RefSeq Protein:NP_001123618, RefSeq Protein:NP_001123619, RefSeq Protein:NP_001123620, RefSeq Protein:NP_115734, RefSeq RNA:NM_001130146, RefSeq RNA:NM_001130147, RefSeq RNA:NM_001130148, RefSeq RNA:NM_032358, UniProtKB:B4DDE8, UniProtKB:Q9BR77 No chr12 498516 551811 389350 442642 +PA25539 124093 HGNC:14153 ENSG00000162004 coiled-coil domain containing 78 CCDC78 C16orf25, FLJ34512 Yes No Ensembl:ENSG00000162004, GenAtlas:CCDC78, GeneCard:CCDC78, HGNC:HGNC:14153, HumanCyc Gene:HS14891, NCBI Gene:124093, RefSeq DNA:NT_010393, RefSeq Protein:NP_001026907, RefSeq RNA:NM_001031737, UniProtKB:A2IDD5 No chr16 772582 776880 722578 726880 +PA134931534 83987 HGNC:25367 ENSG00000169515 coiled-coil domain containing 8 CCDC8 protein phosphatase 1, regulatory subunit 20 3M3, DKFZp564K0322, PPP1R20 Yes No Ensembl:ENSG00000169515, GeneCard:CCDC8, HGNC:HGNC:25367, HumanCyc Gene:HS15780, NCBI Gene:83987, RefSeq DNA:NT_011109, RefSeq Protein:NP_114429, RefSeq RNA:NM_032040, UniProtKB:Q9H0W5 No chr19 46913586 46916919 46410329 46413662 +PA144596470 151887 HGNC:30649 ENSG00000091986 coiled-coil domain containing 80 CCDC80 steroid sensitive gene 1 CL2, DRO1, LINC01279, SSG1, TCONS_00006930, URB Yes No Comparative Toxicogenomics Database:151887, Ensembl:ENSG00000091986, GeneCard:CCDC80, HGNC:HGNC:30649, ModBase:Q76M96, NCBI Gene:151887, OMIM:608298, RefSeq DNA:NT_005612, RefSeq Protein:NP_955805, RefSeq Protein:NP_955806, RefSeq RNA:NM_199511, RefSeq RNA:NM_199512, UniProtKB:Q76M96 No chr3 112323407 112359977 112604386 112641143 +PA128394704 60494 HGNC:26281 ENSG00000149201 coiled-coil domain containing 81 CCDC81 FLJ16339, FLJ23514 Yes No Ensembl:ENSG00000149201, GeneCard:CCDC81, HGNC:HGNC:26281, HumanCyc Gene:HS14270, NCBI Gene:60494, RefSeq DNA:NT_167190, RefSeq Protein:NP_001149946, RefSeq Protein:NP_068599, RefSeq RNA:NM_001156474, RefSeq RNA:NM_021827, UCSC Genome Browser:NM_021827, UniProtKB:Q6ZN84 No chr11 86085778 86134151 86374736 86423109 +PA143485431 79780 HGNC:26282 ENSG00000149231 coiled-coil domain containing 82 CCDC82 FLJ23518 Yes No Ensembl:ENSG00000149231, GeneCard:CCDC82, HGNC:HGNC:26282, HumanCyc Gene:HS14271, ModBase:Q8N4S0, NCBI Gene:79780, RefSeq DNA:NT_167190, RefSeq Protein:NP_079001, RefSeq RNA:NM_024725, UniProtKB:Q8N4S0 No chr11 96085929 96123083 96352765 96389940 +PA144596450 220047 HGNC:28535 ENSG00000150676 coiled-coil domain containing 83 CCDC83 CT148, FLJ42119, KP-CoT-23, MGC34732 Yes No Ensembl:ENSG00000150676, GeneCard:CCDC83, HGNC:HGNC:28535, HumanCyc Gene:HS14332, NCBI Gene:220047, RefSeq DNA:NT_167190, RefSeq Protein:NP_775827, RefSeq RNA:NM_173556, UniProtKB:Q8IWF9 No chr11 85566144 85631064 85855066 85920021 +PA144596452 114800 HGNC:29400 ENSG00000055813 coiled-coil domain containing 85A CCDC85A KIAA1912 Yes No Ensembl:ENSG00000055813, GeneCard:CCDC85A, HGNC:HGNC:29400, NCBI Gene:114800, RefSeq DNA:NT_022184, RefSeq Protein:NP_001073902, RefSeq RNA:NM_001080433, UniProtKB:Q96PX6 No chr2 56411258 56613309 56184123 56386174 +PA144596453 11007 HGNC:24926 ENSG00000175602 coiled-coil domain containing 85B CCDC85B hepatitis delta antigen interacting protein A DIPA Yes No Comparative Toxicogenomics Database:11007, Ensembl:ENSG00000175602, GeneCard:CCDC85B, HGNC:HGNC:24926, HumanCyc Gene:HS10961, ModBase:Q15834, NCBI Gene:11007, OMIM:605360, RefSeq DNA:NT_167190, RefSeq Protein:NP_006839, RefSeq RNA:NM_006848, UniProtKB:Q15834 No chr11 65657875 65659106 65890404 65891635 +PA164717760 317762 HGNC:35459 ENSG00000205476 coiled-coil domain containing 85C CCDC85C Yes No Ensembl:ENSG00000205476, GeneCard:CCDC85C, HGNC:HGNC:35459, NCBI Gene:317762, RefSeq DNA:NT_026437, RefSeq Protein:NP_001138467, RefSeq RNA:NM_001144995, UniProtKB:A6NKD9 No chr14 99977603 100070727 99511266 99604390 +PA144596454 79080 HGNC:28359 ENSG00000110104 coiled-coil domain containing 86 CCDC86 cytokine-induced protein with coiled-coil domain Cgr1, MGC2574, cyclon Yes No Comparative Toxicogenomics Database:79080, Ensembl:ENSG00000110104, GeneCard:CCDC86, HGNC:HGNC:28359, HumanCyc Gene:HS12715, ModBase:Q9H6F5, NCBI Gene:79080, OMIM:611293, RefSeq DNA:NT_167190, RefSeq Protein:NP_077003, RefSeq RNA:NM_024098, UniProtKB:Q9H6F5 No chr11 60609429 60618561 60841956 60851088 +PA144596455 55231 HGNC:25579 ENSG00000182791 coiled-coil domain containing 87 CCDC87 FLJ10786 Yes No Ensembl:ENSG00000182791, GeneCard:CCDC87, HGNC:HGNC:25579, NCBI Gene:55231, RefSeq DNA:NT_167190, RefSeq Protein:NP_060689, RefSeq RNA:NM_018219, UniProtKB:Q9NVE4 No chr11 66357640 66360554 66590169 66593083 +PA162381751 55704 HGNC:25523 ENSG00000115355 coiled-coil domain containing 88A CCDC88A Akt-phosphorylation enhancer, Galpha-interacting vesicle-associated protein, girders of actin filaments, girdin APE, FLJ10392, GIV, GRDN, HkRP1, KIAA1212 Yes No Ensembl:ENSG00000115355, GeneCard:CCDC88A, HGNC:HGNC:25523, HumanCyc Gene:HS12841, NCBI Gene:55704, OMIM:609736, RefSeq DNA:NT_022184, RefSeq Protein:NP_001129069, RefSeq Protein:NP_060554, RefSeq RNA:NM_001135597, RefSeq RNA:NM_018084, UniProtKB:Q3V6T2, UniProtKB:Q6DCA5, UniProtKB:Q86YH1 No chr2 55514978 55647057 55287817 55419921 +PA162381820 283234 HGNC:26757 ENSG00000168071 coiled-coil domain containing 88B CCDC88B GRP78-interacting protein induced by ER stress, brain leucine zipper protein BRLZ, CCDC88, FLJ00354, FLJ37970, GIPIE, HkRP3 Yes No Ensembl:ENSG00000168071, GeneCard:CCDC88B, HGNC:HGNC:26757, NCBI Gene:283234, OMIM:611205, RefSeq DNA:NT_167190, RefSeq Protein:NP_115627, RefSeq RNA:NM_032251, UniProtKB:A6NC98, UniProtKB:B2RTU8 No chr11 64107690 64125006 64340203 64357534 +PA162381879 440193 HGNC:19967 ENSG00000015133 coiled-coil domain containing 88C CCDC88C Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40 DAPLE, HkRP2, KIAA1509, SCA40 Yes No Ensembl:ENSG00000015133, GeneCard:CCDC88C, HGNC:HGNC:19967, ModBase:Q9P219, NCBI Gene:440193, OMIM:611204, RefSeq DNA:NT_026437, RefSeq Protein:NP_001073883, RefSeq RNA:NM_001080414, UniProtKB:Q9P219 No chr14 91737667 91884188 91271323 91418498 +PA144596457 220388 HGNC:26762 ENSG00000179071 coiled-coil domain containing 89 CCDC89 FLJ38159 Yes No Ensembl:ENSG00000179071, GeneCard:CCDC89, HGNC:HGNC:26762, HumanCyc Gene:HS17195, ModBase:Q8N998, NCBI Gene:220388, RefSeq DNA:NT_167190, RefSeq Protein:NP_689936, RefSeq RNA:NM_152723, UniProtKB:Q8N998 No chr11 85394893 85397320 85683844 85686277 +PA134946561 26093 HGNC:24560 ENSG00000105321 coiled-coil domain containing 9 CCDC9 DKFZP586M1019 Yes No Comparative Toxicogenomics Database:26093, Ensembl:ENSG00000105321, GeneCard:CCDC9, HGNC:HGNC:24560, HumanCyc Gene:HS12583, ModBase:Q9Y3X0, NCBI Gene:26093, RefSeq DNA:NT_011109, RefSeq Protein:NP_056418, RefSeq RNA:NM_015603, UniProtKB:B4DXW2, UniProtKB:Q9Y3X0 No chr19 47759731 47777329 47256474 47271958 +PA162381967 60492 HGNC:28108 ENSG00000137500 coiled-coil domain containing 90B CCDC90B MDS011, MDS025 Yes No Ensembl:ENSG00000137500, GeneCard:CCDC90B, HGNC:HGNC:28108, HumanCyc Gene:HS13685, NCBI Gene:60492, RefSeq DNA:NT_167190, RefSeq Protein:NP_068597, RefSeq RNA:NM_021825, UniProtKB:Q9GZT6 No chr11 82972498 82997445 83259093 83286407 +PA144596458 55297 HGNC:24855 ENSG00000123106 coiled-coil domain containing 91 CCDC91 GGA binding partner DKFZp779L1558, FLJ11088, p56 Yes No Comparative Toxicogenomics Database:55297, Ensembl:ENSG00000123106, GeneCard:CCDC91, HGNC:HGNC:24855, HumanCyc Gene:HS13077, ModBase:Q7Z6B0, NCBI Gene:55297, RefSeq DNA:NT_009714, RefSeq Protein:NP_060788, RefSeq RNA:NM_018318, UniProtKB:Q05D28, UniProtKB:Q7Z6B0 No chr12 28343360 28703099 28190427 28550166 +PA144596459 80212 HGNC:29563 ENSG00000119242 coiled-coil domain containing 92 CCDC92 limkain beta 2 FLJ22471 Yes No Ensembl:ENSG00000119242, GeneCard:CCDC92, HGNC:HGNC:29563, HumanCyc Gene:HS12931, ModBase:Q53HC0, NCBI Gene:80212, RefSeq DNA:NT_009755, RefSeq Protein:NP_079416, RefSeq RNA:NM_025140, UniProtKB:Q53HC0 No chr12 124420955 124457373 123936409 123972985 +PA166352383 101928991 HGNC:52279 coiled-coil domain containing 92B CCDC92B Yes No HGNC:HGNC:52279, NCBI Gene:101928991 No 0 0 0 0 +PA144596460 54520 HGNC:25611 ENSG00000125633 coiled-coil domain containing 93 CCDC93 FLJ10996 Yes No Comparative Toxicogenomics Database:54520, Ensembl:ENSG00000125633, GeneCard:CCDC93, HGNC:HGNC:25611, HumanCyc Gene:HS13170, ModBase:Q567U6, NCBI Gene:54520, RefSeq DNA:NT_022135, RefSeq Protein:NP_061917, RefSeq RNA:NM_019044, UniProtKB:Q567U6 No chr2 118673054 118771739 117915478 118014163 +PA144596464 90324 HGNC:28289 ENSG00000142039 coiled-coil domain containing 97 CCDC97 FLJ40267, MGC20255 Yes No Comparative Toxicogenomics Database:90324, Ensembl:ENSG00000142039, GeneCard:CCDC97, HGNC:HGNC:28289, HumanCyc Gene:HS13918, ModBase:Q96F63, NCBI Gene:90324, RefSeq DNA:NT_011109, RefSeq Protein:NP_443080, RefSeq RNA:NM_052848, UniProtKB:Q96F63 No chr19 41816094 41830788 41309855 41324883 +PA162378161 388115 HGNC:33488 ENSG00000188549 coiled-coil domain containing 9B CCDC9B chromosome 15 open reading frame 52 C15orf52, FLJ43339 Yes No Ensembl:ENSG00000188549, GeneCard:C15orf52, HGNC:HGNC:33488, ModBase:Q6ZUT6, NCBI Gene:388115, RefSeq DNA:NT_010194, RefSeq Protein:NP_997263, RefSeq RNA:NM_207380, UniProtKB:Q6ZUT6 No chr15 40623653 40633168 40331452 40340967 +PA142672294 196477 HGNC:28373 ENSG00000197651 coiled-coil glutamate rich protein 1 CCER1 coiled-coil glutamate-rich protein 1 C12orf12, MGC26598 Yes No Ensembl:ENSG00000197651, GeneCard:C12orf12, HGNC:HGNC:28373, ModBase:Q8TC90, NCBI Gene:196477, RefSeq DNA:NT_029419, RefSeq Protein:NP_689851, RefSeq RNA:NM_152638, UniProtKB:Q8TC90 No chr12 91345992 91348953 90952215 90955176 +PA166123676 643669 HGNC:44662 ENSG00000262484 coiled-coil glutamate rich protein 2 CCER2 coiled-coil glutamate-rich protein 2 Yes No Ensembl:ENSG00000262484, HGNC:HGNC:44662, NCBI Gene:643669 No +PA134942738 54535 HGNC:13930 ENSG00000204536, ENSG00000206457 coiled-coil alpha-helical rod protein 1 CCHCR1 C6orf18, HCR Yes Yes Comparative Toxicogenomics Database:54535, Ensembl:ENSG00000204536, Ensembl:ENSG00000206457, GeneCard:CCHCR1, HGNC:HGNC:13930, HumanCyc Gene:HS13673, ModBase:Q8TD31, NCBI Gene:54535, OMIM:605310, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001099033, RefSeq Protein:NP_001099034, RefSeq Protein:NP_061925, RefSeq RNA:NM_001105563, RefSeq RNA:NM_001105564, RefSeq RNA:NM_019052, UniProtKB:Q2TB68, UniProtKB:Q769H0, UniProtKB:Q8TD31 No chr6 31110216 31126015 31142439 31158238 +PA26140 881 HGNC:1568 ENSG00000185972 calicin CCIN BTBD20, KBTBD14 Yes No Comparative Toxicogenomics Database:881, Ensembl:ENSG00000185972, GenAtlas:CCIN, GeneCard:CCIN, HGNC:HGNC:1568, ModBase:Q13939, NCBI Gene:881, OMIM:603960, RefSeq DNA:NT_008413, RefSeq Protein:NP_005884, RefSeq RNA:NM_005893, UCSC Genome Browser:NM_005893, UniProtKB:Q13939, UniProtKB:Q8WWB2, UniProtKB:Q8WX35 No chr9 36165990 36171331 36169392 36171334 +PA26141 885 HGNC:1569 ENSG00000187094 cholecystokinin CCK cholecystokinin triacontatriapeptide, prepro-cholecystokinin Yes No Comparative Toxicogenomics Database:885, Ensembl:ENSG00000187094, GenAtlas:CCK, GeneCard:CCK, HGNC:HGNC:1569, NCBI Gene:885, OMIM:118440, RefSeq DNA:NT_022517, RefSeq Protein:NP_000720, RefSeq Protein:NP_001167609, RefSeq RNA:NM_000729, RefSeq RNA:NM_001174138, UCSC Genome Browser:NM_000729, UniProtKB:P06307, UniProtKB:Q6FG82 No chr3 42299315 42307662 42257824 42266195 +PA26142 886 HGNC:1570 ENSG00000163394 cholecystokinin A receptor CCKAR cholecystokinin type 1 receptor CCK-1R, CCK-AR, CCK1R Yes No Comparative Toxicogenomics Database:886, Ensembl:ENSG00000163394, GenAtlas:CCKAR, GeneCard:CCKAR, HGNC:HGNC:1570, HumanCyc Gene:HS08842, IUPHAR Receptor:76, ModBase:P32238, NCBI Gene:886, OMIM:118444, RefSeq DNA:NG_012053, RefSeq DNA:NT_006316, RefSeq Protein:NP_000721, RefSeq RNA:NM_000730, UCSC Genome Browser:NM_000730, UniProtKB:P32238 No chr4 26483018 26492042 26481396 26490420 +PA26143 887 HGNC:1571 ENSG00000110148 cholecystokinin B receptor CCKBR Gastrin/cholecystokinin type B receptor, cholecystokinin type 2 receptor, gastrin receptor CCK-2R, CCK-BR, CCK2R, GASR Yes Yes Comparative Toxicogenomics Database:887, Ensembl:ENSG00000110148, GenAtlas:CCKBR, GeneCard:CCKBR, HGNC:HGNC:1571, HumanCyc Gene:HS03289, IUPHAR Receptor:77, ModBase:P32239, NCBI Gene:887, OMIM:118445, RefSeq DNA:NT_009237, RefSeq Protein:NP_795344, RefSeq RNA:NM_176875, UCSC Genome Browser:NM_000731, UCSC Genome Browser:NM_176875, UniProtKB:P32239 No chr11 6280841 6293363 6259611 6272127 +PA35542 6346 HGNC:10609 ENSG00000108702 C-C motif chemokine ligand 1 CCL1 T lymphocyte-secreted protein I-309, chemokine (C-C motif) ligand 1, inflammatory cytokine I-309 I-309, P500, SCYA1, SISe, TCA3 Yes No Comparative Toxicogenomics Database:6346, Ensembl:ENSG00000108702, GenAtlas:CCL1, GeneCard:CCL1, HGNC:HGNC:10609, HumanCyc Gene:HS03146, ModBase:P22362, NCBI Gene:6346, OMIM:182281, RefSeq DNA:NT_010799, RefSeq Protein:NP_002972, RefSeq RNA:NM_002981, UCSC Genome Browser:NM_002981, UniProtKB:P22362 No chr17 32687347 32690252 34360328 34363233 +PA35543 6356 HGNC:10610 ENSG00000172156 C-C motif chemokine ligand 11 CCL11 chemokine (C-C motif) ligand 11, eotaxin-1 MGC22554, SCYA11, eotaxin Yes Yes Comparative Toxicogenomics Database:6356, Ensembl:ENSG00000172156, GenAtlas:CCL11, GeneCard:CCL11, HGNC:HGNC:10610, HumanCyc Gene:HS10458, ModBase:P51671, NCBI Gene:6356, OMIM:600807, OMIM:601156, OMIM:609423, RefSeq DNA:NG_012212, RefSeq DNA:NT_010799, RefSeq Protein:NP_002977, RefSeq RNA:NM_002986, UCSC Genome Browser:NM_002986, UniProtKB:P51671, UniProtKB:Q6I9T4 No chr17 32612687 32615199 34285668 34288180 +PA35544 6357 HGNC:10611 ENSG00000181374 C-C motif chemokine ligand 13 CCL13 chemokine (C-C motif) ligand 13 CKb10, MCP-4, MGC17134, NCC-1, SCYA13, SCYL1 Yes No Comparative Toxicogenomics Database:6357, Ensembl:ENSG00000181374, GenAtlas:CCL13, GeneCard:CCL13, HGNC:HGNC:10611, HumanCyc Gene:HS11610, ModBase:Q99616, NCBI Gene:6357, OMIM:601391, RefSeq DNA:NT_010799, RefSeq Protein:NP_005399, RefSeq RNA:NM_005408, UCSC Genome Browser:NM_005408, UniProtKB:Q99616 No chr17 32683471 32685629 34356452 34358610 +PA35545 6358 HGNC:10612 ENSG00000276409 C-C motif chemokine ligand 14 CCL14 chemokine (C-C motif) ligand 14 CKb1, HCC-1, HCC-3, MCIF, NCC-2, SCYA14, SCYL2 Yes No Ensembl:ENSG00000276409, GenAtlas:CCL14, GeneCard:CCL14, HGNC:HGNC:10612, ModBase:Q16627, NCBI Gene:6358, OMIM:601392, RefSeq DNA:NG_003025, RefSeq DNA:NT_010799, RefSeq Protein:NP_004157, RefSeq Protein:NP_116738, RefSeq Protein:NP_116739, RefSeq RNA:NM_004166, RefSeq RNA:NM_032962, RefSeq RNA:NM_032963, UCSC Genome Browser:NM_004166, UniProtKB:Q16627 No chr17 34310692 34313764 35983656 35986728 +PA35546 6359 HGNC:10613 ENSG00000275718 C-C motif chemokine ligand 15 CCL15 CC chemokine 3, MIP-1 delta, chemokine (C-C motif) ligand 15, chemokine CC-2, leukotactin 1, macrophage inflammatory protein 5 HCC-2, HMRP-2B, Lkn-1, MIP-1d, MIP-5, NCC-3, SCYA15, SCYL3 Yes No Comparative Toxicogenomics Database:6359, Ensembl:ENSG00000275718, GenAtlas:CCL15, GeneCard:CCL15, HGNC:HGNC:10613, HumanCyc Gene:HS08597, ModBase:Q16663, NCBI Gene:6359, OMIM:601393, RefSeq DNA:NG_003025, RefSeq DNA:NT_010799, RefSeq Protein:NP_004158, RefSeq Protein:NP_116740, RefSeq Protein:NP_116741, RefSeq RNA:NM_004167, RefSeq RNA:NM_032964, RefSeq RNA:NM_032965, UCSC Genome Browser:NM_004167, UniProtKB:Q16663 No chr17 34323476 34329084 35997582 36002038 +PA35547 6360 HGNC:10614 ENSG00000275152 C-C motif chemokine ligand 16 CCL16 chemokine (C-C motif) ligand 16 CKb12, HCC-4, LCC-1, LEC, LMC, Mtn-1, NCC-4, SCYA16, SCYL4 Yes No Comparative Toxicogenomics Database:6360, Ensembl:ENSG00000275152, GenAtlas:CCL16, GeneCard:CCL16, HGNC:HGNC:10614, HumanCyc Gene:HS08596, ModBase:O15467, NCBI Gene:6360, OMIM:601394, RefSeq DNA:NT_010799, RefSeq Protein:NP_004581, RefSeq RNA:NM_004590, UCSC Genome Browser:NM_004590, UniProtKB:O15467 No chr17 34303529 34310373 35976493 35983620 +PA35548 6361 HGNC:10615 ENSG00000102970 C-C motif chemokine ligand 17 CCL17 chemokine (C-C motif) ligand 17 ABCD-2, SCYA17, TARC Yes No Comparative Toxicogenomics Database:6361, Ensembl:ENSG00000102970, GenAtlas:CCL17, GeneCard:CCL17, HGNC:HGNC:10615, HumanCyc Gene:HS02435, ModBase:Q92583, NCBI Gene:6361, OMIM:601520, RefSeq DNA:NT_010498, RefSeq Protein:NP_002978, RefSeq RNA:NM_002987, UCSC Genome Browser:NM_002987, UniProtKB:Q92583 No chr16 57438679 57449974 57396076 57416063 +PA35549 6362 HGNC:10616 ENSG00000275385 C-C motif chemokine ligand 18 CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated), pulmonary and activation-regulated AMAC-1, CKb7, DC-CK1, DCCK1, MIP-4, PARC, SCYA18 Yes No Comparative Toxicogenomics Database:6362, Ensembl:ENSG00000275385, GenAtlas:CCL18, GeneCard:CCL18, HGNC:HGNC:10616, HumanCyc Gene:HS00164, ModBase:P55774, NCBI Gene:6362, OMIM:603757, RefSeq DNA:NT_010799, RefSeq Protein:NP_002979, RefSeq RNA:NM_002988, UCSC Genome Browser:NM_002988, UniProtKB:P55774 No chr17 34391643 34398841 36064272 36071481 +PA35550 6363 HGNC:10617 ENSG00000172724 C-C motif chemokine ligand 19 CCL19 CC chemokine ligand 19, CK beta-11, EBI1-ligand chemokine, beta chemokine exodus-3, chemokine (C-C motif) ligand 19, macrophage inflammatory protein 3-beta CKb11, ELC, MIP-3b, SCYA19, exodus-3 Yes No Comparative Toxicogenomics Database:6363, Ensembl:ENSG00000172724, GenAtlas:CCL19, GeneCard:CCL19, HGNC:HGNC:10617, HumanCyc Gene:HS10557, ModBase:Q99731, NCBI Gene:6363, OMIM:602227, RefSeq DNA:NT_008413, RefSeq Protein:NP_006265, RefSeq RNA:NM_006274, UCSC Genome Browser:NM_006274, UniProtKB:Q6IBD6, UniProtKB:Q99731 No chr9 34689567 34691274 34689570 34691277 +PA130413151 6347 HGNC:10618 ENSG00000108691 C-C motif chemokine ligand 2 CCL2 """chemokine (C-C motif) ligand 2"", ""monocyte chemoattractant protein-1"", ""monocyte chemotactic and activating factor"", ""monocyte chemotactic protein 1, homologous to mouse Sig-je"", ""monocyte secretory protein JE"", ""small inducible cytokine subfamily A (Cys-Cys), member 2""" GDCF-2, HC11, MCAF, MCP-1, MCP1, MGC9434, SCYA2, SMC-CF Yes Yes Comparative Toxicogenomics Database:6347, Ensembl:ENSG00000108691, GeneCard:CCL2, HGNC:HGNC:10618, HumanCyc Gene:HS03144, ModBase:P13500, NCBI Gene:6347, OMIM:158105, OMIM:182940, OMIM:607948, OMIM:609423, RefSeq DNA:NG_012123, RefSeq DNA:NT_010799, RefSeq Protein:NP_002973, RefSeq RNA:NM_002982, UCSC Genome Browser:NM_002982, UniProtKB:P13500 No chr17 32582296 32584222 34255277 34257203 +PA35551 6364 HGNC:10619 ENSG00000115009 C-C motif chemokine ligand 20 CCL20 chemokine (C-C motif) ligand 20 CKb4, LARC, MIP-3a, SCYA20, ST38, exodus-1 Yes No Comparative Toxicogenomics Database:6364, Ensembl:ENSG00000115009, GenAtlas:CCL20, GeneCard:CCL20, HGNC:HGNC:10619, HumanCyc Gene:HS03824, ModBase:P78556, NCBI Gene:6364, OMIM:601960, RefSeq DNA:NT_005403, RefSeq Protein:NP_001123518, RefSeq Protein:NP_004582, RefSeq RNA:NM_001130046, RefSeq RNA:NM_004591, UCSC Genome Browser:NM_004591, UniProtKB:P78556 No chr2 228678558 228682280 227813842 227817564 +PA35552 6366 HGNC:10620 ENSG00000137077 C-C motif chemokine ligand 21 CCL21 Efficient Chemoattractant for Lymphocytes, beta chemokine exodus-2, chemokine (C-C motif) ligand 21, secondary lymphoid tissue chemokine 6Ckine, CKb9, ECL, SCYA21, SLC, TCA4, exodus-2 Yes Yes Ensembl:ENSG00000137077, GenAtlas:CCL21, GeneCard:CCL21, HGNC:HGNC:10620, HumanCyc Gene:HS06265, ModBase:O00585, NCBI Gene:6366, OMIM:602737, RefSeq DNA:NT_008413, RefSeq Protein:NP_002980, RefSeq RNA:NM_002989, UCSC Genome Browser:NM_002989, UniProtKB:O00585, UniProtKB:Q6ICR7 No chr9 34709002 34710164 34709005 34710167 +PA35553 6367 HGNC:10621 ENSG00000102962 C-C motif chemokine ligand 22 CCL22 chemokine (C-C motif) ligand 22 A-152E5.1, ABCD-1, DC/B-CK, MDC, MGC34554, SCYA22, STCP-1 Yes No Comparative Toxicogenomics Database:6367, Ensembl:ENSG00000102962, GenAtlas:CCL22, GeneCard:CCL22, HGNC:HGNC:10621, HumanCyc Gene:HS02433, ModBase:O00626, NCBI Gene:6367, OMIM:602957, RefSeq DNA:NT_010498, RefSeq Protein:NP_002981, RefSeq RNA:NM_002990, UCSC Genome Browser:NM_002990, UniProtKB:O00626 No chr16 57392695 57400102 57357909 57366190 +PA35554 6368 HGNC:10622 ENSG00000274736 C-C motif chemokine ligand 23 CCL23 chemokine (C-C motif) ligand 23 CKb8, Ckb-8, MIP-3, MPIF-1, SCYA23 Yes No Comparative Toxicogenomics Database:6368, Ensembl:ENSG00000274736, GenAtlas:CCL23, GeneCard:CCL23, HGNC:HGNC:10622, HumanCyc Gene:HS09529, ModBase:P55773, NCBI Gene:6368, OMIM:602494, RefSeq DNA:NT_010799, RefSeq Protein:NP_005055, RefSeq Protein:NP_665905, RefSeq RNA:NM_005064, RefSeq RNA:NM_145898, UCSC Genome Browser:NM_005064, UniProtKB:P55773 No chr17 34340096 34345005 36013056 36018179 +PA35555 6369 HGNC:10623 ENSG00000106178 C-C motif chemokine ligand 24 CCL24 CK-beta-6, chemokine (C-C motif) ligand 24, eotaxin-2, myeloid progenitor inhibitory factor 2 Ckb-6, MPIF-2, MPIF2, SCYA24 Yes No Comparative Toxicogenomics Database:6369, Ensembl:ENSG00000106178, GenAtlas:CCL24, GeneCard:CCL24, HGNC:HGNC:10623, HumanCyc Gene:HS02870, ModBase:O00175, NCBI Gene:6369, OMIM:602495, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_002982, RefSeq RNA:NM_002991, UCSC Genome Browser:NM_002991, UniProtKB:O00175 No chr7 75440766 75452674 75810825 75823356 +PA35556 6370 HGNC:10624 ENSG00000131142 C-C motif chemokine ligand 25 CCL25 Ck beta-15, TECKvar, chemokine (C-C motif) ligand 25, thymus expressed chemokine Ckb15, SCYA25, TECK Yes No Ensembl:ENSG00000131142, GenAtlas:CCL25, GeneCard:CCL25, HGNC:HGNC:10624, HumanCyc Gene:HS05493, ModBase:O15444, NCBI Gene:6370, OMIM:602565, RefSeq DNA:NT_077812, RefSeq Protein:NP_001188288, RefSeq Protein:NP_005615, RefSeq RNA:NM_001201359, RefSeq RNA:NM_005624, UCSC Genome Browser:NM_005624, UniProtKB:O15444 No chr19 8117224 8127547 8052318 8062663 +PA35557 10344 HGNC:10625 ENSG00000006606 C-C motif chemokine ligand 26 CCL26 CC chemokine IMAC, chemokine (C-C motif) ligand 26, chemokine N1, eotaxin-3, macrophage inflammatory protein 4-alpha, small inducible cytokine A26, thymic stroma chemokine-1 IMAC, MIP-4a, MIP-4alpha, SCYA26, TSC-1 Yes No Comparative Toxicogenomics Database:10344, Ensembl:ENSG00000006606, GenAtlas:CCL26, GeneCard:CCL26, HGNC:HGNC:10625, HumanCyc Gene:HS00184, ModBase:Q9Y258, NCBI Gene:10344, OMIM:604697, OMIM:610247, RefSeq DNA:NG_015989, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_006063, RefSeq RNA:NM_006072, UCSC Genome Browser:NM_006072, UniProtKB:Q9Y258 No chr7 75398842 75419064 75769524 75791583 +PA35558 10850 HGNC:10626 ENSG00000213927 C-C motif chemokine ligand 27 CCL27 CC chemokine ILC, IL-11 Ralpha-locus chemokine, chemokine (C-C motif) ligand 27, cutaneous T-cell attracting chemokine ALP, CTACK, CTAK, ESkine, ILC, PESKY, SCYA27, skinkine Yes No Comparative Toxicogenomics Database:10850, Ensembl:ENSG00000213927, GenAtlas:CCL27, GeneCard:CCL27, HGNC:HGNC:10626, HumanCyc Gene:HS06271, ModBase:Q9Y4X3, NCBI Gene:10850, OMIM:604833, RefSeq DNA:NT_008413, RefSeq Protein:NP_006655, RefSeq RNA:NM_006664, UCSC Genome Browser:NM_006664, UniProtKB:Q5VZ77, UniProtKB:Q9Y4X3 No chr9 34661893 34662689 34661883 34662692 +PA38463 56477 HGNC:17700 ENSG00000151882 C-C motif chemokine ligand 28 CCL28 """CC chemokine CCL28"", ""chemokine (C-C motif) ligand 28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine A28"", ""small inducible cytokine subfamily A (Cys-Cys), member 28""" CCK1, MEC, SCYA28 Yes No Ensembl:ENSG00000151882, GenAtlas:CCL28, GeneCard:CCL28, HGNC:HGNC:17700, HumanCyc Gene:HS07777, ModBase:Q9NRJ3, NCBI Gene:56477, OMIM:605240, RefSeq DNA:NT_006576, RefSeq Protein:NP_683513, RefSeq RNA:NM_148672, UCSC Genome Browser:NM_019846, UniProtKB:A0N0Q3, UniProtKB:Q9NRJ3 No chr5 43376747 43412488 43356972 43412391 +PA35559 6348 HGNC:10627 ENSG00000277632 C-C motif chemokine ligand 3 CCL3 chemokine (C-C motif) ligand 3, macrophage inflammatory protein 1 alpha G0S19-1, LD78, LD78ALPHA, MIP-1-alpha, SCI, SCYA3 Yes No Comparative Toxicogenomics Database:6348, Ensembl:ENSG00000277632, GenAtlas:CCL3, GeneCard:CCL3, HGNC:HGNC:10627, HumanCyc Gene:HS00165, ModBase:P10147, NCBI Gene:6348, OMIM:182283, OMIM:609423, RefSeq DNA:NT_010799, RefSeq Protein:NP_002974, RefSeq RNA:NM_002983, UCSC Genome Browser:NM_002983, UniProtKB:A0N0R1, UniProtKB:P10147 No chr17 34415602 34417506 36088256 36090160 +PA35560 6349 HGNC:10628 ENSG00000277796 C-C motif chemokine ligand 3 like 1 CCL3L1 chemokine (C-C motif) ligand 3-like 1 D17S1718, G0S19-2, LD78BETA, SCYA3L, SCYA3L1 Yes No Comparative Toxicogenomics Database:6349, Ensembl:ENSG00000277796, GenAtlas:CCL3L1, GeneCard:CCL3L1, HGNC:HGNC:10628, NCBI Gene:6349, OMIM:601395, OMIM:609423, RefSeq DNA:NG_004113, RefSeq DNA:NG_023369, RefSeq DNA:NT_010799, RefSeq Protein:NP_066286, RefSeq RNA:NM_021006, UCSC Genome Browser:NM_021006, UniProtKB:P16619 No chr17 34623842 34625730 250577 252466 +PA142672174 414062 HGNC:30554 ENSG00000205021, ENSG00000256515 C-C motif chemokine ligand 3 like 3 CCL3L3 chemokine (C-C motif) ligand 3-like 3 MGC12815 Yes No Comparative Toxicogenomics Database:414062, Ensembl:ENSG00000205021, Ensembl:ENSG00000256515, GeneCard:CCL3L3, HGNC:HGNC:30554, NCBI Gene:414062, OMIM:609468, RefSeq DNA:NG_004113, RefSeq DNA:NG_023325, RefSeq DNA:NT_010799, RefSeq Protein:NP_001001437, RefSeq RNA:NM_001001437 No chr17 34522268 34524147 36194869 36196748 +PA35561 390788 HGNC:10629 chemokine (C-C motif) ligand 3 pseudogene 1 CCL3P1 LD78gamma Yes No GeneCard:CCL3P1, HGNC:HGNC:10629, NCBI Gene:390788, OMIM:609467, RefSeq DNA:NG_004113, RefSeq DNA:NT_010799 No chr17 34610311 34611373 237046 238108 +PA35562 6351 HGNC:10630 ENSG00000275302 C-C motif chemokine ligand 4 CCL4 chemokine (C-C motif) ligand 4 AT744.1, Act-2, LAG1, MIP-1-beta, SCYA4 Yes No Comparative Toxicogenomics Database:6351, Ensembl:ENSG00000275302, GenAtlas:CCL4, GeneCard:CCL4, HGNC:HGNC:10630, HumanCyc Gene:HS05265, ModBase:P13236, NCBI Gene:6351, OMIM:182284, RefSeq DNA:NT_010799, RefSeq Protein:NP_002975, RefSeq RNA:NM_002984, UCSC Genome Browser:NM_002984 No chr17 34431220 34433014 36103827 36105621 +PA166352384 388372 HGNC:10631 C-C motif chemokine ligand 4 like 1 CCL4L1 CCL4L, SCYA4L AT744.2, LAG-1 Yes No HGNC:HGNC:10631, NCBI Gene:388372 No 0 0 0 0 +PA142672157 388372, 9560 HGNC:24066 ENSG00000197262, ENSG00000205020 C-C motif chemokine ligand 4 like 2 CCL4L2 chemokine (C-C motif) ligand 4-like 2 CCL4L1 Yes No Ensembl:ENSG00000197262, Ensembl:ENSG00000205020, GeneCard:CCL4L2, HGNC:HGNC:24066, ModBase:Q50EM7, NCBI Gene:388372, NCBI Gene:9560, OMIM:610757, RefSeq DNA:NG_004113, RefSeq DNA:NT_010799, RefSeq Protein:NP_996890, RefSeq RNA:NM_207007 No chr17 34640034 34641841 266611 268581 +PA35564 6352 HGNC:10632 ENSG00000271503 C-C motif chemokine ligand 5 CCL5 """SIS-delta"", ""T-cell specific RANTES protein"", ""T-cell specific protein p288"", ""beta-chemokine RANTES"", ""chemokine (C-C motif) ligand 5"", ""regulated upon activation, normally T-expressed, and presumably secreted"", ""small inducible cytokine subfamily A (Cys-Cys), member 5""" D17S136E, MGC17164, RANTES, SCYA5, SISd, TCP228 Yes No Comparative Toxicogenomics Database:6352, Ensembl:ENSG00000271503, GenAtlas:CCL5, GeneCard:CCL5, HGNC:HGNC:10632, HumanCyc Gene:HS08594, ModBase:P13501, NCBI Gene:6352, OMIM:187011, RefSeq DNA:NG_015990, RefSeq DNA:NT_010799, RefSeq Protein:NP_002976, RefSeq RNA:NM_002985, UCSC Genome Browser:NM_002985, UniProtKB:D0EI67, UniProtKB:P13501 No chr17 34198495 34207377 35871491 35880373 +PA35566 6354 HGNC:10634 ENSG00000108688 C-C motif chemokine ligand 7 CCL7 chemokine (C-C motif) ligand 7, monocyte chemoattractant protein 3, monocyte chemotactic protein 3 FIC, MARC, MCP-3, MCP3, NC28, SCYA6, SCYA7 Yes No Comparative Toxicogenomics Database:6354, Ensembl:ENSG00000108688, GenAtlas:CCL7, GeneCard:CCL7, HGNC:HGNC:10634, HumanCyc Gene:HS03143, ModBase:P80098, NCBI Gene:6354, OMIM:158106, RefSeq DNA:NT_010799, RefSeq Protein:NP_006264, RefSeq RNA:NM_006273, UCSC Genome Browser:NM_006273, UniProtKB:P80098 No chr17 32597235 32599261 34270216 34272242 +PA35567 6355 HGNC:10635 ENSG00000108700 C-C motif chemokine ligand 8 CCL8 chemokine (C-C motif) ligand 8 HC14, MCP-2, SCYA8 Yes No Comparative Toxicogenomics Database:6355, Ensembl:ENSG00000108700, GenAtlas:CCL8, GeneCard:CCL8, HGNC:HGNC:10635, HumanCyc Gene:HS03145, ModBase:P80075, NCBI Gene:6355, OMIM:602283, RefSeq DNA:NT_010799, RefSeq Protein:NP_005614, RefSeq RNA:NM_005623, UCSC Genome Browser:NM_005623, UniProtKB:P80075 No chr17 32646066 32648421 34319047 34321402 +PA26145 83605 HGNC:21708 ENSG00000136280 CCM2 scaffold protein CCM2 cerebral cavernous malformation 2, malcavernin, osmosensing scaffold for MEKK3 C7orf22, MGC4607, OSM Yes No Comparative Toxicogenomics Database:83605, Ensembl:ENSG00000136280, GenAtlas:CCM2, GeneCard:CCM2, HGNC:HGNC:21708, HumanCyc Gene:HS13624, ModBase:Q9BSQ5, NCBI Gene:83605, OMIM:603284, OMIM:607929, RefSeq DNA:NG_016295, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001025006, RefSeq Protein:NP_001161406, RefSeq Protein:NP_001161407, RefSeq Protein:NP_113631, RefSeq RNA:NM_001029835, RefSeq RNA:NM_001167934, RefSeq RNA:NM_001167935, RefSeq RNA:NM_031443, RefSeq RNA:NR_030770, UniProtKB:Q9BSQ5 No chr7 45039345 45116069 44999746 45076470 +PA25702 140706 HGNC:16153 ENSG00000101331 CCM2 like scaffold protein CCM2L cerebral cavernous malformation 2-like C20orf160, dJ310O13.5 Yes No Ensembl:ENSG00000101331, GenAtlas:C20orf160, GeneCard:C20orf160, HGNC:HGNC:16153, HumanCyc Gene:HS02243, ModBase:Q9NUG4, NCBI Gene:140706, RefSeq DNA:NT_011362, RefSeq Protein:NP_542192, RefSeq RNA:NM_080625, UCSC Genome Browser:NM_080625, UniProtKB:Q9NUG4 No chr20 30598200 30619984 32010379 32032182 +PA27126 3491 HGNC:2654 ENSG00000142871 cellular communication network factor 1 CCN1 """cysteine rich angiogenic inducer 61"", ""cysteine-rich, angiogenic inducer, 61""" CCN1, CYR61, GIG1, IGFBP10 Yes No Comparative Toxicogenomics Database:3491, Ensembl:ENSG00000142871, GenAtlas:CYR61, GeneCard:CYR61, HGNC:HGNC:2654, HumanCyc Gene:HS06967, ModBase:O00622, NCBI Gene:3491, OMIM:602369, RefSeq DNA:NT_032977, RefSeq Protein:NP_001545, RefSeq RNA:NM_001554, UCSC Genome Browser:NM_001554, UniProtKB:O00622, UniProtKB:Q6FI18 No chr1 86046444 86049650 85580761 85583967 +PA27003 1490 HGNC:2500 ENSG00000118523 cellular communication network factor 2 CCN2 connective tissue growth factor CCN2, CTGF, IGFBP8 Yes No Comparative Toxicogenomics Database:1490, Ensembl:ENSG00000118523, GenAtlas:CTGF, GeneCard:CTGF, HGNC:HGNC:2500, HumanCyc Gene:HS04232, ModBase:P29279, NCBI Gene:1490, OMIM:121009, RefSeq DNA:NG_016131, RefSeq DNA:NT_025741, RefSeq Protein:NP_001892, RefSeq RNA:NM_001901, UCSC Genome Browser:NM_001901, UniProtKB:P29279, UniProtKB:Q5M8T4 No chr6 132269316 132272518 131948176 131951378 +PA31687 4856 HGNC:7885 ENSG00000136999 cellular communication network factor 3 CCN3 nephroblastoma overexpressed CCN3, IGFBP9, NOV Yes No Comparative Toxicogenomics Database:4856, Ensembl:ENSG00000136999, GenAtlas:NOV, GeneCard:NOV, HGNC:HGNC:7885, HumanCyc Gene:HS06260, ModBase:P48745, NCBI Gene:4856, OMIM:164958, RefSeq DNA:NG_009779, RefSeq DNA:NT_008046, RefSeq Protein:NP_002505, RefSeq RNA:NM_002514, UCSC Genome Browser:NM_002514, UniProtKB:P48745 No chr8 120428552 120436678 119416312 119424438 +PA37372 8840 HGNC:12769 ENSG00000104415 cellular communication network factor 4 CCN4 WNT1 inducible signaling pathway protein 1 CCN4, WISP-1, WISP1, WISP1-OT1, WISP1-UT1 Yes Yes Comparative Toxicogenomics Database:8840, Ensembl:ENSG00000104415, GenAtlas:WISP1, GeneCard:WISP1, HGNC:HGNC:12769, HumanCyc Gene:HS02580, ModBase:O95388, NCBI Gene:8840, OMIM:603398, RefSeq DNA:NT_008046, RefSeq Protein:NP_001191798, RefSeq Protein:NP_001191799, RefSeq Protein:NP_003873, RefSeq Protein:NP_543028, RefSeq RNA:NM_001204869, RefSeq RNA:NM_001204870, RefSeq RNA:NM_003882, RefSeq RNA:NM_080838, RefSeq RNA:NR_037944, UCSC Genome Browser:NM_003882, UniProtKB:O95388 No chr8 134203282 134243933 133191039 133231690 +PA37373 8839 HGNC:12770 ENSG00000064205 cellular communication network factor 5 CCN5 WNT1 inducible signaling pathway protein 2 CCN5, CT58, CTGF-L, WISP-2, WISP2 Yes No Comparative Toxicogenomics Database:8839, Ensembl:ENSG00000064205, GenAtlas:WISP2, GeneCard:WISP2, HGNC:HGNC:12770, HumanCyc Gene:HS00796, ModBase:O76076, NCBI Gene:8839, OMIM:603399, RefSeq DNA:NT_011362, RefSeq Protein:NP_003872, RefSeq RNA:NM_003881, UCSC Genome Browser:NM_003881, UniProtKB:O76076 No chr20 43343493 43356453 44714204 44728041 +PA37374 8838 HGNC:12771 ENSG00000112761 cellular communication network factor 6 CCN6 WNT1 inducible signaling pathway protein 3 CCN6, WISP-3, WISP3 Yes No Comparative Toxicogenomics Database:8838, Ensembl:ENSG00000112761, GenAtlas:WISP3, GeneCard:WISP3, HGNC:HGNC:12771, HumanCyc Gene:HS03617, ModBase:O95389, NCBI Gene:8838, OMIM:208230, OMIM:603400, RefSeq DNA:NG_011748, RefSeq DNA:NT_025741, RefSeq Protein:NP_003871, RefSeq Protein:NP_937882, RefSeq RNA:NM_003880, RefSeq RNA:NM_198239, UCSC Genome Browser:NM_003880, UniProtKB:O95389 No chr6 112375278 112390889 112052813 112069686 +PA26147 8900 HGNC:1577 ENSG00000133101 cyclin A1 CCNA1 CT146 Yes No Comparative Toxicogenomics Database:8900, Ensembl:ENSG00000133101, GenAtlas:CCNA1, GeneCard:CCNA1, HGNC:HGNC:1577, HumanCyc Gene:HS05731, ModBase:P78396, NCBI Gene:8900, OMIM:604036, RefSeq DNA:NT_024524, RefSeq Protein:NP_001104515, RefSeq Protein:NP_001104516, RefSeq Protein:NP_001104517, RefSeq Protein:NP_003905, RefSeq RNA:NM_001111045, RefSeq RNA:NM_001111046, RefSeq RNA:NM_001111047, RefSeq RNA:NM_003914, UCSC Genome Browser:NM_003914, UniProtKB:B7Z7E3, UniProtKB:P78396 No chr13 37005257 37017019 36430488 36442882 +PA94 890 HGNC:1578 ENSG00000145386 cyclin A2 CCNA2 CCN1, CCNA Yes No Comparative Toxicogenomics Database:890, Ensembl:ENSG00000145386, GenAtlas:CCNA2, GeneCard:CCNA2, HGNC:HGNC:1578, HumanCyc Gene:HS07251, ModBase:P20248, NCBI Gene:890, OMIM:123835, RefSeq DNA:NT_016354, RefSeq Protein:NP_001228, RefSeq RNA:NM_001237, UCSC Genome Browser:NM_001237, UniProtKB:P20248 No chr4 122737599 122745153 121816444 121823933 +PA95 891 HGNC:1579 ENSG00000134057 cyclin B1 CCNB1 G2/mitotic-specific cyclin B1 CCNB Yes No Comparative Toxicogenomics Database:891, Ensembl:ENSG00000134057, GenAtlas:CCNB1, GeneCard:CCNB1, HGNC:HGNC:1579, HumanCyc Gene:HS05810, ModBase:P14635, NCBI Gene:891, OMIM:123836, RefSeq DNA:NT_006713, RefSeq Protein:NP_114172, RefSeq RNA:NM_031966, UCSC Genome Browser:NM_031966, UniProtKB:P14635 No chr5 68462837 68474072 69167010 69178245 +PA134863884 57820 HGNC:19437 ENSG00000100814 cyclin B1 interacting protein 1 CCNB1IP1 """cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"", ""human enhancer of invasion 10""" C14orf18, HEI10 Yes No Ensembl:ENSG00000100814, GeneCard:CCNB1IP1, HGNC:HGNC:19437, HumanCyc Gene:HS12428, ModBase:Q9NPC3, NCBI Gene:57820, OMIM:608249, RefSeq DNA:NT_026437, RefSeq Protein:NP_067001, RefSeq Protein:NP_878269, RefSeq Protein:NP_878271, RefSeq Protein:NP_878272, RefSeq RNA:NM_021178, RefSeq RNA:NM_182849, RefSeq RNA:NM_182851, RefSeq RNA:NM_182852, UniProtKB:Q9NPC3 No chr14 20779527 20801471 20311368 20333312 +PA26148 9133 HGNC:1580 ENSG00000157456 cyclin B2 CCNB2 HsT17299 Yes No Comparative Toxicogenomics Database:9133, Ensembl:ENSG00000157456, GenAtlas:CCNB2, GeneCard:CCNB2, HGNC:HGNC:1580, HumanCyc Gene:HS08214, ModBase:O95067, NCBI Gene:9133, OMIM:602755, RefSeq DNA:NT_010194, RefSeq Protein:NP_004692, RefSeq RNA:NM_004701, UCSC Genome Browser:NM_004701, UniProtKB:O95067 No chr15 59397284 59417244 59105085 59125045 +PA38653 85417 HGNC:18709 ENSG00000147082 cyclin B3 CCNB3 CYCB3 Yes No Comparative Toxicogenomics Database:85417, Ensembl:ENSG00000147082, GenAtlas:CCNB3, GeneCard:CCNB3, HGNC:HGNC:18709, HumanCyc Gene:HS07389, ModBase:Q8WWL7, NCBI Gene:85417, OMIM:300456, RefSeq DNA:NG_012880, RefSeq DNA:NT_011638, RefSeq Protein:NP_149020, RefSeq Protein:NP_391990, RefSeq RNA:NM_033031, RefSeq RNA:NM_033670, UCSC Genome Browser:NM_033031, UniProtKB:Q8WWL7 No chrX 50027540 50094913 50202713 50351914 +PA26149 892 HGNC:1581 ENSG00000112237 cyclin C CCNC CycC Yes No Comparative Toxicogenomics Database:892, Ensembl:ENSG00000112237, GenAtlas:CCNC, GeneCard:CCNC, HGNC:HGNC:1581, HumanCyc Gene:HS03538, ModBase:P24863, NCBI Gene:892, OMIM:123838, RefSeq DNA:NT_025741, RefSeq Protein:NP_001013417, RefSeq Protein:NP_005181, RefSeq RNA:NM_001013399, RefSeq RNA:NM_005190, UCSC Genome Browser:NM_005190, UniProtKB:B4DPZ1, UniProtKB:P24863, UniProtKB:Q7Z4L3 No chr6 99990263 100016849 99542387 99568973 +PA75 595 HGNC:1582 ENSG00000110092 cyclin D1 CCND1 B-cell CLL/lymphoma 1, G1/S-specific cyclin D1, parathyroid adenomatosis 1 BCL1, D11S287E, PRAD1, U21B31 Yes Yes Comparative Toxicogenomics Database:595, Ensembl:ENSG00000110092, GenAtlas:CCND1, GeneCard:CCND1, HGNC:HGNC:1582, HumanCyc Gene:HS03287, ModBase:P24385, NCBI Gene:595, OMIM:114500, OMIM:151400, OMIM:168461, OMIM:193300, OMIM:254500, RefSeq DNA:NG_007375, RefSeq DNA:NT_167190, RefSeq Protein:NP_444284, RefSeq RNA:NM_053056, UCSC Genome Browser:NM_053056, UniProtKB:P24385, UniProtKB:Q6FI00 No chr11 69455873 69469242 69641105 69654474 +PA26150 894 HGNC:1583 ENSG00000118971 cyclin D2 CCND2 G1/S-specific cyclin D2 Yes No Comparative Toxicogenomics Database:894, Ensembl:ENSG00000118971, GenAtlas:CCND2, GeneCard:CCND2, HGNC:HGNC:1583, HumanCyc Gene:HS04265, ModBase:P30279, NCBI Gene:894, OMIM:123833, RefSeq DNA:NT_009759, RefSeq Protein:NP_001750, RefSeq RNA:NM_001759, UCSC Genome Browser:NM_001759, UniProtKB:P30279 No chr12 4382901 4414522 4273736 4305356 +PA26152 896 HGNC:1585 ENSG00000112576 cyclin D3 CCND3 Yes No Comparative Toxicogenomics Database:896, Ensembl:ENSG00000112576, GenAtlas:CCND3, GeneCard:CCND3, HGNC:HGNC:1585, HumanCyc Gene:HS03590, ModBase:P30281, NCBI Gene:896, OMIM:123834, RefSeq DNA:NT_007592, RefSeq Protein:NP_001129489, RefSeq Protein:NP_001129597, RefSeq Protein:NP_001129598, RefSeq Protein:NP_001751, RefSeq RNA:NM_001136017, RefSeq RNA:NM_001136125, RefSeq RNA:NM_001136126, RefSeq RNA:NM_001760, UCSC Genome Browser:NM_001760, UniProtKB:B3KQ22, UniProtKB:P30281 No chr6 41902671 42016610 41934933 42048894 +PA26154 23582 HGNC:1587 ENSG00000166946 cyclin D1 binding protein 1 CCNDBP1 D-type cyclin-interacting protein 1, HHM Protein, MAID protein, cyclin D-type binding-protein 1, grap2 and cyclin D interacting protein, grap2 cyclin interacting protein DIP1, GCIP, HHM Yes No Comparative Toxicogenomics Database:23582, Ensembl:ENSG00000166946, GenAtlas:CCNDBP1, GeneCard:CCNDBP1, HGNC:HGNC:1587, HumanCyc Gene:HS09486, ModBase:Q9NYH3, NCBI Gene:23582, OMIM:607089, RefSeq DNA:NT_010194, RefSeq Protein:NP_036274, RefSeq Protein:NP_411241, RefSeq RNA:NM_012142, RefSeq RNA:NM_037370, RefSeq RNA:NR_027513, RefSeq RNA:NR_027514, UCSC Genome Browser:NM_012142, UniProtKB:O95273 No chr15 43477466 43489375 43185118 43197177 +PA96 898 HGNC:1589 ENSG00000105173 cyclin E1 CCNE1 cyclin Es, cyclin Et CCNE Yes No Comparative Toxicogenomics Database:898, Ensembl:ENSG00000105173, GenAtlas:CCNE1, GeneCard:CCNE1, HGNC:HGNC:1589, HumanCyc Gene:HS02684, ModBase:P24864, NCBI Gene:898, OMIM:123837, RefSeq DNA:NT_011109, RefSeq Protein:NP_001229, RefSeq Protein:NP_476530, RefSeq RNA:NM_001238, RefSeq RNA:NM_057182, UCSC Genome Browser:NM_001238, UniProtKB:P24864 No chr19 30302805 30315224 29811994 29824317 +PA26155 9134 HGNC:1590 ENSG00000175305 cyclin E2 CCNE2 CYCE2 Yes No Comparative Toxicogenomics Database:9134, Ensembl:ENSG00000175305, GenAtlas:CCNE2, GeneCard:CCNE2, HGNC:HGNC:1590, HumanCyc Gene:HS10907, ModBase:O96020, NCBI Gene:9134, OMIM:603775, RefSeq DNA:NT_008046, RefSeq Protein:NP_477097, RefSeq RNA:NM_057749, UCSC Genome Browser:NM_004702, UniProtKB:O96020 No chr8 95892452 95909672 94880224 94896671 +PA26156 899 HGNC:1591 ENSG00000162063 cyclin F CCNF FBX1, FBXO1 Yes No Comparative Toxicogenomics Database:899, Ensembl:ENSG00000162063, GenAtlas:CCNF, GeneCard:CCNF, HGNC:HGNC:1591, HumanCyc Gene:HS08638, ModBase:P41002, NCBI Gene:899, OMIM:600227, RefSeq DNA:NT_010393, RefSeq Protein:NP_001752, RefSeq RNA:NM_001761, UCSC Genome Browser:NM_001761, UniProtKB:P41002, UniProtKB:Q59HD0 No chr16 2479395 2508859 2425438 2458858 +PA26157 900 HGNC:1592 ENSG00000113328 cyclin G1 CCNG1 CCNG Yes No Comparative Toxicogenomics Database:900, Ensembl:ENSG00000113328, GenAtlas:CCNG1, GeneCard:CCNG1, HGNC:HGNC:1592, HumanCyc Gene:HS03672, ModBase:P51959, NCBI Gene:900, OMIM:601578, RefSeq DNA:NT_023133, RefSeq Protein:NP_004051, RefSeq Protein:NP_954854, RefSeq RNA:NM_004060, RefSeq RNA:NM_199246, UCSC Genome Browser:NM_004060, UniProtKB:P51959 No chr5 162864573 162872022 163437567 163445016 +PA26158 901 HGNC:1593 ENSG00000138764 cyclin G2 CCNG2 Yes No Comparative Toxicogenomics Database:901, Ensembl:ENSG00000138764, GenAtlas:CCNG2, GeneCard:CCNG2, HGNC:HGNC:1593, HumanCyc Gene:HS06552, ModBase:Q16589, NCBI Gene:901, OMIM:603203, RefSeq DNA:NT_016354, RefSeq Protein:NP_004345, RefSeq RNA:NM_004354, UCSC Genome Browser:NM_004354, UniProtKB:Q16589, UniProtKB:Q6FGC6 No chr4 78078357 78091213 77157204 77170060 +PA26159 902 HGNC:1594 ENSG00000134480 cyclin H CCNH CAK complex subunit, CDK-activating kinase complex subunit, MO15-associated protein, cyclin-dependent kinase-activating kinase complex subunit CycH, p34, p37 Yes Yes Comparative Toxicogenomics Database:902, Ensembl:ENSG00000134480, GenAtlas:CCNH, GeneCard:CCNH, HGNC:HGNC:1594, HumanCyc Gene:HS05876, ModBase:P51946, NCBI Gene:902, OMIM:601953, RefSeq DNA:NT_006713, RefSeq Protein:NP_001186118, RefSeq Protein:NP_001230, RefSeq RNA:NM_001199189, RefSeq RNA:NM_001239, UCSC Genome Browser:NM_001239, UniProtKB:P51946 No chr5 86687310 86708850 87311480 87413033 +PA26160 10983 HGNC:1595 ENSG00000118816 cyclin I CCNI CCNI1 Yes No Comparative Toxicogenomics Database:10983, Ensembl:ENSG00000118816, GenAtlas:CCNI, GeneCard:CCNI, HGNC:HGNC:1595, HumanCyc Gene:HS04252, ModBase:Q14094, NCBI Gene:10983, RefSeq DNA:NT_016354, RefSeq Protein:NP_006826, RefSeq RNA:NM_006835, UCSC Genome Browser:NM_006835, UniProtKB:Q14094 No chr4 77968308 77998719 77047155 77076013 +PA162381968 645121 HGNC:33869 ENSG00000205089 cyclin I family member 2 CCNI2 cyclin I family, member 2 FLJ16793 Yes No Ensembl:ENSG00000205089, GeneCard:CCNI2, HGNC:HGNC:33869, ModBase:Q6ZMN8, NCBI Gene:645121, RefSeq DNA:NT_034772, RefSeq Protein:NP_001034869, RefSeq RNA:NM_001039780, UniProtKB:Q6ZMN8 No chr5 132083137 132089856 132747402 132754403 +PA134911603 54619 HGNC:23434 ENSG00000107443 cyclin J CCNJ FLJ10895, bA690P14.1 Yes No Ensembl:ENSG00000107443, GeneCard:CCNJ, HGNC:HGNC:23434, HumanCyc Gene:HS02998, ModBase:Q5T5M9, NCBI Gene:54619, RefSeq DNA:NT_030059, RefSeq Protein:NP_001127847, RefSeq Protein:NP_001127848, RefSeq Protein:NP_061957, RefSeq RNA:NM_001134375, RefSeq RNA:NM_001134376, RefSeq RNA:NM_019084, UniProtKB:B7Z4E7, UniProtKB:Q5T5M9 No chr10 97803159 97820627 96042848 96060870 +PA144596449 79616 HGNC:25876 ENSG00000135083 cyclin J like CCNJL cyclin J-like FLJ14166 Yes No Ensembl:ENSG00000135083, GeneCard:CCNJL, HGNC:HGNC:25876, HumanCyc Gene:HS13559, ModBase:Q8IV13, NCBI Gene:79616, RefSeq DNA:NT_023133, RefSeq Protein:NP_078841, RefSeq RNA:NM_024565, UniProtKB:Q8IV13 No chr5 159678666 159739602 160251652 160339592 +PA26161 8812 HGNC:1596 ENSG00000090061 cyclin K CCNK CPR4 Yes Yes Comparative Toxicogenomics Database:8812, Ensembl:ENSG00000090061, GenAtlas:CCNK, GeneCard:CCNK, HGNC:HGNC:1596, HumanCyc Gene:HS01675, ModBase:O75909, NCBI Gene:8812, OMIM:603544, RefSeq DNA:NT_026437, RefSeq Protein:NP_001092872, RefSeq Protein:NP_003849, RefSeq RNA:NM_001099402, RefSeq RNA:NM_003858, UCSC Genome Browser:NM_003858, UniProtKB:O75909 No chr14 99947695 99977852 99481402 99511515 +PA166352385 57018 HGNC:20569 cyclin L1 CCNL1 ania-6a Yes No HGNC:HGNC:20569, NCBI Gene:57018 No 0 0 0 0 +PA134973681 81669 HGNC:20570 ENSG00000221978 cyclin L2 CCNL2 cyclin S CCNM, CCNS, HLA-ISO, PCEE, SB138, ania-6b Yes No Comparative Toxicogenomics Database:81669, Ensembl:ENSG00000221978, GeneCard:CCNL2, HGNC:HGNC:20570, ModBase:Q8TEL0, NCBI Gene:81669, OMIM:613482, RefSeq DNA:NT_004350, RefSeq Protein:NP_001034666, RefSeq Protein:NP_001138339, RefSeq Protein:NP_001138340, RefSeq Protein:NP_112199, RefSeq RNA:NM_001039577, RefSeq RNA:NM_001144867, RefSeq RNA:NM_001144868, RefSeq RNA:NM_030937, UniProtKB:Q96S94 No chr1 1321091 1334718 1385711 1399338 +PA38350 10309 HGNC:18576 ENSG00000152669 cyclin O CCNO CCNU, FLJ22422, UDG2, UNG2 Yes No Comparative Toxicogenomics Database:10309, Ensembl:ENSG00000152669, GenAtlas:UNG2, GeneCard:CCNO, GeneCard:UNG2, HGNC:HGNC:18576, HumanCyc Gene:HS07843, NCBI Gene:10309, OMIM:607752, RefSeq DNA:NT_006713, RefSeq Protein:NP_001019763, RefSeq Protein:NP_066970, RefSeq RNA:NM_001024592, RefSeq RNA:NM_021147, UCSC Genome Browser:NM_021147, UniProtKB:P22674 No chr5 54526980 54529508 55231152 55233717 +PA166352386 79935 HGNC:25805 cyclin P CCNP CNTD2 FLJ13265 Yes No HGNC:HGNC:25805, NCBI Gene:79935 No 0 0 0 0 +PA142671863 92002 HGNC:28434 ENSG00000262919 cyclin Q CCNQ """cyclin M"", ""family with sequence similarity 58, member A""" CycM, FAM58A, FLJ21610, MGC29729 Yes No Comparative Toxicogenomics Database:92002, Ensembl:ENSG00000262919, GeneCard:FAM58A, HGNC:HGNC:28434, HumanCyc Gene:HS07422, NCBI Gene:92002, OMIM:300707, OMIM:300708, RefSeq DNA:NG_008393, RefSeq DNA:NT_167198, RefSeq Protein:NP_001124469, RefSeq Protein:NP_689487, RefSeq RNA:NM_001130997, RefSeq RNA:NM_152274, UniProtKB:Q8N1B3 No chrX 152853383 152864632 153587925 153599177 +PA26163 904 HGNC:1599 ENSG00000129315 cyclin T1 CCNT1 CCNT, CYCT1, HIVE1 Yes No Comparative Toxicogenomics Database:904, Ensembl:ENSG00000129315, GenAtlas:CCNT1, GeneCard:CCNT1, HGNC:HGNC:1599, HumanCyc Gene:HS05268, ModBase:O60563, NCBI Gene:904, OMIM:143055, RefSeq DNA:NT_029419, RefSeq Protein:NP_001231, RefSeq RNA:NM_001240, RefSeq RNA:NR_024266, UCSC Genome Browser:NM_001240, UniProtKB:O60563 No chr12 49082241 49110781 48688458 48716998 +PA26164 905 HGNC:1600 ENSG00000082258 cyclin T2 CCNT2 Yes No Comparative Toxicogenomics Database:905, Ensembl:ENSG00000082258, GenAtlas:CCNT2, GeneCard:CCNT2, HGNC:HGNC:1600, HumanCyc Gene:HS01418, ModBase:O60583, NCBI Gene:905, OMIM:603862, RefSeq DNA:NT_022135, RefSeq Protein:NP_001232, RefSeq Protein:NP_490595, RefSeq RNA:NM_001241, RefSeq RNA:NM_058241, RefSeq RNA:NR_037649, UCSC Genome Browser:NM_001241, UniProtKB:O60583 No chr2 135676363 135716915 134918810 134959345 +PA162381980 219771 HGNC:23354 ENSG00000108100 cyclin Y CCNY C10orf9, CBCP1, CFP1 Yes Yes Ensembl:ENSG00000108100, GeneCard:CCNY, HGNC:HGNC:23354, HumanCyc Gene:HS03064, ModBase:Q96P45, NCBI Gene:219771, OMIM:612786, RefSeq DNA:NT_008705, RefSeq Protein:NP_659449, RefSeq Protein:NP_859049, RefSeq RNA:NM_145012, RefSeq RNA:NM_181698, UniProtKB:Q8ND76 No chr10 35535953 35860848 35246981 35572670 +PA162382009 151195 HGNC:26868 ENSG00000163249 cyclin Y like 1 CCNYL1 cyclin Y-like 1 FLJ40432 Yes No Ensembl:ENSG00000163249, GeneCard:CCNYL1, HGNC:HGNC:26868, HumanCyc Gene:HS08813, NCBI Gene:151195, RefSeq DNA:NT_005403, RefSeq Protein:NP_001135772, RefSeq Protein:NP_689736, RefSeq RNA:NM_001142300, RefSeq RNA:NM_152523, UniProtKB:Q8N7R7 No chr2 208576264 208620898 207711540 207756174 +PA166352387 102724485 HGNC:56313 cyclin Y like 1B CCNYL1B Yes No HGNC:HGNC:56313, NCBI Gene:102724485 No 0 0 0 0 +PA162382036 414194 HGNC:23495 ENSG00000182632 cyclin Y-like 2 CCNYL2 bA178A10.2 Yes No Ensembl:ENSG00000182632, GeneCard:CCNYL2, HGNC:HGNC:23495, NCBI Gene:414194, RefSeq DNA:NT_033985, RefSeq Protein:XP_001714335, RefSeq Protein:XP_374787, RefSeq Protein:XP_941461, RefSeq RNA:XM_001714283, RefSeq RNA:XM_374787, RefSeq RNA:XM_936368, RefSeq RNA:XR_110546 No chr10 42903622 42967688 42408174 42472240 +PA162382064 102724928 HGNC:33206 ENSG00000216671 cyclin Y-like 3 CCNYL3 Yes No Ensembl:ENSG00000216671, GeneCard:CCNYL3, HGNC:HGNC:33206, NCBI Gene:102724928, RefSeq DNA:NT_024773, RefSeq Protein:XP_001715784, RefSeq Protein:XP_002346840, RefSeq Protein:XP_930958, RefSeq RNA:XM_001715732, RefSeq RNA:XM_002346799, RefSeq RNA:XM_925865 No chr16 +PA166048960 9738 HGNC:24342 ENSG00000103540 centriolar coiled-coil protein 110 CCP110 centriolar coiled coil protein 110kDa CP110, KIAA0419 Yes No Ensembl:ENSG00000103540, HGNC:HGNC:24342, NCBI Gene:9738 No chr16 19535179 19564730 19523857 19553408 +PA134967250 9236 HGNC:24227 ENSG00000260916 cell cycle progression 1 CCPG1 CPR8, KIAA1254 Yes No Comparative Toxicogenomics Database:9236, Ensembl:ENSG00000260916, GeneCard:CCPG1, HGNC:HGNC:24227, HumanCyc Gene:HS13278, ModBase:Q9ULG6, NCBI Gene:9236, OMIM:611326, RefSeq DNA:NT_010194, RefSeq Protein:NP_001191379, RefSeq Protein:NP_001191380, RefSeq Protein:NP_004739, RefSeq Protein:NP_065790, RefSeq RNA:NM_001204450, RefSeq RNA:NM_001204451, RefSeq RNA:NM_004748, RefSeq RNA:NM_020739, UniProtKB:Q9ULG6 No chr15 55647421 55700708 55355223 55408510 +PA26166 1230 HGNC:1602 ENSG00000163823 C-C motif chemokine receptor 1 CCR1 chemokine (C-C motif) receptor 1 CD191, CKR-1, CMKBR1, MIP1aR, SCYAR1 Yes No Comparative Toxicogenomics Database:1230, Ensembl:ENSG00000163823, GenAtlas:CCR1, GeneCard:CCR1, HGNC:HGNC:1602, HumanCyc Gene:HS08948, IUPHAR Receptor:58, ModBase:P32246, NCBI Gene:1230, OMIM:601159, RefSeq DNA:NT_022517, RefSeq Protein:NP_001286, RefSeq RNA:NM_001295, UCSC Genome Browser:NM_001295, UniProtKB:P32246, UniProtKB:Q5U003 No chr3 46243200 46249832 46201709 46208341 +PA28862 2826 HGNC:4474 ENSG00000184451 C-C motif chemokine receptor 10 CCR10 chemokine (C-C motif) receptor 10 GPR2 Yes No Comparative Toxicogenomics Database:2826, Ensembl:ENSG00000184451, GenAtlas:CCR10, GeneCard:CCR10, HGNC:HGNC:4474, IUPHAR Receptor:67, ModBase:P46092, NCBI Gene:2826, OMIM:600240, RefSeq DNA:NT_010783, RefSeq Protein:NP_057686, RefSeq RNA:NM_016602, UCSC Genome Browser:NM_016602, UniProtKB:P46092 No chr17 40831420 40833845 42679402 42681827 +PA26167 729230 HGNC:1603 ENSG00000121807 C-C motif chemokine receptor 2 CCR2 chemokine (C-C motif) receptor 2 CC-CKR-2, CD192, CKR2, CMKBR2, FLJ78302, MCP-1-R Yes No Comparative Toxicogenomics Database:1231, Ensembl:ENSG00000121807, GenAtlas:CCR2, GeneCard:CCR2, HGNC:HGNC:1603, ModBase:P41597, NCBI Gene:729230, OMIM:601267, RefSeq DNA:NG_021428, RefSeq DNA:NT_022517, RefSeq Protein:NP_001116513, RefSeq Protein:NP_001116868, RefSeq RNA:NM_001123041, RefSeq RNA:NM_001123396, UCSC Genome Browser:NM_000647, UniProtKB:P41597, UniProtKB:Q4VBL2 No chr3 46395235 46402413 46353744 46360940 +PA26168 1232 HGNC:1604 ENSG00000183625 C-C motif chemokine receptor 3 CCR3 chemokine (C-C motif) receptor 3 CC-CKR-3, CD193, CKR3, CMKBR3 Yes No Comparative Toxicogenomics Database:1232, Ensembl:ENSG00000183625, GenAtlas:CCR3, GeneCard:CCR3, HGNC:HGNC:1604, IUPHAR Receptor:60, ModBase:P51677, NCBI Gene:1232, OMIM:601268, RefSeq DNA:NT_022517, RefSeq Protein:NP_001158152, RefSeq Protein:NP_001828, RefSeq Protein:NP_847898, RefSeq Protein:NP_847899, RefSeq RNA:NM_001164680, RefSeq RNA:NM_001837, RefSeq RNA:NM_178328, RefSeq RNA:NM_178329, UCSC Genome Browser:NM_001837, UniProtKB:P51677, UniProtKB:Q8TDP4, UniProtKB:Q8TDP5, UniProtKB:Q8TDP6 No chr3 46283872 46308197 46210699 46266706 +PA26169 1233 HGNC:1605 ENSG00000183813 C-C motif chemokine receptor 4 CCR4 chemokine (C-C motif) receptor 4 CC-CKR-4, CD194, CKR4, CMKBR4, ChemR13, k5-5 Yes No Comparative Toxicogenomics Database:1233, Ensembl:ENSG00000183813, GenAtlas:CCR4, GeneCard:CCR4, HGNC:HGNC:1605, IUPHAR Receptor:61, ModBase:P51679, NCBI Gene:1233, OMIM:604836, RefSeq DNA:NT_022517, RefSeq Protein:NP_005499, RefSeq RNA:NM_005508, UCSC Genome Browser:NM_005508, UniProtKB:A0N0Q1, UniProtKB:P51679 No chr3 32993066 32996403 32951555 32955312 +PA26170 1234 HGNC:1606 ENSG00000160791 C-C motif chemokine receptor 5 CCR5 C-C motif chemokine receptor 5 (gene/pseudogene), chemokine (C-C motif) receptor 5 (gene/pseudogene) CC-CKR-5, CD195, CKR-5, CKR5, CMKBR5, IDDM22 Yes Yes Comparative Toxicogenomics Database:1234, Ensembl:ENSG00000160791, GenAtlas:CCR5, GeneCard:CCR5, HGNC:HGNC:1606, HumanCyc Gene:HS08536, IUPHAR Receptor:62, ModBase:O14708, NCBI Gene:1234, OMIM:601373, OMIM:609532, OMIM:610379, OMIM:612522, RefSeq DNA:NG_012637, RefSeq DNA:NT_022517, RefSeq Protein:NP_000570, RefSeq Protein:NP_001093638, RefSeq RNA:NM_000579, RefSeq RNA:NM_001100168, UCSC Genome Browser:NM_000579, UniProtKB:P51681, UniProtKB:Q38L21 No chr3 46411633 46417697 46370142 46376206 +PA26171 1235 HGNC:1607 ENSG00000112486 C-C motif chemokine receptor 6 CCR6 chemokine (C-C motif) receptor 6 BN-1, CD196, CKR-L3, CMKBR6, DCR2, DRY-6, GPR-CY4, GPR29, STRL22 Yes No Comparative Toxicogenomics Database:1235, Ensembl:ENSG00000112486, GenAtlas:CCR6, GeneCard:CCR6, HGNC:HGNC:1607, IUPHAR Receptor:63, ModBase:P51684, NCBI Gene:1235, OMIM:601835, RefSeq DNA:NT_025741, RefSeq Protein:NP_004358, RefSeq Protein:NP_113597, RefSeq RNA:NM_004367, RefSeq RNA:NM_031409, UCSC Genome Browser:NM_004367, UniProtKB:P51684 No chr6 167525295 167554168 167111807 167139141 +PA26172 1236 HGNC:1608 ENSG00000126353 C-C motif chemokine receptor 7 CCR7 chemokine (C-C motif) receptor 7 BLR2, CD197, CDw197, CMKBR7, EBI1 Yes No Comparative Toxicogenomics Database:1236, Ensembl:ENSG00000126353, GenAtlas:CCR7, GeneCard:CCR7, HGNC:HGNC:1608, HumanCyc Gene:HS05013, IUPHAR Receptor:64, ModBase:P32248, NCBI Gene:1236, OMIM:600242, RefSeq DNA:NT_010783, RefSeq Protein:NP_001829, RefSeq RNA:NM_001838, UCSC Genome Browser:NM_001838, UniProtKB:A0N0Q0, UniProtKB:P32248 No chr17 38710021 38721736 40553769 40565484 +PA26173 1237 HGNC:1609 ENSG00000179934 C-C motif chemokine receptor 8 CCR8 chemokine (C-C motif) receptor 8 CDw198, CKR-L1, CMKBR8, CMKBRL2, CY6, GPR-CY6, TER1 Yes No Comparative Toxicogenomics Database:1237, Ensembl:ENSG00000179934, GenAtlas:CCR8, GeneCard:CCR8, HGNC:HGNC:1609, HumanCyc Gene:HS11433, IUPHAR Receptor:65, ModBase:P51685, NCBI Gene:1237, OMIM:601834, RefSeq DNA:NT_022517, RefSeq Protein:NP_005192, RefSeq RNA:NM_005201, UCSC Genome Browser:NM_005201, UniProtKB:P51685 No chr3 39371197 39375171 39329706 39333680 +PA26174 10803 HGNC:1610 ENSG00000173585 C-C motif chemokine receptor 9 CCR9 chemokine (C-C motif) receptor 9 CDw199, GPR-9-6, GPR28 Yes No Comparative Toxicogenomics Database:10803, Ensembl:ENSG00000173585, GenAtlas:CCR9, GeneCard:CCR9, HGNC:HGNC:1610, HumanCyc Gene:HS10694, IUPHAR Receptor:66, ModBase:P51686, NCBI Gene:10803, OMIM:604738, RefSeq DNA:NT_022517, RefSeq Protein:NP_006632, RefSeq Protein:NP_112477, RefSeq RNA:NM_006641, RefSeq RNA:NM_031200, RefSeq RNA:NR_036525, UCSC Genome Browser:NM_006641, UniProtKB:P51686 No chr3 45927996 45944667 45886504 45903177 +PA26175 9034 HGNC:1612 ENSG00000121797 C-C motif chemokine receptor like 2 CCRL2 atypical chemokine receptor 5, chemokine (C-C motif) receptor-like 2 ACKR5, CKRX, CRAM-A, CRAM-B, HCR Yes No Comparative Toxicogenomics Database:9034, Ensembl:ENSG00000121797, GenAtlas:CCRL2, GeneCard:CCRL2, HGNC:HGNC:1612, HumanCyc Gene:HS04523, IUPHAR Receptor:78, ModBase:O00421, NCBI Gene:9034, OMIM:608379, RefSeq DNA:NT_022517, RefSeq Protein:NP_001124382, RefSeq Protein:NP_003956, RefSeq RNA:NM_001130910, RefSeq RNA:NM_003965, UCSC Genome Browser:NM_003965, UniProtKB:B2R8C0, UniProtKB:B4DKQ8, UniProtKB:O00421 No chr3 46448721 46454488 46407166 46409523 +PA26177 9973 HGNC:1613 ENSG00000173992 copper chaperone for superoxide dismutase CCS Yes No Comparative Toxicogenomics Database:9973, Ensembl:ENSG00000173992, GenAtlas:CCS, GeneCard:CCS, HGNC:HGNC:1613, HumanCyc Gene:HS10755, ModBase:O14618, NCBI Gene:9973, OMIM:603864, RefSeq DNA:NG_008733, RefSeq DNA:NT_167190, RefSeq Protein:NP_005116, RefSeq RNA:NM_005125, UCSC Genome Browser:NM_005125, UniProtKB:O14618 No chr11 66360630 66373490 66593162 66606019 +PA142672480 126731 HGNC:29578 ENSG00000154429 centriole, cilia and spindle associated protein CCSAP """centriole and spindle-associated protein"", ""centriole, cilia and spindle-associated protein""" C1orf96, CSAP, FLJ41471 Yes No Ensembl:ENSG00000154429, GeneCard:C1orf96, HGNC:HGNC:29578, HumanCyc Gene:HS14521, ModBase:Q6IQ19, NCBI Gene:126731, RefSeq DNA:NT_167186, RefSeq Protein:NP_660300, RefSeq RNA:NM_145257, UniProtKB:Q6IQ19 No chr1 229456752 229478688 229321005 229342941 +PA165663936 401145 HGNC:29349 ENSG00000184305 coiled-coil serine rich protein 1 CCSER1 coiled-coil serine-rich protein 1 FAM190A, KIAA1680 Yes No Ensembl:ENSG00000184305, GeneCard:FAM190A, HGNC:HGNC:29349, NCBI Gene:401145, RefSeq DNA:NT_016354, RefSeq Protein:NP_001138537, RefSeq Protein:NP_997374, RefSeq RNA:NM_001145065, RefSeq RNA:NM_207491, UniProtKB:Q9C0I3 No chr4 91048684 92523370 90127394 91602219 +PA165548597 54462 HGNC:29197 ENSG00000107771 coiled-coil serine rich protein 2 CCSER2 coiled-coil serine-rich protein 2 FAM190B, KIAA1128 Yes No Ensembl:ENSG00000107771, GeneCard:FAM190B, HGNC:HGNC:29197, HumanCyc Gene:HS12660, ModBase:Q9H7U1, NCBI Gene:54462, RefSeq DNA:NT_030059, RefSeq Protein:NP_061872, RefSeq RNA:NM_018999, UniProtKB:Q9H7U1 No chr10 86088342 86278276 84328558 84518521 +PA26179 10576 HGNC:1615 ENSG00000166226 chaperonin containing TCP1 subunit 2 CCT2 chaperonin containing TCP1, subunit 2 (beta) Cctb Yes No Comparative Toxicogenomics Database:10576, Ensembl:ENSG00000166226, GenAtlas:CCT2, GeneCard:CCT2, HGNC:HGNC:1615, HumanCyc Gene:HS09359, ModBase:P78371, NCBI Gene:10576, OMIM:605139, RefSeq DNA:NT_029419, RefSeq Protein:NP_001185771, RefSeq Protein:NP_006422, RefSeq RNA:NM_001198842, RefSeq RNA:NM_006431, UCSC Genome Browser:NM_006431, UniProtKB:P78371 No chr12 69979206 70010595 69585428 69601577 +PA26180 7203 HGNC:1616 ENSG00000163468 chaperonin containing TCP1 subunit 3 CCT3 chaperonin containing TCP1, subunit 3 (gamma) Cctg, TRIC5 Yes Yes Comparative Toxicogenomics Database:7203, Ensembl:ENSG00000163468, GenAtlas:CCT3, GeneCard:CCT3, HGNC:HGNC:1616, HumanCyc Gene:HS08855, ModBase:P49368, NCBI Gene:7203, OMIM:600114, RefSeq DNA:NT_004487, RefSeq Protein:NP_001008800, RefSeq Protein:NP_001008883, RefSeq Protein:NP_005989, RefSeq RNA:NM_001008800, RefSeq RNA:NM_001008883, RefSeq RNA:NM_005998, RefSeq RNA:NR_036564, RefSeq RNA:NR_036565, UCSC Genome Browser:NM_005998, UniProtKB:A6NE14, UniProtKB:B3KX11, UniProtKB:P49368 No chr1 156278752 156308206 156308961 156338415 +PA164717774 646440 HGNC:35129 ENSG00000253951 chaperonin containing TCP1, subunit 3 (gamma) pseudogene 1 CCT3P1 Yes No Ensembl:ENSG00000253951, HGNC:HGNC:35129, NCBI Gene:646440 No chr8 16133186 16133786 16275677 16276277 +PA26181 10575 HGNC:1617 ENSG00000115484 chaperonin containing TCP1 subunit 4 CCT4 chaperonin containing TCP1, subunit 4 (delta) Cctd Yes No Comparative Toxicogenomics Database:10575, Ensembl:ENSG00000115484, GenAtlas:CCT4, GeneCard:CCT4, HGNC:HGNC:1617, HumanCyc Gene:HS03896, ModBase:P50991, NCBI Gene:10575, OMIM:605142, RefSeq DNA:NT_022184, RefSeq Protein:NP_006421, RefSeq RNA:NM_006430, UCSC Genome Browser:NM_006430, UniProtKB:P50991 No chr2 62095262 62115806 61868127 61888671 +PA164717775 650172 HGNC:35151 ENSG00000242703 chaperonin containing TCP1, subunit 4 (delta) pseudogene 1 CCT4P1 Yes No Ensembl:ENSG00000242703, HGNC:HGNC:35151, NCBI Gene:650172 No chr7 140697740 140699594 140997744 140999788 +PA164717776 100131638 HGNC:35141 ENSG00000225569 chaperonin containing TCP1, subunit 4 (delta) pseudogene 2 CCT4P2 Yes No Ensembl:ENSG00000225569, HGNC:HGNC:35141, NCBI Gene:100131638 No chrX 64490792 64492901 65270912 65273021 +PA26182 22948 HGNC:1618 ENSG00000150753 chaperonin containing TCP1 subunit 5 CCT5 """CCT-epsilon"", ""chaperonin containing TCP1, subunit 5 (epsilon)""" CCTE, KIAA0098 Yes No Comparative Toxicogenomics Database:22948, Ensembl:ENSG00000150753, GenAtlas:CCT5, GeneCard:CCT5, HGNC:HGNC:1618, HumanCyc Gene:HS07685, ModBase:P48643, NCBI Gene:22948, OMIM:256840, OMIM:610150, RefSeq DNA:NG_012160, RefSeq DNA:NT_006576, RefSeq Protein:NP_036205, RefSeq RNA:NM_012073, UCSC Genome Browser:NM_012073, UniProtKB:P48643 No chr5 10250041 10266501 10249921 10266412 +PA164717777 402226 HGNC:35135 ENSG00000250444 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 1 CCT5P1 Yes No Ensembl:ENSG00000250444, HGNC:HGNC:35135, NCBI Gene:402226 No chr5 114847774 114849394 115512180 115513895 +PA164717778 390415 HGNC:35139 ENSG00000230584 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 2 CCT5P2 Yes No Ensembl:ENSG00000230584, HGNC:HGNC:35139, NCBI Gene:390415 No chr13 79483065 79484682 78909025 78910736 +PA26183 908 HGNC:1620 ENSG00000146731 chaperonin containing TCP1 subunit 6A CCT6A chaperonin containing TCP1, subunit 6A (zeta 1) CCT6, Cctz, HTR3, TCP20, TCPZ, TTCP20 Yes No Comparative Toxicogenomics Database:908, Ensembl:ENSG00000146731, GenAtlas:CCT6A, GeneCard:CCT6A, HGNC:HGNC:1620, HumanCyc Gene:HS07369, ModBase:P40227, NCBI Gene:908, OMIM:104613, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_001009186, RefSeq Protein:NP_001753, RefSeq RNA:NM_001009186, RefSeq RNA:NM_001762, UCSC Genome Browser:NM_001762, UniProtKB:A6NCD2, UniProtKB:P40227 No chr7 56119378 56131682 56051685 56063989 +PA26184 10693 HGNC:1621 ENSG00000132141 chaperonin containing TCP1 subunit 6B CCT6B chaperonin containing TCP1, subunit 6B (zeta 2) Cctz2, TSA303 Yes No Comparative Toxicogenomics Database:10693, Ensembl:ENSG00000132141, GenAtlas:CCT6B, GeneCard:CCT6B, HGNC:HGNC:1621, HumanCyc Gene:HS05597, ModBase:Q92526, NCBI Gene:10693, OMIM:610730, RefSeq DNA:NT_010799, RefSeq Protein:NP_001180458, RefSeq Protein:NP_001180459, RefSeq Protein:NP_006575, RefSeq RNA:NM_001193529, RefSeq RNA:NM_001193530, RefSeq RNA:NM_006584, UCSC Genome Browser:NM_006584, UniProtKB:Q92526 No chr17 33254878 33307968 34927859 34981221 +PA147358194 643253 HGNC:33094 ENSG00000228409 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1 CCT6P1 Yes No Ensembl:ENSG00000228409, HGNC:HGNC:33094, NCBI Gene:643253, RefSeq RNA:NR_003110 No chr7 65216092 65228662 65751105 65763675 +PA164717779 391739 HGNC:35150 ENSG00000250526 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 2 CCT6P2 Yes No Ensembl:ENSG00000250526, HGNC:HGNC:35150, NCBI Gene:391739 No chr5 14639532 14641127 14639212 14641078 +PA164717780 643180 HGNC:35137 ENSG00000234585 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 CCT6P3 Yes No Ensembl:ENSG00000234585, HGNC:HGNC:35137, NCBI Gene:643180 No chr7 64498732 64535091 65038354 65074713 +PA164717781 100130481 HGNC:35148 ENSG00000232610 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 4 CCT6P4 Yes No Ensembl:ENSG00000232610, HGNC:HGNC:35148, NCBI Gene:100130481 No chr3 190432497 190435166 190714708 190717377 +PA26185 10574 HGNC:1622 ENSG00000135624 chaperonin containing TCP1 subunit 7 CCT7 chaperonin containing TCP1, subunit 7 (eta) Ccth, Nip7-1 Yes No Comparative Toxicogenomics Database:10574, Ensembl:ENSG00000135624, GenAtlas:CCT7, GeneCard:CCT7, HGNC:HGNC:1622, HumanCyc Gene:HS06038, ModBase:Q99832, NCBI Gene:10574, OMIM:605140, RefSeq DNA:NT_022184, RefSeq Protein:NP_001009570, RefSeq Protein:NP_001159756, RefSeq Protein:NP_001159757, RefSeq Protein:NP_006420, RefSeq RNA:NM_001009570, RefSeq RNA:NM_001166284, RefSeq RNA:NM_001166285, RefSeq RNA:NM_006429, RefSeq RNA:NR_029402, RefSeq RNA:NR_029403, UCSC Genome Browser:NM_006429, UniProtKB:A8MWI8, UniProtKB:B7Z4T9, UniProtKB:B7Z4Z7, UniProtKB:Q99832 No chr2 73461364 73480150 73233431 73253022 +PA164717782 442267 HGNC:35149 ENSG00000217733 chaperonin containing TCP1, subunit 7 (eta) pseudogene 1 CCT7P1 Yes No Ensembl:ENSG00000217733, HGNC:HGNC:35149, NCBI Gene:442267 No chr6 150201030 150202858 149879894 149881722 +PA26186 10694 HGNC:1623 ENSG00000156261 chaperonin containing TCP1 subunit 8 CCT8 chaperonin containing TCP1, subunit 8 (theta) C21orf112, Cctq, PRED71 Yes No Comparative Toxicogenomics Database:10694, Ensembl:ENSG00000156261, GenAtlas:CCT8, GeneCard:CCT8, HGNC:HGNC:1623, HumanCyc Gene:HS08111, ModBase:P50990, NCBI Gene:10694, RefSeq DNA:NT_011512, RefSeq Protein:NP_006576, RefSeq RNA:NM_006585, UCSC Genome Browser:NM_006585, UniProtKB:P50990 No chr21 30428647 30446010 29056322 29073797 +PA162382093 155100 HGNC:32153 ENSG00000020219 chaperonin containing TCP1, subunit 8 (theta)-like 1, pseudogene CCT8L1P Yes No Ensembl:ENSG00000020219, GeneCard:CCT8L1P, HGNC:HGNC:32153, ModBase:A6NM43, NCBI Gene:155100, RefSeq DNA:NG_012242, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001025037, RefSeq RNA:NM_001029866 No chr7 152142302 152144354 152445217 152447269 +PA162382100 150160 HGNC:15553 ENSG00000198445 chaperonin containing TCP1 subunit 8 like 2 CCT8L2 chaperonin containing TCP1, subunit 8 (theta)-like 2 CESK1 Yes No Ensembl:ENSG00000198445, GeneCard:CCT8L2, HGNC:HGNC:15553, ModBase:Q96SF2, NCBI Gene:150160, RefSeq DNA:NT_011519, RefSeq DNA:NT_079596, RefSeq Protein:NP_055221, RefSeq RNA:NM_014406, UniProtKB:Q96SF2 No chr22 17071648 17073700 16590758 16592810 +PA164717783 644131 HGNC:35144 ENSG00000226015 chaperonin containing TCP1, subunit 8 (theta) pseudogene 1 CCT8P1 Yes No Ensembl:ENSG00000226015, HGNC:HGNC:35144, NCBI Gene:644131 No chr1 146674705 146676565 147203124 147204984 +PA165617711 51622 HGNC:21691 ENSG00000122674 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated CCZ1 CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) C7orf28A, CCZ1A, CGI-43 Yes No Ensembl:ENSG00000122674, GeneCard:CCZ1, HGNC:HGNC:21691, HumanCyc Gene:HS13065, HumanCyc Gene:HS14163, NCBI Gene:51622, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_056437, RefSeq RNA:NM_015622, UniProtKB:O95766 No chr7 5938341 5965605 5898710 5925974 +PA134930339 221960 HGNC:21717 ENSG00000122674, ENSG00000146574 CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated CCZ1B CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae), similar to CGI-43 protein C7orf28B, DKFZP586I1023, H_NH0577018.2, MGC19819 Yes No Ensembl:ENSG00000122674, Ensembl:ENSG00000146574, GeneCard:C7orf28B, HGNC:HGNC:21717, NCBI Gene:221960, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_932765, RefSeq RNA:NM_198097 No chr7 6838566 6865926 6798935 6826295 +PA29762 9398 HGNC:5949 ENSG00000134256 CD101 molecule CD101 IGSF2, V7 Yes No Ensembl:ENSG00000134256, GenAtlas:IGSF2, GeneCard:CD101, GeneCard:IGSF2, HGNC:HGNC:5949, HumanCyc Gene:HS05845, ModBase:Q93033, NCBI Gene:9398, OMIM:604516, RefSeq DNA:NT_019273, RefSeq DNA:NT_032977, RefSeq Protein:NP_004249, RefSeq RNA:NM_004258, UCSC Genome Browser:NM_004258, UniProtKB:Q93033 No chr1 117544372 117579173 116990423 117037481 +PA134949237 135228 HGNC:21685 ENSG00000156535 CD109 molecule CD109 CPAMD7, DKFZp762L1111, FLJ38569 Yes No Comparative Toxicogenomics Database:135228, Ensembl:ENSG00000156535, GeneCard:CD109, HGNC:HGNC:21685, HumanCyc Gene:HS08139, ModBase:Q8TDJ2, NCBI Gene:135228, OMIM:608859, RefSeq DNA:NT_007299, RefSeq Protein:NP_001153059, RefSeq Protein:NP_001153060, RefSeq Protein:NP_598000, RefSeq RNA:NM_001159587, RefSeq RNA:NM_001159588, RefSeq RNA:NM_133493, UniProtKB:Q6YHK3 No chr6 74405508 74538041 73679192 73828317 +PA26188 929 HGNC:1628 ENSG00000170458 CD14 molecule CD14 Yes Yes Comparative Toxicogenomics Database:929, Ensembl:ENSG00000170458, GenAtlas:CD14, GeneCard:CD14, HGNC:HGNC:1628, HumanCyc Gene:HS10133, ModBase:P08571, NCBI Gene:929, OMIM:158120, RefSeq DNA:NG_023178, RefSeq DNA:NT_029289, RefSeq Protein:NP_000582, RefSeq Protein:NP_001035110, RefSeq Protein:NP_001167575, RefSeq Protein:NP_001167576, RefSeq RNA:NM_000591, RefSeq RNA:NM_001040021, RefSeq RNA:NM_001174104, RefSeq RNA:NM_001174105, UCSC Genome Browser:NM_000591, UniProtKB:P08571 No chr5 140011313 140013286 140631728 140633701 +PA26189 977 HGNC:1630 ENSG00000177697 CD151 molecule (Raph blood group) CD151 PETA-3, RAPH, SFA-1, TSPAN24 Yes No Comparative Toxicogenomics Database:977, Ensembl:ENSG00000177697, GenAtlas:CD151, GeneCard:CD151, HGNC:HGNC:1630, HumanCyc Gene:HS11205, NCBI Gene:977, OMIM:179620, OMIM:602243, OMIM:609057, RefSeq DNA:NG_007478, RefSeq DNA:NT_009237, RefSeq Protein:NP_001034579, RefSeq Protein:NP_004348, RefSeq Protein:NP_620598, RefSeq Protein:NP_620599, RefSeq RNA:NM_001039490, RefSeq RNA:NM_004357, RefSeq RNA:NM_139029, RefSeq RNA:NM_139030, UCSC Genome Browser:NM_004357, UniProtKB:P48509, UniProtKB:Q6ZNZ0 No chr11 832952 838840 832952 838835 +PA134943137 11126 HGNC:17013 ENSG00000117281 CD160 molecule CD160 BY55, NK1, NK28 Yes No Ensembl:ENSG00000117281, GeneCard:CD160, HGNC:HGNC:17013, HumanCyc Gene:HS04113, ModBase:O95971, NCBI Gene:11126, OMIM:604463, RefSeq DNA:NT_167185, RefSeq Protein:NP_008984, RefSeq RNA:NM_007053, UniProtKB:O95971, UniProtKB:Q6FH89 No chr1 145695798 145715639 145719312 145739288 +PA26190 9332 HGNC:1631 ENSG00000177575 CD163 molecule CD163 M130, MM130, SCARI1 Yes No Comparative Toxicogenomics Database:9332, Ensembl:ENSG00000177575, GenAtlas:CD163, GeneCard:CD163, HGNC:HGNC:1631, HumanCyc Gene:HS11187, ModBase:Q86VB7, NCBI Gene:9332, OMIM:605545, RefSeq DNA:NT_009714, RefSeq Protein:NP_004235, RefSeq Protein:NP_981961, RefSeq RNA:NM_004244, RefSeq RNA:NM_203416, UCSC Genome Browser:NM_004244, UniProtKB:Q86VB7 No chr12 7623412 7656414 7470816 7503818 +PA142672145 283316 HGNC:30375 ENSG00000177675 CD163 molecule like 1 CD163L1 CD163 molecule-like 1 CD163B, M160, SCARI2, WC1 Yes No Comparative Toxicogenomics Database:283316, Ensembl:ENSG00000177675, GeneCard:CD163L1, HGNC:HGNC:30375, ModBase:Q9NR16, NCBI Gene:283316, OMIM:606079, RefSeq DNA:NT_009714, RefSeq Protein:NP_777601, RefSeq RNA:NM_174941, UniProtKB:Q2M3B7, UniProtKB:Q9NR16 No chr12 7507556 7596778 7320510 7444185 +PA26191 8763 HGNC:1632 ENSG00000135535 CD164 molecule CD164 """CD164 molecule, sialomucin"", ""Endolyn"", ""Sialomucin core protein 24"", ""deafness, autosomal dominant 66"", ""multi-glycosylated core protein 24""" DFNA66, MGC-24, MGC-24v, MUC-24 Yes No Comparative Toxicogenomics Database:8763, Ensembl:ENSG00000135535, GenAtlas:CD164, GeneCard:CD164, HGNC:HGNC:1632, HumanCyc Gene:HS06026, NCBI Gene:8763, OMIM:603356, RefSeq DNA:NT_025741, RefSeq Protein:NP_001135873, RefSeq Protein:NP_001135874, RefSeq Protein:NP_001135875, RefSeq Protein:NP_001135876, RefSeq Protein:NP_006007, RefSeq RNA:NM_001142401, RefSeq RNA:NM_001142402, RefSeq RNA:NM_001142403, RefSeq RNA:NM_001142404, RefSeq RNA:NM_006016, UCSC Genome Browser:NM_006016, UniProtKB:Q04900 No chr6 109687717 109703762 109366514 109382559 +PA142672146 388611 HGNC:32043 ENSG00000174950 CD164 molecule like 2 CD164L2 CD164 sialomucin-like 2 Yes No Ensembl:ENSG00000174950, GeneCard:CD164L2, HGNC:HGNC:32043, NCBI Gene:388611, RefSeq DNA:NT_004610, RefSeq Protein:NP_997280, RefSeq RNA:NM_207397, UniProtKB:Q6UWJ8 No chr1 27705596 27709823 27379100 27383333 +PA142672147 57126 HGNC:30072 ENSG00000204936 CD177 molecule CD177 polycythemia rubra vera 1 HNA2A, NB1, PRV1 Yes No Ensembl:ENSG00000204936, GeneCard:CD177, HGNC:HGNC:30072, NCBI Gene:57126, OMIM:162860, RefSeq DNA:NT_011109, RefSeq Protein:NP_065139, RefSeq RNA:NM_020406, UniProtKB:Q8N6Q3 No chr19 43857825 43867480 43353659 43366075 +PA30490 4064 HGNC:6726 ENSG00000134061 CD180 molecule CD180 LY64, Ly78, RP105 Yes No Comparative Toxicogenomics Database:4064, Ensembl:ENSG00000134061, GenAtlas:CD180, GeneCard:CD180, HGNC:HGNC:6726, HumanCyc Gene:HS05813, ModBase:Q99467, NCBI Gene:4064, OMIM:602226, RefSeq DNA:NT_006713, RefSeq Protein:NP_005573, RefSeq RNA:NM_005582, UCSC Genome Browser:NM_005582, UniProtKB:Q99467 No chr5 66477205 66492617 67182275 67196789 +PA26192 930 HGNC:1633 ENSG00000177455 CD19 molecule CD19 Yes No Comparative Toxicogenomics Database:930, Ensembl:ENSG00000177455, GenAtlas:CD19, GeneCard:CD19, HGNC:HGNC:1633, HumanCyc Gene:HS11169, ModBase:P15391, NCBI Gene:930, OMIM:107265, RefSeq DNA:NG_007275, RefSeq DNA:NT_010393, RefSeq Protein:NP_001171569, RefSeq Protein:NP_001761, RefSeq RNA:NM_001178098, RefSeq RNA:NM_001770, UCSC Genome Browser:NM_001770, UniProtKB:P15391 No chr16 28943082 28950668 28931735 28939347 +PA26193 909 HGNC:1634 ENSG00000158477 CD1a molecule CD1A CD1 Yes No Comparative Toxicogenomics Database:909, Ensembl:ENSG00000158477, GenAtlas:CD1A, GeneCard:CD1A, HGNC:HGNC:1634, HumanCyc Gene:HS08296, ModBase:P06126, NCBI Gene:909, OMIM:188370, RefSeq DNA:NT_004487, RefSeq Protein:NP_001754, RefSeq RNA:NM_001763, UCSC Genome Browser:NM_001763, UniProtKB:P06126 No chr1 158218119 158228059 158248329 158258269 +PA26194 910 HGNC:1635 ENSG00000158485 CD1b molecule CD1B CD1 Yes No Comparative Toxicogenomics Database:910, Ensembl:ENSG00000158485, GenAtlas:CD1B, GeneCard:CD1B, HGNC:HGNC:1635, HumanCyc Gene:HS08299, ModBase:P29016, NCBI Gene:910, OMIM:188360, RefSeq DNA:NT_004487, RefSeq Protein:NP_001755, RefSeq RNA:NM_001764, UCSC Genome Browser:NM_001764, UniProtKB:P29016 No chr1 158297740 158301321 158286841 158332038 +PA26195 911 HGNC:1636 ENSG00000158481 CD1c molecule CD1C CD1 Yes No Comparative Toxicogenomics Database:911, Ensembl:ENSG00000158481, GenAtlas:CD1C, GeneCard:CD1C, HGNC:HGNC:1636, HumanCyc Gene:HS08298, ModBase:P29017, NCBI Gene:911, OMIM:188340, RefSeq DNA:NT_004487, RefSeq Protein:NP_001756, RefSeq RNA:NM_001765, UCSC Genome Browser:NM_001765, UniProtKB:P29017 No chr1 158259563 158264564 158289773 158294774 +PA26196 912 HGNC:1637 ENSG00000158473 CD1d molecule CD1D Yes No Comparative Toxicogenomics Database:912, Ensembl:ENSG00000158473, GenAtlas:CD1D, GeneCard:CD1D, HGNC:HGNC:1637, HumanCyc Gene:HS08295, ModBase:P15813, NCBI Gene:912, OMIM:188410, RefSeq DNA:NT_004487, RefSeq Protein:NP_001757, RefSeq RNA:NM_001766, UCSC Genome Browser:NM_001766, UniProtKB:P15813 No chr1 158147828 158156217 158178038 158186427 +PA26197 913 HGNC:1638 ENSG00000158488 CD1e molecule CD1E Yes No Ensembl:ENSG00000158488, GenAtlas:CD1E, GeneCard:CD1E, HGNC:HGNC:1638, HumanCyc Gene:HS08301, ModBase:P15812, NCBI Gene:913, OMIM:188411, RefSeq DNA:NT_004487, RefSeq Protein:NP_001036048, RefSeq Protein:NP_001036049, RefSeq Protein:NP_001036050, RefSeq Protein:NP_001036051, RefSeq Protein:NP_001036052, RefSeq Protein:NP_001172036, RefSeq Protein:NP_001172037, RefSeq Protein:NP_001172039, RefSeq Protein:NP_001172041, RefSeq Protein:NP_001172042, RefSeq Protein:NP_001172043, RefSeq Protein:NP_001172044, RefSeq Protein:NP_112155, RefSeq RNA:NM_001042583, RefSeq RNA:NM_001042584, RefSeq RNA:NM_001042585, RefSeq RNA:NM_001042586, RefSeq RNA:NM_001042587, RefSeq RNA:NM_001185107, RefSeq RNA:NM_001185108, RefSeq RNA:NM_001185110, RefSeq RNA:NM_001185112, RefSeq RNA:NM_001185113, RefSeq RNA:NM_001185114, RefSeq RNA:NM_001185115, RefSeq RNA:NM_030893, UCSC Genome Browser:NM_030893, UniProtKB:P15812 No chr1 158323486 158327343 158353157 158357554 +PA26198 914 HGNC:1639 ENSG00000116824 CD2 molecule CD2 SRBC Yes No Comparative Toxicogenomics Database:914, Ensembl:ENSG00000116824, GenAtlas:CD2, GeneCard:CD2, HGNC:HGNC:1639, HumanCyc Gene:HS04060, ModBase:P06729, NCBI Gene:914, OMIM:186990, RefSeq DNA:NT_032977, RefSeq Protein:NP_001758, RefSeq RNA:NM_001767, UCSC Genome Browser:NM_001767, UniProtKB:P06729, UniProtKB:Q53F96 No chr1 117297057 117311851 116754464 116769229 +PA30911 4345 HGNC:7203 ENSG00000091972 CD200 molecule CD200 MOX1, MOX2, MRC, OX-2 Yes No Comparative Toxicogenomics Database:4345, Ensembl:ENSG00000091972, GenAtlas:CD200, GeneCard:CD200, HGNC:HGNC:7203, HumanCyc Gene:HS01749, NCBI Gene:4345, OMIM:155970, RefSeq DNA:NT_005612, RefSeq Protein:NP_001004196, RefSeq Protein:NP_005935, RefSeq RNA:NM_001004196, RefSeq RNA:NM_005944, UCSC Genome Browser:NM_005944, UniProtKB:P41217 No chr3 112051194 112081659 112332224 112362812 +PA134922446 131450 HGNC:24235 ENSG00000163606 CD200 receptor 1 CD200R1 CD200R, HCRTR2, MOX2R, OX2R Yes No Ensembl:ENSG00000163606, GeneCard:CD200R1, HGNC:HGNC:24235, HumanCyc Gene:HS08892, ModBase:Q8TD52, NCBI Gene:131450, OMIM:607546, RefSeq DNA:NT_005612, RefSeq Protein:NP_620161, RefSeq Protein:NP_620385, RefSeq Protein:NP_620386, RefSeq Protein:NP_740750, RefSeq RNA:NM_138806, RefSeq RNA:NM_138939, RefSeq RNA:NM_138940, RefSeq RNA:NM_170780, UniProtKB:Q8TD46 No chr3 112641532 112693950 112922685 112975090 +PA164717784 344807 HGNC:24665 ENSG00000206531 CD200 receptor 1 like CD200R1L CD200 receptor 1-like, CD200 receptor 2 CD200R2, CD200RLa Yes No Ensembl:ENSG00000206531, GeneCard:CD200R1L, HGNC:HGNC:24665, ModBase:Q6Q8B3, NCBI Gene:344807, RefSeq DNA:NT_005612, RefSeq Protein:NP_001008784, RefSeq Protein:NP_001186144, RefSeq RNA:NM_001008784, RefSeq RNA:NM_001199215, UniProtKB:Q6Q8B3 No chr3 112534556 112564797 112814925 112847004 +PA134986203 50489 HGNC:17935 ENSG00000116031 CD207 molecule CD207 """C-type lectin domain family 4 member K"", ""CD207 molecule, langerin"", ""Langerhans cell specific c-type lectin""" CLEC4K, Langerin Yes No Ensembl:ENSG00000116031, GeneCard:CD207, HGNC:HGNC:17935, HumanCyc Gene:HS03972, ModBase:Q9UJ71, NCBI Gene:50489, OMIM:604862, OMIM:613393, RefSeq DNA:NT_022184, RefSeq Protein:NP_056532, RefSeq RNA:NM_015717, UniProtKB:Q9UJ71 No chr2 71057343 71062953 70825248 70860787 +PA26199 30835 HGNC:1641 ENSG00000090659 CD209 molecule CD209 CDSIGN, CLEC4L, DC-SIGN, DC-SIGN1, hDC-SIGN Yes No Comparative Toxicogenomics Database:30835, Ensembl:ENSG00000090659, GenAtlas:CD209, GeneCard:CD209, HGNC:HGNC:1641, HumanCyc Gene:HS01701, ModBase:Q96QQ4, NCBI Gene:30835, OMIM:604672, OMIM:607948, OMIM:609423, RefSeq DNA:NG_012167, RefSeq DNA:NT_077812, RefSeq Protein:NP_001138365, RefSeq Protein:NP_001138366, RefSeq Protein:NP_001138367, RefSeq Protein:NP_001138368, RefSeq Protein:NP_001138369, RefSeq Protein:NP_001138371, RefSeq Protein:NP_066978, RefSeq RNA:NM_001144893, RefSeq RNA:NM_001144894, RefSeq RNA:NM_001144895, RefSeq RNA:NM_001144896, RefSeq RNA:NM_001144897, RefSeq RNA:NM_001144899, RefSeq RNA:NM_021155, RefSeq RNA:NR_026692, UCSC Genome Browser:NM_021155, UniProtKB:A6NK99, UniProtKB:B2R907, UniProtKB:B4E2A8, UniProtKB:Q9NNX6 No chr19 7804879 7812499 7739993 7747609 +PA26201 933 HGNC:1643 ENSG00000012124 CD22 molecule CD22 sialic acid binding Ig-like lectin 2 SIGLEC-2, SIGLEC2 Yes No Ensembl:ENSG00000012124, GenAtlas:CD22, GeneCard:CD22, HGNC:HGNC:1643, HumanCyc Gene:HS00328, ModBase:Q9UQA6, NCBI Gene:933, OMIM:107266, RefSeq DNA:NT_011109, RefSeq Protein:NP_001172028, RefSeq Protein:NP_001172029, RefSeq Protein:NP_001172030, RefSeq Protein:NP_001762, RefSeq RNA:NM_001185099, RefSeq RNA:NM_001185100, RefSeq RNA:NM_001185101, RefSeq RNA:NM_001771, UCSC Genome Browser:NM_001771, UniProtKB:P20273, UniProtKB:Q0EAF5 No chr19 35820069 35838264 35329166 35347361 +PA134911130 10666 HGNC:16961 ENSG00000150637 CD226 molecule CD226 DNAM-1, DNAM1, PTA1, TLiSA1 Yes No Comparative Toxicogenomics Database:10666, Ensembl:ENSG00000150637, GeneCard:CD226, HGNC:HGNC:16961, HumanCyc Gene:HS07680, ModBase:Q15762, NCBI Gene:10666, OMIM:605397, RefSeq DNA:NT_025028, RefSeq Protein:NP_006557, RefSeq RNA:NM_006566, UniProtKB:Q15762 No chr18 67530192 67624412 69860228 69962086 +PA26202 100133941 HGNC:1645 ENSG00000272398 CD24 molecule CD24 CD24A Yes No Ensembl:ENSG00000272398, GenAtlas:CD24, GeneCard:CD24, HGNC:HGNC:1645, NCBI Gene:100133941, OMIM:126200, OMIM:600074, RefSeq DNA:NT_011875, RefSeq Protein:NP_037362, RefSeq RNA:NM_013230, UCSC Genome Browser:NM_013230, UniProtKB:P25063 No chr6 274454 280365 106969831 106976855 +PA134905192 51744 HGNC:18171 ENSG00000122223 CD244 molecule CD244 CD244 molecule, natural killer cell receptor 2B4 2B4, NAIL, NKR2B4, Nmrk, SLAMF4 Yes No Ensembl:ENSG00000122223, GeneCard:CD244, HGNC:HGNC:18171, HumanCyc Gene:HS04555, ModBase:Q9BZW8, NCBI Gene:51744, OMIM:180300, OMIM:605554, RefSeq DNA:NG_015991, RefSeq DNA:NT_004487, RefSeq Protein:NP_001160135, RefSeq Protein:NP_001160136, RefSeq Protein:NP_057466, RefSeq RNA:NM_001166663, RefSeq RNA:NM_001166664, RefSeq RNA:NM_016382, UniProtKB:Q9BZW8 No chr1 160799950 160832692 160830160 160862902 +PA26219 919 HGNC:1677 ENSG00000198821 CD247 molecule CD247 T-cell surface glycoprotein CD3 zeta chain CD3-ZETA, CD3H, CD3Q, CD3Z, CD3ZETA, TCRZ Yes No Comparative Toxicogenomics Database:919, Ensembl:ENSG00000198821, GenAtlas:CD247, GeneCard:CD247, HGNC:HGNC:1677, ModBase:P20963, NCBI Gene:919, OMIM:186780, OMIM:610163, RefSeq DNA:NG_007384, RefSeq DNA:NT_004487, RefSeq Protein:NP_000725, RefSeq Protein:NP_932170, RefSeq RNA:NM_000734, RefSeq RNA:NM_198053, UCSC Genome Browser:NM_000734, UniProtKB:P20963 No chr1 167399877 167487847 167430640 167518610 +PA134864533 57124 HGNC:18219 ENSG00000174807 CD248 molecule CD248 """CD248 molecule, endosialin"", ""endosialin"", ""tumor endothelial marker 1""" CD164L1, TEM1 Yes No Comparative Toxicogenomics Database:57124, Ensembl:ENSG00000174807, GeneCard:CD248, HGNC:HGNC:18219, HumanCyc Gene:HS10833, ModBase:Q9HCU0, NCBI Gene:57124, OMIM:606064, RefSeq DNA:NT_167190, RefSeq Protein:NP_065137, RefSeq RNA:NM_020404, UniProtKB:Q9HCU0 No chr11 66081958 66084515 66314487 66317044 +PA26203 935 HGNC:1646 ENSG00000236500 CD24 molecule pseudogene 1 CD24P1 Yes No Ensembl:ENSG00000236500, GenAtlas:CD24L1, GeneCard:CD24P1, HGNC:HGNC:1646, NCBI Gene:935, RefSeq DNA:NG_009856, RefSeq DNA:NT_004610 No chr1 15936477 15941441 15609982 15614946 +PA26204 936 HGNC:1647 ENSG00000261333 CD24 molecule pseudogene 2 CD24P2 Yes No Ensembl:ENSG00000261333, GenAtlas:CD24L2, GeneCard:CD24P2, HGNC:HGNC:1647, NCBI Gene:936, RefSeq DNA:NG_009857, RefSeq DNA:NT_010194 No chr15 56363537 56366289 56071339 56074088 +PA26205 937 HGNC:1648 CD24 molecule pseudogene 3 CD24P3 Yes No GenAtlas:CD24L3, GeneCard:CD24P3, HGNC:HGNC:1648, NCBI Gene:937 No chr20 30098078 30099571 +PA26206 938 HGNC:1649 ENSG00000185275 CD24 molecule pseudogene 4 CD24P4 Yes No Ensembl:ENSG00000185275, GenAtlas:CD24L4, GeneCard:CD24P4, HGNC:HGNC:1649, NCBI Gene:938, RefSeq DNA:NG_006012, RefSeq DNA:NT_011875 No chrY 21152526 21154705 18990640 18992818 +PA162382107 939 HGNC:11922 ENSG00000139193 CD27 molecule CD27 CD27 antigen, T-cell activation antigen S152 S152, TNFRSF7, Tp55 Yes No Ensembl:ENSG00000139193, GeneCard:CD27, HGNC:HGNC:11922, HumanCyc Gene:HS06593, ModBase:P26842, NCBI Gene:939, OMIM:186711, RefSeq DNA:NT_009759, RefSeq Protein:NP_001233, RefSeq RNA:NM_001242, UniProtKB:P26842 No chr12 6554051 6560884 6444867 6451718 +PA134915280 29126 HGNC:17635 ENSG00000120217 CD274 molecule CD274 B7 homolog 1 B7-H, B7-H1, B7H1, PD-L1, PDCD1LG1, PDL1 Yes Yes Comparative Toxicogenomics Database:29126, Ensembl:ENSG00000120217, GeneCard:CD274, HGNC:HGNC:17635, HumanCyc Gene:HS04379, ModBase:Q9NZQ7, NCBI Gene:29126, OMIM:605402, RefSeq DNA:NT_008413, RefSeq Protein:NP_054862, RefSeq RNA:NM_014143, UniProtKB:Q9NZQ7 No chr9 5450503 5470567 5450503 5470567 +PA142672148 80381 HGNC:19137 ENSG00000103855 CD276 molecule CD276 B7-H3, B7H3, B7RP-2 Yes No Comparative Toxicogenomics Database:80381, Ensembl:ENSG00000103855, GeneCard:CD276, HGNC:HGNC:19137, HumanCyc Gene:HS02535, ModBase:Q5ZPR3, NCBI Gene:80381, OMIM:605715, RefSeq DNA:NT_010194, RefSeq Protein:NP_001019907, RefSeq Protein:NP_079516, RefSeq RNA:NM_001024736, RefSeq RNA:NM_025240, UniProtKB:Q5ZPR3 No chr15 73976560 74006859 73683966 73714518 +PA26207 940 HGNC:1653 ENSG00000178562 CD28 molecule CD28 T-cell-specific surface glycoprotein Yes Yes Comparative Toxicogenomics Database:940, Ensembl:ENSG00000178562, GenAtlas:CD28, GeneCard:CD28, HGNC:HGNC:1653, HumanCyc Gene:HS11297, ModBase:P10747, NCBI Gene:940, OMIM:186760, RefSeq DNA:NT_005403, RefSeq Protein:NP_006130, RefSeq RNA:NM_006139, UCSC Genome Browser:NM_006139, UniProtKB:P10747 No chr2 204571198 204603635 203706475 203739756 +PA26208 23607 HGNC:14258 ENSG00000198087 CD2 associated protein CD2AP CD2-associated protein, Cas ligand with multiple Src homology (SH) 3 domains CMS Yes No Comparative Toxicogenomics Database:23607, Ensembl:ENSG00000198087, GenAtlas:CD2AP, GeneCard:CD2AP, HGNC:HGNC:14258, ModBase:Q9Y5K6, NCBI Gene:23607, OMIM:604241, OMIM:607832, RefSeq DNA:NG_008878, RefSeq DNA:NT_007592, RefSeq Protein:NP_036252, RefSeq RNA:NM_012120, UCSC Genome Browser:NM_012120, UniProtKB:Q9Y5K6 No chr6 47445482 47594999 47477746 47627263 +PA26209 10421 HGNC:1656 ENSG00000169217 CD2 cytoplasmic tail binding protein 2 CD2BP2 """CD2 (cytoplasmic tail) binding protein 2"", ""protein phosphatase 1, regulatory subunit 59""" LIN1, PPP1R59, Snu40, U5-52K Yes No Comparative Toxicogenomics Database:10421, Ensembl:ENSG00000169217, GenAtlas:CD2BP2, GeneCard:CD2BP2, HGNC:HGNC:1656, HumanCyc Gene:HS09904, NCBI Gene:10421, OMIM:604470, RefSeq DNA:NT_010393, RefSeq Protein:NP_006101, RefSeq RNA:NM_006110, RefSeq RNA:NR_024465, UCSC Genome Browser:NM_006110, UniProtKB:O95400 No chr16 30362087 30366682 30350766 30355361 +PA142672149 11314 HGNC:19319 ENSG00000167851 CD300a molecule CD300A CMRF-35-H9, CMRF35H, IGSF12, IRC1, IRC2, Irp60 Yes No Comparative Toxicogenomics Database:11314, Ensembl:ENSG00000167851, GeneCard:CD300A, HGNC:HGNC:19319, ModBase:Q9UGN4, NCBI Gene:11314, OMIM:606790, RefSeq DNA:NT_010783, RefSeq Protein:NP_009192, RefSeq RNA:NM_007261, UniProtKB:Q9UGN4 No chr17 72462509 72480937 74466320 74484798 +PA142672150 10871 HGNC:19320 ENSG00000167850 CD300c molecule CD300C CMRF-35A, CMRF35, CMRF35A, IGSF16, LIR Yes No Ensembl:ENSG00000167850, GeneCard:CD300C, HGNC:HGNC:19320, HumanCyc Gene:HS09650, ModBase:Q08708, NCBI Gene:10871, OMIM:606786, RefSeq DNA:NT_010783, RefSeq Protein:NP_006669, RefSeq RNA:NM_006678, UniProtKB:Q08708 No chr17 72537204 72542310 74534359 74546171 +PA142672152 342510 HGNC:28874 ENSG00000186407 CD300e molecule CD300E CD300LE, CLM2, IREM2 Yes No Ensembl:ENSG00000186407, GeneCard:CD300E, HGNC:HGNC:28874, NCBI Gene:342510, OMIM:609801, RefSeq DNA:NT_010783, RefSeq Protein:NP_852114, RefSeq RNA:NM_181449, UniProtKB:Q496F6 No chr17 72606022 72619897 74609883 74623958 +PA166180588 100130520 HGNC:52292 ENSG00000284690 CD300H molecule (gene/pseudogene) CD300H Yes No Ensembl:ENSG00000284690, HGNC:HGNC:52292, NCBI Gene:100130520 No 0 0 0 0 +PA142672151 124599 HGNC:30811 ENSG00000178789 CD300 molecule like family member b CD300LB CD300 molecule-like family member b, triggering receptor expressed on myeloid cells 5 CLM7, TREM5 Yes No Comparative Toxicogenomics Database:124599, Ensembl:ENSG00000178789, GeneCard:CD300LB, HGNC:HGNC:30811, ModBase:A8K4G0, NCBI Gene:124599, OMIM:610705, RefSeq DNA:NT_010783, RefSeq Protein:NP_777552, RefSeq RNA:NM_174892, UniProtKB:A8K4G0 No chr17 72516894 72527613 74521174 74531474 +PA162382124 100131439 HGNC:16848 ENSG00000204345 CD300 molecule like family member d CD300LD CD300 molecule-like family member d CD300D, CMRF35A4 Yes No Ensembl:ENSG00000204345, GeneCard:CD300LD, HGNC:HGNC:16848, ModBase:Q6UXZ3, NCBI Gene:100131439, RefSeq DNA:NT_010783, RefSeq Protein:NP_001108624, RefSeq RNA:NM_001115152, UniProtKB:Q6UXZ3 No chr17 72576111 72588370 74579972 74592231 +PA142672153 146722 HGNC:29883 ENSG00000186074 CD300 molecule like family member f CD300LF CD300 molecule-like family member f CD300f, CLM1, IGSF13, IREM1, NKIR Yes No Comparative Toxicogenomics Database:146722, Ensembl:ENSG00000186074, GeneCard:CD300LF, HGNC:HGNC:29883, HumanCyc Gene:HS09651, ModBase:Q8NAF5, NCBI Gene:146722, OMIM:609807, RefSeq DNA:NT_010783, RefSeq Protein:NP_620587, RefSeq RNA:NM_139018, UniProtKB:Q8TDQ1 No chr17 72690447 72709169 74694308 74713059 +PA142672154 146894 HGNC:30455 ENSG00000161649 CD300 molecule like family member g CD300LG CD300 molecule-like family member g, nepmucin CLM9, Trem4 Yes No Comparative Toxicogenomics Database:146894, Ensembl:ENSG00000161649, GeneCard:CD300LG, HGNC:HGNC:30455, HumanCyc Gene:HS14870, ModBase:Q6UXG3, NCBI Gene:146894, OMIM:610520, RefSeq DNA:NT_010783, RefSeq Protein:NP_001161794, RefSeq Protein:NP_001161795, RefSeq Protein:NP_001161796, RefSeq Protein:NP_660316, RefSeq RNA:NM_001168322, RefSeq RNA:NM_001168323, RefSeq RNA:NM_001168324, RefSeq RNA:NM_145273, UniProtKB:B4DNY5, UniProtKB:C9JGW2, UniProtKB:Q6UXG3 No chr17 41924145 41940997 43846777 43863639 +PA142672141 9936 HGNC:30843 ENSG00000241399 CD302 molecule CD302 C-type lectin domain family 13, member A BIMLEC, CLEC13A, DCL-1, KIAA0022 Yes No Comparative Toxicogenomics Database:9936, Ensembl:ENSG00000241399, GeneCard:CD302, HGNC:HGNC:30843, ModBase:Q8IX05, NCBI Gene:9936, OMIM:612246, RefSeq DNA:NT_005403, RefSeq Protein:NP_001185692, RefSeq Protein:NP_001185693, RefSeq Protein:NP_055695, RefSeq RNA:NM_001198763, RefSeq RNA:NM_001198764, RefSeq RNA:NM_014880, UniProtKB:A8K5G4, UniProtKB:Q8IX05 No chr2 160625139 160655115 159768628 159798255 +PA142672142 51293 HGNC:16692 ENSG00000167775 CD320 molecule CD320 8D6 antigen, Transcobalamin receptor, soluble CD320, transcobalamin 2 receptor 8D6, 8D6A, TCII-R, TCN2R, TCblR, sCD320 Yes No Comparative Toxicogenomics Database:51293, Ensembl:ENSG00000167775, GeneCard:CD320, HGNC:HGNC:16692, HumanCyc Gene:HS09633, ModBase:Q9NPF0, NCBI Gene:51293, OMIM:606475, RefSeq DNA:NT_077812, RefSeq Protein:NP_001159367, RefSeq Protein:NP_057663, RefSeq RNA:NM_001165895, RefSeq RNA:NM_016579, UniProtKB:Q9NPF0 No chr19 8367011 8373439 8302127 8308356 +PA26210 945 HGNC:1659 ENSG00000105383 CD33 molecule CD33 sialic acid binding Ig-like lectin 3 CD33rSiglec, FLJ00391, SIGLEC-3, SIGLEC3, p67 Yes Yes Ensembl:ENSG00000105383, GenAtlas:CD33, GeneCard:CD33, HGNC:HGNC:1659, HumanCyc Gene:HS02728, ModBase:P20138, NCBI Gene:945, OMIM:159590, RefSeq DNA:NT_011109, RefSeq Protein:NP_001076087, RefSeq Protein:NP_001171079, RefSeq Protein:NP_001763, RefSeq RNA:NM_001082618, RefSeq RNA:NM_001177608, RefSeq RNA:NM_001772, UCSC Genome Browser:NM_001772, UniProtKB:B4E3P8, UniProtKB:C9JEN7, UniProtKB:P20138, UniProtKB:Q546G0 No chr19 51728335 51743274 51211054 51240019 +PA26211 947 HGNC:1662 ENSG00000174059 CD34 molecule CD34 CD34 sialomucin, Hematopoietic progenitor cell antigen CD34 Yes No Comparative Toxicogenomics Database:947, Ensembl:ENSG00000174059, GenAtlas:CD34, GeneCard:CD34, HGNC:HGNC:1662, HumanCyc Gene:HS10759, ModBase:P28906, NCBI Gene:947, OMIM:142230, RefSeq DNA:NT_167186, RefSeq Protein:NP_001020280, RefSeq Protein:NP_001764, RefSeq RNA:NM_001025109, RefSeq RNA:NM_001773, UCSC Genome Browser:NM_001773, UniProtKB:P28906 No chr1 208059883 208084742 207886538 207911338 +PA26212 948 HGNC:1663 ENSG00000135218 CD36 molecule (CD36 blood group) CD36 CD36 molecule, CD36 molecule (thrombospondin receptor), Platelet glycoprotein 4, fatty acid translocase, scavenger receptor class B member 3 FAT, GP3B, GP4, GPIIIB, GPIV, SCARB3 Yes No Comparative Toxicogenomics Database:948, Ensembl:ENSG00000135218, GenAtlas:CD36, GeneCard:CD36, HGNC:HGNC:1663, HumanCyc Gene:HS05967, ModBase:Q9BZN4, NCBI Gene:948, OMIM:173510, OMIM:248310, OMIM:608404, OMIM:610938, OMIM:611162, RefSeq DNA:NG_008192, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000063, RefSeq Protein:NP_001001547, RefSeq Protein:NP_001001548, RefSeq Protein:NP_001120915, RefSeq Protein:NP_001120916, RefSeq RNA:NM_000072, RefSeq RNA:NM_001001547, RefSeq RNA:NM_001001548, RefSeq RNA:NM_001127443, RefSeq RNA:NM_001127444, UCSC Genome Browser:NM_000072, UniProtKB:A4D1B1, UniProtKB:P16671 No chr7 80231504 80308593 80602188 80679277 +PA26213 951 HGNC:1666 ENSG00000104894 CD37 molecule CD37 TSPAN26 Yes No Comparative Toxicogenomics Database:951, Ensembl:ENSG00000104894, GenAtlas:CD37, GeneCard:CD37, HGNC:HGNC:1666, HumanCyc Gene:HS02647, NCBI Gene:951, OMIM:151523, RefSeq DNA:NT_011109, RefSeq Protein:NP_001035120, RefSeq Protein:NP_001765, RefSeq RNA:NM_001040031, RefSeq RNA:NM_001774, UCSC Genome Browser:NM_001774, UniProtKB:P11049 No chr19 49838632 49843863 49335314 49340608 +PA26214 952 HGNC:1667 ENSG00000004468 CD38 molecule CD38 ADP-ribosyl cyclase 1, NAD(+) nucleosidase cADPR1 Yes Yes Comparative Toxicogenomics Database:952, Ensembl:ENSG00000004468, GenAtlas:CD38, GeneCard:CD38, HGNC:HGNC:1667, HumanCyc Gene:HS00103, ModBase:P28907, NCBI Gene:952, OMIM:107270, RefSeq DNA:NT_006316, RefSeq Protein:NP_001766, RefSeq RNA:NM_001775, UCSC Genome Browser:NM_001775, UniProtKB:P28907 No chr4 15779921 15850706 15778265 15853243 +PA26215 915 HGNC:1673 ENSG00000167286 CD3 delta subunit of T-cell receptor complex CD3D """CD3d molecule"", ""CD3d molecule, delta (CD3-TCR complex)"", ""T-cell surface glycoprotein CD3 delta chain""" CD3-DELTA, CD3DELTA, T3D Yes No Comparative Toxicogenomics Database:915, Ensembl:ENSG00000167286, GenAtlas:CD3D, GeneCard:CD3D, HGNC:HGNC:1673, HumanCyc Gene:HS09536, ModBase:P04234, NCBI Gene:915, OMIM:186790, OMIM:600802, OMIM:608971, RefSeq DNA:NG_009891, RefSeq DNA:NT_033899, RefSeq Protein:NP_000723, RefSeq Protein:NP_001035741, RefSeq RNA:NM_000732, RefSeq RNA:NM_001040651, UCSC Genome Browser:NM_000732, UniProtKB:A8MVP6, UniProtKB:B0YIY4, UniProtKB:P04234 No chr11 118209789 118213459 118339074 118344233 +PA26216 916 HGNC:1674 ENSG00000198851 CD3 epsilon subunit of T-cell receptor complex CD3E """CD3e molecule"", ""CD3e molecule, epsilon (CD3-TCR complex)"", ""T-cell surface glycoprotein CD3 epsilon chain""" CD3-epsilon, CD3epsilon Yes No Comparative Toxicogenomics Database:916, Ensembl:ENSG00000198851, GenAtlas:CD3E, GeneCard:CD3E, HGNC:HGNC:1674, ModBase:P07766, NCBI Gene:916, OMIM:186830, OMIM:608971, RefSeq DNA:NG_007383, RefSeq DNA:NT_033899, RefSeq Protein:NP_000724, RefSeq RNA:NM_000733, UCSC Genome Browser:NM_000733, UniProtKB:P07766 No chr11 118175295 118186890 118304580 118316175 +PA26217 917 HGNC:1675 ENSG00000160654 CD3 gamma subunit of T-cell receptor complex CD3G """CD3g molecule"", ""CD3g molecule, gamma (CD3-TCR complex)"", ""T-cell surface glycoprotein CD3 gamma chain""" CD3-GAMMA, CD3GAMMA Yes No Comparative Toxicogenomics Database:917, Ensembl:ENSG00000160654, GenAtlas:CD3G, GeneCard:CD3G, HGNC:HGNC:1675, HumanCyc Gene:HS08514, ModBase:P09693, NCBI Gene:917, OMIM:186740, RefSeq DNA:NG_007566, RefSeq DNA:NT_033899, RefSeq Protein:NP_000064, RefSeq RNA:NM_000073, UCSC Genome Browser:NM_000073, UniProtKB:B0YIY5, UniProtKB:P09693 No chr11 118215032 118224497 118344307 118353782 +PA26220 920 HGNC:1678 ENSG00000010610 CD4 molecule CD4 Leu-3, T4 Yes No Comparative Toxicogenomics Database:920, Ensembl:ENSG00000010610, GenAtlas:CD4, GeneCard:CD4, HGNC:HGNC:1678, HumanCyc Gene:HS00289, ModBase:P01730, NCBI Gene:920, OMIM:186940, RefSeq DNA:NT_009759, RefSeq Protein:NP_000607, RefSeq Protein:NP_001181943, RefSeq Protein:NP_001181944, RefSeq Protein:NP_001181945, RefSeq Protein:NP_001181946, RefSeq RNA:NM_000616, RefSeq RNA:NM_001195014, RefSeq RNA:NM_001195015, RefSeq RNA:NM_001195016, RefSeq RNA:NM_001195017, RefSeq RNA:NR_036545, UCSC Genome Browser:NM_000616, UniProtKB:P01730 No chr12 6898638 6929976 6789472 6820810 +PA36612 958 HGNC:11919 ENSG00000101017 CD40 molecule CD40 CD40 molecule, TNF receptor superfamily member 5 Bp50, TNFRSF5, p50 Yes Yes Comparative Toxicogenomics Database:958, Ensembl:ENSG00000101017, GenAtlas:CD40, GeneCard:CD40, HGNC:HGNC:11919, HumanCyc Gene:HS02183, ModBase:P25942, NCBI Gene:958, OMIM:109535, OMIM:606843, RefSeq DNA:NG_007279, RefSeq DNA:NT_011362, RefSeq Protein:NP_001241, RefSeq Protein:NP_690593, RefSeq RNA:NM_001250, RefSeq RNA:NM_152854, UCSC Genome Browser:NM_001250, UniProtKB:P25942 No chr20 44746899 44758384 46118242 46129745 +PA36626 959 HGNC:11935 ENSG00000102245 CD40 ligand CD40LG CD40 antigen ligand, T-B cell-activating molecule, TNF-related activation protein, hyper-IgM syndrome, tumor necrosis factor (ligand) superfamily member 5 CD154, CD40-L, CD40L, HIGM1, IMD3, T-BAM, TNFSF5, TRAP, gp39, hCD40L Yes Yes Comparative Toxicogenomics Database:959, Ensembl:ENSG00000102245, GenAtlas:CD40LG, GeneCard:CD40LG, HGNC:HGNC:11935, HumanCyc Gene:HS02375, ModBase:P29965, NCBI Gene:959, OMIM:300386, OMIM:308230, RefSeq DNA:NG_007280, RefSeq DNA:NT_011786, RefSeq Protein:NP_000065, RefSeq RNA:NM_000074, UCSC Genome Browser:NM_000074, UniProtKB:P29965 No chrX 135730281 135742549 136648177 136660390 +PA26221 960 HGNC:1681 ENSG00000026508 CD44 molecule (IN blood group) CD44 CD44 molecule (Indian blood group), In(Lu) related-p80, chondroitin sulfate proteoglycan 8, extracellular matrix receptor-III, hematopoietic cell E- and L-selectin ligand, homing cell adhesion molecule, phagocyte glycoprotein 1 CD44R, CDw44, CSPG8, ECM-III, H-CAM, HCELL, HUTCH-1, HUTCH-I, Hermes-1, IN, MC56, MDU2, MDU3, MIC4, PGP-1, Pgp1 Yes Yes Comparative Toxicogenomics Database:960, Ensembl:ENSG00000026508, GenAtlas:CD44, GeneCard:CD44, HGNC:HGNC:1681, HumanCyc Gene:HS00450, ModBase:Q9H5A5, NCBI Gene:960, OMIM:107269, RefSeq DNA:NG_008937, RefSeq DNA:NT_009237, RefSeq Protein:NP_000601, RefSeq Protein:NP_001001389, RefSeq Protein:NP_001001390, RefSeq Protein:NP_001001391, RefSeq Protein:NP_001001392, RefSeq Protein:NP_001189484, RefSeq Protein:NP_001189485, RefSeq Protein:NP_001189486, RefSeq RNA:NM_000610, RefSeq RNA:NM_001001389, RefSeq RNA:NM_001001390, RefSeq RNA:NM_001001391, RefSeq RNA:NM_001001392, RefSeq RNA:NM_001202555, RefSeq RNA:NM_001202556, RefSeq RNA:NM_001202557, UCSC Genome Browser:NM_000610, UniProtKB:O95370, UniProtKB:P16070 No chr11 35160417 35253949 35138870 35232402 +PA30700 4179 HGNC:6953 ENSG00000117335 CD46 molecule CD46 """CD46 molecule, complement regulatory protein"", ""trophoblast-lymphocyte cross-reactive antigen""" MCP, MGC26544, MIC10, TLX, TRA2.10 Yes No Comparative Toxicogenomics Database:4179, Ensembl:ENSG00000117335, GenAtlas:CD46, GeneCard:CD46, HGNC:HGNC:6953, HumanCyc Gene:HS04120, ModBase:Q9NNW2, NCBI Gene:4179, OMIM:120920, OMIM:235400, OMIM:612922, RefSeq DNA:NG_009296, RefSeq DNA:NT_167186, RefSeq Protein:NP_002380, RefSeq Protein:NP_722548, RefSeq Protein:NP_758860, RefSeq Protein:NP_758861, RefSeq Protein:NP_758862, RefSeq Protein:NP_758863, RefSeq Protein:NP_758864, RefSeq Protein:NP_758865, RefSeq Protein:NP_758866, RefSeq Protein:NP_758867, RefSeq Protein:NP_758868, RefSeq Protein:NP_758869, RefSeq Protein:NP_758870, RefSeq Protein:NP_758871, RefSeq RNA:NM_002389, RefSeq RNA:NM_153826, RefSeq RNA:NM_172350, RefSeq RNA:NM_172351, RefSeq RNA:NM_172352, RefSeq RNA:NM_172353, RefSeq RNA:NM_172354, RefSeq RNA:NM_172355, RefSeq RNA:NM_172356, RefSeq RNA:NM_172357, RefSeq RNA:NM_172358, RefSeq RNA:NM_172359, RefSeq RNA:NM_172360, RefSeq RNA:NM_172361, UCSC Genome Browser:NM_002389, UniProtKB:P15529 No chr1 207925383 207968861 207752038 207795516 +PA30707 4182 HGNC:6959 ENSG00000244703 CD46 molecule, complement regulatory protein pseudogene 1 CD46P1 Yes No Ensembl:ENSG00000244703, GenAtlas:MCPL, GeneCard:CD46P1, HGNC:HGNC:6959, NCBI Gene:4182, RefSeq DNA:NT_167186 No chr1 207818429 207830664 207645079 207657411 +PA26222 961 HGNC:1682 ENSG00000196776 CD47 molecule CD47 CD47 glycoprotein, Rh-related antigen, antigen identified by monoclonal antibody 1D8, antigenic surface determinant protein OA3, integrin associated protein, leukocyte surface antigen CD47 IAP, MER6, OA3 Yes No Comparative Toxicogenomics Database:961, Ensembl:ENSG00000196776, GenAtlas:CD47, GeneCard:CD47, HGNC:HGNC:1682, ModBase:Q08722, NCBI Gene:961, OMIM:601028, RefSeq DNA:NT_005612, RefSeq Protein:NP_001020250, RefSeq Protein:NP_001768, RefSeq Protein:NP_942088, RefSeq RNA:NM_001025079, RefSeq RNA:NM_001777, RefSeq RNA:NM_198793, UCSC Genome Browser:NM_001777, UniProtKB:Q08722 No chr3 107761941 107809935 108043094 108094200 +PA26223 962 HGNC:1683 ENSG00000117091 CD48 molecule CD48 BCM1, BLAST, SLAMF2, hCD48, mCD48 Yes No Comparative Toxicogenomics Database:962, Ensembl:ENSG00000117091, GenAtlas:CD48, GeneCard:CD48, HGNC:HGNC:1683, HumanCyc Gene:HS04092, ModBase:P09326, NCBI Gene:962, OMIM:109530, RefSeq DNA:NT_004487, RefSeq Protein:NP_001769, RefSeq RNA:NM_001778, UCSC Genome Browser:NM_001778, UniProtKB:P09326 No chr1 160648536 160681641 160678746 160711851 +PA26224 921 HGNC:1685 ENSG00000110448 CD5 molecule CD5 LEU1, T1 Yes No Comparative Toxicogenomics Database:921, Ensembl:ENSG00000110448, GenAtlas:CD5, GeneCard:CD5, HGNC:HGNC:1685, HumanCyc Gene:HS03313, ModBase:P06127, NCBI Gene:921, OMIM:153340, RefSeq DNA:NT_167190, RefSeq Protein:NP_055022, RefSeq RNA:NM_014207, UCSC Genome Browser:NM_014207, UniProtKB:P06127 No chr11 60869930 60895324 61102458 61127852 +PA26350 1043 HGNC:1804 ENSG00000169442 CD52 molecule CD52 CDW52, EDDM5, HE5 Yes No Comparative Toxicogenomics Database:1043, Ensembl:ENSG00000169442, GenAtlas:CD52, GeneCard:CD52, HGNC:HGNC:1804, HumanCyc Gene:HS09951, NCBI Gene:1043, OMIM:114280, RefSeq DNA:NT_004610, RefSeq Protein:NP_001794, RefSeq RNA:NM_001803, UCSC Genome Browser:NM_001803, UniProtKB:P31358 No chr1 26644411 26647014 26317920 26320523 +PA26225 963 HGNC:1686 ENSG00000143119 CD53 molecule CD53 MOX44, TSPAN25 Yes No Comparative Toxicogenomics Database:963, Ensembl:ENSG00000143119, GenAtlas:CD53, GeneCard:CD53, HGNC:HGNC:1686, HumanCyc Gene:HS06985, ModBase:P19397, NCBI Gene:963, OMIM:151525, RefSeq DNA:NT_032977, RefSeq Protein:NP_000551, RefSeq Protein:NP_001035122, RefSeq RNA:NM_000560, RefSeq RNA:NM_001040033, UCSC Genome Browser:NM_000560, UniProtKB:P19397 No chr1 111413821 111442558 110871199 110899936 +PA27137 1604 HGNC:2665 ENSG00000196352 CD55 molecule (Cromer blood group) CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) CR, CROM, DAF, TC Yes No Comparative Toxicogenomics Database:1604, Ensembl:ENSG00000196352, GenAtlas:CD55, GeneCard:CD55, HGNC:HGNC:2665, HumanCyc Gene:HS07059, ModBase:P08174, NCBI Gene:1604, OMIM:125240, RefSeq DNA:NG_007465, RefSeq DNA:NT_167186, RefSeq Protein:NP_000565, RefSeq Protein:NP_001108224, RefSeq RNA:NM_000574, RefSeq RNA:NM_001114752, UCSC Genome Browser:NM_000574, UniProtKB:P08174 No chr1 207494817 207534311 207321472 207360966 +PA26227 965 HGNC:1688 ENSG00000116815 CD58 molecule CD58 LFA3 Yes Yes Comparative Toxicogenomics Database:965, Ensembl:ENSG00000116815, GenAtlas:CD58, GeneCard:CD58, HGNC:HGNC:1688, HumanCyc Gene:HS04058, ModBase:P19256, NCBI Gene:965, OMIM:153420, RefSeq DNA:NT_032977, RefSeq Protein:NP_001138294, RefSeq Protein:NP_001770, RefSeq RNA:NM_001144822, RefSeq RNA:NM_001779, RefSeq RNA:NR_026665, UCSC Genome Browser:NM_001779, UniProtKB:P19256 No chr1 117057156 117113715 116487140 116571093 +PA26228 966 HGNC:1689 ENSG00000085063 CD59 molecule (CD59 blood group) CD59 """CD59 glycoprotein"", ""CD59 molecule, complement regulatory protein"", ""membrane attack complex inhibition factor"", ""membrane inhibitor of reactive lysis""" 16.3A5, EJ16, EJ30, EL32, G344, HRF20, MACIF, MIC11, MIN1, MIN2, MIN3, MIRL, MSK21, p18-20 Yes No Comparative Toxicogenomics Database:966, Ensembl:ENSG00000085063, GenAtlas:CD59, GeneCard:CD59, HGNC:HGNC:1689, HumanCyc Gene:HS01484, NCBI Gene:966, OMIM:107271, OMIM:612300, RefSeq DNA:NG_008057, RefSeq DNA:NT_009237, RefSeq Protein:NP_000602, RefSeq Protein:NP_001120695, RefSeq Protein:NP_001120697, RefSeq Protein:NP_001120698, RefSeq Protein:NP_001120699, RefSeq Protein:NP_976074, RefSeq Protein:NP_976075, RefSeq Protein:NP_976076, RefSeq RNA:NM_000611, RefSeq RNA:NM_001127223, RefSeq RNA:NM_001127225, RefSeq RNA:NM_001127226, RefSeq RNA:NM_001127227, RefSeq RNA:NM_203329, RefSeq RNA:NM_203330, RefSeq RNA:NM_203331, UCSC Genome Browser:NM_000611, UniProtKB:P13987, UniProtKB:Q6FHM9 No chr11 33724556 33758025 33703010 33736479 +PA26229 922 HGNC:1690 ENSG00000073754 CD5 molecule like CD5L CD5 molecule-like API6, Spalpha Yes No Comparative Toxicogenomics Database:922, Ensembl:ENSG00000073754, GenAtlas:CD5L, GeneCard:CD5L, HGNC:HGNC:1690, HumanCyc Gene:HS01114, ModBase:O43866, NCBI Gene:922, OMIM:602592, RefSeq DNA:NT_004487, RefSeq Protein:NP_005885, RefSeq RNA:NM_005894, UCSC Genome Browser:NM_005894, UniProtKB:O43866 No chr1 157796861 157811634 157827071 157841844 +PA26230 923 HGNC:1691 ENSG00000013725 CD6 molecule CD6 Tp120 Yes No Comparative Toxicogenomics Database:923, Ensembl:ENSG00000013725, GenAtlas:CD6, GeneCard:CD6, HGNC:HGNC:1691, HumanCyc Gene:HS00355, ModBase:P30203, NCBI Gene:923, OMIM:186720, RefSeq DNA:NT_167190, RefSeq Protein:NP_006716, RefSeq RNA:NM_006725, UCSC Genome Browser:NM_006725, UniProtKB:P30203, UniProtKB:Q6AZ88, UniProtKB:Q8N4Q7 No chr11 60739113 60787849 60971641 61020377 +PA26231 967 HGNC:1692 ENSG00000135404 CD63 molecule CD63 AD1 antigen AD1, HOP-26, ME491, MLA1, Pltgp40, TSPAN30 Yes No Comparative Toxicogenomics Database:967, Ensembl:ENSG00000135404, GenAtlas:CD63, GeneCard:CD63, HGNC:HGNC:1692, HumanCyc Gene:HS05996, NCBI Gene:967, OMIM:155740, RefSeq DNA:NG_008347, RefSeq DNA:NT_029419, RefSeq Protein:NP_001035123, RefSeq Protein:NP_001771, RefSeq RNA:NM_001040034, RefSeq RNA:NM_001780, UCSC Genome Browser:NM_001780, UniProtKB:C9JV86, UniProtKB:P08962 No chr12 56119227 56123457 55725443 55729673 +PA26232 968 HGNC:1693 ENSG00000129226 CD68 molecule CD68 """CD68 antigen"", ""macrophage antigen CD68"", ""scavenger receptor class D, member 1""" DKFZp686M18236, GP110, LAMP4, SCARD1, macrosialin Yes No Comparative Toxicogenomics Database:968, Ensembl:ENSG00000129226, GenAtlas:CD68, GeneCard:CD68, HGNC:HGNC:1693, HumanCyc Gene:HS05258, ModBase:P34810, NCBI Gene:968, OMIM:153634, RefSeq DNA:NT_010718, RefSeq Protein:NP_001035148, RefSeq Protein:NP_001242, RefSeq RNA:NM_001040059, RefSeq RNA:NM_001251, UCSC Genome Browser:NM_001251, UniProtKB:B4DVT4, UniProtKB:P34810 No chr17 7482805 7485429 7579487 7582111 +PA26233 969 HGNC:1694 ENSG00000110848 CD69 molecule CD69 CLEC2C Yes Yes Comparative Toxicogenomics Database:969, Ensembl:ENSG00000110848, GenAtlas:CD69, GeneCard:CD69, HGNC:HGNC:1694, HumanCyc Gene:HS03344, ModBase:Q07108, NCBI Gene:969, OMIM:107273, RefSeq DNA:NT_009714, RefSeq Protein:NP_001772, RefSeq RNA:NM_001781, RefSeq RNA:NR_026671, RefSeq RNA:NR_026672, UCSC Genome Browser:NM_001781, UniProtKB:Q07108, UniProtKB:Q53ZX0 No chr12 9905082 9913497 9752486 9760901 +PA26234 924 HGNC:1695 ENSG00000173762 CD7 molecule CD7 T-cell antigen CD7, T-cell leukemia antigen, p41 protein GP40, LEU-9, TP41, Tp40 Yes No Comparative Toxicogenomics Database:924, Ensembl:ENSG00000173762, GenAtlas:CD7, GeneCard:CD7, HGNC:HGNC:1695, HumanCyc Gene:HS10725, ModBase:P09564, NCBI Gene:924, OMIM:186820, RefSeq DNA:NT_010663, RefSeq Protein:NP_006128, RefSeq RNA:NM_006137, UCSC Genome Browser:NM_006137, UniProtKB:P09564, UniProtKB:Q29VG3 No chr17 80272746 80275480 82314865 82320829 +PA36627 970 HGNC:11937 ENSG00000125726 CD70 molecule CD70 CD27 ligand, CD70 antigen CD27-L, CD27L, CD27LG, TNFSF7 Yes No Comparative Toxicogenomics Database:970, Ensembl:ENSG00000125726, GenAtlas:TNFSF7, GeneCard:CD70, GeneCard:TNFSF7, HGNC:HGNC:11937, HumanCyc Gene:HS04917, NCBI Gene:970, OMIM:602840, RefSeq DNA:NT_011255, RefSeq Protein:NP_001243, RefSeq RNA:NM_001252, UCSC Genome Browser:NM_001252, UniProtKB:P32970, UniProtKB:Q53XX4 No chr19 6582969 6591163 6581646 6591152 +PA26235 971 HGNC:1696 ENSG00000137101 CD72 molecule CD72 CD72b, LYB2 Yes No Ensembl:ENSG00000137101, GenAtlas:CD72, GeneCard:CD72, HGNC:HGNC:1696, HumanCyc Gene:HS06273, ModBase:P21854, NCBI Gene:971, OMIM:107272, RefSeq DNA:NT_008413, RefSeq Protein:NP_001773, RefSeq RNA:NM_001782, UCSC Genome Browser:NM_001782, UniProtKB:P21854, UniProtKB:Q5TLG3 No chr9 35609976 35618862 35609977 35646857 +PA26236 972 HGNC:1697 ENSG00000019582 CD74 molecule CD74 """CD74 molecule, major histocompatibility complex, class II invariant chain"", ""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""MHC HLA-DR gamma chain"", ""class II MHC-associated invariant chain peptide"", ""gamma chain of class II antigens""" CLIP, DHLAG Yes Yes Comparative Toxicogenomics Database:972, Ensembl:ENSG00000019582, GenAtlas:CD74, GeneCard:CD74, HGNC:HGNC:1697, HumanCyc Gene:HS00398, ModBase:P04233, NCBI Gene:972, OMIM:142790, RefSeq DNA:NT_029289, RefSeq Protein:NP_001020329, RefSeq Protein:NP_001020330, RefSeq Protein:NP_004346, RefSeq RNA:NM_001025158, RefSeq RNA:NM_001025159, RefSeq RNA:NM_004355, UCSC Genome Browser:NM_004355, UniProtKB:P04233 No chr5 149781200 149792543 150401637 150412936 +PA26237 973 HGNC:1698 ENSG00000105369 CD79a molecule CD79A """B-cell antigen receptor complex-associated protein alpha chain"", ""CD79a molecule, immunoglobulin-associated alpha""" IGA, IGAlpha, Ig-alpha, MB-1, MB1 Yes No Comparative Toxicogenomics Database:973, Ensembl:ENSG00000105369, GenAtlas:CD79A, GeneCard:CD79A, HGNC:HGNC:1698, HumanCyc Gene:HS02720, ModBase:P11912, NCBI Gene:973, OMIM:112205, RefSeq DNA:NG_009619, RefSeq DNA:NT_011109, RefSeq Protein:NP_001774, RefSeq Protein:NP_067612, RefSeq RNA:NM_001783, RefSeq RNA:NM_021601, UCSC Genome Browser:NM_001783, UniProtKB:A0N775, UniProtKB:P11912 No chr19 42381190 42385439 41877120 41881372 +PA26238 974 HGNC:1699 ENSG00000007312 CD79b molecule CD79B """B-cell antigen receptor complex-associated protein beta chain"", ""CD79b molecule, immunoglobulin-associated beta""" B29, IGB, Ig-beta, Igbeta Yes No Comparative Toxicogenomics Database:974, Ensembl:ENSG00000007312, GenAtlas:CD79B, GeneCard:CD79B, HGNC:HGNC:1699, HumanCyc Gene:HS00211, ModBase:P40259, NCBI Gene:974, OMIM:147245, OMIM:612692, RefSeq DNA:NG_007368, RefSeq DNA:NT_010783, RefSeq Protein:NP_000617, RefSeq Protein:NP_001035022, RefSeq Protein:NP_067613, RefSeq RNA:NM_000626, RefSeq RNA:NM_001039933, RefSeq RNA:NM_021602, UCSC Genome Browser:NM_000626, UniProtKB:P40259 No chr17 62006098 62009710 63928738 63932344 +PA26239 941 HGNC:1700 ENSG00000121594 CD80 molecule CD80 B-lymphocyte activation antigen B7 B7-1, B7.1, CD28LG, CD28LG1 Yes Yes Comparative Toxicogenomics Database:941, Ensembl:ENSG00000121594, GenAtlas:CD80, GeneCard:CD80, HGNC:HGNC:1700, HumanCyc Gene:HS04506, ModBase:P33681, NCBI Gene:941, OMIM:112203, RefSeq DNA:NT_005612, RefSeq Protein:NP_005182, RefSeq RNA:NM_005191, UCSC Genome Browser:NM_005191, UniProtKB:A0N0P2, UniProtKB:P33681 No chr3 119243140 119278481 119523909 119559709 +PA26240 975 HGNC:1701 ENSG00000110651 CD81 molecule CD81 Tetraspanin-28 S5.7, TAPA-1, TAPA1, TSPAN28 Yes No Comparative Toxicogenomics Database:975, Ensembl:ENSG00000110651, GenAtlas:CD81, GeneCard:CD81, HGNC:HGNC:1701, HumanCyc Gene:HS03323, NCBI Gene:975, OMIM:186845, RefSeq DNA:NG_023386, RefSeq DNA:NT_009237, RefSeq Protein:NP_004347, RefSeq RNA:NM_004356, UCSC Genome Browser:NM_004356, UniProtKB:P60033 No chr11 2397391 2418649 2376177 2397419 +PA142672155 3732 HGNC:6210 ENSG00000085117 CD82 molecule CD82 R2 leukocyte antigen, suppression of tumorigenicity 6 IA4, KAI1, R2, ST6, TSPAN27 Yes No Comparative Toxicogenomics Database:3732, Ensembl:ENSG00000085117, GeneCard:CD82, HGNC:HGNC:6210, HumanCyc Gene:HS01485, NCBI Gene:3732, OMIM:176807, OMIM:600623, RefSeq DNA:NG_023234, RefSeq DNA:NT_009237, RefSeq Protein:NP_001020015, RefSeq Protein:NP_002222, RefSeq RNA:NM_001024844, RefSeq RNA:NM_002231, UniProtKB:P27701, UniProtKB:Q7Z5N2 No chr11 44587141 44641339 44565591 44620363 +PA26241 9308 HGNC:1703 ENSG00000112149 CD83 molecule CD83 BL11, HB15 Yes No Comparative Toxicogenomics Database:9308, Ensembl:ENSG00000112149, GenAtlas:CD83, GeneCard:CD83, HGNC:HGNC:1703, HumanCyc Gene:HS03524, ModBase:Q01151, NCBI Gene:9308, OMIM:604534, RefSeq DNA:NT_007592, RefSeq Protein:NP_001035370, RefSeq Protein:NP_004224, RefSeq RNA:NM_001040280, RefSeq RNA:NM_004233, UCSC Genome Browser:NM_004233, UniProtKB:Q01151 No chr6 14117487 14137149 14117256 14136918 +PA26242 8832 HGNC:1704 ENSG00000066294 CD84 molecule CD84 SLAMF5, hCD84, mCD84 Yes Yes Comparative Toxicogenomics Database:8832, Ensembl:ENSG00000066294, GenAtlas:CD84, GeneCard:CD84, HGNC:HGNC:1704, HumanCyc Gene:HS00872, ModBase:Q9UF04, NCBI Gene:8832, OMIM:604513, RefSeq DNA:NT_004487, RefSeq Protein:NP_001171808, RefSeq Protein:NP_001171810, RefSeq Protein:NP_001171811, RefSeq Protein:NP_003865, RefSeq RNA:NM_001184879, RefSeq RNA:NM_001184881, RefSeq RNA:NM_001184882, RefSeq RNA:NM_003874, UCSC Genome Browser:NM_003874, UniProtKB:Q9UIB8 No chr1 160510884 160549306 160541094 160579516 +PA26243 942 HGNC:1705 ENSG00000114013 CD86 molecule CD86 B-lymphocyte antigen B7-2 B7-2, B7.2, CD28LG2 Yes No Comparative Toxicogenomics Database:942, Ensembl:ENSG00000114013, GenAtlas:CD86, GeneCard:CD86, HGNC:HGNC:1705, HumanCyc Gene:HS03732, ModBase:P42081, NCBI Gene:942, OMIM:601020, RefSeq DNA:NT_005612, RefSeq Protein:NP_001193853, RefSeq Protein:NP_001193854, RefSeq Protein:NP_008820, RefSeq Protein:NP_787058, RefSeq Protein:NP_795711, RefSeq RNA:NM_001206924, RefSeq RNA:NM_001206925, RefSeq RNA:NM_006889, RefSeq RNA:NM_175862, RefSeq RNA:NM_176892, UCSC Genome Browser:NM_006889, UniProtKB:P42081 No chr3 121774209 121839990 122055362 122121143 +PA26244 925 HGNC:1706 ENSG00000153563 CD8 subunit alpha CD8A CD8a molecule CD8, CD8alpha, p32 Yes No Comparative Toxicogenomics Database:925, Ensembl:ENSG00000153563, GenAtlas:CD8A, GeneCard:CD8A, HGNC:HGNC:1706, HumanCyc Gene:HS07913, ModBase:P01732, NCBI Gene:925, OMIM:186910, OMIM:608957, RefSeq DNA:NG_011608, RefSeq DNA:NT_022184, RefSeq Protein:NP_001139345, RefSeq Protein:NP_001759, RefSeq Protein:NP_741969, RefSeq RNA:NM_001145873, RefSeq RNA:NM_001768, RefSeq RNA:NM_171827, RefSeq RNA:NR_027353, UCSC Genome Browser:NM_001768, UniProtKB:P01732, UniProtKB:Q4ZG17, UniProtKB:Q6ZVS2, UniProtKB:Q8TAW8 No chr2 87011728 87035519 86784605 86808396 +PA26245 926 HGNC:1707 ENSG00000172116 CD8 subunit beta CD8B CD8b molecule, Ly-3 homolog (mouse), T-cell surface glycoprotein CD8 beta chain CD8B1, CD8beta, LYT3, Ly-3, P37 Yes No Ensembl:ENSG00000172116, GenAtlas:CD8B, GeneCard:CD8B, HGNC:HGNC:1707, HumanCyc Gene:HS09984, HumanCyc Gene:HS10451, ModBase:P10966, NCBI Gene:926, OMIM:186730, RefSeq DNA:NT_022184, RefSeq Protein:NP_001171571, RefSeq Protein:NP_004922, RefSeq Protein:NP_742097, RefSeq Protein:NP_742099, RefSeq Protein:NP_742100, RefSeq Protein:NP_757362, RefSeq RNA:NM_001178100, RefSeq RNA:NM_004931, RefSeq RNA:NM_172099, RefSeq RNA:NM_172101, RefSeq RNA:NM_172102, RefSeq RNA:NM_172213, UCSC Genome Browser:NM_004931, UniProtKB:P10966, UniProtKB:Q496E2 No chr2 87042460 87089047 86815337 86861924 +PA26246 927 HGNC:1708 ENSG00000254126 CD8B family member 2 CD8B2 CD8b molecule pseudogene, CD8b2 molecule CD8BP Yes No Ensembl:ENSG00000254126, GenAtlas:CD8BP, GeneCard:CD8BP, HGNC:HGNC:1708, NCBI Gene:927, RefSeq DNA:NG_002423, RefSeq DNA:NT_022171 No chr2 107103824 107124137 106487368 106507681 +PA26247 928 HGNC:1709 ENSG00000010278 CD9 molecule CD9 Tetraspanin-29, motility related protein-1 BA2, MIC3, MRP-1, P24, TSPAN29 Yes No Comparative Toxicogenomics Database:928, Ensembl:ENSG00000010278, GenAtlas:CD9, GeneCard:CD9, HGNC:HGNC:1709, HumanCyc Gene:HS00279, ModBase:P21926, NCBI Gene:928, OMIM:143030, RefSeq DNA:NT_009759, RefSeq Protein:NP_001760, RefSeq RNA:NM_001769, UCSC Genome Browser:NM_001769, UniProtKB:P21926 No chr12 6309482 6347437 6199844 6238271 +PA25627 22918 HGNC:15855 ENSG00000125810 CD93 molecule CD93 C1QR1, C1qR(P), C1qRP, CDw93, ECSM3, MXRA4, dJ737E23.1 Yes No Comparative Toxicogenomics Database:22918, Ensembl:ENSG00000125810, GenAtlas:CD93, GeneCard:CD93, HGNC:HGNC:15855, HumanCyc Gene:HS04935, ModBase:Q9NPY3, NCBI Gene:22918, OMIM:120577, RefSeq DNA:NT_011387, RefSeq Protein:NP_036204, RefSeq RNA:NM_012072, UCSC Genome Browser:NM_012072, UniProtKB:Q9NPY3 No chr20 23059993 23066977 23076554 23086340 +PA437 10225 HGNC:16892 ENSG00000153283 CD96 molecule CD96 """T cell activation, increased late expression"", ""T-cell surface protein tactile""" TACTILE Yes Yes Comparative Toxicogenomics Database:10225, Ensembl:ENSG00000153283, GenAtlas:CD96, GeneCard:CD96, HGNC:HGNC:16892, HumanCyc Gene:HS07899, ModBase:P40200, NCBI Gene:10225, OMIM:211750, OMIM:605039, OMIM:606037, RefSeq DNA:NG_012156, RefSeq DNA:NT_005612, RefSeq Protein:NP_005807, RefSeq Protein:NP_937839, RefSeq RNA:NM_005816, RefSeq RNA:NM_198196, UniProtKB:P40200 No chr3 111260926 111384843 111542079 111665996 +PA30804 4267 HGNC:7082 ENSG00000002586 CD99 molecule (Xg blood group) CD99 CD99 molecule MIC2, MIC2X, MIC2Y Yes No Comparative Toxicogenomics Database:4267, Ensembl:ENSG00000002586, GeneCard:CD99, HGNC:HGNC:7082, HumanCyc Gene:HS00081, ModBase:P14209, NCBI Gene:4267, OMIM:313470, OMIM:450000, RefSeq DNA:NG_009174, RefSeq DNA:NT_167197, RefSeq DNA:NT_167205, RefSeq Protein:NP_001116370, RefSeq Protein:NP_002405, RefSeq RNA:NM_001122898, RefSeq RNA:NM_002414, UCSC Genome Browser:NM_002414, UniProtKB:A6NIW1, UniProtKB:P14209 No chrX 2609228 2659350 2691133 2741309 +PA30805 83692 HGNC:18237 ENSG00000102181 CD99 molecule like 2 CD99L2 CD99 molecule-like 2 CD99B, MIC2L1 Yes No Comparative Toxicogenomics Database:83692, Ensembl:ENSG00000102181, GeneCard:CD99L2, HGNC:HGNC:18237, HumanCyc Gene:HS12476, ModBase:Q8TCZ2, NCBI Gene:83692, RefSeq DNA:NG_021320, RefSeq DNA:NT_167198, RefSeq Protein:NP_001171737, RefSeq Protein:NP_001229543, RefSeq Protein:NP_113650, RefSeq Protein:NP_604394, RefSeq Protein:NP_604395, RefSeq RNA:NM_001184808, RefSeq RNA:NM_001242614, RefSeq RNA:NM_031462, RefSeq RNA:NM_134445, RefSeq RNA:NM_134446, UCSC Genome Browser:NM_031462, UniProtKB:Q8TCZ2 No chrX 149934809 150067289 150766336 150898816 +PA30806 401577 HGNC:7083 ENSG00000223773 CD99 molecule pseudogene 1 CD99P1 Yes No Ensembl:ENSG00000223773, GeneCard:CD99L1, HGNC:HGNC:7083, NCBI Gene:401577 No chrX 2527306 2575270 2609265 2657229 +PA98 978 HGNC:1712 ENSG00000158825 cytidine deaminase CDA CDD Yes Yes Comparative Toxicogenomics Database:978, Ensembl:ENSG00000158825, GenAtlas:CDA, GeneCard:CDA, HGNC:HGNC:1712, HumanCyc Gene:HS08334, ModBase:P32320, NCBI Gene:978, OMIM:123920, RefSeq DNA:NT_004610, RefSeq Protein:NP_001776, RefSeq RNA:NM_001785, UCSC Genome Browser:NM_001785, UniProtKB:P32320 No chr1 20915444 20945401 20588951 20618908 +PA134884656 81602 HGNC:20299 ENSG00000102543 cytidine and dCMP deaminase domain containing 1 CDADC1 NYD-SP15 Yes No Comparative Toxicogenomics Database:81602, Ensembl:ENSG00000102543, GeneCard:CDADC1, HGNC:HGNC:20299, HumanCyc Gene:HS02395, ModBase:Q9BWV3, NCBI Gene:81602, RefSeq DNA:NT_024524, RefSeq Protein:NP_001180407, RefSeq Protein:NP_112173, RefSeq RNA:NM_001193478, RefSeq RNA:NM_030911, RefSeq RNA:NR_036439, UniProtKB:Q9BWV3 No chr13 49822047 49867622 49247875 49293486 +PA26249 146059 HGNC:1713 ENSG00000140326 codanin 1 CDAN1 CDA-I, CDAI Yes No Comparative Toxicogenomics Database:146059, Ensembl:ENSG00000140326, GenAtlas:CDAN1, GeneCard:CDAN1, HGNC:HGNC:1713, HumanCyc Gene:HS13826, ModBase:Q8IWY9, NCBI Gene:146059, OMIM:224120, OMIM:607465, RefSeq DNA:NG_012491, RefSeq DNA:NT_010194, RefSeq Protein:NP_612486, RefSeq RNA:NM_138477, UCSC Genome Browser:NM_138477, UniProtKB:Q8IWY9 No chr15 43015760 43029417 42723557 42737219 +PA162382148 8872 HGNC:16827 ENSG00000151465 cell division cycle 123 CDC123 C10orf7, D123 Yes No Ensembl:ENSG00000151465, GeneCard:CDC123, HGNC:HGNC:16827, HumanCyc Gene:HS07737, NCBI Gene:8872, RefSeq DNA:NT_008705, RefSeq Protein:NP_006014, RefSeq RNA:NM_006023, UniProtKB:O75794 No chr10 12237961 12292589 12195962 12250590 +PA26254 8556 HGNC:1718 ENSG00000079335 cell division cycle 14A CDC14A Cdc14A1, Cdc14A2, DFNB105, DFNB32, cdc14 Yes No Comparative Toxicogenomics Database:8556, Ensembl:ENSG00000079335, GenAtlas:CDC14A, GeneCard:CDC14A, HGNC:HGNC:1718, HumanCyc Gene:HS01322, HumanCyc Gene:HS11655, ModBase:Q9UNH5, NCBI Gene:8556, OMIM:603504, RefSeq DNA:NT_032977, RefSeq Protein:NP_003663, RefSeq Protein:NP_201569, RefSeq Protein:NP_201570, RefSeq RNA:NM_003672, RefSeq RNA:NM_033312, RefSeq RNA:NM_033313, UCSC Genome Browser:NM_003672, UniProtKB:Q52LH9, UniProtKB:Q59EF4, UniProtKB:Q9UNH5 No chr1 100810598 100985833 100345015 100520281 +PA26255 8555 HGNC:1719 ENSG00000081377 cell division cycle 14B CDC14B CDC14B3, Cdc14B1, Cdc14B2, hCDC14B Yes No Comparative Toxicogenomics Database:8555, Ensembl:ENSG00000081377, GenAtlas:CDC14B, GeneCard:CDC14B, HGNC:HGNC:1719, HumanCyc Gene:HS01395, ModBase:O60729, NCBI Gene:8555, OMIM:603505, RefSeq DNA:NT_008470, RefSeq Protein:NP_001070649, RefSeq Protein:NP_003662, RefSeq Protein:NP_201588, RefSeq RNA:NM_001077181, RefSeq RNA:NM_003671, RefSeq RNA:NM_033331, UCSC Genome Browser:NM_003671, UniProtKB:A8MQ20, UniProtKB:O60729 No chr9 99252807 99382112 96492738 96619830 +PA142672143 168448 HGNC:22427 ENSG00000218305 cell division cycle 14C CDC14C CDC14B2, CDC14Bretro, CDC14CP, MGC26484 Yes No Ensembl:ENSG00000218305, GeneCard:CDC14C, HGNC:HGNC:22427, HumanCyc Gene:HS11321, ModBase:A4D256, NCBI Gene:168448, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NM_152627 No chr7 48964157 48967049 48924561 48927453 +PA26256 8881 HGNC:1720 ENSG00000130177 cell division cycle 16 CDC16 anaphase-promoting complex, subunit 6 ANAPC6, APC6, CUT9 Yes No Comparative Toxicogenomics Database:8881, Ensembl:ENSG00000130177, GenAtlas:CDC16, GeneCard:CDC16, HGNC:HGNC:1720, HumanCyc Gene:HS05348, ModBase:Q13042, NCBI Gene:8881, OMIM:603461, RefSeq DNA:NT_024498, RefSeq Protein:NP_001072113, RefSeq Protein:NP_003894, RefSeq RNA:NM_001078645, RefSeq RNA:NM_003903, UCSC Genome Browser:NM_003903, UniProtKB:Q13042 No chr13 115000320 115038150 114234845 114272675 +PA26257 991 HGNC:1723 ENSG00000117399 cell division cycle 20 CDC20 fizzy homolog (drosophila) CDC20A, p55CDC Yes No Comparative Toxicogenomics Database:991, Ensembl:ENSG00000117399, GenAtlas:CDC20, GeneCard:CDC20, HGNC:HGNC:1723, HumanCyc Gene:HS04125, ModBase:Q12834, NCBI Gene:991, OMIM:603618, RefSeq DNA:NT_032977, RefSeq Protein:NP_001246, RefSeq RNA:NM_001255, UCSC Genome Browser:NM_001255, UniProtKB:Q12834 No chr1 43824626 43828874 43358955 43363203 +PA145149217 166979 HGNC:24222 ENSG00000164287 cell division cycle 20B CDC20B FLJ37927 Yes No Ensembl:ENSG00000164287, GeneCard:CDC20B, HGNC:HGNC:24222, HumanCyc Gene:HS15178, ModBase:Q86Y33, NCBI Gene:166979, RefSeq DNA:NT_006713, RefSeq Protein:NP_001139206, RefSeq Protein:NP_001163873, RefSeq Protein:NP_689836, RefSeq RNA:NM_001145734, RefSeq RNA:NM_001170402, RefSeq RNA:NM_152623, UniProtKB:B7WNV8, UniProtKB:C9J6X8, UniProtKB:Q86Y33 No chr5 54408799 54469005 55112971 55173177 +PA142672144 157956 HGNC:29487 ENSG00000231007 cell division cycle 20 pseudogene 1 CDC20P1 OTTHUMG00000020142 Yes No Ensembl:ENSG00000231007, HGNC:HGNC:29487, NCBI Gene:157956, RefSeq DNA:NG_001560, RefSeq DNA:NT_023935 No chr9 89626489 89628125 87011574 87013210 +PA26258 8697 HGNC:1724 ENSG00000094880 cell division cycle 23 CDC23 anaphase promoting complex subunit 8 ANAPC8, APC8, CUT23 Yes No Comparative Toxicogenomics Database:8697, Ensembl:ENSG00000094880, GenAtlas:CDC23, GeneCard:CDC23, HGNC:HGNC:1724, HumanCyc Gene:HS01804, ModBase:Q9UJX2, NCBI Gene:8697, OMIM:603462, RefSeq DNA:NT_034772, RefSeq Protein:NP_004652, RefSeq RNA:NM_004661, UCSC Genome Browser:NM_004661, UniProtKB:Q9UJX2 No chr5 137523337 137549032 138187648 138213343 +PA26259 993 HGNC:1725 ENSG00000164045 cell division cycle 25A CDC25A CDC25 homolog A (S. pombe), M-phase inducer phosphatase 1 Yes No Comparative Toxicogenomics Database:993, Ensembl:ENSG00000164045, GenAtlas:CDC25A, GeneCard:CDC25A, HGNC:HGNC:1725, HumanCyc Gene:HS08989, ModBase:P30304, NCBI Gene:993, OMIM:116947, RefSeq DNA:NT_022517, RefSeq Protein:NP_001780, RefSeq Protein:NP_963861, RefSeq RNA:NM_001789, RefSeq RNA:NM_201567, UCSC Genome Browser:NM_001789, UniProtKB:P30304 No chr3 48198668 48230153 48157178 48188658 +PA26260 994 HGNC:1726 ENSG00000101224 cell division cycle 25B CDC25B CDC25 homolog B (S. pombe), M-phase inducer phosphatase 2 Yes No Comparative Toxicogenomics Database:994, Ensembl:ENSG00000101224, GenAtlas:CDC25B, GeneCard:CDC25B, HGNC:HGNC:1726, HumanCyc Gene:HS02223, ModBase:P30305, NCBI Gene:994, OMIM:116949, RefSeq DNA:NT_011387, RefSeq Protein:NP_004349, RefSeq Protein:NP_068658, RefSeq Protein:NP_068659, RefSeq RNA:NM_004358, RefSeq RNA:NM_021872, RefSeq RNA:NM_021873, UCSC Genome Browser:NM_004358, UniProtKB:B3KS38, UniProtKB:P30305, UniProtKB:Q6MZW8 No chr20 3767419 3786765 3786772 3806121 +PA100 995 HGNC:1727 ENSG00000158402 cell division cycle 25C CDC25C """CDC25 homolog C (S. pombe)"", ""M-phase inducer phosphatase 3"", ""protein phosphatase 1, regulatory subunit 60""" CDC25, PPP1R60 Yes No Comparative Toxicogenomics Database:995, Ensembl:ENSG00000158402, GenAtlas:CDC25C, GeneCard:CDC25C, HGNC:HGNC:1727, HumanCyc Gene:HS08286, ModBase:P30307, NCBI Gene:995, OMIM:157680, RefSeq DNA:NT_034772, RefSeq Protein:NP_001781, RefSeq Protein:NP_073720, RefSeq RNA:NM_001790, RefSeq RNA:NM_022809, UCSC Genome Browser:NM_001790, UniProtKB:P30307 No chr5 137620959 137674064 138285265 138338355 +PA25974 246184 HGNC:17839 ENSG00000176386 cell division cycle 26 CDC26 CDC26 subunit of anaphase promoting complex, anaphase promoting complex subunit 12 ANAPC12, APC12, C9orf17 Yes No Comparative Toxicogenomics Database:246184, Ensembl:ENSG00000176386, GenAtlas:CDC26, GeneCard:CDC26, HGNC:HGNC:17839, HumanCyc Gene:HS16648, NCBI Gene:246184, RefSeq DNA:NT_008470, RefSeq DNA:NT_079596, RefSeq Protein:NP_644815, RefSeq RNA:NM_139286, UniProtKB:Q8NHZ8 No chr9 116029288 116037869 113267008 113275589 +PA134955342 729948 HGNC:22770 ENSG00000238072 cell division cycle 26 pseudogene 1 CDC26P1 TCAG_1970866 Yes No Ensembl:ENSG00000238072, HGNC:HGNC:22770, NCBI Gene:729948, RefSeq DNA:NG_011774, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:XP_001720696, RefSeq Protein:XP_001722247, RefSeq Protein:XP_001726369, RefSeq Protein:XP_001726563, RefSeq RNA:XM_001720644, RefSeq RNA:XM_001722195, RefSeq RNA:XM_001726317, RefSeq RNA:XM_001726511 No chr7 129049694 129050397 129409853 129410556 +PA26261 996 HGNC:1728 ENSG00000004897 cell division cycle 27 CDC27 anaphase promoting complex subunit 3 ANAPC3, APC3, D0S1430E, D17S978E, NUC2 Yes No Comparative Toxicogenomics Database:996, Ensembl:ENSG00000004897, GenAtlas:CDC27, GeneCard:CDC27, HGNC:HGNC:1728, HumanCyc Gene:HS00117, ModBase:P30260, NCBI Gene:996, OMIM:116946, RefSeq DNA:NT_010783, RefSeq Protein:NP_001107563, RefSeq Protein:NP_001247, RefSeq RNA:NM_001114091, RefSeq RNA:NM_001256, UCSC Genome Browser:NM_001256, UniProtKB:P30260 No chr17 45195310 45266665 47117697 47189332 +PA26265 997 HGNC:1734 ENSG00000099804 cell division cycle 34, ubiqiutin conjugating enzyme CDC34 cell division cycle 34, ubiquitin conjugating enzyme E2 R1 E2-CDC34, UBC3, UBE2R1 Yes No Comparative Toxicogenomics Database:997, Ensembl:ENSG00000099804, GenAtlas:CDC34, GeneCard:CDC34, HGNC:HGNC:1734, HumanCyc Gene:HS01911, ModBase:P49427, NCBI Gene:997, OMIM:116948, RefSeq DNA:NT_011255, RefSeq Protein:NP_004350, RefSeq RNA:NM_004359, UCSC Genome Browser:NM_004359, UniProtKB:P49427 No chr19 531720 542087 531720 542088 +PA402 11140 HGNC:1735 ENSG00000105401 cell division cycle 37, HSP90 cochaperone CDC37 """CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""cell division cycle 37""" P50CDC37 Yes No Comparative Toxicogenomics Database:11140, Ensembl:ENSG00000105401, GenAtlas:CDC37, GeneCard:CDC37, HGNC:HGNC:1735, HumanCyc Gene:HS02733, ModBase:Q16543, NCBI Gene:11140, OMIM:605065, RefSeq DNA:NT_011295, RefSeq Protein:NP_008996, RefSeq RNA:NM_007065, UCSC Genome Browser:NM_007065, UniProtKB:Q16543 No chr19 10501809 10514271 10391128 10403595 +PA134982210 55664 HGNC:17179 ENSG00000106993 cell division cycle 37 like 1, HSP90 cochaperone CDC37L1 cell division cycle 37 like 1, cell division cycle 37-like 1 CDC37B, FLJ20639, HARC Yes No Comparative Toxicogenomics Database:55664, Ensembl:ENSG00000106993, GeneCard:CDC37L1, HGNC:HGNC:17179, HumanCyc Gene:HS02966, ModBase:Q7L3B6, NCBI Gene:55664, OMIM:610346, RefSeq DNA:NT_008413, RefSeq Protein:NP_060383, RefSeq RNA:NM_017913, UniProtKB:Q7L3B6 No chr9 4679566 4706594 4679553 4708399 +PA134891332 51362 HGNC:17350 ENSG00000168438 cell division cycle 40 CDC40 EHB3, FLJ10564, PRP17, PRPF17 Yes No Ensembl:ENSG00000168438, GeneCard:CDC40, HGNC:HGNC:17350, HumanCyc Gene:HS09758, ModBase:O60508, NCBI Gene:51362, OMIM:605585, RefSeq DNA:NT_025741, RefSeq Protein:NP_056975, RefSeq RNA:NM_015891, UniProtKB:O60508 No chr6 110501624 110553423 110180421 110232220 +PA26266 998 HGNC:1736 ENSG00000070831 cell division cycle 42 CDC42 GTP binding protein, 25kDa CDC42Hs, G25K Yes No Comparative Toxicogenomics Database:998, Ensembl:ENSG00000070831, GenAtlas:CDC42, GeneCard:CDC42, HGNC:HGNC:1736, HumanCyc Gene:HS01015, ModBase:P60953, NCBI Gene:998, OMIM:116952, RefSeq DNA:NT_004610, RefSeq Protein:NP_001034891, RefSeq Protein:NP_001782, RefSeq Protein:NP_426359, RefSeq RNA:NM_001039802, RefSeq RNA:NM_001791, RefSeq RNA:NM_044472, UCSC Genome Browser:NM_001791, UniProtKB:P60953 No chr1 22379120 22419439 22052627 22092943 +PA26267 8476 HGNC:1737 ENSG00000143776 CDC42 binding protein kinase alpha CDC42BPA CDC42 binding protein kinase alpha (DMPK-like), myotonic dystrophy kinase-related Cdc42-binding kinase FLJ23347, KIAA0451, MRCK, MRCKA, MRCKalpha, PK428 Yes No Comparative Toxicogenomics Database:8476, Ensembl:ENSG00000143776, GenAtlas:CDC42BPA, GeneCard:CDC42BPA, HGNC:HGNC:1737, HumanCyc Gene:HS08778, ModBase:Q86XX3, NCBI Gene:8476, OMIM:603412, RefSeq DNA:NT_167186, RefSeq Protein:NP_003598, RefSeq Protein:NP_055641, RefSeq RNA:NM_003607, RefSeq RNA:NM_014826, UCSC Genome Browser:NM_003607, UniProtKB:Q5VT25 No chr1 227177566 227506193 226989865 227318492 +PA26268 9578 HGNC:1738 ENSG00000198752 CDC42 binding protein kinase beta CDC42BPB CDC42 binding protein kinase beta (DMPK-like) KIAA1124, MRCKB Yes No Comparative Toxicogenomics Database:9578, Ensembl:ENSG00000198752, GenAtlas:CDC42BPB, GeneCard:CDC42BPB, HGNC:HGNC:1738, HumanCyc Gene:HS02132, ModBase:Q9Y5S2, NCBI Gene:9578, RefSeq DNA:NT_026437, RefSeq Protein:NP_006026, RefSeq RNA:NM_006035, UCSC Genome Browser:NM_006035, UniProtKB:Q9Y5S2 No chr14 103398716 103523742 102932379 103057405 +PA134901493 55561 HGNC:29829 ENSG00000171219 CDC42 binding protein kinase gamma CDC42BPG CDC42 binding protein kinase gamma (DMPK-like) DMPK2, HSMDPKIN, MRCKgamma, kappa-200 Yes No Ensembl:ENSG00000171219, GeneCard:CDC42BPG, HGNC:HGNC:29829, ModBase:Q6DT37, NCBI Gene:55561, RefSeq DNA:NT_167190, RefSeq Protein:NP_059995, RefSeq RNA:NM_017525, UniProtKB:Q6DT37 No chr11 64591661 64612041 64823809 64844685 +PA38430 11135 HGNC:17014 ENSG00000128283 CDC42 effector protein 1 CDC42EP1 55 kDa bone marrow stromal/endothelial cell protein, CDC42 effector protein (Rho GTPase binding) 1, binder of Rho GTPases 5, serum constituent protein Borg5, CEP1, MSE55 Yes No Comparative Toxicogenomics Database:11135, Ensembl:ENSG00000128283, GenAtlas:CDC42EP1, GeneCard:CDC42EP1, HGNC:HGNC:17014, HumanCyc Gene:HS05173, ModBase:Q00587, NCBI Gene:11135, OMIM:606084, RefSeq DNA:NT_011520, RefSeq Protein:NP_689449, RefSeq RNA:NM_152243, UCSC Genome Browser:NM_007061, UniProtKB:Q00587 No chr22 37956471 37965412 37559778 37569405 +PA38396 10435 HGNC:16263 ENSG00000149798 CDC42 effector protein 2 CDC42EP2 CDC42 effector protein (Rho GTPase binding) 2, CRIB-containing BOGR1 protein, binder of Rho GTPases 1 BORG1, CEP2 Yes No Ensembl:ENSG00000149798, GenAtlas:CDC42EP2, GeneCard:CDC42EP2, HGNC:HGNC:16263, HumanCyc Gene:HS14308, NCBI Gene:10435, OMIM:606132, RefSeq DNA:NT_167190, RefSeq Protein:NP_006770, RefSeq RNA:NM_006779, UCSC Genome Browser:NM_006779, UniProtKB:O14613 No chr11 65082289 65089900 65314729 65322429 +PA38429 10602 HGNC:16943 ENSG00000163171 CDC42 effector protein 3 CDC42EP3 CDC42 effector protein (Rho GTPase binding) 3, binder of Rho GTPases 2 BORG2, CEP3, UB1 Yes No Comparative Toxicogenomics Database:10602, Ensembl:ENSG00000163171, GenAtlas:CDC42EP3, GeneCard:CDC42EP3, HGNC:HGNC:16943, HumanCyc Gene:HS08799, ModBase:Q9UKI2, NCBI Gene:10602, OMIM:606133, RefSeq DNA:NT_022184, RefSeq Protein:NP_006440, RefSeq RNA:NM_006449, UCSC Genome Browser:NM_006449, UniProtKB:Q9UKI2 No chr2 37869025 37899678 37641882 37672535 +PA38439 23580 HGNC:17147 ENSG00000179604 CDC42 effector protein 4 CDC42EP4 CDC42 effector protein (Rho GTPase binding) 4, Cdc42 effector protein 4, binder of Rho GTPases 4 BORG4, CEP4, KAIA1777, MGC17125, MGC3740 Yes No Ensembl:ENSG00000179604, GenAtlas:CDC42EP4, GeneCard:CDC42EP4, HGNC:HGNC:17147, HumanCyc Gene:HS11399, ModBase:Q9H3Q1, NCBI Gene:23580, OMIM:605468, RefSeq DNA:NT_010783, RefSeq Protein:NP_036253, RefSeq RNA:NM_012121, UCSC Genome Browser:NM_012121, UniProtKB:B2R6D8, UniProtKB:Q9H3Q1 No chr17 71279763 71308314 73283624 73312004 +PA134989100 148170 HGNC:17408 ENSG00000167617 CDC42 effector protein 5 CDC42EP5 CDC42 effector protein (Rho GTPase binding) 5, binder of Rho GTPases 3 Borg3, CEP5 Yes No Ensembl:ENSG00000167617, GeneCard:CDC42EP5, HGNC:HGNC:17408, HumanCyc Gene:HS15575, ModBase:Q6NZY7, NCBI Gene:148170, OMIM:609171, RefSeq DNA:NT_011109, RefSeq Protein:NP_659494, RefSeq RNA:NM_145057, UniProtKB:Q6NZY7 No chr19 54976210 54984422 54465025 54473290 +PA26269 170503 HGNC:16339 ENSG00000234933 cell division cycle 42 pseudogene 1 CDC42P1 bK3216D2.3 Yes No Ensembl:ENSG00000234933, GenAtlas:CDC42P1, GeneCard:CDC42P1, HGNC:HGNC:16339, NCBI Gene:170503, RefSeq DNA:NG_001032, RefSeq DNA:NT_011362 No chr20 32989122 32990578 34401295 34402772 +PA134875001 56882 HGNC:17719 ENSG00000197622 CDC42 small effector 1 CDC42SE1 SCIP1, SPEC1 Yes No Comparative Toxicogenomics Database:56882, Ensembl:ENSG00000197622, GeneCard:CDC42SE1, HGNC:HGNC:17719, NCBI Gene:56882, RefSeq DNA:NT_004487, RefSeq Protein:NP_001033796, RefSeq Protein:NP_064624, RefSeq RNA:NM_001038707, RefSeq RNA:NM_020239, UniProtKB:Q9NRR8 No chr1 151023447 151032125 151050971 151059649 +PA133787056 56990 HGNC:18547 ENSG00000158985 CDC42 small effector 2 CDC42SE2 FLJ21967, SPEC2 Yes No Comparative Toxicogenomics Database:56990, Ensembl:ENSG00000158985, GeneCard:CDC42SE2, HGNC:HGNC:18547, HumanCyc Gene:HS08348, ModBase:Q9NRR3, NCBI Gene:56990, RefSeq DNA:NT_034772, RefSeq Protein:NP_001033791, RefSeq Protein:NP_064625, RefSeq RNA:NM_001038702, RefSeq RNA:NM_020240, UniProtKB:Q9NRR3 No chr5 130599702 130730383 131264009 131394690 +PA371 8318 HGNC:1739 ENSG00000093009 cell division cycle 45 CDC45 human CDC45 CDC45L, CDC45L2 Yes No Comparative Toxicogenomics Database:8318, Ensembl:ENSG00000093009, GenAtlas:CDC45L, GeneCard:CDC45, GeneCard:CDC45L, HGNC:HGNC:1739, HumanCyc Gene:HS01790, ModBase:O75419, NCBI Gene:8318, OMIM:603465, RefSeq DNA:NT_011519, RefSeq Protein:NP_001171481, RefSeq Protein:NP_001171482, RefSeq Protein:NP_003495, RefSeq RNA:NM_001178010, RefSeq RNA:NM_001178011, RefSeq RNA:NM_003504, UCSC Genome Browser:NM_003504, UniProtKB:B4DDB4, UniProtKB:B4DDU3, UniProtKB:O75419 No chr22 19466984 19508135 19479278 19520612 +PA26270 988 HGNC:1743 ENSG00000096401 cell division cycle 5 like CDC5L cell division cycle 5-like CDC5, CEF1, PCDC5RP, hCDC5 Yes Yes Comparative Toxicogenomics Database:988, Ensembl:ENSG00000096401, GenAtlas:CDC5L, GeneCard:CDC5L, HGNC:HGNC:1743, HumanCyc Gene:HS01861, ModBase:Q99459, NCBI Gene:988, OMIM:602868, RefSeq DNA:NT_007592, RefSeq Protein:NP_001244, RefSeq RNA:NM_001253, UCSC Genome Browser:NM_001253, UniProtKB:Q99459 No chr6 44355251 44418161 44387514 44450424 +PA26271 990 HGNC:1744 ENSG00000094804 cell division cycle 6 CDC6 CDC18L Yes No Comparative Toxicogenomics Database:990, Ensembl:ENSG00000094804, GenAtlas:CDC6, GeneCard:CDC6, HGNC:HGNC:1744, HumanCyc Gene:HS01803, ModBase:Q99741, NCBI Gene:990, OMIM:602627, RefSeq DNA:NT_010783, RefSeq Protein:NP_001245, RefSeq RNA:NM_001254, UCSC Genome Browser:NM_001254, UniProtKB:Q99741 No chr17 38444146 38459413 40287689 40303161 +PA26272 8317 HGNC:1745 ENSG00000097046 cell division cycle 7 CDC7 CDC7L1, HsCdc7, Hsk1, huCdc7 Yes No Ensembl:ENSG00000097046, GeneCard:CDC7, HGNC:HGNC:1745, HumanCyc Gene:HS01876, ModBase:O00311, NCBI Gene:8317, OMIM:603311, RefSeq DNA:NT_032977, RefSeq Protein:NP_001127891, RefSeq Protein:NP_001127892, RefSeq Protein:NP_003494, RefSeq RNA:NM_001134419, RefSeq RNA:NM_001134420, RefSeq RNA:NM_003503, UCSC Genome Browser:NM_003503, UniProtKB:B2R6V2, UniProtKB:O00311 No chr1 91966338 91991321 91500814 91525764 +PA29464 79577 HGNC:16783 ENSG00000134371 cell division cycle 73 CDC73 Paf1/RNA polymerase II complex component C1orf28, FIHP, HRPT1, HRPT2, parafibromin Yes No Comparative Toxicogenomics Database:79577, Ensembl:ENSG00000134371, GenAtlas:CDC73, GeneCard:CDC73, HGNC:HGNC:16783, HumanCyc Gene:HS13527, ModBase:Q6P1J9, NCBI Gene:79577, OMIM:145000, OMIM:145001, OMIM:607393, OMIM:608266, RefSeq DNA:NG_012691, RefSeq DNA:NT_004487, RefSeq Protein:NP_078805, RefSeq RNA:NM_024529, UniProtKB:Q6P1J9 No chr1 193091088 193223945 193121958 193254815 +PA26275 157313 HGNC:14623 ENSG00000184661 cell division cycle associated 2 CDCA2 protein phosphatase 1, regulatory subunit 81 PPP1R81, Repo-Man Yes No Comparative Toxicogenomics Database:157313, Ensembl:ENSG00000184661, GenAtlas:CDCA2, GeneCard:CDCA2, HGNC:HGNC:14623, NCBI Gene:157313, RefSeq DNA:NT_167187, RefSeq Protein:NP_689775, RefSeq RNA:NM_152562, UniProtKB:Q69YH5 No chr8 25316275 25365425 25458569 25511308 +PA26276 83461 HGNC:14624 ENSG00000111665 cell division cycle associated 3 CDCA3 trigger of mitotic entry 1 GRCC8, TOME-1 Yes Yes Comparative Toxicogenomics Database:83461, Ensembl:ENSG00000111665, GenAtlas:CDCA3, GeneCard:CDCA3, HGNC:HGNC:14624, HumanCyc Gene:HS03438, ModBase:Q99618, NCBI Gene:83461, OMIM:607749, RefSeq DNA:NT_009759, RefSeq Protein:NP_112589, RefSeq RNA:NM_031299, UCSC Genome Browser:NM_031299, UniProtKB:B2R749, UniProtKB:Q99618 No chr12 6957972 6961128 6844796 6852066 +PA26277 55038 HGNC:14625 ENSG00000170779 cell division cycle associated 4 CDCA4 hematopoietic progenitor protein FLJ20764, Hepp Yes No Comparative Toxicogenomics Database:55038, Ensembl:ENSG00000170779, GenAtlas:CDCA4, GeneCard:CDCA4, HGNC:HGNC:14625, HumanCyc Gene:HS15913, ModBase:Q9BXL8, NCBI Gene:55038, OMIM:612270, RefSeq DNA:NT_026437, RefSeq Protein:NP_060425, RefSeq Protein:NP_663747, RefSeq RNA:NM_017955, RefSeq RNA:NM_145701, UCSC Genome Browser:NM_017955, UniProtKB:Q9BXL8 No chr14 105475910 105487425 105009573 105021088 +PA26278 113130 HGNC:14626 ENSG00000146670 cell division cycle associated 5 CDCA5 sororin Yes No Comparative Toxicogenomics Database:113130, Ensembl:ENSG00000146670, GenAtlas:CDCA5, GeneCard:CDCA5, HGNC:HGNC:14626, HumanCyc Gene:HS14168, ModBase:Q96FF9, NCBI Gene:113130, OMIM:609374, RefSeq DNA:NT_167190, RefSeq Protein:NP_542399, RefSeq RNA:NM_080668, UCSC Genome Browser:NM_080668, UniProtKB:Q96FF9 No chr11 64833772 64851635 65061009 65084143 +PA26280 83879 HGNC:14628 ENSG00000144354 cell division cycle associated 7 CDCA7 FLJ14736, JPO1 Yes No Comparative Toxicogenomics Database:83879, Ensembl:ENSG00000144354, GenAtlas:CDCA7, GeneCard:CDCA7, HGNC:HGNC:14628, HumanCyc Gene:HS14016, ModBase:Q9BWT1, NCBI Gene:83879, OMIM:609937, RefSeq DNA:NT_005403, RefSeq Protein:NP_114148, RefSeq Protein:NP_665809, RefSeq RNA:NM_031942, RefSeq RNA:NM_145810, UCSC Genome Browser:NM_031942, UniProtKB:Q9BWT1 No chr2 174219561 174233718 173354017 173368992 +PA142672139 55536 HGNC:30777 ENSG00000164649 cell division cycle associated 7 like CDCA7L cell division cycle associated 7-like JPO2, R1, RAM2 Yes No Comparative Toxicogenomics Database:55536, Ensembl:ENSG00000164649, GeneCard:CDCA7L, HGNC:HGNC:30777, HumanCyc Gene:HS15223, ModBase:Q96GN5, NCBI Gene:55536, OMIM:609685, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001120842, RefSeq Protein:NP_001120843, RefSeq Protein:NP_061189, RefSeq RNA:NM_001127370, RefSeq RNA:NM_001127371, RefSeq RNA:NM_018719, UniProtKB:A8K8X5, UniProtKB:B3KTR5, UniProtKB:B4DUT3, UniProtKB:C9K0Y1, UniProtKB:Q96GN5 No chr7 21940517 21985542 21900899 21945924 +PA26281 55143 HGNC:14629 ENSG00000134690 cell division cycle associated 8 CDCA8 borealin BOR, DasraB, FLJ12042, MESRGP Yes No Comparative Toxicogenomics Database:55143, Ensembl:ENSG00000134690, GenAtlas:CDCA8, GeneCard:CDCA8, HGNC:HGNC:14629, HumanCyc Gene:HS13538, NCBI Gene:55143, OMIM:609977, RefSeq DNA:NT_032977, RefSeq Protein:NP_060571, RefSeq RNA:NM_018101, UCSC Genome Browser:NM_018101, UniProtKB:Q53HL2 No chr1 38158073 38175391 37692401 37709719 +PA142672140 64866 HGNC:24357 ENSG00000163814 CUB domain containing protein 1 CDCP1 CD318, SIMA135 Yes No Comparative Toxicogenomics Database:64866, Ensembl:ENSG00000163814, GeneCard:CDCP1, HGNC:HGNC:24357, HumanCyc Gene:HS15111, NCBI Gene:64866, OMIM:611735, RefSeq DNA:NT_022517, RefSeq Protein:NP_073753, RefSeq Protein:NP_835488, RefSeq RNA:NM_022842, RefSeq RNA:NM_178181, UniProtKB:Q9H5V8 No chr3 45123766 45187914 45082274 45146422 +PA143485432 200008 HGNC:27297 ENSG00000157211 CUB domain containing protein 2 CDCP2 Yes No Ensembl:ENSG00000157211, GeneCard:CDCP2, HGNC:HGNC:27297, ModBase:Q5VXM1, NCBI Gene:200008, OMIM:612320, RefSeq DNA:NT_032977, RefSeq Protein:NP_963840, RefSeq RNA:NM_201546, UniProtKB:Q5VXM1 No chr1 54604668 54618679 54138995 54153006 +PA26282 999 HGNC:1748 ENSG00000039068 cadherin 1 CDH1 """E-Cadherin"", ""cadherin 1, type 1, E-cadherin (epithelial)""" CD324, UVO, uvomorulin Yes No Comparative Toxicogenomics Database:999, Ensembl:ENSG00000039068, GenAtlas:CDH1, GeneCard:CDH1, HGNC:HGNC:1748, HumanCyc Gene:HS00538, ModBase:P12830, NCBI Gene:999, OMIM:137215, OMIM:192090, RefSeq DNA:NG_008021, RefSeq DNA:NT_010498, RefSeq Protein:NP_004351, RefSeq RNA:NM_004360, UCSC Genome Browser:NM_004360, UniProtKB:A8K1U7, UniProtKB:P12830 No chr16 68771128 68869445 68737290 68835542 +PA26283 1008 HGNC:1749 ENSG00000040731 cadherin 10 CDH10 cadherin 10, type 2 (T2-cadherin) Yes No Ensembl:ENSG00000040731, GenAtlas:CDH10, GeneCard:CDH10, HGNC:HGNC:1749, ModBase:Q9Y6N8, NCBI Gene:1008, OMIM:604555, RefSeq DNA:NT_006576, RefSeq Protein:NP_001177379, RefSeq Protein:NP_006718, RefSeq RNA:NM_001190450, RefSeq RNA:NM_006727, UCSC Genome Browser:NM_006727, UniProtKB:Q9Y6N8 No chr5 24487209 24645085 24487100 24644978 +PA26284 1009 HGNC:1750 ENSG00000140937 cadherin 11 CDH11 """OB-Cadherin"", ""cadherin 11, type 2, OB-cadherin (osteoblast)""" CAD11, OB Yes No Comparative Toxicogenomics Database:1009, Ensembl:ENSG00000140937, GenAtlas:CDH11, GeneCard:CDH11, HGNC:HGNC:1750, HumanCyc Gene:HS06774, ModBase:P55287, NCBI Gene:1009, OMIM:600023, RefSeq DNA:NT_010498, RefSeq Protein:NP_001788, RefSeq RNA:NM_001797, UCSC Genome Browser:NM_001797, UniProtKB:P55287 No chr16 64916794 65160015 64943753 65126112 +PA26285 1010 HGNC:1751 ENSG00000154162 cadherin 12 CDH12 cadherin 12, type 2 (N-cadherin 2) Br-cadherin, CDHB Yes No Ensembl:ENSG00000154162, GenAtlas:CDH12, GeneCard:CDH12, HGNC:HGNC:1751, HumanCyc Gene:HS07955, ModBase:P55289, NCBI Gene:1010, OMIM:600562, RefSeq DNA:NT_006576, RefSeq Protein:NP_004052, RefSeq RNA:NM_004061, UCSC Genome Browser:NM_004061, UniProtKB:P55289 No chr5 21750870 22853731 21750191 22853622 +PA26286 1011 HGNC:1752 ENSG00000249230 cadherin 12 (N-cadherin 2) pseudogene 2 CDH12P2 C41-CAD Yes No Ensembl:ENSG00000249230, GenAtlas:CDH12P, GeneCard:CDH12P2, HGNC:HGNC:1752, NCBI Gene:1011, RefSeq DNA:NG_007326, RefSeq DNA:NT_006713, RefSeq DNA:NT_113801, RefSeq RNA:NR_002209 No chr5 69280926 69281427 69985199 69985500 +PA26287 1012 HGNC:1753 ENSG00000140945 cadherin 13 CDH13 """H-cadherin (heart)"", ""T-cadherin"", ""cadherin 13, H-cadherin (heart)""" CDHH Yes Yes Comparative Toxicogenomics Database:1012, Ensembl:ENSG00000140945, GenAtlas:CDH13, GeneCard:CDH13, HGNC:HGNC:1753, HumanCyc Gene:HS06778, ModBase:P55290, NCBI Gene:1012, OMIM:601364, RefSeq DNA:NT_010498, RefSeq Protein:NP_001207417, RefSeq Protein:NP_001207418, RefSeq Protein:NP_001207419, RefSeq Protein:NP_001207420, RefSeq Protein:NP_001207421, RefSeq Protein:NP_001248, RefSeq RNA:NM_001220488, RefSeq RNA:NM_001220489, RefSeq RNA:NM_001220490, RefSeq RNA:NM_001220491, RefSeq RNA:NM_001220492, RefSeq RNA:NM_001257, UCSC Genome Browser:NM_001257, UniProtKB:P55290 No chr16 82660399 83830215 82626794 83796610 +PA26288 1013 HGNC:1754 ENSG00000129910 cadherin 15 CDH15 cadherin 15, type 1, M-cadherin (myotubule) CDH14, CDH3 Yes Yes Ensembl:ENSG00000129910, GenAtlas:CDH15, GeneCard:CDH15, HGNC:HGNC:1754, HumanCyc Gene:HS05315, ModBase:P55291, NCBI Gene:1013, OMIM:114019, OMIM:612580, RefSeq DNA:NG_012055, RefSeq DNA:NT_010542, RefSeq Protein:NP_004924, RefSeq RNA:NM_004933, UCSC Genome Browser:NM_004933, UniProtKB:P55291 No chr16 89238163 89261900 89171755 89195492 +PA26289 1014 HGNC:1755 ENSG00000166589 cadherin 16 CDH16 cadherin 16, KSP-cadherin Yes No Comparative Toxicogenomics Database:1014, Ensembl:ENSG00000166589, GenAtlas:CDH16, GeneCard:CDH16, HGNC:HGNC:1755, HumanCyc Gene:HS09424, ModBase:O75309, NCBI Gene:1014, OMIM:603118, RefSeq DNA:NT_010498, RefSeq Protein:NP_001191673, RefSeq Protein:NP_001191674, RefSeq Protein:NP_001191675, RefSeq Protein:NP_004053, RefSeq RNA:NM_001204744, RefSeq RNA:NM_001204745, RefSeq RNA:NM_001204746, RefSeq RNA:NM_004062, UCSC Genome Browser:NM_004062, UniProtKB:O75309 No chr16 66942025 66952887 66908122 66918984 +PA26290 1015 HGNC:1756 ENSG00000079112 cadherin 17 CDH17 cadherin 17, LI cadherin (liver-intestine) HPT-1, cadherin Yes No Comparative Toxicogenomics Database:1015, Ensembl:ENSG00000079112, GenAtlas:CDH17, GeneCard:CDH17, HGNC:HGNC:1756, HumanCyc Gene:HS01311, NCBI Gene:1015, OMIM:603017, RefSeq DNA:NT_008046, RefSeq Protein:NP_001138135, RefSeq Protein:NP_004054, RefSeq RNA:NM_001144663, RefSeq RNA:NM_004063, UCSC Genome Browser:NM_004063, UniProtKB:B2R778, UniProtKB:Q12864 No chr8 95139394 95229531 94127162 94217303 +PA26291 1016 HGNC:1757 ENSG00000145526 cadherin 18 CDH18 cadherin 18, type 2 CDH14, EY-CADHERIN Yes No Ensembl:ENSG00000145526, GenAtlas:CDH18, GeneCard:CDH18, HGNC:HGNC:1757, HumanCyc Gene:HS07259, ModBase:Q13634, NCBI Gene:1016, OMIM:603019, RefSeq DNA:NT_006576, RefSeq Protein:NP_001161139, RefSeq Protein:NP_004925, RefSeq RNA:NM_001167667, RefSeq RNA:NM_004934, UCSC Genome Browser:NM_004934, UniProtKB:B4DHG6, UniProtKB:Q13634 No chr5 19473140 20575972 19472930 20575902 +PA26292 28513 HGNC:1758 ENSG00000071991 cadherin 19 CDH19 cadherin 19, type 2 CDH7 Yes No Ensembl:ENSG00000071991, GenAtlas:CDH19, GeneCard:CDH19, HGNC:HGNC:1758, HumanCyc Gene:HS01047, ModBase:Q9H159, NCBI Gene:28513, OMIM:603016, RefSeq DNA:NT_025028, RefSeq Protein:NP_066976, RefSeq RNA:NM_021153, UCSC Genome Browser:NM_021153, UniProtKB:Q9H159 No chr18 64168320 64271375 66501187 66604241 +PA26293 1000 HGNC:1759 ENSG00000170558 cadherin 2 CDH2 """N-cadherin"", ""cadherin 2, type 1, N-cadherin (neuronal)""" CD325, CDHN, NCAD Yes Yes Comparative Toxicogenomics Database:1000, Ensembl:ENSG00000170558, GenAtlas:CDH2, GeneCard:CDH2, HGNC:HGNC:1759, HumanCyc Gene:HS10148, ModBase:P19022, NCBI Gene:1000, OMIM:114020, RefSeq DNA:NG_011959, RefSeq DNA:NT_010966, RefSeq Protein:NP_001783, RefSeq RNA:NM_001792, UCSC Genome Browser:NM_001792, UniProtKB:P19022 No chr18 25530930 25757445 27932878 28177446 +PA26294 28316 HGNC:1760 ENSG00000101542 cadherin 20 CDH20 cadherin 20, type 2 CDH7L3, Cdh7 Yes No Ensembl:ENSG00000101542, GenAtlas:CDH20, GeneCard:CDH20, HGNC:HGNC:1760, HumanCyc Gene:HS02286, ModBase:Q9HBT6, NCBI Gene:28316, OMIM:605807, RefSeq DNA:NT_025028, RefSeq Protein:NP_114097, RefSeq RNA:NM_031891, UCSC Genome Browser:NM_031891, UniProtKB:Q9HBT6 No chr18 59000815 59237123 61333582 61555773 +PA26295 64405 HGNC:13251 ENSG00000149654 cadherin 22 CDH22 cadherin 22, type 2 C20orf25, dJ998H6.1 Yes No Ensembl:ENSG00000149654, GenAtlas:CDH22, GeneCard:CDH22, HGNC:HGNC:13251, HumanCyc Gene:HS07635, ModBase:Q9UJ99, NCBI Gene:64405, OMIM:609920, RefSeq DNA:NT_011362, RefSeq Protein:NP_067071, RefSeq RNA:NM_021248, UCSC Genome Browser:NM_021248, UniProtKB:Q9UJ99 No chr20 44802372 44937137 46173733 46308498 +PA26296 64072 HGNC:13733 ENSG00000107736 cadherin related 23 CDH23 cadherin-related 23, cadherin-related family member 23 CDHR23, DFNB12, USH1D Yes Yes Comparative Toxicogenomics Database:64072, Ensembl:ENSG00000107736, GenAtlas:CDH23, GeneCard:CDH23, HGNC:HGNC:13733, HumanCyc Gene:HS03020, ModBase:Q9H251, NCBI Gene:64072, OMIM:601067, OMIM:601386, OMIM:605516, RefSeq DNA:NG_008835, RefSeq DNA:NT_030059, RefSeq Protein:NP_001165401, RefSeq Protein:NP_001165402, RefSeq Protein:NP_001165403, RefSeq Protein:NP_001165404, RefSeq Protein:NP_001165405, RefSeq Protein:NP_001165406, RefSeq Protein:NP_001165407, RefSeq Protein:NP_071407, RefSeq Protein:NP_443068, RefSeq RNA:NM_001171930, RefSeq RNA:NM_001171931, RefSeq RNA:NM_001171932, RefSeq RNA:NM_001171933, RefSeq RNA:NM_001171934, RefSeq RNA:NM_001171935, RefSeq RNA:NM_001171936, RefSeq RNA:NM_022124, RefSeq RNA:NM_052836, UCSC Genome Browser:NM_022124, UniProtKB:A5D6V9, UniProtKB:Q5QGS1, UniProtKB:Q5QGS2, UniProtKB:Q5QGS6, UniProtKB:Q6P152, UniProtKB:Q8N5B3, UniProtKB:Q9H251 No chr10 73156691 73575704 71396934 71815947 +PA165548957 102723377 HGNC:31433 ENSG00000223817 CDH23 antisense RNA 1 CDH23-AS1 bA327E2.3 Yes No Ensembl:ENSG00000223817, GeneCard:NCRNA00223, HGNC:HGNC:31433, NCBI Gene:102723377 No chr10 +PA26297 64403 HGNC:14265 ENSG00000139880 cadherin 24 CDH24 cadherin 24, type 2 CDH11L Yes No Ensembl:ENSG00000139880, GenAtlas:CDH24, GeneCard:CDH24, HGNC:HGNC:14265, ModBase:Q86UP0, NCBI Gene:64403, RefSeq DNA:NT_026437, RefSeq Protein:NP_071923, RefSeq Protein:NP_659422, RefSeq RNA:NM_022478, RefSeq RNA:NM_144985, UCSC Genome Browser:NM_022478, UniProtKB:Q86UP0 No chr14 23516270 23526747 23047061 23057619 +PA26298 60437 HGNC:15902 ENSG00000124215 cadherin 26 CDH26 VR20 Yes No Ensembl:ENSG00000124215, GenAtlas:CDH26, GeneCard:CDH26, HGNC:HGNC:15902, HumanCyc Gene:HS04740, NCBI Gene:60437, RefSeq DNA:NT_011362, RefSeq Protein:NP_068582, RefSeq Protein:NP_817089, RefSeq RNA:NM_021810, RefSeq RNA:NM_177980, UCSC Genome Browser:NM_021810, UniProtKB:Q8IXH8 No chr20 58533471 58588772 59957764 60035629 +PA26299 1001 HGNC:1762 ENSG00000062038 cadherin 3 CDH3 """P-cadherin"", ""cadherin 3, type 1, P-cadherin (placental)""" CDHP, PCAD Yes No Comparative Toxicogenomics Database:1001, Ensembl:ENSG00000062038, GenAtlas:CDH3, GeneCard:CDH3, HGNC:HGNC:1762, HumanCyc Gene:HS00764, ModBase:P22223, NCBI Gene:1001, OMIM:114021, OMIM:225280, OMIM:601553, RefSeq DNA:NG_009096, RefSeq DNA:NT_010498, RefSeq Protein:NP_001784, RefSeq RNA:NM_001793, UCSC Genome Browser:NM_001793, UniProtKB:P22223 No chr16 68678151 68732959 68644820 68727573 +PA26300 1002 HGNC:1763 ENSG00000179242 cadherin 4 CDH4 """R-Cadherin"", ""cadherin 4, type 1, R-cadherin (retinal)""" R-CAD Yes Yes Ensembl:ENSG00000179242, GenAtlas:CDH4, GeneCard:CDH4, HGNC:HGNC:1763, HumanCyc Gene:HS11364, ModBase:P55283, NCBI Gene:1002, OMIM:603006, RefSeq DNA:NT_011362, RefSeq Protein:NP_001785, RefSeq RNA:NM_001794, UCSC Genome Browser:NM_001794, UniProtKB:P55283 No chr20 59827482 60515673 61252426 61940617 +PA26301 1003 HGNC:1764 ENSG00000179776 cadherin 5 CDH5 """VE-cadherin"", ""cadherin 5, type 2 (vascular endothelium)""" 7B4, CD144 Yes No Comparative Toxicogenomics Database:1003, Ensembl:ENSG00000179776, GenAtlas:CDH5, GeneCard:CDH5, HGNC:HGNC:1764, HumanCyc Gene:HS11413, ModBase:P33151, NCBI Gene:1003, OMIM:601120, RefSeq DNA:NT_010498, RefSeq Protein:NP_001786, RefSeq RNA:NM_001795, UCSC Genome Browser:NM_001795, UniProtKB:P33151 No chr16 66400525 66438689 66366607 66404786 +PA26302 1004 HGNC:1765 ENSG00000113361 cadherin 6 CDH6 """K-Cadherin"", ""cadherin 6, type 2, K-cadherin (fetal kidney)""" Yes No Comparative Toxicogenomics Database:1004, Ensembl:ENSG00000113361, GenAtlas:CDH6, GeneCard:CDH6, HGNC:HGNC:1765, HumanCyc Gene:HS03675, ModBase:P55285, NCBI Gene:1004, OMIM:603007, RefSeq DNA:NT_006576, RefSeq Protein:NP_004923, RefSeq RNA:NM_004932, UCSC Genome Browser:NM_004932, UniProtKB:P55285 No chr5 31193762 31329253 31193655 31329146 +PA26303 1005 HGNC:1766 ENSG00000081138 cadherin 7 CDH7 cadherin 7, type 2 Yes No Ensembl:ENSG00000081138, GenAtlas:CDH7, GeneCard:CDH7, HGNC:HGNC:1766, HumanCyc Gene:HS01384, ModBase:Q9ULB5, NCBI Gene:1005, OMIM:605806, RefSeq DNA:NT_025028, RefSeq Protein:NP_004352, RefSeq Protein:NP_387450, RefSeq RNA:NM_004361, RefSeq RNA:NM_033646, UCSC Genome Browser:NM_004361, UniProtKB:Q9ULB5 No chr18 63417488 63548175 65750252 65885136 +PA26304 1006 HGNC:1767 ENSG00000150394 cadherin 8 CDH8 cadherin 8, type 2 Yes No Comparative Toxicogenomics Database:1006, Ensembl:ENSG00000150394, GenAtlas:CDH8, GeneCard:CDH8, HGNC:HGNC:1767, HumanCyc Gene:HS07666, ModBase:P55286, NCBI Gene:1006, OMIM:603008, RefSeq DNA:NT_010498, RefSeq Protein:NP_001787, RefSeq RNA:NM_001796, UCSC Genome Browser:NM_001796, UniProtKB:P55286 No chr16 61681169 62070939 61640435 62036835 +PA26305 1007 HGNC:1768 ENSG00000113100 cadherin 9 CDH9 cadherin 9, type 2 (T1-cadherin) Yes No Ensembl:ENSG00000113100, GenAtlas:CDH9, GeneCard:CDH9, HGNC:HGNC:1768, HumanCyc Gene:HS03648, ModBase:Q9ULB4, NCBI Gene:1007, OMIM:609974, RefSeq DNA:NT_006576, RefSeq Protein:NP_057363, RefSeq RNA:NM_016279, UCSC Genome Browser:NM_016279, UniProtKB:Q9ULB4 No chr5 26880709 27038689 26880600 27038582 +PA33005 92211 HGNC:14550 ENSG00000148600 cadherin related family member 1 CDHR1 cadherin-related family member 1 CORD15, KIAA1775, PCDH21, RP65 Yes No Comparative Toxicogenomics Database:92211, Ensembl:ENSG00000148600, GenAtlas:PCDH21, GeneCard:CDHR1, GeneCard:PCDH21, HGNC:HGNC:14550, HumanCyc Gene:HS07540, ModBase:Q96JP9, NCBI Gene:92211, OMIM:609502, RefSeq DNA:NT_030059, RefSeq Protein:NP_001165442, RefSeq Protein:NP_149091, RefSeq RNA:NM_001171971, RefSeq RNA:NM_033100, UniProtKB:B3KWC7, UniProtKB:Q96JP9 No chr10 85954391 85979377 84194635 84219621 +PA165660231 54825 HGNC:18231 ENSG00000074276 cadherin related family member 2 CDHR2 cadherin-related family member 2, protocadherin LKC FLJ20124, FLJ20383, PC-LKC, PCDH24, PCLKC Yes No Ensembl:ENSG00000074276, GeneCard:CDHR2, HGNC:HGNC:18231, HumanCyc Gene:HS01135, NCBI Gene:54825, RefSeq DNA:NT_023133, RefSeq DNA:NT_023133.12, RefSeq Protein:NP_001165447, RefSeq Protein:NP_060145, RefSeq RNA:NM_001171976, RefSeq RNA:NM_017675, RefSeq RNA:NM_017675.3, UniProtKB:A1L3U4, UniProtKB:Q9BYE9 No chr5 175969512 176022769 176542511 176595768 +PA165617747 222256 HGNC:26308 ENSG00000128536 cadherin related family member 3 CDHR3 cadherin-related family member 3 CDH28, FLJ23834, FLJ44366 Yes No Ensembl:ENSG00000128536, GeneCard:CDHR3, HGNC:HGNC:26308, HumanCyc Gene:HS05194, NCBI Gene:222256, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_689963, RefSeq RNA:NM_152750, UniProtKB:Q6ZTQ4 No chr7 105517251 105676877 105876773 106036431 +PA165696944 389118 HGNC:34527 ENSG00000187492 cadherin related family member 4 CDHR4 cadherin-related family member 4 CDH29, VLLR9392 Yes No Ensembl:ENSG00000187492, GeneCard:CDHR4, HGNC:HGNC:34527, NCBI Gene:389118, RefSeq DNA:NT_022517, RefSeq Protein:NP_001007541, RefSeq RNA:NM_001007540, UniProtKB:A6H8M9 No chr3 49828165 49837254 49790732 49802741 +PA165543311 53841 HGNC:7521 ENSG00000099834 cadherin related family member 5 CDHR5 cadherin-related family member 5 FLJ20219, MU-PCDH, MUCDHL, MUPCDH Yes No Ensembl:ENSG00000099834, GeneCard:CDHR5, HGNC:HGNC:7521, HumanCyc Gene:HS01917, ModBase:Q9HBB8, NCBI Gene:53841, OMIM:606839, RefSeq DNA:NT_009237, RefSeq DNA:NT_035113, RefSeq DNA:NT_035113.6, RefSeq Protein:NP_001165439, RefSeq Protein:NP_068743, RefSeq Protein:NP_112554, RefSeq RNA:NM_001171968, RefSeq RNA:NM_021924, RefSeq RNA:NM_021924.3, RefSeq RNA:NM_031264, RefSeq RNA:NM_031264.2, UniProtKB:B4DV98, UniProtKB:Q58EZ6, UniProtKB:Q9HBB8 No chr11 616565 625067 616565 625067 +PA166352388 84529 HGNC:26929 CDAN1 interacting nuclease 1 CDIN1 C15orf41 FLJ22851, HH114, MGC11326 Yes No HGNC:HGNC:26929, NCBI Gene:84529 No 0 0 0 0 +PA134879441 29965 HGNC:13234 ENSG00000089486 cell death inducing p53 target 1 CDIP1 cell death involved p53-target, cell death-inducing p53 target 1, lipopolysaccharide-induced TNF factor-like C16orf5, CDIP, LITAFL Yes No Ensembl:ENSG00000089486, GeneCard:C16orf5, HGNC:HGNC:13234, HumanCyc Gene:HS01655, ModBase:Q9H305, NCBI Gene:29965, OMIM:610503, RefSeq DNA:NT_010393, RefSeq Protein:NP_001185983, RefSeq Protein:NP_001185984, RefSeq Protein:NP_001185985, RefSeq Protein:NP_037531, RefSeq RNA:NM_001199054, RefSeq RNA:NM_001199055, RefSeq RNA:NM_001199056, RefSeq RNA:NM_013399, UniProtKB:Q9H305 No chr16 4560676 4588816 4510675 4538815 +PA26306 10423 HGNC:1769 ENSG00000103502 CDP-diacylglycerol--inositol 3-phosphatidyltransferase CDIPT phosphatidylinositol synthase PIS, PIS1 Yes No Comparative Toxicogenomics Database:10423, Ensembl:ENSG00000103502, GenAtlas:CDIPT, GeneCard:CDIPT, HGNC:HGNC:1769, HumanCyc Gene:HS02513, ModBase:O14735, NCBI Gene:10423, OMIM:605893, RefSeq DNA:NT_010393, RefSeq Protein:NP_006310, RefSeq RNA:NM_006319, UCSC Genome Browser:NM_006319, UniProtKB:A8K3L7, UniProtKB:O14735 No chr16 29869678 29874801 29858356 29863288 +PA99 983 HGNC:1722 ENSG00000170312 cyclin dependent kinase 1 CDK1 cyclin-dependent kinase 1 CDC2, CDC28A Yes Yes Comparative Toxicogenomics Database:983, Ensembl:ENSG00000170312, GenAtlas:CDC2, GeneCard:CDC2, GeneCard:CDK1, HGNC:HGNC:1722, HumanCyc Gene:HS10099, ModBase:P06493, NCBI Gene:983, OMIM:116940, RefSeq DNA:NT_008583, RefSeq DNA:NT_030059, RefSeq Protein:NP_001124301, RefSeq Protein:NP_001163877, RefSeq Protein:NP_001163878, RefSeq Protein:NP_001777, RefSeq Protein:NP_203698, RefSeq RNA:NM_001130829, RefSeq RNA:NM_001170406, RefSeq RNA:NM_001170407, RefSeq RNA:NM_001786, RefSeq RNA:NM_033379, UCSC Genome Browser:NM_001786, UniProtKB:B7Z3D6, UniProtKB:P06493 No chr10 62538089 62554610 60778331 60794852 +PA26307 8558 HGNC:1770 ENSG00000185324 cyclin dependent kinase 10 CDK10 cyclin-dependent kinase 10 PISSLRE Yes No Comparative Toxicogenomics Database:8558, Ensembl:ENSG00000185324, GenAtlas:CDK10, GeneCard:CDK10, HGNC:HGNC:1770, HumanCyc Gene:HS02463, HumanCyc Gene:HS10760, ModBase:Q15131, NCBI Gene:8558, OMIM:603464, RefSeq DNA:NT_010542, RefSeq Protein:NP_001092003, RefSeq Protein:NP_001153839, RefSeq Protein:NP_443713, RefSeq Protein:NP_443714, RefSeq RNA:NM_001098533, RefSeq RNA:NM_001160367, RefSeq RNA:NM_052987, RefSeq RNA:NM_052988, RefSeq RNA:NR_027702, RefSeq RNA:NR_027703, UCSC Genome Browser:NM_003674, UniProtKB:B7Z537, UniProtKB:Q15131 No chr16 89753076 89762772 89686612 89696364 +PA26263 728642 HGNC:1730 ENSG00000008128 cyclin dependent kinase 11A CDK11A cyclin-dependent kinase 11A CDC2L2, CDC2L3, CDK11-p110, CDK11-p46, CDK11-p58, PITSLRE, p58GTA Yes No Ensembl:ENSG00000008128, GenAtlas:CDC2L2, GeneCard:CDC2L2, GeneCard:CDK11A, HGNC:HGNC:1730, ModBase:Q9UP54, NCBI Gene:728642, OMIM:116951, RefSeq DNA:NT_004350, RefSeq Protein:NP_076916, RefSeq Protein:NP_277071, RefSeq Protein:XP_001713794, RefSeq Protein:XP_001713795, RefSeq Protein:XP_001713796, RefSeq Protein:XP_001713797, RefSeq Protein:XP_001713798, RefSeq Protein:XP_001713799, RefSeq RNA:NM_024011, RefSeq RNA:NM_033527, RefSeq RNA:NM_033528, RefSeq RNA:NM_033529, RefSeq RNA:NM_033531, RefSeq RNA:NM_033532, RefSeq RNA:NM_033534, RefSeq RNA:NM_033536, RefSeq RNA:NM_033537, RefSeq RNA:XM_001713742, RefSeq RNA:XM_001713743, RefSeq RNA:XM_001713744, RefSeq RNA:XM_001713745, RefSeq RNA:XM_001713746, RefSeq RNA:XM_001713747, UCSC Genome Browser:NM_024011, UniProtKB:A8MSR3, UniProtKB:Q4VBY6, UniProtKB:Q9UQ88 No chr1 1633822 1655999 1702383 1724565 +PA26262 984 HGNC:1729 ENSG00000248333 cyclin dependent kinase 11B CDK11B cyclin-dependent kinase 11B CDC2L1, CDK11-p110, CDK11-p46, CDK11-p58 Yes No Comparative Toxicogenomics Database:984, Ensembl:ENSG00000248333, GenAtlas:CDC2L1, GeneCard:CDC2L1, GeneCard:CDK11B, HGNC:HGNC:1729, ModBase:Q9NZS5, NCBI Gene:984, OMIM:176873, RefSeq DNA:NT_004350, RefSeq Protein:NP_277021, RefSeq Protein:NP_277022, RefSeq Protein:NP_277023, RefSeq Protein:NP_277024, RefSeq Protein:NP_277027, RefSeq Protein:NP_277028, RefSeq Protein:XP_001713787, RefSeq Protein:XP_001713800, RefSeq Protein:XP_001716037, RefSeq Protein:XP_001716070, RefSeq Protein:XP_001716089, RefSeq Protein:XP_001716107, RefSeq RNA:NM_001787, RefSeq RNA:NM_033486, RefSeq RNA:NM_033487, RefSeq RNA:NM_033488, RefSeq RNA:NM_033489, RefSeq RNA:NM_033490, RefSeq RNA:NM_033492, RefSeq RNA:NM_033493, RefSeq RNA:XM_001713735, RefSeq RNA:XM_001713748, RefSeq RNA:XM_001715985, RefSeq RNA:XM_001716018, RefSeq RNA:XM_001716037, RefSeq RNA:XM_001716055, UCSC Genome Browser:NM_001787, UniProtKB:P21127 No chr1 1571100 1590473 1635226 1659839 +PA165431656 51755 HGNC:24224 ENSG00000167258 cyclin dependent kinase 12 CDK12 CDC2 related protein kinase 7, cyclin-dependent kinase 12 CRK7, CRKR, CRKRS, KIAA0904 Yes No Comparative Toxicogenomics Database:51755, Ensembl:ENSG00000167258, GeneCard:CDK12, HGNC:HGNC:24224, HumanCyc Gene:HS09531, ModBase:Q9NYV4, NCBI Gene:51755, RefSeq DNA:NT_010755, RefSeq DNA:NT_010783, RefSeq Protein:NP_055898, RefSeq Protein:NP_057591, RefSeq RNA:NM_015083, RefSeq RNA:NM_016507, UniProtKB:B9EIQ6, UniProtKB:Q9NYV4 No chr17 37617739 37721398 39461486 39567560 +PA26264 8621 HGNC:1733 ENSG00000065883 cyclin dependent kinase 13 CDK13 cholinesterase-related cell division controller, cyclin-dependent kinase 13 CDC2L, CDC2L5, CHED, KIAA1791 Yes No Comparative Toxicogenomics Database:8621, Ensembl:ENSG00000065883, GenAtlas:CDC2L5, GeneCard:CDC2L5, GeneCard:CDK13, HGNC:HGNC:1733, HumanCyc Gene:HS00857, ModBase:Q14004, NCBI Gene:8621, OMIM:603309, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_003709, RefSeq Protein:NP_112557, RefSeq RNA:NM_003718, RefSeq RNA:NM_031267, UCSC Genome Browser:NM_003718, UniProtKB:Q14004, UniProtKB:Q53G78, UniProtKB:Q9BVE2 No chr7 39989959 40136733 39949501 40097134 +PA33221 5218 HGNC:8883 ENSG00000058091 cyclin dependent kinase 14 CDK14 cyclin-dependent kinase 14 PFTAIRE1, PFTK1 Yes No Comparative Toxicogenomics Database:5218, Ensembl:ENSG00000058091, GenAtlas:PFTK1, GeneCard:CDK14, GeneCard:PFTK1, HGNC:HGNC:8883, HumanCyc Gene:HS00718, ModBase:O94921, NCBI Gene:5218, OMIM:610679, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_036527, RefSeq RNA:NM_012395, UCSC Genome Browser:NM_012395, UniProtKB:O94921 No chr7 90225681 90839905 90595994 91210590 +PA165696414 65061 HGNC:14434 ENSG00000138395 cyclin dependent kinase 15 CDK15 cyclin-dependent kinase 15 ALS2CR7, PFTAIRE2, PFTK2 Yes No Ensembl:ENSG00000138395, GeneCard:CDK15, HGNC:HGNC:14434, HumanCyc Gene:HS06499, ModBase:Q96Q40, NCBI Gene:65061, RefSeq DNA:NT_005403, RefSeq DNA:NT_005403.16, RefSeq Protein:NP_631897, RefSeq RNA:NM_139158, RefSeq RNA:NM_139158.1, UniProtKB:Q96Q40 No chr2 202655177 202760273 201790324 201895550 +PA33095 5127 HGNC:8749 ENSG00000102225 cyclin dependent kinase 16 CDK16 cyclin-dependent kinase 16, serine/threonine-protein kinase FLJ16665, PCTAIRE, PCTAIRE1, PCTGAIRE, PCTK1 Yes No Comparative Toxicogenomics Database:5127, Ensembl:ENSG00000102225, GenAtlas:PCTK1, GeneCard:CDK16, GeneCard:PCTK1, HGNC:HGNC:8749, HumanCyc Gene:HS02369, ModBase:Q00536, NCBI Gene:5127, OMIM:311550, RefSeq DNA:NG_012517, RefSeq DNA:NT_079573, RefSeq Protein:NP_001163931, RefSeq Protein:NP_006192, RefSeq Protein:NP_148978, RefSeq RNA:NM_001170460, RefSeq RNA:NM_006201, RefSeq RNA:NM_033018, UCSC Genome Browser:NM_006201, UniProtKB:B7Z7C8, UniProtKB:Q00536, UniProtKB:Q9BRL4 No chrX 47077445 47089396 47217881 47229997 +PA33096 5128 HGNC:8750 ENSG00000059758 cyclin dependent kinase 17 CDK17 cyclin-dependent kinase 17 PCTAIRE2, PCTK2 Yes No Comparative Toxicogenomics Database:5128, Ensembl:ENSG00000059758, GenAtlas:PCTK2, GeneCard:CDK17, GeneCard:PCTK2, HGNC:HGNC:8750, HumanCyc Gene:HS00734, ModBase:Q00537, NCBI Gene:5128, OMIM:603440, RefSeq DNA:NT_019546, RefSeq DNA:NT_029419, RefSeq Protein:NP_001163935, RefSeq Protein:NP_002586, RefSeq RNA:NM_001170464, RefSeq RNA:NM_002595, UCSC Genome Browser:NM_002595, UniProtKB:A8K1U6, UniProtKB:Q00537 No chr12 96672039 96794366 96278261 96400588 +PA33097 5129 HGNC:8751 ENSG00000117266 cyclin dependent kinase 18 CDK18 cyclin-dependent kinase 18 PCTAIRE3, PCTK3 Yes No Comparative Toxicogenomics Database:5129, Ensembl:ENSG00000117266, GenAtlas:PCTK3, GeneCard:CDK18, GeneCard:PCTK3, HGNC:HGNC:8751, HumanCyc Gene:HS04111, ModBase:Q07002, NCBI Gene:5129, OMIM:169190, RefSeq DNA:NT_004487, RefSeq Protein:NP_002587, RefSeq Protein:NP_997667, RefSeq Protein:NP_997668, RefSeq RNA:NM_002596, RefSeq RNA:NM_212502, RefSeq RNA:NM_212503, UniProtKB:Q07002, UniProtKB:Q59G02 No chr1 205473684 205501921 205504556 205532793 +PA165617767 23097 HGNC:19338 ENSG00000155111 cyclin dependent kinase 19 CDK19 cyclin-dependent kinase 19 CDC2L6, CDK11, KIAA1028, bA346C16.3 Yes No Comparative Toxicogenomics Database:23097, Ensembl:ENSG00000155111, GeneCard:CDK19, HGNC:HGNC:19338, ModBase:Q9BWU1, NCBI Gene:23097, RefSeq DNA:NT_025741, RefSeq Protein:NP_055891, RefSeq RNA:NM_015076, UniProtKB:Q9BWU1 No chr6 110931181 111136590 110609978 110816531 +PA101 1017 HGNC:1771 ENSG00000123374 cyclin dependent kinase 2 CDK2 cyclin-dependent kinase 2 Yes No Comparative Toxicogenomics Database:1017, Ensembl:ENSG00000123374, GenAtlas:CDK2, GeneCard:CDK2, HGNC:HGNC:1771, HumanCyc Gene:HS04653, ModBase:P24941, NCBI Gene:1017, OMIM:116953, RefSeq DNA:NT_029419, RefSeq Protein:NP_001789, RefSeq Protein:NP_439892, RefSeq RNA:NM_001798, RefSeq RNA:NM_052827, UCSC Genome Browser:NM_001798, UniProtKB:O75100, UniProtKB:P24941 No chr12 56360556 56366573 55966769 55972789 +PA165585688 23552 HGNC:21420 ENSG00000156345 cyclin dependent kinase 20 CDK20 cyclin-dependent kinase 20 CCRK, PNQALRE, p42 Yes No Comparative Toxicogenomics Database:23552, Ensembl:ENSG00000156345, GeneCard:CDK20, HGNC:HGNC:21420, HumanCyc Gene:HS08120, ModBase:Q8IZL9, NCBI Gene:23552, OMIM:610076, RefSeq DNA:NT_008470, RefSeq DNA:NT_023935, RefSeq Protein:NP_001034892, RefSeq Protein:NP_001164110, RefSeq Protein:NP_001164111, RefSeq Protein:NP_036251, RefSeq Protein:NP_848519, RefSeq RNA:NM_001039803, RefSeq RNA:NM_001170639, RefSeq RNA:NM_001170640, RefSeq RNA:NM_012119, RefSeq RNA:NM_178432, UniProtKB:A2A390, UniProtKB:Q8IZL9 No chr9 90581356 90589695 87966441 87974780 +PA26308 8099 HGNC:14002 ENSG00000111328 cyclin dependent kinase 2 associated protein 1 CDK2AP1 cyclin-dependent kinase 2 associated protein 1 DOC1, DORC1, ST19, doc-1, p12DOC-1 Yes No Comparative Toxicogenomics Database:8099, Ensembl:ENSG00000111328, GenAtlas:CDK2AP1, GeneCard:CDK2AP1, HGNC:HGNC:14002, HumanCyc Gene:HS03401, NCBI Gene:8099, OMIM:602198, RefSeq DNA:NT_009755, RefSeq Protein:NP_004633, RefSeq RNA:NM_004642, UCSC Genome Browser:NM_004642, UniProtKB:O14519 No chr12 123745517 123756863 123260970 123272316 +PA128394572 10263 HGNC:30833 ENSG00000167797 cyclin dependent kinase 2 associated protein 2 CDK2AP2 cyclin-dependent kinase 2 associated protein 2, tumor suppressor deleted in oral cancer related 1 DOC-1R, p14 Yes No Comparative Toxicogenomics Database:10263, Ensembl:ENSG00000167797, GeneCard:CDK2AP2, HGNC:HGNC:30833, HumanCyc Gene:HS09642, ModBase:O75956, NCBI Gene:10263, RefSeq DNA:NT_167190, RefSeq Protein:NP_005842, RefSeq RNA:NM_005851, UCSC Genome Browser:NM_005851, UniProtKB:O75956, UniProtKB:Q6IAV4 No chr11 67273961 67276199 67506490 67508728 +PA165585712 HGNC:38493 cyclin-dependent kinase 2 associated protein 2 pseudogene 2 CDK2AP2P2 Yes No HGNC:HGNC:38493 No +PA26309 1018 HGNC:1772 ENSG00000250506 cyclin dependent kinase 3 CDK3 cyclin-dependent kinase 3 Yes No Comparative Toxicogenomics Database:1018, Ensembl:ENSG00000250506, GenAtlas:CDK3, GeneCard:CDK3, HGNC:HGNC:1772, HumanCyc Gene:HS03113, ModBase:Q00526, NCBI Gene:1018, OMIM:123828, RefSeq DNA:NT_010783, RefSeq Protein:NP_001249, RefSeq RNA:NM_001258, UCSC Genome Browser:NM_001258, UniProtKB:Q00526 No chr17 73996235 74002080 76000906 76005999 +PA102 1019 HGNC:1773 ENSG00000135446 cyclin dependent kinase 4 CDK4 cyclin-dependent kinase 4 PSK-J3 Yes Yes Comparative Toxicogenomics Database:1019, Ensembl:ENSG00000135446, GenAtlas:CDK4, GeneCard:CDK4, HGNC:HGNC:1773, HumanCyc Gene:HS06007, ModBase:P11802, NCBI Gene:1019, OMIM:123829, OMIM:609048, RefSeq DNA:NG_007484, RefSeq DNA:NT_029419, RefSeq Protein:NP_000066, RefSeq RNA:NM_000075, UCSC Genome Browser:NM_000075, UniProtKB:P11802 No chr12 58141510 58146304 57747727 57752447 +PA26310 1020 HGNC:1774 ENSG00000164885 cyclin dependent kinase 5 CDK5 cyclin-dependent kinase 5 PSSALRE Yes No Comparative Toxicogenomics Database:1020, Ensembl:ENSG00000164885, GenAtlas:CDK5, GeneCard:CDK5, HGNC:HGNC:1774, HumanCyc Gene:HS09152, ModBase:Q00535, NCBI Gene:1020, OMIM:123831, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001157882, RefSeq Protein:NP_004926, RefSeq RNA:NM_001164410, RefSeq RNA:NM_004935, UCSC Genome Browser:NM_004935, UniProtKB:A1XKG3, UniProtKB:Q00535 No chr7 150750899 150755052 151053812 151057965 +PA26311 8851 HGNC:1775 ENSG00000176749 cyclin dependent kinase 5 regulatory subunit 1 CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) Nck5a, p35, p35nck5a Yes No Comparative Toxicogenomics Database:8851, Ensembl:ENSG00000176749, GenAtlas:CDK5R1, GeneCard:CDK5R1, HGNC:HGNC:1775, HumanCyc Gene:HS11080, NCBI Gene:8851, OMIM:603460, RefSeq DNA:NT_010799, RefSeq Protein:NP_003876, RefSeq RNA:NM_003885, UCSC Genome Browser:NM_003885, UniProtKB:Q15078, UniProtKB:Q8N619 No chr17 30814105 30818271 32485281 32491256 +PA26312 8941 HGNC:1776 ENSG00000171450 cyclin dependent kinase 5 regulatory subunit 2 CDK5R2 """cyclin-dependent kinase 5, regulatory subunit 2 (p39)"", ""neuronal CDK5 activator isoform""" NCK5AI, P39, p39nck5ai Yes No Comparative Toxicogenomics Database:8941, Ensembl:ENSG00000171450, GenAtlas:CDK5R2, GeneCard:CDK5R2, HGNC:HGNC:1776, HumanCyc Gene:HS10308, ModBase:Q13319, NCBI Gene:8941, OMIM:603764, RefSeq DNA:NT_005403, RefSeq Protein:NP_003927, RefSeq RNA:NM_003936, UCSC Genome Browser:NM_003936, UniProtKB:Q13319, UniProtKB:Q5XKD4 No chr2 219824350 219826877 218959628 218962155 +PA26313 51654 HGNC:15880 ENSG00000101391 CDK5 regulatory subunit associated protein 1 CDK5RAP1 C20orf34, C42, CGI-05, HSPC167 Yes No Comparative Toxicogenomics Database:51654, Ensembl:ENSG00000101391, GenAtlas:CDK5RAP1, GeneCard:CDK5RAP1, HGNC:HGNC:15880, HumanCyc Gene:HS02258, ModBase:Q96SZ6, NCBI Gene:51654, OMIM:608200, RefSeq DNA:NT_011362, RefSeq Protein:NP_057166, RefSeq Protein:NP_057492, RefSeq RNA:NM_016082, RefSeq RNA:NM_016408, UCSC Genome Browser:NM_016082, UniProtKB:Q96SZ6 No chr20 31946645 31989375 33358839 33402768 +PA38632 55755 HGNC:18672 ENSG00000136861 CDK5 regulatory subunit associated protein 2 CDK5RAP2 centrosomin C48, CEP215, FLJ10867, MCPH3 Yes No Comparative Toxicogenomics Database:55755, Ensembl:ENSG00000136861, GenAtlas:CDK5RAP2, GeneCard:CDK5RAP2, HGNC:HGNC:18672, HumanCyc Gene:HS06228, NCBI Gene:55755, OMIM:604804, OMIM:608201, RefSeq DNA:NG_008999, RefSeq DNA:NT_008470, RefSeq Protein:NP_001011649, RefSeq Protein:NP_060719, RefSeq RNA:NM_001011649, RefSeq RNA:NM_018249, UCSC Genome Browser:NM_018249, UniProtKB:B3KVI2, UniProtKB:Q05CZ3, UniProtKB:Q96SN8 No chr9 123151147 123342448 120388869 120580170 +PA38633 80279 HGNC:18673 ENSG00000108465 CDK5 regulatory subunit associated protein 3 CDK5RAP3 LXXLL/leucine-zipper-containing ARFbinding protein, ischemic heart CDK5 activator-binding protein C53 C53, FLJ13660, HSF-27, IC53, LZAP, MST016, OK/SW-cl.114 Yes No Comparative Toxicogenomics Database:80279, Ensembl:ENSG00000108465, GenAtlas:CDK5RAP3, GeneCard:CDK5RAP3, HGNC:HGNC:18673, HumanCyc Gene:HS12673, ModBase:Q96JB5, NCBI Gene:80279, OMIM:608202, RefSeq DNA:NT_010783, RefSeq Protein:NP_788276, RefSeq RNA:NM_176096, UCSC Genome Browser:NM_025197, UniProtKB:Q96JB5 No chr17 46047894 46059152 47967904 47981786 +PA103 1021 HGNC:1777 ENSG00000105810 cyclin dependent kinase 6 CDK6 cyclin-dependent kinase 6 PLSTIRE Yes No Comparative Toxicogenomics Database:1021, Ensembl:ENSG00000105810, GenAtlas:CDK6, GeneCard:CDK6, HGNC:HGNC:1777, HumanCyc Gene:HS02812, ModBase:Q00534, NCBI Gene:1021, OMIM:603368, OMIM:612223, RefSeq DNA:NG_015888, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001138778, RefSeq Protein:NP_001250, RefSeq RNA:NM_001145306, RefSeq RNA:NM_001259, UCSC Genome Browser:NM_001259, UniProtKB:A4D1G0, UniProtKB:Q00534 No chr7 92234235 92465941 92604921 92836627 +PA26314 1022 HGNC:1778 ENSG00000134058 cyclin dependent kinase 7 CDK7 cyclin-dependent kinase 7 CAK, CAK1, CDKN7, MO15, STK1 Yes No Comparative Toxicogenomics Database:1022, Ensembl:ENSG00000134058, GenAtlas:CDK7, GeneCard:CDK7, HGNC:HGNC:1778, HumanCyc Gene:HS05811, ModBase:P50613, NCBI Gene:1022, OMIM:601955, RefSeq DNA:NT_006713, RefSeq Protein:NP_001790, RefSeq RNA:NM_001799, UCSC Genome Browser:NM_001799, UniProtKB:P50613 No chr5 68530622 68573257 69234795 69277430 +PA26315 1024 HGNC:1779 ENSG00000132964 cyclin dependent kinase 8 CDK8 cyclin-dependent kinase 8 K35 Yes No Comparative Toxicogenomics Database:1024, Ensembl:ENSG00000132964, GenAtlas:CDK8, GeneCard:CDK8, HGNC:HGNC:1779, HumanCyc Gene:HS05713, ModBase:P49336, NCBI Gene:1024, OMIM:603184, RefSeq DNA:NT_024524, RefSeq Protein:NP_001251, RefSeq RNA:NM_001260, UCSC Genome Browser:NM_001260, UniProtKB:P49336 No chr13 26828262 26979375 26254104 26405238 +PA26316 1025 HGNC:1780 ENSG00000136807 cyclin dependent kinase 9 CDK9 cyclin-dependent kinase 9 C-2k, CDC2L4, PITALRE, TAK Yes Yes Comparative Toxicogenomics Database:1025, Ensembl:ENSG00000136807, GenAtlas:CDK9, GeneCard:CDK9, HGNC:HGNC:1780, HumanCyc Gene:HS06213, ModBase:P50750, NCBI Gene:1025, OMIM:603251, RefSeq DNA:NT_008470, RefSeq Protein:NP_001252, RefSeq RNA:NM_001261, UCSC Genome Browser:NM_001261, UniProtKB:P50750 No chr9 130548305 130553052 127786026 127790782 +PA134871999 54901 HGNC:21050 ENSG00000145996 CDK5 regulatory subunit associated protein 1 like 1 CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 FLJ20342 Yes Yes Comparative Toxicogenomics Database:54901, Ensembl:ENSG00000145996, GeneCard:CDKAL1, HGNC:HGNC:21050, HumanCyc Gene:HS07309, ModBase:Q5VV42, NCBI Gene:54901, OMIM:125853, OMIM:611259, RefSeq DNA:NG_021195, RefSeq DNA:NT_007592, RefSeq Protein:NP_060244, RefSeq RNA:NM_017774, UniProtKB:Q5VV42 No chr6 20534688 21232635 20534457 21232404 +PA26317 8814 HGNC:1781 ENSG00000100490 cyclin dependent kinase like 1 CDKL1 cyclin-dependent kinase-like 1 (CDC2-related kinase) KKIALRE Yes No Comparative Toxicogenomics Database:8814, Ensembl:ENSG00000100490, GenAtlas:CDKL1, GeneCard:CDKL1, HGNC:HGNC:1781, HumanCyc Gene:HS02097, ModBase:Q00532, NCBI Gene:8814, OMIM:603441, RefSeq DNA:NT_026437, RefSeq Protein:NP_004187, RefSeq RNA:NM_004196, UCSC Genome Browser:NM_004196, UniProtKB:Q00532, UniProtKB:Q8WXQ5 No chr14 50796122 50883179 50329404 50397404 +PA26318 8999 HGNC:1782 ENSG00000138769 cyclin dependent kinase like 2 CDKL2 cyclin-dependent kinase-like 2 (CDC2-related kinase) KKIAMRE, P56 Yes No Comparative Toxicogenomics Database:8999, Ensembl:ENSG00000138769, GenAtlas:CDKL2, GeneCard:CDKL2, HGNC:HGNC:1782, HumanCyc Gene:HS06554, ModBase:Q92772, NCBI Gene:8999, OMIM:603442, RefSeq DNA:NT_016354, RefSeq Protein:NP_003939, RefSeq RNA:NM_003948, UCSC Genome Browser:NM_003948, UniProtKB:Q92772 No chr4 76501704 76555721 75576494 75630537 +PA26319 51265 HGNC:15483 ENSG00000006837 cyclin dependent kinase like 3 CDKL3 cyclin-dependent kinase-like 3, serine-threonine protein kinase NKIAMRE NKIAMRE Yes No Ensembl:ENSG00000006837, GenAtlas:CDKL3, GeneCard:CDKL3, HGNC:HGNC:15483, HumanCyc Gene:HS00199, ModBase:Q8IVW4, NCBI Gene:51265, OMIM:608459, RefSeq DNA:NT_034772, RefSeq Protein:NP_001107047, RefSeq Protein:NP_057592, RefSeq RNA:NM_001113575, RefSeq RNA:NM_016508, UCSC Genome Browser:NM_016508, UniProtKB:Q8IVW4 No chr5 133571817 133706805 134298424 134371159 +PA134892546 344387 HGNC:19287 ENSG00000205111 cyclin dependent kinase like 4 CDKL4 cyclin-dependent kinase-like 4 Yes No Ensembl:ENSG00000205111, GeneCard:CDKL4, HGNC:HGNC:19287, ModBase:Q5MAI5, NCBI Gene:344387, RefSeq DNA:NT_022184, RefSeq Protein:NP_001009565, RefSeq RNA:NM_001009565, UniProtKB:Q5MAI5 No chr2 39405688 39471114 39174421 39246815 +PA36218 6792 HGNC:11411 ENSG00000008086 cyclin dependent kinase like 5 CDKL5 cyclin-dependent kinase-like 5 CFAP247, EIEE2, STK9 Yes No Comparative Toxicogenomics Database:6792, Ensembl:ENSG00000008086, GeneCard:CDKL5, HGNC:HGNC:11411, HumanCyc Gene:HS00230, ModBase:O76039, NCBI Gene:6792, OMIM:105830, OMIM:300203, OMIM:300672, OMIM:308350, OMIM:312750, RefSeq DNA:NG_008475, RefSeq DNA:NT_167197, RefSeq Protein:NP_001032420, RefSeq Protein:NP_003150, RefSeq RNA:NM_001037343, RefSeq RNA:NM_003159, UCSC Genome Browser:NM_003159, UniProtKB:O76039 No chrX 18443725 18671749 18425605 18653629 +PA104 1026 HGNC:1784 ENSG00000124762 cyclin dependent kinase inhibitor 1A CDKN1A """Cdk-interacting protein 1"", ""cyclin-dependent kinase inhibitor 1A (p21, Cip1)""" CAP20, CDKN1, CIP1, P21, SDI1, WAF1, p21CIP1, p21Cip1/Waf1 Yes No Comparative Toxicogenomics Database:1026, Ensembl:ENSG00000124762, GenAtlas:CDKN1A, GeneCard:CDKN1A, HGNC:HGNC:1784, HumanCyc Gene:HS04827, ModBase:P38936, NCBI Gene:1026, OMIM:116899, RefSeq DNA:NG_009364, RefSeq DNA:NT_007592, RefSeq Protein:NP_000380, RefSeq Protein:NP_001207706, RefSeq Protein:NP_001207707, RefSeq Protein:NP_510867, RefSeq RNA:NM_000389, RefSeq RNA:NM_001220777, RefSeq RNA:NM_001220778, RefSeq RNA:NM_078467, UCSC Genome Browser:NM_000389, UniProtKB:P38936, UniProtKB:Q6FI05 No chr6 36644237 36655116 36676460 36687339 +PA105 1027 HGNC:1785 ENSG00000111276 cyclin dependent kinase inhibitor 1B CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) KIP1, P27KIP1 Yes No Comparative Toxicogenomics Database:1027, Ensembl:ENSG00000111276, GenAtlas:CDKN1B, GeneCard:CDKN1B, HGNC:HGNC:1785, HumanCyc Gene:HS03396, ModBase:P46527, NCBI Gene:1027, OMIM:600778, OMIM:610755, RefSeq DNA:NG_016341, RefSeq DNA:NT_009714, RefSeq Protein:NP_004055, RefSeq RNA:NM_004064, UCSC Genome Browser:NM_004064, UniProtKB:P46527, UniProtKB:Q6I9V6 No chr12 12870302 12875305 12717270 12722383 +PA26320 1028 HGNC:1786 ENSG00000129757 cyclin dependent kinase inhibitor 1C CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) BWCR, BWS, KIP2, P57 Yes No Comparative Toxicogenomics Database:1028, Ensembl:ENSG00000129757, GenAtlas:CDKN1C, GeneCard:CDKN1C, HGNC:HGNC:1786, HumanCyc Gene:HS05310, ModBase:P49918, NCBI Gene:1028, OMIM:130650, OMIM:600856, RefSeq DNA:NG_008022, RefSeq DNA:NT_009237, RefSeq Protein:NP_000067, RefSeq Protein:NP_001116102, RefSeq Protein:NP_001116103, RefSeq RNA:NM_000076, RefSeq RNA:NM_001122630, RefSeq RNA:NM_001122631, UCSC Genome Browser:NM_000076, UniProtKB:P49918 No chr11 2904448 2907063 2883218 2885804 +PA106 1029 HGNC:1787 ENSG00000147889 cyclin dependent kinase inhibitor 2A CDKN2A CDKN2A/ARF Intron 2 lncRNA, cyclin-dependent kinase 4 inhibitor A, cyclin-dependent kinase inhibitor 2A, inhibitor of cdk4 A, multiple tumour suppressor 1, p14 alternate open reading frame, p19 alternate open reading frame ARF, CAI2, CDK4I, CDKN2, CMM2, INK4, INK4a, MLM, MTS1, P16-INK4A, p14, p14ARF, p16, p16INK4a, p19, p19Arf Yes Yes Comparative Toxicogenomics Database:1029, Ensembl:ENSG00000147889, GenAtlas:CDKN2A, GeneCard:CDKN2A, HGNC:HGNC:1787, HumanCyc Gene:HS07481, ModBase:P42771, ModBase:Q8N726, NCBI Gene:1029, OMIM:151623, OMIM:155601, OMIM:155755, OMIM:600160, OMIM:606719, RefSeq DNA:NG_007485, RefSeq DNA:NT_008413, RefSeq Protein:NP_000068, RefSeq Protein:NP_001182061, RefSeq Protein:NP_478102, RefSeq Protein:NP_478104, RefSeq RNA:NM_000077, RefSeq RNA:NM_001195132, RefSeq RNA:NM_058195, RefSeq RNA:NM_058197, UCSC Genome Browser:NM_000077, UniProtKB:P42771, UniProtKB:Q8N726 No chr9 21967751 21994490 21967752 21995043 +PA162382149 55602 HGNC:24325 ENSG00000168564 CDKN2A interacting protein CDKN2AIP collaborates/cooperates with ARF (alternate reading frame) protein CARF, FLJ20036 Yes No Ensembl:ENSG00000168564, GeneCard:CDKN2AIP, HGNC:HGNC:24325, HumanCyc Gene:HS09787, NCBI Gene:55602, RefSeq DNA:NT_016354, RefSeq Protein:NP_060102, RefSeq RNA:NM_017632, UniProtKB:Q9NXV6 No chr4 184365788 184369348 183444591 183449064 +PA162382150 91368 HGNC:30545 ENSG00000237190 CDKN2A interacting protein N-terminal like CDKN2AIPNL C2AIL, MGC13017 Yes No Ensembl:ENSG00000237190, GeneCard:CDKN2AIPNL, HGNC:HGNC:30545, HumanCyc Gene:HS14112, NCBI Gene:91368, RefSeq DNA:NT_034772, RefSeq Protein:NP_542387, RefSeq RNA:NM_080656, UniProtKB:Q96HQ2 No chr5 133737756 133747598 134402065 134414625 +PA26321 1030 HGNC:1788 ENSG00000147883 cyclin dependent kinase inhibitor 2B CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) CDK4I, INK4B, MTS2, P15, TP15, p15INK4b Yes Yes Comparative Toxicogenomics Database:1030, Ensembl:ENSG00000147883, GenAtlas:CDKN2B, GeneCard:CDKN2B, HGNC:HGNC:1788, HumanCyc Gene:HS07479, ModBase:P42772, NCBI Gene:1030, OMIM:600431, RefSeq DNA:NG_023297, RefSeq DNA:NT_008413, RefSeq Protein:NP_004927, RefSeq Protein:NP_511042, RefSeq RNA:NM_004936, RefSeq RNA:NM_078487, UCSC Genome Browser:NM_004936, UniProtKB:O15125, UniProtKB:P42772 No chr9 22002902 22009312 22002903 22009313 +PA164717802 100048912 HGNC:34341 ENSG00000240498 CDKN2B antisense RNA 1 CDKN2B-AS1 CDKN2B antisense RNA (non-protein coding), antisense RNA in the INK4 locus, non-protein coding RNA 89, p15 antisense RNA ANRIL, CDKN2B-AS, CDKN2BAS, NCRNA00089, RP11-145E5.4, p15AS Yes Yes Ensembl:ENSG00000240498, GeneCard:CDKN2B-AS1, HGNC:HGNC:34341, NCBI Gene:100048912, OMIM:613149, RefSeq DNA:NT_008413, RefSeq RNA:NR_003529 No chr9 21994790 22121096 21994791 22121097 +PA26322 1031 HGNC:1789 ENSG00000123080 cyclin dependent kinase inhibitor 2C CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) INK4C, p18 Yes No Comparative Toxicogenomics Database:1031, Ensembl:ENSG00000123080, GenAtlas:CDKN2C, GeneCard:CDKN2C, HGNC:HGNC:1789, HumanCyc Gene:HS04623, ModBase:P42773, NCBI Gene:1031, OMIM:603369, RefSeq DNA:NT_032977, RefSeq Protein:NP_001253, RefSeq Protein:NP_523240, RefSeq RNA:NM_001262, RefSeq RNA:NM_078626, UCSC Genome Browser:NM_001262, UniProtKB:P42773, UniProtKB:Q6ICV4 No chr1 51434367 51440309 50968695 50974637 +PA26323 1032 HGNC:1790 ENSG00000129355 cyclin dependent kinase inhibitor 2D CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) INK4D, p19 Yes No Comparative Toxicogenomics Database:1032, Ensembl:ENSG00000129355, GenAtlas:CDKN2D, GeneCard:CDKN2D, HGNC:HGNC:1790, HumanCyc Gene:HS05274, ModBase:P55273, NCBI Gene:1032, OMIM:600927, RefSeq DNA:NT_011295, RefSeq Protein:NP_001791, RefSeq Protein:NP_524145, RefSeq RNA:NM_001800, RefSeq RNA:NM_079421, UCSC Genome Browser:NM_001800, UniProtKB:P55273 No chr19 10677138 10679655 10566462 10568979 +PA26324 1033 HGNC:1791 ENSG00000100526 cyclin dependent kinase inhibitor 3 CDKN3 CDK2-associated dual specificity phosphatase, cyclin-dependent kinase inhibitor, cyclin-dependent kinase inhibitor 3, kinase associated phosphatase CDI1, KAP Yes No Comparative Toxicogenomics Database:1033, Ensembl:ENSG00000100526, GenAtlas:CDKN3, GeneCard:CDKN3, HGNC:HGNC:1791, HumanCyc Gene:HS02104, ModBase:Q9C046, NCBI Gene:1033, OMIM:123832, RefSeq DNA:NG_023235, RefSeq DNA:NT_026437, RefSeq Protein:NP_001124323, RefSeq Protein:NP_005183, RefSeq RNA:NM_001130851, RefSeq RNA:NM_005192, UCSC Genome Browser:NM_005192, UniProtKB:Q16667 No chr14 54863657 54886936 54396939 54420218 +PA165548325 441549 HGNC:24913 ENSG00000185267 cerebral dopamine neurotrophic factor CDNF conserved dopamine neurotrophic factor ARMETL1 Yes No Ensembl:ENSG00000185267, GeneCard:CDNF, HGNC:HGNC:24913, NCBI Gene:441549, OMIM:611233, RefSeq DNA:NT_008705, RefSeq DNA:NT_077569, RefSeq Protein:NP_001025125, RefSeq RNA:NM_001029954, UniProtKB:Q49AH0 No chr10 14861251 14879983 14819245 14838073 +PA26327 1036 HGNC:1795 ENSG00000129596 cysteine dioxygenase type 1 CDO1 cysteine dioxygenase, type I Yes No Comparative Toxicogenomics Database:1036, Ensembl:ENSG00000129596, GenAtlas:CDO1, GeneCard:CDO1, HGNC:HGNC:1795, HumanCyc Gene:HS05299, ModBase:Q16878, NCBI Gene:1036, OMIM:603943, RefSeq DNA:NT_034772, RefSeq Protein:NP_001792, RefSeq RNA:NM_001801, UCSC Genome Browser:NM_001801, UniProtKB:Q16878 No chr5 115140430 115152405 115804733 115816708 +PA26328 50937 HGNC:17104 ENSG00000064309 cell adhesion associated, oncogene regulated CDON cell adhesion molecule-related/down-regulated by oncogenes CDO, CDON1, Ihog, ORCAM Yes No Comparative Toxicogenomics Database:50937, Ensembl:ENSG00000064309, GenAtlas:CDON, GeneCard:CDON, HGNC:HGNC:17104, HumanCyc Gene:HS00801, NCBI Gene:50937, OMIM:608707, RefSeq DNA:NT_033899, RefSeq Protein:NP_058648, RefSeq RNA:NM_016952, UCSC Genome Browser:NM_016952, UniProtKB:Q4KMG0 No chr11 125826713 125933187 125956813 126063335 +PA162379006 150383 HGNC:33710 ENSG00000205643 cysteine rich DPF motif domain containing 1 CDPF1 cysteine-rich, DPF motif domain containing 1 C22orf40, CDKN1A, LOC150383 Yes No Ensembl:ENSG00000205643, GeneCard:C22orf40, HGNC:HGNC:33710, ModBase:Q6NVV7, NCBI Gene:150383, RefSeq DNA:NT_011520, RefSeq Protein:NP_997210, RefSeq RNA:NM_207327, UniProtKB:Q6NVV7 No chr22 46639910 46646193 46244013 46250679 +PA26330 1038 HGNC:1798 ENSG00000288642 cerebellar degeneration related protein 1 CDR1 """Cerebellar degeneration-related protein-1 (34kD)"", ""cerebellar degeneration-related protein 1, 34kDa""" CDR, CDR34, CDR62A Yes No Comparative Toxicogenomics Database:1038, Ensembl:ENSG00000288642, GenAtlas:CDR1, GeneCard:CDR1, HGNC:HGNC:1798, ModBase:P51861, NCBI Gene:1038, OMIM:302650, RefSeq DNA:NG_016361, RefSeq DNA:NT_011786, RefSeq Protein:NP_004056, RefSeq RNA:NM_004065, UCSC Genome Browser:NM_004065, UniProtKB:P51861 No chrX 139865425 139866723 140783260 140784558 +PA26331 1039 HGNC:1799 ENSG00000140743 cerebellar degeneration related protein 2 CDR2 """Yo paraneoplastic antigen"", ""cerebellar degeneration-related protein 2, 62kDa""" CDR62, Yo Yes No Comparative Toxicogenomics Database:1039, Ensembl:ENSG00000140743, GenAtlas:CDR2, GeneCard:CDR2, HGNC:HGNC:1799, HumanCyc Gene:HS06754, ModBase:Q01850, NCBI Gene:1039, OMIM:117340, RefSeq DNA:NT_010393, RefSeq Protein:NP_001793, RefSeq RNA:NM_001802, UniProtKB:Q01850 No chr16 22357257 22385938 22345936 22374617 +PA142672137 30850 HGNC:29999 ENSG00000109089 cerebellar degeneration related protein 2 like CDR2L cerebellar degeneration-related protein 2-like, paraneoplastic antigen HUMPPA Yes No Comparative Toxicogenomics Database:30850, Ensembl:ENSG00000109089, GeneCard:CDR2L, HGNC:HGNC:29999, ModBase:Q86X02, NCBI Gene:30850, RefSeq DNA:NT_010783, RefSeq Protein:NP_055418, RefSeq RNA:NM_014603, UniProtKB:Q86X02 No chr17 72983727 73001895 74987632 75005800 +PA26332 94153 HGNC:14390 CMT1A duplicated region transcript 10 CDRT10 Yes No GenAtlas:CDRT10, GeneCard:CDRT10, HGNC:HGNC:14390, NCBI Gene:94153 No chr17 +PA26333 94154 HGNC:14391 CMT1A duplicated region transcript 11 CDRT11 Yes No GenAtlas:CDRT11, GeneCard:CDRT11, HGNC:HGNC:14391, NCBI Gene:94154 No chr17 +PA26334 94155 HGNC:14392 CMT1A duplicated region transcript 12 CDRT12 Yes No GenAtlas:CDRT12, GeneCard:CDRT12, HGNC:HGNC:14392, NCBI Gene:94155 No chr17 +PA26335 94156 HGNC:14393 CMT1A duplicated region transcript 13 CDRT13 Yes No GenAtlas:CDRT13, GeneCard:CDRT13, HGNC:HGNC:14393, NCBI Gene:94156 No chr17 +PA26337 146822 HGNC:14395 ENSG00000223510 CMT1A duplicated region transcript 15 CDRT15 Yes No Ensembl:ENSG00000223510, GenAtlas:CDRT15, GeneCard:CDRT15, HGNC:HGNC:14395, ModBase:Q96T59, NCBI Gene:146822, RefSeq DNA:NT_010718, RefSeq Protein:NP_001007531, RefSeq RNA:NM_001007530, UniProtKB:Q96T59 No chr17 14139173 14140150 14235856 14236833 +PA162382160 256223 HGNC:34075 ENSG00000214819 CMT1A duplicated region transcript 15 like 2 CDRT15L2 CMT1A duplicated region transcript 15-like 2 Yes No Ensembl:ENSG00000214819, GeneCard:CDRT15L2, HGNC:HGNC:34075, NCBI Gene:256223, RefSeq DNA:NT_010718, RefSeq Protein:NP_001177719, RefSeq Protein:XP_001725838, RefSeq Protein:XP_170840, RefSeq RNA:NM_001190790, RefSeq RNA:XM_001725786, RefSeq RNA:XM_170840 No chr17 20483037 20484224 20579724 20580911 +PA162382151 644694 HGNC:34074 ENSG00000227255 CMT1A duplicated region transcript 15 pseudogene 2 CDRT15P2 Yes No Ensembl:ENSG00000227255, GeneCard:CDRT15P2, HGNC:HGNC:34074, NCBI Gene:644694, RefSeq DNA:NT_010718, RefSeq Protein:XP_001725473, RefSeq Protein:XP_937402, RefSeq RNA:NR_033865, RefSeq RNA:XM_001725421, RefSeq RNA:XM_932309 No chr17 15668017 15669003 15764703 15765689 +PA26338 94144 HGNC:14381 CMT1A duplicated region transcript 2 CDRT2 Yes No GenAtlas:CDRT2, GeneCard:CDRT2, HGNC:HGNC:14381, NCBI Gene:94144 No chr17 +PA26339 94145 HGNC:14382 CMT1A duplicated region transcript 3 CDRT3 Yes No GenAtlas:CDRT3, GeneCard:CDRT3, HGNC:HGNC:14382, NCBI Gene:94145 No chr17 +PA26340 284040 HGNC:14383 ENSG00000239704 CMT1A duplicated region transcript 4 CDRT4 FLJ36674 Yes No Ensembl:ENSG00000239704, GenAtlas:CDRT4, GeneCard:CDRT4, HGNC:HGNC:14383, HumanCyc Gene:HS16434, NCBI Gene:284040, RefSeq DNA:NT_010718, RefSeq Protein:NP_001191406, RefSeq Protein:NP_775893, RefSeq RNA:NM_001204477, RefSeq RNA:NM_173622, UniProtKB:Q8N9R6 No chr17 15339332 15370925 15436015 15467611 +PA26341 94148 HGNC:14384 CMT1A duplicated region transcript 5 CDRT5 Yes No GenAtlas:CDRT5, GeneCard:CDRT5, HGNC:HGNC:14384, NCBI Gene:94148 No chr17 +PA26343 94150 HGNC:14386 ENSG00000259944 CMT1A duplicated region transcript 7 (non-protein coding) CDRT7 long intergenic non-protein coding RNA 25, non-protein coding RNA 25 LINC00025, NCRNA00025 Yes No Ensembl:ENSG00000259944, GenAtlas:CDRT7, GeneCard:CDRT7, HGNC:HGNC:14386, NCBI Gene:94150, RefSeq RNA:NR_033371 No chr17 14934292 14935274 15030975 15031957 +PA26344 94151 HGNC:14387 ENSG00000265163 CMT1A duplicated region transcript 8 CDRT8 Yes No Ensembl:ENSG00000265163, GenAtlas:CDRT8, GeneCard:CDRT8, HGNC:HGNC:14387, NCBI Gene:94151 No chr17 15008302 15009504 15104985 15106187 +PA26346 1040 HGNC:1800 ENSG00000163624 CDP-diacylglycerol synthase 1 CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1, phosphatidate cytidylyltransferase Yes No Comparative Toxicogenomics Database:1040, Ensembl:ENSG00000163624, GenAtlas:CDS1, GeneCard:CDS1, HGNC:HGNC:1800, HumanCyc Gene:HS08895, NCBI Gene:1040, OMIM:603548, RefSeq DNA:NT_016354, RefSeq Protein:NP_001254, RefSeq RNA:NM_001263, UCSC Genome Browser:NM_001263, UniProtKB:Q92903 No chr4 85504057 85572493 84582904 84651340 +PA26347 8760 HGNC:1801 ENSG00000101290 CDP-diacylglycerol synthase 2 CDS2 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2, phosphatidate cytidylyltransferase 2 Yes No Comparative Toxicogenomics Database:8760, Ensembl:ENSG00000101290, GenAtlas:CDS2, GeneCard:CDS2, HGNC:HGNC:1801, HumanCyc Gene:HS02232, ModBase:O95674, NCBI Gene:8760, OMIM:603549, RefSeq DNA:NT_011387, RefSeq Protein:NP_003809, RefSeq RNA:NM_003818, UCSC Genome Browser:NM_003818, UniProtKB:O95674 No chr20 5107407 5178533 5126761 5197887 +PA26348 1041 HGNC:1802 ENSG00000204539 corneodesmosin CDSN D6S586E Yes Yes Comparative Toxicogenomics Database:1041, Ensembl:ENSG00000204539, GenAtlas:CDSN, GeneCard:CDSN, HGNC:HGNC:1802, HumanCyc Gene:HS06288, NCBI Gene:1041, OMIM:146520, OMIM:602593, RefSeq DNA:NG_012192, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001255, RefSeq RNA:NM_001264, UCSC Genome Browser:NM_001264, UniProtKB:Q15517 No chr6 31082865 31088252 31115088 31120475 +PA145008572 81620 HGNC:24576 ENSG00000167513 chromatin licensing and DNA replication factor 1 CDT1 DUP, RIS2 Yes No Comparative Toxicogenomics Database:81620, Ensembl:ENSG00000167513, GeneCard:CDT1, HGNC:HGNC:24576, HumanCyc Gene:HS15557, NCBI Gene:81620, OMIM:605525, RefSeq DNA:NT_010542, RefSeq Protein:NP_112190, RefSeq RNA:NM_030928, UniProtKB:Q9H211 No chr16 88870186 88875666 88803778 88809258 +PA142672138 55573 HGNC:26928 ENSG00000091527 CDV3 homolog CDV3 CDV3 homolog (mouse), carnitine deficiency-associated gene expressed in ventricle 3 (mouse) H41 Yes No Comparative Toxicogenomics Database:55573, Ensembl:ENSG00000091527, GeneCard:CDV3, HGNC:HGNC:26928, HumanCyc Gene:HS01737, ModBase:Q9UKY7, NCBI Gene:55573, RefSeq DNA:NT_005612, RefSeq Protein:NP_001127894, RefSeq Protein:NP_001127895, RefSeq Protein:NP_060018, RefSeq RNA:NM_001134422, RefSeq RNA:NM_001134423, RefSeq RNA:NM_017548, UniProtKB:B3KUC2, UniProtKB:Q9UKY7 No chr3 133292434 133309118 133573563 133590274 +PA26351 1044 HGNC:1805 ENSG00000113722 caudal type homeobox 1 CDX1 Yes No Comparative Toxicogenomics Database:1044, Ensembl:ENSG00000113722, GenAtlas:CDX1, GeneCard:CDX1, HGNC:HGNC:1805, HumanCyc Gene:HS03711, ModBase:P47902, NCBI Gene:1044, OMIM:600746, RefSeq DNA:NT_029289, RefSeq Protein:NP_001795, RefSeq RNA:NM_001804, UCSC Genome Browser:NM_001804, UniProtKB:P47902 No chr5 149546344 149564121 150166781 150184558 +PA26352 1045 HGNC:1806 ENSG00000165556 caudal type homeobox 2 CDX2 CDX3 Yes Yes Ensembl:ENSG00000165556, GenAtlas:CDX2, GeneCard:CDX2, HGNC:HGNC:1806, HumanCyc Gene:HS09249, ModBase:Q99626, NCBI Gene:1045, OMIM:600297, RefSeq DNA:NT_024524, RefSeq Protein:NP_001256, RefSeq RNA:NM_001265, UCSC Genome Browser:NM_001265, UniProtKB:Q99626 No chr13 28536205 28543505 27960918 27969368 +PA26353 1046 HGNC:1808 ENSG00000131264 caudal type homeobox 4 CDX4 Yes No Comparative Toxicogenomics Database:1046, Ensembl:ENSG00000131264, GenAtlas:CDX4, GeneCard:CDX4, HGNC:HGNC:1808, HumanCyc Gene:HS05509, ModBase:O14627, NCBI Gene:1046, OMIM:300025, RefSeq DNA:NT_011669, RefSeq Protein:NP_005184, RefSeq RNA:NM_005193, UCSC Genome Browser:NM_005193, UniProtKB:O14627 No chrX 72667090 72674421 73447254 73454585 +PA26354 9085 HGNC:1809 ENSG00000172288, ENSG00000172352 chromodomain Y-linked 1 CDY1 chromodomain protein, Y-linked, 1 CDY1A Yes No Ensembl:ENSG00000172288, Ensembl:ENSG00000172352, GenAtlas:CDY1, GeneCard:CDY1, HGNC:HGNC:1809, HumanCyc Gene:HS10483, HumanCyc Gene:HS10499, NCBI Gene:9085, OMIM:400016, RefSeq DNA:NG_004755, RefSeq DNA:NG_011754, RefSeq DNA:NT_011903, RefSeq Protein:NP_004671, RefSeq Protein:NP_733841, RefSeq RNA:NM_004680, RefSeq RNA:NM_170723, UCSC Genome Browser:NM_004680, UniProtKB:Q9Y6F8 No chrY 27768264 27771049 25622115 25625511 +PA134939783 140043 HGNC:23848 ENSG00000226042 chromodomain protein, Y-linked 10 pseudogene CDY10P Yes No Ensembl:ENSG00000226042, GeneCard:CDY10P, HGNC:HGNC:23848, NCBI Gene:140043, RefSeq DNA:NG_004832, RefSeq DNA:NT_011875 No chrY 23798487 23801354 21636601 21639468 +PA134973775 378014 HGNC:23852 ENSG00000230029 chromodomain protein, Y-linked 11 pseudogene CDY11P Yes No Ensembl:ENSG00000230029, GeneCard:CDY11P, HGNC:HGNC:23852, NCBI Gene:378014, RefSeq DNA:NG_004832, RefSeq DNA:NT_011875 No chrY 23858031 23861059 21696145 21699173 +PA134969747 386734 HGNC:23856 ENSG00000228850 chromodomain protein, Y-linked 12 pseudogene CDY12P Yes No Ensembl:ENSG00000228850, GeneCard:CDY12P, HGNC:HGNC:23856, NCBI Gene:386734, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 24210744 24211952 22064597 22065805 +PA134899166 386735 HGNC:23857 ENSG00000224873 chromodomain protein, Y-linked 13 pseudogene CDY13P Yes No Ensembl:ENSG00000224873, GeneCard:CDY13P, HGNC:HGNC:23857, NCBI Gene:386735, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 24666735 24667943 22520588 22521796 +PA134993200 386736 HGNC:23858 ENSG00000226873 chromodomain protein, Y-linked 14 pseudogene CDY14P Yes No Ensembl:ENSG00000226873, GeneCard:CDY14P, HGNC:HGNC:23858, NCBI Gene:386736, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 25820425 25821632 23674278 23675485 +PA134954681 386737 HGNC:23859 ENSG00000223362 chromodomain protein, Y-linked 15 pseudogene CDY15P Yes No Ensembl:ENSG00000223362, GeneCard:CDY15P, HGNC:HGNC:23859, NCBI Gene:386737, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 26000418 26003659 23854271 23857512 +PA134951740 386738 HGNC:23860 chromodomain protein, Y-linked 16 pseudogene CDY16P Yes No GeneCard:CDY16P, HGNC:HGNC:23860, NCBI Gene:386738, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 26007617 26008947 23861470 23862800 +PA134922845 386739 HGNC:23861 ENSG00000231375 chromodomain protein, Y-linked 17 pseudogene CDY17P Yes No Ensembl:ENSG00000231375, GeneCard:CDY17P, HGNC:HGNC:23861, NCBI Gene:386739, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 26195924 26198060 24049777 24051913 +PA134975204 386740 HGNC:23862 ENSG00000232205 chromodomain protein, Y-linked 18 pseudogene CDY18P Yes No Ensembl:ENSG00000232205, GeneCard:CDY18P, HGNC:HGNC:23862, NCBI Gene:386740, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 26249933 26253380 24103786 24107233 +PA134945953 386741 HGNC:23863 ENSG00000237823 chromodomain protein, Y-linked 19 pseudogene CDY19P Yes No Ensembl:ENSG00000237823, GeneCard:CDY19P, HGNC:HGNC:23863, NCBI Gene:386741, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 27709054 27712501 25562907 25566354 +PA134912535 253175 HGNC:23920 ENSG00000172352 chromodomain Y-linked 1B CDY1B chromodomain protein, Y-linked, 1B Yes No Ensembl:ENSG00000172352, GeneCard:CDY1B, HGNC:HGNC:23920, HumanCyc Gene:HS11941, NCBI Gene:253175, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_001003894, RefSeq Protein:NP_001003895, RefSeq RNA:NM_001003894, RefSeq RNA:NM_001003895 No chrY 26191376 26194161 24044620 24048016 +PA134973772 386742 HGNC:23864 ENSG00000225609 chromodomain protein, Y-linked 20 pseudogene CDY20P Yes No Ensembl:ENSG00000225609, GeneCard:CDY20P, HGNC:HGNC:23864, NCBI Gene:386742, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 27764365 27766501 25618218 25620354 +PA134961150 386743 HGNC:23865 chromodomain protein, Y-linked 21 pseudogene CDY21P Yes No GeneCard:CDY21P, HGNC:HGNC:23865, NCBI Gene:386743, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 27953451 27954781 25807304 25808634 +PA134978006 386744 HGNC:23866 ENSG00000229343 chromodomain protein, Y-linked 22 pseudogene CDY22P Yes No Ensembl:ENSG00000229343, GeneCard:CDY22P, HGNC:HGNC:23866, NCBI Gene:386744, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 27958739 27961980 25812592 25815833 +PA134949526 386745 HGNC:23867 ENSG00000231716 chromodomain protein, Y-linked 23 pseudogene CDY23P Yes No Ensembl:ENSG00000231716, GeneCard:CDY23P, HGNC:HGNC:23867, NCBI Gene:386745, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 28140738 28141945 25994591 25995798 +PA26355 9426 HGNC:1810 ENSG00000129873, ENSG00000182415 chromodomain Y-linked 2A CDY2A chromodomain protein, Y-linked, 2A CDY2 Yes No Ensembl:ENSG00000129873, Ensembl:ENSG00000182415, GenAtlas:CDY2A, GeneCard:CDY2A, HGNC:HGNC:1810, HumanCyc Gene:HS05312, HumanCyc Gene:HS05313, NCBI Gene:9426, OMIM:400018, RefSeq DNA:NT_011875, RefSeq Protein:NP_004816, RefSeq RNA:NM_004825, UCSC Genome Browser:NM_004825, UniProtKB:Q9Y6F7 No chrY 20137667 20139626 18025787 18027746 +PA142672136 203611 HGNC:23921 ENSG00000129873 chromodomain Y-linked 2B CDY2B chromodomain protein, Y-linked, 2B CDY Yes No Ensembl:ENSG00000129873, GeneCard:CDY2B, HGNC:HGNC:23921, HumanCyc Gene:HS11930, NCBI Gene:203611, RefSeq DNA:NT_011875, RefSeq Protein:NP_001001722, RefSeq RNA:NM_001001722 No chrY 19990140 19992099 17878260 17880219 +PA134980626 286556 HGNC:23849 ENSG00000232235 chromodomain protein, Y-linked 3 pseudogene CDY3P Yes No Ensembl:ENSG00000232235, GeneCard:CDY3P, HGNC:HGNC:23849, NCBI Gene:286556, RefSeq DNA:NG_003131, RefSeq DNA:NT_086998 No chrY 9002837 9005636 9165228 9168027 +PA134976802 386729 HGNC:23872 ENSG00000228411 chromodomain protein, Y-linked 4 pseudogene CDY4P Yes No Ensembl:ENSG00000228411, GeneCard:CDY4P, HGNC:HGNC:23872, NCBI Gene:386729, RefSeq DNA:NG_003138, RefSeq DNA:NT_011875 No chrY 14913074 14915991 12801341 12804258 +PA134987271 378008 HGNC:23850 ENSG00000226449 chromodomain protein, Y-linked 5 pseudogene CDY5P Yes No Ensembl:ENSG00000226449, GeneCard:CDY5P, HGNC:HGNC:23850, NCBI Gene:378008, RefSeq DNA:NT_011875 No chrY 19833077 19835075 17721197 17723195 +PA134970100 386730 HGNC:23853 ENSG00000229138 chromodomain protein, Y-linked 6 pseudogene CDY6P Yes No Ensembl:ENSG00000229138, GeneCard:CDY6P, HGNC:HGNC:23853, NCBI Gene:386730, RefSeq DNA:NT_011875 No chrY 19993878 19996014 17881998 17884134 +PA134899859 386731 HGNC:23854 ENSG00000237558 chromodomain protein, Y-linked 7 pseudogene CDY7P Yes No Ensembl:ENSG00000237558, GeneCard:CDY7P, HGNC:HGNC:23854, NCBI Gene:386731 No chrY 20063148 20065444 17951268 17953564 +PA134867173 386732 HGNC:23855 ENSG00000224033 chromodomain protein, Y-linked 8 pseudogene CDY8P Yes No Ensembl:ENSG00000224033, GeneCard:CDY8P, HGNC:HGNC:23855, NCBI Gene:386732, RefSeq DNA:NT_011875 No chrY 20133753 20135889 18021873 18024009 +PA134925803 378011 HGNC:23851 ENSG00000232899 chromodomain protein, Y-linked 9 pseudogene CDY9P Yes No Ensembl:ENSG00000232899, GeneCard:CDY9P, HGNC:HGNC:23851, NCBI Gene:378011, RefSeq DNA:NT_011875 No chrY 20344703 20346701 18182817 18184815 +PA26356 9425 HGNC:1811 ENSG00000153046 chromodomain Y like CDYL """CDY-like, autosomal"", ""chromodomain protein, Y-like"", ""testis-specific chromodomain Y-like protein""" CDYL1, DKFZP586C1622 Yes No Comparative Toxicogenomics Database:9425, Ensembl:ENSG00000153046, GenAtlas:CDYL, GeneCard:CDYL, HGNC:HGNC:1811, HumanCyc Gene:HS07876, ModBase:Q9Y232, NCBI Gene:9425, OMIM:603778, RefSeq DNA:NT_007592, RefSeq Protein:NP_001137442, RefSeq Protein:NP_001137443, RefSeq Protein:NP_004815, RefSeq RNA:NM_001143970, RefSeq RNA:NM_001143971, RefSeq RNA:NM_001368125, RefSeq RNA:NM_004824, UCSC Genome Browser:NM_004824, UniProtKB:B4DLG4, UniProtKB:Q9Y232 No chr6 4706393 4955778 4706159 4955544 +PA134903387 124359 HGNC:23030 ENSG00000166446 chromodomain Y like 2 CDYL2 chromodomain protein, Y-like 2 FLJ38866 Yes No Ensembl:ENSG00000166446, GeneCard:CDYL2, HGNC:HGNC:23030, HumanCyc Gene:HS09400, ModBase:Q8N8U2, NCBI Gene:124359, RefSeq DNA:NT_010498, RefSeq Protein:NP_689555, RefSeq RNA:NM_152342, UniProtKB:Q8N8U2 No chr16 80637675 80838175 80597899 80805043 +PA26358 634 HGNC:1814 ENSG00000079385 CEA cell adhesion molecule 1 CEACAM1 carcinoembryonic antigen related cell adhesion molecule 1, carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) BGP, BGP1, CD66a Yes No Comparative Toxicogenomics Database:634, Ensembl:ENSG00000079385, GenAtlas:CEACAM1, GeneCard:CEACAM1, HGNC:HGNC:1814, HumanCyc Gene:HS01324, ModBase:P13688, NCBI Gene:634, OMIM:109770, RefSeq DNA:NT_011109, RefSeq Protein:NP_001020083, RefSeq Protein:NP_001171742, RefSeq Protein:NP_001171744, RefSeq Protein:NP_001171745, RefSeq Protein:NP_001192273, RefSeq Protein:NP_001703, RefSeq RNA:NM_001024912, RefSeq RNA:NM_001184813, RefSeq RNA:NM_001184815, RefSeq RNA:NM_001184816, RefSeq RNA:NM_001205344, RefSeq RNA:NM_001712, UCSC Genome Browser:NM_001712, UniProtKB:P13688, UniProtKB:Q16170, UniProtKB:Q5UB49 No chr19 43011458 43032661 42507306 42528509 +PA142672131 388551 HGNC:31948 ENSG00000213892 CEA cell adhesion molecule 16, tectorial membrane component CEACAM16 carcinoembryonic antigen related cell adhesion molecule 16, carcinoembryonic antigen-related cell adhesion molecule 16 DFNA4B Yes No Ensembl:ENSG00000213892, GeneCard:CEACAM16, HGNC:HGNC:31948, ModBase:Q2WEN9, NCBI Gene:388551, RefSeq DNA:NT_011109, RefSeq Protein:NP_001034302, RefSeq RNA:NM_001039213, UniProtKB:A7LI12 No chr19 45202421 45213986 44699151 44710714 +PA142672132 729767 HGNC:31949 ENSG00000213822 CEA cell adhesion molecule 18 CEACAM18 carcinoembryonic antigen related cell adhesion molecule 18, carcinoembryonic antigen-related cell adhesion molecule 18 Yes No Ensembl:ENSG00000213822, GeneCard:CEACAM18, HGNC:HGNC:31949, ModBase:A8MTB9, NCBI Gene:729767, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073874, RefSeq RNA:NM_001080405, UniProtKB:C9JN24 No chr19 51981897 51993859 51478543 51491261 +PA142672133 56971 HGNC:31951 ENSG00000186567 CEA cell adhesion molecule 19 CEACAM19 carcinoembryonic antigen related cell adhesion molecule 19, carcinoembryonic antigen-related cell adhesion molecule 19 CEAL1 Yes No Ensembl:ENSG00000186567, GeneCard:CEACAM19, HGNC:HGNC:31951, ModBase:Q7Z692, NCBI Gene:56971, OMIM:606691, RefSeq DNA:NT_011109, RefSeq Protein:NP_001121365, RefSeq Protein:NP_064604, RefSeq RNA:NM_001127893, RefSeq RNA:NM_020219, UniProtKB:Q5XJ15, UniProtKB:Q7Z692 No chr19 45174724 45187631 44671452 44684355 +PA142672134 125931 HGNC:24879 ENSG00000273777 CEA cell adhesion molecule 20 CEACAM20 carcinoembryonic antigen related cell adhesion molecule 20, carcinoembryonic antigen-related cell adhesion molecule 20 UNQ9366 Yes No Ensembl:ENSG00000273777, GeneCard:CEACAM20, HGNC:HGNC:24879, ModBase:Q6UY09, NCBI Gene:125931, RefSeq DNA:NT_011109, RefSeq Protein:NP_001096067, RefSeq Protein:NP_001096068, RefSeq Protein:NP_001096069, RefSeq Protein:NP_001096070, RefSeq RNA:NM_001102597, RefSeq RNA:NM_001102598, RefSeq RNA:NM_001102599, RefSeq RNA:NM_001102600, UniProtKB:Q6UY09 No chr19 45010211 45033548 44503838 44530100 +PA142672135 90273 HGNC:28834 ENSG00000007129 CEA cell adhesion molecule 21 CEACAM21 carcinoembryonic antigen related cell adhesion molecule 21, carcinoembryonic antigen-related cell adhesion molecule 21 FLJ13540, R29124_1 Yes No Ensembl:ENSG00000007129, GeneCard:CEACAM21, HGNC:HGNC:28834, HumanCyc Gene:HS12019, NCBI Gene:90273, RefSeq DNA:NT_011109, RefSeq Protein:NP_001091976, RefSeq Protein:NP_291021, RefSeq RNA:NM_001098506, RefSeq RNA:NM_033543, UniProtKB:Q3KPI0 No chr19 42055886 42093255 41549518 41586844 +PA26359 1084 HGNC:1815 ENSG00000170956 CEA cell adhesion molecule 3 CEACAM3 carcinoembryonic antigen related cell adhesion molecule 3, carcinoembryonic antigen-related cell adhesion molecule 3 CD66d, CGM1, CGM1a Yes No Comparative Toxicogenomics Database:1084, Ensembl:ENSG00000170956, GenAtlas:CEACAM3, GeneCard:CEACAM3, HGNC:HGNC:1815, HumanCyc Gene:HS10218, ModBase:P40198, NCBI Gene:1084, OMIM:609142, RefSeq DNA:NT_011109, RefSeq Protein:NP_001806, RefSeq RNA:NM_001815, UCSC Genome Browser:NM_001815, UniProtKB:P40198 No chr19 42300522 42315591 41796590 41811553 +PA26360 1089 HGNC:1816 ENSG00000105352 CEA cell adhesion molecule 4 CEACAM4 carcinoembryonic antigen related cell adhesion molecule 4, carcinoembryonic antigen-related cell adhesion molecule 4 CGM7 Yes No Ensembl:ENSG00000105352, GenAtlas:CEACAM4, GeneCard:CEACAM4, HGNC:HGNC:1816, HumanCyc Gene:HS02715, ModBase:O75871, NCBI Gene:1089, RefSeq DNA:NT_011109, RefSeq Protein:NP_001808, RefSeq RNA:NM_001817, UCSC Genome Browser:NM_001817, UniProtKB:O75871 No chr19 42125344 42133442 41616986 41627087 +PA26361 1048 HGNC:1817 ENSG00000105388 CEA cell adhesion molecule 5 CEACAM5 carcinoembryonic antigen related cell adhesion molecule 5, carcinoembryonic antigen-related cell adhesion molecule 5 CD66e, CEA Yes No Comparative Toxicogenomics Database:1048, Ensembl:ENSG00000105388, GenAtlas:CEACAM5, GeneCard:CEACAM5, HGNC:HGNC:1817, HumanCyc Gene:HS02729, ModBase:P06731, NCBI Gene:1048, OMIM:114890, RefSeq DNA:NT_011109, RefSeq Protein:NP_004354, RefSeq RNA:NM_004363, UCSC Genome Browser:NM_004363, UniProtKB:P06731 No chr19 42212530 42234437 41708585 41730433 +PA26362 4680 HGNC:1818 ENSG00000086548 CEA cell adhesion molecule 6 CEACAM6 carcinoembryonic antigen related cell adhesion molecule 6, carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) CD66c, NCA, NCA-50/90 Yes No Comparative Toxicogenomics Database:4680, Ensembl:ENSG00000086548, GenAtlas:CEACAM6, GeneCard:CEACAM6, HGNC:HGNC:1818, HumanCyc Gene:HS01534, ModBase:P40199, NCBI Gene:4680, OMIM:163980, RefSeq DNA:NT_011109, RefSeq Protein:NP_002474, RefSeq RNA:NM_002483, UCSC Genome Browser:NM_002483, UniProtKB:P40199 No chr19 42259398 42276113 41755421 41772211 +PA26363 1087 HGNC:1819 ENSG00000007306 CEA cell adhesion molecule 7 CEACAM7 carcinoembryonic antigen gene family member 2, carcinoembryonic antigen related cell adhesion molecule 7, carcinoembryonic antigen-related cell adhesion molecule 7 CEA, CGM2 Yes No Ensembl:ENSG00000007306, GenAtlas:CEACAM7, GeneCard:CEACAM7, HGNC:HGNC:1819, HumanCyc Gene:HS00210, ModBase:Q14002, NCBI Gene:1087, RefSeq DNA:NT_011109, RefSeq Protein:NP_008821, RefSeq RNA:NM_006890, UCSC Genome Browser:NM_006890, UniProtKB:Q14002 No chr19 42177235 42192196 41673307 41688277 +PA26364 1088 HGNC:1820 ENSG00000124469 CEA cell adhesion molecule 8 CEACAM8 carcinoembryonic antigen related cell adhesion molecule 8, carcinoembryonic antigen-related cell adhesion molecule 8 CD66b, CGM6 Yes No Ensembl:ENSG00000124469, GenAtlas:CEACAM8, GeneCard:CEACAM8, HGNC:HGNC:1820, HumanCyc Gene:HS04774, ModBase:P31997, NCBI Gene:1088, RefSeq DNA:NT_011109, RefSeq Protein:NP_001807, RefSeq RNA:NM_001816, UCSC Genome Browser:NM_001816, UniProtKB:P31997, UniProtKB:Q0Z7S6 No chr19 43084393 43099082 42580243 42595016 +PA26365 1090 HGNC:1821 ENSG00000233681 carcinoembryonic antigen-related cell adhesion molecule pseudogene 1 CEACAMP1 Yes No Ensembl:ENSG00000233681, GenAtlas:CEACAMP1, GeneCard:CEACAMP1, HGNC:HGNC:1821, NCBI Gene:1090, RefSeq DNA:NG_001096, RefSeq DNA:NT_011109 No chr19 43124325 43137288 42620173 42633136 +PA26366 1098 HGNC:1822 ENSG00000241104 carcinoembryonic antigen-related cell adhesion molecule pseudogene 10 CEACAMP10 Yes No Ensembl:ENSG00000241104, GenAtlas:CEACAMP10, GeneCard:CEACAMP10, HGNC:HGNC:1822, NCBI Gene:1098, RefSeq DNA:NG_001104, RefSeq DNA:NT_011109 No chr19 43724140 43725051 43219988 43220899 +PA26367 1086 HGNC:1823 ENSG00000236123 carcinoembryonic antigen-related cell adhesion molecule pseudogene 11 CEACAMP11 Yes No Ensembl:ENSG00000236123, GenAtlas:CEACAMP11, GeneCard:CEACAMP11, HGNC:HGNC:1823, NCBI Gene:1086, RefSeq DNA:NG_001095, RefSeq DNA:NT_011109 No chr19 43787588 43788498 43283436 43284346 +PA26368 1091 HGNC:1824 ENSG00000230558 carcinoembryonic antigen-related cell adhesion molecule pseudogene 2 CEACAMP2 Yes No Ensembl:ENSG00000230558, GenAtlas:CEACAMP2, GeneCard:CEACAMP2, HGNC:HGNC:1824, NCBI Gene:1091, RefSeq DNA:NG_001097, RefSeq DNA:NT_011109 No chr19 43064619 43064907 42560437 42560795 +PA26369 1092 HGNC:1825 ENSG00000239736 carcinoembryonic antigen-related cell adhesion molecule pseudogene 3 CEACAMP3 Yes No Ensembl:ENSG00000239736, GenAtlas:CEACAMP3, GeneCard:CEACAMP3, HGNC:HGNC:1825, NCBI Gene:1092, RefSeq DNA:NG_001098, RefSeq DNA:NT_011109 No chr19 42107611 42107858 41601256 41601503 +PA26370 1093 HGNC:1826 ENSG00000230681 carcinoembryonic antigen-related cell adhesion molecule pseudogene 4 CEACAMP4 Yes No Ensembl:ENSG00000230681, GenAtlas:CEACAMP4, GeneCard:CEACAMP4, HGNC:HGNC:1826, NCBI Gene:1093, RefSeq DNA:NG_001099, RefSeq DNA:NT_011109 No chr19 43807354 43807650 43303202 43303498 +PA26371 1085 HGNC:1827 ENSG00000231561 carcinoembryonic antigen-related cell adhesion molecule pseudogene 5 CEACAMP5 Yes No Ensembl:ENSG00000231561, GenAtlas:CEACAMP5, GeneCard:CEACAMP5, HGNC:HGNC:1827, NCBI Gene:1085, RefSeq DNA:NG_001094, RefSeq DNA:NT_011109 No chr19 43158304 43167169 42654152 42663017 +PA26372 1094 HGNC:1828 ENSG00000238092 carcinoembryonic antigen-related cell adhesion molecule pseudogene 6 CEACAMP6 Yes No Ensembl:ENSG00000238092, GenAtlas:CEACAMP6, GeneCard:CEACAMP6, HGNC:HGNC:1828, NCBI Gene:1094, RefSeq DNA:NG_001100, RefSeq DNA:NT_011109 No chr19 43289863 43290773 42785711 42786621 +PA26373 1095 HGNC:1829 ENSG00000227349 carcinoembryonic antigen-related cell adhesion molecule pseudogene 7 CEACAMP7 Yes No Ensembl:ENSG00000227349, GenAtlas:CEACAMP7, GeneCard:CEACAMP7, HGNC:HGNC:1829, NCBI Gene:1095, RefSeq DNA:NG_001101, RefSeq DNA:NT_011109 No chr19 43453655 43454567 42949503 42950415 +PA26374 1096 HGNC:1830 ENSG00000236932 carcinoembryonic antigen-related cell adhesion molecule pseudogene 8 CEACAMP8 Yes No Ensembl:ENSG00000236932, GenAtlas:CEACAMP8, GeneCard:CEACAMP8, HGNC:HGNC:1830, NCBI Gene:1096, RefSeq DNA:NG_001102, RefSeq DNA:NT_011109 No chr19 43544526 43545426 43040374 43041274 +PA26375 1097 HGNC:1831 ENSG00000230529 carcinoembryonic antigen-related cell adhesion molecule pseudogene 9 CEACAMP9 Yes No Ensembl:ENSG00000230529, GenAtlas:CEACAMP9, GeneCard:CEACAMP9, HGNC:HGNC:1831, NCBI Gene:1097, RefSeq DNA:NG_001103, RefSeq DNA:NT_011109 No chr19 43600601 43601512 43096449 43097360 +PA26376 1050 HGNC:1833 ENSG00000245848 CCAAT enhancer binding protein alpha CEBPA CCAAT/enhancer binding protein (C/EBP), alpha C/EBP-alpha, CEBP Yes No Comparative Toxicogenomics Database:1050, Ensembl:ENSG00000245848, GenAtlas:CEBPA, GeneCard:CEBPA, HGNC:HGNC:1833, ModBase:P49715, NCBI Gene:1050, OMIM:116897, OMIM:601626, RefSeq DNA:NG_012022, RefSeq DNA:NT_011109, RefSeq Protein:NP_004355, RefSeq RNA:NM_004364, UCSC Genome Browser:NM_004364, UniProtKB:P49715 No chr19 33790840 33793430 33299934 33302564 +PA26377 1051 HGNC:1834 ENSG00000172216 CCAAT enhancer binding protein beta CEBPB """CCAAT/enhancer binding protein (C/EBP), beta"", ""interleukin 6-dependent DNA-binding protein"", ""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6""" C/EBP-beta, CRP2, IL6DBP, LAP, NFIL6, TCF5 Yes No Comparative Toxicogenomics Database:1051, Ensembl:ENSG00000172216, GenAtlas:CEBPB, GeneCard:CEBPB, HGNC:HGNC:1834, HumanCyc Gene:HS10472, ModBase:P17676, NCBI Gene:1051, OMIM:189965, RefSeq DNA:NT_011362, RefSeq Protein:NP_005185, RefSeq RNA:NM_005194, UCSC Genome Browser:NM_005194, UniProtKB:P17676 No chr20 48807120 48809227 50190583 50192690 +PA26378 1052 HGNC:1835 ENSG00000221869 CCAAT enhancer binding protein delta CEBPD CCAAT/enhancer binding protein (C/EBP), delta C/EBP-delta, CELF, CRP3, NF-IL6-beta Yes No Comparative Toxicogenomics Database:1052, Ensembl:ENSG00000221869, GenAtlas:CEBPD, GeneCard:CEBPD, HGNC:HGNC:1835, ModBase:P49716, NCBI Gene:1052, OMIM:116898, RefSeq DNA:NT_008183, RefSeq Protein:NP_005186, RefSeq RNA:NM_005195, UCSC Genome Browser:NM_005195, UniProtKB:P49716 No chr8 48649476 48650726 47736914 47738164 +PA26379 1053 HGNC:1836 ENSG00000092067 CCAAT enhancer binding protein epsilon CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon CRP1 Yes No Comparative Toxicogenomics Database:1053, Ensembl:ENSG00000092067, GenAtlas:CEBPE, GeneCard:CEBPE, HGNC:HGNC:1836, HumanCyc Gene:HS01755, ModBase:Q15744, NCBI Gene:1053, OMIM:245480, OMIM:600749, RefSeq DNA:NG_009617, RefSeq DNA:NT_026437, RefSeq Protein:NP_001796, RefSeq RNA:NM_001805, UCSC Genome Browser:NM_001805, UniProtKB:Q15744 No chr14 23586515 23588820 23117306 23119611 +PA26380 1054 HGNC:1837 ENSG00000153879 CCAAT enhancer binding protein gamma CEBPG CCAAT/enhancer binding protein (C/EBP), gamma GPE1BP, IG/EBP-1 Yes No Comparative Toxicogenomics Database:1054, Ensembl:ENSG00000153879, GenAtlas:CEBPG, GeneCard:CEBPG, HGNC:HGNC:1837, HumanCyc Gene:HS07926, ModBase:P53567, NCBI Gene:1054, OMIM:138972, RefSeq DNA:NT_011109, RefSeq Protein:NP_001797, RefSeq RNA:NM_001806, UCSC Genome Browser:NM_001806, UniProtKB:P53567 No chr19 33864575 33873592 33373669 33382686 +PA134977051 10153 HGNC:24218 ENSG00000115816 CCAAT enhancer binding protein zeta CEBPZ """CCAAT-binding transcription factor 2"", ""CCAAT/enhancer binding protein (C/EBP), zeta""" CBF2, CTF2, HSP-CBF Yes No Comparative Toxicogenomics Database:10153, Ensembl:ENSG00000115816, GeneCard:CEBPZ, HGNC:HGNC:24218, HumanCyc Gene:HS03939, NCBI Gene:10153, OMIM:612828, RefSeq DNA:NT_022184, RefSeq Protein:NP_005751, RefSeq RNA:NM_005760, UniProtKB:Q03701 No chr2 37428772 37458740 37201629 37231597 +PA166180589 100505876 HGNC:49288 ENSG00000218739 CEBPZ opposite strand CEBPZOS CEBPZ-AS1 Yes No Ensembl:ENSG00000218739, HGNC:HGNC:49288, NCBI Gene:100505876 No 0 0 0 0 +PA26381 1055 HGNC:1838 cat eye syndrome chromosome region CECR Yes No Comparative Toxicogenomics Database:1055, GenAtlas:CECR, GeneCard:CECR, HGNC:HGNC:1838, NCBI Gene:1055, OMIM:115470 No chr22 +PA26383 27443 HGNC:1840 ENSG00000099954 CECR2 histone acetyl-lysine reader CECR2 """CECR2, histone acetyl-lysine reader"", ""cat eye syndrome chromosome region, candidate 2""" KIAA1740 Yes No Comparative Toxicogenomics Database:27443, Ensembl:ENSG00000099954, GenAtlas:CECR2, GeneCard:CECR2, HGNC:HGNC:1840, HumanCyc Gene:HS01936, ModBase:Q9BXF3, NCBI Gene:27443, OMIM:607576, RefSeq DNA:NT_011519, RefSeq Protein:NP_113601, RefSeq RNA:NM_031413, UCSC Genome Browser:NM_031413, UniProtKB:Q9BXF3 No chr22 17956630 18033845 17359949 17558155 +PA26384 27442 HGNC:1841 ENSG00000241832 cat eye syndrome chromosome region, candidate 3 (non-protein coding) CECR3 Yes No Ensembl:ENSG00000241832, GenAtlas:CECR3, GeneCard:CECR3, HGNC:HGNC:1841, NCBI Gene:27442, RefSeq RNA:NR_038398 No chr22 17737749 17747623 17256859 17266733 +PA26388 100130418 HGNC:1845 ENSG00000237438 cat eye syndrome chromosome region, candidate 7 (non-protein coding) CECR7 SAHL1 Yes No Ensembl:ENSG00000237438, GenAtlas:CECR7, GeneCard:CECR7, HGNC:HGNC:1845, NCBI Gene:100130418, RefSeq DNA:NT_011519, RefSeq RNA:NR_015352 No chr22 17517460 17539682 17036570 17058792 +PA26390 30847 HGNC:1847 ENSG00000231004 cat eye syndrome chromosome region, candidate 9 (non-protein coding) CECR9 Yes No Ensembl:ENSG00000231004, GenAtlas:CECR9, GeneCard:CECR9, HGNC:HGNC:1847, NCBI Gene:30847 No chr22 +PA26391 1056 HGNC:1848 ENSG00000170835 carboxyl ester lipase CEL bile salt-stimulated lipase BSSL, MODY8 Yes No Comparative Toxicogenomics Database:1056, Ensembl:ENSG00000170835, GenAtlas:CEL, GeneCard:CEL, HGNC:HGNC:1848, HumanCyc Gene:HS10190, ModBase:P19835, NCBI Gene:1056, OMIM:114840, OMIM:609812, RefSeq DNA:NG_016394, RefSeq DNA:NT_035014, RefSeq Protein:NP_001798, RefSeq Protein:XP_002346250, RefSeq Protein:XP_002346251, RefSeq RNA:NM_001807, RefSeq RNA:XM_002346209, RefSeq RNA:XM_002346210, UCSC Genome Browser:NM_001807, UniProtKB:P19835 No chr9 135936741 135947250 133061978 133071863 +PA27734 1990 HGNC:3308 ENSG00000139610 chymotrypsin like elastase 1 CELA1 """chymotrypsin like elastase family member 1"", ""chymotrypsin-like elastase family, member 1"", ""fecal elastase-1""" ELA1 Yes No Comparative Toxicogenomics Database:1990, Ensembl:ENSG00000139610, GenAtlas:ELA1, GeneCard:CELA1, GeneCard:ELA1, HGNC:HGNC:3308, HumanCyc Gene:HS06634, ModBase:Q9UNI1, NCBI Gene:1990, OMIM:130120, RefSeq DNA:NT_029419, RefSeq Protein:NP_001962, RefSeq RNA:NM_001971, UCSC Genome Browser:NM_001971, UniProtKB:Q9UNI1 No chr12 51722227 51740463 51328443 51346679 +PA165750794 63036 HGNC:24609 ENSG00000142615 chymotrypsin like elastase 2A CELA2A """chymotrypsin like elastase family member 2A"", ""chymotrypsin-like elastase family, member 2A"", ""elastase 2A""" ELA2A Yes No Ensembl:ENSG00000142615, GeneCard:CELA2A, HGNC:HGNC:24609, HumanCyc Gene:HS06943, NCBI Gene:63036, OMIM:609443, RefSeq DNA:NT_004610, RefSeq Protein:NP_254275, RefSeq RNA:NM_033440, UniProtKB:B2R5I4, UniProtKB:P08217 No chr1 15783223 15798586 15456728 15472091 +PA165750841 51032 HGNC:29995 ENSG00000215704 chymotrypsin like elastase 2B CELA2B """chymotrypsin like elastase family member 2B"", ""chymotrypsin-like elastase family, member 2B"", ""pancreatic elastase IIB""" ELA2B, RP11-265F14.2 Yes No Ensembl:ENSG00000215704, GeneCard:CELA2B, HGNC:HGNC:29995, HumanCyc Gene:HS05704, NCBI Gene:51032, OMIM:609444, RefSeq DNA:NT_004610, RefSeq Protein:NP_056933, RefSeq RNA:NM_015849, UniProtKB:P08218, UniProtKB:Q6ISP9 No chr1 15802596 15817895 15476101 15491400 +PA27736 10136 HGNC:15944 ENSG00000142789 chymotrypsin like elastase 3A CELA3A """chymotrypsin like elastase family member 3A"", ""chymotrypsin-like elastase family, member 3A"", ""protease E""" ELA3, ELA3A Yes No Ensembl:ENSG00000142789, GenAtlas:ELA3A, GeneCard:CELA3A, GeneCard:ELA3A, HGNC:HGNC:15944, HumanCyc Gene:HS06963, ModBase:P09093, NCBI Gene:10136, RefSeq DNA:NT_004610, RefSeq Protein:NP_005738, RefSeq RNA:NM_005747, UCSC Genome Browser:NM_005747, UniProtKB:P09093 No chr1 22328149 22339035 22001656 22012542 +PA27737 23436 HGNC:15945 ENSG00000219073 chymotrypsin like elastase 3B CELA3B """cholesterol-binding pancreatic protease"", ""chymotrypsin like elastase family member 3B"", ""chymotrypsin-like elastase family, member 3B"", ""elastase 1"", ""pancreatic endopeptidase E"", ""proteinase E""" CBPP, ELA3B Yes No Ensembl:ENSG00000219073, GenAtlas:ELA3B, GeneCard:CELA3B, GeneCard:ELA3B, HGNC:HGNC:15945, HumanCyc Gene:HS11406, ModBase:P08861, NCBI Gene:23436, RefSeq DNA:NT_004610, RefSeq Protein:NP_031378, RefSeq RNA:NM_007352, UCSC Genome Browser:NM_007352, UniProtKB:P08861 No chr1 22303418 22315847 21976894 21989354 +PA27045 10658 HGNC:2549 ENSG00000149187 CUGBP Elav-like family member 1 CELF1 """CUG RNA-binding protein"", ""CUGBP, Elav-like family member 1"", ""bruno-like 2"", ""embryo deadenylation element binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD""" BRUNOL2, CUG-BP, CUGBP, CUGBP1, EDEN-BP, NAB50, NAPOR, hNab50 Yes No Comparative Toxicogenomics Database:10658, Ensembl:ENSG00000149187, GenAtlas:CUGBP1, GeneCard:CELF1, GeneCard:CUGBP1, HGNC:HGNC:2549, HumanCyc Gene:HS07592, ModBase:Q92879, NCBI Gene:10658, OMIM:601074, RefSeq DNA:NT_009237, RefSeq Protein:NP_001020767, RefSeq Protein:NP_001166110, RefSeq Protein:NP_001166111, RefSeq Protein:NP_006551, RefSeq Protein:NP_941989, RefSeq RNA:NM_001025596, RefSeq RNA:NM_001172639, RefSeq RNA:NM_001172640, RefSeq RNA:NM_006560, RefSeq RNA:NM_198700, UCSC Genome Browser:NM_006560, UniProtKB:B4E2U5, UniProtKB:Q92879 No chr11 47487489 47574792 47465937 47565569 +PA27046 10659 HGNC:2550 ENSG00000048740 CUGBP Elav-like family member 2 CELF2 CUGBP, Elav-like family member 2 BRUNOL3, CUGBP2, Etr-3, NAPOR-2 Yes No Comparative Toxicogenomics Database:10659, Ensembl:ENSG00000048740, GenAtlas:CUGBP2, GeneCard:CELF2, GeneCard:CUGBP2, HGNC:HGNC:2550, HumanCyc Gene:HS00608, ModBase:O95319, NCBI Gene:10659, OMIM:602538, RefSeq DNA:NT_008705, RefSeq DNA:NT_077569, RefSeq Protein:NP_001020247, RefSeq Protein:NP_001020248, RefSeq Protein:NP_001077060, RefSeq Protein:NP_006552, RefSeq RNA:NM_001025076, RefSeq RNA:NM_001025077, RefSeq RNA:NM_001083591, RefSeq RNA:NM_006561, UCSC Genome Browser:NM_006561, UniProtKB:O95319 No chr10 10838851 11378674 10462515 11336675 +PA134878149 414196 HGNC:23515 ENSG00000181800 CELF2 antisense RNA 1 CELF2-AS1 Em:AC026887.2, FLJ40494 Yes No Ensembl:ENSG00000181800, GeneCard:C10orf31, HGNC:HGNC:23515, NCBI Gene:414196, RefSeq DNA:NT_077569, RefSeq RNA:XR_041926, RefSeq RNA:XR_041927, RefSeq RNA:XR_109007 No chr10 11358796 11361847 11316833 11344674 +PA36654 11189 HGNC:11967 ENSG00000159409 CUGBP Elav-like family member 3 CELF3 """CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"", ""CUGBP, Elav-like family member 3"", ""expanded repeat domain, CAG/CTG 4""" BRUNOL1, CAGH4, ERDA4, MGC57297, TNRC4 Yes No Comparative Toxicogenomics Database:11189, Ensembl:ENSG00000159409, GenAtlas:TNRC4, GeneCard:CELF3, GeneCard:TNRC4, HGNC:HGNC:11967, HumanCyc Gene:HS08401, ModBase:Q5SZQ8, NCBI Gene:11189, OMIM:612678, RefSeq DNA:NT_004487, RefSeq Protein:NP_001166119, RefSeq Protein:NP_001166120, RefSeq Protein:NP_009116, RefSeq RNA:NM_001172648, RefSeq RNA:NM_001172649, RefSeq RNA:NM_007185, UCSC Genome Browser:NM_007185, UniProtKB:Q59G45, UniProtKB:Q5SZQ7, UniProtKB:Q5SZQ8 No chr1 151672534 151689290 151700058 151716821 +PA25428 56853 HGNC:14015 ENSG00000101489 CUGBP Elav-like family member 4 CELF4 CUGBP, Elav-like family member 4 BRUNOL4 Yes Yes Comparative Toxicogenomics Database:56853, Ensembl:ENSG00000101489, GenAtlas:BRUNOL4, GeneCard:BRUNOL4, GeneCard:CELF4, HGNC:HGNC:14015, HumanCyc Gene:HS02284, ModBase:Q9BZC1, NCBI Gene:56853, OMIM:612679, RefSeq DNA:NT_010966, RefSeq Protein:NP_001020258, RefSeq Protein:NP_001020259, RefSeq Protein:NP_001020260, RefSeq Protein:NP_064565, RefSeq RNA:NM_001025087, RefSeq RNA:NM_001025088, RefSeq RNA:NM_001025089, RefSeq RNA:NM_020180, UCSC Genome Browser:NM_020180, UniProtKB:Q9BZC1 No chr18 34823003 35146000 37243040 37566052 +PA25429 60680 HGNC:14058 ENSG00000161082 CUGBP Elav-like family member 5 CELF5 CUGBP, Elav-like family member 5 BRUNOL5 Yes No Ensembl:ENSG00000161082, GenAtlas:BRUNOL5, GeneCard:BRUNOL5, GeneCard:CELF5, HGNC:HGNC:14058, HumanCyc Gene:HS08570, ModBase:Q8N6W0, NCBI Gene:60680, OMIM:612680, RefSeq DNA:NT_011255, RefSeq Protein:NP_001139469, RefSeq Protein:NP_001166144, RefSeq Protein:NP_068757, RefSeq RNA:NM_001145997, RefSeq RNA:NM_001172673, RefSeq RNA:NM_021938, RefSeq RNA:NR_033342, UCSC Genome Browser:NM_021938, UniProtKB:Q8N6W0 No chr19 3224701 3297074 3224676 3297076 +PA25430 60677 HGNC:14059 ENSG00000140488 CUGBP Elav-like family member 6 CELF6 CUGBP, Elav-like family member 6 BRUNOL6 Yes No Ensembl:ENSG00000140488, GenAtlas:BRUNOL6, GeneCard:BRUNOL6, GeneCard:CELF6, HGNC:HGNC:14059, HumanCyc Gene:HS06725, ModBase:Q96J87, NCBI Gene:60677, OMIM:612681, RefSeq DNA:NT_010194, RefSeq Protein:NP_001166155, RefSeq Protein:NP_001166156, RefSeq Protein:NP_443072, RefSeq RNA:NM_001172684, RefSeq RNA:NM_001172685, RefSeq RNA:NM_052840, UCSC Genome Browser:NM_052840, UniProtKB:B4DG28, UniProtKB:B4DJB6, UniProtKB:Q96J87 No chr15 72577068 72612525 72284727 72320184 +PA26392 1057 HGNC:1849 ENSG00000170827 carboxyl ester lipase pseudogene CELP Yes No Ensembl:ENSG00000170827, GeneCard:CELP, HGNC:HGNC:1849, NCBI Gene:1057, RefSeq DNA:NT_035014, RefSeq RNA:NR_001275, UCSC Genome Browser:NM_001808 No chr9 135957926 135962478 133082539 133087091 +PA26393 9620 HGNC:1850 ENSG00000075275 cadherin EGF LAG seven-pass G-type receptor 1 CELSR1 """adhesion G protein-coupled receptor C1"", ""cadherin, EGF LAG seven-pass G-type receptor 1"", ""flamingo homolog 2 (Drosophila)""" ADGRC1, CDHF9, FMI2, HFMI2, ME2 Yes No Comparative Toxicogenomics Database:9620, Ensembl:ENSG00000075275, GenAtlas:CELSR1, GeneCard:CELSR1, HGNC:HGNC:1850, HumanCyc Gene:HS01168, IUPHAR Receptor:178, ModBase:Q9NYQ6, NCBI Gene:9620, OMIM:604523, RefSeq DNA:NT_011520, RefSeq Protein:NP_055061, RefSeq RNA:NM_014246, UCSC Genome Browser:NM_014246, UniProtKB:Q9NYQ6 No chr22 46756731 46933067 46360834 46537502 +PA26394 1952 HGNC:3231 ENSG00000143126 cadherin EGF LAG seven-pass G-type receptor 2 CELSR2 """adhesion G protein-coupled receptor C2"", ""cadherin, EGF LAG seven-pass G-type receptor 2"", ""multiple EGF like domains 3""" ADGRC2, CDHF10, EGFL2, Flamingo1, KIAA0279, MEGF3 Yes Yes Ensembl:ENSG00000143126, GenAtlas:CELSR2, GeneCard:CELSR2, HGNC:HGNC:3231, HumanCyc Gene:HS06987, IUPHAR Receptor:179, ModBase:Q9HCU4, NCBI Gene:1952, OMIM:604265, RefSeq DNA:NT_032977, RefSeq Protein:NP_001399, RefSeq RNA:NM_001408, UCSC Genome Browser:NM_001408, UniProtKB:Q9HCU4 No chr1 109792641 109818378 109249705 109275756 +PA26395 1951 HGNC:3230 ENSG00000008300 cadherin EGF LAG seven-pass G-type receptor 3 CELSR3 """adhesion G protein-coupled receptor C3"", ""cadherin, EGF LAG seven-pass G-type receptor 3"", ""flamingo homolog 1 (Drosophila)"", ""multiple EGF like domains 2""" ADGRC3, CDHF11, EGFL1, FMI1, HFMI1, MEGF2 Yes No Comparative Toxicogenomics Database:1951, Ensembl:ENSG00000008300, GenAtlas:CELSR3, GeneCard:CELSR3, HGNC:HGNC:3230, HumanCyc Gene:HS00243, IUPHAR Receptor:180, ModBase:Q9NYQ7, NCBI Gene:1951, OMIM:604264, RefSeq DNA:NT_022517, RefSeq Protein:NP_001398, RefSeq RNA:NM_001407, UCSC Genome Browser:NM_001407, UniProtKB:Q9NYQ7 No chr3 48673896 48700348 48636463 48662915 +PA134967531 57214 HGNC:29213 ENSG00000103888 cell migration inducing hyaluronidase 1 CEMIP """cell migration inducing protein, hyaluronan binding"", ""hyaluronan-binding protein involved in hyaluronan depolymerization""" CEMIP1, HYBID, IR2155535, KIAA1199, TMEM2L Yes No Comparative Toxicogenomics Database:57214, Ensembl:ENSG00000103888, GeneCard:KIAA1199, HGNC:HGNC:29213, ModBase:Q8WUJ3, NCBI Gene:57214, OMIM:608366, RefSeq DNA:NT_010194, RefSeq Protein:NP_061159, RefSeq RNA:NM_018689, UniProtKB:Q8WUJ3 No chr15 81071712 81244112 80779343 80951662 +PA36570 23670 HGNC:11869 ENSG00000135048 cell migration inducing hyaluronidase 2 CEMIP2 transmembrane protein 2 TMEM2 Yes No Comparative Toxicogenomics Database:23670, Ensembl:ENSG00000135048, GenAtlas:TMEM2, GeneCard:TMEM2, HGNC:HGNC:11869, HumanCyc Gene:HS05943, ModBase:Q9UHN6, NCBI Gene:23670, OMIM:605835, RefSeq DNA:NT_008470, RefSeq Protein:NP_001129292, RefSeq Protein:NP_037522, RefSeq RNA:NM_001135820, RefSeq RNA:NM_013390, UCSC Genome Browser:NM_013390, UniProtKB:B2RTQ6, UniProtKB:Q9UHN6 No chr9 74298282 74384373 71683366 71769532 +PA162382169 752014 HGNC:32553 ENSG00000205923 cementum protein 1 CEMP1 cementum protein-23 CP-23 Yes No Ensembl:ENSG00000205923, GeneCard:CEMP1, HGNC:HGNC:32553, NCBI Gene:752014, OMIM:611113, RefSeq DNA:NT_010393, RefSeq Protein:NP_001041677, RefSeq RNA:NM_001048212, UniProtKB:Q6PRD7 No chr16 2580036 2581409 2530035 2531408 +PA166352389 338657 HGNC:30460 centrosomal AT-AC splicing factor CENATAC CCDC84 DLNB14 Yes No HGNC:HGNC:30460, NCBI Gene:338657 No 0 0 0 0 +PA145149163 51286 HGNC:24153 ENSG00000184524 cell cycle exit and neuronal differentiation 1 CEND1 BM88, FLJ90066 Yes No Ensembl:ENSG00000184524, GeneCard:CEND1, HGNC:HGNC:24153, ModBase:Q8N111, NCBI Gene:51286, OMIM:608213, RefSeq DNA:NT_009237, RefSeq Protein:NP_057648, RefSeq RNA:NM_016564, UniProtKB:Q8N111 No chr11 787110 790126 787110 790126 +PA26396 1058 HGNC:1851 ENSG00000115163 centromere protein A CENPA centromere-specific histone, histone H3-like centromeric protein A CENP-A, CenH3 Yes No Comparative Toxicogenomics Database:1058, Ensembl:ENSG00000115163, GenAtlas:CENPA, GeneCard:CENPA, HGNC:HGNC:1851, HumanCyc Gene:HS03842, ModBase:P49450, NCBI Gene:1058, OMIM:117139, RefSeq DNA:NT_022184, RefSeq Protein:NP_001035891, RefSeq Protein:NP_001800, RefSeq RNA:NM_001042426, RefSeq RNA:NM_001809, UCSC Genome Browser:NM_001809, UniProtKB:P49450 No chr2 27008857 27023935 26786014 26794589 +PA26397 1059 HGNC:1852 ENSG00000125817 centromere protein B CENPB centromere protein B, 80kDa Yes No Ensembl:ENSG00000125817, GenAtlas:CENPB, GeneCard:CENPB, HGNC:HGNC:1852, HumanCyc Gene:HS04941, ModBase:P07199, NCBI Gene:1059, OMIM:117140, RefSeq DNA:NT_011387, RefSeq Protein:NP_001801, RefSeq RNA:NM_001810, UCSC Genome Browser:NM_001810, UniProtKB:P07199 No chr20 3764498 3767337 3783851 3786690 +PA26398 1060 HGNC:1854 ENSG00000145241 centromere protein C CENPC centromere protein C 1 CENP-C, CENPC, CENPC1, MIF2, hcp-4 Yes No Comparative Toxicogenomics Database:1060, Ensembl:ENSG00000145241, GenAtlas:CENPC1, GeneCard:CENPC1, HGNC:HGNC:1854, HumanCyc Gene:HS07236, ModBase:Q03188, NCBI Gene:1060, OMIM:117141, RefSeq DNA:NT_022778, RefSeq Protein:NP_001803, RefSeq RNA:NM_001812, UCSC Genome Browser:NM_001812, UniProtKB:Q03188, UniProtKB:Q6PIR0 No chr4 68337989 68411256 67468762 67545601 +PA26400 1062 HGNC:1856 ENSG00000138778 centromere protein E CENPE """centromere protein E, 312kDa"", ""protein phosphatase 1, regulatory subunit 61""" KIF10, PPP1R61 Yes No Comparative Toxicogenomics Database:1062, Ensembl:ENSG00000138778, GenAtlas:CENPE, GeneCard:CENPE, HGNC:HGNC:1856, HumanCyc Gene:HS06558, ModBase:Q02224, NCBI Gene:1062, OMIM:117143, RefSeq DNA:NT_016354, RefSeq Protein:NP_001804, RefSeq RNA:NM_001813, UCSC Genome Browser:NM_001813, UniProtKB:Q02224 No chr4 104026963 104119566 103105806 103198409 +PA26401 1063 HGNC:1857 ENSG00000117724 centromere protein F CENPF """centromere protein F, 350/400kDa"", ""mitosin""" hcp-1 Yes No Comparative Toxicogenomics Database:1063, Ensembl:ENSG00000117724, GenAtlas:CENPF, GeneCard:CENPF, HGNC:HGNC:1857, HumanCyc Gene:HS04170, NCBI Gene:1063, OMIM:600236, RefSeq DNA:NT_167186, RefSeq Protein:NP_057427, RefSeq RNA:NM_016343, UCSC Genome Browser:NM_016343, UniProtKB:P49454 No chr1 214776522 214837914 214603181 214664574 +PA26402 64946 HGNC:17268 ENSG00000153044 centromere protein H CENPH NNF1, MIND kinetochore complex component, homolog (S. cerevisiae) NNF1, PMF1 Yes No Ensembl:ENSG00000153044, GenAtlas:CENPH, GeneCard:CENPH, HGNC:HGNC:17268, HumanCyc Gene:HS07875, ModBase:Q9H3R5, NCBI Gene:64946, OMIM:605607, RefSeq DNA:NT_006713, RefSeq Protein:NP_075060, RefSeq RNA:NM_022909, UCSC Genome Browser:NM_022909, UniProtKB:Q9H3R5 No chr5 68485375 68506184 69189548 69210357 +PA28385 2491 HGNC:3968 ENSG00000102384 centromere protein I CENPI CENP-I, FSHPRH1, LRPR1, Mis6 Yes No Comparative Toxicogenomics Database:2491, Ensembl:ENSG00000102384, GenAtlas:CENPI, GeneCard:CENPI, HGNC:HGNC:3968, HumanCyc Gene:HS02387, ModBase:Q92674, NCBI Gene:2491, OMIM:300065, RefSeq DNA:NG_012510, RefSeq DNA:NT_011651, RefSeq Protein:NP_006724, RefSeq RNA:NM_006733, UCSC Genome Browser:NM_006733, UniProtKB:Q92674 No chrX 100353178 100418667 101098159 101181847 +PA26403 55835 HGNC:17272 ENSG00000151849 centromere protein J CENPJ LAG-3-associated protein, Seckel syndrome 4, Spindle assembly abnormal 4, centrosomal P4.1-associated protein BM032, CPAP, LAP, LIP1, MCPH6, SASS4, SCKL4, Sas-4 Yes No Comparative Toxicogenomics Database:55835, Ensembl:ENSG00000151849, GenAtlas:CENPJ, GeneCard:CENPJ, HGNC:HGNC:17272, HumanCyc Gene:HS07775, ModBase:Q9HC77, NCBI Gene:55835, OMIM:608393, OMIM:609279, RefSeq DNA:NG_009165, RefSeq DNA:NT_024524, RefSeq Protein:NP_060921, RefSeq RNA:NM_018451, UCSC Genome Browser:NM_018451, UniProtKB:Q9HC77 No chr13 25456412 25497027 24882274 24922889 +PA145149171 64105 HGNC:29479 ENSG00000123219 centromere protein K CENPK CENP-K, FKSG14, SOLT Yes No Comparative Toxicogenomics Database:64105, Ensembl:ENSG00000123219, GeneCard:CENPK, HGNC:HGNC:29479, HumanCyc Gene:HS13083, ModBase:Q9BS16, NCBI Gene:64105, OMIM:611502, RefSeq DNA:NT_006713, RefSeq Protein:NP_071428, RefSeq RNA:NM_022145, UniProtKB:Q9BS16 No chr5 64813593 64858995 65488919 65563194 +PA142672406 91687 HGNC:17879 ENSG00000120334 centromere protein L CENPL C1orf155, FLJ31044, dJ383J4.3 Yes No Comparative Toxicogenomics Database:91687, Ensembl:ENSG00000120334, GeneCard:CENPL, HGNC:HGNC:17879, ModBase:Q8N0S6, NCBI Gene:91687, OMIM:611503, RefSeq DNA:NT_004487, RefSeq Protein:NP_001120653, RefSeq Protein:NP_001164653, RefSeq Protein:NP_201576, RefSeq RNA:NM_001127181, RefSeq RNA:NM_001171182, RefSeq RNA:NM_033319, UniProtKB:Q8N0S6 No chr1 173768688 173794325 173799550 173824639 +PA25885 79019 HGNC:18352 ENSG00000100162 centromere protein M CENPM C22orf18, CENP-M, MGC861, Pane1 Yes Yes Comparative Toxicogenomics Database:79019, Ensembl:ENSG00000100162, GenAtlas:CENPM, GeneCard:CENPM, HGNC:HGNC:18352, HumanCyc Gene:HS12393, ModBase:Q9NSP4, NCBI Gene:79019, OMIM:610152, RefSeq DNA:NT_011520, RefSeq Protein:NP_001002876, RefSeq Protein:NP_001103685, RefSeq Protein:NP_076958, RefSeq RNA:NM_001002876, RefSeq RNA:NM_001110215, RefSeq RNA:NM_024053, UCSC Genome Browser:NM_024053, UniProtKB:B1AHQ9, UniProtKB:Q9NSP4 No chr22 42334531 42343155 41927747 41947164 +PA143485397 55839 HGNC:30873 ENSG00000166451 centromere protein N CENPN BM039, C16orf60, FLJ13607, FLJ22660 Yes No Comparative Toxicogenomics Database:55839, Ensembl:ENSG00000166451, GeneCard:CENPN, HGNC:HGNC:30873, HumanCyc Gene:HS15447, NCBI Gene:55839, OMIM:611509, RefSeq DNA:NT_010498, RefSeq Protein:NP_001094094, RefSeq Protein:NP_001094095, RefSeq Protein:NP_060925, RefSeq RNA:NM_001100624, RefSeq RNA:NM_001100625, RefSeq RNA:NM_018455, UniProtKB:Q96H22 No chr16 81040103 81066712 81006498 81033107 +PA145149197 79172 HGNC:28152 ENSG00000138092 centromere protein O CENPO CENP-O, MGC11266 Yes No Ensembl:ENSG00000138092, GeneCard:CENPO, HGNC:HGNC:28152, HumanCyc Gene:HS13711, ModBase:Q9BU64, NCBI Gene:79172, OMIM:611504, RefSeq DNA:NT_022184, RefSeq Protein:NP_001186732, RefSeq Protein:NP_077298, RefSeq RNA:NM_001199803, RefSeq RNA:NM_024322, UniProtKB:Q9BU64 No chr2 25016175 25045245 24793115 24822376 +PA145149143 401541 HGNC:32933 ENSG00000188312 centromere protein P CENPP CENP-P, RP11-19J3.3 Yes No Ensembl:ENSG00000188312, GeneCard:CENPP, HGNC:HGNC:32933, ModBase:Q6IPU0, NCBI Gene:401541, OMIM:611505, RefSeq DNA:NT_008470, RefSeq Protein:NP_001012267, RefSeq RNA:NM_001012267, UniProtKB:B3KRA5, UniProtKB:Q6IPU0, UniProtKB:Q7Z672 No chr9 95087741 95377446 92325457 92615164 +PA134973276 55166 HGNC:21347 ENSG00000031691 centromere protein Q CENPQ C6orf139, CENP-Q, FLJ10545 Yes No Comparative Toxicogenomics Database:55166, Ensembl:ENSG00000031691, GeneCard:CENPQ, HGNC:HGNC:21347, HumanCyc Gene:HS12079, ModBase:Q7L2Z9, NCBI Gene:55166, OMIM:611506, RefSeq DNA:NT_007592, RefSeq Protein:NP_060602, RefSeq RNA:NM_018132, UniProtKB:Q7L2Z9 No chr6 49431054 49460820 49463327 49493107 +PA134861614 378708 HGNC:23163 ENSG00000175279 centromere protein S CENPS """apoptosis-inducing, TAF9-like domain 1"", ""centromere protein S""" APITD1, CENP-S, CENPS, FAAP16, MHF1 Yes No Comparative Toxicogenomics Database:378708, Ensembl:ENSG00000175279, GeneCard:APITD1, HGNC:HGNC:23163, ModBase:Q8N2Z9, NCBI Gene:378708, OMIM:609130, RefSeq DNA:NT_021937, RefSeq Protein:NP_940946, RefSeq Protein:NP_950171, RefSeq Protein:NP_954988, RefSeq Protein:NP_954992, RefSeq RNA:NM_198544, RefSeq RNA:NM_199006, RefSeq RNA:NM_199294, RefSeq RNA:NM_199295, RefSeq RNA:NR_036462, UniProtKB:A6NIJ4, UniProtKB:Q8N2Z9 No chr1 10489944 10510239 10430102 10442815 +PA142672263 80152 HGNC:25787 ENSG00000102901 centromere protein T CENPT C16orf56, CENP-T, FLJ13111 Yes No Ensembl:ENSG00000102901, GeneCard:CENPT, HGNC:HGNC:25787, HumanCyc Gene:HS02426, ModBase:Q96BT3, NCBI Gene:80152, OMIM:611510, RefSeq DNA:NT_010498, RefSeq Protein:NP_079358, RefSeq RNA:NM_025082, UniProtKB:B3KPB2, UniProtKB:Q96BT3 No chr16 67862060 67881361 67828157 67847458 +PA134893791 79682 HGNC:21348 ENSG00000151725 centromere protein U CENPU MLF1 interacting protein, centromere protein U, polo-box-interacting protein 1 CENP-50, CENP-U, CENPU, KLIP1, MLF1IP, PBIP1 Yes No Comparative Toxicogenomics Database:79682, Ensembl:ENSG00000151725, GeneCard:MLF1IP, HGNC:HGNC:21348, HumanCyc Gene:HS14385, ModBase:Q71F23, NCBI Gene:79682, OMIM:611511, RefSeq DNA:NT_016354, RefSeq Protein:NP_078905, RefSeq RNA:NM_024629, UniProtKB:Q71F23 No chr4 185615219 185655286 184694065 184734132 +PA164717842 201161 HGNC:29920 ENSG00000166582 centromere protein V CENPV CENP-V, PRR6, p30 Yes No Ensembl:ENSG00000166582, GeneCard:CENPV, HGNC:HGNC:29920, NCBI Gene:201161, OMIM:608139, RefSeq DNA:NT_010718, RefSeq Protein:NP_859067, RefSeq RNA:NM_181716, UniProtKB:Q7Z7K6 No chr17 16245831 16256812 16342534 16353498 +PA166180590 389857 HGNC:31851 ENSG00000223591 centromere protein V like 1 CENPVL1 proline rich 6-like 1 CENPVP1, PRR6L1 Yes No Ensembl:ENSG00000223591, HGNC:HGNC:31851, NCBI Gene:389857 No 0 0 0 0 +PA166182667 441495 HGNC:43879 ENSG00000283093 centromere protein V like 2 CENPVL2 CENPVP2 Yes No Ensembl:ENSG00000283093, HGNC:HGNC:43879, NCBI Gene:441495 No 0 0 0 0 +PA166180591 347549 HGNC:43880 ENSG00000224109 centromere protein V like 3 CENPVL3 CENPVP3 Yes No Ensembl:ENSG00000224109, HGNC:HGNC:43880, NCBI Gene:347549 No 0 0 0 0 +PA165617841 387103 HGNC:21488 ENSG00000203760 centromere protein W CENPW cancer-upregulated gene 2 C6orf173, CUG2 Yes No Ensembl:ENSG00000203760, GeneCard:CENPW, HGNC:HGNC:21488, ModBase:Q5EE01, NCBI Gene:387103, OMIM:611264, RefSeq DNA:NT_025741, RefSeq Protein:NP_001012525, RefSeq RNA:NM_001012507, UniProtKB:Q5EE01 No chr6 126660660 126670548 126339696 126483320 +PA36223 201254 HGNC:11422 ENSG00000169689 centromere protein X CENPX stimulated by retinoic acid 13 CENP-X, FAAP10, MGC14480, MHF2, STRA13 Yes No Comparative Toxicogenomics Database:201254, Ensembl:ENSG00000169689, GenAtlas:STRA13, GeneCard:STRA13, HGNC:HGNC:11422, NCBI Gene:201254, RefSeq DNA:NT_010663, RefSeq Protein:NP_659435, RefSeq RNA:NM_144998, UCSC Genome Browser:NM_144998, UniProtKB:A8MT69 No chr17 79976579 79980786 82018703 82022930 +PA144596418 9731 HGNC:24866 ENSG00000116198 centrosomal protein 104 CEP104 """centrosomal protein 104kDa"", ""glycine, glutamate, thienylcyclohexylpiperidine binding protein""" CFAP256, GlyBP, JBTS25, KIAA0562, ROC22, RP1-286D6.4 Yes No Comparative Toxicogenomics Database:9731, Ensembl:ENSG00000116198, GeneCard:KIAA0562, HGNC:HGNC:24866, HumanCyc Gene:HS12860, ModBase:O60308, NCBI Gene:9731, RefSeq DNA:NT_004350, RefSeq Protein:NP_055519, RefSeq RNA:NM_014704, UniProtKB:O60308 No chr1 3728645 3773797 3812081 3857387 +PA142672163 201134 HGNC:28514 ENSG00000154240 centrosomal protein 112 CEP112 centrosomal protein 112kDa CCDC46, MGC33887 Yes No Ensembl:ENSG00000154240, GeneCard:CCDC46, HGNC:HGNC:28514, HumanCyc Gene:HS14514, ModBase:Q8N8E3, NCBI Gene:201134, RefSeq DNA:NT_010783, RefSeq Protein:NP_001032402, RefSeq Protein:NP_001186094, RefSeq Protein:NP_659473, RefSeq RNA:NM_001037325, RefSeq RNA:NM_001199165, RefSeq RNA:NM_145036, UniProtKB:Q8N8E3 No chr17 63631658 64188212 65635540 66192131 +PA164717857 153241 HGNC:26690 ENSG00000168944 centrosomal protein 120 CEP120 centrosomal protein 120kDa CCDC100, FLJ36090 Yes No Ensembl:ENSG00000168944, GeneCard:CEP120, HGNC:HGNC:26690, HumanCyc Gene:HS15732, NCBI Gene:153241, OMIM:613446, RefSeq DNA:NT_034772, RefSeq Protein:NP_001159698, RefSeq Protein:NP_694955, RefSeq RNA:NM_001166226, RefSeq RNA:NM_153223, UniProtKB:B4DLH5, UniProtKB:Q8N960 No chr5 122680579 122759286 123344885 123423592 +PA143485517 57562 HGNC:29264 ENSG00000110318 centrosomal protein 126 CEP126 KIAA1377 Yes No Ensembl:ENSG00000110318, GeneCard:KIAA1377, HGNC:HGNC:29264, NCBI Gene:57562, RefSeq DNA:NT_033899, RefSeq Protein:NP_065853, RefSeq RNA:NM_020802, UniProtKB:Q9P2H0 No chr11 101785746 101871793 101915015 102001065 +PA142672283 145508 HGNC:20359 ENSG00000100629 centrosomal protein 128 CEP128 centrosomal protein 128kDa C14orf145, C14orf61 Yes No Ensembl:ENSG00000100629, GeneCard:C14orf145, HGNC:HGNC:20359, ModBase:Q6ZU80, NCBI Gene:145508, RefSeq DNA:NT_026437, RefSeq Protein:NP_689659, RefSeq RNA:NM_152446, UniProtKB:Q6ZU80, UniProtKB:Q86TS1 No chr14 80962821 81408105 80478321 80959501 +PA134920867 22994 HGNC:29511 ENSG00000141577 centrosomal protein 131 CEP131 5-azacytidine induced 1, centrosomal protein 131kDa AZ1, AZI1, CEP131, KIAA1118 Yes No Comparative Toxicogenomics Database:22994, Ensembl:ENSG00000141577, GeneCard:AZI1, HGNC:HGNC:29511, ModBase:Q9UPN4, NCBI Gene:22994, OMIM:613479, RefSeq DNA:NT_010783, RefSeq Protein:NP_001009811, RefSeq Protein:NP_055799, RefSeq RNA:NM_001009811, RefSeq RNA:NM_014984, UniProtKB:A6NHI8 No chr17 79163393 79196793 81189593 81222989 +PA128394551 9662 HGNC:29086 ENSG00000174799 centrosomal protein 135 CEP135 centrosomal protein 135kDa CEP4, FLJ13621, KIAA0635 Yes No Ensembl:ENSG00000174799, GeneCard:CEP135, HGNC:HGNC:29086, ModBase:Q66GS9, NCBI Gene:9662, OMIM:611423, RefSeq DNA:NT_022853, RefSeq Protein:NP_079285, RefSeq RNA:NM_025009, UCSC Genome Browser:NM_014645, UniProtKB:Q66GS9 No chr4 56814974 56899529 55948808 56033363 +PA134883066 57415 HGNC:25024 ENSG00000114405 centrosomal protein 15 CEP15 chromosome 3 open reading frame 14 C3orf14, HT021 Yes No Ensembl:ENSG00000114405, GeneCard:C3orf14, HGNC:HGNC:25024, HumanCyc Gene:HS12816, NCBI Gene:57415, RefSeq DNA:NT_022517, RefSeq Protein:NP_065736, RefSeq RNA:NM_020685, UniProtKB:Q9HBI5 No chr3 62304648 62321888 62318973 62336213 +PA142672126 22995 HGNC:29298 ENSG00000103995 centrosomal protein 152 CEP152 asterless, centrosomal protein 152kDa KIAA0912, MCPH4, MCPH9, SCKL5 Yes No Ensembl:ENSG00000103995, GeneCard:CEP152, HGNC:HGNC:29298, ModBase:O94986, NCBI Gene:22995, RefSeq DNA:NT_010194, RefSeq Protein:NP_001181927, RefSeq Protein:NP_055800, RefSeq RNA:NM_001194998, RefSeq RNA:NM_014985, UniProtKB:O94986 No chr15 49030135 49104092 48662534 48811901 +PA134972331 22832 HGNC:21107 ENSG00000135315 centrosomal protein 162 CEP162 centrosomal protein 162kDa C6orf84, KIAA1009, QN1 Yes No Comparative Toxicogenomics Database:22832, Ensembl:ENSG00000135315, GeneCard:KIAA1009, HGNC:HGNC:21107, HumanCyc Gene:HS13573, ModBase:Q5TB80, NCBI Gene:22832, OMIM:610201, RefSeq DNA:NT_007299, RefSeq Protein:NP_055710, RefSeq RNA:NM_014895, UniProtKB:Q5TB80 No chr6 84833960 84937386 84124241 84227889 +PA142672127 22897 HGNC:29182 ENSG00000110274 centrosomal protein 164 CEP164 centrosomal protein 164kDa KIAA1052, NPHP15 Yes No Comparative Toxicogenomics Database:22897, Ensembl:ENSG00000110274, GeneCard:CEP164, HGNC:HGNC:29182, HumanCyc Gene:HS12719, ModBase:Q9UPV0, NCBI Gene:22897, RefSeq DNA:NT_033899, RefSeq Protein:NP_055771, RefSeq RNA:NM_014956, UniProtKB:Q9UPV0 No chr11 117184792 117283982 117316346 117413266 +PA128395757 9859 HGNC:28920 ENSG00000143702 centrosomal protein 170 CEP170 KARP 1 binding protein, XRCC5 binding protein, centrosomal protein 170kDa FAM68A, KAB, KIAA0470 Yes No Comparative Toxicogenomics Database:9859, Ensembl:ENSG00000143702, GeneCard:CEP170, HGNC:HGNC:28920, HumanCyc Gene:HS13981, ModBase:Q5SW79, NCBI Gene:9859, OMIM:613023, RefSeq DNA:NT_167186, RefSeq Protein:NP_001035863, RefSeq Protein:NP_001035864, RefSeq Protein:NP_055627, RefSeq RNA:NM_001042404, RefSeq RNA:NM_001042405, RefSeq RNA:NM_014812, UCSC Genome Browser:NM_014812, UniProtKB:Q5SW79 No chr1 243287730 243419284 243124428 243255936 +PA134863153 283638 HGNC:20362 ENSG00000099814 centrosomal protein 170B CEP170B Cep170-related Cep170R, FAM68C, KIAA0284 Yes No Ensembl:ENSG00000099814, GeneCard:KIAA0284, HGNC:HGNC:20362, NCBI Gene:283638, RefSeq DNA:NT_026437, RefSeq Protein:NP_001106197, RefSeq Protein:NP_055820, RefSeq RNA:NM_001112726, RefSeq RNA:NM_015005, UniProtKB:Q9Y4F5 No chr14 105331650 105363107 104865313 104896770 +PA142672128 645455 HGNC:28364 ENSG00000154608 centrosomal protein 170kDa pseudogene 1 CEP170P1 FAM68B, MGC26143 Yes No Ensembl:ENSG00000154608, GeneCard:CEP170P1, HGNC:HGNC:28364, NCBI Gene:645455, RefSeq DNA:NT_016354, RefSeq RNA:NR_003135 No chr4 119437495 119475359 118516340 118554204 +PA142672395 84984 HGNC:28209 ENSG00000174007 centrosomal protein 19 CEP19 centrosomal protein 19kDa C3orf34, MGC14126 Yes No Ensembl:ENSG00000174007, GeneCard:C3orf34, HGNC:HGNC:28209, HumanCyc Gene:HS16284, NCBI Gene:84984, RefSeq DNA:NT_029928, RefSeq Protein:NP_116287, RefSeq RNA:NM_032898, UniProtKB:Q96LK0 No chr3 196433144 196439131 196706273 196712294 +PA142672129 55125 HGNC:25515 ENSG00000101639 centrosomal protein 192 CEP192 """centrosomal protein 192kDa"", ""protein phosphatase 1, regulatory subunit 62""" FLJ10352, KIAA1569, PPP1R62 Yes No Comparative Toxicogenomics Database:55125, Ensembl:ENSG00000101639, GeneCard:CEP192, HGNC:HGNC:25515, HumanCyc Gene:HS12460, ModBase:Q8TEP8, NCBI Gene:55125, RefSeq DNA:NT_010859, RefSeq Protein:NP_115518, RefSeq RNA:NM_032142, UniProtKB:B7ZMF0, UniProtKB:Q9HCK3 No chr18 12991352 13125052 12991307 13125053 +PA166352390 123811 HGNC:26435 centrosomal protein 20 CEP20 C16orf63, FOP-related protein of 20 kDa, FOPNL, pluripotent embryonic stem cell-related protein DKFZp686N1651, FLJ31153, FOR20, PHSECRG2 Yes No HGNC:HGNC:26435, NCBI Gene:123811 No 0 0 0 0 +PA26415 11190 HGNC:1859 ENSG00000126001 centrosomal protein 250 CEP250 centrosomal protein 250kDa C-NAP1, CEP2 Yes No Ensembl:ENSG00000126001, GenAtlas:CEP250, GeneCard:CEP250, HGNC:HGNC:1859, HumanCyc Gene:HS04986, ModBase:Q9BV73, NCBI Gene:11190, OMIM:609689, RefSeq DNA:NT_011362, RefSeq Protein:NP_001030595, RefSeq Protein:NP_009117, RefSeq RNA:NM_001035518, RefSeq RNA:NM_007186, UCSC Genome Browser:NM_007186, UniProtKB:Q9BV73 No chr20 34042988 34105360 35455138 35517531 +PA143485433 80184 HGNC:29021 ENSG00000198707 centrosomal protein 290 CEP290 """Bardet-Biedl syndrome 14"", ""Joubert syndrome 5"", ""Meckel syndrome, type 4"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""cancer/testis antigen 87"", ""centrosomal protein 290kDa"", ""nephrocystin-6""" 3H11Ag, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16 Yes No Comparative Toxicogenomics Database:80184, Ensembl:ENSG00000198707, GeneCard:CEP290, HGNC:HGNC:29021, ModBase:O15078, NCBI Gene:80184, OMIM:209900, OMIM:610142, OMIM:610188, OMIM:610189, OMIM:611134, OMIM:611755, RefSeq DNA:NG_008417, RefSeq DNA:NT_029419, RefSeq Protein:NP_079390, RefSeq RNA:NM_025114, UniProtKB:O15078, UniProtKB:Q05BJ6 No chr12 88442790 88535993 88049013 88142216 +PA142671597 85459 HGNC:29366 ENSG00000166004 centrosomal protein 295 CEP295 centrosomal protein 295kDa KIAA1731 Yes No Ensembl:ENSG00000166004, GeneCard:KIAA1731, HGNC:HGNC:29366, NCBI Gene:85459, RefSeq DNA:NT_167190, RefSeq Protein:NP_203753, RefSeq RNA:NM_033395, UniProtKB:Q9C0D2 No chr11 93394816 93463524 93661650 93730381 +PA166123697 100653515 HGNC:44659 ENSG00000178404 CEP295 N-terminal like CEP295NL KIAA1731 N-terminal like DDC8, KIAA1731NL Yes No Ensembl:ENSG00000178404, HGNC:HGNC:44659, NCBI Gene:100653515 No +PA143485434 9857 HGNC:24238 ENSG00000135837 centrosomal protein 350 CEP350 centrosomal protein 350kDa, centrosome associated protein 350 CAP350, KIAA0480 Yes No Comparative Toxicogenomics Database:9857, Ensembl:ENSG00000135837, GeneCard:CEP350, HGNC:HGNC:24238, HumanCyc Gene:HS13594, ModBase:Q5VT06, NCBI Gene:9857, RefSeq DNA:NT_004487, RefSeq Protein:NP_055625, RefSeq RNA:NM_014810, UniProtKB:Q5VT06 No chr1 179923908 180084015 179954773 180114880 +PA37039 95681 HGNC:12370 ENSG00000106477 centrosomal protein 41 CEP41 centrosomal protein 41kDa DKFZp762H1311, FLJ22445, JBTS15, TSGA14 Yes No Comparative Toxicogenomics Database:95681, Ensembl:ENSG00000106477, GenAtlas:TSGA14, GeneCard:TSGA14, HGNC:HGNC:12370, HumanCyc Gene:HS12632, ModBase:Q9BYV8, NCBI Gene:95681, OMIM:610523, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_061188, RefSeq RNA:NM_018718, UCSC Genome Browser:NM_018718, UniProtKB:A4D1M0, UniProtKB:Q9BYV8 No chr7 130033612 130081051 130393771 130441210 +PA134941638 11116 HGNC:17012 centrosomal protein 43 CEP43 FGFR1 oncogene partner FGFR1OP, FOP Yes No Comparative Toxicogenomics Database:11116, GeneCard:FGFR1OP, HGNC:HGNC:17012, HumanCyc Gene:HS03578, ModBase:O95684, NCBI Gene:11116, OMIM:605392, RefSeq DNA:NT_025741, RefSeq Protein:NP_008976, RefSeq Protein:NP_919410, RefSeq RNA:NM_007045, RefSeq RNA:NM_194429, UniProtKB:O95684 No chr6 167412805 167458064 166999317 167042418 +PA134933992 80817 HGNC:29356 ENSG00000164118 centrosomal protein 44 CEP44 centrosomal protein 44kDa KIAA1712 Yes No Ensembl:ENSG00000164118, GeneCard:KIAA1712, HGNC:HGNC:29356, ModBase:Q9C0F1, NCBI Gene:80817, RefSeq DNA:NT_016354, RefSeq Protein:NP_001035247, RefSeq Protein:NP_001138786, RefSeq RNA:NM_001040157, RefSeq RNA:NM_001145314, UniProtKB:B3KT53, UniProtKB:Q9C0F1 No chr4 175204828 175255506 174283677 174334355 +PA25475 55165 HGNC:1161 ENSG00000138180 centrosomal protein 55 CEP55 cancer/testis antigen 111, centrosomal protein 55kDa C10orf3, CT111, FLJ10540 Yes No Comparative Toxicogenomics Database:55165, Ensembl:ENSG00000138180, GenAtlas:CEP55, GeneCard:CEP55, HGNC:HGNC:1161, HumanCyc Gene:HS13716, ModBase:Q53EZ4, NCBI Gene:55165, OMIM:610000, RefSeq DNA:NT_030059, RefSeq Protein:NP_001120654, RefSeq Protein:NP_060601, RefSeq RNA:NM_001127182, RefSeq RNA:NM_018131, UCSC Genome Browser:NM_018131, UniProtKB:Q53EZ4 No chr10 95256369 95288849 93496612 93529094 +PA142672123 9702 HGNC:30794 ENSG00000166037 centrosomal protein 57 CEP57 centrosomal protein 57kDa KIAA0092, TSP57, Translokin Yes No Comparative Toxicogenomics Database:9702, Ensembl:ENSG00000166037, GeneCard:CEP57, HGNC:HGNC:30794, HumanCyc Gene:HS15397, ModBase:Q86XR8, NCBI Gene:9702, OMIM:607951, RefSeq DNA:NT_167190, RefSeq Protein:NP_055494, RefSeq RNA:NM_014679, UniProtKB:Q86XR8 No chr11 95523625 95565857 95790461 95832693 +PA134980921 285753 HGNC:21561 ENSG00000183137 centrosomal protein 57 like 1 CEP57L1 centrosomal protein 57kDa-like 1 C6orf182, MGC21731, bA487F23.2 Yes No Ensembl:ENSG00000183137, GeneCard:C6orf182, HGNC:HGNC:21561, ModBase:Q8IYX8, NCBI Gene:285753, RefSeq DNA:NT_025741, RefSeq Protein:NP_001077004, RefSeq Protein:NP_776191, RefSeq RNA:NM_001083535, RefSeq RNA:NM_173830, UniProtKB:Q8IYX8 No chr6 109416329 109485115 109095130 109167696 +PA134872811 221017 HGNC:23521 ENSG00000224725 centrosomal protein 57kDa-like 1 pseudogene 1 CEP57L1P1 Yes No Ensembl:ENSG00000224725, HGNC:HGNC:23521, NCBI Gene:221017, RefSeq DNA:NT_008583, RefSeq Protein:XP_166160, RefSeq Protein:XP_943929, RefSeq RNA:XM_166160, RefSeq RNA:XM_938836 No chr10 72149122 72150376 70389422 70390620 +PA142672124 80254 HGNC:25815 ENSG00000182923 centrosomal protein 63 CEP63 centrosomal protein 63kDa FLJ13386 Yes No Comparative Toxicogenomics Database:80254, Ensembl:ENSG00000182923, GeneCard:CEP63, HGNC:HGNC:25815, ModBase:Q96MT8, NCBI Gene:80254, RefSeq DNA:NT_005612, RefSeq Protein:NP_001035842, RefSeq Protein:NP_001035843, RefSeq Protein:NP_001035859, RefSeq Protein:NP_079456, RefSeq RNA:NM_001042383, RefSeq RNA:NM_001042384, RefSeq RNA:NM_001042400, RefSeq RNA:NM_025180, UniProtKB:Q96MT8 No chr3 134204575 134293855 134485733 134629607 +PA134991391 23177 HGNC:29076 ENSG00000011523 centrosomal protein 68 CEP68 centrosomal protein 68kDa KIAA0582 Yes Yes Comparative Toxicogenomics Database:23177, Ensembl:ENSG00000011523, GeneCard:CEP68, HGNC:HGNC:29076, HumanCyc Gene:HS00321, ModBase:Q76N32, NCBI Gene:23177, RefSeq DNA:NT_022184, RefSeq Protein:NP_055962, RefSeq RNA:NM_015147, UniProtKB:Q76N32 No chr2 65283495 65314142 65056361 65087008 +PA128394729 80321 HGNC:29972 ENSG00000114107 centrosomal protein 70 CEP70 centrosomal protein 70kDa BITE, FLJ13036 Yes No Ensembl:ENSG00000114107, GeneCard:CEP70, HGNC:HGNC:29972, HumanCyc Gene:HS12811, ModBase:Q8NHQ1, NCBI Gene:80321, RefSeq DNA:NT_005612, RefSeq Protein:NP_077817, RefSeq RNA:NM_024491, UCSC Genome Browser:NM_024491, UniProtKB:Q8NHQ1 No chr3 138213186 138313187 138494339 138594383 +PA142672125 55722 HGNC:25547 ENSG00000112877 centrosomal protein 72 CEP72 centrosomal protein 72kDa FLJ10565, KIAA1519 Yes Yes Comparative Toxicogenomics Database:55722, Ensembl:ENSG00000112877, GeneCard:CEP72, HGNC:HGNC:25547, HumanCyc Gene:HS12785, ModBase:Q9P209, NCBI Gene:55722, RefSeq DNA:NT_006576, RefSeq Protein:NP_060610, RefSeq RNA:NM_018140, UniProtKB:Q9P209 No chr5 612405 655807 612290 663500 +PA134916911 79959 HGNC:25727 ENSG00000101624 centrosomal protein 76 CEP76 centrosomal protein 76kDa C18orf9, FLJ12542, HsT1705 Yes No Comparative Toxicogenomics Database:79959, Ensembl:ENSG00000101624, GeneCard:CEP76, HGNC:HGNC:25727, HumanCyc Gene:HS12459, ModBase:Q8TAP6, NCBI Gene:79959, RefSeq DNA:NT_010859, RefSeq Protein:NP_079175, RefSeq RNA:NM_024899, UniProtKB:Q8TAP6 No chr18 12661748 12702776 12661733 12702777 +PA134937066 84131 HGNC:25740 ENSG00000148019 centrosomal protein 78 CEP78 centrosomal protein 78kDa C9orf81, FLJ12643 Yes No Ensembl:ENSG00000148019, GeneCard:CEP78, HGNC:HGNC:25740, ModBase:Q5JTW2, NCBI Gene:84131, RefSeq DNA:NT_008470, RefSeq Protein:NP_001092272, RefSeq Protein:NP_115547, RefSeq RNA:NM_001098802, RefSeq RNA:NM_032171, UniProtKB:Q5JTW2 No chr9 80850978 80886799 78236062 78278431 +PA142672158 51134 HGNC:17966 ENSG00000173588 centrosomal protein 83 CEP83 centrosomal protein 83kDa, coiled-coil domain containing 41 CCDC41, NPHP18, NY-REN-58 Yes No Comparative Toxicogenomics Database:51134, Ensembl:ENSG00000173588, GeneCard:CCDC41, HGNC:HGNC:17966, HumanCyc Gene:HS16230, NCBI Gene:51134, RefSeq DNA:NT_029419, RefSeq Protein:NP_001035858, RefSeq Protein:NP_057206, RefSeq RNA:NM_001042399, RefSeq RNA:NM_016122, UniProtKB:Q3B787, UniProtKB:Q9Y592 No chr12 94702056 94853764 94268832 94459991 +PA142672180 64793 HGNC:25309 ENSG00000130695 centrosomal protein 85 CEP85 centrosomal protein 85kDa CCDC21, DKFZP434L0117 Yes No Ensembl:ENSG00000130695, GeneCard:CCDC21, HGNC:HGNC:25309, HumanCyc Gene:HS13344, ModBase:Q6P2H3, NCBI Gene:64793, RefSeq DNA:NT_004610, RefSeq Protein:NP_073615, RefSeq RNA:NM_022778, UniProtKB:Q6P2H3 No chr1 26560644 26605529 26234153 26278810 +PA134984681 387119 HGNC:21638 ENSG00000111860 centrosomal protein 85 like CEP85L centrosomal protein 85kDa-like C6orf204, NY-BR-15, bA57K17.2 Yes No Ensembl:ENSG00000111860, GeneCard:C6orf204, HGNC:HGNC:21638, ModBase:Q5SZL2, NCBI Gene:387119, RefSeq DNA:NG_021248, RefSeq DNA:NT_025741, RefSeq Protein:NP_001035940, RefSeq Protein:NP_001171506, RefSeq Protein:NP_996804, RefSeq RNA:NM_001042475, RefSeq RNA:NM_001178035, RefSeq RNA:NM_206921, UniProtKB:Q3ZCQ5, UniProtKB:Q5SZL2 No chr6 118781935 119031238 118460772 118710101 +PA147358250 84902 HGNC:25907 ENSG00000121289 centrosomal protein 89 CEP89 centrosomal protein 89kDa CCDC123, FLJ14640 Yes No Comparative Toxicogenomics Database:84902, Ensembl:ENSG00000121289, GeneCard:CCDC123, HGNC:HGNC:25907, HumanCyc Gene:HS13016, NCBI Gene:84902, RefSeq DNA:NT_011109, RefSeq Protein:NP_116205, RefSeq RNA:NM_032816, UniProtKB:Q96ST8 No chr19 33369904 33462930 32875925 32972029 +PA142672162 90799 HGNC:25141 ENSG00000258890 centrosomal protein 95 CEP95 centrosomal protein 95kDa CCDC45, DKFZp667E1824 Yes No Ensembl:ENSG00000258890, GeneCard:CCDC45, HGNC:HGNC:25141, HumanCyc Gene:HS13872, ModBase:Q96GE4, NCBI Gene:90799, RefSeq DNA:NT_010783, RefSeq Protein:NP_612372, RefSeq RNA:NM_138363, UniProtKB:Q96GE4 No chr17 62502878 62534069 64506736 64537951 +PA162382176 79598 HGNC:26244 ENSG00000182504 centrosomal protein 97 CEP97 centrosomal protein 97kDa FLJ23047, LRRIQ2 Yes No Ensembl:ENSG00000182504, GeneCard:CEP97, HGNC:HGNC:26244, HumanCyc Gene:HS14051, ModBase:Q8IW35, NCBI Gene:79598, RefSeq DNA:NT_005612, RefSeq Protein:NP_078824, RefSeq RNA:NM_024548, UniProtKB:Q8IW35 No chr3 101443436 101489404 101724098 101770562 +PA134892657 10390 HGNC:24289 ENSG00000134255 choline/ethanolamine phosphotransferase 1 CEPT1 Yes No Comparative Toxicogenomics Database:10390, Ensembl:ENSG00000134255, GeneCard:CEPT1, HGNC:HGNC:24289, HumanCyc Gene:HS05844, ModBase:Q9Y6K0, NCBI Gene:10390, RefSeq DNA:NT_032977, RefSeq Protein:NP_001007795, RefSeq Protein:NP_006081, RefSeq RNA:NM_001007794, RefSeq RNA:NM_006090, UniProtKB:B3KN25, UniProtKB:Q9Y6K0 No chr1 111682249 111727724 111139436 111185102 +PA26417 9350 HGNC:1862 ENSG00000147869 cerberus 1, DAN family BMP antagonist CER1 DAND4 Yes No Comparative Toxicogenomics Database:9350, Ensembl:ENSG00000147869, GenAtlas:CER1, GeneCard:CER1, HGNC:HGNC:1862, HumanCyc Gene:HS07475, ModBase:O95813, NCBI Gene:9350, OMIM:603777, RefSeq DNA:NT_008413, RefSeq Protein:NP_005445, RefSeq RNA:NM_005454, UCSC Genome Browser:NM_005454, UniProtKB:O95813 No chr9 14719731 14722715 14715082 14724308 +PA162382177 51148 HGNC:23723 ENSG00000167123 cerebral endothelial cell adhesion molecule CERCAM glycosyltransferase 25 domain containing 3 CEECAM1, CerCAM, GLT25D3 Yes No Ensembl:ENSG00000167123, GeneCard:CERCAM, HGNC:HGNC:23723, HumanCyc Gene:HS09516, ModBase:Q9P226, NCBI Gene:51148, RefSeq DNA:NT_008470, RefSeq Protein:NP_057258, RefSeq RNA:NM_016174, UniProtKB:Q5T4B2 No chr9 131173854 131199630 128405993 128437351 +PA134958321 64781 HGNC:19256 ENSG00000100422 ceramide kinase CERK DKFZp434E0211, FLJ21430, FLJ23239, KIAA1646, LK4, dA59H18.2, dA59H18.3, hCERK Yes No Comparative Toxicogenomics Database:64781, Ensembl:ENSG00000100422, GeneCard:CERK, HGNC:HGNC:19256, HumanCyc Gene:HS02080, ModBase:Q8TCT0, NCBI Gene:64781, OMIM:610307, RefSeq DNA:NT_011520, RefSeq Protein:NP_073603, RefSeq RNA:NM_022766, UniProtKB:Q8TCT0 No chr22 47080307 47134152 46684410 46738255 +PA134984780 375298 HGNC:21699 ENSG00000188452 ceramide kinase like CERKL ceramide kinase-like RP26 Yes Yes Comparative Toxicogenomics Database:375298, Ensembl:ENSG00000188452, GeneCard:CERKL, HGNC:HGNC:21699, ModBase:Q5DVJ5, NCBI Gene:375298, OMIM:608380, OMIM:608381, RefSeq DNA:NG_021178, RefSeq DNA:NT_005403, RefSeq Protein:NP_001025482, RefSeq Protein:NP_001025483, RefSeq Protein:NP_001025484, RefSeq Protein:NP_001153749, RefSeq Protein:NP_963842, RefSeq RNA:NM_001030311, RefSeq RNA:NM_001030312, RefSeq RNA:NM_001030313, RefSeq RNA:NM_001160277, RefSeq RNA:NM_201548, RefSeq RNA:NR_027689, RefSeq RNA:NR_027690, UniProtKB:B4DEY1, UniProtKB:Q49MI3 No chr2 182401399 182521834 181536672 181657107 +PA30299 10715 HGNC:14253 ENSG00000223802 ceramide synthase 1 CERS1 LAG1, LASS1, UOG1 Yes No Ensembl:ENSG00000223802, GenAtlas:LASS1, GeneCard:LASS1, HGNC:HGNC:14253, HumanCyc Gene:HS05362, ModBase:P27544, NCBI Gene:10715, OMIM:606919, RefSeq DNA:NG_003110, RefSeq DNA:NT_011295, RefSeq Protein:NP_067090, RefSeq Protein:NP_937850, RefSeq RNA:NM_021267, RefSeq RNA:NM_198207, UCSC Genome Browser:NM_021267, UniProtKB:P27544 No chr19 18979361 19007396 18868546 18896727 +PA30300 29956 HGNC:14076 ENSG00000143418 ceramide synthase 2 CERS2 FLJ10243, LASS2, SP260 Yes No Comparative Toxicogenomics Database:29956, Ensembl:ENSG00000143418, GenAtlas:LASS2, GeneCard:LASS2, HGNC:HGNC:14076, HumanCyc Gene:HS07050, ModBase:Q96G23, NCBI Gene:29956, OMIM:606920, RefSeq DNA:NT_004487, RefSeq Protein:NP_071358, RefSeq Protein:NP_859530, RefSeq RNA:NM_022075, RefSeq RNA:NM_181746, UCSC Genome Browser:NM_013384, UniProtKB:Q96G23 No chr1 150937649 150947479 150965173 150975003 +PA134873153 204219 HGNC:23752 ENSG00000154227 ceramide synthase 3 CERS3 LASS3, MGC27091 Yes No Ensembl:ENSG00000154227, GeneCard:LASS3, HGNC:HGNC:23752, ModBase:Q8IU89, NCBI Gene:204219, RefSeq DNA:NT_010274, RefSeq Protein:NP_849164, RefSeq RNA:NM_178842, UniProtKB:Q8IU89 No chr15 100940600 101084925 100400395 100544982 +PA134915173 79603 HGNC:23747 ENSG00000090661 ceramide synthase 4 CERS4 FLJ12089, LASS4, Trh1 Yes No Comparative Toxicogenomics Database:79603, Ensembl:ENSG00000090661, GeneCard:LASS4, HGNC:HGNC:23747, HumanCyc Gene:HS01702, ModBase:Q9HA82, NCBI Gene:79603, RefSeq DNA:NT_077812, RefSeq Protein:NP_078828, RefSeq RNA:NM_024552, UniProtKB:Q53HF9, UniProtKB:Q9HA82 No chr19 8274217 8327305 8209329 8262433 +PA134882694 91012 HGNC:23749 ENSG00000139624 ceramide synthase 5 CERS5 FLJ25304, LASS5, MGC45411, Trh4 Yes No Comparative Toxicogenomics Database:91012, Ensembl:ENSG00000139624, GeneCard:LASS5, HGNC:HGNC:23749, HumanCyc Gene:HS06638, ModBase:Q8N5B7, NCBI Gene:91012, RefSeq DNA:NT_029419, RefSeq Protein:NP_671723, RefSeq RNA:NM_147190, UniProtKB:Q8N5B7 No chr12 50523581 50561154 50129306 50167533 +PA134925480 253782 HGNC:23826 ENSG00000172292 ceramide synthase 6 CERS6 LASS6 Yes Yes Comparative Toxicogenomics Database:253782, Ensembl:ENSG00000172292, GeneCard:LASS6, HGNC:HGNC:23826, ModBase:Q6ZMG9, NCBI Gene:253782, RefSeq DNA:NT_005403, RefSeq Protein:NP_982288, RefSeq RNA:NM_203463, UniProtKB:Q6ZMG9 No chr2 169312759 169631644 168456249 168775134 +PA26720 10087 HGNC:2205 ceramide transporter 1 CERT1 """StAR-related lipid transfer (START) domain containing 11"", ""ceramide transporter"", ""collagen type IV alpha 3 binding protein"", ""collagen, type IV, alpha 3 (Goodpasture antigen) binding protein""" CERT, COL4A3BP, GPBP, STARD11 Yes No Comparative Toxicogenomics Database:10087, GenAtlas:COL4A3BP, GeneCard:COL4A3BP, HGNC:HGNC:2205, HumanCyc Gene:HS03653, ModBase:Q9Y5P4, NCBI Gene:10087, OMIM:604677, RefSeq DNA:NT_006713, RefSeq Protein:NP_001123577, RefSeq Protein:NP_005704, RefSeq Protein:NP_112729, RefSeq RNA:NM_001130105, RefSeq RNA:NM_005713, RefSeq RNA:NM_031361, UCSC Genome Browser:NM_005713, UniProtKB:B3KUB7, UniProtKB:Q9Y5P4 No chr5 74666928 74807806 75368486 75511981 +PA107 1066 HGNC:1863 ENSG00000198848 carboxylesterase 1 CES1 human monocyte/macrophage serine esterase 1 CEH, CES1A1, CES1A2, CES2, HMSE, HMSE1, SES1 Yes Yes Comparative Toxicogenomics Database:1066, Ensembl:ENSG00000198848, GenAtlas:CES1, GeneCard:CES1, HGNC:HGNC:1863, HumanCyc Gene:HS02417, HumanCyc Gene:HS11616, ModBase:Q16788, NCBI Gene:1066, OMIM:114835, RefSeq DNA:NG_012057, RefSeq DNA:NT_010498, RefSeq Protein:NP_001020365, RefSeq Protein:NP_001020366, RefSeq Protein:NP_001257, RefSeq RNA:NM_001025194, RefSeq RNA:NM_001025195, RefSeq RNA:NM_001266, UCSC Genome Browser:NM_001266, UniProtKB:P23141 No chr16 55836763 55867098 55802851 55833186 +PA134906523 51716 HGNC:18546 ENSG00000228695 carboxylesterase 1 pseudogene 1 CES1P1 CES1A3, CESR, PCE-3 Yes Yes Ensembl:ENSG00000228695, GeneCard:CES1P1, HGNC:HGNC:18546, NCBI Gene:51716, RefSeq DNA:NT_010498, RefSeq RNA:NR_003276 No chr16 55794511 55808838 55760599 55774926 +PA377 8824 HGNC:1864 ENSG00000172831 carboxylesterase 2 CES2 CE-2, CES2A1, iCE Yes Yes Comparative Toxicogenomics Database:8824, Ensembl:ENSG00000172831, GenAtlas:CES2, GeneCard:CES2, HGNC:HGNC:1864, HumanCyc Gene:HS10578, ModBase:O00748, NCBI Gene:8824, OMIM:605278, RefSeq DNA:NT_010498, RefSeq Protein:NP_003860, RefSeq Protein:NP_932327, RefSeq RNA:NM_001365406, RefSeq RNA:NM_003869, RefSeq RNA:NM_198061, UCSC Genome Browser:NM_003869, UniProtKB:O00748 No chr16 66968347 66978999 66934444 66945096 +PA26418 23491 HGNC:1865 ENSG00000172828 carboxylesterase 3 CES3 brain carboxylesterase BR3, esterase 31 ES31, FLJ21736 Yes No Comparative Toxicogenomics Database:23491, Ensembl:ENSG00000172828, GenAtlas:CES3, GeneCard:CES3, HGNC:HGNC:1865, ModBase:Q6UWW8, NCBI Gene:23491, OMIM:605279, RefSeq DNA:NT_010498, RefSeq Protein:NP_001172105, RefSeq Protein:NP_001172106, RefSeq Protein:NP_079198, RefSeq RNA:NM_001185176, RefSeq RNA:NM_001185177, RefSeq RNA:NM_024922, UCSC Genome Browser:NM_012122, UniProtKB:Q6UWW8 No chr16 66995132 67009052 66961229 66975152 +PA164717904 283848 HGNC:26741 ENSG00000172824 carboxylesterase 4A CES4A CES8, FLJ37464 Yes No Ensembl:ENSG00000172824, GeneCard:CES8, HGNC:HGNC:26741, HumanCyc Gene:HS10575, NCBI Gene:283848, RefSeq DNA:NT_010498, RefSeq Protein:NP_001177129, RefSeq Protein:NP_001177130, RefSeq Protein:NP_001177131, RefSeq Protein:NP_776176, RefSeq RNA:NM_001190200, RefSeq RNA:NM_001190201, RefSeq RNA:NM_001190202, RefSeq RNA:NM_173815, UniProtKB:B7Z349, UniProtKB:B7Z6R3 No chr16 67022491 67043661 66988589 67009758 +PA142672130 221223 HGNC:26459 ENSG00000159398 carboxylesterase 5A CES5A CAUXIN, CES4C1, CES5, CES7, FLJ31547 Yes No Ensembl:ENSG00000159398, GeneCard:CES7, HGNC:HGNC:26459, HumanCyc Gene:HS08398, ModBase:Q6NT32, NCBI Gene:221223, RefSeq DNA:NT_010498, RefSeq Protein:NP_001137157, RefSeq Protein:NP_001177087, RefSeq Protein:NP_659461, RefSeq RNA:NM_001143685, RefSeq RNA:NM_001190158, RefSeq RNA:NM_145024, UniProtKB:B7Z252, UniProtKB:Q6NT32 No chr16 55880066 55989943 55846154 55956031 +PA26419 1068 HGNC:1866 ENSG00000177143 centrin 1 CETN1 centrin, EF-hand protein, 1 CEN1, CETN Yes No Ensembl:ENSG00000177143, GenAtlas:CETN1, GeneCard:CETN1, HGNC:HGNC:1866, HumanCyc Gene:HS11128, ModBase:Q12798, NCBI Gene:1068, OMIM:603187, RefSeq DNA:NT_010859, RefSeq Protein:NP_004057, RefSeq RNA:NM_004066, UCSC Genome Browser:NM_004066, UniProtKB:Q12798 No chr18 580369 581524 580343 582020 +PA26420 1069 HGNC:1867 ENSG00000147400 centrin 2 CETN2 centrin, EF-hand protein, 2 CALT, CEN2 Yes No Ensembl:ENSG00000147400, GenAtlas:CETN2, GeneCard:CETN2, HGNC:HGNC:1867, HumanCyc Gene:HS07425, ModBase:P41208, NCBI Gene:1069, OMIM:300006, RefSeq DNA:NT_167198, RefSeq Protein:NP_004335, RefSeq RNA:NM_004344, UCSC Genome Browser:NM_004344, UniProtKB:P41208 No chrX 151995871 151999301 152827327 152830757 +PA26421 1070 HGNC:1868 ENSG00000153140 centrin 3 CETN3 """CDC31 yeast homolog"", ""EF-hand superfamily member"", ""centrin, EF-hand protein, 3""" CEN3 Yes No Comparative Toxicogenomics Database:1070, Ensembl:ENSG00000153140, GenAtlas:CETN3, GeneCard:CETN3, HGNC:HGNC:1868, HumanCyc Gene:HS07885, ModBase:O15182, NCBI Gene:1070, OMIM:602907, RefSeq DNA:NT_006713, RefSeq Protein:NP_004356, RefSeq RNA:NM_004365, UCSC Genome Browser:NM_004365, UniProtKB:O15182 No chr5 89689528 89705611 90393335 90409786 +PA108 1071 HGNC:1869 ENSG00000087237 cholesteryl ester transfer protein CETP """BPI fold containing family F"", ""cholesteryl ester transfer protein, plasma""" BPIFF Yes Yes Comparative Toxicogenomics Database:1071, Ensembl:ENSG00000087237, GenAtlas:CETP, GeneCard:CETP, HGNC:HGNC:1869, HumanCyc Gene:HS01564, ModBase:P11597, NCBI Gene:1071, OMIM:118470, OMIM:143470, OMIM:152430, OMIM:607322, RefSeq DNA:NG_008952, RefSeq DNA:NT_010498, RefSeq Protein:NP_000069, RefSeq RNA:NM_000078, UCSC Genome Browser:NM_000078, UniProtKB:P11597 No chr16 56995835 57017757 56961923 56983844 +PA142672192 348807 HGNC:26842 ENSG00000163885 cilia and flagella associated protein 100 CFAP100 coiled-coil domain containing 37 CCDC37, FLJ40083, MIA1 Yes No Ensembl:ENSG00000163885, GeneCard:CCDC37, HGNC:HGNC:26842, NCBI Gene:348807, RefSeq DNA:NT_005612, RefSeq Protein:NP_872434, RefSeq RNA:NM_182628, UniProtKB:Q494V2 No chr3 126113751 126155399 126394893 126436556 +PA166352394 93190 HGNC:28567 cilia and flagella associated protein 107 CFAP107 C1orf158 MGC35194 Yes No HGNC:HGNC:28567, NCBI Gene:93190 No 0 0 0 0 +PA166352395 90835 HGNC:28078 cilia and flagella associated protein 119 CFAP119 C16orf93, CCDC189, spergen-4 MGC104706 Yes No HGNC:HGNC:28078, NCBI Gene:90835 No 0 0 0 0 +PA142672403 257177 HGNC:32325 ENSG00000188931 cilia and flagella associated protein 126 CFAP126 chromosome 1 open reading frame 192 C1orf192, Flattop, Fltp Yes No Ensembl:ENSG00000188931, GeneCard:C1orf192, HGNC:HGNC:32325, NCBI Gene:257177, RefSeq DNA:NT_004487, RefSeq Protein:NP_001013647, RefSeq RNA:NM_001013625, UniProtKB:Q5VTH2 No chr1 161334521 161337673 161364731 161367883 +PA166352396 388701 HGNC:32305 cilia and flagella associated protein 141 CFAP141 C1orf189 Yes No HGNC:HGNC:32305, NCBI Gene:388701 No 0 0 0 0 +PA164719746 440585 HGNC:34347 ENSG00000186973 cilia and flagella associated protein 144 CFAP144 """family with sequence similarity 183 member A"", ""family with sequence similarity 183, member A""" FAM183A, LOC440585, hCG23177 Yes No Ensembl:ENSG00000186973, GeneCard:FAM183A, HGNC:HGNC:34347, NCBI Gene:440585, RefSeq DNA:NT_032977, RefSeq Protein:NP_001094846, RefSeq RNA:NM_001101376, UniProtKB:A6NL82 No chr1 43610800 43622067 43142959 43156396 +PA134929148 286207 HGNC:27843 ENSG00000160401 cilia and flagella associated protein 157 CFAP157 chromosome 9 open reading frame 117 C9orf117 Yes No Ensembl:ENSG00000160401, GeneCard:C9orf117, HGNC:HGNC:27843, ModBase:Q5JU67, NCBI Gene:286207, RefSeq DNA:NT_008470, RefSeq Protein:NP_001012520, RefSeq RNA:NM_001012502, UniProtKB:Q5JU67 No chr9 130469263 130476303 127706261 127716002 +PA134908662 161502 HGNC:26782 ENSG00000156206 cilia and flagella associated protein 161 CFAP161 chromosome 15 open reading frame 26 C15orf26, FLJ38615 Yes No Ensembl:ENSG00000156206, GeneCard:C15orf26, HGNC:HGNC:26782, HumanCyc Gene:HS14608, ModBase:Q6P656, NCBI Gene:161502, RefSeq DNA:NT_010194, RefSeq Protein:NP_775799, RefSeq RNA:NM_173528, UniProtKB:Q6P656 No chr15 81391749 81441516 81099408 81149175 +PA144596463 257236 HGNC:26900 ENSG00000173013 cilia and flagella associated protein 184 CFAP184 coiled-coil domain containing 96 CCDC96, FLJ90575 Yes No Ensembl:ENSG00000173013, GeneCard:CCDC96, HGNC:HGNC:26900, HumanCyc Gene:HS16162, ModBase:Q2M329, NCBI Gene:257236, RefSeq DNA:NT_006051, RefSeq Protein:NP_699207, RefSeq RNA:NM_153376, UniProtKB:Q2M329 No chr4 7042576 7044728 7040849 7043001 +PA162378384 29105 HGNC:29523 ENSG00000070761 cilia and flagella associated protein 20 CFAP20 chromosome 16 open reading frame 80, flagellar associated protein 20 homolog (Chlamydomonas), functional spliceosome-associated protein 23 C16orf80, GTL3, fSAP23 Yes No Ensembl:ENSG00000070761, GeneCard:C16orf80, HGNC:HGNC:29523, HumanCyc Gene:HS01009, NCBI Gene:29105, RefSeq DNA:NT_010498, RefSeq Protein:NP_037374, RefSeq RNA:NM_013242, UniProtKB:Q9Y6A4 No chr16 58147496 58163296 58113588 58129425 +PA134983540 154313 HGNC:21405 ENSG00000272514 cilia and flagella associated protein 206 CFAP206 chromosome 6 open reading frame 165 C6orf165, FLJ25974, dJ382I10.1 Yes No Ensembl:ENSG00000272514, GeneCard:C6orf165, HGNC:HGNC:21405, ModBase:Q8IYR0, NCBI Gene:154313, RefSeq DNA:NT_007299, RefSeq Protein:NP_001026913, RefSeq Protein:NP_849145, RefSeq RNA:NM_001031743, RefSeq RNA:NM_178823, UniProtKB:Q8IYR0, UniProtKB:Q8N771 No chr6 88117690 88174191 87407972 87464473 +PA166352391 200844 HGNC:24763 CFAP20 domain containing CFAP20DC C3orf67 FLJ42117, FLJ42930 Yes No HGNC:HGNC:24763, NCBI Gene:200844 No 0 0 0 0 +PA166352397 129881 HGNC:25064 cilia and flagella associated protein 210 CFAP210 C2orf77, CCDC173, hypothetical LOC129881 LOC129881 Yes No HGNC:HGNC:25064, NCBI Gene:129881 No 0 0 0 0 +PA166123678 200373 HGNC:33720 ENSG00000163075 cilia and flagella associated protein 221 CFAP221 flagellar associated protein 221 homolog (Chlamydomonas), primary ciliary dyskinesia 1 homolog (mouse) FAP221, PCDP1 Yes No Ensembl:ENSG00000163075, HGNC:HGNC:33720, NCBI Gene:200373 No +PA142670599 144406 HGNC:28506 cilia and flagella associated protein 251 CFAP251 WD repeat domain 66 CaM-IP4, MGC33630, WDR66 Yes No Comparative Toxicogenomics Database:144406, GeneCard:WDR66, HGNC:HGNC:28506, HumanCyc Gene:HS14691, ModBase:Q8TBY9, NCBI Gene:144406, RefSeq DNA:NG_021364, RefSeq DNA:NT_009775, RefSeq Protein:NP_001171474, RefSeq Protein:NP_653269, RefSeq RNA:NM_001178003, RefSeq RNA:NM_144668, UniProtKB:C9J1W2, UniProtKB:Q8TBY9 No chr12 122356463 122441839 121918557 122003927 +PA145149245 29070 HGNC:25002 ENSG00000103021 cilia and flagella associated protein 263 CFAP263 coiled-coil domain containing 113 CCDC113, DKFZp434N1418, HSPC065 Yes No Comparative Toxicogenomics Database:29070, Ensembl:ENSG00000103021, GeneCard:CCDC113, HGNC:HGNC:25002, HumanCyc Gene:HS12506, ModBase:Q9H0I3, NCBI Gene:29070, RefSeq DNA:NT_010498, RefSeq Protein:NP_001135774, RefSeq Protein:NP_054876, RefSeq RNA:NM_001142302, RefSeq RNA:NM_014157, UniProtKB:B4DR20, UniProtKB:Q9H0I3 No chr16 58283840 58317740 58196863 58283836 +PA166352398 127003 HGNC:32331 cilia and flagella associated protein 276 CFAP276 C1orf194 Yes No HGNC:HGNC:32331, NCBI Gene:127003 No 0 0 0 0 +PA25854 56683 HGNC:1301 ENSG00000159079 cilia and flagella associated protein 298 CFAP298 chromosome 21 open reading frame 59, dynein axonemal assembly factor 16, kurly homolog (zebrafish) C21orf48, C21orf59, CILD26, DNAAF16, FBB18, FLJ20467, Kur Yes No Ensembl:ENSG00000159079, GenAtlas:C21orf59, GeneCard:C21orf59, HGNC:HGNC:1301, HumanCyc Gene:HS08353, ModBase:P57076, NCBI Gene:56683, RefSeq DNA:NT_011512, RefSeq Protein:NP_067077, RefSeq RNA:NM_021254, RefSeq RNA:NR_036552, UCSC Genome Browser:NM_017835, UniProtKB:P57076 No chr21 33973977 33985174 32601674 32612608 +PA145008853 255119 HGNC:28554 ENSG00000197826 cilia and flagella associated protein 299 CFAP299 chromosome 4 open reading frame 22 C4orf22 Yes No Ensembl:ENSG00000197826, GeneCard:C4orf22, HGNC:HGNC:28554, NCBI Gene:255119, RefSeq DNA:NT_016354, RefSeq Protein:NP_001193926, RefSeq Protein:NP_689983, RefSeq RNA:NM_001206997, RefSeq RNA:NM_152770, UniProtKB:Q6V702 No chr4 81256861 81884910 80321265 80963756 +PA144596489 85016 HGNC:28188 ENSG00000137691 cilia and flagella associated protein 300 CFAP300 chromosome 11 open reading frame 70, dynein axonemal assembly factor 17 C11orf70, DNAAF17, FBB5, MGC13040 Yes No Ensembl:ENSG00000137691, GeneCard:C11orf70, HGNC:HGNC:28188, HumanCyc Gene:HS13690, NCBI Gene:85016, RefSeq DNA:NT_033899, RefSeq Protein:NP_001181934, RefSeq Protein:NP_116319, RefSeq RNA:NM_001195005, RefSeq RNA:NM_032930, UniProtKB:Q9BRQ4 No chr11 101918147 101955291 102047409 102084560 +PA145008608 112942 HGNC:30540 ENSG00000163001 cilia and flagella associated protein 36 CFAP36 coiled-coil domain containing 104 BARTL1, CCDC104, MGC15407 Yes No Ensembl:ENSG00000163001, GeneCard:CCDC104, HGNC:HGNC:30540, HumanCyc Gene:HS15001, ModBase:Q96G28, NCBI Gene:112942, RefSeq DNA:NT_022184, RefSeq Protein:NP_542398, RefSeq RNA:NM_080667, UniProtKB:Q96G28 No chr2 55746740 55772216 55519595 55545080 +PA25816 755 HGNC:1260 ENSG00000160226 cilia and flagella associated protein 410 CFAP410 chromosome 21 open reading frame 2, leucine rich repeat containing 76, nuclear encoded mitochondrial protein A2, C21orf2, LRRC76, YF5 Yes No Ensembl:ENSG00000160226, GenAtlas:C21orf2, GeneCard:C21orf2, HGNC:HGNC:1260, HumanCyc Gene:HS08475, ModBase:O43822, NCBI Gene:755, OMIM:603191, RefSeq DNA:NT_011515, RefSeq Protein:NP_004919, RefSeq RNA:NM_004928, UCSC Genome Browser:NM_004928, UniProtKB:O43822 No chr21 45748827 45759285 44328944 44339417 +PA166352399 157657 HGNC:27232 cilia and flagella associated protein 418 CFAP418 Bardet-Biedl syndrome 21, C8orf37, cone-rod dystrophy 16 BBS21, CORD16, FAP418, FLJ30600, MOT25., RP64, SMALLTALK Yes No HGNC:HGNC:27232, NCBI Gene:157657 No 0 0 0 0 +PA134981723 80217 HGNC:26684 ENSG00000197748 cilia and flagella associated protein 43 CFAP43 WD repeat domain 96 C10orf79, FLJ22944, FLJ36006, WDR96, bA373N18.2 Yes No Ensembl:ENSG00000197748, GeneCard:C10orf79, HGNC:HGNC:26684, NCBI Gene:80217, RefSeq DNA:NT_030059, RefSeq Protein:NP_079421, RefSeq RNA:NM_025145, UniProtKB:Q8NDM7 No chr10 105889646 105992124 104129888 104232363 +PA134928828 55779 HGNC:25631 ENSG00000206530 cilia and flagella associated protein 44 CFAP44 WD repeat domain 52 FLJ11142, WDR52 Yes Yes Ensembl:ENSG00000206530, GeneCard:WDR52, HGNC:HGNC:25631, ModBase:Q96MT7, NCBI Gene:55779, RefSeq DNA:NT_005612, RefSeq Protein:NP_001157968, RefSeq Protein:NP_060808, RefSeq RNA:NM_001164496, RefSeq RNA:NM_018338, UniProtKB:Q96MT7, UniProtKB:Q9NUU0, UniProtKB:Q9UF55 No chr3 113005777 113160986 113286930 113445190 +PA142672179 25790 HGNC:17229 ENSG00000213085 cilia and flagella associated protein 45 CFAP45 coiled-coil domain containing 19 CCDC19, NESG1 Yes No Ensembl:ENSG00000213085, GeneCard:CCDC19, HGNC:HGNC:17229, HumanCyc Gene:HS08319, ModBase:Q9UL16, NCBI Gene:25790, OMIM:605152, RefSeq DNA:NT_004487, RefSeq Protein:NP_036469, RefSeq RNA:NM_012337, UniProtKB:Q9UL16 No chr1 159842150 159869992 159872364 159900116 +PA134884148 54777 HGNC:25247 ENSG00000171811 cilia and flagella associated protein 46 CFAP46 tetratricopeptide repeat domain 40 C10orf123, C10orf124, C10orf92, C10orf93, DKFZp434A1721, FLJ25954, TTC40, bA288G11.4, bA288G11.5, bB137A17.2, bB137A17.3 Yes No Ensembl:ENSG00000171811, GeneCard:C10orf92, HGNC:HGNC:25247, NCBI Gene:54777, RefSeq DNA:NT_008818, RefSeq Protein:NP_001186978, RefSeq Protein:NP_060079, RefSeq Protein:NP_775843, RefSeq Protein:XP_003118674, RefSeq RNA:NM_001200049, RefSeq RNA:NM_017609, RefSeq RNA:NM_173572, RefSeq RNA:XM_003118626 No chr10 134621896 134756089 132808392 132942585 +PA145149062 286464 HGNC:26708 ENSG00000165164 cilia and flagella associated protein 47 CFAP47 calponin homology domain containing 2 CHDC2, CXorf22, CXorf30, CXorf59, FLJ36601, MGC34831, RP13-11B7.1 Yes No Ensembl:ENSG00000165164, GeneCard:CXorf59, HGNC:HGNC:26708, HumanCyc Gene:HS16570, ModBase:Q8N9S7, NCBI Gene:286464, RefSeq DNA:NG_016381, RefSeq DNA:NT_167197, RefSeq Protein:NP_775966, RefSeq RNA:NM_173695, UniProtKB:Q8N9S7 No chrX 36057125 36163187 35919734 36385319 +PA38084 146845 HGNC:16053 ENSG00000166596 cilia and flagella associated protein 52 CFAP52 WD repeat domain 16, WD40-repeat protein upregulated in HCC FLJ37528, WDR16, WDRPUH Yes No Ensembl:ENSG00000166596, GenAtlas:WDR16, GeneCard:WDR16, HGNC:HGNC:16053, HumanCyc Gene:HS15465, ModBase:Q8N1V2, NCBI Gene:146845, OMIM:609804, RefSeq DNA:NT_010718, RefSeq Protein:NP_001074025, RefSeq Protein:NP_659491, RefSeq RNA:NM_001080556, RefSeq RNA:NM_145054, UniProtKB:Q8N1V2 No chr17 9479944 9546776 9576627 9643459 +PA134960690 220136 HGNC:26530 ENSG00000172361 cilia and flagella associated protein 53 CFAP53 coiled-coil domain containing 11 CCDC11, FLJ32743 Yes No Ensembl:ENSG00000172361, GeneCard:CCDC11, HGNC:HGNC:26530, HumanCyc Gene:HS16076, ModBase:Q96M91, NCBI Gene:220136, RefSeq DNA:NT_010966, RefSeq Protein:NP_659457, RefSeq RNA:NM_145020, UniProtKB:Q96M91 No chr18 47753563 47792865 50227193 50266522 +PA143485384 144535 HGNC:26456 ENSG00000188596 cilia and flagella associated protein 54 CFAP54 chromosome 12 open reading frame 55, cilia and flagella associated 54 C12orf55, C12orf63, FLJ31514, FLJ44112 Yes No Ensembl:ENSG00000188596, GeneCard:C12orf55, HGNC:HGNC:26456, NCBI Gene:144535, RefSeq DNA:NT_029419, RefSeq Protein:XP_001131723, RefSeq Protein:XP_001715142, RefSeq Protein:XP_001718035, RefSeq RNA:XM_001131723, RefSeq RNA:XM_001715090, RefSeq RNA:XM_001717983 No chr12 96966648 97269333 96489566 96875555 +PA142670598 149465 HGNC:26485 ENSG00000243710 cilia and flagella associated protein 57 CFAP57 WD repeat domain 65 FLJ32000, WDR65 Yes No Ensembl:ENSG00000243710, GeneCard:WDR65, HGNC:HGNC:26485, HumanCyc Gene:HS15138, ModBase:Q96MR6, NCBI Gene:149465, RefSeq DNA:NT_032977, RefSeq Protein:NP_001161437, RefSeq Protein:NP_001161438, RefSeq Protein:NP_689711, RefSeq Protein:XP_003119014, RefSeq RNA:NM_001167965, RefSeq RNA:NM_001167966, RefSeq RNA:NM_152498, RefSeq RNA:NR_030778, RefSeq RNA:XM_003118966, UniProtKB:Q96MR6 No chr1 43638001 43720029 43172330 43254358 +PA162381518 159686 HGNC:26676 ENSG00000120051 cilia and flagella associated protein 58 CFAP58 coiled-coil domain containing 147 C10orf80, CCDC147, FLJ35908, bA554P13.1 Yes No Ensembl:ENSG00000120051, GeneCard:CCDC147, HGNC:HGNC:26676, ModBase:Q5T655, NCBI Gene:159686, RefSeq DNA:NT_030059, RefSeq Protein:NP_001008723, RefSeq RNA:NM_001008723, UniProtKB:Q5T655 No chr10 106099377 106214848 104339124 104455090 +PA25741 26074 HGNC:15872 ENSG00000089101 cilia and flagella associated protein 61 CFAP61 chromosome 20 open reading frame 26, hypothetical protein LOC26074 C20orf26, CaM-IP3, DKFZP434K156, dJ1002M8.3 Yes No Ensembl:ENSG00000089101, GenAtlas:C20orf26, GeneCard:C20orf26, HGNC:HGNC:15872, HumanCyc Gene:HS01632, ModBase:Q9NQH4, NCBI Gene:26074, RefSeq DNA:NT_011387, RefSeq Protein:NP_001161288, RefSeq Protein:NP_056400, RefSeq RNA:NM_001167816, RefSeq RNA:NM_015585, UCSC Genome Browser:NM_015585, UniProtKB:Q8NHU2 No chr20 20033158 20341359 20052514 20360714 +PA145008681 255101 HGNC:25325 ENSG00000181378 cilia and flagella associated protein 65 CFAP65 coiled-coil domain containing 108 CCDC108, DKFZp434O0527, MGC35338 Yes No Ensembl:ENSG00000181378, GeneCard:CCDC108, HGNC:HGNC:25325, ModBase:Q6ZU64, NCBI Gene:255101, RefSeq DNA:NT_005403, RefSeq Protein:NP_689602, RefSeq Protein:NP_919278, RefSeq RNA:NM_152389, RefSeq RNA:NM_194302, UniProtKB:Q49A14, UniProtKB:Q4ZFW9, UniProtKB:Q6ZU64, UniProtKB:Q8N0T4 No chr2 219867568 219906273 219002846 219043142 +PA25477 64776 HGNC:1163 ENSG00000137720 cilia and flagella associated protein 68 CFAP68 chromosome 11 open reading frame 1 C11orf1, FLJ23499 Yes No Ensembl:ENSG00000137720, GenAtlas:C11orf1, GeneCard:C11orf1, HGNC:HGNC:1163, HumanCyc Gene:HS13692, NCBI Gene:64776, RefSeq DNA:NT_033899, RefSeq Protein:NP_073598, RefSeq RNA:NM_022761, UCSC Genome Browser:NM_022761, UniProtKB:Q9H5F2 No chr11 111749948 111754798 111879190 111884083 +PA162380735 79846 HGNC:26107 ENSG00000105792 cilia and flagella associated protein 69 CFAP69 chromosome 7 open reading frame 63, flagellar protein 69 homolog (Chlamydomonas), hypothetical protein FLJ21062 C7orf63, FAP69, FLJ21062 Yes No Ensembl:ENSG00000105792, GeneCard:C7orf63, HGNC:HGNC:26107, HumanCyc Gene:HS12609, NCBI Gene:79846, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001034795, RefSeq Protein:NP_001153610, RefSeq RNA:NM_001039706, RefSeq RNA:NM_001160138, UniProtKB:A5D8W1 No chr7 89874488 89940377 90245174 90320964 +PA134881300 118491 HGNC:30726 ENSG00000156042 cilia and flagella associated protein 70 CFAP70 tetratricopeptide repeat domain 18 FLJ25765, TTC18 Yes No Ensembl:ENSG00000156042, GeneCard:TTC18, HGNC:HGNC:30726, HumanCyc Gene:HS14600, ModBase:Q8NI31, NCBI Gene:118491, RefSeq DNA:NT_030059, RefSeq Protein:NP_660153, RefSeq RNA:NM_145170, UniProtKB:Q5T0N1 No chr10 75013516 75119425 73253758 73361064 +PA165512456 387885 HGNC:37100 ENSG00000186710 cilia and flagella associated protein 73 CFAP73 coiled-coil domain containing 42B CCDC42B, MIA2 Yes No Ensembl:ENSG00000186710, GeneCard:CCDC42B, HGNC:HGNC:37100, NCBI Gene:387885, RefSeq DNA:NT_009775, RefSeq Protein:NP_001138344, RefSeq RNA:NM_001144872 No chr12 113587543 113597081 113149162 113159276 +PA142671598 85452 HGNC:29368 ENSG00000142609 cilia and flagella associated protein 74 CFAP74 C1orf222, FLJ45476, KIAA1751 Yes No Ensembl:ENSG00000142609, GeneCard:KIAA1751, HGNC:HGNC:29368, ModBase:Q9C0B2, NCBI Gene:85452, RefSeq DNA:NT_004350, RefSeq Protein:NP_001073953, RefSeq RNA:NM_001080484, UniProtKB:Q9C0B2 No chr1 1853390 1935276 1921951 2003837 +PA164717530 389799 HGNC:33776 ENSG00000188523 cilia and flagella associated protein 77 CFAP77 chromosome 9 open reading frame 171 C9orf171, FLJ46082 Yes No Ensembl:ENSG00000188523, GeneCard:C9orf171, HGNC:HGNC:33776, NCBI Gene:389799, RefSeq DNA:NT_035014, RefSeq Protein:NP_997300, RefSeq RNA:NM_207417, UniProtKB:Q6ZQR2 No chr9 135285430 135448734 132410043 132573319 +PA162380347 134121 HGNC:27028 ENSG00000215217 cilia and flagella associated protein 90 CFAP90 chromosome 5 open reading frame 49 C5orf49, LOC134121 Yes No Ensembl:ENSG00000215217, GeneCard:C5orf49, HGNC:HGNC:27028, NCBI Gene:134121, RefSeq DNA:NT_006576, RefSeq Protein:NP_001083053, RefSeq RNA:NM_001089584, UniProtKB:A4QMS7 No chr5 7830491 7851603 7830378 7851490 +PA166352392 89876 HGNC:24010 cilia and flagella associated protein 91 CFAP91 AMY-1-associating protein expressed in testis 1, C3orf15, MAATS1, MYCBP-binding protein, spermatogenesis associated 26 AAT-1, AAT1, AAT1alpha, CaM-IP2, SPATA26 Yes No HGNC:HGNC:24010, NCBI Gene:89876 No 0 0 0 0 +PA142671603 57501 HGNC:29231 cilia and flagella associated protein 92 (putative) CFAP92 FAP92, FLJ43738, KIAA1257 Yes No GeneCard:KIAA1257, HGNC:HGNC:29231, ModBase:Q9ULG3, NCBI Gene:57501, RefSeq DNA:NT_005612, RefSeq Protein:NP_065792, RefSeq RNA:NM_020741, UniProtKB:Q9ULG3 No chr3 128689779 128719915 128910186 129032431 +PA166352393 138255 HGNC:31422 cilia and flagella associated protein 95 CFAP95 C9orf135 Yes No HGNC:HGNC:31422, NCBI Gene:138255 No 0 0 0 0 +PA162379983 441054 HGNC:34346 ENSG00000205129 cilia and flagella associated protein 96 CFAP96 chromosome 4 open reading frame 47 C4orf47, LOC441054 Yes No Ensembl:ENSG00000205129, GeneCard:C4orf47, HGNC:HGNC:34346, ModBase:A7E2U8, NCBI Gene:441054, RefSeq DNA:NT_016354, RefSeq Protein:NP_001107829, RefSeq RNA:NM_001114357, UniProtKB:A7E2U8 No chr4 186347220 186370982 185405227 185449828 +PA134887257 57587 HGNC:29276 ENSG00000164323 cilia and flagella associated protein 97 CFAP97 DKFZp434F1728, KIAA1430, hmw Yes No Ensembl:ENSG00000164323, GeneCard:KIAA1430, HGNC:HGNC:29276, ModBase:Q9P2B7, NCBI Gene:57587, RefSeq DNA:NT_016354, RefSeq Protein:NP_065878, RefSeq RNA:NM_020827, UniProtKB:Q9P2B7 No chr4 186080815 186125182 185159662 185210251 +PA165431514 284067 HGNC:37241 ENSG00000231256 CFAP97 domain containing 1 CFAP97D1 chromosome 17 open reading frame 105 C17orf105 Yes No Ensembl:ENSG00000231256, GeneCard:C17orf105, HGNC:HGNC:37241, NCBI Gene:284067, RefSeq DNA:NT_010783, RefSeq Protein:NP_001129955, RefSeq RNA:NM_001136483, UniProtKB:B2RV13 No chr17 41857803 41862054 43778391 43784842 +PA166180592 101929355 HGNC:53789 ENSG00000283361 CFAP97 domain containing 2 CFAP97D2 Yes No Ensembl:ENSG00000283361, HGNC:HGNC:53789, NCBI Gene:101929355 No 0 0 0 0 +PA166123677 402160 HGNC:51180 ENSG00000206113 cilia and flagella associated protein 99 CFAP99 Yes No Ensembl:ENSG00000206113, HGNC:HGNC:51180, NCBI Gene:402160 No +PA25341 629 HGNC:1037 ENSG00000239754, ENSG00000241534, ENSG00000242335, ENSG00000243570, ENSG00000243649 complement factor B CFB properdin B, properdin factor B BF, BFD, H2-Bf Yes Yes Comparative Toxicogenomics Database:629, Ensembl:ENSG00000239754, Ensembl:ENSG00000241534, Ensembl:ENSG00000242335, Ensembl:ENSG00000243570, Ensembl:ENSG00000243649, GenAtlas:CFB, GeneCard:CFB, HGNC:HGNC:1037, HumanCyc Gene:HS09369, HumanCyc Gene:HS11457, ModBase:P00751, NCBI Gene:629, OMIM:138470, OMIM:603075, OMIM:612924, RefSeq DNA:NG_000013, RefSeq DNA:NG_004658, RefSeq DNA:NG_005163, RefSeq DNA:NG_008191, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001701, RefSeq RNA:NM_001710, UCSC Genome Browser:NM_001710, UniProtKB:P00751 No chr6 31913721 31919861 31945944 31952084 +PA134916180 55997 HGNC:18292 ENSG00000136698 cryptic, EGF-CFC family member 1 CFC1 cripto, FRL-1, cryptic family 1 CRYPTIC, HTX2 Yes No Comparative Toxicogenomics Database:55997, Ensembl:ENSG00000136698, GeneCard:CFC1, HGNC:HGNC:18292, HumanCyc Gene:HS06200, HumanCyc Gene:HS07791, ModBase:Q9GZR3, NCBI Gene:55997, OMIM:217095, OMIM:605194, OMIM:605376, RefSeq DNA:NG_008148, RefSeq DNA:NT_022135, RefSeq Protein:NP_115934, RefSeq RNA:NM_032545, UniProtKB:P0CG37 No chr2 131349738 131357148 130592165 130599575 +PA162382207 653275 HGNC:33983 ENSG00000152093 cryptic, EGF-CFC family member 1B CFC1B cripto, FRL-1, cryptic family 1B Yes No Ensembl:ENSG00000152093, GeneCard:CFC1B, HGNC:HGNC:33983, NCBI Gene:653275, RefSeq DNA:NT_022135, RefSeq Protein:NP_001072998, RefSeq RNA:NM_001079530, UniProtKB:P0CG36 No chr2 131278667 131285565 130521094 130527992 +PA142 1675 HGNC:2771 ENSG00000197766 complement factor D CFD adipsin, complement factor D (adipsin) ADN, DF, PFD Yes No Comparative Toxicogenomics Database:1675, Ensembl:ENSG00000197766, GenAtlas:CFD, GeneCard:CFD, HGNC:HGNC:2771, HumanCyc Gene:HS11198, ModBase:P00746, NCBI Gene:1675, OMIM:134350, RefSeq DNA:NG_007274, RefSeq DNA:NT_011255, RefSeq Protein:NP_001919, RefSeq RNA:NM_001928, UCSC Genome Browser:NM_001928, UniProtKB:P00746 No chr19 859665 863624 859659 863569 +PA26422 10428 HGNC:1873 ENSG00000153774 craniofacial development protein 1 CFDP1 Bucentaur, centromere protein 29 BCNT, CENP-29, CP27, SWC5, Yeti, p97 Yes No Comparative Toxicogenomics Database:10428, Ensembl:ENSG00000153774, GenAtlas:CFDP1, GeneCard:CFDP1, HGNC:HGNC:1873, HumanCyc Gene:HS14482, ModBase:Q9UEE9, NCBI Gene:10428, OMIM:608108, RefSeq DNA:NT_010498, RefSeq Protein:NP_006315, RefSeq RNA:NM_006324, UCSC Genome Browser:NM_006324, UniProtKB:Q9UEE9 No chr16 75327608 75467387 75293710 75433512 +PA29261 3075 HGNC:4883 ENSG00000000971 complement factor H CFH H factor 2 (complement), age-related maculopathy susceptibility 1, beta-1H ARMD4, ARMS1, FHL1, HF, HF1, HF2, HUS Yes Yes Comparative Toxicogenomics Database:3075, Ensembl:ENSG00000000971, GenAtlas:CFH, GeneCard:CFH, HGNC:HGNC:4883, HumanCyc Gene:HS00069, NCBI Gene:3075, OMIM:126700, OMIM:134370, OMIM:235400, OMIM:609814, OMIM:610698, RefSeq DNA:NG_007259, RefSeq DNA:NT_004487, RefSeq Protein:NP_000177, RefSeq Protein:NP_001014975, RefSeq RNA:NM_000186, RefSeq RNA:NM_001014975, UCSC Genome Browser:NM_000186, UniProtKB:P08603 No chr1 196621008 196716634 196651878 196747504 +PA29265 3078 HGNC:4888 ENSG00000244414 complement factor H related 1 CFHR1 complement factor H-related 1 CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, H36-1, H36-2, HFL1, HFL2 Yes No Comparative Toxicogenomics Database:3078, Ensembl:ENSG00000244414, GenAtlas:CFHR1, GeneCard:CFHR1, HGNC:HGNC:4888, HumanCyc Gene:HS01376, ModBase:Q03591, NCBI Gene:3078, OMIM:134371, OMIM:235400, OMIM:603075, RefSeq DNA:NG_005811, RefSeq DNA:NG_013060, RefSeq DNA:NT_004487, RefSeq Protein:NP_002104, RefSeq RNA:NM_002113, UCSC Genome Browser:NM_002113, UniProtKB:Q03591 No chr1 196788861 196801319 196819730 196832189 +PA29267 3080 HGNC:4890 ENSG00000080910 complement factor H related 2 CFHR2 complement factor H-related 2 CFHL2, FHR2, HFL3 Yes No Ensembl:ENSG00000080910, GenAtlas:CFHR2, GeneCard:CFHR2, HGNC:HGNC:4890, HumanCyc Gene:HS05866, ModBase:P36980, NCBI Gene:3080, OMIM:600889, RefSeq DNA:NT_004487, RefSeq Protein:NP_005657, RefSeq RNA:NM_005666, UCSC Genome Browser:NM_005666, UniProtKB:P36980 No chr1 196912888 196928356 196943752 196959328 +PA134909646 10878 HGNC:16980 ENSG00000116785 complement factor H related 3 CFHR3 complement factor H related 3, complement factor H-related 3 CFHL3, DOWN16, FHR-3, FHR3, HLF4 Yes No Ensembl:ENSG00000116785, GeneCard:CFHR3, HGNC:HGNC:16980, HumanCyc Gene:HS04053, ModBase:Q02985, NCBI Gene:10878, OMIM:235400, OMIM:603075, OMIM:605336, RefSeq DNA:NG_005811, RefSeq DNA:NG_015993, RefSeq DNA:NT_004487, RefSeq Protein:NP_001160096, RefSeq Protein:NP_066303, RefSeq RNA:NM_001166624, RefSeq RNA:NM_021023, UniProtKB:B4DPR0, UniProtKB:Q02985 No chr1 196743925 196763203 196774800 196794073 +PA134960382 10877 HGNC:16979 ENSG00000134365 complement factor H related 4 CFHR4 complement factor H related 4, complement factor H-related 4 CFHL4, FHR-4, FHR4 Yes Yes Ensembl:ENSG00000134365, GeneCard:CFHR4, HGNC:HGNC:16979, HumanCyc Gene:HS05861, ModBase:Q92496, NCBI Gene:10877, OMIM:605337, RefSeq DNA:NG_005811, RefSeq DNA:NT_004487, RefSeq Protein:NP_001188479, RefSeq Protein:NP_001188480, RefSeq Protein:NP_006675, RefSeq RNA:NM_001201550, RefSeq RNA:NM_001201551, RefSeq RNA:NM_006684, UniProtKB:Q92496 No chr1 196857144 196887843 196888014 196918911 +PA134937417 81494 HGNC:24668 ENSG00000134389 complement factor H related 5 CFHR5 complement factor H-related 5, factor H related protein 5 CFHL5, FHR-5, FHR5 Yes No Ensembl:ENSG00000134389, GeneCard:CFHR5, HGNC:HGNC:24668, HumanCyc Gene:HS05865, ModBase:Q9BXR6, NCBI Gene:81494, OMIM:608593, RefSeq DNA:NG_016365, RefSeq DNA:NT_004487, RefSeq Protein:NP_110414, RefSeq RNA:NM_030787, UniProtKB:Q9BXR6 No chr1 196946667 196978804 196975022 197009725 +PA29641 3426 HGNC:5394 ENSG00000205403 complement factor I CFI C3b-inactivator, Konglutinogen-activating factor C3b-INA, FI, IF, KAF Yes Yes Comparative Toxicogenomics Database:3426, Ensembl:ENSG00000205403, GenAtlas:CFI, GeneCard:CFI, HGNC:HGNC:5394, HumanCyc Gene:HS06565, ModBase:P05156, NCBI Gene:3426, OMIM:217030, OMIM:235400, OMIM:610984, OMIM:612923, RefSeq DNA:NG_007569, RefSeq DNA:NT_016354, RefSeq Protein:NP_000195, RefSeq RNA:NM_000204, UCSC Genome Browser:NM_000204, UniProtKB:A8K3L0, UniProtKB:P05156 No chr4 110661848 110723381 109731221 109802225 +PA26423 1072 HGNC:1874 ENSG00000172757 cofilin 1 CFL1 cofilin 1 (non-muscle) CFL Yes No Comparative Toxicogenomics Database:1072, Ensembl:ENSG00000172757, GenAtlas:CFL1, GeneCard:CFL1, HGNC:HGNC:1874, HumanCyc Gene:HS10563, ModBase:P23528, NCBI Gene:1072, OMIM:601442, RefSeq DNA:NT_167190, RefSeq Protein:NP_005498, RefSeq RNA:NM_005507, UCSC Genome Browser:NM_005507, UniProtKB:P23528 No chr11 65622282 65625804 65854811 65858333 +PA134934679 142913 HGNC:28560 ENSG00000223820 cofilin 1 (non-muscle) pseudogene 1 CFL1P1 MGC35136 Yes No Ensembl:ENSG00000223820, GeneCard:CFL1P1, HGNC:HGNC:28560, NCBI Gene:142913, RefSeq DNA:NG_004788, RefSeq DNA:NT_030059, RefSeq RNA:NR_028492 No chr10 89578070 89605369 87818313 87845612 +PA26427 391039 HGNC:1878 cofilin-like 2 CFL1P2 Yes No GenAtlas:CFLL2, GeneCard:CFLL2, HGNC:HGNC:1878, NCBI Gene:391039 No chr1 51623117 51624212 51157440 51158540 +PA26428 100131874 HGNC:1879 cofilin-like 3 CFL1P3 Yes No GenAtlas:CFLL3, GeneCard:CFLL3, HGNC:HGNC:1879, NCBI Gene:100131874 No chr1 64308662 64309478 63842791 63843807 +PA26429 645980 HGNC:1880 cofilin-like 4 CFL1P4 Yes No GenAtlas:CFLL4, GeneCard:CFLL4, HGNC:HGNC:1880, NCBI Gene:645980 No chr1 242156508 242157185 241993206 241993883 +PA26426 1074 HGNC:1877 ENSG00000213830 cofilin 1 (non-muscle) pseudogene 5 CFL1P5 Yes No Ensembl:ENSG00000213830, GenAtlas:CFLL1, GeneCard:CFL1P5, HGNC:HGNC:1877, NCBI Gene:1074, RefSeq DNA:NT_006713 No chr5 68608686 68609780 69312859 69313953 +PA26424 1073 HGNC:1875 ENSG00000165410 cofilin 2 CFL2 cofilin 2 (muscle), nemaline myopathy type 7 NEM7 Yes No Comparative Toxicogenomics Database:1073, Ensembl:ENSG00000165410, GenAtlas:CFL2, GeneCard:CFL2, HGNC:HGNC:1875, HumanCyc Gene:HS09227, ModBase:Q9Y281, NCBI Gene:1073, OMIM:601443, OMIM:610687, RefSeq DNA:NG_012740, RefSeq DNA:NT_026437, RefSeq Protein:NP_068733, RefSeq Protein:NP_619579, RefSeq RNA:NM_021914, RefSeq RNA:NM_138638, RefSeq RNA:NR_028130, RefSeq RNA:NR_028131, RefSeq RNA:NR_028132, UCSC Genome Browser:NM_021914, UniProtKB:Q549N0, UniProtKB:Q9Y281 No chr14 35179588 35184029 34710382 34714823 +PA26425 8837 HGNC:1876 ENSG00000003402 CASP8 and FADD like apoptosis regulator CFLAR CASP8 and FADD-like apoptosis regulator CASH, CASP8AP1, CLARP, Casper, FLAME, FLIP, I-FLICE, MRIT, c-FLIP, cFLIP Yes Yes Comparative Toxicogenomics Database:8837, Ensembl:ENSG00000003402, GenAtlas:CFLAR, GeneCard:CFLAR, HGNC:HGNC:1876, HumanCyc Gene:HS00094, ModBase:O43618, NCBI Gene:8837, OMIM:603599, RefSeq DNA:NT_005403, RefSeq Protein:NP_001120655, RefSeq Protein:NP_001120656, RefSeq Protein:NP_001189444, RefSeq Protein:NP_001189445, RefSeq Protein:NP_001189446, RefSeq Protein:NP_001189447, RefSeq Protein:NP_001189448, RefSeq Protein:NP_003870, RefSeq RNA:NM_001127183, RefSeq RNA:NM_001127184, RefSeq RNA:NM_001202515, RefSeq RNA:NM_001202516, RefSeq RNA:NM_001202517, RefSeq RNA:NM_001202518, RefSeq RNA:NM_001202519, RefSeq RNA:NM_003879, UCSC Genome Browser:NM_003879, UniProtKB:O15519 No chr2 201980877 202037411 201116015 201172688 +PA24733 65072 HGNC:14437 ENSG00000226312 CFLAR antisense RNA 1 CFLAR-AS1 Yes No Ensembl:ENSG00000226312, GenAtlas:ALS2CR10, GeneCard:ALS2CR10, HGNC:HGNC:14437, NCBI Gene:65072, RefSeq RNA:NR_040030 No chr2 202004881 202022515 201140289 201157792 +PA33206 5199 HGNC:8864 ENSG00000126759 complement factor properdin CFP PFC Yes No Comparative Toxicogenomics Database:5199, Ensembl:ENSG00000126759, GenAtlas:CFP, GeneCard:CFP, HGNC:HGNC:8864, HumanCyc Gene:HS05044, ModBase:P27918, NCBI Gene:5199, OMIM:300383, OMIM:312060, RefSeq DNA:NG_009893, RefSeq DNA:NT_079573, RefSeq Protein:NP_001138724, RefSeq Protein:NP_002612, RefSeq RNA:NM_001145252, RefSeq RNA:NM_002621, UCSC Genome Browser:NM_002621, UniProtKB:P27918 No chrX 47483612 47489704 47624213 47630305 +PA109 1080 HGNC:1884 ENSG00000001626 CF transmembrane conductance regulator CFTR """ATP-binding cassette sub-family C, member 7"", ""cystic fibrosis transmembrane conductance regulator"", ""cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)""" ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1 Yes Yes Comparative Toxicogenomics Database:1080, Ensembl:ENSG00000001626, GenAtlas:CFTR, GeneCard:CFTR, HGNC:HGNC:1884, HumanCyc Gene:HS00075, ModBase:P13569, NCBI Gene:1080, OMIM:167800, OMIM:219700, OMIM:277180, OMIM:602421, RefSeq DNA:NG_016465, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_000483, RefSeq RNA:NM_000492, UCSC Genome Browser:NM_000492, UniProtKB:P13569 Yes chr7 117120017 117308719 117478367 117668665 +PA25731 140871 HGNC:16182 ENSG00000228593 cystic fibrosis transmembrane conductance regulator pseudogene 1 CFTRP1 dJ760C5.1 Yes No Ensembl:ENSG00000228593, GenAtlas:C20orf189, GeneCard:CFTRP1, HGNC:HGNC:16182, NCBI Gene:140871, RefSeq DNA:NG_002787, RefSeq DNA:NT_011387 No chr20 25900036 25900418 25919400 25919782 +PA26433 1081 HGNC:1885 ENSG00000135346 glycoprotein hormones, alpha polypeptide CGA """chorionic gonadotropin, alpha polypeptide"", ""follicle-stimulating hormone alpha subunit"", ""glycoprotein hormones alpha chain"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain""" FSHA, GPA1, GPHA1, GPHa, HCG, LHA, TSHA Yes No Comparative Toxicogenomics Database:1081, Ensembl:ENSG00000135346, GenAtlas:CGA, GeneCard:CGA, HGNC:HGNC:1885, HumanCyc Gene:HS05985, NCBI Gene:1081, OMIM:118850, RefSeq DNA:NT_007299, RefSeq Protein:NP_000726, RefSeq RNA:NM_000735, UCSC Genome Browser:NM_000735, UniProtKB:P01215, UniProtKB:Q6I9S8 No chr6 87795216 87804865 87085498 87095147 +PA134956015 115004 HGNC:21367 ENSG00000164430 cyclic GMP-AMP synthase CGAS DANGER family member 4, Mab-21 domain containing 1 C6orf150, D4, MB21D1, cGAS, h-cGAS Yes No Ensembl:ENSG00000164430, GeneCard:C6orf150, HGNC:HGNC:21367, ModBase:Q8N884, NCBI Gene:115004, RefSeq DNA:NT_007299, RefSeq Protein:NP_612450, RefSeq RNA:NM_138441, UniProtKB:Q8N884 No chr6 74134856 74162043 73423711 73452330 +PA26435 114335 HGNC:16721 ENSG00000267631 chorionic gonadotropin subunit beta 1 CGB1 chorionic gonadotropin, beta polypeptide 1 Yes No Ensembl:ENSG00000267631, GenAtlas:CGB1, GeneCard:CGB1, HGNC:HGNC:16721, HumanCyc Gene:HS02629, NCBI Gene:114335, OMIM:608823, RefSeq DNA:NG_000019, RefSeq DNA:NT_011109, RefSeq Protein:NP_203695, RefSeq RNA:NM_033377, UCSC Genome Browser:NM_033377, UniProtKB:A6NKQ9 No chr19 49538826 49540191 49035569 49036934 +PA26436 114336 HGNC:16722 ENSG00000104818 chorionic gonadotropin subunit beta 2 CGB2 chorionic gonadotropin, beta polypeptide 2 Yes No Ensembl:ENSG00000104818, GenAtlas:CGB2, GeneCard:CGB2, HGNC:HGNC:16722, NCBI Gene:114336, OMIM:608824, RefSeq DNA:NG_000019, RefSeq DNA:NT_011109, RefSeq Protein:NP_203696, RefSeq RNA:NM_033378, UCSC Genome Browser:NM_033378 No chr19 49535130 49536495 49031873 49033238 +PA26434 1082 HGNC:1886 ENSG00000104827, ENSG00000189052, ENSG00000213030 chorionic gonadotropin subunit beta 3 CGB3 chorionic gonadotropin, beta polypeptide CGB, CGB3 Yes No Comparative Toxicogenomics Database:1082, Ensembl:ENSG00000104827, Ensembl:ENSG00000189052, Ensembl:ENSG00000213030, GenAtlas:CGB, GeneCard:CGB, HGNC:HGNC:1886, NCBI Gene:1082, OMIM:118860, RefSeq DNA:NG_000019, RefSeq DNA:NT_011109, RefSeq Protein:NP_000728, RefSeq RNA:NM_000737, UCSC Genome Browser:NM_000737 No chr19 49526126 49527632 49022869 49024375 +PA26437 93659 HGNC:16452 ENSG00000104827, ENSG00000189052, ENSG00000213030 chorionic gonadotropin subunit beta 5 CGB5 chorionic gonadotropin, beta polypeptide 5 HCG Yes No Ensembl:ENSG00000104827, Ensembl:ENSG00000189052, Ensembl:ENSG00000213030, GenAtlas:CGB5, GeneCard:CGB5, HGNC:HGNC:16452, NCBI Gene:93659, OMIM:608825, RefSeq DNA:NG_000019, RefSeq DNA:NT_011109, RefSeq Protein:NP_149032, RefSeq RNA:NM_033043, UCSC Genome Browser:NM_033043 No chr19 49547102 49548568 49043845 49045311 +PA26438 94027 HGNC:16451 ENSG00000196337 chorionic gonadotropin subunit beta 7 CGB7 chorionic gonadotropin, beta polypeptide 7 CG-beta-a Yes No Ensembl:ENSG00000196337, GenAtlas:CGB7, GeneCard:CGB7, HGNC:HGNC:16451, NCBI Gene:94027, OMIM:608826, RefSeq DNA:NG_000019, RefSeq DNA:NT_011109, RefSeq Protein:NP_149133, RefSeq RNA:NM_033142, UCSC Genome Browser:NM_033142 No chr19 49557531 49561603 49054274 49058346 +PA26439 94115 HGNC:16453 ENSG00000213030 chorionic gonadotropin subunit beta 8 CGB8 chorionic gonadotropin, beta polypeptide 8 Yes No Ensembl:ENSG00000213030, GenAtlas:CGB8, GeneCard:CGB8, HGNC:HGNC:16453, HumanCyc Gene:HS02624, HumanCyc Gene:HS09618, ModBase:Q8WXL3, NCBI Gene:94115, OMIM:608827, RefSeq DNA:NG_000019, RefSeq DNA:NT_011109, RefSeq Protein:NP_149439, RefSeq RNA:NM_033183, UCSC Genome Browser:NM_033183, UniProtKB:P01233 No chr19 49550895 49552368 49047638 49049111 +PA26441 8545 HGNC:1888 ENSG00000163320 CGG triplet repeat binding protein 1 CGGBP1 p20-CGG binding protein CGGBP, p20-CGGBP Yes No Ensembl:ENSG00000163320, GenAtlas:CGGBP1, GeneCard:CGGBP1, HGNC:HGNC:1888, HumanCyc Gene:HS08827, NCBI Gene:8545, OMIM:603363, RefSeq DNA:NT_022459, RefSeq Protein:NP_001008391, RefSeq Protein:NP_001182237, RefSeq Protein:NP_003654, RefSeq RNA:NM_001008390, RefSeq RNA:NM_001195308, RefSeq RNA:NM_003663, UCSC Genome Browser:NM_003663, UniProtKB:Q9UFW8 No chr3 88101100 88199016 88051950 88149866 +PA134938123 57530 HGNC:17429 ENSG00000143375 cingulin CGN KIAA1319 Yes No Ensembl:ENSG00000143375, GeneCard:CGN, HGNC:HGNC:17429, HumanCyc Gene:HS13961, ModBase:Q9P2M7, NCBI Gene:57530, OMIM:609473, RefSeq DNA:NT_004487, RefSeq Protein:NP_065821, RefSeq RNA:NM_020770, UniProtKB:Q9P2M7 No chr1 151483331 151511168 151510859 151538692 +PA134972287 84952 HGNC:25931 ENSG00000128849 cingulin like 1 CGNL1 cingulin-like 1, junction-associated coiled-coil protein FLJ14957, JACOP, KIAA1749, PCING, paracingulin Yes No Comparative Toxicogenomics Database:84952, Ensembl:ENSG00000128849, GeneCard:CGNL1, HGNC:HGNC:25931, HumanCyc Gene:HS13279, ModBase:Q0VF96, NCBI Gene:84952, OMIM:607856, RefSeq DNA:NT_010194, RefSeq Protein:NP_116255, RefSeq RNA:NM_032866, UniProtKB:Q0VF96 No chr15 57668703 57842925 57376487 57550727 +PA134984105 10669 HGNC:16962 ENSG00000138028 cell growth regulator with EF-hand domain 1 CGREF1 CGR11 Yes No Comparative Toxicogenomics Database:10669, Ensembl:ENSG00000138028, GeneCard:CGREF1, HGNC:HGNC:16962, HumanCyc Gene:HS06435, ModBase:Q99674, NCBI Gene:10669, OMIM:606137, RefSeq DNA:NT_022184, RefSeq Protein:NP_001159711, RefSeq Protein:NP_001159712, RefSeq Protein:NP_001159713, RefSeq Protein:NP_006560, RefSeq RNA:NM_001166239, RefSeq RNA:NM_001166240, RefSeq RNA:NM_001166241, RefSeq RNA:NM_006569, UniProtKB:B4DXY8, UniProtKB:B5MCB7, UniProtKB:B5MCP5, UniProtKB:Q99674 No chr2 27322159 27341995 27099353 27119127 +PA134985671 10668 HGNC:15528 ENSG00000100532 cell growth regulator with ring finger domain 1 CGRRF1 CGR19, RNF197 Yes No Comparative Toxicogenomics Database:10668, Ensembl:ENSG00000100532, GeneCard:CGRRF1, HGNC:HGNC:15528, HumanCyc Gene:HS02106, ModBase:Q99675, NCBI Gene:10668, OMIM:606138, RefSeq DNA:NT_026437, RefSeq Protein:NP_006559, RefSeq RNA:NM_006568, UniProtKB:Q99675 No chr14 54976587 55005334 54509869 54539310 +PA26443 9023 HGNC:1907 ENSG00000138135 cholesterol 25-hydroxylase CH25H Yes No Comparative Toxicogenomics Database:9023, Ensembl:ENSG00000138135, GenAtlas:CH25H, GeneCard:CH25H, HGNC:HGNC:1907, HumanCyc Gene:HS06462, ModBase:O95992, NCBI Gene:9023, OMIM:604551, RefSeq DNA:NT_030059, RefSeq Protein:NP_003947, RefSeq RNA:NM_003956, UCSC Genome Browser:NM_003956, UniProtKB:O95992 No chr10 90965694 90967071 89205937 89207314 +PA142672119 79094 HGNC:28680 ENSG00000128965 ChaC glutathione specific gamma-glutamylcyclotransferase 1 CHAC1 """ChaC glutathione-specific gamma-glutamylcyclotransferase 1"", ""ChaC, cation transport regulator homolog 1 (E. coli)"", ""gamma-GCT acting on glutathione homolog 1""" MGC4504 Yes No Comparative Toxicogenomics Database:79094, Ensembl:ENSG00000128965, GeneCard:CHAC1, HGNC:HGNC:28680, HumanCyc Gene:HS13286, ModBase:Q9BUX1, NCBI Gene:79094, RefSeq DNA:NT_010194, RefSeq Protein:NP_001136248, RefSeq Protein:NP_077016, RefSeq RNA:NM_001142776, RefSeq RNA:NM_024111, UniProtKB:Q9BUX1 No chr15 41245636 41248717 40942135 40956519 +PA142672120 494143 HGNC:32363 ENSG00000143942 ChaC glutathione specific gamma-glutamylcyclotransferase 2 CHAC2 """ChaC cation transport regulator homolog 2"", ""ChaC, cation transport regulator homolog 2 (E. coli)"", ""gamma-GCT acting on glutathione homolog 2""" GCG1 Yes No Comparative Toxicogenomics Database:494143, Ensembl:ENSG00000143942, GeneCard:CHAC2, HGNC:HGNC:32363, ModBase:Q8WUX2, NCBI Gene:494143, RefSeq DNA:NT_022184, RefSeq Protein:NP_001008708, RefSeq RNA:NM_001008708, UniProtKB:Q8WUX2 No chr2 53994929 54002320 53767792 53775150 +PA26445 1101 HGNC:1909 ENSG00000136457 chondroadherin CHAD chondroadherin proteoglycan SLRR4A Yes No Comparative Toxicogenomics Database:1101, Ensembl:ENSG00000136457, GenAtlas:CHAD, GeneCard:CHAD, HGNC:HGNC:1909, HumanCyc Gene:HS06164, ModBase:O15335, NCBI Gene:1101, OMIM:602178, RefSeq DNA:NT_010783, RefSeq Protein:NP_001258, RefSeq RNA:NM_001267, UCSC Genome Browser:NM_001267, UniProtKB:O15335 No chr17 48541853 48547242 50464492 50469881 +PA162382224 150356 HGNC:25165 ENSG00000100399 chondroadherin like CHADL chondroadherin-like SLRR4B Yes No Ensembl:ENSG00000100399, GeneCard:CHADL, HGNC:HGNC:25165, ModBase:Q6NUI6, NCBI Gene:150356, RefSeq DNA:NT_011520, RefSeq Protein:NP_612490, RefSeq RNA:NM_138481, UniProtKB:Q6NUI6 No chr22 41605861 41636935 41209101 41241773 +PA26446 10036 HGNC:1910 ENSG00000167670 chromatin assembly factor 1 subunit A CHAF1A """chromatin assembly factor 1, subunit A (p150)"", ""chromatin assembly factor I (150 kDa)""" CAF-1, CAF1, CAF1B, CAF1P150, MGC71229, P150 Yes No Comparative Toxicogenomics Database:10036, Ensembl:ENSG00000167670, GenAtlas:CHAF1A, GeneCard:CHAF1A, HGNC:HGNC:1910, HumanCyc Gene:HS09604, ModBase:Q13111, NCBI Gene:10036, OMIM:601246, RefSeq DNA:NT_011255, RefSeq Protein:NP_005474, RefSeq RNA:NM_005483, UCSC Genome Browser:NM_005483, UniProtKB:Q13111 No chr19 4402660 4443394 4402596 4448322 +PA26447 8208 HGNC:1911 ENSG00000159259 chromatin assembly factor 1 subunit B CHAF1B """Chromatin assembly factor I, p60 subunit"", ""M-phase phosphoprotein 7"", ""chromatin assembly factor 1, subunit B (p60)"", ""human chromatin assembly factor-I p60 subunit""" CAF-1, CAF1, CAF1A, CAF1P60, MPHOSPH7, MPP7 Yes No Comparative Toxicogenomics Database:8208, Ensembl:ENSG00000159259, GenAtlas:CHAF1B, GeneCard:CHAF1B, HGNC:HGNC:1911, HumanCyc Gene:HS08383, ModBase:Q13112, NCBI Gene:8208, OMIM:601245, RefSeq DNA:NT_011512, RefSeq Protein:NP_005432, RefSeq RNA:NM_005441, UCSC Genome Browser:NM_005441, UniProtKB:Q13112 No chr21 37757689 37789125 36380145 36416827 +PA162410749 283489 HGNC:20311 ENSG00000198824 chromosome alignment maintaining phosphoprotein 1 CHAMP1 chromosome alignment-maintaining phosphoprotein C13orf8, CAMP, CHAMP, ZNF828 Yes No Ensembl:ENSG00000198824, GeneCard:ZNF828, HGNC:HGNC:20311, ModBase:Q96JM3, NCBI Gene:283489, RefSeq DNA:NT_024498, RefSeq Protein:NP_001157616, RefSeq Protein:NP_001157617, RefSeq Protein:NP_115812, RefSeq RNA:NM_001164144, RefSeq RNA:NM_001164145, RefSeq RNA:NM_032436, UniProtKB:Q96JM3 No chr13 115079965 115092803 114314490 114327328 +PA26448 1103 HGNC:1912 ENSG00000070748 choline O-acetyltransferase CHAT Yes Yes Comparative Toxicogenomics Database:1103, Ensembl:ENSG00000070748, GenAtlas:CHAT, GeneCard:CHAT, HGNC:HGNC:1912, HumanCyc Gene:HS01006, ModBase:P28329, NCBI Gene:1103, OMIM:118490, OMIM:254210, RefSeq DNA:NG_011797, RefSeq DNA:NT_030059, RefSeq Protein:NP_001136401, RefSeq Protein:NP_001136405, RefSeq Protein:NP_001136406, RefSeq Protein:NP_065574, RefSeq Protein:NP_066264, RefSeq Protein:NP_066265, RefSeq Protein:NP_066266, RefSeq RNA:NM_001142929, RefSeq RNA:NM_001142933, RefSeq RNA:NM_001142934, RefSeq RNA:NM_020549, RefSeq RNA:NM_020984, RefSeq RNA:NM_020985, RefSeq RNA:NM_020986, UCSC Genome Browser:NM_020549, UniProtKB:P28329, UniProtKB:Q6LEN5, UniProtKB:Q6LEN6 No chr10 50817141 50873150 49609095 49665104 +PA134964437 118487 HGNC:23518 ENSG00000172586 coiled-coil-helix-coiled-coil-helix domain containing 1 CHCHD1 C10orf34, FLJ25854, mS37 Yes No Ensembl:ENSG00000172586, GeneCard:CHCHD1, HGNC:HGNC:23518, ModBase:Q96BP2, NCBI Gene:118487, OMIM:608842, RefSeq DNA:NT_030059, RefSeq Protein:NP_976043, RefSeq RNA:NM_203298, UniProtKB:Q96BP2 No chr10 75541808 75543406 73782050 73783648 +PA162382225 400916 HGNC:15559 ENSG00000250479 coiled-coil-helix-coiled-coil-helix domain containing 10 CHCHD10 MIX17 homolog A C22orf16, MIX17A, N27C7-4 Yes No Ensembl:ENSG00000250479, GeneCard:CHCHD10, HGNC:HGNC:15559, NCBI Gene:400916, RefSeq DNA:NT_011520, RefSeq Protein:NP_998885, RefSeq RNA:NM_213720, UniProtKB:Q8WYQ3 No chr22 24108021 24110141 23765834 23767972 +PA134974636 51142 HGNC:21645 ENSG00000106153 coiled-coil-helix-coiled-coil-helix domain containing 2 CHCHD2 MIX17 homolog B, mitochondrial nuclear retrograde regulator 1 C7orf17, MIX17B, MNRR1 Yes No Comparative Toxicogenomics Database:51142, Ensembl:ENSG00000106153, GeneCard:CHCHD2, HGNC:HGNC:21645, HumanCyc Gene:HS12626, ModBase:Q9Y6H1, NCBI Gene:51142, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_057223, RefSeq RNA:NM_016139, UniProtKB:Q9Y6H1 No chr7 56169266 56174187 56101562 56106630 +PA142672122 645345 HGNC:23676 ENSG00000186940 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 9 CHCHD2P9 Yes No Ensembl:ENSG00000186940, GeneCard:CHCHD2P9, HGNC:HGNC:23676, NCBI Gene:645345, RefSeq DNA:NG_009939, RefSeq DNA:NT_008470 No chr9 82006182 82006955 79391267 79392035 +PA134983108 54927 HGNC:21906 ENSG00000106554 coiled-coil-helix-coiled-coil-helix domain containing 3 CHCHD3 """mitochondrial contact site and cristae organizing system subunit 19"", ""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22""" FLJ20420, MICOS19, MINOS3, Mic19, PPP1R22 Yes No Comparative Toxicogenomics Database:54927, Ensembl:ENSG00000106554, GeneCard:CHCHD3, HGNC:HGNC:21906, HumanCyc Gene:HS12635, ModBase:Q9NX63, NCBI Gene:54927, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_060282, RefSeq RNA:NM_017812, UniProtKB:A4D1N4, UniProtKB:Q9NX63 No chr7 132469623 132766839 132784862 133082158 +PA134990707 131474 HGNC:26467 ENSG00000163528 coiled-coil-helix-coiled-coil-helix domain containing 4 CHCHD4 mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae), translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae) FLJ31709, MIA40, TIMM40 Yes No Comparative Toxicogenomics Database:131474, Ensembl:ENSG00000163528, GeneCard:CHCHD4, HGNC:HGNC:26467, HumanCyc Gene:HS15075, ModBase:Q8N4Q1, NCBI Gene:131474, OMIM:611077, RefSeq DNA:NT_022517, RefSeq Protein:NP_001091972, RefSeq Protein:NP_653237, RefSeq RNA:NM_001098502, RefSeq RNA:NM_144636, UniProtKB:Q8N4Q1 No chr3 14153577 14166371 14112077 14124871 +PA25896 84269 HGNC:17840 ENSG00000125611 coiled-coil-helix-coiled-coil-helix domain containing 5 CHCHD5 mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae) C2orf9, MGC11104, MIC14, MIX14 Yes No Ensembl:ENSG00000125611, GenAtlas:CHCHD5, GeneCard:CHCHD5, HGNC:HGNC:17840, HumanCyc Gene:HS13167, NCBI Gene:84269, RefSeq DNA:NT_022135, RefSeq Protein:NP_115685, RefSeq RNA:NM_032309, UCSC Genome Browser:NM_032309, UniProtKB:Q585T4, UniProtKB:Q9BSY4 No chr2 113342023 113346617 112583606 112589040 +PA134899331 84303 HGNC:28184 ENSG00000159685 coiled-coil-helix-coiled-coil-helix domain containing 6 CHCHD6 """coiled-coil-helix cristae morphology 1"", ""mitochondrial contact site and cristae organizing system subunit 25"", ""protein phosphatase 1, regulatory subunit 23""" CHCM1, MGC13016, MICOS25, Mic25, PPP1R23 Yes No Comparative Toxicogenomics Database:84303, Ensembl:ENSG00000159685, GeneCard:CHCHD6, HGNC:HGNC:28184, HumanCyc Gene:HS14773, ModBase:Q9BRQ6, NCBI Gene:84303, RefSeq DNA:NT_005612, RefSeq Protein:NP_115719, RefSeq RNA:NM_032343, UniProtKB:Q9BRQ6 No chr3 126423063 126679263 126704220 126960420 +PA134883538 79145 HGNC:28314 ENSG00000170791 coiled-coil-helix-coiled-coil-helix domain containing 7 CHCHD7 COX23 cytochrome c oxidase assembly homolog (S. cerevisiae) COX23, MGC2217 Yes No Comparative Toxicogenomics Database:79145, Ensembl:ENSG00000170791, GeneCard:CHCHD7, HGNC:HGNC:28314, HumanCyc Gene:HS15915, ModBase:Q9BUK0, NCBI Gene:79145, OMIM:611238, RefSeq DNA:NT_008183, RefSeq Protein:NP_001011667, RefSeq Protein:NP_001011668, RefSeq Protein:NP_001011669, RefSeq Protein:NP_001011670, RefSeq Protein:NP_001011671, RefSeq Protein:NP_077276, RefSeq RNA:NM_001011667, RefSeq RNA:NM_001011668, RefSeq RNA:NM_001011669, RefSeq RNA:NM_001011670, RefSeq RNA:NM_001011671, RefSeq RNA:NM_024300, UniProtKB:Q9BUK0 No chr8 57124315 57131178 56211638 56218798 +PA142672247 124773 HGNC:26990 ENSG00000141371 CHD1 helical C-terminal domain containing 1 CHCT1 chromosome 17 open reading frame 64 C17orf64 Yes No Ensembl:ENSG00000141371, GeneCard:C17orf64, HGNC:HGNC:26990, NCBI Gene:124773, RefSeq DNA:NT_010783, RefSeq Protein:NP_859058, RefSeq RNA:NM_181707, UniProtKB:Q86WR6 No chr17 58498574 58508787 60421091 60431426 +PA26451 1105 HGNC:1915 ENSG00000153922 chromodomain helicase DNA binding protein 1 CHD1 Yes No Comparative Toxicogenomics Database:1105, Ensembl:ENSG00000153922, GenAtlas:CHD1, GeneCard:CHD1, HGNC:HGNC:1915, HumanCyc Gene:HS07930, ModBase:O14646, NCBI Gene:1105, OMIM:602118, RefSeq DNA:NT_034772, RefSeq Protein:NP_001261, RefSeq RNA:NM_001270, UCSC Genome Browser:NM_001270, UniProtKB:B3KT33, UniProtKB:O14646 No chr5 98189689 98264522 98855204 98929014 +PA26452 9557 HGNC:1916 ENSG00000131778 chromodomain helicase DNA binding protein 1 like CHD1L amplified in liver cancer 1, chromodomain helicase DNA binding protein 1-like ALC1 Yes No Comparative Toxicogenomics Database:9557, Ensembl:ENSG00000131778, GenAtlas:CHD1L, GeneCard:CHD1L, HGNC:HGNC:1916, HumanCyc Gene:HS05565, ModBase:Q96SP3, NCBI Gene:9557, OMIM:613039, RefSeq DNA:NT_167185, RefSeq Protein:NP_004275, RefSeq RNA:NM_004284, UCSC Genome Browser:NM_004284, UCSC Genome Browser:NM_024568, UniProtKB:Q86WJ1 No chr1 146714291 146767447 147172804 147295766 +PA26453 1106 HGNC:1917 ENSG00000173575 chromodomain helicase DNA binding protein 2 CHD2 DKFZp547I1315, DKFZp686E01200, DKFZp781D1727, FLJ38614 Yes Yes Comparative Toxicogenomics Database:1106, Ensembl:ENSG00000173575, GenAtlas:CHD2, GeneCard:CHD2, HGNC:HGNC:1917, HumanCyc Gene:HS10692, ModBase:O14647, NCBI Gene:1106, OMIM:602119, RefSeq DNA:NG_012826, RefSeq DNA:NT_010274, RefSeq Protein:NP_001036037, RefSeq Protein:NP_001262, RefSeq RNA:NM_001042572, RefSeq RNA:NM_001271, UCSC Genome Browser:NM_001271, UniProtKB:O14647, UniProtKB:Q96IP5 No chr15 93442286 93571237 92900321 93028007 +PA26454 1107 HGNC:1918 ENSG00000170004 chromodomain helicase DNA binding protein 3 CHD3 Mi-2a, Mi2-ALPHA, ZFH Yes No Comparative Toxicogenomics Database:1107, Ensembl:ENSG00000170004, GenAtlas:CHD3, GeneCard:CHD3, HGNC:HGNC:1918, HumanCyc Gene:HS10055, ModBase:Q12873, NCBI Gene:1107, OMIM:602120, RefSeq DNA:NT_010718, RefSeq Protein:NP_001005271, RefSeq Protein:NP_001005273, RefSeq Protein:NP_005843, RefSeq RNA:NM_001005271, RefSeq RNA:NM_001005273, RefSeq RNA:NM_005852, UCSC Genome Browser:NM_001272, UniProtKB:B3KWV4, UniProtKB:Q12873, UniProtKB:Q2TAZ1 No chr17 7788096 7816075 7884764 7912757 +PA26455 1108 HGNC:1919 ENSG00000111642 chromodomain helicase DNA binding protein 4 CHD4 Mi-2b, Mi2-BETA Yes No Comparative Toxicogenomics Database:1108, Ensembl:ENSG00000111642, GenAtlas:CHD4, GeneCard:CHD4, HGNC:HGNC:1919, HumanCyc Gene:HS03435, ModBase:Q14839, NCBI Gene:1108, OMIM:603277, RefSeq DNA:NT_009759, RefSeq Protein:NP_001264, RefSeq RNA:NM_001273, UCSC Genome Browser:NM_001273, UniProtKB:B3KY63, UniProtKB:Q05CG6, UniProtKB:Q14839 No chr12 6679248 6716551 6570082 6607439 +PA134969178 26038 HGNC:16816 ENSG00000116254 chromodomain helicase DNA binding protein 5 CHD5 Yes No Ensembl:ENSG00000116254, GeneCard:CHD5, HGNC:HGNC:16816, HumanCyc Gene:HS04001, ModBase:Q8TDI0, NCBI Gene:26038, OMIM:610771, RefSeq DNA:NT_021937, RefSeq Protein:NP_056372, RefSeq RNA:NM_015557, UniProtKB:Q8TDI0 No chr1 6161847 6240194 6101787 6180134 +PA134974700 84181 HGNC:19057 ENSG00000124177 chromodomain helicase DNA binding protein 6 CHD6 CHD5, FLJ22369, KIAA1335, RIGB, dJ620E11.1 Yes No Ensembl:ENSG00000124177, GeneCard:CHD6, HGNC:HGNC:19057, HumanCyc Gene:HS04728, ModBase:Q9H6D4, NCBI Gene:84181, RefSeq DNA:NT_011362, RefSeq Protein:NP_115597, RefSeq RNA:NM_032221, UniProtKB:Q8TD26 No chr20 40030741 40247133 41402101 41618494 +PA134948695 55636 HGNC:20626 ENSG00000171316 chromodomain helicase DNA binding protein 7 CHD7 CRG, FLJ20357, FLJ20361, KIAA1416 Yes No Comparative Toxicogenomics Database:55636, Ensembl:ENSG00000171316, GeneCard:CHD7, HGNC:HGNC:20626, ModBase:Q9P2D1, NCBI Gene:55636, OMIM:146110, OMIM:214800, OMIM:608765, OMIM:608892, OMIM:612370, RefSeq DNA:NG_007009, RefSeq DNA:NT_008183, RefSeq Protein:NP_060250, RefSeq RNA:NM_017780, UniProtKB:Q6ZWF9, UniProtKB:Q9P2D1 No chr8 61591321 61780587 60678744 60868028 +PA134957052 57680 HGNC:20153 ENSG00000100888 chromodomain helicase DNA binding protein 8 CHD8 DUPLIN, HELSNF1, KIAA1564 Yes No Comparative Toxicogenomics Database:57680, Ensembl:ENSG00000100888, GeneCard:CHD8, HGNC:HGNC:20153, HumanCyc Gene:HS02159, NCBI Gene:57680, OMIM:610528, RefSeq DNA:NG_021249, RefSeq DNA:NT_026437, RefSeq Protein:NP_001164100, RefSeq Protein:NP_065971, RefSeq RNA:NM_001170629, RefSeq RNA:NM_020920, UniProtKB:Q9HCK8 No chr14 21853353 21924276 21385194 21437298 +PA128394727 80205 HGNC:25701 ENSG00000177200 chromodomain helicase DNA binding protein 9 CHD9 BC022889, FLJ12178, KIAA0308 Yes No Comparative Toxicogenomics Database:80205, Ensembl:ENSG00000177200, GeneCard:CHD9, HGNC:HGNC:25701, NCBI Gene:80205, RefSeq DNA:NT_010498, RefSeq Protein:NP_079410, RefSeq RNA:NM_025134, UCSC Genome Browser:NM_025134, UniProtKB:Q3L8U1, UniProtKB:Q461N2 No chr16 53088905 53361414 53054991 53327502 +PA166352400 105371267 HGNC:53436 CHD9 neighbor CHD9NB p53-regulated lncRNA 1 PR-lncRNA-1 Yes No HGNC:HGNC:53436, NCBI Gene:105371267 No 0 0 0 0 +PA134873121 55349 HGNC:24288 ENSG00000016391 choline dehydrogenase CHDH Yes Yes Comparative Toxicogenomics Database:55349, Ensembl:ENSG00000016391, GeneCard:CHDH, HGNC:HGNC:24288, HumanCyc Gene:HS00375, ModBase:Q8NE62, NCBI Gene:55349, RefSeq DNA:NT_022517, RefSeq Protein:NP_060867, RefSeq RNA:NM_018397, UniProtKB:Q8NE62 No chr3 53850324 53880420 53813130 53846393 +PA110 1111 HGNC:1925 ENSG00000149554 checkpoint kinase 1 CHEK1 CHK1 Yes No Comparative Toxicogenomics Database:1111, Ensembl:ENSG00000149554, GenAtlas:CHEK1, GeneCard:CHEK1, HGNC:HGNC:1925, HumanCyc Gene:HS07626, ModBase:O14757, NCBI Gene:1111, OMIM:603078, RefSeq DNA:NT_033899, RefSeq Protein:NP_001107593, RefSeq Protein:NP_001107594, RefSeq Protein:NP_001265, RefSeq RNA:NM_001114121, RefSeq RNA:NM_001114122, RefSeq RNA:NM_001274, UCSC Genome Browser:NM_001274, UniProtKB:O14757 No chr11 125495031 125546150 125624910 125676259 +PA404 11200 HGNC:16627 ENSG00000183765 checkpoint kinase 2 CHEK2 CDS1, CHK2, HuCds1, PP1425, RAD53, bA444G7 Yes No Comparative Toxicogenomics Database:11200, Ensembl:ENSG00000183765, GenAtlas:CHEK2, GeneCard:CHEK2, HGNC:HGNC:16627, HumanCyc Gene:HS11913, ModBase:Q6QA11, NCBI Gene:11200, OMIM:114480, OMIM:176807, OMIM:259500, OMIM:604373, OMIM:609265, RefSeq DNA:NG_008150, RefSeq DNA:NT_011520, RefSeq Protein:NP_001005735, RefSeq Protein:NP_009125, RefSeq Protein:NP_665861, RefSeq RNA:NM_001005735, RefSeq RNA:NM_007194, RefSeq RNA:NM_145862, UCSC Genome Browser:NM_007194, UniProtKB:O96017 No chr22 29083731 29137822 28687743 28741866 +PA165791195 100133012 HGNC:37999 ENSG00000275828 checkpoint kinase 2 pseudogene 1 CHEK2P1 Yes No Ensembl:ENSG00000275828, GeneCard:CHEK2P1, HGNC:HGNC:37999, NCBI Gene:100133012, RefSeq DNA:NT_113819, RefSeq Protein:XP_001720941, RefSeq RNA:XM_001720889 No chrY 13568223 13574548 11412547 11418872 +PA26459 10523 HGNC:16930 ENSG00000085872 calcium homeostasis endoplasmic reticulum protein CHERP DAN16, ERPROT213-21 Yes No Comparative Toxicogenomics Database:10523, Ensembl:ENSG00000085872, GenAtlas:CHERP, GeneCard:CHERP, HGNC:HGNC:16930, HumanCyc Gene:HS01513, NCBI Gene:10523, RefSeq DNA:NT_011295, RefSeq Protein:NP_006378, RefSeq RNA:NM_006387, UCSC Genome Browser:NM_006387, UniProtKB:Q8IWX8 No chr19 16628700 16653341 16517889 16542452 +PA134898949 55743 HGNC:20455 ENSG00000072609 checkpoint with forkhead and ring finger domains CHFR checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase FLJ10796, RNF196 Yes No Comparative Toxicogenomics Database:55743, Ensembl:ENSG00000072609, GeneCard:CHFR, HGNC:HGNC:20455, HumanCyc Gene:HS01074, ModBase:Q96EP1, NCBI Gene:55743, OMIM:605209, RefSeq DNA:NT_024477, RefSeq Protein:NP_001154816, RefSeq Protein:NP_001154817, RefSeq Protein:NP_001154818, RefSeq Protein:NP_001154819, RefSeq Protein:NP_060693, RefSeq RNA:NM_001161344, RefSeq RNA:NM_001161345, RefSeq RNA:NM_001161346, RefSeq RNA:NM_001161347, RefSeq RNA:NM_018223, UniProtKB:Q96EP1 No chr12 133416937 133481459 132840352 132887618 +PA26461 1113 HGNC:1929 ENSG00000100604 chromogranin A CHGA chromogranin A (parathyroid secretory protein 1), pancreastatin, parastatin, parathyroid secretory protein 1, vasostatin PHE5, PHES Yes No Comparative Toxicogenomics Database:1113, Ensembl:ENSG00000100604, GenAtlas:CHGA, GeneCard:CHGA, HGNC:HGNC:1929, HumanCyc Gene:HS02122, ModBase:P10645, NCBI Gene:1113, OMIM:118910, RefSeq DNA:NT_026437, RefSeq Protein:NP_001266, RefSeq RNA:NM_001275, UCSC Genome Browser:NM_001275, UniProtKB:P10645, UniProtKB:Q86T07 No chr14 93389445 93401638 92922589 92935293 +PA26462 1114 HGNC:1930 ENSG00000089199 chromogranin B CHGB chromogranin B (secretogranin 1), secretogranin B SCG1, SgI Yes No Comparative Toxicogenomics Database:1114, Ensembl:ENSG00000089199, GenAtlas:CHGB, GeneCard:CHGB, HGNC:HGNC:1930, HumanCyc Gene:HS01643, ModBase:P05060, NCBI Gene:1114, OMIM:118920, RefSeq DNA:NT_011387, RefSeq Protein:NP_001810, RefSeq RNA:NM_001819, UCSC Genome Browser:NM_001819, UniProtKB:P05060 No chr20 5891974 5906007 5911328 5925361 +PA26463 1116 HGNC:1932 ENSG00000133048 chitinase 3 like 1 CHI3L1 cartilage glycoprotein-39, chitinase 3-like 1 (cartilage glycoprotein-39) GP39, YK-40, YKL40 Yes No Comparative Toxicogenomics Database:1116, Ensembl:ENSG00000133048, GenAtlas:CHI3L1, GeneCard:CHI3L1, HGNC:HGNC:1932, HumanCyc Gene:HS05723, ModBase:P36222, NCBI Gene:1116, OMIM:181500, OMIM:601525, OMIM:611960, RefSeq DNA:NG_013056, RefSeq DNA:NT_004487, RefSeq Protein:NP_001267, RefSeq RNA:NM_001276, UCSC Genome Browser:NM_001276, UniProtKB:P36222 No chr1 203148059 203155978 203178931 203186794 +PA26464 1117 HGNC:1933 ENSG00000064886 chitinase 3 like 2 CHI3L2 chitinase 3-like 2 YKL-39, YKL39 Yes No Ensembl:ENSG00000064886, GenAtlas:CHI3L2, GeneCard:CHI3L2, HGNC:HGNC:1933, HumanCyc Gene:HS00820, ModBase:Q15782, NCBI Gene:1117, OMIM:601526, RefSeq DNA:NT_032977, RefSeq Protein:NP_001020368, RefSeq Protein:NP_001020370, RefSeq Protein:NP_003991, RefSeq RNA:NM_001025197, RefSeq RNA:NM_001025199, RefSeq RNA:NM_004000, UCSC Genome Browser:NM_004000, UniProtKB:A6NNY3, UniProtKB:Q15782 No chr1 111770281 111786062 111227659 111243440 +PA142672117 27159 HGNC:17432 ENSG00000134216 chitinase acidic CHIA """acidic mammalian chitinase"", ""chitinase, acidic""" AMCase, CHIT2, TSA1902 Yes Yes Comparative Toxicogenomics Database:27159, Ensembl:ENSG00000134216, GeneCard:CHIA, HGNC:HGNC:17432, HumanCyc Gene:HS05835, ModBase:Q9ULY4, NCBI Gene:27159, OMIM:606080, RefSeq DNA:NT_032977, RefSeq Protein:NP_068569, RefSeq Protein:NP_970615, RefSeq RNA:NM_021797, RefSeq RNA:NM_201653, UniProtKB:Q9BZP6 No chr1 111833474 111863188 111290852 111320566 +PA26465 53344 HGNC:1934 ENSG00000204116 cysteine rich hydrophobic domain 1 CHIC1 cysteine-rich hydrophobic domain 1 BRX Yes No Ensembl:ENSG00000204116, GenAtlas:CHIC1, GeneCard:CHIC1, HGNC:HGNC:1934, ModBase:Q5VXU3, NCBI Gene:53344, RefSeq DNA:NT_011669, RefSeq Protein:NP_001034929, RefSeq RNA:NM_001039840, UniProtKB:Q5VXU3 No chrX 72782984 72906937 73563045 73687109 +PA26466 26511 HGNC:1935 ENSG00000109220 cysteine rich hydrophobic domain 2 CHIC2 cysteine-rich hydrophobic domain 2 BTL Yes Yes Comparative Toxicogenomics Database:26511, Ensembl:ENSG00000109220, GenAtlas:CHIC2, GeneCard:CHIC2, HGNC:HGNC:1935, HumanCyc Gene:HS03212, NCBI Gene:26511, OMIM:601626, OMIM:604332, RefSeq DNA:NT_022853, RefSeq Protein:NP_036242, RefSeq RNA:NM_012110, UCSC Genome Browser:NM_012110, UniProtKB:Q9UKJ5 No chr4 54874540 54931562 53996335 54064648 +PA142672118 66005 HGNC:28474 ENSG00000177830 chitinase domain containing 1 CHID1 stabilin-1 interacting chitinase-like protein FLJ42707, MGC3234, SI-CLP Yes No Comparative Toxicogenomics Database:66005, Ensembl:ENSG00000177830, GeneCard:CHID1, HGNC:HGNC:28474, HumanCyc Gene:HS11219, ModBase:Q9BWS9, NCBI Gene:66005, RefSeq DNA:NT_009237, RefSeq Protein:NP_001136146, RefSeq Protein:NP_001136147, RefSeq Protein:NP_001136148, RefSeq Protein:NP_001136149, RefSeq Protein:NP_076436, RefSeq RNA:NM_001142674, RefSeq RNA:NM_001142675, RefSeq RNA:NM_001142676, RefSeq RNA:NM_001142677, RefSeq RNA:NM_023947, UniProtKB:Q9BWS9 No chr11 867859 915058 867859 915058 +PA26467 1118 HGNC:1936 ENSG00000133063 chitinase 1 CHIT1 chitinase 1 (chitotriosidase), chitotriosidase CHI3, CHIT Yes No Comparative Toxicogenomics Database:1118, Ensembl:ENSG00000133063, GenAtlas:CHIT1, GeneCard:CHIT1, HGNC:HGNC:1936, HumanCyc Gene:HS05727, ModBase:Q13231, NCBI Gene:1118, OMIM:600031, RefSeq DNA:NG_012867, RefSeq DNA:NT_004487, RefSeq Protein:NP_003456, RefSeq RNA:NM_003465, UCSC Genome Browser:NM_003465, UniProtKB:Q13231 No chr1 203185207 203198860 203216079 203229732 +PA26468 1119 HGNC:1937 ENSG00000110721 choline kinase alpha CHKA CHK, CKI Yes No Comparative Toxicogenomics Database:1119, Ensembl:ENSG00000110721, GenAtlas:CHKA, GeneCard:CHKA, HGNC:HGNC:1937, HumanCyc Gene:HS03334, ModBase:P35790, NCBI Gene:1119, OMIM:118491, RefSeq DNA:NT_167190, RefSeq Protein:NP_001268, RefSeq Protein:NP_997634, RefSeq RNA:NM_001277, RefSeq RNA:NM_212469, UCSC Genome Browser:NM_001277, UniProtKB:P35790 No chr11 67820326 67888858 68052859 68121391 +PA26469 1120 HGNC:1938 ENSG00000100288 choline kinase beta CHKB CHETK, CHKL Yes No Ensembl:ENSG00000100288, GenAtlas:CHKB, GeneCard:CHKB, HGNC:HGNC:1938, HumanCyc Gene:HS02025, ModBase:Q9Y259, NCBI Gene:1120, OMIM:612395, RefSeq DNA:NG_003100, RefSeq DNA:NT_011526, RefSeq Protein:NP_005189, RefSeq Protein:NP_689466, RefSeq RNA:NM_005198, RefSeq RNA:NM_152253, UCSC Genome Browser:NM_005198, UniProtKB:A0PJM6, UniProtKB:Q9Y259 No chr22 51017387 51021428 50578958 50582999 +PA26470 10752 HGNC:1939 ENSG00000134121 cell adhesion molecule L1 like CHL1 cell adhesion molecule L1-like, close homolog of L1, neural cell adhesion molecule CALL, FLJ44930, L1CAM2, MGC132578 Yes Yes Comparative Toxicogenomics Database:10752, Ensembl:ENSG00000134121, GenAtlas:CHL1, GeneCard:CHL1, HGNC:HGNC:1939, HumanCyc Gene:HS05822, ModBase:O00533, NCBI Gene:10752, OMIM:607416, RefSeq DNA:NT_022517, RefSeq Protein:NP_006605, RefSeq RNA:NM_006614, UCSC Genome Browser:NM_006614, UniProtKB:O00533 No chr3 238279 451100 196588 409417 +PA26471 1121 HGNC:1940 ENSG00000188419 CHM Rab escort protein CHM """CHM, Rab escort protein 1"", ""Rab escort protein 1"", ""choroideremia (Rab escort protein 1)""" DXS540, REP-1, TCD Yes No Comparative Toxicogenomics Database:1121, Ensembl:ENSG00000188419, GenAtlas:CHM, GeneCard:CHM, HGNC:HGNC:1940, ModBase:P24386, NCBI Gene:1121, OMIM:300390, OMIM:303100, RefSeq DNA:NG_009874, RefSeq DNA:NT_011651, RefSeq Protein:NP_000381, RefSeq Protein:NP_001138886, RefSeq RNA:NM_000390, RefSeq RNA:NM_001145414, UCSC Genome Browser:NM_000390, UniProtKB:A1L4D2, UniProtKB:P24386 No chrX 85116185 85302566 85861180 86047565 +PA26472 1122 HGNC:1941 ENSG00000203668 CHM like Rab escort protein CHML """CHM like, Rab escort protein 2"", ""Rab escort protein 2"", ""choroideremia-like (Rab escort protein 2)""" REP-2 Yes No Comparative Toxicogenomics Database:1122, Ensembl:ENSG00000203668, GenAtlas:CHML, GeneCard:CHML, HGNC:HGNC:1941, ModBase:P26374, NCBI Gene:1122, OMIM:118825, RefSeq DNA:NT_167186, RefSeq Protein:NP_001812, RefSeq RNA:NM_001821, UCSC Genome Browser:NM_001821, UniProtKB:P26374 No chr1 241792166 241799232 241628864 241635930 +PA33085 5119 HGNC:8740 ENSG00000131165 charged multivesicular body protein 1A CHMP1A VPS46 homolog A (S. cerevisiae) CHMP1, KIAA0047, PCOLN3, PRSM1, Vps46A Yes No Comparative Toxicogenomics Database:5119, Ensembl:ENSG00000131165, GenAtlas:PCOLN3, GeneCard:CHMP1A, GeneCard:PCOLN3, HGNC:HGNC:8740, HumanCyc Gene:HS05496, NCBI Gene:5119, OMIM:164010, RefSeq DNA:NT_010542, RefSeq Protein:NP_001076783, RefSeq Protein:NP_002759, RefSeq RNA:NM_001083314, RefSeq RNA:NM_002768, UCSC Genome Browser:NM_002768, UniProtKB:A6NG32, UniProtKB:Q9HD42 No chr16 89710839 89724193 89644431 89657785 +PA142672110 57132 HGNC:24287 ENSG00000255112 charged multivesicular body protein 1B CHMP1B VPS46 homolog B (S. cerevisiae) C18orf2, CHMP1.5, Vps46B Yes No Ensembl:ENSG00000255112, GeneCard:CHMP1B, HGNC:HGNC:24287, ModBase:Q7LBR1, NCBI Gene:57132, OMIM:606486, RefSeq DNA:NT_010859, RefSeq Protein:NP_065145, RefSeq RNA:NM_020412, UniProtKB:Q7LBR1 No chr18 11851389 11854448 11851390 11854449 +PA142672111 27243 HGNC:30216 ENSG00000130724 charged multivesicular body protein 2A CHMP2A VPS2 homolog A (S. cerevisiae), putative breast adenocarcinoma marker (32kD) BC-2, CHMP2, VPS2, VPS2A Yes No Comparative Toxicogenomics Database:27243, Ensembl:ENSG00000130724, GeneCard:CHMP2A, HGNC:HGNC:30216, HumanCyc Gene:HS05431, ModBase:O43633, NCBI Gene:27243, OMIM:610893, RefSeq DNA:NT_011109, RefSeq Protein:NP_055268, RefSeq Protein:NP_940818, RefSeq RNA:NM_014453, RefSeq RNA:NM_198426, UniProtKB:O43633 No chr19 59062933 59066495 58551566 58555624 +PA142672112 25978 HGNC:24537 ENSG00000083937 charged multivesicular body protein 2B CHMP2B VPS2 homolog B (S. cerevisiae) CHMP2.5, DKFZP564O123, VPS2B Yes No Comparative Toxicogenomics Database:25978, Ensembl:ENSG00000083937, GeneCard:CHMP2B, HGNC:HGNC:24537, HumanCyc Gene:HS01461, ModBase:Q9UQN3, NCBI Gene:25978, OMIM:600795, OMIM:609512, RefSeq DNA:NG_007885, RefSeq DNA:NT_022459, RefSeq Protein:NP_054762, RefSeq RNA:NM_014043, UniProtKB:B2RE76, UniProtKB:Q9UQN3 No chr3 87276413 87304698 87227263 87255548 +PA134920495 51652 HGNC:29865 ENSG00000115561 charged multivesicular body protein 3 CHMP3 neuroendocrine differentiation factor CGI-149, NEDF, VPS24 Yes No Ensembl:ENSG00000115561, GeneCard:VPS24, HGNC:HGNC:29865, HumanCyc Gene:HS03909, ModBase:Q9Y3E7, NCBI Gene:51652, OMIM:610052, RefSeq DNA:NT_022184, RefSeq Protein:NP_001005753, RefSeq Protein:NP_001180446, RefSeq Protein:NP_057163, RefSeq RNA:NM_001005753, RefSeq RNA:NM_001193517, RefSeq RNA:NM_016079, RefSeq RNA:NR_036454, UniProtKB:A8K3W0, UniProtKB:Q3ZTS9, UniProtKB:Q9Y3E7 No chr2 86730553 86790620 86503430 86563497 +PA134888743 29082 HGNC:20274 ENSG00000100931, ENSG00000254505 charged multivesicular body protein 4A CHMP4A C14orf123, HSPC134, Snf7-1, VPS32A, hSnf7-1 Yes No Ensembl:ENSG00000100931, Ensembl:ENSG00000254505, GeneCard:CHMP4A, HGNC:HGNC:20274, HumanCyc Gene:HS02167, NCBI Gene:29082, OMIM:610051, RefSeq DNA:NT_026437, RefSeq Protein:NP_054888, RefSeq RNA:NM_014169, UniProtKB:Q14D22, UniProtKB:Q9BY43 No chr14 24678787 24683036 24209581 24213830 +PA25721 128866 HGNC:16171 ENSG00000101421 charged multivesicular body protein 4B CHMP4B C20orf178, SNF7-2, Shax1, VPS32B, dJ553F4.4 Yes No Comparative Toxicogenomics Database:128866, Ensembl:ENSG00000101421, GenAtlas:CHMP4B, GeneCard:CHMP4B, HGNC:HGNC:16171, HumanCyc Gene:HS02264, ModBase:Q9H444, NCBI Gene:128866, OMIM:605387, OMIM:610897, RefSeq DNA:NG_015820, RefSeq DNA:NT_011362, RefSeq Protein:NP_789782, RefSeq RNA:NM_176812, UCSC Genome Browser:NM_176812, UniProtKB:Q9H444 No chr20 32399110 32442173 33811304 33854367 +PA142672113 92421 HGNC:30599 ENSG00000164695 charged multivesicular body protein 4C CHMP4C Snf7 homologue associated with Alix 3 MGC22825, Shax3, VPS32C Yes No Comparative Toxicogenomics Database:92421, Ensembl:ENSG00000164695, GeneCard:CHMP4C, HGNC:HGNC:30599, HumanCyc Gene:HS09119, ModBase:Q96CF2, NCBI Gene:92421, OMIM:610899, RefSeq DNA:NT_008183, RefSeq Protein:NP_689497, RefSeq RNA:NM_152284, UniProtKB:Q96CF2 No chr8 82644688 82671750 81732453 81759515 +PA134903143 51510 HGNC:26942 ENSG00000086065 charged multivesicular body protein 5 CHMP5 C9orf83, CGI-34, HSPC177, SNF7DC2, Vps60 Yes No Comparative Toxicogenomics Database:51510, Ensembl:ENSG00000086065, GeneCard:CHMP5, HGNC:HGNC:26942, HumanCyc Gene:HS01520, ModBase:Q9NZZ3, NCBI Gene:51510, OMIM:610900, RefSeq DNA:NT_008413, RefSeq Protein:NP_001182465, RefSeq Protein:NP_057494, RefSeq RNA:NM_001195536, RefSeq RNA:NM_016410, UniProtKB:Q9NZZ3 No chr9 33264877 33282067 33264879 33282069 +PA142672114 79643 HGNC:25675 ENSG00000176108 charged multivesicular body protein 6 CHMP6 FLJ11749, VPS20 Yes No Ensembl:ENSG00000176108, GeneCard:CHMP6, HGNC:HGNC:25675, HumanCyc Gene:HS11001, ModBase:Q96FZ7, NCBI Gene:79643, OMIM:610901, RefSeq DNA:NT_010783, RefSeq Protein:NP_078867, RefSeq RNA:NM_024591, UniProtKB:Q96FZ7 No chr17 78965641 78973933 80991841 81000133 +PA142672115 91782 HGNC:28439 ENSG00000147457 charged multivesicular body protein 7 CHMP7 MGC29816 Yes No Ensembl:ENSG00000147457, GeneCard:CHMP7, HGNC:HGNC:28439, HumanCyc Gene:HS07437, ModBase:Q8WUX9, NCBI Gene:91782, OMIM:611130, RefSeq DNA:NT_167187, RefSeq Protein:NP_689485, RefSeq RNA:NM_152272, UniProtKB:B3KUH0, UniProtKB:Q8WUX9 No chr8 23101150 23119512 23243637 23262000 +PA26473 1123 HGNC:1943 ENSG00000128656 chimerin 1 CHN1 """Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1""" ARHGAP2, CHN, DURS2, RhoGAP2, n-chimerin Yes No Ensembl:ENSG00000128656, GenAtlas:CHN1, GeneCard:CHN1, HGNC:HGNC:1943, HumanCyc Gene:HS05214, ModBase:P15882, NCBI Gene:1123, OMIM:118423, OMIM:604356, RefSeq DNA:NG_012642, RefSeq DNA:NT_005403, RefSeq Protein:NP_001020372, RefSeq Protein:NP_001193531, RefSeq Protein:NP_001813, RefSeq RNA:NM_001025201, RefSeq RNA:NM_001206602, RefSeq RNA:NM_001822, RefSeq RNA:NR_038133, UCSC Genome Browser:NM_001822, UniProtKB:B4DV19, UniProtKB:P15882 No chr2 175664042 175870671 174799314 175005379 +PA26474 1124 HGNC:1944 ENSG00000106069 chimerin 2 CHN2 beta chimerin, chimaerin 2 ARHGAP3, RhoGAP3 Yes No Ensembl:ENSG00000106069, GenAtlas:CHN2, GeneCard:CHN2, HGNC:HGNC:1944, HumanCyc Gene:HS02857, ModBase:P52757, NCBI Gene:1124, OMIM:602857, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001035025, RefSeq Protein:NP_004058, RefSeq RNA:NM_001039936, RefSeq RNA:NM_004067, UCSC Genome Browser:NM_004067, UniProtKB:A4D1A2, UniProtKB:P52757 No chr7 29233991 29553944 29146547 29514335 +PA26475 140578 HGNC:17807 ENSG00000154645 chondrolectin CHODL C21orf68, FLJ12627, MT75, PRED12 Yes No Ensembl:ENSG00000154645, GenAtlas:CHODL, GeneCard:CHODL, HGNC:HGNC:17807, HumanCyc Gene:HS07995, ModBase:Q9H9P2, NCBI Gene:140578, OMIM:607247, RefSeq DNA:NT_011512, RefSeq Protein:NP_001191103, RefSeq Protein:NP_001191104, RefSeq Protein:NP_001191105, RefSeq Protein:NP_001191106, RefSeq Protein:NP_001191107, RefSeq Protein:NP_079220, RefSeq RNA:NM_001204174, RefSeq RNA:NM_001204175, RefSeq RNA:NM_001204176, RefSeq RNA:NM_001204177, RefSeq RNA:NM_001204178, RefSeq RNA:NM_024944, UCSC Genome Browser:NM_024944, UniProtKB:Q9H9P2 No chr21 19400190 19639687 17819329 18267371 +PA164723724 54075 HGNC:1279 ENSG00000231755 CHODL antisense RNA 1 CHODL-AS1 Yes No Ensembl:ENSG00000231755, GeneCard:NCRNA00157, HGNC:HGNC:1279, NCBI Gene:54075, RefSeq DNA:NT_011512, RefSeq RNA:NR_024354 No chr21 19207989 19257925 17835672 17885608 +PA26476 26973 HGNC:14525 ENSG00000110172 cysteine and histidine rich domain containing 1 CHORDC1 cysteine and histidine-rich domain (CHORD) containing 1, morgana CHP-1, CHP1 Yes No Comparative Toxicogenomics Database:26973, Ensembl:ENSG00000110172, GenAtlas:CHORDC1, GeneCard:CHORDC1, HGNC:HGNC:14525, HumanCyc Gene:HS03292, ModBase:Q9UHD1, NCBI Gene:26973, OMIM:604353, RefSeq DNA:NT_167190, RefSeq Protein:NP_001137545, RefSeq Protein:NP_036256, RefSeq RNA:NM_001144073, RefSeq RNA:NM_012124, UCSC Genome Browser:NM_012124, UniProtKB:Q9UHD1 No chr11 89933597 89956532 90200429 90223364 +PA134908187 317775 HGNC:20050 ENSG00000259050 cysteine and histidine-rich domain (CHORD) containing 2 pseudogene CHORDC2P Yes No Ensembl:ENSG00000259050, GeneCard:CHORDC2P, HGNC:HGNC:20050, NCBI Gene:317775, RefSeq DNA:NG_002473, RefSeq DNA:NT_026437 No chr14 90201022 90204786 89734678 89738442 +PA166048950 11261 HGNC:17433 ENSG00000187446 calcineurin like EF-hand protein 1 CHP1 calcineurin homologous protein, calcineurin-like EF-hand protein 1 CHP, SLC9A1BP, Sid470p, p22, p24 Yes No Ensembl:ENSG00000187446, HGNC:HGNC:17433, NCBI Gene:11261 No chr15 41523341 41574085 41231149 41281887 +PA166048964 63928 HGNC:24927 ENSG00000166869 calcineurin like EF-hand protein 2 CHP2 calcineurin-like EF-hand protein 2 Yes No Ensembl:ENSG00000166869, HGNC:HGNC:24927, NCBI Gene:63928 No chr16 23765948 23770272 23754627 23758951 +PA162382245 79586 HGNC:24291 ENSG00000123989 chondroitin polymerizing factor CHPF chondroitin sulfate synthase 2 CHPF1, CHSY2, CSS2 Yes No Ensembl:ENSG00000123989, GeneCard:CHPF, HGNC:HGNC:24291, HumanCyc Gene:HS13103, ModBase:Q8IZ52, NCBI Gene:79586, OMIM:610405, RefSeq DNA:NT_005403, RefSeq Protein:NP_001182660, RefSeq Protein:NP_078812, RefSeq RNA:NM_001195731, RefSeq RNA:NM_024536, UniProtKB:Q8IZ52 No chr2 220403669 220408487 219538947 219543765 +PA165617920 54480 HGNC:29270 ENSG00000033100 chondroitin polymerizing factor 2 CHPF2 chondroitin sulfate glucuronyltransferase CSGlcA-T, ChSy-3, KIAA1402 Yes No Ensembl:ENSG00000033100, GeneCard:CHPF2, HGNC:HGNC:29270, NCBI Gene:54480, OMIM:608037, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_061888, RefSeq RNA:NM_019015, UniProtKB:Q9P2E5 No chr7 150929575 150935913 151232489 151238827 +PA26477 56994 HGNC:17852 ENSG00000111666 choline phosphotransferase 1 CHPT1 phosphatidylcholine synthesizing enzyme CPT1 Yes No Comparative Toxicogenomics Database:56994, Ensembl:ENSG00000111666, GenAtlas:CHPT1, GeneCard:CHPT1, HGNC:HGNC:17852, HumanCyc Gene:HS03439, ModBase:Q9NRQ7, NCBI Gene:56994, RefSeq DNA:NT_029419, RefSeq Protein:NP_064629, RefSeq RNA:NM_020244, UCSC Genome Browser:NM_020244, UniProtKB:Q8WUD6 No chr12 102091417 102122852 101697639 101752038 +PA26481 54108 HGNC:13544 ENSG00000104472 chromatin accessibility complex subunit 1 CHRAC1 chromatin accessibility complex 1, histone-fold protein CHRAC15 CHRAC15, YCL1 Yes No Ensembl:ENSG00000104472, GenAtlas:CHRAC1, GeneCard:CHRAC1, HGNC:HGNC:13544, HumanCyc Gene:HS02586, ModBase:Q9NRG0, NCBI Gene:54108, OMIM:607268, RefSeq DNA:NT_008046, RefSeq Protein:NP_059140, RefSeq RNA:NM_017444, RefSeq RNA:NR_023360, UCSC Genome Browser:NM_017444, UniProtKB:Q9NRG0 No chr8 141521397 141527252 140511298 140517153 +PA26482 8646 HGNC:1949 ENSG00000090539 chordin CHRD Yes No Comparative Toxicogenomics Database:8646, Ensembl:ENSG00000090539, GenAtlas:CHRD, GeneCard:CHRD, HGNC:HGNC:1949, HumanCyc Gene:HS01695, ModBase:Q9P0Z3, NCBI Gene:8646, OMIM:603475, RefSeq DNA:NT_005612, RefSeq Protein:NP_003732, RefSeq RNA:NM_003741, UCSC Genome Browser:NM_003741, UniProtKB:Q9H2X0 No chr3 184097861 184107617 184380073 184389835 +PA134933380 91851 HGNC:29861 ENSG00000101938 chordin like 1 CHRDL1 chordin-like 1 CHL, MGC1, NRLN1 Yes No Ensembl:ENSG00000101938, GeneCard:CHRDL1, HGNC:HGNC:29861, HumanCyc Gene:HS12471, ModBase:Q9BU40, NCBI Gene:91851, OMIM:300350, RefSeq DNA:NG_012816, RefSeq DNA:NT_011651, RefSeq Protein:NP_001137453, RefSeq Protein:NP_001137454, RefSeq Protein:NP_001137455, RefSeq Protein:NP_660277, RefSeq RNA:NM_001143981, RefSeq RNA:NM_001143982, RefSeq RNA:NM_001143983, RefSeq RNA:NM_145234, UniProtKB:B4DMP3, UniProtKB:Q9BU40 No chrX 109917084 110039286 110673856 110796058 +PA134883081 25884 HGNC:24168 ENSG00000054938 chordin like 2 CHRDL2 chordin-like 2 BNF1 Yes No Ensembl:ENSG00000054938, GeneCard:CHRDL2, HGNC:HGNC:24168, HumanCyc Gene:HS12138, ModBase:Q6WN34, NCBI Gene:25884, OMIM:613127, RefSeq DNA:NT_167190, RefSeq Protein:NP_056239, RefSeq RNA:NM_015424, UniProtKB:Q6WN34, UniProtKB:Q9BZ90 No chr11 74407474 74442227 74696428 74731385 +PA26483 89832 HGNC:15781 ENSG00000166664, ENSG00000175344 CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion CHRNA7-DR1, D-10 Yes No Ensembl:ENSG00000166664, Ensembl:ENSG00000175344, GenAtlas:CHRFAM7A, GeneCard:CHRFAM7A, HGNC:HGNC:15781, HumanCyc Gene:HS15470, ModBase:Q494W8, NCBI Gene:89832, OMIM:609756, RefSeq DNA:NT_010194, RefSeq Protein:NP_647536, RefSeq Protein:NP_683709, RefSeq RNA:NM_139320, RefSeq RNA:NM_148911, UCSC Genome Browser:NM_139320, UniProtKB:Q494W8, UniProtKB:Q8IUZ4 No chr15 30652769 30685864 30357770 30393849 +PA26484 1128 HGNC:1950 ENSG00000168539 cholinergic receptor muscarinic 1 CHRM1 """acetylcholine receptor, muscarinic 1"", ""cholinergic receptor, muscarinic 1""" Yes Yes Comparative Toxicogenomics Database:1128, Ensembl:ENSG00000168539, GenAtlas:CHRM1, GeneCard:CHRM1, HGNC:HGNC:1950, HumanCyc Gene:HS09783, IUPHAR Receptor:13, ModBase:P11229, NCBI Gene:1128, OMIM:118510, RefSeq DNA:NT_167190, RefSeq Protein:NP_000729, RefSeq RNA:NM_000738, UCSC Genome Browser:NM_000738, UniProtKB:P11229, UniProtKB:Q53XZ3 No chr11 62676151 62689012 62908675 62921861 +PA111 1129 HGNC:1951 ENSG00000181072 cholinergic receptor muscarinic 2 CHRM2 """acetylcholine receptor, muscarinic 2"", ""cholinergic receptor, muscarinic 2""" Yes Yes Comparative Toxicogenomics Database:1129, Ensembl:ENSG00000181072, GenAtlas:CHRM2, GeneCard:CHRM2, HGNC:HGNC:1951, HumanCyc Gene:HS11571, IUPHAR Receptor:14, ModBase:P08172, NCBI Gene:1129, OMIM:118493, RefSeq DNA:NG_011846, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_000730, RefSeq Protein:NP_001006627, RefSeq Protein:NP_001006628, RefSeq Protein:NP_001006629, RefSeq Protein:NP_001006630, RefSeq Protein:NP_001006631, RefSeq Protein:NP_001006632, RefSeq Protein:NP_001006633, RefSeq RNA:NM_000739, RefSeq RNA:NM_001006626, RefSeq RNA:NM_001006627, RefSeq RNA:NM_001006628, RefSeq RNA:NM_001006629, RefSeq RNA:NM_001006630, RefSeq RNA:NM_001006631, RefSeq RNA:NM_001006632, UCSC Genome Browser:NM_000739, UniProtKB:A4D1Q0, UniProtKB:P08172, UniProtKB:Q6SL56, UniProtKB:Q86SJ1 No chr7 136553399 136703720 136868652 137020255 +PA112 1131 HGNC:1952 ENSG00000133019 cholinergic receptor muscarinic 3 CHRM3 """acetylcholine receptor, muscarinic 3"", ""cholinergic receptor, muscarinic 3""" m3AChR Yes Yes Comparative Toxicogenomics Database:1131, Ensembl:ENSG00000133019, GenAtlas:CHRM3, GeneCard:CHRM3, HGNC:HGNC:1952, HumanCyc Gene:HS05718, IUPHAR Receptor:15, ModBase:P20309, NCBI Gene:1131, OMIM:118494, RefSeq DNA:NT_167186, RefSeq Protein:NP_000731, RefSeq RNA:NM_000740, UCSC Genome Browser:NM_000740, UniProtKB:P20309 No chr1 239549876 240078750 239386565 239915450 +PA26485 1132 HGNC:1953 ENSG00000180720 cholinergic receptor muscarinic 4 CHRM4 """acetylcholine receptor, muscarinic 4"", ""cholinergic receptor, muscarinic 4""" Yes Yes Comparative Toxicogenomics Database:1132, Ensembl:ENSG00000180720, GenAtlas:CHRM4, GeneCard:CHRM4, HGNC:HGNC:1953, IUPHAR Receptor:16, ModBase:P08173, NCBI Gene:1132, OMIM:118495, RefSeq DNA:NT_009237, RefSeq Protein:NP_000732, RefSeq RNA:NM_000741, UCSC Genome Browser:NM_000741, UniProtKB:P08173 No chr11 46405335 46413122 46384792 46386608 +PA26486 1133 HGNC:1954 ENSG00000184984 cholinergic receptor muscarinic 5 CHRM5 """acetylcholine receptor, muscarinic 5"", ""cholinergic receptor, muscarinic 5""" Yes No Comparative Toxicogenomics Database:1133, Ensembl:ENSG00000184984, GenAtlas:CHRM5, GeneCard:CHRM5, HGNC:HGNC:1954, IUPHAR Receptor:17, ModBase:P08912, NCBI Gene:1133, OMIM:118496, RefSeq DNA:NT_010194, RefSeq Protein:NP_036257, RefSeq RNA:NM_012125, UCSC Genome Browser:NM_012125, UniProtKB:P08912, UniProtKB:Q8IVW0 No chr15 34260446 34357295 33968314 34065094 +PA26487 1134 HGNC:1955 ENSG00000138435 cholinergic receptor nicotinic alpha 1 subunit CHRNA1 """acetylcholine receptor, nicotinic, alpha 1 (muscle)"", ""cholinergic receptor, nicotinic, alpha 1 (muscle)""" CHRNA Yes Yes Comparative Toxicogenomics Database:1134, Ensembl:ENSG00000138435, GenAtlas:CHRNA1, GeneCard:CHRNA1, HGNC:HGNC:1955, HumanCyc Gene:HS06505, IUPHAR Receptor:462, ModBase:P02708, NCBI Gene:1134, OMIM:100690, OMIM:253290, OMIM:601462, OMIM:608930, RefSeq DNA:NG_008172, RefSeq DNA:NT_005403, RefSeq Protein:NP_000070, RefSeq Protein:NP_001034612, RefSeq RNA:NM_000079, RefSeq RNA:NM_001039523, UCSC Genome Browser:NM_000079, UniProtKB:P02708, UniProtKB:Q53SH4 No chr2 175612320 175629200 174747592 174764472 +PA26488 57053 HGNC:13800 ENSG00000129749 cholinergic receptor nicotinic alpha 10 subunit CHRNA10 """acetylcholine receptor, nicotinic, alpha 10 (neuronal)"", ""cholinergic receptor, nicotinic, alpha 10 (neuronal)""" Yes Yes Ensembl:ENSG00000129749, GenAtlas:CHRNA10, GeneCard:CHRNA10, HGNC:HGNC:13800, HumanCyc Gene:HS05309, IUPHAR Receptor:470, ModBase:Q9GZZ6, NCBI Gene:57053, OMIM:606372, RefSeq DNA:NT_009237, RefSeq Protein:NP_065135, RefSeq RNA:NM_020402, UCSC Genome Browser:NM_020402, UniProtKB:Q9GZZ6 No chr11 3686817 3692614 3665587 3673208 +PA26489 1135 HGNC:1956 ENSG00000120903 cholinergic receptor nicotinic alpha 2 subunit CHRNA2 """acetylcholine receptor, nicotinic, alpha 2 (neuronal)"", ""cholinergic receptor, nicotinic, alpha 2 (neuronal)""" Yes Yes Comparative Toxicogenomics Database:1135, Ensembl:ENSG00000120903, GenAtlas:CHRNA2, GeneCard:CHRNA2, HGNC:HGNC:1956, HumanCyc Gene:HS04448, IUPHAR Receptor:463, ModBase:Q15822, NCBI Gene:1135, OMIM:118502, OMIM:610353, RefSeq DNA:NG_015827, RefSeq DNA:NT_167187, RefSeq Protein:NP_000733, RefSeq RNA:NM_000742, UCSC Genome Browser:NM_000742, UniProtKB:Q15822 No chr8 27317278 27336813 27459761 27479296 +PA113 1136 HGNC:1957 ENSG00000080644 cholinergic receptor nicotinic alpha 3 subunit CHRNA3 """acetylcholine receptor, nicotinic, alpha 3 (neuronal)"", ""cholinergic receptor, nicotinic, alpha 3 (neuronal)""" Yes Yes Comparative Toxicogenomics Database:1136, Ensembl:ENSG00000080644, GenAtlas:CHRNA3, GeneCard:CHRNA3, HGNC:HGNC:1957, HumanCyc Gene:HS01365, IUPHAR Receptor:464, ModBase:P32297, NCBI Gene:1136, OMIM:118503, OMIM:612052, RefSeq DNA:NG_016143, RefSeq DNA:NT_010194, RefSeq Protein:NP_000734, RefSeq Protein:NP_001160166, RefSeq RNA:NM_000743, RefSeq RNA:NM_001166694, UCSC Genome Browser:NM_000743, UniProtKB:P32297 No chr15 78885394 78913637 78593052 78621295 +PA26490 1137 HGNC:1958 ENSG00000101204 cholinergic receptor nicotinic alpha 4 subunit CHRNA4 """acetylcholine receptor, nicotinic, alpha 4 (neuronal)"", ""cholinergic receptor, nicotinic, alpha 4 (neuronal)""" BFNC, EBN, EBN1 Yes Yes Comparative Toxicogenomics Database:1137, Ensembl:ENSG00000101204, GenAtlas:CHRNA4, GeneCard:CHRNA4, HGNC:HGNC:1958, HumanCyc Gene:HS02219, IUPHAR Receptor:465, ModBase:P43681, NCBI Gene:1137, OMIM:118504, OMIM:188890, OMIM:600513, RefSeq DNA:NG_011931, RefSeq DNA:NT_011333, RefSeq Protein:NP_000735, RefSeq RNA:NM_000744, UCSC Genome Browser:NM_000744, UniProtKB:P43681 No chr20 61974662 62009487 63343310 63375392 +PA26491 1138 HGNC:1959 ENSG00000169684 cholinergic receptor nicotinic alpha 5 subunit CHRNA5 """acetylcholine receptor, nicotinic, alpha 5 (neuronal)"", ""cholinergic receptor, nicotinic, alpha 5 (neuronal)""" Yes Yes Comparative Toxicogenomics Database:1138, Ensembl:ENSG00000169684, GenAtlas:CHRNA5, GeneCard:CHRNA5, HGNC:HGNC:1959, HumanCyc Gene:HS09988, IUPHAR Receptor:466, ModBase:P30532, NCBI Gene:1138, OMIM:118505, OMIM:612052, RefSeq DNA:NG_023328, RefSeq DNA:NT_010194, RefSeq Protein:NP_000736, RefSeq RNA:NM_000745, UCSC Genome Browser:NM_000745, UniProtKB:P30532 No chr15 78857862 78887611 78565520 78595269 +PA26492 8973 HGNC:15963 ENSG00000147434 cholinergic receptor nicotinic alpha 6 subunit CHRNA6 """acetylcholine receptor, nicotinic, alpha 6 (neuronal)"", ""alpha(alpha)6 nicotinic acetylcholine receptor (nAChR) subunit"", ""cholinergic receptor, nicotinic, alpha 6 (neuronal)""" Yes Yes Comparative Toxicogenomics Database:8973, Ensembl:ENSG00000147434, GenAtlas:CHRNA6, GeneCard:CHRNA6, HGNC:HGNC:15963, HumanCyc Gene:HS07432, IUPHAR Receptor:467, ModBase:Q15825, NCBI Gene:8973, OMIM:606888, RefSeq DNA:NT_167187, RefSeq Protein:NP_001186208, RefSeq Protein:NP_004189, RefSeq RNA:NM_001199279, RefSeq RNA:NM_004198, UCSC Genome Browser:NM_004198, UniProtKB:Q15825 No chr8 42607763 42623929 42752620 42768786 +PA114 1139 HGNC:1960 ENSG00000175344 cholinergic receptor nicotinic alpha 7 subunit CHRNA7 """acetylcholine receptor, nicotinic, alpha 7 (neuronal)"", ""cholinergic receptor, nicotinic, alpha 7 (neuronal)""" Yes Yes Comparative Toxicogenomics Database:1139, Ensembl:ENSG00000175344, GenAtlas:CHRNA7, GeneCard:CHRNA7, HGNC:HGNC:1960, HumanCyc Gene:HS10916, IUPHAR Receptor:468, ModBase:P36544, NCBI Gene:1139, OMIM:118511, RefSeq DNA:NG_009216, RefSeq DNA:NT_010194, RefSeq Protein:NP_000737, RefSeq Protein:NP_001177384, RefSeq RNA:NM_000746, RefSeq RNA:NM_001190455, UCSC Genome Browser:NM_000746, UniProtKB:B4DFS0, UniProtKB:P36544 No chr15 32322686 32462384 32030462 32172521 +PA26493 55584 HGNC:14079 ENSG00000174343 cholinergic receptor nicotinic alpha 9 subunit CHRNA9 """acetylcholine receptor, nicotinic, alpha 9 (neuronal)"", ""cholinergic receptor, nicotinic, alpha 9 (neuronal)""" NACHRA9 Yes No Ensembl:ENSG00000174343, GenAtlas:CHRNA9, GeneCard:CHRNA9, HGNC:HGNC:14079, HumanCyc Gene:HS10789, IUPHAR Receptor:469, ModBase:Q9UGM1, NCBI Gene:55584, OMIM:605116, RefSeq DNA:NT_006238, RefSeq Protein:NP_060051, RefSeq RNA:NM_017581, UCSC Genome Browser:NM_017581, UniProtKB:Q9UGM1 No chr4 40337346 40357234 40335329 40355217 +PA26494 1140 HGNC:1961 ENSG00000170175 cholinergic receptor nicotinic beta 1 subunit CHRNB1 """acetylcholine receptor, nicotinic, beta 1 (muscle)"", ""cholinergic receptor, nicotinic, beta 1 (muscle)""" CHRNB Yes Yes Comparative Toxicogenomics Database:1140, Ensembl:ENSG00000170175, GenAtlas:CHRNB1, GeneCard:CHRNB1, HGNC:HGNC:1961, HumanCyc Gene:HS10077, IUPHAR Receptor:471, ModBase:P11230, NCBI Gene:1140, OMIM:100710, OMIM:601462, OMIM:608931, RefSeq DNA:NG_008026, RefSeq DNA:NT_010718, RefSeq Protein:NP_000738, RefSeq RNA:NM_000747, UCSC Genome Browser:NM_000747, UniProtKB:P11230, UniProtKB:Q8IZ46 No chr17 7348406 7360932 7445087 7457613 +PA115 1141 HGNC:1962 ENSG00000160716 cholinergic receptor nicotinic beta 2 subunit CHRNB2 """acetylcholine receptor, nicotinic, beta 2 (neuronal)"", ""cholinergic receptor, nicotinic, beta 2 (neuronal)""" Yes Yes Comparative Toxicogenomics Database:1141, Ensembl:ENSG00000160716, GenAtlas:CHRNB2, GeneCard:CHRNB2, HGNC:HGNC:1962, HumanCyc Gene:HS08526, IUPHAR Receptor:472, ModBase:P17787, NCBI Gene:1141, OMIM:118507, OMIM:605375, RefSeq DNA:NG_008027, RefSeq DNA:NT_004487, RefSeq Protein:NP_000739, RefSeq RNA:NM_000748, UCSC Genome Browser:NM_000748, UniProtKB:P17787, UniProtKB:Q5SXY3 No chr1 154540257 154552354 154567781 154580026 +PA26495 1142 HGNC:1963 ENSG00000147432 cholinergic receptor nicotinic beta 3 subunit CHRNB3 """acetylcholine receptor, nicotinic, beta 3 (neuronal)"", ""cholinergic receptor, nicotinic, beta 3 (neuronal)""" Yes Yes Comparative Toxicogenomics Database:1142, Ensembl:ENSG00000147432, GenAtlas:CHRNB3, GeneCard:CHRNB3, HGNC:HGNC:1963, HumanCyc Gene:HS07431, IUPHAR Receptor:473, ModBase:Q05901, NCBI Gene:1142, OMIM:118508, RefSeq DNA:NT_167187, RefSeq Protein:NP_000740, RefSeq RNA:NM_000749, UCSC Genome Browser:NM_000749, UniProtKB:Q05901 No chr8 42552562 42592209 42697419 42737407 +PA26496 1143 HGNC:1964 ENSG00000117971 cholinergic receptor nicotinic beta 4 subunit CHRNB4 """acetylcholine receptor, nicotinic, beta 4 (neuronal)"", ""cholinergic receptor, nicotinic, beta 4 (neuronal)""" Yes Yes Comparative Toxicogenomics Database:1143, Ensembl:ENSG00000117971, GenAtlas:CHRNB4, GeneCard:CHRNB4, HGNC:HGNC:1964, HumanCyc Gene:HS04181, IUPHAR Receptor:474, ModBase:P30926, NCBI Gene:1143, OMIM:118509, RefSeq DNA:NT_010194, RefSeq Protein:NP_000741, RefSeq RNA:NM_000750, UCSC Genome Browser:NM_000750, UniProtKB:P30926 No chr15 78916636 78933587 78623282 78655586 +PA26497 1144 HGNC:1965 ENSG00000135902 cholinergic receptor nicotinic delta subunit CHRND """acetylcholine receptor, nicotinic, delta (muscle)"", ""cholinergic receptor, nicotinic, delta (muscle)""" ACHRD Yes No Comparative Toxicogenomics Database:1144, Ensembl:ENSG00000135902, GenAtlas:CHRND, GeneCard:CHRND, HGNC:HGNC:1965, HumanCyc Gene:HS06078, IUPHAR Receptor:476, ModBase:Q07001, NCBI Gene:1144, OMIM:100720, OMIM:253290, OMIM:601462, OMIM:608930, RefSeq DNA:NG_008028, RefSeq DNA:NT_005403, RefSeq Protein:NP_000742, RefSeq RNA:NM_000751, UCSC Genome Browser:NM_000751, UniProtKB:A8K661, UniProtKB:Q07001 No chr2 233390870 233401375 232526160 232537907 +PA26498 1145 HGNC:1966 ENSG00000108556 cholinergic receptor nicotinic epsilon subunit CHRNE """acetylcholine receptor, nicotinic, epsilon (muscle)"", ""cholinergic receptor, nicotinic, epsilon (muscle)""" ACHRE Yes No Comparative Toxicogenomics Database:1145, Ensembl:ENSG00000108556, GenAtlas:CHRNE, GeneCard:CHRNE, HGNC:HGNC:1966, HumanCyc Gene:HS03122, IUPHAR Receptor:477, ModBase:Q04844, NCBI Gene:1145, OMIM:100725, OMIM:601462, OMIM:608930, OMIM:608931, RefSeq DNA:NG_008029, RefSeq DNA:NT_010718, RefSeq Protein:NP_000071, RefSeq RNA:NM_000080, UCSC Genome Browser:NM_000080, UniProtKB:Q04844 No chr17 4801064 4806369 4897769 4905019 +PA26499 1146 HGNC:1967 ENSG00000196811 cholinergic receptor nicotinic gamma subunit CHRNG """acetylcholine receptor, nicotinic, gamma (muscle)"", ""cholinergic receptor, nicotinic, gamma (muscle)""" ACHRG Yes No Comparative Toxicogenomics Database:1146, Ensembl:ENSG00000196811, GenAtlas:CHRNG, GeneCard:CHRNG, HGNC:HGNC:1967, IUPHAR Receptor:475, ModBase:P07510, NCBI Gene:1146, OMIM:100730, OMIM:253290, OMIM:265000, RefSeq DNA:NG_012954, RefSeq DNA:NT_005403, RefSeq Protein:NP_005190, RefSeq RNA:NM_005199, UCSC Genome Browser:NM_005199, UniProtKB:P07510 No chr2 233404424 233411038 232539727 232546328 +PA26501 8534 HGNC:1969 ENSG00000175264 carbohydrate sulfotransferase 1 CHST1 Keratan sulfotransferase, carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 C6ST, KSGal6ST Yes Yes Comparative Toxicogenomics Database:8534, Ensembl:ENSG00000175264, GenAtlas:CHST1, GeneCard:CHST1, HGNC:HGNC:1969, HumanCyc Gene:HS10902, ModBase:O43916, NCBI Gene:8534, OMIM:603797, RefSeq DNA:NT_009237, RefSeq Protein:NP_003645, RefSeq RNA:NM_003654, UCSC Genome Browser:NM_003654, UniProtKB:O43916 No chr11 45669239 45687206 45647689 45665656 +PA134920179 9486 HGNC:19650 ENSG00000115526 carbohydrate sulfotransferase 10 CHST10 HNK-1ST Yes No Comparative Toxicogenomics Database:9486, Ensembl:ENSG00000115526, GeneCard:CHST10, HGNC:HGNC:19650, HumanCyc Gene:HS03905, ModBase:O43529, NCBI Gene:9486, OMIM:606376, RefSeq DNA:NT_022171, RefSeq Protein:NP_004845, RefSeq RNA:NM_004854, UniProtKB:O43529, UniProtKB:Q53T18 No chr2 101008322 101034130 100391860 100417668 +PA134875681 50515 HGNC:17422 ENSG00000171310 carbohydrate sulfotransferase 11 CHST11 carbohydrate (chondroitin 4) sulfotransferase 11, chondroitin 4-sulfotransferase 1 C4ST, C4ST1, C4St-1, HSA269537 Yes No Comparative Toxicogenomics Database:50515, Ensembl:ENSG00000171310, GeneCard:CHST11, HGNC:HGNC:17422, HumanCyc Gene:HS10284, ModBase:Q9NPF2, NCBI Gene:50515, OMIM:610128, RefSeq DNA:NT_029419, RefSeq Protein:NP_001167453, RefSeq Protein:NP_060883, RefSeq RNA:NM_001173982, RefSeq RNA:NM_018413, UniProtKB:Q9NPF2 No chr12 104850692 105155792 104456914 104762014 +PA134969008 55501 HGNC:17423 ENSG00000136213 carbohydrate sulfotransferase 12 CHST12 carbohydrate (chondroitin 4) sulfotransferase 12, chondroitin 4-sulfotransferase 2 C4S-2, C4ST2 Yes No Comparative Toxicogenomics Database:55501, Ensembl:ENSG00000136213, GeneCard:CHST12, HGNC:HGNC:17423, HumanCyc Gene:HS06130, ModBase:Q9NRB3, NCBI Gene:55501, OMIM:610129, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_061111, RefSeq RNA:NM_018641, UniProtKB:Q9NRB3 No chr7 2443195 2474242 2403489 2434607 +PA134976803 166012 HGNC:21755 ENSG00000180767 carbohydrate sulfotransferase 13 CHST13 carbohydrate (chondroitin 4) sulfotransferase 13, chondroitin 4-sulfotransferase 3 C4ST3 Yes Yes Comparative Toxicogenomics Database:166012, Ensembl:ENSG00000180767, GeneCard:CHST13, HGNC:HGNC:21755, HumanCyc Gene:HS11524, ModBase:Q8NET6, NCBI Gene:166012, OMIM:610124, RefSeq DNA:NT_005612, RefSeq Protein:NP_690849, RefSeq RNA:NM_152889, UniProtKB:Q8NET6 No chr3 126243131 126262134 126524288 126543291 +PA162382258 113189 HGNC:24464 ENSG00000169105 carbohydrate sulfotransferase 14 CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 D4ST-1, D4ST1, HD4ST Yes No Ensembl:ENSG00000169105, GeneCard:CHST14, HGNC:HGNC:24464, HumanCyc Gene:HS09883, ModBase:Q8NCH0, NCBI Gene:113189, OMIM:601776, OMIM:608429, RefSeq DNA:NG_017074, RefSeq DNA:NT_010194, RefSeq Protein:NP_569735, RefSeq RNA:NM_130468, UniProtKB:Q8NCH0 No chr15 40763160 40765357 40470961 40473158 +PA165548385 51363 HGNC:18137 ENSG00000182022 carbohydrate sulfotransferase 15 CHST15 B cell RAG associated protein, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase, carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 BRAG, GALNAC4S-6ST, KIAA0598 Yes No Ensembl:ENSG00000182022, GeneCard:CHST15, HGNC:HGNC:18137, HumanCyc Gene:HS10394, HumanCyc Gene:HS11694, NCBI Gene:51363, OMIM:608277, RefSeq DNA:NT_030059, RefSeq Protein:NP_055678, RefSeq Protein:NP_056976, RefSeq RNA:NM_014863, RefSeq RNA:NM_015892, UCSC Genome Browser:NM_014863, UniProtKB:Q7LFX5 No chr10 125765669 125853200 124006060 124093684 +PA26502 9435 HGNC:1970 ENSG00000175040 carbohydrate sulfotransferase 2 CHST2 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 C6ST Yes No Comparative Toxicogenomics Database:9435, Ensembl:ENSG00000175040, GenAtlas:CHST2, GeneCard:CHST2, HGNC:HGNC:1970, HumanCyc Gene:HS10869, ModBase:Q9Y4C5, NCBI Gene:9435, OMIM:603798, RefSeq DNA:NT_005612, RefSeq Protein:NP_004258, RefSeq RNA:NM_004267, UCSC Genome Browser:NM_004267, UniProtKB:B3KN17, UniProtKB:Q9Y4C5 No chr3 142838618 142842856 143119776 143124014 +PA26503 9469 HGNC:1971 ENSG00000122863 carbohydrate sulfotransferase 3 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3, chondroitin 6 sulfotransferase 1 C6ST, C6ST1 Yes Yes Comparative Toxicogenomics Database:9469, Ensembl:ENSG00000122863, GenAtlas:CHST3, GeneCard:CHST3, HGNC:HGNC:1971, HumanCyc Gene:HS04610, ModBase:Q7LGC8, NCBI Gene:9469, OMIM:143095, OMIM:603799, OMIM:608637, RefSeq DNA:NG_012635, RefSeq DNA:NT_030059, RefSeq Protein:NP_004264, RefSeq RNA:NM_004273, UCSC Genome Browser:NM_004273, UniProtKB:Q7LGC8 No chr10 73724120 73773322 71964362 72013564 +PA26504 10164 HGNC:1972 ENSG00000140835 carbohydrate sulfotransferase 4 CHST4 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 HEC-GLCNAC-6-ST, LSST Yes No Comparative Toxicogenomics Database:10164, Ensembl:ENSG00000140835, GenAtlas:CHST4, GeneCard:CHST4, HGNC:HGNC:1972, HumanCyc Gene:HS06765, ModBase:Q8NCG5, NCBI Gene:10164, RefSeq DNA:NT_010498, RefSeq Protein:NP_001159867, RefSeq Protein:NP_005760, RefSeq RNA:NM_001166395, RefSeq RNA:NM_005769, UCSC Genome Browser:NM_005769, UniProtKB:Q8NCG5 No chr16 71560023 71572493 71526120 71538590 +PA26505 23563 HGNC:1973 ENSG00000135702 carbohydrate sulfotransferase 5 CHST5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 FLJ22167, I-GLCNAC-6-ST Yes No Comparative Toxicogenomics Database:23563, Ensembl:ENSG00000135702, GenAtlas:CHST5, GeneCard:CHST5, HGNC:HGNC:1973, ModBase:Q9GZS9, NCBI Gene:23563, OMIM:604817, RefSeq DNA:NT_010498, RefSeq Protein:NP_078809, RefSeq RNA:NM_024533, UCSC Genome Browser:NM_012126, UniProtKB:Q9GZS9 No chr16 75562428 75570180 75528530 75535170 +PA26506 4166 HGNC:6938 ENSG00000183196 carbohydrate sulfotransferase 6 CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 MCDC1 Yes No Comparative Toxicogenomics Database:4166, Ensembl:ENSG00000183196, GenAtlas:CHST6, GeneCard:CHST6, HGNC:HGNC:6938, ModBase:Q9GZX3, NCBI Gene:4166, OMIM:217800, OMIM:605294, RefSeq DNA:NG_016442, RefSeq DNA:NT_010498, RefSeq Protein:NP_067628, RefSeq RNA:NM_021615, UCSC Genome Browser:NM_021615, UniProtKB:Q9GZX3 No chr16 75507022 75528926 75473124 75495419 +PA26507 56548 HGNC:13817 ENSG00000147119 carbohydrate sulfotransferase 7 CHST7 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 C6ST-2, C6ST2 Yes No Comparative Toxicogenomics Database:56548, Ensembl:ENSG00000147119, GenAtlas:CHST7, GeneCard:CHST7, HGNC:HGNC:13817, HumanCyc Gene:HS07394, ModBase:Q9NS84, NCBI Gene:56548, OMIM:300375, RefSeq DNA:NT_079573, RefSeq Protein:NP_063939, RefSeq RNA:NM_019886, UCSC Genome Browser:NM_019886, UniProtKB:Q9NS84 No chrX 46433192 46457838 46573687 46598496 +PA26508 64377 HGNC:15993 ENSG00000124302 carbohydrate sulfotransferase 8 CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 GALNAC-4-ST1, GALNAC4ST-1 Yes No Ensembl:ENSG00000124302, GenAtlas:CHST8, GeneCard:CHST8, HGNC:HGNC:15993, HumanCyc Gene:HS04758, ModBase:Q9H2A9, NCBI Gene:64377, OMIM:610190, RefSeq DNA:NT_011109, RefSeq Protein:NP_001121367, RefSeq Protein:NP_001121368, RefSeq Protein:NP_071912, RefSeq RNA:NM_001127895, RefSeq RNA:NM_001127896, RefSeq RNA:NM_022467, UCSC Genome Browser:NM_022467, UniProtKB:Q9H2A9 No chr19 34112861 34264414 33621955 33773509 +PA134888782 83539 HGNC:19898 ENSG00000154080 carbohydrate sulfotransferase 9 CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 GALNAC-4-ST2, GALNAC4ST-2 Yes No Ensembl:ENSG00000154080, GeneCard:CHST9, HGNC:HGNC:19898, HumanCyc Gene:HS07947, NCBI Gene:83539, OMIM:610191, RefSeq DNA:NT_010966, RefSeq Protein:NP_113610, RefSeq RNA:NM_031422, UniProtKB:Q7L1S5 No chr18 24494554 24765302 26908754 27185364 +PA26509 22856 HGNC:17198 ENSG00000131873 chondroitin sulfate synthase 1 CHSY1 CSS1, KIAA0990 Yes No Comparative Toxicogenomics Database:22856, Ensembl:ENSG00000131873, GenAtlas:CHSY1, GeneCard:CHSY1, HGNC:HGNC:17198, HumanCyc Gene:HS13400, ModBase:Q86X52, NCBI Gene:22856, OMIM:608183, RefSeq DNA:NT_010274, RefSeq Protein:NP_055733, RefSeq RNA:NM_014918, UCSC Genome Browser:NM_014918, UniProtKB:Q86X52 No chr15 101715928 101792137 101175723 101251932 +PA162382259 337876 HGNC:24293 ENSG00000198108 chondroitin sulfate synthase 3 CHSY3 CHSY-2, CSS3 Yes No Ensembl:ENSG00000198108, GeneCard:CHSY3, HGNC:HGNC:24293, HumanCyc Gene:HS11959, ModBase:Q70JA7, NCBI Gene:337876, OMIM:609963, RefSeq DNA:NT_034772, RefSeq Protein:NP_787052, RefSeq RNA:NM_175856, UniProtKB:Q70JA7 No chr5 129240389 129522327 129903415 130186637 +PA134908713 63922 HGNC:18435 ENSG00000127586 chromosome transmission fidelity factor 18 CHTF18 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) C16orf41, C321D2.4, CHL12, Ctf18 Yes No Comparative Toxicogenomics Database:63922, Ensembl:ENSG00000127586, GeneCard:CHTF18, HGNC:HGNC:18435, HumanCyc Gene:HS05118, ModBase:Q8WVB6, NCBI Gene:63922, OMIM:613201, RefSeq DNA:NT_010393, RefSeq Protein:NP_071375, RefSeq RNA:NM_022092, UniProtKB:Q8WVB6 No chr16 838622 848074 788622 798074 +PA164717934 54921 HGNC:24353 ENSG00000168802 chromosome transmission fidelity factor 8 CHTF8 CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) CTF8, DERPC, FLJ20400 Yes No Ensembl:ENSG00000168802, GeneCard:CHTF8, HGNC:HGNC:24353, HumanCyc Gene:HS15712, NCBI Gene:54921, OMIM:613202, RefSeq DNA:NT_010498, RefSeq Protein:NP_001034779, RefSeq Protein:NP_001035234, RefSeq Protein:NP_001035236, RefSeq RNA:NM_001039690, RefSeq RNA:NM_001040144, RefSeq RNA:NM_001040146, RefSeq RNA:NR_033227, UniProtKB:P0CG13 No chr16 69151912 69166493 69118009 69132590 +PA142672526 26097 HGNC:24511 ENSG00000160679 chromatin target of PRMT1 CHTOP Friend of Prmt1, small protein rich in arginine and glycine C1orf77, DKFZP547E1010, FOP, SRAG Yes No Ensembl:ENSG00000160679, GeneCard:C1orf77, HGNC:HGNC:24511, ModBase:Q9H034, NCBI Gene:26097, RefSeq DNA:NT_004487, RefSeq Protein:NP_001193541, RefSeq Protein:NP_056422, RefSeq RNA:NM_001206612, RefSeq RNA:NM_015607, UniProtKB:Q9Y3Y2 No chr1 153606458 153618782 153633982 153646306 +PA26510 1147 HGNC:1974 ENSG00000213341 component of inhibitor of nuclear factor kappa B kinase complex CHUK I-kappa-B kinase, conserved helix-loop-helix ubiquitous kinase, inhibitor of nuclear factor kappa-B kinase subunit alpha IKK-alpha, IKK1, IKKA, IkBKA, NFKBIKA, TCF16 Yes Yes Comparative Toxicogenomics Database:1147, Ensembl:ENSG00000213341, GenAtlas:CHUK, GeneCard:CHUK, HGNC:HGNC:1974, HumanCyc Gene:HS03007, ModBase:O15111, NCBI Gene:1147, OMIM:600664, RefSeq DNA:NT_030059, RefSeq Protein:NP_001269, RefSeq RNA:NM_001278, UCSC Genome Browser:NM_001278, UniProtKB:O15111 No chr10 101948123 101989367 100188298 100229610 +PA134982480 91612 HGNC:20099 ENSG00000258289 churchill domain containing 1 CHURC1 C14orf52, FLJ33064, My015 Yes Yes Ensembl:ENSG00000258289, GeneCard:CHURC1, HGNC:HGNC:20099, NCBI Gene:91612, OMIM:608577, RefSeq DNA:NT_026437, RefSeq Protein:NP_001190992, RefSeq Protein:NP_001190993, RefSeq Protein:NP_660148, RefSeq RNA:NM_001204063, RefSeq RNA:NM_001204064, RefSeq RNA:NM_145165, UniProtKB:Q8WUH1 No chr14 65381079 65410635 64914361 64935368 +PA162382269 9391 HGNC:14280 ENSG00000144021 cytosolic iron-sulfur assembly component 1 CIAO1 cytosolic iron-sulfur protein assembly 1 CIA1, WDR39 Yes No Ensembl:ENSG00000144021, GeneCard:CIAO1, HGNC:HGNC:14280, HumanCyc Gene:HS07135, ModBase:O76071, NCBI Gene:9391, OMIM:604333, RefSeq DNA:NT_022171, RefSeq Protein:NP_004795, RefSeq RNA:NM_004804, UniProtKB:O76071 No chr2 96931884 96939917 96266146 96274179 +PA142671829 84191 HGNC:26235 ENSG00000166797 cytosolic iron-sulfur assembly component 2A CIAO2A family with sequence similarity 96, member A CIA2A, FAM96A, FLJ22875 Yes No Ensembl:ENSG00000166797, GeneCard:FAM96A, HGNC:HGNC:26235, HumanCyc Gene:HS15484, ModBase:Q9H5X1, NCBI Gene:84191, RefSeq DNA:NT_010194, RefSeq Protein:NP_001014812, RefSeq Protein:NP_115607, RefSeq RNA:NM_001014812, RefSeq RNA:NM_032231, UniProtKB:B7Z8Z5, UniProtKB:Q9H5X1 No chr15 64364761 64386207 64072559 64094008 +PA142671830 51647 HGNC:24261 ENSG00000166595 cytosolic iron-sulfur assembly component 2B CIAO2B family with sequence similarity 96, member B CGI-128, CIA2B, FAM96B, MIP18 Yes No Ensembl:ENSG00000166595, GeneCard:FAM96B, HGNC:HGNC:24261, HumanCyc Gene:HS15464, ModBase:Q9Y3D0, NCBI Gene:51647, RefSeq DNA:NT_010498, RefSeq Protein:NP_057146, RefSeq RNA:NM_016062, RefSeq RNA:NR_024525, UniProtKB:Q9Y3D0 No chr16 66965958 66968326 66932055 66934423 +PA128394707 64428 HGNC:14179 ENSG00000103245 cytosolic iron-sulfur assembly component 3 CIAO3 iron-only hydrogenase-like protein 1, nuclear prelamin A recognition factor-like FLJ21988, HPRN, IOP1, NAR1, NARFL, PRN Yes No Comparative Toxicogenomics Database:64428, Ensembl:ENSG00000103245, GenAtlas:NARFL, GeneCard:NARFL, HGNC:HGNC:14179, HumanCyc Gene:HS12516, ModBase:Q9H6Q4, NCBI Gene:64428, OMIM:611118, RefSeq DNA:NT_010393, RefSeq Protein:NP_071938, RefSeq RNA:NM_022493, UCSC Genome Browser:NM_022493, UniProtKB:Q9H6Q4 No chr16 779753 790997 729753 741038 +PA134978864 57019 HGNC:28050 ENSG00000005194 cytokine induced apoptosis inhibitor 1 CIAPIN1 Anamorsin CIAE2 Yes No Comparative Toxicogenomics Database:57019, Ensembl:ENSG00000005194, GeneCard:CIAPIN1, HGNC:HGNC:28050, HumanCyc Gene:HS00133, ModBase:Q6FI81, NCBI Gene:57019, OMIM:608943, RefSeq DNA:NT_010498, RefSeq Protein:NP_064709, RefSeq RNA:NM_020313, UniProtKB:Q6FI81 No chr16 57462081 57481439 57428169 57447528 +PA142672109 728599 HGNC:31087 ENSG00000263846 cytokine induced apoptosis inhibitor 1 pseudogene CIAPIN1P HsT2384 Yes No Ensembl:ENSG00000263846, GeneCard:CIAPIN1P, HGNC:HGNC:31087, NCBI Gene:728599, RefSeq DNA:NG_008808, RefSeq DNA:NT_010966 No chr18 24179283 24181291 26599319 26601327 +PA134921053 148523 HGNC:25200 ENSG00000159208 circadian associated repressor of transcription CIART ChIP-derived repressor of network oscillator, chromosome 1 open reading frame 51, computationally highlighted repressor of the network oscillator BC017397, C1orf51, CHRONO Yes No Ensembl:ENSG00000159208, GeneCard:C1orf51, HGNC:HGNC:25200, HumanCyc Gene:HS14745, ModBase:Q8N365, NCBI Gene:148523, RefSeq DNA:NT_004487, RefSeq Protein:NP_653298, RefSeq RNA:NM_144697, UniProtKB:Q8N365 No chr1 150254930 150259505 150282533 150287093 +PA38423 10519 HGNC:16920 ENSG00000185043 calcium and integrin binding 1 CIB1 calcium and integrin binding 1 (calmyrin) CALMYRIN, CIB, KIP, SIP2-28 Yes No Comparative Toxicogenomics Database:10519, Ensembl:ENSG00000185043, GenAtlas:CIB1, GeneCard:CIB1, HGNC:HGNC:16920, ModBase:Q99828, NCBI Gene:10519, OMIM:602293, RefSeq DNA:NT_010274, RefSeq Protein:NP_006375, RefSeq RNA:NM_006384, UCSC Genome Browser:NM_006384, UniProtKB:Q99828 No chr15 90773477 90808991 90230245 90265759 +PA134927274 10518 HGNC:24579 ENSG00000136425 calcium and integrin binding family member 2 CIB2 kinase interacting protein 2 DFNB48, KIP2, USH1J Yes No Comparative Toxicogenomics Database:10518, Ensembl:ENSG00000136425, GeneCard:CIB2, HGNC:HGNC:24579, HumanCyc Gene:HS06158, ModBase:O75838, NCBI Gene:10518, OMIM:605564, RefSeq DNA:NT_010194, RefSeq Protein:NP_006374, RefSeq RNA:NM_006383, UniProtKB:O75838, UniProtKB:Q05BT6 No chr15 78396948 78423877 78104606 78131976 +PA134867741 117286 HGNC:24580 ENSG00000141977 calcium and integrin binding family member 3 CIB3 KIP3 Yes No Ensembl:ENSG00000141977, GeneCard:CIB3, HGNC:HGNC:24580, HumanCyc Gene:HS06883, ModBase:Q96Q77, NCBI Gene:117286, OMIM:610645, RefSeq DNA:NT_011295, RefSeq Protein:NP_473454, RefSeq RNA:NM_054113, UniProtKB:Q96Q77 No chr19 16272179 16284286 16161368 16173525 +PA162382288 130106 HGNC:33703 ENSG00000157884 calcium and integrin binding family member 4 CIB4 Yes No Ensembl:ENSG00000157884, GeneCard:CIB4, HGNC:HGNC:33703, ModBase:A0PJX0, NCBI Gene:130106, OMIM:610646, RefSeq DNA:NT_022184, RefSeq Protein:NP_001025052, RefSeq RNA:NM_001029881, UniProtKB:A0PJX0 No chr2 26804073 26864211 26581202 26641798 +PA166352401 137392 HGNC:30452 CBY1 interacting BAR domain containing 1 CIBAR1 FAM92A, FAM92A1 BARMR1, FLJ38979 Yes No HGNC:HGNC:30452, NCBI Gene:137392 No 0 0 0 0 +PA142671826 339145 HGNC:24781 CBY1 interacting BAR domain containing 2 CIBAR2 """family with sequence similarity 92 member B"", ""family with sequence similarity 92, member B""" FAM92B, FLJ44299 Yes No Comparative Toxicogenomics Database:339145, GeneCard:FAM92B, HGNC:HGNC:24781, ModBase:Q6ZTR7, NCBI Gene:339145, RefSeq DNA:NT_010498, RefSeq Protein:NP_940893, RefSeq RNA:NM_198491, UniProtKB:Q6ZTR7 No chr16 85131964 85146114 85098352 85112508 +PA26513 23152 HGNC:14214 ENSG00000079432 capicua transcriptional repressor CIC KIAA0306 Yes No Comparative Toxicogenomics Database:23152, Ensembl:ENSG00000079432, GenAtlas:CIC, GeneCard:CIC, HGNC:HGNC:14214, HumanCyc Gene:HS01327, ModBase:Q96RK0, NCBI Gene:23152, OMIM:612082, RefSeq DNA:NT_011109, RefSeq Protein:NP_055940, RefSeq RNA:NM_015125, UCSC Genome Browser:NM_015125, UniProtKB:Q96RK0 No chr19 42788734 42799949 42268537 42295796 +PA165660300 100507648 HGNC:38549 ENSG00000274553 capicua transcriptional repressor pseudogene 15 CICP15 Yes No Ensembl:ENSG00000274553, HGNC:HGNC:38549, NCBI Gene:100507648 No chr5 180755133 180758897 181328132 181331896 +PA165696945 100507251 HGNC:37755 ENSG00000230304 capicua transcriptional repressor pseudogene 6 CICP6 Yes No Ensembl:ENSG00000230304, HGNC:HGNC:37755, NCBI Gene:100507251 No chr3 197949512 197953164 198222576 198226350 +PA165751016 100288667 HGNC:37756 ENSG00000233653 capicua transcriptional repressor pseudogene 7 CICP7 Yes No Ensembl:ENSG00000233653, HGNC:HGNC:37756, NCBI Gene:100288667 No chr1 327463 332225 487055 490819 +PA26514 1149 HGNC:1976 ENSG00000176194 cell death inducing DFFA like effector a CIDEA cell death-inducing DFFA-like effector a CIDE-A Yes Yes Comparative Toxicogenomics Database:1149, Ensembl:ENSG00000176194, GenAtlas:CIDEA, GeneCard:CIDEA, HGNC:HGNC:1976, HumanCyc Gene:HS11010, ModBase:O60543, NCBI Gene:1149, OMIM:604440, RefSeq DNA:NT_010859, RefSeq Protein:NP_001270, RefSeq Protein:NP_938031, RefSeq RNA:NM_001279, RefSeq RNA:NM_198289, RefSeq RNA:NR_036468, UCSC Genome Browser:NM_001279, UniProtKB:O60543, UniProtKB:Q8N5P9 No chr18 12254318 12277594 12254319 12277595 +PA26515 27141 HGNC:1977 ENSG00000136305 cell death inducing DFFA like effector b CIDEB cell death-inducing DFFA-like effector b Yes No Comparative Toxicogenomics Database:27141, Ensembl:ENSG00000136305, GenAtlas:CIDEB, GeneCard:CIDEB, HGNC:HGNC:1977, HumanCyc Gene:HS06147, ModBase:Q9UHD4, NCBI Gene:27141, OMIM:604441, RefSeq DNA:NT_026437, RefSeq Protein:NP_055245, RefSeq RNA:NM_014430, UCSC Genome Browser:NM_014430, UniProtKB:Q9UHD4 No chr14 24774393 24780576 24305187 24311377 +PA134923736 63924 HGNC:24229 ENSG00000187288 cell death inducing DFFA like effector c CIDEC cell death-inducing DFFA-like effector c CIDE-3, FLJ20871, Fsp27 Yes No Comparative Toxicogenomics Database:63924, Ensembl:ENSG00000187288, GeneCard:CIDEC, HGNC:HGNC:24229, ModBase:Q96AQ7, NCBI Gene:63924, OMIM:612120, RefSeq DNA:NT_022517, RefSeq Protein:NP_001186480, RefSeq Protein:NP_001186481, RefSeq Protein:NP_001186552, RefSeq Protein:NP_071377, RefSeq RNA:NM_001199551, RefSeq RNA:NM_001199552, RefSeq RNA:NM_001199623, RefSeq RNA:NM_022094, UniProtKB:Q96AQ7 No chr3 9908394 9921938 9866710 9880254 +PA30795 4261 HGNC:7067 ENSG00000179583 class II major histocompatibility complex transactivator CIITA """NLR family, acid domain containing"", ""class II, major histocompatibility complex, transactivator"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing""" C2TA, MHC2TA, NLRA Yes No Comparative Toxicogenomics Database:4261, Ensembl:ENSG00000179583, GenAtlas:CIITA, GeneCard:CIITA, HGNC:HGNC:7067, HumanCyc Gene:HS11394, NCBI Gene:4261, OMIM:126200, OMIM:180300, OMIM:209920, OMIM:600005, RefSeq DNA:NG_009628, RefSeq DNA:NT_010393, RefSeq Protein:NP_000237, RefSeq RNA:NM_000246, UCSC Genome Browser:NM_000246, UniProtKB:P33076, UniProtKB:Q66X48 No chr16 10971055 11018840 10866208 10941562 +PA166352421 22858 HGNC:21219 ciliogenesis associated kinase 1 CILK1 ICK, MAK-related kinase, serine/threonine-protein kinase ICK KIAA0936, LCK2, MGC46090, MRK Yes No HGNC:HGNC:21219, NCBI Gene:22858 No 0 0 0 0 +PA26518 8483 HGNC:1980 ENSG00000138615 cartilage intermediate layer protein CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase CILP1, HsT18872 Yes No Comparative Toxicogenomics Database:8483, Ensembl:ENSG00000138615, GenAtlas:CILP, GeneCard:CILP, HGNC:HGNC:1980, HumanCyc Gene:HS06519, ModBase:O75339, NCBI Gene:8483, OMIM:603489, OMIM:603932, RefSeq DNA:NG_012214, RefSeq DNA:NT_010194, RefSeq Protein:NP_003604, RefSeq RNA:NM_003613, UCSC Genome Browser:NM_003613, UniProtKB:O75339 No chr15 65488337 65503840 65195999 65211608 +PA134970563 148113 HGNC:24213 ENSG00000160161 cartilage intermediate layer protein 2 CILP2 MGC45771 Yes No Ensembl:ENSG00000160161, GeneCard:CILP2, HGNC:HGNC:24213, HumanCyc Gene:HS14798, ModBase:Q8IUL8, NCBI Gene:148113, OMIM:612419, RefSeq DNA:NT_011295, RefSeq Protein:NP_694953, RefSeq RNA:NM_153221, UniProtKB:Q8IUL8 No chr19 19649057 19657468 19538265 19546659 +PA134952791 113746 HGNC:19905 ENSG00000177947 ciliary microtubule associated protein 1A CIMAP1A cancer/testis antigen 135, outer dense fiber of sperm tails 3 CT135, ODF3, SHIPPO1, hSHIPPO Yes No Ensembl:ENSG00000177947, GeneCard:ODF3, HGNC:HGNC:19905, HumanCyc Gene:HS16952, ModBase:Q96PU9, NCBI Gene:113746, OMIM:608356, RefSeq DNA:NT_009237, RefSeq Protein:NP_444510, RefSeq RNA:NM_053280, UniProtKB:Q96PU9 No chr11 196761 200273 196761 200258 +PA162398386 440836 HGNC:34388 ENSG00000177989 ciliary microtubule associated protein 1B CIMAP1B outer dense fiber of sperm tails 3B FAP123, ODF3B Yes No Ensembl:ENSG00000177989, GeneCard:ODF3B, HGNC:HGNC:34388, ModBase:A8MYP8, NCBI Gene:440836, RefSeq DNA:NT_011526, RefSeq Protein:NP_001014440, RefSeq RNA:NM_001014440, UniProtKB:A8MYP8 No chr22 50968836 50971008 50530409 50532579 +PA134930463 161753 HGNC:28735 ENSG00000182950 ciliary microtubule associated protein 1C CIMAP1C outer dense fiber of sperm tails 3 like 1, outer dense fiber of sperm tails 3-like 1 MGC48986, ODF3L1 Yes No Ensembl:ENSG00000182950, GeneCard:ODF3L1, HGNC:HGNC:28735, ModBase:Q8IXM7, NCBI Gene:161753, RefSeq DNA:NT_010194, RefSeq Protein:NP_787077, RefSeq RNA:NM_175881, UniProtKB:Q8IXM7 No chr15 76016319 76020027 75722896 75727688 +PA162398387 284451 HGNC:26841 ENSG00000181781 CIMAP1 family member D CIMAP1D outer dense fiber of sperm tails 3 like 2, outer dense fiber of sperm tails 3-like 2 C19orf19, FLJ40059, ODF3L2 Yes No Ensembl:ENSG00000181781, GeneCard:ODF3L2, HGNC:HGNC:26841, ModBase:Q3SX64, NCBI Gene:284451, RefSeq DNA:NT_011255, RefSeq Protein:NP_872383, RefSeq RNA:NM_182577, UniProtKB:Q3SX64 No chr19 463346 474983 463346 490287 +PA142672425 163747 HGNC:26854 ENSG00000162398 ciliary microtubule associated protein 2 CIMAP2 chromosome 1 open reading frame 177, lymphocyte expansion molecule C1orf177, FLJ40201, LEM, LEXM Yes No Ensembl:ENSG00000162398, GeneCard:C1orf177, HGNC:HGNC:26854, HumanCyc Gene:HS14912, NCBI Gene:163747, RefSeq DNA:NT_032977, RefSeq Protein:NP_001104003, RefSeq Protein:NP_689820, RefSeq RNA:NM_001110533, RefSeq RNA:NM_152607, UniProtKB:Q3ZCV2 No chr1 55271736 55307937 54806063 54842264 +PA142672472 128344 HGNC:27009 ENSG00000173947 ciliary microtubule associated protein 3 CIMAP3 primary cilia formation C1orf88, FLJ23853, PIFO, pitchfork Yes No Ensembl:ENSG00000173947, GeneCard:C1orf88, HGNC:HGNC:27009, NCBI Gene:128344, RefSeq DNA:NT_032977, RefSeq Protein:NP_857594, RefSeq RNA:NM_181643, UniProtKB:Q8TCI5 No chr1 111867285 111895639 111324663 111353017 +PA25793 128602 HGNC:16216 ENSG00000124237 ciliary microtubule inner protein 1 CIMIP1 Low in Lung Cancer 1, chromosome 20 open reading frame 85 C20orf85, LLC1, bA196N14.1 Yes No Ensembl:ENSG00000124237, GenAtlas:C20orf85, GeneCard:C20orf85, HGNC:HGNC:16216, NCBI Gene:128602, RefSeq DNA:NT_011362, RefSeq Protein:NP_848551, RefSeq RNA:NM_178456, UCSC Genome Browser:NM_178456, UniProtKB:Q9H1P6 No chr20 56725983 56736186 58150927 58161130 +PA162387021 401565 HGNC:33818 ENSG00000188163 ciliary microtubule inner protein 2A CIMIP2A """family with sequence similarity 166 member A"", ""family with sequence similarity 166, member A""" FAM166A Yes No Ensembl:ENSG00000188163, GeneCard:FAM166A, HGNC:HGNC:33818, ModBase:Q6J272, NCBI Gene:401565, RefSeq DNA:NT_024000, RefSeq Protein:NP_001001710, RefSeq RNA:NM_001001710, UniProtKB:Q6J272 No chr9 140138037 140142222 137243583 137251193 +PA162387040 730112 HGNC:34242 ENSG00000215187 ciliary microtubule inner protein 2B CIMIP2B """family with sequence similarity 166 member B"", ""family with sequence similarity 166, member B""" FAM166B Yes No Ensembl:ENSG00000215187, GeneCard:FAM166B, HGNC:HGNC:34242, NCBI Gene:730112, RefSeq DNA:NT_008413, RefSeq Protein:NP_001093421, RefSeq Protein:NP_001157782, RefSeq RNA:NM_001099951, RefSeq RNA:NM_001164310, UniProtKB:A8MTA8 No chr9 35561827 35563896 35561830 35563899 +PA166352422 339778 HGNC:27938 ciliary microtubule inner protein 2C CIMIP2C C2orf70, FAM166C, hypothetical protein LOC339778 LOC339778 Yes No HGNC:HGNC:27938, NCBI Gene:339778 No 0 0 0 0 +PA166352423 114841037 HGNC:55126 ciliary microtubule inner protein 3 CIMIP3 GUCA1ANB Yes No HGNC:HGNC:55126, NCBI Gene:114841037 No 0 0 0 0 +PA162378965 339669 HGNC:28568 ENSG00000185264 ciliary microtubule inner protein 4 CIMIP4 testis expressed 33 C22orf33, EAN57, MGC35206, TEX33 Yes No Ensembl:ENSG00000185264, GeneCard:C22orf33, HGNC:HGNC:28568, NCBI Gene:339669, RefSeq DNA:NT_011520, RefSeq Protein:NP_001157329, RefSeq Protein:NP_848647, RefSeq RNA:NM_001163857, RefSeq RNA:NM_178552, UniProtKB:O43247 No chr22 37387160 37403877 36991119 37007864 +PA162379180 130813 HGNC:26324 ENSG00000150873 ciliary microtubule inner protein 5 CIMIP5 chromosome 2 open reading frame 50 C2orf50, FLJ25143 Yes No Ensembl:ENSG00000150873, GeneCard:C2orf50, HGNC:HGNC:26324, NCBI Gene:130813, RefSeq DNA:NT_005334, RefSeq Protein:NP_872306, RefSeq RNA:NM_182500, UniProtKB:Q96LR7 No chr2 11273179 11286916 11133053 11154564 +PA162379532 129852 HGNC:26861 ENSG00000177994 ciliary microtubule inner protein 6 CIMIP6 chromosome 2 open reading frame 73 C2orf73, FLJ40298 Yes No Ensembl:ENSG00000177994, GeneCard:C2orf73, HGNC:HGNC:26861, NCBI Gene:129852, RefSeq DNA:NT_022184, RefSeq Protein:NP_001093866, RefSeq RNA:NM_001100396, UniProtKB:Q8N5S3 No chr2 54558006 54588714 54329961 54383673 +PA166123667 646498 HGNC:44666 ENSG00000236980 ciliary microtubule inner protein 7 CIMIP7 chromosome 3 open reading frame 84 C3orf84 Yes No Ensembl:ENSG00000236980, HGNC:HGNC:44666, NCBI Gene:646498 No chr3 +PA165478684 51550 HGNC:23789 ENSG00000100865 cyclin dependent kinase 2 interacting protein CINP cyclin-dependent kinase 2 interacting protein MGC849 Yes No Ensembl:ENSG00000100865, GeneCard:CINP, HGNC:HGNC:23789, HumanCyc Gene:HS02155, NCBI Gene:51550, OMIM:613362, RefSeq DNA:NT_026437, RefSeq Protein:NP_001171082, RefSeq Protein:NP_001171083, RefSeq Protein:NP_116019, RefSeq RNA:NM_001177611, RefSeq RNA:NM_001177612, RefSeq RNA:NM_032630, UniProtKB:Q9BW66 No chr14 102814619 102829253 102341102 102362916 +PA134887850 57650 HGNC:29302 ENSG00000163507 cellular inhibitor of PP2A CIP2A cancerous inhibitor of protein phosphatase 2A, cell proliferation regulating inhibitor of protein phosphatase 2A CIP2A, KIAA1524 Yes No Ensembl:ENSG00000163507, GeneCard:KIAA1524, HGNC:HGNC:29302, HumanCyc Gene:HS15071, NCBI Gene:57650, OMIM:610643, RefSeq DNA:NT_005612, RefSeq Protein:NP_065941, RefSeq RNA:NM_020890, UniProtKB:Q8TCG1 No chr3 108268716 108308491 108545752 108589644 +PA134877961 85457 HGNC:20365 ENSG00000198894 CLOCK interacting pacemaker CIPC """CLOCK-interacting pacemaker"", ""CLOCK-interacting protein, circadian""" KIAA1737 Yes No Ensembl:ENSG00000198894, GeneCard:KIAA1737, HGNC:HGNC:20365, ModBase:Q9C0C6, NCBI Gene:85457, RefSeq DNA:NT_026437, RefSeq Protein:NP_219494, RefSeq RNA:NM_033426, UniProtKB:Q9C0C6 No chr14 77564578 77583630 77098235 77117287 +PA165696415 9541 HGNC:24217 ENSG00000138433 corepressor interacting with RBPJ, CIR1 CIR1 """CBF1 interacting corepressor"", ""corepressor interacting with RBPJ, 1"", ""recepin""" CIR Yes No Ensembl:ENSG00000138433, GeneCard:CIR1, HGNC:HGNC:24217, HumanCyc Gene:HS06504, NCBI Gene:9541, OMIM:605228, RefSeq DNA:NT_005403, RefSeq Protein:NP_004873, RefSeq RNA:NM_004882, UCSC Genome Browser:NM_004882, UniProtKB:Q86X95 No chr2 175212878 175260443 174348150 174395715 +PA26519 1153 HGNC:1982 ENSG00000099622 cold inducible RNA binding protein CIRBP Cold-inducible RNA-binding protein, glycine-rich RNA binding protein CIRP Yes No Comparative Toxicogenomics Database:1153, Ensembl:ENSG00000099622, GenAtlas:CIRBP, GeneCard:CIRBP, HGNC:HGNC:1982, HumanCyc Gene:HS01899, ModBase:Q14011, NCBI Gene:1153, OMIM:602649, RefSeq DNA:NT_011255, RefSeq Protein:NP_001271, RefSeq RNA:NM_001280, RefSeq RNA:NR_023312, RefSeq RNA:NR_023313, UCSC Genome Browser:NM_001280, UniProtKB:Q14011, UniProtKB:Q53XX5 No chr19 1269267 1274809 1269266 1274810 +PA134886899 148046 HGNC:28588 ENSG00000267493 CIRBP antisense RNA 1 CIRBP-AS1 MGC39338 Yes No Ensembl:ENSG00000267493, GeneCard:C19orf23, HGNC:HGNC:28588, NCBI Gene:148046, RefSeq DNA:NT_011255, RefSeq RNA:NR_027271 No chr19 1267470 1270259 1267471 1270260 +PA166352424 100128908 HGNC:53647 ciliated left-right organizer metallopeptidase CIROP LMLN2 Yes No HGNC:HGNC:53647, NCBI Gene:100128908 No 0 0 0 0 +PA162382289 55847 HGNC:30880 ENSG00000122873 CDGSH iron sulfur domain 1 CISD1 C10orf70, MDS029, ZCD1, mitoNEET Yes No Comparative Toxicogenomics Database:55847, Ensembl:ENSG00000122873, GeneCard:CISD1, HGNC:HGNC:30880, HumanCyc Gene:HS13073, NCBI Gene:55847, OMIM:611932, RefSeq DNA:NT_008583, RefSeq DNA:NT_030059, RefSeq Protein:NP_060934, RefSeq RNA:NM_018464, UniProtKB:Q9NZ45 No chr10 60028862 60050752 58269102 58290553 +PA162382300 493856 HGNC:24212 ENSG00000145354 CDGSH iron sulfur domain 2 CISD2 endoplasmic reticulum intermembrane small protein, mitoNEET related 1, nutrient-deprivation autophagy factor-1 ERIS, Miner1, NAF-1, WFS2, ZCD2 Yes No Comparative Toxicogenomics Database:493856, Ensembl:ENSG00000145354, GeneCard:CISD2, HGNC:HGNC:24212, ModBase:Q8N5K1, NCBI Gene:493856, OMIM:604928, OMIM:611507, RefSeq DNA:NG_008636, RefSeq DNA:NT_016354, RefSeq Protein:NP_001008389, RefSeq RNA:NM_001008388, UniProtKB:Q8N5K1 No chr4 103749224 103813964 102868978 102892807 +PA162382311 284106 HGNC:27578 ENSG00000277972 CDGSH iron sulfur domain 3 CISD3 mitoNEET related 2 MiNT, Miner2 Yes No Ensembl:ENSG00000277972, GeneCard:CISD3, HGNC:HGNC:27578, NCBI Gene:284106, OMIM:611933, RefSeq DNA:NT_010783, RefSeq Protein:NP_001129970, RefSeq RNA:NM_001136498, UniProtKB:P0C7P0 No chr17 36886510 36891858 38730257 38735605 +PA26521 1154 HGNC:1984 ENSG00000114737 cytokine inducible SH2 containing protein CISH cytokine inducible SH2-containing protein CIS, CIS-1, G18, SOCS Yes No Comparative Toxicogenomics Database:1154, Ensembl:ENSG00000114737, GenAtlas:CISH, GeneCard:CISH, HGNC:HGNC:1984, HumanCyc Gene:HS03792, ModBase:Q9NSE2, NCBI Gene:1154, OMIM:602441, RefSeq DNA:NG_023194, RefSeq DNA:NT_022517, RefSeq Protein:NP_037456, RefSeq Protein:NP_659508, RefSeq RNA:NM_013324, RefSeq RNA:NM_145071, UCSC Genome Browser:NM_013324, UniProtKB:Q9NSE2 No chr3 50643885 50649262 50606454 50611831 +PA166352425 729966 HGNC:55823 colon, intestine and stomach enriched 1 CIST1 Yes No HGNC:HGNC:55823, NCBI Gene:729966 No 0 0 0 0 +PA26522 11113 HGNC:1985 ENSG00000122966 citron rho-interacting serine/threonine kinase CIT """citron (rho-interacting, serine/threonine kinase 21)"", ""serine/threonine kinase 21""" CITK, CRIK, KIAA0949, STK21 Yes No Comparative Toxicogenomics Database:11113, Ensembl:ENSG00000122966, GenAtlas:CIT, GeneCard:CIT, HGNC:HGNC:1985, HumanCyc Gene:HS04618, ModBase:O14578, NCBI Gene:11113, OMIM:605629, RefSeq DNA:NT_009775, RefSeq Protein:NP_001193928, RefSeq Protein:NP_009105, RefSeq RNA:NM_001206999, RefSeq RNA:NM_007174, UCSC Genome Browser:NM_007174, UniProtKB:O14578 No chr12 120123595 120315095 119685790 119877318 +PA26523 4435 HGNC:1986 ENSG00000125931 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 MSG1 Yes No Comparative Toxicogenomics Database:4435, Ensembl:ENSG00000125931, GenAtlas:CITED1, GeneCard:CITED1, HGNC:HGNC:1986, HumanCyc Gene:HS04971, ModBase:Q99966, NCBI Gene:4435, OMIM:300149, RefSeq DNA:NG_015847, RefSeq DNA:NT_011669, RefSeq Protein:NP_001138357, RefSeq Protein:NP_001138358, RefSeq Protein:NP_001138359, RefSeq Protein:NP_004134, RefSeq RNA:NM_001144885, RefSeq RNA:NM_001144886, RefSeq RNA:NM_001144887, RefSeq RNA:NM_004143, UCSC Genome Browser:NM_004143, UniProtKB:Q99966 No chrX 71521488 71527037 72301638 72307187 +PA26524 10370 HGNC:1987 ENSG00000164442 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 MRG1 Yes No Comparative Toxicogenomics Database:10370, Ensembl:ENSG00000164442, GenAtlas:CITED2, GeneCard:CITED2, HGNC:HGNC:1987, HumanCyc Gene:HS09083, ModBase:Q99967, NCBI Gene:10370, OMIM:602937, RefSeq DNA:NG_016169, RefSeq DNA:NT_025741, RefSeq Protein:NP_001161860, RefSeq Protein:NP_001161861, RefSeq Protein:NP_006070, RefSeq RNA:NM_001168388, RefSeq RNA:NM_001168389, RefSeq RNA:NM_006079, UCSC Genome Browser:NM_006079, UniProtKB:Q99967 No chr6 139693392 139695787 139372255 139374650 +PA38643 163732 HGNC:18696 ENSG00000179862 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 CITED4 """Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4"", ""transcriptional co-activator 4""" Yes No Comparative Toxicogenomics Database:163732, Ensembl:ENSG00000179862, GenAtlas:CITED4, GeneCard:CITED4, HGNC:HGNC:18696, HumanCyc Gene:HS17374, ModBase:Q96RK1, NCBI Gene:163732, OMIM:606815, RefSeq DNA:NT_032977, RefSeq Protein:NP_597724, RefSeq RNA:NM_133467, UCSC Genome Browser:NM_133467, UniProtKB:Q96RK1 No chr1 41326728 41328018 40861056 40862346 +PA134883336 25792 HGNC:16744 ENSG00000148337 CDKN1A interacting zinc finger protein 1 CIZ1 LSFR1, ZNF356 Yes No Comparative Toxicogenomics Database:25792, Ensembl:ENSG00000148337, GeneCard:CIZ1, HGNC:HGNC:16744, HumanCyc Gene:HS07516, ModBase:Q9ULV3, NCBI Gene:25792, OMIM:611420, RefSeq DNA:NT_008470, RefSeq Protein:NP_001124487, RefSeq Protein:NP_001124488, RefSeq Protein:NP_001124489, RefSeq Protein:NP_001124490, RefSeq Protein:NP_036259, RefSeq RNA:NM_001131015, RefSeq RNA:NM_001131016, RefSeq RNA:NM_001131017, RefSeq RNA:NM_001131018, RefSeq RNA:NM_012127, UniProtKB:A8K9J8, UniProtKB:B4E0A3, UniProtKB:B4E131, UniProtKB:Q5SYW3, UniProtKB:Q8WU72, UniProtKB:Q9BTG3, UniProtKB:Q9H868, UniProtKB:Q9ULV3 No chr9 130928344 130966662 128166065 128204383 +PA26526 26586 HGNC:1990 ENSG00000136108 cytoskeleton associated protein 2 CKAP2 tumor-associated microtubule-associated protein FLJ10749, LB1, TMAP, se20-10 Yes No Comparative Toxicogenomics Database:26586, Ensembl:ENSG00000136108, GenAtlas:CKAP2, GeneCard:CKAP2, HGNC:HGNC:1990, HumanCyc Gene:HS13613, ModBase:Q9H012, NCBI Gene:26586, OMIM:611569, RefSeq DNA:NT_024524, RefSeq Protein:NP_001091995, RefSeq Protein:NP_060674, RefSeq RNA:NM_001098525, RefSeq RNA:NM_018204, UCSC Genome Browser:NM_018204, UniProtKB:Q8WWK9 No chr13 53029495 53050763 52455360 52476631 +PA144596448 150468 HGNC:26877 ENSG00000169607 cytoskeleton associated protein 2 like CKAP2L cytoskeleton associated protein 2-like, radial fiber and mitotic spindle FLJ40629, radmis Yes No Ensembl:ENSG00000169607, GeneCard:CKAP2L, HGNC:HGNC:26877, HumanCyc Gene:HS15791, NCBI Gene:150468, RefSeq DNA:NT_022135, RefSeq Protein:NP_689728, RefSeq RNA:NM_152515, UniProtKB:Q8IYA6 No chr2 113495444 113522254 112736349 112764677 +PA26527 10970 HGNC:16991 ENSG00000136026 cytoskeleton associated protein 4 CKAP4 cytoskeleton-associated protein 4 CLIMP-63, CLIMP63, ERGIC-63, P63 Yes No Comparative Toxicogenomics Database:10970, Ensembl:ENSG00000136026, GenAtlas:CKAP4, GeneCard:CKAP4, HGNC:HGNC:16991, HumanCyc Gene:HS06105, ModBase:Q07065, NCBI Gene:10970, RefSeq DNA:NT_029419, RefSeq Protein:NP_006816, RefSeq RNA:NM_006825, UCSC Genome Browser:NM_006825, UniProtKB:Q07065 No chr12 106631659 106641713 106237881 106247935 +PA142672107 9793 HGNC:28959 ENSG00000175216 cytoskeleton associated protein 5 CKAP5 KIAA0097, TOG, TOGp, ch-TOG Yes No Ensembl:ENSG00000175216, GeneCard:CKAP5, HGNC:HGNC:28959, HumanCyc Gene:HS10898, ModBase:Q14008, NCBI Gene:9793, OMIM:611142, RefSeq DNA:NT_009237, RefSeq Protein:NP_001008938, RefSeq Protein:NP_055571, RefSeq RNA:NM_001008938, RefSeq RNA:NM_014756, UniProtKB:Q14008 No chr11 46765084 46867859 46743534 46846308 +PA26528 1152 HGNC:1991 ENSG00000166165 creatine kinase B CKB """creatine kinase brain-type"", ""creatine kinase, brain""" CKBB Yes No Comparative Toxicogenomics Database:1152, Ensembl:ENSG00000166165, GenAtlas:CKB, GeneCard:CKB, HGNC:HGNC:1991, HumanCyc Gene:HS09344, ModBase:P12277, NCBI Gene:1152, OMIM:123280, RefSeq DNA:NT_026437, RefSeq Protein:NP_001814, RefSeq RNA:NM_001823, UCSC Genome Browser:NM_001823, UniProtKB:P12277 No chr14 103985995 103989196 103519658 103522859 +PA26530 1157 HGNC:1993 ENSG00000260889 creatine kinase B pseudogene 1 CKBP1 Yes No Ensembl:ENSG00000260889, GenAtlas:CKBP1, GeneCard:CKBP1, HGNC:HGNC:1993, NCBI Gene:1157, RefSeq DNA:NG_001535, RefSeq DNA:NT_010498 No chr16 46876370 46878531 46842458 46844619 +PA26531 51192 HGNC:13253 ENSG00000217555 chemokine like factor CKLF chemokine-like factor C32, CKLF1, CKLF3, CKLF4, HSPC224, UCK-1 Yes No Comparative Toxicogenomics Database:51192, Ensembl:ENSG00000217555, GeneCard:CKLF, HGNC:HGNC:13253, HumanCyc Gene:HS01656, NCBI Gene:51192, RefSeq DNA:NT_010498, RefSeq Protein:NP_001035228, RefSeq Protein:NP_057410, RefSeq Protein:NP_058647, RefSeq Protein:NP_857591, RefSeq Protein:NP_857592, RefSeq RNA:NM_001040138, RefSeq RNA:NM_016326, RefSeq RNA:NM_016951, RefSeq RNA:NM_181640, RefSeq RNA:NM_181641, UCSC Genome Browser:NM_016326, UniProtKB:C9JE38, UniProtKB:Q5BJH6, UniProtKB:Q9UBR5 No chr16 66586466 66603832 66552563 66566287 +PA26532 1158 HGNC:1994 ENSG00000104879 creatine kinase, M-type CKM creatine kinase, muscle CKMM Yes No Comparative Toxicogenomics Database:1158, Ensembl:ENSG00000104879, GenAtlas:CKM, GeneCard:CKM, HGNC:HGNC:1994, HumanCyc Gene:HS02640, ModBase:P06732, NCBI Gene:1158, OMIM:123310, RefSeq DNA:NT_011109, RefSeq Protein:NP_001815, RefSeq RNA:NM_001824, UCSC Genome Browser:NM_001824, UniProtKB:P06732 No chr19 45809671 45826302 45306413 45322977 +PA142672108 548596 HGNC:31736 ENSG00000223572, ENSG00000237289 creatine kinase, mitochondrial 1A CKMT1A CKMT1 Yes No Ensembl:ENSG00000223572, Ensembl:ENSG00000237289, GeneCard:CKMT1A, HGNC:HGNC:31736, NCBI Gene:548596, OMIM:613415, RefSeq DNA:NG_005156, RefSeq DNA:NT_010194, RefSeq Protein:NP_001015001, RefSeq RNA:NM_001015001, UniProtKB:P12532 No chr15 43985084 43991420 43692644 43699222 +PA26533 1159 HGNC:1995 ENSG00000237289 creatine kinase, mitochondrial 1B CKMT1B CKMT, CKMT1, UMTCK Yes No Ensembl:ENSG00000237289, GenAtlas:CKMT1B, GeneCard:CKMT1B, HGNC:HGNC:1995, HumanCyc Gene:HS09498, HumanCyc Gene:HS09820, ModBase:P12532, NCBI Gene:1159, OMIM:123290, RefSeq DNA:NG_005156, RefSeq DNA:NT_010194, RefSeq Protein:NP_066270, RefSeq RNA:NM_020990, UCSC Genome Browser:NM_020990 No chr15 43885055 43891604 43592857 43599406 +PA26534 1160 HGNC:1996 ENSG00000131730 creatine kinase, mitochondrial 2 CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) SMTCK Yes No Comparative Toxicogenomics Database:1160, Ensembl:ENSG00000131730, GenAtlas:CKMT2, GeneCard:CKMT2, HGNC:HGNC:1996, HumanCyc Gene:HS05555, ModBase:P17540, NCBI Gene:1160, OMIM:123295, RefSeq DNA:NT_006713, RefSeq Protein:NP_001093205, RefSeq Protein:NP_001093206, RefSeq Protein:NP_001816, RefSeq RNA:NM_001099735, RefSeq RNA:NM_001099736, RefSeq RNA:NM_001825, UCSC Genome Browser:NM_001825, UniProtKB:P17540 No chr5 80528605 80562217 81233320 81266398 +PA38791 1163 HGNC:19083 ENSG00000173207 CDC28 protein kinase regulatory subunit 1B CKS1B CKS1, ckshs1 Yes No Comparative Toxicogenomics Database:1163, Ensembl:ENSG00000173207, GenAtlas:CKS1B, GeneCard:CKS1B, HGNC:HGNC:19083, HumanCyc Gene:HS10628, HumanCyc Gene:HS11295, ModBase:P61024, NCBI Gene:1163, OMIM:116900, RefSeq DNA:NT_004487, RefSeq Protein:NP_001817, RefSeq RNA:NM_001826, RefSeq RNA:NR_024163, UCSC Genome Browser:NM_001826, UniProtKB:P61024, UniProtKB:Q5T178 No chr1 154947118 154951725 154974642 154979249 +PA134932149 317780 HGNC:20004 ENSG00000258788 CDC28 protein kinase regulatory subunit 1B pseudogene 1 CKS1BP1 Yes No Ensembl:ENSG00000258788, HGNC:HGNC:20004, NCBI Gene:317780, RefSeq DNA:NG_002475, RefSeq DNA:NT_026437 No chr14 96689374 96690167 96223037 96223830 +PA134868095 246714 HGNC:24232 ENSG00000225976 CDC28 protein kinase regulatory subunit 1B pseudogene 2 CKS1BP2 bA192N10.2 Yes No Ensembl:ENSG00000225976, GeneCard:CKS1BP2, HGNC:HGNC:24232, NCBI Gene:246714, RefSeq DNA:NG_001578, RefSeq DNA:NT_008705 No chr10 29986864 29987582 29697935 29698653 +PA134986863 246715 HGNC:24233 ENSG00000268942 CDC28 protein kinase regulatory subunit 1B pseudogene 3 CKS1BP3 Yes No Ensembl:ENSG00000268942, GeneCard:CKS1BP3, HGNC:HGNC:24233, NCBI Gene:246715, RefSeq DNA:NG_001579, RefSeq DNA:NT_006713 No chr5 61807588 61808309 62511761 62512482 +PA165660301 100526793 HGNC:17640 ENSG00000250972 CDC28 protein kinase regulatory subunit 1B pseudogene 5 CKS1BP5 Yes No Ensembl:ENSG00000250972, HGNC:HGNC:17640, NCBI Gene:100526793 No chr5 143818706 143819525 144439143 144439962 +PA35039 137529 HGNC:1999 ENSG00000254331 CDC28 protein kinase regulatory subunit 1B pseudogene 7 CKS1BP7 Yes No Ensembl:ENSG00000254331, GenAtlas:CKS1A, GeneCard:CKS1BP7, HGNC:HGNC:1999, NCBI Gene:137529, RefSeq DNA:NG_001577, RefSeq DNA:NT_008183 No chr8 81556687 81557451 80644452 80645216 +PA26536 1164 HGNC:2000 ENSG00000123975 CDC28 protein kinase regulatory subunit 2 CKS2 Yes No Comparative Toxicogenomics Database:1164, Ensembl:ENSG00000123975, GenAtlas:CKS2, GeneCard:CKS2, HGNC:HGNC:2000, HumanCyc Gene:HS04702, ModBase:P33552, NCBI Gene:1164, OMIM:116901, RefSeq DNA:NT_008470, RefSeq Protein:NP_001818, RefSeq RNA:NM_001827, UCSC Genome Browser:NM_001827, UniProtKB:P33552, UniProtKB:Q6FGI9 No chr9 91926113 91931618 89311195 89316703 +PA38436 23332 HGNC:17088 ENSG00000074054 cytoplasmic linker associated protein 1 CLASP1 CLIP-associating protein 1, multiple asters 1 KIAA0622, MAST1 Yes Yes Ensembl:ENSG00000074054, GenAtlas:CLASP1, GeneCard:CLASP1, HGNC:HGNC:17088, HumanCyc Gene:HS01126, ModBase:Q7Z460, NCBI Gene:23332, OMIM:605852, RefSeq DNA:NT_022135, RefSeq Protein:NP_001135745, RefSeq Protein:NP_001135746, RefSeq Protein:NP_001193980, RefSeq Protein:NP_056097, RefSeq RNA:NM_001142273, RefSeq RNA:NM_001142274, RefSeq RNA:NM_001207051, RefSeq RNA:NM_015282, UCSC Genome Browser:NM_015282, UniProtKB:A2RU21, UniProtKB:Q7Z460 No chr2 122095352 122407052 121337776 121649476 +PA38435 23122 HGNC:17078 ENSG00000163539 cytoplasmic linker associated protein 2 CLASP2 KIAA0627 Yes No Comparative Toxicogenomics Database:23122, Ensembl:ENSG00000163539, GenAtlas:CLASP2, GeneCard:CLASP2, HGNC:HGNC:17078, HumanCyc Gene:HS15078, NCBI Gene:23122, OMIM:605853, RefSeq DNA:NT_022517, RefSeq Protein:NP_001193973, RefSeq Protein:NP_055912, RefSeq RNA:NM_001207044, RefSeq RNA:NM_015097, UniProtKB:O75122, UniProtKB:Q8NB74, UniProtKB:Q96F87 No chr3 33537737 33759705 33496245 33718356 +PA134961731 11129 HGNC:17731 ENSG00000104859 CLK4 associating serine/arginine rich protein CLASRP CLK4-associating serine/arginine rich protein, Clk4 associating SR-related protein CLASP, SFRS16, SWAP2 Yes No Comparative Toxicogenomics Database:11129, Ensembl:ENSG00000104859, GeneCard:SFRS16, HGNC:HGNC:17731, HumanCyc Gene:HS02636, NCBI Gene:11129, RefSeq DNA:NT_011109, RefSeq Protein:NP_008987, RefSeq RNA:NM_007056, UniProtKB:Q8N2M8 No chr19 45542298 45574214 45039040 45070956 +PA134876308 122616 HGNC:20126 ENSG00000140104 clathrin binding box of aftiphilin containing 1 CLBA1 chromosome 14 open reading frame 79 C14orf79 Yes No Ensembl:ENSG00000140104, GeneCard:C14orf79, HGNC:HGNC:20126, HumanCyc Gene:HS13816, ModBase:Q96F83, NCBI Gene:122616, RefSeq DNA:NT_026437, RefSeq Protein:NP_777551, RefSeq RNA:NM_174891, UniProtKB:Q96F83 No chr14 105452125 105466056 104985801 105000310 +PA26541 1178 HGNC:2014 ENSG00000105205 Charcot-Leyden crystal galectin CLC """Charcot-Leyden crystal protein"", ""eosinophil lysophospholipase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"", ""lysolecithin acylhydrolase""" Gal-10, LGALS10, LPPL_HUMAN, MGC149659 Yes No Comparative Toxicogenomics Database:1178, Ensembl:ENSG00000105205, GenAtlas:CLC, GeneCard:CLC, HGNC:HGNC:2014, HumanCyc Gene:HS02691, NCBI Gene:1178, OMIM:153310, RefSeq DNA:NT_011109, RefSeq Protein:NP_001819, RefSeq RNA:NM_001828, UCSC Genome Browser:NM_001828, UniProtKB:C5HZ13, UniProtKB:Q05315 No chr19 40221893 40228669 39731253 39738029 +PA26542 1179 HGNC:2015 ENSG00000016490 chloride channel accessory 1 CLCA1 CLCRG1, CaCC Yes No Comparative Toxicogenomics Database:1179, Ensembl:ENSG00000016490, GenAtlas:CLCA1, GeneCard:CLCA1, HGNC:HGNC:2015, HumanCyc Gene:HS00377, NCBI Gene:1179, OMIM:603906, RefSeq DNA:NT_032977, RefSeq Protein:NP_001276, RefSeq RNA:NM_001285, UCSC Genome Browser:NM_001285, UniProtKB:A8K7I4 No chr1 86934526 86965977 86468843 86500294 +PA26543 9635 HGNC:2016 ENSG00000137975 chloride channel accessory 2 CLCA2 CLCRG2 Yes No Comparative Toxicogenomics Database:9635, Ensembl:ENSG00000137975, GenAtlas:CLCA2, GeneCard:CLCA2, HGNC:HGNC:2016, HumanCyc Gene:HS06430, ModBase:Q9UQC9, NCBI Gene:9635, OMIM:604003, RefSeq DNA:NT_032977, RefSeq Protein:NP_006527, RefSeq RNA:NM_006536, UCSC Genome Browser:NM_006536, UniProtKB:Q9UQC9 No chr1 86889769 86922241 86424086 86456558 +PA26544 9629 HGNC:2017 ENSG00000153923 chloride channel accessory 3, pseudogene CLCA3P Yes No Comparative Toxicogenomics Database:9629, Ensembl:ENSG00000153923, GenAtlas:CLCA3, GeneCard:CLCA3P, HGNC:HGNC:2017, NCBI Gene:9629, OMIM:604337, RefSeq DNA:NT_032977, RefSeq Protein:NP_004912, RefSeq RNA:NM_004921, RefSeq RNA:NR_024604, UCSC Genome Browser:NM_004921 No chr1 87099959 87121059 86634276 86655376 +PA26545 22802 HGNC:2018 ENSG00000016602 chloride channel accessory 4 CLCA4 CaCC2 Yes No Comparative Toxicogenomics Database:22802, Ensembl:ENSG00000016602, GenAtlas:CLCA4, GeneCard:CLCA4, HGNC:HGNC:2018, HumanCyc Gene:HS00378, ModBase:Q14CN2, NCBI Gene:22802, RefSeq DNA:NT_032977, RefSeq Protein:NP_036260, RefSeq RNA:NM_012128, RefSeq RNA:NR_024602, UCSC Genome Browser:NM_012128, UniProtKB:Q14CN2 No chr1 87012759 87046437 86547076 86580758 +PA142672105 23155 HGNC:29675 ENSG00000121940 chloride channel CLIC like 1 CLCC1 Mid1-related chloride channel (yeast), chloride channel CLIC-like 1 MCLC Yes Yes Ensembl:ENSG00000121940, GeneCard:CLCC1, HGNC:HGNC:29675, HumanCyc Gene:HS13035, ModBase:Q96S66, NCBI Gene:23155, RefSeq DNA:NT_032977, RefSeq Protein:NP_001041675, RefSeq Protein:NP_055942, RefSeq RNA:NM_001048210, RefSeq RNA:NM_015127, UniProtKB:Q96S66 No chr1 109472130 109506121 108929508 108963499 +PA142672106 23529 HGNC:17412 ENSG00000175505 cardiotrophin like cytokine factor 1 CLCF1 B-cell stimulating factor 3, cardiotrophin-like cytokine factor 1, cold-induced sweating syndrome 2, novel neurotrophin-1 BSF-3, BSF3, CISS2, CLC, NNT-1, NNT1, NR6 Yes No Ensembl:ENSG00000175505, GeneCard:CLCF1, HGNC:HGNC:17412, HumanCyc Gene:HS10940, ModBase:Q9UBD9, NCBI Gene:23529, OMIM:607672, OMIM:610313, RefSeq DNA:NG_013377, RefSeq DNA:NT_167190, RefSeq Protein:NP_001159684, RefSeq Protein:NP_037378, RefSeq RNA:NM_001166212, RefSeq RNA:NM_013246, UniProtKB:B4DNT4, UniProtKB:Q9UBD9 No chr11 67131635 67141648 67364168 67374177 +PA26546 1180 HGNC:2019 ENSG00000188037 chloride voltage-gated channel 1 CLCN1 """Thomsen disease, autosomal dominant"", ""chloride channel, voltage-sensitive 1""" CLC1, ClC-1 Yes No Comparative Toxicogenomics Database:1180, Ensembl:ENSG00000188037, GenAtlas:CLCN1, GeneCard:CLCN1, HGNC:HGNC:2019, ModBase:P35523, NCBI Gene:1180, OMIM:118425, OMIM:160800, OMIM:255700, RefSeq DNA:NG_009815, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_000074, RefSeq RNA:NM_000083, UCSC Genome Browser:NM_000083, UniProtKB:P35523 No chr7 143013219 143049097 143316126 143352008 +PA26547 1181 HGNC:2020 ENSG00000114859 chloride voltage-gated channel 2 CLCN2 chloride channel, voltage-sensitive 2 CLC2, ClC-2, EJM6 Yes No Comparative Toxicogenomics Database:1181, Ensembl:ENSG00000114859, GenAtlas:CLCN2, GeneCard:CLCN2, HGNC:HGNC:2020, HumanCyc Gene:HS03811, ModBase:P51788, NCBI Gene:1181, OMIM:254770, OMIM:600570, OMIM:607628, OMIM:607631, OMIM:607682, RefSeq DNA:NG_016422, RefSeq DNA:NT_005612, RefSeq Protein:NP_001164558, RefSeq Protein:NP_001164559, RefSeq Protein:NP_001164560, RefSeq Protein:NP_004357, RefSeq RNA:NM_001171087, RefSeq RNA:NM_001171088, RefSeq RNA:NM_001171089, RefSeq RNA:NM_004366, UCSC Genome Browser:NM_004366, UniProtKB:B4DQT9, UniProtKB:B4DZ58, UniProtKB:P51788 No chr3 184063973 184079439 184346185 184361651 +PA26548 1182 HGNC:2021 ENSG00000109572 chloride voltage-gated channel 3 CLCN3 chloride channel, voltage-sensitive 3 CLC3, ClC-3 Yes No Comparative Toxicogenomics Database:1182, Ensembl:ENSG00000109572, GenAtlas:CLCN3, GeneCard:CLCN3, HGNC:HGNC:2021, HumanCyc Gene:HS03238, ModBase:P51790, NCBI Gene:1182, OMIM:600580, RefSeq DNA:NT_016354, RefSeq Protein:NP_001820, RefSeq Protein:NP_776297, RefSeq RNA:NM_001829, RefSeq RNA:NM_173872, UCSC Genome Browser:NM_001829, UniProtKB:P51790 No chr4 170541672 170644338 169620521 169723187 +PA26549 1183 HGNC:2022 ENSG00000073464 chloride voltage-gated channel 4 CLCN4 chloride channel, voltage-sensitive 4 CLC4, ClC-4 Yes No Comparative Toxicogenomics Database:1183, Ensembl:ENSG00000073464, GenAtlas:CLCN4, GeneCard:CLCN4, HGNC:HGNC:2022, HumanCyc Gene:HS01104, ModBase:P51793, NCBI Gene:1183, OMIM:302910, RefSeq DNA:NG_012496, RefSeq DNA:NT_167197, RefSeq Protein:NP_001821, RefSeq RNA:NM_001830, UCSC Genome Browser:NM_001830, UniProtKB:A1L3U1, UniProtKB:P51793 No chrX 10124985 10205700 10156945 10237660 +PA26550 1184 HGNC:2023 ENSG00000171365 chloride voltage-gated channel 5 CLCN5 """Dent disease"", ""chloride channel, voltage-sensitive 5""" CLC5, ClC-5, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2, hClC-K2 Yes No Comparative Toxicogenomics Database:1184, Ensembl:ENSG00000171365, GenAtlas:CLCN5, GeneCard:CLCN5, HGNC:HGNC:2023, HumanCyc Gene:HS10294, ModBase:P51795, NCBI Gene:1184, OMIM:300008, OMIM:300009, OMIM:300554, OMIM:308990, OMIM:310468, RefSeq DNA:NG_007159, RefSeq DNA:NT_086939, RefSeq Protein:NP_000075, RefSeq Protein:NP_001121370, RefSeq Protein:NP_001121371, RefSeq RNA:NM_000084, RefSeq RNA:NM_001127898, RefSeq RNA:NM_001127899, UCSC Genome Browser:NM_000084, UniProtKB:B3KPN6, UniProtKB:B3KRR2, UniProtKB:P51795 No chrX 49687225 49863892 49922615 50099235 +PA26551 1185 HGNC:2024 ENSG00000011021 chloride voltage-gated channel 6 CLCN6 chloride channel, voltage-sensitive 6 CLC-6, ClC-6, KIAA0046 Yes Yes Comparative Toxicogenomics Database:1185, Ensembl:ENSG00000011021, GenAtlas:CLCN6, GeneCard:CLCN6, HGNC:HGNC:2024, HumanCyc Gene:HS00298, ModBase:Q5SNW2, NCBI Gene:1185, OMIM:602726, RefSeq DNA:NG_008766, RefSeq DNA:NT_021937, RefSeq Protein:NP_001277, RefSeq Protein:NP_068503, RefSeq Protein:NP_068504, RefSeq Protein:NP_068505, RefSeq RNA:NM_001286, RefSeq RNA:NM_021735, RefSeq RNA:NM_021736, RefSeq RNA:NM_021737, UCSC Genome Browser:NM_001286, UniProtKB:P51797 No chr1 11866153 11903201 11806096 11843144 +PA26552 1186 HGNC:2025 ENSG00000103249 chloride voltage-gated channel 7 CLCN7 """chloride channel, voltage-sensitive 7"", ""protein phosphatase 1, regulatory subunit 63""" CLC-7, CLC7, ClC-7, OPTA2, PPP1R63 Yes No Comparative Toxicogenomics Database:1186, Ensembl:ENSG00000103249, GenAtlas:CLCN7, GeneCard:CLCN7, HGNC:HGNC:2025, HumanCyc Gene:HS02480, ModBase:P51798, NCBI Gene:1186, OMIM:166600, OMIM:259700, OMIM:602727, OMIM:611490, RefSeq DNA:NG_007567, RefSeq DNA:NT_010393, RefSeq Protein:NP_001107803, RefSeq Protein:NP_001278, RefSeq RNA:NM_001114331, RefSeq RNA:NM_001287, UCSC Genome Browser:NM_001287, UniProtKB:B3KVJ8, UniProtKB:B3KXZ3, UniProtKB:P51798, UniProtKB:Q9BRN4 No chr16 1494934 1525085 1444933 1475084 +PA26553 1187 HGNC:2026 ENSG00000186510 chloride voltage-gated channel Ka CLCNKA """Chloride channel protein ClC-Ka"", ""chloride channel, voltage-sensitive Ka""" CLCK1, ClC-K1, hClC-Ka Yes No Comparative Toxicogenomics Database:1187, Ensembl:ENSG00000186510, GenAtlas:CLCNKA, GeneCard:CLCNKA, HGNC:HGNC:2026, ModBase:P51800, NCBI Gene:1187, OMIM:602024, OMIM:602522, OMIM:613090, RefSeq DNA:NG_009359, RefSeq DNA:NT_004610, RefSeq Protein:NP_001036169, RefSeq Protein:NP_004061, RefSeq RNA:NM_001042704, RefSeq RNA:NM_004070, UCSC Genome Browser:NM_004070, UniProtKB:P51800, UniProtKB:Q5T5Q4 No chr1 16348486 16360548 16021991 16034050 +PA26554 1188 HGNC:2027 ENSG00000184908 chloride voltage-gated channel Kb CLCNKB """Chloride channel protein ClC-Kb"", ""chloride channel, voltage-sensitive Kb""" CLCKB, ClC-K2, ClC-Kb, hClC-Kb Yes No Comparative Toxicogenomics Database:1188, Ensembl:ENSG00000184908, GenAtlas:CLCNKB, GeneCard:CLCNKB, HGNC:HGNC:2027, NCBI Gene:1188, OMIM:602023, OMIM:602522, OMIM:607364, RefSeq DNA:NG_013079, RefSeq DNA:NT_004610, RefSeq Protein:NP_000076, RefSeq Protein:NP_001159417, RefSeq RNA:NM_000085, RefSeq RNA:NM_001165945, UCSC Genome Browser:NM_000085, UniProtKB:B3KUY3, UniProtKB:P51801, UniProtKB:Q8WW53 No chr1 16370231 16383821 16043736 16057326 +PA134924593 266626 HGNC:19257 ENSG00000232305 Charcot-Leyden crystal protein pseudogene 1 CLCP1 Yes No Ensembl:ENSG00000232305, GeneCard:CLCP1, HGNC:HGNC:19257, NCBI Gene:266626, RefSeq DNA:NG_002369, RefSeq DNA:NT_011519 No chr22 17903292 17903899 17424244 17424851 +PA26557 9076 HGNC:2032 ENSG00000163347 claudin 1 CLDN1 senescence-associated epithelial membrane protein 1 ILVASC, SEMP1 Yes No Comparative Toxicogenomics Database:9076, Ensembl:ENSG00000163347, GenAtlas:CLDN1, GeneCard:CLDN1, HGNC:HGNC:2032, HumanCyc Gene:HS08832, NCBI Gene:9076, OMIM:603718, OMIM:607626, RefSeq DNA:NG_021418, RefSeq DNA:NT_005612, RefSeq Protein:NP_066924, RefSeq RNA:NM_021101, UCSC Genome Browser:NM_021101, UniProtKB:A5JSJ9, UniProtKB:O95832 No chr3 190023490 190040235 190305701 190322446 +PA26558 9071 HGNC:2033 ENSG00000134873 claudin 10 CLDN10 CPETRL3, OSP-L Yes No Comparative Toxicogenomics Database:9071, Ensembl:ENSG00000134873, GenAtlas:CLDN10, GeneCard:CLDN10, HGNC:HGNC:2033, HumanCyc Gene:HS05926, NCBI Gene:9071, RefSeq DNA:NT_009952, RefSeq Protein:NP_001153572, RefSeq Protein:NP_008915, RefSeq Protein:NP_878268, RefSeq RNA:NM_001160100, RefSeq RNA:NM_006984, RefSeq RNA:NM_182848, UCSC Genome Browser:NM_006984, UniProtKB:P78369, UniProtKB:Q6IBF9, UniProtKB:Q96N78 No chr13 96085853 96232010 95433588 95579756 +PA26559 5010 HGNC:8514 ENSG00000013297 claudin 11 CLDN11 OSP, OTM Yes Yes Ensembl:ENSG00000013297, GenAtlas:CLDN11, GeneCard:CLDN11, HGNC:HGNC:8514, HumanCyc Gene:HS00343, NCBI Gene:5010, OMIM:601326, RefSeq DNA:NT_005612, RefSeq Protein:NP_001171985, RefSeq Protein:NP_005593, RefSeq RNA:NM_001185056, RefSeq RNA:NM_005602, UCSC Genome Browser:NM_005602, UniProtKB:O75508 No chr3 170136653 170152479 170418865 170434691 +PA166352426 HGNC:29648 claudin 11 C-terminal like CLDN11CL bcm2492 Yes No HGNC:HGNC:29648 No 0 0 0 0 +PA26560 9069 HGNC:2034 ENSG00000157224 claudin 12 CLDN12 Yes No Comparative Toxicogenomics Database:9069, Ensembl:ENSG00000157224, GenAtlas:CLDN12, GeneCard:CLDN12, HGNC:HGNC:2034, HumanCyc Gene:HS08194, NCBI Gene:9069, OMIM:611232, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001172001, RefSeq Protein:NP_001172002, RefSeq Protein:NP_036261, RefSeq RNA:NM_001185072, RefSeq RNA:NM_001185073, RefSeq RNA:NM_012129, UCSC Genome Browser:NM_012129, UniProtKB:P56749 No chr7 90032648 90045268 90403334 90415954 +PA26561 23562 HGNC:2035 ENSG00000159261 claudin 14 CLDN14 DFNB29 Yes No Comparative Toxicogenomics Database:23562, Ensembl:ENSG00000159261, GenAtlas:CLDN14, GeneCard:CLDN14, HGNC:HGNC:2035, HumanCyc Gene:HS08384, NCBI Gene:23562, OMIM:605608, RefSeq DNA:NG_011777, RefSeq DNA:NT_011512, RefSeq Protein:NP_001139549, RefSeq Protein:NP_001139550, RefSeq Protein:NP_001139551, RefSeq Protein:NP_036262, RefSeq Protein:NP_652763, RefSeq RNA:NM_001146077, RefSeq RNA:NM_001146078, RefSeq RNA:NM_001146079, RefSeq RNA:NM_012130, RefSeq RNA:NM_144492, UCSC Genome Browser:NM_012130, UniProtKB:O95500 No chr21 37832919 37948867 36460621 36576569 +PA26562 24146 HGNC:2036 ENSG00000106404 claudin 15 CLDN15 Yes No Comparative Toxicogenomics Database:24146, Ensembl:ENSG00000106404, GenAtlas:CLDN15, GeneCard:CLDN15, HGNC:HGNC:2036, HumanCyc Gene:HS02905, NCBI Gene:24146, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001172009, RefSeq Protein:NP_055158, RefSeq RNA:NM_001185080, RefSeq RNA:NM_014343, UCSC Genome Browser:NM_014343, UniProtKB:P56746 No chr7 100875373 100882101 101232092 101238820 +PA26563 10686 HGNC:2037 ENSG00000113946 claudin 16 CLDN16 """hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"", ""paracellin-1""" HOMG3, PCLN1 Yes No Comparative Toxicogenomics Database:10686, Ensembl:ENSG00000113946, GenAtlas:CLDN16, GeneCard:CLDN16, HGNC:HGNC:2037, HumanCyc Gene:HS03729, NCBI Gene:10686, OMIM:248250, OMIM:603959, RefSeq DNA:NG_008149, RefSeq DNA:NT_005612, RefSeq Protein:NP_006571, RefSeq RNA:NM_006580, UCSC Genome Browser:NM_006580, UniProtKB:Q9Y5I7 No chr3 190105661 190129932 190387872 190412143 +PA26564 26285 HGNC:2038 ENSG00000156282 claudin 17 CLDN17 MGC126552, MGC126554 Yes No Comparative Toxicogenomics Database:26285, Ensembl:ENSG00000156282, GenAtlas:CLDN17, GeneCard:CLDN17, HGNC:HGNC:2038, HumanCyc Gene:HS08114, ModBase:P56750, NCBI Gene:26285, RefSeq DNA:NT_011512, RefSeq Protein:NP_036263, RefSeq RNA:NM_012131, UCSC Genome Browser:NM_012131, UniProtKB:P56750 No chr21 31538241 31538971 30165923 30166653 +PA26565 51208 HGNC:2039 ENSG00000066405 claudin 18 CLDN18 SFTPJ Yes No Comparative Toxicogenomics Database:51208, Ensembl:ENSG00000066405, GenAtlas:CLDN18, GeneCard:CLDN18, HGNC:HGNC:2039, HumanCyc Gene:HS00877, ModBase:P56856, NCBI Gene:51208, OMIM:609210, RefSeq DNA:NT_005612, RefSeq Protein:NP_001002026, RefSeq Protein:NP_057453, RefSeq RNA:NM_001002026, RefSeq RNA:NM_016369, UCSC Genome Browser:NM_016369, UniProtKB:P56856 No chr3 137717658 137752494 137998816 138033652 +PA26566 149461 HGNC:2040 ENSG00000164007 claudin 19 CLDN19 Yes No Comparative Toxicogenomics Database:149461, Ensembl:ENSG00000164007, GenAtlas:CLDN19, GeneCard:CLDN19, HGNC:HGNC:2040, HumanCyc Gene:HS08979, NCBI Gene:149461, OMIM:248190, OMIM:610036, RefSeq DNA:NG_008993, RefSeq DNA:NT_032977, RefSeq Protein:NP_001116867, RefSeq Protein:NP_001172046, RefSeq Protein:NP_683763, RefSeq RNA:NM_001123395, RefSeq RNA:NM_001185117, RefSeq RNA:NM_148960, UCSC Genome Browser:NM_148960, UniProtKB:Q8N6F1 No chr1 43198764 43205925 42733093 42740254 +PA26567 9075 HGNC:2041 ENSG00000165376 claudin 2 CLDN2 Yes No Comparative Toxicogenomics Database:9075, Ensembl:ENSG00000165376, GenAtlas:CLDN2, GeneCard:CLDN2, HGNC:HGNC:2041, HumanCyc Gene:HS09221, NCBI Gene:9075, OMIM:300520, RefSeq DNA:NG_016445, RefSeq DNA:NT_011651, RefSeq Protein:NP_001164563, RefSeq Protein:NP_001164566, RefSeq Protein:NP_065117, RefSeq RNA:NM_001171092, RefSeq RNA:NM_001171095, RefSeq RNA:NM_020384, UCSC Genome Browser:NM_020384, UniProtKB:B2R6B9, UniProtKB:P57739 No chrX 106143394 106174091 106900164 106930861 +PA26568 49861 HGNC:2042 ENSG00000171217 claudin 20 CLDN20 Yes No Ensembl:ENSG00000171217, GenAtlas:CLDN20, GeneCard:CLDN20, HGNC:HGNC:2042, NCBI Gene:49861, RefSeq DNA:NT_025741, RefSeq Protein:NP_001001346, RefSeq RNA:NM_001001346, UniProtKB:P56880 No chr6 155585147 155597682 155264013 155276548 +PA26570 53842 HGNC:2044 ENSG00000177300 claudin 22 CLDN22 CLDN21 Yes No Ensembl:ENSG00000177300, GenAtlas:CLDN22, GeneCard:CLDN22, HGNC:HGNC:2044, ModBase:Q8N7P3, NCBI Gene:53842, RefSeq DNA:NT_016354, RefSeq Protein:NP_001104789, RefSeq RNA:NM_001111319, UniProtKB:Q8N7P3 No chr4 184239220 184241927 183318067 183320774 +PA134961253 137075 HGNC:17591 ENSG00000253958 claudin 23 CLDN23 CLDNL Yes No Comparative Toxicogenomics Database:137075, Ensembl:ENSG00000253958, GeneCard:CLDN23, HGNC:HGNC:17591, ModBase:Q96B33, NCBI Gene:137075, OMIM:609203, RefSeq DNA:NT_077531, RefSeq Protein:NP_919260, RefSeq RNA:NM_194284, UniProtKB:Q96B33 No chr8 8559666 8561617 8702156 8704107 +PA165663373 100132463 HGNC:37200 ENSG00000185758 claudin 24 CLDN24 CLDN21 Yes No Ensembl:ENSG00000185758, GeneCard:CLDN24, HGNC:HGNC:37200, NCBI Gene:100132463, RefSeq DNA:NT_016354, RefSeq Protein:NP_001172078, RefSeq Protein:XP_001714712, RefSeq Protein:XP_001716992, RefSeq Protein:XP_001717022, RefSeq RNA:NM_001185149, RefSeq RNA:XM_001714660, RefSeq RNA:XM_001716940, RefSeq RNA:XM_001716970 No chr4 184242917 184243579 183321764 183322426 +PA165543379 644672 HGNC:37218 ENSG00000228607 claudin 25 CLDN25 Yes No Ensembl:ENSG00000228607, GeneCard:CLDN25, HGNC:HGNC:37218, NCBI Gene:644672, RefSeq DNA:NT_033899, RefSeq Protein:NP_001094859, RefSeq RNA:NM_001101389, UniProtKB:C9JDP6 No chr11 113650518 113651207 113779796 113780485 +PA26571 1365 HGNC:2045 ENSG00000165215 claudin 3 CLDN3 CPE-receptor 2, Clostridium perfringens enterotoxin receptor 2, claudin-3, ventral prostate.1-like protein C7orf1, CPE-R2, CPETR2, HRVP1, RVP1 Yes No Comparative Toxicogenomics Database:1365, Ensembl:ENSG00000165215, GenAtlas:CLDN3, GeneCard:CLDN3, HGNC:HGNC:2045, HumanCyc Gene:HS09203, NCBI Gene:1365, OMIM:602910, RefSeq DNA:NG_012023, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001297, RefSeq RNA:NM_001306, UCSC Genome Browser:NM_001306, UniProtKB:O15551, UniProtKB:Q75L79 No chr7 73183327 73184600 73768997 73770270 +PA166180593 100288814 HGNC:51259 ENSG00000234469 claudin 34 CLDN34 Yes No Ensembl:ENSG00000234469, HGNC:HGNC:51259, NCBI Gene:100288814 No 0 0 0 0 +PA26572 1364 HGNC:2046 ENSG00000189143 claudin 4 CLDN4 Clostridium perfringens enterotoxin receptor 1, Williams-Beuren syndrome chromosomal region 8 protein CPE-R, CPETR, CPETR1, WBSCR8, hCPE-R Yes No Comparative Toxicogenomics Database:1364, Ensembl:ENSG00000189143, GenAtlas:CLDN4, GeneCard:CLDN4, HGNC:HGNC:2046, NCBI Gene:1364, OMIM:602909, RefSeq DNA:NG_012868, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001296, RefSeq RNA:NM_001305, UCSC Genome Browser:NM_001305, UniProtKB:O14493, UniProtKB:Q75L80 No chr7 73245193 73247015 73830863 73832693 +PA26573 7122 HGNC:2047 ENSG00000184113 claudin 5 CLDN5 AWAL, BEC1, CPETRL1, TMVCF Yes No Comparative Toxicogenomics Database:7122, Ensembl:ENSG00000184113, GenAtlas:CLDN5, GeneCard:CLDN5, HGNC:HGNC:2047, NCBI Gene:7122, OMIM:602101, RefSeq DNA:NT_011519, RefSeq Protein:NP_001124333, RefSeq Protein:NP_003268, RefSeq RNA:NM_001130861, RefSeq RNA:NM_003277, UCSC Genome Browser:NM_003277, UniProtKB:O00501 No chr22 19510547 19515068 19523024 19527545 +PA26574 9074 HGNC:2048 ENSG00000184697 claudin 6 CLDN6 Yes No Comparative Toxicogenomics Database:9074, Ensembl:ENSG00000184697, GenAtlas:CLDN6, GeneCard:CLDN6, HGNC:HGNC:2048, NCBI Gene:9074, RefSeq DNA:NT_010393, RefSeq Protein:NP_067018, RefSeq RNA:NM_021195, UCSC Genome Browser:NM_021195, UniProtKB:P56747 No chr16 3064713 3068188 3014712 3018187 +PA26575 1366 HGNC:2049 ENSG00000181885 claudin 7 CLDN7 CEPTRL2, CPETRL2, Hs.84359 Yes No Comparative Toxicogenomics Database:1366, Ensembl:ENSG00000181885, GenAtlas:CLDN7, GeneCard:CLDN7, HGNC:HGNC:2049, HumanCyc Gene:HS11678, NCBI Gene:1366, OMIM:609131, RefSeq DNA:NT_010718, RefSeq Protein:NP_001171951, RefSeq Protein:NP_001171952, RefSeq Protein:NP_001298, RefSeq RNA:NM_001185022, RefSeq RNA:NM_001185023, RefSeq RNA:NM_001307, UCSC Genome Browser:NM_001307, UniProtKB:O95471 No chr17 7163222 7166863 7259903 7263193 +PA26576 9073 HGNC:2050 ENSG00000156284 claudin 8 CLDN8 Yes No Ensembl:ENSG00000156284, GenAtlas:CLDN8, GeneCard:CLDN8, HGNC:HGNC:2050, HumanCyc Gene:HS08115, NCBI Gene:9073, OMIM:611231, RefSeq DNA:NT_011512, RefSeq Protein:NP_955360, RefSeq RNA:NM_199328, UCSC Genome Browser:NM_012132, UniProtKB:P56748 No chr21 31586324 31588469 30214006 30216151 +PA26577 9080 HGNC:2051 ENSG00000213937 claudin 9 CLDN9 Yes No Comparative Toxicogenomics Database:9080, Ensembl:ENSG00000213937, GenAtlas:CLDN9, GeneCard:CLDN9, HGNC:HGNC:2051, HumanCyc Gene:HS11308, NCBI Gene:9080, RefSeq DNA:NT_010393, RefSeq Protein:NP_066192, RefSeq RNA:NM_020982, UCSC Genome Browser:NM_020982, UniProtKB:O95484 No chr16 3062457 3064506 3012456 3014505 +PA25901 56650 HGNC:1322 ENSG00000080822 claudin domain containing 1 CLDND1 C3orf4, Z38 Yes No Comparative Toxicogenomics Database:56650, Ensembl:ENSG00000080822, GenAtlas:CLDND1, GeneCard:CLDND1, HGNC:HGNC:1322, HumanCyc Gene:HS01370, NCBI Gene:56650, RefSeq DNA:NT_005612, RefSeq Protein:NP_001035271, RefSeq Protein:NP_001035272, RefSeq Protein:NP_001035273, RefSeq Protein:NP_001035289, RefSeq Protein:NP_001035290, RefSeq Protein:NP_063948, RefSeq RNA:NM_001040181, RefSeq RNA:NM_001040182, RefSeq RNA:NM_001040183, RefSeq RNA:NM_001040199, RefSeq RNA:NM_001040200, RefSeq RNA:NM_019895, UCSC Genome Browser:NM_019895, UniProtKB:Q9NY35 No chr3 98219628 98241910 98515473 98523066 +PA144596447 125875 HGNC:28511 ENSG00000160318 claudin domain containing 2 CLDND2 MGC33839 Yes No Comparative Toxicogenomics Database:125875, Ensembl:ENSG00000160318, GeneCard:CLDND2, HGNC:HGNC:28511, HumanCyc Gene:HS08487, NCBI Gene:125875, RefSeq DNA:NT_011109, RefSeq Protein:NP_689566, RefSeq RNA:NM_152353, UniProtKB:Q8NHS1 No chr19 51870352 51872498 51366750 51369255 +PA134975011 10462 HGNC:16916 ENSG00000132514 C-type lectin domain containing 10A CLEC10A """C-type lectin domain family 10, member A"", ""macrophage lectin 2 (calcium dependent)""" CD301, CLECSF13, CLECSF14, HML, HML2 Yes No Ensembl:ENSG00000132514, GeneCard:CLEC10A, HGNC:HGNC:16916, HumanCyc Gene:HS05647, ModBase:Q8IUN9, NCBI Gene:10462, OMIM:605999, RefSeq DNA:NT_010718, RefSeq Protein:NP_006335, RefSeq Protein:NP_878910, RefSeq RNA:NM_006344, RefSeq RNA:NM_182906, UniProtKB:Q8IUN9 No chr17 6977856 6983626 7074537 7080635 +PA34996 6320 HGNC:10576 ENSG00000105472 C-type lectin domain containing 11A CLEC11A C-type lectin domain family 11, member A CLECSF3, LSLCL, P47, SCGF Yes No Comparative Toxicogenomics Database:6320, Ensembl:ENSG00000105472, GenAtlas:CLEC11A, GeneCard:CLEC11A, HGNC:HGNC:10576, HumanCyc Gene:HS02745, ModBase:Q9Y240, NCBI Gene:6320, OMIM:604713, RefSeq DNA:NT_011109, RefSeq Protein:NP_002966, RefSeq RNA:NM_002975, UCSC Genome Browser:NM_002975, UniProtKB:Q9Y240 No chr19 51226588 51228981 50723348 50725724 +PA142672094 160364 HGNC:31713 ENSG00000172322 C-type lectin domain family 12 member A CLEC12A """C-type lectin domain family 12, member A"", ""dendritic cell-associated lectin 2"", ""myeloid inhibitory C-type lectin-like receptor""" CD371, CLL-1, DCAL-2, MICL Yes No Comparative Toxicogenomics Database:160364, Ensembl:ENSG00000172322, GeneCard:CLEC12A, HGNC:HGNC:31713, HumanCyc Gene:HS10489, NCBI Gene:160364, OMIM:612088, RefSeq DNA:NT_009714, RefSeq Protein:NP_001193939, RefSeq Protein:NP_612210, RefSeq Protein:NP_963917, RefSeq RNA:NM_001207010, RefSeq RNA:NM_138337, RefSeq RNA:NM_201623, UniProtKB:Q5QGZ9 No chr12 10103915 10147704 9951316 9995209 +PA162382325 387837 HGNC:31966 ENSG00000256660 C-type lectin domain family 12 member B CLEC12B C-type lectin domain family 12, member B Yes No Ensembl:ENSG00000256660, GeneCard:CLEC12B, HGNC:HGNC:31966, ModBase:Q2HXU8, NCBI Gene:387837, RefSeq DNA:NT_009714, RefSeq Protein:NP_001123470, RefSeq Protein:NP_995324, RefSeq RNA:NM_001129998, RefSeq RNA:NM_205852, UniProtKB:Q2HXU8 No chr12 10163231 10171399 10006138 10018800 +PA134890576 161198 HGNC:19832 ENSG00000176435 C-type lectin domain containing 14A CLEC14A C-type lectin domain family 14, member A C14orf27 Yes No Comparative Toxicogenomics Database:161198, Ensembl:ENSG00000176435, GeneCard:CLEC14A, HGNC:HGNC:19832, ModBase:Q86T13, NCBI Gene:161198, RefSeq DNA:NT_026437, RefSeq Protein:NP_778230, RefSeq RNA:NM_175060, UniProtKB:Q86T13 No chr14 38723205 38725575 38254000 38256370 +PA162382340 23274 HGNC:29013 ENSG00000038532 C-type lectin domain containing 16A CLEC16A C-type lectin domain family 16, member A Gop-1, KIAA0350 Yes Yes Ensembl:ENSG00000038532, GeneCard:CLEC16A, HGNC:HGNC:29013, ModBase:Q2KHT3, NCBI Gene:23274, OMIM:611303, RefSeq DNA:NG_016757, RefSeq DNA:NT_010393, RefSeq Protein:NP_056041, RefSeq RNA:NM_015226, UniProtKB:Q2KHT3 No chr16 11038345 11276046 10944488 11193272 +PA164717947 388512 HGNC:34520 ENSG00000187912 C-type lectin domain containing 17A CLEC17A """C-type lectin domain family 17, member A"", ""prolectin""" FLJ45910 Yes No Ensembl:ENSG00000187912, GeneCard:CLEC17A, HGNC:HGNC:34520, NCBI Gene:388512, RefSeq DNA:NT_011295, RefSeq Protein:NP_001191047, RefSeq Protein:NP_997273, RefSeq RNA:NM_001204118, RefSeq RNA:NM_207390, UniProtKB:Q6ZS10 No chr19 14693896 14721956 14580777 14612035 +PA164717976 348174 HGNC:30388 ENSG00000157322 C-type lectin domain family 18 member A CLEC18A """C-type lectin domain family 18, member A"", ""mannose receptor-like""" MRCL Yes No Ensembl:ENSG00000157322, GeneCard:CLEC18A, HGNC:HGNC:30388, NCBI Gene:348174, RefSeq DNA:NT_010498, RefSeq Protein:NP_001129686, RefSeq Protein:NP_872425, RefSeq RNA:NM_001136214, RefSeq RNA:NM_182619, UniProtKB:A5D8T8 No chr16 69984608 69998250 69950233 69968478 +PA164718007 497190 HGNC:33849 ENSG00000140839 C-type lectin domain family 18 member B CLEC18B C-type lectin domain family 18, member B MRCL2 Yes No Ensembl:ENSG00000140839, GeneCard:CLEC18B, HGNC:HGNC:33849, NCBI Gene:497190, RefSeq DNA:NT_010498, RefSeq Protein:NP_001011880, RefSeq RNA:NM_001011880, UniProtKB:Q6UXF7 No chr16 74442529 74455368 74408631 74422248 +PA164718038 283971 HGNC:28538 ENSG00000157335 C-type lectin domain family 18 member C CLEC18C C-type lectin domain family 18, member C MGC34761, MRCL3 Yes No Ensembl:ENSG00000157335, GeneCard:CLEC18C, HGNC:HGNC:28538, HumanCyc Gene:HS08204, NCBI Gene:283971, RefSeq DNA:NT_010498, RefSeq Protein:NP_775890, RefSeq RNA:NM_173619, UniProtKB:Q8NCF0 No chr16 70207928 70221050 70173322 70187147 +PA165449848 728276 HGNC:34522 ENSG00000261210 C-type lectin domain containing 19A CLEC19A C-type lectin domain family 19, member A Yes No Ensembl:ENSG00000261210, GeneCard:CLEC19A, HGNC:HGNC:34522, NCBI Gene:728276 No chr16 19297105 19322269 19285783 19310947 +PA142672097 51267 HGNC:24355 ENSG00000150048 C-type lectin domain family 1 member A CLEC1A C-type lectin domain family 1, member A CLEC-1, CLEC1, MGC34328 Yes No Ensembl:ENSG00000150048, GeneCard:CLEC1A, HGNC:HGNC:24355, HumanCyc Gene:HS07655, ModBase:Q8NC01, NCBI Gene:51267, OMIM:606782, RefSeq DNA:NT_009714, RefSeq Protein:NP_057595, RefSeq RNA:NM_016511, UniProtKB:Q8NC01 No chr12 10223012 10251655 10069504 10099065 +PA142672098 51266 HGNC:24356 ENSG00000165682 C-type lectin domain family 1 member B CLEC1B C-type lectin domain family 1, member B CLEC-2, CLEC2 Yes No Comparative Toxicogenomics Database:51266, Ensembl:ENSG00000165682, GeneCard:CLEC1B, HGNC:HGNC:24356, HumanCyc Gene:HS09268, ModBase:Q9P126, NCBI Gene:51266, OMIM:606783, RefSeq DNA:NT_009714, RefSeq Protein:NP_001092901, RefSeq Protein:NP_057593, RefSeq RNA:NM_001099431, RefSeq RNA:NM_016509, UniProtKB:Q9P126 No chr12 10145660 10153381 9986119 10001894 +PA166180594 400797 HGNC:34521 ENSG00000188585 C-type lectin domain containing 20A CLEC20A FLJ44005, LINC00083, NCRNA00083, RP4-593C16.2 Yes No Ensembl:ENSG00000188585, HGNC:HGNC:34521, NCBI Gene:400797 No 0 0 0 0 +PA142672099 387836 HGNC:24191 ENSG00000188393 C-type lectin domain family 2 member A CLEC2A """C-type lectin domain family 2, member A"", ""keratinocyte-associated C-type lectin"", ""proliferation-induced lymphocyte-associated receptor""" INPE5792, KACL, PILAR, UNQ5792 Yes No Ensembl:ENSG00000188393, GeneCard:CLEC2A, HGNC:HGNC:24191, NCBI Gene:387836, OMIM:612087, RefSeq DNA:NT_009714, RefSeq Protein:NP_001124183, RefSeq RNA:NM_001130711, UniProtKB:Q6UVW9 No chr12 10051272 10084980 9882733 9932430 +PA26582 9976 HGNC:2053 ENSG00000110852 C-type lectin domain family 2 member B CLEC2B C-type lectin domain family 2, member B AICL, CLECSF2, HP10085 Yes No Comparative Toxicogenomics Database:9976, Ensembl:ENSG00000110852, GenAtlas:CLEC2B, GeneCard:CLEC2B, HGNC:HGNC:2053, HumanCyc Gene:HS03346, ModBase:Q92478, NCBI Gene:9976, OMIM:603242, RefSeq DNA:NT_009714, RefSeq Protein:NP_005118, RefSeq RNA:NM_005127, UCSC Genome Browser:NM_005127, UniProtKB:Q92478 No chr12 10004968 10022458 9852369 9869859 +PA142672100 29121 HGNC:14351 ENSG00000069493 C-type lectin domain family 2 member D CLEC2D """C-type lectin domain family 2, member D"", ""C-type lectin related f"", ""lectin-like transcript 1""" CLAX, LLT1, OCIL Yes Yes Comparative Toxicogenomics Database:29121, Ensembl:ENSG00000069493, GeneCard:CLEC2D, HGNC:HGNC:14351, HumanCyc Gene:HS00965, ModBase:Q9UHP7, NCBI Gene:29121, OMIM:605659, RefSeq DNA:NT_009714, RefSeq Protein:NP_001004419, RefSeq Protein:NP_001184246, RefSeq Protein:NP_001184247, RefSeq Protein:NP_001184248, RefSeq Protein:NP_037401, RefSeq RNA:NM_001004419, RefSeq RNA:NM_001197317, RefSeq RNA:NM_001197318, RefSeq RNA:NM_001197319, RefSeq RNA:NM_013269, RefSeq RNA:NR_036693, UniProtKB:Q9UHP7 No chr12 9822304 9852151 9669708 9699555 +PA142672101 154790 HGNC:21969 ENSG00000236279 C-type lectin domain family 2 member L CLEC2L C-type lectin domain family 2, member L FLJ32986 Yes No Ensembl:ENSG00000236279, GeneCard:CLEC2L, HGNC:HGNC:21969, NCBI Gene:154790, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001073980, RefSeq RNA:NM_001080511, UniProtKB:P0C7M8 No chr7 139208674 139229731 139523928 139544985 +PA26578 10143 HGNC:2052 ENSG00000166509 C-type lectin domain family 3 member A CLEC3A C-type lectin domain family 3, member A CLECSF1 Yes No Ensembl:ENSG00000166509, GenAtlas:CLEC3A, GeneCard:CLEC3A, HGNC:HGNC:2052, HumanCyc Gene:HS09412, ModBase:O75596, NCBI Gene:10143, RefSeq DNA:NT_010498, RefSeq Protein:NP_005743, RefSeq RNA:NM_005752, UCSC Genome Browser:NM_005752, UniProtKB:O75596 No chr16 78056443 78066003 78022546 78032106 +PA36590 7123 HGNC:11891 ENSG00000163815 C-type lectin domain family 3 member B CLEC3B C-type lectin domain family 3, member B TN, TNA Yes No Ensembl:ENSG00000163815, GenAtlas:CLEC3B, GeneCard:CLEC3B, HGNC:HGNC:11891, HumanCyc Gene:HS08945, ModBase:P05452, NCBI Gene:7123, OMIM:187520, RefSeq DNA:NT_022517, RefSeq Protein:NP_003269, RefSeq RNA:NM_003278, UCSC Genome Browser:NM_003278, UniProtKB:P05452 No chr3 45067759 45077563 45026207 45036073 +PA26584 50856 HGNC:13257 ENSG00000111729 C-type lectin domain family 4 member A CLEC4A C-type lectin domain family 4, member A CD367, CLECSF6, DCIR, DDB27, hDCIR Yes No Comparative Toxicogenomics Database:50856, Ensembl:ENSG00000111729, GenAtlas:CLEC4A, GeneCard:CLEC4A, HGNC:HGNC:13257, HumanCyc Gene:HS03457, ModBase:Q9UMR7, NCBI Gene:50856, OMIM:605306, RefSeq DNA:NT_009714, RefSeq Protein:NP_057268, RefSeq Protein:NP_919429, RefSeq Protein:NP_919430, RefSeq Protein:NP_919432, RefSeq RNA:NM_016184, RefSeq RNA:NM_194447, RefSeq RNA:NM_194448, RefSeq RNA:NM_194450, UCSC Genome Browser:NM_016184, UniProtKB:Q9UMR7 No chr12 8276228 8291203 8102932 8138607 +PA26585 170482 HGNC:13258 ENSG00000198178 C-type lectin domain family 4 member C CLEC4C C-type lectin domain family 4, member C BDCA2, CD303, CLECSF11, CLECSF7, DLEC, HECL Yes No Ensembl:ENSG00000198178, GenAtlas:CLEC4C, GeneCard:CLEC4C, HGNC:HGNC:13258, ModBase:Q8WTT0, NCBI Gene:170482, OMIM:606677, RefSeq DNA:NT_009714, RefSeq Protein:NP_569708, RefSeq Protein:NP_987099, RefSeq RNA:NM_130441, RefSeq RNA:NM_203503, UCSC Genome Browser:NM_130441, UniProtKB:Q8WTT0 No chr12 7880235 7902069 7729245 7749473 +PA134916109 338339 HGNC:14554 ENSG00000166527 C-type lectin domain family 4 member D CLEC4D """C-type lectin domain family 4, member D"", ""Dectin 3""" CD368, CLECSF8, Dectin-3, MCL, Mpcl Yes No Comparative Toxicogenomics Database:338339, Ensembl:ENSG00000166527, GeneCard:CLEC4D, HGNC:HGNC:14554, ModBase:Q8WXI8, NCBI Gene:338339, OMIM:609964, RefSeq DNA:NT_009714, RefSeq Protein:NP_525126, RefSeq RNA:NM_080387, UniProtKB:Q8WXI8 No chr12 8666136 8674962 8513492 8522366 +PA26586 26253 HGNC:14555 ENSG00000166523 C-type lectin domain family 4 member E CLEC4E """C-type lectin domain family 4, member E"", ""Macrophage-inducible C-type lectin""" CLECSF9, mincle Yes No Ensembl:ENSG00000166523, GenAtlas:CLEC4E, GeneCard:CLEC4E, HGNC:HGNC:14555, HumanCyc Gene:HS09413, ModBase:Q9ULY5, NCBI Gene:26253, OMIM:609962, RefSeq DNA:NT_009714, RefSeq Protein:NP_055173, RefSeq RNA:NM_014358, UCSC Genome Browser:NM_014358, UniProtKB:Q9ULY5 No chr12 8685901 8693558 8533305 8541328 +PA134968842 165530 HGNC:25357 ENSG00000152672 C-type lectin domain family 4 member F CLEC4F C-type lectin domain family 4, member F CLECSF13, FLJ39110, KCLR Yes No Comparative Toxicogenomics Database:165530, Ensembl:ENSG00000152672, GeneCard:CLEC4F, HGNC:HGNC:25357, HumanCyc Gene:HS07845, ModBase:Q8N1N0, NCBI Gene:165530, RefSeq DNA:NT_022184, RefSeq Protein:NP_775806, RefSeq RNA:NM_173535, UniProtKB:Q8N1N0 No chr2 71035775 71047732 70808643 70825235 +PA142672104 339390 HGNC:24591 ENSG00000182566 C-type lectin domain family 4 member G CLEC4G C-type lectin domain family 4, member G LSECtin, UNQ431 Yes No Comparative Toxicogenomics Database:339390, Ensembl:ENSG00000182566, GeneCard:CLEC4G, HGNC:HGNC:24591, ModBase:Q6UXB4, NCBI Gene:339390, RefSeq DNA:NT_077812, RefSeq Protein:NP_940894, RefSeq RNA:NM_198492, UniProtKB:Q08G24, UniProtKB:Q6UXB4, UniProtKB:Q6XYD1 No chr19 7793843 7797057 7728957 7732171 +PA26200 10332 HGNC:13523 ENSG00000104938 C-type lectin domain family 4 member M CLEC4M C-type lectin domain family 4, member M CD209L, CD299, DC-SIGN2, DC-SIGNR, DCSIGNR, HP10347, LSIGN Yes No Comparative Toxicogenomics Database:10332, Ensembl:ENSG00000104938, GenAtlas:CLEC4M, GeneCard:CLEC4M, HGNC:HGNC:13523, HumanCyc Gene:HS02658, ModBase:Q96QP6, NCBI Gene:10332, OMIM:605872, RefSeq DNA:NT_077812, RefSeq Protein:NP_001138376, RefSeq Protein:NP_001138377, RefSeq Protein:NP_001138378, RefSeq Protein:NP_001138379, RefSeq Protein:NP_001138380, RefSeq Protein:NP_001138381, RefSeq Protein:NP_001138382, RefSeq Protein:NP_001138383, RefSeq Protein:NP_055072, RefSeq RNA:NM_001144904, RefSeq RNA:NM_001144905, RefSeq RNA:NM_001144906, RefSeq RNA:NM_001144907, RefSeq RNA:NM_001144908, RefSeq RNA:NM_001144909, RefSeq RNA:NM_001144910, RefSeq RNA:NM_001144911, RefSeq RNA:NM_014257, RefSeq RNA:NR_026707, RefSeq RNA:NR_026708, RefSeq RNA:NR_026709, UCSC Genome Browser:NM_014257, UniProtKB:B4E2Z5, UniProtKB:Q9H2X3 No chr19 7828035 7834491 7763052 7770559 +PA26583 23601 HGNC:2054 ENSG00000258227 C-type lectin domain containing 5A CLEC5A C-type lectin domain family 5, member A CLECSF5, MDL-1 Yes No Comparative Toxicogenomics Database:23601, Ensembl:ENSG00000258227, GenAtlas:CLEC5A, GeneCard:CLEC5A, HGNC:HGNC:2054, HumanCyc Gene:HS01680, ModBase:Q9NY25, NCBI Gene:23601, OMIM:604987, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_037384, RefSeq RNA:NM_013252, UCSC Genome Browser:NM_013252, UniProtKB:A4D1U7, UniProtKB:Q9NY25 No chr7 141627157 141646783 141927356 141947009 +PA26579 93978 HGNC:14556 ENSG00000205846 C-type lectin domain containing 6A CLEC6A C-type lectin domain family 6, member A CLECSF10, dectin-2, hDECTIN-2 Yes No Ensembl:ENSG00000205846, GenAtlas:CLEC6A, GeneCard:CLEC6A, HGNC:HGNC:14556, ModBase:Q6EIG7, NCBI Gene:93978, RefSeq DNA:NT_009714, RefSeq Protein:NP_001007034, RefSeq RNA:NM_001007033, UniProtKB:Q6EIG7 No chr12 8608591 8630926 8455995 8478330 +PA26581 64581 HGNC:14558 ENSG00000172243 C-type lectin domain containing 7A CLEC7A C-type lectin domain family 7, member A CD369, CLECSF12, SCARE2, dectin-1, hDectin-1 Yes No Comparative Toxicogenomics Database:64581, Ensembl:ENSG00000172243, GenAtlas:CLEC7A, GeneCard:CLEC7A, HGNC:HGNC:14558, HumanCyc Gene:HS10478, ModBase:Q9H1K3, NCBI Gene:64581, OMIM:606264, OMIM:613108, RefSeq DNA:NG_016291, RefSeq DNA:NT_009714, RefSeq Protein:NP_072092, RefSeq Protein:NP_922938, RefSeq Protein:NP_922939, RefSeq Protein:NP_922940, RefSeq Protein:NP_922941, RefSeq Protein:NP_922945, RefSeq RNA:NM_022570, RefSeq RNA:NM_197947, RefSeq RNA:NM_197948, RefSeq RNA:NM_197949, RefSeq RNA:NM_197950, RefSeq RNA:NM_197954, UCSC Genome Browser:NM_022570, UniProtKB:Q68D78, UniProtKB:Q96D32, UniProtKB:Q9BXN2 No chr12 10269376 10282868 10116777 10130269 +PA142672093 283420 HGNC:26705 ENSG00000197992 C-type lectin domain containing 9A CLEC9A C-type lectin domain family 9, member A CD370, DNGR-1, HEEE9341, UNQ9341 Yes No Ensembl:ENSG00000197992, GeneCard:CLEC9A, HGNC:HGNC:26705, ModBase:Q6UXN8, NCBI Gene:283420, OMIM:612252, RefSeq DNA:NT_009714, RefSeq Protein:NP_997228, RefSeq RNA:NM_207345, UniProtKB:B0ZBM2, UniProtKB:Q6UXN8 No chr12 10183276 10218612 10030677 10066030 +PA162382341 160365 HGNC:24462 ENSG00000184293 C-type lectin like 1 CLECL1 C-type lectin-like 1, dendritic cell associated lectin 1 DCAL1 Yes No Ensembl:ENSG00000184293, GeneCard:CLECL1, HGNC:HGNC:24462, ModBase:Q8IZS7, NCBI Gene:160365, OMIM:607467, RefSeq DNA:NT_009714, RefSeq Protein:NP_742001, RefSeq RNA:NM_172004, UniProtKB:Q8IZS7 No chr12 9868456 9885895 9715860 9733435 +PA26587 1047 HGNC:2060 ENSG00000153132 calmegin CLGN Yes No Comparative Toxicogenomics Database:1047, Ensembl:ENSG00000153132, GenAtlas:CLGN, GeneCard:CLGN, HGNC:HGNC:2060, HumanCyc Gene:HS07884, ModBase:O14967, NCBI Gene:1047, OMIM:601858, RefSeq DNA:NT_016354, RefSeq Protein:NP_001124147, RefSeq Protein:NP_004353, RefSeq RNA:NM_001130675, RefSeq RNA:NM_004362, UCSC Genome Browser:NM_004362, UniProtKB:O14967 No chr4 141309607 141348815 140388453 140427661 +PA162379359 130162 HGNC:26453 ENSG00000162994 clathrin heavy chain linker domain containing 1 CLHC1 C2orf63, FLJ31438 Yes No Ensembl:ENSG00000162994, GeneCard:C2orf63, HGNC:HGNC:26453, HumanCyc Gene:HS14999, NCBI Gene:130162, RefSeq DNA:NT_022184, RefSeq Protein:NP_001129070, RefSeq Protein:NP_689598, RefSeq RNA:NM_001135598, RefSeq RNA:NM_152385, UniProtKB:Q8NHS4 No chr2 55399683 55459699 55172547 55232563 +PA26588 1192 HGNC:2062 ENSG00000206394, ENSG00000213719, ENSG00000223639, ENSG00000226248, ENSG00000226417, ENSG00000226651, ENSG00000230685 chloride intracellular channel 1 CLIC1 CLCNL1, G6, NCC27, p64CLCP Yes No Comparative Toxicogenomics Database:1192, Ensembl:ENSG00000206394, Ensembl:ENSG00000213719, Ensembl:ENSG00000223639, Ensembl:ENSG00000226248, Ensembl:ENSG00000226417, Ensembl:ENSG00000226651, Ensembl:ENSG00000230685, GenAtlas:CLIC1, GeneCard:CLIC1, HGNC:HGNC:2062, HumanCyc Gene:HS01857, ModBase:O00299, NCBI Gene:1192, OMIM:602872, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001279, RefSeq RNA:NM_001288, UCSC Genome Browser:NM_001288, UniProtKB:O00299, UniProtKB:Q5SRT3 No chr6 31698358 31705095 31730581 31737318 +PA144596446 390363 HGNC:32691 ENSG00000231313 chloride intracellular channel 1 pseudogene 1 CLIC1P1 Yes No Ensembl:ENSG00000231313, GeneCard:CLIC1P1, HGNC:HGNC:32691, NCBI Gene:390363 No chr12 121352207 121352926 120914392 120915323 +PA26589 1193 HGNC:2063 ENSG00000155962 chloride intracellular channel 2 CLIC2 CLCNL2, XAP121 Yes No Comparative Toxicogenomics Database:1193, Ensembl:ENSG00000155962, GenAtlas:CLIC2, GeneCard:CLIC2, HGNC:HGNC:2063, HumanCyc Gene:HS08086, ModBase:O15247, NCBI Gene:1193, OMIM:300138, RefSeq DNA:NG_005114, RefSeq DNA:NG_012497, RefSeq DNA:NT_167198, RefSeq Protein:NP_001280, RefSeq RNA:NM_001289, UCSC Genome Browser:NM_001289, UniProtKB:O15247 No chrX 154505500 154563997 155276207 155334681 +PA26590 9022 HGNC:2064 ENSG00000169583 chloride intracellular channel 3 CLIC3 Yes No Comparative Toxicogenomics Database:9022, Ensembl:ENSG00000169583, GenAtlas:CLIC3, GeneCard:CLIC3, HGNC:HGNC:2064, HumanCyc Gene:HS09972, ModBase:O95833, NCBI Gene:9022, OMIM:606533, RefSeq DNA:NT_024000, RefSeq Protein:NP_004660, RefSeq RNA:NM_004669, UCSC Genome Browser:NM_004669, UniProtKB:O95833 No chr9 139889060 139892200 136994608 136997929 +PA26591 25932 HGNC:13518 ENSG00000169504 chloride intracellular channel 4 CLIC4 CLIC4L, DKFZP566G223, H1, P64H1, huH1, p64H1 Yes No Comparative Toxicogenomics Database:25932, Ensembl:ENSG00000169504, GenAtlas:CLIC4, GeneCard:CLIC4, HGNC:HGNC:13518, HumanCyc Gene:HS09960, ModBase:Q9Y696, NCBI Gene:25932, OMIM:606536, RefSeq DNA:NT_004610, RefSeq Protein:NP_039234, RefSeq RNA:NM_013943, UCSC Genome Browser:NM_013943, UniProtKB:Q6FIC5, UniProtKB:Q9Y696 No chr1 25071760 25170815 24745269 24844324 +PA26592 53405 HGNC:13517 ENSG00000112782 chloride intracellular channel 5 CLIC5 DFNB102 Yes No Comparative Toxicogenomics Database:53405, Ensembl:ENSG00000112782, GenAtlas:CLIC5, GeneCard:CLIC5, HGNC:HGNC:13517, HumanCyc Gene:HS03620, ModBase:Q9NZA1, NCBI Gene:53405, OMIM:607293, RefSeq DNA:NT_007592, RefSeq Protein:NP_001107558, RefSeq Protein:NP_058625, RefSeq RNA:NM_001114086, RefSeq RNA:NM_016929, UCSC Genome Browser:NM_016929, UniProtKB:Q53G01, UniProtKB:Q9NZA1 No chr6 45866188 46048085 45898451 46129809 +PA26593 54102 HGNC:2065 ENSG00000159212 chloride intracellular channel 6 CLIC6 CLIC1L, CLIC5 Yes No Comparative Toxicogenomics Database:54102, Ensembl:ENSG00000159212, GenAtlas:CLIC6, GeneCard:CLIC6, HGNC:HGNC:2065, HumanCyc Gene:HS08374, ModBase:Q96NY7, NCBI Gene:54102, RefSeq DNA:NT_011512, RefSeq Protein:NP_444507, RefSeq RNA:NM_053277, UCSC Genome Browser:NM_053277, UniProtKB:Q96NY7 No chr21 36041612 36090525 34668953 34718227 +PA145149115 9685 HGNC:23186 ENSG00000113282 clathrin interactor 1 CLINT1 CLINT, ENTH, EPNR, KIAA0171 Yes No Comparative Toxicogenomics Database:9685, Ensembl:ENSG00000113282, GeneCard:CLINT1, HGNC:HGNC:23186, HumanCyc Gene:HS12790, ModBase:Q14677, NCBI Gene:9685, OMIM:181510, OMIM:607265, RefSeq DNA:NT_023133, RefSeq Protein:NP_001182484, RefSeq Protein:NP_001182485, RefSeq Protein:NP_055481, RefSeq RNA:NM_001195555, RefSeq RNA:NM_001195556, RefSeq RNA:NM_014666, UniProtKB:Q14677 No chr5 157212751 157286183 157785743 157859175 +PA162382349 6249 HGNC:10461 ENSG00000130779 CAP-Gly domain containing linker protein 1 CLIP1 CAP-GLY domain containing linker protein 1, restin CLIP, CLIP-170, CLIP170, CYLN1, RSN Yes No Ensembl:ENSG00000130779, GeneCard:CLIP1, HGNC:HGNC:10461, HumanCyc Gene:HS05443, ModBase:P30622, NCBI Gene:6249, OMIM:179838, RefSeq DNA:NT_009755, RefSeq Protein:NP_002947, RefSeq Protein:NP_937883, RefSeq RNA:NM_002956, RefSeq RNA:NM_198240, UniProtKB:B3KXA5, UniProtKB:P30622 No chr12 122755981 122907179 122271432 122422956 +PA27085 7461 HGNC:2586 ENSG00000106665 CAP-Gly domain containing linker protein 2 CLIP2 CAP-GLY domain containing linker protein 2 CLIP, CLIP-115, CYLN2, KIAA0291, WBSCR3, WBSCR4, WSCR3, WSCR4 Yes No Ensembl:ENSG00000106665, GenAtlas:CYLN2, GeneCard:CLIP2, GeneCard:CYLN2, HGNC:HGNC:2586, HumanCyc Gene:HS02939, NCBI Gene:7461, OMIM:603432, RefSeq DNA:NG_011830, RefSeq DNA:NT_007758, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_003379, RefSeq Protein:NP_115797, RefSeq RNA:NM_003388, RefSeq RNA:NM_032421, UCSC Genome Browser:NM_003388, UniProtKB:A7E2F7, UniProtKB:Q9UDT6 No chr7 73703805 73820273 74289437 74405943 +PA162382439 25999 HGNC:24314 ENSG00000105270 CAP-Gly domain containing linker protein 3 CLIP3 CAP-GLY domain containing linker protein 3, CLIP-170-related, restin-like 1 CLIPR-59, RSNL1 Yes No Ensembl:ENSG00000105270, GeneCard:CLIP3, HGNC:HGNC:24314, HumanCyc Gene:HS12581, ModBase:Q96DZ5, NCBI Gene:25999, OMIM:607382, RefSeq DNA:NT_011109, RefSeq Protein:NP_001186499, RefSeq Protein:NP_056341, RefSeq RNA:NM_001199570, RefSeq RNA:NM_015526, UniProtKB:Q96DZ5 No chr19 36505562 36523797 36014660 36032895 +PA162382440 79745 HGNC:26108 ENSG00000115295 CAP-Gly domain containing linker protein family member 4 CLIP4 CAP-GLY domain containing linker protein family, member 4 FLJ21069, RSNL2 Yes No Ensembl:ENSG00000115295, GeneCard:CLIP4, HGNC:HGNC:26108, HumanCyc Gene:HS12840, ModBase:Q8N3C7, NCBI Gene:79745, RefSeq DNA:NT_022184, RefSeq Protein:NP_078968, RefSeq RNA:NM_024692, UniProtKB:Q8N3C7 No chr2 29320542 29406679 29097676 29183813 +PA26594 1195 HGNC:2068 ENSG00000013441 CDC like kinase 1 CLK1 CDC-like kinase 1 Yes No Comparative Toxicogenomics Database:1195, Ensembl:ENSG00000013441, GenAtlas:CLK1, GeneCard:CLK1, HGNC:HGNC:2068, HumanCyc Gene:HS00348, ModBase:P49759, NCBI Gene:1195, OMIM:601951, RefSeq DNA:NT_005403, RefSeq Protein:NP_001155879, RefSeq Protein:NP_004062, RefSeq RNA:NM_001162407, RefSeq RNA:NM_004071, RefSeq RNA:NR_027855, RefSeq RNA:NR_027856, UCSC Genome Browser:NM_004071, UniProtKB:B4DFW7, UniProtKB:P49759 No chr2 201717732 201729467 200853009 200864744 +PA26595 1196 HGNC:2069 ENSG00000176444 CDC like kinase 2 CLK2 CDC-like kinase 2 clk2 Yes No Ensembl:ENSG00000176444, GenAtlas:CLK2, GeneCard:CLK2, HGNC:HGNC:2069, HumanCyc Gene:HS11052, ModBase:P49760, NCBI Gene:1196, OMIM:602989, RefSeq DNA:NT_004487, RefSeq DNA:NT_079592, RefSeq Protein:NP_003984, RefSeq RNA:NM_003993, UCSC Genome Browser:NM_001291, UniProtKB:P49760, UniProtKB:Q9BRG8 No chr1 155232659 155243305 155262868 155273529 +PA26597 1198 HGNC:2071 ENSG00000179335 CDC like kinase 3 CLK3 CDC-like kinase 3 clk3 Yes No Comparative Toxicogenomics Database:1198, Ensembl:ENSG00000179335, GenAtlas:CLK3, GeneCard:CLK3, HGNC:HGNC:2071, HumanCyc Gene:HS11371, NCBI Gene:1198, OMIM:602990, RefSeq DNA:NT_010194, RefSeq Protein:NP_001123500, RefSeq Protein:NP_003983, RefSeq RNA:NM_001130028, RefSeq RNA:NM_003992, UCSC Genome Browser:NM_001292, UniProtKB:B3KRI8, UniProtKB:P49761 No chr15 74898327 74922542 74598476 74645418 +PA26598 57396 HGNC:13659 ENSG00000113240 CDC like kinase 4 CLK4 CDC-like kinase 4 Yes No Comparative Toxicogenomics Database:57396, Ensembl:ENSG00000113240, GenAtlas:CLK4, GeneCard:CLK4, HGNC:HGNC:13659, HumanCyc Gene:HS03660, ModBase:Q9HAZ1, NCBI Gene:57396, OMIM:607969, RefSeq DNA:NT_023133, RefSeq Protein:NP_065717, RefSeq RNA:NM_020666, UCSC Genome Browser:NM_020666, UniProtKB:Q9HAZ1 No chr5 178029664 178054093 178602664 178627053 +PA142672095 574028 HGNC:29841 ENSG00000257127 chronic lymphocytic leukemia up-regulated 1 CLLU1 Yes No Ensembl:ENSG00000257127, GeneCard:CLLU1, HGNC:HGNC:29841, NCBI Gene:574028, RefSeq DNA:NT_029419, RefSeq Protein:NP_001020404, RefSeq RNA:NM_001025233, RefSeq RNA:NR_027932, RefSeq RNA:NR_027933 No chr12 92815307 92824778 92421531 92431002 +PA142672096 574016 HGNC:24070 chronic lymphocytic leukemia up-regulated 1 opposite strand CLLU1OS Yes No GeneCard:CLLU1OS, HGNC:HGNC:24070, NCBI Gene:574016, RefSeq DNA:NT_029419, RefSeq Protein:NP_001020403, RefSeq RNA:NM_001025232, UniProtKB:Q5K130 No chr12 92813870 92821924 92420086 92428449 +PA134945356 79789 HGNC:19972 ENSG00000165959 calmin CLMN calmin (calponin-like, transmembrane) FLJ12383, KIAA0500, KIAA1188 Yes Yes Comparative Toxicogenomics Database:79789, Ensembl:ENSG00000165959, GeneCard:CLMN, HGNC:HGNC:19972, HumanCyc Gene:HS09310, ModBase:Q96JQ2, NCBI Gene:79789, OMIM:611121, RefSeq DNA:NT_026437, RefSeq Protein:NP_079010, RefSeq RNA:NM_024734, UniProtKB:Q6NUQ2, UniProtKB:Q96JQ2 No chr14 95648276 95786245 95181939 95319908 +PA166048956 79827 HGNC:24039 ENSG00000166250 CXADR like membrane protein CLMP CXADR-like membrane protein, adipocyte adhesion molecule, adipocyte-specific adhesion molecule, coxsackie- and adenovirus receptor-like membrane protein ACAM, ASAM, FLJ22415 Yes No Ensembl:ENSG00000166250, HGNC:HGNC:24039, NCBI Gene:79827 No chr11 122943020 123066007 123072006 123195305 +PA26601 1201 HGNC:2074 ENSG00000188603, ENSG00000261832 CLN3 lysosomal/endosomal transmembrane protein, battenin CLN3 """CLN3, battenin"", ""ceroid-lipofuscinosis, neuronal 3"", ""juvenile neuronal ceroid lipofuscinosis""" BTN1, BTS, JNCL Yes No Comparative Toxicogenomics Database:1201, Ensembl:ENSG00000188603, Ensembl:ENSG00000261832, GenAtlas:CLN3, GeneCard:CLN3, HGNC:HGNC:2074, ModBase:Q13286, NCBI Gene:1201, OMIM:204200, OMIM:607042, RefSeq DNA:NG_008654, RefSeq DNA:NT_010393, RefSeq Protein:NP_000077, RefSeq Protein:NP_001035897, RefSeq RNA:NM_000086, RefSeq RNA:NM_001042432, UCSC Genome Browser:NM_000086, UniProtKB:Q13286, UniProtKB:Q549S9 No chr16 28488600 28505897 28466653 28492302 +PA26603 1203 HGNC:2076 ENSG00000102805 CLN5 intracellular trafficking protein CLN5 """CLN5, intracellular trafficking protein"", ""ceroid-lipofuscinosis, neuronal 5""" Yes No Comparative Toxicogenomics Database:1203, Ensembl:ENSG00000102805, GenAtlas:CLN5, GeneCard:CLN5, HGNC:HGNC:2076, HumanCyc Gene:HS02415, NCBI Gene:1203, OMIM:256731, OMIM:608102, RefSeq DNA:NG_009064, RefSeq DNA:NT_024524, RefSeq Protein:NP_006484, RefSeq RNA:NM_006493, UCSC Genome Browser:NM_006493, UniProtKB:O75503 No chr13 77566059 77576652 76991924 77002517 +PA26604 54982 HGNC:2077 ENSG00000128973 CLN6 transmembrane ER protein CLN6 """CLN6, transmembrane ER protein"", ""ceroid-lipofuscinosis, neuronal 6, late infantile, variant""" FLJ20561, HsT18960, nclf Yes No Comparative Toxicogenomics Database:54982, Ensembl:ENSG00000128973, GenAtlas:CLN6, GeneCard:CLN6, HGNC:HGNC:2077, HumanCyc Gene:HS13287, ModBase:Q9NWW5, NCBI Gene:54982, OMIM:601780, OMIM:606725, RefSeq DNA:NG_008764, RefSeq DNA:NT_010194, RefSeq Protein:NP_060352, RefSeq RNA:NM_017882, UCSC Genome Browser:NM_017882, UniProtKB:Q9NWW5 No chr15 68499330 68522081 68206992 68229742 +PA26606 2055 HGNC:2079 ENSG00000182372 CLN8 transmembrane ER and ERGIC protein CLN8 """CLN8, transmembrane ER and ERGIC protein"", ""ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)""" C8orf61, EPMR, FLJ39417, TLCD6 Yes No Comparative Toxicogenomics Database:2055, Ensembl:ENSG00000182372, GenAtlas:CLN8, GeneCard:CLN8, HGNC:HGNC:2079, ModBase:Q9UBY8, NCBI Gene:2055, OMIM:600143, OMIM:607837, OMIM:610003, RefSeq DNA:NG_008656, RefSeq DNA:NT_023736, RefSeq Protein:NP_061764, RefSeq RNA:NM_018941, UCSC Genome Browser:NM_018941, UniProtKB:Q9UBY8 No chr8 1703944 1734736 1755778 1786570 +PA164718067 116449 HGNC:17438 ENSG00000109684 cytokine dependent hematopoietic cell linker CLNK cytokine-dependent hematopoietic cell linker, mast cell immunoreceptor signal transducer MIST Yes Yes Ensembl:ENSG00000109684, GeneCard:CLNK, HGNC:HGNC:17438, NCBI Gene:116449, OMIM:611434, RefSeq DNA:NT_006316, RefSeq Protein:NP_443196, RefSeq RNA:NM_052964, UniProtKB:Q7Z7G1 No chr4 10491838 10686386 10489899 10734853 +PA26607 1207 HGNC:2080 ENSG00000074201 chloride nucleotide-sensitive channel 1A CLNS1A """chloride channel, nucleotide-sensitive, 1A"", ""methylosome subunit pICln""" CLCI, ICln Yes No Comparative Toxicogenomics Database:1207, Ensembl:ENSG00000074201, GenAtlas:CLNS1A, GeneCard:CLNS1A, HGNC:HGNC:2080, HumanCyc Gene:HS01130, ModBase:P54105, NCBI Gene:1207, OMIM:602158, RefSeq DNA:NT_167190, RefSeq Protein:NP_001284, RefSeq RNA:NM_001293, UCSC Genome Browser:NM_001293, UniProtKB:P54105 No chr11 77327196 77348851 77616151 77637806 +PA26608 1204 HGNC:2081 ENSG00000213335 chloride channel, nucleotide-sensitive, 1A pseudogene 1 CLNS1AP1 ICln Yes No Ensembl:ENSG00000213335, GenAtlas:CLNS1B, GeneCard:CLNS1AP1, HGNC:HGNC:2081, NCBI Gene:1204, RefSeq DNA:NG_002905, RefSeq DNA:NT_007592 No chr6 54349297 54350651 54484499 54485853 +PA26609 9575 HGNC:2082 ENSG00000134852 clock circadian regulator CLOCK Circadian locomoter output cycles protein kaput KAT13D, KIAA0334, bHLHe8 Yes Yes Comparative Toxicogenomics Database:9575, Ensembl:ENSG00000134852, GenAtlas:CLOCK, GeneCard:CLOCK, HGNC:HGNC:2082, HumanCyc Gene:HS05922, ModBase:O15516, NCBI Gene:9575, OMIM:601851, RefSeq DNA:NT_022853, RefSeq Protein:NP_004889, RefSeq RNA:NM_004898, UCSC Genome Browser:NM_004898, UniProtKB:O15516 No chr4 56294068 56413076 55427901 55547138 +PA162382477 10978 HGNC:16999 ENSG00000172409 cleavage factor polyribonucleotide kinase subunit 1 CLP1 ATP/GTPbinding protein, cleavage and polyadenylation factor I subunit 1, polyribonucleotide 5'-hydroxyl-kinase HEAB, hClp1 Yes No Ensembl:ENSG00000172409, GeneCard:CLP1, HGNC:HGNC:16999, HumanCyc Gene:HS10512, ModBase:Q92989, NCBI Gene:10978, OMIM:608757, RefSeq DNA:NT_167190, RefSeq Protein:NP_001136069, RefSeq Protein:NP_006822, RefSeq RNA:NM_001142597, RefSeq RNA:NM_006831, UniProtKB:B4DTI8, UniProtKB:Q92989 No chr11 57425216 57429337 57657744 57661865 +PA142672092 81570 HGNC:30664 ENSG00000162129 ClpB family mitochondrial disaggregase CLPB """ClpB caseinolytic peptidase B homolog (E. coli)"", ""ClpB homolog, mitochondrial AAA ATPase chaperonin"", ""ankyrin-repeat containing bacterial clp fusion"", ""suppressor of potassium transport defect 3""" ANKCLB, ANKCLP, FLJ13152, HSP78, SKD3 Yes No Ensembl:ENSG00000162129, GeneCard:CLPB, HGNC:HGNC:30664, HumanCyc Gene:HS08645, ModBase:Q9H078, NCBI Gene:81570, RefSeq DNA:NT_167190, RefSeq Protein:NP_110440, RefSeq RNA:NM_030813, UniProtKB:Q9H078 No chr11 72003469 72145724 72292425 72434684 +PA26610 8192 HGNC:2084 ENSG00000125656 caseinolytic mitochondrial matrix peptidase proteolytic subunit CLPP """ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"", ""ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)""" Yes No Ensembl:ENSG00000125656, GenAtlas:CLPP, GeneCard:CLPP, HGNC:HGNC:2084, HumanCyc Gene:HS04911, ModBase:Q16740, NCBI Gene:8192, OMIM:601119, RefSeq DNA:NT_011255, RefSeq Protein:NP_006003, RefSeq RNA:NM_006012, UCSC Genome Browser:NM_006012, UniProtKB:Q16740 No chr19 6361463 6368915 6361452 6368904 +PA26611 1208 HGNC:2085 ENSG00000137392 colipase CLPS """colipase, pancreatic"", ""pancreatic colipase""" Yes No Comparative Toxicogenomics Database:1208, Ensembl:ENSG00000137392, GenAtlas:CLPS, GeneCard:CLPS, HGNC:HGNC:2085, HumanCyc Gene:HS06333, ModBase:P04118, NCBI Gene:1208, OMIM:120105, RefSeq DNA:NT_007592, RefSeq Protein:NP_001823, RefSeq RNA:NM_001832, UCSC Genome Browser:NM_001832, UniProtKB:P04118 No chr6 35762759 35765121 35794982 35797344 +PA134984810 340204 HGNC:21251 ENSG00000204140 colipase like 1 CLPSL1 colipase-like 1 C6orf127, dJ510O8.6 Yes No Ensembl:ENSG00000204140, GeneCard:C6orf127, HGNC:HGNC:21251, ModBase:A2RUU4, NCBI Gene:340204, RefSeq DNA:NT_007592, RefSeq Protein:NP_001010886, RefSeq RNA:NM_001010886, UniProtKB:A2RUU4 No chr6 35748831 35755841 35781054 35794039 +PA134977993 389383 HGNC:21250 ENSG00000196748 colipase like 2 CLPSL2 colipase-like 2 C6orf126, UNQ3045, dJ510O8.5 Yes No Ensembl:ENSG00000196748, GeneCard:C6orf126, HGNC:HGNC:21250, ModBase:Q6UWE3, NCBI Gene:389383, RefSeq DNA:NT_007592, RefSeq Protein:NP_997292, RefSeq RNA:NM_207409, UniProtKB:Q6UWE3 No chr6 35744343 35747329 35776594 35779552 +PA26613 1209 HGNC:2087 ENSG00000104853 CLPTM1 regulator of GABA type A receptor forward trafficking CLPTM1 """CLPTM1, transmembrane protein"", ""cleft lip and palate associated transmembrane protein 1""" Yes No Comparative Toxicogenomics Database:1209, Ensembl:ENSG00000104853, GenAtlas:CLPTM1, GeneCard:CLPTM1, HGNC:HGNC:2087, HumanCyc Gene:HS02634, ModBase:O96005, NCBI Gene:1209, OMIM:604783, RefSeq DNA:NT_011109, RefSeq Protein:NP_001285, RefSeq RNA:NM_001294, RefSeq RNA:NR_040006, RefSeq RNA:NR_040007, UCSC Genome Browser:NM_001294, UniProtKB:O96005 No chr19 45457842 45496604 44954585 44993346 +PA147358156 81037 HGNC:24308 ENSG00000049656 CLPTM1 like CLPTM1L CLPTM1-like, cisplatin resistance related protein CRR9, FLJ14400 Yes No Comparative Toxicogenomics Database:81037, Ensembl:ENSG00000049656, GeneCard:CLPTM1L, HGNC:HGNC:24308, HumanCyc Gene:HS12117, ModBase:Q96KA5, NCBI Gene:81037, OMIM:612585, RefSeq DNA:NT_006576, RefSeq Protein:NP_110409, RefSeq RNA:NM_030782, UniProtKB:Q96KA5 No chr5 1317869 1345180 1317744 1345070 +PA26614 10845 HGNC:2088 ENSG00000166855 caseinolytic mitochondrial matrix peptidase chaperone subunit X CLPX ClpX caseinolytic peptidase X homolog (E. coli), caseinolytic mitochondrial matrix peptidase chaperone subunit Yes No Comparative Toxicogenomics Database:10845, Ensembl:ENSG00000166855, GenAtlas:CLPX, GeneCard:CLPX, HGNC:HGNC:2088, HumanCyc Gene:HS09462, ModBase:O76031, NCBI Gene:10845, RefSeq DNA:NT_010194, RefSeq Protein:NP_006651, RefSeq RNA:NM_006660, UCSC Genome Browser:NM_006660, UniProtKB:O76031 No chr15 65442784 65477563 65148219 65185420 +PA37231 7401 HGNC:12605 ENSG00000163646 clarin 1 CLRN1 RP61, USH3, USH3A Yes No Comparative Toxicogenomics Database:7401, Ensembl:ENSG00000163646, GenAtlas:USH3A, GeneCard:CLRN1, GeneCard:USH3A, HGNC:HGNC:12605, HumanCyc Gene:HS08905, NCBI Gene:7401, OMIM:276902, OMIM:606397, RefSeq DNA:NG_009168, RefSeq DNA:NT_005612, RefSeq Protein:NP_001182723, RefSeq Protein:NP_443721, RefSeq Protein:NP_777367, RefSeq RNA:NM_001195794, RefSeq RNA:NM_052995, RefSeq RNA:NM_174878, UCSC Genome Browser:NM_052995, UniProtKB:P58418 No chr3 150643950 150690786 150926163 150972999 +PA162382499 645104 HGNC:33939 ENSG00000249581 clarin 2 CLRN2 DFNB117 Yes No Ensembl:ENSG00000249581, GeneCard:CLRN2, HGNC:HGNC:33939, NCBI Gene:645104, RefSeq DNA:NT_006316, RefSeq Protein:NP_001073296, RefSeq RNA:NM_001079827, UniProtKB:A0PK11 No chr4 17516788 17528727 17515165 17527104 +PA162382510 119467 HGNC:20795 ENSG00000180745 clarin 3 CLRN3 Usher syndrome type-3A-like protein 1 MGC32871, TMEM12, USH3AL1 Yes No Ensembl:ENSG00000180745, GeneCard:CLRN3, HGNC:HGNC:20795, HumanCyc Gene:HS17557, ModBase:Q8NCR9, NCBI Gene:119467, RefSeq DNA:NT_008818, RefSeq Protein:NP_689524, RefSeq RNA:NM_152311, UniProtKB:Q8NCR9 No chr10 129676114 129691211 127877841 127892947 +PA134920757 63967 HGNC:19715 ENSG00000092853 claspin CLSPN Yes No Comparative Toxicogenomics Database:63967, Ensembl:ENSG00000092853, GeneCard:CLSPN, HGNC:HGNC:19715, HumanCyc Gene:HS01782, ModBase:Q9HAW4, NCBI Gene:63967, OMIM:605434, RefSeq DNA:NT_032977, RefSeq Protein:NP_001177410, RefSeq Protein:NP_071394, RefSeq RNA:NM_001190481, RefSeq RNA:NM_022111, UniProtKB:Q9HAW4 No chr1 36185819 36235568 35720465 35769985 +PA38238 22883 HGNC:17447 ENSG00000171603 calsyntenin 1 CLSTN1 cadherin-related family member 12 CDHR12, CSTN1, KIAA0911 Yes No Comparative Toxicogenomics Database:22883, Ensembl:ENSG00000171603, GenAtlas:CLSTN1, GeneCard:CLSTN1, HGNC:HGNC:17447, HumanCyc Gene:HS10350, ModBase:O94985, NCBI Gene:22883, OMIM:611321, RefSeq DNA:NT_021937, RefSeq Protein:NP_001009566, RefSeq Protein:NP_055759, RefSeq RNA:NM_001009566, RefSeq RNA:NM_014944, UCSC Genome Browser:NM_014944, UniProtKB:B3KMD3, UniProtKB:O94985 No chr1 9789079 9884550 9729021 9824526 +PA38239 64084 HGNC:17448 ENSG00000158258 calsyntenin 2 CLSTN2 cadherin-related family member 13 CDHR13, CS2, CSTN2, FLJ39113 Yes No Comparative Toxicogenomics Database:64084, Ensembl:ENSG00000158258, GenAtlas:CLSTN2, GeneCard:CLSTN2, HGNC:HGNC:17448, HumanCyc Gene:HS08276, ModBase:Q9H4D0, NCBI Gene:64084, OMIM:611323, RefSeq DNA:NT_005612, RefSeq Protein:NP_071414, RefSeq RNA:NM_022131, UCSC Genome Browser:NM_022131, UniProtKB:Q9H4D0 No chr3 139654027 140286919 139935185 140577397 +PA38320 9746 HGNC:18371 ENSG00000139182 calsyntenin 3 CLSTN3 cadherin-related family member 14 CDHR14, CSTN3, KIAA0726 Yes No Ensembl:ENSG00000139182, GenAtlas:CLSTN3, GeneCard:CLSTN3, HGNC:HGNC:18371, HumanCyc Gene:HS06590, ModBase:Q9BQT9, NCBI Gene:9746, OMIM:611324, RefSeq DNA:NT_009714, RefSeq Protein:NP_055533, RefSeq RNA:NM_014718, UCSC Genome Browser:NM_014718, UniProtKB:Q9BQT9 No chr12 7281681 7311541 7130371 7158945 +PA26616 1211 HGNC:2090 ENSG00000122705 clathrin light chain A CLTA clathrin, light chain A Lca Yes No Comparative Toxicogenomics Database:1211, Ensembl:ENSG00000122705, GenAtlas:CLTA, GeneCard:CLTA, HGNC:HGNC:2090, HumanCyc Gene:HS04593, NCBI Gene:1211, OMIM:118960, RefSeq DNA:NT_008413, RefSeq Protein:NP_001070145, RefSeq Protein:NP_001171689, RefSeq Protein:NP_001171690, RefSeq Protein:NP_001171691, RefSeq Protein:NP_001824, RefSeq Protein:NP_009027, RefSeq RNA:NM_001076677, RefSeq RNA:NM_001184760, RefSeq RNA:NM_001184761, RefSeq RNA:NM_001184762, RefSeq RNA:NM_001833, RefSeq RNA:NM_007096, UCSC Genome Browser:NM_001833, UniProtKB:B4DIN1, UniProtKB:P09496 No chr9 36190853 36212059 36190856 36212062 +PA26617 1212 HGNC:2091 ENSG00000175416 clathrin light chain B CLTB clathrin, light chain B Lcb Yes No Comparative Toxicogenomics Database:1212, Ensembl:ENSG00000175416, GenAtlas:CLTB, GeneCard:CLTB, HGNC:HGNC:2091, HumanCyc Gene:HS10928, ModBase:P09497, NCBI Gene:1212, OMIM:118970, RefSeq DNA:NT_023133, RefSeq Protein:NP_001825, RefSeq Protein:NP_009028, RefSeq RNA:NM_001834, RefSeq RNA:NM_007097, UCSC Genome Browser:NM_001834, UniProtKB:P09497 No chr5 175819456 175843570 176392455 176416614 +PA26618 1213 HGNC:2092 ENSG00000141367 clathrin heavy chain CLTC clathrin, heavy chain (Hc) CLTCL2, Hc Yes No Comparative Toxicogenomics Database:1213, Ensembl:ENSG00000141367, GenAtlas:CLTC, GeneCard:CLTC, HGNC:HGNC:2092, HumanCyc Gene:HS06817, ModBase:Q00610, NCBI Gene:1213, OMIM:118955, RefSeq DNA:NT_010783, RefSeq Protein:NP_004850, RefSeq RNA:NM_004859, UCSC Genome Browser:NM_004859, UniProtKB:Q00610 No chr17 57697050 57774317 59619689 59696956 +PA26619 8218 HGNC:2093 ENSG00000070371 clathrin heavy chain like 1 CLTCL1 clathrin, heavy chain-like 1 CHC22, CLH22, CLTCL, CLTD Yes No Comparative Toxicogenomics Database:8218, Ensembl:ENSG00000070371, GenAtlas:CLTCL1, GeneCard:CLTCL1, HGNC:HGNC:2093, HumanCyc Gene:HS00992, ModBase:P53675, NCBI Gene:8218, OMIM:601273, RefSeq DNA:NT_011519, RefSeq Protein:NP_001826, RefSeq Protein:NP_009029, RefSeq RNA:NM_001835, RefSeq RNA:NM_007098, UCSC Genome Browser:NM_001835, UniProtKB:P53675 No chr22 19166986 19279247 19179473 19291716 +PA134994199 57393 HGNC:29437 ENSG00000147003 collectrin, amino acid transport regulator CLTRN collectrin, transmembrane protein 27 NX17, TMEM27 Yes No Comparative Toxicogenomics Database:57393, Ensembl:ENSG00000147003, GeneCard:TMEM27, HGNC:HGNC:29437, HumanCyc Gene:HS14188, ModBase:Q9HBJ8, NCBI Gene:57393, OMIM:300631, RefSeq DNA:NG_015970, RefSeq DNA:NT_167197, RefSeq Protein:NP_065716, RefSeq RNA:NM_020665, UniProtKB:Q9HBJ8 No chrX 15645439 15683154 15627316 15675624 +PA26620 1191 HGNC:2095 ENSG00000120885 clusterin CLU apolipoprotein J, complement lysis inhibitor, sulfated glycoprotein 2, testosterone-repressed prostate message 2 APOJ, CLI, CLU1, CLU2, KUB1, SGP-2, SP-40, TRPM-2 Yes No Comparative Toxicogenomics Database:1191, Ensembl:ENSG00000120885, GenAtlas:CLU, GeneCard:CLU, HGNC:HGNC:2095, HumanCyc Gene:HS04444, ModBase:P10909, NCBI Gene:1191, OMIM:185430, RefSeq DNA:NT_167187, RefSeq Protein:NP_001164609, RefSeq Protein:NP_001822, RefSeq Protein:NP_976084, RefSeq RNA:NM_001171138, RefSeq RNA:NM_001831, RefSeq RNA:NM_203339, RefSeq RNA:NR_038335, UCSC Genome Browser:NM_001831, UniProtKB:P10909 No chr8 27454434 27472328 27596917 27616717 +PA128394600 23059 HGNC:19009 ENSG00000103351 clusterin associated protein 1 CLUAP1 """cilia and flagella associated protein 22"", ""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)""" CFAP22, FAP22, FLJ13297, IFT38, KIAA0643 Yes No Comparative Toxicogenomics Database:23059, Ensembl:ENSG00000103351, GeneCard:CLUAP1, HGNC:HGNC:19009, HumanCyc Gene:HS12522, ModBase:Q96AJ1, NCBI Gene:23059, RefSeq DNA:NT_010393, RefSeq Protein:NP_055856, RefSeq Protein:NP_079069, RefSeq RNA:NM_015041, RefSeq RNA:NM_024793, UCSC Genome Browser:NM_024793, UniProtKB:Q96AJ1 No chr16 3550945 3589048 3495562 3539048 +PA142671614 23277 HGNC:29094 ENSG00000132361 clustered mitochondria homolog CLUH clustered mitochondria (cluA/CLU1) homolog CLU1, KIAA0664 Yes No Ensembl:ENSG00000132361, GeneCard:KIAA0664, HGNC:HGNC:29094, HumanCyc Gene:HS05625, ModBase:O75153, NCBI Gene:23277, RefSeq DNA:NT_010718, RefSeq Protein:NP_056044, RefSeq RNA:NM_015229, UniProtKB:O75153 No chr17 2592680 2615053 2689386 2711633 +PA165450130 100132341 HGNC:28447 ENSG00000131797 clustered mitochondria (cluA/CLU1) homolog pseudogene 3 CLUHP3 MGC3020 Yes No Ensembl:ENSG00000131797, GeneCard:KIAA0664L3, HGNC:HGNC:28447, NCBI Gene:100132341, RefSeq DNA:NT_010393, RefSeq Protein:XP_001714911, RefSeq Protein:XP_001715028, RefSeq Protein:XP_001717958, RefSeq RNA:NR_024034, RefSeq RNA:XM_001714859, RefSeq RNA:XM_001714976, RefSeq RNA:XM_001717906 No chr16 31711934 31718758 31700613 31707437 +PA26621 27098 HGNC:2096 ENSG00000079101 clusterin like 1 CLUL1 clusterin-like 1 (retinal), retinal clusterin-like protein Yes No Ensembl:ENSG00000079101, GenAtlas:CLUL1, GeneCard:CLUL1, HGNC:HGNC:2096, HumanCyc Gene:HS01309, ModBase:Q15846, NCBI Gene:27098, RefSeq DNA:NT_010859, RefSeq Protein:NP_055225, RefSeq Protein:NP_954636, RefSeq RNA:NM_014410, RefSeq RNA:NM_199167, UCSC Genome Browser:NM_014410, UniProtKB:Q15846 No chr18 596998 650298 596998 650298 +PA165585423 157807 HGNC:23139 ENSG00000177182 clavesin 1 CLVS1 C6orf212L, CRALBPL, MGC34646, RLBP1L1 Yes No Ensembl:ENSG00000177182, GeneCard:CLVS1, HGNC:HGNC:23139, HumanCyc Gene:HS09134, ModBase:Q8IUQ0, NCBI Gene:157807, OMIM:611292, RefSeq DNA:NT_008183, RefSeq DNA:NT_008183.18, RefSeq Protein:NP_775790, RefSeq RNA:NM_173519, RefSeq RNA:NM_173519.2, UniProtKB:Q8IUQ0 No chr8 62200514 62414204 61057158 61501645 +PA165617885 134829 HGNC:23046 ENSG00000146352 clavesin 2 CLVS2 C6orf212, C6orf213, RLBP1L2, bA160A10.4 Yes No Ensembl:ENSG00000146352, GeneCard:CLVS2, HGNC:HGNC:23046, ModBase:Q5SYC1, NCBI Gene:134829, RefSeq DNA:NT_025741, RefSeq DNA:NT_025741.14, RefSeq Protein:NP_001010852, RefSeq RNA:NM_001010852, RefSeq RNA:NM_001010852.2, UniProtKB:Q5SYC1 No chr6 123317582 123385063 122993693 123081282 +PA166352427 79645 HGNC:25678 calaxin CLXN EFCAB1, outer dynein arm docking complex subunit 5 FLJ11767, ODAD5 Yes No HGNC:HGNC:25678, NCBI Gene:79645 No 0 0 0 0 +PA26622 171425 HGNC:18355 ENSG00000125246 citramalyl-CoA lyase CLYBL citrate lyase beta like CLB Yes No Comparative Toxicogenomics Database:171425, Ensembl:ENSG00000125246, GenAtlas:CLYBL, GeneCard:CLYBL, HGNC:HGNC:18355, HumanCyc Gene:HS04862, ModBase:Q8N0X4, NCBI Gene:171425, OMIM:609686, RefSeq DNA:NT_009952, RefSeq Protein:NP_996531, RefSeq RNA:NM_206808, UCSC Genome Browser:NM_138280, UniProtKB:Q8N0X4 No chr13 100258919 100549388 99606664 99909459 +PA26623 1215 HGNC:2097 ENSG00000092009 chymase 1 CMA1 chymase 1, mast cell Yes No Comparative Toxicogenomics Database:1215, Ensembl:ENSG00000092009, GenAtlas:CMA1, GeneCard:CMA1, HGNC:HGNC:2097, HumanCyc Gene:HS01750, ModBase:P23946, NCBI Gene:1215, OMIM:118938, RefSeq DNA:NT_026437, RefSeq Protein:NP_001827, RefSeq RNA:NM_001836, UCSC Genome Browser:NM_001836, UniProtKB:P23946 No chr14 24974712 24977471 24505355 24508265 +PA26624 8418 HGNC:2098 ENSG00000168405 cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene CMAHP Yes No Comparative Toxicogenomics Database:8418, Ensembl:ENSG00000168405, GenAtlas:CMAH, GeneCard:CMAHP, HGNC:HGNC:2098, NCBI Gene:8418, OMIM:603209, RefSeq DNA:NT_007592, RefSeq RNA:NR_002174, RefSeq RNA:NR_027626, UCSC Genome Browser:NM_003570 No chr6 25081295 25138620 25081067 25138392 +PA38519 55907 HGNC:18290 ENSG00000111726 cytidine monophosphate N-acetylneuraminic acid synthetase CMAS CMP-Neu5Ac synthetase, N-acylneuraminate cytidylyltransferase Yes No Comparative Toxicogenomics Database:55907, Ensembl:ENSG00000111726, GenAtlas:CMAS, GeneCard:CMAS, HGNC:HGNC:18290, HumanCyc Gene:HS03454, ModBase:Q8NFW8, NCBI Gene:55907, OMIM:603316, RefSeq DNA:NT_009714, RefSeq Protein:NP_061156, RefSeq RNA:NM_018686, UCSC Genome Browser:NM_018686, UniProtKB:Q8NFW8 No chr12 22199108 22218608 22046174 22065674 +PA162382521 134147 HGNC:25090 ENSG00000164237 carboxymethylenebutenolidase homolog CMBL carboxymethylenebutenolidase homolog (Pseudomonas) FLJ23617 Yes No Ensembl:ENSG00000164237, GeneCard:CMBL, HGNC:HGNC:25090, HumanCyc Gene:HS09043, ModBase:Q96DG6, NCBI Gene:134147, OMIM:613379, RefSeq DNA:NT_006576, RefSeq Protein:NP_620164, RefSeq RNA:NM_138809, UniProtKB:Q96DG6 No chr5 10277707 10308168 10277595 10308056 +PA162382538 152100 HGNC:28783 ENSG00000187118 C-X9-C motif containing 1 CMC1 C-x(9)-C motif containing 1, COX assembly mitochondrial protein 1 homolog (S. cerevisiae) C3orf68, MGC61571 Yes No Ensembl:ENSG00000187118, GeneCard:CMC1, HGNC:HGNC:28783, ModBase:Q7Z7K0, NCBI Gene:152100, RefSeq DNA:NT_022517, RefSeq Protein:NP_872329, RefSeq RNA:NM_182523, UniProtKB:Q7Z7K0 No chr3 28282838 28361264 28241588 28322874 +PA143485398 56942 HGNC:24447 ENSG00000103121 C-X9-C motif containing 2 CMC2 C-x(9)-C motif containing 2, COX assembly mitochondrial protein 2 homolog (S. cerevisiae) C16orf61, DC13, MGC45036 Yes No Ensembl:ENSG00000103121, GeneCard:C16orf61, HGNC:HGNC:24447, HumanCyc Gene:HS12512, NCBI Gene:56942, RefSeq DNA:NT_010498, RefSeq Protein:NP_064573, RefSeq RNA:NM_020188, UniProtKB:Q9NRP2 No chr16 81009699 81040713 80975800 81007046 +PA164723191 100272147 HGNC:35428 ENSG00000182712 C-X9-C motif containing 4 CMC4 """C-x(9)-C motif containing 4"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"", ""mature T-cell proliferation 1, isoform p8""" MTCP1, MTCP1NB, P8MTCP1, p8 Yes No Ensembl:ENSG00000182712, GeneCard:MTCP1NB, HGNC:HGNC:35428, NCBI Gene:100272147, RefSeq DNA:NG_005114, RefSeq Protein:NP_001018024, RefSeq RNA:NM_001018024, UniProtKB:P56277 No chrX 154289897 154299547 155061622 155071272 +PA166048959 80790 HGNC:24319 ENSG00000153815 c-Maf inducing protein CMIP Yes No Ensembl:ENSG00000153815, HGNC:HGNC:24319, NCBI Gene:80790 No chr16 81478775 81745367 81445170 81711762 +PA26640 1240 HGNC:2121 ENSG00000174600 chemerin chemokine-like receptor 1 CMKLR1 chemerin receptor, chemokine-like receptor 1, resolvin E1 receptor ChemR23, ERV1, RVER1 Yes No Comparative Toxicogenomics Database:1240, Ensembl:ENSG00000174600, GenAtlas:CMKLR1, GeneCard:CMKLR1, HGNC:HGNC:2121, HumanCyc Gene:HS10811, IUPHAR Receptor:79, ModBase:Q99788, NCBI Gene:1240, OMIM:602351, RefSeq DNA:NT_029419, RefSeq Protein:NP_001135815, RefSeq Protein:NP_001135816, RefSeq Protein:NP_001135817, RefSeq Protein:NP_004063, RefSeq RNA:NM_001142343, RefSeq RNA:NM_001142344, RefSeq RNA:NM_001142345, RefSeq RNA:NM_004072, UCSC Genome Browser:NM_004072, UniProtKB:Q99788 No chr12 108681821 108733094 108288044 108339348 +PA28846 2825 HGNC:4463 chemerin chemokine-like receptor 2 CMKLR2 G protein-coupled receptor 1 GPR1 Yes Yes Comparative Toxicogenomics Database:2825, GenAtlas:GPR1, GeneCard:GPR1, HGNC:HGNC:4463, IUPHAR Receptor:82, ModBase:P46091, NCBI Gene:2825, OMIM:600239, RefSeq DNA:NT_005403, RefSeq Protein:NP_001091669, RefSeq Protein:NP_005270, RefSeq RNA:NM_001098199, RefSeq RNA:NM_005279, UCSC Genome Browser:NM_005279, UniProtKB:P46091 No chr2 207040040 207082771 206175316 206218047 +PA162382539 51727 HGNC:18170 ENSG00000162368 cytidine/uridine monophosphate kinase 1 CMPK1 """Cytidine monophosphate kinase"", ""UMP-CMP kinase"", ""UMP/CMP kinase"", ""cytidine monophosphate (UMP-CMP) kinase 1, cytosolic""" CMPK, UMP-CMPK Yes Yes Ensembl:ENSG00000162368, GeneCard:CMPK1, HGNC:HGNC:18170, HumanCyc Gene:HS08663, ModBase:P30085, NCBI Gene:51727, OMIM:191710, RefSeq DNA:NT_032977, RefSeq Protein:NP_001129612, RefSeq Protein:NP_057392, RefSeq RNA:NM_001136140, RefSeq RNA:NM_016308, UniProtKB:B2R6S5, UniProtKB:P30085 No chr1 47799469 47844511 47333797 47378839 +PA162382556 129607 HGNC:27015 ENSG00000134326 cytidine/uridine monophosphate kinase 2 CMPK2 """UMP/CMP kinase"", ""cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial"", ""cytidylate kinase 2"", ""nucleoside-diphosphate kinase""" NDK, TYKi, UMP-CMPK2 Yes No Ensembl:ENSG00000134326, GeneCard:CMPK2, HGNC:HGNC:27015, NCBI Gene:129607, OMIM:611787, RefSeq DNA:NT_005334, RefSeq Protein:NP_997198, RefSeq RNA:NM_207315, UniProtKB:Q5EBM0 No chr2 6980684 7006766 6840417 6866635 +PA142672387 84319 HGNC:28666 ENSG00000184220 cms1 ribosomal small subunit homolog CMSS1 cms1 ribosomal small subunit homolog (yeast) C3orf26, MGC4308 Yes No Ensembl:ENSG00000184220, GeneCard:C3orf26, HGNC:HGNC:28666, ModBase:Q9BQ75, NCBI Gene:84319, RefSeq DNA:NT_005612, RefSeq Protein:NP_001161396, RefSeq Protein:NP_115735, RefSeq RNA:NM_001167924, RefSeq RNA:NM_032359, UniProtKB:B4DUM1, UniProtKB:Q9BQ75 No chr3 99536678 99897476 99817834 100178632 +PA38811 113540 HGNC:19172 ENSG00000089505 CKLF like MARVEL transmembrane domain containing 1 CMTM1 CKLF-like MARVEL transmembrane domain containing 1 CKLFH, CKLFH1a, CKLFSF1 Yes No Ensembl:ENSG00000089505, GenAtlas:CMTM1, GeneCard:CMTM1, HGNC:HGNC:19172, ModBase:Q96JC3, NCBI Gene:113540, OMIM:607884, RefSeq DNA:NT_010498, RefSeq Protein:NP_443725, RefSeq Protein:NP_851785, RefSeq Protein:NP_851786, RefSeq Protein:NP_851787, RefSeq Protein:NP_851788, RefSeq Protein:NP_851789, RefSeq Protein:NP_851800, RefSeq Protein:NP_851813, RefSeq RNA:NM_052999, RefSeq RNA:NM_181268, RefSeq RNA:NM_181269, RefSeq RNA:NM_181270, RefSeq RNA:NM_181271, RefSeq RNA:NM_181272, RefSeq RNA:NM_181283, RefSeq RNA:NM_181296, UCSC Genome Browser:NM_052999, UCSC Genome Browser:NM_181301, UniProtKB:Q6PEV5, UniProtKB:Q8IZ96 No chr16 66599849 66613038 66566391 66579135 +PA38812 146225 HGNC:19173 ENSG00000140932 CKLF like MARVEL transmembrane domain containing 2 CMTM2 CKLF-like MARVEL transmembrane domain containing 2 CKLFSF2, FLJ25732, MGC39436 Yes No Ensembl:ENSG00000140932, GenAtlas:CMTM2, GeneCard:CMTM2, HGNC:HGNC:19173, HumanCyc Gene:HS13852, ModBase:Q8TAZ6, NCBI Gene:146225, OMIM:607885, RefSeq DNA:NT_010498, RefSeq Protein:NP_001186246, RefSeq Protein:NP_653274, RefSeq RNA:NM_001199317, RefSeq RNA:NM_144673, UCSC Genome Browser:NM_144673, UniProtKB:Q8TAZ6 No chr16 66613351 66622178 66579448 66588275 +PA38813 123920 HGNC:19174 ENSG00000140931 CKLF like MARVEL transmembrane domain containing 3 CMTM3 CKLF-like MARVEL transmembrane domain containing 3 BNAS2, CKLFSF3, FLJ31762 Yes No Comparative Toxicogenomics Database:123920, Ensembl:ENSG00000140931, GenAtlas:CMTM3, GeneCard:CMTM3, HGNC:HGNC:19174, HumanCyc Gene:HS13851, ModBase:Q96MX0, NCBI Gene:123920, OMIM:607886, RefSeq DNA:NT_010498, RefSeq Protein:NP_001041716, RefSeq Protein:NP_653202, RefSeq Protein:NP_853531, RefSeq Protein:NP_853532, RefSeq RNA:NM_001048251, RefSeq RNA:NM_001363923, RefSeq RNA:NM_144601, RefSeq RNA:NM_181553, RefSeq RNA:NM_181554, RefSeq RNA:NR_037619, UCSC Genome Browser:NM_144601, UniProtKB:Q96MX0 No chr16 66637935 66647795 66604032 66613892 +PA38814 146223 HGNC:19175 ENSG00000183723 CKLF like MARVEL transmembrane domain containing 4 CMTM4 CKLF-like MARVEL transmembrane domain containing 4 CKLFSF4 Yes No Ensembl:ENSG00000183723, GenAtlas:CMTM4, GeneCard:CMTM4, HGNC:HGNC:19175, NCBI Gene:146223, OMIM:607887, RefSeq DNA:NT_010498, RefSeq Protein:NP_848933, RefSeq Protein:NP_852662, RefSeq RNA:NM_178818, RefSeq RNA:NM_181521, UCSC Genome Browser:NM_178818, UniProtKB:Q8IZR5 No chr16 66648653 66730610 66598178 66696707 +PA38815 116173 HGNC:19176 ENSG00000166091 CKLF like MARVEL transmembrane domain containing 5 CMTM5 CKLF-like MARVEL transmembrane domain containing 5 CKLFSF5, FLJ37521 Yes No Ensembl:ENSG00000166091, GenAtlas:CMTM5, GeneCard:CMTM5, HGNC:HGNC:19176, HumanCyc Gene:HS15402, NCBI Gene:116173, OMIM:607888, RefSeq DNA:NT_026437, RefSeq Protein:NP_001032365, RefSeq Protein:NP_612469, RefSeq RNA:NM_001037288, RefSeq RNA:NM_138460, UCSC Genome Browser:NM_138460, UniProtKB:Q5PY48, UniProtKB:Q96DZ9 No chr14 23846017 23848981 23376439 23379772 +PA38816 54918 HGNC:19177 ENSG00000091317 CKLF like MARVEL transmembrane domain containing 6 CMTM6 CKLF-like MARVEL transmembrane domain containing 6 CKLFSF6, FLJ20396 Yes No Comparative Toxicogenomics Database:54918, Ensembl:ENSG00000091317, GenAtlas:CMTM6, GeneCard:CMTM6, HGNC:HGNC:19177, HumanCyc Gene:HS12336, NCBI Gene:54918, OMIM:607889, RefSeq DNA:NT_022517, RefSeq Protein:NP_060271, RefSeq RNA:NM_017801, UCSC Genome Browser:NM_017801, UniProtKB:Q9NX76 No chr3 32522804 32544403 32481312 32502911 +PA38817 112616 HGNC:19178 ENSG00000153551 CKLF like MARVEL transmembrane domain containing 7 CMTM7 CKLF-like MARVEL transmembrane domain containing 7 CKLFSF7, FLJ30992 Yes No Comparative Toxicogenomics Database:112616, Ensembl:ENSG00000153551, GenAtlas:CMTM7, GeneCard:CMTM7, HGNC:HGNC:19178, HumanCyc Gene:HS14476, ModBase:Q96FZ5, NCBI Gene:112616, OMIM:607890, RefSeq DNA:NT_022517, RefSeq Protein:NP_612419, RefSeq Protein:NP_852137, RefSeq RNA:NM_138410, RefSeq RNA:NM_181472, UCSC Genome Browser:NM_138410, UniProtKB:Q5VLK1, UniProtKB:Q96FZ5 No chr3 32433163 32496333 32391671 32455528 +PA38818 152189 HGNC:19179 ENSG00000170293 CKLF like MARVEL transmembrane domain containing 8 CMTM8 CKLF-like MARVEL transmembrane domain containing 8 CKLFSF8 Yes Yes Comparative Toxicogenomics Database:152189, Ensembl:ENSG00000170293, GenAtlas:CMTM8, GeneCard:CMTM8, HGNC:HGNC:19179, NCBI Gene:152189, OMIM:607891, RefSeq DNA:NT_022517, RefSeq Protein:NP_849199, RefSeq RNA:NM_178868, UCSC Genome Browser:NM_178868, UniProtKB:Q8IZV2 No chr3 32280171 32411817 32238679 32370325 +PA162389052 23070 HGNC:21077 ENSG00000137200 cap methyltransferase 1 CMTR1 FtsJ methyltransferase domain containing 2 FTSJD2, ISG95, KIAA0082, MTr1 Yes No Ensembl:ENSG00000137200, GeneCard:FTSJD2, HGNC:HGNC:21077, HumanCyc Gene:HS06290, ModBase:Q8N1G2, NCBI Gene:23070, RefSeq DNA:NT_007592, RefSeq Protein:NP_055865, RefSeq RNA:NM_015050, UniProtKB:Q8N1G2 No chr6 37400907 37450637 37433131 37482844 +PA162389041 55783 HGNC:25635 ENSG00000180917 cap methyltransferase 2 CMTR2 FtsJ methyltransferase domain containing 1, adrift homolog (Drosophila) AFT, FLJ11171, FTSJD1, MTr2 Yes No Ensembl:ENSG00000180917, GeneCard:FTSJD1, HGNC:HGNC:25635, HumanCyc Gene:HS17594, ModBase:Q8IYT2, NCBI Gene:55783, RefSeq DNA:NT_010498, RefSeq Protein:NP_001093112, RefSeq Protein:NP_060818, RefSeq RNA:NM_001099642, RefSeq RNA:NM_018348, UniProtKB:Q8IYT2 No chr16 71315292 71323509 71282300 71290178 +PA37868 202333 HGNC:14305 ENSG00000164309 cardiomyopathy associated 5 CMYA5 genethonin-3, tripartite motif-containing 76 C5orf10, DKFZp451G223, SPRYD2, TRIM76, myospryn Yes No Ensembl:ENSG00000164309, GenAtlas:CMYA5, GeneCard:CMYA5, HGNC:HGNC:14305, HumanCyc Gene:HS15183, ModBase:Q6P5U3, NCBI Gene:202333, OMIM:612193, RefSeq DNA:NT_006713, RefSeq Protein:NP_705838, RefSeq RNA:NM_153610, UCSC Genome Browser:NM_153610, UniProtKB:Q8N3K9 No chr5 78985659 79096049 79689339 79800226 +PA142672090 168975 HGNC:26663 ENSG00000176571 cyclic nucleotide binding domain containing 1 CNBD1 FLJ35802 Yes No Ensembl:ENSG00000176571, GeneCard:CNBD1, HGNC:HGNC:26663, ModBase:Q8NA66, NCBI Gene:168975, RefSeq DNA:NT_008046, RefSeq Protein:NP_775809, RefSeq RNA:NM_173538, UniProtKB:Q8NA66 No chr8 87878676 88394955 86866442 87428652 +PA25694 140894 HGNC:16145 ENSG00000149646 cyclic nucleotide binding domain containing 2 CNBD2 C20orf152, CNMPD1, dJ954P9.1 Yes No Ensembl:ENSG00000149646, GenAtlas:C20orf152, GeneCard:C20orf152, HGNC:HGNC:16145, HumanCyc Gene:HS14301, ModBase:Q96M20, NCBI Gene:140894, RefSeq DNA:NT_011362, RefSeq Protein:NP_001194005, RefSeq Protein:NP_543024, RefSeq RNA:NM_001207076, RefSeq RNA:NM_080834, UCSC Genome Browser:NM_080834, UniProtKB:Q96M20 No chr20 34556529 34618622 35954561 36030700 +PA37737 7555 HGNC:13164 ENSG00000169714 CCHC-type zinc finger nucleic acid binding protein CNBP CCHC-type zinc finger, nucleic acid binding protein CNBP1, DM2, RNF163, ZCCHC22, ZNF9 Yes No Comparative Toxicogenomics Database:7555, Ensembl:ENSG00000169714, GenAtlas:CNBP, GeneCard:CNBP, HGNC:HGNC:13164, HumanCyc Gene:HS09993, ModBase:P62633, NCBI Gene:7555, OMIM:116955, OMIM:602668, RefSeq DNA:NG_011902, RefSeq DNA:NT_005612, RefSeq Protein:NP_001120664, RefSeq Protein:NP_001120665, RefSeq Protein:NP_001120666, RefSeq Protein:NP_001120667, RefSeq Protein:NP_001120668, RefSeq Protein:NP_003409, RefSeq RNA:NM_001127192, RefSeq RNA:NM_001127193, RefSeq RNA:NM_001127194, RefSeq RNA:NM_001127195, RefSeq RNA:NM_001127196, RefSeq RNA:NM_003418, UCSC Genome Browser:NM_003418, UniProtKB:A8K7V4, UniProtKB:P62633, UniProtKB:Q4JGY0, UniProtKB:Q4JGY1, UniProtKB:Q5U0E9 No chr3 128886658 128902810 129167815 129183967 +PA134907547 84735 HGNC:20675 ENSG00000150656 carnosine dipeptidase 1 CNDP1 beta-Ala-His dipeptidase, carnosinase 1, carnosine dipeptidase 1 (metallopeptidase M20 family), glutamate carboxypeptidase-like protein 2 CN1, CPGL2, HsT2308, MGC10825 Yes No Ensembl:ENSG00000150656, GeneCard:CNDP1, HGNC:HGNC:20675, HumanCyc Gene:HS07681, ModBase:Q96KN2, NCBI Gene:84735, OMIM:609064, RefSeq DNA:NT_025028, RefSeq Protein:NP_116038, RefSeq RNA:NM_032649, UniProtKB:Q96KN2 No chr18 72201692 72252261 74534457 74585025 +PA134975242 55748 HGNC:24437 ENSG00000133313 carnosine dipeptidase 2 CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family), carnosinase-2, carnosine dipeptidase II, cytosolic nonspecific dipeptidase, cytosolic nonspecific dipeptidase (EC 3.4.13.18) CN2, CPGL, FLJ10830, HsT2298, PEPA Yes No Comparative Toxicogenomics Database:55748, Ensembl:ENSG00000133313, GeneCard:CNDP2, HGNC:HGNC:24437, HumanCyc Gene:HS05755, ModBase:Q96KP4, NCBI Gene:55748, OMIM:169800, RefSeq DNA:NT_025028, RefSeq Protein:NP_001161971, RefSeq Protein:NP_060705, RefSeq RNA:NM_001168499, RefSeq RNA:NM_018235, UniProtKB:Q96KP4 No chr18 72163500 72190689 74496265 74523454 +PA162406208 255919 HGNC:26759 ENSG00000205423 CTD nuclear envelope phosphatase 1 regulatory subunit 1 CNEP1R1 nuclear envelope phosphatase 1-regulatory subunit 1 C16orf69, FLJ38101, NEP1-R1, TMEM188 Yes No Ensembl:ENSG00000205423, GeneCard:TMEM188, HGNC:HGNC:26759, NCBI Gene:255919, RefSeq DNA:NT_010498, RefSeq Protein:NP_694993, RefSeq RNA:NM_153261, UniProtKB:Q8N9A8 No chr16 50059121 50070999 50025206 50037088 +PA134938429 84518 HGNC:30183 ENSG00000105427 cornifelin CNFN PLAC8L2 Yes No Ensembl:ENSG00000105427, GeneCard:CNFN, HGNC:HGNC:30183, HumanCyc Gene:HS12589, NCBI Gene:84518, OMIM:611764, RefSeq DNA:NT_011109, RefSeq Protein:NP_115877, RefSeq RNA:NM_032488, UniProtKB:Q9BYD5 No chr19 42891171 42894444 42387019 42390317 +PA26658 1259 HGNC:2148 ENSG00000198515 cyclic nucleotide gated channel subunit alpha 1 CNGA1 cGMP-gated cation channel alpha-1, cyclic nucleotide gated channel alpha 1 CNCG, CNCG1, CNG1, RCNC1, RCNCa, RP49 Yes No Comparative Toxicogenomics Database:1259, Ensembl:ENSG00000198515, GenAtlas:CNGA1, GeneCard:CNGA1, HGNC:HGNC:2148, IUPHAR Receptor:394, ModBase:P29973, NCBI Gene:1259, OMIM:123825, RefSeq DNA:NG_009193, RefSeq DNA:NT_006238, RefSeq Protein:NP_000078, RefSeq Protein:NP_001136036, RefSeq RNA:NM_000087, RefSeq RNA:NM_001142564, UCSC Genome Browser:NM_000087, UniProtKB:P29973, UniProtKB:Q4W5E3 No chr4 47937994 48018646 47935015 48016718 +PA26659 1260 HGNC:2149 ENSG00000183862 cyclic nucleotide gated channel subunit alpha 2 CNGA2 cyclic nucleotide gated channel alpha 2 CNCA, CNCA1, CNG2, FLJ46312, OCNC1, OCNCALPHA, OCNCa, OCNCalpha Yes No Ensembl:ENSG00000183862, GenAtlas:CNGA2, GeneCard:CNGA2, HGNC:HGNC:2149, IUPHAR Receptor:395, ModBase:Q16280, NCBI Gene:1260, OMIM:300338, RefSeq DNA:NG_016352, RefSeq DNA:NT_167198, RefSeq Protein:NP_005131, RefSeq RNA:NM_005140, UniProtKB:B3KXY3, UniProtKB:Q16280 No chrX 150903218 150914036 151734746 151745564 +PA26660 1261 HGNC:2150 ENSG00000144191 cyclic nucleotide gated channel subunit alpha 3 CNGA3 cyclic nucleotide gated channel alpha 3 ACHM2, CCNC1, CCNCa, CNCG3, CNG3 Yes No Comparative Toxicogenomics Database:1261, Ensembl:ENSG00000144191, GenAtlas:CNGA3, GeneCard:CNGA3, HGNC:HGNC:2150, HumanCyc Gene:HS07154, IUPHAR Receptor:396, ModBase:Q16281, NCBI Gene:1261, OMIM:216900, OMIM:600053, RefSeq DNA:NG_009097, RefSeq DNA:NT_022171, RefSeq Protein:NP_001073347, RefSeq Protein:NP_001289, RefSeq RNA:NM_001079878, RefSeq RNA:NM_001298, UCSC Genome Browser:NM_001298, UniProtKB:Q16281, UniProtKB:Q4VAP7 No chr2 98962618 99015064 98346155 98399154 +PA26661 1262 HGNC:2152 ENSG00000132259 cyclic nucleotide gated channel subunit alpha 4 CNGA4 cyclic nucleotide gated channel alpha 4 CNCA2, CNG5, CNGB2, OCNC2, OCNCb Yes No Ensembl:ENSG00000132259, GenAtlas:CNGA4, GeneCard:CNGA4, HGNC:HGNC:2152, IUPHAR Receptor:397, NCBI Gene:1262, OMIM:609472, RefSeq DNA:NT_009237, RefSeq Protein:NP_001032406, RefSeq RNA:NM_001037329 No chr11 6256724 6267066 6234774 6245924 +PA26662 1258 HGNC:2151 ENSG00000070729 cyclic nucleotide gated channel subunit beta 1 CNGB1 cyclic nucleotide gated channel beta 1, cyclic nucleotide-gated cation channel beta-1, glutamic acid-rich protein CNCG2, CNCG3L, CNGB1B, GAR1, GARP, RCNC2, RCNCb, RP45 Yes No Comparative Toxicogenomics Database:1258, Ensembl:ENSG00000070729, GenAtlas:CNGB1, GeneCard:CNGB1, HGNC:HGNC:2151, HumanCyc Gene:HS01004, IUPHAR Receptor:398, ModBase:Q14028, NCBI Gene:1258, OMIM:268000, OMIM:600724, RefSeq DNA:NG_016351, RefSeq DNA:NT_010498, RefSeq Protein:NP_001129111, RefSeq Protein:NP_001288, RefSeq RNA:NM_001135639, RefSeq RNA:NM_001297, UCSC Genome Browser:NM_001297, UniProtKB:Q14028 No chr16 57916244 58005020 57882340 57971116 +PA26663 54714 HGNC:2153 ENSG00000170289 cyclic nucleotide gated channel subunit beta 3 CNGB3 cyclic nucleotide gated channel beta 3 ACHM1, ACHM3, RMCH Yes No Comparative Toxicogenomics Database:54714, Ensembl:ENSG00000170289, GenAtlas:CNGB3, GeneCard:CNGB3, HGNC:HGNC:2153, HumanCyc Gene:HS10096, IUPHAR Receptor:399, ModBase:Q9NQW8, NCBI Gene:54714, OMIM:248200, OMIM:262300, OMIM:605080, RefSeq DNA:NG_016980, RefSeq DNA:NT_008046, RefSeq Protein:NP_061971, RefSeq RNA:NM_019098, UCSC Genome Browser:NM_019098, UniProtKB:Q9NQW8 No chr8 87586163 87755903 86573608 86743675 +PA134864821 10175 HGNC:19431 ENSG00000100528 cornichon family member 1 CNIH1 cornichon family AMPA receptor auxiliary protein 1, cornichon homolog (Drosophila) CNIH, CNIH1, CNIL, TGAM77 Yes No Comparative Toxicogenomics Database:10175, Ensembl:ENSG00000100528, GeneCard:CNIH, HGNC:HGNC:19431, HumanCyc Gene:HS02105, NCBI Gene:10175, OMIM:611287, RefSeq DNA:NT_026437, RefSeq Protein:NP_005767, RefSeq RNA:NM_005776, UniProtKB:B2R4P1, UniProtKB:O95406 No chr14 54890279 54908322 54426929 54441430 +PA134887358 254263 HGNC:28744 ENSG00000174871 cornichon family AMPA receptor auxiliary protein 2 CNIH2 cornichon homolog 2 (Drosophila) CNIH-2, Cnil, MGC50896 Yes No Ensembl:ENSG00000174871, GeneCard:CNIH2, HGNC:HGNC:28744, NCBI Gene:254263, OMIM:611288, RefSeq DNA:NT_167190, RefSeq Protein:NP_872359, RefSeq RNA:NM_182553, UniProtKB:Q6PI25 No chr11 66045672 66051685 66278201 66284214 +PA134929862 149111 HGNC:26802 ENSG00000143786 cornichon family AMPA receptor auxiliary protein 3 CNIH3 cornichon homolog 3 (Drosophila) CNIH-3, FLJ38993 Yes Yes Comparative Toxicogenomics Database:149111, Ensembl:ENSG00000143786, GeneCard:CNIH3, HGNC:HGNC:26802, HumanCyc Gene:HS07106, NCBI Gene:149111, RefSeq DNA:NT_167186, RefSeq Protein:NP_689708, RefSeq RNA:NM_152495, UniProtKB:Q8TBE1 No chr1 224734563 224928269 224434640 224740549 +PA142672091 29097 HGNC:25013 ENSG00000143771 cornichon family member 4 CNIH4 cornichon family AMPA receptor auxiliary protein 4, cornichon homolog 4 (Drosophila) HSPC163 Yes No Comparative Toxicogenomics Database:29097, Ensembl:ENSG00000143771, GeneCard:CNIH4, HGNC:HGNC:25013, HumanCyc Gene:HS07102, NCBI Gene:29097, RefSeq DNA:NT_167186, RefSeq Protein:NP_054903, RefSeq RNA:NM_014184, UniProtKB:Q9P003 No chr1 224544513 224567154 224356811 224379452 +PA134901167 10256 HGNC:19700 ENSG00000142675 connector enhancer of kinase suppressor of Ras 1 CNKSR1 CNK, CNK1, KSR Yes No Ensembl:ENSG00000142675, GeneCard:CNKSR1, HGNC:HGNC:19700, HumanCyc Gene:HS06951, ModBase:Q969H4, NCBI Gene:10256, OMIM:603272, RefSeq DNA:NT_004610, RefSeq Protein:NP_006305, RefSeq RNA:NM_006314, RefSeq RNA:NR_023345, UniProtKB:Q53GM7, UniProtKB:Q969H4 No chr1 26503981 26516375 26177490 26189884 +PA134867759 22866 HGNC:19701 ENSG00000149970 connector enhancer of kinase suppressor of Ras 2 CNKSR2 CNK2, KIAA0902, KSR2 Yes No Ensembl:ENSG00000149970, GeneCard:CNKSR2, HGNC:HGNC:19701, HumanCyc Gene:HS07653, ModBase:Q8WXI2, NCBI Gene:22866, OMIM:300724, RefSeq DNA:NG_016266, RefSeq DNA:NT_167197, RefSeq Protein:NP_001162118, RefSeq Protein:NP_001162119, RefSeq Protein:NP_001162120, RefSeq Protein:NP_055742, RefSeq RNA:NM_001168647, RefSeq RNA:NM_001168648, RefSeq RNA:NM_001168649, RefSeq RNA:NM_014927, UniProtKB:B3KPN2, UniProtKB:B4DGR4, UniProtKB:Q8WXI2 No chrX 21392532 21672813 21374335 21654695 +PA134880153 154043 HGNC:23034 ENSG00000153721 CNKSR family member 3 CNKSR3 FLJ31349, MAGI1 Yes Yes Comparative Toxicogenomics Database:154043, Ensembl:ENSG00000153721, GeneCard:CNKSR3, HGNC:HGNC:23034, HumanCyc Gene:HS07919, ModBase:Q6P9H4, NCBI Gene:154043, RefSeq DNA:NT_025741, RefSeq Protein:NP_775786, RefSeq RNA:NM_173515, UniProtKB:Q6P9H4 No chr6 154726433 154831753 154405299 154510619 +PA134897668 11061 HGNC:17005 ENSG00000136110 chondromodulin CNMD BRICHOS domain containing 3, leukocyte cell derived chemotaxin 1 BRICD3, CHM-I, CHM1, LECT1, MYETS1, chondromodulin Yes No Ensembl:ENSG00000136110, GeneCard:LECT1, HGNC:HGNC:17005, HumanCyc Gene:HS06113, NCBI Gene:11061, OMIM:605147, RefSeq DNA:NT_024524, RefSeq Protein:NP_001011705, RefSeq Protein:NP_008946, RefSeq RNA:NM_001011705, RefSeq RNA:NM_007015, UniProtKB:O75829 No chr13 53277399 53313947 52703264 52739812 +PA26665 1264 HGNC:2155 ENSG00000130176 calponin 1 CNN1 calponin 1, basic, smooth muscle SMCC, Sm-Calp Yes No Comparative Toxicogenomics Database:1264, Ensembl:ENSG00000130176, GenAtlas:CNN1, GeneCard:CNN1, HGNC:HGNC:2155, HumanCyc Gene:HS05347, ModBase:P51911, NCBI Gene:1264, OMIM:600806, RefSeq DNA:NT_011295, RefSeq Protein:NP_001290, RefSeq RNA:NM_001299, UCSC Genome Browser:NM_001299, UniProtKB:P51911 No chr19 11649579 11661139 11538717 11550323 +PA26666 1265 HGNC:2156 ENSG00000064666 calponin 2 CNN2 Yes No Comparative Toxicogenomics Database:1265, Ensembl:ENSG00000064666, GenAtlas:CNN2, GeneCard:CNN2, HGNC:HGNC:2156, HumanCyc Gene:HS00813, ModBase:Q99439, NCBI Gene:1265, OMIM:602373, RefSeq DNA:NT_011255, RefSeq Protein:NP_004359, RefSeq Protein:NP_958434, RefSeq RNA:NM_004368, RefSeq RNA:NM_201277, UCSC Genome Browser:NM_004368, UniProtKB:A6NFI4, UniProtKB:Q99439 No chr19 1026274 1039064 1026275 1039068 +PA26667 1266 HGNC:2157 ENSG00000117519 calponin 3 CNN3 calponin 3, acidic Yes No Comparative Toxicogenomics Database:1266, Ensembl:ENSG00000117519, GenAtlas:CNN3, GeneCard:CNN3, HGNC:HGNC:2157, HumanCyc Gene:HS04144, ModBase:Q15417, NCBI Gene:1266, OMIM:602374, RefSeq DNA:NT_032977, RefSeq Protein:NP_001830, RefSeq RNA:NM_001839, UCSC Genome Browser:NM_001839, UniProtKB:Q15417, UniProtKB:Q6FHA7 No chr1 95362507 95392735 94896949 94927223 +PA26668 26507 HGNC:102 ENSG00000119946 cyclin and CBS domain divalent metal cation transport mediator 1 CNNM1 cyclin M1 ACDP1 Yes No Comparative Toxicogenomics Database:26507, Ensembl:ENSG00000119946, GenAtlas:CNNM1, GeneCard:CNNM1, HGNC:HGNC:102, HumanCyc Gene:HS12968, NCBI Gene:26507, OMIM:607802, RefSeq DNA:NT_030059, RefSeq Protein:NP_065081, RefSeq RNA:NM_020348, UCSC Genome Browser:NM_020348, UniProtKB:A6NNA7, UniProtKB:Q9NRU3 No chr10 101088856 101154087 99329099 99394330 +PA26669 54805 HGNC:103 ENSG00000148842 cyclin and CBS domain divalent metal cation transport mediator 2 CNNM2 cyclin M2 ACDP2 Yes Yes Ensembl:ENSG00000148842, GenAtlas:CNNM2, GeneCard:CNNM2, HGNC:HGNC:103, HumanCyc Gene:HS14258, ModBase:Q9H8M5, NCBI Gene:54805, OMIM:607803, RefSeq DNA:NT_030059, RefSeq Protein:NP_060119, RefSeq Protein:NP_951058, RefSeq Protein:NP_951059, RefSeq RNA:NM_017649, RefSeq RNA:NM_199076, RefSeq RNA:NM_199077, UCSC Genome Browser:NM_017649, UniProtKB:Q9H8M5 No chr10 104678075 104838344 102918293 103087169 +PA26670 26505 HGNC:104 ENSG00000168763 cyclin and CBS domain divalent metal cation transport mediator 3 CNNM3 cyclin M3 ACDP3 Yes No Ensembl:ENSG00000168763, GenAtlas:CNNM3, GeneCard:CNNM3, HGNC:HGNC:104, HumanCyc Gene:HS15706, ModBase:Q8NE01, NCBI Gene:26505, OMIM:607804, RefSeq DNA:NT_022171, RefSeq Protein:NP_060093, RefSeq Protein:NP_951060, RefSeq RNA:NM_017623, RefSeq RNA:NM_199078, UCSC Genome Browser:NM_017623, UniProtKB:Q8NE01 No chr2 97480950 97501121 96815894 96837109 +PA26671 26504 HGNC:105 ENSG00000158158 cyclin and CBS domain divalent metal cation transport mediator 4 CNNM4 cyclin M4 ACDP4, KIAA1592 Yes No Comparative Toxicogenomics Database:26504, Ensembl:ENSG00000158158, GenAtlas:CNNM4, GeneCard:CNNM4, HGNC:HGNC:105, HumanCyc Gene:HS14701, ModBase:Q6P4Q7, NCBI Gene:26504, OMIM:217080, OMIM:607805, RefSeq DNA:NG_016608, RefSeq DNA:NT_022171, RefSeq Protein:NP_064569, RefSeq RNA:NM_020184, UCSC Genome Browser:NM_020184, UniProtKB:Q6P4Q7 No chr2 97426639 97477628 96760902 96811891 +PA26672 23019 HGNC:7877 ENSG00000125107 CCR4-NOT transcription complex subunit 1 CNOT1 CCR4-NOT transcription complex, subunit 1 AD-005, CDC39, KIAA1007, NOT1, NOT1H Yes Yes Comparative Toxicogenomics Database:23019, Ensembl:ENSG00000125107, GenAtlas:CNOT1, GeneCard:CNOT1, HGNC:HGNC:7877, HumanCyc Gene:HS13154, ModBase:Q9Y2L0, NCBI Gene:23019, OMIM:604917, RefSeq DNA:NT_010498, RefSeq Protein:NP_057368, RefSeq Protein:NP_996882, RefSeq RNA:NM_016284, RefSeq RNA:NM_206999, UniProtKB:A5YKK6 No chr16 58553850 58663790 58519946 58629886 +PA134862503 25904 HGNC:23817 ENSG00000182973 CCR4-NOT transcription complex subunit 10 CNOT10 CCR4-NOT transcription complex, subunit 10 FLJ12890, FLJ13165 Yes No Comparative Toxicogenomics Database:25904, Ensembl:ENSG00000182973, GeneCard:CNOT10, HGNC:HGNC:23817, ModBase:Q9H9A5, NCBI Gene:25904, RefSeq DNA:NT_022517, RefSeq Protein:NP_056257, RefSeq RNA:NM_015442, UniProtKB:Q9H9A5 No chr3 32726637 32815367 32685145 32773875 +PA134899354 55571 HGNC:25217 ENSG00000158435 CCR4-NOT transcription complex subunit 11 CNOT11 CCR4-NOT transcription complex, subunit 11 C2orf29, C40 Yes No Ensembl:ENSG00000158435, GeneCard:C2orf29, HGNC:HGNC:25217, HumanCyc Gene:HS08290, NCBI Gene:55571, RefSeq DNA:NT_022171, RefSeq Protein:NP_060016, RefSeq RNA:NM_017546, UniProtKB:Q9UKZ1 No chr2 101869345 101886778 101252883 101270316 +PA26673 4848 HGNC:7878 ENSG00000111596 CCR4-NOT transcription complex subunit 2 CNOT2 """CC chemokine receptor 4-negative regulator of transcription 2"", ""CCR4-NOT transcription complex, subunit 2""" CDC36, NOT2, NOT2H Yes No Comparative Toxicogenomics Database:4848, Ensembl:ENSG00000111596, GenAtlas:CNOT2, GeneCard:CNOT2, HGNC:HGNC:7878, HumanCyc Gene:HS03427, ModBase:Q9NZN8, NCBI Gene:4848, OMIM:604909, RefSeq DNA:NT_029419, RefSeq Protein:NP_001186231, RefSeq Protein:NP_001186232, RefSeq Protein:NP_055330, RefSeq RNA:NM_001199302, RefSeq RNA:NM_001199303, RefSeq RNA:NM_014515, RefSeq RNA:NR_037615, UCSC Genome Browser:NM_014515, UniProtKB:Q9NZN8 No chr12 70636774 70748773 70242993 70354993 +PA26674 4849 HGNC:7879 ENSG00000088038 CCR4-NOT transcription complex subunit 3 CNOT3 """CCR4-NOT transcription complex, subunit 3"", ""NOT3 (negative regulator of transcription 3, yeast) homolog""" KIAA0691, LENG2, NOT3, NOT3H Yes Yes Comparative Toxicogenomics Database:4849, Ensembl:ENSG00000088038, GenAtlas:CNOT3, GeneCard:CNOT3, HGNC:HGNC:7879, HumanCyc Gene:HS12302, ModBase:O75175, NCBI Gene:4849, OMIM:604910, RefSeq DNA:NT_011109, RefSeq Protein:NP_055331, RefSeq RNA:NM_014516, UCSC Genome Browser:NM_014516, UniProtKB:O75175 No chr19 54641436 54659446 54137689 54155708 +PA26675 4850 HGNC:7880 ENSG00000080802 CCR4-NOT transcription complex subunit 4 CNOT4 CCR4-NOT transcription complex, subunit 4 CLONE243, NOT4, NOT4H Yes Yes Comparative Toxicogenomics Database:4850, Ensembl:ENSG00000080802, GenAtlas:CNOT4, GeneCard:CNOT4, HGNC:HGNC:7880, HumanCyc Gene:HS01367, ModBase:O95628, NCBI Gene:4850, OMIM:604911, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001008226, RefSeq Protein:NP_001177776, RefSeq Protein:NP_001177777, RefSeq Protein:NP_001177778, RefSeq Protein:NP_001177779, RefSeq Protein:NP_037448, RefSeq RNA:NM_001008225, RefSeq RNA:NM_001190847, RefSeq RNA:NM_001190848, RefSeq RNA:NM_001190849, RefSeq RNA:NM_001190850, RefSeq RNA:NM_013316, UCSC Genome Browser:NM_013316, UniProtKB:O95628 No chr7 135046547 135194875 135361795 135510127 +PA26677 57472 HGNC:14099 ENSG00000113300 CCR4-NOT transcription complex subunit 6 CNOT6 CCR4-NOT transcription complex, subunit 6 CCR4, Ccr4a, KIAA1194 Yes No Ensembl:ENSG00000113300, GenAtlas:CNOT6, GeneCard:CNOT6, HGNC:HGNC:14099, ModBase:Q9ULM6, NCBI Gene:57472, OMIM:608951, RefSeq DNA:NT_023133, RefSeq Protein:NP_056270, RefSeq RNA:NM_015455, UniProtKB:Q9ULM6 No chr5 179921412 180005358 180494373 180578405 +PA38480 246175 HGNC:18042 ENSG00000138767 CCR4-NOT transcription complex subunit 6 like CNOT6L CCR4-NOT transcription complex, subunit 6-like Ccr4b, DKFZp434K098 Yes No Ensembl:ENSG00000138767, GenAtlas:CNOT6L, GeneCard:CNOT6L, HGNC:HGNC:18042, HumanCyc Gene:HS13744, ModBase:Q96LI5, NCBI Gene:246175, RefSeq DNA:NT_016354, RefSeq Protein:NP_653172, RefSeq RNA:NM_144571, UCSC Genome Browser:NM_144571, UniProtKB:Q96LI5 No chr4 78634541 78740764 77713387 77820238 +PA143485435 729530 HGNC:32355 ENSG00000230183 CCR4-NOT transcription complex, subunit 6-like pseudogene 1 CNOT6LP1 Yes No Ensembl:ENSG00000230183, GeneCard:CNOT6LP1, HGNC:HGNC:32355, NCBI Gene:729530, RefSeq DNA:NG_009481, RefSeq DNA:NT_010194 No chr15 56295503 56299377 56003305 56007179 +PA26678 29883 HGNC:14101 ENSG00000198791 CCR4-NOT transcription complex subunit 7 CNOT7 """BTG1 binding factor 1"", ""CCR4-NOT transcription complex, subunit 7""" CAF1 Yes No Ensembl:ENSG00000198791, GenAtlas:CNOT7, GeneCard:CNOT7, HGNC:HGNC:14101, ModBase:Q9UIV1, NCBI Gene:29883, OMIM:604913, RefSeq DNA:NT_167187, RefSeq Protein:NP_037486, RefSeq Protein:NP_473367, RefSeq RNA:NM_013354, RefSeq RNA:NM_054026, UCSC Genome Browser:NM_013354, UniProtKB:B3KN35, UniProtKB:Q9UIV1 No chr8 17086737 17104387 17226030 17246909 +PA26679 9337 HGNC:9207 ENSG00000155508 CCR4-NOT transcription complex subunit 8 CNOT8 """CCR4-NOT transcription complex, subunit 8"", ""PGK promoter directed over production""" CAF1, CALIF, POP2, hCAF1 Yes No Ensembl:ENSG00000155508, GenAtlas:CNOT8, GeneCard:CNOT8, HGNC:HGNC:9207, HumanCyc Gene:HS08056, ModBase:Q9UFF9, NCBI Gene:9337, OMIM:603731, RefSeq DNA:NT_029289, RefSeq Protein:NP_004770, RefSeq RNA:NM_004779, UCSC Genome Browser:NM_004779, UniProtKB:Q9UFF9 No chr5 154237755 154256352 154857952 154876792 +PA34859 9125 HGNC:10445 ENSG00000144580 CCR4-NOT transcription complex subunit 9 CNOT9 RCD1 required for cell differentiation1 homolog (S. pombe), cancer/testis antigen 129 CAF40, CNOT9, CT129, RCD1, RCD1+, RQCD1 Yes No Ensembl:ENSG00000144580, GenAtlas:RQCD1, GeneCard:RQCD1, HGNC:HGNC:10445, HumanCyc Gene:HS07181, ModBase:Q92600, NCBI Gene:9125, OMIM:612054, RefSeq DNA:NT_005403, RefSeq Protein:NP_005435, RefSeq RNA:NM_005444, UCSC Genome Browser:NM_005444, UniProtKB:Q92600 No chr2 219433303 219461158 218568579 218596435 +PA26680 1267 HGNC:2158 ENSG00000173786 2',3'-cyclic nucleotide 3' phosphodiesterase CNP Yes No Ensembl:ENSG00000173786, GenAtlas:CNP, GeneCard:CNP, HGNC:HGNC:2158, HumanCyc Gene:HS10729, ModBase:P09543, NCBI Gene:1267, OMIM:123830, RefSeq DNA:NT_010783, RefSeq Protein:NP_149124, RefSeq RNA:NM_033133, UCSC Genome Browser:NM_033133, UniProtKB:P09543 No chr17 40118737 40129754 41966741 41977736 +PA134874121 27013 HGNC:25220 ENSG00000115649 cyclin Pas1/PHO80 domain containing 1 CNPPD1 C2orf24, CGI-57 Yes No Ensembl:ENSG00000115649, GeneCard:C2orf24, HGNC:HGNC:25220, HumanCyc Gene:HS12851, ModBase:Q9BV87, NCBI Gene:27013, RefSeq DNA:NT_005403, RefSeq Protein:NP_056495, RefSeq RNA:NM_015680, UniProtKB:Q9BV87 No chr2 220036619 220042885 219171897 219178174 +PA162382571 285888 HGNC:27786 ENSG00000146910 canopy FGF signaling regulator 1 CNPY1 canopy 1 homolog (zebrafish) Yes No Ensembl:ENSG00000146910, GeneCard:CNPY1, HGNC:HGNC:27786, NCBI Gene:285888, OMIM:612493, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_001096646, RefSeq RNA:NM_001103176, UniProtKB:Q3B7I2 No chr7 155293953 155326539 155501258 155533844 +PA162382584 10330 HGNC:13529 ENSG00000257727 canopy FGF signaling regulator 2 CNPY2 canopy 2 homolog (zebrafish) Cnpy2, HP10390, TMEM4, ZSIG9 Yes No Ensembl:ENSG00000257727, GeneCard:CNPY2, HGNC:HGNC:13529, HumanCyc Gene:HS07202, ModBase:Q9Y2B0, NCBI Gene:10330, OMIM:605861, RefSeq DNA:NT_029419, RefSeq Protein:NP_001177920, RefSeq Protein:NP_055070, RefSeq RNA:NM_001190991, RefSeq RNA:NM_014255, UniProtKB:Q9Y2B0 No chr12 56704212 56710128 56310428 56316344 +PA162382601 10695 HGNC:11968 ENSG00000137161 canopy FGF signaling regulator 3 CNPY3 canopy 3 homolog (zebrafish) CAG4A, TNRC5 Yes No Ensembl:ENSG00000137161, GeneCard:CNPY3, HGNC:HGNC:11968, HumanCyc Gene:HS13665, ModBase:Q9BT09, NCBI Gene:10695, OMIM:610774, RefSeq DNA:NT_007592, RefSeq Protein:NP_006577, RefSeq RNA:NM_006586, UniProtKB:Q9BT09 No chr6 42896860 42911666 42928002 42939287 +PA162382618 245812 HGNC:28631 ENSG00000166997 canopy FGF signaling regulator 4 CNPY4 canopy 4 homolog (zebrafish), protein associated with TLR4 MGC40499, PRAT4B Yes Yes Ensembl:ENSG00000166997, GeneCard:CNPY4, HGNC:HGNC:28631, HumanCyc Gene:HS15509, ModBase:Q8N129, NCBI Gene:245812, OMIM:610047, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_689968, RefSeq RNA:NM_152755, UniProtKB:Q8N129 No chr7 99717265 99723131 100119642 100125508 +PA26681 1268 HGNC:2159 ENSG00000118432 cannabinoid receptor 1 CNR1 cannabinoid receptor 1 (brain) CANN6, CB-R, CB1, CB1A, CB1K5, CNR Yes Yes Comparative Toxicogenomics Database:1268, Ensembl:ENSG00000118432, GenAtlas:CNR1, GeneCard:CNR1, HGNC:HGNC:2159, HumanCyc Gene:HS04219, IUPHAR Receptor:56, ModBase:P21554, NCBI Gene:1268, OMIM:114610, RefSeq DNA:NT_007299, RefSeq Protein:NP_001153698, RefSeq Protein:NP_001153730, RefSeq Protein:NP_001153731, RefSeq Protein:NP_001153732, RefSeq Protein:NP_057167, RefSeq Protein:NP_149421, RefSeq RNA:NM_001160226, RefSeq RNA:NM_001160258, RefSeq RNA:NM_001160259, RefSeq RNA:NM_001160260, RefSeq RNA:NM_016083, RefSeq RNA:NM_033181, UCSC Genome Browser:NM_001840, UniProtKB:P21554 No chr6 88849583 88876063 88139864 88167429 +PA26682 1269 HGNC:2160 ENSG00000188822 cannabinoid receptor 2 CNR2 cannabinoid receptor 2 (macrophage) CB2 Yes No Comparative Toxicogenomics Database:1269, Ensembl:ENSG00000188822, GenAtlas:CNR2, GeneCard:CNR2, HGNC:HGNC:2160, IUPHAR Receptor:57, ModBase:P34972, NCBI Gene:1269, OMIM:605051, RefSeq DNA:NT_004610, RefSeq Protein:NP_001832, RefSeq RNA:NM_001841, UCSC Genome Browser:NM_001841, UniProtKB:C6ES44, UniProtKB:P34972 No chr1 24197005 24285549 23870526 23913327 +PA162382635 25927 HGNC:24546 ENSG00000119865 cannabinoid receptor interacting protein 1 CNRIP1 C2orf32, CRIP1, CRIP1a, CRIP1b, DKFZP566K1924 Yes No Ensembl:ENSG00000119865, GeneCard:CNRIP1, HGNC:HGNC:24546, HumanCyc Gene:HS12961, NCBI Gene:25927, RefSeq DNA:NT_022184, RefSeq Protein:NP_001104571, RefSeq Protein:NP_056278, RefSeq RNA:NM_001111101, RefSeq RNA:NM_015463, UniProtKB:Q96F85 No chr2 68511303 68547183 68284171 68320051 +PA165751017 163882 HGNC:26486 ENSG00000162852 consortin, connexin sorting protein CNST protein phosphatase 1, regulatory subunit 64 C1orf71, FLJ32001, PPP1R64 Yes No Ensembl:ENSG00000162852, GeneCard:CNST, HGNC:HGNC:26486, HumanCyc Gene:HS14979, ModBase:Q6PJW8, NCBI Gene:163882, OMIM:613439, RefSeq DNA:NT_004836, RefSeq DNA:NT_167186, RefSeq Protein:NP_001132931, RefSeq Protein:NP_689822, RefSeq Protein:XP_001717316, RefSeq RNA:NM_001139459, RefSeq RNA:NM_152609, RefSeq RNA:XM_001717264, UniProtKB:Q6PJW8 No chr1 246729639 246831884 246566337 246668587 +PA142672089 124817 HGNC:26847 ENSG00000176563 cyclin N-terminal domain containing 1 CNTD1 CNTD, FLJ40137 Yes No Ensembl:ENSG00000176563, GeneCard:CNTD1, HGNC:HGNC:26847, HumanCyc Gene:HS11060, ModBase:Q8N815, NCBI Gene:124817, RefSeq DNA:NT_010783, RefSeq Protein:NP_775749, RefSeq RNA:NM_173478, UniProtKB:Q8N815 No chr17 40950609 40963605 42798667 42811587 +PA26683 1270 HGNC:2169 ENSG00000242689 ciliary neurotrophic factor CNTF Ciliary Neuronotrophic Factor HCNTF Yes Yes Comparative Toxicogenomics Database:1270, Ensembl:ENSG00000242689, GenAtlas:CNTF, GeneCard:CNTF, HGNC:HGNC:2169, ModBase:P26441, NCBI Gene:1270, OMIM:118945, RefSeq DNA:NG_008776, RefSeq DNA:NT_167190, RefSeq Protein:NP_000605, RefSeq RNA:NM_000614, UCSC Genome Browser:NM_000614, UniProtKB:P26441 No chr11 58390146 58393206 58622673 58625733 +PA26684 1271 HGNC:2170 ENSG00000122756 ciliary neurotrophic factor receptor CNTFR Yes No Comparative Toxicogenomics Database:1271, Ensembl:ENSG00000122756, GenAtlas:CNTFR, GeneCard:CNTFR, HGNC:HGNC:2170, HumanCyc Gene:HS04599, ModBase:P26992, NCBI Gene:1271, OMIM:118946, RefSeq DNA:NT_008413, RefSeq Protein:NP_001193940, RefSeq Protein:NP_001833, RefSeq Protein:NP_671693, RefSeq RNA:NM_001207011, RefSeq RNA:NM_001842, RefSeq RNA:NM_147164, UCSC Genome Browser:NM_001842, UniProtKB:P26992, UniProtKB:Q5U050 No chr9 34551425 34590713 34551432 34590386 +PA162382646 54875 HGNC:23432 ENSG00000044459 centlein CNTLN centlein, centrosomal protein C9orf101, C9orf39, FLJ20276, OTTHUMG00000019597, bA340N12.1 Yes No Ensembl:ENSG00000044459, GeneCard:CNTLN, HGNC:HGNC:23432, HumanCyc Gene:HS00577, NCBI Gene:54875, OMIM:611870, RefSeq DNA:NT_008413, RefSeq Protein:NP_001107867, RefSeq Protein:NP_060208, RefSeq RNA:NM_001114395, RefSeq RNA:NM_017738, UniProtKB:Q9NXG0 No chr9 17134989 17503921 17134991 17510019 +PA26685 1272 HGNC:2171 ENSG00000018236 contactin 1 CNTN1 glycoprotein gP135 F3, GP135 Yes No Comparative Toxicogenomics Database:1272, Ensembl:ENSG00000018236, GenAtlas:CNTN1, GeneCard:CNTN1, HGNC:HGNC:2171, HumanCyc Gene:HS00385, ModBase:Q12860, NCBI Gene:1272, OMIM:600016, OMIM:612540, RefSeq DNA:NG_012058, RefSeq DNA:NT_029419, RefSeq Protein:NP_001834, RefSeq Protein:NP_778203, RefSeq RNA:NM_001843, RefSeq RNA:NM_175038, UCSC Genome Browser:NM_001843, UniProtKB:Q12860 No chr12 41086244 41466214 40692439 41072412 +PA26686 6900 HGNC:2172 ENSG00000184144 contactin 2 CNTN2 contactin 2 (axonal) AXT, TAG-1, TAX, TAX1 Yes No Comparative Toxicogenomics Database:6900, Ensembl:ENSG00000184144, GenAtlas:CNTN2, GeneCard:CNTN2, HGNC:HGNC:2172, HumanCyc Gene:HS08876, ModBase:Q02246, NCBI Gene:6900, OMIM:190197, RefSeq DNA:NT_004487, RefSeq Protein:NP_005067, RefSeq RNA:NM_005076, UCSC Genome Browser:NM_005076, UniProtKB:Q02246 No chr1 205012340 205047173 205043160 205078043 +PA26687 5067 HGNC:2173 ENSG00000113805 contactin 3 CNTN3 contactin 3 (plasmacytoma associated) BIG-1, PANG Yes No Comparative Toxicogenomics Database:5067, Ensembl:ENSG00000113805, GenAtlas:CNTN3, GeneCard:CNTN3, HGNC:HGNC:2173, HumanCyc Gene:HS12804, ModBase:Q9P232, NCBI Gene:5067, OMIM:601325, RefSeq DNA:NT_022459, RefSeq Protein:NP_065923, RefSeq RNA:NM_020872, UniProtKB:Q9P232 No chr3 74311719 74663587 74262568 74614448 +PA26688 152330 HGNC:2174 ENSG00000144619 contactin 4 CNTN4 BIG-2 Yes Yes Ensembl:ENSG00000144619, GenAtlas:CNTN4, GeneCard:CNTN4, HGNC:HGNC:2174, ModBase:Q8IWV2, NCBI Gene:152330, OMIM:607280, RefSeq DNA:NG_012827, RefSeq DNA:NT_022517, RefSeq Protein:NP_001193884, RefSeq Protein:NP_001193885, RefSeq Protein:NP_783200, RefSeq Protein:NP_783301, RefSeq Protein:NP_783302, RefSeq RNA:NM_001206955, RefSeq RNA:NM_001206956, RefSeq RNA:NM_175607, RefSeq RNA:NM_175612, RefSeq RNA:NM_175613, UCSC Genome Browser:NM_175607, UniProtKB:B2RAX3, UniProtKB:Q8IWV2 No chr3 2140550 3099645 2098771 3059080 +PA26689 53942 HGNC:2175 ENSG00000149972 contactin 5 CNTN5 NB-2, hNB-2 Yes Yes Ensembl:ENSG00000149972, GenAtlas:CNTN5, GeneCard:CNTN5, HGNC:HGNC:2175, HumanCyc Gene:HS14311, ModBase:O94779, NCBI Gene:53942, OMIM:607219, RefSeq DNA:NT_033899, RefSeq Protein:NP_055176, RefSeq Protein:NP_780775, RefSeq RNA:NM_014361, RefSeq RNA:NM_175566, UCSC Genome Browser:NM_014361, UniProtKB:O94779, UniProtKB:Q49AF3 No chr11 98891706 100229616 99020904 100358885 +PA26690 27255 HGNC:2176 ENSG00000134115 contactin 6 CNTN6 neural adhesion molecule NB-3 Yes No Comparative Toxicogenomics Database:27255, Ensembl:ENSG00000134115, GenAtlas:CNTN6, GeneCard:CNTN6, HGNC:HGNC:2176, HumanCyc Gene:HS05821, ModBase:Q9UQ52, NCBI Gene:27255, OMIM:607220, RefSeq DNA:NT_022517, RefSeq Protein:NP_055276, RefSeq RNA:NM_014461, UCSC Genome Browser:NM_014461, UniProtKB:Q9UQ52 No chr3 1134342 1445278 978021 1403610 +PA26691 8506 HGNC:8011 ENSG00000108797 contactin associated protein 1 CNTNAP1 neurexin 4 CNTNAP, Caspr, NRXN4, p190 Yes No Comparative Toxicogenomics Database:8506, Ensembl:ENSG00000108797, GenAtlas:CNTNAP1, GeneCard:CNTNAP1, HGNC:HGNC:8011, HumanCyc Gene:HS03157, ModBase:P78357, NCBI Gene:8506, OMIM:602346, RefSeq DNA:NT_010783, RefSeq Protein:NP_003623, RefSeq RNA:NM_003632, UCSC Genome Browser:NM_003632, UniProtKB:P78357 No chr17 40834632 40852011 42679963 42699993 +PA26692 26047 HGNC:13830 ENSG00000174469 contactin associated protein 2 CNTNAP2 contactin associated protein like 2, contactin associated protein-like 2, contactin-associated protein-like 2 Caspr2, KIAA0868, NRXN4 Yes Yes Comparative Toxicogenomics Database:26047, Ensembl:ENSG00000174469, GenAtlas:CNTNAP2, GeneCard:CNTNAP2, HGNC:HGNC:13830, ModBase:Q9UHC6, NCBI Gene:26047, OMIM:604569, OMIM:610042, OMIM:612100, RefSeq DNA:NG_007092, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_054860, RefSeq RNA:NM_014141, UCSC Genome Browser:NM_014141, UniProtKB:B2RCH4, UniProtKB:Q9UHC6 No chr7 145813453 148118090 146116035 148420998 +PA134963289 79937 HGNC:13834 ENSG00000106714 contactin associated protein family member 3 CNTNAP3 """cell recognition molecule CASPR3"", ""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"", ""contactin associated protein like 3"", ""contactin associated protein-like 3""" CASPR3, CNTNAP3A, FLJ14195, KIAA1714 Yes No Ensembl:ENSG00000106714, GeneCard:CNTNAP3, HGNC:HGNC:13834, HumanCyc Gene:HS02945, HumanCyc Gene:HS07985, ModBase:Q9BZ76, NCBI Gene:79937, OMIM:610517, RefSeq DNA:NT_008413, RefSeq Protein:NP_387504, RefSeq RNA:NM_033655, UniProtKB:Q9BZ76 No chr9 39070196 39288300 39072767 39288303 +PA142672087 728577 HGNC:32035 ENSG00000154529 contactin associated protein family member 3B CNTNAP3B contactin associated protein like 3B, contactin associated protein-like 3B Yes No Ensembl:ENSG00000154529, GeneCard:CNTNAP3B, HGNC:HGNC:32035, ModBase:Q9H7W3, NCBI Gene:728577, RefSeq DNA:NT_078045, RefSeq Protein:NP_001188309, RefSeq Protein:XP_001128489, RefSeq Protein:XP_001720512, RefSeq RNA:NM_001201380, RefSeq RNA:XM_001128489, RefSeq RNA:XM_001720460 No chr9 43684885 43922476 41891887 42129504 +PA166180595 100289279 HGNC:53878 ENSG00000283378 contactin associated protein family member 3C CNTNAP3C contactin associated protein like 3C Yes No Ensembl:ENSG00000283378, HGNC:HGNC:53878, NCBI Gene:100289279 No 0 0 0 0 +PA134874662 85445 HGNC:18747 ENSG00000152910 contactin associated protein family member 4 CNTNAP4 contactin associated protein like 4, contactin associated protein-like 4 CASPR4, KIAA1763 Yes No Comparative Toxicogenomics Database:85445, Ensembl:ENSG00000152910, GeneCard:CNTNAP4, HGNC:HGNC:18747, HumanCyc Gene:HS07860, ModBase:Q9C0A0, NCBI Gene:85445, OMIM:610518, RefSeq DNA:NT_010498, RefSeq Protein:NP_207837, RefSeq Protein:NP_620481, RefSeq RNA:NM_033401, RefSeq RNA:NM_138994, UniProtKB:Q86YZ7, UniProtKB:Q9C0A0 No chr16 76311176 76593135 76277217 76563610 +PA134898715 129684 HGNC:18748 ENSG00000155052 contactin associated protein family member 5 CNTNAP5 contactin associated protein like 5, contactin associated protein-like 5 FLJ31966, caspr5 Yes No Ensembl:ENSG00000155052, GeneCard:CNTNAP5, HGNC:HGNC:18748, HumanCyc Gene:HS08024, ModBase:Q8WYK1, NCBI Gene:129684, OMIM:610519, RefSeq DNA:NT_022135, RefSeq Protein:NP_570129, RefSeq RNA:NM_130773, UniProtKB:Q8WYK1 No chr2 124782864 125672954 124025287 124921201 +PA26414 11064 HGNC:1858 ENSG00000119397 centriolin CNTRL CEP1, CEP110 Yes No Comparative Toxicogenomics Database:11064, Ensembl:ENSG00000119397, GenAtlas:CEP110, GeneCard:CEP110, HGNC:HGNC:1858, HumanCyc Gene:HS04289, ModBase:Q8TEP3, NCBI Gene:11064, OMIM:605496, RefSeq DNA:NT_008470, RefSeq Protein:NP_008949, RefSeq RNA:NM_007018, UCSC Genome Browser:NM_007018, UniProtKB:Q7Z7A1 No chr9 123837170 123939888 121074778 121177610 +PA143485436 116840 HGNC:29616 ENSG00000170037 centrobin, centriole duplication and spindle assembly protein CNTROB """centrobin"", ""centrobin, centrosomal BRCA2 interacting protein""" LIP8, PP1221 Yes No Comparative Toxicogenomics Database:116840, Ensembl:ENSG00000170037, GeneCard:CNTROB, HGNC:HGNC:29616, ModBase:Q8N137, NCBI Gene:116840, OMIM:611425, RefSeq DNA:NT_010718, RefSeq Protein:NP_001032221, RefSeq Protein:NP_444279, RefSeq RNA:NM_001037144, RefSeq RNA:NM_053051, UniProtKB:Q8N137 No chr17 7835442 7853237 7932054 7949919 +PA162380473 55744 HGNC:21868 ENSG00000106603 cytochrome c oxidase assembly factor 1 COA1 cytochrome c oxidase assembly factor 1 homolog, cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) C7orf44, FLJ10803, MITRAC15 Yes No Comparative Toxicogenomics Database:55744, Ensembl:ENSG00000106603, GeneCard:C7orf44, HGNC:HGNC:21868, HumanCyc Gene:HS12637, ModBase:Q9GZY4, NCBI Gene:55744, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_060694, RefSeq RNA:NM_018224, UCSC Genome Browser:NM_018224, UniProtKB:Q9GZY4 No chr7 43648052 43769140 43608452 43729541 +PA142672172 28958 HGNC:24990 ENSG00000183978 cytochrome c oxidase assembly factor 3 COA3 CCDC56, COX25, HSPC009, MITRAC12, hCOA3 Yes No Comparative Toxicogenomics Database:28958, Ensembl:ENSG00000183978, GeneCard:CCDC56, HGNC:HGNC:24990, NCBI Gene:28958, RefSeq DNA:NT_010783, RefSeq Protein:NP_001035521, RefSeq RNA:NM_001040431, UniProtKB:Q9Y2R0 No chr17 40949636 40950743 42797618 42798725 +PA142672121 51287 HGNC:24604 ENSG00000181924 cytochrome c oxidase assembly factor 4 homolog COA4 cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae) CHCHD8, CMC3, E2IG2 Yes No Ensembl:ENSG00000181924, GeneCard:CHCHD8, HGNC:HGNC:24604, HumanCyc Gene:HS17750, NCBI Gene:51287, OMIM:608016, RefSeq DNA:NT_167190, RefSeq Protein:NP_057649, RefSeq RNA:NM_016565, UniProtKB:Q9NYJ1 No chr11 73583712 73587890 73870258 73876901 +PA162379390 493753 HGNC:33848 ENSG00000183513 cytochrome c oxidase assembly factor 5 COA5 C2orf64, FLJ27524, MGC52110, Pet191 Yes No Ensembl:ENSG00000183513, GeneCard:COA5, HGNC:HGNC:33848, NCBI Gene:493753, RefSeq DNA:NT_022171, RefSeq Protein:NP_001008216, RefSeq RNA:NM_001008215, UniProtKB:Q86WW8 No chr2 99215786 99224981 98599323 98608518 +PA25617 388753 HGNC:18025 ENSG00000168275 cytochrome c oxidase assembly factor 6 COA6 cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) C1orf31 Yes No Ensembl:ENSG00000168275, GenAtlas:C1orf31, GeneCard:C1orf31, HGNC:HGNC:18025, ModBase:Q5JTJ3, NCBI Gene:388753, RefSeq DNA:NT_167186, RefSeq Protein:NP_001013003, RefSeq Protein:NP_001193570, RefSeq RNA:NM_001012985, RefSeq RNA:NM_001206641, UniProtKB:Q5JTJ3 No chr1 234508932 234519795 234373437 234384049 +PA142672414 65260 HGNC:25716 ENSG00000162377 cytochrome c oxidase assembly factor 7 COA7 Sel1 repeat containing 1, cytochrome c oxidase assembly factor 7 (putative), respiratory chain assembly 1 C1orf163, FLJ12439, RESA1, SELRC1 Yes No Ensembl:ENSG00000162377, GeneCard:C1orf163, HGNC:HGNC:25716, HumanCyc Gene:HS14908, ModBase:Q96BR5, NCBI Gene:65260, RefSeq DNA:NT_032977, RefSeq Protein:NP_075565, RefSeq RNA:NM_023077, UniProtKB:Q96BR5 No chr1 53152014 53164038 52686342 52698366 +PA134961925 84334 HGNC:20492 ENSG00000256053 cytochrome c oxidase assembly factor 8 COA8 """apoptogenic 1, mitochondrial"", ""apoptogenic protein 1""" APOP-1, APOPT1, C14orf153, MGC2562 Yes No Ensembl:ENSG00000256053, GeneCard:C14orf153, HGNC:HGNC:20492, NCBI Gene:84334, RefSeq DNA:NT_026437, RefSeq Protein:NP_001357524, RefSeq RNA:NM_001370595, UniProtKB:Q96IL0 No chr14 104029299 104057236 103562957 103592187 +PA134867942 80347 HGNC:29932 ENSG00000068120 Coenzyme A synthase COASY CoA synthase, bifunctional Coenzyme A synthase CoASY, DPCK, NBP, PPAT Yes No Comparative Toxicogenomics Database:80347, Ensembl:ENSG00000068120, GeneCard:COASY, HGNC:HGNC:29932, HumanCyc Gene:HS00931, ModBase:Q13057, NCBI Gene:80347, OMIM:609855, RefSeq DNA:NT_010783, RefSeq Protein:NP_001035994, RefSeq Protein:NP_001035995, RefSeq Protein:NP_001035996, RefSeq Protein:NP_001035997, RefSeq Protein:NP_079509, RefSeq RNA:NM_001042529, RefSeq RNA:NM_001042530, RefSeq RNA:NM_001042531, RefSeq RNA:NM_001042532, RefSeq RNA:NM_025233, UniProtKB:Q13057 No chr17 40713485 40718299 42562074 42566281 +PA134869580 23242 HGNC:22199 ENSG00000106078 cordon-bleu WH2 repeat protein COBL KIAA0633 Yes No Comparative Toxicogenomics Database:23242, Ensembl:ENSG00000106078, GeneCard:COBL, HGNC:HGNC:22199, HumanCyc Gene:HS12623, ModBase:O75128, NCBI Gene:23242, OMIM:610317, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_056013, RefSeq RNA:NM_015198, UniProtKB:O75128 No chr7 51083909 51384515 51016212 51316818 +PA134990267 22837 HGNC:23571 ENSG00000082438 cordon-bleu WH2 repeat protein like 1 COBLL1 cordon-bleu WH2 repeat protein-like 1 KIAA0977 Yes No Comparative Toxicogenomics Database:22837, Ensembl:ENSG00000082438, GeneCard:COBLL1, HGNC:HGNC:23571, HumanCyc Gene:HS12269, NCBI Gene:22837, OMIM:610318, RefSeq DNA:NT_005403, RefSeq Protein:NP_055715, RefSeq RNA:NM_014900, UniProtKB:Q53SF7 No chr2 165536695 165698678 164680185 164842168 +PA26693 1690 HGNC:2180 ENSG00000100473 cochlin COCH COCH-5B2, DFNA31, DFNA9 Yes Yes Comparative Toxicogenomics Database:1690, Ensembl:ENSG00000100473, GenAtlas:COCH, GeneCard:COCH, HGNC:HGNC:2180, HumanCyc Gene:HS02093, ModBase:O43405, NCBI Gene:1690, OMIM:601369, OMIM:603196, RefSeq DNA:NG_008211, RefSeq DNA:NT_026437, RefSeq Protein:NP_001128530, RefSeq Protein:NP_004077, RefSeq RNA:NM_001135058, RefSeq RNA:NM_004086, UCSC Genome Browser:NM_004086, UniProtKB:O43405 No chr14 31343741 31364285 30874496 30890618 +PA26696 9382 HGNC:6545 ENSG00000166685 component of oligomeric golgi complex 1 COG1 KIAA1381, LDLB Yes No Comparative Toxicogenomics Database:9382, Ensembl:ENSG00000166685, GenAtlas:COG1, GeneCard:COG1, HGNC:HGNC:6545, HumanCyc Gene:HS09437, ModBase:Q8WTW3, NCBI Gene:9382, OMIM:606973, OMIM:611209, RefSeq DNA:NG_008971, RefSeq DNA:NT_010783, RefSeq Protein:NP_061184, RefSeq RNA:NM_018714, UCSC Genome Browser:NM_018714, UniProtKB:Q8WTW3 No chr17 71189070 71204646 73193034 73208507 +PA26697 22796 HGNC:6546 ENSG00000135775 component of oligomeric golgi complex 2 COG2 LDLC Yes No Ensembl:ENSG00000135775, GenAtlas:COG2, GeneCard:COG2, HGNC:HGNC:6546, HumanCyc Gene:HS06062, ModBase:Q14746, NCBI Gene:22796, OMIM:606974, RefSeq DNA:NT_167186, RefSeq Protein:NP_001138508, RefSeq Protein:NP_031383, RefSeq RNA:NM_001145036, RefSeq RNA:NM_007357, UCSC Genome Browser:NM_007357, UniProtKB:B1ALW7, UniProtKB:Q14746, UniProtKB:Q86U99 No chr1 230778202 230829731 230642456 230693985 +PA38602 83548 HGNC:18619 ENSG00000136152 component of oligomeric golgi complex 3 COG3 Conserved oligomeric Golgi complex subunit 3 SEC34 Yes No Comparative Toxicogenomics Database:83548, Ensembl:ENSG00000136152, GenAtlas:COG3, GeneCard:COG3, HGNC:HGNC:18619, HumanCyc Gene:HS06120, NCBI Gene:83548, OMIM:606975, RefSeq DNA:NT_024524, RefSeq Protein:NP_113619, RefSeq RNA:NM_031431, UCSC Genome Browser:NM_031431, UniProtKB:Q96JB2 No chr13 46039030 46110833 45464895 45536698 +PA38603 25839 HGNC:18620 ENSG00000103051 component of oligomeric golgi complex 4 COG4 COD1, DKFZP586E1519 Yes No Comparative Toxicogenomics Database:25839, Ensembl:ENSG00000103051, GenAtlas:COG4, GeneCard:COG4, HGNC:HGNC:18620, HumanCyc Gene:HS02448, NCBI Gene:25839, OMIM:606976, RefSeq DNA:NT_010498, RefSeq Protein:NP_001182068, RefSeq Protein:NP_056201, RefSeq RNA:NM_001195139, RefSeq RNA:NM_015386, UCSC Genome Browser:NM_015386, UniProtKB:Q8N8L9, UniProtKB:Q9H9E3 No chr16 70514472 70557457 70480569 70523554 +PA26698 10466 HGNC:14857 ENSG00000164597 component of oligomeric golgi complex 5 COG5 GOLTC1, GTC90 Yes No Ensembl:ENSG00000164597, GenAtlas:COG5, GeneCard:COG5, HGNC:HGNC:14857, HumanCyc Gene:HS09098, ModBase:Q9UP83, NCBI Gene:10466, OMIM:606821, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001154992, RefSeq Protein:NP_006339, RefSeq Protein:NP_859422, RefSeq RNA:NM_001161520, RefSeq RNA:NM_006348, RefSeq RNA:NM_181733, UCSC Genome Browser:NM_006348, UniProtKB:A8MUI4, UniProtKB:Q9UP83 No chr7 106842189 107204959 107201743 107564514 +PA38604 57511 HGNC:18621 ENSG00000133103 component of oligomeric golgi complex 6 COG6 COD2, KIAA1134 Yes No Ensembl:ENSG00000133103, GenAtlas:COG6, GeneCard:COG6, HGNC:HGNC:18621, HumanCyc Gene:HS05732, ModBase:Q9Y2V7, NCBI Gene:57511, OMIM:606977, RefSeq DNA:NT_024524, RefSeq Protein:NP_001138551, RefSeq Protein:NP_065802, RefSeq RNA:NM_001145079, RefSeq RNA:NM_020751, RefSeq RNA:NR_026745, UCSC Genome Browser:NM_020751, UniProtKB:Q9Y2V7 No chr13 40229764 40365802 39655627 39791665 +PA38605 91949 HGNC:18622 ENSG00000168434 component of oligomeric golgi complex 7 COG7 Yes No Comparative Toxicogenomics Database:91949, Ensembl:ENSG00000168434, GenAtlas:COG7, GeneCard:COG7, HGNC:HGNC:18622, HumanCyc Gene:HS09757, ModBase:P83436, NCBI Gene:91949, OMIM:606978, OMIM:608779, RefSeq DNA:NG_021287, RefSeq DNA:NT_010393, RefSeq Protein:NP_705831, RefSeq RNA:NM_153603, UCSC Genome Browser:NM_153603, UniProtKB:P83436 No chr16 23399814 23464583 23388493 23453215 +PA38606 84342 HGNC:18623 ENSG00000213380 component of oligomeric golgi complex 8 COG8 DOR1, FLJ22315 Yes No Comparative Toxicogenomics Database:84342, Ensembl:ENSG00000213380, GenAtlas:COG8, GeneCard:COG8, HGNC:HGNC:18623, HumanCyc Gene:HS08199, ModBase:Q96MW5, NCBI Gene:84342, OMIM:606979, OMIM:611182, RefSeq DNA:NG_009013, RefSeq DNA:NT_010498, RefSeq Protein:NP_115758, RefSeq RNA:NM_032382, UCSC Genome Browser:NM_032382, UniProtKB:Q96MW5 No chr16 69362524 69373526 69328621 69339623 +PA26700 8161 HGNC:2184 ENSG00000121058 coilin COIL CLN80, p80-coilin Yes No Comparative Toxicogenomics Database:8161, Ensembl:ENSG00000121058, GenAtlas:COIL, GeneCard:COIL, HGNC:HGNC:2184, HumanCyc Gene:HS04465, ModBase:P38432, NCBI Gene:8161, OMIM:600272, RefSeq DNA:NT_010783, RefSeq Protein:NP_004636, RefSeq RNA:NM_004645, UCSC Genome Browser:NM_004645, UniProtKB:P38432 No chr17 55015560 55038411 56938199 56961050 +PA134992490 317784 HGNC:19927 ENSG00000259100 coilin pseudogene 1 COILP1 Yes No Ensembl:ENSG00000259100, HGNC:HGNC:19927, NCBI Gene:317784, RefSeq DNA:NG_002476, RefSeq DNA:NT_026437 No chr14 39853724 39856332 39384520 39387128 +PA26701 1300 HGNC:2185 ENSG00000123500 collagen type X alpha 1 chain COL10A1 """Schmid metaphyseal chondrodysplasia"", ""collagen, type X, alpha 1""" Yes No Comparative Toxicogenomics Database:1300, Ensembl:ENSG00000123500, GenAtlas:COL10A1, GeneCard:COL10A1, HGNC:HGNC:2185, HumanCyc Gene:HS04666, ModBase:Q03692, NCBI Gene:1300, OMIM:120110, RefSeq DNA:NG_008032, RefSeq DNA:NT_025741, RefSeq Protein:NP_000484, RefSeq RNA:NM_000493, UCSC Genome Browser:NM_000493, UniProtKB:Q03692 No chr6 116440085 116447296 116118909 116218698 +PA26702 1301 HGNC:2186 ENSG00000060718 collagen type XI alpha 1 chain COL11A1 """collagen XI, alpha-1 polypeptide"", ""collagen, type XI, alpha 1""" CO11A1, COLL6, DFNA37, STL2 Yes No Comparative Toxicogenomics Database:1301, Ensembl:ENSG00000060718, GenAtlas:COL11A1, GeneCard:COL11A1, HGNC:HGNC:2186, HumanCyc Gene:HS00750, ModBase:P12107, NCBI Gene:1301, OMIM:120280, OMIM:154780, OMIM:603932, OMIM:604841, RefSeq DNA:NG_008033, RefSeq DNA:NT_032977, RefSeq Protein:NP_001177638, RefSeq Protein:NP_001845, RefSeq Protein:NP_542196, RefSeq Protein:NP_542197, RefSeq RNA:NM_001190709, RefSeq RNA:NM_001854, RefSeq RNA:NM_080629, RefSeq RNA:NM_080630, UCSC Genome Browser:NM_001854, UniProtKB:P12107, UniProtKB:Q59HB5 No chr1 103342023 103574052 102876467 103108580 +PA26703 1302 HGNC:2187 ENSG00000204248, ENSG00000206290, ENSG00000227801, ENSG00000230930, ENSG00000235708 collagen type XI alpha 2 chain COL11A2 collagen, type XI, alpha 2 DFNA13, DFNB53, HKE5 Yes No Comparative Toxicogenomics Database:1302, Ensembl:ENSG00000204248, Ensembl:ENSG00000206290, Ensembl:ENSG00000227801, Ensembl:ENSG00000230930, Ensembl:ENSG00000235708, GenAtlas:COL11A2, GeneCard:COL11A2, HGNC:HGNC:2187, HumanCyc Gene:HS03517, ModBase:P13942, NCBI Gene:1302, OMIM:120290, OMIM:184840, OMIM:215150, OMIM:277610, OMIM:601868, OMIM:609706, RefSeq DNA:NG_011589, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001157243, RefSeq Protein:NP_542410, RefSeq Protein:NP_542411, RefSeq Protein:NP_542412, RefSeq RNA:NM_001163771, RefSeq RNA:NM_080679, RefSeq RNA:NM_080680, RefSeq RNA:NM_080681, UCSC Genome Browser:NM_080679, UniProtKB:P13942, UniProtKB:Q7Z6C3 No chr6 33130469 33160245 33162692 33193009 +PA134963366 394214 HGNC:13947 ENSG00000228688 collagen, type XI, alpha 2 pseudogene 1 COL11A2P1 cD0826Q1.1 Yes No Ensembl:ENSG00000228688, GeneCard:COL11A2P, HGNC:HGNC:13947, NCBI Gene:394214, RefSeq DNA:NG_007926, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 33071470 33074921 33103693 33107144 +PA26704 1303 HGNC:2188 ENSG00000111799 collagen type XII alpha 1 chain COL12A1 """collagen type XII proteoglycan"", ""collagen, type XII, alpha 1""" COL12A1L Yes No Comparative Toxicogenomics Database:1303, Ensembl:ENSG00000111799, GenAtlas:COL12A1, GeneCard:COL12A1, HGNC:HGNC:2188, HumanCyc Gene:HS03468, ModBase:Q99715, NCBI Gene:1303, OMIM:120320, RefSeq DNA:NT_007299, RefSeq Protein:NP_004361, RefSeq Protein:NP_542376, RefSeq RNA:NM_004370, RefSeq RNA:NM_080645, UCSC Genome Browser:NM_004370, UniProtKB:Q99715 No chr6 75794042 75915623 75084326 75206262 +PA26706 1305 HGNC:2190 ENSG00000197467 collagen type XIII alpha 1 chain COL13A1 collagen, type XIII, alpha 1 Yes No Comparative Toxicogenomics Database:1305, Ensembl:ENSG00000197467, GenAtlas:COL13A1, GeneCard:COL13A1, HGNC:HGNC:2190, ModBase:Q5TAT5, NCBI Gene:1305, OMIM:120350, RefSeq DNA:NT_030059, RefSeq Protein:NP_001123575, RefSeq Protein:NP_005194, RefSeq Protein:NP_542988, RefSeq Protein:NP_542989, RefSeq Protein:NP_542990, RefSeq Protein:NP_542991, RefSeq Protein:NP_542992, RefSeq Protein:NP_542993, RefSeq Protein:NP_542994, RefSeq Protein:NP_542995, RefSeq Protein:NP_542996, RefSeq Protein:NP_542997, RefSeq Protein:NP_542998, RefSeq Protein:NP_542999, RefSeq Protein:NP_543000, RefSeq Protein:NP_543001, RefSeq Protein:NP_543002, RefSeq Protein:NP_543003, RefSeq Protein:NP_543004, RefSeq Protein:NP_543005, RefSeq RNA:NM_001130103, RefSeq RNA:NM_005203, RefSeq RNA:NM_080798, RefSeq RNA:NM_080799, RefSeq RNA:NM_080800, RefSeq RNA:NM_080801, RefSeq RNA:NM_080802, RefSeq RNA:NM_080803, RefSeq RNA:NM_080804, RefSeq RNA:NM_080805, RefSeq RNA:NM_080806, RefSeq RNA:NM_080807, RefSeq RNA:NM_080808, RefSeq RNA:NM_080809, RefSeq RNA:NM_080810, RefSeq RNA:NM_080811, RefSeq RNA:NM_080812, RefSeq RNA:NM_080813, RefSeq RNA:NM_080814, RefSeq RNA:NM_080815, UCSC Genome Browser:NM_080815, UniProtKB:B9EGD2, UniProtKB:Q5TAT6 No chr10 71561644 71718904 69801885 69959148 +PA26707 7373 HGNC:2191 ENSG00000187955 collagen type XIV alpha 1 chain COL14A1 collagen, type XIV, alpha 1 UND Yes No Comparative Toxicogenomics Database:7373, Ensembl:ENSG00000187955, GenAtlas:COL14A1, GeneCard:COL14A1, HGNC:HGNC:2191, ModBase:Q05707, NCBI Gene:7373, OMIM:120324, RefSeq DNA:NT_008046, RefSeq Protein:NP_066933, RefSeq RNA:NM_021110, UniProtKB:Q05707 No chr8 121137347 121384273 120124468 120373575 +PA26708 1306 HGNC:2192 ENSG00000204291 collagen type XV alpha 1 chain COL15A1 """collagen type XV proteoglycan"", ""collagen, type XV, alpha 1""" Yes No Comparative Toxicogenomics Database:1306, Ensembl:ENSG00000204291, GenAtlas:COL15A1, GeneCard:COL15A1, HGNC:HGNC:2192, ModBase:P39059, NCBI Gene:1306, OMIM:120325, RefSeq DNA:NT_008470, RefSeq Protein:NP_001846, RefSeq RNA:NM_001855, UCSC Genome Browser:NM_001855, UniProtKB:P39059 No chr9 101705995 101833074 98943392 99070792 +PA26709 1307 HGNC:2193 ENSG00000084636 collagen type XVI alpha 1 chain COL16A1 collagen, type XVI, alpha 1 Yes No Comparative Toxicogenomics Database:1307, Ensembl:ENSG00000084636, GenAtlas:COL16A1, GeneCard:COL16A1, HGNC:HGNC:2193, HumanCyc Gene:HS01473, ModBase:Q07092, NCBI Gene:1307, OMIM:120326, RefSeq DNA:NT_032977, RefSeq Protein:NP_001847, RefSeq RNA:NM_001856, UCSC Genome Browser:NM_001856, UniProtKB:Q07092 No chr1 32117848 32169768 31652247 31704167 +PA26710 1308 HGNC:2194 ENSG00000065618 collagen type XVII alpha 1 chain COL17A1 collagen, type XVII, alpha 1 BP180, BPAG2 Yes No Comparative Toxicogenomics Database:1308, Ensembl:ENSG00000065618, GenAtlas:COL17A1, GeneCard:COL17A1, HGNC:HGNC:2194, HumanCyc Gene:HS00850, ModBase:Q9UMD9, NCBI Gene:1308, OMIM:113811, OMIM:226650, RefSeq DNA:NG_007069, RefSeq DNA:NT_030059, RefSeq Protein:NP_000485, RefSeq RNA:NM_000494, UCSC Genome Browser:NM_000494, UniProtKB:Q9UMD9 No chr10 105791046 105845638 104031288 104085880 +PA26711 80781 HGNC:2195 ENSG00000182871 collagen type XVIII alpha 1 chain COL18A1 """collagen, type XVIII, alpha 1"", ""endostatin""" KNO, KNO1, KS Yes Yes Comparative Toxicogenomics Database:80781, Ensembl:ENSG00000182871, GenAtlas:COL18A1, GeneCard:COL18A1, HGNC:HGNC:2195, NCBI Gene:80781, OMIM:120328, OMIM:267750, RefSeq DNA:NG_011903, RefSeq DNA:NT_011515, RefSeq Protein:NP_085059, RefSeq Protein:NP_569711, RefSeq Protein:NP_569712, RefSeq RNA:NM_030582, RefSeq RNA:NM_130444, RefSeq RNA:NM_130445, UCSC Genome Browser:NM_030582, UniProtKB:P39060 No chr21 46825058 46933634 45405137 45513720 +PA165378436 378832 HGNC:23132 ENSG00000183535 COL18A1 antisense RNA 1 COL18A1-AS1 PRED80 Yes No Ensembl:ENSG00000183535, GeneCard:NCRNA00175, HGNC:HGNC:23132, NCBI Gene:378832, RefSeq DNA:NT_011515, RefSeq Protein:NP_954644, RefSeq RNA:NM_199175, RefSeq RNA:NR_027498, RefSeq RNA:NR_028082, UniProtKB:Q8N8W7 No chr21 46839631 46844985 45419716 45425070 +PA26712 1310 HGNC:2196 ENSG00000082293 collagen type XIX alpha 1 chain COL19A1 collagen, type XIX, alpha 1 Yes No Ensembl:ENSG00000082293, GenAtlas:COL19A1, GeneCard:COL19A1, HGNC:HGNC:2196, HumanCyc Gene:HS01420, ModBase:Q9H572, NCBI Gene:1310, OMIM:120165, RefSeq DNA:NT_007299, RefSeq Protein:NP_001849, RefSeq RNA:NM_001858, UCSC Genome Browser:NM_001858, UniProtKB:Q14993 No chr6 70576448 70922157 69866556 70215063 +PA35041 1277 HGNC:2197 ENSG00000108821 collagen type I alpha 1 chain COL1A1 collagen, type I, alpha 1 OI4 Yes Yes Comparative Toxicogenomics Database:1277, Ensembl:ENSG00000108821, GenAtlas:COL1A1, GeneCard:COL1A1, HGNC:HGNC:2197, HumanCyc Gene:HS03161, ModBase:Q9UML6, NCBI Gene:1277, OMIM:114000, OMIM:120150, OMIM:130000, OMIM:130060, OMIM:166200, OMIM:166210, OMIM:166220, OMIM:166710, OMIM:259420, RefSeq DNA:NG_007400, RefSeq DNA:NT_010783, RefSeq Protein:NP_000079, RefSeq RNA:NM_000088, UCSC Genome Browser:NM_000088, UniProtKB:P02452 No chr17 48261457 48279003 50184096 50201648 +PA35042 1278 HGNC:2198 ENSG00000164692 collagen type I alpha 2 chain COL1A2 """alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"", ""collagen, type I, alpha 2"", ""type I procollagen""" OI4 Yes Yes Comparative Toxicogenomics Database:1278, Ensembl:ENSG00000164692, GenAtlas:COL1A2, GeneCard:COL1A2, HGNC:HGNC:2198, HumanCyc Gene:HS09118, NCBI Gene:1278, OMIM:120160, OMIM:130060, OMIM:166220, OMIM:166710, OMIM:225320, RefSeq DNA:NG_007405, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000080, RefSeq RNA:NM_000089, UCSC Genome Browser:NM_000089, UniProtKB:P08123 No chr7 94023873 94060544 94394561 94431232 +PA26713 1279 HGNC:2199 collagen, type I, alpha, receptor COL1AR Yes No GenAtlas:COL1AR, GeneCard:COL1AR, HGNC:HGNC:2199, NCBI Gene:1279, OMIM:120340 No chr15 +PA142672086 57642 HGNC:14670 ENSG00000101203 collagen type XX alpha 1 chain COL20A1 """Collagen alpha-1(XX) chain"", ""collagen, type XX, alpha 1""" KIAA1510 Yes No Ensembl:ENSG00000101203, GeneCard:COL20A1, HGNC:HGNC:14670, NCBI Gene:57642, RefSeq DNA:NT_011333, RefSeq Protein:NP_065933, RefSeq RNA:NM_020882, UniProtKB:Q9P218 No chr20 61924538 61962285 63293169 63334847 +PA26714 81578 HGNC:17025 ENSG00000124749 collagen type XXI alpha 1 chain COL21A1 collagen, type XXI, alpha 1 Yes No Ensembl:ENSG00000124749, GenAtlas:COL21A1, GeneCard:COL21A1, HGNC:HGNC:17025, HumanCyc Gene:HS04826, ModBase:Q96P44, NCBI Gene:81578, OMIM:610002, RefSeq DNA:NT_007592, RefSeq Protein:NP_110447, RefSeq RNA:NM_030820, UCSC Genome Browser:NM_030820, UniProtKB:A6NCN3, UniProtKB:Q96P44 No chr6 55921388 56112544 56056590 56394128 +PA134914705 169044 HGNC:22989 ENSG00000169436 collagen type XXII alpha 1 chain COL22A1 collagen, type XXII, alpha 1 Yes Yes Comparative Toxicogenomics Database:169044, Ensembl:ENSG00000169436, GeneCard:COL22A1, HGNC:HGNC:22989, ModBase:Q8NFW1, NCBI Gene:169044, OMIM:610026, RefSeq DNA:NT_008046, RefSeq Protein:NP_690848, RefSeq Protein:XP_002346166, RefSeq RNA:NM_152888, RefSeq RNA:XM_002346125, UniProtKB:Q8NFW1 No chr8 139600478 139926236 138588235 138914087 +PA134899251 91522 HGNC:22990 ENSG00000050767 collagen type XXIII alpha 1 chain COL23A1 collagen, type XXIII, alpha 1 DKFZp434K0621 Yes No Ensembl:ENSG00000050767, GeneCard:COL23A1, HGNC:HGNC:22990, ModBase:Q86Y22, NCBI Gene:91522, OMIM:610043, RefSeq DNA:NT_023133, RefSeq Protein:NP_775736, RefSeq RNA:NM_173465, UniProtKB:Q86Y22 No chr5 177664617 178017573 178237616 178590555 +PA134932695 255631 HGNC:20821 ENSG00000171502 collagen type XXIV alpha 1 chain COL24A1 collagen, type XXIV, alpha 1 Yes No Ensembl:ENSG00000171502, GeneCard:COL24A1, HGNC:HGNC:20821, HumanCyc Gene:HS10325, NCBI Gene:255631, OMIM:610025, RefSeq DNA:NT_032977, RefSeq Protein:NP_690850, RefSeq RNA:NM_152890, UniProtKB:Q17RW2 No chr1 86194916 86622121 85728507 86156987 +PA134912284 84570 HGNC:18603 ENSG00000188517 collagen type XXV alpha 1 chain COL25A1 collagen, type XXV, alpha 1 Yes No Ensembl:ENSG00000188517, GeneCard:COL25A1, HGNC:HGNC:18603, NCBI Gene:84570, OMIM:610004, RefSeq DNA:NT_016354, RefSeq Protein:NP_115907, RefSeq Protein:NP_942014, RefSeq RNA:NM_032518, RefSeq RNA:NM_198721, UniProtKB:Q9BXS0 No chr4 109731877 110223799 108808725 109302737 +PA134887081 136227 HGNC:18038 ENSG00000160963 collagen type XXVI alpha 1 chain COL26A1 """Emu2 gene"", ""collagen, type XXVI, alpha 1""" EMI6, EMID2, Emu2 Yes Yes Comparative Toxicogenomics Database:136227, Ensembl:ENSG00000160963, GeneCard:EMID2, HGNC:HGNC:18038, HumanCyc Gene:HS14840, ModBase:Q96A83, NCBI Gene:136227, OMIM:608927, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_597714, RefSeq RNA:NM_133457, UniProtKB:Q96A83 No chr7 101006101 101202304 101362369 101559024 +PA134990818 85301 HGNC:22986 ENSG00000196739 collagen type XXVII alpha 1 chain COL27A1 collagen, type XXVII, alpha 1 FLJ11895, KIAA1870, MGC11337 Yes No Ensembl:ENSG00000196739, GeneCard:COL27A1, HGNC:HGNC:22986, ModBase:Q8IZC6, NCBI Gene:85301, OMIM:608461, RefSeq DNA:NT_008470, RefSeq Protein:NP_116277, RefSeq RNA:NM_032888, UniProtKB:Q8IZC6 No chr9 116918231 117072975 114154271 114312516 +PA143485437 340267 HGNC:22442 ENSG00000215018 collagen type XXVIII alpha 1 chain COL28A1 collagen, type XXVIII, alpha 1 Yes No Ensembl:ENSG00000215018, GeneCard:COL28A1, HGNC:HGNC:22442, ModBase:Q2UY09, NCBI Gene:340267, OMIM:609996, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001032852, RefSeq RNA:NM_001037763, UniProtKB:Q2UY09 No chr7 7398244 7575460 7338543 7542062 +PA26715 1280 HGNC:2200 ENSG00000139219 collagen type II alpha 1 chain COL2A1 collagen, type II, alpha 1 AOM, SEDC, STL1 Yes Yes Comparative Toxicogenomics Database:1280, Ensembl:ENSG00000139219, GenAtlas:COL2A1, GeneCard:COL2A1, HGNC:HGNC:2200, HumanCyc Gene:HS06598, ModBase:Q96IT5, NCBI Gene:1280, OMIM:108300, OMIM:120140, OMIM:132450, OMIM:150600, OMIM:151210, OMIM:156550, OMIM:183900, OMIM:184250, OMIM:184252, OMIM:200610, OMIM:215150, OMIM:271700, OMIM:604864, OMIM:608805, OMIM:609508, RefSeq DNA:NG_008072, RefSeq DNA:NT_029419, RefSeq Protein:NP_001835, RefSeq Protein:NP_149162, RefSeq RNA:NM_001844, RefSeq RNA:NM_033150, UCSC Genome Browser:NM_001844, UniProtKB:P02458 No chr12 48366748 48398285 47972965 48006212 +PA26716 1281 HGNC:2201 ENSG00000168542 collagen type III alpha 1 chain COL3A1 collagen, type III, alpha 1 EDS4A Yes No Comparative Toxicogenomics Database:1281, Ensembl:ENSG00000168542, GenAtlas:COL3A1, GeneCard:COL3A1, HGNC:HGNC:2201, HumanCyc Gene:HS09784, ModBase:Q6LDJ3, NCBI Gene:1281, OMIM:120180, OMIM:130020, OMIM:130050, RefSeq DNA:NG_007404, RefSeq DNA:NT_005403, RefSeq Protein:NP_000081, RefSeq RNA:NM_000090, UCSC Genome Browser:NM_000090, UniProtKB:P02461 No chr2 189839099 189877472 188974373 189012746 +PA26717 1282 HGNC:2202 ENSG00000187498 collagen type IV alpha 1 chain COL4A1 collagen, type IV, alpha 1 Yes No Comparative Toxicogenomics Database:1282, Ensembl:ENSG00000187498, GenAtlas:COL4A1, GeneCard:COL4A1, HGNC:HGNC:2202, ModBase:P02462, NCBI Gene:1282, OMIM:120130, OMIM:175780, OMIM:607595, OMIM:611773, RefSeq DNA:NG_011544, RefSeq DNA:NT_009952, RefSeq Protein:NP_001836, RefSeq RNA:NM_001845, UCSC Genome Browser:NM_001845, UniProtKB:P02462 No chr13 110801310 110959496 110148958 110307157 +PA26718 1284 HGNC:2203 ENSG00000134871 collagen type IV alpha 2 chain COL4A2 """canstatin"", ""collagen type IV alpha 2"", ""collagen, type IV, alpha 2""" DKFZp686I14213, FLJ22259 Yes No Comparative Toxicogenomics Database:1284, Ensembl:ENSG00000134871, GenAtlas:COL4A2, GeneCard:COL4A2, HGNC:HGNC:2203, HumanCyc Gene:HS05925, ModBase:P08572, NCBI Gene:1284, OMIM:120090, RefSeq DNA:NT_009952, RefSeq Protein:NP_001837, RefSeq RNA:NM_001846, UCSC Genome Browser:NM_001846, UniProtKB:P08572 No chr13 110959631 111165374 110307284 110513027 +PA26719 1285 HGNC:2204 ENSG00000169031 collagen type IV alpha 3 chain COL4A3 """collagen, type IV, alpha 3 (Goodpasture antigen)"", ""tumstatin""" Yes No Comparative Toxicogenomics Database:1285, Ensembl:ENSG00000169031, GenAtlas:COL4A3, GeneCard:COL4A3, HGNC:HGNC:2204, HumanCyc Gene:HS09868, ModBase:Q01955, NCBI Gene:1285, OMIM:120070, OMIM:141200, OMIM:203780, RefSeq DNA:NG_011591, RefSeq DNA:NT_005403, RefSeq Protein:NP_000082, RefSeq Protein:NP_112730, RefSeq Protein:NP_112733, RefSeq Protein:NP_112734, RefSeq RNA:NM_000091, RefSeq RNA:NM_031362, RefSeq RNA:NM_031365, RefSeq RNA:NM_031366, UCSC Genome Browser:NM_000091, UniProtKB:Q01955 No chr2 228029281 228179508 227164565 227314792 +PA26721 1286 HGNC:2206 ENSG00000081052 collagen type IV alpha 4 chain COL4A4 """collagen of basement membrane, alpha-4 chain"", ""collagen, type IV, alpha 4""" CA44 Yes No Comparative Toxicogenomics Database:1286, Ensembl:ENSG00000081052, GenAtlas:COL4A4, GeneCard:COL4A4, HGNC:HGNC:2206, HumanCyc Gene:HS01382, NCBI Gene:1286, OMIM:120131, OMIM:203780, RefSeq DNA:NG_011592, RefSeq DNA:NT_005403, RefSeq Protein:NP_000083, RefSeq RNA:NM_000092, UCSC Genome Browser:NM_000092, UniProtKB:P53420 No chr2 227867427 228029275 226970293 227164559 +PA26722 1287 HGNC:2207 ENSG00000188153 collagen type IV alpha 5 chain COL4A5 collagen, type IV, alpha 5 ASLN, ATS Yes No Comparative Toxicogenomics Database:1287, Ensembl:ENSG00000188153, GenAtlas:COL4A5, GeneCard:COL4A5, HGNC:HGNC:2207, ModBase:P29400, NCBI Gene:1287, OMIM:301050, OMIM:303630, RefSeq DNA:NG_011977, RefSeq DNA:NT_011651, RefSeq Protein:NP_000486, RefSeq Protein:NP_203699, RefSeq Protein:NP_203700, RefSeq RNA:NM_000495, RefSeq RNA:NM_033380, RefSeq RNA:NM_033381, UCSC Genome Browser:NM_000495, UniProtKB:P29400 No chrX 107683019 107940775 108439844 108697545 +PA26723 1288 HGNC:2208 ENSG00000197565 collagen type IV alpha 6 chain COL4A6 collagen, type IV, alpha 6 Yes No Comparative Toxicogenomics Database:1288, Ensembl:ENSG00000197565, GenAtlas:COL4A6, GeneCard:COL4A6, HGNC:HGNC:2208, HumanCyc Gene:HS05742, ModBase:Q9Y4L4, NCBI Gene:1288, OMIM:303631, OMIM:308940, RefSeq DNA:NG_012059, RefSeq DNA:NT_011651, RefSeq Protein:NP_001838, RefSeq Protein:NP_378667, RefSeq RNA:NM_001847, RefSeq RNA:NM_033641, UCSC Genome Browser:NM_001847, UniProtKB:Q14031 No chrX 107398837 107682704 108155607 108439497 +PA26724 1289 HGNC:2209 ENSG00000130635 collagen type V alpha 1 chain COL5A1 """alpha 1 type V collagen"", ""collagen, type V, alpha 1""" Yes No Comparative Toxicogenomics Database:1289, Ensembl:ENSG00000130635, GenAtlas:COL5A1, GeneCard:COL5A1, HGNC:HGNC:2209, ModBase:P20908, NCBI Gene:1289, OMIM:120215, OMIM:130000, OMIM:130010, RefSeq DNA:NG_008030, RefSeq DNA:NT_019501, RefSeq Protein:NP_000084, RefSeq RNA:NM_000093, UCSC Genome Browser:NM_000093, UniProtKB:P20908, UniProtKB:Q59EE7 No chr9 137533651 137736689 134641790 134844843 +PA134922444 414316 HGNC:31368 ENSG00000204011 COL5A1 antisense RNA 1 COL5A1-AS1 bA54A22.4 Yes No Ensembl:ENSG00000204011, GeneCard:C9orf104, HGNC:HGNC:31368, NCBI Gene:414316 No chr9 +PA26725 1290 HGNC:2210 ENSG00000204262 collagen type V alpha 2 chain COL5A2 """AB collagen"", ""collagen, type V, alpha 2""" Yes No Comparative Toxicogenomics Database:1290, Ensembl:ENSG00000204262, GenAtlas:COL5A2, GeneCard:COL5A2, HGNC:HGNC:2210, ModBase:Q96QB0, NCBI Gene:1290, OMIM:120190, OMIM:130000, RefSeq DNA:NG_011799, RefSeq DNA:NT_005403, RefSeq Protein:NP_000384, RefSeq RNA:NM_000393, UCSC Genome Browser:NM_000393, UniProtKB:P05997 No chr2 189896641 190044668 189031915 189225301 +PA26726 50509 HGNC:14864 ENSG00000080573 collagen type V alpha 3 chain COL5A3 collagen, type V, alpha 3 Yes No Comparative Toxicogenomics Database:50509, Ensembl:ENSG00000080573, GenAtlas:COL5A3, GeneCard:COL5A3, HGNC:HGNC:14864, HumanCyc Gene:HS01361, ModBase:P25940, NCBI Gene:50509, OMIM:120216, RefSeq DNA:NT_011295, RefSeq Protein:NP_056534, RefSeq RNA:NM_015719, UCSC Genome Browser:NM_015719, UniProtKB:P25940 No chr19 10070237 10121147 9959561 10010532 +PA26727 1291 HGNC:2211 ENSG00000142156 collagen type VI alpha 1 chain COL6A1 collagen, type VI, alpha 1 Yes No Comparative Toxicogenomics Database:1291, Ensembl:ENSG00000142156, GenAtlas:COL6A1, GeneCard:COL6A1, HGNC:HGNC:2211, HumanCyc Gene:HS06896, ModBase:P12109, NCBI Gene:1291, OMIM:120220, OMIM:158810, OMIM:254090, OMIM:602475, RefSeq DNA:NG_008674, RefSeq DNA:NT_011515, RefSeq Protein:NP_001839, RefSeq RNA:NM_001848, UCSC Genome Browser:NM_001848, UniProtKB:P12109 No chr21 47401663 47424963 45981749 46005049 +PA26728 1292 HGNC:2212 ENSG00000142173 collagen type VI alpha 2 chain COL6A2 collagen, type VI, alpha 2 Yes No Comparative Toxicogenomics Database:1292, Ensembl:ENSG00000142173, GenAtlas:COL6A2, GeneCard:COL6A2, HGNC:HGNC:2212, HumanCyc Gene:HS06900, ModBase:Q6P0Q1, NCBI Gene:1292, OMIM:120240, OMIM:158810, OMIM:254090, OMIM:255600, RefSeq DNA:NG_008675, RefSeq DNA:NT_011515, RefSeq Protein:NP_001840, RefSeq Protein:NP_478054, RefSeq Protein:NP_478055, RefSeq RNA:NM_001849, RefSeq RNA:NM_058174, RefSeq RNA:NM_058175, UCSC Genome Browser:NM_001849, UniProtKB:P12110 No chr21 47518033 47552763 46098071 46132849 +PA26729 1293 HGNC:2213 ENSG00000163359 collagen type VI alpha 3 chain COL6A3 collagen, type VI, alpha 3 Yes Yes Comparative Toxicogenomics Database:1293, Ensembl:ENSG00000163359, GenAtlas:COL6A3, GeneCard:COL6A3, HGNC:HGNC:2213, HumanCyc Gene:HS08836, NCBI Gene:1293, OMIM:120250, OMIM:158810, OMIM:254090, RefSeq DNA:NG_008676, RefSeq DNA:NT_005120, RefSeq Protein:NP_004360, RefSeq Protein:NP_476505, RefSeq Protein:NP_476506, RefSeq Protein:NP_476507, RefSeq Protein:NP_476508, RefSeq RNA:NM_004369, RefSeq RNA:NM_057164, RefSeq RNA:NM_057165, RefSeq RNA:NM_057166, RefSeq RNA:NM_057167, UCSC Genome Browser:NM_004369, UniProtKB:A8MT30, UniProtKB:B4E3U5, UniProtKB:B7ZMJ7, UniProtKB:B7ZW00, UniProtKB:P12111, UniProtKB:Q63HQ4, UniProtKB:Q8N4Z1 No chr2 238232655 238322850 237324012 237434822 +PA165696956 256076 HGNC:26674 ENSG00000172752 collagen type VI alpha 5 chain COL6A5 """collagen, type VI, alpha 5"", ""von Willebrand factor A domain containing 4""" COL29A1, FLJ35880, VWA4 Yes No Ensembl:ENSG00000172752, GeneCard:COL6A5, HGNC:HGNC:26674, HumanCyc Gene:HS16126, NCBI Gene:256076, OMIM:611916, RefSeq DNA:NG_021424, RefSeq DNA:NT_005612, RefSeq DNA:NT_005612.15, RefSeq Protein:NP_694996, RefSeq RNA:NM_153264, RefSeq RNA:NM_153264.5, RefSeq RNA:NR_022012, RefSeq RNA:NR_022012.1, UniProtKB:A8TX70 No chr3 130064359 130203690 130345516 130484846 +PA165697087 131873 HGNC:27023 ENSG00000206384 collagen type VI alpha 6 chain COL6A6 """Collagen alpha-6(VI) chain"", ""collagen, type VI, alpha 6""" Yes No Ensembl:ENSG00000206384, GeneCard:COL6A6, HGNC:HGNC:27023, NCBI Gene:131873, RefSeq DNA:NT_005612, RefSeq Protein:NP_001096078, RefSeq RNA:NM_001102608, UniProtKB:A6NMZ7 No chr3 130236198 130395890 130516709 130678135 +PA26730 1294 HGNC:2214 ENSG00000114270 collagen type VII alpha 1 chain COL7A1 """LC collagen"", ""collagen VII, alpha-1 polypeptide"", ""collagen, type VII, alpha 1""" EBD1, EBDCT, EBR1 Yes No Comparative Toxicogenomics Database:1294, Ensembl:ENSG00000114270, GenAtlas:COL7A1, GeneCard:COL7A1, HGNC:HGNC:2214, HumanCyc Gene:HS03751, ModBase:Q02388, NCBI Gene:1294, OMIM:120120, OMIM:131705, OMIM:131750, OMIM:131850, OMIM:132000, OMIM:226600, OMIM:604129, OMIM:607523, RefSeq DNA:NG_007065, RefSeq DNA:NT_022517, RefSeq Protein:NP_000085, RefSeq RNA:NM_000094, UCSC Genome Browser:NM_000094, UniProtKB:Q02388, UniProtKB:Q59F16 No chr3 48601506 48632593 48564073 48595302 +PA26731 1295 HGNC:2215 ENSG00000144810 collagen type VIII alpha 1 chain COL8A1 collagen, type VIII, alpha 1 C3orf7, MGC9568 Yes No Comparative Toxicogenomics Database:1295, Ensembl:ENSG00000144810, GenAtlas:COL8A1, GeneCard:COL8A1, HGNC:HGNC:2215, HumanCyc Gene:HS07205, ModBase:P27658, NCBI Gene:1295, OMIM:120251, RefSeq DNA:NT_005612, RefSeq Protein:NP_001841, RefSeq Protein:NP_065084, RefSeq RNA:NM_001850, RefSeq RNA:NM_020351, UCSC Genome Browser:NM_001850, UniProtKB:P27658 No chr3 99357440 99518061 99638596 99796733 +PA26732 1296 HGNC:2216 ENSG00000171812 collagen type VIII alpha 2 chain COL8A2 collagen, type VIII, alpha 2 FECD, FECD1, PPCD, PPCD2 Yes No Comparative Toxicogenomics Database:1296, Ensembl:ENSG00000171812, GenAtlas:COL8A2, GeneCard:COL8A2, HGNC:HGNC:2216, HumanCyc Gene:HS10386, ModBase:P25067, NCBI Gene:1296, OMIM:120252, OMIM:122000, OMIM:136800, OMIM:609140, RefSeq DNA:NG_016245, RefSeq DNA:NT_032977, RefSeq Protein:NP_005193, RefSeq RNA:NM_005202, UCSC Genome Browser:NM_005202, UniProtKB:P25067 No chr1 36560840 36591305 36095236 36126207 +PA26733 1297 HGNC:2217 ENSG00000112280 collagen type IX alpha 1 chain COL9A1 collagen, type IX, alpha 1 Yes No Comparative Toxicogenomics Database:1297, Ensembl:ENSG00000112280, GenAtlas:COL9A1, GeneCard:COL9A1, HGNC:HGNC:2217, HumanCyc Gene:HS03546, ModBase:Q9H152, NCBI Gene:1297, OMIM:120210, RefSeq DNA:NG_011654, RefSeq DNA:NT_007299, RefSeq Protein:NP_001842, RefSeq Protein:NP_511040, RefSeq RNA:NM_001851, RefSeq RNA:NM_078485, UCSC Genome Browser:NM_001851, UniProtKB:A6NFA2, UniProtKB:P20849 No chr6 70925743 71012786 70216040 70303083 +PA26734 1298 HGNC:2218 ENSG00000049089 collagen type IX alpha 2 chain COL9A2 collagen, type IX, alpha 2 EDM2, MED Yes No Comparative Toxicogenomics Database:1298, Ensembl:ENSG00000049089, GenAtlas:COL9A2, GeneCard:COL9A2, HGNC:HGNC:2218, HumanCyc Gene:HS00610, ModBase:Q14055, NCBI Gene:1298, OMIM:120260, OMIM:600204, OMIM:603932, RefSeq DNA:NG_008031, RefSeq DNA:NT_032977, RefSeq Protein:NP_001843, RefSeq RNA:NM_001852, UCSC Genome Browser:NM_001852, UniProtKB:Q14055 No chr1 40766162 40782939 40300487 40317653 +PA26735 1299 HGNC:2219 ENSG00000092758 collagen type IX alpha 3 chain COL9A3 """collagen type IX proteoglycan"", ""collagen, type IX, alpha 3""" DJ885L7.4.1, EDM3, FLJ90759, IDD, MED Yes No Comparative Toxicogenomics Database:1299, Ensembl:ENSG00000092758, GenAtlas:COL9A3, GeneCard:COL9A3, HGNC:HGNC:2219, HumanCyc Gene:HS01777, ModBase:Q14050, NCBI Gene:1299, OMIM:120270, OMIM:600969, OMIM:603932, RefSeq DNA:NG_016353, RefSeq DNA:NT_011333, RefSeq Protein:NP_001844, RefSeq RNA:NM_001853, UCSC Genome Browser:NM_001853, UniProtKB:Q14050 No chr20 61448414 61472511 62817062 62841159 +PA26736 10584 HGNC:2220 ENSG00000184374 collectin subfamily member 10 COLEC10 collectin sub-family member 10 (C-type lectin) CL-10, CL-L1 Yes Yes Comparative Toxicogenomics Database:10584, Ensembl:ENSG00000184374, GenAtlas:COLEC10, GeneCard:COLEC10, HGNC:HGNC:2220, ModBase:Q9Y6Z7, NCBI Gene:10584, OMIM:607620, RefSeq DNA:NT_008046, RefSeq Protein:NP_006429, RefSeq RNA:NM_006438, UCSC Genome Browser:NM_006438, UniProtKB:Q9Y6Z7 No chr8 119964527 120119207 118952167 119108455 +PA26737 78989 HGNC:17213 ENSG00000118004 collectin subfamily member 11 COLEC11 Collectin K1, collectin sub-family member 11 CL-11, CL-K1, MGC3279 Yes No Comparative Toxicogenomics Database:78989, Ensembl:ENSG00000118004, GenAtlas:COLEC11, GeneCard:COLEC11, HGNC:HGNC:17213, HumanCyc Gene:HS04184, ModBase:B2R9M5, NCBI Gene:78989, OMIM:612502, RefSeq DNA:NT_022139, RefSeq Protein:NP_076932, RefSeq Protein:NP_954705, RefSeq RNA:NM_024027, RefSeq RNA:NM_199235, UCSC Genome Browser:NM_024027, UniProtKB:Q9BWP8 No chr2 3642422 3692234 3594832 3644644 +PA26738 81035 HGNC:16016 ENSG00000158270 collectin subfamily member 12 COLEC12 collectin sub-family member 12 CL-P1, SCARA4, SRCL Yes No Comparative Toxicogenomics Database:81035, Ensembl:ENSG00000158270, GenAtlas:COLEC12, GeneCard:COLEC12, HGNC:HGNC:16016, HumanCyc Gene:HS08277, ModBase:Q5KU26, NCBI Gene:81035, OMIM:607621, RefSeq DNA:NT_010859, RefSeq Protein:NP_569057, RefSeq RNA:NM_130386, UCSC Genome Browser:NM_030781, UniProtKB:Q5KU26 No chr18 319355 500729 319355 500729 +PA134991138 79709 HGNC:26182 ENSG00000130309 collagen beta(1-O)galactosyltransferase 1 COLGALT1 Hydroxylysine galactosyltransferase, Procollagen galactosyltransferase FLJ22329, GLT25D1 Yes No Comparative Toxicogenomics Database:79709, Ensembl:ENSG00000130309, GeneCard:GLT25D1, HGNC:HGNC:26182, ModBase:Q8NBJ5, NCBI Gene:79709, RefSeq DNA:NT_011295, RefSeq Protein:NP_078932, RefSeq RNA:NM_024656, UniProtKB:Q8NBJ5 No chr19 17666511 17693968 17555594 17583162 +PA25606 23127 HGNC:16790 ENSG00000198756 collagen beta(1-O)galactosyltransferase 2 COLGALT2 Procollagen galactosyltransferase C1orf17, GLT25D2, KIAA0584 Yes No Ensembl:ENSG00000198756, GenAtlas:GLT25D2, GeneCard:GLT25D2, HGNC:HGNC:16790, ModBase:Q8IYK4, NCBI Gene:23127, RefSeq DNA:NT_004487, RefSeq Protein:NP_055916, RefSeq RNA:NM_015101, UCSC Genome Browser:NM_015101, UniProtKB:Q8IYK4 No chr1 183898988 184006904 183929662 184051612 +PA166352428 HGNC:2225 collagen (type VI, alpha 1), overlapping transcript 1 COLOT1 KGC1 Yes No HGNC:HGNC:2225 No 0 0 0 0 +PA26743 8292 HGNC:2226 ENSG00000206561 collagen like tail subunit of asymmetric acetylcholinesterase COLQ AChE Q subunit, acetylcholinesterase-associated collagen, collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase, collagenic tail of endplate acetylcholinesterase, single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase EAD Yes No Comparative Toxicogenomics Database:8292, Ensembl:ENSG00000206561, GenAtlas:COLQ, GeneCard:COLQ, HGNC:HGNC:2226, ModBase:Q9NP20, NCBI Gene:8292, OMIM:603033, OMIM:603034, RefSeq DNA:NG_009032, RefSeq DNA:NT_022517, RefSeq Protein:NP_005668, RefSeq Protein:NP_536799, RefSeq Protein:NP_536800, RefSeq Protein:NP_536802, RefSeq RNA:NM_005677, RefSeq RNA:NM_080538, RefSeq RNA:NM_080539, RefSeq RNA:NM_080541, UCSC Genome Browser:NM_005677, UniProtKB:Q9Y215 No chr3 15491640 15563277 15450133 15521751 +PA134891368 150684 HGNC:23024 ENSG00000173163 copper metabolism domain containing 1 COMMD1 COMM domain containing 1, copper metabolism (Murr1) domain containing 1, copper metabolism gene MURR1 C2orf5, MGC27155, MURR1 Yes No Comparative Toxicogenomics Database:150684, Ensembl:ENSG00000173163, GeneCard:COMMD1, HGNC:HGNC:23024, HumanCyc Gene:HS16179, NCBI Gene:150684, OMIM:607238, RefSeq DNA:NT_022184, RefSeq Protein:NP_689729, RefSeq RNA:NM_152516, UniProtKB:Q8N668 No chr2 62115904 62363205 61888723 62136070 +PA134862606 51397 HGNC:30201 ENSG00000145781 COMM domain containing 10 COMMD10 PTD002 Yes No Ensembl:ENSG00000145781, GeneCard:COMMD10, HGNC:HGNC:30201, HumanCyc Gene:HS14109, ModBase:Q9Y6G5, NCBI Gene:51397, RefSeq DNA:NT_034772, RefSeq Protein:NP_057228, RefSeq RNA:NM_016144, UniProtKB:Q9Y6G5 No chr5 115420727 115628978 116084592 116446462 +PA134923363 51122 HGNC:24993 ENSG00000114744 COMM domain containing 2 COMMD2 HSPC042 Yes No Ensembl:ENSG00000114744, GeneCard:COMMD2, HGNC:HGNC:24993, HumanCyc Gene:HS12825, ModBase:Q86X83, NCBI Gene:51122, RefSeq DNA:NT_005612, RefSeq Protein:NP_057178, RefSeq RNA:NM_016094, UniProtKB:Q86X83 No chr3 149456257 149470287 149737160 149752507 +PA134864927 23412 HGNC:23332 ENSG00000148444 COMM domain containing 3 COMMD3 BUP, C10orf8 Yes No Comparative Toxicogenomics Database:23412, Ensembl:ENSG00000148444, GeneCard:COMMD3, HGNC:HGNC:23332, HumanCyc Gene:HS14244, ModBase:Q9UBI1, NCBI Gene:23412, RefSeq DNA:NT_008705, RefSeq Protein:NP_036203, RefSeq RNA:NM_012071, UniProtKB:Q9UBI1 No chr10 22605312 22609246 22316383 22320317 +PA134993083 54939 HGNC:26027 ENSG00000140365 COMM domain containing 4 COMMD4 FLJ20452 Yes No Ensembl:ENSG00000140365, GeneCard:COMMD4, HGNC:HGNC:26027, HumanCyc Gene:HS13827, ModBase:Q9H0A8, NCBI Gene:54939, RefSeq DNA:NT_010194, RefSeq Protein:NP_060298, RefSeq RNA:NM_017828, UniProtKB:Q9H0A8 No chr15 75628352 75634268 75335996 75341927 +PA134873412 28991 HGNC:17902 ENSG00000170619 COMM domain containing 5 COMMD5 FLJ13008, HCaRG, HT002 Yes No Comparative Toxicogenomics Database:28991, Ensembl:ENSG00000170619, GeneCard:COMMD5, HGNC:HGNC:17902, HumanCyc Gene:HS15902, ModBase:Q9GZQ3, NCBI Gene:28991, OMIM:608216, RefSeq DNA:NT_037704, RefSeq Protein:NP_001074472, RefSeq Protein:NP_001074473, RefSeq Protein:NP_054785, RefSeq RNA:NM_001081003, RefSeq RNA:NM_001081004, RefSeq RNA:NM_014066, UniProtKB:Q9GZQ3 No chr8 146075551 146078932 144837978 144853578 +PA134906013 170622 HGNC:24015 ENSG00000188243 COMM domain containing 6 COMMD6 Acrg Yes No Comparative Toxicogenomics Database:170622, Ensembl:ENSG00000188243, GeneCard:COMMD6, HGNC:HGNC:24015, NCBI Gene:170622, OMIM:612377, RefSeq DNA:NT_024524, RefSeq Protein:NP_987091, RefSeq Protein:NP_987093, RefSeq RNA:NM_203495, RefSeq RNA:NM_203497, UniProtKB:Q7Z4G1 No chr13 76099350 76111991 75525214 75549439 +PA25799 149951 HGNC:16223 ENSG00000149600 COMM domain containing 7 COMMD7 C20orf92, dJ1085F17.3 Yes No Ensembl:ENSG00000149600, GenAtlas:COMMD7, GeneCard:COMMD7, HGNC:HGNC:16223, HumanCyc Gene:HS14295, ModBase:Q86VX2, NCBI Gene:149951, RefSeq DNA:NT_011362, RefSeq Protein:NP_001092809, RefSeq Protein:NP_444269, RefSeq RNA:NM_001099339, RefSeq RNA:NM_053041, UCSC Genome Browser:NM_053041, UniProtKB:Q86VX2 No chr20 31290493 31331814 32702691 32744008 +PA134876825 54951 HGNC:26036 ENSG00000169019 COMM domain containing 8 COMMD8 FLJ20502 Yes No Ensembl:ENSG00000169019, GeneCard:COMMD8, HGNC:HGNC:26036, HumanCyc Gene:HS15740, NCBI Gene:54951, RefSeq DNA:NT_006238, RefSeq Protein:NP_060315, RefSeq RNA:NM_017845, UniProtKB:Q9NX08 No chr4 47452815 47465676 47450793 47463702 +PA134930445 29099 HGNC:25014 ENSG00000110442 COMM domain containing 9 COMMD9 FLJ31106, HSPC166, LINC00610 Yes No Ensembl:ENSG00000110442, GeneCard:COMMD9, HGNC:HGNC:25014, HumanCyc Gene:HS12724, ModBase:Q9P000, NCBI Gene:29099, OMIM:612299, RefSeq DNA:NT_009237, RefSeq Protein:NP_001095123, RefSeq Protein:NP_054905, RefSeq RNA:NM_001101653, RefSeq RNA:NM_014186, UniProtKB:Q53FR9, UniProtKB:Q9P000 No chr11 36293842 36310999 36272292 36289449 +PA26744 1311 HGNC:2227 ENSG00000105664 cartilage oligomeric matrix protein COMP multiple epiphyseal dysplasia, thrombospondin-5 EDM1, EPD1, MED, PSACH, THBS5, TSP-5, TSP5 Yes No Comparative Toxicogenomics Database:1311, Ensembl:ENSG00000105664, GenAtlas:COMP, GeneCard:COMP, HGNC:HGNC:2227, HumanCyc Gene:HS02785, ModBase:P49747, NCBI Gene:1311, OMIM:132400, OMIM:177170, OMIM:600310, RefSeq DNA:NG_007070, RefSeq DNA:NT_011295, RefSeq Protein:NP_000086, RefSeq RNA:NM_000095, UCSC Genome Browser:NM_000095, UniProtKB:P49747 No chr19 18893583 18902114 18782773 18791305 +PA117 1312 HGNC:2228 ENSG00000093010 catechol-O-methyltransferase COMT Yes Yes Comparative Toxicogenomics Database:1312, Ensembl:ENSG00000093010, GenAtlas:COMT, GeneCard:COMT, HGNC:HGNC:2228, HumanCyc Gene:HS01791, ModBase:P21964, NCBI Gene:1312, OMIM:116790, OMIM:167870, OMIM:181500, RefSeq DNA:NG_011526, RefSeq DNA:NT_011519, RefSeq Protein:NP_000745, RefSeq Protein:NP_001128633, RefSeq Protein:NP_001128634, RefSeq Protein:NP_009294, RefSeq RNA:NM_000754, RefSeq RNA:NM_001135161, RefSeq RNA:NM_001135162, RefSeq RNA:NM_007310, UCSC Genome Browser:NM_000754, UniProtKB:P21964 Yes chr22 19929263 19957498 19941740 19969975 +PA134961676 118881 HGNC:26309 ENSG00000165644 catechol-O-methyltransferase domain containing 1 COMTD1 FLJ23841 Yes No Ensembl:ENSG00000165644, GeneCard:COMTD1, HGNC:HGNC:26309, HumanCyc Gene:HS09260, ModBase:Q86VU5, NCBI Gene:118881, RefSeq DNA:NT_030059, RefSeq Protein:NP_653190, RefSeq RNA:NM_144589, UniProtKB:Q86VU5 No chr10 76992760 76995802 75233971 75236012 +PA134952161 64326 HGNC:17440 ENSG00000143207 COP1 E3 ubiquitin ligase COP1 """COP1, E3 ubiquitin ligase"", ""constitutive photomorphogenic protein 1 (Arabidopsis)"", ""ring finger and WD repeat domain 2, E3 ubiquitin protein ligase""" CFAP78, COP1, FAP78, FLJ10416, RFWD2, RNF200 Yes No Ensembl:ENSG00000143207, GeneCard:RFWD2, HGNC:HGNC:17440, HumanCyc Gene:HS13954, ModBase:Q8NHY2, NCBI Gene:64326, OMIM:608067, RefSeq DNA:NT_004487, RefSeq Protein:NP_001001740, RefSeq Protein:NP_071902, RefSeq RNA:NM_001001740, RefSeq RNA:NM_022457, UniProtKB:Q05CT6, UniProtKB:Q504W6, UniProtKB:Q8NHY2 No chr1 175913967 176176386 175944826 176207279 +PA26746 1314 HGNC:2230 ENSG00000122218 COPI coat complex subunit alpha COPA """coatomer protein complex subunit alpha"", ""coatomer protein complex, subunit alpha"", ""proxenin"", ""xenin""" HEP-COP Yes No Comparative Toxicogenomics Database:1314, Ensembl:ENSG00000122218, GenAtlas:COPA, GeneCard:COPA, HGNC:HGNC:2230, HumanCyc Gene:HS04554, ModBase:P53621, NCBI Gene:1314, OMIM:601924, RefSeq DNA:NT_004487, RefSeq Protein:NP_001091868, RefSeq Protein:NP_004362, RefSeq RNA:NM_001098398, RefSeq RNA:NM_004371, UCSC Genome Browser:NM_004371, UniProtKB:P53621 No chr1 160258377 160313354 160288587 160343564 +PA26747 1315 HGNC:2231 ENSG00000129083 COPI coat complex subunit beta 1 COPB1 """coatomer protein complex subunit beta 1"", ""coatomer protein complex, subunit beta 1""" COPB Yes No Comparative Toxicogenomics Database:1315, Ensembl:ENSG00000129083, GenAtlas:COPB1, GeneCard:COPB1, HGNC:HGNC:2231, HumanCyc Gene:HS05242, ModBase:P53618, NCBI Gene:1315, OMIM:600959, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137533, RefSeq Protein:NP_001137534, RefSeq Protein:NP_057535, RefSeq RNA:NM_001144061, RefSeq RNA:NM_001144062, RefSeq RNA:NM_016451, UCSC Genome Browser:NM_016451, UniProtKB:P53618 No chr11 14479049 14521441 14457503 14499895 +PA26748 9276 HGNC:2232 ENSG00000184432 COPI coat complex subunit beta 2 COPB2 """coatomer protein complex subunit beta 2"", ""coatomer protein complex subunit beta prime"", ""coatomer protein complex, subunit beta 2 (beta prime)""" beta'-COP, betaprime-COP Yes No Comparative Toxicogenomics Database:9276, Ensembl:ENSG00000184432, GenAtlas:COPB2, GeneCard:COPB2, HGNC:HGNC:2232, ModBase:P35606, NCBI Gene:9276, OMIM:606990, RefSeq DNA:NT_005612, RefSeq Protein:NP_004757, RefSeq RNA:NM_004766, RefSeq RNA:NR_023350, UCSC Genome Browser:NM_004766, UniProtKB:P35606 No chr3 139076433 139108522 139355595 139389680 +PA26750 11316 HGNC:2234 ENSG00000105669 COPI coat complex subunit epsilon COPE """coatomer protein complex subunit epsilon"", ""coatomer protein complex, subunit epsilon""" epsilon-COP Yes No Comparative Toxicogenomics Database:11316, Ensembl:ENSG00000105669, GenAtlas:COPE, GeneCard:COPE, HGNC:HGNC:2234, HumanCyc Gene:HS02787, ModBase:O14579, NCBI Gene:11316, OMIM:606942, RefSeq DNA:NT_011295, RefSeq Protein:NP_009194, RefSeq Protein:NP_955474, RefSeq Protein:NP_955476, RefSeq RNA:NM_007263, RefSeq RNA:NM_199442, RefSeq RNA:NM_199444, UCSC Genome Browser:NM_007263, UniProtKB:A6NE29, UniProtKB:A6NKA3, UniProtKB:O14579 No chr19 19010323 19030199 18899514 18919464 +PA26752 22820 HGNC:2236 ENSG00000181789 COPI coat complex subunit gamma 1 COPG1 """coat protein gamma-cop"", ""coatomer protein complex subunit gamma 1"", ""coatomer protein complex, subunit gamma 1""" COPG Yes No Comparative Toxicogenomics Database:22820, Ensembl:ENSG00000181789, GenAtlas:COPG, GeneCard:COPG, HGNC:HGNC:2236, HumanCyc Gene:HS11663, ModBase:Q9Y678, NCBI Gene:22820, RefSeq DNA:NT_005612, RefSeq Protein:NP_057212, RefSeq RNA:NM_016128, UCSC Genome Browser:NM_016128, UniProtKB:Q54AC4, UniProtKB:Q9Y678 No chr3 128968453 128996616 129249575 129277773 +PA26753 26958 HGNC:2237 ENSG00000158623 COPI coat complex subunit gamma 2 COPG2 """coat protein, nonclathrin, gamma-2-cop"", ""coatomer protein complex subunit gamma 2"", ""coatomer protein complex, subunit gamma 2""" 2-COP Yes No Comparative Toxicogenomics Database:26958, Ensembl:ENSG00000158623, GenAtlas:COPG2, GeneCard:COPG2, HGNC:HGNC:2237, ModBase:Q9UBF2, NCBI Gene:26958, OMIM:604355, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_036265, RefSeq RNA:NM_012133, UCSC Genome Browser:NM_012133, UniProtKB:Q9UBF2 No chr7 130146079 130353598 130506238 130668758 +PA26754 53844 HGNC:2238 ENSG00000286214 COPG2 imprinted transcript 1 (non-protein coding) COPG2IT1 COPG2 antisense RNA (non-protein coding), Copg2 intronic transcript 1, non-protein coding RNA 170 CIT1, COPG2AS, NCRNA00170 Yes No Ensembl:ENSG00000286214, GenAtlas:COPG2IT1, GeneCard:COPG2IT1, HGNC:HGNC:2238, NCBI Gene:53844, OMIM:610581, RefSeq DNA:NT_079596, RefSeq RNA:NR_024086 No chr7 222680 226122 130543453 130546900 +PA143485403 55352 HGNC:28848 ENSG00000172301 coordinator of PRMT5 and differentiation stimulator COPRS """cooperator of PRMT5"", ""coordinator of PRMT5, differentiation stimulator""" C17orf79, COPR5, HSA272196, TTP1 Yes No Ensembl:ENSG00000172301, GeneCard:C17orf79, HGNC:HGNC:28848, HumanCyc Gene:HS10485, NCBI Gene:55352, RefSeq DNA:NT_010799, RefSeq Protein:NP_060875, RefSeq RNA:NM_018405, UniProtKB:Q9NQ92 No chr17 30178884 30186326 31851865 31859307 +PA134952445 9318 HGNC:30747 ENSG00000166200 COP9 signalosome subunit 2 COPS2 ALIEN, CSN2, TRIP15 Yes No Ensembl:ENSG00000166200, GeneCard:COPS2, HGNC:HGNC:30747, HumanCyc Gene:HS09354, ModBase:P61201, NCBI Gene:9318, OMIM:604508, RefSeq DNA:NT_010194, RefSeq Protein:NP_001137359, RefSeq Protein:NP_004227, RefSeq RNA:NM_001143887, RefSeq RNA:NM_004236, UniProtKB:P61201, UniProtKB:Q59EL2 No chr15 49417471 49447854 49125274 49155657 +PA26755 8533 HGNC:2239 ENSG00000141030 COP9 signalosome subunit 3 COPS3 CSN3, SGN3 Yes No Comparative Toxicogenomics Database:8533, Ensembl:ENSG00000141030, GenAtlas:COPS3, GeneCard:COPS3, HGNC:HGNC:2239, HumanCyc Gene:HS06793, ModBase:Q9UNS2, NCBI Gene:8533, OMIM:604665, RefSeq DNA:NT_010718, RefSeq Protein:NP_001186054, RefSeq Protein:NP_003644, RefSeq RNA:NM_001199125, RefSeq RNA:NM_003653, UCSC Genome Browser:NM_003653, UniProtKB:Q9UNS2 No chr17 17149938 17184617 17246624 17281303 +PA26756 51138 HGNC:16702 ENSG00000138663 COP9 signalosome subunit 4 COPS4 CSN4, SGN4 Yes No Comparative Toxicogenomics Database:51138, Ensembl:ENSG00000138663, GenAtlas:COPS4, GeneCard:COPS4, HGNC:HGNC:16702, HumanCyc Gene:HS13740, ModBase:Q9BT78, NCBI Gene:51138, RefSeq DNA:NT_016354, RefSeq Protein:NP_057213, RefSeq RNA:NM_016129, UCSC Genome Browser:NM_016129, UniProtKB:B3KM48, UniProtKB:Q9BT78 No chr4 83956239 83996971 83035086 83075818 +PA26757 10987 HGNC:2240 ENSG00000121022 COP9 signalosome subunit 5 COPS5 CSN5, JAB1, MOV-34, SGN5 Yes No Comparative Toxicogenomics Database:10987, Ensembl:ENSG00000121022, GenAtlas:COPS5, GeneCard:COPS5, HGNC:HGNC:2240, HumanCyc Gene:HS04460, ModBase:Q92905, NCBI Gene:10987, OMIM:604850, RefSeq DNA:NT_008183, RefSeq Protein:NP_006828, RefSeq RNA:NM_006837, UCSC Genome Browser:NM_006837, UniProtKB:Q92905 No chr8 67955314 67974562 67043079 67062327 +PA134919933 10980 HGNC:21749 ENSG00000168090 COP9 signalosome subunit 6 COPS6 COP9 subunit 6 (MOV34 homolog, 34 kD) CSN6, MOV34-34KD Yes No Ensembl:ENSG00000168090, GeneCard:COPS6, HGNC:HGNC:21749, HumanCyc Gene:HS15635, ModBase:Q7L5N1, NCBI Gene:10980, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_006824, RefSeq RNA:NM_006833, UniProtKB:Q7L5N1 No chr7 99686583 99689823 100088960 100092200 +PA26758 50813 HGNC:16758 ENSG00000111652 COP9 signalosome subunit 7A COPS7A CSN7A Yes No Comparative Toxicogenomics Database:50813, Ensembl:ENSG00000111652, GenAtlas:COPS7A, GeneCard:COPS7A, HGNC:HGNC:16758, HumanCyc Gene:HS12744, ModBase:Q9UBW8, NCBI Gene:50813, RefSeq DNA:NT_009759, RefSeq Protein:NP_001157565, RefSeq Protein:NP_001157566, RefSeq Protein:NP_001157567, RefSeq Protein:NP_057403, RefSeq RNA:NM_001164093, RefSeq RNA:NM_001164094, RefSeq RNA:NM_001164095, RefSeq RNA:NM_016319, UCSC Genome Browser:NM_016319, UniProtKB:A8K9A6, UniProtKB:Q9UBW8 No chr12 6833150 6841041 6723984 6731875 +PA26759 64708 HGNC:16760 ENSG00000144524 COP9 signalosome subunit 7B COPS7B CSN7B Yes No Comparative Toxicogenomics Database:64708, Ensembl:ENSG00000144524, GenAtlas:COPS7B, GeneCard:COPS7B, HGNC:HGNC:16760, HumanCyc Gene:HS14031, ModBase:Q9H9Q2, NCBI Gene:64708, RefSeq DNA:NT_005403, RefSeq Protein:NP_073567, RefSeq RNA:NM_022730, UCSC Genome Browser:NM_022730, UniProtKB:Q9H9Q2 No chr2 232646388 232673958 231781671 231809253 +PA134968686 10920 HGNC:24335 ENSG00000198612 COP9 signalosome subunit 8 COPS8 COP9, CSN8, MGC1297, SGN8 Yes No Ensembl:ENSG00000198612, GeneCard:COPS8, HGNC:HGNC:24335, ModBase:Q99627, NCBI Gene:10920, RefSeq DNA:NT_005120, RefSeq Protein:NP_006701, RefSeq Protein:NP_937832, RefSeq RNA:NM_006710, RefSeq RNA:NM_198189, UniProtKB:A8K1H6, UniProtKB:Q53QS9, UniProtKB:Q99627 No chr2 237993870 238007489 237085441 237098846 +PA142671302 150678 HGNC:21314 ENSG00000172428 COP9 signalosome subunit 9 COPS9 CSN acidic protein, myeloma overexpressed 2 CSNAP, MYEOV2 Yes No Ensembl:ENSG00000172428, GeneCard:MYEOV2, HGNC:HGNC:21314, HumanCyc Gene:HS16087, NCBI Gene:150678, RefSeq DNA:NT_005416, RefSeq Protein:NP_001156896, RefSeq Protein:NP_612209, RefSeq RNA:NM_001163424, RefSeq RNA:NM_138336, UniProtKB:Q8WXC6 No chr2 241065980 241075764 240126548 240136802 +PA26760 22818 HGNC:2243 ENSG00000111481 COPI coat complex subunit zeta 1 COPZ1 """coatomer protein complex subunit zeta 1"", ""coatomer protein complex, subunit zeta 1""" CGI-120, COPZ Yes No Ensembl:ENSG00000111481, GeneCard:COPZ1, HGNC:HGNC:2243, ModBase:P61923, NCBI Gene:22818, RefSeq DNA:NT_029419, RefSeq Protein:NP_057141, RefSeq RNA:NM_016057, UCSC Genome Browser:NM_016057, UniProtKB:P61923 No chr12 54718874 54745635 54325090 54351851 +PA134862698 51226 HGNC:19356 ENSG00000005243 COPI coat complex subunit zeta 2 COPZ2 """coatomer protein complex subunit zeta 2"", ""coatomer protein complex, subunit zeta 2"", ""nonclathrin coat protein zeta-COP"", ""zeta-2 coat protein"", ""zeta2-COP""" MGC23008 Yes No Comparative Toxicogenomics Database:51226, Ensembl:ENSG00000005243, GeneCard:COPZ2, HGNC:HGNC:19356, HumanCyc Gene:HS00135, ModBase:Q9P299, NCBI Gene:51226, RefSeq DNA:NT_010783, RefSeq Protein:NP_057513, RefSeq RNA:NM_016429, UniProtKB:Q9P299 No chr17 46103533 46120908 48026167 48048091 +PA143485439 93058 HGNC:26515 ENSG00000135469 coenzyme Q10A COQ10A coenzyme Q10 homolog A (S. cerevisiae) FLJ32452 Yes No Ensembl:ENSG00000135469, GeneCard:COQ10A, HGNC:HGNC:26515, HumanCyc Gene:HS06013, ModBase:Q96MF6, NCBI Gene:93058, RefSeq DNA:NT_029419, RefSeq Protein:NP_001092807, RefSeq Protein:NP_653177, RefSeq RNA:NM_001099337, RefSeq RNA:NM_144576, UniProtKB:Q8TAL2, UniProtKB:Q96MF6 No chr12 56660642 56664750 56266858 56270966 +PA143485440 80219 HGNC:25819 ENSG00000115520 coenzyme Q10B COQ10B coenzyme Q10 homolog B (S. cerevisiae) FLJ13448 Yes No Comparative Toxicogenomics Database:80219, Ensembl:ENSG00000115520, GeneCard:COQ10B, HGNC:HGNC:25819, HumanCyc Gene:HS03901, ModBase:Q9H8M1, NCBI Gene:80219, RefSeq DNA:NT_005403, RefSeq Protein:NP_079423, RefSeq RNA:NM_025147, UniProtKB:Q9H8M1 No chr2 198318231 198339851 197453423 197475309 +PA142672084 27235 HGNC:25223 ENSG00000173085 coenzyme Q2, polyprenyltransferase COQ2 """4-hydroxybenzoate polyprenyltransferase"", ""coenzyme Q2 4-hydroxybenzoate polyprenyltransferase"", ""coenzyme Q2 homolog, prenyltransferase (yeast)""" CL640, FLJ26072 Yes Yes Comparative Toxicogenomics Database:27235, Ensembl:ENSG00000173085, GeneCard:COQ2, HGNC:HGNC:25223, HumanCyc Gene:HS10617, NCBI Gene:27235, OMIM:607426, OMIM:609825, RefSeq DNA:NG_015825, RefSeq DNA:NT_016354, RefSeq Protein:NP_056512, RefSeq RNA:NM_015697, UniProtKB:Q96H96 No chr4 84184972 84206067 83138568 83285129 +PA134934287 51805 HGNC:18175 ENSG00000132423 coenzyme Q3, methyltransferase COQ3 coenzyme Q3 methyltransferase, polyprenyldihydroxybenzoate methyltransferase bA9819.1 Yes Yes Comparative Toxicogenomics Database:51805, Ensembl:ENSG00000132423, GeneCard:COQ3, HGNC:HGNC:18175, HumanCyc Gene:HS05632, ModBase:Q9NZJ6, NCBI Gene:51805, OMIM:605196, RefSeq DNA:NT_025741, RefSeq Protein:NP_059117, RefSeq RNA:NM_017421, UniProtKB:Q9NZJ6 No chr6 99817279 99842082 99369401 99394223 +PA134957951 51117 HGNC:19693 ENSG00000167113 coenzyme Q4 COQ4 coenzyme Q4 homolog (S. cerevisiae) CGI-92 Yes No Ensembl:ENSG00000167113, GeneCard:COQ4, HGNC:HGNC:19693, HumanCyc Gene:HS09514, NCBI Gene:51117, OMIM:612898, RefSeq DNA:NT_008470, RefSeq Protein:NP_057119, RefSeq RNA:NM_016035, UniProtKB:Q9Y3A0 No chr9 131084791 131096351 128322486 128334072 +PA143485438 84274 HGNC:28722 ENSG00000110871 coenzyme Q5, methyltransferase COQ5 """2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"", ""coenzyme Q5 homolog, methyltransferase (S. cerevisiae)""" MGC4767 Yes Yes Comparative Toxicogenomics Database:84274, Ensembl:ENSG00000110871, GeneCard:COQ5, HGNC:HGNC:28722, HumanCyc Gene:HS03347, ModBase:Q5HYK3, NCBI Gene:84274, RefSeq DNA:NT_009775, RefSeq Protein:NP_115690, RefSeq RNA:NM_032314, UniProtKB:Q5HYK3 No chr12 120941082 120966964 120503279 120529171 +PA134940980 51004 HGNC:20233 ENSG00000119723 coenzyme Q6, monooxygenase COQ6 coenzyme Q6 monooxygenase CGI-10 Yes No Comparative Toxicogenomics Database:51004, Ensembl:ENSG00000119723, GeneCard:COQ6, HGNC:HGNC:20233, HumanCyc Gene:HS04333, ModBase:Q9Y2Z9, NCBI Gene:51004, RefSeq DNA:NT_026437, RefSeq Protein:NP_872282, RefSeq Protein:NP_872286, RefSeq RNA:NM_182476, RefSeq RNA:NM_182480, UniProtKB:Q86U30, UniProtKB:Q9Y2Z9 No chr14 74416637 74429815 73949934 73963112 +PA26761 10229 HGNC:2244 ENSG00000167186 coenzyme Q7, hydroxylase COQ7 """5-demethoxyubiquinone hydroxylase"", ""coenzyme Q7 homolog, ubiquinone (yeast)""" CAT5, CLK-1 Yes No Ensembl:ENSG00000167186, GenAtlas:COQ7, GeneCard:COQ7, HGNC:HGNC:2244, HumanCyc Gene:HS09521, ModBase:Q99807, NCBI Gene:10229, OMIM:601683, RefSeq DNA:NT_010393, RefSeq Protein:NP_001177912, RefSeq Protein:NP_057222, RefSeq RNA:NM_001190983, RefSeq RNA:NM_016138, UCSC Genome Browser:NM_016138, UniProtKB:Q99807 No chr16 19078917 19091417 19067595 19083097 +PA25999 56997 HGNC:16812 ENSG00000163050 coenzyme Q8A COQ8A aarF domain containing kinase 3, coenzyme Q8 homolog (yeast) ADCK3, CABC1, COQ8, SCAR9 Yes No Comparative Toxicogenomics Database:56997, Ensembl:ENSG00000163050, GenAtlas:CABC1, GeneCard:CABC1, HGNC:HGNC:16812, HumanCyc Gene:HS15012, ModBase:Q8NI60, NCBI Gene:56997, OMIM:606980, OMIM:607426, OMIM:612016, RefSeq DNA:NG_012825, RefSeq DNA:NT_167186, RefSeq Protein:NP_064632, RefSeq RNA:NM_020247, UCSC Genome Browser:NM_020247, UniProtKB:Q8NI60 No chr1 227084589 227175246 226939339 226987545 +PA134988974 79934 HGNC:19041 ENSG00000123815 coenzyme Q8B COQ8B aarF domain containing kinase 4 ADCK4, COQ8, FLJ12229 Yes Yes Comparative Toxicogenomics Database:79934, Ensembl:ENSG00000123815, GeneCard:ADCK4, HGNC:HGNC:19041, HumanCyc Gene:HS13101, ModBase:Q96D53, NCBI Gene:79934, RefSeq DNA:NT_011109, RefSeq Protein:NP_001136027, RefSeq Protein:NP_079152, RefSeq RNA:NM_001142555, RefSeq RNA:NM_024876, UniProtKB:Q96D53 No chr19 41197434 41222790 40691529 40716885 +PA142672085 57017 HGNC:25302 ENSG00000088682 coenzyme Q9 COQ9 coenzyme Q9 homolog (S. cerevisiae) C16orf49, DKFZP434K046 Yes No Comparative Toxicogenomics Database:57017, Ensembl:ENSG00000088682, GeneCard:COQ9, HGNC:HGNC:25302, ModBase:O75208, NCBI Gene:57017, OMIM:607426, OMIM:612837, RefSeq DNA:NT_010498, RefSeq Protein:NP_064708, RefSeq RNA:NM_020312, UniProtKB:O75208 No chr16 57481337 57495187 57447425 57461275 +PA134972424 10699 HGNC:19012 ENSG00000145244 corin, serine peptidase CORIN ATC2, CRN, Lrp4, PRSC, TMPRSS10 Yes No Ensembl:ENSG00000145244, GeneCard:CORIN, HGNC:HGNC:19012, HumanCyc Gene:HS07238, ModBase:Q9Y5Q5, NCBI Gene:10699, OMIM:605236, RefSeq DNA:NT_006238, RefSeq Protein:NP_006578, RefSeq RNA:NM_006587, UniProtKB:Q9Y5Q5 No chr4 47596015 47840395 47593998 47838106 +PA26768 11151 HGNC:2252 ENSG00000102879 coronin 1A CORO1A """Clabp TACO"", ""coronin, actin binding protein, 1A""" HCORO1, coronin-1, p57 Yes No Comparative Toxicogenomics Database:11151, Ensembl:ENSG00000102879, GenAtlas:CORO1A, GeneCard:CORO1A, HGNC:HGNC:2252, HumanCyc Gene:HS02420, ModBase:P31146, NCBI Gene:11151, OMIM:605000, RefSeq DNA:NG_005305, RefSeq DNA:NG_023415, RefSeq DNA:NT_010393, RefSeq Protein:NP_001180262, RefSeq Protein:NP_009005, RefSeq RNA:NM_001193333, RefSeq RNA:NM_007074, UCSC Genome Browser:NM_007074, UniProtKB:P31146 No chr16 30194731 30200397 30183410 30189076 +PA26769 57175 HGNC:2253 ENSG00000172725 coronin 1B CORO1B coronin, actin binding protein, 1B coronin-2 Yes No Comparative Toxicogenomics Database:57175, Ensembl:ENSG00000172725, GenAtlas:CORO1B, GeneCard:CORO1B, HGNC:HGNC:2253, HumanCyc Gene:HS10558, ModBase:Q9BR76, NCBI Gene:57175, OMIM:609849, RefSeq DNA:NT_167190, RefSeq Protein:NP_001018080, RefSeq Protein:NP_065174, RefSeq RNA:NM_001018070, RefSeq RNA:NM_020441, UCSC Genome Browser:NM_020441, UniProtKB:Q9BR76 No chr11 67205518 67211371 67438047 67443821 +PA26770 23603 HGNC:2254 ENSG00000110880 coronin 1C CORO1C coronin, actin binding protein, 1C HCRNN4, coronin-3 Yes No Comparative Toxicogenomics Database:23603, Ensembl:ENSG00000110880, GenAtlas:CORO1C, GeneCard:CORO1C, HGNC:HGNC:2254, HumanCyc Gene:HS03349, ModBase:Q9ULV4, NCBI Gene:23603, OMIM:605269, RefSeq DNA:NT_029419, RefSeq Protein:NP_055140, RefSeq RNA:NM_014325, UCSC Genome Browser:NM_014325, UniProtKB:Q9ULV4 No chr12 109038885 109125326 108645109 108731550 +PA26771 7464 HGNC:2255 ENSG00000106789 coronin 2A CORO2A """WD protein IR10"", ""WD-repeat protein 2"", ""coronin 2A"", ""coronin, actin binding protein, 2A"", ""coronin-like protein B""" IR10, WDR2 Yes No Ensembl:ENSG00000106789, GenAtlas:CORO2A, GeneCard:CORO2A, HGNC:HGNC:2255, HumanCyc Gene:HS02951, ModBase:Q92828, NCBI Gene:7464, OMIM:602159, RefSeq DNA:NT_008470, RefSeq Protein:NP_003380, RefSeq Protein:NP_438171, RefSeq RNA:NM_003389, RefSeq RNA:NM_052820, UCSC Genome Browser:NM_003389, UniProtKB:A8K9S3, UniProtKB:Q92828 No chr9 100883257 100954956 98120975 98192674 +PA26772 10391 HGNC:2256 ENSG00000103647 coronin 2B CORO2B """clipin C"", ""coronin, actin binding protein, 2B"", ""coronin, actin-binding, 2B""" ClipinC, KIAA0925 Yes No Comparative Toxicogenomics Database:10391, Ensembl:ENSG00000103647, GenAtlas:CORO2B, GeneCard:CORO2B, HGNC:HGNC:2256, HumanCyc Gene:HS02525, ModBase:Q9UQ03, NCBI Gene:10391, OMIM:605002, RefSeq DNA:NT_010194, RefSeq Protein:NP_001177385, RefSeq Protein:NP_001177386, RefSeq Protein:NP_006082, RefSeq RNA:NM_001190456, RefSeq RNA:NM_001190457, RefSeq RNA:NM_006091, UCSC Genome Browser:NM_006091, UniProtKB:Q9UQ03 No chr15 68851614 69020145 68518373 68727806 +PA134869901 84940 HGNC:21356 ENSG00000167549 coronin 6 CORO6 ClipinE, FLJ14871 Yes No Ensembl:ENSG00000167549, GeneCard:CORO6, HGNC:HGNC:21356, HumanCyc Gene:HS15563, NCBI Gene:84940, RefSeq DNA:NT_010799, RefSeq Protein:NP_116243, RefSeq RNA:NM_032854, UniProtKB:B3KRY9, UniProtKB:B3KU26 No chr17 27941774 27949926 29614756 29622912 +PA134910806 79585 HGNC:26161 ENSG00000103426, ENSG00000262246 coronin 7 CORO7 FLJ22021, POD1 Yes Yes Ensembl:ENSG00000103426, Ensembl:ENSG00000262246, GeneCard:CORO7, HGNC:HGNC:26161, HumanCyc Gene:HS02503, ModBase:P57737, NCBI Gene:79585, OMIM:611668, RefSeq DNA:NT_010393, RefSeq Protein:NP_001188401, RefSeq Protein:NP_001188402, RefSeq Protein:NP_078811, RefSeq RNA:NM_001201472, RefSeq RNA:NM_001201473, RefSeq RNA:NM_024535, UniProtKB:P57737 No chr16 4404543 4466962 4354542 4416961 +PA26773 1325 HGNC:2257 ENSG00000241563 cortistatin CORT prepro-cortistatin, somatostatin 2 MGC32686, SST2 Yes No Ensembl:ENSG00000241563, GenAtlas:CORT, GeneCard:CORT, HGNC:HGNC:2257, HumanCyc Gene:HS10904, NCBI Gene:1325, OMIM:602784, RefSeq DNA:NT_021937, RefSeq Protein:NP_001293, RefSeq RNA:NM_001302, UCSC Genome Browser:NM_001302, UniProtKB:O00230, UniProtKB:Q8IUV6 No chr1 10509776 10512060 10449719 10452003 +PA38522 23406 HGNC:18304 ENSG00000103187 coactosin like F-actin binding protein 1 COTL1 coactosin-like 1 (Dictyostelium), coactosin-like F-actin binding protein 1 CLP Yes No Comparative Toxicogenomics Database:23406, Ensembl:ENSG00000103187, GenAtlas:COTL1, GeneCard:COTL1, HGNC:HGNC:18304, HumanCyc Gene:HS02468, ModBase:Q14019, NCBI Gene:23406, OMIM:606748, RefSeq DNA:NT_010498, RefSeq Protein:NP_066972, RefSeq RNA:NM_021149, UCSC Genome Browser:NM_021149, UniProtKB:Q14019 No chr16 84599202 84651669 84565596 84618096 +PA26612 27170 HGNC:2086 ENSG00000229749 coactosin-like 1 (Dictyostelium) pseudogene 1 COTL1P1 Yes No Ensembl:ENSG00000229749, GenAtlas:CLPSMCR, GeneCard:COTL1P1, HGNC:HGNC:2086, NCBI Gene:27170, RefSeq DNA:NG_001537, RefSeq DNA:NT_010718 No chr17 16757176 16759430 16853862 16856116 +PA134915545 347720 HGNC:24322 ENSG00000235323 coactosin-like 1 (Dictyostelium) pseudogene 2 COTL1P2 Yes No Ensembl:ENSG00000235323, GeneCard:COTL1P2, HGNC:HGNC:24322, NCBI Gene:347720, RefSeq DNA:NG_002773, RefSeq DNA:NT_010718 No chr17 20467777 20469994 20564464 20566681 +PA26776 1352 HGNC:2260 ENSG00000006695 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 COX10 """COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor"", ""cytochrome c oxidase assembly homolog 10 (yeast)"", ""heme A: farnesyltransferase"", ""heme O synthase"", ""protoheme IX farnesyltransferase, mitochondrial""" Yes No Comparative Toxicogenomics Database:1352, Ensembl:ENSG00000006695, GenAtlas:COX10, GeneCard:COX10, HGNC:HGNC:2260, HumanCyc Gene:HS00191, NCBI Gene:1352, OMIM:602125, RefSeq DNA:NG_008034, RefSeq DNA:NT_010718, RefSeq Protein:NP_001294, RefSeq RNA:NM_001303, UCSC Genome Browser:NM_001303, UniProtKB:Q12887 No chr17 13972719 14111996 14069402 14208679 +PA26777 1353 HGNC:2261 ENSG00000166260 cytochrome c oxidase copper chaperone COX11 COX11 COX11 cytochrome c oxidase copper chaperone, cytochrome c oxidase assembly homolog 11 (yeast), cytochrome c oxidase assembly protein COX11, cytochrome c oxidase subunit 11 COX11P Yes No Comparative Toxicogenomics Database:1353, Ensembl:ENSG00000166260, GenAtlas:COX11, GeneCard:COX11, HGNC:HGNC:2261, HumanCyc Gene:HS09363, ModBase:Q9Y6N1, NCBI Gene:1353, OMIM:603648, RefSeq DNA:NT_010783, RefSeq Protein:NP_001156333, RefSeq Protein:NP_001156334, RefSeq Protein:NP_004366, RefSeq RNA:NM_001162861, RefSeq RNA:NM_001162862, RefSeq RNA:NM_004375, RefSeq RNA:NR_027941, RefSeq RNA:NR_027942, UCSC Genome Browser:NM_004375, UniProtKB:B4DEY8, UniProtKB:B4DI26, UniProtKB:Q9Y6N1 No chr17 53029259 53046064 54951898 54971024 +PA26778 140468 HGNC:2262 ENSG00000231162 COX11 cytochrome c oxidase assembly homolog (yeast) pseudogene 1 COX11P1 Yes No Ensembl:ENSG00000231162, GenAtlas:COX11P, GeneCard:COX11P1, HGNC:HGNC:2262, NCBI Gene:140468, RefSeq DNA:NG_007347, RefSeq DNA:NT_007592, RefSeq RNA:NR_000031 No chr6 28414697 28415407 28446920 28447630 +PA143485391 84987 HGNC:28216 ENSG00000178449 cytochrome c oxidase assembly factor COX14 COX14 COX14 cytochrome c oxidase assembly factor, cytochrome c oxidase assembly homolog 14 (S. cerevisiae) C12orf62, MGC14288 Yes No Ensembl:ENSG00000178449, GeneCard:C12orf62, HGNC:HGNC:28216, HumanCyc Gene:HS17061, NCBI Gene:84987, RefSeq DNA:NT_029419, RefSeq Protein:NP_116290, RefSeq RNA:NM_032901, UniProtKB:Q96I36 No chr12 50503418 50514240 50111981 50120457 +PA26779 1355 HGNC:2263 ENSG00000014919 cytochrome c oxidase assembly homolog COX15 COX15 cytochrome c oxidase assembly homolog 15 (yeast) CEMCOX2 Yes No Comparative Toxicogenomics Database:1355, Ensembl:ENSG00000014919, GenAtlas:COX15, GeneCard:COX15, HGNC:HGNC:2263, HumanCyc Gene:HS00363, NCBI Gene:1355, OMIM:256000, OMIM:603646, RefSeq DNA:NG_008986, RefSeq DNA:NT_030059, RefSeq Protein:NP_004367, RefSeq Protein:NP_510870, RefSeq RNA:NM_004376, RefSeq RNA:NM_078470, UCSC Genome Browser:NM_004376, UniProtKB:Q7KZN9 No chr10 101455886 101492423 99694793 99732667 +PA162382755 51241 HGNC:20213 ENSG00000133983 cytochrome c oxidase assembly factor COX16 COX16 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) C14orf112, HSPC203 Yes No Ensembl:ENSG00000133983, GeneCard:COX16, HGNC:HGNC:20213, HumanCyc Gene:HS13503, NCBI Gene:51241, RefSeq DNA:NT_026437, RefSeq Protein:NP_001191019, RefSeq Protein:NP_057552, RefSeq RNA:NM_001204090, RefSeq RNA:NM_016468, UniProtKB:B8XYC5, UniProtKB:Q9P0S2 No chr14 70791798 70826448 70325081 70359731 +PA26780 10063 HGNC:2264 ENSG00000138495 cytochrome c oxidase copper chaperone COX17 COX17 COX17 cytochrome c oxidase copper chaperone, cytochrome c oxidase 17 copper chaperone Yes No Comparative Toxicogenomics Database:10063, Ensembl:ENSG00000138495, GenAtlas:COX17, GeneCard:COX17, HGNC:HGNC:2264, HumanCyc Gene:HS06512, ModBase:Q14061, NCBI Gene:10063, OMIM:604813, RefSeq DNA:NT_005612, RefSeq Protein:NP_005685, RefSeq RNA:NM_005694, UCSC Genome Browser:NM_005694, UniProtKB:Q14061 No chr3 119388372 119396243 119659975 119677441 +PA145008543 285521 HGNC:26801 ENSG00000163626 cytochrome c oxidase assembly factor COX18 COX18 COX18 cytochrome c oxidase assembly factor, cytochrome c oxidase assembly homolog 18 (yeast) FLJ38991, OXA1L2 Yes No Ensembl:ENSG00000163626, GeneCard:COX18, HGNC:HGNC:26801, NCBI Gene:285521, OMIM:610428, RefSeq DNA:NT_022778, RefSeq Protein:NP_776188, RefSeq RNA:NM_173827, UniProtKB:Q8N8Q8 No chr4 73920416 73935476 73054696 73069759 +PA145008561 90639 HGNC:28074 ENSG00000240230 cytochrome c oxidase assembly factor COX19 COX19 COX19 cytochrome c oxidase assembly factor, cytochrome c oxidase assembly homolog 19 (S. cerevisiae) MGC104475 Yes No Ensembl:ENSG00000240230, GeneCard:COX19, HGNC:HGNC:28074, ModBase:Q49B96, NCBI Gene:90639, OMIM:610429, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001026788, RefSeq RNA:NM_001031617, UniProtKB:Q49B96 No chr7 1004486 1015235 964850 975599 +PA134976890 116228 HGNC:26970 ENSG00000203667 cytochrome c oxidase assembly factor COX20 COX20 COX20 Cox2 chaperone homolog (S. cerevisiae), COX20 cytochrome c oxidase assembly factor FAM36A, FLJ43269 Yes No Ensembl:ENSG00000203667, GeneCard:FAM36A, HGNC:HGNC:26970, NCBI Gene:116228, RefSeq DNA:NT_167186, RefSeq Protein:NP_932342, RefSeq RNA:NM_198076, UniProtKB:B3KM21, UniProtKB:Q5RI15 No chr1 244998608 245008359 244835306 244845063 +PA134974260 100507102 HGNC:31435 ENSG00000213025 COX20 Cox2 chaperone homolog (S. cerevisiae) pseudogene 1 COX20P1 bA119F7.2 Yes No Ensembl:ENSG00000213025, GeneCard:FAM36B, HGNC:HGNC:31435, NCBI Gene:100507102 No chr10 70392094 70392593 68632337 68632836 +PA26781 1327 HGNC:2265 ENSG00000131143 cytochrome c oxidase subunit 4I1 COX4I1 cytochrome c oxidase subunit IV isoform 1 COX4, COX4-1, COXIV, COXIV-1 Yes No Comparative Toxicogenomics Database:1327, Ensembl:ENSG00000131143, GenAtlas:COX4I1, GeneCard:COX4I1, HGNC:HGNC:2265, HumanCyc Gene:HS05494, ModBase:P13073, NCBI Gene:1327, OMIM:123864, RefSeq DNA:NT_010498, RefSeq Protein:NP_001852, RefSeq RNA:NM_001861, UCSC Genome Browser:NM_001861, UniProtKB:P13073 No chr16 85833173 85840608 85799567 85807003 +PA26782 122867 HGNC:2266 ENSG00000258956 cytochrome c oxidase subunit IV isoform 1 pseudogene 1 COX4I1P1 Yes No Ensembl:ENSG00000258956, GenAtlas:COX4I1P1, GeneCard:COX4I1P1, HGNC:HGNC:2266, NCBI Gene:122867, RefSeq DNA:NG_017086, RefSeq DNA:NT_026437 No chr14 62298457 62299140 61831739 61832422 +PA26783 84701 HGNC:16232 ENSG00000131055 cytochrome c oxidase subunit 4I2 COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung), cytochrome c oxidase subunit IV-like 2 COX4-2, COX4B, COX4L2, COXIV-2, dJ857M17.2 Yes No Ensembl:ENSG00000131055, GenAtlas:COX4I2, GeneCard:COX4I2, HGNC:HGNC:16232, HumanCyc Gene:HS05480, ModBase:Q96KJ9, NCBI Gene:84701, OMIM:607976, OMIM:612714, RefSeq DNA:NG_012180, RefSeq DNA:NT_011362, RefSeq Protein:NP_115998, RefSeq RNA:NM_032609, UCSC Genome Browser:NM_032609, UniProtKB:Q96KJ9 No chr20 30225685 30232837 31637856 31645009 +PA26784 9377 HGNC:2267 ENSG00000178741 cytochrome c oxidase subunit 5A COX5A """Cytochrome c oxidase subunit 5A, mitochondrial"", ""cytochrome c oxidase subunit Va""" COX-VA Yes No Comparative Toxicogenomics Database:9377, Ensembl:ENSG00000178741, GenAtlas:COX5A, GeneCard:COX5A, HGNC:HGNC:2267, HumanCyc Gene:HS11312, ModBase:P20674, NCBI Gene:9377, OMIM:603773, RefSeq DNA:NT_010194, RefSeq Protein:NP_004246, RefSeq RNA:NM_004255, UCSC Genome Browser:NM_004255, UniProtKB:P20674 No chr15 75212616 75230495 74920275 74938154 +PA26785 9385 HGNC:2268 ENSG00000271180 cytochrome c oxidase subunit Va pseudogene 1 COX5AP1 Yes No Ensembl:ENSG00000271180, GenAtlas:COX5AP1, GeneCard:COX5AP1, HGNC:HGNC:2268, NCBI Gene:9385, RefSeq DNA:NG_001220, RefSeq DNA:NT_026437 No chr14 55707157 55707875 55240439 55241157 +PA134931827 319087 HGNC:20005 ENSG00000258981 cytochrome c oxidase subunit Va pseudogene 2 COX5AP2 Yes No Ensembl:ENSG00000258981, GeneCard:COX5AP2, HGNC:HGNC:20005, NCBI Gene:319087, RefSeq DNA:NG_002477, RefSeq DNA:NT_026437 No chr14 52584234 52584895 52117516 52118177 +PA26786 1329 HGNC:2269 ENSG00000135940 cytochrome c oxidase subunit 5B COX5B cytochrome c oxidase subunit Vb Yes No Comparative Toxicogenomics Database:1329, Ensembl:ENSG00000135940, GenAtlas:COX5B, GeneCard:COX5B, HGNC:HGNC:2269, HumanCyc Gene:HS06090, ModBase:P10606, NCBI Gene:1329, OMIM:123866, RefSeq DNA:NT_022171, RefSeq Protein:NP_001853, RefSeq RNA:NM_001862, UCSC Genome Browser:NM_001862, UniProtKB:P10606, UniProtKB:Q53YB7 No chr2 98262521 98264657 97646058 97648194 +PA26787 1330 HGNC:2270 ENSG00000248448 cytochrome c oxidase subunit Vb pseudogene 1 COX5BP1 Yes No Ensembl:ENSG00000248448, GenAtlas:COX5BL1, GeneCard:COX5BP1, HGNC:HGNC:2270, NCBI Gene:1330, RefSeq DNA:NG_003010, RefSeq DNA:NT_016354 No chr4 82841075 82841553 81919922 81920400 +PA26788 1331 HGNC:2271 ENSG00000213111 cytochrome c oxidase subunit Vb pseudogene 2 COX5BP2 Yes No Ensembl:ENSG00000213111, GenAtlas:COX5BL2, GeneCard:COX5BP2, HGNC:HGNC:2271, NCBI Gene:1331, RefSeq DNA:NT_025741 No chr6 136355653 136356024 136034515 136034886 +PA26789 1332 HGNC:2272 ENSG00000235967 cytochrome c oxidase subunit Vb pseudogene 3 COX5BP3 Yes No Ensembl:ENSG00000235967, GenAtlas:COX5BL3, GeneCard:COX5BP3, HGNC:HGNC:2272, NCBI Gene:1332, RefSeq DNA:NT_007933 No chr7 133412033 133412521 133727280 133727768 +PA26790 1333 HGNC:2273 ENSG00000255010 cytochrome c oxidase subunit Vb pseudogene 4 COX5BP4 Yes No Ensembl:ENSG00000255010, GenAtlas:COX5BL4, GeneCard:COX5BP4, HGNC:HGNC:2273, NCBI Gene:1333, RefSeq DNA:NT_167190 No chr11 82817530 82818025 83106488 83106983 +PA26791 100288440 HGNC:2274 cytochrome c oxidase subunit Vb pseudogene 5 COX5BP5 Yes No GenAtlas:COX5BL5, GeneCard:COX5BL5, HGNC:HGNC:2274, NCBI Gene:100288440 No chr12 50102785 50103247 49709002 49709464 +PA26792 1335 HGNC:2275 ENSG00000237082 cytochrome c oxidase subunit Vb pseudogene 6 COX5BP6 Yes No Ensembl:ENSG00000237082, GenAtlas:COX5BL6, GeneCard:COX5BP6, HGNC:HGNC:2275, NCBI Gene:1335, RefSeq DNA:NT_009952 No chr13 +PA26793 1336 HGNC:2276 ENSG00000226024 cytochrome c oxidase subunit Vb pseudogene 7 COX5BP7 Yes No Ensembl:ENSG00000226024, GenAtlas:COX5BL7, GeneCard:COX5BP7, HGNC:HGNC:2276, NCBI Gene:1336, RefSeq DNA:NG_002633, RefSeq DNA:NT_011520 No chr22 39516091 39516678 39120204 39120564 +PA26794 1337 HGNC:2277 ENSG00000111775 cytochrome c oxidase subunit 6A1 COX6A1 cytochrome c oxidase subunit VIa liver isoform, cytochrome c oxidase subunit VIa polypeptide 1 COX6A, COX6AL Yes No Comparative Toxicogenomics Database:1337, Ensembl:ENSG00000111775, GenAtlas:COX6A1, GeneCard:COX6A1, HGNC:HGNC:2277, HumanCyc Gene:HS03462, ModBase:P12074, NCBI Gene:1337, OMIM:602072, RefSeq DNA:NT_009775, RefSeq Protein:NP_004364, RefSeq RNA:NM_004373, UCSC Genome Browser:NM_004373, UniProtKB:P12074 No chr12 120875893 120878545 120438090 120440742 +PA26795 1338 HGNC:2278 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 1 COX6A1P1 Yes No GenAtlas:COX6A1P, GeneCard:COX6A1P1, HGNC:HGNC:2278, NCBI Gene:1338, RefSeq DNA:NG_001105, RefSeq DNA:NT_032977 No chr1 80961574 80962107 80495889 80496422 +PA26796 1339 HGNC:2279 ENSG00000156885 cytochrome c oxidase subunit 6A2 COX6A2 cytochrome c oxidase subunit VIa polypeptide 2 COX6AH, COXVIAH, COXVIa-M Yes No Comparative Toxicogenomics Database:1339, Ensembl:ENSG00000156885, GenAtlas:COX6A2, GeneCard:COX6A2, HGNC:HGNC:2279, HumanCyc Gene:HS08157, ModBase:Q02221, NCBI Gene:1339, OMIM:602009, RefSeq DNA:NT_010393, RefSeq Protein:NP_005196, RefSeq RNA:NM_005205, UCSC Genome Browser:NM_005205, UniProtKB:Q02221 No chr16 31439052 31439749 31427731 31428428 +PA26797 1340 HGNC:2280 ENSG00000126267 cytochrome c oxidase subunit 6B1 COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) COX6B, COXG Yes No Comparative Toxicogenomics Database:1340, Ensembl:ENSG00000126267, GenAtlas:COX6B1, GeneCard:COX6B1, HGNC:HGNC:2280, HumanCyc Gene:HS05010, ModBase:P14854, NCBI Gene:1340, OMIM:124089, OMIM:220110, RefSeq DNA:NG_012193, RefSeq DNA:NT_011109, RefSeq Protein:NP_001854, RefSeq RNA:NM_001863, UCSC Genome Browser:NM_001863, UniProtKB:P14854 No chr19 36139125 36149686 35648223 35658784 +PA26798 140603 HGNC:2281 ENSG00000234565 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 1 COX6B1P1 Yes No Ensembl:ENSG00000234565, GenAtlas:COX6BP1, GeneCard:COX6B1P1, HGNC:HGNC:2281, NCBI Gene:140603, RefSeq DNA:NG_007348, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq RNA:NR_002210 No chr7 148750959 148751399 149053867 149054307 +PA26799 1342 HGNC:2282 ENSG00000241788 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 2 COX6B1P2 Yes No Ensembl:ENSG00000241788, GenAtlas:COX6BP2, GeneCard:COX6B1P2, HGNC:HGNC:2282, NCBI Gene:1342, RefSeq DNA:NG_005205, RefSeq DNA:NT_010783 No chr17 46791009 46791230 48713647 48713868 +PA26800 1343 HGNC:2283 ENSG00000172912 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 3 COX6B1P3 Yes No Ensembl:ENSG00000172912, GenAtlas:COX6BP3, GeneCard:COX6B1P3, HGNC:HGNC:2283, NCBI Gene:1343, RefSeq DNA:NG_005206, RefSeq DNA:NT_011520 No chr22 40965193 40965685 40569189 40569681 +PA134869389 125965 HGNC:24380 ENSG00000160471 cytochrome c oxidase subunit 6B2 COX6B2 """cancer/testis antigen 59"", ""cytochrome c oxidase subunit VIb polypeptide 2 (testis)"", ""cytochrome c oxidase subunit VIb, testes specific""" COXVIB2, CT59, FLJ32865 Yes No Comparative Toxicogenomics Database:125965, Ensembl:ENSG00000160471, GeneCard:COX6B2, HGNC:HGNC:24380, HumanCyc Gene:HS14814, ModBase:Q6YFQ2, NCBI Gene:125965, RefSeq DNA:NT_011109, RefSeq Protein:NP_653214, RefSeq RNA:NM_144613, UniProtKB:Q6YFQ2 No chr19 55861070 55866182 55349702 55354814 +PA26802 1345 HGNC:2285 ENSG00000164919 cytochrome c oxidase subunit 6C COX6C cytochrome c oxidase subunit VIc Yes No Comparative Toxicogenomics Database:1345, Ensembl:ENSG00000164919, GenAtlas:COX6C, GeneCard:COX6C, HGNC:HGNC:2285, HumanCyc Gene:HS09158, ModBase:P09669, NCBI Gene:1345, OMIM:124090, RefSeq DNA:NT_008046, RefSeq Protein:NP_004365, RefSeq RNA:NM_004374, UCSC Genome Browser:NM_004374, UniProtKB:P09669 No chr8 100890223 100906242 99877995 99894014 +PA26803 9384 HGNC:2286 ENSG00000260318 cytochrome c oxidase subunit VIc pseudogene 1 COX6CP1 Yes No Ensembl:ENSG00000260318, GenAtlas:COX6CP1, GeneCard:COX6CP1, HGNC:HGNC:2286, NCBI Gene:9384, RefSeq DNA:NG_001219, RefSeq DNA:NT_010393 No chr16 11997658 11998050 11903753 11904193 +PA26804 170504 HGNC:16600 ENSG00000231715 cytochrome c oxidase subunit VIc pseudogene 2 COX6CP2 dJ894K16.1 Yes No Ensembl:ENSG00000231715, GenAtlas:COX6CP2, GeneCard:COX6CP2, HGNC:HGNC:16600, NCBI Gene:170504, RefSeq DNA:NG_001033, RefSeq DNA:NT_011362 No chr20 49096253 49096642 50479693 50480105 +PA142672083 100288892 HGNC:32374 ENSG00000270500 cytochrome c oxidase subunit VIc pseudogene 4 COX6CP4 Yes No Ensembl:ENSG00000270500, GeneCard:COX6CP4, HGNC:HGNC:32374, NCBI Gene:100288892, RefSeq DNA:NG_012732, RefSeq DNA:NT_010194, RefSeq Protein:XP_002343377, RefSeq Protein:XP_002344873, RefSeq Protein:XP_002347565, RefSeq RNA:XM_002343336, RefSeq RNA:XM_002344832, RefSeq RNA:XM_002347524 No chr15 36864131 36864510 36571930 36572309 +PA26805 1346 HGNC:2287 ENSG00000161281 cytochrome c oxidase subunit 7A1 COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) COX7A, COX7AH Yes No Comparative Toxicogenomics Database:1346, Ensembl:ENSG00000161281, GenAtlas:COX7A1, GeneCard:COX7A1, HGNC:HGNC:2287, HumanCyc Gene:HS00005, ModBase:P24310, NCBI Gene:1346, OMIM:123995, RefSeq DNA:NT_011109, RefSeq Protein:NP_001855, RefSeq RNA:NM_001864, UCSC Genome Browser:NM_001864, UniProtKB:P24310, UniProtKB:Q6FGI7 No chr19 36641824 36643771 36150922 36152869 +PA26806 1347 HGNC:2288 ENSG00000112695 cytochrome c oxidase subunit 7A2 COX7A2 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) COX7AL, COXVIIa-L Yes No Comparative Toxicogenomics Database:1347, Ensembl:ENSG00000112695, GenAtlas:COX7A2, GeneCard:COX7A2, HGNC:HGNC:2288, HumanCyc Gene:HS03606, ModBase:P14406, NCBI Gene:1347, OMIM:123996, RefSeq DNA:NT_007299, RefSeq Protein:NP_001856, RefSeq RNA:NM_001865, RefSeq RNA:NR_029466, UCSC Genome Browser:NM_001865, UniProtKB:P14406 No chr6 75947391 75953644 75237675 75243928 +PA26807 9167 HGNC:2289 ENSG00000115944 cytochrome c oxidase subunit 7A2 like COX7A2L cytochrome c oxidase subunit VIIa polypeptide 2 like COX7AR, COX7RP, EB1, SCAF1, SCAFI, SIG81 Yes No Comparative Toxicogenomics Database:9167, Ensembl:ENSG00000115944, GenAtlas:COX7A2L, GeneCard:COX7A2L, HGNC:HGNC:2289, HumanCyc Gene:HS03956, ModBase:O14548, NCBI Gene:9167, OMIM:605771, RefSeq DNA:NT_022184, RefSeq Protein:NP_004709, RefSeq RNA:NM_004718, UCSC Genome Browser:NM_004718, UniProtKB:O14548, UniProtKB:Q6FGA0 No chr2 42577640 42596150 42335561 42368957 +PA134927529 319098 HGNC:20006 ENSG00000258626 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 1 COX7A2P1 Yes No Ensembl:ENSG00000258626, HGNC:HGNC:20006, NCBI Gene:319098, RefSeq DNA:NG_002479, RefSeq DNA:NT_026437 No chr14 68118946 68119346 67652229 67652629 +PA26808 1348 HGNC:2290 ENSG00000236764 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 2 COX7A2P2 COX7AL2 Yes No Ensembl:ENSG00000236764, GenAtlas:COX7AP2, GeneCard:COX7A2P2, HGNC:HGNC:2290, ModBase:O60397, NCBI Gene:1348, OMIM:123997, RefSeq DNA:NG_004712, RefSeq DNA:NT_016354, UCSC Genome Browser:NM_183003 No chr4 97823918 97824340 96902763 96903189 +PA26809 1349 HGNC:2291 ENSG00000131174 cytochrome c oxidase subunit 7B COX7B cytochrome c oxidase subunit VIIb Yes No Comparative Toxicogenomics Database:1349, Ensembl:ENSG00000131174, GenAtlas:COX7B, GeneCard:COX7B, HGNC:HGNC:2291, HumanCyc Gene:HS05498, ModBase:P24311, NCBI Gene:1349, OMIM:603792, RefSeq DNA:NT_011651, RefSeq Protein:NP_001857, RefSeq RNA:NM_001866, UCSC Genome Browser:NM_001866, UniProtKB:P24311 No chrX 77154961 77160881 77899464 77905384 +PA134885922 170712 HGNC:24381 ENSG00000170516 cytochrome c oxidase subunit 7B2 COX7B2 cytochrome c oxidase subunit VIIb2 Yes No Ensembl:ENSG00000170516, GeneCard:COX7B2, HGNC:HGNC:24381, HumanCyc Gene:HS15893, ModBase:Q8TF08, NCBI Gene:170712, OMIM:609811, RefSeq DNA:NT_006238, RefSeq Protein:NP_570972, RefSeq RNA:NM_130902, UniProtKB:Q8TF08 No chr4 46736844 46911252 46734827 46909266 +PA26810 114657 HGNC:16529 cytochrome c oxidase subunit VIIb pseudogene 1 COX7BP1 bK714B7.1 Yes No GenAtlas:COX7BP1, GeneCard:COX7BP1, HGNC:HGNC:16529, NCBI Gene:114657, RefSeq DNA:NG_001300, RefSeq DNA:NT_011520 No chr22 35590395 35591025 35194402 35195032 +PA26811 140692 HGNC:16601 ENSG00000234274 cytochrome c oxidase subunit VIIb pseudogene 2 COX7BP2 dJ901O8.2 Yes No Ensembl:ENSG00000234274, GenAtlas:COX7BP2, GeneCard:COX7BP2, HGNC:HGNC:16601, NCBI Gene:140692, RefSeq DNA:NG_005370, RefSeq DNA:NT_011362 No chr20 34438423 34438880 35850501 35850958 +PA26812 1350 HGNC:2292 ENSG00000127184 cytochrome c oxidase subunit 7C COX7C cytochrome c oxidase subunit VIIc Yes No Comparative Toxicogenomics Database:1350, Ensembl:ENSG00000127184, GenAtlas:COX7C, GeneCard:COX7C, HGNC:HGNC:2292, HumanCyc Gene:HS05077, ModBase:P15954, NCBI Gene:1350, OMIM:603774, RefSeq DNA:NT_006713, RefSeq Protein:NP_001858, RefSeq RNA:NM_001867, UCSC Genome Browser:NM_001867, UniProtKB:P15954 No chr5 85913784 85916583 86617967 86620766 +PA26813 9386 HGNC:2293 ENSG00000235957 cytochrome c oxidase subunit VIIc pseudogene 1 COX7CP1 Yes No Ensembl:ENSG00000235957, GenAtlas:COX7CP1, GeneCard:COX7CP1, HGNC:HGNC:2293, NCBI Gene:9386, RefSeq DNA:NG_001221, RefSeq DNA:NT_024524 No chr13 49761495 49761885 49187359 49187749 +PA26814 1351 HGNC:2294 ENSG00000176340 cytochrome c oxidase subunit 8A COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) COX, COX8, COX8-2, COX8L, VIII, VIII-L Yes No Comparative Toxicogenomics Database:1351, Ensembl:ENSG00000176340, GenAtlas:COX8A, GeneCard:COX8A, HGNC:HGNC:2294, HumanCyc Gene:HS11040, ModBase:P10176, NCBI Gene:1351, OMIM:123870, RefSeq DNA:NT_167190, RefSeq Protein:NP_004065, RefSeq RNA:NM_004074, UCSC Genome Browser:NM_004074, UniProtKB:P10176, UniProtKB:Q53XN1 No chr11 63742079 63744015 63974607 63976543 +PA134881889 404544 HGNC:31395 cytochrome c oxidase subunit VIIIB, pseudogene COX8BP COX8-1, COX8H Yes No Comparative Toxicogenomics Database:404544, GeneCard:COX8BP, HGNC:HGNC:31395, NCBI Gene:404544, RefSeq DNA:NG_003253, RefSeq DNA:NT_009237 No chr11 253417 256972 253417 256972 +PA134909890 341947 HGNC:24382 ENSG00000187581 cytochrome c oxidase subunit 8C COX8C cytochrome c oxidase subunit VIII isoform 3, cytochrome c oxidase subunit VIIIC COX8-3 Yes No Ensembl:ENSG00000187581, GeneCard:COX8C, HGNC:HGNC:24382, ModBase:Q7Z4L0, NCBI Gene:341947, RefSeq DNA:NT_026437, RefSeq Protein:NP_892016, RefSeq RNA:NM_182971, UniProtKB:Q7Z4L0 No chr14 93813537 93814700 93347191 93348354 +PA26815 1356 HGNC:2295 ENSG00000047457 ceruloplasmin CP ceruloplasmin (ferroxidase), ferroxidase AB073614 Yes No Comparative Toxicogenomics Database:1356, Ensembl:ENSG00000047457, GenAtlas:CP, GeneCard:CP, HGNC:HGNC:2295, HumanCyc Gene:HS00590, ModBase:P00450, NCBI Gene:1356, OMIM:117700, OMIM:604290, RefSeq DNA:NG_011800, RefSeq DNA:NT_005612, RefSeq Protein:NP_000087, RefSeq RNA:NM_000096, UCSC Genome Browser:NM_000096, UniProtKB:A5PL27, UniProtKB:P00450 No chr3 148880197 148939832 149162410 149222050 +PA26816 1357 HGNC:2296 ENSG00000091704 carboxypeptidase A1 CPA1 carboxypeptidase A1 (pancreatic), pancreatic carboxypeptidase A CPA Yes No Comparative Toxicogenomics Database:1357, Ensembl:ENSG00000091704, GenAtlas:CPA1, GeneCard:CPA1, HGNC:HGNC:2296, HumanCyc Gene:HS01745, ModBase:P15085, NCBI Gene:1357, OMIM:114850, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001859, RefSeq RNA:NM_001868, UCSC Genome Browser:NM_001868, UniProtKB:P15085 No chr7 130020290 130027949 130380371 130388108 +PA26817 1358 HGNC:2297 ENSG00000158516 carboxypeptidase A2 CPA2 carboxypeptidase A2 (pancreatic) Yes Yes Ensembl:ENSG00000158516, GenAtlas:CPA2, GeneCard:CPA2, HGNC:HGNC:2297, HumanCyc Gene:HS08303, ModBase:P48052, NCBI Gene:1358, OMIM:600688, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001860, RefSeq RNA:NM_001869, UCSC Genome Browser:NM_001869, UniProtKB:P48052 No chr7 129906703 129929638 130266863 130289798 +PA26818 1359 HGNC:2298 ENSG00000163751 carboxypeptidase A3 CPA3 carboxypeptidase A3 (mast cell), mast cell carboxypeptidase A, tissue carboxypeptidase A Yes No Comparative Toxicogenomics Database:1359, Ensembl:ENSG00000163751, GenAtlas:CPA3, GeneCard:CPA3, HGNC:HGNC:2298, HumanCyc Gene:HS08930, ModBase:P15088, NCBI Gene:1359, OMIM:114851, RefSeq DNA:NT_005612, RefSeq Protein:NP_001861, RefSeq RNA:NM_001870, UCSC Genome Browser:NM_001870, UniProtKB:P15088 No chr3 148583043 148614874 148865256 148897091 +PA26819 51200 HGNC:15740 ENSG00000128510 carboxypeptidase A4 CPA4 carboxypeptidase A3 CPA3 Yes No Comparative Toxicogenomics Database:51200, Ensembl:ENSG00000128510, GenAtlas:CPA4, GeneCard:CPA4, HGNC:HGNC:15740, HumanCyc Gene:HS05189, ModBase:Q9UI42, NCBI Gene:51200, OMIM:607635, RefSeq DNA:NG_011788, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001156918, RefSeq Protein:NP_057436, RefSeq RNA:NM_001163446, RefSeq RNA:NM_016352, UCSC Genome Browser:NM_016352, UniProtKB:A4D1M3, UniProtKB:B7Z576, UniProtKB:Q9UI42 No chr7 129932974 129964020 130293134 130324180 +PA26820 93979 HGNC:15722 ENSG00000158525 carboxypeptidase A5 CPA5 Yes No Comparative Toxicogenomics Database:93979, Ensembl:ENSG00000158525, GenAtlas:CPA5, GeneCard:CPA5, HGNC:HGNC:15722, HumanCyc Gene:HS08305, ModBase:Q8WXQ8, NCBI Gene:93979, OMIM:609561, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001120913, RefSeq Protein:NP_001120914, RefSeq Protein:NP_525124, RefSeq RNA:NM_001127441, RefSeq RNA:NM_001127442, RefSeq RNA:NM_080385, UCSC Genome Browser:NM_080385, UniProtKB:A4D1M2, UniProtKB:Q6ZNI6, UniProtKB:Q8WXQ8 No chr7 129984630 130008571 130344790 130368730 +PA38444 57094 HGNC:17245 ENSG00000165078 carboxypeptidase A6 CPA6 CPAH Yes Yes Ensembl:ENSG00000165078, GenAtlas:CPA6, GeneCard:CPA6, HGNC:HGNC:17245, HumanCyc Gene:HS09181, ModBase:Q8N4T0, NCBI Gene:57094, OMIM:609562, RefSeq DNA:NT_008183, RefSeq Protein:NP_001120917, RefSeq Protein:NP_065094, RefSeq RNA:NM_001127445, RefSeq RNA:NM_020361, UCSC Genome Browser:NM_020361, UniProtKB:Q8N4T0 No chr8 68334405 68658620 67422170 67747114 +PA134915057 27151 HGNC:23228 ENSG00000160111 C3 and PZP like alpha-2-macroglobulin domain containing 8 CPAMD8 """C3 and PZP like, alpha-2-macroglobulin domain containing 8"", ""C3 and PZP-like, alpha-2-macroglobulin domain containing 8""" K-CAP, KIAA1283, VIP Yes No Ensembl:ENSG00000160111, GeneCard:CPAMD8, HGNC:HGNC:23228, HumanCyc Gene:HS08446, ModBase:Q8IZJ3, NCBI Gene:27151, OMIM:608841, RefSeq DNA:NT_011295, RefSeq DNA:NT_079592, RefSeq Protein:NP_056507, RefSeq RNA:NM_015692, UniProtKB:Q6NVW5, UniProtKB:Q8IZJ3 No chr19 17003762 17137625 16892951 17026818 +PA26821 1360 HGNC:2299 ENSG00000153002 carboxypeptidase B1 CPB1 carboxypeptidase B1 (tissue), pancreatic carboxypeptidase B, protaminase, tissue carboxypeptidase B Yes No Comparative Toxicogenomics Database:1360, Ensembl:ENSG00000153002, GenAtlas:CPB1, GeneCard:CPB1, HGNC:HGNC:2299, HumanCyc Gene:HS07870, ModBase:P15086, NCBI Gene:1360, OMIM:114852, RefSeq DNA:NT_005612, RefSeq Protein:NP_001862, RefSeq RNA:NM_001871, UCSC Genome Browser:NM_001871, UniProtKB:P15086 No chr3 148508917 148577979 148827801 148860187 +PA26822 1361 HGNC:2300 ENSG00000080618 carboxypeptidase B2 CPB2 carboxypeptidase B2 (plasma), carboxypeptidase R, carboxypeptidase U, plasma carboxypeptidase B, thrombin-activatable fibrinolysis inhibitor CPU, PCPB, TAFI Yes No Comparative Toxicogenomics Database:1361, Ensembl:ENSG00000080618, GenAtlas:CPB2, GeneCard:CPB2, HGNC:HGNC:2300, HumanCyc Gene:HS01364, ModBase:Q96IY4, NCBI Gene:1361, OMIM:603101, RefSeq DNA:NT_024524, RefSeq Protein:NP_001863, RefSeq Protein:NP_057497, RefSeq RNA:NM_001872, RefSeq RNA:NM_016413, UCSC Genome Browser:NM_001872, UniProtKB:Q96IY4 No chr13 46627201 46695318 46053186 46105076 +PA26823 1362 HGNC:2301 ENSG00000108582 carboxypeptidase D CPD metallocarboxypeptidase D GP180 Yes No Comparative Toxicogenomics Database:1362, Ensembl:ENSG00000108582, GenAtlas:CPD, GeneCard:CPD, HGNC:HGNC:2301, HumanCyc Gene:HS03128, ModBase:O75976, NCBI Gene:1362, OMIM:603102, RefSeq DNA:NT_010799, RefSeq Protein:NP_001186704, RefSeq Protein:NP_001295, RefSeq RNA:NM_001199775, RefSeq RNA:NM_001304, UCSC Genome Browser:NM_001304, UniProtKB:O75976 No chr17 28705942 28796675 30378924 30469657 +PA26824 1363 HGNC:2303 ENSG00000109472 carboxypeptidase E CPE carboxypeptidase H, cobalt-stimulated chromaffin granule carboxypeptidase, enkephalin convertase, insulin granule-associated carboxypeptidase Yes No Comparative Toxicogenomics Database:1363, Ensembl:ENSG00000109472, GenAtlas:CPE, GeneCard:CPE, HGNC:HGNC:2303, HumanCyc Gene:HS03231, ModBase:P16870, NCBI Gene:1363, OMIM:114855, RefSeq DNA:NT_016354, RefSeq Protein:NP_001864, RefSeq RNA:NM_001873, UCSC Genome Browser:NM_001873, UniProtKB:P16870 No chr4 166300097 166419482 165378942 165498547 +PA134929879 64506 HGNC:21744 ENSG00000214575, ENSG00000260836 cytoplasmic polyadenylation element binding protein 1 CPEB1 CPEB, FLJ13203 Yes No Comparative Toxicogenomics Database:64506, Ensembl:ENSG00000214575, Ensembl:ENSG00000260836, GeneCard:CPEB1, HGNC:HGNC:21744, HumanCyc Gene:HS02531, ModBase:Q9BZB8, NCBI Gene:64506, OMIM:607342, RefSeq DNA:NT_077661, RefSeq Protein:NP_001073001, RefSeq Protein:NP_001073002, RefSeq Protein:NP_001073003, RefSeq Protein:NP_085097, RefSeq RNA:NM_001079533, RefSeq RNA:NM_001079534, RefSeq RNA:NM_001079535, RefSeq RNA:NM_030594, UniProtKB:Q9BZB8 No chr15 83211948 83316762 82543201 82648016 +PA134864048 132864 HGNC:21745 ENSG00000137449 cytoplasmic polyadenylation element binding protein 2 CPEB2 Yes No Comparative Toxicogenomics Database:132864, Ensembl:ENSG00000137449, GeneCard:CPEB2, HGNC:HGNC:21745, ModBase:Q7Z5Q1, NCBI Gene:132864, OMIM:610605, RefSeq DNA:NT_006316, RefSeq Protein:NP_001170852, RefSeq Protein:NP_001170853, RefSeq Protein:NP_001170854, RefSeq Protein:NP_001170855, RefSeq Protein:NP_872291, RefSeq Protein:NP_872587, RefSeq RNA:NM_001177381, RefSeq RNA:NM_001177382, RefSeq RNA:NM_001177383, RefSeq RNA:NM_001177384, RefSeq RNA:NM_182485, RefSeq RNA:NM_182646, UniProtKB:Q7Z5Q1 No chr4 15004298 15071777 15002451 15070153 +PA134903478 22849 HGNC:21746 ENSG00000107864 cytoplasmic polyadenylation element binding protein 3 CPEB3 KIAA0940 Yes No Ensembl:ENSG00000107864, GeneCard:CPEB3, HGNC:HGNC:21746, HumanCyc Gene:HS03041, ModBase:Q8NE35, NCBI Gene:22849, OMIM:610606, RefSeq DNA:NT_030059, RefSeq Protein:NP_001171608, RefSeq Protein:NP_055727, RefSeq RNA:NM_001178137, RefSeq RNA:NM_014912, UniProtKB:Q5QP71, UniProtKB:Q8NE35 No chr10 93806452 94050875 92046692 92291118 +PA134869176 80315 HGNC:21747 ENSG00000113742 cytoplasmic polyadenylation element binding protein 4 CPEB4 KIAA1673 Yes No Comparative Toxicogenomics Database:80315, Ensembl:ENSG00000113742, GeneCard:CPEB4, HGNC:HGNC:21747, ModBase:Q17RY0, NCBI Gene:80315, OMIM:610607, RefSeq DNA:NT_023133, RefSeq Protein:NP_085130, RefSeq RNA:NM_030627, UniProtKB:Q17RY0 No chr5 173315331 173387313 173888328 173960991 +PA162380636 79974 HGNC:26159 ENSG00000106034 cadherin like and PC-esterase domain containing 1 CPED1 cadherin-like and PC-esterase domain containing 1 C7orf58, FLJ21986 Yes No Ensembl:ENSG00000106034, GeneCard:C7orf58, HGNC:HGNC:26159, HumanCyc Gene:HS12622, ModBase:A4D0V7, NCBI Gene:79974, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001099003, RefSeq Protein:NP_079189, RefSeq RNA:NM_001105533, RefSeq RNA:NM_024913, UniProtKB:A4D0V7, UniProtKB:Q9H6Q5 No chr7 120628751 120937498 120988697 121297444 +PA134866683 389160 HGNC:31714 ceruloplasmin and hephaestin-like 1 CPHL1P Yes No HGNC:HGNC:31714, NCBI Gene:389160 No chr3 148959149 148993394 149241362 149275607 +PA166182668 105371346 HGNC:51815 ENSG00000283755 cytoplasmic polyadenylated homeobox like CPHXL Yes No Ensembl:ENSG00000283755, HGNC:HGNC:51815, NCBI Gene:105371346 No 0 0 0 0 +PA166352429 112268164 HGNC:55919 cytoplasmic polyadenylated homeobox like 2 CPHXL2 Yes No HGNC:HGNC:55919, NCBI Gene:112268164 No 0 0 0 0 +PA162380188 65250 HGNC:25801 ENSG00000197603 ciliogenesis and planar polarity effector complex subunit 1 CPLANE1 Heart Under Glass, chromosome 5 open reading frame 42, ciliogenesis and planar polarity effector 1 C5orf42, FLJ13231, Hug, JBTS17 Yes No Ensembl:ENSG00000197603, GeneCard:C5orf42, HGNC:HGNC:25801, ModBase:Q9H799, NCBI Gene:65250, RefSeq DNA:NT_006576, RefSeq Protein:NP_075561, RefSeq Protein:XP_002342531, RefSeq RNA:NM_023073, RefSeq RNA:XM_002342490, UniProtKB:B7ZLV7 No chr5 37079423 37249530 37063928 37249428 +PA142672473 79363 HGNC:28127 ENSG00000132881 ciliogenesis and planar polarity effector complex subunit 2 CPLANE2 REM2 and RAB-like small GTPase 1, Rem/Rab-Similar GTPase 1, ciliogenesis and planar polarity effector 2 C1orf89, MGC10731, RSG1 Yes No Ensembl:ENSG00000132881, GeneCard:C1orf89, HGNC:HGNC:28127, HumanCyc Gene:HS05703, ModBase:Q9BU20, NCBI Gene:79363, RefSeq DNA:NT_004610, RefSeq Protein:NP_112169, RefSeq RNA:NM_030907, UniProtKB:Q9BU20 No chr1 16558182 16563659 16231687 16237445 +PA26826 10815 HGNC:2309 ENSG00000168993 complexin 1 CPLX1 CPX-I Yes No Comparative Toxicogenomics Database:10815, Ensembl:ENSG00000168993, GenAtlas:CPLX1, GeneCard:CPLX1, HGNC:HGNC:2309, ModBase:O14810, NCBI Gene:10815, OMIM:605032, RefSeq DNA:NT_037622, RefSeq Protein:NP_006642, RefSeq RNA:NM_006651, UCSC Genome Browser:NM_006651, UniProtKB:O14810 No chr4 778745 819945 784957 826157 +PA26827 10814 HGNC:2310 ENSG00000145920 complexin 2 CPLX2 CPX-2, DKFZp547D155 Yes No Comparative Toxicogenomics Database:10814, Ensembl:ENSG00000145920, GenAtlas:CPLX2, GeneCard:CPLX2, HGNC:HGNC:2310, HumanCyc Gene:HS07304, ModBase:Q6PUV4, NCBI Gene:10814, OMIM:605033, RefSeq DNA:NT_023133, RefSeq Protein:NP_001008221, RefSeq Protein:NP_006641, RefSeq RNA:NM_001008220, RefSeq RNA:NM_006650, UCSC Genome Browser:NM_006650, UniProtKB:Q6PUV4 No chr5 175223542 175311024 175796539 175884021 +PA142672081 594855 HGNC:27652 ENSG00000213578 complexin 3 CPLX3 CPX-III Yes No Comparative Toxicogenomics Database:594855, Ensembl:ENSG00000213578, GeneCard:CPLX3, HGNC:HGNC:27652, ModBase:Q8WVH0, NCBI Gene:594855, OMIM:609585, RefSeq DNA:NT_010194, RefSeq Protein:NP_001025176, RefSeq RNA:NM_001030005, UniProtKB:Q8WVH0 No chr15 75118951 75124136 74826610 74831795 +PA134902350 339302 HGNC:24330 ENSG00000166569 complexin 4 CPLX4 CPX-IV Yes No Ensembl:ENSG00000166569, GeneCard:CPLX4, HGNC:HGNC:24330, ModBase:Q7Z7G2, NCBI Gene:339302, OMIM:609586, RefSeq DNA:NT_025028, RefSeq Protein:NP_857637, RefSeq RNA:NM_181654, UniProtKB:Q7Z7G2 No chr18 56962634 56985881 59295402 59318649 +PA26828 1368 HGNC:2311 ENSG00000135678 carboxypeptidase M CPM renal carboxypeptidase, urinary carboxypeptidase B Yes No Comparative Toxicogenomics Database:1368, Ensembl:ENSG00000135678, GenAtlas:CPM, GeneCard:CPM, HGNC:HGNC:2311, HumanCyc Gene:HS06047, ModBase:P14384, NCBI Gene:1368, OMIM:114860, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005502, RefSeq Protein:NP_001865, RefSeq Protein:NP_938079, RefSeq RNA:NM_001005502, RefSeq RNA:NM_001874, RefSeq RNA:NM_198320, UCSC Genome Browser:NM_001874, UniProtKB:P14384 No chr12 69244955 69357020 68842200 68963240 +PA26829 1369 HGNC:2312 ENSG00000120054 carboxypeptidase N subunit 1 CPN1 """anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""carboxypeptidase N, polypeptide 1"", ""kininase I"", ""lysine carboxypeptidase""" Yes No Comparative Toxicogenomics Database:1369, Ensembl:ENSG00000120054, GenAtlas:CPN1, GeneCard:CPN1, HGNC:HGNC:2312, HumanCyc Gene:HS04362, ModBase:P15169, NCBI Gene:1369, OMIM:212070, OMIM:603103, RefSeq DNA:NG_012060, RefSeq DNA:NT_030059, RefSeq Protein:NP_001299, RefSeq RNA:NM_001308, UCSC Genome Browser:NM_001308, UniProtKB:B1AP59, UniProtKB:P15169 No chr10 101802065 101841642 100042308 100081885 +PA26830 1370 HGNC:2313 ENSG00000178772 carboxypeptidase N subunit 2 CPN2 carboxypeptidase N, polypeptide 2 ACBP Yes No Comparative Toxicogenomics Database:1370, Ensembl:ENSG00000178772, GenAtlas:CPN2, GeneCard:CPN2, HGNC:HGNC:2313, HumanCyc Gene:HS11923, ModBase:P22792, NCBI Gene:1370, OMIM:603104, RefSeq DNA:NT_029928, RefSeq Protein:NP_001073982, RefSeq RNA:NM_001080513, UniProtKB:P22792 No chr3 194060494 194072063 194339765 194351387 +PA26831 8904 HGNC:2314 ENSG00000214078 copine 1 CPNE1 copine I CPN1 Yes No Ensembl:ENSG00000214078, GenAtlas:CPNE1, GeneCard:CPNE1, HGNC:HGNC:2314, HumanCyc Gene:HS04982, ModBase:Q99829, NCBI Gene:8904, OMIM:604205, RefSeq DNA:NT_011362, RefSeq Protein:NP_001185792, RefSeq Protein:NP_003906, RefSeq Protein:NP_690902, RefSeq Protein:NP_690903, RefSeq Protein:NP_690904, RefSeq Protein:NP_690905, RefSeq Protein:NP_690906, RefSeq Protein:NP_690907, RefSeq Protein:NP_690908, RefSeq RNA:NM_001198863, RefSeq RNA:NM_003915, RefSeq RNA:NM_152925, RefSeq RNA:NM_152926, RefSeq RNA:NM_152927, RefSeq RNA:NM_152928, RefSeq RNA:NM_152929, RefSeq RNA:NM_152930, RefSeq RNA:NM_152931, RefSeq RNA:NR_037188, UCSC Genome Browser:NM_003915, UniProtKB:B0QZ18, UniProtKB:Q99829 No chr20 34213953 34252878 35626031 35664956 +PA26832 221184 HGNC:2315 ENSG00000140848 copine 2 CPNE2 copine II CPN2 Yes No Ensembl:ENSG00000140848, GenAtlas:CPNE2, GeneCard:CPNE2, HGNC:HGNC:2315, HumanCyc Gene:HS13848, ModBase:Q96FN4, NCBI Gene:221184, OMIM:604206, RefSeq DNA:NT_010498, RefSeq Protein:NP_689940, RefSeq RNA:NM_152727, UCSC Genome Browser:NM_152727, UniProtKB:Q96FN4 No chr16 57126455 57182281 57092543 57147966 +PA26833 8895 HGNC:2316 ENSG00000085719 copine 3 CPNE3 copine III Yes No Comparative Toxicogenomics Database:8895, Ensembl:ENSG00000085719, GenAtlas:CPNE3, GeneCard:CPNE3, HGNC:HGNC:2316, HumanCyc Gene:HS01503, ModBase:O75131, NCBI Gene:8895, OMIM:604207, RefSeq DNA:NT_008046, RefSeq Protein:NP_003900, RefSeq RNA:NM_003909, UCSC Genome Browser:NM_003909, UniProtKB:O75131, UniProtKB:Q05DL8 No chr8 87526656 87573726 86514423 86561498 +PA26834 131034 HGNC:2317 ENSG00000196353 copine 4 CPNE4 copine 8, copine IV COPN4, CPN4 Yes No Ensembl:ENSG00000196353, GenAtlas:CPNE4, GeneCard:CPNE4, HGNC:HGNC:2317, ModBase:Q96A23, NCBI Gene:131034, OMIM:604208, RefSeq DNA:NT_005612, RefSeq Protein:NP_570720, RefSeq RNA:NM_130808, UCSC Genome Browser:NM_130808, UniProtKB:Q96A23 No chr3 131252413 131759152 131533560 132285702 +PA26835 57699 HGNC:2318 ENSG00000124772 copine 5 CPNE5 copine V COPN5, CPN5, KIAA1599 Yes No Comparative Toxicogenomics Database:57699, Ensembl:ENSG00000124772, GenAtlas:CPNE5, GeneCard:CPNE5, HGNC:HGNC:2318, HumanCyc Gene:HS13144, ModBase:Q9HCH3, NCBI Gene:57699, OMIM:604209, RefSeq DNA:NT_007592, RefSeq Protein:NP_065990, RefSeq RNA:NM_020939, UCSC Genome Browser:NM_020939, UniProtKB:Q9HCH3 No chr6 36708549 36807220 36740773 36839444 +PA26836 9362 HGNC:2319 ENSG00000100884 copine 6 CPNE6 copine VI (neuronal), neuronal-copine N-copine, copine-6 Yes No Ensembl:ENSG00000100884, GenAtlas:CPNE6, GeneCard:CPNE6, HGNC:HGNC:2319, HumanCyc Gene:HS02158, ModBase:O95741, NCBI Gene:9362, OMIM:605688, RefSeq DNA:NT_026437, RefSeq Protein:NP_006023, RefSeq RNA:NM_006032, UCSC Genome Browser:NM_006032, UniProtKB:O95741 No chr14 24540046 24547309 24070837 24078100 +PA26837 27132 HGNC:2320 ENSG00000178773 copine 7 CPNE7 copine VII Yes No Comparative Toxicogenomics Database:27132, Ensembl:ENSG00000178773, GenAtlas:CPNE7, GeneCard:CPNE7, HGNC:HGNC:2320, HumanCyc Gene:HS10763, ModBase:Q9UBL6, NCBI Gene:27132, OMIM:605689, RefSeq DNA:NT_010542, RefSeq Protein:NP_055242, RefSeq Protein:NP_705900, RefSeq RNA:NM_014427, RefSeq RNA:NM_153636, UCSC Genome Browser:NM_014427, UniProtKB:Q9UBL6 No chr16 89642176 89663654 89575768 89597246 +PA134980029 144402 HGNC:23498 ENSG00000139117 copine 8 CPNE8 copine VIII Yes No Comparative Toxicogenomics Database:144402, Ensembl:ENSG00000139117, GeneCard:CPNE8, HGNC:HGNC:23498, HumanCyc Gene:HS13755, ModBase:Q86YQ8, NCBI Gene:144402, RefSeq DNA:NT_029419, RefSeq Protein:NP_705898, RefSeq RNA:NM_153634, UniProtKB:Q86VY2, UniProtKB:Q86YQ8 No chr12 39046002 39300395 38652200 38908593 +PA142672082 151835 HGNC:24336 ENSG00000144550 copine family member 9 CPNE9 copine family member IX KIAA4217 Yes No Ensembl:ENSG00000144550, GeneCard:CPNE9, HGNC:HGNC:24336, HumanCyc Gene:HS14032, ModBase:Q8IYJ1, NCBI Gene:151835, RefSeq DNA:NT_022517, RefSeq Protein:NP_705899, RefSeq RNA:NM_153635, UniProtKB:Q8IYJ1 No chr3 9745510 9771592 9703807 9729908 +PA164741367 130749 HGNC:21011 ENSG00000144410 carboxypeptidase O CPO metallocarboxypeptidase C, metallocarboxypeptidase O Yes No Ensembl:ENSG00000144410, GeneCard:CPO, HGNC:HGNC:21011, HumanCyc Gene:HS14021, ModBase:Q8IVL8, NCBI Gene:130749, OMIM:609563, RefSeq DNA:NT_005403, RefSeq Protein:NP_775100, RefSeq RNA:NM_173077, UniProtKB:Q8IVL8 No chr2 207804278 207834198 206932853 206971064 +PA134979958 1371 HGNC:2321 ENSG00000080819 coproporphyrinogen oxidase CPOX coproporphyria, homozygous coproporphyria CPO, CPX, HCP Yes No Comparative Toxicogenomics Database:1371, Ensembl:ENSG00000080819, GeneCard:CPOX, HGNC:HGNC:2321, HumanCyc Gene:HS01369, ModBase:P36551, NCBI Gene:1371, OMIM:121300, OMIM:612732, RefSeq DNA:NG_015994, RefSeq DNA:NT_005612, RefSeq Protein:NP_000088, RefSeq RNA:NM_000097, UniProtKB:P36551 No chr3 98296677 98312470 98568448 98593684 +PA26839 340451 HGNC:2322 ENSG00000253525 ceruloplasmin (ferroxidase) pseudogene CPP Yes No Ensembl:ENSG00000253525, GenAtlas:CPP, GeneCard:CPP, HGNC:HGNC:2322, NCBI Gene:340451, RefSeq DNA:NG_001106, RefSeq DNA:NT_008046 No chr8 92169506 92172150 91157278 91159922 +PA164718110 55313 HGNC:25632 ENSG00000103381 calcineurin like phosphoesterase domain containing 1 CPPED1 calcineurin-like phosphoesterase domain containing 1, complete S transactivated protein 1 CSTP1, FLJ11151 Yes Yes Ensembl:ENSG00000103381, GeneCard:CPPED1, HGNC:HGNC:25632, HumanCyc Gene:HS02498, NCBI Gene:55313, RefSeq DNA:NT_010393, RefSeq Protein:NP_001092925, RefSeq Protein:NP_060810, RefSeq RNA:NM_001099455, RefSeq RNA:NM_018340, UniProtKB:Q9BRF8 No chr16 12753656 12897744 12659799 12803887 +PA166048947 10404 HGNC:16910 ENSG00000104324 carboxypeptidase Q CPQ Ser-Met dipeptidase, lysosomal dipeptidase, plasma glutamate carboxypeptidase LDP, PGCP Yes No Ensembl:ENSG00000104324, HGNC:HGNC:16910, NCBI Gene:10404 No chr8 97657455 98155731 96645227 97143503 +PA26840 1373 HGNC:2323 ENSG00000021826 carbamoyl-phosphate synthase 1 CPS1 """carbamoyl-phosphate synthase (ammonia)"", ""carbamoyl-phosphate synthase 1, mitochondrial""" GATD6 Yes Yes Comparative Toxicogenomics Database:1373, Ensembl:ENSG00000021826, GenAtlas:CPS1, GeneCard:CPS1, HGNC:HGNC:2323, HumanCyc Gene:HS00415, ModBase:P31327, NCBI Gene:1373, OMIM:237300, OMIM:265380, OMIM:608307, RefSeq DNA:NG_008285, RefSeq DNA:NT_005403, RefSeq Protein:NP_001116105, RefSeq Protein:NP_001116106, RefSeq Protein:NP_001866, RefSeq RNA:NM_001122633, RefSeq RNA:NM_001122634, RefSeq RNA:NM_001875, UCSC Genome Browser:NM_001875, UniProtKB:P31327, UniProtKB:Q05CV6, UniProtKB:Q53TL5 No chr2 211342406 211543831 210477682 210679107 +PA165696455 29034 HGNC:30102 ENSG00000280837 CPS1 intronic transcript 1 (non-protein coding) CPS1-IT1 CPS1-IT, PRO0132 Yes No Ensembl:ENSG00000280837, GeneCard:CPS1IT1, HGNC:HGNC:30102, NCBI Gene:29034, RefSeq DNA:NT_005403, RefSeq RNA:NR_002763 No chr2 211482295 211484600 210617571 210619876 +PA26841 29894 HGNC:2324 ENSG00000071894 cleavage and polyadenylation specific factor 1 CPSF1 cleavage and polyadenylation specific factor 1, 160kDa CPSF160 Yes No Ensembl:ENSG00000071894, GenAtlas:CPSF1, GeneCard:CPSF1, HGNC:HGNC:2324, HumanCyc Gene:HS01044, ModBase:Q10570, NCBI Gene:29894, OMIM:606027, RefSeq DNA:NT_037704, RefSeq Protein:NP_037423, RefSeq RNA:NM_013291, UCSC Genome Browser:NM_013291, UniProtKB:Q10570 No chr8 145618446 145634733 144393231 144409400 +PA134861480 129099 HGNC:19251 ENSG00000214076 cleavage and polyadenylation specific factor 1, 160kDa pseudogene 1 CPSF1P1 dJ90G24.5 Yes No Ensembl:ENSG00000214076, GeneCard:CPSF1P1, HGNC:HGNC:19251, NCBI Gene:129099, RefSeq DNA:NG_005204, RefSeq DNA:NT_011520 No chr22 32665368 32669181 32269381 32273194 +PA26842 53981 HGNC:2325 ENSG00000165934 cleavage and polyadenylation specific factor 2 CPSF2 cleavage and polyadenylation specific factor 2, 100kDa CPSF100, KIAA1367 Yes No Comparative Toxicogenomics Database:53981, Ensembl:ENSG00000165934, GenAtlas:CPSF2, GeneCard:CPSF2, HGNC:HGNC:2325, HumanCyc Gene:HS09307, ModBase:Q9P2I0, NCBI Gene:53981, OMIM:606028, RefSeq DNA:NT_026437, RefSeq Protein:NP_059133, RefSeq RNA:NM_017437, UCSC Genome Browser:NM_017437, UniProtKB:Q9P2I0 No chr14 92588298 92630543 92121954 92164199 +PA26843 51692 HGNC:2326 ENSG00000119203 cleavage and polyadenylation specific factor 3 CPSF3 cleavage and polyadenylation specific factor 3, 73kDa CPSF-73, CPSF73, YSH1 Yes No Comparative Toxicogenomics Database:51692, Ensembl:ENSG00000119203, GenAtlas:CPSF3, GeneCard:CPSF3, HGNC:HGNC:2326, HumanCyc Gene:HS04280, ModBase:Q9UKF6, NCBI Gene:51692, OMIM:606029, RefSeq DNA:NT_005334, RefSeq Protein:NP_057291, RefSeq RNA:NM_016207, UCSC Genome Browser:NM_016207, UniProtKB:Q9UKF6 No chr2 9563666 9613239 9423537 9473110 +PA26844 10898 HGNC:2327 ENSG00000160917 cleavage and polyadenylation specific factor 4 CPSF4 cleavage and polyadenylation specific factor 4, 30kDa CPSF30, NAR Yes No Comparative Toxicogenomics Database:10898, Ensembl:ENSG00000160917, GenAtlas:CPSF4, GeneCard:CPSF4, HGNC:HGNC:2327, HumanCyc Gene:HS08551, ModBase:O95639, NCBI Gene:10898, OMIM:603052, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001075028, RefSeq Protein:NP_006684, RefSeq RNA:NM_001081559, RefSeq RNA:NM_006693, UCSC Genome Browser:NM_006693, UniProtKB:O95639 No chr7 99036563 99054996 99438920 99457377 +PA162382768 642843 HGNC:33632 ENSG00000187959 cleavage and polyadenylation specific factor 4 like CPSF4L cleavage and polyadenylation specific factor 4-like Yes No Ensembl:ENSG00000187959, GeneCard:CPSF4L, HGNC:HGNC:33632, NCBI Gene:642843, RefSeq DNA:NT_010783, RefSeq Protein:NP_001123357, RefSeq RNA:NM_001129885, UniProtKB:A6NMK7 No chr17 71244588 71258019 73242343 73263778 +PA26846 11052 HGNC:13871 ENSG00000111605 cleavage and polyadenylation specific factor 6 CPSF6 """cleavage and polyadenylation specific factor 6, 68kDa"", ""cleavage factor Im complex 68 kDa subunit""" CFIM, CFIM68, CFIM72, HPBRII-4, HPBRII-7 Yes No Comparative Toxicogenomics Database:11052, Ensembl:ENSG00000111605, GenAtlas:CPSF6, GeneCard:CPSF6, HGNC:HGNC:13871, HumanCyc Gene:HS03429, ModBase:Q16630, NCBI Gene:11052, OMIM:604979, RefSeq DNA:NT_029419, RefSeq Protein:NP_008938, RefSeq RNA:NM_007007, UCSC Genome Browser:NM_007007, UniProtKB:Q16630 No chr12 69633317 69668138 69239537 69274358 +PA165543380 79869 HGNC:30098 ENSG00000149532 cleavage and polyadenylation specific factor 7 CPSF7 """cleavage and polyadenylation specific factor 7, 59kDa"", ""cleavage factor Im complex 59 kDa subunit"", ""pre mRNA cleavage factor I, 59 kDa subunit""" CFIM59, FLJ12529 Yes No Ensembl:ENSG00000149532, GeneCard:CPSF7, HGNC:HGNC:30098, HumanCyc Gene:HS07622, NCBI Gene:79869, RefSeq DNA:NT_167190, RefSeq Protein:NP_001129512, RefSeq Protein:NP_001136037, RefSeq Protein:NP_079087, RefSeq RNA:NM_001136040, RefSeq RNA:NM_001142565, RefSeq RNA:NM_024811, UniProtKB:B4DGF8, UniProtKB:Q8N684 No chr11 61170120 61197464 61402648 61429992 +PA26847 1374 HGNC:2328 ENSG00000110090 carnitine palmitoyltransferase 1A CPT1A carnitine palmitoyltransferase 1A (liver) CPT1, CPT1-L, L-CPT1 Yes Yes Comparative Toxicogenomics Database:1374, Ensembl:ENSG00000110090, GenAtlas:CPT1A, GeneCard:CPT1A, HGNC:HGNC:2328, HumanCyc Gene:HS03286, ModBase:P50416, NCBI Gene:1374, OMIM:255120, OMIM:600528, RefSeq DNA:NG_011801, RefSeq DNA:NT_167190, RefSeq Protein:NP_001027017, RefSeq Protein:NP_001867, RefSeq RNA:NM_001031847, RefSeq RNA:NM_001876, UCSC Genome Browser:NM_001876, UniProtKB:B2RAQ8, UniProtKB:P50416, UniProtKB:Q8WZ48 No chr11 68522088 68611878 68754620 68844410 +PA26848 1375 HGNC:2329 ENSG00000205560 carnitine palmitoyltransferase 1B CPT1B carnitine O-palmitoyltransferase 1B, carnitine palmitoyltransferase 1B (muscle) CPT1-M, M-CPT1 Yes No Comparative Toxicogenomics Database:1375, Ensembl:ENSG00000205560, GenAtlas:CPT1B, GeneCard:CPT1B, HGNC:HGNC:2329, ModBase:Q92523, NCBI Gene:1375, OMIM:601987, RefSeq DNA:NG_003100, RefSeq DNA:NG_012643, RefSeq DNA:NT_011526, RefSeq Protein:NP_001138606, RefSeq Protein:NP_001138607, RefSeq Protein:NP_001138608, RefSeq Protein:NP_001138609, RefSeq Protein:NP_004368, RefSeq Protein:NP_689451, RefSeq Protein:NP_689452, RefSeq Protein:NP_689453, RefSeq RNA:NM_001145134, RefSeq RNA:NM_001145135, RefSeq RNA:NM_001145136, RefSeq RNA:NM_001145137, RefSeq RNA:NM_004377, RefSeq RNA:NM_152245, RefSeq RNA:NM_152246, RefSeq RNA:NM_152247, UCSC Genome Browser:NM_004377, UniProtKB:A5PLL0, UniProtKB:B7Z4U4, UniProtKB:B7Z5T8, UniProtKB:Q53FV7, UniProtKB:Q92523 No chr22 51007290 51017096 50568861 50578667 +PA134922321 126129 HGNC:18540 ENSG00000169169 carnitine palmitoyltransferase 1C CPT1C CATL1, CPT1P, CPTIC, FLJ23809 Yes No Comparative Toxicogenomics Database:126129, Ensembl:ENSG00000169169, GeneCard:CPT1C, HGNC:HGNC:18540, HumanCyc Gene:HS09892, ModBase:Q8TCG5, NCBI Gene:126129, OMIM:608846, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129524, RefSeq Protein:NP_001186681, RefSeq Protein:NP_001186682, RefSeq Protein:NP_689572, RefSeq RNA:NM_001136052, RefSeq RNA:NM_001199752, RefSeq RNA:NM_001199753, RefSeq RNA:NM_152359, UniProtKB:Q8TCG5 No chr19 50194363 50216988 49690672 49713731 +PA26849 1376 HGNC:2330 ENSG00000157184 carnitine palmitoyltransferase 2 CPT2 CPT1, CPTASE Yes No Comparative Toxicogenomics Database:1376, Ensembl:ENSG00000157184, GenAtlas:CPT2, GeneCard:CPT2, HGNC:HGNC:2330, HumanCyc Gene:HS08187, ModBase:P23786, NCBI Gene:1376, OMIM:255110, OMIM:600649, OMIM:600650, OMIM:608836, RefSeq DNA:NG_008035, RefSeq DNA:NT_032977, RefSeq Protein:NP_000089, RefSeq RNA:NM_000098, UCSC Genome Browser:NM_000098, UniProtKB:P23786 No chr1 53662101 53679869 53196429 53214197 +PA162389853 80772 HGNC:28116 ENSG00000224051 ceramide-1-phosphate transfer protein CPTP glycolipid transfer protein domain containing 1 GLTPD1, MGC10334 Yes No Ensembl:ENSG00000224051, GeneCard:GLTPD1, HGNC:HGNC:28116, ModBase:Q5TA50, NCBI Gene:80772, RefSeq DNA:NT_004350, RefSeq Protein:NP_001025056, RefSeq RNA:NM_001029885, UniProtKB:Q5TA50 No chr1 1260136 1264276 1324756 1328896 +PA26850 54504 HGNC:14399 ENSG00000106066 carboxypeptidase vitellogenic like CPVL """CP-Mac carboxypeptidase"", ""carboxypeptidase WUG"", ""carboxypeptidase, vitellogenic like"", ""carboxypeptidase, vitellogenic-like"", ""vitellogenic carboxypeptidase-like protein""" Yes No Comparative Toxicogenomics Database:54504, Ensembl:ENSG00000106066, GenAtlas:CPVL, GeneCard:CPVL, HGNC:HGNC:14399, HumanCyc Gene:HS02856, ModBase:Q9H3G5, NCBI Gene:54504, OMIM:609780, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_061902, RefSeq Protein:NP_112601, RefSeq RNA:NM_019029, RefSeq RNA:NM_031311, UCSC Genome Browser:NM_019029, UCSC Genome Browser:NM_031311, UniProtKB:Q9H3G5 No chr7 29035247 29225213 28995630 29146537 +PA26852 53336 HGNC:2332 ENSG00000147183 CPX chromosome region candidate 1 CPXCR1 """CPX chromosome region, candidate 1"", ""cancer/testis antigen 77""" CT77 Yes No Ensembl:ENSG00000147183, GenAtlas:CPXCR1, GeneCard:CPXCR1, HGNC:HGNC:2332, HumanCyc Gene:HS14197, ModBase:Q8N123, NCBI Gene:53336, RefSeq DNA:NG_021312, RefSeq DNA:NT_011651, RefSeq Protein:NP_001171700, RefSeq Protein:NP_149037, RefSeq RNA:NM_001184771, RefSeq RNA:NM_033048, UCSC Genome Browser:NM_033048, UniProtKB:Q8N123 No chrX 88002226 88009786 88747225 88754785 +PA162382779 56265 HGNC:15771 ENSG00000088882 carboxypeptidase X, M14 family member 1 CPXM1 """carboxypeptidase X (M14 family), member 1"", ""carboxypeptidase-like protein X1""" CPX-1, CPX1, CPXM Yes No Ensembl:ENSG00000088882, GeneCard:CPXM1, HGNC:HGNC:15771, HumanCyc Gene:HS01615, ModBase:Q96SM3, NCBI Gene:56265, OMIM:609555, RefSeq DNA:NT_011387, RefSeq Protein:NP_001171628, RefSeq Protein:NP_062555, RefSeq RNA:NM_001184699, RefSeq RNA:NM_019609, UniProtKB:Q96SM3 No chr20 2774715 2781292 2794069 2800646 +PA134866722 119587 HGNC:26977 ENSG00000121898 carboxypeptidase X, M14 family member 2 CPXM2 """carboxypeptidase X (M14 family), member 2"", ""cytosolic carboxypeptidase""" CPX2, UNQ676 Yes No Comparative Toxicogenomics Database:119587, Ensembl:ENSG00000121898, GeneCard:CPXM2, HGNC:HGNC:26977, ModBase:Q8N436, NCBI Gene:119587, RefSeq DNA:NT_030059, RefSeq Protein:NP_937791, RefSeq RNA:NM_198148, UniProtKB:Q8N436 No chr10 125505152 125651500 123745636 123944094 +PA26854 8532 HGNC:2333 ENSG00000109625 carboxypeptidase Z CPZ metallocarboxypeptidase Z Yes No Comparative Toxicogenomics Database:8532, Ensembl:ENSG00000109625, GenAtlas:CPZ, GeneCard:CPZ, HGNC:HGNC:2333, HumanCyc Gene:HS03244, ModBase:Q66K79, NCBI Gene:8532, OMIM:603105, RefSeq DNA:NT_006051, RefSeq Protein:NP_001014447, RefSeq Protein:NP_001014448, RefSeq Protein:NP_003643, RefSeq RNA:NM_001014447, RefSeq RNA:NM_001014448, RefSeq RNA:NM_003652, UCSC Genome Browser:NM_003652, UniProtKB:Q66K79 No chr4 8594387 8621488 8592660 8619761 +PA26855 1378 HGNC:2334 ENSG00000203710 complement C3b/C4b receptor 1 (Knops blood group) CR1 complement component (3b/4b) receptor 1 (Knops blood group) CD35, KN Yes Yes Comparative Toxicogenomics Database:1378, Ensembl:ENSG00000203710, GenAtlas:CR1, GeneCard:CR1, HGNC:HGNC:2334, HumanCyc Gene:HS10126, NCBI Gene:1378, OMIM:120620, OMIM:607486, OMIM:611162, RefSeq DNA:NG_007481, RefSeq DNA:NT_167186, RefSeq Protein:NP_000564, RefSeq Protein:NP_000642, RefSeq RNA:NM_000573, RefSeq RNA:NM_000651, UCSC Genome Browser:NM_000573, UniProtKB:P17927 No chr1 207669473 207815110 207496128 207641765 +PA26856 1379 HGNC:2335 ENSG00000197721 complement C3b/C4b receptor 1 like CR1L complement component (3b/4b) receptor 1-like Yes Yes Comparative Toxicogenomics Database:1379, Ensembl:ENSG00000197721, GenAtlas:CR1L, GeneCard:CR1L, HGNC:HGNC:2335, HumanCyc Gene:HS14985, NCBI Gene:1379, OMIM:605886, RefSeq DNA:NT_167186, RefSeq Protein:NP_783641, RefSeq RNA:NM_175710, UniProtKB:Q2VPA4 No chr1 207818458 207897036 207645113 207723691 +PA26857 1380 HGNC:2336 ENSG00000117322 complement C3d receptor 2 CR2 Epstein-Barr virus receptor, complement component (3d/Epstein Barr virus) receptor 2 C3DR, CD21 Yes No Comparative Toxicogenomics Database:1380, Ensembl:ENSG00000117322, GenAtlas:CR2, GeneCard:CR2, HGNC:HGNC:2336, HumanCyc Gene:HS04119, ModBase:P20023, NCBI Gene:1380, OMIM:120650, OMIM:610927, RefSeq DNA:NG_013006, RefSeq DNA:NT_167186, RefSeq Protein:NP_001006659, RefSeq Protein:NP_001868, RefSeq RNA:NM_001006658, RefSeq RNA:NM_001877, UCSC Genome Browser:NM_001877, UniProtKB:P20023, UniProtKB:Q53EL2, UniProtKB:Q5SR46 No chr1 207627645 207663240 207454300 207489895 +PA26858 1381 HGNC:2338 ENSG00000166426 cellular retinoic acid binding protein 1 CRABP1 CRABP, CRABP-I, CRABPI, RBP5 Yes No Comparative Toxicogenomics Database:1381, Ensembl:ENSG00000166426, GenAtlas:CRABP1, GeneCard:CRABP1, HGNC:HGNC:2338, HumanCyc Gene:HS09395, ModBase:P29762, NCBI Gene:1381, OMIM:180230, RefSeq DNA:NT_010194, RefSeq Protein:NP_004369, RefSeq RNA:NM_004378, UCSC Genome Browser:NM_004378, UniProtKB:P29762 No chr15 78632666 78640572 78340324 78348230 +PA26859 1382 HGNC:2339 ENSG00000143320 cellular retinoic acid binding protein 2 CRABP2 CRABP-II Yes No Comparative Toxicogenomics Database:1382, Ensembl:ENSG00000143320, GenAtlas:CRABP2, GeneCard:CRABP2, HGNC:HGNC:2339, HumanCyc Gene:HS07025, ModBase:P29373, NCBI Gene:1382, OMIM:180231, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186652, RefSeq Protein:NP_001869, RefSeq RNA:NM_001199723, RefSeq RNA:NM_001878, UCSC Genome Browser:NM_001878, UniProtKB:P29373 No chr1 156669398 156675608 156699606 156712900 +PA166352430 57482 HGNC:29219 capping protein inhibiting regulator of actin dynamics CRACD KIAA1211, cancer-related regulator of actin dynamics CRAD Yes No HGNC:HGNC:29219, NCBI Gene:57482 No 0 0 0 0 +PA166352431 343990 HGNC:33454 CRACD like CRACDL C2orf55, KIAA1211L MGC42367 Yes No HGNC:HGNC:33454, NCBI Gene:343990 No 0 0 0 0 +PA144596438 84766 HGNC:28657 ENSG00000130038 calcium release activated channel regulator 2A CRACR2A CRAC regulator 2A, Ca2+ release-activated Ca2+ (CRAC) channel regulator 2A, EF-hand calcium binding domain 4B EFCAB4B, MGC4266, RAB46 Yes No Ensembl:ENSG00000130038, GeneCard:EFCAB4B, HGNC:HGNC:28657, HumanCyc Gene:HS05334, ModBase:Q9BSW2, NCBI Gene:84766, RefSeq DNA:NT_009759, RefSeq Protein:NP_001138430, RefSeq Protein:NP_001138431, RefSeq Protein:NP_116069, RefSeq RNA:NM_001144958, RefSeq RNA:NM_001144959, RefSeq RNA:NM_032680, UniProtKB:Q9BSW2 No chr12 3722122 3862366 3613366 3753216 +PA144596437 283229 HGNC:28703 ENSG00000177685 calcium release activated channel regulator 2B CRACR2B CRAC regulator 2B, Ca2+ release-activated Ca2+ (CRAC) channel regulator 2B, EF-hand calcium binding domain 4A EFCAB4A, MGC45840 Yes No Ensembl:ENSG00000177685, GeneCard:EFCAB4A, HGNC:HGNC:28703, HumanCyc Gene:HS11202, ModBase:Q8N4Y2, NCBI Gene:283229, RefSeq DNA:NT_009237, RefSeq Protein:NP_775855, RefSeq RNA:NM_173584, UniProtKB:Q8N4Y2 No chr11 826144 831991 825558 831991 +PA26860 8738 HGNC:2340 ENSG00000169372 CASP2 and RIPK1 domain containing adaptor with death domain CRADD RIP-associated ICH1/CED3-homologous protein with death domain RAIDD Yes No Comparative Toxicogenomics Database:8738, Ensembl:ENSG00000169372, GenAtlas:CRADD, GeneCard:CRADD, HGNC:HGNC:2340, HumanCyc Gene:HS09935, ModBase:P78560, NCBI Gene:8738, OMIM:603454, RefSeq DNA:NT_029419, RefSeq Protein:NP_003796, RefSeq RNA:NM_003805, UCSC Genome Browser:NM_003805, UniProtKB:P78560, UniProtKB:Q53XL1 No chr12 94071121 94289530 93677342 93894840 +PA26861 57585 HGNC:14122 ENSG00000007545 cramped chromatin regulator homolog 1 CRAMP1 Crm, cramped-like (Drosophila) CRAMP1L, KIAA1426 Yes No Ensembl:ENSG00000007545, GenAtlas:CRAMP1L, GeneCard:CRAMP1L, HGNC:HGNC:14122, NCBI Gene:57585, RefSeq DNA:NT_010393, RefSeq Protein:NP_065876, RefSeq RNA:NM_020825, UniProtKB:A7MD53, UniProtKB:B1AJY1, UniProtKB:B2RNX8 No chr16 1662495 1727909 1614640 1677908 +PA26862 1384 HGNC:2342 ENSG00000095321 carnitine O-acetyltransferase CRAT CAT1 Yes No Comparative Toxicogenomics Database:1384, Ensembl:ENSG00000095321, GenAtlas:CRAT, GeneCard:CRAT, HGNC:HGNC:2342, HumanCyc Gene:HS01816, ModBase:P43155, NCBI Gene:1384, OMIM:600184, RefSeq DNA:NT_008470, RefSeq Protein:NP_000746, RefSeq Protein:NP_003994, RefSeq RNA:NM_000755, RefSeq RNA:NM_004003, RefSeq RNA:NR_028048, UCSC Genome Browser:NM_000755, UniProtKB:P43155 No chr9 131857073 131873070 129094794 129110791 +PA26863 23418 HGNC:2343 ENSG00000134376 crumbs cell polarity complex component 1 CRB1 """crumbs 1, cell polarity complex component"", ""crumbs family member 1, photoreceptor morphogenesis associated"", ""crumbs homolog 1 (Drosophila)""" LCA8, RP12 Yes No Comparative Toxicogenomics Database:23418, Ensembl:ENSG00000134376, GenAtlas:CRB1, GeneCard:CRB1, HGNC:HGNC:2343, HumanCyc Gene:HS05864, ModBase:P82279, NCBI Gene:23418, OMIM:172870, OMIM:600105, OMIM:604210, RefSeq DNA:NG_008483, RefSeq DNA:NT_004487, RefSeq Protein:NP_001180569, RefSeq Protein:NP_957705, RefSeq RNA:NM_001193640, RefSeq RNA:NM_201253, UCSC Genome Browser:NM_012076, UniProtKB:P82279 No chr1 197170592 197447585 197201462 197478455 +PA134910460 286204 HGNC:18688 ENSG00000148204 crumbs cell polarity complex component 2 CRB2 """crumbs 2, cell polarity complex component"", ""crumbs family member 2"", ""crumbs homolog 2 (Drosophila)""" FLJ16786, FLJ38464 Yes No Ensembl:ENSG00000148204, GeneCard:CRB2, HGNC:HGNC:18688, HumanCyc Gene:HS14235, ModBase:Q5IJ48, NCBI Gene:286204, OMIM:609720, RefSeq DNA:NT_008470, RefSeq Protein:NP_775960, RefSeq RNA:NM_173689, UniProtKB:Q5IJ48 No chr9 126118448 126141034 123354065 123380335 +PA134862130 92359 HGNC:20237 ENSG00000130545 crumbs cell polarity complex component 3 CRB3 """crumbs 3, cell polarity complex component"", ""crumbs family member 3"", ""crumbs homolog 3 (Drosophila)""" MGC17303 Yes No Comparative Toxicogenomics Database:92359, Ensembl:ENSG00000130545, GeneCard:CRB3, HGNC:HGNC:20237, HumanCyc Gene:HS13336, NCBI Gene:92359, OMIM:609737, RefSeq DNA:NT_011255, RefSeq Protein:NP_631900, RefSeq Protein:NP_777377, RefSeq RNA:NM_139161, RefSeq RNA:NM_174881, UniProtKB:Q9BUF7 No chr19 6463788 6467232 6463777 6467221 +PA134926851 51185 HGNC:30185 ENSG00000113851 cereblon CRBN MRT2, MRT2A Yes Yes Comparative Toxicogenomics Database:51185, Ensembl:ENSG00000113851, GeneCard:CRBN, HGNC:HGNC:30185, HumanCyc Gene:HS03724, ModBase:Q96SW2, NCBI Gene:51185, OMIM:607417, OMIM:609262, RefSeq DNA:NG_016864, RefSeq DNA:NT_022517, RefSeq Protein:NP_001166953, RefSeq Protein:NP_057386, RefSeq RNA:NM_001173482, RefSeq RNA:NM_016302, UniProtKB:Q96SW2 No chr3 3191317 3221401 3148490 3179717 +PA164718123 27297 HGNC:17888 ENSG00000241258 CGRP receptor component CRCP calcitonin gene-related peptide-receptor component protein C17, CGRP-RCP, POLR3I, RCP, RCP9 Yes Yes Ensembl:ENSG00000241258, GeneCard:CRCP, HGNC:HGNC:17888, HumanCyc Gene:HS05025, NCBI Gene:27297, OMIM:606121, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001035737, RefSeq Protein:NP_001035738, RefSeq Protein:NP_001135886, RefSeq Protein:NP_055293, RefSeq RNA:NM_001040647, RefSeq RNA:NM_001040648, RefSeq RNA:NM_001142414, RefSeq RNA:NM_014478, RefSeq RNA:NR_024548, UniProtKB:A8MUZ4, UniProtKB:B4E198, UniProtKB:O75575 No chr7 65579805 65619555 66114818 66154568 +PA162382812 54544 HGNC:29875 ENSG00000169509 cysteine rich C-terminal 1 CRCT1 cysteine-rich C-terminal 1 C1orf42, NICE-1 Yes No Ensembl:ENSG00000169509, GeneCard:CRCT1, HGNC:HGNC:29875, HumanCyc Gene:HS15779, ModBase:Q9UGL9, NCBI Gene:54544, RefSeq DNA:NT_004487, RefSeq Protein:NP_061933, RefSeq RNA:NM_019060, UniProtKB:Q9UGL9 No chr1 152486978 152488481 152514502 152516010 +PA26864 1385 HGNC:2345 ENSG00000118260 cAMP responsive element binding protein 1 CREB1 Yes Yes Comparative Toxicogenomics Database:1385, Ensembl:ENSG00000118260, GenAtlas:CREB1, GeneCard:CREB1, HGNC:HGNC:2345, HumanCyc Gene:HS04206, ModBase:P16220, NCBI Gene:1385, OMIM:123810, OMIM:612160, RefSeq DNA:NG_023299, RefSeq DNA:NT_005403, RefSeq Protein:NP_004370, RefSeq Protein:NP_604391, RefSeq RNA:NM_004379, RefSeq RNA:NM_134442, UCSC Genome Browser:NM_004379, UniProtKB:P16220, UniProtKB:Q53X93, UniProtKB:Q5U0J5 No chr2 208394616 208470284 207529892 207605989 +PA26865 10488 HGNC:2347 ENSG00000107175 cAMP responsive element binding protein 3 CREB3 small leucine zipper protein LZIP, Luman, sLZIP Yes No Comparative Toxicogenomics Database:10488, Ensembl:ENSG00000107175, GenAtlas:CREB3, GeneCard:CREB3, HGNC:HGNC:2347, HumanCyc Gene:HS02977, ModBase:O43889, NCBI Gene:10488, OMIM:606443, RefSeq DNA:NT_008413, RefSeq Protein:NP_006359, RefSeq RNA:NM_006368, UCSC Genome Browser:NM_006368, UniProtKB:O43889 No chr9 35732317 35737005 35732320 35737008 +PA134960108 90993 HGNC:18856 ENSG00000157613 cAMP responsive element binding protein 3 like 1 CREB3L1 BBF-2 homolog (drosophila), cAMP responsive element binding protein 3-like 1, old astrocyte specifically induced substance OASIS Yes No Comparative Toxicogenomics Database:90993, Ensembl:ENSG00000157613, GeneCard:CREB3L1, HGNC:HGNC:18856, HumanCyc Gene:HS08229, ModBase:Q96BA8, NCBI Gene:90993, RefSeq DNA:NT_009237, RefSeq Protein:NP_443086, RefSeq RNA:NM_052854, UniProtKB:Q96BA8 No chr11 46299189 46342972 46277638 46321422 +PA134914841 64764 HGNC:23720 ENSG00000182158 cAMP responsive element binding protein 3 like 2 CREB3L2 BBF2 human homolog on chromosome 7, cAMP responsive element binding protein 3-like 2 BBF2H7, TCAG_1951439 Yes No Comparative Toxicogenomics Database:64764, Ensembl:ENSG00000182158, GeneCard:CREB3L2, HGNC:HGNC:23720, NCBI Gene:64764, OMIM:608834, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_919047, RefSeq RNA:NM_194071, UniProtKB:Q70SY1 No chr7 137559725 137686847 137874979 138002101 +PA134882161 84699 HGNC:18855 ENSG00000060566 cAMP responsive element binding protein 3 like 3 CREB3L3 """cAMP responsive element binding protein 3-like 3"", ""cAMP-responsive element-binding protein, hepatic-specific""" CREB-H, CREBH Yes No Comparative Toxicogenomics Database:84699, Ensembl:ENSG00000060566, GeneCard:CREB3L3, HGNC:HGNC:18855, HumanCyc Gene:HS00746, ModBase:Q68CJ9, NCBI Gene:84699, OMIM:611998, RefSeq DNA:NT_011255, RefSeq Protein:NP_115996, RefSeq RNA:NM_032607, UniProtKB:Q68CJ9 No chr19 4153598 4173051 4153601 4173054 +PA134922919 148327 HGNC:18854 ENSG00000143578 cAMP responsive element binding protein 3 like 4 CREB3L4 Androgen-Induced bZIP, Cyclic AMP-responsive element-binding protein 4, attaching to CRE-like 1, cAMP responsive element binding protein 3-like 4 AIbZIP, ATCE1, CREB3, CREB4, hJAL Yes No Ensembl:ENSG00000143578, GeneCard:CREB3L4, HGNC:HGNC:18854, HumanCyc Gene:HS07081, ModBase:Q8TEY5, NCBI Gene:148327, OMIM:607138, RefSeq DNA:NT_004487, RefSeq Protein:NP_570968, RefSeq RNA:NM_130898, UniProtKB:Q8TEY5 No chr1 153940315 153946840 153967679 153974364 +PA134930491 9586 HGNC:16844 ENSG00000146592 cAMP responsive element binding protein 5 CREB5 cAMP response element binding protein CRE-Bpa CRE-BPA, H_GS165L15.1 Yes No Comparative Toxicogenomics Database:9586, Ensembl:ENSG00000146592, GeneCard:CREB5, HGNC:HGNC:16844, HumanCyc Gene:HS07357, NCBI Gene:9586, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001011666, RefSeq Protein:NP_004895, RefSeq Protein:NP_878901, RefSeq Protein:NP_878902, RefSeq RNA:NM_001011666, RefSeq RNA:NM_004904, RefSeq RNA:NM_182898, RefSeq RNA:NM_182899, UniProtKB:B4DU13, UniProtKB:B5BUH3, UniProtKB:Q02930, UniProtKB:Q59G47 No chr7 28338940 28865511 28299321 28825894 +PA26866 1387 HGNC:2348 ENSG00000005339 CREB binding protein CREBBP CBP, KAT3A, RSTS, RTS Yes No Comparative Toxicogenomics Database:1387, Ensembl:ENSG00000005339, GenAtlas:CREBBP, GeneCard:CREBBP, HGNC:HGNC:2348, HumanCyc Gene:HS00138, ModBase:Q92793, NCBI Gene:1387, OMIM:180849, OMIM:600140, RefSeq DNA:NG_009873, RefSeq DNA:NT_010393, RefSeq Protein:NP_001073315, RefSeq Protein:NP_004371, RefSeq RNA:NM_001079846, RefSeq RNA:NM_004380, UCSC Genome Browser:NM_004380, UniProtKB:Q4LE28, UniProtKB:Q92793 No chr16 3775055 3930121 3725054 3880727 +PA26868 1389 HGNC:2350 ENSG00000111269 cAMP responsive element binding protein like 2 CREBL2 cAMP responsive element binding protein-like 2 Yes No Ensembl:ENSG00000111269, GenAtlas:CREBL2, GeneCard:CREBL2, HGNC:HGNC:2350, HumanCyc Gene:HS03393, ModBase:O60519, NCBI Gene:1389, OMIM:603476, RefSeq DNA:NT_009714, RefSeq Protein:NP_001301, RefSeq RNA:NM_001310, UCSC Genome Browser:NM_001310, UniProtKB:O60519 No chr12 12764831 12798041 12611833 12645108 +PA162380187 153222 HGNC:24050 ENSG00000164463 CREB3 regulatory factor CREBRF luman/CREB3 recruitment factor C5orf41, LRF Yes No Ensembl:ENSG00000164463, GeneCard:C5orf41, HGNC:HGNC:24050, HumanCyc Gene:HS15199, NCBI Gene:153222, RefSeq DNA:NT_023133, RefSeq Protein:NP_001161865, RefSeq Protein:NP_001161866, RefSeq Protein:NP_705835, RefSeq RNA:NM_001168393, RefSeq RNA:NM_001168394, RefSeq RNA:NM_153607, UniProtKB:Q8IUR6 No chr5 172483355 172566291 173056349 173139288 +PA162382821 58487 HGNC:24905 ENSG00000137504 CREB/ATF bZIP transcription factor CREBZF Zhangfei, small heterodimer partner-interacting leucine zipper SMILE, ZF Yes No Ensembl:ENSG00000137504, GeneCard:CREBZF, HGNC:HGNC:24905, HumanCyc Gene:HS06354, ModBase:Q9NS37, NCBI Gene:58487, OMIM:606444, RefSeq DNA:NT_167190, RefSeq Protein:NP_001034707, RefSeq RNA:NM_001039618, RefSeq RNA:NR_028024, RefSeq RNA:NR_028025, RefSeq RNA:NR_028026, RefSeq RNA:NR_028027, UniProtKB:Q9NS37 No chr11 85368608 85376182 85657564 85665148 +PA26869 8804 HGNC:2351 ENSG00000143162 cellular repressor of E1A stimulated genes 1 CREG1 cellular repressor of E1A-stimulated genes 1 CREG Yes No Comparative Toxicogenomics Database:8804, Ensembl:ENSG00000143162, GenAtlas:CREG1, GeneCard:CREG1, HGNC:HGNC:2351, HumanCyc Gene:HS06998, ModBase:O75629, NCBI Gene:8804, RefSeq DNA:NT_004487, RefSeq Protein:NP_003842, RefSeq RNA:NM_003851, UCSC Genome Browser:NM_003851, UniProtKB:O75629 No chr1 167510250 167523056 167541013 167553819 +PA134876243 200407 HGNC:14272 ENSG00000175874 cellular repressor of E1A stimulated genes 2 CREG2 cellular repressor of E1A-stimulated genes 2 Yes No Comparative Toxicogenomics Database:200407, Ensembl:ENSG00000175874, GeneCard:CREG2, HGNC:HGNC:14272, HumanCyc Gene:HS16533, ModBase:Q8IUH2, NCBI Gene:200407, RefSeq DNA:NT_022171, RefSeq Protein:NP_722578, RefSeq RNA:NM_153836, UniProtKB:Q8IUH2 No chr2 101964816 102003965 101348354 101387970 +PA26870 78987 HGNC:14630 ENSG00000163703 cysteine rich with EGF like domains 1 CRELD1 cysteine-rich with EGF-like domains 1 AVSD2, CIRRIN Yes No Comparative Toxicogenomics Database:78987, Ensembl:ENSG00000163703, GenAtlas:CRELD1, GeneCard:CRELD1, HGNC:HGNC:14630, HumanCyc Gene:HS08917, ModBase:Q96HD1, NCBI Gene:78987, OMIM:606217, OMIM:607170, RefSeq DNA:NG_017069, RefSeq DNA:NT_022517, RefSeq Protein:NP_001026887, RefSeq Protein:NP_001070883, RefSeq Protein:NP_056328, RefSeq RNA:NM_001031717, RefSeq RNA:NM_001077415, RefSeq RNA:NM_015513, UCSC Genome Browser:NM_015513, UniProtKB:Q96HD1 No chr3 9975478 9987097 9933788 9945413 +PA142672079 79174 HGNC:28150 ENSG00000184164 cysteine rich with EGF like domains 2 CRELD2 cysteine-rich with EGF-like domains 2 MGC11256 Yes No Comparative Toxicogenomics Database:79174, Ensembl:ENSG00000184164, GeneCard:CRELD2, HGNC:HGNC:28150, ModBase:Q6UXH1, NCBI Gene:79174, OMIM:607171, RefSeq DNA:NT_011520, RefSeq Protein:NP_001128573, RefSeq Protein:NP_077300, RefSeq RNA:NM_001135101, RefSeq RNA:NM_024324, UniProtKB:Q6UXH1 No chr22 50312283 50321188 49918630 49927540 +PA26871 1390 HGNC:2352 ENSG00000095794 cAMP responsive element modulator CREM hCREM-2 Yes No Comparative Toxicogenomics Database:1390, Ensembl:ENSG00000095794, GenAtlas:CREM, GeneCard:CREM, HGNC:HGNC:2352, HumanCyc Gene:HS01835, NCBI Gene:1390, OMIM:123812, RefSeq DNA:NT_008705, RefSeq Protein:NP_001872, RefSeq Protein:NP_853549, RefSeq Protein:NP_874386, RefSeq Protein:NP_874387, RefSeq Protein:NP_874388, RefSeq Protein:NP_874389, RefSeq Protein:NP_874390, RefSeq Protein:NP_874391, RefSeq Protein:NP_874392, RefSeq Protein:NP_874393, RefSeq Protein:NP_874394, RefSeq Protein:NP_877570, RefSeq Protein:NP_877571, RefSeq Protein:NP_877572, RefSeq Protein:NP_877573, RefSeq Protein:NP_878270, RefSeq Protein:NP_878273, RefSeq Protein:NP_898829, RefSeq Protein:NP_898830, RefSeq Protein:NP_898831, RefSeq Protein:NP_898883, RefSeq RNA:NM_001881, RefSeq RNA:NM_181571, RefSeq RNA:NM_182717, RefSeq RNA:NM_182718, RefSeq RNA:NM_182719, RefSeq RNA:NM_182720, RefSeq RNA:NM_182721, RefSeq RNA:NM_182722, RefSeq RNA:NM_182723, RefSeq RNA:NM_182724, RefSeq RNA:NM_182725, RefSeq RNA:NM_182769, RefSeq RNA:NM_182770, RefSeq RNA:NM_182771, RefSeq RNA:NM_182772, RefSeq RNA:NM_182850, RefSeq RNA:NM_182853, RefSeq RNA:NM_183011, RefSeq RNA:NM_183012, RefSeq RNA:NM_183013, RefSeq RNA:NM_183060, UCSC Genome Browser:NM_001881, UCSC Genome Browser:NM_183060, UniProtKB:A8K014, UniProtKB:A8K3J7, UniProtKB:A8K6A1, UniProtKB:A8MPQ2, UniProtKB:Q03060, UniProtKB:Q14501, UniProtKB:Q5W1A7, UniProtKB:Q5W1B0, UniProtKB:Q5W1B2, UniProtKB:Q96AG7 No chr10 35415769 35501886 35126841 35212958 +PA119 1392 HGNC:2355 ENSG00000147571 corticotropin releasing hormone CRH corticoliberin, corticotropin-releasing factor CRF, CRH1 Yes Yes Comparative Toxicogenomics Database:1392, Ensembl:ENSG00000147571, GenAtlas:CRH, GeneCard:CRH, HGNC:HGNC:2355, HumanCyc Gene:HS07448, ModBase:P06850, NCBI Gene:1392, OMIM:122560, OMIM:201400, RefSeq DNA:NG_016127, RefSeq DNA:NT_008183, RefSeq Protein:NP_000747, RefSeq RNA:NM_000756, UCSC Genome Browser:NM_000756, UniProtKB:P06850 No chr8 67088612 67090846 66176377 66186685 +PA26873 1393 HGNC:2356 ENSG00000145708 corticotropin releasing hormone binding protein CRHBP CRF-BP, CRFBP Yes Yes Comparative Toxicogenomics Database:1393, Ensembl:ENSG00000145708, GenAtlas:CRHBP, GeneCard:CRHBP, HGNC:HGNC:2356, HumanCyc Gene:HS07275, ModBase:P24387, NCBI Gene:1393, OMIM:122559, RefSeq DNA:NT_006713, RefSeq Protein:NP_001873, RefSeq RNA:NM_001882, UCSC Genome Browser:NM_001882, UniProtKB:P24387 No chr5 76248680 76265299 76952713 76981143 +PA26874 1394 HGNC:2357 ENSG00000120088, ENSG00000226460 corticotropin releasing hormone receptor 1 CRHR1 corticotropin-releasing factor receptor CRF-R, CRF1, CRHR Yes Yes Comparative Toxicogenomics Database:1394, Ensembl:ENSG00000120088, Ensembl:ENSG00000226460, GenAtlas:CRHR1, GeneCard:CRHR1, HGNC:HGNC:2357, HumanCyc Gene:HS04368, IUPHAR Receptor:212, ModBase:P34998, NCBI Gene:1394, OMIM:122561, RefSeq DNA:NG_009902, RefSeq DNA:NT_010783, RefSeq DNA:NT_167251, RefSeq Protein:NP_001138618, RefSeq Protein:NP_001138619, RefSeq Protein:NP_001138620, RefSeq Protein:NP_004373, RefSeq Protein:XP_003403661, RefSeq Protein:XP_003403662, RefSeq RNA:NM_001145146, RefSeq RNA:NM_001145147, RefSeq RNA:NM_001145148, RefSeq RNA:NM_004382, RefSeq RNA:NR_037772, RefSeq RNA:XM_003403613, RefSeq RNA:XM_003403614, UCSC Genome Browser:NM_004382, UniProtKB:P34998 No chr17 43697710 43913194 45784280 45835828 +PA26875 1395 HGNC:2358 ENSG00000106113 corticotropin releasing hormone receptor 2 CRHR2 CRF-RB, CRF2, HM-CRF Yes Yes Comparative Toxicogenomics Database:1395, Ensembl:ENSG00000106113, GenAtlas:CRHR2, GeneCard:CRHR2, HGNC:HGNC:2358, HumanCyc Gene:HS02864, IUPHAR Receptor:213, ModBase:Q13324, NCBI Gene:1395, OMIM:602034, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001189404, RefSeq Protein:NP_001189410, RefSeq Protein:NP_001189411, RefSeq Protein:NP_001189412, RefSeq Protein:NP_001874, RefSeq RNA:NM_001202475, RefSeq RNA:NM_001202481, RefSeq RNA:NM_001202482, RefSeq RNA:NM_001202483, RefSeq RNA:NM_001883, UCSC Genome Browser:NM_001883, UniProtKB:Q13324 No chr7 30691559 30739719 30651844 30700103 +PA26877 51232 HGNC:2359 ENSG00000150938 cysteine rich transmembrane BMP regulator 1 CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like) S52 Yes No Comparative Toxicogenomics Database:51232, Ensembl:ENSG00000150938, GenAtlas:CRIM1, GeneCard:CRIM1, HGNC:HGNC:2359, HumanCyc Gene:HS07695, ModBase:Q9NZV1, NCBI Gene:51232, OMIM:606189, RefSeq DNA:NT_022184, RefSeq Protein:NP_057525, RefSeq RNA:NM_016441, UCSC Genome Browser:NM_016441, UniProtKB:Q9NZV1 No chr2 36583370 36778278 36356088 36551135 +PA26878 1396 HGNC:2360 ENSG00000213145 cysteine rich protein 1 CRIP1 cysteine-rich protein 1 (intestinal) CRIP Yes No Comparative Toxicogenomics Database:1396, Ensembl:ENSG00000213145, GenAtlas:CRIP1, GeneCard:CRIP1, HGNC:HGNC:2360, ModBase:P50238, NCBI Gene:1396, OMIM:123875, RefSeq DNA:NT_026437, RefSeq Protein:NP_001302, RefSeq RNA:NM_001311, UCSC Genome Browser:NM_001311, UniProtKB:P50238 No chr14 105952892 105955128 105486920 105488789 +PA26879 1397 HGNC:2361 ENSG00000182809 cysteine rich protein 2 CRIP2 cysteine-rich protein 2 CRP2, ESP1 Yes No Comparative Toxicogenomics Database:1397, Ensembl:ENSG00000182809, GenAtlas:CRIP2, GeneCard:CRIP2, HGNC:HGNC:2361, ModBase:P52943, NCBI Gene:1397, OMIM:601183, RefSeq DNA:NT_026437, RefSeq Protein:NP_001303, RefSeq RNA:NM_001312, UCSC Genome Browser:NM_001312, UniProtKB:P52943 No chr14 105939275 105946507 105472938 105480170 +PA134929489 401262 HGNC:17751 ENSG00000146215 cysteine rich protein 3 CRIP3 cysteine-rich protein 3 TLP, TLP-A, bA480N24.2 Yes No Comparative Toxicogenomics Database:401262, Ensembl:ENSG00000146215, GeneCard:CRIP3, HGNC:HGNC:17751, ModBase:Q6Q6R5, NCBI Gene:401262, RefSeq DNA:NT_007592, RefSeq Protein:NP_996805, RefSeq RNA:NM_206922, UniProtKB:Q6Q6R5 No chr6 43273211 43277005 43305473 43310705 +PA145149101 9419 HGNC:14312 ENSG00000119878 CXXC repeat containing interactor of PDZ3 domain CRIPT cysteine-rich PDZ-binding protein HSPC139 Yes No Comparative Toxicogenomics Database:9419, Ensembl:ENSG00000119878, GeneCard:CRIPT, HGNC:HGNC:14312, HumanCyc Gene:HS12963, ModBase:Q9P021, NCBI Gene:9419, OMIM:604594, RefSeq DNA:NT_022184, RefSeq Protein:NP_054890, RefSeq RNA:NM_014171, UniProtKB:Q9P021 No chr2 46844325 46852881 46617172 46630176 +PA36420 6997 HGNC:11701 ENSG00000241186 cripto, EGF-CFC family member CRIPTO teratocarcinoma-derived growth factor 1 CR, CR-1, CRIPTO, Cripto-1, TDGF1 Yes No Comparative Toxicogenomics Database:6997, Ensembl:ENSG00000241186, GenAtlas:TDGF1, GeneCard:TDGF1, HGNC:HGNC:11701, HumanCyc Gene:HS08950, ModBase:P13385, NCBI Gene:6997, OMIM:187395, RefSeq DNA:NG_017049, RefSeq DNA:NT_022517, RefSeq Protein:NP_001167607, RefSeq Protein:NP_003203, RefSeq RNA:NM_001174136, RefSeq RNA:NM_003212, UCSC Genome Browser:NM_003212, UniProtKB:P13385 No chr3 46616045 46623953 46574555 46582463 +PA36422 6998 HGNC:11703 ENSG00000225366 cripto, EGF-CFC family member 3 CRIPTO3 teratocarcinoma-derived growth factor 1 pseudogene 3 CR-3, CRIPTO-3, CRIPTO3, TDGF1P3, TDGF2, TDGF3 Yes No Comparative Toxicogenomics Database:6998, Ensembl:ENSG00000225366, GenAtlas:TDGF3, GeneCard:TDGF1P3, HGNC:HGNC:11703, NCBI Gene:6998, RefSeq DNA:NT_011651, RefSeq RNA:NR_002718 No chrX 109763540 109766249 110520312 110523021 +PA24605 167 HGNC:304 ENSG00000124812 cysteine rich secretory protein 1 CRISP1 cysteine-rich secretory protein 1 AEGL1, ARP, CRISP-1, HSCRISP1D, HSCRISP1G, HUMARP Yes No Comparative Toxicogenomics Database:167, Ensembl:ENSG00000124812, GeneCard:CRISP1, HGNC:HGNC:304, HumanCyc Gene:HS04839, ModBase:P54107, NCBI Gene:167, OMIM:601193, RefSeq DNA:NT_007592, RefSeq Protein:NP_001122, RefSeq Protein:NP_001192149, RefSeq Protein:NP_733758, RefSeq RNA:NM_001131, RefSeq RNA:NM_001205220, RefSeq RNA:NM_170609, UCSC Genome Browser:NM_001131, UniProtKB:P54107 No chr6 49801970 49844809 49834257 49877096 +PA36703 7180 HGNC:12024 ENSG00000124490 cysteine rich secretory protein 2 CRISP2 cancer/testis antigen 36, cysteine-rich secretory protein 2 CRISP-2, CT36, GAPDL5, TPX1 Yes No Ensembl:ENSG00000124490, GeneCard:CRISP2, HGNC:HGNC:12024, HumanCyc Gene:HS04778, ModBase:P16562, NCBI Gene:7180, OMIM:187430, RefSeq DNA:NT_007592, RefSeq Protein:NP_001135879, RefSeq Protein:NP_001135880, RefSeq Protein:NP_001135889, RefSeq Protein:NP_001135907, RefSeq Protein:NP_003287, RefSeq RNA:NM_001142407, RefSeq RNA:NM_001142408, RefSeq RNA:NM_001142417, RefSeq RNA:NM_001142435, RefSeq RNA:NM_003296, UCSC Genome Browser:NM_003296, UniProtKB:P16562, UniProtKB:Q5U8Z9, UniProtKB:Q7Z7B2 No chr6 49660071 49681911 49676665 49714198 +PA134880440 10321 HGNC:16904 ENSG00000096006 cysteine rich secretory protein 3 CRISP3 cysteine-rich secretory protein 3 Aeg2, CRISP-3, CRS3, SGP28, dJ442L6.3 Yes No Ensembl:ENSG00000096006, GeneCard:CRISP3, HGNC:HGNC:16904, HumanCyc Gene:HS01841, ModBase:P54108, NCBI Gene:10321, RefSeq DNA:NT_007592, RefSeq Protein:NP_001177915, RefSeq Protein:NP_006052, RefSeq RNA:NM_001190986, RefSeq RNA:NM_006061, UniProtKB:P54108 No chr6 49695089 49712168 49727376 49744455 +PA142672076 83690 HGNC:18206 ENSG00000121005 cysteine rich secretory protein LCCL domain containing 1 CRISPLD1 cysteine-rich secretory protein LCCL domain containing 1 Cocoacrisp, DKFZp762F133, LCRISP1 Yes No Comparative Toxicogenomics Database:83690, Ensembl:ENSG00000121005, GeneCard:CRISPLD1, HGNC:HGNC:18206, HumanCyc Gene:HS04459, ModBase:Q9H336, NCBI Gene:83690, RefSeq DNA:NT_008183, RefSeq Protein:NP_113649, RefSeq RNA:NM_031461, UniProtKB:Q9H336 No chr8 75896708 75946793 74984473 75034558 +PA142672077 83716 HGNC:25248 ENSG00000103196 cysteine rich secretory protein LCCL domain containing 2 CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2, late gestation lung 1 DKFZP434B044, LCRISP2, LGL1 Yes No Comparative Toxicogenomics Database:83716, Ensembl:ENSG00000103196, GeneCard:CRISPLD2, HGNC:HGNC:25248, HumanCyc Gene:HS02470, ModBase:Q9H0B8, NCBI Gene:83716, OMIM:612434, RefSeq DNA:NT_010498, RefSeq Protein:NP_113664, RefSeq RNA:NM_031476, UniProtKB:Q9H0B8 No chr16 84853587 84943116 84819981 84909510 +PA26880 1398 HGNC:2362 ENSG00000167193 CRK proto-oncogene, adaptor protein CRK v-crk avian sarcoma virus CT10 oncogene homolog, v-crk sarcoma virus CT10 oncogene homolog (avian) Yes No Comparative Toxicogenomics Database:1398, Ensembl:ENSG00000167193, GenAtlas:CRK, GeneCard:CRK, HGNC:HGNC:2362, HumanCyc Gene:HS09523, ModBase:P46108, NCBI Gene:1398, OMIM:164762, RefSeq DNA:NT_010718, RefSeq Protein:NP_005197, RefSeq Protein:NP_058431, RefSeq RNA:NM_005206, RefSeq RNA:NM_016823, UCSC Genome Browser:NM_005206, UniProtKB:P46108, UniProtKB:Q96GA9 No chr17 1324647 1359561 1421353 1456267 +PA26881 1399 HGNC:2363 ENSG00000099942 CRK like proto-oncogene, adaptor protein CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like, v-crk sarcoma virus CT10 oncogene homolog (avian)-like Yes No Comparative Toxicogenomics Database:1399, Ensembl:ENSG00000099942, GenAtlas:CRKL, GeneCard:CRKL, HGNC:HGNC:2363, HumanCyc Gene:HS01933, ModBase:P46109, NCBI Gene:1399, OMIM:602007, RefSeq DNA:NG_016354, RefSeq DNA:NT_011520, RefSeq Protein:NP_005198, RefSeq RNA:NM_005207, UCSC Genome Browser:NM_005207, UniProtKB:P46109 No chr22 21271714 21308037 20917398 20953749 +PA26882 9244 HGNC:2364 ENSG00000006016 cytokine receptor like factor 1 CRLF1 cold-induced sweating syndrome, cytokine receptor-like factor 1 CISS, CISS1, CLF, CLF-1 Yes No Comparative Toxicogenomics Database:9244, Ensembl:ENSG00000006016, GenAtlas:CRLF1, GeneCard:CRLF1, HGNC:HGNC:2364, HumanCyc Gene:HS00158, ModBase:O75462, NCBI Gene:9244, OMIM:272430, OMIM:601378, OMIM:604237, RefSeq DNA:NG_013370, RefSeq DNA:NT_011295, RefSeq Protein:NP_004741, RefSeq RNA:NM_004750, UCSC Genome Browser:NM_004750, UniProtKB:O75462 No chr19 18704035 18717660 18593225 18606850 +PA26883 64109 HGNC:14281 ENSG00000205755 cytokine receptor like factor 2 CRLF2 cytokine receptor-like factor 2 CRL2, TSLPR Yes No Ensembl:ENSG00000205755, GenAtlas:CRLF2, GeneCard:CRLF2, HGNC:HGNC:14281, ModBase:Q9HC73, NCBI Gene:64109, OMIM:300357, OMIM:400023, RefSeq DNA:NT_167196, RefSeq DNA:NT_167204, RefSeq Protein:NP_001012288, RefSeq Protein:NP_071431, RefSeq RNA:NM_001012288, RefSeq RNA:NM_022148, UCSC Genome Browser:NM_022148, UniProtKB:D0E2W4, UniProtKB:Q5G7M1, UniProtKB:Q9HC73 No chrX 1314869 1331529 1190437 1212762 +PA26884 51379 HGNC:17177 ENSG00000176390 cytokine receptor like factor 3 CRLF3 cytokine receptor-like factor 3 CREME9, CYTOR4 Yes No Ensembl:ENSG00000176390, GenAtlas:CRLF3, GeneCard:CRLF3, HGNC:HGNC:17177, HumanCyc Gene:HS11045, ModBase:Q8IUI8, NCBI Gene:51379, RefSeq DNA:NT_010799, RefSeq Protein:NP_057070, RefSeq RNA:NM_015986, UCSC Genome Browser:NM_015986, UniProtKB:Q8IUI8 No chr17 29109702 29151778 30782684 30824760 +PA25697 54675 HGNC:16148 ENSG00000088766 cardiolipin synthase 1 CRLS1 GCD10 homolog (S. cerevisiae) C20orf155, CLS1, GCD10, dJ967N21.6 Yes No Comparative Toxicogenomics Database:54675, Ensembl:ENSG00000088766, GenAtlas:CRLS1, GeneCard:CRLS1, HGNC:HGNC:16148, HumanCyc Gene:HS01606, ModBase:Q9UJA2, NCBI Gene:54675, OMIM:608188, RefSeq DNA:NT_011387, RefSeq Protein:NP_001120930, RefSeq Protein:NP_061968, RefSeq RNA:NM_001127458, RefSeq RNA:NM_019095, UCSC Genome Browser:NM_019095, UniProtKB:Q9UJA2 No chr20 5986739 6020699 6005938 6040053 +PA26885 1400 HGNC:2365 ENSG00000072832 collapsin response mediator protein 1 CRMP1 DPYSL1, DRP-1 Yes No Comparative Toxicogenomics Database:1400, Ensembl:ENSG00000072832, GenAtlas:CRMP1, GeneCard:CRMP1, HGNC:HGNC:2365, HumanCyc Gene:HS01085, ModBase:Q14194, NCBI Gene:1400, OMIM:602462, RefSeq DNA:NT_006051, RefSeq Protein:NP_001014809, RefSeq Protein:NP_001304, RefSeq RNA:NM_001014809, RefSeq RNA:NM_001313, UCSC Genome Browser:NM_001313, UniProtKB:A0EJG6, UniProtKB:B3KT07, UniProtKB:Q14194, UniProtKB:Q96I11 No chr4 5822491 5894785 5820764 5893083 +PA165449849 643911 HGNC:37078 ENSG00000245694 colorectal neoplasia differentially expressed (non-protein coding) CRNDE long intergenic non-protein coding RNA 180 LINC00180, LOC643911 Yes No Ensembl:ENSG00000245694, GeneCard:CRNDE, HGNC:HGNC:37078, NCBI Gene:643911, RefSeq DNA:NT_010498, RefSeq RNA:NR_034105, RefSeq RNA:NR_034106, RefSeq RNA:XR_042100, RefSeq RNA:XR_042101, RefSeq RNA:XR_042102 No chr16 54952775 54963101 54918863 54929189 +PA26886 51340 HGNC:15762 ENSG00000101343 crooked neck pre-mRNA splicing factor 1 CRNKL1 SYF3 pre-mRNA-splicing factor, crooked neck pre-mRNA splicing factor-like 1 (Drosophila) CLF, CRN, Clf1, SYF3 Yes No Comparative Toxicogenomics Database:51340, Ensembl:ENSG00000101343, GenAtlas:CRNKL1, GeneCard:CRNKL1, HGNC:HGNC:15762, HumanCyc Gene:HS02248, ModBase:Q9H8F8, NCBI Gene:51340, OMIM:610952, RefSeq DNA:NT_011387, RefSeq Protein:NP_057736, RefSeq RNA:NM_016652, UCSC Genome Browser:NM_016652, UniProtKB:Q9BZJ0 No chr20 20015005 20036690 20034361 20056046 +PA25601 49860 HGNC:1230 ENSG00000143536 cornulin CRNN C1orf10, SEP53 Yes No Ensembl:ENSG00000143536, GenAtlas:CRNN, GeneCard:CRNN, HGNC:HGNC:1230, HumanCyc Gene:HS07070, ModBase:Q9UBG3, NCBI Gene:49860, OMIM:611312, RefSeq DNA:NT_004487, RefSeq Protein:NP_057274, RefSeq RNA:NM_016190, UCSC Genome Browser:NM_016190, UniProtKB:Q9UBG3 No chr1 152381719 152386750 152409243 152414274 +PA134911945 9696 HGNC:21299 ENSG00000058453 ciliary rootlet coiled-coil, rootletin CROCC rootletin, ciliary rootlet protein CROCC1, ROLT, rootletin Yes No Ensembl:ENSG00000058453, GeneCard:CROCC, HGNC:HGNC:21299, HumanCyc Gene:HS12147, ModBase:Q5TZA2, NCBI Gene:9696, RefSeq DNA:NT_004610, RefSeq Protein:NP_055490, RefSeq RNA:NM_014675, UniProtKB:Q5TZA2 No chr1 17248445 17299474 16914082 16972979 +PA166180596 728763 HGNC:51677 ENSG00000226321 ciliary rootlet coiled-coil, rootletin family member 2 CROCC2 Yes No Ensembl:ENSG00000226321, HGNC:HGNC:51677, NCBI Gene:728763 No 0 0 0 0 +PA26887 54677 HGNC:2366 ENSG00000005469 carnitine O-octanoyltransferase CROT COT Yes No Comparative Toxicogenomics Database:54677, Ensembl:ENSG00000005469, GenAtlas:CROT, GeneCard:CROT, HGNC:HGNC:2366, HumanCyc Gene:HS00143, ModBase:Q9UKG9, NCBI Gene:54677, OMIM:606090, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001137407, RefSeq Protein:NP_066974, RefSeq RNA:NM_001143935, RefSeq RNA:NM_021151, RefSeq RNA:NR_026585, UCSC Genome Browser:NM_021151, UniProtKB:Q9UKG9 No chr7 86974951 87029112 87345635 87399796 +PA120 1401 HGNC:2367 ENSG00000132693 C-reactive protein CRP """C-reactive protein, pentraxin-related"", ""pentraxin 1""" PTX1 Yes Yes Comparative Toxicogenomics Database:1401, Ensembl:ENSG00000132693, GenAtlas:CRP, GeneCard:CRP, HGNC:HGNC:2367, HumanCyc Gene:HS05678, ModBase:P02741, NCBI Gene:1401, OMIM:123260, RefSeq DNA:NG_013007, RefSeq DNA:NT_004487, RefSeq Protein:NP_000558, RefSeq RNA:NM_000567, UCSC Genome Browser:NM_000567, UniProtKB:P02741 No chr1 159682079 159684396 159712289 159714623 +PA26888 171422 HGNC:2368 ENSG00000223603 C-reactive protein pseudogene 1 CRPP1 Yes No Ensembl:ENSG00000223603, GenAtlas:CRPP1, GeneCard:CRPP1, HGNC:HGNC:2368, NCBI Gene:171422, RefSeq DNA:NG_001016, RefSeq DNA:NT_004487 No chr1 159674740 159675386 159704950 159705596 +PA165618128 729920 HGNC:37276 ENSG00000214960 CDP-L-ribitol pyrophosphorylase A CRPPA 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis), D-ribitol-5-phosphate cytidylyltransferase, isoprenoid synthase domain containing, notch1-induced protein IspD, Nip, hCG_1745121 Yes No Ensembl:ENSG00000214960, GeneCard:ISPD, HGNC:HGNC:37276, NCBI Gene:729920, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001094887, RefSeq Protein:NP_001094896, RefSeq RNA:NM_001101417, RefSeq RNA:NM_001101426, UniProtKB:A4D126 No chr7 16127152 16460947 16087527 16422562 +PA26894 10688 HGNC:2374 cofactor required for Sp1 transcriptional activation, subunit 5, 85kDa CRSP5 Yes No GenAtlas:CRSP5, GeneCard:CRSP5, HGNC:HGNC:2374, NCBI Gene:10688 No +PA26899 55118 HGNC:14882 ENSG00000095713 cartilage acidic protein 1 CRTAC1 ASPIC1, CEP-68, FLJ10320 Yes No Ensembl:ENSG00000095713, GenAtlas:CRTAC1, GeneCard:CRTAC1, HGNC:HGNC:14882, HumanCyc Gene:HS01831, ModBase:Q9NQ79, NCBI Gene:55118, OMIM:606276, RefSeq DNA:NT_030059, RefSeq Protein:NP_001193457, RefSeq Protein:NP_060528, RefSeq RNA:NM_001206528, RefSeq RNA:NM_018058, UCSC Genome Browser:NM_018058, UniProtKB:Q9NQ79 No chr10 99624757 99790585 97854711 98030828 +PA145149072 56253 HGNC:24313 ENSG00000109943 cytotoxic and regulatory T cell molecule CRTAM class I MHC restricted T cell associated molecule CD355 Yes No Comparative Toxicogenomics Database:56253, Ensembl:ENSG00000109943, GeneCard:CRTAM, HGNC:HGNC:24313, HumanCyc Gene:HS12705, ModBase:O95727, NCBI Gene:56253, OMIM:612597, RefSeq DNA:NT_033899, RefSeq Protein:NP_062550, RefSeq RNA:NM_019604, UniProtKB:O95727 No chr11 122709255 122743347 122838419 122872643 +PA26900 10491 HGNC:2379 ENSG00000170275 cartilage associated protein CRTAP leprecan-like 3, prolyl 3-hydroxylase family member 5 (non-enzymatic) CASP, LEPREL3, P3H5 Yes No Comparative Toxicogenomics Database:10491, Ensembl:ENSG00000170275, GenAtlas:CRTAP, GeneCard:CRTAP, HGNC:HGNC:2379, HumanCyc Gene:HS10094, ModBase:O75718, NCBI Gene:10491, OMIM:605497, OMIM:610682, OMIM:610854, RefSeq DNA:NG_008122, RefSeq DNA:NT_022517, RefSeq Protein:NP_006362, RefSeq RNA:NM_006371, UCSC Genome Browser:NM_006371, UniProtKB:O75718 No chr3 33155450 33189265 33113958 33147773 +PA30730 23373 HGNC:16062 ENSG00000105662 CREB regulated transcription coactivator 1 CRTC1 transducer of regulated cAMP response element-binding protein FLJ14027, KIAA0616, MECT1, TORC1 Yes No Ensembl:ENSG00000105662, GenAtlas:CRTC1, GeneCard:CRTC1, HGNC:HGNC:16062, HumanCyc Gene:HS12599, ModBase:Q8N6W3, NCBI Gene:23373, OMIM:607536, RefSeq DNA:NT_011295, RefSeq Protein:NP_001091952, RefSeq Protein:NP_056136, RefSeq RNA:NM_001098482, RefSeq RNA:NM_015321, UCSC Genome Browser:NM_015321, UniProtKB:Q6UUV9 No chr19 18794425 18893143 18683615 18782333 +PA142672073 200186 HGNC:27301 ENSG00000160741 CREB regulated transcription coactivator 2 CRTC2 TORC2 Yes Yes Comparative Toxicogenomics Database:200186, Ensembl:ENSG00000160741, GeneCard:CRTC2, HGNC:HGNC:27301, ModBase:Q53ET0, NCBI Gene:200186, OMIM:608972, RefSeq DNA:NT_004487, RefSeq Protein:NP_859066, RefSeq RNA:NM_181715, UniProtKB:Q53ET0 No chr1 153920148 153931132 153947672 153958656 +PA142672074 64784 HGNC:26148 ENSG00000140577 CREB regulated transcription coactivator 3 CRTC3 FLJ21868 Yes No Ensembl:ENSG00000140577, GeneCard:CRTC3, HGNC:HGNC:26148, HumanCyc Gene:HS13842, ModBase:Q6UUV7, NCBI Gene:64784, OMIM:608986, RefSeq DNA:NT_010274, RefSeq Protein:NP_001036039, RefSeq Protein:NP_073606, RefSeq RNA:NM_001042574, RefSeq RNA:NM_022769, UniProtKB:Q6UUV7, UniProtKB:Q8TEF4 No chr15 91073118 91188577 90529886 90645345 +PA26903 1406 HGNC:2383 ENSG00000105392 cone-rod homeobox CRX orthodenticle homeobox 3 CORD2, CRD, LCA7, OTX3 Yes No Comparative Toxicogenomics Database:1406, Ensembl:ENSG00000105392, GenAtlas:CRX, GeneCard:CRX, HGNC:HGNC:2383, HumanCyc Gene:HS02730, ModBase:O43186, NCBI Gene:1406, OMIM:120970, OMIM:268000, OMIM:602225, RefSeq DNA:NG_008605, RefSeq DNA:NT_011109, RefSeq Protein:NP_000545, RefSeq RNA:NM_000554, UCSC Genome Browser:NM_000554, UniProtKB:O43186 No chr19 48323807 48346587 47821842 47843330 +PA26904 1407 HGNC:2384 ENSG00000008405 cryptochrome circadian regulator 1 CRY1 cryptochrome 1 (photolyase-like), cryptochrome circadian clock 1 PHLL1 Yes Yes Comparative Toxicogenomics Database:1407, Ensembl:ENSG00000008405, GenAtlas:CRY1, GeneCard:CRY1, HGNC:HGNC:2384, HumanCyc Gene:HS00246, ModBase:Q16526, NCBI Gene:1407, OMIM:601933, RefSeq DNA:NT_029419, RefSeq Protein:NP_004066, RefSeq RNA:NM_004075, UCSC Genome Browser:NM_004075, UniProtKB:A2I2P0, UniProtKB:Q16526 No chr12 107385142 107487635 106991364 107093872 +PA26905 1408 HGNC:2385 ENSG00000121671 cryptochrome circadian regulator 2 CRY2 cryptochrome 2 (photolyase-like), cryptochrome circadian clock 2 Yes No Ensembl:ENSG00000121671, GenAtlas:CRY2, GeneCard:CRY2, HGNC:HGNC:2385, HumanCyc Gene:HS04510, ModBase:Q49AN0, NCBI Gene:1408, OMIM:603732, RefSeq DNA:NT_009237, RefSeq Protein:NP_001120929, RefSeq Protein:NP_066940, RefSeq RNA:NM_001127457, RefSeq RNA:NM_021117, UCSC Genome Browser:NM_021117, UniProtKB:B4DZD6, UniProtKB:Q49AN0 No chr11 45868669 45904799 45847118 45883248 +PA26906 1409 HGNC:2388 ENSG00000160202 crystallin alpha A CRYAA crystallin, alpha A CRYA1, HSPB4 Yes No Comparative Toxicogenomics Database:1409, Ensembl:ENSG00000160202, GenAtlas:CRYAA, GeneCard:CRYAA, HGNC:HGNC:2388, HumanCyc Gene:HS08463, ModBase:P02489, NCBI Gene:1409, OMIM:123580, RefSeq DNA:NG_009823, RefSeq DNA:NT_011515, RefSeq Protein:NP_000385, RefSeq RNA:NM_000394, UCSC Genome Browser:NM_000394, UniProtKB:P02489, UniProtKB:Q53X53 No chr21 44589141 44592915 43169008 43172810 +PA166352432 HGNC:51901 crystallin alpha A2 CRYAA2 Yes No HGNC:HGNC:51901 No 0 0 0 0 +PA26907 1410 HGNC:2389 ENSG00000109846 crystallin alpha B CRYAB crystallin, alpha B CRYA2, HSPB5 Yes No Comparative Toxicogenomics Database:1410, Ensembl:ENSG00000109846, GenAtlas:CRYAB, GeneCard:CRYAB, HGNC:HGNC:2389, HumanCyc Gene:HS03263, ModBase:P02511, NCBI Gene:1410, OMIM:123590, OMIM:608810, RefSeq DNA:NG_009824, RefSeq DNA:NT_033899, RefSeq Protein:NP_001876, RefSeq RNA:NM_001885, UCSC Genome Browser:NM_001885, UniProtKB:P02511 No chr11 111779350 111782473 111908620 111913213 +PA26908 1411 HGNC:2394 ENSG00000108255 crystallin beta A1 CRYBA1 """crystallin, beta A1"", ""eye lens structural protein""" CRYB1 Yes No Comparative Toxicogenomics Database:1411, Ensembl:ENSG00000108255, GenAtlas:CRYBA1, GeneCard:CRYBA1, HGNC:HGNC:2394, HumanCyc Gene:HS03076, ModBase:P05813, NCBI Gene:1411, OMIM:123610, OMIM:600881, RefSeq DNA:NG_008037, RefSeq DNA:NT_010799, RefSeq Protein:NP_005199, RefSeq RNA:NM_005208, UCSC Genome Browser:NM_005208, UniProtKB:P05813 No chr17 27573875 27581512 29246857 29254494 +PA26909 1412 HGNC:2395 ENSG00000163499 crystallin beta A2 CRYBA2 crystallin, beta A2 Yes No Comparative Toxicogenomics Database:1412, Ensembl:ENSG00000163499, GenAtlas:CRYBA2, GeneCard:CRYBA2, HGNC:HGNC:2395, HumanCyc Gene:HS08861, ModBase:P53672, NCBI Gene:1412, OMIM:600836, RefSeq DNA:NT_005403, RefSeq Protein:NP_005200, RefSeq Protein:NP_476434, RefSeq Protein:NP_476435, RefSeq RNA:NM_005209, RefSeq RNA:NM_057093, RefSeq RNA:NM_057094, UCSC Genome Browser:NM_005209, UniProtKB:P53672, UniProtKB:Q4ZFX0 No chr2 219854912 219858127 218990190 218993405 +PA26910 1413 HGNC:2396 ENSG00000196431 crystallin beta A4 CRYBA4 crystallin, beta A4 Yes No Comparative Toxicogenomics Database:1413, Ensembl:ENSG00000196431, GenAtlas:CRYBA4, GeneCard:CRYBA4, HGNC:HGNC:2396, ModBase:P53673, NCBI Gene:1413, OMIM:123631, OMIM:610425, OMIM:610426, RefSeq DNA:NG_009825, RefSeq DNA:NT_011520, RefSeq Protein:NP_001877, RefSeq RNA:NM_001886, UCSC Genome Browser:NM_001886, UniProtKB:P53673 No chr22 27017928 27026636 26607982 26630672 +PA26911 1414 HGNC:2397 ENSG00000100122 crystallin beta B1 CRYBB1 crystallin, beta B1 Yes No Comparative Toxicogenomics Database:1414, Ensembl:ENSG00000100122, GenAtlas:CRYBB1, GeneCard:CRYBB1, HGNC:HGNC:2397, HumanCyc Gene:HS01982, ModBase:P53674, NCBI Gene:1414, OMIM:600929, OMIM:611544, RefSeq DNA:NG_009826, RefSeq DNA:NT_011520, RefSeq Protein:NP_001878, RefSeq RNA:NM_001887, UCSC Genome Browser:NM_001887, UniProtKB:P53674 No chr22 26995362 27013991 26599278 26618103 +PA26912 1415 HGNC:2398 ENSG00000244752 crystallin beta B2 CRYBB2 crystallin, beta B2 CCA2, CRYB2, CRYB2A Yes No Comparative Toxicogenomics Database:1415, Ensembl:ENSG00000244752, GenAtlas:CRYBB2, GeneCard:CRYBB2, HGNC:HGNC:2398, HumanCyc Gene:HS01964, ModBase:P43320, NCBI Gene:1415, OMIM:123620, OMIM:601547, OMIM:604307, OMIM:607133, RefSeq DNA:NG_009827, RefSeq DNA:NT_011520, RefSeq Protein:NP_000487, RefSeq RNA:NM_000496, UCSC Genome Browser:NM_000496, UniProtKB:P43320 No chr22 25615612 25627836 25211660 25231869 +PA26913 1416 HGNC:2399 ENSG00000100058 crystallin, beta B2 pseudogene 1 CRYBB2P1 Yes No Ensembl:ENSG00000100058, GenAtlas:CRYBB2P1, GeneCard:CRYBB2P1, HGNC:HGNC:2399, NCBI Gene:1416, RefSeq DNA:NG_000851, RefSeq DNA:NT_011520, RefSeq RNA:NR_033733, RefSeq RNA:NR_033734 No chr22 25844054 25857645 25448087 25461678 +PA26914 1417 HGNC:2400 ENSG00000100053 crystallin beta B3 CRYBB3 crystallin, beta B3 CRYB3 Yes No Comparative Toxicogenomics Database:1417, Ensembl:ENSG00000100053, GenAtlas:CRYBB3, GeneCard:CRYBB3, HGNC:HGNC:2400, HumanCyc Gene:HS01962, ModBase:P26998, NCBI Gene:1417, OMIM:123630, OMIM:609741, RefSeq DNA:NG_009828, RefSeq DNA:NT_011520, RefSeq Protein:NP_004067, RefSeq RNA:NM_004076, UCSC Genome Browser:NM_004076, UniProtKB:P26998 No chr22 25595817 25603326 25199312 25207617 +PA24649 202 HGNC:356 ENSG00000112297 crystallin beta-gamma domain containing 1 CRYBG1 absent in melanoma 1, beta-gamma crystallin domain containing 1, suppression of tumorigenicity 4 AIM1, CRYBG1, ST4 Yes No Comparative Toxicogenomics Database:202, Ensembl:ENSG00000112297, GenAtlas:AIM1, GeneCard:AIM1, HGNC:HGNC:356, HumanCyc Gene:HS03551, ModBase:Q9Y4K1, NCBI Gene:202, OMIM:601797, RefSeq DNA:NT_025741, RefSeq Protein:NP_001615, RefSeq RNA:NM_001624, UniProtKB:B3KPT0, UniProtKB:Q9Y4K1 No chr6 106808683 107018335 106360808 106570449 +PA24650 55057 HGNC:17295 ENSG00000176092 crystallin beta-gamma domain containing 2 CRYBG2 absent in melanoma 1-like, beta-gamma crystallin domain containing 2 AIM1L, CRYBG2, FLJ38020 Yes Yes Comparative Toxicogenomics Database:55057, Ensembl:ENSG00000176092, GenAtlas:AIM1L, GeneCard:AIM1L, HGNC:HGNC:17295, HumanCyc Gene:HS16587, ModBase:Q8N1P7, NCBI Gene:55057, RefSeq DNA:NT_004610, RefSeq Protein:NP_001034864, RefSeq RNA:NM_001039775, UCSC Genome Browser:NM_017977, UniProtKB:Q8N1P7 No chr1 26648350 26680621 26321859 26354130 +PA164718140 131544 HGNC:34427 ENSG00000080200 crystallin beta-gamma domain containing 3 CRYBG3 beta-gamma crystallin domain containing 3 DKFZp667G2110 Yes No Ensembl:ENSG00000080200, GeneCard:CRYBG3, HGNC:HGNC:34427, HumanCyc Gene:HS12257, ModBase:Q68DQ2, NCBI Gene:131544, RefSeq DNA:NT_005612, RefSeq Protein:NP_705833, RefSeq Protein:XP_003118570, RefSeq RNA:NM_153605, RefSeq RNA:XM_003118522, UniProtKB:Q68DQ2 No chr3 97540537 97663830 97821930 97944986 +PA26915 1418 HGNC:2408 ENSG00000168582 crystallin gamma A CRYGA """crystallin, gamma A"", ""gamma crystallin 5""" CRY-g-A, CRYG1, CRYG5 Yes No Ensembl:ENSG00000168582, GenAtlas:CRYGA, GeneCard:CRYGA, HGNC:HGNC:2408, HumanCyc Gene:HS09789, ModBase:P11844, NCBI Gene:1418, OMIM:123660, RefSeq DNA:NT_005403, RefSeq Protein:NP_055432, RefSeq RNA:NM_014617, UCSC Genome Browser:NM_014617, UniProtKB:P11844 No chr2 209025464 209028366 208160740 208163573 +PA26916 1419 HGNC:2409 ENSG00000182187 crystallin gamma B CRYGB crystallin, gamma B CRYG2 Yes No Comparative Toxicogenomics Database:1419, Ensembl:ENSG00000182187, GenAtlas:CRYGB, GeneCard:CRYGB, HGNC:HGNC:2409, HumanCyc Gene:HS08815, ModBase:P07316, NCBI Gene:1419, OMIM:123670, RefSeq DNA:NT_005403, RefSeq Protein:NP_005201, RefSeq RNA:NM_005210, UCSC Genome Browser:NM_005210, UniProtKB:P07316 No chr2 209007297 209010877 208142573 208146327 +PA26917 1420 HGNC:2410 ENSG00000163254 crystallin gamma C CRYGC crystallin, gamma C CRYG3 Yes No Comparative Toxicogenomics Database:1420, Ensembl:ENSG00000163254, GenAtlas:CRYGC, GeneCard:CRYGC, HGNC:HGNC:2410, ModBase:P07315, NCBI Gene:1420, OMIM:123680, OMIM:604307, RefSeq DNA:NG_008038, RefSeq DNA:NT_005403, RefSeq Protein:NP_066269, RefSeq RNA:NM_020989, UCSC Genome Browser:NM_020989, UniProtKB:P07315 No chr2 208992861 208994554 208128137 208139100 +PA26918 1421 HGNC:2411 ENSG00000118231 crystallin gamma D CRYGD crystallin, gamma D CRYG4 Yes No Comparative Toxicogenomics Database:1421, Ensembl:ENSG00000118231, GenAtlas:CRYGD, GeneCard:CRYGD, HGNC:HGNC:2411, HumanCyc Gene:HS04203, ModBase:P07320, NCBI Gene:1421, OMIM:115700, OMIM:123690, OMIM:601286, OMIM:608983, RefSeq DNA:NG_008039, RefSeq DNA:NT_005403, RefSeq Protein:NP_008822, RefSeq RNA:NM_006891, UCSC Genome Browser:NM_006891, UniProtKB:P07320 No chr2 208986331 208989313 208121607 208124589 +PA26919 200575 HGNC:2412 ENSG00000229150 crystallin, gamma E, pseudogene CRYGEP G2 Yes No Ensembl:ENSG00000229150, GenAtlas:CRYGEP1, GeneCard:CRYGEP, HGNC:HGNC:2412, NCBI Gene:200575, RefSeq DNA:NG_002762, RefSeq DNA:NT_005403 No chr2 208972888 208977441 208108164 208112717 +PA26920 1423 HGNC:2413 ENSG00000232799 crystallin, gamma F pseudogene CRYGFP p1 Yes No Ensembl:ENSG00000232799, GenAtlas:CRYGFP1, GeneCard:CRYGFP, HGNC:HGNC:2413, NCBI Gene:1423, RefSeq DNA:NG_001107, RefSeq DNA:NT_005403 No chr2 210009852 210012530 209145211 209147747 +PA26921 1424 HGNC:2414 ENSG00000223710 crystallin, gamma G, pseudogene CRYGGP Yes No Ensembl:ENSG00000223710, GenAtlas:CRYGGP1, GeneCard:CRYGGP, HGNC:HGNC:2414, NCBI Gene:1424, RefSeq DNA:NG_001108, RefSeq DNA:NT_022184 No chr2 52002136 52002852 51774998 51775714 +PA134870586 155051 HGNC:20458 ENSG00000127377 crystallin gamma N CRYGN crystallin, gamma N Yes No Comparative Toxicogenomics Database:155051, Ensembl:ENSG00000127377, GeneCard:CRYGN, HGNC:HGNC:20458, HumanCyc Gene:HS13236, ModBase:Q8WXF5, NCBI Gene:155051, OMIM:609603, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_653328, RefSeq RNA:NM_144727, UniProtKB:Q8WXF5 No chr7 151127056 151137256 151428832 151448790 +PA26922 1427 HGNC:2417 ENSG00000213139 crystallin gamma S CRYGS """crystallin, gamma 8"", ""crystallin, gamma S""" CRYG8 Yes No Ensembl:ENSG00000213139, GenAtlas:CRYGS, GeneCard:CRYGS, HGNC:HGNC:2417, ModBase:P22914, NCBI Gene:1427, OMIM:123730, RefSeq DNA:NG_009829, RefSeq DNA:NT_005612, RefSeq Protein:NP_060011, RefSeq RNA:NM_017541, UCSC Genome Browser:NM_017541, UniProtKB:P22914 No chr3 186256232 186263049 186538443 186544378 +PA26923 51084 HGNC:18246 ENSG00000165475 crystallin lambda 1 CRYL1 """L-gulonate 3-dehydrogenase"", ""crystallin, lambda 1"", ""crystallin, lamda 1"", ""lambda-crystallin homolog""" GDH, MGC149525, MGC149526, lambda-CRY Yes No Comparative Toxicogenomics Database:51084, Ensembl:ENSG00000165475, GenAtlas:CRYL1, GeneCard:CRYL1, HGNC:HGNC:18246, HumanCyc Gene:HS09237, ModBase:Q9Y2S2, NCBI Gene:51084, OMIM:609877, RefSeq DNA:NT_024524, RefSeq Protein:NP_057058, RefSeq RNA:NM_015974, UCSC Genome Browser:NM_015974, UniProtKB:Q9Y2S2 No chr13 20977806 21100012 20403667 20525873 +PA26924 1428 HGNC:2418 ENSG00000103316 crystallin mu CRYM """crystallin, mu"", ""mu-crystallin"", ""thiomorpholine-carboxylate dehydrogenase""" DFNA40 Yes No Comparative Toxicogenomics Database:1428, Ensembl:ENSG00000103316, GenAtlas:CRYM, GeneCard:CRYM, HGNC:HGNC:2418, HumanCyc Gene:HS02488, ModBase:Q14894, NCBI Gene:1428, OMIM:123740, RefSeq DNA:NG_011610, RefSeq DNA:NT_010393, RefSeq Protein:NP_001014444, RefSeq Protein:NP_001879, RefSeq RNA:NM_001014444, RefSeq RNA:NM_001888, UCSC Genome Browser:NM_001888, UniProtKB:D5MNX0, UniProtKB:Q14894, UniProtKB:Q5HYB7 No chr16 21269839 21314404 21258518 21303136 +PA164723759 400508 HGNC:34405 ENSG00000189149 CRYM antisense RNA 1 CRYM-AS1 FLJ41766 Yes No Ensembl:ENSG00000189149, GeneCard:NCRNA00169, HGNC:HGNC:34405, NCBI Gene:400508, RefSeq DNA:NT_010393, RefSeq RNA:NR_026675 No chr16 21312170 21349811 21300849 21318591 +PA26925 1429 HGNC:2419 ENSG00000116791 crystallin zeta CRYZ """NADPH:quinone reductase"", ""crystallin, zeta (quinone reductase)"", ""quinone oxidoreductase""" Yes No Comparative Toxicogenomics Database:1429, Ensembl:ENSG00000116791, GenAtlas:CRYZ, GeneCard:CRYZ, HGNC:HGNC:2419, HumanCyc Gene:HS04055, ModBase:Q08257, NCBI Gene:1429, OMIM:123691, RefSeq DNA:NT_032977, RefSeq Protein:NP_001123514, RefSeq Protein:NP_001123515, RefSeq Protein:NP_001128231, RefSeq Protein:NP_001880, RefSeq RNA:NM_001130042, RefSeq RNA:NM_001130043, RefSeq RNA:NM_001134759, RefSeq RNA:NM_001889, UCSC Genome Browser:NM_001889, UniProtKB:A6NN60, UniProtKB:Q08257, UniProtKB:Q5HYE7 No chr1 75171170 75199092 74705482 74733408 +PA26926 9946 HGNC:2420 ENSG00000205758 crystallin zeta like 1 CRYZL1 """crystallin, zeta (quinone reductase)-like 1"", ""quinone reductase-like 1""" 4P11, FERRY4, Fy-4, QOH-1 Yes No Ensembl:ENSG00000205758, GenAtlas:CRYZL1, GeneCard:CRYZL1, HGNC:HGNC:2420, ModBase:O95825, NCBI Gene:9946, OMIM:603920, RefSeq DNA:NT_011512, RefSeq Protein:NP_665857, RefSeq RNA:NM_145858, UCSC Genome Browser:NM_005111, UniProtKB:O95825 No chr21 34961647 35014160 33589341 33641854 +PA26927 1430 HGNC:2421 ENSG00000233025 crystallin, zeta (quinone reductase) pseudogene 1 CRYZP1 Yes No Ensembl:ENSG00000233025, GenAtlas:CRYZP1, GeneCard:CRYZP1, HGNC:HGNC:2421, NCBI Gene:1430, RefSeq DNA:NG_001109, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596 No chr7 102728148 102730222 103087701 103089775 +PA26928 1431 HGNC:2422 ENSG00000062485 citrate synthase CS Yes No Comparative Toxicogenomics Database:1431, Ensembl:ENSG00000062485, GenAtlas:CS, GeneCard:CS, HGNC:HGNC:2422, HumanCyc Gene:HS00768, ModBase:O75390, NCBI Gene:1431, OMIM:118950, RefSeq DNA:NT_029419, RefSeq Protein:NP_004068, RefSeq RNA:NM_004077, UCSC Genome Browser:NM_004077, UniProtKB:O75390 No chr12 56665483 56694175 56271699 56300391 +PA38771 51380 HGNC:18966 ENSG00000139631 cysteine sulfinic acid decarboxylase CSAD P-selectin cytoplasmic tail-associated protein CSD, PCAP Yes No Comparative Toxicogenomics Database:51380, Ensembl:ENSG00000139631, GenAtlas:CSAD, GeneCard:CSAD, HGNC:HGNC:18966, HumanCyc Gene:HS06642, ModBase:Q9Y600, NCBI Gene:51380, RefSeq DNA:NT_029419, RefSeq Protein:NP_057073, RefSeq RNA:NM_015989, UCSC Genome Browser:NM_015989, UniProtKB:Q9Y600 No chr12 53551447 53575422 53157663 53180909 +PA134962241 158511 HGNC:24294 ENSG00000198930 chondrosarcoma associated gene 1 CSAG1 cancer/testis antigen family 24, member 1 CSAGE, CT24.1 Yes No Ensembl:ENSG00000198930, GeneCard:CSAG1, HGNC:HGNC:24294, NCBI Gene:158511, RefSeq DNA:NG_013228, RefSeq DNA:NT_167198, RefSeq Protein:NP_001096046, RefSeq Protein:NP_705611, RefSeq RNA:NM_001102576, RefSeq RNA:NM_153478, UniProtKB:Q6PB30 No chrX 151903228 151909518 152727484 152733736 +PA134919230 102723547 HGNC:16847 ENSG00000248392, ENSG00000249559, ENSG00000251065, ENSG00000251096 CSAG family member 2 CSAG2 """CSAG family, member 2"", ""cancer/testis antigen family 24, member 2"", ""taxol resistance associated gene 3""" CSAG3B, CT24.2, TRAG3 Yes No Ensembl:ENSG00000248392, Ensembl:ENSG00000249559, Ensembl:ENSG00000251065, Ensembl:ENSG00000251096, GeneCard:CSAG2, HGNC:HGNC:16847, NCBI Gene:102723547, RefSeq DNA:NT_167198, RefSeq Protein:NP_001074317, RefSeq Protein:NP_004900, RefSeq RNA:NM_001080848, RefSeq RNA:NM_004909, UniProtKB:Q9Y5P2 No chrX +PA162382828 389903 HGNC:26237 ENSG00000268916 CSAG family member 3 CSAG3 CSAG family, member 3 CSAG3A Yes No Ensembl:ENSG00000268916, GeneCard:CSAG3, HGNC:HGNC:26237, NCBI Gene:389903, RefSeq DNA:NT_167198, RefSeq Protein:NP_001123298, RefSeq Protein:NP_001123300, RefSeq RNA:NM_001129826, RefSeq RNA:NM_001129828 No chrX 151876743 151881833 152753921 152760222 +PA142672070 100130935 HGNC:20923 ENSG00000242599 CSAG family, member 4 (pseudogene) CSAG4 Yes No Ensembl:ENSG00000242599, GeneCard:CSAG4, HGNC:HGNC:20923, NCBI Gene:100130935 No chrX 151895976 151903136 152733827 152740985 +PA142672071 27254 HGNC:30359 ENSG00000172346 cold shock domain containing C2 CSDC2 cold shock domain containing C2, RNA binding PIPPin Yes No Comparative Toxicogenomics Database:27254, Ensembl:ENSG00000172346, GeneCard:CSDC2, HGNC:HGNC:30359, HumanCyc Gene:HS10495, ModBase:Q9Y534, NCBI Gene:27254, RefSeq DNA:NT_011520, RefSeq Protein:NP_055275, RefSeq RNA:NM_014460, UniProtKB:Q9Y534 No chr22 41957014 41972670 41561010 41576666 +PA142672072 7812 HGNC:29905 ENSG00000009307 cold shock domain containing E1 CSDE1 """cold shock domain containing E1, RNA-binding"", ""upstream of NRAS""" D1S155E, UNR Yes No Comparative Toxicogenomics Database:7812, Ensembl:ENSG00000009307, GeneCard:CSDE1, HGNC:HGNC:29905, HumanCyc Gene:HS00260, ModBase:O75534, NCBI Gene:7812, OMIM:191510, RefSeq DNA:NT_032977, RefSeq Protein:NP_001007554, RefSeq Protein:NP_001123995, RefSeq Protein:NP_001229820, RefSeq Protein:NP_001229821, RefSeq Protein:NP_001229822, RefSeq Protein:NP_009089, RefSeq RNA:NM_001007553, RefSeq RNA:NM_001130523, RefSeq RNA:NM_001242891, RefSeq RNA:NM_001242892, RefSeq RNA:NM_001242893, RefSeq RNA:NM_007158, UniProtKB:O75534 No chr1 115259534 115300671 114716913 114758050 +PA26933 1434 HGNC:2431 ENSG00000124207 chromosome segregation 1 like CSE1L CSE1 chromosome segregation 1-like (yeast), cellular apoptosis susceptibility CAS, CSE1, XPO2 Yes No Comparative Toxicogenomics Database:1434, Ensembl:ENSG00000124207, GenAtlas:CSE1L, GeneCard:CSE1L, HGNC:HGNC:2431, HumanCyc Gene:HS04735, ModBase:P55060, NCBI Gene:1434, OMIM:601342, RefSeq DNA:NT_011362, RefSeq Protein:NP_001307, RefSeq RNA:NM_001316, UCSC Genome Browser:NM_001316, UniProtKB:P55060 No chr20 47662783 47713497 49046246 49096960 +PA26935 1435 HGNC:2432 ENSG00000184371 colony stimulating factor 1 CSF1 colony stimulating factor 1 (macrophage), macrophage colony stimulating factor 1 M-CSF, MCSF, MGC31930 Yes No Comparative Toxicogenomics Database:1435, Ensembl:ENSG00000184371, GenAtlas:CSF1, GeneCard:CSF1, HGNC:HGNC:2432, ModBase:P09603, NCBI Gene:1435, OMIM:120420, RefSeq DNA:NT_032977, RefSeq Protein:NP_000748, RefSeq Protein:NP_757349, RefSeq Protein:NP_757350, RefSeq Protein:NP_757351, RefSeq RNA:NM_000757, RefSeq RNA:NM_172210, RefSeq RNA:NM_172211, RefSeq RNA:NM_172212, UCSC Genome Browser:NM_000757, UniProtKB:P09603 No chr1 110453233 110473616 109910506 109930994 +PA26936 1436 HGNC:2433 ENSG00000182578 colony stimulating factor 1 receptor CSF1R C-FMS, CD115, CSFR, FMS Yes No Comparative Toxicogenomics Database:1436, Ensembl:ENSG00000182578, GenAtlas:CSF1R, GeneCard:CSF1R, HGNC:HGNC:2433, ModBase:P07333, NCBI Gene:1436, OMIM:164770, RefSeq DNA:NG_012303, RefSeq DNA:NT_029289, RefSeq Protein:NP_005202, RefSeq RNA:NM_005211, UCSC Genome Browser:NM_005211, UniProtKB:P07333, UniProtKB:Q86VW7 No chr5 149432854 149492935 150053291 150113372 +PA26937 1437 HGNC:2434 ENSG00000164400 colony stimulating factor 2 CSF2 colony stimulating factor 2 (granulocyte-macrophage), granulocyte-macrophage colony stimulating factor, molgramostim, molgramostin, sargramostim GM-CSF, GMCSF Yes No Comparative Toxicogenomics Database:1437, Ensembl:ENSG00000164400, GenAtlas:CSF2, GeneCard:CSF2, HGNC:HGNC:2434, HumanCyc Gene:HS09074, NCBI Gene:1437, OMIM:138960, RefSeq DNA:NT_034772, RefSeq Protein:NP_000749, RefSeq RNA:NM_000758, UCSC Genome Browser:NM_000758, UniProtKB:P04141 No chr5 131409485 131411863 132073792 132076170 +PA26938 1438 HGNC:2435 ENSG00000198223 colony stimulating factor 2 receptor subunit alpha CSF2RA """alpha-GM-CSF receptor"", ""colony stimulating factor 2 receptor alpha subunit"", ""colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)""" CD116, CSF2R, alphaGMR Yes No Comparative Toxicogenomics Database:1438, Ensembl:ENSG00000198223, GenAtlas:CSF2RA, GeneCard:CSF2RA, HGNC:HGNC:2435, ModBase:P15509, NCBI Gene:1438, OMIM:300770, OMIM:306250, OMIM:425000, RefSeq DNA:NG_012280, RefSeq DNA:NT_167196, RefSeq DNA:NT_167204, RefSeq Protein:NP_001155001, RefSeq Protein:NP_001155002, RefSeq Protein:NP_001155003, RefSeq Protein:NP_001155004, RefSeq Protein:NP_006131, RefSeq Protein:NP_758448, RefSeq Protein:NP_758449, RefSeq Protein:NP_758450, RefSeq Protein:NP_758452, RefSeq RNA:NM_001161529, RefSeq RNA:NM_001161530, RefSeq RNA:NM_001161531, RefSeq RNA:NM_001161532, RefSeq RNA:NM_006140, RefSeq RNA:NM_172245, RefSeq RNA:NM_172246, RefSeq RNA:NM_172247, RefSeq RNA:NM_172249, RefSeq RNA:NR_027760, UCSC Genome Browser:NM_006140, UniProtKB:A7J003, UniProtKB:B4DW68, UniProtKB:P15509 No chrX 1387693 1428828 1268800 1325097 +PA26939 1439 HGNC:2436 ENSG00000100368 colony stimulating factor 2 receptor subunit beta CSF2RB """beta common cytokine receptor"", ""beta-GM-CSF receptor"", ""colony stimulating factor 2 receptor beta common subunit"", ""colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)""" CD131, IL3RB, IL5RB, betaGMR Yes No Comparative Toxicogenomics Database:1439, Ensembl:ENSG00000100368, GenAtlas:CSF2RB, GeneCard:CSF2RB, HGNC:HGNC:2436, HumanCyc Gene:HS02063, ModBase:P32927, NCBI Gene:1439, OMIM:138981, OMIM:265120, RefSeq DNA:NG_008040, RefSeq DNA:NT_011520, RefSeq Protein:NP_000386, RefSeq RNA:NM_000395, UCSC Genome Browser:NM_000395, UniProtKB:P32927, UniProtKB:Q6NSJ8 No chr22 37309639 37336491 36913574 36940449 +PA26940 23772 HGNC:2437 ENSG00000232254 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) pseudogene 1 CSF2RBP1 Yes No Comparative Toxicogenomics Database:23772, Ensembl:ENSG00000232254, GenAtlas:CSF2RB2, GeneCard:CSF2RBP1, HGNC:HGNC:2437, NCBI Gene:23772, RefSeq DNA:NG_002638, RefSeq DNA:NT_011520 No chr22 37346572 37349765 36950530 36953724 +PA26941 1440 HGNC:2438 ENSG00000108342 colony stimulating factor 3 CSF3 colony stimulating factor 3 (granulocyte), filgrastim, granulocyte colony stimulating factor, lenograstim, pluripoietin C17orf33, G-CSF, GCSF, MGC45931 Yes No Comparative Toxicogenomics Database:1440, Ensembl:ENSG00000108342, GenAtlas:CSF3, GeneCard:CSF3, HGNC:HGNC:2438, HumanCyc Gene:HS03088, ModBase:P09919, NCBI Gene:1440, OMIM:138970, RefSeq DNA:NT_010783, RefSeq Protein:NP_000750, RefSeq Protein:NP_001171618, RefSeq Protein:NP_757373, RefSeq Protein:NP_757374, RefSeq RNA:NM_000759, RefSeq RNA:NM_001178147, RefSeq RNA:NM_172219, RefSeq RNA:NM_172220, RefSeq RNA:NR_033662, UCSC Genome Browser:NM_000759, UniProtKB:A8MXR7, UniProtKB:P09919, UniProtKB:Q6FH65, UniProtKB:Q8N4W3 No chr17 38171614 38174066 40015361 40017813 +PA26942 1441 HGNC:2439 ENSG00000119535 colony stimulating factor 3 receptor CSF3R colony stimulating factor 3 receptor (granulocyte), granulocyte colony-stimulating factor receptor CD114, G-CSF-R, GCSFR Yes No Comparative Toxicogenomics Database:1441, Ensembl:ENSG00000119535, GenAtlas:CSF3R, GeneCard:CSF3R, HGNC:HGNC:2439, HumanCyc Gene:HS04305, ModBase:Q99062, NCBI Gene:1441, OMIM:138971, OMIM:162830, RefSeq DNA:NG_016270, RefSeq DNA:NT_032977, RefSeq Protein:NP_000751, RefSeq Protein:NP_724780, RefSeq Protein:NP_724781, RefSeq Protein:NP_758519, RefSeq RNA:NM_000760, RefSeq RNA:NM_156038, RefSeq RNA:NM_156039, RefSeq RNA:NM_172313, UCSC Genome Browser:NM_000760, UniProtKB:Q99062 No chr1 36931644 36948915 36466043 36483314 +PA162382829 55790 HGNC:24290 ENSG00000147408 chondroitin sulfate N-acetylgalactosaminyltransferase 1 CSGALNACT1 """chondroitin beta1,4 N-acetylgalactosaminyltransferase"", ""glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase""" CSGalNAcT-1, ChGn, FLJ11264 Yes No Ensembl:ENSG00000147408, GeneCard:CSGALNACT1, HGNC:HGNC:24290, HumanCyc Gene:HS07428, ModBase:Q8TDX6, NCBI Gene:55790, RefSeq DNA:NT_167187, RefSeq Protein:NP_001123990, RefSeq Protein:NP_060841, RefSeq RNA:NM_001130518, RefSeq RNA:NM_018371, RefSeq RNA:NR_024040, UniProtKB:B2RBE4, UniProtKB:Q8TDX6 No chr8 19261672 19540261 19404161 19757940 +PA162382854 55454 HGNC:24292 ENSG00000169826 chondroitin sulfate N-acetylgalactosaminyltransferase 2 CSGALNACT2 """chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"", ""glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase 2""" GALNACT-2, GALNACT2, MGC40204, PRO0082 Yes No Ensembl:ENSG00000169826, GeneCard:CSGALNACT2, HGNC:HGNC:24292, HumanCyc Gene:HS10013, ModBase:Q8N6G5, NCBI Gene:55454, RefSeq DNA:NT_033985, RefSeq Protein:NP_061060, RefSeq RNA:NM_018590, UniProtKB:Q8N6G5 No chr10 43633893 43680756 43138445 43185308 +PA26943 1442 HGNC:2440 ENSG00000136488 chorionic somatomammotropin hormone 1 CSH1 choriomammotropin, chorionic somatomammotropin A, chorionic somatomammotropin hormone 1 (placental lactogen), placental lactogen CSA, CSMT, FLJ75407, PL, hCS-A Yes No Comparative Toxicogenomics Database:1442, Ensembl:ENSG00000136488, GenAtlas:CSH1, GeneCard:CSH1, HGNC:HGNC:2440, HumanCyc Gene:HS06168, HumanCyc Gene:HS11517, NCBI Gene:1442, OMIM:150200, RefSeq DNA:NG_001334, RefSeq DNA:NT_010783, RefSeq Protein:NP_001308, RefSeq Protein:NP_072166, RefSeq Protein:NP_072167, RefSeq RNA:NM_001317, RefSeq RNA:NM_022640, RefSeq RNA:NM_022641, UCSC Genome Browser:NM_001317, UniProtKB:A6NFB4, UniProtKB:A8K6C2, UniProtKB:B1A4H2 No chr17 61972268 61974027 63894908 63896661 +PA26944 1443 HGNC:2441 ENSG00000213218 chorionic somatomammotropin hormone 2 CSH2 chorionic somatomammotropin B, placental lactogen CS-2, CSB, hCS-B Yes No Ensembl:ENSG00000213218, GenAtlas:CSH2, GeneCard:CSH2, HGNC:HGNC:2441, NCBI Gene:1443, OMIM:118820, RefSeq DNA:NG_001334, RefSeq DNA:NT_010783, RefSeq Protein:NP_066271, RefSeq Protein:NP_072170, RefSeq Protein:NP_072171, RefSeq RNA:NM_020991, RefSeq RNA:NM_022644, RefSeq RNA:NM_022645, UCSC Genome Browser:NM_020991, UniProtKB:A6NIT4, UniProtKB:B1A4H9, UniProtKB:P01243 No chr17 61949372 61951089 63872012 63873729 +PA26945 1444 HGNC:2442 ENSG00000204414 chorionic somatomammotropin hormone like 1 CSHL1 chorionic somatomammotropin CS-5, chorionic somatomammotropin hormone-like 1 CS-5, CSHP1, CSL, MGC149868, hCS-L Yes No Ensembl:ENSG00000204414, GenAtlas:CSHL1, GeneCard:CSHL1, HGNC:HGNC:2442, HumanCyc Gene:HS06169, ModBase:Q14406, NCBI Gene:1444, OMIM:603515, RefSeq DNA:NG_001334, RefSeq DNA:NT_010783, RefSeq Protein:NP_001309, RefSeq Protein:NP_072101, RefSeq Protein:NP_072102, RefSeq Protein:NP_072103, RefSeq RNA:NM_001318, RefSeq RNA:NM_022579, RefSeq RNA:NM_022580, RefSeq RNA:NM_022581, UCSC Genome Browser:NM_001318, UniProtKB:A6NKA8, UniProtKB:Q14406 No chr17 61986965 61988688 63909597 63911328 +PA26946 1445 HGNC:2444 ENSG00000103653 C-terminal Src kinase CSK c-src tyrosine kinase Yes Yes Comparative Toxicogenomics Database:1445, Ensembl:ENSG00000103653, GenAtlas:CSK, GeneCard:CSK, HGNC:HGNC:2444, HumanCyc Gene:HS02526, ModBase:P41240, NCBI Gene:1445, OMIM:124095, RefSeq DNA:NT_010194, RefSeq Protein:NP_001120662, RefSeq Protein:NP_004374, RefSeq RNA:NM_001127190, RefSeq RNA:NM_004383, UCSC Genome Browser:NM_004383, UniProtKB:A8K3B6, UniProtKB:B2R6Q4, UniProtKB:P41240 No chr15 75074425 75095539 74782064 74803198 +PA164722245 751071 HGNC:33113 ENSG00000214756 citrate synthase lysine methyltransferase CSKMT methyltransferase like 12 CS-KMT, METTL12, U99HG Yes No Ensembl:ENSG00000214756, GeneCard:METTL12, HGNC:HGNC:33113, NCBI Gene:751071, RefSeq DNA:NT_167190, RefSeq Protein:NP_001036694, RefSeq RNA:NM_001043229, UniProtKB:A8MUP2 No chr11 62432725 62434923 62665252 62667451 +PA26947 64478 HGNC:14026 ENSG00000183117 CUB and Sushi multiple domains 1 CSMD1 protein phosphatase 1, regulatory subunit 24 KIAA1890, PPP1R24 Yes Yes Ensembl:ENSG00000183117, GenAtlas:CSMD1, GeneCard:CSMD1, HGNC:HGNC:14026, HumanCyc Gene:HS09702, ModBase:Q96PZ7, NCBI Gene:64478, OMIM:608397, RefSeq DNA:NT_023736, RefSeq Protein:NP_150094, RefSeq RNA:NM_033225, UCSC Genome Browser:NM_033225, UniProtKB:Q96PZ7 No chr8 2792875 4852328 2935353 4995035 +PA134884681 114784 HGNC:19290 ENSG00000121904 CUB and Sushi multiple domains 2 CSMD2 KIAA1884 Yes Yes Comparative Toxicogenomics Database:114784, Ensembl:ENSG00000121904, GeneCard:CSMD2, HGNC:HGNC:19290, ModBase:Q9H4W1, NCBI Gene:114784, OMIM:608398, RefSeq DNA:NT_032977, RefSeq Protein:NP_443128, RefSeq RNA:NM_052896, UniProtKB:Q53TY4, UniProtKB:Q7Z408 No chr1 33979609 34631443 33513999 34165842 +PA134926063 114788 HGNC:19291 ENSG00000164796 CUB and Sushi multiple domains 3 CSMD3 Yes Yes Ensembl:ENSG00000164796, GeneCard:CSMD3, HGNC:HGNC:19291, ModBase:Q7Z407, NCBI Gene:114788, OMIM:608399, RefSeq DNA:NT_008046, RefSeq Protein:NP_443132, RefSeq Protein:NP_937756, RefSeq Protein:NP_937757, RefSeq RNA:NM_052900, RefSeq RNA:NM_198123, RefSeq RNA:NM_198124, UniProtKB:Q7Z407 No chr8 113235157 114449242 112222928 113437499 +PA26948 1446 HGNC:2445 ENSG00000126545 casein alpha s1 CSN1S1 CASA, CSN1 Yes No Comparative Toxicogenomics Database:1446, Ensembl:ENSG00000126545, GeneCard:CSN1S1, HGNC:HGNC:2445, HumanCyc Gene:HS05029, NCBI Gene:1446, OMIM:115450, RefSeq DNA:NT_022778, RefSeq Protein:NP_001020275, RefSeq Protein:NP_001881, RefSeq RNA:NM_001025104, RefSeq RNA:NM_001890, UCSC Genome Browser:NM_001890, UniProtKB:P47710 No chr4 70796799 70812288 69931062 69946570 +PA142672067 286828 HGNC:20230 ENSG00000234124 casein alpha s2-like A, pseudogene CSN1S2AP Yes No Ensembl:ENSG00000234124, GeneCard:CSN1S2AP, HGNC:HGNC:20230, NCBI Gene:286828, RefSeq DNA:NT_022778, RefSeq RNA:NR_003720 No chr4 70933103 70950990 70067386 70085273 +PA26950 1447 HGNC:2447 ENSG00000135222 casein beta CSN2 CASB Yes No Comparative Toxicogenomics Database:1447, Ensembl:ENSG00000135222, GenAtlas:CSN2, GeneCard:CSN2, HGNC:HGNC:2447, HumanCyc Gene:HS05969, ModBase:P05814, NCBI Gene:1447, OMIM:115460, RefSeq DNA:NT_022778, RefSeq Protein:NP_001882, RefSeq RNA:NM_001891, UCSC Genome Browser:NM_001891, UniProtKB:P05814 No chr4 70820974 70826726 69955256 69965762 +PA26949 1448 HGNC:2446 ENSG00000171209 casein kappa CSN3 CSN10 Yes No Comparative Toxicogenomics Database:1448, Ensembl:ENSG00000171209, GeneCard:CSN3, HGNC:HGNC:2446, HumanCyc Gene:HS10266, ModBase:P07498, NCBI Gene:1448, OMIM:601695, RefSeq DNA:NT_022778, RefSeq Protein:NP_005203, RefSeq RNA:NM_005212, UCSC Genome Browser:NM_005212, UniProtKB:P07498 No chr4 71108333 71117149 70238370 70251432 +PA26951 1452 HGNC:2451 ENSG00000113712 casein kinase 1 alpha 1 CSNK1A1 """casein kinase 1, alpha 1"", ""clock regulator kinase""" CK1, CK1a, CK1alpha, CKIa, CKIalpha Yes No Comparative Toxicogenomics Database:1452, Ensembl:ENSG00000113712, GenAtlas:CSNK1A1, GeneCard:CSNK1A1, HGNC:HGNC:2451, HumanCyc Gene:HS03709, ModBase:P48729, NCBI Gene:1452, OMIM:600505, RefSeq DNA:NT_029289, RefSeq Protein:NP_001020276, RefSeq Protein:NP_001883, RefSeq RNA:NM_001025105, RefSeq RNA:NM_001892, UCSC Genome Browser:NM_001892, UniProtKB:P48729, UniProtKB:Q05DL3, UniProtKB:Q6PJ06 No chr5 148873896 148931115 149495894 149551552 +PA134917108 122011 HGNC:20289 ENSG00000180138 casein kinase 1 alpha 1 like CSNK1A1L casein kinase 1, alpha 1-like MGC33182 Yes No Ensembl:ENSG00000180138, GeneCard:CSNK1A1L, HGNC:HGNC:20289, HumanCyc Gene:HS11453, ModBase:Q8N752, NCBI Gene:122011, RefSeq DNA:NT_024524, RefSeq Protein:NP_660204, RefSeq RNA:NM_145203, UniProtKB:Q8N752 No chr13 37677397 37679801 37103260 37105664 +PA165660302 100526776 HGNC:38669 ENSG00000250162 casein kinase 1, alpha 1 pseudogene 3 CSNK1A1P3 Yes No Ensembl:ENSG00000250162, HGNC:HGNC:38669, NCBI Gene:100526776 No chr5 98169086 98169412 98833380 98833908 +PA26952 1453 HGNC:2452 ENSG00000141551 casein kinase 1 delta CSNK1D casein kinase 1, delta CKID, CKIdelta, HCKID Yes No Comparative Toxicogenomics Database:1453, Ensembl:ENSG00000141551, GenAtlas:CSNK1D, GeneCard:CSNK1D, HGNC:HGNC:2452, HumanCyc Gene:HS06849, ModBase:P48730, NCBI Gene:1453, OMIM:600864, RefSeq DNA:NG_012828, RefSeq DNA:NT_010663, RefSeq Protein:NP_001884, RefSeq Protein:NP_620693, RefSeq RNA:NM_001893, RefSeq RNA:NM_139062, UCSC Genome Browser:NM_001893, UniProtKB:P48730 No chr17 80197523 80231594 82239317 82273742 +PA26953 1454 HGNC:2453 ENSG00000213923 casein kinase 1 epsilon CSNK1E casein kinase 1, epsilon CKIE, CKIepsilon, HCKIE Yes Yes Comparative Toxicogenomics Database:1454, Ensembl:ENSG00000213923, GenAtlas:CSNK1E, GeneCard:CSNK1E, HGNC:HGNC:2453, HumanCyc Gene:HS01994, ModBase:P49674, NCBI Gene:1454, OMIM:600863, RefSeq DNA:NG_016707, RefSeq DNA:NT_011520, RefSeq Protein:NP_001885, RefSeq Protein:NP_689407, RefSeq RNA:NM_001894, RefSeq RNA:NM_152221, UCSC Genome Browser:NM_001894, UniProtKB:P49674, UniProtKB:Q5U045 No chr22 38686697 38714089 38290691 38318084 +PA26954 53944 HGNC:2454 ENSG00000169118 casein kinase 1 gamma 1 CSNK1G1 casein kinase 1, gamma 1 CK1gamma1 Yes No Comparative Toxicogenomics Database:53944, Ensembl:ENSG00000169118, GenAtlas:CSNK1G1, GeneCard:CSNK1G1, HGNC:HGNC:2454, HumanCyc Gene:HS09885, ModBase:Q9HCP0, NCBI Gene:53944, OMIM:606274, RefSeq DNA:NT_010194, RefSeq Protein:NP_071331, RefSeq RNA:NM_022048, UCSC Genome Browser:NM_022048, UniProtKB:Q9HCP0 No chr15 64457716 64665968 64165517 64356243 +PA26955 1455 HGNC:2455 ENSG00000133275 casein kinase 1 gamma 2 CSNK1G2 casein kinase 1, gamma 2 CK1g2 Yes No Comparative Toxicogenomics Database:1455, Ensembl:ENSG00000133275, GenAtlas:CSNK1G2, GeneCard:CSNK1G2, HGNC:HGNC:2455, HumanCyc Gene:HS05754, ModBase:P78368, NCBI Gene:1455, OMIM:602214, RefSeq DNA:NT_011255, RefSeq Protein:NP_001310, RefSeq RNA:NM_001319, UCSC Genome Browser:NM_001319, UniProtKB:P78368 No chr19 1941148 1981337 1941149 1981338 +PA134889166 255193 HGNC:28604 ENSG00000180846 CSNK1G2 antisense RNA 1 CSNK1G2-AS1 MGC39696 Yes No Ensembl:ENSG00000180846, GeneCard:C19orf34, HGNC:HGNC:28604, HumanCyc Gene:HS17576, NCBI Gene:255193, RefSeq DNA:NT_011255, RefSeq Protein:NP_689984, RefSeq RNA:NM_152771, RefSeq RNA:NR_033400 No chr19 1952526 1954548 1952527 1954549 +PA26956 1456 HGNC:2456 ENSG00000151292 casein kinase 1 gamma 3 CSNK1G3 casein kinase 1, gamma 3 Yes No Comparative Toxicogenomics Database:1456, Ensembl:ENSG00000151292, GenAtlas:CSNK1G3, GeneCard:CSNK1G3, HGNC:HGNC:2456, HumanCyc Gene:HS07721, ModBase:Q9Y6M4, NCBI Gene:1456, OMIM:604253, RefSeq DNA:NT_034772, RefSeq Protein:NP_001026982, RefSeq Protein:NP_001038187, RefSeq Protein:NP_001038188, RefSeq Protein:NP_004375, RefSeq RNA:NM_001031812, RefSeq RNA:NM_001044722, RefSeq RNA:NM_001044723, RefSeq RNA:NM_004384, UCSC Genome Browser:NM_004384, UniProtKB:Q9Y6M4 No chr5 122847793 122952739 123512099 123617045 +PA26957 1457 HGNC:2457 ENSG00000101266 casein kinase 2 alpha 1 CSNK2A1 """Casein kinase II subunit alpha"", ""casein kinase 2, alpha 1 polypeptide""" Cka1, Cka2 Yes No Comparative Toxicogenomics Database:1457, Ensembl:ENSG00000101266, GenAtlas:CSNK2A1, GeneCard:CSNK2A1, HGNC:HGNC:2457, HumanCyc Gene:HS02228, ModBase:P68400, NCBI Gene:1457, OMIM:115440, RefSeq DNA:NG_011970, RefSeq DNA:NT_011387, RefSeq Protein:NP_001886, RefSeq Protein:NP_808227, RefSeq Protein:NP_808228, RefSeq RNA:NM_001895, RefSeq RNA:NM_177559, RefSeq RNA:NM_177560, UCSC Genome Browser:NM_001895, UniProtKB:B4DYS6, UniProtKB:P68400 No chr20 463338 524482 482694 543838 +PA26959 1459 HGNC:2459 ENSG00000070770 casein kinase 2 alpha 2 CSNK2A2 """casein kinase 2 alpha'"", ""casein kinase 2, alpha prime polypeptide""" CK2alpha', CSNK2A1 Yes No Comparative Toxicogenomics Database:1459, Ensembl:ENSG00000070770, GenAtlas:CSNK2A2, GeneCard:CSNK2A2, HGNC:HGNC:2459, HumanCyc Gene:HS01010, ModBase:P19784, NCBI Gene:1459, OMIM:115442, RefSeq DNA:NT_010498, RefSeq Protein:NP_001887, RefSeq RNA:NM_001896, UCSC Genome Browser:NM_001896, UniProtKB:P19784 No chr16 58191811 58231782 58157907 58198116 +PA166180598 111064647 HGNC:53637 ENSG00000283434 casein kinase 2 subunit alpha' interacting protein CSNK2A2IP casein kinase 2 alpha prime interacting protein CSNKA2IP Yes No Ensembl:ENSG00000283434, HGNC:HGNC:53637, NCBI Gene:111064647 No 0 0 0 0 +PA26958 283106 HGNC:2458 ENSG00000254598 casein kinase 2 alpha 3 CSNK2A3 casein kinase 2, alpha 3 polypeptide CSNK2A1P Yes No Ensembl:ENSG00000254598, GenAtlas:CSNK2A1P, GeneCard:CSNK2A1P, HGNC:HGNC:2458, NCBI Gene:283106, RefSeq DNA:NT_009237, RefSeq RNA:NR_002207 No chr11 11373489 11374904 11351942 11353357 +PA26960 1460 HGNC:2460 ENSG00000204435, ENSG00000206406, ENSG00000224398, ENSG00000224774, ENSG00000228875, ENSG00000230700, ENSG00000232960, ENSG00000263020 casein kinase 2 beta CSNK2B casein kinase 2, beta polypeptide Ckb1, Ckb2 Yes No Comparative Toxicogenomics Database:1460, Ensembl:ENSG00000204435, Ensembl:ENSG00000206406, Ensembl:ENSG00000224398, Ensembl:ENSG00000224774, Ensembl:ENSG00000228875, Ensembl:ENSG00000230700, Ensembl:ENSG00000232960, Ensembl:ENSG00000263020, GenAtlas:CSNK2B, GeneCard:CSNK2B, HGNC:HGNC:2460, HumanCyc Gene:HS03491, ModBase:P67870, NCBI Gene:1460, OMIM:115441, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001311, RefSeq RNA:NM_001320, UCSC Genome Browser:NM_001320, UniProtKB:B0UXA9, UniProtKB:P67870 No chr6 31632995 31637844 31665880 31670070 +PA26963 1464 HGNC:2466 ENSG00000173546 chondroitin sulfate proteoglycan 4 CSPG4 melanoma-associated chondroitin sulfate proteoglycan CSPG4A, HMW-MAA, MCSP, MCSPG, MEL-CSPG, MSK16, NG2 Yes Yes Comparative Toxicogenomics Database:1464, Ensembl:ENSG00000173546, GenAtlas:CSPG4, GeneCard:CSPG4, HGNC:HGNC:2466, HumanCyc Gene:HS10688, ModBase:Q6UVK1, NCBI Gene:1464, OMIM:601172, RefSeq DNA:NT_010194, RefSeq Protein:NP_001888, RefSeq RNA:NM_001897, UCSC Genome Browser:NM_001897, UniProtKB:Q6UVK1 No chr15 75966663 76005189 75674322 75712848 +PA26964 114758 HGNC:16478 ENSG00000240450 chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked CSPG4P1Y Yes No Ensembl:ENSG00000240450, GenAtlas:CSPG4LYP1, GeneCard:CSPG4P1Y, HGNC:HGNC:16478, NCBI Gene:114758, OMIM:400034, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_001554 No chrY 27629055 27632852 25482908 25486705 +PA142672065 84664 HGNC:32424 ENSG00000244231 chondroitin sulfate proteoglycan 4 pseudogene 2, Y-linked CSPG4P2Y melanoma associated chondroitin sulfate proteoglycan like Yes No Ensembl:ENSG00000244231, HGNC:HGNC:32424, NCBI Gene:84664, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_002194 No chrY 26329580 26333377 24183433 24187230 +PA26965 10675 HGNC:2467 ENSG00000114646 chondroitin sulfate proteoglycan 5 CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C), neuroglycan C NGC Yes No Comparative Toxicogenomics Database:10675, Ensembl:ENSG00000114646, GenAtlas:CSPG5, GeneCard:CSPG5, HGNC:HGNC:2467, HumanCyc Gene:HS03785, NCBI Gene:10675, OMIM:606775, RefSeq DNA:NT_022517, RefSeq Protein:NP_001193871, RefSeq Protein:NP_001193872, RefSeq Protein:NP_001193873, RefSeq Protein:NP_001193874, RefSeq Protein:NP_006565, RefSeq RNA:NM_001206942, RefSeq RNA:NM_001206943, RefSeq RNA:NM_001206944, RefSeq RNA:NM_001206945, RefSeq RNA:NM_006574, UCSC Genome Browser:NM_006574, UniProtKB:O95196 No chr3 47603728 47621730 47562238 47580240 +PA142672066 79848 HGNC:26193 ENSG00000104218 centrosome and spindle pole associated protein 1 CSPP1 CSPP, CSPP-L, FLJ22490, JBTS21 Yes No Comparative Toxicogenomics Database:79848, Ensembl:ENSG00000104218, GeneCard:CSPP1, HGNC:HGNC:26193, HumanCyc Gene:HS12545, NCBI Gene:79848, OMIM:611654, RefSeq DNA:NT_008183, RefSeq Protein:NP_001070672, RefSeq Protein:NP_079066, RefSeq RNA:NM_001077204, RefSeq RNA:NM_024790, UniProtKB:Q1MSJ5, UniProtKB:Q9H688 No chr8 67976588 68108849 67062417 67196614 +PA25200 64651 HGNC:14300 ENSG00000144655 cysteine and serine rich nuclear protein 1 CSRNP1 cysteine-serine-rich nuclear protein 1 AXUD1, DKFZp566F164, FAM130B, TAIP-3, URAX1 Yes No Comparative Toxicogenomics Database:64651, Ensembl:ENSG00000144655, GenAtlas:AXUD1, GeneCard:AXUD1, GeneCard:CSRNP1, HGNC:HGNC:14300, HumanCyc Gene:HS07188, ModBase:Q96S65, NCBI Gene:64651, OMIM:606458, RefSeq DNA:NT_022517, RefSeq Protein:NP_149016, RefSeq RNA:NM_033027, UCSC Genome Browser:NM_033027, UniProtKB:D6RBU1, UniProtKB:Q96S65 No chr3 39183342 39196093 39141851 39154602 +PA25503 81566 HGNC:16006 ENSG00000110925 cysteine and serine rich nuclear protein 2 CSRNP2 """cysteine-serine-rich nuclear protein 2"", ""protein phosphatase 1, regulatory subunit 72""" C12ORF2, C12orf22, FAM130A1, PPP1R72, TAIP-12 Yes No Comparative Toxicogenomics Database:81566, Ensembl:ENSG00000110925, GenAtlas:C12orf22, GeneCard:C12orf22, GeneCard:CSRNP2, HGNC:HGNC:16006, HumanCyc Gene:HS12731, NCBI Gene:81566, RefSeq DNA:NT_029419, RefSeq Protein:NP_110436, RefSeq RNA:NM_030809, UCSC Genome Browser:NM_030809, UniProtKB:Q9H175 No chr12 51454988 51477454 51061205 51083671 +PA164718184 80034 HGNC:30729 ENSG00000178662 cysteine and serine rich nuclear protein 3 CSRNP3 """TGF beta induced apotosis protein 2"", ""cysteine-serine-rich nuclear protein 3"", ""protein phosphatase 1, regulatory subunit 73""" FAM130A2, FLJ32093, PPP1R73, TAIP-2 Yes Yes Ensembl:ENSG00000178662, GeneCard:CSRNP3, HGNC:HGNC:30729, HumanCyc Gene:HS11304, ModBase:Q8WYN3, NCBI Gene:80034, RefSeq DNA:NT_005403, RefSeq Protein:NP_001165644, RefSeq Protein:NP_079245, RefSeq RNA:NM_001172173, RefSeq RNA:NM_024969, UniProtKB:Q8WYN3 No chr2 166326157 166545917 165469647 165689407 +PA26967 1465 HGNC:2469 ENSG00000159176 cysteine and glycine rich protein 1 CSRP1 cysteine and glycine-rich protein 1 CSRP, CYRP, D1S181E Yes No Comparative Toxicogenomics Database:1465, Ensembl:ENSG00000159176, GenAtlas:CSRP1, GeneCard:CSRP1, HGNC:HGNC:2469, HumanCyc Gene:HS08365, ModBase:P21291, NCBI Gene:1465, OMIM:123876, RefSeq DNA:NT_004487, RefSeq Protein:NP_001138245, RefSeq Protein:NP_001180499, RefSeq Protein:NP_001180500, RefSeq Protein:NP_001180501, RefSeq Protein:NP_004069, RefSeq RNA:NM_001144773, RefSeq RNA:NM_001193570, RefSeq RNA:NM_001193571, RefSeq RNA:NM_001193572, RefSeq RNA:NM_004078, UCSC Genome Browser:NM_004078, UniProtKB:B4E2T4, UniProtKB:P21291, UniProtKB:Q5U0J2 No chr1 201452658 201476387 201483530 201507259 +PA26968 1466 HGNC:2470 ENSG00000175183 cysteine and glycine rich protein 2 CSRP2 cysteine and glycine-rich protein 2 CRP2, LMO5, SmLIM Yes No Comparative Toxicogenomics Database:1466, Ensembl:ENSG00000175183, GenAtlas:CSRP2, GeneCard:CSRP2, HGNC:HGNC:2470, HumanCyc Gene:HS10890, ModBase:Q16527, NCBI Gene:1466, OMIM:601871, RefSeq DNA:NT_029419, RefSeq Protein:NP_001312, RefSeq RNA:NM_001321, UCSC Genome Browser:NM_001321, UniProtKB:Q16527 No chr12 77252495 77272814 76858715 76879040 +PA26971 8048 HGNC:2472 ENSG00000129170 cysteine and glycine rich protein 3 CSRP3 cardiac LIM protein, cysteine and glycine-rich protein 3 (cardiac LIM protein), muscle LIM protein CLP, CMD1M, MLP Yes Yes Comparative Toxicogenomics Database:8048, Ensembl:ENSG00000129170, GenAtlas:CSRP3, GeneCard:CSRP3, HGNC:HGNC:2472, HumanCyc Gene:HS05251, ModBase:P50461, NCBI Gene:8048, OMIM:600824, OMIM:607482, OMIM:612124, RefSeq DNA:NG_011932, RefSeq DNA:NT_009237, RefSeq Protein:NP_001121128, RefSeq Protein:NP_003467, RefSeq RNA:NM_001127656, RefSeq RNA:NM_003476, UCSC Genome Browser:NM_003476, UniProtKB:A2TDB8, UniProtKB:P50461 No chr11 19203577 19232118 19182030 19210571 +PA26972 1469 HGNC:2473 ENSG00000170373 cystatin SN CST1 Yes No Ensembl:ENSG00000170373, GenAtlas:CST1, GeneCard:CST1, HGNC:HGNC:2473, HumanCyc Gene:HS10116, ModBase:P01037, NCBI Gene:1469, OMIM:123855, RefSeq DNA:NG_000839, RefSeq DNA:NT_011387, RefSeq Protein:NP_001889, RefSeq RNA:NM_001898, UCSC Genome Browser:NM_001898, UniProtKB:P01037 No chr20 23728190 23731574 23747553 23750937 +PA26974 140880 HGNC:15959 ENSG00000125831 cystatin 11 CST11 CST8L, CTES2, dJ322G13.6 Yes No Ensembl:ENSG00000125831, GenAtlas:CST11, GeneCard:CST11, HGNC:HGNC:15959, HumanCyc Gene:HS04949, ModBase:Q9H112, NCBI Gene:140880, OMIM:609731, RefSeq DNA:NG_000839, RefSeq DNA:NT_011387, RefSeq Protein:NP_543020, RefSeq Protein:NP_570612, RefSeq RNA:NM_080830, RefSeq RNA:NM_130794, UCSC Genome Browser:NM_080830, UniProtKB:Q9H112 No chr20 23431041 23433482 23450404 23452845 +PA26975 1470 HGNC:2474 ENSG00000170369 cystatin SA CST2 cystatin 2 Yes No Ensembl:ENSG00000170369, GenAtlas:CST2, GeneCard:CST2, HGNC:HGNC:2474, HumanCyc Gene:HS10114, ModBase:P09228, NCBI Gene:1470, OMIM:123856, RefSeq DNA:NG_000839, RefSeq DNA:NT_011387, RefSeq Protein:NP_001313, RefSeq RNA:NM_001322, UCSC Genome Browser:NM_001322, UniProtKB:P09228 No chr20 23804404 23807312 23823767 23826675 +PA26976 1471 HGNC:2475 ENSG00000101439 cystatin C CST3 Yes No Comparative Toxicogenomics Database:1471, Ensembl:ENSG00000101439, GenAtlas:CST3, GeneCard:CST3, HGNC:HGNC:2475, HumanCyc Gene:HS02268, ModBase:P01034, NCBI Gene:1471, OMIM:105150, OMIM:604312, OMIM:611953, RefSeq DNA:NG_000839, RefSeq DNA:NG_012887, RefSeq DNA:NT_011387, RefSeq Protein:NP_000090, RefSeq RNA:NM_000099, UCSC Genome Browser:NM_000099, UniProtKB:P01034 No chr20 23608534 23618685 23627897 23638048 +PA26977 1472 HGNC:2476 ENSG00000101441 cystatin S CST4 Yes No Comparative Toxicogenomics Database:1472, Ensembl:ENSG00000101441, GenAtlas:CST4, GeneCard:CST4, HGNC:HGNC:2476, HumanCyc Gene:HS02270, ModBase:P01036, NCBI Gene:1472, OMIM:123857, RefSeq DNA:NG_000839, RefSeq DNA:NT_011387, RefSeq Protein:NP_001890, RefSeq RNA:NM_001899, UCSC Genome Browser:NM_001899, UniProtKB:P01036 No chr20 23666277 23669662 23685640 23689025 +PA26978 1473 HGNC:2477 ENSG00000170367 cystatin D CST5 Yes Yes Comparative Toxicogenomics Database:1473, Ensembl:ENSG00000170367, GenAtlas:CST5, GeneCard:CST5, HGNC:HGNC:2477, HumanCyc Gene:HS10113, ModBase:P28325, NCBI Gene:1473, OMIM:123858, RefSeq DNA:NG_000839, RefSeq DNA:NT_011387, RefSeq Protein:NP_001891, RefSeq RNA:NM_001900, UCSC Genome Browser:NM_001900, UniProtKB:P28325 No chr20 23856572 23860380 23875935 23879743 +PA26979 1474 HGNC:2478 ENSG00000175315 cystatin E/M CST6 Yes No Comparative Toxicogenomics Database:1474, Ensembl:ENSG00000175315, GenAtlas:CST6, GeneCard:CST6, HGNC:HGNC:2478, HumanCyc Gene:HS10909, ModBase:Q15828, NCBI Gene:1474, OMIM:601891, RefSeq DNA:NT_167190, RefSeq Protein:NP_001314, RefSeq RNA:NM_001323, UCSC Genome Browser:NM_001323, UniProtKB:Q15828 No chr11 65779462 65780976 66011991 66013505 +PA26980 8530 HGNC:2479 ENSG00000077984 cystatin F CST7 cystatin F (leukocystatin), leukocystatin Yes No Comparative Toxicogenomics Database:8530, Ensembl:ENSG00000077984, GenAtlas:CST7, GeneCard:CST7, HGNC:HGNC:2479, HumanCyc Gene:HS01264, ModBase:O76096, NCBI Gene:8530, OMIM:603253, RefSeq DNA:NT_011387, RefSeq Protein:NP_003641, RefSeq RNA:NM_003650, UCSC Genome Browser:NM_003650, UniProtKB:O76096 No chr20 24929866 24940564 24949230 24959928 +PA26981 10047 HGNC:2480 ENSG00000125815 cystatin 8 CST8 cystatin 8 (cystatin-related epididymal specific) CRES, CTES5 Yes No Comparative Toxicogenomics Database:10047, Ensembl:ENSG00000125815, GenAtlas:CST8, GeneCard:CST8, HGNC:HGNC:2480, HumanCyc Gene:HS04939, ModBase:O60676, NCBI Gene:10047, OMIM:608683, RefSeq DNA:NG_000839, RefSeq DNA:NT_011387, RefSeq Protein:NP_005483, RefSeq RNA:NM_005492, UCSC Genome Browser:NM_005492, UniProtKB:O60676 No chr20 23471766 23476655 23491077 23507124 +PA134898267 128822 HGNC:13261 ENSG00000173335 cystatin 9 CST9 cystatin 9 (testatin), testatin CLM, CTES7A Yes No Ensembl:ENSG00000173335, GeneCard:CST9, HGNC:HGNC:13261, ModBase:Q5W186, NCBI Gene:128822, RefSeq DNA:NG_000839, RefSeq DNA:NT_011387, RefSeq Protein:NP_001008693, RefSeq RNA:NM_001008693, UniProtKB:Q5W186 No chr20 23583047 23586610 23602410 23605973 +PA26982 128821 HGNC:16233 ENSG00000101435 cystatin 9 like CST9L cystatin 9-like CTES7B, bA218C14.1 Yes No Ensembl:ENSG00000101435, GenAtlas:CST9L, GeneCard:CST9L, HGNC:HGNC:16233, HumanCyc Gene:HS02266, ModBase:Q9H4G1, NCBI Gene:128821, RefSeq DNA:NG_000839, RefSeq DNA:NT_011387, RefSeq Protein:NP_542177, RefSeq RNA:NM_080610, UCSC Genome Browser:NM_080610, UniProtKB:Q9H4G1 No chr20 23545369 23549386 23564732 23568749 +PA26983 1475 HGNC:2481 ENSG00000121552 cystatin A CSTA cystatin A (stefin A), stefin A STF1, STFA Yes No Comparative Toxicogenomics Database:1475, Ensembl:ENSG00000121552, GenAtlas:CSTA, GeneCard:CSTA, HGNC:HGNC:2481, HumanCyc Gene:HS04502, ModBase:P01040, NCBI Gene:1475, OMIM:184600, RefSeq DNA:NT_005612, RefSeq Protein:NP_005204, RefSeq RNA:NM_005213, UCSC Genome Browser:NM_005213, UniProtKB:P01040, UniProtKB:Q6IB90 No chr3 122044011 122060816 122325164 122341969 +PA26984 1476 HGNC:2482 ENSG00000160213 cystatin B CSTB """Epilepsy, progressive myoclonic 1"", ""cystatin B (stefin B)"", ""stefin B""" CST6, EPM1, PME, STFB Yes No Comparative Toxicogenomics Database:1476, Ensembl:ENSG00000160213, GenAtlas:CSTB, GeneCard:CSTB, HGNC:HGNC:2482, HumanCyc Gene:HS08468, ModBase:P04080, NCBI Gene:1476, OMIM:254800, OMIM:601145, RefSeq DNA:NG_011545, RefSeq DNA:NT_011515, RefSeq Protein:NP_000091, RefSeq RNA:NM_000100, UCSC Genome Browser:NM_000100, UniProtKB:P04080, UniProtKB:Q76LA1 No chr21 45193546 45196256 43773665 43776375 +PA26985 1477 HGNC:2483 ENSG00000101138 cleavage stimulation factor subunit 1 CSTF1 cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa Yes No Ensembl:ENSG00000101138, GenAtlas:CSTF1, GeneCard:CSTF1, HGNC:HGNC:2483, HumanCyc Gene:HS02199, ModBase:Q05048, NCBI Gene:1477, OMIM:600369, RefSeq DNA:NT_011362, RefSeq Protein:NP_001028693, RefSeq Protein:NP_001028694, RefSeq Protein:NP_001315, RefSeq RNA:NM_001033521, RefSeq RNA:NM_001033522, RefSeq RNA:NM_001324, UCSC Genome Browser:NM_001324, UniProtKB:Q05048, UniProtKB:Q5QPD8 No chr20 54967427 54979582 56392371 56404526 +PA26986 1478 HGNC:2484 ENSG00000101811 cleavage stimulation factor subunit 2 CSTF2 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa CstF-64 Yes No Comparative Toxicogenomics Database:1478, Ensembl:ENSG00000101811, GenAtlas:CSTF2, GeneCard:CSTF2, HGNC:HGNC:2484, HumanCyc Gene:HS02303, ModBase:P33240, NCBI Gene:1478, OMIM:600368, RefSeq DNA:NG_015848, RefSeq DNA:NT_011651, RefSeq Protein:NP_001316, RefSeq RNA:NM_001325, UCSC Genome Browser:NM_001325, UniProtKB:P33240 No chrX 100075348 100095924 100820359 100841520 +PA134933809 23283 HGNC:17086 ENSG00000177613 cleavage stimulation factor subunit 2 tau variant CSTF2T cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant CstF-64T, DKFZp434C1013, KIAA0689, tauCstF-64 Yes No Comparative Toxicogenomics Database:23283, Ensembl:ENSG00000177613, GeneCard:CSTF2T, HGNC:HGNC:17086, HumanCyc Gene:HS11193, ModBase:Q9H0L4, NCBI Gene:23283, OMIM:611968, RefSeq DNA:NT_030059, RefSeq Protein:NP_056050, RefSeq RNA:NM_015235, UniProtKB:Q9H0L4 No chr10 53455246 53459355 51695486 51699595 +PA26987 1479 HGNC:2485 ENSG00000176102 cleavage stimulation factor subunit 3 CSTF3 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa CstF-77 Yes No Comparative Toxicogenomics Database:1479, Ensembl:ENSG00000176102, GenAtlas:CSTF3, GeneCard:CSTF3, HGNC:HGNC:2485, HumanCyc Gene:HS10999, ModBase:Q12996, NCBI Gene:1479, OMIM:600367, RefSeq DNA:NT_009237, RefSeq Protein:NP_001028677, RefSeq Protein:NP_001028678, RefSeq Protein:NP_001317, RefSeq RNA:NM_001033505, RefSeq RNA:NM_001033506, RefSeq RNA:NM_001326, UCSC Genome Browser:NM_001326, UniProtKB:Q12996, UniProtKB:Q96QK4 No chr11 33106130 33183037 33084584 33161491 +PA26988 128817 HGNC:15958 ENSG00000125823 cystatin like 1 CSTL1 cystatin-like 1 CTES1, dJ322G13.4 Yes No Ensembl:ENSG00000125823, GenAtlas:CSTL1, GeneCard:CSTL1, HGNC:HGNC:15958, HumanCyc Gene:HS04946, ModBase:Q9H114, NCBI Gene:128817, RefSeq DNA:NG_000839, RefSeq DNA:NT_011387, RefSeq Protein:NP_612140, RefSeq RNA:NM_138283, UCSC Genome Browser:NM_138283, UniProtKB:Q9H114 No chr20 23420322 23425567 23439685 23444930 +PA26989 1480 HGNC:2486 ENSG00000228476 cystatin pseudogene 1 CSTP1 dJ850N15.1 Yes No Ensembl:ENSG00000228476, GenAtlas:CSTP1, GeneCard:CSTP1, HGNC:HGNC:2486, NCBI Gene:1480, RefSeq DNA:NG_001020, RefSeq DNA:NT_011387 No chr20 23899408 23902806 23918771 23922169 +PA26990 1481 HGNC:2487 ENSG00000277975 cystatin pseudogene 2 CSTP2 Yes No Ensembl:ENSG00000277975, GenAtlas:CSTP2, GeneCard:CSTP2, HGNC:HGNC:2487, NCBI Gene:1481, RefSeq DNA:NG_000839, RefSeq DNA:NT_011387 No chr20 23753496 23756806 23772859 23776169 +PA166352433 79096 HGNC:28720 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 CSTPP1 C11orf49, centriolar satellite-associated tubulin polyglutamylation protein 1 FLJ22210, MGC4707 Yes No HGNC:HGNC:28720, NCBI Gene:79096 No 0 0 0 0 +PA164718185 541466 HGNC:33267 ENSG00000268940 cancer/testis antigen family 45 member A1 CT45A1 """cancer/testis antigen CT45-1"", ""cancer/testis antigen family 45, member A1""" CT45-1, CT45.1 Yes No Ensembl:ENSG00000268940, GeneCard:CT45A1, HGNC:HGNC:33267, NCBI Gene:541466, OMIM:300648, RefSeq DNA:NT_011786, RefSeq Protein:NP_001017417, RefSeq RNA:NM_001017417, UniProtKB:Q5HYN5 No chrX 134847185 134856988 135708398 135723318 +PA166123682 102723631 HGNC:51263 ENSG00000269586 cancer/testis antigen family 45 member A10 CT45A10 cancer/testis antigen family 45, member A10 Yes No Ensembl:ENSG00000269586, HGNC:HGNC:51263, NCBI Gene:102723631 No +PA164718186 728911 HGNC:28400 ENSG00000271449 cancer/testis antigen family 45 member A2 CT45A2 """cancer/testis antigen CT45-2"", ""cancer/testis antigen family 45, member A2""" CT45-2, CT45.2 Yes No Ensembl:ENSG00000271449, GeneCard:CT45A2, HGNC:HGNC:28400, NCBI Gene:728911, OMIM:300793, RefSeq DNA:NG_021269, RefSeq DNA:NT_011786, RefSeq Protein:NP_689795, RefSeq RNA:NM_152582, UniProtKB:Q5DJT8 No chrX 134856887 134874268 135811979 135820062 +PA164718201 441519 HGNC:33268 ENSG00000269096 cancer/testis antigen family 45 member A3 CT45A3 """cancer/testis antigen CT45-3"", ""cancer/testis antigen family 45, member A3""" CT45-3, CT45-4, CT45.3, CT45.4, CT45A4 Yes No Ensembl:ENSG00000269096, GeneCard:CT45A3, HGNC:HGNC:33268, NCBI Gene:441519, OMIM:300794, RefSeq DNA:NT_011786, RefSeq Protein:NP_001017435, RefSeq RNA:NM_001017435, UniProtKB:Q8NHU0 No chrX 134874147 134891521 135760067 135768222 +PA164718203 441521 HGNC:33270 ENSG00000228836 cancer/testis antigen family 45 member A5 CT45A5 """cancer/testis antigen CT45-5"", ""cancer/testis antigen family 45, member A5""" CT45-5, CT45.5 Yes No Ensembl:ENSG00000228836, GeneCard:CT45A5, HGNC:HGNC:33270, NCBI Gene:441521, OMIM:300796, RefSeq DNA:NG_016551, RefSeq DNA:NT_011786, RefSeq Protein:NP_001007552, RefSeq Protein:NP_001165759, RefSeq RNA:NM_001007551, RefSeq RNA:NM_001172288, UniProtKB:Q6NSH3 No chrX 134945651 134963316 135777130 135785512 +PA164718204 541465 HGNC:33271 ENSG00000278289 cancer/testis antigen family 45 member A6 CT45A6 """cancer/testis antigen CT45-6"", ""cancer/testis antigen family 45, member A6""" CT45-6, CT45.6 Yes No Ensembl:ENSG00000278289, GeneCard:CT45A6, HGNC:HGNC:33271, NCBI Gene:541465, OMIM:300797, RefSeq DNA:NT_011786, RefSeq Protein:NP_001017438, RefSeq Protein:XP_002346378, RefSeq RNA:NM_001017438, RefSeq RNA:XM_002346337, UniProtKB:Q8N7B7 No chrX 134963213 134971244 135794687 135802755 +PA166123679 101060211 HGNC:51260 ENSG00000273696 cancer/testis antigen family 45 member A7 CT45A7 cancer/testis antigen family 45, member A7 Yes No Ensembl:ENSG00000273696, HGNC:HGNC:51260, NCBI Gene:101060211 No +PA166123680 102723737 HGNC:51261 ENSG00000278085 cancer/testis antigen family 45 member A8 CT45A8 cancer/testis antigen family 45, member A8 Yes No Ensembl:ENSG00000278085, HGNC:HGNC:51261, NCBI Gene:102723737 No +PA166123681 102723680 HGNC:51262 ENSG00000270946 cancer/testis antigen family 45 member A9 CT45A9 cancer/testis antigen family 45, member A9 Yes No Ensembl:ENSG00000270946, HGNC:HGNC:51262, NCBI Gene:102723680 No +PA164718205 100337646 HGNC:33580 cancer/testis antigen family 45, member B1 pseudogene CT45B1P Yes No HGNC:HGNC:33580, NCBI Gene:100337646 No chr5 109175650 109176398 109839949 109840697 +PA164718206 728096 HGNC:33282 ENSG00000224089, ENSG00000226023, ENSG00000226600, ENSG00000226685, ENSG00000226929, ENSG00000228517, ENSG00000230347, ENSG00000230594, ENSG00000236126, ENSG00000236371, ENSG00000237957, ENSG00000242362 cancer/testis antigen family 47 member A1 CT47A1 """cancer/testis CT47 family, member 1"", ""cancer/testis antigen family 47, member A1""" CT47.1 Yes No Ensembl:ENSG00000224089, Ensembl:ENSG00000226023, Ensembl:ENSG00000226600, Ensembl:ENSG00000226685, Ensembl:ENSG00000226929, Ensembl:ENSG00000228517, Ensembl:ENSG00000230347, Ensembl:ENSG00000230594, Ensembl:ENSG00000236126, Ensembl:ENSG00000236371, Ensembl:ENSG00000237957, Ensembl:ENSG00000242362, GeneCard:CT47A1, HGNC:HGNC:33282, NCBI Gene:728096, OMIM:300780, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073615, RefSeq RNA:NM_001080146, UniProtKB:Q5JQC4 No chrX 120116320 120119638 120982466 120985886 +PA164718217 728036 HGNC:33291 ENSG00000224089 cancer/testis antigen family 47 member A10 CT47A10 """cancer/testis CT47 family, member 10"", ""cancer/testis antigen family 47, member A10""" CT47.10 Yes No Ensembl:ENSG00000224089, GeneCard:CT47A10, HGNC:HGNC:33291, NCBI Gene:728036, OMIM:300789, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073606, RefSeq RNA:NM_001080137 No chrX 120072555 120075873 120938701 120942121 +PA164718228 255313 HGNC:27397 ENSG00000224089, ENSG00000226023, ENSG00000226600, ENSG00000226685, ENSG00000226929, ENSG00000228517, ENSG00000230347, ENSG00000230594, ENSG00000236126, ENSG00000236371, ENSG00000237957, ENSG00000242362 cancer/testis antigen family 47 member A11 CT47A11 """cancer/testis CT47 family, member 11"", ""cancer/testis antigen family 47, member A11""" CT47.11 Yes No Ensembl:ENSG00000224089, Ensembl:ENSG00000226023, Ensembl:ENSG00000226600, Ensembl:ENSG00000226685, Ensembl:ENSG00000226929, Ensembl:ENSG00000228517, Ensembl:ENSG00000230347, Ensembl:ENSG00000230594, Ensembl:ENSG00000236126, Ensembl:ENSG00000236371, Ensembl:ENSG00000237957, Ensembl:ENSG00000242362, GeneCard:CT47A11, HGNC:HGNC:27397, NCBI Gene:255313, OMIM:300592, RefSeq DNA:NT_011786, RefSeq Protein:NP_775842, RefSeq RNA:NM_173571 No chrX 120067694 120071012 120933840 120937260 +PA166049011 100507170 HGNC:33292 ENSG00000226685 cancer/testis antigen family 47 member A12 CT47A12 """cancer/testis CT47 family, member 12"", ""cancer/testis antigen family 47, member A12""" CT47.12 Yes No Ensembl:ENSG00000226685, HGNC:HGNC:33292, NCBI Gene:100507170 No chrX 120011344 120066151 120877490 120932399 +PA164718239 728090 HGNC:33283 ENSG00000242362 cancer/testis antigen family 47 member A2 CT47A2 """cancer/testis CT47 family, member 2"", ""cancer/testis antigen family 47, member A2""" CT47.2 Yes No Ensembl:ENSG00000242362, GeneCard:CT47A2, HGNC:HGNC:33283, NCBI Gene:728090, OMIM:300781, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073614, RefSeq RNA:NM_001080145 No chrX 120111460 120114778 120977606 120981026 +PA164718250 728082 HGNC:33284 ENSG00000236126 cancer/testis antigen family 47 member A3 CT47A3 """cancer/testis CT47 family, member 3"", ""cancer/testis antigen family 47, member A3""" CT47.3 Yes No Ensembl:ENSG00000236126, GeneCard:CT47A3, HGNC:HGNC:33284, NCBI Gene:728082, OMIM:300782, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073613, RefSeq RNA:NM_001080144 No chrX 120106600 120109918 120972746 120976166 +PA164718261 728075 HGNC:33285 ENSG00000224089, ENSG00000226023, ENSG00000226600, ENSG00000226685, ENSG00000226929, ENSG00000228517, ENSG00000230347, ENSG00000230594, ENSG00000236126, ENSG00000236371, ENSG00000237957, ENSG00000242362 cancer/testis antigen family 47 member A4 CT47A4 """cancer/testis CT47 family, member 4"", ""cancer/testis antigen family 47, member A4""" CT47.4 Yes No Ensembl:ENSG00000224089, Ensembl:ENSG00000226023, Ensembl:ENSG00000226600, Ensembl:ENSG00000226685, Ensembl:ENSG00000226929, Ensembl:ENSG00000228517, Ensembl:ENSG00000230347, Ensembl:ENSG00000230594, Ensembl:ENSG00000236126, Ensembl:ENSG00000236371, Ensembl:ENSG00000237957, Ensembl:ENSG00000242362, GeneCard:CT47A4, HGNC:HGNC:33285, NCBI Gene:728075, OMIM:300783, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073612, RefSeq RNA:NM_001080143 No chrX 120101740 120105058 120967886 120971306 +PA164718272 728072 HGNC:33286 ENSG00000237957 cancer/testis antigen family 47 member A5 CT47A5 """cancer/testis CT47 family, member 5"", ""cancer/testis antigen family 47, member A5""" CT47.5 Yes No Ensembl:ENSG00000237957, GeneCard:CT47A5, HGNC:HGNC:33286, NCBI Gene:728072, OMIM:300784, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073611, RefSeq RNA:NM_001080142 No chrX 120096880 120100198 120963026 120966446 +PA164718283 728062 HGNC:33287 ENSG00000224089, ENSG00000226023, ENSG00000226600, ENSG00000226685, ENSG00000226929, ENSG00000228517, ENSG00000230347, ENSG00000230594, ENSG00000236126, ENSG00000236371, ENSG00000237957, ENSG00000242362 cancer/testis antigen family 47 member A6 CT47A6 """cancer/testis CT47 family, member 6"", ""cancer/testis antigen family 47, member A6""" CT47.6 Yes No Ensembl:ENSG00000224089, Ensembl:ENSG00000226023, Ensembl:ENSG00000226600, Ensembl:ENSG00000226685, Ensembl:ENSG00000226929, Ensembl:ENSG00000228517, Ensembl:ENSG00000230347, Ensembl:ENSG00000230594, Ensembl:ENSG00000236126, Ensembl:ENSG00000236371, Ensembl:ENSG00000237957, Ensembl:ENSG00000242362, GeneCard:CT47A6, HGNC:HGNC:33287, NCBI Gene:728062, OMIM:300785, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073610, RefSeq RNA:NM_001080141 No chrX 120092019 120095337 120958165 120961588 +PA164718294 653282 HGNC:33288 ENSG00000228517 cancer/testis antigen family 47 member A7 CT47A7 """cancer/testis CT47 family, member 7"", ""cancer/testis antigen family 47, member A7""" CT47.7 Yes No Ensembl:ENSG00000228517, GeneCard:CT47A7, HGNC:HGNC:33288, NCBI Gene:653282, OMIM:300786, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073609, RefSeq RNA:NM_001080140 No chrX 120087136 120090454 120953282 120956600 +PA164718305 728049 HGNC:33289 ENSG00000230347 cancer/testis antigen family 47 member A8 CT47A8 """cancer/testis CT47 family, member 8"", ""cancer/testis antigen family 47, member A8""" CT47.8 Yes No Ensembl:ENSG00000230347, GeneCard:CT47A8, HGNC:HGNC:33289, NCBI Gene:728049, OMIM:300787, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073608, RefSeq RNA:NM_001080139 No chrX 120082276 120085594 120948422 120951842 +PA164718316 728042 HGNC:33290 ENSG00000226600 cancer/testis antigen family 47 member A9 CT47A9 """cancer/testis CT47 family, member 9"", ""cancer/testis antigen family 47, member A9""" CT47.9 Yes No Ensembl:ENSG00000226600, GeneCard:CT47A9, HGNC:HGNC:33290, NCBI Gene:728042, OMIM:300788, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073607, RefSeq RNA:NM_001080138 No chrX 120077415 120080733 120943561 120946981 +PA164718327 643311 HGNC:33293 ENSG00000236446 cancer/testis antigen family 47 member B1 CT47B1 """cancer/testis CT47 family, member 13"", ""cancer/testis antigen family 47, member B1""" CT47.13 Yes No Ensembl:ENSG00000236446, GeneCard:CT47B1, HGNC:HGNC:33293, NCBI Gene:643311, OMIM:300790, RefSeq DNA:NT_011786, RefSeq Protein:NP_001139190, RefSeq RNA:NM_001145718, UniProtKB:P0C2W7 No chrX 120006451 120009779 120872554 120875925 +PA166352434 727838 HGNC:53820 cancer/testis antigen family 47 member C1 CT47C1 Yes No HGNC:HGNC:53820, NCBI Gene:727838 No 0 0 0 0 +PA134977669 54967 HGNC:26047 ENSG00000169551 cancer/testis antigen 55 CT55 cancer/testis antigen 55, chromosome X open reading frame 48 CT55, CXorf48, FLJ20527 Yes No Ensembl:ENSG00000169551, GeneCard:CXorf48, HGNC:HGNC:26047, HumanCyc Gene:HS15784, ModBase:Q8WUE5, NCBI Gene:54967, RefSeq DNA:NT_011786, RefSeq Protein:NP_001026875, RefSeq Protein:NP_060333, RefSeq RNA:NM_001031705, RefSeq RNA:NM_017863, UniProtKB:Q8WUE5 No chrX 134290461 134305751 135156536 135171827 +PA165478559 196993 HGNC:27286 ENSG00000225362 cancer/testis antigen 62 CT62 Yes No Ensembl:ENSG00000225362, GeneCard:CT62, HGNC:HGNC:27286, NCBI Gene:196993, RefSeq DNA:NT_010194, RefSeq Protein:NP_001096128, RefSeq RNA:NM_001102658, UniProtKB:P0C5K7 No chr15 71402583 71407929 71110244 71115551 +PA162383081 203413 HGNC:33494 ENSG00000204019 cancer/testis antigen 83 CT83 Kita-kyushu lung cancer antigen 1, cancer/testis antigen 83, chromosome X open reading frame 61 CT83, CXorf61, FLJ20611, FLJ22913, KK-LC-1 Yes No Ensembl:ENSG00000204019, GeneCard:CXorf61, HGNC:HGNC:33494, NCBI Gene:203413, OMIM:300625, RefSeq DNA:NT_028405, RefSeq Protein:NP_001017978, RefSeq RNA:NM_001017978, UniProtKB:Q5H943 No chrX 115592853 115594194 116461686 116463033 +PA134979749 246100 HGNC:24198 ENSG00000183678, ENSG00000184033 cancer/testis antigen 1A CTAG1A ESO1, LAGE2A Yes No Ensembl:ENSG00000183678, Ensembl:ENSG00000184033, GeneCard:CTAG1A, HGNC:HGNC:24198, NCBI Gene:246100, OMIM:300657, RefSeq DNA:NT_167198, RefSeq Protein:NP_640343, RefSeq RNA:NM_139250, UniProtKB:P78358 No chrX 153813418 153815075 154585154 154586816 +PA26993 1485 HGNC:2491 ENSG00000184033 cancer/testis antigen 1B CTAG1B CT6.1, CTAG, CTAG1, ESO1, LAGE2A, LAGE2B, NY-ESO-1 Yes No Ensembl:ENSG00000184033, GenAtlas:CTAG1B, GeneCard:CTAG1B, HGNC:HGNC:2491, ModBase:P78358, NCBI Gene:1485, OMIM:300156, RefSeq DNA:NT_167198, RefSeq Protein:NP_001318, RefSeq RNA:NM_001327, UCSC Genome Browser:NM_001327 No chrX 153845865 153847522 154617609 154619271 +PA26994 30848 HGNC:2492 ENSG00000126890 cancer/testis antigen 2 CTAG2 """CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b""" CAMEL, CT6.2a, CT6.2b, ESO2, LAGE-1, LAGE-1a, LAGE-1b, LAGE1, MGC138724, MGC3803 Yes No Ensembl:ENSG00000126890, GenAtlas:CTAG2, GeneCard:CTAG2, HGNC:HGNC:2492, NCBI Gene:30848, OMIM:300396, RefSeq DNA:NG_021275, RefSeq DNA:NT_167198, RefSeq Protein:NP_066274, RefSeq Protein:NP_758965, RefSeq RNA:NM_020994, RefSeq RNA:NM_172377, UCSC Genome Browser:NM_020994, UniProtKB:O75638 No chrX 153880246 153881853 154651972 154653579 +PA134933936 64693 HGNC:24346 ENSG00000212710 cutaneous T cell lymphoma-associated antigen 1 CTAGE1 """cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"", ""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2""" CT21.1, CT21.2, CTAGE, cTAGE-1, cTAGE-2 Yes No Ensembl:ENSG00000212710, GeneCard:CTAGE1, HGNC:HGNC:24346, ModBase:Q96RT6, NCBI Gene:64693, OMIM:608856, RefSeq DNA:NT_010966, RefSeq Protein:NP_758441, RefSeq RNA:NM_172241, UniProtKB:Q8NEG8, UniProtKB:Q96RT6 No chr18 19993564 19997878 22413601 22417915 +PA166049030 441294 HGNC:37295 ENSG00000271079 CTAGE family member 15 CTAGE15 CTAGE family, member 15 CTAGE15P Yes No Ensembl:ENSG00000271079, HGNC:HGNC:37295, NCBI Gene:441294 No chr7 143268894 143271480 143571801 143574387 +PA134918814 220112 HGNC:24348 ENSG00000232872 CTAGE family, member 3, pseudogene CTAGE3P cutaneous T-cell lymphoma-associated antigen 3 cTAGE-3 Yes No Ensembl:ENSG00000232872, HGNC:HGNC:24348, NCBI Gene:220112, OMIM:608857, RefSeq DNA:NG_006514, RefSeq DNA:NT_024524, RefSeq RNA:XM_941700 No chr13 52481956 52484889 51907820 51910559 +PA134946406 100128553 HGNC:24772 ENSG00000288784 CTAGE family member 4 CTAGE4 """CTAGE family, member 4"", ""cutaneous T-cell lymphoma-associated antigen 4""" FLJ43692, cTAGE-4 Yes No Ensembl:ENSG00000288784, GeneCard:CTAGE4, HGNC:HGNC:24772, ModBase:Q8IX94, NCBI Gene:100128553, OMIM:608910, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_940897, RefSeq RNA:NM_198495, UniProtKB:Q8IX94 No chr7 143880548 143883173 144183455 144186080 +PA165617921 340307 HGNC:28644 ENSG00000271321 CTAGE family member 6 CTAGE6 CTAGE family, member 6 CTAGE6P, MGC41943 Yes No Ensembl:ENSG00000271321, GeneCard:CTAGE6P, HGNC:HGNC:28644, ModBase:Q86UF2, NCBI Gene:340307, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_848656, RefSeq RNA:NM_178561, RefSeq RNA:XM_498461, RefSeq RNA:XM_499498, UniProtKB:Q86UF2 No chr7 143452182 143454843 143755089 143757750 +PA134902516 119437 HGNC:25111 ENSG00000233122 CTAGE family, member 7, pseudogene CTAGE7P meningioma expressed antigen 6 (coiled-coil proline-rich) pseudogene MGC33437, bA500G10.2, rcCTAGE5 Yes No Ensembl:ENSG00000233122, HGNC:HGNC:25111, NCBI Gene:119437, RefSeq DNA:NG_006973, RefSeq DNA:NT_008818 No chr10 131904273 131907102 130106009 130108838 +PA166123683 100142659 HGNC:37294 ENSG00000289604 CTAGE family member 8 CTAGE8 CTAGE family, member 8 Yes No Ensembl:ENSG00000289604, HGNC:HGNC:37294, NCBI Gene:100142659 No chr7 +PA165617886 643854 HGNC:37275 ENSG00000236761 CTAGE family member 9 CTAGE9 CTAGE family, member 9 Yes No Ensembl:ENSG00000236761, GeneCard:CTAGE9, HGNC:HGNC:37275, NCBI Gene:643854, RefSeq DNA:NT_025741, RefSeq DNA:NT_079596, RefSeq Protein:NP_001139131, RefSeq RNA:NM_001145659, UniProtKB:A4FU28 No chr6 132029581 132032157 131708441 131711017 +PA26995 1487 HGNC:2494 ENSG00000159692 C-terminal binding protein 1 CTBP1 brefeldin A-ribosylated substrate BARS Yes No Comparative Toxicogenomics Database:1487, Ensembl:ENSG00000159692, GenAtlas:CTBP1, GeneCard:CTBP1, HGNC:HGNC:2494, HumanCyc Gene:HS08416, ModBase:Q13363, NCBI Gene:1487, OMIM:602618, RefSeq DNA:NT_037622, RefSeq Protein:NP_001012632, RefSeq Protein:NP_001319, RefSeq RNA:NM_001012614, RefSeq RNA:NM_001328, UCSC Genome Browser:NM_001328, UniProtKB:Q13363, UniProtKB:Q7Z2Q5 No chr4 1205228 1242908 1211440 1250329 +PA26996 1488 HGNC:2495 ENSG00000175029 C-terminal binding protein 2 CTBP2 ribeye Yes Yes Comparative Toxicogenomics Database:1488, Ensembl:ENSG00000175029, GenAtlas:CTBP2, GeneCard:CTBP2, HGNC:HGNC:2495, HumanCyc Gene:HS10868, ModBase:P56545, NCBI Gene:1488, OMIM:602619, RefSeq DNA:NT_030059, RefSeq Protein:NP_001077383, RefSeq Protein:NP_001320, RefSeq Protein:NP_073713, RefSeq RNA:NM_001083914, RefSeq RNA:NM_001329, RefSeq RNA:NM_022802, UCSC Genome Browser:NM_001329, UniProtKB:P56545 No chr10 126676418 126849624 124987849 125161061 +PA26997 1486 HGNC:2496 ENSG00000117151 chitobiase CTBS """chitobiase, di-N-acetyl-"", ""di-N-acetylchitobiase""" CTB Yes No Comparative Toxicogenomics Database:1486, Ensembl:ENSG00000117151, GenAtlas:CTBS, GeneCard:CTBS, HGNC:HGNC:2496, HumanCyc Gene:HS04100, ModBase:Q01459, NCBI Gene:1486, OMIM:600873, RefSeq DNA:NT_032977, RefSeq Protein:NP_004379, RefSeq RNA:NM_004388, UCSC Genome Browser:NM_004388, UniProtKB:Q01459, UniProtKB:Q5VX50, UniProtKB:Q8TC97 No chr1 85018804 85048039 84553121 84574480 +PA142672251 80169 HGNC:26169 ENSG00000178971 CST telomere replication complex component 1 CTC1 CTS telomere maintenance complex component 1, alpha accessory factor 132, conserved telomere capping protein 1, conserved telomere maintenance component 1 AAF132, C17orf68, FLJ22170 Yes No Ensembl:ENSG00000178971, GeneCard:C17orf68, HGNC:HGNC:26169, HumanCyc Gene:HS17168, NCBI Gene:80169, OMIM:613129, RefSeq DNA:NT_010718, RefSeq Protein:NP_079375, RefSeq RNA:NM_025099, UniProtKB:Q2NKJ3 No chr17 8128139 8151413 8224821 8248095 +PA26998 10664 HGNC:13723 ENSG00000102974 CCCTC-binding factor CTCF 11 zinc finger transcriptional repressor, CCCTC-binding factor (zinc finger protein) CFAP108, FAP108 Yes No Comparative Toxicogenomics Database:10664, Ensembl:ENSG00000102974, GenAtlas:CTCF, GeneCard:CTCF, HGNC:HGNC:13723, HumanCyc Gene:HS02436, ModBase:P49711, NCBI Gene:10664, OMIM:604167, RefSeq DNA:NT_010498, RefSeq Protein:NP_001177951, RefSeq Protein:NP_006556, RefSeq RNA:NM_001191022, RefSeq RNA:NM_006565, UCSC Genome Browser:NM_006565, UniProtKB:P49711 No chr16 67596310 67673088 67562407 67639185 +PA26999 140690 HGNC:16234 ENSG00000124092 CCCTC-binding factor like CTCFL CCCTC-binding factor (zinc finger protein)-like, brother of the regulator of imprinted sites, cancer/testis antigen 27, transcriptional repressor CTCFL BORIS, CT27, dJ579F20.2 Yes No Ensembl:ENSG00000124092, GenAtlas:CTCFL, GeneCard:CTCFL, HGNC:HGNC:16234, HumanCyc Gene:HS13106, ModBase:Q8NI51, NCBI Gene:140690, OMIM:607022, RefSeq DNA:NT_011362, RefSeq Protein:NP_542185, RefSeq RNA:NM_080618, UCSC Genome Browser:NM_080618, UniProtKB:Q8NI51 No chr20 56071021 56100708 57495965 57525652 +PA134937999 23399 HGNC:19085 ENSG00000175826 CTD nuclear envelope phosphatase 1 CTDNEP1 C-terminal domain nuclear envelope phosphatase 1 DULLARD, HSA011916, NET56 Yes No Comparative Toxicogenomics Database:23399, Ensembl:ENSG00000175826, GeneCard:DULLARD, HGNC:HGNC:19085, HumanCyc Gene:HS16522, ModBase:O95476, NCBI Gene:23399, OMIM:610684, RefSeq DNA:NT_010718, RefSeq Protein:NP_001137247, RefSeq Protein:NP_056158, RefSeq RNA:NM_001143775, RefSeq RNA:NM_015343, UniProtKB:O95476 No chr17 7146906 7155259 7243587 7251940 +PA27001 9150 HGNC:2498 ENSG00000060069 CTD phosphatase subunit 1 CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 FCP1 Yes Yes Comparative Toxicogenomics Database:9150, Ensembl:ENSG00000060069, GenAtlas:CTDP1, GeneCard:CTDP1, HGNC:HGNC:2498, HumanCyc Gene:HS00738, ModBase:Q9Y5B0, NCBI Gene:9150, OMIM:604168, OMIM:604927, RefSeq DNA:NG_007988, RefSeq DNA:NT_025028, RefSeq Protein:NP_001189433, RefSeq Protein:NP_004706, RefSeq Protein:NP_430255, RefSeq RNA:NM_001202504, RefSeq RNA:NM_004715, RefSeq RNA:NM_048368, UCSC Genome Browser:NM_004715, UniProtKB:Q9Y5B0 No chr18 77439801 77514510 79679801 79754510 +PA134938848 58190 HGNC:21614 ENSG00000144579 CTD small phosphatase 1 CTDSP1 """CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1"", ""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1""" NLIIF, SCP1 Yes No Comparative Toxicogenomics Database:58190, Ensembl:ENSG00000144579, GeneCard:CTDSP1, HGNC:HGNC:21614, HumanCyc Gene:HS07180, ModBase:Q9GZU7, NCBI Gene:58190, OMIM:605323, RefSeq DNA:NT_005403, RefSeq Protein:NP_001193807, RefSeq Protein:NP_001193808, RefSeq Protein:NP_067021, RefSeq Protein:NP_872580, RefSeq RNA:NM_001206878, RefSeq RNA:NM_001206879, RefSeq RNA:NM_021198, RefSeq RNA:NM_182642, UniProtKB:Q9GZU7 No chr2 219263061 219270664 218398338 218405941 +PA128394568 10106 HGNC:17077 ENSG00000175215 CTD small phosphatase 2 CTDSP2 """CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2"", ""NLI-interacting factor 2"", ""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""small CTD phosphatase 2""" OS4, PSR2, SCP2 Yes No Comparative Toxicogenomics Database:10106, Ensembl:ENSG00000175215, GeneCard:CTDSP2, HGNC:HGNC:17077, HumanCyc Gene:HS10897, ModBase:O14595, NCBI Gene:10106, OMIM:608711, RefSeq DNA:NT_029419, RefSeq Protein:NP_005721, RefSeq RNA:NM_005730, UCSC Genome Browser:NM_005730, UniProtKB:O14595 No chr12 58213710 58240747 57819927 57846964 +PA128394571 10217 HGNC:16890 ENSG00000144677 CTD small phosphatase like CTDSPL """CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"", ""small CTD phosphatase 3""" C3orf8, HYA22, PSR1, RBSP3, SCP3 Yes No Comparative Toxicogenomics Database:10217, Ensembl:ENSG00000144677, GeneCard:CTDSPL, HGNC:HGNC:16890, HumanCyc Gene:HS07193, ModBase:O15194, NCBI Gene:10217, OMIM:608592, RefSeq DNA:NT_022517, RefSeq Protein:NP_001008393, RefSeq Protein:NP_005799, RefSeq RNA:NM_001008392, RefSeq RNA:NM_005808, UCSC Genome Browser:NM_005808, UniProtKB:O15194 No chr3 37903669 38025960 37862152 37984469 +PA142672063 51496 HGNC:26936 ENSG00000137770 CTD small phosphatase like 2 CTDSPL2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 FLJ10523, HSPC129 Yes No Ensembl:ENSG00000137770, GeneCard:CTDSPL2, HGNC:HGNC:26936, HumanCyc Gene:HS13693, ModBase:Q05D32, NCBI Gene:51496, RefSeq DNA:NT_010194, RefSeq Protein:NP_057480, RefSeq RNA:NM_016396, UniProtKB:Q05D32 No chr15 44719579 44819455 44427329 44527774 +PA27002 1489 HGNC:2499 ENSG00000150281 cardiotrophin 1 CTF1 CT-1, CT1 Yes No Comparative Toxicogenomics Database:1489, Ensembl:ENSG00000150281, GenAtlas:CTF1, GeneCard:CTF1, HGNC:HGNC:2499, HumanCyc Gene:HS07663, ModBase:Q16619, NCBI Gene:1489, OMIM:600435, RefSeq DNA:NG_009171, RefSeq DNA:NT_010393, RefSeq Protein:NP_001136016, RefSeq Protein:NP_001321, RefSeq RNA:NM_001142544, RefSeq RNA:NM_001330, UCSC Genome Browser:NM_001330, UniProtKB:Q16619, UniProtKB:Q5U5Y7 No chr16 30907928 30914881 30895824 30903560 +PA27004 1491 HGNC:2501 ENSG00000116761 cystathionine gamma-lyase CTH cystathionase (cystathionine gamma-lyase) CSE Yes Yes Comparative Toxicogenomics Database:1491, Ensembl:ENSG00000116761, GenAtlas:CTH, GeneCard:CTH, HGNC:HGNC:2501, HumanCyc Gene:HS04050, ModBase:P32929, NCBI Gene:1491, OMIM:219500, OMIM:607657, RefSeq DNA:NG_008041, RefSeq DNA:NT_032977, RefSeq Protein:NP_001177392, RefSeq Protein:NP_001893, RefSeq Protein:NP_714964, RefSeq RNA:NM_001190463, RefSeq RNA:NM_001902, RefSeq RNA:NM_153742, UCSC Genome Browser:NM_001902, UniProtKB:P32929 No chr1 70876901 70905534 70411218 70441949 +PA38701 115908 HGNC:18831 ENSG00000164932 collagen triple helix repeat containing 1 CTHRC1 Yes No Comparative Toxicogenomics Database:115908, Ensembl:ENSG00000164932, GenAtlas:CTHRC1, GeneCard:CTHRC1, HGNC:HGNC:18831, HumanCyc Gene:HS15257, ModBase:Q96CG8, NCBI Gene:115908, OMIM:610635, RefSeq DNA:NT_008046, RefSeq Protein:NP_612464, RefSeq RNA:NM_138455, UCSC Genome Browser:NM_138455, UniProtKB:Q96CG8 No chr8 104383743 104395233 103371515 103383005 +PA134974369 9811 HGNC:23925 ENSG00000134030 cap binding complex dependent translation initiation factor CTIF CBP80/20-dependent translation initiation factor KIAA0427 Yes No Ensembl:ENSG00000134030, GeneCard:KIAA0427, HGNC:HGNC:23925, HumanCyc Gene:HS05806, ModBase:O43310, NCBI Gene:9811, OMIM:613178, RefSeq DNA:NT_010966, RefSeq Protein:NP_001135869, RefSeq Protein:NP_055587, RefSeq RNA:NM_001142397, RefSeq RNA:NM_014772, UniProtKB:O43310 No chr18 46065427 46389588 48539056 48863217 +PA27006 1493 HGNC:2505 ENSG00000163599 cytotoxic T-lymphocyte associated protein 4 CTLA4 celiac disease, cytotoxic T-lymphocyte-associated protein 4, gluten-sensitive enteropathy CD, CD152, CD28, CELIAC3, CTLA-4, GSE, ICOS, IDDM12 Yes Yes Comparative Toxicogenomics Database:1493, Ensembl:ENSG00000163599, GenAtlas:CTLA4, GeneCard:CTLA4, HGNC:HGNC:2505, HumanCyc Gene:HS08888, ModBase:P16410, NCBI Gene:1493, OMIM:123890, OMIM:140300, OMIM:275000, OMIM:601388, OMIM:609755, RefSeq DNA:NG_011502, RefSeq DNA:NT_005403, RefSeq Protein:NP_001032720, RefSeq Protein:NP_005205, RefSeq RNA:NM_001037631, RefSeq RNA:NM_005214, UCSC Genome Browser:NM_005214, UniProtKB:O95653, UniProtKB:P16410 No chr2 204732511 204738683 203867788 203873960 +PA27008 1495 HGNC:2509 ENSG00000044115 catenin alpha 1 CTNNA1 """alpha-E-catenin"", ""catenin (cadherin-associated protein), alpha 1, 102kDa""" CAP102 Yes No Comparative Toxicogenomics Database:1495, Ensembl:ENSG00000044115, GenAtlas:CTNNA1, GeneCard:CTNNA1, HGNC:HGNC:2509, HumanCyc Gene:HS00575, ModBase:P35221, NCBI Gene:1495, OMIM:116805, RefSeq DNA:NT_034772, RefSeq Protein:NP_001894, RefSeq RNA:NM_001903, UCSC Genome Browser:NM_001903, UniProtKB:P35221 No chr5 138089075 138270723 138753386 138935034 +PA27012 1498 HGNC:2513 ENSG00000249026 catenin (cadherin-associated protein), alpha 1 pseudogene 1 CTNNA1P1 Yes No Ensembl:ENSG00000249026, GenAtlas:CTNNAP1, GeneCard:CTNNA1P1, HGNC:HGNC:2513, NCBI Gene:1498, RefSeq DNA:NG_001110, RefSeq DNA:NT_034772 No chr5 114724721 114728138 115389024 115392441 +PA27009 1496 HGNC:2510 ENSG00000066032 catenin alpha 2 CTNNA2 """alpha-N-catenin"", ""cadherin-associated protein, related"", ""cancer/testis antigen 114"", ""catenin (cadherin-associated protein), alpha 2""" CAP-R, CT114 Yes Yes Comparative Toxicogenomics Database:1496, Ensembl:ENSG00000066032, GenAtlas:CTNNA2, GeneCard:CTNNA2, HGNC:HGNC:2510, ModBase:Q7Z3Y0, NCBI Gene:1496, OMIM:114025, RefSeq DNA:NT_022184, RefSeq Protein:NP_001158355, RefSeq Protein:NP_004380, RefSeq RNA:NM_001164883, RefSeq RNA:NM_004389, UCSC Genome Browser:NM_004389, UniProtKB:Q49AD3 No chr2 79740060 80875993 79512934 80648868 +PA27010 29119 HGNC:2511 ENSG00000183230 catenin alpha 3 CTNNA3 """alpha-T-catenin"", ""catenin (cadherin-associated protein), alpha 3""" MGC26194, VR22 Yes Yes Ensembl:ENSG00000183230, GenAtlas:CTNNA3, GeneCard:CTNNA3, HGNC:HGNC:2511, ModBase:Q9UI47, NCBI Gene:29119, OMIM:607667, RefSeq DNA:NT_030059, RefSeq Protein:NP_001120856, RefSeq Protein:NP_037398, RefSeq RNA:NM_001127384, RefSeq RNA:NM_013266, UniProtKB:A8K141, UniProtKB:Q9UI47 No chr10 67672276 69455949 65912518 67696217 +PA27011 8727 HGNC:2512 ENSG00000119326 catenin alpha like 1 CTNNAL1 """alpha-catulin"", ""alpha2-catulin"", ""catenin (cadherin-associated protein), alpha-like 1""" CLLP, alpha-CATU Yes No Comparative Toxicogenomics Database:8727, Ensembl:ENSG00000119326, GenAtlas:CTNNAL1, GeneCard:CTNNAL1, HGNC:HGNC:2512, HumanCyc Gene:HS04284, ModBase:Q9UBT7, NCBI Gene:8727, OMIM:604785, RefSeq DNA:NT_008470, RefSeq Protein:NP_003789, RefSeq RNA:NM_003798, UCSC Genome Browser:NM_003798, UniProtKB:Q9UBT7 No chr9 111704849 111775829 108942569 109013594 +PA27013 1499 HGNC:2514 ENSG00000168036 catenin beta 1 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa CTNNB, armadillo, beta-catenin Yes Yes Comparative Toxicogenomics Database:1499, Ensembl:ENSG00000168036, GenAtlas:CTNNB1, GeneCard:CTNNB1, HGNC:HGNC:2514, HumanCyc Gene:HS09683, ModBase:P35222, NCBI Gene:1499, OMIM:114550, OMIM:116806, OMIM:132600, OMIM:155255, OMIM:167000, RefSeq DNA:NG_013302, RefSeq DNA:NT_022517, RefSeq Protein:NP_001091679, RefSeq Protein:NP_001091680, RefSeq Protein:NP_001895, RefSeq RNA:NM_001098209, RefSeq RNA:NM_001098210, RefSeq RNA:NM_001904, UCSC Genome Browser:NM_001904, UniProtKB:P26232, UniProtKB:P35222 No chr3 41236401 41281939 41199451 41240448 +PA27014 56998 HGNC:16913 ENSG00000178585 catenin beta interacting protein 1 CTNNBIP1 """beta-catenin-interacting protein ICAT"", ""catenin, beta interacting protein 1"", ""inhibitor of beta-catenin and Tcf-4""" ICAT, MGC15093 Yes No Comparative Toxicogenomics Database:56998, Ensembl:ENSG00000178585, GenAtlas:CTNNBIP1, GeneCard:CTNNBIP1, HGNC:HGNC:16913, ModBase:Q9NSA3, NCBI Gene:56998, OMIM:607758, RefSeq DNA:NT_021937, RefSeq Protein:NP_001012329, RefSeq Protein:NP_064633, RefSeq RNA:NM_001012329, RefSeq RNA:NM_020248, UCSC Genome Browser:NM_020248, UniProtKB:Q5T4V2, UniProtKB:Q9NSA3 No chr1 9908334 9970316 9848276 9910322 +PA27015 56259 HGNC:15879 ENSG00000132792 catenin beta like 1 CTNNBL1 """catenin, beta like 1"", ""nuclear associated protein""" C20orf33, FLJ21108, NAP, NYD-SP19, P14, P14L Yes No Ensembl:ENSG00000132792, GenAtlas:CTNNBL1, GeneCard:CTNNBL1, HGNC:HGNC:15879, HumanCyc Gene:HS13444, ModBase:Q8NCL2, NCBI Gene:56259, OMIM:611537, RefSeq DNA:NT_011362, RefSeq Protein:NP_110517, RefSeq RNA:NM_030877, UCSC Genome Browser:NM_030877, UniProtKB:Q8WYA6 No chr20 36322357 36500531 37693955 37872129 +PA27016 1500 HGNC:2515 ENSG00000198561 catenin delta 1 CTNND1 catenin (cadherin-associated protein), delta 1 CTNND, KIAA0384, p120, p120cas, p120ctn Yes No Comparative Toxicogenomics Database:1500, Ensembl:ENSG00000198561, GenAtlas:CTNND1, GeneCard:CTNND1, HGNC:HGNC:2515, ModBase:Q6RBX8, NCBI Gene:1500, OMIM:601045, RefSeq DNA:NT_167190, RefSeq Protein:NP_001078927, RefSeq Protein:NP_001078928, RefSeq Protein:NP_001078929, RefSeq Protein:NP_001078930, RefSeq Protein:NP_001078931, RefSeq Protein:NP_001078932, RefSeq Protein:NP_001078933, RefSeq Protein:NP_001078934, RefSeq Protein:NP_001078935, RefSeq Protein:NP_001078936, RefSeq Protein:NP_001078937, RefSeq Protein:NP_001078938, RefSeq Protein:NP_001193812, RefSeq Protein:NP_001193813, RefSeq Protein:NP_001193814, RefSeq Protein:NP_001193815, RefSeq Protein:NP_001193816, RefSeq Protein:NP_001193817, RefSeq Protein:NP_001193818, RefSeq Protein:NP_001193819, RefSeq Protein:NP_001193820, RefSeq Protein:NP_001322, RefSeq RNA:NM_001085458, RefSeq RNA:NM_001085459, RefSeq RNA:NM_001085460, RefSeq RNA:NM_001085461, RefSeq RNA:NM_001085462, RefSeq RNA:NM_001085463, RefSeq RNA:NM_001085464, RefSeq RNA:NM_001085465, RefSeq RNA:NM_001085466, RefSeq RNA:NM_001085467, RefSeq RNA:NM_001085468, RefSeq RNA:NM_001085469, RefSeq RNA:NM_001206883, RefSeq RNA:NM_001206884, RefSeq RNA:NM_001206885, RefSeq RNA:NM_001206886, RefSeq RNA:NM_001206887, RefSeq RNA:NM_001206888, RefSeq RNA:NM_001206889, RefSeq RNA:NM_001206890, RefSeq RNA:NM_001206891, RefSeq RNA:NM_001331, UCSC Genome Browser:NM_001331, UniProtKB:O60716 No chr11 57520756 57586652 57761762 57819180 +PA27017 1501 HGNC:2516 ENSG00000169862 catenin delta 2 CTNND2 """catenin (cadherin-associated protein), delta 2"", ""neural plakophilin-related arm-repeat protein"", ""neurojungin""" GT24, NPRAP Yes No Comparative Toxicogenomics Database:1501, Ensembl:ENSG00000169862, GenAtlas:CTNND2, GeneCard:CTNND2, HGNC:HGNC:2516, HumanCyc Gene:HS10021, ModBase:Q9UQB3, NCBI Gene:1501, OMIM:123450, OMIM:604275, RefSeq DNA:NG_023544, RefSeq DNA:NT_006576, RefSeq Protein:NP_001323, RefSeq RNA:NM_001332, UCSC Genome Browser:NM_001332, UniProtKB:Q9UQB3 No chr5 10971952 11904155 10971840 11904067 +PA27019 1497 HGNC:2518 ENSG00000040531 cystinosin, lysosomal cystine transporter CTNS CTNS-LSB, PQLC4, SLC66A4 Yes No Comparative Toxicogenomics Database:1497, Ensembl:ENSG00000040531, GenAtlas:CTNS, GeneCard:CTNS, HGNC:HGNC:2518, HumanCyc Gene:HS00548, NCBI Gene:1497, OMIM:219750, OMIM:219800, OMIM:219900, OMIM:606272, RefSeq DNA:NG_012489, RefSeq DNA:NT_010718, RefSeq Protein:NP_001026851, RefSeq Protein:NP_004928, RefSeq RNA:NM_001031681, RefSeq RNA:NM_004937, UCSC Genome Browser:NM_004937, UniProtKB:O60931 No chr17 3539762 3566397 3636391 3663103 +PA27020 1503 HGNC:2519 ENSG00000171793 CTP synthase 1 CTPS1 CTPS, GATD5, GATD5A Yes Yes Comparative Toxicogenomics Database:1503, Ensembl:ENSG00000171793, GenAtlas:CTPS, GeneCard:CTPS, HGNC:HGNC:2519, HumanCyc Gene:HS10382, ModBase:P17812, NCBI Gene:1503, OMIM:123860, RefSeq DNA:NT_032977, RefSeq Protein:NP_001896, RefSeq RNA:NM_001905, UCSC Genome Browser:NM_001905, UniProtKB:P17812 No chr1 41445007 41478237 40979299 41012565 +PA27021 56474 HGNC:2520 ENSG00000047230 CTP synthase 2 CTPS2 GATD5B Yes No Comparative Toxicogenomics Database:56474, Ensembl:ENSG00000047230, GenAtlas:CTPS2, GeneCard:CTPS2, HGNC:HGNC:2520, HumanCyc Gene:HS00585, ModBase:Q9NRF8, NCBI Gene:56474, OMIM:300380, RefSeq DNA:NG_013229, RefSeq DNA:NT_167197, RefSeq Protein:NP_001137474, RefSeq Protein:NP_062831, RefSeq Protein:NP_787055, RefSeq RNA:NM_001144002, RefSeq RNA:NM_019857, RefSeq RNA:NM_175859, UCSC Genome Browser:NM_019857, UniProtKB:Q9NRF8 No chrX 16606122 16731059 16587999 16712979 +PA134896774 9646 HGNC:16850 ENSG00000198730 CTR9 homolog, Paf1/RNA polymerase II complex component CTR9 """CTR9, Paf1/RNA polymerase II complex component"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)""" KIAA0155, SH2BP1, TSBP, p150TSP Yes No Comparative Toxicogenomics Database:9646, Ensembl:ENSG00000198730, GeneCard:CTR9, HGNC:HGNC:16850, ModBase:Q6PD62, NCBI Gene:9646, OMIM:609366, RefSeq DNA:NT_009237, RefSeq Protein:NP_055448, RefSeq RNA:NM_014633, UniProtKB:Q6PD62 No chr11 10772749 10801295 10750987 10779755 +PA27022 1504 HGNC:2521 ENSG00000168925 chymotrypsinogen B1 CTRB1 CTRB Yes Yes Comparative Toxicogenomics Database:1504, Ensembl:ENSG00000168925, GenAtlas:CTRB1, GeneCard:CTRB1, HGNC:HGNC:2521, HumanCyc Gene:HS09851, ModBase:P17538, NCBI Gene:1504, OMIM:118890, RefSeq DNA:NT_010498, RefSeq Protein:NP_001897, RefSeq RNA:NM_001906, UCSC Genome Browser:NM_001906 No chr16 75252884 75258822 75218986 75224924 +PA27023 440387 HGNC:2522 ENSG00000168928 chymotrypsinogen B2 CTRB2 Yes Yes Ensembl:ENSG00000168928, GenAtlas:CTRB2, GeneCard:CTRB2, HGNC:HGNC:2522, ModBase:Q6GPI1, NCBI Gene:440387, RefSeq DNA:NT_010498, RefSeq Protein:NP_001020371, RefSeq RNA:NM_001025200, UniProtKB:Q6GPI1 No chr16 75237994 75241072 75204096 75207174 +PA27024 11330 HGNC:2523 ENSG00000162438 chymotrypsin C CTRC caldecrin, chymotrypsin C (caldecrin), chymotrypsinogen C, elastase 4 CLCR, ELA4 Yes No Comparative Toxicogenomics Database:11330, Ensembl:ENSG00000162438, GenAtlas:CTRC, GeneCard:CTRC, HGNC:HGNC:2523, HumanCyc Gene:HS08679, ModBase:Q99895, NCBI Gene:11330, OMIM:167800, OMIM:601405, RefSeq DNA:NG_009253, RefSeq DNA:NT_004610, RefSeq Protein:NP_009203, RefSeq RNA:NM_007272, UCSC Genome Browser:NM_007272, UniProtKB:Q99895 No chr1 15764938 15773153 15438442 15449247 +PA27025 1506 HGNC:2524 ENSG00000141086 chymotrypsin like CTRL Chymotrypsin-like protease, chymotrypsin-like CTRL1 Yes No Comparative Toxicogenomics Database:1506, Ensembl:ENSG00000141086, GenAtlas:CTRL, GeneCard:CTRL, HGNC:HGNC:2524, ModBase:P40313, NCBI Gene:1506, OMIM:118888, RefSeq DNA:NT_010498, RefSeq Protein:NP_001898, RefSeq RNA:NM_001907, UCSC Genome Browser:NM_001907, UniProtKB:P40313 No chr16 67963473 67965778 67929570 67931875 +PA33572 5476 HGNC:9251 ENSG00000064601 cathepsin A CTSA carboxypeptidase C, carboxypeptidase Y-like kininase, carboxypeptidase-L, deamidase, lysosomal carboxypeptidase A, lysosomal protective protein, urinary kininase GSL, PPGB Yes No Comparative Toxicogenomics Database:5476, Ensembl:ENSG00000064601, GenAtlas:PPGB, GeneCard:CTSA, GeneCard:PPGB, HGNC:HGNC:9251, HumanCyc Gene:HS00808, NCBI Gene:5476, OMIM:256540, OMIM:613111, RefSeq DNA:NG_008291, RefSeq DNA:NT_011362, RefSeq Protein:NP_000299, RefSeq Protein:NP_001121167, RefSeq Protein:NP_001161066, RefSeq RNA:NM_000308, RefSeq RNA:NM_001127695, RefSeq RNA:NM_001167594, UCSC Genome Browser:NM_000308, UniProtKB:B4E324, UniProtKB:P10619 No chr20 44519591 44527459 45890144 45898820 +PA27027 1508 HGNC:2527 ENSG00000164733 cathepsin B CTSB Yes No Comparative Toxicogenomics Database:1508, Ensembl:ENSG00000164733, GenAtlas:CTSB, GeneCard:CTSB, HGNC:HGNC:2527, HumanCyc Gene:HS09125, ModBase:P07858, NCBI Gene:1508, OMIM:116810, RefSeq DNA:NG_009217, RefSeq DNA:NT_077531, RefSeq Protein:NP_001899, RefSeq Protein:NP_680090, RefSeq Protein:NP_680091, RefSeq Protein:NP_680092, RefSeq Protein:NP_680093, RefSeq RNA:NM_001908, RefSeq RNA:NM_147780, RefSeq RNA:NM_147781, RefSeq RNA:NM_147782, RefSeq RNA:NM_147783, UCSC Genome Browser:NM_001908, UniProtKB:P07858 No chr8 11700033 11725646 11842524 11868150 +PA27028 1075 HGNC:2528 ENSG00000109861 cathepsin C CTSC dipeptidyl peptidase 1 DPP1, JPD, PALS, PLS Yes No Comparative Toxicogenomics Database:1075, Ensembl:ENSG00000109861, GenAtlas:CTSC, GeneCard:CTSC, HGNC:HGNC:2528, HumanCyc Gene:HS03265, ModBase:Q8WYA8, NCBI Gene:1075, OMIM:170650, OMIM:245000, OMIM:245010, OMIM:602365, RefSeq DNA:NG_007952, RefSeq DNA:NT_167190, RefSeq Protein:NP_001107645, RefSeq Protein:NP_001805, RefSeq Protein:NP_680475, RefSeq RNA:NM_001114173, RefSeq RNA:NM_001814, RefSeq RNA:NM_148170, UCSC Genome Browser:NM_001814, UniProtKB:P53634, UniProtKB:Q2HIY8, UniProtKB:Q7Z5U7 No chr11 88026760 88070941 88293592 88337787 +PA27029 1509 HGNC:2529 ENSG00000117984 cathepsin D CTSD ceroid-lipofuscinosis, neuronal 10 CLN10, CPSD Yes No Comparative Toxicogenomics Database:1509, Ensembl:ENSG00000117984, GenAtlas:CTSD, GeneCard:CTSD, HGNC:HGNC:2529, HumanCyc Gene:HS04183, ModBase:P07339, NCBI Gene:1509, OMIM:116840, OMIM:610127, RefSeq DNA:NG_008655, RefSeq DNA:NT_009237, RefSeq Protein:NP_001900, RefSeq RNA:NM_001909, UCSC Genome Browser:NM_001909, UniProtKB:P07339 No chr11 1773982 1785222 1752752 1763992 +PA27030 1510 HGNC:2530 ENSG00000196188 cathepsin E CTSE Yes No Comparative Toxicogenomics Database:1510, Ensembl:ENSG00000196188, GenAtlas:CTSE, GeneCard:CTSE, HGNC:HGNC:2530, HumanCyc Gene:HS00006, ModBase:P14091, NCBI Gene:1510, OMIM:116890, RefSeq DNA:NT_086602, RefSeq Protein:NP_001901, RefSeq Protein:NP_683865, RefSeq RNA:NM_001910, RefSeq RNA:NM_148964, UCSC Genome Browser:NM_001910, UniProtKB:P14091 No chr1 206317459 206332104 206009264 206023909 +PA27031 8722 HGNC:2531 ENSG00000174080 cathepsin F CTSF CATSF, CLN13 Yes No Comparative Toxicogenomics Database:8722, Ensembl:ENSG00000174080, GenAtlas:CTSF, GeneCard:CTSF, HGNC:HGNC:2531, HumanCyc Gene:HS10762, ModBase:Q9UBX1, NCBI Gene:8722, OMIM:603539, RefSeq DNA:NT_167190, RefSeq Protein:NP_003784, RefSeq RNA:NM_003793, UCSC Genome Browser:NM_003793, UniProtKB:Q9UBX1 No chr11 66330935 66336047 66563463 66568576 +PA27032 1511 HGNC:2532 ENSG00000100448 cathepsin G CTSG CG Yes No Comparative Toxicogenomics Database:1511, Ensembl:ENSG00000100448, GenAtlas:CTSG, GeneCard:CTSG, HGNC:HGNC:2532, HumanCyc Gene:HS02088, ModBase:P08311, NCBI Gene:1511, OMIM:116830, RefSeq DNA:NT_026437, RefSeq Protein:NP_001902, RefSeq RNA:NM_001911, UCSC Genome Browser:NM_001911, UniProtKB:P08311 No chr14 25042724 25045466 24573518 24576260 +PA27033 1512 HGNC:2535 ENSG00000103811 cathepsin H CTSH ACC-4, ACC-5, ACC4, ACC5, CPSB Yes No Comparative Toxicogenomics Database:1512, Ensembl:ENSG00000103811, GenAtlas:CTSH, GeneCard:CTSH, HGNC:HGNC:2535, HumanCyc Gene:HS02534, ModBase:P09668, NCBI Gene:1512, OMIM:116820, RefSeq DNA:NG_009614, RefSeq DNA:NT_010194, RefSeq Protein:NP_004381, RefSeq Protein:NP_683880, RefSeq RNA:NM_004390, RefSeq RNA:NM_148979, UCSC Genome Browser:NM_004390, UniProtKB:P09668, UniProtKB:Q96NY6 No chr15 79214092 79237436 78921750 78945098 +PA27034 1513 HGNC:2536 ENSG00000143387 cathepsin K CTSK CTSO, CTSO2, PKND, PYCD Yes No Comparative Toxicogenomics Database:1513, Ensembl:ENSG00000143387, GenAtlas:CTSK, GeneCard:CTSK, HGNC:HGNC:2536, HumanCyc Gene:HS07044, ModBase:P43235, NCBI Gene:1513, OMIM:265800, OMIM:601105, RefSeq DNA:NG_011848, RefSeq DNA:NT_004487, RefSeq Protein:NP_000387, RefSeq RNA:NM_000396, UCSC Genome Browser:NM_000396, UniProtKB:P43235, UniProtKB:Q6FHS6 No chr1 150768684 150780917 150796208 150808441 +PA162382890 1514 HGNC:2537 ENSG00000135047 cathepsin L CTSL cathepsin L1 CTSL1, FLJ31037 Yes No Ensembl:ENSG00000135047, GeneCard:CTSL1, HGNC:HGNC:2537, HumanCyc Gene:HS05942, ModBase:P07711, NCBI Gene:1514, OMIM:116880, RefSeq DNA:NT_008470, RefSeq Protein:NP_001903, RefSeq Protein:NP_666023, RefSeq RNA:NM_001912, RefSeq RNA:NM_145918, UniProtKB:P07711 No chr9 90340974 90346384 87725437 87731469 +PA162382911 392360 HGNC:33132 ENSG00000188029 cathepsin L family member 3, pseudogene CTSL3P HCTSL-s Yes No Ensembl:ENSG00000188029, GeneCard:CTSL3, HGNC:HGNC:33132, ModBase:Q5NE16, NCBI Gene:392360, RefSeq DNA:NT_008470, RefSeq Protein:NP_001018858, RefSeq RNA:NM_001023564, RefSeq RNA:NR_027917 No chr9 90387830 90401799 87772915 87786884 +PA27040 1519 HGNC:2542 ENSG00000151792, ENSG00000256043 cathepsin O CTSO CTSO1 Yes No Comparative Toxicogenomics Database:1519, Ensembl:ENSG00000151792, Ensembl:ENSG00000256043, GenAtlas:CTSO, GeneCard:CTSO, HGNC:HGNC:2542, HumanCyc Gene:HS07772, ModBase:P43234, NCBI Gene:1519, OMIM:600550, RefSeq DNA:NT_016354, RefSeq Protein:NP_001325, RefSeq RNA:NM_001334, UCSC Genome Browser:NM_001334, UniProtKB:P43234 No chr4 156845270 156875048 155924118 155953896 +PA27041 1520 HGNC:2545 ENSG00000163131 cathepsin S CTSS Yes No Comparative Toxicogenomics Database:1520, Ensembl:ENSG00000163131, GenAtlas:CTSS, GeneCard:CTSS, HGNC:HGNC:2545, HumanCyc Gene:HS08791, ModBase:P25774, NCBI Gene:1520, OMIM:116845, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186668, RefSeq Protein:NP_004070, RefSeq RNA:NM_001199739, RefSeq RNA:NM_004079, UCSC Genome Browser:NM_004079, UniProtKB:P25774 No chr1 150702672 150738433 150730196 150765957 +PA27036 1515 HGNC:2538 ENSG00000136943 cathepsin V CTSV cathepsin L2 CTSL2, CTSU, CTSV Yes No Ensembl:ENSG00000136943, GenAtlas:CTSL2, GeneCard:CTSL2, HGNC:HGNC:2538, HumanCyc Gene:HS06256, ModBase:O60911, NCBI Gene:1515, OMIM:603308, RefSeq DNA:NT_008470, RefSeq Protein:NP_001188504, RefSeq Protein:NP_001324, RefSeq RNA:NM_001201575, RefSeq RNA:NM_001333, UCSC Genome Browser:NM_001333, UniProtKB:O60911 No chr9 99791959 99801925 97029677 97039643 +PA27042 1521 HGNC:2546 ENSG00000172543 cathepsin W CTSW Yes No Comparative Toxicogenomics Database:1521, Ensembl:ENSG00000172543, GenAtlas:CTSW, GeneCard:CTSW, HGNC:HGNC:2546, HumanCyc Gene:HS10536, ModBase:P56202, NCBI Gene:1521, OMIM:602364, RefSeq DNA:NT_167190, RefSeq Protein:NP_001326, RefSeq RNA:NM_001335, UCSC Genome Browser:NM_001335, UniProtKB:P56202 No chr11 65647284 65651212 65879813 65883741 +PA27043 1522 HGNC:2547 ENSG00000101160 cathepsin Z CTSZ carboxypeptidase LB, cathepsin B2, cathepsin IV, cathepsin X, cathepsin Y, cathepsin Z1, cysteine-type carboxypeptidase, lysosomal carboxypeptidase B CTSX Yes No Comparative Toxicogenomics Database:1522, Ensembl:ENSG00000101160, GenAtlas:CTSZ, GeneCard:CTSZ, HGNC:HGNC:2547, HumanCyc Gene:HS02205, ModBase:Q9UBR2, NCBI Gene:1522, OMIM:603169, OMIM:607948, RefSeq DNA:NG_023300, RefSeq DNA:NT_011362, RefSeq Protein:NP_001327, RefSeq RNA:NM_001336, UCSC Genome Browser:NM_001336, UniProtKB:Q9UBR2 No chr20 57570242 57582309 58995187 59007254 +PA27775 2017 HGNC:3338 ENSG00000085733 cortactin CTTN EMS1 Yes No Comparative Toxicogenomics Database:2017, Ensembl:ENSG00000085733, GenAtlas:CTTN, GeneCard:CTTN, HGNC:HGNC:3338, HumanCyc Gene:HS01505, ModBase:Q14247, NCBI Gene:2017, OMIM:164765, RefSeq DNA:NT_167190, RefSeq Protein:NP_001171669, RefSeq Protein:NP_005222, RefSeq Protein:NP_612632, RefSeq RNA:NM_001184740, RefSeq RNA:NM_005231, RefSeq RNA:NM_138565, UCSC Genome Browser:NM_005231, UniProtKB:Q14247, UniProtKB:Q53HG7, UniProtKB:Q8N707, UniProtKB:Q96H99 No chr11 70244612 70282690 70398506 70436584 +PA26774 83992 HGNC:15679 ENSG00000077063 cortactin binding protein 2 CTTNBP2 C7orf8, CORTBP2, KIAA1758, Orf4 Yes No Comparative Toxicogenomics Database:83992, Ensembl:ENSG00000077063, GenAtlas:CTTNBP2, GeneCard:CTTNBP2, HGNC:HGNC:15679, HumanCyc Gene:HS12248, ModBase:Q8WZ74, NCBI Gene:83992, OMIM:609772, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_219499, RefSeq RNA:NM_033427, UCSC Genome Browser:NM_033427, UniProtKB:Q20BG9, UniProtKB:Q8WZ74 No chr7 117350702 117513561 117710648 117873507 +PA142672062 55917 HGNC:25330 ENSG00000143079 CTTNBP2 N-terminal like CTTNBP2NL DKFZp547A023 Yes No Comparative Toxicogenomics Database:55917, Ensembl:ENSG00000143079, GeneCard:CTTNBP2NL, HGNC:HGNC:25330, HumanCyc Gene:HS13947, ModBase:Q9P2B4, NCBI Gene:55917, RefSeq DNA:NT_032977, RefSeq Protein:NP_061174, RefSeq RNA:NM_018704, UniProtKB:Q9P2B4 No chr1 112938800 113003786 112391085 112461164 +PA165393368 90353 HGNC:29590 ENSG00000142544 cytosolic thiouridylase subunit 1 CTU1 cytosolic thiouridylase subunit 1 homolog (S. pombe) ATPBD3, MGC17332, NCS6 Yes No Ensembl:ENSG00000142544, GeneCard:CTU1, HGNC:HGNC:29590, HumanCyc Gene:HS06936, ModBase:Q7Z7A3, NCBI Gene:90353, OMIM:612694, RefSeq DNA:NT_011109, RefSeq Protein:NP_660275, RefSeq RNA:NM_145232, UniProtKB:Q7Z7A3 No chr19 51600863 51611647 51097606 51108390 +PA165449882 348180 HGNC:28005 ENSG00000174177 cytosolic thiouridylase subunit 2 CTU2 Cytoplasmic tRNA 2-thiolation protein 2, cytosolic thiouridylase subunit 2 homolog (S. pombe) C16orf84, NCS2 Yes No Ensembl:ENSG00000174177, GeneCard:CTU2, HGNC:HGNC:28005, ModBase:Q2VPK5, NCBI Gene:348180, RefSeq DNA:NT_010542, RefSeq DNA:NT_010542.15, RefSeq Protein:NP_001012777, RefSeq Protein:NP_001012780, RefSeq RNA:NM_001012759, RefSeq RNA:NM_001012759.1, RefSeq RNA:NM_001012762, RefSeq RNA:NM_001012762.1, UniProtKB:Q2VPK5 No chr16 88772891 88781794 88706463 88715386 +PA134944051 404217 HGNC:31108 ENSG00000178531 cortexin 1 CTXN1 FLJ25968 Yes No Ensembl:ENSG00000178531, GeneCard:CTXN1, HGNC:HGNC:31108, NCBI Gene:404217, OMIM:600135, RefSeq DNA:NT_077812, RefSeq Protein:NP_996664, RefSeq RNA:NM_206833, UniProtKB:P60606 No chr19 7989381 7991051 7924496 7926166 +PA134951739 399697 HGNC:31109 ENSG00000233932 cortexin 2 CTXN2 Yes No Ensembl:ENSG00000233932, GeneCard:CTXN2, HGNC:HGNC:31109, NCBI Gene:399697, RefSeq DNA:NT_010194, RefSeq Protein:NP_001139140, RefSeq RNA:NM_001145668, UniProtKB:P0C2S0 No chr15 48470546 48495951 48178564 48203754 +PA134959223 613212 HGNC:31110 ENSG00000205279 cortexin 3 CTXN3 Yes No Ensembl:ENSG00000205279, GeneCard:CTXN3, HGNC:HGNC:31110, NCBI Gene:613212, RefSeq DNA:NT_034772, RefSeq Protein:NP_001041717, RefSeq Protein:NP_001120857, RefSeq RNA:NM_001048252, RefSeq RNA:NM_001127385, UniProtKB:Q4LDR2 No chr5 126984713 126994322 127649021 127658630 +PA166180599 100996492 HGNC:50507 ENSG00000259417 cortexin domain containing 1 CTXND1 LINC01314 Yes No Ensembl:ENSG00000259417, HGNC:HGNC:50507, NCBI Gene:100996492 No 0 0 0 0 +PA166180600 100996521 HGNC:53440 ENSG00000283324 cortexin domain containing 2 CTXND2 Yes No Ensembl:ENSG00000283324, HGNC:HGNC:53440, NCBI Gene:100996521 No 0 0 0 0 +PA27044 8029 HGNC:2548 ENSG00000107611 cubilin CUBN cubilin (intrinsic factor-cobalamin receptor), intrinsic factor-cobalamin receptor IFCR, MGA1, gp280 Yes No Comparative Toxicogenomics Database:8029, Ensembl:ENSG00000107611, GenAtlas:CUBN, GeneCard:CUBN, HGNC:HGNC:2548, HumanCyc Gene:HS03010, ModBase:O60494, NCBI Gene:8029, OMIM:261100, OMIM:602997, RefSeq DNA:NG_008967, RefSeq DNA:NT_008705, RefSeq Protein:NP_001072, RefSeq RNA:NM_001081, UCSC Genome Browser:NM_001081, UniProtKB:O60494 No chr10 16865965 17171816 16823966 17130492 +PA134913154 404093 HGNC:31350 ENSG00000180891 CUE domain containing 1 CUEDC1 Yes No Comparative Toxicogenomics Database:404093, Ensembl:ENSG00000180891, GeneCard:CUEDC1, HGNC:HGNC:31350, ModBase:Q9NWM3, NCBI Gene:404093, RefSeq DNA:NT_010783, RefSeq Protein:NP_060419, RefSeq RNA:NM_017949, UniProtKB:Q9NWM3 No chr17 55938604 56032684 57861243 57955323 +PA134871975 79004 HGNC:28352 ENSG00000107874 CUE domain containing 2 CUEDC2 C10orf66, MGC2491 Yes No Comparative Toxicogenomics Database:79004, Ensembl:ENSG00000107874, GeneCard:CUEDC2, HGNC:HGNC:28352, HumanCyc Gene:HS12663, ModBase:Q9H467, NCBI Gene:79004, RefSeq DNA:NT_030059, RefSeq Protein:NP_076945, RefSeq RNA:NM_024040, UniProtKB:Q9H467 No chr10 104183002 104192423 102423245 102432666 +PA27047 8454 HGNC:2551 ENSG00000055130 cullin 1 CUL1 Yes No Comparative Toxicogenomics Database:8454, Ensembl:ENSG00000055130, GenAtlas:CUL1, GeneCard:CUL1, HGNC:HGNC:2551, HumanCyc Gene:HS00681, ModBase:Q13616, NCBI Gene:8454, OMIM:603134, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_003583, RefSeq RNA:NM_003592, UCSC Genome Browser:NM_003592, UniProtKB:B3KTW0, UniProtKB:Q13616 No chr7 148395631 148498202 148698178 148801110 +PA27048 8453 HGNC:2552 ENSG00000108094 cullin 2 CUL2 Yes No Ensembl:ENSG00000108094, GenAtlas:CUL2, GeneCard:CUL2, HGNC:HGNC:2552, HumanCyc Gene:HS03063, ModBase:Q13617, NCBI Gene:8453, OMIM:603135, RefSeq DNA:NT_008705, RefSeq Protein:NP_001185706, RefSeq Protein:NP_001185707, RefSeq Protein:NP_001185708, RefSeq Protein:NP_003582, RefSeq RNA:NM_001198777, RefSeq RNA:NM_001198778, RefSeq RNA:NM_001198779, RefSeq RNA:NM_003591, UCSC Genome Browser:NM_003591, UniProtKB:Q13617 No chr10 35297479 35379570 35008551 35126899 +PA27049 8452 HGNC:2553 ENSG00000036257 cullin 3 CUL3 Yes No Comparative Toxicogenomics Database:8452, Ensembl:ENSG00000036257, GenAtlas:CUL3, GeneCard:CUL3, HGNC:HGNC:2553, HumanCyc Gene:HS00514, ModBase:Q13618, NCBI Gene:8452, OMIM:603136, RefSeq DNA:NT_005403, RefSeq Protein:NP_003581, RefSeq RNA:NM_003590, UCSC Genome Browser:NM_003590, UniProtKB:Q13618 No chr2 225334867 225450114 224470150 224585397 +PA27050 8451 HGNC:2554 ENSG00000139842 cullin 4A CUL4A Yes No Comparative Toxicogenomics Database:8451, Ensembl:ENSG00000139842, GenAtlas:CUL4A, GeneCard:CUL4A, HGNC:HGNC:2554, HumanCyc Gene:HS06662, ModBase:Q13619, NCBI Gene:8451, OMIM:603137, RefSeq DNA:NT_027140, RefSeq Protein:NP_001008895, RefSeq Protein:NP_003580, RefSeq RNA:NM_001008895, RefSeq RNA:NM_003589, UCSC Genome Browser:NM_003589, UniProtKB:Q13619 No chr13 113862507 113919392 113208193 113265078 +PA27051 8450 HGNC:2555 ENSG00000158290 cullin 4B CUL4B Yes No Comparative Toxicogenomics Database:8450, Ensembl:ENSG00000158290, GenAtlas:CUL4B, GeneCard:CUL4B, HGNC:HGNC:2555, HumanCyc Gene:HS08278, ModBase:Q13620, NCBI Gene:8450, OMIM:300304, OMIM:300354, OMIM:300639, RefSeq DNA:NG_009388, RefSeq DNA:NT_011786, RefSeq Protein:NP_001073341, RefSeq Protein:NP_003579, RefSeq RNA:NM_001079872, RefSeq RNA:NM_003588, UCSC Genome Browser:NM_003588, UniProtKB:Q13620 No chrX 119658444 119709684 120524589 120575829 +PA27052 8065 HGNC:2556 ENSG00000166266 cullin 5 CUL5 VACM-1 Yes No Comparative Toxicogenomics Database:8065, Ensembl:ENSG00000166266, GenAtlas:CUL5, GeneCard:CUL5, HGNC:HGNC:2556, HumanCyc Gene:HS09366, ModBase:Q93034, NCBI Gene:8065, OMIM:601741, RefSeq DNA:NT_033899, RefSeq Protein:NP_003469, RefSeq RNA:NM_003478, UCSC Genome Browser:NM_003478, UniProtKB:Q93034 No chr11 107879408 107978495 108008682 108107766 +PA134897835 9820 HGNC:21024 ENSG00000044090 cullin 7 CUL7 KIAA0076, dJ20C7.5 Yes No Comparative Toxicogenomics Database:9820, Ensembl:ENSG00000044090, GeneCard:CUL7, HGNC:HGNC:21024, HumanCyc Gene:HS12100, ModBase:Q14999, NCBI Gene:9820, OMIM:273750, OMIM:609577, RefSeq DNA:NG_016205, RefSeq DNA:NT_007592, RefSeq Protein:NP_001161842, RefSeq Protein:NP_055595, RefSeq RNA:NM_001168370, RefSeq RNA:NM_014780, UniProtKB:Q14999 No chr6 43005355 43021683 43037617 43053950 +PA164718328 23113 HGNC:15982 ENSG00000112659 cullin 9 CUL9 p53-associated parkin-like cytoplasmic protein, parkin-like cytoplasmic p53 binding protein H7AP1, KIAA0708, PARC Yes No Ensembl:ENSG00000112659, GeneCard:CUL9, HGNC:HGNC:15982, HumanCyc Gene:HS03601, NCBI Gene:23113, OMIM:607489, RefSeq DNA:NT_007592, RefSeq Protein:NP_055904, RefSeq RNA:NM_015089, UniProtKB:Q8IWT3 No chr6 43149913 43192325 43182170 43224587 +PA134928220 51596 HGNC:21101 ENSG00000112514, ENSG00000226492 cutA divalent cation tolerance homolog CUTA cutA divalent cation tolerance homolog (E. coli) ACHAP, C6orf82 Yes No Comparative Toxicogenomics Database:51596, Ensembl:ENSG00000112514, Ensembl:ENSG00000226492, GenAtlas:CUTA, GeneCard:CUTA, HGNC:HGNC:21101, HumanCyc Gene:HS12777, ModBase:O60888, NCBI Gene:51596, RefSeq DNA:NT_007592, RefSeq DNA:NT_167249, RefSeq Protein:NP_001014433, RefSeq Protein:NP_001014837, RefSeq Protein:NP_001014838, RefSeq Protein:NP_001014840, RefSeq Protein:NP_057005, RefSeq RNA:NM_001014433, RefSeq RNA:NM_001014837, RefSeq RNA:NM_001014838, RefSeq RNA:NM_001014840, RefSeq RNA:NM_015921, UniProtKB:O60888 No chr6 33384319 33386111 33416542 33418288 +PA134901980 51076 HGNC:24271 ENSG00000119929 cutC copper transporter CUTC cutC copper transporter homolog (E. coli) CGI-32 Yes No Comparative Toxicogenomics Database:51076, Ensembl:ENSG00000119929, GeneCard:CUTC, HGNC:HGNC:24271, HumanCyc Gene:HS12967, ModBase:Q9NTM9, NCBI Gene:51076, OMIM:610101, RefSeq DNA:NT_030059, RefSeq Protein:NP_057044, RefSeq RNA:NM_015960, UniProtKB:Q5TCZ8, UniProtKB:Q9NTM9 No chr10 101491958 101515894 99732201 99756137 +PA162382924 1523 HGNC:2557 ENSG00000257923 cut like homeobox 1 CUX1 CUX1 gene Alternatively Spliced Product, cut-like homeobox 1, golgi integral membrane protein 6 CASP, CDP, CDP/Cut, CDP/Cux, CDP1, CUT, CUTL1, CUX, Clox, Cux/CDP, GOLIM6 Yes Yes Ensembl:ENSG00000257923, GeneCard:CUX1, HGNC:HGNC:2557, HumanCyc Gene:HS08558, ModBase:P39880, ModBase:Q13948, NCBI Gene:1523, OMIM:116896, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001189472, RefSeq Protein:NP_001189473, RefSeq Protein:NP_001189474, RefSeq Protein:NP_001189475, RefSeq Protein:NP_001904, RefSeq Protein:NP_852477, RefSeq Protein:NP_853530, RefSeq RNA:NM_001202543, RefSeq RNA:NM_001202544, RefSeq RNA:NM_001202545, RefSeq RNA:NM_001202546, RefSeq RNA:NM_001913, RefSeq RNA:NM_181500, RefSeq RNA:NM_181552, UniProtKB:P39880, UniProtKB:Q13948 No chr7 101459184 101927250 101815904 102283958 +PA162382977 23316 HGNC:19347 ENSG00000111249 cut like homeobox 2 CUX2 cut-like homeobox 2 CDP2, CUTL2, KIAA0293 Yes Yes Ensembl:ENSG00000111249, GeneCard:CUX2, HGNC:HGNC:19347, HumanCyc Gene:HS03388, ModBase:O14529, NCBI Gene:23316, OMIM:610648, RefSeq DNA:NG_023039, RefSeq DNA:NT_009775, RefSeq Protein:NP_056082, RefSeq RNA:NM_015267, UniProtKB:A7E2Y4 No chr12 111471828 111788358 111034024 111350556 +PA134903546 50624 HGNC:17937 ENSG00000138161 CUB and zona pellucida like domains 1 CUZD1 CUB and zona pellucida-like domains 1 ERG-1, UO-44 Yes No Comparative Toxicogenomics Database:50624, Ensembl:ENSG00000138161, GeneCard:CUZD1, HGNC:HGNC:17937, HumanCyc Gene:HS06466, ModBase:Q86UP6, NCBI Gene:50624, RefSeq DNA:NT_030059, RefSeq Protein:NP_071317, RefSeq RNA:NM_022034, RefSeq RNA:NR_037912, UniProtKB:Q86UP6 No chr10 124591671 124605691 122832155 122846175 +PA162383026 51503 HGNC:26939 ENSG00000150316 CWC15 spliceosome associated protein homolog CWC15 CWC15 spliceosome-associated protein, CWC15 spliceosome-associated protein homolog (S. cerevisiae) AD002, C11orf5, Cwf15, HSPC148 Yes No Ensembl:ENSG00000150316, GeneCard:CWC15, HGNC:HGNC:26939, HumanCyc Gene:HS14319, ModBase:Q9P013, NCBI Gene:51503, RefSeq DNA:NT_167190, RefSeq Protein:NP_057487, RefSeq RNA:NM_016403, UniProtKB:Q9P013 No chr11 94695787 94706776 94962622 94973612 +PA164718415 57703 HGNC:29322 ENSG00000163510 CWC22 spliceosome associated protein homolog CWC22 CWC22 spliceosome-associated protein, CWC22 spliceosome-associated protein homolog (S. cerevisiae), functional spliceosome-associated protein b EIF4GL, KIAA1604, NCM, fSAPb Yes No Ensembl:ENSG00000163510, GeneCard:CWC22, HGNC:HGNC:29322, NCBI Gene:57703, RefSeq DNA:NT_005403, RefSeq Protein:NP_065994, RefSeq RNA:NM_020943, UniProtKB:Q9HCG8 No chr2 180809603 180872024 179944876 180007359 +PA165431769 54883 HGNC:25989 ENSG00000273559 CWC25 spliceosome associated protein homolog CWC25 CWC25 spliceosome-associated protein homolog (S. cerevisiae) CCDC49, FLJ20291 Yes No Comparative Toxicogenomics Database:54883, Ensembl:ENSG00000273559, GeneCard:CWC25, HGNC:HGNC:25989, HumanCyc Gene:HS12670, ModBase:Q9NXE8, NCBI Gene:54883, RefSeq DNA:NT_010755, RefSeq DNA:NT_010783, RefSeq Protein:NP_060218, RefSeq RNA:NM_017748, UniProtKB:Q9NXE8 No chr17 36956687 36981603 38800434 38825350 +PA35594 10283 HGNC:10664 ENSG00000153015 CWC27 spliceosome associated cyclophilin CWC27 CWC27 spliceosome associated protein homolog, CWC27 spliceosome-associated protein homolog (S. cerevisiae) NY-CO-10, SDCCAG-10, SDCCAG10 Yes No Comparative Toxicogenomics Database:10283, Ensembl:ENSG00000153015, GenAtlas:SDCCAG10, GeneCard:CWC27, GeneCard:SDCCAG10, HGNC:HGNC:10664, HumanCyc Gene:HS07872, ModBase:Q6UX04, NCBI Gene:10283, RefSeq DNA:NT_006713, RefSeq Protein:NP_005860, RefSeq RNA:NM_005869, UCSC Genome Browser:NM_005869, UniProtKB:Q6UX04 No chr5 64064755 64314590 64768918 65018763 +PA134864340 55280 HGNC:25613 ENSG00000095485 CWF19 like cell cycle control factor 1 CWF19L1 """CWF19-like 1, cell cycle control (S. pombe)"", ""human Dbr1 associated ribonuclease 1""" FLJ10998, hDrn1 Yes No Comparative Toxicogenomics Database:55280, Ensembl:ENSG00000095485, GeneCard:CWF19L1, HGNC:HGNC:25613, HumanCyc Gene:HS12356, ModBase:Q69YN2, NCBI Gene:55280, RefSeq DNA:NT_030059, RefSeq Protein:NP_060764, RefSeq RNA:NM_018294, UniProtKB:Q69YN2 No chr10 101992055 102027437 100232296 100267681 +PA134914164 143884 HGNC:26508 ENSG00000152404 CWF19 like cell cycle control factor 2 CWF19L2 CWF19-like 2, cell cycle control (S. pombe) FLJ32343 Yes No Comparative Toxicogenomics Database:143884, Ensembl:ENSG00000152404, GeneCard:CWF19L2, HGNC:HGNC:26508, HumanCyc Gene:HS14429, NCBI Gene:143884, RefSeq DNA:NT_033899, RefSeq Protein:NP_689647, RefSeq RNA:NM_152434, UniProtKB:Q2TBE0 No chr11 107197071 107328572 107326345 107457846 +PA165663488 80157 HGNC:26133 ENSG00000109182 cell wall biogenesis 43 C-terminal homolog CWH43 cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) CWH43-C, FLJ21511, PGAP2IP Yes No Ensembl:ENSG00000109182, GeneCard:CWH43, HGNC:HGNC:26133, HumanCyc Gene:HS12690, NCBI Gene:80157, RefSeq DNA:NT_006238, RefSeq Protein:NP_079363, RefSeq RNA:NM_025087, UniProtKB:Q9H720 No chr4 48988264 49064096 48986247 49062079 +PA35577 6376 HGNC:10647 ENSG00000006210 C-X3-C motif chemokine ligand 1 CX3CL1 chemokine (C-X3-C motif) ligand 1 ABCD-3, C3Xkine, CXC3, CXC3C, NTN, SCYD1, fractalkine, neurotactin Yes No Comparative Toxicogenomics Database:6376, Ensembl:ENSG00000006210, GenAtlas:CX3CL1, GeneCard:CX3CL1, HGNC:HGNC:10647, HumanCyc Gene:HS00172, ModBase:P78423, NCBI Gene:6376, OMIM:601880, RefSeq DNA:NT_010498, RefSeq Protein:NP_002987, RefSeq RNA:NM_002996, UCSC Genome Browser:NM_002996, UniProtKB:A0N0N7, UniProtKB:P78423 No chr16 57406414 57418956 57372461 57385048 +PA27054 1524 HGNC:2558 ENSG00000168329 C-X3-C motif chemokine receptor 1 CX3CR1 chemokine (C-X3-C motif) receptor 1 CCRL1, CMKBRL1, CMKDR1, GPR13, V28 Yes No Comparative Toxicogenomics Database:1524, Ensembl:ENSG00000168329, GenAtlas:CX3CR1, GeneCard:CX3CR1, HGNC:HGNC:2558, HumanCyc Gene:HS09736, IUPHAR Receptor:74, ModBase:P49238, NCBI Gene:1524, OMIM:601470, OMIM:602075, OMIM:603075, OMIM:607339, OMIM:609423, RefSeq DNA:NG_016362, RefSeq DNA:NT_022517, RefSeq Protein:NP_001164642, RefSeq Protein:NP_001164643, RefSeq Protein:NP_001164645, RefSeq Protein:NP_001328, RefSeq RNA:NM_001171171, RefSeq RNA:NM_001171172, RefSeq RNA:NM_001171174, RefSeq RNA:NM_001337, UCSC Genome Browser:NM_001337, UniProtKB:P49238 No chr3 39304985 39323226 39263494 39281735 +PA27055 1525 HGNC:2559 ENSG00000154639 CXADR Ig-like cell adhesion molecule CXADR """CXADR, Ig-like cell adhesion molecule"", ""coxsackie virus and adenovirus receptor""" CAR Yes No Comparative Toxicogenomics Database:1525, Ensembl:ENSG00000154639, GenAtlas:CXADR, GeneCard:CXADR, HGNC:HGNC:2559, HumanCyc Gene:HS07993, ModBase:P78310, NCBI Gene:1525, OMIM:602621, RefSeq DNA:NT_011512, RefSeq Protein:NP_001193992, RefSeq Protein:NP_001193993, RefSeq Protein:NP_001193994, RefSeq Protein:NP_001193995, RefSeq Protein:NP_001329, RefSeq RNA:NM_001207063, RefSeq RNA:NM_001207064, RefSeq RNA:NM_001207065, RefSeq RNA:NM_001207066, RefSeq RNA:NM_001338, UCSC Genome Browser:NM_001338, UniProtKB:P78310 No chr21 18885224 18965897 17512906 17636213 +PA35050 2919 HGNC:4602 ENSG00000163739 C-X-C motif chemokine ligand 1 CXCL1 """chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)"", ""melanoma growth stimulating activity, alpha""" FSP, GRO1, GROa, MGSA, MGSA-a, NAP-3, SCYB1 Yes No Comparative Toxicogenomics Database:2919, Ensembl:ENSG00000163739, GenAtlas:CXCL1, GeneCard:CXCL1, HGNC:HGNC:4602, HumanCyc Gene:HS08927, ModBase:P09341, NCBI Gene:2919, OMIM:155730, RefSeq DNA:NT_022778, RefSeq Protein:NP_001502, RefSeq RNA:NM_001511, UCSC Genome Browser:NM_001511, UniProtKB:P09341 No chr4 74735109 74737019 73869392 73871302 +PA35568 3627 HGNC:10637 ENSG00000169245 C-X-C motif chemokine ligand 10 CXCL10 chemokine (C-X-C motif) ligand 10 C7, IFI10, INP10, IP-10, SCYB10, crg-2, gIP-10, mob-1 Yes Yes Comparative Toxicogenomics Database:3627, Ensembl:ENSG00000169245, GenAtlas:CXCL10, GeneCard:CXCL10, HGNC:HGNC:10637, HumanCyc Gene:HS09913, ModBase:P02778, NCBI Gene:3627, OMIM:147310, RefSeq DNA:NT_016354, RefSeq Protein:NP_001556, RefSeq RNA:NM_001565, UCSC Genome Browser:NM_001565, UniProtKB:P02778 No chr4 76942269 76944689 76021116 76023536 +PA35569 6373 HGNC:10638 ENSG00000169248 C-X-C motif chemokine ligand 11 CXCL11 chemokine (C-X-C motif) ligand 11 H174, I-TAC, IP-9, SCYB11, SCYB9B, b-R1 Yes No Comparative Toxicogenomics Database:6373, Ensembl:ENSG00000169248, GenAtlas:CXCL11, GeneCard:CXCL11, HGNC:HGNC:10638, HumanCyc Gene:HS09914, ModBase:O14625, NCBI Gene:6373, OMIM:604852, RefSeq DNA:NT_016354, RefSeq Protein:NP_005400, RefSeq RNA:NM_005409, UCSC Genome Browser:NM_005409, UniProtKB:O14625 No chr4 76954835 76957350 76033682 76036197 +PA35602 6387 HGNC:10672 ENSG00000107562 C-X-C motif chemokine ligand 12 CXCL12 chemokine (C-X-C motif) ligand 12 PBSF, SCYB12, SDF-1a, SDF-1b, SDF1, SDF1A, SDF1B, TLSF-a, TLSF-b, TPAR1 Yes Yes Comparative Toxicogenomics Database:6387, Ensembl:ENSG00000107562, GenAtlas:CXCL12, GeneCard:CXCL12, HGNC:HGNC:10672, HumanCyc Gene:HS03006, ModBase:P48061, NCBI Gene:6387, OMIM:600835, OMIM:609423, RefSeq DNA:NG_016861, RefSeq DNA:NT_033985, RefSeq Protein:NP_000600, RefSeq Protein:NP_001029058, RefSeq Protein:NP_001171605, RefSeq Protein:NP_954637, RefSeq RNA:NM_000609, RefSeq RNA:NM_001033886, RefSeq RNA:NM_001178134, RefSeq RNA:NM_199168, UCSC Genome Browser:NM_000609, UniProtKB:P48061, UniProtKB:Q2L988, UniProtKB:Q5IT36, UniProtKB:Q6ICW0 No chr10 44865601 44880545 44292088 44385097 +PA35570 10563 HGNC:10639 ENSG00000156234 C-X-C motif chemokine ligand 13 CXCL13 B-cell chemoattractant, chemokine (C-X-C motif) ligand 13 ANGIE, ANGIE2, BCA-1, BLC, BLR1L, SCYB13 Yes No Comparative Toxicogenomics Database:10563, Ensembl:ENSG00000156234, GenAtlas:CXCL13, GeneCard:CXCL13, HGNC:HGNC:10639, HumanCyc Gene:HS08107, ModBase:O43927, NCBI Gene:10563, OMIM:605149, RefSeq DNA:NT_016354, RefSeq Protein:NP_006410, RefSeq RNA:NM_006419, UCSC Genome Browser:NM_006419, UniProtKB:O43927, UniProtKB:Q53X90 No chr4 78432907 78532988 77511753 77611834 +PA35571 9547 HGNC:10640 ENSG00000145824 C-X-C motif chemokine ligand 14 CXCL14 breast and kidney, chemokine (C-X-C motif) ligand 14 BMAC, BRAK, KS1, Kec, MIP-2g, NJAC, SCYB14, bolekine Yes No Comparative Toxicogenomics Database:9547, Ensembl:ENSG00000145824, GenAtlas:CXCL14, GeneCard:CXCL14, HGNC:HGNC:10640, HumanCyc Gene:HS07289, ModBase:O95715, NCBI Gene:9547, OMIM:604186, RefSeq DNA:NT_034772, RefSeq Protein:NP_004878, RefSeq RNA:NM_004887, UCSC Genome Browser:NM_004887, UniProtKB:O95715 No chr5 134906369 134914969 135570679 135579279 +PA27057 58191 HGNC:16642 ENSG00000161921 C-X-C motif chemokine ligand 16 CXCL16 CXC chemokine ligand 16, chemokine (C-X-C motif) ligand 16 CXCLG16, SR-PSOX, SRPSOX Yes No Comparative Toxicogenomics Database:58191, Ensembl:ENSG00000161921, GenAtlas:CXCL16, GeneCard:CXCL16, HGNC:HGNC:16642, HumanCyc Gene:HS08623, NCBI Gene:58191, OMIM:605398, RefSeq DNA:NT_010718, RefSeq Protein:NP_001094282, RefSeq Protein:NP_071342, RefSeq RNA:NM_001100812, RefSeq RNA:NM_022059, UCSC Genome Browser:NM_022059, UniProtKB:Q9H2A7 No chr17 4636828 4643223 4733529 4739928 +PA162383045 284340 HGNC:19232 ENSG00000189377 C-X-C motif chemokine ligand 17 CXCL17 chemokine (C-X-C motif) ligand 17 DMC, Dcip1, UNQ473, VCC1 Yes No Ensembl:ENSG00000189377, GeneCard:CXCL17, HGNC:HGNC:19232, NCBI Gene:284340, OMIM:611387, RefSeq DNA:NT_011109, RefSeq Protein:NP_940879, RefSeq RNA:NM_198477, UniProtKB:Q6UXB2 No chr19 42932695 42947136 42428538 42443048 +PA35051 2920 HGNC:4603 ENSG00000081041 C-X-C motif chemokine ligand 2 CXCL2 chemokine (C-X-C motif) ligand 2 CINC-2a, GRO2, GROb, MGSA-b, MIP-2a, SCYB2 Yes No Comparative Toxicogenomics Database:2920, Ensembl:ENSG00000081041, GenAtlas:CXCL2, GeneCard:CXCL2, HGNC:HGNC:4603, HumanCyc Gene:HS01380, ModBase:P19875, NCBI Gene:2920, OMIM:139110, RefSeq DNA:NT_022778, RefSeq Protein:NP_002080, RefSeq RNA:NM_002089, UCSC Genome Browser:NM_002089, UniProtKB:P19875 No chr4 74962752 74964997 74097035 74099280 +PA35052 2921 HGNC:4604 ENSG00000163734 C-X-C motif chemokine ligand 3 CXCL3 chemokine (C-X-C motif) ligand 3 CINC-2b, GRO3, GROg, MIP-2b, SCYB3 Yes No Comparative Toxicogenomics Database:2921, Ensembl:ENSG00000163734, GenAtlas:CXCL3, GeneCard:CXCL3, HGNC:HGNC:4604, HumanCyc Gene:HS08922, ModBase:P19876, NCBI Gene:2921, OMIM:139111, RefSeq DNA:NT_022778, RefSeq Protein:NP_002081, RefSeq RNA:NM_002090, UCSC Genome Browser:NM_002090, UniProtKB:P19876 No chr4 74902306 74904490 74036589 74038773 +PA35573 6374 HGNC:10642 ENSG00000163735 C-X-C motif chemokine ligand 5 CXCL5 chemokine (C-X-C motif) ligand 5 ENA-78, SCYB5 Yes Yes Comparative Toxicogenomics Database:6374, Ensembl:ENSG00000163735, GenAtlas:CXCL5, GeneCard:CXCL5, HGNC:HGNC:10642, HumanCyc Gene:HS08923, ModBase:P42830, NCBI Gene:6374, OMIM:600324, RefSeq DNA:NT_022778, RefSeq Protein:NP_002985, RefSeq RNA:NM_002994, UCSC Genome Browser:NM_002994, UniProtKB:P42830, UniProtKB:Q6I9S7 No chr4 74861359 74864446 73995642 73998729 +PA35574 6372 HGNC:10643 ENSG00000124875 C-X-C motif chemokine ligand 6 CXCL6 chemokine (C-X-C motif) ligand 6, granulocyte chemotactic protein 2 CKA-3, GCP-2, SCYB6 Yes No Comparative Toxicogenomics Database:6372, Ensembl:ENSG00000124875, GenAtlas:CXCL6, GeneCard:CXCL6, HGNC:HGNC:10643, HumanCyc Gene:HS04845, ModBase:P80162, NCBI Gene:6372, OMIM:138965, RefSeq DNA:NT_022778, RefSeq Protein:NP_002984, RefSeq RNA:NM_002993, UCSC Genome Browser:NM_002993, UniProtKB:P80162 No chr4 74702273 74704477 73836556 73838760 +PA29841 3576 HGNC:6025 ENSG00000169429 C-X-C motif chemokine ligand 8 CXCL8 alveolar macrophage chemotactic factor I, beta endothelial cell-derived neutrophil activating peptide, chemokine (C-X-C motif) ligand 8, granulocyte chemotactic protein 1, interleukin 8, lung giant cell carcinoma-derived chemotactic protein, lymphocyte derived neutrophil activating peptide, monocyte-derived neutrophil chemotactic factor, monocyte-derived neutrophil-activating peptide, neutrophil-activating peptide 1, tumor necrosis factor-induced gene 1 3-10C, AMCF-I, CXCL8, GCP-1, GCP1, IL-8, IL8, K60, LECT, LUCT, LYNAP, MDNCF, MONAP, NAF, NAP-1, NAP1, SCYB8, TSG-1, b-ENAP Yes Yes Comparative Toxicogenomics Database:3576, Ensembl:ENSG00000169429, GenAtlas:IL8, GeneCard:IL8, HGNC:HGNC:6025, HumanCyc Gene:HS09947, ModBase:P10145, NCBI Gene:3576, OMIM:146930, RefSeq DNA:NT_022778, RefSeq Protein:NP_000575, RefSeq RNA:NM_000584, UCSC Genome Browser:NM_000584, UniProtKB:P10145 No chr4 74606223 74609433 73740506 73743716 +PA35495 4283 HGNC:7098 ENSG00000138755 C-X-C motif chemokine ligand 9 CXCL9 chemokine (C-X-C motif) ligand 9 CMK, Humig, MIG, SCYB9, crg-10 Yes No Comparative Toxicogenomics Database:4283, Ensembl:ENSG00000138755, GenAtlas:CXCL9, GeneCard:CXCL9, HGNC:HGNC:7098, HumanCyc Gene:HS06547, ModBase:Q07325, NCBI Gene:4283, OMIM:601704, RefSeq DNA:NT_016354, RefSeq Protein:NP_002407, RefSeq RNA:NM_002416, UCSC Genome Browser:NM_002416, UniProtKB:Q07325 No chr4 76922623 76928641 76001342 76007523 +PA29842 3577 HGNC:6026 ENSG00000163464 C-X-C motif chemokine receptor 1 CXCR1 chemokine (C-X-C motif) receptor 1 CD181, CDw128a, CKR-1, CMKAR1, IL8RA Yes No Comparative Toxicogenomics Database:3577, Ensembl:ENSG00000163464, GenAtlas:IL8RA, GeneCard:CXCR1, GeneCard:IL8RA, HGNC:HGNC:6026, HumanCyc Gene:HS08853, IUPHAR Receptor:68, ModBase:Q8N6T6, NCBI Gene:3577, OMIM:146929, OMIM:609423, RefSeq DNA:NG_011814, RefSeq DNA:NT_005403, RefSeq Protein:NP_000625, RefSeq RNA:NM_000634, UCSC Genome Browser:NM_000634, UniProtKB:P25024 No chr2 219027568 219031716 218162845 218166993 +PA29843 3579 HGNC:6027 ENSG00000180871 C-X-C motif chemokine receptor 2 CXCR2 chemokine (C-X-C motif) receptor 2 CD182, CMKAR2, IL8RB Yes Yes Comparative Toxicogenomics Database:3579, Ensembl:ENSG00000180871, GenAtlas:IL8RB, GeneCard:CXCR2, GeneCard:IL8RB, HGNC:HGNC:6027, HumanCyc Gene:HS11541, IUPHAR Receptor:69, ModBase:P25025, NCBI Gene:3579, OMIM:146928, RefSeq DNA:NT_005403, RefSeq Protein:NP_001161770, RefSeq Protein:NP_001548, RefSeq RNA:NM_001168298, RefSeq RNA:NM_001557, UCSC Genome Browser:NM_001557, UniProtKB:P25025, UniProtKB:Q53PC4 No chr2 218990013 219001976 218125290 218137253 +PA29844 3580 HGNC:6028 ENSG00000229754 chemokine (C-X-C motif) receptor 2 pseudogene 1 CXCR2P1 Yes No Ensembl:ENSG00000229754, GenAtlas:IL8RBP, GeneCard:CXCR2P1, HGNC:HGNC:6028, NCBI Gene:3580, RefSeq DNA:NT_005403, RefSeq RNA:NR_002712 No chr2 218923878 218926013 218059155 218061290 +PA35049 2833 HGNC:4540 ENSG00000186810 C-X-C motif chemokine receptor 3 CXCR3 chemokine (C-X-C motif) receptor 3 CD183, CKR-L2, CMKAR3, GPR9, IP10-R, MigR Yes No Comparative Toxicogenomics Database:2833, Ensembl:ENSG00000186810, GenAtlas:CXCR3, GeneCard:CXCR3, HGNC:HGNC:4540, IUPHAR Receptor:70, ModBase:P49682, NCBI Gene:2833, OMIM:300574, RefSeq DNA:NT_011669, RefSeq Protein:NP_001136269, RefSeq Protein:NP_001495, RefSeq RNA:NM_001142797, RefSeq RNA:NM_001504, UCSC Genome Browser:NM_001504, UniProtKB:P49682 No chrX 70835766 70838367 71615913 71618517 +PA27058 7852 HGNC:2561 ENSG00000121966 C-X-C motif chemokine receptor 4 CXCR4 chemokine (C-X-C motif) receptor 4 CD184, D2S201E, HM89, HSY3RR, LESTR, NPY3R, NPYR, NPYY3R, fusin Yes Yes Comparative Toxicogenomics Database:7852, Ensembl:ENSG00000121966, GenAtlas:CXCR4, GeneCard:CXCR4, HGNC:HGNC:2561, HumanCyc Gene:HS04535, IUPHAR Receptor:71, ModBase:P61073, NCBI Gene:7852, OMIM:162643, OMIM:193670, RefSeq DNA:NG_011587, RefSeq DNA:NT_022135, RefSeq Protein:NP_001008540, RefSeq Protein:NP_003458, RefSeq RNA:NM_001008540, RefSeq RNA:NM_003467, UCSC Genome Browser:NM_003467, UniProtKB:P61073 No chr2 136871919 136875725 136114349 136118155 +PA162383046 643 HGNC:1060 ENSG00000160683 C-X-C motif chemokine receptor 5 CXCR5 chemokine (C-X-C motif) receptor 5 BLR1, CD185, MDR15 Yes No Ensembl:ENSG00000160683, GeneCard:CXCR5, HGNC:HGNC:1060, HumanCyc Gene:HS08518, IUPHAR Receptor:72, ModBase:P32302, NCBI Gene:643, OMIM:601613, RefSeq DNA:NT_033899, RefSeq Protein:NP_001707, RefSeq Protein:NP_116743, RefSeq RNA:NM_001716, RefSeq RNA:NM_032966, UniProtKB:A0N0R2, UniProtKB:A8K647, UniProtKB:P32302, UniProtKB:Q2YD84 No chr11 118754475 118766980 118883766 118896271 +PA38409 10663 HGNC:16647 ENSG00000172215 C-X-C motif chemokine receptor 6 CXCR6 chemokine (C-X-C motif) receptor 6 BONZO, CD186, STRL33, TYMSTR Yes No Ensembl:ENSG00000172215, GenAtlas:CXCR6, GeneCard:CXCR6, HGNC:HGNC:16647, HumanCyc Gene:HS10471, IUPHAR Receptor:73, ModBase:O00574, NCBI Gene:10663, OMIM:605163, RefSeq DNA:NT_022517, RefSeq Protein:NP_006555, RefSeq RNA:NM_006564, UCSC Genome Browser:NM_006564, UniProtKB:A0N0N3, UniProtKB:O00574 No chr3 45984973 45989845 45940688 45948354 +PA134955144 159013 HGNC:28589 ENSG00000185753 chromosome X open reading frame 38 CXorf38 MGC39350 Yes No Ensembl:ENSG00000185753, GeneCard:CXorf38, HGNC:HGNC:28589, NCBI Gene:159013, RefSeq DNA:NG_016376, RefSeq DNA:NT_079573, RefSeq Protein:NP_659407, RefSeq RNA:NM_144970, UniProtKB:Q8TB03 No chrX 40486173 40506929 40626921 40647678 +PA164718460 100130361 HGNC:30891 ENSG00000215115 chromosome X open reading frame 49 CXorf49 Yes No Ensembl:ENSG00000215115, GeneCard:CXorf49, HGNC:HGNC:30891, NCBI Gene:100130361, RefSeq DNA:NT_011669, RefSeq Protein:NP_001138612, RefSeq RNA:NM_001145140 No chrX 70934224 70938135 71714374 71718285 +PA164718478 100132994 HGNC:34229 ENSG00000215113 chromosome X open reading frame 49B CXorf49B Yes No Ensembl:ENSG00000215113, GeneCard:CXorf49B, HGNC:HGNC:34229, NCBI Gene:100132994, RefSeq DNA:NT_011669, RefSeq Protein:NP_001138611, RefSeq RNA:NM_001145139 No chrX 70983140 70987051 71763290 71767201 +PA162383072 100129239 HGNC:30533 ENSG00000224440 chromosome X open reading frame 51A CXorf51A CXorf51 Yes No Ensembl:ENSG00000224440, GeneCard:CXorf51A, HGNC:HGNC:30533, NCBI Gene:100129239, RefSeq DNA:NT_011681, RefSeq Protein:NP_001137536, RefSeq RNA:NM_001144064 No chrX 145895622 145896249 146814104 146814731 +PA166180601 100133053 HGNC:42787 ENSG00000235699 chromosome X open reading frame 51B CXorf51B Yes No Ensembl:ENSG00000235699, HGNC:HGNC:42787, NCBI Gene:100133053 No 0 0 0 0 +PA145149060 254158 HGNC:26356 ENSG00000165182 chromosome X open reading frame 58 CXorf58 FLJ25444 Yes No Ensembl:ENSG00000165182, GeneCard:CXorf58, HGNC:HGNC:26356, HumanCyc Gene:HS15298, NCBI Gene:254158, RefSeq DNA:NG_016380, RefSeq DNA:NT_167197, RefSeq Protein:NP_001163045, RefSeq Protein:NP_689974, RefSeq RNA:NM_001169574, RefSeq RNA:NM_152761, UniProtKB:B7ZLS7, UniProtKB:Q96LI9 No chrX 23926123 23957624 23907932 23939520 +PA164718500 158830 HGNC:33713 ENSG00000204165 chromosome X open reading frame 65 CXorf65 Yes No Ensembl:ENSG00000204165, GeneCard:CXorf65, HGNC:HGNC:33713, NCBI Gene:158830, RefSeq DNA:NG_021141, RefSeq DNA:NT_011669, RefSeq Protein:NP_001020436, RefSeq RNA:NM_001025265, RefSeq RNA:NR_033212, UniProtKB:A6NEN9 No chrX 70323739 70326784 71103865 71106973 +PA164718516 347487 HGNC:33743 ENSG00000203933 chromosome X open reading frame 66 CXorf66 secreted glycoprotein, X-linked RP11-35F15.2, SGPX Yes No Ensembl:ENSG00000203933, GeneCard:CXorf66, HGNC:HGNC:33743, NCBI Gene:347487, RefSeq DNA:NG_021221, RefSeq DNA:NT_011786, RefSeq Protein:NP_001013421, RefSeq RNA:NM_001013403, UniProtKB:Q5JRM2 No chrX 139037884 139047677 139955725 139965518 +PA134908762 30827 HGNC:24343 ENSG00000154832 CXXC finger protein 1 CXXC1 """CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1""" CFP1, CGBP, HsT2645, PCCX1, PHF18, SPP1, ZCGPC1, hCGBP Yes No Comparative Toxicogenomics Database:30827, Ensembl:ENSG00000154832, GeneCard:CXXC1, HGNC:HGNC:24343, HumanCyc Gene:HS08013, ModBase:Q9P0U4, NCBI Gene:30827, OMIM:609150, RefSeq DNA:NT_010966, RefSeq Protein:NP_001095124, RefSeq Protein:NP_055408, RefSeq RNA:NM_001101654, RefSeq RNA:NM_014593, UniProtKB:Q9P0U4 No chr18 47808713 47814692 50282343 50288322 +PA134958275 392459 HGNC:27864 ENSG00000187893 CXXC finger protein 1 pseudogene 1 CXXC1P1 FLJ36789 Yes No Ensembl:ENSG00000187893, HGNC:HGNC:27864, NCBI Gene:392459, RefSeq DNA:NT_079573, RefSeq Protein:XP_001714076, RefSeq Protein:XP_001714848, RefSeq RNA:NR_033924, RefSeq RNA:XM_001714024, RefSeq RNA:XM_001714796 No chrX 47566590 47596027 47707191 47736628 +PA134992016 80319 HGNC:24593 ENSG00000168772 CXXC finger protein 4 CXXC4 Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex) IDAX Yes Yes Ensembl:ENSG00000168772, GeneCard:CXXC4, HGNC:HGNC:24593, HumanCyc Gene:HS09819, ModBase:Q9H2H0, NCBI Gene:80319, OMIM:611645, RefSeq DNA:NT_016354, RefSeq Protein:NP_079488, RefSeq RNA:NM_025212, UniProtKB:Q9H2H0 No chr4 105389463 105416058 104468306 104494967 +PA128394661 51523 HGNC:26943 ENSG00000171604 CXXC finger protein 5 CXXC5 WT1-induced Inhibitor of Dishevelled, retinoid-inducible nuclear factor HSPC195, RINF, WID Yes No Comparative Toxicogenomics Database:51523, Ensembl:ENSG00000171604, GeneCard:CXXC5, HGNC:HGNC:26943, HumanCyc Gene:HS10351, ModBase:Q7LFL8, NCBI Gene:51523, OMIM:612752, RefSeq DNA:NT_029289, RefSeq Protein:NP_057547, RefSeq RNA:NM_016463, UCSC Genome Browser:NM_016463, UniProtKB:C8CBA8, UniProtKB:Q7LFL8 No chr5 139028301 139063467 139647299 139683885 +PA27069 1534 HGNC:2571 ENSG00000008283 cytochrome b561 CYB561 """Transmembrane ascorbate-dependent reductase CYB561"", ""chromaffin granule CYB561"", ""cytochrome b561 family, member A1"", ""ferric-chelate reductase 2""" CGCytb, CYB561A1, FRRS2 Yes No Comparative Toxicogenomics Database:1534, Ensembl:ENSG00000008283, GenAtlas:CYB561, GeneCard:CYB561, HGNC:HGNC:2571, HumanCyc Gene:HS00241, ModBase:P49447, NCBI Gene:1534, OMIM:600019, RefSeq DNA:NT_010783, RefSeq Protein:NP_001017916, RefSeq Protein:NP_001017917, RefSeq Protein:NP_001906, RefSeq RNA:NM_001017916, RefSeq RNA:NM_001017917, RefSeq RNA:NM_001915, UCSC Genome Browser:NM_001915, UniProtKB:B3KTA1, UniProtKB:P49447 No chr17 61509665 61523724 63432304 63446361 +PA134880796 220002 HGNC:23014 ENSG00000162144 cytochrome b561 family member A3 CYB561A3 """Lysosomal membrane ascorbate-dependent ferrireductase"", ""cytochrome b561 family, member A3"", ""lysosomal cytochrome b561""" CYBASC3, LCYTB Yes No Ensembl:ENSG00000162144, GeneCard:CYBASC3, HGNC:HGNC:23014, HumanCyc Gene:HS08647, ModBase:Q8NBI2, NCBI Gene:220002, RefSeq DNA:NT_167190, RefSeq Protein:NP_001154924, RefSeq Protein:NP_001154926, RefSeq Protein:NP_705839, RefSeq RNA:NM_001161452, RefSeq RNA:NM_001161454, RefSeq RNA:NM_153611, UniProtKB:B4DLN9, UniProtKB:Q8NBI2 No chr11 61116220 61129755 61348748 61362299 +PA134872038 284613 HGNC:26804 ENSG00000174151 cytochrome b561 family member D1 CYB561D1 cytochrome b561 family, member D1 FLJ39035, FLJ44753 Yes No Ensembl:ENSG00000174151, GeneCard:CYB561D1, HGNC:HGNC:26804, ModBase:Q8N8Q1, NCBI Gene:284613, RefSeq DNA:NT_032977, RefSeq Protein:NP_001127872, RefSeq Protein:NP_001127874, RefSeq Protein:NP_001127875, RefSeq Protein:NP_001127876, RefSeq Protein:NP_872386, RefSeq RNA:NM_001134400, RefSeq RNA:NM_001134402, RefSeq RNA:NM_001134403, RefSeq RNA:NM_001134404, RefSeq RNA:NM_182580, UniProtKB:B4DH97, UniProtKB:Q5T6C3, UniProtKB:Q6ZQS1, UniProtKB:Q8N8Q1 No chr1 110036658 110043063 109492830 109500441 +PA134977950 11068 HGNC:30253 ENSG00000271858 cytochrome b561 family member D2 CYB561D2 """cytochrome b561 family, member D2"", ""putative tumor suppressor 101F6"", ""tumor suppressor cytochrome b561""" 101F6, TSCytb, TSP10 Yes No Comparative Toxicogenomics Database:11068, Ensembl:ENSG00000271858, GeneCard:CYB561D2, HGNC:HGNC:30253, HumanCyc Gene:HS03766, ModBase:O14569, NCBI Gene:11068, OMIM:607068, RefSeq DNA:NT_022517, RefSeq Protein:NP_008953, RefSeq RNA:NM_007022, UniProtKB:O14569 No chr3 50388265 50391500 50350695 50368197 +PA27068 1528 HGNC:2570 ENSG00000166347 cytochrome b5 type A CYB5A Microsomal cytochrome b5, cytochrome b5 type A (microsomal) CYB5, MCB5 Yes Yes Comparative Toxicogenomics Database:1528, Ensembl:ENSG00000166347, GenAtlas:CYB5A, GeneCard:CYB5A, HGNC:HGNC:2570, HumanCyc Gene:HS09381, ModBase:P00167, NCBI Gene:1528, OMIM:250790, OMIM:613218, RefSeq DNA:NG_023211, RefSeq DNA:NT_025028, RefSeq Protein:NP_001177736, RefSeq Protein:NP_001905, RefSeq Protein:NP_683725, RefSeq RNA:NM_001190807, RefSeq RNA:NM_001914, RefSeq RNA:NM_148923, UCSC Genome Browser:NM_001914, UniProtKB:P00167 No chr18 71920527 71959251 74253292 74292016 +PA27071 100128621 HGNC:2573 cytochrome b-5 pseudogene 2 CYB5AP2 Yes No GenAtlas:CYB5P2, GeneCard:CYB5P2, HGNC:HGNC:2573, NCBI Gene:100128621 No chr2 170646567 170646885 169790057 169790375 +PA27072 1531 HGNC:2574 ENSG00000258595 cytochrome b5 type A (microsomal) pseudogene 3 CYB5AP3 Psgb-5-1 Yes No Ensembl:ENSG00000258595, GenAtlas:CYB5P3, GeneCard:CYB5AP3, HGNC:HGNC:2574, NCBI Gene:1531, RefSeq DNA:NG_002437, RefSeq DNA:NT_026437 No chr14 93604300 93605122 93137955 93138777 +PA27073 1532 HGNC:2575 ENSG00000213882 cytochrome b5 type A (microsomal) pseudogene 4 CYB5AP4 Psgb-5-2, bA189G24.1 Yes No Ensembl:ENSG00000213882, GenAtlas:CYB5P4, GeneCard:CYB5AP4, HGNC:HGNC:2575, NCBI Gene:1532, RefSeq DNA:NG_001021, RefSeq DNA:NT_011387 No chr20 22866128 22866676 22885490 22886068 +PA27074 100289051 HGNC:2576 cytochrome b-5 pseudogene 5 CYB5AP5 Yes No GenAtlas:CYB5P5, GeneCard:CYB5P5, HGNC:HGNC:2576, NCBI Gene:100289051 No chr14 26677168 26677934 26207962 26208728 +PA143485445 80777 HGNC:24374 ENSG00000103018 cytochrome b5 type B CYB5B cytochrome b5 type B (outer mitochondrial membrane) CYB5-M Yes No Comparative Toxicogenomics Database:80777, Ensembl:ENSG00000103018, GeneCard:CYB5B, HGNC:HGNC:24374, HumanCyc Gene:HS02440, ModBase:O43169, NCBI Gene:80777, OMIM:611964, RefSeq DNA:NT_010498, RefSeq Protein:NP_085056, RefSeq RNA:NM_030579, UniProtKB:O43169 No chr16 69458498 69500167 69424595 69466264 +PA142672058 124637 HGNC:26516 ENSG00000182224 cytochrome b5 domain containing 1 CYB5D1 FLJ32499 Yes No Ensembl:ENSG00000182224, GeneCard:CYB5D1, HGNC:HGNC:26516, ModBase:Q6P9G0, NCBI Gene:124637, RefSeq DNA:NT_010718, RefSeq Protein:NP_653208, RefSeq RNA:NM_144607, UniProtKB:Q6P9G0 No chr17 7761064 7765691 7857746 7864417 +PA142672059 124936 HGNC:28471 ENSG00000167740 cytochrome b5 domain containing 2 CYB5D2 neuferricin MGC32124 Yes No Ensembl:ENSG00000167740, GeneCard:CYB5D2, HGNC:HGNC:28471, HumanCyc Gene:HS09616, ModBase:Q8WUJ1, NCBI Gene:124936, RefSeq DNA:NT_010718, RefSeq Protein:NP_653212, RefSeq RNA:NM_144611, RefSeq RNA:NR_023346, RefSeq RNA:NR_023347, UniProtKB:Q8WUJ1 No chr17 4046441 4060995 4143117 4157701 +PA134979668 51706 HGNC:13397 ENSG00000159348 cytochrome b5 reductase 1 CYB5R1 NQO3A2, humb5R2 Yes No Comparative Toxicogenomics Database:51706, Ensembl:ENSG00000159348, GeneCard:CYB5R1, HGNC:HGNC:13397, HumanCyc Gene:HS08391, ModBase:Q9UHQ9, NCBI Gene:51706, OMIM:608341, RefSeq DNA:NT_004487, RefSeq Protein:NP_057327, RefSeq RNA:NM_016243, UniProtKB:Q9UHQ9 No chr1 202931001 202936404 202961873 202967276 +PA142672060 51700 HGNC:24376 ENSG00000166394 cytochrome b5 reductase 2 CYB5R2 Yes No Comparative Toxicogenomics Database:51700, Ensembl:ENSG00000166394, GeneCard:CYB5R2, HGNC:HGNC:24376, HumanCyc Gene:HS09388, ModBase:Q6BCY4, NCBI Gene:51700, OMIM:608342, RefSeq DNA:NT_009237, RefSeq Protein:NP_057313, RefSeq RNA:NM_016229, UniProtKB:Q6BCY4 No chr11 7686326 7695807 7665095 7678568 +PA27331 1727 HGNC:2873 ENSG00000100243 cytochrome b5 reductase 3 CYB5R3 NADH-cytochrome b5 reductase 3 B5R, DIA1 Yes Yes Comparative Toxicogenomics Database:1727, Ensembl:ENSG00000100243, GenAtlas:CYB5R3, GeneCard:CYB5R3, HGNC:HGNC:2873, HumanCyc Gene:HS02015, ModBase:Q9UL56, NCBI Gene:1727, OMIM:250800, OMIM:613213, RefSeq DNA:NG_012194, RefSeq DNA:NT_011520, RefSeq Protein:NP_000389, RefSeq Protein:NP_001123291, RefSeq Protein:NP_001165131, RefSeq Protein:NP_001165132, RefSeq Protein:NP_015565, RefSeq RNA:NM_000398, RefSeq RNA:NM_001129819, RefSeq RNA:NM_001171660, RefSeq RNA:NM_001171661, RefSeq RNA:NM_007326, UCSC Genome Browser:NM_000398, UniProtKB:B7Z7L3, UniProtKB:P00387 No chr22 43013846 43045405 42617840 42649399 +PA134904907 51167 HGNC:20147 ENSG00000065615 cytochrome b5 reductase 4 CYB5R4 NCB5OR, b5+b5R, dJ676J13.1 Yes No Comparative Toxicogenomics Database:51167, Ensembl:ENSG00000065615, GeneCard:CYB5R4, HGNC:HGNC:20147, HumanCyc Gene:HS00849, ModBase:Q7L1T6, NCBI Gene:51167, OMIM:608343, RefSeq DNA:NT_007299, RefSeq Protein:NP_057314, RefSeq RNA:NM_016230, UniProtKB:Q7L1T6 No chr6 84569370 84670146 83859651 83960427 +PA164718527 606495 HGNC:32220 ENSG00000215883 cytochrome b5 reductase like CYB5RL cytochrome b5 reductase-like LOC606495 Yes No Ensembl:ENSG00000215883, GeneCard:CYB5RL, HGNC:HGNC:32220, NCBI Gene:606495, RefSeq DNA:NT_032977, RefSeq Protein:NP_001026842, RefSeq RNA:NM_001031672, UniProtKB:Q6IPT4 No chr1 54638009 54665746 54172336 54200073 +PA27075 1535 HGNC:2577 ENSG00000051523 cytochrome b-245 alpha chain CYBA """Cytochrome b-245 light chain"", ""cytochrome b-245, alpha polypeptide"", ""flavocytochrome b-558 alpha polypeptide""" p22-PHOX, p22phox Yes Yes Comparative Toxicogenomics Database:1535, Ensembl:ENSG00000051523, GenAtlas:CYBA, GeneCard:CYBA, HGNC:HGNC:2577, HumanCyc Gene:HS00646, NCBI Gene:1535, OMIM:233690, OMIM:608508, RefSeq DNA:NG_007291, RefSeq DNA:NT_010542, RefSeq Protein:NP_000092, RefSeq RNA:NM_000101, UCSC Genome Browser:NM_000101, UniProtKB:P13498 No chr16 88709697 88717492 88643289 88651084 +PA27076 1536 HGNC:2578 ENSG00000165168 cytochrome b-245 beta chain CYBB """Cytochrome b-245 heavy chain"", ""Cytochrome b558 subunit beta"", ""NADPH oxidase 2"", ""cytochrome b-245, beta polypeptide""" CGD, GP91-PHOX, GP91PHOX, NOX2, p91-PHOX Yes No Comparative Toxicogenomics Database:1536, Ensembl:ENSG00000165168, GenAtlas:CYBB, GeneCard:CYBB, HGNC:HGNC:2578, HumanCyc Gene:HS09192, ModBase:P04839, NCBI Gene:1536, OMIM:300481, OMIM:306400, RefSeq DNA:NG_009065, RefSeq DNA:NT_079573, RefSeq Protein:NP_000388, RefSeq RNA:NM_000397, UCSC Genome Browser:NM_000397, UniProtKB:P04839 No chrX 37639266 37672718 37780017 37813461 +PA142672245 79415 HGNC:28672 ENSG00000178927 cytochrome b-245 chaperone 1 CYBC1 chromosome 17 open reading frame 62 C17orf62, Eros, FLJ90469, MGC4368 Yes No Ensembl:ENSG00000178927, GeneCard:C17orf62, HGNC:HGNC:28672, HumanCyc Gene:HS13888, NCBI Gene:79415, RefSeq DNA:NT_010663, RefSeq Protein:NP_001028218, RefSeq Protein:NP_001093877, RefSeq Protein:NP_001093878, RefSeq Protein:NP_001180582, RefSeq Protein:NP_001180583, RefSeq Protein:NP_001180584, RefSeq Protein:NP_001180586, RefSeq RNA:NM_001033046, RefSeq RNA:NM_001100407, RefSeq RNA:NM_001100408, RefSeq RNA:NM_001193653, RefSeq RNA:NM_001193654, RefSeq RNA:NM_001193655, RefSeq RNA:NM_001193657, RefSeq RNA:NR_036514, RefSeq RNA:NR_036516, RefSeq RNA:NR_036517, RefSeq RNA:NR_036518, RefSeq RNA:NR_036519, UniProtKB:Q9BQA9 No chr17 80400462 80408707 82442586 82450831 +PA134970061 79901 HGNC:20797 ENSG00000071967 cytochrome b reductase 1 CYBRD1 """Plasma membrane ascorbate-dependent reductase CYBRD1"", ""cytochrome b561 family, member A2"", ""duodenal cytochrome b"", ""ferric-chelate reductase 3""" CYB561A2, DCYTB, FLJ23462, FRRS3 Yes No Comparative Toxicogenomics Database:79901, Ensembl:ENSG00000071967, GeneCard:CYBRD1, HGNC:HGNC:20797, HumanCyc Gene:HS01046, ModBase:Q53TN4, NCBI Gene:79901, OMIM:605745, RefSeq DNA:NT_005403, RefSeq Protein:NP_001120855, RefSeq Protein:NP_079119, RefSeq RNA:NM_001127383, RefSeq RNA:NM_024843, UniProtKB:Q53TN4, UniProtKB:Q6ZR51 No chr2 172378757 172414643 171522247 171558133 +PA27077 1537 HGNC:2579 ENSG00000179091 cytochrome c1 CYC1 cytochrome c-1 UQCR4 Yes No Comparative Toxicogenomics Database:1537, Ensembl:ENSG00000179091, GenAtlas:CYC1, GeneCard:CYC1, HGNC:HGNC:2579, HumanCyc Gene:HS11349, ModBase:P08574, NCBI Gene:1537, OMIM:123980, RefSeq DNA:NT_008046, RefSeq Protein:NP_001907, RefSeq RNA:NM_001916, UCSC Genome Browser:NM_001916, UniProtKB:P08574 No chr8 145149960 145152428 144095035 144097527 +PA134981636 54205 HGNC:19986 ENSG00000172115 cytochrome c, somatic CYCS CYC, HCS Yes No Comparative Toxicogenomics Database:54205, Ensembl:ENSG00000172115, GeneCard:CYCS, HGNC:HGNC:19986, HumanCyc Gene:HS10450, ModBase:P99999, NCBI Gene:54205, OMIM:123970, OMIM:612004, RefSeq DNA:NG_023438, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_061820, RefSeq RNA:NM_018947, UniProtKB:P99999 No chr7 25158270 25164980 25118651 25125361 +PA134928705 122950 HGNC:20095 ENSG00000271423 cytochrome c, somatic pseudogene 1 CYCSP1 HC5, HCP36 Yes No Ensembl:ENSG00000271423, GeneCard:CYCSP1, HGNC:HGNC:20095, NCBI Gene:122950, RefSeq DNA:NG_002985, RefSeq DNA:NT_026437 No chr14 77100057 77100371 76633714 76634028 +PA142672036 360166 HGNC:24384 ENSG00000232901 cytochrome c, somatic pseudogene 10 CYCSP10 HCP10 Yes No Ensembl:ENSG00000232901, GeneCard:CYCSP10, HGNC:HGNC:24384, NCBI Gene:360166, RefSeq DNA:NG_002961, RefSeq DNA:NT_022517 No chr3 10042324 10042631 10000640 10000947 +PA142672037 360167 HGNC:24385 ENSG00000229217 cytochrome c, somatic pseudogene 11 CYCSP11 HCP11 Yes No Ensembl:ENSG00000229217, GeneCard:CYCSP11, HGNC:HGNC:24385, NCBI Gene:360167, RefSeq DNA:NG_002962, RefSeq DNA:NT_022517 No chr3 10099246 10100140 10057662 10058356 +PA142672038 360168 HGNC:24386 ENSG00000224263 cytochrome c, somatic pseudogene 12 CYCSP12 HCP12, HCP13 Yes No Ensembl:ENSG00000224263, GeneCard:CYCSP12, HGNC:HGNC:24386, NCBI Gene:360168, RefSeq DNA:NG_002963, RefSeq DNA:NT_022517 No chr3 11920291 11920594 11878817 11879120 +PA142672040 360170 HGNC:24388 cytochrome c, somatic pseudogene 14 CYCSP14 HCP14 Yes No GeneCard:CYCSP14, HGNC:HGNC:24388, NCBI Gene:360170, RefSeq DNA:NG_002965, RefSeq DNA:NT_016354 No chr4 130943742 130944038 130022587 130022883 +PA142672041 360171 HGNC:24389 cytochrome c, somatic pseudogene 16 CYCSP16 HCP16 Yes No GeneCard:CYCSP16, HGNC:HGNC:24389, NCBI Gene:360171, RefSeq DNA:NG_002966, RefSeq DNA:NT_007299 No chr6 89712449 89712619 89002730 89002900 +PA142672042 360172 HGNC:24390 ENSG00000219627 cytochrome c, somatic pseudogene 17 CYCSP17 HCP17 Yes No Ensembl:ENSG00000219627, GeneCard:CYCSP17, HGNC:HGNC:24390, NCBI Gene:360172, RefSeq DNA:NG_002967, RefSeq DNA:NT_025741 No chr6 95952058 95952372 95504182 95504496 +PA142672043 360173 HGNC:24391 cytochrome c, somatic pseudogene 18 CYCSP18 HCP18 Yes No GeneCard:CYCSP18, HGNC:HGNC:24391, NCBI Gene:360173, RefSeq DNA:NG_002968, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595 No chr7 95757139 95757374 96127827 96128062 +PA142672044 360174 HGNC:24392 ENSG00000213310 cytochrome c, somatic pseudogene 19 CYCSP19 HCP19 Yes No Ensembl:ENSG00000213310, GeneCard:CYCSP19, HGNC:HGNC:24392, NCBI Gene:360174, RefSeq DNA:NG_002969, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596 No chr7 121038508 121038824 121398454 121398770 +PA134878580 360183 HGNC:24410 ENSG00000259547 cytochrome c, somatic pseudogene 2 CYCSP2 HCP37 Yes No Ensembl:ENSG00000259547, GeneCard:CYCSP2, HGNC:HGNC:24410, NCBI Gene:360183, RefSeq DNA:NG_002986, RefSeq DNA:NT_010194 No chr15 41401063 41401375 41108865 41109177 +PA142672045 349158 HGNC:24394 ENSG00000240416 cytochrome c, somatic pseudogene 20 CYCSP20 HCP20 Yes No Ensembl:ENSG00000240416, GeneCard:CYCSP20, HGNC:HGNC:24394, NCBI Gene:349158, RefSeq DNA:NG_002970, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596 No chr7 128757567 128757881 129117513 129117827 +PA142672046 360175 HGNC:24396 ENSG00000254358 cytochrome c, somatic pseudogene 22 CYCSP22 HCP22 Yes No Ensembl:ENSG00000254358, GeneCard:CYCSP22, HGNC:HGNC:24396, NCBI Gene:360175, RefSeq DNA:NG_002972, RefSeq DNA:NT_008183 No chr8 51675046 51675358 50762486 50762798 +PA142672047 360176 HGNC:24397 ENSG00000253495 cytochrome c, somatic pseudogene 23 CYCSP23 HCP23 Yes No Ensembl:ENSG00000253495, GeneCard:CYCSP23, HGNC:HGNC:24397, NCBI Gene:360176, RefSeq DNA:NG_002973, RefSeq DNA:NT_008046 No chr8 120630396 120630714 119618156 119618474 +PA142672048 360177 HGNC:24398 ENSG00000227666 cytochrome c, somatic pseudogene 24 CYCSP24 HC3, HCP24, HCP31 Yes No Ensembl:ENSG00000227666, GeneCard:CYCSP24, HGNC:HGNC:24398, NCBI Gene:360177, RefSeq DNA:NG_002974, RefSeq DNA:NT_008470 No chr9 96800312 96800627 94038030 94038345 +PA142672049 120528 HGNC:24399 ENSG00000255370 cytochrome c, somatic pseudogene 25 CYCSP25 HC10, HCP25 Yes No Ensembl:ENSG00000255370, GeneCard:CYCSP25, HGNC:HGNC:24399, NCBI Gene:120528, RefSeq DNA:NG_002975, RefSeq DNA:NT_009237 No chr11 31302215 31302534 31280668 31280987 +PA142672050 360178 HGNC:24400 ENSG00000254601 cytochrome c, somatic pseudogene 26 CYCSP26 HCP26 Yes No Ensembl:ENSG00000254601, GeneCard:CYCSP26, HGNC:HGNC:24400, NCBI Gene:360178, RefSeq DNA:NG_002976, RefSeq DNA:NT_167190 No chr11 57772858 57773182 58005386 58005710 +PA142672051 341148 HGNC:24401 ENSG00000255444 cytochrome c, somatic pseudogene 27 CYCSP27 HCP27 Yes No Ensembl:ENSG00000255444, GeneCard:CYCSP27, HGNC:HGNC:24401, NCBI Gene:341148, RefSeq DNA:NG_002977, RefSeq DNA:NT_167190 No chr11 74193295 74193592 74482250 74482547 +PA142672052 360179 HGNC:24402 ENSG00000255003 cytochrome c, somatic pseudogene 28 CYCSP28 HCP28 Yes No Ensembl:ENSG00000255003, GeneCard:CYCSP28, HGNC:HGNC:24402, NCBI Gene:360179, RefSeq DNA:NG_002978, RefSeq DNA:NT_167190 No chr11 83039969 83040294 83328926 83329251 +PA142672053 360180 HGNC:24403 ENSG00000255379 cytochrome c, somatic pseudogene 29 CYCSP29 HCP29 Yes No Ensembl:ENSG00000255379, GeneCard:CYCSP29, HGNC:HGNC:24403, NCBI Gene:360180, RefSeq DNA:NG_002979, RefSeq DNA:NT_033899 No chr11 108693060 108693377 108822333 108822650 +PA134919912 349198 HGNC:24395 cytochrome c, somatic pseudogene 3 CYCSP3 HCP21, HS7 Yes No GeneCard:CYCSP3, HGNC:HGNC:24395, NCBI Gene:349198, RefSeq DNA:NG_002971, RefSeq DNA:NT_167187 No chr8 33827079 33827396 33969561 33969878 +PA142672054 121026 HGNC:24405 ENSG00000257648 cytochrome c, somatic pseudogene 30 CYCSP30 HCP30 Yes No Ensembl:ENSG00000257648, GeneCard:CYCSP30, HGNC:HGNC:24405, NCBI Gene:121026, RefSeq DNA:NG_002980, RefSeq DNA:NT_029419 No chr12 88140324 88144091 87746547 87750314 +PA142672055 360181 HGNC:24406 ENSG00000223625 cytochrome c, somatic pseudogene 32 CYCSP32 HCP32 Yes No Ensembl:ENSG00000223625, GeneCard:CYCSP32, HGNC:HGNC:24406, NCBI Gene:360181, RefSeq DNA:NG_002981, RefSeq DNA:NT_024524 No chr13 20032541 20032858 19458401 19458718 +PA142672056 221180 HGNC:24407 ENSG00000233545 cytochrome c, somatic pseudogene 33 CYCSP33 HCP33 Yes No Ensembl:ENSG00000233545, GeneCard:CYCSP33, HGNC:HGNC:24407, NCBI Gene:221180, RefSeq DNA:NG_002982, RefSeq DNA:NT_024524 No chr13 24974850 24975167 24400712 24401029 +PA142672017 360182 HGNC:24408 ENSG00000176268 cytochrome c, somatic pseudogene 34 CYCSP34 HCP34 Yes No Ensembl:ENSG00000176268, GeneCard:CYCSP34, HGNC:HGNC:24408, NCBI Gene:360182, RefSeq DNA:NG_002983, RefSeq DNA:NT_024524 No chr13 41437730 41438042 40863594 40863906 +PA142672018 121916 HGNC:24409 ENSG00000233549 cytochrome c, somatic pseudogene 35 CYCSP35 HC8, HCP35 Yes No Ensembl:ENSG00000233549, GeneCard:CYCSP35, HGNC:HGNC:24409, NCBI Gene:121916, RefSeq DNA:NG_002984, RefSeq DNA:NT_009952 No chr13 99281938 99282250 98629684 98629996 +PA142672019 360184 HGNC:24411 ENSG00000259513 cytochrome c, somatic pseudogene 38 CYCSP38 HC2, HCP38 Yes No Ensembl:ENSG00000259513, GeneCard:CYCSP38, HGNC:HGNC:24411, NCBI Gene:360184, RefSeq DNA:NG_002987, RefSeq DNA:NT_010194 No chr15 60850279 60850552 60558080 60558353 +PA142672020 342358 HGNC:24412 ENSG00000260690 cytochrome c, somatic pseudogene 39 CYCSP39 HC1, HCP39 Yes No Ensembl:ENSG00000260690, GeneCard:CYCSP39, HGNC:HGNC:24412, NCBI Gene:342358, RefSeq DNA:NG_002988, RefSeq DNA:NT_010393 No chr16 25465660 25465968 25454339 25454647 +PA142672031 360157 HGNC:24413 ENSG00000229120 cytochrome c, somatic pseudogene 4 CYCSP4 HCP4 Yes No Ensembl:ENSG00000229120, GeneCard:CYCSP4, HGNC:HGNC:24413, NCBI Gene:360157, RefSeq DNA:NG_002955, RefSeq DNA:NT_004487 No chr1 202338654 202338930 202369526 202369802 +PA142672021 360185 HGNC:24414 ENSG00000262870 cytochrome c, somatic pseudogene 40 CYCSP40 HC7, HCP40 Yes No Ensembl:ENSG00000262870, GeneCard:CYCSP40, HGNC:HGNC:24414, NCBI Gene:360185, RefSeq DNA:NG_002989, RefSeq DNA:NT_010783 No chr17 75195383 75195625 77199301 77199543 +PA27078 360186 HGNC:2580 ENSG00000278678 cytochrome c, somatic pseudogene 41 CYCSP41 HCP41 Yes No Ensembl:ENSG00000278678, GenAtlas:CYCSP41, GeneCard:CYCSP41, HGNC:HGNC:2580, NCBI Gene:360186, RefSeq DNA:NG_002990, RefSeq DNA:NT_029490 No chr21 10935975 10936167 10576290 10576482 +PA27079 343727 HGNC:2581 ENSG00000224524 cytochrome c, somatic pseudogene 42 CYCSP42 Yes No Ensembl:ENSG00000224524, GenAtlas:CYCSP42, GeneCard:CYCSP42, HGNC:HGNC:2581, NCBI Gene:343727, RefSeq DNA:NG_002991, RefSeq DNA:NT_011512 No chr21 16862843 16863101 15490524 15490782 +PA142672022 360187 HGNC:24417 ENSG00000231706 cytochrome c, somatic pseudogene 43 CYCSP43 HCP43 Yes No Ensembl:ENSG00000231706, GeneCard:CYCSP43, HGNC:HGNC:24417, NCBI Gene:360187, RefSeq DNA:NG_002992, RefSeq DNA:NT_011669 No chrX 68705184 68705495 69485341 69485652 +PA142672023 349391 HGNC:24418 ENSG00000233548 cytochrome c, somatic pseudogene 44 CYCSP44 HCP44 Yes No Ensembl:ENSG00000233548, GeneCard:CYCSP44, HGNC:HGNC:24418, NCBI Gene:349391, RefSeq DNA:NG_002993, RefSeq DNA:NT_011681 No chrX 144258102 144258421 145176582 145176901 +PA142672024 352852 HGNC:24419 ENSG00000184844 cytochrome c, somatic pseudogene 45 CYCSP45 HCP45 Yes No Ensembl:ENSG00000184844, GeneCard:CYCSP45, HGNC:HGNC:24419, NCBI Gene:352852, RefSeq DNA:NG_002994, RefSeq DNA:NT_167198 No chrX 153106806 153106923 153841351 153841468 +PA142672025 286550 HGNC:23941 ENSG00000227949 cytochrome c, somatic pseudogene 46 CYCSP46 HCP46, HCP47 Yes No Ensembl:ENSG00000227949, GeneCard:CYCSP46, HGNC:HGNC:23941, NCBI Gene:286550, RefSeq DNA:NG_002926, RefSeq DNA:NT_011875 No chrY 17052569 17053629 14940689 14941749 +PA142672026 360188 HGNC:23942 ENSG00000233843 cytochrome c, somatic pseudogene 48 CYCSP48 HCP48 Yes No Ensembl:ENSG00000233843, GeneCard:CYCSP48, HGNC:HGNC:23942, NCBI Gene:360188, RefSeq DNA:NG_002995, RefSeq DNA:NT_011903 No chrY 28547101 28547377 26400954 26401230 +PA142672027 360009 HGNC:23943 ENSG00000224240 cytochrome c, somatic pseudogene 49 CYCSP49 HCP49 Yes No Ensembl:ENSG00000224240, GeneCard:CYCSP49, HGNC:HGNC:23943, NCBI Gene:360009, RefSeq DNA:NG_002999, RefSeq DNA:NT_011903 No chrY 28695511 28696513 26549364 26550366 +PA142672032 360158 HGNC:24416 ENSG00000227735 cytochrome c, somatic pseudogene 5 CYCSP5 HCP5 Yes Yes Ensembl:ENSG00000227735, GeneCard:CYCSP5, HGNC:HGNC:24416, NCBI Gene:360158, RefSeq DNA:NG_002956, RefSeq DNA:NT_167186 No chr1 244761692 244761989 244598390 244598687 +PA142672028 343045 HGNC:24383 ENSG00000229357 cytochrome c, somatic pseudogene 51 CYCSP51 HCP1 Yes No Ensembl:ENSG00000229357, GeneCard:CYCSP51, HGNC:HGNC:24383, NCBI Gene:343045, RefSeq DNA:NG_002953, RefSeq DNA:NT_004487 No chr1 150876372 150876689 150903896 150904213 +PA142672029 360155 HGNC:24393 ENSG00000235700 cytochrome c, somatic pseudogene 52 CYCSP52 HC6, HCP2 Yes No Ensembl:ENSG00000235700, GeneCard:CYCSP52, HGNC:HGNC:24393, NCBI Gene:360155, RefSeq DNA:NT_004487, RefSeq RNA:NR_001560 No chr1 157098154 157098463 157128362 157128671 +PA142672030 360156 HGNC:24404 ENSG00000234333 cytochrome c, somatic pseudogene 53 CYCSP53 HCP3 Yes No Ensembl:ENSG00000234333, GeneCard:CYCSP53, HGNC:HGNC:24404, NCBI Gene:360156, RefSeq DNA:NG_002954, RefSeq DNA:NT_004487 No chr1 171413823 171414102 171444684 171444963 +PA134902266 157317 HGNC:21252 ENSG00000214810 cytochrome c, somatic pseudogene 55 CYCSP55 HCP15, bA513I15.3 Yes No Ensembl:ENSG00000214810, GeneCard:CYCSP55, HGNC:HGNC:21252, NCBI Gene:157317, RefSeq DNA:NG_007352, RefSeq DNA:NT_007592 No chr6 34187149 34188714 34219372 34220937 +PA142672033 360159 HGNC:24421 ENSG00000214429 cytochrome c, somatic pseudogene 6 CYCSP6 HCP6 Yes No Ensembl:ENSG00000214429, GeneCard:CYCSP6, HGNC:HGNC:24421, NCBI Gene:360159, RefSeq DNA:NG_002957, RefSeq DNA:NT_022184 No chr2 78639910 78640220 78412784 78413094 +PA142672034 164837 HGNC:24422 ENSG00000269383 cytochrome c, somatic pseudogene 7 CYCSP7 HCP7 Yes No Ensembl:ENSG00000269383, GeneCard:CYCSP7, HGNC:HGNC:24422, NCBI Gene:164837, RefSeq DNA:NG_002958, RefSeq DNA:NT_022171 No chr2 100986291 100987013 100369829 100370551 +PA142672035 360160 HGNC:24423 ENSG00000232503 cytochrome c, somatic pseudogene 8 CYCSP8 HCP8 Yes No Ensembl:ENSG00000232503, GeneCard:CYCSP8, HGNC:HGNC:24423, NCBI Gene:360160, RefSeq DNA:NG_002959, RefSeq DNA:NT_022135 No chr2 131534219 131534530 130776646 130776957 +PA38367 23191 HGNC:13759 ENSG00000273749 cytoplasmic FMR1 interacting protein 1 CYFIP1 cytoplasmic FMRP interacting protein 1, selective hybridizing clone KIAA0068, P140SRA-1, SHYC Yes No Comparative Toxicogenomics Database:23191, Ensembl:ENSG00000273749, GenAtlas:CYFIP1, GeneCard:CYFIP1, HGNC:HGNC:13759, HumanCyc Gene:HS12197, ModBase:Q7L576, NCBI Gene:23191, OMIM:606322, RefSeq DNA:NT_078094, RefSeq Protein:NP_001028200, RefSeq Protein:NP_055423, RefSeq RNA:NM_001033028, RefSeq RNA:NM_014608, UCSC Genome Browser:NM_014608, UniProtKB:Q7L576 No chr15 22892667 23003603 22869465 22980906 +PA38368 26999 HGNC:13760 ENSG00000055163 cytoplasmic FMR1 interacting protein 2 CYFIP2 p53 inducible protein PIR121 Yes No Ensembl:ENSG00000055163, GenAtlas:CYFIP2, GeneCard:CYFIP2, HGNC:HGNC:13760, HumanCyc Gene:HS12141, NCBI Gene:26999, OMIM:606323, RefSeq DNA:NT_023133, RefSeq Protein:NP_001032409, RefSeq Protein:NP_001032410, RefSeq Protein:NP_055191, RefSeq RNA:NM_001037332, RefSeq RNA:NM_001037333, RefSeq RNA:NM_014376, UCSC Genome Browser:NM_014376, UniProtKB:Q96F07 No chr5 156693091 156822606 157266080 157395598 +PA27080 114757 HGNC:16505 ENSG00000161544 cytoglobin CYGB histoglobin, stellate cell activation-associated protein HGB, STAP Yes No Comparative Toxicogenomics Database:114757, Ensembl:ENSG00000161544, GenAtlas:CYGB, GeneCard:CYGB, HGNC:HGNC:16505, HumanCyc Gene:HS08591, ModBase:Q8WWM9, NCBI Gene:114757, OMIM:608759, RefSeq DNA:NT_010783, RefSeq Protein:NP_599030, RefSeq RNA:NM_134268, UCSC Genome Browser:NM_134268, UniProtKB:Q8WWM9 No chr17 74523430 74533987 76527348 76557692 +PA27082 1538 HGNC:2582 ENSG00000183035 cylicin 1 CYLC1 """cylicin 1"", ""cylicin, basic protein of sperm head cytoskeleton 1""" Yes No Ensembl:ENSG00000183035, GenAtlas:CYLC1, GeneCard:CYLC1, HGNC:HGNC:2582, ModBase:P35663, NCBI Gene:1538, OMIM:300768, RefSeq DNA:NT_011651, RefSeq Protein:NP_066941, RefSeq RNA:NM_021118, UniProtKB:P35663 No chrX 83116134 83141708 83861126 83886700 +PA27083 1539 HGNC:2583 ENSG00000155833 cylicin 2 CYLC2 cylicin, basic protein of sperm head cytoskeleton 2 Yes No Ensembl:ENSG00000155833, GenAtlas:CYLC2, GeneCard:CYLC2, HGNC:HGNC:2583, HumanCyc Gene:HS08069, ModBase:Q14093, NCBI Gene:1539, OMIM:604035, RefSeq DNA:NT_008470, RefSeq Protein:NP_001331, RefSeq RNA:NM_001340, UCSC Genome Browser:NM_001340, UniProtKB:Q14093, UniProtKB:Q6PEJ5 No chr9 105757593 105780770 102995311 103018488 +PA27084 1540 HGNC:2584 ENSG00000083799 CYLD lysine 63 deubiquitinase CYLD cylindromatosis (turban tumor syndrome), ubiquitin specific peptidase like 2 CYLD1, KIAA0849, USPL2 Yes No Comparative Toxicogenomics Database:1540, Ensembl:ENSG00000083799, GenAtlas:CYLD, GeneCard:CYLD, HGNC:HGNC:2584, HumanCyc Gene:HS01450, ModBase:Q9NQC7, NCBI Gene:1540, OMIM:132700, OMIM:601606, OMIM:605018, OMIM:605041, RefSeq DNA:NG_012061, RefSeq DNA:NT_010498, RefSeq Protein:NP_001035814, RefSeq Protein:NP_001035877, RefSeq Protein:NP_056062, RefSeq RNA:NM_001042355, RefSeq RNA:NM_001042412, RefSeq RNA:NM_015247, UCSC Genome Browser:NM_015247, UniProtKB:Q9NQC7 No chr16 50775961 50835847 50742026 50801935 +PA27087 643160 HGNC:2588 ENSG00000240194 chymosin pseudogene CYMP Yes No Ensembl:ENSG00000240194, GenAtlas:CYMP, GeneCard:CYMP, HGNC:HGNC:2588, NCBI Gene:643160, OMIM:118943, RefSeq DNA:NT_032977, RefSeq RNA:NR_003599 No chr1 111023388 111033891 110480766 110491269 +PA27089 1583 HGNC:2590 ENSG00000140459 cytochrome P450 family 11 subfamily A member 1 CYP11A1 """cholesterol monooxygenase (side-chain-cleaving)"", ""cytochrome P450, family 11, subfamily A, polypeptide 1""" CYP11A, P450SCC Yes No Comparative Toxicogenomics Database:1583, Ensembl:ENSG00000140459, GeneCard:CYP11A1, HGNC:HGNC:2590, HumanCyc Gene:HS06719, ModBase:P05108, NCBI Gene:1583, OMIM:118485, OMIM:201710, RefSeq DNA:NG_007973, RefSeq DNA:NT_010194, RefSeq Protein:NP_000772, RefSeq Protein:NP_001093243, RefSeq RNA:NM_000781, RefSeq RNA:NM_001099773, UCSC Genome Browser:NM_000781, UniProtKB:P05108 No chr15 74630103 74660081 74337762 74367740 +PA133 1584 HGNC:2591 ENSG00000160882 cytochrome P450 family 11 subfamily B member 1 CYP11B1 """cytochrome P450, family 11, subfamily B, polypeptide 1"", ""steroid 11-beta-monooxygenase""" CPN1, CYP11B, FHI, P450C11 Yes No Comparative Toxicogenomics Database:1584, Ensembl:ENSG00000160882, GenAtlas:CYP11B1, GeneCard:CYP11B1, HGNC:HGNC:2591, HumanCyc Gene:HS08547, ModBase:P15538, NCBI Gene:1584, OMIM:103900, OMIM:202010, OMIM:610613, RefSeq DNA:NG_007954, RefSeq DNA:NT_008046, RefSeq Protein:NP_000488, RefSeq Protein:NP_001021384, RefSeq RNA:NM_000497, RefSeq RNA:NM_001026213, UCSC Genome Browser:NM_000497, UniProtKB:P15538, UniProtKB:Q4VAQ9, UniProtKB:Q8TDD0 No chr8 143953773 143961236 142872354 142879839 +PA134 1585 HGNC:2592 ENSG00000179142 cytochrome P450 family 11 subfamily B member 2 CYP11B2 """cytochrome P450, family 11, subfamily B, polypeptide 2"", ""steroid 11-beta-monooxygenase""" ALDOS, CPN2, CYP11B, CYP11BL, P-450C18, P450aldo Yes Yes Comparative Toxicogenomics Database:1585, Ensembl:ENSG00000179142, GenAtlas:CYP11B2, GeneCard:CYP11B2, HGNC:HGNC:2592, HumanCyc Gene:HS11355, ModBase:P19099, NCBI Gene:1585, OMIM:124080, OMIM:203400, OMIM:610600, RefSeq DNA:NG_008374, RefSeq DNA:NT_008046, RefSeq Protein:NP_000489, RefSeq RNA:NM_000498, UCSC Genome Browser:NM_000498, UniProtKB:P19099 No chr8 143991975 143999259 142910559 142917843 +PA27090 1586 HGNC:2593 ENSG00000148795 cytochrome P450 family 17 subfamily A member 1 CYP17A1 """Steroid 17-alpha-monooxygenase"", ""cytochrome P450, family 17, subfamily A, polypeptide 1""" CPT7, CYP17, P450C17, S17AH Yes Yes Comparative Toxicogenomics Database:1586, Ensembl:ENSG00000148795, GeneCard:CYP17A1, HGNC:HGNC:2593, HumanCyc Gene:HS07560, ModBase:P05093, NCBI Gene:1586, OMIM:202110, OMIM:609300, RefSeq DNA:NG_007955, RefSeq DNA:NT_030059, RefSeq Protein:NP_000093, RefSeq RNA:NM_000102, UCSC Genome Browser:NM_000102, UniProtKB:P05093, UniProtKB:Q1HB44 No chr10 104590288 104597290 102830531 102837533 +PA134973774 102724307 HGNC:31671 CYP17A1 antisense RNA 1 CYP17A1-AS1 bA753C18.3 Yes No GeneCard:CYP17A1OS, HGNC:HGNC:31671, NCBI Gene:102724307, RefSeq RNA:XR_132782 No chr10 +PA27091 1588 HGNC:2594 ENSG00000137869 cytochrome P450 family 19 subfamily A member 1 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 ARO, ARO1, CPV1, CYAR, CYP19, P-450AROM, aromatase Yes Yes Comparative Toxicogenomics Database:1588, Ensembl:ENSG00000137869, GeneCard:CYP19A1, HGNC:HGNC:2594, HumanCyc Gene:HS06413, ModBase:P11511, NCBI Gene:1588, OMIM:107910, OMIM:139300, RefSeq DNA:NG_007982, RefSeq DNA:NT_010194, RefSeq Protein:NP_000094, RefSeq Protein:NP_112503, RefSeq RNA:NM_000103, RefSeq RNA:NM_031226, UCSC Genome Browser:NM_000103, UniProtKB:A8K6W3, UniProtKB:P11511, UniProtKB:Q05CU4, UniProtKB:Q8TCA4 No chr15 51500254 51630795 51208057 51338598 +PA27092 1543 HGNC:2595 ENSG00000140465 cytochrome P450 family 1 subfamily A member 1 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 CP11, CYP1, P1-450, P450-C, P450DX Yes Yes Comparative Toxicogenomics Database:1543, Ensembl:ENSG00000140465, GenAtlas:CYP1A1, GeneCard:CYP1A1, HGNC:HGNC:2595, HumanCyc Gene:HS06721, ModBase:P04798, NCBI Gene:1543, OMIM:108330, RefSeq DNA:NG_008431, RefSeq DNA:NT_010194, RefSeq Protein:NP_000490, RefSeq RNA:NM_000499, UCSC Genome Browser:NM_000499, UniProtKB:A0N0X8, UniProtKB:P04798, URL:http://www.imm.ki.se/CYPalleles/cyp1a1.htm No chr15 75011883 75017951 74719542 74725610 +PA27093 1544 HGNC:2596 ENSG00000140505 cytochrome P450 family 1 subfamily A member 2 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 CP12, P3-450 Yes Yes Comparative Toxicogenomics Database:1544, Ensembl:ENSG00000140505, GenAtlas:CYP1A2, GeneCard:CYP1A2, HGNC:HGNC:2596, HumanCyc Gene:HS06728, ModBase:P05177, NCBI Gene:1544, OMIM:124060, RefSeq DNA:NG_008431, RefSeq DNA:NT_010194, RefSeq Protein:NP_000752, RefSeq RNA:NM_000761, UCSC Genome Browser:NM_000761, UniProtKB:P05177, URL:http://www.imm.ki.se/CYPalleles/cyp1a2.htm No chr15 75041184 75048941 74748843 74756600 +PA27094 1545 HGNC:2597 ENSG00000138061 cytochrome P450 family 1 subfamily B member 1 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 CP1B, GLC3A Yes Yes Comparative Toxicogenomics Database:1545, Ensembl:ENSG00000138061, GenAtlas:CYP1B1, GeneCard:CYP1B1, HGNC:HGNC:2597, HumanCyc Gene:HS06443, ModBase:Q16678, NCBI Gene:1545, OMIM:137750, OMIM:137760, OMIM:231300, OMIM:601771, OMIM:604229, RefSeq DNA:NG_008386, RefSeq DNA:NT_022184, RefSeq Protein:NP_000095, RefSeq RNA:NM_000104, UCSC Genome Browser:NM_000104, UniProtKB:Q16678, UniProtKB:Q53TK1, URL:http://www.imm.ki.se/CYPalleles/cyp1b1.htm No chr2 38294746 38303323 38067603 38076181 +PA164717145 285154 HGNC:28543 ENSG00000232973 CYP1B1 antisense RNA 1 CYP1B1-AS1 MGC34824 Yes No Ensembl:ENSG00000232973, GeneCard:C2orf58, HGNC:HGNC:28543, NCBI Gene:285154, RefSeq DNA:NT_022184, RefSeq RNA:NR_027252 No chr2 38358247 38408997 38131105 38181855 +PA134911420 57404 HGNC:20576 ENSG00000119004 cytochrome P450 family 20 subfamily A member 1 CYP20A1 cytochrome P450, family 20, subfamily A, polypeptide 1 CYP-M Yes No Comparative Toxicogenomics Database:57404, Ensembl:ENSG00000119004, GeneCard:CYP20A1, HGNC:HGNC:20576, HumanCyc Gene:HS04270, ModBase:Q6UW02, NCBI Gene:57404, RefSeq DNA:NG_007956, RefSeq DNA:NT_005403, RefSeq Protein:NP_803882, RefSeq RNA:NM_177538, UniProtKB:Q6UW02 No chr2 204103164 204170563 203238441 203305840 +PA27095 1590 HGNC:2599 ENSG00000204338 cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene CYP21A1P P450c21A Yes No Ensembl:ENSG00000204338, GenAtlas:CYP21A1P, GeneCard:CYP21A1P, HGNC:HGNC:2599, NCBI Gene:1590, RefSeq DNA:NG_004658, RefSeq DNA:NT_007592, RefSeq DNA:NT_167245, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_040090, RefSeq RNA:XR_132911 No chr6 31973413 31976686 32005636 32008909 +PA27096 1589 HGNC:2600 ENSG00000206338, ENSG00000231852, ENSG00000232414, ENSG00000233151 cytochrome P450 family 21 subfamily A member 2 CYP21A2 """Steroid 21-monooxygenase"", ""cytochrome P450, family 21, subfamily A, polypeptide 2""" CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B Yes No Comparative Toxicogenomics Database:1589, Ensembl:ENSG00000206338, Ensembl:ENSG00000231852, Ensembl:ENSG00000232414, Ensembl:ENSG00000233151, GenAtlas:CYP21A2, GeneCard:CYP21A2, HGNC:HGNC:2600, HumanCyc Gene:HS09769, ModBase:P08686, NCBI Gene:1589, OMIM:201910, RefSeq DNA:NG_000013, RefSeq DNA:NG_004658, RefSeq DNA:NG_005163, RefSeq DNA:NG_007941, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_000491, RefSeq Protein:NP_001122062, RefSeq Protein:XP_002344048, RefSeq Protein:XP_002344049, RefSeq RNA:NM_000500, RefSeq RNA:NM_001128590, RefSeq RNA:XM_002344007, RefSeq RNA:XM_002344008, UCSC Genome Browser:NM_000500, UniProtKB:Q08AG9, UniProtKB:Q16874, UniProtKB:Q5ST44, UniProtKB:Q96NU8, URL:http://www.imm.ki.se/CYPalleles/cyp21.htm No chr6 32006093 32009447 32038316 32041670 +PA27097 1591 HGNC:2602 ENSG00000019186 cytochrome P450 family 24 subfamily A member 1 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 CP24, CYP24, P450-CC24, lncBCAS1-4_1 Yes Yes Comparative Toxicogenomics Database:1591, Ensembl:ENSG00000019186, GeneCard:CYP24A1, HGNC:HGNC:2602, HumanCyc Gene:HS00395, ModBase:Q07973, NCBI Gene:1591, OMIM:126065, RefSeq DNA:NG_008334, RefSeq DNA:NT_011362, RefSeq Protein:NP_000773, RefSeq Protein:NP_001122387, RefSeq RNA:NM_000782, RefSeq RNA:NM_001128915, UCSC Genome Browser:NM_000782, UniProtKB:Q07973, UniProtKB:Q32ML3 No chr20 52769985 52790516 54145731 54173985 +PA27098 1592 HGNC:2603 ENSG00000095596 cytochrome P450 family 26 subfamily A member 1 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 CP26, CYP26, P450RAI, P450RAI1 Yes No Comparative Toxicogenomics Database:1592, Ensembl:ENSG00000095596, GenAtlas:CYP26A1, GeneCard:CYP26A1, HGNC:HGNC:2603, HumanCyc Gene:HS01828, ModBase:O43174, NCBI Gene:1592, OMIM:602239, PharmVar Gene:CYP26A1, RefSeq DNA:NG_008067, RefSeq DNA:NT_030059, RefSeq Protein:NP_000774, RefSeq Protein:NP_476498, RefSeq RNA:NM_000783, RefSeq RNA:NM_057157, UCSC Genome Browser:NM_000783, UniProtKB:O43174, UniProtKB:Q5VXH9 No chr10 94833232 94837641 93073475 93077884 +PA134879191 56603 HGNC:20581 ENSG00000003137 cytochrome P450 family 26 subfamily B member 1 CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 P450RAI-2 Yes No Comparative Toxicogenomics Database:56603, Ensembl:ENSG00000003137, GeneCard:CYP26B1, HGNC:HGNC:20581, HumanCyc Gene:HS00091, ModBase:Q9NR63, NCBI Gene:56603, OMIM:605207, RefSeq DNA:NG_007957, RefSeq DNA:NT_022184, RefSeq Protein:NP_063938, RefSeq RNA:NM_019885, UniProtKB:Q9NR63 No chr2 72356367 72374991 72129238 72147862 +PA134913464 340665 HGNC:20577 ENSG00000187553 cytochrome P450 family 26 subfamily C member 1 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 Yes No Comparative Toxicogenomics Database:340665, Ensembl:ENSG00000187553, GeneCard:CYP26C1, HGNC:HGNC:20577, ModBase:Q6V0L0, NCBI Gene:340665, OMIM:608428, RefSeq DNA:NG_007958, RefSeq DNA:NT_030059, RefSeq Protein:NP_899230, RefSeq RNA:NM_183374, UniProtKB:Q6V0L0 No chr10 94820565 94829304 93061264 93068697 +PA135 1593 HGNC:2605 ENSG00000135929 cytochrome P450 family 27 subfamily A member 1 CYP27A1 """cerebrotendinous xanthomatosis"", ""cytochrome P450, family 27, subfamily A, polypeptide 1""" CP27, CTX, CYP27 Yes No Comparative Toxicogenomics Database:1593, Ensembl:ENSG00000135929, GenAtlas:CYP27A1, GeneCard:CYP27A1, HGNC:HGNC:2605, HumanCyc Gene:HS06088, ModBase:Q02318, NCBI Gene:1593, OMIM:213700, OMIM:606530, RefSeq DNA:NG_007959, RefSeq DNA:NT_005403, RefSeq Protein:NP_000775, RefSeq RNA:NM_000784, UCSC Genome Browser:NM_000784, UniProtKB:Q02318 No chr2 219646472 219680016 218781006 218815293 +PA27099 1594 HGNC:2606 ENSG00000111012 cytochrome P450 family 27 subfamily B member 1 CYP27B1 """1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"", ""Calcidiol 1-monooxygenase"", ""VDDR I"", ""cytochrome P450, family 27, subfamily B, polypeptide 1""" CYP1, P450c1, PDDR, VDD1 Yes Yes Comparative Toxicogenomics Database:1594, Ensembl:ENSG00000111012, GenAtlas:CYP27B1, GeneCard:CYP27B1, HGNC:HGNC:2606, HumanCyc Gene:HS03361, ModBase:O15528, NCBI Gene:1594, OMIM:264700, OMIM:609506, RefSeq DNA:NG_007076, RefSeq DNA:NT_029419, RefSeq Protein:NP_000776, RefSeq RNA:NM_000785, UCSC Genome Browser:NM_000785, UniProtKB:O15528, UniProtKB:Q548T3 No chr12 58156117 58160976 57762334 57767193 +PA162383091 339761 HGNC:33480 ENSG00000186684 cytochrome P450 family 27 subfamily C member 1 CYP27C1 cytochrome P450, family 27, subfamily C, polypeptide 1 FLJ16008 Yes No Ensembl:ENSG00000186684, GeneCard:CYP27C1, HGNC:HGNC:33480, ModBase:Q4G0S4, NCBI Gene:339761, RefSeq DNA:NG_007986, RefSeq DNA:NT_022135, RefSeq Protein:NP_001001665, RefSeq RNA:NM_001001665, UniProtKB:Q4G0S4 No chr2 127941412 127977654 127183832 127220096 +PA27100 1546 HGNC:2607 cytochrome P450, family 2, subfamily A CYP2A CYP2, P450C2, P450C2A, P450PB Yes No Comparative Toxicogenomics Database:1546, GenAtlas:CYP2A, GeneCard:CYP2A, HGNC:HGNC:2607, NCBI Gene:1546, RefSeq DNA:NG_000008 No chr19 +PA27101 1553 HGNC:2608 ENSG00000197838 cytochrome P450 family 2 subfamily A member 13 CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 CPAD, CYP2A Yes Yes Comparative Toxicogenomics Database:1553, Ensembl:ENSG00000197838, GenAtlas:CYP2A13, GeneCard:CYP2A13, HGNC:HGNC:2608, HumanCyc Gene:HS10333, ModBase:Q16696, NCBI Gene:1553, OMIM:608055, PharmVar Gene:CYP2A13, RefSeq DNA:NG_000008, RefSeq DNA:NG_007928, RefSeq DNA:NT_011109, RefSeq Protein:NP_000757, RefSeq RNA:NM_000766, UCSC Genome Browser:NM_000766, UniProtKB:Q16696, URL:http://www.imm.ki.se/CYPalleles/cyp2a13.htm No chr19 41594356 41602100 41088451 41096195 +PA121 1548 HGNC:2610 ENSG00000255974 cytochrome P450 family 2 subfamily A member 6 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 CPA6, CYP2A, CYP2A3 Yes Yes Comparative Toxicogenomics Database:1548, Ensembl:ENSG00000255974, GenAtlas:CYP2A6, GeneCard:CYP2A6, HGNC:HGNC:2610, HumanCyc Gene:HS10343, NCBI Gene:1548, OMIM:122700, OMIM:122720, OMIM:188890, OMIM:211980, RefSeq DNA:NG_008377.1, RefSeq Protein:NP_000753, RefSeq RNA:NM_000762, UCSC Genome Browser:NM_000762, UniProtKB:P11509, URL:http://www.imm.ki.se/CYPalleles/cyp2a6.htm No chr19 41349446 41356352 40843541 40850447 +PA27102 1549 HGNC:2611 ENSG00000198077 cytochrome P450 family 2 subfamily A member 7 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 CYP2A Yes Yes Comparative Toxicogenomics Database:1549, Ensembl:ENSG00000198077, GenAtlas:CYP2A7, GeneCard:CYP2A7, HGNC:HGNC:2611, HumanCyc Gene:HS09585, ModBase:P20853, NCBI Gene:1549, OMIM:608054, RefSeq DNA:NG_000008, RefSeq DNA:NG_007960, RefSeq DNA:NT_011109, RefSeq Protein:NP_000755, RefSeq Protein:NP_085079, RefSeq RNA:NM_000764, RefSeq RNA:NM_030589, UCSC Genome Browser:NM_000764, UniProtKB:A6NE97, UniProtKB:P20853 No chr19 41381344 41388657 40875439 40885952 +PA27103 1550 HGNC:2612 ENSG00000213908 cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1 CYP2A7P1 CYP2A18PC, CYP2A18PN, CYP2A7PT Yes Yes Ensembl:ENSG00000213908, GenAtlas:CYP2A7P1, GeneCard:CYP2A7P1, HGNC:HGNC:2612, NCBI Gene:1550, RefSeq DNA:NG_000008, RefSeq DNA:NT_011109 No chr19 41530169 41533989 41024251 41028263 +PA123 1555 HGNC:2615 ENSG00000197408 cytochrome P450 family 2 subfamily B member 6 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 CPB6, CYP2B, CYPIIB6 Yes Yes Comparative Toxicogenomics Database:1555, Ensembl:ENSG00000197408, GenAtlas:CYP2B6, GeneCard:CYP2B6, HGNC:HGNC:2615, HumanCyc Gene:HS09587, ModBase:P20813, NCBI Gene:1555, OMIM:123930, PharmVar Gene:CYP2B6, RefSeq DNA:NG_000008, RefSeq DNA:NG_007929, RefSeq DNA:NT_011109, RefSeq Protein:NP_000758, RefSeq RNA:NM_000767, UCSC Genome Browser:NM_000767, UniProtKB:P20813, URL:http://www.imm.ki.se/CYPalleles/cyp2b6.htm Yes chr19 41497138 41524308 40991200 41018402 +PA27106 1556 HGNC:2616 cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 CYP2B7P1 CYP2B, CYP2B7P Yes Yes GenAtlas:CYP2B7P1, GeneCard:CYP2B7P1, HGNC:HGNC:2616, NCBI Gene:1556, RefSeq DNA:NG_000008, RefSeq DNA:NT_011109, RefSeq RNA:NR_001278 No chr19 41430170 41456565 40924265 40950660 +PA127 1562 HGNC:2620 ENSG00000108242 cytochrome P450 family 2 subfamily C member 18 CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18 CPCI, CYP2C, CYP2C17, P450IIC17 Yes Yes Comparative Toxicogenomics Database:1562, Ensembl:ENSG00000108242, GenAtlas:CYP2C18, GeneCard:CYP2C18, HGNC:HGNC:2620, HumanCyc Gene:HS03073, ModBase:P33260, NCBI Gene:1562, OMIM:601131, RefSeq DNA:NG_008373, RefSeq DNA:NT_030059, RefSeq Protein:NP_000763, RefSeq Protein:NP_001122397, RefSeq RNA:NM_000772, RefSeq RNA:NM_001128925, UCSC Genome Browser:NM_000772, UniProtKB:P33260, UniProtKB:Q4VAT5, UniProtKB:Q7Z348 No chr10 96443251 96495947 94683494 94736190 +PA124 1557 HGNC:2621 ENSG00000165841 cytochrome P450 family 2 subfamily C member 19 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 CPCJ, CYP2C, P450IIC19 Yes Yes Comparative Toxicogenomics Database:1557, Ensembl:ENSG00000165841, GenAtlas:CYP2C19, GeneCard:CYP2C19, HGNC:HGNC:2621, HumanCyc Gene:HS09293, ModBase:P33261, NCBI Gene:1557, OMIM:124020, OMIM:609535, PharmVar Gene:CYP2C19, RefSeq DNA:NG_008384, RefSeq DNA:NT_030059, RefSeq Protein:NP_000760, RefSeq RNA:NM_000769, UCSC Genome Browser:NM_000769, UniProtKB:P33261, URL:http://www.imm.ki.se/CYPalleles/cyp2c19.htm Yes chr10 96522463 96612671 94762681 94853205 +PA125 1558 HGNC:2622 ENSG00000138115 cytochrome P450 family 2 subfamily C member 8 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 CPC8 Yes Yes Comparative Toxicogenomics Database:1558, Ensembl:ENSG00000138115, GenAtlas:CYP2C8, GeneCard:CYP2C8, HGNC:HGNC:2622, HumanCyc Gene:HS06459, ModBase:P10632, NCBI Gene:1558, OMIM:601129, PharmVar Gene:CYP2C8, RefSeq DNA:NG_007972, RefSeq DNA:NT_030059, RefSeq Protein:NP_000761, RefSeq Protein:NP_001185782, RefSeq Protein:NP_001185783, RefSeq Protein:NP_001185784, RefSeq RNA:NM_000770, RefSeq RNA:NM_001198853, RefSeq RNA:NM_001198854, RefSeq RNA:NM_001198855, UCSC Genome Browser:NM_000770, UniProtKB:P10632, URL:http://www.imm.ki.se/CYPalleles/cyp2c8.htm Yes chr10 96796529 96829255 95036772 95069512 +PA126 1559 HGNC:2623 ENSG00000138109 cytochrome P450 family 2 subfamily C member 9 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 CYP2C10, P450IIC9 Yes Yes Comparative Toxicogenomics Database:1559, Ensembl:ENSG00000138109, GenAtlas:CYP2C9, GeneCard:CYP2C9, HGNC:HGNC:2623, HumanCyc Gene:HS06458, ModBase:P11712, NCBI Gene:1559, OMIM:122700, OMIM:601130, PharmVar Gene:CYP2C9, RefSeq DNA:NG_008385, RefSeq DNA:NT_030059, RefSeq Protein:NP_000762, RefSeq RNA:NM_000771, UCSC Genome Browser:NM_000771, UniProtKB:P11712, UniProtKB:Q5VX92, URL:http://www.imm.ki.se/CYPalleles/cyp2c9.htm Yes chr10 96698350 96749486 94905867 94989395 +PA128 1565 HGNC:2625 ENSG00000100197 cytochrome P450 family 2 subfamily D member 6 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 CPD6, CYP2D, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2, CYP2DL1, P450-DB1, P450C2D Yes Yes Comparative Toxicogenomics Database:1565, Ensembl:ENSG00000100197, GenAtlas:CYP2D6, GenBank:AY545216.1, GeneCard:CYP2D6, HGNC:HGNC:2625, HumanCyc Gene:HS01997, ModBase:P10635, NCBI Gene:1565, OMIM:124030, OMIM:608902, PharmVar Gene:CYP2D6, RefSeq DNA:NG_008376.4, RefSeq Protein:NP_000097, RefSeq Protein:NP_001020332, RefSeq RNA:NM_000106, RefSeq RNA:NM_001025161, UCSC Genome Browser:NM_000106, UniProtKB:Q6NWU0, UniProtKB:Q6NXU8 Yes chr22 42522501 42526883 42125531 42130881 +PA134926902 1564 HGNC:2624 ENSG00000205702 cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) CYP2D7 """cytochrome P450, family 2, subfamily D, polypeptide 7 (gene/pseudogene)"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1""" CYP2D, CYP2D7, CYP2D7P, CYP2D7P1, CYP2D7P2, CYP2D@ Yes Yes Ensembl:ENSG00000205702, GeneCard:CYP2D7P1, HGNC:HGNC:2624, NCBI Gene:1564, RefSeq DNA:NG_003180, RefSeq DNA:NG_005574, RefSeq DNA:NT_011520, RefSeq RNA:NR_002570 No chr22 42536214 42540575 42140203 42144575 +PA129 1571 HGNC:2631 ENSG00000130649 cytochrome P450 family 2 subfamily E member 1 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 CYP2E Yes Yes Comparative Toxicogenomics Database:1571, Ensembl:ENSG00000130649, GeneCard:CYP2E1, HGNC:HGNC:2631, HumanCyc Gene:HS05414, ModBase:P05181, NCBI Gene:1571, OMIM:124040, RefSeq DNA:NG_008383, RefSeq DNA:NT_008818, RefSeq Protein:NP_000764, RefSeq RNA:NM_000773, UCSC Genome Browser:NM_000773, UniProtKB:P05181, URL:http://www.imm.ki.se/CYPalleles/cyp2e1.htm No chr10 135340300 135352627 133527363 133539116 +PA27109 1572 HGNC:2632 ENSG00000197446 cytochrome P450 family 2 subfamily F member 1 CYP2F1 cytochrome P450, family 2, subfamily F, polypeptide 1 CYP2F Yes Yes Comparative Toxicogenomics Database:1572, Ensembl:ENSG00000197446, GenAtlas:CYP2F1, GeneCard:CYP2F1, HGNC:HGNC:2632, HumanCyc Gene:HS05409, ModBase:P24903, NCBI Gene:1572, OMIM:124070, PharmVar Gene:CYP2F1, RefSeq DNA:NG_000008, RefSeq DNA:NG_007930, RefSeq DNA:NT_011109, RefSeq Protein:NP_000765, RefSeq RNA:NM_000774, UCSC Genome Browser:NM_000774, UniProtKB:P24903 No chr19 41620312 41634286 41114292 41128381 +PA27110 22952 HGNC:2633 ENSG00000130612 cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene CYP2G1P CYP2GP1 Yes No Ensembl:ENSG00000130612, GenAtlas:CYP2G1P, GeneCard:CYP2G1P, HGNC:HGNC:2633, NCBI Gene:22952, OMIM:601133, RefSeq DNA:NG_000008, RefSeq DNA:NT_011109, RefSeq RNA:NR_040249 No chr19 41396731 41406413 40890826 40900508 +PA27111 83757 HGNC:15653 ENSG00000268101 cytochrome P450, family 2, subfamily G, polypeptide 2 pseudogene CYP2G2P CYP2GP2 Yes No Ensembl:ENSG00000268101, GenAtlas:CYP2G2P, GeneCard:CYP2G2P, HGNC:HGNC:15653, NCBI Gene:83757, RefSeq DNA:NG_000008, RefSeq DNA:NT_011109 No chr19 41556357 41568349 41050452 41062444 +PA27112 1573 HGNC:2634 ENSG00000134716 cytochrome P450 family 2 subfamily J member 2 CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 Yes Yes Comparative Toxicogenomics Database:1573, Ensembl:ENSG00000134716, GenAtlas:CYP2J2, GeneCard:CYP2J2, HGNC:HGNC:2634, HumanCyc Gene:HS05902, ModBase:P51589, NCBI Gene:1573, OMIM:601258, PharmVar Gene:CYP2J2, RefSeq DNA:NG_007931, RefSeq DNA:NT_032977, RefSeq Protein:NP_000766, RefSeq RNA:NM_000775, UCSC Genome Browser:NM_000775, UniProtKB:P51589, URL:http://www.imm.ki.se/CYPalleles/cyp2j2.htm No chr1 60358980 60392445 59893308 59926798 +PA134986407 120227 HGNC:20580 ENSG00000186104 cytochrome P450 family 2 subfamily R member 1 CYP2R1 """Vitamin D 25-hydroxylase"", ""cytochrome P450, family 2, subfamily R, polypeptide 1""" Yes Yes Comparative Toxicogenomics Database:120227, Ensembl:ENSG00000186104, GeneCard:CYP2R1, HGNC:HGNC:20580, ModBase:Q6VVX0, NCBI Gene:120227, OMIM:600081, OMIM:608713, PharmVar Gene:CYP2R1, RefSeq DNA:NG_007936, RefSeq DNA:NT_009237, RefSeq Protein:NP_078790, RefSeq RNA:NM_024514, UniProtKB:Q6VVX0 No chr11 14899551 14913874 14877436 14898913 +PA27113 29785 HGNC:15654 ENSG00000167600 cytochrome P450 family 2 subfamily S member 1 CYP2S1 cytochrome P450, family 2, subfamily S, polypeptide 1 Yes No Comparative Toxicogenomics Database:29785, Ensembl:ENSG00000167600, GenAtlas:CYP2S1, GeneCard:CYP2S1, HGNC:HGNC:15654, HumanCyc Gene:HS09588, ModBase:Q96SQ9, NCBI Gene:29785, OMIM:611529, PharmVar Gene:CYP2S1, RefSeq DNA:NG_000008, RefSeq DNA:NG_007933, RefSeq DNA:NT_011109, RefSeq Protein:NP_085125, RefSeq RNA:NM_030622, UCSC Genome Browser:NM_030622, UniProtKB:Q96SQ9 No chr19 41699115 41713444 41193207 41207539 +PA38716 163007 HGNC:18853 ENSG00000268529 cytochrome P450, family 2, subfamily T, polypeptide 3 pseudogene CYP2T3P Yes No Ensembl:ENSG00000268529, GenAtlas:CYP2T3P, GeneCard:CYP2T3P, HGNC:HGNC:18853, NCBI Gene:163007, RefSeq DNA:NG_000008, RefSeq DNA:NT_011109 No chr19 41640624 41643258 41134719 41137353 +PA134924269 113612 HGNC:20582 ENSG00000155016 cytochrome P450 family 2 subfamily U member 1 CYP2U1 """cytochrome P450, family 2, subfamily U, polypeptide 1"", ""spastic paraplegia 49""" SPG49, SPG56 Yes No Comparative Toxicogenomics Database:113612, Ensembl:ENSG00000155016, GeneCard:CYP2U1, HGNC:HGNC:20582, ModBase:Q7Z449, NCBI Gene:113612, OMIM:610670, RefSeq DNA:NG_007961, RefSeq DNA:NT_016354, RefSeq Protein:NP_898898, RefSeq RNA:NM_183075, UniProtKB:Q7Z449 No chr4 108852716 108874617 107931549 107953461 +PA134992665 54905 HGNC:20243 ENSG00000073067 cytochrome P450 family 2 subfamily W member 1 CYP2W1 cytochrome P450, family 2, subfamily W, polypeptide 1 FLJ20359, MGC34287 Yes No Comparative Toxicogenomics Database:54905, Ensembl:ENSG00000073067, GeneCard:CYP2W1, HGNC:HGNC:20243, HumanCyc Gene:HS01094, ModBase:Q8TAV3, NCBI Gene:54905, PharmVar Gene:CYP2W1, RefSeq DNA:NG_007934, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_060251, RefSeq RNA:NM_017781, UniProtKB:Q8TAV3 No chr7 1020100 1029276 983157 989640 +PA38452 51302 HGNC:17449 ENSG00000146233 cytochrome P450 family 39 subfamily A member 1 CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 Yes Yes Comparative Toxicogenomics Database:51302, Ensembl:ENSG00000146233, GenAtlas:CYP39A1, GeneCard:CYP39A1, HGNC:HGNC:17449, HumanCyc Gene:HS07335, ModBase:Q9NYL5, NCBI Gene:51302, OMIM:605994, RefSeq DNA:NG_007962, RefSeq DNA:NT_007592, RefSeq Protein:NP_057677, RefSeq RNA:NM_016593, UCSC Genome Browser:NM_016593, UniProtKB:Q9NYL5 No chr6 46517317 46620567 46549580 46652849 +PA130 1576 HGNC:2637 ENSG00000160868 cytochrome P450 family 3 subfamily A member 4 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 CYP3A3 Yes Yes Comparative Toxicogenomics Database:1576, Ensembl:ENSG00000160868, GenAtlas:CYP3A4, GeneCard:CYP3A4, HGNC:HGNC:2637, ModBase:P08684, NCBI Gene:1576, OMIM:124010, PharmVar Gene:CYP3A4, RefSeq DNA:NG_008421.1, RefSeq Protein:NP_001189784, RefSeq Protein:NP_059488, RefSeq RNA:NM_001202855, RefSeq RNA:NM_017460, UCSC Genome Browser:NM_017460, UniProtKB:P08684, UniProtKB:Q6GRK0, URL:http://www.imm.ki.se/CYPalleles/cyp3a4.htm Yes chr7 99354590 99381807 99756967 99784184 +PA427 64816 HGNC:17450 ENSG00000021461 cytochrome P450 family 3 subfamily A member 43 CYP3A43 cytochrome P450, family 3, subfamily A, polypeptide 43 Yes Yes Comparative Toxicogenomics Database:64816, Ensembl:ENSG00000021461, GenAtlas:CYP3A43, GeneCard:CYP3A43, HGNC:HGNC:17450, HumanCyc Gene:HS00409, ModBase:Q9HB55, NCBI Gene:64816, OMIM:606534, PharmVar Gene:CYP3A43, RefSeq DNA:NG_000004, RefSeq DNA:NG_007935, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_073731, RefSeq Protein:NP_476436, RefSeq Protein:NP_476437, RefSeq RNA:NM_022820, RefSeq RNA:NM_057095, RefSeq RNA:NM_057096, UCSC Genome Browser:NM_022820, UniProtKB:Q75MK2, UniProtKB:Q75MK3, UniProtKB:Q9HB55, URL:http://www.imm.ki.se/CYPalleles/cyp3a43.htm No chr7 99425636 99463727 99828013 99867138 +PA131 1577 HGNC:2638 ENSG00000106258 cytochrome P450 family 3 subfamily A member 5 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 CP35, P450PCN3, PCN3 Yes Yes Comparative Toxicogenomics Database:1577, Ensembl:ENSG00000106258, GenAtlas:CYP3A5, GeneCard:CYP3A5, HGNC:HGNC:2638, HumanCyc Gene:HS02875, ModBase:P20815, NCBI Gene:1577, OMIM:145500, OMIM:605325, PharmVar Gene:CYP3A5, RefSeq DNA:NG_007938.2, RefSeq Protein:NP_000768, RefSeq Protein:NP_001177413, RefSeq RNA:NM_000777, RefSeq RNA:NM_001190484, RefSeq RNA:NR_033807, RefSeq RNA:NR_033808, RefSeq RNA:NR_033809, RefSeq RNA:NR_033810, RefSeq RNA:NR_033811, RefSeq RNA:NR_033812, UCSC Genome Browser:NM_000777, UniProtKB:P20815, URL:http://www.imm.ki.se/CYPalleles/cyp3a5.htm Yes chr7 99245817 99277619 99648194 99679996 +PA122 1551 HGNC:2640 ENSG00000160870 cytochrome P450 family 3 subfamily A member 7 CYP3A7 cytochrome P450, family 3, subfamily A, polypeptide 7 CP37, P450-HFLA Yes Yes Comparative Toxicogenomics Database:1551, Ensembl:ENSG00000160870, GenAtlas:CYP3A7, GeneCard:CYP3A7, HGNC:HGNC:2640, HumanCyc Gene:HS08545, ModBase:P24462, NCBI Gene:1551, OMIM:605340, PharmVar Gene:CYP3A7, RefSeq DNA:NG_000004, RefSeq DNA:NG_007983, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000756, RefSeq RNA:NM_000765, UCSC Genome Browser:NM_000765, UniProtKB:P24462, URL:http://www.imm.ki.se/CYPalleles/cyp3a7.htm No chr7 99302660 99332853 99705037 99735200 +PA27117 10858 HGNC:2641 ENSG00000036530 cytochrome P450 family 46 subfamily A member 1 CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1 CYP46 Yes No Comparative Toxicogenomics Database:10858, Ensembl:ENSG00000036530, GeneCard:CYP46A1, HGNC:HGNC:2641, HumanCyc Gene:HS00517, ModBase:Q9Y6A2, NCBI Gene:10858, OMIM:604087, RefSeq DNA:NG_007963, RefSeq DNA:NT_026437, RefSeq Protein:NP_006659, RefSeq RNA:NM_006668, UCSC Genome Browser:NM_006668, UniProtKB:Q9Y6A2 No chr14 100150755 100193638 99684262 99727321 +PA27118 1579 HGNC:2642 ENSG00000187048 cytochrome P450 family 4 subfamily A member 11 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 CYP4A2, CYP4AII Yes Yes Comparative Toxicogenomics Database:1579, Ensembl:ENSG00000187048, GenAtlas:CYP4A11, GeneCard:CYP4A11, HGNC:HGNC:2642, HumanCyc Gene:HS10702, ModBase:Q02928, NCBI Gene:1579, OMIM:601310, RefSeq DNA:NG_007932, RefSeq DNA:NT_032977, RefSeq Protein:NP_000769, RefSeq RNA:NM_000778, UCSC Genome Browser:NM_000778, UniProtKB:Q02928 No chr1 47394846 47407156 46929174 46941484 +PA134979692 284541 HGNC:20575 ENSG00000162365 cytochrome P450 family 4 subfamily A member 22 CYP4A22 cytochrome P450, family 4, subfamily A, polypeptide 22 Yes No Comparative Toxicogenomics Database:284541, Ensembl:ENSG00000162365, GeneCard:CYP4A22, HGNC:HGNC:20575, ModBase:Q5TCH4, NCBI Gene:284541, RefSeq DNA:NG_007937, RefSeq DNA:NT_032977, RefSeq Protein:NP_001010969, RefSeq RNA:NM_001010969, UniProtKB:Q5TCH4 No chr1 47603107 47614528 47137425 47149738 +PA27119 1580 HGNC:2644 ENSG00000142973 cytochrome P450 family 4 subfamily B member 1 CYP4B1 cytochrome P450, family 4, subfamily B, polypeptide 1 Yes Yes Comparative Toxicogenomics Database:1580, Ensembl:ENSG00000142973, GenAtlas:CYP4B1, GeneCard:CYP4B1, HGNC:HGNC:2644, HumanCyc Gene:HS06977, ModBase:P13584, NCBI Gene:1580, OMIM:124075, RefSeq DNA:NG_007939, RefSeq DNA:NT_032977, RefSeq Protein:NP_000770, RefSeq Protein:NP_001093242, RefSeq RNA:NM_000779, RefSeq RNA:NM_001099772, UCSC Genome Browser:NM_000779, UniProtKB:P13584, URL:http://www.imm.ki.se/CYPalleles/cyp4b1.htm No chr1 47264670 47285021 46798995 46819349 +PA27120 57834 HGNC:13265 ENSG00000171903 cytochrome P450 family 4 subfamily F member 11 CYP4F11 cytochrome P450, family 4, subfamily F, polypeptide 11 Yes Yes Ensembl:ENSG00000171903, GenAtlas:CYP4F11, GeneCard:CYP4F11, HGNC:HGNC:13265, HumanCyc Gene:HS10412, ModBase:Q9HBI6, NCBI Gene:57834, OMIM:611517, RefSeq DNA:NG_008335, RefSeq DNA:NT_011295, RefSeq Protein:NP_001122404, RefSeq Protein:NP_067010, RefSeq RNA:NM_001128932, RefSeq RNA:NM_021187, UCSC Genome Browser:NM_021187, UniProtKB:Q9HBI6 No chr19 16023180 16045676 15912370 15934866 +PA38717 66002 HGNC:18857 ENSG00000186204 cytochrome P450 family 4 subfamily F member 12 CYP4F12 cytochrome P450, family 4, subfamily F, polypeptide 12 Yes No Comparative Toxicogenomics Database:66002, Ensembl:ENSG00000186204, GenAtlas:CYP4F12, GeneCard:CYP4F12, HGNC:HGNC:18857, HumanCyc Gene:HS10420, ModBase:Q9HCS2, NCBI Gene:66002, OMIM:611485, RefSeq DNA:NG_008336, RefSeq DNA:NT_011295, RefSeq Protein:NP_076433, RefSeq RNA:NM_023944, UCSC Genome Browser:NM_023944, UniProtKB:Q9HCS2 No chr19 15783567 15807984 15673018 15698819 +PA27121 8529 HGNC:2645 ENSG00000186115 cytochrome P450 family 4 subfamily F member 2 CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2 Yes Yes Comparative Toxicogenomics Database:8529, Ensembl:ENSG00000186115, GenAtlas:CYP4F2, GeneCard:CYP4F2, HGNC:HGNC:2645, HumanCyc Gene:HS02675, ModBase:P78329, NCBI Gene:8529, OMIM:604426, PharmVar Gene:CYP4F2, RefSeq DNA:NG_007971, RefSeq DNA:NT_011295, RefSeq Protein:NP_001073, RefSeq RNA:NM_001082, UCSC Genome Browser:NM_001082, UniProtKB:P78329 Yes chr19 15988834 16008884 15878024 15898120 +PA162383112 126410 HGNC:26820 ENSG00000171954 cytochrome P450 family 4 subfamily F member 22 CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22 FLJ39501 Yes No Ensembl:ENSG00000171954, GeneCard:CYP4F22, HGNC:HGNC:26820, ModBase:Q6NT55, NCBI Gene:126410, OMIM:604777, OMIM:611495, RefSeq DNA:NG_007987, RefSeq DNA:NT_011295, RefSeq Protein:NP_775754, RefSeq RNA:NM_173483, UniProtKB:Q6NT55 No chr19 15619336 15663128 15508487 15552317 +PA27122 54055 HGNC:2647 ENSG00000228314 cytochrome P450, family 4, subfamily F, polypeptide 29, pseudogene CYP4F29P CYP4F-se4[6:7:8] Yes No Ensembl:ENSG00000228314, GenAtlas:CYP4F3LP, GeneCard:CYP4F29P, HGNC:HGNC:2647, NCBI Gene:54055, RefSeq DNA:NG_000927, RefSeq DNA:NT_011512 No chr21 15218979 15220176 13843133 13848364 +PA234 4051 HGNC:2646 ENSG00000186529 cytochrome P450 family 4 subfamily F member 3 CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 CYP4F, LTB4H Yes No Comparative Toxicogenomics Database:4051, Ensembl:ENSG00000186529, GenAtlas:CYP4F3, GeneCard:CYP4F3, HGNC:HGNC:2646, HumanCyc Gene:HS10422, ModBase:Q08477, NCBI Gene:4051, OMIM:601270, RefSeq DNA:NG_007964, RefSeq DNA:NT_011295, RefSeq Protein:NP_000887, RefSeq Protein:NP_001186137, RefSeq Protein:NP_001186138, RefSeq RNA:NM_000896, RefSeq RNA:NM_001199208, RefSeq RNA:NM_001199209, UCSC Genome Browser:NM_000896, UniProtKB:Q08477 No chr19 15751701 15771570 15640897 15660760 +PA134931591 100132708 HGNC:25270 ENSG00000214081 cytochrome P450, family 4, subfamily F, polypeptide 30, pseudogene CYP4F30P 4F-se9[6:7:8], DKFZp434F1719 Yes No Ensembl:ENSG00000214081, GeneCard:CYP4F30P, HGNC:HGNC:25270, NCBI Gene:100132708, RefSeq DNA:NT_022135, RefSeq RNA:NR_023391 No chr2 131437623 131443436 130680050 130685863 +PA405 11283 HGNC:2648 ENSG00000186526 cytochrome P450 family 4 subfamily F member 8 CYP4F8 cytochrome P450, family 4, subfamily F, polypeptide 8 Yes No Ensembl:ENSG00000186526, GenAtlas:CYP4F8, GeneCard:CYP4F8, HGNC:HGNC:2648, ModBase:P98187, NCBI Gene:11283, OMIM:611545, RefSeq DNA:NG_008068, RefSeq DNA:NT_011295, RefSeq Protein:NP_009184, RefSeq RNA:NM_007253, UCSC Genome Browser:NM_007253, UniProtKB:P98187 No chr19 15726029 15740448 15615218 15629638 +PA134912942 285440 HGNC:23198 ENSG00000145476 cytochrome P450 family 4 subfamily V member 2 CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 CYP4AH1 Yes No Comparative Toxicogenomics Database:285440, Ensembl:ENSG00000145476, GeneCard:CYP4V2, HGNC:HGNC:23198, ModBase:Q6ZWL3, NCBI Gene:285440, OMIM:210370, OMIM:608614, RefSeq DNA:NG_007965, RefSeq DNA:NT_016354, RefSeq Protein:NP_997235, RefSeq RNA:NM_207352, UniProtKB:Q6ZWL3 No chr4 187112565 187134617 186191520 186213463 +PA134933184 260293 HGNC:20244 ENSG00000186377 cytochrome P450 family 4 subfamily X member 1 CYP4X1 cytochrome P450, family 4, subfamily X, polypeptide 1 MGC40051 Yes Yes Comparative Toxicogenomics Database:260293, Ensembl:ENSG00000186377, GeneCard:CYP4X1, HGNC:HGNC:20244, HumanCyc Gene:HS11946, ModBase:Q8N118, NCBI Gene:260293, RefSeq DNA:NG_007966, RefSeq DNA:NT_032977, RefSeq Protein:NP_828847, RefSeq RNA:NM_178033, UniProtKB:Q5VVE5, UniProtKB:Q8N118 No chr1 47427036 47516423 46961364 47055432 +PA134941057 199974 HGNC:20583 ENSG00000186160 cytochrome P450 family 4 subfamily Z member 1 CYP4Z1 cytochrome P450, family 4, subfamily Z, polypeptide 1 CYP4A20 Yes No Comparative Toxicogenomics Database:199974, Ensembl:ENSG00000186160, GeneCard:CYP4Z1, HGNC:HGNC:20583, ModBase:Q86W10, NCBI Gene:199974, RefSeq DNA:NG_007967, RefSeq DNA:NT_032977, RefSeq Protein:NP_835235, RefSeq RNA:NM_178134, UniProtKB:Q86W10 No chr1 47533160 47583992 47067488 47118320 +PA27123 1595 HGNC:2649 ENSG00000001630 cytochrome P450 family 51 subfamily A member 1 CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 CP51, CYP51, CYPL1, LDM, P450-14DM, P450L1 Yes Yes Comparative Toxicogenomics Database:1595, Ensembl:ENSG00000001630, GeneCard:CYP51A1, HGNC:HGNC:2649, HumanCyc Gene:HS00076, ModBase:Q16850, NCBI Gene:1595, OMIM:601637, RefSeq DNA:NG_007968, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000777, RefSeq Protein:NP_001139624, RefSeq RNA:NM_000786, RefSeq RNA:NM_001146152, UCSC Genome Browser:NM_000786, UniProtKB:Q16850 No chr7 91741463 91764059 92112149 92134745 +PA132 1581 HGNC:2651 ENSG00000167910 cytochrome P450 family 7 subfamily A member 1 CYP7A1 """cholesterol 7 alpha-monooxygenase"", ""cholesterol 7α-hydroxylase"", ""cytochrome P450, family 7, subfamily A, polypeptide 1""" CYP7 Yes Yes Comparative Toxicogenomics Database:1581, Ensembl:ENSG00000167910, GenAtlas:CYP7A1, GeneCard:CYP7A1, HGNC:HGNC:2651, HumanCyc Gene:HS09659, ModBase:P22680, NCBI Gene:1581, OMIM:118455, RefSeq DNA:NG_007969, RefSeq DNA:NT_008183, RefSeq Protein:NP_000771, RefSeq RNA:NM_000780, UCSC Genome Browser:NM_000780, UniProtKB:P22680 No chr8 59402737 59412720 58490178 58500161 +PA27124 9420 HGNC:2652 ENSG00000172817 cytochrome P450 family 7 subfamily B member 1 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 SPG5A Yes No Comparative Toxicogenomics Database:9420, Ensembl:ENSG00000172817, GenAtlas:CYP7B1, GeneCard:CYP7B1, HGNC:HGNC:2652, HumanCyc Gene:HS10572, ModBase:O75881, NCBI Gene:9420, OMIM:270800, OMIM:603711, RefSeq DNA:NG_008338, RefSeq DNA:NT_008183, RefSeq Protein:NP_004811, RefSeq RNA:NM_004820, UCSC Genome Browser:NM_004820, UniProtKB:O75881, UniProtKB:Q05C57 No chr8 65508529 65711348 64590851 64798791 +PA27125 1582 HGNC:2653 ENSG00000180432 cytochrome P450 family 8 subfamily B member 1 CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 CYP12 Yes No Comparative Toxicogenomics Database:1582, Ensembl:ENSG00000180432, GenAtlas:CYP8B1, GeneCard:CYP8B1, HGNC:HGNC:2653, HumanCyc Gene:HS11491, ModBase:Q9UNU6, NCBI Gene:1582, OMIM:602172, RefSeq DNA:NG_007970, RefSeq DNA:NT_022517, RefSeq Protein:NP_004382, RefSeq RNA:NM_004391, UCSC Genome Browser:NM_004391 No chr3 42913684 42917633 42872192 42876141 +PA162380533 78996 HGNC:22432 ENSG00000122783 cell cycle regulator of NHEJ CYREN chromosome 7 open reading frame 49, modulator of retrovirus infection C7orf49, CYREN-1, CYREN-2, FLJ22450, FLJ27285, MGC5242, MRI, MRI-2 Yes No Ensembl:ENSG00000122783, GeneCard:C7orf49, HGNC:HGNC:22432, HumanCyc Gene:HS13070, NCBI Gene:78996, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_076938, RefSeq RNA:NM_024033, RefSeq RNA:NR_024185, RefSeq RNA:NR_024186, UniProtKB:Q9BWK5 No chr7 134850532 134855578 135092303 135170826 +PA128394730 81553 HGNC:25373 CYFIP related Rac1 interactor A CYRIA """family with sequence similarity 49 member A"", ""family with sequence similarity 49, member A""" CYRI-A, DKFZP566A1524, FAM49A, FLJ11080 Yes No Comparative Toxicogenomics Database:81553, GeneCard:FAM49A, HGNC:HGNC:25373, ModBase:Q9H0Q0, NCBI Gene:81553, RefSeq DNA:NT_015926, RefSeq Protein:NP_110424, RefSeq RNA:NM_030797, UCSC Genome Browser:NM_030797, UniProtKB:Q53QW2, UniProtKB:Q9H0Q0 No chr2 16730727 16847134 16549459 16665866 +PA166352441 51571 HGNC:25216 CYFIP related Rac1 interactor B CYRIB FAM49B BM-009, CYRI, CYRI-B Yes No HGNC:HGNC:25216, NCBI Gene:51571 No 0 0 0 0 +PA38343 192668 HGNC:18525 ENSG00000205795 cystin 1 CYS1 Yes No Comparative Toxicogenomics Database:192668, Ensembl:ENSG00000205795, GenAtlas:CYS1, GeneCard:CYS1, HGNC:HGNC:18525, ModBase:Q717R9, NCBI Gene:192668, RefSeq DNA:NT_005334, RefSeq Protein:NP_001032237, RefSeq RNA:NM_001037160, UniProtKB:Q717R9 No chr2 10196926 10220538 10056799 10080411 +PA38453 10800 HGNC:17451 ENSG00000173198 cysteinyl leukotriene receptor 1 CYSLTR1 CYSLT1R, CysLT(1), CysLT1 Yes No Ensembl:ENSG00000173198, GenAtlas:CYSLTR1, GeneCard:CYSLTR1, HGNC:HGNC:17451, HumanCyc Gene:HS10627, IUPHAR Receptor:269, ModBase:Q9Y271, NCBI Gene:10800, OMIM:300201, RefSeq DNA:NG_012809, RefSeq DNA:NT_011651, RefSeq Protein:NP_006630, RefSeq RNA:NM_006639, UCSC Genome Browser:NM_006639, UniProtKB:Q9Y271 No chrX 77526965 77583193 78271468 78327691 +PA38518 57105 HGNC:18274 ENSG00000152207 cysteinyl leukotriene receptor 2 CYSLTR2 CYSLT2R, CysLT(2) Yes No Comparative Toxicogenomics Database:57105, Ensembl:ENSG00000152207, GenAtlas:CYSLTR2, GeneCard:CYSLTR2, HGNC:HGNC:18274, HumanCyc Gene:HS07796, IUPHAR Receptor:270, ModBase:Q9NS75, NCBI Gene:57105, OMIM:605666, RefSeq DNA:NT_024524, RefSeq Protein:NP_065110, RefSeq RNA:NM_020377, UCSC Genome Browser:NM_020377, UniProtKB:Q5KU17, UniProtKB:Q9NS75 No chr13 49227847 49283498 48653711 48709362 +PA162380848 375791 HGNC:30529 ENSG00000197191 cysteine rich tail 1 CYSRT1 Similar to RIKEN cDNA 2310002J15 gene, chromosome 9 open reading frame 169, cysteine-rich tail protein 1 C9orf169, MGC59937 Yes No Ensembl:ENSG00000197191, GeneCard:C9orf169, HGNC:HGNC:30529, NCBI Gene:375791, RefSeq DNA:NT_024000, RefSeq Protein:NP_945352, RefSeq RNA:NM_199001, UniProtKB:A8MQ03 No chr9 140119086 140120765 137224635 137226311 +PA162380028 84418 HGNC:30239 ENSG00000120306 cysteine rich transmembrane module containing 1 CYSTM1 cysteine-rich transmembrane module containing 1 C5orf32, ORF1-FL49 Yes No Ensembl:ENSG00000120306, GeneCard:C5orf32, HGNC:HGNC:30239, HumanCyc Gene:HS04388, ModBase:Q9H1C7, NCBI Gene:84418, RefSeq DNA:NT_029289, RefSeq Protein:NP_115788, RefSeq RNA:NM_032412, UniProtKB:Q9H1C7 No chr5 139554653 139623374 140175068 140243789 +PA164718528 9267 HGNC:9501 ENSG00000108669 cytohesin 1 CYTH1 B2-1, D17S811E, PSCD1, cytohesin-1 Yes No Ensembl:ENSG00000108669, GeneCard:CYTH1, HGNC:HGNC:9501, HumanCyc Gene:HS03139, ModBase:Q15438, NCBI Gene:9267, OMIM:182115, RefSeq DNA:NT_010783, RefSeq Protein:NP_004753, RefSeq Protein:NP_059430, RefSeq RNA:NM_004762, RefSeq RNA:NM_017456, UniProtKB:Q15438 No chr17 76670130 76778376 78674047 78782342 +PA33849 9266 HGNC:9502 ENSG00000105443 cytohesin 2 CYTH2 ARNO, CTS18.1, PSCD2, PSCD2L, Sec7p-L, Sec7p-like, cytohesin-2 Yes No Ensembl:ENSG00000105443, GenAtlas:PSCD2, GeneCard:CYTH2, GeneCard:PSCD2, HGNC:HGNC:9502, HumanCyc Gene:HS02741, NCBI Gene:9266, OMIM:602488, RefSeq DNA:NT_011109, RefSeq Protein:NP_004219, RefSeq Protein:NP_059431, RefSeq RNA:NM_004228, RefSeq RNA:NM_017457, UCSC Genome Browser:NM_004228, UniProtKB:Q99418 No chr19 48972465 48985571 48469208 48482314 +PA164718590 9265 HGNC:9504 ENSG00000008256 cytohesin 3 CYTH3 ARNO3, GRP1, PSCD3, cytohesin-3 Yes No Ensembl:ENSG00000008256, GeneCard:CYTH3, HGNC:HGNC:9504, HumanCyc Gene:HS00238, ModBase:O43739, NCBI Gene:9265, OMIM:605081, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_004218, RefSeq RNA:NM_004227, UniProtKB:O43739 No chr7 6201407 6312242 6161779 6272611 +PA164718621 27128 HGNC:9505 ENSG00000100055 cytohesin 4 CYTH4 CYT4, PSCD4, cytohesin-4 Yes No Ensembl:ENSG00000100055, GeneCard:CYTH4, HGNC:HGNC:9505, HumanCyc Gene:HS01963, ModBase:Q9UIA0, NCBI Gene:27128, OMIM:606514, RefSeq DNA:NT_011520, RefSeq Protein:NP_037517, RefSeq RNA:NM_013385, UniProtKB:Q9UIA0 No chr22 37678495 37711389 37282383 37315348 +PA164718652 9595 HGNC:9506 ENSG00000115165 cytohesin 1 interacting protein CYTIP cytohesin binder and regulator, cytohesin binding protein HE B3-1, CASP, CYBR, CYTHIP, HE, PSCDBP Yes No Ensembl:ENSG00000115165, GeneCard:CYTIP, HGNC:HGNC:9506, HumanCyc Gene:HS03843, ModBase:O60759, NCBI Gene:9595, OMIM:604448, RefSeq DNA:NT_005403, RefSeq Protein:NP_004279, RefSeq RNA:NM_004288, UniProtKB:O60759 No chr2 158271131 158300604 157412781 157444092 +PA134978681 54360 HGNC:24435 ENSG00000170891 cytokine like 1 CYTL1 cytokine-like 1 C17, C4orf4 Yes No Comparative Toxicogenomics Database:54360, Ensembl:ENSG00000170891, GeneCard:CYTL1, HGNC:HGNC:24435, HumanCyc Gene:HS10200, NCBI Gene:54360, OMIM:607930, RefSeq DNA:NT_006051, RefSeq Protein:NP_061129, RefSeq RNA:NM_018659, UniProtKB:Q9NRR1 No chr4 5016313 5021197 5014586 5019470 +PA27127 116159 HGNC:16274 ENSG00000166265 cysteine and tyrosine rich 1 CYYR1 cysteine/tyrosine-rich 1 C21orf95 Yes No Ensembl:ENSG00000166265, GenAtlas:CYYR1, GeneCard:CYYR1, HGNC:HGNC:16274, HumanCyc Gene:HS09365, ModBase:Q96J86, NCBI Gene:116159, RefSeq DNA:NT_011512, RefSeq Protein:NP_443186, RefSeq RNA:NM_052954, UCSC Genome Browser:NM_052954, UniProtKB:Q96J86 No chr21 27838528 27945603 26466209 26573404 +PA142672441 54987 HGNC:26059 ENSG00000162384 CXXC motif containing zinc binding protein CZIB chromosome 1 open reading frame 123 C1orf123, FLJ20580 Yes No Ensembl:ENSG00000162384, GeneCard:C1orf123, HGNC:HGNC:26059, HumanCyc Gene:HS14910, ModBase:Q9NWV4, NCBI Gene:54987, RefSeq DNA:NT_032977, RefSeq Protein:NP_060357, RefSeq RNA:NM_017887, UniProtKB:Q9NWV4 No chr1 53679771 53686289 53214099 53220639 +PA143485446 728294 HGNC:28358 ENSG00000180902 D-2-hydroxyglutarate dehydrogenase D2HGDH D2HGD, FLJ42195, MGC25181 Yes No Ensembl:ENSG00000180902, GeneCard:D2HGDH, HGNC:HGNC:28358, ModBase:Q8N465, NCBI Gene:728294, OMIM:600721, OMIM:609186, RefSeq DNA:NG_012012, RefSeq DNA:NT_005416, RefSeq Protein:NP_689996, RefSeq RNA:NM_152783, UniProtKB:Q8N465 No chr2 242674030 242708231 241734579 241768816 +PA27129 23002 HGNC:18142 ENSG00000100592 dishevelled associated activator of morphogenesis 1 DAAM1 KIAA0666 Yes No Ensembl:ENSG00000100592, GenAtlas:DAAM1, GeneCard:DAAM1, HGNC:HGNC:18142, HumanCyc Gene:HS02115, ModBase:Q9Y4D1, NCBI Gene:23002, OMIM:606626, RefSeq DNA:NT_026437, RefSeq Protein:NP_055807, RefSeq RNA:NM_014992, UCSC Genome Browser:NM_014992, UniProtKB:Q9Y4D1 No chr14 59655329 59838123 59188611 59371405 +PA27130 23500 HGNC:18143 ENSG00000146122 dishevelled associated activator of morphogenesis 2 DAAM2 KIAA0381, NPHS24 Yes No Ensembl:ENSG00000146122, GenAtlas:DAAM2, GeneCard:DAAM2, HGNC:HGNC:18143, HumanCyc Gene:HS07326, ModBase:Q86T65, NCBI Gene:23500, OMIM:606627, RefSeq DNA:NT_007592, RefSeq Protein:NP_001188356, RefSeq Protein:NP_056160, RefSeq RNA:NM_001201427, RefSeq RNA:NM_015345, UCSC Genome Browser:NM_015345, UniProtKB:Q86T65 No chr6 39760159 39872653 39792366 39904877 +PA27131 1600 HGNC:2661 ENSG00000173406 DAB adaptor protein 1 DAB1 """DAB1, reelin adaptor protein"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""yotari""" Yes No Comparative Toxicogenomics Database:1600, Ensembl:ENSG00000173406, GenAtlas:DAB1, GeneCard:DAB1, HGNC:HGNC:2661, HumanCyc Gene:HS10661, ModBase:Q6NWS9, NCBI Gene:1600, OMIM:603448, RefSeq DNA:NT_032977, RefSeq Protein:NP_066566, RefSeq RNA:NM_021080, UCSC Genome Browser:NM_021080, UniProtKB:O75553 No chr1 57460453 58716211 56997906 58250539 +PA27132 1601 HGNC:2662 ENSG00000153071 DAB adaptor protein 2 DAB2 """DAB2, clathrin adaptor protein"", ""Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)""" DOC-2 Yes No Comparative Toxicogenomics Database:1601, Ensembl:ENSG00000153071, GenAtlas:DAB2, GeneCard:DAB2, HGNC:HGNC:2662, HumanCyc Gene:HS07880, ModBase:P98082, NCBI Gene:1601, OMIM:601236, RefSeq DNA:NT_006576, RefSeq Protein:NP_001334, RefSeq RNA:NM_001343, UCSC Genome Browser:NM_001343, UniProtKB:P98082 No chr5 39371776 39425335 39371674 39425233 +PA27133 153090 HGNC:17294 ENSG00000136848 DAB2 interacting protein DAB2IP ASK-interacting protein, ASK1-interacting protein 1, DOC-2/DAB2 interactive protein, nGAP-like protein AF9Q34, AIP1, DIP1/2, KIAA1743 Yes No Comparative Toxicogenomics Database:153090, Ensembl:ENSG00000136848, GenAtlas:DAB2IP, GeneCard:DAB2IP, HGNC:HGNC:17294, NCBI Gene:153090, OMIM:609205, RefSeq DNA:NT_008470, RefSeq Protein:NP_115941, RefSeq Protein:NP_619723, RefSeq RNA:NM_032552, RefSeq RNA:NM_138709, UCSC Genome Browser:NM_032552, UniProtKB:Q5VWQ8 No chr9 124329162 124547809 121566883 121785530 +PA27134 1602 HGNC:2663 ENSG00000276644 dachshund family transcription factor 1 DACH1 dachshund homolog 1 (Drosophila) DACH Yes No Ensembl:ENSG00000276644, GenAtlas:DACH1, GeneCard:DACH1, HGNC:HGNC:2663, HumanCyc Gene:HS09263, ModBase:Q9UMH4, NCBI Gene:1602, OMIM:603803, RefSeq DNA:NG_011849, RefSeq DNA:NT_024524, RefSeq Protein:NP_004383, RefSeq Protein:NP_542937, RefSeq Protein:NP_542938, RefSeq RNA:NM_004392, RefSeq RNA:NM_080759, RefSeq RNA:NM_080760, UCSC Genome Browser:NM_004392, UniProtKB:D0FY35, UniProtKB:D0FY36, UniProtKB:Q9UI36 No chr13 72012098 72441330 71437966 71868068 +PA27135 117154 HGNC:16814 ENSG00000126733 dachshund family transcription factor 2 DACH2 dachshund homolog 2 (Drosophila) Yes No Ensembl:ENSG00000126733, GenAtlas:DACH2, GeneCard:DACH2, HGNC:HGNC:16814, HumanCyc Gene:HS05041, ModBase:Q96NX9, NCBI Gene:117154, OMIM:300608, RefSeq DNA:NG_012817, RefSeq DNA:NT_011651, RefSeq Protein:NP_001132986, RefSeq Protein:NP_001132987, RefSeq Protein:NP_444511, RefSeq RNA:NM_001139514, RefSeq RNA:NM_001139515, RefSeq RNA:NM_053281, UCSC Genome Browser:NM_053281, UniProtKB:A8K3I1, UniProtKB:B4DQG3, UniProtKB:Q96NX9 No chrX 85403455 86087605 86148451 86832602 +PA134957283 51339 HGNC:17748 ENSG00000165617 dishevelled binding antagonist of beta catenin 1 DACT1 """dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"", ""dishevelled-binding antagonist of beta-catenin 1""" DAPPER, DAPPER1, FRODO, HDPR1, THYEX3 Yes No Comparative Toxicogenomics Database:51339, Ensembl:ENSG00000165617, GeneCard:DACT1, HGNC:HGNC:17748, HumanCyc Gene:HS15343, ModBase:Q9NYF0, NCBI Gene:51339, OMIM:607861, RefSeq DNA:NT_026437, RefSeq Protein:NP_001072988, RefSeq Protein:NP_057735, RefSeq RNA:NM_001079520, RefSeq RNA:NM_016651, UniProtKB:A8MYJ2, UniProtKB:Q9NYF0 No chr14 59100786 59115039 58634068 58648321 +PA134934623 168002 HGNC:21231 ENSG00000164488 dishevelled binding antagonist of beta catenin 2 DACT2 """dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"", ""dishevelled-binding antagonist of beta-catenin 2""" C6orf116, DAPPER2, bA503C24.7 Yes No Comparative Toxicogenomics Database:168002, Ensembl:ENSG00000164488, GeneCard:DACT2, HGNC:HGNC:21231, NCBI Gene:168002, OMIM:608966, RefSeq DNA:NT_025741, RefSeq Protein:NP_999627, RefSeq RNA:NM_214462, UniProtKB:Q5SW24 No chr6 168693510 168720459 168292830 168319754 +PA162383145 147906 HGNC:30745 ENSG00000197380 dishevelled binding antagonist of beta catenin 3 DACT3 """dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"", ""dishevelled-binding antagonist of beta-catenin 3""" DAPPER3, MGC15476, RRR1 Yes No Ensembl:ENSG00000197380, GeneCard:DACT3, HGNC:HGNC:30745, NCBI Gene:147906, OMIM:611112, RefSeq DNA:NT_011109, RefSeq Protein:NP_659493, RefSeq RNA:NM_145056, UniProtKB:Q96B18 No chr19 47150869 47164395 46647564 46661138 +PA27136 1603 HGNC:2664 ENSG00000129562 defender against cell death 1 DAD1 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1, oligosaccharyltransferase 2 homolog (S. cerevisiae), oligosaccharyltransferase subunit 2 (non-catalytic) OST2 Yes No Comparative Toxicogenomics Database:1603, Ensembl:ENSG00000129562, GenAtlas:DAD1, GeneCard:DAD1, HGNC:HGNC:2664, HumanCyc Gene:HS05294, NCBI Gene:1603, OMIM:600243, RefSeq DNA:NT_026437, RefSeq Protein:NP_001335, RefSeq RNA:NM_001344, UCSC Genome Browser:NM_001344, UniProtKB:P61803, UniProtKB:Q53G02 No chr14 23033807 23058143 22564907 22589237 +PA27138 1605 HGNC:2666 ENSG00000173402 dystroglycan 1 DAG1 alpha-dystroglycan, beta-dystroglycan, dystroglycan 1 (dystrophin-associated glycoprotein 1), dystrophin-associated glycoprotein-1 156DAG, A3a, AGRNR, DAG Yes No Comparative Toxicogenomics Database:1605, Ensembl:ENSG00000173402, GenAtlas:DAG1, GeneCard:DAG1, HGNC:HGNC:2666, HumanCyc Gene:HS10659, ModBase:Q14118, NCBI Gene:1605, OMIM:128239, RefSeq DNA:NG_013230, RefSeq DNA:NT_022517, RefSeq Protein:NP_001159400, RefSeq Protein:NP_001171105, RefSeq Protein:NP_001171106, RefSeq Protein:NP_001171107, RefSeq Protein:NP_001171108, RefSeq Protein:NP_001171109, RefSeq Protein:NP_001171110, RefSeq Protein:NP_001171111, RefSeq Protein:NP_001171112, RefSeq Protein:NP_001171113, RefSeq Protein:NP_001171114, RefSeq Protein:NP_001171115, RefSeq Protein:NP_004384, RefSeq RNA:NM_001165928, RefSeq RNA:NM_001177634, RefSeq RNA:NM_001177635, RefSeq RNA:NM_001177636, RefSeq RNA:NM_001177637, RefSeq RNA:NM_001177638, RefSeq RNA:NM_001177639, RefSeq RNA:NM_001177640, RefSeq RNA:NM_001177641, RefSeq RNA:NM_001177642, RefSeq RNA:NM_001177643, RefSeq RNA:NM_001177644, RefSeq RNA:NM_004393, UCSC Genome Browser:NM_004393, UniProtKB:Q14118 No chr3 49506136 49573051 49468703 49535618 +PA162383158 747 HGNC:1165 ENSG00000134780 diacylglycerol lipase alpha DAGLA """diacylglycerol lipase, alpha"", ""neural stem cell-derived dendrite regulator""" C11orf11, DAGLALPHA, KIAA0659, NSDDR Yes No Ensembl:ENSG00000134780, GeneCard:DAGLA, HGNC:HGNC:1165, HumanCyc Gene:HS05911, ModBase:Q9Y4D2, NCBI Gene:747, RefSeq DNA:NT_167190, RefSeq Protein:NP_006124, RefSeq RNA:NM_006133, UniProtKB:Q9Y4D2 No chr11 61447905 61514474 61680184 61747002 +PA162383203 221955 HGNC:28923 ENSG00000164535 diacylglycerol lipase beta DAGLB diacylglycerol lipase, beta DAGLBETA, KCCR13L Yes No Ensembl:ENSG00000164535, GeneCard:DAGLB, HGNC:HGNC:28923, HumanCyc Gene:HS09093, ModBase:Q8NCG7, NCBI Gene:221955, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001136408, RefSeq Protein:NP_631918, RefSeq RNA:NM_001142936, RefSeq RNA:NM_139179, UniProtKB:B4DQU0, UniProtKB:Q8NCG7 No chr7 6448747 6487837 6409116 6448012 +PA134921814 55152 HGNC:25536 ENSG00000178149 DALR anticodon binding domain containing 3 DALRD3 FLJ10496 Yes No Ensembl:ENSG00000178149, GeneCard:DALRD3, HGNC:HGNC:25536, ModBase:Q5D0E6, NCBI Gene:55152, RefSeq DNA:NT_022517, RefSeq Protein:NP_001009996, RefSeq Protein:NP_060584, RefSeq RNA:NM_001009996, RefSeq RNA:NM_018114, UniProtKB:Q5D0E6 No chr3 49052832 49058504 49015399 49021386 +PA147357908 57291 HGNC:28964 ENSG00000226950 differentiation antagonizing non-protein coding RNA DANCR anti-differentiation ncRNA ANCR Yes No Ensembl:ENSG00000226950, GeneCard:KIAA0114, HGNC:HGNC:28964, NCBI Gene:57291, RefSeq DNA:NT_022853, RefSeq RNA:NR_024031 No chr4 53578621 53580305 52712454 52714138 +PA134875268 199699 HGNC:26780 ENSG00000179284 DAN domain BMP antagonist family member 5 DAND5 DAN domain family member 5, BMP antagonist CER2, CKTSF1B3, Coco, DANTE, DTE, FLJ38607, GREM3 Yes No Ensembl:ENSG00000179284, GeneCard:DAND5, HGNC:HGNC:26780, HumanCyc Gene:HS17249, NCBI Gene:199699, OMIM:609068, RefSeq DNA:NT_011295, RefSeq Protein:NP_689867, RefSeq RNA:NM_152654, UniProtKB:Q8N907 No chr19 13080432 13085567 12969618 12974753 +PA27139 1610 HGNC:2671 ENSG00000110887 D-amino acid oxidase DAO D-amino-acid oxidase DAAO, DAMOX Yes Yes Comparative Toxicogenomics Database:1610, Ensembl:ENSG00000110887, GenAtlas:DAO, GeneCard:DAO, HGNC:HGNC:2671, HumanCyc Gene:HS03351, ModBase:P14920, NCBI Gene:1610, OMIM:124050, OMIM:181500, RefSeq DNA:NG_023236, RefSeq DNA:NT_029419, RefSeq Protein:NP_001908, RefSeq RNA:NM_001917, UCSC Genome Browser:NM_001917, UniProtKB:P14920 No chr12 109273806 109294710 108880073 108901043 +PA134924986 267012 HGNC:21191 ENSG00000182346 D-amino acid oxidase activator DAOA G72 transcript G72 Yes Yes Comparative Toxicogenomics Database:267012, Ensembl:ENSG00000182346, GeneCard:DAOA, HGNC:HGNC:21191, NCBI Gene:267012, OMIM:181500, OMIM:607408, RefSeq DNA:NG_012694, RefSeq DNA:NT_009952, RefSeq Protein:NP_001155284, RefSeq Protein:NP_001155286, RefSeq Protein:NP_758958, RefSeq RNA:NM_001161812, RefSeq RNA:NM_001161814, RefSeq RNA:NM_172370, UniProtKB:A2T115, UniProtKB:P59103, UniProtKB:Q8IWM4 No chr13 106118216 106143383 105465867 105491034 +PA165505093 282706 HGNC:30243 ENSG00000232307 DAOA antisense RNA 1 DAOA-AS1 G30 transcript G30 Yes No Ensembl:ENSG00000232307, GeneCard:DAOAAS, HGNC:HGNC:30243, NCBI Gene:282706, OMIM:607415, RefSeq RNA:NR_040247 No chr13 106111404 106158030 105459055 105505681 +PA27140 1611 HGNC:2672 ENSG00000112977 death associated protein DAP death associated protein 1, death-associated protein DAP1 Yes No Comparative Toxicogenomics Database:1611, Ensembl:ENSG00000112977, GenAtlas:DAP, GeneCard:DAP, HGNC:HGNC:2672, HumanCyc Gene:HS03635, NCBI Gene:1611, OMIM:600954, RefSeq DNA:NG_011546, RefSeq DNA:NT_006576, RefSeq Protein:NP_004385, RefSeq RNA:NM_004394, UCSC Genome Browser:NM_004394, UniProtKB:P51397 No chr5 10679342 10761387 10679230 10761275 +PA27141 7818 HGNC:2673 ENSG00000132676 death associated protein 3 DAP3 mitochondrial 28S ribosomal protein S29 DAP-3, DKFZp686G12159, MGC126058, MGC126059, MRP-S29, MRPS29, bMRP-10, mS29 Yes No Comparative Toxicogenomics Database:7818, Ensembl:ENSG00000132676, GenAtlas:DAP3, GeneCard:DAP3, HGNC:HGNC:2673, HumanCyc Gene:HS05673, NCBI Gene:7818, OMIM:602074, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186778, RefSeq Protein:NP_001186779, RefSeq Protein:NP_001186780, RefSeq Protein:NP_004623, RefSeq Protein:NP_387506, RefSeq RNA:NM_001199849, RefSeq RNA:NM_001199850, RefSeq RNA:NM_001199851, RefSeq RNA:NM_004632, RefSeq RNA:NM_033657, UCSC Genome Browser:NM_004632, UniProtKB:P51398 No chr1 155657693 155708801 155688104 155739010 +PA144596442 359804 HGNC:17624 ENSG00000225082 death associated protein 3 pseudogene 1 DAP3P1 mitochondrial ribosomal protein S29 pseudogene 1 MRPS29P1 Yes No Ensembl:ENSG00000225082, GeneCard:DAP3P, HGNC:HGNC:17624, NCBI Gene:359804 No chr1 155568604 155571988 155598813 155602197 +PA27142 1612 HGNC:2674 ENSG00000196730 death associated protein kinase 1 DAPK1 death-associated protein kinase 1 DAPK, ROCO3 Yes Yes Comparative Toxicogenomics Database:1612, Ensembl:ENSG00000196730, GenAtlas:DAPK1, GeneCard:DAPK1, HGNC:HGNC:2674, HumanCyc Gene:HS07488, ModBase:P53355, NCBI Gene:1612, OMIM:600831, RefSeq DNA:NT_008470, RefSeq Protein:NP_004929, RefSeq RNA:NM_004938, UCSC Genome Browser:NM_004938, UniProtKB:P53355, UniProtKB:Q59H88 No chr9 90112601 90323566 87497228 87708634 +PA27143 23604 HGNC:2675 ENSG00000035664 death associated protein kinase 2 DAPK2 death-associated protein kinase 2 DRP-1, MGC119312 Yes No Comparative Toxicogenomics Database:23604, Ensembl:ENSG00000035664, GenAtlas:DAPK2, GeneCard:DAPK2, HGNC:HGNC:2675, HumanCyc Gene:HS00508, ModBase:Q9UIK4, NCBI Gene:23604, RefSeq DNA:NT_010194, RefSeq Protein:NP_055141, RefSeq RNA:NM_014326, UCSC Genome Browser:NM_014326, UniProtKB:Q9UIK4 No chr15 64199235 64363614 63907036 64046470 +PA27144 1613 HGNC:2676 ENSG00000167657 death associated protein kinase 3 DAPK3 death-associated protein kinase 3 ZIP, ZIPK Yes No Comparative Toxicogenomics Database:1613, Ensembl:ENSG00000167657, GenAtlas:DAPK3, GeneCard:DAPK3, HGNC:HGNC:2676, HumanCyc Gene:HS09602, ModBase:O43293, NCBI Gene:1613, OMIM:603289, RefSeq DNA:NT_011255, RefSeq Protein:NP_001339, RefSeq RNA:NM_001348, UCSC Genome Browser:NM_001348, UniProtKB:O43293 No chr19 3958451 3971097 3958453 3971123 +PA134982815 92196 HGNC:21490 ENSG00000163331 death associated protein like 1 DAPL1 death associated protein-like 1 Yes No Ensembl:ENSG00000163331, GeneCard:DAPL1, HGNC:HGNC:21490, NCBI Gene:92196, RefSeq DNA:NT_005403, RefSeq Protein:NP_001017920, RefSeq RNA:NM_001017920, UniProtKB:A0PJW8 No chr2 159651829 159672506 158795317 158815985 +PA27145 27071 HGNC:16500 ENSG00000070190 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides BAM32 Yes No Ensembl:ENSG00000070190, GenAtlas:DAPP1, GeneCard:DAPP1, HGNC:HGNC:16500, HumanCyc Gene:HS00988, ModBase:Q9UN19, NCBI Gene:27071, OMIM:605768, RefSeq DNA:NT_016354, RefSeq Protein:NP_055210, RefSeq RNA:NM_014395, UCSC Genome Browser:NM_014395, UniProtKB:Q9UN19 No chr4 100737957 100791347 99816824 99872290 +PA27146 1615 HGNC:2678 aspartyl-tRNA synthetase 1 DARS1 """aspartate tRNA ligase 1, cytoplasmic"", ""aspartyl-tRNA synthetase""" DARS Yes No Comparative Toxicogenomics Database:1615, GenAtlas:DARS, GeneCard:DARS, HGNC:HGNC:2678, HumanCyc Gene:HS03946, ModBase:P14868, NCBI Gene:1615, OMIM:603084, RefSeq DNA:NT_022135, RefSeq Protein:NP_001340, RefSeq RNA:NM_001349, UCSC Genome Browser:NM_001349, UniProtKB:P14868 No chr2 136664252 136743254 135905881 135986046 +PA142672015 55157 HGNC:25538 ENSG00000117593 aspartyl-tRNA synthetase 2, mitochondrial DARS2 aspartate tRNA ligase 2, mitochondrial FLJ10514, mtAspRS Yes No Comparative Toxicogenomics Database:55157, Ensembl:ENSG00000117593, GeneCard:DARS2, HGNC:HGNC:25538, HumanCyc Gene:HS04153, ModBase:Q6PI48, NCBI Gene:55157, OMIM:610956, OMIM:611105, RefSeq DNA:NG_016138, RefSeq DNA:NT_004487, RefSeq Protein:NP_060592, RefSeq RNA:NM_018122, UniProtKB:Q6PI48, UniProtKB:Q9H9J7 No chr1 173793719 173827682 173824659 173858544 +PA142670602 164781 HGNC:26383 ENSG00000123977 dynein assembly factor with WD repeats 1 DAW1 dynein assembly factor with WDR repeat domains 1, dynein axonemal assembly factor 18, outer row dynein assembly 16 homolog (Chlamydomonas) DNAAF18, FLJ25955, ODA16, WDR69 Yes No Ensembl:ENSG00000123977, GeneCard:WDR69, HGNC:HGNC:26383, ModBase:Q8N136, NCBI Gene:164781, RefSeq DNA:NT_005403, RefSeq Protein:NP_849143, RefSeq RNA:NM_178821, UniProtKB:Q8N136 No chr2 228736325 228789131 227871054 227924347 +PA27148 1616 HGNC:2681 ENSG00000204209, ENSG00000206206, ENSG00000206279, ENSG00000227046, ENSG00000231617 death domain associated protein DAXX death-domain associated protein DAP6 Yes No Comparative Toxicogenomics Database:1616, Ensembl:ENSG00000204209, Ensembl:ENSG00000206206, Ensembl:ENSG00000206279, Ensembl:ENSG00000227046, Ensembl:ENSG00000231617, GenAtlas:DAXX, GeneCard:DAXX, HGNC:HGNC:2681, HumanCyc Gene:HS00219, ModBase:Q9UER7, NCBI Gene:1616, OMIM:603186, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001135441, RefSeq Protein:NP_001135442, RefSeq Protein:NP_001341, RefSeq RNA:NM_001141969, RefSeq RNA:NM_001141970, RefSeq RNA:NM_001350, RefSeq RNA:NR_024517, UCSC Genome Browser:NM_001350, UniProtKB:B4E1C1, UniProtKB:Q53F85, UniProtKB:Q9UER7 No chr6 33286335 33290793 33318558 33323016 +PA27149 1617 HGNC:2682 ENSG00000188120 deleted in azoospermia 1 DAZ1 DAZ, SPGY Yes No Ensembl:ENSG00000188120, GenAtlas:DAZ1, GeneCard:DAZ1, HGNC:HGNC:2682, ModBase:Q9NQZ3, NCBI Gene:1617, OMIM:400003, RefSeq DNA:NG_004755, RefSeq DNA:NG_008286, RefSeq DNA:NT_011903, RefSeq Protein:NP_004072, RefSeq RNA:NM_004081, UCSC Genome Browser:NM_004081, UniProtKB:Q1RMF9, UniProtKB:Q9NQZ3 No chrY 25275502 25345239 23129355 23199117 +PA27150 57055 HGNC:15964 ENSG00000205944 deleted in azoospermia 2 DAZ2 MGC126442, pDP1678 Yes No Ensembl:ENSG00000205944, GenAtlas:DAZ2, GeneCard:DAZ2, HGNC:HGNC:15964, NCBI Gene:57055, OMIM:400026, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_001005785, RefSeq Protein:NP_001005786, RefSeq Protein:NP_065096, RefSeq RNA:NM_001005785, RefSeq RNA:NM_001005786, RefSeq RNA:NM_020363, UCSC Genome Browser:NM_020363, UniProtKB:Q13117 No chrY 25365604 25437503 23219457 23291356 +PA27151 57054 HGNC:15965 ENSG00000187191 deleted in azoospermia 3 DAZ3 Yes No Ensembl:ENSG00000187191, GenAtlas:DAZ3, GeneCard:DAZ3, HGNC:HGNC:15965, ModBase:Q9NR90, NCBI Gene:57054, OMIM:400027, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_065097, RefSeq RNA:NM_020364, UCSC Genome Browser:NM_020364, UniProtKB:Q2KHN7, UniProtKB:Q9NR90 No chrY 26909216 26959639 24763069 24813492 +PA27152 57135 HGNC:15966 ENSG00000205916 deleted in azoospermia 4 DAZ4 Yes No Comparative Toxicogenomics Database:57135, Ensembl:ENSG00000205916, GenAtlas:DAZ4, GeneCard:DAZ4, HGNC:HGNC:15966, ModBase:Q86SG3, NCBI Gene:57135, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_001005375, RefSeq Protein:NP_065153, RefSeq RNA:NM_001005375, RefSeq RNA:NM_020420, UCSC Genome Browser:NM_020420, UniProtKB:Q86SG3 No chrY 26979967 27053187 24833807 24907040 +PA27153 26528 HGNC:2683 ENSG00000071626 DAZ associated protein 1 DAZAP1 deleted in azoospermia associated protein 1 MGC19907 Yes No Comparative Toxicogenomics Database:26528, Ensembl:ENSG00000071626, GenAtlas:DAZAP1, GeneCard:DAZAP1, HGNC:HGNC:2683, HumanCyc Gene:HS01037, ModBase:Q96EP5, NCBI Gene:26528, OMIM:607430, RefSeq DNA:NT_011255, RefSeq Protein:NP_061832, RefSeq Protein:NP_733829, RefSeq RNA:NM_018959, RefSeq RNA:NM_170711, UCSC Genome Browser:NM_018959, UniProtKB:Q96EP5 No chr19 1407584 1435683 1407569 1435687 +PA27154 9802 HGNC:2684 ENSG00000183283 DAZ associated protein 2 DAZAP2 KIAA0058 Yes No Comparative Toxicogenomics Database:9802, Ensembl:ENSG00000183283, GenAtlas:DAZAP2, GeneCard:DAZAP2, HGNC:HGNC:2684, ModBase:Q15038, NCBI Gene:9802, OMIM:607431, RefSeq DNA:NT_029419, RefSeq Protein:NP_001129736, RefSeq Protein:NP_001129738, RefSeq Protein:NP_001129739, RefSeq Protein:NP_001129740, RefSeq Protein:NP_001129741, RefSeq Protein:NP_055579, RefSeq RNA:NM_001136264, RefSeq RNA:NM_001136266, RefSeq RNA:NM_001136267, RefSeq RNA:NM_001136268, RefSeq RNA:NM_001136269, RefSeq RNA:NM_014764, UCSC Genome Browser:NM_014764, UniProtKB:B4DDT5, UniProtKB:B4E1G3, UniProtKB:C9JA96, UniProtKB:C9JP84, UniProtKB:Q15038 No chr12 51632508 51640501 51238724 51246717 +PA27155 1618 HGNC:2685 ENSG00000092345 deleted in azoospermia like DAZL deleted in azoospermia-like DAZH, DAZL1, DAZLA, MGC26406, SPGYLA Yes No Ensembl:ENSG00000092345, GenAtlas:DAZL, GeneCard:DAZL, HGNC:HGNC:2685, HumanCyc Gene:HS01769, ModBase:Q92904, NCBI Gene:1618, OMIM:601486, RefSeq DNA:NG_023329, RefSeq DNA:NT_022517, RefSeq Protein:NP_001177740, RefSeq Protein:NP_001342, RefSeq RNA:NM_001190811, RefSeq RNA:NM_001351, UCSC Genome Browser:NM_001351, UniProtKB:Q92904 No chr3 16628299 16647006 16586792 16605499 +PA142672016 10926 HGNC:17364 ENSG00000006634 DBF4-CDC7 kinase regulatory subunit DBF4 """DBF4 homolog (S. cerevisiae)"", ""DBF4 zinc finger"", ""DBF4 zinc finger A"", ""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""regulatory subunit of DDK"", ""zinc finger, DBF-type containing 1""" ASK, DBF4A, ZDBF1, chif Yes No Comparative Toxicogenomics Database:10926, Ensembl:ENSG00000006634, GeneCard:DBF4, HGNC:HGNC:17364, HumanCyc Gene:HS00187, ModBase:Q9UBU7, NCBI Gene:10926, OMIM:604281, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_006707, RefSeq RNA:NM_006716, UniProtKB:Q9UBU7 No chr7 87505544 87538856 87876229 87909541 +PA143485447 80174 HGNC:17883 ENSG00000161692 DBF4B-CDC7 kinase regulatory subunit DBF4B """DBF4 homolog B (S. cerevisiae)"", ""DBF4 zinc finger B"", ""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B""" ASKL1, DRF1, FLJ13087, ZDBF1B, chifb Yes No Ensembl:ENSG00000161692, GeneCard:DBF4B, HGNC:HGNC:17883, HumanCyc Gene:HS14875, ModBase:Q8NFT6, NCBI Gene:80174, OMIM:611661, RefSeq DNA:NT_010783, RefSeq Protein:NP_079380, RefSeq Protein:NP_663696, RefSeq RNA:NM_025104, RefSeq RNA:NM_145663, RefSeq RNA:NR_036623, UniProtKB:Q8NFT6 No chr17 42785976 42829637 44708581 44752732 +PA136 1621 HGNC:2689 ENSG00000123454 dopamine beta-hydroxylase DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase), dopamine beta-monooxygenase DBM Yes Yes Comparative Toxicogenomics Database:1621, Ensembl:ENSG00000123454, GenAtlas:DBH, GeneCard:DBH, HGNC:HGNC:2689, HumanCyc Gene:HS11700, ModBase:P09172, NCBI Gene:1621, OMIM:168600, OMIM:223360, OMIM:609312, RefSeq DNA:NG_008645, RefSeq DNA:NT_035014, RefSeq Protein:NP_000778, RefSeq RNA:NM_000787, UCSC Genome Browser:NM_000787, UniProtKB:P09172 No chr9 136501485 136524466 133636363 133659344 +PA164723679 138948 HGNC:24155 ENSG00000225756 DBH antisense RNA 1 DBH-AS1 BPR Yes No Ensembl:ENSG00000225756, GeneCard:NCRNA00118, HGNC:HGNC:24155, HumanCyc Gene:HS11707, NCBI Gene:138948, RefSeq DNA:NT_035014, RefSeq RNA:NR_002783, RefSeq RNA:XR_132816 No chr9 136519709 136522530 133654587 133657408 +PA27158 1622 HGNC:2690 ENSG00000155368 diazepam binding inhibitor, acyl-CoA binding protein DBI """diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)"", ""endozepine""" ACBD1, ACBP Yes No Comparative Toxicogenomics Database:1622, Ensembl:ENSG00000155368, GenAtlas:DBI, GeneCard:DBI, HGNC:HGNC:2690, HumanCyc Gene:HS08048, ModBase:P07108, NCBI Gene:1622, OMIM:125950, RefSeq DNA:NT_022135, RefSeq Protein:NP_001073331, RefSeq Protein:NP_001073332, RefSeq Protein:NP_001171488, RefSeq Protein:NP_001171512, RefSeq Protein:NP_001171513, RefSeq Protein:NP_001171514, RefSeq Protein:NP_065438, RefSeq RNA:NM_001079862, RefSeq RNA:NM_001079863, RefSeq RNA:NM_001178017, RefSeq RNA:NM_001178041, RefSeq RNA:NM_001178042, RefSeq RNA:NM_001178043, RefSeq RNA:NM_020548, UCSC Genome Browser:NM_020548, UniProtKB:B8ZWD1, UniProtKB:B8ZWD2, UniProtKB:P07108 No chr2 120124504 120130122 119366924 119372551 +PA27160 1624 HGNC:2692 ENSG00000218748 diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 1 DBIP1 Yes No Ensembl:ENSG00000218748, GenAtlas:DBIL2, GeneCard:DBIP1, HGNC:HGNC:2692, NCBI Gene:1624, RefSeq DNA:NG_001112, RefSeq DNA:NT_007299 No chr6 80146402 80146945 79436685 79437228 +PA27159 1623 HGNC:2691 ENSG00000251366 diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 2 DBIP2 Yes No Ensembl:ENSG00000251366, GenAtlas:DBIL1, GeneCard:DBIP2, HGNC:HGNC:2691, NCBI Gene:1623, RefSeq DNA:NG_003024, RefSeq DNA:NT_006713 No chr5 79898981 79899450 80603162 80603631 +PA27163 1627 HGNC:2695 ENSG00000113758 drebrin 1 DBN1 D0S117E Yes No Comparative Toxicogenomics Database:1627, Ensembl:ENSG00000113758, GenAtlas:DBN1, GeneCard:DBN1, HGNC:HGNC:2695, HumanCyc Gene:HS03717, ModBase:Q16643, NCBI Gene:1627, OMIM:126660, RefSeq DNA:NT_023133, RefSeq Protein:NP_004386, RefSeq Protein:NP_543157, RefSeq RNA:NM_004395, RefSeq RNA:NM_080881, UCSC Genome Browser:NM_004395, UniProtKB:Q16643 No chr5 176883613 176900694 177456612 177480368 +PA144596443 79007 HGNC:28455 ENSG00000003249 dysbindin domain containing 1 DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 FLJ12582, MGC3101 Yes No Ensembl:ENSG00000003249, GeneCard:DBNDD1, HGNC:HGNC:28455, HumanCyc Gene:HS11991, NCBI Gene:79007, RefSeq DNA:NT_010542, RefSeq Protein:NP_001036075, RefSeq Protein:NP_076948, RefSeq RNA:NM_001042610, RefSeq RNA:NM_024043, UniProtKB:Q9H9R9 No chr16 90071279 90085937 90004865 90020131 +PA25749 55861 HGNC:15881 ENSG00000244274 dysbindin domain containing 2 DBNDD2 dysbindin (dystrobrevin binding protein 1) domain containing 2 C20orf35, HSMNP1 Yes No Comparative Toxicogenomics Database:55861, Ensembl:ENSG00000244274, GenAtlas:DBNDD2, GeneCard:DBNDD2, HGNC:HGNC:15881, NCBI Gene:55861, OMIM:611453, RefSeq DNA:NT_011362, RefSeq Protein:NP_001041686, RefSeq Protein:NP_001041687, RefSeq Protein:NP_001041688, RefSeq Protein:NP_001041689, RefSeq Protein:NP_001041690, RefSeq Protein:NP_001041691, RefSeq Protein:NP_001184068, RefSeq Protein:NP_001184069, RefSeq Protein:NP_060948, RefSeq RNA:NM_001048221, RefSeq RNA:NM_001048222, RefSeq RNA:NM_001048223, RefSeq RNA:NM_001048224, RefSeq RNA:NM_001048225, RefSeq RNA:NM_001048226, RefSeq RNA:NM_001197139, RefSeq RNA:NM_001197140, RefSeq RNA:NM_018478, UCSC Genome Browser:NM_018478, UniProtKB:Q5QPV4, UniProtKB:Q9BQY9 No chr20 44034633 44039250 45405993 45410610 +PA27164 28988 HGNC:2696 ENSG00000136279 drebrin like DBNL HPK1-interacting protein of 55 kDa, actin-binding protein 1, drebrin-like ABP1, HIP-55, SH3P7 Yes No Comparative Toxicogenomics Database:28988, Ensembl:ENSG00000136279, GenAtlas:DBNL, GeneCard:DBNL, HGNC:HGNC:2696, HumanCyc Gene:HS06145, ModBase:Q9UJU6, NCBI Gene:28988, OMIM:610106, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001014436, RefSeq Protein:NP_001116428, RefSeq Protein:NP_054782, RefSeq RNA:NM_001014436, RefSeq RNA:NM_001122956, RefSeq RNA:NM_014063, UniProtKB:Q9UJU6 No chr7 44084239 44101315 44044640 44061716 +PA27165 1628 HGNC:2697 ENSG00000105516 D-box binding PAR bZIP transcription factor DBP D site of albumin promoter (albumin D-box) binding protein DABP Yes No Comparative Toxicogenomics Database:1628, Ensembl:ENSG00000105516, GenAtlas:DBP, GeneCard:DBP, HGNC:HGNC:2697, HumanCyc Gene:HS02755, ModBase:Q10586, NCBI Gene:1628, OMIM:124097, RefSeq DNA:NT_011109, RefSeq Protein:NP_001343, RefSeq RNA:NM_001352, UCSC Genome Browser:NM_001352, UniProtKB:Q10586 No chr19 49133817 49140639 48630560 48637550 +PA27166 51163 HGNC:15594 ENSG00000138231 debranching RNA lariats 1 DBR1 Yes No Ensembl:ENSG00000138231, GenAtlas:DBR1, GeneCard:DBR1, HGNC:HGNC:15594, HumanCyc Gene:HS06475, ModBase:Q9UK59, NCBI Gene:51163, OMIM:607024, RefSeq DNA:NT_005612, RefSeq Protein:NP_057300, RefSeq RNA:NM_016216, UCSC Genome Browser:NM_016216, UniProtKB:Q9UK59 No chr3 137879830 137893791 138160988 138174949 +PA27167 1629 HGNC:2698 ENSG00000137992 dihydrolipoamide branched chain transacylase E2 DBT """branched chain 2-oxo-acid dehydrogenase complex component E2"", ""dihydrolipoyllysine-residue (2-methylpropanoyl)transferase"", ""lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial""" BCKAD-E2, BCKDH-E2, BCOADC-E2 Yes No Comparative Toxicogenomics Database:1629, Ensembl:ENSG00000137992, GenAtlas:DBT, GeneCard:DBT, HGNC:HGNC:2698, HumanCyc Gene:HS06432, ModBase:P11182, NCBI Gene:1629, OMIM:248600, OMIM:248610, RefSeq DNA:NG_011852, RefSeq DNA:NT_032977, RefSeq Protein:NP_001909, RefSeq RNA:NM_001918, UCSC Genome Browser:NM_001918, UniProtKB:P11182 No chr1 100652478 100715409 100186922 100249864 +PA162383238 120237 HGNC:33185 ENSG00000109851 developing brain homeobox 1 DBX1 Yes No Ensembl:ENSG00000109851, GeneCard:DBX1, HGNC:HGNC:33185, ModBase:A6NMT0, NCBI Gene:120237, RefSeq DNA:NT_009237, RefSeq Protein:NP_001025036, RefSeq RNA:NM_001029865 No chr11 20177760 20181870 20156214 20160324 +PA162383249 440097 HGNC:33186 ENSG00000185610 developing brain homeobox 2 DBX2 FLJ16139 Yes No Ensembl:ENSG00000185610, GeneCard:DBX2, HGNC:HGNC:33186, ModBase:Q6ZNG2, NCBI Gene:440097, RefSeq DNA:NT_029419, RefSeq Protein:NP_001004329, RefSeq RNA:NM_001004329, UniProtKB:Q6ZNG2 No chr12 45408539 45444882 45014756 45051099 +PA142670621 9730 HGNC:30911 ENSG00000145041 DDB1 and CUL4 associated factor 1 DCAF1 DDB1 and CUL4 associated factor 1, Vpr (HIV-1) binding protein DCAF1, KIAA0800, MGC102804, VPRBP Yes No Comparative Toxicogenomics Database:9730, Ensembl:ENSG00000145041, GeneCard:VPRBP, HGNC:HGNC:30911, HumanCyc Gene:HS14071, ModBase:Q9Y4B6, NCBI Gene:9730, RefSeq DNA:NT_022517, RefSeq Protein:NP_001165375, RefSeq Protein:NP_055518, RefSeq RNA:NM_001171904, RefSeq RNA:NM_014703, UniProtKB:Q9Y4B6 No chr3 51433298 51534018 51395867 51505620 +PA165585713 79269 HGNC:23686 ENSG00000122741 DDB1 and CUL4 associated factor 10 DCAF10 FLJ23201, MGC10765, WDR32 Yes No Ensembl:ENSG00000122741, GeneCard:DCAF10, HGNC:HGNC:23686, HumanCyc Gene:HS13069, ModBase:Q5QP82, NCBI Gene:79269, RefSeq DNA:NT_008413, RefSeq Protein:NP_077321, RefSeq RNA:NM_024345, UniProtKB:Q5QP82 No chr9 37800551 37867666 37800554 37867669 +PA165478701 80344 HGNC:20258 ENSG00000100897 DDB1 and CUL4 associated factor 11 DCAF11 GL014, PRO2389, WDR23 Yes No Comparative Toxicogenomics Database:80344, Ensembl:ENSG00000100897, GeneCard:DCAF11, HGNC:HGNC:20258, HumanCyc Gene:HS12430, ModBase:Q9H5C9, NCBI Gene:80344, OMIM:613317, RefSeq DNA:NT_026437, RefSeq Protein:NP_001156956, RefSeq Protein:NP_079506, RefSeq Protein:NP_852002, RefSeq RNA:NM_001163484, RefSeq RNA:NM_025230, RefSeq RNA:NM_181357, RefSeq RNA:NR_028099, RefSeq RNA:NR_028100, UniProtKB:B3KSW2, UniProtKB:Q59GN6, UniProtKB:Q8TEB1 No chr14 24583906 24594451 24114697 24125242 +PA165585735 25853 HGNC:19911 ENSG00000198876 DDB1 and CUL4 associated factor 12 DCAF12 cancer/testis antigen 102 CT102, DKFZP434O125, KIAA1892, MGC1058, TCC52, WDR40A Yes No Comparative Toxicogenomics Database:25853, Ensembl:ENSG00000198876, GeneCard:DCAF12, HGNC:HGNC:19911, ModBase:Q9UFJ1, NCBI Gene:25853, RefSeq DNA:NT_008413, RefSeq Protein:NP_056212, RefSeq RNA:NM_015397, UniProtKB:Q5T6F0 No chr9 34086381 34126771 34086383 34126773 +PA165756488 139170 HGNC:29395 ENSG00000198889 DDB1 and CUL4 associated factor 12 like 1 DCAF12L1 DDB1 and CUL4 associated factor 12-like 1 KIAA1892L, WDR40B Yes No Ensembl:ENSG00000198889, GeneCard:DCAF12L1, HGNC:HGNC:29395, ModBase:Q5VU92, NCBI Gene:139170, RefSeq DNA:NG_012689, RefSeq DNA:NT_011786, RefSeq Protein:NP_848565, RefSeq RNA:NM_178470, UniProtKB:Q5VU92 No chrX 125683366 125686842 126549383 126552859 +PA165756531 340578 HGNC:32950 ENSG00000198354 DDB1 and CUL4 associated factor 12 like 2 DCAF12L2 DDB1 and CUL4 associated factor 12-like 2 WDR40C Yes No Comparative Toxicogenomics Database:340578, Ensembl:ENSG00000198354, GeneCard:DCAF12L2, HGNC:HGNC:32950, ModBase:Q5VW00, NCBI Gene:340578, RefSeq DNA:NG_021265, RefSeq DNA:NT_011786, RefSeq Protein:NP_001013650, RefSeq RNA:NM_001013628, UniProtKB:Q5VW00 No chrX 125297482 125300080 126163499 126166097 +PA165585440 25879 HGNC:24535 ENSG00000164934 DDB1 and CUL4 associated factor 13 DCAF13 DKFZP564O0463, Gm83, HSPC064, Sof1, WDSOF1 Yes No Ensembl:ENSG00000164934, GeneCard:DCAF13, HGNC:HGNC:24535, HumanCyc Gene:HS15258, NCBI Gene:25879, RefSeq DNA:NT_008046, RefSeq Protein:NP_056235, RefSeq RNA:NM_015420, UniProtKB:A6NNZ9, UniProtKB:Q9NV06 No chr8 104426942 104455681 103414714 103443453 +PA165393390 90379 HGNC:25095 ENSG00000132017 DDB1 and CUL4 associated factor 15 DCAF15 C19orf72, MGC99481 Yes No Ensembl:ENSG00000132017, GeneCard:DCAF15, HGNC:HGNC:25095, HumanCyc Gene:HS13412, NCBI Gene:90379, RefSeq DNA:NT_011295, RefSeq Protein:NP_612362, RefSeq RNA:NM_138353, UniProtKB:Q66K64 No chr19 14063319 14072256 13952507 13961444 +PA165663579 54876 HGNC:25987 ENSG00000163257 DDB1 and CUL4 associated factor 16 DCAF16 C4orf30, FLJ20280 Yes No Ensembl:ENSG00000163257, GeneCard:DCAF16, HGNC:HGNC:25987, HumanCyc Gene:HS15041, ModBase:Q9NXF7, NCBI Gene:54876, RefSeq DNA:NT_006316, RefSeq Protein:NP_060211, RefSeq RNA:NM_017741, UniProtKB:Q9NXF7 No chr4 17802278 17812386 17798236 17810761 +PA165696520 80067 HGNC:25784 ENSG00000115827 DDB1 and CUL4 associated factor 17 DCAF17 Woodhouse-Sakati syndrome C2orf37, FLJ13096 Yes No Ensembl:ENSG00000115827, GeneCard:DCAF17, HGNC:HGNC:25784, HumanCyc Gene:HS12854, ModBase:Q5H9S7, NCBI Gene:80067, OMIM:241080, OMIM:612515, RefSeq DNA:NG_013038, RefSeq DNA:NT_005403, RefSeq Protein:NP_001158293, RefSeq Protein:NP_079276, RefSeq RNA:NM_001164821, RefSeq RNA:NM_025000, RefSeq RNA:NR_028482, UniProtKB:Q5H9S7 No chr2 172290761 172341562 171434166 171491029 +PA165478762 26094 HGNC:20229 ENSG00000119599 DDB1 and CUL4 associated factor 4 DCAF4 DKFZp434K114, WDR21, WDR21A Yes Yes Ensembl:ENSG00000119599, GeneCard:DCAF4, HGNC:HGNC:20229, HumanCyc Gene:HS12943, ModBase:Q8WV16, NCBI Gene:26094, RefSeq DNA:NT_026437, RefSeq Protein:NP_001156980, RefSeq Protein:NP_001156981, RefSeq Protein:NP_056419, RefSeq Protein:NP_851937, RefSeq Protein:NP_851938, RefSeq RNA:NM_001163508, RefSeq RNA:NM_001163509, RefSeq RNA:NM_015604, RefSeq RNA:NM_181340, RefSeq RNA:NM_181341, UniProtKB:B2RDD6, UniProtKB:B4DUT6, UniProtKB:Q8IV10, UniProtKB:Q8WV16 No chr14 73393040 73428825 72926332 72962098 +PA165663611 285429 HGNC:27723 ENSG00000182308 DDB1 and CUL4 associated factor 4 like 1 DCAF4L1 DDB1 and CUL4 associated factor 4-like 1 WDR21B Yes No Ensembl:ENSG00000182308, GeneCard:DCAF4L1, HGNC:HGNC:27723, ModBase:Q3SXM0, NCBI Gene:285429, RefSeq DNA:NT_006238, RefSeq Protein:NP_001025126, RefSeq RNA:NM_001029955, UniProtKB:Q3SXM0 No chr4 41983713 41988484 41981696 41986467 +PA165585467 138009 HGNC:26657 ENSG00000176566 DDB1 and CUL4 associated factor 4 like 2 DCAF4L2 DDB1 and CUL4 associated factor 4-like 2 WDR21C Yes No Ensembl:ENSG00000176566, GeneCard:DCAF4L2, HGNC:HGNC:26657, HumanCyc Gene:HS16687, ModBase:Q8NA75, NCBI Gene:138009, RefSeq DNA:NT_008046, RefSeq Protein:NP_689631, RefSeq RNA:NM_152418, UniProtKB:Q8NA75 No chr8 88882971 88886296 87870743 87874068 +PA165478844 8816 HGNC:20224 ENSG00000139990 DDB1 and CUL4 associated factor 5 DCAF5 BCRG2, BCRP2, D14S1461E, KIAA1824, WDR22 Yes No Comparative Toxicogenomics Database:8816, Ensembl:ENSG00000139990, GeneCard:DCAF5, HGNC:HGNC:20224, HumanCyc Gene:HS06674, ModBase:Q96JK2, NCBI Gene:8816, OMIM:603812, RefSeq DNA:NT_026437, RefSeq Protein:NP_003852, RefSeq RNA:NM_003861, UniProtKB:Q96JK2 No chr14 69517637 69619914 69050920 69153393 +PA165751150 55827 HGNC:30002 ENSG00000143164 DDB1 and CUL4 associated factor 6 DCAF6 IQWD1, PC326 Yes No Ensembl:ENSG00000143164, GeneCard:DCAF6, HGNC:HGNC:30002, HumanCyc Gene:HS06999, ModBase:Q58WW2, NCBI Gene:55827, OMIM:610494, RefSeq DNA:NT_004487, RefSeq Protein:NP_001017977, RefSeq Protein:NP_001185885, RefSeq Protein:NP_001185886, RefSeq Protein:NP_060912, RefSeq RNA:NM_001017977, RefSeq RNA:NM_001198956, RefSeq RNA:NM_001198957, RefSeq RNA:NM_018442, UniProtKB:Q58WW2 No chr1 167905797 168045081 167936247 168075843 +PA165431770 10238 HGNC:30915 ENSG00000136485 DDB1 and CUL4 associated factor 7 DCAF7 human anthocyanin, seven-WD-repeat protein of the AN11 family-1 HAN11, SWAN-1, WDR68 Yes No Comparative Toxicogenomics Database:10238, Ensembl:ENSG00000136485, GeneCard:DCAF7, HGNC:HGNC:30915, HumanCyc Gene:HS06167, ModBase:P61962, NCBI Gene:10238, OMIM:605973, RefSeq DNA:NT_010783, RefSeq Protein:NP_005819, RefSeq RNA:NM_005828, UniProtKB:P61962 No chr17 61627796 61671641 63550435 63594279 +PA165751195 50717 HGNC:24891 ENSG00000132716 DDB1 and CUL4 associated factor 8 DCAF8 FLJ35857, H326, WDR42A Yes No Comparative Toxicogenomics Database:50717, Ensembl:ENSG00000132716, GeneCard:DCAF8, HGNC:HGNC:24891, HumanCyc Gene:HS13440, ModBase:Q5TAQ9, NCBI Gene:50717, RefSeq DNA:NT_004487, RefSeq Protein:NP_056541, RefSeq RNA:NM_015726, RefSeq RNA:NR_028103, RefSeq RNA:NR_028104, RefSeq RNA:NR_028105, RefSeq RNA:NR_028106, UniProtKB:B7Z8C9, UniProtKB:Q5TAQ9 No chr1 160185505 160232350 160215715 160262560 +PA165756552 139425 HGNC:31810 ENSG00000226372 DDB1 and CUL4 associated factor 8 like 1 DCAF8L1 DDB1 and CUL4 associated factor 8-like 1 WDR42B Yes No Ensembl:ENSG00000226372, GeneCard:DCAF8L1, HGNC:HGNC:31810, ModBase:A6NGE4, NCBI Gene:139425, RefSeq DNA:NG_021357, RefSeq DNA:NT_011757, RefSeq DNA:NT_167197, RefSeq Protein:NP_001017930, RefSeq RNA:NM_001017930, UniProtKB:A6NGE4 No chrX 27996110 27999566 27977993 27981449 +PA165756563 347442 HGNC:31811 ENSG00000189186 DDB1 and CUL4 associated factor 8 like 2 DCAF8L2 DDB1 and CUL4 associated factor 8-like 2 WDR42C Yes No Ensembl:ENSG00000189186, GeneCard:DCAF8L2, HGNC:HGNC:31811, NCBI Gene:347442, RefSeq DNA:NT_011757, RefSeq DNA:NT_167197, RefSeq Protein:NP_001130005, RefSeq Protein:XP_001715246, RefSeq Protein:XP_293354, RefSeq Protein:XP_947717, RefSeq RNA:NM_001136533, RefSeq RNA:XM_001715194, RefSeq RNA:XM_293354, RefSeq RNA:XM_942624 No chrX 27734205 27768050 27746809 27748821 +PA142672013 79877 HGNC:26238 ENSG00000172992 dephospho-CoA kinase domain containing DCAKD FLJ22955 Yes No Comparative Toxicogenomics Database:79877, Ensembl:ENSG00000172992, GeneCard:DCAKD, HGNC:HGNC:26238, HumanCyc Gene:HS10604, ModBase:Q8WVC6, NCBI Gene:79877, RefSeq DNA:NT_010783, RefSeq Protein:NP_001122103, RefSeq Protein:NP_079095, RefSeq RNA:NM_001128631, RefSeq RNA:NM_024819, UniProtKB:Q8WVC6 No chr17 43100706 43138473 45023338 45061129 +PA142672373 140947 HGNC:24459 ENSG00000251380 dendritic cell associated nuclear protein 1 DCANP1 chromosome 5 open reading frame 20, dendritic cell associated nuclear protein, dendritic cell nuclear protein 1, dendritic cell-associated nuclear protein C5orf20, DCNP1 Yes No Ensembl:ENSG00000251380, GeneCard:C5orf20, HGNC:HGNC:24459, ModBase:Q8TF63, NCBI Gene:140947, OMIM:609710, RefSeq DNA:NT_034772, RefSeq Protein:NP_570900, RefSeq RNA:NM_130848, UniProtKB:Q8TF63 No chr5 134779904 134783038 135444214 135447348 +PA134903108 285761 HGNC:21479 ENSG00000164465 discoidin, CUB and LCCL domain containing 1 DCBLD1 MGC46341, dJ94G16.1 Yes Yes Comparative Toxicogenomics Database:285761, Ensembl:ENSG00000164465, GeneCard:DCBLD1, HGNC:HGNC:21479, HumanCyc Gene:HS09085, ModBase:Q8N8Z6, NCBI Gene:285761, RefSeq DNA:NT_025741, RefSeq Protein:NP_775945, RefSeq RNA:NM_173674, UniProtKB:Q8N8Z6 No chr6 117803803 117891021 117480346 117569858 +PA134869307 131566 HGNC:24627 ENSG00000057019 discoidin, CUB and LCCL domain containing 2 DCBLD2 CLCP1, ESDN Yes No Comparative Toxicogenomics Database:131566, Ensembl:ENSG00000057019, GeneCard:DCBLD2, HGNC:HGNC:24627, HumanCyc Gene:HS00704, ModBase:Q96PD2, NCBI Gene:131566, OMIM:608698, RefSeq DNA:NT_005612, RefSeq Protein:NP_563615, RefSeq RNA:NM_080927, UniProtKB:Q96PD2 No chr3 98514814 98620566 98795970 98901689 +PA27170 1630 HGNC:2701 ENSG00000187323 DCC netrin 1 receptor DCC """deleted in colorectal carcinoma"", ""immunoglobulin superfamily, DCC subclass, member 1""" IGDCC1, NTN1R1 Yes No Comparative Toxicogenomics Database:1630, Ensembl:ENSG00000187323, GenAtlas:DCC, GeneCard:DCC, HGNC:HGNC:2701, HumanCyc Gene:HS10457, ModBase:P43146, NCBI Gene:1630, OMIM:120470, OMIM:157600, RefSeq DNA:NG_013341, RefSeq DNA:NT_010966, RefSeq Protein:NP_005206, RefSeq RNA:NM_005215, UCSC Genome Browser:NM_005215, UniProtKB:P43146, UniProtKB:Q49AK4 No chr18 49866542 51062273 52340172 53535903 +PA27171 117159 HGNC:14669 ENSG00000161634 dermcidin DCD diffusible survival/evasion peptide, preproteolysin, proteolysis inducing factor, survival promoting peptide AIDD, DCD-1, DSEP, HCAP, PIF Yes No Comparative Toxicogenomics Database:117159, Ensembl:ENSG00000161634, GenAtlas:DCD, GeneCard:DCD, HGNC:HGNC:14669, HumanCyc Gene:HS08600, NCBI Gene:117159, OMIM:606634, RefSeq DNA:NT_029419, RefSeq Protein:NP_444513, RefSeq RNA:NM_053283, UCSC Genome Browser:NM_053283, UniProtKB:P81605, UniProtKB:Q53YJ2 No chr12 55038375 55042277 54644591 54648493 +PA134970075 341019 HGNC:20625 ENSG00000170959 doublecortin domain containing 1 DCDC1 DCDC5, FLJ46154 Yes No Ensembl:ENSG00000170959, GeneCard:DCDC1, HGNC:HGNC:20625, ModBase:P59894, NCBI Gene:341019, OMIM:608062, RefSeq DNA:NT_009237, RefSeq Protein:NP_861523, RefSeq RNA:NM_181807, UniProtKB:P59894 No chr11 31284171 31391357 31262624 31369810 +PA134978716 51473 HGNC:18141 ENSG00000146038 doublecortin domain containing 2 DCDC2 nephronophthisis 19 DCDC2A, DFNB66, KIAA1154, NPHP19, RU2 Yes No Comparative Toxicogenomics Database:51473, Ensembl:ENSG00000146038, GeneCard:DCDC2, HGNC:HGNC:18141, HumanCyc Gene:HS07315, ModBase:Q9UHG0, NCBI Gene:51473, OMIM:600202, OMIM:605755, RefSeq DNA:NG_012829, RefSeq DNA:NT_007592, RefSeq Protein:NP_001182539, RefSeq Protein:NP_057440, RefSeq RNA:NM_001195610, RefSeq RNA:NM_016356, UniProtKB:Q9UHG0 No chr6 24171983 24383520 24171755 24383292 +PA145008541 149069 HGNC:32576 ENSG00000222046 doublecortin domain containing 2B DCDC2B Yes No Ensembl:ENSG00000222046, GeneCard:DCDC2B, HGNC:HGNC:32576, ModBase:A2VCK2, NCBI Gene:149069, RefSeq DNA:NT_032977, RefSeq Protein:NP_001092904, RefSeq RNA:NM_001099434, UniProtKB:A2VCK2 No chr1 32674695 32681797 32208813 32216196 +PA145008542 728597 HGNC:32696 ENSG00000214866 doublecortin domain containing 2C DCDC2C Yes No Ensembl:ENSG00000214866, GeneCard:DCDC2C, HGNC:HGNC:32696, NCBI Gene:728597 No chr2 3751188 3895001 3703592 3847411 +PA33000 8642 HGNC:13681 ENSG00000166341 dachsous cadherin-related 1 DCHS1 cadherin-related family member 6, dachsous 1 (Drosophila) CDH25, CDHR6, FIB1, FLJ11790, KIAA1773, PCDH16 Yes No Comparative Toxicogenomics Database:8642, Ensembl:ENSG00000166341, GenAtlas:DCHS1, GeneCard:DCHS1, HGNC:HGNC:13681, HumanCyc Gene:HS09380, ModBase:Q96JQ0, NCBI Gene:8642, OMIM:603057, RefSeq DNA:NT_009237, RefSeq Protein:NP_003728, RefSeq RNA:NM_003737, UCSC Genome Browser:NM_003737, UniProtKB:Q96JQ0 No chr11 6642556 6685320 6621324 6655849 +PA134953793 54798 HGNC:23111 ENSG00000197410 dachsous cadherin-related 2 DCHS2 cadherin-related family member 7, dachsous 2 (Drosophila) CDH27, CDHJ, CDHR7, FLJ20047, PCDH23, PCDHJ Yes No Ensembl:ENSG00000197410, GeneCard:DCHS2, HGNC:HGNC:23111, ModBase:Q6V1P9, NCBI Gene:54798, OMIM:612486, RefSeq DNA:NT_016354, RefSeq Protein:NP_001136024, RefSeq Protein:NP_001136025, RefSeq Protein:NP_060109, RefSeq RNA:NM_001142552, RefSeq RNA:NM_001142553, RefSeq RNA:NM_017639, UniProtKB:B2RU14, UniProtKB:Q6V1P8, UniProtKB:Q6V1P9 No chr4 155155527 155412930 154234375 154491778 +PA137 1633 HGNC:2704 ENSG00000156136 deoxycytidine kinase DCK Yes Yes Comparative Toxicogenomics Database:1633, Ensembl:ENSG00000156136, GenAtlas:DCK, GeneCard:DCK, HGNC:HGNC:2704, HumanCyc Gene:HS08100, ModBase:P27707, NCBI Gene:1633, OMIM:125450, RefSeq DNA:NG_023303, RefSeq DNA:NT_022778, RefSeq Protein:NP_000779, RefSeq RNA:NM_000788, UCSC Genome Browser:NM_000788, UniProtKB:P27707 No chr4 71859265 71896631 70993548 71030914 +PA162383325 9201 HGNC:2700 ENSG00000133083 doublecortin like kinase 1 DCLK1 doublecortin-like kinase 1 DCAMKL1, DCDC3A, DCLK, KIAA0369 Yes No Ensembl:ENSG00000133083, GeneCard:DCLK1, HGNC:HGNC:2700, HumanCyc Gene:HS05730, ModBase:O15075, NCBI Gene:9201, OMIM:604742, RefSeq DNA:NT_024524, RefSeq Protein:NP_001182344, RefSeq Protein:NP_001182345, RefSeq Protein:NP_001182359, RefSeq Protein:NP_004725, RefSeq RNA:NM_001195415, RefSeq RNA:NM_001195416, RefSeq RNA:NM_001195430, RefSeq RNA:NM_004734, UniProtKB:O15075 No chr13 36342789 36705514 35768652 36132020 +PA162383366 166614 HGNC:19002 ENSG00000170390 doublecortin like kinase 2 DCLK2 doublecortin-like kinase 2 DCAMKL2, DCDC3, DCDC3B, DCK2, MGC45428 Yes No Ensembl:ENSG00000170390, GeneCard:DCLK2, HGNC:HGNC:19002, HumanCyc Gene:HS10121, ModBase:Q8N568, NCBI Gene:166614, OMIM:613166, RefSeq DNA:NT_016354, RefSeq Protein:NP_001035350, RefSeq Protein:NP_001035351, RefSeq RNA:NM_001040260, RefSeq RNA:NM_001040261, RefSeq RNA:NR_036614, UniProtKB:Q8N568 No chr4 150999426 151178609 150078274 150258563 +PA162383403 85443 HGNC:19005 ENSG00000163673 doublecortin like kinase 3 DCLK3 doublecortin-like kinase 3 DCAMKL3, DCDC3C, KIAA1765 Yes No Ensembl:ENSG00000163673, GeneCard:DCLK3, HGNC:HGNC:19005, ModBase:Q9C098, NCBI Gene:85443, OMIM:613167, RefSeq DNA:NT_022517, RefSeq Protein:NP_208382, RefSeq RNA:NM_033403, UniProtKB:B3KVM3, UniProtKB:Q9C098 No chr3 36753913 36781352 36712422 36764206 +PA27174 9937 HGNC:17660 ENSG00000198924 DNA cross-link repair 1A DCLRE1A PSO2 homolog (S. cerevisiae) KIAA0086, PSO2, SNM1, hSNM1 Yes No Comparative Toxicogenomics Database:9937, Ensembl:ENSG00000198924, GenAtlas:DCLRE1A, GeneCard:DCLRE1A, HGNC:HGNC:17660, ModBase:Q6PJP8, NCBI Gene:9937, OMIM:609682, RefSeq DNA:NT_030059, RefSeq Protein:NP_055696, RefSeq RNA:NM_014881, UCSC Genome Browser:NM_014881, UniProtKB:Q6PJP8 No chr10 115594483 115614163 113834724 113854404 +PA27175 64858 HGNC:17641 ENSG00000118655 DNA cross-link repair 1B DCLRE1B PSO2 homolog (S. cerevisiae) APOLLO, FLJ12810, FLJ13998, SNM1B Yes No Ensembl:ENSG00000118655, GenAtlas:DCLRE1B, GeneCard:DCLRE1B, HGNC:HGNC:17641, HumanCyc Gene:HS12922, ModBase:Q9H816, NCBI Gene:64858, OMIM:609683, RefSeq DNA:NT_032977, RefSeq Protein:NP_073747, RefSeq RNA:NM_022836, UCSC Genome Browser:NM_022836, UniProtKB:Q9H816 No chr1 114447915 114456708 113904619 113914086 +PA27176 64421 HGNC:17642 ENSG00000152457 DNA cross-link repair 1C DCLRE1C PSO2 homolog (S. cerevisiae) A-SCID, ARTEMIS, FLJ11360, SCIDA, SNM1C Yes No Comparative Toxicogenomics Database:64421, Ensembl:ENSG00000152457, GenAtlas:DCLRE1C, GeneCard:DCLRE1C, HGNC:HGNC:17642, HumanCyc Gene:HS14431, ModBase:Q6PK14, NCBI Gene:64421, OMIM:602450, OMIM:603554, OMIM:605988, RefSeq DNA:NG_007276, RefSeq DNA:NT_008705, RefSeq Protein:NP_001029027, RefSeq Protein:NP_001029029, RefSeq Protein:NP_001029030, RefSeq Protein:NP_071932, RefSeq RNA:NM_001033855, RefSeq RNA:NM_001033857, RefSeq RNA:NM_001033858, RefSeq RNA:NM_022487, UCSC Genome Browser:NM_022487, UniProtKB:B3KMX5, UniProtKB:Q96SD1 No chr10 14948870 14996106 14897853 14954432 +PA27177 1634 HGNC:2705 ENSG00000011465 decorin DCN decorin proteoglycan DSPG2, SLRR1B Yes No Comparative Toxicogenomics Database:1634, Ensembl:ENSG00000011465, GenAtlas:DCN, GeneCard:DCN, HGNC:HGNC:2705, HumanCyc Gene:HS00319, ModBase:P07585, NCBI Gene:1634, OMIM:125255, OMIM:610048, RefSeq DNA:NG_011672, RefSeq DNA:NT_029419, RefSeq Protein:NP_001911, RefSeq Protein:NP_598010, RefSeq Protein:NP_598011, RefSeq Protein:NP_598012, RefSeq Protein:NP_598013, RefSeq Protein:NP_598014, RefSeq RNA:NM_001920, RefSeq RNA:NM_133503, RefSeq RNA:NM_133504, RefSeq RNA:NM_133505, RefSeq RNA:NM_133506, RefSeq RNA:NM_133507, UCSC Genome Browser:NM_001920, UniProtKB:P07585, UniProtKB:Q6FH10 No chr12 91539035 91576806 91143277 91183124 +PA134931379 55802 HGNC:18714 ENSG00000272886 decapping mRNA 1A DCP1A DCP1 decapping enzyme homolog A (S. cerevisiae) HSA275986, SMAD4IP1, SMIF Yes No Comparative Toxicogenomics Database:55802, Ensembl:ENSG00000272886, GeneCard:DCP1A, HGNC:HGNC:18714, HumanCyc Gene:HS14904, ModBase:Q9NPI6, NCBI Gene:55802, OMIM:607010, RefSeq DNA:NT_022517, RefSeq Protein:NP_060873, RefSeq RNA:NM_018403, UniProtKB:Q9NPI6 No chr3 53317443 53381654 53283423 53347627 +PA134889143 196513 HGNC:24451 ENSG00000151065 decapping mRNA 1B DCP1B DCP1 decapping enzyme homolog B (S. cerevisiae) FLJ31638 Yes Yes Ensembl:ENSG00000151065, GeneCard:DCP1B, HGNC:HGNC:24451, HumanCyc Gene:HS14351, ModBase:Q8IZD4, NCBI Gene:196513, OMIM:609843, RefSeq DNA:NT_009759, RefSeq Protein:NP_689853, RefSeq RNA:NM_152640, UniProtKB:Q8IZD4 No chr12 2055214 2113677 1941591 2004535 +PA134898646 167227 HGNC:24452 ENSG00000172795 decapping mRNA 2 DCP2 DCP2 decapping enzyme homolog (S. cerevisiae), M(7)GpppN-mRNA hydrolase, nudix (nucleoside diphosphate linked moiety X)-type motif 20 NUDT20 Yes No Comparative Toxicogenomics Database:167227, Ensembl:ENSG00000172795, GeneCard:DCP2, HGNC:HGNC:24452, HumanCyc Gene:HS14106, ModBase:Q8IU60, NCBI Gene:167227, OMIM:609844, RefSeq DNA:NT_034772, RefSeq Protein:NP_001229306, RefSeq Protein:NP_689837, RefSeq RNA:NM_001242377, RefSeq RNA:NM_152624, RefSeq RNA:NR_038352, UniProtKB:Q8IU60 No chr5 112312399 112357892 112976702 113022195 +PA134863866 28960 HGNC:29812 ENSG00000110063 decapping enzyme, scavenger DCPS 5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase, histidine triad nucleotide binding protein 5, m7GpppX diphosphatase DCS-1, DCS1, HINT-5, HINT5, HSL1, HSPC015 Yes No Comparative Toxicogenomics Database:28960, Ensembl:ENSG00000110063, GeneCard:DCPS, HGNC:HGNC:29812, HumanCyc Gene:HS12711, ModBase:Q96C86, NCBI Gene:28960, OMIM:610534, RefSeq DNA:NT_033899, RefSeq Protein:NP_054745, RefSeq RNA:NM_014026, UniProtKB:Q96C86 No chr11 126173647 126215644 126303301 126345754 +PA27178 1637 HGNC:2708 Down syndrome chromosome region DCR DSCR Yes No Comparative Toxicogenomics Database:1637, GenAtlas:DCR, GeneCard:DCR, HGNC:HGNC:2708, NCBI Gene:1637, OMIM:190685 No chr21 +PA142672005 149095 HGNC:26539 ENSG00000163357 DC-STAMP domain containing 1 DCST1 FLJ32785 Yes No Ensembl:ENSG00000163357, GeneCard:DCST1, HGNC:HGNC:26539, HumanCyc Gene:HS15049, NCBI Gene:149095, RefSeq DNA:NT_004487, RefSeq Protein:NP_001137159, RefSeq Protein:NP_689707, RefSeq RNA:NM_001143687, RefSeq RNA:NM_152494, UniProtKB:B4DXA0, UniProtKB:B4DXB8, UniProtKB:Q5T197 No chr1 155006256 155023406 155033806 155050930 +PA142672006 127579 HGNC:26562 ENSG00000163354 DC-STAMP domain containing 2 DCST2 FLJ32934 Yes No Ensembl:ENSG00000163354, GeneCard:DCST2, HGNC:HGNC:26562, HumanCyc Gene:HS15048, ModBase:Q5T1A1, NCBI Gene:127579, RefSeq DNA:NT_004487, RefSeq Protein:NP_653223, RefSeq RNA:NM_144622, UniProtKB:Q5T1A1 No chr1 154991003 155006257 155018513 155033781 +PA134938623 81501 HGNC:18549 ENSG00000164935 dendrocyte expressed seven transmembrane protein DCSTAMP Dendritic cells (DC)-specific transmembrane protein, IL-Four INDuced DC-STAMP, FIND, TM7SF4 Yes No Comparative Toxicogenomics Database:81501, Ensembl:ENSG00000164935, GeneCard:TM7SF4, HGNC:HGNC:18549, HumanCyc Gene:HS09163, ModBase:Q9H295, NCBI Gene:81501, OMIM:605933, RefSeq DNA:NT_008046, RefSeq Protein:NP_110415, RefSeq RNA:NM_030788, UniProtKB:Q9H295 No chr8 105352024 105368917 104339087 104356874 +PA27179 1638 HGNC:2709 ENSG00000080166 dopachrome tautomerase DCT L-dopachrome isomerase, L-dopachrome tautomerase, dopachrome delta-isomerase TRP-2, TRP2, TYRP2 Yes No Comparative Toxicogenomics Database:1638, Ensembl:ENSG00000080166, GenAtlas:DCT, GeneCard:DCT, HGNC:HGNC:2709, HumanCyc Gene:HS01347, ModBase:P40126, NCBI Gene:1638, OMIM:191275, RefSeq DNA:NT_009952, RefSeq Protein:NP_001123361, RefSeq Protein:NP_001913, RefSeq RNA:NM_001129889, RefSeq RNA:NM_001922, UCSC Genome Browser:NM_001922, UniProtKB:P40126, UniProtKB:Q09GT4 No chr13 95091835 95131936 94437304 94550265 +PA138 1635 HGNC:2710 ENSG00000129187 dCMP deaminase DCTD Yes Yes Ensembl:ENSG00000129187, GenAtlas:DCTD, GeneCard:DCTD, HGNC:HGNC:2710, HumanCyc Gene:HS05252, ModBase:P32321, NCBI Gene:1635, OMIM:607638, RefSeq DNA:NT_016354, RefSeq Protein:NP_001012750, RefSeq Protein:NP_001912, RefSeq RNA:NM_001012732, RefSeq RNA:NM_001921, UCSC Genome Browser:NM_001921, UniProtKB:P32321 No chr4 183811244 183838630 182890091 182917477 +PA27180 1639 HGNC:2711 ENSG00000204843 dynactin subunit 1 DCTN1 dynactin 1, p150 glued homolog (Drosophila) Yes No Comparative Toxicogenomics Database:1639, Ensembl:ENSG00000204843, GenAtlas:DCTN1, GeneCard:DCTN1, HGNC:HGNC:2711, ModBase:Q14203, NCBI Gene:1639, OMIM:105400, OMIM:168605, OMIM:601143, OMIM:607641, RefSeq DNA:NG_008735, RefSeq DNA:NT_022184, RefSeq Protein:NP_001128512, RefSeq Protein:NP_001128513, RefSeq Protein:NP_001177765, RefSeq Protein:NP_001177766, RefSeq Protein:NP_004073, RefSeq Protein:NP_075408, RefSeq RNA:NM_001135040, RefSeq RNA:NM_001135041, RefSeq RNA:NM_001190836, RefSeq RNA:NM_001190837, RefSeq RNA:NM_004082, RefSeq RNA:NM_023019, RefSeq RNA:NR_033935, UCSC Genome Browser:NM_004082, UniProtKB:Q14203, UniProtKB:Q6IQ37, UniProtKB:Q6MZZ3 No chr2 74588281 74619214 74361154 74392087 +PA27181 10540 HGNC:2712 ENSG00000175203 dynactin subunit 2 DCTN2 dynactin 2 (p50) DCTN-50, RBP50 Yes No Comparative Toxicogenomics Database:10540, Ensembl:ENSG00000175203, GenAtlas:DCTN2, GeneCard:DCTN2, HGNC:HGNC:2712, HumanCyc Gene:HS10894, NCBI Gene:10540, OMIM:607376, RefSeq DNA:NT_029419, RefSeq Protein:NP_006391, RefSeq RNA:NM_006400, UCSC Genome Browser:NM_006400, UniProtKB:B2RBK5, UniProtKB:Q13561 No chr12 57923833 57941114 57530050 57547331 +PA27182 11258 HGNC:2713 ENSG00000137100 dynactin subunit 3 DCTN3 dynactin 3 (p22) DCTN-22 Yes No Ensembl:ENSG00000137100, GenAtlas:DCTN3, GeneCard:DCTN3, HGNC:HGNC:2713, HumanCyc Gene:HS06272, ModBase:O75935, NCBI Gene:11258, OMIM:607387, RefSeq DNA:NT_008413, RefSeq Protein:NP_009165, RefSeq Protein:NP_077324, RefSeq RNA:NM_007234, RefSeq RNA:NM_024348, UCSC Genome Browser:NM_007234, UniProtKB:O75935 No chr9 34613542 34620520 34613545 34620523 +PA27183 51164 HGNC:15518 ENSG00000132912 dynactin subunit 4 DCTN4 dynactin 4 (p62) Dyn4, p62 Yes No Ensembl:ENSG00000132912, GenAtlas:DCTN4, GeneCard:DCTN4, HGNC:HGNC:15518, HumanCyc Gene:HS05707, ModBase:Q9UJW0, NCBI Gene:51164, RefSeq DNA:NT_029289, RefSeq Protein:NP_001129115, RefSeq Protein:NP_001129116, RefSeq Protein:NP_057305, RefSeq RNA:NM_001135643, RefSeq RNA:NM_001135644, RefSeq RNA:NM_016221, UCSC Genome Browser:NM_016221, UniProtKB:B3KWW0, UniProtKB:Q9NSJ5, UniProtKB:Q9UJW0 No chr5 150088309 150138657 150708747 150759095 +PA142672007 84516 HGNC:24594 ENSG00000166847 dynactin subunit 5 DCTN5 dynactin 5 (p25) MGC3248, p25 Yes No Ensembl:ENSG00000166847, GeneCard:DCTN5, HGNC:HGNC:24594, HumanCyc Gene:HS15497, ModBase:Q9BTE1, NCBI Gene:84516, OMIM:612962, RefSeq DNA:NT_010393, RefSeq Protein:NP_001185940, RefSeq Protein:NP_001186672, RefSeq Protein:NP_115875, RefSeq RNA:NM_001199011, RefSeq RNA:NM_001199743, RefSeq RNA:NM_032486, RefSeq RNA:NR_037573, UniProtKB:Q9BTE1 No chr16 23652687 23685068 23641366 23676207 +PA134927975 10671 HGNC:16964 ENSG00000104671 dynactin subunit 6 DCTN6 Dynactin subunit p27, dynactin 6 WS-3, p27 Yes No Ensembl:ENSG00000104671, GeneCard:DCTN6, HGNC:HGNC:16964, HumanCyc Gene:HS02600, ModBase:O00399, NCBI Gene:10671, OMIM:612963, RefSeq DNA:NT_167187, RefSeq Protein:NP_006562, RefSeq RNA:NM_006571, UniProtKB:O00399 No chr8 30013813 30041155 30156297 30183639 +PA164718733 79077 HGNC:28777 ENSG00000179958 dCTP pyrophosphatase 1 DCTPP1 XTP3-transactivated protein A CDA03, MGC5627, RS21C6, XTP3TPA Yes No Ensembl:ENSG00000179958, GeneCard:DCTPP1, HGNC:HGNC:28777, HumanCyc Gene:HS17396, NCBI Gene:79077, RefSeq DNA:NT_010393, RefSeq Protein:NP_077001, RefSeq RNA:NM_024096, UniProtKB:Q9H773 No chr16 30435019 30441373 30423698 30430052 +PA142672008 54165 HGNC:18184 ENSG00000043093 defective in cullin neddylation 1 domain containing 1 DCUN1D1 """DCN1, defective in cullin neddylation 1, domain containing 1"", ""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"", ""squamous cell carcinoma related oncogene""" DCUN1L1, RP42, SCCRO, SCRO, Tes3 Yes No Ensembl:ENSG00000043093, GeneCard:DCUN1D1, HGNC:HGNC:18184, HumanCyc Gene:HS12099, ModBase:Q96GG9, NCBI Gene:54165, OMIM:605905, RefSeq DNA:NT_005612, RefSeq Protein:NP_065691, RefSeq RNA:NM_020640, UniProtKB:Q96GG9 No chr3 182660153 182703731 182938158 182986364 +PA134941036 55208 HGNC:20328 ENSG00000150401 defective in cullin neddylation 1 domain containing 2 DCUN1D2 """DCN1, defective in cullin neddylation 1, domain containing 2"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)""" C13orf17, FLJ10704, FLJ20092 Yes No Comparative Toxicogenomics Database:55208, Ensembl:ENSG00000150401, GeneCard:DCUN1D2, HGNC:HGNC:20328, HumanCyc Gene:HS14321, ModBase:Q6PH85, NCBI Gene:55208, RefSeq DNA:NT_027140, RefSeq Protein:NP_001014305, RefSeq RNA:NM_001014283, UniProtKB:Q6PH85 No chr13 114110134 114145024 113455819 113492047 +PA142672009 123879 HGNC:28734 ENSG00000188215 defective in cullin neddylation 1 domain containing 3 DCUN1D3 """DCN1, defective in cullin neddylation 1, domain containing 3"", ""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)""" DKFZp686O0290, FLJ41725, MGC48972, SCCRO3 Yes No Ensembl:ENSG00000188215, GeneCard:DCUN1D3, HGNC:HGNC:28734, ModBase:Q8IWE4, NCBI Gene:123879, RefSeq DNA:NT_010393, RefSeq Protein:NP_775746, RefSeq RNA:NM_173475, UniProtKB:Q8IWE4 No chr16 20866219 20911561 20854925 20900358 +PA142672010 23142 HGNC:28998 ENSG00000109184 defective in cullin neddylation 1 domain containing 4 DCUN1D4 """DCN1, defective in cullin neddylation 1, domain containing 4"", ""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)""" KIAA0276 Yes No Ensembl:ENSG00000109184, GeneCard:DCUN1D4, HGNC:HGNC:28998, ModBase:Q92564, NCBI Gene:23142, OMIM:612977, RefSeq DNA:NT_022853, RefSeq Protein:NP_001035492, RefSeq Protein:NP_055930, RefSeq RNA:NM_001040402, RefSeq RNA:NM_015115, UniProtKB:Q92564 No chr4 52700010 52783003 51843000 51916837 +PA142672011 84259 HGNC:28409 ENSG00000137692 defective in cullin neddylation 1 domain containing 5 DCUN1D5 """DCN1, defective in cullin neddylation 1, domain containing 5"", ""DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)""" FLJ32431, MGC2714 Yes No Comparative Toxicogenomics Database:84259, Ensembl:ENSG00000137692, GeneCard:DCUN1D5, HGNC:HGNC:28409, HumanCyc Gene:HS13691, ModBase:Q9BTE7, NCBI Gene:84259, RefSeq DNA:NT_033899, RefSeq Protein:NP_115675, RefSeq RNA:NM_032299, UniProtKB:Q9BTE7 No chr11 102921413 102962944 103050684 103092215 +PA27184 1641 HGNC:2714 ENSG00000077279 doublecortin DCX doublecortex DBCN, DC, LISX, SCLH, XLIS Yes No Comparative Toxicogenomics Database:1641, Ensembl:ENSG00000077279, GenAtlas:DCX, GeneCard:DCX, HGNC:HGNC:2714, HumanCyc Gene:HS01240, ModBase:O43602, NCBI Gene:1641, OMIM:300067, OMIM:300121, RefSeq DNA:NG_011750, RefSeq DNA:NT_011651, RefSeq Protein:NP_000546, RefSeq Protein:NP_001182482, RefSeq Protein:NP_835364, RefSeq Protein:NP_835365, RefSeq Protein:NP_835366, RefSeq RNA:NM_000555, RefSeq RNA:NM_001195553, RefSeq RNA:NM_178151, RefSeq RNA:NM_178152, RefSeq RNA:NM_178153, UCSC Genome Browser:NM_000555, UniProtKB:O43602 No chrX 110537007 110655460 111293779 111412232 +PA38772 51181 HGNC:18985 ENSG00000169738 dicarbonyl and L-xylulose reductase DCXR """dicarbonyl/L-xylulose reductase"", ""human carbonyl reductase 2"", ""kidney dicarbonyl reductase"", ""short chain dehydrogenase/reductase family 20C, member 1"", ""sperm surface protein P34H""" DCR, HCR2, KIDCR, P34H, SDR20C1 Yes No Comparative Toxicogenomics Database:51181, Ensembl:ENSG00000169738, GenAtlas:DCXR, GeneCard:DCXR, HGNC:HGNC:18985, HumanCyc Gene:HS09999, ModBase:Q7Z4W1, NCBI Gene:51181, OMIM:260800, OMIM:608347, RefSeq DNA:NT_010663, RefSeq Protein:NP_001182147, RefSeq Protein:NP_057370, RefSeq RNA:NM_001195218, RefSeq RNA:NM_016286, UCSC Genome Browser:NM_016286, UniProtKB:Q7Z4W1 No chr17 79993757 79995573 82035881 82037697 +PA162383418 79016 HGNC:28360 ENSG00000130311 DET1 and DDB1 associated 1 DDA1 C19orf58, MGC2594, PCIA1 Yes No Ensembl:ENSG00000130311, GeneCard:DDA1, HGNC:HGNC:28360, HumanCyc Gene:HS13329, NCBI Gene:79016, RefSeq DNA:NT_011295, RefSeq Protein:NP_076955, RefSeq RNA:NM_024050, UniProtKB:Q9BW61 No chr19 17420337 17434107 17309528 17323301 +PA27185 23576 HGNC:2715 ENSG00000153904 dimethylarginine dimethylaminohydrolase 1 DDAH1 DDAH Yes No Comparative Toxicogenomics Database:23576, Ensembl:ENSG00000153904, GenAtlas:DDAH1, GeneCard:DDAH1, HGNC:HGNC:2715, HumanCyc Gene:HS00016, ModBase:O94760, NCBI Gene:23576, OMIM:604743, RefSeq DNA:NT_032977, RefSeq Protein:NP_001127917, RefSeq Protein:NP_036269, RefSeq RNA:NM_001134445, RefSeq RNA:NM_012137, UCSC Genome Browser:NM_012137, UniProtKB:B1AKK2, UniProtKB:B4E3V1, UniProtKB:O94760, UniProtKB:Q5HYC8 No chr1 85784168 86044046 85318485 85578363 +PA27186 23564 HGNC:2716 ENSG00000206395, ENSG00000213722, ENSG00000225635, ENSG00000226634, ENSG00000227317, ENSG00000228128, ENSG00000233076 DDAH family member 2, ADMA-independent DDAH2 dimethylarginine dimethylaminohydrolase 2 DDAHII, G6A Yes No Comparative Toxicogenomics Database:23564, Ensembl:ENSG00000206395, Ensembl:ENSG00000213722, Ensembl:ENSG00000225635, Ensembl:ENSG00000226634, Ensembl:ENSG00000227317, Ensembl:ENSG00000228128, Ensembl:ENSG00000233076, GenAtlas:DDAH2, GeneCard:DDAH2, HGNC:HGNC:2716, HumanCyc Gene:HS03493, ModBase:O95865, NCBI Gene:23564, OMIM:604744, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_039268, RefSeq RNA:NM_013974, UCSC Genome Browser:NM_013974, UniProtKB:O95865 No chr6 31694817 31698039 31727037 31730265 +PA27187 1642 HGNC:2717 ENSG00000167986 damage specific DNA binding protein 1 DDB1 damage-specific DNA binding protein 1, 127kDa XPE Yes No Comparative Toxicogenomics Database:1642, Ensembl:ENSG00000167986, GenAtlas:DDB1, GeneCard:DDB1, HGNC:HGNC:2717, HumanCyc Gene:HS09674, ModBase:Q16531, NCBI Gene:1642, OMIM:600045, RefSeq DNA:NT_167190, RefSeq Protein:NP_001914, RefSeq RNA:NM_001923, UCSC Genome Browser:NM_001923, UniProtKB:Q16531 No chr11 61066919 61100691 61299447 61333212 +PA27188 1643 HGNC:2718 ENSG00000134574 damage specific DNA binding protein 2 DDB2 """DDB p48 subunit"", ""UV-damaged DNA-binding protein 2"", ""damage-specific DNA binding protein 2, 48kDa"", ""xeroderma pigmentosum group E protein""" DDBB, FLJ34321, UV-DDB2, XPE Yes No Comparative Toxicogenomics Database:1643, Ensembl:ENSG00000134574, GenAtlas:DDB2, GeneCard:DDB2, HGNC:HGNC:2718, HumanCyc Gene:HS05888, ModBase:Q92466, NCBI Gene:1643, OMIM:278740, OMIM:600811, RefSeq DNA:NG_009365, RefSeq DNA:NT_009237, RefSeq Protein:NP_000098, RefSeq RNA:NM_000107, UCSC Genome Browser:NM_000107, UniProtKB:Q92466 No chr11 47236493 47260769 47214942 47239218 +PA140 1644 HGNC:2719 ENSG00000132437 dopa decarboxylase DDC aromatic L-amino acid decarboxylase, dopa decarboxylase (aromatic L-amino acid decarboxylase) AADC Yes Yes Comparative Toxicogenomics Database:1644, Ensembl:ENSG00000132437, GenAtlas:DDC, GeneCard:DDC, HGNC:HGNC:2719, HumanCyc Gene:HS05635, ModBase:P20711, NCBI Gene:1644, OMIM:107930, OMIM:608643, RefSeq DNA:NG_008742, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_000781, RefSeq Protein:NP_001076440, RefSeq Protein:NP_001229815, RefSeq Protein:NP_001229816, RefSeq Protein:NP_001229817, RefSeq Protein:NP_001229818, RefSeq Protein:NP_001229819, RefSeq RNA:NM_000790, RefSeq RNA:NM_001082971, RefSeq RNA:NM_001242886, RefSeq RNA:NM_001242887, RefSeq RNA:NM_001242888, RefSeq RNA:NM_001242889, RefSeq RNA:NM_001242890, UCSC Genome Browser:NM_000790, UniProtKB:P20711, UniProtKB:Q53Y41 No chr7 50526134 50633154 50458436 50565460 +PA134861440 80821 HGNC:19714 ENSG00000100523 DDHD domain containing 1 DDHD1 intracellular phospholipase A1 alpha, phosphatidic acid-preferring phospholipase A1 KIAA1705, PA-PLA1, PAPLA1, SPG28, iPLA1alpha, iPLA1α Yes Yes Comparative Toxicogenomics Database:80821, Ensembl:ENSG00000100523, GeneCard:DDHD1, HGNC:HGNC:19714, HumanCyc Gene:HS02103, NCBI Gene:80821, RefSeq DNA:NT_026437, RefSeq Protein:NP_001153619, RefSeq Protein:NP_001153620, RefSeq Protein:NP_085140, RefSeq RNA:NM_001160147, RefSeq RNA:NM_001160148, RefSeq RNA:NM_030637, UniProtKB:Q8NEL9 No chr14 53503458 53620046 53036740 53153328 +PA128394618 23259 HGNC:29106 ENSG00000085788 DDHD domain containing 2 DDHD2 intracellular phospholipase A1 gamma KIAA0725, SAMWD1, SPG54, iPLA1gamma, iPLA1γ, p125B Yes No Comparative Toxicogenomics Database:23259, Ensembl:ENSG00000085788, GeneCard:DDHD2, HGNC:HGNC:29106, NCBI Gene:23259, RefSeq DNA:NT_167187, RefSeq Protein:NP_001157704, RefSeq Protein:NP_001157706, RefSeq Protein:NP_056029, RefSeq RNA:NM_001164232, RefSeq RNA:NM_001164234, RefSeq RNA:NM_015214, UniProtKB:B3KPM6, UniProtKB:O94830 No chr8 38088861 38120351 38231343 38273442 +PA142672003 414301 HGNC:18961 ENSG00000170967 DNA damage inducible 1 homolog 1 DDI1 DNA-damage inducible 1 homolog 1 (S. cerevisiae) FLJ36017 Yes No Ensembl:ENSG00000170967, GeneCard:DDI1, HGNC:HGNC:18961, ModBase:Q8WTU0, NCBI Gene:414301, RefSeq DNA:NT_033899, RefSeq Protein:NP_001001711, RefSeq RNA:NM_001001711, UniProtKB:Q8WTU0 No chr11 103907308 103909922 104036580 104039194 +PA142672004 84301 HGNC:24578 ENSG00000197312 DNA damage inducible 1 homolog 2 DDI2 DNA-damage inducible 1 homolog 2 (S. cerevisiae) MGC14844 Yes No Comparative Toxicogenomics Database:84301, Ensembl:ENSG00000197312, GeneCard:DDI2, HGNC:HGNC:24578, ModBase:Q5TDH0, NCBI Gene:84301, RefSeq DNA:NT_004610, RefSeq Protein:NP_115717, RefSeq RNA:NM_032341, UniProtKB:Q5TDH0 No chr1 15943953 15995539 15617458 15661057 +PA162377743 220042 HGNC:26351 ENSG00000165490 DNA damage induced apoptosis suppressor DDIAS DNA damage-induced apoptosis suppressor, chromosome 11 open reading frame 82, nitric oxide-inducible C11orf82, FLJ25416, FLJ38838, noxin Yes No Ensembl:ENSG00000165490, GeneCard:C11orf82, HGNC:HGNC:26351, HumanCyc Gene:HS15330, NCBI Gene:220042, RefSeq DNA:NT_167190, RefSeq Protein:NP_659455, RefSeq RNA:NM_145018, UniProtKB:Q8IXT1 No chr11 82611017 82645701 82901695 82934659 +PA27193 1649 HGNC:2726 ENSG00000175197 DNA damage inducible transcript 3 DDIT3 C/EBP homologous protein, C/EBP zeta, DNA-damage-inducible transcript 3, growth arrest and DNA-damage-inducible gene CHOP, CHOP10, GADD153 Yes No Comparative Toxicogenomics Database:1649, Ensembl:ENSG00000175197, GenAtlas:DDIT3, GeneCard:DDIT3, HGNC:HGNC:2726, HumanCyc Gene:HS10892, ModBase:P35638, NCBI Gene:1649, OMIM:126337, RefSeq DNA:NT_029419, RefSeq Protein:NP_001181982, RefSeq Protein:NP_001181983, RefSeq Protein:NP_001181984, RefSeq Protein:NP_001181985, RefSeq Protein:NP_001181986, RefSeq Protein:NP_004074, RefSeq RNA:NM_001195053, RefSeq RNA:NM_001195054, RefSeq RNA:NM_001195055, RefSeq RNA:NM_001195056, RefSeq RNA:NM_001195057, RefSeq RNA:NM_004083, UCSC Genome Browser:NM_004083, UniProtKB:P35638, UniProtKB:Q53YD1 No chr12 57910371 57914300 57516588 57520517 +PA134977994 54541 HGNC:24944 ENSG00000168209 DNA damage inducible transcript 4 DDIT4 DNA-damage-inducible transcript 4, HIF-1 responsive RTP801 Dig2, FLJ20500, REDD-1, REDD1, RTP801 Yes No Comparative Toxicogenomics Database:54541, Ensembl:ENSG00000168209, GeneCard:DDIT4, HGNC:HGNC:24944, HumanCyc Gene:HS15646, ModBase:Q9NX09, NCBI Gene:54541, OMIM:607729, RefSeq DNA:NT_030059, RefSeq Protein:NP_061931, RefSeq RNA:NM_019058, UniProtKB:Q9NX09 No chr10 74033677 74035797 72273919 72276039 +PA128394749 115265 HGNC:30555 ENSG00000145358 DNA damage inducible transcript 4 like DDIT4L DNA-damage-inducible transcript 4-like, regulated in development and DNA damage response 2, similar to Smhs1 protein REDD2, Rtp801L Yes No Comparative Toxicogenomics Database:115265, Ensembl:ENSG00000145358, GeneCard:DDIT4L, HGNC:HGNC:30555, HumanCyc Gene:HS14086, ModBase:Q96D03, NCBI Gene:115265, OMIM:607730, RefSeq DNA:NT_016354, RefSeq Protein:NP_660287, RefSeq RNA:NM_145244, UCSC Genome Browser:NM_145244, UniProtKB:Q96D03 No chr4 101106267 101111939 100185870 100190498 +PA134906790 23109 HGNC:24458 ENSG00000181418 dendrin DDN KIAA0749 Yes No Ensembl:ENSG00000181418, GeneCard:DDN, HGNC:HGNC:24458, NCBI Gene:23109, OMIM:610588, RefSeq DNA:NT_029419, RefSeq Protein:NP_055901, RefSeq RNA:NM_015086, UniProtKB:O94850 No chr12 49388933 49393088 48995149 49001772 +PA27194 8528 HGNC:2727 ENSG00000203797 D-aspartate oxidase DDO DASOX, DASPO Yes No Comparative Toxicogenomics Database:8528, Ensembl:ENSG00000203797, GenAtlas:DDO, GeneCard:DDO, HGNC:HGNC:2727, HumanCyc Gene:HS00655, ModBase:Q99489, NCBI Gene:8528, OMIM:124450, RefSeq DNA:NT_025741, RefSeq Protein:NP_003640, RefSeq Protein:NP_004023, RefSeq RNA:NM_003649, RefSeq RNA:NM_004032, UCSC Genome Browser:NM_003649, UniProtKB:Q99489 No chr6 110709545 110736839 110392180 110415550 +PA27195 1650 HGNC:2728 ENSG00000244038 dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit DDOST advanced glycation end-product receptor 1, dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic), oligosaccharyltransferase subunit 48 GATD6, KIAA0115, OST, OST48, WBP1 Yes No Comparative Toxicogenomics Database:1650, Ensembl:ENSG00000244038, GenAtlas:DDOST, GeneCard:DDOST, HGNC:HGNC:2728, HumanCyc Gene:HS04108, NCBI Gene:1650, OMIM:602202, RefSeq DNA:NT_004610, RefSeq Protein:NP_005207, RefSeq RNA:NM_005216, UCSC Genome Browser:NM_005216, UniProtKB:P39656 No chr1 20978260 20988037 20651767 20661544 +PA24348 780 HGNC:2730 ENSG00000137332, ENSG00000204580, ENSG00000215522, ENSG00000230456, ENSG00000234078 discoidin domain receptor tyrosine kinase 1 DDR1 CAK, CD167, EDDR1, NEP, NTRK4, PTK3A, RTK6 Yes No Comparative Toxicogenomics Database:780, Ensembl:ENSG00000137332, Ensembl:ENSG00000204580, Ensembl:ENSG00000215522, Ensembl:ENSG00000230456, Ensembl:ENSG00000234078, GenAtlas:DDR1, GeneCard:DDR1, HGNC:HGNC:2730, HumanCyc Gene:HS06318, HumanCyc Gene:HS11474, ModBase:Q5ST12, NCBI Gene:780, OMIM:600408, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001189450, RefSeq Protein:NP_001189451, RefSeq Protein:NP_001189452, RefSeq Protein:NP_001945, RefSeq Protein:NP_054699, RefSeq Protein:NP_054700, RefSeq RNA:NM_001202521, RefSeq RNA:NM_001202522, RefSeq RNA:NM_001202523, RefSeq RNA:NM_001954, RefSeq RNA:NM_013993, RefSeq RNA:NM_013994, UCSC Genome Browser:NM_001954, UniProtKB:Q08345 No chr6 30850694 30867933 30880909 30900156 +PA27196 4921 HGNC:2731 ENSG00000162733 discoidin domain receptor tyrosine kinase 2 DDR2 NTRKR3, TKT, TYRO10 Yes No Comparative Toxicogenomics Database:4921, Ensembl:ENSG00000162733, GenAtlas:DDR2, GeneCard:DDR2, HGNC:HGNC:2731, HumanCyc Gene:HS08729, ModBase:Q16832, NCBI Gene:4921, OMIM:191311, OMIM:271665, RefSeq DNA:NG_016290, RefSeq DNA:NT_004487, RefSeq Protein:NP_001014796, RefSeq Protein:NP_006173, RefSeq RNA:NM_001014796, RefSeq RNA:NM_006182, UCSC Genome Browser:NM_006182, UniProtKB:Q16832 No chr1 162602228 162756409 162631213 162783524 +PA164718734 65992 HGNC:16110 ENSG00000198171 DDRGK domain containing 1 DDRGK1 Dashurin C20orf116, UFBP1, dJ1187M17.3 Yes Yes Ensembl:ENSG00000198171, GeneCard:DDRGK1, HGNC:HGNC:16110, ModBase:Q96HY6, NCBI Gene:65992, RefSeq DNA:NT_011387, RefSeq Protein:NP_076424, RefSeq RNA:NM_023935, UniProtKB:Q96HY6 No chr20 3171012 3185295 3190350 3204697 +PA27197 1652 HGNC:2732 ENSG00000099977 D-dopachrome tautomerase DDT D-dopachrome decarboxylase D-DT, DDCT, MIF-2, MIF2 Yes No Ensembl:ENSG00000099977, GenAtlas:DDT, GeneCard:DDT, HGNC:HGNC:2732, HumanCyc Gene:HS01942, ModBase:P30046, NCBI Gene:1652, OMIM:602750, RefSeq DNA:NT_011520, RefSeq Protein:NP_001077861, RefSeq Protein:NP_001346, RefSeq RNA:NM_001084392, RefSeq RNA:NM_001355, UCSC Genome Browser:NM_001355, UniProtKB:P30046, UniProtKB:Q53Y51 No chr22 24313554 24322019 23971365 23979828 +PA162383433 100037417 HGNC:33446 ENSG00000099974 D-dopachrome tautomerase like DDTL D-dopachrome decarboxylase-like protein, D-dopachrome tautomerase-like Yes No Ensembl:ENSG00000099974, GeneCard:DDTL, HGNC:HGNC:33446, ModBase:A6NHG4, NCBI Gene:100037417, RefSeq DNA:NT_011520, RefSeq Protein:NP_001077862, RefSeq RNA:NM_001084393, UniProtKB:A6NHG4 No chr22 24308652 24314748 23966221 23972559 +PA27199 1653 HGNC:2734 ENSG00000079785 DEAD-box helicase 1 DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1, DEAD-box RNA helicase DDX1, DEAD-box protein retinoblastoma DBP-RB Yes No Comparative Toxicogenomics Database:1653, Ensembl:ENSG00000079785, GenAtlas:DDX1, GeneCard:DDX1, HGNC:HGNC:2734, HumanCyc Gene:HS01337, ModBase:Q92499, NCBI Gene:1653, OMIM:601257, RefSeq DNA:NT_005334, RefSeq Protein:NP_004930, RefSeq RNA:NM_004939, UCSC Genome Browser:NM_004939, UniProtKB:A3RJH1, UniProtKB:Q92499 No chr2 15731745 15771235 15591621 15631111 +PA27200 1662 HGNC:2735 ENSG00000178105 DEAD-box helicase 10 DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 Dbp4, HRH-J8 Yes No Comparative Toxicogenomics Database:1662, Ensembl:ENSG00000178105, GenAtlas:DDX10, GeneCard:DDX10, HGNC:HGNC:2735, HumanCyc Gene:HS11251, ModBase:Q13206, NCBI Gene:1662, OMIM:601235, RefSeq DNA:NT_033899, RefSeq Protein:NP_004389, RefSeq RNA:NM_004398, UCSC Genome Browser:NM_004398, UniProtKB:Q13206 No chr11 108535816 108811650 108665025 108940930 +PA27201 1663 HGNC:2736 ENSG00000013573 DEAD/H-box helicase 11 DDX11 CHL1-like helicase homolog (S. cerevisiae), DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11, Keratinocyte growth factor-regulated gene 2, Warsaw Breakage Syndrome CHL1, CHLR1, ChlR1, KRG-2, KRG2, WABS Yes No Comparative Toxicogenomics Database:1663, Ensembl:ENSG00000013573, GenAtlas:DDX11, GeneCard:DDX11, HGNC:HGNC:2736, HumanCyc Gene:HS00351, ModBase:Q96FC9, NCBI Gene:1663, OMIM:601150, OMIM:613398, RefSeq DNA:NG_023352, RefSeq DNA:NT_009714, RefSeq Protein:NP_004390, RefSeq Protein:NP_085911, RefSeq Protein:NP_689651, RefSeq RNA:NM_004399, RefSeq RNA:NM_030653, RefSeq RNA:NM_152438, UCSC Genome Browser:NM_004399, UniProtKB:Q2NKM7, UniProtKB:Q96FC9 No chr12 31226779 31257733 31073574 31104799 +PA165751228 100287102 HGNC:37102 ENSG00000223972 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 DDX11L1 Yes No Ensembl:ENSG00000223972, GeneCard:DDX11L1, HGNC:HGNC:37102, NCBI Gene:100287102, RefSeq DNA:NT_077402, RefSeq Protein:XP_002342051, RefSeq Protein:XP_003403591, RefSeq RNA:XM_002342010, RefSeq RNA:XM_003403543 No chr1 11874 14409 11874 14409 +PA165449935 100287029 HGNC:14125 ENSG00000233614 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 10 DDX11L10 DDX11P Yes No Ensembl:ENSG00000233614, GeneCard:DDX11L10, HGNC:HGNC:14125, NCBI Gene:100287029, RefSeq DNA:NT_010393, RefSeq Protein:XP_002343443, RefSeq Protein:XP_002343444, RefSeq RNA:XM_002343402, RefSeq RNA:XM_002343403, RefSeq RNA:XR_132613 No chr16 61555 64090 11555 14090 +PA165392348 HGNC:37112 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 13 DDX11L13 Yes No HGNC:HGNC:37112 No +PA165756574 HGNC:37114 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 15 DDX11L15 Yes No HGNC:HGNC:37114 No +PA165696559 84771 HGNC:37103 ENSG00000236397 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2 DDX11L2 Yes No Ensembl:ENSG00000236397, GeneCard:DDX11L2, HGNC:HGNC:37103, NCBI Gene:84771, RefSeq DNA:NT_022135, RefSeq RNA:NR_024004, RefSeq RNA:NR_024005 No chr2 114356605 114361294 113599028 113603717 +PA165585761 HGNC:37107 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 6 DDX11L6 Yes No HGNC:HGNC:37107 No +PA165543405 HGNC:37108 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 7 DDX11L7 Yes No HGNC:HGNC:37108 No +PA27203 440081 HGNC:2737 ENSG00000214826 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene DDX12P CHL1-like helicase homolog 2 (S. cerevisiae) CHLR2 Yes Yes Ensembl:ENSG00000214826, GenAtlas:DDX12, GeneCard:DDX12P, HGNC:HGNC:2737, NCBI Gene:440081, OMIM:601151, RefSeq DNA:NT_009714, RefSeq Protein:NP_004391, RefSeq RNA:NM_004400, RefSeq RNA:NR_033399 No chr12 9570287 9600768 9417691 9448172 +PA27206 10521 HGNC:2740 ENSG00000100201 DEAD-box helicase 17 DDX17 DEAD (Asp-Glu-Ala-Asp) box helicase 17, p72 RNA helicase P72 Yes No Comparative Toxicogenomics Database:10521, Ensembl:ENSG00000100201, GenAtlas:DDX17, GeneCard:DDX17, HGNC:HGNC:2740, HumanCyc Gene:HS01998, ModBase:Q92841, NCBI Gene:10521, OMIM:608469, RefSeq DNA:NT_011520, RefSeq Protein:NP_001091974, RefSeq Protein:NP_001091975, RefSeq Protein:NP_006377, RefSeq Protein:NP_112020, RefSeq RNA:NM_001098504, RefSeq RNA:NM_001098505, RefSeq RNA:NM_006386, RefSeq RNA:NM_030881, UCSC Genome Browser:NM_006386, UniProtKB:Q59F66, UniProtKB:Q92841, UniProtKB:Q9UQL5 No chr22 38879443 38903622 38483438 38506340 +PA27207 8886 HGNC:2741 ENSG00000088205 DEAD-box helicase 18 DDX18 ATP-dependent RNA helicase DDX18, DEAD (Asp-Glu-Ala-Asp) box polypeptide 18, Helicase Associated with Set1 homolog (S. cerevisiae), Myc-regulated DEAD box protein Has1, MrDb Yes No Comparative Toxicogenomics Database:8886, Ensembl:ENSG00000088205, GenAtlas:DDX18, GeneCard:DDX18, HGNC:HGNC:2741, HumanCyc Gene:HS01592, ModBase:Q9NVP1, NCBI Gene:8886, OMIM:606355, RefSeq DNA:NT_022135, RefSeq Protein:NP_006764, RefSeq RNA:NM_006773, UCSC Genome Browser:NM_006773, UniProtKB:Q8N254, UniProtKB:Q9NVP1 No chr2 118572255 118589953 117814679 117832377 +PA134936262 319099 HGNC:20007 ENSG00000259165 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 1 DDX18P1 Yes No Ensembl:ENSG00000259165, GeneCard:DDX18P1, HGNC:HGNC:20007, NCBI Gene:319099, RefSeq DNA:NG_002480, RefSeq DNA:NT_026437 No chr14 69550062 69552423 69083345 69085714 +PA134894996 55308 HGNC:25628 ENSG00000168872 DEAD-box helicase 19A DDX19A DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A DDX19L, FLJ11126 Yes No Ensembl:ENSG00000168872, GeneCard:DDX19A, HGNC:HGNC:25628, HumanCyc Gene:HS09839, ModBase:Q9NUU7, NCBI Gene:55308, RefSeq DNA:NT_010498, RefSeq Protein:NP_060802, RefSeq RNA:NM_018332, UniProtKB:Q9NUU7 No chr16 70380764 70407286 70346829 70373383 +PA27208 11269 HGNC:2742 ENSG00000157349 DEAD-box helicase 19B DDX19B DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B, dead box protein 5 homolog (S. cerevisiae) DBP5, DDX19 Yes No Comparative Toxicogenomics Database:11269, Ensembl:ENSG00000157349, GenAtlas:DDX19B, GeneCard:DDX19B, HGNC:HGNC:2742, HumanCyc Gene:HS08205, ModBase:Q9UMR2, NCBI Gene:11269, OMIM:605812, RefSeq DNA:NT_010498, RefSeq Protein:NP_001014449, RefSeq Protein:NP_001014451, RefSeq Protein:NP_009173, RefSeq RNA:NM_001014449, RefSeq RNA:NM_001014451, RefSeq RNA:NM_007242, UCSC Genome Browser:NM_007242, UniProtKB:Q96KE7, UniProtKB:Q9UMR2 No chr16 70323670 70367735 70289767 70335213 +PA27209 11218 HGNC:2743 ENSG00000064703 DEAD-box helicase 20 DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20, Probable ATP-dependent RNA helicase DDX20 DP103, GEMIN3 Yes Yes Comparative Toxicogenomics Database:11218, Ensembl:ENSG00000064703, GenAtlas:DDX20, GeneCard:DDX20, HGNC:HGNC:2743, HumanCyc Gene:HS00816, ModBase:Q9UHI6, NCBI Gene:11218, OMIM:606168, RefSeq DNA:NT_032977, RefSeq Protein:NP_009135, RefSeq RNA:NM_007204, UCSC Genome Browser:NM_007204, UniProtKB:Q9H4N4, UniProtKB:Q9UHI6 No chr1 112298190 112310199 111755568 111767577 +PA27210 9188 HGNC:2744 ENSG00000165732 DExD-box helicase 21 DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21, nucleolar RNA helicase 2 GURDB, Gu-alpha, RH-II/GU Yes No Comparative Toxicogenomics Database:9188, Ensembl:ENSG00000165732, GenAtlas:DDX21, GeneCard:DDX21, HGNC:HGNC:2744, HumanCyc Gene:HS09277, ModBase:Q9NR30, NCBI Gene:9188, OMIM:606357, RefSeq DNA:NT_030059, RefSeq Protein:NP_004719, RefSeq RNA:NM_004728, UCSC Genome Browser:NM_004728, UniProtKB:Q9NR30 No chr10 70715879 70744825 68956123 68985069 +PA134934941 9416 HGNC:17347 ENSG00000174243 DEAD-box helicase 23 DDX23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23, U5 snRNP-specific 100-kD protein PRPF28, SNRNP100, U5-100K, U5-100KD, prp28 Yes No Ensembl:ENSG00000174243, GeneCard:DDX23, HGNC:HGNC:17347, HumanCyc Gene:HS10780, ModBase:Q9BUQ8, NCBI Gene:9416, OMIM:612172, RefSeq DNA:NT_029419, RefSeq Protein:NP_004809, RefSeq RNA:NM_004818, UniProtKB:B3KY11, UniProtKB:Q9BUQ8 No chr12 49223539 49245957 48829756 48852174 +PA27211 57062 HGNC:13266 ENSG00000089737 DEAD-box helicase 24 DDX24 DEAD (Asp-Glu-Ala-Asp) box helicase 24, DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 Yes No Comparative Toxicogenomics Database:57062, Ensembl:ENSG00000089737, GenAtlas:DDX24, GeneCard:DDX24, HGNC:HGNC:13266, HumanCyc Gene:HS01664, ModBase:Q9GZR7, NCBI Gene:57062, OMIM:606181, RefSeq DNA:NT_026437, RefSeq Protein:NP_065147, RefSeq RNA:NM_020414, UCSC Genome Browser:NM_020414, UniProtKB:Q9GZR7 No chr14 94517268 94547558 94050922 94081212 +PA38644 29118 HGNC:18698 ENSG00000109832 DEAD-box helicase 25 DDX25 ATP-dependent RNA helicase DDX25, DEAD (Asp-Glu-Ala-Asp) box helicase 25, gonadotropin-regulated testicular RNA helicase GRTH Yes No Comparative Toxicogenomics Database:29118, Ensembl:ENSG00000109832, GenAtlas:DDX25, GeneCard:DDX25, HGNC:HGNC:18698, HumanCyc Gene:HS03262, ModBase:Q9UHL0, NCBI Gene:29118, OMIM:607663, RefSeq DNA:NT_033899, RefSeq Protein:NP_037396, RefSeq RNA:NM_013264, UCSC Genome Browser:NM_013264, UniProtKB:Q9UHL0 No chr11 125774261 125793005 125903275 125923110 +PA27213 55661 HGNC:15837 ENSG00000124228 DEAD-box helicase 27 DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 DRS1, dJ686N3.1 Yes No Comparative Toxicogenomics Database:55661, Ensembl:ENSG00000124228, GenAtlas:DDX27, GeneCard:DDX27, HGNC:HGNC:15837, HumanCyc Gene:HS04745, ModBase:Q9BXF0, NCBI Gene:55661, RefSeq DNA:NT_011362, RefSeq Protein:NP_060365, RefSeq RNA:NM_017895, UCSC Genome Browser:NM_017895, UniProtKB:Q96GQ7 No chr20 47835832 47860614 49219295 49244077 +PA27214 55794 HGNC:17330 ENSG00000182810 DEAD-box helicase 28 DDX28 DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 FLJ11282, MDDX28 Yes No Comparative Toxicogenomics Database:55794, Ensembl:ENSG00000182810, GenAtlas:DDX28, GeneCard:DDX28, HGNC:HGNC:17330, ModBase:Q9NUL7, NCBI Gene:55794, OMIM:607618, RefSeq DNA:NT_010498, RefSeq Protein:NP_060850, RefSeq RNA:NM_018380, UCSC Genome Browser:NM_018380, UniProtKB:Q9NUL7 No chr16 68055177 68057770 68021274 68023867 +PA27218 64794 HGNC:16715 ENSG00000125485 DEAD-box helicase 31 DDX31 """DEAD (Asp-Glu-Ala-Asp) box polypeptide 31"", ""protein phosphatase 1, regulatory subunit 25""" FLJ13633, FLJ14578, FLJ23349, PPP1R25 Yes No Comparative Toxicogenomics Database:64794, Ensembl:ENSG00000125485, GenAtlas:DDX31, GeneCard:DDX31, HGNC:HGNC:16715, HumanCyc Gene:HS04894, ModBase:Q96SX5, NCBI Gene:64794, RefSeq DNA:NT_035014, RefSeq Protein:NP_073616, RefSeq Protein:NP_619526, RefSeq RNA:NM_022779, RefSeq RNA:NM_138620, UCSC Genome Browser:NM_022779, UniProtKB:Q9H8H2 No chr9 135468384 135545788 132592997 132670403 +PA27226 10212 HGNC:17821 ENSG00000123136 DExD-box helicase 39A DDX39A """DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A"", ""UAP56-related helicase, 49 kDa""" BAT1L, DDX39, DDXL, URH49 Yes No Comparative Toxicogenomics Database:10212, Ensembl:ENSG00000123136, GenAtlas:DDX39, GeneCard:DDX39, HGNC:HGNC:17821, HumanCyc Gene:HS04633, ModBase:O00148, NCBI Gene:10212, RefSeq DNA:NT_011295, RefSeq Protein:NP_005795, RefSeq RNA:NM_005804, RefSeq RNA:NR_038336, UCSC Genome Browser:NM_005804, UniProtKB:O00148 No chr19 14519610 14530195 14408798 14419383 +PA25262 7919 HGNC:13917 ENSG00000198563, ENSG00000215425, ENSG00000225073, ENSG00000225859, ENSG00000229496, ENSG00000230624, ENSG00000235439 DExD-box helicase 39B DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B, U2AF65-associated protein 56 BAT1, D6S81E, UAP56 Yes No Ensembl:ENSG00000198563, Ensembl:ENSG00000215425, Ensembl:ENSG00000225073, Ensembl:ENSG00000225859, Ensembl:ENSG00000229496, Ensembl:ENSG00000230624, Ensembl:ENSG00000235439, GenAtlas:BAT1, GeneCard:BAT1, HGNC:HGNC:13917, ModBase:Q5STU8, NCBI Gene:7919, OMIM:142560, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_004631, RefSeq Protein:NP_542165, RefSeq RNA:NM_004640, RefSeq RNA:NM_080598, RefSeq RNA:NR_037852, UCSC Genome Browser:NM_004640, UniProtKB:Q13838 No chr6 31497996 31510252 31530219 31542475 +PA27216 1654 HGNC:2745 ENSG00000215301 DEAD-box helicase 3 X-linked DDX3X """DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"", ""Helicase-like protein 2""" CAP-Rf, DBX, DDX14, DDX3, HLP2 Yes No Comparative Toxicogenomics Database:1654, Ensembl:ENSG00000215301, GeneCard:DDX3X, HGNC:HGNC:2745, ModBase:O00571, NCBI Gene:1654, OMIM:300160, RefSeq DNA:NG_012830, RefSeq DNA:NT_079573, RefSeq Protein:NP_001180345, RefSeq Protein:NP_001180346, RefSeq Protein:NP_001347, RefSeq RNA:NM_001193416, RefSeq RNA:NM_001193417, RefSeq RNA:NM_001356, UCSC Genome Browser:NM_001356, UniProtKB:A8K538, UniProtKB:O00571 No chrX 41192561 41209527 41333308 41364472 +PA27168 8653 HGNC:2699 ENSG00000067048 DEAD-box helicase 3 Y-linked DDX3Y """DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked""" DBY Yes No Comparative Toxicogenomics Database:8653, Ensembl:ENSG00000067048, GeneCard:DDX3Y, HGNC:HGNC:2699, HumanCyc Gene:HS00893, ModBase:O15523, NCBI Gene:8653, OMIM:400010, RefSeq DNA:NG_012831, RefSeq DNA:NT_011875, RefSeq Protein:NP_001116137, RefSeq Protein:NP_004651, RefSeq RNA:NM_001122665, RefSeq RNA:NM_004660, UCSC Genome Browser:NM_004660, UniProtKB:O15523 No chrY 15016019 15032390 12903999 12920478 +PA38646 54514 HGNC:18700 ENSG00000152670 DEAD-box helicase 4 DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 VASA Yes No Comparative Toxicogenomics Database:54514, Ensembl:ENSG00000152670, GenAtlas:DDX4, GeneCard:DDX4, HGNC:HGNC:18700, HumanCyc Gene:HS07844, ModBase:Q9NQI0, NCBI Gene:54514, OMIM:605281, RefSeq DNA:NT_006713, RefSeq Protein:NP_001129506, RefSeq Protein:NP_001136021, RefSeq Protein:NP_001160005, RefSeq Protein:NP_001160006, RefSeq Protein:NP_077726, RefSeq RNA:NM_001136034, RefSeq RNA:NM_001142549, RefSeq RNA:NM_001166533, RefSeq RNA:NM_001166534, RefSeq RNA:NM_024415, UCSC Genome Browser:NM_019039, UniProtKB:B3KSF4, UniProtKB:Q9NQI0 No chr5 55033845 55112975 55737994 55817146 +PA134908862 51428 HGNC:18674 ENSG00000183258 DEAD-box helicase 41 DDX41 Abstrakt, DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 ABS, MGC8828 Yes No Comparative Toxicogenomics Database:51428, Ensembl:ENSG00000183258, GeneCard:DDX41, HGNC:HGNC:18674, ModBase:Q9UJV9, NCBI Gene:51428, OMIM:608170, RefSeq DNA:NT_023133, RefSeq Protein:NP_057306, RefSeq RNA:NM_016222, UniProtKB:Q9UJV9 No chr5 176938578 176943967 177511577 177517326 +PA134875761 11325 HGNC:18676 ENSG00000198231 DEAD-box helicase 42 DDX42 """DEAD (Asp-Glu-Ala-Asp) box helicase 42"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"", ""splicing factor 3b, subunit 8""" RHELP, RNAHP, SF3B8, SF3b125 Yes No Comparative Toxicogenomics Database:11325, Ensembl:ENSG00000198231, GeneCard:DDX42, HGNC:HGNC:18676, HumanCyc Gene:HS01561, ModBase:Q86XP3, NCBI Gene:11325, OMIM:613369, RefSeq DNA:NT_010783, RefSeq Protein:NP_031398, RefSeq Protein:NP_987095, RefSeq RNA:NM_007372, RefSeq RNA:NM_203499, UniProtKB:Q86XP3 No chr17 61851549 61896677 63773856 63819317 +PA134988734 55510 HGNC:18677 ENSG00000080007 DEAD-box helicase 43 DDX43 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43, cancer/testis antigen 13 CT13, DKFZp434H2114, HAGE Yes No Ensembl:ENSG00000080007, GeneCard:DDX43, HGNC:HGNC:18677, HumanCyc Gene:HS01345, ModBase:Q9NXZ2, NCBI Gene:55510, OMIM:606286, RefSeq DNA:NT_007299, RefSeq Protein:NP_061135, RefSeq RNA:NM_018665, UniProtKB:Q9NXZ2 No chr6 74104285 74127289 73394562 73417566 +PA134894452 9879 HGNC:18681 ENSG00000145833 DEAD-box helicase 46 DDX46 DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 FLJ25329, KIAA0801, PRPF5, Prp5 Yes No Comparative Toxicogenomics Database:9879, Ensembl:ENSG00000145833, GeneCard:DDX46, HGNC:HGNC:18681, HumanCyc Gene:HS07291, ModBase:Q7L014, NCBI Gene:9879, RefSeq DNA:NT_034772, RefSeq Protein:NP_055644, RefSeq RNA:NM_014829, UniProtKB:Q7L014 No chr5 134094461 134166811 134758734 134831138 +PA134918403 51202 HGNC:18682 ENSG00000213782 DEAD-box helicase 47 DDX47 DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 DKFZp564O176, FLJ30012, HQ0256, RRP3 Yes No Comparative Toxicogenomics Database:51202, Ensembl:ENSG00000213782, GeneCard:DDX47, HGNC:HGNC:18682, ModBase:Q9H0S4, NCBI Gene:51202, RefSeq DNA:NT_009714, RefSeq Protein:NP_057439, RefSeq Protein:NP_957518, RefSeq RNA:NM_016355, RefSeq RNA:NM_201224, UniProtKB:Q9H0S4, UniProtKB:Q9UI98 No chr12 12966280 12982915 12813346 12829981 +PA134956171 54555 HGNC:18684 ENSG00000105671 DEAD-box helicase 49 DDX49 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 Dbp8, FLJ10432 Yes No Ensembl:ENSG00000105671, GeneCard:DDX49, HGNC:HGNC:18684, HumanCyc Gene:HS02788, ModBase:Q9Y6V7, NCBI Gene:54555, RefSeq DNA:NT_011295, RefSeq Protein:NP_061943, RefSeq RNA:NM_019070, RefSeq RNA:NR_033677, UniProtKB:Q9Y6V7 No chr19 19030484 19039442 18919675 18928633 +PA27228 1655 HGNC:2746 ENSG00000108654 DEAD-box helicase 5 DDX5 DEAD (Asp-Glu-Ala-Asp) box helicase 5 G17P1, HLR1, p68 Yes No Comparative Toxicogenomics Database:1655, Ensembl:ENSG00000108654, GenAtlas:DDX5, GeneCard:DDX5, HGNC:HGNC:2746, HumanCyc Gene:HS03138, ModBase:P17844, NCBI Gene:1655, OMIM:180630, RefSeq DNA:NT_010783, RefSeq Protein:NP_004387, RefSeq RNA:NM_004396, UCSC Genome Browser:NM_004396, UniProtKB:P17844 No chr17 62494374 62503042 64498254 64507038 +PA134948525 79009 HGNC:17906 ENSG00000107625 DExD-box helicase 50 DDX50 DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 GU2, GUB, MGC3199, RH-II/GuB Yes No Comparative Toxicogenomics Database:79009, Ensembl:ENSG00000107625, GeneCard:DDX50, HGNC:HGNC:17906, HumanCyc Gene:HS03014, ModBase:Q9BQ39, NCBI Gene:79009, OMIM:610373, RefSeq DNA:NT_030059, RefSeq Protein:NP_076950, RefSeq RNA:NM_024045, UniProtKB:Q9BQ39 No chr10 70661034 70706603 68901278 68956312 +PA134974036 317781 HGNC:20082 ENSG00000185163 DEAD-box helicase 51 DDX51 DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 Yes No Comparative Toxicogenomics Database:317781, Ensembl:ENSG00000185163, GeneCard:DDX51, HGNC:HGNC:20082, ModBase:Q8N8A6, NCBI Gene:317781, RefSeq DNA:NT_009755, RefSeq Protein:NP_778236, RefSeq RNA:NM_175066, UniProtKB:Q8N8A6 No chr12 132621139 132628880 132136594 132144335 +PA134904836 11056 HGNC:20038 ENSG00000278053 DExD-box helicase 52 DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 ROK1 Yes No Comparative Toxicogenomics Database:11056, Ensembl:ENSG00000278053, GeneCard:DDX52, HGNC:HGNC:20038, HumanCyc Gene:HS06803, ModBase:Q9Y2R4, NCBI Gene:11056, OMIM:612500, RefSeq DNA:NT_010783, RefSeq Protein:NP_008941, RefSeq Protein:NP_689513, RefSeq RNA:NM_007010, RefSeq RNA:NM_152300, UniProtKB:A8MTP9, UniProtKB:Q9Y2R4 No chr17 35972363 36003493 37609739 37643464 +PA134863598 168400 HGNC:20083 ENSG00000184735 DEAD-box helicase 53 DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53, cancer associated gene, cancer/testis antigen 26 CAGE, CT26 Yes Yes Ensembl:ENSG00000184735, GeneCard:DDX53, HGNC:HGNC:20083, ModBase:Q86TM3, NCBI Gene:168400, RefSeq DNA:NG_021439, RefSeq DNA:NT_167197, RefSeq Protein:NP_874358, RefSeq RNA:NM_182699, UniProtKB:Q86TM3 No chrX 23018078 23020206 22999961 23002089 +PA134992026 79039 HGNC:20084 ENSG00000123064 DEAD-box helicase 54 DDX54 """DEAD (Asp-Glu-Ala-Asp) box polypeptide 54"", ""DEAD box polypeptide, 97kD"", ""apoptosis related protein 5""" APR-5, DP97, MGC2835 Yes No Comparative Toxicogenomics Database:79039, Ensembl:ENSG00000123064, GeneCard:DDX54, HGNC:HGNC:20084, HumanCyc Gene:HS04622, ModBase:Q8TDD1, NCBI Gene:79039, OMIM:611665, RefSeq DNA:NT_009775, RefSeq Protein:NP_001104792, RefSeq Protein:NP_076977, RefSeq RNA:NM_001111322, RefSeq RNA:NM_024072, UniProtKB:B9ZVP3, UniProtKB:Q8TDD1 No chr12 113594978 113623284 113157173 113185479 +PA134984021 57696 HGNC:20085 ENSG00000111364 DEAD-box helicase 55 DDX55 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 KIAA1595 Yes No Ensembl:ENSG00000111364, GeneCard:DDX55, HGNC:HGNC:20085, ModBase:Q8NHQ9, NCBI Gene:57696, RefSeq DNA:NT_009755, RefSeq Protein:NP_065987, RefSeq RNA:NM_020936, UniProtKB:Q8NHQ9, UniProtKB:Q8TEC9 No chr12 124086650 124105482 123602077 123620943 +PA134916346 54606 HGNC:18193 ENSG00000136271 DEAD-box helicase 56 DDX56 DEAD (Asp-Glu-Ala-Asp) box helicase 56, nucleolar helicase of 61 kDa NOH61 Yes No Comparative Toxicogenomics Database:54606, Ensembl:ENSG00000136271, GeneCard:DDX56, HGNC:HGNC:18193, HumanCyc Gene:HS06143, ModBase:Q9NY93, NCBI Gene:54606, OMIM:608023, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_061955, RefSeq RNA:NM_019082, UniProtKB:Q9NY93 No chr7 44605016 44614542 44565417 44574538 +PA142672000 83479 HGNC:25360 ENSG00000118197 DEAD-box helicase 59 DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59, zinc finger HIT-type containing 5 DKFZP564B1023, ZNHIT5 Yes No Comparative Toxicogenomics Database:83479, Ensembl:ENSG00000118197, GeneCard:DDX59, HGNC:HGNC:25360, HumanCyc Gene:HS04200, ModBase:Q5T1V6, NCBI Gene:83479, RefSeq DNA:NT_004487, RefSeq Protein:NP_001026895, RefSeq RNA:NM_001031725, UniProtKB:Q5T1V6 No chr1 200609935 200639126 200640807 200669998 +PA27229 1656 HGNC:2747 ENSG00000110367 DEAD-box helicase 6 DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6 HLR2, RCK, Rck/p54 Yes No Comparative Toxicogenomics Database:1656, Ensembl:ENSG00000110367, GenAtlas:DDX6, GeneCard:DDX6, HGNC:HGNC:2747, HumanCyc Gene:HS03304, ModBase:P26196, NCBI Gene:1656, OMIM:600326, RefSeq DNA:NT_033899, RefSeq Protein:NP_004388, RefSeq RNA:NM_004397, UCSC Genome Browser:NM_004397, UniProtKB:P26196 No chr11 118618472 118661972 118747763 118791263 +PA162383444 55601 HGNC:25942 ENSG00000137628 DExD/H-box helicase 60 DDX60 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 FLJ20035 Yes No Ensembl:ENSG00000137628, GeneCard:DDX60, HGNC:HGNC:25942, HumanCyc Gene:HS13687, NCBI Gene:55601, RefSeq DNA:NT_016354, RefSeq Protein:NP_060101, RefSeq RNA:NM_017631, UniProtKB:Q6B0F7, UniProtKB:Q8IY21, UniProtKB:Q9H616, UniProtKB:Q9NXV7 No chr4 169137442 169239958 168216291 168318807 +PA162383445 91351 HGNC:26429 ENSG00000181381 DExD/H-box 60 like DDX60L DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like FLJ31033 Yes No Ensembl:ENSG00000181381, GeneCard:DDX60L, HGNC:HGNC:26429, ModBase:Q5H9U9, NCBI Gene:91351, RefSeq DNA:NT_016354, RefSeq Protein:NP_001012985, RefSeq RNA:NM_001012967, UniProtKB:Q5H9U9 No chr4 169277886 169401665 168356735 168480514 +PA166352461 HGNC:2748 DEAD (Asp-Glu-Ala-Asp) box polypeptide 7 DDX7 Yes No HGNC:HGNC:2748 No 0 0 0 0 +PA27234 10522 HGNC:14677 ENSG00000177030 DEAF1 transcription factor DEAF1 NUDR, SPN, ZMYND5 Yes Yes Comparative Toxicogenomics Database:10522, Ensembl:ENSG00000177030, GenAtlas:DEAF1, GeneCard:DEAF1, HGNC:HGNC:14677, HumanCyc Gene:HS11120, ModBase:O75513, NCBI Gene:10522, OMIM:602635, RefSeq DNA:NT_009237, RefSeq Protein:NP_066288, RefSeq RNA:NM_021008, UCSC Genome Browser:NM_021008, UniProtKB:O75398 No chr11 644225 695740 644220 695754 +PA141 1666 HGNC:2753 ENSG00000104325 2,4-dienoyl-CoA reductase 1 DECR1 """2,4-dienoyl CoA reductase 1, mitochondrial"", ""short chain dehydrogenase/reductase family 18C, member 1""" DECR, SDR18C1 Yes No Comparative Toxicogenomics Database:1666, Ensembl:ENSG00000104325, GenAtlas:DECR1, GeneCard:DECR1, HGNC:HGNC:2753, HumanCyc Gene:HS02565, ModBase:Q16698, NCBI Gene:1666, OMIM:222745, RefSeq DNA:NG_008042, RefSeq DNA:NT_008046, RefSeq Protein:NP_001350, RefSeq RNA:NM_001359, UCSC Genome Browser:NM_001359, UniProtKB:Q16698 No chr8 91013580 91064232 90001337 90052004 +PA27235 26063 HGNC:2754 ENSG00000242612 2,4-dienoyl-CoA reductase 2 DECR2 """2,4-dienoyl CoA reductase 2, peroxisomal"", ""short chain dehydrogenase/reductase family 17C, member 1""" PDCR, SDR17C1 Yes No Comparative Toxicogenomics Database:26063, Ensembl:ENSG00000242612, GenAtlas:DECR2, GeneCard:DECR2, HGNC:HGNC:2754, HumanCyc Gene:HS02474, ModBase:Q9NUI1, NCBI Gene:26063, RefSeq DNA:NT_010393, RefSeq Protein:NP_065715, RefSeq RNA:NM_020664, UCSC Genome Browser:NM_020664, UniProtKB:Q9NUI1 No chr16 451858 462487 401858 412487 +PA27236 9191 HGNC:2755 ENSG00000158796 death effector domain containing DEDD CASP8IP1, DEDD1, DEFT, FLDED1, KE05 Yes No Comparative Toxicogenomics Database:9191, Ensembl:ENSG00000158796, GenAtlas:DEDD, GeneCard:DEDD, HGNC:HGNC:2755, HumanCyc Gene:HS08331, ModBase:O75618, NCBI Gene:9191, OMIM:606841, RefSeq DNA:NT_004487, RefSeq Protein:NP_001034800, RefSeq Protein:NP_001034801, RefSeq Protein:NP_127491, RefSeq RNA:NM_001039711, RefSeq RNA:NM_001039712, RefSeq RNA:NM_032998, UCSC Genome Browser:NM_004216, UniProtKB:O75618 No chr1 161090767 161103192 161120977 161132783 +PA134912744 162989 HGNC:24450 ENSG00000160570 death effector domain containing 2 DEDD2 FLAME-3 Yes No Comparative Toxicogenomics Database:162989, Ensembl:ENSG00000160570, GeneCard:DEDD2, HGNC:HGNC:24450, HumanCyc Gene:HS08507, ModBase:Q8WXF8, NCBI Gene:162989, RefSeq DNA:NT_011109, RefSeq Protein:NP_579874, RefSeq RNA:NM_133328, UniProtKB:Q8WXF8 No chr19 42702745 42724304 42198593 42220152 +PA27237 50619 HGNC:2760 ENSG00000023892 DEF6 guanine nucleotide exchange factor DEF6 """DEF6, guanine nucleotide exchange factor"", ""SWAP-70-like adaptor protein of T cells"", ""differentially expressed in FDCP 6 homolog (mouse)""" IBP, SLAT, SWAP70L Yes No Comparative Toxicogenomics Database:50619, Ensembl:ENSG00000023892, GenAtlas:DEF6, GeneCard:DEF6, HGNC:HGNC:2760, HumanCyc Gene:HS00433, ModBase:Q9H4E7, NCBI Gene:50619, OMIM:610094, RefSeq DNA:NT_007592, RefSeq Protein:NP_071330, RefSeq RNA:NM_022047, UCSC Genome Browser:NM_022047, UniProtKB:Q9H4E7 No chr6 35265595 35289548 35297818 35321771 +PA162383526 54849 HGNC:25969 ENSG00000140995 differentially expressed in FDCP 8 homolog DEF8 differentially expressed in FDCP 8 homolog (mouse) FLJ20186 Yes No Ensembl:ENSG00000140995, GeneCard:DEF8, HGNC:HGNC:25969, HumanCyc Gene:HS06789, ModBase:Q6ZN54, NCBI Gene:54849, RefSeq DNA:NT_010542, RefSeq Protein:NP_001229745, RefSeq Protein:NP_001229746, RefSeq Protein:NP_001229747, RefSeq Protein:NP_001229748, RefSeq Protein:NP_001229749, RefSeq Protein:NP_001229750, RefSeq Protein:NP_001229751, RefSeq Protein:NP_060172, RefSeq Protein:NP_997397, RefSeq RNA:NM_001242816, RefSeq RNA:NM_001242817, RefSeq RNA:NM_001242818, RefSeq RNA:NM_001242819, RefSeq RNA:NM_001242820, RefSeq RNA:NM_001242821, RefSeq RNA:NM_001242822, RefSeq RNA:NM_017702, RefSeq RNA:NM_207514, UniProtKB:Q6ZN54 No chr16 90014560 90034468 89948697 89968060 +PA27238 1667 HGNC:2761 ENSG00000206047, ENSG00000240247 defensin alpha 1 DEFA1 defensin, alpha 1 DEF1, DEFA2, HNP-1, MRS Yes No Comparative Toxicogenomics Database:1667, Ensembl:ENSG00000206047, Ensembl:ENSG00000240247, GenAtlas:DEFA1, GeneCard:DEFA1, HGNC:HGNC:2761, HumanCyc Gene:HS10650, ModBase:P59665, NCBI Gene:1667, OMIM:125220, RefSeq DNA:NT_023736, RefSeq Protein:NP_004075, RefSeq RNA:NM_004084, UCSC Genome Browser:NM_004084 No chr8 6835171 6837614 6977649 6980119 +PA134938428 449493 HGNC:31801 ENSG00000233531 defensin, alpha 10 pseudogene DEFA10P Yes No Ensembl:ENSG00000233531, GeneCard:DEFA10P, HGNC:HGNC:31801, NCBI Gene:449493, RefSeq DNA:NG_005909, RefSeq DNA:NT_023736, RefSeq RNA:NR_029386 No chr8 6825663 6826635 6968141 6969113 +PA142672001 613253 HGNC:32231 defensin, alpha 1 and alpha 3, variable copy number locus DEFA1A3 DEFA1, DEFA3, DEFT1P Yes No GeneCard:DEFA1A3, HGNC:HGNC:32231, NCBI Gene:613253 No chr8 +PA165585475 728358 HGNC:33596 ENSG00000206047, ENSG00000240247 defensin alpha 1B DEFA1B defensin, alpha 1B Yes No Ensembl:ENSG00000206047, Ensembl:ENSG00000240247, GeneCard:DEFA1B, HGNC:HGNC:33596, NCBI Gene:728358, RefSeq DNA:NT_023736, RefSeq Protein:NP_001035965, RefSeq RNA:NM_001042500, UniProtKB:P59665, UniProtKB:Q6EZF6 No chr8 6854288 6856724 6996766 6999202 +PA27239 1668 HGNC:2762 ENSG00000239839 defensin alpha 3 DEFA3 defensin, alpha 3, neutrophil-specific DEF3, HNP-3 Yes No Comparative Toxicogenomics Database:1668, Ensembl:ENSG00000239839, GenAtlas:DEFA3, GeneCard:DEFA3, HGNC:HGNC:2762, ModBase:P59666, NCBI Gene:1668, OMIM:604522, RefSeq DNA:NT_023736, RefSeq Protein:NP_005208, RefSeq RNA:NM_005217, UCSC Genome Browser:NM_005217, UniProtKB:P59666, UniProtKB:Q6EZE9 No chr8 6873391 6875816 7015869 7018336 +PA27240 1669 HGNC:2763 ENSG00000164821 defensin alpha 4 DEFA4 defensin, alpha 4, corticostatin DEF4, HP-4 Yes No Comparative Toxicogenomics Database:1669, Ensembl:ENSG00000164821, GenAtlas:DEFA4, GeneCard:DEFA4, HGNC:HGNC:2763, HumanCyc Gene:HS09141, ModBase:P12838, NCBI Gene:1669, OMIM:601157, RefSeq DNA:NT_023736, RefSeq Protein:NP_001916, RefSeq RNA:NM_001925, UCSC Genome Browser:NM_001925, UniProtKB:P12838, UniProtKB:Q6EZF8 No chr8 6793345 6795786 6935820 6938338 +PA27241 1670 HGNC:2764 ENSG00000164816 defensin alpha 5 DEFA5 defensin, alpha 5, Paneth cell-specific DEF5, HD-5 Yes No Ensembl:ENSG00000164816, GenAtlas:DEFA5, GeneCard:DEFA5, HGNC:HGNC:2764, HumanCyc Gene:HS09140, ModBase:Q01523, NCBI Gene:1670, OMIM:600472, RefSeq DNA:NT_023736, RefSeq Protein:NP_066290, RefSeq RNA:NM_021010, UCSC Genome Browser:NM_021010, UniProtKB:A0JDY6, UniProtKB:Q01523 No chr8 6912829 6914259 7055300 7056739 +PA27242 1671 HGNC:2765 ENSG00000164822 defensin alpha 6 DEFA6 defensin, alpha 6, Paneth cell-specific DEF6, HD-6 Yes No Ensembl:ENSG00000164822, GenAtlas:DEFA6, GeneCard:DEFA6, HGNC:HGNC:2765, HumanCyc Gene:HS09142, NCBI Gene:1671, OMIM:600471, RefSeq DNA:NT_023736, RefSeq Protein:NP_001917, RefSeq RNA:NM_001926, UCSC Genome Browser:NM_001926, UniProtKB:Q01524, UniProtKB:Q6EZF9 No chr8 6782216 6783598 6924694 6926076 +PA166352462 HGNC:24815 defensin, alpha 8 DEFA8 Yes No HGNC:HGNC:24815 No 0 0 0 0 +PA134967483 449491 HGNC:31799 ENSG00000223629 defensin, alpha 8 pseudogene DEFA8P DEFAP1 Yes No Ensembl:ENSG00000223629, GeneCard:DEFA8P, HGNC:HGNC:31799, NCBI Gene:449491, RefSeq DNA:NG_005044, RefSeq DNA:NT_023736 No chr8 6808248 6809121 6950726 6951599 +PA134993566 449492 HGNC:31800 ENSG00000233238 defensin, alpha 9 pseudogene DEFA9P DEFAP2 Yes No Ensembl:ENSG00000233238, GeneCard:DEFA9P, HGNC:HGNC:31800, NCBI Gene:449492, RefSeq DNA:NG_008304, RefSeq DNA:NT_023736 No chr8 6816811 6817683 6959289 6960161 +PA27243 1672 HGNC:2766 ENSG00000164825 defensin beta 1 DEFB1 """beta defensin 1"", ""beta-defensin 1"", ""defensin, beta 1""" BD1, DEFB-1, DEFB101, HBD-1, HBD1, MGC51822 Yes No Comparative Toxicogenomics Database:1672, Ensembl:ENSG00000164825, GenAtlas:DEFB1, GeneCard:DEFB1, HGNC:HGNC:2766, HumanCyc Gene:HS09144, ModBase:P60022, NCBI Gene:1672, OMIM:602056, RefSeq DNA:NT_023736, RefSeq Protein:NP_005209, RefSeq RNA:NM_005218, UCSC Genome Browser:NM_005218, UniProtKB:P60022 No chr8 6728097 6735529 6870575 6878007 +PA27244 414325 HGNC:15967 ENSG00000176797, ENSG00000177243 defensin beta 103A DEFB103A """beta defensin 3"", ""beta defensin-3"", ""beta-defensin 3"", ""defensin, beta 103A""" DEFB-3, DEFB103, DEFB3, HBD-3, HBD3, HBP-3, HBP3 Yes No Ensembl:ENSG00000176797, Ensembl:ENSG00000177243, GenAtlas:DEFB103A, GeneCard:DEFB103A, HGNC:HGNC:15967, NCBI Gene:414325, RefSeq DNA:NT_077531, RefSeq Protein:NP_001075020, RefSeq RNA:NM_001081551, UCSC Genome Browser:NM_018661 No chr8 7738726 7740105 7881204 7882664 +PA134933952 55894 HGNC:31702 ENSG00000176797, ENSG00000177243 defensin beta 103B DEFB103B defensin, beta 103B Yes No Ensembl:ENSG00000176797, Ensembl:ENSG00000177243, GeneCard:DEFB103B, HGNC:HGNC:31702, HumanCyc Gene:HS11088, HumanCyc Gene:HS11145, NCBI Gene:55894, OMIM:606611, RefSeq DNA:NT_023736, RefSeq Protein:NP_061131, RefSeq RNA:NM_018661, UniProtKB:P81534 No chr8 7286410 7287682 7428888 7430348 +PA38506 140596 HGNC:18115 ENSG00000176782, ENSG00000177023 defensin beta 104A DEFB104A defensin, beta 104A DEFB-4, DEFB104, DEFB4 Yes No Ensembl:ENSG00000176782, Ensembl:ENSG00000177023, GenAtlas:DEFB104A, GeneCard:DEFB104A, HGNC:HGNC:18115, HumanCyc Gene:HS11083, HumanCyc Gene:HS11118, NCBI Gene:140596, RefSeq DNA:NG_005590, RefSeq DNA:NT_077531, RefSeq Protein:NP_525128, RefSeq RNA:NM_080389, UCSC Genome Browser:NM_080389 No chr8 7693993 7698764 7836471 7841242 +PA142671990 503618 HGNC:26165 ENSG00000176782, ENSG00000177023 defensin beta 104B DEFB104B defensin, beta 104B Yes No Ensembl:ENSG00000176782, Ensembl:ENSG00000177023, GeneCard:DEFB104B, HGNC:HGNC:26165, NCBI Gene:503618, RefSeq DNA:NG_005589, RefSeq DNA:NT_023736, RefSeq Protein:NP_001035792, RefSeq RNA:NM_001040702, UniProtKB:Q8WTQ1 No chr8 7327830 7332604 7470308 7475082 +PA38483 245908 HGNC:18087 ENSG00000186562, ENSG00000186599 defensin beta 105A DEFB105A defensin, beta 105A DEFB-5, DEFB105 Yes No Ensembl:ENSG00000186562, Ensembl:ENSG00000186599, GenAtlas:DEFB105A, GeneCard:DEFB105A, HGNC:HGNC:18087, NCBI Gene:245908, RefSeq DNA:NG_005590, RefSeq DNA:NT_077531, RefSeq Protein:NP_689463, RefSeq RNA:NM_152250, UCSC Genome Browser:NM_152250 No chr8 7679530 7681360 7821966 7823890 +PA142671991 504180 HGNC:29930 ENSG00000186562, ENSG00000186599 defensin beta 105B DEFB105B defensin, beta 105B Yes No Ensembl:ENSG00000186562, Ensembl:ENSG00000186599, GeneCard:DEFB105B, HGNC:HGNC:29930, NCBI Gene:504180, RefSeq DNA:NG_005589, RefSeq DNA:NT_023736, RefSeq Protein:NP_001035793, RefSeq RNA:NM_001040703, UniProtKB:Q8NG35 No chr8 7345243 7347073 7487669 7489593 +PA38484 245909 HGNC:18088 ENSG00000186579, ENSG00000187082 defensin beta 106A DEFB106A defensin, beta 106A DEFB-6, DEFB106 Yes No Ensembl:ENSG00000186579, Ensembl:ENSG00000187082, GenAtlas:DEFB106A, GeneCard:DEFB106A, HGNC:HGNC:18088, NCBI Gene:245909, RefSeq DNA:NG_005590, RefSeq DNA:NT_077531, RefSeq Protein:NP_689464, RefSeq RNA:NM_152251, UCSC Genome Browser:NM_152251 No chr8 7682694 7686575 7825172 7829053 +PA142671992 503841 HGNC:28879 ENSG00000186579, ENSG00000187082 defensin beta 106B DEFB106B defensin, beta 106B Yes No Ensembl:ENSG00000186579, Ensembl:ENSG00000187082, GeneCard:DEFB106B, HGNC:HGNC:28879, NCBI Gene:503841, RefSeq DNA:NG_005589, RefSeq DNA:NT_023736, RefSeq Protein:NP_001035794, RefSeq RNA:NM_001040704, UniProtKB:Q8N104 No chr8 7340026 7343909 7482504 7486387 +PA38482 245910 HGNC:18086 ENSG00000186572, ENSG00000198129 defensin beta 107A DEFB107A defensin, beta 107A DEFB-7, DEFB107 Yes No Ensembl:ENSG00000186572, Ensembl:ENSG00000198129, GenAtlas:DEFB107A, GeneCard:DEFB107A, HGNC:HGNC:18086, NCBI Gene:245910, RefSeq DNA:NG_005590, RefSeq DNA:NT_077531, RefSeq Protein:NP_001032757, RefSeq RNA:NM_001037668 No chr8 7669242 7673238 7811720 7815716 +PA142671993 503614 HGNC:31918 ENSG00000186572, ENSG00000198129 defensin beta 107B DEFB107B defensin, beta 107B HsT21816 Yes No Ensembl:ENSG00000186572, Ensembl:ENSG00000198129, GeneCard:DEFB107B, HGNC:HGNC:31918, NCBI Gene:503614, RefSeq DNA:NG_005589, RefSeq DNA:NT_023736, RefSeq Protein:NP_001035795, RefSeq RNA:NM_001040705, UniProtKB:Q8IZN7 No chr8 7353368 7366833 7495846 7509311 +PA142671994 245911 HGNC:29966 ENSG00000184276 defensin beta 108B DEFB108B defensin, beta 108B Yes No Ensembl:ENSG00000184276, GeneCard:DEFB108B, HGNC:HGNC:29966, ModBase:Q8NET1, NCBI Gene:245911, RefSeq DNA:NT_167190, RefSeq Protein:NP_001002035, RefSeq RNA:NM_001002035, UniProtKB:Q8NET1 No chr11 71544246 71548608 71833200 71837562 +PA166352463 641517 HGNC:33469 defensin beta 109B DEFB109B DEFB109P1B Yes No HGNC:HGNC:33469, NCBI Gene:641517 No 0 0 0 0 +PA38487 245913 HGNC:18091 ENSG00000203970 defensin beta 110 DEFB110 defensin, beta 110 locus DEFB-10, DEFB-11, DEFB111 Yes No Ensembl:ENSG00000203970, GenAtlas:DEFB110, GeneCard:DEFB110, HGNC:HGNC:18091, ModBase:Q30KR0, NCBI Gene:245913, RefSeq DNA:NT_007592, RefSeq Protein:NP_001032586, RefSeq Protein:NP_001032817, RefSeq RNA:NM_001037497, RefSeq RNA:NM_001037728, UniProtKB:Q30KQ9 No chr6 49976851 49989694 50009138 50021981 +PA38489 245915 HGNC:18093 ENSG00000180872 defensin beta 112 DEFB112 defensin, beta 112 DEFB-12 Yes No Ensembl:ENSG00000180872, GenAtlas:DEFB112, GeneCard:DEFB112, HGNC:HGNC:18093, HumanCyc Gene:HS17582, NCBI Gene:245915, RefSeq DNA:NT_007592, RefSeq Protein:NP_001032587, RefSeq RNA:NM_001037498, UniProtKB:Q30KQ8 No chr6 50011288 50016364 50043575 50048651 +PA38490 245927 HGNC:18094 ENSG00000214642 defensin beta 113 DEFB113 defensin, beta 113 DEFB-13 Yes No Ensembl:ENSG00000214642, GenAtlas:DEFB113, GeneCard:DEFB113, HGNC:HGNC:18094, ModBase:Q30KQ7, NCBI Gene:245927, RefSeq DNA:NT_007592, RefSeq Protein:NP_001032818, RefSeq RNA:NM_001037729, UniProtKB:Q30KQ7 No chr6 49936390 49937338 49968677 49969625 +PA38491 245928 HGNC:18095 ENSG00000177684 defensin beta 114 DEFB114 defensin, beta 114 DEFB-14 Yes No Ensembl:ENSG00000177684, GenAtlas:DEFB114, GeneCard:DEFB114, HGNC:HGNC:18095, HumanCyc Gene:HS16901, ModBase:Q30KQ6, NCBI Gene:245928, RefSeq DNA:NT_007592, RefSeq Protein:NP_001032588, RefSeq RNA:NM_001037499, UniProtKB:Q30KQ6 No chr6 49928005 49931818 49960292 49964105 +PA38492 245929 HGNC:18096 ENSG00000215547 defensin beta 115 DEFB115 defensin, beta 115 DEFB-15 Yes No Ensembl:ENSG00000215547, GenAtlas:DEFB115, GeneCard:DEFB115, HGNC:HGNC:18096, ModBase:Q30KQ5, NCBI Gene:245929, RefSeq DNA:NT_011362, RefSeq Protein:NP_001032819, RefSeq RNA:NM_001037730, UniProtKB:Q30KQ5 No chr20 29845467 29847435 31257664 31259632 +PA38493 245930 HGNC:18097 ENSG00000215545 defensin beta 116 DEFB116 """defensin, beta 116"", ""defensin, beta 16""" DEFB-16 Yes No Ensembl:ENSG00000215545, GenAtlas:DEFB116, GeneCard:DEFB116, HGNC:HGNC:18097, ModBase:Q30KQ4, NCBI Gene:245930, RefSeq DNA:NT_011362, RefSeq Protein:NP_001032820, RefSeq RNA:NM_001037731, UniProtKB:Q30KQ4 No chr20 29891015 29896388 31303212 31308585 +PA38494 245931 HGNC:18098 ENSG00000212717 defensin, beta 117 DEFB117 defensin, beta 17 DEFB-17 Yes No Ensembl:ENSG00000212717, GenAtlas:DEFB117, GeneCard:DEFB117, HGNC:HGNC:18098, NCBI Gene:245931, RefSeq DNA:NT_011362, RefSeq Protein:XP_002343769, RefSeq Protein:XP_002345451, RefSeq Protein:XP_002348092, RefSeq RNA:XM_002343728, RefSeq RNA:XM_002345410, RefSeq RNA:XM_002348051 No chr20 29948578 29948706 31360775 31360903 +PA27245 117285 HGNC:16196 ENSG00000131068 defensin beta 118 DEFB118 defensin, beta 118 C20orf63, DEFB-18, ESC42, dJ1018D12.3 Yes No Ensembl:ENSG00000131068, GenAtlas:DEFB118, GeneCard:DEFB118, HGNC:HGNC:16196, HumanCyc Gene:HS05483, ModBase:Q96PH6, NCBI Gene:117285, OMIM:607650, RefSeq DNA:NT_011362, RefSeq Protein:NP_473453, RefSeq RNA:NM_054112, UCSC Genome Browser:NM_054112, UniProtKB:Q96PH6 No chr20 29956421 29961726 31368618 31373923 +PA38495 245932 HGNC:18099 ENSG00000180483 defensin beta 119 DEFB119 defensin, beta 119 DEFB-19, DEFB-20, DEFB120 Yes No Ensembl:ENSG00000180483, GenAtlas:DEFB119, GeneCard:DEFB119, HGNC:HGNC:18099, ModBase:Q8N690, NCBI Gene:245932, RefSeq DNA:NT_011362, RefSeq Protein:NP_695021, RefSeq Protein:NP_697018, RefSeq Protein:NP_775689, RefSeq RNA:NM_153289, RefSeq RNA:NM_153323, RefSeq RNA:NM_173460, UCSC Genome Browser:NM_153289, UniProtKB:Q5TH42, UniProtKB:Q8N690 No chr20 29964966 29978452 31377163 31390649 +PA38497 245934 HGNC:18101 ENSG00000204548 defensin beta 121 DEFB121 """defensin, beta 121"", ""defensin, beta 21""" DEFB-21 Yes No Ensembl:ENSG00000204548, GenAtlas:DEFB121, GeneCard:DEFB121, HGNC:HGNC:18101, ModBase:Q5J5C9, NCBI Gene:245934, RefSeq DNA:NT_011362, RefSeq Protein:NP_001011878, RefSeq Protein:NP_001165303, RefSeq RNA:NM_001011878, RefSeq RNA:NM_001171832, UniProtKB:Q5GRF9, UniProtKB:Q5J5C9 No chr20 29992648 30006314 31404845 31418522 +PA38498 245935 HGNC:18102 ENSG00000204547 defensin, beta 122 (pseudogene) DEFB122 DEFB-22, DEFB122P Yes No Ensembl:ENSG00000204547, GenAtlas:DEFB122, GeneCard:DEFB122, HGNC:HGNC:18102, NCBI Gene:245935, RefSeq DNA:NT_011362, RefSeq RNA:NR_002577 No chr20 30009242 30016983 31421439 31429180 +PA38499 245936 HGNC:18103 ENSG00000180424 defensin beta 123 DEFB123 """beta defensin 23"", ""defensin, beta 123""" DEFB-23 Yes No Ensembl:ENSG00000180424, GenAtlas:DEFB123, GeneCard:DEFB123, HGNC:HGNC:18103, HumanCyc Gene:HS11490, ModBase:Q8N688, NCBI Gene:245936, RefSeq DNA:NT_011362, RefSeq Protein:NP_697019, RefSeq RNA:NM_153324, UCSC Genome Browser:NM_153324, UniProtKB:Q5GRF8, UniProtKB:Q8N688 No chr20 30028411 30038060 31440519 31450257 +PA38500 245937 HGNC:18104 ENSG00000180383 defensin beta 124 DEFB124 """defensin, beta 124"", ""defensin, beta 24""" DEFB-24 Yes No Ensembl:ENSG00000180383, GenAtlas:DEFB124, GeneCard:DEFB124, HGNC:HGNC:18104, HumanCyc Gene:HS17494, ModBase:Q8NES8, NCBI Gene:245937, RefSeq DNA:NT_011362, RefSeq Protein:NP_001032589, RefSeq RNA:NM_001037500, UniProtKB:Q8NES8 No chr20 30053309 30060816 31465461 31475218 +PA38501 245938 HGNC:18105 ENSG00000178591 defensin beta 125 DEFB125 """beta defensin 25"", ""defensin, beta 125""" DEFB-25 Yes No Ensembl:ENSG00000178591, GenAtlas:DEFB125, GeneCard:DEFB125, HGNC:HGNC:18105, HumanCyc Gene:HS11300, ModBase:Q8N687, NCBI Gene:245938, RefSeq DNA:NT_011387, RefSeq Protein:NP_697020, RefSeq RNA:NM_153325, UCSC Genome Browser:NM_153325, UniProtKB:Q8N687 No chr20 68351 77296 87672 96573 +PA27246 81623 HGNC:15900 ENSG00000125788 defensin beta 126 DEFB126 defensin, beta 126 C20orf8, DEFB-26, bA530N10.1 Yes No Ensembl:ENSG00000125788, GenAtlas:DEFB126, GeneCard:DEFB126, HGNC:HGNC:15900, HumanCyc Gene:HS04933, NCBI Gene:81623, RefSeq DNA:NT_011387, RefSeq Protein:NP_112193, RefSeq RNA:NM_030931, UCSC Genome Browser:NM_030931, UniProtKB:Q9BYW3 No chr20 123194 126392 142553 145751 +PA27247 140850 HGNC:16206 ENSG00000088782 defensin beta 127 DEFB127 defensin, beta 127 C20orf73, DEF-27, bA530N10.2 Yes No Ensembl:ENSG00000088782, GenAtlas:DEFB127, GeneCard:DEFB127, HGNC:HGNC:16206, HumanCyc Gene:HS01607, ModBase:Q9H1M4, NCBI Gene:140850, RefSeq DNA:NT_011387, RefSeq Protein:NP_620713, RefSeq RNA:NM_139074, UCSC Genome Browser:NM_139074, UniProtKB:Q9H1M4 No chr20 138111 139804 157470 159163 +PA38502 245939 HGNC:18106 ENSG00000185982 defensin beta 128 DEFB128 """defensin, beta 128"", ""defensin, beta 28""" DEFB-28 Yes No Ensembl:ENSG00000185982, GenAtlas:DEFB128, GeneCard:DEFB128, HGNC:HGNC:18106, ModBase:Q7Z7B8, NCBI Gene:245939, RefSeq DNA:NT_011387, RefSeq Protein:NP_001032821, RefSeq RNA:NM_001037732, UniProtKB:Q7Z7B8 No chr20 168527 170264 187853 189681 +PA27248 140881 HGNC:16218 ENSG00000125903 defensin beta 129 DEFB129 defensin, beta 129 C20orf87, DEFB-29, bA530N10.3 Yes No Ensembl:ENSG00000125903, GenAtlas:DEFB129, GeneCard:DEFB129, HGNC:HGNC:16218, HumanCyc Gene:HS04969, ModBase:Q9H1M3, NCBI Gene:140881, RefSeq DNA:NT_011387, RefSeq Protein:NP_543021, RefSeq RNA:NM_080831, UCSC Genome Browser:NM_080831, UniProtKB:Q9H1M3 No chr20 207899 210527 227258 229886 +PA38503 245940 HGNC:18107 ENSG00000232948, ENSG00000233050 defensin beta 130A DEFB130A defensin, beta 130 DEFB-30, DEFB130, DEFB30 Yes No Ensembl:ENSG00000232948, Ensembl:ENSG00000233050, GenAtlas:DEFB130, GeneCard:DEFB130, HGNC:HGNC:18107, ModBase:Q30KQ2, NCBI Gene:245940, RefSeq DNA:NT_167187, RefSeq Protein:NP_001032893, RefSeq RNA:NM_001037804, UniProtKB:Q30KQ2 No chr8 12168471 12175825 12310962 12318316 +PA166180602 100133267 HGNC:39814 ENSG00000233050 defensin beta 130B DEFB130B Yes No Ensembl:ENSG00000233050, HGNC:HGNC:39814, NCBI Gene:100133267 No 0 0 0 0 +PA38504 644414 HGNC:18108 ENSG00000186146 defensin beta 131A DEFB131A defensin, beta 131 DEFB-31, DEFB131 Yes No Ensembl:ENSG00000186146, GenAtlas:DEFB131, GeneCard:DEFB131, HGNC:HGNC:18108, ModBase:P59861, NCBI Gene:644414, RefSeq DNA:NT_006316, RefSeq Protein:NP_001035538, RefSeq RNA:NM_001040448, UniProtKB:P59861 No chr4 9446260 9452240 9444534 9450514 +PA166180603 100129216 HGNC:38058 ENSG00000225805 defensin beta 131B DEFB131B Yes No Ensembl:ENSG00000225805, HGNC:HGNC:38058, NCBI Gene:100129216 No 0 0 0 0 +PA162383557 400830 HGNC:33806 ENSG00000186458 defensin beta 132 DEFB132 defensin, beta 132 DEFB32, RP5-1103G7.6 Yes No Ensembl:ENSG00000186458, GeneCard:DEFB132, HGNC:HGNC:33806, ModBase:Q7Z7B7, NCBI Gene:400830, RefSeq DNA:NT_011387, RefSeq Protein:NP_997352, RefSeq RNA:NM_207469, UniProtKB:Q7Z7B7 No chr20 238377 241737 257736 261096 +PA134862169 403339 HGNC:31331 ENSG00000214643 defensin beta 133 DEFB133 defensin, beta 133 Yes No Ensembl:ENSG00000214643, GeneCard:DEFB133, HGNC:HGNC:31331, NCBI Gene:403339, RefSeq DNA:NT_007592, RefSeq Protein:NP_001159950, RefSeq Protein:XP_002342643, RefSeq Protein:XP_002345951, RefSeq Protein:XP_002346822, RefSeq RNA:NM_001166478, RefSeq RNA:XM_002342602, RefSeq RNA:XM_002345910, RefSeq RNA:XM_002346781, UniProtKB:Q30KQ1 No chr6 49913814 49917157 49946101 49949444 +PA164718735 613211 HGNC:32399 ENSG00000205882 defensin beta 134 DEFB134 defensin, beta 134 Yes No Ensembl:ENSG00000205882, GeneCard:DEFB134, HGNC:HGNC:32399, NCBI Gene:613211, RefSeq DNA:NT_077531, RefSeq Protein:NP_001028191, RefSeq RNA:NM_001033019, UniProtKB:Q4QY38 No chr8 11851489 11853760 11993174 12000752 +PA165585476 613209 HGNC:32400 ENSG00000205883 defensin beta 135 DEFB135 defensin, beta 135 Yes No Ensembl:ENSG00000205883, GeneCard:DEFB135, HGNC:HGNC:32400, NCBI Gene:613209, RefSeq DNA:NT_077531, RefSeq Protein:NP_001028189, RefSeq RNA:NM_001033017, UniProtKB:Q30KP9 No chr8 11839830 11842099 11982321 11984590 +PA165585543 613210 HGNC:34433 ENSG00000205884 defensin beta 136 DEFB136 defensin, beta 136 DEFB137 Yes No Ensembl:ENSG00000205884, GeneCard:DEFB136, HGNC:HGNC:34433, NCBI Gene:613210, RefSeq DNA:NT_077531, RefSeq Protein:NP_001028190, RefSeq RNA:NM_001033018, UniProtKB:Q30KP8 No chr8 11831446 11832108 11973937 11974599 +PA27249 1673 HGNC:2767 ENSG00000171711, ENSG00000177257 defensin beta 4A DEFB4A """beta defensin 2"", ""beta defensin-2"", ""beta-defensin 2"", ""defensin, beta 4A""" DEFB-2, DEFB102, DEFB2, DEFB4, HBD-2, SAP1 Yes No Comparative Toxicogenomics Database:1673, Ensembl:ENSG00000171711, Ensembl:ENSG00000177257, GenAtlas:DEFB4, GeneCard:DEFB4, GeneCard:DEFB4A, HGNC:HGNC:2767, HumanCyc Gene:HS10368, HumanCyc Gene:HS11146, ModBase:O15263, NCBI Gene:1673, OMIM:266600, OMIM:602215, RefSeq DNA:NG_023301, RefSeq DNA:NT_077531, RefSeq Protein:NP_004933, RefSeq RNA:NM_004942, UCSC Genome Browser:NM_004942, UniProtKB:O15263 No chr8 7752199 7754237 7894565 7896716 +PA165585559 100289462 HGNC:30193 ENSG00000171711, ENSG00000177257 defensin beta 4B DEFB4B """beta defensin 2"", ""beta defensin-2"", ""beta-defensin 2"", ""defensin, beta 4B""" DEFB4P Yes No Ensembl:ENSG00000171711, Ensembl:ENSG00000177257, GeneCard:DEFB4B, HGNC:HGNC:30193, NCBI Gene:100289462, RefSeq DNA:NT_023736, RefSeq Protein:NP_001192195, RefSeq Protein:XP_002342852, RefSeq RNA:NM_001205266, RefSeq RNA:XM_002342811 No chr8 7272385 7274354 7414863 7416832 +PA38530 170949 HGNC:18339 ENSG00000215378 defensin, theta 1 pseudogene DEFT1P retrocyclin Yes No Ensembl:ENSG00000215378, GenAtlas:DEFT1P, GeneCard:DEFT1P, HGNC:HGNC:18339, NCBI Gene:170949, RefSeq DNA:NG_005042, RefSeq DNA:NT_023736, RefSeq RNA:NR_036686, UCSC Genome Browser:NM_139127 No chr8 6844700 6847243 6987178 6989721 +PA27250 8560 HGNC:13709 ENSG00000143753 delta 4-desaturase, sphingolipid 1 DEGS1 """delta(4)-desaturase, sphingolipid 1"", ""dihydroceramide desaturase 1"", ""sphingolipid delta(4)-desaturase 1""" DEGS-1, DES1, Des-1, FADS7, MLD Yes No Comparative Toxicogenomics Database:8560, Ensembl:ENSG00000143753, GenAtlas:DEGS1, GeneCard:DEGS1, HGNC:HGNC:13709, HumanCyc Gene:HS07099, NCBI Gene:8560, RefSeq DNA:NT_167186, RefSeq Protein:NP_003667, RefSeq Protein:NP_659004, RefSeq RNA:NM_003676, RefSeq RNA:NM_144780, UCSC Genome Browser:NM_003676, UniProtKB:O15121 No chr1 224370910 224381143 224183208 224193441 +PA134973300 123099 HGNC:20113 ENSG00000168350 delta 4-desaturase, sphingolipid 2 DEGS2 """delta(4)-desaturase, sphingolipid 2"", ""dihydroceramide desaturase 2"", ""sphingolipid delta(4)-desaturase 2""" C14orf66, DES2, FADS8 Yes No Ensembl:ENSG00000168350, GeneCard:DEGS2, HGNC:HGNC:20113, NCBI Gene:123099, OMIM:610862, RefSeq DNA:NT_026437, RefSeq Protein:NP_996801, RefSeq RNA:NM_206918, UniProtKB:Q6QHC5 No chr14 100612753 100626012 100146416 100166886 +PA27251 7913 HGNC:2768 ENSG00000124795 DEK proto-oncogene DEK DEK oncogene D6S231E Yes No Comparative Toxicogenomics Database:7913, Ensembl:ENSG00000124795, GenAtlas:DEK, GeneCard:DEK, HGNC:HGNC:2768, HumanCyc Gene:HS04837, NCBI Gene:7913, OMIM:125264, RefSeq DNA:NT_007592, RefSeq Protein:NP_001128181, RefSeq Protein:NP_003463, RefSeq RNA:NM_001134709, RefSeq RNA:NM_003472, UCSC Genome Browser:NM_003472, UniProtKB:B4DN37, UniProtKB:P35659 No chr6 18224400 18264799 18224169 18264568 +PA134992099 9812 HGNC:28969 ENSG00000081791 DAP3 binding cell death enhancer 1 DELE1 death ligand signal enhancer DELE, KIAA0141 Yes No Ensembl:ENSG00000081791, GeneCard:KIAA0141, HGNC:HGNC:28969, HumanCyc Gene:HS12264, ModBase:Q14154, NCBI Gene:9812, RefSeq DNA:NT_029289, RefSeq Protein:NP_001136075, RefSeq Protein:NP_055588, RefSeq RNA:NM_001142603, RefSeq RNA:NM_014773, UniProtKB:Q14154 No chr5 141303350 141330027 141923785 141942047 +PA166352465 404636 HGNC:31793 DENN domain containing 10 DENND10 FAM45A Yes No HGNC:HGNC:31793, NCBI Gene:404636 No 0 0 0 0 +PA166352466 57189 HGNC:29472 DENN domain containing 11 DENND11 KIAA1147 LCHN Yes No HGNC:HGNC:29472, NCBI Gene:57189 No 0 0 0 0 +PA134876117 57706 HGNC:29324 ENSG00000119522 DENN domain containing 1A DENND1A DENN/MADD domain containing 1A, connecdenn 1 FAM31A, FLJ21129, KIAA1608 Yes No Ensembl:ENSG00000119522, GeneCard:DENND1A, HGNC:HGNC:29324, HumanCyc Gene:HS12941, ModBase:Q8TEH3, NCBI Gene:57706, RefSeq DNA:NT_008470, RefSeq Protein:NP_065997, RefSeq Protein:NP_079096, RefSeq RNA:NM_020946, RefSeq RNA:NM_024820, UniProtKB:Q8TEH3, UniProtKB:Q9HCG4 No chr9 126141933 126692423 123379654 123930158 +PA134951951 163486 HGNC:28404 ENSG00000213047 DENN domain containing 1B DENND1B DENN/MADD domain containing 1B, connecdenn 2 C1orf218, FAM31B, FLJ20054, MGC27044 Yes No Comparative Toxicogenomics Database:163486, Ensembl:ENSG00000213047, GeneCard:DENND1B, HGNC:HGNC:28404, HumanCyc Gene:HS14956, NCBI Gene:163486, OMIM:613292, RefSeq DNA:NT_004487, RefSeq Protein:NP_001136267, RefSeq Protein:NP_001182144, RefSeq Protein:NP_001182145, RefSeq Protein:NP_659414, RefSeq RNA:NM_001142795, RefSeq RNA:NM_001195215, RefSeq RNA:NM_001195216, RefSeq RNA:NM_144977, UniProtKB:B3KR95, UniProtKB:Q6P3S1 No chr1 197473878 197744623 197504748 197782138 +PA134893022 79958 HGNC:26225 ENSG00000205744 DENN domain containing 1C DENND1C DENN/MADD domain containing 1C, connecdenn 3 FAM31C, FLJ22757 Yes No Ensembl:ENSG00000205744, GeneCard:DENND1C, HGNC:HGNC:26225, ModBase:Q8IV53, NCBI Gene:79958, RefSeq DNA:NT_011255, RefSeq Protein:NP_079174, RefSeq RNA:NM_024898, UniProtKB:Q8IV53 No chr19 6467218 6481798 6467204 6481808 +PA134931054 27147 HGNC:22212 ENSG00000146966 DENN domain containing 2A DENND2A DENN/MADD domain containing 2A FAM31D, KIAA1277 Yes No Comparative Toxicogenomics Database:27147, Ensembl:ENSG00000146966, GeneCard:DENND2A, HGNC:HGNC:22212, NCBI Gene:27147, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_056504, RefSeq RNA:NM_015689, UniProtKB:Q9ULE3 No chr7 140218220 140341285 140518418 140642209 +PA166352464 6764 HGNC:11350 DENN domain containing 2B DENND2B DENN/MADD domain containing 2B, HeLa tumor suppression, ST5 HTS1, p126 Yes No HGNC:HGNC:11350, NCBI Gene:6764 No 0 0 0 0 +PA142671985 163259 HGNC:24748 ENSG00000175984 DENN domain containing 2C DENND2C DENN/MADD domain containing 2C DKFZp686G0351, DKFZp779P1149, FLJ37099, RP5-1156J9.1, dJ1156J9.1 Yes No Ensembl:ENSG00000175984, GeneCard:DENND2C, HGNC:HGNC:24748, NCBI Gene:163259, RefSeq DNA:NT_032977, RefSeq Protein:NP_940861, RefSeq RNA:NM_198459, UniProtKB:Q68D51 No chr1 115127155 115212732 114584575 114670111 +PA142671986 79961 HGNC:26192 ENSG00000162777 DENN domain containing 2D DENND2D DENN/MADD domain containing 2D FLJ22457, RP5-1180E21.2 Yes No Comparative Toxicogenomics Database:79961, Ensembl:ENSG00000162777, GeneCard:DENND2D, HGNC:HGNC:26192, HumanCyc Gene:HS14967, NCBI Gene:79961, RefSeq DNA:NT_032977, RefSeq Protein:NP_079177, RefSeq RNA:NM_024901, UniProtKB:Q9H6A0 No chr1 111728591 111747160 111185969 111204791 +PA142671987 22898 HGNC:29134 ENSG00000105339 DENN domain containing 3 DENND3 DENN/MADD domain containing 3 KIAA0870 Yes No Comparative Toxicogenomics Database:22898, Ensembl:ENSG00000105339, GeneCard:DENND3, HGNC:HGNC:29134, ModBase:A2RUS2, NCBI Gene:22898, RefSeq DNA:NT_008046, RefSeq Protein:NP_055772, RefSeq RNA:NM_014957, UniProtKB:A2RUS2 No chr8 142138720 142205903 141128618 141195804 +PA134887513 10260 HGNC:24321 ENSG00000174485 DENN domain containing 4A DENND4A DENN/MADD domain containing 4A IRLB, MYCPBP Yes No Comparative Toxicogenomics Database:10260, Ensembl:ENSG00000174485, GeneCard:DENND4A, HGNC:HGNC:24321, NCBI Gene:10260, OMIM:600382, RefSeq DNA:NT_010194, RefSeq Protein:NP_001138295, RefSeq Protein:NP_005839, RefSeq RNA:NM_001144823, RefSeq RNA:NM_005848, UniProtKB:Q05C90, UniProtKB:Q7Z401 No chr15 65952954 66084631 65659123 65792293 +PA142671629 9909 HGNC:29044 ENSG00000198837 DENN domain containing 4B DENND4B DENN/MADD domain containing 4B KIAA0476 Yes No Ensembl:ENSG00000198837, GeneCard:DENND4B, HGNC:HGNC:29044, ModBase:O75064, NCBI Gene:9909, RefSeq DNA:NT_004487, RefSeq Protein:NP_055671, RefSeq RNA:NM_014856, UniProtKB:O75064 No chr1 153901977 153919162 153929501 153946681 +PA134939495 55667 HGNC:26079 ENSG00000137145 DENN domain containing 4C DENND4C DENN/MADD domain containing 4C C9orf55, C9orf55B, FLJ20686, RAB10GEF, bA513M16.3 Yes No Comparative Toxicogenomics Database:55667, Ensembl:ENSG00000137145, GeneCard:DENND4C, HGNC:HGNC:26079, HumanCyc Gene:HS13664, ModBase:Q9H6N4, NCBI Gene:55667, RefSeq DNA:NT_008413, RefSeq Protein:NP_060395, RefSeq RNA:NM_017925, UniProtKB:B3KXP9, UniProtKB:Q5VZ89 No chr9 19230763 19374137 19230765 19374268 +PA164718737 23258 HGNC:19344 ENSG00000184014 DENN domain containing 5A DENND5A DENN/MADD domain containing 5A FLJ22354, FLJ33829, FLJ43455, KIAA1091, RAB6IP1 Yes No Ensembl:ENSG00000184014, GeneCard:DENND5A, HGNC:HGNC:19344, ModBase:Q6IQ26, NCBI Gene:23258, RefSeq DNA:NT_009237, RefSeq Protein:NP_056028, RefSeq RNA:NM_015213, UniProtKB:B9EGP0, UniProtKB:Q6IQ26 No chr11 9160372 9286882 9138825 9265335 +PA164718788 160518 HGNC:28338 ENSG00000170456 DENN domain containing 5B DENND5B DENN/MADD domain containing 5B MGC24039 Yes No Ensembl:ENSG00000170456, GeneCard:DENND5B, HGNC:HGNC:28338, HumanCyc Gene:HS15880, ModBase:Q6ZUT9, NCBI Gene:160518, RefSeq DNA:NT_009714, RefSeq Protein:NP_659410, RefSeq RNA:NM_144973, UniProtKB:Q6ZUT9 No chr12 31535157 31743952 31382223 31591018 +PA144596431 201627 HGNC:26635 ENSG00000174839 DENN domain containing 6A DENND6A DENN/MADD domain containing 6A AFI1A, FAM116A, FLJ34969 Yes No Ensembl:ENSG00000174839, GeneCard:FAM116A, HGNC:HGNC:26635, ModBase:Q8IWF6, NCBI Gene:201627, RefSeq DNA:NT_022517, RefSeq Protein:NP_689891, RefSeq RNA:NM_152678, UniProtKB:Q8IWF6 No chr3 57611181 57678816 57625454 57693118 +PA144596432 414918 HGNC:32690 ENSG00000205593 DENN domain containing 6B DENND6B DENN/MADD domain containing 6B AFI1B, FAM116B, MGC33692 Yes No Comparative Toxicogenomics Database:414918, Ensembl:ENSG00000205593, GeneCard:FAM116B, HGNC:HGNC:32690, NCBI Gene:414918, RefSeq DNA:NT_011526, RefSeq Protein:NP_001001794, RefSeq RNA:NM_001001794, UniProtKB:Q8NEG7 No chr22 50750392 50765517 50309032 50327088 +PA27252 8562 HGNC:2769 ENSG00000139726 density regulated re-initiation and release factor DENR density-regulated protein DRP, DRP1, SMAP-3 Yes No Comparative Toxicogenomics Database:8562, Ensembl:ENSG00000139726, GenAtlas:DENR, GeneCard:DENR, HGNC:HGNC:2769, HumanCyc Gene:HS06654, ModBase:O43583, NCBI Gene:8562, OMIM:604550, RefSeq DNA:NT_009755, RefSeq Protein:NP_003668, RefSeq RNA:NM_003677, UCSC Genome Browser:NM_003677, UniProtKB:O43583 No chr12 123237371 123255953 122752821 122771064 +PA134974825 55635 HGNC:22949 ENSG00000024526 DEP domain containing 1 DEPDC1 DEP.8, DEPDC1A, FLJ20354, SDP35 Yes No Ensembl:ENSG00000024526, GeneCard:DEPDC1, HGNC:HGNC:22949, HumanCyc Gene:HS00436, ModBase:Q5TB30, NCBI Gene:55635, OMIM:612002, RefSeq DNA:NT_032977, RefSeq Protein:NP_001107592, RefSeq Protein:NP_060249, RefSeq RNA:NM_001114120, RefSeq RNA:NM_017779, UniProtKB:Q5TB30 No chr1 68939835 68962799 68474152 68497221 +PA134941087 55789 HGNC:24902 ENSG00000035499 DEP domain containing 1B DEPDC1B breast cancer cell 3 BRCC3, XTP1 Yes No Comparative Toxicogenomics Database:55789, Ensembl:ENSG00000035499, GeneCard:DEPDC1B, HGNC:HGNC:24902, HumanCyc Gene:HS00507, ModBase:Q8WUY9, NCBI Gene:55789, RefSeq DNA:NT_006713, RefSeq Protein:NP_001138680, RefSeq Protein:NP_060839, RefSeq RNA:NM_001145208, RefSeq RNA:NM_018369, UniProtKB:B4DUT4, UniProtKB:Q8WUY9 No chr5 59892739 59995993 60596912 60700166 +PA134981607 120863 HGNC:22952 ENSG00000166153 DEP domain containing 4 DEPDC4 DEP.4, FLJ33505 Yes No Ensembl:ENSG00000166153, GeneCard:DEPDC4, HGNC:HGNC:22952, HumanCyc Gene:HS09340, ModBase:Q8N2C3, NCBI Gene:120863, RefSeq DNA:NT_029419, RefSeq Protein:NP_689530, RefSeq RNA:NM_152317, UniProtKB:Q8N2C3 No chr12 100597447 100660857 100203669 100268094 +PA134864958 9681 HGNC:18423 ENSG00000100150 DEP domain containing 5, GATOR1 subcomplex subunit DEPDC5 DEP domain containing 5 DEP.5, KIAA0645 Yes No Ensembl:ENSG00000100150, GeneCard:DEPDC5, HGNC:HGNC:18423, HumanCyc Gene:HS01988, ModBase:Q6PEZ1, NCBI Gene:9681, RefSeq DNA:NT_011520, RefSeq Protein:NP_001007189, RefSeq Protein:NP_001129501, RefSeq Protein:NP_001229825, RefSeq Protein:NP_001229826, RefSeq Protein:NP_055477, RefSeq RNA:NM_001007188, RefSeq RNA:NM_001136029, RefSeq RNA:NM_001242896, RefSeq RNA:NM_001242897, RefSeq RNA:NM_014662, UniProtKB:A8MPX9, UniProtKB:O75140 No chr22 32149937 32303020 31753951 31907034 +PA144596441 91614 HGNC:29899 ENSG00000121690 DEP domain containing 7 DEPDC7 Yes No Comparative Toxicogenomics Database:91614, Ensembl:ENSG00000121690, GeneCard:DEPDC7, HGNC:HGNC:29899, HumanCyc Gene:HS04512, ModBase:Q96QD5, NCBI Gene:91614, OMIM:612294, RefSeq DNA:NT_009237, RefSeq Protein:NP_001070710, RefSeq Protein:NP_631899, RefSeq RNA:NM_001077242, RefSeq RNA:NM_139160, UniProtKB:Q96QD5 No chr11 33037410 33055128 33015864 33033582 +PA128394583 11067 HGNC:23355 ENSG00000165507 DEPP autophagy regulator 1 DEPP1 """DEPP1 autophagy regulator"", ""DEPP1, autophagy regulator"", ""chromosome 10 open reading frame 10"", ""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene""" C10orf10, DEPP, FIG, Fseg Yes No Comparative Toxicogenomics Database:11067, Ensembl:ENSG00000165507, GeneCard:C10orf10, HGNC:HGNC:23355, HumanCyc Gene:HS15333, ModBase:Q9NTK1, NCBI Gene:11067, OMIM:611309, RefSeq DNA:NT_033985, RefSeq Protein:NP_008952, RefSeq RNA:NM_007021, UCSC Genome Browser:NM_007021, UniProtKB:B2R6A1, UniProtKB:Q9NTK1 No chr10 45471709 45474330 44976261 44978882 +PA134897957 64798 HGNC:22953 ENSG00000155792 DEP domain containing MTOR interacting protein DEPTOR DEP domain containing MTOR-interacting protein DEP.6, DEPDC6, FLJ12428 Yes Yes Comparative Toxicogenomics Database:64798, Ensembl:ENSG00000155792, GeneCard:DEPDC6, HGNC:HGNC:22953, HumanCyc Gene:HS08067, ModBase:Q8TB45, NCBI Gene:64798, OMIM:612974, RefSeq DNA:NT_008046, RefSeq Protein:NP_073620, RefSeq RNA:NM_022783, UniProtKB:Q8TB45 No chr8 120885900 121063157 119873655 120056202 +PA134943367 51071 HGNC:24269 ENSG00000023697 deoxyribose-phosphate aldolase DERA deoxyribose-phosphate aldolase (putative) CGI-26, DEOC Yes No Comparative Toxicogenomics Database:51071, Ensembl:ENSG00000023697, GeneCard:DERA, HGNC:HGNC:24269, HumanCyc Gene:HS00429, ModBase:Q9Y315, NCBI Gene:51071, RefSeq DNA:NT_009714, RefSeq Protein:NP_057038, RefSeq RNA:NM_015954, UniProtKB:Q9Y315 No chr12 16064186 16190315 15911172 16037381 +PA134926638 79139 HGNC:28454 ENSG00000136986 derlin 1 DERL1 DER-1, DER1, FLJ13784, MGC3067, PRO2577, derlin-1 Yes No Comparative Toxicogenomics Database:79139, Ensembl:ENSG00000136986, GeneCard:DERL1, HGNC:HGNC:28454, HumanCyc Gene:HS13652, ModBase:Q9BUN8, NCBI Gene:79139, OMIM:608813, RefSeq DNA:NT_008046, RefSeq Protein:NP_001128143, RefSeq Protein:NP_077271, RefSeq RNA:NM_001134671, RefSeq RNA:NM_024295, UniProtKB:Q9BUN8 No chr8 124025404 124054663 123013164 123042423 +PA134896343 51009 HGNC:17943 ENSG00000072849 derlin 2 DERL2 CGI-101, F-LAN-1, F-LANa, FLANa, derlin-2 Yes No Comparative Toxicogenomics Database:51009, Ensembl:ENSG00000072849, GeneCard:DERL2, HGNC:HGNC:17943, HumanCyc Gene:HS01087, ModBase:Q9GZP9, NCBI Gene:51009, OMIM:610304, RefSeq DNA:NT_010718, RefSeq Protein:NP_057125, RefSeq RNA:NM_016041, UniProtKB:Q9GZP9 No chr17 5377582 5389520 5471251 5486230 +PA25883 91319 HGNC:14236 ENSG00000099958 derlin 3 DERL3 C22orf14, FLJ43842, IZP6, MGC71803, derlin-3 Yes No Comparative Toxicogenomics Database:91319, Ensembl:ENSG00000099958, GenAtlas:DERL3, GeneCard:DERL3, HGNC:HGNC:14236, ModBase:Q96Q80, NCBI Gene:91319, OMIM:610305, RefSeq DNA:NT_011520, RefSeq Protein:NP_001002862, RefSeq Protein:NP_001129223, RefSeq Protein:NP_940842, RefSeq RNA:NM_001002862, RefSeq RNA:NM_001135751, RefSeq RNA:NM_198440, UniProtKB:Q96Q80 No chr22 24176690 24181430 23834503 23839344 +PA166181529 113455421 HGNC:54084 ENSG00000286140 DERPC proline and glycine rich nuclear protein DERPC """DERPC, proline and glycine rich nuclear protein"", ""decreased expression in renal and prostate cancer""" Yes No Ensembl:ENSG00000286140, HGNC:HGNC:54084, NCBI Gene:113455421 No 0 0 0 0 +PA27253 1674 HGNC:2770 ENSG00000175084 desmin DES """cardiomyopathy, dilated 1I"", ""intermediate filament protein""" CMD1F, CMD1I, CSM1, CSM2, LGMD2R Yes No Comparative Toxicogenomics Database:1674, Ensembl:ENSG00000175084, GenAtlas:DES, GeneCard:DES, HGNC:HGNC:2770, HumanCyc Gene:HS10875, ModBase:Q8TD99, NCBI Gene:1674, OMIM:125660, OMIM:181400, OMIM:601419, OMIM:604765, RefSeq DNA:NG_008043, RefSeq DNA:NT_005403, RefSeq Protein:NP_001918, RefSeq RNA:NM_001927, UCSC Genome Browser:NM_001927, UniProtKB:P17661, UniProtKB:Q53SB5 No chr2 220283099 220291461 219418377 219426739 +PA164725008 27351 HGNC:24577 ENSG00000100418 desumoylating isopeptidase 1 DESI1 polyubiquitinated substrate transporter D15Wsu75e, DESI-1, FAM152B, POST, PPPDE2 Yes No Ensembl:ENSG00000100418, GeneCard:PPPDE2, HGNC:HGNC:24577, NCBI Gene:27351, RefSeq DNA:NT_011520, RefSeq Protein:NP_056519, RefSeq RNA:NM_015704, UniProtKB:Q6ICB0 No chr22 41994032 42017079 41598028 41621077 +PA164724993 51029 HGNC:24264 ENSG00000121644 desumoylating isopeptidase 2 DESI2 C1orf121, CGI-146, DESI-2, FAM152A, FLJ21998, PNAS-4, PPPDE1 Yes No Comparative Toxicogenomics Database:51029, Ensembl:ENSG00000121644, GeneCard:PPPDE1, HGNC:HGNC:24264, HumanCyc Gene:HS13024, NCBI Gene:51029, RefSeq DNA:NT_004836, RefSeq DNA:NT_004836.17, RefSeq DNA:NT_167186, RefSeq Protein:NP_057160, RefSeq Protein:NP_057160.2, RefSeq RNA:NM_016076, RefSeq RNA:NM_016076.3, UniProtKB:Q9BSY9 No chr1 244816352 244872335 244653048 244709034 +PA134943899 55070 HGNC:25477 ENSG00000140543 DET1 partner of COP1 E3 ubiquitin ligase DET1 """DET1, COP1 ubiquitin ligase partner"", ""de-etiolated homolog 1 (Arabidopsis)""" FLJ10103 Yes No Comparative Toxicogenomics Database:55070, Ensembl:ENSG00000140543, GeneCard:DET1, HGNC:HGNC:25477, HumanCyc Gene:HS13839, NCBI Gene:55070, OMIM:608727, RefSeq DNA:NT_010274, RefSeq Protein:NP_001137546, RefSeq Protein:NP_060466, RefSeq RNA:NM_001144074, RefSeq RNA:NM_017996, RefSeq RNA:NR_026645, UniProtKB:B3KNN6, UniProtKB:Q7L5Y6 No chr15 89036449 89089934 88501924 88546703 +PA143485419 159989 HGNC:26344 ENSG00000165325 deuterosome assembly protein 1 DEUP1 coiled-coil domain containing 67 CCDC67, FLJ25393 Yes No Ensembl:ENSG00000165325, GeneCard:CCDC67, HGNC:HGNC:26344, ModBase:Q05D60, NCBI Gene:159989, RefSeq DNA:NT_167190, RefSeq Protein:NP_857596, RefSeq RNA:NM_181645, UniProtKB:Q05D60 No chr11 93063156 93171636 93329079 93438470 +PA165449964 28955 HGNC:13267 ENSG00000182108 Dexi homolog DEXI Dexi homolog (mouse), dexamethasone-induced transcript MYLE Yes No Ensembl:ENSG00000182108, GeneCard:DEXI, HGNC:HGNC:13267, NCBI Gene:28955, RefSeq DNA:NT_010393, RefSeq Protein:NP_054734, RefSeq RNA:NM_014015, UniProtKB:O95424 No chr16 11022748 11036257 10928891 10943007 +PA27254 1676 HGNC:2772 ENSG00000160049 DNA fragmentation factor subunit alpha DFFA """DNA fragmentation factor, 45 kD, alpha subunit"", ""DNA fragmentation factor, 45kDa, alpha polypeptide""" DFF-45, DFF1, DFF45, ICAD Yes No Comparative Toxicogenomics Database:1676, Ensembl:ENSG00000160049, GenAtlas:DFFA, GeneCard:DFFA, HGNC:HGNC:2772, HumanCyc Gene:HS08441, ModBase:O00273, NCBI Gene:1676, OMIM:601882, RefSeq DNA:NT_021937, RefSeq Protein:NP_004392, RefSeq Protein:NP_998731, RefSeq RNA:NM_004401, RefSeq RNA:NM_213566, UCSC Genome Browser:NM_004401, UniProtKB:O00273, UniProtKB:Q5T6G6 No chr1 10520588 10532613 10460531 10472556 +PA27255 1677 HGNC:2773 ENSG00000169598 DNA fragmentation factor subunit beta DFFB """DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)"", ""caspase-activated DNase""" CAD, CPAN, DFF-40, DFF40 Yes No Comparative Toxicogenomics Database:1677, Ensembl:ENSG00000169598, GenAtlas:DFFB, GeneCard:DFFB, HGNC:HGNC:2773, HumanCyc Gene:HS09975, ModBase:O76075, NCBI Gene:1677, OMIM:601883, RefSeq DNA:NT_004350, RefSeq Protein:NP_004393, RefSeq RNA:NM_004402, UCSC Genome Browser:NM_004402, UniProtKB:O76075 No chr1 3773845 3801993 3857143 3885429 +PA27303 8694 HGNC:2843 ENSG00000185000 diacylglycerol O-acyltransferase 1 DGAT1 ARGP1, DGAT Yes No Comparative Toxicogenomics Database:8694, Ensembl:ENSG00000185000, GenAtlas:DGAT1, GeneCard:DGAT1, HGNC:HGNC:2843, HumanCyc Gene:HS00058, ModBase:O75907, NCBI Gene:8694, OMIM:604900, RefSeq DNA:NT_037704, RefSeq Protein:NP_036211, RefSeq RNA:NM_012079, UCSC Genome Browser:NM_012079, UniProtKB:O75907 No chr8 145538246 145550582 144314583 144326919 +PA27304 84649 HGNC:16940 ENSG00000062282 diacylglycerol O-acyltransferase 2 DGAT2 Yes No Comparative Toxicogenomics Database:84649, Ensembl:ENSG00000062282, GenAtlas:DGAT2, GeneCard:DGAT2, HGNC:HGNC:16940, HumanCyc Gene:HS00766, ModBase:Q96PD7, NCBI Gene:84649, OMIM:606983, RefSeq DNA:NT_167190, RefSeq Protein:NP_115953, RefSeq RNA:NM_032564, UCSC Genome Browser:NM_032564, UniProtKB:Q96PD7 No chr11 75479778 75512581 75768733 75801536 +PA143485448 347516 HGNC:23250 ENSG00000184210 diacylglycerol O-acyltransferase 2 like 6 DGAT2L6 diacylglycerol O-acyltransferase 2-like 6 DC3, FLJ25989 Yes No Ensembl:ENSG00000184210, GeneCard:DGAT2L6, HGNC:HGNC:23250, ModBase:Q6ZPD8, NCBI Gene:347516, RefSeq DNA:NT_011669, RefSeq Protein:NP_940914, RefSeq RNA:NM_198512, UniProtKB:Q6ZPD8 No chrX 69397336 69425553 70177483 70205703 +PA27306 1714 HGNC:2844 DiGeorge syndrome chromosome region DGCR CATCH22 Yes No Comparative Toxicogenomics Database:1714, GenAtlas:DGCR, GeneCard:DGCR, HGNC:HGNC:2844, NCBI Gene:1714, OMIM:188400 No chr22 +PA134967484 25786 HGNC:17226 ENSG00000273311 DiGeorge syndrome critical region gene 11 (non-protein coding) DGCR11 DGS-D Yes No Ensembl:ENSG00000273311, GeneCard:DGCR11, HGNC:HGNC:17226, NCBI Gene:25786, RefSeq DNA:NT_011519, RefSeq RNA:NR_024157 No chr22 19033675 19035888 19046162 19048375 +PA27307 9993 HGNC:2845 ENSG00000070413 DiGeorge syndrome critical region gene 2 DGCR2 integral membrane protein DGCR2 DGS-C, IDD, KIAA0163, LAN, SEZ-12 Yes No Ensembl:ENSG00000070413, GenAtlas:DGCR2, GeneCard:DGCR2, HGNC:HGNC:2845, HumanCyc Gene:HS00995, ModBase:P98153, NCBI Gene:9993, OMIM:600594, RefSeq DNA:NG_021333, RefSeq DNA:NT_011519, RefSeq Protein:NP_001167004, RefSeq Protein:NP_001167005, RefSeq Protein:NP_001171710, RefSeq Protein:NP_005128, RefSeq RNA:NM_001173533, RefSeq RNA:NM_001173534, RefSeq RNA:NM_001184781, RefSeq RNA:NM_005137, RefSeq RNA:NR_033674, UCSC Genome Browser:NM_005137, UniProtKB:B7Z3T5, UniProtKB:B7Z935, UniProtKB:P98153, UniProtKB:Q8IWC8 No chr22 19023795 19109967 19036282 19122454 +PA38185 26220 HGNC:16757 ENSG00000273032 DiGeorge syndrome critical region gene 5 (non-protein coding) DGCR5 long intergenic non-protein coding RNA 37, non-protein coding RNA 37 LINC00037, NCRNA00037 Yes Yes Ensembl:ENSG00000273032, GenAtlas:DGCR5, GeneCard:DGCR5, HGNC:HGNC:16757, NCBI Gene:26220, RefSeq DNA:NT_011519, RefSeq RNA:NR_002733 No chr22 18958011 18982142 18970498 19031242 +PA27308 8214 HGNC:2846 ENSG00000183628 DiGeorge syndrome critical region gene 6 DGCR6 Yes No Comparative Toxicogenomics Database:8214, Ensembl:ENSG00000183628, GenAtlas:DGCR6, GeneCard:DGCR6, HGNC:HGNC:2846, HumanCyc Gene:HS05159, ModBase:Q14129, NCBI Gene:8214, OMIM:601279, RefSeq DNA:NG_009052, RefSeq DNA:NT_011519, RefSeq Protein:NP_005666, RefSeq RNA:NM_005675, UCSC Genome Browser:NM_005675, UniProtKB:Q14129 No chr22 18893736 18899601 18906223 18912088 +PA38570 85359 HGNC:18551 ENSG00000128185 DiGeorge syndrome critical region gene 6 like DGCR6L DiGeorge syndrome critical region gene 6-like FLJ10666 Yes No Ensembl:ENSG00000128185, GenAtlas:DGCR6L, GeneCard:DGCR6L, HGNC:HGNC:18551, ModBase:Q9BY27, NCBI Gene:85359, OMIM:609459, RefSeq DNA:NT_011519, RefSeq Protein:NP_150282, RefSeq RNA:NM_033257, UCSC Genome Browser:NM_033257, UniProtKB:Q9BY27 No chr22 20301761 20307628 20314238 20320105 +PA27309 54487 HGNC:2847 ENSG00000128191 DGCR8 microprocessor complex subunit DGCR8 """DGCR8 microprocessor complex subunit"", ""DGCR8, microprocessor complex subunit""" C22orf12, DGCRK6, Gy1, pasha Yes No Comparative Toxicogenomics Database:54487, Ensembl:ENSG00000128191, GenAtlas:DGCR8, GeneCard:DGCR8, HGNC:HGNC:2847, ModBase:Q9H6T7, NCBI Gene:54487, OMIM:609030, RefSeq DNA:NG_022931, RefSeq DNA:NT_011519, RefSeq Protein:NP_001177255, RefSeq Protein:NP_073557, RefSeq RNA:NM_001190326, RefSeq RNA:NM_022720, UCSC Genome Browser:NM_022720, UniProtKB:Q8WYQ5 No chr22 20067755 20099400 20080232 20111877 +PA27310 1606 HGNC:2849 ENSG00000065357 diacylglycerol kinase alpha DGKA diacylglycerol kinase, alpha 80kDa DAGK, DAGK1, DGK-alpha Yes No Comparative Toxicogenomics Database:1606, Ensembl:ENSG00000065357, GenAtlas:DGKA, GeneCard:DGKA, HGNC:HGNC:2849, HumanCyc Gene:HS00007, ModBase:P23743, NCBI Gene:1606, OMIM:125855, RefSeq DNA:NT_029419, RefSeq Protein:NP_001336, RefSeq Protein:NP_958852, RefSeq Protein:NP_958853, RefSeq Protein:NP_963848, RefSeq RNA:NM_001345, RefSeq RNA:NM_201444, RefSeq RNA:NM_201445, RefSeq RNA:NM_201554, UCSC Genome Browser:NM_001345, UniProtKB:P23743 No chr12 56324946 56347811 55931076 55954023 +PA27311 1607 HGNC:2850 ENSG00000136267 diacylglycerol kinase beta DGKB diacylglycerol kinase, beta 90kDa DAGK2, DGK, DGK-BETA, KIAA0718 Yes Yes Ensembl:ENSG00000136267, GenAtlas:DGKB, GeneCard:DGKB, HGNC:HGNC:2850, HumanCyc Gene:HS06141, ModBase:Q9UQ29, NCBI Gene:1607, OMIM:604070, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_004071, RefSeq Protein:NP_663733, RefSeq RNA:NM_004080, RefSeq RNA:NM_145695, UCSC Genome Browser:NM_004080, UniProtKB:Q9Y6T7 No chr7 14184674 14943281 14145049 14974777 +PA27312 8527 HGNC:2851 ENSG00000077044 diacylglycerol kinase delta DGKD """diacylglycerol kinase, delta 130kDa"", ""diglyceride kinase""" DGKdelta, KIAA0145 Yes No Ensembl:ENSG00000077044, GenAtlas:DGKD, GeneCard:DGKD, HGNC:HGNC:2851, HumanCyc Gene:HS01226, ModBase:Q16760, NCBI Gene:8527, OMIM:601826, RefSeq DNA:NT_005120, RefSeq Protein:NP_003639, RefSeq Protein:NP_690618, RefSeq RNA:NM_003648, RefSeq RNA:NM_152879, UCSC Genome Browser:NM_003648, UniProtKB:Q16760 No chr2 234263149 234380744 233354507 233472098 +PA27313 8526 HGNC:2852 ENSG00000153933 diacylglycerol kinase epsilon DGKE diacylglycerol kinase, epsilon 64kDa DAGK6, DGK Yes No Ensembl:ENSG00000153933, GenAtlas:DGKE, GeneCard:DGKE, HGNC:HGNC:2852, HumanCyc Gene:HS07932, ModBase:P52429, NCBI Gene:8526, OMIM:601440, RefSeq DNA:NT_010783, RefSeq Protein:NP_003638, RefSeq RNA:NM_003647, UCSC Genome Browser:NM_003647, UniProtKB:A1L4Q0, UniProtKB:P52429 No chr17 54911460 54946036 56834099 56869565 +PA27314 1608 HGNC:2853 ENSG00000058866 diacylglycerol kinase gamma DGKG diacylglycerol kinase, gamma 90kDa DAGK3 Yes No Comparative Toxicogenomics Database:1608, Ensembl:ENSG00000058866, GenAtlas:DGKG, GeneCard:DGKG, HGNC:HGNC:2853, HumanCyc Gene:HS00726, ModBase:P49619, NCBI Gene:1608, OMIM:601854, RefSeq DNA:NT_005612, RefSeq Protein:NP_001074213, RefSeq Protein:NP_001074214, RefSeq Protein:NP_001337, RefSeq RNA:NM_001080744, RefSeq RNA:NM_001080745, RefSeq RNA:NM_001346, UCSC Genome Browser:NM_001346, UniProtKB:P49619, UniProtKB:Q2M1H4 No chr3 185852896 186080023 186147201 186362234 +PA27315 160851 HGNC:2854 ENSG00000102780 diacylglycerol kinase eta DGKH diacylglycerol kinase, eta DGKeta Yes Yes Ensembl:ENSG00000102780, GenAtlas:DGKH, GeneCard:DGKH, HGNC:HGNC:2854, HumanCyc Gene:HS02411, ModBase:Q86XP1, NCBI Gene:160851, OMIM:604071, RefSeq DNA:NT_024524, RefSeq Protein:NP_001191433, RefSeq Protein:NP_001191434, RefSeq Protein:NP_001191435, RefSeq Protein:NP_690874, RefSeq Protein:NP_821077, RefSeq RNA:NM_001204504, RefSeq RNA:NM_001204505, RefSeq RNA:NM_001204506, RefSeq RNA:NM_152910, RefSeq RNA:NM_178009, UCSC Genome Browser:NM_152910, UniProtKB:Q86XP1 No chr13 42614172 42804352 42040036 42256584 +PA27316 9162 HGNC:2855 ENSG00000157680 diacylglycerol kinase iota DGKI diacylglycerol kinase, iota DGK-IOTA Yes Yes Ensembl:ENSG00000157680, GenAtlas:DGKI, GeneCard:DGKI, HGNC:HGNC:2855, HumanCyc Gene:HS08234, ModBase:O75912, NCBI Gene:9162, OMIM:604072, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_004708, RefSeq RNA:NM_004717, UCSC Genome Browser:NM_004717, UniProtKB:O75912 No chr7 137074385 137531609 137384283 137846864 +PA142671978 139189 HGNC:32395 ENSG00000274588 diacylglycerol kinase kappa DGKK diacylglycerol kinase, kappa Yes No Ensembl:ENSG00000274588, GeneCard:DGKK, HGNC:HGNC:32395, ModBase:Q5KSL6, NCBI Gene:139189, RefSeq DNA:NT_011638, RefSeq Protein:NP_001013764, RefSeq RNA:NM_001013742, UniProtKB:Q5KSL6 No chrX 50111879 50213721 50365407 50470850 +PA27317 1609 HGNC:2856 ENSG00000145214 diacylglycerol kinase theta DGKQ diacylglycerol kinase, theta 110kDa DAGK, DAGK4, DAGK7 Yes No Ensembl:ENSG00000145214, GenAtlas:DGKQ, GeneCard:DGKQ, HGNC:HGNC:2856, HumanCyc Gene:HS07233, ModBase:P52824, NCBI Gene:1609, OMIM:601207, RefSeq DNA:NT_037622, RefSeq Protein:NP_001338, RefSeq RNA:NM_001347, UCSC Genome Browser:NM_001347, UniProtKB:P52824 No chr4 952672 967348 958884 973560 +PA27318 8525 HGNC:2857 ENSG00000149091 diacylglycerol kinase zeta DGKZ diacylglycerol kinase, zeta DAGK5, DAGK6, DGK-ZETA, hDGKzeta Yes No Comparative Toxicogenomics Database:8525, Ensembl:ENSG00000149091, GenAtlas:DGKZ, GeneCard:DGKZ, HGNC:HGNC:2857, HumanCyc Gene:HS07583, ModBase:Q13574, NCBI Gene:8525, OMIM:601441, RefSeq DNA:NT_009237, RefSeq Protein:NP_001099010, RefSeq Protein:NP_001186195, RefSeq Protein:NP_001186196, RefSeq Protein:NP_001186197, RefSeq Protein:NP_003637, RefSeq Protein:NP_963290, RefSeq Protein:NP_963291, RefSeq RNA:NM_001105540, RefSeq RNA:NM_001199266, RefSeq RNA:NM_001199267, RefSeq RNA:NM_001199268, RefSeq RNA:NM_003646, RefSeq RNA:NM_201532, RefSeq RNA:NM_201533, UCSC Genome Browser:NM_003646, UniProtKB:A8MVN1, UniProtKB:Q13574, UniProtKB:Q6ZVG7 No chr11 46354455 46402104 46332905 46380554 +PA134952868 80017 HGNC:20498 ENSG00000133943 D-glutamate cyclase DGLUCY chromosome 14 open reading frame 159 C14orf159, FLJ39975 Yes No Ensembl:ENSG00000133943, GeneCard:C14orf159, HGNC:HGNC:20498, HumanCyc Gene:HS05798, ModBase:Q9H7G0, NCBI Gene:80017, RefSeq DNA:NT_026437, RefSeq Protein:NP_001095836, RefSeq Protein:NP_001095837, RefSeq Protein:NP_001095838, RefSeq Protein:NP_001095839, RefSeq Protein:NP_079228, RefSeq RNA:NM_001102366, RefSeq RNA:NM_001102367, RefSeq RNA:NM_001102368, RefSeq RNA:NM_001102369, RefSeq RNA:NM_024952, UniProtKB:Q4LE40, UniProtKB:Q7Z3D6 No chr14 91526677 91691976 91114013 91225396 +PA27319 1716 HGNC:2858 ENSG00000114956 deoxyguanosine kinase DGUOK dGK Yes No Comparative Toxicogenomics Database:1716, Ensembl:ENSG00000114956, GenAtlas:DGUOK, GeneCard:DGUOK, HGNC:HGNC:2858, HumanCyc Gene:HS03819, ModBase:Q16854, NCBI Gene:1716, OMIM:251880, OMIM:601465, RefSeq DNA:NG_008044, RefSeq DNA:NT_022184, RefSeq Protein:NP_550438, RefSeq Protein:NP_550440, RefSeq RNA:NM_080916, RefSeq RNA:NM_080918, UCSC Genome Browser:NM_001929, UniProtKB:Q16854, UniProtKB:Q4ZG09 No chr2 74153953 74186088 73926826 73958961 +PA27320 1718 HGNC:2859 ENSG00000116133 24-dehydrocholesterol reductase DHCR24 3beta-hydroxysterol delta24 reductase, Delta(24)-sterol reductase DCE, KIAA0018, seladin-1 Yes No Comparative Toxicogenomics Database:1718, Ensembl:ENSG00000116133, GenAtlas:DHCR24, GeneCard:DHCR24, HGNC:HGNC:2859, HumanCyc Gene:HS03985, ModBase:Q15392, NCBI Gene:1718, OMIM:602398, OMIM:606418, RefSeq DNA:NG_008839, RefSeq DNA:NT_032977, RefSeq Protein:NP_055577, RefSeq RNA:NM_014762, UCSC Genome Browser:NM_014762, UniProtKB:Q15392 No chr1 55315300 55352921 54849627 54887248 +PA27321 1717 HGNC:2860 ENSG00000172893 7-dehydrocholesterol reductase DHCR7 SLOS Yes No Comparative Toxicogenomics Database:1717, Ensembl:ENSG00000172893, GenAtlas:DHCR7, GeneCard:DHCR7, HGNC:HGNC:2860, HumanCyc Gene:HS10588, ModBase:Q9UBM7, NCBI Gene:1717, OMIM:270400, OMIM:602858, RefSeq DNA:NG_012655, RefSeq DNA:NT_167190, RefSeq Protein:NP_001157289, RefSeq Protein:NP_001351, RefSeq RNA:NM_001163817, RefSeq RNA:NM_001360, UCSC Genome Browser:NM_001360, UniProtKB:Q9UBM7 No chr11 71145457 71159477 71434411 71448431 +PA134867119 79947 HGNC:20603 ENSG00000117682 dehydrodolichyl diphosphate synthase subunit DHDDS dehydrodolichyl diphosphate synthase DS, FLJ13102, HDS, RP59, hCIT Yes No Comparative Toxicogenomics Database:79947, Ensembl:ENSG00000117682, GeneCard:DHDDS, HGNC:HGNC:20603, HumanCyc Gene:HS04165, ModBase:Q86SQ9, NCBI Gene:79947, OMIM:608172, RefSeq DNA:NT_004610, RefSeq Protein:NP_079163, RefSeq Protein:NP_995583, RefSeq RNA:NM_024887, RefSeq RNA:NM_205861, UniProtKB:Q86SQ9 No chr1 26758773 26797797 26432282 26471306 +PA27322 27294 HGNC:17887 ENSG00000104808 dihydrodiol dehydrogenase DHDH """dihydrodiol dehydrogenase (dimeric)"", ""trans-1,2-dihydrobenzene-1,2-diol dehydrogenase""" HUM2DD Yes No Ensembl:ENSG00000104808, GenAtlas:DHDH, GeneCard:DHDH, HGNC:HGNC:17887, HumanCyc Gene:HS02621, ModBase:Q9UQ10, NCBI Gene:27294, OMIM:606377, RefSeq DNA:NT_011109, RefSeq Protein:NP_055290, RefSeq RNA:NM_014475, UCSC Genome Browser:NM_014475, UniProtKB:Q9UQ10 No chr19 49436939 49448226 48932790 48944969 +PA143 1719 HGNC:2861 ENSG00000228716 dihydrofolate reductase DHFR DHFR1 Yes Yes Comparative Toxicogenomics Database:1719, Ensembl:ENSG00000228716, GenAtlas:DHFR, GeneCard:DHFR, HGNC:HGNC:2861, HumanCyc Gene:HS09699, ModBase:P00374, NCBI Gene:1719, OMIM:126060, RefSeq DNA:NG_023304, RefSeq DNA:NT_006713, RefSeq Protein:NP_000782, RefSeq RNA:NM_000791, UCSC Genome Browser:NM_000791, UniProtKB:B0YJ76, UniProtKB:P00374 No chr5 79922045 79950800 80626226 80654981 +PA134889916 200895 HGNC:27309 ENSG00000178700 dihydrofolate reductase 2 DHFR2 dihydrofolate reductase-like 1 DHFRL1, DHFRP4, FLJ16119 Yes No Ensembl:ENSG00000178700, GeneCard:DHFRL1, HGNC:HGNC:27309, ModBase:Q86XF0, NCBI Gene:200895, RefSeq DNA:NT_005612, RefSeq Protein:NP_001182572, RefSeq Protein:NP_789785, RefSeq RNA:NM_001195643, RefSeq RNA:NM_176815, UniProtKB:Q86XF0 No chr3 93776766 93782233 94057922 94063656 +PA27323 573971 HGNC:2862 ENSG00000188985 dihydrofolate reductase pseudogene 1 DHFRP1 Yes No Ensembl:ENSG00000188985, GenAtlas:DHFRP1, GeneCard:DHFRP1, HGNC:HGNC:2862, NCBI Gene:573971, RefSeq DNA:NG_005427, RefSeq DNA:NT_010966 No chr18 23747826 23751321 26167862 26171357 +PA27324 729816 HGNC:2863 ENSG00000228432 dihydrofolate reductase pseudogene 2 DHFRP2 Yes No Ensembl:ENSG00000228432, GenAtlas:DHFRP2, GeneCard:DHFRP2, HGNC:HGNC:2863, NCBI Gene:729816, RefSeq DNA:NG_001113, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 31331244 31334742 31363467 31366965 +PA27326 50846 HGNC:2865 ENSG00000139549 desert hedgehog signaling molecule DHH desert hedgehog HHG-3, MGC35145 Yes No Comparative Toxicogenomics Database:50846, Ensembl:ENSG00000139549, GenAtlas:DHH, GeneCard:DHH, HGNC:HGNC:2865, HumanCyc Gene:HS06630, ModBase:O43323, NCBI Gene:50846, OMIM:233420, OMIM:605423, OMIM:607080, RefSeq DNA:NG_008973, RefSeq DNA:NT_029419, RefSeq Protein:NP_066382, RefSeq RNA:NM_021044, UCSC Genome Browser:NM_021044, UniProtKB:O43323 No chr12 49483204 49488602 49086656 49094819 +PA27327 1723 HGNC:2867 ENSG00000102967 dihydroorotate dehydrogenase (quinone) DHODH Yes Yes Comparative Toxicogenomics Database:1723, Ensembl:ENSG00000102967, GenAtlas:DHODH, GeneCard:DHODH, HGNC:HGNC:2867, HumanCyc Gene:HS02434, ModBase:Q02127, NCBI Gene:1723, OMIM:126064, OMIM:264750, RefSeq DNA:NG_016271, RefSeq DNA:NT_010498, RefSeq Protein:NP_001352, RefSeq RNA:NM_001361, UCSC Genome Browser:NM_001361, UniProtKB:Q02127 No chr16 72042643 72059316 72008744 72027659 +PA27329 1725 HGNC:2869 ENSG00000095059 deoxyhypusine synthase DHPS migration-inducing gene 13 MIG13 Yes No Comparative Toxicogenomics Database:1725, Ensembl:ENSG00000095059, GenAtlas:DHPS, GeneCard:DHPS, HGNC:HGNC:2869, HumanCyc Gene:HS01810, ModBase:P49366, NCBI Gene:1725, OMIM:600944, RefSeq DNA:NT_011295, RefSeq Protein:NP_001193903, RefSeq Protein:NP_001921, RefSeq Protein:NP_037538, RefSeq Protein:NP_037539, RefSeq RNA:NM_001206974, RefSeq RNA:NM_001930, RefSeq RNA:NM_013406, RefSeq RNA:NM_013407, RefSeq RNA:NR_038192, UCSC Genome Browser:NM_001930, UniProtKB:P49366 No chr19 12786531 12792701 12672164 12681887 +PA134914102 115817 HGNC:16445 ENSG00000157379 dehydrogenase/reductase 1 DHRS1 """dehydrogenase/reductase (SDR family) member 1"", ""short chain dehydrogenase/reductase family 19C, member 1""" FLJ25430, MGC20204, SDR19C1 Yes No Comparative Toxicogenomics Database:115817, Ensembl:ENSG00000157379, GeneCard:DHRS1, HGNC:HGNC:16445, HumanCyc Gene:HS08208, ModBase:Q96LJ7, NCBI Gene:115817, OMIM:610410, RefSeq DNA:NT_026437, RefSeq Protein:NP_001129522, RefSeq Protein:NP_612461, RefSeq RNA:NM_001136050, RefSeq RNA:NM_138452, UniProtKB:Q96LJ7 No chr14 24759804 24769039 24290598 24299833 +PA164718841 79154 HGNC:28639 ENSG00000278535 dehydrogenase/reductase 11 DHRS11 """dehydrogenase/reductase (SDR family) member 11"", ""short chain dehydrogenase/reductase family 24C, member 1""" MGC4172, SDR24C1 Yes No Ensembl:ENSG00000278535, GeneCard:DHRS11, HGNC:HGNC:28639, HumanCyc Gene:HS03080, NCBI Gene:79154, RefSeq DNA:NT_010783, RefSeq Protein:NP_077284, RefSeq RNA:NM_024308, UniProtKB:Q6UWP2 No chr17 34948226 34957233 36591791 36600804 +PA147358124 79758 HGNC:25832 ENSG00000102796 dehydrogenase/reductase 12 DHRS12 """dehydrogenase/reductase (SDR family) member 12"", ""short chain dehydrogenase/reductase family 40C, member 1""" FLJ13639, SDR40C1 Yes No Ensembl:ENSG00000102796, GeneCard:DHRS12, HGNC:HGNC:25832, HumanCyc Gene:HS12492, NCBI Gene:79758, RefSeq DNA:NT_024524, RefSeq Protein:NP_001026889, RefSeq Protein:NP_078981, RefSeq RNA:NM_001031719, RefSeq RNA:NM_024705, UniProtKB:A0PJE2 No chr13 52330614 52379667 51754856 51804206 +PA147358144 147015 HGNC:28326 ENSG00000167536 dehydrogenase/reductase 13 DHRS13 """dehydrogenase/reductase (SDR family) member 13"", ""short chain dehydrogenase/reductase family 7C, member 5""" MGC23280, SDR7C5 Yes No Comparative Toxicogenomics Database:147015, Ensembl:ENSG00000167536, GeneCard:DHRS13, HGNC:HGNC:28326, HumanCyc Gene:HS09573, ModBase:Q6UX07, NCBI Gene:147015, RefSeq DNA:NT_010799, RefSeq Protein:NP_653284, RefSeq RNA:NM_144683, UniProtKB:Q6UX07 No chr17 27224799 27230089 28897781 28903071 +PA38318 10202 HGNC:18349 ENSG00000100867 dehydrogenase/reductase 2 DHRS2 """dehydrogenase/reductase (SDR family) member 2"", ""short chain dehydrogenase/reductase family 25C, member 1""" HEP27, SDR25C1 Yes No Comparative Toxicogenomics Database:10202, Ensembl:ENSG00000100867, GenAtlas:DHRS2, GeneCard:DHRS2, HGNC:HGNC:18349, HumanCyc Gene:HS02156, ModBase:Q13268, NCBI Gene:10202, RefSeq DNA:NT_026437, RefSeq Protein:NP_005785, RefSeq Protein:NP_878912, RefSeq RNA:NM_005794, RefSeq RNA:NM_182908, UCSC Genome Browser:NM_005794, UniProtKB:Q13268 No chr14 24099324 24114848 23630115 23645639 +PA134952810 9249 HGNC:17693 ENSG00000162496 dehydrogenase/reductase 3 DHRS3 """copy number amplified long noncoding RNA in papillary thyroid cancer 1"", ""dehydrogenase/reductase (SDR family) member 3"", ""short chain dehydrogenase/reductase family 16C, member 1""" CNALPTC1, RDH17, Rsdr1, SDR1, SDR16C1, retSDR1 Yes No Comparative Toxicogenomics Database:9249, Ensembl:ENSG00000162496, GeneCard:DHRS3, HGNC:HGNC:17693, HumanCyc Gene:HS08684, ModBase:O75911, NCBI Gene:9249, OMIM:612830, RefSeq DNA:NT_021937, RefSeq Protein:NP_004744, RefSeq RNA:NM_004753, UniProtKB:O75911 No chr1 12627939 12677820 12567910 12618361 +PA128395792 10901 HGNC:16985 ENSG00000157326 dehydrogenase/reductase 4 DHRS4 """dehydrogenase/reductase (SDR family) member 4"", ""short chain dehydrogenase/reductase family 25C, member 2""" FLJ11008, SCAD-SRL, SDR-SRL, SDR25C2, humNRDR Yes No Comparative Toxicogenomics Database:10901, Ensembl:ENSG00000157326, GeneCard:DHRS4, HGNC:HGNC:16985, HumanCyc Gene:HS08202, ModBase:Q6UWU3, NCBI Gene:10901, OMIM:611596, RefSeq DNA:NT_026437, RefSeq Protein:NP_066284, RefSeq RNA:NM_021004, UCSC Genome Browser:NM_021004, UniProtKB:Q9BTZ2 No chr14 24422944 24438488 23953735 23969279 +PA134961149 55449 HGNC:23175 ENSG00000215256 DHRS4 antisense RNA 1 DHRS4-AS1 AS1DHRS4, PRO1488 Yes No Ensembl:ENSG00000215256, GeneCard:C14orf167, HGNC:HGNC:23175, NCBI Gene:55449, RefSeq DNA:NT_026437, RefSeq RNA:NR_023921, RefSeq RNA:NR_023922, RefSeq RNA:NR_023923, RefSeq RNA:NR_023924 No chr14 24407940 24424298 23938731 23955112 +PA134878665 728635 HGNC:19732 ENSG00000225766 dehydrogenase/reductase (SDR family) member 4 like 1 DHRS4L1 short chain dehydrogenase/reductase family 25C, member 4 SDR25C4 Yes Yes Ensembl:ENSG00000225766, GeneCard:DHRS4L1, HGNC:HGNC:19732, NCBI Gene:728635, RefSeq DNA:NT_026437, RefSeq Protein:NP_001075957, RefSeq RNA:NM_001082488, UniProtKB:P0CG22 No chr14 24476218 24520586 24007009 24051377 +PA134930167 317749 HGNC:19731 ENSG00000187630 dehydrogenase/reductase 4 like 2 DHRS4L2 """dehydrogenase/reductase (SDR family) member 4 like 2"", ""short chain dehydrogenase/reductase family 25C, member 3""" SDR25C3 Yes No Ensembl:ENSG00000187630, GeneCard:DHRS4L2, HGNC:HGNC:19731, ModBase:Q6PKH6, NCBI Gene:317749, RefSeq DNA:NG_023545, RefSeq DNA:NT_026437, RefSeq Protein:NP_001180564, RefSeq Protein:NP_001180565, RefSeq Protein:NP_001180566, RefSeq Protein:NP_932349, RefSeq RNA:NM_001193635, RefSeq RNA:NM_001193636, RefSeq RNA:NM_001193637, RefSeq RNA:NM_198083 No chr14 24439083 24475617 23969874 24006408 +PA134974539 51635 HGNC:21524 ENSG00000100612 dehydrogenase/reductase 7 DHRS7 """dehydrogenase/reductase (SDR family) member 7"", ""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1""" SDR34C1, retDSR4 Yes No Comparative Toxicogenomics Database:51635, Ensembl:ENSG00000100612, GeneCard:DHRS7, HGNC:HGNC:21524, HumanCyc Gene:HS02124, ModBase:Q9Y394, NCBI Gene:51635, OMIM:612833, RefSeq DNA:NT_026437, RefSeq Protein:NP_057113, RefSeq RNA:NM_016029, UniProtKB:Q9Y394 No chr14 60611496 60633034 60144119 60169864 +PA142671976 25979 HGNC:24547 ENSG00000109016 dehydrogenase/reductase 7B DHRS7B """dehydrogenase/reductase (SDR family) member 7B"", ""short chain dehydrogenase/reductase family 32C, member 1""" CGI-93, DKFZp566O084, MGC8916, SDR32C1 Yes No Comparative Toxicogenomics Database:25979, Ensembl:ENSG00000109016, GeneCard:DHRS7B, HGNC:HGNC:24547, HumanCyc Gene:HS03186, ModBase:Q6IAN0, NCBI Gene:25979, RefSeq DNA:NT_010718, RefSeq Protein:NP_056325, RefSeq RNA:NM_015510, UniProtKB:Q6IAN0 No chr17 21030241 21095285 21123369 21191972 +PA142671977 201140 HGNC:32423 ENSG00000184544 dehydrogenase/reductase 7C DHRS7C """dehydrogenase/reductase (SDR family) member 7C"", ""short chain dehydrogenase/reductase family 32C, member 2""" SDR32C2 Yes No Ensembl:ENSG00000184544, GeneCard:DHRS7C, HGNC:HGNC:32423, NCBI Gene:201140, RefSeq DNA:NT_010718, RefSeq Protein:NP_001099041, RefSeq Protein:NP_001207422, RefSeq RNA:NM_001105571, RefSeq RNA:NM_001220493 No chr17 9674751 9694894 9771434 9791297 +PA134913654 10170 HGNC:16888 ENSG00000073737 dehydrogenase/reductase 9 DHRS9 """3-alpha hydroxysteroid dehydrogenase"", ""NADP-dependent retinol dehydrogenase/reductase"", ""dehydrogenase/reductase (SDR family) member 9"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4""" 3alpha-HSD, RDH15, RDHL, RETSDR8, SDR9C4 Yes No Comparative Toxicogenomics Database:10170, Ensembl:ENSG00000073737, GeneCard:DHRS9, HGNC:HGNC:16888, HumanCyc Gene:HS01113, ModBase:Q9BPW9, NCBI Gene:10170, OMIM:612131, RefSeq DNA:NT_005403, RefSeq Protein:NP_001135742, RefSeq Protein:NP_001135743, RefSeq Protein:NP_005762, RefSeq Protein:NP_954674, RefSeq RNA:NM_001142270, RefSeq RNA:NM_001142271, RefSeq RNA:NM_005771, RefSeq RNA:NM_199204, UniProtKB:Q9BPW9 No chr2 169921299 169952677 169067035 169096167 +PA27330 207063 HGNC:18399 ENSG00000169084 dehydrogenase/reductase X-linked DHRSX """dehydrogenase/reductase (SDR family) X-linked"", ""dehydrogenase/reductase (SDR family) Y-linked"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""short chain dehydrogenase/reductase family 7C, member 6""" DHRS5X, DHRS5Y, DHRSXY, DHRSY, SDR46C1, SDR7C6 Yes No Ensembl:ENSG00000169084, GenAtlas:DHRSX, GeneCard:DHRSX, HGNC:HGNC:18399, ModBase:Q8N5I4, NCBI Gene:207063, RefSeq DNA:NT_167197, RefSeq DNA:NT_167205, RefSeq Protein:NP_660160, RefSeq RNA:NM_145177, UCSC Genome Browser:NM_145177, UniProtKB:Q8N5I4 No chrX 2137547 2420836 2219506 2500974 +PA134962952 55526 HGNC:23537 ENSG00000181192 dehydrogenase E1 and transketolase domain containing 1 DHTKD1 2-oxoadipate dehydrogenase complex component E1 CMT2Q, DKFZP762M115, E1a, KIAA1630, MGC3090, OADC-E1, OADH-E1 Yes No Comparative Toxicogenomics Database:55526, Ensembl:ENSG00000181192, GeneCard:DHTKD1, HGNC:HGNC:23537, HumanCyc Gene:HS11585, ModBase:Q96HY7, NCBI Gene:55526, RefSeq DNA:NT_008705, RefSeq Protein:NP_061176, RefSeq RNA:NM_018706, UniProtKB:Q96HY7 No chr10 12110916 12165227 12068917 12123228 +PA27204 1665 HGNC:2738 ENSG00000109606 DEAH-box helicase 15 DHX15 DEAH (Asp-Glu-Ala-His) box helicase 15, DEAH (Asp-Glu-Ala-His) box polypeptide 15 DBP1, DDX15, HRH2, PRP43, PRPF43, PrPp43p Yes No Comparative Toxicogenomics Database:1665, Ensembl:ENSG00000109606, GeneCard:DHX15, HGNC:HGNC:2738, HumanCyc Gene:HS03241, ModBase:O43143, NCBI Gene:1665, OMIM:603403, RefSeq DNA:NT_006316, RefSeq Protein:NP_001349, RefSeq RNA:NM_001358, UCSC Genome Browser:NM_001358, UniProtKB:O43143 No chr4 24529087 24586184 24527464 24584603 +PA27205 8449 HGNC:2739 ENSG00000204560, ENSG00000226171, ENSG00000231377, ENSG00000233049, ENSG00000233418, ENSG00000233561 DEAH-box helicase 16 DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16, pre-mRNA processing factor 2 DBP2, DDX16, PRPF2, Prp2 Yes No Comparative Toxicogenomics Database:8449, Ensembl:ENSG00000204560, Ensembl:ENSG00000226171, Ensembl:ENSG00000231377, Ensembl:ENSG00000233049, Ensembl:ENSG00000233418, Ensembl:ENSG00000233561, GeneCard:DHX16, HGNC:HGNC:2739, HumanCyc Gene:HS06319, ModBase:O60231, NCBI Gene:8449, OMIM:603405, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001157711, RefSeq Protein:NP_003578, RefSeq RNA:NM_001164239, RefSeq RNA:NM_003587, UCSC Genome Browser:NM_003587, UniProtKB:B4DZ28, UniProtKB:O60231, UniProtKB:Q5SQH4 No chr6 30620896 30640830 30653119 30673053 +PA27215 54505 HGNC:15815 ENSG00000067248 DExH-box helicase 29 DHX29 DEAH (Asp-Glu-Ala-His) box polypeptide 29 DDX29 Yes No Comparative Toxicogenomics Database:54505, Ensembl:ENSG00000067248, GeneCard:DHX29, HGNC:HGNC:15815, HumanCyc Gene:HS00907, ModBase:Q7Z478, NCBI Gene:54505, OMIM:612720, RefSeq DNA:NT_006713, RefSeq Protein:NP_061903, RefSeq RNA:NM_019030, UCSC Genome Browser:NM_019030, UniProtKB:Q7Z478 No chr5 54552073 54603521 55256245 55307693 +PA27217 22907 HGNC:16716 ENSG00000132153 DExH-box helicase 30 DHX30 DEAH (Asp-Glu-Ala-His) box helicase 30, DEAH (Asp-Glu-Ala-His) box polypeptide 30 DDX30, FLJ11214, KIAA0890 Yes No Comparative Toxicogenomics Database:22907, Ensembl:ENSG00000132153, GeneCard:DHX30, HGNC:HGNC:16716, HumanCyc Gene:HS05599, ModBase:Q7L2E3, NCBI Gene:22907, RefSeq DNA:NT_022517, RefSeq Protein:NP_055781, RefSeq Protein:NP_619520, RefSeq RNA:NM_014966, RefSeq RNA:NM_138615, UCSC Genome Browser:NM_014966, UniProtKB:Q7L2E3 No chr3 47844399 47891686 47802909 47850196 +PA27219 55760 HGNC:16717 ENSG00000089876 DEAH-box helicase 32 (putative) DHX32 DEAD/H helicase-like protein 1, DEAH (Asp-Glu-Ala-His) box polypeptide 32, Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 DDX32, DHLP1, FLJ10694, FLJ10889 Yes No Ensembl:ENSG00000089876, GenAtlas:DHX32, GeneCard:DHX32, HGNC:HGNC:16717, HumanCyc Gene:HS01667, ModBase:Q9NV74, NCBI Gene:55760, OMIM:607960, RefSeq DNA:NT_030059, RefSeq Protein:NP_060650, RefSeq RNA:NM_018180, UCSC Genome Browser:NM_018180, UniProtKB:Q7L7V1 No chr10 127524909 127569884 125836337 125896483 +PA27220 56919 HGNC:16718 ENSG00000005100 DEAH-box helicase 33 DHX33 DEAH (Asp-Glu-Ala-His) box polypeptide 33 DDX33, DKFZp762F2011, FLJ21972 Yes No Comparative Toxicogenomics Database:56919, Ensembl:ENSG00000005100, GeneCard:DHX33, HGNC:HGNC:16718, HumanCyc Gene:HS00128, ModBase:Q9H6R0, NCBI Gene:56919, RefSeq DNA:NT_010718, RefSeq Protein:NP_001186628, RefSeq Protein:NP_064547, RefSeq RNA:NM_001199699, RefSeq RNA:NM_020162, UCSC Genome Browser:NM_020162, UniProtKB:Q9H6R0 No chr17 5344232 5372380 5440912 5469060 +PA27221 9704 HGNC:16719 ENSG00000134815 DExH-box helicase 34 DHX34 DEAH (Asp-Glu-Ala-His) box polypeptide 34 DDX34, KIAA0134 Yes No Ensembl:ENSG00000134815, GeneCard:DHX34, HGNC:HGNC:16719, HumanCyc Gene:HS05915, ModBase:Q14147, NCBI Gene:9704, RefSeq DNA:NT_011109, RefSeq Protein:NP_055496, RefSeq RNA:NM_014681, UCSC Genome Browser:NM_014681, UniProtKB:B4DMY8 No chr19 47852538 47885961 47349281 47382704 +PA27222 60625 HGNC:15861 ENSG00000101452 DEAH-box helicase 35 DHX35 DEAH (Asp-Glu-Ala-His) box polypeptide 35 C20orf15, DDX35, FLJ22759, KAIA0875 Yes No Comparative Toxicogenomics Database:60625, Ensembl:ENSG00000101452, GeneCard:DHX35, HGNC:HGNC:15861, HumanCyc Gene:HS02277, ModBase:Q9H5Z1, NCBI Gene:60625, RefSeq DNA:NT_011362, RefSeq Protein:NP_001177738, RefSeq Protein:NP_068750, RefSeq RNA:NM_001190809, RefSeq RNA:NM_021931, RefSeq RNA:NR_033905, UCSC Genome Browser:NM_021931, UniProtKB:Q9H5Z1 No chr20 37590981 37668366 38962338 39039723 +PA27223 170506 HGNC:14410 ENSG00000174953 DEAH-box helicase 36 DHX36 DEAH (Asp-Glu-Ala-His) box polypeptide 36, RNA helicase associated with AU-rich element DDX36, KIAA1488, MLEL1, RHAU Yes No Ensembl:ENSG00000174953, GeneCard:DHX36, HGNC:HGNC:14410, HumanCyc Gene:HS10856, ModBase:Q9H2U1, NCBI Gene:170506, OMIM:612767, RefSeq DNA:NT_005612, RefSeq Protein:NP_001107869, RefSeq Protein:NP_065916, RefSeq RNA:NM_001114397, RefSeq RNA:NM_020865, UCSC Genome Browser:NM_020865, UniProtKB:Q9H2U1 No chr3 153993452 154042286 154275668 154324497 +PA27224 57647 HGNC:17210 ENSG00000150990 DEAH-box helicase 37 DHX37 DEAH (Asp-Glu-Ala-His) box polypeptide 37 DDX37, Dhr1, KIAA1517, MGC2695, MGC4322 Yes No Ensembl:ENSG00000150990, GeneCard:DHX37, HGNC:HGNC:17210, HumanCyc Gene:HS07698, ModBase:Q8IY37, NCBI Gene:57647, RefSeq DNA:NT_009755, RefSeq Protein:NP_116045, RefSeq RNA:NM_032656, UCSC Genome Browser:NM_032656, UniProtKB:Q8IY37 No chr12 125431370 125473667 124946824 124989125 +PA27225 9785 HGNC:17211 ENSG00000140829 DEAH-box helicase 38 DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38, pre-mRNA processing factor 16 DDX38, KIAA0224, PRP16, PRPF16, hPrp16 Yes No Comparative Toxicogenomics Database:9785, Ensembl:ENSG00000140829, GeneCard:DHX38, HGNC:HGNC:17211, HumanCyc Gene:HS06762, ModBase:Q92620, NCBI Gene:9785, OMIM:605584, RefSeq DNA:NT_010498, RefSeq Protein:NP_054722, RefSeq RNA:NM_014003, UCSC Genome Browser:NM_014003, UniProtKB:Q92620 No chr16 72127615 72146811 72093665 72112912 +PA27227 79665 HGNC:18018 ENSG00000108406 DEAH-box helicase 40 DHX40 DEAH (Asp-Glu-Ala-His) box polypeptide 40 ARG147, DDX40, FLJ22060, PAD Yes No Comparative Toxicogenomics Database:79665, Ensembl:ENSG00000108406, GeneCard:DHX40, HGNC:HGNC:18018, HumanCyc Gene:HS03100, ModBase:Q8IX18, NCBI Gene:79665, OMIM:607570, RefSeq DNA:NT_010783, RefSeq Protein:NP_001159773, RefSeq Protein:NP_078888, RefSeq RNA:NM_001166301, RefSeq RNA:NM_024612, UCSC Genome Browser:NM_024612, UniProtKB:B4DR88, UniProtKB:Q8IX18 No chr17 57642886 57685713 59565525 59608352 +PA134919698 90957 HGNC:20086 ENSG00000163214 DExH-box helicase 57 DHX57 DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 DDX57 Yes No Comparative Toxicogenomics Database:90957, Ensembl:ENSG00000163214, GeneCard:DHX57, HGNC:HGNC:20086, HumanCyc Gene:HS08805, ModBase:Q6P158, NCBI Gene:90957, RefSeq DNA:NT_022184, RefSeq Protein:NP_945314, RefSeq RNA:NM_198963, UniProtKB:Q6P158, UniProtKB:Q8N4U2 No chr2 39024871 39103021 38797729 38875883 +PA162383566 79132 HGNC:29517 ENSG00000108771 DExH-box helicase 58 DHX58 DEXH (Asp-Glu-X-His) box polypeptide 58, RNA helicase LGP2 D11LGP2, LGP2 Yes No Ensembl:ENSG00000108771, GeneCard:DHX58, HGNC:HGNC:29517, HumanCyc Gene:HS03150, ModBase:Q96C10, NCBI Gene:79132, OMIM:608588, RefSeq DNA:NT_010783, RefSeq Protein:NP_077024, RefSeq RNA:NM_024119, UniProtKB:Q96C10 No chr17 40253422 40264751 42101404 42112733 +PA27231 1659 HGNC:2749 ENSG00000067596 DEAH-box helicase 8 DHX8 DEAH (Asp-Glu-Ala-His) box polypeptide 8 DDX8, Dhr2, HRH1, PRP22, PRPF22 Yes No Comparative Toxicogenomics Database:1659, Ensembl:ENSG00000067596, GeneCard:DHX8, HGNC:HGNC:2749, HumanCyc Gene:HS00911, ModBase:Q14562, NCBI Gene:1659, OMIM:600396, RefSeq DNA:NT_010783, RefSeq Protein:NP_004932, RefSeq RNA:NM_004941, UCSC Genome Browser:NM_004941, UniProtKB:Q14562 No chr17 41561330 41604185 43483865 43544787 +PA27232 1660 HGNC:2750 ENSG00000135829 DExH-box helicase 9 DHX9 DEAH (Asp-Glu-Ala-His) box helicase 9, DEAH (Asp-Glu-Ala-His) box polypeptide 9, NDH II, RNA helicase A, leukophysin, nuclear DNA helicase II DDX9, LKP, RHA Yes No Comparative Toxicogenomics Database:1660, Ensembl:ENSG00000135829, GeneCard:DHX9, HGNC:HGNC:2750, HumanCyc Gene:HS06070, ModBase:Q08211, NCBI Gene:1660, OMIM:603115, RefSeq DNA:NT_004487, RefSeq Protein:NP_001348, RefSeq RNA:NM_001357, RefSeq RNA:NR_033302, UCSC Genome Browser:NM_001357, UniProtKB:B3KU66, UniProtKB:Q08211 No chr1 182808439 182857117 182839304 182887982 +PA27233 1661 HGNC:2751 ENSG00000228002 DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 1 DHX9P1 Yes No Ensembl:ENSG00000228002, GeneCard:DHX9P1, HGNC:HGNC:2751, NCBI Gene:1661, RefSeq DNA:NG_002657, RefSeq DNA:NG_009064, RefSeq DNA:NT_024524 No chr13 77558877 77563104 76984742 76988969 +PA134945044 56616 HGNC:21528 ENSG00000184047 diablo IAP-binding mitochondrial protein DIABLO """diablo, IAP-binding mitochondrial protein"", ""second mitochondria-derived activator of caspase""" DFNA64, DIABLO-S, FLJ10537, FLJ25049, SMAC Yes No Comparative Toxicogenomics Database:56616, Ensembl:ENSG00000184047, GeneCard:DIABLO, HGNC:HGNC:21528, HumanCyc Gene:HS06652, ModBase:Q9NR28, NCBI Gene:56616, OMIM:605219, RefSeq DNA:NT_009755, RefSeq Protein:NP_063940, RefSeq Protein:NP_620307, RefSeq RNA:NM_019887, RefSeq RNA:NM_138929, RefSeq RNA:NR_024600, RefSeq RNA:NR_024601, UniProtKB:Q6W3F3, UniProtKB:Q9NR28 No chr12 122692209 122712081 122207662 122227534 +PA27333 1729 HGNC:2876 ENSG00000131504 diaphanous related formin 1 DIAPH1 diaphanous homolog 1 (Drosophila), diaphanous-related formin 1, mammalian diaphanous related formin 1 DFNA1, LFHL1, hDIA1, mDia1 Yes No Comparative Toxicogenomics Database:1729, Ensembl:ENSG00000131504, GenAtlas:DIAPH1, GeneCard:DIAPH1, HGNC:HGNC:2876, HumanCyc Gene:HS05541, ModBase:O60610, NCBI Gene:1729, OMIM:124900, OMIM:602121, RefSeq DNA:NG_011594, RefSeq DNA:NT_029289, RefSeq Protein:NP_001073280, RefSeq Protein:NP_005210, RefSeq RNA:NM_001079812, RefSeq RNA:NM_005219, UCSC Genome Browser:NM_005219, UniProtKB:O60610, UniProtKB:Q17RN4, UniProtKB:Q6URC4 No chr5 140894588 140998622 141515021 141619055 +PA27334 1730 HGNC:2877 ENSG00000147202 diaphanous related formin 2 DIAPH2 Premature ovarian failure 2A, diaphanous homolog 2 (Drosophila), diaphanous-related formin 2 DIA, DIA2, POF, POF2 Yes No Comparative Toxicogenomics Database:1730, Ensembl:ENSG00000147202, GenAtlas:DIAPH2, GeneCard:DIAPH2, HGNC:HGNC:2877, ModBase:O60879, NCBI Gene:1730, OMIM:300108, OMIM:300511, RefSeq DNA:NG_008433, RefSeq DNA:NT_011651, RefSeq Protein:NP_006720, RefSeq Protein:NP_009293, RefSeq RNA:NM_006729, RefSeq RNA:NM_007309, UCSC Genome Browser:NM_006729, UniProtKB:O60879 No chrX 95939650 96855597 96684663 97600598 +PA27335 81624 HGNC:15480 ENSG00000139734 diaphanous related formin 3 DIAPH3 diaphanous homolog 3 (Drosophila), diaphanous-related formin 3 AN, AUNA1, DRF3, FLJ34705, NSDAN Yes Yes Ensembl:ENSG00000139734, GenAtlas:DIAPH3, GeneCard:DIAPH3, HGNC:HGNC:15480, HumanCyc Gene:HS06655, ModBase:Q3ZK23, NCBI Gene:81624, RefSeq DNA:NT_024524, RefSeq Protein:NP_001035982, RefSeq Protein:NP_112194, RefSeq RNA:NM_001042517, RefSeq RNA:NM_030932, UCSC Genome Browser:NM_030932, UniProtKB:Q9NSV4 No chr13 60239717 60738119 59665583 60163985 +PA38437 23405 HGNC:17098 ENSG00000100697 dicer 1, ribonuclease III DICER1 """dicer 1, double-stranded RNA-specific endoribonuclease"", ""dicer 1, ribonuclease type III""" Dicer, HERNA, K12H4.8-LIKE, KIAA0928, MNG1 Yes No Comparative Toxicogenomics Database:23405, Ensembl:ENSG00000100697, GenAtlas:DICER1, GeneCard:DICER1, HGNC:HGNC:17098, HumanCyc Gene:HS02136, ModBase:Q9UPY3, NCBI Gene:23405, OMIM:601200, OMIM:606241, RefSeq DNA:NG_016311, RefSeq DNA:NT_026437, RefSeq Protein:NP_001182502, RefSeq Protein:NP_085124, RefSeq Protein:NP_803187, RefSeq RNA:NM_001195573, RefSeq RNA:NM_030621, RefSeq RNA:NM_177438, UCSC Genome Browser:NM_030621, UniProtKB:Q9UPY3 No chr14 95552565 95623759 95086228 95158010 +PA27147 11083 HGNC:2680 ENSG00000101191 death inducer-obliterator 1 DIDO1 BYE1, C20orf158, DATF1, DIO-1, DIO1, FLJ11265, KIAA0333, dJ885L7.8 Yes No Ensembl:ENSG00000101191, GenAtlas:DIDO1, GeneCard:DIDO1, HGNC:HGNC:2680, HumanCyc Gene:HS02214, ModBase:Q9BQW0, NCBI Gene:11083, OMIM:604140, RefSeq DNA:NT_011333, RefSeq Protein:NP_001180298, RefSeq Protein:NP_001180299, RefSeq Protein:NP_071388, RefSeq Protein:NP_149072, RefSeq Protein:NP_542986, RefSeq Protein:NP_542987, RefSeq RNA:NM_001193369, RefSeq RNA:NM_001193370, RefSeq RNA:NM_022105, RefSeq RNA:NM_033081, RefSeq RNA:NM_080796, RefSeq RNA:NM_080797, UCSC Genome Browser:NM_022105, UniProtKB:Q9BTC0 No chr20 61509090 61569304 62877738 62937952 +PA162383599 27292 HGNC:30217 ENSG00000086189 DIM1 rRNA methyltransferase and ribosome maturation factor DIMT1 DIM1 dimethyladenosine transferase 1 homolog, DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae), DIMT1 rRNA methyltransferase and ribosome maturation factor DIMT1L, HSA9761 Yes No Ensembl:ENSG00000086189, GeneCard:DIMT1L, HGNC:HGNC:30217, HumanCyc Gene:HS01523, ModBase:Q9UNQ2, NCBI Gene:27292, OMIM:612499, RefSeq DNA:NT_006713, RefSeq Protein:NP_055288, RefSeq RNA:NM_014473, UniProtKB:Q9UNQ2 No chr5 61684351 61699728 62388523 62403939 +PA27337 1733 HGNC:2883 ENSG00000211452 iodothyronine deiodinase 1 DIO1 """deiodinase, iodothyronine, type I"", ""selenoprotein DIO1"", ""thyroxine 5'-deiodinase"", ""type I iodothyronine deiodinase""" TXDI1 Yes Yes Comparative Toxicogenomics Database:1733, Ensembl:ENSG00000211452, GenAtlas:DIO1, GeneCard:DIO1, HGNC:HGNC:2883, HumanCyc Gene:HS11580, ModBase:Q6Q4C6, NCBI Gene:1733, OMIM:147892, RefSeq DNA:NG_023306, RefSeq DNA:NT_032977, RefSeq Protein:NP_000783, RefSeq Protein:NP_001034804, RefSeq Protein:NP_001034805, RefSeq Protein:NP_998758, RefSeq RNA:NM_000792, RefSeq RNA:NM_001039715, RefSeq RNA:NM_001039716, RefSeq RNA:NM_213593, UCSC Genome Browser:NM_000792, UniProtKB:P49895 No chr1 54359860 54376763 53894187 53911086 +PA27338 1734 HGNC:2884 ENSG00000211448 iodothyronine deiodinase 2 DIO2 """deiodinase, iodothyronine, type II"", ""deiodinase-2"", ""deiodonase-2"", ""selenoprotein Y"", ""thyroxine deiodinase, type II""" SELENOY, SelY, TXDI2 Yes Yes Comparative Toxicogenomics Database:1734, Ensembl:ENSG00000211448, GenAtlas:DIO2, GeneCard:DIO2, HGNC:HGNC:2884, HumanCyc Gene:HS00008, ModBase:Q92813, NCBI Gene:1734, OMIM:601413, RefSeq DNA:NT_026437, RefSeq Protein:NP_000784, RefSeq Protein:NP_001007024, RefSeq Protein:NP_001229431, RefSeq Protein:NP_001229432, RefSeq Protein:NP_054644, RefSeq RNA:NM_000793, RefSeq RNA:NM_001007023, RefSeq RNA:NM_001242503, RefSeq RNA:NM_013989, RefSeq RNA:NR_158991, UCSC Genome Browser:NM_000793, UniProtKB:Q6P525, UniProtKB:Q92813 No chr14 80663868 80697397 80197525 80231054 +PA27339 1735 HGNC:2885 ENSG00000197406 iodothyronine deiodinase 3 DIO3 """deiodinase, iodothyronine, type III"", ""selenoprotein DIO3"", ""thyroxine 5-deiodinase""" TXDI3 Yes No Comparative Toxicogenomics Database:1735, Ensembl:ENSG00000197406, GenAtlas:DIO3, GeneCard:DIO3, HGNC:HGNC:2885, HumanCyc Gene:HS11928, ModBase:P55073, NCBI Gene:1735, OMIM:601038, RefSeq DNA:NT_026437, RefSeq Protein:NP_001353, RefSeq RNA:NM_001362, UCSC Genome Browser:NM_001362, UniProtKB:P55073, UniProtKB:Q86TU3 No chr14 102027688 102029789 101561351 101563452 +PA134973275 64150 HGNC:20348 ENSG00000258498 DIO3 opposite strand/antisense RNA (head to head) DIO3OS non-protein coding RNA 41 DIO3-AS1, NCRNA00041 Yes No Ensembl:ENSG00000258498, GeneCard:DIO3OS, HGNC:HGNC:20348, NCBI Gene:64150, OMIM:608523, RefSeq DNA:NT_026437, RefSeq RNA:NR_002770 No chr14 102018560 102022013 101552223 101555676 +PA134888233 23181 HGNC:17217 ENSG00000160305 disco interacting protein 2 homolog A DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) C21orf106, Dip2, KIAA0184 Yes No Comparative Toxicogenomics Database:23181, Ensembl:ENSG00000160305, GeneCard:DIP2A, HGNC:HGNC:17217, HumanCyc Gene:HS08484, ModBase:Q14689, NCBI Gene:23181, OMIM:607711, RefSeq DNA:NG_015996, RefSeq DNA:NT_011515, RefSeq Protein:NP_001139586, RefSeq Protein:NP_001139587, RefSeq Protein:NP_001139588, RefSeq Protein:NP_055966, RefSeq Protein:NP_996772, RefSeq Protein:NP_996773, RefSeq Protein:NP_996774, RefSeq RNA:NM_001146114, RefSeq RNA:NM_001146115, RefSeq RNA:NM_001146116, RefSeq RNA:NM_015151, RefSeq RNA:NM_206889, RefSeq RNA:NM_206890, RefSeq RNA:NM_206891, UniProtKB:B4E0F0, UniProtKB:Q14689, UniProtKB:Q96NX2 No chr21 47878862 47989926 46458942 46570900 +PA143485449 57609 HGNC:29284 ENSG00000066084 disco interacting protein 2 homolog B DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila) FLJ34278, KIAA1463 Yes No Comparative Toxicogenomics Database:57609, Ensembl:ENSG00000066084, GeneCard:DIP2B, HGNC:HGNC:29284, ModBase:Q9P265, NCBI Gene:57609, OMIM:136630, OMIM:611379, RefSeq DNA:NG_021196, RefSeq DNA:NT_029419, RefSeq Protein:NP_775873, RefSeq RNA:NM_173602, UniProtKB:Q7Z3H2, UniProtKB:Q96IB4, UniProtKB:Q9P265 No chr12 50898768 51142450 50504985 50748667 +PA134961070 22982 HGNC:29150 ENSG00000151240 disco interacting protein 2 homolog C DIP2C DIP2 disco-interacting protein 2 homolog C (Drosophila) KIAA0934 Yes No Comparative Toxicogenomics Database:22982, Ensembl:ENSG00000151240, GeneCard:DIP2C, HGNC:HGNC:29150, ModBase:Q9Y2E4, NCBI Gene:22982, OMIM:611380, RefSeq DNA:NT_008705, RefSeq Protein:NP_055789, RefSeq RNA:NM_014974, UniProtKB:Q86XV3, UniProtKB:Q9Y2E4 No chr10 320130 735621 274190 689710 +PA142671883 388650 HGNC:32213 ENSG00000154511 divergent protein kinase domain 1A DIPK1A family with sequence similarity 69, member A FAM69A, FLJ23493 Yes No Ensembl:ENSG00000154511, GeneCard:FAM69A, HGNC:HGNC:32213, NCBI Gene:388650, RefSeq DNA:NT_032977, RefSeq Protein:NP_001006606, RefSeq RNA:NM_001006605, UniProtKB:Q5T7M9 No chr1 93298286 93427079 92832729 92961522 +PA142671884 138311 HGNC:28290 ENSG00000165716 divergent protein kinase domain 1B DIPK1B family with sequence similarity 69, member B C9orf136, FAM69B, MGC20262 Yes No Ensembl:ENSG00000165716, GeneCard:FAM69B, HGNC:HGNC:28290, HumanCyc Gene:HS15358, ModBase:Q5VUD6, NCBI Gene:138311, RefSeq DNA:NT_024000, RefSeq Protein:NP_689634, RefSeq RNA:NM_152421, UniProtKB:Q5VUD6 No chr9 139607024 139619170 136712572 136724718 +PA165428999 125704 HGNC:31729 ENSG00000187773 divergent protein kinase domain 1C DIPK1C family with sequence similarity 69, member C C18orf51, FAM69C Yes No Ensembl:ENSG00000187773, GeneCard:FAM69C, HGNC:HGNC:31729, NCBI Gene:125704, RefSeq DNA:NT_025028, RefSeq Protein:NP_001037834, RefSeq RNA:NM_001044369, RefSeq RNA:XM_058931, RefSeq RNA:XM_941186, RefSeq RNA:XM_945013, UniProtKB:Q0P6D2 No chr18 72102963 72125070 74432575 74464646 +PA143485334 205428 HGNC:28490 ENSG00000181744 divergent protein kinase domain 2A DIPK2A chromosome 3 open reading frame 58, deleted in autism 1, hypoxia and Akt induced stem cell factor C3orf58, DIA1, HASF, MGC33365 Yes No Comparative Toxicogenomics Database:205428, Ensembl:ENSG00000181744, GeneCard:C3orf58, HGNC:HGNC:28490, HumanCyc Gene:HS17720, ModBase:Q8NDZ4, NCBI Gene:205428, OMIM:612200, RefSeq DNA:NT_005612, RefSeq Protein:NP_001127942, RefSeq Protein:NP_775823, RefSeq RNA:NM_001134470, RefSeq RNA:NM_173552, UniProtKB:B3KTD4, UniProtKB:B7Z1W3, UniProtKB:Q8NDZ4 No chr3 143690640 143711210 143971798 143992368 +PA134972038 79742 HGNC:25866 ENSG00000147113 divergent protein kinase domain 2B DIPK2B chromosome X open reading frame 36 CXorf36, DIA1R, FLJ14103 Yes No Ensembl:ENSG00000147113, GeneCard:CXorf36, HGNC:HGNC:25866, HumanCyc Gene:HS14192, NCBI Gene:79742, RefSeq DNA:NT_079573, RefSeq Protein:NP_078965, RefSeq Protein:NP_789789, RefSeq RNA:NM_024689, RefSeq RNA:NM_176819, UniProtKB:Q9H7Y0 No chrX 45007618 45060146 45148373 45200901 +PA134951835 148252 HGNC:19127 ENSG00000176490 DIRAS family GTPase 1 DIRAS1 """DIRAS family, GTP-binding RAS-like 1"", ""Ras-related inhibitor of cell growth"", ""distinct subgroup of the Ras family member 1"", ""small GTP-binding tumor suppressor 1""" Di-Ras1, GBTS1, RIG Yes No Ensembl:ENSG00000176490, GeneCard:DIRAS1, HGNC:HGNC:19127, HumanCyc Gene:HS11054, ModBase:O95057, NCBI Gene:148252, OMIM:607862, RefSeq DNA:NT_011255, RefSeq Protein:NP_660156, RefSeq RNA:NM_145173, UniProtKB:O95057 No chr19 2714565 2721390 2714567 2721392 +PA134958969 54769 HGNC:19323 ENSG00000165023 DIRAS family GTPase 2 DIRAS2 """DIRAS family, GTP-binding RAS-like 2"", ""distinct subgroup of the Ras family member 2""" DKFZp761C07121, Di-Ras2 Yes No Ensembl:ENSG00000165023, GeneCard:DIRAS2, HGNC:HGNC:19323, HumanCyc Gene:HS09171, ModBase:Q96HU8, NCBI Gene:54769, OMIM:607863, RefSeq DNA:NT_008470, RefSeq Protein:NP_060064, RefSeq RNA:NM_017594, UniProtKB:Q96HU8 No chr9 93372114 93405108 90609832 90643105 +PA24980 9077 HGNC:687 ENSG00000162595 DIRAS family GTPase 3 DIRAS3 """DIRAS family, GTP-binding RAS-like 3"", ""GTP-binding protein Di-Ras3"", ""distinct subgroup of the Ras family member 3""" ARHI, NOEY2 Yes No Ensembl:ENSG00000162595, GenAtlas:DIRAS3, GeneCard:DIRAS3, HGNC:HGNC:687, HumanCyc Gene:HS08697, ModBase:O95661, NCBI Gene:9077, OMIM:605193, RefSeq DNA:NG_011753, RefSeq DNA:NT_032977, RefSeq Protein:NP_004666, RefSeq RNA:NM_004675, UCSC Genome Browser:NM_004675, UniProtKB:O95661 No chr1 68511645 68517314 68045962 68051762 +PA27340 116093 HGNC:15760 ENSG00000174325 disrupted in renal carcinoma 1 DIRC1 Yes No Ensembl:ENSG00000174325, GenAtlas:DIRC1, GeneCard:DIRC1, HGNC:HGNC:15760, HumanCyc Gene:HS16319, NCBI Gene:116093, OMIM:606423, RefSeq DNA:NT_005403, RefSeq Protein:NP_443184, RefSeq RNA:NM_052952, UCSC Genome Browser:NM_052952, UniProtKB:Q969H9 No chr2 189598465 189654831 188733738 188790104 +PA134944938 729582 HGNC:17805 ENSG00000231672 disrupted in renal carcinoma 3 DIRC3 FLJ14199 Yes No Ensembl:ENSG00000231672, GeneCard:DIRC3, HGNC:HGNC:17805, NCBI Gene:729582, OMIM:608262, RefSeq DNA:NT_005403, RefSeq RNA:NR_026597 No chr2 218148746 218621316 217284023 217756593 +PA162383628 22894 HGNC:20604 ENSG00000083520 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease DIS3 DIS3 exosome endoribonuclease and 3'-5' exoribonuclease, DIS3 mitotic control homolog (S. cerevisiae), exosome component 11 EXOSC11, KIAA1008, RRP44, dis3p Yes No Ensembl:ENSG00000083520, GeneCard:DIS3, HGNC:HGNC:20604, HumanCyc Gene:HS01443, ModBase:Q9UG36, NCBI Gene:22894, OMIM:607533, RefSeq DNA:NT_024524, RefSeq Protein:NP_001121698, RefSeq Protein:NP_055768, RefSeq RNA:NM_001128226, RefSeq RNA:NM_014953, UniProtKB:Q9Y2L1 No chr13 73329540 73356344 72755402 72782128 +PA162383675 115752 HGNC:28698 ENSG00000166938 DIS3 like exosome 3'-5' exoribonuclease DIS3L DIS3 mitotic control homolog (S. cerevisiae)-like DIS3L1, FLJ38088, KIAA1955, MGC4562 Yes No Ensembl:ENSG00000166938, GeneCard:DIS3L, HGNC:HGNC:28698, HumanCyc Gene:HS09485, NCBI Gene:115752, RefSeq DNA:NT_010194, RefSeq Protein:NP_001137160, RefSeq Protein:NP_588616, RefSeq RNA:NM_001143688, RefSeq RNA:NM_133375, UniProtKB:Q8TF46 No chr15 66585633 66626236 66293257 66333898 +PA162383714 129563 HGNC:28648 ENSG00000144535 DIS3 like 3'-5' exoribonuclease 2 DIS3L2 DIS3 mitotic control homolog (S. cerevisiae)-like 2 FAM6A, FLJ36974, MGC42174 Yes No Ensembl:ENSG00000144535, GeneCard:DIS3L2, HGNC:HGNC:28648, HumanCyc Gene:HS07178, NCBI Gene:129563, RefSeq DNA:NT_005403, RefSeq Protein:NP_689596, RefSeq RNA:NM_152383, UniProtKB:Q8IYB7 No chr2 232826293 233208678 231961583 232343968 +PA134949171 282697 HGNC:14021 ENSG00000223788 DIS3 mitotic control homolog (S. cerevisiae)-like 2 pseudogene 1 DIS3L2P1 Yes No Ensembl:ENSG00000223788, HGNC:HGNC:14021, NCBI Gene:282697 No chr2 233306749 233312676 232442032 232447966 +PA27342 27185 HGNC:2888 ENSG00000162946 DISC1 scaffold protein DISC1 disrupted in schizophrenia 1 Yes No Comparative Toxicogenomics Database:27185, Ensembl:ENSG00000162946, GenAtlas:DISC1, GeneCard:DISC1, HGNC:HGNC:2888, HumanCyc Gene:HS08762, ModBase:Q9NRI4, NCBI Gene:27185, OMIM:181500, OMIM:604906, OMIM:605210, RefSeq DNA:NG_011681, RefSeq DNA:NT_167186, RefSeq Protein:NP_001012975, RefSeq Protein:NP_001012976, RefSeq Protein:NP_001012977, RefSeq Protein:NP_001158009, RefSeq Protein:NP_001158010, RefSeq Protein:NP_001158011, RefSeq Protein:NP_001158012, RefSeq Protein:NP_001158013, RefSeq Protein:NP_001158014, RefSeq Protein:NP_001158016, RefSeq Protein:NP_001158017, RefSeq Protein:NP_001158018, RefSeq Protein:NP_001158019, RefSeq Protein:NP_001158020, RefSeq Protein:NP_001158021, RefSeq Protein:NP_001158022, RefSeq Protein:NP_001158023, RefSeq Protein:NP_001158024, RefSeq Protein:NP_001158025, RefSeq Protein:NP_001158026, RefSeq Protein:NP_001158027, RefSeq Protein:NP_001158028, RefSeq Protein:NP_061132, RefSeq RNA:NM_001012957, RefSeq RNA:NM_001012958, RefSeq RNA:NM_001012959, RefSeq RNA:NM_001164537, RefSeq RNA:NM_001164538, RefSeq RNA:NM_001164539, RefSeq RNA:NM_001164540, RefSeq RNA:NM_001164541, RefSeq RNA:NM_001164542, RefSeq RNA:NM_001164544, RefSeq RNA:NM_001164545, RefSeq RNA:NM_001164546, RefSeq RNA:NM_001164547, RefSeq RNA:NM_001164548, RefSeq RNA:NM_001164549, RefSeq RNA:NM_001164550, RefSeq RNA:NM_001164551, RefSeq RNA:NM_001164552, RefSeq RNA:NM_001164553, RefSeq RNA:NM_001164554, RefSeq RNA:NM_001164555, RefSeq RNA:NM_001164556, RefSeq RNA:NM_018662, UCSC Genome Browser:NM_018662, UniProtKB:C4P091, UniProtKB:C4P095, UniProtKB:C4P098, UniProtKB:C4P0A1, UniProtKB:C4P0A3, UniProtKB:C4P0A4, UniProtKB:C4P0A5, UniProtKB:C4P0B3, UniProtKB:C4P0B6, UniProtKB:C4P0C4, UniProtKB:C4P0C8, UniProtKB:C4P0D0, UniProtKB:C4P0D1, UniProtKB:C4P0D3, UniProtKB:C9J6D0, UniProtKB:Q9NRI5 No chr1 231762561 232177018 231626815 232041272 +PA27343 27184 HGNC:2889 disrupted in schizophrenia 2 (non-protein coding) DISC2 DISC1 antisense RNA 1, non-protein coding RNA 15 DISC1-AS1, DISC1OS, NCRNA00015 Yes No Comparative Toxicogenomics Database:27184, GenAtlas:DISC2, GeneCard:DISC2, HGNC:HGNC:2889, NCBI Gene:27184, OMIM:181500, OMIM:606271, RefSeq DNA:NT_167186, RefSeq RNA:NR_002227 No chr1 231950372 231954263 231814626 231818517 +PA134938043 84976 HGNC:19711 ENSG00000154309 dispatched RND transporter family member 1 DISP1 dispatched homolog 1 (Drosophila) DISPA, DKFZP434I0428, MGC13130, MGC16796 Yes Yes Ensembl:ENSG00000154309, GeneCard:DISP1, HGNC:HGNC:19711, HumanCyc Gene:HS07971, ModBase:Q96F81, NCBI Gene:84976, OMIM:607502, RefSeq DNA:NG_009243, RefSeq DNA:NT_167186, RefSeq Protein:NP_116279, RefSeq RNA:NM_032890, UniProtKB:B3KPN9, UniProtKB:Q96F81 No chr1 222988342 223179337 222814514 223005995 +PA134876083 85455 HGNC:19712 ENSG00000140323 dispatched RND transporter family member 2 DISP2 dispatched homolog 2 (Drosophila) C15orf36, DISPB, HsT16908, KIAA1742, LINC00594 Yes No Comparative Toxicogenomics Database:85455, Ensembl:ENSG00000140323, GeneCard:DISP2, HGNC:HGNC:19712, HumanCyc Gene:HS13824, ModBase:A7MBM2, NCBI Gene:85455, OMIM:607503, RefSeq DNA:NT_010194, RefSeq Protein:NP_277045, RefSeq RNA:NM_033510, UniProtKB:A7MBM2 No chr15 40650434 40663256 40354359 40378755 +PA142671116 57540 HGNC:29251 ENSG00000204624 dispatched RND transporter family member 3 DISP3 dispatched homolog 3 (Drosophila), patched domain containing 2 DISP3, KIAA1337, PTCHD2 Yes No Ensembl:ENSG00000204624, GeneCard:PTCHD2, HGNC:HGNC:29251, ModBase:Q9P2K9, NCBI Gene:57540, OMIM:611251, RefSeq DNA:NT_021937, RefSeq Protein:NP_065831, RefSeq RNA:NM_020780, UniProtKB:Q9P2K9 No chr1 11539295 11597640 11479155 11537583 +PA134988674 85458 HGNC:23695 ENSG00000150764 DIX domain containing 1 DIXDC1 Dixin, KIAA1735 Yes No Comparative Toxicogenomics Database:85458, Ensembl:ENSG00000150764, GeneCard:DIXDC1, HGNC:HGNC:23695, ModBase:Q155Q3, NCBI Gene:85458, OMIM:610493, RefSeq DNA:NT_033899, RefSeq Protein:NP_001033043, RefSeq Protein:NP_219493, RefSeq RNA:NM_001037954, RefSeq RNA:NM_033425, UniProtKB:Q155Q3 No chr11 111797868 111893374 111927144 112022650 +PA27344 1736 HGNC:2890 ENSG00000130826 dyskerin pseudouridine synthase 1 DKC1 """H/ACA ribonucleoprotein complex subunit 4"", ""dyskeratosis congenita 1, dyskerin""" Cbf5, DKC, NAP57, NOLA4, XAP101, dyskerin Yes No Comparative Toxicogenomics Database:1736, Ensembl:ENSG00000130826, GenAtlas:DKC1, GeneCard:DKC1, HGNC:HGNC:2890, HumanCyc Gene:HS05451, ModBase:O60832, NCBI Gene:1736, OMIM:300126, OMIM:300240, OMIM:305000, RefSeq DNA:NG_009780, RefSeq DNA:NT_167198, RefSeq Protein:NP_001135935, RefSeq Protein:NP_001354, RefSeq RNA:NM_001142463, RefSeq RNA:NM_001363, UCSC Genome Browser:NM_001363, UniProtKB:O60832 No chrX 153991031 154005964 154762742 154777689 +PA27345 22943 HGNC:2891 ENSG00000107984 dickkopf WNT signaling pathway inhibitor 1 DKK1 dickkopf 1 homolog (Xenopus laevis) DKK-1, SK Yes Yes Comparative Toxicogenomics Database:22943, Ensembl:ENSG00000107984, GenAtlas:DKK1, GeneCard:DKK1, HGNC:HGNC:2891, HumanCyc Gene:HS03053, ModBase:O94907, NCBI Gene:22943, OMIM:605189, RefSeq DNA:NT_030059, RefSeq Protein:NP_036374, RefSeq RNA:NM_012242, UCSC Genome Browser:NM_012242, UniProtKB:O94907 No chr10 54074041 54077417 52314281 52317657 +PA27346 27123 HGNC:2892 ENSG00000155011 dickkopf WNT signaling pathway inhibitor 2 DKK2 dickkopf 2 homolog (Xenopus laevis) Yes No Comparative Toxicogenomics Database:27123, Ensembl:ENSG00000155011, GenAtlas:DKK2, GeneCard:DKK2, HGNC:HGNC:2892, HumanCyc Gene:HS08022, ModBase:Q9UBU2, NCBI Gene:27123, OMIM:605415, RefSeq DNA:NT_016354, RefSeq Protein:NP_055236, RefSeq RNA:NM_014421, UCSC Genome Browser:NM_014421, UniProtKB:Q9UBU2 No chr4 107842959 107957453 106921802 107036296 +PA27347 27122 HGNC:2893 ENSG00000050165 dickkopf WNT signaling pathway inhibitor 3 DKK3 cardiomyocyte regeneration-related lncRNA, dickkopf 3 homolog (Xenopus laevis), regulated in glioma CRRL, REIC, RIG Yes No Comparative Toxicogenomics Database:27122, Ensembl:ENSG00000050165, GenAtlas:DKK3, GeneCard:DKK3, HGNC:HGNC:2893, HumanCyc Gene:HS00630, ModBase:Q9UBP4, NCBI Gene:27122, OMIM:605416, RefSeq DNA:NT_009237, RefSeq Protein:NP_001018067, RefSeq Protein:NP_037385, RefSeq Protein:NP_056965, RefSeq RNA:NM_001018057, RefSeq RNA:NM_013253, RefSeq RNA:NM_015881, UCSC Genome Browser:NM_013253, UniProtKB:Q9UBP4 No chr11 11984543 12031373 11962996 12009370 +PA27348 27121 HGNC:2894 ENSG00000104371 dickkopf WNT signaling pathway inhibitor 4 DKK4 dickkopf homolog 4 (Xenopus laevis) Yes No Comparative Toxicogenomics Database:27121, Ensembl:ENSG00000104371, GenAtlas:DKK4, GeneCard:DKK4, HGNC:HGNC:2894, HumanCyc Gene:HS02574, ModBase:Q9UBT3, NCBI Gene:27121, OMIM:605417, RefSeq DNA:NT_167187, RefSeq Protein:NP_055235, RefSeq RNA:NM_014420, UCSC Genome Browser:NM_014420, UniProtKB:Q9UBT3 No chr8 42231586 42234674 42373194 42391322 +PA134974559 27120 HGNC:16528 ENSG00000104901 dickkopf like acrosomal protein 1 DKKL1 cancer/testis antigen 34, dickkopf-like 1, soggy CT34, SGY-1 Yes No Comparative Toxicogenomics Database:27120, Ensembl:ENSG00000104901, GeneCard:DKKL1, HGNC:HGNC:16528, HumanCyc Gene:HS02650, ModBase:Q9UK85, NCBI Gene:27120, OMIM:605418, RefSeq DNA:NT_011109, RefSeq Protein:NP_001184230, RefSeq Protein:NP_001184231, RefSeq Protein:NP_055234, RefSeq RNA:NM_001197301, RefSeq RNA:NM_001197302, RefSeq RNA:NM_014419, UniProtKB:Q9UK85 No chr19 49866466 49878373 49360520 49375132 +PA27349 128848 HGNC:16593 ENSG00000215546 dickkopf-like 1 pseudogene 1 DKKL1P1 dJ854E16.1 Yes No Ensembl:ENSG00000215546, GenAtlas:DKKL2, GeneCard:DKKL1P1, HGNC:HGNC:16593, NCBI Gene:128848, RefSeq DNA:NG_005524, RefSeq DNA:NT_011362 No chr20 29861856 29862762 31274053 31274959 +PA27350 1737 HGNC:2896 ENSG00000150768 dihydrolipoamide S-acetyltransferase DLAT E2 component of pyruvate dehydrogenase complex, dihydrolipoyllysine-residue acetyltransferase DLTA, E2, PDC-E2 Yes No Comparative Toxicogenomics Database:1737, Ensembl:ENSG00000150768, GenAtlas:DLAT, GeneCard:DLAT, HGNC:HGNC:2896, HumanCyc Gene:HS07688, ModBase:P10515, NCBI Gene:1737, OMIM:245348, OMIM:608770, RefSeq DNA:NG_013342, RefSeq DNA:NT_033899, RefSeq Protein:NP_001922, RefSeq RNA:NM_001931, UCSC Genome Browser:NM_001931, UniProtKB:P10515, UniProtKB:Q86YI5 No chr11 111895538 111935002 112024814 112064278 +PA27351 10395 HGNC:2897 ENSG00000164741 DLC1 Rho GTPase activating protein DLC1 StAR-related lipid transfer (START) domain containing 12, deleted in liver cancer 1 ARHGAP7, DLC-1, HP, STARD12, p122-RhoGAP Yes No Comparative Toxicogenomics Database:10395, Ensembl:ENSG00000164741, GenAtlas:DLC1, GeneCard:DLC1, HGNC:HGNC:2897, HumanCyc Gene:HS09127, ModBase:Q96QB1, NCBI Gene:10395, OMIM:604258, RefSeq DNA:NG_015998, RefSeq DNA:NT_167187, RefSeq Protein:NP_001157743, RefSeq Protein:NP_006085, RefSeq Protein:NP_079043, RefSeq Protein:NP_872584, RefSeq RNA:NM_001164271, RefSeq RNA:NM_006094, RefSeq RNA:NM_024767, RefSeq RNA:NM_182643, UCSC Genome Browser:NM_006094, UniProtKB:A8K119, UniProtKB:B4DR10, UniProtKB:Q86UC6, UniProtKB:Q96QB1 No chr8 12940870 13373167 13083361 13604606 +PA27352 1738 HGNC:2898 ENSG00000091140 dihydrolipoamide dehydrogenase DLD E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex DLDH, E3, GCSL, LAD, OGDC-E3 Yes No Comparative Toxicogenomics Database:1738, Ensembl:ENSG00000091140, GenAtlas:DLD, GeneCard:DLD, HGNC:HGNC:2898, HumanCyc Gene:HS01727, ModBase:P09622, NCBI Gene:1738, OMIM:238331, OMIM:248600, OMIM:256000, RefSeq DNA:NG_008045, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_000099, RefSeq RNA:NM_000108, UCSC Genome Browser:NM_000108, UniProtKB:P09622 No chr7 107531586 107561643 107891107 107921198 +PA27353 9940 HGNC:2899 ENSG00000008226 DLEC1 cilia and flagella associated protein DLEC1 """DLEC1, cilia and flagella associated protein"", ""cilia and flagella associated protein 81"", ""deleted in lung and esophageal cancer 1""" CFAP81, DLC1, FAP81 Yes No Comparative Toxicogenomics Database:9940, Ensembl:ENSG00000008226, GenAtlas:DLEC1, GeneCard:DLEC1, HGNC:HGNC:2899, HumanCyc Gene:HS00237, ModBase:Q9Y238, NCBI Gene:9940, OMIM:133239, OMIM:211980, OMIM:604050, RefSeq DNA:NG_023237, RefSeq DNA:NT_022517, RefSeq Protein:NP_031361, RefSeq Protein:NP_031363, RefSeq RNA:NM_007335, RefSeq RNA:NM_007337, UCSC Genome Browser:NM_005106, UniProtKB:Q9Y238 No chr3 38080497 38164228 38038595 38122741 +PA27354 10301 HGNC:13747 ENSG00000176124 deleted in lymphocytic leukemia 1 (non-protein coding) DLEU1 B-cell neoplasia-associated gene with multiple splicing, long intergenic non-protein coding RNA 21, non-protein coding RNA 21 LEU1, LINC00021, NCRNA00021, XTP6 Yes No Ensembl:ENSG00000176124, GenAtlas:DLEU1, GeneCard:DLEU1, HGNC:HGNC:13747, HumanCyc Gene:HS11002, NCBI Gene:10301, OMIM:605765, RefSeq DNA:NT_024524, RefSeq RNA:NR_002605, UCSC Genome Browser:NM_005887 No chr13 50656414 50679433 50082169 50528643 +PA27355 8847 HGNC:13748 ENSG00000231607 deleted in lymphocytic leukemia 2 (non-protein coding) DLEU2 long intergenic non-protein coding RNA 22, mir-15a-16-1 cluster host gene (non-protein coding), non-protein coding RNA 22 LEU2, LINC00022, MIR15AHG, NCRNA00022, TRIM13OS Yes No Comparative Toxicogenomics Database:8847, Ensembl:ENSG00000231607, GenAtlas:DLEU2, GeneCard:DLEU2, HGNC:HGNC:13748, HumanCyc Gene:HS04028, NCBI Gene:8847, OMIM:605766, RefSeq DNA:NT_024524, RefSeq RNA:NR_002612, UCSC Genome Browser:NM_006021 No chr13 50549491 50699680 49982552 50125541 +PA25319 79469 HGNC:13225 ENSG00000116652 deleted in lymphocytic leukemia 2-like DLEU2L Yes No Ensembl:ENSG00000116652, GenAtlas:DLEU2L, GeneCard:DLEU2L, HGNC:HGNC:13225, NCBI Gene:79469, RefSeq DNA:NT_032977, RefSeq RNA:NR_002771 No chr1 64014651 64016307 63548980 63550636 +PA142671974 220107 HGNC:17567 ENSG00000186047 deleted in lymphocytic leukemia 7 DLEU7 deleted in lymphocytic leukemia, 7 FLJ44882 Yes Yes Ensembl:ENSG00000186047, GeneCard:DLEU7, HGNC:HGNC:17567, NCBI Gene:220107, RefSeq DNA:NT_024524, RefSeq Protein:NP_945340, RefSeq RNA:NM_198989, UniProtKB:Q6UYE1 No chr13 51286759 51417885 50711026 50843939 +PA27356 1739 HGNC:2900 ENSG00000075711 discs large MAGUK scaffold protein 1 DLG1 """discs large homolog 1"", ""discs, large homolog 1 (Drosophila)"", ""presynaptic protein SAP97"", ""synapse-associated protein 97""" DLGH1, SAP-97, SAP97, dJ1061C18.1.1, hdlg Yes No Ensembl:ENSG00000075711, GenAtlas:DLG1, GeneCard:DLG1, HGNC:HGNC:2900, HumanCyc Gene:HS01187, ModBase:Q12959, NCBI Gene:1739, OMIM:601014, RefSeq DNA:NT_029928, RefSeq Protein:NP_001091894, RefSeq Protein:NP_001191315, RefSeq Protein:NP_001191316, RefSeq Protein:NP_001191317, RefSeq Protein:NP_004078, RefSeq RNA:NM_001098424, RefSeq RNA:NM_001204386, RefSeq RNA:NM_001204387, RefSeq RNA:NM_001204388, RefSeq RNA:NM_004087, UCSC Genome Browser:NM_004087, UniProtKB:Q12959 No chr3 196769431 197026171 197042560 197299272 +PA164741388 1740 HGNC:2901 ENSG00000150672 discs large MAGUK scaffold protein 2 DLG2 """discs, large homolog 2 (Drosophila)"", ""protein phosphatase 1, regulatory subunit 58""" PPP1R58, PSD-93, PSD93, chapsyn-110 Yes Yes Ensembl:ENSG00000150672, GeneCard:DLG2, HGNC:HGNC:2901, ModBase:Q15700, NCBI Gene:1740, OMIM:603583, RefSeq DNA:NG_021375, RefSeq DNA:NT_167190, RefSeq Protein:NP_001136171, RefSeq Protein:NP_001136172, RefSeq Protein:NP_001136174, RefSeq Protein:NP_001193698, RefSeq Protein:NP_001355, RefSeq RNA:NM_001142699, RefSeq RNA:NM_001142700, RefSeq RNA:NM_001142702, RefSeq RNA:NM_001206769, RefSeq RNA:NM_001364, UniProtKB:Q15700, UniProtKB:Q5H9Q4 No chr11 83166055 85338314 83455009 85628534 +PA165543406 100302690 HGNC:37132 DLG2 antisense RNA 1 DLG2-AS1 PSZA11q14, SZ-1 Yes No GeneCard:DLG2-AS1, HGNC:HGNC:37132, NCBI Gene:100302690 No chr11 +PA164741439 1741 HGNC:2902 ENSG00000082458 discs large MAGUK scaffold protein 3 DLG3 """discs, large homolog 3 (Drosophila)"", ""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"", ""synapse associated protein 102""" KIAA1232, MRX90, NE-Dlg, NEDLG, PPP1R82, SAP-102, SAP102 Yes No Ensembl:ENSG00000082458, GeneCard:DLG3, HGNC:HGNC:2902, HumanCyc Gene:HS01422, ModBase:Q92796, NCBI Gene:1741, OMIM:300189, RefSeq DNA:NG_015849, RefSeq DNA:NT_011669, RefSeq Protein:NP_001159750, RefSeq Protein:NP_065781, RefSeq Protein:NP_066943, RefSeq RNA:NM_001166278, RefSeq RNA:NM_020730, RefSeq RNA:NM_021120, UniProtKB:B4E0H1, UniProtKB:Q59FY1, UniProtKB:Q5JUW6, UniProtKB:Q92796 No chrX 69664705 69725343 70444850 70505490 +PA27359 1742 HGNC:2903 ENSG00000132535 discs large MAGUK scaffold protein 4 DLG4 discs, large homolog 4 (Drosophila) PSD-95, PSD95, SAP-90, SAP90 Yes No Comparative Toxicogenomics Database:1742, Ensembl:ENSG00000132535, GenAtlas:DLG4, GeneCard:DLG4, HGNC:HGNC:2903, HumanCyc Gene:HS05652, NCBI Gene:1742, OMIM:602887, RefSeq DNA:NG_008391, RefSeq DNA:NT_010718, RefSeq Protein:NP_001122299, RefSeq Protein:NP_001356, RefSeq RNA:NM_001128827, RefSeq RNA:NM_001365, UCSC Genome Browser:NM_001365, UniProtKB:P78352 No chr17 7093209 7123369 7189890 7220050 +PA27360 9231 HGNC:2904 ENSG00000151208 discs large MAGUK scaffold protein 5 DLG5 discs, large homolog 5 (Drosophila) KIAA0583, P-dlg Yes Yes Comparative Toxicogenomics Database:9231, Ensembl:ENSG00000151208, GenAtlas:DLG5, GeneCard:DLG5, HGNC:HGNC:2904, HumanCyc Gene:HS07714, ModBase:Q9UE73, NCBI Gene:9231, OMIM:266600, OMIM:604090, RefSeq DNA:NG_011484, RefSeq DNA:NT_030059, RefSeq Protein:NP_004738, RefSeq RNA:NM_004747, UCSC Genome Browser:NM_004747, UniProtKB:Q8TDM6 No chr10 79550549 79686348 77790787 77926590 +PA27361 9229 HGNC:2905 ENSG00000170579 DLG associated protein 1 DLGAP1 discs, large (Drosophila) homolog-associated protein 1 DAP-1, GKAP, SAPAP1 Yes Yes Comparative Toxicogenomics Database:9229, Ensembl:ENSG00000170579, GenAtlas:DLGAP1, GeneCard:DLGAP1, HGNC:HGNC:2905, HumanCyc Gene:HS10151, ModBase:O14490, NCBI Gene:9229, OMIM:605445, RefSeq DNA:NT_010859, RefSeq Protein:NP_001003809, RefSeq Protein:NP_001229690, RefSeq Protein:NP_001229691, RefSeq Protein:NP_001229692, RefSeq Protein:NP_001229693, RefSeq Protein:NP_001229694, RefSeq Protein:NP_001229695, RefSeq Protein:NP_004737, RefSeq RNA:NM_001003809, RefSeq RNA:NM_001242761, RefSeq RNA:NM_001242762, RefSeq RNA:NM_001242763, RefSeq RNA:NM_001242764, RefSeq RNA:NM_001242765, RefSeq RNA:NM_001242766, RefSeq RNA:NM_004746, UCSC Genome Browser:NM_004746, UniProtKB:O14490 No chr18 3496030 4455310 3496032 4455307 +PA27362 9228 HGNC:2906 ENSG00000198010 DLG associated protein 2 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 C8orf68, DAP-2, ERICH1-AS1 Yes No Ensembl:ENSG00000198010, GenAtlas:DLGAP2, GeneCard:DLGAP2, HGNC:HGNC:2906, NCBI Gene:9228, OMIM:605438, RefSeq DNA:NG_009409, RefSeq DNA:NT_023736, RefSeq Protein:NP_004736, RefSeq RNA:NM_004745, UCSC Genome Browser:NM_004745, UniProtKB:Q9P1A6 No chr8 877021 1656642 1501366 1708476 +PA134923893 58512 HGNC:30368 ENSG00000116544 DLG associated protein 3 DLGAP3 discs, large (Drosophila) homolog-associated protein 3 DAP3, SAPAP3 Yes No Ensembl:ENSG00000116544, GeneCard:DLGAP3, HGNC:HGNC:30368, ModBase:O95886, NCBI Gene:58512, OMIM:611413, RefSeq DNA:NT_032977, RefSeq Protein:NP_001073887, RefSeq RNA:NM_001080418, UniProtKB:O95886 No chr1 35331037 35391083 34862120 34929585 +PA134891458 22839 HGNC:24476 ENSG00000080845 DLG associated protein 4 DLGAP4 discs, large (Drosophila) homolog-associated protein 4 DAP4, KIAA0964, SAPAP4 Yes No Comparative Toxicogenomics Database:22839, Ensembl:ENSG00000080845, GeneCard:DLGAP4, HGNC:HGNC:24476, HumanCyc Gene:HS01374, NCBI Gene:22839, RefSeq DNA:NT_011362, RefSeq Protein:NP_001035951, RefSeq Protein:NP_055717, RefSeq Protein:NP_892118, RefSeq RNA:NM_001042486, RefSeq RNA:NM_014902, RefSeq RNA:NM_183006, UniProtKB:Q9Y2H0 No chr20 34995444 35157040 36306323 36528637 +PA162383761 9787 HGNC:16864 ENSG00000126787 DLG associated protein 5 DLGAP5 discs, large (Drosophila) homolog-associated protein 5 DLG1, DLG7, HURP, KIAA0008 Yes No Ensembl:ENSG00000126787, GeneCard:DLGAP5, HGNC:HGNC:16864, HumanCyc Gene:HS05050, NCBI Gene:9787, RefSeq DNA:NT_026437, RefSeq Protein:NP_001139487, RefSeq Protein:NP_055565, RefSeq RNA:NM_001146015, RefSeq RNA:NM_014750, UniProtKB:A8MTM6, UniProtKB:B4DRM8, UniProtKB:Q15398, UniProtKB:Q86T11 No chr14 55614834 55658396 55148116 55191678 +PA27363 8788 HGNC:2907 ENSG00000185559 delta like non-canonical Notch ligand 1 DLK1 delta-like 1 homolog (Drosophila) Delta1, FA1, Pref-1, ZOG, pG2 Yes No Comparative Toxicogenomics Database:8788, Ensembl:ENSG00000185559, GenAtlas:DLK1, GeneCard:DLK1, HGNC:HGNC:2907, ModBase:P80370, NCBI Gene:8788, OMIM:176290, RefSeq DNA:NG_016863, RefSeq DNA:NT_026437, RefSeq Protein:NP_003827, RefSeq RNA:NM_003836, UCSC Genome Browser:NM_003836, UniProtKB:P80370, UniProtKB:Q969Y6 No chr14 101193202 101201467 100726865 100738224 +PA162383762 65989 HGNC:21113 ENSG00000171462 delta like non-canonical Notch ligand 2 DLK2 delta-like 2 homolog (Drosophila) EGFL9, MGC2487 Yes No Ensembl:ENSG00000171462, GeneCard:DLK2, HGNC:HGNC:21113, HumanCyc Gene:HS10311, ModBase:Q6UY11, NCBI Gene:65989, RefSeq DNA:NT_007592, RefSeq Protein:NP_076421, RefSeq Protein:NP_996262, RefSeq RNA:NM_023932, RefSeq RNA:NM_206539, UniProtKB:Q6UY11 No chr6 43418090 43423786 43450352 43456632 +PA27364 28514 HGNC:2908 ENSG00000198719 delta like canonical Notch ligand 1 DLL1 delta-like 1 (Drosophila) Yes No Ensembl:ENSG00000198719, GenAtlas:DLL1, GeneCard:DLL1, HGNC:HGNC:2908, ModBase:O00548, NCBI Gene:28514, OMIM:606582, RefSeq DNA:NT_025741, RefSeq Protein:NP_005609, RefSeq RNA:NM_005618, UCSC Genome Browser:NM_005618, UniProtKB:O00548 No chr6 170591288 170599815 170282200 170291075 +PA27365 10683 HGNC:2909 ENSG00000090932 delta like canonical Notch ligand 3 DLL3 delta-like 3 (Drosophila) SCDO1 Yes No Comparative Toxicogenomics Database:10683, Ensembl:ENSG00000090932, GenAtlas:DLL3, GeneCard:DLL3, HGNC:HGNC:2909, HumanCyc Gene:HS01711, ModBase:Q9NYJ7, NCBI Gene:10683, OMIM:277300, OMIM:602768, RefSeq DNA:NG_008256, RefSeq DNA:NT_011109, RefSeq Protein:NP_058637, RefSeq Protein:NP_982353, RefSeq RNA:NM_016941, RefSeq RNA:NM_203486, UCSC Genome Browser:NM_016941, UniProtKB:Q8NBS4, UniProtKB:Q9NYJ7 No chr19 39989557 39999121 39498917 39508481 +PA27366 54567 HGNC:2910 ENSG00000128917 delta like canonical Notch ligand 4 DLL4 delta-like 4 (Drosophila) Yes No Comparative Toxicogenomics Database:54567, Ensembl:ENSG00000128917, GenAtlas:DLL4, GeneCard:DLL4, HGNC:HGNC:2910, HumanCyc Gene:HS05231, ModBase:Q9NR61, NCBI Gene:54567, OMIM:605185, RefSeq DNA:NT_010194, RefSeq Protein:NP_061947, RefSeq RNA:NM_019074, UCSC Genome Browser:NM_019074, UniProtKB:Q9NR61 No chr15 41221531 41231258 40929333 40939060 +PA27367 1743 HGNC:2911 ENSG00000119689 dihydrolipoamide S-succinyltransferase DLST 2-oxoglutarate dehydrogenase complex component E2, Dihydrolipoyllysine-residue succinyltransferase, dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) DLTS, KGD2, OGDC-E2 Yes No Comparative Toxicogenomics Database:1743, Ensembl:ENSG00000119689, GenAtlas:DLST, GeneCard:DLST, HGNC:HGNC:2911, HumanCyc Gene:HS04324, NCBI Gene:1743, OMIM:126063, RefSeq DNA:NT_026437, RefSeq Protein:NP_001924, RefSeq RNA:NM_001933, RefSeq RNA:NR_033814, UCSC Genome Browser:NM_001933, UniProtKB:P36957 No chr14 75348594 75370450 74881891 74903747 +PA27368 1744 HGNC:2912 ENSG00000181227 dihydrolipoamide S-succinyltransferase pseudogene 1 DLSTP1 Yes No Ensembl:ENSG00000181227, GenAtlas:DLSTP, GeneCard:DLSTP1, HGNC:HGNC:2912, NCBI Gene:1744, RefSeq DNA:NG_002326, RefSeq DNA:NG_007045, RefSeq DNA:NT_032977 No chr1 76207708 76210467 75742002 75745013 +PA27369 1745 HGNC:2914 ENSG00000144355 distal-less homeobox 1 DLX1 Yes No Ensembl:ENSG00000144355, GenAtlas:DLX1, GeneCard:DLX1, HGNC:HGNC:2914, ModBase:P56177, NCBI Gene:1745, OMIM:600029, RefSeq DNA:NG_009218, RefSeq DNA:NT_005403, RefSeq Protein:NP_001033582, RefSeq Protein:NP_835221, RefSeq RNA:NM_001038493, RefSeq RNA:NM_178120, UCSC Genome Browser:NM_178120, UniProtKB:P56177, UniProtKB:Q7Z724 No chr2 172950208 172954402 172085480 172089674 +PA27370 1746 HGNC:2915 ENSG00000115844 distal-less homeobox 2 DLX2 TES-1 Yes No Comparative Toxicogenomics Database:1746, Ensembl:ENSG00000115844, GenAtlas:DLX2, GeneCard:DLX2, HGNC:HGNC:2915, HumanCyc Gene:HS03943, ModBase:Q07687, NCBI Gene:1746, OMIM:126255, RefSeq DNA:NG_009219, RefSeq DNA:NT_005403, RefSeq Protein:NP_004396, RefSeq RNA:NM_004405, UCSC Genome Browser:NM_004405, UniProtKB:Q07687, UniProtKB:Q53QU7 No chr2 172964166 172967478 172099438 172102750 +PA27371 1747 HGNC:2916 ENSG00000064195 distal-less homeobox 3 DLX3 Yes No Comparative Toxicogenomics Database:1747, Ensembl:ENSG00000064195, GenAtlas:DLX3, GeneCard:DLX3, HGNC:HGNC:2916, HumanCyc Gene:HS00793, ModBase:O60479, NCBI Gene:1747, OMIM:104510, OMIM:190320, OMIM:600525, RefSeq DNA:NG_023063, RefSeq DNA:NT_010783, RefSeq Protein:NP_005211, RefSeq RNA:NM_005220, UCSC Genome Browser:NM_005220, UniProtKB:O60479 No chr17 48067369 48072588 49990005 49995224 +PA27372 1748 HGNC:2917 ENSG00000108813 distal-less homeobox 4 DLX4 BP1, DLX7, DLX8, DLX9 Yes No Comparative Toxicogenomics Database:1748, Ensembl:ENSG00000108813, GenAtlas:DLX4, GeneCard:DLX4, HGNC:HGNC:2917, HumanCyc Gene:HS03159, ModBase:Q92988, NCBI Gene:1748, OMIM:601911, RefSeq DNA:NT_010783, RefSeq Protein:NP_001925, RefSeq Protein:NP_612138, RefSeq RNA:NM_001934, RefSeq RNA:NM_138281, UCSC Genome Browser:NM_001934, UniProtKB:Q92988 No chr17 48046562 48052323 49968970 49974959 +PA27373 1749 HGNC:2918 ENSG00000105880 distal-less homeobox 5 DLX5 Yes No Comparative Toxicogenomics Database:1749, Ensembl:ENSG00000105880, GenAtlas:DLX5, GeneCard:DLX5, HGNC:HGNC:2918, HumanCyc Gene:HS02826, ModBase:P56178, NCBI Gene:1749, OMIM:600028, RefSeq DNA:NG_009220, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_005212, RefSeq RNA:NM_005221, UCSC Genome Browser:NM_005221, UniProtKB:P56178, UniProtKB:Q53Y73 No chr7 96649702 96654143 97020390 97024831 +PA27374 1750 HGNC:2919 ENSG00000006377 distal-less homeobox 6 DLX6 Yes No Comparative Toxicogenomics Database:1750, Ensembl:ENSG00000006377, GenAtlas:DLX6, GeneCard:DLX6, HGNC:HGNC:2919, HumanCyc Gene:HS00176, ModBase:P56179, NCBI Gene:1750, OMIM:600030, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_005213, RefSeq RNA:NM_005222, UCSC Genome Browser:NM_005222, UniProtKB:B3KSQ0 No chr7 96635290 96640352 97005978 97011040 +PA165617944 285987 HGNC:37151 ENSG00000231764 DLX6 antisense RNA 1 DLX6-AS1 Evf-2, FLJ34048 Yes No Ensembl:ENSG00000231764, GeneCard:DLX6AS, HGNC:HGNC:37151, NCBI Gene:285987, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_015448 No chr7 96594746 96643377 96968515 97014065 +PA134876562 90871 HGNC:30536 ENSG00000137038 distal membrane arm assembly component 1 DMAC1 chromosome 9 open reading frame 123, distal membrane arm assembly complex 1, transmembrane protein 261 C9orf123, MGC4730, TMEM261 Yes No Ensembl:ENSG00000137038, GeneCard:C9orf123, HGNC:HGNC:30536, NCBI Gene:90871, RefSeq DNA:NT_008413, RefSeq Protein:NP_219500, RefSeq RNA:NM_033428, UniProtKB:Q96GE9 No chr9 7796490 7799806 7796490 7799806 +PA162377263 55101 HGNC:25496 ENSG00000105341 distal membrane arm assembly component 2 DMAC2 ATP5S-like, distal membrane arm assembly complex 2 ATP5SL, FLJ10241 Yes No Ensembl:ENSG00000105341, GeneCard:ATP5SL, HGNC:HGNC:25496, HumanCyc Gene:HS12586, NCBI Gene:55101, RefSeq DNA:NT_011109, RefSeq Protein:NP_001161339, RefSeq Protein:NP_001161340, RefSeq Protein:NP_001161341, RefSeq Protein:NP_001161342, RefSeq Protein:NP_001161343, RefSeq Protein:NP_060505, RefSeq RNA:NM_001167867, RefSeq RNA:NM_001167868, RefSeq RNA:NM_001167869, RefSeq RNA:NM_001167870, RefSeq RNA:NM_001167871, RefSeq RNA:NM_018035, RefSeq RNA:NR_030765, UniProtKB:B4DDC0, UniProtKB:B4DMZ4, UniProtKB:B4DP55, UniProtKB:B4DXE8, UniProtKB:Q9NW81 No chr19 41937223 41945843 41431318 41447822 +PA134991095 27109 HGNC:18799 ENSG00000125375 distal membrane arm assembly component 2 like DMAC2L """ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)"", ""distal membrane arm assembly complex 2 like""" ATP5S, ATPW, HSU79253 Yes No Comparative Toxicogenomics Database:27109, Ensembl:ENSG00000125375, GeneCard:ATP5S, HGNC:HGNC:18799, HumanCyc Gene:HS04877, ModBase:Q99766, NCBI Gene:27109, RefSeq DNA:NT_026437, RefSeq Protein:NP_001003803, RefSeq Protein:NP_001003805, RefSeq Protein:NP_056499, RefSeq RNA:NM_001003803, RefSeq RNA:NM_001003805, RefSeq RNA:NM_001370605, RefSeq RNA:NM_015684 No chr14 50778256 50802359 50311752 50326715 +PA134927315 55929 HGNC:18291 ENSG00000178028 DNA methyltransferase 1 associated protein 1 DMAP1 DNMAP1, DNMTAP1, EAF2, FLJ11543, KIAA1425, MEAF2, SWC4 Yes No Ensembl:ENSG00000178028, GeneCard:DMAP1, HGNC:HGNC:18291, HumanCyc Gene:HS11239, NCBI Gene:55929, OMIM:605077, RefSeq DNA:NT_032977, RefSeq Protein:NP_001029195, RefSeq Protein:NP_001029196, RefSeq Protein:NP_061973, RefSeq RNA:NM_001034023, RefSeq RNA:NM_001034024, RefSeq RNA:NM_019100, UniProtKB:Q9NPF5 No chr1 44679104 44686351 44213428 44220679 +PA27376 1755 HGNC:2926 ENSG00000187908 deleted in malignant brain tumors 1 DMBT1 salivary agglutinin, salivary scavenger and agglutinin GP340, Gp-340, SALSA, hensin, muclin, vomeroglandin Yes No Comparative Toxicogenomics Database:1755, Ensembl:ENSG00000187908, GenAtlas:DMBT1, GeneCard:DMBT1, HGNC:HGNC:2926, ModBase:Q5JR26, NCBI Gene:1755, OMIM:137800, OMIM:155255, OMIM:601969, RefSeq DNA:NG_012644, RefSeq DNA:NT_030059, RefSeq Protein:NP_004397, RefSeq Protein:NP_015568, RefSeq Protein:NP_060049, RefSeq Protein:XP_002344550, RefSeq Protein:XP_002344551, RefSeq RNA:NM_004406, RefSeq RNA:NM_007329, RefSeq RNA:NM_017579, RefSeq RNA:XM_002344509, RefSeq RNA:XM_002344510, UCSC Genome Browser:NM_004406, UniProtKB:Q9UGM3 No chr10 124320181 124403252 122560665 122643736 +PA38780 127343 HGNC:19026 ENSG00000197587 diencephalon/mesencephalon homeobox 1 DMBX1 Atx, MBX, OTX3, PAXB Yes No Ensembl:ENSG00000197587, GenAtlas:DMBX1, GeneCard:DMBX1, HGNC:HGNC:19026, ModBase:Q8NFW5, NCBI Gene:127343, OMIM:607410, RefSeq DNA:NT_032977, RefSeq Protein:NP_671725, RefSeq Protein:NP_757379, RefSeq RNA:NM_147192, RefSeq RNA:NM_172225, UCSC Genome Browser:NM_147192, UniProtKB:Q8NFW5 No chr1 46972668 46979898 46489837 46514226 +PA27377 11144 HGNC:2927 ENSG00000100206 DNA meiotic recombinase 1 DMC1 LIM15 Yes No Comparative Toxicogenomics Database:11144, Ensembl:ENSG00000100206, GenAtlas:DMC1, GeneCard:DMC1, HGNC:HGNC:2927, HumanCyc Gene:HS01999, ModBase:Q14565, NCBI Gene:11144, OMIM:602721, RefSeq DNA:NG_017203, RefSeq DNA:NT_011520, RefSeq Protein:NP_008999, RefSeq RNA:NM_007068, UCSC Genome Browser:NM_007068, UniProtKB:Q14565 No chr22 38914954 38966201 38509154 38570286 +PA27378 1756 HGNC:2928 ENSG00000198947 dystrophin DMD muscular dystrophy, Duchenne and Becker types BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85 Yes No Comparative Toxicogenomics Database:1756, Ensembl:ENSG00000198947, GenAtlas:DMD, GeneCard:DMD, HGNC:HGNC:2928, HumanCyc Gene:HS08230, ModBase:P11532, NCBI Gene:1756, OMIM:300376, OMIM:300377, OMIM:302045, OMIM:310200, RefSeq DNA:NG_012232, RefSeq DNA:NT_167197, RefSeq Protein:NP_000100, RefSeq Protein:NP_003997, RefSeq Protein:NP_003998, RefSeq Protein:NP_004000, RefSeq Protein:NP_004001, RefSeq Protein:NP_004002, RefSeq Protein:NP_004003, RefSeq Protein:NP_004004, RefSeq Protein:NP_004005, RefSeq Protein:NP_004006, RefSeq Protein:NP_004007, RefSeq Protein:NP_004008, RefSeq Protein:NP_004009, RefSeq Protein:NP_004010, RefSeq Protein:NP_004011, RefSeq Protein:NP_004012, RefSeq Protein:NP_004013, RefSeq Protein:NP_004014, RefSeq RNA:NM_000109, RefSeq RNA:NM_004006, RefSeq RNA:NM_004007, RefSeq RNA:NM_004009, RefSeq RNA:NM_004010, RefSeq RNA:NM_004011, RefSeq RNA:NM_004012, RefSeq RNA:NM_004013, RefSeq RNA:NM_004014, RefSeq RNA:NM_004015, RefSeq RNA:NM_004016, RefSeq RNA:NM_004017, RefSeq RNA:NM_004018, RefSeq RNA:NM_004019, RefSeq RNA:NM_004020, RefSeq RNA:NM_004021, RefSeq RNA:NM_004022, RefSeq RNA:NM_004023, UCSC Genome Browser:NM_004023, UniProtKB:A1L0U9, UniProtKB:A7E212, UniProtKB:P11532, UniProtKB:Q4G0X0, UniProtKB:Q6NSJ9, UniProtKB:Q8N754 No chrX 31137345 33357726 31119219 33339609 +PA134947212 29958 HGNC:24475 ENSG00000132837 dimethylglycine dehydrogenase DMGDH ME2GLYDH Yes No Comparative Toxicogenomics Database:29958, Ensembl:ENSG00000132837, GeneCard:DMGDH, HGNC:HGNC:24475, HumanCyc Gene:HS05695, ModBase:Q9UI17, NCBI Gene:29958, OMIM:605849, OMIM:605850, RefSeq DNA:NG_012164, RefSeq DNA:NT_006713, RefSeq Protein:NP_037523, RefSeq RNA:NM_013391, UniProtKB:B3KQ84, UniProtKB:Q9UI17 No chr5 78293387 78365497 78997564 79069674 +PA145149020 93099 HGNC:25063 ENSG00000161249 dermokine DMKN ZD52F10 Yes No Ensembl:ENSG00000161249, GeneCard:DMKN, HGNC:HGNC:25063, HumanCyc Gene:HS14856, NCBI Gene:93099, RefSeq DNA:NT_011109, RefSeq Protein:NP_001030593, RefSeq Protein:NP_001119528, RefSeq Protein:NP_001119529, RefSeq Protein:NP_001119530, RefSeq Protein:NP_001119531, RefSeq Protein:NP_001119533, RefSeq Protein:NP_001177276, RefSeq Protein:NP_001177277, RefSeq Protein:NP_001177278, RefSeq Protein:NP_201574, RefSeq RNA:NM_001035516, RefSeq RNA:NM_001126056, RefSeq RNA:NM_001126057, RefSeq RNA:NM_001126058, RefSeq RNA:NM_001126059, RefSeq RNA:NM_001126061, RefSeq RNA:NM_001190347, RefSeq RNA:NM_001190348, RefSeq RNA:NM_001190349, RefSeq RNA:NM_033317, RefSeq RNA:NR_033746, UniProtKB:A3EZ84, UniProtKB:Q6E0U4 No chr19 35988119 36004560 35497217 35513678 +PA27379 1758 HGNC:2932 ENSG00000152592 dentin matrix acidic phosphoprotein 1 DMP1 Yes No Ensembl:ENSG00000152592, GenAtlas:DMP1, GeneCard:DMP1, HGNC:HGNC:2932, HumanCyc Gene:HS07837, ModBase:Q13316, NCBI Gene:1758, OMIM:241520, OMIM:600980, RefSeq DNA:NG_008988, RefSeq DNA:NT_016354, RefSeq Protein:NP_001073380, RefSeq Protein:NP_004398, RefSeq RNA:NM_001079911, RefSeq RNA:NM_004407, UCSC Genome Browser:NM_004407, UniProtKB:Q13316 No chr4 88571454 88585513 87650302 87664361 +PA27380 1760 HGNC:2933 ENSG00000104936 DM1 protein kinase DMPK DM protein kinase, Myotonin-protein kinase, dystrophia myotonica 1, dystrophia myotonica-protein kinase, myotonic dystrophy associated protein kinase, myotonin protein kinase A, thymopoietin homolog DM, DM1, DM1PK, DMK, MDPK, MT-PK Yes Yes Comparative Toxicogenomics Database:1760, Ensembl:ENSG00000104936, GenAtlas:DMPK, GeneCard:DMPK, HGNC:HGNC:2933, HumanCyc Gene:HS02657, ModBase:Q09013, NCBI Gene:1760, OMIM:160900, OMIM:605377, RefSeq DNA:NG_009784, RefSeq DNA:NT_011109, RefSeq Protein:NP_001075029, RefSeq Protein:NP_001075031, RefSeq Protein:NP_001075032, RefSeq Protein:NP_004400, RefSeq RNA:NM_001081560, RefSeq RNA:NM_001081562, RefSeq RNA:NM_001081563, RefSeq RNA:NM_004409, UCSC Genome Browser:NM_004409, UniProtKB:Q09013 No chr19 46272975 46285815 45769709 45782557 +PA27381 1761 HGNC:2934 ENSG00000137090 doublesex and mab-3 related transcription factor 1 DMRT1 DM domain expressed in testis 1 CT154, DMT1 Yes No Comparative Toxicogenomics Database:1761, Ensembl:ENSG00000137090, GenAtlas:DMRT1, GeneCard:DMRT1, HGNC:HGNC:2934, HumanCyc Gene:HS06268, ModBase:Q9Y5R6, NCBI Gene:1761, OMIM:602424, RefSeq DNA:NG_009221, RefSeq DNA:NT_008413, RefSeq Protein:NP_068770, RefSeq RNA:NM_021951, UCSC Genome Browser:NM_021951, UniProtKB:Q9Y5R6 No chr9 841690 969090 841647 969090 +PA27382 10655 HGNC:2935 ENSG00000173253 doublesex and mab-3 related transcription factor 2 DMRT2 terra-like protein Yes No Ensembl:ENSG00000173253, GenAtlas:DMRT2, GeneCard:DMRT2, HGNC:HGNC:2935, ModBase:Q9Y5R5, NCBI Gene:10655, OMIM:604935, RefSeq DNA:NG_017051, RefSeq DNA:NT_008413, RefSeq Protein:NP_001124337, RefSeq Protein:NP_006548, RefSeq Protein:NP_870987, RefSeq RNA:NM_001130865, RefSeq RNA:NM_006557, RefSeq RNA:NM_181872, UCSC Genome Browser:NM_006557, UniProtKB:B1ANC0, UniProtKB:Q05C20, UniProtKB:Q5HYK2, UniProtKB:Q9Y5R5 No chr9 1049858 1057554 1003237 1057554 +PA27383 58524 HGNC:13909 ENSG00000064218 doublesex and mab-3 related transcription factor 3 DMRT3 testis-specific protein DMRTA3 Yes No Ensembl:ENSG00000064218, GenAtlas:DMRT3, GeneCard:DMRT3, HGNC:HGNC:13909, HumanCyc Gene:HS00797, ModBase:Q9NQL9, NCBI Gene:58524, RefSeq DNA:NT_008413, RefSeq Protein:NP_067063, RefSeq RNA:NM_021240, UCSC Genome Browser:NM_021240, UniProtKB:Q9NQL9 No chr9 976968 991732 976968 991732 +PA27384 63951 HGNC:13826 ENSG00000176399 DMRT like family A1 DMRTA1 DMRT-like family A1 Yes No Ensembl:ENSG00000176399, GenAtlas:DMRTA1, GeneCard:DMRTA1, HGNC:HGNC:13826, HumanCyc Gene:HS11048, ModBase:Q5VZB9, NCBI Gene:63951, RefSeq DNA:NT_008413, RefSeq Protein:NP_071443, RefSeq RNA:NM_022160, UniProtKB:Q5VZB9 No chr9 22446840 22452472 22446841 22452473 +PA27385 63950 HGNC:13908 ENSG00000142700 DMRT like family A2 DMRTA2 DMRT-like family A2 Yes No Comparative Toxicogenomics Database:63950, Ensembl:ENSG00000142700, GenAtlas:DMRTA2, GeneCard:DMRTA2, HGNC:HGNC:13908, HumanCyc Gene:HS06955, ModBase:Q96SC8, NCBI Gene:63950, RefSeq DNA:NT_032977, RefSeq Protein:NP_115486, RefSeq RNA:NM_032110, UniProtKB:Q96SC8 No chr1 50883223 50889119 50417550 50423447 +PA27386 63948 HGNC:13913 ENSG00000143006 DMRT like family B with proline rich C-terminal 1 DMRTB1 DMRT-like family B with proline-rich C-terminal, 1 Yes No Comparative Toxicogenomics Database:63948, Ensembl:ENSG00000143006, GenAtlas:DMRTB1, GeneCard:DMRTB1, HGNC:HGNC:13913, HumanCyc Gene:HS06978, ModBase:Q96MA1, NCBI Gene:63948, RefSeq DNA:NT_032977, RefSeq Protein:NP_149056, RefSeq RNA:NM_033067, UCSC Genome Browser:NM_033067, UniProtKB:Q96MA1 No chr1 53925072 53933158 53459399 53467488 +PA27387 63947 HGNC:13910 ENSG00000159123, ENSG00000184911 DMRT like family C1 DMRTC1 DMRT-like family C1 Yes No Ensembl:ENSG00000159123, Ensembl:ENSG00000184911, GenAtlas:DMRTC1, GeneCard:DMRTC1, HGNC:HGNC:13910, HumanCyc Gene:HS14743, ModBase:Q5HYR2, NCBI Gene:63947, RefSeq DNA:NT_011669, RefSeq Protein:NP_149042, RefSeq RNA:NM_033053, UCSC Genome Browser:NM_033053 No chrX 72091859 72163625 72872025 72943653 +PA162383779 728656 HGNC:31686 ENSG00000184911 DMRT like family C1B DMRTC1B DMRT-like family C1B Yes No Ensembl:ENSG00000184911, GeneCard:DMRTC1B, HGNC:HGNC:31686, NCBI Gene:728656, RefSeq DNA:NT_011669, RefSeq Protein:NP_001074320, RefSeq RNA:NM_001080851, UniProtKB:Q5HYR2 No chrX 72064876 72068636 72777170 72848802 +PA27388 63946 HGNC:13911 ENSG00000142025 DMRT like family C2 DMRTC2 DMRT-like family C2 Yes No Ensembl:ENSG00000142025, GenAtlas:DMRTC2, GeneCard:DMRTC2, HGNC:HGNC:13911, HumanCyc Gene:HS06889, ModBase:Q8IXT2, NCBI Gene:63946, RefSeq DNA:NT_011109, RefSeq Protein:NP_001035373, RefSeq RNA:NM_001040283, UCSC Genome Browser:NM_033052, UniProtKB:Q8IXT2 No chr19 42348806 42356398 41844743 41852330 +PA27389 9988 HGNC:14603 ENSG00000135164 cyclin D binding myb like transcription factor 1 DMTF1 cyclin D binding myb-like transcription factor 1, cyclin D-binding Myb-like protein DMP1, DMTF, MRUL, hDMP1 Yes No Ensembl:ENSG00000135164, GenAtlas:DMTF1, GeneCard:DMTF1, HGNC:HGNC:14603, HumanCyc Gene:HS05962, ModBase:Q9Y222, NCBI Gene:9988, OMIM:608491, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001135798, RefSeq Protein:NP_001135799, RefSeq Protein:NP_066968, RefSeq RNA:NM_001142326, RefSeq RNA:NM_001142327, RefSeq RNA:NM_021145, RefSeq RNA:NR_024549, RefSeq RNA:NR_024550, UCSC Genome Browser:NM_021145, UniProtKB:B3KMJ8, UniProtKB:B4DJS5, UniProtKB:Q9Y222 No chr7 86781677 86825648 87152361 87196332 +PA27815 2039 HGNC:3382 ENSG00000158856 dematin actin binding protein DMTN erythrocyte membrane protein band 4.9 (dematin) DMT, EPB49 Yes No Ensembl:ENSG00000158856, GenAtlas:EPB49, GeneCard:EPB49, HGNC:HGNC:3382, HumanCyc Gene:HS08337, ModBase:Q08495, NCBI Gene:2039, OMIM:125305, RefSeq DNA:NT_167187, RefSeq Protein:NP_001107607, RefSeq Protein:NP_001107608, RefSeq Protein:NP_001107609, RefSeq Protein:NP_001107610, RefSeq Protein:NP_001107611, RefSeq Protein:NP_001969, RefSeq RNA:NM_001114135, RefSeq RNA:NM_001114136, RefSeq RNA:NM_001114137, RefSeq RNA:NM_001114138, RefSeq RNA:NM_001114139, RefSeq RNA:NM_001978, UCSC Genome Browser:NM_001978, UniProtKB:B3KRH3, UniProtKB:Q08495 No chr8 21906660 21940036 22048955 22082527 +PA27390 1762 HGNC:2936 ENSG00000185800 DM1 locus, WD repeat containing DMWD dystrophia myotonica, WD repeat containing D19S593E, DMR-N9, gene59 Yes No Comparative Toxicogenomics Database:1762, Ensembl:ENSG00000185800, GenAtlas:DMWD, GeneCard:DMWD, HGNC:HGNC:2936, ModBase:Q09019, NCBI Gene:1762, OMIM:609857, RefSeq DNA:NT_011109, RefSeq Protein:NP_004934, RefSeq RNA:NM_004943, UniProtKB:Q09019, UniProtKB:Q8WUW6 No chr19 46286205 46296060 45783006 45792802 +PA27391 1657 HGNC:2937 ENSG00000172869 Dmx like 1 DMXL1 Dmx-like 1 Yes No Comparative Toxicogenomics Database:1657, Ensembl:ENSG00000172869, GenAtlas:DMXL1, GeneCard:DMXL1, HGNC:HGNC:2937, HumanCyc Gene:HS10584, NCBI Gene:1657, OMIM:605671, RefSeq DNA:NT_034772, RefSeq Protein:NP_005500, RefSeq RNA:NM_005509, UCSC Genome Browser:NM_005509, UniProtKB:Q9Y485 No chr5 118406839 118584822 119071002 119250170 +PA27392 23312 HGNC:2938 ENSG00000104093 Dmx like 2 DMXL2 Dmx-like 2, rabconnectin 3 DFNA71, KIAA0856, RC3 Yes No Comparative Toxicogenomics Database:23312, Ensembl:ENSG00000104093, GenAtlas:DMXL2, GeneCard:DMXL2, HGNC:HGNC:2938, HumanCyc Gene:HS12542, ModBase:Q8TDJ6, NCBI Gene:23312, OMIM:612186, RefSeq DNA:NG_017155, RefSeq DNA:NT_010194, RefSeq Protein:NP_001167587, RefSeq Protein:NP_001167588, RefSeq Protein:NP_056078, RefSeq RNA:NM_001174116, RefSeq RNA:NM_001174117, RefSeq RNA:NM_015263, UniProtKB:B2RTR3, UniProtKB:B7ZMH3, UniProtKB:Q8TDJ6 No chr15 51739921 51915030 51447724 51622833 +PA162383798 1763 HGNC:2939 ENSG00000138346 DNA replication helicase/nuclease 2 DNA2 DNA replication helicase 2 homolog (yeast) DNA2L, KIAA0083 Yes No Ensembl:ENSG00000138346, GeneCard:DNA2, HGNC:HGNC:2939, HumanCyc Gene:HS06488, NCBI Gene:1763, OMIM:601810, RefSeq DNA:NT_030059, RefSeq Protein:NP_001073918, RefSeq RNA:NM_001080449 No chr10 70173821 70231878 68414064 68472521 +PA142671510 123872 HGNC:30539 ENSG00000154099 dynein axonemal assembly factor 1 DNAAF1 """dynein, axonemal, assembly factor 1"", ""outer row dynein assembly 7 homolog (Chlamydomonas)""" CILD13, DAU1, FLJ25330, LRRC50, ODA7, swt Yes No Comparative Toxicogenomics Database:123872, Ensembl:ENSG00000154099, GeneCard:LRRC50, HGNC:HGNC:30539, ModBase:Q8NEP3, NCBI Gene:123872, OMIM:613190, OMIM:613193, RefSeq DNA:NG_021174, RefSeq DNA:NT_010498, RefSeq Protein:NP_848547, RefSeq RNA:NM_178452, UniProtKB:Q8NEP3 No chr16 84178865 84211524 84145260 84178761 +PA166352469 116143 HGNC:25176 dynein axonemal assembly factor 10 DNAAF10 WDR92 FLJ31741, Monad Yes No HGNC:HGNC:25176, NCBI Gene:116143 No 0 0 0 0 +PA166352470 23639 HGNC:16725 dynein axonemal assembly factor 11 DNAAF11 LRRC6, leucine rich testes protein, seahorse CILD19, LRTP, TSLRP, tilB Yes No HGNC:HGNC:16725, NCBI Gene:23639 No 0 0 0 0 +PA134910310 55172 HGNC:20188 ENSG00000165506 dynein axonemal assembly factor 2 DNAAF2 """dynein, axonemal, assembly factor 2"", ""kintoun""" C14orf104, CILD10, FLJ10563, KTU, PF13 Yes No Comparative Toxicogenomics Database:55172, Ensembl:ENSG00000165506, GeneCard:C14orf104, HGNC:HGNC:20188, HumanCyc Gene:HS15332, ModBase:Q9NVR5, NCBI Gene:55172, OMIM:612517, OMIM:612518, RefSeq DNA:NG_013070, RefSeq DNA:NT_026437, RefSeq Protein:NP_001077377, RefSeq Protein:NP_060609, RefSeq RNA:NM_001083908, RefSeq RNA:NM_018139, UniProtKB:C0JAP7, UniProtKB:Q9NVR5 No chr14 50091892 50101948 49625174 49635230 +PA147358371 352909 HGNC:30492 ENSG00000167646 dynein axonemal assembly factor 3 DNAAF3 dynein, axonemal, assembly factor 3 C19orf51, CILD2, FLJ36139, FLJ40069, PCD, PF22 Yes No Ensembl:ENSG00000167646, GeneCard:C19orf51, HGNC:HGNC:30492, NCBI Gene:352909, RefSeq DNA:NT_011109, RefSeq Protein:NP_849159, RefSeq RNA:NM_178837, UniProtKB:Q8N9W5 No chr19 55670029 55678090 55158661 55166722 +PA134870600 161582 HGNC:21493 ENSG00000256061 dynein axonemal assembly factor 4 DNAAF4 """dynein, axonemal, assembly factor 4"", ""dyslexia susceptibility 1 candidate 1""" CILD25, DYX1C1, EKN1, FLJ37882, pf23 Yes No Comparative Toxicogenomics Database:161582, Ensembl:ENSG00000256061, GeneCard:DYX1C1, HGNC:HGNC:21493, ModBase:Q8WXU2, NCBI Gene:161582, OMIM:127700, OMIM:608706, RefSeq DNA:NG_021213, RefSeq DNA:NT_010194, RefSeq Protein:NP_001028731, RefSeq Protein:NP_001028732, RefSeq Protein:NP_570722, RefSeq RNA:NM_001033559, RefSeq RNA:NM_001033560, RefSeq RNA:NM_130810, UniProtKB:Q8N1S6, UniProtKB:Q8WXU2 No chr15 55709953 55800432 55417755 55508234 +PA145008229 54919 HGNC:26013 ENSG00000164818 dynein axonemal assembly factor 5 DNAAF5 HEAT repeat containing 2 CILD18, FLJ20397, FLJ25564, FLJ31671, FLJ39381, HEATR2 Yes No Ensembl:ENSG00000164818, GeneCard:HEATR2, HGNC:HGNC:26013, HumanCyc Gene:HS15244, ModBase:Q86Y56, NCBI Gene:54919, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_060272, RefSeq RNA:NM_017802, UniProtKB:B3KPE2, UniProtKB:Q86Y56 No chr7 766338 826116 726701 786479 +PA166352467 139212 HGNC:28570 dynein axonemal assembly factor 6 DNAAF6 CXorf41, PIH1D3, sarcoma antigen NY-SAR-97 MGC35261, NYSAR97, TWISTER Yes No HGNC:HGNC:28570, NCBI Gene:139212 No 0 0 0 0 +PA166352468 146562 HGNC:25081 dynein axonemal assembly factor 8 DNAAF8 C16orf71 DKFZp686H2240, Daap1, FLJ43261 Yes No HGNC:HGNC:25081, NCBI Gene:146562 No 0 0 0 0 +PA134905007 25943 HGNC:17721 dynein axonemal assembly factor 9 DNAAF9 chromosome 20 open reading frame 194, shulin C20orf194, DKFZp434N061 Yes Yes Comparative Toxicogenomics Database:25943, GeneCard:C20orf194, HGNC:HGNC:17721, HumanCyc Gene:HS12314, ModBase:Q5TEA3, NCBI Gene:25943, RefSeq DNA:NT_011387, RefSeq Protein:NP_001009984, RefSeq RNA:NM_001009984, UniProtKB:Q0IIP3, UniProtKB:Q5TEA3 No chr20 3229948 3388587 3249302 3407662 +PA27394 25981 HGNC:2940 ENSG00000114841 dynein axonemal heavy chain 1 DNAH1 dynein, axonemal, heavy chain 1 DNAHC1, HDHC7, HL-11, HL11, XLHSRF-1 Yes No Comparative Toxicogenomics Database:25981, Ensembl:ENSG00000114841, GenAtlas:DNAH1, GeneCard:DNAH1, HGNC:HGNC:2940, HumanCyc Gene:HS03805, ModBase:Q92863, NCBI Gene:25981, OMIM:603332, RefSeq DNA:NT_022517, RefSeq Protein:NP_056327, RefSeq RNA:NM_015512, UniProtKB:Q9P2D7 No chr3 52350335 52434513 52313010 52400497 +PA27395 196385 HGNC:2941 ENSG00000197653 dynein axonemal heavy chain 10 DNAH10 dynein, axonemal, heavy chain 10 FLJ43808 Yes No Ensembl:ENSG00000197653, GenAtlas:DNAH10, GeneCard:DNAH10, HGNC:HGNC:2941, NCBI Gene:196385, OMIM:605884, RefSeq DNA:NT_009755, RefSeq Protein:NP_997320, RefSeq RNA:NM_207437, UniProtKB:B0I1S1, UniProtKB:Q8IVF4 No chr12 124246786 124420267 123761995 123935720 +PA165512563 642797 HGNC:37121 ENSG00000250091 dynein axonemal heavy chain 10 opposite strand DNAH10OS dynein, axonemal, heavy chain 10 opposite strand FLJ45278 Yes No Ensembl:ENSG00000250091, HGNC:HGNC:37121, NCBI Gene:642797 No chr12 +PA27396 8701 HGNC:2942 ENSG00000105877 dynein axonemal heavy chain 11 DNAH11 """dynein, axonemal, heavy chain 11"", ""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like""" CILD7, DNAHBL, DNAHC11, DNHBL, DPL11, Dnahc11 Yes No Comparative Toxicogenomics Database:8701, Ensembl:ENSG00000105877, GenAtlas:DNAH11, GeneCard:DNAH11, HGNC:HGNC:2942, NCBI Gene:8701, OMIM:603339, OMIM:611884, RefSeq DNA:NG_012886, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_003768, RefSeq RNA:NM_003777, UCSC Genome Browser:NM_003777, UniProtKB:Q96DT5, UniProtKB:Q96NT7 No chr7 21582833 21941451 21543215 21901568 +PA27397 201625 HGNC:2943 ENSG00000174844 dynein axonemal heavy chain 12 DNAH12 dynein, axonemal, heavy chain 12 DHC3, DLP12, DNAH12L, DNAH7L, DNHD2, Dnahc3, FLJ40427, FLJ44290, HL-19, hdhc3 Yes Yes Ensembl:ENSG00000174844, GenAtlas:DNAH12, GeneCard:DNAH12, HGNC:HGNC:2943, NCBI Gene:201625, OMIM:603340, RefSeq DNA:NT_022517, RefSeq Protein:NP_848599, RefSeq Protein:NP_940966, RefSeq RNA:NM_178504, RefSeq RNA:NM_198564, UniProtKB:Q6ZR08 No chr3 57327727 57530071 57293699 57545203 +PA27399 127602 HGNC:2945 ENSG00000185842 dynein axonemal heavy chain 14 DNAH14 dynein, axonemal, heavy chain 14 C1orf67, DKFZp781B1548, Dnahc14, HL-18, HL18, MGC27277 Yes No Ensembl:ENSG00000185842, GenAtlas:DNAH14, GeneCard:DNAH14, HGNC:HGNC:2945, NCBI Gene:127602, OMIM:603341, RefSeq DNA:NT_167186, RefSeq Protein:NP_001138626, RefSeq Protein:NP_001364, RefSeq Protein:NP_659426, RefSeq RNA:NM_001145154, RefSeq RNA:NM_001373, RefSeq RNA:NM_144989, UniProtKB:Q0VDD8 No chr1 225117356 225586996 224928422 225399294 +PA27400 8632 HGNC:2946 ENSG00000187775 dynein axonemal heavy chain 17 DNAH17 dynein, axonemal, heavy chain 17 DNAHL1, DNEL2, FLJ40457 Yes No Ensembl:ENSG00000187775, GenAtlas:DNAH17, GeneCard:DNAH17, HGNC:HGNC:2946, ModBase:Q9UFH2, NCBI Gene:8632, OMIM:610063, RefSeq DNA:NT_010783, RefSeq Protein:NP_775899, RefSeq Protein:XP_002343587, RefSeq Protein:XP_002345123, RefSeq Protein:XP_002347854, RefSeq RNA:NM_173628, RefSeq RNA:XM_002343546, RefSeq RNA:XM_002345082, RefSeq RNA:XM_002347813 No chr17 76419778 76573476 78423697 78577430 +PA27401 146754 HGNC:2948 ENSG00000183914 dynein axonemal heavy chain 2 DNAH2 dynein, axonemal, heavy chain 2 DNHD3, FLJ46675, KIAA1503 Yes No Ensembl:ENSG00000183914, GenAtlas:DNAH2, GeneCard:DNAH2, HGNC:HGNC:2948, ModBase:Q9P225, NCBI Gene:146754, OMIM:603333, RefSeq DNA:NT_010718, RefSeq Protein:NP_065928, RefSeq RNA:NM_020877, UniProtKB:Q9P225 No chr17 7620631 7737058 7717354 7833744 +PA27402 55567 HGNC:2949 ENSG00000158486 dynein axonemal heavy chain 3 DNAH3 dynein, axonemal, heavy chain 3 DKFZp434N074, DLP3, Dnahc3b, Hsadhc3 Yes No Ensembl:ENSG00000158486, GenAtlas:DNAH3, GeneCard:DNAH3, HGNC:HGNC:2949, HumanCyc Gene:HS08300, ModBase:Q9UG35, NCBI Gene:55567, OMIM:603334, RefSeq DNA:NT_010393, RefSeq Protein:NP_060009, RefSeq RNA:NM_017539, UCSC Genome Browser:NM_017539, UniProtKB:Q8TD57 No chr16 20944476 21170762 20933111 21159537 +PA27403 1767 HGNC:2950 ENSG00000039139 dynein axonemal heavy chain 5 DNAH5 """dynein heavy chain 5"", ""dynein, axonemal, heavy chain 5""" CILD3, Dnahc5, HL1, KTGNR, PCD Yes No Comparative Toxicogenomics Database:1767, Ensembl:ENSG00000039139, GenAtlas:DNAH5, GeneCard:DNAH5, HGNC:HGNC:2950, HumanCyc Gene:HS00540, ModBase:Q8TE73, NCBI Gene:1767, OMIM:603335, OMIM:608644, RefSeq DNA:NG_013081, RefSeq DNA:NT_006576, RefSeq Protein:NP_001360, RefSeq RNA:NM_001369, UCSC Genome Browser:NM_001369, UniProtKB:Q8TE73 No chr5 13690437 14011841 13690328 14011829 +PA27404 1768 HGNC:2951 ENSG00000115423 dynein axonemal heavy chain 6 DNAH6 dynein, axonemal, heavy chain 6 DNHL1, Dnahc6, FLJ37357, HL-2 Yes No Ensembl:ENSG00000115423, GenAtlas:DNAH6, GeneCard:DNAH6, HGNC:HGNC:2951, NCBI Gene:1768, OMIM:603336, RefSeq DNA:NT_022184, RefSeq Protein:NP_001361, RefSeq RNA:NM_001370, UniProtKB:Q9C0G6 No chr2 84743579 85046713 84459588 84819589 +PA38625 56171 HGNC:18661 ENSG00000118997 dynein axonemal heavy chain 7 DNAH7 dynein, axonemal, heavy chain 7 KIAA0944 Yes No Comparative Toxicogenomics Database:56171, Ensembl:ENSG00000118997, GenAtlas:DNAH7, GeneCard:DNAH7, HGNC:HGNC:18661, HumanCyc Gene:HS04269, ModBase:Q8N1Z2, NCBI Gene:56171, OMIM:610061, RefSeq DNA:NT_005403, RefSeq Protein:NP_061720, RefSeq RNA:NM_018897, UCSC Genome Browser:NM_018897, UniProtKB:Q8WXX0 No chr2 196602427 196933536 195737604 196075188 +PA27405 1769 HGNC:2952 ENSG00000124721 dynein axonemal heavy chain 8 DNAH8 dynein, axonemal, heavy chain 8 hdhc9 Yes No Ensembl:ENSG00000124721, GenAtlas:DNAH8, GeneCard:DNAH8, HGNC:HGNC:2952, HumanCyc Gene:HS04820, ModBase:Q96JB1, NCBI Gene:1769, OMIM:603337, RefSeq DNA:NT_007592, RefSeq Protein:NP_001193856, RefSeq Protein:NP_001362, RefSeq RNA:NM_001206927, RefSeq RNA:NM_001371, UCSC Genome Browser:NM_001371, UniProtKB:Q8IU65, UniProtKB:Q96JB1 No chr6 38683117 38998574 38715329 39030798 +PA27406 1770 HGNC:2953 ENSG00000007174 dynein axonemal heavy chain 9 DNAH9 dynein, axonemal, heavy chain 9 DNAH17L, DNAL1, DYH9, Dnahc9, HL-20, HL20, KIAA0357 Yes No Ensembl:ENSG00000007174, GenAtlas:DNAH9, GeneCard:DNAH9, HGNC:HGNC:2953, HumanCyc Gene:HS00206, NCBI Gene:1770, OMIM:603330, RefSeq DNA:NT_010718, RefSeq Protein:NP_001363, RefSeq Protein:NP_004653, RefSeq RNA:NM_001372, RefSeq RNA:NM_004662, UCSC Genome Browser:NM_001372, UniProtKB:A2VCQ8, UniProtKB:Q99499, UniProtKB:Q9NYC9 No chr17 11501748 11873065 11598431 11970168 +PA27407 27019 HGNC:2954 ENSG00000122735 dynein axonemal intermediate chain 1 DNAI1 dynein, axonemal, intermediate chain 1 CILD1, DIC1, ICS1, PCD, oda6 Yes No Comparative Toxicogenomics Database:27019, Ensembl:ENSG00000122735, GenAtlas:DNAI1, GeneCard:DNAI1, HGNC:HGNC:2954, HumanCyc Gene:HS04598, ModBase:Q9UI46, NCBI Gene:27019, OMIM:244400, OMIM:604366, RefSeq DNA:NG_008127, RefSeq DNA:NT_008413, RefSeq Protein:NP_036276, RefSeq RNA:NM_012144, UCSC Genome Browser:NM_012144, UniProtKB:Q9UI46 No chr9 34458750 34520987 34458752 34520989 +PA38669 64446 HGNC:18744 ENSG00000171595 dynein axonemal intermediate chain 2 DNAI2 """dynein intermediate chain 2"", ""dynein, axonemal, intermediate chain 2""" CILD9, DIC2, oda6 Yes No Ensembl:ENSG00000171595, GenAtlas:DNAI2, GeneCard:DNAI2, HGNC:HGNC:18744, HumanCyc Gene:HS10348, ModBase:Q9GZS0, NCBI Gene:64446, OMIM:605483, OMIM:612444, RefSeq DNA:NG_016865, RefSeq DNA:NT_010783, RefSeq Protein:NP_001166281, RefSeq Protein:NP_075462, RefSeq RNA:NM_001172810, RefSeq RNA:NM_023036, UCSC Genome Browser:NM_023036, UniProtKB:C9J0S6, UniProtKB:Q9GZS0 No chr17 72270386 72311023 74274215 74314884 +PA166352471 126820 HGNC:30711 dynein axonemal intermediate chain 3 DNAI3 WDR63 DIC3, FLJ30067, NYD-SP29 Yes No HGNC:HGNC:30711, NCBI Gene:126820 No 0 0 0 0 +PA166352472 79819 HGNC:26252 dynein axonemal intermediate chain 4 DNAI4 WDR78 DIC4, FLJ23129 Yes No HGNC:HGNC:26252, NCBI Gene:79819 No 0 0 0 0 +PA166352473 55259 HGNC:29599 dynein axonemal intermediate chain 7 DNAI7 """CASC1"", ""CFAP94"", ""protein phosphatase 1, regulatory subunit 54""" FLJ10921, LAS1, PPP1R54 Yes No HGNC:HGNC:29599, NCBI Gene:55259 No 0 0 0 0 +PA31536 3301 HGNC:5229 ENSG00000086061 DnaJ heat shock protein family (Hsp40) member A1 DNAJA1 """DnaJ (Hsp40) homolog, subfamily A, member 1"", ""neural precursor cell expressed, developmentally down-regulated 7""" HSJ2, HSPF4, NEDD7, dj-2, hdj-2 Yes No Comparative Toxicogenomics Database:3301, Ensembl:ENSG00000086061, GenAtlas:DNAJA1, GenAtlas:NEDD7, GeneCard:DNAJA1, GeneCard:NEDD7, HGNC:HGNC:5229, HumanCyc Gene:HS01518, ModBase:P31689, NCBI Gene:3301, OMIM:602837, RefSeq DNA:NT_008413, RefSeq Protein:NP_001530, RefSeq RNA:NM_001539, UCSC Genome Browser:NM_001539, UniProtKB:P31689, UniProtKB:Q5T7Q0 No chr9 33025209 33039905 33025203 33039907 +PA27409 10294 HGNC:14884 ENSG00000069345 DnaJ heat shock protein family (Hsp40) member A2 DNAJA2 DnaJ (Hsp40) homolog, subfamily A, member 2 CPR3, DNAJ, DNJ3, HIRIP4 Yes No Ensembl:ENSG00000069345, GenAtlas:DNAJA2, GeneCard:DNAJA2, HGNC:HGNC:14884, HumanCyc Gene:HS00960, ModBase:O60884, NCBI Gene:10294, OMIM:611322, RefSeq DNA:NT_010498, RefSeq Protein:NP_005871, RefSeq RNA:NM_005880, UCSC Genome Browser:NM_005880, UniProtKB:O60884 No chr16 46989274 47007625 46955362 46973714 +PA27410 9093 HGNC:11808 ENSG00000103423 DnaJ heat shock protein family (Hsp40) member A3 DNAJA3 """DnaJ (Hsp40) homolog, subfamily A, member 3"", ""DnaJ homolog subfamily A member 3, mitochondrial""" TID1, Tid1-L, Tid1-S, hTid-1 Yes No Comparative Toxicogenomics Database:9093, Ensembl:ENSG00000103423, GenAtlas:DNAJA3, GeneCard:DNAJA3, HGNC:HGNC:11808, HumanCyc Gene:HS02502, ModBase:Q96EY1, NCBI Gene:9093, OMIM:608382, RefSeq DNA:NT_010393, RefSeq Protein:NP_001128582, RefSeq Protein:NP_005138, RefSeq RNA:NM_001135110, RefSeq RNA:NM_005147, UCSC Genome Browser:NM_005147, UniProtKB:B3KM81, UniProtKB:Q53G26, UniProtKB:Q96EY1 No chr16 4475806 4506776 4425805 4456775 +PA27411 55466 HGNC:14885 ENSG00000140403 DnaJ heat shock protein family (Hsp40) member A4 DNAJA4 DnaJ (Hsp40) homolog, subfamily A, member 4 PRO1472 Yes No Comparative Toxicogenomics Database:55466, Ensembl:ENSG00000140403, GenAtlas:DNAJA4, GeneCard:DNAJA4, HGNC:HGNC:14885, HumanCyc Gene:HS06713, ModBase:Q8WW22, NCBI Gene:55466, RefSeq DNA:NT_010194, RefSeq Protein:NP_001123654, RefSeq Protein:NP_001123655, RefSeq Protein:NP_061072, RefSeq RNA:NM_001130182, RefSeq RNA:NM_001130183, RefSeq RNA:NM_018602, UCSC Genome Browser:NM_018602, UniProtKB:Q69YX3, UniProtKB:Q8N5Z4, UniProtKB:Q8WW22 No chr15 78556487 78574538 78264145 78282196 +PA27412 3337 HGNC:5270 ENSG00000132002 DnaJ heat shock protein family (Hsp40) member B1 DNAJB1 """DnaJ (Hsp40) homolog, subfamily B, member 1"", ""radial spoke 16 homolog B (Chlamydomonas)""" HSPF1, Hsp40, RSPH16B, Sis1 Yes No Comparative Toxicogenomics Database:3337, Ensembl:ENSG00000132002, GenAtlas:DNAJB1, GeneCard:DNAJB1, HGNC:HGNC:5270, HumanCyc Gene:HS05590, ModBase:P25685, NCBI Gene:3337, OMIM:604572, RefSeq DNA:NT_011295, RefSeq Protein:NP_006136, RefSeq RNA:NM_006145, UCSC Genome Browser:NM_006145, UniProtKB:P25685, UniProtKB:Q6FHS4 No chr19 14625581 14640087 14514764 14529821 +PA27413 51726 HGNC:14889 ENSG00000090520 DnaJ heat shock protein family (Hsp40) member B11 DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11 EDJ, ERdj3, HEDJ Yes No Comparative Toxicogenomics Database:51726, Ensembl:ENSG00000090520, GenAtlas:DNAJB11, GeneCard:DNAJB11, HGNC:HGNC:14889, HumanCyc Gene:HS01692, ModBase:Q9UBS4, NCBI Gene:51726, OMIM:611341, RefSeq DNA:NT_005612, RefSeq Protein:NP_057390, RefSeq RNA:NM_016306, UCSC Genome Browser:NM_016306, UniProtKB:Q9UBS4 No chr3 186288467 186303589 186570676 186585800 +PA27414 54788 HGNC:14891 ENSG00000148719 DnaJ heat shock protein family (Hsp40) member B12 DNAJB12 DnaJ (Hsp40) homolog, subfamily B, member 12 DJ10, FLJ20027 Yes No Comparative Toxicogenomics Database:54788, Ensembl:ENSG00000148719, GenAtlas:DNAJB12, GeneCard:DNAJB12, HGNC:HGNC:14891, HumanCyc Gene:HS07554, ModBase:Q9NXW2, NCBI Gene:54788, OMIM:608376, RefSeq DNA:NT_030059, RefSeq Protein:NP_001002762, RefSeq Protein:NP_060096, RefSeq RNA:NM_001002762, RefSeq RNA:NM_017626, UCSC Genome Browser:NM_017626, UniProtKB:Q9NXW2 No chr10 74092588 74114907 72332830 72355149 +PA142671972 374407 HGNC:30718 ENSG00000187726 DnaJ heat shock protein family (Hsp40) member B13 DNAJB13 """DnaJ (Hsp40) homolog, subfamily B, member 13"", ""radial spoke 16 homolog A (Chlamydomonas)""" RSPH16A, TSARG6 Yes Yes Comparative Toxicogenomics Database:374407, Ensembl:ENSG00000187726, GeneCard:DNAJB13, HGNC:HGNC:30718, ModBase:P59910, NCBI Gene:374407, OMIM:610263, RefSeq DNA:NT_167190, RefSeq Protein:NP_705842, RefSeq RNA:NM_153614, UniProtKB:B3LEP4, UniProtKB:P59910 No chr11 73661364 73681713 73950319 73970287 +PA142671973 79982 HGNC:25881 ENSG00000164031 DnaJ heat shock protein family (Hsp40) member B14 DNAJB14 DnaJ (Hsp40) homolog, subfamily B, member 14 FLJ14281 Yes No Comparative Toxicogenomics Database:79982, Ensembl:ENSG00000164031, GeneCard:DNAJB14, HGNC:HGNC:25881, HumanCyc Gene:HS08984, ModBase:Q8TBM8, NCBI Gene:79982, RefSeq DNA:NT_016354, RefSeq Protein:NP_001026893, RefSeq RNA:NM_001031723, UniProtKB:Q8TBM8 No chr4 100817405 100867883 99896248 99946726 +PA27415 3300 HGNC:5228 ENSG00000135924 DnaJ heat shock protein family (Hsp40) member B2 DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 CMT2T, HSJ1, HSPF3 Yes No Comparative Toxicogenomics Database:3300, Ensembl:ENSG00000135924, GenAtlas:DNAJB2, GeneCard:DNAJB2, HGNC:HGNC:5228, HumanCyc Gene:HS06086, ModBase:P25686, NCBI Gene:3300, OMIM:604139, RefSeq DNA:NT_005403, RefSeq Protein:NP_001034639, RefSeq Protein:NP_006727, RefSeq RNA:NM_001039550, RefSeq RNA:NM_006736, UCSC Genome Browser:NM_006736, UniProtKB:P25686, UniProtKB:Q53QD7 No chr2 220144040 220151622 219279318 219286900 +PA162383828 414061 HGNC:32397 ENSG00000227802 DnaJ (Hsp40) homolog, subfamily B, member 3 DNAJB3 HCG3 Yes No Ensembl:ENSG00000227802, GeneCard:DNAJB3, HGNC:HGNC:32397, NCBI Gene:414061, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120, RefSeq Protein:NP_001001394, RefSeq RNA:NM_001001394, UniProtKB:Q8WWF6 No chr2 234651396 234652661 233742750 233744015 +PA27416 11080 HGNC:14886 ENSG00000162616 DnaJ heat shock protein family (Hsp40) member B4 DNAJB4 DnaJ (Hsp40) homolog, subfamily B, member 4 HLJ1 Yes No Comparative Toxicogenomics Database:11080, Ensembl:ENSG00000162616, GenAtlas:DNAJB4, GeneCard:DNAJB4, HGNC:HGNC:14886, HumanCyc Gene:HS08705, ModBase:Q9UDY4, NCBI Gene:11080, OMIM:611327, RefSeq DNA:NT_032977, RefSeq Protein:NP_008965, RefSeq RNA:NM_007034, UCSC Genome Browser:NM_007034, UniProtKB:Q9UDY4 No chr1 78444847 78483648 77979158 78017964 +PA27417 25822 HGNC:14887 ENSG00000137094 DnaJ heat shock protein family (Hsp40) member B5 DNAJB5 DnaJ (Hsp40) homolog, subfamily B, member 5 Hsc40 Yes No Ensembl:ENSG00000137094, GenAtlas:DNAJB5, GeneCard:DNAJB5, HGNC:HGNC:14887, HumanCyc Gene:HS06269, ModBase:O75953, NCBI Gene:25822, OMIM:611328, RefSeq DNA:NT_008413, RefSeq Protein:NP_001128476, RefSeq Protein:NP_001128477, RefSeq Protein:NP_036398, RefSeq RNA:NM_001135004, RefSeq RNA:NM_001135005, RefSeq RNA:NM_012266, UCSC Genome Browser:NM_012266, UniProtKB:B4DSA6, UniProtKB:O75953 No chr9 34989638 34998430 34989369 34998433 +PA27418 10049 HGNC:14888 ENSG00000105993 DnaJ heat shock protein family (Hsp40) member B6 DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 LGMD1D, MRJ Yes No Comparative Toxicogenomics Database:10049, Ensembl:ENSG00000105993, GenAtlas:DNAJB6, GeneCard:DNAJB6, HGNC:HGNC:14888, HumanCyc Gene:HS02842, ModBase:O75190, NCBI Gene:10049, OMIM:611332, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_005485, RefSeq Protein:NP_490647, RefSeq RNA:NM_005494, RefSeq RNA:NM_058246, UCSC Genome Browser:NM_005494, UniProtKB:O75190 No chr7 157129692 157210133 157337004 157417439 +PA134961522 150353 HGNC:24986 ENSG00000172404 DnaJ heat shock protein family (Hsp40) member B7 DNAJB7 DnaJ (Hsp40) homolog, subfamily B, member 7 HSC3 Yes No Comparative Toxicogenomics Database:150353, Ensembl:ENSG00000172404, GeneCard:DNAJB7, HGNC:HGNC:24986, HumanCyc Gene:HS16083, ModBase:Q7Z6W7, NCBI Gene:150353, OMIM:611336, RefSeq DNA:NT_011520, RefSeq Protein:NP_660157, RefSeq RNA:NM_145174, UniProtKB:Q7Z6W7 No chr22 41255553 41258130 40859549 40862126 +PA134881798 165721 HGNC:23699 ENSG00000179407 DnaJ heat shock protein family (Hsp40) member B8 DNAJB8 DnaJ (Hsp40) homolog, subfamily B, member 8 CT156, MGC33884 Yes No Comparative Toxicogenomics Database:165721, Ensembl:ENSG00000179407, GeneCard:DNAJB8, HGNC:HGNC:23699, HumanCyc Gene:HS11377, ModBase:Q8NHS0, NCBI Gene:165721, OMIM:611337, RefSeq DNA:NT_005612, RefSeq Protein:NP_699161, RefSeq RNA:NM_153330, UniProtKB:B3KWV7, UniProtKB:Q8NHS0 No chr3 128181275 128186091 128462432 128467248 +PA27419 4189 HGNC:6968 ENSG00000128590 DnaJ heat shock protein family (Hsp40) member B9 DNAJB9 DnaJ (Hsp40) homolog, subfamily B, member 9 MDG1 Yes No Comparative Toxicogenomics Database:4189, Ensembl:ENSG00000128590, GenAtlas:DNAJB9, GeneCard:DNAJB9, HGNC:HGNC:6968, HumanCyc Gene:HS05199, ModBase:Q9UBS3, NCBI Gene:4189, OMIM:602634, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_036460, RefSeq RNA:NM_012328, UCSC Genome Browser:NM_012328, UniProtKB:Q6FIF1, UniProtKB:Q9UBS3 No chr7 108210189 108215294 108569745 108574850 +PA128394706 64215 HGNC:20090 ENSG00000136770 DnaJ heat shock protein family (Hsp40) member C1 DNAJC1 DnaJ (Hsp40) homolog, subfamily C, member 1 DNAJL1, ERdj1, MTJ1 Yes No Ensembl:ENSG00000136770, GeneCard:DNAJC1, HGNC:HGNC:20090, HumanCyc Gene:HS06211, ModBase:Q96KC8, NCBI Gene:64215, OMIM:611207, RefSeq DNA:NT_008705, RefSeq Protein:NP_071760, RefSeq RNA:NM_022365, UCSC Genome Browser:NM_022365, UniProtKB:Q96KC8 No chr10 22045477 22292679 21756548 22003768 +PA134917195 54431 HGNC:24637 ENSG00000077232 DnaJ heat shock protein family (Hsp40) member C10 DNAJC10 """DnaJ (Hsp40) homolog, subfamily C, member 10"", ""protein disulfide isomerase family A, member 19""" ERdj5, PDIA19 Yes No Comparative Toxicogenomics Database:54431, Ensembl:ENSG00000077232, GeneCard:DNAJC10, HGNC:HGNC:24637, HumanCyc Gene:HS01234, ModBase:Q96K38, NCBI Gene:54431, OMIM:607987, RefSeq DNA:NT_005403, RefSeq Protein:NP_061854, RefSeq RNA:NM_018981, UniProtKB:Q8IXB1 No chr2 183580768 183644752 182716041 182780025 +PA134893823 55735 HGNC:25570 ENSG00000007923 DnaJ heat shock protein family (Hsp40) member C11 DNAJC11 DnaJ (Hsp40) homolog, subfamily C, member 11 FLJ10737 Yes No Comparative Toxicogenomics Database:55735, Ensembl:ENSG00000007923, GeneCard:DNAJC11, HGNC:HGNC:25570, HumanCyc Gene:HS12027, ModBase:Q9NVH1, NCBI Gene:55735, RefSeq DNA:NT_021937, RefSeq Protein:NP_060668, RefSeq RNA:NM_018198, UniProtKB:Q9NVH1 No chr1 6694228 6761966 6634168 6701906 +PA134931354 56521 HGNC:28908 ENSG00000108176 DnaJ heat shock protein family (Hsp40) member C12 DNAJC12 """DnaJ (Hsp40) homolog, subfamily C, member 12"", ""J domain protein 1""" JDP1 Yes No Comparative Toxicogenomics Database:56521, Ensembl:ENSG00000108176, GeneCard:DNAJC12, HGNC:HGNC:28908, HumanCyc Gene:HS03068, ModBase:Q9UKB3, NCBI Gene:56521, OMIM:606060, RefSeq DNA:NT_030059, RefSeq Protein:NP_068572, RefSeq Protein:NP_957714, RefSeq RNA:NM_021800, RefSeq RNA:NM_201262, UniProtKB:Q6IAH1, UniProtKB:Q9UKB3 No chr10 69556427 69597937 67796665 67838179 +PA134947358 23317 HGNC:30343 ENSG00000138246 DnaJ heat shock protein family (Hsp40) member C13 DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13 KIAA0678, RME8 Yes No Ensembl:ENSG00000138246, GeneCard:DNAJC13, HGNC:HGNC:30343, NCBI Gene:23317, RefSeq DNA:NT_005612, RefSeq Protein:NP_056083, RefSeq RNA:NM_015268, UniProtKB:O75165 No chr3 132136361 132257876 132417527 132539032 +PA134940402 85406 HGNC:24581 ENSG00000135392 DnaJ heat shock protein family (Hsp40) member C14 DNAJC14 DnaJ (Hsp40) homolog, subfamily C, member 14 DNAJ, DRIP78, FLJ32792, HDJ3, LIP6 Yes No Ensembl:ENSG00000135392, GeneCard:DNAJC14, HGNC:HGNC:24581, ModBase:Q6Y2X3, NCBI Gene:85406, OMIM:606092, RefSeq DNA:NT_029419, RefSeq Protein:NP_115740, RefSeq RNA:NM_032364, UniProtKB:Q6Y2X3 No chr12 56214744 56224337 55820960 55829636 +PA134932264 29103 HGNC:20325 ENSG00000120675 DnaJ heat shock protein family (Hsp40) member C15 DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15 DNAJD1, MCJ Yes No Comparative Toxicogenomics Database:29103, Ensembl:ENSG00000120675, GeneCard:DNAJC15, HGNC:HGNC:20325, HumanCyc Gene:HS13000, ModBase:Q9Y5T4, NCBI Gene:29103, RefSeq DNA:NT_024524, RefSeq Protein:NP_037370, RefSeq RNA:NM_013238, UniProtKB:Q9Y5T4 No chr13 43597362 43683306 43023226 43109170 +PA142671964 23341 HGNC:29157 ENSG00000116138 DnaJ heat shock protein family (Hsp40) member C16 DNAJC16 DnaJ (Hsp40) homolog, subfamily C, member 16 KIAA0962 Yes No Comparative Toxicogenomics Database:23341, Ensembl:ENSG00000116138, GeneCard:DNAJC16, HGNC:HGNC:29157, ModBase:Q9Y2G8, NCBI Gene:23341, RefSeq DNA:NT_004610, RefSeq Protein:NP_056106, RefSeq RNA:NM_015291, UniProtKB:Q9Y2G8 No chr1 15853343 15898228 15526694 15571733 +PA142671965 55192 HGNC:25556 ENSG00000104129 DnaJ heat shock protein family (Hsp40) member C17 DNAJC17 DnaJ (Hsp40) homolog, subfamily C, member 17 FLJ10634 Yes No Ensembl:ENSG00000104129, GeneCard:DNAJC17, HGNC:HGNC:25556, HumanCyc Gene:HS02544, ModBase:Q9NVM6, NCBI Gene:55192, RefSeq DNA:NT_010194, RefSeq Protein:NP_060633, RefSeq RNA:NM_018163, UniProtKB:Q9NVM6 No chr15 41060067 41099676 40767448 40807478 +PA142671966 202052 HGNC:28429 ENSG00000170464 DnaJ heat shock protein family (Hsp40) member C18 DNAJC18 DnaJ (Hsp40) homolog, subfamily C, member 18 MGC29463 Yes No Ensembl:ENSG00000170464, GeneCard:DNAJC18, HGNC:HGNC:28429, HumanCyc Gene:HS10134, ModBase:Q9H819, NCBI Gene:202052, RefSeq DNA:NT_034772, RefSeq Protein:NP_689899, RefSeq RNA:NM_152686, UniProtKB:Q9H819 No chr5 138745892 138780171 139410203 139439525 +PA142671967 131118 HGNC:30528 ENSG00000205981 DnaJ heat shock protein family (Hsp40) member C19 DNAJC19 """DnaJ (Hsp40) homolog, subfamily C, member 19"", ""mitochondrial import inner membrane translocase subunit TIM14""" Pam18, TIMM14, Tim14 Yes No Comparative Toxicogenomics Database:131118, Ensembl:ENSG00000205981, GeneCard:DNAJC19, HGNC:HGNC:30528, ModBase:Q96DA6, NCBI Gene:131118, OMIM:608977, OMIM:610198, RefSeq DNA:NG_022933, RefSeq DNA:NT_005612, RefSeq Protein:NP_001177162, RefSeq Protein:NP_660304, RefSeq RNA:NM_001190233, RefSeq RNA:NM_145261, RefSeq RNA:NR_033721, RefSeq RNA:NR_033722, RefSeq RNA:NR_033723, RefSeq RNA:NR_033724, RefSeq RNA:NR_033725, UniProtKB:C9JBV1, UniProtKB:Q96DA6 No chr3 180701497 180707562 180983709 180989774 +PA162383835 27000 HGNC:13192 ENSG00000105821 DnaJ heat shock protein family (Hsp40) member C2 DNAJC2 DnaJ (Hsp40) homolog, subfamily C, member 2 MPHOSPH11, MPP11, ZRF1, ZUO1, zuotin Yes No Ensembl:ENSG00000105821, GeneCard:DNAJC2, HGNC:HGNC:13192, HumanCyc Gene:HS02814, NCBI Gene:27000, OMIM:605502, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001123359, RefSeq Protein:NP_055192, RefSeq RNA:NM_001129887, RefSeq RNA:NM_014377, UniProtKB:Q99543 No chr7 102952921 102985320 103312474 103345362 +PA162383874 134218 HGNC:27030 ENSG00000168724 DnaJ heat shock protein family (Hsp40) member C21 DNAJC21 """DnaJ (Hsp40) homolog, subfamily C, member 21"", ""JJJ1 DnaJ domain protein homolog (S. cerevisiae)""" DNAJA5, GS3, JJJ1 Yes No Ensembl:ENSG00000168724, GeneCard:DNAJC21, HGNC:HGNC:27030, ModBase:Q5F1R6, NCBI Gene:134218, RefSeq DNA:NT_006576, RefSeq Protein:NP_001012339, RefSeq Protein:NP_919259, RefSeq RNA:NM_001012339, RefSeq RNA:NM_194283, UniProtKB:Q5F1R6 No chr5 34929698 34959069 34929540 34958964 +PA162383905 79962 HGNC:25802 ENSG00000178401 DnaJ heat shock protein family (Hsp40) member C22 DNAJC22 """DnaJ (Hsp40) homolog, subfamily C, member 22"", ""wurst homolog (Drosophila)""" FLJ13236, wus Yes No Ensembl:ENSG00000178401, GeneCard:DNAJC22, HGNC:HGNC:25802, HumanCyc Gene:HS17046, ModBase:Q8N4W6, NCBI Gene:79962, RefSeq DNA:NT_029419, RefSeq Protein:NP_079178, RefSeq RNA:NM_024902, UniProtKB:Q8N4W6 No chr12 49740721 49747467 49346917 49353684 +PA162383906 120526 HGNC:26979 ENSG00000170946 DnaJ heat shock protein family (Hsp40) member C24 DNAJC24 DnaJ (Hsp40) homolog, subfamily C, member 24 DPH4, JJJ3, ZCSL3 Yes No Ensembl:ENSG00000170946, GeneCard:DNAJC24, HGNC:HGNC:26979, NCBI Gene:120526, OMIM:611072, RefSeq DNA:NT_009237, RefSeq Protein:NP_859057, RefSeq RNA:NM_181706, UniProtKB:Q6P3W2 No chr11 31391377 31454382 31369829 31432835 +PA162383921 548645 HGNC:34187 ENSG00000059769 DnaJ heat shock protein family (Hsp40) member C25 DNAJC25 DnaJ (Hsp40) homolog, subfamily C , member 25 bA16L21.2.1 Yes No Ensembl:ENSG00000059769, GeneCard:DNAJC25, HGNC:HGNC:34187, ModBase:Q9H1X3, NCBI Gene:548645, RefSeq DNA:NT_008470, RefSeq Protein:NP_001015882, RefSeq RNA:NM_001015882, RefSeq RNA:NR_037148 No chr9 114393632 114416631 111631352 111654351 +PA165585764 552891 HGNC:37501 ENSG00000244115 DNAJC25-GNG10 readthrough DNAJC25-GNG10 Yes No Ensembl:ENSG00000244115, GeneCard:DNAJC25-GNG10, HGNC:HGNC:37501, NCBI Gene:552891, RefSeq DNA:NT_008470, RefSeq Protein:NP_004116, RefSeq RNA:NM_004125, UniProtKB:Q9H1X3 No chr9 114393632 114432526 111631352 111670246 +PA164718860 51277 HGNC:30290 ENSG00000115137 DnaJ heat shock protein family (Hsp40) member C27 DNAJC27 DnaJ (Hsp40) homolog, subfamily C, member 27 RBJ, RabJS Yes No Ensembl:ENSG00000115137, GeneCard:DNAJC27, HGNC:HGNC:30290, HumanCyc Gene:HS03837, ModBase:Q9NZQ0, NCBI Gene:51277, RefSeq DNA:NT_022184, RefSeq Protein:NP_001185488, RefSeq Protein:NP_057628, RefSeq RNA:NM_001198559, RefSeq RNA:NM_016544, UniProtKB:Q9NZQ0 No chr2 25166505 25194963 24943636 24972094 +PA162383922 54943 HGNC:1297 ENSG00000177692 DnaJ heat shock protein family (Hsp40) member C28 DNAJC28 """DnaJ (Hsp40) homolog, subfamily C, member 28"", ""Orf28""" C21orf55, C21orf78 Yes No Ensembl:ENSG00000177692, GeneCard:DNAJC28, HGNC:HGNC:1297, HumanCyc Gene:HS11203, ModBase:Q9NX36, NCBI Gene:54943, RefSeq DNA:NT_011512, RefSeq Protein:NP_001035282, RefSeq Protein:NP_060303, RefSeq RNA:NM_001040192, RefSeq RNA:NM_017833, UniProtKB:Q9NX36 No chr21 34860238 34864023 33488055 33491723 +PA27420 5611 HGNC:9439 ENSG00000102580 DnaJ heat shock protein family (Hsp40) member C3 DNAJC3 """DnaJ (Hsp40) homolog, subfamily C, member 3"", ""endoplasmic reticulum DNA J domain-containing protein 6"", ""interferon-induced, double-stranded RNA-activated protein kinase inhibitor"", ""protein kinase inhibitor of 58 kDa""" ERdj6, HP58, P58, P58IPK, PRKRI, p58(IPK) Yes No Comparative Toxicogenomics Database:5611, Ensembl:ENSG00000102580, GenAtlas:DNAJC3, GeneCard:DNAJC3, HGNC:HGNC:9439, HumanCyc Gene:HS02399, ModBase:Q13217, NCBI Gene:5611, OMIM:601184, RefSeq DNA:NT_009952, RefSeq Protein:NP_006251, RefSeq RNA:NM_006260, UCSC Genome Browser:NM_006260, UniProtKB:A8KA82, UniProtKB:Q13217 No chr13 96329393 96447243 95677139 95794989 +PA162383931 84277 HGNC:16410 ENSG00000176410 DnaJ heat shock protein family (Hsp40) member C30 DNAJC30 DnaJ (Hsp40) homolog, subfamily C, member 30 WBSCR18 Yes No Ensembl:ENSG00000176410, GeneCard:DNAJC30, HGNC:HGNC:16410, HumanCyc Gene:HS11050, ModBase:Q96LL9, NCBI Gene:84277, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_115693, RefSeq RNA:NM_032317, UniProtKB:B3KSU4, UniProtKB:Q96LL9 No chr7 73095248 73097781 73680918 73683451 +PA27421 3338 HGNC:5271 ENSG00000110011 DnaJ heat shock protein family (Hsp40) member C4 DNAJC4 DnaJ (Hsp40) homolog, subfamily C, member 4 HSPF2, MCG18 Yes No Comparative Toxicogenomics Database:3338, Ensembl:ENSG00000110011, GenAtlas:DNAJC4, GeneCard:DNAJC4, HGNC:HGNC:5271, ModBase:Q9NNZ3, NCBI Gene:3338, OMIM:604189, RefSeq DNA:NT_167190, RefSeq Protein:NP_005519, RefSeq RNA:NM_005528, UCSC Genome Browser:NM_005528, UniProtKB:Q9NNZ3 No chr11 63997594 64001753 64230281 64234281 +PA27422 80331 HGNC:16235 ENSG00000101152 DnaJ heat shock protein family (Hsp40) member C5 DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 CLN4, DNAJC5A, FLJ00118, FLJ13070 Yes No Comparative Toxicogenomics Database:1202, Comparative Toxicogenomics Database:80331, Ensembl:ENSG00000101152, GenAtlas:CLN4, GenAtlas:DNAJC5, GeneCard:CLN4, GeneCard:DNAJC5, HGNC:HGNC:16235, HumanCyc Gene:HS02203, ModBase:Q9H3Z4, NCBI Gene:80331, OMIM:204300, OMIM:611203, RefSeq DNA:NT_011333, RefSeq Protein:NP_079495, RefSeq RNA:NM_025219, UniProtKB:Q9H3Z4 No chr20 62526455 62567384 63895102 63936031 +PA134962894 85479 HGNC:24138 ENSG00000147570 DnaJ heat shock protein family (Hsp40) member C5 beta DNAJC5B DnaJ (Hsp40) homolog, subfamily C, member 5 beta CSP-beta, MGC26226 Yes No Comparative Toxicogenomics Database:85479, Ensembl:ENSG00000147570, GeneCard:DNAJC5B, HGNC:HGNC:24138, HumanCyc Gene:HS07447, ModBase:Q9UF47, NCBI Gene:85479, RefSeq DNA:NT_008183, RefSeq Protein:NP_149096, RefSeq RNA:NM_033105, UniProtKB:Q9UF47 No chr8 66933791 67012755 66014983 66100520 +PA134880296 285126 HGNC:24844 ENSG00000163793 DnaJ heat shock protein family (Hsp40) member C5 gamma DNAJC5G DnaJ (Hsp40) homolog, subfamily C, member 5 gamma CSP-gamma, FLJ40417 Yes No Ensembl:ENSG00000163793, GeneCard:DNAJC5G, HGNC:HGNC:24844, HumanCyc Gene:HS08936, ModBase:Q8N7S2, NCBI Gene:285126, RefSeq DNA:NT_022184, RefSeq Protein:NP_775921, RefSeq RNA:NM_173650, UniProtKB:Q53SY5, UniProtKB:Q8N7S2 No chr2 27498289 27505214 27275421 27281430 +PA27423 9829 HGNC:15469 ENSG00000116675 DnaJ heat shock protein family (Hsp40) member C6 DNAJC6 """DnaJ (Hsp40) homolog, subfamily C, member 6"", ""auxilin""" KIAA0473, PARK19 Yes No Ensembl:ENSG00000116675, GenAtlas:DNAJC6, GeneCard:DNAJC6, HGNC:HGNC:15469, HumanCyc Gene:HS04032, ModBase:O75061, NCBI Gene:9829, OMIM:608375, RefSeq DNA:NT_032977, RefSeq Protein:NP_055602, RefSeq RNA:NM_014787, UCSC Genome Browser:NM_014787, UniProtKB:O75061 No chr1 65720133 65881552 65264694 65415869 +PA27424 7266 HGNC:12392 ENSG00000168259 DnaJ heat shock protein family (Hsp40) member C7 DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 TPR2, TTC2 Yes No Comparative Toxicogenomics Database:7266, Ensembl:ENSG00000168259, GenAtlas:DNAJC7, GeneCard:DNAJC7, HGNC:HGNC:12392, HumanCyc Gene:HS09718, ModBase:Q99615, NCBI Gene:7266, OMIM:601964, RefSeq DNA:NT_010783, RefSeq Protein:NP_001138238, RefSeq Protein:NP_003306, RefSeq RNA:NM_001144766, RefSeq RNA:NM_003315, RefSeq RNA:NR_029431, UCSC Genome Browser:NM_003315, UniProtKB:Q7Z784, UniProtKB:Q99615 No chr17 40128439 40169715 41976421 42021371 +PA27425 22826 HGNC:15470 ENSG00000126698 DnaJ heat shock protein family (Hsp40) member C8 DNAJC8 DnaJ (Hsp40) homolog, subfamily C, member 8 SPF31 Yes No Comparative Toxicogenomics Database:22826, Ensembl:ENSG00000126698, GenAtlas:DNAJC8, GeneCard:DNAJC8, HGNC:HGNC:15470, HumanCyc Gene:HS05039, ModBase:O75937, NCBI Gene:22826, RefSeq DNA:NT_004610, RefSeq Protein:NP_055095, RefSeq RNA:NM_014280, UCSC Genome Browser:NM_014280, UniProtKB:O75937 No chr1 28526789 28559542 28200278 28233031 +PA134925764 319111 HGNC:19928 ENSG00000259022 DnaJ (Hsp40) homolog, subfamily C, member 8 pseudogene 1 DNAJC8P1 Yes No Ensembl:ENSG00000259022, GeneCard:DNAJC8P1, HGNC:HGNC:19928, NCBI Gene:319111, RefSeq DNA:NG_002493, RefSeq DNA:NT_026437 No chr14 35898956 35900532 35429750 35431326 +PA38797 23234 HGNC:19123 ENSG00000213551 DnaJ heat shock protein family (Hsp40) member C9 DNAJC9 DnaJ (Hsp40) homolog, subfamily C, member 9 JDD1, SB73 Yes No Comparative Toxicogenomics Database:23234, Ensembl:ENSG00000213551, GenAtlas:DNAJC9, GeneCard:DNAJC9, HGNC:HGNC:19123, ModBase:Q8WXX5, NCBI Gene:23234, OMIM:611206, RefSeq DNA:NT_030059, RefSeq Protein:NP_056005, RefSeq RNA:NM_015190, UCSC Genome Browser:NM_015190, UniProtKB:B2RMW6, UniProtKB:Q8WXX5 No chr10 75002582 75007025 73241954 73247331 +PA134914452 414245 HGNC:31432 ENSG00000236756 DNAJC9 antisense RNA 1 DNAJC9-AS1 bA537A6.3 Yes No Ensembl:ENSG00000236756, GeneCard:C10orf103, HGNC:HGNC:31432, NCBI Gene:414245, RefSeq RNA:NR_038373 No chr10 75007125 75036742 73247367 73276984 +PA162383938 83544 HGNC:23247 ENSG00000119661 dynein axonemal light chain 1 DNAL1 dynein, axonemal, light chain 1 1700010H15RiK, C14orf168, CILD16, MGC12435 Yes No Ensembl:ENSG00000119661, GeneCard:DNAL1, HGNC:HGNC:23247, HumanCyc Gene:HS12950, NCBI Gene:83544, OMIM:610062, RefSeq DNA:NT_026437, RefSeq Protein:NP_001188295, RefSeq Protein:NP_113615, RefSeq RNA:NM_001201366, RefSeq RNA:NM_031427, UniProtKB:Q4LDG9 No chr14 74111578 74170431 73644875 73703728 +PA27426 10126 HGNC:2955 ENSG00000100246 dynein axonemal light chain 4 DNAL4 dynein, axonemal, light chain 4 PIG27, dJ327J16 Yes No Ensembl:ENSG00000100246, GenAtlas:DNAL4, GeneCard:DNAL4, HGNC:HGNC:2955, HumanCyc Gene:HS02016, ModBase:O96015, NCBI Gene:10126, OMIM:610565, RefSeq DNA:NT_011520, RefSeq Protein:NP_005731, RefSeq RNA:NM_005740, UCSC Genome Browser:NM_005740, UniProtKB:O96015, UniProtKB:Q6FGD0 No chr22 39174513 39190161 38778508 38794156 +PA38381 7802 HGNC:14353 ENSG00000163879 dynein axonemal light intermediate chain 1 DNALI1 """dJ423B22.5 (axonemal dynein light chain (hp28))"", ""dynein, axonemal, light intermediate chain 1"", ""inner dynein arm, homolog of chlamydomonas"", ""inner dynein arm, homolog of clamydomonas""" P28, dJ423B22.5, hp28 Yes No Ensembl:ENSG00000163879, GenAtlas:DNALI1, GeneCard:DNALI1, HGNC:HGNC:14353, HumanCyc Gene:HS08958, ModBase:O14645, NCBI Gene:7802, OMIM:602135, RefSeq DNA:NT_032977, RefSeq Protein:NP_003453, RefSeq RNA:NM_003462, UCSC Genome Browser:NM_003462, UniProtKB:O14645 No chr1 38022520 38032458 37556919 37566857 +PA27427 1773 HGNC:2956 ENSG00000213918 deoxyribonuclease 1 DNASE1 deoxyribonuclease I DNL1 Yes No Comparative Toxicogenomics Database:1773, Ensembl:ENSG00000213918, GenAtlas:DNASE1, GeneCard:DNASE1, HGNC:HGNC:2956, HumanCyc Gene:HS05036, ModBase:P24855, NCBI Gene:1773, OMIM:125505, OMIM:152700, RefSeq DNA:NG_009285, RefSeq DNA:NT_010393, RefSeq Protein:NP_005214, RefSeq RNA:NM_005223, UCSC Genome Browser:NM_005223, UniProtKB:P24855, UniProtKB:Q14UU9 No chr16 3661772 3712689 3611705 3665472 +PA27428 1774 HGNC:2957 ENSG00000013563 deoxyribonuclease 1 like 1 DNASE1L1 DNase X, deoxyribonuclease I-like 1 DNAS1L1, DNASEX, DNL1L, XIB Yes No Ensembl:ENSG00000013563, GenAtlas:DNASE1L1, GeneCard:DNASE1L1, HGNC:HGNC:2957, HumanCyc Gene:HS00350, ModBase:P49184, NCBI Gene:1774, OMIM:300081, RefSeq DNA:NG_012884, RefSeq DNA:NT_167198, RefSeq Protein:NP_001009932, RefSeq Protein:NP_001009933, RefSeq Protein:NP_001009934, RefSeq Protein:NP_006721, RefSeq RNA:NM_001009932, RefSeq RNA:NM_001009933, RefSeq RNA:NM_001009934, RefSeq RNA:NM_006730, UCSC Genome Browser:NM_006730, UniProtKB:P49184 No chrX 153629579 153640428 154401236 154412101 +PA27429 1775 HGNC:2958 ENSG00000167968 deoxyribonuclease 1 like 2 DNASE1L2 deoxyribonuclease I-like 2 DNAS1L2 Yes No Comparative Toxicogenomics Database:1775, Ensembl:ENSG00000167968, GenAtlas:DNASE1L2, GeneCard:DNASE1L2, HGNC:HGNC:2958, HumanCyc Gene:HS09666, ModBase:Q92874, NCBI Gene:1775, OMIM:602622, RefSeq DNA:NT_010393, RefSeq Protein:NP_001365, RefSeq RNA:NM_001374, UCSC Genome Browser:NM_001374, UniProtKB:Q6JVM3, UniProtKB:Q92874 No chr16 2286253 2288712 2236252 2238711 +PA27430 1776 HGNC:2959 ENSG00000163687 deoxyribonuclease 1L3 DNASE1L3 DNase gamma, DNaseY, LS-DNase, deoxyribonuclease 1 like 3, deoxyribonuclease I-like 3 D3, DNAS1L3, LSD Yes No Comparative Toxicogenomics Database:1776, Ensembl:ENSG00000163687, GenAtlas:DNASE1L3, GeneCard:DNASE1L3, HGNC:HGNC:2959, HumanCyc Gene:HS08914, ModBase:Q13609, NCBI Gene:1776, OMIM:602244, RefSeq DNA:NT_022517, RefSeq Protein:NP_004935, RefSeq RNA:NM_004944, UCSC Genome Browser:NM_004944, UniProtKB:Q13609 No chr3 58178353 58196730 58192626 58211003 +PA27431 1777 HGNC:2960 ENSG00000105612 deoxyribonuclease 2, lysosomal DNASE2 deoxyribonuclease II, lysosomal DNL, DNL2 Yes No Ensembl:ENSG00000105612, GenAtlas:DNASE2, GeneCard:DNASE2, HGNC:HGNC:2960, HumanCyc Gene:HS02772, ModBase:O00115, NCBI Gene:1777, OMIM:126350, RefSeq DNA:NT_011295, RefSeq Protein:NP_001366, RefSeq RNA:NM_001375, UCSC Genome Browser:NM_001375, UniProtKB:O00115 No chr19 12986025 12992409 12875211 12881521 +PA134993904 58511 HGNC:28875 ENSG00000137976 deoxyribonuclease 2 beta DNASE2B deoxyribonuclease II beta DLAD Yes No Comparative Toxicogenomics Database:58511, Ensembl:ENSG00000137976, GeneCard:DNASE2B, HGNC:HGNC:28875, HumanCyc Gene:HS06431, NCBI Gene:58511, OMIM:608057, RefSeq DNA:NT_032977, RefSeq Protein:NP_067056, RefSeq Protein:NP_490649, RefSeq RNA:NM_021233, RefSeq RNA:NM_058248, UniProtKB:Q66K39, UniProtKB:Q8WZ79 No chr1 84864215 84880691 84398532 84415895 +PA134931157 373863 HGNC:23799 ENSG00000256453 DND microRNA-mediated repression inhibitor 1 DND1 dead end homolog 1 (zebrafish) MGC34750, RBMS4 Yes No Ensembl:ENSG00000256453, GeneCard:DND1, HGNC:HGNC:23799, ModBase:Q8IYX4, NCBI Gene:373863, OMIM:609385, RefSeq DNA:NT_029289, RefSeq DNA:NT_167251, RefSeq Protein:NP_919225, RefSeq RNA:NM_194249, UniProtKB:Q8IYX4 No chr5 140050381 140053171 140670796 140673586 +PA134919831 644157 HGNC:31444 ENSG00000264070 dead end homolog 1 pseudogene 1 DND1P1 Yes No Ensembl:ENSG00000264070, GeneCard:DND1P1, HGNC:HGNC:31444, NCBI Gene:644157 No chr17 43663230 43664790 45585864 45587424 +PA134879223 644256 HGNC:31445 dead end homolog 1 pseudogene 2 DND1P2 Yes No GeneCard:DND1P2, HGNC:HGNC:31445, NCBI Gene:644256 No chr17 44336419 44337979 46259053 46260613 +PA162383959 92737 HGNC:24456 ENSG00000187957 delta/notch like EGF repeat containing DNER delta/notch-like EGF repeat containing UNQ26, bet Yes No Ensembl:ENSG00000187957, GeneCard:DNER, HGNC:HGNC:24456, HumanCyc Gene:HS00311, ModBase:Q9UDM2, NCBI Gene:92737, OMIM:607299, RefSeq DNA:NT_005403, RefSeq Protein:NP_620711, RefSeq RNA:NM_139072, UniProtKB:Q8NFT8 No chr2 230222345 230579286 229357629 229714570 +PA142671968 144132 HGNC:26532 ENSG00000179532 dynein heavy chain domain 1 DNHD1 C11orf47, CCDC35, DHCD1, DKFZp686J0796, DNHD1L, FLJ32752, FLJ35709, FLJ46184 Yes No Ensembl:ENSG00000179532, GeneCard:DNHD1, HGNC:HGNC:26532, ModBase:Q96M86, NCBI Gene:144132, RefSeq DNA:NT_009237, RefSeq Protein:NP_653267, RefSeq Protein:NP_775860, RefSeq RNA:NM_144666, RefSeq RNA:NM_173589, UniProtKB:B0I1S4, UniProtKB:Q2NKK8, UniProtKB:Q96M86 No chr11 6517994 6593255 6497296 6572025 +PA162384018 728489 HGNC:33879 ENSG00000213221 DNL-type zinc finger DNLZ HSP70 escort protein, translocase of inner mitochondrial membrane 15 homolog (yeast) C9orf151, HEP, RP11-413M3.2, TIMM15, ZIM17, bA413M3.2 Yes No Ensembl:ENSG00000213221, GeneCard:DNLZ, HGNC:HGNC:33879, ModBase:Q5SXM8, NCBI Gene:728489, RefSeq DNA:NT_024000, RefSeq Protein:NP_001074318, RefSeq RNA:NM_001080849, UniProtKB:Q5SXM8 No chr9 139256352 139268111 136361900 136363811 +PA27440 1759 HGNC:2972 ENSG00000106976 dynamin 1 DNM1 DNM Yes No Comparative Toxicogenomics Database:1759, Ensembl:ENSG00000106976, GenAtlas:DNM1, GeneCard:DNM1, HGNC:HGNC:2972, HumanCyc Gene:HS02963, ModBase:Q05193, NCBI Gene:1759, OMIM:602377, RefSeq DNA:NT_008470, RefSeq Protein:NP_001005336, RefSeq Protein:NP_004399, RefSeq RNA:NM_001005336, RefSeq RNA:NM_004408, UCSC Genome Browser:NM_004408, UniProtKB:Q05193 No chr9 130965634 131017528 128203355 128255248 +PA27441 10059 HGNC:2973 ENSG00000087470 dynamin 1 like DNM1L dynamin 1-like DRP1, DVLP, DYMPLE, HDYNIV, VPS1 Yes No Comparative Toxicogenomics Database:10059, Ensembl:ENSG00000087470, GenAtlas:DNM1L, GeneCard:DNM1L, HGNC:HGNC:2973, HumanCyc Gene:HS01578, ModBase:O00429, NCBI Gene:10059, OMIM:603850, RefSeq DNA:NG_012219, RefSeq DNA:NT_009714, RefSeq Protein:NP_005681, RefSeq Protein:NP_036192, RefSeq Protein:NP_036193, RefSeq RNA:NM_005690, RefSeq RNA:NM_012062, RefSeq RNA:NM_012063, UCSC Genome Browser:NM_005690, UniProtKB:O00429, UniProtKB:Q59GN9 No chr12 32832134 32898584 32679200 32745650 +PA134993232 387553 HGNC:21135 DNM1 pseudogene 18 DNM1P18 Yes No HGNC:HGNC:21135, NCBI Gene:387553 No chr22 43183096 43184835 42787408 42788584 +PA134985126 387554 HGNC:21136 DNM1 pseudogene 19 DNM1P19 Yes No HGNC:HGNC:21136, NCBI Gene:387554 No chr12 100547374 100550137 100153479 100154771 +PA145008821 196968 HGNC:35199 ENSG00000182397 chromosome 15 open reading frame 51 DNM1P46 Yes No Ensembl:ENSG00000182397, GeneCard:DNM1P46, HGNC:HGNC:35199, NCBI Gene:196968, RefSeq DNA:NT_010274, RefSeq RNA:NR_003260 No chr15 100330361 100347132 99790156 99806927 +PA27442 1785 HGNC:2974 ENSG00000079805 dynamin 2 DNM2 cytoskeletal protein, dynamin II CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII Yes No Comparative Toxicogenomics Database:1785, Ensembl:ENSG00000079805, GenAtlas:DNM2, GeneCard:DNM2, HGNC:HGNC:2974, HumanCyc Gene:HS01338, ModBase:P50570, NCBI Gene:1785, OMIM:160150, OMIM:602378, OMIM:606482, RefSeq DNA:NG_008792, RefSeq DNA:NT_011295, RefSeq Protein:NP_001005360, RefSeq Protein:NP_001005361, RefSeq Protein:NP_001005362, RefSeq Protein:NP_001177645, RefSeq Protein:NP_004936, RefSeq RNA:NM_001005360, RefSeq RNA:NM_001005361, RefSeq RNA:NM_001005362, RefSeq RNA:NM_001190716, RefSeq RNA:NM_004945, UCSC Genome Browser:NM_004945, UniProtKB:A8K1B6, UniProtKB:P50570, UniProtKB:Q8N1K8 No chr19 10828729 10944169 10718053 10831910 +PA134954683 26052 HGNC:29125 ENSG00000197959 dynamin 3 DNM3 Dyna III KIAA0820 Yes No Ensembl:ENSG00000197959, GeneCard:DNM3, HGNC:HGNC:29125, HumanCyc Gene:HS00652, ModBase:Q9NQ68, NCBI Gene:26052, OMIM:611445, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129599, RefSeq Protein:NP_056384, RefSeq RNA:NM_001136127, RefSeq RNA:NM_015569, UniProtKB:Q9UQ16 No chr1 171810618 172387606 171841478 172418466 +PA134950706 23268 HGNC:30373 ENSG00000107554 dynamin binding protein DNMBP scaffold protein TUBA ARHGEF36, KIAA1010, Tuba Yes No Comparative Toxicogenomics Database:23268, Ensembl:ENSG00000107554, GeneCard:DNMBP, HGNC:HGNC:30373, ModBase:Q6XZF7, NCBI Gene:23268, OMIM:611282, RefSeq DNA:NT_030059, RefSeq Protein:NP_056036, RefSeq RNA:NM_015221, UniProtKB:Q6XZF7 No chr10 101635334 101769676 99875571 100009953 +PA164723632 100188954 HGNC:20431 ENSG00000227695 DNMBP antisense RNA 1 DNMBP-AS1 FLJ40792, bA287G8.2 Yes No Ensembl:ENSG00000227695, GeneCard:DNMBP-AS1, HGNC:HGNC:20431, NCBI Gene:100188954, RefSeq DNA:NT_030059, RefSeq RNA:NR_024130 No chr10 101686966 101718755 99927209 99958998 +PA27443 1786 HGNC:2976 ENSG00000130816 DNA methyltransferase 1 DNMT1 DNA (cytosine-5-)-methyltransferase 1 CXXC9, DNMT, MCMT Yes No Comparative Toxicogenomics Database:1786, Ensembl:ENSG00000130816, GenAtlas:DNMT1, GeneCard:DNMT1, HGNC:HGNC:2976, HumanCyc Gene:HS05448, ModBase:P26358, NCBI Gene:1786, OMIM:126375, RefSeq DNA:NT_011295, RefSeq Protein:NP_001124295, RefSeq Protein:NP_001370, RefSeq RNA:NM_001130823, RefSeq RNA:NM_001379, UCSC Genome Browser:NM_001379, UniProtKB:P26358 No chr19 10244021 10305783 10133344 10195135 +PA27445 1788 HGNC:2978 ENSG00000119772 DNA methyltransferase 3 alpha DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha Yes Yes Comparative Toxicogenomics Database:1788, Ensembl:ENSG00000119772, GenAtlas:DNMT3A, GeneCard:DNMT3A, HGNC:HGNC:2978, HumanCyc Gene:HS04338, ModBase:Q9Y6K1, NCBI Gene:1788, OMIM:602769, RefSeq DNA:NT_022184, RefSeq Protein:NP_072046, RefSeq Protein:NP_715640, RefSeq Protein:NP_783328, RefSeq Protein:NP_783329, RefSeq RNA:NM_022552, RefSeq RNA:NM_153759, RefSeq RNA:NM_175629, RefSeq RNA:NM_175630, UCSC Genome Browser:NM_022552, UniProtKB:Q86TE8, UniProtKB:Q8WVA9, UniProtKB:Q9Y6K1 No chr2 25451421 25565459 25232961 25342590 +PA134929174 130802 HGNC:23164 ENSG00000224071 DNA methyltransferase 3A pseudogene 1 DNMT3AP1 Yes No Ensembl:ENSG00000224071, GeneCard:DNMT3AP1, HGNC:HGNC:23164, NCBI Gene:130802, RefSeq DNA:NG_004680, RefSeq DNA:NT_022184 No chr2 67047013 67049760 66819925 66821517 +PA27446 1789 HGNC:2979 ENSG00000088305 DNA methyltransferase 3 beta DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta Yes No Comparative Toxicogenomics Database:1789, Ensembl:ENSG00000088305, GenAtlas:DNMT3B, GeneCard:DNMT3B, HGNC:HGNC:2979, HumanCyc Gene:HS01597, ModBase:Q9UBC3, NCBI Gene:1789, OMIM:242860, OMIM:602900, RefSeq DNA:NG_007290, RefSeq DNA:NT_011362, RefSeq Protein:NP_001193984, RefSeq Protein:NP_001193985, RefSeq Protein:NP_008823, RefSeq Protein:NP_787044, RefSeq Protein:NP_787045, RefSeq Protein:NP_787046, RefSeq RNA:NM_001207055, RefSeq RNA:NM_001207056, RefSeq RNA:NM_006892, RefSeq RNA:NM_175848, RefSeq RNA:NM_175849, RefSeq RNA:NM_175850, UCSC Genome Browser:NM_006892, UniProtKB:Q9UBC3 No chr20 31350191 31397162 32762385 32809356 +PA27447 29947 HGNC:2980 ENSG00000142182 DNA methyltransferase 3 like DNMT3L DNA (cytosine-5-)-methyltransferase 3-like, cytosine-5-methyltransferase 3-like protein, human cytosine-5-methyltransferase 3-like protein MGC1090 Yes No Comparative Toxicogenomics Database:29947, Ensembl:ENSG00000142182, GenAtlas:DNMT3L, GeneCard:DNMT3L, HGNC:HGNC:2980, HumanCyc Gene:HS06902, ModBase:Q9UJW3, NCBI Gene:29947, OMIM:606588, RefSeq DNA:NT_011515, RefSeq Protein:NP_037501, RefSeq Protein:NP_787063, RefSeq RNA:NM_013369, RefSeq RNA:NM_175867, UCSC Genome Browser:NM_013369, UniProtKB:Q9UJW3 No chr21 45666222 45682099 44246339 44262216 +PA27448 23549 HGNC:2981 ENSG00000123992 aspartyl aminopeptidase DNPEP ASPEP, DAP Yes No Comparative Toxicogenomics Database:23549, Ensembl:ENSG00000123992, GenAtlas:DNPEP, GeneCard:DNPEP, HGNC:HGNC:2981, HumanCyc Gene:HS04704, ModBase:Q9ULA0, NCBI Gene:23549, OMIM:611367, RefSeq DNA:NT_005403, RefSeq Protein:NP_036232, RefSeq RNA:NM_012100, UCSC Genome Browser:NM_012100, UniProtKB:Q9NV55, UniProtKB:Q9ULA0 No chr2 220238180 220264730 219372029 219400022 +PA134918815 10591 HGNC:21218 ENSG00000112667 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 DNPH1 C6orf108, dJ330M21.3, rcl Yes No Comparative Toxicogenomics Database:10591, Ensembl:ENSG00000112667, GeneCard:C6orf108, HGNC:HGNC:21218, HumanCyc Gene:HS03603, ModBase:O43598, NCBI Gene:10591, RefSeq DNA:NT_007592, RefSeq Protein:NP_006434, RefSeq Protein:NP_954653, RefSeq RNA:NM_006443, RefSeq RNA:NM_199184, UniProtKB:A8MXA0, UniProtKB:O43598 No chr6 43193367 43197211 43225629 43229473 +PA27449 1791 HGNC:2983 ENSG00000107447 DNA nucleotidylexotransferase DNTT """Terminal deoxynucleotidyltransferase"", ""deoxynucleotidyltransferase, terminal""" TDT Yes No Ensembl:ENSG00000107447, GenAtlas:DNTT, GeneCard:DNTT, HGNC:HGNC:2983, HumanCyc Gene:HS02999, ModBase:P04053, NCBI Gene:1791, OMIM:187410, RefSeq DNA:NT_030059, RefSeq Protein:NP_001017520, RefSeq Protein:NP_004079, RefSeq RNA:NM_001017520, RefSeq RNA:NM_004088, UCSC Genome Browser:NM_004088, UniProtKB:P04053 No chr10 98064085 98098321 96304328 96338564 +PA25709 116092 HGNC:16160 ENSG00000101457 deoxynucleotidyltransferase terminal interacting protein 1 DNTTIP1 """TdT binding protein"", ""deoxynucleotidyltransferase, terminal, interacting protein 1"", ""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)""" C20orf167, Tdif1, dJ447F3.4 Yes No Comparative Toxicogenomics Database:116092, Ensembl:ENSG00000101457, GeneCard:DNTTIP1, HGNC:HGNC:16160, HumanCyc Gene:HS02278, ModBase:Q9H147, NCBI Gene:116092, OMIM:611388, RefSeq DNA:NT_011362, RefSeq Protein:NP_443183, RefSeq RNA:NM_052951, UCSC Genome Browser:NM_052951, UniProtKB:Q9H147 No chr20 44420576 44440066 45791937 45811427 +PA142671963 30836 HGNC:24013 ENSG00000067334 deoxynucleotidyltransferase terminal interacting protein 2 DNTTIP2 """acidic 82 kDa protein mRNA"", ""deoxynucleotidyltransferase, terminal, interacting protein 2""" ERBP, HSU15552, TdIF2 Yes No Comparative Toxicogenomics Database:30836, Ensembl:ENSG00000067334, GeneCard:DNTTIP2, HGNC:HGNC:24013, HumanCyc Gene:HS12186, ModBase:Q5QJE6, NCBI Gene:30836, OMIM:611199, RefSeq DNA:NT_032977, RefSeq Protein:NP_055412, RefSeq RNA:NM_014597, UniProtKB:Q5QJE6 No chr1 94335014 94345474 93869458 93879206 +PA27451 8448 HGNC:2985 ENSG00000149927 double C2 domain alpha DOC2A double C2-like domains, alpha Yes No Ensembl:ENSG00000149927, GenAtlas:DOC2A, GeneCard:DOC2A, HGNC:HGNC:2985, HumanCyc Gene:HS07648, ModBase:Q14183, NCBI Gene:8448, OMIM:604567, RefSeq DNA:NT_010393, RefSeq Protein:NP_003577, RefSeq RNA:NM_003586, UCSC Genome Browser:NM_003586, UniProtKB:Q14183 No chr16 30016835 30023424 30005514 30023280 +PA27452 8447 HGNC:2986 ENSG00000187939, ENSG00000262359 double C2 domain beta DOC2B double C2-like domains, beta DOC2BL Yes No Ensembl:ENSG00000187939, Ensembl:ENSG00000262359, GenAtlas:DOC2B, GeneCard:DOC2B, HGNC:HGNC:2986, ModBase:Q14184, NCBI Gene:8447, OMIM:604568, RefSeq DNA:NG_021143, RefSeq DNA:NT_024972, RefSeq Protein:NP_003576, RefSeq RNA:NM_003585, UCSC Genome Browser:NM_003585, UniProtKB:Q14184 No chr17 6009 31421 146748 181630 +PA27453 1793 HGNC:2987 ENSG00000150760 dedicator of cytokinesis 1 DOCK1 DOwnstream of CrK DOCK180, ced5 Yes No Comparative Toxicogenomics Database:1793, Ensembl:ENSG00000150760, GenAtlas:DOCK1, GeneCard:DOCK1, HGNC:HGNC:2987, HumanCyc Gene:HS07686, ModBase:Q14185, NCBI Gene:1793, OMIM:601403, RefSeq DNA:NT_008818, RefSeq Protein:NP_001371, RefSeq RNA:NM_001380, UCSC Genome Browser:NM_001380, UniProtKB:Q14185 No chr10 128768965 129250780 126905409 127452517 +PA134983197 55619 HGNC:23479 ENSG00000135905 dedicator of cytokinesis 10 DOCK10 zizimin3 KIAA0694, ZIZ3 Yes No Comparative Toxicogenomics Database:55619, Ensembl:ENSG00000135905, GeneCard:DOCK10, HGNC:HGNC:23479, HumanCyc Gene:HS13597, ModBase:Q96BY6, NCBI Gene:55619, OMIM:611518, RefSeq DNA:NT_005403, RefSeq Protein:NP_055504, RefSeq RNA:NM_014689, UniProtKB:Q68DA4, UniProtKB:Q96BY6 No chr2 225629807 225907330 224765090 225042689 +PA128394757 139818 HGNC:23483 ENSG00000147251 dedicator of cytokinesis 11 DOCK11 zizimin2 ACG, FLJ32122, FLJ43653, ZIZ2 Yes No Comparative Toxicogenomics Database:139818, Ensembl:ENSG00000147251, GeneCard:DOCK11, HGNC:HGNC:23483, HumanCyc Gene:HS14202, ModBase:Q5JSL3, NCBI Gene:139818, OMIM:300681, RefSeq DNA:NT_011786, RefSeq Protein:NP_653259, RefSeq RNA:NM_144658, UCSC Genome Browser:NM_144658, UniProtKB:Q5JSL3 No chrX 117629872 117820126 118495664 118686162 +PA134922320 100132537 HGNC:31719 ENSG00000259000 dedicator of cytokinesis 11 pseudogene 1 DOCK11P1 Yes No Ensembl:ENSG00000259000, GeneCard:DOCK11P1, HGNC:HGNC:31719, NCBI Gene:100132537 No chr14 45329161 45335443 44859958 44866240 +PA27454 1794 HGNC:2988 ENSG00000134516 dedicator of cytokinesis 2 DOCK2 KIAA0209 Yes No Ensembl:ENSG00000134516, GenAtlas:DOCK2, GeneCard:DOCK2, HGNC:HGNC:2988, ModBase:Q92608, NCBI Gene:1794, OMIM:603122, RefSeq DNA:NT_023133, RefSeq Protein:NP_004937, RefSeq RNA:NM_004946, UCSC Genome Browser:NM_004946, UniProtKB:Q5XG91, UniProtKB:Q92608 No chr5 169064251 169510386 169637247 170083382 +PA27455 1795 HGNC:2989 ENSG00000088538 dedicator of cytokinesis 3 DOCK3 KIAA0299, MOCA, PBP Yes No Ensembl:ENSG00000088538, GenAtlas:DOCK3, GeneCard:DOCK3, HGNC:HGNC:2989, HumanCyc Gene:HS12307, ModBase:Q8IZD9, NCBI Gene:1795, OMIM:603123, RefSeq DNA:NT_022517, RefSeq Protein:NP_004938, RefSeq RNA:NM_004947, UCSC Genome Browser:NM_004947, UniProtKB:Q8IZD9 No chr3 50712672 51421629 50674969 51384198 +PA134939318 9732 HGNC:19192 ENSG00000128512 dedicator of cytokinesis 4 DOCK4 FLJ34238, KIAA0716 Yes Yes Comparative Toxicogenomics Database:9732, Ensembl:ENSG00000128512, GeneCard:DOCK4, HGNC:HGNC:19192, HumanCyc Gene:HS05190, ModBase:Q8N1I0, NCBI Gene:9732, OMIM:607679, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_055520, RefSeq RNA:NM_014705, UniProtKB:Q8N1I0 No chr7 111366164 111846462 111726108 112206407 +PA134932307 80005 HGNC:23476 ENSG00000147459 dedicator of cytokinesis 5 DOCK5 FLJ21034 Yes No Comparative Toxicogenomics Database:80005, Ensembl:ENSG00000147459, GeneCard:DOCK5, HGNC:HGNC:23476, HumanCyc Gene:HS14206, ModBase:Q9H7D0, NCBI Gene:80005, RefSeq DNA:NT_167187, RefSeq Protein:NP_079216, RefSeq RNA:NM_024940, UniProtKB:Q68DL4, UniProtKB:Q9H7D0 No chr8 25042287 25273227 25184723 25415716 +PA134913824 57572 HGNC:19189 ENSG00000130158 dedicator of cytokinesis 6 DOCK6 KIAA1395, ZIR1 Yes Yes Comparative Toxicogenomics Database:57572, Ensembl:ENSG00000130158, GeneCard:DOCK6, HGNC:HGNC:19189, NCBI Gene:57572, RefSeq DNA:NT_011295, RefSeq Protein:NP_065863, RefSeq RNA:NM_020812, UniProtKB:Q96HP0 No chr19 11309969 11373168 11199293 11262502 +PA134872825 85440 HGNC:19190 ENSG00000116641 dedicator of cytokinesis 7 DOCK7 KIAA1771, ZIR2 Yes No Ensembl:ENSG00000116641, GeneCard:DOCK7, HGNC:HGNC:19190, NCBI Gene:85440, RefSeq DNA:NT_032977, RefSeq Protein:NP_212132, RefSeq RNA:NM_033407, UniProtKB:Q96N67, UniProtKB:Q96NI0 No chr1 62920397 63154039 62454726 62688368 +PA134918866 81704 HGNC:19191 ENSG00000107099 dedicator of cytokinesis 8 DOCK8 FLJ00026, FLJ00152, FLJ00346, ZIR8 Yes Yes Comparative Toxicogenomics Database:81704, Ensembl:ENSG00000107099, GeneCard:DOCK8, HGNC:HGNC:19191, NCBI Gene:81704, OMIM:243700, OMIM:611432, RefSeq DNA:NG_017007, RefSeq DNA:NT_008413, RefSeq Protein:NP_001177387, RefSeq Protein:NP_001180465, RefSeq Protein:NP_982272, RefSeq RNA:NM_001190458, RefSeq RNA:NM_001193536, RefSeq RNA:NM_203447, UniProtKB:Q8NF50 No chr9 214865 465259 211297 465260 +PA134877754 23348 HGNC:14132 ENSG00000088387 dedicator of cytokinesis 9 DOCK9 zizimin1 KIAA1058, ZIZ1 Yes No Comparative Toxicogenomics Database:23348, Ensembl:ENSG00000088387, GeneCard:DOCK9, HGNC:HGNC:14132, HumanCyc Gene:HS01602, ModBase:Q9BZ28, NCBI Gene:23348, OMIM:607325, RefSeq DNA:NT_009952, RefSeq Protein:NP_001123520, RefSeq Protein:NP_001123521, RefSeq Protein:NP_001123522, RefSeq Protein:NP_056111, RefSeq RNA:NM_001130048, RefSeq RNA:NM_001130049, RefSeq RNA:NM_001130050, RefSeq RNA:NM_015296, UniProtKB:A6H8Z6, UniProtKB:B3KX25, UniProtKB:B3KXE2, UniProtKB:Q9BZ29 No chr13 99445741 99738660 98793487 99086406 +PA142671678 83475 HGNC:28662 ENSG00000129932 deoxyhypusine hydroxylase DOHH deoxyhypusine hydroxylase/monooxygenase HLRC1, MGC4293 Yes No Comparative Toxicogenomics Database:83475, Ensembl:ENSG00000129932, GeneCard:DOHH, HGNC:HGNC:28662, HumanCyc Gene:HS05318, ModBase:Q9BU89, NCBI Gene:83475, OMIM:611262, RefSeq DNA:NT_011255, RefSeq Protein:NP_001138637, RefSeq Protein:NP_112594, RefSeq RNA:NM_001145165, RefSeq RNA:NM_031304, UniProtKB:Q9BU89 No chr19 3490819 3500938 3490821 3500940 +PA27456 1796 HGNC:2990 ENSG00000115325 docking protein 1 DOK1 """docking protein 1, 62kDa (downstream of tyrosine kinase 1)"", ""downstream of tyrosine kinase 1""" p62dok Yes No Comparative Toxicogenomics Database:1796, Ensembl:ENSG00000115325, GenAtlas:DOK1, GeneCard:DOK1, HGNC:HGNC:2990, HumanCyc Gene:HS03872, ModBase:Q99704, NCBI Gene:1796, OMIM:602919, RefSeq DNA:NT_022184, RefSeq Protein:NP_001184189, RefSeq Protein:NP_001372, RefSeq RNA:NM_001197260, RefSeq RNA:NM_001381, UCSC Genome Browser:NM_001381, UniProtKB:Q99704 No chr2 74776147 74784678 74549020 74557551 +PA27457 9046 HGNC:2991 ENSG00000147443 docking protein 2 DOK2 """docking protein 2, 56kDa"", ""downstream of tyrosine kinase 2""" Dok-2, p56dok-2 Yes No Comparative Toxicogenomics Database:9046, Ensembl:ENSG00000147443, GenAtlas:DOK2, GeneCard:DOK2, HGNC:HGNC:2991, HumanCyc Gene:HS07435, ModBase:O60496, NCBI Gene:9046, OMIM:604997, RefSeq DNA:NT_167187, RefSeq Protein:NP_003965, RefSeq RNA:NM_003974, UCSC Genome Browser:NM_003974, UniProtKB:O60496 No chr8 21766384 21771290 21908873 21913717 +PA128394725 79930 HGNC:24583 ENSG00000146094 docking protein 3 DOK3 FLJ22570 Yes No Comparative Toxicogenomics Database:79930, Ensembl:ENSG00000146094, GeneCard:DOK3, HGNC:HGNC:24583, HumanCyc Gene:HS07324, ModBase:Q7L591, NCBI Gene:79930, OMIM:611435, RefSeq DNA:NT_023133, RefSeq Protein:NP_001138347, RefSeq Protein:NP_001138348, RefSeq Protein:NP_079148, RefSeq RNA:NM_001144875, RefSeq RNA:NM_001144876, RefSeq RNA:NM_024872, UCSC Genome Browser:NM_024872, UniProtKB:Q7L591 No chr5 176928905 176937490 177501904 177510507 +PA134892921 55715 HGNC:19868 ENSG00000125170 docking protein 4 DOK4 FLJ10488 Yes No Comparative Toxicogenomics Database:55715, Ensembl:ENSG00000125170, GeneCard:DOK4, HGNC:HGNC:19868, HumanCyc Gene:HS04859, ModBase:Q8TEW6, NCBI Gene:55715, OMIM:608333, RefSeq DNA:NT_010498, RefSeq Protein:NP_060580, RefSeq RNA:NM_018110, UniProtKB:Q8TEW6 No chr16 57505870 57520385 57471958 57486473 +PA25724 55816 HGNC:16173 ENSG00000101134 docking protein 5 DOK5 C20orf180, dJ805C22.1 Yes Yes Ensembl:ENSG00000101134, GeneCard:DOK5, HGNC:HGNC:16173, HumanCyc Gene:HS02198, ModBase:Q9P104, NCBI Gene:55816, OMIM:608334, RefSeq DNA:NT_011362, RefSeq Protein:NP_060901, RefSeq RNA:NM_018431, UCSC Genome Browser:NM_018431, UniProtKB:Q9P104 No chr20 53092266 53267710 54475472 54651171 +PA134866995 220164 HGNC:28301 ENSG00000206052 docking protein 6 DOK6 DOK5L, HsT3226, MGC20785 Yes No Ensembl:ENSG00000206052, GeneCard:DOK6, HGNC:HGNC:28301, ModBase:Q6PKX4, NCBI Gene:220164, OMIM:611402, RefSeq DNA:NT_025028, RefSeq Protein:NP_689934, RefSeq RNA:NM_152721, UniProtKB:Q6PKX4 No chr18 67068284 67516323 69401027 69849087 +PA162384035 285489 HGNC:26594 ENSG00000175920 docking protein 7 DOK7 C4orf25, Dok-7, FLJ33718, FLJ39137 Yes No Ensembl:ENSG00000175920, GeneCard:DOK7, HGNC:HGNC:26594, ModBase:Q18PE1, NCBI Gene:285489, OMIM:208150, OMIM:254300, OMIM:610285, RefSeq DNA:NG_013072, RefSeq DNA:NT_006051, RefSeq Protein:NP_001158145, RefSeq Protein:NP_775931, RefSeq RNA:NM_001164673, RefSeq RNA:NM_173660, UniProtKB:Q18PE1 No chr4 3465033 3503203 3463306 3501476 +PA162384054 22845 HGNC:23406 ENSG00000175283 dolichol kinase DOLK dolichol kinase 1 DK1, KIAA1094, TMEM15 Yes No Ensembl:ENSG00000175283, GeneCard:DOLK, HGNC:HGNC:23406, HumanCyc Gene:HS10905, ModBase:Q9UPQ8, NCBI Gene:22845, OMIM:610746, OMIM:610768, RefSeq DNA:NG_017009, RefSeq DNA:NT_008470, RefSeq Protein:NP_055723, RefSeq RNA:NM_014908, UniProtKB:Q9UPQ8 No chr9 131707809 131710012 128945530 128947733 +PA134937229 57171 HGNC:29565 ENSG00000167130 dolichyldiphosphatase 1 DOLPP1 dolichyl pyrophosphate phosphatase 1, linked to Surfeit genes in Fugu rubripes 2 LSFR2 Yes No Comparative Toxicogenomics Database:57171, Ensembl:ENSG00000167130, GeneCard:DOLPP1, HGNC:HGNC:29565, ModBase:Q86YN1, NCBI Gene:57171, RefSeq DNA:NT_008470, RefSeq Protein:NP_001129389, RefSeq Protein:NP_065171, RefSeq RNA:NM_001135917, RefSeq RNA:NM_020438, UniProtKB:B0QZG4, UniProtKB:Q86YN1 No chr9 131843383 131852717 129081104 129090438 +PA27459 29980 HGNC:2993 ENSG00000159147 DNA replication fork stabilization factor DONSON DONSON downstream neighbor of SON B17, C21orf60, C2TA, DKFZP434M035 Yes No Ensembl:ENSG00000159147, GenAtlas:DONSON, GeneCard:DONSON, HGNC:HGNC:2993, HumanCyc Gene:HS08360, ModBase:Q9NYP3, NCBI Gene:29980, OMIM:611428, RefSeq DNA:NT_011512, RefSeq Protein:NP_060083, RefSeq RNA:NM_017613, UCSC Genome Browser:NM_017613, UniProtKB:Q9NYP3 No chr21 34937165 34961019 33577551 33588708 +PA134924787 23033 HGNC:21194 ENSG00000083097 DOP1 leucine zipper like protein A DOP1A dopey family member 1 DOPEY1, KIAA1117, dJ202D23.2 Yes No Ensembl:ENSG00000083097, GeneCard:DOPEY1, HGNC:HGNC:21194, HumanCyc Gene:HS12275, ModBase:Q5JWR5, NCBI Gene:23033, RefSeq DNA:NT_007299, RefSeq Protein:NP_001186871, RefSeq Protein:NP_055833, RefSeq RNA:NM_001199942, RefSeq RNA:NM_015018, UniProtKB:Q5JWR5 No chr6 83777385 83881069 83067650 83171351 +PA25845 9980 HGNC:1291 ENSG00000142197 DOP1 leucine zipper like protein B DOP1B dopey family member 2 C21orf5, DOPEY2, KIAA0933 Yes Yes Ensembl:ENSG00000142197, GenAtlas:DOPEY2, GeneCard:DOPEY2, HGNC:HGNC:1291, HumanCyc Gene:HS06906, NCBI Gene:9980, OMIM:604803, RefSeq DNA:NT_011512, RefSeq Protein:NP_005119, RefSeq RNA:NM_005128, UCSC Genome Browser:NM_005128, UniProtKB:Q9Y3R5 No chr21 37529080 37666572 36156781 36294274 +PA134993717 84444 HGNC:24948 ENSG00000104885 DOT1 like histone lysine methyltransferase DOT1L """DOT1-like histone H3K79 methyltransferase"", ""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"", ""histone methyltransferase DOT1L""" DOT1, KIAA1814, KMT4 Yes Yes Comparative Toxicogenomics Database:84444, Ensembl:ENSG00000104885, GeneCard:DOT1L, HGNC:HGNC:24948, HumanCyc Gene:HS02643, ModBase:Q8TEK3, NCBI Gene:84444, OMIM:607375, RefSeq DNA:NT_011255, RefSeq Protein:NP_115871, RefSeq RNA:NM_032482, UniProtKB:Q8TEK3 No chr19 2164148 2232577 2163963 2232578 +PA27460 1798 HGNC:2995 ENSG00000172269 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 DPAGT1 GlcNAc-1-P transferase 1, UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1, dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) ALG7, CDG-Ij, D11S366, DGPT, DPAGT, DPAGT2, GPT Yes No Comparative Toxicogenomics Database:1798, Ensembl:ENSG00000172269, GenAtlas:DPAGT1, GeneCard:DPAGT1, HGNC:HGNC:2995, HumanCyc Gene:HS10481, ModBase:Q9H3H5, NCBI Gene:1798, OMIM:191350, OMIM:608093, RefSeq DNA:NG_008918, RefSeq DNA:NT_033899, RefSeq Protein:NP_001373, RefSeq RNA:NM_001382, UCSC Genome Browser:NM_001382, UniProtKB:Q9H3H5 No chr11 118967213 118973124 119096503 119102414 +PA165548502 25911 HGNC:24542 ENSG00000166171 deleted in primary ciliary dyskinesia homolog (mouse) DPCD DKFZP566F084, RP11-529I10.4 Yes No Ensembl:ENSG00000166171, GeneCard:DPCD, HGNC:HGNC:24542, NCBI Gene:25911, RefSeq DNA:NT_030059, RefSeq Protein:NP_056263, RefSeq RNA:NM_015448, UniProtKB:Q9BVM2 No chr10 103330399 103369410 101588332 101609653 +PA144 1800 HGNC:3002 ENSG00000015413 dipeptidase 1 DPEP1 dipeptidase 1 (renal) Yes No Comparative Toxicogenomics Database:1800, Ensembl:ENSG00000015413, GenAtlas:DPEP1, GeneCard:DPEP1, HGNC:HGNC:3002, HumanCyc Gene:HS00367, HumanCyc Gene:HS10761, ModBase:P16444, NCBI Gene:1800, OMIM:179780, RefSeq DNA:NT_010542, RefSeq Protein:NP_001121613, RefSeq Protein:NP_004404, RefSeq RNA:NM_001128141, RefSeq RNA:NM_004413, UCSC Genome Browser:NM_004413, UniProtKB:P16444 No chr16 89679716 89707216 89613308 89641540 +PA134985997 64174 HGNC:23028 ENSG00000167261 dipeptidase 2 DPEP2 Yes No Ensembl:ENSG00000167261, GeneCard:DPEP2, HGNC:HGNC:23028, HumanCyc Gene:HS09532, ModBase:Q9H4A9, NCBI Gene:64174, OMIM:609925, RefSeq DNA:NT_010498, RefSeq Protein:NP_071750, RefSeq RNA:NM_022355, UniProtKB:Q9H4A9 No chr16 68021293 68034493 67987390 68000635 +PA166180604 100131303 HGNC:52385 ENSG00000263201 DPEP2 neighbor DPEP2NB Yes No Ensembl:ENSG00000263201, HGNC:HGNC:52385, NCBI Gene:100131303 No 0 0 0 0 +PA134978786 64180 HGNC:23029 ENSG00000141096 dipeptidase 3 DPEP3 Yes No Ensembl:ENSG00000141096, GeneCard:DPEP3, HGNC:HGNC:23029, HumanCyc Gene:HS06799, ModBase:Q9H4B8, NCBI Gene:64180, OMIM:609926, RefSeq DNA:NT_010498, RefSeq Protein:NP_001123230, RefSeq Protein:NP_071752, RefSeq RNA:NM_001129758, RefSeq RNA:NM_022357, UniProtKB:Q9H4B8 No chr16 68009566 68014452 67975663 67980549 +PA134879894 8193 HGNC:20225 ENSG00000011332 double PHD fingers 1 DPF1 D4, zinc and double PHD fingers family 1 BAF45b, NEUD4, SMARCG1, neuro-d4 Yes No Comparative Toxicogenomics Database:8193, Ensembl:ENSG00000011332, GeneCard:DPF1, HGNC:HGNC:20225, ModBase:Q92782, NCBI Gene:8193, OMIM:601670, RefSeq DNA:NT_011109, RefSeq Protein:NP_001128627, RefSeq Protein:NP_001128628, RefSeq Protein:NP_004638, RefSeq RNA:NM_001135155, RefSeq RNA:NM_001135156, RefSeq RNA:NM_004647, UniProtKB:B3KSY8, UniProtKB:Q08AJ0, UniProtKB:Q6PJ73, UniProtKB:Q92782 No chr19 38701649 38720317 38211006 38229714 +PA34331 5977 HGNC:9964 ENSG00000133884 double PHD fingers 2 DPF2 D4, zinc and double PHD fingers family 2 BAF45d, REQ, SMARCG2, ubi-d4 Yes No Ensembl:ENSG00000133884, GenAtlas:DPF2, GeneCard:DPF2, HGNC:HGNC:9964, HumanCyc Gene:HS05794, ModBase:Q92785, NCBI Gene:5977, OMIM:601671, RefSeq DNA:NT_167190, RefSeq Protein:NP_006259, RefSeq RNA:NM_006268, UCSC Genome Browser:NM_006268, UniProtKB:Q92785 No chr11 65101225 65120451 65333754 65352980 +PA134888535 8110 HGNC:17427 ENSG00000205683 double PHD fingers 3 DPF3 D4, zinc and double PHD fingers, family 3 BAF45c, Cerd4, FLJ14079, SMARCG3, cer-d4 Yes No Ensembl:ENSG00000205683, GeneCard:DPF3, HGNC:HGNC:17427, HumanCyc Gene:HS00312, ModBase:Q92784, NCBI Gene:8110, OMIM:601672, RefSeq DNA:NT_026437, RefSeq Protein:NP_036206, RefSeq RNA:NM_012074, UniProtKB:Q92784 No chr14 73085561 73360824 72609032 72894116 +PA27461 1801 HGNC:3003 ENSG00000108963 diphthamide biosynthesis 1 DPH1 ovarian tumor suppressor candidate 1 DPH2L, DPH2L1, OVCA1 Yes No Ensembl:ENSG00000108963, GenAtlas:DPH1, GeneCard:DPH1, HGNC:HGNC:3003, HumanCyc Gene:HS03183, NCBI Gene:1801, OMIM:603527, RefSeq DNA:NT_010718, RefSeq Protein:NP_001374, RefSeq RNA:NM_001383, UCSC Genome Browser:NM_001383, UniProtKB:B3KQW7, UniProtKB:Q9BZG8 No chr17 1933431 1947183 2030137 2043431 +PA27462 1802 HGNC:3004 ENSG00000132768 diphthamide biosynthesis 2 DPH2 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2, DPH2 homolog, DPH2 homolog (S. cerevisiae) DPH2L2 Yes No Comparative Toxicogenomics Database:1802, Ensembl:ENSG00000132768, GenAtlas:DPH2, GeneCard:DPH2, HGNC:HGNC:3004, HumanCyc Gene:HS13443, ModBase:Q9BQC3, NCBI Gene:1802, OMIM:603456, RefSeq DNA:NT_032977, RefSeq Protein:NP_001034678, RefSeq Protein:NP_001375, RefSeq RNA:NM_001039589, RefSeq RNA:NM_001384, UCSC Genome Browser:NM_001384, UniProtKB:A8MVC9, UniProtKB:Q9BQC3 No chr1 44435653 44439043 43969979 43973371 +PA162384061 285381 HGNC:27717 ENSG00000154813 diphthamide biosynthesis 3 DPH3 """DPH3, KTI11 homolog (S. cerevisiae)"", ""DPH3A, KTI11 homolog A (S. cerevisiae)""" DELGIP, DELGIP1, DESR1, DPH3A, KTI11, MGC20197, ZCSL2 Yes No Ensembl:ENSG00000154813, GeneCard:DPH3, HGNC:HGNC:27717, ModBase:Q96FX2, NCBI Gene:285381, OMIM:608959, RefSeq DNA:NT_022517, RefSeq Protein:NP_001040899, RefSeq Protein:NP_996662, RefSeq RNA:NM_001047434, RefSeq RNA:NM_206831, UniProtKB:Q96FX2 No chr3 16298568 16306496 16257061 16264989 +PA25686 100132911 HGNC:16136 ENSG00000233838 DPH3, KTI11 homolog (S. cerevisiae) pseudogene 1 DPH3P1 Yes No Ensembl:ENSG00000233838, GenAtlas:ZCSL1, GeneCard:ZCSL1, HGNC:HGNC:16136, NCBI Gene:100132911, RefSeq DNA:NT_011333, RefSeq Protein:NP_542788, RefSeq RNA:NM_080750, RefSeq RNA:XR_039213, RefSeq RNA:XR_039224, RefSeq RNA:XR_039287, UCSC Genome Browser:NM_080750, UniProtKB:Q9H4G8 No chr20 61476476 61477543 62844566 62846191 +PA165756576 HGNC:38719 DPH3, KTI11 homolog (S. cerevisiae) pseudogene 2 DPH3P2 Yes No HGNC:HGNC:38719 No +PA142671956 51611 HGNC:24270 ENSG00000117543 diphthamide biosynthesis 5 DPH5 DPH5 homolog (S. cerevisiae), diphthine methyl ester synthase CGI-30 Yes No Ensembl:ENSG00000117543, GeneCard:DPH5, HGNC:HGNC:24270, HumanCyc Gene:HS04148, ModBase:Q9H2P9, NCBI Gene:51611, OMIM:611075, RefSeq DNA:NT_032977, RefSeq Protein:NP_001070862, RefSeq Protein:NP_001070863, RefSeq Protein:NP_057042, RefSeq RNA:NM_001077394, RefSeq RNA:NM_001077395, RefSeq RNA:NM_015958, UniProtKB:A8JZY6, UniProtKB:B3KWP1, UniProtKB:Q9H2P9 No chr1 101455179 101491365 100989623 101025806 +PA142672572 89978 HGNC:30543 ENSG00000134146 diphthamine biosynthesis 6 DPH6 ATP binding domain 4, diphthine--ammonia ligase ATPBD4, MGC14798 Yes No Ensembl:ENSG00000134146, GeneCard:ATPBD4, HGNC:HGNC:30543, HumanCyc Gene:HS13509, NCBI Gene:89978, RefSeq DNA:NT_010194, RefSeq Protein:NP_001135444, RefSeq Protein:NP_542381, RefSeq RNA:NM_001141972, RefSeq RNA:NM_080650, UniProtKB:B3KWG1, UniProtKB:Q7L8W6 No chr15 35657670 35838597 35217356 35546222 +PA134942088 92715 HGNC:25199 ENSG00000148399 diphthamide biosynthesis 7 DPH7 WD repeat domain 85 C9orf112, FLJ90634, RRT2, WDR85 Yes No Ensembl:ENSG00000148399, GeneCard:WDR85, HGNC:HGNC:25199, HumanCyc Gene:HS14242, ModBase:Q9BTV6, NCBI Gene:92715, OMIM:613210, RefSeq DNA:NT_024000, RefSeq Protein:NP_620133, RefSeq RNA:NM_138778, UniProtKB:Q9BTV6 No chr9 140449354 140473387 137554899 137578935 +PA27463 8813 HGNC:3005 ENSG00000000419 dolichyl-phosphate mannosyltransferase subunit 1, catalytic DPM1 """DPM synthase complex, catalytic subunit"", ""dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit""" CDGIE, MPDS Yes No Comparative Toxicogenomics Database:8813, Ensembl:ENSG00000000419, GenAtlas:DPM1, GeneCard:DPM1, HGNC:HGNC:3005, HumanCyc Gene:HS00065, ModBase:O60762, NCBI Gene:8813, OMIM:603503, OMIM:608799, RefSeq DNA:NG_008923, RefSeq DNA:NT_011362, RefSeq Protein:NP_003850, RefSeq RNA:NM_003859, UCSC Genome Browser:NM_003859, UniProtKB:O60762 No chr20 49551404 49575081 50934855 50958564 +PA27464 8818 HGNC:3006 ENSG00000136908 dolichyl-phosphate mannosyltransferase subunit 2, regulatory DPM2 """DPM synthase complex subunit"", ""dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit""" MGC111193, MGC21559 Yes No Comparative Toxicogenomics Database:8818, Ensembl:ENSG00000136908, GenAtlas:DPM2, GeneCard:DPM2, HGNC:HGNC:3006, HumanCyc Gene:HS00061, ModBase:O94777, NCBI Gene:8818, OMIM:603564, RefSeq DNA:NT_008470, RefSeq Protein:NP_003854, RefSeq RNA:NM_003863, UCSC Genome Browser:NM_003863, UniProtKB:O94777, UniProtKB:Q5XKK9 No chr9 130697374 130700763 127935095 127938484 +PA27465 54344 HGNC:3007 ENSG00000179085 dolichyl-phosphate mannosyltransferase subunit 3, regulatory DPM3 DPM synthase complex subunit, dolichyl-phosphate mannosyltransferase polypeptide 3, dolichyl-phosphate mannosyltransferase subunit 3 MGC125904, MGC125905, MGC34275 Yes No Comparative Toxicogenomics Database:54344, Ensembl:ENSG00000179085, GenAtlas:DPM3, GeneCard:DPM3, HGNC:HGNC:3007, HumanCyc Gene:HS11347, NCBI Gene:54344, OMIM:605951, OMIM:612937, RefSeq DNA:NG_012871, RefSeq DNA:NT_004487, RefSeq Protein:NP_061846, RefSeq Protein:NP_714963, RefSeq RNA:NM_018973, RefSeq RNA:NM_153741, UCSC Genome Browser:NM_018973, UniProtKB:Q5SR62, UniProtKB:Q86TM7, UniProtKB:Q9P2X0 No chr1 155112367 155112996 155139891 155140573 +PA134991647 57628 HGNC:20823 ENSG00000175497 dipeptidyl peptidase like 10 DPP10 dipeptidyl-peptidase 10 (non-functional) DPL2, DPPY, DPRP3 Yes No Ensembl:ENSG00000175497, GeneCard:DPP10, HGNC:HGNC:20823, HumanCyc Gene:HS10939, ModBase:Q8N608, NCBI Gene:57628, OMIM:608209, RefSeq DNA:NT_022135, RefSeq Protein:NP_001004360, RefSeq Protein:NP_001171505, RefSeq Protein:NP_001171507, RefSeq Protein:NP_001171508, RefSeq Protein:NP_065919, RefSeq RNA:NM_001004360, RefSeq RNA:NM_001178034, RefSeq RNA:NM_001178036, RefSeq RNA:NM_001178037, RefSeq RNA:NM_020868, UniProtKB:B2RCJ8, UniProtKB:B4DKB5, UniProtKB:Q0GLB7, UniProtKB:Q0GLB8, UniProtKB:Q0GLB9, UniProtKB:Q8N608 No chr2 115199899 116603328 114442358 115845752 +PA27466 10072 HGNC:3008 ENSG00000254986 dipeptidyl peptidase 3 DPP3 dipeptidyl-peptidase 3, enkephalinase B Yes No Comparative Toxicogenomics Database:10072, Ensembl:ENSG00000254986, GenAtlas:DPP3, GeneCard:DPP3, HGNC:HGNC:3008, HumanCyc Gene:HS10803, ModBase:Q9NY33, NCBI Gene:10072, OMIM:606818, RefSeq DNA:NT_167190, RefSeq Protein:NP_005691, RefSeq Protein:NP_569710, RefSeq RNA:NM_005700, RefSeq RNA:NM_130443, UCSC Genome Browser:NM_005700, UniProtKB:Q53GT4, UniProtKB:Q5JPB8, UniProtKB:Q9NY33 No chr11 66247484 66277130 66480013 66509659 +PA27467 1803 HGNC:3009 ENSG00000197635 dipeptidyl peptidase 4 DPP4 dipeptidyl-peptidase 4 ADCP2, CD26, DPPIV Yes Yes Comparative Toxicogenomics Database:1803, Ensembl:ENSG00000197635, GenAtlas:DPP4, GeneCard:DPP4, HGNC:HGNC:3009, HumanCyc Gene:HS09964, ModBase:P27487, NCBI Gene:1803, OMIM:102720, RefSeq DNA:NT_005403, RefSeq Protein:NP_001926, RefSeq RNA:NM_001935, UCSC Genome Browser:NM_001935, UniProtKB:P27487, UniProtKB:Q53TN1 No chr2 162848751 162931052 161992241 162074542 +PA27468 1804 HGNC:3010 ENSG00000130226 dipeptidyl peptidase like 6 DPP6 dipeptidyl-peptidase 6 DPL1, DPPX Yes Yes Comparative Toxicogenomics Database:1804, Ensembl:ENSG00000130226, GenAtlas:DPP6, GeneCard:DPP6, HGNC:HGNC:3010, HumanCyc Gene:HS05356, ModBase:P42658, NCBI Gene:1804, OMIM:126141, OMIM:612956, RefSeq DNA:NT_007741, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001034439, RefSeq Protein:NP_001927, RefSeq Protein:NP_570629, RefSeq RNA:NM_001039350, RefSeq RNA:NM_001936, RefSeq RNA:NM_130797, UCSC Genome Browser:NM_001936, UniProtKB:P42658 No chr7 +PA27469 29952 HGNC:14892 ENSG00000176978 dipeptidyl peptidase 7 DPP7 dipeptidyl-peptidase 7 DPP2, DPPII Yes No Ensembl:ENSG00000176978, GenAtlas:DPP7, GeneCard:DPP7, HGNC:HGNC:14892, HumanCyc Gene:HS11115, ModBase:Q9UHL4, NCBI Gene:29952, OMIM:610537, RefSeq DNA:NT_024000, RefSeq Protein:NP_037511, RefSeq RNA:NM_013379, UCSC Genome Browser:NM_013379, UniProtKB:Q9UHL4 No chr9 140004992 140009204 137110540 137117980 +PA27470 54878 HGNC:16490 ENSG00000074603 dipeptidyl peptidase 8 DPP8 dipeptidyl peptidase IV-related protein-1, dipeptidyl peptidase VIII, dipeptidyl-peptidase 8, prolyl dipeptidase DPP8 DP8, DPRP1, FLJ14920, FLJ20283, MGC26191, MSTP141 Yes No Comparative Toxicogenomics Database:54878, Ensembl:ENSG00000074603, GenAtlas:DPP8, GeneCard:DPP8, HGNC:HGNC:16490, HumanCyc Gene:HS01144, ModBase:Q9HBM3, NCBI Gene:54878, OMIM:606819, RefSeq DNA:NT_010194, RefSeq Protein:NP_060213, RefSeq Protein:NP_569118, RefSeq Protein:NP_932064, RefSeq Protein:NP_932065, RefSeq RNA:NM_017743, RefSeq RNA:NM_130434, RefSeq RNA:NM_197960, RefSeq RNA:NM_197961, UCSC Genome Browser:NM_017743, UniProtKB:Q6V1X1 No chr15 65734805 65810040 65442463 65517713 +PA38620 91039 HGNC:18648 ENSG00000142002 dipeptidyl peptidase 9 DPP9 dipeptidyl-peptidase 9 Yes No Ensembl:ENSG00000142002, GenAtlas:DPP9, GeneCard:DPP9, HGNC:HGNC:18648, HumanCyc Gene:HS06888, ModBase:Q8N3F5, NCBI Gene:91039, OMIM:608258, RefSeq DNA:NT_011255, RefSeq Protein:NP_631898, RefSeq RNA:NM_139159, UCSC Genome Browser:NM_139159, UniProtKB:Q1ZZB8, UniProtKB:Q86TI2 No chr19 4675239 4723855 4675226 4723843 +PA134944028 151871 HGNC:19197 ENSG00000163530 developmental pluripotency associated 2 DPPA2 cancer/testis antigen 100 CT100, PESCRG1 Yes No Ensembl:ENSG00000163530, GeneCard:DPPA2, HGNC:HGNC:19197, HumanCyc Gene:HS08873, NCBI Gene:151871, RefSeq DNA:NT_005612, RefSeq Protein:NP_620170, RefSeq RNA:NM_138815, UniProtKB:Q7Z7J5 No chr3 109012635 109035364 109293788 109316553 +PA134951641 359787 HGNC:19199 ENSG00000187569 developmental pluripotency associated 3 DPPA3 Pgc7, Stella Yes No Comparative Toxicogenomics Database:359787, Ensembl:ENSG00000187569, GeneCard:DPPA3, HGNC:HGNC:19199, NCBI Gene:359787, OMIM:608408, RefSeq DNA:NT_009714, RefSeq Protein:NP_954980, RefSeq RNA:NM_199286, UniProtKB:Q6W0C5 No chr12 7864089 7870155 7711454 7717559 +PA134958838 55211 HGNC:19200 ENSG00000121570 developmental pluripotency associated 4 DPPA4 FLJ10713 Yes No Ensembl:ENSG00000121570, GeneCard:DPPA4, HGNC:HGNC:19200, HumanCyc Gene:HS13023, NCBI Gene:55211, RefSeq DNA:NT_005612, RefSeq Protein:NP_060659, RefSeq RNA:NM_018189, UniProtKB:Q7L190 No chr3 109044988 109056419 109326141 109337572 +PA134964500 340168 HGNC:19201 ENSG00000203909 developmental pluripotency associated 5 DPPA5 Esg1 Yes No Comparative Toxicogenomics Database:340168, Ensembl:ENSG00000203909, GeneCard:DPPA5, HGNC:HGNC:19201, NCBI Gene:340168, OMIM:611111, RefSeq DNA:NT_007299, RefSeq Protein:NP_001020461, RefSeq RNA:NM_001025290, UniProtKB:A6NC42 No chr6 74062785 74063999 73353062 73354276 +PA142671957 503834 HGNC:32166 ENSG00000204595 divergent-paired related homeobox DPRX Yes No Ensembl:ENSG00000204595, GeneCard:DPRX, HGNC:HGNC:32166, ModBase:A6NFQ7, NCBI Gene:503834, OMIM:611165, RefSeq DNA:NT_011109, RefSeq Protein:NP_001012746, RefSeq RNA:NM_001012728, UniProtKB:A6NFQ7 No chr19 54135310 54140263 53601257 53637057 +PA142671958 503641 HGNC:32167 ENSG00000224323 divergent-paired related homeobox pseudogene 1 DPRXP1 Yes No Ensembl:ENSG00000224323, GeneCard:DPRXP1, HGNC:HGNC:32167, NCBI Gene:503641, RefSeq DNA:NG_004847, RefSeq DNA:NT_005403 No chr2 187353283 187353896 186488556 186489169 +PA142671959 503643 HGNC:32168 ENSG00000271304 divergent-paired related homeobox pseudogene 2 DPRXP2 Yes No Ensembl:ENSG00000271304, GeneCard:DPRXP2, HGNC:HGNC:32168, NCBI Gene:503643, RefSeq DNA:NG_004848, RefSeq DNA:NT_007592 No chr6 35957267 35958269 35989490 35990492 +PA142671960 503644 HGNC:32169 ENSG00000282308 divergent-paired related homeobox pseudogene 3 DPRXP3 Yes No Ensembl:ENSG00000282308, GeneCard:DPRXP3, HGNC:HGNC:32169, NCBI Gene:503644, RefSeq DNA:NG_004849, RefSeq DNA:NT_026437 No chr14 35691333 35691971 35222127 35222765 +PA142671961 503645 HGNC:32170 ENSG00000264743 divergent-paired related homeobox pseudogene 4 DPRXP4 Yes No Ensembl:ENSG00000264743, GeneCard:DPRXP4, HGNC:HGNC:32170, NCBI Gene:503645, RefSeq DNA:NT_010799, RefSeq RNA:NR_002221 No chr17 29302353 29303022 30975335 30976004 +PA142671962 503646 HGNC:32171 ENSG00000270652 divergent-paired related homeobox pseudogene 5 DPRXP5 Yes No Ensembl:ENSG00000270652, GeneCard:DPRXP5, HGNC:HGNC:32171, NCBI Gene:503646, RefSeq DNA:NG_004850, RefSeq DNA:NT_011512 No chr21 38315460 38316554 36943160 36944254 +PA142671944 503647 HGNC:32172 ENSG00000270791 divergent-paired related homeobox pseudogene 6 DPRXP6 Yes No Ensembl:ENSG00000270791, GeneCard:DPRXP6, HGNC:HGNC:32172, NCBI Gene:503647, RefSeq DNA:NG_004851, RefSeq DNA:NT_079573 No chrX 40617684 40618342 40758431 40759089 +PA142671945 503648 HGNC:32173 ENSG00000271464 divergent-paired related homeobox pseudogene 7 DPRXP7 Yes No Ensembl:ENSG00000271464, GeneCard:DPRXP7, HGNC:HGNC:32173, NCBI Gene:503648, RefSeq DNA:NG_004852, RefSeq DNA:NT_011651 No chrX 111563096 111563749 112319868 112320521 +PA27471 1805 HGNC:3011 ENSG00000143196 dermatopontin DPT Yes Yes Comparative Toxicogenomics Database:1805, Ensembl:ENSG00000143196, GenAtlas:DPT, GeneCard:DPT, HGNC:HGNC:3011, HumanCyc Gene:HS07008, NCBI Gene:1805, OMIM:125597, RefSeq DNA:NT_004487, RefSeq Protein:NP_001928, RefSeq RNA:NM_001937, UCSC Genome Browser:NM_001937, UniProtKB:Q07507 No chr1 168664695 168698442 168695457 168729204 +PA142671946 23333 HGNC:22205 ENSG00000173852 dpy-19 like C-mannosyltransferase 1 DPY19L1 dpy-19-like 1 (C. elegans) KIAA0877 Yes No Comparative Toxicogenomics Database:23333, Ensembl:ENSG00000173852, GeneCard:DPY19L1, HGNC:HGNC:22205, ModBase:Q2PZI1, NCBI Gene:23333, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_056098, RefSeq RNA:NM_015283, UniProtKB:Q2PZI1 No chr7 34968491 35077653 34928881 35038041 +PA142671947 100129460 HGNC:22395 ENSG00000229358 dpy-19-like 1 pseudogene 1 (C. elegans) DPY19L1P1 Yes No Ensembl:ENSG00000229358, GeneCard:DPY19L1P1, HGNC:HGNC:22395, NCBI Gene:100129460, RefSeq DNA:NG_008293, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_036680 No chr7 32620551 32758780 32580939 32719168 +PA142671948 102724668 HGNC:22851 ENSG00000231952 dpy-19-like 1 pseudogene 2 (C. elegans) DPY19L1P2 THC1072510 Yes No Ensembl:ENSG00000231952, GeneCard:DPY19L1P2, HGNC:HGNC:22851, NCBI Gene:102724668 No chr7 +PA142671949 283417 HGNC:19414 ENSG00000177990 dpy-19 like 2 DPY19L2 dpy-19-like 2 (C. elegans), spermatogenesis associated 34 FLJ32949, SPATA34 Yes No Ensembl:ENSG00000177990, GeneCard:DPY19L2, HGNC:HGNC:19414, HumanCyc Gene:HS16961, ModBase:Q6NUT2, NCBI Gene:283417, RefSeq DNA:NT_029419, RefSeq DNA:NT_079592, RefSeq Protein:NP_776173, RefSeq RNA:NM_173812, UniProtKB:Q6NUT2 No chr12 63952693 64062354 63558913 63669201 +PA142671950 554236 HGNC:22305 ENSG00000189212 dpy-19-like 2 pseudogene 1 (C. elegans) DPY19L2P1 Yes No Ensembl:ENSG00000189212, GeneCard:DPY19L2P1, HGNC:HGNC:22305, NCBI Gene:554236, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_002833 No chr7 35120899 35225774 35081287 35186162 +PA142671951 349152 HGNC:21764 ENSG00000170629 dpy-19-like 2 pseudogene 2 (C. elegans) DPY19L2P2 DKFZp434E092, FLJ36166 Yes No Ensembl:ENSG00000170629, GeneCard:DPY19L2P2, HGNC:HGNC:21764, NCBI Gene:349152, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_003561, RefSeq RNA:NR_027768 No chr7 102815460 102920913 103175013 103280466 +PA142671952 442524 HGNC:22367 ENSG00000227855 dpy-19-like 2 pseudogene 3 (C. elegans) DPY19L2P3 Yes No Ensembl:ENSG00000227855, GeneCard:DPY19L2P3, HGNC:HGNC:22367, NCBI Gene:442524, RefSeq DNA:NG_005216, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_036482, RefSeq RNA:NR_036554 No chr7 29724770 29727859 29685154 29688243 +PA142671953 442523 HGNC:22176 ENSG00000235436 dpy-19-like 2 pseudogene 4 (C. elegans) DPY19L2P4 IMAGE:5295327 Yes No Ensembl:ENSG00000235436, GeneCard:DPY19L2P4, HGNC:HGNC:22176, NCBI Gene:442523, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_003551 No chr7 89748714 89754914 90119400 90125600 +PA142671954 147991 HGNC:27120 ENSG00000178904 dpy-19 like C-mannosyltransferase 3 DPY19L3 dpy-19-like 3 (C. elegans) Yes No Ensembl:ENSG00000178904, GeneCard:DPY19L3, HGNC:HGNC:27120, ModBase:Q6ZPD9, NCBI Gene:147991, RefSeq DNA:NT_011109, RefSeq Protein:NP_001166245, RefSeq Protein:NP_997208, RefSeq RNA:NM_001172774, RefSeq RNA:NM_207325, UniProtKB:Q6ZPD9 No chr19 32896655 32976799 32405749 32485893 +PA142671955 286148 HGNC:27829 ENSG00000156162 dpy-19 like 4 DPY19L4 dpy-19-like 4 (C. elegans) Yes No Ensembl:ENSG00000156162, GeneCard:DPY19L4, HGNC:HGNC:27829, NCBI Gene:286148, RefSeq DNA:NT_008046, RefSeq Protein:NP_861452, RefSeq RNA:NM_181787, UniProtKB:Q7Z388 No chr8 95732103 95806076 94719708 94793848 +PA162384063 84661 HGNC:24590 ENSG00000162961 dpy-30 histone methyltransferase complex regulatory subunit DPY30 """dpy-30 homolog (C. elegans)"", ""dpy-30, histone methyltransferase complex regulatory subunit""" Cps25, HDPY-30, Saf19 Yes No Ensembl:ENSG00000162961, GeneCard:DPY30, HGNC:HGNC:24590, HumanCyc Gene:HS08765, NCBI Gene:84661, OMIM:612032, RefSeq DNA:NT_022184, RefSeq Protein:NP_115963, RefSeq RNA:NM_032574, UniProtKB:Q9C005 No chr2 32245856 32264890 32011649 32039840 +PA145 1806 HGNC:3012 ENSG00000188641 dihydropyrimidine dehydrogenase DPYD Dihydrothymine dehydrogenase, Dihydrouracil dehydrogenase DHPDHase, DPD Yes Yes Comparative Toxicogenomics Database:1806, Ensembl:ENSG00000188641, GenAtlas:DPYD, GeneCard:DPYD, HGNC:HGNC:3012, HumanCyc Gene:HS06975, ModBase:Q12882, NCBI Gene:1806, OMIM:274270, OMIM:612779, PharmVar Gene:DPYD, RefSeq DNA:NG_008807, RefSeq DNA:NT_032977, RefSeq Protein:NP_000101, RefSeq Protein:NP_001153773, RefSeq RNA:NM_000110, RefSeq RNA:NM_001160301, UCSC Genome Browser:NM_000110, UniProtKB:Q12882, UniProtKB:Q96HL6 Yes chr1 97543299 98386615 97077743 97921059 +PA146 1807 HGNC:3013 ENSG00000147647 dihydropyrimidinase DPYS DHPase Yes Yes Comparative Toxicogenomics Database:1807, Ensembl:ENSG00000147647, GenAtlas:DPYS, GeneCard:DPYS, HGNC:HGNC:3013, HumanCyc Gene:HS07460, ModBase:Q14117, NCBI Gene:1807, OMIM:222748, OMIM:613326, RefSeq DNA:NG_008840, RefSeq DNA:NT_008046, RefSeq Protein:NP_001376, RefSeq RNA:NM_001385, UCSC Genome Browser:NM_001385, UniProtKB:Q14117 No chr8 105391652 105479281 104379424 104467075 +PA27472 1808 HGNC:3014 ENSG00000092964 dihydropyrimidinase like 2 DPYSL2 dihydropyrimidinase-like 2 CRMP2, DHPRP2, DRP-2, DRP2 Yes No Comparative Toxicogenomics Database:1808, Ensembl:ENSG00000092964, GenAtlas:DPYSL2, GeneCard:DPYSL2, HGNC:HGNC:3014, HumanCyc Gene:HS01785, ModBase:Q16555, NCBI Gene:1808, OMIM:602463, RefSeq DNA:NT_167187, RefSeq Protein:NP_001184222, RefSeq Protein:NP_001377, RefSeq RNA:NM_001197293, RefSeq RNA:NM_001386, UCSC Genome Browser:NM_001386, UniProtKB:Q16555 No chr8 26371709 26515693 26514193 26658177 +PA27473 1809 HGNC:3015 ENSG00000113657 dihydropyrimidinase like 3 DPYSL3 dihydropyrimidinase-like 3 CRMP4, DRP-3, ULIP Yes No Comparative Toxicogenomics Database:1809, Ensembl:ENSG00000113657, GenAtlas:DPYSL3, GeneCard:DPYSL3, HGNC:HGNC:3015, HumanCyc Gene:HS03707, ModBase:Q14195, NCBI Gene:1809, OMIM:601168, RefSeq DNA:NT_029289, RefSeq Protein:NP_001184223, RefSeq Protein:NP_001378, RefSeq RNA:NM_001197294, RefSeq RNA:NM_001387, UCSC Genome Browser:NM_001387, UniProtKB:Q14195, UniProtKB:Q8IXW6 No chr5 146770371 146889619 147390808 147510056 +PA27474 10570 HGNC:3016 ENSG00000151640 dihydropyrimidinase like 4 DPYSL4 dihydropyrimidinase-like 4 CRMP3, DRP-4, ULIP4 Yes No Comparative Toxicogenomics Database:10570, Ensembl:ENSG00000151640, GenAtlas:DPYSL4, GeneCard:DPYSL4, HGNC:HGNC:3016, HumanCyc Gene:HS07755, ModBase:O14531, NCBI Gene:10570, OMIM:608407, RefSeq DNA:NT_008818, RefSeq Protein:NP_006417, RefSeq RNA:NM_006426, UCSC Genome Browser:NM_006426, UniProtKB:O14531 No chr10 133998564 134019280 132184983 132205776 +PA134927413 56896 HGNC:20637 ENSG00000157851 dihydropyrimidinase like 5 DPYSL5 collapsin response mediator protein 5, dihydropyrimidinase-like 5 CRAM, CRMP-5, CRMP5, CV2, Ulip6 Yes No Ensembl:ENSG00000157851, GeneCard:DPYSL5, HGNC:HGNC:20637, HumanCyc Gene:HS08246, ModBase:Q9BPU6, NCBI Gene:56896, OMIM:608383, RefSeq DNA:NT_022184, RefSeq Protein:NP_064519, RefSeq RNA:NM_020134, UniProtKB:Q9BPU6 No chr2 27070969 27173219 26848101 26950351 +PA134916600 165545 HGNC:20410 ENSG00000144045 DEAQ-box RNA dependent ATPase 1 DQX1 DEAQ box RNA-dependent ATPase 1 FLJ23757 Yes No Comparative Toxicogenomics Database:165545, Ensembl:ENSG00000144045, GeneCard:DQX1, HGNC:HGNC:20410, HumanCyc Gene:HS07142, NCBI Gene:165545, RefSeq DNA:NT_022184, RefSeq Protein:NP_598376, RefSeq RNA:NM_133637, UniProtKB:Q8TE96 No chr2 74745258 74753408 74518131 74526281 +PA27475 1810 HGNC:3017 ENSG00000117505 down-regulator of transcription 1 DR1 """down-regulator of transcription 1, TBP-binding (negative cofactor 2)"", ""negative cofactor 2"", ""negative cofactor 2 beta""" NC2, NC2-BETA, NC2B, NCB2 Yes No Comparative Toxicogenomics Database:1810, Ensembl:ENSG00000117505, GenAtlas:DR1, GeneCard:DR1, HGNC:HGNC:3017, HumanCyc Gene:HS04142, ModBase:Q01658, NCBI Gene:1810, OMIM:601482, RefSeq DNA:NT_032977, RefSeq Protein:NP_001929, RefSeq RNA:NM_001938, UCSC Genome Browser:NM_001938, UniProtKB:Q01658, UniProtKB:Q658N3 No chr1 93811478 93828149 93345921 93362592 +PA165512564 55332 HGNC:25645 ENSG00000136048 DNA damage regulated autophagy modulator 1 DRAM1 DNA-damage regulated autophagy modulator 1, damage-regulated autophagy modulator DRAM, FLJ11259 Yes No Ensembl:ENSG00000136048, GeneCard:DRAM1, HGNC:HGNC:25645, NCBI Gene:55332, OMIM:610776, RefSeq DNA:NT_019546, RefSeq DNA:NT_029419, RefSeq Protein:NP_060840, RefSeq RNA:NM_018370, UCSC Genome Browser:NM_018370, UniProtKB:Q8N682 No chr12 102271105 102317401 101877327 101923623 +PA165751270 128338 HGNC:28769 ENSG00000156171 DNA damage regulated autophagy modulator 2 DRAM2 DNA-damage regulated autophagy modulator 2 MGC54289, PRO180, RP5-1180E21.1, TMEM77, WWFQ154 Yes No Comparative Toxicogenomics Database:128338, Ensembl:ENSG00000156171, GeneCard:DRAM2, HGNC:HGNC:28769, NCBI Gene:128338, OMIM:613360, RefSeq DNA:NT_019273, RefSeq DNA:NT_032977, RefSeq Protein:NP_848549, RefSeq RNA:NM_178454, UniProtKB:Q6UX65 No chr1 111659954 111682838 111117332 111140216 +PA27476 10589 HGNC:3019 ENSG00000175550 DR1 associated protein 1 DRAP1 DR1-associated corepressor, DR1-associated protein 1 (negative cofactor 2 alpha), negative cofactor 2 alpha NC2-alpha Yes No Comparative Toxicogenomics Database:10589, Ensembl:ENSG00000175550, GenAtlas:DRAP1, GeneCard:DRAP1, HGNC:HGNC:3019, HumanCyc Gene:HS10950, ModBase:Q14919, NCBI Gene:10589, OMIM:602289, RefSeq DNA:NT_167190, RefSeq Protein:NP_006433, RefSeq RNA:NM_006442, UCSC Genome Browser:NM_006442, UniProtKB:Q14919 No chr11 65686728 65689048 65919257 65921577 +PA142672435 374946 HGNC:25054 ENSG00000162490 dorsal inhibitory axon guidance protein DRAXIN dorsal repulsive axon guidance protein, neural tissue-specific cysteine-rich protein C1orf187, Draxin, FLJ34999, Neucrin Yes No Ensembl:ENSG00000162490, GeneCard:C1orf187, HGNC:HGNC:25054, ModBase:Q8NBI3, NCBI Gene:374946, OMIM:612682, RefSeq DNA:NT_021937, RefSeq Protein:NP_940947, RefSeq RNA:NM_198545, UniProtKB:Q8NBI3 No chr1 11751781 11780336 11686635 11721766 +PA145149775 92749 HGNC:24245 ENSG00000157856 dynein regulatory complex subunit 1 DRC1 dynein regulatory complex subunit 1 homolog (Chlamydomonas) C2orf39, CCDC164, CILD21, FLJ32660, MGC16372 Yes No Ensembl:ENSG00000157856, GeneCard:C2orf39, HGNC:HGNC:24245, HumanCyc Gene:HS14680, NCBI Gene:92749, RefSeq DNA:NT_022184, RefSeq Protein:NP_659475, RefSeq RNA:NM_145038, UniProtKB:Q96MC2 No chr2 26624784 26679579 26401912 26456713 +PA162381639 283152 HGNC:27446 ENSG00000248712 dynein regulatory complex subunit 12 homolog DRC12 coiled-coil domain containing 153 CCDC153, LOC283152 Yes No Ensembl:ENSG00000248712, GeneCard:CCDC153, HGNC:HGNC:27446, NCBI Gene:283152, RefSeq DNA:NT_033899, RefSeq Protein:NP_001138490, RefSeq Protein:XP_002347306, RefSeq RNA:NM_001145018, RefSeq RNA:XM_002347265, UniProtKB:Q494R4 No chr11 119060963 119072160 119190254 119206232 +PA142671508 83450 HGNC:25384 ENSG00000171962 dynein regulatory complex subunit 3 DRC3 leucine rich repeat containing 48 CFAP134, DKFZP586M1120, LRRC48 Yes No Ensembl:ENSG00000171962, GeneCard:LRRC48, HGNC:HGNC:25384, HumanCyc Gene:HS16044, ModBase:Q9H069, NCBI Gene:83450, RefSeq DNA:NT_010718, RefSeq Protein:NP_001123562, RefSeq Protein:NP_001123563, RefSeq Protein:NP_001123564, RefSeq Protein:NP_112584, RefSeq RNA:NM_001130090, RefSeq RNA:NM_001130091, RefSeq RNA:NM_001130092, RefSeq RNA:NM_031294, UniProtKB:B3KSC6, UniProtKB:Q9H069 No chr17 17876127 17920203 17972766 18016889 +PA162381380 84229 HGNC:25289 ENSG00000159625 dynein regulatory complex subunit 7 DRC7 coiled-coil domain containing 135 C16orf50, CCDC135, CFAP50, DKFZp434I099, FAP50 Yes No Ensembl:ENSG00000159625, GeneCard:CCDC135, HGNC:HGNC:25289, HumanCyc Gene:HS14769, ModBase:Q8IY82, NCBI Gene:84229, RefSeq DNA:NT_010498, RefSeq Protein:NP_115645, RefSeq RNA:NM_032269, UniProtKB:Q8IY82 No chr16 57728713 57765367 57694801 57731455 +PA147 1812 HGNC:3020 ENSG00000184845 dopamine receptor D1 DRD1 dopamine D1 receptor D1R Yes Yes Comparative Toxicogenomics Database:1812, Ensembl:ENSG00000184845, GenAtlas:DRD1, GeneCard:DRD1, HGNC:HGNC:3020, IUPHAR Receptor:214, ModBase:P21728, NCBI Gene:1812, OMIM:126449, RefSeq DNA:NG_011802, RefSeq DNA:NT_023133, RefSeq Protein:NP_000785, RefSeq RNA:NM_000794, UCSC Genome Browser:NM_000794, UniProtKB:P21728 No chr5 174867675 174871163 175440672 175444160 +PA27478 1813 HGNC:3023 ENSG00000149295 dopamine receptor D2 DRD2 dopamine D2 receptor D2R Yes Yes Comparative Toxicogenomics Database:1813, Ensembl:ENSG00000149295, GenAtlas:DRD2, GeneCard:DRD2, HGNC:HGNC:3023, HumanCyc Gene:HS07602, IUPHAR Receptor:215, ModBase:P14416, NCBI Gene:1813, OMIM:126450, OMIM:159900, RefSeq DNA:NG_008841, RefSeq DNA:NT_033899, RefSeq Protein:NP_000786, RefSeq Protein:NP_057658, RefSeq RNA:NM_000795, RefSeq RNA:NM_016574, UCSC Genome Browser:NM_000795, UniProtKB:P14416 No chr11 113280317 113346413 113409595 113475279 +PA27479 1814 HGNC:3024 ENSG00000151577 dopamine receptor D3 DRD3 ETM1 Yes Yes Comparative Toxicogenomics Database:1814, Ensembl:ENSG00000151577, GenAtlas:DRD3, GeneCard:DRD3, HGNC:HGNC:3024, HumanCyc Gene:HS07748, IUPHAR Receptor:216, ModBase:P35462, NCBI Gene:1814, OMIM:126451, OMIM:181500, OMIM:190300, RefSeq DNA:NG_008842, RefSeq DNA:NT_005612, RefSeq Protein:NP_000787, RefSeq Protein:NP_387512, RefSeq RNA:NM_000796, RefSeq RNA:NM_033663, UCSC Genome Browser:NM_000796, UniProtKB:P35462 No chr3 113847499 113918254 114127623 114199407 +PA27480 1815 HGNC:3025 ENSG00000069696 dopamine receptor D4 DRD4 Yes Yes Comparative Toxicogenomics Database:1815, Ensembl:ENSG00000069696, GenAtlas:DRD4, GeneCard:DRD4, HGNC:HGNC:3025, HumanCyc Gene:HS00968, IUPHAR Receptor:217, ModBase:P21917, NCBI Gene:1815, OMIM:126452, OMIM:143465, OMIM:168600, OMIM:601696, RefSeq DNA:NG_021241, RefSeq DNA:NT_009237, RefSeq Protein:NP_000788, RefSeq RNA:NM_000797, UCSC Genome Browser:NM_000797, UniProtKB:P21917 No chr11 637305 640706 637305 640706 +PA148 1816 HGNC:3026 ENSG00000169676 dopamine receptor D5 DRD5 DRD1B, DRD1L2 Yes No Comparative Toxicogenomics Database:1816, Ensembl:ENSG00000169676, GenAtlas:DRD5, GeneCard:DRD5, HGNC:HGNC:3026, HumanCyc Gene:HS09985, IUPHAR Receptor:218, ModBase:P21918, NCBI Gene:1816, OMIM:126453, OMIM:143465, OMIM:606798, RefSeq DNA:NG_012024, RefSeq DNA:NT_006316, RefSeq Protein:NP_000789, RefSeq RNA:NM_000798, UCSC Genome Browser:NM_000798, UniProtKB:P21918 No chr4 9783258 9785633 9781634 9784009 +PA27481 1817 HGNC:3027 ENSG00000184303 dopamine receptor D5 pseudogene 1 DRD5P1 Yes No Ensembl:ENSG00000184303, GenAtlas:DRD5P1, GeneCard:DRD5P1, HGNC:HGNC:3027, NCBI Gene:1817, RefSeq DNA:NG_005112, RefSeq DNA:NT_034508 No chr2 91871911 91874257 91683885 91686278 +PA27482 1818 HGNC:3028 ENSG00000175658 dopamine receptor D5 pseudogene 2 DRD5P2 Yes No Ensembl:ENSG00000175658, GenAtlas:DRD5P2, GeneCard:DRD5P2, HGNC:HGNC:3028, NCBI Gene:1818, RefSeq DNA:NG_005113, RefSeq DNA:NT_004487 No chr1 148901946 148904339 144689614 144691842 +PA27483 4733 HGNC:3029 ENSG00000185721 developmentally regulated GTP binding protein 1 DRG1 NEDD3 Yes No Comparative Toxicogenomics Database:4733, Ensembl:ENSG00000185721, GenAtlas:DRG1, GeneCard:DRG1, HGNC:HGNC:3029, ModBase:Q9Y295, NCBI Gene:4733, OMIM:603952, RefSeq DNA:NT_011520, RefSeq Protein:NP_004138, RefSeq RNA:NM_004147, UCSC Genome Browser:NM_004147, UniProtKB:Q9Y295 No chr22 31795539 31830172 31399553 31434186 +PA27484 1819 HGNC:3030 ENSG00000108591 developmentally regulated GTP binding protein 2 DRG2 Yes No Comparative Toxicogenomics Database:1819, Ensembl:ENSG00000108591, GenAtlas:DRG2, GeneCard:DRG2, HGNC:HGNC:3030, HumanCyc Gene:HS03130, ModBase:P55039, NCBI Gene:1819, OMIM:602986, RefSeq DNA:NT_010718, RefSeq Protein:NP_001379, RefSeq RNA:NM_001388, UCSC Genome Browser:NM_001388, UniProtKB:P55039 No chr17 17991181 18011299 18087867 18107985 +PA162384078 644168 HGNC:21536 ENSG00000165606 dorsal root ganglia homeobox DRGX paired-like homeodomain trancription factor DRG11 DRG11, PRRXL1 Yes No Ensembl:ENSG00000165606, GeneCard:DRGX, HGNC:HGNC:21536, ModBase:A6NNA5, NCBI Gene:644168, OMIM:606701, RefSeq DNA:NT_030059, RefSeq Protein:NP_001073989, RefSeq RNA:NM_001080520, UniProtKB:C9JW76 No chr10 50574161 50604062 49364085 49396016 +PA164717092 51233 HGNC:28031 ENSG00000189269 aspartate rich 1 DRICH1 aspartate-rich 1, chromosome 22 open reading frame 43 C22orf43 Yes No Ensembl:ENSG00000189269, GeneCard:C22orf43, HGNC:HGNC:28031, NCBI Gene:51233, RefSeq DNA:NT_011520, RefSeq Protein:NP_057533, RefSeq RNA:NM_016449, UniProtKB:Q6PGQ1 No chr22 23950639 23974508 23580872 23637732 +PA142671060 29102 HGNC:17904 ENSG00000113360 drosha ribonuclease III DROSHA """drosha, double-stranded RNA-specific endoribonuclease"", ""drosha, ribonuclease type III""" Etohi2, HSA242976, RN3, RNASE3L, RNASEN Yes Yes Comparative Toxicogenomics Database:29102, Ensembl:ENSG00000113360, GeneCard:RNASEN, HGNC:HGNC:17904, HumanCyc Gene:HS03674, ModBase:Q9NRR4, NCBI Gene:29102, OMIM:608828, RefSeq DNA:NT_006576, RefSeq Protein:NP_001093882, RefSeq Protein:NP_037367, RefSeq RNA:NM_001100412, RefSeq RNA:NM_013235, UniProtKB:Q9NRR4 No chr5 31400601 31532282 31400494 31532175 +PA27486 1821 HGNC:3032 ENSG00000102385 dystrophin related protein 2 DRP2 Yes No Ensembl:ENSG00000102385, GenAtlas:DRP2, GeneCard:DRP2, HGNC:HGNC:3032, HumanCyc Gene:HS02388, ModBase:Q13474, NCBI Gene:1821, OMIM:300052, RefSeq DNA:NG_016403, RefSeq DNA:NT_011651, RefSeq Protein:NP_001164655, RefSeq Protein:NP_001930, RefSeq RNA:NM_001171184, RefSeq RNA:NM_001939, UCSC Genome Browser:NM_001939, UniProtKB:B4DIZ0, UniProtKB:Q13474 No chrX 100474933 100519485 101219786 101264497 +PA27488 1823 HGNC:3035 ENSG00000134765 desmocollin 1 DSC1 CDHF1 Yes No Comparative Toxicogenomics Database:1823, Ensembl:ENSG00000134765, GenAtlas:DSC1, GeneCard:DSC1, HGNC:HGNC:3035, HumanCyc Gene:HS05908, ModBase:Q08554, NCBI Gene:1823, OMIM:125643, RefSeq DNA:NT_010966, RefSeq Protein:NP_004939, RefSeq Protein:NP_077739, RefSeq RNA:NM_004948, RefSeq RNA:NM_024421, UCSC Genome Browser:NM_004948, UniProtKB:Q08554, UniProtKB:Q9HB00 No chr18 28709199 28742819 31129236 31162856 +PA27489 1824 HGNC:3036 ENSG00000134755 desmocollin 2 DSC2 CDHF2, DSC3 Yes No Comparative Toxicogenomics Database:1824, Ensembl:ENSG00000134755, GenAtlas:DSC2, GeneCard:DSC2, HGNC:HGNC:3036, HumanCyc Gene:HS05904, ModBase:Q02487, NCBI Gene:1824, OMIM:125645, OMIM:610476, RefSeq DNA:NG_008208, RefSeq DNA:NT_010966, RefSeq Protein:NP_004940, RefSeq Protein:NP_077740, RefSeq RNA:NM_004949, RefSeq RNA:NM_024422, UCSC Genome Browser:NM_004949, UniProtKB:Q02487 No chr18 28645938 28682388 31065974 31102432 +PA164741482 1825 HGNC:3037 ENSG00000134762 desmocollin 3 DSC3 CDHF3, DSC, DSC1, DSC2, DSC4 Yes No Ensembl:ENSG00000134762, GeneCard:DSC3, HGNC:HGNC:3037, HumanCyc Gene:HS05907, ModBase:Q14574, NCBI Gene:1825, OMIM:600271, OMIM:613102, RefSeq DNA:NG_016782, RefSeq DNA:NT_010966, RefSeq Protein:NP_001932, RefSeq Protein:NP_077741, RefSeq RNA:NM_001941, RefSeq RNA:NM_024423, UniProtKB:Q14574 No chr18 28570052 28622781 30989365 31042815 +PA27491 1826 HGNC:3039 ENSG00000171587 DS cell adhesion molecule DSCAM Down syndrome cell adhesion molecule CHD2-42, CHD2-52 Yes Yes Ensembl:ENSG00000171587, GenAtlas:DSCAM, GeneCard:DSCAM, HGNC:HGNC:3039, ModBase:O60469, NCBI Gene:1826, OMIM:602523, RefSeq DNA:NT_011512, RefSeq Protein:NP_001380, RefSeq RNA:NM_001389, UCSC Genome Browser:NM_001389, UniProtKB:O60469 No chr21 41384343 42219039 40010999 40847113 +PA38384 57453 HGNC:14656 ENSG00000177103 DS cell adhesion molecule like 1 DSCAML1 Down syndrome cell adhesion molecule like 1 KIAA1132 Yes No Comparative Toxicogenomics Database:57453, Ensembl:ENSG00000177103, GenAtlas:DSCAML1, GeneCard:DSCAML1, HGNC:HGNC:14656, ModBase:Q8TD84, NCBI Gene:57453, OMIM:611782, RefSeq DNA:NT_033899, RefSeq Protein:NP_065744, RefSeq RNA:NM_020693, UCSC Genome Browser:NM_020693, UniProtKB:Q8TD84 No chr11 117298489 117667976 117427772 117797261 +PA162384079 79075 HGNC:24453 ENSG00000136982 DNA replication and sister chromatid cohesion 1 DSCC1 defective in sister chromatid cohesion 1 homolog (S. cerevisiae), defective in sister chromatid cohesion homolog 1 (S. cerevisiae) DCC1, MGC5528, hDCC1 Yes No Ensembl:ENSG00000136982, GeneCard:DSCC1, HGNC:HGNC:24453, HumanCyc Gene:HS13651, NCBI Gene:79075, OMIM:613203, RefSeq DNA:NT_008046, RefSeq Protein:NP_076999, RefSeq RNA:NM_024094, UniProtKB:Q9BVC3 No chr8 120846181 120868170 119833941 119855930 +PA38400 259234 HGNC:16302 ENSG00000233316 Down syndrome critical region gene 10 (non-protein coding) DSCR10 Yes No Ensembl:ENSG00000233316, GenAtlas:DSCR10, GeneCard:DSCR10, HGNC:HGNC:16302, NCBI Gene:259234, RefSeq DNA:NT_011512, RefSeq RNA:NR_027695, RefSeq RNA:XR_078570, RefSeq RNA:XR_078916, RefSeq RNA:XR_079429, UCSC Genome Browser:NM_148676 No chr21 39578250 39580738 38206156 38208644 +PA27497 10281 HGNC:3045 ENSG00000184029 Down syndrome critical region 4 DSCR4 Down syndrome critical region gene 4 DCRB Yes No Ensembl:ENSG00000184029, GenAtlas:DSCR4, GeneCard:DSCR4, HGNC:HGNC:3045, NCBI Gene:10281, OMIM:604829, RefSeq DNA:NT_011512, RefSeq Protein:NP_005858, RefSeq RNA:NM_005867, UCSC Genome Browser:NM_005867, UniProtKB:P56555 No chr21 39426313 39493454 38054011 38121360 +PA27500 84677 HGNC:16707 ENSG00000198054 Down syndrome critical region gene 8 DSCR8 """cancer/testis antigen family 25, member 1a"", ""cancer/testis antigen family 25, member 1b"", ""malignant melanoma-associated 1""" CT25.1a, CT25.1b, MMA-1a, MMA-1b, MTAG2 Yes No Ensembl:ENSG00000198054, GenAtlas:DSCR8, GeneCard:DSCR8, HGNC:HGNC:16707, NCBI Gene:84677, OMIM:613396, RefSeq DNA:NT_011512, RefSeq RNA:NR_026838, RefSeq RNA:NR_026839, RefSeq RNA:NR_026840, RefSeq RNA:NR_026841, RefSeq RNA:NR_026842, UCSC Genome Browser:NM_032589 No chr21 39493545 39528605 38121451 38156511 +PA38399 257203 HGNC:16301 ENSG00000230366 Down syndrome critical region gene 9 (non-protein coding) DSCR9 non-protein coding RNA 38 NCRNA00038 Yes No Ensembl:ENSG00000230366, GenAtlas:DSCR9, GeneCard:DSCR9, HGNC:HGNC:16301, NCBI Gene:257203, RefSeq DNA:NT_011512, RefSeq RNA:NR_026719, UCSC Genome Browser:NM_148675 No chr21 38580804 38594037 37208503 37221736 +PA162384080 29940 HGNC:21144 ENSG00000111817 dermatan sulfate epimerase DSE DS-Epi1, DSEPI, SART2 Yes No Ensembl:ENSG00000111817, GeneCard:DSE, HGNC:HGNC:21144, HumanCyc Gene:HS03472, ModBase:Q9UL01, NCBI Gene:29940, OMIM:605942, RefSeq DNA:NT_025741, RefSeq Protein:NP_001074445, RefSeq Protein:NP_037484, RefSeq RNA:NM_001080976, RefSeq RNA:NM_013352, RefSeq RNA:XR_132745, UniProtKB:Q9UL01 No chr6 116601231 116762422 116254152 116441261 +PA162384097 92126 HGNC:18144 ENSG00000171451 dermatan sulfate epimerase like DSEL dermatan sulfate epimerase-like C18orf4, DE-epi2, FLJ11477, NCAG1 Yes No Ensembl:ENSG00000171451, GeneCard:DSEL, HGNC:HGNC:18144, HumanCyc Gene:HS15987, NCBI Gene:92126, OMIM:611125, RefSeq DNA:NT_025028, RefSeq Protein:NP_115536, RefSeq RNA:NM_032160, UniProtKB:Q8IZU8 No chr18 65173819 65183967 67506582 67516730 +PA27501 1828 HGNC:3048 ENSG00000134760 desmoglein 1 DSG1 CDHF4, DSG Yes No Comparative Toxicogenomics Database:1828, Ensembl:ENSG00000134760, GenAtlas:DSG1, GeneCard:DSG1, HGNC:HGNC:3048, HumanCyc Gene:HS05906, ModBase:Q02413, NCBI Gene:1828, OMIM:125670, OMIM:148700, RefSeq DNA:NG_011803, RefSeq DNA:NT_010966, RefSeq Protein:NP_001933, RefSeq RNA:NM_001942, UCSC Genome Browser:NM_001942, UniProtKB:Q02413 No chr18 28898052 28937394 31318089 31359246 +PA27502 1829 HGNC:3049 ENSG00000046604 desmoglein 2 DSG2 CDHF5 Yes No Comparative Toxicogenomics Database:1829, Ensembl:ENSG00000046604, GenAtlas:DSG2, GeneCard:DSG2, HGNC:HGNC:3049, HumanCyc Gene:HS00580, ModBase:Q14126, NCBI Gene:1829, OMIM:125671, OMIM:610193, OMIM:612877, RefSeq DNA:NG_007072, RefSeq DNA:NT_010966, RefSeq Protein:NP_001934, RefSeq RNA:NM_001943, UCSC Genome Browser:NM_001943, UniProtKB:Q14126 No chr18 29078027 29128814 31498004 31549008 +PA27503 1830 HGNC:3050 ENSG00000134757 desmoglein 3 DSG3 pemphigus vulgaris antigen CDHF6 Yes No Comparative Toxicogenomics Database:1830, Ensembl:ENSG00000134757, GenAtlas:DSG3, GeneCard:DSG3, HGNC:HGNC:3050, HumanCyc Gene:HS05905, ModBase:P32926, NCBI Gene:1830, OMIM:169615, RefSeq DNA:NT_010966, RefSeq Protein:NP_001935, RefSeq RNA:NM_001944, UCSC Genome Browser:NM_001944, UniProtKB:P32926 No chr18 29027732 29058665 31447769 31478702 +PA134925919 147409 HGNC:21307 ENSG00000175065 desmoglein 4 DSG4 CDHF13, LAH Yes No Comparative Toxicogenomics Database:147409, Ensembl:ENSG00000175065, GeneCard:DSG4, HGNC:HGNC:21307, ModBase:Q86SJ6, NCBI Gene:147409, OMIM:607892, OMIM:607903, RefSeq DNA:NG_013040, RefSeq DNA:NT_010966, RefSeq Protein:NP_001127925, RefSeq Protein:NP_817123, RefSeq RNA:NM_001134453, RefSeq RNA:NM_177986, UniProtKB:Q86SJ6 No chr18 28956740 28993880 31376777 31415791 +PA162384106 79980 HGNC:16165 ENSG00000149636 DSN1 component of MIS12 kinetochore complex DSN1 """DSN1 homolog, MIS12 kinetochore complex component"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"", ""DSN1, MIS12 kinetochore complex component"", ""kinetochore null 3 homolog (C. elegans)""" C20orf172, KNL3, MIS13, dJ469A13.2, hKNL-3 Yes No Ensembl:ENSG00000149636, GeneCard:DSN1, HGNC:HGNC:16165, HumanCyc Gene:HS07633, NCBI Gene:79980, OMIM:609175, RefSeq DNA:NT_011362, RefSeq Protein:NP_001138787, RefSeq Protein:NP_001138788, RefSeq Protein:NP_001138789, RefSeq Protein:NP_001138790, RefSeq Protein:NP_079194, RefSeq RNA:NM_001145315, RefSeq RNA:NM_001145316, RefSeq RNA:NM_001145317, RefSeq RNA:NM_001145318, RefSeq RNA:NM_024918, UniProtKB:A8K3X3, UniProtKB:B4DWT2, UniProtKB:Q5JW55, UniProtKB:Q9H410 No chr20 35380194 35402578 36751791 36773827 +PA27505 1832 HGNC:3052 ENSG00000096696 desmoplakin DSP DPI, DPII, KPPS2, PPKS2 Yes Yes Comparative Toxicogenomics Database:1832, Ensembl:ENSG00000096696, GenAtlas:DSP, GeneCard:DSP, HGNC:HGNC:3052, HumanCyc Gene:HS01869, ModBase:P15924, NCBI Gene:1832, OMIM:125647, OMIM:605676, OMIM:607450, OMIM:607655, OMIM:609638, OMIM:612908, RefSeq DNA:NG_008803, RefSeq DNA:NT_007592, RefSeq Protein:NP_001008844, RefSeq Protein:NP_004406, RefSeq RNA:NM_001008844, RefSeq RNA:NM_004415, UCSC Genome Browser:NM_004415, UniProtKB:P15924 No chr6 7541808 7586946 7541575 7586717 +PA27507 1834 HGNC:3054 ENSG00000152591 dentin sialophosphoprotein DSPP DFNA39, DGI1, DMP3 Yes No Comparative Toxicogenomics Database:1834, Ensembl:ENSG00000152591, GenAtlas:DSPP, GeneCard:DSPP, HGNC:HGNC:3054, HumanCyc Gene:HS07836, ModBase:Q9NZW4, NCBI Gene:1834, OMIM:125420, OMIM:125485, OMIM:125490, OMIM:125500, OMIM:605594, RefSeq DNA:NG_011595, RefSeq DNA:NT_016354, RefSeq Protein:NP_055023, RefSeq RNA:NM_014208, UCSC Genome Browser:NM_014208, UniProtKB:Q9NZW4 No chr4 88529681 88538025 87608529 87616873 +PA25399 667 HGNC:1090 ENSG00000151914 dystonin DST BP240, BPA, BPAG1, CATX-15, FLJ13425, FLJ21489, FLJ30627, FLJ32235, KIAA0728, MACF2 Yes No Comparative Toxicogenomics Database:667, Ensembl:ENSG00000151914, GenAtlas:DST, GeneCard:DST, HGNC:HGNC:1090, HumanCyc Gene:HS07779, ModBase:O94833, ModBase:Q8WXK8, ModBase:Q9UGD7, NCBI Gene:667, OMIM:113810, RefSeq DNA:NT_007592, RefSeq Protein:NP_001138241, RefSeq Protein:NP_001138242, RefSeq Protein:NP_001138243, RefSeq Protein:NP_001714, RefSeq Protein:NP_056363, RefSeq Protein:NP_065121, RefSeq Protein:NP_899236, RefSeq RNA:NM_001144769, RefSeq RNA:NM_001144770, RefSeq RNA:NM_001144771, RefSeq RNA:NM_001723, RefSeq RNA:NM_015548, RefSeq RNA:NM_020388, RefSeq RNA:NM_183380, RefSeq RNA:XR_132519, UCSC Genome Browser:NM_001723, UniProtKB:Q03001 No chr6 56322785 56819426 56457987 56954671 +PA27509 11034 HGNC:15750 ENSG00000125868 destrin, actin depolymerizing factor DSTN destrin (actin depolymerizing factor) ACTDP, ADF Yes No Comparative Toxicogenomics Database:11034, Ensembl:ENSG00000125868, GenAtlas:DSTN, GeneCard:DSTN, HGNC:HGNC:15750, HumanCyc Gene:HS04961, ModBase:P60981, NCBI Gene:11034, OMIM:609114, RefSeq DNA:NT_011387, RefSeq Protein:NP_001011546, RefSeq Protein:NP_006861, RefSeq RNA:NM_001011546, RefSeq RNA:NM_006870, UCSC Genome Browser:NM_006870, UniProtKB:B4DYA6, UniProtKB:P60981 No chr20 17549818 17588887 17569173 17608242 +PA134885413 387492 HGNC:23769 ENSG00000230982 destrin (actin depolymerizing factor) pseudogene 1 DSTNP1 Yes No Ensembl:ENSG00000230982, GeneCard:DSTNP1, HGNC:HGNC:23769, NCBI Gene:387492 No chr21 48073439 48073934 46653527 46654022 +PA164718861 25778 HGNC:29043 ENSG00000133059 dual serine/threonine and tyrosine protein kinase DSTYK DustyPK, KIAA0472, RIP5, RIPK5, SPG23 Yes No Ensembl:ENSG00000133059, GeneCard:DSTYK, HGNC:HGNC:29043, NCBI Gene:25778, OMIM:612666, RefSeq DNA:NT_004487, RefSeq Protein:NP_056190, RefSeq Protein:NP_955749, RefSeq RNA:NM_015375, RefSeq RNA:NM_199462, UniProtKB:Q6XUX3 No chr1 205111631 205180727 205142497 205211599 +PA162384107 92675 HGNC:16219 ENSG00000125821 D-aminoacyl-tRNA deacylase 1 DTD1 D-tyrosyl-tRNA deacylase 1, DNA-unwinding element-binding protein B C20orf88, DUEB, HARS2, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68 Yes No Ensembl:ENSG00000125821, GeneCard:DTD1, HGNC:HGNC:16219, HumanCyc Gene:HS04945, NCBI Gene:92675, OMIM:610996, RefSeq DNA:NT_011387, RefSeq Protein:NP_543010, RefSeq RNA:NM_080820, UniProtKB:Q8TEA8 No chr20 18568556 18744561 18587893 18763917 +PA134963117 112487 HGNC:20277 ENSG00000129480 D-aminoacyl-tRNA deacylase 2 DTD2 D-tyrosyl-tRNA deacylase 2 (putative) C14orf126, MGC9912 Yes No Ensembl:ENSG00000129480, GeneCard:C14orf126, HGNC:HGNC:20277, HumanCyc Gene:HS13301, ModBase:Q96FN9, NCBI Gene:112487, RefSeq DNA:NT_026437, RefSeq Protein:NP_542395, RefSeq RNA:NM_080664, UniProtKB:Q96FN9 No chr14 31915242 31926680 31446036 31457474 +PA165663634 401124 HGNC:37261 ENSG00000197057 death domain containing 1 DTHD1 FLJ16686 Yes No Ensembl:ENSG00000197057, GeneCard:DTHD1, HGNC:HGNC:37261, NCBI Gene:401124, RefSeq DNA:NT_016297, RefSeq Protein:NP_001130008, RefSeq Protein:NP_001164171, RefSeq RNA:NM_001136536, RefSeq RNA:NM_001170700, UniProtKB:Q6ZMT9 No chr4 36283237 36346407 36281593 36347511 +PA142671941 51514 HGNC:30288 ENSG00000143476 denticleless E3 ubiquitin protein ligase homolog DTL DDB1 and CUL4 associated factor 2, RA regulated nuclear matrix associated protein, denticleless E3 ubiquitin protein ligase homolog (Drosophila) CDT2, DCAF2, L2DTL, RAMP Yes No Comparative Toxicogenomics Database:51514, Ensembl:ENSG00000143476, GeneCard:DTL, HGNC:HGNC:30288, HumanCyc Gene:HS13968, ModBase:Q9NZJ0, NCBI Gene:51514, OMIM:610617, RefSeq DNA:NT_167186, RefSeq Protein:NP_057532, RefSeq RNA:NM_016448, UniProtKB:Q9NZJ0 No chr1 212208919 212278187 212035553 212105006 +PA27510 1837 HGNC:3057 ENSG00000134769 dystrobrevin alpha DTNA """dystrobrevin, alpha"", ""dystrophin-related protein 3""" D18S892E, DRP3, DTN, DTN-1, DTN-2, DTN-3 Yes No Comparative Toxicogenomics Database:1837, Ensembl:ENSG00000134769, GenAtlas:DTNA, GeneCard:DTNA, HGNC:HGNC:3057, HumanCyc Gene:HS05909, ModBase:Q13499, NCBI Gene:1837, OMIM:601239, OMIM:604169, OMIM:606617, RefSeq DNA:NG_009201, RefSeq DNA:NT_010966, RefSeq Protein:NP_001121647, RefSeq Protein:NP_001185867, RefSeq Protein:NP_001185868, RefSeq Protein:NP_001185869, RefSeq Protein:NP_001185870, RefSeq Protein:NP_001185871, RefSeq Protein:NP_001185872, RefSeq Protein:NP_001185873, RefSeq Protein:NP_001185874, RefSeq Protein:NP_001381, RefSeq Protein:NP_001382, RefSeq Protein:NP_001383, RefSeq Protein:NP_116757, RefSeq Protein:NP_116760, RefSeq Protein:NP_116761, RefSeq Protein:NP_116762, RefSeq Protein:NP_116763, RefSeq RNA:NM_001128175, RefSeq RNA:NM_001198938, RefSeq RNA:NM_001198939, RefSeq RNA:NM_001198940, RefSeq RNA:NM_001198941, RefSeq RNA:NM_001198942, RefSeq RNA:NM_001198943, RefSeq RNA:NM_001198944, RefSeq RNA:NM_001198945, RefSeq RNA:NM_001390, RefSeq RNA:NM_001391, RefSeq RNA:NM_001392, RefSeq RNA:NM_032975, RefSeq RNA:NM_032978, RefSeq RNA:NM_032979, RefSeq RNA:NM_032980, RefSeq RNA:NM_032981, UCSC Genome Browser:NM_001390, UniProtKB:A8K541, UniProtKB:Q59GK7, UniProtKB:Q9BS59, UniProtKB:Q9Y4J8 No chr18 32073254 32471808 34493290 34891844 +PA27511 1838 HGNC:3058 ENSG00000138101 dystrobrevin beta DTNB dystrobrevin, beta Yes No Comparative Toxicogenomics Database:1838, Ensembl:ENSG00000138101, GenAtlas:DTNB, GeneCard:DTNB, HGNC:HGNC:3058, HumanCyc Gene:HS06456, ModBase:O60941, NCBI Gene:1838, OMIM:602415, RefSeq DNA:NT_022184, RefSeq Protein:NP_068707, RefSeq Protein:NP_149159, RefSeq Protein:NP_149160, RefSeq Protein:NP_899204, RefSeq Protein:NP_899205, RefSeq RNA:NM_021907, RefSeq RNA:NM_033147, RefSeq RNA:NM_033148, RefSeq RNA:NM_183360, RefSeq RNA:NM_183361, UCSC Genome Browser:NM_021907, UniProtKB:O60941, UniProtKB:Q86VR4, UniProtKB:Q96AW0 No chr2 25600067 25896516 25377220 25673647 +PA27512 84062 HGNC:17328 ENSG00000047579 dystrobrevin binding protein 1 DTNBP1 """biogenesis of lysosomal organelles complex-1, subunit 8"", ""dysbindin-1""" BLOC1S8, DBND, Dysbindin, HPS7, My031 Yes Yes Comparative Toxicogenomics Database:84062, Ensembl:ENSG00000047579, GenAtlas:DTNBP1, GeneCard:DTNBP1, HGNC:HGNC:17328, HumanCyc Gene:HS12105, ModBase:Q96EV8, NCBI Gene:84062, OMIM:181500, OMIM:203300, OMIM:607145, RefSeq DNA:NG_009309, RefSeq DNA:NT_007592, RefSeq Protein:NP_115498, RefSeq Protein:NP_898861, RefSeq Protein:NP_898862, RefSeq RNA:NM_032122, RefSeq RNA:NM_183040, RefSeq RNA:NM_183041, RefSeq RNA:NR_036448, UCSC Genome Browser:NM_032122, UniProtKB:A8MZA9, UniProtKB:Q96EV8 No chr6 15523032 15663289 15522801 15663058 +PA142671942 56986 HGNC:30926 ENSG00000104047 DTW domain containing 1 DTWD1 MDS009, MGC111207 Yes No Comparative Toxicogenomics Database:56986, Ensembl:ENSG00000104047, GeneCard:DTWD1, HGNC:HGNC:30926, HumanCyc Gene:HS12539, ModBase:Q8N5C7, NCBI Gene:56986, RefSeq DNA:NT_010194, RefSeq Protein:NP_001138427, RefSeq Protein:NP_064619, RefSeq RNA:NM_001144955, RefSeq RNA:NM_020234, UniProtKB:Q8N5C7 No chr15 49913226 49937333 49620980 49654448 +PA142671943 285605 HGNC:19334 ENSG00000169570 DTW domain containing 2 DTWD2 FLJ33977 Yes No Ensembl:ENSG00000169570, GeneCard:DTWD2, HGNC:HGNC:19334, HumanCyc Gene:HS15786, ModBase:Q8NBA8, NCBI Gene:285605, RefSeq DNA:NT_034772, RefSeq Protein:NP_775937, RefSeq RNA:NM_173666, UniProtKB:Q8NBA8 No chr5 118172569 118324240 118836074 118989938 +PA27514 1840 HGNC:3060 ENSG00000135144 deltex E3 ubiquitin ligase 1 DTX1 """deltex 1, E3 ubiquitin ligase"", ""deltex homolog 1 (Drosophila)""" RNF140, hDx-1 Yes No Comparative Toxicogenomics Database:1840, Ensembl:ENSG00000135144, GenAtlas:DTX1, GeneCard:DTX1, HGNC:HGNC:3060, HumanCyc Gene:HS05961, ModBase:Q86Y01, NCBI Gene:1840, OMIM:602582, RefSeq DNA:NT_009775, RefSeq Protein:NP_004407, RefSeq RNA:NM_004416, UCSC Genome Browser:NM_004416, UniProtKB:Q86Y01 No chr12 113494514 113535833 113056711 113098028 +PA27515 113878 HGNC:15973 ENSG00000091073 deltex E3 ubiquitin ligase 2 DTX2 """deltex 2, E3 ubiquitin ligase"", ""deltex homolog 2 (Drosophila)""" KIAA1528, RNF58 Yes No Comparative Toxicogenomics Database:113878, Ensembl:ENSG00000091073, GenAtlas:DTX2, GeneCard:DTX2, HGNC:HGNC:15973, HumanCyc Gene:HS01719, ModBase:Q86UW9, NCBI Gene:113878, OMIM:613141, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001096064, RefSeq Protein:NP_001096065, RefSeq Protein:NP_001096066, RefSeq Protein:NP_065943, RefSeq RNA:NM_001102594, RefSeq RNA:NM_001102595, RefSeq RNA:NM_001102596, RefSeq RNA:NM_020892, UCSC Genome Browser:NM_020892, UniProtKB:Q6XM87, UniProtKB:Q86UW9 No chr7 76090972 76135312 76461655 76505995 +PA134887936 196403 HGNC:24457 ENSG00000178498 deltex E3 ubiquitin ligase 3 DTX3 """deltex 3, E3 ubiquitin ligase"", ""deltex homolog 3 (Drosophila)""" FLJ34766, RNF154 Yes No Ensembl:ENSG00000178498, GeneCard:DTX3, HGNC:HGNC:24457, ModBase:Q8N9I9, NCBI Gene:196403, OMIM:613142, RefSeq DNA:NT_029419, RefSeq Protein:NP_848597, RefSeq RNA:NM_178502, UniProtKB:Q53ZZ2, UniProtKB:Q8N9I9 No chr12 57998110 58003585 57604327 57609804 +PA134864792 151636 HGNC:30323 ENSG00000163840 deltex E3 ubiquitin ligase 3L DTX3L """deltex 3 like, E3 ubiquitin ligase"", ""deltex 3-like (Drosophila)"", ""rhysin 2""" BBAP, RNF143 Yes No Ensembl:ENSG00000163840, GeneCard:DTX3L, HGNC:HGNC:30323, HumanCyc Gene:HS15115, ModBase:Q8TDB6, NCBI Gene:151636, OMIM:613143, RefSeq DNA:NT_005612, RefSeq Protein:NP_612144, RefSeq RNA:NM_138287, UniProtKB:Q8TDB6 No chr3 122283085 122294050 122564338 122575203 +PA134930720 23220 HGNC:29151 ENSG00000110042 deltex E3 ubiquitin ligase 4 DTX4 """deltex 4, E3 ubiquitin ligase"", ""deltex homolog 4 (Drosophila)""" KIAA0937, RNF155 Yes No Comparative Toxicogenomics Database:23220, Ensembl:ENSG00000110042, GeneCard:DTX4, HGNC:HGNC:29151, ModBase:Q9Y2E6, NCBI Gene:23220, RefSeq DNA:NT_167190, RefSeq Protein:NP_055992, RefSeq RNA:NM_015177, UniProtKB:Q9Y2E6 No chr11 58939812 58976060 59171430 59208587 +PA150 1841 HGNC:3061 ENSG00000168393 deoxythymidylate kinase DTYMK dTMP kinase, deoxythymidylate kinase (thymidylate kinase), thymidylate (dTMP) kinase CDC8, TMPK, TYMK Yes No Comparative Toxicogenomics Database:1841, Ensembl:ENSG00000168393, GenAtlas:DTYMK, GeneCard:DTYMK, HGNC:HGNC:3061, HumanCyc Gene:HS09745, HumanCyc Gene:HS11384, HumanCyc Gene:HS11626, ModBase:P23919, NCBI Gene:1841, OMIM:188345, RefSeq DNA:NT_005416, RefSeq Protein:NP_001158503, RefSeq Protein:NP_036277, RefSeq RNA:NM_001165031, RefSeq RNA:NM_012145, RefSeq RNA:NR_033255, UCSC Genome Browser:NM_012145, UniProtKB:P23919, UniProtKB:Q53F55, UniProtKB:Q6FGU2 No chr2 242615157 242626383 241675742 241686968 +PA27516 53905 HGNC:3062 ENSG00000137857 dual oxidase 1 DUOX1 NADPH thyroid oxidase 1, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase LNOX1, NOXEF1, THOX1 Yes No Comparative Toxicogenomics Database:53905, Ensembl:ENSG00000137857, GenAtlas:DUOX1, GeneCard:DUOX1, HGNC:HGNC:3062, HumanCyc Gene:HS06411, ModBase:Q9NRD9, NCBI Gene:53905, OMIM:606758, RefSeq DNA:NT_010194, RefSeq Protein:NP_059130, RefSeq Protein:NP_787954, RefSeq RNA:NM_017434, RefSeq RNA:NM_175940, UCSC Genome Browser:NM_017434, UniProtKB:Q9NRD9 No chr15 45422192 45457776 45129994 45165578 +PA27517 50506 HGNC:13273 ENSG00000140279 dual oxidase 2 DUOX2 NADH/NADPH thyroid oxidase p138-tox, NADPH oxidase/peroxidase DUOX2, NADPH thyroid oxidase 2, dual oxidase-like domains 2, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase LNOX2, P138(TOX), P138-TOX, THOX2 Yes No Comparative Toxicogenomics Database:50506, Ensembl:ENSG00000140279, GenAtlas:DUOX2, GeneCard:DUOX2, HGNC:HGNC:13273, HumanCyc Gene:HS06694, ModBase:Q9NRD8, NCBI Gene:50506, OMIM:606759, OMIM:607200, RefSeq DNA:NG_009447, RefSeq DNA:NT_010194, RefSeq Protein:NP_054799, RefSeq RNA:NM_014080, UCSC Genome Browser:NM_014080, UniProtKB:Q9NRD8 No chr15 45384851 45406537 45092653 45114161 +PA145008497 90527 HGNC:26507 ENSG00000140254 dual oxidase maturation factor 1 DUOXA1 FLJ32334, NIP, NUMBIP, mol Yes No Ensembl:ENSG00000140254, GeneCard:DUOXA1, HGNC:HGNC:26507, HumanCyc Gene:HS13820, NCBI Gene:90527, OMIM:612771, RefSeq DNA:NT_010194, RefSeq Protein:NP_653166, RefSeq RNA:NM_144565, UniProtKB:A8K9Q6, UniProtKB:Q1HG43 No chr15 45409564 45422075 45117366 45129938 +PA145008523 405753 HGNC:32698 ENSG00000140274 dual oxidase maturation factor 2 DUOXA2 Yes No Ensembl:ENSG00000140274, GeneCard:DUOXA2, HGNC:HGNC:32698, ModBase:Q1HG44, NCBI Gene:405753, OMIM:274900, OMIM:612772, RefSeq DNA:NG_016992, RefSeq DNA:NT_010194, RefSeq Protein:NP_997464, RefSeq RNA:NM_207581, UniProtKB:Q1HG44 No chr15 45406523 45410304 45114321 45118106 +PA142671936 64118 HGNC:30086 ENSG00000169718 dihydrouridine synthase 1 like DUS1L dihydrouridine synthase 1-like (S. cerevisiae) DUS1, PP3111 Yes No Comparative Toxicogenomics Database:64118, Ensembl:ENSG00000169718, GeneCard:DUS1L, HGNC:HGNC:30086, HumanCyc Gene:HS09996, ModBase:Q6P1R4, NCBI Gene:64118, RefSeq DNA:NT_010663, RefSeq Protein:NP_071439, RefSeq RNA:NM_022156, UniProtKB:Q6P1R4 No chr17 80015748 80023697 82057872 82065821 +PA142671937 54920 HGNC:26014 ENSG00000167264 dihydrouridine synthase 2 DUS2 """SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""tRNA-dihydrouridine(20) synthase (NAD(P)(+))""" DUS2, DUS2L, FLJ20399, SMM1 Yes No Comparative Toxicogenomics Database:54920, Ensembl:ENSG00000167264, GeneCard:DUS2L, HGNC:HGNC:26014, HumanCyc Gene:HS09533, ModBase:Q9NX74, NCBI Gene:54920, OMIM:609707, RefSeq DNA:NT_010498, RefSeq Protein:NP_060273, RefSeq RNA:NM_017803, UniProtKB:Q9NX74 No chr16 68056847 68113226 68022944 68079323 +PA142671938 56931 HGNC:26920 ENSG00000141994 dihydrouridine synthase 3 like DUS3L dihydrouridine synthase 3-like (S. cerevisiae) DUS3, FLJ13896 Yes No Comparative Toxicogenomics Database:56931, Ensembl:ENSG00000141994, GeneCard:DUS3L, HGNC:HGNC:26920, HumanCyc Gene:HS06886, ModBase:Q96G46, NCBI Gene:56931, RefSeq DNA:NT_011255, RefSeq Protein:NP_001155091, RefSeq Protein:NP_064560, RefSeq RNA:NM_001161619, RefSeq RNA:NM_020175, UniProtKB:B2RDV7, UniProtKB:Q96G46 No chr19 5785151 5791249 5785136 5791238 +PA142671939 11062 HGNC:21517 ENSG00000105865 dihydrouridine synthase 4 like DUS4L dihydrouridine synthase 4-like (S. cerevisiae), protein similar to E.coli yhdg and R. capsulatus nifR3 DUS4, PP35 Yes No Ensembl:ENSG00000105865, GeneCard:DUS4L, HGNC:HGNC:21517, HumanCyc Gene:HS02823, ModBase:O95620, NCBI Gene:11062, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_853559, RefSeq RNA:NM_181581, UniProtKB:A4D0R5, UniProtKB:O95620 No chr7 107204402 107218968 107563957 107578523 +PA27519 1843 HGNC:3064 ENSG00000120129 dual specificity phosphatase 1 DUSP1 CL100, HVH1, MKP-1, PTPN10 Yes Yes Comparative Toxicogenomics Database:1843, Ensembl:ENSG00000120129, GenAtlas:DUSP1, GeneCard:DUSP1, HGNC:HGNC:3064, HumanCyc Gene:HS04371, ModBase:P28562, NCBI Gene:1843, OMIM:600714, RefSeq DNA:NT_023133, RefSeq Protein:NP_004408, RefSeq RNA:NM_004417, UCSC Genome Browser:NM_004417, UniProtKB:P28562 No chr5 172195093 172198203 172768090 172771200 +PA27520 11221 HGNC:3065 ENSG00000143507 dual specificity phosphatase 10 DUSP10 MKP-5, MKP5 Yes No Comparative Toxicogenomics Database:11221, Ensembl:ENSG00000143507, GenAtlas:DUSP10, GeneCard:DUSP10, HGNC:HGNC:3065, HumanCyc Gene:HS07066, ModBase:Q9Y6W6, NCBI Gene:11221, OMIM:608867, RefSeq DNA:NT_167186, RefSeq Protein:NP_009138, RefSeq Protein:NP_653329, RefSeq Protein:NP_653330, RefSeq RNA:NM_007207, RefSeq RNA:NM_144728, RefSeq RNA:NM_144729, UCSC Genome Browser:NM_007207, UniProtKB:Q9Y6W6 No chr1 221874764 221916204 221701420 221742176 +PA27521 8446 HGNC:3066 ENSG00000144048 dual specificity phosphatase 11 DUSP11 RNA/RNP complex 1-interacting, dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) PIR1 Yes No Comparative Toxicogenomics Database:8446, Ensembl:ENSG00000144048, GenAtlas:DUSP11, GeneCard:DUSP11, HGNC:HGNC:3066, HumanCyc Gene:HS07143, ModBase:O75319, NCBI Gene:8446, OMIM:603092, RefSeq DNA:NT_022184, RefSeq Protein:NP_003575, RefSeq RNA:NM_003584, UCSC Genome Browser:NM_003584, UniProtKB:O75319 No chr2 73989325 74007284 73762184 73780157 +PA27522 11266 HGNC:3067 ENSG00000081721 dual specificity phosphatase 12 DUSP12 YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog, serine/threonine specific protein phosphatase DUSP1, YVH1 Yes No Comparative Toxicogenomics Database:11266, Ensembl:ENSG00000081721, GenAtlas:DUSP12, GeneCard:DUSP12, HGNC:HGNC:3067, HumanCyc Gene:HS01399, ModBase:Q9UNI6, NCBI Gene:11266, OMIM:604835, RefSeq DNA:NT_004487, RefSeq Protein:NP_009171, RefSeq RNA:NM_007240, UCSC Genome Browser:NM_007240, UniProtKB:Q9UNI6 No chr1 161719558 161726952 161749692 161757164 +PA166352474 128854680 HGNC:56772 dual specificity phosphatase 13A DUSP13A branching-enzyme interacting DSP, branching-enzyme interacting dual specificity phosphatase, muscle-restricted dual specificity phosphatase BEDP, MDSP Yes No HGNC:HGNC:56772, NCBI Gene:128854680 No 0 0 0 0 +PA134939640 51207 HGNC:19681 ENSG00000079393 dual specificity phosphatase 13B DUSP13B Testis- and skeletal muscle-specific DUSP, dual specificity phosphatase 13 BEDP, DUSP13, DUSP13A, DUSP13B, FLJ32450, SKRP4, TMDP Yes No Comparative Toxicogenomics Database:51207, Ensembl:ENSG00000079393, GeneCard:DUSP13, HGNC:HGNC:19681, HumanCyc Gene:HS01326, ModBase:Q9UII6, NCBI Gene:51207, OMIM:613191, RefSeq DNA:NT_030059, RefSeq Protein:NP_001007272, RefSeq Protein:NP_001007273, RefSeq Protein:NP_001007274, RefSeq Protein:NP_057448, RefSeq RNA:NM_001007271, RefSeq RNA:NM_001007272, RefSeq RNA:NM_001007273, RefSeq RNA:NM_016364, UniProtKB:Q6B8I1, UniProtKB:Q9UII6 No chr10 76854190 76868976 75094432 75109221 +PA27523 11072 HGNC:17007 ENSG00000276023 dual specificity phosphatase 14 DUSP14 MKP-1 like protein tyrosine phosphatase MKP-L, MKP6 Yes No Ensembl:ENSG00000276023, GenAtlas:DUSP14, GeneCard:DUSP14, HGNC:HGNC:17007, HumanCyc Gene:HS08583, ModBase:O95147, NCBI Gene:11072, OMIM:606618, RefSeq DNA:NT_010783, RefSeq Protein:NP_008957, RefSeq RNA:NM_007026, UCSC Genome Browser:NM_007026, UniProtKB:O95147, UniProtKB:Q6FI36 No chr17 35849951 35873603 37488561 37513501 +PA27524 128853 HGNC:16236 ENSG00000149599 dual specificity phosphatase 15 DUSP15 C20orf57, FLJ20645, VHY, bA243J16.5, bA243J16.6 Yes No Ensembl:ENSG00000149599, GenAtlas:DUSP15, GeneCard:DUSP15, HGNC:HGNC:16236, HumanCyc Gene:HS07632, NCBI Gene:128853, RefSeq DNA:NT_011362, RefSeq Protein:NP_001012662, RefSeq Protein:NP_542178, RefSeq Protein:NP_817130, RefSeq RNA:NM_001012644, RefSeq RNA:NM_080611, RefSeq RNA:NM_177991, UCSC Genome Browser:NM_080611, UniProtKB:A8MVC8, UniProtKB:Q9H1R2 No chr20 30435441 30458479 31845578 31870744 +PA38475 80824 HGNC:17909 ENSG00000111266 dual specificity phosphatase 16 DUSP16 MAPK phosphatase-7 KIAA1700, MKP-7, MKP7 Yes No Comparative Toxicogenomics Database:80824, Ensembl:ENSG00000111266, GenAtlas:DUSP16, GeneCard:DUSP16, HGNC:HGNC:17909, HumanCyc Gene:HS03392, ModBase:Q9BY84, NCBI Gene:80824, OMIM:607175, RefSeq DNA:NG_021402, RefSeq DNA:NT_009714, RefSeq Protein:NP_085143, RefSeq RNA:NM_030640, UniProtKB:Q9BY84 No chr12 12626216 12715773 12473282 12562839 +PA134928498 150290 HGNC:18484 ENSG00000167065 dual specificity phosphatase 18 DUSP18 DUSP20 Yes No Ensembl:ENSG00000167065, GeneCard:DUSP18, HGNC:HGNC:18484, HumanCyc Gene:HS09503, ModBase:Q8NEJ0, NCBI Gene:150290, OMIM:611446, RefSeq DNA:NT_011520, RefSeq Protein:NP_689724, RefSeq RNA:NM_152511, UniProtKB:Q8NEJ0 No chr22 31058039 31063874 30652051 30667890 +PA134895660 142679 HGNC:18894 ENSG00000162999 dual specificity phosphatase 19 DUSP19 DUSP17, SKRP1 Yes No Comparative Toxicogenomics Database:142679, Ensembl:ENSG00000162999, GeneCard:DUSP19, HGNC:HGNC:18894, HumanCyc Gene:HS08771, ModBase:Q8WTR2, NCBI Gene:142679, OMIM:611437, RefSeq DNA:NT_005403, RefSeq Protein:NP_001135786, RefSeq Protein:NP_543152, RefSeq RNA:NM_001142314, RefSeq RNA:NM_080876, UniProtKB:Q8WTR2 No chr2 183943287 183964736 183078559 183100008 +PA27525 1844 HGNC:3068 ENSG00000158050 dual specificity phosphatase 2 DUSP2 PAC-1 Yes No Comparative Toxicogenomics Database:1844, Ensembl:ENSG00000158050, GenAtlas:DUSP2, GeneCard:DUSP2, HGNC:HGNC:3068, HumanCyc Gene:HS08264, ModBase:Q05923, NCBI Gene:1844, OMIM:603068, RefSeq DNA:NT_022171, RefSeq Protein:NP_004409, RefSeq RNA:NM_004418, UCSC Genome Browser:NM_004418, UniProtKB:Q05923 No chr2 96808908 96811206 96143166 96145468 +PA134967875 63904 HGNC:20476 ENSG00000189037 dual specificity phosphatase 21 DUSP21 Yes No Ensembl:ENSG00000189037, GeneCard:DUSP21, HGNC:HGNC:20476, HumanCyc Gene:HS04776, ModBase:Q9H596, NCBI Gene:63904, OMIM:300678, RefSeq DNA:NG_013231, RefSeq DNA:NT_079573, RefSeq Protein:NP_071359, RefSeq RNA:NM_022076, UniProtKB:Q9H596 No chrX 44703249 44704134 44844003 44844888 +PA134991025 56940 HGNC:16077 ENSG00000112679 dual specificity phosphatase 22 DUSP22 JKAP, JSP1, MKPX, VHX Yes No Comparative Toxicogenomics Database:56940, Ensembl:ENSG00000112679, GeneCard:DUSP22, HGNC:HGNC:16077, HumanCyc Gene:HS03604, ModBase:Q9NRW4, NCBI Gene:56940, RefSeq DNA:NT_007592, RefSeq Protein:NP_064570, RefSeq RNA:NM_020185, UniProtKB:Q9NRW4 No chr6 292101 351355 292057 351355 +PA134983082 54935 HGNC:21480 ENSG00000158716 dual specificity phosphatase 23 DUSP23 DUSP25, FLJ20442 Yes No Ensembl:ENSG00000158716, GeneCard:DUSP23, HGNC:HGNC:21480, HumanCyc Gene:HS08321, ModBase:Q9BVJ7, NCBI Gene:54935, RefSeq DNA:NT_004487, RefSeq Protein:NP_060293, RefSeq RNA:NM_017823, UniProtKB:Q9BVJ7 No chr1 159750730 159752333 159780946 159782546 +PA142671921 78986 HGNC:28161 ENSG00000133878 dual specificity phosphatase 26 DUSP26 dual specificity phosphatase 26 (putative), neuroendocrine-associated phosphatase DUSP24, MGC1136, NEAP Yes No Comparative Toxicogenomics Database:78986, Ensembl:ENSG00000133878, GeneCard:DUSP26, HGNC:HGNC:28161, HumanCyc Gene:HS05793, ModBase:Q9BV47, NCBI Gene:78986, RefSeq DNA:NT_167187, RefSeq Protein:NP_076930, RefSeq RNA:NM_024025, UniProtKB:Q9BV47 No chr8 33448848 33457546 33591330 33600106 +PA162384124 285193 HGNC:33237 ENSG00000188542 dual specificity phosphatase 28 DUSP28 DUSP26, VHP Yes No Ensembl:ENSG00000188542, GeneCard:DUSP28, HGNC:HGNC:33237, ModBase:Q4G0W2, NCBI Gene:285193, RefSeq DNA:NT_005416, RefSeq Protein:NP_001028747, RefSeq RNA:NM_001033575, UniProtKB:Q4G0W2 No chr2 241499471 241503431 240560054 240564014 +PA166352475 338599 HGNC:23481 dual specificity phosphatase 29 DUSP29 DUPD1 DUSP27 Yes No HGNC:HGNC:23481, NCBI Gene:338599 No 0 0 0 0 +PA27526 1845 HGNC:3069 ENSG00000108861 dual specificity phosphatase 3 DUSP3 VHR Yes No Comparative Toxicogenomics Database:1845, Ensembl:ENSG00000108861, GenAtlas:DUSP3, GeneCard:DUSP3, HGNC:HGNC:3069, HumanCyc Gene:HS03174, ModBase:P51452, NCBI Gene:1845, OMIM:600183, RefSeq DNA:NT_010783, RefSeq Protein:NP_004081, RefSeq RNA:NM_004090, UCSC Genome Browser:NM_004090, UniProtKB:P51452 No chr17 41843489 41856368 43766121 43779000 +PA27527 1846 HGNC:3070 ENSG00000120875 dual specificity phosphatase 4 DUSP4 MAP kinase phosphatase 2, VH1 homologous phosphatase 2 HVH2, MKP-2, TYP Yes No Comparative Toxicogenomics Database:1846, Ensembl:ENSG00000120875, GenAtlas:DUSP4, GeneCard:DUSP4, HGNC:HGNC:3070, HumanCyc Gene:HS04443, ModBase:Q13115, NCBI Gene:1846, OMIM:602747, RefSeq DNA:NT_167187, RefSeq Protein:NP_001385, RefSeq Protein:NP_476499, RefSeq RNA:NM_001394, RefSeq RNA:NM_057158, UCSC Genome Browser:NM_001394, UniProtKB:Q13115 No chr8 29190579 29208267 29333062 29350750 +PA27528 1847 HGNC:3071 ENSG00000138166 dual specificity phosphatase 5 DUSP5 HVH3 Yes No Comparative Toxicogenomics Database:1847, Ensembl:ENSG00000138166, GenAtlas:DUSP5, GeneCard:DUSP5, HGNC:HGNC:3071, HumanCyc Gene:HS06468, ModBase:Q16690, NCBI Gene:1847, OMIM:603069, RefSeq DNA:NT_030059, RefSeq Protein:NP_004410, RefSeq RNA:NM_004419, UCSC Genome Browser:NM_004419, UniProtKB:Q16690 No chr10 112257625 112271302 110497867 110511544 +PA142671940 574029 HGNC:32020 ENSG00000183929 dual specificity phosphatase 5 pseudogene 1 DUSP5P1 FLJ34941 Yes No Ensembl:ENSG00000183929, GeneCard:DUSP5P, HGNC:HGNC:32020, NCBI Gene:574029, RefSeq DNA:NT_167186, RefSeq RNA:NR_002834 No chr1 228780657 228788159 228644910 228652412 +PA27529 1848 HGNC:3072 ENSG00000139318 dual specificity phosphatase 6 DUSP6 MKP-3, PYST1 Yes No Comparative Toxicogenomics Database:1848, Ensembl:ENSG00000139318, GenAtlas:DUSP6, GeneCard:DUSP6, HGNC:HGNC:3072, HumanCyc Gene:HS06607, ModBase:Q16828, NCBI Gene:1848, OMIM:602748, RefSeq DNA:NT_029419, RefSeq Protein:NP_001937, RefSeq Protein:NP_073143, RefSeq RNA:NM_001946, RefSeq RNA:NM_022652, UCSC Genome Browser:NM_001946, UniProtKB:Q16828 No chr12 89741837 89746296 89347825 89352859 +PA27530 1849 HGNC:3073 ENSG00000164086 dual specificity phosphatase 7 DUSP7 MKP-X, PYST2 Yes No Comparative Toxicogenomics Database:1849, Ensembl:ENSG00000164086, GenAtlas:DUSP7, GeneCard:DUSP7, HGNC:HGNC:3073, HumanCyc Gene:HS09006, ModBase:Q16829, NCBI Gene:1849, OMIM:602749, RefSeq DNA:NT_022517, RefSeq Protein:NP_001938, RefSeq RNA:NM_001947, UniProtKB:Q16829 No chr3 52082935 52090461 52048919 52056445 +PA27531 1850 HGNC:3074 ENSG00000184545 dual specificity phosphatase 8 DUSP8 """H1 phosphatase, vaccinia virus homolog"", ""serine/threonine specific protein phosphatase""" C11orf81, FLJ42958, HB5, HVH-5 Yes No Comparative Toxicogenomics Database:1850, Ensembl:ENSG00000184545, GenAtlas:DUSP8, GeneCard:DUSP8, HGNC:HGNC:3074, HumanCyc Gene:HS00009, ModBase:Q13202, NCBI Gene:1850, OMIM:602038, RefSeq DNA:NT_009237, RefSeq Protein:NP_004411, RefSeq RNA:NM_004420, UCSC Genome Browser:NM_004420, UniProtKB:Q13202, UniProtKB:Q6ZV59 No chr11 1575281 1593150 1554051 1572839 +PA27532 441554 HGNC:3075 ENSG00000215065 dual specificity phosphatase 8 pseudogene 1 DUSP8P1 DUSP8P3 Yes No Ensembl:ENSG00000215065, GenAtlas:DUSP8P, GeneCard:DUSP8P, HGNC:HGNC:3075, NCBI Gene:441554 No chr10 46773447 46775208 47564128 47567737 +PA27533 1852 HGNC:3076 ENSG00000130829 dual specificity phosphatase 9 DUSP9 map kinase phosphatase 4 MKP-4, MKP4 Yes No Comparative Toxicogenomics Database:1852, Ensembl:ENSG00000130829, GenAtlas:DUSP9, GeneCard:DUSP9, HGNC:HGNC:3076, HumanCyc Gene:HS05453, ModBase:Q99956, NCBI Gene:1852, OMIM:300134, RefSeq DNA:NT_167198, RefSeq Protein:NP_001386, RefSeq RNA:NM_001395, UCSC Genome Browser:NM_001395, UniProtKB:B2RAL9, UniProtKB:Q99956 No chrX 152907897 152916781 153642443 153651326 +PA151 1854 HGNC:3078 ENSG00000128951 deoxyuridine triphosphatase DUT dUTP diphosphatase dUTPase Yes No Comparative Toxicogenomics Database:1854, Ensembl:ENSG00000128951, GenAtlas:DUT, GeneCard:DUT, HGNC:HGNC:3078, HumanCyc Gene:HS05235, ModBase:P33316, NCBI Gene:1854, OMIM:601266, RefSeq DNA:NT_010194, RefSeq Protein:NP_001020419, RefSeq Protein:NP_001020420, RefSeq Protein:NP_001939, RefSeq RNA:NM_001025248, RefSeq RNA:NM_001025249, RefSeq RNA:NM_001948, UCSC Genome Browser:NM_001948, UniProtKB:P33316 No chr15 48623215 48635570 48331018 48343373 +PA142671923 548637 HGNC:31956 ENSG00000229048 deoxyuridine triphosphatase pseudogene 1 DUTP1 Yes No Ensembl:ENSG00000229048, HGNC:HGNC:31956, NCBI Gene:548637 No chr3 125029742 125030188 125310898 125311344 +PA27535 26584 HGNC:3079 double homeobox 1 DUX1 Yes Yes GenAtlas:DUX1, GeneCard:DUX1, HGNC:HGNC:3079, ModBase:O43812, NCBI Gene:26584, OMIM:611441, RefSeq Protein:NP_036278, RefSeq RNA:NM_012146, UCSC Genome Browser:NM_012146, UniProtKB:O43812, UniProtKB:Q96PT3 No chr10 +PA27537 26582 HGNC:3081 double homeobox 3 DUX3 double homeobox, 3 Yes No GenAtlas:DUX3, GeneCard:DUX3, HGNC:HGNC:3081, ModBase:Q96PT4, NCBI Gene:26582, OMIM:611443, RefSeq Protein:NP_036280, RefSeq RNA:NM_012148, UCSC Genome Browser:NM_012148, UniProtKB:Q96PT4 No +PA27538 100288687, 22947 HGNC:50800 ENSG00000227476, ENSG00000227904, ENSG00000228114, ENSG00000228188, ENSG00000258389 double homeobox 4 DUX4 Yes No Ensembl:ENSG00000227476, Ensembl:ENSG00000227904, Ensembl:ENSG00000228114, Ensembl:ENSG00000228188, Ensembl:ENSG00000258389, GenAtlas:DUX4, GeneCard:DUX4, HGNC:HGNC:50800, HumanCyc Gene:HS11245, ModBase:Q9UBX2, NCBI Gene:100288687, NCBI Gene:22947, OMIM:606009, RefSeq DNA:NT_016354, RefSeq Protein:NP_149418, RefSeq RNA:NM_033178, UCSC Genome Browser:NM_033178 No chr4 191005470 191006849 190084412 190085696 +PA165663706 728410 HGNC:37267 ENSG00000227476, ENSG00000227904, ENSG00000228114, ENSG00000228188, ENSG00000259128 double homeobox 4 like 2 DUX4L2 Yes No Ensembl:ENSG00000227476, Ensembl:ENSG00000227904, Ensembl:ENSG00000228114, Ensembl:ENSG00000228188, Ensembl:ENSG00000259128, GeneCard:DUX4L2, HGNC:HGNC:37267, NCBI Gene:728410, RefSeq DNA:NT_016354, RefSeq Protein:NP_001120858, RefSeq RNA:NM_001127386 No chr4 191012063 191013442 190091005 190092289 +PA165663763 653548 HGNC:38688 ENSG00000281627 double homeobox 4 like 3 DUX4L3 Yes No Ensembl:ENSG00000281627, GeneCard:DUX4L3, HGNC:HGNC:38688, NCBI Gene:653548, RefSeq DNA:NT_016354, RefSeq Protein:NP_001157939, RefSeq Protein:XP_933116, RefSeq RNA:NM_001164467, RefSeq RNA:XM_928023 No chr4 191008763 191010142 190087705 190088989 +PA165663770 441056 HGNC:38686 ENSG00000258834 double homeobox 4 like 4 DUX4L4 Yes No Ensembl:ENSG00000258834, GeneCard:DUX4L4, HGNC:HGNC:38686, NCBI Gene:441056, RefSeq DNA:NT_016354, RefSeq Protein:NP_001170847, RefSeq Protein:XP_496731, RefSeq RNA:NM_001177376, RefSeq RNA:XM_496731 No chr4 191002176 191003549 190081118 190082396 +PA165663829 653545 HGNC:38689 ENSG00000280799 double homeobox 4 like 5 DUX4L5 Yes No Ensembl:ENSG00000280799, GeneCard:DUX4L5, HGNC:HGNC:38689, NCBI Gene:653545, RefSeq DNA:NT_016354, RefSeq Protein:NP_001120861, RefSeq RNA:NM_001127389 No chr4 190998876 191000255 190077818 190079102 +PA165663878 653544 HGNC:37265 ENSG00000281058 double homeobox 4 like 6 DUX4L6 Yes No Ensembl:ENSG00000281058, GeneCard:DUX4L6, HGNC:HGNC:37265, NCBI Gene:653544, RefSeq DNA:NT_016354, RefSeq Protein:NP_001120860, RefSeq RNA:NM_001127388 No chr4 190995583 190996962 190074525 190075809 +PA165663899 653543 HGNC:37266 ENSG00000281652 double homeobox 4 like 7 DUX4L7 Yes No Ensembl:ENSG00000281652, GeneCard:DUX4L7, HGNC:HGNC:37266, NCBI Gene:653543, RefSeq DNA:NT_016354, RefSeq Protein:NP_001120859, RefSeq RNA:NM_001127387 No chr4 190992290 190993669 190071232 190072516 +PA27539 26581 HGNC:3083 double homeobox 5 DUX5 double homeobox, 5 Yes No GenAtlas:DUX5, GeneCard:DUX5, HGNC:HGNC:3083, ModBase:Q96PT3, NCBI Gene:26581, OMIM:611444, RefSeq Protein:NP_036281, RefSeq RNA:NM_012149, UCSC Genome Browser:NM_012149, UniProtKB:Q96PT3 No +PA142671924 503835 HGNC:32179 ENSG00000258873 double homeobox A DUXA Yes No Ensembl:ENSG00000258873, GeneCard:DUXA, HGNC:HGNC:32179, ModBase:A6NLW8, NCBI Gene:503835, OMIM:611168, RefSeq DNA:NT_011109, RefSeq Protein:NP_001012747, RefSeq RNA:NM_001012729, UniProtKB:A6NLW8 No chr19 57663094 57678856 57151726 57167488 +PA142671925 503630 HGNC:32180 ENSG00000259056 double homeobox A pseudogene 1 DUXAP1 Yes No Ensembl:ENSG00000259056, GeneCard:DUXAP1, HGNC:HGNC:32180, NCBI Gene:503630, RefSeq DNA:NG_004841, RefSeq DNA:NT_022184 No chr2 84977851 84978385 84750727 84751261 +PA142671934 503639 HGNC:32189 ENSG00000244306 double homeobox A pseudogene 10 DUXAP10 Yes No Ensembl:ENSG00000244306, GeneCard:DUXAP10, HGNC:HGNC:32189, NCBI Gene:503639, RefSeq DNA:NG_004838, RefSeq DNA:NT_026437 No chr14 19691736 19694003 19294785 19337674 +PA142671926 503631 HGNC:32181 ENSG00000254063 double homeobox A pseudogene 2 DUXAP2 Yes No Ensembl:ENSG00000254063, GeneCard:DUXAP2, HGNC:HGNC:32181, NCBI Gene:503631, RefSeq DNA:NG_004842, RefSeq DNA:NT_008046 No chr8 102378566 102379275 101366338 101367047 +PA142671927 503632 HGNC:32182 ENSG00000270552 double homeobox A pseudogene 3 DUXAP3 Yes No Ensembl:ENSG00000270552, GeneCard:DUXAP3, HGNC:HGNC:32182, NCBI Gene:503632, RefSeq DNA:NG_007339, RefSeq DNA:NT_033985 No chr10 43240720 43244152 42745272 42748704 +PA142671928 503633 HGNC:32183 ENSG00000270258 double homeobox A pseudogene 4 DUXAP4 Yes No Ensembl:ENSG00000270258, GeneCard:DUXAP4, HGNC:HGNC:32183, NCBI Gene:503633, RefSeq DNA:NG_004843, RefSeq DNA:NT_033985 No chr10 45551062 45552674 45055614 45057226 +PA142671929 503634 HGNC:32184 ENSG00000255377 double homeobox A pseudogene 5 DUXAP5 Yes No Ensembl:ENSG00000255377, GeneCard:DUXAP5, HGNC:HGNC:32184, NCBI Gene:503634, RefSeq DNA:NG_004844, RefSeq DNA:NT_033899 No chr11 119314947 119316264 119444237 119445554 +PA142671930 503635 HGNC:32185 ENSG00000258726 double homeobox A pseudogene 6 DUXAP6 Yes No Ensembl:ENSG00000258726, GeneCard:DUXAP6, HGNC:HGNC:32185, NCBI Gene:503635, RefSeq DNA:NG_004845, RefSeq DNA:NT_010274 No chr15 92824668 92825704 92281438 92282474 +PA142671931 503636 HGNC:32186 ENSG00000232136 double homeobox A pseudogene 7 DUXAP7 Yes No Ensembl:ENSG00000232136, GeneCard:DUXAP7, HGNC:HGNC:32186, NCBI Gene:503636, RefSeq DNA:NG_004846, RefSeq DNA:NT_011387 No chr20 18622954 18624291 18642310 18643647 +PA142671932 503637 HGNC:32187 ENSG00000271672 double homeobox A pseudogene 8 DUXAP8 Yes No Ensembl:ENSG00000271672, GeneCard:DUXAP8, HGNC:HGNC:32187, NCBI Gene:503637, RefSeq DNA:NG_004840, RefSeq DNA:NT_028395 No chr22 16149173 16151440 15784954 15827434 +PA142671933 503638 HGNC:32188 ENSG00000225210 double homeobox A pseudogene 9 DUXAP9 Yes No Ensembl:ENSG00000225210, GeneCard:DUXAP9, HGNC:HGNC:32188, NCBI Gene:503638, RefSeq DNA:NG_004839, RefSeq DNA:NT_026437 No chr14 19881382 19883648 19104058 19106298 +PA162384135 100033411 HGNC:33345 ENSG00000282757 double homeobox B DUXB Yes No Ensembl:ENSG00000282757, GeneCard:DUXB, HGNC:HGNC:33345, NCBI Gene:100033411 No chr16 +PA27540 1855 HGNC:3084 ENSG00000107404 dishevelled segment polarity protein 1 DVL1 dishevelled, dsh homolog 1 (Drosophila) Yes No Comparative Toxicogenomics Database:1855, Ensembl:ENSG00000107404, GenAtlas:DVL1, GeneCard:DVL1, HGNC:HGNC:3084, HumanCyc Gene:HS02996, ModBase:O14640, NCBI Gene:1855, OMIM:601365, RefSeq DNA:NG_008048, RefSeq DNA:NT_004350, RefSeq Protein:NP_004412, RefSeq RNA:NM_004421, UCSC Genome Browser:NM_004421, UniProtKB:O14640 No chr1 1270658 1284509 1335278 1349142 +PA27541 8215 HGNC:3085 dishevelled, dsh homolog 1 (Drosophila) pseudogene 1 DVL1P1 DVL-22 Yes No GenAtlas:DVL1L1, GeneCard:DVL1L1, HGNC:HGNC:3085, ModBase:P54792, NCBI Gene:8215, OMIM:601225, RefSeq DNA:NG_009878, RefSeq DNA:NT_011519 No chr22 19240644 19240992 19253121 19253469 +PA27542 1856 HGNC:3086 ENSG00000004975 dishevelled segment polarity protein 2 DVL2 dishevelled, dsh homolog 2 (Drosophila) Yes Yes Comparative Toxicogenomics Database:1856, Ensembl:ENSG00000004975, GenAtlas:DVL2, GeneCard:DVL2, HGNC:HGNC:3086, HumanCyc Gene:HS00121, ModBase:O14641, NCBI Gene:1856, OMIM:602151, RefSeq DNA:NT_010718, RefSeq Protein:NP_004413, RefSeq RNA:NM_004422, UCSC Genome Browser:NM_004422, UniProtKB:O14641 No chr17 7128661 7137867 7225342 7234548 +PA27543 1857 HGNC:3087 ENSG00000161202 dishevelled segment polarity protein 3 DVL3 dishevelled, dsh homolog 3 (Drosophila) KIAA0208 Yes No Comparative Toxicogenomics Database:1857, Ensembl:ENSG00000161202, GenAtlas:DVL3, GeneCard:DVL3, HGNC:HGNC:3087, HumanCyc Gene:HS08574, ModBase:Q92997, NCBI Gene:1857, OMIM:601368, RefSeq DNA:NT_005612, RefSeq Protein:NP_004414, RefSeq RNA:NM_004423, UCSC Genome Browser:NM_004423, UniProtKB:Q92997 No chr3 183873099 183891314 184155311 184173614 +PA27458 1797 HGNC:2992 ENSG00000204348, ENSG00000206346, ENSG00000224313, ENSG00000225682, ENSG00000234798 decapping exoribonuclease DXO dom-3 homolog Z (C. elegans) DOM3L, DOM3Z Yes No Comparative Toxicogenomics Database:1797, Ensembl:ENSG00000204348, Ensembl:ENSG00000206346, Ensembl:ENSG00000224313, Ensembl:ENSG00000225682, Ensembl:ENSG00000234798, GenAtlas:DOM3Z, GeneCard:DOM3Z, HGNC:HGNC:2992, HumanCyc Gene:HS15677, NCBI Gene:1797, OMIM:605996, RefSeq DNA:NG_000013, RefSeq DNA:NG_004658, RefSeq DNA:NG_005163, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_005501, RefSeq RNA:NM_005510, UCSC Genome Browser:NM_005510, UniProtKB:O77932 No chr6 31937588 31940032 31969811 31972290 +PA134972260 143241 HGNC:23460 ENSG00000170788 DPY30 domain containing 1 DYDC1 DPY30D1, bA36D19.5 Yes No Ensembl:ENSG00000170788, GeneCard:DYDC1, HGNC:HGNC:23460, HumanCyc Gene:HS15914, NCBI Gene:143241, RefSeq DNA:NT_030059, RefSeq Protein:NP_620167, RefSeq RNA:NM_138812, UniProtKB:Q8WWB3 No chr10 82095858 82116523 80336013 80356787 +PA134988160 84332 HGNC:23468 ENSG00000133665 DPY30 domain containing 2 DYDC2 MGC16186, bA36D19.6 Yes No Ensembl:ENSG00000133665, GeneCard:DYDC2, HGNC:HGNC:23468, HumanCyc Gene:HS05778, ModBase:Q96IM9, NCBI Gene:84332, RefSeq DNA:NT_030059, RefSeq Protein:NP_115748, RefSeq RNA:NM_032372, UniProtKB:Q96IM9 No chr10 82104501 82127829 80344745 80368073 +PA134879547 54808 HGNC:21317 ENSG00000141627 dymeclin DYM DMC, FLJ20071, SMC Yes No Comparative Toxicogenomics Database:54808, Ensembl:ENSG00000141627, GeneCard:DYM, HGNC:HGNC:21317, HumanCyc Gene:HS13901, ModBase:Q9NPU7, NCBI Gene:54808, OMIM:223800, OMIM:607326, OMIM:607461, RefSeq DNA:NG_009239, RefSeq DNA:NT_010966, RefSeq Protein:NP_060123, RefSeq RNA:NM_017653, UniProtKB:Q7RTS9 No chr18 46567846 46987172 49041474 49460709 +PA134946407 284254 HGNC:26808 ENSG00000178690 dynactin associated protein DYNAP C18orf26, FLJ39106 Yes No Ensembl:ENSG00000178690, GeneCard:C18orf26, HGNC:HGNC:26808, HumanCyc Gene:HS17105, ModBase:Q8N1N2, NCBI Gene:284254, RefSeq DNA:NT_025028, RefSeq Protein:NP_775900, RefSeq RNA:NM_173629, UniProtKB:Q8N1N2 No chr18 52258390 52266724 54532713 54599544 +PA27432 1778 HGNC:2961 ENSG00000197102 dynein cytoplasmic 1 heavy chain 1 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 CMT2O, DHC1, DNCH1, DNCL, DNECL, Dnchc1, HL-3, p22 Yes No Comparative Toxicogenomics Database:1778, Ensembl:ENSG00000197102, GenAtlas:DYNC1H1, GeneCard:DYNC1H1, HGNC:HGNC:2961, ModBase:Q14204, NCBI Gene:1778, OMIM:600112, RefSeq DNA:NG_008777, RefSeq DNA:NT_026437, RefSeq Protein:NP_001367, RefSeq RNA:NM_001376, UCSC Genome Browser:NM_001376, UniProtKB:Q14204 No chr14 102430865 102517135 101964528 102050798 +PA27434 1780 HGNC:2963 ENSG00000158560 dynein cytoplasmic 1 intermediate chain 1 DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1 DNCI1, DNCIC1 Yes No Comparative Toxicogenomics Database:1780, Ensembl:ENSG00000158560, GenAtlas:DYNC1I1, GeneCard:DYNC1I1, HGNC:HGNC:2963, HumanCyc Gene:HS08309, ModBase:O14576, NCBI Gene:1780, OMIM:603772, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001129028, RefSeq Protein:NP_001129029, RefSeq Protein:NP_004402, RefSeq RNA:NM_001135556, RefSeq RNA:NM_001135557, RefSeq RNA:NM_004411, UCSC Genome Browser:NM_004411, UniProtKB:A4D1I7, UniProtKB:O14576, UniProtKB:Q8N542 No chr7 95401818 95739634 95772506 96110322 +PA27435 1781 HGNC:2964 ENSG00000077380 dynein cytoplasmic 1 intermediate chain 2 DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2 DIC74, DNCI2 Yes No Comparative Toxicogenomics Database:1781, Ensembl:ENSG00000077380, GenAtlas:DYNC1I2, GeneCard:DYNC1I2, HGNC:HGNC:2964, HumanCyc Gene:HS01244, ModBase:Q9NT58, NCBI Gene:1781, OMIM:603331, RefSeq DNA:NT_005403, RefSeq Protein:NP_001369, RefSeq RNA:NM_001378, UCSC Genome Browser:NM_001378, UniProtKB:Q13409 No chr2 172543919 172606668 171687409 171750158 +PA38670 51143 HGNC:18745 ENSG00000144635 dynein cytoplasmic 1 light intermediate chain 1 DYNC1LI1 dynein, cytoplasmic 1, light intermediate chain 1 DNCLI1 Yes No Comparative Toxicogenomics Database:51143, Ensembl:ENSG00000144635, GenAtlas:DYNC1LI1, GeneCard:DYNC1LI1, HGNC:HGNC:18745, HumanCyc Gene:HS07184, ModBase:Q9Y6G9, NCBI Gene:51143, RefSeq DNA:NT_022517, RefSeq Protein:NP_057225, RefSeq RNA:NM_016141, UCSC Genome Browser:NM_016141, UniProtKB:Q9Y6G9 No chr3 32567463 32612373 32525971 32570874 +PA27438 1783 HGNC:2966 ENSG00000135720 dynein cytoplasmic 1 light intermediate chain 2 DYNC1LI2 dynein, cytoplasmic 1, light intermediate chain 2 DNCLI2 Yes No Comparative Toxicogenomics Database:1783, Ensembl:ENSG00000135720, GenAtlas:DYNC1LI2, GeneCard:DYNC1LI2, HGNC:HGNC:2966, HumanCyc Gene:HS06053, ModBase:O43237, NCBI Gene:1783, OMIM:611406, RefSeq DNA:NT_010498, RefSeq Protein:NP_006132, RefSeq RNA:NM_006141, UCSC Genome Browser:NM_006141, UniProtKB:O43237, UniProtKB:Q63HJ8 No chr16 66754796 66785526 66720893 66751828 +PA27433 79659 HGNC:2962 ENSG00000187240 dynein cytoplasmic 2 heavy chain 1 DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 DHC1b, DHC2, DNCH2, DYH1B, hdhc11 Yes Yes Ensembl:ENSG00000187240, GenAtlas:DYNC2H1, GeneCard:DYNC2H1, HGNC:HGNC:2962, NCBI Gene:79659, OMIM:263510, OMIM:603297, OMIM:613091, RefSeq DNA:NG_016423, RefSeq DNA:NT_033899, RefSeq Protein:NP_001073932, RefSeq Protein:NP_001368, RefSeq RNA:NM_001080463, RefSeq RNA:NM_001377, UCSC Genome Browser:NM_001377 No chr11 102980160 103350591 103109431 103479863 +PA166352476 55112 HGNC:21862 dynein 2 intermediate chain 1 DYNC2I1 WDR60 CFAP163, DIC6, FAP163, FLJ10300 Yes No HGNC:HGNC:21862, NCBI Gene:55112 No 0 0 0 0 +PA166352477 89891 HGNC:28296 dynein 2 intermediate chain 2 DYNC2I2 WDR34 CFAP133, DIC5, FAP133, MGC20486, bA216B9.3 Yes No HGNC:HGNC:28296, NCBI Gene:89891 No 0 0 0 0 +PA142671919 51626 HGNC:24595 ENSG00000138036 dynein cytoplasmic 2 light intermediate chain 1 DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1 CGI-60, D2LIC, DKFZP564A033, LIC3 Yes No Comparative Toxicogenomics Database:51626, Ensembl:ENSG00000138036, GeneCard:DYNC2LI1, HGNC:HGNC:24595, HumanCyc Gene:HS13707, ModBase:Q9Y3S9, NCBI Gene:51626, RefSeq DNA:NT_022184, RefSeq Protein:NP_001012683, RefSeq Protein:NP_001180393, RefSeq Protein:NP_056337, RefSeq Protein:NP_057092, RefSeq RNA:NM_001012665, RefSeq RNA:NM_001193464, RefSeq RNA:NM_015522, RefSeq RNA:NM_016008, UniProtKB:Q8TCX1 No chr2 44001178 44055095 43774039 43828492 +PA134972261 8655 HGNC:15476 ENSG00000088986 dynein light chain LC8-type 1 DYNLL1 dynein, light chain, LC8-type 1 DLC1, DLC8, DNCL1, LC8, PIN, hdlc1 Yes No Comparative Toxicogenomics Database:8655, Ensembl:ENSG00000088986, GeneCard:DYNLL1, HGNC:HGNC:15476, HumanCyc Gene:HS01620, ModBase:P63167, NCBI Gene:8655, OMIM:601562, RefSeq DNA:NT_009775, RefSeq Protein:NP_001032583, RefSeq Protein:NP_001032584, RefSeq Protein:NP_003737, RefSeq RNA:NM_001037494, RefSeq RNA:NM_001037495, RefSeq RNA:NM_003746, UniProtKB:P63167, UniProtKB:Q6FGH9 No chr12 120907660 120936298 120469857 120498495 +PA134885089 246720 HGNC:20723 ENSG00000205579 dynein, light chain, LC8-type 1 pseudogene 1 DYNLL1P1 Yes No Ensembl:ENSG00000205579, GeneCard:DYNLL1P1, HGNC:HGNC:20723, NCBI Gene:246720, RefSeq DNA:NG_001584, RefSeq DNA:NT_026437 No chr14 81712354 81713015 81246010 81246671 +PA134909075 731308 HGNC:20724 ENSG00000258605 dynein, light chain, LC8-type 1 pseudogene 2 DYNLL1P2 Yes No Ensembl:ENSG00000258605, GeneCard:DYNLL1P2, HGNC:HGNC:20724, NCBI Gene:731308 No chr14 81879314 81879583 81412859 81413439 +PA142671920 140735 HGNC:24596 ENSG00000264364 dynein light chain LC8-type 2 DYNLL2 """dynein, light chain, LC8-type 2"", ""radial spoke 22 homolog (Chlamydomonas)""" DNCL1B, Dlc2, MGC17810, RSPH22 Yes No Comparative Toxicogenomics Database:140735, Ensembl:ENSG00000264364, GeneCard:DYNLL2, HGNC:HGNC:24596, HumanCyc Gene:HS04472, ModBase:Q96FJ2, NCBI Gene:140735, OMIM:608942, RefSeq DNA:NT_010783, RefSeq Protein:NP_542408, RefSeq RNA:NM_080677, UniProtKB:Q96FJ2 No chr17 56160780 56167618 58083419 58090257 +PA27436 83658 HGNC:15468 ENSG00000125971 dynein light chain roadblock-type 1 DYNLRB1 """dynein, light chain, roadblock-type 1"", ""roadblock domain containing 1""" DNCL2A, DNLC2A, ROBLD1 Yes No Comparative Toxicogenomics Database:83658, Ensembl:ENSG00000125971, GenAtlas:DYNLRB1, GeneCard:DYNLRB1, HGNC:HGNC:15468, HumanCyc Gene:HS13190, ModBase:Q9NP97, NCBI Gene:83658, OMIM:607167, RefSeq DNA:NT_011362, RefSeq Protein:NP_054902, RefSeq RNA:NM_014183, UCSC Genome Browser:NM_014183, UniProtKB:Q9NP97 No chr20 33104193 33128762 34516384 34540958 +PA27437 83657 HGNC:15467 ENSG00000168589 dynein light chain roadblock-type 2 DYNLRB2 """dynein, light chain, roadblock-type 2"", ""roadblock domain containing 2""" DNCL2B, DNLC2B, ROBLD2 Yes No Comparative Toxicogenomics Database:83657, Ensembl:ENSG00000168589, GenAtlas:DYNLRB2, GeneCard:DYNLRB2, HGNC:HGNC:15467, HumanCyc Gene:HS15687, ModBase:Q8TF09, NCBI Gene:83657, OMIM:607168, RefSeq DNA:NT_010498, RefSeq Protein:NP_570967, RefSeq RNA:NM_130897, UCSC Genome Browser:NM_130897, UniProtKB:Q8TF09 No chr16 80574854 80584713 80540259 80550811 +PA36416 6993 HGNC:11697 ENSG00000146425 dynein light chain Tctex-type 1 DYNLT1 dynein, light chain, Tctex-type 1 TCTEL1, TCTEX1, Tctex-1 Yes No Comparative Toxicogenomics Database:6993, Ensembl:ENSG00000146425, GenAtlas:DYNLT1, GeneCard:DYNLT1, HGNC:HGNC:11697, HumanCyc Gene:HS07349, ModBase:P63172, NCBI Gene:6993, OMIM:601554, RefSeq DNA:NT_025741, RefSeq Protein:NP_006510, RefSeq RNA:NM_006519, UCSC Genome Browser:NM_006519, UniProtKB:P63172, UniProtKB:Q5VTU4 No chr6 159057506 159065804 158636474 158644786 +PA166352478 6991 HGNC:11695 dynein light chain Tctex-type 2 DYNLT2 TCTE3, Tctex1 domain containing 3 TCTEX1D3, TCTEX2, Tctex4, oda12 Yes No HGNC:HGNC:11695, NCBI Gene:6991 No 0 0 0 0 +PA166352479 255758 HGNC:28482 dynein light chain Tctex-type 2B DYNLT2B TCTEX1D2 MGC33212 Yes No HGNC:HGNC:28482, NCBI Gene:255758 No 0 0 0 0 +PA36414 6990 HGNC:11694 ENSG00000165169 dynein light chain Tctex-type 3 DYNLT3 dynein, light chain, Tctex-type 3 TCTE1L, TCTEX1L Yes No Ensembl:ENSG00000165169, GenAtlas:DYNLT3, GeneCard:DYNLT3, HGNC:HGNC:11694, HumanCyc Gene:HS09193, ModBase:P51808, NCBI Gene:6990, OMIM:300302, RefSeq DNA:NG_016797, RefSeq DNA:NT_079573, RefSeq Protein:NP_006511, RefSeq RNA:NM_006520, UCSC Genome Browser:NM_006520, UniProtKB:P51808, UniProtKB:Q6ICS3 No chrX 37698089 37706889 37838836 37847636 +PA38166 170554 HGNC:16571 ENSG00000232241 dynein, light chain, Tctex-type 3 pseudogene 1 DYNLT3P1 dJ531H16.2 Yes No Ensembl:ENSG00000232241, GenAtlas:TCTE1P, GeneCard:DYNLT3P1, HGNC:HGNC:16571, NCBI Gene:170554, RefSeq DNA:NG_001059, RefSeq DNA:NT_011387 No chr20 17459730 17460076 17478887 17479470 +PA166352480 343521 HGNC:32315 dynein light chain Tctex-type 4 DYNLT4 TCTEX1D4, novel Tctex-1 family domain-containing protein Yes No HGNC:HGNC:32315, NCBI Gene:343521 No 0 0 0 0 +PA166352481 200132 HGNC:26882 dynein light chain Tctex-type family member 5 DYNLT5 TCTEX1D1 FLJ40873 Yes No HGNC:HGNC:26882, NCBI Gene:200132 No 0 0 0 0 +PA27545 1859 HGNC:3091 ENSG00000157540 dual specificity tyrosine phosphorylation regulated kinase 1A DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A DYRK, DYRK1, MNBH Yes No Comparative Toxicogenomics Database:1859, Ensembl:ENSG00000157540, GenAtlas:DYRK1A, GeneCard:DYRK1A, HGNC:HGNC:3091, HumanCyc Gene:HS08219, ModBase:Q13627, NCBI Gene:1859, OMIM:600855, RefSeq DNA:NG_009366, RefSeq DNA:NT_011512, RefSeq Protein:NP_001387, RefSeq Protein:NP_567824, RefSeq Protein:NP_569120, RefSeq Protein:NP_569121, RefSeq Protein:NP_569122, RefSeq RNA:NM_001396, RefSeq RNA:NM_101395, RefSeq RNA:NM_130436, RefSeq RNA:NM_130437, RefSeq RNA:NM_130438, UCSC Genome Browser:NM_001396, UniProtKB:Q13627 No chr21 38739859 38887679 37365790 37515376 +PA27549 9149 HGNC:3092 ENSG00000105204 dual specificity tyrosine phosphorylation regulated kinase 1B DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B, minibrain-related kinase MIRK Yes No Comparative Toxicogenomics Database:9149, Ensembl:ENSG00000105204, GenAtlas:DYRK1B, GeneCard:DYRK1B, HGNC:HGNC:3092, HumanCyc Gene:HS02690, ModBase:Q9Y463, NCBI Gene:9149, OMIM:604556, RefSeq DNA:NT_011109, RefSeq Protein:NP_004705, RefSeq Protein:NP_006474, RefSeq Protein:NP_006475, RefSeq RNA:NM_004714, RefSeq RNA:NM_006483, RefSeq RNA:NM_006484, UCSC Genome Browser:NM_004714, UniProtKB:Q9Y463 No chr19 40315990 40324841 39825347 39834233 +PA27550 8445 HGNC:3093 ENSG00000127334 dual specificity tyrosine phosphorylation regulated kinase 2 DYRK2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 Yes No Comparative Toxicogenomics Database:8445, Ensembl:ENSG00000127334, GenAtlas:DYRK2, GeneCard:DYRK2, HGNC:HGNC:3093, HumanCyc Gene:HS05086, ModBase:Q92630, NCBI Gene:8445, OMIM:603496, RefSeq DNA:NT_029419, RefSeq Protein:NP_003574, RefSeq Protein:NP_006473, RefSeq RNA:NM_003583, RefSeq RNA:NM_006482, UCSC Genome Browser:NM_003583, UniProtKB:Q92630 No chr12 68042512 68056444 67648732 67665405 +PA27551 8444 HGNC:3094 ENSG00000143479 dual specificity tyrosine phosphorylation regulated kinase 3 DYRK3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3, dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5, protein kinase Dyrk3, regulatory erythroid kinase RED, REDK, hYAK3-2 Yes No Ensembl:ENSG00000143479, GenAtlas:DYRK3, GeneCard:DYRK3, HGNC:HGNC:3094, HumanCyc Gene:HS07063, ModBase:O43781, NCBI Gene:8444, OMIM:603497, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004023, RefSeq Protein:NP_003573, RefSeq RNA:NM_001004023, RefSeq RNA:NM_003582, UCSC Genome Browser:NM_003582, UniProtKB:O43781 No chr1 206808881 206823229 206635536 206655158 +PA27552 8798 HGNC:3095 ENSG00000010219 dual specificity tyrosine phosphorylation regulated kinase 4 DYRK4 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 Yes No Ensembl:ENSG00000010219, GenAtlas:DYRK4, GeneCard:DYRK4, HGNC:HGNC:3095, HumanCyc Gene:HS00275, ModBase:Q9NR20, NCBI Gene:8798, OMIM:609181, RefSeq DNA:NT_009759, RefSeq Protein:NP_003836, RefSeq RNA:NM_003845, UCSC Genome Browser:NM_003845, UniProtKB:Q9NR20 No chr12 4671375 4723041 4590072 4613888 +PA27554 8291 HGNC:3097 ENSG00000135636 dysferlin DYSF """dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)"", ""fer-1-like family member 1""" FER1L1, LGMD2B Yes No Comparative Toxicogenomics Database:8291, Ensembl:ENSG00000135636, GenAtlas:DYSF, GeneCard:DYSF, HGNC:HGNC:3097, HumanCyc Gene:HS06042, ModBase:Q0H395, NCBI Gene:8291, OMIM:253601, OMIM:254130, OMIM:603009, OMIM:606768, RefSeq DNA:NG_008694, RefSeq DNA:NT_022184, RefSeq Protein:NP_001123927, RefSeq Protein:NP_001124448, RefSeq Protein:NP_001124449, RefSeq Protein:NP_001124450, RefSeq Protein:NP_001124451, RefSeq Protein:NP_001124452, RefSeq Protein:NP_001124453, RefSeq Protein:NP_001124454, RefSeq Protein:NP_001124455, RefSeq Protein:NP_001124456, RefSeq Protein:NP_001124457, RefSeq Protein:NP_001124458, RefSeq Protein:NP_001124459, RefSeq Protein:NP_003485, RefSeq RNA:NM_001130455, RefSeq RNA:NM_001130976, RefSeq RNA:NM_001130977, RefSeq RNA:NM_001130978, RefSeq RNA:NM_001130979, RefSeq RNA:NM_001130980, RefSeq RNA:NM_001130981, RefSeq RNA:NM_001130982, RefSeq RNA:NM_001130983, RefSeq RNA:NM_001130984, RefSeq RNA:NM_001130985, RefSeq RNA:NM_001130986, RefSeq RNA:NM_001130987, RefSeq RNA:NM_003494, UCSC Genome Browser:NM_003494, UniProtKB:O75923 No chr2 71680347 71913895 71453155 71686763 +PA162384136 391475 HGNC:23279 ENSG00000232125 dystrotelin DYTN Yes No Ensembl:ENSG00000232125, GeneCard:DYTN, HGNC:HGNC:23279, ModBase:A2CJ06, NCBI Gene:391475, RefSeq DNA:NT_005403, RefSeq Protein:NP_001087199, RefSeq RNA:NM_001093730, UniProtKB:A2CJ06 No chr2 207516345 207583120 206651621 206718396 +PA25660 55184 HGNC:15858 ENSG00000089091 double zinc ribbon and ankyrin repeat domains 1 DZANK1 ankyrin repeat domain 64 ANKRD64, C20orf12, C20orf84, FLJ10600, FLJ30892, bA189K21.8, dJ568F9.2 Yes No Ensembl:ENSG00000089091, GenAtlas:C20orf12, GeneCard:C20orf12, HGNC:HGNC:15858, HumanCyc Gene:HS12319, ModBase:Q9H442, NCBI Gene:55184, RefSeq DNA:NT_011387, RefSeq Protein:NP_001092877, RefSeq RNA:NM_001099407, UCSC Genome Browser:NM_018152, UniProtKB:A1L3Z8, UniProtKB:B7ZLZ4, UniProtKB:Q9NVP4 No chr20 18364011 18447995 18383367 18467185 +PA134960194 22873 HGNC:20908 ENSG00000134874 DAZ interacting zinc finger protein 1 DZIP1 DAZ interacting protein 1 DZIP, KIAA0996 Yes No Comparative Toxicogenomics Database:22873, Ensembl:ENSG00000134874, GeneCard:DZIP1, HGNC:HGNC:20908, HumanCyc Gene:HS13547, ModBase:Q86YF9, NCBI Gene:22873, OMIM:608671, RefSeq DNA:NT_009952, RefSeq Protein:NP_055749, RefSeq Protein:NP_945319, RefSeq RNA:NM_014934, RefSeq RNA:NM_198968, UniProtKB:Q86YF9 No chr13 96230456 96296960 95578202 95644706 +PA134951988 199221 HGNC:26551 ENSG00000158163 DAZ interacting zinc finger protein 1 like DZIP1L DAZ interacting protein 1-like, DAZ interacting zinc finger protein 1-like DZIP2, FLJ32844 Yes No Ensembl:ENSG00000158163, GeneCard:DZIP1L, HGNC:HGNC:26551, HumanCyc Gene:HS14702, ModBase:Q8IYY4, NCBI Gene:199221, RefSeq DNA:NT_005612, RefSeq Protein:NP_001164009, RefSeq Protein:NP_775814, RefSeq RNA:NM_001170538, RefSeq RNA:NM_173543, UniProtKB:C9JUG5, UniProtKB:Q8IYY4 No chr3 137780827 137834451 138061985 138115862 +PA162384137 9666 HGNC:30938 ENSG00000198919 DAZ interacting zinc finger protein 3 DZIP3 """DAZ interacting protein 3, zinc finger"", ""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66""" PPP1R66, hRUL138 Yes No Ensembl:ENSG00000198919, GeneCard:DZIP3, HGNC:HGNC:30938, ModBase:Q8IWI0, ModBase:Q96RS9, NCBI Gene:9666, OMIM:608672, RefSeq DNA:NT_005612, RefSeq Protein:NP_055463, RefSeq RNA:NM_014648, UniProtKB:Q86Y13 No chr3 108308337 108413693 108589490 108694846 +PA152 1869 HGNC:3113 ENSG00000101412 E2F transcription factor 1 E2F1 RBBP3, RBP3 Yes No Comparative Toxicogenomics Database:1869, Ensembl:ENSG00000101412, GenAtlas:E2F1, GeneCard:E2F1, HGNC:HGNC:3113, HumanCyc Gene:HS02261, ModBase:Q01094, NCBI Gene:1869, OMIM:189971, RefSeq DNA:NT_011362, RefSeq Protein:NP_005216, RefSeq RNA:NM_005225, UCSC Genome Browser:NM_005225, UniProtKB:Q01094 No chr20 32263292 32274210 33675486 33686404 +PA27572 1870 HGNC:3114 ENSG00000007968 E2F transcription factor 2 E2F2 E2F-2 Yes No Comparative Toxicogenomics Database:1870, Ensembl:ENSG00000007968, GenAtlas:E2F2, GeneCard:E2F2, HGNC:HGNC:3114, HumanCyc Gene:HS00226, ModBase:Q14209, NCBI Gene:1870, OMIM:600426, RefSeq DNA:NT_004610, RefSeq Protein:NP_004082, RefSeq RNA:NM_004091, UCSC Genome Browser:NM_004091, UniProtKB:Q14209 No chr1 23832920 23857712 23505696 23531266 +PA27573 1871 HGNC:3115 ENSG00000112242 E2F transcription factor 3 E2F3 Yes No Comparative Toxicogenomics Database:1871, Ensembl:ENSG00000112242, GenAtlas:E2F3, GeneCard:E2F3, HGNC:HGNC:3115, HumanCyc Gene:HS03540, ModBase:O00716, NCBI Gene:1871, OMIM:600427, RefSeq DNA:NT_007592, RefSeq Protein:NP_001940, RefSeq RNA:NM_001949, UCSC Genome Browser:NM_001949, UniProtKB:O00716, UniProtKB:Q499G5 No chr6 20402137 20493945 20353285 20493714 +PA27574 1872 HGNC:3116 ENSG00000267046 E2F transcription factor 3 pseudogene 1 E2F3P1 Yes No Ensembl:ENSG00000267046, GenAtlas:E2F3P1, GeneCard:E2F3P1, HGNC:HGNC:3116, NCBI Gene:1872, RefSeq DNA:NG_005634, RefSeq DNA:NT_010799 No chr17 33817051 33821400 35490032 35494381 +PA27575 100420003 HGNC:3117 ENSG00000203435 E2F transcription factor 3 pseudogene 2 E2F3P2 Yes No Ensembl:ENSG00000203435, GenAtlas:E2F3P2, GeneCard:E2F3P2, HGNC:HGNC:3117, NCBI Gene:100420003 No chr2 196855723 196860418 195990999 195995694 +PA27576 1874 HGNC:3118 ENSG00000205250 E2F transcription factor 4 E2F4 E2F transcription factor 4, p107/p130-binding E2F-4 Yes No Comparative Toxicogenomics Database:1874, Ensembl:ENSG00000205250, GenAtlas:E2F4, GeneCard:E2F4, HGNC:HGNC:3118, ModBase:Q16254, NCBI Gene:1874, OMIM:600659, RefSeq DNA:NT_010498, RefSeq Protein:NP_001941, RefSeq RNA:NM_001950, UCSC Genome Browser:NM_001950, UniProtKB:Q16254 No chr16 67226068 67232821 67192165 67198918 +PA27577 1875 HGNC:3119 ENSG00000133740 E2F transcription factor 5 E2F5 E2F transcription factor 5, p130-binding Yes No Comparative Toxicogenomics Database:1875, Ensembl:ENSG00000133740, GenAtlas:E2F5, GeneCard:E2F5, HGNC:HGNC:3119, HumanCyc Gene:HS05784, ModBase:Q15329, NCBI Gene:1875, OMIM:600967, RefSeq DNA:NT_008183, RefSeq Protein:NP_001077057, RefSeq Protein:NP_001077058, RefSeq Protein:NP_001942, RefSeq RNA:NM_001083588, RefSeq RNA:NM_001083589, RefSeq RNA:NM_001951, UCSC Genome Browser:NM_001951, UniProtKB:Q15329 No chr8 86089619 86126753 85177384 85214518 +PA27578 1876 HGNC:3120 ENSG00000169016 E2F transcription factor 6 E2F6 E2F-6 Yes No Comparative Toxicogenomics Database:1876, Ensembl:ENSG00000169016, GenAtlas:E2F6, GeneCard:E2F6, HGNC:HGNC:3120, HumanCyc Gene:HS09864, ModBase:O75461, NCBI Gene:1876, OMIM:602944, RefSeq DNA:NT_005334, RefSeq Protein:NP_937987, RefSeq RNA:NM_198256, RefSeq RNA:NR_003092, RefSeq RNA:NR_003093, RefSeq RNA:NR_003094, RefSeq RNA:NR_003095, UCSC Genome Browser:NM_001952, UniProtKB:O75461 No chr2 11584501 11606303 11444375 11466177 +PA134894421 144455 HGNC:23820 ENSG00000165891 E2F transcription factor 7 E2F7 Yes Yes Comparative Toxicogenomics Database:144455, Ensembl:ENSG00000165891, GeneCard:E2F7, HGNC:HGNC:23820, NCBI Gene:144455, OMIM:612046, RefSeq DNA:NT_029419, RefSeq Protein:NP_976328, RefSeq RNA:NM_203394 No chr12 77415026 77459360 77021246 77065580 +PA142671918 79733 HGNC:24727 ENSG00000129173 E2F transcription factor 8 E2F8 FLJ23311 Yes No Comparative Toxicogenomics Database:79733, Ensembl:ENSG00000129173, GeneCard:E2F8, HGNC:HGNC:24727, HumanCyc Gene:HS13293, ModBase:A0AVK6, NCBI Gene:79733, OMIM:612047, RefSeq DNA:NT_009237, RefSeq Protein:NP_078956, RefSeq RNA:NM_024680, UniProtKB:A0AVK6 No chr11 19245610 19263202 19224063 19241655 +PA27579 1877 HGNC:3121 ENSG00000167967 E4F transcription factor 1 E4F1 E4F Yes No Comparative Toxicogenomics Database:1877, Ensembl:ENSG00000167967, GenAtlas:E4F1, GeneCard:E4F1, HGNC:HGNC:3121, HumanCyc Gene:HS09665, ModBase:Q66K89, NCBI Gene:1877, OMIM:603022, RefSeq DNA:NT_010393, RefSeq Protein:NP_004415, RefSeq RNA:NM_004424, UCSC Genome Browser:NM_004424, UniProtKB:Q66K89 No chr16 2273490 2285743 2223488 2235742 +PA134897202 85403 HGNC:20907 ENSG00000144597 ELL associated factor 1 EAF1 Yes No Comparative Toxicogenomics Database:85403, Ensembl:ENSG00000144597, GeneCard:EAF1, HGNC:HGNC:20907, HumanCyc Gene:HS14039, ModBase:Q96JC9, NCBI Gene:85403, OMIM:608315, RefSeq DNA:NT_022517, RefSeq Protein:NP_149074, RefSeq RNA:NM_033083, UniProtKB:Q96JC9 No chr3 15469064 15484120 15427557 15442613 +PA128394690 55840 HGNC:23115 ENSG00000145088 ELL associated factor 2 EAF2 BM040, TRAITS, U19 Yes No Comparative Toxicogenomics Database:55840, Ensembl:ENSG00000145088, GeneCard:EAF2, HGNC:HGNC:23115, HumanCyc Gene:HS14074, NCBI Gene:55840, OMIM:607659, RefSeq DNA:NT_005612, RefSeq Protein:NP_060926, RefSeq RNA:NM_018456, UCSC Genome Browser:NM_018456, UniProtKB:Q96CJ1 No chr3 121554030 121605373 121835180 121886526 +PA162384208 55837 HGNC:19312 ENSG00000129518 E2F associated phosphoprotein EAPP E2F-associated phosphoprotein BM036, C14orf11, FLJ20578 Yes No Ensembl:ENSG00000129518, GeneCard:EAPP, HGNC:HGNC:19312, HumanCyc Gene:HS13302, NCBI Gene:55837, OMIM:609486, RefSeq DNA:NT_026437, RefSeq Protein:NP_060923, RefSeq RNA:NM_018453, UniProtKB:Q56P03 No chr14 34985135 35008943 34515929 34539737 +PA144596439 124454 HGNC:29419 ENSG00000103356 glutamyl-tRNA synthetase 2, mitochondrial EARS2 glutamate tRNA ligase 2, mitochondrial KIAA1970, MSE1, mtGlnRS Yes No Comparative Toxicogenomics Database:124454, Ensembl:ENSG00000103356, GeneCard:EARS2, HGNC:HGNC:29419, ModBase:Q5JPH6, NCBI Gene:124454, OMIM:612799, RefSeq DNA:NT_010393, RefSeq Protein:NP_001077083, RefSeq RNA:NM_001083614, RefSeq RNA:NR_003501, UniProtKB:Q5JPH6 No chr16 23533334 23568696 23522013 23557375 +PA27581 9166 HGNC:3123 ENSG00000147654 estrogen receptor binding site associated antigen 9 EBAG9 """estrogen receptor binding site associated, antigen, 9"", ""receptor-binding cancer antigen expressed on SiSo cells 1""" EB9, PDAF, RCAS1 Yes No Comparative Toxicogenomics Database:9166, Ensembl:ENSG00000147654, GenAtlas:EBAG9, GeneCard:EBAG9, HGNC:HGNC:3123, HumanCyc Gene:HS07462, ModBase:O00559, NCBI Gene:9166, OMIM:605772, RefSeq DNA:NT_008046, RefSeq Protein:NP_004206, RefSeq Protein:NP_936056, RefSeq RNA:NM_004215, RefSeq RNA:NM_198120, UCSC Genome Browser:NM_004215, UniProtKB:O00559 No chr8 110551929 110578225 109539700 109565996 +PA162384225 1879 HGNC:3126 ENSG00000164330 EBF transcription factor 1 EBF1 early B-cell factor 1 COE1, EBF, OLF1 Yes Yes Ensembl:ENSG00000164330, GeneCard:EBF1, HGNC:HGNC:3126, HumanCyc Gene:HS09063, ModBase:Q9UH73, NCBI Gene:1879, OMIM:164343, RefSeq DNA:NT_023133, RefSeq Protein:NP_076870, RefSeq RNA:NM_024007, UniProtKB:Q9UH73 No chr5 158122916 158526788 158695915 159099762 +PA38794 64641 HGNC:19090 ENSG00000221818 EBF transcription factor 2 EBF2 """Collier, Olf and EBF transcription factor 2"", ""early B-cell factor 2""" COE2, FLJ11500 Yes No Comparative Toxicogenomics Database:64641, Ensembl:ENSG00000221818, GenAtlas:EBF2, GeneCard:EBF2, HGNC:HGNC:19090, ModBase:Q9HAK2, NCBI Gene:64641, OMIM:609934, RefSeq DNA:NT_167187, RefSeq Protein:NP_073150, RefSeq RNA:NM_022659, UCSC Genome Browser:NM_022659, UniProtKB:Q9HAK2 No chr8 25699246 25902640 25841730 26045124 +PA134972607 253738 HGNC:19087 ENSG00000108001 EBF transcription factor 3 EBF3 Transcription factor COE3, early B-cell factor 3 COE3, DKFZp667B0210 Yes No Ensembl:ENSG00000108001, GeneCard:EBF3, HGNC:HGNC:19087, NCBI Gene:253738, OMIM:607407, RefSeq DNA:NT_008818, RefSeq Protein:NP_001005463, RefSeq RNA:NM_001005463, UniProtKB:Q658Y5, UniProtKB:Q9H4W6 No chr10 131633496 131762546 129835232 129964274 +PA162384262 57593 HGNC:29278 ENSG00000088881 EBF family member 4 EBF4 early B-cell factor 4 COE4, KIAA1442, O/E-4, RP5-860F19.3 Yes No Ensembl:ENSG00000088881, GeneCard:EBF4, HGNC:HGNC:29278, ModBase:Q9BQW3, NCBI Gene:57593, OMIM:609935, RefSeq DNA:NT_011387, RefSeq Protein:NP_001103984, RefSeq RNA:NM_001110514, UniProtKB:Q7Z5T1, UniProtKB:Q9BQW3 No chr20 2673524 2740754 2692878 2760108 +PA27584 10148 HGNC:3129 ENSG00000105246 Epstein-Barr virus induced 3 EBI3 IL27 subunit, IL35 subunit IL27B, IL35B Yes No Comparative Toxicogenomics Database:10148, Ensembl:ENSG00000105246, GenAtlas:EBI3, GeneCard:EBI3, HGNC:HGNC:3129, HumanCyc Gene:HS02699, ModBase:Q14213, NCBI Gene:10148, OMIM:605816, RefSeq DNA:NT_011255, RefSeq Protein:NP_005746, RefSeq RNA:NM_005755, UCSC Genome Browser:NM_005755, UniProtKB:Q14213 No chr19 4229540 4237525 4229196 4237539 +PA166049039 340900 HGNC:39430 ENSG00000223601 endogenous Bornavirus like nucleoprotein 1 EBLN1 endogenous Borna-like N element 1, endogenous Bornavirus-like nucleoprotein 1 Yes No Ensembl:ENSG00000223601, HGNC:HGNC:39430, NCBI Gene:340900 No chr10 22497743 22498912 22208814 22209983 +PA166048968 55096 HGNC:25493 ENSG00000255423 endogenous Bornavirus like nucleoprotein 2 EBLN2 endogenous Borna-like N element 2, endogenous Bornavirus-like nucleoprotein 2 Yes No Ensembl:ENSG00000255423, HGNC:HGNC:25493, NCBI Gene:55096 No chr3 73110810 73112488 73061659 73063337 +PA27586 10969 HGNC:15531 ENSG00000117395 EBNA1 binding protein 2 EBNA1BP2 EBP2, NOBP, P40 Yes No Comparative Toxicogenomics Database:10969, Ensembl:ENSG00000117395, GenAtlas:EBNA1BP2, GeneCard:EBNA1BP2, HGNC:HGNC:15531, HumanCyc Gene:HS04124, NCBI Gene:10969, RefSeq DNA:NT_032977, RefSeq Protein:NP_001153408, RefSeq Protein:NP_006815, RefSeq RNA:NM_001159936, RefSeq RNA:NM_006824, UCSC Genome Browser:NM_006824, UniProtKB:Q6IB29, UniProtKB:Q99848 No chr1 43629845 43638241 43164174 43172570 +PA27587 10682 HGNC:3133 ENSG00000147155 EBP cholestenol delta-isomerase EBP """3-beta-hydroxysteroid-delta-8,delta-7-isomerase"", ""Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)"", ""EBP, cholestenol delta-isomerase"", ""emopamil binding protein (sterol isomerase)"", ""sterol 8-isomerase""" CDPX2, CHO2, CPX, CPXD Yes No Comparative Toxicogenomics Database:10682, Ensembl:ENSG00000147155, GenAtlas:EBP, GeneCard:EBP, HGNC:HGNC:3133, HumanCyc Gene:HS07402, NCBI Gene:10682, OMIM:300205, OMIM:302960, RefSeq DNA:NG_007452, RefSeq DNA:NT_079573, RefSeq Protein:NP_006570, RefSeq RNA:NM_006579, UCSC Genome Browser:NM_006579, UniProtKB:Q15125 No chrX 48379306 48387104 48521776 48528716 +PA134875632 84650 HGNC:18061 ENSG00000123179 EBP like EBPL emopamil binding protein-like EBRP Yes No Comparative Toxicogenomics Database:84650, Ensembl:ENSG00000123179, GeneCard:EBPL, HGNC:HGNC:18061, HumanCyc Gene:HS04639, NCBI Gene:84650, RefSeq DNA:NT_024524, RefSeq Protein:NP_115954, RefSeq RNA:NM_032565, UniProtKB:Q6GPH7, UniProtKB:Q9BY08 No chr13 50234812 50265627 49660676 49691487 +PA27591 1887 HGNC:3142 Epstein Barr virus modification site 1 EBVM1 Yes No Comparative Toxicogenomics Database:1887, GenAtlas:EBVM1, GeneCard:EBVM1, HGNC:HGNC:3142, NCBI Gene:1887, OMIM:132860 No chr11 +PA27592 1888 HGNC:3143 Epstein Barr virus integration site 1 EBVS1 Yes No Comparative Toxicogenomics Database:1888, GenAtlas:EBVS1, GeneCard:EBVS1, HGNC:HGNC:3143, NCBI Gene:1888, OMIM:132850 No chr1 +PA143485450 11319 HGNC:17029 ENSG00000122882 ecdysoneless cell cycle regulator ECD ecdysoneless homolog (Drosophila) GCR2, hSGT1 Yes No Ensembl:ENSG00000122882, GeneCard:ECD, HGNC:HGNC:17029, HumanCyc Gene:HS04612, ModBase:O95905, NCBI Gene:11319, RefSeq DNA:NT_030059, RefSeq Protein:NP_001129224, RefSeq Protein:NP_001129225, RefSeq Protein:NP_009196, RefSeq RNA:NM_001135752, RefSeq RNA:NM_001135753, RefSeq RNA:NM_007265, RefSeq RNA:NR_024203, UniProtKB:C9JX46, UniProtKB:O95905 No chr10 74894282 74927853 73134524 73168095 +PA27594 1889 HGNC:3146 ENSG00000117298 endothelin converting enzyme 1 ECE1 ECE Yes No Comparative Toxicogenomics Database:1889, Ensembl:ENSG00000117298, GenAtlas:ECE1, GeneCard:ECE1, HGNC:HGNC:3146, HumanCyc Gene:HS04115, ModBase:Q9UJQ6, NCBI Gene:1889, OMIM:145500, OMIM:600423, RefSeq DNA:NG_013008, RefSeq DNA:NT_004610, RefSeq Protein:NP_001106818, RefSeq Protein:NP_001106819, RefSeq Protein:NP_001106820, RefSeq Protein:NP_001388, RefSeq RNA:NM_001113347, RefSeq RNA:NM_001113348, RefSeq RNA:NM_001113349, RefSeq RNA:NM_001397, UCSC Genome Browser:NM_001397, UniProtKB:P42892, UniProtKB:Q2Z2K8 No chr1 21543740 21672034 21217247 21345541 +PA134886910 9718 HGNC:13275 ENSG00000145194 endothelin converting enzyme 2 ECE2 KIAA0604, MGC2408 Yes No Comparative Toxicogenomics Database:9718, Ensembl:ENSG00000145194, GeneCard:ECE2, HGNC:HGNC:13275, HumanCyc Gene:HS07232, ModBase:O60344, NCBI Gene:9718, OMIM:610145, RefSeq DNA:NT_005612, RefSeq Protein:NP_001032401, RefSeq Protein:NP_001093590, RefSeq Protein:NP_001093591, RefSeq Protein:NP_055508, RefSeq Protein:NP_115707, RefSeq RNA:NM_001037324, RefSeq RNA:NM_001100120, RefSeq RNA:NM_001100121, RefSeq RNA:NM_014693, RefSeq RNA:NM_032331, UniProtKB:O60344 No chr3 183967445 184010819 184249657 184293031 +PA27595 9427 HGNC:3147 ENSG00000171551 endothelin converting enzyme like 1 ECEL1 damage induced neuronal endopeptidase, endothelin converting enzyme-like 1 DINE, XCE Yes No Comparative Toxicogenomics Database:9427, Ensembl:ENSG00000171551, GenAtlas:ECEL1, GeneCard:ECEL1, HGNC:HGNC:3147, HumanCyc Gene:HS10339, ModBase:O95672, NCBI Gene:9427, OMIM:605896, RefSeq DNA:NT_005403, RefSeq Protein:NP_004817, RefSeq RNA:NM_004826, UCSC Genome Browser:NM_004826, UniProtKB:O95672 No chr2 233344537 233352532 232479827 232487859 +PA38374 260331 HGNC:14017 ENSG00000204121 endothelin converting enzyme-like 1, pseudogene 1 ECEL1P1 Yes No Ensembl:ENSG00000204121, GenAtlas:ECEL1P1, GeneCard:ECEL1P1, HGNC:HGNC:14017, NCBI Gene:260331 No chr2 +PA38376 347694 HGNC:14019 ENSG00000244280 endothelin converting enzyme-like 1, pseudogene 2 ECEL1P2 ECEL2 Yes No Ensembl:ENSG00000244280, GenAtlas:ECEL1P2, GeneCard:ECEL1P2, HGNC:HGNC:14019, NCBI Gene:347694, RefSeq DNA:NG_002701, RefSeq DNA:NT_005403, RefSeq RNA:NR_028501 No chr2 233250460 233251754 232385750 232387044 +PA38375 260332 HGNC:14018 ENSG00000230122 endothelin converting enzyme-like 1, pseudogene 3 ECEL1P3 Yes No Ensembl:ENSG00000230122, GenAtlas:ECEL1P3, GeneCard:ECEL1P3, HGNC:HGNC:14018, NCBI Gene:260332, RefSeq DNA:NG_002700, RefSeq DNA:NT_005403 No chr2 233215835 233216072 232351125 232351362 +PA27596 1891 HGNC:3149 ENSG00000104823 enoyl-CoA hydratase 1 ECH1 """delta3,5-delta2,4-dienoyl-coenzyme A isomerase"", ""enoyl CoA hydratase 1, peroxisomal"", ""peroxisomal enoyl-CoA hydratase 1""" HPXEL Yes No Comparative Toxicogenomics Database:1891, Ensembl:ENSG00000104823, GenAtlas:ECH1, GeneCard:ECH1, HGNC:HGNC:3149, HumanCyc Gene:HS02625, ModBase:Q13011, NCBI Gene:1891, OMIM:600696, RefSeq DNA:NT_011109, RefSeq Protein:NP_001389, RefSeq RNA:NM_001398, UCSC Genome Browser:NM_001398, UniProtKB:Q13011 No chr19 39306062 39322497 38815422 38831857 +PA134871524 55862 HGNC:21489 ENSG00000093144 ethylmalonyl-CoA decarboxylase 1 ECHDC1 enoyl CoA hydratase domain containing 1 dJ351K20.2 Yes Yes Comparative Toxicogenomics Database:55862, Ensembl:ENSG00000093144, GeneCard:ECHDC1, HGNC:HGNC:21489, HumanCyc Gene:HS01794, ModBase:Q9NTX5, NCBI Gene:55862, OMIM:612136, RefSeq DNA:NT_025741, RefSeq Protein:NP_001002030, RefSeq Protein:NP_001099014, RefSeq Protein:NP_001099015, RefSeq Protein:NP_001132982, RefSeq Protein:NP_060949, RefSeq RNA:NM_001002030, RefSeq RNA:NM_001105544, RefSeq RNA:NM_001105545, RefSeq RNA:NM_001139510, RefSeq RNA:NM_018479, UniProtKB:Q5TEF6, UniProtKB:Q9NTX5 No chr6 127609857 127665214 127288712 127343609 +PA134913726 55268 HGNC:23408 ENSG00000121310 enoyl-CoA hydratase domain containing 2 ECHDC2 enoyl CoA hydratase domain containing 2 FLJ10948 Yes No Comparative Toxicogenomics Database:55268, Ensembl:ENSG00000121310, GeneCard:ECHDC2, HGNC:HGNC:23408, HumanCyc Gene:HS04481, ModBase:Q86YB7, NCBI Gene:55268, RefSeq DNA:NT_032977, RefSeq Protein:NP_001185890, RefSeq Protein:NP_001185891, RefSeq Protein:NP_060751, RefSeq RNA:NM_001198961, RefSeq RNA:NM_001198962, RefSeq RNA:NM_018281, UniProtKB:Q86YB7 No chr1 53361582 53392846 52895910 52927212 +PA134881215 79746 HGNC:23489 ENSG00000134463 enoyl-CoA hydratase domain containing 3 ECHDC3 enoyl CoA hydratase domain containing 3 FLJ20909 Yes No Comparative Toxicogenomics Database:79746, Ensembl:ENSG00000134463, GeneCard:ECHDC3, HGNC:HGNC:23489, HumanCyc Gene:HS05874, ModBase:Q96DC8, NCBI Gene:79746, RefSeq DNA:NT_008705, RefSeq Protein:NP_078969, RefSeq RNA:NM_024693, UniProtKB:Q96DC8 No chr10 11784356 11806065 11742357 11764070 +PA27597 1892 HGNC:3151 ENSG00000127884 enoyl-CoA hydratase, short chain 1 ECHS1 """enoyl CoA hydratase, short chain, 1, mitochondrial"", ""short chain enoyl-CoA hydratase""" SCEH Yes Yes Comparative Toxicogenomics Database:1892, Ensembl:ENSG00000127884, GenAtlas:ECHS1, GeneCard:ECHS1, HGNC:HGNC:3151, HumanCyc Gene:HS05132, ModBase:P30084, NCBI Gene:1892, OMIM:602292, RefSeq DNA:NT_008818, RefSeq Protein:NP_004083, RefSeq RNA:NM_004092, UCSC Genome Browser:NM_004092, UniProtKB:P30084 No chr10 135175987 135186908 133362483 133373404 +PA27173 1632 HGNC:2703 ENSG00000167969 enoyl-CoA delta isomerase 1 ECI1 3,2 trans-enoyl-CoA isomerase DCI Yes No Comparative Toxicogenomics Database:1632, Ensembl:ENSG00000167969, GenAtlas:DCI, GeneCard:DCI, HGNC:HGNC:2703, HumanCyc Gene:HS09667, ModBase:P42126, NCBI Gene:1632, OMIM:600305, RefSeq DNA:NT_010393, RefSeq Protein:NP_001171500, RefSeq Protein:NP_001910, RefSeq RNA:NM_001178029, RefSeq RNA:NM_001919, UCSC Genome Browser:NM_001919, UniProtKB:P42126 No chr16 2289873 2302296 2239872 2251601 +PA33168 10455 HGNC:14601 ENSG00000198721 enoyl-CoA delta isomerase 2 ECI2 Hepatocellular carcinoma-associated antigen 88, acyl-Coenzyme A binding domain containing 2 ACBD2, DRS1, HCA88, PECI Yes No Comparative Toxicogenomics Database:10455, Ensembl:ENSG00000198721, GenAtlas:PECI, GeneCard:PECI, HGNC:HGNC:14601, HumanCyc Gene:HS03615, ModBase:Q9UN55, NCBI Gene:10455, OMIM:608024, RefSeq DNA:NT_007592, RefSeq Protein:NP_001159482, RefSeq Protein:NP_006108, RefSeq Protein:NP_996667, RefSeq RNA:NM_001166010, RefSeq RNA:NM_006117, RefSeq RNA:NM_206836, RefSeq RNA:NR_028588, UCSC Genome Browser:NM_006117, UniProtKB:O75521 No chr6 4115927 4135831 4115693 4135597 +PA27598 1893 HGNC:3153 ENSG00000143369 extracellular matrix protein 1 ECM1 Yes No Comparative Toxicogenomics Database:1893, Ensembl:ENSG00000143369, GenAtlas:ECM1, GeneCard:ECM1, HGNC:HGNC:3153, HumanCyc Gene:HS07038, ModBase:Q8IZ60, NCBI Gene:1893, OMIM:247100, OMIM:602201, RefSeq DNA:NG_012062, RefSeq DNA:NT_004487, RefSeq Protein:NP_001189787, RefSeq Protein:NP_004416, RefSeq Protein:NP_073155, RefSeq RNA:NM_001202858, RefSeq RNA:NM_004425, RefSeq RNA:NM_022664, UCSC Genome Browser:NM_004425, UniProtKB:Q16610 No chr1 150480487 150486265 150508011 150513789 +PA27599 1842 HGNC:3154 ENSG00000106823 extracellular matrix protein 2 ECM2 """extracellular matrix protein 2, female organ and adipocyte specific"", ""matrix glycoprotein SC1/ECM2""" Yes No Comparative Toxicogenomics Database:1842, Ensembl:ENSG00000106823, GenAtlas:ECM2, GeneCard:ECM2, HGNC:HGNC:3154, HumanCyc Gene:HS02956, ModBase:O94769, NCBI Gene:1842, OMIM:603479, RefSeq DNA:NT_008470, RefSeq Protein:NP_001184224, RefSeq Protein:NP_001184225, RefSeq Protein:NP_001384, RefSeq RNA:NM_001197295, RefSeq RNA:NM_001197296, RefSeq RNA:NM_001393, UCSC Genome Browser:NM_001393, UniProtKB:O94769 No chr9 95255829 95298374 92493547 92536092 +PA134979723 23392 HGNC:29020 ENSG00000136813 Ecm29 proteasome adaptor and scaffold ECPAS ECM29 homolog (S. cerevisiae) ECM29, FLJ22036, KIAA0368 Yes No Comparative Toxicogenomics Database:23392, Ensembl:ENSG00000136813, GeneCard:KIAA0368, HGNC:HGNC:29020, ModBase:Q5VYK3, NCBI Gene:23392, RefSeq DNA:NT_008470, RefSeq Protein:NP_001073867, RefSeq RNA:NM_001080398 No chr9 114122973 114247025 111360693 111484745 +PA147358728 84417 HGNC:24642 ENSG00000119147 ECRG4 augurin precursor ECRG4 chromosome 2 open reading frame 40, esophageal cancer related gene 4 protein C2orf40, ECRG4, augurin Yes No Ensembl:ENSG00000119147, GeneCard:C2orf40, HGNC:HGNC:24642, HumanCyc Gene:HS12928, NCBI Gene:84417, OMIM:611752, RefSeq DNA:NT_022171, RefSeq Protein:NP_115787, RefSeq RNA:NM_032411, UniProtKB:Q9H1Z8 No chr2 106682113 106694611 106063290 106078155 +PA164718891 641700 HGNC:35454 ENSG00000249751 endothelial cell surface expressed chemotaxis and apoptosis regulator ECSCR apoptosis regulator through modulating IAP expression, endothelial cell-specific molecule 2 ARIA, ECSM2 Yes No Ensembl:ENSG00000249751, GeneCard:ECSCR, HGNC:HGNC:35454, ModBase:Q19T08, NCBI Gene:641700, RefSeq DNA:NT_029289, RefSeq DNA:NT_034772, RefSeq Protein:NP_001071161, RefSeq RNA:NM_001077693, UniProtKB:C3RSF2, UniProtKB:Q19T08 No chr5 +PA147358104 51295 HGNC:29548 ENSG00000130159 ECSIT signaling integrator ECSIT ECSIT homolog (Drosophila), ECSIT signalling integrator, signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse) SITPEC Yes No Comparative Toxicogenomics Database:51295, Ensembl:ENSG00000130159, GeneCard:ECSIT, HGNC:HGNC:29548, HumanCyc Gene:HS13319, ModBase:Q9BQ95, NCBI Gene:51295, OMIM:608388, RefSeq DNA:NT_011295, RefSeq Protein:NP_001135936, RefSeq Protein:NP_001135937, RefSeq Protein:NP_057665, RefSeq RNA:NM_001142464, RefSeq RNA:NM_001142465, RefSeq RNA:NM_016581, RefSeq RNA:NR_024551, UniProtKB:Q9BQ95 No chr19 11616731 11639987 11505916 11529172 +PA27600 1894 HGNC:3155 ENSG00000114346 epithelial cell transforming 2 ECT2 epithelial cell transforming sequence 2 oncogene ARHGEF31 Yes No Comparative Toxicogenomics Database:1894, Ensembl:ENSG00000114346, GenAtlas:ECT2, GeneCard:ECT2, HGNC:HGNC:3155, HumanCyc Gene:HS03757, ModBase:Q9H8V3, NCBI Gene:1894, OMIM:600586, RefSeq DNA:NT_005612, RefSeq Protein:NP_060568, RefSeq RNA:NM_018098, UCSC Genome Browser:NM_018098, UniProtKB:Q96SJ9, UniProtKB:Q9H8V3 No chr3 172468425 172539264 172750682 172829273 +PA134893289 345930 HGNC:21118 ENSG00000203734 epithelial cell transforming 2 like ECT2L F-box protein 49, epithelial cell transforming sequence 2 oncogene-like, lung specific F-box and DH domain containing protein ARHGEF32, C6orf91, FBXO49, LFDH Yes Yes Ensembl:ENSG00000203734, GeneCard:ECT2L, HGNC:HGNC:21118, NCBI Gene:345930, RefSeq DNA:NT_025741, RefSeq Protein:NP_001071174, RefSeq Protein:NP_001181966, RefSeq RNA:NM_001077706, RefSeq RNA:NM_001195037, UniProtKB:Q008S8 No chr6 139117248 139225207 138796107 138904070 +PA27601 1896 HGNC:3157 ENSG00000158813 ectodysplasin A EDA ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, ODT1, XHED, XLHED Yes No Comparative Toxicogenomics Database:1896, Ensembl:ENSG00000158813, GenAtlas:EDA, GeneCard:EDA, HGNC:HGNC:3157, HumanCyc Gene:HS08332, ModBase:Q9Y6L1, NCBI Gene:1896, OMIM:300451, OMIM:305100, OMIM:313500, RefSeq DNA:NG_009809, RefSeq DNA:NT_011669, RefSeq Protein:NP_001005609, RefSeq Protein:NP_001005610, RefSeq Protein:NP_001005611, RefSeq Protein:NP_001005612, RefSeq Protein:NP_001005613, RefSeq Protein:NP_001005615, RefSeq Protein:NP_001390, RefSeq RNA:NM_001005609, RefSeq RNA:NM_001005610, RefSeq RNA:NM_001005611, RefSeq RNA:NM_001005612, RefSeq RNA:NM_001005613, RefSeq RNA:NM_001005615, RefSeq RNA:NM_001399, UCSC Genome Browser:NM_001399, UniProtKB:Q92838 No chrX 68835911 69259322 69616067 70039472 +PA134974675 60401 HGNC:17756 ENSG00000131080 ectodysplasin A2 receptor EDA2R X-linked EDA receptor EDA-A2R, EDAA2R, TNFRSF27, XEDAR Yes No Ensembl:ENSG00000131080, GeneCard:EDA2R, HGNC:HGNC:17756, HumanCyc Gene:HS05485, ModBase:Q9HAV5, NCBI Gene:60401, OMIM:300276, RefSeq DNA:NG_013271, RefSeq DNA:NT_011669, RefSeq Protein:NP_001186616, RefSeq Protein:NP_001229239, RefSeq Protein:NP_068555, RefSeq RNA:NM_001199687, RefSeq RNA:NM_001242310, RefSeq RNA:NM_021783, UniProtKB:Q9HAV5 No chrX 65815479 65859140 66594384 66639303 +PA27602 10913 HGNC:2895 ENSG00000135960 ectodysplasin A receptor EDAR Tumor necrosis factor receptor superfamily member EDAR, ectodysplasin A1 receptor DL, ED1R, ED3, ED5, EDA1R, EDA3, Edar Yes No Comparative Toxicogenomics Database:10913, Ensembl:ENSG00000135960, GenAtlas:EDAR, GeneCard:EDAR, HGNC:HGNC:2895, HumanCyc Gene:HS06094, ModBase:Q9UNE0, NCBI Gene:10913, OMIM:129490, OMIM:224900, OMIM:604095, OMIM:612630, RefSeq DNA:NG_008257, RefSeq DNA:NT_022171, RefSeq Protein:NP_071731, RefSeq RNA:NM_022336, UCSC Genome Browser:NM_022336, UniProtKB:Q9UNE0 No chr2 109510927 109605828 108894471 108989372 +PA27603 128178 HGNC:14341 ENSG00000186197 EDAR associated via death domain EDARADD EDAR associated death domain, EDAR-associated death domain, Ectodysplasin-A receptor-associated adapter protein, crinkled CR Yes No Comparative Toxicogenomics Database:128178, Ensembl:ENSG00000186197, GenAtlas:EDARADD, GeneCard:EDARADD, HGNC:HGNC:14341, HumanCyc Gene:HS08754, ModBase:Q8WWZ3, NCBI Gene:128178, OMIM:129490, OMIM:224900, OMIM:606603, RefSeq DNA:NG_011566, RefSeq DNA:NT_167186, RefSeq Protein:NP_542776, RefSeq Protein:NP_665860, RefSeq RNA:NM_080738, RefSeq RNA:NM_145861, UCSC Genome Browser:NM_080738, UniProtKB:A8K7B5, UniProtKB:Q8WWZ3 No chr1 236557680 236648008 236394380 236484708 +PA142670551 80153 HGNC:26114 ENSG00000179151 enhancer of mRNA decapping 3 EDC3 """LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)""" FLJ21128, LSM16, YJDC, YJEFN2, hYjeF_N2-15q23 Yes No Comparative Toxicogenomics Database:80153, Ensembl:ENSG00000179151, GeneCard:EDC3, HGNC:HGNC:26114, HumanCyc Gene:HS11357, ModBase:Q96F86, NCBI Gene:80153, OMIM:609842, RefSeq DNA:NT_010194, RefSeq Protein:NP_001135915, RefSeq Protein:NP_001135916, RefSeq Protein:NP_079359, RefSeq RNA:NM_001142443, RefSeq RNA:NM_001142444, RefSeq RNA:NM_025083, UniProtKB:Q96F86 No chr15 74922899 74988386 74630558 74696045 +PA145148958 23644 HGNC:17157 ENSG00000038358 enhancer of mRNA decapping 4 EDC4 Ge-1, HEDLS, RCD-8 Yes No Comparative Toxicogenomics Database:23644, Ensembl:ENSG00000038358, GeneCard:EDC4, HGNC:HGNC:17157, HumanCyc Gene:HS00533, ModBase:Q6P2E9, NCBI Gene:23644, OMIM:606030, RefSeq DNA:NT_010498, RefSeq Protein:NP_055144, RefSeq RNA:NM_014329, UniProtKB:Q6P2E9 No chr16 67906926 67918417 67873023 67884514 +PA166180606 100506374 HGNC:53168 ENSG00000267710 epididymal protein 13 EDDM13 Yes No Ensembl:ENSG00000267710, HGNC:HGNC:53168, NCBI Gene:100506374 No 0 0 0 0 +PA165478869 10876 HGNC:16978 ENSG00000181562 epididymal protein 3A EDDM3A FAM12A, HE3-ALPHA Yes No Ensembl:ENSG00000181562, GeneCard:EDDM3A, HGNC:HGNC:16978, HumanCyc Gene:HS11632, ModBase:Q14507, NCBI Gene:10876, OMIM:611580, RefSeq DNA:NT_026437, RefSeq Protein:NP_006674, RefSeq RNA:NM_006683, UniProtKB:Q14507 No chr14 21214099 21216539 20735946 20748380 +PA165478900 64184 HGNC:19223 ENSG00000181552 epididymal protein 3B EDDM3B FAM12B, HE3-BETA Yes No Ensembl:ENSG00000181552, GeneCard:EDDM3B, HGNC:HGNC:19223, HumanCyc Gene:HS11631, ModBase:P56851, NCBI Gene:64184, OMIM:611582, RefSeq DNA:NT_026437, RefSeq Protein:NP_071755, RefSeq RNA:NM_022360, UniProtKB:P56851 No chr14 21236586 21239107 20768427 20770948 +PA134986960 266643 HGNC:19224 ENSG00000234060 epididymal protein 3C, pseudogene EDDM3CP HE3-GAMMA Yes No Ensembl:ENSG00000234060, HGNC:HGNC:19224, NCBI Gene:266643, RefSeq DNA:NG_002367 No chr2 135077125 135077746 134319554 134320175 +PA128394554 9695 HGNC:18967 ENSG00000134109 ER degradation enhancing alpha-mannosidase like protein 1 EDEM1 ER degradation enhancer, mannosidase alpha-like 1 EDEM, KIAA0212 Yes No Comparative Toxicogenomics Database:9695, Ensembl:ENSG00000134109, GeneCard:EDEM1, HGNC:HGNC:18967, HumanCyc Gene:HS05820, ModBase:Q92611, NCBI Gene:9695, OMIM:607673, RefSeq DNA:NT_022517, RefSeq Protein:NP_055489, RefSeq RNA:NM_014674, UCSC Genome Browser:NM_014674, UniProtKB:Q92611 No chr3 5229359 5261650 5187674 5219965 +PA25747 55741 HGNC:15877 ENSG00000088298 ER degradation enhancing alpha-mannosidase like protein 2 EDEM2 ER degradation enhancer, mannosidase alpha-like 2 C20orf31, C20orf49, FLJ10783, bA4204.1 Yes No Ensembl:ENSG00000088298, GenAtlas:EDEM2, GeneCard:EDEM2, HGNC:HGNC:15877, HumanCyc Gene:HS01596, ModBase:Q9BV94, NCBI Gene:55741, OMIM:610302, RefSeq DNA:NT_011362, RefSeq Protein:NP_001138497, RefSeq Protein:NP_060687, RefSeq RNA:NM_001145025, RefSeq RNA:NM_018217, RefSeq RNA:NR_026728, UCSC Genome Browser:NM_018217, UniProtKB:Q9BV94 No chr20 33703160 33735161 35115357 35147358 +PA38186 80267 HGNC:16787 ENSG00000116406 ER degradation enhancing alpha-mannosidase like protein 3 EDEM3 ER degradation enhancer, mannosidase alpha-like 3 C1orf22 Yes No Ensembl:ENSG00000116406, GenAtlas:EDEM3, GeneCard:EDEM3, HGNC:HGNC:16787, HumanCyc Gene:HS04012, ModBase:Q9BZQ6, NCBI Gene:80267, OMIM:610214, RefSeq DNA:NT_004487, RefSeq Protein:NP_079467, RefSeq RNA:NM_025191, UCSC Genome Browser:NM_025191, UniProtKB:Q7L2Y5, UniProtKB:Q9BZQ6 No chr1 184659625 184724041 184690491 184754907 +PA27604 8721 HGNC:3164 ENSG00000107223 endothelial differentiation related factor 1 EDF1 endothelial differentiation-related factor 1, multiprotein bridging factor-1 CFAP280, EDF-1 Yes No Ensembl:ENSG00000107223, GenAtlas:EDF1, GeneCard:EDF1, HGNC:HGNC:3164, HumanCyc Gene:HS02981, ModBase:O60869, NCBI Gene:8721, OMIM:605107, RefSeq DNA:NT_024000, RefSeq Protein:NP_003783, RefSeq Protein:NP_694880, RefSeq RNA:NM_003792, RefSeq RNA:NM_153200, UCSC Genome Browser:NM_003792, UniProtKB:O60869 No chr9 139756566 139760788 136862114 136866336 +PA27613 10085 HGNC:3173 ENSG00000164176 EGF like repeats and discoidin domains 3 EDIL3 EGF-like repeats and discoidin I-like domains 3 DEL1 Yes Yes Comparative Toxicogenomics Database:10085, Ensembl:ENSG00000164176, GenAtlas:EDIL3, GeneCard:EDIL3, HGNC:HGNC:3173, HumanCyc Gene:HS09035, ModBase:O43854, NCBI Gene:10085, OMIM:606018, RefSeq DNA:NT_006713, RefSeq Protein:NP_005702, RefSeq RNA:NM_005711, UCSC Genome Browser:NM_005711, UniProtKB:O43854, UniProtKB:Q8N610 No chr5 83236414 83680685 83940595 84384867 +PA27614 1906 HGNC:3176 ENSG00000078401 endothelin 1 EDN1 ET1 Yes Yes Comparative Toxicogenomics Database:1906, Ensembl:ENSG00000078401, GenAtlas:EDN1, GeneCard:EDN1, HGNC:HGNC:3176, HumanCyc Gene:HS01287, NCBI Gene:1906, OMIM:131240, RefSeq DNA:NG_016196, RefSeq DNA:NT_007592, RefSeq Protein:NP_001161791, RefSeq Protein:NP_001946, RefSeq RNA:NM_001168319, RefSeq RNA:NM_001955, UCSC Genome Browser:NM_001955, UniProtKB:P05305, UniProtKB:Q6FH53 No chr6 12290529 12297427 12256464 12297194 +PA27615 1907 HGNC:3177 ENSG00000127129 endothelin 2 EDN2 ET2 Yes No Comparative Toxicogenomics Database:1907, Ensembl:ENSG00000127129, GenAtlas:EDN2, GeneCard:EDN2, HGNC:HGNC:3177, HumanCyc Gene:HS05076, NCBI Gene:1907, OMIM:131241, RefSeq DNA:NT_032977, RefSeq Protein:NP_001947, RefSeq RNA:NM_001956, UCSC Genome Browser:NM_001956, UniProtKB:P20800 No chr1 41944446 41950348 41478775 41484699 +PA27616 1908 HGNC:3178 ENSG00000124205 endothelin 3 EDN3 ET3 Yes No Comparative Toxicogenomics Database:1908, Ensembl:ENSG00000124205, GenAtlas:EDN3, GeneCard:EDN3, HGNC:HGNC:3178, HumanCyc Gene:HS04734, ModBase:P14138, NCBI Gene:1908, OMIM:131242, OMIM:142623, OMIM:209880, OMIM:277580, OMIM:613265, RefSeq DNA:NG_008050, RefSeq DNA:NT_011362, RefSeq Protein:NP_000105, RefSeq Protein:NP_996915, RefSeq Protein:NP_996916, RefSeq Protein:NP_996917, RefSeq RNA:NM_000114, RefSeq RNA:NM_207032, RefSeq RNA:NM_207033, RefSeq RNA:NM_207034, UCSC Genome Browser:NM_000114, UniProtKB:P14138, UniProtKB:Q7Z6D2 No chr20 57875499 57901047 59300415 59325992 +PA27617 1909 HGNC:3179 ENSG00000151617 endothelin receptor type A EDNRA ET-A, ETA-R, hET-AR Yes Yes Comparative Toxicogenomics Database:1909, Ensembl:ENSG00000151617, GenAtlas:EDNRA, GeneCard:EDNRA, HGNC:HGNC:3179, HumanCyc Gene:HS07751, IUPHAR Receptor:219, ModBase:P25101, NCBI Gene:1909, OMIM:131243, OMIM:157300, RefSeq DNA:NG_013343, RefSeq DNA:NT_016354, RefSeq Protein:NP_001159527, RefSeq Protein:NP_001948, RefSeq RNA:NM_001166055, RefSeq RNA:NM_001957, RefSeq RNA:NR_028596, UCSC Genome Browser:NM_001957, UniProtKB:P25101 No chr4 148402069 148466106 147480917 147544954 +PA27618 1910 HGNC:3180 ENSG00000136160 endothelin receptor type B EDNRB ETB, HSCR, HSCR2 Yes No Comparative Toxicogenomics Database:1910, Ensembl:ENSG00000136160, GenAtlas:EDNRB, GeneCard:EDNRB, HGNC:HGNC:3180, HumanCyc Gene:HS06125, IUPHAR Receptor:220, ModBase:Q8NHM9, NCBI Gene:1910, OMIM:131244, OMIM:277580, OMIM:600155, OMIM:600501, RefSeq DNA:NG_011630, RefSeq DNA:NT_024524, RefSeq Protein:NP_000106, RefSeq Protein:NP_001116131, RefSeq Protein:NP_001188326, RefSeq Protein:NP_003982, RefSeq RNA:NM_000115, RefSeq RNA:NM_001122659, RefSeq RNA:NM_001201397, RefSeq RNA:NM_003991, UCSC Genome Browser:NM_000115, UniProtKB:P24530 No chr13 78469616 78549664 77895481 77975529 +PA134873666 26098 HGNC:24640 ENSG00000107938 erythroid differentiation regulatory factor 1 EDRF1 chromosome 10 open reading frame 137, erythroid differentiation-related factor 1 C10orf137, DKFZp586F1019, EDRF1, FLJ21617 Yes No Comparative Toxicogenomics Database:26098, Ensembl:ENSG00000107938, GeneCard:C10orf137, HGNC:HGNC:24640, HumanCyc Gene:HS12665, NCBI Gene:26098, RefSeq DNA:NT_030059, RefSeq Protein:NP_001189367, RefSeq Protein:NP_056423, RefSeq RNA:NM_001202438, RefSeq RNA:NM_015608, UniProtKB:Q3B7T1 No chr10 127408084 127452712 125719515 125764143 +PA27621 8411 HGNC:3185 ENSG00000102189 early endosome antigen 1 EEA1 ZFYVE2 Yes No Comparative Toxicogenomics Database:8411, Ensembl:ENSG00000102189, GenAtlas:EEA1, GeneCard:EEA1, HGNC:HGNC:3185, HumanCyc Gene:HS02365, ModBase:Q15075, NCBI Gene:8411, OMIM:605070, RefSeq DNA:NT_029419, RefSeq Protein:NP_003557, RefSeq RNA:NM_003566, UCSC Genome Browser:NM_003566, UniProtKB:Q15075 No chr12 93166285 93323107 92772509 92975228 +PA27624 8726 HGNC:3188 ENSG00000074266 embryonic ectoderm development EED WD protein associating with integrin cytoplasmic tails 1 HEED, WAIT-1 Yes No Comparative Toxicogenomics Database:8726, Ensembl:ENSG00000074266, GenAtlas:EED, GeneCard:EED, HGNC:HGNC:3188, HumanCyc Gene:HS01134, ModBase:O75530, NCBI Gene:8726, OMIM:605984, RefSeq DNA:NT_167190, RefSeq Protein:NP_003788, RefSeq Protein:NP_694536, RefSeq RNA:NM_003797, RefSeq RNA:NM_152991, UCSC Genome Browser:NM_003797, UniProtKB:O75530 No chr11 85955586 85989785 86244384 86285420 +PA27625 1915 HGNC:3189 ENSG00000156508 eukaryotic translation elongation factor 1 alpha 1 EEF1A1 Elongation factor 1-alpha 1 EE1A1, EEF1A, EF1A, EF1A1, EF1alpha1, LENG7 Yes No Comparative Toxicogenomics Database:1915, Ensembl:ENSG00000156508, GenAtlas:EEF1A1, GeneCard:EEF1A1, HGNC:HGNC:3189, HumanCyc Gene:HS08134, HumanCyc Gene:HS11388, ModBase:P68104, NCBI Gene:1915, OMIM:130590, RefSeq DNA:NT_007299, RefSeq DNA:NT_079592, RefSeq Protein:NP_001393, RefSeq RNA:NM_001402, UCSC Genome Browser:NM_001402, UniProtKB:P68104, UniProtKB:Q6IPS9 No chr6 74225473 74230755 73515750 73521032 +PA166352482 HGNC:3190 eukaryotic translation elongation factor 1 alpha 1-like 14 EEF1A1L14 Yes No HGNC:HGNC:3190 No 0 0 0 0 +PA27627 54054 HGNC:3191 ENSG00000223822 eukaryotic translation elongation factor 1 alpha 1 pseudogene EEF1A1P1 Yes No Ensembl:ENSG00000223822, GenAtlas:EEF1A1P, GeneCard:EEF1A1P1, HGNC:HGNC:3191, NCBI Gene:54054, RefSeq DNA:NG_000926, RefSeq DNA:NT_011512 No chr21 24762580 24763614 23390259 23391293 +PA27642 440595 HGNC:3206 ENSG00000228502 eukaryotic translation elongation factor 1 alpha 1 pseudogene 11 EEF1A1P11 eukaryotic translation elongation factor 1 alpha 1 (EEF1A1) pseudogene Yes No Ensembl:ENSG00000228502, GenAtlas:EEF1AL9, GeneCard:EEF1A1P11, HGNC:HGNC:3206, NCBI Gene:440595, RefSeq DNA:NG_008817, RefSeq DNA:NT_032977, RefSeq RNA:XR_017667, RefSeq RNA:XR_018775, RefSeq RNA:XR_038356 No chr1 96912486 96914179 96446930 96448623 +PA27632 133283 HGNC:3196 ENSG00000250182 eukaryotic translation elongation factor 1 alpha 1 pseudogene 13 EEF1A1P13 Yes No Ensembl:ENSG00000250182, GenAtlas:EEF1AL11, GeneCard:EEF1A1P13, HGNC:HGNC:3196, NCBI Gene:133283, RefSeq DNA:NG_002349, RefSeq DNA:NT_006576 No chr5 14651752 14653336 14651643 14653227 +PA27633 647167 HGNC:3197 ENSG00000233057 eukaryotic translation elongation factor 1 alpha 1 pseudogene 14 EEF1A1P14 eukaryotic translation elongation factor 1 alpha 1 (EEF1A1) pseudogene Yes No Ensembl:ENSG00000233057, GenAtlas:EEF1AL12, GeneCard:EEF1A1P14, HGNC:HGNC:3197, NCBI Gene:647167, RefSeq DNA:NG_008758, RefSeq DNA:NT_004487 No chr1 194158034 194159672 194188904 194190542 +PA165543407 100887747 HGNC:37891 eukaryotic translation elongation factor 1 alpha 1 pseudogene 18 EEF1A1P18 Yes No HGNC:HGNC:37891, NCBI Gene:100887747 No chr11 64792857 64794397 65025385 65026925 +PA134875383 319112 HGNC:20008 ENSG00000258841 eukaryotic translation elongation factor 1 alpha 1 pseudogene 2 EEF1A1P2 Yes No Ensembl:ENSG00000258841, GeneCard:EEF1A1P2, HGNC:HGNC:20008, NCBI Gene:319112, RefSeq DNA:NG_002494, RefSeq DNA:NT_026437 No chr14 82127777 82129634 81661433 81663290 +PA165548525 100862850 HGNC:37917 ENSG00000230125 eukaryotic translation elongation factor 1 alpha 1 pseudogene 39 EEF1A1P39 Yes No Ensembl:ENSG00000230125, HGNC:HGNC:37917, NCBI Gene:100862850 No chr10 30590752 30591001 30301823 30302072 +PA165756577 100874490 HGNC:37918 ENSG00000231144 eukaryotic translation elongation factor 1 alpha 1 pseudogene 40 EEF1A1P40 Yes No Ensembl:ENSG00000231144, HGNC:HGNC:37918, NCBI Gene:100874490 No chrX 106275478 106276050 107032248 107032820 +PA165791230 100874491 HGNC:38799 ENSG00000223600 eukaryotic translation elongation factor 1 alpha 1 pseudogene 41 EEF1A1P41 Yes No Ensembl:ENSG00000223600, HGNC:HGNC:38799, NCBI Gene:100874491 No chrY 2863108 2863314 2995067 2995273 +PA27636 158078 HGNC:3200 ENSG00000196205 eukaryotic translation elongation factor 1 alpha 1 pseudogene 5 EEF1A1P5 Yes No Ensembl:ENSG00000196205, GenAtlas:EEF1AL3, GeneCard:EEF1A1P5, HGNC:HGNC:3200, ModBase:Q5VTE0, NCBI Gene:158078, RefSeq DNA:NG_002350, RefSeq DNA:NT_035014 No chr9 135894822 135896562 133019423 133021169 +PA27637 221838 HGNC:3201 ENSG00000233476 eukaryotic translation elongation factor 1 alpha 1 pseudogene 6 EEF1A1P6 Yes No Ensembl:ENSG00000233476, GenAtlas:EEF1AL4, GeneCard:EEF1A1P6, HGNC:HGNC:3201, NCBI Gene:221838, RefSeq DNA:NG_002353, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 22549924 22551669 22510305 22512050 +PA27638 390924 HGNC:3202 ENSG00000268222 eukaryotic translation elongation factor 1 alpha 1 pseudogene 7 EEF1A1P7 Yes No Ensembl:ENSG00000268222, GenAtlas:EEF1AL5, GeneCard:EEF1A1P7, HGNC:HGNC:3202, NCBI Gene:390924, RefSeq DNA:NG_008815, RefSeq DNA:NT_011109 No chr19 35873074 35874957 35382172 35384055 +PA27639 389179 HGNC:3203 ENSG00000223529 eukaryotic translation elongation factor 1 alpha 1 pseudogene 8 EEF1A1P8 Yes No Ensembl:ENSG00000223529, GenAtlas:EEF1AL6, GeneCard:EEF1A1P8, HGNC:HGNC:3203, NCBI Gene:389179, RefSeq DNA:NG_006547, RefSeq DNA:NT_005612 No chr3 183744157 183745544 184026369 184027756 +PA27640 441032 HGNC:3204 ENSG00000249264 eukaryotic translation elongation factor 1 alpha 1 pseudogene 9 EEF1A1P9 Yes No Ensembl:ENSG00000249264, GenAtlas:EEF1AL7, GeneCard:EEF1A1P9, HGNC:HGNC:3204, NCBI Gene:441032, RefSeq DNA:NT_016354, RefSeq RNA:NR_003586 No chr4 106405783 106407533 105484626 105486376 +PA36219 1917 HGNC:3192 ENSG00000101210 eukaryotic translation elongation factor 1 alpha 2 EEF1A2 EEF1AL, HS1, STN, STNL Yes No Comparative Toxicogenomics Database:1917, Ensembl:ENSG00000101210, GenAtlas:EEF1A2, GenAtlas:STN, GeneCard:EEF1A2, GeneCard:STN, HGNC:HGNC:3192, HumanCyc Gene:HS02220, ModBase:Q05639, NCBI Gene:1917, OMIM:602959, RefSeq DNA:NT_011333, RefSeq Protein:NP_001949, RefSeq RNA:NM_001958, UCSC Genome Browser:NM_001958, UniProtKB:Q05639 No chr20 62119365 62130668 63488012 63499315 +PA162396671 221143 HGNC:27351 ENSG00000150456 EEF1A lysine methyltransferase 1 EEF1AKMT1 N-6 adenine-specific DNA methyltransferase 2 (putative), eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1 N6AMT2 Yes No Ensembl:ENSG00000150456, GeneCard:N6AMT2, HGNC:HGNC:27351, ModBase:Q8WVE0, NCBI Gene:221143, RefSeq DNA:NT_024524, RefSeq Protein:NP_777588, RefSeq RNA:NM_174928, UniProtKB:Q8WVE0 No chr13 21302036 21348095 20728931 20773958 +PA162395769 399818 HGNC:33787 ENSG00000203791 EEF1A lysine methyltransferase 2 EEF1AKMT2 eukaryotic translation elongation factor 1 alpha lysine methyltransferase 2, methyltransferase like 10 C10orf138, Efm4, Em:AC068896.3, METTL10 Yes No Ensembl:ENSG00000203791, GeneCard:METTL10, HGNC:HGNC:33787, ModBase:Q5JPI9, NCBI Gene:399818, RefSeq DNA:NT_030059, RefSeq Protein:NP_997719, RefSeq RNA:NM_212554, UniProtKB:Q5JPI9, UniProtKB:Q8TC28 No chr10 126434336 126480439 124757831 124791941 +PA145008445 25895 HGNC:24936 ENSG00000123427 EEF1A lysine methyltransferase 3 EEF1AKMT3 methyltransferase like 21B DKFZP586D0919, FAM119B, METTL21B Yes No Ensembl:ENSG00000123427, GeneCard:FAM119B, HGNC:HGNC:24936, HumanCyc Gene:HS13090, ModBase:Q96AZ1, NCBI Gene:25895, RefSeq DNA:NT_029419, RefSeq Protein:NP_056248, RefSeq Protein:NP_996797, RefSeq RNA:NM_015433, RefSeq RNA:NM_206914, UniProtKB:Q96AZ1 No chr12 58166383 58176324 57772600 57782541 +PA166180607 110599564 HGNC:53611 ENSG00000284753 EEF1A lysine methyltransferase 4 EEF1AKMT4 Yes No Ensembl:ENSG00000284753, HGNC:HGNC:53611, NCBI Gene:110599564 No 0 0 0 0 +PA27644 1933 HGNC:3208 ENSG00000114942 eukaryotic translation elongation factor 1 beta 2 EEF1B2 Yes No Comparative Toxicogenomics Database:1933, Ensembl:ENSG00000114942, GenAtlas:EEF1B2, GeneCard:EEF1B2, HGNC:HGNC:3208, HumanCyc Gene:HS03817, ModBase:P24534, NCBI Gene:1933, OMIM:600655, RefSeq DNA:NT_005403, RefSeq DNA:NT_079596, RefSeq Protein:NP_001032752, RefSeq Protein:NP_001950, RefSeq Protein:NP_066944, RefSeq RNA:NM_001037663, RefSeq RNA:NM_001959, RefSeq RNA:NM_021121, UCSC Genome Browser:NM_001959, UniProtKB:P24534 No chr2 207024318 207027653 206159594 206162929 +PA27643 1932 HGNC:3207 ENSG00000231169 eukaryotic translation elongation factor 1 beta 2 pseudogene 1 EEF1B2P1 Yes No Ensembl:ENSG00000231169, GenAtlas:EEF1B1, GeneCard:EEF1B2P1, HGNC:HGNC:3207, NCBI Gene:1932, RefSeq DNA:NG_003045, RefSeq DNA:NT_010194, UCSC Genome Browser:NM_021121 No chr15 52797226 52798105 52505029 52505908 +PA27645 1934 HGNC:3209 ENSG00000213864 eukaryotic translation elongation factor 1 beta 2 pseudogene 2 EEF1B2P2 BETA-3, EEF-1, EEF-1BETA5A Yes No Ensembl:ENSG00000213864, GenAtlas:EEF1B3, GeneCard:EEF1B2P2, HGNC:HGNC:3209, NCBI Gene:1934, OMIM:600656, RefSeq DNA:NG_003038, RefSeq DNA:NT_006713 No chr5 67455003 67455790 68159175 68159962 +PA27646 644820 HGNC:3210 ENSG00000232472 eukaryotic translation elongation factor 1 beta 2 pseudogene 3 EEF1B2P3 Yes No Ensembl:ENSG00000232472, GenAtlas:EEF1B4, GeneCard:EEF1B2P3, HGNC:HGNC:3210, NCBI Gene:644820, OMIM:300140, RefSeq DNA:NG_008008, RefSeq DNA:NT_167197 No chrX 24806464 24807227 24788347 24789092 +PA27647 1936 HGNC:3211 ENSG00000104529 eukaryotic translation elongation factor 1 delta EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) EF-1D, FLJ20897 Yes No Comparative Toxicogenomics Database:1936, Ensembl:ENSG00000104529, GenAtlas:EEF1D, GeneCard:EEF1D, HGNC:HGNC:3211, HumanCyc Gene:HS02593, ModBase:P29692, NCBI Gene:1936, OMIM:130592, RefSeq DNA:NT_008046, RefSeq Protein:NP_001123525, RefSeq Protein:NP_001123526, RefSeq Protein:NP_001123527, RefSeq Protein:NP_001123528, RefSeq Protein:NP_001123529, RefSeq Protein:NP_001182132, RefSeq Protein:NP_001951, RefSeq Protein:NP_115754, RefSeq RNA:NM_001130053, RefSeq RNA:NM_001130054, RefSeq RNA:NM_001130055, RefSeq RNA:NM_001130056, RefSeq RNA:NM_001130057, RefSeq RNA:NM_001195203, RefSeq RNA:NM_001960, RefSeq RNA:NM_032378, UCSC Genome Browser:NM_001960, UniProtKB:B2RAR6, UniProtKB:P29692, UniProtKB:Q4VBZ6, UniProtKB:Q9H7G6 No chr8 144661867 144679845 143579697 143597675 +PA27648 9521 HGNC:3212 ENSG00000124802 eukaryotic translation elongation factor 1 epsilon 1 EEF1E1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 3, multisynthetase complex auxiliary component p18 AIMP3, P18 Yes No Comparative Toxicogenomics Database:9521, Ensembl:ENSG00000124802, GenAtlas:EEF1E1, GeneCard:EEF1E1, HGNC:HGNC:3212, HumanCyc Gene:HS04838, ModBase:O43324, NCBI Gene:9521, OMIM:609206, RefSeq DNA:NT_007592, RefSeq Protein:NP_001129122, RefSeq Protein:NP_004271, RefSeq RNA:NM_001135650, RefSeq RNA:NM_004280, UCSC Genome Browser:NM_004280, UniProtKB:C9JLK5, UniProtKB:O43324 No chr6 8073593 8102828 8073360 8102595 +PA27649 1937 HGNC:3213 ENSG00000254772 eukaryotic translation elongation factor 1 gamma EEF1G EF1G Yes No Comparative Toxicogenomics Database:1937, Ensembl:ENSG00000254772, GenAtlas:EEF1G, GeneCard:EEF1G, HGNC:HGNC:3213, HumanCyc Gene:HS10960, ModBase:P26641, NCBI Gene:1937, OMIM:130593, RefSeq DNA:NT_079596, RefSeq DNA:NT_167190, RefSeq Protein:NP_001395, RefSeq RNA:NM_001404, UCSC Genome Browser:NM_001404, UniProtKB:P26641, UniProtKB:Q53YD7 No chr11 62327073 62341460 62559601 62573988 +PA27650 1938 HGNC:3214 ENSG00000167658 eukaryotic translation elongation factor 2 EEF2 polypeptidyl-tRNA translocase EEF-2, EF2 Yes No Comparative Toxicogenomics Database:1938, Ensembl:ENSG00000167658, GenAtlas:EEF2, GeneCard:EEF2, HGNC:HGNC:3214, HumanCyc Gene:HS09603, ModBase:P13639, NCBI Gene:1938, OMIM:130610, RefSeq DNA:NT_011255, RefSeq Protein:NP_001952, RefSeq RNA:NM_001961, UCSC Genome Browser:NM_001961, UniProtKB:P13639 No chr19 3976054 3985477 3976056 3985463 +PA134992891 29904 HGNC:24615 ENSG00000103319 eukaryotic elongation factor 2 kinase EEF2K eukaryotic elongation factor-2 kinase CaMKIII, eEF-2K Yes No Comparative Toxicogenomics Database:29904, Ensembl:ENSG00000103319, GeneCard:EEF2K, HGNC:HGNC:24615, HumanCyc Gene:HS02489, ModBase:O00418, NCBI Gene:29904, OMIM:606968, RefSeq DNA:NT_010393, RefSeq Protein:NP_037434, RefSeq RNA:NM_013302, UniProtKB:O00418 No chr16 22217592 22300066 22206264 22288745 +PA142671858 196483 HGNC:32221 ENSG00000118894 eukaryotic elongation factor 2 lysine methyltransferase EEF2KMT family with sequence similarity 86, member A EFM3, FAM86A, MGC19636, SB153 Yes No Ensembl:ENSG00000118894, GeneCard:FAM86A, HGNC:HGNC:32221, ModBase:Q96G04, NCBI Gene:196483, RefSeq DNA:NT_010393, RefSeq Protein:NP_958802, RefSeq Protein:NP_963892, RefSeq RNA:NM_201400, RefSeq RNA:NM_201598, UniProtKB:Q96G04 No chr16 5134301 5147789 5084298 5097820 +PA142671916 60678 HGNC:24614 ENSG00000132394 eukaryotic elongation factor, selenocysteine-tRNA specific EEFSEC """elongation factor for selenoprotein translation"", ""eukaryotic elongation factor, selenocysteine-tRNA-specific"", ""selenocysteine (Sec)-specific eukaryotic elongation factor""" EFSEC, SELB, eEFSec Yes No Comparative Toxicogenomics Database:60678, Ensembl:ENSG00000132394, GeneCard:EEFSEC, HGNC:HGNC:24614, HumanCyc Gene:HS05631, NCBI Gene:60678, OMIM:607695, RefSeq DNA:NT_005612, RefSeq Protein:NP_068756, RefSeq RNA:NM_021937, UniProtKB:P57772, UniProtKB:Q96HZ6 No chr3 127872302 128127489 128153456 128426193 +PA142671784 399665 HGNC:31419 ENSG00000167106 estrogen-induced osteoclastogenesis regulator 1 EEIG1 """early estrogen-induced gene 1"", ""family with sequence similarity 102 member A"", ""family with sequence similarity 102, member A"", ""sym-3 homolog A (C. elegans)""" C9orf132, Eeig1, FAM102A, SYM-3A, bA203J24.7 Yes No Ensembl:ENSG00000167106, GeneCard:FAM102A, HGNC:HGNC:31419, ModBase:Q5T9C2, NCBI Gene:399665, OMIM:610891, RefSeq DNA:NT_008470, RefSeq Protein:NP_001030331, RefSeq Protein:NP_976050, RefSeq RNA:NM_001035254, RefSeq RNA:NM_203305, UniProtKB:A2A329, UniProtKB:Q5T9C2 No chr9 130702861 130742812 127940582 127980533 +PA142671785 284611 HGNC:27637 ENSG00000162636 EEIG family member 2 EEIG2 """family with sequence similarity 102 member B"", ""family with sequence similarity 102, member B"", ""sym-3 homolog B (C. elegans)""" DKFZp779B126, FAM102B, SYM-3B Yes No Ensembl:ENSG00000162636, GeneCard:FAM102B, HGNC:HGNC:27637, NCBI Gene:284611, RefSeq DNA:NT_032977, RefSeq Protein:NP_001010883, RefSeq RNA:NM_001010883, UniProtKB:Q5T8I3 No chr1 109102653 109181949 108560349 108639327 +PA162384303 80820 HGNC:22223 ENSG00000122547 endonuclease/exonuclease/phosphatase family domain containing 1 EEPD1 KIAA1706 Yes No Ensembl:ENSG00000122547, GeneCard:EEPD1, HGNC:HGNC:22223, HumanCyc Gene:HS04576, ModBase:Q7L9B9, NCBI Gene:80820, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_085139, RefSeq RNA:NM_030636, UniProtKB:Q7L9B9 No chr7 36192836 36341152 36153149 36301543 +PA164718892 100130771 HGNC:34531 ENSG00000185055 EF-hand calcium binding domain 10 EFCAB10 Yes No Ensembl:ENSG00000185055, GeneCard:EFCAB10, HGNC:HGNC:34531, NCBI Gene:100130771, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NM_001355526 No chr7 105205580 105221976 105565133 105581529 +PA134875422 90141 HGNC:20357 ENSG00000140025 EF-hand calcium binding domain 11 EFCAB11 C14orf143 Yes No Ensembl:ENSG00000140025, GeneCard:C14orf143, HGNC:HGNC:20357, HumanCyc Gene:HS06678, ModBase:Q9BUY7, NCBI Gene:90141, RefSeq DNA:NT_026437, RefSeq Protein:NP_660274, RefSeq RNA:NM_145231, UniProtKB:Q9BUY7 No chr14 90261499 90421148 89794984 89954777 +PA142672386 90288 HGNC:28061 ENSG00000172771 EF-hand calcium binding domain 12 EFCAB12 C3orf25 Yes No Ensembl:ENSG00000172771, GeneCard:C3orf25, HGNC:HGNC:28061, ModBase:Q6NXP0, NCBI Gene:90288, RefSeq DNA:NT_005612, RefSeq Protein:NP_997190, RefSeq RNA:NM_207307 No chr3 129120164 129147494 129401321 129428651 +PA142672240 124989 HGNC:26864 ENSG00000178852 EF-hand calcium binding domain 13 EFCAB13 C17orf57, FLJ40342 Yes No Ensembl:ENSG00000178852, GeneCard:C17orf57, HGNC:HGNC:26864, HumanCyc Gene:HS11323, ModBase:Q8IY85, NCBI Gene:124989, RefSeq DNA:NT_010783, RefSeq Protein:NP_001182121, RefSeq Protein:NP_689560, RefSeq RNA:NM_001195192, RefSeq RNA:NM_152347, UniProtKB:Q8IY85 No chr17 45401327 45518678 47323961 47441312 +PA142671630 9813 HGNC:29051 ENSG00000159658 EF-hand calcium binding domain 14 EFCAB14 KIAA0494 Yes No Ensembl:ENSG00000159658, GeneCard:KIAA0494, HGNC:HGNC:29051, HumanCyc Gene:HS08414, ModBase:O75071, NCBI Gene:9813, RefSeq DNA:NT_032977, RefSeq Protein:NP_055589, RefSeq RNA:NM_014774, UniProtKB:O75071 No chr1 47140831 47184792 46675159 46719064 +PA142671914 84288 HGNC:28166 ENSG00000203666 EF-hand calcium binding domain 2 EFCAB2 dynein regulatory complex subunit 8 CFAP200, DRC8, MGC12458 Yes No Comparative Toxicogenomics Database:84288, Ensembl:ENSG00000203666, GeneCard:EFCAB2, HGNC:HGNC:28166, ModBase:Q5VUJ9, NCBI Gene:84288, RefSeq DNA:NT_167186, RefSeq Protein:NP_001137415, RefSeq Protein:NP_115704, RefSeq RNA:NM_001143943, RefSeq RNA:NM_032328, RefSeq RNA:NR_026586, RefSeq RNA:NR_026587, RefSeq RNA:NR_026588, UniProtKB:B4DZE9, UniProtKB:Q5VUJ9 No chr1 245133171 245288530 244969739 245125228 +PA143485451 146779 HGNC:26379 ENSG00000172421 EF-hand calcium binding domain 3 EFCAB3 FLJ25818 Yes No Ensembl:ENSG00000172421, GeneCard:EFCAB3, HGNC:HGNC:26379, HumanCyc Gene:HS10514, ModBase:Q8N7B9, NCBI Gene:146779, RefSeq DNA:NT_010783, RefSeq Protein:NP_001138405, RefSeq Protein:NP_775774, RefSeq RNA:NM_001144933, RefSeq RNA:NM_173503, UniProtKB:Q8N7B9 No chr17 60447579 60493840 62370218 62416479 +PA145008457 374786 HGNC:24801 ENSG00000176927 EF-hand calcium binding domain 5 EFCAB5 FLJ46247 Yes No Ensembl:ENSG00000176927, GeneCard:EFCAB5, HGNC:HGNC:24801, ModBase:A4FU69, NCBI Gene:374786, RefSeq DNA:NT_010799, RefSeq Protein:NP_001138525, RefSeq Protein:NP_940931, RefSeq RNA:NM_001145053, RefSeq RNA:NM_198529, RefSeq RNA:NR_026738, UniProtKB:A4FU69, UniProtKB:B4DS75, UniProtKB:B4DZR5 No chr17 28256874 28435470 29929856 30108452 +PA162384324 64800 HGNC:24204 ENSG00000186976 EF-hand calcium binding domain 6 EFCAB6 DJBP, FLJ23588, HSCBCIP1, KIAA1672, dJ185D5.1 Yes No Ensembl:ENSG00000186976, GeneCard:EFCAB6, HGNC:HGNC:24204, HumanCyc Gene:HS00386, ModBase:Q9NSF5, NCBI Gene:64800, RefSeq DNA:NT_011520, RefSeq Protein:NP_073622, RefSeq Protein:NP_942153, RefSeq RNA:NM_022785, RefSeq RNA:NM_198856, UniProtKB:Q5THR3 No chr22 43924624 44208217 43528549 43812403 +PA162384389 84455 HGNC:29379 ENSG00000203965 EF-hand calcium binding domain 7 EFCAB7 KIAA1799, RP4-534K7.1 Yes No Ensembl:ENSG00000203965, GeneCard:EFCAB7, HGNC:HGNC:29379, ModBase:A8K855, NCBI Gene:84455, RefSeq DNA:NT_032977, RefSeq Protein:NP_115813, RefSeq RNA:NM_032437, UniProtKB:A8K855 No chr1 63989013 64051041 63523301 63585400 +PA164718907 388795 HGNC:34532 ENSG00000215529 EF-hand calcium binding domain 8 EFCAB8 Yes No Ensembl:ENSG00000215529, GeneCard:EFCAB8, HGNC:HGNC:34532, NCBI Gene:388795, RefSeq DNA:NT_011362, RefSeq Protein:NP_001137439, RefSeq Protein:XP_003118847, RefSeq RNA:NM_001143967, RefSeq RNA:XM_003118799 No chr20 31451595 31481113 32860995 32961845 +PA164718963 285588 HGNC:34530 ENSG00000214360 EF-hand calcium binding domain 9 EFCAB9 Yes No Ensembl:ENSG00000214360, GeneCard:EFCAB9, HGNC:HGNC:34530, ModBase:A8MZ26, NCBI Gene:285588, RefSeq Protein:NP_001164654, RefSeq Protein:XP_001715952, RefSeq Protein:XP_946145, RefSeq RNA:NM_001171183, RefSeq RNA:XM_001715900, RefSeq RNA:XM_941052, UniProtKB:A8MZ26 No chr5 171621176 171630458 172188061 172203454 +PA142672165 79825 HGNC:25692 ENSG00000114654 EF-hand and coiled-coil domain containing 1 EFCC1 C3orf73, CCDC48, FLJ12057 Yes No Ensembl:ENSG00000114654, GeneCard:CCDC48, HGNC:HGNC:25692, HumanCyc Gene:HS12821, ModBase:Q9HA90, NCBI Gene:79825, RefSeq DNA:NT_005612, RefSeq Protein:NP_079044, RefSeq RNA:NM_024768, UniProtKB:Q9HA90 No chr3 128720131 128759585 129001604 129040742 +PA27652 2202 HGNC:3218 ENSG00000115380 EGF containing fibulin extracellular matrix protein 1 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1, fibulin 3 DHRD, FBLN3, FBNL, MTLV, S1-5 Yes No Comparative Toxicogenomics Database:2202, Ensembl:ENSG00000115380, GenAtlas:EFEMP1, GeneCard:EFEMP1, HGNC:HGNC:3218, HumanCyc Gene:HS03881, ModBase:Q12805, NCBI Gene:2202, OMIM:126600, OMIM:601548, RefSeq DNA:NG_009098, RefSeq DNA:NT_022184, RefSeq Protein:NP_001034437, RefSeq Protein:NP_001034438, RefSeq Protein:NP_004096, RefSeq RNA:NM_001039348, RefSeq RNA:NM_001039349, RefSeq RNA:NM_004105, UCSC Genome Browser:NM_004105, UniProtKB:Q12805 No chr2 56093097 56151298 55865962 55924163 +PA27653 30008 HGNC:3219 ENSG00000172638 EGF containing fibulin extracellular matrix protein 2 EFEMP2 EGF containing fibulin-like extracellular matrix protein 2, fibulin 4 FBLN4, UPH1 Yes No Comparative Toxicogenomics Database:30008, Ensembl:ENSG00000172638, GenAtlas:EFEMP2, GeneCard:EFEMP2, HGNC:HGNC:3219, HumanCyc Gene:HS10546, ModBase:O95967, NCBI Gene:30008, OMIM:219100, OMIM:604633, RefSeq DNA:NG_012304, RefSeq DNA:NT_167190, RefSeq Protein:NP_058634, RefSeq RNA:NM_016938, RefSeq RNA:NR_037718, UCSC Genome Browser:NM_016938, UniProtKB:B2RCM5, UniProtKB:O95967 No chr11 65633912 65640405 65866441 65872934 +PA134987079 151651 HGNC:26330 ENSG00000163576 EF-hand domain family member B EFHB """EF-hand domain family, member B"", ""cilia and flagella associated protein 21""" CFAP21, FLJ25200 Yes No Ensembl:ENSG00000163576, GeneCard:EFHB, HGNC:HGNC:26330, HumanCyc Gene:HS15080, ModBase:Q8N7U6, NCBI Gene:151651, RefSeq DNA:NT_022517, RefSeq Protein:NP_653316, RefSeq RNA:NM_144715, UniProtKB:Q8N7U6 No chr3 19920964 19977820 19879472 19947036 +PA27654 114327 HGNC:16406 ENSG00000096093 EF-hand domain containing 1 EFHC1 EF-hand domain (C-terminal) containing 1, myoclonin-1 EJM, EJM1, FLJ10466, POC9, RIB72 Yes No Comparative Toxicogenomics Database:114327, Ensembl:ENSG00000096093, GenAtlas:EFHC1, GeneCard:EFHC1, HGNC:HGNC:16406, ModBase:Q5JVL4, NCBI Gene:114327, OMIM:254770, OMIM:607631, OMIM:608815, RefSeq DNA:NG_016760, RefSeq DNA:NT_007592, RefSeq Protein:NP_001165891, RefSeq Protein:NP_060570, RefSeq RNA:NM_001172420, RefSeq RNA:NM_018100, RefSeq RNA:NR_033327, UCSC Genome Browser:NM_018100, UniProtKB:B2CKC5, UniProtKB:B4DMU3, UniProtKB:Q5JVL4 No chr6 52284994 52360583 52420196 52495785 +PA134938637 80258 HGNC:26233 ENSG00000183690 EF-hand domain containing 2 EFHC2 EF-hand domain (C-terminal) containing 2 FLJ22843, MRX74 Yes No Ensembl:ENSG00000183690, GeneCard:EFHC2, HGNC:HGNC:26233, ModBase:Q5JST6, NCBI Gene:80258, OMIM:300817, RefSeq DNA:NG_021391, RefSeq DNA:NT_079573, RefSeq Protein:NP_079460, RefSeq RNA:NM_025184, UniProtKB:Q5JST6 No chrX 44005549 44202923 44146254 44343677 +PA134935372 80303 HGNC:29556 ENSG00000115468 EF-hand domain family member D1 EFHD1 """EF-hand domain family, member D1"", ""swiprosin-2""" FLJ13612 Yes No Comparative Toxicogenomics Database:80303, Ensembl:ENSG00000115468, GeneCard:EFHD1, HGNC:HGNC:29556, HumanCyc Gene:HS03894, ModBase:Q9BUP0, NCBI Gene:80303, OMIM:611617, RefSeq DNA:NT_005403, RefSeq Protein:NP_079478, RefSeq RNA:NM_025202, RefSeq RNA:NR_027663, UniProtKB:Q9BUP0 No chr2 233470767 233547491 232606057 232682781 +PA134942316 79180 HGNC:28670 ENSG00000142634 EF-hand domain family member D2 EFHD2 """EF-hand domain family, member D2"", ""swiprosin-1""" MGC4342 Yes No Comparative Toxicogenomics Database:79180, Ensembl:ENSG00000142634, GeneCard:EFHD2, HGNC:HGNC:28670, HumanCyc Gene:HS06947, ModBase:Q96C19, NCBI Gene:79180, RefSeq DNA:NT_004610, RefSeq Protein:NP_077305, RefSeq RNA:NM_024329, UniProtKB:Q96C19 No chr1 15736391 15756839 15409895 15430343 +PA134902221 79631 HGNC:25789 ENSG00000140598 elongation factor like GTPase 1 EFL1 elongation factor Tu GTP binding domain containing 1, ribosome assembly 1 homolog (yeast) EFTUD1, FAM42A, FLJ13119, HsT19294, RIA1 Yes No Comparative Toxicogenomics Database:79631, Ensembl:ENSG00000140598, GeneCard:EFTUD1, HGNC:HGNC:25789, HumanCyc Gene:HS06743, ModBase:Q7Z2Z2, NCBI Gene:79631, RefSeq DNA:NT_010194, RefSeq Protein:NP_001035700, RefSeq Protein:NP_078856, RefSeq RNA:NM_001040610, RefSeq RNA:NM_024580, UniProtKB:Q7Z2Z2 No chr15 82422561 82555104 82130220 82262763 +PA27656 1942 HGNC:3221 ENSG00000169242 ephrin A1 EFNA1 EPH-related receptor tyrosine kinase ligand 1, Tumor necrosis factor alpha-induced protein 4, ephrin-A1, gastric cancer metastasis associated long noncoding RNA ECKLG, EPLG1, GMAN, LERK1, TNFAIP4 Yes No Comparative Toxicogenomics Database:1942, Ensembl:ENSG00000169242, GenAtlas:EFNA1, GeneCard:EFNA1, HGNC:HGNC:3221, HumanCyc Gene:HS09912, ModBase:P20827, NCBI Gene:1942, OMIM:191164, RefSeq DNA:NT_004487, RefSeq Protein:NP_004419, RefSeq Protein:NP_872626, RefSeq RNA:NM_004428, RefSeq RNA:NM_182685, UCSC Genome Browser:NM_004428, UniProtKB:P20827 No chr1 155100349 155107386 155127873 155134910 +PA27657 1943 HGNC:3222 ENSG00000099617 ephrin A2 EFNA2 EPH-related receptor tyrosine kinase ligand 6, ephrin-A2 ELF-1, EPLG6, LERK6 Yes No Ensembl:ENSG00000099617, GenAtlas:EFNA2, GeneCard:EFNA2, HGNC:HGNC:3222, HumanCyc Gene:HS01898, ModBase:O43921, NCBI Gene:1943, OMIM:602756, RefSeq DNA:NT_011255, RefSeq Protein:NP_001396, RefSeq RNA:NM_001405, UCSC Genome Browser:NM_001405, UniProtKB:O43921 No chr19 1286153 1301430 1282817 1301431 +PA27658 1944 HGNC:3223 ENSG00000143590 ephrin A3 EFNA3 EPH-related receptor tyrosine kinase ligand 3, ephrin-A3 EPLG3, Ehk1-L, LERK3 Yes No Ensembl:ENSG00000143590, GenAtlas:EFNA3, GeneCard:EFNA3, HGNC:HGNC:3223, HumanCyc Gene:HS07082, ModBase:P52797, NCBI Gene:1944, OMIM:601381, RefSeq DNA:NT_004487, RefSeq Protein:NP_004943, RefSeq RNA:NM_004952, UCSC Genome Browser:NM_004952, UniProtKB:P52797 No chr1 155051348 155060014 155078872 155087538 +PA27659 1945 HGNC:3224 ENSG00000243364 ephrin A4 EFNA4 EPH-related receptor tyrosine kinase ligand 4, ephrin-A4 EPLG4, LERK4 Yes No Comparative Toxicogenomics Database:1945, Ensembl:ENSG00000243364, GenAtlas:EFNA4, GeneCard:EFNA4, HGNC:HGNC:3224, ModBase:P52798, NCBI Gene:1945, OMIM:601380, RefSeq DNA:NT_004487, RefSeq Protein:NP_005218, RefSeq Protein:NP_872631, RefSeq Protein:NP_872632, RefSeq RNA:NM_005227, RefSeq RNA:NM_182689, RefSeq RNA:NM_182690, UCSC Genome Browser:NM_005227, UniProtKB:C9JHJ8, UniProtKB:P52798 No chr1 155036213 155042029 155063737 155069553 +PA27660 1946 HGNC:3225 ENSG00000184349 ephrin A5 EFNA5 EPH-related receptor tyrosine kinase ligand 7, ephrin-A5 AF1, EPLG7, LERK7 Yes No Comparative Toxicogenomics Database:1946, Ensembl:ENSG00000184349, GenAtlas:EFNA5, GeneCard:EFNA5, HGNC:HGNC:3225, ModBase:P52803, NCBI Gene:1946, OMIM:601535, RefSeq DNA:NT_034772, RefSeq Protein:NP_001953, RefSeq RNA:NM_001962, UCSC Genome Browser:NM_001962, UniProtKB:P52803 No chr5 106712590 107006596 107376889 107672364 +PA27661 1947 HGNC:3226 ENSG00000090776 ephrin B1 EFNB1 EPH-related receptor tyrosine kinase ligand 2, ephrin-B1 CFNS, EPLG2, Elk-L, LERK2 Yes No Comparative Toxicogenomics Database:1947, Ensembl:ENSG00000090776, GenAtlas:EFNB1, GeneCard:EFNB1, HGNC:HGNC:3226, HumanCyc Gene:HS01705, ModBase:P98172, NCBI Gene:1947, OMIM:300035, OMIM:304110, RefSeq DNA:NG_008887, RefSeq DNA:NT_011669, RefSeq Protein:NP_004420, RefSeq RNA:NM_004429, UCSC Genome Browser:NM_004429, UniProtKB:P98172 No chrX 68048840 68062007 68828997 68842164 +PA27662 1948 HGNC:3227 ENSG00000125266 ephrin B2 EFNB2 HTK ligand, eph-related receptor tyrosine kinase ligand 5, ephrin-B2, ligand of eph-related kinase 5 EPLG5, HTKL, Htk-L, LERK5, MGC126226, MGC126227, MGC126228 Yes No Comparative Toxicogenomics Database:1948, Ensembl:ENSG00000125266, GenAtlas:EFNB2, GeneCard:EFNB2, HGNC:HGNC:3227, HumanCyc Gene:HS04867, ModBase:P52799, NCBI Gene:1948, OMIM:600527, RefSeq DNA:NT_009952, RefSeq Protein:NP_004084, RefSeq RNA:NM_004093, UCSC Genome Browser:NM_004093, UniProtKB:P52799 No chr13 107142079 107187388 106489731 106535040 +PA27663 1949 HGNC:3228 ENSG00000108947 ephrin B3 EFNB3 EPH-related receptor tyrosine kinase ligand 8, ephrin-B3 EPLG8, LERK-8 Yes No Comparative Toxicogenomics Database:1949, Ensembl:ENSG00000108947, GenAtlas:EFNB3, GeneCard:EFNB3, HGNC:HGNC:3228, HumanCyc Gene:HS03180, ModBase:Q15768, NCBI Gene:1949, OMIM:602297, RefSeq DNA:NT_010718, RefSeq Protein:NP_001397, RefSeq RNA:NM_001406, UCSC Genome Browser:NM_001406, UniProtKB:Q15768 No chr17 7608520 7614693 7705202 7711375 +PA162384422 23167 HGNC:28970 ENSG00000132294 EFR3 homolog A EFR3A EFR3 homolog A (S. cerevisiae) KIAA0143 Yes Yes Ensembl:ENSG00000132294, GeneCard:EFR3A, HGNC:HGNC:28970, ModBase:Q14156, NCBI Gene:23167, OMIM:611798, RefSeq DNA:NT_008046, RefSeq Protein:NP_055952, RefSeq RNA:NM_015137, UniProtKB:Q14156 No chr8 132916356 133025889 131904088 132013642 +PA162384473 22979 HGNC:29155 ENSG00000084710 EFR3 homolog B EFR3B EFR3 homolog B (S. cerevisiae) FLJ37871, KIAA0953 Yes No Ensembl:ENSG00000084710, GeneCard:EFR3B, HGNC:HGNC:29155, NCBI Gene:22979, RefSeq DNA:NT_022184, RefSeq Protein:NP_055786, RefSeq RNA:NM_014971, UniProtKB:B3KT90, UniProtKB:Q9Y2G0 No chr2 25264973 25382004 25042104 25159137 +PA134887136 10278 HGNC:16898 ENSG00000100842 embryonal Fyn-associated substrate EFS Cas scaffolding protein family member 3 CASS3, EFS1, EFS2, HEFS, SIN Yes No Comparative Toxicogenomics Database:10278, Ensembl:ENSG00000100842, GeneCard:EFS, HGNC:HGNC:16898, HumanCyc Gene:HS02153, ModBase:O43281, NCBI Gene:10278, OMIM:609906, RefSeq DNA:NT_026437, RefSeq Protein:NP_005855, RefSeq Protein:NP_115835, RefSeq RNA:NM_005864, RefSeq RNA:NM_032459, UniProtKB:O43281 No chr14 23825609 23834842 23356400 23365633 +PA142671915 9343 HGNC:30858 ENSG00000108883 elongation factor Tu GTP binding domain containing 2 EFTUD2 """116 kDa U5 small nuclear ribonucleoprotein component"", ""U5 snRNP specific protein, 116 kD""" SNRNP116, Snrp116, Snu114, U5-116KD Yes No Comparative Toxicogenomics Database:9343, Ensembl:ENSG00000108883, GeneCard:EFTUD2, HGNC:HGNC:30858, HumanCyc Gene:HS03176, ModBase:Q15029, NCBI Gene:9343, OMIM:603892, RefSeq DNA:NT_010783, RefSeq Protein:NP_001136077, RefSeq Protein:NP_004238, RefSeq RNA:NM_001142605, RefSeq RNA:NM_004247, UniProtKB:B3KX19, UniProtKB:B4DK30, UniProtKB:Q15029 No chr17 42927655 42976993 44850287 44899625 +PA27664 1950 HGNC:3229 ENSG00000138798 epidermal growth factor EGF Pro-epidermal growth factor Yes Yes Comparative Toxicogenomics Database:1950, Ensembl:ENSG00000138798, GenAtlas:EGF, GeneCard:EGF, HGNC:HGNC:3229, HumanCyc Gene:HS06564, ModBase:P01133, NCBI Gene:1950, OMIM:131530, OMIM:611718, RefSeq DNA:NG_011441, RefSeq DNA:NT_016354, RefSeq Protein:NP_001171601, RefSeq Protein:NP_001171602, RefSeq Protein:NP_001954, RefSeq RNA:NM_001178130, RefSeq RNA:NM_001178131, RefSeq RNA:NM_001963, UCSC Genome Browser:NM_001963, UniProtKB:P01133 No chr4 110834040 110934118 109912883 110013079 +PA165697922 93556 HGNC:25149 ENSG00000206120 EGF-like and EMI domain containing 1, pseudogene EGFEM1P Yes No Ensembl:ENSG00000206120, GeneCard:NCRNA00259, HGNC:HGNC:25149, ModBase:Q0D2K5, NCBI Gene:93556, RefSeq DNA:NT_005612, RefSeq Protein:XP_001723700, RefSeq Protein:XP_001723702, RefSeq Protein:XP_001725969, RefSeq Protein:XP_001726282, RefSeq Protein:XP_371678, RefSeq Protein:XP_946625, RefSeq RNA:NR_021485, RefSeq RNA:XM_001723648, RefSeq RNA:XM_001723650, RefSeq RNA:XM_001725917, RefSeq RNA:XM_001726230, RefSeq RNA:XM_371678, RefSeq RNA:XM_376284, RefSeq RNA:XM_930455, RefSeq RNA:XM_934880, RefSeq RNA:XM_934886, RefSeq RNA:XM_941532, RefSeq RNA:XM_942268, RefSeq RNA:XM_945859, RefSeq RNA:XM_945861, RefSeq RNA:XM_945862 No chr3 167967310 168548387 168249522 168830599 +PA27668 25975 HGNC:3235 ENSG00000198759 EGF like domain multiple 6 EGFL6 EGF-like-domain, multiple 6 MAEG Yes No Ensembl:ENSG00000198759, GenAtlas:EGFL6, GeneCard:EGFL6, HGNC:HGNC:3235, ModBase:Q8IUX8, NCBI Gene:25975, OMIM:300239, RefSeq DNA:NG_015963, RefSeq DNA:NT_167197, RefSeq Protein:NP_001161362, RefSeq Protein:NP_056322, RefSeq RNA:NM_001167890, RefSeq RNA:NM_015507, UCSC Genome Browser:NM_015507, UniProtKB:Q8IUX8 No chrX 13587694 13651694 13569575 13633575 +PA134928613 51162 HGNC:20594 ENSG00000172889 EGF like domain multiple 7 EGFL7 EGF-like-domain, multiple 7 ZNEU1 Yes No Ensembl:ENSG00000172889, GeneCard:EGFL7, HGNC:HGNC:20594, HumanCyc Gene:HS10586, ModBase:Q9UHF1, NCBI Gene:51162, OMIM:608582, RefSeq DNA:NT_024000, RefSeq Protein:NP_057299, RefSeq Protein:NP_958854, RefSeq RNA:NM_016215, RefSeq RNA:NM_201446, UniProtKB:Q9UHF1 No chr9 139553308 139567130 136654753 136672678 +PA38372 80864 HGNC:13944 ENSG00000168452, ENSG00000206329, ENSG00000221988, ENSG00000227600, ENSG00000231618, ENSG00000236649, ENSG00000239974, ENSG00000240389, ENSG00000240592, ENSG00000241404, ENSG00000243897, ENSG00000244444 EGF like domain multiple 8 EGFL8 EGF-like-domain, multiple 8 C6orf8, NG3 Yes No Ensembl:ENSG00000168452, Ensembl:ENSG00000206329, Ensembl:ENSG00000221988, Ensembl:ENSG00000227600, Ensembl:ENSG00000231618, Ensembl:ENSG00000236649, Ensembl:ENSG00000239974, Ensembl:ENSG00000240389, Ensembl:ENSG00000240592, Ensembl:ENSG00000241404, Ensembl:ENSG00000243897, Ensembl:ENSG00000244444, GeneCard:EGFL8, HGNC:HGNC:13944, HumanCyc Gene:HS09763, ModBase:Q99944, NCBI Gene:80864, OMIM:609897, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_085155, RefSeq RNA:NM_030652, RefSeq RNA:NR_037860, UCSC Genome Browser:NM_030652, UniProtKB:Q99944 No chr6 32132382 32136062 32164605 32168285 +PA147358056 133584 HGNC:26810 ENSG00000164318 EGF like, fibronectin type III and laminin G domains EGFLAM """EGF-like, fibronectin type III and laminin G domains"", ""agrin-like"", ""pikachurin""" AGRINL, AGRNL, FLJ39155, PIKA Yes No Ensembl:ENSG00000164318, GeneCard:EGFLAM, HGNC:HGNC:26810, HumanCyc Gene:HS15184, NCBI Gene:133584, RefSeq DNA:NT_006576, RefSeq Protein:NP_001192230, RefSeq Protein:NP_689616, RefSeq Protein:NP_877950, RefSeq Protein:NP_877951, RefSeq Protein:NP_877953, RefSeq RNA:NM_001205301, RefSeq RNA:NM_152403, RefSeq RNA:NM_182798, RefSeq RNA:NM_182799, RefSeq RNA:NM_182801, UniProtKB:Q63HQ2 No chr5 38258511 38465582 38258409 38465480 +PA7360 1956 HGNC:3236 ENSG00000146648 epidermal growth factor receptor EGFR erb-b2 receptor tyrosine kinase 1, erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian) ERBB, ERBB1, ERRP Yes Yes Comparative Toxicogenomics Database:1956, Ensembl:ENSG00000146648, GenAtlas:EGFR, GeneCard:EGFR, HGNC:HGNC:3236, HumanCyc Gene:HS07358, ModBase:Q9GZX1, NCBI Gene:1956, OMIM:131550, OMIM:211980, RefSeq DNA:NG_007726, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_005219, RefSeq Protein:NP_958439, RefSeq Protein:NP_958440, RefSeq Protein:NP_958441, RefSeq RNA:NM_005228, RefSeq RNA:NM_201282, RefSeq RNA:NM_201283, RefSeq RNA:NM_201284, UCSC Genome Browser:NM_005228, UniProtKB:P00533 No chr7 55086678 55279262 55019032 55207338 +PA27670 54583 HGNC:1232 ENSG00000135766 egl-9 family hypoxia inducible factor 1 EGLN1 HIF prolyl hydroxylase 2, egl nine homolog 1 (C. elegans), egl-9 family hypoxia-inducible factor 1 C1orf12, HIFPH2, PHD2, SM-20, ZMYND6 Yes No Comparative Toxicogenomics Database:54583, Ensembl:ENSG00000135766, GenAtlas:EGLN1, GeneCard:EGLN1, HGNC:HGNC:1232, HumanCyc Gene:HS06060, ModBase:Q9GZT9, NCBI Gene:54583, OMIM:606425, OMIM:609820, RefSeq DNA:NG_015865, RefSeq DNA:NT_167186, RefSeq Protein:NP_071334, RefSeq RNA:NM_022051, UCSC Genome Browser:NM_022051, UniProtKB:Q9GZT9 No chr1 231499497 231560790 231363751 231425044 +PA27671 112398 HGNC:14660 ENSG00000269858 egl-9 family hypoxia inducible factor 2 EGLN2 HIF prolyl hydroxylase 1, egl nine homolog 2 (C. elegans), egl-9 family hypoxia-inducible factor 2 HIFPH1, PHD1 Yes Yes Ensembl:ENSG00000269858, GenAtlas:EGLN2, GeneCard:EGLN2, HGNC:HGNC:14660, HumanCyc Gene:HS10346, ModBase:Q96KS0, NCBI Gene:112398, OMIM:606424, RefSeq DNA:NG_000008, RefSeq DNA:NT_011109, RefSeq Protein:NP_444274, RefSeq Protein:NP_542770, RefSeq RNA:NM_053046, RefSeq RNA:NM_080732, UCSC Genome Browser:NM_017555, UniProtKB:Q96KS0 No chr19 41305048 41314346 40799143 40808441 +PA27672 112399 HGNC:14661 ENSG00000129521 egl-9 family hypoxia inducible factor 3 EGLN3 HIF prolyl hydroxylase 3, egl nine homolog 3 (C. elegans), egl-9 family hypoxia-inducible factor 3 HIFPH3, PHD3 Yes Yes Comparative Toxicogenomics Database:112399, Ensembl:ENSG00000129521, GenAtlas:EGLN3, GeneCard:EGLN3, HGNC:HGNC:14661, HumanCyc Gene:HS05289, ModBase:Q9H6Z9, NCBI Gene:112399, OMIM:606426, RefSeq DNA:NT_026437, RefSeq Protein:NP_071356, RefSeq RNA:NM_022073, UCSC Genome Browser:NM_022073, UniProtKB:Q9H6Z9 No chr14 34393421 34420284 33924215 33951078 +PA165697115 100126791 HGNC:37129 ENSG00000235947 eosinophil granule ontogeny transcript (non-protein coding) EGOT eosinophil granule ontogeny, non-protein coding RNA 190 EGO, NCRNA00190 Yes No Ensembl:ENSG00000235947, GeneCard:EGOT, HGNC:HGNC:37129, NCBI Gene:100126791, OMIM:611662, RefSeq DNA:NT_022517, RefSeq RNA:NR_004428 No chr3 4790876 4793274 4749192 4751590 +PA27673 1958 HGNC:3238 ENSG00000120738 early growth response 1 EGR1 early growth response protein 1, nerve growth factor-induced protein A, transcription factor ETR103, zinc finger gene 225, zinc finger protein 225 225, AT225, G0S30, KROX-24, NGFI-A, TIS8, ZIF-268, ZNF225 Yes No Comparative Toxicogenomics Database:1958, Ensembl:ENSG00000120738, GenAtlas:EGR1, GeneCard:EGR1, HGNC:HGNC:3238, HumanCyc Gene:HS04431, ModBase:P18146, NCBI Gene:1958, OMIM:128990, RefSeq DNA:NG_021374, RefSeq DNA:NT_034772, RefSeq Protein:NP_001955, RefSeq RNA:NM_001964, UCSC Genome Browser:NM_001964, UniProtKB:P18146, UniProtKB:Q546S1 No chr5 137801181 137805004 138465492 138469315 +PA27674 1959 HGNC:3239 ENSG00000122877 early growth response 2 EGR2 Krox-20 homolog, Drosophila KROX20 Yes No Comparative Toxicogenomics Database:1959, Ensembl:ENSG00000122877, GenAtlas:EGR2, GeneCard:EGR2, HGNC:HGNC:3239, HumanCyc Gene:HS04611, ModBase:P11161, NCBI Gene:1959, OMIM:129010, OMIM:145900, OMIM:605253, OMIM:607678, RefSeq DNA:NG_008936, RefSeq DNA:NT_030059, RefSeq Protein:NP_000390, RefSeq Protein:NP_001129649, RefSeq Protein:NP_001129650, RefSeq Protein:NP_001129651, RefSeq RNA:NM_000399, RefSeq RNA:NM_001136177, RefSeq RNA:NM_001136178, RefSeq RNA:NM_001136179, UCSC Genome Browser:NM_000399, UniProtKB:P11161 No chr10 64571756 64578927 62811996 62819167 +PA27675 1960 HGNC:3240 ENSG00000179388 early growth response 3 EGR3 zinc finger protein pilot PILOT Yes No Comparative Toxicogenomics Database:1960, Ensembl:ENSG00000179388, GenAtlas:EGR3, GeneCard:EGR3, HGNC:HGNC:3240, HumanCyc Gene:HS11376, ModBase:Q06889, NCBI Gene:1960, OMIM:602419, RefSeq DNA:NT_167187, RefSeq Protein:NP_001186809, RefSeq Protein:NP_001186810, RefSeq Protein:NP_004421, RefSeq RNA:NM_001199880, RefSeq RNA:NM_001199881, RefSeq RNA:NM_004430, UCSC Genome Browser:NM_004430, UniProtKB:Q06889 No chr8 22545172 22550815 22687661 22693302 +PA27676 1961 HGNC:3241 ENSG00000135625 early growth response 4 EGR4 NGFI-C, PAT133 Yes No Comparative Toxicogenomics Database:1961, Ensembl:ENSG00000135625, GenAtlas:EGR4, GeneCard:EGR4, HGNC:HGNC:3241, HumanCyc Gene:HS06039, ModBase:Q05215, NCBI Gene:1961, OMIM:128992, RefSeq DNA:NT_022184, RefSeq Protein:NP_001956, RefSeq RNA:NM_001965, UCSC Genome Browser:NM_001965, UniProtKB:B2RAE3, UniProtKB:B7ZKU3 No chr2 73518057 73520829 73290929 73293701 +PA128394620 23301 HGNC:29144 ENSG00000115504 EH domain binding protein 1 EHBP1 KIAA0903, NACSIN Yes No Comparative Toxicogenomics Database:23301, Ensembl:ENSG00000115504, GeneCard:EHBP1, HGNC:HGNC:29144, HumanCyc Gene:HS12846, ModBase:Q9NWI9, NCBI Gene:23301, OMIM:609922, OMIM:611868, RefSeq DNA:NG_016758, RefSeq DNA:NT_022184, RefSeq Protein:NP_001136086, RefSeq Protein:NP_001136087, RefSeq Protein:NP_001136088, RefSeq Protein:NP_056067, RefSeq RNA:NM_001142614, RefSeq RNA:NM_001142615, RefSeq RNA:NM_001142616, RefSeq RNA:NM_015252, UCSC Genome Browser:NM_015252, UniProtKB:A8K930, UniProtKB:Q8NDI1 No chr2 62900986 63273622 62673851 63046487 +PA134871712 254102 HGNC:30682 ENSG00000173442 EH domain binding protein 1 like 1 EHBP1L1 EH domain binding protein 1-like 1 DKFZp762C186, TANGERIN Yes No Comparative Toxicogenomics Database:254102, Ensembl:ENSG00000173442, GeneCard:EHBP1L1, HGNC:HGNC:30682, ModBase:Q8N3D4, NCBI Gene:254102, RefSeq DNA:NT_167190, RefSeq Protein:NP_001092879, RefSeq RNA:NM_001099409, UniProtKB:Q8N3D4 No chr11 65343509 65360121 65576034 65592650 +PA27677 10938 HGNC:3242 ENSG00000110047 EH domain containing 1 EHD1 EH-domain containing 1, testilin FLJ42622, FLJ44618, H-PAST, HPAST1, PAST1 Yes No Comparative Toxicogenomics Database:10938, Ensembl:ENSG00000110047, GenAtlas:EHD1, GeneCard:EHD1, HGNC:HGNC:3242, HumanCyc Gene:HS03280, ModBase:Q9H4M9, NCBI Gene:10938, OMIM:605888, RefSeq DNA:NT_167190, RefSeq Protein:NP_006786, RefSeq RNA:NM_006795, UCSC Genome Browser:NM_006795, UniProtKB:B2R5U3, UniProtKB:Q9H4M9 No chr11 64620206 64647181 64852727 64879713 +PA27678 30846 HGNC:3243 ENSG00000024422 EH domain containing 2 EHD2 EH-domain containing 2 PAST2 Yes No Comparative Toxicogenomics Database:30846, Ensembl:ENSG00000024422, GenAtlas:EHD2, GeneCard:EHD2, HGNC:HGNC:3243, HumanCyc Gene:HS00435, ModBase:Q9NZN4, NCBI Gene:30846, OMIM:605890, RefSeq DNA:NT_011109, RefSeq Protein:NP_055416, RefSeq RNA:NM_014601, UCSC Genome Browser:NM_014601, UniProtKB:Q9NZN4 No chr19 48216601 48246391 47713344 47743134 +PA27679 30845 HGNC:3244 ENSG00000013016 EH domain containing 3 EHD3 EH-domain containing 3 PAST3 Yes No Comparative Toxicogenomics Database:30845, Ensembl:ENSG00000013016, GenAtlas:EHD3, GeneCard:EHD3, HGNC:HGNC:3244, HumanCyc Gene:HS00339, ModBase:Q9NZN3, NCBI Gene:30845, OMIM:605891, RefSeq DNA:NT_022184, RefSeq Protein:NP_055415, RefSeq RNA:NM_014600, UCSC Genome Browser:NM_014600, UniProtKB:B4DFR5, UniProtKB:Q9NZN3 No chr2 31456880 31491260 31234014 31269451 +PA27680 30844 HGNC:3245 ENSG00000103966 EH domain containing 4 EHD4 EH-domain containing 4 PAST4 Yes No Comparative Toxicogenomics Database:30844, Ensembl:ENSG00000103966, GenAtlas:EHD4, GeneCard:EHD4, HGNC:HGNC:3245, HumanCyc Gene:HS02538, ModBase:Q9H223, NCBI Gene:30844, OMIM:605892, RefSeq DNA:NT_010194, RefSeq Protein:NP_644670, RefSeq RNA:NM_139265, UCSC Genome Browser:NM_139265, UniProtKB:A8K9B9, UniProtKB:Q9H223 No chr15 42191638 42264755 41899440 41972557 +PA27681 26298 HGNC:3246 ENSG00000135373 ETS homologous factor EHF ESE3 transcription factor, epithelium-specific ets factor 3, ets homologous factor ESE3, ESEJ Yes Yes Comparative Toxicogenomics Database:26298, Ensembl:ENSG00000135373, GenAtlas:EHF, GeneCard:EHF, HGNC:HGNC:3246, HumanCyc Gene:HS05990, ModBase:Q9NZC4, NCBI Gene:26298, OMIM:605439, RefSeq DNA:NT_009237, RefSeq Protein:NP_001193544, RefSeq Protein:NP_001193545, RefSeq Protein:NP_036285, RefSeq RNA:NM_001206615, RefSeq RNA:NM_001206616, RefSeq RNA:NM_012153, UCSC Genome Browser:NM_012153, UniProtKB:Q9NZC4 No chr11 34642588 34684835 34621041 34663288 +PA27682 1962 HGNC:3247 ENSG00000113790 enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase ECHD Yes No Comparative Toxicogenomics Database:1962, Ensembl:ENSG00000113790, GenAtlas:EHHADH, GeneCard:EHHADH, HGNC:HGNC:3247, HumanCyc Gene:HS03720, ModBase:Q08426, NCBI Gene:1962, OMIM:607037, RefSeq DNA:NG_015999, RefSeq DNA:NT_005612, RefSeq Protein:NP_001159887, RefSeq Protein:NP_001957, RefSeq RNA:NM_001166415, RefSeq RNA:NM_001966, UCSC Genome Browser:NM_001966, UniProtKB:B4DWG3, UniProtKB:Q08426 No chr3 184908412 184971886 185190624 185282886 +PA134941393 79813 HGNC:24650 ENSG00000181090 euchromatic histone lysine methyltransferase 1 EHMT1 euchromatic histone-lysine N-methyltransferase 1 EHMT1-IT1, Eu-HMTase1, FLJ12879, FLJ40292, GLP, KIAA1876, KMT1D, bA188C12.1 Yes No Comparative Toxicogenomics Database:79813, Ensembl:ENSG00000181090, GeneCard:EHMT1, HGNC:HGNC:24650, HumanCyc Gene:HS09291, ModBase:Q9H9B1, NCBI Gene:79813, OMIM:607001, OMIM:610253, RefSeq DNA:NG_011776, RefSeq DNA:NT_024000, RefSeq Protein:NP_001138999, RefSeq Protein:NP_079033, RefSeq RNA:NM_001145527, RefSeq RNA:NM_024757, UniProtKB:Q86X08, UniProtKB:Q9H9B1 No chr9 140513444 140730579 137618988 137836127 +PA25267 10919 HGNC:14129 ENSG00000204371, ENSG00000206376, ENSG00000227333, ENSG00000236759 euchromatic histone lysine methyltransferase 2 EHMT2 euchromatic histone-lysine N-methyltransferase 2 BAT8, C6orf30, Em:AF134726.3, G9A, KMT1C, NG36/G9a Yes Yes Comparative Toxicogenomics Database:10919, Ensembl:ENSG00000204371, Ensembl:ENSG00000206376, Ensembl:ENSG00000227333, Ensembl:ENSG00000236759, GenAtlas:EHMT2, GeneCard:EHMT2, HGNC:HGNC:14129, HumanCyc Gene:HS06313, ModBase:Q96KQ7, NCBI Gene:10919, OMIM:604599, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_006700, RefSeq Protein:NP_079532, RefSeq RNA:NM_006709, RefSeq RNA:NM_025256, UCSC Genome Browser:NM_006709, UniProtKB:Q96KQ7 No chr6 31847536 31865464 31879759 31897707 +PA134937367 9538 HGNC:13276 ENSG00000149547 EI24 autophagy associated transmembrane protein EI24 """EI24, autophagy associated transmembrane protein"", ""ectopic P-granules autophagy protein 4 homolog (C. elegans)"", ""etoposide induced 2.4""" EPG4, PIG8, TP53I8 Yes No Comparative Toxicogenomics Database:9538, Ensembl:ENSG00000149547, GeneCard:EI24, HGNC:HGNC:13276, HumanCyc Gene:HS07625, NCBI Gene:9538, OMIM:605170, RefSeq DNA:NT_033899, RefSeq Protein:NP_001007278, RefSeq Protein:NP_004870, RefSeq RNA:NM_001007277, RefSeq RNA:NM_004879, UniProtKB:O14681 No chr11 125439298 125454575 125569216 125584689 +PA26876 23741 HGNC:1191 ENSG00000255302 EP300 interacting inhibitor of differentiation 1 EID1 C15orf3, CRI1, EID-1 Yes No Comparative Toxicogenomics Database:23741, Ensembl:ENSG00000255302, GenAtlas:CRI1, GeneCard:CRI1, GeneCard:EID1, HGNC:HGNC:1191, ModBase:Q9Y6B2, NCBI Gene:23741, OMIM:605894, RefSeq DNA:NT_010194, RefSeq Protein:NP_055150, RefSeq RNA:NM_014335, UCSC Genome Browser:NM_014335, UniProtKB:Q9Y6B2 No chr15 49170290 49172380 48878093 48880183 +PA162384544 163126 HGNC:28292 ENSG00000176396 EP300 interacting inhibitor of differentiation 2 EID2 CRI2, EID-2, MGC20452 Yes No Ensembl:ENSG00000176396, GeneCard:EID2, HGNC:HGNC:28292, HumanCyc Gene:HS11047, ModBase:Q8N6I1, NCBI Gene:163126, OMIM:609773, RefSeq DNA:NT_011109, RefSeq Protein:NP_694964, RefSeq RNA:NM_153232, UniProtKB:Q8N6I1 No chr19 40029446 40030838 39538806 39540198 +PA162384551 126272 HGNC:26796 ENSG00000176401 EP300 interacting inhibitor of differentiation 2B EID2B EID-3, FLJ38944 Yes No Ensembl:ENSG00000176401, GeneCard:EID2B, HGNC:HGNC:26796, HumanCyc Gene:HS16650, NCBI Gene:126272, RefSeq DNA:NT_011109, RefSeq Protein:NP_689574, RefSeq RNA:NM_152361, UniProtKB:Q96D98 No chr19 40021630 40023494 39531533 39532867 +PA162384552 493861 HGNC:32961 ENSG00000255150 EP300 interacting inhibitor of differentiation 3 EID3 NSE4 homolog B FLJ25832, NSE4B, NSMCE4B Yes No Ensembl:ENSG00000255150, GeneCard:EID3, HGNC:HGNC:32961, ModBase:Q8N140, NCBI Gene:493861, OMIM:612986, RefSeq DNA:NT_029419, RefSeq Protein:NP_001008395, RefSeq RNA:NM_001008394, UniProtKB:Q8N140 No chr12 104697510 104698983 104303732 104305205 +PA27683 10209 HGNC:3249 ENSG00000173812 eukaryotic translation initiation factor 1 EIF1 A121, EIF-1, EIF1A, ISO1, SUI1 Yes No Comparative Toxicogenomics Database:10209, Ensembl:ENSG00000173812, GenAtlas:EIF1, GeneCard:EIF1, HGNC:HGNC:3249, HumanCyc Gene:HS10734, ModBase:P41567, NCBI Gene:10209, RefSeq DNA:NT_010783, RefSeq Protein:NP_005792, RefSeq RNA:NM_005801, UniProtKB:P41567, UniProtKB:Q6IAV3 No chr17 39845127 39847898 41688875 41691646 +PA162384553 84285 HGNC:28147 ENSG00000175376 eukaryotic translation initiation factor 1A domain containing EIF1AD MGC11102, haponin Yes No Ensembl:ENSG00000175376, GeneCard:EIF1AD, HGNC:HGNC:28147, HumanCyc Gene:HS10921, ModBase:Q8N9N8, NCBI Gene:84285, RefSeq DNA:NT_167190, RefSeq Protein:NP_001229410, RefSeq Protein:NP_001229411, RefSeq Protein:NP_001229412, RefSeq Protein:NP_001229413, RefSeq Protein:NP_001229414, RefSeq Protein:NP_001229415, RefSeq Protein:NP_115701, RefSeq RNA:NM_001242481, RefSeq RNA:NM_001242482, RefSeq RNA:NM_001242483, RefSeq RNA:NM_001242484, RefSeq RNA:NM_001242485, RefSeq RNA:NM_001242486, RefSeq RNA:NM_032325, UniProtKB:Q8N9N8 No chr11 65764016 65769637 65996545 66002217 +PA27684 1964 HGNC:3250 ENSG00000173674 eukaryotic translation initiation factor 1A X-linked EIF1AX eukaryotic translation initiation factor 1A, X-linked EIF1A, EIF4C, eIF-1A, eIF-4C Yes No Comparative Toxicogenomics Database:1964, Ensembl:ENSG00000173674, GenAtlas:EIF1AX, GeneCard:EIF1AX, HGNC:HGNC:3250, HumanCyc Gene:HS10710, ModBase:P47813, NCBI Gene:1964, OMIM:300186, RefSeq DNA:NT_167197, RefSeq Protein:NP_001403, RefSeq RNA:NM_001412, UCSC Genome Browser:NM_001412, UniProtKB:P47813 No chrX 20142636 20159966 20124518 20141848 +PA134971571 280661 HGNC:19900 ENSG00000236698 eukaryotic translation initiation factor 1A, X-linked pseudogene 1 EIF1AXP1 Yes No Ensembl:ENSG00000236698, HGNC:HGNC:19900, NCBI Gene:280661, RefSeq DNA:NG_002419, RefSeq DNA:NT_004873 No chr1 17009586 17012744 16683091 16686249 +PA27686 9086 HGNC:3252 ENSG00000198692 eukaryotic translation initiation factor 1A Y-linked EIF1AY eukaryotic translation initiation factor 1A, Y-linked Yes No Comparative Toxicogenomics Database:9086, Ensembl:ENSG00000198692, GenAtlas:EIF1AY, GeneCard:EIF1AY, HGNC:HGNC:3252, ModBase:O14602, NCBI Gene:9086, OMIM:400014, RefSeq DNA:NT_011875, RefSeq Protein:NP_004672, RefSeq RNA:NM_004681, UCSC Genome Browser:NM_004681, UniProtKB:O14602 No chrY 22737597 22755040 20575711 20593154 +PA143485452 10289 HGNC:30792 ENSG00000114784 eukaryotic translation initiation factor 1B EIF1B GC20 Yes No Comparative Toxicogenomics Database:10289, Ensembl:ENSG00000114784, GeneCard:EIF1B, HGNC:HGNC:30792, HumanCyc Gene:HS03799, ModBase:O60739, NCBI Gene:10289, RefSeq DNA:NT_022517, RefSeq Protein:NP_005866, RefSeq RNA:NM_005875, UniProtKB:O60739, UniProtKB:Q6FG85 No chr3 40351173 40353915 40309682 40312424 +PA143485453 83939 HGNC:3254 ENSG00000144895 eukaryotic translation initiation factor 2A EIF2A eukaryotic translation initiation factor 2A, 65kDa EIF-2A Yes No Comparative Toxicogenomics Database:83939, Ensembl:ENSG00000144895, GeneCard:EIF2A, HGNC:HGNC:3254, HumanCyc Gene:HS14062, ModBase:Q9BY44, NCBI Gene:83939, OMIM:609234, RefSeq DNA:NT_005612, RefSeq Protein:NP_114414, RefSeq RNA:NM_032025, UniProtKB:Q9BY44 No chr3 150264465 150303803 150546678 150586016 +PA134919097 27102 HGNC:24921 ENSG00000086232 eukaryotic translation initiation factor 2 alpha kinase 1 EIF2AK1 Heme-regulated inhibitor, eukaryotic translation initiation factor 2-alpha kinase 1, heme regulated initiation factor 2 alpha kinase, hemin-controlled repressor HCR, HRI, KIAA1369, hHRI Yes No Ensembl:ENSG00000086232, GeneCard:EIF2AK1, HGNC:HGNC:24921, HumanCyc Gene:HS01526, ModBase:Q9BQI3, NCBI Gene:27102, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001127807, RefSeq Protein:NP_055228, RefSeq RNA:NM_001134335, RefSeq RNA:NM_014413, UniProtKB:Q549K6, UniProtKB:Q9BQI3 No chr7 6061878 6098860 6022247 6059229 +PA33779 5610 HGNC:9437 ENSG00000055332 eukaryotic translation initiation factor 2 alpha kinase 2 EIF2AK2 """Protein Kinase R"", ""Protein Kinase RNA-activated"", ""eukaryotic translation initiation factor 2-alpha kinase 2"", ""protein kinase RNA-regulated"", ""protein phosphatase 1, regulatory subunit 83""" EIF2AK1, PKR, PPP1R83, PRKR Yes No Comparative Toxicogenomics Database:5610, Ensembl:ENSG00000055332, GenAtlas:EIF2AK2, GeneCard:EIF2AK2, HGNC:HGNC:9437, HumanCyc Gene:HS00683, ModBase:P19525, NCBI Gene:5610, OMIM:176871, RefSeq DNA:NT_022184, RefSeq Protein:NP_001129123, RefSeq Protein:NP_001129124, RefSeq Protein:NP_002750, RefSeq RNA:NM_001135651, RefSeq RNA:NM_001135652, RefSeq RNA:NM_002759, UCSC Genome Browser:NM_002759, UniProtKB:P19525, UniProtKB:Q05CP4, UniProtKB:Q7Z6F6, UniProtKB:Q8IW76 No chr2 37332281 37384190 37099210 37157065 +PA27687 9451 HGNC:3255 ENSG00000172071 eukaryotic translation initiation factor 2 alpha kinase 3 EIF2AK3 PKR-like ER kinase, PRKR-like endoplasmic reticulum kinase, eukaryotic translation initiation factor 2-alpha kinase 3, pancreatic eIF-2alpha kinase PEK, PERK Yes No Comparative Toxicogenomics Database:9451, Ensembl:ENSG00000172071, GenAtlas:EIF2AK3, GeneCard:EIF2AK3, HGNC:HGNC:3255, HumanCyc Gene:HS10447, ModBase:Q9NZJ5, NCBI Gene:9451, OMIM:226980, OMIM:604032, RefSeq DNA:NG_016424, RefSeq DNA:NT_022184, RefSeq Protein:NP_004827, RefSeq RNA:NM_004836, UCSC Genome Browser:NM_004836, UniProtKB:B3KY45, UniProtKB:Q9NZJ5 No chr2 88856259 88927094 88556740 88627576 +PA134947616 440275 HGNC:19687 ENSG00000128829 eukaryotic translation initiation factor 2 alpha kinase 4 EIF2AK4 eIF-2-alpha kinase GCN2, KIAA1338 Yes Yes Comparative Toxicogenomics Database:440275, Ensembl:ENSG00000128829, GeneCard:EIF2AK4, HGNC:HGNC:19687, ModBase:Q9P2K8, NCBI Gene:440275, OMIM:609280, RefSeq DNA:NT_010194, RefSeq Protein:NP_001013725, RefSeq RNA:NM_001013703, UniProtKB:Q9P2K8 No chr15 40226331 40327797 39934101 40035596 +PA27688 1967 HGNC:3257 ENSG00000111361 eukaryotic translation initiation factor 2B subunit alpha EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa EIF-2B, EIF-2Balpha, EIF2B, EIF2BA, EIF2Balpha Yes No Comparative Toxicogenomics Database:1967, Ensembl:ENSG00000111361, GenAtlas:EIF2B1, GeneCard:EIF2B1, HGNC:HGNC:3257, HumanCyc Gene:HS03411, ModBase:Q14232, NCBI Gene:1967, OMIM:603896, OMIM:606686, RefSeq DNA:NG_015862, RefSeq DNA:NT_009755, RefSeq Protein:NP_001405, RefSeq RNA:NM_001414, UCSC Genome Browser:NM_001414, UniProtKB:Q14232 No chr12 124105570 124118323 123621023 123633776 +PA27689 8892 HGNC:3258 ENSG00000119718 eukaryotic translation initiation factor 2B subunit beta EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa EIF-2Bbeta, EIF2B, EIF2Bbeta Yes No Comparative Toxicogenomics Database:8892, Ensembl:ENSG00000119718, GenAtlas:EIF2B2, GeneCard:EIF2B2, HGNC:HGNC:3258, HumanCyc Gene:HS04332, ModBase:P49770, NCBI Gene:8892, OMIM:603896, OMIM:606454, RefSeq DNA:NG_013333, RefSeq DNA:NT_026437, RefSeq Protein:NP_055054, RefSeq RNA:NM_014239, UCSC Genome Browser:NM_014239, UniProtKB:P49770, UniProtKB:Q53XC2 No chr14 75469612 75476294 75002909 75009591 +PA27690 8891 HGNC:3259 ENSG00000070785 eukaryotic translation initiation factor 2B subunit gamma EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa EIF-2B, EIF2Bgamma Yes No Comparative Toxicogenomics Database:8891, Ensembl:ENSG00000070785, GenAtlas:EIF2B3, GeneCard:EIF2B3, HGNC:HGNC:3259, HumanCyc Gene:HS01012, ModBase:Q9NR50, NCBI Gene:8891, OMIM:603896, OMIM:606273, RefSeq DNA:NG_015864, RefSeq DNA:NT_032977, RefSeq Protein:NP_001160060, RefSeq Protein:NP_065098, RefSeq RNA:NM_001166588, RefSeq RNA:NM_020365, UCSC Genome Browser:NM_020365, UniProtKB:Q9HA31, UniProtKB:Q9NR50 No chr1 45316194 45452394 44850522 44986722 +PA27691 8890 HGNC:3260 ENSG00000115211 eukaryotic translation initiation factor 2B subunit delta EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa DKFZP586J0119, EIF-2B, EIF2B, EIF2Bdelta Yes No Comparative Toxicogenomics Database:8890, Ensembl:ENSG00000115211, GenAtlas:EIF2B4, GeneCard:EIF2B4, HGNC:HGNC:3260, HumanCyc Gene:HS03848, ModBase:Q9UI10, NCBI Gene:8890, OMIM:603896, OMIM:606687, RefSeq DNA:NG_009305, RefSeq DNA:NT_022184, RefSeq Protein:NP_001029288, RefSeq Protein:NP_056451, RefSeq Protein:NP_751945, RefSeq RNA:NM_001034116, RefSeq RNA:NM_015636, RefSeq RNA:NM_172195, UCSC Genome Browser:NM_015636, UniProtKB:Q53RY7, UniProtKB:Q9UI10 No chr2 27587219 27593324 27364352 27370457 +PA27692 8893 HGNC:3261 ENSG00000145191 eukaryotic translation initiation factor 2B subunit epsilon EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa EIF-2B, EIF2Bepsilon Yes No Comparative Toxicogenomics Database:8893, Ensembl:ENSG00000145191, GenAtlas:EIF2B5, GeneCard:EIF2B5, HGNC:HGNC:3261, HumanCyc Gene:HS07230, ModBase:Q13144, NCBI Gene:8893, OMIM:603896, OMIM:603945, RefSeq DNA:NG_015826, RefSeq DNA:NT_005612, RefSeq Protein:NP_003898, RefSeq RNA:NM_003907, UCSC Genome Browser:NM_003907, UniProtKB:Q13144 No chr3 183852810 183863099 184134435 184145311 +PA30355 1939 HGNC:6583 ENSG00000143486 eukaryotic translation initiation factor 2D EIF2D LGTN Yes No Ensembl:ENSG00000143486, GenAtlas:LGTN, GeneCard:LGTN, HGNC:HGNC:6583, HumanCyc Gene:HS07064, ModBase:Q9NZ21, NCBI Gene:1939, OMIM:151625, RefSeq DNA:NT_167186, RefSeq Protein:NP_001188407, RefSeq Protein:NP_008824, RefSeq RNA:NM_001201478, RefSeq RNA:NM_006893, UCSC Genome Browser:NM_006893, UniProtKB:P41214 No chr1 206764974 206785904 206572485 206612551 +PA27695 1965 HGNC:3265 ENSG00000134001 eukaryotic translation initiation factor 2 subunit alpha EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa EIF-2alpha, EIF2, EIF2A Yes No Comparative Toxicogenomics Database:1965, Ensembl:ENSG00000134001, GenAtlas:EIF2S1, GeneCard:EIF2S1, HGNC:HGNC:3265, HumanCyc Gene:HS05801, ModBase:P05198, NCBI Gene:1965, OMIM:603907, RefSeq DNA:NT_026437, RefSeq Protein:NP_004085, RefSeq RNA:NM_004094, UCSC Genome Browser:NM_004094, UniProtKB:P05198, UniProtKB:Q53XC0 No chr14 67827034 67853233 67360317 67386516 +PA27696 8894 HGNC:3266 ENSG00000125977 eukaryotic translation initiation factor 2 subunit beta EIF2S2 """eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa"", ""protein phosphatase 1, regulatory subunit 67""" EIF2, EIF2beta, PPP1R67 Yes No Comparative Toxicogenomics Database:8894, Ensembl:ENSG00000125977, GenAtlas:EIF2S2, GeneCard:EIF2S2, HGNC:HGNC:3266, HumanCyc Gene:HS04983, ModBase:P20042, NCBI Gene:8894, OMIM:603908, RefSeq DNA:NT_011362, RefSeq Protein:NP_003899, RefSeq RNA:NM_003908, UCSC Genome Browser:NM_003908, UniProtKB:P20042, UniProtKB:Q6IBR8 No chr20 32676115 32700085 34088298 34112356 +PA134919578 319115 HGNC:20009 ENSG00000258778 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 1 EIF2S2P1 Yes No Ensembl:ENSG00000258778, HGNC:HGNC:20009, NCBI Gene:319115, RefSeq DNA:NG_002496, RefSeq DNA:NT_026437 No chr14 64201393 64202937 63734675 63736219 +PA134878906 347673 HGNC:24654 ENSG00000229704 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 2 EIF2S2P2 eukaryotic translation initiation factor 2 beta-like pseudogene bcm2636 Yes No Ensembl:ENSG00000229704, GeneCard:EIF2S2P2, HGNC:HGNC:24654, NCBI Gene:347673, RefSeq DNA:NG_002696, RefSeq DNA:NT_005612 No chr3 184962954 184964355 185245166 185246567 +PA134920594 283014 HGNC:31664 ENSG00000236493 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 3 EIF2S2P3 Yes No Ensembl:ENSG00000236493, HGNC:HGNC:31664, NCBI Gene:283014 No chr10 94428208 94429599 92668451 92669847 +PA27697 1968 HGNC:3267 ENSG00000130741 eukaryotic translation initiation factor 2 subunit gamma EIF2S3 """eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa"", ""eukaryotic translation initiation factor 2G""" EIF2, EIF2G, EIF2gamma Yes No Comparative Toxicogenomics Database:1968, Ensembl:ENSG00000130741, GenAtlas:EIF2S3, GeneCard:EIF2S3, HGNC:HGNC:3267, HumanCyc Gene:HS05434, ModBase:P41091, NCBI Gene:1968, OMIM:300161, RefSeq DNA:NG_016387, RefSeq DNA:NT_167197, RefSeq Protein:NP_001406, RefSeq RNA:NM_001415, UCSC Genome Browser:NM_001415, UniProtKB:P41091 No chrX 24073065 24096927 24054948 24078810 +PA166180608 255308 HGNC:43863 ENSG00000180574 eukaryotic translation initiation factor 2 subunit gamma B EIF2S3B eukaryotic translation initiation factor 2 subunit gamma A eIF-2-gamma2, eIF2gA Yes No Ensembl:ENSG00000180574, HGNC:HGNC:43863, NCBI Gene:255308 No 0 0 0 0 +PA27699 8661 HGNC:3271 ENSG00000107581 eukaryotic translation initiation factor 3 subunit A EIF3A eukaryotic translation initiation factor 3, subunit A EIF3, EIF3S10, KIAA0139, TIF32, eIF3-p170, eIF3-theta, eIF3a Yes Yes Comparative Toxicogenomics Database:8661, Ensembl:ENSG00000107581, GenAtlas:EIF3S10, GeneCard:EIF3S10, HGNC:HGNC:3271, NCBI Gene:8661, OMIM:602039, RefSeq DNA:NT_030059, RefSeq DNA:NT_030059.12, RefSeq Protein:NP_003741, RefSeq RNA:NM_003750, RefSeq RNA:NM_003750.2, UCSC Genome Browser:NM_003750, UniProtKB:Q14152 No chr10 120794541 120840959 119035029 119080822 +PA162384603 8662 HGNC:3280 ENSG00000106263 eukaryotic translation initiation factor 3 subunit B EIF3B """eukaryotic translation initiation factor 3, subunit B"", ""protein synthesis 1""" EIF3S9, PRT1, eIF3b Yes No Ensembl:ENSG00000106263, GeneCard:EIF3B, HGNC:HGNC:3280, HumanCyc Gene:HS02877, ModBase:P55884, NCBI Gene:8662, OMIM:603917, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001032360, RefSeq Protein:NP_003742, RefSeq RNA:NM_001037283, RefSeq RNA:NM_003751, UniProtKB:P55884 No chr7 2394474 2420380 2354540 2380745 +PA162384646 8663 HGNC:3279 ENSG00000184110 eukaryotic translation initiation factor 3 subunit C EIF3C eukaryotic translation initiation factor 3, subunit C EIF3S8, eIF3-p110, eIF3c Yes No Ensembl:ENSG00000184110, GeneCard:EIF3C, HGNC:HGNC:3279, HumanCyc Gene:HS11432, NCBI Gene:8663, OMIM:603916, RefSeq DNA:NT_010393, RefSeq Protein:NP_001032897, RefSeq Protein:NP_001186071, RefSeq Protein:NP_003743, RefSeq RNA:NM_001037808, RefSeq RNA:NM_001199142, RefSeq RNA:NM_003752, UniProtKB:Q99613 No chr16 28699879 28747051 28688558 28735730 +PA162384693 728689 HGNC:26347 ENSG00000205609 eukaryotic translation initiation factor 3 subunit C like EIF3CL eukaryotic translation initiation factor 3, subunit C-like Yes No Ensembl:ENSG00000205609, GeneCard:EIF3CL, HGNC:HGNC:26347, ModBase:Q99613, NCBI Gene:728689, RefSeq DNA:NT_010393, RefSeq Protein:NP_001093131, RefSeq RNA:NM_001099661, UniProtKB:B5ME19 No chr16 28390900 28415162 28379581 28403885 +PA162384740 8664 HGNC:3278 ENSG00000100353 eukaryotic translation initiation factor 3 subunit D EIF3D eukaryotic translation initiation factor 3, subunit D EIF3S7, eIF3-p66, eIF3-zeta, eIF3d Yes No Ensembl:ENSG00000100353, GeneCard:EIF3D, HGNC:HGNC:3278, HumanCyc Gene:HS02057, ModBase:O15371, NCBI Gene:8664, OMIM:603915, RefSeq DNA:NT_011520, RefSeq Protein:NP_003744, RefSeq RNA:NM_003753, UniProtKB:O15371 No chr22 36906897 36925277 36510850 36529431 +PA27705 3646 HGNC:3277 ENSG00000104408 eukaryotic translation initiation factor 3 subunit E EIF3E eukaryotic translation initiation factor 3, subunit E EIF3S6, INT6, eIF3-p48, eIF3e Yes No Comparative Toxicogenomics Database:3646, Ensembl:ENSG00000104408, GenAtlas:EIF3S6, GeneCard:EIF3E, GeneCard:EIF3S6, HGNC:HGNC:3277, HumanCyc Gene:HS02578, NCBI Gene:3646, OMIM:602210, RefSeq DNA:NT_008046, RefSeq Protein:NP_001559, RefSeq RNA:NM_001568, UCSC Genome Browser:NM_001568, UniProtKB:P60228 No chr8 109213972 109260959 108201743 108248802 +PA29903 3647 HGNC:6102 ENSG00000234882 eukaryotic translation initiation factor 3, subunit E pseudogene 1 EIF3EP1 Yes No Ensembl:ENSG00000234882, GeneCard:EIF3EP1, HGNC:HGNC:6102, NCBI Gene:3647, RefSeq DNA:NG_001023, RefSeq DNA:NT_007299 No chr6 74001659 74003138 73291936 73293415 +PA162384806 8665 HGNC:3275 ENSG00000175390 eukaryotic translation initiation factor 3 subunit F EIF3F eukaryotic translation initiation factor 3, subunit F EIF3S5, eIF3-epsilon, eIF3-p47, eIF3f Yes No Ensembl:ENSG00000175390, GeneCard:EIF3F, HGNC:HGNC:3275, ModBase:O00303, NCBI Gene:8665, OMIM:603914, RefSeq DNA:NT_009237, RefSeq Protein:NP_003745, RefSeq RNA:NM_003754, UniProtKB:O00303 No chr11 8008867 8017718 7987320 7996171 +PA27704 54053 HGNC:3276 ENSG00000275945 eukaryotic translation initiation factor 3, subunit F pseudogene 1 EIF3FP1 Yes No Ensembl:ENSG00000275945, GenAtlas:EIF3S5P, GeneCard:EIF3FP1, HGNC:HGNC:3276, NCBI Gene:54053, RefSeq DNA:NG_000925, RefSeq DNA:NT_029490 No chr21 11180762 11181817 10330640 10331695 +PA162384827 8666 HGNC:3274 ENSG00000130811 eukaryotic translation initiation factor 3 subunit G EIF3G eukaryotic translation initiation factor 3, subunit G EIF3S4, eIF3-delta, eIF3-p44, eIF3g Yes Yes Ensembl:ENSG00000130811, GeneCard:EIF3G, HGNC:HGNC:3274, HumanCyc Gene:HS05447, ModBase:O75821, NCBI Gene:8666, OMIM:603913, RefSeq DNA:NT_011295, RefSeq Protein:NP_003746, RefSeq RNA:NM_003755, UniProtKB:O75821 No chr19 10225690 10230599 10115014 10119923 +PA162384854 8667 HGNC:3273 ENSG00000147677 eukaryotic translation initiation factor 3 subunit H EIF3H eukaryotic translation initiation factor 3, subunit H EIF3S3, eIF3-gamma, eIF3-p40, eIF3h Yes No Ensembl:ENSG00000147677, GeneCard:EIF3H, HGNC:HGNC:3273, HumanCyc Gene:HS07465, ModBase:O15372, NCBI Gene:8667, OMIM:603912, RefSeq DNA:NT_008046, RefSeq Protein:NP_003747, RefSeq RNA:NM_003756, UniProtKB:O15372, UniProtKB:Q6IB98 No chr8 117657055 117768258 116644816 116755823 +PA162384875 8668 HGNC:3272 ENSG00000084623 eukaryotic translation initiation factor 3 subunit I EIF3I eukaryotic translation initiation factor 3, subunit I EIF3S2, TRIP-1, eIF3-beta, eIF3-p36, eIF3i Yes No Ensembl:ENSG00000084623, GeneCard:EIF3I, HGNC:HGNC:3272, HumanCyc Gene:HS01472, ModBase:Q13347, NCBI Gene:8668, OMIM:603911, RefSeq DNA:NT_032977, RefSeq Protein:NP_003748, RefSeq RNA:NM_003757, UniProtKB:Q13347, UniProtKB:Q5U0F4 No chr1 32687971 32697205 32221584 32231604 +PA162384902 8669 HGNC:3270 ENSG00000104131 eukaryotic translation initiation factor 3 subunit J EIF3J eukaryotic translation initiation factor 3, subunit J EIF3S1, eIF3-alpha, eIF3-p35, eIF3j Yes No Ensembl:ENSG00000104131, GeneCard:EIF3J, HGNC:HGNC:3270, HumanCyc Gene:HS02545, ModBase:O75822, NCBI Gene:8669, OMIM:603910, RefSeq DNA:NT_010194, RefSeq Protein:NP_003749, RefSeq RNA:NM_003758, UniProtKB:O75822 No chr15 44829266 44855001 44537068 44562803 +PA162384923 27335 HGNC:24656 ENSG00000178982 eukaryotic translation initiation factor 3 subunit K EIF3K eukaryotic translation initiation factor 3, subunit K ARG134, EIF3S12, HSPC029, M9, PLAC-24, PRO1474, PTD001, eIF3k Yes No Ensembl:ENSG00000178982, GeneCard:EIF3K, HGNC:HGNC:24656, HumanCyc Gene:HS11336, NCBI Gene:27335, OMIM:609596, RefSeq DNA:NT_011109, RefSeq Protein:NP_037366, RefSeq RNA:NM_013234, UniProtKB:Q9UBQ5 No chr19 39109722 39127595 38619072 38636959 +PA27706 51386 HGNC:18138 ENSG00000100129 eukaryotic translation initiation factor 3 subunit L EIF3L eukaryotic translation initiation factor 3, subunit L EIF3EIP, EIF3S11, EIF3S6IP, HSPC021, HSPC025 Yes No Ensembl:ENSG00000100129, GenAtlas:EIF3S6IP, GeneCard:EIF3L, GeneCard:EIF3S6IP, HGNC:HGNC:18138, HumanCyc Gene:HS01983, NCBI Gene:51386, RefSeq DNA:NT_011520, RefSeq Protein:NP_001229852, RefSeq Protein:NP_057175, RefSeq RNA:NM_001242923, RefSeq RNA:NM_016091, UCSC Genome Browser:NM_016091, UniProtKB:B3KPB9, UniProtKB:Q9Y262 No chr22 38245379 38284789 37848774 37888782 +PA134901165 319117 HGNC:20010 ENSG00000258501 eukaryotic translation initiation factor 3, subunit L pseudogene 1 EIF3LP1 Yes No Ensembl:ENSG00000258501, HGNC:HGNC:20010, NCBI Gene:319117, RefSeq DNA:NG_002498, RefSeq DNA:NT_026437 No chr14 82382544 82384402 81916200 81918058 +PA134956203 143341 HGNC:24657 ENSG00000233837 eukaryotic translation initiation factor 3, subunit L pseudogene 2 EIF3LP2 Yes No Ensembl:ENSG00000233837, HGNC:HGNC:24657, NCBI Gene:143341, RefSeq DNA:NG_001544, RefSeq DNA:NT_033985 No chr10 43062124 43063114 42566676 42567653 +PA162384944 10480 HGNC:24460 ENSG00000149100 eukaryotic translation initiation factor 3 subunit M EIF3M """eukaryotic translation initiation factor 3, subunit M"", ""transport and golgi organization 7 homolog (Drosophila)""" FLJ29030, GA17, PCID1, TANGO7, eIF3m, hfl-B5 Yes No Ensembl:ENSG00000149100, GeneCard:EIF3M, HGNC:HGNC:24460, HumanCyc Gene:HS14266, ModBase:Q7L2H7, NCBI Gene:10480, OMIM:609641, RefSeq DNA:NT_009237, RefSeq Protein:NP_006351, RefSeq RNA:NM_006360, UniProtKB:Q7L2H7 No chr11 32605313 32624037 32583767 32602873 +PA27710 1973 HGNC:3282 ENSG00000161960 eukaryotic translation initiation factor 4A1 EIF4A1 DDX2A, EIF-4A, EIF4A Yes No Comparative Toxicogenomics Database:1973, Ensembl:ENSG00000161960, GenAtlas:EIF4A1, GeneCard:EIF4A1, HGNC:HGNC:3282, HumanCyc Gene:HS08630, ModBase:P60842, NCBI Gene:1973, OMIM:602641, RefSeq DNA:NT_010718, RefSeq Protein:NP_001191439, RefSeq Protein:NP_001407, RefSeq RNA:NM_001204510, RefSeq RNA:NM_001416, UCSC Genome Browser:NM_001416, UniProtKB:P60842 No chr17 7476024 7482324 7572706 7579006 +PA27711 54052 HGNC:3283 ENSG00000233300 eukaryotic translation initiation factor 4A1 pseudogene 1 EIF4A1P1 Yes No Ensembl:ENSG00000233300, GenAtlas:EIF4A1P, GeneCard:EIF4A1P1, HGNC:HGNC:3283, NCBI Gene:54052, RefSeq DNA:NG_000924, RefSeq DNA:NT_011512 No chr21 28739331 28740298 27367012 27367979 +PA27712 1974 HGNC:3284 ENSG00000156976 eukaryotic translation initiation factor 4A2 EIF4A2 BM-010, DDX2B, EIF4A, EIF4F Yes No Comparative Toxicogenomics Database:1974, Ensembl:ENSG00000156976, GenAtlas:EIF4A2, GeneCard:EIF4A2, HGNC:HGNC:3284, HumanCyc Gene:HS08165, ModBase:Q14240, NCBI Gene:1974, OMIM:601102, RefSeq DNA:NT_005612, RefSeq Protein:NP_001958, RefSeq RNA:NM_001967, UCSC Genome Browser:NM_001967, UniProtKB:Q14240 No chr3 186501361 186507686 186783572 186789897 +PA162384945 9775 HGNC:18683 ENSG00000141543 eukaryotic translation initiation factor 4A3 EIF4A3 DDX48, EIF4AIII, Fal1, KIAA0111 Yes No Ensembl:ENSG00000141543, GeneCard:EIF4A3, HGNC:HGNC:18683, HumanCyc Gene:HS06847, ModBase:P38919, NCBI Gene:9775, OMIM:608546, RefSeq DNA:NT_010783, RefSeq Protein:NP_055555, RefSeq RNA:NM_014740, UniProtKB:P38919 No chr17 78109013 78120982 80135214 80147183 +PA27713 1975 HGNC:3285 ENSG00000063046 eukaryotic translation initiation factor 4B EIF4B Yes No Comparative Toxicogenomics Database:1975, Ensembl:ENSG00000063046, GenAtlas:EIF4B, GeneCard:EIF4B, HGNC:HGNC:3285, HumanCyc Gene:HS00773, ModBase:P23588, NCBI Gene:1975, OMIM:603928, RefSeq DNA:NT_029419, RefSeq DNA:NT_079596, RefSeq Protein:NP_001408, RefSeq RNA:NM_001417, UCSC Genome Browser:NM_001417, UniProtKB:P23588 No chr12 53399942 53435993 53006258 53042209 +PA134913315 319118 HGNC:19929 ENSG00000259019 eukaryotic translation initiation factor 4B pseudogene 1 EIF4BP1 Yes No Ensembl:ENSG00000259019, HGNC:HGNC:19929, NCBI Gene:319118, RefSeq DNA:NG_002499, RefSeq DNA:NT_026437 No chr14 44546739 44547082 44077336 44077882 +PA27714 1977 HGNC:3287 ENSG00000151247 eukaryotic translation initiation factor 4E EIF4E EIF4E1, EIF4EL1, EIF4F Yes No Comparative Toxicogenomics Database:1977, Ensembl:ENSG00000151247, GenAtlas:EIF4E, GeneCard:EIF4E, HGNC:HGNC:3287, ModBase:P06730, NCBI Gene:1977, OMIM:133440, RefSeq DNA:NT_016354, RefSeq Protein:NP_001124150, RefSeq Protein:NP_001124151, RefSeq Protein:NP_001959, RefSeq RNA:NM_001130678, RefSeq RNA:NM_001130679, RefSeq RNA:NM_001968, UCSC Genome Browser:NM_001968, UniProtKB:B7Z6V1, UniProtKB:D6RCQ6, UniProtKB:P06730, UniProtKB:Q32Q75 No chr4 99799607 99851786 98878456 98930635 +PA162384974 253314 HGNC:33179 ENSG00000175766 eukaryotic translation initiation factor 4E family member 1B EIF4E1B FLJ36951 Yes No Ensembl:ENSG00000175766, GeneCard:EIF4E1B, HGNC:HGNC:33179, ModBase:A6NMX2, NCBI Gene:253314, RefSeq DNA:NT_023133, RefSeq Protein:NP_001092878, RefSeq RNA:NM_001099408, UniProtKB:A6NMX2 No chr5 176057683 176073642 176630613 176646644 +PA27720 9470 HGNC:3293 ENSG00000135930 eukaryotic translation initiation factor 4E family member 2 EIF4E2 4EHP, EIF4EL3, IF4e Yes Yes Comparative Toxicogenomics Database:9470, Ensembl:ENSG00000135930, GenAtlas:EIF4E2, GeneCard:EIF4E2, HGNC:HGNC:3293, HumanCyc Gene:HS06089, ModBase:O60573, NCBI Gene:9470, OMIM:605895, RefSeq DNA:NT_005403, RefSeq Protein:NP_004837, RefSeq RNA:NM_004846, UCSC Genome Browser:NM_004846, UniProtKB:O60573, UniProtKB:Q53RG0 No chr2 233414762 233448354 232550587 232583645 +PA27721 128770 HGNC:16237 ENSG00000213384 eukaryotic translation initiation factor 4E family member 2 pseudogene 1 EIF4E2P1 dJ1049G11.3 Yes No Ensembl:ENSG00000213384, GenAtlas:EIF4E2P1, GeneCard:EIF4E2P1, HGNC:HGNC:16237, NCBI Gene:128770, RefSeq DNA:NG_005202, RefSeq DNA:NT_011387 No chr20 20640332 20640608 20659688 20659964 +PA134961880 317649 HGNC:31837 ENSG00000163412 eukaryotic translation initiation factor 4E family member 3 EIF4E3 MGC39820 Yes No Comparative Toxicogenomics Database:317649, Ensembl:ENSG00000163412, GeneCard:EIF4E3, HGNC:HGNC:31837, HumanCyc Gene:HS08846, NCBI Gene:317649, OMIM:609896, RefSeq DNA:NT_022459, RefSeq Protein:NP_001128121, RefSeq Protein:NP_001128122, RefSeq Protein:NP_001128123, RefSeq Protein:NP_775495, RefSeq RNA:NM_001134649, RefSeq RNA:NM_001134650, RefSeq RNA:NM_001134651, RefSeq RNA:NM_173359, UniProtKB:Q8N5X7 No chr3 71728440 71803924 71679289 71754831 +PA27715 1978 HGNC:3288 ENSG00000187840 eukaryotic translation initiation factor 4E binding protein 1 EIF4EBP1 phosphorylated heat- and acid-stable protein regulated by insulin 1 4E-BP1, PHAS-I Yes No Comparative Toxicogenomics Database:1978, Ensembl:ENSG00000187840, GenAtlas:EIF4EBP1, GeneCard:EIF4EBP1, HGNC:HGNC:3288, NCBI Gene:1978, OMIM:602223, RefSeq DNA:NT_167187, RefSeq Protein:NP_004086, RefSeq RNA:NM_004095, UCSC Genome Browser:NM_004095, UniProtKB:Q13541 No chr8 37888020 37917883 38030502 38060365 +PA134897736 326295 HGNC:20160 ENSG00000258870 eukaryotic translation initiation factor 4E binding protein 1 pseudogene 1 EIF4EBP1P1 Yes No Ensembl:ENSG00000258870, GeneCard:EIF4EBP1P1, HGNC:HGNC:20160, NCBI Gene:326295, RefSeq DNA:NG_002547, RefSeq DNA:NT_026437 No chr14 21887759 21888566 21419600 21420407 +PA27716 1979 HGNC:3289 ENSG00000148730 eukaryotic translation initiation factor 4E binding protein 2 EIF4EBP2 Yes No Comparative Toxicogenomics Database:1979, Ensembl:ENSG00000148730, GenAtlas:EIF4EBP2, GeneCard:EIF4EBP2, HGNC:HGNC:3289, HumanCyc Gene:HS07555, ModBase:Q13542, NCBI Gene:1979, OMIM:602224, RefSeq DNA:NT_030059, RefSeq Protein:NP_004087, RefSeq RNA:NM_004096, UCSC Genome Browser:NM_004096, UniProtKB:Q13542 No chr10 72163861 72188374 70404105 70428618 +PA27718 8637 HGNC:3290 ENSG00000243056 eukaryotic translation initiation factor 4E binding protein 3 EIF4EBP3 4E-BP3 Yes No Comparative Toxicogenomics Database:8637, Ensembl:ENSG00000243056, GenAtlas:EIF4EBP3, GeneCard:EIF4EBP3, HGNC:HGNC:3290, HumanCyc Gene:HS05540, NCBI Gene:8637, OMIM:603483, RefSeq DNA:NT_029289, RefSeq Protein:NP_003723, RefSeq RNA:NM_003732, UCSC Genome Browser:NM_003732, UniProtKB:O60516 No chr5 139927251 139929163 140547666 140549578 +PA38410 56478 HGNC:16687 ENSG00000184708 eukaryotic translation initiation factor 4E nuclear import factor 1 EIF4ENIF1 4E-transporter 2610509L04Rik, 4E-T, Clast4, FLJ21601 Yes No Comparative Toxicogenomics Database:56478, Ensembl:ENSG00000184708, GenAtlas:EIF4ENIF1, GeneCard:EIF4ENIF1, HGNC:HGNC:16687, NCBI Gene:56478, OMIM:607445, RefSeq DNA:NT_011520, RefSeq Protein:NP_001157973, RefSeq Protein:NP_001157974, RefSeq Protein:NP_062817, RefSeq RNA:NM_001164501, RefSeq RNA:NM_001164502, RefSeq RNA:NM_019843, UCSC Genome Browser:NM_019843, UniProtKB:B1AKL3, UniProtKB:Q9NRA8 No chr22 31835345 31885936 31436963 31489950 +PA27719 1980 HGNC:3292 ENSG00000233578 eukaryotic translation initiation factor 4E pseudogene 1 EIF4EP1 dJ1022P6.3 Yes No Ensembl:ENSG00000233578, GenAtlas:EIF4EP1, GeneCard:EIF4EP1, HGNC:HGNC:3292, NCBI Gene:1980, RefSeq DNA:NG_002658, RefSeq DNA:NT_011387 No chr20 5529498 5530291 5548852 5549645 +PA27722 1981 HGNC:3296 ENSG00000114867 eukaryotic translation initiation factor 4 gamma 1 EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 EIF4F, EIF4G, PARK18, p220 Yes No Comparative Toxicogenomics Database:1981, Ensembl:ENSG00000114867, GenAtlas:EIF4G1, GeneCard:EIF4G1, HGNC:HGNC:3296, HumanCyc Gene:HS03813, ModBase:Q04637, NCBI Gene:1981, OMIM:600495, RefSeq DNA:NG_016850, RefSeq DNA:NT_005612, RefSeq Protein:NP_001181875, RefSeq Protein:NP_001181876, RefSeq Protein:NP_004944, RefSeq Protein:NP_886553, RefSeq Protein:NP_937884, RefSeq Protein:NP_937885, RefSeq Protein:NP_937887, RefSeq RNA:NM_001194946, RefSeq RNA:NM_001194947, RefSeq RNA:NM_004953, RefSeq RNA:NM_182917, RefSeq RNA:NM_198241, RefSeq RNA:NM_198242, RefSeq RNA:NM_198244, UCSC Genome Browser:NM_004953, UniProtKB:Q04637 No chr3 184032283 184053146 184314495 184335358 +PA27723 1982 HGNC:3297 ENSG00000110321 eukaryotic translation initiation factor 4 gamma 2 EIF4G2 eukaryotic translation initiation factor 4 gamma, 2 DAP5, NAT1, p97 Yes No Comparative Toxicogenomics Database:1982, Ensembl:ENSG00000110321, GenAtlas:EIF4G2, GeneCard:EIF4G2, HGNC:HGNC:3297, HumanCyc Gene:HS03299, ModBase:P78344, NCBI Gene:1982, OMIM:602325, RefSeq DNA:NT_009237, RefSeq Protein:NP_001036024, RefSeq Protein:NP_001166176, RefSeq Protein:NP_001409, RefSeq RNA:NM_001042559, RefSeq RNA:NM_001172705, RefSeq RNA:NM_001418, UCSC Genome Browser:NM_001418, UniProtKB:P78344, UniProtKB:Q2TU89 No chr11 10818593 10830582 10797046 10809035 +PA27724 8672 HGNC:3298 ENSG00000075151 eukaryotic translation initiation factor 4 gamma 3 EIF4G3 eukaryotic translation initiation factor 4 gamma, 3 eIF4GII Yes No Comparative Toxicogenomics Database:8672, Ensembl:ENSG00000075151, GenAtlas:EIF4G3, GeneCard:EIF4G3, HGNC:HGNC:3298, HumanCyc Gene:HS01161, ModBase:O43432, NCBI Gene:8672, OMIM:603929, RefSeq DNA:NT_004610, RefSeq Protein:NP_001185730, RefSeq Protein:NP_001185731, RefSeq Protein:NP_001185732, RefSeq Protein:NP_003751, RefSeq RNA:NM_001198801, RefSeq RNA:NM_001198802, RefSeq RNA:NM_001198803, RefSeq RNA:NM_003760, UCSC Genome Browser:NM_003760, UniProtKB:O43432, UniProtKB:Q59GJ0 No chr1 21132785 21503381 20806292 21177320 +PA162384997 7458 HGNC:12741 ENSG00000106682 eukaryotic translation initiation factor 4H EIF4H KIAA0038, WBSCR1, WSCR1 Yes No Ensembl:ENSG00000106682, GeneCard:EIF4H, HGNC:HGNC:12741, HumanCyc Gene:HS02940, ModBase:Q15056, NCBI Gene:7458, OMIM:603431, RefSeq DNA:NG_008869, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_071496, RefSeq Protein:NP_114381, RefSeq RNA:NM_022170, RefSeq RNA:NM_031992, UniProtKB:Q15056 No chr7 73588706 73611429 74174376 74197101 +PA27725 1983 HGNC:3299 ENSG00000100664 eukaryotic translation initiation factor 5 EIF5 Yes No Comparative Toxicogenomics Database:1983, Ensembl:ENSG00000100664, GenAtlas:EIF5, GeneCard:EIF5, HGNC:HGNC:3299, HumanCyc Gene:HS02133, ModBase:P55010, NCBI Gene:1983, OMIM:601710, RefSeq DNA:NT_026437, RefSeq Protein:NP_001960, RefSeq Protein:NP_892116, RefSeq RNA:NM_001969, RefSeq RNA:NM_183004, UCSC Genome Browser:NM_001969, UniProtKB:P55010 No chr14 103800339 103811362 103334002 103345025 +PA27726 1984 HGNC:3300 ENSG00000132507 eukaryotic translation initiation factor 5A EIF5A EIF-5A, EIF5A1, MGC104255, MGC99547 Yes No Comparative Toxicogenomics Database:1984, Ensembl:ENSG00000132507, GenAtlas:EIF5A, GeneCard:EIF5A, HGNC:HGNC:3300, HumanCyc Gene:HS05646, ModBase:P63241, NCBI Gene:1984, OMIM:600187, RefSeq DNA:NT_010718, RefSeq Protein:NP_001137232, RefSeq Protein:NP_001137233, RefSeq Protein:NP_001137234, RefSeq Protein:NP_001961, RefSeq RNA:NM_001143760, RefSeq RNA:NM_001143761, RefSeq RNA:NM_001143762, RefSeq RNA:NM_001970, UCSC Genome Browser:NM_001970, UniProtKB:P63241 No chr17 7210318 7215782 7306999 7312463 +PA27727 56648 HGNC:3301 ENSG00000163577 eukaryotic translation initiation factor 5A2 EIF5A2 Yes No Comparative Toxicogenomics Database:56648, Ensembl:ENSG00000163577, GenAtlas:EIF5A2, GeneCard:EIF5A2, HGNC:HGNC:3301, HumanCyc Gene:HS08884, ModBase:Q9GZV4, NCBI Gene:56648, OMIM:605782, RefSeq DNA:NT_005612, RefSeq Protein:NP_065123, RefSeq RNA:NM_020390, UCSC Genome Browser:NM_020390, UniProtKB:Q9GZV4 No chr3 170606204 170626426 170888415 170908637 +PA134920977 143244 HGNC:17419 ENSG00000253626 eukaryotic translation initiation factor 5A like 1 EIF5AL1 eukaryotic translation initiation factor 5A-like 1 EIF5AP1, bA342M3.3 Yes No Ensembl:ENSG00000253626, GeneCard:EIF5AL1, HGNC:HGNC:17419, ModBase:Q6IS14, NCBI Gene:143244, RefSeq DNA:NG_000859, RefSeq DNA:NT_030059, RefSeq Protein:NP_001093162, RefSeq RNA:NM_001099692, UniProtKB:Q6IS14 No chr10 81272357 81276196 79512601 79516440 +PA27729 1986 HGNC:3303 ENSG00000267679 eukaryotic translation initiation factor 5A pseudogene 2 EIF5AP2 Yes No Ensembl:ENSG00000267679, GenAtlas:EIF5AP2, GeneCard:EIF5AP2, HGNC:HGNC:3303, NCBI Gene:1986, RefSeq DNA:NG_002746, RefSeq DNA:NT_010783 No chr17 76153440 76155216 78157359 78159135 +PA27730 1987 HGNC:3304 ENSG00000267346 eukaryotic translation initiation factor 5A pseudogene 3 EIF5AP3 Yes No Ensembl:ENSG00000267346, GenAtlas:EIF5AP3, GeneCard:EIF5AP3, HGNC:HGNC:3304, NCBI Gene:1987, RefSeq DNA:NG_002725, RefSeq DNA:NT_011109 No chr19 45631783 45632340 45128525 45129082 +PA134958918 642592 HGNC:31442 ENSG00000234743 eukaryotic translation initiation factor 5A pseudogene 4 EIF5AP4 Yes No Ensembl:ENSG00000234743, GeneCard:EIF5AP4, HGNC:HGNC:31442, NCBI Gene:642592, RefSeq DNA:NG_006529, RefSeq DNA:NT_030059 No chr10 82006775 82007553 80246821 80247797 +PA134864457 9669 HGNC:30793 ENSG00000158417 eukaryotic translation initiation factor 5B EIF5B translation initiation factor IF2 DKFZp434I036, FLJ10524, IF2, KIAA0741 Yes No Comparative Toxicogenomics Database:9669, Ensembl:ENSG00000158417, GeneCard:EIF5B, HGNC:HGNC:30793, HumanCyc Gene:HS08288, ModBase:O60841, NCBI Gene:9669, OMIM:606086, RefSeq DNA:NT_022171, RefSeq Protein:NP_056988, RefSeq RNA:NM_015904, UniProtKB:O60841, UniProtKB:Q8N5A0 No chr2 99953821 100016728 99337371 99400265 +PA29958 3692 HGNC:6159 ENSG00000242372 eukaryotic translation initiation factor 6 EIF6 EIF3A, ITGB4BP, b(2)gcn, p27BBP Yes No Comparative Toxicogenomics Database:3692, Ensembl:ENSG00000242372, GenAtlas:ITGB4BP, GeneCard:EIF6, GeneCard:ITGB4BP, HGNC:HGNC:6159, HumanCyc Gene:HS04988, NCBI Gene:3692, OMIM:602912, RefSeq DNA:NG_023238, RefSeq DNA:NT_011362, RefSeq DNA:NT_028392, RefSeq Protein:NP_002203, RefSeq Protein:NP_852131, RefSeq Protein:NP_852132, RefSeq Protein:NP_852133, RefSeq Protein:NP_852134, RefSeq RNA:NM_002212, RefSeq RNA:NM_181466, RefSeq RNA:NM_181467, RefSeq RNA:NM_181468, RefSeq RNA:NM_181469, UCSC Genome Browser:NM_002212, UniProtKB:B7ZBG9, UniProtKB:P56537 No chr20 33866709 33872619 35278906 35284816 +PA37051 7260 HGNC:12383 ENSG00000032389 EARP complex and GARP complex interacting protein 1 EIPR1 tumor suppressing subtransferable candidate 1 EIPR-1, TSSC1 Yes No Ensembl:ENSG00000032389, GenAtlas:TSSC1, GeneCard:TSSC1, HGNC:HGNC:12383, HumanCyc Gene:HS00484, ModBase:Q53HC9, NCBI Gene:7260, OMIM:608998, RefSeq DNA:NT_022221, RefSeq Protein:NP_003301, RefSeq RNA:NM_003310, UCSC Genome Browser:NM_003310, UniProtKB:Q53HC9 No chr2 3192741 3381653 3188968 3377882 +PA27738 55520 HGNC:14197 ENSG00000141642 elaC ribonuclease Z 1 ELAC1 RNaseZ(S), elaC homolog 1 (E. coli), tRNA Z (short form) D29 Yes No Ensembl:ENSG00000141642, GenAtlas:ELAC1, GeneCard:ELAC1, HGNC:HGNC:14197, HumanCyc Gene:HS13902, ModBase:Q9H777, NCBI Gene:55520, OMIM:608079, RefSeq DNA:NT_010966, RefSeq Protein:NP_061166, RefSeq RNA:NM_018696, UCSC Genome Browser:NM_018696, UniProtKB:Q9H777 No chr18 48494387 48514491 50968017 50988120 +PA27739 60528 HGNC:14198 ENSG00000006744 elaC ribonuclease Z 2 ELAC2 elaC homolog 2 (E. coli), tRNase Z (long form) FLJ10530, HPC2 Yes No Comparative Toxicogenomics Database:60528, Ensembl:ENSG00000006744, GenAtlas:ELAC2, GeneCard:ELAC2, HGNC:HGNC:14198, HumanCyc Gene:HS12017, ModBase:Q9BQ52, NCBI Gene:60528, OMIM:176807, OMIM:605367, RefSeq DNA:NG_015808, RefSeq DNA:NT_010718, RefSeq Protein:NP_001159434, RefSeq Protein:NP_060597, RefSeq Protein:NP_776065, RefSeq RNA:NM_001165962, RefSeq RNA:NM_018127, RefSeq RNA:NM_173717, UCSC Genome Browser:NM_018127, UniProtKB:Q9BQ52 No chr17 12894929 12921381 12991612 13018064 +PA27735 1991 HGNC:3309 ENSG00000197561 elastase, neutrophil expressed ELANE PMN Elastase, leukocyte elastase, medullasin, neutrophil elastase, polymorphonuclear leukocyte elastase ELA2, HLE, HNE, NE, PMN-E Yes No Comparative Toxicogenomics Database:1991, Ensembl:ENSG00000197561, GenAtlas:ELA2, GeneCard:ELA2, GeneCard:ELANE, HGNC:HGNC:3309, HumanCyc Gene:HS03921, ModBase:P08246, NCBI Gene:1991, OMIM:130130, OMIM:162800, OMIM:202700, RefSeq DNA:NG_007274, RefSeq DNA:NG_009627, RefSeq DNA:NT_011255, RefSeq Protein:NP_001963, RefSeq RNA:NM_001972, UCSC Genome Browser:NM_001972, UniProtKB:P08246 No chr19 850989 856246 850997 856250 +PA166352501 57535 HGNC:29618 endosome-lysosome associated apoptosis and autophagy regulator 1 ELAPOR1 KIAA1324, estrogen induced gene 121 EIG121, maba1 Yes No HGNC:HGNC:29618, NCBI Gene:57535 No 0 0 0 0 +PA142671608 222223 HGNC:21945 endosome-lysosome associated apoptosis and autophagy regulator family member 2 ELAPOR2 EIG121-like, KIAA1324 like, KIAA1324-like EIG121L, FLJ31340, KIAA1324L Yes No GeneCard:KIAA1324L, HGNC:HGNC:21945, HumanCyc Gene:HS15227, NCBI Gene:222223, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001136221, RefSeq Protein:NP_689961, RefSeq RNA:NM_001142749, RefSeq RNA:NM_152748, RefSeq RNA:NR_030672, UniProtKB:A8MWY0, UniProtKB:B4DJV3 No chr7 86506222 86689014 86876906 87059714 +PA27740 1994 HGNC:3312 ENSG00000066044 ELAV like RNA binding protein 1 ELAVL1 """ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"", ""HUR"", ""Hu antigen R"", ""Human antigen R"", ""embryonic lethal, abnormal vision, drosophila, homolog-like 1""" HuR, Hua, MelG Yes No Comparative Toxicogenomics Database:1994, Ensembl:ENSG00000066044, GenAtlas:ELAVL1, GeneCard:ELAVL1, HGNC:HGNC:3312, HumanCyc Gene:HS00864, ModBase:Q15717, NCBI Gene:1994, OMIM:603466, RefSeq DNA:NT_077812, RefSeq Protein:NP_001410, RefSeq RNA:NM_001419, UCSC Genome Browser:NM_001419, UniProtKB:Q15717 No chr19 8023457 8070529 7958573 8005645 +PA27741 1993 HGNC:3313 ENSG00000107105 ELAV like RNA binding protein 2 ELAVL2 """ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"", ""ELAV like neuron-specific RNA binding protein 2"", ""Hu antigen B""" HEL-N1, HuB Yes Yes Ensembl:ENSG00000107105, GenAtlas:ELAVL2, GeneCard:ELAVL2, HGNC:HGNC:3313, HumanCyc Gene:HS02970, ModBase:Q12926, NCBI Gene:1993, OMIM:601673, RefSeq DNA:NG_016425, RefSeq DNA:NT_008413, RefSeq Protein:NP_001164666, RefSeq Protein:NP_001164668, RefSeq Protein:NP_004423, RefSeq RNA:NM_001171195, RefSeq RNA:NM_001171197, RefSeq RNA:NM_004432, UCSC Genome Browser:NM_004432, UniProtKB:Q12926 No chr9 23690097 23826342 23690099 23850757 +PA27742 1995 HGNC:3314 ENSG00000196361 ELAV like RNA binding protein 3 ELAVL3 """ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"", ""ELAV like neuron-specific RNA binding protein 3"", ""ELAV-like protein 3"", ""Hu antigen C"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""paraneoplastic limbic encephalitis antigen 21""" DKFZp547J036, HUC, HUCL, MGC20653, PLE21 Yes No Ensembl:ENSG00000196361, GenAtlas:ELAVL3, GeneCard:ELAVL3, HGNC:HGNC:3314, ModBase:Q14576, NCBI Gene:1995, OMIM:603458, RefSeq DNA:NT_011295, RefSeq Protein:NP_001411, RefSeq Protein:NP_115657, RefSeq RNA:NM_001420, RefSeq RNA:NM_032281, UCSC Genome Browser:NM_001420, UniProtKB:Q14576 No chr19 11562143 11591806 11451328 11480994 +PA27743 1996 HGNC:3315 ENSG00000162374 ELAV like RNA binding protein 4 ELAVL4 """ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"", ""ELAV like neuron-specific RNA binding protein 4"", ""Hu antigen D""" HUD, PNEM Yes No Ensembl:ENSG00000162374, GenAtlas:ELAVL4, GeneCard:ELAVL4, HGNC:HGNC:3315, HumanCyc Gene:HS08664, ModBase:P26378, NCBI Gene:1996, OMIM:168360, RefSeq DNA:NT_032977, RefSeq Protein:NP_001138246, RefSeq Protein:NP_001138247, RefSeq Protein:NP_001138248, RefSeq Protein:NP_001138249, RefSeq Protein:NP_068771, RefSeq RNA:NM_001144774, RefSeq RNA:NM_001144775, RefSeq RNA:NM_001144776, RefSeq RNA:NM_001144777, RefSeq RNA:NM_021952, UCSC Genome Browser:NM_021952, UniProtKB:B7Z4G7, UniProtKB:P26378 No chr1 50513686 50669442 50048014 50203786 +PA27744 1997 HGNC:3316 ENSG00000120690 E74 like ETS transcription factor 1 ELF1 E74-like factor 1 (ets domain transcription factor) Yes No Comparative Toxicogenomics Database:1997, Ensembl:ENSG00000120690, GenAtlas:ELF1, GeneCard:ELF1, HGNC:HGNC:3316, HumanCyc Gene:HS04420, ModBase:P32519, NCBI Gene:1997, OMIM:189973, RefSeq DNA:NT_024524, RefSeq Protein:NP_001138825, RefSeq Protein:NP_758961, RefSeq RNA:NM_001145353, RefSeq RNA:NM_172373, UCSC Genome Browser:NM_172373, UniProtKB:B4E2I5, UniProtKB:P32519, UniProtKB:Q6MZZ4 No chr13 41506055 41635544 40931919 41061414 +PA27745 1998 HGNC:3317 ENSG00000109381 E74 like ETS transcription factor 2 ELF2 E74-like factor 2 (ets domain transcription factor) EU32, NERF, NERF-1A, NERF-1B, NERF-2 Yes No Comparative Toxicogenomics Database:1998, Ensembl:ENSG00000109381, GenAtlas:ELF2, GeneCard:ELF2, HGNC:HGNC:3317, HumanCyc Gene:HS03222, NCBI Gene:1998, RefSeq DNA:NT_016354, RefSeq Protein:NP_006865, RefSeq Protein:NP_973728, RefSeq RNA:NM_006874, RefSeq RNA:NM_201999, UCSC Genome Browser:NM_006874, UniProtKB:Q15723 No chr4 139978871 140098372 139057717 139177218 +PA27746 1999 HGNC:3318 ENSG00000163435 E74 like ETS transcription factor 3 ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) EPR-1, ERT, ESE-1, ESX Yes No Comparative Toxicogenomics Database:1999, Ensembl:ENSG00000163435, GenAtlas:ELF3, GeneCard:ELF3, HGNC:HGNC:3318, HumanCyc Gene:HS08850, ModBase:P78545, NCBI Gene:1999, OMIM:602191, RefSeq DNA:NT_004487, RefSeq Protein:NP_001107781, RefSeq Protein:NP_004424, RefSeq RNA:NM_001114309, RefSeq RNA:NM_004433, UCSC Genome Browser:NM_004433, UniProtKB:P78545 No chr1 201979647 201986316 202010519 202017188 +PA27747 2000 HGNC:3319 ENSG00000102034 E74 like ETS transcription factor 4 ELF4 E74-like factor 4 (ets domain transcription factor) ELFR, MEF Yes No Comparative Toxicogenomics Database:2000, Ensembl:ENSG00000102034, GenAtlas:ELF4, GeneCard:ELF4, HGNC:HGNC:3319, HumanCyc Gene:HS02338, ModBase:Q99607, NCBI Gene:2000, OMIM:300775, RefSeq DNA:NG_016388, RefSeq DNA:NT_011786, RefSeq Protein:NP_001120669, RefSeq Protein:NP_001412, RefSeq RNA:NM_001127197, RefSeq RNA:NM_001421, UCSC Genome Browser:NM_001421, UniProtKB:Q99607 No chrX 129198895 129244688 130064920 130110713 +PA27748 2001 HGNC:3320 ENSG00000135374 E74 like ETS transcription factor 5 ELF5 E74-like factor 5 (ets domain transcription factor) Yes No Comparative Toxicogenomics Database:2001, Ensembl:ENSG00000135374, GenAtlas:ELF5, GeneCard:ELF5, HGNC:HGNC:3320, HumanCyc Gene:HS05991, ModBase:Q9UKW6, NCBI Gene:2001, OMIM:605169, RefSeq DNA:NT_009237, RefSeq Protein:NP_001413, RefSeq Protein:NP_938195, RefSeq RNA:NM_001422, RefSeq RNA:NM_198381, UCSC Genome Browser:NM_001422, UniProtKB:A8K443, UniProtKB:Q9UKW6 No chr11 34500342 34535347 34478791 34513800 +PA162385031 392617 HGNC:33154 ENSG00000225968 extracellular leucine rich repeat and fibronectin type III domain containing 1 ELFN1 extracellular leucine-rich repeat and fibronectin type III domain containing 1 PPP1R28 Yes No Ensembl:ENSG00000225968, GeneCard:ELFN1, HGNC:HGNC:33154, ModBase:P0C7U0, NCBI Gene:392617, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001122108, RefSeq RNA:NM_001128636 No chr7 1748798 1787590 1666075 1747954 +PA162385040 114794 HGNC:29396 ENSG00000243902 extracellular leucine rich repeat and fibronectin type III domain containing 2 ELFN2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 KIAA1904, LRRC62, PPP1R29, dJ63G5.3 Yes No Ensembl:ENSG00000243902, GeneCard:ELFN2, HGNC:HGNC:29396, ModBase:Q5R3F8, NCBI Gene:114794, RefSeq DNA:NT_011520, RefSeq Protein:NP_443138, RefSeq RNA:NM_052906, UniProtKB:Q5R3F8 No chr22 37764000 37823505 37340644 37427470 +PA27749 2002 HGNC:3321 ENSG00000126767 ETS transcription factor ELK1 ELK1 """ELK1, ETS transcription factor"", ""ELK1, member of ETS oncogene family""" Yes No Comparative Toxicogenomics Database:2002, Ensembl:ENSG00000126767, GenAtlas:ELK1, GeneCard:ELK1, HGNC:HGNC:3321, HumanCyc Gene:HS05045, ModBase:P19419, NCBI Gene:2002, OMIM:311040, RefSeq DNA:NG_009222, RefSeq DNA:NT_079573, RefSeq Protein:NP_001107595, RefSeq Protein:NP_005220, RefSeq RNA:NM_001114123, RefSeq RNA:NM_005229, UCSC Genome Browser:NM_005229, UniProtKB:P19419 No chrX 47493744 47510003 47635520 47650604 +PA27750 2003 HGNC:3323 ENSG00000213140 ELK2A, member of ETS oncogene family, pseudogene ELK2AP ELK2.1 Yes No Ensembl:ENSG00000213140, GenAtlas:ELK2P1, GeneCard:ELK2AP, HGNC:HGNC:3323, NCBI Gene:2003, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106135914 106139144 105669577 105672807 +PA27751 9995 HGNC:3324 ENSG00000234402 ELK2B, member of ETS oncogene family, pseudogene ELK2BP ELK2.2 Yes No Ensembl:ENSG00000234402, GenAtlas:ELK2P2, GeneCard:ELK2BP, HGNC:HGNC:3324, NCBI Gene:9995, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106010329 106017197 105545423 105549834 +PA27752 2004 HGNC:3325 ENSG00000111145 ETS transcription factor ELK3 ELK3 """ELK3, ETS transcription factor"", ""ELK3, ETS-domain protein (SRF accessory protein 2)"", ""SRF accessory protein 2""" ERP, NET, SAP2 Yes No Comparative Toxicogenomics Database:2004, Ensembl:ENSG00000111145, GenAtlas:ELK3, GeneCard:ELK3, HGNC:HGNC:3325, HumanCyc Gene:HS03373, ModBase:P41970, NCBI Gene:2004, OMIM:600247, RefSeq DNA:NT_029419, RefSeq Protein:NP_005221, RefSeq RNA:NM_005230, UCSC Genome Browser:NM_005230, UniProtKB:P41970 No chr12 96588207 96661606 96194382 96269835 +PA27753 2005 HGNC:3326 ENSG00000158711 ETS transcription factor ELK4 ELK4 """ELK4, ETS transcription factor"", ""ELK4, ETS-domain protein (SRF accessory protein 1)"", ""SRF accessory protein 1""" SAP1 Yes No Comparative Toxicogenomics Database:2005, Ensembl:ENSG00000158711, GenAtlas:ELK4, GeneCard:ELK4, HGNC:HGNC:3326, HumanCyc Gene:HS08320, ModBase:P28324, NCBI Gene:2005, OMIM:600246, RefSeq DNA:NT_004487, RefSeq Protein:NP_001964, RefSeq Protein:NP_068567, RefSeq RNA:NM_001973, RefSeq RNA:NM_021795, UCSC Genome Browser:NM_001973, UniProtKB:P28324, UniProtKB:Q8IXL1 No chr1 205577071 205602971 205597774 205634077 +PA134939610 8178 HGNC:23114 ENSG00000105656 elongation factor for RNA polymerase II ELL """eleven-nineteen lysine-rich leukemia gene"", ""elongation factor RNA polymerase II"", ""protein phosphatase 1, regulatory subunit 68""" C19orf17, ELL1, Men, PPP1R68 Yes No Comparative Toxicogenomics Database:8178, Ensembl:ENSG00000105656, GeneCard:ELL, HGNC:HGNC:23114, HumanCyc Gene:HS02783, ModBase:P55199, NCBI Gene:8178, OMIM:600284, RefSeq DNA:NT_011295, RefSeq Protein:NP_006523, RefSeq RNA:NM_006532, UniProtKB:P55199 No chr19 18553473 18632937 18442663 18522129 +PA134935340 22936 HGNC:17064 ENSG00000118985 elongation factor for RNA polymerase II 2 ELL2 """elongation factor, RNA polymerase II, 2"", ""metastatic renal cell carcinoma-associated transcript 1""" MRCCAT1 Yes No Comparative Toxicogenomics Database:22936, Ensembl:ENSG00000118985, GeneCard:ELL2, HGNC:HGNC:17064, HumanCyc Gene:HS04267, ModBase:O00472, NCBI Gene:22936, OMIM:601874, RefSeq DNA:NT_034772, RefSeq Protein:NP_036213, RefSeq RNA:NM_012081, UniProtKB:O00472, UniProtKB:Q59FW6 No chr5 95220802 95297775 95885098 95962288 +PA128394728 80237 HGNC:23113 ENSG00000128886 elongation factor for RNA polymerase II 3 ELL3 elongation factor RNA polymerase II-like 3 FLJ22637 Yes No Ensembl:ENSG00000128886, GeneCard:ELL3, HGNC:HGNC:23113, HumanCyc Gene:HS13281, ModBase:Q9HB65, NCBI Gene:80237, OMIM:609885, RefSeq DNA:NT_010194, RefSeq Protein:NP_079441, RefSeq RNA:NM_025165, UCSC Genome Browser:NM_025165, UniProtKB:B3KX08, UniProtKB:Q9HB65 No chr15 44064798 44069502 43772600 43777304 +PA27754 9844 HGNC:16286 ENSG00000155849 engulfment and cell motility 1 ELMO1 CED-12, CED12, ELMO-1, KIAA0281 Yes No Comparative Toxicogenomics Database:9844, Ensembl:ENSG00000155849, GenAtlas:ELMO1, GeneCard:ELMO1, HGNC:HGNC:16286, HumanCyc Gene:HS14588, ModBase:Q92556, NCBI Gene:9844, OMIM:606420, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001034548, RefSeq Protein:NP_001193409, RefSeq Protein:NP_001193411, RefSeq Protein:NP_055615, RefSeq Protein:NP_569709, RefSeq RNA:NM_001039459, RefSeq RNA:NM_001206480, RefSeq RNA:NM_001206482, RefSeq RNA:NM_014800, RefSeq RNA:NM_130442, RefSeq RNA:NR_038120, RefSeq RNA:NR_038121, UCSC Genome Browser:NM_014800, UniProtKB:A4D1X5, UniProtKB:Q92556 No chr7 36892511 37488895 36852906 37449409 +PA27755 63916 HGNC:17233 ENSG00000062598 engulfment and cell motility 2 ELMO2 CED-12, CED12, ELMO-2, FLJ11656, KIAA1834 Yes No Comparative Toxicogenomics Database:63916, Ensembl:ENSG00000062598, GenAtlas:ELMO2, GeneCard:ELMO2, HGNC:HGNC:17233, HumanCyc Gene:HS12157, ModBase:Q9NQQ6, NCBI Gene:63916, OMIM:606421, RefSeq DNA:NT_011362, RefSeq Protein:NP_573403, RefSeq Protein:NP_877496, RefSeq RNA:NM_133171, RefSeq RNA:NM_182764, UCSC Genome Browser:NM_022086, UniProtKB:Q7Z5G9, UniProtKB:Q96JJ3 No chr20 44994689 45035690 46366045 46407051 +PA27756 79767 HGNC:17289 ENSG00000102890 engulfment and cell motility 3 ELMO3 CED-12, CED12, ELMO-3, FLJ13824 Yes No Comparative Toxicogenomics Database:79767, Ensembl:ENSG00000102890, GenAtlas:ELMO3, GeneCard:ELMO3, HGNC:HGNC:17289, HumanCyc Gene:HS12497, ModBase:Q96BJ8, NCBI Gene:79767, OMIM:606422, RefSeq DNA:NT_010498, RefSeq Protein:NP_078988, RefSeq RNA:NM_024712, UCSC Genome Browser:NM_024712, UniProtKB:Q96BJ8 No chr16 67233014 67237932 67199125 67204024 +PA134903991 55531 HGNC:25334 ENSG00000110675 ELMO domain containing 1 ELMOD1 ELMO/CED-12 domain containing 1 DKFZp547C176 Yes No Ensembl:ENSG00000110675, GeneCard:ELMOD1, HGNC:HGNC:25334, ModBase:Q8N336, NCBI Gene:55531, RefSeq DNA:NT_033899, RefSeq Protein:NP_001123509, RefSeq Protein:NP_061182, RefSeq RNA:NM_001130037, RefSeq RNA:NM_018712, UniProtKB:Q8N336 No chr11 107461817 107537505 107591091 107666779 +PA134984145 255520 HGNC:28111 ENSG00000179387 ELMO domain containing 2 ELMOD2 ELMO/CED-12 domain containing 2 MGC10084 Yes No Comparative Toxicogenomics Database:255520, Ensembl:ENSG00000179387, GeneCard:ELMOD2, HGNC:HGNC:28111, HumanCyc Gene:HS17273, ModBase:Q8IZ81, NCBI Gene:255520, OMIM:178500, OMIM:610196, RefSeq DNA:NT_016354, RefSeq Protein:NP_714913, RefSeq RNA:NM_153702, UniProtKB:Q8IZ81 No chr4 141445312 141474924 140524146 140553770 +PA164719009 84173 HGNC:26158 ENSG00000115459 ELMO domain containing 3 ELMOD3 ELMO/CED-12 domain containing 3 DFNB88, FLJ21977, RBED1, RBM29 Yes No Ensembl:ENSG00000115459, GeneCard:ELMOD3, HGNC:HGNC:26158, HumanCyc Gene:HS03891, NCBI Gene:84173, RefSeq DNA:NT_022184, RefSeq Protein:NP_001128493, RefSeq Protein:NP_001128494, RefSeq Protein:NP_001128495, RefSeq Protein:NP_115589, RefSeq RNA:NM_001135021, RefSeq RNA:NM_001135022, RefSeq RNA:NM_001135023, RefSeq RNA:NM_032213, UniProtKB:B9A004, UniProtKB:Q96FG2 No chr2 85581843 85618875 85354394 85391752 +PA27757 2006 HGNC:3327 ENSG00000049540 elastin ELN Williams-Beuren syndrome, supravalvular aortic stenosis, tropoelastin SVAS, WBS, WS Yes No Comparative Toxicogenomics Database:2006, Ensembl:ENSG00000049540, GenAtlas:ELN, GeneCard:ELN, HGNC:HGNC:3327, HumanCyc Gene:HS00623, NCBI Gene:2006, OMIM:123700, OMIM:130160, OMIM:185500, OMIM:194050, RefSeq DNA:NG_009261, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_000492, RefSeq Protein:NP_001075221, RefSeq Protein:NP_001075222, RefSeq Protein:NP_001075223, RefSeq Protein:NP_001075224, RefSeq RNA:NM_000501, RefSeq RNA:NM_001081752, RefSeq RNA:NM_001081753, RefSeq RNA:NM_001081754, RefSeq RNA:NM_001081755, UCSC Genome Browser:NM_000501, UniProtKB:B3KRT8, UniProtKB:B3KTS6, UniProtKB:P15502 No chr7 73442119 73484237 74027772 74069907 +PA36379 6924 HGNC:11620 ENSG00000011007 elongin A ELOA transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) ELOA1, SIII, TCEB3, TCEB3A Yes No Comparative Toxicogenomics Database:6924, Ensembl:ENSG00000011007, GenAtlas:TCEB3, GeneCard:TCEB3, HGNC:HGNC:11620, HumanCyc Gene:HS00296, ModBase:Q14241, NCBI Gene:6924, OMIM:600786, RefSeq DNA:NT_004610, RefSeq Protein:NP_003189, RefSeq RNA:NM_003198, UCSC Genome Browser:NM_003198, UniProtKB:Q14241 No chr1 24069856 24088549 23743366 23762059 +PA134932220 51224 HGNC:30771 ENSG00000206181 elongin A2 ELOA2 elongin A2, transcription elongation factor (SIII) elongin A2, transcription elongation factor B polypeptide 3B (elongin A2) HsT832, TCEB3B, TCEB3L Yes No Ensembl:ENSG00000206181, GeneCard:TCEB3B, HGNC:HGNC:30771, ModBase:Q8IYF1, NCBI Gene:51224, OMIM:609522, RefSeq DNA:NT_010966, RefSeq Protein:NP_057511, RefSeq RNA:NM_016427, UniProtKB:Q8IYF1 No chr18 44558943 44561988 47032572 47035617 +PA36378 6923 HGNC:11619 ENSG00000103363 elongin B ELOB transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) SIII, TCEB2 Yes No Comparative Toxicogenomics Database:6923, Ensembl:ENSG00000103363, GenAtlas:TCEB2, GeneCard:TCEB2, HGNC:HGNC:11619, HumanCyc Gene:HS02495, ModBase:Q15370, NCBI Gene:6923, OMIM:600787, RefSeq DNA:NT_010393, RefSeq Protein:NP_009039, RefSeq Protein:NP_996896, RefSeq RNA:NM_007108, RefSeq RNA:NM_207013, UCSC Genome Browser:NM_007108, UniProtKB:B7WPD3, UniProtKB:Q15370 No chr16 2821415 2827297 2771414 2777296 +PA36376 6921 HGNC:11617 ENSG00000154582 elongin C ELOC transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) SIII, TCEB1 Yes No Comparative Toxicogenomics Database:6921, Ensembl:ENSG00000154582, GenAtlas:TCEB1, GeneCard:TCEB1, HGNC:HGNC:11617, HumanCyc Gene:HS07989, ModBase:Q15369, NCBI Gene:6921, OMIM:600788, RefSeq DNA:NT_008183, RefSeq Protein:NP_001191786, RefSeq Protein:NP_001191787, RefSeq Protein:NP_001191788, RefSeq Protein:NP_001191789, RefSeq Protein:NP_001191790, RefSeq Protein:NP_001191791, RefSeq Protein:NP_001191792, RefSeq Protein:NP_001191793, RefSeq Protein:NP_005639, RefSeq RNA:NM_001204857, RefSeq RNA:NM_001204858, RefSeq RNA:NM_001204859, RefSeq RNA:NM_001204860, RefSeq RNA:NM_001204861, RefSeq RNA:NM_001204862, RefSeq RNA:NM_001204863, RefSeq RNA:NM_001204864, RefSeq RNA:NM_005648, UCSC Genome Browser:NM_005648, UniProtKB:Q15369 No chr8 74857373 74884522 73945138 73972287 +PA142671911 84337 HGNC:28691 ENSG00000130165 elongation factor 1 ELOF1 elongation factor 1 homolog, elongation factor 1 homolog (S. cerevisiae) ELF1, MGC4549 Yes No Comparative Toxicogenomics Database:84337, Ensembl:ENSG00000130165, GeneCard:ELOF1, HGNC:HGNC:28691, HumanCyc Gene:HS13320, ModBase:P60002, NCBI Gene:84337, RefSeq DNA:NT_011295, RefSeq Protein:NP_115753, RefSeq RNA:NM_032377, UniProtKB:P60002 No chr19 11663858 11670051 11553043 11559236 +PA27760 64834 HGNC:14418 ENSG00000066322 ELOVL fatty acid elongase 1 ELOVL1 Ssc1 Yes No Comparative Toxicogenomics Database:64834, Ensembl:ENSG00000066322, GenAtlas:ELOVL1, GeneCard:ELOVL1, HGNC:HGNC:14418, HumanCyc Gene:HS00873, ModBase:Q9BW60, NCBI Gene:64834, OMIM:611813, RefSeq DNA:NT_032977, RefSeq Protein:NP_073732, RefSeq RNA:NM_022821, UCSC Genome Browser:NM_022821, UniProtKB:Q9BW60 No chr1 43829068 43833745 43363397 43368074 +PA27761 54898 HGNC:14416 ENSG00000197977 ELOVL fatty acid elongase 2 ELOVL2 Ssc2 Yes No Comparative Toxicogenomics Database:54898, Ensembl:ENSG00000197977, GenAtlas:ELOVL2, GeneCard:ELOVL2, HGNC:HGNC:14416, NCBI Gene:54898, OMIM:611814, RefSeq DNA:NT_007592, RefSeq Protein:NP_060240, RefSeq RNA:NM_017770, UCSC Genome Browser:NM_017770, UniProtKB:Q9NXB9 No chr6 10980992 11044624 10980759 11044391 +PA27762 83401 HGNC:18047 ENSG00000119915 ELOVL fatty acid elongase 3 ELOVL3 CIG-30 Yes No Comparative Toxicogenomics Database:83401, Ensembl:ENSG00000119915, GenAtlas:ELOVL3, GeneCard:ELOVL3, HGNC:HGNC:18047, HumanCyc Gene:HS04346, ModBase:Q9HB03, NCBI Gene:83401, OMIM:611815, RefSeq DNA:NT_030059, RefSeq Protein:NP_689523, RefSeq RNA:NM_152310, UCSC Genome Browser:NM_152310, UniProtKB:Q9HB03 No chr10 103986143 103989346 102224767 102229589 +PA27763 6785 HGNC:14415 ENSG00000118402 ELOVL fatty acid elongase 4 ELOVL4 cancer/testis antigen 118 CT118, SCA34, STGD2, STGD3 Yes No Comparative Toxicogenomics Database:6785, Ensembl:ENSG00000118402, GenAtlas:ELOVL4, GeneCard:ELOVL4, HGNC:HGNC:14415, HumanCyc Gene:HS04216, NCBI Gene:6785, OMIM:600110, OMIM:605512, RefSeq DNA:NG_009108, RefSeq DNA:NT_007299, RefSeq Protein:NP_073563, RefSeq RNA:NM_022726, UCSC Genome Browser:NM_022726, UniProtKB:Q9GZR5 No chr6 80624529 80657315 79914812 79947598 +PA128394703 60481 HGNC:21308 ENSG00000012660 ELOVL fatty acid elongase 5 ELOVL5 HELO1, SCA38, dJ483K16.1 Yes No Comparative Toxicogenomics Database:60481, Ensembl:ENSG00000012660, GeneCard:ELOVL5, HGNC:HGNC:21308, HumanCyc Gene:HS00335, NCBI Gene:60481, OMIM:611805, RefSeq DNA:NT_007592, RefSeq Protein:NP_001229757, RefSeq Protein:NP_001229759, RefSeq Protein:NP_001229760, RefSeq Protein:NP_068586, RefSeq RNA:NM_001242828, RefSeq RNA:NM_001242830, RefSeq RNA:NM_001242831, RefSeq RNA:NM_021814, UCSC Genome Browser:NM_021814, UniProtKB:Q9NYP7 No chr6 53132196 53213977 53267398 53349179 +PA134939058 79071 HGNC:15829 ENSG00000170522 ELOVL fatty acid elongase 6 ELOVL6 FLJ23378, LCE, MGC5487 Yes No Comparative Toxicogenomics Database:79071, Ensembl:ENSG00000170522, GeneCard:ELOVL6, HGNC:HGNC:15829, HumanCyc Gene:HS10142, ModBase:Q9H5J4, NCBI Gene:79071, OMIM:611546, RefSeq DNA:NT_016354, RefSeq Protein:NP_001124193, RefSeq Protein:NP_076995, RefSeq RNA:NM_001130721, RefSeq RNA:NM_024090, UniProtKB:Q9H5J4 No chr4 110970187 111120355 110049073 110199199 +PA134934034 79993 HGNC:26292 ENSG00000164181 ELOVL fatty acid elongase 7 ELOVL7 FLJ23563 Yes No Ensembl:ENSG00000164181, GeneCard:ELOVL7, HGNC:HGNC:26292, NCBI Gene:79993, RefSeq DNA:NT_006713, RefSeq Protein:NP_001098028, RefSeq Protein:NP_079206, RefSeq RNA:NM_001104558, RefSeq RNA:NM_024930, UniProtKB:A1L3X0 No chr5 60047616 60140101 60751789 60844292 +PA29775 8518 HGNC:5959 ENSG00000070061 elongator acetyltransferase complex subunit 1 ELP1 """elongator acetyltransferase complex subunit 1"", ""elongator complex protein 1"", ""inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein""" DYS, ELP1, IKAP, IKBKAP, IKI3, TOT1 Yes No Comparative Toxicogenomics Database:8518, Ensembl:ENSG00000070061, GenAtlas:IKBKAP, GeneCard:IKBKAP, HGNC:HGNC:5959, HumanCyc Gene:HS00982, ModBase:O95163, NCBI Gene:8518, OMIM:223900, OMIM:603722, RefSeq DNA:NG_008788, RefSeq DNA:NT_008470, RefSeq Protein:NP_003631, RefSeq RNA:NM_003640, UCSC Genome Browser:NM_003640, UniProtKB:O95163, UniProtKB:Q8N516 No chr9 111629800 111696608 108867520 108934332 +PA162385051 55250 HGNC:18248 ENSG00000134759 elongator acetyltransferase complex subunit 2 ELP2 FLJ10879, STATIP1, StIP Yes No Ensembl:ENSG00000134759, GeneCard:ELP2, HGNC:HGNC:18248, HumanCyc Gene:HS13544, ModBase:Q6IA86, NCBI Gene:55250, RefSeq DNA:NT_010966, RefSeq Protein:NP_001229804, RefSeq Protein:NP_001229805, RefSeq Protein:NP_001229806, RefSeq Protein:NP_001229807, RefSeq Protein:NP_001229808, RefSeq Protein:NP_060725, RefSeq RNA:NM_001242875, RefSeq RNA:NM_001242876, RefSeq RNA:NM_001242877, RefSeq RNA:NM_001242878, RefSeq RNA:NM_001242879, RefSeq RNA:NM_018255, RefSeq RNA:NR_040110, UniProtKB:Q6IA86 No chr18 33709837 33754688 36129874 36177931 +PA134992603 55140 HGNC:20696 ENSG00000134014 elongator acetyltransferase complex subunit 3 ELP3 FLJ10422, KAT9 Yes No Comparative Toxicogenomics Database:55140, Ensembl:ENSG00000134014, GeneCard:ELP3, HGNC:HGNC:20696, HumanCyc Gene:HS05804, ModBase:Q9H9T3, NCBI Gene:55140, OMIM:612722, RefSeq DNA:NT_167187, RefSeq Protein:NP_060561, RefSeq RNA:NM_018091, UniProtKB:Q9H9T3 No chr8 27950584 28048670 28090231 28191153 +PA27764 26610 HGNC:1171 ENSG00000109911 elongator acetyltransferase complex subunit 4 ELP4 C11orf19, PAXNEB Yes No Comparative Toxicogenomics Database:26610, Ensembl:ENSG00000109911, GenAtlas:ELP4, GeneCard:ELP4, HGNC:HGNC:1171, HumanCyc Gene:HS12704, ModBase:Q96EB1, NCBI Gene:26610, OMIM:606985, RefSeq DNA:NT_009237, RefSeq Protein:NP_061913, RefSeq RNA:NM_019040, UCSC Genome Browser:NM_019040, UniProtKB:Q96EB1 No chr11 31531297 31806073 31509729 31784525 +PA143485405 23587 HGNC:30617 ENSG00000170291 elongator acetyltransferase complex subunit 5 ELP5 S-phase 2 protein, dermal papilla derived protein 6 C17orf81, DERP6 Yes Yes Comparative Toxicogenomics Database:23587, Ensembl:ENSG00000170291, GeneCard:C17orf81, HGNC:HGNC:30617, HumanCyc Gene:HS15868, ModBase:Q8TE02, NCBI Gene:23587, RefSeq DNA:NT_010718, RefSeq Protein:NP_056177, RefSeq Protein:NP_981958, RefSeq Protein:NP_981959, RefSeq Protein:NP_981960, RefSeq RNA:NM_015362, RefSeq RNA:NM_203413, RefSeq RNA:NM_203414, RefSeq RNA:NM_203415, UniProtKB:A8K1M5, UniProtKB:Q8TE02 No chr17 7155372 7163259 7252053 7259940 +PA164717260 54859 HGNC:25976 ENSG00000163832 elongator acetyltransferase complex subunit 6 ELP6 C3orf75, FLJ20211, TMEM103 Yes No Ensembl:ENSG00000163832, GeneCard:C3orf75, HGNC:HGNC:25976, HumanCyc Gene:HS15114, ModBase:Q0PNE2, NCBI Gene:54859, RefSeq DNA:NT_022517, RefSeq Protein:NP_001026873, RefSeq RNA:NM_001031703, UniProtKB:Q0PNE2 No chr3 47537130 47555199 47495640 47513711 +PA27765 64100 HGNC:14417 ENSG00000169393 epididymal sperm binding protein 1 ELSPBP1 epididymal protein 12 E12, EDDM12, HE12 Yes No Ensembl:ENSG00000169393, GenAtlas:ELSPBP1, GeneCard:ELSPBP1, HGNC:HGNC:14417, HumanCyc Gene:HS15772, ModBase:Q96BH3, NCBI Gene:64100, OMIM:607443, RefSeq DNA:NT_011109, RefSeq Protein:NP_071425, RefSeq RNA:NM_022142, UCSC Genome Browser:NM_022142, UniProtKB:Q96BH3 No chr19 48497908 48528410 47994651 48025153 +PA134917460 133418 HGNC:30465 ENSG00000170571 embigin EMB MGC71745 Yes No Comparative Toxicogenomics Database:133418, Ensembl:ENSG00000170571, GeneCard:EMB, HGNC:HGNC:30465, ModBase:Q6PCB8, NCBI Gene:133418, RefSeq DNA:NT_006713, RefSeq Protein:NP_940851, RefSeq RNA:NM_198449, UniProtKB:Q6PCB8 No chr5 49692026 49737234 50396192 50443299 +PA142671634 23065 HGNC:28957 ENSG00000127463 ER membrane protein complex subunit 1 EMC1 KIAA0090 Yes No Comparative Toxicogenomics Database:23065, Ensembl:ENSG00000127463, GeneCard:KIAA0090, HGNC:HGNC:28957, HumanCyc Gene:HS13241, ModBase:Q8N766, NCBI Gene:23065, RefSeq DNA:NT_004610, RefSeq Protein:NP_055862, RefSeq RNA:NM_015047, UniProtKB:Q8N766 No chr1 19542158 19578053 19215664 19251559 +PA162378790 284361 HGNC:27609 ENSG00000161671 ER membrane protein complex subunit 10 EMC10 hematopoietic signal peptide-containing membrane domain-containing 1, hematopoietic signal peptide-containing secreted 1 C19orf63, HSM1, HSS1, INM02 Yes No Ensembl:ENSG00000161671, GeneCard:C19orf63, HGNC:HGNC:27609, ModBase:Q5UCC4, NCBI Gene:284361, RefSeq DNA:NT_011109, RefSeq Protein:NP_778233, RefSeq Protein:NP_996261, RefSeq RNA:NM_175063, RefSeq RNA:NM_206538, UniProtKB:Q5UCC4 No chr19 50979736 50986608 50476477 50505905 +PA162407224 9694 HGNC:28963 ENSG00000104412 ER membrane protein complex subunit 2 EMC2 KIAA0103, TTC35 Yes No Ensembl:ENSG00000104412, GeneCard:TTC35, HGNC:HGNC:28963, HumanCyc Gene:HS12550, ModBase:Q15006, NCBI Gene:9694, OMIM:607722, RefSeq DNA:NT_008046, RefSeq Protein:NP_055488, RefSeq RNA:NM_014673, UniProtKB:Q15006 No chr8 109455853 109499136 108443624 108486907 +PA142670762 55831 HGNC:23999 ENSG00000125037 ER membrane protein complex subunit 3 EMC3 TMEM111 Yes No Comparative Toxicogenomics Database:55831, Ensembl:ENSG00000125037, GeneCard:TMEM111, HGNC:HGNC:23999, HumanCyc Gene:HS13152, ModBase:Q9P0I2, NCBI Gene:55831, RefSeq DNA:NT_022517, RefSeq Protein:NP_060917, RefSeq RNA:NM_018447, UniProtKB:Q9P0I2 No chr3 10005636 10029146 9962680 10011248 +PA143485634 51234 HGNC:28032 ENSG00000128463 ER membrane protein complex subunit 4 EMC4 FLJ90746, MGC24415, PIG17, TMEM85 Yes No Ensembl:ENSG00000128463, GeneCard:TMEM85, HGNC:HGNC:28032, HumanCyc Gene:HS13260, ModBase:Q5J8M3, NCBI Gene:51234, RefSeq DNA:NT_010194, RefSeq Protein:NP_057538, RefSeq RNA:NM_016454, UniProtKB:Q5J8M3 No chr15 34517214 34522357 34224997 34230165 +PA142670745 83460 HGNC:28430 ENSG00000127774 ER membrane protein complex subunit 6 EMC6 MGC2963, RAB5IFL, TMEM93 Yes No Comparative Toxicogenomics Database:83460, Ensembl:ENSG00000127774, GeneCard:TMEM93, HGNC:HGNC:28430, HumanCyc Gene:HS13245, NCBI Gene:83460, RefSeq DNA:NT_010718, RefSeq Protein:NP_001014764, RefSeq Protein:NP_112588, RefSeq RNA:NM_001014764, RefSeq RNA:NM_031298, UniProtKB:Q9BV81 No chr17 3572090 3572962 3668723 3669669 +PA134900493 56851 HGNC:24301 ENSG00000134153 ER membrane protein complex subunit 7 EMC7 C11orf3, C15orf24 Yes No Ensembl:ENSG00000134153, GeneCard:C15orf24, HGNC:HGNC:24301, HumanCyc Gene:HS05824, ModBase:Q9NPA0, NCBI Gene:56851, RefSeq DNA:NT_010194, RefSeq Protein:NP_064539, RefSeq RNA:NM_020154, UniProtKB:Q9NPA0 No chr15 34376223 34394053 34084022 34101852 +PA31668 10328 HGNC:7864 ENSG00000131148 ER membrane protein complex subunit 8 EMC8 family with sequence similarity 158, member B C16orf2, C16orf4, COX4NB, FAM158B, NOC4 Yes No Comparative Toxicogenomics Database:10328, Ensembl:ENSG00000131148, GenAtlas:COX4NB, GeneCard:COX4NB, HGNC:HGNC:7864, HumanCyc Gene:HS05495, NCBI Gene:10328, OMIM:604886, RefSeq DNA:NT_010498, RefSeq Protein:NP_001135760, RefSeq Protein:NP_006058, RefSeq RNA:NM_001142288, RefSeq RNA:NM_006067, UCSC Genome Browser:NM_006067, UniProtKB:C9JB21, UniProtKB:O43402, UniProtKB:Q53Y03 No chr16 85812230 85833161 85778624 85799744 +PA162386700 51016 HGNC:20273 ENSG00000100908 ER membrane protein complex subunit 9 EMC9 C14orf122, CGI-112, FAM158A Yes No Ensembl:ENSG00000100908, GeneCard:FAM158A, HGNC:HGNC:20273, HumanCyc Gene:HS02163, ModBase:Q9Y3B6, NCBI Gene:51016, RefSeq DNA:NT_026437, RefSeq Protein:NP_057133, RefSeq RNA:NM_016049, UniProtKB:Q9Y3B6 No chr14 24608081 24610837 24138963 24142446 +PA144596436 51705 HGNC:16041 ENSG00000164035 endomucin EMCN mucin 14 MUC14 Yes No Comparative Toxicogenomics Database:51705, Ensembl:ENSG00000164035, GeneCard:EMCN, HGNC:HGNC:16041, HumanCyc Gene:HS15140, ModBase:Q9ULC0, NCBI Gene:51705, OMIM:608350, RefSeq DNA:NT_016354, RefSeq Protein:NP_001153166, RefSeq Protein:NP_057326, RefSeq RNA:NM_001159694, RefSeq RNA:NM_016242, UniProtKB:B4E347, UniProtKB:Q4W5J1, UniProtKB:Q9ULC0 No chr4 101316498 101439250 100395341 100518093 +PA27766 2010 HGNC:3331 ENSG00000102119 emerin EMD LEM domain containing 5 LEMD5, STA Yes No Comparative Toxicogenomics Database:2010, Ensembl:ENSG00000102119, GenAtlas:EMD, GeneCard:EMD, HGNC:HGNC:3331, HumanCyc Gene:HS02356, ModBase:P50402, NCBI Gene:2010, OMIM:300384, OMIM:310300, RefSeq DNA:NG_008677, RefSeq DNA:NT_167198, RefSeq Protein:NP_000108, RefSeq RNA:NM_000117, UCSC Genome Browser:NM_000117, UniProtKB:P50402, UniProtKB:Q6FI02 No chrX 153607597 153609883 154379237 154381523 +PA134904115 146956 HGNC:24965 ENSG00000154920 essential meiotic structure-specific endonuclease 1 EME1 SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae), essential meiotic endonuclease 1 homolog 1 (S. pombe) FLJ31364, MMS4L, SLX2A Yes No Comparative Toxicogenomics Database:146956, Ensembl:ENSG00000154920, GeneCard:EME1, HGNC:HGNC:24965, HumanCyc Gene:HS08017, NCBI Gene:146956, OMIM:610885, RefSeq DNA:NT_010783, RefSeq Protein:NP_001159603, RefSeq Protein:NP_689676, RefSeq RNA:NM_001166131, RefSeq RNA:NM_152463, UniProtKB:Q96AY2 No chr17 48450581 48458820 50373220 50381479 +PA134863517 197342 HGNC:27289 ENSG00000197774 essential meiotic structure-specific endonuclease subunit 2 EME2 SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae), essential meiotic endonuclease 1 homolog 2 (S. pombe) FLJ00151, SLX2B Yes No Ensembl:ENSG00000197774, GeneCard:EME2, HGNC:HGNC:27289, NCBI Gene:197342, OMIM:610886, RefSeq DNA:NT_010393, RefSeq Protein:NP_001010865, RefSeq RNA:NM_001010865, UniProtKB:A4GXA9 No chr16 1823223 1826628 1773222 1776714 +PA142671909 10436 HGNC:16912 ENSG00000126749 EMG1 N1-specific pseudouridine methyltransferase EMG1 """EMG1 N1-specific pseudouridine methyltransferase"", ""EMG1 nucleolar protein homolog (S. cerevisiae)"", ""EMG1, N1-specific pseudouridine methyltransferase""" C2F, Grcc2f, NEP1 Yes No Comparative Toxicogenomics Database:10436, Ensembl:ENSG00000126749, GeneCard:EMG1, HGNC:HGNC:16912, HumanCyc Gene:HS13214, NCBI Gene:10436, OMIM:211180, OMIM:611531, RefSeq DNA:NG_021408, RefSeq DNA:NT_009759, RefSeq Protein:NP_006322, RefSeq RNA:NM_006331, UniProtKB:Q92979 No chr12 7079944 7085165 6970781 6997428 +PA134921314 129080 HGNC:18036 ENSG00000186998 EMI domain containing 1 EMID1 emilin and multimerin-domain containing protein 1, putative emu1 EMI5, EMU1, hEmu1 Yes No Ensembl:ENSG00000186998, GeneCard:EMID1, HGNC:HGNC:18036, HumanCyc Gene:HS15514, ModBase:Q96A84, NCBI Gene:129080, OMIM:608926, RefSeq DNA:NT_011520, RefSeq Protein:NP_597712, RefSeq RNA:NM_133455, UniProtKB:Q96A84 No chr22 29601901 29655586 29205912 29259597 +PA134922135 11117 HGNC:19880 ENSG00000138080 elastin microfibril interfacer 1 EMILIN1 DKFZp586M121, EMILIN, gp115 Yes No Ensembl:ENSG00000138080, GeneCard:EMILIN1, HGNC:HGNC:19880, HumanCyc Gene:HS06451, ModBase:Q9Y6C2, NCBI Gene:11117, OMIM:130660, RefSeq DNA:NT_022184, RefSeq Protein:NP_008977, RefSeq RNA:NM_007046, UniProtKB:Q9Y6C2 No chr2 27301435 27309271 27078567 27086403 +PA134880588 84034 HGNC:19881 ENSG00000132205 elastin microfibril interfacer 2 EMILIN2 FLJ33200, FOAP-10 Yes No Ensembl:ENSG00000132205, GeneCard:EMILIN2, HGNC:HGNC:19881, HumanCyc Gene:HS05607, ModBase:Q9BXX0, NCBI Gene:84034, OMIM:608928, RefSeq DNA:NT_010859, RefSeq Protein:NP_114437, RefSeq RNA:NM_032048, UniProtKB:Q9BXX0 No chr18 2846786 2914090 2847030 2914092 +PA164741521 90187 HGNC:16123 ENSG00000183798 elastin microfibril interfacer 3 EMILIN3 chromosome 20 open reading frame 130 C20orf130, EMILIN5, dJ620E11.4 Yes No Ensembl:ENSG00000183798, GeneCard:EMILIN3, HGNC:HGNC:16123, ModBase:Q9NT22, NCBI Gene:90187, OMIM:608929, RefSeq DNA:NT_011362, RefSeq Protein:NP_443078, RefSeq RNA:NM_052846, UniProtKB:Q9NT22 No chr20 39988606 39995498 41359966 41366858 +PA27767 2009 HGNC:3330 ENSG00000066629 EMAP like 1 EML1 echinoderm microtubule associated protein like 1 ELP79, EMAP, EMAPL, HuEMAP Yes No Comparative Toxicogenomics Database:2009, Ensembl:ENSG00000066629, GenAtlas:EML1, GeneCard:EML1, HGNC:HGNC:3330, HumanCyc Gene:HS00884, NCBI Gene:2009, OMIM:602033, RefSeq DNA:NT_026437, RefSeq Protein:NP_001008707, RefSeq Protein:NP_004425, RefSeq RNA:NM_001008707, RefSeq RNA:NM_004434, UCSC Genome Browser:NM_004434, UniProtKB:O00423 No chr14 100204056 100408397 99737699 99942060 +PA27768 24139 HGNC:18035 ENSG00000125746 EMAP like 2 EML2 echinoderm MT-associated protein (EMAP)-like protein 70, echinoderm microtubule associated protein like 2, microtubule-associated protein like echinoderm EMAP ELP70, EMAP-2, EMAP2 Yes No Comparative Toxicogenomics Database:24139, Ensembl:ENSG00000125746, GenAtlas:EML2, GeneCard:EML2, HGNC:HGNC:18035, HumanCyc Gene:HS04926, ModBase:O95834, NCBI Gene:24139, RefSeq DNA:NT_011109, RefSeq Protein:NP_001180197, RefSeq Protein:NP_001180198, RefSeq Protein:NP_036287, RefSeq RNA:NM_001193268, RefSeq RNA:NM_001193269, RefSeq RNA:NM_012155, RefSeq RNA:NR_034098, UCSC Genome Browser:NM_012155, UniProtKB:O95834 No chr19 46112658 46148775 45609396 45645601 +PA142671910 256364 HGNC:26666 ENSG00000149499 EMAP like 3 EML3 echinoderm microtubule associated protein like 3 ELP95, FLJ35827 Yes No Comparative Toxicogenomics Database:256364, Ensembl:ENSG00000149499, GeneCard:EML3, HGNC:HGNC:26666, HumanCyc Gene:HS14284, ModBase:Q32P44, NCBI Gene:256364, RefSeq DNA:NT_167190, RefSeq Protein:NP_694997, RefSeq RNA:NM_153265, UniProtKB:Q32P44 No chr11 62369690 62380492 62602218 62613020 +PA27769 27436 HGNC:1316 ENSG00000143924 EMAP like 4 EML4 echinoderm microtubule associated protein like 4 C2orf2, ELP120, ROPP120 Yes No Comparative Toxicogenomics Database:27436, Ensembl:ENSG00000143924, GenAtlas:EML4, GeneCard:EML4, HGNC:HGNC:1316, HumanCyc Gene:HS07127, ModBase:Q9HC35, NCBI Gene:27436, OMIM:607442, RefSeq DNA:NT_022184, RefSeq Protein:NP_001138548, RefSeq Protein:NP_061936, RefSeq RNA:NM_001145076, RefSeq RNA:NM_019063, UCSC Genome Browser:NM_019063, UniProtKB:A6H8Y6, UniProtKB:Q9HC35 No chr2 42396490 42559688 42169338 42332548 +PA134894613 161436 HGNC:18197 ENSG00000165521 EMAP like 5 EML5 echinoderm microtubule associated protein like 5 EMAP-2, FAP16, HuEMAP-2 Yes No Ensembl:ENSG00000165521, GeneCard:EML5, HGNC:HGNC:18197, NCBI Gene:161436, RefSeq DNA:NT_026437, RefSeq Protein:NP_899243, RefSeq RNA:NM_183387, UniProtKB:A6NIN2, UniProtKB:B9EK59, UniProtKB:Q05BV3 No chr14 89079241 89259096 88614213 88792752 +PA164719036 400954 HGNC:35412 ENSG00000214595 EMAP like 6 EML6 echinoderm microtubule associated protein like 6 FLJ42562 Yes No Ensembl:ENSG00000214595, GeneCard:EML6, HGNC:HGNC:35412, NCBI Gene:400954, RefSeq DNA:NT_022184, RefSeq Protein:NP_001034842, RefSeq RNA:NM_001039753, UniProtKB:Q6ZMW3 No chr2 54952149 55199157 54723467 54972908 +PA27770 2012 HGNC:3333 ENSG00000134531 epithelial membrane protein 1 EMP1 CL-20, TMP Yes No Comparative Toxicogenomics Database:2012, Ensembl:ENSG00000134531, GenAtlas:EMP1, GeneCard:EMP1, HGNC:HGNC:3333, HumanCyc Gene:HS05879, ModBase:P54849, NCBI Gene:2012, OMIM:602333, RefSeq DNA:NT_009714, RefSeq Protein:NP_001414, RefSeq RNA:NM_001423, UCSC Genome Browser:NM_001423, UniProtKB:P54849 No chr12 13349602 13369708 13196668 13216774 +PA27771 2013 HGNC:3334 ENSG00000213853 epithelial membrane protein 2 EMP2 XMP Yes No Comparative Toxicogenomics Database:2013, Ensembl:ENSG00000213853, GenAtlas:EMP2, GeneCard:EMP2, HGNC:HGNC:3334, HumanCyc Gene:HS00984, ModBase:P54851, NCBI Gene:2013, OMIM:602334, RefSeq DNA:NT_010393, RefSeq Protein:NP_001415, RefSeq RNA:NM_001424, UCSC Genome Browser:NM_001424, UniProtKB:P54851 No chr16 10622279 10674539 10528422 10580716 +PA27772 2014 HGNC:3335 ENSG00000142227 epithelial membrane protein 3 (MAM blood group) EMP3 epithelial membrane protein 3 YMP Yes No Comparative Toxicogenomics Database:2014, Ensembl:ENSG00000142227, GenAtlas:EMP3, GeneCard:EMP3, HGNC:HGNC:3335, HumanCyc Gene:HS06910, NCBI Gene:2014, OMIM:602335, RefSeq DNA:NT_011109, RefSeq Protein:NP_001416, RefSeq RNA:NM_001425, UCSC Genome Browser:NM_001425, UniProtKB:P54852 No chr19 48828629 48833810 48325372 48330555 +PA134904392 56946 HGNC:18071 ENSG00000158636 EMSY transcriptional repressor, BRCA2 interacting EMSY """EMSY, BRCA2 interacting transcriptional repressor"", ""chromosome 11 open reading frame 30""" C11orf30, EMSY Yes Yes Ensembl:ENSG00000158636, GeneCard:C11orf30, HGNC:HGNC:18071, HumanCyc Gene:HS14728, ModBase:Q7Z589, NCBI Gene:56946, OMIM:608574, RefSeq DNA:NT_167190, RefSeq Protein:NP_064578, RefSeq RNA:NM_020193, UniProtKB:Q7Z589 No chr11 76155967 76263943 76444928 76552901 +PA27777 2016 HGNC:3340 ENSG00000135638 empty spiracles homeobox 1 EMX1 Homeobox protein EMX1 Yes No Ensembl:ENSG00000135638, GenAtlas:EMX1, GeneCard:EMX1, HGNC:HGNC:3340, HumanCyc Gene:HS06043, ModBase:Q04741, NCBI Gene:2016, OMIM:600034, RefSeq DNA:NT_022184, RefSeq Protein:NP_004088, RefSeq RNA:NM_004097, UniProtKB:Q04741 No chr2 73144604 73162020 72911147 72936691 +PA27778 2018 HGNC:3341 ENSG00000170370 empty spiracles homeobox 2 EMX2 Yes No Comparative Toxicogenomics Database:2018, Ensembl:ENSG00000170370, GenAtlas:EMX2, GeneCard:EMX2, HGNC:HGNC:3341, HumanCyc Gene:HS10115, ModBase:Q04743, NCBI Gene:2018, OMIM:269160, OMIM:600035, RefSeq DNA:NG_013009, RefSeq DNA:NT_030059, RefSeq Protein:NP_001159396, RefSeq Protein:NP_004089, RefSeq RNA:NM_001165924, RefSeq RNA:NM_004098, UCSC Genome Browser:NM_004098, UniProtKB:Q04743 No chr10 119301956 119309057 117542445 117549546 +PA134959888 196047 HGNC:18511 ENSG00000229847 EMX2 opposite strand/antisense RNA EMX2OS non-protein coding RNA 45 EMX2-AS1, NCRNA00045 Yes No Ensembl:ENSG00000229847, GeneCard:EMX2OS, HGNC:HGNC:18511, NCBI Gene:196047, OMIM:607637, RefSeq DNA:NT_030059, RefSeq RNA:NR_002791 No chr10 119243804 119304579 117484293 117545068 +PA27779 2019 HGNC:3342 ENSG00000163064 engrailed homeobox 1 EN1 Yes No Comparative Toxicogenomics Database:2019, Ensembl:ENSG00000163064, GenAtlas:EN1, GeneCard:EN1, HGNC:HGNC:3342, HumanCyc Gene:HS08781, ModBase:Q05925, NCBI Gene:2019, OMIM:131290, RefSeq DNA:NG_007123, RefSeq DNA:NT_022135, RefSeq Protein:NP_001417, RefSeq RNA:NM_001426, UCSC Genome Browser:NM_001426, UniProtKB:Q05925 No chr2 119599747 119605759 118842171 118848183 +PA27780 2020 HGNC:3343 ENSG00000164778 engrailed homeobox 2 EN2 AUTS1 Yes No Comparative Toxicogenomics Database:2020, Ensembl:ENSG00000164778, GenAtlas:EN2, GeneCard:EN2, HGNC:HGNC:3343, HumanCyc Gene:HS09137, ModBase:P19622, NCBI Gene:2020, OMIM:131310, OMIM:611016, RefSeq DNA:NG_007124, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_001418, RefSeq RNA:NM_001427, UCSC Genome Browser:NM_001427, UniProtKB:P19622 No chr7 155250824 155257526 155458129 155464831 +PA38517 55740 HGNC:18271 ENSG00000154380 ENAH actin regulator ENAH """ENAH, actin regulator"", ""enabled homolog (Drosophila)"", ""mammalian enabled""" FLJ10773, MENA, NDPP1 Yes No Comparative Toxicogenomics Database:55740, Ensembl:ENSG00000154380, GenAtlas:ENAH, GeneCard:ENAH, HGNC:HGNC:18271, HumanCyc Gene:HS14520, ModBase:Q8N8S7, NCBI Gene:55740, OMIM:609061, RefSeq DNA:NT_167186, RefSeq Protein:NP_001008493, RefSeq Protein:NP_060682, RefSeq RNA:NM_001008493, RefSeq RNA:NM_018212, UCSC Genome Browser:NM_018212, UniProtKB:Q8N8S7 No chr1 225674534 225840845 225486832 225660045 +PA27781 10117 HGNC:3344 ENSG00000132464 enamelin ENAM AIH2 Yes No Comparative Toxicogenomics Database:10117, Ensembl:ENSG00000132464, GenAtlas:ENAM, GeneCard:ENAM, HGNC:HGNC:3344, HumanCyc Gene:HS05638, NCBI Gene:10117, OMIM:104500, OMIM:204650, OMIM:606585, RefSeq DNA:NG_013024, RefSeq DNA:NT_022778, RefSeq Protein:NP_114095, RefSeq RNA:NM_031889, UCSC Genome Browser:NM_031889, UniProtKB:Q9NRM1 No chr4 71494461 71512536 70627471 70646819 +PA27782 8507 HGNC:3345 ENSG00000171617 ectodermal-neural cortex 1 ENC1 ectodermal-neural cortex 1 (with BTB domain), kelch-like family member 37 ENC-1, KLHL37, NRPB, PIG10, TP53I10 Yes No Comparative Toxicogenomics Database:8507, Ensembl:ENSG00000171617, GenAtlas:ENC1, GeneCard:ENC1, HGNC:HGNC:3345, HumanCyc Gene:HS10355, ModBase:O14682, NCBI Gene:8507, OMIM:605173, RefSeq DNA:NT_006713, RefSeq Protein:NP_003624, RefSeq RNA:NM_003633, UCSC Genome Browser:NM_003633, UniProtKB:O14682, UniProtKB:Q53XS2 No chr5 73923231 73937249 74627406 74641424 +PA143485454 23052 HGNC:29129 ENSG00000149218 endonuclease domain containing 1 ENDOD1 KIAA0830 Yes No Comparative Toxicogenomics Database:23052, Ensembl:ENSG00000149218, GeneCard:ENDOD1, HGNC:HGNC:29129, ModBase:O94919, NCBI Gene:23052, RefSeq DNA:NT_167190, RefSeq Protein:NP_055851, RefSeq RNA:NM_015036, UniProtKB:O94919 No chr11 94822974 94865815 95089810 95132651 +PA27783 2021 HGNC:3346 ENSG00000167136 endonuclease G ENDOG Yes No Comparative Toxicogenomics Database:2021, Ensembl:ENSG00000167136, GenAtlas:ENDOG, GeneCard:ENDOG, HGNC:HGNC:3346, HumanCyc Gene:HS09517, ModBase:Q14249, NCBI Gene:2021, OMIM:600440, RefSeq DNA:NT_008470, RefSeq Protein:NP_004426, RefSeq RNA:NM_004435, UCSC Genome Browser:NM_004435, UniProtKB:Q14249 No chr9 131580779 131584955 128818402 128822676 +PA165512645 8909 HGNC:14369 ENSG00000111405 endonuclease, poly(U) specific ENDOU endonuclease, polyU-specific P11, PP11, PRSS26 Yes No Ensembl:ENSG00000111405, GeneCard:ENDOU, HGNC:HGNC:14369, HumanCyc Gene:HS03415, NCBI Gene:8909, OMIM:606720, RefSeq DNA:NT_029419, RefSeq Protein:NP_001165910, RefSeq Protein:NP_001165911, RefSeq Protein:NP_006016, RefSeq RNA:NM_001172439, RefSeq RNA:NM_001172440, RefSeq RNA:NM_006025, UniProtKB:P21128 No chr12 48103517 48119355 47709734 47725572 +PA166048970 284131 HGNC:26640 ENSG00000173818 endonuclease V ENDOV FLJ35220 Yes No Ensembl:ENSG00000173818, HGNC:HGNC:26640, NCBI Gene:284131 No chr17 78388965 78411886 80415117 80438086 +PA27785 2022 HGNC:3349 ENSG00000106991 endoglin ENG CD105, END, HHT1, ORW, ORW1 Yes Yes Comparative Toxicogenomics Database:2022, Ensembl:ENSG00000106991, GenAtlas:ENG, GeneCard:ENG, HGNC:HGNC:3349, HumanCyc Gene:HS02964, NCBI Gene:2022, OMIM:131195, OMIM:187300, RefSeq DNA:NG_009551, RefSeq DNA:NT_008470, RefSeq Protein:NP_000109, RefSeq Protein:NP_001108225, RefSeq RNA:NM_000118, RefSeq RNA:NM_001114753, UCSC Genome Browser:NM_000118, UniProtKB:P17813, UniProtKB:Q5T9B9 No chr9 130577291 130617052 127815012 127854773 +PA164719123 64772 HGNC:24622 ENSG00000167280 endo-beta-N-acetylglucosaminidase ENGASE Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase, Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase FLJ21865 Yes No Ensembl:ENSG00000167280, GeneCard:ENGASE, HGNC:HGNC:24622, HumanCyc Gene:HS09534, NCBI Gene:64772, OMIM:611898, RefSeq DNA:NT_010783, RefSeq Protein:NP_001036038, RefSeq RNA:NM_001042573, UniProtKB:Q8NFI3 No chr17 77067565 77084685 79074812 79088603 +PA164719156 375704 HGNC:24838 ENSG00000168913 energy homeostasis associated ENHO adropin C9orf165, UNQ470 Yes No Ensembl:ENSG00000168913, GeneCard:ENHO, HGNC:HGNC:24838, NCBI Gene:375704, RefSeq DNA:NT_008413, RefSeq Protein:NP_940975, RefSeq RNA:NM_198573, UniProtKB:Q6UWT2 No chr9 34521040 34523037 34521042 34523039 +PA142672256 84080 HGNC:25246 ENSG00000124074 enkurin domain containing 1 ENKD1 C16orf48, DKFZP434A1319, FBB11 Yes No Ensembl:ENSG00000124074, GeneCard:C16orf48, HGNC:HGNC:25246, HumanCyc Gene:HS13105, ModBase:Q9H0I2, NCBI Gene:84080, RefSeq DNA:NT_010498, RefSeq Protein:NP_115516, RefSeq RNA:NM_032140, UniProtKB:Q9H0I2 No chr16 67696850 67700628 67662947 67666725 +PA165548526 219670 HGNC:28388 ENSG00000151023 enkurin, TRPC channel interacting protein ENKUR C10orf63, CFAP106, MGC26778, enkurin Yes No Ensembl:ENSG00000151023, GeneCard:ENKUR, HGNC:HGNC:28388, HumanCyc Gene:HS14348, ModBase:Q8TC29, NCBI Gene:219670, OMIM:611025, RefSeq DNA:NT_008705, RefSeq Protein:NP_659447, RefSeq RNA:NM_145010, UniProtKB:Q8TC29 No chr10 25270908 25351208 24981979 25062279 +PA27786 2023 HGNC:3350 ENSG00000074800 enolase 1 ENO1 """alpha-enolase"", ""enolase 1, (alpha)""" ENO1-IT1, ENO1L1, MBP-1, MPB1, PPH Yes No Comparative Toxicogenomics Database:2023, Ensembl:ENSG00000074800, GenAtlas:ENO1, GeneCard:ENO1, HGNC:HGNC:3350, HumanCyc Gene:HS01152, ModBase:Q6GMP2, NCBI Gene:2023, OMIM:172430, RefSeq DNA:NT_021937, RefSeq Protein:NP_001188412, RefSeq Protein:NP_001419, RefSeq RNA:NM_001201483, RefSeq RNA:NM_001428, UCSC Genome Browser:NM_001428, UniProtKB:P06733 No chr1 8921059 8939151 8861000 8879092 +PA27787 2025 HGNC:3352 ENSG00000244457 enolase 1, (alpha) pseudogene 1 ENO1P1 Yes No Ensembl:ENSG00000244457, GenAtlas:ENO1P, GeneCard:ENO1P1, HGNC:HGNC:3352, NCBI Gene:2025, RefSeq DNA:NG_001115, RefSeq DNA:NT_004836, RefSeq DNA:NT_167186 No chr1 236646398 236648205 236483098 236484905 +PA165696580 100885799 HGNC:37945 ENSG00000241790 enolase 1, (alpha) pseudogene 4 ENO1P4 Yes No Ensembl:ENSG00000241790, HGNC:HGNC:37945, NCBI Gene:100885799 No chr2 202486369 202488153 201622817 201623255 +PA27788 2026 HGNC:3353 ENSG00000111674 enolase 2 ENO2 """enolase 2 (gamma, neuronal)"", ""gamma-enolase"", ""neuron specific enolase"", ""neuronal enriched enolase""" NSE Yes No Comparative Toxicogenomics Database:2026, Ensembl:ENSG00000111674, GenAtlas:ENO2, GeneCard:ENO2, HGNC:HGNC:3353, HumanCyc Gene:HS03444, HumanCyc Gene:HS10646, ModBase:P09104, NCBI Gene:2026, OMIM:131360, RefSeq DNA:NT_009759, RefSeq Protein:NP_001966, RefSeq RNA:NM_001975, UCSC Genome Browser:NM_001975, UniProtKB:P09104, UniProtKB:Q6FHV6 No chr12 7023614 7032860 6914450 6923696 +PA27789 2027 HGNC:3354 ENSG00000108515 enolase 3 ENO3 """beta-enolase"", ""enolase 3 (beta, muscle)"", ""muscle enriched enolase""" Yes No Comparative Toxicogenomics Database:2027, Ensembl:ENSG00000108515, GenAtlas:ENO3, GeneCard:ENO3, HGNC:HGNC:3354, HumanCyc Gene:HS03116, ModBase:P13929, NCBI Gene:2027, OMIM:131370, OMIM:612932, RefSeq DNA:NG_012063, RefSeq DNA:NT_010718, RefSeq Protein:NP_001180432, RefSeq Protein:NP_001967, RefSeq Protein:NP_443739, RefSeq RNA:NM_001193503, RefSeq RNA:NM_001976, RefSeq RNA:NM_053013, UCSC Genome Browser:NM_001976, UniProtKB:P13929 No chr17 4853404 4860426 4949182 4957131 +PA165548527 387712 HGNC:31670 ENSG00000188316 enolase 4 ENO4 enolase family member 4 AC023283.3, C10orf134 Yes No Ensembl:ENSG00000188316, GeneCard:ENO4, HGNC:HGNC:31670, NCBI Gene:387712, RefSeq DNA:NT_030059, RefSeq Protein:NP_001229628, RefSeq Protein:XP_001721899, RefSeq Protein:XP_370577, RefSeq Protein:XP_944914, RefSeq RNA:NM_001242699, RefSeq RNA:XM_001721847, RefSeq RNA:XM_370577, RefSeq RNA:XM_939821 No chr10 118608741 118642112 116848230 116911803 +PA162385052 58478 HGNC:24599 ENSG00000145293 enolase-phosphatase 1 ENOPH1 Enolase-phosphatase E1, acireductone synthase E1, MASA, mtnC Yes No Ensembl:ENSG00000145293, GeneCard:ENOPH1, HGNC:HGNC:24599, HumanCyc Gene:HS07242, ModBase:Q9UHY7, NCBI Gene:58478, RefSeq DNA:NT_016354, RefSeq Protein:NP_067027, RefSeq RNA:NM_021204, UniProtKB:Q9UHY7 No chr4 83351726 83382245 82430480 82461175 +PA134897613 55556 HGNC:30365 ENSG00000132199 enolase superfamily member 1 ENOSF1 L-fuconate dehydratase FUCD, HSRTSBETA, TYMSAS, rTS Yes Yes Comparative Toxicogenomics Database:55556, Ensembl:ENSG00000132199, GeneCard:ENOSF1, HGNC:HGNC:30365, HumanCyc Gene:HS05605, ModBase:Q7L5Y1, NCBI Gene:55556, OMIM:607427, RefSeq DNA:NT_010859, RefSeq Protein:NP_001119595, RefSeq Protein:NP_059982, RefSeq Protein:NP_974487, RefSeq RNA:NM_001126123, RefSeq RNA:NM_017512, RefSeq RNA:NM_202758, UniProtKB:A6NMP3, UniProtKB:Q6ZS08, UniProtKB:Q7L5Y1 No chr18 670324 712662 670012 712664 +PA162385069 55068 HGNC:25474 ENSG00000120658 ecto-NOX disulfide-thiol exchanger 1 ENOX1 ecto-NADPH oxidase disulfide-thiol exchanger 1 CNOX, FLJ10094, PIG38, cCNOX Yes No Ensembl:ENSG00000120658, GeneCard:ENOX1, HGNC:HGNC:25474, HumanCyc Gene:HS04414, ModBase:Q8TC92, NCBI Gene:55068, OMIM:610914, RefSeq DNA:NT_024524, RefSeq Protein:NP_001121087, RefSeq Protein:NP_001229792, RefSeq Protein:NP_060463, RefSeq RNA:NM_001127615, RefSeq RNA:NM_001242863, RefSeq RNA:NM_017993, UniProtKB:Q8TC92 No chr13 43787335 44361116 43213525 43786980 +PA162385106 10495 HGNC:2259 ENSG00000165675 ecto-NOX disulfide-thiol exchanger 2 ENOX2 ecto-NADPH oxidase disulfide-thiol exchanger 2, tumor-associated NADH oxidase APK1, COVA1, tNOX Yes No Ensembl:ENSG00000165675, GeneCard:ENOX2, HGNC:HGNC:2259, HumanCyc Gene:HS09266, ModBase:Q16206, NCBI Gene:10495, OMIM:300282, RefSeq DNA:NG_012562, RefSeq DNA:NT_011786, RefSeq Protein:NP_006366, RefSeq Protein:NP_872114, RefSeq RNA:NM_006375, RefSeq RNA:NM_182314, UniProtKB:Q16206 No chrX 129757355 130037219 130622330 130903317 +PA27790 2028 HGNC:3355 ENSG00000138792 glutamyl aminopeptidase ENPEP glutamyl aminopeptidase (aminopeptidase A) CD249, gp160 Yes No Comparative Toxicogenomics Database:2028, Ensembl:ENSG00000138792, GenAtlas:ENPEP, GeneCard:ENPEP, HGNC:HGNC:3355, HumanCyc Gene:HS06560, ModBase:Q07075, NCBI Gene:2028, OMIM:138297, RefSeq DNA:NT_016354, RefSeq Protein:NP_001968, RefSeq RNA:NM_001977, UCSC Genome Browser:NM_001977, UniProtKB:Q07075 No chr4 111397229 111484493 110476073 110563337 +PA27791 5167 HGNC:3356 ENSG00000197594 ectonucleotide pyrophosphatase/phosphodiesterase 1 ENPP1 M6S1, NPPS, PC-1, PCA1, PDNP1 Yes No Comparative Toxicogenomics Database:5167, Ensembl:ENSG00000197594, GenAtlas:ENPP1, GeneCard:ENPP1, HGNC:HGNC:3356, HumanCyc Gene:HS03544, ModBase:P22413, NCBI Gene:5167, OMIM:125853, OMIM:173335, OMIM:208000, OMIM:601665, OMIM:602475, OMIM:613312, RefSeq DNA:NG_008206, RefSeq DNA:NT_025741, RefSeq Protein:NP_006199, RefSeq RNA:NM_006208, UCSC Genome Browser:NM_006208, UniProtKB:P22413 No chr6 132129156 132216295 131808016 131895155 +PA27792 5168 HGNC:3357 ENSG00000136960 ectonucleotide pyrophosphatase/phosphodiesterase 2 ENPP2 autotaxin ATX, PD-IALPHA, PDNP2 Yes Yes Comparative Toxicogenomics Database:5168, Ensembl:ENSG00000136960, GenAtlas:ENPP2, GeneCard:ENPP2, HGNC:HGNC:3357, HumanCyc Gene:HS06258, ModBase:Q9UCR2, NCBI Gene:5168, OMIM:601060, RefSeq DNA:NT_008046, RefSeq Protein:NP_001035181, RefSeq Protein:NP_001124335, RefSeq Protein:NP_006200, RefSeq RNA:NM_001040092, RefSeq RNA:NM_001130863, RefSeq RNA:NM_006209, UCSC Genome Browser:NM_006209, UniProtKB:Q13822 No chr8 120569317 120685644 119557077 119673404 +PA27793 5169 HGNC:3358 ENSG00000154269 ectonucleotide pyrophosphatase/phosphodiesterase 3 ENPP3 B10, CD203c, PD-IBETA, PDNP3, gp130RB13-6 Yes No Comparative Toxicogenomics Database:5169, Ensembl:ENSG00000154269, GenAtlas:ENPP3, GeneCard:ENPP3, HGNC:HGNC:3358, HumanCyc Gene:HS07969, ModBase:O14638, NCBI Gene:5169, OMIM:602182, RefSeq DNA:NT_025741, RefSeq Protein:NP_005012, RefSeq RNA:NM_005021, UCSC Genome Browser:NM_005021, UniProtKB:O14638, UniProtKB:Q308M7 No chr6 131958375 132068550 131637235 131747413 +PA27794 22875 HGNC:3359 ENSG00000001561 ectonucleotide pyrophosphatase/phosphodiesterase 4 ENPP4 AP3A hydrolase, Bis(5'-adenosyl)-triphosphatase, ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) AP3Aase, KIAA0879, NPP4 Yes No Comparative Toxicogenomics Database:22875, Ensembl:ENSG00000001561, GenAtlas:ENPP4, GeneCard:ENPP4, HGNC:HGNC:3359, HumanCyc Gene:HS00073, ModBase:Q9Y6X5, NCBI Gene:22875, RefSeq DNA:NT_007592, RefSeq Protein:NP_055751, RefSeq RNA:NM_014936, UCSC Genome Browser:NM_014936, UniProtKB:Q9Y6X5 No chr6 46097701 46114436 46129964 46146699 +PA27795 59084 HGNC:13717 ENSG00000112796 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) Yes No Comparative Toxicogenomics Database:59084, Ensembl:ENSG00000112796, GenAtlas:ENPP5, GeneCard:ENPP5, HGNC:HGNC:13717, HumanCyc Gene:HS03621, ModBase:Q9UJA9, NCBI Gene:59084, RefSeq DNA:NT_007592, RefSeq Protein:NP_067547, RefSeq RNA:NM_021572, UCSC Genome Browser:NM_021572, UniProtKB:Q9UJA9 No chr6 46126922 46138737 46159182 46171045 +PA134945118 133121 HGNC:23409 ENSG00000164303 ectonucleotide pyrophosphatase/phosphodiesterase 6 ENPP6 MGC33971 Yes No Comparative Toxicogenomics Database:133121, Ensembl:ENSG00000164303, GeneCard:ENPP6, HGNC:HGNC:23409, HumanCyc Gene:HS09057, ModBase:Q6UWR7, NCBI Gene:133121, RefSeq DNA:NT_016354, RefSeq Protein:NP_699174, RefSeq RNA:NM_153343, UniProtKB:Q6UWR7 No chr4 185009859 185139114 184088706 184217961 +PA134986550 339221 HGNC:23764 ENSG00000182156 ectonucleotide pyrophosphatase/phosphodiesterase 7 ENPP7 alkaline sphingomyelinase NPP7, alk-SMase Yes No Ensembl:ENSG00000182156, GeneCard:ENPP7, HGNC:HGNC:23764, ModBase:Q6UWV6, NCBI Gene:339221, RefSeq DNA:NT_010783, RefSeq Protein:NP_848638, RefSeq RNA:NM_178543, UniProtKB:Q6UWV6 No chr17 77704882 77716021 79730919 79742926 +PA27796 2029 HGNC:3360 ENSG00000143420 endosulfine alpha ENSA ARPP-19e, MGC4319, MGC78563, MGC8394 Yes No Ensembl:ENSG00000143420, GenAtlas:ENSA, GeneCard:ENSA, HGNC:HGNC:3360, HumanCyc Gene:HS07051, NCBI Gene:2029, OMIM:603061, RefSeq DNA:NT_004487, RefSeq Protein:NP_004427, RefSeq Protein:NP_996925, RefSeq Protein:NP_996926, RefSeq Protein:NP_996927, RefSeq Protein:NP_996928, RefSeq Protein:NP_996929, RefSeq Protein:NP_996930, RefSeq Protein:NP_997051, RefSeq RNA:NM_004436, RefSeq RNA:NM_207042, RefSeq RNA:NM_207043, RefSeq RNA:NM_207044, RefSeq RNA:NM_207045, RefSeq RNA:NM_207046, RefSeq RNA:NM_207047, RefSeq RNA:NM_207168, UCSC Genome Browser:NM_004436, UniProtKB:O43768 No chr1 150594599 150602098 150622123 150629622 +PA27797 170511 HGNC:16588 ENSG00000224274 endosulfine alpha pseudogene 1 ENSAP1 dJ822J19.1 Yes No Ensembl:ENSG00000224274, GenAtlas:ENSAP, GeneCard:ENSAP1, HGNC:HGNC:16588, NCBI Gene:170511, RefSeq DNA:NG_001035, RefSeq DNA:NT_011387 No chr20 15600039 15600564 15619394 15619919 +PA134864339 319114 HGNC:20011 ENSG00000259032 endosulfine alpha pseudogene 2 ENSAP2 Yes No Ensembl:ENSG00000259032, GeneCard:ENSAP2, HGNC:HGNC:20011, NCBI Gene:319114, RefSeq DNA:NG_002495, RefSeq DNA:NT_026437 No chr14 83158851 83159542 82692507 82693198 +PA145148940 150350 HGNC:26352 ENSG00000176177 ENTH domain containing 1 ENTHD1 FLJ25421 Yes No Ensembl:ENSG00000176177, GeneCard:ENTHD1, HGNC:HGNC:26352, HumanCyc Gene:HS16604, ModBase:Q8IYW4, NCBI Gene:150350, RefSeq DNA:NT_011520, RefSeq Protein:NP_689725, RefSeq RNA:NM_152512, UniProtKB:Q8IYW4 No chr22 40139049 40289794 39743044 39893884 +PA27798 953 HGNC:3363 ENSG00000138185 ectonucleoside triphosphate diphosphohydrolase 1 ENTPD1 ATPDase, CD39, NTPDase-1, SPG64 Yes No Comparative Toxicogenomics Database:953, Ensembl:ENSG00000138185, GenAtlas:ENTPD1, GeneCard:ENTPD1, HGNC:HGNC:3363, HumanCyc Gene:HS06471, ModBase:P49961, NCBI Gene:953, OMIM:601752, RefSeq DNA:NT_030059, RefSeq Protein:NP_001091645, RefSeq Protein:NP_001157650, RefSeq Protein:NP_001157651, RefSeq Protein:NP_001157653, RefSeq Protein:NP_001157654, RefSeq Protein:NP_001157655, RefSeq Protein:NP_001767, RefSeq RNA:NM_001098175, RefSeq RNA:NM_001164178, RefSeq RNA:NM_001164179, RefSeq RNA:NM_001164181, RefSeq RNA:NM_001164182, RefSeq RNA:NM_001164183, RefSeq RNA:NM_001776, UCSC Genome Browser:NM_001776, UniProtKB:B4DWB9, UniProtKB:B7Z599, UniProtKB:P49961, UniProtKB:Q86VV3 No chr10 97471536 97637023 95710901 95877266 +PA27799 954 HGNC:3364 ENSG00000054179 ectonucleoside triphosphate diphosphohydrolase 2 ENTPD2 CD39-like-1, ecto-ATPase CD39L1, NTPDase-2 Yes No Comparative Toxicogenomics Database:954, Ensembl:ENSG00000054179, GenAtlas:ENTPD2, GeneCard:ENTPD2, HGNC:HGNC:3364, HumanCyc Gene:HS00665, ModBase:Q9Y5L3, NCBI Gene:954, OMIM:602012, RefSeq DNA:NT_024000, RefSeq Protein:NP_001237, RefSeq Protein:NP_982293, RefSeq RNA:NM_001246, RefSeq RNA:NM_203468, UCSC Genome Browser:NM_001246, UniProtKB:Q5SPY7, UniProtKB:Q9Y5L3 No chr9 139942550 139948503 137048098 137054051 +PA27800 956 HGNC:3365 ENSG00000168032 ectonucleoside triphosphate diphosphohydrolase 3 ENTPD3 CD39L3, HB6, NTPDase-3 Yes No Comparative Toxicogenomics Database:956, Ensembl:ENSG00000168032, GenAtlas:ENTPD3, GeneCard:ENTPD3, HGNC:HGNC:3365, HumanCyc Gene:HS09682, NCBI Gene:956, OMIM:603161, RefSeq DNA:NT_022517, RefSeq Protein:NP_001239, RefSeq RNA:NM_001248, UCSC Genome Browser:NM_001248, UniProtKB:O75355 No chr3 40428647 40470110 40387156 40428626 +PA30502 9583 HGNC:14573 ENSG00000197217 ectonucleoside triphosphate diphosphohydrolase 4 ENTPD4 KIAA0392, LALP70, LAP70, LYSAL1, NTPDase-4, UDPase Yes No Ensembl:ENSG00000197217, GenAtlas:ENTPD4, GeneCard:ENTPD4, HGNC:HGNC:14573, HumanCyc Gene:HS09501, ModBase:Q9Y227, NCBI Gene:9583, OMIM:607577, RefSeq DNA:NT_167187, RefSeq Protein:NP_001122402, RefSeq Protein:NP_004892, RefSeq RNA:NM_001128930, RefSeq RNA:NM_004901, UCSC Genome Browser:NM_004901, UniProtKB:Q8NE73, UniProtKB:Q9Y227 No chr8 23284687 23315244 23429152 23457731 +PA27802 957 HGNC:3367 ENSG00000187097 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 CD39L4, NTPDase-5, PCPH Yes No Comparative Toxicogenomics Database:957, Ensembl:ENSG00000187097, GenAtlas:ENTPD5, GeneCard:ENTPD5, HGNC:HGNC:3367, HumanCyc Gene:HS06680, ModBase:O75356, NCBI Gene:957, OMIM:603162, RefSeq DNA:NT_026437, RefSeq Protein:NP_001240, RefSeq RNA:NM_001249, UCSC Genome Browser:NM_001249, UniProtKB:A1L4C5, UniProtKB:O75356 No chr14 74426169 74486026 73959420 74019326 +PA27803 955 HGNC:3368 ENSG00000197586 ectonucleoside triphosphate diphosphohydrolase 6 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 (putative) CD39L2, IL6ST2, NTPDase-6, dJ738P15.3 Yes No Ensembl:ENSG00000197586, GenAtlas:ENTPD6, GeneCard:ENTPD6, HGNC:HGNC:3368, HumanCyc Gene:HS02177, ModBase:O75354, NCBI Gene:955, OMIM:603160, RefSeq DNA:NT_011387, RefSeq Protein:NP_001107561, RefSeq Protein:NP_001238, RefSeq RNA:NM_001114089, RefSeq RNA:NM_001247, UCSC Genome Browser:NM_001247, UniProtKB:O75354 No chr20 25176327 25207365 25195670 25228075 +PA134993462 57089 HGNC:19745 ENSG00000198018 ectonucleoside triphosphate diphosphohydrolase 7 ENTPD7 FLJ30978, LALP1 Yes No Ensembl:ENSG00000198018, GeneCard:ENTPD7, HGNC:HGNC:19745, ModBase:Q9NQZ7, NCBI Gene:57089, RefSeq DNA:NT_030059, RefSeq Protein:NP_065087, RefSeq RNA:NM_020354, UniProtKB:Q9NQZ7 No chr10 101419263 101471002 99659506 99711245 +PA142671906 377841 HGNC:24860 ENSG00000188833 ectonucleoside triphosphate diphosphohydrolase 8 ENTPD8 GLSR2492 NTPDase-8, UNQ2492 Yes No Comparative Toxicogenomics Database:377841, Ensembl:ENSG00000188833, GeneCard:ENTPD8, HGNC:HGNC:24860, ModBase:Q5MY95, NCBI Gene:377841, RefSeq DNA:NT_024000, RefSeq Protein:NP_001028285, RefSeq Protein:NP_940987, RefSeq RNA:NM_001033113, RefSeq RNA:NM_198585, UniProtKB:Q5MY95 No chr9 140328816 140335901 137434364 137441710 +PA35597 10807 HGNC:10667 ENSG00000165689 endosome associated trafficking regulator 1 ENTR1 serologically defined colon cancer antigen 3 NY-CO-3, SDCCAG3 Yes No Comparative Toxicogenomics Database:10807, Ensembl:ENSG00000165689, GenAtlas:SDCCAG3, GeneCard:SDCCAG3, HGNC:HGNC:10667, HumanCyc Gene:HS09271, ModBase:Q6V704, NCBI Gene:10807, RefSeq DNA:NT_024000, RefSeq Protein:NP_001034796, RefSeq Protein:NP_001034797, RefSeq Protein:NP_006634, RefSeq RNA:NM_001039707, RefSeq RNA:NM_001039708, RefSeq RNA:NM_006643, UCSC Genome Browser:NM_006643, UniProtKB:Q96C92 No chr9 139296374 139305054 136401922 136410602 +PA165585777 9413 HGNC:24820 ENSG00000135063 endosomal transmembrane epsin interactor 1 ENTREP1 """endosomal transmembrane binding with epsin"", ""family with sequence similarity 189 member A2"", ""family with sequence similarity 189, member A2""" C9orf61, ENTREP, FAM189A2, X123 Yes No Ensembl:ENSG00000135063, GeneCard:FAM189A2, HGNC:HGNC:24820, HumanCyc Gene:HS13558, NCBI Gene:9413, OMIM:607710, RefSeq DNA:NT_008470, RefSeq DNA:NT_023935, RefSeq Protein:NP_001121080, RefSeq Protein:NP_004807, RefSeq RNA:NM_001127608, RefSeq RNA:NM_004816, UniProtKB:Q15884, UniProtKB:Q8WU02 No chr9 71939287 72007372 69324572 69392461 +PA165478574 23359 HGNC:29075 ENSG00000104059 endosomal transmembrane epsin interactor 2 ENTREP2 """family with sequence similarity 189 member A1"", ""family with sequence similarity 189, member A1"", ""transmembrane protein 228""" FAM189A1, KIAA0574, TMEM228 Yes No Ensembl:ENSG00000104059, GeneCard:FAM189A1, HGNC:HGNC:29075, NCBI Gene:23359, RefSeq DNA:NT_010194, RefSeq Protein:NP_056122, RefSeq RNA:NM_015307, UniProtKB:O60320 No chr15 29412455 29862927 29120252 29570723 +PA25608 10712 HGNC:1233 ENSG00000160767 endosomal transmembrane epsin interactor 3 ENTREP3 """family with sequence similarity 189 member B"", ""family with sequence similarity 189, member B""" C1orf2, FAM189B, cote1 Yes No Ensembl:ENSG00000160767, GenAtlas:C1orf2, GeneCard:C1orf2, GeneCard:FAM189B, HGNC:HGNC:1233, HumanCyc Gene:HS08531, ModBase:P81408, NCBI Gene:10712, RefSeq DNA:NG_009783, RefSeq DNA:NT_004487, RefSeq Protein:NP_006580, RefSeq Protein:NP_937995, RefSeq RNA:NM_006589, RefSeq RNA:NM_198264, UCSC Genome Browser:NM_006589, UniProtKB:P81408, UniProtKB:Q96AD8, UniProtKB:Q96H71 No chr1 155216996 155225274 155247205 155255483 +PA142671907 56943 HGNC:24449 ENSG00000120533 ENY2 transcription and export complex 2 subunit ENY2 """ENY2, transcription and export complex 2 subunit"", ""enhancer of yellow 2 homolog (Drosophila)""" DC6, FLJ20480, Sus1 Yes No Ensembl:ENSG00000120533, GeneCard:ENY2, HGNC:HGNC:24449, HumanCyc Gene:HS12994, NCBI Gene:56943, RefSeq DNA:NT_008046, RefSeq Protein:NP_001180486, RefSeq Protein:NP_064574, RefSeq RNA:NM_001193557, RefSeq RNA:NM_020189, RefSeq RNA:NR_036471, RefSeq RNA:NR_036472, UniProtKB:Q9NPA8 No chr8 110346552 110358189 109334323 109345960 +PA143485338 285203 HGNC:28526 ENSG00000163378 EGF domain specific O-linked N-acetylglucosamine transferase EOGT AER61 glycosyltransferase, EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase AER61, C3orf64, FLJ33770 Yes No Ensembl:ENSG00000163378, GeneCard:C3orf64, HGNC:HGNC:28526, NCBI Gene:285203, RefSeq DNA:NT_022459, RefSeq Protein:NP_775925, RefSeq RNA:NM_173654, UniProtKB:Q5NDL2 No chr3 69024363 69063112 68975212 69013961 +PA166352502 91966 HGNC:28089 endothelium and lymphocyte associated ASCH domain 1 EOLA1 CXorf40, CXorf40A, endothelial-overexpressed lipopolysaccharide-associated factor 1 Yes No HGNC:HGNC:28089, NCBI Gene:91966 No 0 0 0 0 +PA166352503 541578 HGNC:17402 endothelium and lymphocyte associated ASCH domain 2 EOLA2 CXorf40B Yes No HGNC:HGNC:17402, NCBI Gene:541578 No 0 0 0 0 +PA27806 8320 HGNC:3372 ENSG00000163508 eomesodermin EOMES T-box brain2 TBR2 Yes Yes Comparative Toxicogenomics Database:8320, Ensembl:ENSG00000163508, GenAtlas:EOMES, GeneCard:EOMES, HGNC:HGNC:3372, HumanCyc Gene:HS08863, ModBase:O95936, NCBI Gene:8320, OMIM:604615, RefSeq DNA:NT_022517, RefSeq Protein:NP_005433, RefSeq RNA:NM_005442, UCSC Genome Browser:NM_005442, UniProtKB:O95936 No chr3 27757440 27764206 27715949 27722715 +PA27807 2033 HGNC:3373 ENSG00000100393 E1A binding protein p300 EP300 histone acetyltransferase p300 KAT3B, p300 Yes No Comparative Toxicogenomics Database:2033, Ensembl:ENSG00000100393, GenAtlas:EP300, GeneCard:EP300, HGNC:HGNC:3373, HumanCyc Gene:HS02071, ModBase:Q09472, NCBI Gene:2033, OMIM:114500, OMIM:180849, OMIM:602700, RefSeq DNA:NG_009817, RefSeq DNA:NT_011520, RefSeq Protein:NP_001420, RefSeq RNA:NM_001429, UCSC Genome Browser:NM_001429, UniProtKB:Q09472, UniProtKB:Q7Z6C1 No chr22 41488614 41576081 41092610 41180077 +PA27808 57634 HGNC:11958 ENSG00000183495 E1A binding protein p400 EP400 hDomino(p400) CAGH32, DKFZP434I225, KIAA1498, KIAA1818, P400, TNRC12 Yes No Comparative Toxicogenomics Database:57634, Ensembl:ENSG00000183495, GenAtlas:EP400, GeneCard:EP400, HGNC:HGNC:11958, NCBI Gene:57634, OMIM:606265, RefSeq DNA:NT_009755, RefSeq Protein:NP_056224, RefSeq RNA:NM_015409, UCSC Genome Browser:NM_015409, UniProtKB:A8MSW4, UniProtKB:Q96L91 No chr12 132434465 132565011 131949920 132080466 +PA27809 2034 HGNC:3374 ENSG00000116016 endothelial PAS domain protein 1 EPAS1 HIF-1 alpha-like factor HIF2A, HLF, MOP2, PASD2, bHLHe73 Yes Yes Comparative Toxicogenomics Database:2034, Ensembl:ENSG00000116016, GenAtlas:EPAS1, GeneCard:EPAS1, HGNC:HGNC:3374, HumanCyc Gene:HS03969, ModBase:Q99814, NCBI Gene:2034, OMIM:603349, OMIM:611783, RefSeq DNA:NG_016000, RefSeq DNA:NT_022184, RefSeq Protein:NP_001421, RefSeq RNA:NM_001430, UCSC Genome Browser:NM_001430, UniProtKB:B3KW07, UniProtKB:Q99814 No chr2 46524541 46613842 46297402 46386703 +PA27810 2035 HGNC:3377 ENSG00000159023 erythrocyte membrane protein band 4.1 EPB41 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 4.1R, EL1 Yes Yes Comparative Toxicogenomics Database:2035, Ensembl:ENSG00000159023, GenAtlas:EPB41, GeneCard:EPB41, HGNC:HGNC:3377, HumanCyc Gene:HS08350, ModBase:Q9Y579, NCBI Gene:2035, OMIM:130500, OMIM:611804, RefSeq DNA:NG_013344, RefSeq DNA:NT_004610, RefSeq Protein:NP_001159477, RefSeq Protein:NP_001159478, RefSeq Protein:NP_001159479, RefSeq Protein:NP_004428, RefSeq Protein:NP_976217, RefSeq Protein:NP_976218, RefSeq RNA:NM_001166005, RefSeq RNA:NM_001166006, RefSeq RNA:NM_001166007, RefSeq RNA:NM_004437, RefSeq RNA:NM_203342, RefSeq RNA:NM_203343, UCSC Genome Browser:NM_004437, UniProtKB:P11171, UniProtKB:Q1WWM3, UniProtKB:Q29RX4, UniProtKB:Q59F12 No chr1 29213603 29446558 28887091 29120046 +PA27811 2036 HGNC:3378 ENSG00000088367 erythrocyte membrane protein band 4.1 like 1 EPB41L1 erythrocyte membrane protein band 4.1-like 1 4.1N, KIAA0338 Yes No Ensembl:ENSG00000088367, GenAtlas:EPB41L1, GeneCard:EPB41L1, HGNC:HGNC:3378, HumanCyc Gene:HS01600, ModBase:Q96CV5, NCBI Gene:2036, OMIM:602879, RefSeq DNA:NT_011362, RefSeq Protein:NP_036288, RefSeq Protein:NP_818932, RefSeq RNA:NM_012156, RefSeq RNA:NM_177996, UCSC Genome Browser:NM_012156, UniProtKB:Q9H4G0 No chr20 34679426 34820721 36064891 36232799 +PA27812 2037 HGNC:3379 ENSG00000079819 erythrocyte membrane protein band 4.1 like 2 EPB41L2 erythrocyte membrane protein band 4.1-like 2 4.1-G, 4.1G Yes No Comparative Toxicogenomics Database:2037, Ensembl:ENSG00000079819, GenAtlas:EPB41L2, GeneCard:EPB41L2, HGNC:HGNC:3379, HumanCyc Gene:HS01339, ModBase:O43491, NCBI Gene:2037, OMIM:603237, RefSeq DNA:NT_025741, RefSeq Protein:NP_001129026, RefSeq Protein:NP_001129027, RefSeq Protein:NP_001186317, RefSeq Protein:NP_001186318, RefSeq Protein:NP_001422, RefSeq RNA:NM_001135554, RefSeq RNA:NM_001135555, RefSeq RNA:NM_001199388, RefSeq RNA:NM_001199389, RefSeq RNA:NM_001431, UCSC Genome Browser:NM_001431, UniProtKB:B4DHI8, UniProtKB:O43491, UniProtKB:Q59FD8 No chr6 131160487 131384462 130829111 131063322 +PA27813 23136 HGNC:3380 ENSG00000082397 erythrocyte membrane protein band 4.1 like 3 EPB41L3 erythrocyte membrane protein band 4.1-like 3 4.1B, DAL1, KIAA0987 Yes No Comparative Toxicogenomics Database:23136, Ensembl:ENSG00000082397, GenAtlas:EPB41L3, GeneCard:EPB41L3, HGNC:HGNC:3380, HumanCyc Gene:HS01421, ModBase:Q9Y2J2, NCBI Gene:23136, OMIM:605331, RefSeq DNA:NT_010859, RefSeq Protein:NP_036439, RefSeq RNA:NM_012307, UCSC Genome Browser:NM_012307, UniProtKB:Q9Y2J2 No chr18 5392380 5630662 5392381 5630666 +PA134994123 64097 HGNC:13278 ENSG00000129595 erythrocyte membrane protein band 4.1 like 4A EPB41L4A NBL4 Yes No Comparative Toxicogenomics Database:64097, Ensembl:ENSG00000129595, GeneCard:EPB41L4A, HGNC:HGNC:13278, HumanCyc Gene:HS05298, ModBase:Q9HCS5, NCBI Gene:64097, OMIM:612141, RefSeq DNA:NT_034772, RefSeq Protein:NP_071423, RefSeq RNA:NM_022140, UniProtKB:Q8N8X1, UniProtKB:Q8NEH8, UniProtKB:Q9HCS5 No chr5 111478139 111755187 112141829 112419490 +PA165660388 114915 HGNC:30749 ENSG00000224032 EPB41L4A antisense RNA 1 EPB41L4A-AS1 transcript induced by growth arrest 1 TIGA1 Yes No Ensembl:ENSG00000224032, GeneCard:NCRNA00219, HGNC:HGNC:30749, NCBI Gene:114915, RefSeq DNA:NT_034772, RefSeq RNA:NM_053000, RefSeq RNA:NR_015370, RefSeq RNA:XR_040900, RefSeq RNA:XR_040901, RefSeq RNA:XR_040902 No chr5 111496223 111498198 112160526 112162501 +PA134986250 54566 HGNC:19818 ENSG00000095203 erythrocyte membrane protein band 4.1 like 4B EPB41L4B EHM2, LULU2 Yes No Ensembl:ENSG00000095203, GeneCard:EPB41L4B, HGNC:HGNC:19818, HumanCyc Gene:HS01813, ModBase:Q9H329, NCBI Gene:54566, OMIM:610340, RefSeq DNA:NT_008470, RefSeq Protein:NP_060894, RefSeq Protein:NP_061987, RefSeq RNA:NM_018424, RefSeq RNA:NM_019114, UniProtKB:Q59GC2, UniProtKB:Q9H329, UniProtKB:Q9NSG9, UniProtKB:Q9NX84 No chr9 111934254 112083021 109171974 109320964 +PA134862834 57669 HGNC:19819 ENSG00000115109 erythrocyte membrane protein band 4.1 like 5 EPB41L5 yurt homolog (Drosophila) BE37, FLJ12957, KIAA1548, LULU, LULU1, YMO1, YRT Yes No Ensembl:ENSG00000115109, GeneCard:EPB41L5, HGNC:HGNC:19819, HumanCyc Gene:HS03833, ModBase:Q9HCM4, NCBI Gene:57669, OMIM:611730, RefSeq DNA:NT_022135, RefSeq Protein:NP_001171866, RefSeq Protein:NP_001171867, RefSeq Protein:NP_001171868, RefSeq Protein:NP_065960, RefSeq RNA:NM_001184937, RefSeq RNA:NM_001184938, RefSeq RNA:NM_001184939, RefSeq RNA:NM_020909, UniProtKB:Q9HCM4 No chr2 120770604 120936697 120013028 120179121 +PA27814 2038 HGNC:3381 ENSG00000166947 erythrocyte membrane protein band 4.2 EPB42 Erythrocyte surface protein band 4.2 MGC116735, MGC116737, PA Yes No Ensembl:ENSG00000166947, GenAtlas:EPB42, GeneCard:EPB42, HGNC:HGNC:3381, HumanCyc Gene:HS09487, ModBase:P16452, NCBI Gene:2038, OMIM:177070, OMIM:612690, RefSeq DNA:NG_011505, RefSeq DNA:NT_010194, RefSeq Protein:NP_000110, RefSeq Protein:NP_001107606, RefSeq RNA:NM_000119, RefSeq RNA:NM_001114134, UCSC Genome Browser:NM_000119, UniProtKB:P16452 No chr15 43489425 43513323 43197227 43225856 +PA134981141 80314 HGNC:19876 ENSG00000120616 enhancer of polycomb homolog 1 EPC1 enhancer of polycomb homolog 1 (Drosophila) Epl1 Yes No Comparative Toxicogenomics Database:80314, Ensembl:ENSG00000120616, GeneCard:EPC1, HGNC:HGNC:19876, HumanCyc Gene:HS04412, ModBase:Q96RR6, NCBI Gene:80314, OMIM:610999, RefSeq DNA:NT_008705, RefSeq Protein:NP_079485, RefSeq RNA:NM_025209, UniProtKB:Q9H2F5 No chr10 32556644 32667726 32267716 32378798 +PA134875170 26122 HGNC:24543 ENSG00000135999 enhancer of polycomb homolog 2 EPC2 enhancer of polycomb homolog 2 (Drosophila) DKFZP566F2124 Yes No Comparative Toxicogenomics Database:26122, Ensembl:ENSG00000135999, GeneCard:EPC2, HGNC:HGNC:24543, HumanCyc Gene:HS13605, NCBI Gene:26122, OMIM:611000, RefSeq DNA:NT_022135, RefSeq Protein:NP_056445, RefSeq RNA:NM_015630, UniProtKB:Q52LR7 No chr2 149402560 149545136 148644780 148788491 +PA35493 4072 HGNC:11529 ENSG00000119888 epithelial cell adhesion molecule EPCAM trophoblast cell surface antigen 1 17-1A, 323/A3, Ber-Ep4, BerEp4, CD326, CO-17A, EGP-2, EGP34, EGP40, ESA, Ep-CAM, GA733-2, HEA125, KS1/4, KSA, Ly74, M4S1, MH99, MIC18, MK-1, MOC-31, MOC31, TACST-1, TACSTD1, TROP1 Yes No Comparative Toxicogenomics Database:4072, Ensembl:ENSG00000119888, GenAtlas:TACSTD1, GeneCard:EPCAM, GeneCard:TACSTD1, HGNC:HGNC:11529, HumanCyc Gene:HS04343, ModBase:P16422, NCBI Gene:4072, OMIM:185535, OMIM:613217, OMIM:613244, RefSeq DNA:NG_012352, RefSeq DNA:NT_022184, RefSeq Protein:NP_002345, RefSeq RNA:NM_002354, UCSC Genome Browser:NM_002354, UniProtKB:P16422 No chr2 47596287 47614167 47369148 47387028 +PA25857 56245 HGNC:1305 ENSG00000205929 exosomal polycystin 1 interacting protein EPCIP chromosome 21 open reading frame 62 B37, C21orf120, C21orf62, CU062, PRED81 Yes No Ensembl:ENSG00000205929, GenAtlas:C21orf62, GeneCard:C21orf62, HGNC:HGNC:1305, ModBase:Q9NYP8, NCBI Gene:56245, RefSeq DNA:NT_011512, RefSeq Protein:NP_001155967, RefSeq Protein:NP_001155968, RefSeq Protein:NP_062542, RefSeq RNA:NM_001162495, RefSeq RNA:NM_001162496, RefSeq RNA:NM_019596, UCSC Genome Browser:NM_019596, UniProtKB:Q9NYP8 No chr21 34162984 34186053 32790673 32813808 +PA142671908 54749 HGNC:17572 ENSG00000086289 ependymin related 1 EPDR1 ependymin related protein 1 (zebrafish) EPDR, MERP-1, MERP1, UCC1 Yes No Comparative Toxicogenomics Database:54749, Ensembl:ENSG00000086289, GeneCard:EPDR1, HGNC:HGNC:17572, HumanCyc Gene:HS01528, NCBI Gene:54749, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_060019, RefSeq RNA:NM_017549, UniProtKB:A4D1W8, UniProtKB:Q9UM22 No chr7 37960163 37991543 37920561 37951941 +PA134941500 57724 HGNC:29331 ENSG00000152223 ectopic P-granules 5 autophagy tethering factor EPG5 ectopic P-granules autophagy protein 5 homolog, ectopic P-granules autophagy protein 5 homolog (C. elegans) KIAA1632, hEPG5 Yes No Ensembl:ENSG00000152223, GeneCard:KIAA1632, HGNC:HGNC:29331, ModBase:Q9HCE0, NCBI Gene:57724, RefSeq DNA:NT_010966, RefSeq Protein:NP_066015, RefSeq RNA:NM_020964, UniProtKB:Q9BTI0, UniProtKB:Q9HCE0 No chr18 43427574 43547305 45800590 45967339 +PA162385143 255324 HGNC:17470 ENSG00000182585 epithelial mitogen EPGN ALGV3072, EPG, PRO9904, epigen Yes No Ensembl:ENSG00000182585, GeneCard:EPGN, HGNC:HGNC:17470, NCBI Gene:255324, RefSeq DNA:NT_022778, RefSeq Protein:NP_001013460, RefSeq RNA:NM_001013442, UniProtKB:Q6UW88 No chr4 75174187 75182520 74307571 74317298 +PA27817 2041 HGNC:3385 ENSG00000146904 EPH receptor A1 EPHA1 EPH, EPHT, EPHT1 Yes No Comparative Toxicogenomics Database:2041, Ensembl:ENSG00000146904, GenAtlas:EPHA1, GeneCard:EPHA1, HGNC:HGNC:3385, HumanCyc Gene:HS07379, ModBase:P21709, NCBI Gene:2041, OMIM:179610, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_005223, RefSeq RNA:NM_005232, UCSC Genome Browser:NM_005232, UniProtKB:B5A967, UniProtKB:P21709 No chr7 143088205 143105985 143390813 143408892 +PA134938798 284656 HGNC:19987 ENSG00000183317 EPH receptor A10 EPHA10 FLJ16103, FLJ33655 Yes No Ensembl:ENSG00000183317, GeneCard:EPHA10, HGNC:HGNC:19987, HumanCyc Gene:HS10971, ModBase:Q5JZY3, NCBI Gene:284656, OMIM:611123, RefSeq DNA:NT_032977, RefSeq Protein:NP_001092909, RefSeq Protein:NP_775912, RefSeq RNA:NM_001099439, RefSeq RNA:NM_173641, UniProtKB:Q4G0R4, UniProtKB:Q5JZY3, UniProtKB:Q8N289 No chr1 38181646 38230824 37713888 37765152 +PA27818 1969 HGNC:3386 ENSG00000142627 EPH receptor A2 EPHA2 ECK Yes No Comparative Toxicogenomics Database:1969, Ensembl:ENSG00000142627, GenAtlas:EPHA2, GeneCard:EPHA2, HGNC:HGNC:3386, HumanCyc Gene:HS06946, ModBase:P29317, NCBI Gene:1969, OMIM:176946, OMIM:613020, RefSeq DNA:NG_021396, RefSeq DNA:NT_004610, RefSeq Protein:NP_004422, RefSeq RNA:NM_004431, UCSC Genome Browser:NM_004431, UniProtKB:P29317 No chr1 16450832 16482582 16124337 16156104 +PA27819 2042 HGNC:3387 ENSG00000044524 EPH receptor A3 EPHA3 ETK, ETK1, HEK, HEK4, TYRO4 Yes No Comparative Toxicogenomics Database:2042, Ensembl:ENSG00000044524, GenAtlas:EPHA3, GeneCard:EPHA3, HGNC:HGNC:3387, HumanCyc Gene:HS00578, ModBase:P29320, NCBI Gene:2042, OMIM:179611, RefSeq DNA:NG_023239, RefSeq DNA:NT_022459, RefSeq Protein:NP_005224, RefSeq Protein:NP_872585, RefSeq RNA:NM_005233, RefSeq RNA:NM_182644, UCSC Genome Browser:NM_005233, UniProtKB:P29320, UniProtKB:Q6P4R6 No chr3 89156674 89531284 89107524 89482134 +PA27820 2043 HGNC:3388 ENSG00000116106 EPH receptor A4 EPHA4 Hek8, TYRO1 Yes No Comparative Toxicogenomics Database:2043, Ensembl:ENSG00000116106, GenAtlas:EPHA4, GeneCard:EPHA4, HGNC:HGNC:3388, HumanCyc Gene:HS03980, ModBase:P54764, NCBI Gene:2043, OMIM:602188, RefSeq DNA:NT_005403, RefSeq Protein:NP_004429, RefSeq RNA:NM_004438, UCSC Genome Browser:NM_004438, UniProtKB:P54764, UniProtKB:Q58F15 No chr2 222282747 222437010 221418027 221574202 +PA27821 2044 HGNC:3389 ENSG00000145242 EPH receptor A5 EPHA5 CEK7, EHK1, Hek7, TYRO4 Yes Yes Comparative Toxicogenomics Database:2044, Ensembl:ENSG00000145242, GenAtlas:EPHA5, GeneCard:EPHA5, HGNC:HGNC:3389, HumanCyc Gene:HS07237, NCBI Gene:2044, OMIM:600004, RefSeq DNA:NT_022778, RefSeq Protein:NP_004430, RefSeq Protein:NP_872272, RefSeq RNA:NM_004439, RefSeq RNA:NM_182472, UCSC Genome Browser:NM_004439, UniProtKB:P54756 No chr4 66185281 66536529 65319563 65670838 +PA134866684 285220 HGNC:19296 ENSG00000080224 EPH receptor A6 EPHA6 FLJ35246 Yes Yes Comparative Toxicogenomics Database:285220, Ensembl:ENSG00000080224, GeneCard:EPHA6, HGNC:HGNC:19296, HumanCyc Gene:HS01350, ModBase:Q9UF33, NCBI Gene:285220, OMIM:600066, RefSeq DNA:NT_005612, RefSeq Protein:NP_001073917, RefSeq Protein:NP_775926, RefSeq RNA:NM_001080448, RefSeq RNA:NM_173655, UniProtKB:B3KS12, UniProtKB:Q9UF33 No chr3 96533425 97467786 96814581 97761532 +PA27822 2045 HGNC:3390 ENSG00000135333 EPH receptor A7 EPHA7 Hek11 Yes Yes Comparative Toxicogenomics Database:2045, Ensembl:ENSG00000135333, GenAtlas:EPHA7, GeneCard:EPHA7, HGNC:HGNC:3390, HumanCyc Gene:HS05982, ModBase:Q15375, NCBI Gene:2045, OMIM:602190, RefSeq DNA:NT_007299, RefSeq Protein:NP_004431, RefSeq RNA:NM_004440, UCSC Genome Browser:NM_004440, UniProtKB:Q15375 No chr6 93949738 94129302 93240020 93419687 +PA27823 2046 HGNC:3391 ENSG00000070886 EPH receptor A8 EPHA8 EEK, Hek3 Yes Yes Comparative Toxicogenomics Database:2046, Ensembl:ENSG00000070886, GenAtlas:EPHA8, GeneCard:EPHA8, HGNC:HGNC:3391, HumanCyc Gene:HS01017, ModBase:P29322, NCBI Gene:2046, OMIM:176945, RefSeq DNA:NT_004610, RefSeq Protein:NP_001006944, RefSeq Protein:NP_065387, RefSeq RNA:NM_001006943, RefSeq RNA:NM_020526, UCSC Genome Browser:NM_020526, UniProtKB:P29322, UniProtKB:Q8IUX6 No chr1 22890004 22930087 22563508 22603594 +PA27824 2047 HGNC:3392 ENSG00000154928 EPH receptor B1 EPHB1 EPHT2, Hek6 Yes No Ensembl:ENSG00000154928, GenAtlas:EPHB1, GeneCard:EPHB1, HGNC:HGNC:3392, HumanCyc Gene:HS00010, ModBase:P54762, NCBI Gene:2047, OMIM:600600, RefSeq DNA:NT_005612, RefSeq Protein:NP_004432, RefSeq RNA:NM_004441, UCSC Genome Browser:NM_004441, UniProtKB:P54762 No chr3 134514099 134979309 134776089 135260467 +PA27825 2048 HGNC:3393 ENSG00000133216 EPH receptor B2 EPHB2 DRT, EPHT3, ERK, Hek5, Tyro5 Yes No Comparative Toxicogenomics Database:2048, Ensembl:ENSG00000133216, GenAtlas:EPHB2, GeneCard:EPHB2, HGNC:HGNC:3393, HumanCyc Gene:HS05749, ModBase:P29323, NCBI Gene:2048, OMIM:600997, OMIM:603688, RefSeq DNA:NG_011804, RefSeq DNA:NT_004610, RefSeq Protein:NP_004433, RefSeq Protein:NP_059145, RefSeq RNA:NM_004442, RefSeq RNA:NM_017449, UCSC Genome Browser:NM_004442, UniProtKB:P29323 No chr1 23037263 23241823 22710770 22921500 +PA27826 2049 HGNC:3394 ENSG00000182580 EPH receptor B3 EPHB3 ETK2, Hek2, Tyro6 Yes No Comparative Toxicogenomics Database:2049, Ensembl:ENSG00000182580, GenAtlas:EPHB3, GeneCard:EPHB3, HGNC:HGNC:3394, HumanCyc Gene:HS00011, ModBase:P54753, NCBI Gene:2049, OMIM:601839, RefSeq DNA:NT_005612, RefSeq Protein:NP_004434, RefSeq RNA:NM_004443, UCSC Genome Browser:NM_004443, UniProtKB:P54753 No chr3 184279587 184300196 184561799 184582408 +PA27827 2050 HGNC:3395 ENSG00000196411 EPH receptor B4 EPHB4 HTK, Tyro11 Yes No Comparative Toxicogenomics Database:2050, Ensembl:ENSG00000196411, GenAtlas:EPHB4, GeneCard:EPHB4, HGNC:HGNC:3395, HumanCyc Gene:HS02886, ModBase:P54760, NCBI Gene:2050, OMIM:600011, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_004435, RefSeq RNA:NM_004444, UCSC Genome Browser:NM_004444, UniProtKB:P54760, UniProtKB:Q541P7, UniProtKB:Q7Z635, UniProtKB:Q96L35 No chr7 100400187 100425143 100802565 100827521 +PA27828 2051 HGNC:3396 ENSG00000106123 EPH receptor B6 EPHB6 HEP Yes No Comparative Toxicogenomics Database:2051, Ensembl:ENSG00000106123, GenAtlas:EPHB6, GeneCard:EPHB6, HGNC:HGNC:3396, HumanCyc Gene:HS02865, NCBI Gene:2051, OMIM:602757, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_004436, RefSeq RNA:NM_004445, UCSC Genome Browser:NM_004445, UniProtKB:O15197 No chr7 142552776 142568847 142854640 142871093 +PA27829 2052 HGNC:3401 ENSG00000143819 epoxide hydrolase 1 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) EPHX Yes Yes Comparative Toxicogenomics Database:2052, Ensembl:ENSG00000143819, GenAtlas:EPHX1, GeneCard:EPHX1, HGNC:HGNC:3401, HumanCyc Gene:HS07112, ModBase:Q9NQV0, NCBI Gene:2052, OMIM:132810, OMIM:189800, RefSeq DNA:NG_009776, RefSeq DNA:NT_167186, RefSeq Protein:NP_000111, RefSeq Protein:NP_001129490, RefSeq RNA:NM_000120, RefSeq RNA:NM_001136018, UCSC Genome Browser:NM_000120, UniProtKB:B2R8N0, UniProtKB:P07099 No chr1 225997797 226033264 225810074 225845563 +PA27830 2053 HGNC:3402 ENSG00000120915 epoxide hydrolase 2 EPHX2 """bifunctional epoxide hydrolase"", ""epoxide hydrolase 2, cytoplasmic"", ""soluble epoxide hydrolase""" ABHD20, sEH Yes Yes Comparative Toxicogenomics Database:2053, Ensembl:ENSG00000120915, GenAtlas:EPHX2, GeneCard:EPHX2, HGNC:HGNC:3402, HumanCyc Gene:HS04452, ModBase:P34913, NCBI Gene:2053, OMIM:132811, OMIM:143890, RefSeq DNA:NG_012064, RefSeq DNA:NT_167187, RefSeq Protein:NP_001970, RefSeq RNA:NM_001979, UCSC Genome Browser:NM_001979, UniProtKB:P34913 No chr8 27348519 27402439 27491002 27597559 +PA164719188 79852 HGNC:23760 ENSG00000105131 epoxide hydrolase 3 EPHX3 ABHD9, FLJ22408 Yes No Ensembl:ENSG00000105131, GeneCard:EPHX3, HGNC:HGNC:23760, HumanCyc Gene:HS11902, NCBI Gene:79852, RefSeq DNA:NT_011295, RefSeq Protein:NP_001136358, RefSeq Protein:NP_079070, RefSeq RNA:NM_001142886, RefSeq RNA:NM_024794, UniProtKB:Q9H6B9 No chr19 15337730 15343858 15226919 15233047 +PA164719207 253152 HGNC:23758 ENSG00000172031 epoxide hydrolase 4 EPHX4 ABHD7, EH4, EPHXRP, FLJ90341 Yes No Ensembl:ENSG00000172031, GeneCard:EPHX4, HGNC:HGNC:23758, HumanCyc Gene:HS11908, NCBI Gene:253152, RefSeq DNA:NT_032977, RefSeq Protein:NP_775838, RefSeq RNA:NM_173567, UniProtKB:Q8IUS5 No chr1 92495533 92529093 92029976 92063536 +PA27832 7957 HGNC:3413 ENSG00000112425 EPM2A glucan phosphatase, laforin EPM2A """EPM2A, laforin glucan phosphatase"", ""epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)""" LD, LDE Yes Yes Comparative Toxicogenomics Database:7957, Ensembl:ENSG00000112425, GenAtlas:EPM2A, GeneCard:EPM2A, HGNC:HGNC:3413, HumanCyc Gene:HS03569, ModBase:O95278, NCBI Gene:7957, OMIM:254780, OMIM:607566, RefSeq DNA:NG_012832, RefSeq DNA:NT_025741, RefSeq Protein:NP_001018051, RefSeq Protein:NP_005661, RefSeq RNA:NM_001018041, RefSeq RNA:NM_005670, UCSC Genome Browser:NM_005670, UniProtKB:O95278, UniProtKB:Q6IS15 No chr6 145946440 146057128 145500744 145736018 +PA134917440 9852 HGNC:19735 ENSG00000178567 EPM2A interacting protein 1 EPM2AIP1 EPM2A (laforin) interacting protein 1, laforin interacting protein 1 FLJ11207, KIAA0766 Yes Yes Comparative Toxicogenomics Database:9852, Ensembl:ENSG00000178567, GeneCard:EPM2AIP1, HGNC:HGNC:19735, HumanCyc Gene:HS17080, ModBase:Q7L775, NCBI Gene:9852, OMIM:607911, RefSeq DNA:NG_008418, RefSeq DNA:NT_022517, RefSeq Protein:NP_055620, RefSeq RNA:NM_014805, UniProtKB:Q7L775 No chr3 37027357 37034795 36985866 36993304 +PA134860916 29924 HGNC:21604 ENSG00000063245 epsin 1 EPN1 Yes No Comparative Toxicogenomics Database:29924, Ensembl:ENSG00000063245, GeneCard:EPN1, HGNC:HGNC:21604, HumanCyc Gene:HS00781, ModBase:Q9Y6I3, NCBI Gene:29924, OMIM:607262, RefSeq DNA:NT_011109, RefSeq Protein:NP_001123543, RefSeq Protein:NP_001123544, RefSeq Protein:NP_037465, RefSeq RNA:NM_001130071, RefSeq RNA:NM_001130072, RefSeq RNA:NM_013333, UniProtKB:Q9Y6I3 No chr19 56186561 56207141 55675195 55695767 +PA38615 22905 HGNC:18639 ENSG00000072134 epsin 2 EPN2 Eps15 binding protein EHB21, KIAA1065 Yes No Comparative Toxicogenomics Database:22905, Ensembl:ENSG00000072134, GenAtlas:EPN2, GeneCard:EPN2, HGNC:HGNC:18639, HumanCyc Gene:HS12216, ModBase:O95208, NCBI Gene:22905, OMIM:607263, RefSeq DNA:NT_010718, RefSeq Protein:NP_001096134, RefSeq Protein:NP_055779, RefSeq Protein:NP_683723, RefSeq RNA:NM_001102664, RefSeq RNA:NM_014964, RefSeq RNA:NM_148921, UCSC Genome Browser:NM_014964, UniProtKB:A8MTV8, UniProtKB:B3KRX8, UniProtKB:O95208, UniProtKB:Q52LD0 No chr17 19140690 19240028 19237377 19336715 +PA38513 55040 HGNC:18235 ENSG00000049283 epsin 3 EPN3 FLJ20778, MGC129899 Yes No Comparative Toxicogenomics Database:55040, Ensembl:ENSG00000049283, GenAtlas:EPN3, GeneCard:EPN3, HGNC:HGNC:18235, HumanCyc Gene:HS12116, ModBase:Q9H201, NCBI Gene:55040, OMIM:607264, RefSeq DNA:NT_010783, RefSeq Protein:NP_060427, RefSeq RNA:NM_017957, UCSC Genome Browser:NM_017957, UniProtKB:Q9H201 No chr17 48610043 48621111 50532687 50543750 +PA27833 2056 HGNC:3415 ENSG00000130427 erythropoietin EPO EP Yes Yes Comparative Toxicogenomics Database:2056, Ensembl:ENSG00000130427, GenAtlas:EPO, GeneCard:EPO, HGNC:HGNC:3415, HumanCyc Gene:HS05386, ModBase:P01588, NCBI Gene:2056, OMIM:133170, OMIM:612623, RefSeq DNA:NG_021471, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000790, RefSeq RNA:NM_000799, UCSC Genome Browser:NM_000799, UniProtKB:P01588 No chr7 100318423 100321323 100720800 100723700 +PA162378581 100170841 HGNC:34493 ENSG00000273604 elongin BC and polycomb repressive complex 2 associated protein EPOP chromosome 17 open reading frame 96, proline rich 28 C17orf96, LOC100170841, PRR28 Yes No Ensembl:ENSG00000273604, GeneCard:C17orf96, HGNC:HGNC:34493, NCBI Gene:100170841, RefSeq DNA:NT_010783, RefSeq Protein:NP_001124149, RefSeq RNA:NM_001130677, UniProtKB:A6NHQ4 No chr17 36827956 36831187 38671703 38674934 +PA27834 2057 HGNC:3416 ENSG00000187266 erythropoietin receptor EPOR EPO-R Yes No Comparative Toxicogenomics Database:2057, Ensembl:ENSG00000187266, GenAtlas:EPOR, GeneCard:EPOR, HGNC:HGNC:3416, HumanCyc Gene:HS02757, ModBase:P19235, NCBI Gene:2057, OMIM:133100, OMIM:133171, RefSeq DNA:NG_021395, RefSeq DNA:NT_011295, RefSeq Protein:NP_000112, RefSeq RNA:NM_000121, RefSeq RNA:NR_033663, UCSC Genome Browser:NM_000121, UniProtKB:P19235 No chr19 11487881 11495018 11377205 11384342 +PA38054 57119 HGNC:15932 ENSG00000101448 epididymal peptidase inhibitor EPPIN cancer/testis antigen 72, epididymal protease inhibitor CT71, CT72, EPPIN1, EPPIN2, EPPIN3, SPINLW1, WAP7, WFDC7, dJ461P17.2 Yes No Ensembl:ENSG00000101448, GenAtlas:SPINLW1, GeneCard:SPINLW1, HGNC:HGNC:15932, HumanCyc Gene:HS02276, ModBase:O95925, NCBI Gene:57119, OMIM:609031, RefSeq DNA:NT_011362, RefSeq Protein:NP_065131, RefSeq Protein:NP_852479, RefSeq RNA:NM_020398, RefSeq RNA:NM_181502, UCSC Genome Browser:NM_020398, UniProtKB:O95925 No chr20 44169265 44176516 45540626 45547426 +PA27835 83481 HGNC:15577 ENSG00000261150 epiplakin 1 EPPK1 epidermal autoantigen 450K EPIPL1 Yes No Comparative Toxicogenomics Database:83481, Ensembl:ENSG00000261150, GenAtlas:EPPK1, GeneCard:EPPK1, HGNC:HGNC:15577, ModBase:P58107, NCBI Gene:83481, OMIM:607553, RefSeq DNA:NT_008046, RefSeq Protein:NP_112598, RefSeq RNA:NM_031308, UCSC Genome Browser:NM_031308, UniProtKB:P58107 No chr8 144939492 144952632 143857319 143879043 +PA27837 2058 HGNC:3418 glutamyl-prolyl-tRNA synthetase 1 EPRS1 glutamate tRNA ligase, glutamyl-prolyl-tRNA synthetase, proline tRNA ligase EARS, EPRS, GLUPRORS, PARS, QARS, QPRS Yes No Comparative Toxicogenomics Database:2058, GenAtlas:EPRS, GeneCard:EPRS, HGNC:HGNC:3418, HumanCyc Gene:HS06187, NCBI Gene:2058, OMIM:138295, RefSeq DNA:NT_167186, RefSeq Protein:NP_004437, RefSeq RNA:NM_004446, UCSC Genome Browser:NM_004446, UniProtKB:P07814 No chr1 220141940 220220000 219968600 220046658 +PA27838 2060 HGNC:3419 ENSG00000085832 epidermal growth factor receptor pathway substrate 15 EPS15 AF-1P, MLLT5 Yes No Comparative Toxicogenomics Database:2060, Ensembl:ENSG00000085832, GenAtlas:EPS15, GeneCard:EPS15, HGNC:HGNC:3419, HumanCyc Gene:HS01510, ModBase:P42566, NCBI Gene:2060, OMIM:600051, RefSeq DNA:NT_032977, RefSeq Protein:NP_001153441, RefSeq Protein:NP_001972, RefSeq RNA:NM_001159969, RefSeq RNA:NM_001981, UCSC Genome Browser:NM_001981, UniProtKB:B7Z240, UniProtKB:P42566 No chr1 51819935 51985026 51354263 51519354 +PA134906266 58513 HGNC:24634 ENSG00000127527 epidermal growth factor receptor pathway substrate 15 like 1 EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 eps15R Yes No Comparative Toxicogenomics Database:58513, Ensembl:ENSG00000127527, GeneCard:EPS15L1, HGNC:HGNC:24634, HumanCyc Gene:HS05106, ModBase:Q9UBC2, NCBI Gene:58513, RefSeq DNA:NT_011295, RefSeq Protein:NP_067058, RefSeq RNA:NM_021235, UniProtKB:Q9UBC2 No chr19 16466055 16582823 16355244 16472012 +PA134865243 55380 HGNC:18166 ENSG00000242948 epidermal growth factor receptor pathway substrate 15 pseudogene 1 EPS15P1 PRO1866 Yes No Ensembl:ENSG00000242948, GeneCard:EPS15P1, HGNC:HGNC:18166, NCBI Gene:55380, RefSeq DNA:NG_008280, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 46821488 46823118 46781890 46783520 +PA27839 2059 HGNC:3420 ENSG00000151491 EGFR pathway substrate 8, signaling adaptor EPS8 epidermal growth factor receptor pathway substrate 8 Yes No Comparative Toxicogenomics Database:2059, Ensembl:ENSG00000151491, GenAtlas:EPS8, GeneCard:EPS8, HGNC:HGNC:3420, HumanCyc Gene:HS07741, ModBase:Q12929, NCBI Gene:2059, OMIM:600206, RefSeq DNA:NT_009714, RefSeq Protein:NP_004438, RefSeq RNA:NM_004447, UCSC Genome Browser:NM_004447, UniProtKB:B4E3T6, UniProtKB:Q12929 No chr12 15773075 15942510 15620141 15789576 +PA134990326 54869 HGNC:21295 ENSG00000131037 EPS8 signaling adaptor L1 EPS8L1 EPS8 like 1, EPS8-like 1, Epidermal growth factor receptor kinase substrate 8-like protein 1, down-regulated in esophageal cancer cDNA 3 DRC3, FLJ20258, MGC23164, MGC4642 Yes No Ensembl:ENSG00000131037, GeneCard:EPS8L1, HGNC:HGNC:21295, HumanCyc Gene:HS05474, ModBase:Q8TE68, NCBI Gene:54869, RefSeq DNA:NT_011109, RefSeq Protein:NP_060199, RefSeq Protein:NP_573441, RefSeq RNA:NM_017729, RefSeq RNA:NM_133180, UniProtKB:Q8TE68 No chr19 55587221 55599291 55075853 55087923 +PA134981048 64787 HGNC:21296 ENSG00000177106 EPS8 signaling adaptor L2 EPS8L2 EPS8 like 2, EPS8-like 2, Epidermal growth factor receptor kinase substrate 8-like protein 2 FLJ21935, FLJ22171, MGC3088 Yes No Ensembl:ENSG00000177106, GeneCard:EPS8L2, HGNC:HGNC:21296, HumanCyc Gene:HS11126, ModBase:Q9H6S3, NCBI Gene:64787, RefSeq DNA:NT_009237, RefSeq Protein:NP_073609, RefSeq RNA:NM_022772, UniProtKB:Q9H6S3 No chr11 706120 727727 705217 727727 +PA134940846 79574 HGNC:21297 ENSG00000198758 EPS8 signaling adaptor L3 EPS8L3 EPS8 like 3, EPS8-like 3, Epidermal growth factor receptor kinase substrate 8-like protein 3 FLJ21522, MGC16817 Yes No Comparative Toxicogenomics Database:79574, Ensembl:ENSG00000198758, GeneCard:EPS8L3, HGNC:HGNC:21297, ModBase:Q8TE67, NCBI Gene:79574, RefSeq DNA:NT_032977, RefSeq Protein:NP_078802, RefSeq Protein:NP_573444, RefSeq Protein:NP_620641, RefSeq RNA:NM_024526, RefSeq RNA:NM_133181, RefSeq RNA:NM_139053, UniProtKB:Q8TE67 No chr1 110292702 110306644 109750080 109764022 +PA27840 94240 HGNC:16465 ENSG00000133106 epithelial stromal interaction 1 EPSTI1 epithelial stromal interaction 1 (breast), epithelial stromal interaction protein 1 BRESI1, MGC29634 Yes No Ensembl:ENSG00000133106, GenAtlas:EPSTI1, GeneCard:EPSTI1, HGNC:HGNC:16465, HumanCyc Gene:HS13461, NCBI Gene:94240, OMIM:607441, RefSeq DNA:NT_024524, RefSeq Protein:NP_001002264, RefSeq Protein:NP_150280, RefSeq RNA:NM_001002264, RefSeq RNA:NM_033255, UCSC Genome Browser:NM_033255, UniProtKB:Q96J88 No chr13 43460524 43566407 42886388 42992271 +PA27841 8288 HGNC:3423 ENSG00000121053 eosinophil peroxidase EPX EPO, EPP, EPX-PEN Yes No Comparative Toxicogenomics Database:8288, Ensembl:ENSG00000121053, GenAtlas:EPX, GeneCard:EPX, HGNC:HGNC:3423, HumanCyc Gene:HS04462, ModBase:P11678, NCBI Gene:8288, OMIM:131399, OMIM:261500, RefSeq DNA:NG_013020, RefSeq DNA:NT_010783, RefSeq Protein:NP_000493, RefSeq RNA:NM_000502, UCSC Genome Browser:NM_000502, UniProtKB:P11678 No chr17 56270089 56282535 58192724 58205174 +PA162385144 1833 HGNC:3053 ENSG00000083782 epiphycan EPYC epiphycan proteoglycan DSPG3, Pg-Lb, SLRR3B Yes No Ensembl:ENSG00000083782, GeneCard:EPYC, HGNC:HGNC:3053, HumanCyc Gene:HS01449, ModBase:Q99645, NCBI Gene:1833, OMIM:601657, RefSeq DNA:NT_029419, RefSeq Protein:NP_004941, RefSeq RNA:NM_004950, UniProtKB:Q99645 No chr12 91357456 91398803 90963679 91005026 +PA25969 54586 HGNC:1359 ENSG00000120160 equatorin EQTN """Acr formation associated factor"", ""Acrosome formation associated factor"", ""equatorin, sperm acrosome associated"", ""sperm acrosome associated 8""" AFAF, C9orf11, SPACA8, equatorin Yes No Ensembl:ENSG00000120160, GenAtlas:C9orf11, GeneCard:C9orf11, HGNC:HGNC:1359, HumanCyc Gene:HS12978, NCBI Gene:54586, RefSeq DNA:NT_008413, RefSeq Protein:NP_001155057, RefSeq Protein:NP_065692, RefSeq RNA:NM_001161585, RefSeq RNA:NM_020641, UniProtKB:Q9NQ60 No chr9 27284652 27297137 27284654 27297139 +PA27843 26284 HGNC:3424 ENSG00000132591 Era like 12S mitochondrial rRNA chaperone 1 ERAL1 Era G-protein-like 1 (E. coli), Era-like 12S mitochondrial rRNA chaperone 1 HERA-B Yes No Ensembl:ENSG00000132591, GenAtlas:ERAL1, GeneCard:ERAL1, HGNC:HGNC:3424, HumanCyc Gene:HS05659, ModBase:O75616, NCBI Gene:26284, OMIM:607435, RefSeq DNA:NT_010799, RefSeq Protein:NP_005693, RefSeq RNA:NM_005702, UCSC Genome Browser:NM_005702, UniProtKB:O75616 No chr17 27182043 27188072 28854957 28861067 +PA162385163 51752 HGNC:18173 ENSG00000164307 endoplasmic reticulum aminopeptidase 1 ERAP1 adipocyte-derived leucine aminopeptidase, aminopeptidase regulator of TNFR1 shedding, puromycin-insensitive leucyl-specific aminopeptidase A-LAP, ARTS-1, ERAAP1, KIAA0525, PILS-AP Yes Yes Ensembl:ENSG00000164307, GeneCard:ERAP1, HGNC:HGNC:18173, HumanCyc Gene:HS09059, ModBase:Q9NZ08, NCBI Gene:51752, OMIM:606832, RefSeq DNA:NT_034772, RefSeq Protein:NP_001035548, RefSeq Protein:NP_001185470, RefSeq Protein:NP_057526, RefSeq RNA:NM_001040458, RefSeq RNA:NM_001198541, RefSeq RNA:NM_016442, UniProtKB:Q9NZ08 No chr5 96096514 96149848 96759245 96935983 +PA162385208 64167 HGNC:29499 ENSG00000164308 endoplasmic reticulum aminopeptidase 2 ERAP2 leukocyte-derived arginine aminopeptidase L-RAP, LRAP Yes Yes Ensembl:ENSG00000164308, GeneCard:ERAP2, HGNC:HGNC:29499, HumanCyc Gene:HS09060, ModBase:Q6P179, NCBI Gene:64167, OMIM:609497, RefSeq DNA:NT_034772, RefSeq Protein:NP_001123612, RefSeq Protein:NP_071745, RefSeq RNA:NM_001130140, RefSeq RNA:NM_022350, UniProtKB:B2R769, UniProtKB:Q6P179 No chr5 96211644 96255420 96875940 96919703 +PA29448 3266 HGNC:5174 ENSG00000187682 ES cell expressed Ras ERAS HRAS2, HRASP Yes No Ensembl:ENSG00000187682, GeneCard:ERAS, HGNC:HGNC:5174, ModBase:Q7Z444, NCBI Gene:3266, OMIM:300437, RefSeq DNA:NT_079573, RefSeq Protein:NP_853510, RefSeq RNA:NM_181532, UCSC Genome Browser:NM_181532, UniProtKB:Q7Z444 No chrX 48684923 48688279 48826513 48829869 +PA27844 2064 HGNC:3430 ENSG00000141736 erb-b2 receptor tyrosine kinase 2 ERBB2 """human epidermal growth factor receptor 2"", ""metastatic lymph node gene 19"", ""neuro/glioblastoma derived oncogene homolog"", ""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2"", ""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)""" CD340, HER-2, HER2, MLN-19, NEU, NGL, c-ERB-2, c-ERB2, p185(erbB2) Yes Yes Comparative Toxicogenomics Database:2064, Ensembl:ENSG00000141736, GenAtlas:ERBB2, GeneCard:ERBB2, HGNC:HGNC:3430, HumanCyc Gene:HS06866, ModBase:P04626, NCBI Gene:2064, OMIM:137215, OMIM:137800, OMIM:164870, OMIM:211980, RefSeq DNA:NG_007503, RefSeq DNA:NT_010783, RefSeq Protein:NP_001005862, RefSeq Protein:NP_004439, RefSeq RNA:NM_001005862, RefSeq RNA:NM_004448, UCSC Genome Browser:NM_004448, UniProtKB:P04626 No chr17 37844167 37884915 39688084 39728662 +PA27846 2065 HGNC:3431 ENSG00000065361 erb-b2 receptor tyrosine kinase 3 ERBB3 human epidermal growth factor receptor 3, v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3, v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) HER3, LCCS2 Yes Yes Comparative Toxicogenomics Database:2065, Ensembl:ENSG00000065361, GenAtlas:ERBB3, GeneCard:ERBB3, HGNC:HGNC:3431, HumanCyc Gene:HS00838, ModBase:P21860, NCBI Gene:2065, OMIM:190151, OMIM:607598, RefSeq DNA:NG_011529, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005915, RefSeq Protein:NP_001973, RefSeq RNA:NM_001005915, RefSeq RNA:NM_001982, UCSC Genome Browser:NM_001982, UniProtKB:B3KWG5, UniProtKB:P21860 No chr12 56473809 56497291 56080025 56103507 +PA27847 2066 HGNC:3432 ENSG00000178568 erb-b2 receptor tyrosine kinase 4 ERBB4 human epidermal growth factor receptor 4, v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian), v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 ALS19, HER4 Yes Yes Comparative Toxicogenomics Database:2066, Ensembl:ENSG00000178568, GenAtlas:ERBB4, GeneCard:ERBB4, HGNC:HGNC:3432, ModBase:Q15303, NCBI Gene:2066, OMIM:600543, RefSeq DNA:NG_011805, RefSeq DNA:NT_005403, RefSeq Protein:NP_001036064, RefSeq Protein:NP_005226, RefSeq RNA:NM_001042599, RefSeq RNA:NM_005235, UCSC Genome Browser:NM_005235, UniProtKB:Q15303 No chr2 212240442 213403879 211375717 212539147 +PA27845 55914 HGNC:15842 ENSG00000112851 erbb2 interacting protein ERBIN ERBB2-interacting protein, densin-180-like protein ERBB2IP, ERBIN, LAP2 Yes No Comparative Toxicogenomics Database:55914, Ensembl:ENSG00000112851, GenAtlas:ERBB2IP, GeneCard:ERBB2IP, HGNC:HGNC:15842, HumanCyc Gene:HS03626, ModBase:Q96RT1, NCBI Gene:55914, OMIM:606944, RefSeq DNA:NT_006713, RefSeq Protein:NP_001006600, RefSeq Protein:NP_061165, RefSeq RNA:NM_001006600, RefSeq RNA:NM_018695, UCSC Genome Browser:NM_018695, UniProtKB:Q96RT1 No chr5 65222382 65376851 65926554 66081024 +PA134970875 23085 HGNC:17072 ENSG00000082805 ELKS/RAB6-interacting/CAST family member 1 ERC1 CAST2, ELKS, KIAA1081, MGC12974, RAB6IP2 Yes No Comparative Toxicogenomics Database:23085, Ensembl:ENSG00000082805, GeneCard:ERC1, HGNC:HGNC:17072, HumanCyc Gene:HS12272, ModBase:Q9UIK7, NCBI Gene:23085, OMIM:607127, RefSeq DNA:NT_009759, RefSeq Protein:NP_055879, RefSeq Protein:NP_829881, RefSeq Protein:NP_829882, RefSeq Protein:NP_829883, RefSeq Protein:NP_829884, RefSeq RNA:NM_015064, RefSeq RNA:NM_178037, RefSeq RNA:NM_178038, RefSeq RNA:NM_178039, RefSeq RNA:NM_178040, RefSeq RNA:NR_027946, RefSeq RNA:NR_027948, RefSeq RNA:NR_027949, UniProtKB:Q8IUD2 No chr12 1100404 1605099 990010 1495933 +PA162385249 26059 HGNC:31922 ENSG00000187672 ELKS/RAB6-interacting/CAST family member 2 ERC2 CAST, CAST1, ELKSL, KIAA0378, SPBC110, Spc110 Yes No Ensembl:ENSG00000187672, GeneCard:ERC2, HGNC:HGNC:31922, ModBase:O15083, NCBI Gene:26059, RefSeq DNA:NT_022517, RefSeq Protein:NP_056391, RefSeq RNA:NM_015576, UniProtKB:O15083 No chr3 55542336 56502391 55508311 56468473 +PA25600 711 HGNC:1229 ENSG00000281708 ERC2 intronic transcript 1 (non-protein coding) ERC2-IT1 Po42 Yes No Ensembl:ENSG00000281708, GenAtlas:C3orf51, GeneCard:C3orf51, HGNC:HGNC:1229, HumanCyc Gene:HS11261, NCBI Gene:711, RefSeq DNA:NT_022517, RefSeq RNA:NR_024615, UCSC Genome Browser:NM_001213 No chr3 55691234 55693497 55657206 55659469 +PA155 2067 HGNC:3433 ENSG00000012061 ERCC excision repair 1, endonuclease non-catalytic subunit ERCC1 """excision repair cross-complementation group 1"", ""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)""" RAD10 Yes Yes Comparative Toxicogenomics Database:2067, Ensembl:ENSG00000012061, GenAtlas:ERCC1, GeneCard:ERCC1, HGNC:HGNC:3433, HumanCyc Gene:HS00327, ModBase:P07992, NCBI Gene:2067, OMIM:126380, OMIM:610758, RefSeq DNA:NG_015839, RefSeq DNA:NT_011109, RefSeq Protein:NP_001159521, RefSeq Protein:NP_001974, RefSeq Protein:NP_973730, RefSeq RNA:NM_001166049, RefSeq RNA:NM_001983, RefSeq RNA:NM_202001, UCSC Genome Browser:NM_001983, UniProtKB:B2RC01, UniProtKB:P07992, UniProtKB:Q7Z7F5, UniProtKB:Q96S40 No chr19 45910591 45982241 45407333 45478866 +PA27848 2068 HGNC:3434 ENSG00000104884 ERCC excision repair 2, TFIIH core complex helicase subunit ERCC2 """TFIIH basal transcription factor complex helicase XPB subunit"", ""excision repair cross-complementation group 2"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein""" EM9, MAG, MGC102762, MGC126218, MGC126219, TFIIH, XPD Yes Yes Comparative Toxicogenomics Database:2068, Ensembl:ENSG00000104884, GenAtlas:ERCC2, GeneCard:ERCC2, HGNC:HGNC:3434, HumanCyc Gene:HS02642, ModBase:P18074, NCBI Gene:2068, OMIM:126340, OMIM:278730, OMIM:601675, OMIM:610756, RefSeq DNA:NG_007067, RefSeq DNA:NT_011109, RefSeq Protein:NP_000391, RefSeq Protein:NP_001124339, RefSeq RNA:NM_000400, RefSeq RNA:NM_001130867, UCSC Genome Browser:NM_000400, UniProtKB:P18074, UniProtKB:Q7KZU6 No chr19 45854649 45873845 45349837 45370647 +PA27849 2071 HGNC:3435 ENSG00000163161 ERCC excision repair 3, TFIIH core complex helicase subunit ERCC3 """excision repair cross-complementation group 3"", ""excision repair cross-complementing rodent repair deficiency, complementation group 3"", ""xeroderma pigmentosum group B complementing""" BTF2, GTF2H, RAD25, Ssl2, TFIIH, XPB Yes Yes Comparative Toxicogenomics Database:2071, Ensembl:ENSG00000163161, GenAtlas:ERCC3, GeneCard:ERCC3, HGNC:HGNC:3435, HumanCyc Gene:HS08797, ModBase:P19447, NCBI Gene:2071, OMIM:133510, OMIM:601675, OMIM:610651, RefSeq DNA:NG_007454, RefSeq DNA:NT_022135, RefSeq Protein:NP_000113, RefSeq RNA:NM_000122, UCSC Genome Browser:NM_000122, UniProtKB:P19447 No chr2 128014866 128051752 127257290 127294176 +PA27850 2072 HGNC:3436 ENSG00000175595 ERCC excision repair 4, endonuclease catalytic subunit ERCC4 """excision repair cross-complementation group 4"", ""excision repair cross-complementing rodent repair deficiency, complementation group 4"", ""xeroderma pigmentosum, complementation group F""" FANCQ, RAD1, XPF Yes Yes Comparative Toxicogenomics Database:2072, Ensembl:ENSG00000175595, GenAtlas:ERCC4, GeneCard:ERCC4, HGNC:HGNC:3436, HumanCyc Gene:HS10958, ModBase:Q92889, NCBI Gene:2072, OMIM:133520, OMIM:278760, OMIM:610965, RefSeq DNA:NG_011442, RefSeq DNA:NT_010393, RefSeq Protein:NP_005227, RefSeq RNA:NM_005236, UCSC Genome Browser:NM_005236, UniProtKB:Q92889 No chr16 14014014 14046205 13920138 13952348 +PA27851 2073 HGNC:3437 ENSG00000134899 ERCC excision repair 5, endonuclease ERCC5 """Cockayne syndrome"", ""excision repair cross-complementation group 5"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5""" ERCM2, XPGC Yes Yes Comparative Toxicogenomics Database:2073, Ensembl:ENSG00000134899, GenAtlas:ERCC5, GeneCard:ERCC5, HGNC:HGNC:3437, HumanCyc Gene:HS05927, ModBase:P28715, NCBI Gene:2073, OMIM:133530, OMIM:214150, OMIM:278780, RefSeq DNA:NG_007146, RefSeq DNA:NT_009952, RefSeq Protein:NP_000114, RefSeq RNA:NM_000123, UCSC Genome Browser:NM_000123, UniProtKB:P28715 No chr13 103498191 103528351 102845841 102876001 +PA27852 2074 HGNC:3438 ENSG00000225830 ERCC excision repair 6, chromatin remodeling factor ERCC6 """Cockayne syndrome B protein"", ""excision repair cross-complementation group 6"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6""" ARMD5, CKN2, CSB, RAD26 Yes No Comparative Toxicogenomics Database:2074, Ensembl:ENSG00000225830, GenAtlas:ERCC6, GeneCard:ERCC6, HGNC:HGNC:3438, ModBase:Q03468, NCBI Gene:2074, OMIM:133540, OMIM:211980, OMIM:214150, OMIM:278800, OMIM:600630, OMIM:609413, RefSeq DNA:NG_009442, RefSeq DNA:NT_030059, RefSeq Protein:NP_000115, RefSeq RNA:NM_000124, UCSC Genome Browser:NM_000124, UniProtKB:Q03468 No chr10 50662526 50747169 49454480 49539538 +PA162385290 54821 HGNC:20794 ENSG00000186871 ERCC excision repair 6 like, spindle assembly checkpoint helicase ERCC6L """PLK1-interacting checkpoint helicase"", ""excision repair cross-complementation group 6-like"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like""" FLJ20105, PICH, RAD26L Yes No Ensembl:ENSG00000186871, GeneCard:ERCC6L, HGNC:HGNC:20794, ModBase:Q2NKX8, NCBI Gene:54821, OMIM:300687, RefSeq DNA:NT_011669, RefSeq Protein:NP_060139, RefSeq RNA:NM_017669, UniProtKB:Q2NKX8 No chrX 71424507 71458877 72204657 72239008 +PA134961240 375748 HGNC:26922 ENSG00000182150 ERCC excision repair 6 like 2 ERCC6L2 """excision repair cross-complementation group 6-like 2"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2""" C9orf102, FLJ37706, HEBO, RAD26L Yes Yes Ensembl:ENSG00000182150, GeneCard:C9orf102, HGNC:HGNC:26922, ModBase:Q5T890, NCBI Gene:375748, RefSeq DNA:NT_008470, RefSeq Protein:NP_001010895, RefSeq RNA:NM_001010895, UniProtKB:Q5T890 No chr9 98637900 98731122 95875618 96041092 +PA27853 1161 HGNC:3439 ENSG00000049167 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ERCC8 """excision repair cross-complementation group 8"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8""" CKN1, CSA Yes No Comparative Toxicogenomics Database:1161, Ensembl:ENSG00000049167, GenAtlas:ERCC8, GeneCard:ERCC8, HGNC:HGNC:3439, HumanCyc Gene:HS00612, ModBase:Q13216, NCBI Gene:1161, OMIM:216400, OMIM:609412, RefSeq DNA:NG_009289, RefSeq DNA:NT_006713, RefSeq Protein:NP_000073, RefSeq RNA:NM_000082, UniProtKB:Q13216 No chr5 60169659 60240905 60873832 60945078 +PA27855 9030 HGNC:3442 expanded repeat domain, CAG/CTG 1 ERDA1 Yes No GenAtlas:ERDA1, GeneCard:ERDA1, HGNC:HGNC:3442, NCBI Gene:9030, OMIM:603279 No chr17 +PA27856 2069 HGNC:3443 ENSG00000124882 epiregulin EREG ER Yes Yes Comparative Toxicogenomics Database:2069, Ensembl:ENSG00000124882, GenAtlas:EREG, GeneCard:EREG, HGNC:HGNC:3443, HumanCyc Gene:HS04846, ModBase:O14944, NCBI Gene:2069, OMIM:602061, RefSeq DNA:NT_022778, RefSeq Protein:NP_001423, RefSeq RNA:NM_001432, UCSC Genome Browser:NM_001432, UniProtKB:B2RC66, UniProtKB:O14944 No chr4 75230860 75254477 74365143 74388760 +PA27857 2077 HGNC:3444 ENSG00000105722 ETS2 repressor factor ERF Ets2 repressor factor PE-2, PE2 Yes No Comparative Toxicogenomics Database:2077, Ensembl:ENSG00000105722, GenAtlas:ERF, GeneCard:ERF, HGNC:HGNC:3444, HumanCyc Gene:HS02805, ModBase:P50548, NCBI Gene:2077, OMIM:611888, RefSeq DNA:NT_011109, RefSeq Protein:NP_006485, RefSeq RNA:NM_006494, UCSC Genome Browser:NM_006494, UniProtKB:P50548 No chr19 42751717 42759309 42247561 42255164 +PA162386102 151176 HGNC:26727 ENSG00000178752 erythroferrone ERFE """family with sequence similarity 132, member B"", ""myonectin""" C1QTNF15, CTRP15, FAM132B, FLJ37034 Yes No Ensembl:ENSG00000178752, GeneCard:FAM132B, HGNC:HGNC:26727, HumanCyc Gene:HS17119, NCBI Gene:151176, RefSeq DNA:NT_005120, RefSeq Protein:XP_001130886, RefSeq Protein:XP_001714437, RefSeq RNA:XM_001130886, RefSeq RNA:XM_001714385 No chr2 239060579 239077516 238159008 238168890 +PA166352504 390937 HGNC:53894 ETS repressor factor like ERFL erfl1 Yes No HGNC:HGNC:53894, NCBI Gene:390937 No 0 0 0 0 +PA27858 2078 HGNC:3446 ENSG00000157554 ETS transcription factor ERG ERG ETS-related gene, TMPRSS2-ERG prostate cancer specific, transcriptional regulator ERG (transforming protein ERG), v-ets avian erythroblastosis virus E26 oncogene homolog, v-ets avian erythroblastosis virus E26 oncogene related, v-ets erythroblastosis virus E26 oncogene homolog (avian), v-ets erythroblastosis virus E26 oncogene like erg-3, p55 Yes No Comparative Toxicogenomics Database:2078, Ensembl:ENSG00000157554, GenAtlas:ERG, GeneCard:ERG, HGNC:HGNC:3446, HumanCyc Gene:HS08222, ModBase:P11308, NCBI Gene:2078, OMIM:165080, RefSeq DNA:NT_011512, RefSeq Protein:NP_001129626, RefSeq Protein:NP_001129627, RefSeq Protein:NP_004440, RefSeq Protein:NP_891548, RefSeq RNA:NM_001136154, RefSeq RNA:NM_001136155, RefSeq RNA:NM_004449, RefSeq RNA:NM_182918, UCSC Genome Browser:NM_004449, UniProtKB:B4DN83, UniProtKB:P11308 No chr21 39739183 40033704 38367261 38662045 +PA25513 11161 HGNC:1187 ENSG00000133935 ergosterol biosynthesis 28 homolog ERG28 chromosome 14 open reading frame 1 C14orf1, ERG28, NET51 Yes No Comparative Toxicogenomics Database:11161, Ensembl:ENSG00000133935, GenAtlas:C14orf1, GeneCard:C14orf1, HGNC:HGNC:1187, HumanCyc Gene:HS05796, NCBI Gene:11161, OMIM:604576, RefSeq DNA:NT_026437, RefSeq Protein:NP_009107, RefSeq RNA:NM_007176, UCSC Genome Browser:NM_007176, UniProtKB:Q6FII3, UniProtKB:Q86TW5, UniProtKB:Q9UKR5 No chr14 76117233 76127538 75650890 75661195 +PA143485456 57222 HGNC:29205 ENSG00000113719 endoplasmic reticulum-golgi intermediate compartment 1 ERGIC1 endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 ERGIC-32, ERGIC32, KIAA1181, NET24 Yes No Comparative Toxicogenomics Database:57222, Ensembl:ENSG00000113719, GeneCard:ERGIC1, HGNC:HGNC:29205, HumanCyc Gene:HS12803, ModBase:Q969X5, NCBI Gene:57222, RefSeq DNA:NT_023133, RefSeq Protein:NP_001026881, RefSeq RNA:NM_001031711, UniProtKB:Q969X5 No chr5 172261223 172379688 172834220 172952685 +PA143485457 51290 HGNC:30208 ENSG00000087502 ERGIC and golgi 2 ERGIC2 Erv41, PTX1 Yes No Comparative Toxicogenomics Database:51290, Ensembl:ENSG00000087502, GeneCard:ERGIC2, HGNC:HGNC:30208, HumanCyc Gene:HS12298, ModBase:Q96RQ1, NCBI Gene:51290, OMIM:612236, RefSeq DNA:NT_009714, RefSeq Protein:NP_057654, RefSeq RNA:NM_016570, UniProtKB:Q86TD3, UniProtKB:Q96RQ1 No chr12 29493579 29534143 29336544 29381234 +PA38050 51614 HGNC:15927 ENSG00000125991 ERGIC and golgi 3 ERGIC3 C20orf47, CGI-54, Erv46, NY-BR-84, PRO0989, SDBCAG84 Yes No Comparative Toxicogenomics Database:51614, Ensembl:ENSG00000125991, GenAtlas:ERGIC3, GeneCard:ERGIC3, HGNC:HGNC:15927, HumanCyc Gene:HS13192, ModBase:Q9Y282, NCBI Gene:51614, RefSeq DNA:NT_011362, RefSeq Protein:NP_057050, RefSeq Protein:NP_938408, RefSeq RNA:NM_015966, RefSeq RNA:NM_198398, UCSC Genome Browser:NM_015966, UniProtKB:A2TJK5, UniProtKB:Q9Y282 No chr20 34129778 34145405 35542029 35557634 +PA27859 2079 HGNC:3447 ENSG00000100632 ERH mRNA splicing and mitosis factor ERH """ERH, mRNA splicing and mitosis factor"", ""enhancer of rudimentary homolog (Drosophila)""" DROER Yes No Comparative Toxicogenomics Database:2079, Ensembl:ENSG00000100632, GenAtlas:ERH, GeneCard:ERH, HGNC:HGNC:3447, NCBI Gene:2079, OMIM:601191, RefSeq DNA:NT_026437, RefSeq Protein:NP_004441, RefSeq RNA:NM_004450, UCSC Genome Browser:NM_004450, UniProtKB:P84090 No chr14 69846840 69865021 69380123 69398304 +PA164719226 90459 HGNC:23994 ENSG00000104626 exoribonuclease 1 ERI1 enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans), exoribonuclease 1 3'HEXO, THEX1 Yes No Ensembl:ENSG00000104626, GeneCard:ERI1, HGNC:HGNC:23994, HumanCyc Gene:HS02597, ModBase:Q8IV48, NCBI Gene:90459, OMIM:608739, RefSeq DNA:NT_077531, RefSeq Protein:NP_699163, RefSeq RNA:NM_153332, UniProtKB:Q8IV48 No chr8 8860314 8890849 8892225 9100262 +PA164719245 112479 HGNC:30541 ENSG00000196678 ERI1 exoribonuclease family member 2 ERI2 """enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5""" EXOD1, KIAA1504, MGC16943, ZGRF5 Yes No Ensembl:ENSG00000196678, GeneCard:ERI2, HGNC:HGNC:30541, NCBI Gene:112479, RefSeq DNA:NT_010393, RefSeq Protein:NP_001136197, RefSeq Protein:NP_542394, RefSeq RNA:NM_001142725, RefSeq RNA:NM_080663, UniProtKB:A8K979 No chr16 20791515 20817798 20780193 20806473 +PA164719272 79033 HGNC:17276 ENSG00000117419 ERI1 exoribonuclease family member 3 ERI3 enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans), exoribonuclease 3 FLJ22943, PINT1, PRNPIP Yes No Ensembl:ENSG00000117419, GeneCard:ERI3, HGNC:HGNC:17276, HumanCyc Gene:HS04131, NCBI Gene:79033, OMIM:609917, RefSeq DNA:NT_032977, RefSeq Protein:NP_076971, RefSeq RNA:NM_024066, UniProtKB:O43414 No chr1 44686742 44821315 44221070 44355298 +PA142671903 157697 HGNC:27234 ENSG00000104714 glutamate rich 1 ERICH1 glutamate-rich 1 Yes No Comparative Toxicogenomics Database:157697, Ensembl:ENSG00000104714, GeneCard:ERICH1, HGNC:HGNC:27234, ModBase:Q86X53, NCBI Gene:157697, RefSeq DNA:NT_023736, RefSeq Protein:NP_997215, RefSeq RNA:NM_207332, UniProtKB:Q86X53 No chr8 606733 681226 614737 731239 +PA166049123 285141 HGNC:44395 ENSG00000204334 glutamate rich 2 ERICH2 glutamate-rich 2 Yes No Ensembl:ENSG00000204334, HGNC:HGNC:44395, NCBI Gene:285141 No chr2 171627528 171655481 170770042 170798971 +PA142672422 127254 HGNC:25346 ENSG00000178965 glutamate rich 3 ERICH3 chromosome 1 open reading frame 173, glutamate-rich 3 C1orf173, DKFZp547I048, RP11-653A5.1 Yes Yes Ensembl:ENSG00000178965, GeneCard:C1orf173, HGNC:HGNC:25346, NCBI Gene:127254, RefSeq DNA:NT_032977, RefSeq Protein:NP_001002912, RefSeq RNA:NM_001002912, UniProtKB:Q5RHP9 No chr1 75033795 75139422 74568111 74674343 +PA162378862 100170765 HGNC:34497 ENSG00000204978 glutamate rich 4 ERICH4 chromosome 19 open reading frame 69, glutamate-rich 4 C19orf69, LOC100170765 Yes No Ensembl:ENSG00000204978, GeneCard:C19orf69, HGNC:HGNC:34497, NCBI Gene:100170765, RefSeq DNA:NT_011109, RefSeq Protein:NP_001123986, RefSeq RNA:NM_001130514, UniProtKB:A6NGS2 No chr19 41949063 41950670 41442426 41444765 +PA142672366 203111 HGNC:26823 ENSG00000177459 glutamate rich 5 ERICH5 chromosome 8 open reading frame 47, glutamate-rich 5 C8orf47, FLJ39553 Yes No Ensembl:ENSG00000177459, GeneCard:C8orf47, HGNC:HGNC:26823, HumanCyc Gene:HS16860, NCBI Gene:203111, RefSeq DNA:NT_008046, RefSeq Protein:NP_001164277, RefSeq Protein:NP_775820, RefSeq RNA:NM_001170806, RefSeq RNA:NM_173549, UniProtKB:Q6P6B1 No chr8 99076750 99105838 98064522 98093610 +PA165697300 131831 HGNC:28602 ENSG00000163645 glutamate rich 6 ERICH6 """family with sequence similarity 194, member A"", ""glutamate-rich 6"", ""glutamate-rich 6A""" C3orf44, ERICH6A, FAM194A, MGC39662 Yes No Ensembl:ENSG00000163645, GeneCard:FAM194A, HGNC:HGNC:28602, HumanCyc Gene:HS15094, ModBase:Q7L0X2, NCBI Gene:131831, RefSeq DNA:NT_005612, RefSeq Protein:NP_689607, RefSeq RNA:NM_152394, UniProtKB:Q7L0X2 No chr3 150377672 150421786 150659885 150704563 +PA165505094 220081 HGNC:26523 ENSG00000165837 glutamate rich 6B ERICH6B """family with sequence similarity 194, member B"", ""glutamate-rich 6B""" FAM194B, FLJ32682 Yes No Ensembl:ENSG00000165837, GeneCard:FAM194B, HGNC:HGNC:26523, NCBI Gene:220081, RefSeq DNA:NT_024524, RefSeq Protein:NP_872348, RefSeq RNA:NM_182542, UniProtKB:Q5W0A0 No chr13 46115432 46189874 45541203 45615739 +PA165696636 27248 HGNC:25222 ENSG00000068912 endoplasmic reticulum lectin 1 ERLEC1 erlectin 1 C2orf30, CL25084, ERLECTIN, XTP3-B, XTP3TPB Yes No Ensembl:ENSG00000068912, GeneCard:ERLEC1, HGNC:HGNC:25222, HumanCyc Gene:HS12200, ModBase:Q96DZ1, NCBI Gene:27248, OMIM:611229, RefSeq DNA:NT_022184, RefSeq Protein:NP_001120869, RefSeq Protein:NP_001120870, RefSeq Protein:NP_056516, RefSeq RNA:NM_001127397, RefSeq RNA:NM_001127398, RefSeq RNA:NM_015701, UniProtKB:B5MC72, UniProtKB:Q96DZ1 No chr2 54014068 54045956 53786931 53826928 +PA162385299 10613 HGNC:16947 ENSG00000107566 ER lipid raft associated 1 ERLIN1 Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9 C10orf69, Erlin-1, KE04, SPFH1, SPG62 Yes No Comparative Toxicogenomics Database:10613, Ensembl:ENSG00000107566, GeneCard:ERLIN1, HGNC:HGNC:16947, NCBI Gene:10613, OMIM:611604, RefSeq DNA:NT_030059, RefSeq Protein:NP_001094096, RefSeq Protein:NP_006450, RefSeq RNA:NM_001100626, RefSeq RNA:NM_006459, UniProtKB:O75477 No chr10 101909847 101945814 100150090 100186057 +PA25961 11160 HGNC:1356 ENSG00000147475 ER lipid raft associated 2 ERLIN2 C8orf2, Erlin-2, NET32, SPFH2, SPG18 Yes No Comparative Toxicogenomics Database:11160, Ensembl:ENSG00000147475, GenAtlas:SPFH2, GeneCard:ERLIN2, GeneCard:SPFH2, HGNC:HGNC:1356, HumanCyc Gene:HS07439, NCBI Gene:11160, OMIM:611605, RefSeq DNA:NT_007995, RefSeq DNA:NT_167187, RefSeq Protein:NP_001003790, RefSeq Protein:NP_001003791, RefSeq Protein:NP_009106, RefSeq RNA:NM_001003790, RefSeq RNA:NM_001003791, RefSeq RNA:NM_007175, UCSC Genome Browser:NM_007175, UniProtKB:O94905 No chr8 37593743 37615319 37736579 37757801 +PA27860 114625 HGNC:15743 ENSG00000164010 erythroblast membrane associated protein (Scianna blood group) ERMAP erythroblast membrane-associated protein (Scianna blood group) BTN5, RD, SC Yes No Ensembl:ENSG00000164010, GenAtlas:ERMAP, GeneCard:ERMAP, HGNC:HGNC:15743, HumanCyc Gene:HS15137, ModBase:Q96PL5, NCBI Gene:114625, OMIM:111620, OMIM:111750, OMIM:609017, RefSeq DNA:NG_008749, RefSeq DNA:NT_032977, RefSeq Protein:NP_001017922, RefSeq Protein:NP_061008, RefSeq RNA:NM_001017922, RefSeq RNA:NM_018538, UCSC Genome Browser:NM_018538, UniProtKB:Q96PL5 No chr1 43282776 43310660 42817105 42844991 +PA134884522 55780 HGNC:21056 ENSG00000130023 ER membrane associated RNA degradation ERMARD ER membrane-associated RNA degradation, chromosome 6 open reading frame 70 C6orf70, FLJ11152, dJ266L20.3 Yes No Ensembl:ENSG00000130023, GeneCard:C6orf70, HGNC:HGNC:21056, ModBase:Q5T6L9, NCBI Gene:55780, RefSeq DNA:NT_025741, RefSeq Protein:NP_060811, RefSeq RNA:NM_018341, UniProtKB:Q5T6L9 No chr6 170151718 170181680 169751622 169781584 +PA162385355 57471 HGNC:29208 ENSG00000136541 ermin ERMN """ERMIN"", ""ermin, ERM-like protein"", ""juxtanodin""" JN, KIAA1189, ermin Yes No Ensembl:ENSG00000136541, GeneCard:ERMN, HGNC:HGNC:29208, ModBase:Q8TAM6, NCBI Gene:57471, OMIM:610072, RefSeq DNA:NT_005403, RefSeq Protein:NP_001009959, RefSeq Protein:NP_065762, RefSeq RNA:NM_001009959, RefSeq RNA:NM_020711, UniProtKB:Q8TAM6 No chr2 158175125 158184146 157318613 157327713 +PA162385366 79956 HGNC:23703 ENSG00000099219 endoplasmic reticulum metallopeptidase 1 ERMP1 Felix-ina FLJ23309, FXNA, KIAA1815 Yes No Ensembl:ENSG00000099219, GeneCard:ERMP1, HGNC:HGNC:23703, HumanCyc Gene:HS12365, ModBase:Q7Z2K6, NCBI Gene:79956, OMIM:611156, RefSeq DNA:NT_008413, RefSeq Protein:NP_079172, RefSeq RNA:NM_024896, UniProtKB:B3KSB1, UniProtKB:Q6ZMD3, UniProtKB:Q7Z2K6 No chr9 5784572 5833081 5764061 5867091 +PA27861 2081 HGNC:3449 ENSG00000178607 endoplasmic reticulum to nucleus signaling 1 ERN1 Serine/threonine-protein kinase/endoribonuclease IRE1, inositol-requiring enzyme 1 IRE1, IRE1P Yes No Comparative Toxicogenomics Database:2081, Ensembl:ENSG00000178607, GenAtlas:ERN1, GeneCard:ERN1, HGNC:HGNC:3449, ModBase:O75460, NCBI Gene:2081, OMIM:604033, RefSeq DNA:NT_010783, RefSeq Protein:NP_001424, RefSeq RNA:NM_001433, UCSC Genome Browser:NM_001433, UniProtKB:O75460 No chr17 62116502 62207502 64039142 64130819 +PA134889542 10595 HGNC:16942 ENSG00000134398 endoplasmic reticulum to nucleus signaling 2 ERN2 IRE1b Yes No Comparative Toxicogenomics Database:10595, Ensembl:ENSG00000134398, GeneCard:ERN2, HGNC:HGNC:16942, HumanCyc Gene:HS13528, NCBI Gene:10595, OMIM:604034, RefSeq DNA:NT_010393, RefSeq Protein:NP_150296, RefSeq RNA:NM_033266, UniProtKB:Q76MJ5 No chr16 23701625 23724821 23690304 23713500 +PA27862 30001 HGNC:13280 ENSG00000197930 endoplasmic reticulum oxidoreductase 1 alpha ERO1A ERO1-like (S. cerevisiae) ERO1-alpha, ERO1A, ERO1L, Ero1alpha Yes No Comparative Toxicogenomics Database:30001, Ensembl:ENSG00000197930, GenAtlas:ERO1L, GeneCard:ERO1L, HGNC:HGNC:13280, ModBase:Q96HE7, NCBI Gene:30001, RefSeq DNA:NT_026437, RefSeq Protein:NP_055399, RefSeq RNA:NM_014584, UCSC Genome Browser:NM_014584, UniProtKB:Q96HE7 No chr14 53108605 53162419 52639915 52695931 +PA134918597 56605 HGNC:14355 ENSG00000086619 endoplasmic reticulum oxidoreductase 1 beta ERO1B ERO1-like beta (S. cerevisiae) ERO1-L(beta), ERO1LB, Ero1beta Yes No Ensembl:ENSG00000086619, GeneCard:ERO1LB, HGNC:HGNC:14355, HumanCyc Gene:HS01538, ModBase:Q86YB8, NCBI Gene:56605, RefSeq DNA:NT_167186, RefSeq Protein:NP_063944, RefSeq RNA:NM_019891, UniProtKB:Q86YB8 No chr1 236378422 236445339 236215122 236282039 +PA162385401 121506 HGNC:26495 ENSG00000139055 endoplasmic reticulum protein 27 ERP27 protein disulfide isomerase family A, member 8 C12orf46, ERp27, FLJ32115, PDIA8 Yes No Ensembl:ENSG00000139055, GeneCard:ERP27, HGNC:HGNC:26495, HumanCyc Gene:HS06577, ModBase:Q96DN0, NCBI Gene:121506, OMIM:610642, RefSeq DNA:NT_009714, RefSeq Protein:NP_689534, RefSeq RNA:NM_152321, UniProtKB:Q96DN0 No chr12 15066961 15091463 14914027 14938549 +PA25509 10961 HGNC:13799 ENSG00000089248 endoplasmic reticulum protein 29 ERP29 protein disulfide isomerase family A, member 9 C12orf8, ERp28, ERp29, ERp31, PDI-DB, PDIA9 Yes No Comparative Toxicogenomics Database:10961, Ensembl:ENSG00000089248, GenAtlas:ERP29, GeneCard:ERP29, HGNC:HGNC:13799, HumanCyc Gene:HS01646, ModBase:P30040, NCBI Gene:10961, OMIM:602287, RefSeq DNA:NT_009775, RefSeq Protein:NP_001029197, RefSeq Protein:NP_006808, RefSeq RNA:NM_001034025, RefSeq RNA:NM_006817, UCSC Genome Browser:NM_006817, UniProtKB:C9J183, UniProtKB:P30040 No chr12 112451152 112461024 112013340 112023220 +PA164719295 23071 HGNC:18311 ENSG00000023318 endoplasmic reticulum protein 44 ERP44 protein disulfide isomerase family A, member 10 KIAA0573, PDIA10, TXNDC4 Yes No Ensembl:ENSG00000023318, GeneCard:ERP44, HGNC:HGNC:18311, HumanCyc Gene:HS00423, NCBI Gene:23071, OMIM:609170, RefSeq DNA:NT_008470, RefSeq Protein:NP_055866, RefSeq RNA:NM_015051, UniProtKB:Q9BS26 No chr9 102741461 102861330 99979179 100099052 +PA142671904 54206 HGNC:18185 ENSG00000116285 ERBB receptor feedback inhibitor 1 ERRFI1 GENE-33, MIG-6, RALT Yes No Comparative Toxicogenomics Database:54206, Ensembl:ENSG00000116285, GeneCard:ERRFI1, HGNC:HGNC:18185, HumanCyc Gene:HS04005, ModBase:Q9UJM3, NCBI Gene:54206, OMIM:608069, RefSeq DNA:NT_021937, RefSeq Protein:NP_061821, RefSeq RNA:NM_018948, UniProtKB:B3KTV8, UniProtKB:Q9UJM3 No chr1 8071779 8086393 8011719 8026333 +PA27866 2086 HGNC:3454 ENSG00000213462 endogenous retrovirus group 3 member 1, envelope ERV3-1 endogenous retrovirus group 3, member 1 ERV-R, ERV3, H-PLK, HERV-R, envR Yes No Ensembl:ENSG00000213462, GenAtlas:ERV3, GeneCard:ERV3, HGNC:HGNC:3454, ModBase:Q14264, NCBI Gene:2086, OMIM:131170, RefSeq DNA:NG_006928, RefSeq DNA:NT_005612, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001007254, RefSeq RNA:NM_001007253, UniProtKB:Q14264 No chr7 64450733 64467124 64990355 65006746 +PA27867 85314 HGNC:14602 ENSG00000267259 endogenous retrovirus group E, member 1 ERVE-1 HERV-E1, HERVE1 Yes No Ensembl:ENSG00000267259, GenAtlas:ERVE1, GeneCard:ERVE-1, HGNC:HGNC:14602, NCBI Gene:85314, OMIM:606601 No chr17 +PA166180610 405754 HGNC:33823 ENSG00000244476 endogenous retrovirus group FRD member 1, envelope ERVFRD-1 syncytin 2 ERVFRDE1, HERV-FRD, HERV-W/FRD, envFRD, syncytin-2 Yes No Ensembl:ENSG00000244476, HGNC:HGNC:33823, NCBI Gene:405754 No 0 0 0 0 +PA142672213 90625 HGNC:17216 ENSG00000233056 endogenous retrovirus group 48, member 1 ERVH48-1 Yes No Ensembl:ENSG00000233056, GeneCard:ERVH48-1, HGNC:HGNC:17216, NCBI Gene:90625 No chr21 +PA27870 60359 HGNC:13756 endogenous retrovirus group K, member 4 ERVK-4 HERV-K(I) Yes No GenAtlas:ERVK4, GeneCard:ERVK-4, HGNC:HGNC:13756, NCBI Gene:60359 No chr3 +PA27871 60358 HGNC:13757 endogenous retrovirus group K, member 5 ERVK-5 HERV-K(II) Yes No GenAtlas:ERVK5, GeneCard:ERVK-5, HGNC:HGNC:13757, ModBase:Q9HDB9, NCBI Gene:60358 No chr3 +PA27872 64006 HGNC:13915 endogenous retrovirus group K, member 6 ERVK-6 HERV-K (HML-2.HOM), HERV-K(C7) envelope protein, HERV-K108 envelope protein, HERV-K_7p22.1 provirus Rec protein, HERV-K_7p22.1 provirus ancestral Env polyprotein, HERV-K_7p22.1 provirus ancestral Pol protein, HERV-K_7p22.1 provirus ancestral Pro protein HERV-K(C7), HERV-K(HML-2.HOM), HERV-K108 Yes No GenAtlas:ERVK6, GeneCard:ERVK-6, HGNC:HGNC:13915, ModBase:Q7LDI9, ModBase:Q9BXR3, ModBase:Q9WJR5, ModBase:Q9Y6I0, NCBI Gene:64006, OMIM:605626, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001007237, RefSeq RNA:NM_001007236 No chr7 +PA134974353 449619 HGNC:31828 endogenous retrovirus group K, member 7 ERVK-7 HERV-K_1q22 provirus Np9 protein, HERV-K_1q22 provirus ancestral Env polyprotein, HERV-K_1q22 provirus ancestral Gag polyprotein, HERV-K_1q22 provirus ancestral Pol protein, HERV-K_1q22 provirus ancestral Pro protein HERV-K(III), HERV-K102 Yes No GeneCard:ERVK-7, HGNC:HGNC:31828, NCBI Gene:449619 No chr1 +PA142671905 619465 HGNC:32302 endogenous retrovirus group K, member 8 ERVK-8 HERV-K_8p23.1 provirus Rec protein, HERV-K_8p23.1 provirus ancestral Env polyprotein, HERV-K_8p23.1 provirus ancestral Gag polyprotein, HERV-K_8p23.1 provirus ancestral Pol protein, HERV-K_8p23.1 provirus ancestral Pro protein HERV-K115, envK6 Yes No GeneCard:ERVK-8, HGNC:HGNC:32302, NCBI Gene:619465 No chr8 +PA166180611 100288413 HGNC:42970 ENSG00000226887 endogenous retrovirus group MER34 member 1, envelope ERVMER34-1 HERV-MER_4q12 provirus ancestral Env polyprotein, Human Endogenous MEdium-Reiteration-frequency-family-34 ORF, endogenous retrovirus group MER34 member 1 Env polyprotein HEMO, envMER34 Yes No Ensembl:ENSG00000226887, HGNC:HGNC:42970, NCBI Gene:100288413 No 0 0 0 0 +PA142672483 339476 HGNC:27919 endogenous retrovirus group MER61, member 1 ERVMER61-1 Yes No GeneCard:ERVMER61-1, HGNC:HGNC:27919, NCBI Gene:339476, RefSeq DNA:NT_004487, RefSeq Protein:NP_001012274, RefSeq RNA:NM_001012274 No chr1 +PA166180612 147664 HGNC:26501 ENSG00000269526 endogenous retrovirus group V member 1, envelope ERVV-1 ENVV1, FLJ32214, HERV-V1 Yes No Ensembl:ENSG00000269526, HGNC:HGNC:26501, NCBI Gene:147664 No 0 0 0 0 +PA166180613 100271846 HGNC:39051 ENSG00000268964 endogenous retrovirus group V member 2, envelope ERVV-2 mac-syncytin-3 ENVV2 Yes No Ensembl:ENSG00000268964, HGNC:HGNC:39051, NCBI Gene:100271846 No 0 0 0 0 +PA27878 30816 HGNC:13525 ENSG00000242950 endogenous retrovirus group W member 1, envelope ERVW-1 """HERV-7q envelope protein"", ""HERV-W Env glycoprotein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-tryptophan envelope protein"", ""endogenous retrovirus group W, member 1"", ""envelope glycoprotein"", ""envelope protein"", ""enverin"", ""syncytin"", ""syncytin-1""" ERVWE1, HERV-7q, HERV-W, HERV-W-ENV, HERVW, envW Yes No Ensembl:ENSG00000242950, GenAtlas:ERVWE1, GeneCard:ERVWE1, HGNC:HGNC:13525, ModBase:Q9UQF0, NCBI Gene:30816, OMIM:604659, RefSeq DNA:NG_004112, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001124397, RefSeq Protein:NP_055405, RefSeq RNA:NM_001130925, RefSeq RNA:NM_014590, UCSC Genome Browser:NM_014590, UniProtKB:D0EYG5, UniProtKB:Q9UQF0 No chr7 92097694 92107229 92468380 92477915 +PA134957843 100379323 HGNC:37653 endogenous retrovirus group W, member 2 ERVW-2 NTrenv Yes No GeneCard:ERVW-2, HGNC:HGNC:37653, NCBI Gene:100379323 No chrX +PA27879 2090 HGNC:3462 esterase A4 ESA4 Yes No GenAtlas:ESA4, GeneCard:ESA4, HGNC:HGNC:3462, NCBI Gene:2090, OMIM:133220 No chr11 +PA134954912 90952 HGNC:17474 ENSG00000149564 endothelial cell adhesion molecule ESAM W117m Yes No Ensembl:ENSG00000149564, GeneCard:ESAM, HGNC:HGNC:17474, HumanCyc Gene:HS14291, ModBase:Q96AP7, NCBI Gene:90952, RefSeq DNA:NT_033899, RefSeq Protein:NP_620411, RefSeq RNA:NM_138961, UniProtKB:Q96AP7 No chr11 124623019 124632223 124753123 124762327 +PA27880 2096 HGNC:3463 esterase activator ESAT Yes No GenAtlas:ESAT, GeneCard:ESAT, HGNC:HGNC:3463, NCBI Gene:2096, OMIM:133250 No chr14 +PA27881 2097 HGNC:3464 esterase B3 ESB3 Yes No GenAtlas:ESB3, GeneCard:ESB3, HGNC:HGNC:3464, NCBI Gene:2097, OMIM:133290 No chr16 +PA134924215 114799 HGNC:24645 ENSG00000141446 establishment of sister chromatid cohesion N-acetyltransferase 1 ESCO1 establishment of cohesion 1 homolog 1 (S. cerevisiae) EFO1, ESO1, KIAA1911 Yes No Ensembl:ENSG00000141446, GeneCard:ESCO1, HGNC:HGNC:24645, ModBase:Q5FWF5, NCBI Gene:114799, OMIM:609674, RefSeq DNA:NT_010966, RefSeq Protein:NP_443143, RefSeq RNA:NM_052911, UniProtKB:Q5FWF5 No chr18 19109242 19180697 21529281 21601015 +PA134891970 157570 HGNC:27230 ENSG00000171320 establishment of sister chromatid cohesion N-acetyltransferase 2 ESCO2 establishment of cohesion 1 homolog 2 (S. cerevisiae) EFO2, RBS Yes No Comparative Toxicogenomics Database:157570, Ensembl:ENSG00000171320, GeneCard:ESCO2, HGNC:HGNC:27230, ModBase:Q56NI9, NCBI Gene:157570, OMIM:268300, OMIM:269000, OMIM:609353, RefSeq DNA:NG_008117, RefSeq DNA:NT_167187, RefSeq Protein:NP_001017420, RefSeq RNA:NM_001017420, UniProtKB:Q56NI9 No chr8 27632057 27670141 27771949 27812404 +PA27882 2098 HGNC:3465 ENSG00000139684 esterase D ESD S-formylglutathione hydrolase Yes No Comparative Toxicogenomics Database:2098, Ensembl:ENSG00000139684, GenAtlas:ESD, GeneCard:ESD, HGNC:HGNC:3465, HumanCyc Gene:HS06649, ModBase:P10768, NCBI Gene:2098, OMIM:133280, RefSeq DNA:NT_024524, RefSeq Protein:NP_001975, RefSeq RNA:NM_001984, UCSC Genome Browser:NM_001984, UniProtKB:P10768 No chr13 47345391 47371423 46771256 46797681 +PA162385420 51575 HGNC:15898 ENSG00000089048 ESF1 nucleolar pre-rRNA processing protein homolog ESF1 ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) C20orf6, bA526K24.1 Yes No Ensembl:ENSG00000089048, GeneCard:ESF1, HGNC:HGNC:15898, HumanCyc Gene:HS12317, ModBase:Q9H501, NCBI Gene:51575, RefSeq DNA:NT_011387, RefSeq Protein:NP_057733, RefSeq RNA:NM_016649, UniProtKB:Q9H501 No chr20 13694969 13765579 13714322 13784933 +PA27883 11082 HGNC:3466 ENSG00000164283 endothelial cell specific molecule 1 ESM1 endothelial cell-specific molecule 1 Yes No Comparative Toxicogenomics Database:11082, Ensembl:ENSG00000164283, GenAtlas:ESM1, GeneCard:ESM1, HGNC:HGNC:3466, HumanCyc Gene:HS09051, ModBase:Q9NQ30, NCBI Gene:11082, OMIM:601521, RefSeq DNA:NT_006713, RefSeq Protein:NP_001129076, RefSeq Protein:NP_008967, RefSeq RNA:NM_001135604, RefSeq RNA:NM_007036, UCSC Genome Browser:NM_007036, UniProtKB:Q3V4E3, UniProtKB:Q9NQ30 No chr5 54273695 54281414 54977867 54985586 +PA27884 9700 HGNC:16856 ENSG00000135476 extra spindle pole bodies like 1, separase ESPL1 """extra spindle pole bodies homolog 1 (S. cerevisiae)"", ""separase"", ""separin"", ""separin, cysteine protease""" ESP1, KIAA0165, SEPA Yes No Ensembl:ENSG00000135476, GenAtlas:ESPL1, GeneCard:ESPL1, HGNC:HGNC:16856, HumanCyc Gene:HS06016, NCBI Gene:9700, OMIM:604143, RefSeq DNA:NT_029419, RefSeq Protein:NP_036423, RefSeq RNA:NM_012291, UCSC Genome Browser:NM_012291, UniProtKB:Q14674 No chr12 53662083 53687427 53268257 53293643 +PA27885 83715 HGNC:13281 ENSG00000187017 espin ESPN DFNB36 Yes No Comparative Toxicogenomics Database:83715, Ensembl:ENSG00000187017, GenAtlas:ESPN, GeneCard:ESPN, HGNC:HGNC:13281, HumanCyc Gene:HS12865, ModBase:B1AK53, NCBI Gene:83715, OMIM:606351, OMIM:609006, RefSeq DNA:NG_015866, RefSeq DNA:NT_021937, RefSeq Protein:NP_113663, RefSeq RNA:NM_031475, UCSC Genome Browser:NM_031475, UniProtKB:B1AK53 No chr1 6484836 6521004 6424776 6461367 +PA162385421 339768 HGNC:27937 ENSG00000144488 espin like ESPNL espin-like FLJ42568 Yes No Ensembl:ENSG00000144488, GeneCard:ESPNL, HGNC:HGNC:27937, NCBI Gene:339768, RefSeq DNA:NT_005120, RefSeq Protein:NP_919288, RefSeq RNA:NM_194312, UniProtKB:Q6ZVH7 No chr2 239008951 239041928 238100310 238133287 +PA142671902 284729 HGNC:23285 ENSG00000268869 espin pseudogene ESPNP Yes No Ensembl:ENSG00000268869, GeneCard:ESPNP, HGNC:HGNC:23285, NCBI Gene:284729, RefSeq DNA:NT_004610, RefSeq RNA:NR_026567 No chr1 17017713 17046652 16691218 16720157 +PA156 2099 HGNC:3467 ENSG00000091831 estrogen receptor 1 ESR1 E2 receptor alpha, estradiol receptor, estrogen receptor alpha, nuclear receptor subfamily 3 group A member 1, oestrogen receptor alpha ER, ER-alpha, ESR, Era, NR3A1 Yes Yes Comparative Toxicogenomics Database:2099, Ensembl:ENSG00000091831, GenAtlas:ESR1, GeneCard:ESR1, HGNC:HGNC:3467, HumanCyc Gene:HS01746, ModBase:P03372, NCBI Gene:2099, OMIM:133430, OMIM:157300, OMIM:608446, RefSeq DNA:NG_008493, RefSeq DNA:NT_025741, RefSeq Protein:NP_000116, RefSeq Protein:NP_001116212, RefSeq Protein:NP_001116213, RefSeq Protein:NP_001116214, RefSeq RNA:NM_000125, RefSeq RNA:NM_001122740, RefSeq RNA:NM_001122741, RefSeq RNA:NM_001122742, UCSC Genome Browser:NM_000125, UniProtKB:P03372, UniProtKB:Q5T5H7, UniProtKB:Q9UBT1 No chr6 152011631 152424409 151654148 152103274 +PA27886 2100 HGNC:3468 ENSG00000140009 estrogen receptor 2 ESR2 ER beta, estrogen receptor 2 (ER beta), estrogen receptor beta, nuclear receptor subfamily 3 group A member 2, oestrogen receptor beta ER-beta, Erb, NR3A2 Yes Yes Comparative Toxicogenomics Database:2100, Ensembl:ENSG00000140009, GenAtlas:ESR2, GeneCard:ESR2, HGNC:HGNC:3468, HumanCyc Gene:HS06675, ModBase:Q9UEV6, NCBI Gene:2100, OMIM:601663, RefSeq DNA:NG_011535, RefSeq DNA:NT_026437, RefSeq Protein:NP_001035365, RefSeq Protein:NP_001035366, RefSeq Protein:NP_001201831, RefSeq Protein:NP_001201832, RefSeq Protein:NP_001428, RefSeq RNA:NM_001040275, RefSeq RNA:NM_001040276, RefSeq RNA:NM_001214902, RefSeq RNA:NM_001214903, RefSeq RNA:NM_001437, UCSC Genome Browser:NM_001437, UniProtKB:Q7LCB3, UniProtKB:Q92731 No chr14 64693751 64805268 64226712 64338631 +PA164719324 54845 HGNC:25966 ENSG00000104413 epithelial splicing regulatory protein 1 ESRP1 FLJ20171, RBM35A Yes No Ensembl:ENSG00000104413, GeneCard:ESRP1, HGNC:HGNC:25966, HumanCyc Gene:HS02579, NCBI Gene:54845, OMIM:612959, RefSeq DNA:NT_008046, RefSeq Protein:NP_001030087, RefSeq Protein:NP_001116297, RefSeq Protein:NP_001116298, RefSeq Protein:NP_001116299, RefSeq Protein:NP_060167, RefSeq RNA:NM_001034915, RefSeq RNA:NM_001122825, RefSeq RNA:NM_001122826, RefSeq RNA:NM_001122827, RefSeq RNA:NM_017697, UniProtKB:Q6NXG1 No chr8 95653364 95719694 94640999 94707466 +PA164719361 80004 HGNC:26152 ENSG00000103067 epithelial splicing regulatory protein 2 ESRP2 FLJ21918, RBM35B Yes No Ensembl:ENSG00000103067, GeneCard:ESRP2, HGNC:HGNC:26152, HumanCyc Gene:HS02452, NCBI Gene:80004, OMIM:612960, RefSeq DNA:NT_010498, RefSeq Protein:NP_079215, RefSeq RNA:NM_024939, UniProtKB:Q9H6T0 No chr16 68262450 68270136 68228547 68236233 +PA27887 2101 HGNC:3471 ENSG00000173153 estrogen related receptor alpha ESRRA estrogen-related receptor alpha ERR1, ERRa, ERRalpha, ESRL1, NR3B1 Yes No Comparative Toxicogenomics Database:2101, Ensembl:ENSG00000173153, GenAtlas:ESRRA, GeneCard:ESRRA, HGNC:HGNC:3471, HumanCyc Gene:HS10622, ModBase:P11474, NCBI Gene:2101, OMIM:601998, RefSeq DNA:NT_167190, RefSeq Protein:NP_004442, RefSeq RNA:NM_004451, UCSC Genome Browser:NM_004451, UniProtKB:P11474, UniProtKB:Q569H8 No chr11 64072990 64084215 64305528 64316743 +PA27888 144847 HGNC:3472 ENSG00000215572 estrogen-related receptor alpha pseudogene 1 ESRRAP1 Yes No Ensembl:ENSG00000215572, GenAtlas:ESRRAP, GeneCard:ESRRAP1, HGNC:HGNC:3472, NCBI Gene:144847, RefSeq DNA:NG_001009 No chr13 20133953 20135412 19559417 19561498 +PA27889 2103 HGNC:3473 ENSG00000119715 estrogen related receptor beta ESRRB estrogen-related receptor beta DFNB35, ERR2, ERRb, ERRbeta, ESRL2, NR3B2 Yes No Comparative Toxicogenomics Database:2103, Ensembl:ENSG00000119715, GenAtlas:ESRRB, GeneCard:ESRRB, HGNC:HGNC:3473, HumanCyc Gene:HS04331, ModBase:O95718, NCBI Gene:2103, OMIM:602167, OMIM:608565, RefSeq DNA:NG_012278, RefSeq DNA:NT_026437, RefSeq Protein:NP_004443, RefSeq RNA:NM_004452, UCSC Genome Browser:NM_004452, UniProtKB:A2VDJ2, UniProtKB:Q5F0P7 No chr14 76837690 76968182 76371347 76501839 +PA27891 2104 HGNC:3474 ENSG00000196482 estrogen related receptor gamma ESRRG estrogen-related receptor gamma ERR-gamma, ERRg, NR3B3 Yes No Comparative Toxicogenomics Database:2104, Ensembl:ENSG00000196482, GenAtlas:ESRRG, GeneCard:ESRRG, HGNC:HGNC:3474, ModBase:Q9R1F3, NCBI Gene:2104, OMIM:602969, RefSeq DNA:NT_167186, RefSeq Protein:NP_001127757, RefSeq Protein:NP_001429, RefSeq Protein:NP_996317, RefSeq Protein:NP_996318, RefSeq RNA:NM_001134285, RefSeq RNA:NM_001438, RefSeq RNA:NM_206594, RefSeq RNA:NM_206595, RefSeq RNA:NR_024099, UCSC Genome Browser:NM_001438, UniProtKB:P62508 No chr1 216676588 217311097 216503246 217137757 +PA134913100 8220 HGNC:16817 ENSG00000100056 ess-2 splicing factor homolog ESS2 DiGeorge syndrome critical region gene 14 DGCR13, DGCR14, DGS-H, DGSI, ES2, ESS-2, Es2el, bis1 Yes No Ensembl:ENSG00000100056, GeneCard:DGCR14, HGNC:HGNC:16817, HumanCyc Gene:HS12384, ModBase:Q96DF8, NCBI Gene:8220, OMIM:601755, RefSeq DNA:NG_008320, RefSeq DNA:NT_011519, RefSeq Protein:NP_073210, RefSeq RNA:NM_022719, UniProtKB:Q96DF8 No chr22 19117792 19132190 19130279 19144726 +PA27892 80712 HGNC:14865 ENSG00000123576 ESX homeobox 1 ESX1 ESX1L, ESXR1 Yes No Ensembl:ENSG00000123576, GenAtlas:ESX1, GeneCard:ESX1, HGNC:HGNC:14865, HumanCyc Gene:HS04675, ModBase:Q8N693, NCBI Gene:80712, OMIM:300154, RefSeq DNA:NG_016393, RefSeq DNA:NT_011651, RefSeq Protein:NP_703149, RefSeq RNA:NM_153448, UCSC Genome Browser:NM_153448, UniProtKB:Q8N693 No chrX 103494719 103499599 104250038 104254918 +PA165512688 23344 HGNC:29534 ENSG00000139641 extended synaptotagmin 1 ESYT1 extended synaptotagmin-like protein 1 FAM62A, KIAA0747, MBC2 Yes No Comparative Toxicogenomics Database:23344, Ensembl:ENSG00000139641, GeneCard:ESYT1, HGNC:HGNC:29534, HumanCyc Gene:HS06644, ModBase:Q9BSJ8, NCBI Gene:23344, RefSeq DNA:NT_029419, RefSeq Protein:NP_001171725, RefSeq Protein:NP_056107, RefSeq RNA:NM_001184796, RefSeq RNA:NM_015292, UniProtKB:Q9BSJ8 No chr12 56521985 56547259 56128202 56144676 +PA165617947 57488 HGNC:22211 ENSG00000117868 extended synaptotagmin 2 ESYT2 extended synaptotagmin-like protein 2 CHR2SYT, FAM62B, KIAA1228 Yes Yes Ensembl:ENSG00000117868, GeneCard:ESYT2, HGNC:HGNC:22211, ModBase:Q9ULJ2, NCBI Gene:57488, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_065779, RefSeq RNA:NM_020728, UniProtKB:A0FGR8 No chr7 158523688 158622729 158730998 158829628 +PA165697118 83850 HGNC:24295 ENSG00000158220 extended synaptotagmin 3 ESYT3 extended synaptotagmin-like protein 3 CHR3SYT, FAM62C Yes No Ensembl:ENSG00000158220, GeneCard:ESYT3, HGNC:HGNC:24295, ModBase:A0FGR9, NCBI Gene:83850, RefSeq DNA:NT_005612, RefSeq Protein:NP_114119, RefSeq RNA:NM_031913, UniProtKB:A0FGR9 No chr3 138153415 138197910 138434573 138479942 +PA162385444 54465 HGNC:24648 ENSG00000143971 ETAA1 activator of ATR kinase ETAA1 """ETAA1, ATR kinase activator"", ""Ewing tumor-associated antigen 1""" ETAA16 Yes No Ensembl:ENSG00000143971, GeneCard:ETAA1, HGNC:HGNC:24648, HumanCyc Gene:HS13997, ModBase:Q9NY74, NCBI Gene:54465, OMIM:613196, RefSeq DNA:NT_022184, RefSeq Protein:NP_061875, RefSeq RNA:NM_019002, UniProtKB:Q9NY74 No chr2 67624442 67637540 67397310 67410411 +PA166182669 101928677 HGNC:53449 ENSG00000238210 embryonic testis differentiation homolog A ETDA Yes No Ensembl:ENSG00000238210, HGNC:HGNC:53449, NCBI Gene:101928677 No 0 0 0 0 +PA166180614 100129515 HGNC:44269 ENSG00000224107 embryonic testis differentiation homolog B ETDB LINC00633 Yes No Ensembl:ENSG00000224107, HGNC:HGNC:44269, NCBI Gene:100129515 No 0 0 0 0 +PA166180615 110806299 HGNC:53450 ENSG00000283644 embryonic testis differentiation homolog C ETDC Yes No Ensembl:ENSG00000283644, HGNC:HGNC:53450, NCBI Gene:110806299 No 0 0 0 0 +PA27893 2107 HGNC:3477 ENSG00000120705 eukaryotic translation termination factor 1 ETF1 ERF1, polypeptide chain release factor 1, sup45 (yeast omnipotent suppressor 45) homolog-like 1 ERF, RF1, SUP45L1, TB3-1, eRF1 Yes No Comparative Toxicogenomics Database:2107, Ensembl:ENSG00000120705, GenAtlas:ETF1, GeneCard:ETF1, HGNC:HGNC:3477, HumanCyc Gene:HS04426, ModBase:P62495, NCBI Gene:2107, OMIM:600285, RefSeq DNA:NT_034772, RefSeq Protein:NP_004721, RefSeq RNA:NM_004730, UCSC Genome Browser:NM_004730, UniProtKB:P62495, UniProtKB:Q96CG1 No chr5 137841782 137878989 138506093 138543300 +PA27894 6824 HGNC:3478 ENSG00000232757 eukaryotic translation termination factor 1 pseudogene 1 ETF1P1 HCGVII Yes No Ensembl:ENSG00000232757, GenAtlas:ETF1P1, GeneCard:ETF1P1, HGNC:HGNC:3478, NCBI Gene:6824, RefSeq DNA:NG_001028, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29999490 30001654 30031713 30033877 +PA27895 6825 HGNC:3479 ENSG00000240132 eukaryotic translation termination factor 1 pseudogene 2 ETF1P2 Yes No Ensembl:ENSG00000240132, GenAtlas:ETF1P2, GeneCard:ETF1P2, HGNC:HGNC:3479, NCBI Gene:6825, RefSeq DNA:NG_001198, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 151198918 151201398 151501725 151504327 +PA27896 100132121 HGNC:3480 ENSG00000233833 eukaryotic translation termination factor 1 pseudogene 3 ETF1P3 Yes No Ensembl:ENSG00000233833, GenAtlas:ETF1P3, GeneCard:ETF1P3, HGNC:HGNC:3480, NCBI Gene:100132121, RefSeq DNA:NG_009869, RefSeq DNA:NT_011669 No chrX 65014187 65017871 65794345 65798029 +PA27897 2108 HGNC:3481 ENSG00000140374 electron transfer flavoprotein subunit alpha ETFA """electron-transfer-flavoprotein, alpha polypeptide"", ""glutaric aciduria II"", ""multiple acyl-CoA dehydrogenase deficiency""" EMA, GA2, MADD Yes No Comparative Toxicogenomics Database:2108, Ensembl:ENSG00000140374, GenAtlas:ETFA, GeneCard:ETFA, HGNC:HGNC:3481, HumanCyc Gene:HS06707, NCBI Gene:2108, OMIM:231680, OMIM:608053, RefSeq DNA:NG_007077, RefSeq DNA:NT_010194, RefSeq Protein:NP_000117, RefSeq Protein:NP_001121188, RefSeq RNA:NM_000126, RefSeq RNA:NM_001127716, UCSC Genome Browser:NM_000126, UniProtKB:B4DT43, UniProtKB:P13804, UniProtKB:Q53XN3 No chr15 76508628 76603810 76216228 76311469 +PA27898 2109 HGNC:3482 ENSG00000105379 electron transfer flavoprotein subunit beta ETFB electron-transfer-flavoprotein, beta polypeptide Yes Yes Comparative Toxicogenomics Database:2109, Ensembl:ENSG00000105379, GenAtlas:ETFB, GeneCard:ETFB, HGNC:HGNC:3482, HumanCyc Gene:HS02727, ModBase:P38117, NCBI Gene:2109, OMIM:130410, OMIM:231680, RefSeq DNA:NG_007115, RefSeq DNA:NT_011109, RefSeq Protein:NP_001014763, RefSeq Protein:NP_001976, RefSeq RNA:NM_001014763, RefSeq RNA:NM_001985, UCSC Genome Browser:NM_001985, UniProtKB:P38117 No chr19 51848409 51869672 51345155 51366418 +PA164716777 254013 HGNC:28739 ENSG00000139160 electron transfer flavoprotein subunit beta lysine methyltransferase ETFBKMT methyltransferase like 20 C12orf72, DKFZp451L235, METTL20, MGC50559 Yes No Ensembl:ENSG00000139160, GeneCard:C12orf72, HGNC:HGNC:28739, ModBase:Q8IXQ9, NCBI Gene:254013, RefSeq DNA:NT_009714, RefSeq Protein:NP_001129335, RefSeq Protein:NP_001129336, RefSeq Protein:NP_776163, RefSeq RNA:NM_001135863, RefSeq RNA:NM_001135864, RefSeq RNA:NM_173802, UniProtKB:Q8IXQ9 No chr12 31800094 31822016 31647160 31669082 +PA27899 2110 HGNC:3483 ENSG00000171503 electron transfer flavoprotein dehydrogenase ETFDH electron-transferring-flavoprotein dehydrogenase ETFQO Yes Yes Comparative Toxicogenomics Database:2110, Ensembl:ENSG00000171503, GenAtlas:ETFDH, GeneCard:ETFDH, HGNC:HGNC:3483, HumanCyc Gene:HS10326, ModBase:Q16134, NCBI Gene:2110, OMIM:231675, OMIM:231680, RefSeq DNA:NG_007078, RefSeq DNA:NT_016354, RefSeq Protein:NP_004444, RefSeq RNA:NM_004453, UCSC Genome Browser:NM_004453, UniProtKB:Q16134 No chr4 159593277 159629842 158672101 158708713 +PA162394773 144363 HGNC:27052 ENSG00000205707 electron transfer flavoprotein regulatory factor 1 ETFRF1 LYR motif containing 5 LYRM5 Yes Yes Ensembl:ENSG00000205707, GeneCard:LYRM5, HGNC:HGNC:27052, NCBI Gene:144363, RefSeq DNA:NT_009714, RefSeq Protein:NP_001001660, RefSeq RNA:NM_001001660, UniProtKB:Q6IPR1 No chr12 25348150 25357949 25195216 25205051 +PA134879650 23474 HGNC:23287 ENSG00000105755 ETHE1 persulfide dioxygenase ETHE1 """ETHE1, persulfide dioxygenase"", ""ethylmalonic encephalopathy 1""" HSCO, YF13H12 Yes No Comparative Toxicogenomics Database:23474, Ensembl:ENSG00000105755, GeneCard:ETHE1, HGNC:HGNC:23287, HumanCyc Gene:HS12604, ModBase:O95571, NCBI Gene:23474, OMIM:602473, OMIM:608451, RefSeq DNA:NG_008141, RefSeq DNA:NT_011109, RefSeq Protein:NP_055112, RefSeq RNA:NM_014297, UniProtKB:O95571 No chr19 44010871 44031408 43506719 43527256 +PA134921265 55500 HGNC:24649 ENSG00000139163 ethanolamine kinase 1 ETNK1 EKI, EKI1 Yes No Comparative Toxicogenomics Database:55500, Ensembl:ENSG00000139163, GeneCard:ETNK1, HGNC:HGNC:24649, HumanCyc Gene:HS06586, ModBase:Q9HBU6, NCBI Gene:55500, OMIM:609858, RefSeq DNA:NT_009714, RefSeq Protein:NP_001034570, RefSeq Protein:NP_061108, RefSeq RNA:NM_001039481, RefSeq RNA:NM_018638, UniProtKB:Q9HBU6 No chr12 22778076 22843608 22625142 22690674 +PA134888760 55224 HGNC:25575 ENSG00000143845 ethanolamine kinase 2 ETNK2 EKI2, FLJ10761 Yes No Comparative Toxicogenomics Database:55224, Ensembl:ENSG00000143845, GeneCard:ETNK2, HGNC:HGNC:25575, HumanCyc Gene:HS07115, ModBase:Q9NVF9, NCBI Gene:55224, OMIM:609859, RefSeq DNA:NT_004487, RefSeq Protein:NP_060678, RefSeq RNA:NM_018208, UniProtKB:Q9NVF9 No chr1 204100190 204121307 204131061 204152182 +PA24635 64850 HGNC:14404 ENSG00000164089 ethanolamine-phosphate phospho-lyase ETNPPL alanine-glyoxylate aminotransferase 2-like 1 AGXT2L1 Yes No Comparative Toxicogenomics Database:64850, Ensembl:ENSG00000164089, GenAtlas:AGXT2L1, GeneCard:AGXT2L1, HGNC:HGNC:14404, HumanCyc Gene:HS09008, ModBase:Q8TBG4, NCBI Gene:64850, RefSeq DNA:NT_016354, RefSeq Protein:NP_001140062, RefSeq Protein:NP_001140099, RefSeq Protein:NP_112569, RefSeq RNA:NM_001146590, RefSeq RNA:NM_001146627, RefSeq RNA:NM_031279, RefSeq RNA:NR_027474, RefSeq RNA:NR_027475, UCSC Genome Browser:NM_031279, UniProtKB:B7Z1Y0, UniProtKB:Q8TBG4 No chr4 109663196 109684235 108742040 108763180 +PA27902 2113 HGNC:3488 ENSG00000134954 ETS proto-oncogene 1, transcription factor ETS1 Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1, ets protein, v-ets avian erythroblastosis virus E26 oncogene homolog 1, v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) ETS-1, EWSR2, FLJ10768 Yes No Comparative Toxicogenomics Database:2113, Ensembl:ENSG00000134954, GenAtlas:ETS1, GeneCard:ETS1, HGNC:HGNC:3488, HumanCyc Gene:HS05933, ModBase:P14921, NCBI Gene:2113, OMIM:164720, RefSeq DNA:NT_033899, RefSeq Protein:NP_001137292, RefSeq Protein:NP_001155894, RefSeq Protein:NP_005229, RefSeq RNA:NM_001143820, RefSeq RNA:NM_001162422, RefSeq RNA:NM_005238, UCSC Genome Browser:NM_005238, UniProtKB:A8K725, UniProtKB:B4DW78, UniProtKB:P14921, UniProtKB:Q6N087 No chr11 128328656 128457453 128458761 128587593 +PA27903 2114 HGNC:3489 ENSG00000157557 ETS proto-oncogene 2, transcription factor ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2, v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) Yes Yes Comparative Toxicogenomics Database:2114, Ensembl:ENSG00000157557, GenAtlas:ETS2, GeneCard:ETS2, HGNC:HGNC:3489, HumanCyc Gene:HS08223, ModBase:P15036, NCBI Gene:2114, OMIM:164740, RefSeq DNA:NT_011512, RefSeq Protein:NP_005230, RefSeq RNA:NM_005239, UCSC Genome Browser:NM_005239, UniProtKB:P15036 No chr21 40177231 40196879 38805307 38824955 +PA27904 2115 HGNC:3490 ENSG00000006468 ETS variant transcription factor 1 ETV1 ets variant 1 ER81 Yes No Comparative Toxicogenomics Database:2115, Ensembl:ENSG00000006468, GenAtlas:ETV1, GeneCard:ETV1, HGNC:HGNC:3490, HumanCyc Gene:HS00179, ModBase:P50549, NCBI Gene:2115, OMIM:600541, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001156619, RefSeq Protein:NP_001156620, RefSeq Protein:NP_001156621, RefSeq Protein:NP_001156622, RefSeq Protein:NP_001156623, RefSeq Protein:NP_001156624, RefSeq Protein:NP_004947, RefSeq RNA:NM_001163147, RefSeq RNA:NM_001163148, RefSeq RNA:NM_001163149, RefSeq RNA:NM_001163150, RefSeq RNA:NM_001163151, RefSeq RNA:NM_001163152, RefSeq RNA:NM_004956, UCSC Genome Browser:NM_004956, UniProtKB:B7Z618, UniProtKB:P50549, UniProtKB:Q59GA7, UniProtKB:Q6AI30 No chr7 13930854 14031050 13891229 13991425 +PA27905 2116 HGNC:3491 ENSG00000105672 ETS variant transcription factor 2 ETV2 ets variant 2 ER71 Yes No Ensembl:ENSG00000105672, GenAtlas:ETV2, GeneCard:ETV2, HGNC:HGNC:3491, HumanCyc Gene:HS02789, ModBase:O00321, NCBI Gene:2116, OMIM:609358, RefSeq DNA:NT_011109, RefSeq Protein:NP_055024, RefSeq RNA:NM_014209, UniProtKB:B3KUL0, UniProtKB:B5MD42 No chr19 36132647 36136007 35641175 35644871 +PA27906 2117 HGNC:3492 ENSG00000117036 ETS variant transcription factor 3 ETV3 ets variant 3 PE-1 Yes No Comparative Toxicogenomics Database:2117, Ensembl:ENSG00000117036, GenAtlas:ETV3, GeneCard:ETV3, HGNC:HGNC:3492, HumanCyc Gene:HS04088, ModBase:P41162, NCBI Gene:2117, OMIM:164873, RefSeq DNA:NT_004487, RefSeq Protein:NP_001138784, RefSeq Protein:NP_005231, RefSeq RNA:NM_001145312, RefSeq RNA:NM_005240, UCSC Genome Browser:NM_005240, UniProtKB:B4E3M7, UniProtKB:P41162 No chr1 157094459 157108383 157121191 157138591 +PA162385461 440695 HGNC:33834 ENSG00000253831 ETS variant transcription factor 3 like ETV3L ETS variant 3 like, ets variant 3-like FLJ16478 Yes No Ensembl:ENSG00000253831, GeneCard:ETV3L, HGNC:HGNC:33834, ModBase:Q6ZN32, NCBI Gene:440695, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004341, RefSeq RNA:NM_001004341, UniProtKB:Q6ZN32 No chr1 157061835 157069600 157092043 157099808 +PA27907 2118 HGNC:3493 ENSG00000175832 ETS variant transcription factor 4 ETV4 E1A enhancer binding protein, ets variant 4 E1A-F, E1AF, PEA3 Yes No Comparative Toxicogenomics Database:2118, Ensembl:ENSG00000175832, GenAtlas:ETV4, GeneCard:ETV4, HGNC:HGNC:3493, HumanCyc Gene:HS10978, ModBase:P43268, NCBI Gene:2118, OMIM:600711, RefSeq DNA:NT_010783, RefSeq Protein:NP_001073143, RefSeq Protein:NP_001977, RefSeq RNA:NM_001079675, RefSeq RNA:NM_001986, UCSC Genome Browser:NM_001986, UniProtKB:P43268 No chr17 41605211 41623800 43527843 43546432 +PA27908 2119 HGNC:3494 ENSG00000244405 ETS variant transcription factor 5 ETV5 ets variant 5, ets-related molecule ERM Yes No Comparative Toxicogenomics Database:2119, Ensembl:ENSG00000244405, GenAtlas:ETV5, GeneCard:ETV5, HGNC:HGNC:3494, ModBase:P41161, NCBI Gene:2119, OMIM:601600, RefSeq DNA:NT_005612, RefSeq Protein:NP_004445, RefSeq RNA:NM_004454, UCSC Genome Browser:NM_004454, UniProtKB:P41161 No chr3 185764106 185826901 186046317 186109112 +PA27909 2120 HGNC:3495 ENSG00000139083 ETS variant transcription factor 6 ETV6 TEL oncogene, ets variant 6 MPE, TEL Yes Yes Comparative Toxicogenomics Database:2120, Ensembl:ENSG00000139083, GenAtlas:ETV6, GeneCard:ETV6, HGNC:HGNC:3495, HumanCyc Gene:HS06578, ModBase:P41212, NCBI Gene:2120, OMIM:131440, OMIM:600618, OMIM:601626, RefSeq DNA:NG_011443, RefSeq DNA:NT_009714, RefSeq Protein:NP_001978, RefSeq RNA:NM_001987, UCSC Genome Browser:NM_001987, UniProtKB:P41212 No chr12 11802788 12048336 11649601 11895402 +PA134980006 51513 HGNC:18160 ENSG00000010030 ETS variant transcription factor 7 ETV7 TEL2 oncogene, ets variant 7 TEL-2, TEL2 Yes No Ensembl:ENSG00000010030, GeneCard:ETV7, HGNC:HGNC:18160, HumanCyc Gene:HS00272, ModBase:Q9Y604, NCBI Gene:51513, OMIM:605255, RefSeq DNA:NT_007592, RefSeq Protein:NP_001193964, RefSeq Protein:NP_001193965, RefSeq Protein:NP_001193966, RefSeq Protein:NP_001193967, RefSeq Protein:NP_001193968, RefSeq Protein:NP_001193969, RefSeq Protein:NP_001193970, RefSeq Protein:NP_057219, RefSeq RNA:NM_001207035, RefSeq RNA:NM_001207036, RefSeq RNA:NM_001207037, RefSeq RNA:NM_001207038, RefSeq RNA:NM_001207039, RefSeq RNA:NM_001207040, RefSeq RNA:NM_001207041, RefSeq RNA:NM_016135, UniProtKB:Q9Y603 No chr6 36321998 36355577 36354221 36387800 +PA162387354 84141 HGNC:25816 ENSG00000115363 eva-1 homolog A, regulator of programmed cell death EVA1A eva-1 homolog A (C. elegans) FAM176A, FLJ13391, TMEM166 Yes No Ensembl:ENSG00000115363, GeneCard:FAM176A, HGNC:HGNC:25816, HumanCyc Gene:HS12842, ModBase:Q9H8M9, NCBI Gene:84141, RefSeq DNA:NT_022184, RefSeq Protein:NP_001128504, RefSeq Protein:NP_115557, RefSeq RNA:NM_001135032, RefSeq RNA:NM_032181, UniProtKB:Q9H8M9 No chr2 75719444 75796848 75492318 75569722 +PA162387367 55194 HGNC:25558 ENSG00000142694 eva-1 homolog B EVA1B eva-1 homolog B (C. elegans) C1orf78, FAM176B, FLJ10647 Yes No Ensembl:ENSG00000142694, GeneCard:FAM176B, HGNC:HGNC:25558, HumanCyc Gene:HS13937, NCBI Gene:55194, RefSeq DNA:NT_032977, RefSeq Protein:NP_060636, RefSeq RNA:NM_018166, UniProtKB:Q9NVM1 No chr1 36787631 36790567 36322030 36324154 +PA25858 59271 HGNC:13239 ENSG00000166979 eva-1 homolog C EVA1C eva-1 homolog C (C. elegans) B18, B19, C21orf63, C21orf64, FAM176C, PRED34 Yes No Ensembl:ENSG00000166979, GenAtlas:C21orf63, GeneCard:C21orf63, HGNC:HGNC:13239, HumanCyc Gene:HS09494, ModBase:P58658, NCBI Gene:59271, RefSeq DNA:NT_011512, RefSeq Protein:NP_478067, RefSeq RNA:NM_058187, UCSC Genome Browser:NM_058187, UniProtKB:B3KWG0, UniProtKB:P58658 No chr21 33784034 33887702 32411692 32515400 +PA27911 2121 HGNC:3497 ENSG00000072840 EvC ciliary complex subunit 1 EVC Ellis van Creveld syndrome DWF-1, EVC1 Yes No Comparative Toxicogenomics Database:2121, Ensembl:ENSG00000072840, GenAtlas:EVC, GeneCard:EVC, HGNC:HGNC:3497, HumanCyc Gene:HS01086, ModBase:P57679, NCBI Gene:2121, OMIM:193530, OMIM:225500, OMIM:604831, RefSeq DNA:NG_008843, RefSeq DNA:NT_006051, RefSeq Protein:NP_714928, RefSeq RNA:NM_153717, UCSC Genome Browser:NM_014556, UniProtKB:P57679 No chr4 5712924 5816031 5711197 5829043 +PA134989044 132884 HGNC:19747 ENSG00000173040 EvC ciliary complex subunit 2 EVC2 Ellis van Creveld syndrome 2, limbin LBN Yes No Comparative Toxicogenomics Database:132884, Ensembl:ENSG00000173040, GeneCard:EVC2, HGNC:HGNC:19747, HumanCyc Gene:HS16164, ModBase:Q86UK5, NCBI Gene:132884, OMIM:225500, OMIM:607261, RefSeq DNA:NG_015821, RefSeq DNA:NT_006051, RefSeq Protein:NP_001159608, RefSeq Protein:NP_667338, RefSeq RNA:NM_001166136, RefSeq RNA:NM_147127, UniProtKB:Q86UK5 No chr4 5544531 5711275 5531921 5709548 +PA27913 2123 HGNC:3499 ENSG00000126860 ecotropic viral integration site 2A EVI2A EVDA, EVI2 Yes No Comparative Toxicogenomics Database:2123, Ensembl:ENSG00000126860, GenAtlas:EVI2A, GeneCard:EVI2A, HGNC:HGNC:3499, HumanCyc Gene:HS05055, NCBI Gene:2123, OMIM:158380, RefSeq DNA:NT_010799, RefSeq Protein:NP_001003927, RefSeq Protein:NP_055025, RefSeq RNA:NM_001003927, RefSeq RNA:NM_014210, UCSC Genome Browser:NM_014210, UniProtKB:P22794 No chr17 29643428 29648767 31316410 31321749 +PA27914 2124 HGNC:3500 ENSG00000185862 ecotropic viral integration site 2B EVI2B CD361, D17S376, EVDB Yes No Comparative Toxicogenomics Database:2124, Ensembl:ENSG00000185862, GenAtlas:EVI2B, GeneCard:EVI2B, HGNC:HGNC:3500, NCBI Gene:2124, OMIM:158381, RefSeq DNA:NT_010799, RefSeq Protein:NP_006486, RefSeq RNA:NM_006495, UCSC Genome Browser:NM_006495, UniProtKB:P34910, UniProtKB:Q9BRW1 No chr17 29629888 29641130 31303766 31314149 +PA27915 7813 HGNC:3501 ENSG00000067208 ecotropic viral integration site 5 EVI5 neuroblastoma stage 4S gene NB4S Yes No Comparative Toxicogenomics Database:7813, Ensembl:ENSG00000067208, GenAtlas:EVI5, GeneCard:EVI5, HGNC:HGNC:3501, HumanCyc Gene:HS00904, ModBase:O60447, NCBI Gene:7813, OMIM:602942, RefSeq DNA:NT_032977, RefSeq Protein:NP_005656, RefSeq RNA:NM_005665, UCSC Genome Browser:NM_005665, UniProtKB:O60447, UniProtKB:Q59FE7 No chr1 92974253 93257961 92508696 92792404 +PA134905968 115704 HGNC:30464 ENSG00000142459 ecotropic viral integration site 5 like EVI5L ecotropic viral integration site 5-like Yes No Ensembl:ENSG00000142459, GeneCard:EVI5L, HGNC:HGNC:30464, HumanCyc Gene:HS06925, ModBase:Q96CN4, NCBI Gene:115704, RefSeq DNA:NT_077812, RefSeq Protein:NP_001153416, RefSeq Protein:NP_660288, RefSeq RNA:NM_001159944, RefSeq RNA:NM_145245, UniProtKB:B9A6I9, UniProtKB:Q96CN4 No chr19 7895161 7929862 7830275 7864976 +PA134890866 51466 HGNC:20234 ENSG00000196405 Enah/Vasp-like EVL RNB6 Yes No Comparative Toxicogenomics Database:51466, Ensembl:ENSG00000196405, GeneCard:EVL, HGNC:HGNC:20234, ModBase:Q9UI08, NCBI Gene:51466, RefSeq DNA:NT_026437, RefSeq Protein:NP_057421, RefSeq RNA:NM_016337, UniProtKB:Q9UI08 No chr14 100485719 100610573 99971454 100144236 +PA27916 2125 HGNC:3503 ENSG00000167880 envoplakin EVPL EVPK Yes No Ensembl:ENSG00000167880, GenAtlas:EVPL, GeneCard:EVPL, HGNC:HGNC:3503, HumanCyc Gene:HS09655, ModBase:Q92817, NCBI Gene:2125, OMIM:601590, RefSeq DNA:NT_010783, RefSeq Protein:NP_001979, RefSeq RNA:NM_001988, UCSC Genome Browser:NM_001988, UniProtKB:A0AUV5, UniProtKB:Q92817 No chr17 74002926 74023533 76006845 76027452 +PA164719396 645027 HGNC:35236 ENSG00000214860 envoplakin like EVPLL envoplakin-like Yes No Ensembl:ENSG00000214860, GeneCard:EVPLL, HGNC:HGNC:35236, NCBI Gene:645027, RefSeq DNA:NT_010718, RefSeq Protein:NP_001138599, RefSeq RNA:NM_001145127, UniProtKB:A8MZ36 No chr17 18281079 18292961 18377673 18389652 +PA27919 2128 HGNC:3506 ENSG00000106038 even-skipped homeobox 1 EVX1 Yes No Comparative Toxicogenomics Database:2128, Ensembl:ENSG00000106038, GenAtlas:EVX1, GeneCard:EVX1, HGNC:HGNC:3506, HumanCyc Gene:HS02853, ModBase:P49640, NCBI Gene:2128, OMIM:142996, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001980, RefSeq RNA:NM_001989, UCSC Genome Browser:NM_001989, UniProtKB:P49640 No chr7 27282164 27287438 27242545 27247819 +PA27920 344191 HGNC:3507 ENSG00000174279 even-skipped homeobox 2 EVX2 Yes No Ensembl:ENSG00000174279, GenAtlas:EVX2, GeneCard:EVX2, HGNC:HGNC:3507, ModBase:Q03828, NCBI Gene:344191, OMIM:142991, RefSeq DNA:NG_012893, RefSeq DNA:NT_005403, RefSeq Protein:NP_001073927, RefSeq RNA:NM_001080458, UCSC Genome Browser:NM_005242, UniProtKB:Q03828 No chr2 176944835 176948690 176080107 176083962 +PA27921 2130 HGNC:3508 ENSG00000182944 EWS RNA binding protein 1 EWSR1 EWS RNA-binding protein 1, Ewing sarcoma breakpoint region 1 EWS Yes No Comparative Toxicogenomics Database:2130, Ensembl:ENSG00000182944, GenAtlas:EWSR1, GeneCard:EWSR1, HGNC:HGNC:3508, ModBase:Q01844, NCBI Gene:2130, OMIM:133450, OMIM:612219, RefSeq DNA:NG_023240, RefSeq DNA:NT_011520, RefSeq Protein:NP_001156757, RefSeq Protein:NP_001156758, RefSeq Protein:NP_001156759, RefSeq Protein:NP_005234, RefSeq Protein:NP_053733, RefSeq RNA:NM_001163285, RefSeq RNA:NM_001163286, RefSeq RNA:NM_001163287, RefSeq RNA:NM_005243, RefSeq RNA:NM_013986, UCSC Genome Browser:NM_005243, UniProtKB:B0QYK1, UniProtKB:Q01844, UniProtKB:Q96FE8, UniProtKB:Q96MN4, UniProtKB:Q96MX4, UniProtKB:Q9BWA2 No chr22 29663998 29696515 29268009 29300525 +PA164719420 161829 HGNC:28507 ENSG00000178997 exonuclease 3'-5' domain containing 1 EXD1 EXDL1, MGC33637 Yes No Ensembl:ENSG00000178997, GeneCard:EXD1, HGNC:HGNC:28507, HumanCyc Gene:HS11339, NCBI Gene:161829, RefSeq DNA:NT_010194, RefSeq Protein:NP_689809, RefSeq RNA:NM_152596, UniProtKB:Q8NHP7 No chr15 41474926 41522955 41182728 41231074 +PA164719421 55218 HGNC:20217 ENSG00000081177 exonuclease 3'-5' domain containing 2 EXD2 C14orf114, EXDL2, FLJ10738 Yes No Ensembl:ENSG00000081177, GeneCard:EXD2, HGNC:HGNC:20217, HumanCyc Gene:HS01387, ModBase:Q9NVH0, NCBI Gene:55218, RefSeq DNA:NT_026437, RefSeq Protein:NP_001180289, RefSeq Protein:NP_001180290, RefSeq Protein:NP_001180291, RefSeq Protein:NP_001180292, RefSeq Protein:NP_060669, RefSeq RNA:NM_001193360, RefSeq RNA:NM_001193361, RefSeq RNA:NM_001193362, RefSeq RNA:NM_001193363, RefSeq RNA:NM_018199, RefSeq RNA:NR_034164, RefSeq RNA:NR_034165, UniProtKB:Q9NVH0 No chr14 69658194 69710737 69191477 69244020 +PA164719422 54932 HGNC:26023 ENSG00000187609 exonuclease 3'-5' domain containing 3 EXD3 nibbler homolog FLJ20433, LOC54932, Nbr, mut-7 Yes No Ensembl:ENSG00000187609, GeneCard:EXD3, HGNC:HGNC:26023, NCBI Gene:54932, RefSeq DNA:NT_024000, RefSeq Protein:NP_060290, RefSeq RNA:NM_017820, UniProtKB:B8A4U7, UniProtKB:Q8N9H8 No chr9 140201346 140317714 137306894 137423262 +PA27923 9156 HGNC:3511 ENSG00000174371 exonuclease 1 EXO1 rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 HEX1, hExoI Yes Yes Comparative Toxicogenomics Database:9156, Ensembl:ENSG00000174371, GenAtlas:EXO1, GeneCard:EXO1, HGNC:HGNC:3511, HumanCyc Gene:HS10792, ModBase:Q9UQ84, NCBI Gene:9156, OMIM:606063, RefSeq DNA:NT_167186, RefSeq Protein:NP_003677, RefSeq Protein:NP_006018, RefSeq Protein:NP_569082, RefSeq RNA:NM_003686, RefSeq RNA:NM_006027, RefSeq RNA:NM_130398, UCSC Genome Browser:NM_003686, UniProtKB:Q9UQ84 No chr1 242011491 242053241 241847967 241889939 +PA164718736 64789 HGNC:26115 ENSG00000164002 exonuclease 5 EXO5 C1orf176, DEM1, FLJ21144 Yes No Ensembl:ENSG00000164002, GeneCard:DEM1, HGNC:HGNC:26115, HumanCyc Gene:HS15135, ModBase:Q9H790, NCBI Gene:64789, RefSeq DNA:NT_032977, RefSeq Protein:NP_073611, RefSeq RNA:NM_022774, UniProtKB:Q9H790 No chr1 40974391 40982228 40508719 40516556 +PA134891660 55763 HGNC:30380 ENSG00000090989 exocyst complex component 1 EXOC1 BM-102, FLJ10893, SEC3, SEC3L1, Sec3p Yes No Comparative Toxicogenomics Database:55763, Ensembl:ENSG00000090989, GeneCard:EXOC1, HGNC:HGNC:30380, HumanCyc Gene:HS01714, ModBase:Q9NV70, NCBI Gene:55763, OMIM:607879, RefSeq DNA:NT_022853, RefSeq Protein:NP_001020095, RefSeq Protein:NP_060731, RefSeq Protein:NP_839955, RefSeq RNA:NM_001024924, RefSeq RNA:NM_018261, RefSeq RNA:NM_178237, UniProtKB:Q9NV70 No chr4 56719802 56771244 55853616 55905078 +PA166180616 644145 HGNC:53433 ENSG00000250821 exocyst complex component 1 like EXOC1L Yes No Ensembl:ENSG00000250821, HGNC:HGNC:53433, NCBI Gene:644145 No 0 0 0 0 +PA134862170 55770 HGNC:24968 ENSG00000112685 exocyst complex component 2 EXOC2 FLJ11026, SEC5L1, Sec5, Sec5p Yes No Ensembl:ENSG00000112685, GeneCard:EXOC2, HGNC:HGNC:24968, HumanCyc Gene:HS03605, ModBase:Q96KP1, NCBI Gene:55770, RefSeq DNA:NT_007592, RefSeq Protein:NP_060773, RefSeq RNA:NM_018303, UniProtKB:B3KPN7, UniProtKB:Q96KP1 No chr6 485138 693141 485138 693141 +PA134869816 11336 HGNC:30378 ENSG00000180104 exocyst complex component 3 EXOC3 SEC6L1, Sec6, Sec6p Yes No Ensembl:ENSG00000180104, GeneCard:EXOC3, HGNC:HGNC:30378, HumanCyc Gene:HS11450, NCBI Gene:11336, OMIM:608186, RefSeq DNA:NT_006576, RefSeq Protein:NP_009208, RefSeq RNA:NM_007277, UniProtKB:O60645, UniProtKB:Q69YP2, UniProtKB:Q6P2E8 No chr5 443305 467414 443184 471938 +PA147031724 283849 HGNC:27540 ENSG00000179044 exocyst complex component 3 like 1 EXOC3L1 exocyst complex component 3-like 1 EXOC3L, FLJ35539, FLJ35587 Yes No Ensembl:ENSG00000179044, GeneCard:EXOC3L, HGNC:HGNC:27540, ModBase:Q86VI1, NCBI Gene:283849, RefSeq DNA:NT_010498, RefSeq Protein:NP_848611, RefSeq RNA:NM_178516, UniProtKB:Q86VI1 No chr16 67217652 67224112 67184379 67190204 +PA162385462 90332 HGNC:30162 ENSG00000283632 exocyst complex component 3 like 2 EXOC3L2 exocyst complex component 3-like 2 FLJ36147, XTP7 Yes No Ensembl:ENSG00000283632, GeneCard:EXOC3L2, HGNC:HGNC:30162, HumanCyc Gene:HS13322, ModBase:Q2M3D2, NCBI Gene:90332, RefSeq DNA:NT_011109, RefSeq Protein:NP_612635, RefSeq RNA:NM_138568, UniProtKB:Q2M3D2 No chr19 45715879 45737469 45212621 45234211 +PA134980508 91828 HGNC:20120 ENSG00000205436 exocyst complex component 3 like 4 EXOC3L4 exocyst complex component 3-like 4 C14orf73 Yes No Ensembl:ENSG00000205436, GeneCard:C14orf73, HGNC:HGNC:20120, ModBase:Q17RC7, NCBI Gene:91828, RefSeq DNA:NT_026437, RefSeq Protein:NP_001071062, RefSeq RNA:NM_001077594, UniProtKB:Q17RC7 No chr14 103561044 103576896 103094202 103110562 +PA134944654 60412 HGNC:30389 ENSG00000131558 exocyst complex component 4 EXOC4 KIAA1699, MGC27170, SEC8, SEC8L1, Sec8p Yes Yes Comparative Toxicogenomics Database:60412, Ensembl:ENSG00000131558, GeneCard:EXOC4, HGNC:HGNC:30389, HumanCyc Gene:HS05544, ModBase:Q96A65, NCBI Gene:60412, OMIM:608185, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001032203, RefSeq Protein:NP_068579, RefSeq RNA:NM_001037126, RefSeq RNA:NM_021807, UniProtKB:Q6NX51, UniProtKB:Q96A65 No chr7 132937823 133750514 133253067 134067137 +PA35619 10640 HGNC:10696 ENSG00000070367 exocyst complex component 5 EXOC5 SEC10, SEC10L1, SEC10P Yes No Ensembl:ENSG00000070367, GenAtlas:EXOC5, GeneCard:EXOC5, HGNC:HGNC:10696, HumanCyc Gene:HS00991, ModBase:O00471, NCBI Gene:10640, OMIM:604469, RefSeq DNA:NT_026437, RefSeq Protein:NP_006535, RefSeq RNA:NM_006544, UCSC Genome Browser:NM_006544, UniProtKB:O00471, UniProtKB:Q8IW24 No chr14 57669194 57735726 57202476 57268899 +PA134908462 54536 HGNC:23196 ENSG00000138190 exocyst complex component 6 EXOC6 DKFZp761I2124, EXOC6A, FLJ1125, MGC33397, SEC15L, SEC15L1, Sec15, Sec15p Yes No Comparative Toxicogenomics Database:54536, Ensembl:ENSG00000138190, GeneCard:EXOC6, HGNC:HGNC:23196, HumanCyc Gene:HS06472, ModBase:Q8TAG9, NCBI Gene:54536, OMIM:609672, RefSeq DNA:NT_030059, RefSeq Protein:NP_001013870, RefSeq Protein:NP_061926, RefSeq RNA:NM_001013848, RefSeq RNA:NM_019053, UniProtKB:B3KXY5, UniProtKB:Q8TAG9 No chr10 94590887 94819251 92826831 93059494 +PA162385463 23233 HGNC:17085 ENSG00000144036 exocyst complex component 6B EXOC6B KIAA0919, SEC15B, SEC15L2 Yes No Ensembl:ENSG00000144036, GeneCard:EXOC6B, HGNC:HGNC:17085, NCBI Gene:23233, OMIM:607880, RefSeq DNA:NT_022184, RefSeq Protein:NP_056004, RefSeq Protein:XP_039570, RefSeq Protein:XP_947434, RefSeq Protein:XP_951009, RefSeq Protein:XP_951011, RefSeq RNA:NM_015189, RefSeq RNA:XM_039570, RefSeq RNA:XM_942341, RefSeq RNA:XM_945916, RefSeq RNA:XM_945918, UniProtKB:Q9H8D6, UniProtKB:Q9Y2D4 No chr2 72403113 73053177 72175984 72826042 +PA134988420 23265 HGNC:23214 ENSG00000182473 exocyst complex component 7 EXOC7 BLOM4, EXO70, Exo70p, KIAA1067, YJL085W Yes No Ensembl:ENSG00000182473, GeneCard:EXOC7, HGNC:HGNC:23214, ModBase:Q9UPT5, NCBI Gene:23265, OMIM:608163, RefSeq DNA:NT_010783, RefSeq Protein:NP_001013861, RefSeq Protein:NP_001138768, RefSeq Protein:NP_001138769, RefSeq Protein:NP_001138770, RefSeq Protein:NP_001138771, RefSeq Protein:NP_056034, RefSeq RNA:NM_001013839, RefSeq RNA:NM_001145296, RefSeq RNA:NM_001145297, RefSeq RNA:NM_001145298, RefSeq RNA:NM_001145299, RefSeq RNA:NM_015219, RefSeq RNA:NR_028133, UniProtKB:B5MC69, UniProtKB:B8XXP2, UniProtKB:Q63HP7, UniProtKB:Q9UPT5 No chr17 74077086 74099868 76080993 76104221 +PA134991382 149371 HGNC:24659 ENSG00000116903 exocyst complex component 8 EXOC8 EXO84, Exo84p, SEC84 Yes No Comparative Toxicogenomics Database:149371, Ensembl:ENSG00000116903, GeneCard:EXOC8, HGNC:HGNC:24659, ModBase:Q8IYI6, NCBI Gene:149371, RefSeq DNA:NT_167186, RefSeq Protein:NP_787072, RefSeq RNA:NM_175876, UniProtKB:Q8IYI6 No chr1 231468482 231473578 231332731 231337872 +PA27784 9941 HGNC:3347 ENSG00000157036 exo/endonuclease G EXOG endo/exonuclease (5'-3'), endonuclease G-like ENDOGL1, ENDOGL2, ENGL, ENGL-a, ENGL-b Yes No Comparative Toxicogenomics Database:9941, Ensembl:ENSG00000157036, GenAtlas:ENDOGL1, GeneCard:ENDOGL1, GeneCard:EXOG, HGNC:HGNC:3347, HumanCyc Gene:HS08171, ModBase:Q9Y2C4, NCBI Gene:9941, OMIM:604051, RefSeq DNA:NT_022517, RefSeq Protein:NP_001138936, RefSeq Protein:NP_005098, RefSeq RNA:NM_001145464, RefSeq RNA:NM_005107, UCSC Genome Browser:NM_005107, UniProtKB:B4DVG2, UniProtKB:Q9Y2C4 No chr3 38537763 38583721 38496127 38526305 +PA134900737 51013 HGNC:17286 ENSG00000171311 exosome component 1 EXOSC1 CSL4 exosomal core protein homolog (yeast) CGI-108, CSL4, Csl4p, SKI4, Ski4p, hCsl4p, p13 Yes No Ensembl:ENSG00000171311, GeneCard:EXOSC1, HGNC:HGNC:17286, HumanCyc Gene:HS10285, ModBase:Q9Y3B2, NCBI Gene:51013, OMIM:606493, RefSeq DNA:NT_030059, RefSeq Protein:NP_057130, RefSeq RNA:NM_016046, UniProtKB:Q9Y3B2 No chr10 99195666 99205808 97435909 97446065 +PA33464 5394 HGNC:9138 ENSG00000171824 exosome component 10 EXOSC10 polymyositis/scleroderma autoantigen 2 (100kD) PM-Scl, PM/Scl-100, PMSCL2, RRP6, Rrp6p, p2, p3, p4 Yes No Comparative Toxicogenomics Database:5394, Ensembl:ENSG00000171824, GenAtlas:EXOSC10, GeneCard:EXOSC10, HGNC:HGNC:9138, HumanCyc Gene:HS10391, ModBase:Q01780, NCBI Gene:5394, OMIM:605960, RefSeq DNA:NT_021937, RefSeq Protein:NP_001001998, RefSeq Protein:NP_002676, RefSeq RNA:NM_001001998, RefSeq RNA:NM_002685, UCSC Genome Browser:NM_002685, UniProtKB:Q01780 No chr1 11126675 11159961 11066613 11099910 +PA134876020 23404 HGNC:17097 ENSG00000130713 exosome component 2 EXOSC2 homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4) RRP4, Rrp4p, hRrp4p, p7 Yes No Comparative Toxicogenomics Database:23404, Ensembl:ENSG00000130713, GeneCard:EXOSC2, HGNC:HGNC:17097, HumanCyc Gene:HS05427, ModBase:Q13868, NCBI Gene:23404, OMIM:602238, RefSeq DNA:NT_035014, RefSeq Protein:NP_055100, RefSeq RNA:NM_014285, UniProtKB:Q13868 No chr9 133569158 133580452 130693760 130704894 +PA134926550 51010 HGNC:17944 ENSG00000107371 exosome component 3 EXOSC3 CGI-102 protein, exosome component Rrp40 CGI-102, RRP40, Rrp40p, hRrp-40, hRrp40p, p10 Yes No Ensembl:ENSG00000107371, GeneCard:EXOSC3, HGNC:HGNC:17944, HumanCyc Gene:HS02994, ModBase:Q9NQT5, NCBI Gene:51010, OMIM:606489, RefSeq DNA:NT_008413, RefSeq Protein:NP_001002269, RefSeq Protein:NP_057126, RefSeq RNA:NM_001002269, RefSeq RNA:NM_016042, UniProtKB:A8K0K6, UniProtKB:Q5QP85, UniProtKB:Q9NQT5 No chr9 37779711 37785089 37779714 37785092 +PA134867931 54512 HGNC:18189 ENSG00000178896 exosome component 4 EXOSC4 exosome component Rrp41 FLJ20591, RRP41, RRP41A, Rrp41p, SKI6, Ski6p, hRrp41p, p12A Yes No Ensembl:ENSG00000178896, GeneCard:EXOSC4, HGNC:HGNC:18189, HumanCyc Gene:HS11325, ModBase:Q9NPD3, NCBI Gene:54512, OMIM:606491, RefSeq DNA:NT_008046, RefSeq Protein:NP_061910, RefSeq RNA:NM_019037, UniProtKB:Q9NPD3 No chr8 145133522 145135551 144064092 144080648 +PA134890468 56915 HGNC:24662 ENSG00000077348 exosome component 5 EXOSC5 exosome component Rrp46 MGC12901, RRP41B, RRP46, Rrp46p, hRrp46p, p12B Yes No Comparative Toxicogenomics Database:56915, Ensembl:ENSG00000077348, GeneCard:EXOSC5, HGNC:HGNC:24662, HumanCyc Gene:HS01243, ModBase:Q9NQT4, NCBI Gene:56915, OMIM:606492, RefSeq DNA:NT_011109, RefSeq Protein:NP_064543, RefSeq RNA:NM_020158, UniProtKB:Q9NQT4 No chr19 41892275 41903289 41386370 41397351 +PA134932096 118460 HGNC:19055 ENSG00000223496 exosome component 6 EXOSC6 Mtr3 (mRNA transport regulator 3)-homolog (yeast) EAP4, MTR3, Mtr3p, hMtr3p, p11 Yes No Ensembl:ENSG00000223496, GeneCard:EXOSC6, HGNC:HGNC:19055, ModBase:Q5RKV6, NCBI Gene:118460, OMIM:606490, RefSeq DNA:NT_010498, RefSeq Protein:NP_478126, RefSeq RNA:NM_058219, UniProtKB:Q5RKV6 No chr16 70284134 70285833 70250231 70251930 +PA134880567 23016 HGNC:28112 ENSG00000075914 exosome component 7 EXOSC7 EAP1, KIAA0116, RRP42, Rrp42p, hRrp42p, p8 Yes No Comparative Toxicogenomics Database:23016, Ensembl:ENSG00000075914, GeneCard:EXOSC7, HGNC:HGNC:28112, HumanCyc Gene:HS01193, ModBase:Q15024, NCBI Gene:23016, OMIM:606488, RefSeq DNA:NT_022517, RefSeq Protein:NP_055819, RefSeq RNA:NM_015004, RefSeq RNA:NR_023353, UniProtKB:B2RDZ9, UniProtKB:Q15024 No chr3 45017741 45054160 44975291 45012668 +PA134922251 11340 HGNC:17035 ENSG00000120699 exosome component 8 EXOSC8 CBP-interacting protein 3, Opa interacting protein 2 CIP3, EAP2, OIP2, RRP43, Rrp43p, bA421P11.3, p9 Yes No Comparative Toxicogenomics Database:11340, Ensembl:ENSG00000120699, GeneCard:EXOSC8, HGNC:HGNC:17035, ModBase:Q96B26, NCBI Gene:11340, OMIM:606019, RefSeq DNA:NT_024524, RefSeq Protein:NP_852480, RefSeq RNA:NM_181503, UniProtKB:Q96B26 No chr13 37574678 37583751 37000373 37009614 +PA33463 5393 HGNC:9137 ENSG00000123737 exosome component 9 EXOSC9 polymyositis/scleroderma autoantigen 1 (75kD) PM/Scl-75, PMSCL1, RRP45, Rrp45p, p5, p6 Yes No Comparative Toxicogenomics Database:5393, Ensembl:ENSG00000123737, GenAtlas:EXOSC9, GeneCard:EXOSC9, HGNC:HGNC:9137, HumanCyc Gene:HS04688, ModBase:Q06265, NCBI Gene:5393, OMIM:606180, RefSeq DNA:NT_016354, RefSeq Protein:NP_001029366, RefSeq Protein:NP_005024, RefSeq RNA:NM_001034194, RefSeq RNA:NM_005033, UCSC Genome Browser:NM_005033, UniProtKB:Q06265 No chr4 122722445 122738176 121801295 121817021 +PA142671900 23086 HGNC:30578 ENSG00000110723 exophilin 5 EXPH5 synaptotagmin-like homologue lacking C2 domains b SLAC2-B Yes No Ensembl:ENSG00000110723, GeneCard:EXPH5, HGNC:HGNC:30578, HumanCyc Gene:HS12727, NCBI Gene:23086, OMIM:612878, RefSeq DNA:NT_033899, RefSeq Protein:NP_001138235, RefSeq Protein:NP_001138237, RefSeq Protein:NP_055880, RefSeq RNA:NM_001144763, RefSeq RNA:NM_001144765, RefSeq RNA:NM_015065, UniProtKB:B4E2C3, UniProtKB:Q149M6, UniProtKB:Q6AI59 No chr11 108376158 108464492 108505431 108607514 +PA27924 2131 HGNC:3512 ENSG00000182197 exostosin glycosyltransferase 1 EXT1 Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase LGCR, LGS, ttv Yes No Comparative Toxicogenomics Database:2131, Ensembl:ENSG00000182197, GenAtlas:EXT1, GeneCard:EXT1, HGNC:HGNC:3512, HumanCyc Gene:HS00012, ModBase:Q16394, NCBI Gene:2131, OMIM:133700, OMIM:150230, OMIM:215300, OMIM:608177, RefSeq DNA:NG_007455, RefSeq DNA:NT_008046, RefSeq Protein:NP_000118, RefSeq RNA:NM_000127, UCSC Genome Browser:NM_000127, UniProtKB:Q16394 No chr8 118811602 119124058 117797496 118111819 +PA27925 2132 HGNC:3513 ENSG00000151348 exostosin glycosyltransferase 2 EXT2 Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase SOTV Yes No Comparative Toxicogenomics Database:2132, Ensembl:ENSG00000151348, GenAtlas:EXT2, GeneCard:EXT2, HGNC:HGNC:3513, HumanCyc Gene:HS07726, ModBase:Q93063, NCBI Gene:2132, OMIM:133701, OMIM:608210, RefSeq DNA:NG_007560, RefSeq DNA:NT_009237, RefSeq Protein:NP_000392, RefSeq Protein:NP_001171554, RefSeq Protein:NP_997005, RefSeq RNA:NM_000401, RefSeq RNA:NM_001178083, RefSeq RNA:NM_207122, UCSC Genome Browser:NM_000401, UniProtKB:C9JU51, UniProtKB:Q93063 No chr11 44117099 44266980 44095549 44245430 +PA27927 2134 HGNC:3515 ENSG00000158008 exostosin like glycosyltransferase 1 EXTL1 """alpha-N-acetylglucosaminyltransferase II"", ""exostosin-L"", ""exostosin-like glycosyltransferase 1"", ""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase""" EXTL, MGC70794 Yes No Comparative Toxicogenomics Database:2134, Ensembl:ENSG00000158008, GenAtlas:EXTL1, GeneCard:EXTL1, HGNC:HGNC:3515, HumanCyc Gene:HS08259, ModBase:Q92935, NCBI Gene:2134, OMIM:601738, RefSeq DNA:NT_004610, RefSeq Protein:NP_004446, RefSeq RNA:NM_004455, UCSC Genome Browser:NM_004455, UniProtKB:Q92935 No chr1 26348266 26362955 26021749 26036464 +PA27928 2135 HGNC:3516 ENSG00000162694 exostosin like glycosyltransferase 2 EXTL2 """alpha-1,4-N-acteylhexosaminyltransferase"", ""exostosin-like glycosyltransferase 2""" Yes No Ensembl:ENSG00000162694, GenAtlas:EXTL2, GeneCard:EXTL2, HGNC:HGNC:3516, HumanCyc Gene:HS08719, ModBase:Q9UBQ6, NCBI Gene:2135, OMIM:602411, RefSeq DNA:NT_032977, RefSeq Protein:NP_001028197, RefSeq Protein:NP_001430, RefSeq RNA:NM_001033025, RefSeq RNA:NM_001439, UCSC Genome Browser:NM_001439, UniProtKB:Q05DH5, UniProtKB:Q49A43, UniProtKB:Q8N8F1, UniProtKB:Q9UBQ6 No chr1 101337928 101361548 100872372 100895411 +PA27930 2137 HGNC:3518 ENSG00000012232 exostosin like glycosyltransferase 3 EXTL3 REG receptor, exostosin-like glycosyltransferase 3, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase REGR, botv Yes No Comparative Toxicogenomics Database:2137, Ensembl:ENSG00000012232, GenAtlas:EXTL3, GeneCard:EXTL3, HGNC:HGNC:3518, HumanCyc Gene:HS00333, ModBase:O43909, NCBI Gene:2137, OMIM:605744, RefSeq DNA:NT_167187, RefSeq Protein:NP_001431, RefSeq RNA:NM_001440, UCSC Genome Browser:NM_001440, UniProtKB:O43909 No chr8 28558990 28611207 28701473 28753690 +PA142672369 101929402 HGNC:27985 ENSG00000246339 EXTL3 antisense RNA 1 EXTL3-AS1 Yes No Ensembl:ENSG00000246339, GeneCard:C8orf50, HGNC:HGNC:27985, NCBI Gene:101929402 No chr8 28555920 28558981 28698403 28701464 +PA27931 2138 HGNC:3519 ENSG00000104313 EYA transcriptional coactivator and phosphatase 1 EYA1 eyes absent homolog 1 (Drosophila) BOR Yes Yes Comparative Toxicogenomics Database:2138, Ensembl:ENSG00000104313, GenAtlas:EYA1, GeneCard:EYA1, HGNC:HGNC:3519, HumanCyc Gene:HS02561, ModBase:Q99502, NCBI Gene:2138, OMIM:113650, OMIM:166780, OMIM:601653, RefSeq DNA:NG_011735, RefSeq DNA:NT_008183, RefSeq Protein:NP_000494, RefSeq Protein:NP_742055, RefSeq Protein:NP_742056, RefSeq Protein:NP_742057, RefSeq RNA:NM_000503, RefSeq RNA:NM_172058, RefSeq RNA:NM_172059, RefSeq RNA:NM_172060, UCSC Genome Browser:NM_000503, UniProtKB:Q8WX80, UniProtKB:Q99502 No chr8 72109668 72459888 71197433 71548130 +PA27932 2139 HGNC:3520 ENSG00000064655 EYA transcriptional coactivator and phosphatase 2 EYA2 eyes absent homolog 2 (Drosophila) EAB1 Yes No Comparative Toxicogenomics Database:2139, Ensembl:ENSG00000064655, GenAtlas:EYA2, GeneCard:EYA2, HGNC:HGNC:3520, HumanCyc Gene:HS00812, ModBase:Q9H4S9, NCBI Gene:2139, OMIM:601654, RefSeq DNA:NG_011673, RefSeq DNA:NT_011362, RefSeq Protein:NP_005235, RefSeq Protein:NP_742108, RefSeq Protein:NP_742109, RefSeq Protein:NP_742110, RefSeq Protein:NP_742111, RefSeq RNA:NM_005244, RefSeq RNA:NM_172110, RefSeq RNA:NM_172111, RefSeq RNA:NM_172112, RefSeq RNA:NM_172113, UCSC Genome Browser:NM_005244, UniProtKB:O00167 No chr20 45523263 45817492 46894624 47188844 +PA27933 2140 HGNC:3521 ENSG00000158161 EYA transcriptional coactivator and phosphatase 3 EYA3 eyes absent homolog 3 (Drosophila) DKFZp686C132 Yes No Ensembl:ENSG00000158161, GenAtlas:EYA3, GeneCard:EYA3, HGNC:HGNC:3521, HumanCyc Gene:HS08271, NCBI Gene:2140, OMIM:601655, RefSeq DNA:NT_004610, RefSeq Protein:NP_001981, RefSeq RNA:NM_001990, UCSC Genome Browser:NM_001990, UniProtKB:Q99504 No chr1 28296855 28415173 27970344 28088671 +PA27934 2070 HGNC:3522 ENSG00000112319 EYA transcriptional coactivator and phosphatase 4 EYA4 eyes absent homolog 4 (Drosophila) CMD1J, DFNA10 Yes Yes Comparative Toxicogenomics Database:2070, Ensembl:ENSG00000112319, GenAtlas:EYA4, GeneCard:EYA4, HGNC:HGNC:3522, HumanCyc Gene:HS03559, ModBase:O95677, NCBI Gene:2070, OMIM:601316, OMIM:603550, OMIM:605362, RefSeq DNA:NG_011596, RefSeq DNA:NT_025741, RefSeq Protein:NP_004091, RefSeq Protein:NP_742101, RefSeq Protein:NP_742103, RefSeq RNA:NM_004100, RefSeq RNA:NM_172103, RefSeq RNA:NM_172105, UCSC Genome Browser:NM_004100, UniProtKB:O95677, UniProtKB:Q96CJ7 No chr6 133561512 133853258 133240340 133532120 +PA164719488 346007 HGNC:21555 ENSG00000188107 eyes shut homolog EYS eyes shut homolog (Drosophila) C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, RP25, SPAM, bA166P24.2, bA307F22.3, bA74E24.1, dJ1018A4.2, dJ303F19.1 Yes Yes Ensembl:ENSG00000188107, GeneCard:EYS, HGNC:HGNC:21555, NCBI Gene:346007, OMIM:602772, OMIM:612424, RefSeq DNA:NG_023443, RefSeq DNA:NT_007299, RefSeq Protein:NP_001136272, RefSeq Protein:NP_001136273, RefSeq Protein:NP_938024, RefSeq RNA:NM_001142800, RefSeq RNA:NM_001142801, RefSeq RNA:NM_198283, UniProtKB:Q5SZM4, UniProtKB:Q5T1H1 No chr6 64429876 66417118 63719980 65707225 +PA27938 2145 HGNC:3526 ENSG00000108799 enhancer of zeste 1 polycomb repressive complex 2 subunit EZH1 enhancer of zeste homolog 1 (Drosophila) KIAA0388, KMT6B Yes No Comparative Toxicogenomics Database:2145, Ensembl:ENSG00000108799, GenAtlas:EZH1, GeneCard:EZH1, HGNC:HGNC:3526, HumanCyc Gene:HS03158, ModBase:Q53XP3, NCBI Gene:2145, OMIM:601674, RefSeq DNA:NT_010783, RefSeq Protein:NP_001982, RefSeq RNA:NM_001991, UCSC Genome Browser:NM_001991, UniProtKB:Q92800 No chr17 40852293 40897095 42700275 42745096 +PA27939 2146 HGNC:3527 ENSG00000106462 enhancer of zeste 2 polycomb repressive complex 2 subunit EZH2 enhancer of zeste homolog 2 (Drosophila) ENX-1, EZH1, KMT6, KMT6A Yes No Comparative Toxicogenomics Database:2146, Ensembl:ENSG00000106462, GenAtlas:EZH2, GeneCard:EZH2, HGNC:HGNC:3527, HumanCyc Gene:HS02911, ModBase:Q15910, NCBI Gene:2146, OMIM:601573, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001190176, RefSeq Protein:NP_001190177, RefSeq Protein:NP_001190178, RefSeq Protein:NP_004447, RefSeq Protein:NP_694543, RefSeq RNA:NM_001203247, RefSeq RNA:NM_001203248, RefSeq RNA:NM_001203249, RefSeq RNA:NM_004456, RefSeq RNA:NM_152998, UCSC Genome Browser:NM_004456, UniProtKB:Q15910 No chr7 148504464 148581441 148807372 148884662 +PA166049013 340602 HGNC:33738 ENSG00000187690 EZH inhibitory protein EZHIP catalytic antagonist of Polycomb, chromosome X open reading frame 67 CATACOMB, CXorf67 Yes No Ensembl:ENSG00000187690, HGNC:HGNC:33738, NCBI Gene:340602 No chrX 51149573 51151690 51406915 51408838 +PA162385512 7430 HGNC:12691 ENSG00000092820 ezrin EZR cytovillin 2 VIL2 Yes No Ensembl:ENSG00000092820, GeneCard:EZR, HGNC:HGNC:12691, HumanCyc Gene:HS01778, ModBase:P15311, NCBI Gene:7430, OMIM:123900, RefSeq DNA:NT_025741, RefSeq Protein:NP_001104547, RefSeq Protein:NP_003370, RefSeq RNA:NM_001111077, RefSeq RNA:NM_003379, UniProtKB:P15311 No chr6 159186773 159240456 158765741 158819424 +PA27940 2159 HGNC:3528 ENSG00000126218 coagulation factor X F10 Yes No Comparative Toxicogenomics Database:2159, Ensembl:ENSG00000126218, GenAtlas:F10, GeneCard:F10, HGNC:HGNC:3528, HumanCyc Gene:HS05000, ModBase:P00742, NCBI Gene:2159, OMIM:227600, RefSeq DNA:NG_009258, RefSeq DNA:NT_027140, RefSeq Protein:NP_000495, RefSeq RNA:NM_000504, UCSC Genome Browser:NM_000504, UniProtKB:P00742, UniProtKB:Q5JVE7 No chr13 113777113 113803843 113122799 113149529 +PA27941 2160 HGNC:3529 ENSG00000088926 coagulation factor XI F11 plasma thromboplastin antecedent FXI Yes Yes Comparative Toxicogenomics Database:2160, Ensembl:ENSG00000088926, GenAtlas:F11, GeneCard:F11, HGNC:HGNC:3529, HumanCyc Gene:HS01617, ModBase:P03951, NCBI Gene:2160, OMIM:264900, OMIM:612416, RefSeq DNA:NG_008051, RefSeq DNA:NT_016354, RefSeq Protein:NP_000119, RefSeq RNA:NM_000128, UCSC Genome Browser:NM_000128, UniProtKB:P03951 No chr4 187187099 187210835 186265945 186290727 +PA29991 50848 HGNC:14685 ENSG00000158769 F11 receptor F11R CD321, JAM-1, JAM-A, JAM1, JAMA, JCAM, PAM-1 Yes No Comparative Toxicogenomics Database:50848, Ensembl:ENSG00000158769, GeneCard:F11R, HGNC:HGNC:14685, HumanCyc Gene:HS08326, ModBase:Q9Y624, NCBI Gene:50848, OMIM:605721, RefSeq DNA:NT_004487, RefSeq Protein:NP_058642, RefSeq RNA:NM_016946, UCSC Genome Browser:NM_016946, UniProtKB:Q6FIB4, UniProtKB:Q9Y624 No chr1 160965001 160991133 160995211 161021343 +PA161 2161 HGNC:3530 ENSG00000131187 coagulation factor XII F12 Plasma coagulation Factor XIIa, coagulation factor XII (Hageman factor) Yes Yes Comparative Toxicogenomics Database:2161, Ensembl:ENSG00000131187, GenAtlas:F12, GeneCard:F12, HGNC:HGNC:3530, HumanCyc Gene:HS05500, ModBase:P00748, NCBI Gene:2161, OMIM:234000, OMIM:610618, OMIM:610619, RefSeq DNA:NG_007568, RefSeq DNA:NT_023133, RefSeq Protein:NP_000496, RefSeq RNA:NM_000505, UCSC Genome Browser:NM_000505, UniProtKB:P00748, UniProtKB:Q8IZZ5 No chr5 176829139 176836577 177402138 177409576 +PA162 2162 HGNC:3531 ENSG00000124491 coagulation factor XIII A chain F13A1 coagulation factor XIII, A1 polypeptide F13A Yes Yes Comparative Toxicogenomics Database:2162, Ensembl:ENSG00000124491, GenAtlas:F13A1, GeneCard:F13A1, HGNC:HGNC:3531, HumanCyc Gene:HS04779, NCBI Gene:2162, OMIM:134570, OMIM:613225, RefSeq DNA:NG_008107, RefSeq DNA:NT_007592, RefSeq Protein:NP_000120, RefSeq RNA:NM_000129, UCSC Genome Browser:NM_000129, UniProtKB:P00488 No chr6 6144311 6320924 6144078 6320691 +PA27944 2165 HGNC:3534 ENSG00000143278 coagulation factor XIII B chain F13B coagulation factor XIII, B polypeptide FXIIIB Yes No Comparative Toxicogenomics Database:2165, Ensembl:ENSG00000143278, GenAtlas:F13B, GeneCard:F13B, HGNC:HGNC:3534, HumanCyc Gene:HS07018, ModBase:P05160, NCBI Gene:2165, OMIM:134580, RefSeq DNA:NG_012065, RefSeq DNA:NT_004487, RefSeq Protein:NP_001985, RefSeq RNA:NM_001994, UCSC Genome Browser:NM_001994, UniProtKB:P05160 No chr1 197007877 197036568 197038741 197067267 +PA157 2147 HGNC:3535 ENSG00000180210 coagulation factor II, thrombin F2 coagulation factor II (thrombin), prepro-coagulation factor II Yes Yes Comparative Toxicogenomics Database:2147, Ensembl:ENSG00000180210, GenAtlas:F2, GeneCard:F2, HGNC:HGNC:3535, HumanCyc Gene:HS11470, ModBase:P00734, NCBI Gene:2147, OMIM:176930, RefSeq DNA:NG_008953, RefSeq DNA:NT_009237, RefSeq Protein:NP_000497, RefSeq RNA:NM_000506, UCSC Genome Browser:NM_000506, UniProtKB:P00734 No chr11 46740743 46761056 46719166 46739508 +PA27946 2149 HGNC:3537 ENSG00000181104 coagulation factor II thrombin receptor F2R coagulation factor II (thrombin) receptor, protease activated receptor 1 CF2R, PAR-1, PAR1, TR Yes Yes Comparative Toxicogenomics Database:2149, Ensembl:ENSG00000181104, GenAtlas:F2R, GeneCard:F2R, HGNC:HGNC:3537, HumanCyc Gene:HS11575, IUPHAR Receptor:347, ModBase:P25116, NCBI Gene:2149, OMIM:187930, RefSeq DNA:NT_006713, RefSeq Protein:NP_001983, RefSeq RNA:NM_001992, UCSC Genome Browser:NM_001992, UniProtKB:P25116 No chr5 76011868 76031595 76716043 76735780 +PA27947 2150 HGNC:3538 ENSG00000164251 F2R like trypsin receptor 1 F2RL1 coagulation factor II (thrombin) receptor-like 1, proteinase-activated receptor-2 GPR11, PAR2 Yes Yes Comparative Toxicogenomics Database:2150, Ensembl:ENSG00000164251, GenAtlas:F2RL1, GeneCard:F2RL1, HGNC:HGNC:3538, HumanCyc Gene:HS09045, IUPHAR Receptor:348, ModBase:P55085, NCBI Gene:2150, OMIM:600933, RefSeq DNA:NT_006713, RefSeq Protein:NP_005233, RefSeq RNA:NM_005242, UCSC Genome Browser:NM_005242, UniProtKB:P55085, UniProtKB:Q53XJ8 No chr5 76114833 76131140 76819008 76835315 +PA27948 2151 HGNC:3539 ENSG00000164220 coagulation factor II thrombin receptor like 2 F2RL2 coagulation factor II (thrombin) receptor-like 2, proteinase-activated receptor-3 PAR3 Yes No Comparative Toxicogenomics Database:2151, Ensembl:ENSG00000164220, GenAtlas:F2RL2, GeneCard:F2RL2, HGNC:HGNC:3539, HumanCyc Gene:HS09042, IUPHAR Receptor:349, ModBase:O00254, NCBI Gene:2151, OMIM:601919, RefSeq DNA:NT_006713, RefSeq Protein:NP_004092, RefSeq RNA:NM_004101, UCSC Genome Browser:NM_004101, UniProtKB:O00254 No chr5 75911307 75919259 76615482 76623434 +PA27949 9002 HGNC:3540 ENSG00000127533 F2R like thrombin or trypsin receptor 3 F2RL3 coagulation factor II (thrombin) receptor-like 3, proteinase-activated receptor-4 PAR4 Yes No Comparative Toxicogenomics Database:9002, Ensembl:ENSG00000127533, GenAtlas:F2RL3, GeneCard:F2RL3, HGNC:HGNC:3540, HumanCyc Gene:HS05110, IUPHAR Receptor:350, ModBase:Q96RI0, NCBI Gene:9002, OMIM:602779, RefSeq DNA:NT_011295, RefSeq Protein:NP_003941, RefSeq RNA:NM_003950, UCSC Genome Browser:NM_003950, UniProtKB:Q96RI0 No chr19 16999826 17002830 16889015 16892019 +PA158 2152 HGNC:3541 ENSG00000117525 coagulation factor III, tissue factor F3 """coagulation factor III (thromboplastin, tissue factor)"", ""tissue factor""" CD142, TF Yes Yes Comparative Toxicogenomics Database:2152, Ensembl:ENSG00000117525, GenAtlas:F3, GeneCard:F3, HGNC:HGNC:3541, HumanCyc Gene:HS04145, ModBase:P13726, NCBI Gene:2152, OMIM:134390, RefSeq DNA:NT_032977, RefSeq Protein:NP_001171567, RefSeq Protein:NP_001984, RefSeq RNA:NM_001178096, RefSeq RNA:NM_001993, UCSC Genome Browser:NM_001993, UniProtKB:P13726, UniProtKB:Q86WH4 No chr1 94994732 95007413 94529176 94541857 +PA159 2153 HGNC:3542 ENSG00000198734 coagulation factor V F5 coagulation factor V (proaccelerin, labile factor) Yes Yes Comparative Toxicogenomics Database:2153, Ensembl:ENSG00000198734, GenAtlas:F5, GeneCard:F5, HGNC:HGNC:3542, ModBase:P12259, NCBI Gene:2153, OMIM:188055, OMIM:227400, OMIM:600880, OMIM:601367, OMIM:612309, RefSeq DNA:NG_011806, RefSeq DNA:NT_004487, RefSeq Protein:NP_000121, RefSeq RNA:NM_000130, UCSC Genome Browser:NM_000130, UniProtKB:P12259 No chr1 169481192 169555769 169511954 169586632 +PA160 2155 HGNC:3544 ENSG00000057593 coagulation factor VII F7 FVII coagulation protein, coagulation factor VII (serum prothrombin conversion accelerator), eptacog alfa, factor VII Yes Yes Comparative Toxicogenomics Database:2155, Ensembl:ENSG00000057593, GenAtlas:F7, GeneCard:F7, HGNC:HGNC:3544, HumanCyc Gene:HS00709, ModBase:P08709, NCBI Gene:2155, OMIM:227500, RefSeq DNA:NG_009262, RefSeq DNA:NT_027140, RefSeq Protein:NP_000122, RefSeq Protein:NP_062562, RefSeq RNA:NM_000131, RefSeq RNA:NM_019616, UCSC Genome Browser:NM_000131, UniProtKB:P08709 No chr13 113760102 113774995 113105773 113120681 +PA27951 2156 HGNC:3545 coagulation factor VII regulator F7R F7E Yes No GenAtlas:F7R, GeneCard:F7R, HGNC:HGNC:3545, NCBI Gene:2156, OMIM:134450 No chr8 +PA27952 2157 HGNC:3546 ENSG00000185010 coagulation factor VIII F8 """Factor VIIIF8B"", ""coagulation factor VIII, procoagulant component"", ""hemophilia A""" DXS1253E, F8C, FVIII, HEMA Yes No Comparative Toxicogenomics Database:2157, Ensembl:ENSG00000185010, GenAtlas:F8, GeneCard:F8, HGNC:HGNC:3546, ModBase:P00451, NCBI Gene:2157, OMIM:306700, RefSeq DNA:NG_005114, RefSeq DNA:NG_011403, RefSeq DNA:NT_167198, RefSeq Protein:NP_000123, RefSeq Protein:NP_063916, RefSeq RNA:NM_000132, RefSeq RNA:NM_019863, UCSC Genome Browser:NM_000132, UniProtKB:P00451, UniProtKB:Q14286 No chrX 154064063 154255351 154835788 155022723 +PA27953 8263 HGNC:3547 ENSG00000185990, ENSG00000197932, ENSG00000198444 coagulation factor VIII associated 1 F8A1 coagulation factor VIII-associated 1 DXS522E, F8A Yes No Ensembl:ENSG00000185990, Ensembl:ENSG00000197932, Ensembl:ENSG00000198444, GenAtlas:F8A1, GeneCard:F8A1, HGNC:HGNC:3547, NCBI Gene:8263, OMIM:305423, RefSeq DNA:NG_005114, RefSeq DNA:NT_167198, RefSeq Protein:NP_036283, RefSeq RNA:NM_012151, UCSC Genome Browser:NM_012151, UniProtKB:P23610 No chrX 154114635 154116336 154886360 154888061 +PA134939784 474383 HGNC:31849 ENSG00000288709 coagulation factor VIII associated 2 F8A2 coagulation factor VIII-associated 2 Yes No Ensembl:ENSG00000288709, GeneCard:F8A2, HGNC:HGNC:31849, NCBI Gene:474383, RefSeq DNA:NG_005114, RefSeq DNA:NT_167198, RefSeq Protein:NP_001007524, RefSeq RNA:NM_001007523 No chrX 154611764 154612879 155382115 155383230 +PA134947289 474384 HGNC:31850 ENSG00000277150 coagulation factor VIII associated 3 F8A3 coagulation factor VIII-associated 3 Yes No Ensembl:ENSG00000277150, GeneCard:F8A3, HGNC:HGNC:31850, NCBI Gene:474384, RefSeq DNA:NG_005114, RefSeq DNA:NT_167198, RefSeq Protein:NP_001007525, RefSeq RNA:NM_001007524 No chrX 154687146 154688261 155457485 155458600 +PA27954 2158 HGNC:3551 ENSG00000101981 coagulation factor IX F9 Christmas disease, Factor IX, hemophilia B, plasma thromboplastic component FIX Yes No Comparative Toxicogenomics Database:2158, Ensembl:ENSG00000101981, GenAtlas:F9, GeneCard:F9, HGNC:HGNC:3551, HumanCyc Gene:HS02329, ModBase:P00740, NCBI Gene:2158, OMIM:122700, OMIM:300746, OMIM:300807, OMIM:306900, RefSeq DNA:NG_007994, RefSeq DNA:NT_011786, RefSeq Protein:NP_000124, RefSeq RNA:NM_000133, UCSC Genome Browser:NM_000133, UniProtKB:P00740 No chrX 138612889 138645617 139530720 139563459 +PA145148065 79152 HGNC:21197 ENSG00000103089 fatty acid 2-hydroxylase FA2H Fatty acid alpha-hydroxylase, fatty acid hydroxylase FAAH, FAXDC1, FLJ25287, SPG35 Yes No Ensembl:ENSG00000103089, GeneCard:FA2H, HGNC:HGNC:21197, HumanCyc Gene:HS02454, ModBase:Q7L5A8, NCBI Gene:79152, OMIM:611026, OMIM:612319, OMIM:612443, RefSeq DNA:NG_017070, RefSeq DNA:NT_010498, RefSeq Protein:NP_077282, RefSeq RNA:NM_024306, UniProtKB:Q7L5A8 No chr16 74746853 74808729 74712955 74774831 +PA27955 2166 HGNC:3553 ENSG00000117480 fatty acid amide hydrolase FAAH FAAH-1, FAAH1 Yes Yes Comparative Toxicogenomics Database:2166, Ensembl:ENSG00000117480, GenAtlas:FAAH, GeneCard:FAAH, HGNC:HGNC:3553, HumanCyc Gene:HS04139, ModBase:O00519, NCBI Gene:2166, OMIM:602935, RefSeq DNA:NG_012195, RefSeq DNA:NT_032977, RefSeq Protein:NP_001432, RefSeq RNA:NM_001441, UCSC Genome Browser:NM_001441, UniProtKB:O00519, UniProtKB:Q9UG55 No chr1 46859939 46879520 46394267 46413848 +PA162385543 158584 HGNC:26440 ENSG00000165591 fatty acid amide hydrolase 2 FAAH2 AMDD, FAAH-2, FLJ31204, RP11-479E16.1 Yes No Ensembl:ENSG00000165591, GeneCard:FAAH2, HGNC:HGNC:26440, ModBase:Q6GMR7, NCBI Gene:158584, OMIM:300654, RefSeq DNA:NG_013232, RefSeq DNA:NT_011630, RefSeq Protein:NP_777572, RefSeq RNA:NM_174912, UniProtKB:B2C6G4, UniProtKB:Q6GMR7 No chrX 57313011 57515629 57121861 57489196 +PA142672253 80233 HGNC:26171 ENSG00000185504 FA core complex associated protein 100 FAAP100 """Fanconi anemia-associated protein, 100kDa"", ""chromosome 17 open reading frame 70""" C17orf70, FAAP100, FLJ22175 Yes No Ensembl:ENSG00000185504, GeneCard:C17orf70, HGNC:HGNC:26171, ModBase:Q0VG06, NCBI Gene:80233, OMIM:611301, RefSeq DNA:NT_010783, RefSeq Protein:NP_001103230, RefSeq Protein:NP_079437, RefSeq RNA:NM_001109760, RefSeq RNA:NM_025161, RefSeq RNA:NR_033338, UniProtKB:A4ZI32, UniProtKB:Q0VG06 No chr17 79506911 79519429 81539885 81552403 +PA142672470 199990 HGNC:26428 ENSG00000162585 FA core complex associated protein 20 FAAP20 chromosome 1 open reading frame 86 C1orf86, FAAP20, FLJ31031 Yes No Ensembl:ENSG00000162585, GeneCard:C1orf86, HGNC:HGNC:26428, NCBI Gene:199990, RefSeq DNA:NT_004350, RefSeq Protein:NP_001139782, RefSeq Protein:NP_872339, RefSeq RNA:NM_001146310, RefSeq RNA:NM_182533, UniProtKB:Q6NZ36, UniProtKB:Q6ZRT9 No chr1 2115899 2144159 2184460 2212720 +PA144596473 91442 HGNC:28467 ENSG00000131944 FA core complex associated protein 24 FAAP24 """Fanconi anemia-associated protein, 24kDa"", ""chromosome 19 open reading frame 40""" C19orf40, FAAP24, FLJ46828, MGC32020 Yes No Ensembl:ENSG00000131944, GeneCard:C19orf40, HGNC:HGNC:28467, HumanCyc Gene:HS13404, ModBase:Q9BTP7, NCBI Gene:91442, OMIM:610884, RefSeq DNA:NT_011109, RefSeq Protein:NP_689479, RefSeq RNA:NM_152266, UniProtKB:Q9BTP7 No chr19 33463140 33468401 32972212 32977495 +PA27956 2168 HGNC:3555 ENSG00000163586 fatty acid binding protein 1 FABP1 fatty acid binding protein 1, liver L-FABP Yes Yes Comparative Toxicogenomics Database:2168, Ensembl:ENSG00000163586, GenAtlas:FABP1, GeneCard:FABP1, HGNC:HGNC:3555, HumanCyc Gene:HS08886, ModBase:P07148, NCBI Gene:2168, OMIM:134650, RefSeq DNA:NT_022184, RefSeq Protein:NP_001434, RefSeq RNA:NM_001443, UCSC Genome Browser:NM_001443, UniProtKB:P07148, UniProtKB:Q6FGL7 No chr2 88422501 88427650 88122982 88128131 +PA164719513 646486 HGNC:34524 ENSG00000197416 fatty acid binding protein 12 FABP12 Yes No Ensembl:ENSG00000197416, GeneCard:FABP12, HGNC:HGNC:34524, NCBI Gene:646486, RefSeq DNA:NT_008183, RefSeq Protein:NP_001098751, RefSeq RNA:NM_001105281, UniProtKB:A6NFH5 No chr8 82437216 82446056 81524673 81590664 +PA27957 2169 HGNC:3556 ENSG00000145384 fatty acid binding protein 2 FABP2 fatty acid binding protein 2, intestinal I-FABP Yes Yes Comparative Toxicogenomics Database:2169, Ensembl:ENSG00000145384, GenAtlas:FABP2, GeneCard:FABP2, HGNC:HGNC:3556, HumanCyc Gene:HS07250, ModBase:P12104, NCBI Gene:2169, OMIM:134640, RefSeq DNA:NG_011444, RefSeq DNA:NT_016354, RefSeq Protein:NP_000125, RefSeq RNA:NM_000134, UCSC Genome Browser:NM_000134, UniProtKB:P12104 No chr4 120238405 120243316 119317250 119322161 +PA27958 2170 HGNC:3557 ENSG00000121769 fatty acid binding protein 3 FABP3 """fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)"", ""mammary-derived growth inhibitor""" FABP11, H-FABP, MDGI, O-FABP Yes No Comparative Toxicogenomics Database:2170, Ensembl:ENSG00000121769, GenAtlas:FABP3, GeneCard:FABP3, HGNC:HGNC:3557, HumanCyc Gene:HS04521, ModBase:P05413, NCBI Gene:2170, OMIM:134651, RefSeq DNA:NT_032977, RefSeq Protein:NP_004093, RefSeq RNA:NM_004102, UCSC Genome Browser:NM_004102, UniProtKB:P05413 No chr1 31838100 31845923 31359611 31373618 +PA27959 56677 HGNC:3558 ENSG00000233259 fatty acid binding protein 3, pseudogene 2 FABP3P2 FABP3-ps, FABP3P Yes No Ensembl:ENSG00000233259, GenAtlas:FABP3P2, GeneCard:FABP3P2, HGNC:HGNC:3558, NCBI Gene:56677, RefSeq DNA:NG_001286, RefSeq DNA:NT_024524 No chr13 42943250 42943893 42369028 42369721 +PA27960 2167 HGNC:3559 ENSG00000170323 fatty acid binding protein 4 FABP4 """adipocyte fatty acid binding protein"", ""fatty acid binding protein 4, adipocyte""" A-FABP, aP2 Yes No Comparative Toxicogenomics Database:2167, Ensembl:ENSG00000170323, GenAtlas:FABP4, GeneCard:FABP4, HGNC:HGNC:3559, HumanCyc Gene:HS10102, ModBase:P15090, NCBI Gene:2167, OMIM:600434, RefSeq DNA:NT_008183, RefSeq Protein:NP_001433, RefSeq RNA:NM_001442, UCSC Genome Browser:NM_001442, UniProtKB:P15090 No chr8 82390732 82395473 81478497 81483238 +PA27961 2171 HGNC:3560 ENSG00000164687 fatty acid binding protein 5 FABP5 fatty acid binding protein 5 (psoriasis-associated) E-FABP, KFABP, PA-FABP Yes No Comparative Toxicogenomics Database:2171, Ensembl:ENSG00000164687, GenAtlas:FABP5, GeneCard:FABP5, HGNC:HGNC:3560, HumanCyc Gene:HS09116, ModBase:Q01469, NCBI Gene:2171, OMIM:605168, RefSeq DNA:NT_008183, RefSeq DNA:NT_079596, RefSeq Protein:NP_001435, RefSeq RNA:NM_001444, UCSC Genome Browser:NM_001444, UniProtKB:Q01469 No chr8 82192718 82197012 81280483 81284777 +PA134992574 266699 HGNC:19328 ENSG00000240122 fatty acid binding protein 5 pseudogene 11 FABP5P11 Yes No Ensembl:ENSG00000240122, GeneCard:FABP5L1, HGNC:HGNC:19328, NCBI Gene:266699, RefSeq DNA:NG_002376, RefSeq DNA:NG_006997, RefSeq DNA:NT_011519, RefSeq DNA:NT_024524 No chr22 17075761 17076438 16594871 16595548 +PA134901344 729163 HGNC:31060 ENSG00000236044 fatty acid binding protein 5 pseudogene 2 FABP5P2 Yes No Ensembl:ENSG00000236044, GeneCard:FABP5P2, HGNC:HGNC:31060, NCBI Gene:729163, RefSeq DNA:NG_009322, RefSeq DNA:NT_024524 No chr13 52540833 52541476 51966681 51967340 +PA134876256 220832 HGNC:22573 ENSG00000241735 fatty acid binding protein 5 pseudogene 3 FABP5P3 TCAG_1781704 Yes No Ensembl:ENSG00000241735, GeneCard:FABP5P3, HGNC:HGNC:22573, NCBI Gene:220832, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq RNA:NR_002935 No chr7 152133980 152140101 152436895 152443016 +PA134909756 404766 HGNC:31061 ENSG00000229287 fatty acid binding protein 5 pseudogene 4 FABP5P4 Yes No Ensembl:ENSG00000229287, GeneCard:FABP5P4, HGNC:HGNC:31061, NCBI Gene:404766 No chr13 92832755 92833138 92180502 92180885 +PA134977936 100288964 HGNC:31068 ENSG00000213716 fatty acid binding protein 5 pseudogene 5 FABP5P5 Yes No Ensembl:ENSG00000213716, GeneCard:FABP5L5, HGNC:HGNC:31068, NCBI Gene:100288964 No chr5 95308671 95309158 95972967 95973454 +PA134969749 100130687 HGNC:31069 ENSG00000249919 fatty acid binding protein 5 pseudogene 6 FABP5P6 Yes No Ensembl:ENSG00000249919, GeneCard:FABP5P6, HGNC:HGNC:31069, NCBI Gene:100130687, RefSeq DNA:NG_008825, RefSeq DNA:NT_034772 No chr5 118890943 118891353 119555248 119555658 +PA134932566 728641 HGNC:31070 ENSG00000234964 fatty acid binding protein 5 pseudogene 7 FABP5P7 Yes No Ensembl:ENSG00000234964, GeneCard:FABP5P7, HGNC:HGNC:31070, NCBI Gene:728641, RefSeq DNA:NG_009321, RefSeq DNA:NT_167190 No chr11 59548580 59549224 59781103 59781751 +PA27962 2172 HGNC:3561 ENSG00000170231 fatty acid binding protein 6 FABP6 """fatty acid binding protein 6, ileal"", ""gastrotropin"", ""ileal bile acid binding protein"", ""illeal lipid-binding protein""" I-15P, I-BABP, I-BALB, I-BAP, ILBP, ILBP3, ILLBP Yes No Comparative Toxicogenomics Database:2172, Ensembl:ENSG00000170231, GenAtlas:FABP6, GeneCard:FABP6, HGNC:HGNC:3561, HumanCyc Gene:HS10085, ModBase:P51161, NCBI Gene:2172, OMIM:600422, RefSeq DNA:NT_023133, RefSeq Protein:NP_001035532, RefSeq Protein:NP_001124430, RefSeq Protein:NP_001436, RefSeq RNA:NM_001040442, RefSeq RNA:NM_001130958, RefSeq RNA:NM_001445, UCSC Genome Browser:NM_001445, UniProtKB:P51161 No chr5 159614374 159665729 160187367 160238722 +PA27963 2173 HGNC:3562 ENSG00000164434 fatty acid binding protein 7 FABP7 """brain lipid binding protein"", ""fatty acid binding protein 7, brain""" B-FABP, BLBP Yes No Comparative Toxicogenomics Database:2173, Ensembl:ENSG00000164434, GenAtlas:FABP7, GeneCard:FABP7, HGNC:HGNC:3562, HumanCyc Gene:HS09081, ModBase:O15540, NCBI Gene:2173, OMIM:602965, RefSeq DNA:NT_025741, RefSeq Protein:NP_001437, RefSeq RNA:NM_001446, UCSC Genome Browser:NM_001446, UniProtKB:O15540 No chr6 123100646 123105219 122749201 122784077 +PA27964 646480 HGNC:3563 ENSG00000205186 fatty acid binding protein 9 FABP9 """fatty acid binding protein 9, testis"", ""testis fatty acid binding protein""" PERF, PERF15, T-FABP Yes No Ensembl:ENSG00000205186, GenAtlas:FABP9, GeneCard:FABP9, HGNC:HGNC:3563, ModBase:Q0Z7S8, NCBI Gene:646480, RefSeq DNA:NT_008183, RefSeq Protein:NP_001073995, RefSeq RNA:NM_001080526, UniProtKB:Q0Z7S8 No chr8 82370618 82373758 81458383 81461523 +PA27972 8772 HGNC:3573 ENSG00000168040 Fas associated via death domain FADD Fas (TNFRSF6)-associated via death domain, Fas-associating death domain-containing protein, Fas-associating protein with death domain, growth-inhibiting gene 3 protein, mediator of receptor-induced toxicity GIG3, MORT1 Yes No Comparative Toxicogenomics Database:8772, Ensembl:ENSG00000168040, GenAtlas:FADD, GeneCard:FADD, HGNC:HGNC:3573, HumanCyc Gene:HS09684, ModBase:Q13158, NCBI Gene:8772, OMIM:602457, RefSeq DNA:NT_167190, RefSeq Protein:NP_003815, RefSeq RNA:NM_003824, UCSC Genome Browser:NM_003824, UniProtKB:Q13158 No chr11 70049269 70053508 70203163 70207402 +PA27973 3992 HGNC:3574 ENSG00000149485 fatty acid desaturase 1 FADS1 acyl-CoA (8-3)-desaturase, delta-5 desaturase D5D, FADS6, FADSD5, LLCDL1, TU12 Yes Yes Comparative Toxicogenomics Database:3992, Ensembl:ENSG00000149485, GenAtlas:FADS1, GeneCard:FADS1, HGNC:HGNC:3574, HumanCyc Gene:HS05917, ModBase:Q96T10, NCBI Gene:3992, OMIM:606148, RefSeq DNA:NT_167190, RefSeq Protein:NP_037534, RefSeq RNA:NM_013402, UCSC Genome Browser:NM_013402, UniProtKB:O60427 No chr11 61567097 61584529 61799625 61817057 +PA27974 9415 HGNC:3575 ENSG00000134824 fatty acid desaturase 2 FADS2 delta-6-desaturase D6D, DES6, FADSD6, LLCDL2, SLL0262, TU13 Yes No Comparative Toxicogenomics Database:9415, Ensembl:ENSG00000134824, GenAtlas:FADS2, GeneCard:FADS2, HGNC:HGNC:3575, HumanCyc Gene:HS05918, ModBase:O95864, NCBI Gene:9415, OMIM:606149, RefSeq DNA:NT_167190, RefSeq Protein:NP_004256, RefSeq RNA:NM_004265, UCSC Genome Browser:NM_004265, UniProtKB:O95864 No chr11 61583675 61634826 61816203 61867354 +PA27975 3995 HGNC:3576 ENSG00000221968 fatty acid desaturase 3 FADS3 delta-9-desaturase CYB5RP, LLCDL3 Yes No Comparative Toxicogenomics Database:3995, Ensembl:ENSG00000221968, GenAtlas:FADS3, GeneCard:FADS3, HGNC:HGNC:3576, HumanCyc Gene:HS07617, ModBase:Q9Y5Q0, NCBI Gene:3995, OMIM:606150, RefSeq DNA:NT_167190, RefSeq Protein:NP_068373, RefSeq RNA:NM_021727, UCSC Genome Browser:NM_021727, UniProtKB:Q9Y5Q0 No chr11 61640998 61659006 61873523 61892224 +PA134883572 283985 HGNC:30459 ENSG00000172782 fatty acid desaturase 6 FADS6 Yes No Ensembl:ENSG00000172782, GeneCard:FADS6, HGNC:HGNC:30459, NCBI Gene:283985, RefSeq DNA:NT_010783, RefSeq Protein:NP_835229, RefSeq RNA:NM_178128, UniProtKB:Q8N9I5 No chr17 72873451 72889737 74874793 74893811 +PA27976 11124 HGNC:3578 ENSG00000185104 Fas associated factor 1 FAF1 Fas (TNFRSF6) associated factor 1, TNFRSF6-associated factor 1, UBX domain protein 3A CGI-03, HFAF1s, UBXD12, UBXN3A, hFAF1 Yes No Comparative Toxicogenomics Database:11124, Ensembl:ENSG00000185104, GenAtlas:FAF1, GeneCard:FAF1, HGNC:HGNC:3578, ModBase:Q9UNN5, NCBI Gene:11124, OMIM:604460, RefSeq DNA:NT_032977, RefSeq Protein:NP_008982, RefSeq RNA:NM_007051, UCSC Genome Browser:NM_007051, UniProtKB:Q549F0, UniProtKB:Q9UNN5 No chr1 50906935 51425936 50441263 50960264 +PA162385570 23197 HGNC:24666 ENSG00000113194 Fas associated factor family member 2 FAF2 UBX domain protein 3B, expressed in T cells and eosinophils in atopic dermatitis ETEA, KIAA0887, UBXD8, UBXN3B Yes No Ensembl:ENSG00000113194, GeneCard:FAF2, HGNC:HGNC:24666, HumanCyc Gene:HS12787, ModBase:Q96CS3, NCBI Gene:23197, RefSeq DNA:NT_023133, RefSeq Protein:NP_055428, RefSeq RNA:NM_014613, UniProtKB:Q96CS3 No chr5 175875356 175937075 176448333 176510074 +PA27977 2184 HGNC:3579 ENSG00000103876 fumarylacetoacetate hydrolase FAH fumarylacetoacetase, fumarylacetoacetate hydrolase (fumarylacetoacetase) Yes No Comparative Toxicogenomics Database:2184, Ensembl:ENSG00000103876, GenAtlas:FAH, GeneCard:FAH, HGNC:HGNC:3579, HumanCyc Gene:HS02536, ModBase:P16930, NCBI Gene:2184, OMIM:276700, RefSeq DNA:NG_012833, RefSeq DNA:NT_010194, RefSeq Protein:NP_000128, RefSeq RNA:NM_000137, UCSC Genome Browser:NM_000137, UniProtKB:P16930 No chr15 80445233 80478924 80152891 80186582 +PA25551 81889 HGNC:14169 ENSG00000180185 fumarylacetoacetate hydrolase domain containing 1 FAHD1 acylpyruvate hydrolase C16orf36, DKFZP566J2046 Yes No Comparative Toxicogenomics Database:81889, Ensembl:ENSG00000180185, GenAtlas:FAHD1, GeneCard:FAHD1, HGNC:HGNC:14169, HumanCyc Gene:HS11463, ModBase:Q6P587, NCBI Gene:81889, RefSeq DNA:NT_010393, RefSeq Protein:NP_001018114, RefSeq Protein:NP_001135870, RefSeq Protein:NP_112485, RefSeq RNA:NM_001018104, RefSeq RNA:NM_001142398, RefSeq RNA:NM_031208, UniProtKB:B1AK40, UniProtKB:Q6P587 No chr16 1877225 1890208 1827224 1840207 +PA134860971 51011 HGNC:24252 ENSG00000115042 fumarylacetoacetate hydrolase domain containing 2A FAHD2A CGI-105 Yes No Comparative Toxicogenomics Database:51011, Ensembl:ENSG00000115042, GeneCard:FAHD2A, HGNC:HGNC:24252, HumanCyc Gene:HS03827, ModBase:Q96GK7, NCBI Gene:51011, RefSeq DNA:NT_022171, RefSeq Protein:NP_057128, RefSeq RNA:NM_016044, UniProtKB:Q96GK7 No chr2 96068439 96082357 95402691 95416702 +PA162385597 151313 HGNC:25318 ENSG00000144199 fumarylacetoacetate hydrolase domain containing 2B FAHD2B DKFZp434N062 Yes No Ensembl:ENSG00000144199, GeneCard:FAHD2B, HGNC:HGNC:25318, ModBase:Q6P2I3, NCBI Gene:151313, RefSeq DNA:NT_022171, RefSeq Protein:NP_955368, RefSeq RNA:NM_199336, UniProtKB:Q6P2I3 No chr2 97749320 97760603 97080738 97094882 +PA142671898 729610 HGNC:32441 ENSG00000257302 fumarylacetoacetate hydrolase domain containing 2 pseudogene 1 FAHD2P1 Yes No Ensembl:ENSG00000257302, GeneCard:FAHD2P1, HGNC:HGNC:32441, NCBI Gene:729610, RefSeq DNA:NG_006649, RefSeq DNA:NT_029419 No chr12 71065569 71066812 70671789 70673032 +PA38647 55179 HGNC:18703 ENSG00000158234 Fas apoptotic inhibitory molecule FAIM FAIM1, FLJ10582 Yes No Comparative Toxicogenomics Database:55179, Ensembl:ENSG00000158234, GenAtlas:FAIM, GeneCard:FAIM, HGNC:HGNC:18703, HumanCyc Gene:HS14706, NCBI Gene:55179, RefSeq DNA:NT_005612, RefSeq Protein:NP_001028202, RefSeq Protein:NP_001028203, RefSeq Protein:NP_001028204, RefSeq Protein:NP_060617, RefSeq RNA:NM_001033030, RefSeq RNA:NM_001033031, RefSeq RNA:NM_001033032, RefSeq RNA:NM_018147, UCSC Genome Browser:NM_018147, UniProtKB:Q9NVQ4 No chr3 138327542 138352218 138608163 138633376 +PA134879081 23017 HGNC:17067 ENSG00000135472 Fas apoptotic inhibitory molecule 2 FAIM2 transmembrane BAX inhibitor motif containing 2 KIAA0950, LFG, LFG2, LIFEGUARD, NMP35, TMBIM2 Yes Yes Comparative Toxicogenomics Database:23017, Ensembl:ENSG00000135472, GeneCard:FAIM2, HGNC:HGNC:17067, HumanCyc Gene:HS06014, ModBase:Q9BWQ8, NCBI Gene:23017, OMIM:604306, RefSeq DNA:NT_029419, RefSeq Protein:NP_036438, RefSeq RNA:NM_012306, UniProtKB:Q9BWQ8 No chr12 50260679 50297760 49866896 49904275 +PA142671790 80039 HGNC:25682 ENSG00000273018 family with sequence similarity 106 member A FAM106A family with sequence similarity 106, member A FLJ11800 Yes No Comparative Toxicogenomics Database:80039, Ensembl:ENSG00000273018, GeneCard:FAM106A, HGNC:HGNC:25682, ModBase:Q4KMX7, NCBI Gene:80039, RefSeq DNA:NT_010718, RefSeq RNA:NR_026809 No chr17 18427880 18430160 18524566 18526846 +PA142671791 100996259 HGNC:32450 family with sequence similarity 106, member B FAM106B Yes No GeneCard:FAM106B, HGNC:HGNC:32450, NCBI Gene:100996259, RefSeq DNA:NT_010718, RefSeq Protein:XP_496191, RefSeq RNA:XM_496191 No chr17 20320625 20321742 20417292 20419050 +PA143485464 11170 HGNC:30827 ENSG00000168309 family with sequence similarity 107 member A FAM107A """down-regulated in renal cell carcinoma"", ""family with sequence similarity 107, member A""" DRR1, TU3A Yes No Comparative Toxicogenomics Database:11170, Ensembl:ENSG00000168309, GeneCard:FAM107A, HGNC:HGNC:30827, HumanCyc Gene:HS09733, NCBI Gene:11170, OMIM:608295, RefSeq DNA:NT_022517, RefSeq Protein:NP_001070246, RefSeq Protein:NP_009108, RefSeq RNA:NM_001076778, RefSeq RNA:NM_007177, UniProtKB:O95990, UniProtKB:Q6IAM1 No chr3 58549841 58613337 58564112 58627610 +PA134902915 83641 HGNC:23726 ENSG00000065809 family with sequence similarity 107 member B FAM107B """family with sequence similarity 107, member B"", ""heat shock-inducible tumor small protein""" C10orf45, FLJ45505, HITS, MGC11034 Yes No Comparative Toxicogenomics Database:83641, Ensembl:ENSG00000065809, GeneCard:FAM107B, HGNC:HGNC:23726, HumanCyc Gene:HS12176, NCBI Gene:83641, RefSeq DNA:NT_008705, RefSeq Protein:NP_113641, RefSeq RNA:NM_031453, UniProtKB:Q9H098 No chr10 14560556 14816896 14518557 14774897 +PA162385650 83541 HGNC:16188 ENSG00000125898 family with sequence similarity 110 member A FAM110A family with sequence similarity 110, member A C20orf55, bA371L19.3 Yes No Ensembl:ENSG00000125898, GeneCard:FAM110A, HGNC:HGNC:16188, HumanCyc Gene:HS13185, ModBase:Q9BQ89, NCBI Gene:83541, OMIM:611393, RefSeq DNA:NT_011387, RefSeq Protein:NP_001035812, RefSeq Protein:NP_113612, RefSeq Protein:NP_997004, RefSeq RNA:NM_001042353, RefSeq RNA:NM_031424, RefSeq RNA:NM_207121, UniProtKB:Q9BQ89 No chr20 814354 826922 833697 846279 +PA162385659 90362 HGNC:28587 ENSG00000169122 family with sequence similarity 110 member B FAM110B family with sequence similarity 110, member B C8orf72, MGC39325 Yes No Ensembl:ENSG00000169122, GeneCard:FAM110B, HGNC:HGNC:28587, HumanCyc Gene:HS15748, ModBase:Q8TC76, NCBI Gene:90362, OMIM:611394, RefSeq DNA:NT_008183, RefSeq Protein:NP_671722, RefSeq RNA:NM_147189, UniProtKB:B3KRT5, UniProtKB:Q8TC76 No chr8 58907068 59062277 57994444 58149718 +PA162385674 642273 HGNC:33340 ENSG00000184731 family with sequence similarity 110 member C FAM110C family with sequence similarity 110, member C Yes No Ensembl:ENSG00000184731, GeneCard:FAM110C, HGNC:HGNC:33340, ModBase:Q1W6H9, NCBI Gene:642273, OMIM:611395, RefSeq DNA:NT_022221, RefSeq Protein:NP_001071178, RefSeq RNA:NM_001077710, UniProtKB:Q1W6H9 No chr2 38814 47042 38814 47077 +PA142671706 79927 HGNC:25860 ENSG00000197245 family with sequence similarity 110 member D FAM110D family with sequence similarity 110, member D FLJ14050, GRRP1 Yes No Comparative Toxicogenomics Database:79927, Ensembl:ENSG00000197245, GeneCard:GRRP1, HGNC:HGNC:25860, ModBase:Q8TAY7, NCBI Gene:79927, RefSeq DNA:NT_004610, RefSeq Protein:NP_079145, RefSeq RNA:NM_024869, UniProtKB:Q8TAY7 No chr1 26485511 26489119 26159020 26162628 +PA143485468 63901 HGNC:24725 ENSG00000166801 FAM111 trypsin like peptidase A FAM111A """family with sequence similarity 111 member A"", ""family with sequence similarity 111, member A""" FLJ22794, KIAA1895 Yes No Ensembl:ENSG00000166801, GeneCard:FAM111A, HGNC:HGNC:24725, ModBase:Q96PZ2, NCBI Gene:63901, RefSeq DNA:NT_167190, RefSeq Protein:NP_001135991, RefSeq Protein:NP_001135992, RefSeq Protein:NP_001135993, RefSeq Protein:NP_071357, RefSeq Protein:NP_942144, RefSeq RNA:NM_001142519, RefSeq RNA:NM_001142520, RefSeq RNA:NM_001142521, RefSeq RNA:NM_022074, RefSeq RNA:NM_198847, UniProtKB:Q96PZ2 No chr11 58910219 58922512 59142746 59155039 +PA143485469 374393 HGNC:24200 ENSG00000189057 FAM111 trypsin like peptidase B FAM111B """family with sequence similarity 111 member B"", ""family with sequence similarity 111, member B""" CANP Yes No Ensembl:ENSG00000189057, GeneCard:FAM111B, HGNC:HGNC:24200, ModBase:Q6SJ93, NCBI Gene:374393, RefSeq DNA:NT_167190, RefSeq Protein:NP_001136175, RefSeq Protein:NP_001136176, RefSeq Protein:NP_945185, RefSeq RNA:NM_001142703, RefSeq RNA:NM_001142704, RefSeq RNA:NM_198947, UniProtKB:Q6SJ93 No chr11 58874658 58894888 59107185 59127415 +PA162385681 92689 HGNC:25087 ENSG00000197712 family with sequence similarity 114 member A1 FAM114A1 family with sequence similarity 114, member A1 Noxp20 Yes No Ensembl:ENSG00000197712, GeneCard:FAM114A1, HGNC:HGNC:25087, ModBase:Q8IWE2, NCBI Gene:92689, RefSeq DNA:NT_016297, RefSeq Protein:NP_612398, RefSeq RNA:NM_138389, RefSeq RNA:NR_033290, UniProtKB:Q8IWE2 No chr4 38869354 38947365 38867733 38945744 +PA162385716 10827 HGNC:1333 ENSG00000055147 family with sequence similarity 114 member A2 FAM114A2 family with sequence similarity 114, member A2 133K02, C5orf3 Yes No Ensembl:ENSG00000055147, GeneCard:FAM114A2, HGNC:HGNC:1333, HumanCyc Gene:HS00682, NCBI Gene:10827, RefSeq DNA:NT_029289, RefSeq Protein:NP_061161, RefSeq RNA:NM_018691, UniProtKB:Q9NRY5 No chr5 153369723 153418497 153990131 154038938 +PA145008393 81558 HGNC:24179 ENSG00000121104 family with sequence similarity 117 member A FAM117A """C/EBP induced protein"", ""family with sequence similarity 117, member A""" Yes No Ensembl:ENSG00000121104, GeneCard:FAM117A, HGNC:HGNC:24179, HumanCyc Gene:HS13012, NCBI Gene:81558, RefSeq DNA:NT_010783, RefSeq Protein:NP_110429, RefSeq RNA:NM_030802, UniProtKB:Q9C073 No chr17 47787687 47841518 49710325 49764156 +PA164719514 150864 HGNC:14440 ENSG00000138439 family with sequence similarity 117 member B FAM117B family with sequence similarity 117, member B ALS2CR13, FLJ38771 Yes No Ensembl:ENSG00000138439, GeneCard:FAM117B, HGNC:HGNC:14440, HumanCyc Gene:HS13726, NCBI Gene:150864, RefSeq DNA:NT_005403, RefSeq Protein:NP_775782, RefSeq RNA:NM_173511, UniProtKB:Q6P1L5, UniProtKB:Q7Z3M2 No chr2 203499901 203634480 202635178 202769757 +PA25890 55007 HGNC:1313 ENSG00000100376 family with sequence similarity 118 member A FAM118A family with sequence similarity 118, member A C22orf8, FLJ20635, bK268H5.C22.4 Yes No Ensembl:ENSG00000100376, GenAtlas:FAM118A, GeneCard:FAM118A, HGNC:HGNC:1313, HumanCyc Gene:HS12405, ModBase:Q9NWS6, NCBI Gene:55007, RefSeq DNA:NT_011520, RefSeq Protein:NP_001098065, RefSeq Protein:NP_060381, RefSeq RNA:NM_001104595, RefSeq RNA:NM_017911, UniProtKB:Q9NWS6 No chr22 45705081 45737836 45309200 45341955 +PA145008413 79607 HGNC:26110 ENSG00000197798 family with sequence similarity 118 member B FAM118B family with sequence similarity 118, member B FLJ21103 Yes No Ensembl:ENSG00000197798, GeneCard:FAM118B, HGNC:HGNC:26110, NCBI Gene:79607, RefSeq DNA:NG_017156, RefSeq DNA:NT_033899, RefSeq Protein:NP_078832, RefSeq RNA:NM_024556, UniProtKB:Q9BPY3 No chr11 126081619 126132879 126211414 126264540 +PA134954136 23196 HGNC:13247 ENSG00000048828 family with sequence similarity 120 member A FAM120A DNA polymerase-transactivated protein 1, family with sequence similarity 120A, oxidative stess-associated Src activator, oxidative stress-associated Src activator C9orf10, DNAPTP1, KIAA0183, OSSA Yes No Ensembl:ENSG00000048828, GeneCard:FAM120A, HGNC:HGNC:13247, HumanCyc Gene:HS12115, ModBase:Q96I21, NCBI Gene:23196, OMIM:612265, RefSeq DNA:NT_008470, RefSeq Protein:NP_055427, RefSeq RNA:NM_014612, UniProtKB:Q9NZB2 No chr9 96214173 96328397 93451696 93566115 +PA134893278 158293 HGNC:23389 ENSG00000188938 family with sequence similarity 120 member A opposite strand FAM120AOS family with sequence similarity 120A opposite strand C9orf10OS Yes No Ensembl:ENSG00000188938, GeneCard:FAM120AOS, HGNC:HGNC:23389, ModBase:Q5T036, NCBI Gene:158293, RefSeq DNA:NT_008470, RefSeq Protein:NP_942138, RefSeq RNA:NM_198841, UniProtKB:Q5T036 No chr9 96208776 96215874 93446500 93453592 +PA134920525 84498 HGNC:21109 ENSG00000112584 family with sequence similarity 120 member B FAM120B PPARgamma constitutive coactivator 1, constitutive coactivator of PPAR-gamma, family with sequence similarity 120B, senataxin-associated nuclease 1 CCPG, KIAA1838, PGCC1, SAN1 Yes No Ensembl:ENSG00000112584, GeneCard:FAM120B, HGNC:HGNC:21109, HumanCyc Gene:HS03592, ModBase:Q96EK7, NCBI Gene:84498, OMIM:612266, RefSeq DNA:NT_025741, RefSeq Protein:NP_115824, RefSeq RNA:NM_032448, UniProtKB:Q96EK7 No chr6 170615812 170716155 170290703 170407748 +PA134932227 54954 HGNC:16949 ENSG00000184083 family with sequence similarity 120 member C FAM120C family with sequence similarity 120C CXorf17, FLJ20506, ORF34 Yes No Ensembl:ENSG00000184083, GeneCard:FAM120C, HGNC:HGNC:16949, ModBase:Q9NX05, NCBI Gene:54954, OMIM:300741, RefSeq DNA:NG_021316, RefSeq DNA:NT_011630, RefSeq Protein:NP_060318, RefSeq Protein:NP_940858, RefSeq RNA:NM_017848, RefSeq RNA:NM_198456, UniProtKB:Q9NX05 No chrX 54094757 54209714 54068324 54183281 +PA162385800 220108 HGNC:26413 ENSG00000150510 family with sequence similarity 124 member A FAM124A family with sequence similarity 124A FLJ30707 Yes No Ensembl:ENSG00000150510, GeneCard:FAM124A, HGNC:HGNC:26413, HumanCyc Gene:HS14324, NCBI Gene:220108, RefSeq DNA:NT_024524, RefSeq Protein:NP_001229241, RefSeq Protein:NP_659456, RefSeq RNA:NM_001242312, RefSeq RNA:NM_145019, UniProtKB:Q86V42 No chr13 51796470 51858377 51222328 51284241 +PA162385815 79843 HGNC:26224 ENSG00000124019 family with sequence similarity 124 member B FAM124B family with sequence similarity 124B FLJ22746 Yes No Ensembl:ENSG00000124019, GeneCard:FAM124B, HGNC:HGNC:26224, HumanCyc Gene:HS13104, NCBI Gene:79843, RefSeq DNA:NT_005403, RefSeq Protein:NP_001116251, RefSeq Protein:NP_079061, RefSeq RNA:NM_001122779, RefSeq RNA:NM_024785, UniProtKB:Q9H5Z6 No chr2 225243415 225266711 224378698 224401994 +PA162386054 131408 HGNC:28308 ENSG00000175182 family with sequence similarity 131 member A FAM131A family with sequence similarity 131, member A C3orf40, MGC21688 Yes No Ensembl:ENSG00000175182, GeneCard:FAM131A, HGNC:HGNC:28308, HumanCyc Gene:HS16443, ModBase:Q6UXB0, NCBI Gene:131408, RefSeq DNA:NT_005612, RefSeq Protein:NP_001164564, RefSeq Protein:NP_653236, RefSeq RNA:NM_001171093, RefSeq RNA:NM_144635, UniProtKB:Q6UXB0 No chr3 184053717 184064063 184335924 184346275 +PA162386065 9715 HGNC:22202 ENSG00000159784 family with sequence similarity 131 member B FAM131B family with sequence similarity 131, member B KIAA0773 Yes No Ensembl:ENSG00000159784, GeneCard:FAM131B, HGNC:HGNC:22202, HumanCyc Gene:HS14783, NCBI Gene:9715, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001026860, RefSeq Protein:NP_055505, RefSeq RNA:NM_001031690, RefSeq RNA:NM_014690, UniProtKB:Q86XD5 No chr7 143050493 143079397 143353400 143382304 +PA162386082 348487 HGNC:26717 ENSG00000185519 family with sequence similarity 131 member C FAM131C family with sequence similarity 131, member C C1orf117, FLJ36766 Yes No Ensembl:ENSG00000185519, GeneCard:FAM131C, HGNC:HGNC:26717, NCBI Gene:348487, RefSeq DNA:NT_004610, RefSeq Protein:NP_872429, RefSeq RNA:NM_182623, UniProtKB:Q96AQ9 No chr1 16384264 16400127 16057769 16073632 +PA162386125 286499 HGNC:26748 ENSG00000179083 family with sequence similarity 133 member A FAM133A """cancer/testis antigen 115"", ""family with sequence similarity 133, member A""" CT115, FLJ37659, RP1-32F7.2 Yes No Ensembl:ENSG00000179083, GeneCard:FAM133A, HGNC:HGNC:26748, HumanCyc Gene:HS17198, ModBase:Q8N9E0, NCBI Gene:286499, RefSeq DNA:NG_016400, RefSeq DNA:NT_011651, RefSeq Protein:NP_001164580, RefSeq Protein:NP_001164581, RefSeq Protein:NP_001164582, RefSeq Protein:NP_775969, RefSeq RNA:NM_001171109, RefSeq RNA:NM_001171110, RefSeq RNA:NM_001171111, RefSeq RNA:NM_173698, UniProtKB:Q8N9E0 No chrX 92929012 92967273 93673730 93712274 +PA162386138 257415 HGNC:28629 ENSG00000234545 family with sequence similarity 133 member B FAM133B family with sequence similarity 133, member B MGC40405 Yes No Ensembl:ENSG00000234545, GeneCard:FAM133B, HGNC:HGNC:28629, ModBase:Q5BKY9, NCBI Gene:257415, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001035146, RefSeq Protein:NP_690002, RefSeq RNA:NM_001040057, RefSeq RNA:NM_152789, UniProtKB:Q5BKY9 No chr7 92190072 92219706 92560758 92590394 +PA162386230 57579 HGNC:21084 ENSG00000082269 family with sequence similarity 135 member A FAM135A family with sequence similarity 135, member A FLJ20176, KIAA1411 Yes No Ensembl:ENSG00000082269, GeneCard:FAM135A, HGNC:HGNC:21084, HumanCyc Gene:HS01419, ModBase:Q9NU48, NCBI Gene:57579, RefSeq DNA:NT_007299, RefSeq Protein:NP_001099001, RefSeq Protein:NP_001156001, RefSeq Protein:NP_065870, RefSeq RNA:NM_001105531, RefSeq RNA:NM_001162529, RefSeq RNA:NM_020819, UniProtKB:Q9P2D6 No chr6 71123107 71270877 70413404 70561174 +PA162386277 51059 HGNC:28029 ENSG00000147724 family with sequence similarity 135 member B FAM135B family with sequence similarity 135, member B C8ORFK32 Yes No Ensembl:ENSG00000147724, GeneCard:FAM135B, HGNC:HGNC:28029, HumanCyc Gene:HS12252, ModBase:Q49AJ0, NCBI Gene:51059, RefSeq DNA:NT_008046, RefSeq Protein:NP_056996, RefSeq RNA:NM_015912, UniProtKB:Q49AJ0 No chr8 139142266 139509065 138130023 138498390 +PA162386322 84908 HGNC:25911 ENSG00000035141 family with sequence similarity 136 member A FAM136A """family with sequence similarity 136, member A"", ""hypothetical protein FLJ14668""" FLJ14668 Yes No Ensembl:ENSG00000035141, GeneCard:FAM136A, HGNC:HGNC:25911, HumanCyc Gene:HS12083, NCBI Gene:84908, RefSeq DNA:NT_022184, RefSeq Protein:NP_116211, RefSeq RNA:NM_032822, UniProtKB:Q96C01 No chr2 70523108 70529293 70295976 70302088 +PA162386333 387071 HGNC:21110 ENSG00000232654 family with sequence similarity 136, member B, pseudogene FAM136BP dJ40E16.3 Yes No Ensembl:ENSG00000232654, GeneCard:FAM136BP, HGNC:HGNC:21110, NCBI Gene:387071, RefSeq DNA:NT_007592, RefSeq Protein:NP_001013001, RefSeq RNA:NM_001012983 No chr6 3045618 3046034 3045363 3046000 +PA164719535 645520 HGNC:32334 ENSG00000237613 family with sequence similarity 138, member A FAM138A F379 Yes No Ensembl:ENSG00000237613, GeneCard:FAM138A, HGNC:HGNC:32334, NCBI Gene:645520, RefSeq DNA:NT_077402, RefSeq RNA:NR_026818 No chr1 34611 36081 34611 36081 +PA164719536 654412 HGNC:33582 ENSG00000226516 family with sequence similarity 138, member B FAM138B F379 Yes No Ensembl:ENSG00000226516, GeneCard:FAM138B, HGNC:HGNC:33582, NCBI Gene:654412, RefSeq DNA:NT_022135, RefSeq RNA:NR_026821 No chr2 114334959 114336429 113577382 113578852 +PA164719537 654835 HGNC:32333 ENSG00000218839 family with sequence similarity 138, member C FAM138C F379 Yes No Ensembl:ENSG00000218839, GeneCard:FAM138C, HGNC:HGNC:32333, NCBI Gene:654835, RefSeq DNA:NT_008413, RefSeq RNA:NR_026822 No chr9 34394 35864 34394 35864 +PA164719538 677784 HGNC:33583 ENSG00000249054 family with sequence similarity 138, member D FAM138D F379 Yes No Ensembl:ENSG00000249054, GeneCard:FAM138D, HGNC:HGNC:33583, NCBI Gene:677784, RefSeq DNA:NT_009759, RefSeq RNA:NR_026823 No chr12 147946 149412 36661 38133 +PA164719539 100124412 HGNC:32335 ENSG00000248893 family with sequence similarity 138, member E FAM138E F379 Yes No Ensembl:ENSG00000248893, GeneCard:FAM138E, HGNC:HGNC:32335, NCBI Gene:100124412, RefSeq DNA:NT_010274, RefSeq RNA:NR_026819 No chr15 102495088 102496558 101954885 101956355 +PA164719540 641702 HGNC:33581 ENSG00000282591 family with sequence similarity 138, member F FAM138F F379 Yes No Ensembl:ENSG00000282591, GeneCard:FAM138F, HGNC:HGNC:33581, NCBI Gene:641702, RefSeq DNA:NT_011255, RefSeq RNA:NR_026820 No chr19 76220 77690 76220 77690 +PA164719541 10144 HGNC:19367 ENSG00000138640 family with sequence similarity 13 member A FAM13A family with sequence similarity 13, member A ARHGAP48, FAM13A1, KIAA0914 Yes No Ensembl:ENSG00000138640, GeneCard:FAM13A, HGNC:HGNC:19367, HumanCyc Gene:HS13737, NCBI Gene:10144, OMIM:613299, RefSeq DNA:NT_016354, RefSeq Protein:NP_001015045, RefSeq Protein:NP_055698, RefSeq RNA:NM_001015045, RefSeq RNA:NM_014883, UniProtKB:O94988 No chr4 89647105 90032549 88725954 89111398 +PA164719594 285512 HGNC:19370 ENSG00000248019 FAM13A antisense RNA 1 FAM13A-AS1 non-protein coding RNA 39 NCRNA00039 Yes No Ensembl:ENSG00000248019, GeneCard:FAM13AOS, HGNC:HGNC:19370, NCBI Gene:285512, OMIM:613300, RefSeq DNA:NT_016354, RefSeq RNA:NR_002806 No chr4 89630940 89651254 88709789 88730103 +PA25916 51306 HGNC:1335 ENSG00000031003 family with sequence similarity 13 member B FAM13B family with sequence similarity 13, member B ARHGAP49, C5orf5, FAM13B1, KHCHP, N61 Yes No Ensembl:ENSG00000031003, GenAtlas:C5orf5, GeneCard:C5orf5, GeneCard:FAM13B, HGNC:HGNC:1335, HumanCyc Gene:HS12077, ModBase:Q9NYF5, NCBI Gene:51306, OMIM:609371, RefSeq DNA:NT_034772, RefSeq Protein:NP_001095270, RefSeq Protein:NP_001095271, RefSeq Protein:NP_057687, RefSeq RNA:NM_001101800, RefSeq RNA:NM_001101801, RefSeq RNA:NM_016603, UCSC Genome Browser:NM_016603, UniProtKB:Q3ZCR0, UniProtKB:Q9NYF5 No chr5 137273638 137387650 137937909 138051961 +PA164719657 220965 HGNC:19371 ENSG00000148541 family with sequence similarity 13 member C FAM13C family with sequence similarity 13, member C FAM13C1 Yes No Ensembl:ENSG00000148541, GeneCard:FAM13C, HGNC:HGNC:19371, HumanCyc Gene:HS14249, NCBI Gene:220965, RefSeq DNA:NT_030059, RefSeq Protein:NP_001001971, RefSeq Protein:NP_001137245, RefSeq Protein:NP_001160170, RefSeq Protein:NP_937858, RefSeq RNA:NM_001001971, RefSeq RNA:NM_001143773, RefSeq RNA:NM_001166698, RefSeq RNA:NM_198215, UniProtKB:A8K181, UniProtKB:B4DSU7, UniProtKB:B7ZB77, UniProtKB:Q8NE31 No chr10 61005889 61122661 59245933 59363186 +PA162386366 25854 HGNC:24527 ENSG00000109794 family with sequence similarity 149 member A FAM149A family with sequence similarity 149, member A DKFZP564J102, MST119, MSTP119 Yes No Ensembl:ENSG00000109794, GeneCard:FAM149A, HGNC:HGNC:24527, NCBI Gene:25854, RefSeq DNA:NT_016354, RefSeq Protein:NP_001006656, RefSeq Protein:NP_056213, RefSeq RNA:NM_001006655, RefSeq RNA:NM_015398, UniProtKB:A5PLN7 No chr4 187026054 187093817 186104798 186172663 +PA162386399 317662 HGNC:29162 ENSG00000138286 family with sequence similarity 149 member B1 FAM149B1 family with sequence similarity 149, member B1 KIAA0974 Yes No Ensembl:ENSG00000138286, GeneCard:FAM149B1, HGNC:HGNC:29162, ModBase:Q96BN6, NCBI Gene:317662, RefSeq DNA:NT_030059, RefSeq Protein:NP_775483, RefSeq RNA:NM_173348, UniProtKB:Q96BN6 No chr10 74927877 75002435 73168090 73242181 +PA162386432 388181 HGNC:31735 ENSG00000214424 family with sequence similarity 149, member B1 pseudogene 1 FAM149B1P1 Yes No Ensembl:ENSG00000214424, GeneCard:FAM149B2, HGNC:HGNC:31735, NCBI Gene:388181 No chr15 97300216 97301823 96756852 96758592 +PA162386465 338094 HGNC:25032 ENSG00000162391 family with sequence similarity 151 member A FAM151A family with sequence similarity 151, member A C1orf179, MGC27169 Yes No Ensembl:ENSG00000162391, GeneCard:FAM151A, HGNC:HGNC:25032, NCBI Gene:338094, RefSeq DNA:NT_032977, RefSeq Protein:NP_788954, RefSeq RNA:NM_176782, UniProtKB:Q8WW52 No chr1 +PA162386486 167555 HGNC:33716 ENSG00000152380 family with sequence similarity 151 member B FAM151B family with sequence similarity 151, member B UNQ9217 Yes No Ensembl:ENSG00000152380, GeneCard:FAM151B, HGNC:HGNC:33716, ModBase:Q6UXP7, NCBI Gene:167555, RefSeq DNA:NT_006713, RefSeq Protein:NP_991111, RefSeq RNA:NM_205548, UniProtKB:Q6UXP7 No chr5 79783800 79838382 80487981 80542563 +PA162386535 285596 HGNC:29940 ENSG00000170074 family with sequence similarity 153 member A FAM153A """NY REN 7 antigen"", ""family with sequence similarity 153, member A""" NY-REN-7 Yes No Ensembl:ENSG00000170074, GeneCard:FAM153A, HGNC:HGNC:29940, NCBI Gene:285596, RefSeq DNA:NT_023133, RefSeq Protein:NP_775934, RefSeq RNA:NM_173663, UniProtKB:Q9UHL3 No chr5 177150365 177207505 177694247 177783518 +PA162386580 202134 HGNC:27323 ENSG00000182230 family with sequence similarity 153 member B FAM153B family with sequence similarity 153, member B Yes No Ensembl:ENSG00000182230, GeneCard:FAM153B, HGNC:HGNC:27323, ModBase:P0C7A2, NCBI Gene:202134, RefSeq DNA:NT_023133, RefSeq Protein:NP_001072997, RefSeq RNA:NM_001079529, UniProtKB:P0C7A2 No chr5 175490712 175541801 176063709 176114798 +PA162386698 29057 HGNC:30114 ENSG00000179304, ENSG00000182646 family with sequence similarity 156 member A FAM156A family with sequence similarity 156, member A PRO0659, TMEM29 Yes No Ensembl:ENSG00000179304, Ensembl:ENSG00000182646, GeneCard:FAM156A, HGNC:HGNC:30114, HumanCyc Gene:HS17258, NCBI Gene:29057, RefSeq DNA:NT_011630, RefSeq Protein:NP_001229418, RefSeq Protein:NP_001229419, RefSeq Protein:NP_001229420, RefSeq Protein:NP_001229421, RefSeq Protein:NP_001229422, RefSeq Protein:NP_001229423, RefSeq Protein:NP_001229424, RefSeq Protein:NP_001229425, RefSeq Protein:NP_001229426, RefSeq Protein:NP_054857, RefSeq RNA:NM_001242489, RefSeq RNA:NM_001242490, RefSeq RNA:NM_001242491, RefSeq RNA:NM_001242492, RefSeq RNA:NM_001242493, RefSeq RNA:NM_001242494, RefSeq RNA:NM_001242495, RefSeq RNA:NM_001242496, RefSeq RNA:NM_001242497, RefSeq RNA:NM_014138 No chrX 52976462 53024651 52947254 52995472 +PA162386699 727866 HGNC:31962 ENSG00000179304 family with sequence similarity 156 member B FAM156B family with sequence similarity 156, member B TMEM29B Yes No Ensembl:ENSG00000179304, GeneCard:FAM156B, HGNC:HGNC:31962, ModBase:Q9UI49, NCBI Gene:727866, RefSeq DNA:NT_011630, RefSeq Protein:NP_001093154, RefSeq RNA:NM_001099684, UniProtKB:Q8NDB6 No chrX 52920629 52937587 52891599 52908560 +PA164719690 728262 HGNC:34079 ENSG00000236438 family with sequence similarity 157, member A FAM157A Yes No Ensembl:ENSG00000236438, GeneCard:FAM157A, HGNC:HGNC:34079, NCBI Gene:728262, RefSeq DNA:NT_029928, RefSeq DNA:NT_079592, RefSeq Protein:NP_001138720, RefSeq RNA:NM_001145248, UniProtKB:C9JC47 No chr3 197879039 197907728 198152155 198198958 +PA164719708 100132403 HGNC:34080 ENSG00000233013 family with sequence similarity 157, member B FAM157B Yes No Ensembl:ENSG00000233013, GeneCard:FAM157B, HGNC:HGNC:34080, NCBI Gene:100132403, RefSeq DNA:NT_024000, RefSeq DNA:NT_079592, RefSeq Protein:NP_001138721, RefSeq RNA:NM_001145249, UniProtKB:P0CG42 No chr9 141106439 141152460 138215372 138275354 +PA164719726 100996541 HGNC:34081 ENSG00000260528 family with sequence similarity 157, member C FAM157C Yes No Ensembl:ENSG00000260528, GeneCard:FAM157C, HGNC:HGNC:34081, NCBI Gene:100996541, RefSeq DNA:NT_010542, RefSeq Protein:XP_001714214, RefSeq RNA:XM_001714162, UniProtKB:P0CG43 No chr16 90167600 90226214 90102264 90177606 +PA162386876 84140 HGNC:25808 ENSG00000170264 FAM161 centrosomal protein A FAM161A """FAM161A, centrosomal protein"", ""family with sequence similarity 161, member A""" FLJ13305, RP28 Yes No Ensembl:ENSG00000170264, GeneCard:FAM161A, HGNC:HGNC:25808, NCBI Gene:84140, RefSeq DNA:NT_022184, RefSeq Protein:NP_001188472, RefSeq Protein:NP_115556, RefSeq RNA:NM_001201543, RefSeq RNA:NM_032180, RefSeq RNA:NR_037710, UniProtKB:Q3B820 No chr2 62051983 62081278 61800240 61856074 +PA162386893 145483 HGNC:19854 ENSG00000156050 FAM161 centrosomal protein B FAM161B """FAM161B, centrosomal protein"", ""family with sequence similarity 161, member B""" C14orf44, FLJ31697 Yes No Ensembl:ENSG00000156050, GeneCard:FAM161B, HGNC:HGNC:19854, HumanCyc Gene:HS14601, NCBI Gene:145483, RefSeq DNA:NT_026437, RefSeq Protein:NP_689658, RefSeq RNA:NM_152445, UniProtKB:Q96MY7 No chr14 74399695 74417117 73932031 73950414 +PA162386916 26355 HGNC:17865 ENSG00000114023 family with sequence similarity 162 member A FAM162A """HIF-1α-responsive proapoptotic molecule"", ""HIF-1α-responsive proapoptotic molecule"", ""family with sequence similarity 162, member A""" C3orf28, E2IG5, HGTD-P Yes No Ensembl:ENSG00000114023, GeneCard:FAM162A, HGNC:HGNC:17865, HumanCyc Gene:HS12809, NCBI Gene:26355, OMIM:608017, RefSeq DNA:NT_005612, RefSeq Protein:NP_055182, RefSeq RNA:NM_014367, UniProtKB:Q96A26 No chr3 122103023 122128961 122384176 122410114 +PA162386931 221303 HGNC:21549 ENSG00000183807 family with sequence similarity 162 member B FAM162B family with sequence similarity 162, member B C6orf189, bA86F4.2 Yes No Ensembl:ENSG00000183807, GeneCard:FAM162B, HGNC:HGNC:21549, NCBI Gene:221303, RefSeq DNA:NT_025741, RefSeq Protein:NP_001078949, RefSeq RNA:NM_001085480, UniProtKB:Q5T6X4 No chr6 117073360 117086886 116752197 116765723 +PA162386944 148753 HGNC:28274 ENSG00000143340 family with sequence similarity 163 member A FAM163A """cebelin"", ""family with sequence similarity 163, member A"", ""neuroblastoma derived secretory protein""" C1orf76, MGC16664, NDSP Yes No Ensembl:ENSG00000143340, GeneCard:FAM163A, HGNC:HGNC:28274, NCBI Gene:148753, OMIM:611727, RefSeq DNA:NT_004487, RefSeq Protein:NP_775780, RefSeq RNA:NM_173509, UniProtKB:A8K8R7, UniProtKB:Q96GL9 No chr1 179696912 179785333 179727763 179816198 +PA162386945 642968 HGNC:33277 ENSG00000196990 family with sequence similarity 163 member B FAM163B """cebelin-like"", ""family with sequence similarity 163, member B""" C9orf166 Yes No Ensembl:ENSG00000196990, GeneCard:FAM163B, HGNC:HGNC:33277, NCBI Gene:642968, RefSeq DNA:NT_035014, RefSeq Protein:NP_001073984, RefSeq RNA:NM_001080515, UniProtKB:P0C2L3 No chr9 136442141 136474472 133577075 133609953 +PA162387057 83648 HGNC:15549 ENSG00000154319 family with sequence similarity 167 member A FAM167A """disordered autoimmunity 1"", ""family with sequence similarity 167, member A""" C8orf13, DIORA-1 Yes No Ensembl:ENSG00000154319, GeneCard:FAM167A, HGNC:HGNC:15549, HumanCyc Gene:HS14519, NCBI Gene:83648, OMIM:610085, RefSeq DNA:NT_077531, RefSeq Protein:NP_444509, RefSeq RNA:NM_053279, UniProtKB:Q96KS9 No chr8 11278972 11324276 11421464 11475904 +PA162387068 84734 HGNC:28133 ENSG00000183615 family with sequence similarity 167 member B FAM167B """disordered autoimmunity 2"", ""family with sequence similarity 167, member B""" C1orf90, DIORA-2, MGC10820 Yes No Ensembl:ENSG00000183615, GeneCard:FAM167B, HGNC:HGNC:28133, NCBI Gene:84734, RefSeq DNA:NT_032977, RefSeq Protein:NP_116037, RefSeq RNA:NM_032648, UniProtKB:Q9BTA0 No chr1 32712818 32714461 32247217 32248860 +PA162387077 23201 HGNC:28999 ENSG00000054965 family with sequence similarity 168 member A FAM168A """family with sequence similarity 168, member A"", ""tongue cancer chemotherapy resistance-associated protein 1""" KIAA0280, TCRP1 Yes No Ensembl:ENSG00000054965, GeneCard:FAM168A, HGNC:HGNC:28999, ModBase:Q92567, NCBI Gene:23201, RefSeq DNA:NT_167190, RefSeq Protein:NP_055974, RefSeq RNA:NM_015159, UniProtKB:Q92567 No chr11 73111837 73309234 73400478 73598189 +PA162387098 130074 HGNC:27016 ENSG00000152102 family with sequence similarity 168 member B FAM168B """family with sequence similarity 168, member B"", ""myelin associated neurite outgrowth inhibitor""" KIAA0280L, MANI Yes No Ensembl:ENSG00000152102, GeneCard:FAM168B, HGNC:HGNC:27016, ModBase:A1KXE4, NCBI Gene:130074, RefSeq DNA:NT_022135, RefSeq Protein:NP_001009993, RefSeq RNA:NM_001009993, UniProtKB:A1KXE4 No chr2 131805449 131851033 131047876 131093468 +PA162387117 26049 HGNC:29138 ENSG00000198780 family with sequence similarity 169 member A FAM169A """Soluble-Lamin Associated Protein"", ""family with sequence similarity 169, member A"", ""soluble lamina-associated protein of 75 kD""" KIAA0888, SLAP, SLAP75 Yes No Ensembl:ENSG00000198780, GeneCard:FAM169A, HGNC:HGNC:29138, ModBase:Q9Y6X4, NCBI Gene:26049, RefSeq DNA:NT_006713, RefSeq Protein:NP_056381, RefSeq RNA:NM_015566, UniProtKB:Q9Y6X4 No chr5 74073399 74163832 74777574 74867994 +PA162387148 283777 HGNC:26835 ENSG00000283597 family with sequence similarity 169 member B FAM169B family with sequence similarity 169, member B FLJ39743, KIAA0888L Yes No Ensembl:ENSG00000283597, GeneCard:FAM169B, HGNC:HGNC:26835, NCBI Gene:283777, RefSeq DNA:NT_010274, RefSeq Protein:NP_872368, RefSeq RNA:NM_182562 No chr15 98980391 99057611 98437162 98514382 +PA162387167 340069 HGNC:27963 ENSG00000164334 family with sequence similarity 170 member A FAM170A family with sequence similarity 170, member A ZNFD Yes No Ensembl:ENSG00000164334, GeneCard:FAM170A, HGNC:HGNC:27963, NCBI Gene:340069, RefSeq DNA:NT_034772, RefSeq Protein:NP_001157463, RefSeq Protein:NP_877438, RefSeq RNA:NM_001163991, RefSeq RNA:NM_182761, UniProtKB:A1A519 No chr5 118965254 118971517 119629559 119635822 +PA162387168 170370 HGNC:19736 ENSG00000172538 family with sequence similarity 170 member B FAM170B family with sequence similarity 170, member B AC084727.4, C10orf73, Em:AC084727.4 Yes No Ensembl:ENSG00000172538, GeneCard:FAM170B, HGNC:HGNC:19736, NCBI Gene:170370, RefSeq DNA:NT_030059, RefSeq Protein:NP_001157956, RefSeq Protein:XP_001715167, RefSeq Protein:XP_096317, RefSeq Protein:XP_942621, RefSeq RNA:NM_001164484, RefSeq RNA:XM_001715115, RefSeq RNA:XM_096317, RefSeq RNA:XM_937528, UniProtKB:A6NMN3 No chr10 50339199 50342065 49131154 49134020 +PA162387176 221061 HGNC:23522 ENSG00000148468 family with sequence similarity 171 member A1 FAM171A1 """astroprincin"", ""family with sequence similarity 171, member A1""" APCN, C10orf38, FLJ12884 Yes No Ensembl:ENSG00000148468, GeneCard:FAM171A1, HGNC:HGNC:23522, ModBase:Q5VUB5, NCBI Gene:221061, RefSeq DNA:NT_008705, RefSeq Protein:NP_001010924, RefSeq RNA:NM_001010924, UniProtKB:B3KMX9, UniProtKB:Q5VUB5, UniProtKB:Q9Y438 No chr10 15253642 15413058 15211643 15374532 +PA162387197 284069 HGNC:30480 ENSG00000161682 family with sequence similarity 171 member A2 FAM171A2 family with sequence similarity 171, member A2 MGC34829 Yes No Ensembl:ENSG00000161682, GeneCard:FAM171A2, HGNC:HGNC:30480, NCBI Gene:284069, RefSeq DNA:NT_010783, RefSeq Protein:NP_940877, RefSeq RNA:NM_198475, UniProtKB:A8MVW0 No chr17 42431101 42441235 44353215 44363867 +PA162387220 165215 HGNC:29412 ENSG00000144369 family with sequence similarity 171 member B FAM171B family with sequence similarity 171, member B FLJ34104, KIAA1946 Yes No Ensembl:ENSG00000144369, GeneCard:FAM171B, HGNC:HGNC:29412, NCBI Gene:165215, RefSeq DNA:NT_005403, RefSeq Protein:NP_803237, RefSeq RNA:NM_177454, UniProtKB:Q6P995 No chr2 187558789 187630686 186694062 186763787 +PA162387296 345757 HGNC:24943 ENSG00000174132 family with sequence similarity 174 member A FAM174A """family with sequence similarity 174, member A"", ""hepatitis C virus nonstructural protein 5A trans-activated protein 6""" NS5ATP6, TMEM157, UNQ1912 Yes No Ensembl:ENSG00000174132, GeneCard:FAM174A, HGNC:HGNC:24943, ModBase:Q8TBP5, NCBI Gene:345757, RefSeq DNA:NT_034772, RefSeq Protein:NP_940909, RefSeq RNA:NM_198507, UniProtKB:Q8TBP5 No chr5 99871051 99922440 100535305 100586741 +PA162387297 400451 HGNC:34339 ENSG00000185442 family with sequence similarity 174 member B FAM174B family with sequence similarity 174, member B LOC400451, MGC102891 Yes No Ensembl:ENSG00000185442, GeneCard:FAM174B, HGNC:HGNC:34339, NCBI Gene:400451, RefSeq DNA:NT_010274, RefSeq Protein:NP_997329, RefSeq RNA:NM_207446, UniProtKB:Q3ZCQ3 No chr15 93160678 93199031 92617447 92734219 +PA166351793 55009 HGNC:26073 family with sequence similarity 174 member C FAM174C C19orf24, FLJ20640 Yes No HGNC:HGNC:26073, NCBI Gene:55009 No 0 0 0 0 +PA162387378 283635 HGNC:19829 ENSG00000151327 family with sequence similarity 177 member A1 FAM177A1 family with sequence similarity 177, member A1 C14orf24 Yes Yes Ensembl:ENSG00000151327, GeneCard:FAM177A1, HGNC:HGNC:19829, HumanCyc Gene:HS14361, ModBase:Q8N128, NCBI Gene:283635, RefSeq DNA:NT_026437, RefSeq Protein:NP_001072987, RefSeq Protein:NP_775878, RefSeq RNA:NM_001079519, RefSeq RNA:NM_173607, UniProtKB:Q8N128 No chr14 35514113 35552589 35044907 35083383 +PA162387393 728710 HGNC:34441 ENSG00000214886 family with sequence similarity 177, member A1 pseudogene 1 FAM177A1P1 Yes No Ensembl:ENSG00000214886, GeneCard:FAM177A1P1, HGNC:HGNC:34441, NCBI Gene:728710, RefSeq DNA:NG_011746 No chr4 99877150 99886107 98955983 98964956 +PA162387394 400823 HGNC:34395 ENSG00000197520 family with sequence similarity 177 member B FAM177B family with sequence similarity 177, member B FLJ43505, RP11-452F19.2 Yes No Ensembl:ENSG00000197520, GeneCard:FAM177B, HGNC:HGNC:34395, NCBI Gene:400823, RefSeq DNA:NT_167186, RefSeq Protein:NP_997351, RefSeq RNA:NM_207468, UniProtKB:A6PVY3 No chr1 222910558 222926932 222737216 222772193 +PA162387456 51252 HGNC:28036 ENSG00000168754 family with sequence similarity 178 member B FAM178B family with sequence similarity 178, member B LOC51252 Yes Yes Ensembl:ENSG00000168754, GeneCard:FAM178B, HGNC:HGNC:28036, HumanCyc Gene:HS15705, NCBI Gene:51252, RefSeq DNA:NT_022171, RefSeq Protein:NP_001116118, RefSeq Protein:NP_001166138, RefSeq Protein:NP_057574, RefSeq RNA:NM_001122646, RefSeq RNA:NM_001172667, RefSeq RNA:NM_016490, UniProtKB:B3KV66, UniProtKB:Q8IXR5 No chr2 97541619 97652337 96875882 96986600 +PA162387559 389558 HGNC:33773 ENSG00000189320 family with sequence similarity 180 member A FAM180A family with sequence similarity 180, member A HWKM1940, UNQ1940 Yes No Ensembl:ENSG00000189320, GeneCard:FAM180A, HGNC:HGNC:33773, NCBI Gene:389558, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_995327, RefSeq RNA:NM_205855, UniProtKB:Q6UWF9 No chr7 135413096 135433616 135729598 135748869 +PA162387572 399888 HGNC:34451 ENSG00000196666 family with sequence similarity 180 member B FAM180B """family with sequence similarity 180, member B"", ""hypothetical gene supported by BC065704""" LOC399888 Yes No Ensembl:ENSG00000196666, GeneCard:FAM180B, HGNC:HGNC:34451, ModBase:Q6P0A1, NCBI Gene:399888, RefSeq DNA:NT_009237, RefSeq Protein:NP_001157851, RefSeq Protein:XP_001716477, RefSeq Protein:XP_374880, RefSeq Protein:XP_946901, RefSeq RNA:NM_001164379, RefSeq RNA:XM_001716425, RefSeq RNA:XM_374880, RefSeq RNA:XM_941808, UniProtKB:Q6P0A1 No chr11 47608230 47610746 47586678 47589194 +PA162387582 90050 HGNC:20491 ENSG00000140067 family with sequence similarity 181 member A FAM181A family with sequence similarity 181, member A C14orf152 Yes No Ensembl:ENSG00000140067, GeneCard:FAM181A, HGNC:HGNC:20491, HumanCyc Gene:HS13814, NCBI Gene:90050, RefSeq DNA:NT_026437, RefSeq Protein:NP_001194000, RefSeq Protein:NP_001194001, RefSeq Protein:NP_001194002, RefSeq Protein:NP_001194003, RefSeq Protein:NP_612353, RefSeq RNA:NM_001207071, RefSeq RNA:NM_001207072, RefSeq RNA:NM_001207073, RefSeq RNA:NM_001207074, RefSeq RNA:NM_138344, UniProtKB:Q8N9Y4 No chr14 94385240 94395954 93918894 93929608 +PA134936140 283592 HGNC:20133 ENSG00000258584 FAM181A antisense RNA 1 FAM181A-AS1 Yes No Ensembl:ENSG00000258584, GeneCard:C14orf86, HGNC:HGNC:20133, NCBI Gene:283592, RefSeq DNA:NT_026437, RefSeq RNA:NR_027004 No chr14 94371076 94392718 93904730 93926372 +PA162387593 220382 HGNC:28512 ENSG00000182103 family with sequence similarity 181 member B FAM181B family with sequence similarity 181, member B LOC220382, MGC33846 Yes No Ensembl:ENSG00000182103, GeneCard:FAM181B, HGNC:HGNC:28512, ModBase:A6NEQ2, NCBI Gene:220382, RefSeq DNA:NT_167190, RefSeq Protein:NP_787081, RefSeq RNA:NM_175885, UniProtKB:A6NEQ2 No chr11 82443046 82444906 82732004 82733864 +PA162387600 284800 HGNC:16222 ENSG00000125804 family with sequence similarity 182, member A FAM182A C20orf91A, bB329D4.1 Yes No Ensembl:ENSG00000125804, GeneCard:FAM182A, HGNC:HGNC:16222, NCBI Gene:284800, RefSeq DNA:NT_011387, RefSeq RNA:NR_026713 No chr20 26035250 26067553 26054614 26086917 +PA162387614 728882 HGNC:34503 ENSG00000175170 family with sequence similarity 182, member B FAM182B Yes No Ensembl:ENSG00000175170, GeneCard:FAM182B, HGNC:HGNC:34503, NCBI Gene:728882, RefSeq DNA:NT_011387, RefSeq RNA:NR_026714, RefSeq RNA:NR_027061 No chr20 25744102 25781927 25763466 25801291 +PA164719768 79632 HGNC:20991 ENSG00000111879 family with sequence similarity 184 member A FAM184A family with sequence similarity 184, member A C6orf60, FLJ13942 Yes No Ensembl:ENSG00000111879, GeneCard:FAM184A, HGNC:HGNC:20991, HumanCyc Gene:HS12757, ModBase:Q8NB25, NCBI Gene:79632, RefSeq DNA:NT_025741, RefSeq Protein:NP_001093881, RefSeq Protein:NP_078857, RefSeq RNA:NM_001100411, RefSeq RNA:NM_024581, UniProtKB:Q6P9G8, UniProtKB:Q7Z323, UniProtKB:Q8NB25 No chr6 119280992 119470552 118959829 119149193 +PA164719809 27146 HGNC:29235 ENSG00000047662 family with sequence similarity 184 member B FAM184B family with sequence similarity 184, member B KIAA1276 Yes No Ensembl:ENSG00000047662, GeneCard:FAM184B, HGNC:HGNC:29235, NCBI Gene:27146, RefSeq DNA:NT_006316, RefSeq Protein:NP_056503, RefSeq RNA:NM_015688, UniProtKB:Q9ULE4 No chr4 17633696 17783135 17632073 17781512 +PA164719851 222234 HGNC:22412 ENSG00000222011 family with sequence similarity 185 member A FAM185A family with sequence similarity 185, member A MGC35361 Yes No Ensembl:ENSG00000222011, GeneCard:FAM185A, HGNC:HGNC:22412, NCBI Gene:222234, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001138740, RefSeq Protein:NP_001138741, RefSeq RNA:NM_001145268, RefSeq RNA:NM_001145269, RefSeq RNA:NR_026879, UniProtKB:Q8N0U4 No chr7 102389399 102449672 102748944 102913394 +PA164719869 121006 HGNC:26980 ENSG00000185958 family with sequence similarity 186 member A FAM186A family with sequence similarity 186, member A LOC121006 Yes No Ensembl:ENSG00000185958, GeneCard:FAM186A, HGNC:HGNC:26980, ModBase:A6NE01, NCBI Gene:121006, RefSeq DNA:NT_029419, RefSeq Protein:NP_001138947, RefSeq RNA:NM_001145475, UniProtKB:A6NE01 No chr12 50721095 50790405 50326854 50396633 +PA164719890 84070 HGNC:25296 ENSG00000135436 family with sequence similarity 186 member B FAM186B family with sequence similarity 186, member B C12orf25, DKFZP434J0113 Yes No Ensembl:ENSG00000135436, GeneCard:FAM186B, HGNC:HGNC:25296, HumanCyc Gene:HS13581, ModBase:Q8IYM0, NCBI Gene:84070, RefSeq DNA:NT_029419, RefSeq Protein:NP_115506, RefSeq RNA:NM_032130, RefSeq RNA:NR_027450, UniProtKB:Q8IYM0 No chr12 49976658 49999433 49582875 49605710 +PA164719909 100528020 HGNC:35153 ENSG00000214447 family with sequence similarity 187 member A FAM187A family with sequence similarity 187, member A Yes No Ensembl:ENSG00000214447, HGNC:HGNC:35153, NCBI Gene:100528020 No chr17 +PA164719910 148109 HGNC:26366 ENSG00000177558 family with sequence similarity 187 member B FAM187B family with sequence similarity 187, member B FLJ25660, TMEM162 Yes No Ensembl:ENSG00000177558, GeneCard:FAM187B, HGNC:HGNC:26366, HumanCyc Gene:HS16877, ModBase:Q17R55, NCBI Gene:148109, RefSeq DNA:NT_011109, RefSeq Protein:NP_689694, RefSeq RNA:NM_152481, UniProtKB:Q17R55 No chr19 35715704 35719628 35224801 35228725 +PA165663979 8603 HGNC:16822 ENSG00000125386 family with sequence similarity 193 member A FAM193A family with sequence similarity 193, member A C4orf8, RES4-22 Yes No Ensembl:ENSG00000125386, GeneCard:FAM193A, HGNC:HGNC:16822, HumanCyc Gene:HS13159, NCBI Gene:8603, RefSeq DNA:NT_006051, RefSeq DNA:NT_006081, RefSeq Protein:NP_003695, RefSeq RNA:NM_003704, UniProtKB:P78312 No chr4 2627159 2734302 2596288 2732575 +PA165660336 54540 HGNC:25524 ENSG00000146067 family with sequence similarity 193 member B FAM193B family with sequence similarity 193, member B FLJ10404, IRIZIO, KIAA1931 Yes No Ensembl:ENSG00000146067, GeneCard:FAM193B, HGNC:HGNC:25524, HumanCyc Gene:HS14130, NCBI Gene:54540, RefSeq DNA:NT_023133, RefSeq Protein:NP_001177875, RefSeq Protein:NP_061930, RefSeq RNA:NM_001190946, RefSeq RNA:NM_001366498, RefSeq RNA:NM_019057, UniProtKB:Q96PV7 No chr5 176946790 176981548 177519789 177554585 +PA165791231 100289265 HGNC:37464 ENSG00000224336 family with sequence similarity 197, Y-linked, member 1 FAM197Y1 Yes No Ensembl:ENSG00000224336, GeneCard:FAM197Y1, HGNC:HGNC:37464, NCBI Gene:100289265, RefSeq DNA:NT_011878, RefSeq Protein:XP_002344242, RefSeq Protein:XP_002348285, RefSeq RNA:XM_002344201, RefSeq RNA:XM_002348244 No chrY +PA165791258 100288465 HGNC:37627 family with sequence similarity 197, Y-linked, member 10 FAM197Y10 Yes No GeneCard:FAM197Y10, HGNC:HGNC:37627, NCBI Gene:100288465, RefSeq DNA:NT_011875, RefSeq Protein:XP_002343910, RefSeq RNA:XM_002343869 No chrY +PA38711 252946 HGNC:18848 ENSG00000234803 family with sequence similarity 197, Y-linked, member 2 FAM197Y2 Yes No Ensembl:ENSG00000234803, GenAtlas:CYorf16, GeneCard:CYorf16, GeneCard:FAM197Y2P, HGNC:HGNC:18848, NCBI Gene:252946, RefSeq DNA:NT_011878, RefSeq RNA:NR_001553 No chrY 9357275 9362877 9519666 9525268 +PA165791284 107987341 HGNC:37465 ENSG00000230066 family with sequence similarity 197, Y-linked, member 3 FAM197Y3 Yes No Ensembl:ENSG00000230066, GeneCard:FAM197Y3, HGNC:HGNC:37465, NCBI Gene:107987341, RefSeq DNA:NT_011878, RefSeq Protein:XP_001716501, RefSeq RNA:XM_001716449 No chrY +PA165791313 100289188 HGNC:37466 ENSG00000274196 family with sequence similarity 197, Y-linked, member 4 FAM197Y4 Yes No Ensembl:ENSG00000274196, GeneCard:FAM197Y4, HGNC:HGNC:37466, NCBI Gene:100289188, RefSeq DNA:NT_011878, RefSeq Protein:XP_002344241, RefSeq RNA:XM_002344200 No chrY 9314594 9322482 9484323 9485833 +PA165791336 100289150 HGNC:37467 ENSG00000225516 family with sequence similarity 197, Y-linked, member 5 FAM197Y5 Yes No Ensembl:ENSG00000225516, GeneCard:FAM197Y5, HGNC:HGNC:37467, NCBI Gene:100289150, RefSeq DNA:NT_011878, RefSeq Protein:XP_002344240, RefSeq RNA:XM_002344199 No chrY 9296352 9301954 9458743 9464345 +PA165791347 105379270 HGNC:37468 ENSG00000237802 family with sequence similarity 197, Y-linked, member 6 FAM197Y6 Yes No Ensembl:ENSG00000237802, GeneCard:FAM197Y6, HGNC:HGNC:37468, NCBI Gene:105379270, RefSeq DNA:NT_086998, RefSeq Protein:XP_002344483, RefSeq RNA:XM_002344442 No chrY +PA165791386 105379269 HGNC:37469 ENSG00000228383 family with sequence similarity 197, Y-linked, member 7 FAM197Y7 Yes No Ensembl:ENSG00000228383, GeneCard:FAM197Y7, HGNC:HGNC:37469, NCBI Gene:105379269, RefSeq DNA:NT_086998, RefSeq Protein:XP_002344482, RefSeq RNA:XM_002344441 No chrY +PA165791405 105379268 HGNC:37470 ENSG00000225560 family with sequence similarity 197, Y-linked, member 8 FAM197Y8 Yes No Ensembl:ENSG00000225560, GeneCard:FAM197Y8, HGNC:HGNC:37470, NCBI Gene:105379268, RefSeq DNA:NT_086998, RefSeq Protein:XP_002344481, RefSeq RNA:XM_002344440 No chrY +PA165791416 100132932 HGNC:37477 ENSG00000234830 family with sequence similarity 197, Y-linked, member 9 FAM197Y9 Yes No Ensembl:ENSG00000234830, GeneCard:FAM197Y9, HGNC:HGNC:37477, NCBI Gene:100132932, RefSeq DNA:NT_011896, RefSeq Protein:XP_001716221, RefSeq RNA:XM_001716169 No chrY +PA165756587 139231 HGNC:25195 ENSG00000123575 family with sequence similarity 199, X-linked FAM199X CXorf39 Yes No Ensembl:ENSG00000123575, GeneCard:FAM199X, HGNC:HGNC:25195, ModBase:Q6PEV8, NCBI Gene:139231, RefSeq DNA:NT_011651, RefSeq Protein:NP_997201, RefSeq RNA:NM_207318, UniProtKB:B0QYU2, UniProtKB:Q6PEV8 No chrX 103411156 103440583 104157074 104195902 +PA165618089 221786 HGNC:25401 ENSG00000221909 family with sequence similarity 200 member A FAM200A family with sequence similarity 200, member A C7orf38, DKFZp727G131, FLJ36794 Yes No Ensembl:ENSG00000221909, GeneCard:FAM200A, HGNC:HGNC:25401, ModBase:Q8TCP9, NCBI Gene:221786, RefSeq DNA:NG_000004, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_659802, RefSeq RNA:NM_145111, UniProtKB:Q8TCP9 No chr7 99143923 99156115 99546295 99554743 +PA165664101 285550 HGNC:27740 ENSG00000237765 family with sequence similarity 200 member B FAM200B """chromosome 4 open reading frame 53"", ""family with sequence similarity 200, member B""" C4orf53 Yes No Ensembl:ENSG00000237765, GeneCard:FAM200B, HGNC:HGNC:27740, NCBI Gene:285550, RefSeq DNA:NT_006316, RefSeq Protein:NP_001138663, RefSeq RNA:NM_001145191, UniProtKB:P0CF97 No chr4 15683352 15692070 15681729 15690447 +PA164717348 63920 HGNC:30804 ENSG00000221886 family with sequence similarity 200 member C FAM200C """chromosome 5 open reading frame 54"", ""zinc finger BED-type containing 8"", ""zinc finger, BED-type containing 8""" Buster3, C5orf54, ZBED8 Yes No Ensembl:ENSG00000221886, GeneCard:C5orf54, HGNC:HGNC:30804, HumanCyc Gene:HS15219, NCBI Gene:63920, RefSeq DNA:NT_023133, RefSeq Protein:NP_071373, RefSeq RNA:NM_022090, UniProtKB:Q8IZ13 No chr5 159820155 159827060 160393148 160400097 +PA165585805 158228 HGNC:27239 ENSG00000204860 family with sequence similarity 201, member A FAM201A Yes Yes Ensembl:ENSG00000204860, GeneCard:FAM201A, HGNC:HGNC:27239, NCBI Gene:158228, RefSeq DNA:NT_008413, RefSeq RNA:NR_027294, RefSeq RNA:XM_379636, RefSeq RNA:XM_940165, RefSeq RNA:XR_041857 No chr9 38621085 38623281 38621088 38623284 +PA165696669 339742 HGNC:27933 ENSG00000230992 family with sequence similarity 201, member B FAM201B Yes No Ensembl:ENSG00000230992, GeneCard:FAM201B, HGNC:HGNC:27933, NCBI Gene:339742, RefSeq DNA:NT_022135, RefSeq Protein:XP_001714313, RefSeq Protein:XP_934976, RefSeq Protein:XP_942297, RefSeq RNA:XM_001714261, RefSeq RNA:XM_929883, RefSeq RNA:XM_937204 No chr2 133106835 133111856 132352667 132354283 +PA134910767 63877 HGNC:25794 ENSG00000165669 family with sequence similarity 204 member A FAM204A family with sequence similarity 204, member A C10orf84, FLJ13188, bA319I23.1 Yes No Ensembl:ENSG00000165669, GeneCard:C10orf84, HGNC:HGNC:25794, HumanCyc Gene:HS15352, ModBase:Q9H8W3, NCBI Gene:63877, RefSeq DNA:NT_030059, RefSeq Protein:NP_001128144, RefSeq Protein:NP_071346, RefSeq RNA:NM_001134672, RefSeq RNA:NM_022063, UniProtKB:Q9H8W3 No chr10 120065401 120101839 118305889 118342352 +PA134974173 200232 HGNC:16100 ENSG00000124103 family with sequence similarity 209 member A FAM209A family with sequence similarity 209, member A C20orf106, dJ1153D9.3 Yes No Ensembl:ENSG00000124103, GeneCard:C20orf106, HGNC:HGNC:16100, HumanCyc Gene:HS13108, NCBI Gene:200232, RefSeq DNA:NT_011362, RefSeq Protein:NP_001012989, RefSeq RNA:NM_001012971, UniProtKB:Q5JX71 No chr20 55099785 55101208 56524729 56533590 +PA25646 388799 HGNC:16101 ENSG00000213714 family with sequence similarity 209 member B FAM209B family with sequence similarity 209, member B C20orf107, dJ1153D9.4 Yes No Ensembl:ENSG00000213714, GeneCard:C20orf107, HGNC:HGNC:16101, NCBI Gene:388799, RefSeq DNA:NT_011362, RefSeq Protein:NP_001013668, RefSeq RNA:NM_001013646, UCSC Genome Browser:NM_080824, UniProtKB:Q5JX69 No chr20 55105960 55111576 56527124 56555626 +PA134888583 54757 HGNC:23015 ENSG00000108950 FAM20A golgi associated secretory pathway pseudokinase FAM20A """FAM20A, golgi associated secretory pathway pseudokinase"", ""family with sequence similarity 20, member A""" DKFZp434F2322 Yes No Ensembl:ENSG00000108950, GeneCard:FAM20A, HGNC:HGNC:23015, HumanCyc Gene:HS12682, ModBase:Q96MK3, NCBI Gene:54757, OMIM:611062, RefSeq DNA:NT_010783, RefSeq Protein:NP_060035, RefSeq RNA:NM_017565, RefSeq RNA:NR_027751, UniProtKB:Q8IYA5, UniProtKB:Q96MK3 No chr17 66531257 66597095 68534561 68600954 +PA134930918 9917 HGNC:23017 ENSG00000116199 FAM20B glycosaminoglycan xylosylkinase FAM20B """FAM20B, glycosaminoglycan xylosylkinase"", ""family with sequence similarity 20, member B"", ""glycosaminoglycan xylosylkinase""" GXK1, KIAA0475 Yes No Ensembl:ENSG00000116199, GeneCard:FAM20B, HGNC:HGNC:23017, HumanCyc Gene:HS12861, NCBI Gene:9917, OMIM:611063, RefSeq DNA:NT_004487, RefSeq Protein:NP_055679, RefSeq RNA:NM_014864, UniProtKB:O75063 No chr1 178994939 179045702 179025804 179076574 +PA134898453 56975 HGNC:22140 ENSG00000177706 FAM20C golgi associated secretory pathway kinase FAM20C """FAM20C, golgi associated secretory pathway kinase"", ""dentin matrix protein 4"", ""family with sequence similarity 20, member C"", ""golgi casein kinase""" DKFZp547D065, DMP4, G-CK, IMAGE:4942737 Yes No Comparative Toxicogenomics Database:56975, Ensembl:ENSG00000177706, GeneCard:FAM20C, HGNC:HGNC:22140, NCBI Gene:56975, OMIM:259775, OMIM:611061, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_064608, RefSeq RNA:NM_020223, UniProtKB:Q8IXL6 No chr7 192969 300740 192939 260774 +PA134993051 125228 HGNC:28346 ENSG00000177150 family with sequence similarity 210 member A FAM210A family with sequence similarity 210, member A C18orf19, HsT2329, MGC24180 Yes No Ensembl:ENSG00000177150, GeneCard:C18orf19, HGNC:HGNC:28346, HumanCyc Gene:HS16800, NCBI Gene:125228, RefSeq DNA:NT_010859, RefSeq Protein:NP_001092271, RefSeq Protein:NP_689565, RefSeq RNA:NM_001098801, RefSeq RNA:NM_152352, UniProtKB:Q96ND0 No chr18 13663346 13726591 13663347 13726592 +PA25647 116151 HGNC:16102 ENSG00000124098 family with sequence similarity 210 member B FAM210B """family with sequence similarity 210, member B"", ""hypothetical protein LOC116151""" C20orf108, DKFZP434A1114, dJ1167H4.1 Yes No Ensembl:ENSG00000124098, GenAtlas:C20orf108, GeneCard:C20orf108, HGNC:HGNC:16102, HumanCyc Gene:HS13107, ModBase:Q96KR6, NCBI Gene:116151, RefSeq DNA:NT_011362, RefSeq Protein:NP_543011, RefSeq RNA:NM_080821, UCSC Genome Browser:NM_080821, UniProtKB:Q96KR6 No chr20 54933983 54943719 56358927 56368663 +PA164716952 23591 HGNC:17505 ENSG00000267496 family with sequence similarity 215, member A (non-protein coding) FAM215A long intergenic non-protein coding RNA 530 APR-2, LINC00530 Yes No Ensembl:ENSG00000267496, GeneCard:C17orf88, HGNC:HGNC:17505, NCBI Gene:23591, RefSeq DNA:NT_010783, RefSeq RNA:NR_026770 No chr17 41994576 41995355 43917208 43917987 +PA128395781 29902 HGNC:30180 ENSG00000204856 family with sequence similarity 216 member A FAM216A family with sequence similarity 216, member A C12orf24, HSU79274 Yes No Ensembl:ENSG00000204856, GeneCard:C12orf24, HGNC:HGNC:30180, NCBI Gene:29902, RefSeq DNA:NT_009775, RefSeq Protein:NP_037432, RefSeq RNA:NM_013300, UCSC Genome Browser:NM_013300, UniProtKB:Q8WUB2 No chr12 110906232 110928192 110468424 110490387 +PA147358510 144809 HGNC:26883 ENSG00000179813 family with sequence similarity 216 member B FAM216B family with sequence similarity 216, member B C13orf30, FLJ40919 Yes No Ensembl:ENSG00000179813, GeneCard:C13orf30, HGNC:HGNC:26883, NCBI Gene:144809, RefSeq DNA:NT_024524, RefSeq Protein:NP_872314, RefSeq RNA:NM_182508, UniProtKB:Q8N7L0 No chr13 43355686 43365685 42781550 42791549 +PA134935759 222826 HGNC:21362 ENSG00000145975 family with sequence similarity 217 member A FAM217A family with sequence similarity 217, member A C6orf146, MGC43581 Yes No Ensembl:ENSG00000145975, GeneCard:C6orf146, HGNC:HGNC:21362, HumanCyc Gene:HS14123, NCBI Gene:222826, RefSeq DNA:NT_007592, RefSeq Protein:NP_775834, RefSeq RNA:NM_173563, UniProtKB:Q8IXS0 No chr6 4068593 4079457 4068352 4087344 +PA25720 63939 HGNC:16170 ENSG00000196227 family with sequence similarity 217 member B FAM217B family with sequence similarity 217, member B C20orf177, dJ551D2.5 Yes No Ensembl:ENSG00000196227, GenAtlas:C20orf177, GeneCard:C20orf177, HGNC:HGNC:16170, ModBase:Q9NTX9, NCBI Gene:63939, RefSeq DNA:NT_011362, RefSeq Protein:NP_001177755, RefSeq Protein:NP_001177756, RefSeq Protein:NP_071389, RefSeq RNA:NM_001190826, RefSeq RNA:NM_001190827, RefSeq RNA:NM_022106, UCSC Genome Browser:NM_022106, UniProtKB:Q9NTX9 No chr20 58508819 58523735 59933764 59948680 +PA162379827 152756 HGNC:26466 ENSG00000250486 family with sequence similarity 218 member A FAM218A family with sequence similarity 218, member A C4orf39, FLJ31659 Yes No Ensembl:ENSG00000250486, GeneCard:C4orf39, HGNC:HGNC:26466, NCBI Gene:152756, RefSeq DNA:NT_016354, RefSeq Protein:NP_694572, RefSeq RNA:NM_153027, UniProtKB:Q96MZ4 No chr4 165878100 165880273 164956948 164959121 +PA134916501 203259 HGNC:19920 ENSG00000164970 family with sequence similarity 219 member A FAM219A family with sequence similarity 219, member A C9orf25, FLJ39031, bA573M23.5 Yes No Ensembl:ENSG00000164970, GeneCard:C9orf25, HGNC:HGNC:19920, HumanCyc Gene:HS15266, NCBI Gene:203259, RefSeq DNA:NT_008413, RefSeq Protein:NP_001171869, RefSeq Protein:NP_001171870, RefSeq Protein:NP_001171871, RefSeq Protein:NP_001171872, RefSeq Protein:NP_001171873, RefSeq Protein:NP_001171874, RefSeq Protein:NP_671735, RefSeq RNA:NM_001184940, RefSeq RNA:NM_001184941, RefSeq RNA:NM_001184942, RefSeq RNA:NM_001184943, RefSeq RNA:NM_001184944, RefSeq RNA:NM_001184945, RefSeq RNA:NM_147202, UniProtKB:Q8IW50 No chr9 34398182 34458568 34398184 34458610 +PA134953632 57184 HGNC:24695 ENSG00000178761 family with sequence similarity 219 member B FAM219B family with sequence similarity 219, member B C15orf17, FLJ00005 Yes No Ensembl:ENSG00000178761, GeneCard:C15orf17, HGNC:HGNC:24695, NCBI Gene:57184, RefSeq DNA:NT_010194, RefSeq Protein:NP_065180, RefSeq RNA:NM_020447, UniProtKB:Q5XKK7 No chr15 75192328 75199462 74898763 74907228 +PA165617654 84792 HGNC:22422 ENSG00000178397 family with sequence similarity 220 member A FAM220A """STAT3-interacting protein as a repressor"", ""acrosomal protein 1"", ""family with sequence similarity 220, member A""" ACPIN1, C7orf70, MGC12966, SIPAR Yes No Ensembl:ENSG00000178397, GeneCard:C7orf70, HGNC:HGNC:22422, NCBI Gene:84792, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001032240, RefSeq RNA:NM_001037163, UniProtKB:Q7Z4H9 No chr7 6369040 6388590 6329409 6348959 +PA142672315 647044 HGNC:23678 ENSG00000176007 family with sequence similarity 220, member B, pseudogene FAM220BP bA392E22.4 Yes No Ensembl:ENSG00000176007, GeneCard:FAM220BP, HGNC:HGNC:23678, ModBase:B1ANY3, NCBI Gene:647044, RefSeq DNA:NT_008413, RefSeq RNA:XR_078396, RefSeq RNA:XR_079062, RefSeq RNA:XR_079248, RefSeq RNA:XR_108945 No chr9 38526944 38527909 38526662 38528814 +PA162380501 340277 HGNC:27977 ENSG00000188732 family with sequence similarity 221 member A FAM221A family with sequence similarity 221, member A C7orf46, DKFZp686F0810, FLJ45875, MGC72075 Yes No Ensembl:ENSG00000188732, GeneCard:C7orf46, HGNC:HGNC:27977, NCBI Gene:340277, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001120836, RefSeq Protein:NP_001120837, RefSeq Protein:NP_954587, RefSeq RNA:NM_001127364, RefSeq RNA:NM_001127365, RefSeq RNA:NM_199136, UniProtKB:A4D161 No chr7 23719231 23742269 23680114 23703249 +PA134925958 392307 HGNC:30762 ENSG00000204930 family with sequence similarity 221 member B FAM221B family with sequence similarity 221, member B C9orf128 Yes No Ensembl:ENSG00000204930, GeneCard:C9orf128, HGNC:HGNC:30762, NCBI Gene:392307, RefSeq DNA:NT_008413, RefSeq Protein:NP_001012448, RefSeq RNA:NM_001012446, UniProtKB:A6H8Z2 No chr9 35817014 35833372 35817017 35829148 +PA143485364 84915 HGNC:25915 ENSG00000139438 family with sequence similarity 222 member A FAM222A """aggregatin"", ""family with sequence similarity 222, member A""" C12orf34, FLJ14721 Yes No Ensembl:ENSG00000139438, GeneCard:C12orf34, HGNC:HGNC:25915, HumanCyc Gene:HS13781, NCBI Gene:84915, RefSeq DNA:NT_009775, RefSeq Protein:NP_116218, RefSeq RNA:NM_032829, UniProtKB:Q5U5X8 No chr12 110152187 110208312 109714382 109770509 +PA142672246 55731 HGNC:25563 ENSG00000173065 family with sequence similarity 222 member B FAM222B family with sequence similarity 222, member B C17orf63, FLJ10700 Yes No Ensembl:ENSG00000173065, GeneCard:C17orf63, HGNC:HGNC:25563, HumanCyc Gene:HS16166, ModBase:Q8WU58, NCBI Gene:55731, RefSeq DNA:NT_010799, RefSeq Protein:NP_001070966, RefSeq Protein:NP_060652, RefSeq RNA:NM_001077498, RefSeq RNA:NM_018182, UniProtKB:B3KQ88, UniProtKB:Q8WU58 No chr17 27082996 27169857 28755978 28855036 +PA165757212 100132967 HGNC:30612 ENSG00000279245 family with sequence similarity 223, member A (non-protein coding) FAM223A SPCX Yes No Ensembl:ENSG00000279245, GeneCard:FAM223A, HGNC:HGNC:30612, NCBI Gene:100132967, RefSeq DNA:NT_167198, RefSeq RNA:NR_027401, RefSeq RNA:XR_079511, RefSeq RNA:XR_079549, RefSeq RNA:XR_079581 No chrX 153799479 153800191 154571248 154571960 +PA165757271 286967 HGNC:34048 ENSG00000272681 family with sequence similarity 223, member B (non-protein coding) FAM223B Yes No Ensembl:ENSG00000272681, GeneCard:NCRNA00204B, HGNC:HGNC:34048, NCBI Gene:286967, RefSeq DNA:NT_011726, RefSeq DNA:NT_167198, RefSeq RNA:NR_027402, RefSeq RNA:XR_040189, RefSeq RNA:XR_040190, RefSeq RNA:XR_040191, RefSeq RNA:XR_079512 No chrX 153860736 153861448 154632470 154633182 +PA165791467 401630 HGNC:37736 ENSG00000233522 family with sequence similarity 224, member A (non-protein coding) FAM224A Yes No Ensembl:ENSG00000233522, GeneCard:NCRNA00230A, HGNC:HGNC:37736, NCBI Gene:401630, RefSeq DNA:NT_011875, RefSeq RNA:NR_002161 No chrY 20488419 20492713 18326533 18330827 +PA165791506 401629 HGNC:37737 ENSG00000230663 family with sequence similarity 224, member B (non-protein coding) FAM224B Yes No Ensembl:ENSG00000230663, GeneCard:NCRNA00230B, HGNC:HGNC:37737, NCBI Gene:401629, RefSeq DNA:NT_011875, RefSeq RNA:NR_002160 No chrY 19687041 19691332 17575161 17579452 +PA165585984 286333 HGNC:27855 ENSG00000231528 family with sequence similarity 225, member A (non-protein coding) FAM225A DKFZp686A0127 Yes No Ensembl:ENSG00000231528, GeneCard:NCRNA00256A, HGNC:HGNC:27855, NCBI Gene:286333, RefSeq DNA:NT_008470, RefSeq Protein:XP_001717252, RefSeq Protein:XP_001717263, RefSeq Protein:XP_001718484, RefSeq RNA:NR_024366, RefSeq RNA:XM_001717200, RefSeq RNA:XM_001717211, RefSeq RNA:XM_001718432, RefSeq RNA:XM_379665 No chr9 115875176 115882126 113112896 113119846 +PA165586001 100128385 HGNC:21865 ENSG00000225684 family with sequence similarity 225, member B (non-protein coding) FAM225B Yes No Ensembl:ENSG00000225684, GeneCard:NCRNA00256B, HGNC:HGNC:21865, NCBI Gene:100128385, RefSeq DNA:NT_008470, RefSeq Protein:XP_001717267, RefSeq Protein:XP_001717272, RefSeq Protein:XP_001718481, RefSeq Protein:XP_001719719, RefSeq RNA:NR_024376, RefSeq RNA:XM_001717215, RefSeq RNA:XM_001717220, RefSeq RNA:XM_001718429, RefSeq RNA:XM_001719667, RefSeq RNA:XM_379664 No chr9 115867003 115873957 113104723 113111677 +PA165757293 203429 HGNC:28544 family with sequence similarity 226, member A (non-protein coding) FAM226A MGC34827 Yes No GeneCard:NCRNA00246, HGNC:HGNC:28544, NCBI Gene:203429, RefSeq DNA:NT_011669, RefSeq RNA:NM_152693, RefSeq RNA:NR_026595, RefSeq RNA:XR_039969, RefSeq RNA:XR_039970 No chrX 72161568 72163589 72941728 72943750 +PA165757326 653687 HGNC:31964 ENSG00000269911 family with sequence similarity 226, member B (non-protein coding) FAM226B Yes No Ensembl:ENSG00000269911, GeneCard:NCRNA00246B, HGNC:HGNC:31964, NCBI Gene:653687, RefSeq DNA:NT_011669, RefSeq DNA:NT_011669.16, RefSeq Protein:XP_001715909, RefSeq RNA:NR_026594, RefSeq RNA:XM_001715857, RefSeq RNA:XM_001715857.1, RefSeq RNA:XR_041247, RefSeq RNA:XR_041247.1, RefSeq RNA:XR_041248, RefSeq RNA:XR_041248.1, RefSeq RNA:XR_041249, RefSeq RNA:XR_041249.1 No chrX 71996897 71998919 72777073 72779095 +PA166049113 646851 HGNC:44197 ENSG00000184949 family with sequence similarity 227 member A FAM227A family with sequence similarity 227, member A Yes No Ensembl:ENSG00000184949, HGNC:HGNC:44197, NCBI Gene:646851 No chr22 38974125 39052634 38578120 38656629 +PA142672269 196951 HGNC:26543 ENSG00000166262 family with sequence similarity 227 member B FAM227B family with sequence similarity 227, member B C15orf33, FLJ32800 Yes No Ensembl:ENSG00000166262, GeneCard:C15orf33, HGNC:HGNC:26543, HumanCyc Gene:HS15420, ModBase:Q96M60, NCBI Gene:196951, RefSeq DNA:NT_010194, RefSeq Protein:NP_689860, RefSeq RNA:NM_152647, UniProtKB:Q96M60 No chr15 49618822 49913128 49326997 49620931 +PA164717160 653140 HGNC:34418 ENSG00000186453 family with sequence similarity 228 member A FAM228A family with sequence similarity 228, member A C2orf84, FLJ30851 Yes No Ensembl:ENSG00000186453, GeneCard:FAM228A, HGNC:HGNC:34418, NCBI Gene:653140, RefSeq DNA:NT_022184, RefSeq Protein:NP_001035800, RefSeq RNA:NM_001040710, UniProtKB:Q86W67 No chr2 24397471 24423718 24175043 24191698 +PA166048962 375190 HGNC:24736 ENSG00000219626 family with sequence similarity 228 member B FAM228B family with sequence similarity 228, member B Yes No Ensembl:ENSG00000219626, HGNC:HGNC:24736, NCBI Gene:375190 No chr2 24346350 24392507 24076874 24169638 +PA166049148 100128071 HGNC:44652 ENSG00000225828 family with sequence similarity 229 member A FAM229A family with sequence similarity 229, member A Yes No Ensembl:ENSG00000225828, HGNC:HGNC:44652, NCBI Gene:100128071 No chr1 32826871 32827844 32361270 32362243 +PA162380460 619208 HGNC:33858 ENSG00000203778 family with sequence similarity 229 member B FAM229B family with sequence similarity 229, member B C6orf225, DKFZp586F0922, LOC619208 Yes No Ensembl:ENSG00000203778, GeneCard:C6orf225, HGNC:HGNC:33858, NCBI Gene:619208, RefSeq DNA:NT_025741, RefSeq Protein:NP_001028736, RefSeq RNA:NM_001033564, UniProtKB:Q4G0N7 No chr6 112408674 112423993 112087471 112102790 +PA166352505 HGNC:23446 family with sequence similarity 22, member C FAM22C Yes No HGNC:HGNC:23446 No 0 0 0 0 +PA165505311 26080 HGNC:24482 ENSG00000279516 family with sequence similarity 230, member C FAM230C DKFZP434B061 Yes No Ensembl:ENSG00000279516, GeneCard:NCRNA00281, HGNC:HGNC:24482, NCBI Gene:26080, RefSeq DNA:NT_113923, RefSeq RNA:NR_027278 No chr13 24049 61565 18195297 18232016 +PA166351794 HGNC:49508 family with sequence similarity 231 member C FAM231C Yes No HGNC:HGNC:49508 No 0 0 0 0 +PA25564 83986 HGNC:14163 ENSG00000167930 family with sequence similarity 234 member A FAM234A integrin alpha FG-GAP repeat containing 3 C16orf9, DKFZP761D0211, FLJ32603, ITFG3 Yes No Comparative Toxicogenomics Database:83986, Ensembl:ENSG00000167930, GenAtlas:ITFG3, GeneCard:ITFG3, HGNC:HGNC:14163, HumanCyc Gene:HS09662, ModBase:Q9H0X4, NCBI Gene:83986, RefSeq DNA:NT_010393, RefSeq Protein:NP_114428, RefSeq RNA:NM_032039, UniProtKB:Q9H0X4 No chr16 284758 318960 234546 269943 +PA128395790 57613 HGNC:29288 ENSG00000084444 family with sequence similarity 234 member B FAM234B KIAA1467 Yes No Ensembl:ENSG00000084444, GeneCard:KIAA1467, HGNC:HGNC:29288, ModBase:A2RU67, NCBI Gene:57613, RefSeq DNA:NT_009714, RefSeq Protein:NP_065904, RefSeq RNA:NM_020853, UniProtKB:A2RU67 No chr12 13197300 13236383 12927680 13083449 +PA166180619 100129407 HGNC:44268 ENSG00000275520 family with sequence similarity 236 member A FAM236A family with sequence similarity 235 member A DMRTC1-AS1, LINC00684 Yes No Ensembl:ENSG00000275520, HGNC:HGNC:44268, NCBI Gene:100129407 No 0 0 0 0 +PA166180620 100132304 HGNC:52640 ENSG00000268994 family with sequence similarity 236 member B FAM236B Yes No Ensembl:ENSG00000268994, HGNC:HGNC:52640, NCBI Gene:100132304 No 0 0 0 0 +PA166180621 109729126 HGNC:52641 ENSG00000283594 family with sequence similarity 236 member C FAM236C Yes No Ensembl:ENSG00000283594, HGNC:HGNC:52641, NCBI Gene:109729126 No 0 0 0 0 +PA166180622 105373251 HGNC:52642 ENSG00000225396 family with sequence similarity 236 member D FAM236D Yes No Ensembl:ENSG00000225396, HGNC:HGNC:52642, NCBI Gene:105373251 No 0 0 0 0 +PA166180623 200726 HGNC:52388 ENSG00000235118 family with sequence similarity 237 member A FAM237A Yes No Ensembl:ENSG00000235118, HGNC:HGNC:52388, NCBI Gene:200726 No 0 0 0 0 +PA166182670 107986818 HGNC:53217 ENSG00000283267 family with sequence similarity 237 member B FAM237B Yes No Ensembl:ENSG00000283267, HGNC:HGNC:53217, NCBI Gene:107986818 No 0 0 0 0 +PA166180624 100132146 HGNC:52390 ENSG00000283473 family with sequence similarity 240 member A FAM240A Yes No Ensembl:ENSG00000283473, HGNC:HGNC:52390, NCBI Gene:100132146 No 0 0 0 0 +PA166180625 110806297 HGNC:53430 ENSG00000283329 family with sequence similarity 240 member B FAM240B Yes No Ensembl:ENSG00000283329, HGNC:HGNC:53430, NCBI Gene:110806297 No 0 0 0 0 +PA166182671 114515522, 285095 HGNC:54200 ENSG00000216921 family with sequence similarity 240 member C FAM240C Yes No Ensembl:ENSG00000216921, HGNC:HGNC:54200, NCBI Gene:114515522, NCBI Gene:285095 No 0 0 0 0 +PA162379734 132720 HGNC:26813 ENSG00000174749 family with sequence similarity 241 member A FAM241A chromosome 4 open reading frame 32 C4orf32, FLJ39370 Yes No Ensembl:ENSG00000174749, GeneCard:C4orf32, HGNC:HGNC:26813, HumanCyc Gene:HS16388, NCBI Gene:132720, RefSeq DNA:NT_016354, RefSeq Protein:NP_689613, RefSeq RNA:NM_152400, UniProtKB:Q8N8J7 No chr4 113066553 113110237 112145397 112189081 +PA134863788 219738 HGNC:23519 ENSG00000171224 family with sequence similarity 241 member B FAM241B chromosome 10 open reading frame 35 C10orf35 Yes No Ensembl:ENSG00000171224, GeneCard:C10orf35, HGNC:HGNC:23519, HumanCyc Gene:HS15966, ModBase:Q96D05, NCBI Gene:219738, RefSeq DNA:NT_030059, RefSeq Protein:NP_660349, RefSeq RNA:NM_145306, UniProtKB:Q96D05 No chr10 71390003 71393355 69630241 69633599 +PA166351795 HGNC:53888 family with sequence similarity 243 member B FAM243B Yes No HGNC:HGNC:53888 No 0 0 0 0 +PA166351796 117134598 HGNC:54844 family with sequence similarity 246 member A FAM246A Yes No HGNC:HGNC:54844, NCBI Gene:117134598 No 0 0 0 0 +PA166351797 117134597 HGNC:54843 family with sequence similarity 246 member B FAM246B Yes No HGNC:HGNC:54843, NCBI Gene:117134597 No 0 0 0 0 +PA166351798 117134596 HGNC:54842 family with sequence similarity 246 member C (gene/pseudogene) FAM246C Yes No HGNC:HGNC:54842, NCBI Gene:117134596 No 0 0 0 0 +PA134930660 118670 HGNC:23470 ENSG00000203795 family with sequence similarity 24 member A FAM24A family with sequence similarity 24, member A AC073585.4 Yes No Ensembl:ENSG00000203795, GeneCard:FAM24A, HGNC:HGNC:23470, NCBI Gene:118670, RefSeq DNA:NT_030059, RefSeq Protein:NP_001025059, RefSeq RNA:NM_001029888, UniProtKB:A6NFZ4 No chr10 124670217 124672627 122910595 122913111 +PA134880209 196792 HGNC:23475 ENSG00000213185 family with sequence similarity 24 member B FAM24B family with sequence similarity 24, member B AC073585.2, MGC45962 Yes No Ensembl:ENSG00000213185, GeneCard:FAM24B, HGNC:HGNC:23475, HumanCyc Gene:HS17482, NCBI Gene:196792, RefSeq DNA:NT_030059, RefSeq Protein:NP_001191293, RefSeq Protein:NP_689857, RefSeq RNA:NM_001204364, RefSeq RNA:NM_152644, RefSeq RNA:NR_037911, UniProtKB:Q8N5W8 No chr10 124608610 124639157 122849094 122879641 +PA134895337 643161 HGNC:23436 ENSG00000188100 family with sequence similarity 25 member A FAM25A family with sequence similarity 25, member A bA96C23.5 Yes No Ensembl:ENSG00000188100, GeneCard:FAM25A, HGNC:HGNC:23436, NCBI Gene:643161, RefSeq DNA:NT_030059, RefSeq Protein:NP_001139629, RefSeq Protein:XP_002343046, RefSeq RNA:NM_001146157, RefSeq RNA:XM_002343005 No chr10 88780046 88784487 87020289 87024730 +PA134868713 644054 HGNC:23586 ENSG00000188100, ENSG00000188279, ENSG00000189090, ENSG00000197910 family with sequence similarity 25 member C FAM25C family with sequence similarity 25, member C bA164N7.4 Yes No Ensembl:ENSG00000188100, Ensembl:ENSG00000188279, Ensembl:ENSG00000189090, Ensembl:ENSG00000197910, GeneCard:FAM25C, HGNC:HGNC:23586, NCBI Gene:644054, RefSeq DNA:NT_030059, RefSeq Protein:NP_001131020, RefSeq RNA:NM_001137548, UniProtKB:Q5VTM1 No chr10 49203372 49207825 47995322 47999791 +PA134878442 643479 HGNC:23587 ENSG00000231122 family with sequence similarity 25, member E FAM25E AC012044.5, FAM25D Yes No Ensembl:ENSG00000231122, GeneCard:FAM25E, HGNC:HGNC:23587, NCBI Gene:643479, RefSeq DNA:NT_033985, RefSeq Protein:XP_001718308, RefSeq Protein:XP_002347168, RefSeq Protein:XP_931895, RefSeq RNA:XM_001718256, RefSeq RNA:XM_002347127, RefSeq RNA:XM_926802 No chr10 +PA134883769 100133093 HGNC:23590 ENSG00000189090 family with sequence similarity 25 member G FAM25G family with sequence similarity 25, member G bA301J7.4 Yes No Ensembl:ENSG00000189090, GeneCard:FAM25G, HGNC:HGNC:23590, NCBI Gene:100133093, RefSeq DNA:NT_030772, RefSeq Protein:NP_001131021, RefSeq RNA:NM_001137549 No chr10 48247662 48252126 47487236 47491700 +PA142671890 100133121 HGNC:23667 ENSG00000278763 family with sequence similarity 27, member B FAM27B FAM27A2, bA12A20.3 Yes No Ensembl:ENSG00000278763, GeneCard:FAM27B, HGNC:HGNC:23667, NCBI Gene:100133121, RefSeq DNA:NT_078066, RefSeq RNA:NR_027422, RefSeq RNA:XR_079521 No chr9 67792929 67794189 67725483 67726743 +PA142671891 100132948 HGNC:23668 ENSG00000231527 family with sequence similarity 27, member C FAM27C FAM27A, FAM27A3, bA374M1.5 Yes No Ensembl:ENSG00000231527, GeneCard:FAM27C, HGNC:HGNC:23668, NCBI Gene:100132948, RefSeq DNA:NT_078051, RefSeq Protein:XP_001719324, RefSeq Protein:XP_001719326, RefSeq RNA:NR_027421, RefSeq RNA:XM_001719272, RefSeq RNA:XM_001719274 No chr9 44990236 44991492 61854084 61855340 +PA145148926 724094 HGNC:32015 family with sequence similarity 27, member D1 FAM27D1 OTTHUMG00000013267 Yes No GeneCard:FAM27D1, HGNC:HGNC:32015, NCBI Gene:724094, RefSeq RNA:XR_132873 No chr9 +PA145148933 100289124 HGNC:32013 family with sequence similarity 27, member E2 FAM27E2 FAM27E1 Yes No GeneCard:FAM27E2, HGNC:HGNC:32013, NCBI Gene:100289124, RefSeq DNA:NT_078053, RefSeq RNA:XR_078687, RefSeq RNA:XR_110605 No chr9 45733217 45734983 41647674 41649440 +PA145148939 100131997 HGNC:28655 ENSG00000274026 family with sequence similarity 27, member E3 FAM27E3 MGC42630 Yes No Ensembl:ENSG00000274026, GeneCard:FAM27E3, HGNC:HGNC:28655, ModBase:Q08E93, NCBI Gene:100131997, RefSeq DNA:NT_078066, RefSeq Protein:XP_001720515, RefSeq RNA:XM_001720463, UniProtKB:Q08E93 No chr9 67784944 67786625 67717498 67719179 +PA142672284 9834 HGNC:19955, HGNC:20211 ENSG00000226777 family with sequence similarity 30, member A FAM30A KIAA0125 Yes No Ensembl:ENSG00000226777, GeneCard:FAM30A, HGNC:HGNC:19955, HGNC:HGNC:20211, NCBI Gene:9834, RefSeq Protein:XP_001724524, RefSeq Protein:XP_001725577, RefSeq RNA:XM_001724472, RefSeq RNA:XM_001725525 No chr14 106355985 106398502 105917979 105932642 +PA134956082 26017 HGNC:24563 ENSG00000105058 family with sequence similarity 32 member A FAM32A """family with sequence similarity 32, member A"", ""ovarian tumor associated gene-12""" DKFZP586O0120, OTAG-12 Yes No Ensembl:ENSG00000105058, GeneCard:FAM32A, HGNC:HGNC:24563, HumanCyc Gene:HS12571, NCBI Gene:26017, RefSeq DNA:NT_011295, RefSeq Protein:NP_054796, RefSeq RNA:NM_014077, UniProtKB:Q9Y421 No chr19 16296235 16302857 16185184 16192046 +PA38366 60343 HGNC:13749 ENSG00000071889 FAM3 metabolism regulating signaling molecule A FAM3A """family with sequence similarity 3 member A"", ""family with sequence similarity 3, member A""" 2-19, DXS560S, XAP-7 Yes No Ensembl:ENSG00000071889, GenAtlas:FAM3A, GeneCard:FAM3A, HGNC:HGNC:13749, HumanCyc Gene:HS01043, NCBI Gene:60343, OMIM:300492, RefSeq DNA:NG_016401, RefSeq DNA:NT_167198, RefSeq Protein:NP_001164603, RefSeq Protein:NP_001164604, RefSeq Protein:NP_001164605, RefSeq Protein:NP_068578, RefSeq RNA:NM_001171132, RefSeq RNA:NM_001171133, RefSeq RNA:NM_001171134, RefSeq RNA:NM_021806, RefSeq RNA:NR_033237, UCSC Genome Browser:NM_021806, UniProtKB:A6QRH6, UniProtKB:B4DFI8, UniProtKB:P98173 No chrX 153733323 153744572 154506159 154516249 +PA27979 54097 HGNC:1253 ENSG00000183844 FAM3 metabolism regulating signaling molecule B FAM3B """family with sequence similarity 3 member B"", ""family with sequence similarity 3, member B"", ""pancreatic-derived factor""" 2-21, C21orf11, C21orf76, D21M16SJHU19e, ORF9, PANDER, PRED44 Yes No Ensembl:ENSG00000183844, GenAtlas:FAM3B, GeneCard:FAM3B, HGNC:HGNC:1253, NCBI Gene:54097, OMIM:608617, RefSeq DNA:NT_011512, RefSeq Protein:NP_478066, RefSeq Protein:NP_996847, RefSeq RNA:NM_058186, RefSeq RNA:NM_206964, UCSC Genome Browser:NM_058186, UniProtKB:P58499 No chr21 42688661 42729654 41304229 41357727 +PA38627 10447 HGNC:18664 ENSG00000196937 FAM3 metabolism regulating signaling molecule C FAM3C """family with sequence similarity 3 member C"", ""family with sequence similarity 3, member C"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"", ""predicted osteoblast protein""" GS3876, ILEI Yes No Comparative Toxicogenomics Database:10447, Ensembl:ENSG00000196937, GenAtlas:FAM3C, GeneCard:FAM3C, HGNC:HGNC:18664, HumanCyc Gene:HS10758, NCBI Gene:10447, OMIM:608618, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001035109, RefSeq Protein:NP_055703, RefSeq RNA:NM_001040020, RefSeq RNA:NM_014888, UCSC Genome Browser:NM_014888, UniProtKB:Q92520 No chr7 120988905 121036422 121348851 121396369 +PA38628 131177 HGNC:18665 ENSG00000198643 FAM3 metabolism regulating signaling molecule D FAM3D """Oncoprotein-induced transcript 1"", ""family with sequence similarity 3 member D"", ""family with sequence similarity 3, member D""" EF7, OIT1 Yes No Ensembl:ENSG00000198643, GenAtlas:FAM3D, GeneCard:FAM3D, HGNC:HGNC:18665, NCBI Gene:131177, OMIM:608619, RefSeq DNA:NT_022517, RefSeq Protein:NP_620160, RefSeq RNA:NM_138805, UCSC Genome Browser:NM_138805, UniProtKB:Q96BQ1 No chr3 58619670 58652575 58633943 58666843 +PA165791427 340618 HGNC:23955 ENSG00000224989 family with sequence similarity 41, member A, Y-linked 1 FAM41AY1 Yes No Ensembl:ENSG00000224989, GeneCard:FAM41AY1, HGNC:HGNC:23955, NCBI Gene:340618, RefSeq RNA:NR_028083 No chrY 19612838 19628622 17500958 17516742 +PA165791428 100302526 HGNC:37135 ENSG00000226362 family with sequence similarity 41, member A, Y-linked 2 FAM41AY2 Yes No Ensembl:ENSG00000226362, GeneCard:FAM41AY2, HGNC:HGNC:37135, NCBI Gene:100302526, RefSeq RNA:NR_028084 No chrY 20551156 20566932 18389270 18405046 +PA166351781 HGNC:31688 family with sequence similarity 41, member B, Y-linked FAM41BY Yes No HGNC:HGNC:31688 No 0 0 0 0 +PA134942242 284593 HGNC:27635 ENSG00000230368 family with sequence similarity 41, member C FAM41C Yes No Ensembl:ENSG00000230368, GeneCard:FAM41C, HGNC:HGNC:27635, NCBI Gene:284593, RefSeq DNA:NT_004350, RefSeq DNA:NT_079592, RefSeq RNA:NR_027055 No chr1 803451 812182 868071 876802 +PA134950686 131583 HGNC:26888 ENSG00000185112 family with sequence similarity 43 member A FAM43A family with sequence similarity 43, member A FLJ90022 Yes No Ensembl:ENSG00000185112, GeneCard:FAM43A, HGNC:HGNC:26888, ModBase:Q8N2R8, NCBI Gene:131583, RefSeq DNA:NT_029928, RefSeq Protein:NP_710157, RefSeq RNA:NM_153690, UniProtKB:Q8N2R8 No chr3 194406622 194409766 194685893 194689037 +PA134976508 163933 HGNC:31791 ENSG00000183114 family with sequence similarity 43 member B FAM43B family with sequence similarity 43, member B FLJ44952 Yes No Comparative Toxicogenomics Database:163933, Ensembl:ENSG00000183114, GeneCard:FAM43B, HGNC:HGNC:31791, ModBase:Q6ZT52, NCBI Gene:163933, RefSeq DNA:NT_004610, RefSeq Protein:NP_997217, RefSeq RNA:NM_207334, UniProtKB:Q6ZT52 No chr1 20878932 20881513 20552439 20555020 +PA134944222 158724 HGNC:29962 ENSG00000185448 family with sequence similarity 47 member A FAM47A """family with sequence similarity 47, member A"", ""similar to hypothetical protein FLJ35782""" MGC27003 Yes No Ensembl:ENSG00000185448, GeneCard:FAM47A, HGNC:HGNC:29962, ModBase:Q5JRC9, NCBI Gene:158724, RefSeq DNA:NG_021359, RefSeq DNA:NT_167197, RefSeq Protein:NP_981953, RefSeq RNA:NM_203408, UniProtKB:Q5JRC9 No chrX 34147869 34150447 34129752 34132330 +PA134969396 170062 HGNC:26659 ENSG00000189132 family with sequence similarity 47 member B FAM47B family with sequence similarity 47, member B FLJ35782 Yes No Ensembl:ENSG00000189132, GeneCard:FAM47B, HGNC:HGNC:26659, NCBI Gene:170062, RefSeq DNA:NG_021372, RefSeq DNA:NT_167197, RefSeq Protein:NP_689844, RefSeq RNA:NM_152631, UniProtKB:Q8NA70 No chrX 34960913 34963034 34942796 34944917 +PA145148924 442444 HGNC:25301 ENSG00000198173 family with sequence similarity 47 member C FAM47C family with sequence similarity 47, member C Yes No Ensembl:ENSG00000198173, GeneCard:FAM47C, HGNC:HGNC:25301, ModBase:Q5HY64, NCBI Gene:442444, RefSeq DNA:NG_021373, RefSeq DNA:NT_167197, RefSeq Protein:NP_001013758, RefSeq RNA:NM_001013736, UniProtKB:Q5HY64 No chrX 37026432 37029739 37008359 37011666 +PA162387656 100129583 HGNC:34343 ENSG00000189157 family with sequence similarity 47 member E FAM47E """family with sequence similarity 47, member E"", ""similar to genethonin 1""" FLJ42946, LOC100129583 Yes No Ensembl:ENSG00000189157, GeneCard:FAM47E, HGNC:HGNC:34343, NCBI Gene:100129583, RefSeq DNA:NT_016354, RefSeq Protein:NP_001130042, RefSeq RNA:NM_001136570, UniProtKB:C9JTC9 No chr4 77135193 77204936 76214040 76283783 +PA134984709 9130 HGNC:18786 ENSG00000071859 family with sequence similarity 50 member A FAM50A """DNA segment on chromosome X (unique) 9928 expressed sequence"", ""family with sequence similarity 50, member A""" 9F, DXS9928E, HXC-26, XAP5 Yes No Ensembl:ENSG00000071859, GeneCard:FAM50A, HGNC:HGNC:18786, HumanCyc Gene:HS01041, ModBase:Q14320, NCBI Gene:9130, OMIM:300453, RefSeq DNA:NG_013233, RefSeq DNA:NT_167198, RefSeq Protein:NP_004690, RefSeq RNA:NM_004699, UniProtKB:Q14320 No chrX 153672473 153679002 154444126 154450654 +PA134912073 26240 HGNC:18789 ENSG00000145945 family with sequence similarity 50 member B FAM50B """XAP5 like"", ""family with sequence similarity 50, member B""" D6S2654E, X5L Yes No Ensembl:ENSG00000145945, GeneCard:FAM50B, HGNC:HGNC:18789, HumanCyc Gene:HS14120, ModBase:Q9Y247, NCBI Gene:26240, RefSeq DNA:NT_007592, RefSeq Protein:NP_036267, RefSeq RNA:NM_012135, UniProtKB:Q9Y247 No chr6 3849632 3851551 3831901 3851320 +PA142671887 152877 HGNC:31860 ENSG00000174137 family with sequence similarity 53 member A FAM53A """dorsal neural tube nuclear protein"", ""family with sequence similarity 53, member A""" DNTNP Yes No Ensembl:ENSG00000174137, GeneCard:FAM53A, HGNC:HGNC:31860, ModBase:Q6NSI3, NCBI Gene:152877, RefSeq DNA:NT_006051, RefSeq Protein:NP_001013644, RefSeq Protein:NP_001167541, RefSeq RNA:NM_001013622, RefSeq RNA:NM_001174070, UniProtKB:Q6NSI3 No chr4 1641608 1685988 1574055 1684313 +PA134957918 9679 HGNC:28968 ENSG00000189319 family with sequence similarity 53 member B FAM53B """family with sequence similarity 53, member B"", ""simplet homolog (zebrafish)""" KIAA0140, bA12J10.2, smp Yes No Ensembl:ENSG00000189319, GeneCard:FAM53B, HGNC:HGNC:28968, ModBase:Q14153, NCBI Gene:9679, RefSeq DNA:NT_030059, RefSeq Protein:NP_055476, RefSeq RNA:NM_014661, UniProtKB:Q14153 No chr10 126307861 126432930 124619294 124744361 +PA25917 51307 HGNC:1336 ENSG00000120709 family with sequence similarity 53 member C FAM53C family with sequence similarity 53, member C C5orf6 Yes No Comparative Toxicogenomics Database:51307, Ensembl:ENSG00000120709, GenAtlas:FAM53C, GeneCard:FAM53C, HGNC:HGNC:1336, HumanCyc Gene:HS04428, ModBase:Q9NYF3, NCBI Gene:51307, OMIM:609372, RefSeq DNA:NT_034772, RefSeq Protein:NP_001129119, RefSeq Protein:NP_057689, RefSeq RNA:NM_001135647, RefSeq RNA:NM_016605, UCSC Genome Browser:NM_016605, UniProtKB:Q9NYF3 No chr5 137673224 137685418 138337535 138349729 +PA142671876 100133172 HGNC:30444 ENSG00000227888 family with sequence similarity 66, member A FAM66A Yes No Ensembl:ENSG00000227888, GeneCard:FAM66A, HGNC:HGNC:30444, NCBI Gene:100133172, RefSeq DNA:NT_167187, RefSeq RNA:NR_026789 No chr8 12219528 12268510 12362019 12411001 +PA142671877 100128890 HGNC:28890 ENSG00000215374 family with sequence similarity 66, member B FAM66B Yes No Ensembl:ENSG00000215374, GeneCard:FAM66B, HGNC:HGNC:28890, NCBI Gene:100128890, RefSeq DNA:NT_023736, RefSeq Protein:XP_001714038, RefSeq Protein:XP_001715581, RefSeq Protein:XP_001720541, RefSeq RNA:NR_027423, RefSeq RNA:XM_001713986, RefSeq RNA:XM_001715529, RefSeq RNA:XM_001720489 No chr8 7159133 7212876 7301611 7355354 +PA142671878 440078 HGNC:21644 ENSG00000226711 family with sequence similarity 66, member C FAM66C Yes No Ensembl:ENSG00000226711, GeneCard:FAM66C, HGNC:HGNC:21644, NCBI Gene:440078, RefSeq DNA:NT_009714, RefSeq RNA:NR_026788 No chr12 8332805 8353596 8180209 8201000 +PA142671879 100132923 HGNC:24159 ENSG00000255052 family with sequence similarity 66, member D FAM66D Yes No Ensembl:ENSG00000255052, GeneCard:FAM66D, HGNC:HGNC:24159, NCBI Gene:100132923, RefSeq DNA:NT_077531, RefSeq RNA:NR_027425, RefSeq RNA:XR_079501, RefSeq RNA:XR_079575 No chr8 11973291 12008698 12115782 12151189 +PA142671880 100132103 HGNC:18735 ENSG00000225725 family with sequence similarity 66, member E FAM66E Yes No Ensembl:ENSG00000225725, GeneCard:FAM66E, HGNC:HGNC:18735, NCBI Gene:100132103, RefSeq DNA:NT_077531, RefSeq RNA:NR_027424, RefSeq RNA:XR_079500 No chr8 7812535 7866277 7955013 8008755 +PA142671833 729533 HGNC:24044 ENSG00000196550 family with sequence similarity 72 member A FAM72A """LMP1-induced protein"", ""family with sequence similarity 72, member A""" LMPIP, MGC57827, RP11-312O7.1, UGENE, p17 Yes No Ensembl:ENSG00000196550, GeneCard:FAM72A, HGNC:HGNC:24044, NCBI Gene:729533, RefSeq DNA:NT_086602, RefSeq Protein:NP_001116640, RefSeq RNA:NM_001123168, UniProtKB:Q5TYM5 No chr1 206138911 206155074 206186179 206204918 +PA142671834 653820 HGNC:24805 ENSG00000188610 family with sequence similarity 72 member B FAM72B family with sequence similarity 72, member B RP11-439A17.6 Yes No Ensembl:ENSG00000188610, GeneCard:FAM72B, HGNC:HGNC:24805, NCBI Gene:653820, RefSeq DNA:NT_032977, RefSeq Protein:NP_001094380, RefSeq RNA:NM_001100910, UniProtKB:Q86X60 No chr1 120838959 120855681 121167646 121186896 +PA142671835 554282 HGNC:30602 ENSG00000263513 family with sequence similarity 72 member C FAM72C family with sequence similarity 72, member C RP5-998N21.9 Yes No Ensembl:ENSG00000263513, GeneCard:FAM72C, HGNC:HGNC:30602, NCBI Gene:554282 No chr1 770777 789436 143955364 143974219 +PA162387831 728833 HGNC:33593 ENSG00000215784 family with sequence similarity 72 member D FAM72D family with sequence similarity 72, member D Yes No Ensembl:ENSG00000215784, GeneCard:FAM72D, HGNC:HGNC:33593, NCBI Gene:728833, RefSeq DNA:NT_079485, RefSeq Protein:NP_997301, RefSeq RNA:NM_207418, UniProtKB:Q6L9T8 No chr1 143896452 143913143 145093805 145112696 +PA145148906 401507 HGNC:32029 ENSG00000215112 family with sequence similarity 74, member A1 FAM74A1 Yes No Ensembl:ENSG00000215112, GeneCard:FAM74A1, HGNC:HGNC:32029, NCBI Gene:401507, RefSeq DNA:NT_008413, RefSeq RNA:NR_026803 No chr9 39900200 39907240 39371065 39376916 +PA145148915 728495 HGNC:32031 ENSG00000274355 family with sequence similarity 74, member A3 FAM74A3 OTTHUMG00000067149 Yes No Ensembl:ENSG00000274355, GeneCard:FAM74A3, HGNC:HGNC:32031, NCBI Gene:728495, RefSeq DNA:NT_078041, RefSeq RNA:NR_026801 No chr9 40715524 40722679 66970162 66977317 +PA145148916 401508 HGNC:32032 ENSG00000274583 family with sequence similarity 74, member A4 FAM74A4 FAM74A2, FLJ45202 Yes No Ensembl:ENSG00000274583, GeneCard:FAM74A4, HGNC:HGNC:32032, NCBI Gene:401508, RefSeq DNA:NT_078052, RefSeq RNA:NR_026802 No chr9 65487273 65494386 61205260 61212373 +PA142671837 199870 HGNC:28530 ENSG00000009780 family with sequence similarity 76 member A FAM76A family with sequence similarity 76, member A MGC34648 Yes No Ensembl:ENSG00000009780, GeneCard:FAM76A, HGNC:HGNC:28530, HumanCyc Gene:HS00267, ModBase:Q8TAV0, NCBI Gene:199870, RefSeq DNA:NT_004610, RefSeq Protein:NP_001137384, RefSeq Protein:NP_001137385, RefSeq Protein:NP_001137386, RefSeq Protein:NP_001137387, RefSeq Protein:NP_689873, RefSeq RNA:NM_001143912, RefSeq RNA:NM_001143913, RefSeq RNA:NM_001143914, RefSeq RNA:NM_001143915, RefSeq RNA:NM_152660, UniProtKB:B4DWT3, UniProtKB:Q8TAV0 No chr1 28052490 28089426 27725979 27762915 +PA142671838 143684 HGNC:28492 ENSG00000077458 family with sequence similarity 76 member B FAM76B family with sequence similarity 76, member B MGC33371 Yes No Ensembl:ENSG00000077458, GeneCard:FAM76B, HGNC:HGNC:28492, HumanCyc Gene:HS12250, NCBI Gene:143684, RefSeq DNA:NT_167190, RefSeq Protein:NP_653265, RefSeq RNA:NM_144664, UniProtKB:Q5HYJ3 No chr11 95502106 95522954 95768942 95790396 +PA134970135 286336 HGNC:25465 ENSG00000126882 family with sequence similarity 78 member A FAM78A family with sequence similarity 78, member A C9orf59, FLJ00024 Yes No Ensembl:ENSG00000126882, GeneCard:FAM78A, HGNC:HGNC:25465, ModBase:Q5JUQ0, NCBI Gene:286336, RefSeq DNA:NT_035014, RefSeq Protein:NP_203745, RefSeq RNA:NM_033387, UniProtKB:Q5JUQ0, UniProtKB:Q8N2W3 No chr9 134133465 134151906 131258078 131281930 +PA142671841 149297 HGNC:13495 ENSG00000188859 family with sequence similarity 78 member B FAM78B family with sequence similarity 78, member B Yes No Ensembl:ENSG00000188859, GeneCard:FAM78B, HGNC:HGNC:13495, ModBase:Q5VT40, NCBI Gene:149297, RefSeq DNA:NT_004487, RefSeq Protein:NP_001017961, RefSeq RNA:NM_001017961, UniProtKB:Q5VT40 No chr1 166026663 166135992 166055918 166166755 +PA142671846 145773 HGNC:28379 ENSG00000157470 family with sequence similarity 81 member A FAM81A family with sequence similarity 81, member A MGC26690 Yes No Ensembl:ENSG00000157470, GeneCard:FAM81A, HGNC:HGNC:28379, HumanCyc Gene:HS14662, NCBI Gene:145773, RefSeq DNA:NT_010194, RefSeq Protein:NP_689663, RefSeq RNA:NM_152450, UniProtKB:Q8TBF8 No chr15 59730372 59815751 59399662 59523555 +PA142671847 153643 HGNC:26335 ENSG00000153347 family with sequence similarity 81 member B FAM81B family with sequence similarity 81, member B FLJ25333 Yes No Ensembl:ENSG00000153347, GeneCard:FAM81B, HGNC:HGNC:26335, HumanCyc Gene:HS14466, ModBase:Q96LP2, NCBI Gene:153643, RefSeq DNA:NT_034772, RefSeq Protein:NP_689761, RefSeq RNA:NM_152548, UniProtKB:Q96LP2 No chr5 94727048 94786145 95384793 95450441 +PA142671851 84985 HGNC:28210 ENSG00000147689 family with sequence similarity 83 member A FAM83A family with sequence similarity 83, member A BJ-TSA-9, MGC14128 Yes No Ensembl:ENSG00000147689, GeneCard:FAM83A, HGNC:HGNC:28210, HumanCyc Gene:HS14216, ModBase:Q86UY5, NCBI Gene:84985, RefSeq DNA:NT_008046, RefSeq Protein:NP_116288, RefSeq Protein:NP_996889, RefSeq RNA:NM_032899, RefSeq RNA:NM_207006, UniProtKB:Q86UY5 No chr8 124194752 124222318 123179047 123210079 +PA134987811 222584 HGNC:21357 ENSG00000168143 family with sequence similarity 83 member B FAM83B family with sequence similarity 83, member B C6orf143, FLJ30642 Yes No Comparative Toxicogenomics Database:222584, Ensembl:ENSG00000168143, GeneCard:FAM83B, HGNC:HGNC:21357, ModBase:Q5T0W9, NCBI Gene:222584, RefSeq DNA:NT_007592, RefSeq Protein:NP_001010872, RefSeq RNA:NM_001010872, UniProtKB:Q5T0W9 No chr6 54711569 54809897 54846323 54945099 +PA25669 128876 HGNC:16121 ENSG00000125998 family with sequence similarity 83 member C FAM83C family with sequence similarity 83, member C C20orf128, dJ614O4.7 Yes No Ensembl:ENSG00000125998, GenAtlas:FAM83C, GeneCard:FAM83C, HGNC:HGNC:16121, ModBase:Q9BQN1, NCBI Gene:128876, RefSeq DNA:NT_011362, RefSeq Protein:NP_848563, RefSeq RNA:NM_178468, UCSC Genome Browser:NM_178468, UniProtKB:Q14D67, UniProtKB:Q9BQN1 No chr20 33873534 33880225 35285731 35292422 +PA164723723 140846 HGNC:16113 ENSG00000235214 FAM83C antisense RNA 1 FAM83C-AS1 dJ614O4.3 Yes No Ensembl:ENSG00000235214, GeneCard:NCRNA00154, HGNC:HGNC:16113, NCBI Gene:140846 No chr20 +PA25670 81610 HGNC:16122 ENSG00000101447 family with sequence similarity 83 member D FAM83D family with sequence similarity 83, member D C20orf129, CHICA, dJ616B8.3 Yes No Ensembl:ENSG00000101447, GenAtlas:FAM83D, GeneCard:FAM83D, HGNC:HGNC:16122, HumanCyc Gene:HS12456, ModBase:Q9BVM8, NCBI Gene:81610, RefSeq DNA:NT_011362, RefSeq Protein:NP_112181, RefSeq RNA:NM_030919, UCSC Genome Browser:NM_030919, UniProtKB:Q9H4H8 No chr20 37554955 37581703 38926312 38953060 +PA142671852 54854 HGNC:25972 ENSG00000105523 family with sequence similarity 83 member E FAM83E family with sequence similarity 83, member E FLJ20200 Yes No Ensembl:ENSG00000105523, GeneCard:FAM83E, HGNC:HGNC:25972, HumanCyc Gene:HS12593, ModBase:Q2M2I3, NCBI Gene:54854, RefSeq DNA:NT_011109, RefSeq Protein:NP_060178, RefSeq RNA:NM_017708, UniProtKB:Q2M2I3 No chr19 49103857 49118098 48600600 48614841 +PA142671853 113828 HGNC:25148 ENSG00000133477 family with sequence similarity 83 member F FAM83F family with sequence similarity 83, member F Yes No Ensembl:ENSG00000133477, GeneCard:FAM83F, HGNC:HGNC:25148, HumanCyc Gene:HS13479, ModBase:Q8NEG4, NCBI Gene:113828, RefSeq DNA:NT_011520, RefSeq Protein:NP_612444, RefSeq RNA:NM_138435, UniProtKB:Q8NEG4 No chr22 40390953 40426043 39994949 40030039 +PA144596433 644815 HGNC:32554 ENSG00000188522 family with sequence similarity 83 member G FAM83G """family with sequence similarity 83, member G"", ""protein associated with SMAD1""" FLJ41564, PAWS1 Yes No Ensembl:ENSG00000188522, GeneCard:FAM83G, HGNC:HGNC:32554, ModBase:A6ND36, NCBI Gene:644815, RefSeq DNA:NT_010718, RefSeq Protein:NP_001035088, RefSeq RNA:NM_001039999, UniProtKB:A6ND36 No chr17 18874381 18908060 18968789 19006144 +PA144596434 286077 HGNC:24797 ENSG00000180921 family with sequence similarity 83 member H FAM83H family with sequence similarity 83, member H FLJ46072 Yes No Comparative Toxicogenomics Database:286077, Ensembl:ENSG00000180921, GeneCard:FAM83H, HGNC:HGNC:24797, NCBI Gene:286077, OMIM:130900, OMIM:611927, RefSeq DNA:NG_016652, RefSeq DNA:NT_008046, RefSeq Protein:NP_940890, RefSeq RNA:NM_198488, UniProtKB:Q6ZRV2 No chr8 144806103 144822710 143723933 143739947 +PA142671856 619423 HGNC:17606 family with sequence similarity 85, member A FAM85A Yes No GeneCard:FAM85A, HGNC:HGNC:17606, NCBI Gene:619423, RefSeq RNA:XR_110590 No chr8 12051802 12060118 12194248 12204845 +PA142671857 105379219 HGNC:32160 ENSG00000253893 family with sequence similarity 85, member B FAM85B Yes No Ensembl:ENSG00000253893, GeneCard:FAM85B, HGNC:HGNC:32160, NCBI Gene:105379219 No chr8 +PA142671859 85002 HGNC:28268 ENSG00000186523 family with sequence similarity 86 member B1 (gene/pseudogene) FAM86B1 """family with sequence similarity 86 member B1"", ""family with sequence similarity 86, member B1""" MGC16279 Yes No Ensembl:ENSG00000186523, GeneCard:FAM86B1, HGNC:HGNC:28268, ModBase:Q8N7N1, NCBI Gene:85002, RefSeq DNA:NT_077531, RefSeq Protein:NP_001077006, RefSeq RNA:NM_001083537, RefSeq RNA:NR_003494, UniProtKB:Q8N7N1 No chr8 12039613 12051624 12182104 12194118 +PA142671860 653333 HGNC:32222 ENSG00000145002 family with sequence similarity 86 member B2 FAM86B2 family with sequence similarity 86, member B2 Yes No Ensembl:ENSG00000145002, GeneCard:FAM86B2, HGNC:HGNC:32222, ModBase:P0C5J1, NCBI Gene:653333, RefSeq DNA:NT_167187, RefSeq Protein:NP_001131082, RefSeq Protein:XP_001715341, RefSeq RNA:NM_001137610, RefSeq RNA:XM_001715289, UniProtKB:P0C5J1 No chr8 12283064 12293909 12424419 12436418 +PA145008455 692099 HGNC:32659 ENSG00000244026 family with sequence similarity 86, member D, pseudogene FAM86DP Yes No Ensembl:ENSG00000244026, HGNC:HGNC:32659, NCBI Gene:692099, RefSeq DNA:NT_022459, RefSeq RNA:NR_024241, RefSeq RNA:XR_017820, RefSeq RNA:XR_017899, RefSeq RNA:XR_039934 No chr3 75470703 75484266 75421552 75435115 +PA142671792 157693 HGNC:27233 ENSG00000182366 family with sequence similarity 87, member A FAM87A Yes No Ensembl:ENSG00000182366, GeneCard:FAM87A, HGNC:HGNC:27233, NCBI Gene:157693, RefSeq DNA:NT_023736, RefSeq RNA:XR_078384, RefSeq RNA:XR_079045, RefSeq RNA:XR_079228, RefSeq RNA:XR_110087 No chr8 325931 333174 375931 383174 +PA142671793 400728 HGNC:32236 ENSG00000177757 family with sequence similarity 87, member B FAM87B FLJ40008 Yes No Ensembl:ENSG00000177757, GeneCard:FAM87B, HGNC:HGNC:32236, NCBI Gene:400728, RefSeq RNA:XR_078896, RefSeq RNA:XR_108280 No chr1 752751 755214 817371 819834 +PA142671794 375061 HGNC:25057 ENSG00000182118 family with sequence similarity 89 member A FAM89A family with sequence similarity 89, member A C1orf153, MGC15887 Yes No Comparative Toxicogenomics Database:375061, Ensembl:ENSG00000182118, GeneCard:FAM89A, HGNC:HGNC:25057, ModBase:Q96GI7, NCBI Gene:375061, RefSeq DNA:NT_167186, RefSeq Protein:NP_940954, RefSeq RNA:NM_198552, UniProtKB:Q96GI7 No chr1 231154704 231175995 231018958 231040249 +PA142671795 23625 HGNC:16708 ENSG00000176973 family with sequence similarity 89 member B FAM89B """Mammary Tumor Virus Receptor Homolog 1"", ""family with sequence similarity 89, member B"", ""leucine repeat adaptor protein 25""" LRAP25, MTVR1 Yes No Ensembl:ENSG00000176973, GeneCard:FAM89B, HGNC:HGNC:16708, HumanCyc Gene:HS11113, NCBI Gene:23625, RefSeq DNA:NT_167190, RefSeq Protein:NP_001092254, RefSeq Protein:NP_001092255, RefSeq Protein:NP_690045, RefSeq RNA:NM_001098784, RefSeq RNA:NM_001098785, RefSeq RNA:NM_152832, UniProtKB:Q8N5H3 No chr11 65339820 65341669 65572349 65574198 +PA27986 51439 HGNC:16372 ENSG00000137414 family with sequence similarity 8 member A1 FAM8A1 family with sequence similarity 8, member A1 AHCP Yes No Ensembl:ENSG00000137414, GenAtlas:FAM8A1, GeneCard:FAM8A1, HGNC:HGNC:16372, HumanCyc Gene:HS13678, ModBase:Q9UBU6, NCBI Gene:51439, RefSeq DNA:NT_007592, RefSeq Protein:NP_057339, RefSeq RNA:NM_016255, UCSC Genome Browser:NM_016255, UniProtKB:Q9UBU6 No chr6 17600518 17611950 17600287 17611719 +PA27987 728097 HGNC:16373 ENSG00000254722 family with sequence similarity 8, member A2 pseudogene FAM8A2P Yes No Ensembl:ENSG00000254722, GenAtlas:FAM8A2P, GeneCard:FAM8A2P, HGNC:HGNC:16373, NCBI Gene:728097, RefSeq DNA:NG_009310, RefSeq DNA:NT_167190 No chr11 56095320 56100703 56330907 56332539 +PA27988 100129594 HGNC:16374 ENSG00000224337 family with sequence similarity 8, member A3 pseudogene FAM8A3P Yes No Ensembl:ENSG00000224337, GenAtlas:FAM8A3P, GeneCard:FAM8A3P, HGNC:HGNC:16374, NCBI Gene:100129594, RefSeq DNA:NG_009311, RefSeq DNA:NT_005403 No chr2 150174907 150181365 149320209 149321882 +PA27989 386726 HGNC:16375 ENSG00000232730 family with sequence similarity 8, member A4 pseudogene FAM8A4P Yes No Ensembl:ENSG00000232730, GenAtlas:FAM8A4P, GeneCard:FAM8A4P, GeneCard:FAM8A8P, HGNC:HGNC:16375, NCBI Gene:386726, RefSeq DNA:NG_003135, RefSeq DNA:NG_023041, RefSeq DNA:NT_011875 No chrY 14442208 14444084 12321577 12323257 +PA27990 114181 HGNC:16376 ENSG00000238101 family with sequence similarity 8, member A5 pseudogene FAM8A5P Yes No Ensembl:ENSG00000238101, GenAtlas:FAM8A5P, GeneCard:FAM8A5P, HGNC:HGNC:16376, NCBI Gene:114181, RefSeq DNA:NG_001298, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167249 No chr6 +PA27991 114182 HGNC:16377 ENSG00000218772 family with sequence similarity 8, member A6 pseudogene FAM8A6P Yes No Ensembl:ENSG00000218772, GenAtlas:FAM8A6P, GeneCard:FAM8A6P, HGNC:HGNC:16377, NCBI Gene:114182, RefSeq DNA:NG_001299, RefSeq DNA:NT_025741 No chr6 134924280 134925377 134603142 134604436 +PA134881975 386725 HGNC:23868 family with sequence similarity 8, member A7 pseudogene FAM8A7P Yes No GeneCard:FAM8A7P, HGNC:HGNC:23868, NCBI Gene:386725, RefSeq DNA:NG_003134, RefSeq DNA:NT_011896 No chrY 8045867 8047208 8177826 8179167 +PA134933989 386727 HGNC:23870 family with sequence similarity 8, member A9 pseudogene FAM8A9P Yes No GeneCard:FAM8A9P, HGNC:HGNC:23870, NCBI Gene:386727, RefSeq DNA:NG_003136, RefSeq DNA:NT_011875 No chrY 22772000 22773948 20610114 20612062 +PA142671796 55138 HGNC:25526 ENSG00000171847 family with sequence similarity 90 member A1 FAM90A1 family with sequence similarity 90, member A1 FLJ10408 Yes No Ensembl:ENSG00000171847, GeneCard:FAM90A1, HGNC:HGNC:25526, HumanCyc Gene:HS10397, NCBI Gene:55138, OMIM:613041, RefSeq DNA:NT_009714, RefSeq Protein:NP_060558, RefSeq RNA:NM_018088, UniProtKB:Q86YD7 No chr12 8373856 8380214 8221260 8227618 +PA166351785 441328 HGNC:32258 family with sequence similarity 90 member A10 FAM90A10 FAM90A10P Yes No HGNC:HGNC:32258, NCBI Gene:441328 No 0 0 0 0 +PA142671806 441331 HGNC:32259 ENSG00000233115 family with sequence similarity 90 member A11 FAM90A11 family with sequence similarity 90, member A11, pseudogene FAM90A11P Yes No Ensembl:ENSG00000233115, HGNC:HGNC:32259, NCBI Gene:441331, RefSeq DNA:NT_077531, RefSeq Protein:XP_496960, RefSeq RNA:XM_496960 No chr8 7869304 7874534 8011782 8017012 +PA142671807 645879 HGNC:32260 ENSG00000254229 family with sequence similarity 90 member A12 FAM90A12 family with sequence similarity 90, member A12, pseudogene FAM90A12P Yes No Ensembl:ENSG00000254229, GeneCard:FAM90A12P, HGNC:HGNC:32260, ModBase:A8MX19, NCBI Gene:645879, OMIM:613048, RefSeq DNA:NT_077531, RefSeq Protein:XP_933946, RefSeq RNA:XM_928853, UniProtKB:A8MX19 No chr8 7884596 7889827 8027074 8032305 +PA142671808 441314 HGNC:32261 ENSG00000223885 family with sequence similarity 90 member A13 FAM90A13 family with sequence similarity 90, member A13, pseudogene FAM90A13P Yes No Ensembl:ENSG00000223885, GeneCard:FAM90A13P, HGNC:HGNC:32261, ModBase:P0C7W8, NCBI Gene:441314, OMIM:613049, RefSeq DNA:NT_023736, RefSeq Protein:NP_001157928, RefSeq Protein:XP_496946, RefSeq RNA:NM_001164456, RefSeq RNA:XM_496946, UniProtKB:P0C7W8 No chr8 7135632 7140864 7278110 7283342 +PA166351786 645651 HGNC:32262 family with sequence similarity 90 member A14 FAM90A14 FAM90A14P Yes No HGNC:HGNC:32262, NCBI Gene:645651 No 0 0 0 0 +PA142671810 389630 HGNC:32263 ENSG00000230045 family with sequence similarity 90 member A15 FAM90A15 family with sequence similarity 90, member A15, pseudogene FAM90A15P Yes No Ensembl:ENSG00000230045, GeneCard:FAM90A15P, HGNC:HGNC:32263, ModBase:P0C7V4, NCBI Gene:389630, OMIM:613051, RefSeq DNA:NT_023736, RefSeq Protein:XP_001726997, RefSeq RNA:XM_001726945, UniProtKB:P0C7V4 No chr8 7112765 7117998 7255243 7260476 +PA166351787 441323 HGNC:32264 family with sequence similarity 90 member A16 FAM90A16 FAM90A16P Yes No HGNC:HGNC:32264, NCBI Gene:441323 No 0 0 0 0 +PA166351788 728746 HGNC:32265 family with sequence similarity 90 member A17 FAM90A17 FAM90A17P Yes No HGNC:HGNC:32265, NCBI Gene:728746 No 0 0 0 0 +PA166351789 441326 HGNC:32266 family with sequence similarity 90 member A18 FAM90A18 FAM90A18P Yes No HGNC:HGNC:32266, NCBI Gene:441326 No 0 0 0 0 +PA166351790 728753 HGNC:32267 family with sequence similarity 90 member A19 FAM90A19 FAM90A19P Yes No HGNC:HGNC:32267, NCBI Gene:728753 No 0 0 0 0 +PA142671815 728430 HGNC:32268 ENSG00000233295 family with sequence similarity 90 member A20 FAM90A20 family with sequence similarity 90, member A20, pseudogene FAM90A20P Yes No Ensembl:ENSG00000233295, GeneCard:FAM90A20P, HGNC:HGNC:32268, ModBase:A6NIJ5, NCBI Gene:728430, OMIM:613054, RefSeq DNA:NT_023736, RefSeq Protein:NP_001157925, RefSeq Protein:XP_001128051, RefSeq Protein:XP_001720570, RefSeq RNA:NM_001164453, RefSeq RNA:XM_001128051, RefSeq RNA:XM_001720518, UniProtKB:A6NIJ5 No chr8 7150876 7156106 7293354 7298584 +PA142671816 619418 HGNC:32269 ENSG00000234749 family with sequence similarity 90, member A21, pseudogene FAM90A21P Yes No Ensembl:ENSG00000234749, GeneCard:FAM90A21P, HGNC:HGNC:32269, NCBI Gene:619418, RefSeq DNA:NG_005998, RefSeq DNA:NT_023736 No chr8 7421310 7426541 7563788 7569019 +PA166351791 645558 HGNC:32270 family with sequence similarity 90 member A22 FAM90A22 FAM90A22P Yes No HGNC:HGNC:32270, NCBI Gene:645558 No 0 0 0 0 +PA166351792 645572 HGNC:32271 family with sequence similarity 90 member A23 FAM90A23 FAM90A23P Yes No HGNC:HGNC:32271, NCBI Gene:645572 No 0 0 0 0 +PA142671819 441332 HGNC:32272 ENSG00000215354 family with sequence similarity 90 member A24 FAM90A24 family with sequence similarity 90, member A24, pseudogene FAM90A24P Yes No Ensembl:ENSG00000215354, GeneCard:FAM90A24P, HGNC:HGNC:32272, NCBI Gene:441332, RefSeq DNA:NG_006004, RefSeq DNA:NT_077531 No chr8 7876948 7882180 8019426 8024658 +PA166180617 100287045 HGNC:43746 ENSG00000229924 family with sequence similarity 90 member A26 FAM90A26 FAM90A26P Yes No Ensembl:ENSG00000229924, HGNC:HGNC:43746, NCBI Gene:100287045 No 0 0 0 0 +PA142671797 729689 HGNC:32250 ENSG00000205879 family with sequence similarity 90, member A2, pseudogene FAM90A2P Yes No Ensembl:ENSG00000205879, GeneCard:FAM90A2P, HGNC:HGNC:32250, NCBI Gene:729689, RefSeq DNA:NG_005959, RefSeq DNA:NT_077531 No chr8 12030963 12034776 12173454 12177267 +PA142671798 389611 HGNC:32251 ENSG00000233132 family with sequence similarity 90 member A3 FAM90A3 family with sequence similarity 90, member A3, pseudogene FAM90A3P Yes No Ensembl:ENSG00000233132, GeneCard:FAM90A3P, HGNC:HGNC:32251, NCBI Gene:389611, OMIM:613042, RefSeq DNA:NT_023736, RefSeq Protein:XP_372013, RefSeq RNA:XM_372013 No chr8 7120388 7125620 7262866 7268098 +PA142671799 441313 HGNC:32252 ENSG00000249005 family with sequence similarity 90, member A4, pseudogene FAM90A4P Yes No Ensembl:ENSG00000249005, HGNC:HGNC:32252, NCBI Gene:441313, RefSeq DNA:NT_023736, RefSeq Protein:XP_496945, RefSeq RNA:XM_496945 No chr8 7128010 7133242 7270488 7275720 +PA142671800 441315 HGNC:32253 ENSG00000215373 family with sequence similarity 90 member A5 FAM90A5 family with sequence similarity 90, member A5, pseudogene FAM90A5P Yes No Ensembl:ENSG00000215373, GeneCard:FAM90A5P, HGNC:HGNC:32253, ModBase:A8MXJ8, NCBI Gene:441315, OMIM:613043, RefSeq DNA:NT_023736, RefSeq Protein:NP_001157927, RefSeq Protein:XP_496947, RefSeq RNA:NM_001164455, RefSeq RNA:XM_496947, UniProtKB:A8MXJ8 No chr8 7143254 7148486 7285732 7290964 +PA142671801 389618 HGNC:32254 ENSG00000248944 family with sequence similarity 90, member A6, pseudogene FAM90A6P Yes No Ensembl:ENSG00000248944, GeneCard:FAM90A6P, HGNC:HGNC:32254, NCBI Gene:389618, RefSeq DNA:NG_006009, RefSeq DNA:NT_023736 No chr8 7406015 7411245 7548493 7553723 +PA166351782 441317 HGNC:32255 family with sequence similarity 90 member A7 FAM90A7 FAM90A7P Yes No HGNC:HGNC:32255, NCBI Gene:441317 No 0 0 0 0 +PA166351783 441324 HGNC:32256 family with sequence similarity 90 member A8 FAM90A8 FAM90A8P Yes No HGNC:HGNC:32256, NCBI Gene:441324 No 0 0 0 0 +PA166351784 441327 HGNC:32257 family with sequence similarity 90 member A9 FAM90A9 FAM90A9P Yes No HGNC:HGNC:32257, NCBI Gene:441327 No 0 0 0 0 +PA142671820 157769 HGNC:26306 ENSG00000176853 family with sequence similarity 91 member A1 FAM91A1 family with sequence similarity 91, member A1 FLJ23790 Yes No Ensembl:ENSG00000176853, GeneCard:FAM91A1, HGNC:HGNC:26306, HumanCyc Gene:HS09191, NCBI Gene:157769, RefSeq DNA:NT_008046, RefSeq Protein:NP_659400, RefSeq RNA:NM_144963, UniProtKB:B6YY23, UniProtKB:Q658Y4 No chr8 124780679 124827692 123768439 123815452 +PA142671822 729182 HGNC:32273 ENSG00000242352 family with sequence similarity 91, member A3 pseudogene FAM91A3P Yes No Ensembl:ENSG00000242352, GeneCard:FAM91A3P, HGNC:HGNC:32273, NCBI Gene:729182, RefSeq DNA:NG_007181, RefSeq DNA:NT_004487 No chr1 149239530 149263301 143766479 143771822 +PA162387927 100133036 HGNC:32318 ENSG00000223839 family with sequence similarity 95, member B1 FAM95B1 DKFZp686P0734 Yes No Ensembl:ENSG00000223839, GeneCard:FAM95B1, HGNC:HGNC:32318, NCBI Gene:100133036, RefSeq DNA:NT_078043, RefSeq RNA:NR_026759 No chr9 42468589 42474238 40323571 40329220 +PA142671777 25940 HGNC:24520 ENSG00000119812 family with sequence similarity 98 member A FAM98A family with sequence similarity 98, member A DKFZP564F0522 Yes No Ensembl:ENSG00000119812, GeneCard:FAM98A, HGNC:HGNC:24520, NCBI Gene:25940, RefSeq DNA:NT_022184, RefSeq Protein:NP_056290, RefSeq RNA:NM_015475, UniProtKB:Q8NCA5 No chr2 33808727 33824362 33583661 33599362 +PA142671778 283742 HGNC:26773 ENSG00000171262 family with sequence similarity 98 member B FAM98B family with sequence similarity 98, member B FLJ38426 Yes No Ensembl:ENSG00000171262, GeneCard:FAM98B, HGNC:HGNC:26773, HumanCyc Gene:HS15970, ModBase:Q52LJ0, NCBI Gene:283742, RefSeq DNA:NT_010194, RefSeq Protein:NP_001035894, RefSeq Protein:NP_775882, RefSeq RNA:NM_001042429, RefSeq RNA:NM_173611, UniProtKB:A8MUW5, UniProtKB:Q52LJ0 No chr15 38746328 38777063 38454127 38487710 +PA142671779 147965 HGNC:27119 ENSG00000130244 family with sequence similarity 98 member C FAM98C family with sequence similarity 98, member C FLJ44669 Yes No Ensembl:ENSG00000130244, GeneCard:FAM98C, HGNC:HGNC:27119, ModBase:Q17RN3, NCBI Gene:147965, RefSeq DNA:NT_011109, RefSeq Protein:NP_777565, RefSeq RNA:NM_174905, UniProtKB:Q17RN3 No chr19 38893775 38899728 38403124 38409088 +PA142671780 387742 HGNC:32368 ENSG00000205866 family with sequence similarity 99, member A (non-protein coding) FAM99A FLJ42833 Yes No Ensembl:ENSG00000205866, GeneCard:FAM99A, HGNC:HGNC:32368, NCBI Gene:387742, RefSeq DNA:NT_009237, RefSeq RNA:NR_026643 No chr11 1686829 1689086 1665599 1667856 +PA142671781 100132464 HGNC:32369 ENSG00000205865 family with sequence similarity 99, member B (non-protein coding) FAM99B DKFZp781M09150 Yes No Ensembl:ENSG00000205865, GeneCard:FAM99B, HGNC:HGNC:32369, NCBI Gene:100132464, RefSeq DNA:NT_009237, RefSeq RNA:NR_026642 No chr11 1704500 1706859 1683270 1685629 +PA27992 171482 HGNC:18403 ENSG00000183304 family with sequence similarity 9 member A FAM9A """family with sequence similarity 9, member A"", ""testis expressed 39A""" TEX39A Yes No Ensembl:ENSG00000183304, GenAtlas:FAM9A, GeneCard:FAM9A, HGNC:HGNC:18403, ModBase:Q8IZU1, NCBI Gene:171482, OMIM:300477, RefSeq DNA:NG_016564, RefSeq DNA:NT_167197, RefSeq Protein:NP_001164657, RefSeq Protein:NP_777611, RefSeq RNA:NM_001171186, RefSeq RNA:NM_174951, UCSC Genome Browser:NM_174951, UniProtKB:Q8IZU1 No chrX 8758836 8769424 8790795 8801383 +PA27993 171483 HGNC:18404 ENSG00000177138 family with sequence similarity 9 member B FAM9B """family with sequence similarity 9, member B"", ""testis expressed 39B""" TEX39B Yes No Ensembl:ENSG00000177138, GenAtlas:FAM9B, GeneCard:FAM9B, HGNC:HGNC:18404, ModBase:Q8IZU0, NCBI Gene:171483, OMIM:300478, RefSeq DNA:NT_167197, RefSeq Protein:NP_995321, RefSeq RNA:NM_205849, UniProtKB:Q8IZU0, UniProtKB:Q8N7Z8 No chrX 8992271 9002168 9024232 9197176 +PA27994 171484 HGNC:18405 ENSG00000187268 family with sequence similarity 9 member C FAM9C """family with sequence similarity 9, member C"", ""testis expressed 39C""" TEX39C Yes No Ensembl:ENSG00000187268, GenAtlas:FAM9C, GeneCard:FAM9C, HGNC:HGNC:18405, NCBI Gene:171484, OMIM:300479, RefSeq DNA:NG_021290, RefSeq DNA:NT_167197, RefSeq Protein:NP_777561, RefSeq RNA:NM_174901, UCSC Genome Browser:NM_174901, UniProtKB:Q8IZT9 No chrX 13053736 13062917 13035617 13044798 +PA165478601 22909 HGNC:29170 ENSG00000198690 FANCD2 and FANCI associated nuclease 1 FAN1 FANCD2/FANCI-associated nuclease 1 KIAA1018, MTMR15 Yes No Ensembl:ENSG00000198690, GeneCard:FAN1, HGNC:HGNC:29170, NCBI Gene:22909, RefSeq DNA:NT_010194, RefSeq DNA:NT_010194.16, RefSeq Protein:NP_001139566, RefSeq Protein:NP_001139567, RefSeq Protein:NP_001139568, RefSeq Protein:NP_055782, RefSeq RNA:NM_001146094, RefSeq RNA:NM_001146095, RefSeq RNA:NM_001146096, RefSeq RNA:NM_014967, RefSeq RNA:NM_014967.3, UniProtKB:A8K4M2, UniProtKB:Q9Y2M0 No chr15 31191703 31235311 30903695 30943108 +PA27995 2175 HGNC:3582 ENSG00000187741 FA complementation group A FANCA Fanconi anemia, complementation group A FA-H, FAA, FACA, FAH, FANCH Yes No Comparative Toxicogenomics Database:2175, Ensembl:ENSG00000187741, GenAtlas:FANCA, GeneCard:FANCA, HGNC:HGNC:3582, ModBase:Q9UEL9, NCBI Gene:2175, OMIM:227650, OMIM:607139, RefSeq DNA:NG_011706, RefSeq DNA:NT_010542, RefSeq Protein:NP_000126, RefSeq Protein:NP_001018122, RefSeq RNA:NM_000135, RefSeq RNA:NM_001018112, UCSC Genome Browser:NM_000135, UniProtKB:O15360, UniProtKB:Q86U55 No chr16 89803959 89883066 89737551 89816658 +PA27996 2187 HGNC:3583 ENSG00000181544 FA complementation group B FANCB Fanconi anemia, complementation group B FAAP95, FAB, FLJ34064 Yes No Comparative Toxicogenomics Database:2187, Ensembl:ENSG00000181544, GenAtlas:FANCB, GeneCard:FANCB, HGNC:HGNC:3583, NCBI Gene:2187, OMIM:300514, OMIM:300515, OMIM:314390, RefSeq DNA:NG_007310, RefSeq DNA:NT_167197, RefSeq Protein:NP_001018123, RefSeq Protein:NP_689846, RefSeq RNA:NM_001018113, RefSeq RNA:NM_152633, UniProtKB:Q8NB91 No chrX 14861529 14891184 14690863 14873255 +PA27997 2176 HGNC:3584 ENSG00000158169 FA complementation group C FANCC Fanconi anemia, complementation group C FA3, FAC, FACC Yes Yes Comparative Toxicogenomics Database:2176, Ensembl:ENSG00000158169, GenAtlas:FANCC, GeneCard:FANCC, HGNC:HGNC:3584, HumanCyc Gene:HS08272, ModBase:Q00597, NCBI Gene:2176, OMIM:227645, RefSeq DNA:NG_011707, RefSeq DNA:NT_008470, RefSeq Protein:NP_000127, RefSeq RNA:NM_000136, UCSC Genome Browser:NM_000136, UniProtKB:Q00597 No chr9 97861336 98079991 95099054 95317730 +PA27999 2177 HGNC:3585 ENSG00000144554 FA complementation group D2 FANCD2 Fanconi anemia, complementation group D2 FA-D2, FACD, FAD, FANCD Yes No Comparative Toxicogenomics Database:2177, Ensembl:ENSG00000144554, GenAtlas:FANCD2, GeneCard:FANCD2, HGNC:HGNC:3585, HumanCyc Gene:HS14033, ModBase:Q9BXW9, NCBI Gene:2177, OMIM:227646, RefSeq DNA:NG_007311, RefSeq DNA:NT_022517, RefSeq Protein:NP_001018125, RefSeq Protein:NP_149075, RefSeq RNA:NM_001018115, RefSeq RNA:NM_033084, UCSC Genome Browser:NM_033084, UniProtKB:Q9BXW9 No chr3 10068113 10143614 10026387 10101937 +PA142672385 115795 HGNC:28623 ENSG00000163705 FANCD2 opposite strand FANCD2OS C3orf24, MGC40179 Yes No Ensembl:ENSG00000163705, GeneCard:C3orf24, HGNC:HGNC:28623, HumanCyc Gene:HS15102, NCBI Gene:115795, RefSeq DNA:NT_022517, RefSeq Protein:NP_001158311, RefSeq Protein:NP_775743, RefSeq RNA:NM_001164839, RefSeq RNA:NM_173472, UniProtKB:Q96PS1 No chr3 10123004 10149975 10081320 10108603 +PA28000 2178 HGNC:3586 ENSG00000112039 FA complementation group E FANCE Fanconi anemia, complementation group E FACE, FAE Yes No Comparative Toxicogenomics Database:2178, Ensembl:ENSG00000112039, GenAtlas:FANCE, GeneCard:FANCE, HGNC:HGNC:3586, HumanCyc Gene:HS03502, ModBase:Q9HB96, NCBI Gene:2178, OMIM:600901, RefSeq DNA:NG_011708, RefSeq DNA:NT_007592, RefSeq Protein:NP_068741, RefSeq RNA:NM_021922, UCSC Genome Browser:NM_021922, UniProtKB:Q9HB96 No chr6 35420116 35434918 35452339 35467106 +PA28001 2188 HGNC:3587 ENSG00000183161 FA complementation group F FANCF Fanconi anemia, complementation group F FAF Yes Yes Comparative Toxicogenomics Database:2188, Ensembl:ENSG00000183161, GenAtlas:FANCF, GeneCard:FANCF, HGNC:HGNC:3587, ModBase:Q9NPI8, NCBI Gene:2188, OMIM:603467, RefSeq DNA:NG_007425, RefSeq DNA:NT_009237, RefSeq Protein:NP_073562, RefSeq RNA:NM_022725, UCSC Genome Browser:NM_022725, UniProtKB:A3KME0, UniProtKB:Q9NPI8 No chr11 22644079 22647387 22622533 22625841 +PA28002 2189 HGNC:3588 ENSG00000221829 FA complementation group G FANCG """DNA repair protein XRCC9"", ""Fanconi anemia, complementation group G"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"", ""X-ray repair, complementing defective, in Chinese hamster, 9""" FAG, XRCC9 Yes No Comparative Toxicogenomics Database:2189, Ensembl:ENSG00000221829, GenAtlas:FANCG, GeneCard:FANCG, HGNC:HGNC:3588, ModBase:O15287, NCBI Gene:2189, OMIM:602956, RefSeq DNA:NG_007312, RefSeq DNA:NT_008413, RefSeq Protein:NP_004620, RefSeq RNA:NM_004629, UCSC Genome Browser:NM_004629, UniProtKB:O15287, UniProtKB:Q53XM5 No chr9 35073833 35080043 35073838 35080016 +PA162387928 55215 HGNC:25568 ENSG00000140525 FA complementation group I FANCI Fanconi anemia, complementation group I FLJ10719, KIAA1794 Yes No Ensembl:ENSG00000140525, GeneCard:FANCI, HGNC:HGNC:25568, NCBI Gene:55215, OMIM:608053, OMIM:609053, OMIM:611360, RefSeq DNA:NG_011736, RefSeq DNA:NT_010274, RefSeq Protein:NP_001106849, RefSeq Protein:NP_060663, RefSeq RNA:NM_001113378, RefSeq RNA:NM_018193, UniProtKB:B3KNW8, UniProtKB:Q9NVI1 No chr15 89785634 89860362 89243954 89317132 +PA134887656 55120 HGNC:20748 ENSG00000115392 FA complementation group L FANCL Fanconi anemia, complementation group L FAAP43, FLJ10335, PHF9, Pog Yes No Comparative Toxicogenomics Database:55120, Ensembl:ENSG00000115392, GeneCard:FANCL, HGNC:HGNC:20748, HumanCyc Gene:HS12844, ModBase:Q9NW38, NCBI Gene:55120, OMIM:608111, RefSeq DNA:NG_007418, RefSeq DNA:NT_022184, RefSeq Protein:NP_001108108, RefSeq Protein:NP_060532, RefSeq RNA:NM_001114636, RefSeq RNA:NM_018062, UniProtKB:Q9NW38 No chr2 58386378 58468515 58159243 58241380 +PA134943156 57697 HGNC:23168 ENSG00000187790 FA complementation group M FANCM Fanconi anemia, complementation group M FAAP250, KIAA1596 Yes No Comparative Toxicogenomics Database:57697, Ensembl:ENSG00000187790, GeneCard:FANCM, HGNC:HGNC:23168, ModBase:Q8IYD8, NCBI Gene:57697, OMIM:609644, RefSeq DNA:NG_007417, RefSeq DNA:NT_026437, RefSeq Protein:NP_065988, RefSeq RNA:NM_020937, UniProtKB:Q8IYD8 No chr14 45605136 45670093 45135939 45200890 +PA134976727 92565 HGNC:23527 ENSG00000203780 fibronectin type III and ankyrin repeat domains 1 FANK1 Yes No Ensembl:ENSG00000203780, GeneCard:FANK1, HGNC:HGNC:23527, ModBase:Q8TC84, NCBI Gene:92565, OMIM:611640, RefSeq DNA:NT_030059, RefSeq Protein:NP_660278, RefSeq RNA:NM_145235, UniProtKB:Q8TC84 No chr10 127585108 127698161 125896539 126009599 +PA28003 2191 HGNC:3590 ENSG00000078098 fibroblast activation protein alpha FAP """fibroblast activation protein, alpha"", ""seprase""" DPPIV Yes No Comparative Toxicogenomics Database:2191, Ensembl:ENSG00000078098, GenAtlas:FAP, GeneCard:FAP, HGNC:HGNC:3590, HumanCyc Gene:HS01271, NCBI Gene:2191, OMIM:600403, RefSeq DNA:NT_005403, RefSeq Protein:NP_004451, RefSeq RNA:NM_004460, UCSC Genome Browser:NM_004460, UniProtKB:Q12884 No chr2 163027194 163100045 162170684 162243535 +PA162388007 84188 HGNC:26222 ENSG00000197601 fatty acyl-CoA reductase 1 FAR1 """fatty acyl CoA reductase 1"", ""short chain dehydrogenase/reductase family 10E, member 1""" FLJ22728, MLSTD2, SDR10E1 Yes No Ensembl:ENSG00000197601, GeneCard:FAR1, HGNC:HGNC:26222, HumanCyc Gene:HS16231, ModBase:Q8WVX9, NCBI Gene:84188, RefSeq DNA:NT_009237, RefSeq Protein:NP_115604, RefSeq RNA:NM_032228, UniProtKB:Q8WVX9 No chr11 13690206 13753893 13668659 13732346 +PA162388036 55711 HGNC:25531 ENSG00000064763 fatty acyl-CoA reductase 2 FAR2 """fatty acyl CoA reductase 2"", ""short chain dehydrogenase/reductase family 10E, member 2""" FLJ10462, MLSTD1, SDR10E2 Yes No Ensembl:ENSG00000064763, GeneCard:FAR2, HGNC:HGNC:25531, HumanCyc Gene:HS12166, ModBase:Q96K12, NCBI Gene:55711, RefSeq DNA:NT_009714, RefSeq Protein:NP_060569, RefSeq RNA:NM_018099, UniProtKB:Q96K12 No chr12 29301936 29488549 29149003 29335616 +PA28004 10160 HGNC:3591 ENSG00000152767 FERM, ARH/RhoGEF and pleckstrin domain protein 1 FARP1 """FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)"", ""glycolysis-associated lncRNA of colorectal cancer"", ""protein phosphatase 1, regulatory subunit 75""" CDEP, GLCC1, MGC87400, PLEKHC2, PPP1R75 Yes Yes Comparative Toxicogenomics Database:10160, Ensembl:ENSG00000152767, GenAtlas:FARP1, GeneCard:FARP1, HGNC:HGNC:3591, HumanCyc Gene:HS07850, ModBase:Q9Y4F1, NCBI Gene:10160, OMIM:602654, RefSeq DNA:NT_009952, RefSeq Protein:NP_001001715, RefSeq Protein:NP_005757, RefSeq RNA:NM_001001715, RefSeq RNA:NM_005766, UCSC Genome Browser:NM_005766, UniProtKB:Q5JVI9, UniProtKB:Q9Y4F1 No chr13 98794893 99102023 98142562 98449773 +PA134873245 9855 HGNC:16460 ENSG00000006607 FERM, ARH/RhoGEF and pleckstrin domain protein 2 FARP2 FERM, RhoGEF and pleckstrin domain protein 2 FIR, FRG, KIAA0793, PLEKHC3 Yes Yes Comparative Toxicogenomics Database:9855, Ensembl:ENSG00000006607, GeneCard:FARP2, HGNC:HGNC:16460, HumanCyc Gene:HS00185, ModBase:O94887, NCBI Gene:9855, RefSeq DNA:NT_005416, RefSeq Protein:NP_055623, RefSeq RNA:NM_014808, UniProtKB:O94887 No chr2 242295664 242434256 241356249 241494842 +PA134954893 10667 HGNC:21062 ENSG00000145982 phenylalanyl-tRNA synthetase 2, mitochondrial FARS2 phenylalanine tRNA ligase 2, mitochondrial FARS1, dJ236A3.1, mtPheRS Yes Yes Comparative Toxicogenomics Database:10667, Ensembl:ENSG00000145982, GeneCard:FARS2, HGNC:HGNC:21062, HumanCyc Gene:HS07306, ModBase:O95363, NCBI Gene:10667, OMIM:611592, RefSeq DNA:NT_007592, RefSeq Protein:NP_006558, RefSeq RNA:NM_006567, UniProtKB:O95363 No chr6 5261251 5771816 5261001 5771592 +PA28005 2193 HGNC:3592 ENSG00000179115 phenylalanyl-tRNA synthetase subunit alpha FARSA """phenylalanine tRNA ligase 1, alpha, cytoplasmic"", ""phenylalanyl-tRNA synthetase, alpha subunit""" CML33, FARSL, FARSLA Yes No Ensembl:ENSG00000179115, GenAtlas:FARSLA, GeneCard:FARSA, GeneCard:FARSLA, HGNC:HGNC:3592, HumanCyc Gene:HS00249, HumanCyc Gene:HS11354, NCBI Gene:2193, OMIM:602918, RefSeq DNA:NT_011295, RefSeq Protein:NP_004452, RefSeq RNA:NM_004461, UCSC Genome Browser:NM_004461, UniProtKB:Q6IBR2, UniProtKB:Q9Y285 No chr19 13033284 13044558 12922470 12933744 +PA162388068 10056 HGNC:17800 ENSG00000116120 phenylalanyl-tRNA synthetase subunit beta FARSB """phenylalanine tRNA ligase 1, beta, cytoplasmic"", ""phenylalanyl-tRNA synthetase, beta subunit""" FARSLB, FRSB, PheHB Yes No Ensembl:ENSG00000116120, GeneCard:FARSB, HGNC:HGNC:17800, HumanCyc Gene:HS03982, ModBase:Q9NSD9, NCBI Gene:10056, OMIM:609690, RefSeq DNA:NT_005403, RefSeq Protein:NP_005678, RefSeq RNA:NM_005687, UniProtKB:Q9NSD9 No chr2 223436162 223520827 222571443 222656355 +PA36613 355 HGNC:11920 ENSG00000026103 Fas cell surface death receptor FAS """Fas (TNF receptor superfamily, member 6)"", ""TNF receptor superfamily member 6""" APO-1, APT1, CD95, FAS1, TNFRSF6 Yes Yes Comparative Toxicogenomics Database:355, Ensembl:ENSG00000026103, GenAtlas:FAS, GeneCard:FAS, HGNC:HGNC:11920, HumanCyc Gene:HS00448, ModBase:P25445, NCBI Gene:355, OMIM:134637, OMIM:601859, RefSeq DNA:NG_009089, RefSeq DNA:NT_030059, RefSeq Protein:NP_000034, RefSeq Protein:NP_690610, RefSeq Protein:NP_690611, RefSeq Protein:NP_690612, RefSeq Protein:NP_690613, RefSeq Protein:NP_690614, RefSeq Protein:NP_690615, RefSeq Protein:NP_690616, RefSeq RNA:NM_000043, RefSeq RNA:NM_152871, RefSeq RNA:NM_152872, RefSeq RNA:NM_152873, RefSeq RNA:NM_152874, RefSeq RNA:NM_152875, RefSeq RNA:NM_152876, RefSeq RNA:NM_152877, RefSeq RNA:NR_028033, RefSeq RNA:NR_028034, RefSeq RNA:NR_028035, RefSeq RNA:NR_028036, UCSC Genome Browser:NM_000043, UniProtKB:P25445, UniProtKB:Q5T9P3 No chr10 90750288 90775542 88968429 89017061 +PA165548681 100302740 HGNC:37128 FAS antisense RNA 1 FAS-AS1 SAF Yes No GeneCard:FAS-AS1, HGNC:HGNC:37128, NCBI Gene:100302740, RefSeq RNA:NR_028371 No chr10 90751179 90752732 88991422 88992975 +PA56 356 HGNC:11936 ENSG00000117560 Fas ligand FASLG Fas ligand (TNF superfamily, member 6) APT1LG1, CD178, FasL, TNFSF6 Yes Yes Comparative Toxicogenomics Database:356, Ensembl:ENSG00000117560, GenAtlas:FASLG, GeneCard:FASLG, HGNC:HGNC:11936, HumanCyc Gene:HS04149, ModBase:P48023, NCBI Gene:356, OMIM:134638, OMIM:152700, RefSeq DNA:NG_007269, RefSeq DNA:NT_004487, RefSeq Protein:NP_000630, RefSeq RNA:NM_000639, UCSC Genome Browser:NM_000639, UniProtKB:P48023, UniProtKB:Q53ZZ1 No chr1 172628185 172636013 172659008 172666873 +PA28006 2194 HGNC:3594 ENSG00000169710 fatty acid synthase FASN """3-hydroxyacyl-[acyl-carrier-protein] dehydratase"", ""3-oxoacyl-[acyl-carrier-protein] reductase"", ""3-oxoacyl-[acyl-carrier-protein] synthase"", ""Acyl-[acyl-carrier-protein] hydrolase"", ""Enoyl-[acyl-carrier-protein] reductase"", ""[Acyl-carrier-protein] S-acetyltransferase"", ""[Acyl-carrier-protein] S-malonyltransferase"", ""short chain dehydrogenase/reductase family 27X, member 1""" FAS, SDR27X1 Yes No Comparative Toxicogenomics Database:2194, Ensembl:ENSG00000169710, GenAtlas:FASN, GeneCard:FASN, HGNC:HGNC:3594, HumanCyc Gene:HS09992, ModBase:P49327, NCBI Gene:2194, OMIM:600212, RefSeq DNA:NT_010663, RefSeq Protein:NP_004095, RefSeq RNA:NM_004104, UCSC Genome Browser:NM_004104, UniProtKB:P49327 No chr17 80036214 80056106 82078338 82098303 +PA142671775 10922 HGNC:24676 ENSG00000164896 Fas activated serine/threonine kinase FASTK Fas-activated serine/threonine kinase FAST Yes No Comparative Toxicogenomics Database:10922, Ensembl:ENSG00000164896, GeneCard:FASTK, HGNC:HGNC:24676, HumanCyc Gene:HS09155, ModBase:Q14296, NCBI Gene:10922, OMIM:606965, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_006703, RefSeq Protein:NP_148936, RefSeq RNA:NM_006712, RefSeq RNA:NM_033015, UniProtKB:Q14296, UniProtKB:Q8IVA0 No chr7 150773708 150777970 151076621 151080883 +PA145148834 79675 HGNC:26150 ENSG00000138399 FAST kinase domains 1 FASTKD1 FLJ21901 Yes No Ensembl:ENSG00000138399, GeneCard:FASTKD1, HGNC:HGNC:26150, HumanCyc Gene:HS13723, NCBI Gene:79675, RefSeq DNA:NT_005403, RefSeq Protein:NP_078898, RefSeq RNA:NM_024622, UniProtKB:Q53R41 No chr2 170386259 170430431 169527879 169573921 +PA134974924 22868 HGNC:29160 ENSG00000118246 FAST kinase domains 2 FASTKD2 KIAA0971 Yes No Ensembl:ENSG00000118246, GeneCard:FASTKD2, HGNC:HGNC:29160, HumanCyc Gene:HS12910, ModBase:Q9NYY8, NCBI Gene:22868, OMIM:220110, OMIM:612322, RefSeq DNA:NG_008984, RefSeq DNA:NT_005403, RefSeq Protein:NP_001129665, RefSeq Protein:NP_001129666, RefSeq Protein:NP_055744, RefSeq RNA:NM_001136193, RefSeq RNA:NM_001136194, RefSeq RNA:NM_014929, UniProtKB:Q9NYY8 No chr2 207630112 207660913 206765388 206868284 +PA145148868 79072 HGNC:28758 ENSG00000124279 FAST kinase domains 3 FASTKD3 FLJ23274, MGC5297 Yes Yes Comparative Toxicogenomics Database:79072, Ensembl:ENSG00000124279, GeneCard:FASTKD3, HGNC:HGNC:28758, HumanCyc Gene:HS13122, NCBI Gene:79072, RefSeq DNA:NT_006576, RefSeq Protein:NP_076996, RefSeq RNA:NM_024091, RefSeq RNA:NR_036553, UniProtKB:Q14CZ7 No chr5 7859272 7869150 7859159 7869037 +PA145148886 60493 HGNC:25790 ENSG00000215251 FAST kinase domains 5 FASTKD5 FLJ13149 Yes No Comparative Toxicogenomics Database:60493, Ensembl:ENSG00000215251, GeneCard:FASTKD5, HGNC:HGNC:25790, ModBase:Q7L8L6, NCBI Gene:60493, RefSeq DNA:NT_011387, RefSeq Protein:NP_068598, RefSeq RNA:NM_021826, UniProtKB:Q7L8L6 No chr20 3127165 3140532 3146519 3159886 +PA164719952 2195 HGNC:3595 ENSG00000083857 FAT atypical cadherin 1 FAT1 FAT tumor suppressor homolog 1 (Drosophila), cadherin-related family member 8 CDHF7, CDHR8, FAT Yes Yes Ensembl:ENSG00000083857, GeneCard:FAT1, HGNC:HGNC:3595, HumanCyc Gene:HS01460, ModBase:Q14517, NCBI Gene:2195, OMIM:600976, RefSeq DNA:NT_016354, RefSeq Protein:NP_005236, RefSeq RNA:NM_005245, UniProtKB:Q14517 No chr4 187508937 187647876 186587783 186726915 +PA28008 170513 HGNC:16582 ENSG00000217809 FAT tumor suppressor homolog 1 (Drosophila) pseudogene 1 FAT1P1 dJ697P8.1 Yes No Ensembl:ENSG00000217809, GenAtlas:FAT1P1, GeneCard:FAT1P1, HGNC:HGNC:16582, NCBI Gene:170513, RefSeq DNA:NG_001036, RefSeq DNA:NT_011387 No chr20 10869233 10869738 10888568 10889090 +PA28009 2196 HGNC:3596 ENSG00000086570 FAT atypical cadherin 2 FAT2 FAT tumor suppressor homolog 2 (Drosophila), cadherin-related family member 9, multiple EGF like domains 1 CDHF8, CDHR9, HFAT2, MEGF1 Yes No Comparative Toxicogenomics Database:2196, Ensembl:ENSG00000086570, GenAtlas:FAT2, GeneCard:FAT2, HGNC:HGNC:3596, HumanCyc Gene:HS01535, ModBase:Q9NYQ8, NCBI Gene:2196, OMIM:604269, RefSeq DNA:NT_029289, RefSeq Protein:NP_001438, RefSeq RNA:NM_001447, UCSC Genome Browser:NM_001447, UniProtKB:Q6PIA2, UniProtKB:Q9NYQ8 No chr5 150883653 150948505 151504092 151594822 +PA134962612 120114 HGNC:23112 ENSG00000165323 FAT atypical cadherin 3 FAT3 FAT tumor suppressor homolog 3 (Drosophila), cadherin-related family member 10 CDHF15, CDHR10, KIAA1989 Yes No Ensembl:ENSG00000165323, GeneCard:FAT3, HGNC:HGNC:23112, NCBI Gene:120114, OMIM:612483, RefSeq DNA:NT_167190, RefSeq Protein:NP_001008781, RefSeq RNA:NM_001008781, UniProtKB:Q8TDW7 No chr11 92047446 92629636 92224636 92896473 +PA134954366 79633 HGNC:23109 ENSG00000196159 FAT atypical cadherin 4 FAT4 FAT tumor suppressor homolog 4 (Drosophila), cadherin-related family member 11 CDHF14, CDHR11, FAT-J Yes No Comparative Toxicogenomics Database:79633, Ensembl:ENSG00000196159, GeneCard:FAT4, HGNC:HGNC:23109, NCBI Gene:79633, OMIM:612411, RefSeq DNA:NT_016354, RefSeq Protein:NP_078858, RefSeq RNA:NM_024582, UniProtKB:B3KU84, UniProtKB:Q6V0I7 No chr4 126237003 126414087 125314913 125492932 +PA134875203 89885 HGNC:24683 ENSG00000147378 fetal and adult testis expressed 1 FATE1 cancer/testis antigen 43 CT43, FATE Yes No Comparative Toxicogenomics Database:89885, Ensembl:ENSG00000147378, GeneCard:FATE1, HGNC:HGNC:24683, HumanCyc Gene:HS14204, ModBase:Q969F0, NCBI Gene:89885, OMIM:300450, RefSeq DNA:NG_016398, RefSeq DNA:NT_167198, RefSeq Protein:NP_149076, RefSeq RNA:NM_033085, UniProtKB:Q969F0 No chrX 150884508 150891666 151716036 151723194 +PA28010 2197 HGNC:3597 ENSG00000149806 FAU ubiquitin like and ribosomal protein S30 fusion FAU """FAU, ubiquitin like and ribosomal protein S30 fusion"", ""Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed"", ""Monoclonal nonspecific suppressor factor beta"", ""ribosomal protein S30""" FLJ22986, Fub1, Fubi, MNSFbeta, RPS30, S30, asr1, eS30 Yes No Comparative Toxicogenomics Database:2197, Ensembl:ENSG00000149806, GenAtlas:FAU, GeneCard:FAU, HGNC:HGNC:3597, HumanCyc Gene:HS07642, ModBase:P35544, NCBI Gene:2197, OMIM:134690, RefSeq DNA:NT_167190, RefSeq Protein:NP_001988, RefSeq RNA:NM_001997, UCSC Genome Browser:NM_001997, UniProtKB:P35544 No chr11 64888099 64889672 65120627 65122200 +PA28011 140623 HGNC:17984 ENSG00000235297 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 1 FAUP1 FAU1P Yes No Ensembl:ENSG00000235297, GenAtlas:FAUP1, GeneCard:FAUP1, HGNC:HGNC:17984, NCBI Gene:140623, RefSeq DNA:NG_001306, RefSeq DNA:NT_025028 No chr18 72057058 72057648 74389823 74390413 +PA134918761 84553 HGNC:20742 ENSG00000146267 failed axon connections homolog, metaxin like GST domain containing FAXC failed axon connections homolog, failed axon connections homolog (Drosophila) C6orf168, MGC2817, dJ273F20 Yes No Ensembl:ENSG00000146267, GeneCard:C6orf168, HGNC:HGNC:20742, HumanCyc Gene:HS14142, ModBase:Q5TGI0, NCBI Gene:84553, RefSeq DNA:NT_025741, RefSeq Protein:NP_115900, RefSeq RNA:NM_032511, UniProtKB:Q5TGI0 No chr6 99720793 99797594 99272915 99350081 +PA25915 10826 HGNC:1334 ENSG00000170271 fatty acid hydroxylase domain containing 2 FAXDC2 C5orf4, FLJ13758 Yes No Comparative Toxicogenomics Database:10826, Ensembl:ENSG00000170271, GenAtlas:C5orf4, GeneCard:C5orf4, HGNC:HGNC:1334, HumanCyc Gene:HS10093, NCBI Gene:10826, RefSeq DNA:NT_029289, RefSeq Protein:NP_057432, RefSeq Protein:NP_115761, RefSeq RNA:NM_016348, RefSeq RNA:NM_032385, UCSC Genome Browser:NM_016348, UniProtKB:Q96IV6 No chr5 154196594 154230213 154817018 154850685 +PA134941499 85302 HGNC:24674 ENSG00000188878 Fas binding factor 1 FBF1 Fas (TNFRSF6) binding factor 1, albatross ALB, FBF-1, FLJ00103, KIAA1863 Yes No Comparative Toxicogenomics Database:85302, Ensembl:ENSG00000188878, GeneCard:FBF1, HGNC:HGNC:24674, NCBI Gene:85302, RefSeq DNA:NT_010783, RefSeq Protein:NP_001074011, RefSeq RNA:NM_001080542, UniProtKB:A6NLR5 No chr17 73905925 73937119 75909574 75938232 +PA134948258 84893 HGNC:13620 ENSG00000134452 F-box DNA helicase 1 FBH1 F-box protein, helicase, 18 FBH1, FBXO18, FLJ14590, Fbx18 Yes No Comparative Toxicogenomics Database:84893, Ensembl:ENSG00000134452, GeneCard:FBXO18, HGNC:HGNC:13620, HumanCyc Gene:HS05871, ModBase:Q96SW7, NCBI Gene:84893, OMIM:607222, RefSeq DNA:NT_008705, RefSeq Protein:NP_116196, RefSeq Protein:NP_835363, RefSeq RNA:NM_032807, RefSeq RNA:NM_178150, UniProtKB:Q8NFZ0 No chr10 5931535 5979558 5889572 5937595 +PA28012 2091 HGNC:3599 ENSG00000105202 fibrillarin FBL FIB, FLRN, Nop1, RNU3IP1 Yes No Comparative Toxicogenomics Database:2091, Ensembl:ENSG00000105202, GenAtlas:FBL, GeneCard:FBL, HGNC:HGNC:3599, HumanCyc Gene:HS02689, ModBase:P22087, NCBI Gene:2091, OMIM:134795, RefSeq DNA:NT_011109, RefSeq Protein:NP_001427, RefSeq RNA:NM_001436, UCSC Genome Browser:NM_001436, UniProtKB:P22087 No chr19 40325093 40337054 39834453 39846414 +PA142671776 54751 HGNC:24686 ENSG00000162458 filamin binding LIM protein 1 FBLIM1 filamin binding LIM protein 1 CAL, FBLP-1, migfilin Yes No Comparative Toxicogenomics Database:54751, Ensembl:ENSG00000162458, GeneCard:FBLIM1, HGNC:HGNC:24686, ModBase:Q8WUP2, NCBI Gene:54751, OMIM:607747, RefSeq DNA:NT_004610, RefSeq Protein:NP_001019386, RefSeq Protein:NP_001019387, RefSeq Protein:NP_060026, RefSeq RNA:NM_001024215, RefSeq RNA:NM_001024216, RefSeq RNA:NM_017556, UniProtKB:Q8WUP2 No chr1 16083107 16113089 15756171 15786590 +PA166180627 345630 HGNC:35458 ENSG00000188573 fibrillarin like 1 FBLL1 LOC345630 Yes No Ensembl:ENSG00000188573, HGNC:HGNC:35458, NCBI Gene:345630 No 0 0 0 0 +PA28013 2192 HGNC:3600 ENSG00000077942 fibulin 1 FBLN1 FBLN Yes No Comparative Toxicogenomics Database:2192, Ensembl:ENSG00000077942, GenAtlas:FBLN1, GeneCard:FBLN1, HGNC:HGNC:3600, HumanCyc Gene:HS01261, ModBase:Q9UGR4, NCBI Gene:2192, OMIM:135820, OMIM:608180, RefSeq DNA:NG_023308, RefSeq DNA:NT_011520, RefSeq Protein:NP_001987, RefSeq Protein:NP_006476, RefSeq Protein:NP_006477, RefSeq Protein:NP_006478, RefSeq RNA:NM_001996, RefSeq RNA:NM_006485, RefSeq RNA:NM_006486, RefSeq RNA:NM_006487, UCSC Genome Browser:NM_001996, UniProtKB:P23142 No chr22 45898719 45997014 45502839 45601134 +PA28014 2199 HGNC:3601 ENSG00000163520 fibulin 2 FBLN2 Yes No Comparative Toxicogenomics Database:2199, Ensembl:ENSG00000163520, GenAtlas:FBLN2, GeneCard:FBLN2, HGNC:HGNC:3601, HumanCyc Gene:HS08869, ModBase:P98095, NCBI Gene:2199, OMIM:135821, RefSeq DNA:NT_022517, RefSeq Protein:NP_001004019, RefSeq Protein:NP_001158507, RefSeq Protein:NP_001989, RefSeq RNA:NM_001004019, RefSeq RNA:NM_001165035, RefSeq RNA:NM_001998, UCSC Genome Browser:NM_001998, UniProtKB:B7Z9C5, UniProtKB:P98095, UniProtKB:Q86V58, UniProtKB:Q8IUI0, UniProtKB:Q9Y3V7 No chr3 13573824 13679922 13549125 13638422 +PA28015 10516 HGNC:3602 ENSG00000140092 fibulin 5 FBLN5 developmental arteries and neural crest EGF-like, embryonic vascular EGF-like repeat-containing protein ARMD3, DANCE, EVEC, UP50 Yes No Comparative Toxicogenomics Database:10516, Ensembl:ENSG00000140092, GenAtlas:FBLN5, GeneCard:FBLN5, HGNC:HGNC:3602, HumanCyc Gene:HS06683, ModBase:Q9UBX5, NCBI Gene:10516, OMIM:123700, OMIM:219100, OMIM:604580, OMIM:608895, RefSeq DNA:NG_008254, RefSeq DNA:NT_026437, RefSeq Protein:NP_006320, RefSeq RNA:NM_006329, UCSC Genome Browser:NM_006329, UniProtKB:Q6IAL4, UniProtKB:Q9UBX5 No chr14 92335755 92414046 91869411 91947702 +PA162388107 129804 HGNC:26740 ENSG00000144152 fibulin 7 FBLN7 FLJ37440, TM14 Yes No Ensembl:ENSG00000144152, GeneCard:FBLN7, HGNC:HGNC:26740, HumanCyc Gene:HS07151, ModBase:Q53RD9, NCBI Gene:129804, OMIM:611551, RefSeq DNA:NT_022135, RefSeq Protein:NP_001121637, RefSeq Protein:NP_694946, RefSeq RNA:NM_001128165, RefSeq RNA:NM_153214, UniProtKB:Q53RD9 No chr2 112895962 112945793 112138385 112254888 +PA28016 2200 HGNC:3603 ENSG00000166147 fibrillin 1 FBN1 Marfan syndrome, asprosin FBN, MASS, MFS1, OCTD, SGS, WMS Yes No Comparative Toxicogenomics Database:2200, Ensembl:ENSG00000166147, GenAtlas:FBN1, GeneCard:FBN1, HGNC:HGNC:3603, HumanCyc Gene:HS09338, ModBase:P35555, NCBI Gene:2200, OMIM:129600, OMIM:134797, OMIM:154700, OMIM:182212, OMIM:184900, OMIM:604308, OMIM:608328, RefSeq DNA:NG_008805, RefSeq DNA:NT_010194, RefSeq Protein:NP_000129, RefSeq RNA:NM_000138, UCSC Genome Browser:NM_000138, UniProtKB:D2JYH6, UniProtKB:P35555 No chr15 48700503 48937985 48408306 48645788 +PA28017 2201 HGNC:3604 ENSG00000138829 fibrillin 2 FBN2 fibrillin 5 CCA, DA9 Yes Yes Comparative Toxicogenomics Database:2201, Ensembl:ENSG00000138829, GenAtlas:FBN2, GeneCard:FBN2, HGNC:HGNC:3604, HumanCyc Gene:HS06572, ModBase:P35556, NCBI Gene:2201, OMIM:121050, OMIM:612570, RefSeq DNA:NG_008750, RefSeq DNA:NT_034772, RefSeq Protein:NP_001990, RefSeq RNA:NM_001999, UCSC Genome Browser:NM_001999, UniProtKB:P35556 No chr5 127593601 127873735 128257908 128538358 +PA38681 84467 HGNC:18794 ENSG00000142449 fibrillin 3 FBN3 KIAA1776 Yes No Ensembl:ENSG00000142449, GenAtlas:FBN3, GeneCard:FBN3, HGNC:HGNC:18794, HumanCyc Gene:HS06924, ModBase:Q75N90, NCBI Gene:84467, OMIM:608529, RefSeq DNA:NT_077812, RefSeq Protein:NP_115823, RefSeq RNA:NM_032447, UCSC Genome Browser:NM_032447, UniProtKB:Q75N90 No chr19 8130286 8214730 8065402 8149846 +PA28018 2203 HGNC:3606 ENSG00000165140 fructose-bisphosphatase 1 FBP1 fructose-1,6-bisphosphatase 1 FBP Yes No Comparative Toxicogenomics Database:2203, Ensembl:ENSG00000165140, GenAtlas:FBP1, GeneCard:FBP1, HGNC:HGNC:3606, HumanCyc Gene:HS09189, ModBase:P09467, NCBI Gene:2203, OMIM:229700, OMIM:611570, RefSeq DNA:NG_008174, RefSeq DNA:NT_008470, RefSeq Protein:NP_000498, RefSeq Protein:NP_001121100, RefSeq RNA:NM_000507, RefSeq RNA:NM_001127628, UCSC Genome Browser:NM_000507, UniProtKB:P09467, UniProtKB:Q2TU34 No chr9 97365415 97402531 94603133 94640257 +PA28019 8789 HGNC:3607 ENSG00000130957 fructose-bisphosphatase 2 FBP2 fructose-1,6-bisphosphatase 2 Yes No Comparative Toxicogenomics Database:8789, Ensembl:ENSG00000130957, GenAtlas:FBP2, GeneCard:FBP2, HGNC:HGNC:3607, HumanCyc Gene:HS05462, ModBase:O00757, NCBI Gene:8789, OMIM:603027, RefSeq DNA:NT_008470, RefSeq Protein:NP_003828, RefSeq RNA:NM_003837, UCSC Genome Browser:NM_003837, UniProtKB:O00757 No chr9 97321002 97356075 94558714 94593832 +PA162388128 64319 HGNC:20442 ENSG00000156860 fibrosin FBRS FBS, FBS1, FLJ11618 Yes No Ensembl:ENSG00000156860, GeneCard:FBRS, HGNC:HGNC:20442, HumanCyc Gene:HS14638, NCBI Gene:64319, OMIM:608601, RefSeq DNA:NT_010393, RefSeq Protein:NP_001098549, RefSeq RNA:NM_001105079, UniProtKB:Q9HAH7 No chr16 30675778 30682131 30658142 30670810 +PA164720011 57666 HGNC:29308 ENSG00000112787 fibrosin like 1 FBRSL1 fibrosin-like 1 KIAA1545 Yes No Ensembl:ENSG00000112787, GeneCard:FBRSL1, HGNC:HGNC:29308, NCBI Gene:57666, RefSeq DNA:NT_024477, RefSeq DNA:NT_113891, RefSeq Protein:NP_001136113, RefSeq RNA:NM_001142641, UniProtKB:Q9HCM7 No chr12 133067041 133161774 132490440 132585188 +PA134934043 54850 HGNC:13611 ENSG00000127452 F-box and leucine rich repeat protein 12 FBXL12 F-box and leucine-rich repeat protein 12 FLJ20188, Fbl12 Yes No Comparative Toxicogenomics Database:54850, Ensembl:ENSG00000127452, GeneCard:FBXL12, HGNC:HGNC:13611, HumanCyc Gene:HS13240, ModBase:Q9NXK8, NCBI Gene:54850, OMIM:609079, RefSeq DNA:NT_011295, RefSeq Protein:NP_060173, RefSeq RNA:NM_017703, UniProtKB:Q9NXK8 No chr19 9920943 9930101 9810267 9820527 +PA134938720 222235 HGNC:21658 ENSG00000161040 F-box and leucine rich repeat protein 13 FBXL13 F-box and leucine-rich repeat protein 13, cilia and flagella associated protein 169 CFAP169, DRC6, Fbl13, MGC21636 Yes No Ensembl:ENSG00000161040, GeneCard:FBXL13, HGNC:HGNC:21658, HumanCyc Gene:HS14847, ModBase:Q8WUG0, NCBI Gene:222235, OMIM:609080, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001104508, RefSeq Protein:NP_659469, RefSeq RNA:NM_001111038, RefSeq RNA:NM_145032, UniProtKB:Q8N1P0, UniProtKB:Q8NEE6 No chr7 102453308 102715288 102699226 103074841 +PA134979350 144699 HGNC:28624 ENSG00000171823 F-box and leucine rich repeat protein 14 FBXL14 F-box and leucine-rich repeat protein 14 Fbl14, MGC40195 Yes No Comparative Toxicogenomics Database:144699, Ensembl:ENSG00000171823, GeneCard:FBXL14, HGNC:HGNC:28624, HumanCyc Gene:HS16028, ModBase:Q8N1E6, NCBI Gene:144699, OMIM:609081, RefSeq DNA:NT_009759, RefSeq Protein:NP_689654, RefSeq RNA:NM_152441, UniProtKB:Q8N1E6 No chr12 1675159 1703331 1565993 1594189 +PA134928704 79176 HGNC:28155 ENSG00000107872 F-box and leucine rich repeat protein 15 FBXL15 F-box and leucine-rich repeat protein 15 FBXO37, Fbl15, MGC11279 Yes No Ensembl:ENSG00000107872, GeneCard:FBXL15, HGNC:HGNC:28155, HumanCyc Gene:HS12662, ModBase:Q9H469, NCBI Gene:79176, OMIM:610287, RefSeq DNA:NT_030059, RefSeq Protein:NP_077302, RefSeq RNA:NM_024326, UniProtKB:Q9H469 No chr10 104178979 104182894 102419222 102423138 +PA25536 146330 HGNC:14150 ENSG00000127585 F-box and leucine rich repeat protein 16 FBXL16 F-box and leucine-rich repeat protein 16 C16orf22, Fbl16, MGC33974 Yes No Ensembl:ENSG00000127585, GenAtlas:FBXL16, GeneCard:FBXL16, HGNC:HGNC:14150, HumanCyc Gene:HS05117, ModBase:Q8N461, NCBI Gene:146330, OMIM:609082, RefSeq DNA:NT_010393, RefSeq Protein:NP_699181, RefSeq RNA:NM_153350, UniProtKB:Q8N461 No chr16 742500 755825 692500 705825 +PA134920563 64839 HGNC:13615 ENSG00000145743 F-box and leucine rich repeat protein 17 FBXL17 F-box and leucine-rich repeat protein 17 DKFZP434C1715, FBXO13, Fbl17, Fbx13 Yes Yes Ensembl:ENSG00000145743, GeneCard:FBXL17, HGNC:HGNC:13615, HumanCyc Gene:HS14104, NCBI Gene:64839, OMIM:609083, RefSeq DNA:NT_034772, RefSeq Protein:NP_001156787, RefSeq Protein:NP_073735, RefSeq RNA:NM_001163315, RefSeq RNA:NM_022824, UniProtKB:Q9UF56 No chr5 107194734 107718080 107859033 108382098 +PA134949446 80028 HGNC:21874 ENSG00000155034 F-box and leucine rich repeat protein 18 FBXL18 F-box and leucine-rich repeat protein 18 FLJ11467, Fbl18 Yes No Ensembl:ENSG00000155034, GeneCard:FBXL18, HGNC:HGNC:21874, HumanCyc Gene:HS14550, NCBI Gene:80028, OMIM:609084, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_079239, RefSeq RNA:NM_024963, UniProtKB:Q96ME1 No chr7 5515428 5553423 5454448 5513813 +PA134911396 54620 HGNC:25300 ENSG00000099364 F-box and leucine rich repeat protein 19 FBXL19 F-box and leucine-rich repeat protein 19, jumonji C domain-containing histone demethylase 1C CXXC11, DKFZp434K0410, Fbl19, JHDM1C Yes Yes Ensembl:ENSG00000099364, GeneCard:FBXL19, HGNC:HGNC:25300, ModBase:Q6PCT2, NCBI Gene:54620, OMIM:609085, RefSeq DNA:NT_010393, RefSeq Protein:NP_001093254, RefSeq RNA:NM_001099784, UniProtKB:Q6PCT2 No chr16 30934392 30960104 30923055 30948783 +PA164723637 283932 HGNC:27557 ENSG00000260852 FBXL19 antisense RNA 1 (head to head) FBXL19-AS1 MGC125469, MGC125470, MGC125472 Yes No Ensembl:ENSG00000260852, GeneCard:NCRNA00095, HGNC:HGNC:27557, NCBI Gene:283932, RefSeq DNA:NT_010393, RefSeq RNA:NR_024348 No chr16 30930640 30934590 30919319 30923269 +PA28021 25827 HGNC:13598 ENSG00000153558 F-box and leucine rich repeat protein 2 FBXL2 F-box and leucine-rich repeat protein 2 FBL2, FBL3 Yes No Comparative Toxicogenomics Database:25827, Ensembl:ENSG00000153558, GenAtlas:FBXL2, GeneCard:FBXL2, HGNC:HGNC:13598, HumanCyc Gene:HS07911, ModBase:Q9UKC9, NCBI Gene:25827, OMIM:605652, RefSeq DNA:NT_022517, RefSeq Protein:NP_001165184, RefSeq Protein:NP_036289, RefSeq RNA:NM_001171713, RefSeq RNA:NM_012157, UCSC Genome Browser:NM_012157, UniProtKB:B4DQV0, UniProtKB:Q9UKC9 No chr3 33318934 33445505 33277422 33422371 +PA134976410 84961 HGNC:24679 ENSG00000108306 F-box and leucine rich repeat protein 20 FBXL20 F-box and leucine-rich repeat protein 20 Fbl2, Fbl20, MGC15482 Yes No Comparative Toxicogenomics Database:84961, Ensembl:ENSG00000108306, GeneCard:FBXL20, HGNC:HGNC:24679, HumanCyc Gene:HS03085, ModBase:Q96IG2, NCBI Gene:84961, OMIM:609086, RefSeq DNA:NT_010783, RefSeq Protein:NP_001171835, RefSeq Protein:NP_116264, RefSeq RNA:NM_001184906, RefSeq RNA:NM_032875, RefSeq RNA:NR_026953, UniProtKB:Q96IG2 No chr17 37408897 37558530 39252644 39402659 +PA28023 26223 HGNC:13600 F-box and leucine rich repeat protein 21 (gene/pseudogene) FBXL21 F-box and leucine-rich repeat protein 21 (gene/pseudogene), F-box and leucine-rich repeat protein 3B, FBXL3B, FBXL3P FBL3B, Fbl21 Yes No GenAtlas:FBXL21, GeneCard:FBXL21, HGNC:HGNC:13600, HumanCyc Gene:HS09107, ModBase:Q9UKT6, NCBI Gene:26223, OMIM:609087, RefSeq DNA:NT_034772, RefSeq Protein:NP_036291, RefSeq RNA:NM_012159, UCSC Genome Browser:NM_012159, UniProtKB:Q3KPF8, UniProtKB:Q9UKT6 No chr5 135266006 135277367 135930317 135941678 +PA134959373 283807 HGNC:27537 ENSG00000197361 F-box and leucine rich repeat protein 22 FBXL22 F-box and leucine-rich repeat protein 22 FLJ39626, Fbl22 Yes No Ensembl:ENSG00000197361, GeneCard:FBXL22, HGNC:HGNC:27537, ModBase:Q6P050, NCBI Gene:283807, OMIM:609088, RefSeq DNA:NT_010194, RefSeq Protein:NP_976307, RefSeq RNA:NM_203373, UniProtKB:Q6P050 No chr15 63889327 63894627 63596225 63608898 +PA28022 26224 HGNC:13599 ENSG00000005812 F-box and leucine rich repeat protein 3 FBXL3 F-box and leucine-rich repeat protein 3 FBL3, FBL3A, FBXL3A Yes No Comparative Toxicogenomics Database:26224, Ensembl:ENSG00000005812, GenAtlas:FBXL3, GeneCard:FBXL3, HGNC:HGNC:13599, HumanCyc Gene:HS00149, ModBase:Q9UKT7, NCBI Gene:26224, OMIM:605653, RefSeq DNA:NT_024524, RefSeq Protein:NP_036290, RefSeq RNA:NM_012158, UCSC Genome Browser:NM_012158, UniProtKB:Q9UKT7 No chr13 77579389 77601331 76992597 77027196 +PA28024 26235 HGNC:13601 ENSG00000112234 F-box and leucine rich repeat protein 4 FBXL4 F-box and leucine-rich repeat protein 4 FBL4, FBL5 Yes No Comparative Toxicogenomics Database:26235, Ensembl:ENSG00000112234, GenAtlas:FBXL4, GeneCard:FBXL4, HGNC:HGNC:13601, HumanCyc Gene:HS03537, ModBase:Q9UKA2, NCBI Gene:26235, OMIM:605654, RefSeq DNA:NT_025741, RefSeq Protein:NP_036292, RefSeq RNA:NM_012160, UCSC Genome Browser:NM_012160, UniProtKB:Q9UKA2 No chr6 99321601 99395882 98868535 98948006 +PA28025 26234 HGNC:13602 ENSG00000118564 F-box and leucine rich repeat protein 5 FBXL5 F-box and leucine-rich repeat protein 5 FBL4, FBL5, FLR1 Yes No Comparative Toxicogenomics Database:26234, Ensembl:ENSG00000118564, GenAtlas:FBXL5, GeneCard:FBXL5, HGNC:HGNC:13602, HumanCyc Gene:HS04235, ModBase:Q9UKA1, NCBI Gene:26234, OMIM:605655, RefSeq DNA:NT_006316, RefSeq Protein:NP_001180463, RefSeq Protein:NP_001180464, RefSeq Protein:NP_036293, RefSeq Protein:NP_277077, RefSeq RNA:NM_001193534, RefSeq RNA:NM_001193535, RefSeq RNA:NM_012161, RefSeq RNA:NM_033535, RefSeq RNA:NR_036464, UCSC Genome Browser:NM_012161, UniProtKB:Q9UKA1 No chr4 15606007 15661487 15604384 15681545 +PA28026 26233 HGNC:13603 ENSG00000182325 F-box and leucine rich repeat protein 6 FBXL6 F-box and leucine-rich repeat protein 6 FBL6 Yes No Ensembl:ENSG00000182325, GenAtlas:FBXL6, GeneCard:FBXL6, HGNC:HGNC:13603, ModBase:Q8N531, NCBI Gene:26233, OMIM:609076, RefSeq DNA:NT_037704, RefSeq Protein:NP_036294, RefSeq Protein:NP_078831, RefSeq RNA:NM_012162, RefSeq RNA:NM_024555, UCSC Genome Browser:NM_012162, UniProtKB:Q8N531 No chr8 145579088 145582183 144355428 144358523 +PA28027 23194 HGNC:13604 ENSG00000183580 F-box and leucine rich repeat protein 7 FBXL7 F-box and leucine-rich repeat protein 7 FBL6, FBL7, KIAA0840 Yes No Comparative Toxicogenomics Database:23194, Ensembl:ENSG00000183580, GenAtlas:FBXL7, GeneCard:FBXL7, HGNC:HGNC:13604, ModBase:Q9UJT9, NCBI Gene:23194, OMIM:605656, RefSeq DNA:NT_006576, RefSeq Protein:NP_036436, RefSeq RNA:NM_012304, UCSC Genome Browser:NM_012304, UniProtKB:Q9UJT9 No chr5 15500305 15939905 15500196 15939796 +PA28028 55336 HGNC:17875 ENSG00000135722 F-box and leucine rich repeat protein 8 FBXL8 F-box and leucine-rich repeat protein 8 Fbl8 Yes No Comparative Toxicogenomics Database:55336, Ensembl:ENSG00000135722, GenAtlas:FBXL8, GeneCard:FBXL8, HGNC:HGNC:17875, HumanCyc Gene:HS13589, ModBase:Q96CD0, NCBI Gene:55336, OMIM:609077, RefSeq DNA:NT_010498, RefSeq Protein:NP_060848, RefSeq RNA:NM_018378, UCSC Genome Browser:NM_018378, UniProtKB:Q96CD0 No chr16 67193891 67198077 67159988 67164174 +PA28030 26267 HGNC:13589 ENSG00000147912 F-box protein 10 FBXO10 FBX10, PRMT11 Yes No Ensembl:ENSG00000147912, GenAtlas:FBXO10, GeneCard:FBXO10, HGNC:HGNC:13589, HumanCyc Gene:HS07484, ModBase:Q9UK96, NCBI Gene:26267, OMIM:609092, RefSeq DNA:NT_008413, RefSeq Protein:NP_036298, RefSeq RNA:NM_012166, UniProtKB:Q59F51, UniProtKB:Q9UK96 No chr9 37510889 37576250 37509920 37576459 +PA28031 80204 HGNC:13590 ENSG00000138081 F-box protein 11 FBXO11 ubiquitin protein ligase E3 component n-recognin 6 FBX11, PRMT9, UBR6 Yes No Comparative Toxicogenomics Database:80204, Ensembl:ENSG00000138081, GenAtlas:FBXO11, GeneCard:FBXO11, HGNC:HGNC:13590, HumanCyc Gene:HS06452, ModBase:Q9NR14, NCBI Gene:80204, OMIM:607871, RefSeq DNA:NG_008397, RefSeq DNA:NT_022184, RefSeq Protein:NP_001177203, RefSeq Protein:NP_036299, RefSeq Protein:NP_061163, RefSeq Protein:NP_079409, RefSeq RNA:NM_001190274, RefSeq RNA:NM_012167, RefSeq RNA:NM_018693, RefSeq RNA:NM_025133, UCSC Genome Browser:NM_012167, UniProtKB:A1L491, UniProtKB:Q86XK2 No chr2 48034059 48133524 47806920 47905793 +PA134894755 201456 HGNC:13617 ENSG00000141665 F-box protein 15 FBXO15 FBX15, MGC39671 Yes No Comparative Toxicogenomics Database:201456, Ensembl:ENSG00000141665, GeneCard:FBXO15, HGNC:HGNC:13617, HumanCyc Gene:HS13903, ModBase:Q8NCQ5, NCBI Gene:201456, OMIM:609093, RefSeq DNA:NT_025028, RefSeq Protein:NP_001136430, RefSeq Protein:NP_689889, RefSeq RNA:NM_001142958, RefSeq RNA:NM_152676, UniProtKB:B3KST3, UniProtKB:Q8NCQ5 No chr18 71740588 71815100 74073343 74147865 +PA134901223 157574 HGNC:13618 ENSG00000214050 F-box protein 16 FBXO16 FBX16 Yes No Ensembl:ENSG00000214050, GeneCard:FBXO16, HGNC:HGNC:13618, ModBase:Q8IX29, NCBI Gene:157574, OMIM:608519, RefSeq DNA:NT_167187, RefSeq Protein:NP_758954, RefSeq RNA:NM_172366, UniProtKB:Q8IX29 No chr8 28285925 28347835 28428408 28490318 +PA38676 115290 HGNC:18754 ENSG00000269190 F-box protein 17 FBXO17 F-box only protein 26 FBG4, FBXO26, FLJ11798, FLJ25205, Fbx17, MGC9379 Yes No Ensembl:ENSG00000269190, GenAtlas:FBXO17, GeneCard:FBXO17, HGNC:HGNC:18754, ModBase:Q96EF6, NCBI Gene:115290, OMIM:609094, RefSeq DNA:NT_011109, RefSeq Protein:NP_079183, RefSeq Protein:NP_680474, RefSeq RNA:NM_024907, RefSeq RNA:NM_148169, UCSC Genome Browser:NM_024907, UniProtKB:Q96EF6 No chr19 39432041 39466453 38941401 38975813 +PA31895 26232 HGNC:13581 ENSG00000116661 F-box protein 2 FBXO2 FBX2, Fbg1, Fbs1, Nfb42, OCP1 Yes No Ensembl:ENSG00000116661, GenAtlas:FBXO2, GenAtlas:OCP1, GeneCard:FBXO2, GeneCard:OCP1, HGNC:HGNC:13581, HumanCyc Gene:HS04029, ModBase:Q9UK22, NCBI Gene:26232, OMIM:607112, RefSeq DNA:NT_021937, RefSeq Protein:NP_036300, RefSeq RNA:NM_012168, UCSC Genome Browser:NM_012168, UniProtKB:Q9UK22 No chr1 11707924 11714888 11648361 11654831 +PA28034 23014 HGNC:13592 ENSG00000135108 F-box protein 21 FBXO21 FBX21, KIAA0875 Yes Yes Comparative Toxicogenomics Database:23014, Ensembl:ENSG00000135108, GenAtlas:FBXO21, GeneCard:FBXO21, HGNC:HGNC:13592, HumanCyc Gene:HS05955, ModBase:O94952, NCBI Gene:23014, OMIM:609095, RefSeq DNA:NT_009775, RefSeq Protein:NP_055817, RefSeq Protein:NP_296373, RefSeq RNA:NM_015002, RefSeq RNA:NM_033624, UCSC Genome Browser:NM_015002, UniProtKB:O94952, UniProtKB:Q4G104, UniProtKB:Q8IUQ5 No chr12 117581278 117628305 117143473 117190500 +PA28035 26263 HGNC:13593 ENSG00000167196 F-box protein 22 FBXO22 FIST domain containing 1 FBX22, FISTC1 Yes No Ensembl:ENSG00000167196, GenAtlas:FBXO22, GeneCard:FBXO22, HGNC:HGNC:13593, HumanCyc Gene:HS09524, ModBase:Q8NEZ5, NCBI Gene:26263, OMIM:609096, RefSeq DNA:NT_010194, RefSeq Protein:NP_036302, RefSeq Protein:NP_671717, RefSeq RNA:NM_012170, RefSeq RNA:NM_147188, RefSeq RNA:NR_037623, UCSC Genome Browser:NM_012170, UniProtKB:Q8NEZ5 No chr15 76196200 76227609 75903859 75937513 +PA28037 26261 HGNC:13595 ENSG00000106336 F-box protein 24 FBXO24 FBX24 Yes No Ensembl:ENSG00000106336, GenAtlas:FBXO24, GeneCard:FBXO24, HGNC:HGNC:13595, HumanCyc Gene:HS02892, ModBase:O75426, NCBI Gene:26261, OMIM:609097, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001156971, RefSeq Protein:NP_036304, RefSeq Protein:NP_277041, RefSeq RNA:NM_001163499, RefSeq RNA:NM_012172, RefSeq RNA:NM_033506, UCSC Genome Browser:NM_012172, UniProtKB:A4D2D3, UniProtKB:B4DX91, UniProtKB:B4DY42, UniProtKB:O75426 No chr7 100183840 100198740 100582490 100601117 +PA28038 26260 HGNC:13596 ENSG00000147364 F-box protein 25 FBXO25 FBX25 Yes No Comparative Toxicogenomics Database:26260, Ensembl:ENSG00000147364, GenAtlas:FBXO25, GeneCard:FBXO25, HGNC:HGNC:13596, HumanCyc Gene:HS07419, ModBase:Q8TCJ0, NCBI Gene:26260, OMIM:609098, RefSeq DNA:NT_023736, RefSeq Protein:NP_036305, RefSeq Protein:NP_904356, RefSeq Protein:NP_904357, RefSeq RNA:NM_012173, RefSeq RNA:NM_183420, RefSeq RNA:NM_183421, UCSC Genome Browser:NM_012173, UniProtKB:Q8TCJ0 No chr8 356808 419876 406808 477967 +PA38675 126433 HGNC:18753 ENSG00000161243 F-box protein 27 FBXO27 Fbg5, Fbx27 Yes No Ensembl:ENSG00000161243, GenAtlas:FBXO27, GeneCard:FBXO27, HGNC:HGNC:18753, HumanCyc Gene:HS14855, ModBase:Q8NI29, NCBI Gene:126433, OMIM:609099, RefSeq DNA:NT_011109, RefSeq Protein:NP_849142, RefSeq RNA:NM_178820, UCSC Genome Browser:NM_178820, UniProtKB:Q8NI29 No chr19 39514661 39523198 39007064 39032596 +PA134876528 23219 HGNC:29046 ENSG00000143756 F-box protein 28 FBXO28 centromere protein 30 CENP-30, FLJ10766, Fbx28, KIAA0483 Yes No Ensembl:ENSG00000143756, GeneCard:FBXO28, HGNC:HGNC:29046, HumanCyc Gene:HS13984, ModBase:Q9NVF7, NCBI Gene:23219, OMIM:609100, RefSeq DNA:NT_167186, RefSeq Protein:NP_001129587, RefSeq Protein:NP_055991, RefSeq RNA:NM_001136115, RefSeq RNA:NM_015176, UniProtKB:Q9NVF7 No chr1 224301789 224349749 224114087 224162047 +PA28040 26273 HGNC:13582 ENSG00000110429 F-box protein 3 FBXO3 FBA, FBX3 Yes No Comparative Toxicogenomics Database:26273, Ensembl:ENSG00000110429, GenAtlas:FBXO3, GeneCard:FBXO3, HGNC:HGNC:13582, HumanCyc Gene:HS03309, ModBase:Q9UK99, NCBI Gene:26273, OMIM:609089, RefSeq DNA:NT_009237, RefSeq Protein:NP_036307, RefSeq Protein:NP_208385, RefSeq RNA:NM_012175, RefSeq RNA:NM_033406, UCSC Genome Browser:NM_012175, UniProtKB:Q49AF1, UniProtKB:Q9UK99 No chr11 33762490 33796071 33740937 33774531 +PA28041 84085 HGNC:15600 ENSG00000118496 F-box protein 30 FBXO30 Fbx30, MGC21674 Yes No Comparative Toxicogenomics Database:84085, Ensembl:ENSG00000118496, GenAtlas:FBXO30, GeneCard:FBXO30, HGNC:HGNC:15600, HumanCyc Gene:HS04223, ModBase:Q8TB52, NCBI Gene:84085, OMIM:609101, RefSeq DNA:NT_025741, RefSeq Protein:NP_115521, RefSeq RNA:NM_032145, UCSC Genome Browser:NM_032145, UniProtKB:Q8TB52 No chr6 146119271 146135929 145798135 145864409 +PA28042 79791 HGNC:16510 ENSG00000103264 F-box protein 31 FBXO31 FBX14, FBXO14, Fbx31, MGC15419 Yes No Comparative Toxicogenomics Database:79791, Ensembl:ENSG00000103264, GenAtlas:FBXO31, GeneCard:FBXO31, HGNC:HGNC:16510, HumanCyc Gene:HS12520, ModBase:Q5XUX0, NCBI Gene:79791, OMIM:609102, RefSeq DNA:NT_010498, RefSeq Protein:NP_079011, RefSeq RNA:NM_024735, RefSeq RNA:NR_024568, UniProtKB:Q5XUX0 No chr16 87362942 87425708 87326987 87392107 +PA28043 114907 HGNC:16731 ENSG00000156804 F-box protein 32 FBXO32 ATROGIN1, Fbx32, MAFbx Yes No Comparative Toxicogenomics Database:114907, Ensembl:ENSG00000156804, GenAtlas:FBXO32, GeneCard:FBXO32, HGNC:HGNC:16731, HumanCyc Gene:HS14635, ModBase:Q969P5, NCBI Gene:114907, OMIM:606604, RefSeq DNA:NT_008046, RefSeq Protein:NP_001229392, RefSeq Protein:NP_478136, RefSeq Protein:NP_680482, RefSeq RNA:NM_001242463, RefSeq RNA:NM_058229, RefSeq RNA:NM_148177, UCSC Genome Browser:NM_058229, UniProtKB:Q0VAQ6, UniProtKB:Q969P5 No chr8 124510127 124553493 123497887 123541253 +PA134861757 254170 HGNC:19833 ENSG00000165355 F-box protein 33 FBXO33 Fbx33 Yes No Ensembl:ENSG00000165355, GeneCard:FBXO33, HGNC:HGNC:19833, ModBase:Q7Z6M2, NCBI Gene:254170, OMIM:609103, OMIM:612560, RefSeq DNA:NT_026437, RefSeq Protein:NP_976046, RefSeq RNA:NM_203301, UniProtKB:Q7Z6M2 No chr14 39865577 39901704 39396373 39432500 +PA134910884 55030 HGNC:20201 ENSG00000178974 F-box protein 34 FBXO34 FLJ20725, Fbx34 Yes No Comparative Toxicogenomics Database:55030, Ensembl:ENSG00000178974, GeneCard:FBXO34, HGNC:HGNC:20201, HumanCyc Gene:HS17170, ModBase:Q9NWN3, NCBI Gene:55030, OMIM:609104, RefSeq DNA:NT_026437, RefSeq Protein:NP_060413, RefSeq Protein:NP_689417, RefSeq RNA:NM_017943, RefSeq RNA:NM_152231, UniProtKB:Q9NWN3 No chr14 55738021 55820329 55271303 55355222 +PA134918778 130888 HGNC:27020 ENSG00000153832 F-box protein 36 FBXO36 FLJ37592, Fbx36 Yes No Comparative Toxicogenomics Database:130888, Ensembl:ENSG00000153832, GeneCard:FBXO36, HGNC:HGNC:27020, ModBase:Q8NEA4, NCBI Gene:130888, OMIM:609105, RefSeq DNA:NT_005403, RefSeq Protein:NP_777559, RefSeq RNA:NM_174899, UniProtKB:B3KVQ6, UniProtKB:Q8NEA4 No chr2 230787023 230877825 229922491 230013109 +PA134929999 81545 HGNC:28844 ENSG00000145868 F-box protein 38 FBXO38 FLJ13962, Fbx38, MOKA, SP329 Yes No Comparative Toxicogenomics Database:81545, Ensembl:ENSG00000145868, GeneCard:FBXO38, HGNC:HGNC:28844, HumanCyc Gene:HS07296, ModBase:Q6PIJ6, NCBI Gene:81545, OMIM:608533, RefSeq DNA:NT_029289, RefSeq Protein:NP_110420, RefSeq Protein:NP_995308, RefSeq RNA:NM_030793, RefSeq RNA:NM_205836, UniProtKB:Q6PIJ6 No chr5 147763498 147822399 148383935 148442836 +PA134889729 162517 HGNC:28565 ENSG00000177294 F-box protein 39 FBXO39 CT144, Fbx39, MGC35179 Yes No Comparative Toxicogenomics Database:162517, Ensembl:ENSG00000177294, GeneCard:FBXO39, HGNC:HGNC:28565, HumanCyc Gene:HS16825, ModBase:Q8N4B4, NCBI Gene:162517, OMIM:609106, RefSeq DNA:NT_010718, RefSeq Protein:NP_694962, RefSeq RNA:NM_153230, UniProtKB:Q8N4B4 No chr17 6679523 6700420 6776184 6798929 +PA28044 26272 HGNC:13583 ENSG00000151876 F-box protein 4 FBXO4 FBX4 Yes No Comparative Toxicogenomics Database:26272, Ensembl:ENSG00000151876, GenAtlas:FBXO4, GeneCard:FBXO4, HGNC:HGNC:13583, HumanCyc Gene:HS07776, ModBase:Q9UKT5, NCBI Gene:26272, OMIM:609090, RefSeq DNA:NT_006576, RefSeq Protein:NP_036308, RefSeq Protein:NP_277019, RefSeq RNA:NM_012176, RefSeq RNA:NM_033484, UCSC Genome Browser:NM_012176, UniProtKB:B3KNA0, UniProtKB:Q9UKT5 No chr5 41925352 41941672 41925249 42040230 +PA134971542 51725 HGNC:29816 ENSG00000163833 F-box protein 40 FBXO40 Fbx40, KIAA1195 Yes No Ensembl:ENSG00000163833, GeneCard:FBXO40, HGNC:HGNC:29816, HumanCyc Gene:HS08951, ModBase:Q9UH90, NCBI Gene:51725, OMIM:609107, RefSeq DNA:NT_005612, RefSeq Protein:NP_057382, RefSeq RNA:NM_016298, UniProtKB:Q9UH90 No chr3 121312170 121349139 121593323 121630292 +PA134946052 150726 HGNC:29409 ENSG00000163013 F-box protein 41 FBXO41 Fbx41, KIAA1940 Yes No Ensembl:ENSG00000163013, GeneCard:FBXO41, HGNC:HGNC:29409, ModBase:Q8TF61, NCBI Gene:150726, OMIM:609108, RefSeq DNA:NT_022184, RefSeq Protein:NP_001073879, RefSeq RNA:NM_001080410, UniProtKB:Q2M1V8, UniProtKB:Q8TF61 No chr2 73481810 73496758 73254682 73284453 +PA134951560 54455 HGNC:29249 ENSG00000037637 F-box protein 42 FBXO42 Fbx42, KIAA1332 Yes No Comparative Toxicogenomics Database:54455, Ensembl:ENSG00000037637, GeneCard:FBXO42, HGNC:HGNC:29249, ModBase:Q6P3S6, NCBI Gene:54455, OMIM:609109, RefSeq DNA:NT_004610, RefSeq Protein:NP_061867, RefSeq RNA:NM_018994, UniProtKB:Q6P3S6 No chr1 16573339 16678965 16246840 16352491 +PA134913061 286151 HGNC:28521 ENSG00000156509 F-box protein 43 FBXO43 Fbx43 Yes No Ensembl:ENSG00000156509, GeneCard:FBXO43, HGNC:HGNC:28521, ModBase:Q4G163, NCBI Gene:286151, OMIM:609110, RefSeq DNA:NT_008046, RefSeq Protein:NP_001025031, RefSeq Protein:NP_001070996, RefSeq RNA:NM_001029860, RefSeq RNA:NM_001077528, RefSeq RNA:NR_036491, UniProtKB:C9J908, UniProtKB:Q4G163 No chr8 101145588 101158099 100133360 100150569 +PA134863106 93611 HGNC:24847 ENSG00000132879 F-box protein 44 FBXO44 FBG3, FBX30, Fbx44, Fbxo6a, MGC14140 Yes No Comparative Toxicogenomics Database:93611, Ensembl:ENSG00000132879, GeneCard:FBXO44, HGNC:HGNC:24847, HumanCyc Gene:HS13453, ModBase:Q9H4M3, NCBI Gene:93611, OMIM:609111, RefSeq DNA:NT_021937, RefSeq Protein:NP_001014765, RefSeq Protein:NP_149438, RefSeq Protein:NP_904319, RefSeq Protein:NP_904320, RefSeq RNA:NM_001014765, RefSeq RNA:NM_033182, RefSeq RNA:NM_183412, RefSeq RNA:NM_183413, UniProtKB:Q9H4M3 No chr1 11714432 11723384 11654375 11663327 +PA134904114 200933 HGNC:29148 ENSG00000174013 F-box protein 45 FBXO45 Fbx45 Yes No Ensembl:ENSG00000174013, GeneCard:FBXO45, HGNC:HGNC:29148, ModBase:P0C2W1, NCBI Gene:200933, OMIM:609112, RefSeq DNA:NT_029928, RefSeq Protein:NP_001099043, RefSeq RNA:NM_001105573, UniProtKB:P0C2W1 No chr3 196295725 196315930 196568854 196589059 +PA134985344 23403 HGNC:25069 ENSG00000177051 F-box protein 46 FBXO46 20D7-FC4, FBXO34L, Fbx46 Yes No Comparative Toxicogenomics Database:23403, Ensembl:ENSG00000177051, GeneCard:FBXO46, HGNC:HGNC:25069, HumanCyc Gene:HS16781, NCBI Gene:23403, OMIM:609117, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073938, RefSeq RNA:NM_001080469 No chr19 46213887 46234151 45710629 45730893 +PA162388157 494188 HGNC:31969 ENSG00000204952 F-box protein 47 FBXO47 Yes No Ensembl:ENSG00000204952, GeneCard:FBXO47, HGNC:HGNC:31969, ModBase:Q5MNV8, NCBI Gene:494188, OMIM:609498, RefSeq DNA:NT_010783, RefSeq Protein:NP_001008777, RefSeq RNA:NM_001008777, UniProtKB:Q5MNV8 No chr17 37092685 37123655 38936278 38967475 +PA162388158 554251 HGNC:33857 ENSG00000204923 F-box protein 48 FBXO48 Yes No Ensembl:ENSG00000204923, GeneCard:FBXO48, HGNC:HGNC:33857, ModBase:Q5FWF7, NCBI Gene:554251, RefSeq DNA:NT_022184, RefSeq Protein:NP_001019851, RefSeq RNA:NM_001024680, UniProtKB:Q5FWF7 No chr2 68689498 68694448 68459419 68467325 +PA28045 26271 HGNC:13584 ENSG00000112029 F-box protein 5 FBXO5 early fission inhibitory protein 1 EMI1, FBX5, Fbxo31 Yes No Comparative Toxicogenomics Database:26271, Ensembl:ENSG00000112029, GenAtlas:FBXO5, GeneCard:FBXO5, HGNC:HGNC:13584, HumanCyc Gene:HS03498, ModBase:Q9UKT4, NCBI Gene:26271, OMIM:606013, RefSeq DNA:NT_025741, RefSeq Protein:NP_001135994, RefSeq Protein:NP_036309, RefSeq RNA:NM_001142522, RefSeq RNA:NM_012177, UCSC Genome Browser:NM_012177, UniProtKB:Q5TF47, UniProtKB:Q9UKT4 No chr6 153291658 153304740 152970523 152983605 +PA28046 26270 HGNC:13585 ENSG00000116663 F-box protein 6 FBXO6 FBG2, FBS2, FBX6, Fbx6b Yes No Comparative Toxicogenomics Database:26270, Ensembl:ENSG00000116663, GenAtlas:FBXO6, GeneCard:FBXO6, HGNC:HGNC:13585, HumanCyc Gene:HS04030, ModBase:Q9NRD1, NCBI Gene:26270, OMIM:605647, RefSeq DNA:NT_021937, RefSeq Protein:NP_060908, RefSeq RNA:NM_018438, UCSC Genome Browser:NM_018438, UniProtKB:Q9NRD1 No chr1 11724150 11734411 11664093 11674354 +PA28047 25793 HGNC:13586 ENSG00000100225 F-box protein 7 FBXO7 FBX7, Fbx, PARK15 Yes No Comparative Toxicogenomics Database:25793, Ensembl:ENSG00000100225, GenAtlas:FBXO7, GeneCard:FBXO7, HGNC:HGNC:13586, HumanCyc Gene:HS02008, ModBase:Q9Y3I1, NCBI Gene:25793, OMIM:260300, OMIM:605648, RefSeq DNA:NG_016001, RefSeq DNA:NT_011520, RefSeq Protein:NP_001028196, RefSeq Protein:NP_036311, RefSeq RNA:NM_001033024, RefSeq RNA:NM_012179, UCSC Genome Browser:NM_012179, UniProtKB:Q9Y3I1 No chr22 32870707 32894818 32474682 32498831 +PA28048 26269 HGNC:13587 ENSG00000164117 F-box protein 8 FBXO8 FBS, FBX8 Yes No Comparative Toxicogenomics Database:26269, Ensembl:ENSG00000164117, GenAtlas:FBXO8, GeneCard:FBXO8, HGNC:HGNC:13587, HumanCyc Gene:HS09020, ModBase:Q9NRD0, NCBI Gene:26269, OMIM:605649, RefSeq DNA:NT_016354, RefSeq Protein:NP_036312, RefSeq RNA:NM_012180, UCSC Genome Browser:NM_012180, UniProtKB:Q8IXA8, UniProtKB:Q9NRD0 No chr4 175157809 175205415 174236658 174284251 +PA28049 26268 HGNC:13588 ENSG00000112146 F-box protein 9 FBXO9 FBX9, NY-REN-57 Yes No Comparative Toxicogenomics Database:26268, Ensembl:ENSG00000112146, GenAtlas:FBXO9, GeneCard:FBXO9, HGNC:HGNC:13588, HumanCyc Gene:HS03523, ModBase:Q9UK97, NCBI Gene:26268, OMIM:609091, RefSeq DNA:NT_007592, RefSeq Protein:NP_036479, RefSeq Protein:NP_258441, RefSeq Protein:NP_258442, RefSeq RNA:NM_012347, RefSeq RNA:NM_033480, RefSeq RNA:NM_033481, UCSC Genome Browser:NM_012347, UniProtKB:Q9UK97 No chr6 52922586 52965671 53057807 53100873 +PA25575 10517 HGNC:1211 ENSG00000171931 F-box and WD repeat domain containing 10 FBXW10 C17orf1, C17orf1A, Fbw10, HREP, SM2SH2 Yes No Ensembl:ENSG00000171931, GenAtlas:FBXW10, GeneCard:FBXW10, HGNC:HGNC:1211, HumanCyc Gene:HS16041, ModBase:Q5XX13, NCBI Gene:10517, OMIM:611679, RefSeq DNA:NT_010718, RefSeq Protein:NP_113644, RefSeq RNA:NM_031456, UCSC Genome Browser:NM_006382, UniProtKB:Q5XX13 No chr17 18647326 18682662 18744013 18779349 +PA166351799 374286 HGNC:14379 F-box and WD repeat domain containing 10B FBXW10B CDRT1, FBXW10P1, HREP, SM25H2 Yes No HGNC:HGNC:14379, NCBI Gene:374286 No 0 0 0 0 +PA28050 23291 HGNC:13607 ENSG00000072803 F-box and WD repeat domain containing 11 FBXW11 BTRC2, BTRCP2, FBXW1B, Fbw11, Fbw1b, Hos, KIAA0696 Yes No Comparative Toxicogenomics Database:23291, Ensembl:ENSG00000072803, GenAtlas:FBXW11, GeneCard:FBXW11, HGNC:HGNC:13607, HumanCyc Gene:HS01083, ModBase:Q9UKB1, NCBI Gene:23291, OMIM:605651, RefSeq DNA:NG_009275, RefSeq DNA:NT_023133, RefSeq Protein:NP_036432, RefSeq Protein:NP_387448, RefSeq Protein:NP_387449, RefSeq RNA:NM_012300, RefSeq RNA:NM_033644, RefSeq RNA:NM_033645, UCSC Genome Browser:NM_012300, UniProtKB:Q9UKB1 No chr5 171288553 171433877 171861549 172006873 +PA28051 54099 HGNC:1145 ENSG00000230870 F-box and WD repeat domain containing 11 pseudogene 1 FBXW11P1 """F-box and WD-40 domain protein 1B pseudogene"", ""beta-transducin repeat containing 2, pseudogene""" Yes No Ensembl:ENSG00000230870, GenAtlas:FBXW11P1, GeneCard:FBXW11P1, HGNC:HGNC:1145, NCBI Gene:54099, RefSeq DNA:NG_000930, RefSeq DNA:NT_011512 No chr21 32999370 33000973 31627057 31628660 +PA134980842 285231 HGNC:20729 ENSG00000164049 F-box and WD repeat domain containing 12 FBXW12 FBXO35, Fbw12 Yes Yes Ensembl:ENSG00000164049, GeneCard:FBXW12, HGNC:HGNC:20729, ModBase:Q6X9E4, NCBI Gene:285231, OMIM:609075, RefSeq DNA:NT_022517, RefSeq Protein:NP_001153399, RefSeq Protein:NP_001153401, RefSeq Protein:NP_996985, RefSeq RNA:NM_001159927, RefSeq RNA:NM_001159929, RefSeq RNA:NM_207102, UniProtKB:Q494Y9, UniProtKB:Q494Z0, UniProtKB:Q6X9E4 No chr3 48413709 48436190 48372219 48394830 +PA28052 26190 HGNC:13608 ENSG00000119402 F-box and WD repeat domain containing 2 FBXW2 FBW2, Fwd2, Md6 Yes No Comparative Toxicogenomics Database:26190, Ensembl:ENSG00000119402, GenAtlas:FBXW2, GeneCard:FBXW2, HGNC:HGNC:13608, HumanCyc Gene:HS04292, ModBase:Q9UKT8, NCBI Gene:26190, OMIM:609071, RefSeq DNA:NT_008470, RefSeq Protein:NP_036296, RefSeq RNA:NM_012164, UCSC Genome Browser:NM_012164, UniProtKB:Q9UKT8 No chr9 123519254 123555740 120756976 120793471 +PA35751 6468 HGNC:10847 ENSG00000107829 F-box and WD repeat domain containing 4 FBXW4 Fbw4, SHFM3, dactylin Yes No Comparative Toxicogenomics Database:6468, Ensembl:ENSG00000107829, GenAtlas:FBXW4, GeneCard:FBXW4, HGNC:HGNC:10847, HumanCyc Gene:HS03033, ModBase:P57775, NCBI Gene:6468, OMIM:600095, OMIM:608071, RefSeq DNA:NG_008091, RefSeq DNA:NT_030059, RefSeq Protein:NP_071322, RefSeq RNA:NM_022039, UCSC Genome Browser:NM_022039, UniProtKB:P57775 No chr10 103370421 103455345 101610664 101695295 +PA28053 26226 HGNC:13609 ENSG00000230701 F-box and WD repeat domain containing 4 pseudogene 1 FBXW4P1 FBW3 Yes No Ensembl:ENSG00000230701, GenAtlas:SHFM3P1, GeneCard:FBXW4P1, HGNC:HGNC:13609, NCBI Gene:26226, RefSeq DNA:NG_005085, RefSeq DNA:NT_011520, RefSeq RNA:NR_033408, UCSC Genome Browser:NM_012165 No chr22 23604954 23607192 23262767 23265005 +PA134928070 54461 HGNC:13613 ENSG00000159069 F-box and WD repeat domain containing 5 FBXW5 DKFZP434B205, Fbw5, MGC20962 Yes No Ensembl:ENSG00000159069, GeneCard:FBXW5, HGNC:HGNC:13613, HumanCyc Gene:HS14740, ModBase:Q9BSU8, NCBI Gene:54461, OMIM:609072, RefSeq DNA:NT_024000, RefSeq Protein:NP_061871, RefSeq RNA:NM_018998, UniProtKB:Q969U6 No chr9 139834885 139839298 136940433 136944774 +PA28054 55294 HGNC:16712 ENSG00000109670 F-box and WD repeat domain containing 7 FBXW7 """F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase"", ""archipelago homolog (Drosophila)""" AGO, CDC4, FBW7, FBX30, FBXW6, FLJ11071, SEL-10, SEL10 Yes No Ensembl:ENSG00000109670, GenAtlas:FBXW7, GeneCard:FBXW7, HGNC:HGNC:16712, HumanCyc Gene:HS12694, ModBase:Q969H0, NCBI Gene:55294, OMIM:606278, RefSeq DNA:NT_016354, RefSeq Protein:NP_001013433, RefSeq Protein:NP_060785, RefSeq Protein:NP_361014, RefSeq RNA:NM_001013415, RefSeq RNA:NM_018315, RefSeq RNA:NM_033632, UCSC Genome Browser:NM_018315, UniProtKB:Q969H0 No chr4 153242410 153456393 152321258 152536095 +PA28039 26259 HGNC:13597 ENSG00000174989 F-box and WD repeat domain containing 8 FBXW8 FBW6, FBW8, FBX29, FBXO29 Yes No Ensembl:ENSG00000174989, GeneCard:FBXW8, HGNC:HGNC:13597, HumanCyc Gene:HS10862, ModBase:Q8N3Y1, NCBI Gene:26259, OMIM:609073, RefSeq DNA:NT_009775, RefSeq Protein:NP_036306, RefSeq Protein:NP_699179, RefSeq RNA:NM_012174, RefSeq RNA:NM_153348, UCSC Genome Browser:NM_012174, UniProtKB:Q8N3Y1 No chr12 117348756 117468953 116910949 117032498 +PA134910095 84261 HGNC:28136 ENSG00000132004 F-box and WD repeat domain containing 9 FBXW9 Fbw9, MEC-15, MGC10870 Yes No Ensembl:ENSG00000132004, GeneCard:FBXW9, HGNC:HGNC:28136, HumanCyc Gene:HS13410, NCBI Gene:84261, OMIM:609074, RefSeq DNA:NT_011295, RefSeq Protein:NP_115677, RefSeq RNA:NM_032301, UniProtKB:Q5XUX1 No chr19 12799730 12807649 12688916 12696900 +PA142671773 83953 HGNC:24692 ENSG00000162897 Fc alpha and mu receptor FCAMR """Fc alpha/mu Receptor"", ""Fc fragment of IgA and IgM receptor"", ""Fc receptor, IgA, IgM, high affinity""" CD351, FCA/MR, FKSG87, Fcalpha/muR Yes No Ensembl:ENSG00000162897, GeneCard:FCAMR, HGNC:HGNC:24692, HumanCyc Gene:HS08757, ModBase:Q8WWV6, NCBI Gene:83953, OMIM:605484, RefSeq DNA:NT_167186, RefSeq Protein:NP_001116451, RefSeq Protein:NP_001116452, RefSeq Protein:NP_001164102, RefSeq Protein:NP_114418, RefSeq RNA:NM_001122979, RefSeq RNA:NM_001122980, RefSeq RNA:NM_001170631, RefSeq RNA:NM_032029, UniProtKB:Q8WWV6 No chr1 207131312 207143970 206957955 206970657 +PA28055 2204 HGNC:3608 ENSG00000186431, ENSG00000248798 Fc alpha receptor FCAR """Fc fragment of IgA receptor"", ""Fc fragment of IgA, receptor for""" CD89, FcalphaR, FcalphaRI Yes Yes Ensembl:ENSG00000186431, Ensembl:ENSG00000248798, GenAtlas:FCAR, GeneCard:FCAR, HGNC:HGNC:3608, HumanCyc Gene:HS09592, ModBase:P24071, NCBI Gene:2204, OMIM:147045, RefSeq DNA:NT_011109, RefSeq Protein:NP_001991, RefSeq Protein:NP_579803, RefSeq Protein:NP_579805, RefSeq Protein:NP_579806, RefSeq Protein:NP_579807, RefSeq Protein:NP_579808, RefSeq Protein:NP_579811, RefSeq Protein:NP_579812, RefSeq Protein:NP_579813, RefSeq RNA:NM_002000, RefSeq RNA:NM_133269, RefSeq RNA:NM_133271, RefSeq RNA:NM_133272, RefSeq RNA:NM_133273, RefSeq RNA:NM_133274, RefSeq RNA:NM_133277, RefSeq RNA:NM_133278, RefSeq RNA:NM_133279, UCSC Genome Browser:NM_002000, UniProtKB:P24071, UniProtKB:Q53X39, UniProtKB:Q92587, UniProtKB:Q92588, UniProtKB:Q92592, UniProtKB:Q92593, UniProtKB:Q9UEK0 No chr19 55385549 55401839 54874093 54891420 +PA28056 2205 HGNC:3609 ENSG00000179639 Fc epsilon receptor Ia FCER1A """Fc epsilon receptor Ia"", ""Fc fragment of IgE receptor Ia"", ""Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide"", ""FcepsilonRI alpha chain""" FCE1A, FCERIA, FcepsilonRIalpha Yes Yes Comparative Toxicogenomics Database:2205, Ensembl:ENSG00000179639, GenAtlas:FCER1A, GeneCard:FCER1A, HGNC:HGNC:3609, HumanCyc Gene:HS08724, HumanCyc Gene:HS11404, ModBase:P12319, NCBI Gene:2205, OMIM:147140, RefSeq DNA:NT_004487, RefSeq Protein:NP_001992, RefSeq RNA:NM_002001, UCSC Genome Browser:NM_002001, UniProtKB:P12319 No chr1 159253678 159278014 159283888 159308224 +PA28057 2207 HGNC:3611 ENSG00000158869 Fc epsilon receptor Ig FCER1G """Fc epsilon receptor Ig"", ""Fc fragment of IgE receptor Ig"", ""Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide"", ""FcepsilonRI gamma chain""" FcepsilonRIgamma Yes Yes Comparative Toxicogenomics Database:2207, Ensembl:ENSG00000158869, GenAtlas:FCER1G, GeneCard:FCER1G, HGNC:HGNC:3611, HumanCyc Gene:HS08341, ModBase:P30273, NCBI Gene:2207, OMIM:147139, RefSeq DNA:NT_004487, RefSeq Protein:NP_004097, RefSeq RNA:NM_004106, UCSC Genome Browser:NM_004106, UniProtKB:P30273 No chr1 161185087 161189038 161215297 161219248 +PA28058 2208 HGNC:3612 ENSG00000104921 Fc epsilon receptor II FCER2 """C-type lectin domain family 4 member J"", ""Fc epsilon RII"", ""Fc epsilon receptor II"", ""Fc fragment of IgE receptor II"", ""Fc fragment of IgE, low affinity II, receptor for (CD23)""" CD23, CD23A, CLEC4J, FCE2, FCErII, FcepsilonRII Yes Yes Comparative Toxicogenomics Database:2208, Ensembl:ENSG00000104921, GenAtlas:FCER2, GeneCard:FCER2, HGNC:HGNC:3612, HumanCyc Gene:HS02656, ModBase:P06734, NCBI Gene:2208, OMIM:151445, RefSeq DNA:NT_077812, RefSeq Protein:NP_001193948, RefSeq Protein:NP_001207429, RefSeq Protein:NP_001993, RefSeq RNA:NM_001207019, RefSeq RNA:NM_001220500, RefSeq RNA:NM_002002, UCSC Genome Browser:NM_002002, UniProtKB:P06734 No chr19 7753643 7767036 7688757 7702755 +PA162388159 51077 HGNC:20220 ENSG00000119616 FCF1 rRNA-processing protein FCF1 """FCF1 rRNA-processing protein"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"", ""FCF1, rRNA-processing protein""" Bka, C14orf111, CGI-35, UTP24 Yes No Ensembl:ENSG00000119616, GeneCard:FCF1, HGNC:HGNC:20220, HumanCyc Gene:HS12945, ModBase:Q9Y324, NCBI Gene:51077, RefSeq DNA:NT_026437, RefSeq Protein:NP_057046, RefSeq RNA:NM_015962, UniProtKB:Q4FZ45, UniProtKB:Q9Y324 No chr14 75179817 75205323 74713118 74738620 +PA28059 8857 HGNC:13572 ENSG00000275395 Fc gamma binding protein FCGBP Fc fragment of IgG binding protein, Human Fc gamma BP, IgG Fc binding protein FC(GAMMA)BP, FcgammaBP Yes No Comparative Toxicogenomics Database:8857, Ensembl:ENSG00000275395, GenAtlas:FCGBP, GeneCard:FCGBP, HGNC:HGNC:13572, HumanCyc Gene:HS01710, ModBase:Q9Y6R7, NCBI Gene:8857, RefSeq DNA:NT_011109, RefSeq Protein:NP_003881, RefSeq RNA:NM_003890, UCSC Genome Browser:NM_003890, UniProtKB:Q9Y6R7 No chr19 40353963 40440910 39863323 39934626 +PA28060 2209 HGNC:3613 ENSG00000150337 Fc gamma receptor Ia FCGR1A """Fc fragment of IgG receptor Ia"", ""Fc fragment of IgG, high affinity Ia, receptor (CD64)"", ""Fc gamma RI"", ""Fc gamma receptor Ia""" CD64, CD64A, FCG1, FCGR1, FcgammaRI, FcgammaRIa Yes No Ensembl:ENSG00000150337, GenAtlas:FCGR1A, GeneCard:FCGR1A, HGNC:HGNC:3613, HumanCyc Gene:HS07664, ModBase:P12314, NCBI Gene:2209, OMIM:146760, RefSeq DNA:NG_007578, RefSeq DNA:NT_004487, RefSeq Protein:NP_000557, RefSeq RNA:NM_000566, UCSC Genome Browser:NM_000566, UniProtKB:P12314 No chr1 149754232 149764074 149782677 149792518 +PA28063 2212 HGNC:3616 ENSG00000143226 Fc gamma receptor IIa FCGR2A """Fc fragment of IgG receptor IIa"", ""Fc fragment of IgG, low affinity IIa, receptor (CD32)"", ""Fc gamma receptor IIa"", ""Immunoglobulin G Fc receptor II""" CD32, CD32A, CDw32, FCG2, FCGR2, FCGR2A1, Fc-gamma-RIIa, FcgammaRIIa, IGFR2 Yes Yes Comparative Toxicogenomics Database:2212, Ensembl:ENSG00000143226, GenAtlas:FCGR2A, GeneCard:FCGR2A, HGNC:HGNC:3616, HumanCyc Gene:HS07012, ModBase:P12318, NCBI Gene:2212, OMIM:146790, RefSeq DNA:NG_012066, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129691, RefSeq Protein:NP_067674, RefSeq RNA:NM_001136219, RefSeq RNA:NM_021642, UCSC Genome Browser:NM_021642, UniProtKB:P12318 No chr1 161475205 161489360 161505415 161524048 +PA28064 2213 HGNC:3618 ENSG00000072694 Fc gamma receptor IIb FCGR2B """Fc fragment of IgG receptor IIb"", ""Fc fragment of IgG, low affinity IIb, receptor (CD32)"", ""Fc gamma receptor IIb""" CD32, CD32B, FCG2, FCGR2, FcGRIIB, FcgammaRIIb Yes Yes Comparative Toxicogenomics Database:2213, Ensembl:ENSG00000072694, GenAtlas:FCGR2B, GeneCard:FCGR2B, HGNC:HGNC:3618, HumanCyc Gene:HS01077, ModBase:P31994, NCBI Gene:2213, OMIM:152700, OMIM:604590, OMIM:611162, RefSeq DNA:NG_023318, RefSeq DNA:NT_004487, RefSeq Protein:NP_001002273, RefSeq Protein:NP_001002274, RefSeq Protein:NP_001002275, RefSeq Protein:NP_001177757, RefSeq Protein:NP_003992, RefSeq RNA:NM_001002273, RefSeq RNA:NM_001002274, RefSeq RNA:NM_001002275, RefSeq RNA:NM_001190828, RefSeq RNA:NM_004001, UCSC Genome Browser:NM_004001, UniProtKB:P31994 No chr1 161632905 161648444 161647243 161678654 +PA142671774 9103 HGNC:15626 ENSG00000244682 Fc gamma receptor IIc (gene/pseudogene) FCGR2C """Fc fragment of IgG receptor IIc (gene/pseudogene)"", ""Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)"", ""Fc gamma receptor IIc""" CD32C, Fc-gamma-RIIc, FcgammaRIIc, hFcRII-C Yes No Ensembl:ENSG00000244682, GeneCard:FCGR2C, HGNC:HGNC:15626, ModBase:P31995, NCBI Gene:9103, OMIM:188030, OMIM:612169, RefSeq DNA:NG_011982, RefSeq DNA:NT_004487, RefSeq Protein:NP_963857, RefSeq RNA:NM_201563 No chr1 161551129 161571010 161581339 161601220 +PA28065 2214 HGNC:3619 ENSG00000203747 Fc gamma receptor IIIa FCGR3A """Fc fragment of IgG receptor IIIa"", ""Fc fragment of IgG, low affinity IIIa, receptor (CD16a)"", ""Fc gamma receptor IIIa""" CD16, CD16a, FCG3, FCGR3, FcGRIIIA, FcgammaRIIIa Yes Yes Comparative Toxicogenomics Database:2214, Ensembl:ENSG00000203747, GenAtlas:FCGR3A, GeneCard:FCGR3A, HGNC:HGNC:3619, HumanCyc Gene:HS08735, ModBase:P08637, NCBI Gene:2214, OMIM:146740, OMIM:152700, RefSeq DNA:NG_009066, RefSeq DNA:NT_004487, RefSeq Protein:NP_000560, RefSeq Protein:NP_001121064, RefSeq Protein:NP_001121065, RefSeq Protein:NP_001121067, RefSeq Protein:NP_001121068, RefSeq RNA:NM_000569, RefSeq RNA:NM_001127592, RefSeq RNA:NM_001127593, RefSeq RNA:NM_001127595, RefSeq RNA:NM_001127596, UCSC Genome Browser:NM_000569, UniProtKB:P08637 No chr1 161511549 161520413 161541759 161550623 +PA28066 2215 HGNC:3620 ENSG00000162747 Fc gamma receptor IIIb FCGR3B """Fc fragment of IgG receptor IIIb"", ""Fc fragment of IgG, low affinity IIIb, receptor (CD16b)"", ""Fc gamma receptor IIIb""" CD16, CD16b, FCG3, FCGR3, FcRIIIb, FcgammaRIIIb Yes No Comparative Toxicogenomics Database:2215, Ensembl:ENSG00000162747, GenAtlas:FCGR3B, GeneCard:FCGR3B, HGNC:HGNC:3620, ModBase:O75015, NCBI Gene:2215, OMIM:610665, RefSeq DNA:NT_004487, RefSeq Protein:NP_000561, RefSeq RNA:NM_000570, UCSC Genome Browser:NM_000570, UniProtKB:O75015 No chr1 161592986 161601753 161623196 161631963 +PA28067 2217 HGNC:3621 ENSG00000104870 Fc gamma receptor and transporter FCGRT """FCRN alpha-chain"", ""Fc fragment of IgG receptor and transporter"", ""Fc fragment of IgG, receptor, transporter, alpha"", ""heavy chain of the major histocompatibility complex class I-like Fc receptor"", ""neonatal Fc receptor"", ""transmembrane alpha chain of the neonatal receptor""" FCRN, FcgammaRn, alpha-chain Yes No Comparative Toxicogenomics Database:2217, Ensembl:ENSG00000104870, GenAtlas:FCGRT, GeneCard:FCGRT, HGNC:HGNC:3621, HumanCyc Gene:HS02638, ModBase:P55899, NCBI Gene:2217, OMIM:601437, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129491, RefSeq Protein:NP_004098, RefSeq RNA:NM_001136019, RefSeq RNA:NM_004107, UCSC Genome Browser:NM_004107, UniProtKB:P55899 No chr19 50015536 50029685 49512279 49526428 +PA134870625 23149 HGNC:29002 ENSG00000130475 FCH and mu domain containing endocytic adaptor 1 FCHO1 FCH domain only 1 KIAA0290 Yes No Ensembl:ENSG00000130475, GeneCard:FCHO1, HGNC:HGNC:29002, ModBase:O14526, NCBI Gene:23149, OMIM:613437, RefSeq DNA:NT_011295, RefSeq Protein:NP_001154829, RefSeq Protein:NP_001154830, RefSeq Protein:NP_001154831, RefSeq Protein:NP_055937, RefSeq RNA:NM_001161357, RefSeq RNA:NM_001161358, RefSeq RNA:NM_001161359, RefSeq RNA:NM_015122, UniProtKB:B4E120, UniProtKB:B7ZAZ3, UniProtKB:O14526 No chr19 17858527 17899377 17747718 17788568 +PA134911830 115548 HGNC:25180 ENSG00000157107 FCH and mu domain containing endocytic adaptor 2 FCHO2 FCH domain only 2 Yes No Comparative Toxicogenomics Database:115548, Ensembl:ENSG00000157107, GeneCard:FCHO2, HGNC:HGNC:25180, NCBI Gene:115548, OMIM:613438, RefSeq DNA:NT_006713, RefSeq Protein:NP_001139504, RefSeq Protein:NP_620137, RefSeq RNA:NM_001146032, RefSeq RNA:NM_138782, UniProtKB:B4DHK0, UniProtKB:Q0JRZ9 No chr5 72251808 72386349 72955981 73090522 +PA134871859 89848 HGNC:25463 ENSG00000197948 FCH and double SH3 domains 1 FCHSD1 FLJ00007 Yes No Ensembl:ENSG00000197948, GeneCard:FCHSD1, HGNC:HGNC:25463, ModBase:Q86WN1, NCBI Gene:89848, RefSeq DNA:NT_029289, RefSeq Protein:NP_258260, RefSeq RNA:NM_033449, UniProtKB:Q86WN1 No chr5 141018869 141030986 141639302 141651453 +PA128394562 9873 HGNC:29114 ENSG00000137478 FCH and double SH3 domains 2 FCHSD2 KIAA0769, SH3MD3 Yes No Comparative Toxicogenomics Database:9873, Ensembl:ENSG00000137478, GeneCard:FCHSD2, HGNC:HGNC:29114, HumanCyc Gene:HS06345, NCBI Gene:9873, RefSeq DNA:NT_167190, RefSeq Protein:NP_055639, RefSeq RNA:NM_014824, UCSC Genome Browser:NM_014824, UniProtKB:O94868 No chr11 72547788 72853727 72836743 73142682 +PA142671899 9214 HGNC:14315 ENSG00000162894 Fc mu receptor FCMR Fas apoptotic inhibitory molecule 3, Fc fragment of IgM receptor, Fc mu R, IgM Fc receptor FAIM3, FcmuR, TOSO Yes No Ensembl:ENSG00000162894, GeneCard:FAIM3, HGNC:HGNC:14315, HumanCyc Gene:HS08755, ModBase:O60667, NCBI Gene:9214, OMIM:606015, RefSeq DNA:NT_167186, RefSeq Protein:NP_001135944, RefSeq Protein:NP_001135945, RefSeq Protein:NP_001180267, RefSeq Protein:NP_005440, RefSeq RNA:NM_001142472, RefSeq RNA:NM_001142473, RefSeq RNA:NM_001193338, RefSeq RNA:NM_005449, UniProtKB:B7Z6Z0, UniProtKB:O60667 No chr1 207076630 207095378 206903282 206922033 +PA28069 2219 HGNC:3623 ENSG00000085265 ficolin 1 FCN1 ficolin (collagen/fibrinogen domain containing) 1 FCNM Yes No Ensembl:ENSG00000085265, GenAtlas:FCN1, GeneCard:FCN1, HGNC:HGNC:3623, HumanCyc Gene:HS01488, ModBase:O00602, NCBI Gene:2219, OMIM:601252, RefSeq DNA:NT_019501, RefSeq Protein:NP_001994, RefSeq RNA:NM_002003, UCSC Genome Browser:NM_002003, UniProtKB:O00602, UniProtKB:Q5VYV5 No chr9 137797711 137809849 134909585 134917960 +PA28070 2220 HGNC:3624 ENSG00000160339 ficolin 2 FCN2 L-ficolin, collagen/fibrinogen domain-containing protein 2, ficolin (collagen/fibrinogen domain containing lectin) 2, ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin), ficolin B, hucolin, serum lectin p35 EBP-37, FCNL, P35, ficolin-2 Yes Yes Ensembl:ENSG00000160339, GenAtlas:FCN2, GeneCard:FCN2, HGNC:HGNC:3624, HumanCyc Gene:HS08492, ModBase:Q15485, NCBI Gene:2220, OMIM:601624, RefSeq DNA:NG_011649, RefSeq DNA:NT_019501, RefSeq Protein:NP_004099, RefSeq Protein:NP_056652, RefSeq RNA:NM_004108, RefSeq RNA:NM_015837, UCSC Genome Browser:NM_004108, UniProtKB:Q15485 No chr9 137772658 137779366 134864146 134890506 +PA28071 8547 HGNC:3625 ENSG00000142748 ficolin 3 FCN3 Hakata antigen, ficolin (collagen/fibrinogen domain containing) 3, ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) FCNH, HAKA1 Yes No Ensembl:ENSG00000142748, GenAtlas:FCN3, GeneCard:FCN3, HGNC:HGNC:3625, HumanCyc Gene:HS06958, ModBase:O75636, NCBI Gene:8547, OMIM:604973, RefSeq DNA:NG_016279, RefSeq DNA:NT_004610, RefSeq Protein:NP_003656, RefSeq Protein:NP_775628, RefSeq RNA:NM_003665, RefSeq RNA:NM_173452, UCSC Genome Browser:NM_003665, UniProtKB:O75636, UniProtKB:Q6UXM4 No chr1 27695601 27701315 27369110 27374824 +PA142671766 115350 HGNC:18509 ENSG00000163534 Fc receptor like 1 FCRL1 Fc receptor-like 1 CD307a, FCRH1, IFGP1, IRTA5 Yes No Comparative Toxicogenomics Database:115350, Ensembl:ENSG00000163534, GeneCard:FCRL1, HGNC:HGNC:18509, HumanCyc Gene:HS08874, ModBase:Q96LA6, NCBI Gene:115350, OMIM:606508, RefSeq DNA:NT_004487, RefSeq Protein:NP_001152869, RefSeq Protein:NP_001152870, RefSeq Protein:NP_443170, RefSeq RNA:NM_001159397, RefSeq RNA:NM_001159398, RefSeq RNA:NM_052938, UniProtKB:Q96LA6 No chr1 157764193 157789940 157792249 157820150 +PA37913 79368 HGNC:14875 ENSG00000132704 Fc receptor like 2 FCRL2 Fc receptor-like 2 CD307b, FCRH2, IRTA4, SPAP1 Yes No Ensembl:ENSG00000132704, GenAtlas:FCRL2, GeneCard:FCRL2, HGNC:HGNC:14875, HumanCyc Gene:HS05683, ModBase:Q96LA5, NCBI Gene:79368, OMIM:606509, RefSeq DNA:NT_004487, RefSeq Protein:NP_110391, RefSeq RNA:NM_030764, UCSC Genome Browser:NM_030764, UniProtKB:B4E0W2, UniProtKB:Q96LA5 No chr1 157715523 157747119 157745733 157777472 +PA142671767 115352 HGNC:18506 ENSG00000160856 Fc receptor like 3 FCRL3 Fc receptor-like 3 CD307c, FCRH3, IFGP3, IRTA3, SPAP2, SPAP2a, SPAP2b, SPAP2c, SPAP2d, SPAP2e Yes No Comparative Toxicogenomics Database:115352, Ensembl:ENSG00000160856, GeneCard:FCRL3, HGNC:HGNC:18506, HumanCyc Gene:HS08541, ModBase:Q96P30, NCBI Gene:115352, OMIM:606510, RefSeq DNA:NG_023241, RefSeq DNA:NT_004487, RefSeq Protein:NP_443171, RefSeq RNA:NM_052939, UniProtKB:Q96P31 No chr1 157646271 157670775 157676481 157700985 +PA142671768 83417 HGNC:18507 ENSG00000163518 Fc receptor like 4 FCRL4 Fc receptor-like 4 CD307d, FCRH4, IGFP2, IRTA1 Yes No Ensembl:ENSG00000163518, GeneCard:FCRL4, HGNC:HGNC:18507, HumanCyc Gene:HS15074, ModBase:Q96PJ5, NCBI Gene:83417, OMIM:605876, RefSeq DNA:NT_004487, RefSeq Protein:NP_112572, RefSeq RNA:NM_031282, UniProtKB:Q96PJ5 No chr1 157543539 157567870 157573749 157598080 +PA142671769 83416 HGNC:18508 ENSG00000143297 Fc receptor like 5 FCRL5 Fc receptor-like 5 BXMAS1, CD307e, FCRH5, IRTA2 Yes No Ensembl:ENSG00000143297, GeneCard:FCRL5, HGNC:HGNC:18508, HumanCyc Gene:HS07020, ModBase:Q96RD9, NCBI Gene:83416, OMIM:605877, RefSeq DNA:NT_004487, RefSeq Protein:NP_001182317, RefSeq Protein:NP_112571, RefSeq RNA:NM_001195388, RefSeq RNA:NM_031281, UniProtKB:Q96RD9 No chr1 157483167 157522310 157513377 157552520 +PA142671770 343413 HGNC:31910 ENSG00000181036 Fc receptor like 6 FCRL6 Fc receptor-like 6 FLJ16056, FcRH6, IFGP6 Yes No Ensembl:ENSG00000181036, GeneCard:FCRL6, HGNC:HGNC:31910, ModBase:Q6DN72, NCBI Gene:343413, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004310, RefSeq RNA:NM_001004310, UniProtKB:Q6DN72 No chr1 159770282 159786047 159800506 159816257 +PA162388180 84824 HGNC:18504 ENSG00000132185 Fc receptor like A FCRLA Fc receptor-like A FCRL, FCRLM1, FCRLX, FCRLa, FCRLb, FCRLc1, FCRLc2, FCRLd, FCRLe, FREB, MGC4595 Yes No Ensembl:ENSG00000132185, GeneCard:FCRLA, HGNC:HGNC:18504, HumanCyc Gene:HS05603, ModBase:Q96PC6, ModBase:Q96PJ0, NCBI Gene:84824, OMIM:606891, RefSeq DNA:NT_004487, RefSeq Protein:NP_001171795, RefSeq Protein:NP_001171796, RefSeq Protein:NP_001171799, RefSeq Protein:NP_001171800, RefSeq Protein:NP_001171801, RefSeq Protein:NP_001171802, RefSeq Protein:NP_116127, RefSeq RNA:NM_001184866, RefSeq RNA:NM_001184867, RefSeq RNA:NM_001184870, RefSeq RNA:NM_001184871, RefSeq RNA:NM_001184872, RefSeq RNA:NM_001184873, RefSeq RNA:NM_032738, UniProtKB:A6NL20, UniProtKB:Q5VXB1, UniProtKB:Q6MZF2, UniProtKB:Q7L513 No chr1 161676762 161684142 161706972 161714352 +PA162388195 127943 HGNC:26431 ENSG00000162746 Fc receptor like B FCRLB Fc receptor-like B FCRL2, FCRLM2, FCRLY, FLJ31052, FREB-2 Yes No Ensembl:ENSG00000162746, GeneCard:FCRLB, HGNC:HGNC:26431, HumanCyc Gene:HS14962, ModBase:Q8IXZ7, NCBI Gene:127943, OMIM:609251, RefSeq DNA:NT_004487, RefSeq Protein:NP_001002901, RefSeq RNA:NM_001002901, UniProtKB:Q6BAA4 No chr1 161691598 161697933 161721544 161728143 +PA134863646 197258 HGNC:29500 ENSG00000157353 fucose kinase FCSK L-fucose kinase, fucokinase FLJ39408, FUK Yes No Comparative Toxicogenomics Database:197258, Ensembl:ENSG00000157353, GeneCard:FUK, HGNC:HGNC:29500, HumanCyc Gene:HS08207, ModBase:Q8N0W3, NCBI Gene:197258, OMIM:608675, RefSeq DNA:NT_010498, RefSeq Protein:NP_659496, RefSeq RNA:NM_145059, UniProtKB:Q8N0W3 No chr16 70488498 70514177 70454421 70480274 +PA134922601 260436 HGNC:19215 ENSG00000181617 follicular dendritic cell secreted protein FDCSP C4orf7, FDC-SP Yes No Ensembl:ENSG00000181617, GeneCard:C4orf7, HGNC:HGNC:19215, HumanCyc Gene:HS17708, ModBase:Q8NFU4, NCBI Gene:260436, OMIM:607241, RefSeq DNA:NT_022778, RefSeq Protein:NP_694542, RefSeq RNA:NM_152997, UniProtKB:Q540F3, UniProtKB:Q8NFU4 No chr4 71091788 71100969 70226071 70235252 +PA28073 2222 HGNC:3629 ENSG00000079459 farnesyl-diphosphate farnesyltransferase 1 FDFT1 squalene synthase SQS Yes No Comparative Toxicogenomics Database:2222, Ensembl:ENSG00000079459, GenAtlas:FDFT1, GeneCard:FDFT1, HGNC:HGNC:3629, HumanCyc Gene:HS01329, ModBase:P37268, NCBI Gene:2222, OMIM:184420, RefSeq DNA:NT_077531, RefSeq Protein:NP_004453, RefSeq RNA:NM_004462, UCSC Genome Browser:NM_004462, UniProtKB:P37268, UniProtKB:Q6IAX1 No chr8 11653467 11696818 11795573 11839309 +PA28075 2224 HGNC:3631 ENSG00000160752 farnesyl diphosphate synthase FDPS farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase Yes Yes Comparative Toxicogenomics Database:2224, Ensembl:ENSG00000160752, GenAtlas:FDPS, GeneCard:FDPS, HGNC:HGNC:3631, HumanCyc Gene:HS08528, ModBase:P14324, NCBI Gene:2224, OMIM:134629, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129293, RefSeq Protein:NP_001129294, RefSeq Protein:NP_001229753, RefSeq Protein:NP_001229754, RefSeq Protein:NP_001995, RefSeq RNA:NM_001135821, RefSeq RNA:NM_001135822, RefSeq RNA:NM_001242824, RefSeq RNA:NM_001242825, RefSeq RNA:NM_002004, UCSC Genome Browser:NM_002004, UniProtKB:P14324 No chr1 155278539 155290457 155308748 155320666 +PA28076 343332 HGNC:3632 ENSG00000225462 farnesyl diphosphate synthase pseudogene 1 FDPSP1 Yes No Ensembl:ENSG00000225462, GenAtlas:FDPSL1, GeneCard:FDPSP1, HGNC:HGNC:3632, NCBI Gene:343332, RefSeq DNA:NG_005667, RefSeq DNA:NT_004487 No chr1 187532159 187533307 187563027 187564175 +PA28077 392063 HGNC:3633 ENSG00000233980 farnesyl diphosphate synthase pseudogene 2 FDPSP2 TCAG_1641456 Yes No Ensembl:ENSG00000233980, GenAtlas:FDPSL2, GeneCard:FDPSP2, HGNC:HGNC:3633, NCBI Gene:392063, RefSeq DNA:NG_005796, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595 No chr7 +PA28078 2227 HGNC:3634 ENSG00000258872 farnesyl diphosphate synthase pseudogene 3 FDPSP3 Yes No Ensembl:ENSG00000258872, GenAtlas:FDPSL3, GeneCard:FDPSP3, HGNC:HGNC:3634, NCBI Gene:2227, RefSeq DNA:NG_005795, RefSeq DNA:NT_026437 No chr14 55351525 55352962 54884807 54886244 +PA28079 2228 HGNC:3635 ENSG00000254793 farnesyl diphosphate synthase pseudogene 4 FDPSP4 Yes No Ensembl:ENSG00000254793, GenAtlas:FDPSL4, GeneCard:FDPSP4, HGNC:HGNC:3635, NCBI Gene:2228, RefSeq DNA:NG_007445, RefSeq DNA:NT_010194 No chr15 43231451 43232602 42939253 42940404 +PA28080 2229 HGNC:3636 ENSG00000215035 farnesyl diphosphate synthase pseudogene 5 FDPSP5 farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) (FDPS) pseudogene Yes No Ensembl:ENSG00000215035, GenAtlas:FDPSL5, GeneCard:FDPSP5, HGNC:HGNC:3636, NCBI Gene:2229, RefSeq DNA:NG_007446, RefSeq DNA:NT_079573 No chrX 44335217 44336726 44475971 44477480 +PA28081 54051 HGNC:3637 ENSG00000233676 farnesyl diphosphate synthase pseudogene 6 FDPSP6 Yes No Ensembl:ENSG00000233676, GenAtlas:FDPSP, GeneCard:FDPSP6, HGNC:HGNC:3637, NCBI Gene:54051, RefSeq DNA:NG_000923, RefSeq DNA:NT_011512 No chr21 21760493 21761253 20388181 20388941 +PA28082 2230 HGNC:3638 ENSG00000137714 ferredoxin 1 FDX1 adrenodoxin ADX, FDX Yes No Comparative Toxicogenomics Database:2230, Ensembl:ENSG00000137714, GenAtlas:FDX1, GeneCard:FDX1, HGNC:HGNC:3638, HumanCyc Gene:HS06381, ModBase:P10109, NCBI Gene:2230, OMIM:103260, RefSeq DNA:NT_033899, RefSeq Protein:NP_004100, RefSeq RNA:NM_004109, UCSC Genome Browser:NM_004109, UniProtKB:P10109 No chr11 110300661 110335608 110429937 110464884 +PA28084 2231 HGNC:3640 ENSG00000181741 ferredoxin 1 pseudogene 1 FDX1P1 Yes No Ensembl:ENSG00000181741, GenAtlas:FDXP1, GeneCard:FDX1P1, HGNC:HGNC:3640, NCBI Gene:2231, RefSeq DNA:NG_001117, RefSeq DNA:NT_011362, RefSeq DNA:NT_028392 No chr20 33061116 33064295 34473311 34476490 +PA28085 2216 HGNC:3641 ENSG00000227054 ferredoxin 1 pseudogene 2 FDX1P2 Yes No Ensembl:ENSG00000227054, GenAtlas:FDXP2, GeneCard:FDX1P2, HGNC:HGNC:3641, NCBI Gene:2216, RefSeq DNA:NG_001116, RefSeq DNA:NT_011512 No chr21 27064483 27065457 25692171 25693145 +PA162388212 112812 HGNC:30546 ENSG00000267673 ferredoxin 2 FDX2 ferredoxin 1-like FDX1L, MGC19604 Yes No Ensembl:ENSG00000267673, GeneCard:FDX1L, HGNC:HGNC:30546, HumanCyc Gene:HS09644, ModBase:Q6P4F2, NCBI Gene:112812, RefSeq DNA:NT_011295, RefSeq Protein:NP_001384335, RefSeq RNA:NM_001397406, UniProtKB:Q6P4F2 No chr19 10420887 10427241 10310211 10316015 +PA164720055 91893 HGNC:25110 ENSG00000255561 ferredoxin-fold anticodon binding domain containing 1 FDXACB1 hypothetical protein BC006136 LOC91893, hCG_2033039 Yes No Ensembl:ENSG00000255561, GeneCard:FDXACB1, HGNC:HGNC:25110, NCBI Gene:91893, RefSeq DNA:NT_033899, RefSeq Protein:NP_612387, RefSeq RNA:NM_138378, RefSeq RNA:NR_038364, UniProtKB:Q9BRP7 No chr11 111744780 111750181 111874056 111879457 +PA28086 2232 HGNC:3642 ENSG00000161513 ferredoxin reductase FDXR Ferredoxin--NADP(+) reductase, adrenodoxin reductase, adrenodoxin-NADP(+) reductase ADR, ADXR, AR Yes No Comparative Toxicogenomics Database:2232, Ensembl:ENSG00000161513, GenAtlas:FDXR, GeneCard:FDXR, HGNC:HGNC:3642, HumanCyc Gene:HS08587, ModBase:P22570, NCBI Gene:2232, OMIM:103270, RefSeq DNA:NT_010783, RefSeq Protein:NP_004101, RefSeq Protein:NP_077728, RefSeq RNA:NM_004110, RefSeq RNA:NM_024417, UCSC Genome Browser:NM_004110, UniProtKB:P22570, UniProtKB:Q6GSK2 No chr17 72858619 72869156 74862497 74873031 +PA28087 2235 HGNC:3647 ENSG00000066926 ferrochelatase FECH protoporphyria Yes Yes Comparative Toxicogenomics Database:2235, Ensembl:ENSG00000066926, GenAtlas:FECH, GeneCard:FECH, HGNC:HGNC:3647, HumanCyc Gene:HS00891, ModBase:P22830, NCBI Gene:2235, OMIM:177000, OMIM:612386, RefSeq DNA:NG_008175, RefSeq DNA:NT_025028, RefSeq Protein:NP_000131, RefSeq Protein:NP_001012533, RefSeq RNA:NM_000140, RefSeq RNA:NM_001012515, UCSC Genome Browser:NM_000140, UniProtKB:P22830, UniProtKB:Q7KZA3, UniProtKB:Q8NAN0 No chr18 55212073 55253969 57544841 57586737 +PA28088 2236 HGNC:3648 ENSG00000235534 ferrochelatase pseudogene 1 FECHP1 Yes No Ensembl:ENSG00000235534, GenAtlas:FECHP, GeneCard:FECHP1, HGNC:HGNC:3648, NCBI Gene:2236, RefSeq DNA:NG_001118, RefSeq DNA:NT_022517 No chr3 34914216 34916710 34872666 34875228 +PA134940973 55527 HGNC:16934 ENSG00000141965 fem-1 homolog A FEM1A fem-1 homolog a (C. elegans) Yes No Comparative Toxicogenomics Database:55527, Ensembl:ENSG00000141965, GeneCard:FEM1A, HGNC:HGNC:16934, HumanCyc Gene:HS13916, ModBase:Q9BSK4, NCBI Gene:55527, RefSeq DNA:NT_011255, RefSeq Protein:NP_061178, RefSeq RNA:NM_018708, UniProtKB:Q9BSK4 No chr19 4791728 4795571 4791716 4795559 +PA134892244 441957 HGNC:17219 ENSG00000229231 fem-1 homolog a (C. elegans) pseudogene 1 FEM1AP1 Yes No Ensembl:ENSG00000229231, GeneCard:FEM1DP, HGNC:HGNC:17219, NCBI Gene:441957 No chr21 15134659 15136650 13762215 13764528 +PA28089 10116 HGNC:3649 ENSG00000169018 fem-1 homolog B FEM1B fem-1 homolog b (C. elegans) Yes No Comparative Toxicogenomics Database:10116, Ensembl:ENSG00000169018, GenAtlas:FEM1B, GeneCard:FEM1B, HGNC:HGNC:3649, HumanCyc Gene:HS09865, ModBase:Q9UK73, NCBI Gene:10116, RefSeq DNA:NT_010194, RefSeq Protein:NP_056137, RefSeq RNA:NM_015322, UCSC Genome Browser:NM_015322, UniProtKB:Q9UK73 No chr15 68570141 68583640 68277803 68295865 +PA134891999 56929 HGNC:16933 ENSG00000145780 fem-1 homolog C FEM1C fem-1 homolog c (C. elegans) EUROIMAGE686608, EUROIMAGE783647, FEM1A, KIAA1785 Yes No Comparative Toxicogenomics Database:56929, Ensembl:ENSG00000145780, GeneCard:FEM1C, HGNC:HGNC:16933, HumanCyc Gene:HS14108, ModBase:Q96JP0, NCBI Gene:56929, OMIM:608767, RefSeq DNA:NT_034772, RefSeq Protein:NP_064562, RefSeq RNA:NM_020177, UniProtKB:Q96JP0 No chr5 114856605 114880591 115520908 115544919 +PA28090 2237 HGNC:3650 ENSG00000168496 flap structure-specific endonuclease 1 FEN1 DNase IV, maturation factor-1 FEN-1, MF1, RAD2 Yes Yes Comparative Toxicogenomics Database:2237, Ensembl:ENSG00000168496, GenAtlas:FEN1, GeneCard:FEN1, HGNC:HGNC:3650, HumanCyc Gene:HS09774, ModBase:P39748, NCBI Gene:2237, OMIM:600393, RefSeq DNA:NT_167190, RefSeq Protein:NP_004102, RefSeq RNA:NM_004111, UCSC Genome Browser:NM_004111, UniProtKB:P39748, UniProtKB:Q6FHX6 No chr11 61560109 61564716 61792637 61797244 +PA28091 645931 HGNC:3651 ENSG00000215873 flap structure-specific endonuclease 1 pseudogene 1 FEN1P1 Yes No Ensembl:ENSG00000215873, GenAtlas:FENL1, GeneCard:FEN1P1, HGNC:HGNC:3651, NCBI Gene:645931, RefSeq DNA:NG_005887, RefSeq DNA:NT_032977 No chr1 91793795 91795813 91328238 91330256 +PA28095 2241 HGNC:3655 ENSG00000151422 FER tyrosine kinase FER """fer (fps/fes related) tyrosine kinase"", ""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74""" PPP1R74, TYK3 Yes No Ensembl:ENSG00000151422, GenAtlas:FER, GeneCard:FER, HGNC:HGNC:3655, HumanCyc Gene:HS07735, ModBase:P16591, NCBI Gene:2241, OMIM:176942, RefSeq DNA:NG_011445, RefSeq DNA:NT_034772, RefSeq Protein:NP_005237, RefSeq RNA:NM_005246, UCSC Genome Browser:NM_005246, UniProtKB:P16591, UniProtKB:Q05DA5 No chr5 108083523 108523373 108746085 109196841 +PA28097 80307 HGNC:15801 ENSG00000088340 fer-1-like 4 (C. elegans) pseudogene FER1L4 bA563A22B.1, dJ309K20.1 Yes No Comparative Toxicogenomics Database:80307, Ensembl:ENSG00000088340, GenAtlas:FER1L4, GeneCard:FER1L4, HGNC:HGNC:15801, HumanCyc Gene:HS12304, NCBI Gene:80307, RefSeq DNA:NT_011362, RefSeq RNA:NR_024377, UCSC Genome Browser:NM_024777, UCSC Genome Browser:NM_025206 No chr20 34146507 34195818 35558737 35607562 +PA142671764 90342 HGNC:19044 ENSG00000249715 fer-1 like family member 5 FER1L5 fer-1-like 5 (C. elegans), fer-1-like family member 5 DKFZp434I0121 Yes No Ensembl:ENSG00000249715, GeneCard:FER1L5, HGNC:HGNC:19044, NCBI Gene:90342, RefSeq DNA:NT_022171, RefSeq Protein:NP_001070868, RefSeq Protein:NP_001106853, RefSeq RNA:NM_001077400, RefSeq RNA:NM_001113382, UniProtKB:A0AVI2 No chr2 97308574 97370624 96642719 96704887 +PA162388227 654463 HGNC:28065 ENSG00000214814 fer-1 like family member 6 FER1L6 fer-1-like 6 (C. elegans), fer-1-like family member 6 C8ORFK23 Yes No Ensembl:ENSG00000214814, GeneCard:FER1L6, HGNC:HGNC:28065, ModBase:Q2WGJ9, NCBI Gene:654463, RefSeq DNA:NT_008046, RefSeq Protein:NP_001034201, RefSeq RNA:NM_001039112, UniProtKB:Q2WGJ9 No chr8 124864227 125132412 123851987 124120061 +PA142672317 439941 HGNC:26652 ENSG00000181171 FER1L6 antisense RNA 1 FER1L6-AS1 FLJ35721 Yes No Ensembl:ENSG00000181171, GeneCard:C8orf54, HGNC:HGNC:26652, NCBI Gene:439941, RefSeq DNA:NT_008046, RefSeq Protein:NP_001033795, RefSeq RNA:NM_001038706, RefSeq RNA:NR_040044 No chr8 124996378 125053023 123984138 124040782 +PA143485342 157376 HGNC:26534 ENSG00000253868 FER1L6 antisense RNA 2 FER1L6-AS2 FLJ32770 Yes No Ensembl:ENSG00000253868, GeneCard:FER1L6-AS2, HGNC:HGNC:26534, NCBI Gene:157376, RefSeq DNA:NT_008046, RefSeq Protein:NP_872331, RefSeq RNA:NM_182525 No chr8 125058312 125183763 124046071 124171522 +PA134973730 222894 HGNC:16660 ENSG00000146618 Fer3 like bHLH transcription factor FERD3L Fer3-like (Drosophila), Fer3-like bHLH transcription factor N-TWIST, NATO3, bHLHa31 Yes No Ensembl:ENSG00000146618, GeneCard:FERD3L, HGNC:HGNC:16660, HumanCyc Gene:HS14166, ModBase:Q96RJ6, NCBI Gene:222894, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_690862, RefSeq RNA:NM_152898, UniProtKB:Q96RJ6 No chr7 19180618 19185044 19144782 19145421 +PA162388314 55612 HGNC:15889 ENSG00000101311 FERM domain containing kindlin 1 FERMT1 fermitin family member 1, kinderlin, kindlin-1 C20orf42, FLJ20116, KIND1, UNC112A, URP1 Yes No Ensembl:ENSG00000101311, GeneCard:FERMT1, HGNC:HGNC:15889, HumanCyc Gene:HS02239, ModBase:Q9BQL6, NCBI Gene:55612, OMIM:173650, OMIM:607900, RefSeq DNA:NG_016213, RefSeq DNA:NT_011387, RefSeq Protein:NP_060141, RefSeq RNA:NM_017671, UniProtKB:Q49AC8, UniProtKB:Q54A15, UniProtKB:Q9BQL6 No chr20 6055492 6104191 6074845 6123544 +PA162388349 10979 HGNC:15767 ENSG00000073712 FERM domain containing kindlin 2 FERMT2 fermitin family member 2, kindlin-2, mitogen inducible gene-2 KIND2, PLEKHC1, UNC112B, mig-2 Yes No Ensembl:ENSG00000073712, GeneCard:FERMT2, HGNC:HGNC:15767, ModBase:Q96AC1, NCBI Gene:10979, OMIM:607746, RefSeq DNA:NT_026437, RefSeq Protein:NP_001128471, RefSeq Protein:NP_001128472, RefSeq Protein:NP_006823, RefSeq RNA:NM_001134999, RefSeq RNA:NM_001135000, RefSeq RNA:NM_006832, UniProtKB:B5TJY2, UniProtKB:Q96AC1 No chr14 53323989 53417856 52857271 52951192 +PA162388384 83706 HGNC:23151 ENSG00000149781 FERM domain containing kindlin 3 FERMT3 UNC-112 related protein 2, fermitin family member 3, kindlin-3 KIND3, MGC10966, MIG-2, MIG2B, UNC112C, URP2 Yes No Ensembl:ENSG00000149781, GeneCard:FERMT3, HGNC:HGNC:23151, ModBase:Q86UX7, NCBI Gene:83706, OMIM:607901, OMIM:612840, RefSeq DNA:NG_016360, RefSeq DNA:NT_167190, RefSeq Protein:NP_113659, RefSeq Protein:NP_848537, RefSeq RNA:NM_031471, RefSeq RNA:NM_178443, UniProtKB:Q86UX7 No chr11 63974152 63991363 64206665 64223891 +PA142671765 553112 HGNC:26443 ENSG00000232149 fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene 1 FERP1 FERps Yes No Ensembl:ENSG00000232149, HGNC:HGNC:26443, NCBI Gene:553112, RefSeq DNA:NG_005390, RefSeq DNA:NT_011786 No chrX 122736990 122737782 123603140 123604114 +PA25505 57102 HGNC:1184 ENSG00000047621 FERRY endosomal RAB5 effector complex subunit 3 FERRY3 chromosome 12 open reading frame 4 C12orf4, Fy-3 Yes No Ensembl:ENSG00000047621, GenAtlas:C12orf4, GeneCard:C12orf4, HGNC:HGNC:1184, HumanCyc Gene:HS12107, ModBase:Q9NQ89, NCBI Gene:57102, RefSeq DNA:NT_009759, RefSeq Protein:NP_065107, RefSeq RNA:NM_020374, UCSC Genome Browser:NM_020374, UniProtKB:Q9NQ89 No chr12 4596899 4647674 4487730 4538508 +PA28098 2242 HGNC:3657 ENSG00000182511 FES proto-oncogene, tyrosine kinase FES """Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"", ""feline sarcoma oncogene""" FPS Yes No Comparative Toxicogenomics Database:2242, Ensembl:ENSG00000182511, GenAtlas:FES, GeneCard:FES, HGNC:HGNC:3657, HumanCyc Gene:HS00014, ModBase:P07332, NCBI Gene:2242, OMIM:190030, RefSeq DNA:NT_010274, RefSeq Protein:NP_001137255, RefSeq Protein:NP_001137256, RefSeq Protein:NP_001137257, RefSeq Protein:NP_001996, RefSeq RNA:NM_001143783, RefSeq RNA:NM_001143784, RefSeq RNA:NM_001143785, RefSeq RNA:NM_002005, UCSC Genome Browser:NM_002005, UniProtKB:B4DUD0, UniProtKB:P07332, UniProtKB:Q2VXS7, UniProtKB:Q2VXS8, UniProtKB:Q2VXT0 No chr15 91427665 91439006 90884421 90895776 +PA28099 26998 HGNC:3658 ENSG00000090512 fetuin B FETUB Yes No Comparative Toxicogenomics Database:26998, Ensembl:ENSG00000090512, GenAtlas:FETUB, GeneCard:FETUB, HGNC:HGNC:3658, HumanCyc Gene:HS01691, ModBase:Q9UGM5, NCBI Gene:26998, OMIM:605954, RefSeq DNA:NT_005612, RefSeq Protein:NP_055190, RefSeq RNA:NM_014375, UCSC Genome Browser:NM_014375, UniProtKB:Q9UGM5 No chr3 186353758 186370797 186635828 186653008 +PA134875093 54738 HGNC:18562 ENSG00000163497 FEV transcription factor, ETS family member FEV """FEV (ETS oncogene family)"", ""FEV, ETS transcription factor""" Pet-1 Yes No Ensembl:ENSG00000163497, GeneCard:FEV, HGNC:HGNC:18562, HumanCyc Gene:HS08860, ModBase:Q99581, NCBI Gene:54738, OMIM:607150, RefSeq DNA:NG_023323, RefSeq DNA:NT_005403, RefSeq Protein:NP_059991, RefSeq RNA:NM_017521, UniProtKB:Q99581 No chr2 219845809 219850379 218981087 218985657 +PA28100 9638 HGNC:3659 ENSG00000149557 fasciculation and elongation protein zeta 1 FEZ1 fasciculation and elongation protein zeta 1 (zygin I), zygin I UNC-76 Yes No Comparative Toxicogenomics Database:9638, Ensembl:ENSG00000149557, GenAtlas:FEZ1, GeneCard:FEZ1, HGNC:HGNC:3659, HumanCyc Gene:HS07627, ModBase:Q99689, NCBI Gene:9638, OMIM:604825, RefSeq DNA:NT_033899, RefSeq Protein:NP_005094, RefSeq Protein:NP_072043, RefSeq RNA:NM_005103, RefSeq RNA:NM_022549, UCSC Genome Browser:NM_005103, UniProtKB:Q99689 No chr11 125315641 125366206 125445745 125496310 +PA28101 9637 HGNC:3660 ENSG00000171055 fasciculation and elongation protein zeta 2 FEZ2 fasciculation and elongation protein zeta 2 (zygin II), zygin II Yes No Comparative Toxicogenomics Database:9637, Ensembl:ENSG00000171055, GenAtlas:FEZ2, GeneCard:FEZ2, HGNC:HGNC:3660, HumanCyc Gene:HS10236, ModBase:Q9UHY8, NCBI Gene:9637, OMIM:604826, RefSeq DNA:NT_022184, RefSeq Protein:NP_001036013, RefSeq Protein:NP_005093, RefSeq RNA:NM_001042548, RefSeq RNA:NM_005102, UCSC Genome Browser:NM_005102, UniProtKB:Q5EBN3, UniProtKB:Q9UHY8 No chr2 36779397 36825333 36552239 36598190 +PA162388419 389549 HGNC:22788 ENSG00000128610 FEZ family zinc finger 1 FEZF1 ZNF312B Yes No Ensembl:ENSG00000128610, GeneCard:FEZF1, HGNC:HGNC:22788, NCBI Gene:389549, OMIM:613301, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001019784, RefSeq Protein:NP_001153736, RefSeq RNA:NM_001024613, RefSeq RNA:NM_001160264, UniProtKB:A0PJY2 No chr7 121941373 121951173 122300939 122311855 +PA162388420 55079 HGNC:13506 ENSG00000153266 FEZ family zinc finger 2 FEZF2 forebrain embryonic zinc finger-like protein, too few FEZL, FKSG36, FLJ10142, TOF, ZNF312, Zfp312 Yes No Ensembl:ENSG00000153266, GeneCard:FEZF2, HGNC:HGNC:13506, HumanCyc Gene:HS14463, ModBase:Q8TBJ5, NCBI Gene:55079, OMIM:607414, RefSeq DNA:NT_022517, RefSeq Protein:NP_060478, RefSeq RNA:NM_018008, UniProtKB:Q8TBJ5 No chr3 62355347 62359190 62369672 62373515 +PA28887 2864 HGNC:4498 ENSG00000126266 free fatty acid receptor 1 FFAR1 FFA1R, GPR40 Yes No Ensembl:ENSG00000126266, GenAtlas:FFAR1, GeneCard:FFAR1, HGNC:HGNC:4498, HumanCyc Gene:HS05009, IUPHAR Receptor:225, ModBase:O14842, NCBI Gene:2864, OMIM:603820, RefSeq DNA:NT_011109, RefSeq Protein:NP_005294, RefSeq RNA:NM_005303, UCSC Genome Browser:NM_005303, UniProtKB:O14842 No chr19 35841645 35844764 35351542 35352464 +PA28890 2867 HGNC:4501 ENSG00000126262 free fatty acid receptor 2 FFAR2 FFA2R, GPR43 Yes No Comparative Toxicogenomics Database:2867, Ensembl:ENSG00000126262, GenAtlas:FFAR2, GeneCard:FFAR2, HGNC:HGNC:4501, HumanCyc Gene:HS05007, IUPHAR Receptor:226, ModBase:O15552, NCBI Gene:2867, OMIM:603823, RefSeq DNA:NT_011109, RefSeq Protein:NP_005297, RefSeq RNA:NM_005306, UCSC Genome Browser:NM_005306, UniProtKB:C6KYL4, UniProtKB:O15552 No chr19 35939185 35942669 35447965 35451767 +PA28888 2865 HGNC:4499 ENSG00000185897 free fatty acid receptor 3 FFAR3 FFA3R, GPR41 Yes No Ensembl:ENSG00000185897, GenAtlas:FFAR3, GeneCard:FFAR3, HGNC:HGNC:4499, IUPHAR Receptor:227, ModBase:O14843, NCBI Gene:2865, OMIM:603821, RefSeq DNA:NT_011109, RefSeq Protein:NP_005295, RefSeq RNA:NM_005304, UCSC Genome Browser:NM_005304, UniProtKB:O14843 No chr19 35849249 35851391 35358106 35360491 +PA134924595 338557 HGNC:19061 ENSG00000186188 free fatty acid receptor 4 FFAR4 GPR120, GPR129, O3FAR1, PGR4 Yes No Ensembl:ENSG00000186188, GeneCard:GPR120, HGNC:HGNC:19061, IUPHAR Receptor:127, ModBase:Q5NUL3, NCBI Gene:338557, OMIM:609044, RefSeq DNA:NT_030059, RefSeq Protein:NP_001182684, RefSeq Protein:NP_859529, RefSeq RNA:NM_001195755, RefSeq RNA:NM_181745, UniProtKB:Q5NUL3 No chr10 95326422 95349829 93566179 93590072 +PA429 2243 HGNC:3661 ENSG00000171560 fibrinogen alpha chain FGA Yes Yes Comparative Toxicogenomics Database:2243, Ensembl:ENSG00000171560, GenAtlas:FGA, GeneCard:FGA, HGNC:HGNC:3661, HumanCyc Gene:HS10342, ModBase:P02671, NCBI Gene:2243, OMIM:105200, OMIM:134820, OMIM:202400, RefSeq DNA:NG_008832, RefSeq DNA:NT_016354, RefSeq Protein:NP_000499, RefSeq Protein:NP_068657, RefSeq RNA:NM_000508, RefSeq RNA:NM_021871, UCSC Genome Browser:NM_000508, UniProtKB:P02671 No chr4 155504280 155511897 154583126 154590766 +PA163 2244 HGNC:3662 ENSG00000171564 fibrinogen beta chain FGB Yes No Comparative Toxicogenomics Database:2244, Ensembl:ENSG00000171564, GenAtlas:FGB, GeneCard:FGB, HGNC:HGNC:3662, HumanCyc Gene:HS10344, ModBase:P02675, NCBI Gene:2244, OMIM:134830, OMIM:202400, RefSeq DNA:NG_008833, RefSeq DNA:NT_016354, RefSeq Protein:NP_001171670, RefSeq Protein:NP_005132, RefSeq RNA:NM_001184741, RefSeq RNA:NM_005141, UCSC Genome Browser:NM_005141, UniProtKB:P02675 No chr4 155484132 155493915 154562980 154572763 +PA28102 2245 HGNC:3663 ENSG00000102302 FYVE, RhoGEF and PH domain containing 1 FGD1 FGDY, ZFYVE3 Yes No Comparative Toxicogenomics Database:2245, Ensembl:ENSG00000102302, GenAtlas:FGD1, GeneCard:FGD1, HGNC:HGNC:3663, HumanCyc Gene:HS02380, ModBase:P98174, NCBI Gene:2245, OMIM:300546, OMIM:305400, RefSeq DNA:NG_008054, RefSeq DNA:NT_011630, RefSeq Protein:NP_004454, RefSeq RNA:NM_004463, UCSC Genome Browser:NM_004463, UniProtKB:P98174 No chrX 54471887 54522599 54445454 54496166 +PA28103 221472 HGNC:3664 ENSG00000146192 FYVE, RhoGEF and PH domain containing 2 FGD2 ZFYVE4 Yes No Ensembl:ENSG00000146192, GenAtlas:FGD2, GeneCard:FGD2, HGNC:HGNC:3664, HumanCyc Gene:HS14134, ModBase:Q7Z6J4, NCBI Gene:221472, OMIM:605091, RefSeq DNA:NT_007592, RefSeq Protein:NP_775829, RefSeq RNA:NM_173558, UCSC Genome Browser:NM_173558, UniProtKB:Q7Z6J4 No chr6 36973423 36996845 37005647 37029072 +PA28104 89846 HGNC:16027 ENSG00000127084 FYVE, RhoGEF and PH domain containing 3 FGD3 FLJ00004, ZFYVE5 Yes No Comparative Toxicogenomics Database:89846, Ensembl:ENSG00000127084, GenAtlas:FGD3, GeneCard:FGD3, HGNC:HGNC:16027, HumanCyc Gene:HS05074, ModBase:Q5JSP0, NCBI Gene:89846, RefSeq DNA:NT_008470, RefSeq Protein:NP_001077005, RefSeq Protein:NP_149077, RefSeq RNA:NM_001083536, RefSeq RNA:NM_033086, UCSC Genome Browser:NM_033086, UniProtKB:Q5JSP0 No chr9 95709601 95798518 92947319 93036236 +PA134907925 121512 HGNC:19125 ENSG00000139132 FYVE, RhoGEF and PH domain containing 4 FGD4 CMT4H, FRABP, ZFYVE6, frabin Yes Yes Comparative Toxicogenomics Database:121512, Ensembl:ENSG00000139132, GeneCard:FGD4, HGNC:HGNC:19125, HumanCyc Gene:HS06582, ModBase:Q96M96, NCBI Gene:121512, OMIM:609311, OMIM:611104, RefSeq DNA:NG_008626, RefSeq DNA:NT_009714, RefSeq Protein:NP_640334, RefSeq RNA:NM_139241, UniProtKB:Q96M96 No chr12 32552518 32798984 32399523 32646050 +PA134874843 152273 HGNC:19117 ENSG00000154783 FYVE, RhoGEF and PH domain containing 5 FGD5 FLJ00274, FLJ39957, ZFYVE23 Yes No Ensembl:ENSG00000154783, GeneCard:FGD5, HGNC:HGNC:19117, HumanCyc Gene:HS08010, ModBase:Q6ZNL6, NCBI Gene:152273, RefSeq DNA:NT_022517, RefSeq Protein:NP_689749, RefSeq RNA:NM_152536, UniProtKB:Q6ZNL6 No chr3 14852247 14976072 14818962 14934565 +PA134967436 55785 HGNC:21740 ENSG00000180263 FYVE, RhoGEF and PH domain containing 6 FGD6 FLJ11183, ZFYVE24 Yes No Comparative Toxicogenomics Database:55785, Ensembl:ENSG00000180263, GeneCard:FGD6, HGNC:HGNC:21740, ModBase:Q6ZV73, NCBI Gene:55785, OMIM:613520, RefSeq DNA:NT_029419, RefSeq Protein:NP_060821, RefSeq RNA:NM_018351, UniProtKB:Q6ZV73 No chr12 95470525 95611240 95076749 95217464 +PA28105 2246 HGNC:3665 ENSG00000113578 fibroblast growth factor 1 FGF1 """endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"", ""fibroblast growth factor 1 (acidic)"", ""heparin-binding growth factor 1""" AFGF, ECGF, ECGF-beta, ECGFA, ECGFB, FGF-alpha, FGFA, GLIO703, HBGF1 Yes No Comparative Toxicogenomics Database:2246, Ensembl:ENSG00000113578, GenAtlas:FGF1, GeneCard:FGF1, HGNC:HGNC:3665, HumanCyc Gene:HS03697, ModBase:P05230, NCBI Gene:2246, OMIM:131220, RefSeq DNA:NT_029289, RefSeq Protein:NP_000791, RefSeq Protein:NP_001138364, RefSeq Protein:NP_001138406, RefSeq Protein:NP_001138407, RefSeq Protein:NP_149127, RefSeq Protein:NP_149128, RefSeq RNA:NM_000800, RefSeq RNA:NM_001144892, RefSeq RNA:NM_001144934, RefSeq RNA:NM_001144935, RefSeq RNA:NM_033136, RefSeq RNA:NM_033137, RefSeq RNA:NR_026695, RefSeq RNA:NR_026696, UCSC Genome Browser:NM_000800, UniProtKB:P05230, UniProtKB:Q16089 No chr5 141971743 142077635 142592178 142698070 +PA28106 2255 HGNC:3666 ENSG00000070193 fibroblast growth factor 10 FGF10 Yes No Comparative Toxicogenomics Database:2255, Ensembl:ENSG00000070193, GenAtlas:FGF10, GeneCard:FGF10, HGNC:HGNC:3666, HumanCyc Gene:HS00989, ModBase:O15520, NCBI Gene:2255, OMIM:149730, OMIM:180920, OMIM:602115, RefSeq DNA:NG_011446, RefSeq DNA:NT_006576, RefSeq Protein:NP_004456, RefSeq RNA:NM_004465, UCSC Genome Browser:NM_004465, UniProtKB:C7FDY0, UniProtKB:O15520 No chr5 44305004 44389808 44301655 44389780 +PA28107 2256 HGNC:3667 ENSG00000161958 fibroblast growth factor 11 FGF11 fibroblast growth factor homologous factor 3 FHF3, FLJ16061, MGC102953, MGC45269 Yes No Ensembl:ENSG00000161958, GenAtlas:FGF11, GeneCard:FGF11, HGNC:HGNC:3667, HumanCyc Gene:HS08629, ModBase:Q92914, NCBI Gene:2256, OMIM:601514, RefSeq DNA:NT_010718, RefSeq Protein:NP_004103, RefSeq RNA:NM_004112, UCSC Genome Browser:NM_004112, UniProtKB:Q92914 No chr17 7341784 7348256 7438273 7444932 +PA28108 2257 HGNC:3668 ENSG00000114279 fibroblast growth factor 12 FGF12 fibroblast growth factor 12B, fibroblast growth factor FGF-12b, fibroblast growth factor homologous factor 1, myocyte-activating factor FGF12B, FHF1 Yes No Comparative Toxicogenomics Database:2257, Ensembl:ENSG00000114279, GenAtlas:FGF12, GeneCard:FGF12, HGNC:HGNC:3668, HumanCyc Gene:HS03752, ModBase:P61328, NCBI Gene:2257, OMIM:601513, RefSeq DNA:NT_005612, RefSeq Protein:NP_004104, RefSeq Protein:NP_066360, RefSeq RNA:NM_004113, RefSeq RNA:NM_021032, UCSC Genome Browser:NM_004113, UniProtKB:P61328 No chr3 191857033 192445388 192139393 192727599 +PA28109 2258 HGNC:3670 ENSG00000129682 fibroblast growth factor 13 FGF13 fibroblast growth factor homologous factor 2 FGF2, FHF2, FLJ30672, LINC00889 Yes No Comparative Toxicogenomics Database:2258, Ensembl:ENSG00000129682, GenAtlas:FGF13, GeneCard:FGF13, HGNC:HGNC:3670, HumanCyc Gene:HS05306, ModBase:Q92913, NCBI Gene:2258, OMIM:300070, RefSeq DNA:NT_011786, RefSeq Protein:NP_001132970, RefSeq Protein:NP_001132972, RefSeq Protein:NP_001132973, RefSeq Protein:NP_001132974, RefSeq Protein:NP_004105, RefSeq Protein:NP_378668, RefSeq RNA:NM_001139498, RefSeq RNA:NM_001139500, RefSeq RNA:NM_001139501, RefSeq RNA:NM_001139502, RefSeq RNA:NM_004114, RefSeq RNA:NM_033642, UCSC Genome Browser:NM_004114, UniProtKB:A8K1P5, UniProtKB:B7Z4M7, UniProtKB:B7Z8N0, UniProtKB:Q92913 No chrX 137713734 138305051 138631573 139222889 +PA28110 2259 HGNC:3671 ENSG00000102466 fibroblast growth factor 14 FGF14 FHF4, SCA27 Yes Yes Comparative Toxicogenomics Database:2259, Ensembl:ENSG00000102466, GenAtlas:FGF14, GeneCard:FGF14, HGNC:HGNC:3671, HumanCyc Gene:HS02391, ModBase:Q92915, NCBI Gene:2259, OMIM:601515, OMIM:609307, RefSeq DNA:NG_008317, RefSeq DNA:NT_009952, RefSeq Protein:NP_004106, RefSeq Protein:NP_787125, RefSeq RNA:NM_004115, RefSeq RNA:NM_175929, UCSC Genome Browser:NM_004115, UniProtKB:Q92915 No chr13 102373205 103054124 101720855 102402428 +PA28111 8823 HGNC:3672 ENSG00000196468 fibroblast growth factor 16 FGF16 MF4 Yes No Comparative Toxicogenomics Database:8823, Ensembl:ENSG00000196468, GenAtlas:FGF16, GeneCard:FGF16, HGNC:HGNC:3672, ModBase:O43320, NCBI Gene:8823, OMIM:603724, RefSeq DNA:NT_011651, RefSeq Protein:NP_003859, RefSeq RNA:NM_003868, UCSC Genome Browser:NM_003868, UniProtKB:O43320 No chrX 76709645 76712013 77447675 77456522 +PA28112 8822 HGNC:3673 ENSG00000158815 fibroblast growth factor 17 FGF17 FGF-13 Yes No Comparative Toxicogenomics Database:8822, Ensembl:ENSG00000158815, GenAtlas:FGF17, GeneCard:FGF17, HGNC:HGNC:3673, HumanCyc Gene:HS08333, ModBase:O60258, NCBI Gene:8822, OMIM:603725, RefSeq DNA:NT_167187, RefSeq Protein:NP_003858, RefSeq RNA:NM_003867, UCSC Genome Browser:NM_003867, UniProtKB:O60258 No chr8 21900264 21906320 22039708 22048809 +PA28113 8817 HGNC:3674 ENSG00000156427 fibroblast growth factor 18 FGF18 FGF-18, ZFGF5 Yes No Comparative Toxicogenomics Database:8817, Ensembl:ENSG00000156427, GenAtlas:FGF18, GeneCard:FGF18, HGNC:HGNC:3674, HumanCyc Gene:HS08126, ModBase:O76093, NCBI Gene:8817, OMIM:603726, RefSeq DNA:NT_023133, RefSeq Protein:NP_003853, RefSeq RNA:NM_003862, UCSC Genome Browser:NM_003862, UniProtKB:O76093 No chr5 170846667 170884630 171419663 171457626 +PA28114 9965 HGNC:3675 ENSG00000162344 fibroblast growth factor 19 FGF19 Yes No Comparative Toxicogenomics Database:9965, Ensembl:ENSG00000162344, GenAtlas:FGF19, GeneCard:FGF19, HGNC:HGNC:3675, HumanCyc Gene:HS08659, ModBase:O95750, NCBI Gene:9965, OMIM:603891, RefSeq DNA:NT_167190, RefSeq Protein:NP_005108, RefSeq RNA:NM_005117, UCSC Genome Browser:NM_005117, UniProtKB:O95750 No chr11 69513006 69519106 69698238 69704338 +PA28115 2247 HGNC:3676 ENSG00000138685 fibroblast growth factor 2 FGF2 fibroblast growth factor 2 (basic) FGFB Yes Yes Comparative Toxicogenomics Database:2247, Ensembl:ENSG00000138685, GenAtlas:FGF2, GeneCard:FGF2, HGNC:HGNC:3676, HumanCyc Gene:HS06536, ModBase:P09038, NCBI Gene:2247, OMIM:134920, RefSeq DNA:NT_016354, RefSeq Protein:NP_001997, RefSeq RNA:NM_002006, UCSC Genome Browser:NM_002006, UniProtKB:P09038 No chr4 123747568 123819390 122826708 122898235 +PA28116 26281 HGNC:3677 ENSG00000078579 fibroblast growth factor 20 FGF20 Yes No Comparative Toxicogenomics Database:26281, Ensembl:ENSG00000078579, GenAtlas:FGF20, GeneCard:FGF20, HGNC:HGNC:3677, HumanCyc Gene:HS01290, ModBase:Q9NP95, NCBI Gene:26281, OMIM:168600, OMIM:605558, RefSeq DNA:NG_015978, RefSeq DNA:NT_167187, RefSeq Protein:NP_062825, RefSeq RNA:NM_019851, UCSC Genome Browser:NM_019851, UniProtKB:B2RPH5, UniProtKB:Q9NP95 No chr8 16850334 16859674 16992825 17002165 +PA28117 26291 HGNC:3678 ENSG00000105550 fibroblast growth factor 21 FGF21 Yes No Comparative Toxicogenomics Database:26291, Ensembl:ENSG00000105550, GenAtlas:FGF21, GeneCard:FGF21, HGNC:HGNC:3678, HumanCyc Gene:HS02760, ModBase:Q9NSA1, NCBI Gene:26291, OMIM:609436, RefSeq DNA:NT_011109, RefSeq Protein:NP_061986, RefSeq RNA:NM_019113, UCSC Genome Browser:NM_019113, UniProtKB:Q9NSA1 No chr19 49258816 49261587 48755559 48758330 +PA28118 27006 HGNC:3679 ENSG00000070388 fibroblast growth factor 22 FGF22 Yes No Ensembl:ENSG00000070388, GenAtlas:FGF22, GeneCard:FGF22, HGNC:HGNC:3679, HumanCyc Gene:HS00993, ModBase:Q9HCT0, NCBI Gene:27006, OMIM:605831, RefSeq DNA:NT_011255, RefSeq Protein:NP_065688, RefSeq RNA:NM_020637, UCSC Genome Browser:NM_020637, UniProtKB:Q9HCT0 No chr19 639901 643824 639895 643703 +PA28119 8074 HGNC:3680 ENSG00000118972 fibroblast growth factor 23 FGF23 Yes No Comparative Toxicogenomics Database:8074, Ensembl:ENSG00000118972, GenAtlas:FGF23, GeneCard:FGF23, HGNC:HGNC:3680, HumanCyc Gene:HS04266, ModBase:Q9GZV9, NCBI Gene:8074, OMIM:193100, OMIM:211900, OMIM:605380, RefSeq DNA:NG_007087, RefSeq DNA:NT_009759, RefSeq Protein:NP_065689, RefSeq RNA:NM_020638, UCSC Genome Browser:NM_020638, UniProtKB:Q9GZV9 No chr12 4477393 4488894 4368227 4379728 +PA28120 2248 HGNC:3681 ENSG00000186895 fibroblast growth factor 3 FGF3 """INT-2 proto-oncogene protein"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"", ""oncogene INT2""" HBGF-3, INT2 Yes No Comparative Toxicogenomics Database:2248, Ensembl:ENSG00000186895, GenAtlas:FGF3, GeneCard:FGF3, HGNC:HGNC:3681, ModBase:P11487, NCBI Gene:2248, OMIM:164950, OMIM:610706, RefSeq DNA:NG_009016, RefSeq DNA:NT_167190, RefSeq Protein:NP_005238, RefSeq RNA:NM_005247, UCSC Genome Browser:NM_005247, UniProtKB:P11487 No chr11 69624736 69634192 69809968 69819424 +PA28121 2249 HGNC:3682 ENSG00000075388 fibroblast growth factor 4 FGF4 """human stomach cancer, transforming factor from FGF-related oncogene"", ""kaposi sarcoma oncogene"", ""transforming protein KS3""" HBGF-4, HST, HST-1, HSTF1, K-FGF, KFGF Yes No Comparative Toxicogenomics Database:2249, Ensembl:ENSG00000075388, GenAtlas:FGF4, GeneCard:FGF4, HGNC:HGNC:3682, HumanCyc Gene:HS01173, ModBase:P08620, NCBI Gene:2249, OMIM:164980, RefSeq DNA:NT_167190, RefSeq Protein:NP_001998, RefSeq RNA:NM_002007, UCSC Genome Browser:NM_002007, UniProtKB:P08620 No chr11 69587797 69590171 69773029 69775403 +PA28122 2250 HGNC:3683 ENSG00000138675 fibroblast growth factor 5 FGF5 Yes Yes Comparative Toxicogenomics Database:2250, Ensembl:ENSG00000138675, GenAtlas:FGF5, GeneCard:FGF5, HGNC:HGNC:3683, HumanCyc Gene:HS06533, ModBase:P12034, NCBI Gene:2250, OMIM:165190, RefSeq DNA:NT_016354, RefSeq Protein:NP_004455, RefSeq Protein:NP_149134, RefSeq RNA:NM_004464, RefSeq RNA:NM_033143, UCSC Genome Browser:NM_004464, UniProtKB:P12034, UniProtKB:Q8NBG6, UniProtKB:Q8NF90 No chr4 81187742 81212171 80266588 80291017 +PA28123 2251 HGNC:3684 ENSG00000111241 fibroblast growth factor 6 FGF6 Yes No Comparative Toxicogenomics Database:2251, Ensembl:ENSG00000111241, GenAtlas:FGF6, GeneCard:FGF6, HGNC:HGNC:3684, HumanCyc Gene:HS03385, ModBase:P10767, NCBI Gene:2251, OMIM:134921, RefSeq DNA:NT_009759, RefSeq Protein:NP_066276, RefSeq RNA:NM_020996, UCSC Genome Browser:NM_020996, UniProtKB:P10767 No chr12 4543308 4554780 4434142 4445799 +PA28124 2252 HGNC:3685 ENSG00000140285 fibroblast growth factor 7 FGF7 keratinocyte growth factor KGF Yes No Comparative Toxicogenomics Database:2252, Ensembl:ENSG00000140285, GenAtlas:FGF7, GeneCard:FGF7, HGNC:HGNC:3685, HumanCyc Gene:HS06696, ModBase:P21781, NCBI Gene:2252, OMIM:148180, RefSeq DNA:NT_010194, RefSeq Protein:NP_002000, RefSeq RNA:NM_002009, UCSC Genome Browser:NM_002009, UniProtKB:P21781, UniProtKB:Q6FGV5 No chr15 49715375 49779523 49423178 49487326 +PA142671763 387559 HGNC:21455 ENSG00000264061 fibroblast growth factor 7 pseudogene 1 FGF7P1 HsT283 Yes No Ensembl:ENSG00000264061, GeneCard:FGF7P1, HGNC:HGNC:21455, NCBI Gene:387559, RefSeq DNA:NG_006580, RefSeq DNA:NT_010859 No chr18 14885895 14890090 14885896 14890091 +PA134880152 394217 HGNC:17193 ENSG00000185390 fibroblast growth factor 7 pseudogene 2 FGF7P2 Yes No Ensembl:ENSG00000185390, GeneCard:FGF7P2, HGNC:HGNC:17193, NCBI Gene:394217, RefSeq DNA:NG_005961, RefSeq DNA:NT_011512 No chr21 14721586 14725781 13349265 13353460 +PA28125 2253 HGNC:3686 ENSG00000107831 fibroblast growth factor 8 FGF8 androgen-induced growth factor, fibroblast growth factor 8 (androgen-induced) AIGF Yes No Comparative Toxicogenomics Database:2253, Ensembl:ENSG00000107831, GenAtlas:FGF8, GeneCard:FGF8, HGNC:HGNC:3686, HumanCyc Gene:HS03034, ModBase:P55075, NCBI Gene:2253, OMIM:600483, OMIM:612702, RefSeq DNA:NG_007151, RefSeq DNA:NT_030059, RefSeq Protein:NP_001193318, RefSeq Protein:NP_006110, RefSeq Protein:NP_149353, RefSeq Protein:NP_149354, RefSeq Protein:NP_149355, RefSeq RNA:NM_001206389, RefSeq RNA:NM_006119, RefSeq RNA:NM_033163, RefSeq RNA:NM_033164, RefSeq RNA:NM_033165, UCSC Genome Browser:NM_006119, UniProtKB:P55075 No chr10 103529887 103540126 101770130 101780369 +PA28126 2254 HGNC:3687 ENSG00000102678 fibroblast growth factor 9 FGF9 fibroblast growth factor 9 (glia-activating factor), glia-activating factor Yes No Comparative Toxicogenomics Database:2254, Ensembl:ENSG00000102678, GenAtlas:FGF9, GeneCard:FGF9, HGNC:HGNC:3687, HumanCyc Gene:HS02402, ModBase:P31371, NCBI Gene:2254, OMIM:600921, OMIM:612961, RefSeq DNA:NG_016272, RefSeq DNA:NT_024524, RefSeq Protein:NP_002001, RefSeq RNA:NM_002010, UCSC Genome Browser:NM_002010, UniProtKB:P31371 No chr13 22245215 22278640 21671076 21704501 +PA134880558 9982 HGNC:19695 ENSG00000137440 fibroblast growth factor binding protein 1 FGFBP1 FGFBP, HBP17 Yes Yes Comparative Toxicogenomics Database:9982, Ensembl:ENSG00000137440, GeneCard:FGFBP1, HGNC:HGNC:19695, HumanCyc Gene:HS06341, ModBase:Q14512, NCBI Gene:9982, OMIM:607737, RefSeq DNA:NT_006316, RefSeq Protein:NP_005121, RefSeq RNA:NM_005130, UniProtKB:Q14512 No chr4 15937192 15940363 15935569 15938740 +PA162388435 83888 HGNC:29451 ENSG00000137441 fibroblast growth factor binding protein 2 FGFBP2 killer-specific secretory protein of 37 kDa KSP37 Yes Yes Ensembl:ENSG00000137441, GeneCard:FGFBP2, HGNC:HGNC:29451, HumanCyc Gene:HS13681, ModBase:Q9BYJ0, NCBI Gene:83888, OMIM:607713, RefSeq DNA:NT_006316, RefSeq Protein:NP_114156, RefSeq RNA:NM_031950, UniProtKB:Q9BYJ0 No chr4 15961863 15964859 15960240 15963236 +PA162388444 143282 HGNC:23428 ENSG00000174721 fibroblast growth factor binding protein 3 FGFBP3 C10orf13, MGC39320 Yes No Ensembl:ENSG00000174721, GeneCard:FGFBP3, HGNC:HGNC:23428, HumanCyc Gene:HS16385, NCBI Gene:143282, RefSeq DNA:NT_030059, RefSeq Protein:NP_689642, RefSeq RNA:NM_152429, UniProtKB:Q8TAT2 No chr10 93666345 93669258 91906588 91909501 +PA28127 2260 HGNC:3688 ENSG00000077782 fibroblast growth factor receptor 1 FGFR1 Pfeiffer syndrome BFGFR, CD331, CEK, FLG, FLT2, H2, H3, H4, H5, KAL2, N-SAM Yes No Comparative Toxicogenomics Database:2260, Ensembl:ENSG00000077782, GenAtlas:FGFR1, GeneCard:FGFR1, HGNC:HGNC:3688, HumanCyc Gene:HS01257, ModBase:Q5BJG2, NCBI Gene:2260, OMIM:101600, OMIM:123150, OMIM:136350, OMIM:146110, OMIM:147950, OMIM:166250, OMIM:190440, OMIM:207410, RefSeq DNA:NG_007729, RefSeq DNA:NT_167187, RefSeq Protein:NP_001167534, RefSeq Protein:NP_001167535, RefSeq Protein:NP_001167536, RefSeq Protein:NP_001167537, RefSeq Protein:NP_001167538, RefSeq Protein:NP_056934, RefSeq Protein:NP_075593, RefSeq Protein:NP_075594, RefSeq Protein:NP_075595, RefSeq Protein:NP_075596, RefSeq Protein:NP_075598, RefSeq Protein:NP_075599, RefSeq RNA:NM_001174063, RefSeq RNA:NM_001174064, RefSeq RNA:NM_001174065, RefSeq RNA:NM_001174066, RefSeq RNA:NM_001174067, RefSeq RNA:NM_015850, RefSeq RNA:NM_023105, RefSeq RNA:NM_023106, RefSeq RNA:NM_023107, RefSeq RNA:NM_023108, RefSeq RNA:NM_023110, RefSeq RNA:NM_023111, UCSC Genome Browser:NM_000604, UniProtKB:P11362, UniProtKB:Q59H40 No chr8 38268656 38326352 38411138 38468834 +PA134972108 26127 HGNC:23098 ENSG00000111790 FGFR1 oncogene partner 2 FGFR1OP2 DKFZp564O1863 Yes No Comparative Toxicogenomics Database:26127, Ensembl:ENSG00000111790, GeneCard:FGFR1OP2, HGNC:HGNC:23098, HumanCyc Gene:HS12750, ModBase:Q9NVK5, NCBI Gene:26127, OMIM:608858, RefSeq DNA:NT_009714, RefSeq Protein:NP_001165358, RefSeq Protein:NP_001165359, RefSeq Protein:NP_056448, RefSeq RNA:NM_001171887, RefSeq RNA:NM_001171888, RefSeq RNA:NM_015633, UniProtKB:Q9NVK5 No chr12 27091305 27119581 26938372 26966648 +PA28128 2263 HGNC:3689 ENSG00000066468 fibroblast growth factor receptor 2 FGFR2 Crouzon syndrome, Pfeiffer syndrome BEK, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25 Yes Yes Comparative Toxicogenomics Database:2263, Ensembl:ENSG00000066468, GenAtlas:FGFR2, GeneCard:FGFR2, HGNC:HGNC:3689, HumanCyc Gene:HS00881, ModBase:Q9UQH7, NCBI Gene:2263, OMIM:101200, OMIM:101400, OMIM:101600, OMIM:123150, OMIM:123500, OMIM:123790, OMIM:137215, OMIM:149730, OMIM:176943, OMIM:207410, OMIM:609579, RefSeq DNA:NG_012449, RefSeq DNA:NT_030059, RefSeq Protein:NP_000132, RefSeq Protein:NP_001138385, RefSeq Protein:NP_001138386, RefSeq Protein:NP_001138387, RefSeq Protein:NP_001138388, RefSeq Protein:NP_001138389, RefSeq Protein:NP_001138390, RefSeq Protein:NP_001138391, RefSeq Protein:NP_075259, RefSeq RNA:NM_000141, RefSeq RNA:NM_001144913, RefSeq RNA:NM_001144914, RefSeq RNA:NM_001144915, RefSeq RNA:NM_001144916, RefSeq RNA:NM_001144917, RefSeq RNA:NM_001144918, RefSeq RNA:NM_001144919, RefSeq RNA:NM_022970, UCSC Genome Browser:NM_000141, UniProtKB:B4DFC2, UniProtKB:P21802, UniProtKB:Q8IXC7 No chr10 123237844 123357972 121478330 121598656 +PA28129 2261 HGNC:3690 ENSG00000068078 fibroblast growth factor receptor 3 FGFR3 ACH, CD333, CEK2, JTK4 Yes No Comparative Toxicogenomics Database:2261, Ensembl:ENSG00000068078, GenAtlas:FGFR3, GeneCard:FGFR3, HGNC:HGNC:3690, HumanCyc Gene:HS00929, ModBase:P22607, NCBI Gene:2261, OMIM:100800, OMIM:109800, OMIM:134934, OMIM:146000, OMIM:149730, OMIM:162900, OMIM:187600, OMIM:602849, OMIM:603956, OMIM:610474, OMIM:612247, RefSeq DNA:NG_012632, RefSeq DNA:NT_006051, RefSeq Protein:NP_000133, RefSeq Protein:NP_001156685, RefSeq Protein:NP_075254, RefSeq RNA:NM_000142, RefSeq RNA:NM_001163213, RefSeq RNA:NM_022965, UCSC Genome Browser:NM_000142, UniProtKB:P22607, UniProtKB:Q0IJ44, UniProtKB:Q59FL9 No chr4 1795039 1810599 1793299 1808872 +PA28131 100462812 HGNC:21664 ENSG00000230994 fibroblast growth factor receptor 3 pseudogene 1 FGFR3P1 FGFR6 Yes No Ensembl:ENSG00000230994, GenAtlas:FGFR6, GeneCard:FGFR6, HGNC:HGNC:21664, NCBI Gene:100462812 No chr6 31345494 31345805 31377717 31378028 +PA28130 2264 HGNC:3691 ENSG00000160867 fibroblast growth factor receptor 4 FGFR4 tyrosine kinase related to fibroblast growth factor receptor CD334, JTK2, TKF Yes Yes Comparative Toxicogenomics Database:2264, Ensembl:ENSG00000160867, GenAtlas:FGFR4, GeneCard:FGFR4, HGNC:HGNC:3691, HumanCyc Gene:HS08543, ModBase:P22455, NCBI Gene:2264, OMIM:134935, RefSeq DNA:NG_012067, RefSeq DNA:NT_023133, RefSeq Protein:NP_002002, RefSeq Protein:NP_075252, RefSeq Protein:NP_998812, RefSeq RNA:NM_002011, RefSeq RNA:NM_022963, RefSeq RNA:NM_213647, UCSC Genome Browser:NM_002011, UniProtKB:P22455, UniProtKB:Q96KE5 No chr5 176513906 176525143 177086872 177098144 +PA28132 53834 HGNC:3693 ENSG00000127418 fibroblast growth factor receptor like 1 FGFRL1 fibroblast growth factor receptor 5, fibroblast growth factor receptor-like 1 FGFR5 Yes No Comparative Toxicogenomics Database:53834, Ensembl:ENSG00000127418, GenAtlas:FGFRL1, GeneCard:FGFRL1, HGNC:HGNC:3693, HumanCyc Gene:HS05097, ModBase:Q8N441, NCBI Gene:53834, OMIM:605830, RefSeq DNA:NT_037622, RefSeq Protein:NP_001004356, RefSeq Protein:NP_001004358, RefSeq Protein:NP_068742, RefSeq RNA:NM_001004356, RefSeq RNA:NM_001004358, RefSeq RNA:NM_021923, UCSC Genome Browser:NM_021923, UniProtKB:A0PJ49, UniProtKB:Q8N441 No chr4 1004712 1020686 1011822 1026898 +PA430 2266 HGNC:3694 ENSG00000171557 fibrinogen gamma chain FGG Yes Yes Comparative Toxicogenomics Database:2266, Ensembl:ENSG00000171557, GenAtlas:FGG, GeneCard:FGG, HGNC:HGNC:3694, HumanCyc Gene:HS10341, ModBase:P02679, NCBI Gene:2266, OMIM:134850, RefSeq DNA:NG_008834, RefSeq DNA:NT_016354, RefSeq Protein:NP_000500, RefSeq Protein:NP_068656, RefSeq RNA:NM_000509, RefSeq RNA:NM_021870, UCSC Genome Browser:NM_000509, UniProtKB:P02679 No chr4 155525286 155533902 154604134 154612808 +PA162388453 55277 HGNC:25610 ENSG00000172456 FGGY carbohydrate kinase domain containing FGGY FLJ10986 Yes No Ensembl:ENSG00000172456, GeneCard:FGGY, HGNC:HGNC:25610, HumanCyc Gene:HS10517, ModBase:Q96C11, NCBI Gene:55277, OMIM:611370, RefSeq DNA:NT_032977, RefSeq Protein:NP_001106882, RefSeq Protein:NP_060761, RefSeq RNA:NM_001113411, RefSeq RNA:NM_018291, UniProtKB:Q96C11 No chr1 59762625 60228402 59296405 59762730 +PA28133 2267 HGNC:3695 ENSG00000104760 fibrinogen like 1 FGL1 fibrinogen-like 1, hepassocin HFREP-1, HPS Yes No Comparative Toxicogenomics Database:2267, Ensembl:ENSG00000104760, GenAtlas:FGL1, GeneCard:FGL1, HGNC:HGNC:3695, HumanCyc Gene:HS02613, ModBase:Q08830, NCBI Gene:2267, OMIM:605776, RefSeq DNA:NT_167187, RefSeq Protein:NP_004458, RefSeq Protein:NP_671736, RefSeq Protein:NP_963846, RefSeq Protein:NP_963847, RefSeq RNA:NM_004467, RefSeq RNA:NM_147203, RefSeq RNA:NM_201552, RefSeq RNA:NM_201553, UCSC Genome Browser:NM_004467, UniProtKB:Q08830 No chr8 17721894 17767874 17864380 17909983 +PA28134 10875 HGNC:3696 ENSG00000127951 fibrinogen like 2 FGL2 fibrinogen-like 2, fibroleukin T49, pT49 Yes No Comparative Toxicogenomics Database:10875, Ensembl:ENSG00000127951, GenAtlas:FGL2, GeneCard:FGL2, HGNC:HGNC:3696, HumanCyc Gene:HS05141, ModBase:Q14314, NCBI Gene:10875, OMIM:605351, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_006673, RefSeq RNA:NM_006682, UCSC Genome Browser:NM_006682, UniProtKB:A4D1B8, UniProtKB:Q14314 No chr7 76822688 76829150 77193371 77199833 +PA28135 2268 HGNC:3697 ENSG00000000938 FGR proto-oncogene, Src family tyrosine kinase FGR Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog SRC2, c-fgr, p55c-fgr Yes No Comparative Toxicogenomics Database:2268, Ensembl:ENSG00000000938, GenAtlas:FGR, GeneCard:FGR, HGNC:HGNC:3697, HumanCyc Gene:HS00068, ModBase:P09769, NCBI Gene:2268, OMIM:164940, RefSeq DNA:NT_004610, RefSeq Protein:NP_001036194, RefSeq Protein:NP_001036212, RefSeq Protein:NP_005239, RefSeq RNA:NM_001042729, RefSeq RNA:NM_001042747, RefSeq RNA:NM_005248, UCSC Genome Browser:NM_005248, UniProtKB:P09769, UniProtKB:P78453 No chr1 27938800 27961727 27612289 27635561 +PA28139 2271 HGNC:3700 ENSG00000091483 fumarate hydratase FH fumarase Yes No Comparative Toxicogenomics Database:2271, Ensembl:ENSG00000091483, GenAtlas:FH, GeneCard:FH, HGNC:HGNC:3700, HumanCyc Gene:HS01735, ModBase:P07954, NCBI Gene:2271, OMIM:136850, OMIM:150800, OMIM:605839, OMIM:606812, RefSeq DNA:NG_012338, RefSeq DNA:NT_167186, RefSeq Protein:NP_000134, RefSeq RNA:NM_000143, UCSC Genome Browser:NM_000143, UniProtKB:B1ANK7, UniProtKB:P07954 No chr1 241660857 241683085 241497557 241519785 +PA142671762 114827 HGNC:29408 ENSG00000142621 forkhead associated phosphopeptide binding domain 1 FHAD1 forkhead-associated (FHA) phosphopeptide binding domain 1 KIAA1937 Yes No Comparative Toxicogenomics Database:114827, Ensembl:ENSG00000142621, GeneCard:FHAD1, HGNC:HGNC:29408, NCBI Gene:114827, RefSeq DNA:NT_004610, RefSeq Protein:NP_443161, RefSeq RNA:NM_052929, UniProtKB:B1AJZ9 No chr1 15573730 15724767 15236559 15400283 +PA162388490 85462 HGNC:29363 ENSG00000137460 FH2 domain containing 1 FHDC1 Inverted Formin-1 INF1, KIAA1727 Yes No Ensembl:ENSG00000137460, GeneCard:FHDC1, HGNC:HGNC:29363, ModBase:Q9C0D6, NCBI Gene:85462, RefSeq DNA:NT_016354, RefSeq Protein:NP_203751, RefSeq RNA:NM_033393, UniProtKB:Q9C0D6 No chr4 153857265 153900848 152911570 152979696 +PA166351800 729830 HGNC:34237 FHF complex subunit HOOK interacting protein 1A FHIP1A FAM160A1, FHIP-L, FLJ43373 Yes No HGNC:HGNC:34237, NCBI Gene:729830 No 0 0 0 0 +PA166351801 84067 HGNC:25378 FHF complex subunit HOOK interacting protein 1B FHIP1B FTS and Hook interacting protein C11orf56, DKFZP566M1046, FAM160A2, FHIP, FLJ22665, KIAA1759 Yes No HGNC:HGNC:25378, NCBI Gene:84067 No 0 0 0 0 +PA166351802 57700 HGNC:29320 FHF complex subunit HOOK interacting protein 2A FHIP2A FAM160B1, KIAA1600, bA106M7.3 Yes No HGNC:HGNC:29320, NCBI Gene:57700 No 0 0 0 0 +PA166351803 64760 HGNC:16492 FHF complex subunit HOOK interacting protein 2B FHIP2B FAM160B2, FLJ21801, RAI16 Yes No HGNC:HGNC:16492, NCBI Gene:64760 No 0 0 0 0 +PA28140 2272 HGNC:3701 ENSG00000189283 fragile histidine triad diadenosine triphosphatase FHIT bis(5'-adenosyl)-triphosphatase, fragile histidine triad AP3Aase, FRA3B Yes Yes Comparative Toxicogenomics Database:2272, Ensembl:ENSG00000189283, GenAtlas:FHIT, GeneCard:FHIT, HGNC:HGNC:3701, HumanCyc Gene:HS00015, ModBase:P49789, NCBI Gene:2272, OMIM:601153, RefSeq DNA:NG_007551, RefSeq DNA:NT_022517, RefSeq Protein:NP_001159715, RefSeq Protein:NP_002003, RefSeq RNA:NM_001166243, RefSeq RNA:NM_002012, UCSC Genome Browser:NM_002012, UniProtKB:A8K1A9, UniProtKB:P49789, UniProtKB:Q45QG9 No chr3 59735036 61237133 59747278 61251474 +PA28141 2273 HGNC:3702 ENSG00000022267 four and a half LIM domains 1 FHL1 Four-and-a-half LIM domains 1, LIM protein SLIMMER FHL1B, FLH1A, KYO-T, MGC111107, SLIM1, XMPMA, bA535K18.1 Yes No Comparative Toxicogenomics Database:2273, Ensembl:ENSG00000022267, GenAtlas:FHL1, GeneCard:FHL1, HGNC:HGNC:3702, HumanCyc Gene:HS00417, ModBase:Q9Y630, NCBI Gene:2273, OMIM:300163, OMIM:300695, OMIM:300696, OMIM:300717, OMIM:300718, RefSeq DNA:NG_015895, RefSeq DNA:NT_011786, RefSeq Protein:NP_001153171, RefSeq Protein:NP_001153172, RefSeq Protein:NP_001153173, RefSeq Protein:NP_001153174, RefSeq Protein:NP_001153175, RefSeq Protein:NP_001153176, RefSeq Protein:NP_001161291, RefSeq Protein:NP_001440, RefSeq RNA:NM_001159699, RefSeq RNA:NM_001159700, RefSeq RNA:NM_001159701, RefSeq RNA:NM_001159702, RefSeq RNA:NM_001159703, RefSeq RNA:NM_001159704, RefSeq RNA:NM_001167819, RefSeq RNA:NM_001449, RefSeq RNA:NR_027621, UCSC Genome Browser:NM_001449, UniProtKB:B7Z5T4, UniProtKB:B7Z793, UniProtKB:B7Z9A1, UniProtKB:Q13642, UniProtKB:Q6IB30 No chrX 135228861 135293518 136146702 136211359 +PA164 2274 HGNC:3703 ENSG00000115641 four and a half LIM domains 2 FHL2 DRAL, SLIM3 Yes No Comparative Toxicogenomics Database:2274, Ensembl:ENSG00000115641, GenAtlas:FHL2, GeneCard:FHL2, HGNC:HGNC:3703, HumanCyc Gene:HS03920, ModBase:Q14192, NCBI Gene:2274, OMIM:602633, RefSeq DNA:NG_008844, RefSeq DNA:NT_022171, RefSeq Protein:NP_001034581, RefSeq Protein:NP_001441, RefSeq Protein:NP_963849, RefSeq Protein:NP_963851, RefSeq RNA:NM_001039492, RefSeq RNA:NM_001450, RefSeq RNA:NM_201555, RefSeq RNA:NM_201557, UCSC Genome Browser:NM_001450, UniProtKB:Q14192, UniProtKB:Q2XQU9, UniProtKB:Q6I9R8 No chr2 105977272 106055230 105360826 105438773 +PA28142 2275 HGNC:3704 ENSG00000183386 four and a half LIM domains 3 FHL3 SLIM2 Yes No Ensembl:ENSG00000183386, GenAtlas:FHL3, GeneCard:FHL3, HGNC:HGNC:3704, ModBase:Q13643, NCBI Gene:2275, OMIM:602790, RefSeq DNA:NT_032977, RefSeq Protein:NP_004459, RefSeq RNA:NM_004468, UCSC Genome Browser:NM_004468, UniProtKB:Q13643 No chr1 38462439 38471199 37996765 38005515 +PA134971720 9457 HGNC:17371 ENSG00000112214 four and a half LIM domains 5 FHL5 ACT, FLJ33049, dJ393D12.2 Yes No Ensembl:ENSG00000112214, GeneCard:FHL5, HGNC:HGNC:17371, HumanCyc Gene:HS03534, ModBase:Q5TD97, NCBI Gene:9457, OMIM:605126, RefSeq DNA:NT_025741, RefSeq Protein:NP_001164278, RefSeq Protein:NP_065228, RefSeq RNA:NM_001170807, RefSeq RNA:NM_020482, UniProtKB:Q5TD97 No chr6 97010406 97067806 96562525 96618626 +PA28143 29109 HGNC:17905 ENSG00000135723 formin homology 2 domain containing 1 FHOD1 FHOS Yes No Ensembl:ENSG00000135723, GenAtlas:FHOD1, GeneCard:FHOD1, HGNC:HGNC:17905, HumanCyc Gene:HS06054, ModBase:Q9Y613, NCBI Gene:29109, OMIM:606881, RefSeq DNA:NT_010498, RefSeq Protein:NP_037373, RefSeq RNA:NM_013241, UCSC Genome Browser:NM_013241, UniProtKB:Q9Y613 No chr16 67263292 67281425 67229389 67247522 +PA134929910 80206 HGNC:26178 ENSG00000134775 formin homology 2 domain containing 3 FHOD3 FHOS2, FLJ22297, FLJ22717, KIAA1695 Yes No Comparative Toxicogenomics Database:80206, Ensembl:ENSG00000134775, GeneCard:FHOD3, HGNC:HGNC:26178, ModBase:Q2V2M9, NCBI Gene:80206, OMIM:609691, RefSeq DNA:NT_010966, RefSeq Protein:NP_079411, RefSeq RNA:NM_025135, UniProtKB:Q2V2M9 No chr18 33877677 34360019 36297696 36780220 +PA134891641 84929 HGNC:25922 ENSG00000130720 fibrinogen C domain containing 1 FIBCD1 FLJ14810 Yes No Ensembl:ENSG00000130720, GeneCard:FIBCD1, HGNC:HGNC:25922, HumanCyc Gene:HS13346, ModBase:Q8N539, NCBI Gene:84929, OMIM:613357, RefSeq DNA:NT_035014, RefSeq Protein:NP_001138578, RefSeq Protein:NP_116232, RefSeq RNA:NM_001145106, RefSeq RNA:NM_032843, UniProtKB:Q8N539 No chr9 133777825 133814455 130902438 130939068 +PA164720070 387758 HGNC:33747 ENSG00000176971 fin bud initiation factor homolog FIBIN fin bud initiation factor homolog (zebrafish) MGC24932 Yes No Ensembl:ENSG00000176971, GeneCard:FIBIN, HGNC:HGNC:33747, NCBI Gene:387758, RefSeq DNA:NT_009237, RefSeq Protein:NP_976249, RefSeq RNA:NM_203371, UniProtKB:Q8TAL6 No chr11 27015628 27018634 26994081 26997087 +PA28145 9158 HGNC:3705 ENSG00000172500 FGF1 intracellular binding protein FIBP fibroblast growth factor (acidic) intracellular binding protein FGFIBP Yes No Comparative Toxicogenomics Database:9158, Ensembl:ENSG00000172500, GenAtlas:FIBP, GeneCard:FIBP, HGNC:HGNC:3705, HumanCyc Gene:HS10530, NCBI Gene:9158, OMIM:608296, RefSeq DNA:NT_167190, RefSeq Protein:NP_004205, RefSeq Protein:NP_942600, RefSeq RNA:NM_004214, RefSeq RNA:NM_198897, UCSC Genome Browser:NM_004214, UniProtKB:O43427 No chr11 65651211 65656010 65883740 65888539 +PA162388517 11153 HGNC:18416 ENSG00000198855 FIC domain protein adenylyltransferase FICD AMPylase, FIC domain containing, fic S-phase protein cell division homolog (E. coli), huntingtin interacting protein 13 HIP13, HYPE Yes No Ensembl:ENSG00000198855, GeneCard:FICD, HGNC:HGNC:18416, ModBase:Q9BVA6, NCBI Gene:11153, RefSeq DNA:NT_029419, RefSeq Protein:NP_009007, RefSeq RNA:NM_007076, UniProtKB:Q9BVA6 No chr12 108909051 108913380 108515274 108519603 +PA162388528 9896 HGNC:16873 ENSG00000112367 FIG4 phosphoinositide 5-phosphatase FIG4 FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) ALS11, CMT4J, KIAA0274, SAC3, dJ249I4.1, hSac3 Yes No Ensembl:ENSG00000112367, GeneCard:FIG4, HGNC:HGNC:16873, HumanCyc Gene:HS12771, ModBase:Q92562, NCBI Gene:9896, OMIM:609390, OMIM:611228, OMIM:612577, RefSeq DNA:NG_007977, RefSeq DNA:NT_025741, RefSeq Protein:NP_055660, RefSeq RNA:NM_014845, UniProtKB:Q92562 No chr6 110012424 110146634 109691216 109825431 +PA145008379 344018 HGNC:24669 ENSG00000183733 folliculogenesis specific bHLH transcription factor FIGLA factor in the germline alpha, folliculogenesis specific basic helix-loop-helix Figalpha, bHLHc8 Yes No Ensembl:ENSG00000183733, GeneCard:FIGLA, HGNC:HGNC:24669, ModBase:Q6QHK4, NCBI Gene:344018, OMIM:608697, OMIM:612310, RefSeq DNA:NG_013044, RefSeq DNA:NT_022184, RefSeq Protein:NP_001004311, RefSeq RNA:NM_001004311, UniProtKB:Q6QHK4 No chr2 71004442 71017775 70777310 70790643 +PA28147 55137 HGNC:13285 ENSG00000182263 fidgetin, microtubule severing factor FIGN fidgetin Yes No Comparative Toxicogenomics Database:55137, Ensembl:ENSG00000182263, GenAtlas:FIGN, GeneCard:FIGN, HGNC:HGNC:13285, ModBase:Q5HY92, NCBI Gene:55137, OMIM:605295, RefSeq DNA:NT_005403, RefSeq Protein:NP_060556, RefSeq RNA:NM_018086, UCSC Genome Browser:NM_018086, UniProtKB:Q5HY92 No chr2 164461447 164592618 163602611 163736155 +PA28148 63979 HGNC:13286 ENSG00000132436 fidgetin like 1 FIGNL1 fidgetin-like 1 Yes No Comparative Toxicogenomics Database:63979, Ensembl:ENSG00000132436, GenAtlas:FIGNL1, GeneCard:FIGNL1, HGNC:HGNC:13286, HumanCyc Gene:HS05634, ModBase:Q6PIW4, NCBI Gene:63979, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_001036227, RefSeq Protein:NP_071399, RefSeq RNA:NM_001042762, RefSeq RNA:NM_022116, UCSC Genome Browser:NM_022116, UniProtKB:Q6PIW4 No chr7 50511827 50518088 50437327 50450390 +PA162388579 401720 HGNC:13287 ENSG00000261308 fidgetin like 2 FIGNL2 fidgetin-like 2 Yes No Ensembl:ENSG00000261308, GeneCard:FIGNL2, HGNC:HGNC:13287, ModBase:A6NMB9, NCBI Gene:401720, RefSeq DNA:NT_029419, RefSeq Protein:NP_001013712, RefSeq RNA:NM_001013690, UniProtKB:A6NMB9 No chr12 52211676 52242364 51817892 51848753 +PA134992638 27145 HGNC:21015 ENSG00000118407 filamin A interacting protein 1 FILIP1 FILIP, KIAA1275 Yes No Comparative Toxicogenomics Database:27145, Ensembl:ENSG00000118407, GeneCard:FILIP1, HGNC:HGNC:21015, ModBase:Q7Z7B0, NCBI Gene:27145, OMIM:607307, RefSeq DNA:NT_007299, RefSeq Protein:NP_056502, RefSeq RNA:NM_015687, UniProtKB:Q7Z7B0 No chr6 76004607 76203516 75294895 75493829 +PA162388580 11259 HGNC:24589 ENSG00000168386 filamin A interacting protein 1 like FILIP1L GPBP-interacting protein of 130 kDa, downregulated in ovarian cancer 1, filamin A interacting protein 1-like DOC-1, GIP130 Yes No Ensembl:ENSG00000168386, GeneCard:FILIP1L, HGNC:HGNC:24589, HumanCyc Gene:HS09744, ModBase:Q8IUM3, NCBI Gene:11259, OMIM:612993, RefSeq DNA:NT_005612, RefSeq Protein:NP_001035924, RefSeq Protein:NP_055705, RefSeq Protein:NP_878913, RefSeq RNA:NM_001042459, RefSeq RNA:NM_014890, RefSeq RNA:NM_182909, UniProtKB:Q4L180 No chr3 99551988 99833349 99833144 100114513 +PA134875694 81608 HGNC:19124 ENSG00000145216 factor interacting with PAPOLA and CPSF1 FIP1L1 FIP1 like 1 (S. cerevisiae) DKFZp586K0717, FIP1, hFip1 Yes Yes Comparative Toxicogenomics Database:81608, Ensembl:ENSG00000145216, GeneCard:FIP1L1, HGNC:HGNC:19124, HumanCyc Gene:HS07234, ModBase:Q6UN15, NCBI Gene:81608, OMIM:607686, RefSeq DNA:NG_008644, RefSeq DNA:NT_022853, RefSeq Protein:NP_001128409, RefSeq Protein:NP_001128410, RefSeq Protein:NP_112179, RefSeq RNA:NM_001134937, RefSeq RNA:NM_001134938, RefSeq RNA:NM_030917, UniProtKB:B4DIR3, UniProtKB:Q6UN15 No chr4 54243803 54326103 53377572 53462611 +PA142672496 55732 HGNC:25565 ENSG00000000460 FIGNL1 interacting regulator of recombination and mitosis FIRRM Fidgetin-like-1 interacting protein, associating protein with POLO1, chromosome 1 open reading frame 112 Apolo1, C1orf112, FLIP, FLJ10706, MEICA1 Yes No Ensembl:ENSG00000000460, GeneCard:C1orf112, HGNC:HGNC:25565, HumanCyc Gene:HS00067, ModBase:Q9NSG2, NCBI Gene:55732, RefSeq DNA:NT_004487, RefSeq Protein:NP_060656, RefSeq RNA:NM_018186, UniProtKB:Q9NSG2 No chr1 169763224 169822229 169794730 169854080 +PA134984211 51024 HGNC:21689 ENSG00000214253 fission, mitochondrial 1 FIS1 CGI-135 protein, fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae), mitochondrial fission molecule CGI-135, Fis1, H_NH0132A01.6, TTC11 Yes No Comparative Toxicogenomics Database:51024, Ensembl:ENSG00000214253, GeneCard:FIS1, HGNC:HGNC:21689, ModBase:Q9Y3D6, NCBI Gene:51024, OMIM:609003, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_057152, RefSeq RNA:NM_016068, UniProtKB:Q9Y3D6 No chr7 100882893 100889009 101239612 101245090 +PA165478932 161247 HGNC:33714 ENSG00000139914 fat storage inducing transmembrane protein 1 FITM1 fat storage-inducing transmembrane protein 1, fat-inducing transcript 1 FIT1 Yes No Ensembl:ENSG00000139914, GeneCard:FITM1, HGNC:HGNC:33714, NCBI Gene:161247, OMIM:612028, RefSeq DNA:NT_026437, RefSeq Protein:NP_981947, RefSeq RNA:NM_203402, UniProtKB:A5D6W6 No chr14 24600675 24602058 24131466 24132849 +PA25685 128486 HGNC:16135 ENSG00000197296 fat storage inducing transmembrane protein 2 FITM2 fat inducing transcript 2, fat storage-inducing transmembrane protein 2 C20orf142, FIT2, dJ881L22.2 Yes No Ensembl:ENSG00000197296, GenAtlas:C20orf142, GeneCard:C20orf142, GeneCard:FITM2, HGNC:HGNC:16135, ModBase:Q8N6M3, NCBI Gene:128486, OMIM:612029, RefSeq DNA:NT_011362, RefSeq Protein:NP_001073941, RefSeq RNA:NM_001080472, RefSeq RNA:XM_371399, RefSeq RNA:XM_932895, RefSeq RNA:XM_940520, RefSeq RNA:XM_944622, UniProtKB:Q8N6M3 No chr20 42935197 42939889 44306557 44311249 +PA162388597 84922 HGNC:25917 ENSG00000179943 FLT3 interacting zinc finger 1 FIZ1 FLT3-interacting zinc finger 1 FLJ14768, ZNF798 Yes No Ensembl:ENSG00000179943, GeneCard:FIZ1, HGNC:HGNC:25917, ModBase:Q96SL8, NCBI Gene:84922, OMIM:609133, RefSeq DNA:NT_011109, RefSeq Protein:NP_116225, RefSeq RNA:NM_032836, UniProtKB:A2RU72, UniProtKB:Q96SL8 No chr19 56102737 56110893 55591371 55599703 +PA28151 24147 HGNC:17166 ENSG00000179431 four-jointed box kinase 1 FJX1 four jointed box 1 (Drosophila), putative secreted ligand homologous to fjx1 FLJ22416, FLJ25593 Yes No Comparative Toxicogenomics Database:24147, Ensembl:ENSG00000179431, GenAtlas:FJX1, GeneCard:FJX1, HGNC:HGNC:17166, HumanCyc Gene:HS11380, ModBase:Q86VR8, NCBI Gene:24147, OMIM:612206, RefSeq DNA:NT_009237, RefSeq Protein:NP_055159, RefSeq RNA:NM_014344, UCSC Genome Browser:NM_014344, UniProtKB:Q86VR8 No chr11 35639735 35642421 35618187 35620873 +PA28152 60681 HGNC:18169 ENSG00000141756 FKBP prolyl isomerase 10 FKBP10 """FK506 binding protein 10"", ""FK506 binding protein 10, 65 kDa""" FKBP6, FKBP65, FLJ20683, FLJ22041, FLJ23833, hFKBP65 Yes No Comparative Toxicogenomics Database:60681, Ensembl:ENSG00000141756, GenAtlas:FKBP10, GeneCard:FKBP10, HGNC:HGNC:18169, HumanCyc Gene:HS06870, ModBase:Q96AY3, NCBI Gene:60681, OMIM:601698, OMIM:607063, RefSeq DNA:NG_015860, RefSeq DNA:NT_010783, RefSeq Protein:NP_068758, RefSeq RNA:NM_021939, UCSC Genome Browser:NM_021939, UniProtKB:Q658U4, UniProtKB:Q8NAG5, UniProtKB:Q96AY3 No chr17 39968962 39979469 41812262 41823217 +PA38607 51303 HGNC:18624 ENSG00000134285 FKBP prolyl isomerase 11 FKBP11 """FK506 binding protein 11"", ""FK506 binding protein 11, 19 kDa""" FKBP19 Yes No Comparative Toxicogenomics Database:51303, Ensembl:ENSG00000134285, GenAtlas:FKBP11, GeneCard:FKBP11, HGNC:HGNC:18624, HumanCyc Gene:HS05851, ModBase:Q9NYL4, NCBI Gene:51303, OMIM:610571, RefSeq DNA:NT_029419, RefSeq Protein:NP_001137253, RefSeq Protein:NP_001137254, RefSeq Protein:NP_057678, RefSeq RNA:NM_001143781, RefSeq RNA:NM_001143782, RefSeq RNA:NM_016594, UCSC Genome Browser:NM_016594, UniProtKB:B4DWB7, UniProtKB:Q9NYL4 No chr12 49315742 49319330 48921959 48925547 +PA38608 55033 HGNC:18625 ENSG00000106080 FKBP prolyl isomerase 14 FKBP14 """FK506 binding protein 14"", ""FK506 binding protein 14, 22 kDa""" FKBP22, FLJ20731 Yes No Ensembl:ENSG00000106080, GenAtlas:FKBP14, GeneCard:FKBP14, HGNC:HGNC:18625, HumanCyc Gene:HS02860, ModBase:Q9NWM8, NCBI Gene:55033, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_060416, RefSeq RNA:NM_017946, UCSC Genome Browser:NM_017946, UniProtKB:Q9NWM8 No chr7 30050199 30066417 30010583 30026801 +PA162388608 23307 HGNC:23397 ENSG00000119321 FKBP prolyl isomerase family member 15 FKBP15 """FK506 binding protein 15"", ""FK506 binding protein 15, 133kDa"", ""FKBP prolyl isomerase 15"", ""WASP and FKBP-like protein"", ""protein phosphatase 1, regulatory subunit 76""" FKBP133, KIAA0674, PPP1R76, WAFL Yes No Ensembl:ENSG00000119321, GeneCard:FKBP15, HGNC:HGNC:23397, ModBase:Q5T1M5, NCBI Gene:23307, RefSeq DNA:NT_008470, RefSeq Protein:NP_056073, RefSeq RNA:NM_015258, UniProtKB:Q5T1M5 No chr9 115927800 115983641 113165036 113221361 +PA28153 2280 HGNC:3711 ENSG00000088832 FKBP prolyl isomerase 1A FKBP1A """FK506 binding protein 1A"", ""FK506 binding protein 1A, 12kDa"", ""calstabin 1""" FKBP-12, FKBP1, FKBP12, FKBP12C, PKC12, PPIASE Yes No Comparative Toxicogenomics Database:2280, Ensembl:ENSG00000088832, GenAtlas:FKBP1A, GeneCard:FKBP1A, HGNC:HGNC:3711, HumanCyc Gene:HS01611, ModBase:P62942, NCBI Gene:2280, OMIM:186945, RefSeq DNA:NT_011387, RefSeq Protein:NP_000792, RefSeq Protein:NP_001186715, RefSeq Protein:NP_463460, RefSeq RNA:NM_000801, RefSeq RNA:NM_001199786, RefSeq RNA:NM_054014, UCSC Genome Browser:NM_000801, UniProtKB:P62942, UniProtKB:Q0VDC6 No chr20 1349621 1373816 1368977 1393172 +PA28155 2282 HGNC:3714 ENSG00000269304 FK506 binding protein 1A, 12kDa pseudogene 1 FKBP1AP1 Yes No Ensembl:ENSG00000269304, GenAtlas:FKBP1P1, GeneCard:FKBP1AP1, HGNC:HGNC:3714, NCBI Gene:2282, RefSeq DNA:NG_006207, RefSeq DNA:NT_011109, RefSeq RNA:NR_024162, RefSeq RNA:XR_039546, RefSeq RNA:XR_039556, RefSeq RNA:XR_039675 No chr19 58336648 58338830 57825280 57827462 +PA28156 2283 HGNC:3715 ENSG00000259691 FK506 binding protein 1A, 12kDa pseudogene 2 FKBP1AP2 Yes No Ensembl:ENSG00000259691, GenAtlas:FKBP1P2, GeneCard:FKBP1AP2, HGNC:HGNC:3715, NCBI Gene:2283, RefSeq DNA:NG_008623, RefSeq DNA:NT_010194 No chr15 73434443 73435806 73142102 73143465 +PA28157 2284 HGNC:3716 ENSG00000230243 FK506 binding protein 1A, 12kDa pseudogene 3 FKBP1AP3 Yes No Ensembl:ENSG00000230243, GenAtlas:FKBP1P3, GeneCard:FKBP1AP3, HGNC:HGNC:3716, NCBI Gene:2284, RefSeq DNA:NG_006209, RefSeq DNA:NT_024524 No chr13 47079214 47082644 46505079 46508509 +PA28158 2285 HGNC:3717 ENSG00000282502 FK506 binding protein 1A, 12kDa pseudogene 4 FKBP1AP4 Yes No Ensembl:ENSG00000282502, GenAtlas:FKBP1P4, GeneCard:FKBP1AP4, HGNC:HGNC:3717, NCBI Gene:2285, RefSeq DNA:NG_006255, RefSeq DNA:NT_005612 No chr3 149180386 149182004 149462599 149464217 +PA28154 2281 HGNC:3712 ENSG00000119782 FKBP prolyl isomerase 1B FKBP1B """FK506 binding protein 1B"", ""FK506 binding protein 1B, 12.6 kDa"", ""calstabin 2""" FKBP12.6, FKBP1L, FKBP9, OTK4, PPIase Yes No Comparative Toxicogenomics Database:2281, Ensembl:ENSG00000119782, GenAtlas:FKBP1B, GeneCard:FKBP1B, HGNC:HGNC:3712, HumanCyc Gene:HS04340, ModBase:P68106, NCBI Gene:2281, OMIM:600620, RefSeq DNA:NT_022184, RefSeq Protein:NP_004107, RefSeq Protein:NP_473374, RefSeq RNA:NM_004116, RefSeq RNA:NM_054033, UCSC Genome Browser:NM_004116, UniProtKB:P68106 No chr2 24272584 24286551 24033205 24067743 +PA134974983 642489 HGNC:21376 ENSG00000198225 FKBP prolyl isomerase family member 1C FKBP1C FK506 binding protein 1C bA184C23.2 Yes No Ensembl:ENSG00000198225, GeneCard:FKBP1C, HGNC:HGNC:21376, NCBI Gene:642489, RefSeq DNA:NG_008622, RefSeq DNA:NT_007299 No chr6 63921352 63922927 63211447 63213022 +PA28159 2286 HGNC:3718 ENSG00000173486 FKBP prolyl isomerase 2 FKBP2 """FK506 binding protein 2"", ""FK506 binding protein 2 (13kD)"", ""FK506 binding protein 2, 13kDa"", ""peptidyl-prolyl cis-trans isomerase"", ""proline isomerase"", ""rapamycin-binding protein""" FKBP-13, FKBP13, PPIase Yes No Comparative Toxicogenomics Database:2286, Ensembl:ENSG00000173486, GenAtlas:FKBP2, GeneCard:FKBP2, HGNC:HGNC:3718, HumanCyc Gene:HS10674, ModBase:P26885, NCBI Gene:2286, OMIM:186946, RefSeq DNA:NT_167190, RefSeq Protein:NP_001128680, RefSeq Protein:NP_004461, RefSeq Protein:NP_476433, RefSeq RNA:NM_001135208, RefSeq RNA:NM_004470, RefSeq RNA:NM_057092, UCSC Genome Browser:NM_004470, UniProtKB:P26885, UniProtKB:Q53XJ5 No chr11 64008413 64011607 64240941 64244135 +PA28160 2287 HGNC:3719 ENSG00000100442 FKBP prolyl isomerase 3 FKBP3 """FK506 binding protein 3"", ""FK506 binding protein 3, 25kDa""" FKBP-25, FKBP25, PPIase Yes No Comparative Toxicogenomics Database:2287, Ensembl:ENSG00000100442, GenAtlas:FKBP3, GeneCard:FKBP3, HGNC:HGNC:3719, HumanCyc Gene:HS02087, ModBase:Q00688, NCBI Gene:2287, OMIM:186947, RefSeq DNA:NT_026437, RefSeq Protein:NP_002004, RefSeq RNA:NM_002013, UCSC Genome Browser:NM_002013, UniProtKB:Q00688 No chr14 45584802 45603732 45115599 45134529 +PA28161 2288 HGNC:3720 ENSG00000004478 FKBP prolyl isomerase 4 FKBP4 """FK506 binding protein 4"", ""FK506 binding protein 4, 59kDa""" FKBP52, FKBP59 Yes No Comparative Toxicogenomics Database:2288, Ensembl:ENSG00000004478, GenAtlas:FKBP4, GeneCard:FKBP4, HGNC:HGNC:3720, HumanCyc Gene:HS00105, ModBase:Q02790, NCBI Gene:2288, OMIM:600611, RefSeq DNA:NT_009759, RefSeq Protein:NP_002005, RefSeq RNA:NM_002014, UCSC Genome Browser:NM_002014, UniProtKB:Q02790 No chr12 2904108 2914589 2794942 2805423 +PA28162 2289 HGNC:3721 ENSG00000096060 FKBP prolyl isomerase 5 FKBP5 FK506 binding protein 5 FKBP51, FKBP54, P54, PPIase, Ptg-10 Yes Yes Comparative Toxicogenomics Database:2289, Ensembl:ENSG00000096060, GenAtlas:FKBP5, GeneCard:FKBP5, HGNC:HGNC:3721, HumanCyc Gene:HS01842, ModBase:Q13451, NCBI Gene:2289, OMIM:602623, OMIM:608516, RefSeq DNA:NG_012645, RefSeq DNA:NT_007592, RefSeq Protein:NP_001139247, RefSeq Protein:NP_001139248, RefSeq Protein:NP_001139249, RefSeq Protein:NP_004108, RefSeq RNA:NM_001145775, RefSeq RNA:NM_001145776, RefSeq RNA:NM_001145777, RefSeq RNA:NM_004117, UCSC Genome Browser:NM_004117, UniProtKB:Q13451, UniProtKB:Q2TA84, UniProtKB:Q59EB8, UniProtKB:Q5TGM6 No chr6 35541362 35696360 35573585 35728583 +PA28163 8468 HGNC:3722 ENSG00000077800 FKBP prolyl isomerase family member 6 (inactive) FKBP6 """FK506 binding protein 6"", ""FK506 binding protein 6 (36kD)"", ""FK506 binding protein 6, 36kDa"", ""FKBP prolyl isomerase 6"", ""immunophilin FKBP36"", ""peptidylprolyl cis-trans isomerase"", ""rotamase""" FKBP36, PPIase Yes No Ensembl:ENSG00000077800, GenAtlas:FKBP6, GeneCard:FKBP6, HGNC:HGNC:3722, HumanCyc Gene:HS01258, ModBase:O75344, NCBI Gene:8468, OMIM:604839, RefSeq DNA:NG_023242, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001128683, RefSeq Protein:NP_003593, RefSeq RNA:NM_001135211, RefSeq RNA:NM_003602, UCSC Genome Browser:NM_003602, UniProtKB:B4DXT7, UniProtKB:O75344 No chr7 72742155 72772646 73328152 73358637 +PA28164 51661 HGNC:3723 ENSG00000079150 FKBP prolyl isomerase 7 FKBP7 FK506 binding protein 7 FKBP23 Yes No Comparative Toxicogenomics Database:51661, Ensembl:ENSG00000079150, GenAtlas:FKBP7, GeneCard:FKBP7, HGNC:HGNC:3723, HumanCyc Gene:HS01313, ModBase:Q9Y680, NCBI Gene:51661, OMIM:607062, RefSeq DNA:NT_005403, RefSeq Protein:NP_001128684, RefSeq Protein:NP_851939, RefSeq RNA:NM_001135212, RefSeq RNA:NM_181342, UCSC Genome Browser:NM_016105, UniProtKB:Q4ZG70, UniProtKB:Q6V3B2, UniProtKB:Q9Y680 No chr2 179328391 179343646 178463664 178479878 +PA28165 23770 HGNC:3724 ENSG00000105701 FKBP prolyl isomerase 8 FKBP8 """FK506 binding protein 8"", ""FK506 binding protein 8, 38kDa"", ""FK506-binding protein 8 (38kD)""" FKBP38, FKBPr38 Yes No Comparative Toxicogenomics Database:23770, Ensembl:ENSG00000105701, GenAtlas:FKBP8, GeneCard:FKBP8, HGNC:HGNC:3724, HumanCyc Gene:HS02799, ModBase:Q14318, NCBI Gene:23770, OMIM:604840, RefSeq DNA:NT_011295, RefSeq Protein:NP_036313, RefSeq RNA:NM_012181, UCSC Genome Browser:NM_012181, UniProtKB:Q14318 No chr19 18642568 18654887 18531752 18544077 +PA28166 11328 HGNC:3725 ENSG00000122642 FKBP prolyl isomerase 9 FKBP9 """FK506 binding protein 9"", ""FK506 binding protein 9, 63 kDa""" FKBP60, FKBP63 Yes No Ensembl:ENSG00000122642, GenAtlas:FKBP9, GeneCard:FKBP9, HGNC:HGNC:3725, HumanCyc Gene:HS16731, ModBase:O95302, NCBI Gene:11328, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_009201, RefSeq RNA:NM_007270, UCSC Genome Browser:NM_007270, UniProtKB:A7YQ73, UniProtKB:O95302 No chr7 32997005 33046543 32957404 33006931 +PA28167 63943 HGNC:13949 ENSG00000204315, ENSG00000223666, ENSG00000230907 FKBP prolyl isomerase like FKBPL FK506 binding protein like, WAF-1/CIP1 stabilizing protein 39 DIR1, NG7, WISp39 Yes No Comparative Toxicogenomics Database:63943, Ensembl:ENSG00000204315, Ensembl:ENSG00000223666, Ensembl:ENSG00000230907, GenAtlas:FKBPL, GeneCard:FKBPL, HGNC:HGNC:13949, HumanCyc Gene:HS11228, ModBase:Q9UIM3, NCBI Gene:63943, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq Protein:NP_071393, RefSeq RNA:NM_022110, UCSC Genome Browser:NM_022110, UniProtKB:Q9UIM3 No chr6 32096484 32098067 32128707 32130290 +PA134976709 79147 HGNC:17997 ENSG00000181027 fukutin related protein FKRP Ribitol 5-phosphate transferase FKTR, LGMD2I, MDC1C Yes No Comparative Toxicogenomics Database:79147, Ensembl:ENSG00000181027, GeneCard:FKRP, HGNC:HGNC:17997, HumanCyc Gene:HS17614, ModBase:Q9H9S5, NCBI Gene:79147, OMIM:236670, OMIM:253280, OMIM:606596, OMIM:606612, OMIM:607155, RefSeq DNA:NG_008898, RefSeq DNA:NT_011109, RefSeq Protein:NP_001034974, RefSeq Protein:NP_077277, RefSeq RNA:NM_001039885, RefSeq RNA:NM_024301, UniProtKB:A8K5G7, UniProtKB:Q9H9S5 No chr19 47249303 47261832 46746015 46758575 +PA162388669 2218 HGNC:3622 ENSG00000106692 fukutin FKTN Ribitol-5-phosphate transferase FCMD, LGMD2M Yes No Ensembl:ENSG00000106692, GeneCard:FKTN, HGNC:HGNC:3622, HumanCyc Gene:HS02944, ModBase:O75072, NCBI Gene:2218, OMIM:236670, OMIM:253800, OMIM:607440, OMIM:611588, OMIM:611615, RefSeq DNA:NG_008754, RefSeq DNA:NT_008470, RefSeq Protein:NP_001073270, RefSeq Protein:NP_001185892, RefSeq Protein:NP_006722, RefSeq RNA:NM_001079802, RefSeq RNA:NM_001198963, RefSeq RNA:NM_006731, UniProtKB:O75072 No chr9 108320411 108403399 105558117 105655950 +PA24735 130540 HGNC:14439 ENSG00000155749 flagellum associated containing coiled-coil domains 1 FLACC1 """amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12"", ""amyotrophic lateral sclerosis 2 chromosome region 12""" ALS2CR12 Yes No Ensembl:ENSG00000155749, GenAtlas:ALS2CR12, GeneCard:ALS2CR12, HGNC:HGNC:14439, HumanCyc Gene:HS08065, NCBI Gene:130540, RefSeq DNA:NT_005403, RefSeq Protein:NP_001120863, RefSeq Protein:NP_631902, RefSeq RNA:NM_001127391, RefSeq RNA:NM_139163, UCSC Genome Browser:NM_139163, UniProtKB:Q8N1B6, UniProtKB:Q96Q35 No chr2 202153147 202222101 201288271 201357398 +PA142671759 80308 HGNC:24671 ENSG00000160688 flavin adenine dinucleotide synthetase 1 FLAD1 FAD-adenylyl transferase FAD1, PP591 Yes No Ensembl:ENSG00000160688, GeneCard:FLAD1, HGNC:HGNC:24671, HumanCyc Gene:HS08520, ModBase:Q8NFF5, NCBI Gene:80308, OMIM:610595, RefSeq DNA:NT_004487, RefSeq Protein:NP_001171820, RefSeq Protein:NP_001171821, RefSeq Protein:NP_079483, RefSeq Protein:NP_958800, RefSeq RNA:NM_001184891, RefSeq RNA:NM_001184892, RefSeq RNA:NM_025207, RefSeq RNA:NM_201398, UniProtKB:Q8NFF5 No chr1 154955770 154965587 154983294 154993111 +PA134901005 201163 HGNC:27310 ENSG00000154803 folliculin FLCN BHD, DENND8B, MGC17998, MGC23445 Yes No Comparative Toxicogenomics Database:201163, Ensembl:ENSG00000154803, GeneCard:FLCN, HGNC:HGNC:27310, ModBase:Q8NFG4, NCBI Gene:201163, OMIM:114500, OMIM:135150, OMIM:144700, OMIM:173600, OMIM:607273, RefSeq DNA:NG_008001, RefSeq DNA:NT_010718, RefSeq Protein:NP_653207, RefSeq Protein:NP_659434, RefSeq RNA:NM_144606, RefSeq RNA:NM_144997, UniProtKB:Q8NFG4 No chr17 17115523 17140502 17206945 17237188 +PA28169 2312 HGNC:3748 ENSG00000143631 filaggrin FLG FLG-1, FLG1 Yes No Comparative Toxicogenomics Database:2312, Ensembl:ENSG00000143631, GenAtlas:FLG, GeneCard:FLG, HGNC:HGNC:3748, ModBase:P20930, NCBI Gene:2312, OMIM:135940, OMIM:146700, OMIM:603165, OMIM:605803, RefSeq DNA:NG_016190, RefSeq DNA:NT_004487, RefSeq Protein:NP_002007, RefSeq RNA:NM_002016, UniProtKB:P20930 No chr1 152274651 152297679 152302175 152325203 +PA162388694 388698 HGNC:33276 ENSG00000143520 filaggrin 2 FLG2 filaggrin family member 2, ifapsoriasin IFPS Yes No Ensembl:ENSG00000143520, GeneCard:FLG2, HGNC:HGNC:33276, ModBase:Q5D862, NCBI Gene:388698, RefSeq DNA:NT_004487, RefSeq Protein:NP_001014364, RefSeq RNA:NM_001014342, UniProtKB:Q5D862 No chr1 152321213 152332482 152348735 152360028 +PA28170 2313 HGNC:3749 ENSG00000151702 Fli-1 proto-oncogene, ETS transcription factor FLI1 Friend leukemia virus integration 1 EWSR2, FLI-1, SIC-1 Yes No Comparative Toxicogenomics Database:2313, Ensembl:ENSG00000151702, GenAtlas:FLI1, GeneCard:FLI1, HGNC:HGNC:3749, HumanCyc Gene:HS07764, ModBase:Q01543, NCBI Gene:2313, OMIM:193067, RefSeq DNA:NT_033899, RefSeq Protein:NP_001161153, RefSeq Protein:NP_002008, RefSeq RNA:NM_001167681, RefSeq RNA:NM_002017, UCSC Genome Browser:NM_002017, UniProtKB:Q01543 No chr11 128556430 128683162 128685263 128813267 +PA28171 2314 HGNC:3750 ENSG00000177731 FLII actin remodeling protein FLII """FLII, actin remodeling protein"", ""flightless I homolog (Drosophila)""" FLI, FLIL, Fli1, MGC39265 Yes No Comparative Toxicogenomics Database:2314, Ensembl:ENSG00000177731, GenAtlas:FLII, GeneCard:FLII, HGNC:HGNC:3750, HumanCyc Gene:HS11210, ModBase:Q13045, NCBI Gene:2314, OMIM:600362, RefSeq DNA:NG_023243, RefSeq DNA:NT_010718, RefSeq Protein:NP_002009, RefSeq RNA:NM_002018, UCSC Genome Browser:NM_002018, UniProtKB:Q13045 No chr17 18148129 18162230 18244815 18258916 +PA128394716 79667 hypothetical protein FLJ13197 (non-HGNC gene) FLJ13197 Yes No NCBI Gene:79667, RefSeq DNA:NT_016297, RefSeq Protein:NP_078890, RefSeq RNA:NM_024614, RefSeq RNA:NR_026804, UCSC Genome Browser:NM_024614 No chr4 38614322 38666581 38612701 38664628 +PA28172 2316 HGNC:3754 ENSG00000196924 filamin A FLNA """actin binding protein 280"", ""alpha filamin"", ""filamin A, alpha""" ABP-280, FLN, FLN1, OPD1, OPD2 Yes No Comparative Toxicogenomics Database:2316, Ensembl:ENSG00000196924, GenAtlas:FLNA, GeneCard:FLNA, HGNC:HGNC:3754, ModBase:P21333, NCBI Gene:2316, OMIM:300017, OMIM:300048, OMIM:300049, OMIM:300321, OMIM:300537, OMIM:304120, OMIM:305620, OMIM:309350, OMIM:311300, RefSeq DNA:NG_011506, RefSeq DNA:NT_167198, RefSeq Protein:NP_001104026, RefSeq Protein:NP_001447, RefSeq RNA:NM_001110556, RefSeq RNA:NM_001456, UCSC Genome Browser:NM_001456, UniProtKB:P21333, UniProtKB:Q60FE5, UniProtKB:Q6NXF2 No chrX 153576900 153603006 154348529 154374638 +PA28173 2317 HGNC:3755 ENSG00000136068 filamin B FLNB """actin binding protein 278"", ""beta filamin"", ""filamin B, beta""" ABP-278, FH1, FLN1L, LRS1, TABP, TAP Yes No Comparative Toxicogenomics Database:2317, Ensembl:ENSG00000136068, GenAtlas:FLNB, GeneCard:FLNB, HGNC:HGNC:3755, HumanCyc Gene:HS06110, ModBase:Q9NRB5, NCBI Gene:2317, OMIM:108720, OMIM:108721, OMIM:112310, OMIM:150250, OMIM:272460, OMIM:603381, RefSeq DNA:NG_012801, RefSeq DNA:NT_022517, RefSeq Protein:NP_001157789, RefSeq Protein:NP_001157790, RefSeq Protein:NP_001157791, RefSeq Protein:NP_001448, RefSeq RNA:NM_001164317, RefSeq RNA:NM_001164318, RefSeq RNA:NM_001164319, RefSeq RNA:NM_001457, UCSC Genome Browser:NM_001457, UniProtKB:B2ZZ83, UniProtKB:O75369, UniProtKB:Q60FE7 No chr3 57994127 58157982 58008400 58172255 +PA28174 2318 HGNC:3756 ENSG00000128591 filamin C FLNC """actin binding protein 280"", ""filamin C, gamma"", ""gamma filamin""" ABP-280, ABPL, FLN2 Yes No Comparative Toxicogenomics Database:2318, Ensembl:ENSG00000128591, GenAtlas:FLNC, GeneCard:FLNC, HGNC:HGNC:3756, HumanCyc Gene:HS05200, ModBase:Q14315, NCBI Gene:2318, OMIM:102565, OMIM:609524, RefSeq DNA:NG_011807, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001120959, RefSeq Protein:NP_001449, RefSeq RNA:NM_001127487, RefSeq RNA:NM_001458, UCSC Genome Browser:NM_001458, UniProtKB:Q14315, UniProtKB:Q59H94 No chr7 128470436 128499328 128830429 128859274 +PA28175 10211 HGNC:3757 ENSG00000137312, ENSG00000206379, ENSG00000206480, ENSG00000230143, ENSG00000232280 flotillin 1 FLOT1 Yes Yes Comparative Toxicogenomics Database:10211, Ensembl:ENSG00000137312, Ensembl:ENSG00000206379, Ensembl:ENSG00000206480, Ensembl:ENSG00000230143, Ensembl:ENSG00000232280, GenAtlas:FLOT1, GeneCard:FLOT1, HGNC:HGNC:3757, HumanCyc Gene:HS06309, ModBase:O75955, NCBI Gene:10211, OMIM:606998, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_005794, RefSeq RNA:NM_005803, UCSC Genome Browser:NM_005803, UniProtKB:O75955, UniProtKB:Q5ST80 No chr6 30695506 30710687 30727709 30742851 +PA28176 2319 HGNC:3758 ENSG00000132589 flotillin 2 FLOT2 """Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)""" ECS-1, ECS1, ESA, ESA1, M17S1 Yes No Comparative Toxicogenomics Database:2319, Ensembl:ENSG00000132589, GenAtlas:FLOT2, GeneCard:FLOT2, HGNC:HGNC:3758, HumanCyc Gene:HS05658, ModBase:Q14254, NCBI Gene:2319, OMIM:131560, RefSeq DNA:NT_010799, RefSeq Protein:NP_004466, RefSeq RNA:NM_004475, UCSC Genome Browser:NM_004475, UniProtKB:Q14254, UniProtKB:Q9BTI6 No chr17 27206356 27224715 28879339 28897728 +PA28177 23769 HGNC:3760 ENSG00000126500 fibronectin leucine rich transmembrane protein 1 FLRT1 MGC21624, SPG68 Yes No Comparative Toxicogenomics Database:23769, Ensembl:ENSG00000126500, GenAtlas:FLRT1, GeneCard:FLRT1, HGNC:HGNC:3760, HumanCyc Gene:HS05024, NCBI Gene:23769, OMIM:604806, RefSeq DNA:NT_167190, RefSeq Protein:NP_037412, RefSeq RNA:NM_013280, UCSC Genome Browser:NM_013280, UniProtKB:Q9NZU1 No chr11 63803442 63886655 64035970 64119183 +PA28178 23768 HGNC:3761 ENSG00000185070 fibronectin leucine rich transmembrane protein 2 FLRT2 Yes No Comparative Toxicogenomics Database:23768, Ensembl:ENSG00000185070, GenAtlas:FLRT2, GeneCard:FLRT2, HGNC:HGNC:3761, ModBase:O43155, NCBI Gene:23768, OMIM:604807, RefSeq DNA:NT_026437, RefSeq Protein:NP_037363, RefSeq RNA:NM_013231, UCSC Genome Browser:NM_013231, UniProtKB:B3KPR2, UniProtKB:O43155 No chr14 85996411 86095040 85530067 85628696 +PA28179 23767 HGNC:3762 ENSG00000125848 fibronectin leucine rich transmembrane protein 3 FLRT3 Yes No Comparative Toxicogenomics Database:23767, Ensembl:ENSG00000125848, GenAtlas:FLRT3, GeneCard:FLRT3, HGNC:HGNC:3762, HumanCyc Gene:HS04955, ModBase:Q9NZU0, NCBI Gene:23767, OMIM:604808, RefSeq DNA:NT_011387, RefSeq Protein:NP_037413, RefSeq Protein:NP_938205, RefSeq RNA:NM_013281, RefSeq RNA:NM_198391, UCSC Genome Browser:NM_013281, UniProtKB:Q8NC95, UniProtKB:Q9NZU0 No chr20 14304639 14318313 14322985 14337847 +PA28180 2321 HGNC:3763 ENSG00000102755 fms related receptor tyrosine kinase 1 FLT1 fms related tyrosine kinase 1, fms-related tyrosine kinase 1, vascular endothelial growth factor receptor 1, vascular permeability factor receptor FLT, VEGFR1 Yes Yes Comparative Toxicogenomics Database:2321, Ensembl:ENSG00000102755, GenAtlas:FLT1, GeneCard:FLT1, HGNC:HGNC:3763, HumanCyc Gene:HS02408, ModBase:P17948, NCBI Gene:2321, OMIM:165070, RefSeq DNA:NG_012003, RefSeq DNA:NT_024524, RefSeq Protein:NP_001153392, RefSeq Protein:NP_001153502, RefSeq Protein:NP_001153503, RefSeq Protein:NP_002010, RefSeq RNA:NM_001159920, RefSeq RNA:NM_001160030, RefSeq RNA:NM_001160031, RefSeq RNA:NM_002019, UCSC Genome Browser:NM_002019, UniProtKB:B0LPF1, UniProtKB:B3FR89, UniProtKB:B5A923, UniProtKB:P17948 No chr13 28874483 29069265 28300346 28495128 +PA28181 2322 HGNC:3765 ENSG00000122025 fms related receptor tyrosine kinase 3 FLT3 fms related tyrosine kinase 3, fms-related tyrosine kinase 3 CD135, FLK2, STK1 Yes Yes Comparative Toxicogenomics Database:2322, Ensembl:ENSG00000122025, GenAtlas:FLT3, GeneCard:FLT3, HGNC:HGNC:3765, HumanCyc Gene:HS04540, ModBase:P36888, NCBI Gene:2322, OMIM:136351, OMIM:601626, RefSeq DNA:NG_007066, RefSeq DNA:NT_024524, RefSeq Protein:NP_004110, RefSeq RNA:NM_004119, UCSC Genome Browser:NM_004119, UniProtKB:P36888 No chr13 28577411 28682904 28003274 28100592 +PA28182 2323 HGNC:3766 ENSG00000090554 fms related receptor tyrosine kinase 3 ligand FLT3LG fms related tyrosine kinase 3 ligand, fms-related tyrosine kinase 3 ligand Yes No Comparative Toxicogenomics Database:2323, Ensembl:ENSG00000090554, GenAtlas:FLT3LG, GeneCard:FLT3LG, HGNC:HGNC:3766, HumanCyc Gene:HS01696, ModBase:P49771, NCBI Gene:2323, OMIM:600007, RefSeq DNA:NT_011109, RefSeq Protein:NP_001191431, RefSeq Protein:NP_001191432, RefSeq Protein:NP_001450, RefSeq RNA:NM_001204502, RefSeq RNA:NM_001204503, RefSeq RNA:NM_001459, UCSC Genome Browser:NM_001459, UniProtKB:P49771, UniProtKB:Q05C96 No chr19 49977455 49989491 49474172 49487038 +PA28183 2324 HGNC:3767 ENSG00000037280 fms related receptor tyrosine kinase 4 FLT4 Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4, VEGF receptor-3, fms related tyrosine kinase 4, fms-related tyrosine kinase 4, primary congenital lymphedema, vascular endothelial growth factor receptor 3 PCL, VEGFR-3, VEGFR3 Yes Yes Comparative Toxicogenomics Database:2324, Ensembl:ENSG00000037280, GenAtlas:FLT4, GeneCard:FLT4, HGNC:HGNC:3767, HumanCyc Gene:HS00523, ModBase:P35916, NCBI Gene:2324, OMIM:136352, OMIM:153100, OMIM:602089, RefSeq DNA:NG_011536, RefSeq DNA:NT_023133, RefSeq Protein:NP_002011, RefSeq Protein:NP_891555, RefSeq RNA:NM_002020, RefSeq RNA:NM_182925, UCSC Genome Browser:NM_002020, UniProtKB:P35916, UniProtKB:Q86W07, UniProtKB:Q86W08 No chr5 180028506 180076624 180601506 180650298 +PA162388695 28982 HGNC:24682 ENSG00000162769 FLVCR choline and heme transporter 1 FLVCR1 feline leukemia virus subgroup C cellular receptor 1 AXPC1, FLVCR, MFSD7B, PCA, SLC49A1 Yes No Ensembl:ENSG00000162769, GeneCard:FLVCR1, HGNC:HGNC:24682, HumanCyc Gene:HS08738, ModBase:Q9Y5Y0, NCBI Gene:28982, OMIM:609144, RefSeq DNA:NT_167186, RefSeq Protein:NP_054772, RefSeq RNA:NM_014053, UniProtKB:B2RB38, UniProtKB:Q9Y5Y0 No chr1 213031597 213072705 212858255 212899363 +PA162388720 55640 HGNC:20105 ENSG00000119686 FLVCR choline and putative heme transporter 2 FLVCR2 """feline leukemia virus subgroup C cellular receptor family member 2"", ""feline leukemia virus subgroup C cellular receptor family, member 2""" C14orf58, CCT, FLJ20371, MFSD7C, SLC49A2 Yes No Ensembl:ENSG00000119686, GeneCard:FLVCR2, HGNC:HGNC:20105, HumanCyc Gene:HS12951, ModBase:Q9UPI3, NCBI Gene:55640, OMIM:225790, OMIM:610865, RefSeq DNA:NT_026437, RefSeq Protein:NP_001182212, RefSeq Protein:NP_060261, RefSeq RNA:NM_001195283, RefSeq RNA:NM_017791, UniProtKB:Q9UPI3 No chr14 76044940 76114512 75578597 75648169 +PA142671760 84256 HGNC:25404 ENSG00000059122 FLYWCH-type zinc finger 1 FLYWCH1 DKFZp761A132 Yes No Comparative Toxicogenomics Database:84256, Ensembl:ENSG00000059122, GeneCard:FLYWCH1, HGNC:HGNC:25404, HumanCyc Gene:HS12151, NCBI Gene:84256, RefSeq DNA:NT_010393, RefSeq Protein:NP_065963, RefSeq Protein:NP_115672, RefSeq RNA:NM_020912, RefSeq RNA:NM_032296, UniProtKB:Q4VC44 No chr16 2961943 3001209 2911873 2951208 +PA166351804 HGNC:31915 FLYWCH-type zinc finger 1-like FLYWCH1L1 Yes No HGNC:HGNC:31915 No 0 0 0 0 +PA162388745 114984 HGNC:25178 ENSG00000162076 FLYWCH family member 2 FLYWCH2 Yes No Ensembl:ENSG00000162076, GeneCard:FLYWCH2, HGNC:HGNC:25178, ModBase:Q96CP2, NCBI Gene:114984, RefSeq DNA:NT_010393, RefSeq Protein:NP_001135971, RefSeq Protein:NP_001135972, RefSeq Protein:NP_612448, RefSeq RNA:NM_001142499, RefSeq RNA:NM_001142500, RefSeq RNA:NM_138439, UniProtKB:Q96CP2 No chr16 2932924 2949383 2882891 2899382 +PA164717374 154791 HGNC:26946 ENSG00000164898 formation of mitochondrial complex V assembly factor 1 homolog FMC1 chromosome 7 open reading frame 55, formation of mitochondrial complexes 1 homolog (S. cerevisiae) C7orf55, FMC1, HSPC268 Yes No Ensembl:ENSG00000164898, GeneCard:C7orf55, HGNC:HGNC:26946, NCBI Gene:154791, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_932068, RefSeq RNA:NM_197964, UniProtKB:Q96HJ9 No chr7 139025196 139031065 139340450 139346319 +PA28184 342184 HGNC:3768 ENSG00000248905 formin 1 FMN1 limb deformity protein DKFZP686C2281, FLJ45135, FMN, LD, MGC125288, MGC125289 Yes No Comparative Toxicogenomics Database:342184, Ensembl:ENSG00000248905, GenAtlas:FMN1, GeneCard:FMN1, HGNC:HGNC:3768, NCBI Gene:342184, OMIM:136535, RefSeq DNA:NT_010194, RefSeq Protein:NP_001096654, RefSeq Protein:XP_003403502, RefSeq RNA:NM_001103184, RefSeq RNA:XM_003403454, UniProtKB:C9IYD7 No chr15 33057745 33486934 32765544 33194765 +PA28185 56776 HGNC:14074 ENSG00000155816 formin 2 FMN2 Yes No Ensembl:ENSG00000155816, GenAtlas:FMN2, GeneCard:FMN2, HGNC:HGNC:14074, HumanCyc Gene:HS08068, NCBI Gene:56776, OMIM:606373, RefSeq DNA:NT_167186, RefSeq Protein:NP_064450, RefSeq RNA:NM_020066, UniProtKB:Q9NZ56 No chr1 240255185 240638491 240013776 240475189 +PA28186 752 HGNC:1212 ENSG00000184922 formin like 1 FMNL1 formin-like 1 C17orf1, C17orf1B, FMNL Yes No Comparative Toxicogenomics Database:752, Ensembl:ENSG00000184922, GenAtlas:FMNL1, GeneCard:FMNL1, HGNC:HGNC:1212, ModBase:O95466, NCBI Gene:752, OMIM:604656, RefSeq DNA:NT_010783, RefSeq Protein:NP_005883, RefSeq RNA:NM_005892, UCSC Genome Browser:NM_005892, UniProtKB:O95466 No chr17 43299192 43324685 45221728 45247322 +PA28144 114793 HGNC:18267 ENSG00000157827 formin like 2 FMNL2 formin-like 2 FHOD2, KIAA1902 Yes No Comparative Toxicogenomics Database:114793, Ensembl:ENSG00000157827, GenAtlas:FMNL2, GeneCard:FMNL2, HGNC:HGNC:18267, HumanCyc Gene:HS08243, NCBI Gene:114793, RefSeq DNA:NT_005403, RefSeq Protein:NP_443137, RefSeq RNA:NM_052905, UniProtKB:Q96PY5 No chr2 153191684 153506348 152335170 152649834 +PA134992328 91010 HGNC:23698 ENSG00000161791 formin like 3 FMNL3 formin-like 3 DKFZp762B245, MGC45819, WBP3 Yes No Comparative Toxicogenomics Database:91010, Ensembl:ENSG00000161791, GeneCard:FMNL3, HGNC:HGNC:23698, NCBI Gene:91010, RefSeq DNA:NT_029419, RefSeq Protein:NP_783863, RefSeq Protein:NP_944489, RefSeq RNA:NM_175736, RefSeq RNA:NM_198900, UniProtKB:Q8IVF7 No chr12 50031724 50101197 49636499 49707414 +PA165 2326 HGNC:3769 ENSG00000010932 flavin containing dimethylaniline monoxygenase 1 FMO1 flavin containing monooxygenase 1 Yes Yes Comparative Toxicogenomics Database:2326, Ensembl:ENSG00000010932, GenAtlas:FMO1, GeneCard:FMO1, HGNC:HGNC:3769, HumanCyc Gene:HS00295, ModBase:Q01740, NCBI Gene:2326, OMIM:136130, RefSeq DNA:NT_004487, RefSeq Protein:NP_002012, RefSeq RNA:NM_002021, UCSC Genome Browser:NM_002021, UniProtKB:Q01740 No chr1 171217610 171255113 171248471 171285978 +PA164720077 100337590 HGNC:32212 ENSG00000232148 flavin containing monooxygenase 11, pseudogene FMO11P Yes No Ensembl:ENSG00000232148, HGNC:HGNC:32212, NCBI Gene:100337590 No chr1 166736807 166762004 166767570 166792767 +PA164741534 2327 HGNC:3770 ENSG00000094963 flavin containing dimethylaniline monoxygenase 2 FMO2 Dimethylaniline monooxygenase [N-oxide-forming] 2, flavin containing monooxygenase 2, flavin containing monooxygenase 2 (non-functional) Yes Yes Ensembl:ENSG00000094963, GeneCard:FMO2, HGNC:HGNC:3770, HumanCyc Gene:HS01807, ModBase:Q99518, NCBI Gene:2327, OMIM:603955, RefSeq DNA:NT_004487, RefSeq Protein:NP_001451, RefSeq RNA:NM_001460, UniProtKB:Q5JPC7, UniProtKB:Q86U73, UniProtKB:Q99518 No chr1 171154388 171181822 171185208 171212683 +PA166 2328 HGNC:3771 ENSG00000007933 flavin containing dimethylaniline monoxygenase 3 FMO3 Dimethylaniline monooxygenase [N-oxide-forming] 3, flavin containing monooxygenase 3 FMOII Yes Yes Comparative Toxicogenomics Database:2328, Ensembl:ENSG00000007933, GenAtlas:FMO3, GeneCard:FMO3, HGNC:HGNC:3771, HumanCyc Gene:HS00223, ModBase:P31513, NCBI Gene:2328, OMIM:136132, OMIM:602079, RefSeq DNA:NG_012690, RefSeq DNA:NT_004487, RefSeq Protein:NP_001002294, RefSeq Protein:NP_008825, RefSeq RNA:NM_001002294, RefSeq RNA:NM_006894, UCSC Genome Browser:NM_006894, UniProtKB:P31513, UniProtKB:Q53FW5 No chr1 171060018 171086961 171090873 171117819 +PA28188 2329 HGNC:3772 ENSG00000076258 flavin containing dimethylaniline monoxygenase 4 FMO4 flavin containing monooxygenase 4 FMO2 Yes No Ensembl:ENSG00000076258, GenAtlas:FMO4, GeneCard:FMO4, HGNC:HGNC:3772, HumanCyc Gene:HS01205, ModBase:P31512, NCBI Gene:2329, OMIM:136131, RefSeq DNA:NT_004487, RefSeq Protein:NP_002013, RefSeq RNA:NM_002022, UCSC Genome Browser:NM_002022, UniProtKB:P31512 No chr1 171283318 171311223 171314131 171342084 +PA28189 2330 HGNC:3773 ENSG00000131781 flavin containing dimethylaniline monoxygenase 5 FMO5 flavin containing monooxygenase 5 Yes Yes Comparative Toxicogenomics Database:2330, Ensembl:ENSG00000131781, GenAtlas:FMO5, GeneCard:FMO5, HGNC:HGNC:3773, HumanCyc Gene:HS05567, ModBase:P49326, NCBI Gene:2330, OMIM:603957, RefSeq DNA:NT_167185, RefSeq Protein:NP_001138301, RefSeq Protein:NP_001138302, RefSeq Protein:NP_001452, RefSeq RNA:NM_001144829, RefSeq RNA:NM_001144830, RefSeq RNA:NM_001461, UCSC Genome Browser:NM_001461, UniProtKB:C9JJD1, UniProtKB:P49326, UniProtKB:Q53H53, UniProtKB:Q8IV22, UniProtKB:Q9HA79 No chr1 146655884 146697390 147183963 147225798 +PA142671753 388714 HGNC:24024 ENSG00000117507 flavin containing monooxygenase 6 pseudogene FMO6P Yes No Ensembl:ENSG00000117507, HGNC:HGNC:24024, ModBase:O60774, NCBI Gene:388714, RefSeq RNA:NR_002601, UniProtKB:O60774 No chr1 171106879 171130702 171137740 171161563 +PA164720078 100337589 HGNC:32208 ENSG00000230231 flavin containing monooxygenase 7 pseudogene FMO7P Yes No Ensembl:ENSG00000230231, HGNC:HGNC:32208, NCBI Gene:100337589 No chr1 166443982 166450802 166474745 166481565 +PA142671754 116123 HGNC:32210 ENSG00000215834 flavin containing monooxygenase 9 pseudogene FMO9P RP11-45J16.2 Yes No Ensembl:ENSG00000215834, GeneCard:FMO9P, HGNC:HGNC:32210, HumanCyc Gene:HS06993, NCBI Gene:116123, RefSeq DNA:NT_004487, RefSeq RNA:NR_002925 No chr1 166573153 166594475 166603916 166625238 +PA28190 2331 HGNC:3774 ENSG00000122176 fibromodulin FMOD fibromodulin proteoglycan SLRR2E Yes No Comparative Toxicogenomics Database:2331, Ensembl:ENSG00000122176, GenAtlas:FMOD, GeneCard:FMOD, HGNC:HGNC:3774, HumanCyc Gene:HS04551, ModBase:Q06828, NCBI Gene:2331, OMIM:600245, RefSeq DNA:NT_004487, RefSeq Protein:NP_002014, RefSeq RNA:NM_002023, UCSC Genome Browser:NM_002023, UniProtKB:Q06828, UniProtKB:Q12833 No chr1 203309749 203320557 203340621 203351429 +PA28191 2332 HGNC:3775 ENSG00000102081 fragile X messenger ribonucleoprotein 1 FMR1 fragile X mental retardation 1 FMRP, FRAXA, MGC87458, POF, POF1 Yes No Comparative Toxicogenomics Database:2332, Ensembl:ENSG00000102081, GenAtlas:FMR1, GeneCard:FMR1, HGNC:HGNC:3775, HumanCyc Gene:HS02349, ModBase:Q06787, NCBI Gene:2332, OMIM:300623, OMIM:300624, OMIM:309550, OMIM:311360, RefSeq DNA:NG_007529, RefSeq DNA:NT_011681, RefSeq Protein:NP_001172004, RefSeq Protein:NP_001172005, RefSeq Protein:NP_001172010, RefSeq Protein:NP_001172011, RefSeq Protein:NP_002015, RefSeq RNA:NM_001185075, RefSeq RNA:NM_001185076, RefSeq RNA:NM_001185081, RefSeq RNA:NM_001185082, RefSeq RNA:NM_002024, RefSeq RNA:NR_033699, RefSeq RNA:NR_033700, UCSC Genome Browser:NM_002024, UniProtKB:Q06787 No chrX 146993469 147032647 147911951 147951127 +PA134927784 158521 HGNC:26372 ENSG00000176988 FMR1 neighbor FMR1NB cancer/testis antigen 37, fragile X mental retardation 1 neighbor CT37, FLJ25736, NY-SAR-35 Yes No Ensembl:ENSG00000176988, GeneCard:FMR1NB, HGNC:HGNC:26372, HumanCyc Gene:HS16768, NCBI Gene:158521, RefSeq DNA:NG_016349, RefSeq DNA:NT_011681, RefSeq Protein:NP_689791, RefSeq RNA:NM_152578, UniProtKB:Q8N0W7 No chrX 147062849 147108187 147981329 148026667 +PA28194 2335 HGNC:3778 ENSG00000115414 fibronectin 1 FN1 cold-insoluble globulin, migration-stimulating factor CIG, FINC, GFND2, LETS, MSF, lnc-ABCA12-8 Yes No Comparative Toxicogenomics Database:2335, Ensembl:ENSG00000115414, GenAtlas:FN1, GeneCard:FN1, HGNC:HGNC:3778, HumanCyc Gene:HS11424, ModBase:Q9UMK2, NCBI Gene:2335, OMIM:135600, OMIM:601894, RefSeq DNA:NG_012196, RefSeq DNA:NT_005403, RefSeq Protein:NP_002017, RefSeq Protein:NP_473375, RefSeq Protein:NP_997639, RefSeq Protein:NP_997640, RefSeq Protein:NP_997641, RefSeq Protein:NP_997643, RefSeq Protein:NP_997647, RefSeq RNA:NM_002026, RefSeq RNA:NM_054034, RefSeq RNA:NM_212474, RefSeq RNA:NM_212475, RefSeq RNA:NM_212476, RefSeq RNA:NM_212478, RefSeq RNA:NM_212482, UCSC Genome Browser:NM_002026, UniProtKB:P02751, UniProtKB:Q6MZF4, UniProtKB:Q6MZM7, UniProtKB:Q6N084, UniProtKB:Q9UQS6 No chr2 216225177 216300890 215360440 215436167 +PA134870460 64122 HGNC:24822 ENSG00000167363 fructosamine 3 kinase FN3K protein-ribulosamine 3-kinase Yes No Comparative Toxicogenomics Database:64122, Ensembl:ENSG00000167363, GeneCard:FN3K, HGNC:HGNC:24822, HumanCyc Gene:HS09549, ModBase:Q9H479, NCBI Gene:64122, OMIM:608425, RefSeq DNA:NT_010663, RefSeq Protein:NP_071441, RefSeq RNA:NM_022158, UniProtKB:Q9H479 No chr17 80693452 80709073 82735576 82751197 +PA164720079 79672 HGNC:25700 ENSG00000141560 fructosamine 3 kinase related protein FN3KRP ketosamine-3-kinase, protein-ribulosamine 3-kinase FLJ12171, FN3KL Yes No Ensembl:ENSG00000141560, GeneCard:FN3KRP, HGNC:HGNC:25700, HumanCyc Gene:HS06850, NCBI Gene:79672, OMIM:611683, RefSeq DNA:NT_010663, RefSeq Protein:NP_078895, RefSeq RNA:NM_024619, UniProtKB:Q9HA64 No chr17 80674582 80685893 82716706 82728017 +PA128394597 23048 HGNC:17069 ENSG00000187239 formin binding protein 1 FNBP1 FBP17, KIAA0554 Yes No Comparative Toxicogenomics Database:23048, Ensembl:ENSG00000187239, GeneCard:FNBP1, HGNC:HGNC:17069, HumanCyc Gene:HS12355, ModBase:Q9NWD1, NCBI Gene:23048, OMIM:606191, RefSeq DNA:NT_008470, RefSeq Protein:NP_055848, RefSeq RNA:NM_015033, UniProtKB:Q96RU3 No chr9 132649458 132805473 129887187 130053846 +PA128394675 54874 HGNC:20851 ENSG00000137942 formin binding protein 1 like FNBP1L formin binding protein 1-like C1orf39, FLJ20275, TOCA1 Yes No Comparative Toxicogenomics Database:54874, Ensembl:ENSG00000137942, GeneCard:FNBP1L, HGNC:HGNC:20851, HumanCyc Gene:HS13703, NCBI Gene:54874, OMIM:608848, RefSeq DNA:NT_032977, RefSeq Protein:NP_001020119, RefSeq Protein:NP_001157945, RefSeq Protein:NP_060207, RefSeq RNA:NM_001024948, RefSeq RNA:NM_001164473, RefSeq RNA:NM_017737, UCSC Genome Browser:NM_017737, UniProtKB:B4DSI7, UniProtKB:Q5T0N5 No chr1 93913688 94020218 93448067 93569671 +PA134971679 23360 HGNC:19752 ENSG00000109920 formin binding protein 4 FNBP4 KIAA1014 Yes No Comparative Toxicogenomics Database:23360, Ensembl:ENSG00000109920, GeneCard:FNBP4, HGNC:HGNC:19752, HumanCyc Gene:HS03269, NCBI Gene:23360, RefSeq DNA:NT_009237, RefSeq Protein:NP_056123, RefSeq RNA:NM_015308, UniProtKB:B3KNP0, UniProtKB:Q8N3X1 No chr11 47738055 47789012 47716510 47767478 +PA134906656 84624 HGNC:21184 ENSG00000164694 fibronectin type III domain containing 1 FNDC1 FNDC2, KIAA1866, bA243O10.1, dJ322A24.1 Yes No Ensembl:ENSG00000164694, GeneCard:FNDC1, HGNC:HGNC:21184, NCBI Gene:84624, OMIM:609991, RefSeq DNA:NT_025741, RefSeq Protein:NP_115921, RefSeq RNA:NM_032532, UniProtKB:Q4ZHG4 No chr6 159590429 159693140 159169397 159272108 +PA166049087 643988 HGNC:42951 ENSG00000228594 fibronectin type III domain containing 10 FNDC10 chromosome 1 open reading frame 233 C1orf233 Yes No Ensembl:ENSG00000228594, HGNC:HGNC:42951, NCBI Gene:643988 No chr1 1533388 1535476 1598008 1600096 +PA142672215 79025 HGNC:28764 ENSG00000125531 fibronectin type III domain containing 11 FNDC11 chromosome 20 open reading frame 195 C20orf195, MGC5356 Yes No Ensembl:ENSG00000125531, GeneCard:C20orf195, HGNC:HGNC:28764, HumanCyc Gene:HS13165, ModBase:Q9BVV2, NCBI Gene:79025, RefSeq DNA:NT_011333, RefSeq Protein:NP_076964, RefSeq RNA:NM_024059, UniProtKB:Q9BVV2 No chr20 62184373 62188061 63553020 63556712 +PA128394588 22862 HGNC:20296 ENSG00000102531 fibronectin type III domain containing 3A FNDC3A FNDC3, KIAA0970, bA203I16.5 Yes No Comparative Toxicogenomics Database:22862, Ensembl:ENSG00000102531, GeneCard:FNDC3A, HGNC:HGNC:20296, HumanCyc Gene:HS12488, ModBase:Q9Y2H6, NCBI Gene:22862, RefSeq DNA:NT_024524, RefSeq Protein:NP_001073141, RefSeq Protein:NP_055738, RefSeq RNA:NM_001079673, RefSeq RNA:NM_014923, UniProtKB:Q9Y2H6 No chr13 49550048 49783915 48975241 49209779 +PA134936830 64778 HGNC:24670 ENSG00000075420 fibronectin type III domain containing 3B FNDC3B DKFZp762K137, FAD104, FLJ23399, PRO4979, YVTM2421 Yes No Comparative Toxicogenomics Database:64778, Ensembl:ENSG00000075420, GeneCard:FNDC3B, HGNC:HGNC:24670, HumanCyc Gene:HS12237, ModBase:Q96D78, NCBI Gene:64778, OMIM:611909, RefSeq DNA:NT_005612, RefSeq Protein:NP_001128567, RefSeq Protein:NP_073600, RefSeq RNA:NM_001135095, RefSeq RNA:NM_022763, UniProtKB:Q53EP0 No chr3 171757418 172118493 172039628 172400703 +PA165756644 100421340 HGNC:35452 ENSG00000223592 fibronectin type III domain containing 3C, pseudogene FNDC3CP Yes No Ensembl:ENSG00000223592, HGNC:HGNC:35452, NCBI Gene:100421340 No chrX 77421193 77425634 78165696 78170137 +PA134883376 64838 HGNC:20239 ENSG00000115226 fibronectin type III domain containing 4 FNDC4 FLJ22362, FRCP1 Yes No Comparative Toxicogenomics Database:64838, Ensembl:ENSG00000115226, GeneCard:FNDC4, HGNC:HGNC:20239, HumanCyc Gene:HS12834, ModBase:Q9H6D8, NCBI Gene:64838, OMIM:611905, RefSeq DNA:NT_022184, RefSeq Protein:NP_073734, RefSeq RNA:NM_022823, UniProtKB:Q9H6D8 No chr2 27714750 27718126 27491883 27495303 +PA134924607 252995 HGNC:20240 ENSG00000160097 fibronectin type III domain containing 5 FNDC5 irisin FRCP2 Yes No Ensembl:ENSG00000160097, GeneCard:FNDC5, HGNC:HGNC:20240, HumanCyc Gene:HS14794, NCBI Gene:252995, OMIM:611906, RefSeq DNA:NT_032977, RefSeq Protein:NP_001165411, RefSeq Protein:NP_001165412, RefSeq Protein:NP_715637, RefSeq RNA:NM_001171940, RefSeq RNA:NM_001171941, RefSeq RNA:NM_153756, UniProtKB:Q8NAU1 No chr1 33327869 33338093 32862268 32872492 +PA142671756 163479 HGNC:26668 ENSG00000143107 fibronectin type III domain containing 7 FNDC7 FLJ35838 Yes No Comparative Toxicogenomics Database:163479, Ensembl:ENSG00000143107, GeneCard:FNDC7, HGNC:HGNC:26668, HumanCyc Gene:HS13949, NCBI Gene:163479, RefSeq DNA:NT_032977, RefSeq Protein:NP_001138409, RefSeq RNA:NM_001144937, UniProtKB:Q5VTL7 No chr1 109255556 109285371 108712934 108742749 +PA142671757 54752 HGNC:25286 ENSG00000073598 fibronectin type III domain containing 8 FNDC8 DKFZp434H2215 Yes No Ensembl:ENSG00000073598, GeneCard:FNDC8, HGNC:HGNC:25286, HumanCyc Gene:HS12224, ModBase:Q8TC99, NCBI Gene:54752, RefSeq DNA:NT_010799, RefSeq Protein:NP_060029, RefSeq RNA:NM_017559, UniProtKB:Q8TC99 No chr17 33448598 33457751 35121612 35130732 +PA162380178 408263 HGNC:33547 ENSG00000172568 fibronectin type III domain containing 9 FNDC9 C5orf40, MGC27121 Yes No Ensembl:ENSG00000172568, GeneCard:C5orf40, HGNC:HGNC:33547, ModBase:Q8TBE3, NCBI Gene:408263, RefSeq DNA:NT_023133, RefSeq Protein:NP_001001343, RefSeq RNA:NM_001001343, UniProtKB:Q8TBE3 No chr5 156768607 156772729 157341599 157345721 +PA142671758 96459 HGNC:29418 ENSG00000217128 folliculin interacting protein 1 FNIP1 KIAA1961 Yes No Ensembl:ENSG00000217128, HGNC:HGNC:29418, ModBase:Q8TF40, NCBI Gene:96459, OMIM:610594, RefSeq DNA:NT_034772, RefSeq Protein:NP_001008738, RefSeq Protein:NP_588613, RefSeq RNA:NM_001008738, RefSeq RNA:NM_133372, UniProtKB:Q8TF40 No chr5 130977407 131132756 131641714 131797063 +PA162388758 57600 HGNC:29280 ENSG00000052795 folliculin interacting protein 2 FNIP2 O6-methylguanine-induced apoptosis 1 FNIPL, KIAA1450, MAPO1 Yes No Ensembl:ENSG00000052795, GeneCard:FNIP2, HGNC:HGNC:29280, ModBase:Q9P278, NCBI Gene:57600, OMIM:612768, RefSeq DNA:NT_016354, RefSeq Protein:NP_065891, RefSeq RNA:NM_020840, UniProtKB:Q9P278 No chr4 159690182 159829202 158768995 158908050 +PA28199 2339 HGNC:3782 ENSG00000168522 farnesyltransferase, CAAX box, subunit alpha FNTA """farnesyltransferase, CAAX box, alpha"", ""protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha"", ""protein prenyltransferase alpha subunit repeat containing 2""" FPTA, PGGT1A, PTAR2 Yes No Comparative Toxicogenomics Database:2339, Ensembl:ENSG00000168522, GenAtlas:FNTA, GeneCard:FNTA, HGNC:HGNC:3782, HumanCyc Gene:HS09779, ModBase:P49354, NCBI Gene:2339, OMIM:134635, RefSeq DNA:NT_167187, RefSeq Protein:NP_001018196, RefSeq Protein:NP_001018197, RefSeq Protein:NP_002018, RefSeq RNA:NM_001018676, RefSeq RNA:NM_001018677, RefSeq RNA:NM_002027, RefSeq RNA:NR_033698, UCSC Genome Browser:NM_002027, UniProtKB:P49354 No chr8 42911442 42940931 43056299 43085788 +PA28200 283226 HGNC:3783 ENSG00000254502 farnesyltransferase, CAAX box, alpha pseudogene 1 FNTAP1 Yes No Ensembl:ENSG00000254502, GenAtlas:FNTAL1, GeneCard:FNTAP1, HGNC:HGNC:3783, NCBI Gene:283226, RefSeq DNA:NG_005139, RefSeq DNA:NT_167190 No chr11 85906173 85907820 86195131 86196778 +PA28201 2341 HGNC:3784 ENSG00000230022 farnesyltransferase, CAAX box, alpha pseudogene 2 FNTAP2 Yes No Ensembl:ENSG00000230022, GenAtlas:FNTAL2, GeneCard:FNTAP2, HGNC:HGNC:3784, NCBI Gene:2341, RefSeq DNA:NG_005138, RefSeq DNA:NT_024524 No chr13 22104828 22105995 21530686 21531840 +PA28202 2342 HGNC:3785 ENSG00000257365 farnesyltransferase, CAAX box, subunit beta FNTB farnesyltransferase, CAAX box, beta FPTB Yes Yes Comparative Toxicogenomics Database:2342, Ensembl:ENSG00000257365, GenAtlas:FNTB, GeneCard:FNTB, HGNC:HGNC:3785, HumanCyc Gene:HS04975, NCBI Gene:2342, OMIM:134636, RefSeq DNA:NT_026437, RefSeq Protein:NP_002019, RefSeq RNA:NM_002028, UCSC Genome Browser:NM_002028, UniProtKB:P49356 No chr14 65453507 65529370 64986789 65062652 +PA134934777 54914 HGNC:23377 ENSG00000188352 focadhesin FOCAD FLJ20375, KIAA1797 Yes No Comparative Toxicogenomics Database:54914, Ensembl:ENSG00000188352, GeneCard:KIAA1797, HGNC:HGNC:23377, HumanCyc Gene:HS13661, ModBase:Q5VW36, NCBI Gene:54914, RefSeq DNA:NT_008413, RefSeq Protein:NP_060264, RefSeq RNA:NM_017794, UniProtKB:B3KNV9, UniProtKB:Q5VW36 No chr9 20658309 20995954 20658309 20995955 +PA28205 2346 HGNC:3788 ENSG00000086205 folate hydrolase 1 FOLH1 folate hydrolase (prostate-specific membrane antigen) 1, glutamate carboxylase II, glutamate carboxypeptidase 2, glutamate carboxypeptidase II FOLH, GCP2, GCPII, NAALAD1, NAALAdase, PSM, PSMA Yes Yes Comparative Toxicogenomics Database:2346, Ensembl:ENSG00000086205, GenAtlas:FOLH1, GeneCard:FOLH1, HGNC:HGNC:3788, HumanCyc Gene:HS01525, ModBase:Q04609, NCBI Gene:2346, OMIM:600934, RefSeq DNA:NT_009237, RefSeq Protein:NP_001014986, RefSeq Protein:NP_001180400, RefSeq Protein:NP_001180401, RefSeq Protein:NP_001180402, RefSeq Protein:NP_004467, RefSeq RNA:NM_001014986, RefSeq RNA:NM_001193471, RefSeq RNA:NM_001193472, RefSeq RNA:NM_001193473, RefSeq RNA:NM_004476, UCSC Genome Browser:NM_004476, UniProtKB:Q04609 No chr11 49168187 49230222 49145094 49208706 +PA165543408 219595 HGNC:13636 ENSG00000134612 folate hydrolase 1B FOLH1B Cell growth-inhibiting gene 26 protein, FOLHP, glutamate carboxypeptidase III, prostate specific membrane antigen like protein FOLH2, GCPIII, PSMAL Yes No Ensembl:ENSG00000134612, GeneCard:FOLH1B, HGNC:HGNC:13636, HumanCyc Gene:HS13536, NCBI Gene:219595, OMIM:609020, RefSeq DNA:NG_003258, RefSeq DNA:NT_167190, RefSeq Protein:NP_710163, RefSeq RNA:NM_153696, UniProtKB:Q9HBA9 No chr11 89370675 89431886 89637575 89698718 +PA28207 2348 HGNC:3791 ENSG00000110195 folate receptor alpha FOLR1 folate receptor 1, folate receptor 1 (adult), folate receptor alpha FOLR, FRα, FRα Yes No Comparative Toxicogenomics Database:2348, Ensembl:ENSG00000110195, GenAtlas:FOLR1, GeneCard:FOLR1, HGNC:HGNC:3791, HumanCyc Gene:HS03293, NCBI Gene:2348, OMIM:136430, OMIM:613068, RefSeq DNA:NG_015863, RefSeq DNA:NT_167190, RefSeq Protein:NP_000793, RefSeq Protein:NP_057936, RefSeq Protein:NP_057937, RefSeq Protein:NP_057941, RefSeq Protein:NP_057942, RefSeq Protein:NP_057943, RefSeq RNA:NM_000802, RefSeq RNA:NM_016724, RefSeq RNA:NM_016725, RefSeq RNA:NM_016729, RefSeq RNA:NM_016730, RefSeq RNA:NM_016731, UCSC Genome Browser:NM_000802, UniProtKB:P15328 No chr11 71900602 71907367 72189558 72196323 +PA28208 390221 HGNC:3792 ENSG00000256518 folate receptor 1 (adult) pseudogene 1 FOLR1P1 Yes No Ensembl:ENSG00000256518, GenAtlas:FOLR1P, GeneCard:FOLR1P1, HGNC:HGNC:3792, NCBI Gene:390221, RefSeq DNA:NG_005088, RefSeq DNA:NT_033927 No chr11 71869877 71870500 72158833 72159456 +PA28209 2350 HGNC:3793 ENSG00000165457 folate receptor beta FOLR2 folate receptor 2 (fetal) FRβ, FRβ Yes No Comparative Toxicogenomics Database:2350, Ensembl:ENSG00000165457, GenAtlas:FOLR2, GeneCard:FOLR2, HGNC:HGNC:3793, HumanCyc Gene:HS09232, NCBI Gene:2350, OMIM:136425, RefSeq DNA:NT_167190, RefSeq Protein:NP_000794, RefSeq Protein:NP_001107006, RefSeq Protein:NP_001107007, RefSeq Protein:NP_001107008, RefSeq RNA:NM_000803, RefSeq RNA:NM_001113534, RefSeq RNA:NM_001113535, RefSeq RNA:NM_001113536, UCSC Genome Browser:NM_000803, UniProtKB:P14207, UniProtKB:Q6GTE8 No chr11 71927819 71932994 72216775 72221950 +PA166351805 HGNC:3794 folate receptor 2 (fetal)-like FOLR2L Yes No HGNC:HGNC:3794 No 0 0 0 0 +PA28211 2352 HGNC:3795 ENSG00000110203 folate receptor gamma FOLR3 folate receptor 3, folate receptor 3 (gamma), folate receptor gamma FR-G, FRγ, FRγ Yes Yes Ensembl:ENSG00000110203, GenAtlas:FOLR3, GeneCard:FOLR3, HGNC:HGNC:3795, HumanCyc Gene:HS03294, NCBI Gene:2352, OMIM:602469, RefSeq DNA:NT_167190, RefSeq Protein:NP_000795, RefSeq RNA:NM_000804, UCSC Genome Browser:NM_000804, UniProtKB:P41439, UniProtKB:Q05C14 No chr11 71846771 71850934 72135710 72139892 +PA28212 2353 HGNC:3796 ENSG00000170345 Fos proto-oncogene, AP-1 transcription factor subunit FOS FBJ murine osteosarcoma viral oncogene homolog AP-1, c-fos Yes No Comparative Toxicogenomics Database:2353, Ensembl:ENSG00000170345, GenAtlas:FOS, GeneCard:FOS, HGNC:HGNC:3796, HumanCyc Gene:HS10107, ModBase:P01100, NCBI Gene:2353, OMIM:164810, RefSeq DNA:NT_026437, RefSeq Protein:NP_005243, RefSeq RNA:NM_005252, UCSC Genome Browser:NM_005252, UniProtKB:P01100, UniProtKB:Q6FG41 No chr14 75745477 75748937 75278778 75282234 +PA28213 2354 HGNC:3797 ENSG00000125740 FosB proto-oncogene, AP-1 transcription factor subunit FOSB FBJ murine osteosarcoma viral oncogene homolog B, activator protein 1, oncogene FOS-B AP-1, DKFZp686C0818, G0S3, GOS3, GOSB, MGC42291 Yes No Comparative Toxicogenomics Database:2354, Ensembl:ENSG00000125740, GenAtlas:FOSB, GeneCard:FOSB, HGNC:HGNC:3797, HumanCyc Gene:HS04922, ModBase:P53539, NCBI Gene:2354, OMIM:164772, RefSeq DNA:NT_011109, RefSeq Protein:NP_001107643, RefSeq Protein:NP_006723, RefSeq RNA:NM_001114171, RefSeq RNA:NM_006732, UCSC Genome Browser:NM_006732, UniProtKB:A8VJE1, UniProtKB:P53539 No chr19 45971253 45978437 45467995 45475179 +PA28214 8061 HGNC:13718 ENSG00000175592 FOS like 1, AP-1 transcription factor subunit FOSL1 FOS-like antigen 1 fra-1 Yes No Comparative Toxicogenomics Database:8061, Ensembl:ENSG00000175592, GenAtlas:FOSL1, GeneCard:FOSL1, HGNC:HGNC:13718, HumanCyc Gene:HS10957, ModBase:P15407, NCBI Gene:8061, OMIM:136515, RefSeq DNA:NT_167190, RefSeq Protein:NP_005429, RefSeq RNA:NM_005438, UCSC Genome Browser:NM_005438, UniProtKB:P15407 No chr11 65659616 65667997 65892136 65900526 +PA28215 2355 HGNC:3798 ENSG00000075426 FOS like 2, AP-1 transcription factor subunit FOSL2 FOS-like antigen 2 FLJ23306, FRA2 Yes No Comparative Toxicogenomics Database:2355, Ensembl:ENSG00000075426, GenAtlas:FOSL2, GeneCard:FOSL2, HGNC:HGNC:3798, HumanCyc Gene:HS01179, ModBase:P15408, NCBI Gene:2355, OMIM:601575, RefSeq DNA:NT_022184, RefSeq Protein:NP_005244, RefSeq RNA:NM_005253, UCSC Genome Browser:NM_005253, UniProtKB:B3KP27, UniProtKB:P15408, UniProtKB:Q6FG46 No chr2 28615704 28637516 28392759 28417312 +PA201090 3169 HGNC:5021 ENSG00000129514 forkhead box A1 FOXA1 HNF3A Yes No Comparative Toxicogenomics Database:3169, Ensembl:ENSG00000129514, GeneCard:FOXA1, HGNC:HGNC:5021, HumanCyc Gene:HS05287, ModBase:P55317, NCBI Gene:3169, OMIM:602294, RefSeq DNA:NT_026437, RefSeq Protein:NP_004487, RefSeq RNA:NM_004496, UCSC Genome Browser:NM_004496, UniProtKB:P55317 No chr14 38058757 38064325 37589552 37595120 +PA201091 3170 HGNC:5022 ENSG00000125798 forkhead box A2 FOXA2 HNF3B Yes No Comparative Toxicogenomics Database:3170, Ensembl:ENSG00000125798, GeneCard:FOXA2, HGNC:HGNC:5022, HumanCyc Gene:HS04934, ModBase:Q9Y261, NCBI Gene:3170, OMIM:600288, RefSeq DNA:NT_011387, RefSeq Protein:NP_068556, RefSeq Protein:NP_710141, RefSeq Protein:XP_002345442, RefSeq RNA:NM_021784, RefSeq RNA:NM_153675, RefSeq RNA:XM_002345401, UCSC Genome Browser:NM_021784, UniProtKB:B0ZTD4, UniProtKB:Q9Y261 No chr20 22561642 22566101 22581004 22585463 +PA201092 3171 HGNC:5023 ENSG00000170608 forkhead box A3 FOXA3 HNF3G Yes Yes Comparative Toxicogenomics Database:3171, Ensembl:ENSG00000170608, GeneCard:FOXA3, HGNC:HGNC:5023, HumanCyc Gene:HS10155, ModBase:P55318, NCBI Gene:3171, OMIM:602295, RefSeq DNA:NT_011109, RefSeq Protein:NP_004488, RefSeq RNA:NM_004497, UCSC Genome Browser:NM_004497, UniProtKB:P55318 No chr19 46367518 46377055 45864260 45873797 +PA28216 27023 HGNC:3799 ENSG00000171956 forkhead box B1 FOXB1 FKH5, HFKH-5 Yes No Comparative Toxicogenomics Database:27023, Ensembl:ENSG00000171956, GenAtlas:FOXB1, GeneCard:FOXB1, HGNC:HGNC:3799, HumanCyc Gene:HS10423, ModBase:Q99853, NCBI Gene:27023, RefSeq DNA:NT_010194, RefSeq Protein:NP_036314, RefSeq RNA:NM_012182, UCSC Genome Browser:NM_012182, UniProtKB:Q99853 No chr15 60296421 60298142 60004222 60005943 +PA145148830 442425 HGNC:23315 ENSG00000204612 forkhead box B2 FOXB2 bA159H20.4 Yes No Ensembl:ENSG00000204612, GeneCard:FOXB2, HGNC:HGNC:23315, ModBase:Q5VYV0, NCBI Gene:442425, RefSeq DNA:NT_008470, RefSeq Protein:NP_001013757, RefSeq RNA:NM_001013735, UniProtKB:Q5VYV0 No chr9 79634571 79635869 77019655 77020953 +PA28217 2296 HGNC:3800 ENSG00000054598 forkhead box C1 FOXC1 ARA, FKHL7, FREAC3, IGDA, IHG1, IRID1 Yes Yes Comparative Toxicogenomics Database:2296, Ensembl:ENSG00000054598, GenAtlas:FOXC1, GeneCard:FOXC1, HGNC:HGNC:3800, HumanCyc Gene:HS00672, ModBase:Q12948, NCBI Gene:2296, OMIM:601090, OMIM:601631, OMIM:602482, RefSeq DNA:NG_009368, RefSeq DNA:NT_007592, RefSeq Protein:NP_001444, RefSeq RNA:NM_001453, UCSC Genome Browser:NM_001453, UniProtKB:Q12948 No chr6 1610681 1614132 1610446 1613897 +PA28218 2303 HGNC:3801 ENSG00000176692 forkhead box C2 FOXC2 """forkhead box C2 (MFH-1, mesenchyme forkhead 1)"", ""mesenchyme forkhead 1""" FKHL14, MFH-1 Yes No Comparative Toxicogenomics Database:2303, Ensembl:ENSG00000176692, GenAtlas:FOXC2, GeneCard:FOXC2, HGNC:HGNC:3801, HumanCyc Gene:HS11069, ModBase:Q99958, NCBI Gene:2303, OMIM:153200, OMIM:153300, OMIM:153400, OMIM:602402, RefSeq DNA:NG_012025, RefSeq DNA:NT_010498, RefSeq Protein:NP_005242, RefSeq RNA:NM_005251, UCSC Genome Browser:NM_005251, UniProtKB:Q99958 No chr16 86600857 86602539 86567251 86568933 +PA28219 2297 HGNC:3802 ENSG00000251493 forkhead box D1 FOXD1 FKHL8, FREAC4 Yes No Comparative Toxicogenomics Database:2297, Ensembl:ENSG00000251493, GenAtlas:FOXD1, GeneCard:FOXD1, HGNC:HGNC:3802, ModBase:Q16676, NCBI Gene:2297, OMIM:601091, RefSeq DNA:NT_006713, RefSeq Protein:NP_004463, RefSeq RNA:NM_004472, UCSC Genome Browser:NM_004472, UniProtKB:Q16676 No chr5 72742083 72744352 73446256 73448527 +PA28220 2306 HGNC:3803 ENSG00000186564 forkhead box D2 FOXD2 FKHL17, FREAC9 Yes No Ensembl:ENSG00000186564, GenAtlas:FOXD2, GeneCard:FOXD2, HGNC:HGNC:3803, ModBase:O60548, NCBI Gene:2306, OMIM:602211, RefSeq DNA:NT_032977, RefSeq Protein:NP_004465, RefSeq RNA:NM_004474, UCSC Genome Browser:NM_004474, UniProtKB:O60548 No chr1 47901689 47906363 47436017 47440691 +PA28221 27022 HGNC:3804 ENSG00000187140 forkhead box D3 FOXD3 Genesis, HFH2 Yes No Comparative Toxicogenomics Database:27022, Ensembl:ENSG00000187140, GenAtlas:FOXD3, GeneCard:FOXD3, HGNC:HGNC:3804, ModBase:Q9UJU5, NCBI Gene:27022, OMIM:607836, OMIM:611539, RefSeq DNA:NG_012220, RefSeq DNA:NT_032977, RefSeq Protein:NP_036315, RefSeq RNA:NM_012183, UCSC Genome Browser:NM_012183, UniProtKB:Q9UJU5 No chr1 63788730 63790797 63323059 63325126 +PA28222 2298 HGNC:3805 ENSG00000170122 forkhead box D4 FOXD4 FKHL9, FOXD4a, FREAC5 Yes No Ensembl:ENSG00000170122, GenAtlas:FOXD4, GeneCard:FOXD4, HGNC:HGNC:3805, ModBase:Q12950, NCBI Gene:2298, OMIM:601092, RefSeq DNA:NT_008413, RefSeq Protein:NP_997188, RefSeq RNA:NM_207305, UCSC Genome Browser:NM_012184, UniProtKB:Q12950 No chr9 116231 118417 116231 118417 +PA134928763 200350 HGNC:18521 ENSG00000184492 forkhead box D4 like 1 FOXD4L1 forkhead box D4-like 1 FOXD5 Yes No Ensembl:ENSG00000184492, GeneCard:FOXD4L1, HGNC:HGNC:18521, HumanCyc Gene:HS10070, ModBase:Q9NU39, NCBI Gene:200350, OMIM:611084, RefSeq DNA:NT_022135, RefSeq Protein:NP_036316, RefSeq RNA:NM_012184, UniProtKB:B3KVK3, UniProtKB:Q9NU39 No chr2 114256661 114258727 113499084 113501150 +PA134941846 286380 HGNC:18523 ENSG00000187559 forkhead box D4 like 3 FOXD4L3 forkhead box D4-like 3 FOXD6, OTTHUMG00000019959 Yes No Ensembl:ENSG00000187559, GeneCard:FOXD4L3, HGNC:HGNC:18523, ModBase:Q6VB84, NCBI Gene:286380, OMIM:611086, RefSeq DNA:NT_008470, RefSeq Protein:NP_954586, RefSeq RNA:NM_199135, UniProtKB:Q5JTX9 No chr9 70917783 70920000 68302867 68305084 +PA142671752 349334 HGNC:23762 ENSG00000184659 forkhead box D4 like 4 FOXD4L4 forkhead box D4-like 4 FOXD4L2, OTTHUMG00000013337, OTTHUMG00000066752, bA460E7.2 Yes No Ensembl:ENSG00000184659, GeneCard:FOXD4L4, HGNC:HGNC:23762, ModBase:Q8WXT5, NCBI Gene:349334, RefSeq DNA:NT_113816, RefSeq Protein:NP_954714, RefSeq RNA:NM_199244, UniProtKB:Q8WXT5 No chr9 70426623 70429731 65737146 65738396 +PA162388804 653427 HGNC:18522 ENSG00000204779 forkhead box D4 like 5 FOXD4L5 forkhead box D4-like 5 OTTHUMG00000013332, bA15J10.2 Yes No Ensembl:ENSG00000204779, GeneCard:FOXD4L5, HGNC:HGNC:18522, ModBase:Q5VV16, NCBI Gene:653427, RefSeq DNA:NT_078070, RefSeq Protein:NP_001119806, RefSeq RNA:NM_001126334, UniProtKB:Q5VV16 No chr9 70175707 70178815 65282101 65285209 +PA162388805 653404 HGNC:31986 ENSG00000273514 forkhead box D4 like 6 FOXD4L6 forkhead box D4-like 6 OTTHUMG00000066822 Yes No Ensembl:ENSG00000273514, GeneCard:FOXD4L6, HGNC:HGNC:31986, ModBase:Q3SYB3, NCBI Gene:653404, RefSeq DNA:NT_078070, RefSeq Protein:NP_001078945, RefSeq RNA:NM_001085476, UniProtKB:Q3SYB3 No chr9 69199480 69202204 41126251 41128975 +PA28223 2304 HGNC:3806 ENSG00000178919 forkhead box E1 FOXE1 forkhead box E1 (thyroid transcription factor 2), thyroid transcription factor 2 FKHL15, FOXE2, HFKH4, TITF2, TTF-2 Yes No Comparative Toxicogenomics Database:2304, Ensembl:ENSG00000178919, GenAtlas:FOXE1, GeneCard:FOXE1, HGNC:HGNC:3806, HumanCyc Gene:HS11328, ModBase:O00358, NCBI Gene:2304, OMIM:241850, OMIM:602617, RefSeq DNA:NG_011979, RefSeq DNA:NT_008470, RefSeq Protein:NP_004464, RefSeq RNA:NM_004473, UCSC Genome Browser:NM_004473, UniProtKB:O00358 No chr9 100615537 100618997 97853255 97856715 +PA28225 2301 HGNC:3808 ENSG00000186790 forkhead box E3 FOXE3 FKHL12, FREAC8 Yes No Comparative Toxicogenomics Database:2301, Ensembl:ENSG00000186790, GenAtlas:FOXE3, GeneCard:FOXE3, HGNC:HGNC:3808, ModBase:Q13461, NCBI Gene:2301, OMIM:107250, OMIM:601094, OMIM:610256, RefSeq DNA:NG_016192, RefSeq DNA:NT_032977, RefSeq Protein:NP_036318, RefSeq RNA:NM_012186, UCSC Genome Browser:NM_012186, UniProtKB:Q13461 No chr1 47881744 47883724 47416072 47418052 +PA28226 2294 HGNC:3809 ENSG00000103241 forkhead box F1 FOXF1 FKHL5, FREAC1 Yes No Comparative Toxicogenomics Database:2294, Ensembl:ENSG00000103241, GenAtlas:FOXF1, GeneCard:FOXF1, HGNC:HGNC:3809, HumanCyc Gene:HS02478, ModBase:Q12946, NCBI Gene:2294, OMIM:265380, OMIM:601089, RefSeq DNA:NG_016273, RefSeq DNA:NT_010498, RefSeq Protein:NP_001442, RefSeq RNA:NM_001451, UCSC Genome Browser:NM_001451, UniProtKB:Q12946 No chr16 86544133 86548070 86510527 86514464 +PA28227 2295 HGNC:3810 ENSG00000137273 forkhead box F2 FOXF2 FKHL6, FREAC2 Yes Yes Comparative Toxicogenomics Database:2295, Ensembl:ENSG00000137273, GenAtlas:FOXF2, GeneCard:FOXF2, HGNC:HGNC:3810, HumanCyc Gene:HS06302, ModBase:Q12947, NCBI Gene:2295, OMIM:603250, RefSeq DNA:NT_007592, RefSeq Protein:NP_001443, RefSeq RNA:NM_001452, UCSC Genome Browser:NM_001452, UniProtKB:Q12947 No chr6 1390069 1395832 1389834 1395597 +PA162388806 2290 HGNC:3811 ENSG00000176165 forkhead box G1 FOXG1 brain factor 1 BF1, FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C, HBF-3, HFK1, HFK2, HFK3, QIN Yes No Ensembl:ENSG00000176165, GeneCard:FOXG1, HGNC:HGNC:3811, HumanCyc Gene:HS11007, NCBI Gene:2290, OMIM:164874, OMIM:613454, RefSeq DNA:NG_009367, RefSeq DNA:NT_026437, RefSeq Protein:NP_005240, RefSeq RNA:NM_005249, UniProtKB:P55316 No chr14 29236278 29239483 28767072 28770277 +PA28231 8928 HGNC:3814 ENSG00000160973 forkhead box H1 FOXH1 forkhead activin signal transducer-1 FAST1 Yes No Ensembl:ENSG00000160973, GenAtlas:FOXH1, GeneCard:FOXH1, HGNC:HGNC:3814, HumanCyc Gene:HS08560, ModBase:O75593, NCBI Gene:8928, OMIM:603621, RefSeq DNA:NT_037704, RefSeq Protein:NP_003914, RefSeq RNA:NM_003923, UCSC Genome Browser:NM_003923, UniProtKB:O75593 No chr8 145699115 145701718 144473732 144476335 +PA28232 2299 HGNC:3815 ENSG00000168269 forkhead box I1 FOXI1 FKHL10, FREAC6 Yes No Comparative Toxicogenomics Database:2299, Ensembl:ENSG00000168269, GenAtlas:FOXI1, GeneCard:FOXI1, HGNC:HGNC:3815, HumanCyc Gene:HS09721, ModBase:Q12951, NCBI Gene:2299, OMIM:600791, OMIM:601093, RefSeq DNA:NG_012068, RefSeq DNA:NT_023133, RefSeq Protein:NP_036320, RefSeq Protein:NP_658982, RefSeq RNA:NM_012188, RefSeq RNA:NM_144769, UCSC Genome Browser:NM_012188, UniProtKB:Q12951 No chr5 169532917 169536729 170105897 170109725 +PA162388813 399823 HGNC:32448 ENSG00000186766 forkhead box I2 FOXI2 FLJ46831 Yes No Ensembl:ENSG00000186766, GeneCard:FOXI2, HGNC:HGNC:32448, NCBI Gene:399823, RefSeq DNA:NT_008818, RefSeq Protein:NP_997309, RefSeq RNA:NM_207426, UniProtKB:Q6ZQN5 No chr10 129535538 129539450 127737274 127741186 +PA164720107 344167 HGNC:35123 ENSG00000214336 forkhead box I3 FOXI3 Yes No Ensembl:ENSG00000214336, GeneCard:FOXI3, HGNC:HGNC:35123, NCBI Gene:344167, OMIM:612351, RefSeq DNA:NT_022184, RefSeq Protein:NP_001129121, RefSeq RNA:NM_001135649, UniProtKB:A8MTJ6 No chr2 88747726 88752053 88448207 88452535 +PA28233 2302 HGNC:3816 ENSG00000129654 forkhead box J1 FOXJ1 FKHL13, HFH-4, HFH4 Yes No Comparative Toxicogenomics Database:2302, Ensembl:ENSG00000129654, GenAtlas:FOXJ1, GeneCard:FOXJ1, HGNC:HGNC:3816, HumanCyc Gene:HS05301, ModBase:Q92949, NCBI Gene:2302, OMIM:602291, OMIM:607154, RefSeq DNA:NG_013345, RefSeq DNA:NT_010783, RefSeq Protein:NP_001445, RefSeq RNA:NM_001454, UCSC Genome Browser:NM_001454, UniProtKB:Q92949 No chr17 74132414 74137380 76136333 76141299 +PA134982817 55810 HGNC:24818 ENSG00000065970 forkhead box J2 FOXJ2 FHX Yes No Ensembl:ENSG00000065970, GeneCard:FOXJ2, HGNC:HGNC:24818, HumanCyc Gene:HS00860, ModBase:Q9P0K8, NCBI Gene:55810, RefSeq DNA:NT_009714, RefSeq Protein:NP_060886, RefSeq RNA:NM_018416, UniProtKB:Q9P0K8 No chr12 8185298 8208118 8032680 8055522 +PA134945417 22887 HGNC:29178 ENSG00000198815 forkhead box J3 FOXJ3 KIAA1041 Yes No Comparative Toxicogenomics Database:22887, Ensembl:ENSG00000198815, GeneCard:FOXJ3, HGNC:HGNC:29178, ModBase:Q9UPW0, NCBI Gene:22887, RefSeq DNA:NT_032977, RefSeq Protein:NP_001185779, RefSeq Protein:NP_001185780, RefSeq Protein:NP_001185781, RefSeq Protein:NP_055762, RefSeq RNA:NM_001198850, RefSeq RNA:NM_001198851, RefSeq RNA:NM_001198852, RefSeq RNA:NM_014947, UniProtKB:Q9UPW0 No chr1 42642210 42801548 42176539 42335877 +PA134978307 221937 HGNC:23480 ENSG00000164916 forkhead box K1 FOXK1 IMAGE:5164497 Yes No Comparative Toxicogenomics Database:221937, Ensembl:ENSG00000164916, GeneCard:FOXK1, HGNC:HGNC:23480, ModBase:P85037, NCBI Gene:221937, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001032242, RefSeq RNA:NM_001037165, UniProtKB:P85037 No chr7 4721930 4811074 4644691 4771443 +PA29851 3607 HGNC:6036 ENSG00000141568 forkhead box K2 FOXK2 ILF, ILF1 Yes No Comparative Toxicogenomics Database:3607, Ensembl:ENSG00000141568, GenAtlas:FOXK2, GeneCard:FOXK2, HGNC:HGNC:6036, HumanCyc Gene:HS06852, ModBase:Q01167, NCBI Gene:3607, OMIM:147685, RefSeq DNA:NT_010663, RefSeq Protein:NP_004505, RefSeq RNA:NM_004514, UCSC Genome Browser:NM_004514, UniProtKB:Q01167 No chr17 80477594 80562483 82519718 82604607 +PA28234 2300 HGNC:3817 ENSG00000176678 forkhead box L1 FOXL1 FKH6, FKHL11, FREAC7 Yes No Comparative Toxicogenomics Database:2300, Ensembl:ENSG00000176678, GenAtlas:FOXL1, GeneCard:FOXL1, HGNC:HGNC:3817, HumanCyc Gene:HS11068, ModBase:Q12952, NCBI Gene:2300, OMIM:603252, RefSeq DNA:NT_010498, RefSeq Protein:NP_005241, RefSeq RNA:NM_005250, UCSC Genome Browser:NM_005250, UniProtKB:Q12952, UniProtKB:Q498Y4 No chr16 86612115 86615304 86578509 86581698 +PA28235 668 HGNC:1092 ENSG00000183770 forkhead box L2 FOXL2 BPES, BPES1 Yes No Comparative Toxicogenomics Database:668, Ensembl:ENSG00000183770, GenAtlas:FOXL2, GeneCard:FOXL2, HGNC:HGNC:1092, ModBase:P58012, NCBI Gene:668, OMIM:110100, OMIM:605597, OMIM:608996, RefSeq DNA:NG_012454, RefSeq DNA:NT_005612, RefSeq Protein:NP_075555, RefSeq RNA:NM_023067, UCSC Genome Browser:NM_023067, UniProtKB:P58012, UniProtKB:Q53ZD3 No chr3 138663066 138665982 138944224 138947140 +PA162379723 401089 HGNC:34428 ENSG00000206262 FOXL2 neighbor FOXL2NB chromosome 3 open reading frame 72 C3orf72, FLJ43329 Yes No Ensembl:ENSG00000206262, GeneCard:C3orf72, HGNC:HGNC:34428, ModBase:Q6ZUU3, NCBI Gene:401089, RefSeq DNA:NT_005612, RefSeq Protein:NP_001035150, RefSeq RNA:NM_001040061, UniProtKB:Q6ZUU3, UniProtKB:Q8NB78 No chr3 138666076 138672830 138947234 138953992 +PA166351806 116033993 HGNC:54201 forkhead box L3 FOXL3 Yes No HGNC:HGNC:54201, NCBI Gene:116033993 No 0 0 0 0 +PA28236 2305 HGNC:3818 ENSG00000111206 forkhead box M1 FOXM1 M-phase phosphoprotein 2 FKHL16, HFH-11, HNF-3, INS-1, MPHOSPH2, MPP2, TGT3, trident Yes No Comparative Toxicogenomics Database:2305, Ensembl:ENSG00000111206, GenAtlas:FOXM1, GeneCard:FOXM1, HGNC:HGNC:3818, HumanCyc Gene:HS03379, ModBase:Q08050, NCBI Gene:2305, OMIM:602341, RefSeq DNA:NT_009759, RefSeq Protein:NP_068772, RefSeq Protein:NP_973731, RefSeq Protein:NP_973732, RefSeq RNA:NM_021953, RefSeq RNA:NM_202002, RefSeq RNA:NM_202003, UCSC Genome Browser:NM_021953, UniProtKB:Q08050, UniProtKB:Q53Y49 No chr12 2966846 2986321 2857681 2877155 +PA37368 8456 HGNC:12765 ENSG00000109101 forkhead box N1 FOXN1 FKHL20, RONU, WHN Yes No Comparative Toxicogenomics Database:8456, Ensembl:ENSG00000109101, GeneCard:FOXN1, HGNC:HGNC:12765, HumanCyc Gene:HS03198, ModBase:O15353, NCBI Gene:8456, OMIM:600838, OMIM:601705, RefSeq DNA:NG_007260, RefSeq DNA:NT_010799, RefSeq Protein:NP_003584, RefSeq RNA:NM_003593, UCSC Genome Browser:NM_003593, UniProtKB:O15353 No chr17 26833249 26865175 28506211 28538900 +PA162388822 3344 HGNC:5281 ENSG00000170802 forkhead box N2 FOXN2 HTLF Yes No Ensembl:ENSG00000170802, GeneCard:FOXN2, HGNC:HGNC:5281, HumanCyc Gene:HS10183, ModBase:P32314, NCBI Gene:3344, OMIM:143089, RefSeq DNA:NT_022184, RefSeq Protein:NP_002149, RefSeq RNA:NM_002158, UniProtKB:P32314 No chr2 48541783 48606434 48314640 48379295 +PA26460 1112 HGNC:1928 ENSG00000053254 forkhead box N3 FOXN3 C14orf116, CHES1 Yes No Comparative Toxicogenomics Database:1112, Ensembl:ENSG00000053254, GenAtlas:CHES1, GeneCard:CHES1, GeneCard:FOXN3, HGNC:HGNC:1928, HumanCyc Gene:HS00654, NCBI Gene:1112, OMIM:602628, RefSeq DNA:NT_026437, RefSeq Protein:NP_001078940, RefSeq Protein:NP_005188, RefSeq RNA:NM_001085471, RefSeq RNA:NM_005197, UCSC Genome Browser:NM_005197, UniProtKB:O00409 No chr14 89622516 90085506 89156172 89619150 +PA134982965 121643 HGNC:21399 ENSG00000139445 forkhead box N4 FOXN4 Yes No Ensembl:ENSG00000139445, GeneCard:FOXN4, HGNC:HGNC:21399, ModBase:Q96NZ1, NCBI Gene:121643, OMIM:609429, RefSeq DNA:NT_009775, RefSeq Protein:NP_998761, RefSeq RNA:NM_213596, UniProtKB:A6H901, UniProtKB:Q96NZ1 No chr12 109715783 109747025 109277978 109309406 +PA28237 2308 HGNC:3819 ENSG00000150907 forkhead box O1 FOXO1 FKH1, FKHR, FOXO1A Yes Yes Comparative Toxicogenomics Database:2308, Ensembl:ENSG00000150907, GenAtlas:FOXO1A, GeneCard:FOXO1, GeneCard:FOXO1A, HGNC:HGNC:3819, HumanCyc Gene:HS07694, NCBI Gene:2308, OMIM:136533, OMIM:268220, RefSeq DNA:NG_023244, RefSeq DNA:NT_024524, RefSeq Protein:NP_002006, RefSeq RNA:NM_002015, UCSC Genome Browser:NM_002015, UniProtKB:Q12778 No chr13 41129801 41240734 40555664 40666597 +PA28238 2311 HGNC:3820 ENSG00000214295 forkhead box O1B pseudogene FOXO1B Yes No Ensembl:ENSG00000214295, GenAtlas:FOXO1B, GeneCard:FOXO1B, HGNC:HGNC:3820, NCBI Gene:2311, RefSeq DNA:NG_001120, RefSeq DNA:NT_023133 No chr5 180525777 180527878 181098777 181100878 +PA28239 2309 HGNC:3821 ENSG00000118689 forkhead box O3 FOXO3 AF6q21, FKHRL1, FOXO2, FOXO3A Yes Yes Comparative Toxicogenomics Database:2309, Ensembl:ENSG00000118689, GenAtlas:FOXO3A, GeneCard:FOXO3, GeneCard:FOXO3A, HGNC:HGNC:3821, HumanCyc Gene:HS04242, NCBI Gene:2309, OMIM:602681, RefSeq DNA:NT_025741, RefSeq Protein:NP_001446, RefSeq Protein:NP_963853, RefSeq RNA:NM_001455, RefSeq RNA:NM_201559, UCSC Genome Browser:NM_001455, UniProtKB:O43524 No chr6 108881026 109005972 108559823 108684769 +PA28240 2310 HGNC:3822 ENSG00000240445 forkhead box O3B FOXO3B forkhead box O3B pseudogene FKHRL1P1 Yes No Ensembl:ENSG00000240445, GenAtlas:FOXO3B, GeneCard:FOXO3B, HGNC:HGNC:3822, NCBI Gene:2310, RefSeq DNA:NT_010718, RefSeq RNA:NR_026718 No chr17 18569236 18576494 18665923 18673181 +PA162388882 4303 HGNC:7139 ENSG00000184481 forkhead box O4 FOXO4 AFX1, MLLT7 Yes No Ensembl:ENSG00000184481, GeneCard:FOXO4, HGNC:HGNC:7139, ModBase:P98177, NCBI Gene:4303, OMIM:300033, RefSeq DNA:NG_016418, RefSeq DNA:NT_011669, RefSeq Protein:NP_001164402, RefSeq Protein:NP_005929, RefSeq RNA:NM_001170931, RefSeq RNA:NM_005938, UniProtKB:P98177 No chrX 70315999 70323384 71096149 71103534 +PA162388893 100132074 HGNC:24814 ENSG00000204060 forkhead box O6 FOXO6 Yes No Ensembl:ENSG00000204060, GeneCard:FOXO6, HGNC:HGNC:24814, NCBI Gene:100132074, OMIM:611457, RefSeq DNA:NT_032977, RefSeq Protein:XP_002342143, RefSeq Protein:XP_002346420, RefSeq RNA:XM_002342102, RefSeq RNA:XM_002346379, UniProtKB:A8MYZ6 No chr1 41827328 41849263 41361931 41383591 +PA28241 27086 HGNC:3823 ENSG00000114861 forkhead box P1 FOXP1 PAX5/FOXP1 fusion protein, fork head-related protein like B, glutamine-rich factor 1 12CC4, HSPC215, QRF1, hFKH1B Yes No Comparative Toxicogenomics Database:27086, Ensembl:ENSG00000114861, GenAtlas:FOXP1, GeneCard:FOXP1, HGNC:HGNC:3823, HumanCyc Gene:HS03812, ModBase:Q9H334, NCBI Gene:27086, OMIM:605515, RefSeq DNA:NT_022459, RefSeq Protein:NP_001012523, RefSeq Protein:NP_116071, RefSeq RNA:NM_001012505, RefSeq RNA:NM_032682, UCSC Genome Browser:NM_032682, UniProtKB:Q548T7, UniProtKB:Q9BSG9, UniProtKB:Q9H334 No chr3 71003865 71633140 70954714 71583989 +PA28242 93986 HGNC:13875 ENSG00000128573 forkhead box P2 FOXP2 CAG repeat protein 44, forkhead/winged-helix transcription factor, speech and language disorder 1, trinucleotide repeat containing 10 CAGH44, SPCH1, TNRC10 Yes No Comparative Toxicogenomics Database:93986, Ensembl:ENSG00000128573, GenAtlas:FOXP2, GeneCard:FOXP2, HGNC:HGNC:13875, HumanCyc Gene:HS05197, ModBase:Q8NFQ1, NCBI Gene:93986, OMIM:602081, OMIM:605317, RefSeq DNA:NG_007491, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001166237, RefSeq Protein:NP_001166238, RefSeq Protein:NP_055306, RefSeq Protein:NP_683696, RefSeq Protein:NP_683697, RefSeq Protein:NP_683698, RefSeq RNA:NM_001172766, RefSeq RNA:NM_001172767, RefSeq RNA:NM_014491, RefSeq RNA:NM_148898, RefSeq RNA:NM_148899, RefSeq RNA:NM_148900, RefSeq RNA:NR_033766, RefSeq RNA:NR_033767, UCSC Genome Browser:NM_014491, UniProtKB:B4DLD9, UniProtKB:O15409, UniProtKB:Q8N6B5 No chr7 113726365 114333827 114086310 114693772 +PA201094 50943 HGNC:6106 ENSG00000049768 forkhead box P3 FOXP3 AIID, DIETER, IPEX, JM2, PIDX, SCURFIN, XPID Yes Yes Comparative Toxicogenomics Database:50943, Ensembl:ENSG00000049768, GeneCard:FOXP3, HGNC:HGNC:6106, HumanCyc Gene:HS00627, ModBase:Q9BZS1, NCBI Gene:50943, OMIM:222100, OMIM:300292, OMIM:304790, RefSeq DNA:NG_007392, RefSeq DNA:NT_079573, RefSeq Protein:NP_001107849, RefSeq Protein:NP_054728, RefSeq RNA:NM_001114377, RefSeq RNA:NM_014009, UCSC Genome Browser:NM_014009, UniProtKB:Q9BZS1 No chrX 49106897 49122200 49250436 49266505 +PA134943098 116113 HGNC:20842 ENSG00000137166 forkhead box P4 FOXP4 FLJ40908 Yes No Ensembl:ENSG00000137166, GeneCard:FOXP4, HGNC:HGNC:20842, ModBase:Q8IVH2, NCBI Gene:116113, OMIM:608924, RefSeq DNA:NT_007592, RefSeq Protein:NP_001012426, RefSeq Protein:NP_001012427, RefSeq Protein:NP_612466, RefSeq RNA:NM_001012426, RefSeq RNA:NM_001012427, RefSeq RNA:NM_138457, UniProtKB:Q7Z7F8, UniProtKB:Q8IVH2, UniProtKB:Q8IW55 No chr6 41514164 41570122 41546426 41602384 +PA134924898 94234 HGNC:20951 ENSG00000164379 forkhead box Q1 FOXQ1 HFH1 Yes No Comparative Toxicogenomics Database:94234, Ensembl:ENSG00000164379, GeneCard:FOXQ1, HGNC:HGNC:20951, HumanCyc Gene:HS15191, ModBase:Q9C009, NCBI Gene:94234, OMIM:612788, RefSeq DNA:NT_007592, RefSeq Protein:NP_150285, RefSeq RNA:NM_033260, UniProtKB:Q9C009 No chr6 1312675 1314993 1312440 1314758 +PA134959382 283150 HGNC:29980 ENSG00000176302 forkhead box R1 FOXR1 DLNB13, FOXN5 Yes No Ensembl:ENSG00000176302, GeneCard:FOXR1, HGNC:HGNC:29980, ModBase:Q6PIV2, NCBI Gene:283150, RefSeq DNA:NT_033899, RefSeq Protein:NP_859072, RefSeq RNA:NM_181721, UniProtKB:Q6PIV2 No chr11 118842417 118851997 118971398 118981601 +PA134950741 139628 HGNC:30469 ENSG00000189299 forkhead box R2 FOXR2 FOXN6, MGC21658 Yes No Ensembl:ENSG00000189299, GeneCard:FOXR2, HGNC:HGNC:30469, ModBase:Q6PJQ5, NCBI Gene:139628, RefSeq DNA:NG_021325, RefSeq DNA:NT_011630, RefSeq Protein:NP_940853, RefSeq RNA:NM_198451, UniProtKB:Q6PJQ5 No chrX 55649833 55652621 55623400 55626188 +PA143485473 55572 HGNC:26927 ENSG00000110074 FAD dependent oxidoreductase domain containing 1 FOXRED1 FAD-dependent oxidoreductase domain containing 1 H17 Yes No Ensembl:ENSG00000110074, GeneCard:FOXRED1, HGNC:HGNC:26927, HumanCyc Gene:HS03282, ModBase:Q96CU9, NCBI Gene:55572, RefSeq DNA:NT_033899, RefSeq Protein:NP_060017, RefSeq RNA:NM_017547, RefSeq RNA:NR_037647, RefSeq RNA:NR_037648, UniProtKB:Q96CU9 No chr11 126138935 126148027 126269040 126278132 +PA145148808 80020 HGNC:26264 ENSG00000100350 FAD dependent oxidoreductase domain containing 2 FOXRED2 ER flavoprotein associated with degradation, FAD-dependent oxidoreductase domain containing 2 ERFAD, FLJ23322 Yes No Comparative Toxicogenomics Database:80020, Ensembl:ENSG00000100350, GeneCard:FOXRED2, HGNC:HGNC:26264, HumanCyc Gene:HS02055, ModBase:Q8IWF2, NCBI Gene:80020, RefSeq DNA:NT_011520, RefSeq Protein:NP_001095841, RefSeq Protein:NP_079231, RefSeq RNA:NM_001102371, RefSeq RNA:NM_024955, UniProtKB:Q8IWF2 No chr22 36883233 36903148 36487186 36507101 +PA162388894 2307 HGNC:3735 ENSG00000179772 forkhead box S1 FOXS1 FKHL18, FREAC10 Yes No Ensembl:ENSG00000179772, GeneCard:FOXS1, HGNC:HGNC:3735, HumanCyc Gene:HS11412, ModBase:O43638, NCBI Gene:2307, OMIM:602939, RefSeq DNA:NT_011362, RefSeq Protein:NP_004109, RefSeq RNA:NM_004118, UniProtKB:O43638 No chr20 30432103 30433420 31844300 31845617 +PA167 2356 HGNC:3824 ENSG00000136877 folylpolyglutamate synthase FPGS Yes Yes Comparative Toxicogenomics Database:2356, Ensembl:ENSG00000136877, GenAtlas:FPGS, GeneCard:FPGS, HGNC:HGNC:3824, HumanCyc Gene:HS06237, ModBase:Q05932, NCBI Gene:2356, OMIM:136510, RefSeq DNA:NG_023245, RefSeq DNA:NT_008470, RefSeq Protein:NP_001018088, RefSeq Protein:NP_004948, RefSeq RNA:NM_001018078, RefSeq RNA:NM_004957, UCSC Genome Browser:NM_004957, UniProtKB:Q05932, UniProtKB:Q5JU19 No chr9 130565137 130576799 127802858 127814520 +PA28243 8790 HGNC:3825 ENSG00000254685 fucose-1-phosphate guanylyltransferase FPGT GFPP Yes No Ensembl:ENSG00000254685, GenAtlas:FPGT, GeneCard:FPGT, HGNC:HGNC:3825, HumanCyc Gene:HS04052, ModBase:O14772, NCBI Gene:8790, OMIM:603609, RefSeq DNA:NT_032977, RefSeq Protein:NP_001186257, RefSeq Protein:NP_001186258, RefSeq Protein:NP_003829, RefSeq RNA:NM_001199328, RefSeq RNA:NM_001199329, RefSeq RNA:NM_003838, UCSC Genome Browser:NM_003838, UniProtKB:O14772 No chr1 74663896 74674533 74198212 74208702 +PA28244 2357 HGNC:3826 ENSG00000171051 formyl peptide receptor 1 FPR1 N-formylpeptide receptor, fMet-Leu-Phe receptor FMLP, FPR Yes No Comparative Toxicogenomics Database:2357, Ensembl:ENSG00000171051, GenAtlas:FPR1, GeneCard:FPR1, HGNC:HGNC:3826, HumanCyc Gene:HS10233, IUPHAR Receptor:222, ModBase:P21462, NCBI Gene:2357, OMIM:136537, RefSeq DNA:NG_023426, RefSeq DNA:NT_011109, RefSeq Protein:NP_001180235, RefSeq Protein:NP_002020, RefSeq RNA:NM_001193306, RefSeq RNA:NM_002029, UCSC Genome Browser:NM_002029, UniProtKB:P21462 No chr19 52249023 52255150 51745770 51751897 +PA162388901 2358 HGNC:3827 ENSG00000171049 formyl peptide receptor 2 FPR2 N-formyl peptide receptor 2, lipoxin A4 receptor ALX, ALXR, FMLP-R-II, FMLPX, FPR2A, FPRH2, FPRL1, HM63, LXA4R Yes No Ensembl:ENSG00000171049, GeneCard:FPR2, HGNC:HGNC:3827, HumanCyc Gene:HS10232, IUPHAR Receptor:223, ModBase:P25090, NCBI Gene:2358, OMIM:136538, RefSeq DNA:NT_011109, RefSeq Protein:NP_001005738, RefSeq Protein:NP_001453, RefSeq RNA:NM_001005738, RefSeq RNA:NM_001462, UniProtKB:P25090 No chr19 52264453 52273779 51752026 51770526 +PA162388910 2359 HGNC:3828 ENSG00000187474 formyl peptide receptor 3 FPR3 N-formyl peptide receptor 3 FMLPY, FPRH1, FPRL2, RMLP-R-I Yes No Ensembl:ENSG00000187474, GeneCard:FPR3, HGNC:HGNC:3828, IUPHAR Receptor:224, ModBase:P25089, NCBI Gene:2359, OMIM:136539, RefSeq DNA:NT_011109, RefSeq Protein:NP_002021, RefSeq RNA:NM_002030, UniProtKB:P25089, UniProtKB:Q6L5J4 No chr19 52298411 52329334 51795146 51826207 +PA28247 2431 HGNC:3829 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) FRA10A Yes No GenAtlas:FRA10A, GeneCard:FRA10A, HGNC:HGNC:3829, NCBI Gene:2431, OMIM:136620 No chr10 +PA25476 118924 HGNC:1162 ENSG00000148690 FRA10A associated CGG repeat 1 FRA10AC1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 C10orf4 Yes No Ensembl:ENSG00000148690, GenAtlas:C10orf4, GeneCard:C10orf4, GeneCard:FRA10AC1, HGNC:HGNC:1162, HumanCyc Gene:HS14251, NCBI Gene:118924, OMIM:608866, RefSeq DNA:NG_016832, RefSeq DNA:NT_030059, RefSeq Protein:NP_660289, RefSeq RNA:NM_145246, RefSeq RNA:NM_203438, RefSeq RNA:NM_203439, RefSeq RNA:NM_203440, RefSeq RNA:NM_203441, UCSC Genome Browser:NM_145246, UniProtKB:Q70Z53 No chr10 95427640 95462329 93667883 93702572 +PA28248 2432 HGNC:3830 fragile site, BrdU type, rare, fra(10)(q25.2) FRA10B Yes No GenAtlas:FRA10B, GeneCard:FRA10B, HGNC:HGNC:3830, NCBI Gene:2432 No chr10 +PA28249 2433 HGNC:3831 fragile site, BrdU type, common, fra(10)(q21) FRA10C Yes No GenAtlas:FRA10C, GeneCard:FRA10C, HGNC:HGNC:3831, NCBI Gene:2433 No chr10 +PA28250 2434 HGNC:3832 fragile site, aphidicolin type, common, fra(10)(q22.1) FRA10D Yes No GenAtlas:FRA10D, GeneCard:FRA10D, HGNC:HGNC:3832, NCBI Gene:2434 No chr10 +PA28251 2435 HGNC:3833 fragile site, aphidicolin type, common, fra(10)(q25.2) FRA10E Yes No GenAtlas:FRA10E, GeneCard:FRA10E, HGNC:HGNC:3833, NCBI Gene:2435 No chr10 +PA28252 2436 HGNC:3834 fragile site, aphidicolin type, common, fra(10)(q26.1) FRA10F Yes No GenAtlas:FRA10F, GeneCard:FRA10F, HGNC:HGNC:3834, NCBI Gene:2436 No chr10 +PA28253 2437 HGNC:3835 fragile site, aphidicolin type, common, fra(10)(q11.2) FRA10G Yes No GenAtlas:FRA10G, GeneCard:FRA10G, HGNC:HGNC:3835, NCBI Gene:2437 No chr10 +PA28254 2438 HGNC:3836 fragile site, folic acid type, rare, fra(11)(q13.3) FRA11A Yes No GenAtlas:FRA11A, GeneCard:FRA11A, HGNC:HGNC:3836, NCBI Gene:2438 No chr11 +PA28256 2440 HGNC:3838 fragile site, aphidicolin type, common, fra(11)(p15.1) FRA11C Yes No GenAtlas:FRA11C, GeneCard:FRA11C, HGNC:HGNC:3838, NCBI Gene:2440 No chr11 +PA28257 2441 HGNC:3839 fragile site, aphidicolin type, common, fra(11)(p14.2) FRA11D Yes No GenAtlas:FRA11D, GeneCard:FRA11D, HGNC:HGNC:3839, NCBI Gene:2441 No chr11 +PA28258 2442 HGNC:3840 fragile site, aphidicolin type, common, fra(11)(p13) FRA11E Yes No GenAtlas:FRA11E, GeneCard:FRA11E, HGNC:HGNC:3840, NCBI Gene:2442 No chr11 +PA28259 2443 HGNC:3841 fragile site, aphidicolin type, common, fra(11)(q14.2) FRA11F Yes No GenAtlas:FRA11F, GeneCard:FRA11F, HGNC:HGNC:3841, NCBI Gene:2443 No chr11 +PA28260 2445 HGNC:3842 fragile site, aphidicolin type, common, fra(11)(q23.3) FRA11G Yes No GenAtlas:FRA11G, GeneCard:FRA11G, HGNC:HGNC:3842, NCBI Gene:2445 No chr11 +PA28261 2446 HGNC:3843 fragile site, aphidicolin type, common, fra(11)(q13) FRA11H Yes No GenAtlas:FRA11H, GeneCard:FRA11H, HGNC:HGNC:3843, NCBI Gene:2446 No chr11 +PA28262 2447 HGNC:3844 fragile site, distamycin A type, rare, fra(11)(p15.1) FRA11I Yes No GenAtlas:FRA11I, GeneCard:FRA11I, HGNC:HGNC:3844, NCBI Gene:2447 No chr11 +PA28263 2448 HGNC:3845 fragile site, folic acid type, rare, fra(12)(q13.1) FRA12A Yes No Comparative Toxicogenomics Database:2448, GenAtlas:FRA12A, GeneCard:FRA12A, HGNC:HGNC:3845, NCBI Gene:2448, OMIM:136630 No chr12 +PA28264 2449 HGNC:3846 fragile site, aphidicolin type, common, fra(12)(q21.3) FRA12B Yes No GenAtlas:FRA12B, GeneCard:FRA12B, HGNC:HGNC:3846, NCBI Gene:2449 No chr12 +PA28265 2450 HGNC:3847 fragile site, BrdU type, rare, fra(12)(q24.2) FRA12C Yes No GenAtlas:FRA12C, GeneCard:FRA12C, HGNC:HGNC:3847, NCBI Gene:2450 No chr12 +PA28266 2451 HGNC:3848 fragile site, folic acid type, rare, fra(12)(q24.13) FRA12D Yes No GenAtlas:FRA12D, GeneCard:FRA12D, HGNC:HGNC:3848, NCBI Gene:2451 No chr12 +PA28267 2452 HGNC:3849 fragile site, aphidicolin type, common, fra(12)(q24) FRA12E Yes No GenAtlas:FRA12E, GeneCard:FRA12E, HGNC:HGNC:3849, NCBI Gene:2452 No chr12 +PA28268 2453 HGNC:3850 fragile site, aphidicolin type, common, fra(13)(q13.2) FRA13A Yes No GenAtlas:FRA13A, GeneCard:FRA13A, HGNC:HGNC:3850, NCBI Gene:2453 No chr13 +PA28269 2454 HGNC:3851 fragile site, BrdU type, common, fra(13)(q21) FRA13B Yes No GenAtlas:FRA13B, GeneCard:FRA13B, HGNC:HGNC:3851, NCBI Gene:2454 No chr13 +PA28270 2455 HGNC:3852 fragile site, aphidicolin type, common, fra(13)(q21.2) FRA13C Yes No GenAtlas:FRA13C, GeneCard:FRA13C, HGNC:HGNC:3852, NCBI Gene:2455 No chr13 +PA28271 2456 HGNC:3853 fragile site, aphidicolin type, common, fra(13)(q32) FRA13D Yes No GenAtlas:FRA13D, GeneCard:FRA13D, HGNC:HGNC:3853, NCBI Gene:2456 No chr13 +PA28272 2457 HGNC:3854 fragile site, aphidicolin type, common, fra(14)(q23) FRA14B Yes No GenAtlas:FRA14B, GeneCard:FRA14B, HGNC:HGNC:3854, NCBI Gene:2457 No chr14 +PA28273 2458 HGNC:3855 fragile site, aphidicolin type, common, fra(14)(q24.1) FRA14C Yes No GenAtlas:FRA14C, GeneCard:FRA14C, HGNC:HGNC:3855, NCBI Gene:2458 No chr14 +PA28274 2459 HGNC:3856 fragile site, aphidicolin type, common, fra(15)(q22) FRA15A Yes No GenAtlas:FRA15A, GeneCard:FRA15A, HGNC:HGNC:3856, NCBI Gene:2459 No chr15 +PA28275 2460 HGNC:3857 fragile site, folic acid type, rare, fra(16)(p13.11) FRA16A Yes No GenAtlas:FRA16A, GeneCard:FRA16A, HGNC:HGNC:3857, NCBI Gene:2460, OMIM:136570 No chr16 +PA28276 2461 HGNC:3858 fragile site, distamycin A type, rare, fra(16)(q22.1) FRA16B Yes No GenAtlas:FRA16B, GeneCard:FRA16B, HGNC:HGNC:3858, NCBI Gene:2461, OMIM:136580 No chr16 +PA28277 2462 HGNC:3859 fragile site, aphidicolin type, common, fra(16)(q22.1) FRA16C Yes No GenAtlas:FRA16C, GeneCard:FRA16C, HGNC:HGNC:3859, NCBI Gene:2462 No chr16 +PA28278 2463 HGNC:3860 fragile site, aphidicolin type, common, fra(16)(q23.2) FRA16D Yes No GenAtlas:FRA16D, GeneCard:FRA16D, HGNC:HGNC:3860, NCBI Gene:2463 No chr16 +PA28279 2464 HGNC:3861 fragile site, distamycin A type, rare, fra(16)(p12.1) FRA16E Yes No GenAtlas:FRA16E, GeneCard:FRA16E, HGNC:HGNC:3861, NCBI Gene:2464 No chr16 +PA28280 2465 HGNC:3862 fragile site, distamycin A type, rare, fra(17)(p12) FRA17A Yes No GenAtlas:FRA17A, GeneCard:FRA17A, HGNC:HGNC:3862, NCBI Gene:2465, OMIM:136660 No chr17 +PA28281 2466 HGNC:3863 fragile site, aphidicolin type, common, fra(17)(q23.1) FRA17B Yes No GenAtlas:FRA17B, GeneCard:FRA17B, HGNC:HGNC:3863, NCBI Gene:2466 No chr17 +PA28282 2467 HGNC:3864 fragile site, aphidicolin type, common, fra(18)(q12.2) FRA18A Yes No GenAtlas:FRA18A, GeneCard:FRA18A, HGNC:HGNC:3864, NCBI Gene:2467 No chr18 +PA28283 2468 HGNC:3865 fragile site, aphidicolin type, common, fra(18)(q21.3) FRA18B Yes No GenAtlas:FRA18B, GeneCard:FRA18B, HGNC:HGNC:3865, NCBI Gene:2468 No chr18 +PA28284 116710 HGNC:16929 fragile site, aphidicolin type, common, fra(18)(q22.2) FRA18C Yes No GenAtlas:FRA18C, GeneCard:FRA18C, HGNC:HGNC:16929, NCBI Gene:116710 No chr18 +PA28285 2469 HGNC:3866 fragile site, 5-azacytidine type, common, fra(19)(q13) FRA19A Yes No GenAtlas:FRA19A, GeneCard:FRA19A, HGNC:HGNC:3866, NCBI Gene:2469 No chr19 +PA28286 2470 HGNC:3867 fragile site, folic acid type, rare, fra(19)(p13) FRA19B Yes No GenAtlas:FRA19B, GeneCard:FRA19B, HGNC:HGNC:3867, NCBI Gene:2470 No chr19 +PA28287 2360 HGNC:3868 fragile site, aphidicolin type, common, fra(1)(p36) FRA1A Yes No GenAtlas:FRA1A, GeneCard:FRA1A, HGNC:HGNC:3868, NCBI Gene:2360 No chr1 +PA28288 2361 HGNC:3869 fragile site, aphidicolin type, common, fra(1)(p32) FRA1B Yes No GenAtlas:FRA1B, GeneCard:FRA1B, HGNC:HGNC:3869, NCBI Gene:2361 No chr1 +PA28289 2362 HGNC:3870 fragile site, aphidicolin type, common, fra(1)(p31.2) FRA1C Yes No GenAtlas:FRA1C, GeneCard:FRA1C, HGNC:HGNC:3870, NCBI Gene:2362 No chr1 +PA28290 2363 HGNC:3871 fragile site, aphidicolin type, common, fra(1)(p22) FRA1D Yes No GenAtlas:FRA1D, GeneCard:FRA1D, HGNC:HGNC:3871, NCBI Gene:2363 No chr1 +PA28291 2364 HGNC:3872 fragile site, aphidicolin type, common, fra(1)(p21.2) FRA1E Yes No GenAtlas:FRA1E, GeneCard:FRA1E, HGNC:HGNC:3872, NCBI Gene:2364 No chr1 +PA28292 2365 HGNC:3873 fragile site, aphidicolin type, common, fra(1)(q21) FRA1F Yes No GenAtlas:FRA1F, GeneCard:FRA1F, HGNC:HGNC:3873, NCBI Gene:2365 No chr1 +PA28293 2366 HGNC:3874 fragile site, aphidicolin type, common, fra(1)(q25.1) FRA1G Yes No GenAtlas:FRA1G, GeneCard:FRA1G, HGNC:HGNC:3874, NCBI Gene:2366 No chr1 +PA28294 2367 HGNC:3875 fragile site, 5-azacytidine type, common, fra(1)(q42) FRA1H Yes No GenAtlas:FRA1H, GeneCard:FRA1H, HGNC:HGNC:3875, NCBI Gene:2367 No chr1 +PA28295 2368 HGNC:3876 fragile site, aphidicolin type, common, fra(1)(q44) FRA1I Yes No GenAtlas:FRA1I, GeneCard:FRA1I, HGNC:HGNC:3876, NCBI Gene:2368 No chr1 +PA28296 2369 HGNC:3877 fragile site, 5-azacytidine type, common, fra(1)(q12) FRA1J Yes No GenAtlas:FRA1J, GeneCard:FRA1J, HGNC:HGNC:3877, NCBI Gene:2369 No chr1 +PA28297 2370 HGNC:3878 fragile site, aphidicolin type, common, fra(1)(q31) FRA1K Yes No GenAtlas:FRA1K, GeneCard:FRA1K, HGNC:HGNC:3878, NCBI Gene:2370 No chr1 +PA28298 2371 HGNC:3879 fragile site, aphidicolin type, common, fra(1)(p31) FRA1L Yes No GenAtlas:FRA1L, GeneCard:FRA1L, HGNC:HGNC:3879, NCBI Gene:2371 No chr1 +PA28299 2372 HGNC:3880 fragile site, folic acid type, rare, fra(1)(p21.3) FRA1M Yes No GenAtlas:FRA1M, GeneCard:FRA1M, HGNC:HGNC:3880, NCBI Gene:2372 No chr1 +PA28300 2471 HGNC:3881 fragile site, folic acid type, rare, fra(20)(p11.23) FRA20A Yes No GenAtlas:FRA20A, GeneCard:FRA20A, HGNC:HGNC:3881, NCBI Gene:2471, OMIM:136590 No chr20 +PA28301 2472 HGNC:3882 fragile site, aphidicolin type, common, fra(20)(p12.2) FRA20B Yes No GenAtlas:FRA20B, GeneCard:FRA20B, HGNC:HGNC:3882, NCBI Gene:2472 No chr20 +PA28302 2473 HGNC:3883 fragile site, folic acid type, rare, fra(22)(q13) FRA22A Yes No GenAtlas:FRA22A, GeneCard:FRA22A, HGNC:HGNC:3883, NCBI Gene:2473 No chr22 +PA28303 2474 HGNC:3884 fragile site, aphidicolin type, common, fra(22)(q12.2) FRA22B Yes No GenAtlas:FRA22B, GeneCard:FRA22B, HGNC:HGNC:3884, NCBI Gene:2474 No chr22 +PA28304 2373 HGNC:3885 fragile site, folic acid type, rare, fra(2)(q11.2) FRA2A Yes No GenAtlas:FRA2A, GeneCard:FRA2A, HGNC:HGNC:3885, NCBI Gene:2373, OMIM:136610 No chr2 +PA28305 2374 HGNC:3886 fragile site, folic acid type, rare, fra(2)(q13) FRA2B Yes No GenAtlas:FRA2B, GeneCard:FRA2B, HGNC:HGNC:3886, NCBI Gene:2374 No chr2 +PA28306 2375 HGNC:3887 fragile site, aphidicolin type, common, fra(2)(p24.2) FRA2C Yes No GenAtlas:FRA2C, GeneCard:FRA2C, HGNC:HGNC:3887, NCBI Gene:2375 No chr2 +PA28307 2376 HGNC:3888 fragile site, aphidicolin type, common, fra(2)(p16.2) FRA2D Yes No GenAtlas:FRA2D, GeneCard:FRA2D, HGNC:HGNC:3888, NCBI Gene:2376 No chr2 +PA28308 2377 HGNC:3889 fragile site, aphidicolin type, common, fra(2)(p13) FRA2E Yes No GenAtlas:FRA2E, GeneCard:FRA2E, HGNC:HGNC:3889, NCBI Gene:2377 No chr2 +PA28309 2378 HGNC:3890 fragile site, aphidicolin type, common, fra(2)(q21.3) FRA2F Yes No GenAtlas:FRA2F, GeneCard:FRA2F, HGNC:HGNC:3890, NCBI Gene:2378 No chr2 +PA28310 2379 HGNC:3891 fragile site, aphidicolin type, common, fra(2)(q31) FRA2G Yes No GenAtlas:FRA2G, GeneCard:FRA2G, HGNC:HGNC:3891, NCBI Gene:2379 No chr2 +PA28311 2380 HGNC:3892 fragile site, aphidicolin type, common, fra(2)(q32.1) FRA2H Yes No GenAtlas:FRA2H, GeneCard:FRA2H, HGNC:HGNC:3892, NCBI Gene:2380 No chr2 +PA28312 2381 HGNC:3893 fragile site, aphidicolin type, common, fra(2)(q33) FRA2I Yes No GenAtlas:FRA2I, GeneCard:FRA2I, HGNC:HGNC:3893, NCBI Gene:2381 No chr2 +PA28313 2382 HGNC:3894 fragile site, aphidicolin type, common, fra(2)(q37.3) FRA2J Yes No GenAtlas:FRA2J, GeneCard:FRA2J, HGNC:HGNC:3894, NCBI Gene:2382 No chr2 +PA28314 2383 HGNC:3895 fragile site, folic acid type, rare, fra(2)(q22.3) FRA2K Yes No GenAtlas:FRA2K, GeneCard:FRA2K, HGNC:HGNC:3895, NCBI Gene:2383 No chr2 +PA28315 2384 HGNC:3896 fragile site, aphidicolin type, common, fra(3)(p24.2) FRA3A Yes No GenAtlas:FRA3A, GeneCard:FRA3A, HGNC:HGNC:3896, NCBI Gene:2384 No chr3 +PA28317 2386 HGNC:3898 fragile site, aphidicolin type, common, fra(3)(q27) FRA3C Yes No GenAtlas:FRA3C, GeneCard:FRA3C, HGNC:HGNC:3898, NCBI Gene:2386 No chr3 +PA28318 2387 HGNC:3899 fragile site, aphidicolin type, common, fra(3)(q25) FRA3D Yes No GenAtlas:FRA3D, GeneCard:FRA3D, HGNC:HGNC:3899, NCBI Gene:2387 No chr3 +PA28319 2388 HGNC:3900 fragile site, aphidicolin type, common, fra(4)(p16.1) FRA4A Yes No GenAtlas:FRA4A, GeneCard:FRA4A, HGNC:HGNC:3900, NCBI Gene:2388 No chr4 +PA28320 2389 HGNC:3901 fragile site, BrdU type, common, fra(4)(q12) FRA4B Yes No GenAtlas:FRA4B, GeneCard:FRA4B, HGNC:HGNC:3901, NCBI Gene:2389 No chr4 +PA28321 2390 HGNC:3902 fragile site, aphidicolin type, common, fra(4)(q31.1) FRA4C Yes No GenAtlas:FRA4C, GeneCard:FRA4C, HGNC:HGNC:3902, NCBI Gene:2390 No chr4 +PA28322 2391 HGNC:3903 fragile site, aphidicolin type, common, fra(4)(p15) FRA4D Yes No GenAtlas:FRA4D, GeneCard:FRA4D, HGNC:HGNC:3903, NCBI Gene:2391 No chr4 +PA28324 2393 HGNC:3905 fragile site, BrdU type, common, fra(5)(p13) FRA5A Yes No GenAtlas:FRA5A, GeneCard:FRA5A, HGNC:HGNC:3905, NCBI Gene:2393 No chr5 +PA28325 2394 HGNC:3906 fragile site, BrdU type, common, fra(5)(q15) FRA5B Yes No GenAtlas:FRA5B, GeneCard:FRA5B, HGNC:HGNC:3906, NCBI Gene:2394 No chr5 +PA28326 2396 HGNC:3907 fragile site, aphidicolin type, common, fra(5)(q31.1) FRA5C Yes No GenAtlas:FRA5C, GeneCard:FRA5C, HGNC:HGNC:3907, NCBI Gene:2396 No chr5 +PA28327 2397 HGNC:3908 fragile site, aphidicolin type, common, fra(5)(q15) FRA5D Yes No GenAtlas:FRA5D, GeneCard:FRA5D, HGNC:HGNC:3908, NCBI Gene:2397 No chr5 +PA28328 2398 HGNC:3909 fragile site, aphidicolin type, common, fra(5)(p14) FRA5E Yes No GenAtlas:FRA5E, GeneCard:FRA5E, HGNC:HGNC:3909, NCBI Gene:2398 No chr5 +PA28329 2399 HGNC:3910 fragile site, aphidicolin type, common, fra(5)(q21) FRA5F Yes No GenAtlas:FRA5F, GeneCard:FRA5F, HGNC:HGNC:3910, NCBI Gene:2399 No chr5 +PA28330 2400 HGNC:3911 fragile site, folic acid type, rare, fra(5)(q35) FRA5G Yes No GenAtlas:FRA5G, GeneCard:FRA5G, HGNC:HGNC:3911, NCBI Gene:2400 No chr5 +PA28331 2401 HGNC:3912 fragile site, folic acid type, rare, fra(6)(p23) FRA6A Yes No GenAtlas:FRA6A, GeneCard:FRA6A, HGNC:HGNC:3912, NCBI Gene:2401 No chr6 +PA28332 2402 HGNC:3913 fragile site, aphidicolin type, common, fra(6)(p25.1) FRA6B Yes No GenAtlas:FRA6B, GeneCard:FRA6B, HGNC:HGNC:3913, NCBI Gene:2402 No chr6 +PA28333 2403 HGNC:3914 fragile site, aphidicolin type, common, fra(6)(p22.2) FRA6C Yes No GenAtlas:FRA6C, GeneCard:FRA6C, HGNC:HGNC:3914, NCBI Gene:2403 No chr6 +PA28334 2404 HGNC:3915 fragile site, BrdU type, common, fra(6)(q13) FRA6D Yes No GenAtlas:FRA6D, GeneCard:FRA6D, HGNC:HGNC:3915, NCBI Gene:2404 No chr6 +PA28335 2405 HGNC:3916 fragile site, aphidicolin type, common, fra(6)(q26) FRA6E Yes No GenAtlas:FRA6E, GeneCard:FRA6E, HGNC:HGNC:3916, NCBI Gene:2405 No chr6 +PA28336 2406 HGNC:3917 fragile site, aphidicolin type, common, fra(6)(q21) FRA6F Yes No GenAtlas:FRA6F, GeneCard:FRA6F, HGNC:HGNC:3917, NCBI Gene:2406 No chr6 +PA28337 2407 HGNC:3918 fragile site, aphidicolin type, common, fra(6)(q15) FRA6G Yes No GenAtlas:FRA6G, GeneCard:FRA6G, HGNC:HGNC:3918, NCBI Gene:2407 No chr6 +PA28338 2408 HGNC:3919 fragile site, folic acid type, rare, fra(7)(p11.2) FRA7A Yes No GenAtlas:FRA7A, GeneCard:FRA7A, HGNC:HGNC:3919, NCBI Gene:2408 No chr7 +PA28339 2409 HGNC:3920 fragile site, aphidicolin type, common, fra(7)(p22) FRA7B Yes No GenAtlas:FRA7B, GeneCard:FRA7B, HGNC:HGNC:3920, NCBI Gene:2409 No chr7 +PA28340 2410 HGNC:3921 fragile site, aphidicolin type, common, fra(7)(p14.2) FRA7C Yes No GenAtlas:FRA7C, GeneCard:FRA7C, HGNC:HGNC:3921, NCBI Gene:2410 No chr7 +PA28341 2411 HGNC:3922 fragile site, aphidicolin type, common, fra(7)(p13) FRA7D Yes No GenAtlas:FRA7D, GeneCard:FRA7D, HGNC:HGNC:3922, NCBI Gene:2411 No chr7 +PA28342 2412 HGNC:3923 fragile site, aphidicolin type, common, fra(7)(q21.2) FRA7E Yes No GenAtlas:FRA7E, GeneCard:FRA7E, HGNC:HGNC:3923, NCBI Gene:2412 No chr7 +PA28343 2413 HGNC:3924 fragile site, aphidicolin type, common, fra(7)(q22) FRA7F Yes No GenAtlas:FRA7F, GeneCard:FRA7F, HGNC:HGNC:3924, NCBI Gene:2413 No chr7 +PA28344 2414 HGNC:3925 fragile site, aphidicolin type, common, fra(7)(q31.2) FRA7G D7S486 Yes No GenAtlas:FRA7G, GeneCard:FRA7G, HGNC:HGNC:3925, NCBI Gene:2414 No chr7 +PA28345 2415 HGNC:3926 fragile site, aphidicolin type, common, fra(7)(q32.3) FRA7H Yes No GenAtlas:FRA7H, GeneCard:FRA7H, HGNC:HGNC:3926, NCBI Gene:2415 No chr7 +PA28346 2416 HGNC:3927 fragile site, aphidicolin type, common, fra(7)(q36) FRA7I Yes No GenAtlas:FRA7I, GeneCard:FRA7I, HGNC:HGNC:3927, NCBI Gene:2416 No chr7 +PA28347 2417 HGNC:3928 fragile site, aphidicolin type, common, fra(7)(q11) FRA7J Yes No GenAtlas:FRA7J, GeneCard:FRA7J, HGNC:HGNC:3928, NCBI Gene:2417 No chr7 +PA28348 2418 HGNC:3929 fragile site, folic acid type, rare, fra(8)(q22.3) FRA8A Yes No GenAtlas:FRA8A, GeneCard:FRA8A, HGNC:HGNC:3929, NCBI Gene:2418 No chr8 +PA28349 2419 HGNC:3930 fragile site, aphidicolin type, common, fra(8)(q22.1) FRA8B Yes No GenAtlas:FRA8B, GeneCard:FRA8B, HGNC:HGNC:3930, NCBI Gene:2419 No chr8 +PA28350 2421 HGNC:3931 fragile site, aphidicolin type, common, fra(8)(q24.1) FRA8C Yes No GenAtlas:FRA8C, GeneCard:FRA8C, HGNC:HGNC:3931, NCBI Gene:2421 No chr8 +PA28351 2422 HGNC:3932 fragile site, aphidicolin type, common, fra(8)(q24.3) FRA8D Yes No GenAtlas:FRA8D, GeneCard:FRA8D, HGNC:HGNC:3932, NCBI Gene:2422 No chr8 +PA28352 2423 HGNC:3933 fragile site, distamycin A type, rare, fra(8)(q24.1) FRA8E Yes No GenAtlas:FRA8E, GeneCard:FRA8E, HGNC:HGNC:3933, NCBI Gene:2423 No chr8 +PA28354 2425 HGNC:3935 fragile site, folic acid type, rare, fra(9)(p21) FRA9A Yes No GenAtlas:FRA9A, GeneCard:FRA9A, HGNC:HGNC:3935, NCBI Gene:2425 No chr9 +PA28355 2426 HGNC:3936 fragile site, folic acid type, rare, fra(9)(q32) FRA9B Yes No GenAtlas:FRA9B, GeneCard:FRA9B, HGNC:HGNC:3936, NCBI Gene:2426, OMIM:136640 No chr9 +PA28356 2427 HGNC:3937 fragile site, BrdU type, common, fra(9)(p21) FRA9C Yes No GenAtlas:FRA9C, GeneCard:FRA9C, HGNC:HGNC:3937, NCBI Gene:2427 No chr9 +PA28357 2428 HGNC:3938 fragile site, aphidicolin type, common, fra(9)(q22.1) FRA9D Yes No GenAtlas:FRA9D, GeneCard:FRA9D, HGNC:HGNC:3938, NCBI Gene:2428 No chr9 +PA28358 2429 HGNC:3939 fragile site, aphidicolin type, common, fra(9)(q32) FRA9E Yes No GenAtlas:FRA9E, GeneCard:FRA9E, HGNC:HGNC:3939, NCBI Gene:2429 No chr9 +PA28359 2430 HGNC:3940 fragile site, 5-azacytidine type, common, fra(9)(q12) FRA9F Yes No GenAtlas:FRA9F, GeneCard:FRA9F, HGNC:HGNC:3940, NCBI Gene:2430 No chr9 +PA134980133 80144 HGNC:19185 ENSG00000138759 Fraser extracellular matrix complex subunit 1 FRAS1 Fraser syndrome 1 FLJ14927, FLJ22031, KIAA1500 Yes Yes Comparative Toxicogenomics Database:80144, Ensembl:ENSG00000138759, GeneCard:FRAS1, HGNC:HGNC:19185, HumanCyc Gene:HS14610, ModBase:Q86XX4, NCBI Gene:80144, OMIM:219000, OMIM:607830, RefSeq DNA:NG_015812, RefSeq DNA:NT_016354, RefSeq Protein:NP_001159605, RefSeq Protein:NP_079350, RefSeq RNA:NM_001166133, RefSeq RNA:NM_025074, UniProtKB:A2RRR8, UniProtKB:Q86XX4 No chr4 78978724 79465423 78057323 78544269 +PA28361 10023 HGNC:3944 ENSG00000165879 FRAT regulator of WNT signaling pathway 1 FRAT1 """FRAT1, WNT signaling pathway regulator"", ""frequently rearranged in advanced T-cell lymphomas"", ""frequently rearranged in advanced T-cell lymphomas 1""" Yes No Ensembl:ENSG00000165879, GenAtlas:FRAT1, GeneCard:FRAT1, HGNC:HGNC:3944, HumanCyc Gene:HS09296, ModBase:Q92837, NCBI Gene:10023, OMIM:602503, RefSeq DNA:NT_030059, RefSeq Protein:NP_005470, RefSeq RNA:NM_005479, UCSC Genome Browser:NM_005479, UniProtKB:Q92837 No chr10 99079022 99081672 97319265 97321915 +PA28362 23401 HGNC:16048 ENSG00000181274 FRAT regulator of WNT signaling pathway 2 FRAT2 """FRAT2, WNT signaling pathway regulator"", ""GSK-3 binding protein FRAT2"", ""frequently rearranged in advanced T-cell lymphomas 2""" Yes No Comparative Toxicogenomics Database:23401, Ensembl:ENSG00000181274, GenAtlas:FRAT2, GeneCard:FRAT2, HGNC:HGNC:16048, HumanCyc Gene:HS11599, ModBase:O75474, NCBI Gene:23401, OMIM:605006, RefSeq DNA:NT_030059, RefSeq Protein:NP_036215, RefSeq RNA:NM_012083, UCSC Genome Browser:NM_012083, UniProtKB:O75474 No chr10 99092254 99094458 97332497 97334701 +PA28363 2477 HGNC:3945 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) FRAXA Yes No GenAtlas:FRAXA, GeneCard:FRAXA, HGNC:HGNC:3945, NCBI Gene:2477 No chrX +PA28364 2478 HGNC:3946 fragile site, aphidicolin type, common, fra(X)(p22.31) B FRAXB Yes No GenAtlas:FRAXB, GeneCard:FRAXB, HGNC:HGNC:3946, NCBI Gene:2478 No chrX +PA28365 2479 HGNC:3947 fragile site, aphidicolin type, common, fra(X)(q22.1) C FRAXC Yes No GenAtlas:FRAXC, GeneCard:FRAXC, HGNC:HGNC:3947, NCBI Gene:2479 No chrX +PA28366 2480 HGNC:3948 fragile site, aphidicolin type, common, fra(X)(q27.2) D FRAXD Yes No GenAtlas:FRAXD, GeneCard:FRAXD, HGNC:HGNC:3948, NCBI Gene:2480 No chrX +PA28367 2481 HGNC:3949 fragile site, folic acid type, rare, fra(X)(q28) E FRAXE Yes No GenAtlas:FRAXE, GeneCard:FRAXE, HGNC:HGNC:3949, NCBI Gene:2481 No chrX +PA134892147 158326 HGNC:23399 ENSG00000164946 FRAS1 related extracellular matrix 1 FREM1 C9orf143, C9orf145, C9orf154, DKFZp686M16108, FLJ25461, TILRR Yes No Ensembl:ENSG00000164946, GeneCard:FREM1, HGNC:HGNC:23399, HumanCyc Gene:HS09165, ModBase:Q5H8C1, NCBI Gene:158326, OMIM:608944, OMIM:608980, RefSeq DNA:NG_017005, RefSeq DNA:NT_008413, RefSeq Protein:NP_001171175, RefSeq Protein:NP_659403, RefSeq RNA:NM_001177704, RefSeq RNA:NM_144966, UniProtKB:B7ZBX4, UniProtKB:Q5H8C1 No chr9 14734664 14910993 14734666 14911653 +PA134930862 341640 HGNC:25396 ENSG00000150893 FRAS1 related extracellular matrix 2 FREM2 FRAS1 related extracellular matrix protein 2 DKFZp686J0811 Yes No Comparative Toxicogenomics Database:341640, Ensembl:ENSG00000150893, GeneCard:FREM2, HGNC:HGNC:25396, ModBase:Q5SZK8, NCBI Gene:341640, OMIM:219000, OMIM:608945, RefSeq DNA:NG_008125, RefSeq DNA:NT_024524, RefSeq Protein:NP_997244, RefSeq RNA:NM_207361, UniProtKB:Q5SZK8 No chr13 39261173 39461268 38687036 38887131 +PA134941914 166752 HGNC:25172 ENSG00000183090 FRAS1 related extracellular matrix 3 FREM3 Yes No Ensembl:ENSG00000183090, GeneCard:FREM3, HGNC:HGNC:25172, NCBI Gene:166752, OMIM:608946, RefSeq DNA:NT_016354, RefSeq Protein:NP_001161707, RefSeq Protein:XP_001127662, RefSeq Protein:XP_001720708, RefSeq Protein:XP_094074, RefSeq RNA:NM_001168235, RefSeq RNA:XM_001127662, RefSeq RNA:XM_001720656, RefSeq RNA:XM_094074 No chr4 144498560 144621828 143577407 143700675 +PA165543255 143678 HGNC:37213 ENSG00000234776 Frey regulator of sperm-oocyte fusion 1 FREY1 chromosome 11 open reading frame 94 C11orf94, Frey Yes No Ensembl:ENSG00000234776, GeneCard:C11orf94, HGNC:HGNC:37213, NCBI Gene:143678, RefSeq DNA:NT_009237, RefSeq Protein:NP_001073915, RefSeq RNA:NM_001080446, UniProtKB:C9JXX5 No chr11 45928085 45928833 45906534 45907282 +PA28372 2483 HGNC:3954 ENSG00000109536 FSHD region gene 1 FRG1 FRG1A, FSG1 Yes No Ensembl:ENSG00000109536, GenAtlas:FRG1, GeneCard:FRG1, HGNC:HGNC:3954, HumanCyc Gene:HS03237, ModBase:Q14331, NCBI Gene:2483, OMIM:601278, RefSeq DNA:NG_008142, RefSeq DNA:NT_016354, RefSeq Protein:NP_004468, RefSeq RNA:NM_004477, UCSC Genome Browser:NM_004477, UniProtKB:Q14331 No chr4 190861974 190884360 189940819 189963204 +PA162388919 448831 HGNC:19136 ENSG00000148828, ENSG00000205097 FSHD region gene 2 FRG2 FRG2A Yes No Ensembl:ENSG00000148828, Ensembl:ENSG00000205097, GeneCard:FRG2, HGNC:HGNC:19136, ModBase:Q64ET8, NCBI Gene:448831, OMIM:609032, RefSeq DNA:NT_016354, RefSeq Protein:NP_001005217, RefSeq RNA:NM_001005217, UniProtKB:Q64ET8 No chr4 190945522 190948412 190024367 190027257 +PA162388920 441581 HGNC:33518 ENSG00000225899 FSHD region gene 2 family member B FRG2B FSHD region gene 2 family, member B Yes No Ensembl:ENSG00000225899, GeneCard:FRG2B, HGNC:HGNC:33518, ModBase:Q96QU4, NCBI Gene:441581, RefSeq DNA:NT_008818, RefSeq Protein:NP_001074467, RefSeq RNA:NM_001080998, UniProtKB:Q96QU4 No chr10 135438603 135440299 133625099 133626795 +PA162388921 100288801 HGNC:33626 ENSG00000172969 FSHD region gene 2 family member C FRG2C FSHD region gene 2 family, member C Yes No Ensembl:ENSG00000172969, GeneCard:FRG2C, HGNC:HGNC:33626, ModBase:A6NGY1, NCBI Gene:100288801, RefSeq DNA:NT_022459, RefSeq Protein:NP_001118231, RefSeq Protein:XP_002342402, RefSeq RNA:NM_001124759, RefSeq RNA:XM_002342361, UniProtKB:A6NGY1 No chr3 75713487 75716368 75646761 75667217 +PA28373 2444 HGNC:3955 ENSG00000111816 fyn related Src family tyrosine kinase FRK fyn-related Src family tyrosine kinase, fyn-related kinase GTK, PTK5, RAK Yes No Comparative Toxicogenomics Database:2444, Ensembl:ENSG00000111816, GenAtlas:FRK, GeneCard:FRK, HGNC:HGNC:3955, HumanCyc Gene:HS03471, ModBase:P42685, NCBI Gene:2444, OMIM:606573, RefSeq DNA:NT_025741, RefSeq Protein:NP_002022, RefSeq RNA:NM_002031, UCSC Genome Browser:NM_002031, UniProtKB:P42685 No chr6 116262691 116397360 115941031 116100739 +PA134993010 79981 HGNC:21240 ENSG00000153303 FERM domain containing 1 FRMD1 DKFZp434O0117, FLJ00181, FLJ22615, FLJ40260, bA164L23.1 Yes No Ensembl:ENSG00000153303, GeneCard:FRMD1, HGNC:HGNC:21240, HumanCyc Gene:HS07903, ModBase:Q8N878, NCBI Gene:79981, RefSeq DNA:NT_025741, RefSeq Protein:NP_001116313, RefSeq Protein:NP_079195, RefSeq RNA:NM_001122841, RefSeq RNA:NM_024919, UniProtKB:B3KUM6, UniProtKB:Q8N878 No chr6 168456425 168482237 168055745 168093007 +PA134903920 257019 HGNC:24125 ENSG00000172159 FERM domain containing 3 FRMD3 EPB41L4O, MGC20553 Yes No Ensembl:ENSG00000172159, GeneCard:FRMD3, HGNC:HGNC:24125, ModBase:Q8N3Y5, NCBI Gene:257019, OMIM:607619, RefSeq DNA:NT_008470, RefSeq Protein:NP_777598, RefSeq RNA:NM_174938, UniProtKB:A2A2Y4 No chr9 85857905 86153348 83242990 83560208 +PA134946784 55691 HGNC:25491 ENSG00000151474 FERM domain containing 4A FRMD4A FLJ10210, FRMD4, KIAA1294, bA295P9.4 Yes No Comparative Toxicogenomics Database:55691, Ensembl:ENSG00000151474, GeneCard:FRMD4A, HGNC:HGNC:25491, HumanCyc Gene:HS07738, ModBase:Q9P2Q2, NCBI Gene:55691, RefSeq DNA:NT_008705, RefSeq Protein:NP_060497, RefSeq RNA:NM_018027, UniProtKB:Q9P2Q2 No chr10 13685706 14372866 13643706 14330952 +PA128394605 23150 HGNC:24886 ENSG00000114541 FERM domain containing 4B FRMD4B GRSP1, KIAA1013 Yes No Comparative Toxicogenomics Database:23150, Ensembl:ENSG00000114541, GeneCard:FRMD4B, HGNC:HGNC:24886, ModBase:Q9Y2L6, NCBI Gene:23150, RefSeq DNA:NT_022459, RefSeq Protein:NP_055938, RefSeq RNA:NM_015123, UniProtKB:B3KNA2, UniProtKB:Q2TB00, UniProtKB:Q9Y2L6 No chr3 69219146 69435430 69168782 69541340 +PA142671751 84978 HGNC:28214 ENSG00000171877 FERM domain containing 5 FRMD5 MGC14161 Yes No Comparative Toxicogenomics Database:84978, Ensembl:ENSG00000171877, GeneCard:FRMD5, HGNC:HGNC:28214, HumanCyc Gene:HS16034, ModBase:Q7Z6J6, NCBI Gene:84978, RefSeq DNA:NT_010194, RefSeq Protein:NP_116281, RefSeq RNA:NM_032892, UniProtKB:Q7Z6J6 No chr15 44162962 44487429 43870761 44195294 +PA134913028 122786 HGNC:19839 ENSG00000139926 FERM domain containing 6 FRMD6 expanded homolog C14orf31, EX1, MGC17921, willin Yes No Comparative Toxicogenomics Database:122786, Ensembl:ENSG00000139926, GeneCard:FRMD6, HGNC:HGNC:19839, HumanCyc Gene:HS06669, ModBase:Q96NE9, NCBI Gene:122786, RefSeq DNA:NT_026437, RefSeq Protein:NP_001035946, RefSeq Protein:NP_689543, RefSeq RNA:NM_001042481, RefSeq RNA:NM_152330, UniProtKB:Q96NE9 No chr14 51955819 52197445 51489100 51730727 +PA134877599 145438 HGNC:20129 ENSG00000273888 FRMD6 antisense RNA 1 FRMD6-AS1 Yes No Ensembl:ENSG00000273888, GeneCard:C14orf82, HGNC:HGNC:20129, ModBase:P0C7T7, NCBI Gene:145438, RefSeq DNA:NT_026437, RefSeq Protein:XP_001716561, RefSeq Protein:XP_498578, RefSeq Protein:XP_950084, RefSeq RNA:NR_037676, RefSeq RNA:XM_001716509, RefSeq RNA:XM_498578, RefSeq RNA:XM_944991 No chr14 52116234 52118462 51649516 51651744 +PA162388934 90167 HGNC:8079 ENSG00000165694 FERM domain containing 7 FRMD7 FLJ43346, NYS, NYS1 Yes No Ensembl:ENSG00000165694, GeneCard:FRMD7, HGNC:HGNC:8079, ModBase:Q6ZUT3, NCBI Gene:90167, OMIM:300628, OMIM:310700, RefSeq DNA:NG_012347, RefSeq DNA:NT_011786, RefSeq Protein:NP_919253, RefSeq RNA:NM_194277, UniProtKB:Q6ZUT3 No chrX 131211021 131262050 132076986 132128022 +PA162388963 83786 HGNC:25462 ENSG00000126391 FERM domain containing 8 FRMD8 iRhom Tail-Associated Protein FKSG44, FLJ90369, iTAP Yes No Ensembl:ENSG00000126391, GeneCard:FRMD8, HGNC:HGNC:25462, HumanCyc Gene:HS05015, ModBase:Q9BZ67, NCBI Gene:83786, RefSeq DNA:NT_167190, RefSeq Protein:NP_114110, RefSeq RNA:NM_031904, UniProtKB:Q9BZ67 No chr11 65154041 65180996 65386570 65413525 +PA134910182 22844 HGNC:29159 ENSG00000070601 FERM and PDZ domain containing 1 FRMPD1 FRMD2, KIAA0967 Yes No Ensembl:ENSG00000070601, GeneCard:FRMPD1, HGNC:HGNC:29159, HumanCyc Gene:HS00999, ModBase:Q5SYB0, NCBI Gene:22844, RefSeq DNA:NT_008413, RefSeq Protein:NP_055722, RefSeq RNA:NM_014907, UniProtKB:Q5SYB0 No chr9 37651052 37746901 37602979 37746904 +PA134947461 143162 HGNC:28572 ENSG00000170324 FERM and PDZ domain containing 2 FRMPD2 MGC35285, PDZD5C, PDZK5C Yes No Ensembl:ENSG00000170324, GeneCard:FRMPD2, HGNC:HGNC:28572, HumanCyc Gene:HS10103, ModBase:Q68DX3, NCBI Gene:143162, OMIM:613323, RefSeq DNA:NT_030059, RefSeq Protein:NP_001017929, RefSeq Protein:NP_001018081, RefSeq Protein:NP_001035977, RefSeq Protein:NP_689641, RefSeq RNA:NM_001017929, RefSeq RNA:NM_001018071, RefSeq RNA:NM_001042512, RefSeq RNA:NM_152428, RefSeq RNA:NR_033178, UniProtKB:Q68DX3 No chr10 49364602 49482941 48156559 48274898 +PA143485474 84443 HGNC:29382 ENSG00000147234 FERM and PDZ domain containing 3 FRMPD3 KIAA1817, RP5-1070B1.1 Yes No Ensembl:ENSG00000147234, GeneCard:FRMPD3, HGNC:HGNC:29382, NCBI Gene:84443, RefSeq DNA:NT_011651, RefSeq Protein:XP_001714433, RefSeq Protein:XP_042978, RefSeq Protein:XP_942100, RefSeq RNA:XM_001714381, RefSeq RNA:XM_042978, RefSeq RNA:XM_937007, UniProtKB:Q5JV73 No chrX 106769819 106848474 107522450 107605264 +PA134977575 9758 HGNC:29007 ENSG00000169933 FERM and PDZ domain containing 4 FRMPD4 KIAA0316, PDZD10, PDZK10 Yes No Ensembl:ENSG00000169933, GeneCard:FRMPD4, HGNC:HGNC:29007, NCBI Gene:9758, RefSeq DNA:NG_016419, RefSeq DNA:NT_167197, RefSeq Protein:NP_055543, RefSeq RNA:NM_014728, UniProtKB:Q14CM0 No chrX 12156585 12742642 12137329 12724523 +PA142670941 391059 HGNC:27622 ENSG00000156869 ferric chelate reductase 1 FRRS1 ferric-chelate reductase 1 SDFR2, SDR2 Yes No Comparative Toxicogenomics Database:391059, Ensembl:ENSG00000156869, GeneCard:FRRS1, HGNC:HGNC:27622, NCBI Gene:391059, OMIM:611578, RefSeq DNA:NT_032977, RefSeq Protein:NP_001013682, RefSeq RNA:NM_001013660, UniProtKB:Q6ZNA5 No chr1 100174206 100232186 99708699 99766630 +PA25979 23732 HGNC:1362 ENSG00000260230 ferric chelate reductase 1 like FRRS1L ferric-chelate reductase 1-like C9orf4, CG-6 Yes No Ensembl:ENSG00000260230, GenAtlas:C9orf4, GeneCard:C9orf4, HGNC:HGNC:1362, HumanCyc Gene:HS06212, NCBI Gene:23732, OMIM:604574, RefSeq DNA:NT_008470, RefSeq Protein:NP_055149, RefSeq RNA:NM_014334, UniProtKB:Q9P0K9 No chr9 111899581 111929571 109136188 109167291 +PA134850063 10818 HGNC:16971 ENSG00000166225 fibroblast growth factor receptor substrate 2 FRS2 FRS2A, FRS2alpha, SNT-1, SNT1 Yes No Ensembl:ENSG00000166225, GeneCard:FRS2, HGNC:HGNC:16971, HumanCyc Gene:HS09358, ModBase:Q8WU20, NCBI Gene:10818, OMIM:607743, RefSeq DNA:NT_029419, RefSeq Protein:NP_001036020, RefSeq Protein:NP_006645, RefSeq RNA:NM_001042555, RefSeq RNA:NM_006654, UniProtKB:Q8WU20 No chr12 69864129 69973573 69470349 69579793 +PA134961503 10817 HGNC:16970 ENSG00000137218 fibroblast growth factor receptor substrate 3 FRS3 FRS2B, FRS2beta, SNT-2 Yes No Comparative Toxicogenomics Database:10817, Ensembl:ENSG00000137218, GeneCard:FRS3, HGNC:HGNC:16970, HumanCyc Gene:HS06294, ModBase:O43559, NCBI Gene:10817, OMIM:607744, RefSeq DNA:NT_007592, RefSeq Protein:NP_006644, RefSeq RNA:NM_006653, UniProtKB:O43559 No chr6 41737914 41747643 41770176 41779905 +PA134927490 10129 HGNC:20367 ENSG00000073910 FRY microtubule binding protein FRY furry homolog (Drosophila) 13CDNA73, C13orf14, CG003, bA37E23.1 Yes No Comparative Toxicogenomics Database:10129, Ensembl:ENSG00000073910, GeneCard:FRY, HGNC:HGNC:20367, HumanCyc Gene:HS01122, ModBase:Q5TBA9, NCBI Gene:10129, RefSeq DNA:NT_024524, RefSeq Protein:NP_075463, RefSeq RNA:NM_023037, UniProtKB:Q5TBA9 No chr13 32605269 32870794 32029742 32299122 +PA134967984 285527 HGNC:29127 ENSG00000075539 FRY like transcription coactivator FRYL FRY-like, mor2 cell polarity protein homolog (S. pombe) AF4p12, DKFZp686E205, KIAA0826, MOR2 Yes No Ensembl:ENSG00000075539, GeneCard:FRYL, HGNC:HGNC:29127, ModBase:O94915, NCBI Gene:285527, RefSeq DNA:NT_006238, RefSeq Protein:NP_055845, RefSeq RNA:NM_015030, UniProtKB:B3KXG5, UniProtKB:O94915, UniProtKB:Q6ZR29 No chr4 48499380 48782329 48497363 48780312 +PA28377 2487 HGNC:3959 ENSG00000162998 frizzled related protein FRZB frizzled-related protein, secreted frizzled-related protein 3 FRE, FRITZ, FRP-3, FRZB-1, FRZB-PEN, FRZB1, FZRB, SFRP3, SRFP3, hFIZ Yes No Comparative Toxicogenomics Database:2487, Ensembl:ENSG00000162998, GenAtlas:FRZB, GeneCard:FRZB, HGNC:HGNC:3959, HumanCyc Gene:HS08770, ModBase:Q92765, NCBI Gene:2487, OMIM:165720, OMIM:605083, RefSeq DNA:NG_017197, RefSeq DNA:NT_005403, RefSeq Protein:NP_001454, RefSeq RNA:NM_001463, UCSC Genome Browser:NM_001463, UniProtKB:Q92765 No chr2 183698002 183731498 182833275 182866770 +PA142672449 128061 HGNC:25332 ENSG00000143633 40S small subunit processome assembly factor 1 FSAF1 chromosome 1 open reading frame 131 C1orf131, DKFZp547B1713 Yes No Ensembl:ENSG00000143633, GeneCard:C1orf131, HGNC:HGNC:25332, HumanCyc Gene:HS13978, NCBI Gene:128061, RefSeq DNA:NT_167186, RefSeq Protein:NP_689592, RefSeq RNA:NM_152379, UniProtKB:Q8NDD1 No chr1 231359509 231376933 231223763 231241187 +PA166049100 100861412 HGNC:43653 ENSG00000265817 fibrinogen silencer binding protein FSBP Yes No Ensembl:ENSG00000265817, HGNC:HGNC:43653, NCBI Gene:100861412 No chr8 95439940 95449180 94427712 94436952 +PA162389023 84075 HGNC:20494 ENSG00000189139 fibrous sheath CABYR binding protein FSCB C14orf155, DKFZP434F1017 Yes No Ensembl:ENSG00000189139, GeneCard:FSCB, HGNC:HGNC:20494, NCBI Gene:84075, OMIM:611779, RefSeq DNA:NT_026437, RefSeq Protein:NP_115511, RefSeq RNA:NM_032135, UniProtKB:Q5H9T9 No chr14 44973352 44976499 44504149 44507296 +PA128394534 6624 HGNC:11148 ENSG00000075618 fascin actin-bundling protein 1 FSCN1 """Singed, drosophila, homolog-like"", ""actin bundling protein"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)""" FLJ38511, SNL, p55 Yes No Comparative Toxicogenomics Database:6624, Ensembl:ENSG00000075618, GeneCard:FSCN1, HGNC:HGNC:11148, HumanCyc Gene:HS01182, NCBI Gene:6624, OMIM:602689, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_003079, RefSeq RNA:NM_003088, UCSC Genome Browser:NM_003088, UniProtKB:Q16658 No chr7 5632436 5646287 5592805 5606656 +PA28378 25794 HGNC:3960 ENSG00000186765 fascin actin-bundling protein 2, retinal FSCN2 """fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"", ""retinal fascin""" RFSN, RP30 Yes No Comparative Toxicogenomics Database:25794, Ensembl:ENSG00000186765, GenAtlas:FSCN2, GeneCard:FSCN2, HGNC:HGNC:3960, ModBase:O14926, NCBI Gene:25794, OMIM:607643, OMIM:607921, RefSeq DNA:NG_015964, RefSeq DNA:NT_010783, RefSeq Protein:NP_001070650, RefSeq Protein:NP_036550, RefSeq RNA:NM_001077182, RefSeq RNA:NM_012418, UCSC Genome Browser:NM_012418, UniProtKB:A8MRA6, UniProtKB:O14926 No chr17 79481022 79504156 81513019 81537130 +PA28379 29999 HGNC:3961 ENSG00000106328 fascin actin-bundling protein 3 FSCN3 """fascin actin-bundling protein 3, testicular"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)""" Yes No Comparative Toxicogenomics Database:29999, Ensembl:ENSG00000106328, GenAtlas:FSCN3, GeneCard:FSCN3, HGNC:HGNC:3961, HumanCyc Gene:HS02888, ModBase:Q9NQT6, NCBI Gene:29999, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_065102, RefSeq RNA:NM_020369, UCSC Genome Browser:NM_020369, UniProtKB:Q9NQT6 No chr7 127233689 127241851 127593635 127601797 +PA134882882 79187 HGNC:13745 ENSG00000105255 fibronectin type III and SPRY domain containing 1 FSD1 MGC3213, MIR1 Yes No Comparative Toxicogenomics Database:79187, Ensembl:ENSG00000105255, GeneCard:FSD1, HGNC:HGNC:13745, HumanCyc Gene:HS02702, ModBase:Q9BTV5, NCBI Gene:79187, OMIM:609828, RefSeq DNA:NT_011255, RefSeq Protein:NP_077309, RefSeq RNA:NM_024333, UniProtKB:Q9BTV5 No chr19 4304591 4323843 4304594 4323846 +PA26931 83856 HGNC:13753 ENSG00000106701 fibronectin type III and SPRY domain containing 1 like FSD1L fibronectin type III and SPRY domain containing 1-like CCDC10, CSDUFD1, FSD1CL, FSD1NL Yes No Ensembl:ENSG00000106701, GenAtlas:FSD1L, GeneCard:FSD1L, HGNC:HGNC:13753, ModBase:Q9BXM9, NCBI Gene:83856, OMIM:609829, RefSeq DNA:NT_008470, RefSeq Protein:NP_001138785, RefSeq Protein:NP_114125, RefSeq Protein:NP_997530, RefSeq RNA:NM_001145313, RefSeq RNA:NM_031919, RefSeq RNA:NM_207647, UCSC Genome Browser:NM_031919, UniProtKB:B7Z3W5, UniProtKB:Q5T879, UniProtKB:Q8N450, UniProtKB:Q9BXM9 No chr9 108210077 108314714 105442183 105552433 +PA38279 123722 HGNC:18024 ENSG00000186628 fibronectin type III and SPRY domain containing 2 FSD2 minispryn RP11-127F21, SPRYD1 Yes No Ensembl:ENSG00000186628, GenAtlas:FSD2, GeneCard:FSD2, HGNC:HGNC:18024, ModBase:A1L4K1, NCBI Gene:123722, RefSeq DNA:NT_077661, RefSeq Protein:NP_001007123, RefSeq RNA:NM_001007122, UniProtKB:A1L4K1 No chr15 83426827 83474850 82755365 82807698 +PA28382 2488 HGNC:3964 ENSG00000131808 follicle stimulating hormone subunit beta FSHB """follicle stimulating hormone, beta polypeptide"", ""follicle-stimulating hormone beta subunit"", ""follitropin, beta chain""" Yes No Comparative Toxicogenomics Database:2488, Ensembl:ENSG00000131808, GenAtlas:FSHB, GeneCard:FSHB, HGNC:HGNC:3964, HumanCyc Gene:HS05572, ModBase:P01225, NCBI Gene:2488, OMIM:136530, OMIM:229070, RefSeq DNA:NG_008144, RefSeq DNA:NT_009237, RefSeq Protein:NP_000501, RefSeq Protein:NP_001018090, RefSeq RNA:NM_000510, RefSeq RNA:NM_001018080, UCSC Genome Browser:NM_000510, UniProtKB:P01225 No chr11 30252563 30256824 30231016 30235277 +PA28386 2492 HGNC:3969 ENSG00000170820 follicle stimulating hormone receptor FSHR FSHRO, LGR1, ODG1 Yes Yes Comparative Toxicogenomics Database:2492, Ensembl:ENSG00000170820, GenAtlas:FSHR, GeneCard:FSHR, HGNC:HGNC:3969, HumanCyc Gene:HS10187, IUPHAR Receptor:253, ModBase:P23945, NCBI Gene:2492, OMIM:136435, OMIM:233300, OMIM:276400, OMIM:608115, RefSeq DNA:NG_008146, RefSeq DNA:NT_022184, RefSeq Protein:NP_000136, RefSeq Protein:NP_852111, RefSeq RNA:NM_000145, RefSeq RNA:NM_181446, UCSC Genome Browser:NM_000145, UniProtKB:P23945, UniProtKB:Q05AH0 No chr2 49189296 49381666 48953161 49154527 +PA142671750 161835 HGNC:21674 ENSG00000150667 fibrous sheath interacting protein 1 FSIP1 FLJ35989 Yes Yes Ensembl:ENSG00000150667, GeneCard:FSIP1, HGNC:HGNC:21674, HumanCyc Gene:HS14330, ModBase:Q8NA03, NCBI Gene:161835, RefSeq DNA:NT_010194, RefSeq Protein:NP_689810, RefSeq RNA:NM_152597, UniProtKB:Q8NA03 No chr15 39886422 40075039 39598643 39782838 +PA134991479 401024 HGNC:21675 ENSG00000188738 fibrous sheath interacting protein 2 FSIP2 FLJ34780 Yes No Ensembl:ENSG00000188738, GeneCard:FSIP2, HGNC:HGNC:21675, NCBI Gene:401024, RefSeq DNA:NT_005403, RefSeq Protein:NP_775922, RefSeq Protein:NP_997365, RefSeq RNA:NM_173651, RefSeq RNA:NM_207482 No chr2 186603355 186698016 185738895 185833289 +PA28388 10468 HGNC:3971 ENSG00000134363 follistatin FST FS Yes No Comparative Toxicogenomics Database:10468, Ensembl:ENSG00000134363, GenAtlas:FST, GeneCard:FST, HGNC:HGNC:3971, HumanCyc Gene:HS05860, ModBase:P19883, NCBI Gene:10468, OMIM:136470, OMIM:184700, RefSeq DNA:NT_006713, RefSeq Protein:NP_006341, RefSeq Protein:NP_037541, RefSeq RNA:NM_006350, RefSeq RNA:NM_013409, UCSC Genome Browser:NM_006350, UniProtKB:P19883 No chr5 52776183 52782964 53480338 53487134 +PA28389 11167 HGNC:3972 ENSG00000163430 follistatin like 1 FSTL1 follistatin-like 1 FRP, FSL1, OCC-1, OCC1, tsc36 Yes No Comparative Toxicogenomics Database:11167, Ensembl:ENSG00000163430, GenAtlas:FSTL1, GeneCard:FSTL1, HGNC:HGNC:3972, HumanCyc Gene:HS08848, ModBase:Q12841, NCBI Gene:11167, OMIM:605547, RefSeq DNA:NT_005612, RefSeq Protein:NP_009016, RefSeq RNA:NM_007085, UCSC Genome Browser:NM_007085, UniProtKB:Q12841 No chr3 120113061 120169918 120394214 120451071 +PA28390 10272 HGNC:3973 ENSG00000070404 follistatin like 3 FSTL3 follistatin-like 3 (secreted glycoprotein), follistatin-related protein FLRG, FSRP Yes No Comparative Toxicogenomics Database:10272, Ensembl:ENSG00000070404, GenAtlas:FSTL3, GeneCard:FSTL3, HGNC:HGNC:3973, HumanCyc Gene:HS00994, ModBase:O95633, NCBI Gene:10272, OMIM:605343, RefSeq DNA:NT_011255, RefSeq Protein:NP_005851, RefSeq RNA:NM_005860, UCSC Genome Browser:NM_005860, UniProtKB:O95633 No chr19 676389 683392 676389 683392 +PA134969998 23105 HGNC:21389 ENSG00000053108 follistatin like 4 FSTL4 follistatin-like 4 KIAA1061 Yes No Ensembl:ENSG00000053108, GeneCard:FSTL4, HGNC:HGNC:21389, ModBase:Q6MZW2, NCBI Gene:23105, RefSeq DNA:NT_034772, RefSeq Protein:NP_055897, RefSeq RNA:NM_015082, UniProtKB:Q6MZW2 No chr5 132532152 132948223 133194827 133842066 +PA134978045 56884 HGNC:21386 ENSG00000168843 follistatin like 5 FSTL5 follistatin-like 5 DKFZp566D234, KIAA1263 Yes Yes Ensembl:ENSG00000168843, GeneCard:FSTL5, HGNC:HGNC:21386, ModBase:Q8N475, NCBI Gene:56884, RefSeq DNA:NT_016354, RefSeq Protein:NP_001121899, RefSeq Protein:NP_001121900, RefSeq Protein:NP_064501, RefSeq RNA:NM_001128427, RefSeq RNA:NM_001128428, RefSeq RNA:NM_020116, UniProtKB:Q8N475 No chr4 162305044 163085186 161383892 162164034 +PA28391 10841 HGNC:3974 ENSG00000160282 formimidoyltransferase cyclodeaminase FTCD formiminotransferase cyclodeaminase Yes No Comparative Toxicogenomics Database:10841, Ensembl:ENSG00000160282, GenAtlas:FTCD, GeneCard:FTCD, HGNC:HGNC:3974, HumanCyc Gene:HS08479, ModBase:O95954, NCBI Gene:10841, OMIM:229100, OMIM:606806, RefSeq DNA:NG_016191, RefSeq DNA:NT_011515, RefSeq Protein:NP_006648, RefSeq Protein:NP_996848, RefSeq RNA:NM_006657, RefSeq RNA:NM_206965, UCSC Genome Browser:NM_006657, UniProtKB:O95954 No chr21 47556065 47575499 46135981 46156481 +PA166180628 348751 HGNC:48661 ENSG00000226124 formiminotransferase cyclodeaminase N-terminal like FTCDNL1 formiminotransferase N-terminal sub-domain containing gene FONG Yes Yes Ensembl:ENSG00000226124, HGNC:HGNC:48661, NCBI Gene:348751 No 0 0 0 0 +PA28392 2495 HGNC:3976 ENSG00000167996 ferritin heavy chain 1 FTH1 """H-ferritin"", ""apoferritin"", ""ferritin, heavy polypeptide 1"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15""" FHC, FTH, FTHL6, PIG15, PLIF Yes No Comparative Toxicogenomics Database:2495, Ensembl:ENSG00000167996, GenAtlas:FTH1, GeneCard:FTH1, HGNC:HGNC:3976, HumanCyc Gene:HS09677, ModBase:P02794, NCBI Gene:2495, OMIM:134770, RefSeq DNA:NG_008346, RefSeq DNA:NT_167190, RefSeq Protein:NP_002023, RefSeq RNA:NM_002032, UCSC Genome Browser:NM_002032, UniProtKB:P02794 No chr11 61731757 61735132 61964285 61967660 +PA28394 2496 HGNC:3979 ENSG00000232273 ferritin, heavy polypeptide 1 pseudogene FTH1P1 Yes No Ensembl:ENSG00000232273, GenAtlas:FTHL1, GeneCard:FTH1P1, HGNC:HGNC:3979, NCBI Gene:2496, RefSeq DNA:NG_004768, RefSeq DNA:NT_032977 No chr1 38010164 38011059 37544563 37545458 +PA28395 2502 HGNC:3980 ENSG00000223361 ferritin, heavy polypeptide 1 pseudogene 10 FTH1P10 Yes No Ensembl:ENSG00000223361, GenAtlas:FTHL10, GeneCard:FTH1P10, HGNC:HGNC:3980, NCBI Gene:2502, RefSeq DNA:NG_003028, RefSeq DNA:NT_006576 No chr5 17353822 17354740 17353713 17354631 +PA28396 2503 HGNC:3981 ENSG00000237264 ferritin, heavy polypeptide 1 pseudogene 11 FTH1P11 Yes No Ensembl:ENSG00000237264, GenAtlas:FTHL11, GeneCard:FTH1P11, HGNC:HGNC:3981, NCBI Gene:2503, RefSeq DNA:NG_007332, RefSeq DNA:NT_008183 No chr8 82433755 82434668 81521520 81522433 +PA28397 2504 HGNC:3982 ENSG00000213362 ferritin, heavy polypeptide 1 pseudogene 12 FTH1P12 Yes No Ensembl:ENSG00000213362, GenAtlas:FTHL12, GeneCard:FTH1P12, HGNC:HGNC:3982, NCBI Gene:2504, RefSeq DNA:NG_007333, RefSeq DNA:NT_008413 No chr9 15526970 15527884 15526972 15527886 +PA28398 646362 HGNC:3983 ENSG00000258960 ferritin, heavy polypeptide 1 pseudogene 13 FTH1P13 Yes No Ensembl:ENSG00000258960, GenAtlas:FTHL13, GeneCard:FTH1P13, HGNC:HGNC:3983, NCBI Gene:646362, RefSeq DNA:NG_007334, RefSeq DNA:NT_026437 No chr14 66367492 66368168 65900774 65901450 +PA28400 2507 HGNC:3985 ENSG00000218980 ferritin, heavy polypeptide 1 pseudogene 15 FTH1P15 Yes No Ensembl:ENSG00000218980, GenAtlas:FTHL15, GeneCard:FTH1P15, HGNC:HGNC:3985, NCBI Gene:2507, RefSeq DNA:NG_007335, RefSeq DNA:NT_007592 No chr6 56869325 56869600 57004347 57004802 +PA28401 2508 HGNC:3986 ENSG00000227376 ferritin, heavy polypeptide 1 pseudogene 16 FTH1P16 Yes No Ensembl:ENSG00000227376, GenAtlas:FTHL16, GeneCard:FTH1P16, HGNC:HGNC:3986, NCBI Gene:2508, RefSeq DNA:NG_007337, RefSeq DNA:NT_167190 No chr11 77445360 77446277 77734315 77735232 +PA162389030 389844 HGNC:33525 ENSG00000219186 ferritin, heavy polypeptide 1 pseudogene 19 FTH1P19 Yes No Ensembl:ENSG00000219186, GeneCard:FTH1P19, HGNC:HGNC:33525, NCBI Gene:389844, RefSeq DNA:NG_009569, RefSeq DNA:NT_079573 No chrX 37351210 37351967 37491957 37492714 +PA28404 2497 HGNC:3989 ENSG00000234975 ferritin, heavy polypeptide 1 pseudogene 2 FTH1P2 Yes No Ensembl:ENSG00000234975, GenAtlas:FTHL2, GeneCard:FTH1P2, HGNC:HGNC:3989, NCBI Gene:2497, RefSeq DNA:NG_007330, RefSeq DNA:NT_167186 No chr1 228823167 228823626 228687417 228687879 +PA28410 2510 HGNC:3997 ENSG00000249013 ferritin, heavy polypeptide 1 pseudogene 21 FTH1P21 Yes No Ensembl:ENSG00000249013, GenAtlas:FTHP2, GeneCard:FTH1P21, HGNC:HGNC:3997, NCBI Gene:2510, RefSeq DNA:NG_001121, RefSeq DNA:NT_016354 No chr4 156927408 156928332 156006256 156007180 +PA28405 2498 HGNC:3990 ENSG00000213453 ferritin, heavy polypeptide 1 pseudogene 3 FTH1P3 Yes No Ensembl:ENSG00000213453, GenAtlas:FTHL3, GeneCard:FTH1P3, HGNC:HGNC:3990, NCBI Gene:2498, RefSeq DNA:NT_022184, RefSeq RNA:NR_002201 No chr2 27615490 27616443 27392623 27393576 +PA28406 2499 HGNC:3991 ENSG00000242992 ferritin, heavy polypeptide 1 pseudogene 4 FTH1P4 Yes No Ensembl:ENSG00000242992, GenAtlas:FTHL4, GeneCard:FTH1P4, HGNC:HGNC:3991, NCBI Gene:2499, RefSeq DNA:NG_004769, RefSeq DNA:NT_005612 No chr3 128483149 128484064 128764306 128765221 +PA28409 2509 HGNC:3996 ENSG00000230204 ferritin, heavy polypeptide 1 pseudogene 5 FTH1P5 Yes No Ensembl:ENSG00000230204, GenAtlas:FTHP1, GeneCard:FTH1P5, HGNC:HGNC:3996, NCBI Gene:2509, RefSeq DNA:NG_005639, RefSeq DNA:NT_007592 No chr6 50880263 50881175 50912550 50913462 +PA28407 2500 HGNC:3994 ENSG00000232187 ferritin, heavy polypeptide 1 pseudogene 7 FTH1P7 Yes No Ensembl:ENSG00000232187, GenAtlas:FTHL7, GeneCard:FTH1P7, HGNC:HGNC:3994, NCBI Gene:2500, RefSeq DNA:NG_007331, RefSeq DNA:NT_024524 No chr13 23270001 23270930 22695862 22696791 +PA28408 2501 HGNC:3995 ENSG00000219507 ferritin, heavy polypeptide 1 pseudogene 8 FTH1P8 Yes No Ensembl:ENSG00000219507, GenAtlas:FTHL8, GeneCard:FTH1P8, HGNC:HGNC:3995, NCBI Gene:2501, RefSeq DNA:NG_007336, RefSeq DNA:NT_011681 No chrX 147133532 147134443 148052012 148052923 +PA28402 53940 HGNC:3987 ENSG00000132446 ferritin heavy chain like 17 FTHL17 """cancer/testis antigen 38"", ""ferritin, heavy polypeptide-like 17""" CT38 Yes No Ensembl:ENSG00000132446, GenAtlas:FTHL17, GeneCard:FTHL17, HGNC:HGNC:3987, HumanCyc Gene:HS05636, ModBase:Q9BXU8, NCBI Gene:53940, OMIM:300308, RefSeq DNA:NG_015850, RefSeq DNA:NT_167197, RefSeq Protein:NP_114100, RefSeq RNA:NM_031894, UCSC Genome Browser:NM_031894, UniProtKB:Q9BXU8 No chrX 31089358 31090170 31071241 31072053 +PA28412 2512 HGNC:3999 ENSG00000087086 ferritin light chain FTL """L apoferritin"", ""ferritin L subunit"", ""ferritin L-chain"", ""ferritin light chain"", ""ferritin light polypeptide-like 3"", ""ferritin, light polypeptide"", ""neurodegeneration with brain iron accumulation 3""" FTL1, MGC71996, NBIA3 Yes No Comparative Toxicogenomics Database:2512, Ensembl:ENSG00000087086, GenAtlas:FTL, GeneCard:FTL, HGNC:HGNC:3999, HumanCyc Gene:HS01553, ModBase:P02792, NCBI Gene:2512, OMIM:134790, OMIM:600886, OMIM:606159, RefSeq DNA:NG_008152, RefSeq DNA:NT_011109, RefSeq Protein:NP_000137, RefSeq RNA:NM_000146, UCSC Genome Browser:NM_000146, UniProtKB:P02792 No chr19 49467659 49470136 48965309 48966879 +PA28415 170514 HGNC:16547 ENSG00000235525 ferritin, light polypeptide pseudogene 1 FTLP1 bA465L10.3 Yes No Ensembl:ENSG00000235525, GenAtlas:FTLP, GeneCard:FTLP1, HGNC:HGNC:16547, NCBI Gene:170514, RefSeq DNA:NG_001037, RefSeq DNA:NT_011362 No chr20 44603756 44604907 45975117 45976268 +PA165548752 100873960 HGNC:37969 ENSG00000237913 ferritin, light polypeptide pseudogene 19 FTLP19 Yes No Ensembl:ENSG00000237913, HGNC:HGNC:37969, NCBI Gene:100873960 No chr10 16113415 16113808 16071416 16071809 +PA28413 284764 HGNC:4000 ENSG00000226608 ferritin, light polypeptide pseudogene 3 FTLP3 dJ681N20.2 Yes No Ensembl:ENSG00000226608, GenAtlas:FTLL1, GeneCard:FTLP3, HGNC:HGNC:4000, NCBI Gene:284764, RefSeq DNA:NG_002715, RefSeq DNA:NT_011387 No chr20 4004365 4005253 4023718 4024606 +PA134941146 94033 HGNC:17345 ENSG00000181867 ferritin mitochondrial FTMT mitochondrial ferritin MtF Yes No Comparative Toxicogenomics Database:94033, Ensembl:ENSG00000181867, GeneCard:FTMT, HGNC:HGNC:17345, ModBase:Q8N4E7, NCBI Gene:94033, OMIM:608847, RefSeq DNA:NT_034772, RefSeq Protein:NP_803431, RefSeq RNA:NM_177478, UniProtKB:Q8N4E7 No chr5 121187650 121188528 121851955 121852833 +PA152208656 79068 HGNC:24678 ENSG00000140718 FTO alpha-ketoglutarate dependent dioxygenase FTO """AlkB homolog 9"", ""FTO, alpha-ketoglutarate dependent dioxygenase"", ""alpha-ketoglutarate-dependent dioxygenase"", ""fat mass and obesity associated"", ""intragenic FTO exon 9 containing transcript""" ALKBH9, IFEX9, KIAA1752, MGC5149 Yes Yes Ensembl:ENSG00000140718, GeneCard:FTO, HGNC:HGNC:24678, ModBase:Q9C0B1, NCBI Gene:79068, OMIM:601665, OMIM:610966, OMIM:612938, RefSeq DNA:NG_012969, RefSeq DNA:NT_010498, RefSeq Protein:NP_001073901, RefSeq RNA:NM_001080432, UniProtKB:B3KU60, UniProtKB:Q9C0B1 No chr16 53737875 54148379 53703963 54114467 +PA28417 24140 HGNC:13254 ENSG00000068438 FtsJ RNA 2'-O-methyltransferase 1 FTSJ1 FtsJ RNA methyltransferase homolog 1, FtsJ RNA methyltransferase homolog 1 (E. coli), tRNA methyltransferase 7 homolog (S. cerevisiae) CDLIV, JM23, MRX44, MRX9, SPB1, TRM7, TRMT7 Yes No Comparative Toxicogenomics Database:24140, Ensembl:ENSG00000068438, GenAtlas:FTSJ1, GeneCard:FTSJ1, HGNC:HGNC:13254, HumanCyc Gene:HS00938, ModBase:Q9UET6, NCBI Gene:24140, OMIM:300499, OMIM:309549, RefSeq DNA:NG_008879, RefSeq DNA:NT_079573, RefSeq Protein:NP_036412, RefSeq Protein:NP_803183, RefSeq Protein:NP_803188, RefSeq RNA:NM_012280, RefSeq RNA:NM_177434, RefSeq RNA:NM_177439, UCSC Genome Browser:NM_012280, UniProtKB:B3KN91, UniProtKB:Q9UET6 No chrX 48334454 48344752 48476021 48486364 +PA28419 117246 HGNC:17136 ENSG00000108592 FtsJ RNA 2'-O-methyltransferase 3 FTSJ3 FtsJ RNA methyltransferase homolog 3, FtsJ homolog 3 (E. coli), SPB1 RNA methyltransferase homolog (S. cerevisiae) SPB1 Yes No Comparative Toxicogenomics Database:117246, Ensembl:ENSG00000108592, GenAtlas:FTSJ3, GeneCard:FTSJ3, HGNC:HGNC:17136, HumanCyc Gene:HS03131, ModBase:Q8IY81, NCBI Gene:117246, RefSeq DNA:NT_010783, RefSeq Protein:NP_060117, RefSeq RNA:NM_017647, UCSC Genome Browser:NM_017647, UniProtKB:Q8IY81 No chr17 61896793 61905031 63819433 63827671 +PA165757156 100302692 HGNC:37190 ENSG00000230590 FTX transcript, XIST regulator (non-protein coding) FTX five prime to XIST LINC00182 Yes No Ensembl:ENSG00000230590, GeneCard:FTX, HGNC:HGNC:37190, NCBI Gene:100302692, RefSeq RNA:NR_028379 No chrX 73247971 73513409 74028136 74293574 +PA28420 8880 HGNC:4004 ENSG00000162613 far upstream element binding protein 1 FUBP1 FUSE binding protein 1, far upstream element (FUSE) binding protein 1 FBP, FUBP Yes No Comparative Toxicogenomics Database:8880, Ensembl:ENSG00000162613, GenAtlas:FUBP1, GeneCard:FUBP1, HGNC:HGNC:4004, HumanCyc Gene:HS08703, ModBase:Q96AE4, NCBI Gene:8880, OMIM:603444, RefSeq DNA:NT_032977, RefSeq Protein:NP_003893, RefSeq RNA:NM_003902, UCSC Genome Browser:NM_003902, UniProtKB:Q96AE4 No chr1 78409740 78444839 77944055 77979494 +PA28421 8939 HGNC:4005 ENSG00000107164 far upstream element binding protein 3 FUBP3 far upstream element (FUSE) binding protein 3 FBP3 Yes No Comparative Toxicogenomics Database:8939, Ensembl:ENSG00000107164, GenAtlas:FUBP3, GeneCard:FUBP3, HGNC:HGNC:4005, HumanCyc Gene:HS02975, ModBase:Q96I24, NCBI Gene:8939, OMIM:603536, RefSeq DNA:NT_035014, RefSeq Protein:NP_003925, RefSeq RNA:NM_003934, UniProtKB:A3KFK8, UniProtKB:Q96I24 No chr9 133454954 133513739 130579567 130638352 +PA28422 2517 HGNC:4006 ENSG00000179163 alpha-L-fucosidase 1 FUCA1 """a-L-fucosidase 1"", ""fucosidase, alpha-L- 1, tissue"", ""tissue fucosidase"", ""α-L-fucosidase 1"", ""α-L-fucosidase 1""" Yes No Comparative Toxicogenomics Database:2517, Ensembl:ENSG00000179163, GenAtlas:FUCA1, GeneCard:FUCA1, HGNC:HGNC:4006, HumanCyc Gene:HS11358, ModBase:P04066, NCBI Gene:2517, OMIM:230000, OMIM:612280, RefSeq DNA:NG_013346, RefSeq DNA:NT_004610, RefSeq Protein:NP_000138, RefSeq RNA:NM_000147, UCSC Genome Browser:NM_000147, UniProtKB:P04066 No chr1 24171567 24194859 23845077 23868369 +PA28423 2518 HGNC:4007 ENSG00000237053 fucosidase, alpha-L- 1, tissue pseudogene 1 FUCA1P1 Yes No Ensembl:ENSG00000237053, GenAtlas:FUCA1P, GeneCard:FUCA1P1, HGNC:HGNC:4007, NCBI Gene:2518, RefSeq DNA:NG_001122, RefSeq DNA:NT_005403 No chr2 177669183 177670667 176804455 176805939 +PA28424 2519 HGNC:4008 ENSG00000001036 alpha-L-fucosidase 2 FUCA2 """a-L-fucosidase 2"", ""fucosidase, alpha-L- 2, plasma"", ""plasma fucosidase"", ""α-L-fucosidase 2"", ""α-L-fucosidase 2""" MGC1314, dJ20N2.5 Yes No Comparative Toxicogenomics Database:2519, Ensembl:ENSG00000001036, GenAtlas:FUCA2, GeneCard:FUCA2, HGNC:HGNC:4008, ModBase:Q9BTY2, NCBI Gene:2519, OMIM:136820, RefSeq DNA:NT_025741, RefSeq Protein:NP_114409, RefSeq RNA:NM_032020, UCSC Genome Browser:NM_032020, UniProtKB:Q9BTY2 No chr6 143815949 143833020 143494812 143511883 +PA134875965 139341 HGNC:28746 ENSG00000069509 FUN14 domain containing 1 FUNDC1 MGC51029 Yes No Ensembl:ENSG00000069509, GeneCard:FUNDC1, HGNC:HGNC:28746, NCBI Gene:139341, RefSeq DNA:NG_021288, RefSeq DNA:NT_079573, RefSeq Protein:NP_776155, RefSeq RNA:NM_173794, UniProtKB:Q8IVP5 No chrX 44382885 44402221 44523639 44542975 +PA134908797 65991 HGNC:24925 ENSG00000165775 FUN14 domain containing 2 FUNDC2 DC44, HCBP6 Yes No Ensembl:ENSG00000165775, GeneCard:FUNDC2, HGNC:HGNC:24925, HumanCyc Gene:HS15362, NCBI Gene:65991, RefSeq DNA:NG_005114, RefSeq DNA:NT_167198, RefSeq Protein:NP_076423, RefSeq RNA:NM_023934, UniProtKB:Q9BWH2 No chrX 154255064 154285191 155026789 155056916 +PA134972390 282969 HGNC:24733 ENSG00000148803 fucose mutarotase FUOM C10orf125, FLJ26016, FucM, FucU Yes No Ensembl:ENSG00000148803, GeneCard:C10orf125, HGNC:HGNC:24733, ModBase:A2VDF0, NCBI Gene:282969, RefSeq DNA:NT_008818, RefSeq Protein:NP_001091953, RefSeq Protein:NP_940874, RefSeq RNA:NM_001098483, RefSeq RNA:NM_198472, UniProtKB:A2VDF0 No chr10 135168658 135171529 133352773 133358031 +PA32894 5045 HGNC:8568 ENSG00000140564 furin, paired basic amino acid cleaving enzyme FURIN furin (paired basic amino acid cleaving enzyme), proprotein convertase subtilisin/kexin 3, subtilisin-like proprotein convertase 1 FUR, PACE, PCSK3, SPC1 Yes No Comparative Toxicogenomics Database:5045, Ensembl:ENSG00000140564, GeneCard:FURIN, HGNC:HGNC:8568, HumanCyc Gene:HS06741, ModBase:P09958, NCBI Gene:5045, OMIM:136950, RefSeq DNA:NT_010274, RefSeq Protein:NP_002560, RefSeq RNA:NM_002569, UCSC Genome Browser:NM_002569, UniProtKB:P09958 No chr15 91411885 91426687 90868592 90883458 +PA28425 2521 HGNC:4010 ENSG00000089280 FUS RNA binding protein FUS fused in sarcoma, heterogeneous nuclear ribonucleoprotein P2, translocated in liposarcoma ALS6, FUS1, HNRNPP2, TLS, hnRNP-P2 Yes No Comparative Toxicogenomics Database:2521, Ensembl:ENSG00000089280, GenAtlas:FUS, GeneCard:FUS, HGNC:HGNC:4010, HumanCyc Gene:HS01648, ModBase:P35637, NCBI Gene:2521, OMIM:137070, OMIM:608030, RefSeq DNA:NG_012889, RefSeq DNA:NT_010393, RefSeq Protein:NP_001164105, RefSeq Protein:NP_001164408, RefSeq Protein:NP_004951, RefSeq RNA:NM_001170634, RefSeq RNA:NM_001170937, RefSeq RNA:NM_004960, RefSeq RNA:NR_028388, UCSC Genome Browser:NM_004960, UniProtKB:P35637, UniProtKB:Q13344, UniProtKB:Q6IBQ5 No chr16 31191431 31206192 31179444 31194871 +PA28428 2523 HGNC:4012 ENSG00000174951 fucosyltransferase 1 (H blood group) FUT1 """fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)"", ""galactoside 2-alpha-L-fucosyltransferase""" H, HSC Yes No Ensembl:ENSG00000174951, GenAtlas:FUT1, GeneCard:FUT1, HGNC:HGNC:4012, HumanCyc Gene:HS10855, ModBase:P19526, NCBI Gene:2523, OMIM:211100, RefSeq DNA:NG_007510, RefSeq DNA:NT_011109, RefSeq Protein:NP_000139, RefSeq RNA:NM_000148, UCSC Genome Browser:NM_000148, UniProtKB:P19526, UniProtKB:Q6IZA2 No chr19 49251268 49258647 48747826 48755390 +PA134872572 84750 HGNC:19234 ENSG00000172728 fucosyltransferase 10 FUT10 """alpha (1,3) fucosyltransferase"", ""fucosyltransferase 10 (alpha (1,3) fucosyltransferase)""" Yes No Comparative Toxicogenomics Database:84750, Ensembl:ENSG00000172728, GeneCard:FUT10, HGNC:HGNC:19234, HumanCyc Gene:HS10559, ModBase:Q6P4F1, NCBI Gene:84750, RefSeq DNA:NT_167187, RefSeq Protein:NP_116053, RefSeq RNA:NM_032664, UniProtKB:Q6P4F1 No chr8 33228057 33330664 33308102 33473492 +PA134914077 170384 HGNC:19233 ENSG00000196968 fucosyltransferase 11 FUT11 """alpha (1,3) fucosyltransferase"", ""fucosyltransferase 11 (alpha (1,3) fucosyltransferase)""" MGC33202 Yes No Comparative Toxicogenomics Database:170384, Ensembl:ENSG00000196968, GeneCard:FUT11, HGNC:HGNC:19233, HumanCyc Gene:HS16767, ModBase:Q495W5, NCBI Gene:170384, RefSeq DNA:NT_030059, RefSeq Protein:NP_775811, RefSeq RNA:NM_173540, UniProtKB:Q495W5 No chr10 75531830 75535977 73772175 73780251 +PA28429 2524 HGNC:4013 ENSG00000176920 fucosyltransferase 2 (H blood group) FUT2 """GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha (1,2) fucosyltransferase"", ""alpha(1,2)FT2"", ""fucosyltransferase 2"", ""fucosyltransferase 2 (secretor status included)"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""secretor blood group alpha-2-fucosyltransferase"", ""secretor factor""" SE, SEC2, Se2, sej Yes Yes Comparative Toxicogenomics Database:2524, Ensembl:ENSG00000176920, GenAtlas:FUT2, GeneCard:FUT2, HGNC:HGNC:4013, HumanCyc Gene:HS11104, ModBase:Q10981, NCBI Gene:2524, OMIM:182100, OMIM:612542, RefSeq DNA:NG_007511, RefSeq DNA:NT_011109, RefSeq Protein:NP_000502, RefSeq Protein:NP_001091107, RefSeq RNA:NM_000511, RefSeq RNA:NM_001097638, UCSC Genome Browser:NM_000511, UniProtKB:A8K2L2, UniProtKB:Q10981 No chr19 49199228 49209191 48695971 48705934 +PA28430 2525 HGNC:4014 ENSG00000171124 fucosyltransferase 3 (Lewis blood group) FUT3 """fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)"", ""galactoside 3(4)-L-fucosyltransferase""" CD174, LE Yes No Ensembl:ENSG00000171124, GenAtlas:FUT3, GeneCard:FUT3, HGNC:HGNC:4014, HumanCyc Gene:HS10249, ModBase:P21217, NCBI Gene:2525, OMIM:111100, RefSeq DNA:NG_007482, RefSeq DNA:NT_011255, RefSeq Protein:NP_000140, RefSeq Protein:NP_001091108, RefSeq Protein:NP_001091109, RefSeq Protein:NP_001091110, RefSeq RNA:NM_000149, RefSeq RNA:NM_001097639, RefSeq RNA:NM_001097640, RefSeq RNA:NM_001097641, UCSC Genome Browser:NM_000149, UniProtKB:A8K737, UniProtKB:P21217 No chr19 5842899 5851485 5842888 5851474 +PA28431 2526 HGNC:4015 ENSG00000196371 fucosyltransferase 4 FUT4 """ELAM ligand fucosyltransferase"", ""alpha (1,3) fucosyltransferase, myeloid-specific"", ""fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)"", ""galactoside 3-L-fucosyltransferase""" CD15, ELFT, FCT3A, FUC-TIV Yes No Comparative Toxicogenomics Database:2526, Ensembl:ENSG00000196371, GenAtlas:FUT4, GeneCard:FUT4, HGNC:HGNC:4015, HumanCyc Gene:HS07593, ModBase:P22083, NCBI Gene:2526, OMIM:104230, RefSeq DNA:NT_167190, RefSeq Protein:NP_002024, RefSeq RNA:NM_002033, UCSC Genome Browser:NM_002033, UniProtKB:P22083 No chr11 94277017 94283064 94543851 94549898 +PA28432 2527 HGNC:4016 ENSG00000130383 fucosyltransferase 5 FUT5 """alpha (1,3) fucosyltransferase"", ""fucosyltransferase 5 (alpha (1,3) fucosyltransferase)""" FUC-TV Yes No Ensembl:ENSG00000130383, GenAtlas:FUT5, GeneCard:FUT5, HGNC:HGNC:4016, HumanCyc Gene:HS05379, ModBase:Q11128, NCBI Gene:2527, OMIM:136835, RefSeq DNA:NT_011255, RefSeq Protein:NP_002025, RefSeq RNA:NM_002034, UCSC Genome Browser:NM_002034, UniProtKB:Q11128 No chr19 5865837 5870551 5865826 5870540 +PA28433 2528 HGNC:4017 ENSG00000156413 fucosyltransferase 6 FUT6 """alpha-(1,3)-fucosyltransferase"", ""fucosyltransferase 6 (alpha (1,3) fucosyltransferase)"", ""galactoside 3-L-fucosyltransferase""" FCT3A, FLJ40754, FT1A, FucT-VI Yes No Ensembl:ENSG00000156413, GenAtlas:FUT6, GeneCard:FUT6, HGNC:HGNC:4017, HumanCyc Gene:HS08124, ModBase:P51993, NCBI Gene:2528, OMIM:136836, RefSeq DNA:NG_007505, RefSeq DNA:NT_011255, RefSeq Protein:NP_000141, RefSeq Protein:NP_001035791, RefSeq RNA:NM_000150, RefSeq RNA:NM_001040701, UCSC Genome Browser:NM_000150, UniProtKB:P51993, UniProtKB:Q6P7E6 No chr19 5830637 5839764 5830626 5839753 +PA28434 2529 HGNC:4018 ENSG00000180549 fucosyltransferase 7 FUT7 """alpha (1,3) fucosyltransferase"", ""fucosyltransferase 7 (alpha (1,3) fucosyltransferase)""" Yes No Comparative Toxicogenomics Database:2529, Ensembl:ENSG00000180549, GenAtlas:FUT7, GeneCard:FUT7, HGNC:HGNC:4018, HumanCyc Gene:HS11506, ModBase:Q11130, NCBI Gene:2529, OMIM:602030, RefSeq DNA:NG_007527, RefSeq DNA:NT_024000, RefSeq Protein:NP_004470, RefSeq RNA:NM_004479, UCSC Genome Browser:NM_004479, UniProtKB:Q11130 No chr9 139924626 139927292 137030174 137032840 +PA28435 2530 HGNC:4019 ENSG00000033170 fucosyltransferase 8 FUT8 """alpha (1,6) fucosyltransferase"", ""fucosyltransferase 8 (alpha (1,6) fucosyltransferase)""" Yes No Ensembl:ENSG00000033170, GenAtlas:FUT8, GeneCard:FUT8, HGNC:HGNC:4019, HumanCyc Gene:HS00491, ModBase:Q9BYC5, NCBI Gene:2530, OMIM:602589, RefSeq DNA:NT_026437, RefSeq Protein:NP_004471, RefSeq Protein:NP_835367, RefSeq Protein:NP_835368, RefSeq Protein:NP_835369, RefSeq Protein:NP_835370, RefSeq RNA:NM_001371533, RefSeq RNA:NM_004480, RefSeq RNA:NM_178154, RefSeq RNA:NM_178155, RefSeq RNA:NM_178156, RefSeq RNA:NM_178157, RefSeq RNA:NR_038167, UCSC Genome Browser:NM_004480, UniProtKB:Q546E0, UniProtKB:Q8IUA5, UniProtKB:Q9BYC5 No chr14 65877310 66210839 65410592 65744122 +PA28436 10690 HGNC:4020 ENSG00000172461 fucosyltransferase 9 FUT9 """alpha (1,3) fucosyltransferase"", ""fucosyltransferase 9 (alpha (1,3) fucosyltransferase)""" Fuc-TIX Yes No Ensembl:ENSG00000172461, GenAtlas:FUT9, GeneCard:FUT9, HGNC:HGNC:4020, HumanCyc Gene:HS10520, ModBase:Q9Y231, NCBI Gene:10690, OMIM:606865, RefSeq DNA:NT_025741, RefSeq Protein:NP_006572, RefSeq RNA:NM_006581, UCSC Genome Browser:NM_006581, UniProtKB:Q9Y231 No chr6 96463845 96663488 96015969 96215612 +PA145148782 80199 HGNC:26219 ENSG00000010361 fuzzy planar cell polarity protein FUZ ciliogenesis and planar polarity effector 3, ciliogenesis and planar polarity effector complex subunit 3 CPLANE3, FLJ22688, Fy Yes No Ensembl:ENSG00000010361, GeneCard:FUZ, HGNC:HGNC:26219, HumanCyc Gene:HS12037, ModBase:Q9BT04, NCBI Gene:80199, OMIM:610622, RefSeq DNA:NT_011109, RefSeq Protein:NP_001165408, RefSeq Protein:NP_079405, RefSeq RNA:NM_001171937, RefSeq RNA:NM_025129, RefSeq RNA:NR_033269, UniProtKB:Q9BT04 No chr19 50310123 50316567 49806866 49817376 +PA28369 2395 HGNC:3951 ENSG00000165060 frataxin FXN CyaY, FA, FARR, FRDA, X25 Yes No Comparative Toxicogenomics Database:2395, Ensembl:ENSG00000165060, GenAtlas:FXN, GeneCard:FXN, HGNC:HGNC:3951, HumanCyc Gene:HS09177, ModBase:Q16595, NCBI Gene:2395, OMIM:229300, OMIM:606829, RefSeq DNA:NG_008845, RefSeq DNA:NT_008470, RefSeq Protein:NP_000135, RefSeq Protein:NP_001155178, RefSeq Protein:NP_852090, RefSeq RNA:NM_000144, RefSeq RNA:NM_001161706, RefSeq RNA:NM_181425, UCSC Genome Browser:NM_000144, UniProtKB:A8MXJ6, UniProtKB:Q16595 No chr9 71650479 71715094 69035563 69100178 +PA28439 8087 HGNC:4023 ENSG00000114416 FMR1 autosomal homolog 1 FXR1 fragile X mental retardation, autosomal homolog 1 Yes No Comparative Toxicogenomics Database:8087, Ensembl:ENSG00000114416, GenAtlas:FXR1, GeneCard:FXR1, HGNC:HGNC:4023, HumanCyc Gene:HS03767, ModBase:P51114, NCBI Gene:8087, OMIM:600819, RefSeq DNA:NT_005612, RefSeq Protein:NP_001013456, RefSeq Protein:NP_001013457, RefSeq Protein:NP_005078, RefSeq RNA:NM_001013438, RefSeq RNA:NM_001013439, RefSeq RNA:NM_005087, UCSC Genome Browser:NM_005087, UniProtKB:P51114 No chr3 180630096 180700541 180912446 180982753 +PA28440 9513 HGNC:4024 ENSG00000129245 FMR1 autosomal homolog 2 FXR2 fragile X mental retardation, autosomal homolog 2 FMR1L2 Yes Yes Comparative Toxicogenomics Database:9513, Ensembl:ENSG00000129245, GenAtlas:FXR2, GeneCard:FXR2, HGNC:HGNC:4024, HumanCyc Gene:HS05261, ModBase:P51116, NCBI Gene:9513, OMIM:605339, RefSeq DNA:NT_010718, RefSeq Protein:NP_004851, RefSeq RNA:NM_004860, UCSC Genome Browser:NM_004860, UniProtKB:P51116 No chr17 7494548 7518215 7591230 7614897 +PA28441 5348 HGNC:4025 ENSG00000266964 FXYD domain containing ion transport regulator 1 FXYD1 PLM Yes No Comparative Toxicogenomics Database:5348, Ensembl:ENSG00000266964, GenAtlas:FXYD1, GeneCard:FXYD1, HGNC:HGNC:4025, ModBase:O00168, NCBI Gene:5348, OMIM:602359, RefSeq DNA:NT_011109, RefSeq Protein:NP_005022, RefSeq Protein:NP_068702, RefSeq RNA:NM_005031, RefSeq RNA:NM_021902, UCSC Genome Browser:NM_005031, UniProtKB:O00168 No chr19 35629693 35633959 35137207 35143055 +PA28442 486 HGNC:4026 ENSG00000137731 FXYD domain containing ion transport regulator 2 FXYD2 ATP1G1, HOMG2, MGC12372 Yes No Comparative Toxicogenomics Database:486, Ensembl:ENSG00000137731, GenAtlas:FXYD2, GeneCard:FXYD2, HGNC:HGNC:4026, HumanCyc Gene:HS06384, ModBase:P54710, NCBI Gene:486, OMIM:154020, OMIM:601814, RefSeq DNA:NG_011543, RefSeq DNA:NT_033899, RefSeq Protein:NP_001120961, RefSeq Protein:NP_001671, RefSeq Protein:NP_067614, RefSeq RNA:NM_001127489, RefSeq RNA:NM_001680, RefSeq RNA:NM_021603, UCSC Genome Browser:NM_001680, UniProtKB:P54710, UniProtKB:Q8N8W8 No chr11 117690790 117699408 117820075 117828092 +PA28443 5349 HGNC:4027 ENSG00000089356 FXYD domain containing ion transport regulator 3 FXYD3 MAT-8, PLML Yes No Comparative Toxicogenomics Database:5349, Ensembl:ENSG00000089356, GenAtlas:FXYD3, GeneCard:FXYD3, HGNC:HGNC:4027, HumanCyc Gene:HS01653, ModBase:Q14802, NCBI Gene:5349, OMIM:604996, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129479, RefSeq Protein:NP_001129480, RefSeq Protein:NP_001129481, RefSeq Protein:NP_001129482, RefSeq Protein:NP_001129483, RefSeq Protein:NP_001129484, RefSeq Protein:NP_005962, RefSeq Protein:NP_068710, RefSeq RNA:NM_001136007, RefSeq RNA:NM_001136008, RefSeq RNA:NM_001136009, RefSeq RNA:NM_001136010, RefSeq RNA:NM_001136011, RefSeq RNA:NM_001136012, RefSeq RNA:NM_005971, RefSeq RNA:NM_021910, UCSC Genome Browser:NM_005971, UniProtKB:C9J9I3, UniProtKB:C9JDU2, UniProtKB:Q14802 No chr19 35606732 35615228 35115821 35124324 +PA28444 53828 HGNC:4028 ENSG00000150201 FXYD domain containing ion transport regulator 4 FXYD4 CHIF Yes No Comparative Toxicogenomics Database:53828, Ensembl:ENSG00000150201, GenAtlas:FXYD4, GeneCard:FXYD4, HGNC:HGNC:4028, HumanCyc Gene:HS14317, ModBase:P59646, NCBI Gene:53828, RefSeq DNA:NT_033985, RefSeq Protein:NP_001171892, RefSeq Protein:NP_775183, RefSeq RNA:NM_001184963, RefSeq RNA:NM_173160, UCSC Genome Browser:NM_173160, UniProtKB:P59646 No chr10 43867092 43871783 43371644 43376335 +PA28445 53827 HGNC:4029 ENSG00000089327 FXYD domain containing ion transport regulator 5 FXYD5 dysadherin OIT2 Yes No Comparative Toxicogenomics Database:53827, Ensembl:ENSG00000089327, GenAtlas:FXYD5, GeneCard:FXYD5, HGNC:HGNC:4029, HumanCyc Gene:HS01650, NCBI Gene:53827, OMIM:606669, RefSeq DNA:NT_011109, RefSeq Protein:NP_001158077, RefSeq Protein:NP_054883, RefSeq Protein:NP_659003, RefSeq RNA:NM_001164605, RefSeq RNA:NM_014164, RefSeq RNA:NM_144779, RefSeq RNA:NR_028406, UCSC Genome Browser:NM_014164, UniProtKB:Q86TE4, UniProtKB:Q96DB9 No chr19 35645625 35660788 35154722 35169885 +PA28446 53826 HGNC:4030 ENSG00000137726 FXYD domain containing ion transport regulator 6 FXYD6 phosphohippolin Yes No Comparative Toxicogenomics Database:53826, Ensembl:ENSG00000137726, GenAtlas:FXYD6, GeneCard:FXYD6, HGNC:HGNC:4030, HumanCyc Gene:HS06382, ModBase:Q9H0Q3, NCBI Gene:53826, OMIM:606683, RefSeq DNA:NG_013071, RefSeq DNA:NT_033899, RefSeq Protein:NP_001158303, RefSeq Protein:NP_001158304, RefSeq Protein:NP_001158308, RefSeq Protein:NP_001158309, RefSeq Protein:NP_071286, RefSeq RNA:NM_001164831, RefSeq RNA:NM_001164832, RefSeq RNA:NM_001164836, RefSeq RNA:NM_001164837, RefSeq RNA:NM_022003, UCSC Genome Browser:NM_022003, UniProtKB:Q9H0Q3 No chr11 117707691 117748201 117836976 117877486 +PA28447 100128934 HGNC:4031 ENSG00000270762 FXYD domain containing ion transport regulator 6 pseudogene 1 FXYD6P1 Yes No Ensembl:ENSG00000270762, GenAtlas:FXYD6P1, GeneCard:FXYD6P1, HGNC:HGNC:4031, NCBI Gene:100128934 No chr10 43050888 43051175 42555440 42555727 +PA28448 100128512 HGNC:4032 ENSG00000235964 FXYD domain containing ion transport regulator 6 pseudogene 2 FXYD6P2 Yes No Ensembl:ENSG00000235964, GenAtlas:FXYD6P2, GeneCard:FXYD6P2, HGNC:HGNC:4032, NCBI Gene:100128512 No chr10 38380692 38380979 38091764 38092051 +PA134868718 406875 HGNC:31124 ENSG00000182707 FXYD domain containing ion transport regulator 6 pseudogene 3 FXYD6P3 Yes No Ensembl:ENSG00000182707, GeneCard:FXYD6P3, HGNC:HGNC:31124, ModBase:P58550, NCBI Gene:406875, RefSeq DNA:NG_009946, RefSeq DNA:NT_011669 No chrX 73095344 73096795 73875509 73876960 +PA28450 53822 HGNC:4034 ENSG00000221946 FXYD domain containing ion transport regulator 7 FXYD7 Yes No Comparative Toxicogenomics Database:53822, Ensembl:ENSG00000221946, GenAtlas:FXYD7, GeneCard:FXYD7, HGNC:HGNC:4034, ModBase:P58549, NCBI Gene:53822, OMIM:606684, RefSeq DNA:NT_011109, RefSeq Protein:NP_071289, RefSeq RNA:NM_022006, UCSC Genome Browser:NM_022006, UniProtKB:P58549 No chr19 35634154 35645205 35143250 35154302 +PA28452 2533 HGNC:4036 ENSG00000082074 FYN binding protein 1 FYB1 FYN binding protein, adhesion and degranulation promoting adaptor protein ADAP, FYB, FYB-120/130, SLAP-130 Yes No Comparative Toxicogenomics Database:2533, Ensembl:ENSG00000082074, GenAtlas:FYB, GeneCard:FYB, HGNC:HGNC:4036, HumanCyc Gene:HS01411, ModBase:O15117, NCBI Gene:2533, OMIM:602731, RefSeq DNA:NT_006576, RefSeq Protein:NP_001456, RefSeq Protein:NP_955367, RefSeq RNA:NM_001465, RefSeq RNA:NM_199335, UCSC Genome Browser:NM_001465, UniProtKB:O15117, UniProtKB:Q05DE9 No chr5 39105354 39270759 39105252 39274523 +PA142672418 199920 HGNC:27295 ENSG00000187889 FYN binding protein 2 FYB2 """activation-dependent, raft-recruited ADAP-like phosphoprotein"", ""chromosome 1 open reading frame 168""" ARAP, C1orf168, FLJ43208, RP4-758N20.2 Yes No Ensembl:ENSG00000187889, GeneCard:C1orf168, HGNC:HGNC:27295, ModBase:Q5VWT5, NCBI Gene:199920, RefSeq DNA:NT_032977, RefSeq Protein:NP_001004303, RefSeq RNA:NM_001004303, UniProtKB:Q5VWT5 No chr1 57184477 57285369 56718804 56831985 +PA28453 79443 HGNC:14673 ENSG00000163820 FYVE and coiled-coil domain autophagy adaptor 1 FYCO1 FYVE and coiled-coil domain containing 1 FLJ13335, ZFYVE7 Yes No Ensembl:ENSG00000163820, GenAtlas:FYCO1, GeneCard:FYCO1, HGNC:HGNC:14673, HumanCyc Gene:HS08947, ModBase:Q9BQS8, NCBI Gene:79443, OMIM:607182, RefSeq DNA:NT_022517, RefSeq Protein:NP_078789, RefSeq RNA:NM_024513, UCSC Genome Browser:NM_024513, UniProtKB:Q9BQS8 No chr3 45959391 46037316 45917899 45995824 +PA28454 2534 HGNC:4037 ENSG00000010810 FYN proto-oncogene, Src family tyrosine kinase FYN FYN oncogene related to SRC, FGR, YES MGC45350, SLK, SYN Yes Yes Comparative Toxicogenomics Database:2534, Ensembl:ENSG00000010810, GenAtlas:FYN, GeneCard:FYN, HGNC:HGNC:4037, HumanCyc Gene:HS00293, ModBase:P06241, NCBI Gene:2534, OMIM:137025, RefSeq DNA:NT_025741, RefSeq Protein:NP_001229708, RefSeq Protein:NP_002028, RefSeq Protein:NP_694592, RefSeq Protein:NP_694593, RefSeq RNA:NM_001242779, RefSeq RNA:NM_002037, RefSeq RNA:NM_153047, RefSeq RNA:NM_153048, UCSC Genome Browser:NM_002037, UniProtKB:P06241 No chr6 111981535 112194655 111660332 111873452 +PA134946373 84248 HGNC:25407 ENSG00000122068 forty-two-three domain containing 1 FYTTD1 UAP56-interacting factor DKFZp761B1514, UIF Yes No Comparative Toxicogenomics Database:84248, Ensembl:ENSG00000122068, GeneCard:FYTTD1, HGNC:HGNC:25407, HumanCyc Gene:HS13040, NCBI Gene:84248, RefSeq DNA:NT_029928, RefSeq Protein:NP_001011537, RefSeq Protein:NP_115664, RefSeq RNA:NM_001011537, RefSeq RNA:NM_032288, RefSeq RNA:NR_027840, UniProtKB:Q96QD9 No chr3 197476424 197511317 197749553 197784446 +PA28455 8321 HGNC:4038 ENSG00000157240 frizzled class receptor 1 FZD1 """Frizzled-1"", ""Wnt receptor"", ""frizzled family receptor 1"", ""frizzled, Drosophila, homolog of, 1""" DKFZp564G072, Hfz1 Yes No Comparative Toxicogenomics Database:8321, Ensembl:ENSG00000157240, GenAtlas:FZD1, GeneCard:FZD1, HGNC:HGNC:4038, HumanCyc Gene:HS08196, IUPHAR Receptor:229, ModBase:Q9UP38, NCBI Gene:8321, OMIM:603408, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_003496, RefSeq RNA:NM_003505, UCSC Genome Browser:NM_003505, UniProtKB:Q9UP38 No chr7 90893783 90898132 91264468 91268817 +PA28456 11211 HGNC:4039 ENSG00000111432 frizzled class receptor 10 FZD10 Frizzled-10, frizzled family receptor 10 CD350 Yes No Comparative Toxicogenomics Database:11211, Ensembl:ENSG00000111432, GenAtlas:FZD10, GeneCard:FZD10, HGNC:HGNC:4039, HumanCyc Gene:HS03417, IUPHAR Receptor:238, ModBase:Q9ULW2, NCBI Gene:11211, OMIM:606147, RefSeq DNA:NT_009755, RefSeq Protein:NP_009128, RefSeq RNA:NM_007197, UCSC Genome Browser:NM_007197, UniProtKB:Q9ULW2 No chr12 130647004 130650285 130162459 130165740 +PA28457 2535 HGNC:4040 ENSG00000180340 frizzled class receptor 2 FZD2 frizzled family receptor 2 Yes No Comparative Toxicogenomics Database:2535, Ensembl:ENSG00000180340, GenAtlas:FZD2, GeneCard:FZD2, HGNC:HGNC:4040, HumanCyc Gene:HS11485, IUPHAR Receptor:230, ModBase:Q14332, NCBI Gene:2535, OMIM:600667, RefSeq DNA:NT_010783, RefSeq Protein:NP_001457, RefSeq RNA:NM_001466, UCSC Genome Browser:NM_001466, UniProtKB:Q14332 No chr17 42634812 42638630 44557444 44561262 +PA28458 7976 HGNC:4041 ENSG00000104290 frizzled class receptor 3 FZD3 Frizzled-3, frizzled family receptor 3 Fz-3 Yes Yes Ensembl:ENSG00000104290, GenAtlas:FZD3, GeneCard:FZD3, HGNC:HGNC:4041, HumanCyc Gene:HS02559, IUPHAR Receptor:231, ModBase:Q9NPG1, NCBI Gene:7976, OMIM:606143, RefSeq DNA:NT_167187, RefSeq Protein:NP_059108, RefSeq Protein:NP_665873, RefSeq RNA:NM_017412, RefSeq RNA:NM_145866, UCSC Genome Browser:NM_017412, UniProtKB:Q9NPG1 No chr8 28351722 28431785 28494205 28574268 +PA28459 8322 HGNC:4042 ENSG00000174804 frizzled class receptor 4 FZD4 frizzled family receptor 4 CD344, EVR1 Yes Yes Comparative Toxicogenomics Database:8322, Ensembl:ENSG00000174804, GenAtlas:FZD4, GeneCard:FZD4, HGNC:HGNC:4042, HumanCyc Gene:HS10832, IUPHAR Receptor:232, ModBase:Q9ULV1, NCBI Gene:8322, OMIM:133780, OMIM:604579, RefSeq DNA:NG_011752, RefSeq DNA:NT_167190, RefSeq Protein:NP_036325, RefSeq RNA:NM_012193, UCSC Genome Browser:NM_012193, UniProtKB:Q9ULV1 No chr11 86656717 86666440 86945675 86955398 +PA28460 7855 HGNC:4043 ENSG00000163251 frizzled class receptor 5 FZD5 frizzled family receptor 5 C2orf31, DKFZP434E2135, HFZ5 Yes No Comparative Toxicogenomics Database:7855, Ensembl:ENSG00000163251, GenAtlas:FZD5, GeneCard:FZD5, HGNC:HGNC:4043, HumanCyc Gene:HS08814, IUPHAR Receptor:233, ModBase:Q13467, NCBI Gene:7855, OMIM:601723, RefSeq DNA:NT_005403, RefSeq Protein:NP_003459, RefSeq RNA:NM_003468, UCSC Genome Browser:NM_003468, UniProtKB:Q13467 No chr2 208627310 208634143 207762586 207769419 +PA28461 8323 HGNC:4044 ENSG00000164930 frizzled class receptor 6 FZD6 frizzled family receptor 6 Hfz6 Yes No Comparative Toxicogenomics Database:8323, Ensembl:ENSG00000164930, GenAtlas:FZD6, GeneCard:FZD6, HGNC:HGNC:4044, HumanCyc Gene:HS09161, IUPHAR Receptor:234, ModBase:O60353, NCBI Gene:8323, OMIM:603409, RefSeq DNA:NT_008046, RefSeq Protein:NP_001158087, RefSeq Protein:NP_001158088, RefSeq Protein:NP_003497, RefSeq RNA:NM_001164615, RefSeq RNA:NM_001164616, RefSeq RNA:NM_003506, UCSC Genome Browser:NM_003506, UniProtKB:B4DRN0, UniProtKB:O60353 No chr8 104310661 104345094 103298433 103332866 +PA28462 8324 HGNC:4045 ENSG00000155760 frizzled class receptor 7 FZD7 Frizzled-7, frizzled family receptor 7 FzE3 Yes No Comparative Toxicogenomics Database:8324, Ensembl:ENSG00000155760, GenAtlas:FZD7, GeneCard:FZD7, HGNC:HGNC:4045, HumanCyc Gene:HS08066, IUPHAR Receptor:235, ModBase:O75084, NCBI Gene:8324, OMIM:603410, RefSeq DNA:NT_005403, RefSeq Protein:NP_003498, RefSeq RNA:NM_003507, UCSC Genome Browser:NM_003507, UniProtKB:O75084 No chr2 202899310 202903160 202034587 202038437 +PA28463 8325 HGNC:4046 ENSG00000177283 frizzled class receptor 8 FZD8 Frizzled-8, frizzled family receptor 8 FZ-8 Yes No Comparative Toxicogenomics Database:8325, Ensembl:ENSG00000177283, GenAtlas:FZD8, GeneCard:FZD8, HGNC:HGNC:4046, HumanCyc Gene:HS11150, IUPHAR Receptor:236, ModBase:Q9H461, NCBI Gene:8325, OMIM:606146, RefSeq DNA:NT_008705, RefSeq Protein:NP_114072, RefSeq RNA:NM_031866, UCSC Genome Browser:NM_031866, UniProtKB:Q9H461 No chr10 35927177 35930362 35638249 35641434 +PA28464 8326 HGNC:4047 ENSG00000188763 frizzled class receptor 9 FZD9 Frizzled-9, frizzled family receptor 9 CD349, FZD3 Yes No Comparative Toxicogenomics Database:8326, Ensembl:ENSG00000188763, GenAtlas:FZD9, GeneCard:FZD9, HGNC:HGNC:4047, IUPHAR Receptor:237, ModBase:O00144, NCBI Gene:8326, OMIM:601766, RefSeq DNA:NG_012028, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_003499, RefSeq RNA:NM_003508, UCSC Genome Browser:NM_003508, UniProtKB:O00144 No chr7 72848109 72850450 73433779 73436120 +PA134896003 51343 HGNC:24824 ENSG00000105325 fizzy and cell division cycle 20 related 1 FZR1 CDC20 homolog 1, fizzy/cell division cycle 20 related 1 (Drosophila) CDC20C, CDH1, FZR, FZR2, HCDH, HCDH1, KIAA1242 Yes No Comparative Toxicogenomics Database:51343, Ensembl:ENSG00000105325, GeneCard:FZR1, HGNC:HGNC:24824, HumanCyc Gene:HS02713, ModBase:Q9Y2T8, NCBI Gene:51343, OMIM:603619, RefSeq DNA:NT_011255, RefSeq Protein:NP_001129669, RefSeq Protein:NP_001129670, RefSeq Protein:NP_057347, RefSeq RNA:NM_001136197, RefSeq RNA:NM_001136198, RefSeq RNA:NM_016263, UniProtKB:Q9UM11 No chr19 3506261 3536755 3506115 3536757 +PA142671707 50486 HGNC:30229 ENSG00000123689 G0/G1 switch 2 G0S2 G0/G1switch 2, putative lymphocyte G0/G1 switch gene Yes No Comparative Toxicogenomics Database:50486, Ensembl:ENSG00000123689, GeneCard:G0S2, HGNC:HGNC:30229, HumanCyc Gene:HS04685, NCBI Gene:50486, RefSeq DNA:NT_167186, RefSeq Protein:NP_056529, RefSeq RNA:NM_015714, UniProtKB:P27469, UniProtKB:Q6FGC8 No chr1 209848670 209849735 209675325 209676390 +PA164720127 55632 HGNC:20338 ENSG00000092140 G2/M-phase specific E3 ubiquitin protein ligase G2E3 PHD finger protein 7B FLJ20333, KIAA1333, PHF7B Yes No Ensembl:ENSG00000092140, GeneCard:G2E3, HGNC:HGNC:20338, HumanCyc Gene:HS01760, NCBI Gene:55632, OMIM:611299, RefSeq DNA:NT_026437, RefSeq Protein:NP_060239, RefSeq RNA:NM_017769, UniProtKB:Q7L622 No chr14 31028329 31089046 30559123 30620064 +PA162389105 10146 HGNC:30292 ENSG00000145907 G3BP stress granule assembly factor 1 G3BP1 DNA helicase VIII, GTPase activating protein (SH3 domain) binding protein 1, Ras-GTPase-activating protein SH3-domain-binding protein G3BP, HDH-VIII Yes No Ensembl:ENSG00000145907, GeneCard:G3BP1, HGNC:HGNC:30292, HumanCyc Gene:HS07300, ModBase:Q13283, NCBI Gene:10146, OMIM:608431, RefSeq DNA:NT_029289, RefSeq Protein:NP_005745, RefSeq Protein:NP_938405, RefSeq RNA:NM_005754, RefSeq RNA:NM_198395, UniProtKB:Q13283, UniProtKB:Q5HYE9, UniProtKB:Q5U0Q1, UniProtKB:Q6ZP53 No chr5 151151476 151184915 151771915 151811352 +PA162389134 9908 HGNC:30291 ENSG00000138757 G3BP stress granule assembly factor 2 G3BP2 GTPase activating protein (SH3 domain) binding protein 2, Ras-GTPase activating protein SH3 domain-binding protein 2 KIAA0660 Yes No Ensembl:ENSG00000138757, GeneCard:G3BP2, HGNC:HGNC:30291, HumanCyc Gene:HS06549, ModBase:Q9UN86, NCBI Gene:9908, RefSeq DNA:NT_016354, RefSeq Protein:NP_036429, RefSeq Protein:NP_987100, RefSeq Protein:NP_987101, RefSeq RNA:NM_012297, RefSeq RNA:NM_203504, RefSeq RNA:NM_203505, UniProtKB:Q9UN86 No chr4 76567953 76649709 75642769 75724525 +PA166351807 2538 HGNC:4056 glucose-6-phosphatase catalytic subunit 1 G6PC1 glycogen storage disease type I, von Gierke disease G6PC, G6PT, GSD1a Yes No HGNC:HGNC:4056, NCBI Gene:2538 No 0 0 0 0 +PA134944773 57818 HGNC:28906 ENSG00000152254 glucose-6-phosphatase catalytic subunit 2 G6PC2 """glucose-6-phosphatase, catalytic, 2"", ""islet specific glucose 6 phosphatase catalytic subunit related protein""" IGRP Yes No Ensembl:ENSG00000152254, GeneCard:G6PC2, HGNC:HGNC:28906, HumanCyc Gene:HS14422, ModBase:Q9NQR9, NCBI Gene:57818, OMIM:608058, OMIM:612108, RefSeq DNA:NG_011682, RefSeq DNA:NT_005403, RefSeq Protein:NP_001075155, RefSeq Protein:NP_066999, RefSeq RNA:NM_001081686, RefSeq RNA:NM_021176, UniProtKB:Q9NQR9 No chr2 169757750 169766510 168901223 168910000 +PA134968446 92579 HGNC:24861 ENSG00000141349 glucose-6-phosphatase catalytic subunit 3 G6PC3 """Ubiquitous glucose-6-phosphatase catalytic subunit-related protein"", ""glucose 6 phosphatase, catalytic, 3""" UGRP Yes No Comparative Toxicogenomics Database:92579, Ensembl:ENSG00000141349, GeneCard:G6PC3, HGNC:HGNC:24861, HumanCyc Gene:HS13873, ModBase:Q9BUM1, NCBI Gene:92579, OMIM:611045, OMIM:612541, RefSeq DNA:NG_015818, RefSeq DNA:NT_010783, RefSeq Protein:NP_612396, RefSeq RNA:NM_001384165, RefSeq RNA:NM_001384166, RefSeq RNA:NM_138387, UniProtKB:Q9BUM1 No chr17 42148098 42153712 44070700 44076344 +PA28469 2539 HGNC:4057 ENSG00000160211 glucose-6-phosphate dehydrogenase G6PD G6PD1 Yes Yes Comparative Toxicogenomics Database:2539, Ensembl:ENSG00000160211, GenAtlas:G6PD, GeneCard:G6PD, HGNC:HGNC:4057, HumanCyc Gene:HS08467, NCBI Gene:2539, OMIM:305900, RefSeq DNA:NG_009015.2, RefSeq Protein:NP_000393, RefSeq Protein:NP_001035810, RefSeq RNA:NM_000402, RefSeq RNA:NM_001042351, UCSC Genome Browser:NM_000402, UniProtKB:P11413 Yes chrX 153759606 153775796 154531390 154547586 +PA28471 2541 HGNC:4059 glucose-6-phosphatase regulator G6PR Yes No GenAtlas:G6PR, GeneCard:G6PR, HGNC:HGNC:4059, NCBI Gene:2541 No +PA28476 2548 HGNC:4065 ENSG00000171298 alpha glucosidase GAA """Pompe disease"", ""glucosidase alpha, acid"", ""glucosidase, alpha; acid"", ""glycogen storage disease type II""" Yes No Comparative Toxicogenomics Database:2548, Ensembl:ENSG00000171298, GenAtlas:GAA, GeneCard:GAA, HGNC:HGNC:4065, HumanCyc Gene:HS10282, ModBase:P10253, NCBI Gene:2548, OMIM:232300, OMIM:606800, RefSeq DNA:NG_009822, RefSeq DNA:NT_010783, RefSeq Protein:NP_000143, RefSeq Protein:NP_001073271, RefSeq Protein:NP_001073272, RefSeq RNA:NM_000152, RefSeq RNA:NM_001079803, RefSeq RNA:NM_001079804, UCSC Genome Browser:NM_000152, UniProtKB:A6NFM4, UniProtKB:P10253 No chr17 78075339 78093680 80101526 80119882 +PA28477 2549 HGNC:4066 ENSG00000109458 GRB2 associated binding protein 1 GAB1 GRB2-associated binding protein 1 DFNB26 Yes No Comparative Toxicogenomics Database:2549, Ensembl:ENSG00000109458, GenAtlas:GAB1, GeneCard:GAB1, HGNC:HGNC:4066, HumanCyc Gene:HS03228, ModBase:Q13480, NCBI Gene:2549, OMIM:604439, RefSeq DNA:NT_016354, RefSeq Protein:NP_002030, RefSeq Protein:NP_997006, RefSeq RNA:NM_002039, RefSeq RNA:NM_207123, UCSC Genome Browser:NM_002039, UniProtKB:Q13480, UniProtKB:Q9HA84 No chr4 144257680 144395718 143336830 143474565 +PA28478 9846 HGNC:14458 ENSG00000033327 GRB2 associated binding protein 2 GAB2 GRB2-associated binding protein 2, Grb2-associated binder 2 KIAA0571 Yes No Comparative Toxicogenomics Database:9846, Ensembl:ENSG00000033327, GenAtlas:GAB2, GeneCard:GAB2, HGNC:HGNC:14458, HumanCyc Gene:HS12081, ModBase:Q9UQC2, NCBI Gene:9846, OMIM:606203, RefSeq DNA:NG_016171, RefSeq DNA:NT_167190, RefSeq Protein:NP_036428, RefSeq Protein:NP_536739, RefSeq RNA:NM_012296, RefSeq RNA:NM_080491, UCSC Genome Browser:NM_012296, UniProtKB:A7MD36, UniProtKB:Q9UQC2 No chr11 77926336 78128868 78215290 78417822 +PA28479 139716 HGNC:17515 ENSG00000160219 GRB2 associated binding protein 3 GAB3 DOS/Gab family member 3, GRB2-associated binding protein 3, Gab3 scaffolding protein Yes No Ensembl:ENSG00000160219, GenAtlas:GAB3, GeneCard:GAB3, HGNC:HGNC:17515, HumanCyc Gene:HS14800, ModBase:Q8WWW8, NCBI Gene:139716, OMIM:300482, RefSeq DNA:NG_012834, RefSeq DNA:NT_167198, RefSeq Protein:NP_001075042, RefSeq Protein:NP_542179, RefSeq RNA:NM_001081573, RefSeq RNA:NM_080612, UCSC Genome Browser:NM_080612, UniProtKB:Q8WWW8 No chrX 153903526 153979855 154675249 154751583 +PA134933290 128954 HGNC:18325 ENSG00000215568 GRB2 associated binding protein family member 4 GAB4 GRB2-associated binding protein family, member 4 Yes No Ensembl:ENSG00000215568, GeneCard:GAB4, HGNC:HGNC:18325, ModBase:Q2WGN9, NCBI Gene:128954, RefSeq DNA:NT_011519, RefSeq Protein:NP_001032903, RefSeq RNA:NM_001037814, UniProtKB:Q2WGN9 No chr22 17442826 17489112 16961936 17008281 +PA28480 11337 HGNC:4067 ENSG00000170296 GABA type A receptor-associated protein GABARAP GABA(A) receptor-associated protein ATG8A, MM46 Yes No Comparative Toxicogenomics Database:11337, Ensembl:ENSG00000170296, GenAtlas:GABARAP, GeneCard:GABARAP, HGNC:HGNC:4067, HumanCyc Gene:HS10097, ModBase:O95166, NCBI Gene:11337, OMIM:605125, RefSeq DNA:NT_010718, RefSeq Protein:NP_009209, RefSeq RNA:NM_007278, UCSC Genome Browser:NM_007278, UniProtKB:O95166, UniProtKB:Q6IAW1 No chr17 7143738 7145753 7240419 7242434 +PA28481 23710 HGNC:4068 ENSG00000139112 GABA type A receptor associated protein like 1 GABARAPL1 GABA(A) receptor-associated protein like 1 APG8L, ATG8B, ATG8L, gec1 Yes No Comparative Toxicogenomics Database:23710, Ensembl:ENSG00000139112, GenAtlas:GABARAPL1, GeneCard:GABARAPL1, HGNC:HGNC:4068, HumanCyc Gene:HS06579, ModBase:Q9H0R8, NCBI Gene:23710, OMIM:607420, RefSeq DNA:NT_009714, RefSeq Protein:NP_113600, RefSeq RNA:NM_031412, UCSC Genome Browser:NM_031412, UniProtKB:Q9H0R8 No chr12 10365435 10375727 10212841 10223128 +PA28482 11345 HGNC:13291 ENSG00000034713 GABA type A receptor associated protein like 2 GABARAPL2 GABA(A) receptor-associated protein-like 2 ATG8, ATG8C, GATE-16, GATE16, GEF2 Yes No Comparative Toxicogenomics Database:11345, Ensembl:ENSG00000034713, GenAtlas:GABARAPL2, GeneCard:GABARAPL2, HGNC:HGNC:13291, HumanCyc Gene:HS00504, ModBase:P60520, NCBI Gene:11345, OMIM:607452, RefSeq DNA:NT_010498, RefSeq Protein:NP_009216, RefSeq RNA:NM_007285, UCSC Genome Browser:NM_007285, UniProtKB:P60520, UniProtKB:Q6FG91 No chr16 75600249 75611779 75566351 75577881 +PA28483 23766 HGNC:4069 ENSG00000279980 GABA(A) receptors associated protein like 3, pseudogene GABARAPL3 ATG8D Yes No Comparative Toxicogenomics Database:23766, Ensembl:ENSG00000279980, GenAtlas:GABARAPL3, GeneCard:GABARAPL3, HGNC:HGNC:4069, ModBase:Q9BY60, NCBI Gene:23766, RefSeq DNA:NG_005645, RefSeq DNA:NT_010274, RefSeq RNA:NR_028287, UCSC Genome Browser:NM_032568 No chr15 90889759 90892679 90346527 90349447 +PA28484 2550 HGNC:4070 ENSG00000204681, ENSG00000206466, ENSG00000206511, ENSG00000232569, ENSG00000232632, ENSG00000237051, ENSG00000237112 gamma-aminobutyric acid type B receptor subunit 1 GABBR1 """GABA-B receptor"", ""gamma-aminobutyric acid (GABA) B receptor, 1""" GPRC3A, hGB1a Yes No Comparative Toxicogenomics Database:2550, Ensembl:ENSG00000204681, Ensembl:ENSG00000206466, Ensembl:ENSG00000206511, Ensembl:ENSG00000232569, Ensembl:ENSG00000232632, Ensembl:ENSG00000237051, Ensembl:ENSG00000237112, GenAtlas:GABBR1, GeneCard:GABBR1, HGNC:HGNC:4070, IUPHAR Receptor:240, ModBase:Q9UBS5, NCBI Gene:2550, OMIM:603540, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001461, RefSeq Protein:NP_068703, RefSeq Protein:NP_068704, RefSeq Protein:NP_068705, RefSeq RNA:NM_001470, RefSeq RNA:NM_021903, RefSeq RNA:NM_021904, RefSeq RNA:NM_021905, UCSC Genome Browser:NM_001470, UniProtKB:Q5SUJ9, UniProtKB:Q8IW08, UniProtKB:Q9UBS5 No chr6 29570005 29600962 29602228 29633135 +PA28896 9568 HGNC:4507 ENSG00000136928 gamma-aminobutyric acid type B receptor subunit 2 GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 GABABR2, GPR51, GPRC3B, HG20 Yes Yes Comparative Toxicogenomics Database:9568, Ensembl:ENSG00000136928, GenAtlas:GABBR2, GeneCard:GABBR2, HGNC:HGNC:4507, HumanCyc Gene:HS06244, IUPHAR Receptor:241, ModBase:O75899, NCBI Gene:9568, OMIM:188890, OMIM:607340, RefSeq DNA:NG_016426, RefSeq DNA:NT_008470, RefSeq Protein:NP_005449, RefSeq RNA:NM_005458, UCSC Genome Browser:NM_005458, UniProtKB:O75899 No chr9 101050364 101471479 98288082 98709197 +PA28485 2551 HGNC:4071 ENSG00000154727 GA binding protein transcription factor subunit alpha GABPA """GA binding protein transcription factor, alpha subunit 60kDa"", ""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit""" E4TF1-60, E4TF1A, NFT2, NRF2, NRF2A Yes No Comparative Toxicogenomics Database:2551, Ensembl:ENSG00000154727, GenAtlas:GABPA, GeneCard:GABPA, HGNC:HGNC:4071, HumanCyc Gene:HS08004, ModBase:Q06546, NCBI Gene:2551, OMIM:600609, RefSeq DNA:NT_011512, RefSeq DNA:NT_079593, RefSeq Protein:NP_001184226, RefSeq Protein:NP_002031, RefSeq RNA:NM_001197297, RefSeq RNA:NM_002040, UCSC Genome Browser:NM_002040, UniProtKB:A8IE48, UniProtKB:Q06546, UniProtKB:Q8IYS3 No chr21 27107258 27144771 25734947 25772460 +PA28486 8327 HGNC:4072 ENSG00000235720 GA binding protein transcription factor, alpha subunit pseudogene GABPAP E4TF1, E4TF1B Yes No Ensembl:ENSG00000235720, GenAtlas:GABPAP, GeneCard:GABPAP, HGNC:HGNC:4072, NCBI Gene:8327, RefSeq DNA:NG_007342, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593 No chr7 63353627 63358288 63893249 63897910 +PA162389163 2553 HGNC:4074 ENSG00000104064 GA binding protein transcription factor subunit beta 1 GABPB1 GA binding protein transcription factor, beta subunit 1 E4TF1-47, GABPB, GABPB2 Yes No Ensembl:ENSG00000104064, GeneCard:GABPB1, HGNC:HGNC:4074, ModBase:Q06547, NCBI Gene:2553, OMIM:600610, RefSeq DNA:NT_010194, RefSeq Protein:NP_002032, RefSeq Protein:NP_005245, RefSeq Protein:NP_057738, RefSeq Protein:NP_057739, RefSeq Protein:NP_852092, RefSeq RNA:NM_002041, RefSeq RNA:NM_005254, RefSeq RNA:NM_016654, RefSeq RNA:NM_016655, RefSeq RNA:NM_181427, UniProtKB:Q06547 No chr15 50569389 50647605 50277192 50355429 +PA164741559 126626 HGNC:28441 ENSG00000143458 GA binding protein transcription factor subunit beta 2 GABPB2 GA binding protein transcription factor, beta subunit 2 MGC29891 Yes No Ensembl:ENSG00000143458, GeneCard:GABPB2, HGNC:HGNC:28441, HumanCyc Gene:HS13967, ModBase:Q8TAK5, NCBI Gene:126626, RefSeq DNA:NT_004487, RefSeq Protein:NP_653219, RefSeq RNA:NM_144618, UniProtKB:Q8TAK5 No chr1 151042784 151091007 151070180 151125545 +PA28489 2554 HGNC:4075 ENSG00000022355 gamma-aminobutyric acid type A receptor subunit alpha1 GABRA1 """GABA(A) receptor, alpha 1"", ""gamma-aminobutyric acid (GABA) A receptor, alpha 1"", ""gamma-aminobutyric acid type A receptor alpha1 subunit""" EJM5 Yes Yes Comparative Toxicogenomics Database:2554, Ensembl:ENSG00000022355, GenAtlas:GABRA1, GeneCard:GABRA1, HGNC:HGNC:4075, HumanCyc Gene:HS00418, IUPHAR Receptor:404, ModBase:P14867, NCBI Gene:2554, OMIM:137160, OMIM:254770, OMIM:611136, RefSeq DNA:NG_011548, RefSeq DNA:NT_023133, RefSeq Protein:NP_000797, RefSeq Protein:NP_001121115, RefSeq Protein:NP_001121116, RefSeq Protein:NP_001121117, RefSeq Protein:NP_001121118, RefSeq Protein:NP_001121119, RefSeq Protein:NP_001121120, RefSeq RNA:NM_000806, RefSeq RNA:NM_001127643, RefSeq RNA:NM_001127644, RefSeq RNA:NM_001127645, RefSeq RNA:NM_001127646, RefSeq RNA:NM_001127647, RefSeq RNA:NM_001127648, UCSC Genome Browser:NM_000806, UniProtKB:A8K177, UniProtKB:P14867 No chr5 161274197 161326965 161847191 161899959 +PA28490 2555 HGNC:4076 ENSG00000151834 gamma-aminobutyric acid type A receptor subunit alpha2 GABRA2 """GABA(A) receptor, alpha 2"", ""gamma-aminobutyric acid (GABA) A receptor, alpha 2"", ""gamma-aminobutyric acid type A receptor alpha2 subunit""" Yes Yes Comparative Toxicogenomics Database:2555, Ensembl:ENSG00000151834, GenAtlas:GABRA2, GeneCard:GABRA2, HGNC:HGNC:4076, HumanCyc Gene:HS07773, IUPHAR Receptor:405, ModBase:P47869, NCBI Gene:2555, OMIM:103780, OMIM:137140, RefSeq DNA:NG_012835, RefSeq DNA:NT_006238, RefSeq Protein:NP_000798, RefSeq Protein:NP_001107647, RefSeq RNA:NM_000807, RefSeq RNA:NM_001114175, UCSC Genome Browser:NM_000807, UniProtKB:A8K0U7, UniProtKB:P47869 No chr4 46246470 46392056 46243548 46390039 +PA28491 2556 HGNC:4077 ENSG00000011677 gamma-aminobutyric acid type A receptor subunit alpha3 GABRA3 """GABA(A) receptor, alpha 3"", ""gamma-aminobutyric acid (GABA) A receptor, alpha 3"", ""gamma-aminobutyric acid type A receptor alpha3 subunit""" Yes Yes Comparative Toxicogenomics Database:2556, Ensembl:ENSG00000011677, GenAtlas:GABRA3, GeneCard:GABRA3, HGNC:HGNC:4077, HumanCyc Gene:HS00325, IUPHAR Receptor:406, ModBase:P34903, NCBI Gene:2556, OMIM:305660, RefSeq DNA:NG_007102, RefSeq DNA:NT_167198, RefSeq Protein:NP_000799, RefSeq RNA:NM_000808, UCSC Genome Browser:NM_000808, UniProtKB:P34903 No chrX 151334706 151619831 152166234 152451359 +PA28492 2557 HGNC:4078 ENSG00000109158 gamma-aminobutyric acid type A receptor subunit alpha4 GABRA4 """GABA(A) receptor, alpha 4"", ""gamma-aminobutyric acid (GABA) A receptor, alpha 4"", ""gamma-aminobutyric acid type A receptor alpha4 subunit""" Yes No Comparative Toxicogenomics Database:2557, Ensembl:ENSG00000109158, GenAtlas:GABRA4, GeneCard:GABRA4, HGNC:HGNC:4078, HumanCyc Gene:HS03206, IUPHAR Receptor:407, ModBase:P48169, NCBI Gene:2557, OMIM:137141, RefSeq DNA:NG_011809, RefSeq DNA:NT_006238, RefSeq Protein:NP_000800, RefSeq Protein:NP_001191195, RefSeq Protein:NP_001191196, RefSeq RNA:NM_000809, RefSeq RNA:NM_001204266, RefSeq RNA:NM_001204267, UCSC Genome Browser:NM_000809, UniProtKB:P48169 No chr4 46920917 46996424 46918900 46994407 +PA28493 2558 HGNC:4079 ENSG00000186297 gamma-aminobutyric acid type A receptor subunit alpha5 GABRA5 """GABA(A) receptor, alpha 5"", ""gamma-aminobutyric acid (GABA) A receptor, alpha 5"", ""gamma-aminobutyric acid type A receptor alpha5 subunit""" Yes No Comparative Toxicogenomics Database:2558, Ensembl:ENSG00000186297, GenAtlas:GABRA5, GeneCard:GABRA5, HGNC:HGNC:4079, IUPHAR Receptor:408, ModBase:P31644, NCBI Gene:2558, OMIM:137142, RefSeq DNA:NT_026446, RefSeq Protein:NP_000801, RefSeq Protein:NP_001158509, RefSeq RNA:NM_000810, RefSeq RNA:NM_001165037, UCSC Genome Browser:NM_000810, UniProtKB:P31644 No chr15 27111866 27194357 26866719 26949210 +PA28494 2559 HGNC:4080 ENSG00000145863 gamma-aminobutyric acid type A receptor subunit alpha6 GABRA6 """GABA(A) receptor, alpha 6"", ""gamma-aminobutyric acid (GABA) A receptor, alpha 6"", ""gamma-aminobutyric acid type A receptor alpha6 subunit""" Yes Yes Comparative Toxicogenomics Database:2559, Ensembl:ENSG00000145863, GenAtlas:GABRA6, GeneCard:GABRA6, HGNC:HGNC:4080, HumanCyc Gene:HS07294, IUPHAR Receptor:409, ModBase:Q16445, NCBI Gene:2559, OMIM:137143, RefSeq DNA:NT_023133, RefSeq Protein:NP_000802, RefSeq RNA:NM_000811, UCSC Genome Browser:NM_000811, UniProtKB:Q16445 No chr5 161112658 161129598 161685652 161702592 +PA28495 2560 HGNC:4081 ENSG00000163288 gamma-aminobutyric acid type A receptor subunit beta1 GABRB1 """GABA(A) receptor, beta 1"", ""gamma-aminobutyric acid (GABA) A receptor, beta 1"", ""gamma-aminobutyric acid type A receptor beta1 subunit""" Yes Yes Comparative Toxicogenomics Database:2560, Ensembl:ENSG00000163288, GenAtlas:GABRB1, GeneCard:GABRB1, HGNC:HGNC:4081, HumanCyc Gene:HS08821, IUPHAR Receptor:410, ModBase:P18505, NCBI Gene:2560, OMIM:137190, RefSeq DNA:NT_006238, RefSeq Protein:NP_000803, RefSeq RNA:NM_000812, UCSC Genome Browser:NM_000812, UniProtKB:P18505 No chr4 47033295 47432801 47031278 47438409 +PA28496 2561 HGNC:4082 ENSG00000145864 gamma-aminobutyric acid type A receptor subunit beta2 GABRB2 """GABA(A) receptor, beta 2"", ""gamma-aminobutyric acid (GABA) A receptor, beta 2"", ""gamma-aminobutyric acid type A receptor beta2 subunit""" Yes Yes Comparative Toxicogenomics Database:2561, Ensembl:ENSG00000145864, GenAtlas:GABRB2, GeneCard:GABRB2, HGNC:HGNC:4082, HumanCyc Gene:HS07295, IUPHAR Receptor:411, ModBase:P47870, NCBI Gene:2561, OMIM:600232, RefSeq DNA:NT_023133, RefSeq Protein:NP_000804, RefSeq Protein:NP_068711, RefSeq RNA:NM_000813, RefSeq RNA:NM_021911, UCSC Genome Browser:NM_000813, UniProtKB:P47870 No chr5 160715426 160975130 161288429 161548124 +PA28497 2562 HGNC:4083 ENSG00000166206 gamma-aminobutyric acid type A receptor subunit beta3 GABRB3 """GABA(A) receptor, beta 3"", ""gamma-aminobutyric acid (GABA) A receptor, beta 3"", ""gamma-aminobutyric acid type A receptor beta3 subunit""" Yes Yes Comparative Toxicogenomics Database:2562, Ensembl:ENSG00000166206, GenAtlas:GABRB3, GeneCard:GABRB3, HGNC:HGNC:4083, HumanCyc Gene:HS09355, IUPHAR Receptor:412, ModBase:P28472, NCBI Gene:2562, OMIM:137192, OMIM:612269, RefSeq DNA:NG_012836, RefSeq DNA:NT_026446, RefSeq Protein:NP_000805, RefSeq Protein:NP_001178249, RefSeq Protein:NP_001178250, RefSeq Protein:NP_068712, RefSeq RNA:NM_000814, RefSeq RNA:NM_001191320, RefSeq RNA:NM_001191321, RefSeq RNA:NM_021912, UCSC Genome Browser:NM_000814, UniProtKB:P28472 No chr15 26788693 27018935 26543546 26773788 +PA28498 2563 HGNC:4084 ENSG00000187730 gamma-aminobutyric acid type A receptor subunit delta GABRD """GABA(A) receptor, delta"", ""gamma-aminobutyric acid (GABA) A receptor, delta"", ""gamma-aminobutyric acid type A receptor delta subunit""" GABAARdelta Yes Yes Comparative Toxicogenomics Database:2563, Ensembl:ENSG00000187730, GenAtlas:GABRD, GeneCard:GABRD, HGNC:HGNC:4084, IUPHAR Receptor:416, ModBase:O14764, NCBI Gene:2563, OMIM:137163, OMIM:613060, RefSeq DNA:NG_008168, RefSeq DNA:NT_004350, RefSeq Protein:NP_000806, RefSeq RNA:NM_000815, UCSC Genome Browser:NM_000815, UniProtKB:A8K496, UniProtKB:O14764 No chr1 1950768 1962192 2019329 2030753 +PA28499 2564 HGNC:4085 ENSG00000102287 gamma-aminobutyric acid type A receptor subunit epsilon GABRE """GABA(A) receptor, epsilon"", ""gamma-aminobutyric acid (GABA) A receptor, epsilon"", ""gamma-aminobutyric acid type A receptor epsilon subunit""" Yes Yes Comparative Toxicogenomics Database:2564, Ensembl:ENSG00000102287, GenAtlas:GABRE, GeneCard:GABRE, HGNC:HGNC:4085, HumanCyc Gene:HS02378, IUPHAR Receptor:417, ModBase:P78334, NCBI Gene:2564, OMIM:300093, RefSeq DNA:NG_012511, RefSeq DNA:NT_167198, RefSeq Protein:NP_004952, RefSeq RNA:NM_004961, UCSC Genome Browser:NM_004961, UniProtKB:P78334, UniProtKB:Q6PCD2 No chrX 151121596 151143156 151953124 151974679 +PA28500 2565 HGNC:4086 ENSG00000163285 gamma-aminobutyric acid type A receptor subunit gamma1 GABRG1 """GABA(A) receptor, gamma"", ""gamma-aminobutyric acid (GABA) A receptor, gamma 1"", ""gamma-aminobutyric acid type A receptor gamma1 subunit""" Yes No Comparative Toxicogenomics Database:2565, Ensembl:ENSG00000163285, GenAtlas:GABRG1, GeneCard:GABRG1, HGNC:HGNC:4086, IUPHAR Receptor:413, ModBase:Q8N1C3, NCBI Gene:2565, OMIM:137166, RefSeq DNA:NT_006238, RefSeq Protein:NP_775807, RefSeq RNA:NM_173536, UCSC Genome Browser:NM_173536, UniProtKB:Q8N1C3 No chr4 46037786 46126082 46035769 46124065 +PA28501 2566 HGNC:4087 ENSG00000113327 gamma-aminobutyric acid type A receptor subunit gamma2 GABRG2 """GABA(A) receptor, gamma 2"", ""gamma-aminobutyric acid (GABA) A receptor, gamma 2"", ""gamma-aminobutyric acid type A receptor gamma2 subunit""" Yes Yes Comparative Toxicogenomics Database:2566, Ensembl:ENSG00000113327, GenAtlas:GABRG2, GeneCard:GABRG2, HGNC:HGNC:4087, HumanCyc Gene:HS03671, IUPHAR Receptor:414, ModBase:P18507, NCBI Gene:2566, OMIM:137164, OMIM:604233, OMIM:607208, OMIM:607681, OMIM:611277, RefSeq DNA:NG_009290, RefSeq DNA:NT_023133, RefSeq Protein:NP_000807, RefSeq Protein:NP_944493, RefSeq Protein:NP_944494, RefSeq RNA:NM_000816, RefSeq RNA:NM_198903, RefSeq RNA:NM_198904, UCSC Genome Browser:NM_000816, UniProtKB:C9JAR3, UniProtKB:P18507, UniProtKB:Q6PCC3 No chr5 161494648 161582545 162067642 162155539 +PA28502 2567 HGNC:4088 ENSG00000182256 gamma-aminobutyric acid type A receptor subunit gamma3 GABRG3 """GABA(G) receptor, gamma 3"", ""gamma-aminobutyric acid (GABA) A receptor, gamma 3"", ""gamma-aminobutyric acid type A receptor gamma3 subunit""" Yes Yes Comparative Toxicogenomics Database:2567, Ensembl:ENSG00000182256, GenAtlas:GABRG3, GeneCard:GABRG3, HGNC:HGNC:4088, IUPHAR Receptor:415, ModBase:Q99928, NCBI Gene:2567, OMIM:600233, RefSeq DNA:NT_026446, RefSeq Protein:NP_150092, RefSeq RNA:NM_033223, UCSC Genome Browser:NM_033223, UniProtKB:Q99928 No chr15 27216429 27778373 26971282 27537112 +PA28503 2568 HGNC:4089 ENSG00000094755 gamma-aminobutyric acid type A receptor subunit pi GABRP """GABA(A) receptor, pi"", ""gamma-aminobutyric acid (GABA) A receptor, pi"", ""gamma-aminobutyric acid type A receptor pi subunit""" Yes Yes Comparative Toxicogenomics Database:2568, Ensembl:ENSG00000094755, GenAtlas:GABRP, GeneCard:GABRP, HGNC:HGNC:4089, HumanCyc Gene:HS01801, IUPHAR Receptor:419, ModBase:O00591, NCBI Gene:2568, OMIM:602729, RefSeq DNA:NT_023133, RefSeq Protein:NP_055026, RefSeq RNA:NM_014211, UCSC Genome Browser:NM_014211, UniProtKB:O00591 No chr5 170210723 170241051 170783719 170814047 +PA28504 55879 HGNC:14454 ENSG00000268089 gamma-aminobutyric acid type A receptor subunit theta GABRQ """GABA(A) receptor, theta"", ""gamma-aminobutyric acid (GABA) A receptor, theta"", ""gamma-aminobutyric acid type A receptor theta subunit""" THETA Yes Yes Ensembl:ENSG00000268089, GenAtlas:GABRQ, GeneCard:GABRQ, HGNC:HGNC:14454, HumanCyc Gene:HS07426, IUPHAR Receptor:418, ModBase:Q9UN88, NCBI Gene:55879, OMIM:300349, RefSeq DNA:NG_015965, RefSeq DNA:NT_167198, RefSeq Protein:NP_061028, RefSeq RNA:NM_018558, UCSC Genome Browser:NM_018558, UniProtKB:Q9UN88 No chrX 151806637 151821825 152637895 152659827 +PA28505 2569 HGNC:4090 ENSG00000146276 gamma-aminobutyric acid type A receptor subunit rho1 GABRR1 """GABA(A) receptor, rho 1"", ""gamma-aminobutyric acid (GABA) A receptor, rho 1"", ""gamma-aminobutyric acid type A receptor rho1 subunit""" Yes No Comparative Toxicogenomics Database:2569, Ensembl:ENSG00000146276, GenAtlas:GABRR1, GeneCard:GABRR1, HGNC:HGNC:4090, HumanCyc Gene:HS07338, IUPHAR Receptor:420, ModBase:P24046, NCBI Gene:2569, OMIM:137161, RefSeq DNA:NT_007299, RefSeq Protein:NP_002033, RefSeq RNA:NM_002042, UCSC Genome Browser:NM_002042, UniProtKB:P24046 No chr6 89887223 89941007 89177504 89231288 +PA28506 2570 HGNC:4091 ENSG00000111886 gamma-aminobutyric acid type A receptor subunit rho2 GABRR2 """GABA(A) receptor, rho 2"", ""gamma-aminobutyric acid (GABA) A receptor, rho 2"", ""gamma-aminobutyric acid type A receptor rho2 subunit""" Yes No Comparative Toxicogenomics Database:2570, Ensembl:ENSG00000111886, GenAtlas:GABRR2, GeneCard:GABRR2, HGNC:HGNC:4091, HumanCyc Gene:HS03481, IUPHAR Receptor:421, ModBase:P28476, NCBI Gene:2570, OMIM:137162, RefSeq DNA:NT_007299, RefSeq Protein:NP_002034, RefSeq RNA:NM_002043, UCSC Genome Browser:NM_002043, UniProtKB:P28476 No chr6 89966840 90025018 89254464 89315299 +PA134952133 200959 HGNC:17969 ENSG00000183185 gamma-aminobutyric acid type A receptor subunit rho3 GABRR3 """GABA(A) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)"", ""gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene)""" Yes No Ensembl:ENSG00000183185, GeneCard:GABRR3, HGNC:HGNC:17969, IUPHAR Receptor:422, ModBase:A8MPY1, NCBI Gene:200959, RefSeq DNA:NT_005612, RefSeq Protein:NP_001099050, RefSeq RNA:NM_001105580, UniProtKB:A8MPY1 No chr3 97705527 97754148 97986683 98035304 +PA28507 2571 HGNC:4092 ENSG00000128683 glutamate decarboxylase 1 GAD1 glutamate decarboxylase 1 (brain, 67kDa) GAD Yes Yes Comparative Toxicogenomics Database:2571, Ensembl:ENSG00000128683, GenAtlas:GAD1, GeneCard:GAD1, HGNC:HGNC:4092, HumanCyc Gene:HS05215, ModBase:Q99259, NCBI Gene:2571, OMIM:603513, OMIM:605363, RefSeq DNA:NG_021477, RefSeq DNA:NT_005403, RefSeq Protein:NP_000808, RefSeq Protein:NP_038473, RefSeq RNA:NM_000817, RefSeq RNA:NM_013445, UCSC Genome Browser:NM_000817, UniProtKB:Q8IVA8, UniProtKB:Q99259 No chr2 171673200 171717661 170813210 170861151 +PA28508 2572 HGNC:4093 ENSG00000136750 glutamate decarboxylase 2 GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) GAD65 Yes Yes Comparative Toxicogenomics Database:2572, Ensembl:ENSG00000136750, GenAtlas:GAD2, GeneCard:GAD2, HGNC:HGNC:4093, HumanCyc Gene:HS06208, ModBase:Q05329, NCBI Gene:2572, OMIM:138275, RefSeq DNA:NT_008705, RefSeq Protein:NP_000809, RefSeq Protein:NP_001127838, RefSeq RNA:NM_000818, RefSeq RNA:NM_001134366, UCSC Genome Browser:NM_000818, UniProtKB:Q05329, UniProtKB:Q5VZ30 No chr10 26505236 26593491 26216307 26304562 +PA28510 1647 HGNC:4095 ENSG00000116717 growth arrest and DNA damage inducible alpha GADD45A growth arrest and DNA-damage-inducible, alpha DDIT1, GADD45 Yes No Comparative Toxicogenomics Database:1647, Ensembl:ENSG00000116717, GenAtlas:GADD45A, GeneCard:GADD45A, HGNC:HGNC:4095, HumanCyc Gene:HS04040, ModBase:P24522, NCBI Gene:1647, OMIM:126335, RefSeq DNA:NT_032977, RefSeq Protein:NP_001186670, RefSeq Protein:NP_001186671, RefSeq Protein:NP_001915, RefSeq RNA:NM_001199741, RefSeq RNA:NM_001199742, RefSeq RNA:NM_001924, UCSC Genome Browser:NM_001924, UniProtKB:P24522, UniProtKB:Q5TCA8 No chr1 68150860 68154021 67685177 67688338 +PA27192 1648 HGNC:2725 growth arrest and DNA-damage-inducible, alpha pseudogene 1 GADD45AP1 Yes No GenAtlas:GADD45AL, GeneCard:GADD45AP1, HGNC:HGNC:2725, NCBI Gene:1648 No chr12 88214598 88215346 87820921 87821469 +PA28511 4616 HGNC:4096 ENSG00000099860 growth arrest and DNA damage inducible beta GADD45B """growth arrest and DNA-damage-inducible beta"", ""growth arrest and DNA-damage-inducible, beta"", ""myeloid differentiation primary response""" DKFZP566B133, GADD45BETA, MYD118 Yes No Comparative Toxicogenomics Database:4616, Ensembl:ENSG00000099860, GenAtlas:GADD45B, GeneCard:GADD45B, HGNC:HGNC:4096, HumanCyc Gene:HS01921, ModBase:O75293, NCBI Gene:4616, OMIM:604948, RefSeq DNA:NT_011255, RefSeq Protein:NP_056490, RefSeq RNA:NM_015675, UCSC Genome Browser:NM_015675, UniProtKB:O75293 No chr19 2476123 2478257 2476125 2478259 +PA28512 10912 HGNC:4097 ENSG00000130222 growth arrest and DNA damage inducible gamma GADD45G """gadd-related protein, 17 kD"", ""growth arrest and DNA-damage-inducible gamma"", ""growth arrest and DNA-damage-inducible, gamma""" CR6, DDIT2, GADD45gamma, GRP17 Yes No Comparative Toxicogenomics Database:10912, Ensembl:ENSG00000130222, GenAtlas:GADD45G, GeneCard:GADD45G, HGNC:HGNC:4097, HumanCyc Gene:HS05355, ModBase:O95257, NCBI Gene:10912, OMIM:604949, RefSeq DNA:NT_008470, RefSeq Protein:NP_006696, RefSeq RNA:NM_006705, UCSC Genome Browser:NM_006705, UniProtKB:O95257, UniProtKB:Q5VZ87 No chr9 92219913 92221470 89605009 89606555 +PA134954784 90480 HGNC:29996 ENSG00000179271 GADD45G interacting protein 1 GADD45GIP1 """CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""growth arrest and DNA-damage-inducible, gamma interacting protein 1"", ""p53-responsive gene 6"", ""papillomavirus L2 interacting nuclear protein 1""" CKBBP2, CKbetaBP2, CRIF1, MGC4667, MGC4758, PLINP-1, PRG6, Plinp1, mL64 Yes No Ensembl:ENSG00000179271, GeneCard:GADD45GIP1, HGNC:HGNC:29996, HumanCyc Gene:HS17245, ModBase:Q8TAE8, NCBI Gene:90480, OMIM:605162, RefSeq DNA:NT_011295, RefSeq Protein:NP_443082, RefSeq RNA:NM_052850, UniProtKB:Q8TAE8 No chr19 13064970 13068068 12954156 12957254 +PA134944477 339896 HGNC:27949 ENSG00000144644 glutamate decarboxylase like 1 GADL1 glutamate decarboxylase-like 1 Yes Yes Ensembl:ENSG00000144644, GeneCard:GADL1, HGNC:HGNC:27949, NCBI Gene:339896, RefSeq DNA:NT_022517, RefSeq Protein:NP_997242, RefSeq RNA:NM_207359, UniProtKB:Q6ZQY3 No chr3 30767692 30936153 30726009 30894661 +PA28513 2543 HGNC:4098 ENSG00000205777 G antigen 1 GAGE1 cancer/testis antigen family 4, member 1 CT4.1 Yes No Ensembl:ENSG00000205777, GenAtlas:GAGE1, GeneCard:GAGE1, HGNC:HGNC:4098, NCBI Gene:2543, OMIM:300594, RefSeq DNA:NT_086939, RefSeq Protein:NP_001035753, RefSeq Protein:NP_001459, RefSeq RNA:NM_001040663, RefSeq RNA:NM_001468, UCSC Genome Browser:NM_001468 No chrX 49363616 49373139 49598992 49608536 +PA145148765 102724473, 643832 HGNC:30968 ENSG00000215274 G antigen 10 GAGE10 OTTHUMG00000024136 Yes No Ensembl:ENSG00000215274, GeneCard:GAGE10, HGNC:HGNC:30968, ModBase:A6NGK3, NCBI Gene:102724473, NCBI Gene:643832, OMIM:300737, RefSeq DNA:NT_079573, RefSeq Protein:NP_001091883, RefSeq RNA:NM_001098413, UniProtKB:A6NGK3 No chrX 49160125 49176311 +PA145148770 729428 HGNC:26779 ENSG00000216649, ENSG00000227488, ENSG00000236737, ENSG00000237671 G antigen 12B GAGE12B OTTHUMG00000024142 Yes No Ensembl:ENSG00000216649, Ensembl:ENSG00000227488, Ensembl:ENSG00000236737, Ensembl:ENSG00000237671, GeneCard:GAGE12B, HGNC:HGNC:26779, NCBI Gene:729428, RefSeq DNA:NT_086939, RefSeq Protein:NP_001120817, RefSeq RNA:NM_001127345 No chrX +PA145148771 729422 HGNC:28402 ENSG00000237671 G antigen 12C GAGE12C OTTHUMG00000024144 Yes No Ensembl:ENSG00000237671, GeneCard:GAGE12C, HGNC:HGNC:28402, NCBI Gene:729422, OMIM:300727, RefSeq DNA:NT_086939, RefSeq Protein:NP_001091878, RefSeq RNA:NM_001098408 No chrX 49296780 49304144 49532177 49539541 +PA145148773 100132399 HGNC:31904 ENSG00000227488 G antigen 12D GAGE12D OTTHUMG00000024145 Yes No Ensembl:ENSG00000227488, GeneCard:GAGE12D, HGNC:HGNC:31904, NCBI Gene:100132399, OMIM:300728, RefSeq DNA:NT_086939, RefSeq Protein:NP_001120671, RefSeq RNA:NM_001127199 No chrX 49306325 49313710 49541722 49549107 +PA145148775 729431 HGNC:31905 ENSG00000216649 G antigen 12E GAGE12E OTTHUMG00000024146 Yes No Ensembl:ENSG00000216649, GeneCard:GAGE12E, HGNC:HGNC:31905, ModBase:A1L429, NCBI Gene:729431, OMIM:300729, RefSeq DNA:NT_086939, RefSeq Protein:NP_001091888, RefSeq RNA:NM_001098418, UniProtKB:A1L429 No chrX 49315892 49323252 49551289 49558649 +PA145148777 100008586 HGNC:31906 ENSG00000236362 G antigen 12F GAGE12F OTTHUMG00000024147 Yes No Ensembl:ENSG00000236362, GeneCard:GAGE12F, HGNC:HGNC:31906, NCBI Gene:100008586, OMIM:300730, RefSeq DNA:NT_086939, RefSeq Protein:NP_001091875, RefSeq RNA:NM_001098405 No chrX 49325416 49332811 49560808 49568208 +PA145148778 645073 HGNC:31907 ENSG00000215269 G antigen 12G GAGE12G OTTHUMG00000024148 Yes No Ensembl:ENSG00000215269, GeneCard:GAGE12G, HGNC:HGNC:31907, NCBI Gene:645073, OMIM:300731, RefSeq DNA:NT_086939, RefSeq Protein:NP_001091879, RefSeq RNA:NM_001098409, UniProtKB:O76087 No chrX 49335003 49342360 49570400 49577757 +PA145148780 729442 HGNC:31908 ENSG00000224902 G antigen 12H GAGE12H OTTHUMG00000024149 Yes No Ensembl:ENSG00000224902, GeneCard:GAGE12H, HGNC:HGNC:31908, ModBase:A6NDE8, NCBI Gene:729442, OMIM:300732, RefSeq DNA:NT_086939, RefSeq Protein:NP_001091880, RefSeq RNA:NM_001098410, UniProtKB:A6NDE8 No chrX 49344552 49351907 49579949 49587304 +PA162389185 26748 HGNC:4105 G antigen 12I GAGE12I GAGE7B, OTTHUMG00000067390 Yes No GeneCard:GAGE12I, HGNC:HGNC:4105, NCBI Gene:26748, OMIM:300637, RefSeq DNA:NT_079573, RefSeq Protein:NP_001468, RefSeq RNA:NM_001477 No chrX 49216677 49223943 +PA162389200 729396 HGNC:17778 ENSG00000224659 G antigen 12J GAGE12J GAGE11, OTTHUMG00000024137 Yes No Ensembl:ENSG00000224659, GeneCard:GAGE12J, HGNC:HGNC:17778, ModBase:A6NER3, NCBI Gene:729396, OMIM:300733, RefSeq DNA:NT_079573, RefSeq Protein:NP_001091876, RefSeq RNA:NM_001098406, UniProtKB:A6NER3 No chrX 49178516 49185866 49322030 49329387 +PA162389215 645051 HGNC:29081 ENSG00000274274 G antigen 13 GAGE13 GAGE12A, OTTHUMG00000024138 Yes No Ensembl:ENSG00000274274, GeneCard:GAGE13, HGNC:HGNC:29081, ModBase:Q4V321, NCBI Gene:645051, OMIM:300734, RefSeq DNA:NT_079573, RefSeq Protein:NP_001091882, RefSeq RNA:NM_001098412 No chrX 49188094 49195366 49331603 49338952 +PA162389230 729447 HGNC:4099 ENSG00000189064 G antigen 2A GAGE2A cancer/testis antigen family 4, member 2 CT4.2, GAGE2 Yes No Ensembl:ENSG00000189064, GeneCard:GAGE2A, HGNC:HGNC:4099, NCBI Gene:729447, OMIM:300720, RefSeq DNA:NT_086939, RefSeq Protein:NP_001120684, RefSeq RNA:NM_001127212, UniProtKB:Q6NT46 No chrX 49354118 49361430 49589515 49596827 +PA162389245 645037 HGNC:31957 G antigen 2B GAGE2B Yes No GeneCard:GAGE2B, HGNC:HGNC:31957, ModBase:Q13066, NCBI Gene:645037, OMIM:300726, RefSeq DNA:NT_079573, RefSeq Protein:NP_001091881, RefSeq RNA:NM_001098411 No chrX 49235708 49242997 +PA162389260 2574 HGNC:31958 G antigen 2C GAGE2C Yes No GeneCard:GAGE2C, HGNC:HGNC:31958, HumanCyc Gene:HS00951, NCBI Gene:2574, OMIM:300595, RefSeq DNA:NT_079573, RefSeq Protein:NP_001463, RefSeq RNA:NM_001472, UniProtKB:Q13066 No chrX 49226171 49233491 +PA162389275 729408 HGNC:31959 G antigen 2D GAGE2D GAGE8 Yes No GeneCard:GAGE2D, HGNC:HGNC:31959, NCBI Gene:729408, OMIM:300735, RefSeq DNA:NT_079573, RefSeq Protein:NP_001091877, RefSeq RNA:NM_001098407, UniProtKB:Q9UEU5 No chrX 49207116 49214420 +PA162389276 26749 HGNC:31960 ENSG00000275113 G antigen 2E GAGE2E GAGE8 Yes No Ensembl:ENSG00000275113, GeneCard:GAGE2E, HGNC:HGNC:31960, NCBI Gene:26749, OMIM:300736, RefSeq DNA:NT_079573, RefSeq Protein:NP_001120672, RefSeq RNA:NM_001127200, UniProtKB:Q4V326 No chrX 49197607 49204923 +PA28516 2576 HGNC:4101 G antigen 4 GAGE4 cancer/testis antigen family 4, member 4 CT4.4 Yes No GenAtlas:GAGE4, GeneCard:GAGE4, HGNC:HGNC:4101, ModBase:Q13068, NCBI Gene:2576, OMIM:300597, RefSeq DNA:NT_079573, RefSeq Protein:NP_001465, RefSeq RNA:NM_001474, UCSC Genome Browser:NM_001474, UniProtKB:Q13068 No chrX +PA28517 2577 HGNC:4102 G antigen 5 GAGE5 cancer/testis antigen family 4, member 5 CT4.5 Yes No GenAtlas:GAGE5, GeneCard:GAGE5, HGNC:HGNC:4102, NCBI Gene:2577, OMIM:300598, RefSeq DNA:NT_079573, RefSeq Protein:NP_001466, RefSeq RNA:NM_001475, UCSC Genome Browser:NM_001475, UniProtKB:Q13069 No chrX +PA28518 2578 HGNC:4103 G antigen 6 GAGE6 cancer/testis antigen family 4, member 6 CT4.6 Yes No GenAtlas:GAGE6, GeneCard:GAGE6, HGNC:HGNC:4103, NCBI Gene:2578, OMIM:300599, RefSeq DNA:NT_086939, RefSeq Protein:NP_001467, RefSeq RNA:NM_001476, UCSC Genome Browser:NM_001476, UniProtKB:Q13070 No chrX +PA28519 2579 HGNC:4104 G antigen 7 GAGE7 cancer/testis antigen family 4, member 7 CT4.7, GAGE-7 Yes No GenAtlas:GAGE7, GeneCard:GAGE7, HGNC:HGNC:4104, ModBase:O76087, NCBI Gene:2579, OMIM:300601, RefSeq DNA:NT_079573, RefSeq Protein:NP_066946, RefSeq RNA:NM_021123, UCSC Genome Browser:NM_021123 No chrX +PA28521 100101629 HGNC:4106 G antigen 8 GAGE8 cancer/testis antigen family 4, member 8 CT4.8 Yes No GenAtlas:GAGE8, GeneCard:GAGE8, HGNC:HGNC:4106, ModBase:Q9UEU5, NCBI Gene:100101629, OMIM:300638, RefSeq DNA:NT_079573, RefSeq Protein:NP_036328, RefSeq RNA:NM_012196, UCSC Genome Browser:NM_012196 No chrX +PA28528 2580 HGNC:4113 ENSG00000178950 cyclin G associated kinase GAK auxilin-2 DNAJC26 Yes No Comparative Toxicogenomics Database:2580, Ensembl:ENSG00000178950, GenAtlas:GAK, GeneCard:GAK, HGNC:HGNC:4113, HumanCyc Gene:HS11332, ModBase:O14976, NCBI Gene:2580, OMIM:602052, RefSeq DNA:NT_037622, RefSeq Protein:NP_005246, RefSeq RNA:NM_005255, UCSC Genome Browser:NM_005255, UniProtKB:O14976 No chr4 843065 926174 849275 932390 +PA28529 51083 HGNC:4114 ENSG00000069482 galanin and GMAP prepropeptide GAL galanin-message-associated peptide, galanin/GMAP prepropeptide GAL-GMAP, GALN, GLNN, GMAP Yes Yes Comparative Toxicogenomics Database:51083, Ensembl:ENSG00000069482, GenAtlas:GAL, GeneCard:GAL, HGNC:HGNC:4114, HumanCyc Gene:HS00964, NCBI Gene:51083, OMIM:137035, RefSeq DNA:NT_167190, RefSeq Protein:NP_057057, RefSeq RNA:NM_015973, UCSC Genome Browser:NM_015973, UniProtKB:P22466 No chr11 68451983 68458643 68684475 68691175 +PA134889661 9514 HGNC:24240 ENSG00000128242 galactose-3-O-sulfotransferase 1 GAL3ST1 cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase, galactosylceramide sulfotransferase CST Yes No Comparative Toxicogenomics Database:9514, Ensembl:ENSG00000128242, GeneCard:GAL3ST1, HGNC:HGNC:24240, HumanCyc Gene:HS05164, ModBase:Q99999, NCBI Gene:9514, OMIM:602300, RefSeq DNA:NT_011520, RefSeq Protein:NP_004852, RefSeq RNA:NM_004861, UniProtKB:Q99999 No chr22 30950622 30970572 30554635 30574588 +PA134913637 64090 HGNC:24869 ENSG00000154252 galactose-3-O-sulfotransferase 2 GAL3ST2 GP3ST Yes No Ensembl:ENSG00000154252, GeneCard:GAL3ST2, HGNC:HGNC:24869, ModBase:Q9H3Q3, NCBI Gene:64090, OMIM:608237, RefSeq DNA:NT_005416, RefSeq Protein:NP_071417, RefSeq RNA:NM_022134, UniProtKB:Q9H3Q3 No chr2 242716240 242743702 241776825 241804287 +PA134864180 89792 HGNC:24144 ENSG00000175229 galactose-3-O-sulfotransferase 3 GAL3ST3 GAL3ST2 Yes No Ensembl:ENSG00000175229, GeneCard:GAL3ST3, HGNC:HGNC:24144, HumanCyc Gene:HS10901, ModBase:Q96A11, NCBI Gene:89792, OMIM:608234, RefSeq DNA:NT_167190, RefSeq Protein:NP_149025, RefSeq RNA:NM_033036, UniProtKB:Q96A11 No chr11 65808236 65816651 66040765 66049180 +PA134921067 79690 HGNC:24145 ENSG00000197093 galactose-3-O-sulfotransferase 4 GAL3ST4 FLJ12116 Yes No Ensembl:ENSG00000197093, GeneCard:GAL3ST4, HGNC:HGNC:24145, ModBase:Q96RP7, NCBI Gene:79690, OMIM:608235, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_078913, RefSeq RNA:NM_024637, UniProtKB:Q96RP7 No chr7 99756865 99766373 100159242 100168750 +PA28530 2581 HGNC:4115 ENSG00000054983 galactosylceramidase GALC Krabbe disease Yes No Comparative Toxicogenomics Database:2581, Ensembl:ENSG00000054983, GenAtlas:GALC, GeneCard:GALC, HGNC:HGNC:4115, HumanCyc Gene:HS00678, ModBase:P54803, NCBI Gene:2581, OMIM:245200, OMIM:606890, RefSeq DNA:NG_011853, RefSeq DNA:NT_026437, RefSeq Protein:NP_000144, RefSeq Protein:NP_001032614, RefSeq Protein:NP_001188330, RefSeq Protein:NP_001188331, RefSeq RNA:NM_000153, RefSeq RNA:NM_001037525, RefSeq RNA:NM_001201401, RefSeq RNA:NM_001201402, UCSC Genome Browser:NM_000153, UniProtKB:P54803 No chr14 88304164 88460009 87933014 87993665 +PA28531 2582 HGNC:4116 ENSG00000117308 UDP-galactose-4-epimerase GALE """UDP-glucose 4-epimerase"", ""short chain dehydrogenase/reductase family 1E, member 1""" SDR1E1 Yes No Comparative Toxicogenomics Database:2582, Ensembl:ENSG00000117308, GenAtlas:GALE, GeneCard:GALE, HGNC:HGNC:4116, HumanCyc Gene:HS04117, ModBase:Q14376, NCBI Gene:2582, OMIM:230350, OMIM:606953, RefSeq DNA:NG_007068, RefSeq DNA:NT_004610, RefSeq Protein:NP_000394, RefSeq Protein:NP_001008217, RefSeq Protein:NP_001121093, RefSeq RNA:NM_000403, RefSeq RNA:NM_001008216, RefSeq RNA:NM_001127621, UCSC Genome Browser:NM_000403, UniProtKB:Q14376, UniProtKB:Q38G75 No chr1 24122089 24127294 23795599 23800804 +PA28533 2584 HGNC:4118 ENSG00000108479 galactokinase 1 GALK1 GALK Yes No Comparative Toxicogenomics Database:2584, Ensembl:ENSG00000108479, GenAtlas:GALK1, GeneCard:GALK1, HGNC:HGNC:4118, HumanCyc Gene:HS03112, ModBase:P51570, NCBI Gene:2584, OMIM:230200, OMIM:604313, RefSeq DNA:NG_008079, RefSeq DNA:NT_010783, RefSeq Protein:NP_000145, RefSeq RNA:NM_000154, UCSC Genome Browser:NM_000154, UniProtKB:P51570 No chr17 73754018 73761280 75757937 75765199 +PA28534 2585 HGNC:4119 ENSG00000156958 galactokinase 2 GALK2 GK2 Yes No Comparative Toxicogenomics Database:2585, Ensembl:ENSG00000156958, GenAtlas:GALK2, GeneCard:GALK2, HGNC:HGNC:4119, HumanCyc Gene:HS08161, ModBase:Q01415, NCBI Gene:2585, OMIM:137028, RefSeq DNA:NT_010194, RefSeq Protein:NP_001001556, RefSeq Protein:NP_002035, RefSeq RNA:NM_001001556, RefSeq RNA:NM_002044, UCSC Genome Browser:NM_002044, UniProtKB:Q01415, UniProtKB:Q7Z4Q4 No chr15 49447974 49659955 49155757 49367883 +PA134980075 130589 HGNC:24063 ENSG00000143891 galactose mutarotase GALM aldose 1 epimerase, aldose 1-epimerase, aldose mutarotase, galactomutarotase, galactose mutarotase (aldose 1-epimerase) GLAT Yes No Comparative Toxicogenomics Database:130589, Ensembl:ENSG00000143891, GeneCard:GALM, HGNC:HGNC:24063, HumanCyc Gene:HS07125, ModBase:Q96C23, NCBI Gene:130589, OMIM:608883, RefSeq DNA:NT_022184, RefSeq Protein:NP_620156, RefSeq RNA:NM_138801, UniProtKB:Q53RY1, UniProtKB:Q96C23 No chr2 38893052 38961909 38665910 38734767 +PA28535 2588 HGNC:4122 ENSG00000141012 galactosamine (N-acetyl)-6-sulfatase GALNS Morquio syndrome, N-acetylgalactosamine-6-sulfatase, chondroitinase, chondroitinsulfatase, galactosamine (N-acetyl)-6-sulfate sulfatase, galactose-6-sulfate sulfatase, mucopolysaccharidosis type IVA GALNAC6S, GAS, GalN6S Yes No Comparative Toxicogenomics Database:2588, Ensembl:ENSG00000141012, GenAtlas:GALNS, GeneCard:GALNS, HGNC:HGNC:4122, HumanCyc Gene:HS06790, ModBase:P34059, NCBI Gene:2588, OMIM:253000, OMIM:612222, RefSeq DNA:NG_008667, RefSeq DNA:NT_010542, RefSeq Protein:NP_000503, RefSeq RNA:NM_000512, UCSC Genome Browser:NM_000512, UniProtKB:P34059, UniProtKB:Q96I49 No chr16 88880142 88923374 88813734 88856970 +PA28536 2589 HGNC:4123 ENSG00000141429 polypeptide N-acetylgalactosaminyltransferase 1 GALNT1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1), polypeptide GalNAc transferase 1, protein-UDP acetylgalactosaminyltransferase 1 GalNAc-T1 Yes No Comparative Toxicogenomics Database:2589, Ensembl:ENSG00000141429, GenAtlas:GALNT1, GeneCard:GALNT1, HGNC:HGNC:4123, HumanCyc Gene:HS06826, ModBase:Q10472, NCBI Gene:2589, OMIM:602273, RefSeq DNA:NT_010966, RefSeq Protein:NP_065207, RefSeq RNA:NM_020474, UCSC Genome Browser:NM_020474, UniProtKB:Q05BM8 No chr18 33207400 33291798 35581066 35711834 +PA134870832 55568 HGNC:19873 ENSG00000164574 polypeptide N-acetylgalactosaminyltransferase 10 GALNT10 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10), polypeptide GalNAc transferase 10 DKFZp586H0623, GalNAc-T10 Yes No Comparative Toxicogenomics Database:55568, Ensembl:ENSG00000164574, GeneCard:GALNT10, HGNC:HGNC:19873, HumanCyc Gene:HS15213, ModBase:Q9Y4M4, NCBI Gene:55568, OMIM:608043, RefSeq DNA:NT_029289, RefSeq Protein:NP_060010, RefSeq Protein:NP_938080, RefSeq RNA:NM_017540, RefSeq RNA:NM_198321, UniProtKB:Q86SR1 No chr5 153570295 153800544 154190735 154420984 +PA134911149 63917 HGNC:19875 ENSG00000178234 polypeptide N-acetylgalactosaminyltransferase 11 GALNT11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11), polypeptide GalNAc transferase 11 FLJ21634, GalNAc-T11 Yes No Ensembl:ENSG00000178234, GeneCard:GALNT11, HGNC:HGNC:19875, HumanCyc Gene:HS12640, HumanCyc Gene:HS17020, ModBase:Q8NCW6, NCBI Gene:63917, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_071370, RefSeq RNA:NM_022087, UniProtKB:B3KWF4, UniProtKB:Q8NCW6 No chr7 151722774 151819427 152025674 152122347 +PA134929192 79695 HGNC:19877 ENSG00000119514 polypeptide N-acetylgalactosaminyltransferase 12 GALNT12 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12), polypeptide GalNAc transferase 12 FLJ21212, GalNAc-T12 Yes No Ensembl:ENSG00000119514, GeneCard:GALNT12, HGNC:HGNC:19877, HumanCyc Gene:HS12940, ModBase:Q8IXK2, NCBI Gene:79695, OMIM:610290, RefSeq DNA:NT_008470, RefSeq Protein:NP_078918, RefSeq RNA:NM_024642, UniProtKB:Q8IXK2 No chr9 101569981 101612363 98807699 98850081 +PA134887166 114805 HGNC:23242 ENSG00000144278 polypeptide N-acetylgalactosaminyltransferase 13 GALNT13 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13), polypeptide GalNAc transferase 13 GalNAc-T13, KIAA1918 Yes No Ensembl:ENSG00000144278, GeneCard:GALNT13, HGNC:HGNC:23242, HumanCyc Gene:HS11916, ModBase:Q8IUC8, NCBI Gene:114805, OMIM:608369, RefSeq DNA:NT_005403, RefSeq Protein:NP_443149, RefSeq RNA:NM_052917, UniProtKB:Q68VI8, UniProtKB:Q8IUC8 No chr2 154728426 155310489 153871898 154454177 +PA134920089 79623 HGNC:22946 ENSG00000158089 polypeptide N-acetylgalactosaminyltransferase 14 GALNT14 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14), polypeptide GalNAc transferase 14 FLJ12691, GalNac-T10, GalNac-T14 Yes Yes Comparative Toxicogenomics Database:79623, Ensembl:ENSG00000158089, GeneCard:GALNT14, HGNC:HGNC:22946, HumanCyc Gene:HS14696, ModBase:Q96FL9, NCBI Gene:79623, OMIM:608225, RefSeq DNA:NT_022184, RefSeq Protein:NP_078848, RefSeq RNA:NM_024572, UniProtKB:Q96FL9 No chr2 31133331 31361592 30888518 31138726 +PA134936170 117248 HGNC:21531 ENSG00000131386 polypeptide N-acetylgalactosaminyltransferase 15 GALNT15 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15, polypeptide GalNAc transferase 15 GALNT7, GALNTL2, pp-GalNAc-T15 Yes No Comparative Toxicogenomics Database:117248, Ensembl:ENSG00000131386, GeneCard:GALNTL2, HGNC:HGNC:21531, HumanCyc Gene:HS13381, ModBase:Q8N3T1, NCBI Gene:117248, RefSeq DNA:NT_022517, RefSeq Protein:NP_473451, RefSeq RNA:NM_054110, UniProtKB:Q8N3T1 No chr3 16216086 16286033 16174322 16245190 +PA134991608 57452 HGNC:23233 ENSG00000100626 polypeptide N-acetylgalactosaminyltransferase 16 GALNT16 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16, polypeptide GalNAc transferase 16 GALNTL1, GalNAc-T16, KIAA1130 Yes No Ensembl:ENSG00000100626, GeneCard:GALNTL1, HGNC:HGNC:23233, ModBase:Q8N428, NCBI Gene:57452, RefSeq DNA:NT_026437, RefSeq Protein:NP_001161840, RefSeq Protein:NP_065743, RefSeq RNA:NM_001168368, RefSeq RNA:NM_020692, UniProtKB:Q68VJ8, UniProtKB:Q8N428 No chr14 69726681 69821190 69259546 69379904 +PA38124 64409 HGNC:16347 ENSG00000185274 polypeptide N-acetylgalactosaminyltransferase 17 GALNT17 Williams-Beuren syndrome chromosome region 17, polypeptide GalNAc transferase 3, polypeptide N-acetylgalactosaminyltransferase-like 3 GALNTL3, GalNAc-T17, GalNAc-T19, GalNAc-T5L, WBSCR17, ppGalNAc-T17 Yes Yes Ensembl:ENSG00000185274, GenAtlas:WBSCR17, GeneCard:WBSCR17, HGNC:HGNC:16347, HumanCyc Gene:HS11978, ModBase:Q6IS24, NCBI Gene:64409, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_071924, RefSeq RNA:NM_022479, UCSC Genome Browser:NM_022479, UniProtKB:Q2L4S5, UniProtKB:Q6IS24 No chr7 70597523 71178586 71132414 71713601 +PA134950929 374378 HGNC:30488 ENSG00000110328 polypeptide N-acetylgalactosaminyltransferase 18 GALNT18 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18, polypeptide GalNAc transferase 18 GALNT15, GALNTL4, GalNAc-T18, MGC71806 Yes Yes Comparative Toxicogenomics Database:374378, Ensembl:ENSG00000110328, GeneCard:GALNTL4, HGNC:HGNC:30488, ModBase:Q6P9A2, NCBI Gene:374378, RefSeq DNA:NT_009237, RefSeq Protein:NP_940918, RefSeq RNA:NM_198516, UniProtKB:Q58A54, UniProtKB:Q6P9A2 No chr11 11292421 11643561 11270874 11622045 +PA28537 2590 HGNC:4124 ENSG00000143641 polypeptide N-acetylgalactosaminyltransferase 2 GALNT2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2), polypeptide GalNAc transferase 2 GalNAc-T2 Yes Yes Comparative Toxicogenomics Database:2590, Ensembl:ENSG00000143641, GenAtlas:GALNT2, GeneCard:GALNT2, HGNC:HGNC:4124, HumanCyc Gene:HS07092, ModBase:Q10471, NCBI Gene:2590, OMIM:602274, RefSeq DNA:NG_011854, RefSeq DNA:NT_167186, RefSeq Protein:NP_004472, RefSeq RNA:NM_004481, UCSC Genome Browser:NM_004481, UniProtKB:Q10471 No chr1 230202956 230417875 230057789 230282130 +PA28538 2591 HGNC:4125 ENSG00000115339 polypeptide N-acetylgalactosaminyltransferase 3 GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3), polypeptide GalNAc transferase 3 GalNAc-T3, HFTC, HHS Yes No Comparative Toxicogenomics Database:2591, Ensembl:ENSG00000115339, GenAtlas:GALNT3, GeneCard:GALNT3, HGNC:HGNC:4125, HumanCyc Gene:HS03873, ModBase:Q14435, NCBI Gene:2591, OMIM:211900, OMIM:601756, OMIM:610233, RefSeq DNA:NG_012069, RefSeq DNA:NT_005403, RefSeq Protein:NP_004473, RefSeq RNA:NM_004482, UCSC Genome Browser:NM_004482, UniProtKB:Q14435 No chr2 166604313 166650803 165747803 165796352 +PA28539 8693 HGNC:4126 ENSG00000257594 polypeptide N-acetylgalactosaminyltransferase 4 GALNT4 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4), polypeptide GalNAc transferase 4 GalNAc-T4 Yes No Ensembl:ENSG00000257594, GenAtlas:GALNT4, GeneCard:GALNT4, HGNC:HGNC:4126, HumanCyc Gene:HS00057, ModBase:Q8N4A0, NCBI Gene:8693, OMIM:603565, RefSeq DNA:NT_029419, RefSeq Protein:NP_003765, RefSeq RNA:NM_003774, UCSC Genome Browser:NM_003774, UniProtKB:Q8N4A0 No chr12 89913189 89918583 89519412 89524806 +PA28540 11227 HGNC:4127 ENSG00000136542 polypeptide N-acetylgalactosaminyltransferase 5 GALNT5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5), polypeptide GalNAc transferase 5 GalNAc-T5 Yes No Comparative Toxicogenomics Database:11227, Ensembl:ENSG00000136542, GenAtlas:GALNT5, GeneCard:GALNT5, HGNC:HGNC:4127, HumanCyc Gene:HS06180, ModBase:Q7Z7M9, NCBI Gene:11227, RefSeq DNA:NT_005403, RefSeq Protein:NP_055383, RefSeq RNA:NM_014568, UCSC Genome Browser:NM_014568, UniProtKB:A5PKZ1, UniProtKB:Q7Z7M9 No chr2 158114340 158167913 157257548 157318491 +PA28541 11226 HGNC:4128 ENSG00000139629 polypeptide N-acetylgalactosaminyltransferase 6 GALNT6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6), polypeptide GalNAc transferase 6 GalNAc-T6 Yes No Comparative Toxicogenomics Database:11226, Ensembl:ENSG00000139629, GenAtlas:GALNT6, GeneCard:GALNT6, HGNC:HGNC:4128, HumanCyc Gene:HS06641, ModBase:Q8NCL4, NCBI Gene:11226, OMIM:605148, RefSeq DNA:NT_029419, RefSeq Protein:NP_009141, RefSeq RNA:NM_007210, UCSC Genome Browser:NM_007210, UniProtKB:Q8NCL4 No chr12 51745654 51785739 51351870 51391955 +PA28542 51809 HGNC:4129 ENSG00000109586 polypeptide N-acetylgalactosaminyltransferase 7 GALNT7 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7), polypeptide GalNAc transferase 7 GALNAC-T7 Yes No Comparative Toxicogenomics Database:51809, Ensembl:ENSG00000109586, GenAtlas:GALNT7, GeneCard:GALNT7, HGNC:HGNC:4129, HumanCyc Gene:HS03240, ModBase:Q86SF2, NCBI Gene:51809, OMIM:605005, RefSeq DNA:NT_016354, RefSeq Protein:NP_059119, RefSeq RNA:NM_017423, UCSC Genome Browser:NM_017423, UniProtKB:Q86SF2 No chr4 174089904 174245118 173168753 173323967 +PA28543 26290 HGNC:4130 ENSG00000130035 polypeptide N-acetylgalactosaminyltransferase 8 GALNT8 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8), polypeptide GalNAc transferase 8 GALNAC-T8 Yes No Ensembl:ENSG00000130035, GenAtlas:GALNT8, GeneCard:GALNT8, HGNC:HGNC:4130, HumanCyc Gene:HS05332, ModBase:Q9NY28, NCBI Gene:26290, OMIM:606250, RefSeq DNA:NT_009759, RefSeq Protein:NP_059113, RefSeq RNA:NM_017417, UCSC Genome Browser:NM_017417, UniProtKB:Q9NY28 No chr12 4829752 4881892 4720586 4772726 +PA28544 50614 HGNC:4131 ENSG00000182870 polypeptide N-acetylgalactosaminyltransferase 9 GALNT9 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9), polypeptide GalNAc transferase 9 GALNAC-T9 Yes No Ensembl:ENSG00000182870, GenAtlas:GALNT9, GeneCard:GALNT9, HGNC:HGNC:4131, HumanCyc Gene:HS11963, NCBI Gene:50614, OMIM:606251, RefSeq DNA:NT_009755, RefSeq DNA:NT_024477, RefSeq Protein:NP_001116108, RefSeq Protein:NP_068580, RefSeq RNA:NM_001122636, RefSeq RNA:NM_021808, UCSC Genome Browser:NM_021808, UniProtKB:Q9HCQ5 No chr12 12716 103358 132195829 132329364 +PA134934705 168391 HGNC:21725 ENSG00000106648 polypeptide N-acetylgalactosaminyltransferase like 5 GALNTL5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5, polypeptide GalNAc transferase-like 5, polypeptide N-acetylgalactosaminyltransferase-like 5 GALNT15, GalNAc-T5L Yes No Ensembl:ENSG00000106648, GeneCard:GALNTL5, HGNC:HGNC:21725, HumanCyc Gene:HS12641, ModBase:Q7Z4T8, NCBI Gene:168391, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_660335, RefSeq RNA:NM_145292, RefSeq RNA:NR_033169, UniProtKB:Q7Z4T8 No chr7 151653464 151717019 151956379 152019934 +PA164720162 442117 HGNC:33844 ENSG00000174473 polypeptide N-acetylgalactosaminyltransferase like 6 GALNTL6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6, polypeptide GalNAc transferase-like 6, polypeptide N-acetylgalactosaminyltransferase-like 6 GALNT17, GalNAc-T6L Yes No Ensembl:ENSG00000174473, GeneCard:GALNTL6, HGNC:HGNC:33844, ModBase:Q49A17, NCBI Gene:442117, RefSeq DNA:NT_016354, RefSeq Protein:NP_001030017, RefSeq RNA:NM_001034845, UniProtKB:Q49A17 No chr4 172734575 173961559 171812690 173040408 +PA162389277 85569 HGNC:24840 ENSG00000197487 galanin like peptide GALP galanin-like peptide GAL Yes No Ensembl:ENSG00000197487, GeneCard:GALP, HGNC:HGNC:24840, NCBI Gene:85569, OMIM:611178, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139018, RefSeq Protein:NP_149097, RefSeq RNA:NM_001145546, RefSeq RNA:NM_033106, UniProtKB:Q9UBC7 No chr19 56687389 56697144 56176020 56185775 +PA28545 2587 HGNC:4132 ENSG00000166573 galanin receptor 1 GALR1 GALNR, GALNR1 Yes Yes Comparative Toxicogenomics Database:2587, Ensembl:ENSG00000166573, GenAtlas:GALR1, GeneCard:GALR1, HGNC:HGNC:4132, HumanCyc Gene:HS09423, IUPHAR Receptor:243, ModBase:P47211, NCBI Gene:2587, OMIM:600377, RefSeq DNA:NG_009223, RefSeq DNA:NT_025028, RefSeq Protein:NP_001471, RefSeq RNA:NM_001480, UCSC Genome Browser:NM_001480, UniProtKB:P47211 No chr18 74962008 74982098 77250052 77270142 +PA28546 8811 HGNC:4133 ENSG00000182687 galanin receptor 2 GALR2 GALNR2 Yes No Comparative Toxicogenomics Database:8811, Ensembl:ENSG00000182687, GenAtlas:GALR2, GeneCard:GALR2, HGNC:HGNC:4133, IUPHAR Receptor:244, ModBase:O43603, NCBI Gene:8811, OMIM:603691, RefSeq DNA:NT_010783, RefSeq Protein:NP_003848, RefSeq RNA:NM_003857, UCSC Genome Browser:NM_003857, UniProtKB:O43603 No chr17 74070892 74073573 76070822 76077541 +PA28547 8484 HGNC:4134 ENSG00000128310 galanin receptor 3 GALR3 Yes No Comparative Toxicogenomics Database:8484, Ensembl:ENSG00000128310, GenAtlas:GALR3, GeneCard:GALR3, HGNC:HGNC:4134, HumanCyc Gene:HS05178, IUPHAR Receptor:245, ModBase:O60755, NCBI Gene:8484, OMIM:603692, RefSeq DNA:NT_011520, RefSeq Protein:NP_003605, RefSeq RNA:NM_003614, UCSC Genome Browser:NM_003614, UniProtKB:O60755 No chr22 38219389 38221502 37823382 37825495 +PA28548 2592 HGNC:4135 ENSG00000213930 galactose-1-phosphate uridylyltransferase GALT Yes No Comparative Toxicogenomics Database:2592, Ensembl:ENSG00000213930, GenAtlas:GALT, GeneCard:GALT, HGNC:HGNC:4135, HumanCyc Gene:HS06274, ModBase:Q14384, NCBI Gene:2592, OMIM:230400, OMIM:606999, RefSeq DNA:NG_009029, RefSeq DNA:NT_008413, RefSeq Protein:NP_000146, RefSeq RNA:NM_000155, UCSC Genome Browser:NM_000155, UniProtKB:P07902 No chr9 34646586 34650595 34646589 34650598 +PA28549 2593 HGNC:4136 ENSG00000130005 guanidinoacetate N-methyltransferase GAMT PIG2, TP53I2 Yes No Comparative Toxicogenomics Database:2593, Ensembl:ENSG00000130005, GenAtlas:GAMT, GeneCard:GAMT, HGNC:HGNC:4136, HumanCyc Gene:HS05327, ModBase:Q14353, NCBI Gene:2593, OMIM:601240, OMIM:612736, RefSeq DNA:NG_009785, RefSeq DNA:NT_011255, RefSeq Protein:NP_000147, RefSeq Protein:NP_620279, RefSeq RNA:NM_000156, RefSeq RNA:NM_138924, UCSC Genome Browser:NM_000156, UniProtKB:A8K0A0, UniProtKB:Q14353 No chr19 1397025 1401569 1397026 1401570 +PA28550 8139 HGNC:4137 ENSG00000261609 gigaxonin GAN kelch-like family member 16 GAN1, GIG, KLHL16 Yes No Comparative Toxicogenomics Database:8139, Ensembl:ENSG00000261609, GenAtlas:GAN, GeneCard:GAN, HGNC:HGNC:4137, HumanCyc Gene:HS05124, ModBase:Q9H2C0, NCBI Gene:8139, OMIM:256850, OMIM:605379, RefSeq DNA:NG_009007, RefSeq DNA:NT_010498, RefSeq Protein:NP_071324, RefSeq RNA:NM_022041, UCSC Genome Browser:NM_022041, UniProtKB:B3KTC3, UniProtKB:Q9H2C0 No chr16 81348571 81413803 81314941 81380198 +PA28551 23193 HGNC:4138 ENSG00000089597 glucosidase II alpha subunit GANAB """glucosidase, alpha; neutral AB"", ""neutral alpha-glucosidase AB""" G2AN, GIIA, GIIalpha, GluII, KIAA0088 Yes No Comparative Toxicogenomics Database:23193, Ensembl:ENSG00000089597, GenAtlas:GANAB, GeneCard:GANAB, HGNC:HGNC:4138, HumanCyc Gene:HS01658, ModBase:Q14697, NCBI Gene:23193, OMIM:104160, RefSeq DNA:NT_167190, RefSeq Protein:NP_938148, RefSeq Protein:NP_938149, RefSeq RNA:NM_198334, RefSeq RNA:NM_198335, UniProtKB:Q14697 No chr11 62392298 62414198 62624826 62646726 +PA28552 2595 HGNC:4139 ENSG00000214013 glucosidase alpha, neutral C GANC glucosidase, alpha; neutral C Yes No Ensembl:ENSG00000214013, GenAtlas:GANC, GeneCard:GANC, HGNC:HGNC:4139, ModBase:Q8TET4, NCBI Gene:2595, OMIM:104180, RefSeq DNA:NT_010194, RefSeq Protein:NP_937784, RefSeq RNA:NM_198141, UniProtKB:Q8TET4 No chr15 42566366 42646599 42273658 42353666 +PA28553 2596 HGNC:4140 ENSG00000172020 growth associated protein 43 GAP43 axonal membrane protein GAP-43, calmodulin-binding protein P-57, nerve growth-related peptide GAP43, neural phosphoprotein B-50, neuromodulin, neuron growth-associated protein 43, protein F1 B-50, GAP-43, PP46 Yes No Comparative Toxicogenomics Database:2596, Ensembl:ENSG00000172020, GenAtlas:GAP43, GeneCard:GAP43, HGNC:HGNC:4140, HumanCyc Gene:HS10436, ModBase:P17677, NCBI Gene:2596, OMIM:162060, RefSeq DNA:NT_005612, RefSeq Protein:NP_001123536, RefSeq Protein:NP_002036, RefSeq RNA:NM_001130064, RefSeq RNA:NM_002045, UCSC Genome Browser:NM_002045, UniProtKB:A8K0Y4, UniProtKB:P17677, UniProtKB:Q5U058 No chr3 115342151 115440334 115623304 115721487 +PA28554 2597 HGNC:4141 ENSG00000111640 glyceraldehyde-3-phosphate dehydrogenase GAPDH GAPD Yes No Comparative Toxicogenomics Database:2597, Ensembl:ENSG00000111640, GenAtlas:GAPDH, GeneCard:GAPDH, HGNC:HGNC:4141, HumanCyc Gene:HS03433, ModBase:P04406, NCBI Gene:2597, OMIM:138400, RefSeq DNA:NG_007073, RefSeq DNA:NT_009759, RefSeq Protein:NP_002037, RefSeq RNA:NM_002046, UCSC Genome Browser:NM_002046, UniProtKB:P04406 No chr12 +PA28571 2616 HGNC:4159 ENSG00000228232 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 GAPDHP1 Yes No Ensembl:ENSG00000228232, GenAtlas:GAPDHP1, GeneCard:GAPDHP1, HGNC:HGNC:4159, NCBI Gene:2616, RefSeq DNA:NG_001123, RefSeq DNA:NT_079573 No chrX 39646086 39647013 39786931 39787959 +PA28572 54050 HGNC:4160 ENSG00000236056 glyceraldehyde-3-phosphate dehydrogenase pseudogene 14 GAPDHP14 Yes No Ensembl:ENSG00000236056, GenAtlas:GAPDHP14, GeneCard:GAPDHP14, HGNC:HGNC:4160, NCBI Gene:54050, RefSeq DNA:NG_009356, RefSeq DNA:NT_011512 No chr21 30594575 30595787 29222254 29223466 +PA134960137 642317 HGNC:13950 ENSG00000214563 glyceraldehyde-3-phosphate dehydrogenase pseudogene 15 GAPDHP15 GAPDH-Lp, b55C20.4 Yes No Ensembl:ENSG00000214563, HGNC:HGNC:13950, NCBI Gene:642317, RefSeq DNA:NG_006993, RefSeq DNA:NT_033172 No chr6 58293686 58294938 57967596 57968738 +PA134952318 387491 HGNC:23768 ENSG00000225502 glyceraldehyde-3-phosphate dehydrogenase pseudogene 16 GAPDHP16 Yes No Ensembl:ENSG00000225502, GeneCard:GAPDHP16, HGNC:HGNC:23768, NCBI Gene:387491, RefSeq DNA:NG_009468, RefSeq DNA:NT_011512 No chr21 16146624 16147801 14774303 14775480 +PA28573 170516 HGNC:16577 ENSG00000236811 glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 GAPDHP2 dJ585I14.1 Yes No Ensembl:ENSG00000236811, GenAtlas:GAPDHP2, GeneCard:GAPDHP2, HGNC:HGNC:16577, NCBI Gene:170516, RefSeq DNA:NG_001038, RefSeq DNA:NT_011387 No chr20 13373261 13374534 13392614 13393877 +PA28555 391077 HGNC:4142 ENSG00000229570 glyceraldehyde 3 phosphate dehydrogenase pseudogene 58 GAPDHP58 Yes No Ensembl:ENSG00000229570, GenAtlas:GAPDHL1, GeneCard:GAPDHP58, HGNC:HGNC:4142, NCBI Gene:391077, RefSeq DNA:NG_009338, RefSeq DNA:NT_032977 No chr1 120038412 120039539 119495789 119496916 +PA28565 645024 HGNC:4152 ENSG00000231739 glyceraldehyde-3-phosphate dehydrogenase pseudogene 59 GAPDHP59 Yes No Ensembl:ENSG00000231739, GenAtlas:GAPDHL3, GeneCard:GAPDHP59, HGNC:HGNC:4152, NCBI Gene:645024, RefSeq DNA:NG_006132, RefSeq DNA:NT_005403 No chr2 188280258 188281087 187415531 187416360 +PA28566 2601 HGNC:4153 ENSG00000248180 glyceraldehyde-3-phosphate dehydrogenase pseudogene 60 GAPDHP60 Yes No Ensembl:ENSG00000248180, GenAtlas:GAPDHL4, GeneCard:GAPDHP60, HGNC:HGNC:4153, NCBI Gene:2601, RefSeq DNA:NG_003011, RefSeq DNA:NT_016354 No chr4 88128168 88129446 87207016 87208290 +PA28567 729403 HGNC:4155 ENSG00000248415 glyceraldehyde 3 phosphate dehydrogenase pseudogene 61 GAPDHP61 Yes No Ensembl:ENSG00000248415, GenAtlas:GAPDHL6, GeneCard:GAPDHP61, HGNC:HGNC:4155, NCBI Gene:729403, RefSeq DNA:NG_009327, RefSeq DNA:NT_010194 No chr15 64820661 64821939 64528468 64529740 +PA28568 100128961 HGNC:4156 ENSG00000251013 glyceraldehyde 3 phosphate dehydrogenase pseudogene 62 GAPDHP62 Yes No Ensembl:ENSG00000251013, GenAtlas:GAPDHL7, GeneCard:GAPDHP62, HGNC:HGNC:4156, NCBI Gene:100128961, RefSeq DNA:NG_009346, RefSeq DNA:NT_008046 No chr8 101562768 101563961 100550540 100551790 +PA28569 442231 HGNC:4157 ENSG00000218582 glyceraldehyde 3 phosphate dehydrogenase pseudogene 63 GAPDHP63 Yes No Ensembl:ENSG00000218582, GenAtlas:GAPDHL8, GeneCard:GAPDHP63, HGNC:HGNC:4157, NCBI Gene:442231, RefSeq DNA:NG_006998, RefSeq DNA:NT_007299 No chr6 80662519 80663799 79952806 79954082 +PA28570 391069 HGNC:4158 ENSG00000231072 glyceraldehyde-3-phosphate dehydrogenase pseudogene 64 GAPDHP64 Yes Yes Ensembl:ENSG00000231072, GenAtlas:GAPDHL9, GeneCard:GAPDHP64, HGNC:HGNC:4158, NCBI Gene:391069, RefSeq DNA:NG_006130, RefSeq DNA:NT_032977 No chr1 117256257 117257533 116713635 116714911 +PA28556 389849 HGNC:4143 ENSG00000235587 glyceraldehyde 3 phosphate dehydrogenase pseudogene 65 GAPDHP65 Yes No Ensembl:ENSG00000235587, GenAtlas:GAPDHL10, GeneCard:GAPDHP65, HGNC:HGNC:4143, NCBI Gene:389849, RefSeq DNA:NG_006129, RefSeq DNA:NT_079573 No chrX 46298945 46300220 46439512 46440785 +PA28557 645256 HGNC:4144 ENSG00000250933 glyceraldehyde-3-phosphate dehydrogenase pseudogene 66 GAPDHP66 Yes No Ensembl:ENSG00000250933, GenAtlas:GAPDHL11, GeneCard:GAPDHP66, HGNC:HGNC:4144, NCBI Gene:645256, RefSeq DNA:NG_007000, RefSeq DNA:NT_010859 No chr18 3977457 3978686 3977457 3978686 +PA28558 2609 HGNC:4145 ENSG00000219930 glyceraldehyde 3 phosphate dehydrogenase pseudogene 67 GAPDHP67 Yes No Ensembl:ENSG00000219930, GenAtlas:GAPDHL12, GeneCard:GAPDHP67, HGNC:HGNC:4145, NCBI Gene:2609, RefSeq DNA:NG_006127, RefSeq DNA:NT_011786 No chrX 135160036 135160791 136077877 136078632 +PA28559 100132601 HGNC:4146 ENSG00000233876 glyceraldehyde 3 phosphate dehydrogenase pseudogene 68 GAPDHP68 Yes No Ensembl:ENSG00000233876, GenAtlas:GAPDHL13, GeneCard:GAPDHP68, HGNC:HGNC:4146, NCBI Gene:100132601, RefSeq DNA:NG_009341, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 9654538 9655816 9614908 9616186 +PA28560 2611 HGNC:4147 ENSG00000223460 glyceraldehyde 3 phosphate dehydrogenase pseudogene 69 GAPDHP69 Yes No Ensembl:ENSG00000223460, GenAtlas:GAPDHL14, GeneCard:GAPDHP69, HGNC:HGNC:4147, NCBI Gene:2611, RefSeq DNA:NG_009332, RefSeq DNA:NT_024524 No chr13 29880844 29882111 29306707 29307974 +PA28561 642259 HGNC:4148 ENSG00000249489 glyceraldehyde 3 phosphate dehydrogenase pseudogene 70 GAPDHP70 Yes No Ensembl:ENSG00000249489, GenAtlas:GAPDHL15, GeneCard:GAPDHP70, HGNC:HGNC:4148, NCBI Gene:642259, RefSeq DNA:NG_007004, RefSeq DNA:NT_167190 No chr11 88141142 88142458 88407977 88409290 +PA28562 2613 HGNC:4149 ENSG00000213376 glyceraldehyde-3-phosphate dehydrogenase pseudogene 71 GAPDHP71 Yes No Ensembl:ENSG00000213376, GenAtlas:GAPDHL16, GeneCard:GAPDHP71, HGNC:HGNC:4149, NCBI Gene:2613, RefSeq DNA:NG_003027, RefSeq DNA:NT_023133 No chr5 173940236 173941522 174513233 174514513 +PA134939196 346085 HGNC:22955 ENSG00000216624 glyceraldehyde-3-phosphate dehydrogenase pseudogene 72 GAPDHP72 Yes No Ensembl:ENSG00000216624, GeneCard:GAPDHP72, HGNC:HGNC:22955, NCBI Gene:346085, RefSeq DNA:NG_009329, RefSeq DNA:NT_025741 No chr6 166477708 166478996 166064220 166065502 +PA134945022 442262 HGNC:22956 ENSG00000226540 glyceraldehyde-3-phosphate dehydrogenase pseudogene 73 GAPDHP73 Yes No Ensembl:ENSG00000226540, GeneCard:GAPDHP73, HGNC:HGNC:22956, NCBI Gene:442262, RefSeq DNA:NG_007007, RefSeq DNA:NT_025741 No chr6 135940105 135941383 135618967 135620245 +PA134934259 26330 HGNC:24864 ENSG00000105679 glyceraldehyde-3-phosphate dehydrogenase, spermatogenic GAPDHS GAPD2, GAPDH-2, GAPDS Yes No Ensembl:ENSG00000105679, GeneCard:GAPDHS, HGNC:HGNC:24864, HumanCyc Gene:HS02793, ModBase:O14556, NCBI Gene:26330, OMIM:609169, RefSeq DNA:NT_011109, RefSeq Protein:NP_055179, RefSeq RNA:NM_014364, UniProtKB:O14556 No chr19 36024314 36036221 35533338 35545319 +PA164720193 202309 HGNC:26588 ENSG00000175857 GRB2 binding adaptor protein, transmembrane GAPT """GRB2-binding adaptor protein, transmembrane"", ""GRB2-binding transmembrane adaptor""" C5orf29, FLJ33641 Yes No Ensembl:ENSG00000175857, GeneCard:GAPT, HGNC:HGNC:26588, HumanCyc Gene:HS16530, NCBI Gene:202309, RefSeq DNA:NT_006713, RefSeq Protein:NP_689900, RefSeq RNA:NM_152687, UniProtKB:Q8N292 No chr5 57787262 57792185 58491435 58496358 +PA142671748 26130 HGNC:23375 ENSG00000165219 GTPase activating protein and VPS9 domains 1 GAPVD1 DKFZP434C212, KIAA1521 Yes Yes Comparative Toxicogenomics Database:26130, Ensembl:ENSG00000165219, GeneCard:GAPVD1, HGNC:HGNC:23375, NCBI Gene:26130, OMIM:611714, RefSeq DNA:NT_008470, RefSeq Protein:NP_056450, RefSeq RNA:NM_015635, UniProtKB:B3KN67, UniProtKB:Q14C86 No chr9 128024073 128127290 125261794 125365011 +PA164720194 54433 HGNC:14264 ENSG00000109534 GAR1 ribonucleoprotein GAR1 GAR1 ribonucleoprotein homolog (yeast) NOLA1 Yes No Ensembl:ENSG00000109534, GeneCard:GAR1, HGNC:HGNC:14264, HumanCyc Gene:HS03236, ModBase:Q9NY12, NCBI Gene:54433, OMIM:606468, RefSeq DNA:NT_016354, RefSeq Protein:NP_061856, RefSeq Protein:NP_127460, RefSeq RNA:NM_018983, RefSeq RNA:NM_032993, UniProtKB:Q9NY12 No chr4 110736666 110745893 109815510 109824737 +PA134888032 64762 HGNC:26136 ENSG00000141441 GRB2 associated regulator of MAPK1 subtype 1 GAREM1 """GRB2 associated, regulator of MAPK1"", ""Grb2-associated and regulator of Erk/MAPK""" C18orf11, FAM59A, FLJ21610, GAREM Yes No Ensembl:ENSG00000141441, GeneCard:FAM59A, HGNC:HGNC:26136, HumanCyc Gene:HS13880, ModBase:Q9H706, NCBI Gene:64762, RefSeq DNA:NT_010966, RefSeq Protein:NP_001229338, RefSeq Protein:NP_073588, RefSeq RNA:NM_001242409, RefSeq RNA:NM_022751, UniProtKB:Q9H706 No chr18 29843484 30050447 32263521 32470518 +PA142671865 150946 HGNC:27172 ENSG00000157833 GRB2 associated regulator of MAPK1 subtype 2 GAREM2 GRB2 associated, regulator of MAPK1-like FAM59B, FLJ00375, GAREML, KIAA2038 Yes No Ensembl:ENSG00000157833, GeneCard:FAM59B, HGNC:HGNC:27172, NCBI Gene:150946, RefSeq DNA:NT_022184, RefSeq Protein:NP_001161713, RefSeq Protein:NP_001177962, RefSeq RNA:NM_001168241, RefSeq RNA:NM_001191033, RefSeq RNA:XR_041887, RefSeq RNA:XR_041888, RefSeq RNA:XR_041889, UniProtKB:Q75VX8 No chr2 26395960 26412532 26173091 26202405 +PA166351808 346653 HGNC:27998 golgi associated RAB2 interactor 1A GARIN1A Golgi-associated RAB2B interactor FAM137B, FAM71F2, GARI Yes No HGNC:HGNC:27998, NCBI Gene:346653 No 0 0 0 0 +PA166351809 84691 HGNC:30704 golgi associated RAB2 interactor 1B GARIN1B Golgi-associated RAB2B interactor like 1 FAM137A, FAM71F1, GARI-L1, NYD-SP18 Yes No HGNC:HGNC:30704, NCBI Gene:84691 No 0 0 0 0 +PA166351810 161142 HGNC:20101 golgi associated RAB2 interactor family member 2 GARIN2 C14orf54, FAM71D, GARI-L2 Yes No HGNC:HGNC:20101, NCBI Gene:161142 No 0 0 0 0 +PA166351811 153745 HGNC:28397 golgi associated RAB2 interactor family member 3 GARIN3 FAM71B, GARI-L3, MGC26988 Yes No HGNC:HGNC:28397, NCBI Gene:153745 No 0 0 0 0 +PA166351812 149647 HGNC:26541 golgi associated RAB2 interactor family member 4 GARIN4 Golgi-associated Rab2B interactor-like 4 FAM71A, FLJ32796, GARI-L4 Yes No HGNC:HGNC:26541, NCBI Gene:149647 No 0 0 0 0 +PA166351813 112703 HGNC:25107 golgi associated RAB2 interactor 5A GARIN5A GARI like 5 FAM71E1, GARIL5 Yes No HGNC:HGNC:25107, NCBI Gene:112703 No 0 0 0 0 +PA166351814 284418 HGNC:25278 golgi associated RAB2 interactor family member 5B GARIN5B C19orf16, DKFZp434G1729, FAM71E2 Yes No HGNC:HGNC:25278, NCBI Gene:284418 No 0 0 0 0 +PA166351815 196472 HGNC:28594 golgi associated RAB2 interactor family member 6 GARIN6 FAM71C, MGC39520 Yes No HGNC:HGNC:28594, NCBI Gene:196472 No 0 0 0 0 +PA134861523 84253 HGNC:25425 ENSG00000136895 GTPase activating Rap/RanGAP domain like 3 GARNL3 GTPase activating Rap/RanGAP domain-like 3 DKFZp761J1523, bA356B19.1 Yes No Ensembl:ENSG00000136895, GeneCard:GARNL3, HGNC:HGNC:25425, HumanCyc Gene:HS06242, NCBI Gene:84253, RefSeq DNA:NT_008470, RefSeq Protein:NP_115669, RefSeq RNA:NM_032293, UniProtKB:Q5VVW2 No chr9 129986750 130155828 127224471 127393655 +PA166351816 9710 HGNC:29016 granule associated Rac and RHOG effector 1 GARRE1 KIAA0355, MiniBAR Yes No HGNC:HGNC:29016, NCBI Gene:9710 No 0 0 0 0 +PA28575 2617 HGNC:4162 glycyl-tRNA synthetase 1 GARS1 glycine tRNA ligase, glycyl-tRNA synthetase CMT2D, DSMAV, GARS, GlyRS, SMAD1 Yes Yes Comparative Toxicogenomics Database:2617, GenAtlas:GARS, GeneCard:GARS, HGNC:HGNC:4162, HumanCyc Gene:HS02863, ModBase:P41250, NCBI Gene:2617, OMIM:600287, OMIM:600794, OMIM:601472, RefSeq DNA:NG_007942, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002038, RefSeq RNA:NM_002047, UCSC Genome Browser:NM_002047, UniProtKB:P41250 No chr7 30634181 30673649 30594735 30634033 +PA28576 2618 HGNC:4163 ENSG00000159131 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase GART GAR transformylase, Glycinamide ribonucleotide formyltransferase, Trifunctional purine biosynthetic protein adenosine-3, glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase GARS-AIRS-GART, PGFT, PRGS Yes No Comparative Toxicogenomics Database:2618, Ensembl:ENSG00000159131, GenAtlas:GART, GeneCard:GART, HGNC:HGNC:4163, HumanCyc Gene:HS08358, ModBase:P22102, NCBI Gene:2618, OMIM:138440, RefSeq DNA:NT_011512, RefSeq Protein:NP_000810, RefSeq Protein:NP_001129477, RefSeq Protein:NP_001129478, RefSeq Protein:NP_780294, RefSeq RNA:NM_000819, RefSeq RNA:NM_001136005, RefSeq RNA:NM_001136006, RefSeq RNA:NM_175085, UCSC Genome Browser:NM_000819, UniProtKB:P22102, UniProtKB:Q59HH3 No chr21 34876238 34915223 33503931 33542917 +PA28578 2619 HGNC:4165 ENSG00000180447 growth arrest specific 1 GAS1 Growth arrest-specific gene-1, growth arrest-specific 1 Yes No Comparative Toxicogenomics Database:2619, Ensembl:ENSG00000180447, GenAtlas:GAS1, GeneCard:GAS1, HGNC:HGNC:4165, HumanCyc Gene:HS11494, NCBI Gene:2619, OMIM:139185, RefSeq DNA:NT_008470, RefSeq Protein:NP_002039, RefSeq RNA:NM_002048, UCSC Genome Browser:NM_002048, UniProtKB:P54826 No chr9 89559277 89562104 86944362 86947189 +PA28580 2620 HGNC:4167 ENSG00000148935 growth arrest specific 2 GAS2 growth arrest-specific 2 Yes No Comparative Toxicogenomics Database:2620, Ensembl:ENSG00000148935, GenAtlas:GAS2, GeneCard:GAS2, HGNC:HGNC:4167, HumanCyc Gene:HS07572, ModBase:O43903, NCBI Gene:2620, OMIM:602835, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137302, RefSeq Protein:NP_005247, RefSeq Protein:NP_808221, RefSeq RNA:NM_001143830, RefSeq RNA:NM_005256, RefSeq RNA:NM_177553, UCSC Genome Browser:NM_005256, UniProtKB:O43903 No chr11 22688160 22834547 22626113 22885930 +PA38195 10634 HGNC:16955 ENSG00000185340 growth arrest specific 2 like 1 GAS2L1 growth arrest-specific 2 like 1 GAR22 Yes No Comparative Toxicogenomics Database:10634, Ensembl:ENSG00000185340, GenAtlas:GAS2L1, GeneCard:GAS2L1, HGNC:HGNC:16955, ModBase:Q99501, NCBI Gene:10634, OMIM:602128, RefSeq DNA:NT_011520, RefSeq Protein:NP_006469, RefSeq Protein:NP_689422, RefSeq Protein:NP_689423, RefSeq RNA:NM_006478, RefSeq RNA:NM_152236, RefSeq RNA:NM_152237, UCSC Genome Browser:NM_006478, UniProtKB:A0A5E8, UniProtKB:Q99501 No chr22 29702985 29708778 29306618 29312789 +PA134986846 246176 HGNC:24846 ENSG00000270765 growth arrest specific 2 like 2 GAS2L2 growth arrest-specific 2 like 2 GAR17 Yes No Ensembl:ENSG00000270765, GeneCard:GAS2L2, HGNC:HGNC:24846, HumanCyc Gene:HS05596, ModBase:Q8NHY3, NCBI Gene:246176, OMIM:611398, RefSeq DNA:NT_010799, RefSeq Protein:NP_644814, RefSeq RNA:NM_139285, UniProtKB:Q8NHY3 No chr17 34071530 34079897 35744511 35752878 +PA134979032 283431 HGNC:27475 ENSG00000139354 growth arrest specific 2 like 3 GAS2L3 growth arrest-specific 2 like 3 Yes No Ensembl:ENSG00000139354, GeneCard:GAS2L3, HGNC:HGNC:27475, ModBase:Q86XJ1, NCBI Gene:283431, RefSeq DNA:NT_029419, RefSeq Protein:NP_777602, RefSeq RNA:NM_174942, UniProtKB:Q86XJ1 No chr12 100967446 101020657 100573661 100628288 +PA28581 60674 HGNC:16355 ENSG00000234741 growth arrest-specific 5 (non-protein coding) GAS5 non-protein coding RNA 30, small nucleolar RNA host gene (non-protein coding) 2 NCRNA00030, SNHG2 Yes No Comparative Toxicogenomics Database:60674, Ensembl:ENSG00000234741, GenAtlas:GAS5, GeneCard:GAS5, HGNC:HGNC:16355, NCBI Gene:60674, OMIM:608280, RefSeq DNA:NT_004487, RefSeq RNA:NR_002578 No chr1 173833039 173837125 173863901 173867987 +PA28582 2621 HGNC:4168 ENSG00000183087 growth arrest specific 6 GAS6 AXL stimulatory factor, growth arrest-specific 6 AXLLG, AXSF, DKFZp666G247, FLJ34709 Yes No Comparative Toxicogenomics Database:2621, Ensembl:ENSG00000183087, GenAtlas:GAS6, GeneCard:GAS6, HGNC:HGNC:4168, ModBase:Q14393, NCBI Gene:2621, OMIM:600441, RefSeq DNA:NT_077627, RefSeq Protein:NP_000811, RefSeq Protein:NP_001137417, RefSeq Protein:NP_001137418, RefSeq RNA:NM_000820, RefSeq RNA:NM_001143945, RefSeq RNA:NM_001143946, UCSC Genome Browser:NM_000820, UniProtKB:B3KRQ7, UniProtKB:B3KVL4, UniProtKB:Q14393 No chr13 114523522 114567046 113820549 113864103 +PA28583 8522 HGNC:4169 ENSG00000007237 growth arrest specific 7 GAS7 growth arrest-specific 7 KIAA0394, MGC1348 Yes No Comparative Toxicogenomics Database:8522, Ensembl:ENSG00000007237, GenAtlas:GAS7, GeneCard:GAS7, HGNC:HGNC:4169, HumanCyc Gene:HS00208, ModBase:O60861, NCBI Gene:8522, OMIM:603127, RefSeq DNA:NT_010718, RefSeq Protein:NP_001124303, RefSeq Protein:NP_003635, RefSeq Protein:NP_958836, RefSeq Protein:NP_958839, RefSeq RNA:NM_001130831, RefSeq RNA:NM_003644, RefSeq RNA:NM_201432, RefSeq RNA:NM_201433, UCSC Genome Browser:NM_003644, UniProtKB:A8KAC2, UniProtKB:O60861 No chr17 9813926 10101868 9910609 10198551 +PA28579 2622 HGNC:4166 ENSG00000141013 growth arrest specific 8 GAS8 growth arrest-specific 8 DRC4, GAS11 Yes No Comparative Toxicogenomics Database:2622, Ensembl:ENSG00000141013, GeneCard:GAS8, HGNC:HGNC:4166, HumanCyc Gene:HS06791, ModBase:O95995, NCBI Gene:2622, OMIM:605178, RefSeq DNA:NT_010542, RefSeq Protein:NP_001472, RefSeq RNA:NM_001481, RefSeq RNA:NR_023348, UCSC Genome Browser:NM_001481, UniProtKB:O95995 No chr16 90086056 90111379 90019629 90044971 +PA165697369 729085 HGNC:24485 ENSG00000144649 golgi associated kinase 1A GASK1A """family with sequence similarity 198 member A"", ""family with sequence similarity 198, member A""" C3orf41, DKFZP434B172, FAM198A Yes No Ensembl:ENSG00000144649, GeneCard:FAM198A, HGNC:HGNC:24485, NCBI Gene:729085, RefSeq DNA:NT_022517, RefSeq Protein:NP_001123380, RefSeq RNA:NM_001129908, UniProtKB:Q9UFP1 No chr3 43020759 43099207 42979267 43057715 +PA165664058 51313 HGNC:25312 ENSG00000164125 golgi associated kinase 1B GASK1B """Expressed in Nerve and Epithelium during Development"", ""family with sequence similarity 198 member B"", ""family with sequence similarity 198, member B""" C4orf18, DKFZp434L142, ENED, FAM198B, FLJ38155 Yes No Comparative Toxicogenomics Database:51313, Ensembl:ENSG00000164125, GeneCard:FAM198B, HGNC:HGNC:25312, HumanCyc Gene:HS15156, ModBase:Q6UWH4, NCBI Gene:51313, RefSeq DNA:NT_016354, RefSeq Protein:NP_001026870, RefSeq Protein:NP_001121896, RefSeq Protein:NP_057697, RefSeq RNA:NM_001031700, RefSeq RNA:NM_001128424, RefSeq RNA:NM_016613, UniProtKB:Q6UWH4, UniProtKB:Q9NYZ0 No chr4 159045732 159094202 158124580 158173050 +PA28577 2520 HGNC:4164 ENSG00000184502 gastrin GAST preprogastrin GAS Yes No Comparative Toxicogenomics Database:2520, Ensembl:ENSG00000184502, GenAtlas:GAST, GeneCard:GAST, HGNC:HGNC:4164, NCBI Gene:2520, OMIM:137250, RefSeq DNA:NT_010783, RefSeq Protein:NP_000796, RefSeq RNA:NM_000805, UCSC Genome Browser:NM_000805, UniProtKB:P01350 No chr17 39868578 39872221 41712326 41715969 +PA28584 2623 HGNC:4170 ENSG00000102145 GATA binding protein 1 GATA1 """GATA binding protein 1 (globin transcription factor 1)"", ""nuclear factor, erythroid 1""" ERYF1, GATA-1, GF1, NF-E1, NFE1 Yes No Comparative Toxicogenomics Database:2623, Ensembl:ENSG00000102145, GenAtlas:GATA1, GeneCard:GATA1, HGNC:HGNC:4170, HumanCyc Gene:HS02360, ModBase:P15976, NCBI Gene:2623, OMIM:190685, OMIM:300367, OMIM:305371, OMIM:314050, RefSeq DNA:NG_008846, RefSeq DNA:NT_079573, RefSeq Protein:NP_002040, RefSeq RNA:NM_002049, UCSC Genome Browser:NM_002049, UniProtKB:P15976 No chrX 48644982 48652718 48786540 48794311 +PA28585 2624 HGNC:4171 ENSG00000179348 GATA binding protein 2 GATA2 NFE1B Yes No Comparative Toxicogenomics Database:2624, Ensembl:ENSG00000179348, GenAtlas:GATA2, GeneCard:GATA2, HGNC:HGNC:4171, ModBase:P23769, NCBI Gene:2624, OMIM:137295, RefSeq DNA:NT_005612, RefSeq Protein:NP_001139133, RefSeq Protein:NP_001139134, RefSeq Protein:NP_116027, RefSeq RNA:NM_001145661, RefSeq RNA:NM_001145662, RefSeq RNA:NM_032638, UCSC Genome Browser:NM_002050, UCSC Genome Browser:NM_032638, UniProtKB:P23769, UniProtKB:Q96BH8 No chr3 128198265 128212030 128479422 128493187 +PA28586 2625 HGNC:4172 ENSG00000107485 GATA binding protein 3 GATA3 HDR Yes Yes Comparative Toxicogenomics Database:2625, Ensembl:ENSG00000107485, GenAtlas:GATA3, GeneCard:GATA3, HGNC:HGNC:4172, HumanCyc Gene:HS03000, ModBase:P23771, NCBI Gene:2625, OMIM:131320, OMIM:146255, RefSeq DNA:NG_015859, RefSeq DNA:NT_008705, RefSeq Protein:NP_001002295, RefSeq Protein:NP_002042, RefSeq RNA:NM_001002295, RefSeq RNA:NM_002051, UCSC Genome Browser:NM_002051, UniProtKB:P23771 No chr10 8087294 8117164 8045421 8075201 +PA28587 2626 HGNC:4173 ENSG00000136574 GATA binding protein 4 GATA4 Yes Yes Comparative Toxicogenomics Database:2626, Ensembl:ENSG00000136574, GenAtlas:GATA4, GeneCard:GATA4, HGNC:HGNC:4173, HumanCyc Gene:HS06185, ModBase:P43694, NCBI Gene:2626, OMIM:600576, OMIM:607941, RefSeq DNA:NG_008177, RefSeq DNA:NT_077531, RefSeq Protein:NP_002043, RefSeq RNA:NM_002052, UCSC Genome Browser:NM_002052, UniProtKB:P43694 No chr8 11534433 11617510 11676919 11760002 +PA28588 140628 HGNC:15802 ENSG00000130700 GATA binding protein 5 GATA5 GATAS, bB379O24.1 Yes No Ensembl:ENSG00000130700, GenAtlas:GATA5, GeneCard:GATA5, HGNC:HGNC:15802, HumanCyc Gene:HS05421, ModBase:Q9BWX5, NCBI Gene:140628, OMIM:611496, RefSeq DNA:NT_011362, RefSeq Protein:NP_536721, RefSeq RNA:NM_080473, UCSC Genome Browser:NM_080473, UniProtKB:Q9BWX5 No chr20 61038553 61051026 62463497 62475970 +PA28589 2627 HGNC:4174 ENSG00000141448 GATA binding protein 6 GATA6 Yes No Comparative Toxicogenomics Database:2627, Ensembl:ENSG00000141448, GenAtlas:GATA6, GeneCard:GATA6, HGNC:HGNC:4174, HumanCyc Gene:HS06830, ModBase:Q92908, NCBI Gene:2627, OMIM:601656, RefSeq DNA:NT_010966, RefSeq Protein:NP_005248, RefSeq RNA:NM_005257, UCSC Genome Browser:NM_005257, UniProtKB:Q05CA6, UniProtKB:Q92908 No chr18 19749404 19782491 22169437 22202528 +PA142671745 57798 HGNC:29941 ENSG00000157259 GATA zinc finger domain containing 1 GATAD1 ocular development associated gene FLJ22489, ODAG, RG083M05.2 Yes No Ensembl:ENSG00000157259, GeneCard:GATAD1, HGNC:HGNC:29941, HumanCyc Gene:HS08197, ModBase:Q8WUU5, NCBI Gene:57798, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_066990, RefSeq RNA:NM_021167, UniProtKB:Q8WUU5 No chr7 92076762 92089381 92447448 92494631 +PA142671746 54815 HGNC:29989 ENSG00000167491 GATA zinc finger domain containing 2A GATAD2A p66 alpha p66alpha Yes No Comparative Toxicogenomics Database:54815, Ensembl:ENSG00000167491, GeneCard:GATAD2A, HGNC:HGNC:29989, HumanCyc Gene:HS09564, NCBI Gene:54815, RefSeq DNA:NT_011295, RefSeq Protein:NP_060130, RefSeq RNA:NM_017660, UniProtKB:Q86YP4 No chr19 19496642 19619741 19385833 19508932 +PA142671747 57459 HGNC:30778 ENSG00000143614 GATA zinc finger domain containing 2B GATAD2B transcription repressor p66 beta component of the MeCP1 complex P66beta Yes No Comparative Toxicogenomics Database:57459, Ensembl:ENSG00000143614, GeneCard:GATAD2B, HGNC:HGNC:30778, HumanCyc Gene:HS07085, ModBase:Q8WXI9, NCBI Gene:57459, RefSeq DNA:NT_004487, RefSeq Protein:NP_065750, RefSeq RNA:NM_020699, UniProtKB:Q8WXI9 No chr1 153777201 153895451 153804725 153922975 +PA33191 5188 HGNC:8849 ENSG00000059691 glutamyl-tRNA amidotransferase subunit B GATB """PET112 homolog (yeast)"", ""glutamyl-tRNA(Gln) amidotransferase, subunit B""" PET112, PET112L Yes No Comparative Toxicogenomics Database:5188, Ensembl:ENSG00000059691, GenAtlas:PET112L, GeneCard:PET112L, HGNC:HGNC:8849, HumanCyc Gene:HS00732, ModBase:O75879, NCBI Gene:5188, OMIM:603645, RefSeq DNA:NT_016354, RefSeq Protein:NP_004555, RefSeq RNA:NM_004564, UCSC Genome Browser:NM_004564, UniProtKB:O75879, UniProtKB:Q4W5M8 No chr4 152591808 152682175 151669773 151761023 +PA162389278 283459 HGNC:25068 ENSG00000257218 glutamyl-tRNA amidotransferase subunit C GATC glutamyl-tRNA(Gln) amidotransferase, subunit C 15E1.2, FLJ37000, gatC Yes No Ensembl:ENSG00000257218, GeneCard:GATC, HGNC:HGNC:25068, ModBase:O43716, NCBI Gene:283459, RefSeq DNA:NT_009775, RefSeq Protein:NP_789788, RefSeq RNA:NM_176818, RefSeq RNA:NR_033684, UniProtKB:O43716 No chr12 120884241 120901556 120446438 120463753 +PA142671193 347862 HGNC:26616 ENSG00000177225 glutamine amidotransferase class 1 domain containing 1 GATD1 Parkinson disease 7 domain containing 1, glutamine amidotransferase like class 1 domain containing 1 FERRY5, FLJ34283, Fy-5, PDDC1 Yes No Ensembl:ENSG00000177225, GeneCard:PDDC1, HGNC:HGNC:26616, ModBase:Q8NB37, NCBI Gene:347862, RefSeq DNA:NT_009237, RefSeq Protein:NP_872418, RefSeq RNA:NM_182612, UniProtKB:Q8NB37 No chr11 767222 777501 767095 777502 +PA166351817 8209 HGNC:1273 glutamine amidotransferase class 1 domain containing 3 GATD3 ES1 protein homolog C21orf33, D21S2048E, ES1, GATD3A, GT335, HES1, KNP-I, KNP-Ia, KNPH, KNPI Yes No HGNC:HGNC:1273, NCBI Gene:8209 No 0 0 0 0 +PA166351818 HGNC:53816 glutamine amidotransferase class 1 domain containing 3B GATD3B Yes No HGNC:HGNC:53816 No 0 0 0 0 +PA28590 2628 HGNC:4175 ENSG00000171766 glycine amidinotransferase GATM L-arginine:glycine amidinotransferase, glycine amidinotransferase (L-arginine:glycine amidinotransferase) AGAT Yes Yes Comparative Toxicogenomics Database:2628, Ensembl:ENSG00000171766, GenAtlas:GATM, GeneCard:GATM, HGNC:HGNC:4175, HumanCyc Gene:HS10376, NCBI Gene:2628, OMIM:602360, OMIM:612718, RefSeq DNA:NG_011674, RefSeq DNA:NT_010194, RefSeq Protein:NP_001473, RefSeq RNA:NM_001482, UCSC Genome Browser:NM_001482, UniProtKB:P50440 No chr15 45653322 45670980 45361124 45402317 +PA28591 2629 HGNC:4177 ENSG00000177628 glucosylceramidase beta 1 GBA1 """glucocerebrosidase"", ""glucosidase, beta, acid"", ""glucosylceramidase beta""" GBA, GBA1, GLUC Yes No Comparative Toxicogenomics Database:2629, Ensembl:ENSG00000177628, GenAtlas:GBA, GeneCard:GBA, HGNC:HGNC:4177, HumanCyc Gene:HS11195, ModBase:P04062, NCBI Gene:2629, OMIM:230800, OMIM:230900, OMIM:231000, OMIM:231005, OMIM:606463, OMIM:608013, RefSeq DNA:NG_009783, RefSeq DNA:NT_004487, RefSeq Protein:NP_000148, RefSeq Protein:NP_001005741, RefSeq Protein:NP_001005742, RefSeq Protein:NP_001005749, RefSeq Protein:NP_001005750, RefSeq Protein:NP_001165282, RefSeq Protein:NP_001165283, RefSeq RNA:NM_000157, RefSeq RNA:NM_001005741, RefSeq RNA:NM_001005742, RefSeq RNA:NM_001005749, RefSeq RNA:NM_001005750, RefSeq RNA:NM_001171811, RefSeq RNA:NM_001171812, UCSC Genome Browser:NM_000157, UniProtKB:B7Z6S1, UniProtKB:B7Z6S9, UniProtKB:P04062 No chr1 155204239 155214653 155234448 155244862 +PA38773 57704 HGNC:18986 ENSG00000070610 glucosylceramidase beta 2 GBA2 """bile acid beta-glucosidase"", ""glucocerebrosidase 2"", ""glucosidase, beta (bile acid) 2"", ""non-lysosomal glucosylceramidase""" AD035, DKFZp762K054, KIAA1605, SPG46 Yes No Comparative Toxicogenomics Database:57704, Ensembl:ENSG00000070610, GenAtlas:GBA2, GeneCard:GBA2, HGNC:HGNC:18986, HumanCyc Gene:HS01000, ModBase:Q9HCG7, NCBI Gene:57704, OMIM:609471, RefSeq DNA:NT_008413, RefSeq Protein:NP_065995, RefSeq RNA:NM_020944, UCSC Genome Browser:NM_020944, UniProtKB:Q9HCG7 No chr9 35736863 35749925 35736862 35749255 +PA134861643 57733 HGNC:19069 ENSG00000249948 glucosylceramidase beta 3 (gene/pseudogene) GBA3 """cytosolic β-glucosidase-like protein-1"", ""cytosolic β-glucosidase-like protein-1"", ""glucosidase, beta, acid 3 (cytosolic)"", ""glucosidase, beta, acid 3 (gene/pseudogene)"", ""klotho-related protein""" CBGL1, GLUC, KLrP Yes No Ensembl:ENSG00000249948, GeneCard:GBA3, HGNC:HGNC:19069, HumanCyc Gene:HS11014, ModBase:Q9H227, NCBI Gene:57733, OMIM:606619, RefSeq DNA:NT_006316, RefSeq Protein:NP_001121904, RefSeq Protein:NP_066024, RefSeq RNA:NM_001128432, RefSeq RNA:NM_020973, UniProtKB:A8K9N1, UniProtKB:Q9H227 No chr4 22694537 22821198 22692914 22819575 +PA28592 2630 HGNC:4178 ENSG00000160766 glucosidase, beta, acid pseudogene 1 GBAP1 Yes No Comparative Toxicogenomics Database:2630, Ensembl:ENSG00000160766, GenAtlas:GBAP, GeneCard:GBAP1, HGNC:HGNC:4178, NCBI Gene:2630, RefSeq DNA:NT_004487, RefSeq RNA:NR_002188, RefSeq RNA:XR_042183 No chr1 155183616 155197325 155213825 155227534 +PA28594 2632 HGNC:4180 ENSG00000114480 1,4-alpha-glucan branching enzyme 1 GBE1 """Andersen disease"", ""glucan (1,4-alpha-), branching enzyme 1"", ""glycogen branching enzyme"", ""glycogen storage disease type IV""" Yes No Comparative Toxicogenomics Database:2632, Ensembl:ENSG00000114480, GenAtlas:GBE1, GeneCard:GBE1, HGNC:HGNC:4180, HumanCyc Gene:HS03772, ModBase:Q04446, NCBI Gene:2632, OMIM:232500, OMIM:607839, RefSeq DNA:NG_011810, RefSeq DNA:NT_022459, RefSeq Protein:NP_000149, RefSeq RNA:NM_000158, UCSC Genome Browser:NM_000158, UniProtKB:B3KWV3, UniProtKB:Q04446, UniProtKB:Q59ET0 No chr3 81538850 81810950 81489699 81761799 +PA28595 8729 HGNC:4181 ENSG00000107862 golgi brefeldin A resistant guanine nucleotide exchange factor 1 GBF1 ARF1GEF, KIAA0248 Yes No Ensembl:ENSG00000107862, GenAtlas:GBF1, GeneCard:GBF1, HGNC:HGNC:4181, HumanCyc Gene:HS03039, ModBase:Q92538, NCBI Gene:8729, OMIM:603698, RefSeq DNA:NT_030059, RefSeq Protein:NP_001186307, RefSeq Protein:NP_001186308, RefSeq Protein:NP_004184, RefSeq RNA:NM_001199378, RefSeq RNA:NM_001199379, RefSeq RNA:NM_004193, UCSC Genome Browser:NM_004193, UniProtKB:Q92538 No chr10 104005255 104142656 102245498 102382899 +PA134967297 26301 HGNC:20460 ENSG00000148288 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) GBGT1 """Forssman blood group"", ""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"", ""globoside alpha-1,3-N-acetylgalactosaminyltransferase 1""" A3GALNT, FS, MGC44848, UDP-GalNAc Yes No Ensembl:ENSG00000148288, GeneCard:GBGT1, HGNC:HGNC:20460, HumanCyc Gene:HS07505, ModBase:Q8N5D6, NCBI Gene:26301, OMIM:606074, RefSeq DNA:NT_035014, RefSeq Protein:NP_068836, RefSeq RNA:NM_021996, UniProtKB:Q8N5D6 No chr9 136028335 136039320 133152948 133163945 +PA28596 2633 HGNC:4182 ENSG00000117228 guanylate binding protein 1 GBP1 guanylate binding protein 1, interferon-inducible Yes No Comparative Toxicogenomics Database:2633, Ensembl:ENSG00000117228, GenAtlas:GBP1, GeneCard:GBP1, HGNC:HGNC:4182, HumanCyc Gene:HS04106, ModBase:P32455, NCBI Gene:2633, OMIM:600411, RefSeq DNA:NT_032977, RefSeq Protein:NP_002044, RefSeq RNA:NM_002053, UCSC Genome Browser:NM_002053, UniProtKB:P32455 No chr1 89517987 89531043 89052304 89065360 +PA28597 2634 HGNC:4183 ENSG00000162645 guanylate binding protein 2 GBP2 guanylate binding protein 2, interferon-inducible Yes No Comparative Toxicogenomics Database:2634, Ensembl:ENSG00000162645, GenAtlas:GBP2, GeneCard:GBP2, HGNC:HGNC:4183, HumanCyc Gene:HS08712, ModBase:P32456, NCBI Gene:2634, OMIM:600412, RefSeq DNA:NT_032977, RefSeq Protein:NP_004111, RefSeq RNA:NM_004120, UCSC Genome Browser:NM_004120, UniProtKB:P32456, UniProtKB:Q8TCE5 No chr1 89571815 89591842 89106132 89126159 +PA28598 2635 HGNC:4184 ENSG00000117226 guanylate binding protein 3 GBP3 FLJ10961 Yes No Ensembl:ENSG00000117226, GenAtlas:GBP3, GeneCard:GBP3, HGNC:HGNC:4184, HumanCyc Gene:HS04105, ModBase:Q9NV33, NCBI Gene:2635, OMIM:600413, RefSeq DNA:NT_032977, RefSeq Protein:NP_060754, RefSeq RNA:NM_018284, UCSC Genome Browser:NM_018284, UniProtKB:Q9H0R5 No chr1 89472360 89488556 89006677 89022880 +PA134959399 115361 HGNC:20480 ENSG00000162654 guanylate binding protein 4 GBP4 Mpa2 Yes No Comparative Toxicogenomics Database:115361, Ensembl:ENSG00000162654, GeneCard:GBP4, HGNC:HGNC:20480, HumanCyc Gene:HS08713, ModBase:Q96PP9, NCBI Gene:115361, OMIM:612466, RefSeq DNA:NT_032977, RefSeq Protein:NP_443173, RefSeq RNA:NM_052941, UniProtKB:Q96PP9 No chr1 89646831 89664633 89181148 89198950 +PA134862968 115362 HGNC:19895 ENSG00000154451 guanylate binding protein 5 GBP5 Yes No Comparative Toxicogenomics Database:115362, Ensembl:ENSG00000154451, GeneCard:GBP5, HGNC:HGNC:19895, HumanCyc Gene:HS07980, ModBase:Q96PP8, NCBI Gene:115362, OMIM:611467, RefSeq DNA:NT_032977, RefSeq Protein:NP_001127958, RefSeq Protein:NP_443174, RefSeq RNA:NM_001134486, RefSeq RNA:NM_052942, UniProtKB:Q96PP8 No chr1 89724633 89738544 89258950 89272861 +PA134964409 163351 HGNC:25395 ENSG00000183347 guanylate binding protein family member 6 GBP6 guanylate binding protein family, member 6 DKFZp686G0786 Yes Yes Ensembl:ENSG00000183347, GeneCard:GBP6, HGNC:HGNC:25395, ModBase:Q6ZN66, NCBI Gene:163351, OMIM:612467, RefSeq DNA:NT_032977, RefSeq Protein:NP_940862, RefSeq RNA:NM_198460, UniProtKB:Q6ZN66 No chr1 89829436 89853719 89363877 89388160 +PA142671744 388646 HGNC:29606 ENSG00000213512 guanylate binding protein 7 GBP7 FLJ38822, GBP4L Yes No Ensembl:ENSG00000213512, GeneCard:GBP7, HGNC:HGNC:29606, ModBase:Q8N8V2, NCBI Gene:388646, OMIM:612468, RefSeq DNA:NT_032977, RefSeq Protein:NP_997281, RefSeq RNA:NM_207398, UniProtKB:Q8N8V2 No chr1 89597434 89641723 89131751 89176040 +PA28599 2636 HGNC:4185 ENSG00000164900 gastrulation brain homeobox 1 GBX1 Yes No Ensembl:ENSG00000164900, GenAtlas:GBX1, GeneCard:GBX1, HGNC:HGNC:4185, HumanCyc Gene:HS09156, ModBase:Q14549, NCBI Gene:2636, OMIM:603354, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001092304, RefSeq RNA:NM_001098834, UniProtKB:Q14549 No chr7 150845676 150864867 151148009 151167548 +PA28600 2637 HGNC:4186 ENSG00000168505 gastrulation brain homeobox 2 GBX2 Yes No Comparative Toxicogenomics Database:2637, Ensembl:ENSG00000168505, GenAtlas:GBX2, GeneCard:GBX2, HGNC:HGNC:4186, HumanCyc Gene:HS09777, ModBase:P52951, NCBI Gene:2637, OMIM:601135, RefSeq DNA:NT_005120, RefSeq Protein:NP_001476, RefSeq RNA:NM_001485, UCSC Genome Browser:NM_001485, UniProtKB:P52951 No chr2 237074307 237076652 236165236 236168009 +PA28601 2638 HGNC:4187 ENSG00000145321 GC vitamin D binding protein GC """GC, vitamin D binding protein"", ""group-specific component (vitamin D binding protein)""" DBP, VDBP, hDBP Yes Yes Comparative Toxicogenomics Database:2638, Ensembl:ENSG00000145321, GenAtlas:GC, GeneCard:GC, HGNC:HGNC:4187, HumanCyc Gene:HS07243, ModBase:P02774, NCBI Gene:2638, OMIM:139200, OMIM:275000, RefSeq DNA:NG_012837, RefSeq DNA:NT_022778, RefSeq Protein:NP_000574, RefSeq Protein:NP_001191235, RefSeq Protein:NP_001191236, RefSeq RNA:NM_000583, RefSeq RNA:NM_001204306, RefSeq RNA:NM_001204307, UCSC Genome Browser:NM_000583, UniProtKB:P02774 No chr4 72607410 72671237 71741693 71805520 +PA28602 25801 HGNC:15990 ENSG00000115271 grancalcin GCA grancalcin, EF-hand calcium binding protein GCL Yes No Comparative Toxicogenomics Database:25801, Ensembl:ENSG00000115271, GenAtlas:GCA, GeneCard:GCA, HGNC:HGNC:15990, HumanCyc Gene:HS03862, ModBase:P28676, NCBI Gene:25801, OMIM:607030, RefSeq DNA:NT_005403, RefSeq Protein:NP_036330, RefSeq RNA:NM_012198, UCSC Genome Browser:NM_012198, UniProtKB:P28676 No chr2 163200583 163236525 162318768 162371605 +PA28603 23464 HGNC:4188 ENSG00000100116 glycine C-acetyltransferase GCAT 2-amino-3-ketobutyrate coenzyme A ligase KBL Yes No Comparative Toxicogenomics Database:23464, Ensembl:ENSG00000100116, GenAtlas:GCAT, GeneCard:GCAT, HGNC:HGNC:4188, HumanCyc Gene:HS01980, ModBase:O75600, NCBI Gene:23464, OMIM:607422, RefSeq DNA:NT_011520, RefSeq Protein:NP_001165161, RefSeq Protein:NP_055106, RefSeq RNA:NM_001171690, RefSeq RNA:NM_014291, UCSC Genome Browser:NM_014291, UniProtKB:A8K228, UniProtKB:O75600, UniProtKB:Q6ZWF1 No chr22 38203906 38213183 37807893 37817177 +PA134912158 319140 HGNC:20013 ENSG00000270878 glycine C-acetyltransferase pseudogene 1 GCATP1 Yes No Ensembl:ENSG00000270878, HGNC:HGNC:20013, NCBI Gene:319140, RefSeq DNA:NG_002517, RefSeq DNA:NT_026437 No chr14 64060570 64062044 63593852 63595326 +PA38796 79571 HGNC:19095 ENSG00000179562 GRIP and coiled-coil domain containing 1 GCC1 FLJ22035, GCC1P, GCC88, MGC20706 Yes No Ensembl:ENSG00000179562, GenAtlas:GCC1, GeneCard:GCC1, HGNC:HGNC:19095, HumanCyc Gene:HS17306, ModBase:Q96CN9, NCBI Gene:79571, OMIM:607418, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_078799, RefSeq RNA:NM_024523, UCSC Genome Browser:NM_024523, UniProtKB:A4D0Z4, UniProtKB:Q96CN9 No chr7 127220682 127225654 127580628 127585600 +PA134876902 9648 HGNC:23218 ENSG00000135968 GRIP and coiled-coil domain containing 2 GCC2 GCC185, KIAA0336 Yes No Comparative Toxicogenomics Database:9648, Ensembl:ENSG00000135968, GeneCard:GCC2, HGNC:HGNC:23218, HumanCyc Gene:HS13602, NCBI Gene:9648, OMIM:612711, RefSeq DNA:NT_022171, RefSeq Protein:NP_055450, RefSeq Protein:NP_852118, RefSeq RNA:NM_001410194, RefSeq RNA:NM_014635, RefSeq RNA:NM_181453, UniProtKB:B3KR21, UniProtKB:Q8IWJ2 No chr2 109065577 109125854 108448561 108509398 +PA28604 2639 HGNC:4189 ENSG00000105607 glutaryl-CoA dehydrogenase GCDH ACAD5, GCD Yes No Comparative Toxicogenomics Database:2639, Ensembl:ENSG00000105607, GenAtlas:GCDH, GeneCard:GCDH, HGNC:HGNC:4189, HumanCyc Gene:HS02769, ModBase:Q92947, NCBI Gene:2639, OMIM:231670, OMIM:608801, RefSeq DNA:NG_009292, RefSeq DNA:NT_011295, RefSeq Protein:NP_000150, RefSeq Protein:NP_039663, RefSeq RNA:NM_000159, RefSeq RNA:NM_013976, UCSC Genome Browser:NM_000159, UniProtKB:Q92947 No chr19 13001943 13010813 12891129 12915345 +PA25892 6936 HGNC:1317 ENSG00000005436 GC-rich sequence DNA-binding factor 2 GCFC2 GC binding factor C2orf3, DNABF, GCF, TCF9 Yes No Ensembl:ENSG00000005436, GenAtlas:C2orf3, GeneCard:C2orf3, HGNC:HGNC:1317, HumanCyc Gene:HS00142, ModBase:P16383, NCBI Gene:6936, OMIM:189901, RefSeq DNA:NT_022184, RefSeq Protein:NP_001188263, RefSeq Protein:NP_001188264, RefSeq Protein:NP_003194, RefSeq RNA:NM_001201334, RefSeq RNA:NM_001201335, RefSeq RNA:NM_003203, UCSC Genome Browser:NM_003203, UniProtKB:P16383 No chr2 75889831 75938482 75662655 75710986 +PA28606 2641 HGNC:4191 ENSG00000115263 glucagon GCG glicentin-related polypeptide, glucagon-like peptide 1, glucagon-like peptide 2, preproglucagon GLP-1, GLP1, GLP2, GRPP Yes Yes Comparative Toxicogenomics Database:2641, Ensembl:ENSG00000115263, GenAtlas:GCG, GeneCard:GCG, HGNC:HGNC:4191, HumanCyc Gene:HS03859, ModBase:P01275, NCBI Gene:2641, OMIM:138030, RefSeq DNA:NT_005403, RefSeq Protein:NP_002045, RefSeq RNA:NM_002054, UCSC Genome Browser:NM_002054, UniProtKB:P01275 No chr2 162999379 163008914 162142869 162152404 +PA28607 2642 HGNC:4192 ENSG00000215644 glucagon receptor GCGR GGR Yes No Comparative Toxicogenomics Database:2642, Ensembl:ENSG00000215644, GenAtlas:GCGR, GeneCard:GCGR, HGNC:HGNC:4192, IUPHAR Receptor:251, ModBase:P47871, NCBI Gene:2642, OMIM:125853, OMIM:138033, RefSeq DNA:NG_016409, RefSeq DNA:NT_010663, RefSeq Protein:NP_000151, RefSeq RNA:NM_000160, UCSC Genome Browser:NM_000160, UniProtKB:P47871 No chr17 79762010 79771889 81804078 81814013 +PA28608 2643 HGNC:4193 ENSG00000131979 GTP cyclohydrolase 1 GCH1 GTP cyclohydrolase I, dopa-responsive dystonia DYT14, DYT5, DYT5a, GCH, GTPCH1 Yes Yes Comparative Toxicogenomics Database:2643, Ensembl:ENSG00000131979, GenAtlas:GCH1, GeneCard:GCH1, HGNC:HGNC:4193, HumanCyc Gene:HS05586, ModBase:P30793, NCBI Gene:2643, OMIM:128230, OMIM:233910, OMIM:600225, RefSeq DNA:NG_008647, RefSeq DNA:NT_026437, RefSeq Protein:NP_000152, RefSeq Protein:NP_001019195, RefSeq Protein:NP_001019241, RefSeq Protein:NP_001019242, RefSeq RNA:NM_000161, RefSeq RNA:NM_001024024, RefSeq RNA:NM_001024070, RefSeq RNA:NM_001024071, UCSC Genome Browser:NM_000161, UniProtKB:P30793, UniProtKB:Q8IZH9 No chr14 55308723 55369603 54842005 54902824 +PA28609 2644 HGNC:4194 ENSG00000137880 GTP cyclohydrolase I feedback regulator GCHFR GFRP, HsT16933 Yes No Comparative Toxicogenomics Database:2644, Ensembl:ENSG00000137880, GenAtlas:GCHFR, GeneCard:GCHFR, HGNC:HGNC:4194, HumanCyc Gene:HS06419, ModBase:P30047, NCBI Gene:2644, OMIM:602437, RefSeq DNA:NT_010194, RefSeq Protein:NP_005249, RefSeq RNA:NM_005258, UCSC Genome Browser:NM_005258, UniProtKB:P30047 No chr15 41056285 41059911 40764087 40767713 +PA28610 2645 HGNC:4195 ENSG00000106633 glucokinase GCK glucokinase (hexokinase 4), hexokinase 4 HK4, MODY2 Yes No Comparative Toxicogenomics Database:2645, Ensembl:ENSG00000106633, GenAtlas:GCK, GeneCard:GCK, HGNC:HGNC:4195, HumanCyc Gene:HS02935, ModBase:P35557, NCBI Gene:2645, OMIM:125851, OMIM:125853, OMIM:138079, OMIM:602485, OMIM:606176, OMIM:606391, RefSeq DNA:NG_008847, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000153, RefSeq Protein:NP_277042, RefSeq Protein:NP_277043, RefSeq RNA:NM_000162, RefSeq RNA:NM_033507, RefSeq RNA:NM_033508, UCSC Genome Browser:NM_000162, UniProtKB:P35557, UniProtKB:Q53Y25 No chr7 44183870 44229022 44143213 44189439 +PA28611 2646 HGNC:4196 ENSG00000084734 glucokinase regulator GCKR glucokinase (hexokinase 4) regulator, hexokinase 4 regulator Yes Yes Comparative Toxicogenomics Database:2646, Ensembl:ENSG00000084734, GenAtlas:GCKR, GeneCard:GCKR, HGNC:HGNC:4196, HumanCyc Gene:HS01480, ModBase:Q14397, NCBI Gene:2646, OMIM:600842, RefSeq DNA:NT_022184, RefSeq Protein:NP_001477, RefSeq RNA:NM_001486, UCSC Genome Browser:NM_001486, UniProtKB:Q14397 No chr2 27719470 27746556 27496839 27523689 +PA28612 2729 HGNC:4311 ENSG00000001084 glutamate-cysteine ligase catalytic subunit GCLC glutamate-cysteine ligase, catalytic subunit GCS, GLCL, GLCLC Yes Yes Comparative Toxicogenomics Database:2729, Ensembl:ENSG00000001084, GenAtlas:GCLC, GeneCard:GCLC, HGNC:HGNC:4311, HumanCyc Gene:HS00071, ModBase:P48506, NCBI Gene:2729, OMIM:230450, OMIM:606857, OMIM:608446, RefSeq DNA:NG_012071, RefSeq DNA:NT_007592, RefSeq Protein:NP_001184044, RefSeq Protein:NP_001489, RefSeq RNA:NM_001197115, RefSeq RNA:NM_001498, UCSC Genome Browser:NM_001498, UniProtKB:P48506, UniProtKB:Q14TF0 No chr6 53362139 53409927 53497341 53545129 +PA28613 2730 HGNC:4312 ENSG00000023909 glutamate-cysteine ligase modifier subunit GCLM """gamma-glutamylcysteine synthetase"", ""glutamate-cysteine ligase, modifier subunit""" GLCLR Yes No Comparative Toxicogenomics Database:2730, Ensembl:ENSG00000023909, GenAtlas:GCLM, GeneCard:GCLM, HGNC:HGNC:4312, HumanCyc Gene:HS00434, ModBase:P48507, NCBI Gene:2730, OMIM:601176, RefSeq DNA:NG_012072, RefSeq DNA:NT_032977, RefSeq Protein:NP_002052, RefSeq RNA:NM_002061, UCSC Genome Browser:NM_002061, UniProtKB:P48507 No chr1 94352590 94375154 93885199 93909598 +PA28614 8521 HGNC:4197 ENSG00000137270 glial cells missing transcription factor 1 GCM1 glial cells missing homolog 1 (Drosophila) GCMA, hGCMa Yes No Comparative Toxicogenomics Database:8521, Ensembl:ENSG00000137270, GeneCard:GCM1, HGNC:HGNC:4197, HumanCyc Gene:HS06301, ModBase:Q9NP62, NCBI Gene:8521, OMIM:603715, RefSeq DNA:NT_007592, RefSeq Protein:NP_003634, RefSeq RNA:NM_003643, UCSC Genome Browser:NM_003643, UniProtKB:Q9NP62 No chr6 52991759 53013624 53125644 53262803 +PA28615 9247 HGNC:4198 ENSG00000124827 glial cells missing transcription factor 2 GCM2 glial cells missing homolog 2 (Drosophila) GCMB, hGCMb Yes No Comparative Toxicogenomics Database:9247, Ensembl:ENSG00000124827, GeneCard:GCM2, HGNC:HGNC:4198, HumanCyc Gene:HS04842, ModBase:O75603, NCBI Gene:9247, OMIM:146200, OMIM:603716, RefSeq DNA:NG_008970, RefSeq DNA:NT_007592, RefSeq Protein:NP_004743, RefSeq RNA:NM_004752, UCSC Genome Browser:NM_004752, UniProtKB:O75603 No chr6 10873456 10882098 10873223 10881865 +PA28616 10985 HGNC:4199 ENSG00000089154 GCN1 activator of EIF2AK4 GCN1 """GCN1 general control of amino-acid synthesis 1-like 1 (yeast)"", ""GCN1, eIF2 alpha kinase activator homolog""" GCN1, GCN1L, GCN1L1, KIAA0219 Yes No Comparative Toxicogenomics Database:10985, Ensembl:ENSG00000089154, GenAtlas:GCN1L1, GeneCard:GCN1L1, HGNC:HGNC:4199, HumanCyc Gene:HS01637, ModBase:Q99736, NCBI Gene:10985, OMIM:605614, RefSeq DNA:NT_009775, RefSeq Protein:NP_006827, RefSeq RNA:NM_006836, UniProtKB:Q92616 No chr12 120565014 120632513 120127210 120194710 +PA24453 93953 HGNC:15805 ENSG00000147174 germ cell nuclear acidic peptidase GCNA acidic repeat containing ACRC, NAAR1 Yes No Ensembl:ENSG00000147174, GenAtlas:ACRC, GeneCard:ACRC, HGNC:HGNC:15805, HumanCyc Gene:HS07407, ModBase:Q96QF7, NCBI Gene:93953, OMIM:300369, RefSeq DNA:NT_011669, RefSeq Protein:NP_443189, RefSeq RNA:NM_052957, UCSC Genome Browser:NM_052957, UniProtKB:Q96QF7 No chrX 70797840 70833440 71578024 71613583 +PA168 2650 HGNC:4203 ENSG00000187210 glucosaminyl (N-acetyl) transferase 1 GCNT1 """beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"", ""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""glucosaminyl (N-acetyl) transferase 1, core 2""" C2GNT, NACGT2, NAGCT2 Yes No Comparative Toxicogenomics Database:2650, Ensembl:ENSG00000187210, GenAtlas:GCNT1, GeneCard:GCNT1, HGNC:HGNC:4203, HumanCyc Gene:HS05939, ModBase:Q02742, NCBI Gene:2650, OMIM:600391, RefSeq DNA:NT_008470, RefSeq Protein:NP_001091102, RefSeq Protein:NP_001091103, RefSeq Protein:NP_001091104, RefSeq Protein:NP_001091105, RefSeq Protein:NP_001481, RefSeq RNA:NM_001097633, RefSeq RNA:NM_001097634, RefSeq RNA:NM_001097635, RefSeq RNA:NM_001097636, RefSeq RNA:NM_001490, UCSC Genome Browser:NM_001490, UniProtKB:Q02742, UniProtKB:Q86T81 No chr9 79034752 79122332 76441666 76507416 +PA28619 170517 HGNC:16532 ENSG00000236474 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 1 GCNT1P1 bA189K21.2 Yes No Ensembl:ENSG00000236474, GenAtlas:GCNT1P, GeneCard:GCNT1P1, HGNC:HGNC:16532, NCBI Gene:170517, RefSeq DNA:NG_001039, RefSeq DNA:NT_011387 No chr20 18400621 18402272 18419977 18421628 +PA169 2651 HGNC:4204 ENSG00000111846 glucosaminyl (N-acetyl) transferase 2 (I blood group) GCNT2 """Ii blood group"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)"", ""unassigned linkage group 3""" CCAT, GCNT5, IGNT, II, NACGT1, NAGCT1, ULG3, bA360O19.2, bA421M1.1 Yes No Comparative Toxicogenomics Database:2651, Ensembl:ENSG00000111846, GenAtlas:GCNT2, GeneCard:GCNT2, HGNC:HGNC:4204, HumanCyc Gene:HS03475, ModBase:Q06430, NCBI Gene:2651, OMIM:110800, OMIM:212500, OMIM:600429, RefSeq DNA:NG_007469, RefSeq DNA:NT_007592, RefSeq Protein:NP_001482, RefSeq Protein:NP_663624, RefSeq Protein:NP_663630, RefSeq RNA:NM_001491, RefSeq RNA:NM_145649, RefSeq RNA:NM_145655, UCSC Genome Browser:NM_001491, UniProtKB:Q06430, UniProtKB:Q08M29, UniProtKB:Q8N0V5, UniProtKB:Q8NFS9 No chr6 10521542 10629601 10521283 10629368 +PA28620 9245 HGNC:4205 ENSG00000140297 glucosaminyl (N-acetyl) transferase 3, mucin type GCNT3 C2/4GnT, C2GnT-M, C2GnT2 Yes No Comparative Toxicogenomics Database:9245, Ensembl:ENSG00000140297, GenAtlas:GCNT3, GeneCard:GCNT3, HGNC:HGNC:4205, HumanCyc Gene:HS06698, ModBase:O95395, NCBI Gene:9245, OMIM:606836, RefSeq DNA:NT_010194, RefSeq Protein:NP_004742, RefSeq RNA:NM_004751, UCSC Genome Browser:NM_004751, UniProtKB:O95395 No chr15 59903982 59912210 59611783 59620011 +PA143485475 51301 HGNC:17973 ENSG00000176928 glucosaminyl (N-acetyl) transferase 4 GCNT4 """beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"", ""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""glucosaminyl (N-acetyl) transferase 4, core 2""" C2GNT3, LINC01336 Yes No Ensembl:ENSG00000176928, GeneCard:GCNT4, HGNC:HGNC:17973, HumanCyc Gene:HS11108, ModBase:Q9P109, NCBI Gene:51301, RefSeq DNA:NT_006713, RefSeq Protein:NP_057675, RefSeq RNA:NM_016591, UniProtKB:Q9P109 No chr5 74323246 74350743 75027464 75030899 +PA162389279 140687 HGNC:16099 ENSG00000124091 glucosaminyl (N-acetyl) transferase family member 7 GCNT7 C20orf105, dJ1153D9.2 Yes No Ensembl:ENSG00000124091, GeneCard:GCNT7, HGNC:HGNC:16099, HumanCyc Gene:HS04710, ModBase:Q6ZNI0, NCBI Gene:140687, RefSeq DNA:NT_011362, RefSeq Protein:NP_542182, RefSeq RNA:NM_080615, UniProtKB:Q6ZNI0 No chr20 55066548 55100981 56491492 56525925 +PA162389298 145781 HGNC:26424 ENSG00000137878, ENSG00000263155 GRINL1A complex locus 1 GCOM1 MYZAP-POLR2M readthrough FLJ30973, GRINL1A, MYZAP-POLR2M Yes No Ensembl:ENSG00000137878, Ensembl:ENSG00000263155, GeneCard:GCOM1, HGNC:HGNC:26424, NCBI Gene:145781, RefSeq DNA:NT_010194, RefSeq Protein:NP_001018100, RefSeq Protein:NP_001018101, RefSeq Protein:NP_001018110, RefSeq Protein:NP_689664, RefSeq RNA:NM_001018090, RefSeq RNA:NM_001018091, RefSeq RNA:NM_001018100, RefSeq RNA:NM_152451 No chr15 57884102 58009755 57591904 57717557 +PA134980592 257144 HGNC:20253 ENSG00000174500 germinal center associated signaling and motility GCSAM """germinal center-associated, signaling and motility"", ""human germinal center-associated lymphoma""" GCET2, HGAL, MGC40441 Yes No Comparative Toxicogenomics Database:257144, Ensembl:ENSG00000174500, GeneCard:GCET2, HGNC:HGNC:20253, HumanCyc Gene:HS16353, NCBI Gene:257144, OMIM:607792, RefSeq DNA:NT_005612, RefSeq Protein:NP_001008756, RefSeq Protein:NP_001177188, RefSeq Protein:NP_001177189, RefSeq Protein:NP_689998, RefSeq RNA:NM_001008756, RefSeq RNA:NM_001190259, RefSeq RNA:NM_001190260, RefSeq RNA:NM_152785, UniProtKB:C9JUG6, UniProtKB:Q8N6F7 No chr3 111839688 111852453 112120841 112133305 +PA142672467 148823 HGNC:29583 ENSG00000169224 germinal center associated signaling and motility like GCSAML germinal center-associated, signaling and motility-like C1orf150, FLJ44728 Yes No Ensembl:ENSG00000169224, GeneCard:C1orf150, HGNC:HGNC:29583, HumanCyc Gene:HS15761, NCBI Gene:148823, RefSeq DNA:NT_167186, RefSeq Protein:NP_660321, RefSeq RNA:NM_145278, UniProtKB:Q5JQS6 No chr1 247670417 247740990 247507058 247577690 +PA28621 2653 HGNC:4208 ENSG00000140905 glycine cleavage system protein H GCSH glycine cleavage system protein H (aminomethyl carrier), lipoic acid-containing protein Yes No Comparative Toxicogenomics Database:2653, Ensembl:ENSG00000140905, GenAtlas:GCSH, GeneCard:GCSH, HGNC:HGNC:4208, HumanCyc Gene:HS06771, ModBase:P23434, NCBI Gene:2653, OMIM:238330, OMIM:605899, RefSeq DNA:NG_016427, RefSeq DNA:NT_010498, RefSeq Protein:NP_004474, RefSeq RNA:NM_004483, RefSeq RNA:NR_033249, UCSC Genome Browser:NM_004483 No chr16 81115552 81129980 81081947 81096375 +PA28625 9615 HGNC:4212 ENSG00000119125 guanine deaminase GDA cytoplasmic PSD-95 interactor, guanase, guanine aminohydrolase, nedasin CYPIN, GAH Yes No Comparative Toxicogenomics Database:9615, Ensembl:ENSG00000119125, GenAtlas:GDA, GeneCard:GDA, HGNC:HGNC:4212, HumanCyc Gene:HS04276, ModBase:Q9Y2T3, NCBI Gene:9615, OMIM:139260, RefSeq DNA:NT_008470, RefSeq Protein:NP_001229434, RefSeq Protein:NP_001229435, RefSeq Protein:NP_001229436, RefSeq Protein:NP_004284, RefSeq RNA:NM_001242505, RefSeq RNA:NM_001242506, RefSeq RNA:NM_001242507, RefSeq RNA:NM_004293, UCSC Genome Browser:NM_004293, UniProtKB:Q9Y2T3 No chr9 74729511 74867140 72114595 72256045 +PA28626 54332 HGNC:15968 ENSG00000104381 ganglioside induced differentiation associated protein 1 GDAP1 CMT2K, CMT4, CMT4A Yes No Comparative Toxicogenomics Database:54332, Ensembl:ENSG00000104381, GenAtlas:GDAP1, GeneCard:GDAP1, HGNC:HGNC:15968, HumanCyc Gene:HS02576, ModBase:Q8TB36, NCBI Gene:54332, OMIM:214400, OMIM:606598, OMIM:607706, OMIM:607831, OMIM:608340, RefSeq DNA:NG_008787, RefSeq DNA:NT_008183, RefSeq Protein:NP_001035808, RefSeq Protein:NP_061845, RefSeq RNA:NM_001040875, RefSeq RNA:NM_018972, UCSC Genome Browser:NM_018972, UniProtKB:Q8TB36 No chr8 75262618 75279345 74349251 74488867 +PA28627 78997 HGNC:4213 ENSG00000124194 ganglioside induced differentiation associated protein 1 like 1 GDAP1L1 ganglioside induced differentiation associated protein 1-like 1 Yes No Comparative Toxicogenomics Database:78997, Ensembl:ENSG00000124194, GenAtlas:GDAP1L1, GeneCard:GDAP1L1, HGNC:HGNC:4213, HumanCyc Gene:HS13113, ModBase:Q96MZ0, NCBI Gene:78997, RefSeq DNA:NT_011362, RefSeq Protein:NP_076939, RefSeq RNA:NM_024034, UCSC Genome Browser:NM_024034, UniProtKB:Q96MZ0 No chr20 42875739 42909557 44247099 44280917 +PA28628 54834 HGNC:18010 ENSG00000196505 ganglioside induced differentiation associated protein 2 GDAP2 FLJ20142, MACROD3, dJ776P7.1 Yes No Comparative Toxicogenomics Database:54834, Ensembl:ENSG00000196505, GenAtlas:GDAP2, GeneCard:GDAP2, HGNC:HGNC:18010, ModBase:Q9NXN4, NCBI Gene:54834, RefSeq DNA:NT_032977, RefSeq Protein:NP_001129061, RefSeq Protein:NP_060156, RefSeq RNA:NM_001135589, RefSeq RNA:NM_017686, UCSC Genome Browser:NM_017686, UniProtKB:Q9NXN4 No chr1 118406107 118472302 117860227 117930042 +PA162389327 51573 HGNC:29644 ENSG00000006007 glycerophosphodiester phosphodiesterase 1 GDE1 membrane interacting protein of RGS16 MIR16 Yes No Comparative Toxicogenomics Database:51573, Ensembl:ENSG00000006007, GeneCard:GDE1, HGNC:HGNC:29644, HumanCyc Gene:HS00157, ModBase:Q9NZC3, NCBI Gene:51573, OMIM:605943, RefSeq DNA:NT_010393, RefSeq Protein:NP_057725, RefSeq RNA:NM_016641, UCSC Genome Browser:NM_016641, UniProtKB:Q9NZC3 No chr16 19513015 19533450 19501693 19522145 +PA28629 2657 HGNC:4214 ENSG00000130283 growth differentiation factor 1 GDF1 Yes No Comparative Toxicogenomics Database:2657, Ensembl:ENSG00000130283, GenAtlas:GDF1, GeneCard:GDF1, HGNC:HGNC:4214, ModBase:P27539, NCBI Gene:2657, OMIM:187500, OMIM:217095, OMIM:602880, RefSeq DNA:NG_003110, RefSeq DNA:NG_012070, RefSeq DNA:NT_011295, RefSeq Protein:NP_001483, RefSeq RNA:NM_001492, UCSC Genome Browser:NM_001492, UniProtKB:P27539 No chr19 18979361 19006953 18868546 18896144 +PA28630 2662 HGNC:4215 ENSG00000266524 growth differentiation factor 10 GDF10 BMP-3b Yes No Comparative Toxicogenomics Database:2662, Ensembl:ENSG00000266524, GenAtlas:GDF10, GeneCard:GDF10, HGNC:HGNC:4215, HumanCyc Gene:HS03013, ModBase:P55107, NCBI Gene:2662, OMIM:601361, RefSeq DNA:NT_030772, RefSeq Protein:NP_004953, RefSeq RNA:NM_004962, UCSC Genome Browser:NM_004962, UniProtKB:P55107 No chr10 48425785 48439138 47300224 47313577 +PA28631 10220 HGNC:4216 ENSG00000135414 growth differentiation factor 11 GDF11 BMP-11, BMP11 Yes No Comparative Toxicogenomics Database:10220, Ensembl:ENSG00000135414, GenAtlas:GDF11, GeneCard:GDF11, HGNC:HGNC:4216, HumanCyc Gene:HS06000, ModBase:O95390, NCBI Gene:10220, OMIM:603936, RefSeq DNA:NT_029419, RefSeq Protein:NP_005802, RefSeq RNA:NM_005811, UCSC Genome Browser:NM_005811, UniProtKB:O95390 No chr12 56137064 56146665 55743278 55757194 +PA134866647 9518 HGNC:30142 ENSG00000130513 growth differentiation factor 15 GDF15 macrophage inhibitory cytokine-1, non-steroidal anti-inflammatory drug-activated gene-1, prostate differentiation factor MIC-1, MIC1, NAG-1, PDF, PLAB, PTGFB Yes No Comparative Toxicogenomics Database:9518, Ensembl:ENSG00000130513, GeneCard:GDF15, HGNC:HGNC:30142, HumanCyc Gene:HS05393, NCBI Gene:9518, OMIM:605312, RefSeq DNA:NT_011295, RefSeq Protein:NP_004855, RefSeq RNA:NM_004864, UniProtKB:Q99988 No chr19 18496968 18499986 18386158 18389176 +PA28632 2658 HGNC:4217 ENSG00000263761 growth differentiation factor 2 GDF2 BMP-9, BMP9 Yes No Comparative Toxicogenomics Database:2658, Ensembl:ENSG00000263761, GenAtlas:GDF2, GeneCard:GDF2, HGNC:HGNC:4217, HumanCyc Gene:HS05224, ModBase:Q9UK05, NCBI Gene:2658, OMIM:605120, RefSeq DNA:NT_030772, RefSeq Protein:NP_057288, RefSeq RNA:NM_016204, UCSC Genome Browser:NM_016204, UniProtKB:Q9UK05 No chr10 48413092 48416853 47322490 47326270 +PA28633 9573 HGNC:4218 ENSG00000184344 growth differentiation factor 3 GDF3 Yes No Comparative Toxicogenomics Database:9573, Ensembl:ENSG00000184344, GenAtlas:GDF3, GeneCard:GDF3, HGNC:HGNC:4218, ModBase:Q9NR23, NCBI Gene:9573, OMIM:606522, RefSeq DNA:NT_009714, RefSeq Protein:NP_065685, RefSeq RNA:NM_020634, UCSC Genome Browser:NM_020634, UniProtKB:Q9NR23 No chr12 7842381 7848360 7689785 7695764 +PA28635 8200 HGNC:4220 ENSG00000125965 growth differentiation factor 5 GDF5 cartilage-derived morphogenetic protein-1 BMP14, CDMP1 Yes No Comparative Toxicogenomics Database:8200, Ensembl:ENSG00000125965, GenAtlas:GDF5, GeneCard:GDF5, HGNC:HGNC:4220, HumanCyc Gene:HS04977, ModBase:P43026, NCBI Gene:8200, OMIM:112600, OMIM:113100, OMIM:185800, OMIM:200700, OMIM:201250, OMIM:228900, OMIM:601146, OMIM:610017, OMIM:612400, RefSeq DNA:NG_008076, RefSeq DNA:NT_011362, RefSeq Protein:NP_000548, RefSeq RNA:NM_000557, UCSC Genome Browser:NM_000557, UniProtKB:P43026 No chr20 34021149 34026027 35433347 35454746 +PA28636 392255 HGNC:4221 ENSG00000156466 growth differentiation factor 6 GDF6 BMP13, KFM, KFS, KFS1, SGM1 Yes No Comparative Toxicogenomics Database:392255, Ensembl:ENSG00000156466, GenAtlas:GDF6, GeneCard:GDF6, HGNC:HGNC:4221, ModBase:Q6KF10, NCBI Gene:392255, OMIM:118100, OMIM:120200, OMIM:122600, OMIM:601147, OMIM:613094, RefSeq DNA:NG_008981, RefSeq DNA:NT_008046, RefSeq Protein:NP_001001557, RefSeq RNA:NM_001001557, UniProtKB:Q6KF10 No chr8 97154558 97173020 96142330 96160792 +PA28637 151449 HGNC:4222 ENSG00000143869 growth differentiation factor 7 GDF7 BMP12 Yes No Ensembl:ENSG00000143869, GenAtlas:GDF7, GeneCard:GDF7, HGNC:HGNC:4222, ModBase:Q7Z4P5, NCBI Gene:151449, OMIM:604651, RefSeq DNA:NT_015926, RefSeq Protein:NP_878248, RefSeq RNA:NM_182828, UCSC Genome Browser:NM_182828, UniProtKB:Q75RY1, UniProtKB:Q7Z4P5 No chr2 20866424 20871250 20666664 20671490 +PA28639 2661 HGNC:4224 ENSG00000164404 growth differentiation factor 9 GDF9 Yes No Comparative Toxicogenomics Database:2661, Ensembl:ENSG00000164404, GenAtlas:GDF9, GeneCard:GDF9, HGNC:HGNC:4224, HumanCyc Gene:HS09076, ModBase:O60383, NCBI Gene:2661, OMIM:601918, RefSeq DNA:NT_034772, RefSeq Protein:NP_005251, RefSeq RNA:NM_005260, UCSC Genome Browser:NM_005260, UniProtKB:O60383 No chr5 132196877 132202238 132861181 132866884 +PA28641 2664 HGNC:4226 ENSG00000203879 GDP dissociation inhibitor 1 GDI1 """mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""oligophrenin-2"", ""rab GDP-dissociation inhibitor, alpha""" FLJ41411, GDIL, MRX41, MRX48, OPHN2, RABGDIA, XAP-4 Yes No Comparative Toxicogenomics Database:2664, Ensembl:ENSG00000203879, GenAtlas:GDI1, GeneCard:GDI1, HGNC:HGNC:4226, ModBase:P31150, NCBI Gene:2664, OMIM:300104, OMIM:309541, RefSeq DNA:NG_008954, RefSeq DNA:NT_167198, RefSeq Protein:NP_001484, RefSeq RNA:NM_001493, UCSC Genome Browser:NM_001493, UniProtKB:P31150 No chrX 153665259 153671814 154436913 154443467 +PA28642 2665 HGNC:4227 ENSG00000057608 GDP dissociation inhibitor 2 GDI2 rab GDP-dissociation RABGDIB Yes No Comparative Toxicogenomics Database:2665, Ensembl:ENSG00000057608, GenAtlas:GDI2, GeneCard:GDI2, HGNC:HGNC:4227, HumanCyc Gene:HS00710, ModBase:P50395, NCBI Gene:2665, OMIM:600767, RefSeq DNA:NT_008705, RefSeq Protein:NP_001108628, RefSeq Protein:NP_001485, RefSeq RNA:NM_001115156, RefSeq RNA:NM_001494, UCSC Genome Browser:NM_001494, UniProtKB:P50395, UniProtKB:Q5SX88, UniProtKB:Q6IAT1 No chr10 5807186 5855512 5765222 5813549 +PA28643 2667 HGNC:4228 ENSG00000229165 GDP dissociation inhibitor 2 pseudogene 1 GDI2P1 rab GDP-dissociation Yes No Ensembl:ENSG00000229165, GenAtlas:GDI2P, GeneCard:GDI2P1, HGNC:HGNC:4228, NCBI Gene:2667, RefSeq DNA:NG_001124, RefSeq DNA:NT_007819, RefSeq DNA:NT_030008, RefSeq DNA:NT_079592 No chr7 48941352 48943599 48901756 48904003 +PA28644 2668 HGNC:4232 ENSG00000168621 glial cell derived neurotrophic factor GDNF astrocyte-derived trophic factor, glial cell line derived neurotrophic factor, glial derived neurotrophic factor ATF1, ATF2, HFB1-GDNF Yes Yes Comparative Toxicogenomics Database:2668, Ensembl:ENSG00000168621, GenAtlas:GDNF, GeneCard:GDNF, HGNC:HGNC:4232, HumanCyc Gene:HS09795, ModBase:Q9UMV2, NCBI Gene:2668, OMIM:142623, OMIM:171300, OMIM:209880, OMIM:600837, RefSeq DNA:NG_011675, RefSeq DNA:NT_006576, RefSeq Protein:NP_000505, RefSeq Protein:NP_001177397, RefSeq Protein:NP_001177398, RefSeq Protein:NP_954701, RefSeq Protein:NP_954704, RefSeq RNA:NM_000514, RefSeq RNA:NM_001190468, RefSeq RNA:NM_001190469, RefSeq RNA:NM_199231, RefSeq RNA:NM_199234, UCSC Genome Browser:NM_000514, UniProtKB:P39905 No chr5 37812779 37839782 37812677 37840044 +PA134879258 284161 HGNC:20883 ENSG00000153982 glycerophosphodiester phosphodiesterase domain containing 1 GDPD1 FLJ37451, GDE4 Yes No Comparative Toxicogenomics Database:284161, Ensembl:ENSG00000153982, GeneCard:GDPD1, HGNC:HGNC:20883, ModBase:Q8N9F7, NCBI Gene:284161, RefSeq DNA:NT_010783, RefSeq Protein:NP_001159465, RefSeq Protein:NP_001159466, RefSeq Protein:NP_872375, RefSeq RNA:NM_001165993, RefSeq RNA:NM_001165994, RefSeq RNA:NM_182569, UniProtKB:Q8N9F7 No chr17 57297828 57353331 59220467 59275970 +PA134907263 54857 HGNC:25974 ENSG00000130055 glycerophosphodiester phosphodiesterase domain containing 2 GDPD2 osteoblast differentiation promoting factor FLJ20207, GDE3, OBDPF Yes No Ensembl:ENSG00000130055, GeneCard:GDPD2, HGNC:HGNC:25974, HumanCyc Gene:HS05338, ModBase:Q9HCC8, NCBI Gene:54857, RefSeq DNA:NG_016413, RefSeq DNA:NT_011669, RefSeq Protein:NP_001164662, RefSeq Protein:NP_001164663, RefSeq Protein:NP_001164664, RefSeq Protein:NP_060181, RefSeq RNA:NM_001171191, RefSeq RNA:NM_001171192, RefSeq RNA:NM_001171193, RefSeq RNA:NM_017711, UniProtKB:B4DRH4, UniProtKB:B4DVC9, UniProtKB:Q9HCC8 No chrX 69642881 69653241 70423031 70433391 +PA142671741 79153 HGNC:28638 ENSG00000102886 glycerophosphodiester phosphodiesterase domain containing 3 GDPD3 MGC4171 Yes No Comparative Toxicogenomics Database:79153, Ensembl:ENSG00000102886, GeneCard:GDPD3, HGNC:HGNC:28638, HumanCyc Gene:HS02422, ModBase:Q7L5L3, NCBI Gene:79153, RefSeq DNA:NT_010393, RefSeq Protein:NP_077283, RefSeq RNA:NM_024307, UniProtKB:Q7L5L3 No chr16 30115977 30125264 30104810 30113557 +PA142671742 220032 HGNC:24849 ENSG00000178795 glycerophosphodiester phosphodiesterase domain containing 4 GDPD4 GDE6 Yes No Ensembl:ENSG00000178795, GeneCard:GDPD4, HGNC:HGNC:24849, ModBase:Q6W3E5, NCBI Gene:220032, RefSeq DNA:NT_167190, RefSeq Protein:NP_878253, RefSeq RNA:NM_182833, UniProtKB:Q6W3E5 No chr11 76927603 77012699 77216558 77301699 +PA142671743 81544 HGNC:28804 ENSG00000158555 glycerophosphodiester phosphodiesterase domain containing 5 GDPD5 GDE2, PP1665 Yes No Comparative Toxicogenomics Database:81544, Ensembl:ENSG00000158555, GeneCard:GDPD5, HGNC:HGNC:28804, HumanCyc Gene:HS08308, ModBase:Q8WTR4, NCBI Gene:81544, OMIM:609632, RefSeq DNA:NT_167190, RefSeq Protein:NP_110419, RefSeq RNA:NM_030792, UniProtKB:Q8WTR4 No chr11 75145683 75236991 75434640 75525916 +PA162378247 390637 HGNC:34360 ENSG00000183208 GDP-D-glucose phosphorylase 1 GDPGP1 C15orf58 Yes No Ensembl:ENSG00000183208, GeneCard:C15orf58, HGNC:HGNC:34360, ModBase:Q6ZNW5, NCBI Gene:390637, RefSeq DNA:NT_010274, RefSeq Protein:NP_001013679, RefSeq RNA:NM_001013657, UniProtKB:Q6ZNW5 No chr15 90777487 90785312 90234255 90242080 +PA28645 2669 HGNC:4234 ENSG00000164949 GTP binding protein overexpressed in skeletal muscle GEM kinase-inducible Ras-like protein KIR Yes No Comparative Toxicogenomics Database:2669, Ensembl:ENSG00000164949, GenAtlas:GEM, GeneCard:GEM, HGNC:HGNC:4234, HumanCyc Gene:HS09166, ModBase:P55040, NCBI Gene:2669, OMIM:600164, RefSeq DNA:NT_008046, RefSeq Protein:NP_005252, RefSeq Protein:NP_859053, RefSeq RNA:NM_005261, RefSeq RNA:NM_181702, UCSC Genome Browser:NM_005261, UniProtKB:P55040 No chr8 95261481 95274547 94249249 94262345 +PA35784 8487 HGNC:10884 ENSG00000092208 gem nuclear organelle associated protein 2 GEMIN2 gem (nuclear organelle) associated protein 2 SIP1 Yes No Comparative Toxicogenomics Database:8487, Ensembl:ENSG00000092208, GenAtlas:SIP1, GeneCard:SIP1, HGNC:HGNC:10884, HumanCyc Gene:HS01765, ModBase:O14893, NCBI Gene:8487, OMIM:602595, RefSeq DNA:NG_016643, RefSeq DNA:NT_026437, RefSeq Protein:NP_001009182, RefSeq Protein:NP_001009183, RefSeq Protein:NP_003607, RefSeq RNA:NM_001009182, RefSeq RNA:NM_001009183, RefSeq RNA:NM_003616, UCSC Genome Browser:NM_003616, UniProtKB:O14893 No chr14 39583488 39606177 39114261 39136973 +PA28646 50628 HGNC:15717 ENSG00000179409 gem nuclear organelle associated protein 4 GEMIN4 HCC-associated protein 1, component of gems 4, gem (nuclear organelle) associated protein 4 DKFZP434B131, DKFZP434D174, HC56, HCAP1, HHRF-1, p97 Yes Yes Ensembl:ENSG00000179409, GenAtlas:GEMIN4, GeneCard:GEMIN4, HGNC:HGNC:15717, HumanCyc Gene:HS11378, NCBI Gene:50628, OMIM:606969, RefSeq DNA:NT_010718, RefSeq Protein:NP_056536, RefSeq RNA:NM_015721, UCSC Genome Browser:NM_015721, UniProtKB:Q8WUM5 No chr17 647661 656038 744421 752868 +PA134945791 25929 HGNC:20043 ENSG00000082516 gem nuclear organelle associated protein 5 GEMIN5 gem (nuclear organelle) associated protein 5 Yes No Ensembl:ENSG00000082516, GeneCard:GEMIN5, HGNC:HGNC:20043, HumanCyc Gene:HS12271, ModBase:Q8TEQ6, NCBI Gene:25929, OMIM:607005, RefSeq DNA:NT_029289, RefSeq Protein:NP_056280, RefSeq RNA:NM_015465, UniProtKB:Q58EZ8, UniProtKB:Q8TEQ6 No chr5 154266976 154317776 154887416 154938216 +PA134952855 79833 HGNC:20044 ENSG00000152147 gem nuclear organelle associated protein 6 GEMIN6 gem (nuclear organelle) associated protein 6 FLJ23459 Yes No Comparative Toxicogenomics Database:79833, Ensembl:ENSG00000152147, GeneCard:GEMIN6, HGNC:HGNC:20044, HumanCyc Gene:HS14412, NCBI Gene:79833, OMIM:607006, RefSeq DNA:NT_022184, RefSeq Protein:NP_079051, RefSeq RNA:NM_024775, UniProtKB:Q8WXD5 No chr2 39005327 39009598 38778185 38781965 +PA134959810 79760 HGNC:20045 ENSG00000142252 gem nuclear organelle associated protein 7 GEMIN7 gem (nuclear organelle) associated protein 7 FLJ13956 Yes No Comparative Toxicogenomics Database:79760, Ensembl:ENSG00000142252, GeneCard:GEMIN7, HGNC:HGNC:20045, HumanCyc Gene:HS13921, NCBI Gene:79760, OMIM:607419, RefSeq DNA:NT_011109, RefSeq Protein:NP_001007270, RefSeq Protein:NP_001007271, RefSeq Protein:NP_078983, RefSeq RNA:NM_001007269, RefSeq RNA:NM_001007270, RefSeq RNA:NM_024707, UniProtKB:Q9H840 No chr19 45579024 45594782 45075728 45091524 +PA162389344 54960 HGNC:26044 ENSG00000046647 gem nuclear organelle associated protein 8 GEMIN8 gem (nuclear organelle) associated protein 8 FAM51A1, FLJ20514 Yes No Ensembl:ENSG00000046647, GeneCard:GEMIN8, HGNC:HGNC:26044, HumanCyc Gene:HS12101, ModBase:Q9NWZ8, NCBI Gene:54960, RefSeq DNA:NG_021285, RefSeq DNA:NT_167197, RefSeq Protein:NP_001035944, RefSeq Protein:NP_001035945, RefSeq Protein:NP_060326, RefSeq RNA:NM_001042479, RefSeq RNA:NM_001042480, RefSeq RNA:NM_017856, UniProtKB:Q9NWZ8 No chrX 14024845 14048035 14002494 14030087 +PA162389359 348654 HGNC:26881 ENSG00000178295 GEN1 Holliday junction 5' flap endonuclease GEN1 """GEN1 Holliday junction 5' flap endonuclease"", ""GEN1, Holliday junction 5' flap endonuclease"", ""Gen endonuclease homolog 1 (Drosophila)"", ""Holliday junction resolvase""" FLJ40869, Gen Yes No Ensembl:ENSG00000178295, GeneCard:GEN1, HGNC:HGNC:26881, NCBI Gene:348654, OMIM:612449, RefSeq DNA:NT_015926, RefSeq Protein:NP_001123481, RefSeq Protein:NP_872431, RefSeq RNA:NM_001130009, RefSeq RNA:NM_182625, UniProtKB:Q17RS7 No chr2 17935152 17966632 17753687 17785920 +PA166351819 7485 HGNC:12790 guided entry of tail-anchored proteins factor 1 GET1 CHD5, WRB Yes No HGNC:HGNC:12790, NCBI Gene:7485 No 0 0 0 0 +PA25051 439 HGNC:752 guided entry of tail-anchored proteins factor 3, ATPase GET3 """arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)"", ""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa""" ARSA-I, ASNA1, GET3, TRC40 Yes No Comparative Toxicogenomics Database:439, GenAtlas:ASNA1, GeneCard:ASNA1, HGNC:HGNC:752, HumanCyc Gene:HS02764, ModBase:O43681, NCBI Gene:439, OMIM:601913, RefSeq DNA:NT_011295, RefSeq Protein:NP_004308, RefSeq RNA:NM_004317, UCSC Genome Browser:NM_004317, UniProtKB:O43681 No chr19 12848306 12859137 12737492 12748323 +PA165618100 51608 HGNC:21690 ENSG00000239857 guided entry of tail-anchored proteins factor 4 GET4 """CGI-20 protein"", ""conserved edge protein"", ""golgi to ER traffic protein 4"", ""golgi to ER traffic protein 4 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 35kDa""" C7orf20, CEE, CGI-20, H_NH1244M04.5, TRC35 Yes No Ensembl:ENSG00000239857, GeneCard:GET4, HGNC:HGNC:21690, ModBase:Q7L5D6, NCBI Gene:51608, OMIM:612056, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_057033, RefSeq RNA:NM_015949, UniProtKB:Q7L5D6 No chr7 916191 936073 876554 896434 +PA28647 2670 HGNC:4235 ENSG00000131095 glial fibrillary acidic protein GFAP intermediate filament protein FLJ45472 Yes No Comparative Toxicogenomics Database:2670, Ensembl:ENSG00000131095, GenAtlas:GFAP, GeneCard:GFAP, HGNC:HGNC:4235, HumanCyc Gene:HS05487, ModBase:Q9UFD0, NCBI Gene:2670, OMIM:137780, OMIM:203450, RefSeq DNA:NG_008401, RefSeq DNA:NT_010783, RefSeq Protein:NP_001124491, RefSeq Protein:NP_001229305, RefSeq Protein:NP_002046, RefSeq RNA:NM_001131019, RefSeq RNA:NM_001242376, RefSeq RNA:NM_002055, UCSC Genome Browser:NM_002055, UniProtKB:P14136 No chr17 42982994 42992920 44905626 44915552 +PA28648 2671 HGNC:4236 ENSG00000127554 growth factor, augmenter of liver regeneration GFER ERV1 homolog (S. cerevisiae), FAD-linked sulfhydryl oxidase ALR, hepatic regenerative stimulation substance ALR, ERV1, HERV1, HPO1, HPO2, HSS Yes No Comparative Toxicogenomics Database:2671, Ensembl:ENSG00000127554, GenAtlas:GFER, GeneCard:GFER, HGNC:HGNC:4236, HumanCyc Gene:HS05112, ModBase:P55789, NCBI Gene:2671, OMIM:600924, OMIM:613076, RefSeq DNA:NG_016288, RefSeq DNA:NT_010393, RefSeq Protein:NP_005253, RefSeq RNA:NM_005262, UCSC Genome Browser:NM_005262, UniProtKB:P55789 No chr16 2034150 2037750 1984149 1987749 +PA24344 2672 HGNC:4237 ENSG00000162676 growth factor independent 1 transcriptional repressor GFI1 growth factor independent 1 transcription repressor GFI-1, GFI1A, ZNF163 Yes No Comparative Toxicogenomics Database:2672, Ensembl:ENSG00000162676, GenAtlas:GFI1, GeneCard:GFI1, HGNC:HGNC:4237, HumanCyc Gene:HS08715, ModBase:Q99684, NCBI Gene:2672, OMIM:202700, OMIM:600871, OMIM:607847, OMIM:613107, RefSeq DNA:NG_007874, RefSeq DNA:NT_032977, RefSeq Protein:NP_001120687, RefSeq Protein:NP_001120688, RefSeq Protein:NP_005254, RefSeq RNA:NM_001127215, RefSeq RNA:NM_001127216, RefSeq RNA:NM_005263, UCSC Genome Browser:NM_005263, UniProtKB:B3KVN4, UniProtKB:Q99684 No chr1 92940318 92952433 92473043 92486876 +PA28649 8328 HGNC:4238 ENSG00000165702 growth factor independent 1B transcriptional repressor GFI1B growth factor independent 1B transcription repressor ZNF163B Yes No Comparative Toxicogenomics Database:8328, Ensembl:ENSG00000165702, GenAtlas:GFI1B, GeneCard:GFI1B, HGNC:HGNC:4238, HumanCyc Gene:HS09274, ModBase:Q5VTD9, NCBI Gene:8328, OMIM:604383, RefSeq DNA:NT_035014, RefSeq Protein:NP_001128503, RefSeq Protein:NP_004179, RefSeq RNA:NM_001135031, RefSeq RNA:NM_004188, UCSC Genome Browser:NM_004188, UniProtKB:Q5VTD9 No chr9 135820888 135867084 132945545 132991697 +PA134971637 85476 HGNC:13780 ENSG00000168827 G elongation factor mitochondrial 1 GFM1 G elongation factor, mitochondrial 1 EFGM, EGF1, GFM, mtEF-G1 Yes No Comparative Toxicogenomics Database:85476, Ensembl:ENSG00000168827, GeneCard:GFM1, HGNC:HGNC:13780, HumanCyc Gene:HS09831, ModBase:Q96RP9, NCBI Gene:85476, OMIM:606639, OMIM:609060, RefSeq DNA:NG_008441, RefSeq DNA:NT_005612, RefSeq Protein:NP_079272, RefSeq RNA:NM_024996, UniProtKB:Q96RP9 No chr3 158362286 158410361 158644497 158692572 +PA134949527 84340 HGNC:29682 ENSG00000164347 GTP dependent ribosome recycling factor mitochondrial 2 GFM2 """G elongation factor mitochondrial 2"", ""G elongation factor, mitochondrial 2"", ""ribosome releasing factor 2""" EF-G2mt, EFG2, FLJ21661 Yes No Comparative Toxicogenomics Database:84340, Ensembl:ENSG00000164347, GeneCard:GFM2, HGNC:HGNC:29682, HumanCyc Gene:HS09069, ModBase:Q969S9, NCBI Gene:84340, OMIM:606544, RefSeq DNA:NG_011531, RefSeq DNA:NT_006713, RefSeq Protein:NP_115756, RefSeq Protein:NP_733781, RefSeq Protein:NP_733792, RefSeq RNA:NM_032380, RefSeq RNA:NM_170681, RefSeq RNA:NM_170691, UniProtKB:Q969S9 No chr5 74017029 74063196 74721204 74767371 +PA128394667 54438 HGNC:21096 ENSG00000145990 Gfo/Idh/MocA-like oxidoreductase domain containing 1 GFOD1 glucose-fructose oxidoreductase domain containing 1 ADG-90, C6orf114, FLJ20330 Yes No Comparative Toxicogenomics Database:54438, Ensembl:ENSG00000145990, GeneCard:GFOD1, HGNC:HGNC:21096, HumanCyc Gene:HS07308, ModBase:Q9NXC2, NCBI Gene:54438, RefSeq DNA:NT_007592, RefSeq Protein:NP_001229557, RefSeq Protein:NP_001229558, RefSeq Protein:NP_001229559, RefSeq Protein:NP_061861, RefSeq RNA:NM_001242628, RefSeq RNA:NM_001242629, RefSeq RNA:NM_001242630, RefSeq RNA:NM_018988, RefSeq RNA:NR_038459, UCSC Genome Browser:NM_018988, UniProtKB:Q9NXC2 No chr6 13363587 13487869 13357830 13487637 +PA144596430 81577 HGNC:28159 ENSG00000141098 Gfo/Idh/MocA-like oxidoreductase domain containing 2 GFOD2 glucose-fructose oxidoreductase domain containing 2 FLJ23802, MGC11335 Yes No Ensembl:ENSG00000141098, GeneCard:GFOD2, HGNC:HGNC:28159, HumanCyc Gene:HS06800, ModBase:Q3B7J2, NCBI Gene:81577, RefSeq DNA:NT_010498, RefSeq Protein:NP_110446, RefSeq RNA:NM_030819, RefSeq RNA:NR_027398, RefSeq RNA:NR_027399, UniProtKB:Q3B7J2 No chr16 67708436 67753273 67674533 67719370 +PA28651 2673 HGNC:4241 ENSG00000198380 glutamine--fructose-6-phosphate transaminase 1 GFPT1 GFA, GFAT, GFAT1, GFPT Yes No Comparative Toxicogenomics Database:2673, Ensembl:ENSG00000198380, GenAtlas:GFPT1, GeneCard:GFPT1, HGNC:HGNC:4241, HumanCyc Gene:HS09974, ModBase:Q06210, NCBI Gene:2673, OMIM:138292, RefSeq DNA:NT_022184, RefSeq Protein:NP_002047, RefSeq RNA:NM_002056, UCSC Genome Browser:NM_002056, UniProtKB:Q06210 No chr2 69546901 69614386 69319769 69387254 +PA28652 9945 HGNC:4242 ENSG00000131459 glutamine-fructose-6-phosphate transaminase 2 GFPT2 glutamine: fructose-6-phosphate aminotransferase 2 GFAT2 Yes No Comparative Toxicogenomics Database:9945, Ensembl:ENSG00000131459, GenAtlas:GFPT2, GeneCard:GFPT2, HGNC:HGNC:4242, HumanCyc Gene:HS05529, ModBase:O94808, NCBI Gene:9945, OMIM:603865, RefSeq DNA:NT_023133, RefSeq Protein:NP_005101, RefSeq RNA:NM_005110, UCSC Genome Browser:NM_005110, UniProtKB:O94808 No chr5 179727698 179780341 180300690 180353387 +PA28653 2674 HGNC:4243 ENSG00000151892 GDNF family receptor alpha 1 GFRA1 GDNFR, GDNFRA, GFR-ALPHA-1, RET1L, RETL1, TRNR1 Yes No Comparative Toxicogenomics Database:2674, Ensembl:ENSG00000151892, GenAtlas:GFRA1, GeneCard:GFRA1, HGNC:HGNC:4243, HumanCyc Gene:HS07778, ModBase:P56159, NCBI Gene:2674, OMIM:601496, RefSeq DNA:NT_030059, RefSeq Protein:NP_001138925, RefSeq Protein:NP_005255, RefSeq Protein:NP_665736, RefSeq RNA:NM_001145453, RefSeq RNA:NM_005264, RefSeq RNA:NM_145793, UCSC Genome Browser:NM_005264, UniProtKB:P56159 No chr10 117816436 118033126 116056925 116273645 +PA28654 2675 HGNC:4244 ENSG00000168546 GDNF family receptor alpha 2 GFRA2 GDNFRB, NTNRA, RETL2, TRNR2 Yes Yes Comparative Toxicogenomics Database:2675, Ensembl:ENSG00000168546, GenAtlas:GFRA2, GeneCard:GFRA2, HGNC:HGNC:4244, HumanCyc Gene:HS09785, ModBase:O00451, NCBI Gene:2675, OMIM:601956, RefSeq DNA:NT_167187, RefSeq Protein:NP_001158510, RefSeq Protein:NP_001158511, RefSeq Protein:NP_001486, RefSeq RNA:NM_001165038, RefSeq RNA:NM_001165039, RefSeq RNA:NM_001495, UCSC Genome Browser:NM_001495, UniProtKB:O00451, UniProtKB:Q58J92 No chr8 21549530 21672392 21690403 21789296 +PA28655 2676 HGNC:4245 ENSG00000146013 GDNF family receptor alpha 3 GFRA3 GFRa-3 Yes No Comparative Toxicogenomics Database:2676, Ensembl:ENSG00000146013, GenAtlas:GFRA3, GeneCard:GFRA3, HGNC:HGNC:4245, HumanCyc Gene:HS07312, NCBI Gene:2676, OMIM:605710, RefSeq DNA:NT_034772, RefSeq Protein:NP_001487, RefSeq RNA:NM_001496, UCSC Genome Browser:NM_001496, UniProtKB:O60609 No chr5 137588069 137610544 138252380 138274564 +PA28656 64096 HGNC:13821 ENSG00000125861 GDNF family receptor alpha 4 GFRA4 persephin receptor Yes No Ensembl:ENSG00000125861, GenAtlas:GFRA4, GeneCard:GFRA4, HGNC:HGNC:13821, HumanCyc Gene:HS04958, ModBase:Q9GZZ7, NCBI Gene:64096, RefSeq DNA:NT_011387, RefSeq Protein:NP_071422, RefSeq Protein:NP_665705, RefSeq RNA:NM_022139, RefSeq RNA:NM_145762, UCSC Genome Browser:NM_022139, UniProtKB:Q9GZZ7 No chr20 3639939 3644046 3659292 3663399 +PA145008357 389400 HGNC:32789 ENSG00000187871 GDNF family receptor alpha like GFRAL C6orf144, GRAL, UNQ9356, bA360D14.1 Yes No Ensembl:ENSG00000187871, GeneCard:GFRAL, HGNC:HGNC:32789, ModBase:Q6UXV0, NCBI Gene:389400, RefSeq DNA:NT_007592, RefSeq Protein:NP_997293, RefSeq RNA:NM_207410, UniProtKB:Q6UXV0 No chr6 55192267 55267291 55327469 55402493 +PA37056 7264 HGNC:12390 GDP-L-fucose synthase GFUS """GDP-L-fucose synthase"", ""short chain dehydrogenase/reductase family 4E, member 1"", ""tissue specific transplantation antigen P35B""" FX, P35B, SDR4E1, TSTA3 Yes No Comparative Toxicogenomics Database:7264, GenAtlas:TSTA3, GeneCard:TSTA3, HGNC:HGNC:12390, HumanCyc Gene:HS02591, ModBase:Q13630, NCBI Gene:7264, OMIM:137020, RefSeq DNA:NT_008046, RefSeq Protein:NP_003304, RefSeq RNA:NM_003313, UCSC Genome Browser:NM_003313, UniProtKB:Q13630 No chr8 144694788 144700358 143612618 143618043 +PA166123689 100507003 HGNC:44663 ENSG00000261949 golgi associated olfactory signaling regulator GFY """Golgi protein in olfactory neurons"", ""golgi-associated, olfactory signaling regulator""" Goofy Yes No Ensembl:ENSG00000261949, HGNC:HGNC:44663, NCBI Gene:100507003 No +PA28657 26088 HGNC:17842 ENSG00000100083 golgi associated, gamma adaptin ear containing, ARF binding protein 1 GGA1 golgi-associated, gamma adaptin ear containing, ARF binding protein 1 Yes No Comparative Toxicogenomics Database:26088, Ensembl:ENSG00000100083, GenAtlas:GGA1, GeneCard:GGA1, HGNC:HGNC:17842, HumanCyc Gene:HS01972, ModBase:Q9UJY5, NCBI Gene:26088, OMIM:606004, RefSeq DNA:NT_011520, RefSeq Protein:NP_001001560, RefSeq Protein:NP_001001561, RefSeq Protein:NP_001166158, RefSeq Protein:NP_001166159, RefSeq Protein:NP_037497, RefSeq RNA:NM_001001560, RefSeq RNA:NM_001001561, RefSeq RNA:NM_001172687, RefSeq RNA:NM_001172688, RefSeq RNA:NM_013365, UCSC Genome Browser:NM_013365, UniProtKB:B0QYR7, UniProtKB:Q86YA9, UniProtKB:Q9UJY5 No chr22 38004481 38029571 37607235 37633564 +PA28658 23062 HGNC:16064 ENSG00000103365 golgi associated, gamma adaptin ear containing, ARF binding protein 2 GGA2 golgi-associated, gamma adaptin ear containing, ARF binding protein 2 KIAA1080, VEAR Yes No Comparative Toxicogenomics Database:23062, Ensembl:ENSG00000103365, GenAtlas:GGA2, GeneCard:GGA2, HGNC:HGNC:16064, HumanCyc Gene:HS02496, ModBase:Q9UJY4, NCBI Gene:23062, OMIM:606005, RefSeq DNA:NT_010393, RefSeq Protein:NP_055859, RefSeq RNA:NM_015044, UCSC Genome Browser:NM_015044, UniProtKB:Q9UJY4 No chr16 23474863 23521815 23463542 23510494 +PA28659 23163 HGNC:17079 ENSG00000125447 golgi associated, gamma adaptin ear containing, ARF binding protein 3 GGA3 golgi-associated, gamma adaptin ear containing, ARF binding protein 3 KIAA0154 Yes No Comparative Toxicogenomics Database:23163, Ensembl:ENSG00000125447, GenAtlas:GGA3, GeneCard:GGA3, HGNC:HGNC:17079, HumanCyc Gene:HS04887, ModBase:Q9NZ52, NCBI Gene:23163, OMIM:606006, RefSeq DNA:NT_010783, RefSeq Protein:NP_001166174, RefSeq Protein:NP_001166175, RefSeq Protein:NP_054720, RefSeq Protein:NP_619525, RefSeq RNA:NM_001172703, RefSeq RNA:NM_001172704, RefSeq RNA:NM_014001, RefSeq RNA:NM_138619, RefSeq RNA:NR_033345, UCSC Genome Browser:NM_014001, UniProtKB:A8K6I6, UniProtKB:A8K6M0, UniProtKB:B7Z7E2, UniProtKB:B7Z7M9, UniProtKB:Q9NZ52 No chr17 73232694 73258444 75225464 75262393 +PA164714645 87769 HGNC:25100 ENSG00000134864 gamma-glutamylamine cyclotransferase GGACT A2LD1 Yes No Ensembl:ENSG00000134864, GeneCard:A2LD1, HGNC:HGNC:25100, ModBase:Q9BVM4, NCBI Gene:87769, OMIM:613378, RefSeq DNA:NT_009952, RefSeq Protein:NP_001182016, RefSeq Protein:NP_149101, RefSeq RNA:NM_001195087, RefSeq RNA:NM_033110, UniProtKB:Q9BVM4 No chr13 101182418 101241046 100530164 100588792 +PA162389392 79017 HGNC:21705 ENSG00000006625 gamma-glutamylcyclotransferase GGCT C7orf24, CRF21, GCTG, Ggc, MGC3077 Yes No Ensembl:ENSG00000006625, GeneCard:GGCT, HGNC:HGNC:21705, HumanCyc Gene:HS12014, NCBI Gene:79017, OMIM:137170, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001186744, RefSeq Protein:NP_001186745, RefSeq Protein:NP_001186746, RefSeq Protein:NP_076956, RefSeq RNA:NM_001199815, RefSeq RNA:NM_001199816, RefSeq RNA:NM_001199817, RefSeq RNA:NM_024051, RefSeq RNA:NR_037669, UniProtKB:O75223 No chr7 30536237 30544457 30496621 30504841 +PA28660 2677 HGNC:4247 ENSG00000115486 gamma-glutamyl carboxylase GGCX peptidyl-glutamate 4-carboxylase, vitamin K-dependent gamma-carboxylase VKCFD1 Yes Yes Comparative Toxicogenomics Database:2677, Ensembl:ENSG00000115486, GenAtlas:GGCX, GeneCard:GGCX, HGNC:HGNC:4247, HumanCyc Gene:HS03897, ModBase:P38435, NCBI Gene:2677, OMIM:137167, OMIM:277450, OMIM:610842, RefSeq DNA:NG_011811, RefSeq DNA:NT_022184, RefSeq Protein:NP_000812, RefSeq Protein:NP_001135741, RefSeq RNA:NM_000821, RefSeq RNA:NM_001142269, UCSC Genome Browser:NM_000821, UniProtKB:B4DMC5, UniProtKB:P38435 No chr2 85771978 85788657 85544720 85561534 +PA432 8836 HGNC:4248 ENSG00000137563 gamma-glutamyl hydrolase GGH """conjugase"", ""folylpolygammaglutamyl hydrolase"", ""gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)""" GATD10 Yes Yes Comparative Toxicogenomics Database:8836, Ensembl:ENSG00000137563, GenAtlas:GGH, GeneCard:GGH, HGNC:HGNC:4248, HumanCyc Gene:HS06361, ModBase:Q92820, NCBI Gene:8836, OMIM:601509, RefSeq DNA:NT_008183, RefSeq Protein:NP_003869, RefSeq RNA:NM_003878, UCSC Genome Browser:NM_003878, UniProtKB:Q92820 No chr8 63927638 63951610 63015079 63039051 +PA134903452 199720 HGNC:18869 ENSG00000179168 gametogenetin GGN FLJ35713, MGC33369 Yes No Ensembl:ENSG00000179168, GeneCard:GGN, HGNC:HGNC:18869, HumanCyc Gene:HS17218, ModBase:Q86UU5, NCBI Gene:199720, OMIM:609966, RefSeq DNA:NT_011109, RefSeq Protein:NP_689870, RefSeq RNA:NM_152657, UniProtKB:Q86UU5 No chr19 38874992 38879096 38384347 38388603 +PA162389393 449520 HGNC:19427 ENSG00000204188 gametogenetin binding protein 1 (pseudogene) GGNBP1 Yes No Ensembl:ENSG00000204188, GeneCard:GGNBP1, HGNC:HGNC:19427, NCBI Gene:449520, OMIM:609495, RefSeq DNA:NT_007592, RefSeq Protein:XP_001721229, RefSeq Protein:XP_001721338, RefSeq Protein:XP_001724506, RefSeq RNA:NR_028361, RefSeq RNA:XM_001721177, RefSeq RNA:XM_001721286, RefSeq RNA:XM_001724454 No chr6 33551476 33556803 33583699 33589026 +PA162389409 79893 HGNC:19357 ENSG00000278311 gametogenetin binding protein 2 GGNBP2 DIF-3, DIF3, FLJ21230, FLJ22561, LZK1, ZFP403, ZNF403 Yes No Ensembl:ENSG00000278311, GeneCard:GGNBP2, HGNC:HGNC:19357, HumanCyc Gene:HS12007, ModBase:Q9H3C7, NCBI Gene:79893, OMIM:612275, RefSeq DNA:NT_010783, RefSeq Protein:NP_079111, RefSeq RNA:NM_024835, UniProtKB:Q9H3C7 No chr17 34900737 34946278 36544888 36589848 +PA28661 9453 HGNC:4249 ENSG00000152904 geranylgeranyl diphosphate synthase 1 GGPS1 Geranylgeranyl pyrophosphate synthase GGPPS1 Yes No Comparative Toxicogenomics Database:9453, Ensembl:ENSG00000152904, GenAtlas:GGPS1, GeneCard:GGPS1, HGNC:HGNC:4249, HumanCyc Gene:HS07859, ModBase:O95749, NCBI Gene:9453, OMIM:606982, RefSeq DNA:NT_167186, RefSeq Protein:NP_001032354, RefSeq Protein:NP_001032355, RefSeq Protein:NP_004828, RefSeq RNA:NM_001037277, RefSeq RNA:NM_001037278, RefSeq RNA:NM_004837, RefSeq RNA:NR_036605, UCSC Genome Browser:NM_004837, UniProtKB:A8MVQ8, UniProtKB:O95749 No chr1 235491753 235507847 235328438 235344532 +PA28662 2678 HGNC:4250 ENSG00000100031 gamma-glutamyltransferase 1 GGT1 CD224, D22S672, D22S732, GGT Yes Yes Comparative Toxicogenomics Database:2678, Ensembl:ENSG00000100031, GenAtlas:GGT1, GeneCard:GGT1, HGNC:HGNC:4250, HumanCyc Gene:HS01957, ModBase:P19440, NCBI Gene:2678, OMIM:231950, OMIM:612346, RefSeq DNA:NG_008111, RefSeq DNA:NT_011520, RefSeq Protein:NP_001027536, RefSeq Protein:NP_001027537, RefSeq Protein:NP_005256, RefSeq Protein:NP_038347, RefSeq RNA:NM_001032364, RefSeq RNA:NM_001032365, RefSeq RNA:NM_005265, RefSeq RNA:NM_013430, UCSC Genome Browser:NM_005265, UniProtKB:P19440 No chr22 24979629 25024972 24583750 24629005 +PA28663 728441 HGNC:4251 ENSG00000133475 gamma-glutamyltransferase 2 GGT2 GGT Yes No Ensembl:ENSG00000133475, GenAtlas:GGT2, GeneCard:GGT2, HGNC:HGNC:4251, NCBI Gene:728441, OMIM:137181, RefSeq DNA:NT_011520, RefSeq Protein:XP_001129377, RefSeq Protein:XP_001129425, RefSeq Protein:XP_003118870, RefSeq RNA:XM_001129377, RefSeq RNA:XM_001129425, RefSeq RNA:XM_003118822 No chr22 21562261 21594237 21207972 21282982 +PA162389442 2687 HGNC:4260 ENSG00000099998 gamma-glutamyltransferase 5 GGT5 GGT-REL, GGTLA1 Yes No Ensembl:ENSG00000099998, GeneCard:GGT5, HGNC:HGNC:4260, HumanCyc Gene:HS01949, ModBase:P36269, NCBI Gene:2687, OMIM:137168, RefSeq DNA:NT_011520, RefSeq Protein:NP_001093251, RefSeq Protein:NP_001093252, RefSeq Protein:NP_004112, RefSeq RNA:NM_001099781, RefSeq RNA:NM_001099782, RefSeq RNA:NM_004121, UniProtKB:P36269, UniProtKB:Q53XM9, UniProtKB:Q6GMP0 No chr22 24615622 24641317 24219654 24245142 +PA142671739 124975 HGNC:26891 ENSG00000167741 gamma-glutamyltransferase 6 GGT6 FLJ90165 Yes No Comparative Toxicogenomics Database:124975, Ensembl:ENSG00000167741, GeneCard:GGT6, HGNC:HGNC:26891, HumanCyc Gene:HS09617, ModBase:Q6P531, NCBI Gene:124975, OMIM:612341, RefSeq DNA:NT_010718, RefSeq Protein:NP_001116362, RefSeq Protein:NP_699169, RefSeq RNA:NM_001122890, RefSeq RNA:NM_153338, UniProtKB:Q6P531, UniProtKB:Q6ZPD7 No chr17 4460222 4463876 4556927 4560596 +PA28669 2686 HGNC:4259 ENSG00000131067 gamma-glutamyltransferase 7 GGT7 D20S101, GGTL3, GGTL5, dJ18C9.2 Yes No Ensembl:ENSG00000131067, GenAtlas:GGTL3, GeneCard:GGT7, GeneCard:GGTL3, HGNC:HGNC:4259, HumanCyc Gene:HS05482, NCBI Gene:2686, OMIM:612342, RefSeq DNA:NT_011362, RefSeq DNA:NT_028392, RefSeq Protein:NP_821158, RefSeq RNA:NM_178026, UCSC Genome Browser:NM_052830, UniProtKB:A0PJJ9, UniProtKB:Q9UJ14 No chr20 33432523 33460661 34844720 34872858 +PA166351820 2681 HGNC:4253 glycoprotein alpha-galactosyltransferase 1 (inactive) GGTA1 GGTA, GGTA1P, GLYT2 Yes No HGNC:HGNC:4253, NCBI Gene:2681 No 0 0 0 0 +PA28671 92086 HGNC:16437 ENSG00000149435 gamma-glutamyltransferase light chain 1 GGTLC1 GGTLA3, GGTLA4, dJ831C21.1, dJ831C21.2 Yes No Ensembl:ENSG00000149435, GenAtlas:GGTLA4, GeneCard:GGTLA4, GeneCard:GGTLC1, HGNC:HGNC:16437, HumanCyc Gene:HS07611, NCBI Gene:92086, OMIM:612338, RefSeq DNA:NT_011387, RefSeq Protein:NP_563577, RefSeq Protein:NP_842563, RefSeq Protein:NP_842564, RefSeq RNA:NM_080920, RefSeq RNA:NM_178311, RefSeq RNA:NM_178312, UCSC Genome Browser:NM_080920, UniProtKB:Q9BX51 No chr20 23965687 23969475 23985053 23989134 +PA162389523 91227 HGNC:18596 ENSG00000100121 gamma-glutamyltransferase light chain 2 GGTLC2 GGTL4 Yes No Ensembl:ENSG00000100121, GeneCard:GGTLC2, HGNC:HGNC:18596, HumanCyc Gene:HS01981, ModBase:Q14390, NCBI Gene:91227, OMIM:612339, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520, RefSeq Protein:NP_954578, RefSeq RNA:NM_199127, UniProtKB:Q14390, UniProtKB:Q6ISH0 No chr22 22987059 22990368 22644620 22647898 +PA162389536 728226 HGNC:33426 ENSG00000274252 gamma-glutamyltransferase light chain family member 3 GGTLC3 gamma-glutamyltransferase light chain 3 Yes No Ensembl:ENSG00000274252, GeneCard:GGTLC3, HGNC:HGNC:33426, ModBase:B5MD39, NCBI Gene:728226, OMIM:612340, RefSeq DNA:NG_011826, RefSeq DNA:NT_011519 No chr22 20366205 20368028 18516338 18518161 +PA171 2688 HGNC:4261 ENSG00000259384 growth hormone 1 GH1 pituitary growth hormone, somatotropin GH, GH-N, GHN, hGH-N Yes No Comparative Toxicogenomics Database:2688, Ensembl:ENSG00000259384, GenAtlas:GH1, GeneCard:GH1, HGNC:HGNC:4261, HumanCyc Gene:HS00253, ModBase:P01241, NCBI Gene:2688, OMIM:139250, OMIM:173100, OMIM:262400, OMIM:262650, OMIM:604271, OMIM:612781, RefSeq DNA:NG_001334, RefSeq DNA:NG_011676, RefSeq DNA:NT_010783, RefSeq Protein:NP_000506, RefSeq Protein:NP_072053, RefSeq Protein:NP_072054, RefSeq Protein:NP_072055, RefSeq Protein:NP_072056, RefSeq RNA:NM_000515, RefSeq RNA:NM_022559, RefSeq RNA:NM_022560, RefSeq RNA:NM_022561, RefSeq RNA:NM_022562, UCSC Genome Browser:NM_000515, UniProtKB:A6NEF6, UniProtKB:B1A4G6, UniProtKB:B1A4G7, UniProtKB:B1A4G9, UniProtKB:P01241 No chr17 61994560 61996206 63917193 63918852 +PA28672 2689 HGNC:4262 ENSG00000136487 growth hormone 2 GH2 placenta-specific growth hormone, placental-specific growth hormone GH-V, GHL, GHV, hGH-V Yes No Ensembl:ENSG00000136487, GenAtlas:GH2, GeneCard:GH2, HGNC:HGNC:4262, HumanCyc Gene:HS10730, ModBase:P01242, NCBI Gene:2689, OMIM:139240, RefSeq DNA:NG_001334, RefSeq DNA:NT_010783, RefSeq Protein:NP_002050, RefSeq Protein:NP_072050, RefSeq Protein:NP_072051, RefSeq Protein:NP_072052, RefSeq RNA:NM_002059, RefSeq RNA:NM_022556, RefSeq RNA:NM_022557, RefSeq RNA:NM_022558, UCSC Genome Browser:NM_002059, UniProtKB:B1A4H5, UniProtKB:B1A4H7, UniProtKB:O14643, UniProtKB:O14644, UniProtKB:P01242 No chr17 61957572 61960039 63880212 63881942 +PA147358034 84514 HGNC:24438 ENSG00000167925 GH3 domain containing GHDC LGP1 Yes No Ensembl:ENSG00000167925, GeneCard:GHDC, HGNC:HGNC:24438, HumanCyc Gene:HS09661, ModBase:Q8N2G8, NCBI Gene:84514, OMIM:608587, RefSeq DNA:NT_010783, RefSeq Protein:NP_001136094, RefSeq Protein:NP_001136095, RefSeq Protein:NP_115873, RefSeq RNA:NM_001142622, RefSeq RNA:NM_001142623, RefSeq RNA:NM_032484, RefSeq RNA:NR_024573, UniProtKB:B4DQS4, UniProtKB:Q8N2G8 No chr17 40341105 40346550 42189087 42194532 +PA28673 27069 HGNC:17281 ENSG00000165678 growth hormone inducible transmembrane protein GHITM transmembrane BAX inhibitor motif containing 5 DERP2, HSPC282, MICS1, My021, PTD010, TMBIM5 Yes No Comparative Toxicogenomics Database:27069, Ensembl:ENSG00000165678, GenAtlas:GHITM, GeneCard:GHITM, HGNC:HGNC:17281, HumanCyc Gene:HS09267, ModBase:Q9H3K2, NCBI Gene:27069, RefSeq DNA:NT_030059, RefSeq Protein:NP_055209, RefSeq RNA:NM_014394, UCSC Genome Browser:NM_014394, UniProtKB:Q9H3K2 No chr10 85899185 85913311 84139429 84153555 +PA28674 2690 HGNC:4263 ENSG00000112964 growth hormone receptor GHR growth hormone binding protein GHBP Yes No Comparative Toxicogenomics Database:2690, Ensembl:ENSG00000112964, GenAtlas:GHR, GeneCard:GHR, HGNC:HGNC:4263, HumanCyc Gene:HS03633, ModBase:P10912, NCBI Gene:2690, OMIM:143890, OMIM:262500, OMIM:600946, OMIM:604271, RefSeq DNA:NG_011688, RefSeq DNA:NT_006576, RefSeq Protein:NP_000154, RefSeq Protein:NP_001229328, RefSeq Protein:NP_001229329, RefSeq Protein:NP_001229330, RefSeq Protein:NP_001229331, RefSeq Protein:NP_001229332, RefSeq Protein:NP_001229333, RefSeq Protein:NP_001229334, RefSeq Protein:NP_001229335, RefSeq Protein:NP_001229389, RefSeq Protein:NP_001229390, RefSeq Protein:NP_001229391, RefSeq RNA:NM_000163, RefSeq RNA:NM_001242399, RefSeq RNA:NM_001242400, RefSeq RNA:NM_001242401, RefSeq RNA:NM_001242402, RefSeq RNA:NM_001242403, RefSeq RNA:NM_001242404, RefSeq RNA:NM_001242405, RefSeq RNA:NM_001242406, RefSeq RNA:NM_001242460, RefSeq RNA:NM_001242461, RefSeq RNA:NM_001242462, UCSC Genome Browser:NM_000163, UniProtKB:P10912 No chr5 42423577 42721980 42423775 42721878 +PA28675 2691 HGNC:4265 ENSG00000118702 growth hormone releasing hormone GHRH sermorelin, somatocrinin, somatoliberin GHRF Yes No Comparative Toxicogenomics Database:2691, Ensembl:ENSG00000118702, GenAtlas:GHRH, GeneCard:GHRH, HGNC:HGNC:4265, HumanCyc Gene:HS04243, ModBase:P01286, NCBI Gene:2691, OMIM:139190, RefSeq DNA:NT_011362, RefSeq Protein:NP_001171660, RefSeq Protein:NP_066567, RefSeq RNA:NM_001184731, RefSeq RNA:NM_021081, UCSC Genome Browser:NM_021081, UniProtKB:P01286 No chr20 35879489 35887534 37251086 37261817 +PA28676 2692 HGNC:4266 ENSG00000106128 growth hormone releasing hormone receptor GHRHR Yes No Comparative Toxicogenomics Database:2692, Ensembl:ENSG00000106128, GenAtlas:GHRHR, GeneCard:GHRHR, HGNC:HGNC:4266, HumanCyc Gene:HS02867, IUPHAR Receptor:247, ModBase:Q02643, NCBI Gene:2692, OMIM:139191, OMIM:612781, RefSeq DNA:NG_021416, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000814, RefSeq Protein:NP_001009824, RefSeq RNA:NM_000823, RefSeq RNA:NM_001009824, UCSC Genome Browser:NM_000823, UniProtKB:Q02643 No chr7 31003636 31019146 30964021 30979531 +PA142671740 51738 HGNC:18129 ENSG00000157017 ghrelin and obestatin prepropeptide GHRL ghrelin/obestatin prepropeptide, prepro-appetite regulatory hormone MTLRP, ghrelin, obestatin Yes No Comparative Toxicogenomics Database:51738, Ensembl:ENSG00000157017, GeneCard:GHRL, HGNC:HGNC:18129, HumanCyc Gene:HS08169, NCBI Gene:51738, OMIM:601665, OMIM:605353, RefSeq DNA:NG_011560, RefSeq DNA:NT_022517, RefSeq Protein:NP_001128413, RefSeq Protein:NP_001128416, RefSeq Protein:NP_001128417, RefSeq Protein:NP_001128418, RefSeq Protein:NP_057446, RefSeq RNA:NM_001134941, RefSeq RNA:NM_001134944, RefSeq RNA:NM_001134945, RefSeq RNA:NM_001134946, RefSeq RNA:NM_016362, RefSeq RNA:NR_024132, RefSeq RNA:NR_024133, RefSeq RNA:NR_024134, RefSeq RNA:NR_024135, RefSeq RNA:NR_024136, RefSeq RNA:NR_024137, RefSeq RNA:NR_024138, UniProtKB:A8CF34, UniProtKB:A8CF38, UniProtKB:A8CF42, UniProtKB:A8DN29, UniProtKB:A8DN30, UniProtKB:Q9UBU3 No chr3 10327434 10334631 10285750 10292947 +PA162389553 100126793 HGNC:33885 ENSG00000240288 ghrelin opposite strand/antisense RNA GHRLOS GHRL antisense RNA 1 (non-protein coding), non-protein coding RNA 68 GHRL-AS1, NCRNA00068 Yes No Ensembl:ENSG00000240288, GeneCard:GHRLOS, HGNC:HGNC:33885, NCBI Gene:100126793, RefSeq DNA:NT_022517, RefSeq RNA:NR_004431, RefSeq RNA:NR_024144, RefSeq RNA:NR_024145, RefSeq RNA:NR_024146 No chr3 10322636 10335133 10280952 10293449 +PA28677 2693 HGNC:4267 ENSG00000121853 growth hormone secretagogue receptor GHSR ghrelin receptor GHS-R, GHS-R1a, GHSR-1a Yes Yes Comparative Toxicogenomics Database:2693, Ensembl:ENSG00000121853, GenAtlas:GHSR, GeneCard:GHSR, HGNC:HGNC:4267, HumanCyc Gene:HS04525, IUPHAR Receptor:246, ModBase:Q92847, NCBI Gene:2693, OMIM:601898, OMIM:604271, RefSeq DNA:NG_021159, RefSeq DNA:NT_005612, RefSeq Protein:NP_004113, RefSeq Protein:NP_940799, RefSeq RNA:NM_004122, RefSeq RNA:NM_198407, UCSC Genome Browser:NM_004122, UniProtKB:Q92847 No chr3 172161081 172166246 172443291 172448456 +PA134994398 79018 HGNC:28453 ENSG00000141034 GID complex subunit 4 homolog GID4 """GID complex subunit 4"", ""GID complex subunit 4, VID24 homolog (S. cerevisiae)"", ""vacuolar import and degradation 24""" C17orf39, VID24 Yes No Comparative Toxicogenomics Database:79018, Ensembl:ENSG00000141034, GeneCard:C17orf39, HGNC:HGNC:28453, HumanCyc Gene:HS13859, ModBase:Q8IVV7, NCBI Gene:79018, RefSeq DNA:NT_010718, RefSeq Protein:NP_076957, RefSeq RNA:NM_024052, UniProtKB:B3KXL6, UniProtKB:Q8IVV7 No chr17 17942611 17971719 18039297 18068405 +PA25649 54994 HGNC:15857 ENSG00000101193 GID complex subunit 8 homolog GID8 GID complex subunit 8, GID complex subunit 8 homolog (S. cerevisiae), two hybrid associated protein No. 1 with RanBPM C20orf11, FLJ20602, TWA1, bA305P22.1 Yes No Ensembl:ENSG00000101193, GenAtlas:C20orf11, GeneCard:C20orf11, HGNC:HGNC:15857, HumanCyc Gene:HS12442, ModBase:Q9NWU2, NCBI Gene:54994, OMIM:611625, RefSeq DNA:NT_011333, RefSeq Protein:NP_060366, RefSeq RNA:NM_017896, UCSC Genome Browser:NM_017896, UniProtKB:Q9NWU2 No chr20 61569421 61579827 62938089 62948475 +PA162389554 64599 HGNC:9126 ENSG00000146830 GRB10 interacting GYF protein 1 GIGYF1 GYF domain containing 1 GYF1, PERQ1 Yes No Ensembl:ENSG00000146830, GeneCard:GIGYF1, HGNC:HGNC:9126, HumanCyc Gene:HS14176, ModBase:O75420, NCBI Gene:64599, OMIM:612064, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_072096, RefSeq RNA:NM_022574, UniProtKB:O75420 No chr7 100277130 100286870 100679507 100694282 +PA36647 26058 HGNC:11960 ENSG00000204120 GRB10 interacting GYF protein 2 GIGYF2 GYF domain containing 2 GYF2, KIAA0642, PARK11, PERQ2, PERQ3, TNRC15 Yes No Comparative Toxicogenomics Database:26058, Ensembl:ENSG00000204120, GenAtlas:TNRC15, GeneCard:GIGYF2, GeneCard:TNRC15, HGNC:HGNC:11960, ModBase:Q6Y7W6, NCBI Gene:26058, OMIM:607688, OMIM:612003, RefSeq DNA:NG_011847, RefSeq DNA:NT_005403, RefSeq Protein:NP_001096616, RefSeq Protein:NP_001096617, RefSeq Protein:NP_001096618, RefSeq Protein:NP_056390, RefSeq RNA:NM_001103146, RefSeq RNA:NM_001103147, RefSeq RNA:NM_001103148, RefSeq RNA:NM_015575, UCSC Genome Browser:NM_015575, UniProtKB:A6H8W4, UniProtKB:Q6Y7W6 No chr2 233562015 233725287 232697305 232860577 +PA134978698 170575 HGNC:23237 ENSG00000213203 GTPase, IMAP family member 1 GIMAP1 immune-associated nucleotide-binding protein 2 HIMAP1, IAN2, IMAP1, IMAP38 Yes No Ensembl:ENSG00000213203, GeneCard:GIMAP1, HGNC:HGNC:23237, ModBase:Q8WWP7, NCBI Gene:170575, OMIM:608084, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_570115, RefSeq RNA:NM_130759, UniProtKB:Q8WWP7 No chr7 150413645 150421368 150716557 150724280 +PA134984698 26157 HGNC:21789 ENSG00000106560 GTPase, IMAP family member 2 GIMAP2 immune-associated nucleotide-binding protein 12 DKFZp586D0824, HIMAP2, IAN12, IMAP2 Yes No Comparative Toxicogenomics Database:26157, Ensembl:ENSG00000106560, GeneCard:GIMAP2, HGNC:HGNC:21789, ModBase:Q9UG22, NCBI Gene:26157, OMIM:608085, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_056475, RefSeq RNA:NM_015660, UniProtKB:Q9UG22 No chr7 150382690 150390729 150685706 150693641 +PA134940831 474345 HGNC:30975 ENSG00000177590 GTPase, IMAP family member 3 pseudogene GIMAP3P GIMAP3 Yes No Ensembl:ENSG00000177590, GeneCard:GIMAP3P, HGNC:HGNC:30975, NCBI Gene:474345, RefSeq DNA:NG_004727, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 150444013 150444819 150746925 150747731 +PA128394681 55303 HGNC:21872 ENSG00000133574 GTPase, IMAP family member 4 GIMAP4 immune-associated nucleotide-binding protein 1 FLJ11110, HIMAP4, IAN1, IMAP4 Yes No Ensembl:ENSG00000133574, GeneCard:GIMAP4, HGNC:HGNC:21872, HumanCyc Gene:HS13485, ModBase:Q9NUV9, NCBI Gene:55303, OMIM:608087, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_060796, RefSeq RNA:NM_018326, UCSC Genome Browser:NM_018326, UniProtKB:Q9NUV9 No chr7 150264458 150271043 150567370 150573955 +PA29578 55340 HGNC:18005 ENSG00000196329 GTPase, IMAP family member 5 GIMAP5 immune-associated nucleotide-binding protein 5 HIMAP3, IAN4L1, IAN5 Yes No Comparative Toxicogenomics Database:55340, Ensembl:ENSG00000196329, GenAtlas:GIMAP5, GeneCard:GIMAP5, HGNC:HGNC:18005, ModBase:Q96F15, NCBI Gene:55340, OMIM:608086, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_060854, RefSeq RNA:NM_018384, UCSC Genome Browser:NM_018384, UniProtKB:Q96F15 No chr7 150434436 150440737 150737348 150743649 +PA128394720 474344 HGNC:21918 ENSG00000133561 GTPase, IMAP family member 6 GIMAP6 immune-associated nucleotide-binding protein 6 FLJ22690, IAN6 Yes Yes Comparative Toxicogenomics Database:474344, Ensembl:ENSG00000133561, GeneCard:GIMAP6, HGNC:HGNC:21918, ModBase:Q6P9H5, NCBI Gene:474344, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_078987, RefSeq RNA:NM_024711, RefSeq RNA:NR_024115, UCSC Genome Browser:NM_024711, UniProtKB:Q6P9H5 No chr7 150322463 150329736 150625375 150632648 +PA134915933 168537 HGNC:22404 ENSG00000179144 GTPase, IMAP family member 7 GIMAP7 immune-associated nucleotide-binding protein 7 IAN7, MGC27027 Yes No Ensembl:ENSG00000179144, GeneCard:GIMAP7, HGNC:HGNC:22404, HumanCyc Gene:HS17212, ModBase:Q8NHV1, NCBI Gene:168537, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_694968, RefSeq RNA:NM_153236, UniProtKB:Q8NHV1 No chr7 150211945 150218161 150514857 150521073 +PA128394762 155038 HGNC:21792 ENSG00000171115 GTPase, IMAP family member 8 GIMAP8 immune-associated nucleotide-binding protein 9 DKFZp667I133, IAN9, hIAN6 Yes No Comparative Toxicogenomics Database:155038, Ensembl:ENSG00000171115, GeneCard:GIMAP8, HGNC:HGNC:21792, ModBase:Q8ND71, NCBI Gene:155038, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_783161, RefSeq RNA:NM_175571, UCSC Genome Browser:NM_175571, UniProtKB:Q8ND71 No chr7 150147748 150176483 150450630 150479395 +PA166049106 100507096 HGNC:44141 ENSG00000250298 GIMAP family P-loop NTPase domain containing 1 GIMD1 Yes No Ensembl:ENSG00000250298, HGNC:HGNC:44141, NCBI Gene:100507096 No chr4 107279340 107288592 106357335 106368788 +PA162389674 54826 HGNC:25959 ENSG00000145723 gypsy retrotransposon integrase 1 GIN1 Ty3/Gypsy integrase 1, gypsy integrase 1 FLJ20125, GIN-1, TGIN1, ZH2C2 Yes No Ensembl:ENSG00000145723, GeneCard:GIN1, HGNC:HGNC:25959, HumanCyc Gene:HS07277, NCBI Gene:54826, RefSeq DNA:NT_034772, RefSeq Protein:NP_060146, RefSeq RNA:NM_017676, UniProtKB:Q9NXP7 No chr5 102421704 102455842 103086000 103120149 +PA134959041 116254 HGNC:21074 ENSG00000055211 glycosylated integral membrane protein 1 GINM1 glycoprotein integral membrane 1 C6orf72, dJ12G14.2 Yes No Ensembl:ENSG00000055211, GeneCard:C6orf72, HGNC:HGNC:21074, HumanCyc Gene:HS12143, ModBase:Q9NU53, NCBI Gene:116254, RefSeq DNA:NT_025741, RefSeq Protein:NP_620140, RefSeq RNA:NM_138785, UniProtKB:Q9NU53 No chr6 149887528 149912067 149566392 149590931 +PA145008291 9837 HGNC:28980 ENSG00000101003 GINS complex subunit 1 GINS1 GINS complex subunit 1 (Psf1 homolog) KIAA0186, PSF1 Yes No Comparative Toxicogenomics Database:9837, Ensembl:ENSG00000101003, GeneCard:GINS1, HGNC:HGNC:28980, HumanCyc Gene:HS02181, NCBI Gene:9837, OMIM:610608, RefSeq DNA:NT_011387, RefSeq Protein:NP_066545, RefSeq RNA:NM_021067, UniProtKB:Q14691 No chr20 25388323 25429191 25407470 25448568 +PA145008313 51659 HGNC:24575 ENSG00000131153 GINS complex subunit 2 GINS2 GINS complex subunit 2 (Psf2 homolog) PSF2, Pfs2 Yes No Comparative Toxicogenomics Database:51659, Ensembl:ENSG00000131153, GeneCard:GINS2, HGNC:HGNC:24575, HumanCyc Gene:HS13375, NCBI Gene:51659, OMIM:610609, RefSeq DNA:NT_010498, RefSeq Protein:NP_057179, RefSeq RNA:NM_016095, UniProtKB:Q9Y248 No chr16 85711280 85722588 85677674 85688982 +PA145008327 64785 HGNC:25851 ENSG00000181938 GINS complex subunit 3 GINS3 GINS complex subunit 3 (Psf3 homolog) FLJ13912, PSF3 Yes No Ensembl:ENSG00000181938, GeneCard:GINS3, HGNC:HGNC:25851, HumanCyc Gene:HS17753, NCBI Gene:64785, OMIM:610610, RefSeq DNA:NT_010498, RefSeq Protein:NP_001119601, RefSeq Protein:NP_001119602, RefSeq Protein:NP_073607, RefSeq RNA:NM_001126129, RefSeq RNA:NM_001126130, RefSeq RNA:NM_022770, UniProtKB:Q9BRX5 No chr16 58426298 58440048 58392394 58406144 +PA145008337 84296 HGNC:28226 ENSG00000147536 GINS complex subunit 4 GINS4 GINS complex subunit 4 (Sld5 homolog) MGC14799, SLD5 Yes No Ensembl:ENSG00000147536, GeneCard:GINS4, HGNC:HGNC:28226, HumanCyc Gene:HS14210, NCBI Gene:84296, OMIM:610611, RefSeq DNA:NT_167187, RefSeq Protein:NP_115712, RefSeq RNA:NM_032336, UniProtKB:Q9BRT9 No chr8 41386725 41402565 41529206 41545046 +PA28681 2695 HGNC:4270 ENSG00000159224 gastric inhibitory polypeptide GIP glucose-dependent insulinotropic polypeptide Yes No Comparative Toxicogenomics Database:2695, Ensembl:ENSG00000159224, GenAtlas:GIP, GeneCard:GIP, HGNC:HGNC:4270, HumanCyc Gene:HS08377, ModBase:P09681, NCBI Gene:2695, OMIM:137240, RefSeq DNA:NT_010783, RefSeq Protein:NP_004114, RefSeq RNA:NM_004123, UCSC Genome Browser:NM_004123, UniProtKB:P09681 No chr17 47035918 47045955 48958556 48968593 +PA34371 10755 HGNC:1226 ENSG00000123159 GIPC PDZ domain containing family member 1 GIPC1 GIPC PDZ domain containing family, member 1 C19orf3, GIPC, GLUT1CBP, Hs.6454, NIP, RGS19IP1, SEMCAP, SYNECTIN, TIP-2 Yes No Comparative Toxicogenomics Database:10755, Ensembl:ENSG00000123159, GenAtlas:GIPC1, GeneCard:GIPC1, HGNC:HGNC:1226, HumanCyc Gene:HS04636, ModBase:O14908, NCBI Gene:10755, OMIM:605072, RefSeq DNA:NT_011295, RefSeq Protein:NP_005707, RefSeq Protein:NP_974196, RefSeq Protein:NP_974197, RefSeq Protein:NP_974198, RefSeq Protein:NP_974199, RefSeq Protein:NP_974223, RefSeq RNA:NM_005716, RefSeq RNA:NM_202467, RefSeq RNA:NM_202468, RefSeq RNA:NM_202469, RefSeq RNA:NM_202470, RefSeq RNA:NM_202494, UCSC Genome Browser:NM_005716, UniProtKB:A6NL98, UniProtKB:O14908 No chr19 14588571 14606961 14477759 14496149 +PA142671735 54810 HGNC:18177 ENSG00000137960 GIPC PDZ domain containing family member 2 GIPC2 """GIPC PDZ domain containing family, member 2"", ""semaphorin cytoplasmic domain associated protein 2""" FLJ20075, SEMCAP-2 Yes No Comparative Toxicogenomics Database:54810, Ensembl:ENSG00000137960, GeneCard:GIPC2, HGNC:HGNC:18177, HumanCyc Gene:HS06426, ModBase:Q8TF65, NCBI Gene:54810, RefSeq DNA:NT_032977, RefSeq Protein:NP_060125, RefSeq RNA:NM_017655, UniProtKB:Q8TF65 No chr1 78510646 78604129 78044962 78138449 +PA142671736 126326 HGNC:18183 ENSG00000179855 GIPC PDZ domain containing family member 3 GIPC3 GIPC PDZ domain containing family, member 3 C19orf64, DFNB15, DFNB72, DFNB95 Yes No Ensembl:ENSG00000179855, GeneCard:GIPC3, HGNC:HGNC:18183, HumanCyc Gene:HS02711, ModBase:Q8TF64, NCBI Gene:126326, OMIM:608792, RefSeq DNA:NT_011255, RefSeq Protein:NP_573568, RefSeq RNA:NM_133261, UniProtKB:Q8TF64 No chr19 3585557 3593539 3585531 3593541 +PA28682 2696 HGNC:4271 ENSG00000010310 gastric inhibitory polypeptide receptor GIPR Yes Yes Ensembl:ENSG00000010310, GenAtlas:GIPR, GeneCard:GIPR, HGNC:HGNC:4271, HumanCyc Gene:HS00281, IUPHAR Receptor:248, ModBase:P48546, NCBI Gene:2696, OMIM:137241, RefSeq DNA:NT_011109, RefSeq Protein:NP_000155, RefSeq RNA:NM_000164, UCSC Genome Browser:NM_000164, UniProtKB:P48546, UniProtKB:Q4VBP1 No chr19 46171490 46185717 45668187 45683724 +PA28683 28964 HGNC:4272 ENSG00000108262 GIT ArfGAP 1 GIT1 G protein-coupled receptor kinase interacting ArfGAP 1 Yes No Ensembl:ENSG00000108262, GenAtlas:GIT1, GeneCard:GIT1, HGNC:HGNC:4272, HumanCyc Gene:HS03077, ModBase:Q9Y2X7, NCBI Gene:28964, OMIM:608434, RefSeq DNA:NT_010799, RefSeq Protein:NP_001078923, RefSeq Protein:NP_054749, RefSeq RNA:NM_001085454, RefSeq RNA:NM_014030, UCSC Genome Browser:NM_014030, UniProtKB:B4DGU9, UniProtKB:Q59FC3, UniProtKB:Q9Y2X7 No chr17 27900487 27916610 29573469 29589592 +PA28684 9815 HGNC:4273 ENSG00000139436 GIT ArfGAP 2 GIT2 G protein-coupled receptor kinase interacting ArfGAP 2, Paxillin kinase linker KIAA0148, PKL Yes No Comparative Toxicogenomics Database:9815, Ensembl:ENSG00000139436, GenAtlas:GIT2, GeneCard:GIT2, HGNC:HGNC:4273, HumanCyc Gene:HS06619, ModBase:Q14161, NCBI Gene:9815, OMIM:608564, RefSeq DNA:NT_009775, RefSeq Protein:NP_001128685, RefSeq Protein:NP_001128686, RefSeq Protein:NP_055591, RefSeq Protein:NP_476510, RefSeq Protein:NP_476511, RefSeq Protein:NP_631940, RefSeq RNA:NM_001135213, RefSeq RNA:NM_001135214, RefSeq RNA:NM_014776, RefSeq RNA:NM_057169, RefSeq RNA:NM_057170, RefSeq RNA:NM_139201, UCSC Genome Browser:NM_014776, UniProtKB:Q14161, UniProtKB:Q6FI58 No chr12 110367607 110434194 109929792 109996389 +PA28685 2697 HGNC:4274 ENSG00000152661 gap junction protein alpha 1 GJA1 """connexin 43"", ""gap junction protein, alpha 1, 43kDa"", ""oculodentodigital dysplasia (syndactyly type III)""" CX43, GJAL, ODD, ODDD, ODOD, SDTY3 Yes Yes Comparative Toxicogenomics Database:2697, Ensembl:ENSG00000152661, GenAtlas:GJA1, GeneCard:GJA1, HGNC:HGNC:4274, HumanCyc Gene:HS07842, ModBase:P17302, NCBI Gene:2697, OMIM:121014, OMIM:164200, OMIM:186100, OMIM:234100, OMIM:241550, OMIM:257850, OMIM:600309, RefSeq DNA:NG_008308, RefSeq DNA:NT_025741, RefSeq Protein:NP_000156, RefSeq RNA:NM_000165, UCSC Genome Browser:NM_000165, UniProtKB:P17302 No chr6 121756745 121770873 121435577 121449744 +PA164741581 84694 HGNC:16995 ENSG00000135355 gap junction protein alpha 10 GJA10 """connexin 62"", ""gap junction protein, alpha 10, 62kDa""" CX62 Yes No Ensembl:ENSG00000135355, GeneCard:GJA10, HGNC:HGNC:16995, HumanCyc Gene:HS05986, ModBase:Q969M2, NCBI Gene:84694, OMIM:611924, RefSeq DNA:NT_007299, RefSeq Protein:NP_115991, RefSeq RNA:NM_032602, UniProtKB:Q969M2 No chr6 90604188 90605819 89894469 89896100 +PA28686 2698 HGNC:4275 ENSG00000176857 gap junction protein, alpha 1, 43kDa pseudogene 1 GJA1P1 Yes No Ensembl:ENSG00000176857, GenAtlas:GJA1P1, GeneCard:GJA1P1, HGNC:HGNC:4275, NCBI Gene:2698, RefSeq DNA:NG_003029, RefSeq DNA:NT_034772 No chr5 108385283 108388368 109049582 109052667 +PA28688 2700 HGNC:4277 ENSG00000121743 gap junction protein alpha 3 GJA3 """connexin 46"", ""gap junction protein, alpha 3, 46kDa""" CX46, CZP3 Yes No Comparative Toxicogenomics Database:2700, Ensembl:ENSG00000121743, GenAtlas:GJA3, GeneCard:GJA3, HGNC:HGNC:4277, HumanCyc Gene:HS04517, NCBI Gene:2700, OMIM:121015, OMIM:601885, RefSeq DNA:NG_016399, RefSeq DNA:NT_024524, RefSeq Protein:NP_068773, RefSeq RNA:NM_021954, UCSC Genome Browser:NM_021954 No chr13 20712394 20735524 20138252 20161327 +PA28689 2701 HGNC:4278 ENSG00000187513 gap junction protein alpha 4 GJA4 """connexin 37"", ""gap junction protein, alpha 4, 37kDa""" CX37 Yes No Comparative Toxicogenomics Database:2701, Ensembl:ENSG00000187513, GenAtlas:GJA4, GeneCard:GJA4, HGNC:HGNC:4278, ModBase:P35212, NCBI Gene:2701, OMIM:121012, RefSeq DNA:NT_032977, RefSeq Protein:NP_002051, RefSeq RNA:NM_002060, UCSC Genome Browser:NM_002060, UniProtKB:P35212 No chr1 35258559 35261351 34792958 34795747 +PA28690 2702 HGNC:4279 ENSG00000265107 gap junction protein alpha 5 GJA5 """connexin 40"", ""gap junction protein, alpha 5, 40kDa""" CX40 Yes No Comparative Toxicogenomics Database:2702, Ensembl:ENSG00000265107, GenAtlas:GJA5, GeneCard:GJA5, HGNC:HGNC:4279, HumanCyc Gene:HS06989, ModBase:P36382, NCBI Gene:2702, OMIM:108770, OMIM:121013, OMIM:608583, RefSeq DNA:NG_009369, RefSeq DNA:NT_167185, RefSeq Protein:NP_005257, RefSeq Protein:NP_859054, RefSeq RNA:NM_005266, RefSeq RNA:NM_181703, UCSC Genome Browser:NM_005266, UniProtKB:P36382 No chr1 147228332 147253165 147756199 147781127 +PA28692 2703 HGNC:4281 ENSG00000121634 gap junction protein alpha 8 GJA8 """connexin 50"", ""gap junction protein, alpha 8, 50kDa""" CAE, CAE1, CX50, CZP1 Yes No Comparative Toxicogenomics Database:2703, Ensembl:ENSG00000121634, GenAtlas:GJA8, GeneCard:GJA8, HGNC:HGNC:4281, HumanCyc Gene:HS04508, ModBase:P48165, NCBI Gene:2703, OMIM:116150, OMIM:116200, OMIM:600897, RefSeq DNA:NG_016242, RefSeq DNA:NT_167185, RefSeq Protein:NP_005258, RefSeq RNA:NM_005267, UCSC Genome Browser:NM_005267, UniProtKB:P48165 No chr1 147374946 147381396 147902820 147915287 +PA164741587 81025 HGNC:19155 ENSG00000131233 gap junction protein alpha 9 GJA9 """connexin 59"", ""gap junction protein, alpha 9, 59kDa""" CX58, CX59, GJA10 Yes No Ensembl:ENSG00000131233, GeneCard:GJA9, HGNC:HGNC:19155, HumanCyc Gene:HS05503, ModBase:P57773, NCBI Gene:81025, OMIM:611923, RefSeq DNA:NT_032977, RefSeq Protein:NP_110399, RefSeq RNA:NM_030772, UniProtKB:P57773 No chr1 39339739 39347298 38874067 38881626 +PA28694 2705 HGNC:4283 ENSG00000169562 gap junction protein beta 1 GJB1 """Charcot-Marie-Tooth neuropathy, X-linked"", ""connexin 32"", ""gap junction protein, beta 1, 32kDa""" CMTX, CMTX1, CX32 Yes No Comparative Toxicogenomics Database:2705, Ensembl:ENSG00000169562, GenAtlas:GJB1, GeneCard:GJB1, HGNC:HGNC:4283, HumanCyc Gene:HS09967, ModBase:P08034, NCBI Gene:2705, OMIM:302800, OMIM:304040, RefSeq DNA:NG_008357, RefSeq DNA:NT_011669, RefSeq Protein:NP_000157, RefSeq Protein:NP_001091111, RefSeq RNA:NM_000166, RefSeq RNA:NM_001097642, UCSC Genome Browser:NM_000166, UniProtKB:P08034 No chrX 70435062 70445065 71215212 71225215 +PA28695 2706 HGNC:4284 ENSG00000165474 gap junction protein beta 2 GJB2 """connexin 26"", ""gap junction protein, beta 2, 26kDa""" CX26, DFNA3, DFNB1, NSRD1 Yes No Comparative Toxicogenomics Database:2706, Ensembl:ENSG00000165474, GenAtlas:GJB2, GeneCard:GJB2, HGNC:HGNC:4284, HumanCyc Gene:HS09236, NCBI Gene:2706, OMIM:121011, OMIM:124500, OMIM:148210, OMIM:148350, OMIM:149200, OMIM:220290, OMIM:601544, OMIM:602540, RefSeq DNA:NG_008358, RefSeq DNA:NT_024524, RefSeq Protein:NP_003995, RefSeq RNA:NM_004004, UCSC Genome Browser:NM_004004, UniProtKB:P29033 No chr13 20761602 20768605 20187463 20192975 +PA28696 2707 HGNC:4285 ENSG00000188910 gap junction protein beta 3 GJB3 """connexin 31"", ""gap junction protein, beta 3, 31kDa""" CX31, DFNA2, EKV Yes No Comparative Toxicogenomics Database:2707, Ensembl:ENSG00000188910, GenAtlas:GJB3, GeneCard:GJB3, HGNC:HGNC:4285, ModBase:O75712, NCBI Gene:2707, OMIM:133200, OMIM:220290, OMIM:600101, OMIM:603324, OMIM:612644, RefSeq DNA:NG_008309, RefSeq DNA:NT_032977, RefSeq Protein:NP_001005752, RefSeq Protein:NP_076872, RefSeq RNA:NM_001005752, RefSeq RNA:NM_024009, UCSC Genome Browser:NM_024009, UniProtKB:O75712 No chr1 35246790 35251967 34781189 34786366 +PA28697 127534 HGNC:4286 ENSG00000189433 gap junction protein beta 4 GJB4 """connexin 30.3"", ""gap junction protein, beta 4, 30.3kDa""" CX30.3 Yes No Comparative Toxicogenomics Database:127534, Ensembl:ENSG00000189433, GenAtlas:GJB4, GeneCard:GJB4, HGNC:HGNC:4286, ModBase:Q9NTQ9, NCBI Gene:127534, OMIM:133200, OMIM:605425, RefSeq DNA:NG_016243, RefSeq DNA:NT_032977, RefSeq Protein:NP_694944, RefSeq RNA:NM_153212, UCSC Genome Browser:NM_153212, UniProtKB:Q9NTQ9 No chr1 35225342 35229325 34759741 34763724 +PA28698 2709 HGNC:4287 ENSG00000189280 gap junction protein beta 5 GJB5 """connexin 31.1"", ""gap junction protein, beta 5, 31.1kDa""" CX31.1 Yes No Comparative Toxicogenomics Database:2709, Ensembl:ENSG00000189280, GenAtlas:GJB5, GeneCard:GJB5, HGNC:HGNC:4287, ModBase:O95377, NCBI Gene:2709, OMIM:604493, RefSeq DNA:NT_032977, RefSeq Protein:NP_005259, RefSeq RNA:NM_005268, UCSC Genome Browser:NM_005268, UniProtKB:O95377 No chr1 35220648 35224113 34754777 34758513 +PA28699 10804 HGNC:4288 ENSG00000121742 gap junction protein beta 6 GJB6 """connexin 30"", ""gap junction protein, beta 6, 30kDa""" CX30, DFNA3, ED2, EDH, HED Yes No Comparative Toxicogenomics Database:10804, Ensembl:ENSG00000121742, GenAtlas:GJB6, GeneCard:GJB6, HGNC:HGNC:4288, HumanCyc Gene:HS04516, NCBI Gene:10804, OMIM:129500, OMIM:220290, OMIM:601544, OMIM:604418, OMIM:612643, OMIM:612645, RefSeq DNA:NG_008323, RefSeq DNA:NT_024524, RefSeq Protein:NP_001103689, RefSeq Protein:NP_001103690, RefSeq Protein:NP_001103691, RefSeq Protein:NP_006774, RefSeq RNA:NM_001110219, RefSeq RNA:NM_001110220, RefSeq RNA:NM_001110221, RefSeq RNA:NM_006783, UCSC Genome Browser:NM_006783, UniProtKB:O95452 No chr13 20796101 20806534 20221962 20232395 +PA134949515 375519 HGNC:16690 ENSG00000164411 gap junction protein beta 7 GJB7 """connexin 25"", ""gap junction protein, beta 7, 25kDa""" CX25, bA136M9.1 Yes No Ensembl:ENSG00000164411, GeneCard:GJB7, HGNC:HGNC:16690, ModBase:Q6PEY0, NCBI Gene:375519, OMIM:611921, RefSeq DNA:NT_007299, RefSeq Protein:NP_940970, RefSeq RNA:NM_198568, UniProtKB:Q6PEY0 No chr6 87992696 88038996 87282978 87329278 +PA164741588 10052 HGNC:4280 ENSG00000182963 gap junction protein gamma 1 GJC1 """connexin 45"", ""gap junction protein, gamma 1, 45kDa""" CX45, GJA7 Yes No Ensembl:ENSG00000182963, GeneCard:GJC1, HGNC:HGNC:4280, ModBase:P36383, NCBI Gene:10052, OMIM:608655, RefSeq DNA:NT_010783, RefSeq Protein:NP_001073852, RefSeq Protein:NP_005488, RefSeq RNA:NM_001080383, RefSeq RNA:NM_005497, UniProtKB:P36383 No chr17 42875816 42908179 44794988 44830811 +PA162389696 57165 HGNC:17494 ENSG00000198835 gap junction protein gamma 2 GJC2 """connexin 47"", ""gap junction protein, gamma 2, 47kDa""" CX46.6, CX47, GJA12, SPG44 Yes No Ensembl:ENSG00000198835, GeneCard:GJC2, HGNC:HGNC:17494, ModBase:Q5T442, NCBI Gene:57165, OMIM:608803, OMIM:608804, RefSeq DNA:NG_011838, RefSeq DNA:NT_167186, RefSeq Protein:NP_065168, RefSeq RNA:NM_020435, UniProtKB:Q5T442 No chr1 228337415 228347527 228149714 228159826 +PA162389705 349149 HGNC:17495 ENSG00000176402 gap junction protein gamma 3 GJC3 """connexin 30.2"", ""gap junction protein, gamma 3, 30.2kDa""" CX29, CX30.2, GJE1 Yes No Ensembl:ENSG00000176402, GeneCard:GJC3, HGNC:HGNC:17495, NCBI Gene:349149, OMIM:611925, RefSeq DNA:NG_016852, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_853516, RefSeq RNA:NM_181538, UniProtKB:Q8NFK1 No chr7 99520892 99531833 99923269 99929620 +PA162389706 57369 HGNC:19154 ENSG00000159248 gap junction protein delta 2 GJD2 """connexin 36"", ""gap junction protein, delta 2, 36kDa""" CX36, GJA9 Yes No Ensembl:ENSG00000159248, GeneCard:GJD2, HGNC:HGNC:19154, HumanCyc Gene:HS08380, ModBase:Q9UKL4, NCBI Gene:57369, OMIM:607058, RefSeq DNA:NT_010194, RefSeq Protein:NP_065711, RefSeq RNA:NM_020660, UniProtKB:Q9UKL4 No chr15 35044642 35046782 34751746 34754955 +PA162389707 125111 HGNC:19147 ENSG00000183153 gap junction protein delta 3 GJD3 """connexin 31.9"", ""gap junction protein, delta 3, 31.9kDa""" CX31.9, Cx30.2, GJA11, GJC1 Yes No Ensembl:ENSG00000183153, GeneCard:GJD3, HGNC:HGNC:19147, ModBase:Q8N144, NCBI Gene:125111, OMIM:607425, RefSeq DNA:NT_010783, RefSeq Protein:NP_689343, RefSeq RNA:NM_152219, UniProtKB:Q8N144 No chr17 38516904 38520945 40360652 40364693 +PA162389714 219770 HGNC:23296 ENSG00000177291 gap junction protein delta 4 GJD4 """connexin 40.1"", ""gap junction protein, delta 4, 40.1kDa""" CX40.1, FLJ90023 Yes No Ensembl:ENSG00000177291, GeneCard:GJD4, HGNC:HGNC:23296, HumanCyc Gene:HS11151, ModBase:Q96KN9, NCBI Gene:219770, OMIM:611922, RefSeq DNA:NT_008705, RefSeq Protein:NP_699199, RefSeq RNA:NM_153368, UniProtKB:Q96KN9 No chr10 35894338 35897863 35605410 35608935 +PA164741599 100126572 HGNC:33251 ENSG00000203733 gap junction protein epsilon 1 GJE1 gap junction protein, epsilon 1, 23kDa CX23 Yes No Ensembl:ENSG00000203733, GeneCard:GJE1, HGNC:HGNC:33251, NCBI Gene:100126572 No chr6 +PA28700 2710 HGNC:4289 ENSG00000198814 glycerol kinase GK GK1, GKD Yes No Comparative Toxicogenomics Database:2710, Ensembl:ENSG00000198814, GenAtlas:GK, GeneCard:GK, HGNC:HGNC:4289, HumanCyc Gene:HS09760, ModBase:P32189, NCBI Gene:2710, OMIM:300474, OMIM:307030, RefSeq DNA:NG_008178, RefSeq DNA:NT_167197, RefSeq Protein:NP_000158, RefSeq Protein:NP_001121599, RefSeq Protein:NP_001191948, RefSeq Protein:NP_976325, RefSeq RNA:NM_000167, RefSeq RNA:NM_001128127, RefSeq RNA:NM_001205019, RefSeq RNA:NM_203391, UCSC Genome Browser:NM_000167, UniProtKB:A6NJP5, UniProtKB:P32189, UniProtKB:Q6IQ27 No chrX 30671476 30749579 30653348 30731462 +PA28702 2712 HGNC:4291 ENSG00000196475 glycerol kinase 2 GK2 GKP2, GKTA Yes No Ensembl:ENSG00000196475, GeneCard:GK2, HGNC:HGNC:4291, HumanCyc Gene:HS08823, ModBase:Q14410, NCBI Gene:2712, OMIM:600148, RefSeq DNA:NT_016354, RefSeq Protein:NP_149991, RefSeq RNA:NM_033214, UCSC Genome Browser:NM_033214, UniProtKB:Q14410 No chr4 80327507 80329372 79406353 79408218 +PA28703 2713 HGNC:4292 ENSG00000229894 glycerol kinase 3 GK3 glycerol kinase 3 pseudogene GK3P, GKP3, GKTB Yes No Ensembl:ENSG00000229894, GenAtlas:GKP3, GeneCard:GK3P, HGNC:HGNC:4292, ModBase:Q14409, NCBI Gene:2713, OMIM:600149, RefSeq DNA:NG_000861, RefSeq DNA:NT_016354, RefSeq RNA:NR_026575, UniProtKB:Q14409 No chr4 166198944 166201175 165277792 165280023 +PA28706 2716 HGNC:4295 ENSG00000178146 glycerol kinase 4 pseudogene GK4P Yes No Ensembl:ENSG00000178146, GenAtlas:GKP6, GeneCard:GK4P, HGNC:HGNC:4295, NCBI Gene:2716, RefSeq DNA:NG_001127, RefSeq DNA:NT_011651 No chrX 101033439 101035626 101778466 101780653 +PA162389723 256356 HGNC:28635 ENSG00000175066 glycerol kinase 5 GK5 glycerol kinase 5 (putative) MGC40579 Yes No Ensembl:ENSG00000175066, GeneCard:GK5, HGNC:HGNC:28635, HumanCyc Gene:HS10873, ModBase:Q6ZS86, NCBI Gene:256356, RefSeq DNA:NT_005612, RefSeq Protein:NP_001034636, RefSeq RNA:NM_001039547, RefSeq RNA:NR_033289, UniProtKB:Q6ZS86 No chr3 141876369 141944449 142157527 142225607 +PA134880503 80318 HGNC:17496 ENSG00000165113 G kinase anchoring protein 1 GKAP1 cGMP-dependent protein kinase anchoring protein 42kDa FKSG21, GKAP42 Yes No Comparative Toxicogenomics Database:80318, Ensembl:ENSG00000165113, GeneCard:GKAP1, HGNC:HGNC:17496, HumanCyc Gene:HS09186, ModBase:Q5VSY0, NCBI Gene:80318, OMIM:611356, RefSeq DNA:NT_008470, RefSeq Protein:NP_001129425, RefSeq Protein:NP_079487, RefSeq RNA:NM_001135953, RefSeq RNA:NM_025211, UniProtKB:Q5VSY0 No chr9 86354336 86444431 83739421 83817837 +PA134898851 56287 HGNC:23217 ENSG00000169605 gastrokine 1 GKN1 BRICHOS domain containing 1 AMP18, BRICD1, CA11 Yes No Ensembl:ENSG00000169605, GeneCard:GKN1, HGNC:HGNC:23217, HumanCyc Gene:HS09977, NCBI Gene:56287, OMIM:606402, RefSeq DNA:NT_022184, RefSeq Protein:NP_062563, RefSeq RNA:NM_019617, UniProtKB:Q53YU7, UniProtKB:Q9NS71 No chr2 69201705 69208112 68974573 68980980 +PA162389760 200504 HGNC:24588 ENSG00000183607 gastrokine 2 GKN2 BRICHOS domain containing 1B, down regulated in gastric cancer GDDR BRICD1B, GDDR, PRO813, TFIZ1, VLTI465, blottin Yes No Ensembl:ENSG00000183607, GeneCard:GKN2, HGNC:HGNC:24588, NCBI Gene:200504, RefSeq DNA:NT_022184, RefSeq Protein:NP_872342, RefSeq RNA:NM_182536, UniProtKB:Q86XP6 No chr2 69172364 69180102 68945232 68952970 +PA28707 2717 HGNC:4296 ENSG00000102393 galactosidase alpha GLA galactosidase, alpha GALA Yes Yes Comparative Toxicogenomics Database:2717, Ensembl:ENSG00000102393, GenAtlas:GLA, GeneCard:GLA, HGNC:HGNC:4296, HumanCyc Gene:HS02389, ModBase:P06280, NCBI Gene:2717, OMIM:300644, OMIM:301500, RefSeq DNA:NG_007119, RefSeq DNA:NT_011651, RefSeq Protein:NP_000160, RefSeq RNA:NM_000169, UCSC Genome Browser:NM_000169, UniProtKB:P06280, UniProtKB:Q53Y83 No chrX 100652779 100663001 101397791 101408013 +PA28709 2720 HGNC:4298 ENSG00000170266 galactosidase beta 1 GLB1 """elastin binding protein"", ""galactosidase, beta 1""" EBP, ELNR1 Yes No Comparative Toxicogenomics Database:2720, Ensembl:ENSG00000170266, GenAtlas:GLB1, GeneCard:GLB1, HGNC:HGNC:4298, HumanCyc Gene:HS10092, ModBase:P16278, ModBase:P16279, NCBI Gene:2720, OMIM:230500, OMIM:230600, OMIM:230650, OMIM:253010, OMIM:611458, RefSeq DNA:NG_009005, RefSeq DNA:NT_022517, RefSeq Protein:NP_000395, RefSeq Protein:NP_001073279, RefSeq Protein:NP_001129074, RefSeq RNA:NM_000404, RefSeq RNA:NM_001079811, RefSeq RNA:NM_001135602, UCSC Genome Browser:NM_000404, UniProtKB:P16278 No chr3 33038100 33138694 32996608 33097230 +PA134885559 79411 HGNC:28129 ENSG00000163521 galactosidase beta 1 like GLB1L galactosidase, beta 1-like MGC10771 Yes No Ensembl:ENSG00000163521, GeneCard:GLB1L, HGNC:HGNC:28129, HumanCyc Gene:HS08870, ModBase:Q6UWU2, NCBI Gene:79411, RefSeq DNA:NT_005403, RefSeq Protein:NP_078782, RefSeq RNA:NM_024506, UniProtKB:Q6UWU2 No chr2 220101331 220110155 219236598 219245429 +PA162389761 89944 HGNC:25129 ENSG00000149328 galactosidase beta 1 like 2 GLB1L2 galactosidase, beta 1-like 2 Yes No Ensembl:ENSG00000149328, GeneCard:GLB1L2, HGNC:HGNC:25129, HumanCyc Gene:HS07605, ModBase:Q8IW92, NCBI Gene:89944, RefSeq DNA:NT_033899, RefSeq Protein:NP_612351, RefSeq RNA:NM_138342, UniProtKB:Q8IW92 No chr11 134201768 134246222 134331874 134376324 +PA145148764 112937 HGNC:25147 ENSG00000166105 galactosidase beta 1 like 3 GLB1L3 galactosidase, beta 1-like 3 FLJ90231 Yes No Ensembl:ENSG00000166105, GeneCard:GLB1L3, HGNC:HGNC:25147, ModBase:Q8NCI6, NCBI Gene:112937, RefSeq DNA:NT_033899, RefSeq Protein:NP_001073876, RefSeq RNA:NM_001080407, UniProtKB:Q8NCI6 No chr11 134145293 134189458 134275447 134321364 +PA38657 113263 HGNC:18713 ENSG00000106415 glucocorticoid induced 1 GLCCI1 glucocorticoid induced transcript 1 FAM117C, GIG18, TSSN1 Yes Yes Comparative Toxicogenomics Database:113263, Ensembl:ENSG00000106415, GenAtlas:GLCCI1, GeneCard:GLCCI1, HGNC:HGNC:18713, HumanCyc Gene:HS12630, ModBase:Q86VQ1, NCBI Gene:113263, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_612435, RefSeq RNA:NM_138426, UniProtKB:Q86VQ1 No chr7 8008374 8128710 7968743 8089080 +PA145148750 26035 HGNC:17855 ENSG00000138604 glucuronic acid epimerase GLCE heparan sulfate epimerase HSEPI, KIAA0836 Yes No Ensembl:ENSG00000138604, GeneCard:GLCE, HGNC:HGNC:17855, HumanCyc Gene:HS11947, NCBI Gene:26035, OMIM:612134, RefSeq DNA:NT_010194, RefSeq Protein:NP_056369, RefSeq RNA:NM_015554, UniProtKB:B3KML4, UniProtKB:O94923 No chr15 69452921 69564546 69160555 69272209 +PA28716 2731 HGNC:4313 ENSG00000178445 glycine decarboxylase GLDC glycine cleavage system protein P, glycine decarboxylase, glycine dehydrogenase, glycine dehydrogenase (decarboxylating), nonketotic hyperglycinemia GCSP, NKH Yes Yes Comparative Toxicogenomics Database:2731, Ensembl:ENSG00000178445, GenAtlas:GLDC, GeneCard:GLDC, HGNC:HGNC:4313, HumanCyc Gene:HS00622, ModBase:P23378, NCBI Gene:2731, OMIM:238300, OMIM:605899, RefSeq DNA:NG_016397, RefSeq DNA:NT_008413, RefSeq Protein:NP_000161, RefSeq RNA:NM_000170, UCSC Genome Browser:NM_000170, UniProtKB:P23378 No chr9 6532464 6645692 6532464 6645692 +PA28717 2732 HGNC:4314 ENSG00000248590 glycine dehydrogenase (decarboxylase) pseudogene 1 GLDCP1 Yes No Ensembl:ENSG00000248590, GenAtlas:GLDCP, GeneCard:GLDCP1, HGNC:HGNC:4314, NCBI Gene:2732, RefSeq DNA:NG_003012, RefSeq DNA:NT_022853 No chr4 57458631 57462431 56592465 56596265 +PA134882405 342035 HGNC:29514 ENSG00000186417 gliomedin GLDN CLOM, COLM, CRG-L2, UNC-112, UNC-122, colmedin Yes No Ensembl:ENSG00000186417, GeneCard:GLDN, HGNC:HGNC:29514, ModBase:Q6ZMI3, NCBI Gene:342035, OMIM:608603, RefSeq DNA:NT_010194, RefSeq Protein:NP_861454, RefSeq RNA:NM_181789, UniProtKB:Q6ZMI3 No chr15 51633713 51700210 51341516 51413365 +PA28718 2733 HGNC:4315 ENSG00000119392 GLE1 RNA export mediator GLE1 """GLE1 RNA export mediator"", ""GLE1 RNA export mediator homolog (yeast)"", ""GLE1, RNA export mediator""" GLE1L, LCCS1, hGLE1 Yes No Comparative Toxicogenomics Database:2733, Ensembl:ENSG00000119392, GenAtlas:GLE1L, GeneCard:GLE1, GeneCard:GLE1L, HGNC:HGNC:4315, HumanCyc Gene:HS04287, NCBI Gene:2733, OMIM:253310, OMIM:603371, OMIM:611890, RefSeq DNA:NG_012073, RefSeq DNA:NT_008470, RefSeq Protein:NP_001003722, RefSeq Protein:NP_001490, RefSeq RNA:NM_001003722, RefSeq RNA:NM_001499, UCSC Genome Browser:NM_001499, UniProtKB:B3KMG0, UniProtKB:Q53GS7 No chr9 131266971 131304580 128504692 128542301 +PA28719 2734 HGNC:4316 ENSG00000090863 golgi glycoprotein 1 GLG1 CFR-1, ESL-1, MG-160 Yes No Comparative Toxicogenomics Database:2734, Ensembl:ENSG00000090863, GenAtlas:GLG1, GeneCard:GLG1, HGNC:HGNC:4316, HumanCyc Gene:HS01707, NCBI Gene:2734, OMIM:600753, RefSeq DNA:NT_010498, RefSeq Protein:NP_001139138, RefSeq Protein:NP_001139139, RefSeq Protein:NP_036333, RefSeq RNA:NM_001145666, RefSeq RNA:NM_001145667, RefSeq RNA:NM_012201, RefSeq RNA:NR_027264, RefSeq RNA:NR_027265, UCSC Genome Browser:NM_012201, UniProtKB:B7Z8Y4, UniProtKB:Q92896 No chr16 74481325 74641042 74447427 74607144 +PA28720 2735 HGNC:4317 ENSG00000111087 GLI family zinc finger 1 GLI1 GLI Yes Yes Comparative Toxicogenomics Database:2735, Ensembl:ENSG00000111087, GenAtlas:GLI1, GeneCard:GLI1, HGNC:HGNC:4317, HumanCyc Gene:HS03368, ModBase:P08151, NCBI Gene:2735, OMIM:165220, RefSeq DNA:NT_029419, RefSeq Protein:NP_001153517, RefSeq Protein:NP_001161081, RefSeq Protein:NP_005260, RefSeq RNA:NM_001160045, RefSeq RNA:NM_001167609, RefSeq RNA:NM_005269, UCSC Genome Browser:NM_005269, UniProtKB:B4DNF7, UniProtKB:P08151 No chr12 57853918 57866051 57460135 57472268 +PA28721 2736 HGNC:4318 ENSG00000074047 GLI family zinc finger 2 GLI2 tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein HPE9, THP1, THP2 Yes No Comparative Toxicogenomics Database:2736, Ensembl:ENSG00000074047, GenAtlas:GLI2, GeneCard:GLI2, HGNC:HGNC:4318, HumanCyc Gene:HS01125, ModBase:P10070, NCBI Gene:2736, OMIM:165230, OMIM:610829, RefSeq DNA:NG_009030, RefSeq DNA:NT_022135, RefSeq Protein:NP_005261, RefSeq RNA:NM_005270, UCSC Genome Browser:NM_005270, UniProtKB:P10070, UniProtKB:Q1PSW9, UniProtKB:Q59FV5 No chr2 121493441 121750229 120797291 120992653 +PA28722 2737 HGNC:4319 ENSG00000106571 GLI family zinc finger 3 GLI3 DNA-binding protein, oncogene GLI3, zinc finger protein GLI3 ACLS, GCPS, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV Yes No Comparative Toxicogenomics Database:2737, Ensembl:ENSG00000106571, GenAtlas:GLI3, GeneCard:GLI3, HGNC:HGNC:4319, HumanCyc Gene:HS02924, ModBase:P10071, NCBI Gene:2737, OMIM:146510, OMIM:165240, OMIM:174200, OMIM:174700, OMIM:175700, OMIM:200990, OMIM:241800, RefSeq DNA:NG_008434, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000159, RefSeq RNA:NM_000168, UCSC Genome Browser:NM_000168, UniProtKB:P10071 No chr7 42000547 42277469 41960949 42237019 +PA28723 2738 HGNC:4320 ENSG00000250571 GLI family zinc finger 4 GLI4 HKR4, ZNF928 Yes No Ensembl:ENSG00000250571, GenAtlas:GLI4, GeneCard:GLI4, HGNC:HGNC:4320, HumanCyc Gene:HS11640, ModBase:P10075, NCBI Gene:2738, OMIM:165280, RefSeq DNA:NT_008046, RefSeq Protein:NP_612474, RefSeq RNA:NM_138465, UCSC Genome Browser:NM_138465, UniProtKB:P10075 No chr8 144333524 144359101 143267437 143276931 +PA134988403 11010 HGNC:17001 ENSG00000139278 GLI pathogenesis related 1 GLIPR1 GLI pathogenesis-related 1 GliPR, RTVP1 Yes No Comparative Toxicogenomics Database:11010, Ensembl:ENSG00000139278, GeneCard:GLIPR1, HGNC:HGNC:17001, HumanCyc Gene:HS06602, ModBase:P48060, NCBI Gene:11010, OMIM:602692, RefSeq DNA:NT_029419, RefSeq Protein:NP_006842, RefSeq RNA:NM_006851, UniProtKB:P48060 No chr12 75874513 75895716 75480733 75501936 +PA145008265 256710 HGNC:28392 ENSG00000173401 GLIPR1 like 1 GLIPR1L1 GLI pathogenesis-related 1 like 1 MGC26856 Yes No Ensembl:ENSG00000173401, GeneCard:GLIPR1L1, HGNC:HGNC:28392, HumanCyc Gene:HS10658, NCBI Gene:256710, OMIM:610395, RefSeq DNA:NT_029419, RefSeq Protein:NP_689992, RefSeq RNA:NM_152779, UniProtKB:Q6UWM5 No chr12 75727550 75764170 75331834 75370390 +PA145008279 144321 HGNC:28592 ENSG00000180481 GLIPR1 like 2 GLIPR1L2 GLI pathogenesis-related 1 like 2 MGC39497 Yes No Ensembl:ENSG00000180481, GeneCard:GLIPR1L2, HGNC:HGNC:28592, HumanCyc Gene:HS11500, NCBI Gene:144321, OMIM:610394, RefSeq DNA:NT_029419, RefSeq Protein:NP_689649, RefSeq RNA:NM_152436, UniProtKB:Q4G1C9 No chr12 75784850 75826468 75391070 75432688 +PA164720283 152007 HGNC:18007 ENSG00000122694 GLI pathogenesis related 2 GLIPR2 GLI pathogenesis-related 2 C9orf19, GAPR-1 Yes No Ensembl:ENSG00000122694, GeneCard:GLIPR2, HGNC:HGNC:18007, HumanCyc Gene:HS04591, ModBase:Q9H4G4, NCBI Gene:152007, OMIM:607141, RefSeq DNA:NT_008413, RefSeq Protein:NP_071738, RefSeq RNA:NM_022343, UniProtKB:Q9H4G4 No chr9 36136730 36163910 36136536 36163913 +PA134948186 148979 HGNC:29525 ENSG00000174332 GLIS family zinc finger 1 GLIS1 Gli-similar 1 FLJ36155 Yes No Ensembl:ENSG00000174332, GeneCard:GLIS1, HGNC:HGNC:29525, HumanCyc Gene:HS16322, ModBase:Q8NBF1, NCBI Gene:148979, OMIM:610378, RefSeq DNA:NT_032977, RefSeq Protein:NP_671726, RefSeq RNA:NM_147193, UniProtKB:Q8NBF1 No chr1 53971904 54203748 53506233 53739171 +PA134919876 84662 HGNC:29450 ENSG00000126603 GLIS family zinc finger 2 GLIS2 Gli-similar 2, nephrocystin-7 NPHP7 Yes No Comparative Toxicogenomics Database:84662, Ensembl:ENSG00000126603, GeneCard:GLIS2, HGNC:HGNC:29450, HumanCyc Gene:HS13209, ModBase:Q9BZE0, NCBI Gene:84662, OMIM:608539, OMIM:611498, RefSeq DNA:NG_016391, RefSeq DNA:NT_010393, RefSeq Protein:NP_115964, RefSeq RNA:NM_032575, UniProtKB:Q9BZE0 No chr16 4366240 4389598 4314761 4339597 +PA134878768 169792 HGNC:28510 ENSG00000107249 GLIS family zinc finger 3 GLIS3 Gli-similar 3 MGC33662, ZNF515 Yes No Comparative Toxicogenomics Database:169792, Ensembl:ENSG00000107249, GeneCard:GLIS3, HGNC:HGNC:28510, HumanCyc Gene:HS12653, NCBI Gene:169792, OMIM:610192, OMIM:610199, RefSeq DNA:NG_011782, RefSeq DNA:NT_008413, RefSeq Protein:NP_001035878, RefSeq Protein:NP_689842, RefSeq RNA:NM_001042413, RefSeq RNA:NM_152629, UniProtKB:Q1PHJ8, UniProtKB:Q8NEA6 No chr9 3824128 4300036 3824127 4310694 +PA134967713 84850 HGNC:28260 ENSG00000237009 GLIS3 antisense RNA 1 GLIS3-AS1 MGC16153 Yes No Ensembl:ENSG00000237009, GeneCard:C9orf70, HGNC:HGNC:28260, NCBI Gene:84850, RefSeq DNA:NT_008413, RefSeq RNA:NR_026663 No chr9 3898646 3901248 3898646 3901248 +PA134870088 11146 HGNC:14373 ENSG00000174842 glomulin, FKBP associated protein GLMN FAP48, FAP68, FKBPAP, GLML, GVM, VMGLOM Yes No Comparative Toxicogenomics Database:11146, Ensembl:ENSG00000174842, GeneCard:GLMN, HGNC:HGNC:14373, HumanCyc Gene:HS10837, ModBase:Q92990, NCBI Gene:11146, OMIM:138000, OMIM:601749, RefSeq DNA:NG_009796, RefSeq DNA:NT_032977, RefSeq Protein:NP_444504, RefSeq RNA:NM_053274, UniProtKB:Q92990 No chr1 92711955 92764566 92245786 92441936 +PA142672533 112770 HGNC:29436 ENSG00000198715 glycosylated lysosomal membrane protein GLMP chromosome 1 open reading frame 85, kidney lysosomal membrane protein, lncRNA up-regulating CDK6 by interacting with DHX9 C1orf85, MGC31963, NCU-G1, lnc-UCID Yes No Ensembl:ENSG00000198715, GeneCard:C1orf85, HGNC:HGNC:29436, NCBI Gene:112770, RefSeq DNA:NT_004487, RefSeq Protein:NP_653181, RefSeq RNA:NM_144580, UniProtKB:Q8WWB7 No chr1 156262478 156265480 156292687 156295689 +PA28724 2739 HGNC:4323 ENSG00000124767 glyoxalase I GLO1 glyoxalase domain containing 1, lactoylglutathione lyase GLOD1 Yes No Comparative Toxicogenomics Database:2739, Ensembl:ENSG00000124767, GenAtlas:GLO1, GeneCard:GLO1, HGNC:HGNC:4323, HumanCyc Gene:HS04829, ModBase:Q04760, NCBI Gene:2739, OMIM:138750, OMIM:209850, RefSeq DNA:NG_012074, RefSeq DNA:NT_007592, RefSeq Protein:NP_006699, RefSeq RNA:NM_006708, UCSC Genome Browser:NM_006708, UniProtKB:Q04760 No chr6 38643701 38670952 38675925 38703176 +PA162389795 51031 HGNC:14111 ENSG00000167699 glyoxalase domain containing 4 GLOD4 C17orf25, CGI-150, HC71 Yes No Ensembl:ENSG00000167699, GeneCard:GLOD4, HGNC:HGNC:14111, HumanCyc Gene:HS09609, ModBase:Q9HC38, NCBI Gene:51031, RefSeq DNA:NT_010718, RefSeq Protein:NP_057164, RefSeq RNA:NM_016080, UniProtKB:Q9HC38 No chr17 662549 685571 759309 782331 +PA162389818 392465 HGNC:33358 ENSG00000171433 glyoxalase domain containing 5 GLOD5 Yes No Ensembl:ENSG00000171433, GeneCard:GLOD5, HGNC:HGNC:33358, ModBase:A6NK44, NCBI Gene:392465, RefSeq DNA:NG_021291, RefSeq DNA:NT_079573, RefSeq Protein:NP_001073958, RefSeq RNA:NM_001080489 No chrX 48620154 48632064 48761572 48773648 +PA28725 2740 HGNC:4324 ENSG00000112164 glucagon like peptide 1 receptor GLP1R glucagon-like peptide 1 receptor GLP-1R Yes Yes Ensembl:ENSG00000112164, GenAtlas:GLP1R, GeneCard:GLP1R, HGNC:HGNC:4324, HumanCyc Gene:HS03526, IUPHAR Receptor:249, ModBase:P43220, NCBI Gene:2740, OMIM:138032, RefSeq DNA:NT_007592, RefSeq Protein:NP_002053, RefSeq RNA:NM_002062, UCSC Genome Browser:NM_002062, UniProtKB:P43220 No chr6 39016557 39056657 39048781 39091303 +PA28726 9340 HGNC:4325 ENSG00000065325 glucagon like peptide 2 receptor GLP2R glucagon-like peptide 2 receptor Yes No Ensembl:ENSG00000065325, GenAtlas:GLP2R, GeneCard:GLP2R, HGNC:HGNC:4325, HumanCyc Gene:HS00837, IUPHAR Receptor:250, ModBase:O95838, NCBI Gene:9340, OMIM:603659, RefSeq DNA:NT_010718, RefSeq Protein:NP_004237, RefSeq RNA:NM_004246, UCSC Genome Browser:NM_004246, UniProtKB:O95838 No chr17 9729152 9794269 9825508 9894163 +PA28727 2741 HGNC:4326 ENSG00000145888 glycine receptor alpha 1 GLRA1 """glycine receptor, alpha 1"", ""startle disease/hyperekplexia"", ""stiff person syndrome""" STHE Yes No Comparative Toxicogenomics Database:2741, Ensembl:ENSG00000145888, GenAtlas:GLRA1, GeneCard:GLRA1, HGNC:HGNC:4326, HumanCyc Gene:HS07298, IUPHAR Receptor:423, ModBase:P23415, NCBI Gene:2741, OMIM:138491, OMIM:149400, RefSeq DNA:NG_011764, RefSeq DNA:NT_029289, RefSeq Protein:NP_000162, RefSeq Protein:NP_001139512, RefSeq RNA:NM_000171, RefSeq RNA:NM_001146040, UCSC Genome Browser:NM_000171, UniProtKB:P23415 No chr5 151202074 151304397 151820798 151924836 +PA28728 2742 HGNC:4327 ENSG00000101958 glycine receptor alpha 2 GLRA2 glycine receptor, alpha 2 GLR Yes No Ensembl:ENSG00000101958, GenAtlas:GLRA2, GeneCard:GLRA2, HGNC:HGNC:4327, HumanCyc Gene:HS02324, IUPHAR Receptor:424, ModBase:P23416, NCBI Gene:2742, OMIM:305990, RefSeq DNA:NG_016459, RefSeq DNA:NT_167197, RefSeq Protein:NP_001112357, RefSeq Protein:NP_001112358, RefSeq Protein:NP_001165413, RefSeq Protein:NP_002054, RefSeq RNA:NM_001118885, RefSeq RNA:NM_001118886, RefSeq RNA:NM_001171942, RefSeq RNA:NM_002063, UCSC Genome Browser:NM_002063, UniProtKB:B7Z4F5, UniProtKB:P23416 No chrX 14547420 14749934 14448779 14731812 +PA28729 8001 HGNC:4328 ENSG00000145451 glycine receptor alpha 3 GLRA3 glycine receptor, alpha 3 Yes No Comparative Toxicogenomics Database:8001, Ensembl:ENSG00000145451, GenAtlas:GLRA3, GeneCard:GLRA3, HGNC:HGNC:4328, HumanCyc Gene:HS07257, IUPHAR Receptor:425, ModBase:O75311, NCBI Gene:8001, OMIM:600421, RefSeq DNA:NT_016354, RefSeq Protein:NP_001036008, RefSeq Protein:NP_006520, RefSeq RNA:NM_001042543, RefSeq RNA:NM_006529, UCSC Genome Browser:NM_006529, UniProtKB:O75311, UniProtKB:Q9UPF3 No chr4 175545367 175750465 174642011 174829568 +PA142671731 441509 HGNC:31715 ENSG00000188828 glycine receptor alpha 4 GLRA4 glycine receptor, alpha 4 Yes No Comparative Toxicogenomics Database:441509, Ensembl:ENSG00000188828, GeneCard:GLRA4, HGNC:HGNC:31715, IUPHAR Receptor:426, NCBI Gene:441509, RefSeq DNA:NG_021199, RefSeq DNA:NT_011651, RefSeq Protein:NP_001019623, RefSeq Protein:NP_001165756, RefSeq RNA:NM_001024452, RefSeq RNA:NM_001172285, UniProtKB:Q5JXX5 No chrX 102962272 102983552 103707344 103728624 +PA28730 2743 HGNC:4329 ENSG00000109738 glycine receptor beta GLRB glycine receptor, beta Yes Yes Comparative Toxicogenomics Database:2743, Ensembl:ENSG00000109738, GenAtlas:GLRB, GeneCard:GLRB, HGNC:HGNC:4329, HumanCyc Gene:HS03253, IUPHAR Receptor:427, ModBase:P48167, NCBI Gene:2743, OMIM:138492, OMIM:149400, RefSeq DNA:NG_015823, RefSeq DNA:NT_016354, RefSeq Protein:NP_000815, RefSeq Protein:NP_001159532, RefSeq Protein:NP_001159533, RefSeq RNA:NM_000824, RefSeq RNA:NM_001166060, RefSeq RNA:NM_001166061, UCSC Genome Browser:NM_000824, UniProtKB:P48167 No chr4 157997277 158093251 157076125 157172090 +PA28731 2745 HGNC:4330 ENSG00000173221 glutaredoxin GLRX Glutaredoxin-1, glutaredoxin (thioltransferase), thioltransferase GRX, GRX1 Yes No Comparative Toxicogenomics Database:2745, Ensembl:ENSG00000173221, GenAtlas:GLRX, GeneCard:GLRX, HGNC:HGNC:4330, HumanCyc Gene:HS04268, ModBase:P35754, NCBI Gene:2745, OMIM:600443, RefSeq DNA:NT_034772, RefSeq Protein:NP_001112362, RefSeq Protein:NP_002055, RefSeq RNA:NM_001118890, RefSeq RNA:NM_002064, UCSC Genome Browser:NM_002064, UniProtKB:P35754 No chr5 95149553 95158577 95813849 95822873 +PA28732 51022 HGNC:16065 ENSG00000023572 glutaredoxin 2 GLRX2 bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2) GRX2, bA101E13.1 Yes No Comparative Toxicogenomics Database:51022, Ensembl:ENSG00000023572, GenAtlas:GLRX2, GeneCard:GLRX2, HGNC:HGNC:16065, HumanCyc Gene:HS00427, ModBase:Q9NS18, NCBI Gene:51022, OMIM:606820, RefSeq DNA:NT_004487, RefSeq Protein:NP_057150, RefSeq Protein:NP_932066, RefSeq RNA:NM_016066, RefSeq RNA:NM_197962, UCSC Genome Browser:NM_016066, UniProtKB:Q9NS18 No chr1 193065595 193075659 193096465 193106535 +PA162389829 10539 HGNC:15987 ENSG00000108010 glutaredoxin 3 GLRX3 glutaredoxin 4 GLRX4, GRX3, GRX4, PICOT, TXNL2, TXNL3, bA500G10.4 Yes No Ensembl:ENSG00000108010, GeneCard:GLRX3, HGNC:HGNC:15987, HumanCyc Gene:HS03056, ModBase:O76003, NCBI Gene:10539, OMIM:612754, RefSeq DNA:NT_008818, RefSeq Protein:NP_001186797, RefSeq Protein:NP_006532, RefSeq RNA:NM_001199868, RefSeq RNA:NM_006541, UniProtKB:O76003 No chr10 131934639 131978646 130136375 130182877 +PA134992547 51218 HGNC:20134 ENSG00000182512 glutaredoxin 5 GLRX5 C14orf87, GRX5, PR01238 Yes No Comparative Toxicogenomics Database:51218, Ensembl:ENSG00000182512, GeneCard:GLRX5, HGNC:HGNC:20134, ModBase:Q86SX6, NCBI Gene:51218, OMIM:205950, OMIM:609588, RefSeq DNA:NG_021217, RefSeq DNA:NT_026437, RefSeq Protein:NP_057501, RefSeq RNA:NM_016417, UniProtKB:Q86SX6 No chr14 96001323 96011055 95534986 95544718 +PA28733 170522 HGNC:16544 ENSG00000228234 glutaredoxin (thioltransferase) pseudogene 1 GLRXP1 bA425M5.1 Yes No Ensembl:ENSG00000228234, GenAtlas:GLRXP, GeneCard:GLRXP1, HGNC:HGNC:16544, NCBI Gene:170522, RefSeq DNA:NG_001013, RefSeq DNA:NT_011362 No chr20 36230955 36231651 37602353 37603249 +PA134892243 171418 HGNC:18376 ENSG00000258544 glutaredoxin (thioltransferase) pseudogene 2 GLRXP2 Yes No Ensembl:ENSG00000258544, GeneCard:GLRXP2, HGNC:HGNC:18376, NCBI Gene:171418, RefSeq DNA:NG_001323, RefSeq DNA:NT_026437 No chr14 90573955 90575647 90107611 90109303 +PA162389830 100132510 HGNC:34049 ENSG00000118990 glutaredoxin (thioltransferase) pseudogene 3 GLRXP3 Yes No Ensembl:ENSG00000118990, HGNC:HGNC:34049, ModBase:A6NLA2, NCBI Gene:100132510, RefSeq DNA:NG_009942, RefSeq DNA:NT_023133, RefSeq DNA:NT_023133.12, RefSeq Protein:XP_001718132, RefSeq Protein:XP_001722910, RefSeq Protein:XP_001725242, RefSeq RNA:NM_001123388.1, RefSeq RNA:XM_001718080, RefSeq RNA:XM_001718080.1, RefSeq RNA:XM_001722858, RefSeq RNA:XM_001722858.1, RefSeq RNA:XM_001725190, RefSeq RNA:XM_001725190.1, UniProtKB:A6NLA2 No chr5 161177462 161178843 161750456 161751837 +PA28734 2744 HGNC:4331 ENSG00000115419 glutaminase GLS K-glutaminase, glutaminase C GAC, GAM, GLS1, KGA, KIAA0838 Yes No Comparative Toxicogenomics Database:2744, Ensembl:ENSG00000115419, GenAtlas:GLS, GeneCard:GLS, HGNC:HGNC:4331, HumanCyc Gene:HS03886, ModBase:O94925, NCBI Gene:2744, OMIM:138280, RefSeq DNA:NT_005403, RefSeq Protein:NP_055720, RefSeq RNA:NM_014905, UCSC Genome Browser:NM_014905, UniProtKB:O94925 No chr2 191745547 191830278 190880821 190965552 +PA134933506 27165 HGNC:29570 ENSG00000135423 glutaminase 2 GLS2 glutaminase 2 (liver, mitochondrial) GA, GLS, LGA, hLGA Yes No Comparative Toxicogenomics Database:27165, Ensembl:ENSG00000135423, GeneCard:GLS2, HGNC:HGNC:29570, HumanCyc Gene:HS06001, ModBase:Q9UI32, NCBI Gene:27165, OMIM:606365, RefSeq DNA:NT_029419, RefSeq Protein:NP_037399, RefSeq RNA:NM_013267, UniProtKB:Q8IX91, UniProtKB:Q9UI32 No chr12 56864728 56882198 56470944 56488414 +PA128394758 144423 HGNC:26483 ENSG00000151948 glycosyltransferase 1 domain containing 1 GLT1D1 FLJ31978 Yes No Comparative Toxicogenomics Database:144423, Ensembl:ENSG00000151948, GeneCard:GLT1D1, HGNC:HGNC:26483, HumanCyc Gene:HS07782, NCBI Gene:144423, RefSeq DNA:NT_009755, RefSeq Protein:NP_653270, RefSeq RNA:NM_144669, UCSC Genome Browser:NM_144669, UniProtKB:Q96MS3 No chr12 129337985 129469513 128853323 128984964 +PA134906610 360203 HGNC:23671 ENSG00000204007 glycosyltransferase 6 domain containing 1 GLT6D1 GLTDC1 Yes No Ensembl:ENSG00000204007, GeneCard:GLT6D1, HGNC:HGNC:23671, ModBase:Q7Z4J2, NCBI Gene:360203, RefSeq DNA:NT_019501, RefSeq Protein:NP_892019, RefSeq RNA:NM_182974, UniProtKB:Q5T6T3, UniProtKB:Q7Z4J2 No chr9 138515502 138531386 135623656 135641216 +PA134947079 55830 HGNC:24870 ENSG00000016864 glycosyltransferase 8 domain containing 1 GLT8D1 AD-017, FLJ14611 Yes No Comparative Toxicogenomics Database:55830, Ensembl:ENSG00000016864, GeneCard:GLT8D1, HGNC:HGNC:24870, HumanCyc Gene:HS00379, ModBase:Q68CQ7, NCBI Gene:55830, RefSeq DNA:NT_022517, RefSeq Protein:NP_001010983, RefSeq Protein:NP_060916, RefSeq Protein:NP_690909, RefSeq RNA:NM_001010983, RefSeq RNA:NM_018446, RefSeq RNA:NM_152932, UniProtKB:Q68CQ7 No chr3 52728500 52740099 52694484 52706083 +PA134939919 83468 HGNC:24890 ENSG00000120820 glycosyltransferase 8 domain containing 2 GLT8D2 FLJ31494 Yes No Comparative Toxicogenomics Database:83468, Ensembl:ENSG00000120820, GeneCard:GLT8D2, HGNC:HGNC:24890, HumanCyc Gene:HS04439, ModBase:Q9H1C3, NCBI Gene:83468, RefSeq DNA:NT_029419, RefSeq Protein:NP_112592, RefSeq RNA:NM_031302, UniProtKB:Q9H1C3 No chr12 104382762 104457961 103988983 104064177 +PA142671729 51228 HGNC:24867 ENSG00000139433 glycolipid transfer protein GLTP Yes No Ensembl:ENSG00000139433, GeneCard:GLTP, HGNC:HGNC:24867, HumanCyc Gene:HS06618, ModBase:Q9NZD2, NCBI Gene:51228, OMIM:608949, RefSeq DNA:NT_009775, RefSeq Protein:NP_057517, RefSeq RNA:NM_016433, UniProtKB:Q9NZD2 No chr12 110288748 110318293 109850943 109880488 +PA162389864 388323 HGNC:33756 ENSG00000182327 glycolipid transfer protein domain containing 2 GLTPD2 Yes No Ensembl:ENSG00000182327, GeneCard:GLTPD2, HGNC:HGNC:33756, ModBase:A6NH11, NCBI Gene:388323, RefSeq DNA:NT_010718, RefSeq Protein:NP_001014985, RefSeq RNA:NM_001014985, UniProtKB:A6NH11 No chr17 4691723 4693887 4788916 4790589 +PA28737 2746 HGNC:4335 ENSG00000148672 glutamate dehydrogenase 1 GLUD1 GDH, GDH1, GLUD, hGDH1 Yes No Comparative Toxicogenomics Database:2746, Ensembl:ENSG00000148672, GenAtlas:GLUD1, GeneCard:GLUD1, HGNC:HGNC:4335, HumanCyc Gene:HS07548, ModBase:P00367, NCBI Gene:2746, OMIM:138130, OMIM:606762, RefSeq DNA:NG_013010, RefSeq DNA:NT_030059, RefSeq Protein:NP_005262, RefSeq RNA:NM_005271, UCSC Genome Browser:NM_005271, UniProtKB:P00367 No chr10 88809959 88854776 87050202 87095047 +PA28740 2749 HGNC:4338 ENSG00000250959 glutamate dehydrogenase 1 pseudogene 3 GLUD1P3 C10orf102, Em:AC022400.11 Yes No Ensembl:ENSG00000250959, GenAtlas:GLUDP3, GeneCard:GLUD1P3, HGNC:HGNC:4338, NCBI Gene:2749, RefSeq DNA:NG_002763, RefSeq DNA:NT_008583, RefSeq DNA:NT_030059 No chr10 75491299 75495367 73730562 73731771 +PA28741 2750 HGNC:4339 ENSG00000267486 glutamate dehydrogenase 1 pseudogene 4 GLUD1P4 Yes No Ensembl:ENSG00000267486, GenAtlas:GLUDP4, GeneCard:GLUD1P4, HGNC:HGNC:4339, NCBI Gene:2750, RefSeq DNA:NG_005046, RefSeq DNA:NT_025028 No chr18 57445751 57447839 59778573 59780567 +PA28742 2751 HGNC:4340 glutamate dehydrogenase 1 pseudogene 5 GLUD1P5 Yes No GenAtlas:GLUDP5, GeneCard:GLUD1P5, HGNC:HGNC:4340, NCBI Gene:2751, RefSeq DNA:NG_001129, RefSeq DNA:NT_008705 No chr10 31906539 31907129 31617611 31618201 +PA134917884 414213 HGNC:23610 glutamate dehydrogenase 1 pseudogene 6 GLUD1P6 GLUD1P8, bK2173J9.1 Yes No HGNC:HGNC:23610, NCBI Gene:414213 No chr10 47253595 47259683 47563606 47572216 +PA28738 2747 HGNC:4336 ENSG00000182890 glutamate dehydrogenase 2 GLUD2 GLUDP1 Yes No Comparative Toxicogenomics Database:2747, Ensembl:ENSG00000182890, GenAtlas:GLUD2, GeneCard:GLUD2, HGNC:HGNC:4336, HumanCyc Gene:HS00018, ModBase:P49448, NCBI Gene:2747, OMIM:300144, RefSeq DNA:NG_016456, RefSeq DNA:NT_011786, RefSeq Protein:NP_036216, RefSeq RNA:NM_012084, UCSC Genome Browser:NM_012084, UniProtKB:P49448 No chrX 120181462 120183796 121047608 121049942 +PA28743 2752 HGNC:4341 ENSG00000135821 glutamate-ammonia ligase GLUL glutamine synthetase GLNS Yes No Comparative Toxicogenomics Database:2752, Ensembl:ENSG00000135821, GenAtlas:GLUL, GeneCard:GLUL, HGNC:HGNC:4341, HumanCyc Gene:HS06066, ModBase:P15104, NCBI Gene:2752, OMIM:138290, OMIM:610015, RefSeq DNA:NG_013347, RefSeq DNA:NT_004487, RefSeq Protein:NP_001028216, RefSeq Protein:NP_001028228, RefSeq Protein:NP_002056, RefSeq RNA:NM_001033044, RefSeq RNA:NM_001033056, RefSeq RNA:NM_002065, UCSC Genome Browser:NM_002065, UniProtKB:A8YXX4, UniProtKB:P15104 No chr1 182350839 182361341 182378093 182392206 +PA28744 2753 HGNC:4342 glutamate-ammonia ligase (glutamine synthetase) pseudogene 1 GLULP1 Yes No GenAtlas:GLULL1, GeneCard:GLULP1, HGNC:HGNC:4342, NCBI Gene:2753, RefSeq DNA:NG_003030, RefSeq DNA:NT_029289 No chr5 151228368 151230472 151848743 151850918 +PA28745 2754 HGNC:4343 glutamate-ammonia ligase (glutamine synthetase) pseudogene 2 GLULP2 Yes No GenAtlas:GLULL2, GeneCard:GLULP2, HGNC:HGNC:4343, NCBI Gene:2754, RefSeq DNA:NG_009859, RefSeq DNA:NT_009237 No chr11 9978132 9981461 9956585 9959914 +PA28746 401708 HGNC:4344 ENSG00000254572 glutamate-ammonia ligase (glutamine synthetase) pseudogene 3 GLULP3 Yes No Ensembl:ENSG00000254572, GenAtlas:GLULL3, GeneCard:GLULP3, HGNC:HGNC:4344, NCBI Gene:401708, RefSeq DNA:NG_007180, RefSeq DNA:NT_033899 No chr11 122484151 122485271 122613326 122614690 +PA28747 392305 HGNC:4345 ENSG00000178723 glutamate-ammonia ligase (glutamine synthetase) pseudogene 4 GLULP4 Yes No Ensembl:ENSG00000178723, GenAtlas:GLULP, GeneCard:GLULP4, HGNC:HGNC:4345, NCBI Gene:392305, RefSeq DNA:NG_005208, RefSeq DNA:NT_008413 No chr9 34917173 34918288 34917045 34918408 +PA28748 10249 HGNC:13734 ENSG00000149124 glycine-N-acyltransferase GLYAT ACGNAT, GAT Yes No Comparative Toxicogenomics Database:10249, Ensembl:ENSG00000149124, GenAtlas:GLYAT, GeneCard:GLYAT, HGNC:HGNC:13734, HumanCyc Gene:HS07585, NCBI Gene:10249, OMIM:607424, RefSeq DNA:NT_167190, RefSeq Protein:NP_005829, RefSeq Protein:NP_964011, RefSeq RNA:NM_005838, RefSeq RNA:NM_201648, UCSC Genome Browser:NM_005838, UniProtKB:Q6IB77 No chr11 58476230 58499447 58708757 58731974 +PA142671727 92292 HGNC:30519 ENSG00000166840 glycine-N-acyltransferase like 1 GLYATL1 glycine-N-acyltransferase-like 1 FLJ34646, MGC15397 Yes No Ensembl:ENSG00000166840, GeneCard:GLYATL1, HGNC:HGNC:30519, HumanCyc Gene:HS15495, ModBase:Q969I3, NCBI Gene:92292, RefSeq DNA:NT_167190, RefSeq Protein:NP_001207423, RefSeq Protein:NP_001207425, RefSeq Protein:NP_542392, RefSeq RNA:NM_001220494, RefSeq RNA:NM_001220496, RefSeq RNA:NM_080661, UniProtKB:Q969I3 No chr11 58695102 58724543 58927629 58957074 +PA166181532 100287520 HGNC:37865 ENSG00000255151 glycine-N-acyltransferase like 1B GLYATL1B GLYATL1P3 Yes No Ensembl:ENSG00000255151, HGNC:HGNC:37865, NCBI Gene:100287520 No 0 0 0 0 +PA142671728 219970 HGNC:24178 ENSG00000156689 glycine-N-acyltransferase like 2 GLYATL2 glycine-N-acyltransferase-like 2 BXMAS2-10, MGC24009 Yes No Ensembl:ENSG00000156689, GeneCard:GLYATL2, HGNC:HGNC:24178, HumanCyc Gene:HS14631, ModBase:Q8WU03, NCBI Gene:219970, RefSeq DNA:NT_167190, RefSeq Protein:NP_659453, RefSeq RNA:NM_145016, UniProtKB:A5LGC7, UniProtKB:Q8WU03 No chr11 58601538 58611997 58834065 58905699 +PA165617919 389396 HGNC:21349 ENSG00000203972 glycine-N-acyltransferase like 3 GLYATL3 glycine-N-acyltransferase-like 3 C6orf140, bA28H17.2 Yes No Ensembl:ENSG00000203972, GeneCard:GLYATL3, HGNC:HGNC:21349, NCBI Gene:389396, RefSeq DNA:NT_007592, RefSeq Protein:NP_001010904, RefSeq Protein:XP_001717274, RefSeq Protein:XP_371825, RefSeq RNA:NM_001010904, RefSeq RNA:XM_001717222, RefSeq RNA:XM_371825, UniProtKB:Q5SZD4 No chr6 49467671 49495777 49499958 49528064 +PA134871015 644076 HGNC:18023 ENSG00000257780 glycosylation dependent cell adhesion molecule 1 (pseudogene) GLYCAM1 Yes No Comparative Toxicogenomics Database:644076, Ensembl:ENSG00000257780, GeneCard:GLYCAM1, HGNC:HGNC:18023, NCBI Gene:644076, RefSeq DNA:NT_029419, RefSeq RNA:NR_003039 No chr12 55001971 55004246 54608187 54610462 +PA162389865 132158 HGNC:24247 ENSG00000168237 glycerate kinase GLYCTK HBEBP2, HBEBP4 Yes No Ensembl:ENSG00000168237, GeneCard:GLYCTK, HGNC:HGNC:24247, HumanCyc Gene:HS15649, ModBase:Q8IVS8, NCBI Gene:132158, OMIM:610516, RefSeq DNA:NG_023246, RefSeq DNA:NT_022517, RefSeq Protein:NP_001138423, RefSeq Protein:NP_660305, RefSeq RNA:NM_001144951, RefSeq RNA:NM_145262, RefSeq RNA:NR_026699, RefSeq RNA:NR_026700, RefSeq RNA:NR_026701, RefSeq RNA:NR_026702, UniProtKB:Q8IVS8 No chr3 52321836 52329272 52287558 52295256 +PA165450093 84656 HGNC:24434 ENSG00000140632 glyoxylate reductase 1 homolog GLYR1 glyoxylate reductase 1 homolog (Arabidopsis), nuclear protein 60kDa BM045, HIBDL, N-PAC, NP60 Yes No Ensembl:ENSG00000140632, GeneCard:GLYR1, HGNC:HGNC:24434, HumanCyc Gene:HS06746, NCBI Gene:84656, OMIM:610660, RefSeq DNA:NT_010393, RefSeq Protein:NP_115958, RefSeq RNA:NM_032569, UniProtKB:Q49A26 No chr16 4853204 4897383 4803203 4847388 +PA28752 2760 HGNC:4367 ENSG00000196743 ganglioside GM2 activator GM2A GM2 ganglioside activator, GM2-activator protein, cerebroside sulfate activator protein, sphingolipid activator protein 3 GM2-AP, GM2AP, SAP-3 Yes No Comparative Toxicogenomics Database:2760, Ensembl:ENSG00000196743, GenAtlas:GM2A, GeneCard:GM2A, HGNC:HGNC:4367, ModBase:P17900, NCBI Gene:2760, OMIM:272750, OMIM:613109, RefSeq DNA:NG_009059, RefSeq DNA:NT_029289, RefSeq Protein:NP_000396, RefSeq Protein:NP_001161079, RefSeq RNA:NM_000405, RefSeq RNA:NM_001167607, UCSC Genome Browser:NM_000405, UniProtKB:P17900 No chr5 150632613 150650083 151253052 151270394 +PA28753 2761 HGNC:4368 ENSG00000241695 GM2 ganglioside activator pseudogene 1 GM2AP1 Yes No Ensembl:ENSG00000241695, GenAtlas:GM2AP, GeneCard:GM2AP1, HGNC:HGNC:4368, NCBI Gene:2761, RefSeq DNA:NG_001130, RefSeq DNA:NT_005612 No chr3 145402276 145406285 145684489 145688498 +PA143485477 64395 HGNC:23843 ENSG00000087338 germ cell-less 1, spermatogenesis associated GMCL1 """germ cell-less, spermatogenesis associated 1"", ""spermatogenesis associated 29""" BTBD13, FLJ13057, GCL1, SPATA29 Yes No Comparative Toxicogenomics Database:64395, Ensembl:ENSG00000087338, GeneCard:GMCL1, HGNC:HGNC:23843, ModBase:Q96IK5, NCBI Gene:64395, RefSeq DNA:NT_022184, RefSeq Protein:NP_848526, RefSeq RNA:NM_178439, UniProtKB:Q53SE7, UniProtKB:Q96IK5 No chr2 70056818 70106727 69829606 69881396 +PA143485478 64396 HGNC:19717 ENSG00000244234 germ cell-less 2, spermatogenesis associated GMCL2 """germ cell-less, spermatogenesis associated 1 pseudogene 1"", ""germ cell-less, spermatogenesis associated 2""" GCL, GMCL1L, GMCL1P1, GMCL2 Yes No Ensembl:ENSG00000244234, GeneCard:GMCL1P1, HGNC:HGNC:19717, ModBase:Q8NEA9, NCBI Gene:64396, RefSeq DNA:NT_023133, RefSeq RNA:NM_001358008 No chr5 177611511 177614433 178184510 178187432 +PA28754 2762 HGNC:4369 ENSG00000112699 GDP-mannose 4,6-dehydratase GMDS short chain dehydrogenase/reductase family 3E, member 1 GMD, SDR3E1 Yes No Ensembl:ENSG00000112699, GenAtlas:GMDS, GeneCard:GMDS, HGNC:HGNC:4369, HumanCyc Gene:HS03608, ModBase:O60547, NCBI Gene:2762, OMIM:602884, RefSeq DNA:NT_007592, RefSeq Protein:NP_001491, RefSeq RNA:NM_001500, UCSC Genome Browser:NM_001500, UniProtKB:O60547 No chr6 1624035 2245868 1623800 2245634 +PA28755 10691 HGNC:4370 ENSG00000162419 glucocorticoid modulatory element binding protein 1 GMEB1 P96PIF, PIF96 Yes No Comparative Toxicogenomics Database:10691, Ensembl:ENSG00000162419, GenAtlas:GMEB1, GeneCard:GMEB1, HGNC:HGNC:4370, HumanCyc Gene:HS08674, ModBase:Q9Y692, NCBI Gene:10691, OMIM:604409, RefSeq DNA:NT_004610, RefSeq Protein:NP_006573, RefSeq Protein:NP_077808, RefSeq RNA:NM_006582, RefSeq RNA:NM_024482, UCSC Genome Browser:NM_006582, UniProtKB:B1AT47, UniProtKB:Q9Y692 No chr1 28995234 29042115 28668728 28715603 +PA28756 26205 HGNC:4371 ENSG00000101216 glucocorticoid modulatory element binding protein 2 GMEB2 KIAA1269, P79PIF, PIF79 Yes No Comparative Toxicogenomics Database:26205, Ensembl:ENSG00000101216, GenAtlas:GMEB2, GeneCard:GMEB2, HGNC:HGNC:4371, HumanCyc Gene:HS02222, ModBase:Q9UKD1, NCBI Gene:26205, OMIM:607451, RefSeq DNA:NT_011333, RefSeq Protein:NP_036516, RefSeq RNA:NM_012384, UCSC Genome Browser:NM_012384, UniProtKB:Q9UKD1 No chr20 62218955 62258381 63587594 63627101 +PA28758 2764 HGNC:4373 ENSG00000197045 glia maturation factor beta GMFB glia maturation factor, beta GMF Yes No Comparative Toxicogenomics Database:2764, Ensembl:ENSG00000197045, GenAtlas:GMFB, GeneCard:GMFB, HGNC:HGNC:4373, ModBase:P60983, NCBI Gene:2764, OMIM:601713, RefSeq DNA:NT_026437, RefSeq Protein:NP_004115, RefSeq RNA:NM_004124, UCSC Genome Browser:NM_004124, UniProtKB:P60983 No chr14 54941202 54955785 54474491 54489026 +PA28759 9535 HGNC:4374 ENSG00000130755 glia maturation factor gamma GMFG glia maturation factor, gamma Yes No Ensembl:ENSG00000130755, GenAtlas:GMFG, GeneCard:GMFG, HGNC:HGNC:4374, HumanCyc Gene:HS05437, ModBase:O60234, NCBI Gene:9535, OMIM:604104, RefSeq DNA:NT_011109, RefSeq Protein:NP_004868, RefSeq RNA:NM_004877, UCSC Genome Browser:NM_004877, UniProtKB:O60234, UniProtKB:Q6IB37 No chr19 39818999 39826726 39328357 39336086 +PA134963566 51291 HGNC:24852 ENSG00000089639 GEM interacting protein GMIP ARHGAP46 Yes No Comparative Toxicogenomics Database:51291, Ensembl:ENSG00000089639, GeneCard:GMIP, HGNC:HGNC:24852, HumanCyc Gene:HS01659, ModBase:Q9P107, NCBI Gene:51291, OMIM:609694, RefSeq DNA:NT_011295, RefSeq Protein:NP_057657, RefSeq RNA:NM_016573, UniProtKB:Q9P107 No chr19 19740285 19754457 19629473 19643667 +PA28760 2765 HGNC:4375 ENSG00000104499 glycosylphosphatidylinositol anchored molecule like GML LY6DL Yes No Comparative Toxicogenomics Database:2765, Ensembl:ENSG00000104499, GenAtlas:GML, GeneCard:GML, HGNC:HGNC:4375, HumanCyc Gene:HS02589, ModBase:Q99445, NCBI Gene:2765, OMIM:602370, RefSeq DNA:NT_008046, RefSeq Protein:NP_002057, RefSeq RNA:NM_002066, UCSC Genome Browser:NM_002066, UniProtKB:Q99445 No chr8 143916217 143928262 142834801 142846846 +PA166049067 647309 HGNC:40049 ENSG00000205835 geminin coiled-coil domain containing GMNC GEMC1 Yes No Ensembl:ENSG00000205835, HGNC:HGNC:40049, NCBI Gene:647309 No chr3 190570526 190610190 190843271 190864200 +PA38455 51053 HGNC:17493 ENSG00000112312 geminin DNA replication inhibitor GMNN geminin, DNA replication inhibitor Gem Yes No Comparative Toxicogenomics Database:51053, Ensembl:ENSG00000112312, GenAtlas:GMNN, GeneCard:GMNN, HGNC:HGNC:17493, HumanCyc Gene:HS03558, ModBase:O75496, NCBI Gene:51053, OMIM:602842, RefSeq DNA:NT_007592, RefSeq Protein:NP_056979, RefSeq RNA:NM_015895, UCSC Genome Browser:NM_015895, UniProtKB:O75496 No chr6 24775159 24786327 24774931 24786099 +PA134925506 29926 HGNC:22923 ENSG00000144591 GDP-mannose pyrophosphorylase A GMPPA Yes No Comparative Toxicogenomics Database:29926, Ensembl:ENSG00000144591, GeneCard:GMPPA, HGNC:HGNC:22923, HumanCyc Gene:HS07182, ModBase:Q96IJ6, NCBI Gene:29926, RefSeq DNA:NT_005403, RefSeq Protein:NP_037467, RefSeq Protein:NP_995319, RefSeq RNA:NM_013335, RefSeq RNA:NM_205847, UniProtKB:Q96IJ6 No chr2 220363587 220371718 219498865 219506996 +PA134875590 29925 HGNC:22932 ENSG00000173540 GDP-mannose pyrophosphorylase B GMPPB mannose-1-phosphate guanyltransferase beta KIAA1851 Yes No Comparative Toxicogenomics Database:29925, Ensembl:ENSG00000173540, GeneCard:GMPPB, HGNC:HGNC:22932, HumanCyc Gene:HS10686, ModBase:Q9Y5P6, NCBI Gene:29925, RefSeq DNA:NT_022517, RefSeq Protein:NP_037466, RefSeq Protein:NP_068806, RefSeq RNA:NM_013334, RefSeq RNA:NM_021971, UniProtKB:Q9Y5P6 No chr3 49758909 49761407 49721476 49723974 +PA28761 2766 HGNC:4376 ENSG00000137198 guanosine monophosphate reductase GMPR GMP reductase 1 GMPR1 Yes No Comparative Toxicogenomics Database:2766, Ensembl:ENSG00000137198, GenAtlas:GMPR, GeneCard:GMPR, HGNC:HGNC:4376, HumanCyc Gene:HS06289, ModBase:P36959, NCBI Gene:2766, OMIM:139265, RefSeq DNA:NG_013303, RefSeq DNA:NT_007592, RefSeq Protein:NP_006868, RefSeq RNA:NM_006877, UCSC Genome Browser:NM_006877, UniProtKB:P36959 No chr6 16238811 16295780 16238580 16295549 +PA28762 51292 HGNC:4377 ENSG00000100938 guanosine monophosphate reductase 2 GMPR2 Yes No Comparative Toxicogenomics Database:51292, Ensembl:ENSG00000100938, GenAtlas:GMPR2, GeneCard:GMPR2, HGNC:HGNC:4377, HumanCyc Gene:HS02169, ModBase:Q9P2T1, NCBI Gene:51292, OMIM:610781, RefSeq DNA:NT_026437, RefSeq Protein:NP_001002000, RefSeq Protein:NP_001002001, RefSeq Protein:NP_001002002, RefSeq Protein:NP_057660, RefSeq RNA:NM_001002000, RefSeq RNA:NM_001002001, RefSeq RNA:NM_001002002, RefSeq RNA:NM_016576, UCSC Genome Browser:NM_016576, UniProtKB:Q86T14, UniProtKB:Q9P2T1 No chr14 24701633 24708448 24232417 24239242 +PA28763 8833 HGNC:4378 ENSG00000163655 guanine monophosphate synthase GMPS GMP synthase, guanine monphosphate synthase, guanine monphosphate synthetase GATD7 Yes Yes Comparative Toxicogenomics Database:8833, Ensembl:ENSG00000163655, GenAtlas:GMPS, GeneCard:GMPS, HGNC:HGNC:4378, HumanCyc Gene:HS08906, ModBase:P49915, NCBI Gene:8833, OMIM:600358, OMIM:601626, RefSeq DNA:NG_023247, RefSeq DNA:NT_005612, RefSeq Protein:NP_003866, RefSeq RNA:NM_003875, UCSC Genome Browser:NM_003875, UniProtKB:A8K639, UniProtKB:P49915 No chr3 155588325 155657150 155869430 155943679 +PA28764 2767 HGNC:4379 ENSG00000088256 G protein subunit alpha 11 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) FBH, FBH2, FHH2, HHC2 Yes No Comparative Toxicogenomics Database:2767, Ensembl:ENSG00000088256, GenAtlas:GNA11, GeneCard:GNA11, HGNC:HGNC:4379, HumanCyc Gene:HS01594, ModBase:P29992, NCBI Gene:2767, OMIM:139313, RefSeq DNA:NT_011255, RefSeq Protein:NP_002058, RefSeq RNA:NM_002067, UCSC Genome Browser:NM_002067, UniProtKB:P29992 No chr19 3094408 3121468 3094410 3124002 +PA28765 2768 HGNC:4380 ENSG00000146535 G protein subunit alpha 12 GNA12 guanine nucleotide binding protein (G protein) alpha 12 gep Yes No Comparative Toxicogenomics Database:2768, Ensembl:ENSG00000146535, GenAtlas:GNA12, GeneCard:GNA12, HGNC:HGNC:4380, HumanCyc Gene:HS07355, ModBase:Q03113, NCBI Gene:2768, OMIM:604394, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_031379, RefSeq RNA:NM_007353, UCSC Genome Browser:NM_007353, UniProtKB:B3KXS2, UniProtKB:Q03113, UniProtKB:Q6ZQV4 No chr7 2767739 2883963 2728105 2870656 +PA28766 10672 HGNC:4381 ENSG00000120063 G protein subunit alpha 13 GNA13 guanine nucleotide binding protein (G protein), alpha 13 G13, MGC46138 Yes No Comparative Toxicogenomics Database:10672, Ensembl:ENSG00000120063, GenAtlas:GNA13, GeneCard:GNA13, HGNC:HGNC:4381, HumanCyc Gene:HS04364, ModBase:Q14344, NCBI Gene:10672, OMIM:604406, RefSeq DNA:NT_010783, RefSeq Protein:NP_006563, RefSeq RNA:NM_006572, UCSC Genome Browser:NM_006572, UniProtKB:Q14344 No chr17 63005407 63052920 65009289 65056802 +PA28767 9630 HGNC:4382 ENSG00000156049 G protein subunit alpha 14 GNA14 guanine nucleotide binding protein (G protein), alpha 14 Yes No Comparative Toxicogenomics Database:9630, Ensembl:ENSG00000156049, GenAtlas:GNA14, GeneCard:GNA14, HGNC:HGNC:4382, HumanCyc Gene:HS08092, ModBase:O95837, NCBI Gene:9630, OMIM:604397, RefSeq DNA:NT_008470, RefSeq Protein:NP_004288, RefSeq RNA:NM_004297, UCSC Genome Browser:NM_004297, UniProtKB:B1ALW3, UniProtKB:O95837 No chr9 80037995 80263232 77423079 77648316 +PA28768 2769 HGNC:4383 ENSG00000060558 G protein subunit alpha 15 GNA15 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) GNA16 Yes No Comparative Toxicogenomics Database:2769, Ensembl:ENSG00000060558, GenAtlas:GNA15, GeneCard:GNA15, HGNC:HGNC:4383, HumanCyc Gene:HS00745, ModBase:P30679, NCBI Gene:2769, OMIM:139314, RefSeq DNA:NT_011255, RefSeq Protein:NP_002059, RefSeq RNA:NM_002068, UCSC Genome Browser:NM_002068, UniProtKB:P30679 No chr19 3136191 3163766 3136032 3163769 +PA172 2770 HGNC:4384 ENSG00000127955 G protein subunit alpha i1 GNAI1 """Gi1 protein alpha subunit"", ""Guanine nucleotide-binding protein G(i) subunit alpha-1"", ""guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1""" Yes No Comparative Toxicogenomics Database:2770, Ensembl:ENSG00000127955, GenAtlas:GNAI1, GeneCard:GNAI1, HGNC:HGNC:4384, HumanCyc Gene:HS05144, ModBase:P63096, NCBI Gene:2770, OMIM:139310, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_002060, RefSeq RNA:NM_002069, UCSC Genome Browser:NM_002069, UniProtKB:P63096 No chr7 79764140 79848725 80134824 80219409 +PA24347 2771 HGNC:4385 ENSG00000114353 G protein subunit alpha i2 GNAI2 """GTP-binding regulatory protein Gi alpha-2 chain"", ""Guanine nucleotide-binding protein G(i) subunit alpha-2"", ""guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2""" GIP, GNAI2B Yes No Comparative Toxicogenomics Database:2771, Ensembl:ENSG00000114353, GenAtlas:GNAI2, GeneCard:GNAI2, HGNC:HGNC:4385, HumanCyc Gene:HS03759, ModBase:P04899, NCBI Gene:2771, OMIM:139360, OMIM:192605, RefSeq DNA:NG_016002, RefSeq DNA:NT_022517, RefSeq Protein:NP_001159897, RefSeq Protein:NP_002061, RefSeq RNA:NM_001166425, RefSeq RNA:NM_002070, UCSC Genome Browser:NM_002070, UniProtKB:B3KP24, UniProtKB:B3KX51, UniProtKB:B4DYA0, UniProtKB:P04899 No chr3 50264120 50296786 50226688 50259354 +PA28769 2772 HGNC:4386 ENSG00000255749 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1 GNAI2P1 Yes No Ensembl:ENSG00000255749, GenAtlas:GNAI2L, GeneCard:GNAI2P1, HGNC:HGNC:4386, NCBI Gene:2772, OMIM:139180, RefSeq DNA:NT_009714 No chr12 14407760 14408520 14254914 14255486 +PA173 2773 HGNC:4387 ENSG00000065135 G protein subunit alpha i3 GNAI3 """Guanine nucleotide-binding protein G(k) subunit alpha"", ""guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3""" 87U6 Yes No Comparative Toxicogenomics Database:2773, Ensembl:ENSG00000065135, GenAtlas:GNAI3, GeneCard:GNAI3, HGNC:HGNC:4387, HumanCyc Gene:HS00830, ModBase:P08754, NCBI Gene:2773, OMIM:139370, RefSeq DNA:NT_032977, RefSeq Protein:NP_006487, RefSeq RNA:NM_006496, UCSC Genome Browser:NM_006496, UniProtKB:P08754, UniProtKB:Q5TZX1 No chr1 110091186 110138465 109548564 109595843 +PA28770 2774 HGNC:4388 ENSG00000141404 G protein subunit alpha L GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type Yes No Comparative Toxicogenomics Database:2774, Ensembl:ENSG00000141404, GenAtlas:GNAL, GeneCard:GNAL, HGNC:HGNC:4388, HumanCyc Gene:HS06823, ModBase:P38405, NCBI Gene:2774, OMIM:139312, RefSeq DNA:NT_010859, RefSeq Protein:NP_001135811, RefSeq Protein:NP_002062, RefSeq Protein:NP_892023, RefSeq RNA:NM_001142339, RefSeq RNA:NM_002071, RefSeq RNA:NM_182978, UCSC Genome Browser:NM_002071, UniProtKB:A8K1Y9, UniProtKB:P38405, UniProtKB:Q86XU3, UniProtKB:Q8N2B4 No chr18 11689014 11885684 11688956 11885685 +PA28771 2775 HGNC:4389 ENSG00000087258 G protein subunit alpha o1 GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O G-ALPHA-o Yes No Comparative Toxicogenomics Database:2775, Ensembl:ENSG00000087258, GenAtlas:GNAO1, GeneCard:GNAO1, HGNC:HGNC:4389, HumanCyc Gene:HS01568, ModBase:P09471, ModBase:P29777, NCBI Gene:2775, OMIM:139311, RefSeq DNA:NT_010498, RefSeq Protein:NP_066268, RefSeq Protein:NP_620073, RefSeq RNA:NM_020988, RefSeq RNA:NM_138736, UCSC Genome Browser:NM_020988, UniProtKB:B3KP89, UniProtKB:P09471, UniProtKB:Q6AWC5, UniProtKB:Q8N6I9 No chr16 56225251 56391356 56191339 56357444 +PA174 2776 HGNC:4390 ENSG00000156052 G protein subunit alpha q GNAQ guanine nucleotide binding protein (G protein), q polypeptide G-ALPHA-q, GAQ Yes No Comparative Toxicogenomics Database:2776, Ensembl:ENSG00000156052, GenAtlas:GNAQ, GeneCard:GNAQ, HGNC:HGNC:4390, HumanCyc Gene:HS08093, ModBase:P50148, NCBI Gene:2776, OMIM:600998, RefSeq DNA:NT_008470, RefSeq Protein:NP_002063, RefSeq RNA:NM_002072, UCSC Genome Browser:NM_002072, UniProtKB:P50148 No chr9 80335189 80646219 77716274 78031449 +PA28772 2777 HGNC:4391 ENSG00000214077 guanine nucleotide binding protein (G protein), q polypeptide pseudogene 1 GNAQP1 Yes No Ensembl:ENSG00000214077, GenAtlas:GNAQP, GeneCard:GNAQP1, HGNC:HGNC:4391, NCBI Gene:2777, RefSeq DNA:NG_000862, RefSeq DNA:NT_022135 No chr2 132180315 132182508 131422543 131425081 +PA175 2778 HGNC:4392 ENSG00000087460 GNAS complex locus GNAS G protein subunit alpha S, secretogranin VI GNAS1, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI Yes Yes Comparative Toxicogenomics Database:2778, Ensembl:ENSG00000087460, GenAtlas:GNAS, GeneCard:GNAS, HGNC:HGNC:4392, HumanCyc Gene:HS01577, HumanCyc Gene:HS10929, ModBase:O95467, ModBase:P84996, ModBase:Q5JWF2, ModBase:Q8TBC0, NCBI Gene:2778, OMIM:102200, OMIM:103580, OMIM:139320, OMIM:166350, OMIM:174800, OMIM:219090, OMIM:603233, OMIM:612462, OMIM:612463, RefSeq DNA:NG_016194, RefSeq DNA:NT_011362, RefSeq Protein:NP_000507, RefSeq Protein:NP_001070956, RefSeq Protein:NP_001070957, RefSeq Protein:NP_001070958, RefSeq Protein:NP_057676, RefSeq Protein:NP_536350, RefSeq Protein:NP_536351, RefSeq RNA:NM_000516, RefSeq RNA:NM_001077488, RefSeq RNA:NM_001077489, RefSeq RNA:NM_001077490, RefSeq RNA:NM_016592, RefSeq RNA:NM_080425, RefSeq RNA:NM_080426, RefSeq RNA:NR_003259, UCSC Genome Browser:NM_000516, UniProtKB:A6NI00, UniProtKB:O95467, UniProtKB:P63092, UniProtKB:P84996, UniProtKB:Q5JWF2 No chr20 57414756 57486250 58839681 58911196 +PA162389866 149775 HGNC:24872 ENSG00000235590 GNAS antisense RNA 1 GNAS-AS1 GNAS antisense, non-protein coding RNA 75 GNAS1AS, NCRNA00075, NESP-AS, NESPAS, SANG Yes No Ensembl:ENSG00000235590, GeneCard:GNASAS, HGNC:HGNC:24872, NCBI Gene:149775, OMIM:603233, OMIM:610540, RefSeq DNA:NG_021433, RefSeq DNA:NT_011362, RefSeq RNA:NR_002785 No chr20 57393973 57425958 58818918 58850903 +PA28773 2779 HGNC:4393 ENSG00000114349 G protein subunit alpha transducin 1 GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 CSNBAD3 Yes No Comparative Toxicogenomics Database:2779, Ensembl:ENSG00000114349, GenAtlas:GNAT1, GeneCard:GNAT1, HGNC:HGNC:4393, HumanCyc Gene:HS03758, ModBase:P11488, NCBI Gene:2779, OMIM:139330, OMIM:610444, RefSeq DNA:NG_009831, RefSeq DNA:NT_022517, RefSeq Protein:NP_000163, RefSeq Protein:NP_653082, RefSeq RNA:NM_000172, RefSeq RNA:NM_144499, UCSC Genome Browser:NM_000172, UniProtKB:P11488 No chr3 50229043 50235129 50191610 50197696 +PA28774 2780 HGNC:4394 ENSG00000134183 G protein subunit alpha transducin 2 GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 ACHM4 Yes No Comparative Toxicogenomics Database:2780, Ensembl:ENSG00000134183, GenAtlas:GNAT2, GeneCard:GNAT2, HGNC:HGNC:4394, HumanCyc Gene:HS05826, ModBase:P19087, NCBI Gene:2780, OMIM:139340, RefSeq DNA:NG_009099, RefSeq DNA:NT_032977, RefSeq Protein:NP_005263, RefSeq RNA:NM_005272, UCSC Genome Browser:NM_005272, UniProtKB:P19087, UniProtKB:Q5T697 No chr1 110145889 110155705 109603091 109619733 +PA134931156 346562 HGNC:22800 ENSG00000214415 G protein subunit alpha transducin 3 GNAT3 guanine nucleotide binding protein, alpha transducing 3 GDCA, gustducin Yes No Ensembl:ENSG00000214415, GeneCard:GNAT3, HGNC:HGNC:22800, ModBase:A8MTJ3, NCBI Gene:346562, OMIM:139395, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001095856, RefSeq RNA:NM_001102386, UniProtKB:A8MTJ3 No chr7 80087987 80141242 80457291 80512503 +PA28775 2781 HGNC:4395 ENSG00000128266 G protein subunit alpha z GNAZ guanine nucleotide binding protein (G protein), alpha z polypeptide Yes Yes Comparative Toxicogenomics Database:2781, Ensembl:ENSG00000128266, GenAtlas:GNAZ, GeneCard:GNAZ, HGNC:HGNC:4395, HumanCyc Gene:HS05167, ModBase:P19086, NCBI Gene:2781, OMIM:139160, RefSeq DNA:NT_011520, RefSeq Protein:NP_002064, RefSeq RNA:NM_002073, UCSC Genome Browser:NM_002073, UniProtKB:P19086, UniProtKB:Q8IY73, UniProtKB:Q8N652 No chr22 23412669 23467224 23070483 23125037 +PA28776 2782 HGNC:4396 ENSG00000078369 G protein subunit beta 1 GNB1 """guanine nucleotide binding protein (G protein), beta polypeptide 1"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1"", ""transducin beta chain 1""" Yes No Comparative Toxicogenomics Database:2782, Ensembl:ENSG00000078369, GenAtlas:GNB1, GeneCard:GNB1, HGNC:HGNC:4396, HumanCyc Gene:HS01284, ModBase:P62873, NCBI Gene:2782, OMIM:139380, RefSeq DNA:NT_004350, RefSeq Protein:NP_002065, RefSeq RNA:NM_002074, UCSC Genome Browser:NM_002074, UniProtKB:P62873 No chr1 1716725 1822552 1785285 1891117 +PA28777 54584 HGNC:4397 ENSG00000185838 G protein subunit beta 1 like GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like GY2, WDR14 Yes No Ensembl:ENSG00000185838, GenAtlas:GNB1L, GeneCard:GNB1L, HGNC:HGNC:4397, ModBase:Q9BYB4, NCBI Gene:54584, OMIM:610778, RefSeq DNA:NT_011519, RefSeq Protein:NP_443730, RefSeq RNA:NM_053004, UCSC Genome Browser:NM_053004, UniProtKB:Q9BYB4 No chr22 19775932 19842462 19788411 19854939 +PA28778 2783 HGNC:4398 ENSG00000172354 G protein subunit beta 2 GNB2 """G protein, beta-2 subunit"", ""guanine nucleotide binding protein (G protein), beta polypeptide 2"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2""" Yes No Comparative Toxicogenomics Database:2783, Ensembl:ENSG00000172354, GenAtlas:GNB2, GeneCard:GNB2, HGNC:HGNC:4398, HumanCyc Gene:HS10500, ModBase:P62879, NCBI Gene:2783, OMIM:139390, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_005264, RefSeq RNA:NM_005273, UCSC Genome Browser:NM_005273, UniProtKB:P62879, UniProtKB:Q6FHM2 No chr7 100271363 100276792 100673740 100679169 +PA176 2784 HGNC:4400 ENSG00000111664 G protein subunit beta 3 GNB3 """Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3"", ""guanine nucleotide binding protein (G protein), beta polypeptide 3"", ""transducin beta chain 3""" Yes Yes Comparative Toxicogenomics Database:2784, Ensembl:ENSG00000111664, GenAtlas:GNB3, GeneCard:GNB3, HGNC:HGNC:4400, HumanCyc Gene:HS03437, ModBase:P16520, NCBI Gene:2784, OMIM:139130, OMIM:145500, RefSeq DNA:NG_009100, RefSeq DNA:NT_009759, RefSeq Protein:NP_002066, RefSeq RNA:NM_002075, UCSC Genome Browser:NM_002075, UniProtKB:P16520 No chr12 6949375 6956564 6840854 6847400 +PA134864200 59345 HGNC:20731 ENSG00000114450 G protein subunit beta 4 GNB4 """Guanine nucleotide-binding protein subunit beta-4"", ""guanine nucleotide binding protein (G protein), beta polypeptide 4"", ""transducin beta chain 4""" Yes No Comparative Toxicogenomics Database:59345, Ensembl:ENSG00000114450, GeneCard:GNB4, HGNC:HGNC:20731, HumanCyc Gene:HS03770, ModBase:Q9HAV0, NCBI Gene:59345, OMIM:610863, RefSeq DNA:NT_005612, RefSeq Protein:NP_067642, RefSeq RNA:NM_021629, UniProtKB:Q9HAV0 No chr3 179113876 179169371 179396088 179451583 +PA28780 10681 HGNC:4401 ENSG00000069966 G protein subunit beta 5 GNB5 """Guanine nucleotide-binding protein subunit beta-5"", ""Transducin beta chain 5"", ""guanine nucleotide binding protein (G protein), beta 5""" GB5 Yes No Comparative Toxicogenomics Database:10681, Ensembl:ENSG00000069966, GenAtlas:GNB5, GeneCard:GNB5, HGNC:HGNC:4401, HumanCyc Gene:HS00976, ModBase:O14775, NCBI Gene:10681, OMIM:604447, RefSeq DNA:NT_010194, RefSeq Protein:NP_006569, RefSeq Protein:NP_057278, RefSeq RNA:NM_006578, RefSeq RNA:NM_016194, UCSC Genome Browser:NM_006578, UniProtKB:O14775 No chr15 52413123 52483565 52120926 52191368 +PA134987566 10020 HGNC:23657 ENSG00000159921 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase GNE bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase IBM2, Uae1 Yes No Comparative Toxicogenomics Database:10020, Ensembl:ENSG00000159921, GeneCard:GNE, HGNC:HGNC:23657, HumanCyc Gene:HS08435, ModBase:Q9Y223, NCBI Gene:10020, OMIM:269921, OMIM:600737, OMIM:603824, OMIM:605820, RefSeq DNA:NG_008246, RefSeq DNA:NT_008413, RefSeq Protein:NP_001121699, RefSeq Protein:NP_001177312, RefSeq Protein:NP_001177313, RefSeq Protein:NP_001177317, RefSeq Protein:NP_005467, RefSeq RNA:NM_001128227, RefSeq RNA:NM_001190383, RefSeq RNA:NM_001190384, RefSeq RNA:NM_001190388, RefSeq RNA:NM_005476, UniProtKB:A6PZH2, UniProtKB:A7UNU7, UniProtKB:Q9Y223 No chr9 36214438 36277053 36214441 36277056 +PA28781 2790 HGNC:4402 ENSG00000242616 G protein subunit gamma 10 GNG10 guanine nucleotide binding protein (G protein), gamma 10 Yes No Ensembl:ENSG00000242616, GenAtlas:GNG10, GeneCard:GNG10, HGNC:HGNC:4402, HumanCyc Gene:HS00735, ModBase:P50151, NCBI Gene:2790, OMIM:604389, RefSeq DNA:NT_008470, RefSeq Protein:NP_001017998, RefSeq Protein:NP_001185593, RefSeq RNA:NM_001017998, RefSeq RNA:NM_001198664, UCSC Genome Browser:NM_004125, UniProtKB:P50151 No chr9 114423851 114432526 111661571 111670246 +PA28782 2791 HGNC:4403 ENSG00000127920 G protein subunit gamma 11 GNG11 """G protein gamma-11 subunit"", ""guanine nucleotide binding protein (G protein), gamma 11"", ""guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit""" GNGT11 Yes No Comparative Toxicogenomics Database:2791, Ensembl:ENSG00000127920, GenAtlas:GNG11, GeneCard:GNG11, HGNC:HGNC:4403, HumanCyc Gene:HS05135, ModBase:P61952, NCBI Gene:2791, OMIM:604390, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_004117, RefSeq RNA:NM_004126, UCSC Genome Browser:NM_004126, UniProtKB:P61952, UniProtKB:Q53Y01 No chr7 93551016 93555826 93921704 93926514 +PA134956700 55970 HGNC:19663 ENSG00000172380 G protein subunit gamma 12 GNG12 guanine nucleotide binding protein (G protein), gamma 12 Yes No Comparative Toxicogenomics Database:55970, Ensembl:ENSG00000172380, GeneCard:GNG12, HGNC:HGNC:19663, HumanCyc Gene:HS10508, ModBase:Q9UBI6, NCBI Gene:55970, RefSeq DNA:NT_032977, RefSeq Protein:NP_061329, RefSeq RNA:NM_018841, UniProtKB:Q69YP5, UniProtKB:Q9UBI6 No chr1 68167149 68299436 67701466 67833779 +PA28783 51764 HGNC:14131 ENSG00000127588 G protein subunit gamma 13 GNG13 """G gamma subunit, clone:h2-35"", ""guanine nucleotide binding protein (G protein), gamma 13""" G(gamma)13, h2-35 Yes No Comparative Toxicogenomics Database:51764, Ensembl:ENSG00000127588, GenAtlas:GNG13, GeneCard:GNG13, HGNC:HGNC:14131, HumanCyc Gene:HS05119, ModBase:Q9P2W3, NCBI Gene:51764, OMIM:607298, RefSeq DNA:NT_010393, RefSeq Protein:NP_057625, RefSeq RNA:NM_016541, UCSC Genome Browser:NM_016541, UniProtKB:Q9P2W3 No chr16 848041 850733 798041 800733 +PA166181533 105372280 HGNC:53439 ENSG00000283980 G protein subunit gamma 14 GNG14 Yes No Ensembl:ENSG00000283980, HGNC:HGNC:53439, NCBI Gene:105372280 No 0 0 0 0 +PA28784 54331 HGNC:4404 ENSG00000186469 G protein subunit gamma 2 GNG2 guanine nucleotide binding protein (G protein), gamma 2 Yes No Comparative Toxicogenomics Database:54331, Ensembl:ENSG00000186469, GenAtlas:GNG2, GeneCard:GNG2, HGNC:HGNC:4404, ModBase:P59768, NCBI Gene:54331, OMIM:606981, RefSeq DNA:NT_026437, RefSeq Protein:NP_444292, RefSeq RNA:NM_053064, UniProtKB:P59768 No chr14 52327022 52436518 51847131 51969800 +PA28785 2785 HGNC:4405 ENSG00000162188 G protein subunit gamma 3 GNG3 """NBP gamma-3"", ""guanine nucleotide binding protein (G protein), gamma 3"", ""guanine nucleotide-binding protein gamma-3 subunit""" Yes No Comparative Toxicogenomics Database:2785, Ensembl:ENSG00000162188, GenAtlas:GNG3, GeneCard:GNG3, HGNC:HGNC:4405, HumanCyc Gene:HS08649, ModBase:P63215, NCBI Gene:2785, OMIM:608941, RefSeq DNA:NT_167190, RefSeq Protein:NP_036334, RefSeq RNA:NM_012202, UCSC Genome Browser:NM_012202, UniProtKB:P63215 No chr11 62475066 62476678 62707255 62709206 +PA28786 2786 HGNC:4407 ENSG00000168243 G protein subunit gamma 4 GNG4 guanine nucleotide binding protein (G protein), gamma 4 Yes No Comparative Toxicogenomics Database:2786, Ensembl:ENSG00000168243, GenAtlas:GNG4, GeneCard:GNG4, HGNC:HGNC:4407, HumanCyc Gene:HS09715, ModBase:P50150, NCBI Gene:2786, OMIM:604388, RefSeq DNA:NT_167186, RefSeq Protein:NP_001092191, RefSeq Protein:NP_001092192, RefSeq Protein:NP_004476, RefSeq RNA:NM_001098721, RefSeq RNA:NM_001098722, RefSeq RNA:NM_004485, UCSC Genome Browser:NM_004485, UniProtKB:B1APZ0, UniProtKB:P50150 No chr1 235710985 235814054 235547685 235650754 +PA28787 2787 HGNC:4408 ENSG00000174021 G protein subunit gamma 5 GNG5 guanine nucleotide binding protein (G protein), gamma 5 Yes No Comparative Toxicogenomics Database:2787, Ensembl:ENSG00000174021, GenAtlas:GNG5, GeneCard:GNG5, HGNC:HGNC:4408, HumanCyc Gene:HS10757, ModBase:P63218, NCBI Gene:2787, OMIM:600874, RefSeq DNA:NT_032977, RefSeq Protein:NP_005265, RefSeq RNA:NM_005274, UCSC Genome Browser:NM_005274, UniProtKB:P63218 No chr1 84964006 84972262 84498323 84506579 +PA166351821 347687 HGNC:24826 G protein subunit gamma 5B GNG5B GNG5P2 Yes No HGNC:HGNC:24826, NCBI Gene:347687 No 0 0 0 0 +PA28788 2789 HGNC:4409 ENSG00000213536 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 1 GNG5P1 Yes No Ensembl:ENSG00000213536, GenAtlas:GNG5P, GeneCard:GNG5P1, HGNC:HGNC:4409, NCBI Gene:2789, RefSeq DNA:NG_006561, RefSeq DNA:NT_007422, RefSeq DNA:NT_025741 No chr6 166653416 166654027 166239928 166240557 +PA28789 2788 HGNC:4410 ENSG00000176533 G protein subunit gamma 7 GNG7 guanine nucleotide binding protein (G protein), gamma 7 FLJ00058 Yes No Comparative Toxicogenomics Database:2788, Ensembl:ENSG00000176533, GenAtlas:GNG7, GeneCard:GNG7, HGNC:HGNC:4410, HumanCyc Gene:HS05320, ModBase:O60262, NCBI Gene:2788, OMIM:604430, RefSeq DNA:NT_011255, RefSeq Protein:NP_443079, RefSeq RNA:NM_052847, UCSC Genome Browser:NM_005145, UniProtKB:O60262 No chr19 2511218 2702746 2511219 2702748 +PA134921496 94235 HGNC:19664 ENSG00000167414 G protein subunit gamma 8 GNG8 guanine nucleotide binding protein (G protein), gamma 8 Yes No Comparative Toxicogenomics Database:94235, Ensembl:ENSG00000167414, GeneCard:GNG8, HGNC:HGNC:19664, HumanCyc Gene:HS09557, ModBase:Q9UK08, NCBI Gene:94235, RefSeq DNA:NT_011109, RefSeq Protein:NP_150283, RefSeq RNA:NM_033258, UniProtKB:Q9UK08 No chr19 47137333 47137939 46633953 46639326 +PA28790 2792 HGNC:4411 ENSG00000127928 G protein subunit gamma transducin 1 GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 GNG1 Yes No Comparative Toxicogenomics Database:2792, Ensembl:ENSG00000127928, GenAtlas:GNGT1, GeneCard:GNGT1, HGNC:HGNC:4411, HumanCyc Gene:HS05137, ModBase:P63211, NCBI Gene:2792, OMIM:189970, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_068774, RefSeq RNA:NM_021955, UCSC Genome Browser:NM_021955, UniProtKB:P63211 No chr7 93535820 93540485 93906508 93911173 +PA28791 2793 HGNC:4412 ENSG00000167083 G protein subunit gamma transducin 2 GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 GNG9 Yes No Comparative Toxicogenomics Database:2793, Ensembl:ENSG00000167083, GenAtlas:GNGT2, GeneCard:GNGT2, HGNC:HGNC:4412, HumanCyc Gene:HS09507, ModBase:O14610, NCBI Gene:2793, OMIM:603655, RefSeq DNA:NG_009841, RefSeq DNA:NT_010783, RefSeq Protein:NP_001185683, RefSeq Protein:NP_001185684, RefSeq Protein:NP_001185685, RefSeq Protein:NP_113686, RefSeq RNA:NM_001198754, RefSeq RNA:NM_001198755, RefSeq RNA:NM_001198756, RefSeq RNA:NM_031498, UCSC Genome Browser:NM_031498, UniProtKB:O14610 No chr17 47283596 47287936 49206234 49210574 +PA28792 2794 HGNC:4413 ENSG00000204590, ENSG00000206492, ENSG00000226882, ENSG00000228581, ENSG00000229470, ENSG00000232143, ENSG00000235986 G protein nucleolar 1 (putative) GNL1 guanine nucleotide binding protein-like 1 HSR1 Yes No Ensembl:ENSG00000204590, Ensembl:ENSG00000206492, Ensembl:ENSG00000226882, Ensembl:ENSG00000228581, Ensembl:ENSG00000229470, Ensembl:ENSG00000232143, Ensembl:ENSG00000235986, GenAtlas:GNL1, GeneCard:GNL1, HGNC:HGNC:4413, ModBase:P36915, NCBI Gene:2794, OMIM:143024, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_005266, RefSeq RNA:NM_005275, UCSC Genome Browser:NM_005275, UniProtKB:B4DYK6, UniProtKB:P36915 No chr6 30509154 30525371 30541377 30557594 +PA134944852 29889 HGNC:29925 ENSG00000134697 G protein nucleolar 2 GNL2 guanine nucleotide binding protein-like 2 (nucleolar), nucleostemin-2 HUMAUANTIG, Ngp-1, Nog2, Nug2 Yes No Comparative Toxicogenomics Database:29889, Ensembl:ENSG00000134697, GeneCard:GNL2, HGNC:HGNC:29925, HumanCyc Gene:HS05901, ModBase:Q13823, NCBI Gene:29889, OMIM:609365, RefSeq DNA:NT_032977, RefSeq Protein:NP_037417, RefSeq RNA:NM_013285, UniProtKB:Q13823, UniProtKB:Q5T0F3 No chr1 38032413 38061586 37566812 37595985 +PA134952132 26354 HGNC:29931 ENSG00000163938 G protein nucleolar 3 GNL3 guanine nucleotide binding protein-like 3 (nucleolar) C77032, E2IG3, MGC800, NS, Nug1, nucleostemin Yes Yes Comparative Toxicogenomics Database:26354, Ensembl:ENSG00000163938, GeneCard:GNL3, HGNC:HGNC:29931, HumanCyc Gene:HS15127, ModBase:Q9BVP2, NCBI Gene:26354, OMIM:608011, RefSeq DNA:NT_022517, RefSeq Protein:NP_055181, RefSeq Protein:NP_996561, RefSeq Protein:NP_996562, RefSeq RNA:NM_014366, RefSeq RNA:NM_206825, RefSeq RNA:NM_206826, UniProtKB:Q9BVP2 No chr3 52719936 52728513 52685920 52694497 +PA134922876 54552 HGNC:25553 ENSG00000130119 G protein nucleolar 3 like GNL3L G protein nucleolar 3B, guanine nucleotide binding protein-like 3 (nucleolar)-like FLJ10613, GNL3B Yes No Comparative Toxicogenomics Database:54552, Ensembl:ENSG00000130119, GeneCard:GNL3L, HGNC:HGNC:25553, HumanCyc Gene:HS05341, ModBase:Q9NVN8, NCBI Gene:54552, RefSeq DNA:NG_021314, RefSeq DNA:NT_011630, RefSeq Protein:NP_001171748, RefSeq Protein:NP_061940, RefSeq RNA:NM_001184819, RefSeq RNA:NM_019067, UniProtKB:Q9NVN8 No chrX 54556644 54593720 54530211 54567287 +PA28793 10578 HGNC:4414 ENSG00000115523 granulysin GNLY T-lymphocyte activation gene 519 D2S69E, LAG-2, LAG2, NKG5, TLA519 Yes No Ensembl:ENSG00000115523, GenAtlas:GNLY, GeneCard:GNLY, HGNC:HGNC:4414, HumanCyc Gene:HS03902, ModBase:P22749, NCBI Gene:10578, OMIM:188855, RefSeq DNA:NT_022184, RefSeq Protein:NP_006424, RefSeq Protein:NP_036615, RefSeq RNA:NM_006433, RefSeq RNA:NM_012483, UCSC Genome Browser:NM_006433, UniProtKB:P22749 No chr2 85921414 85925967 85694291 85698854 +PA28794 27232 HGNC:4415 ENSG00000124713 glycine N-methyltransferase GNMT Yes Yes Comparative Toxicogenomics Database:27232, Ensembl:ENSG00000124713, GenAtlas:GNMT, GeneCard:GNMT, HGNC:HGNC:4415, HumanCyc Gene:HS04819, ModBase:Q14749, NCBI Gene:27232, OMIM:606628, OMIM:606664, RefSeq DNA:NG_008396, RefSeq DNA:NT_007592, RefSeq Protein:NP_061833, RefSeq RNA:NM_018960, UCSC Genome Browser:NM_018960, UniProtKB:Q14749 No chr6 42928500 42931618 42960754 42963880 +PA28795 8443 HGNC:4416 ENSG00000116906 glyceronephosphate O-acyltransferase GNPAT dihydroxyacetone phosphate acyltransferase, glycerone-phosphate O-acyltransferase DAP-AT, DAPAT, DHAPAT Yes No Comparative Toxicogenomics Database:8443, Ensembl:ENSG00000116906, GenAtlas:GNPAT, GeneCard:GNPAT, HGNC:HGNC:4416, HumanCyc Gene:HS04068, ModBase:O15228, NCBI Gene:8443, OMIM:222765, OMIM:602744, RefSeq DNA:NG_008240, RefSeq DNA:NT_167186, RefSeq Protein:NP_055051, RefSeq RNA:NM_014236, UCSC Genome Browser:NM_014236, UniProtKB:O15228 No chr1 231376919 231413719 231241173 231277973 +PA28796 10007 HGNC:4417 ENSG00000113552 glucosamine-6-phosphate deaminase 1 GNPDA1 glucosamine-6-phosphate deaminase, oscillin GNPDA, GNPI, GPI, HLN, KIAA0060 Yes No Ensembl:ENSG00000113552, GenAtlas:GNPDA1, GeneCard:GNPDA1, HGNC:HGNC:4417, HumanCyc Gene:HS03692, ModBase:P46926, NCBI Gene:10007, OMIM:601798, RefSeq DNA:NT_029289, RefSeq Protein:NP_005462, RefSeq RNA:NM_005471, UCSC Genome Browser:NM_005471, UniProtKB:P46926 No chr5 141380234 141392620 142000669 142013055 +PA134939177 132789 HGNC:21526 ENSG00000163281 glucosamine-6-phosphate deaminase 2 GNPDA2 glucosamine-6-phosphate isomerase SB52 Yes No Ensembl:ENSG00000163281, GeneCard:GNPDA2, HGNC:HGNC:21526, HumanCyc Gene:HS08817, ModBase:Q8TDQ7, NCBI Gene:132789, OMIM:613222, RefSeq DNA:NT_006238, RefSeq Protein:NP_612208, RefSeq RNA:NM_138335, UniProtKB:Q8TDQ7 No chr4 44694190 44728651 44701795 44726634 +PA134901326 64841 HGNC:19980 ENSG00000100522 glucosamine-phosphate N-acetyltransferase 1 GNPNAT1 FLJ10607, Gpnat1 Yes No Comparative Toxicogenomics Database:64841, Ensembl:ENSG00000100522, GeneCard:GNPNAT1, HGNC:HGNC:19980, HumanCyc Gene:HS11980, ModBase:Q96EK6, NCBI Gene:64841, RefSeq DNA:NT_026437, RefSeq Protein:NP_932332, RefSeq RNA:NM_198066, UniProtKB:Q96EK6 No chr14 53241911 53258386 52775193 52791668 +PA128394710 79158 HGNC:29670 ENSG00000111670 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits GNPTA, KIAA1208, MGC4170 Yes No Comparative Toxicogenomics Database:79158, Ensembl:ENSG00000111670, GeneCard:GNPTAB, HGNC:HGNC:29670, HumanCyc Gene:HS03442, ModBase:Q3T906, NCBI Gene:79158, OMIM:252500, OMIM:252600, OMIM:607840, RefSeq DNA:NG_021243, RefSeq DNA:NT_029419, RefSeq Protein:NP_077288, RefSeq RNA:NM_024312, UCSC Genome Browser:NM_024312, UniProtKB:Q3T906 No chr12 102139275 102224645 101745497 101830867 +PA134990433 84572 HGNC:23026 ENSG00000090581 N-acetylglucosamine-1-phosphate transferase subunit gamma GNPTG """GlcNAc-phosphotransferase gamma-subunit"", ""N-acetylglucosamine-1-phosphate transferase, gamma subunit""" C16orf27, CAB56184, GNPTAG, c316G12.3 Yes No Comparative Toxicogenomics Database:84572, Ensembl:ENSG00000090581, GeneCard:GNPTG, HGNC:HGNC:23026, HumanCyc Gene:HS12331, ModBase:Q9UJJ9, NCBI Gene:84572, OMIM:252605, OMIM:607838, RefSeq DNA:NG_016985, RefSeq DNA:NT_010393, RefSeq Protein:NP_115909, RefSeq RNA:NM_032520, UniProtKB:Q9UJJ9 No chr16 1401900 1413352 1351899 1363351 +PA28798 2796 HGNC:4419 ENSG00000147437 gonadotropin releasing hormone 1 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone), progonadoliberin-1 GNRH, GRH, LHRH Yes No Comparative Toxicogenomics Database:2796, Ensembl:ENSG00000147437, GenAtlas:GNRH1, GeneCard:GNRH1, HGNC:HGNC:4419, HumanCyc Gene:HS07433, ModBase:P01148, NCBI Gene:2796, OMIM:152760, RefSeq DNA:NG_016457, RefSeq DNA:NT_167187, RefSeq Protein:NP_000816, RefSeq Protein:NP_001076580, RefSeq RNA:NM_000825, RefSeq RNA:NM_001083111, UCSC Genome Browser:NM_000825, UniProtKB:P01148 No chr8 25276774 25282556 25419258 25425040 +PA28799 2797 HGNC:4420 ENSG00000125787 gonadotropin releasing hormone 2 GNRH2 gonadotropin-releasing hormone 2, progonadoliberin-2 Yes No Comparative Toxicogenomics Database:2797, Ensembl:ENSG00000125787, GenAtlas:GNRH2, GeneCard:GNRH2, HGNC:HGNC:4420, HumanCyc Gene:HS04932, NCBI Gene:2797, OMIM:602352, RefSeq DNA:NT_011387, RefSeq Protein:NP_001492, RefSeq Protein:NP_847901, RefSeq Protein:NP_847902, RefSeq RNA:NM_001501, RefSeq RNA:NM_178331, RefSeq RNA:NM_178332, UCSC Genome Browser:NM_001501, UniProtKB:O43555, UniProtKB:Q9HBX7 No chr20 3024268 3026391 3039061 3045896 +PA28800 2798 HGNC:4421 ENSG00000109163 gonadotropin releasing hormone receptor GNRHR gonadotropin-releasing hormone receptor GRHR, LHRHR Yes No Comparative Toxicogenomics Database:2798, Ensembl:ENSG00000109163, GenAtlas:GNRHR, GeneCard:GNRHR, HGNC:HGNC:4421, HumanCyc Gene:HS03207, IUPHAR Receptor:256, ModBase:P30968, NCBI Gene:2798, OMIM:138850, OMIM:228300, RefSeq DNA:NG_009293, RefSeq DNA:NT_022778, RefSeq Protein:NP_000397, RefSeq Protein:NP_001012781, RefSeq RNA:NM_000406, RefSeq RNA:NM_001012763, UCSC Genome Browser:NM_000406, UniProtKB:P30968 No chr4 68603093 68621804 67737375 67756086 +PA28801 114814 HGNC:16341 ENSG00000211451 gonadotropin-releasing hormone (type 2) receptor 2 GNRHR2 Yes No Ensembl:ENSG00000211451, GenAtlas:GNRHR2, GeneCard:GNRHR2, HGNC:HGNC:16341, IUPHAR Receptor:257, NCBI Gene:114814, OMIM:612875, RefSeq DNA:NT_167185, RefSeq RNA:NR_002328, UCSC Genome Browser:NM_057163 No chr1 145509820 145516076 145919013 145925341 +PA28802 2799 HGNC:4422 ENSG00000135677 glucosamine (N-acetyl)-6-sulfatase GNS N-acetylglucosamine-6-sulfatase, Sanfilippo disease IIID Yes No Comparative Toxicogenomics Database:2799, Ensembl:ENSG00000135677, GenAtlas:GNS, GeneCard:GNS, HGNC:HGNC:4422, HumanCyc Gene:HS06046, ModBase:P15586, NCBI Gene:2799, OMIM:252940, OMIM:607664, RefSeq DNA:NG_008955, RefSeq DNA:NT_029419, RefSeq Protein:NP_002067, RefSeq RNA:NM_002076, UCSC Genome Browser:NM_002076, UniProtKB:P15586, UniProtKB:Q7Z3X3 No chr12 65107222 65153226 64713442 64759446 +PA28804 2800 HGNC:4424 ENSG00000136935 golgin A1 GOLGA1 MGC33154, golgin-97 Yes No Comparative Toxicogenomics Database:2800, Ensembl:ENSG00000136935, GenAtlas:GOLGA1, GeneCard:GOLGA1, HGNC:HGNC:4424, HumanCyc Gene:HS06249, ModBase:Q92805, NCBI Gene:2800, OMIM:602502, RefSeq DNA:NT_008470, RefSeq Protein:NP_002068, RefSeq RNA:NM_002077, UCSC Genome Browser:NM_002077, UniProtKB:Q92805 No chr9 127640573 127703386 124878294 124941114 +PA28805 2801 HGNC:4425 ENSG00000167110 golgin A2 GOLGA2 Golgi matrix protein GM130, SY11 protein GM130, golgin-95 Yes No Comparative Toxicogenomics Database:2801, Ensembl:ENSG00000167110, GenAtlas:GOLGA2, GeneCard:GOLGA2, HGNC:HGNC:4425, HumanCyc Gene:HS09512, ModBase:Q08379, NCBI Gene:2801, OMIM:602580, RefSeq DNA:NT_008470, RefSeq Protein:NP_004477, RefSeq RNA:NM_004486, UCSC Genome Browser:NM_004486, UniProtKB:Q08379 No chr9 131018108 131038286 128255829 128276007 +PA142671726 100418751 HGNC:31052 ENSG00000205333 golgin A2 pseudogene 1 GOLGA2P1 Yes No Ensembl:ENSG00000205333, GeneCard:GOLGA2P1, HGNC:HGNC:31052, NCBI Gene:100418751 No chr8 87669612 87672517 86657233 86660335 +PA28806 84559 HGNC:16479 ENSG00000239533 golgin A2 pseudogene 2, Y-linked GOLGA2P2Y Yes No Ensembl:ENSG00000239533, GenAtlas:GOLGA2LY1, GeneCard:GOLGA2P2Y, HGNC:HGNC:16479, NCBI Gene:84559, OMIM:400035, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_001555 No chrY 26356114 26360978 24209967 24214831 +PA142671725 401634 HGNC:32426 ENSG00000172297, ENSG00000172332 golgin A2 pseudogene 3, Y-linked GOLGA2P3Y Yes No Ensembl:ENSG00000172297, Ensembl:ENSG00000172332, HGNC:HGNC:32426, NCBI Gene:401634, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_002195 No chrY 27601458 27606322 25455311 25460175 +PA165378337 100873742 HGNC:38600 ENSG00000229608 golgin A2 pseudogene 4 GOLGA2P4 Yes No Ensembl:ENSG00000229608, HGNC:HGNC:38600, NCBI Gene:100873742 No chr22 43180465 43180572 42784459 42784566 +PA165512779 55592 HGNC:25315 ENSG00000238105 golgin A2 pseudogene 5 GOLGA2P5 DKFZp434M0331 Yes No Ensembl:ENSG00000238105, GeneCard:GOLGA2B, HGNC:HGNC:25315, HumanCyc Gene:HS13005, NCBI Gene:55592, RefSeq DNA:NT_019546, RefSeq DNA:NT_029419, RefSeq Protein:NP_060070, RefSeq RNA:NM_017600, RefSeq RNA:NR_024261, RefSeq RNA:NR_036632, UniProtKB:Q9HBQ8 No chr12 100550169 100567121 100156391 100173343 +PA28807 2802 HGNC:4426 ENSG00000090615 golgin A3 GOLGA3 Golgi complex-associated protein of 170 kD, SY2/SY10 protein GCP170, MEA-2, golgin-160 Yes No Ensembl:ENSG00000090615, GenAtlas:GOLGA3, GeneCard:GOLGA3, HGNC:HGNC:4426, HumanCyc Gene:HS01699, ModBase:Q08378, NCBI Gene:2802, OMIM:602581, RefSeq DNA:NT_024477, RefSeq Protein:NP_001166028, RefSeq Protein:NP_005886, RefSeq RNA:NM_001172557, RefSeq RNA:NM_005895, UCSC Genome Browser:NM_005895, UniProtKB:Q08378 No chr12 133345495 133405659 132768909 132829131 +PA28808 2803 HGNC:4427 ENSG00000144674 golgin A4 GOLGA4 golgin 245 GCP2, GOLG, golgin-240, p230 Yes No Comparative Toxicogenomics Database:2803, Ensembl:ENSG00000144674, GenAtlas:GOLGA4, GeneCard:GOLGA4, HGNC:HGNC:4427, HumanCyc Gene:HS07192, ModBase:Q13439, NCBI Gene:2803, OMIM:602509, RefSeq DNA:NT_022517, RefSeq Protein:NP_001166184, RefSeq Protein:NP_002069, RefSeq RNA:NM_001172713, RefSeq RNA:NM_002078, UCSC Genome Browser:NM_002078, UniProtKB:Q13439, UniProtKB:Q49A56, UniProtKB:Q59EW8 No chr3 37284682 37408370 37243191 37366879 +PA134863174 192131 HGNC:18660 golgin A4 pseudogene 1 GOLGA4P1 Yes No GeneCard:GOLGA4P1, HGNC:HGNC:18660, NCBI Gene:192131, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106813213 106813726 106357284 106357797 +PA134913181 192132 HGNC:20727 golgin A4 pseudogene 2 GOLGA4P2 Yes No GeneCard:GOLGA4P2, HGNC:HGNC:20727, NCBI Gene:192132 No chr14 106788488 106789003 106332236 106333081 +PA28809 9950 HGNC:4428 ENSG00000066455 golgin A5 GOLGA5 golgi integral membrane protein 5 GOLIM5, golgin-84, ret-II, rfg5 Yes No Comparative Toxicogenomics Database:9950, Ensembl:ENSG00000066455, GenAtlas:GOLGA5, GeneCard:GOLGA5, HGNC:HGNC:4428, HumanCyc Gene:HS00880, ModBase:Q8TBA6, NCBI Gene:9950, OMIM:188550, OMIM:606918, RefSeq DNA:NG_023248, RefSeq DNA:NT_026437, RefSeq Protein:NP_005104, RefSeq RNA:NM_005113, UCSC Genome Browser:NM_005113, UniProtKB:Q8TBA6 No chr14 93260576 93306308 92794231 92839963 +PA38364 342096 HGNC:13567 ENSG00000159289 golgin A6 family member A GOLGA6A golgin A6 family, member A GLP, GOLGA6 Yes No Ensembl:ENSG00000159289, GenAtlas:GOLGA6, GeneCard:GOLGA6, GeneCard:GOLGA6A, HGNC:HGNC:13567, ModBase:Q9NYA3, NCBI Gene:342096, OMIM:610288, RefSeq DNA:NT_010194, RefSeq Protein:NP_001033729, RefSeq RNA:NM_001038640, UCSC Genome Browser:NM_018652, UniProtKB:A2VDJ1, UniProtKB:Q9NYA3 No chr15 74362198 74374891 74069857 74082550 +PA162389878 55889 HGNC:32205 ENSG00000215186 golgin A6 family member B GOLGA6B golgin A6 family, member B Yes No Ensembl:ENSG00000215186, GeneCard:GOLGA6B, HGNC:HGNC:32205, HumanCyc Gene:HS14752, NCBI Gene:55889, RefSeq DNA:NT_010194, RefSeq Protein:NP_061122, RefSeq RNA:NM_018652, UniProtKB:A6NDN3 No chr15 72947038 72959738 72638291 72669604 +PA162389919 653641 HGNC:32206 ENSG00000167195 golgin A6 family member C GOLGA6C golgin A6 family, member C Yes No Ensembl:ENSG00000167195, GeneCard:GOLGA6C, HGNC:HGNC:32206, ModBase:A6NDK9, NCBI Gene:653641, RefSeq DNA:NT_010194, RefSeq Protein:NP_001157876, RefSeq Protein:XP_496076, RefSeq RNA:NM_001164404, RefSeq RNA:XM_496076, UniProtKB:A6NDK9 No chr15 75550899 75565796 75258404 75273455 +PA162389960 653643 HGNC:32204 ENSG00000140478 golgin A6 family member D GOLGA6D golgin A6 family, member D Yes No Ensembl:ENSG00000140478, GeneCard:GOLGA6D, HGNC:HGNC:32204, NCBI Gene:653643, RefSeq DNA:NT_010194, RefSeq Protein:NP_001138696, RefSeq RNA:NM_001145224, UniProtKB:P0CG33 No chr15 75575182 75588148 75282841 75295807 +PA165478683 283767 HGNC:37444 ENSG00000273976 golgin A6 family like 1 GOLGA6L1 golgin A6 family-like 1 Yes No Ensembl:ENSG00000273976, GeneCard:GOLGA6L1, HGNC:HGNC:37444, NCBI Gene:283767, RefSeq DNA:NT_078094, RefSeq Protein:NP_001001413, RefSeq RNA:NM_001001413 No chr15 22736246 22746002 23127066 23136839 +PA165478685 647042 HGNC:37228 ENSG00000196648, ENSG00000197978, ENSG00000205281 golgin A6 family like 10 GOLGA6L10 golgin A6 family-like 10 GOLGA6L18 Yes No Ensembl:ENSG00000196648, Ensembl:ENSG00000197978, Ensembl:ENSG00000205281, GeneCard:GOLGA6L10, HGNC:HGNC:37228, NCBI Gene:647042, RefSeq DNA:NT_010194, RefSeq Protein:NP_001157937, RefSeq Protein:XP_001726948, RefSeq Protein:XP_002343371, RefSeq RNA:NM_001164465, RefSeq RNA:XM_001726896, RefSeq RNA:XM_002343330, UniProtKB:A6NI86 No chr15 82632347 82641706 82339993 82349475 +PA166123690 101927601 HGNC:49416 golgin A6 family like 19 GOLGA6L19 golgin A6 family-like 19 Yes No HGNC:HGNC:49416, NCBI Gene:101927601 No +PA165478727 283685 HGNC:26695 ENSG00000174450 golgin A6 family like 2 GOLGA6L2 cancer/testis antigen 105, golgin A6 family-like 2 CT105, FLJ36144 Yes No Ensembl:ENSG00000174450, GeneCard:GOLGA6L2, HGNC:HGNC:26695, NCBI Gene:283685, RefSeq DNA:NT_026446, RefSeq Protein:XP_002343363, RefSeq Protein:XP_002344862, RefSeq Protein:XP_002347552, RefSeq RNA:XM_002343322, RefSeq RNA:XM_002344821, RefSeq RNA:XM_002347511 No chr15 23684535 23692390 23439386 23447243 +PA166123691 440243 HGNC:50289 ENSG00000277865 golgin A6 family like 22 GOLGA6L22 golgin A6 family-like 22 Yes No Ensembl:ENSG00000277865, HGNC:HGNC:50289, NCBI Gene:440243 No +PA166351822 645202 HGNC:55710 golgin A6 family like 24 GOLGA6L24 GOLGA6L24P Yes No HGNC:HGNC:55710, NCBI Gene:645202 No 0 0 0 0 +PA166351823 100132202 HGNC:55711 golgin A6 family like 25 GOLGA6L25 GOLGA6L25P Yes No HGNC:HGNC:55711, NCBI Gene:100132202 No 0 0 0 0 +PA166351824 102723623 HGNC:56306 golgin A6 family like 26 GOLGA6L26 Yes No HGNC:HGNC:56306, NCBI Gene:102723623 No 0 0 0 0 +PA165478787 100133220 HGNC:37441 ENSG00000188388 golgin A6 family-like 3 GOLGA6L3 Yes No Ensembl:ENSG00000188388, GeneCard:GOLGA6L3, HGNC:HGNC:37441, NCBI Gene:100133220, RefSeq DNA:NT_010274, RefSeq Protein:XP_002343432, RefSeq Protein:XP_002346263, RefSeq Protein:XP_003118727, RefSeq RNA:XM_002343391, RefSeq RNA:XM_002346222, RefSeq RNA:XM_003118679 No chr15 85783641 85790430 85240410 85247187 +PA165478845 643707 HGNC:27256 ENSG00000184206 golgin A6 family like 4 GOLGA6L4 golgin A6 family-like 4 Yes No Ensembl:ENSG00000184206, GeneCard:GOLGA6L4, HGNC:HGNC:27256, NCBI Gene:643707, RefSeq DNA:NT_077661, RefSeq Protein:XP_934123, RefSeq RNA:XM_929030 No chr15 84904525 84914120 84235773 84245368 +PA165478846 727832 HGNC:37225 ENSG00000277322 golgin A6 family like 6 (gene/pseudogene) GOLGA6L6 golgin A6 family like 6, golgin A6 family-like 6 FLJ36131 Yes No Ensembl:ENSG00000277322, GeneCard:GOLGA6L6, HGNC:HGNC:37225, NCBI Gene:727832, RefSeq DNA:NT_037852, RefSeq Protein:NP_001138476, RefSeq RNA:NM_001145004 No chr15 20737094 20747114 20531856 20541800 +PA166181534 728310 HGNC:37442 ENSG00000261649 golgin A6 family like 7 GOLGA6L7 GOLGA6L7P Yes No Ensembl:ENSG00000261649, HGNC:HGNC:37442, NCBI Gene:728310 No 0 0 0 0 +PA165478891 440295 HGNC:37229 ENSG00000196648, ENSG00000197978 golgin A6 family like 9 GOLGA6L9 golgin A6 family-like 9 GOLGA6L20 Yes No Ensembl:ENSG00000196648, Ensembl:ENSG00000197978, GeneCard:GOLGA6L9, HGNC:HGNC:37229, NCBI Gene:440295, RefSeq DNA:NT_010194, RefSeq Protein:NP_937824, RefSeq RNA:NM_198181 No chr15 82709883 82731587 82429363 82439387 +PA134991547 51125 HGNC:24876 ENSG00000147533 golgin A7 GOLGA7 GCP16, GOLGA3AP1, GOLGA7A, HSPC041 Yes No Comparative Toxicogenomics Database:51125, Ensembl:ENSG00000147533, GeneCard:GOLGA7, HGNC:HGNC:24876, HumanCyc Gene:HS14208, NCBI Gene:51125, OMIM:609453, RefSeq DNA:NT_167187, RefSeq Protein:NP_001002296, RefSeq Protein:NP_001167595, RefSeq Protein:NP_057183, RefSeq RNA:NM_001002296, RefSeq RNA:NM_001174124, RefSeq RNA:NM_016099 No chr8 41348081 41368499 41490562 41510980 +PA164720284 401647 HGNC:31668 ENSG00000155265 golgin A7 family member B GOLGA7B golgin A7 family, member B C10orf132, C10orf133, bA451M19.3, bA459F3.4 Yes No Ensembl:ENSG00000155265, GeneCard:GOLGA7B, HGNC:HGNC:31668, NCBI Gene:401647, RefSeq DNA:NT_030059, RefSeq Protein:NP_001010917, RefSeq RNA:NM_001010917, RefSeq RNA:XR_110442, UniProtKB:Q2TAP0 No chr10 99609995 99631335 97850238 97871578 +PA142671716 23015 HGNC:31972 ENSG00000175265 golgin A8 family member A GOLGA8A golgin A8 family, member A CFAP286, FAP286, GM88, GOLGIN-67 Yes No Comparative Toxicogenomics Database:23015, Ensembl:ENSG00000175265, GeneCard:GOLGA8A, HGNC:HGNC:31972, HumanCyc Gene:HS16451, NCBI Gene:23015, RefSeq DNA:NT_010194, RefSeq Protein:NP_851422, RefSeq RNA:NM_181077, RefSeq RNA:NR_027409 No chr15 34671269 34729667 34379068 34437466 +PA142671717 440270 HGNC:31973 ENSG00000215252 golgin A8 family member B GOLGA8B golgin A8 family, member B Yes No Ensembl:ENSG00000215252, GeneCard:GOLGA8B, HGNC:HGNC:31973, NCBI Gene:440270, OMIM:609619, RefSeq DNA:NT_010194, RefSeq Protein:NP_001018861, RefSeq RNA:NM_001023567, RefSeq RNA:NR_027410, UniProtKB:A8MQT2 No chr15 34817296 34875836 34525276 34583651 +PA142671718 729786 HGNC:32375 ENSG00000181984 golgin A8 family, member C, pseudogene GOLGA8CP Yes No Ensembl:ENSG00000181984, GeneCard:GOLGA8C, HGNC:HGNC:32375, NCBI Gene:729786, RefSeq DNA:NT_037852, RefSeq RNA:NR_027411, RefSeq RNA:XR_078486 No chr15 20767674 20781026 20562349 20575703 +PA142671719 100132979 HGNC:32376 ENSG00000175676 golgin A8 family, member D, pseudogene GOLGA8DP Yes No Ensembl:ENSG00000175676, HGNC:HGNC:32376, NCBI Gene:100132979, RefSeq DNA:NT_078094, RefSeq Protein:XP_001723528, RefSeq Protein:XP_001723530, RefSeq RNA:NR_027407, RefSeq RNA:XM_001723476, RefSeq RNA:XM_001723478, RefSeq RNA:XM_370837, RefSeq RNA:XM_931022 No chr15 22702285 22715728 23157340 23170783 +PA142671720 390535 HGNC:32377 ENSG00000185182 golgin A8 family, member E, pseudogene GOLGA8EP Yes No Ensembl:ENSG00000185182, GeneCard:GOLGA8E, HGNC:HGNC:32377, NCBI Gene:390535, RefSeq DNA:NT_078094, RefSeq Protein:NP_001012423, RefSeq RNA:NM_001012423, RefSeq RNA:NR_033350 No chr15 23435070 23448423 22424673 22438026 +PA142671721 100132565 HGNC:32378 ENSG00000153684 golgin A8 family member F GOLGA8F golgin A8 family, member F DKFZp434P162 Yes No Ensembl:ENSG00000153684, GeneCard:GOLGA8F, HGNC:HGNC:32378, NCBI Gene:100132565, RefSeq DNA:NT_026446, RefSeq Protein:NP_001012455, RefSeq RNA:NM_001012452, RefSeq RNA:NR_033351 No chr15 28623784 28636412 28378638 28391266 +PA142671722 283768 HGNC:25328 ENSG00000183629 golgin A8 family member G GOLGA8G golgin A8 family, member G DKFZp434K052 Yes No Comparative Toxicogenomics Database:283768, Ensembl:ENSG00000183629, GeneCard:GOLGA8G, HGNC:HGNC:25328, NCBI Gene:283768, RefSeq DNA:NT_026446, RefSeq Protein:NP_001012420, RefSeq RNA:NM_001012420, RefSeq RNA:NM_001368078 No chr15 28764757 28778143 28519611 28532997 +PA165478923 728498 HGNC:37443 ENSG00000261794 golgin A8 family member H GOLGA8H """golgi autoantigen, golgin subfamily a, 6-like 11"", ""golgin A8 family, member H""" GOLGA6L11 Yes No Ensembl:ENSG00000261794, GeneCard:GOLGA8H, HGNC:HGNC:37443, NCBI Gene:728498, RefSeq DNA:NT_010194, RefSeq Protein:XP_001724447, RefSeq Protein:XP_002343398, RefSeq Protein:XP_003118722, RefSeq RNA:XM_001724395, RefSeq RNA:XM_002343357, RefSeq RNA:XM_003118674 No chr15 30895562 30909952 30604030 30617827 +PA165478975 653073 HGNC:38650 ENSG00000153666, ENSG00000179938 golgin A8 family member J GOLGA8J golgin A8 family, member J Yes No Ensembl:ENSG00000153666, Ensembl:ENSG00000179938, GeneCard:GOLGA8J, HGNC:HGNC:38650, NCBI Gene:653073, RefSeq DNA:NT_010194, RefSeq Protein:XP_001724434, RefSeq Protein:XP_001724435, RefSeq Protein:XP_002343378, RefSeq RNA:XM_001724382, RefSeq RNA:XM_001724383, RefSeq RNA:XM_002343337, UniProtKB:A6NMD2 No chr15 30375038 30386084 30082627 30096711 +PA166049033 653125 HGNC:38652 ENSG00000249931 golgin A8 family member K GOLGA8K golgin A8 family, member K Yes No Ensembl:ENSG00000249931, HGNC:HGNC:38652, NCBI Gene:653125 No chr15 32681801 32696181 32389585 32403292 +PA166049124 653720 HGNC:44404 ENSG00000261480 golgin A8 family member M GOLGA8M golgin A8 family, member M Yes No Ensembl:ENSG00000261480, HGNC:HGNC:44404, NCBI Gene:653720 No chr15 28943917 28964922 28698695 28718512 +PA166049125 643699 HGNC:44405 ENSG00000232653 golgin A8 family member N GOLGA8N golgin A8 family, member N Yes No Ensembl:ENSG00000232653, HGNC:HGNC:44405, NCBI Gene:643699 No chr15 32885657 32896342 32593456 32607310 +PA166049126 728047 HGNC:44406 ENSG00000206127 golgin A8 family member O GOLGA8O golgin A8 family, member O Yes No Ensembl:ENSG00000206127, HGNC:HGNC:44406, NCBI Gene:728047 No chr15 32734115 32748486 32441914 32456323 +PA166181535 727909 HGNC:44408 ENSG00000178115 golgin A8 family member Q GOLGA8Q Yes No Ensembl:ENSG00000178115, HGNC:HGNC:44408, NCBI Gene:727909 No 0 0 0 0 +PA166049127 101059918 HGNC:44407 ENSG00000186399 golgin A8 family member R GOLGA8R golgin A8 family, member R Yes No Ensembl:ENSG00000186399, HGNC:HGNC:44407, NCBI Gene:101059918 No chr15 30692765 30706479 30400562 30414260 +PA166181536 653061 HGNC:44409 ENSG00000261739 golgin A8 family member S GOLGA8S Yes No Ensembl:ENSG00000261739, HGNC:HGNC:44409, NCBI Gene:653061 No 0 0 0 0 +PA166181537 653075 HGNC:44410 ENSG00000261247 golgin A8 family member T GOLGA8T Yes No Ensembl:ENSG00000261247, HGNC:HGNC:44410, NCBI Gene:653075 No 0 0 0 0 +PA28810 2804 HGNC:4429 ENSG00000173230 golgin B1 GOLGB1 golgi integral membrane protein 1, macrogolgin GCP, GCP372, GOLIM1, giantin Yes No Ensembl:ENSG00000173230, GenAtlas:GOLGB1, GeneCard:GOLGB1, HGNC:HGNC:4429, HumanCyc Gene:HS10634, ModBase:Q14789, NCBI Gene:2804, OMIM:602500, RefSeq DNA:NT_005612, RefSeq Protein:NP_004478, RefSeq RNA:NM_004487, UCSC Genome Browser:NM_004487, UniProtKB:Q14789 No chr3 121382046 121468662 121663199 121749908 +PA162390001 27333 HGNC:15448 ENSG00000173905 golgi integral membrane protein 4 GOLIM4 GIMPC, GOLPH4, GPP130, P138 Yes No Ensembl:ENSG00000173905, GeneCard:GOLIM4, HGNC:HGNC:15448, HumanCyc Gene:HS10747, ModBase:O00461, NCBI Gene:27333, OMIM:606805, RefSeq DNA:NT_005612, RefSeq Protein:NP_055313, RefSeq RNA:NM_014498, UniProtKB:O00461 No chr3 167726457 167813712 168008672 168095925 +PA28811 51280 HGNC:15451 ENSG00000135052 golgi membrane protein 1 GOLM1 C9orf155, FLJ23608, GOLPH2, GP73, bA379P1.3 Yes No Comparative Toxicogenomics Database:51280, Ensembl:ENSG00000135052, GenAtlas:GOLPH2, GeneCard:GOLM1, GeneCard:GOLPH2, HGNC:HGNC:15451, HumanCyc Gene:HS05945, NCBI Gene:51280, OMIM:606804, RefSeq DNA:NT_008470, RefSeq DNA:NT_023935, RefSeq Protein:NP_057632, RefSeq Protein:NP_808800, RefSeq RNA:NM_016548, RefSeq RNA:NM_177937, UCSC Genome Browser:NM_016548, UniProtKB:B3KNK9, UniProtKB:Q8NBJ4 No chr9 88629018 88715116 86026141 86100201 +PA166351825 113201 HGNC:24892 golgi membrane protein 2 GOLM2 CASC4, DKFZp459F1927, H63 Yes No HGNC:HGNC:24892, NCBI Gene:113201 No 0 0 0 0 +PA28812 64083 HGNC:15452 ENSG00000113384 golgi phosphoprotein 3 GOLPH3 """coat-protein"", ""golgi peripheral membrane protein 1, 34 kDa"", ""golgi phosphoprotein 3 (coat-protein)"", ""golgi protein"", ""golgi-associated protein""" GOPP1, GPP34, MIDAS, Vps74 Yes No Comparative Toxicogenomics Database:64083, Ensembl:ENSG00000113384, GenAtlas:GOLPH3, GeneCard:GOLPH3, HGNC:HGNC:15452, HumanCyc Gene:HS12794, ModBase:Q9H4A6, NCBI Gene:64083, OMIM:612207, RefSeq DNA:NT_006576, RefSeq Protein:NP_071413, RefSeq RNA:NM_022130, UCSC Genome Browser:NM_022130, UniProtKB:Q9H4A6 No chr5 32124817 32174425 32124711 32174319 +PA134922683 55204 HGNC:24882 ENSG00000143457 golgi phosphoprotein 3 like GOLPH3L golgi phosphoprotein 3-like GPP34R Yes No Ensembl:ENSG00000143457, GeneCard:GOLPH3L, HGNC:HGNC:24882, HumanCyc Gene:HS13966, ModBase:Q9H4A5, NCBI Gene:55204, OMIM:612208, RefSeq DNA:NT_004487, RefSeq Protein:NP_060648, RefSeq RNA:NM_018178, UniProtKB:Q9H4A5 No chr1 150618701 150669672 150646225 150697196 +PA134874119 127845 HGNC:24766 ENSG00000174567 golgi transport 1A GOLT1A CGI-141, FLJ42654, GOT1, MGC62027, YMR292W Yes No Ensembl:ENSG00000174567, GeneCard:GOLT1A, HGNC:HGNC:24766, ModBase:Q6ZVE7, NCBI Gene:127845, RefSeq DNA:NT_004487, RefSeq Protein:NP_940849, RefSeq RNA:NM_198447, UniProtKB:Q6ZVE7 No chr1 204167288 204183220 204198158 204214092 +PA134898810 51026 HGNC:20175 ENSG00000111711 golgi transport 1B GOLT1B CGI-141, GOT1, YMR292W Yes No Comparative Toxicogenomics Database:51026, Ensembl:ENSG00000111711, GeneCard:GOLT1B, HGNC:HGNC:20175, HumanCyc Gene:HS03450, NCBI Gene:51026, RefSeq DNA:NT_009714, RefSeq Protein:NP_057156, RefSeq RNA:NM_016072, UniProtKB:Q9Y3E0 No chr12 21654699 21671337 21501765 21518403 +PA142671723 54856 HGNC:25973 ENSG00000116580 gon-4 like GON4L YY1AP related protein, gon-4-like (C. elegans) FLJ20203, GON-4, GON4, YARP Yes No Ensembl:ENSG00000116580, GeneCard:GON4L, HGNC:HGNC:25973, HumanCyc Gene:HS04023, ModBase:Q9BQI1, NCBI Gene:54856, OMIM:610393, RefSeq DNA:NT_004487, RefSeq Protein:NP_001032622, RefSeq Protein:NP_115668, RefSeq RNA:NM_001037533, RefSeq RNA:NM_032292, UniProtKB:B7ZBL4, UniProtKB:Q3T8J9, UniProtKB:Q6PHZ4 No chr1 155719450 155829185 155749658 155859400 +PA134918457 84520 HGNC:20356 ENSG00000170270 GON7 subunit of KEOPS complex GON7 """GON7, KEOPS complex subunit"", ""chromosome 14 open reading frame 142""" C14orf142 Yes No Ensembl:ENSG00000170270, GeneCard:C14orf142, HGNC:HGNC:20356, HumanCyc Gene:HS15865, NCBI Gene:84520, RefSeq DNA:NT_026437, RefSeq Protein:NP_115879, RefSeq RNA:NM_032490, UniProtKB:Q9BXV9 No chr14 93669237 93673459 93202892 93207114 +PA134904944 57120 HGNC:17643 ENSG00000047932 golgi associated PDZ and coiled-coil motif containing GOPC golgi-associated PDZ and coiled-coil motif containing CAL, FIG, GOPC1, PIST, dJ94G16.2 Yes No Comparative Toxicogenomics Database:57120, Ensembl:ENSG00000047932, GeneCard:GOPC, HGNC:HGNC:17643, HumanCyc Gene:HS00596, ModBase:Q9HD26, NCBI Gene:57120, OMIM:606845, RefSeq DNA:NT_025741, RefSeq Protein:NP_001017408, RefSeq Protein:NP_065132, RefSeq RNA:NM_001017408, RefSeq RNA:NM_020399, UniProtKB:Q9HD26 No chr6 117881432 117923705 117560269 117602542 +PA164720285 92344 HGNC:25676 ENSG00000120370 golgin, RAB6 interacting GORAB """RAB6-interacting golgin"", ""gerodermia osteodysplastica"", ""golgin, RAB6-interacting""" FLJ11752, GO, NTKL-BP1, SCYL1BP1 Yes No Ensembl:ENSG00000120370, GeneCard:GORAB, HGNC:HGNC:25676, HumanCyc Gene:HS12988, NCBI Gene:92344, OMIM:231070, OMIM:607983, RefSeq DNA:NG_012237, RefSeq DNA:NT_004487, RefSeq Protein:NP_001139511, RefSeq Protein:NP_689494, RefSeq RNA:NM_001146039, RefSeq RNA:NM_152281, RefSeq RNA:NR_027397, UniProtKB:B3KQ87, UniProtKB:Q5T7V8 No chr1 170501263 170522974 170532122 170553834 +PA28814 64689 HGNC:16769 ENSG00000114745 golgi reassembly stacking protein 1 GORASP1 golgi reassembly stacking protein 1, 65kDa FLJ23443, GOLPH5, GRASP65, P65 Yes No Comparative Toxicogenomics Database:64689, Ensembl:ENSG00000114745, GenAtlas:GORASP1, GeneCard:GORASP1, HGNC:HGNC:16769, HumanCyc Gene:HS12826, ModBase:Q9BQQ3, NCBI Gene:64689, OMIM:606867, RefSeq DNA:NT_022517, RefSeq Protein:NP_114105, RefSeq RNA:NM_031899, UCSC Genome Browser:NM_031899, UniProtKB:Q9BQQ3 No chr3 39138090 39149854 39096599 39108363 +PA38457 26003 HGNC:17500 ENSG00000115806 golgi reassembly stacking protein 2 GORASP2 golgi reassembly stacking protein 2, 55kDa GOLPH6, GRASP55, GRS2 Yes No Comparative Toxicogenomics Database:26003, Ensembl:ENSG00000115806, GenAtlas:GORASP2, GeneCard:GORASP2, HGNC:HGNC:17500, HumanCyc Gene:HS03937, ModBase:Q9H8Y8, NCBI Gene:26003, OMIM:608693, RefSeq DNA:NT_005403, RefSeq Protein:NP_001188357, RefSeq Protein:NP_056345, RefSeq RNA:NM_001201428, RefSeq RNA:NM_015530, UCSC Genome Browser:NM_015530, UniProtKB:Q9H8Y8 No chr2 171784948 171823645 170928438 170967135 +PA28815 9527 HGNC:4430 ENSG00000108587 golgi SNAP receptor complex member 1 GOSR1 golgi integral membrane protein 2 GOLIM2, GOS-28, GOS28, GS28, P28 Yes No Comparative Toxicogenomics Database:9527, Ensembl:ENSG00000108587, GenAtlas:GOSR1, GeneCard:GOSR1, HGNC:HGNC:4430, HumanCyc Gene:HS03129, ModBase:O95249, NCBI Gene:9527, OMIM:604026, RefSeq DNA:NT_010799, RefSeq Protein:NP_001007025, RefSeq Protein:NP_001007026, RefSeq Protein:NP_004862, RefSeq RNA:NM_001007024, RefSeq RNA:NM_001007025, RefSeq RNA:NM_004871, UCSC Genome Browser:NM_004871, UniProtKB:O95249 No chr17 28804426 28853832 30477402 30528314 +PA28816 9570 HGNC:4431 ENSG00000108433 golgi SNAP receptor complex member 2 GOSR2 Bos1, GS27 Yes No Comparative Toxicogenomics Database:9570, Ensembl:ENSG00000108433, GenAtlas:GOSR2, GeneCard:GOSR2, HGNC:HGNC:4431, HumanCyc Gene:HS03104, ModBase:O14653, NCBI Gene:9570, OMIM:604027, RefSeq DNA:NT_010783, RefSeq Protein:NP_001012529, RefSeq Protein:NP_004278, RefSeq Protein:NP_473363, RefSeq RNA:NM_001012511, RefSeq RNA:NM_004287, RefSeq RNA:NM_054022, UCSC Genome Browser:NM_004287, UniProtKB:O14653, UniProtKB:Q8N4B8 No chr17 45000486 45044366 46923086 46975519 +PA28817 2805 HGNC:4432 ENSG00000120053 glutamic-oxaloacetic transaminase 1 GOT1 """aspartate aminotransferase 1"", ""aspartate transaminase 1"", ""glutamate oxaloacetate transaminase 1"", ""glutamic-oxaloacetic transaminase 1, soluble"", ""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)""" AST, AST1, SGOT Yes No Comparative Toxicogenomics Database:2805, Ensembl:ENSG00000120053, GenAtlas:GOT1, GeneCard:GOT1, HGNC:HGNC:4432, HumanCyc Gene:HS04361, ModBase:P17174, NCBI Gene:2805, OMIM:138180, RefSeq DNA:NT_030059, RefSeq Protein:NP_002070, RefSeq RNA:NM_002079, UCSC Genome Browser:NM_002079, UniProtKB:P17174 No chr10 101156627 101190530 99396870 99430773 +PA142671724 137362 HGNC:28487 ENSG00000169154 glutamic-oxaloacetic transaminase 1 like 1 GOT1L1 glutamic-oxaloacetic transaminase 1-like 1 MGC33309 Yes No Ensembl:ENSG00000169154, GeneCard:GOT1L1, HGNC:HGNC:28487, HumanCyc Gene:HS09890, ModBase:Q8NHS2, NCBI Gene:137362, RefSeq DNA:NT_167187, RefSeq Protein:NP_689626, RefSeq RNA:NM_152413, UniProtKB:Q8NHS2 No chr8 37791799 37797664 37933548 37940502 +PA28818 2806 HGNC:4433 ENSG00000125166 glutamic-oxaloacetic transaminase 2 GOT2 """aspartate aminotransferase 2"", ""aspartate transaminase 2"", ""glutamic-oxaloacetic transaminase 2, mitochondrial"", ""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"", ""kynurenine aminotransferase IV""" KAT4, KATIV, KYAT4, mAspAT, mitAAT Yes Yes Comparative Toxicogenomics Database:2806, Ensembl:ENSG00000125166, GenAtlas:GOT2, GeneCard:GOT2, HGNC:HGNC:4433, HumanCyc Gene:HS04858, ModBase:P00505, NCBI Gene:2806, OMIM:138150, RefSeq DNA:NT_010498, RefSeq Protein:NP_002071, RefSeq RNA:NM_002080, UCSC Genome Browser:NM_002080, UniProtKB:P00505 No chr16 58741035 58768246 58707131 58734357 +PA28821 644138 glutamic-oxaloacetic transaminase 2-like 3 GOT2L3 Yes No GenAtlas:GOT2L3, GeneCard:GOT2L3, NCBI Gene:644138 No chr12 9794266 9795807 9641670 9643211 +PA28819 645538 HGNC:4434 ENSG00000231900 glutamic-oxaloacetic transaminase 2 pseudogene 1 GOT2P1 glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2) pseudogene Yes No Ensembl:ENSG00000231900, GenAtlas:GOT2L1, GeneCard:GOT2P1, HGNC:HGNC:4434, NCBI Gene:645538, RefSeq DNA:NG_008826, RefSeq DNA:NT_032977 No chr1 55833138 55834447 55367465 55368774 +PA28820 391139 HGNC:4435 ENSG00000230849 glutamic-oxaloacetic transaminase 2 pseudogene 2 GOT2P2 glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)(GOT2) pseudogene Yes No Ensembl:ENSG00000230849, GenAtlas:GOT2L2, GeneCard:GOT2P2, HGNC:HGNC:4435, NCBI Gene:391139, RefSeq DNA:NG_008831, RefSeq DNA:NT_004487 No chr1 173110039 173111511 173140504 173142372 +PA178 2811 HGNC:4439 ENSG00000185245 glycoprotein Ib platelet subunit alpha GP1BA """glycoprotein Ib (platelet), alpha polypeptide"", ""platelet glycoprotein Ib alpha chain""" CD42b, GP1B, GPIbalpha Yes Yes Comparative Toxicogenomics Database:2811, Ensembl:ENSG00000185245, GenAtlas:GP1BA, GeneCard:GP1BA, HGNC:HGNC:4439, HumanCyc Gene:HS10795, ModBase:P07359, NCBI Gene:2811, OMIM:153670, OMIM:177820, OMIM:231200, OMIM:258660, OMIM:606672, RefSeq DNA:NG_008767, RefSeq DNA:NT_010718, RefSeq Protein:NP_000164, RefSeq RNA:NM_000173, UCSC Genome Browser:NM_000173 No chr17 4835312 4838325 4932275 4935030 +PA179 2812 HGNC:4440 ENSG00000203618 glycoprotein Ib platelet subunit beta GP1BB """glycoprotein Ib (platelet), beta polypeptide"", ""platelet glycoprotein Ib beta chain""" CD42c, GPIbbeta Yes No Comparative Toxicogenomics Database:2812, Ensembl:ENSG00000203618, GenAtlas:GP1BB, GeneCard:GP1BB, HGNC:HGNC:4440, ModBase:P13224, NCBI Gene:2812, OMIM:138720, OMIM:231200, RefSeq DNA:NG_007974, RefSeq DNA:NT_011519, RefSeq Protein:NP_000398, RefSeq RNA:NM_000407, UCSC Genome Browser:NM_000407, UniProtKB:P13224 No chr22 19711066 19712297 19723543 19724774 +PA28822 2813 HGNC:4441 ENSG00000169347 glycoprotein 2 GP2 glycoprotein 2 (zymogen granule membrane) ZAP75 Yes No Ensembl:ENSG00000169347, GenAtlas:GP2, GeneCard:GP2, HGNC:HGNC:4441, HumanCyc Gene:HS09931, ModBase:P55259, NCBI Gene:2813, OMIM:602977, RefSeq DNA:NT_010393, RefSeq Protein:NP_001007241, RefSeq Protein:NP_001007242, RefSeq Protein:NP_001007243, RefSeq Protein:NP_001493, RefSeq RNA:NM_001007240, RefSeq RNA:NM_001007241, RefSeq RNA:NM_001007242, RefSeq RNA:NM_001502, UCSC Genome Browser:NM_001502, UniProtKB:P55259, UniProtKB:Q8N1A3 No chr16 20320896 20339684 20309574 20327805 +PA28823 2814 HGNC:4443 ENSG00000178732 glycoprotein V platelet GP5 glycoprotein V (platelet), platelet glycoprotein V CD42d Yes No Ensembl:ENSG00000178732, GenAtlas:GP5, GeneCard:GP5, HGNC:HGNC:4443, HumanCyc Gene:HS11311, ModBase:P40197, NCBI Gene:2814, OMIM:173511, RefSeq DNA:NT_029928, RefSeq Protein:NP_004479, RefSeq RNA:NM_004488, UCSC Genome Browser:NM_004488, UniProtKB:D1MER9, UniProtKB:P40197 No chr3 194115550 194119995 194394821 194399266 +PA28824 51206 HGNC:14388 ENSG00000088053 glycoprotein VI platelet GP6 glycoprotein VI (platelet), platelet glycoprotein VI GPVI Yes Yes Ensembl:ENSG00000088053, GenAtlas:GP6, GeneCard:GP6, HGNC:HGNC:14388, HumanCyc Gene:HS01589, ModBase:Q9HCN6, NCBI Gene:51206, OMIM:605546, RefSeq DNA:NT_011109, RefSeq Protein:NP_001077368, RefSeq Protein:NP_057447, RefSeq RNA:NM_001083899, RefSeq RNA:NM_016363, UCSC Genome Browser:NM_016363, UniProtKB:Q9HCN6 No chr19 55525073 55549632 55013705 55038264 +PA28825 2815 HGNC:4444 ENSG00000169704 glycoprotein IX platelet GP9 glycoprotein IX (platelet), platelet glycoprotein IX CD42a, GPIX Yes No Comparative Toxicogenomics Database:2815, Ensembl:ENSG00000169704, GenAtlas:GP9, GeneCard:GP9, HGNC:HGNC:4444, HumanCyc Gene:HS09991, ModBase:P14770, NCBI Gene:2815, OMIM:173515, OMIM:231200, RefSeq DNA:NG_008715, RefSeq DNA:NT_005612, RefSeq Protein:NP_000165, RefSeq RNA:NM_000174, UCSC Genome Browser:NM_000174, UniProtKB:P14770 No chr3 128775459 128781254 129055449 129062411 +PA28826 10223 HGNC:4445 ENSG00000143167 glycoprotein A33 GPA33 glycoprotein A33 (transmembrane) A33 Yes No Ensembl:ENSG00000143167, GenAtlas:GPA33, GeneCard:GPA33, HGNC:HGNC:4445, HumanCyc Gene:HS07000, ModBase:Q99795, NCBI Gene:10223, OMIM:602171, RefSeq DNA:NT_004487, RefSeq Protein:NP_005805, RefSeq RNA:NM_005814, UCSC Genome Browser:NM_005814, UniProtKB:Q5VZP6, UniProtKB:Q99795 No chr1 167022082 167059868 167052836 167090631 +PA28827 8733 HGNC:4446 ENSG00000197858 glycosylphosphatidylinositol anchor attachment 1 GPAA1 GPI transamidase subunit GAA1, hGAA1 Yes No Comparative Toxicogenomics Database:8733, Ensembl:ENSG00000197858, GenAtlas:GPAA1, GeneCard:GPAA1, HGNC:HGNC:4446, ModBase:O43292, NCBI Gene:8733, OMIM:603048, RefSeq DNA:NT_008046, RefSeq Protein:NP_003792, RefSeq RNA:NM_003801, UCSC Genome Browser:NM_003801, UniProtKB:O43292 No chr8 145137064 145141119 144082621 144086216 +PA28828 22945 HGNC:4447 ENSG00000240069 glycosylphosphatidylinositol anchor attachment 1 pseudogene 1 GPAA1P1 Yes No Ensembl:ENSG00000240069, GenAtlas:GPAA1P1, GeneCard:GPAA1P1, HGNC:HGNC:4447, NCBI Gene:22945, RefSeq DNA:NG_001245, RefSeq DNA:NT_022135 No chr2 110741545 110742764 109983968 109985187 +PA134943194 55425 HGNC:20298 ENSG00000133114 GPALPP motifs containing 1 GPALPP1 AD029, KIAA1704, LSR7, bA245H20.2 Yes No Ensembl:ENSG00000133114, GeneCard:KIAA1704, HGNC:HGNC:20298, HumanCyc Gene:HS13462, ModBase:Q8IXQ4, NCBI Gene:55425, RefSeq DNA:NT_024524, RefSeq Protein:NP_061029, RefSeq RNA:NM_018559, UniProtKB:Q8IXQ4 No chr13 45563673 45607743 44989530 45033608 +PA134983031 57678 HGNC:24865 ENSG00000119927 glycerol-3-phosphate acyltransferase, mitochondrial GPAM glycerol-3-phosphate acyltransferase 1, mitochondrial GPAT1, KIAA1560, MGC26846 Yes No Comparative Toxicogenomics Database:57678, Ensembl:ENSG00000119927, GeneCard:GPAM, HGNC:HGNC:24865, ModBase:Q9HCL2, NCBI Gene:57678, OMIM:602395, RefSeq DNA:NT_030059, RefSeq Protein:NP_065969, RefSeq RNA:NM_020918, UniProtKB:Q86T70, UniProtKB:Q9HCL2 No chr10 113907971 113975153 112149864 112215395 +PA25265 7918 HGNC:13920 ENSG00000204438, ENSG00000223932, ENSG00000232312 G-patch domain and ankyrin repeats 1 GPANK1 G patch domain and ankyrin repeats 1, G patch domain containing 10, ankyrin repeat domain 59 ANKRD59, BAT4, D6S54E, G5, GPATCH10 Yes No Comparative Toxicogenomics Database:7918, Ensembl:ENSG00000204438, Ensembl:ENSG00000223932, Ensembl:ENSG00000232312, GenAtlas:BAT4, GeneCard:BAT4, HGNC:HGNC:13920, HumanCyc Gene:HS01851, ModBase:O95872, NCBI Gene:7918, OMIM:142610, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001186166, RefSeq Protein:NP_001186167, RefSeq Protein:NP_001186168, RefSeq Protein:NP_001186169, RefSeq Protein:NP_149417, RefSeq RNA:NM_001199237, RefSeq RNA:NM_001199238, RefSeq RNA:NM_001199239, RefSeq RNA:NM_001199240, RefSeq RNA:NM_033177, UCSC Genome Browser:NM_033177, UniProtKB:O95872 No chr6 31629006 31634060 31661229 31666283 +PA165696677 150763 HGNC:27168 ENSG00000186281 glycerol-3-phosphate acyltransferase 2, mitochondrial GPAT2 cancer/testis antigen 123 CT123 Yes No Ensembl:ENSG00000186281, GeneCard:GPAT2, HGNC:HGNC:27168, NCBI Gene:150763, RefSeq DNA:NT_022171, RefSeq Protein:NP_997211, RefSeq RNA:NM_207328, UniProtKB:Q6NUI2 No chr2 96687694 96701722 96021946 96035974 +PA162375888 84803 HGNC:28157 ENSG00000138678 glycerol-3-phosphate acyltransferase 3 GPAT3 """1-acylglycerol-3-phosphate O-acyltransferase 9"", ""lysophosphatidic acid acyltransferase, theta""" AGPAT10, AGPAT9, HMFN0839, LPAAT-theta, MAG1, MGC11324 Yes No Ensembl:ENSG00000138678, GeneCard:AGPAT9, HGNC:HGNC:28157, HumanCyc Gene:HS06534, ModBase:Q53EU6, NCBI Gene:84803, OMIM:610958, RefSeq DNA:NT_016354, RefSeq Protein:NP_116106, RefSeq RNA:NM_032717, UniProtKB:Q53EU6 No chr4 84456886 84527028 83535634 83605875 +PA142672637 137964 HGNC:20880 ENSG00000158669 glycerol-3-phosphate acyltransferase 4 GPAT4 """1-acylglycerol-3-phosphate O-acyltransferase 6"", ""lysophosphatidic acid acyltransferase, zeta""" AGPAT6, DKFZp586M1819, LPAAT-zeta, TSARG7 Yes No Comparative Toxicogenomics Database:137964, Ensembl:ENSG00000158669, GeneCard:AGPAT6, HGNC:HGNC:20880, ModBase:Q86UL3, NCBI Gene:137964, OMIM:608143, RefSeq DNA:NT_167187, RefSeq Protein:NP_848934, RefSeq RNA:NM_178819, UniProtKB:Q2TU73, UniProtKB:Q86UL3 No chr8 41435702 41482520 41578188 41625001 +PA162390063 55094 HGNC:24658 ENSG00000076650 G-patch domain containing 1 GPATCH1 G patch domain containing 1, evolutionarily conserved G patch domain containing ECGP, FLJ10206, FLJ38686, GPATC1 Yes No Ensembl:ENSG00000076650, GeneCard:GPATCH1, HGNC:HGNC:24658, HumanCyc Gene:HS01214, ModBase:Q9BRR8, NCBI Gene:55094, RefSeq DNA:NT_011109, RefSeq Protein:NP_060495, RefSeq RNA:NM_018025, UniProtKB:Q9BRR8 No chr19 33571786 33621318 33080880 33130412 +PA143485427 253635 HGNC:26768 ENSG00000152133 G-patch domain containing 11 GPATCH11 G patch domain containing 11, centromere protein Y CCDC75, CENP-Y, CENPY, FLJ38348 Yes No Ensembl:ENSG00000152133, GeneCard:CCDC75, HGNC:HGNC:26768, NCBI Gene:253635, RefSeq DNA:NT_022184, RefSeq Protein:NP_777591, RefSeq RNA:NM_174931, UniProtKB:Q8N954 No chr2 37311594 37326387 37084451 37099244 +PA162390064 55105 HGNC:25499 ENSG00000092978 G-patch domain containing 2 GPATCH2 """G patch domain containing 2"", ""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30""" CT110, FLJ10252, GPATC2, PPP1R30, Pfa1 Yes No Ensembl:ENSG00000092978, GeneCard:GPATCH2, HGNC:HGNC:25499, HumanCyc Gene:HS01787, ModBase:Q9NW75, NCBI Gene:55105, RefSeq DNA:NT_167186, RefSeq Protein:NP_060510, RefSeq RNA:NM_018040, UniProtKB:Q9NW75 No chr1 217603834 217804426 217426992 217631312 +PA134963976 55668 HGNC:20210 ENSG00000089916 G-patch domain containing 2 like GPATCH2L G patch domain containing 2-like C14orf118, FLJ10033, FLJ20689 Yes No Comparative Toxicogenomics Database:55668, Ensembl:ENSG00000089916, GeneCard:C14orf118, HGNC:HGNC:20210, HumanCyc Gene:HS12326, NCBI Gene:55668, RefSeq DNA:NT_026437, RefSeq Protein:NP_060396, RefSeq Protein:NP_060442, RefSeq RNA:NM_017926, RefSeq RNA:NM_017972, UniProtKB:Q9H3M3, UniProtKB:Q9NWQ4 No chr14 76618255 76671239 76151885 76214473 +PA162390065 63906 HGNC:25720 ENSG00000198746 G-patch domain containing 3 GPATCH3 G patch domain containing 3 FLJ12455, GPATC3 Yes No Ensembl:ENSG00000198746, GeneCard:GPATCH3, HGNC:HGNC:25720, NCBI Gene:63906, RefSeq DNA:NT_004610, RefSeq Protein:NP_071361, RefSeq RNA:NM_022078, UniProtKB:Q96I76 No chr1 27216979 27226962 26890488 26900471 +PA162390084 54865 HGNC:25982 ENSG00000160818 G-patch domain containing 4 (gene/pseudogene) GPATCH4 G patch domain containing 4, G-patch domain containing 4 DKFZP434F1735, FLJ20249, GPATC4 Yes No Ensembl:ENSG00000160818, GeneCard:GPATCH4, HGNC:HGNC:25982, NCBI Gene:54865, RefSeq DNA:NT_004487, RefSeq Protein:NP_056405, RefSeq Protein:NP_872620, RefSeq RNA:NM_015590, RefSeq RNA:NM_182679, UniProtKB:Q5T3I0 No chr1 156564100 156571288 156594308 156601496 +PA162390105 23131 HGNC:29066 ENSG00000186566 G-patch domain containing 8 GPATCH8 G patch domain containing 8 GPATC8, KIAA0553 Yes No Comparative Toxicogenomics Database:23131, Ensembl:ENSG00000186566, GeneCard:GPATCH8, HGNC:HGNC:29066, NCBI Gene:23131, RefSeq DNA:NT_010783, RefSeq Protein:NP_001002909, RefSeq RNA:NM_001002909, RefSeq RNA:NR_036474, UniProtKB:Q9UKJ3 No chr17 42472645 42580957 44395277 44503602 +PA166351826 HGNC:4448 glycerol phosphatase, beta- GPB glycerol-2-phosphatase Yes No HGNC:HGNC:4448 No 0 0 0 0 +PA134903170 151306 HGNC:19680 ENSG00000179921 G protein-coupled bile acid receptor 1 GPBAR1 BG37, GPCR, GPCR19, GPR131, M-BAR, MGC40597, TGR5 Yes No Ensembl:ENSG00000179921, GeneCard:GPBAR1, HGNC:HGNC:19680, HumanCyc Gene:HS11431, IUPHAR Receptor:37, ModBase:Q8TDU6, NCBI Gene:151306, OMIM:610147, RefSeq DNA:NT_005403, RefSeq Protein:NP_001070659, RefSeq Protein:NP_001070662, RefSeq Protein:NP_733800, RefSeq RNA:NM_001077191, RefSeq RNA:NM_001077194, RefSeq RNA:NM_170699, UniProtKB:Q8TDU6 No chr2 219125738 219128582 218259496 218263861 +PA142671714 65056 HGNC:29520 ENSG00000062194 GC-rich promoter binding protein 1 GPBP1 DKFZp761C169, vasculin Yes No Ensembl:ENSG00000062194, GeneCard:GPBP1, HGNC:HGNC:29520, ModBase:Q86WP2, NCBI Gene:65056, OMIM:608412, RefSeq DNA:NT_006713, RefSeq Protein:NP_001120707, RefSeq Protein:NP_001120708, RefSeq Protein:NP_001190175, RefSeq Protein:NP_075064, RefSeq RNA:NM_001127235, RefSeq RNA:NM_001127236, RefSeq RNA:NM_001203246, RefSeq RNA:NM_022913, UniProtKB:Q86WP2 No chr5 56469676 56560506 57173826 57264679 +PA142671715 60313 HGNC:28843 ENSG00000159592 GC-rich promoter binding protein 1 like 1 GPBP1L1 GC-rich promoter binding protein 1-like 1 SP192 Yes No Ensembl:ENSG00000159592, GeneCard:GPBP1L1, HGNC:HGNC:28843, HumanCyc Gene:HS14765, ModBase:Q9HC44, NCBI Gene:60313, RefSeq DNA:NT_032977, RefSeq Protein:NP_067652, RefSeq RNA:NM_021639, UniProtKB:Q9HC44 No chr1 46092976 46153782 45627304 45686691 +PA28830 2817 HGNC:4449 ENSG00000063660 glypican 1 GPC1 glypican proteoglycan 1 glypican Yes No Comparative Toxicogenomics Database:2817, Ensembl:ENSG00000063660, GenAtlas:GPC1, GeneCard:GPC1, HGNC:HGNC:4449, HumanCyc Gene:HS00786, ModBase:P35052, NCBI Gene:2817, OMIM:600395, RefSeq DNA:NT_005416, RefSeq Protein:NP_002072, RefSeq RNA:NM_002081, UCSC Genome Browser:NM_002081, UniProtKB:P35052 No chr2 241375115 241407495 240435698 240468078 +PA28831 221914 HGNC:4450 ENSG00000213420 glypican 2 GPC2 glypican proteoglycan 2, cerebroglycan proteoglycan DKFZp547M109, FLJ38962, cerebroglycan Yes No Comparative Toxicogenomics Database:221914, Ensembl:ENSG00000213420, GenAtlas:GPC2, GeneCard:GPC2, HGNC:HGNC:4450, ModBase:Q8N158, NCBI Gene:221914, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_689955, RefSeq RNA:NM_152742, UCSC Genome Browser:NM_152742, UniProtKB:Q8N158 No chr7 99767229 99774990 100169606 100177426 +PA28832 2719 HGNC:4451 ENSG00000147257 glypican 3 GPC3 glypican proteoglycan 3 DGSX, OCI-5, SDYS, SGB, SGBS, SGBS1 Yes No Comparative Toxicogenomics Database:2719, Ensembl:ENSG00000147257, GenAtlas:GPC3, GeneCard:GPC3, HGNC:HGNC:4451, HumanCyc Gene:HS07413, ModBase:P51654, NCBI Gene:2719, OMIM:194070, OMIM:300037, OMIM:312870, RefSeq DNA:NG_009286, RefSeq DNA:NT_011786, RefSeq Protein:NP_001158089, RefSeq Protein:NP_001158090, RefSeq Protein:NP_001158091, RefSeq Protein:NP_004475, RefSeq RNA:NM_001164617, RefSeq RNA:NM_001164618, RefSeq RNA:NM_001164619, RefSeq RNA:NM_004484, UCSC Genome Browser:NM_004484, UniProtKB:B4DTD8, UniProtKB:P51654, UniProtKB:Q2L880, UniProtKB:Q53H15 No chrX 132669773 133119673 133535745 133985646 +PA28833 2239 HGNC:4452 ENSG00000076716 glypican 4 GPC4 glypican proteoglycan 4 K-glypican Yes No Comparative Toxicogenomics Database:2239, Ensembl:ENSG00000076716, GenAtlas:GPC4, GeneCard:GPC4, HGNC:HGNC:4452, HumanCyc Gene:HS01218, ModBase:O75487, NCBI Gene:2239, OMIM:300168, RefSeq DNA:NG_012498, RefSeq DNA:NT_011786, RefSeq Protein:NP_001439, RefSeq RNA:NM_001448, UCSC Genome Browser:NM_001448, UniProtKB:O75487 No chrX 132433815 132549205 133301036 133415177 +PA28834 2262 HGNC:4453 ENSG00000179399 glypican 5 GPC5 glypican proteoglycan 5 Yes No Ensembl:ENSG00000179399, GenAtlas:GPC5, GeneCard:GPC5, HGNC:HGNC:4453, ModBase:P78333, NCBI Gene:2262, OMIM:602446, RefSeq DNA:NG_009370, RefSeq DNA:NT_009952, RefSeq Protein:NP_004457, RefSeq RNA:NM_004466, UCSC Genome Browser:NM_004466, UniProtKB:P78333 No chr13 92050935 93519490 91398619 92867237 +PA28835 10082 HGNC:4454 ENSG00000183098 glypican 6 GPC6 glypican proteoglycan 6 Yes No Comparative Toxicogenomics Database:10082, Ensembl:ENSG00000183098, GenAtlas:GPC6, GeneCard:GPC6, HGNC:HGNC:4454, ModBase:Q9Y625, NCBI Gene:10082, OMIM:258315, OMIM:604404, RefSeq DNA:NG_011880, RefSeq DNA:NT_009952, RefSeq Protein:NP_005699, RefSeq RNA:NM_005708, UCSC Genome Browser:NM_005708, UniProtKB:Q9Y625 No chr13 93879078 95060274 93226825 94408020 +PA165392351 56261 HGNC:26957 ENSG00000125772 glycerophosphocholine phosphodiesterase 1 GPCPD1 glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) GDE5, GDPD6, KIAA1434 Yes No Ensembl:ENSG00000125772, GeneCard:GPCPD1, HGNC:HGNC:26957, HumanCyc Gene:HS04929, NCBI Gene:56261, RefSeq DNA:NT_011387, RefSeq Protein:NP_062539, RefSeq RNA:NM_019593, UniProtKB:Q9NPB8 No chr20 5525080 5591672 5544434 5611026 +PA28836 2819 HGNC:4455 ENSG00000167588 glycerol-3-phosphate dehydrogenase 1 GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) Yes No Comparative Toxicogenomics Database:2819, Ensembl:ENSG00000167588, GenAtlas:GPD1, GeneCard:GPD1, HGNC:HGNC:4455, HumanCyc Gene:HS09586, ModBase:P21695, NCBI Gene:2819, OMIM:138420, RefSeq DNA:NT_029419, RefSeq Protein:NP_005267, RefSeq RNA:NM_005276, UCSC Genome Browser:NM_005276, UniProtKB:P21695 No chr12 50497602 50505103 50103819 50111320 +PA134986345 23171 HGNC:28956 ENSG00000152642 glycerol-3-phosphate dehydrogenase 1 like GPD1L glycerol-3-phosphate dehydrogenase 1-like KIAA0089 Yes No Comparative Toxicogenomics Database:23171, Ensembl:ENSG00000152642, GeneCard:GPD1L, HGNC:HGNC:28956, HumanCyc Gene:HS07841, ModBase:Q8N335, NCBI Gene:23171, OMIM:611777, OMIM:611778, RefSeq DNA:NG_023375, RefSeq DNA:NT_022517, RefSeq Protein:NP_055956, RefSeq RNA:NM_015141, UniProtKB:Q8N335 No chr3 32148003 32210207 32106511 32168715 +PA28837 2820 HGNC:4456 ENSG00000115159 glycerol-3-phosphate dehydrogenase 2 GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) Yes No Comparative Toxicogenomics Database:2820, Ensembl:ENSG00000115159, GenAtlas:GPD2, GeneCard:GPD2, HGNC:HGNC:4456, HumanCyc Gene:HS03841, ModBase:P43304, NCBI Gene:2820, OMIM:125853, OMIM:138430, RefSeq DNA:NG_016606, RefSeq DNA:NT_005403, RefSeq Protein:NP_000399, RefSeq Protein:NP_001076581, RefSeq RNA:NM_000408, RefSeq RNA:NM_001083112, UCSC Genome Browser:NM_000408, UniProtKB:P43304 No chr2 157291965 157442915 156435290 156586403 +PA28873 2852 HGNC:4485 ENSG00000164850 G protein-coupled estrogen receptor 1 GPER1 CEPR, CMKRL2, DRY12, FEG-1, GPCR-Br, GPER, GPR30, LERGU, LERGU2, LyGPR Yes No Ensembl:ENSG00000164850, GenAtlas:GPR30, GeneCard:GPER, GeneCard:GPR30, HGNC:HGNC:4485, HumanCyc Gene:HS09148, IUPHAR Receptor:221, NCBI Gene:2852, OMIM:601805, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001035055, RefSeq Protein:NP_001091671, RefSeq Protein:NP_001496, RefSeq RNA:NM_001039966, RefSeq RNA:NM_001098201, RefSeq RNA:NM_001505, UCSC Genome Browser:NM_001505, UniProtKB:Q99527 No chr7 1126443 1133451 1086807 1093815 +PA28839 170589 HGNC:18054 ENSG00000149735 glycoprotein hormone subunit alpha 2 GPHA2 cysteine knot protein, glycoprotein alpha 2, glycoprotein hormone alpha 2, thyrostimulin subunit alpha A2, GPA2, MGC126572, ZSIG51 Yes No Comparative Toxicogenomics Database:170589, Ensembl:ENSG00000149735, GenAtlas:GPHA2, GeneCard:GPHA2, HGNC:HGNC:18054, HumanCyc Gene:HS07637, ModBase:Q96T91, NCBI Gene:170589, OMIM:609651, RefSeq DNA:NT_167190, RefSeq Protein:NP_570125, RefSeq RNA:NM_130769, UCSC Genome Browser:NM_130769, UniProtKB:Q96T91 No chr11 64701943 64703360 64934471 64938131 +PA134872371 122876 HGNC:18055 ENSG00000179600 glycoprotein hormone subunit beta 5 GPHB5 glycoprotein hormone beta 5, thyrostimulin subunit beta GPB5, ZLUT1 Yes No Ensembl:ENSG00000179600, GeneCard:GPHB5, HGNC:HGNC:18055, HumanCyc Gene:HS11397, ModBase:Q86YW7, NCBI Gene:122876, OMIM:609652, RefSeq DNA:NT_026437, RefSeq Protein:NP_660154, RefSeq RNA:NM_145171, UniProtKB:Q86YW7 No chr14 63779549 63785593 63312835 63318879 +PA28840 10243 HGNC:15465 ENSG00000171723 gephyrin GPHN GEPH, GPH, KIAA1385 Yes No Comparative Toxicogenomics Database:10243, Ensembl:ENSG00000171723, GenAtlas:GPHN, GeneCard:GPHN, HGNC:HGNC:15465, HumanCyc Gene:HS10371, ModBase:Q9NQX3, NCBI Gene:10243, OMIM:149400, OMIM:252150, OMIM:603930, RefSeq DNA:NG_008875, RefSeq DNA:NT_026437, RefSeq Protein:NP_001019389, RefSeq Protein:NP_065857, RefSeq RNA:NM_001024218, RefSeq RNA:NM_020806, UCSC Genome Browser:NM_020806, UniProtKB:Q9NQX3 No chr14 66974125 67648525 66507407 67735831 +PA28841 2821 HGNC:4458 ENSG00000105220 glucose-6-phosphate isomerase GPI AMF, NLK Yes No Comparative Toxicogenomics Database:2821, Ensembl:ENSG00000105220, GenAtlas:GPI, GeneCard:GPI, HGNC:HGNC:4458, HumanCyc Gene:HS02693, ModBase:P06744, NCBI Gene:2821, OMIM:172400, RefSeq DNA:NG_012838, RefSeq DNA:NT_011109, RefSeq Protein:NP_000166, RefSeq Protein:NP_001171651, RefSeq RNA:NM_000175, RefSeq RNA:NM_001184722, UCSC Genome Browser:NM_000175, UniProtKB:B4DG39, UniProtKB:P06744 No chr19 34855645 34893318 34359592 34402413 +PA162390135 338328 HGNC:24945 ENSG00000277494 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 GPIHBP1 endothelial cell LPL transporter GPI-HBP1, LOC338328 Yes No Ensembl:ENSG00000277494, GeneCard:GPIHBP1, HGNC:HGNC:24945, ModBase:Q8IV16, NCBI Gene:338328, OMIM:612757, RefSeq DNA:NT_008046, RefSeq Protein:NP_835466, RefSeq RNA:NM_178172, UniProtKB:Q8IV16 No chr8 144295068 144299044 143213193 143217170 +PA134956055 27238 HGNC:30677 ENSG00000068394 G-patch domain and KOW motifs GPKOW G patch domain and KOW motifs, G patch domain containing 5 GPATC5, GPATCH5, Mos2, Spp2, T54 Yes No Ensembl:ENSG00000068394, GeneCard:GPKOW, HGNC:HGNC:30677, HumanCyc Gene:HS00937, ModBase:Q92917, NCBI Gene:27238, RefSeq DNA:NG_021310, RefSeq DNA:NT_079573, RefSeq Protein:NP_056513, RefSeq RNA:NM_015698, UniProtKB:Q92917 No chrX 48969022 48980079 49113385 49124547 +PA28842 2822 HGNC:4459 ENSG00000112293 glycosylphosphatidylinositol specific phospholipase D1 GPLD1 Yes No Comparative Toxicogenomics Database:2822, Ensembl:ENSG00000112293, GenAtlas:GPLD1, GeneCard:GPLD1, HGNC:HGNC:4459, HumanCyc Gene:HS03549, ModBase:Q96ID6, NCBI Gene:2822, OMIM:602515, RefSeq DNA:NT_007592, RefSeq Protein:NP_001494, RefSeq Protein:NP_803436, RefSeq RNA:NM_001503, RefSeq RNA:NM_177483, UCSC Genome Browser:NM_001503, UniProtKB:P80108 No chr6 24426060 24495433 24425832 24495163 +PA28843 2823 HGNC:4460 ENSG00000150625 glycoprotein M6A GPM6A GPM6 Yes No Comparative Toxicogenomics Database:2823, Ensembl:ENSG00000150625, GenAtlas:GPM6A, GeneCard:GPM6A, HGNC:HGNC:4460, HumanCyc Gene:HS07678, ModBase:P51674, NCBI Gene:2823, OMIM:601275, RefSeq DNA:NT_016354, RefSeq Protein:NP_005268, RefSeq Protein:NP_963885, RefSeq Protein:NP_963886, RefSeq RNA:NM_005277, RefSeq RNA:NM_201591, RefSeq RNA:NM_201592, UCSC Genome Browser:NM_005277, UniProtKB:P51674, UniProtKB:Q86YB0 No chr4 176554088 176923842 175632937 176002691 +PA28844 2824 HGNC:4461 ENSG00000046653 glycoprotein M6B GPM6B M6B, MGC17150, MGC54284 Yes No Comparative Toxicogenomics Database:2824, Ensembl:ENSG00000046653, GenAtlas:GPM6B, GeneCard:GPM6B, HGNC:HGNC:4461, HumanCyc Gene:HS00582, ModBase:Q13491, NCBI Gene:2824, OMIM:300051, RefSeq DNA:NG_011988, RefSeq DNA:NT_167197, RefSeq Protein:NP_001001994, RefSeq Protein:NP_001001995, RefSeq Protein:NP_001001996, RefSeq Protein:NP_005269, RefSeq RNA:NM_001001994, RefSeq RNA:NM_001001995, RefSeq RNA:NM_001001996, RefSeq RNA:NM_005278, UCSC Genome Browser:NM_005278, UniProtKB:Q13491, UniProtKB:Q86X43, UniProtKB:Q8N956 No chrX 13789062 13956861 13770922 13938824 +PA165791431 HGNC:38782 glycoprotein M6B pseudogene 1 GPM6BP1 Yes No HGNC:HGNC:38782 No +PA165791432 HGNC:38781 glycoprotein M6B pseudogene 2 GPM6BP2 Yes No HGNC:HGNC:38781 No +PA165378338 100873787 HGNC:38783 ENSG00000234121 glycoprotein M6B pseudogene 3 GPM6BP3 Yes No Ensembl:ENSG00000234121, HGNC:HGNC:38783, NCBI Gene:100873787 No chr22 17318403 17318555 16837314 16837865 +PA162390148 11321 HGNC:17030 ENSG00000198522 GPN-loop GTPase 1 GPN1 RNA polymerase II associated protein 4 ATPBD1A, MBDIN, NTPBP, RPAP4, XAB1 Yes No Ensembl:ENSG00000198522, GeneCard:GPN1, HGNC:HGNC:17030, HumanCyc Gene:HS03857, ModBase:Q9HCN4, NCBI Gene:11321, OMIM:611479, RefSeq DNA:NT_022184, RefSeq Protein:NP_001138519, RefSeq Protein:NP_001138520, RefSeq Protein:NP_001138521, RefSeq Protein:NP_009197, RefSeq RNA:NM_001145047, RefSeq RNA:NM_001145048, RefSeq RNA:NM_001145049, RefSeq RNA:NM_007266, RefSeq RNA:NR_026735, UniProtKB:B4DQJ5, UniProtKB:B4DQM4, UniProtKB:B4DXU4, UniProtKB:B5MBZ5, UniProtKB:Q53RZ9, UniProtKB:Q9HCN4 No chr2 27851515 27873713 27628648 27650846 +PA162390149 54707 HGNC:25513 ENSG00000142751 GPN-loop GTPase 2 GPN2 ATPBD1B, FLJ10349 Yes No Ensembl:ENSG00000142751, GeneCard:GPN2, HGNC:HGNC:25513, HumanCyc Gene:HS06959, ModBase:Q9H9Y4, NCBI Gene:54707, RefSeq DNA:NT_004610, RefSeq Protein:NP_060536, RefSeq RNA:NM_018066, UniProtKB:Q9H9Y4 No chr1 27205872 27216869 26879382 26890378 +PA162390164 51184 HGNC:30186 ENSG00000111231 GPN-loop GTPase 3 GPN3 ATPBD1C, MGC14560 Yes No Ensembl:ENSG00000111231, GeneCard:GPN3, HGNC:HGNC:30186, HumanCyc Gene:HS03383, ModBase:Q9UHW5, NCBI Gene:51184, RefSeq DNA:NT_009775, RefSeq Protein:NP_001157844, RefSeq Protein:NP_001157845, RefSeq Protein:NP_057385, RefSeq RNA:NM_001164372, RefSeq RNA:NM_001164373, RefSeq RNA:NM_016301, UniProtKB:Q9UHW5 No chr12 110890291 110906667 110452486 110468835 +PA28845 10457 HGNC:4462 ENSG00000136235 glycoprotein nmb GPNMB glycoprotein (transmembrane) nmb, glycoprotein NMB, glycoprotein nmb-like protein, glycoprotein nonmetastatic melanoma protein B, hematopoietic growth factor inducible neurokinin-1, osteoactivin, transmembrane glycoprotein HGFIN, NMB Yes No Comparative Toxicogenomics Database:10457, Ensembl:ENSG00000136235, GenAtlas:GPNMB, GeneCard:GPNMB, HGNC:HGNC:4462, HumanCyc Gene:HS06132, ModBase:Q14956, NCBI Gene:10457, OMIM:604368, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001005340, RefSeq Protein:NP_002501, RefSeq RNA:NM_001005340, RefSeq RNA:NM_002510, UCSC Genome Browser:NM_002510, UniProtKB:Q14956, UniProtKB:Q96F58 No chr7 23286305 23314729 23246206 23275110 +PA28849 83550 HGNC:14963 ENSG00000165370 G protein-coupled receptor 101 GPR101 Yes No Ensembl:ENSG00000165370, GenAtlas:GPR101, GeneCard:GPR101, HGNC:HGNC:14963, HumanCyc Gene:HS09220, IUPHAR Receptor:125, ModBase:Q96P66, NCBI Gene:83550, OMIM:300393, RefSeq DNA:NG_016367, RefSeq DNA:NT_011786, RefSeq Protein:NP_473362, RefSeq RNA:NM_054021, UCSC Genome Browser:NM_054021, UniProtKB:Q96P66 No chrX 136112307 136113833 137030148 137031674 +PA28854 57720 HGNC:17830 ENSG00000148358 G protein-coupled receptor 107 GPR107 FLJ20998, KIAA1624, LUSTR1, RP11-88G17 Yes No Ensembl:ENSG00000148358, GenAtlas:GPR107, GeneCard:GPR107, HGNC:HGNC:17830, HumanCyc Gene:HS07521, NCBI Gene:57720, RefSeq DNA:NT_008470, RefSeq Protein:NP_001130029, RefSeq Protein:NP_001130030, RefSeq Protein:NP_066011, RefSeq RNA:NM_001136557, RefSeq RNA:NM_001136558, RefSeq RNA:NM_020960, UCSC Genome Browser:NM_020960, UniProtKB:Q5VW38 No chr9 132815985 132902448 130053706 130140169 +PA28855 56927 HGNC:17829 ENSG00000125734 G protein-coupled receptor 108 GPR108 LUSTR2 Yes No Ensembl:ENSG00000125734, GenAtlas:GPR108, GeneCard:GPR108, HGNC:HGNC:17829, HumanCyc Gene:HS13176, NCBI Gene:56927, RefSeq DNA:NT_011255, RefSeq Protein:NP_001073921, RefSeq Protein:NP_064556, RefSeq RNA:NM_001080452, RefSeq RNA:NM_020171, UniProtKB:Q9NPR9 No chr19 6729925 6737633 6729914 6737622 +PA134928131 139760 HGNC:19060 ENSG00000147262 G protein-coupled receptor 119 GPR119 GPCR2, hGPCR2 Yes No Ensembl:ENSG00000147262, GeneCard:GPR119, HGNC:HGNC:19060, IUPHAR Receptor:126, ModBase:Q8TDV5, NCBI Gene:139760, OMIM:300513, RefSeq DNA:NG_016404, RefSeq DNA:NT_011786, RefSeq Protein:NP_848566, RefSeq RNA:NM_178471, UniProtKB:Q8TDV5 No chrX 129518319 129519511 130384345 130385537 +PA28856 2835 HGNC:4466 ENSG00000132975 G protein-coupled receptor 12 GPR12 protein phosphatase 1, regulatory subunit 84 GPCR21, PPP1R84 Yes No Ensembl:ENSG00000132975, GenAtlas:GPR12, GeneCard:GPR12, HGNC:HGNC:4466, HumanCyc Gene:HS05717, IUPHAR Receptor:86, ModBase:P47775, NCBI Gene:2835, OMIM:600752, RefSeq DNA:NT_024524, RefSeq Protein:NP_005279, RefSeq RNA:NM_005288, UCSC Genome Browser:NM_005288, UniProtKB:A8K2F5, UniProtKB:P47775 No chr13 27329337 27334922 26755200 26760786 +PA166351828 HGNC:19346 G protein-coupled receptor 130 GPR130 Yes No HGNC:HGNC:19346 No 0 0 0 0 +PA134940832 29933 HGNC:17482 ENSG00000183484 G protein-coupled receptor 132 GPR132 G2 accumulation G2A Yes No Ensembl:ENSG00000183484, GeneCard:GPR132, HGNC:HGNC:17482, IUPHAR Receptor:128, ModBase:Q9UNW8, NCBI Gene:29933, OMIM:606167, RefSeq DNA:NT_026437, RefSeq Protein:NP_037477, RefSeq RNA:NM_013345, UniProtKB:A8K7X7, UniProtKB:Q9UNW8 No chr14 105515726 105531887 105049389 105065550 +PA134863427 64582 HGNC:19991 ENSG00000181619 G protein-coupled receptor 135 GPR135 HUMNPIIY20, PAFR Yes No Ensembl:ENSG00000181619, GeneCard:GPR135, HGNC:HGNC:19991, HumanCyc Gene:HS11636, IUPHAR Receptor:129, ModBase:Q8IZ08, NCBI Gene:64582, OMIM:607970, RefSeq DNA:NT_026437, RefSeq Protein:NP_072093, RefSeq RNA:NM_022571, UniProtKB:Q8IZ08 No chr14 59930240 59932059 59452773 59465356 +PA143485482 56834 HGNC:24300 ENSG00000173264 G protein-coupled receptor 137 GPR137 C11orf4, GPR137A, TM7SF1L1 Yes No Ensembl:ENSG00000173264, GeneCard:GPR137, HGNC:HGNC:24300, HumanCyc Gene:HS10640, NCBI Gene:56834, RefSeq DNA:NT_167190, RefSeq Protein:NP_001164197, RefSeq Protein:NP_001164351, RefSeq Protein:NP_001164352, RefSeq Protein:NP_001170829, RefSeq Protein:NP_064540, RefSeq RNA:NM_001170726, RefSeq RNA:NM_001170880, RefSeq RNA:NM_001170881, RefSeq RNA:NM_001177358, RefSeq RNA:NM_020155, UniProtKB:B4DTG7, UniProtKB:B7Z7M1, UniProtKB:Q96N19, UniProtKB:Q9NQC5 No chr11 64051781 64056972 64270337 64289500 +PA36563 7107 HGNC:11862 ENSG00000077585 G protein-coupled receptor 137B GPR137B TM7SF1 Yes No Comparative Toxicogenomics Database:7107, Ensembl:ENSG00000077585, GenAtlas:GPR137B, GeneCard:GPR137B, HGNC:HGNC:11862, HumanCyc Gene:HS01252, ModBase:O60478, NCBI Gene:7107, OMIM:604658, RefSeq DNA:NT_167186, RefSeq Protein:NP_003263, RefSeq RNA:NM_003272, UCSC Genome Browser:NM_003272, UniProtKB:O60478 No chr1 236305832 236415314 236142502 236211059 +PA143485483 283554 HGNC:25445 ENSG00000180998 G protein-coupled receptor 137C GPR137C DKFZp762F0713, TM7SF1L2 Yes No Ensembl:ENSG00000180998, GeneCard:GPR137C, HGNC:HGNC:25445, NCBI Gene:283554, RefSeq DNA:NT_026437, RefSeq Protein:NP_001093122, RefSeq RNA:NM_001099652, UniProtKB:B3KW22, UniProtKB:Q6AWC7, UniProtKB:Q8N3F9 No chr14 53019866 53104431 52553148 52637713 +PA134970866 124274 HGNC:19995 ENSG00000180269 G protein-coupled receptor 139 GPR139 PGR3 Yes No Ensembl:ENSG00000180269, GeneCard:GPR139, HGNC:HGNC:19995, IUPHAR Receptor:130, ModBase:Q6DWJ6, NCBI Gene:124274, RefSeq DNA:NT_010393, RefSeq Protein:NP_001002911, RefSeq RNA:NM_001002911, UniProtKB:A8K5R9, UniProtKB:Q6DWJ6 No chr16 20042981 20085100 20031485 20073778 +PA134923895 353345 HGNC:19997 ENSG00000187037 G protein-coupled receptor 141 GPR141 PGR13 Yes No Ensembl:ENSG00000187037, GeneCard:GPR141, HGNC:HGNC:19997, IUPHAR Receptor:131, ModBase:Q7Z602, NCBI Gene:353345, OMIM:609045, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_861456, RefSeq RNA:NM_181791, UniProtKB:Q7Z602 No chr7 37570212 37781888 37683550 37743835 +PA134891802 350383 HGNC:20088 ENSG00000257008 G protein-coupled receptor 142 GPR142 PGR2 Yes No Ensembl:ENSG00000257008, GeneCard:GPR142, HGNC:HGNC:20088, IUPHAR Receptor:132, ModBase:Q7Z601, NCBI Gene:350383, OMIM:609046, RefSeq DNA:NT_010783, RefSeq Protein:NP_861455, RefSeq RNA:NM_181790, UniProtKB:Q7Z601 No chr17 72363532 72369104 74367197 74373008 +PA31872 4935 HGNC:20145 ENSG00000101850 G protein-coupled receptor 143 GPR143 ocular albinism 1, ocular albinism 1 (Nettleship-Falls) OA1 Yes No Comparative Toxicogenomics Database:4935, Ensembl:ENSG00000101850, GenAtlas:GPR143, GeneCard:GPR143, HGNC:HGNC:20145, HumanCyc Gene:HS02308, IUPHAR Receptor:203, NCBI Gene:4935, OMIM:300500, OMIM:300808, OMIM:300814, RefSeq DNA:NG_009074, RefSeq DNA:NT_167197, RefSeq Protein:NP_000264, RefSeq RNA:NM_000273, UCSC Genome Browser:NM_000273, UniProtKB:P51810 No chrX 9693453 9734005 9725413 9765965 +PA38561 352896 HGNC:18499 ENSG00000232583 G protein-coupled receptor 143 pseudogene GPR143P Yes No Ensembl:ENSG00000232583, GenAtlas:GPR143P, GeneCard:GPR143P, HGNC:HGNC:18499, NCBI Gene:352896, RefSeq DNA:NG_002814, RefSeq DNA:NT_011896 No chrY 6968439 6974546 7100398 7106505 +PA134958088 115330 HGNC:21718 ENSG00000164849 G protein-coupled receptor 146 GPR146 PGR8 Yes No Ensembl:ENSG00000164849, GeneCard:GPR146, HGNC:HGNC:21718, HumanCyc Gene:HS09147, IUPHAR Receptor:133, ModBase:Q96CH1, NCBI Gene:115330, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_612454, RefSeq RNA:NM_138445, UniProtKB:A4D2Q3, UniProtKB:Q96CH1 No chr7 1084218 1098905 1044573 1059269 +PA134942667 344561 HGNC:23623 ENSG00000173302 G protein-coupled receptor 148 GPR148 PGR6 Yes No Ensembl:ENSG00000173302, GeneCard:GPR148, HGNC:HGNC:23623, IUPHAR Receptor:134, ModBase:Q8TDV2, NCBI Gene:344561, RefSeq DNA:NT_022135, RefSeq Protein:NP_997247, RefSeq RNA:NM_207364, UniProtKB:Q8TDV2 No chr2 131486643 131487909 130729070 130730336 +PA134981369 344758 HGNC:23627 ENSG00000174948 G protein-coupled receptor 149 GPR149 IEDA, PGR10, R35 Yes No Comparative Toxicogenomics Database:344758, Ensembl:ENSG00000174948, GeneCard:GPR149, HGNC:HGNC:23627, IUPHAR Receptor:135, ModBase:Q86SP6, NCBI Gene:344758, RefSeq DNA:NT_005612, RefSeq Protein:NP_001033794, RefSeq RNA:NM_001038705, UniProtKB:Q2MKA6, UniProtKB:Q86SP6 No chr3 154055461 154147504 154337672 154429715 +PA28858 2838 HGNC:4469 ENSG00000154165 G protein-coupled receptor 15 GPR15 Yes No Ensembl:ENSG00000154165, GenAtlas:GPR15, GeneCard:GPR15, HGNC:HGNC:4469, HumanCyc Gene:HS07956, IUPHAR Receptor:87, ModBase:P49685, NCBI Gene:2838, OMIM:601166, RefSeq DNA:NT_005612, RefSeq Protein:NP_005281, RefSeq RNA:NM_005290, UCSC Genome Browser:NM_005290, UniProtKB:B6V9G9, UniProtKB:P49685 No chr3 98250743 98251994 98531899 98534679 +PA134984082 285601 HGNC:23628 ENSG00000178015 G protein-coupled receptor 150 GPR150 PGR11 Yes No Comparative Toxicogenomics Database:285601, Ensembl:ENSG00000178015, GeneCard:GPR150, HGNC:HGNC:23628, IUPHAR Receptor:136, ModBase:Q8NGU9, NCBI Gene:285601, RefSeq DNA:NT_034772, RefSeq Protein:NP_954713, RefSeq RNA:NM_199243, UniProtKB:Q8NGU9 No chr5 94955980 94957284 95620276 95621580 +PA134975199 134391 HGNC:23624 ENSG00000173250 G protein-coupled receptor 151 GPR151 galanin receptor 4 GALR4, PGR7 Yes No Comparative Toxicogenomics Database:134391, Ensembl:ENSG00000173250, GeneCard:GPR151, HGNC:HGNC:23624, IUPHAR Receptor:137, ModBase:Q8TDV0, NCBI Gene:134391, RefSeq DNA:NT_029289, RefSeq Protein:NP_919227, RefSeq RNA:NM_194251, UniProtKB:Q8TDV0 No chr5 145894417 145895676 146514854 146516113 +PA134897297 390212 HGNC:23622 ENSG00000175514 G protein-coupled receptor 152 GPR152 PGR5 Yes No Comparative Toxicogenomics Database:390212, Ensembl:ENSG00000175514, GeneCard:GPR152, HGNC:HGNC:23622, IUPHAR Receptor:138, ModBase:Q8TDT2, NCBI Gene:390212, RefSeq DNA:NT_167190, RefSeq Protein:NP_996880, RefSeq RNA:NM_206997, UniProtKB:Q8TDT2 No chr11 67218772 67220200 67451301 67452729 +PA134929175 387509 HGNC:23618 ENSG00000158292 G protein-coupled receptor 153 GPR153 PGR1 Yes No Ensembl:ENSG00000158292, GeneCard:GPR153, HGNC:HGNC:23618, IUPHAR Receptor:139, ModBase:Q6NV75, NCBI Gene:387509, RefSeq DNA:NT_021937, RefSeq Protein:NP_997253, RefSeq RNA:NM_207370, UniProtKB:Q6NV75 No chr1 6307406 6321035 6247346 6260975 +PA134943679 151556 HGNC:22951 ENSG00000163328 G protein-coupled receptor 155 GPR155 DEP.7, DEPDC3, FLJ31819, PGR22 Yes No Comparative Toxicogenomics Database:151556, Ensembl:ENSG00000163328, GeneCard:GPR155, HGNC:HGNC:22951, HumanCyc Gene:HS08828, ModBase:Q8N8K3, NCBI Gene:151556, RefSeq DNA:NT_005403, RefSeq Protein:NP_001028217, RefSeq Protein:NP_689742, RefSeq RNA:NM_001033045, RefSeq RNA:NM_152529, UniProtKB:Q7Z3F1 No chr2 175296299 175351816 174431571 174494001 +PA134918005 165829 HGNC:20844 ENSG00000175697 G protein-coupled receptor 156 GPR156 GABABL, PGR28 Yes No Ensembl:ENSG00000175697, GeneCard:GPR156, HGNC:HGNC:20844, HumanCyc Gene:HS10968, IUPHAR Receptor:209, ModBase:Q8NFN8, NCBI Gene:165829, OMIM:610464, RefSeq DNA:NT_005612, RefSeq Protein:NP_001161743, RefSeq Protein:NP_694547, RefSeq RNA:NM_001168271, RefSeq RNA:NM_153002, UniProtKB:B7ZL66, UniProtKB:Q8NFN8 No chr3 119884328 120003921 120165481 120285122 +PA134876230 80045 HGNC:23687 ENSG00000180758 G protein-coupled receptor 157 GPR157 FLJ12132 Yes No Ensembl:ENSG00000180758, GeneCard:GPR157, HGNC:HGNC:23687, HumanCyc Gene:HS11523, IUPHAR Receptor:205, ModBase:Q5UAW9, NCBI Gene:80045, RefSeq DNA:NT_021937, RefSeq Protein:NP_079256, RefSeq RNA:NM_024980, UniProtKB:Q5UAW9 No chr1 9163472 9189229 9103390 9129170 +PA134939018 57512 HGNC:23689 ENSG00000151025 G protein-coupled receptor 158 GPR158 KIAA1136 Yes No Comparative Toxicogenomics Database:57512, Ensembl:ENSG00000151025, GeneCard:GPR158, HGNC:HGNC:23689, IUPHAR Receptor:210, ModBase:Q5T848, NCBI Gene:57512, RefSeq DNA:NT_008705, RefSeq Protein:NP_065803, RefSeq RNA:NM_020752, UniProtKB:Q5T848 No chr10 25464290 25891158 25174722 25602229 +PA134990747 387695 HGNC:31428 ENSG00000188373 G protein-coupled receptor 15 ligand GPR15LG G protein-coupled receptor 15 ligand, anti-microbial peptide with 57 amino acid residues, chromosome 10 open reading frame 99, colon-derived SUSD2 binding factor AP-57, C10orf99, CSBF, Em:AC022389.2, FLJ21763, GPR15L, RLLV1833, UNQ1833 Yes No Ensembl:ENSG00000188373, GeneCard:C10orf99, HGNC:HGNC:31428, NCBI Gene:387695, RefSeq DNA:NT_030059, RefSeq Protein:NP_997256, RefSeq RNA:NM_207373, UniProtKB:Q6UWK7 No chr10 85933511 85945050 84173764 84185294 +PA134936972 26996 HGNC:23693 ENSG00000173890 G protein-coupled receptor 160 GPR160 GPCR1, GPCR150 Yes No Ensembl:ENSG00000173890, GeneCard:GPR160, HGNC:HGNC:23693, HumanCyc Gene:HS10744, IUPHAR Receptor:140, ModBase:Q9UJ42, NCBI Gene:26996, RefSeq DNA:NT_005612, RefSeq Protein:NP_055188, RefSeq RNA:NM_014373, UniProtKB:Q9UJ42 No chr3 169755735 169803184 170037323 170085415 +PA134931474 23432 HGNC:23694 ENSG00000143147 G protein-coupled receptor 161 GPR161 RE2 Yes No Comparative Toxicogenomics Database:23432, Ensembl:ENSG00000143147, GeneCard:GPR161, HGNC:HGNC:23694, HumanCyc Gene:HS06990, IUPHAR Receptor:141, ModBase:Q8N6U8, NCBI Gene:23432, OMIM:612250, RefSeq DNA:NT_004487, RefSeq Protein:NP_722561, RefSeq RNA:NM_153832, UniProtKB:Q8N6U8 No chr1 168048780 168106905 168079542 168137667 +PA142671713 27239 HGNC:16693 ENSG00000250510 G protein-coupled receptor 162 GPR162 A-2, GRCA Yes No Comparative Toxicogenomics Database:27239, Ensembl:ENSG00000250510, GeneCard:GPR162, HGNC:HGNC:16693, IUPHAR Receptor:142, ModBase:Q16538, NCBI Gene:27239, RefSeq DNA:NT_009759, RefSeq Protein:NP_055264, RefSeq Protein:NP_062832, RefSeq RNA:NM_014449, RefSeq RNA:NM_019858, UniProtKB:Q16538 No chr12 6930963 6936583 6821797 6827418 +PA143485484 392486 HGNC:21462 G protein-coupled receptor 165 pseudogene GPR165P 6530406P05Rik, PGR15 Yes No GeneCard:GPR165P, HGNC:HGNC:21462, NCBI Gene:392486, RefSeq DNA:NG_005303, RefSeq DNA:NT_011669 No chrX 65657809 65661621 66437967 66441779 +PA145008259 442206 HGNC:23626 G protein-coupled receptor 166 pseudogene GPR166P PGR9 Yes No GeneCard:GPR166P, HGNC:HGNC:23626, NCBI Gene:442206, RefSeq DNA:NG_005635, RefSeq DNA:NT_007592 No chr6 36704887 36705660 36737110 36737883 +PA28859 2840 HGNC:4471 ENSG00000144230 G protein-coupled receptor 17 GPR17 Yes No Comparative Toxicogenomics Database:2840, Ensembl:ENSG00000144230, GenAtlas:GPR17, GeneCard:GPR17, HGNC:HGNC:4471, HumanCyc Gene:HS07160, IUPHAR Receptor:88, ModBase:Q13304, NCBI Gene:2840, OMIM:603071, RefSeq DNA:NT_022135, RefSeq Protein:NP_001154887, RefSeq Protein:NP_001154888, RefSeq Protein:NP_001154889, RefSeq Protein:NP_005282, RefSeq RNA:NM_001161415, RefSeq RNA:NM_001161416, RefSeq RNA:NM_001161417, RefSeq RNA:NM_005291, UCSC Genome Browser:NM_005291, UniProtKB:Q13304 No chr2 128403439 128410213 127645864 127652639 +PA134948560 29909 HGNC:30057 ENSG00000174946 G protein-coupled receptor 171 GPR171 platelet activating receptor homolog H963 Yes No Ensembl:ENSG00000174946, GeneCard:GPR171, HGNC:HGNC:30057, HumanCyc Gene:HS10854, IUPHAR Receptor:143, ModBase:O14626, NCBI Gene:29909, RefSeq DNA:NT_005612, RefSeq Protein:NP_037440, RefSeq RNA:NM_013308, UniProtKB:O14626 No chr3 150915537 150920997 151197754 151203674 +PA134896710 54328 HGNC:18186 ENSG00000184194 G protein-coupled receptor 173 GPR173 SREB3 Yes No Comparative Toxicogenomics Database:54328, Ensembl:ENSG00000184194, GeneCard:GPR173, HGNC:HGNC:18186, IUPHAR Receptor:144, ModBase:Q9NS66, NCBI Gene:54328, OMIM:300253, RefSeq DNA:NG_015966, RefSeq DNA:NT_011630, RefSeq Protein:NP_061842, RefSeq RNA:NM_018969, UniProtKB:Q9NS66 No chrX 53078506 53109797 53049324 53080615 +PA134971573 84636 HGNC:30245 ENSG00000147138 G protein-coupled receptor 174 GPR174 lysophosphatidylserine receptor 3 FKSG79, LPS3 Yes No Ensembl:ENSG00000147138, GeneCard:GPR174, HGNC:HGNC:30245, HumanCyc Gene:HS07399, IUPHAR Receptor:145, ModBase:Q9BXC1, NCBI Gene:84636, RefSeq DNA:NG_016565, RefSeq DNA:NT_011651, RefSeq Protein:NP_115942, RefSeq RNA:NM_032553, UniProtKB:Q9BXC1 No chrX 78400512 78430815 79170972 79172229 +PA142671712 11245 HGNC:32370 ENSG00000166073 G protein-coupled receptor 176 GPR176 Gm1012 Yes No Comparative Toxicogenomics Database:11245, Ensembl:ENSG00000166073, GeneCard:GPR176, HGNC:HGNC:32370, HumanCyc Gene:HS09326, ModBase:Q14439, NCBI Gene:11245, OMIM:612183, RefSeq DNA:NT_010194, RefSeq Protein:NP_009154, RefSeq RNA:NM_007223, UniProtKB:Q14439 No chr15 40091223 40213093 39795049 39920933 +PA134900696 440435 HGNC:31371 ENSG00000277399 G protein-coupled receptor 179 GPR179 CSNB1E, GPR158L1 Yes No Ensembl:ENSG00000277399, GeneCard:GPR179, HGNC:HGNC:31371, IUPHAR Receptor:211, ModBase:Q6PRD1, NCBI Gene:440435, RefSeq DNA:NT_010783, RefSeq Protein:NP_001004334, RefSeq RNA:NM_001004334, UniProtKB:Q6PRD1 No chr17 36481493 36499693 38325610 38343810 +PA28860 2841 HGNC:4472 ENSG00000125245 G protein-coupled receptor 18 GPR18 resolvin D2 receptor DRV2 Yes No Ensembl:ENSG00000125245, GenAtlas:GPR18, GeneCard:GPR18, HGNC:HGNC:4472, HumanCyc Gene:HS04861, IUPHAR Receptor:89, ModBase:Q14330, NCBI Gene:2841, OMIM:602042, RefSeq DNA:NT_009952, RefSeq Protein:NP_001091670, RefSeq Protein:NP_005283, RefSeq RNA:NM_001098200, RefSeq RNA:NM_005292, UCSC Genome Browser:NM_005292, UniProtKB:Q14330 No chr13 99906967 99910682 99254713 99262498 +PA144596429 160897 HGNC:28899 ENSG00000152749 G protein-coupled receptor 180 GPR180 intimal thickness related receptor ITR Yes No Comparative Toxicogenomics Database:160897, Ensembl:ENSG00000152749, GeneCard:GPR180, HGNC:HGNC:28899, ModBase:Q86V85, NCBI Gene:160897, OMIM:607787, RefSeq DNA:NT_009952, RefSeq Protein:NP_851320, RefSeq RNA:NM_180989, UniProtKB:Q86V85 No chr13 95254104 95286899 94601850 94634645 +PA162390165 11318 HGNC:13708 ENSG00000166856 G protein-coupled receptor 182 GPR182 ADMR, AM-R, G10D, hrhAMR Yes No Ensembl:ENSG00000166856, GeneCard:GPR182, HGNC:HGNC:13708, HumanCyc Gene:HS09463, IUPHAR Receptor:146, ModBase:O15218, NCBI Gene:11318, OMIM:605307, RefSeq DNA:NT_029419, RefSeq Protein:NP_009195, RefSeq RNA:NM_007264, UniProtKB:O15218 No chr12 57388355 57390469 56993895 56998441 +PA162390174 1880 HGNC:3128 ENSG00000169508 G protein-coupled receptor 183 GPR183 EBV-induced G-protein coupled receptor 2 EBI2 Yes No Ensembl:ENSG00000169508, GeneCard:GPR183, HGNC:HGNC:3128, HumanCyc Gene:HS09962, IUPHAR Receptor:81, ModBase:P32249, NCBI Gene:1880, OMIM:605741, RefSeq DNA:NT_009952, RefSeq Protein:NP_004942, RefSeq RNA:NM_004951, UniProtKB:P32249 No chr13 99946789 99959749 99294273 99307495 +PA28861 2842 HGNC:4473 ENSG00000183150 G protein-coupled receptor 19 GPR19 Yes No Comparative Toxicogenomics Database:2842, Ensembl:ENSG00000183150, GenAtlas:GPR19, GeneCard:GPR19, HGNC:HGNC:4473, IUPHAR Receptor:90, ModBase:Q15760, NCBI Gene:2842, OMIM:602927, RefSeq DNA:NT_009714, RefSeq Protein:NP_006134, RefSeq RNA:NM_006143, UCSC Genome Browser:NM_006143, UniProtKB:Q15760, UniProtKB:Q6IBH2 No chr12 12813995 12849121 12659691 12716305 +PA28863 2843 HGNC:4475 ENSG00000204882 G protein-coupled receptor 20 GPR20 Yes No Comparative Toxicogenomics Database:2843, Ensembl:ENSG00000204882, GenAtlas:GPR20, GeneCard:GPR20, HGNC:HGNC:4475, IUPHAR Receptor:91, ModBase:Q99678, NCBI Gene:2843, OMIM:601908, RefSeq DNA:NT_008046, RefSeq Protein:NP_005284, RefSeq RNA:NM_005293, UCSC Genome Browser:NM_005293, UniProtKB:Q59GP3, UniProtKB:Q99678 No chr8 142366585 142377365 141356485 141367265 +PA28864 2844 HGNC:4476 ENSG00000188394 G protein-coupled receptor 21 GPR21 Yes No Ensembl:ENSG00000188394, GenAtlas:GPR21, GeneCard:GPR21, HGNC:HGNC:4476, IUPHAR Receptor:92, ModBase:Q99679, NCBI Gene:2844, OMIM:601909, RefSeq DNA:NT_008470, RefSeq Protein:NP_005285, RefSeq RNA:NM_005294, UCSC Genome Browser:NM_005294, UniProtKB:Q99679 No chr9 125795916 125801380 123027342 123042751 +PA28865 2845 HGNC:4477 ENSG00000172209 G protein-coupled receptor 22 GPR22 Yes No Ensembl:ENSG00000172209, GenAtlas:GPR22, GeneCard:GPR22, HGNC:HGNC:4477, HumanCyc Gene:HS10470, IUPHAR Receptor:93, ModBase:Q99680, NCBI Gene:2845, OMIM:601910, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_005286, RefSeq RNA:NM_005295, UCSC Genome Browser:NM_005295, UniProtKB:A4D0R8, UniProtKB:B3KV13, UniProtKB:Q3KNS9, UniProtKB:Q99680 No chr7 107110502 107116125 107470057 107476207 +PA28868 2848 HGNC:4480 ENSG00000170128 G protein-coupled receptor 25 GPR25 Yes No Comparative Toxicogenomics Database:2848, Ensembl:ENSG00000170128, GenAtlas:GPR25, GeneCard:GPR25, HGNC:HGNC:4480, HumanCyc Gene:HS10071, IUPHAR Receptor:95, ModBase:O00155, NCBI Gene:2848, OMIM:602174, RefSeq DNA:NT_004487, RefSeq Protein:NP_005289, RefSeq RNA:NM_005298, UCSC Genome Browser:NM_005298, UniProtKB:O00155 No chr1 200842083 200843306 200872955 200874178 +PA28869 2849 HGNC:4481 ENSG00000154478 G protein-coupled receptor 26 GPR26 Yes No Ensembl:ENSG00000154478, GenAtlas:GPR26, GeneCard:GPR26, HGNC:HGNC:4481, HumanCyc Gene:HS07982, IUPHAR Receptor:96, ModBase:Q8NDV2, NCBI Gene:2849, OMIM:604847, RefSeq DNA:NT_030059, RefSeq Protein:NP_703143, RefSeq RNA:NM_153442, UCSC Genome Browser:NM_153442, UniProtKB:Q8NDV2 No chr10 125425871 125456915 123666355 123697399 +PA28870 2850 HGNC:4482 ENSG00000170837 G protein-coupled receptor 27 GPR27 SREB1 Yes No Comparative Toxicogenomics Database:2850, Ensembl:ENSG00000170837, GenAtlas:GPR27, GeneCard:GPR27, HGNC:HGNC:4482, HumanCyc Gene:HS10192, IUPHAR Receptor:97, ModBase:Q9NS67, NCBI Gene:2850, OMIM:605187, RefSeq DNA:NT_022459, RefSeq Protein:NP_061844, RefSeq RNA:NM_018971, UCSC Genome Browser:NM_018971, UniProtKB:Q9NS67 No chr3 71803201 71804328 71754050 71755177 +PA28872 2827 HGNC:4484 ENSG00000181773 G protein-coupled receptor 3 GPR3 adenylate cyclase constitutive activator ACCA Yes No Ensembl:ENSG00000181773, GenAtlas:GPR3, GeneCard:GPR3, HGNC:HGNC:4484, HumanCyc Gene:HS11657, IUPHAR Receptor:83, ModBase:P46089, NCBI Gene:2827, OMIM:600241, RefSeq DNA:NT_004610, RefSeq Protein:NP_005272, RefSeq RNA:NM_005281, UCSC Genome Browser:NM_005281, UniProtKB:P46089 No chr1 27719148 27722318 27392644 27395814 +PA28874 2853 HGNC:4486 ENSG00000120436 G protein-coupled receptor 31 GPR31 12-(S)-HETE acid receptor, hydroxyeicosatetraenoic (HETE) acid receptor 1 12-HETER, HETER1 Yes No Ensembl:ENSG00000120436, GenAtlas:GPR31, GeneCard:GPR31, HGNC:HGNC:4486, HumanCyc Gene:HS04398, IUPHAR Receptor:98, ModBase:O00270, NCBI Gene:2853, OMIM:602043, RefSeq DNA:NT_025741, RefSeq Protein:NP_005290, RefSeq RNA:NM_005299, UCSC Genome Browser:NM_005299, UniProtKB:O00270, UniProtKB:Q4VBL3 No chr6 167570360 167571319 167156872 167157831 +PA28875 2854 HGNC:4487 ENSG00000142511 G protein-coupled receptor 32 GPR32 resolvin D1 receptor DRV1, RVDR1 Yes No Comparative Toxicogenomics Database:2854, Ensembl:ENSG00000142511, GenAtlas:GPR32, GeneCard:GPR32, HGNC:HGNC:4487, HumanCyc Gene:HS06928, IUPHAR Receptor:99, ModBase:O75388, NCBI Gene:2854, OMIM:603195, RefSeq DNA:NT_011109, RefSeq Protein:NP_001497, RefSeq RNA:NM_001506, UCSC Genome Browser:NM_001506, UniProtKB:O75388 No chr19 51273721 51274989 50770464 50771732 +PA28876 2855 HGNC:4488 ENSG00000269565 G protein-coupled receptor 32, pseudogene 1 GPR32P1 Yes No Ensembl:ENSG00000269565, GenAtlas:GPR32P, GeneCard:GPR32P1, HGNC:HGNC:4488, NCBI Gene:2855, RefSeq DNA:NG_001131, RefSeq DNA:NT_011109 No chr19 51261490 51262758 50758233 50759501 +PA28877 2856 HGNC:4489 ENSG00000214943 G protein-coupled receptor 33 GPR33 G protein-coupled receptor 33 (gene/pseudogene) Yes No Ensembl:ENSG00000214943, GenAtlas:GPR33, GeneCard:GPR33, HGNC:HGNC:4489, IUPHAR Receptor:100, ModBase:Q49SQ1, NCBI Gene:2856, OMIM:610118, RefSeq DNA:NG_001132, RefSeq DNA:NT_026437, RefSeq Protein:NP_001184113, RefSeq RNA:NM_001197184, RefSeq RNA:NR_036675 No chr14 31952150 31957151 31482944 31487945 +PA28878 2857 HGNC:4490 ENSG00000171659 G protein-coupled receptor 34 GPR34 lysophosphatidylserine receptor 1 LPS1 Yes No Ensembl:ENSG00000171659, GenAtlas:GPR34, GeneCard:GPR34, HGNC:HGNC:4490, HumanCyc Gene:HS10363, IUPHAR Receptor:101, ModBase:Q9UPC5, NCBI Gene:2857, OMIM:300241, RefSeq DNA:NT_079573, RefSeq Protein:NP_001091048, RefSeq Protein:NP_005291, RefSeq RNA:NM_001097579, RefSeq RNA:NM_005300, UCSC Genome Browser:NM_005300, UniProtKB:Q5VT14, UniProtKB:Q9UPC5 No chrX 41548221 41556530 41686543 41697277 +PA28880 2859 HGNC:4492 ENSG00000178623 G protein-coupled receptor 35 GPR35 Yes Yes Comparative Toxicogenomics Database:2859, Ensembl:ENSG00000178623, GenAtlas:GPR35, GeneCard:GPR35, HGNC:HGNC:4492, HumanCyc Gene:HS11303, IUPHAR Receptor:102, ModBase:Q9HC97, NCBI Gene:2859, OMIM:602646, RefSeq DNA:NT_005416, RefSeq Protein:NP_001182310, RefSeq Protein:NP_001182311, RefSeq Protein:NP_005292, RefSeq RNA:NM_001195381, RefSeq RNA:NM_001195382, RefSeq RNA:NM_005301, UCSC Genome Browser:NM_005301, UniProtKB:Q9HC97 No chr2 241544825 241570676 240605408 240631259 +PA28881 2860 HGNC:4493 G protein-coupled receptor 36 GPR36 Yes No GenAtlas:GPR36, GeneCard:GPR36, HGNC:HGNC:4493, NCBI Gene:2860 No +PA28882 2861 HGNC:4494 ENSG00000170775 G protein-coupled receptor 37 GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like), endothelin receptor type B-like EDNRBL, PAELR, hET(B)R-LP Yes No Comparative Toxicogenomics Database:2861, Ensembl:ENSG00000170775, GenAtlas:GPR37, GeneCard:GPR37, HGNC:HGNC:4494, HumanCyc Gene:HS10176, IUPHAR Receptor:103, ModBase:O15354, NCBI Gene:2861, OMIM:602583, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_005293, RefSeq RNA:NM_005302, UCSC Genome Browser:NM_005302, UniProtKB:A4D0Y6, UniProtKB:O15354 No chr7 124385655 124406079 124745601 124766025 +PA28883 9283 HGNC:14923 ENSG00000170075 G protein-coupled receptor 37 like 1 GPR37L1 ETBR-LP-2 Yes No Ensembl:ENSG00000170075, GenAtlas:GPR37L1, GeneCard:GPR37L1, HGNC:HGNC:14923, HumanCyc Gene:HS10064, IUPHAR Receptor:104, ModBase:O60883, NCBI Gene:9283, RefSeq DNA:NT_004487, RefSeq Protein:NP_004758, RefSeq RNA:NM_004767, UniProtKB:O60883 No chr1 202092029 202098634 202118669 202133588 +PA28885 2863 HGNC:4496 ENSG00000183840 G protein-coupled receptor 39 GPR39 zinc sensing receptor ZnR Yes No Comparative Toxicogenomics Database:2863, Ensembl:ENSG00000183840, GenAtlas:GPR39, GeneCard:GPR39, HGNC:HGNC:4496, IUPHAR Receptor:105, ModBase:O43194, NCBI Gene:2863, OMIM:602886, RefSeq DNA:NT_022135, RefSeq Protein:NP_001499, RefSeq RNA:NM_001508, UCSC Genome Browser:NM_001508, UniProtKB:O43194 No chr2 133174147 133404169 132415972 132646596 +PA28886 2828 HGNC:4497 ENSG00000177464 G protein-coupled receptor 4 GPR4 Yes No Comparative Toxicogenomics Database:2828, Ensembl:ENSG00000177464, GenAtlas:GPR4, GeneCard:GPR4, HGNC:HGNC:4497, HumanCyc Gene:HS11172, IUPHAR Receptor:84, ModBase:P46093, NCBI Gene:2828, OMIM:600551, RefSeq DNA:NT_011109, RefSeq Protein:NP_005273, RefSeq RNA:NM_005282, UCSC Genome Browser:NM_005282, UniProtKB:P46093 No chr19 46093022 46105466 45589764 45602208 +PA28889 2866 HGNC:4500 ENSG00000126251 G protein-coupled receptor 42 GPR42 G protein-coupled receptor 42 (gene/pseudogene) FFAR3L, GPR41L, GPR42P Yes No Ensembl:ENSG00000126251, GenAtlas:GPR42, GeneCard:GPR42, HGNC:HGNC:4500, HumanCyc Gene:HS05004, IUPHAR Receptor:228, ModBase:O15529, NCBI Gene:2866, OMIM:603822, RefSeq DNA:NG_008348, RefSeq DNA:NT_011109, UCSC Genome Browser:NM_005305 No chr19 35862262 35863302 35371346 35372600 +PA28892 11250 HGNC:4503 ENSG00000135973 G protein-coupled receptor 45 GPR45 PSP24, PSP24A Yes No Comparative Toxicogenomics Database:11250, Ensembl:ENSG00000135973, GenAtlas:GPR45, GeneCard:GPR45, HGNC:HGNC:4503, HumanCyc Gene:HS06097, IUPHAR Receptor:106, ModBase:Q9Y5Y3, NCBI Gene:11250, OMIM:604838, RefSeq DNA:NT_022171, RefSeq Protein:NP_009158, RefSeq RNA:NM_007227, UCSC Genome Browser:NM_007227, UniProtKB:B5B0C1, UniProtKB:O43898, UniProtKB:Q9Y5Y3 No chr2 105839595 105860085 105241743 105243467 +PA28895 9248 HGNC:4506 ENSG00000102195 G protein-coupled receptor 50 GPR50 H9, Mel1c Yes No Comparative Toxicogenomics Database:9248, Ensembl:ENSG00000102195, GenAtlas:GPR50, GeneCard:GPR50, HGNC:HGNC:4506, HumanCyc Gene:HS02366, IUPHAR Receptor:107, ModBase:Q13585, NCBI Gene:9248, OMIM:300207, RefSeq DNA:NG_016405, RefSeq DNA:NT_167198, RefSeq Protein:NP_004215, RefSeq RNA:NM_004224, UCSC Genome Browser:NM_004224, UniProtKB:Q13585 No chrX 150345056 150349937 151176584 151182855 +PA28897 9293 HGNC:4508 ENSG00000203737 G protein-coupled receptor 52 GPR52 Yes No Ensembl:ENSG00000203737, GenAtlas:GPR52, GeneCard:GPR52, HGNC:HGNC:4508, IUPHAR Receptor:108, ModBase:Q9Y2T5, NCBI Gene:9293, OMIM:604106, RefSeq DNA:NT_004487, RefSeq Protein:NP_005675, RefSeq RNA:NM_005684, UCSC Genome Browser:NM_005684, UniProtKB:Q9Y2T5 No chr1 174417212 174418683 174448074 174449545 +PA28898 9292 HGNC:4509 ENSG00000229281 G protein-coupled receptor 53, pseudogene GPR53P PsiGPR53, dJ271M21.8 Yes No Ensembl:ENSG00000229281, GenAtlas:GPR53P, GeneCard:GPR53P, HGNC:HGNC:4509, NCBI Gene:9292, RefSeq DNA:NG_001217, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29505589 29506428 29537812 29538651 +PA28900 9290 HGNC:4511 ENSG00000135898 G protein-coupled receptor 55 GPR55 Yes No Ensembl:ENSG00000135898, GenAtlas:GPR55, GeneCard:GPR55, HGNC:HGNC:4511, HumanCyc Gene:HS06075, IUPHAR Receptor:109, ModBase:Q9Y2T6, NCBI Gene:9290, OMIM:604107, RefSeq DNA:NT_005403, RefSeq Protein:NP_005674, RefSeq RNA:NM_005683, UCSC Genome Browser:NM_005683, UniProtKB:A8K858, UniProtKB:Q9Y2T6 No chr2 231772043 231789953 230907318 230961269 +PA28904 2830 HGNC:4515 ENSG00000146360 G protein-coupled receptor 6 GPR6 Yes No Comparative Toxicogenomics Database:2830, Ensembl:ENSG00000146360, GenAtlas:GPR6, GeneCard:GPR6, HGNC:HGNC:4515, HumanCyc Gene:HS07342, IUPHAR Receptor:85, ModBase:P46095, NCBI Gene:2830, OMIM:600553, RefSeq DNA:NT_025741, RefSeq Protein:NP_005275, RefSeq RNA:NM_005284, UCSC Genome Browser:NM_005284, UniProtKB:P46095 No chr6 110299459 110301923 109978256 109980720 +PA28905 83873 HGNC:13300 ENSG00000156097 G protein-coupled receptor 61 GPR61 BALGR Yes No Comparative Toxicogenomics Database:83873, Ensembl:ENSG00000156097, GenAtlas:GPR61, GeneCard:GPR61, HGNC:HGNC:13300, HumanCyc Gene:HS08095, IUPHAR Receptor:110, ModBase:Q9BZJ8, NCBI Gene:83873, OMIM:606916, RefSeq DNA:NT_032977, RefSeq Protein:NP_114142, RefSeq RNA:NM_031936, UCSC Genome Browser:NM_031936, UniProtKB:Q9BZJ8 No chr1 110082494 110088487 109537539 109547260 +PA28906 118442 HGNC:13301 ENSG00000180929 G protein-coupled receptor 62 GPR62 Yes No Ensembl:ENSG00000180929, GenAtlas:GPR62, GeneCard:GPR62, HGNC:HGNC:13301, HumanCyc Gene:HS11553, IUPHAR Receptor:111, ModBase:Q9BZJ7, NCBI Gene:118442, OMIM:606917, RefSeq DNA:NT_022517, RefSeq Protein:NP_543141, RefSeq RNA:NM_080865, UCSC Genome Browser:NM_080865, UniProtKB:Q8TAM0, UniProtKB:Q9BZJ7 No chr3 51989330 51991520 51955314 51957504 +PA28907 81491 HGNC:13302 ENSG00000112218 G protein-coupled receptor 63 GPR63 PSP24(beta), PSP24B Yes No Ensembl:ENSG00000112218, GenAtlas:GPR63, GeneCard:GPR63, HGNC:HGNC:13302, HumanCyc Gene:HS03535, IUPHAR Receptor:112, ModBase:Q9BZJ6, NCBI Gene:81491, OMIM:606915, RefSeq DNA:NT_025741, RefSeq Protein:NP_001137429, RefSeq Protein:NP_110411, RefSeq RNA:NM_001143957, RefSeq RNA:NM_030784, UCSC Genome Browser:NM_030784, UniProtKB:A8K1C4, UniProtKB:Q9BZJ6 No chr6 97241998 97285353 96794122 96837477 +PA28909 8477 HGNC:4517 ENSG00000140030 G protein-coupled receptor 65 GPR65 TDAG8, hTDAG8 Yes No Comparative Toxicogenomics Database:8477, Ensembl:ENSG00000140030, GenAtlas:GPR65, GeneCard:GPR65, HGNC:HGNC:4517, HumanCyc Gene:HS06679, IUPHAR Receptor:113, ModBase:Q8IYL9, NCBI Gene:8477, OMIM:604620, RefSeq DNA:NT_026437, RefSeq Protein:NP_003599, RefSeq RNA:NM_003608, UCSC Genome Browser:NM_003608, UniProtKB:B5B0C2, UniProtKB:Q8IYL9 No chr14 88471468 88481155 88005124 88014811 +PA28911 8111 HGNC:4519 ENSG00000119714 G protein-coupled receptor 68 GPR68 OGR1 Yes No Ensembl:ENSG00000119714, GenAtlas:GPR68, GeneCard:GPR68, HGNC:HGNC:4519, HumanCyc Gene:HS04330, IUPHAR Receptor:114, ModBase:Q15743, NCBI Gene:8111, OMIM:601404, RefSeq DNA:NT_026437, RefSeq Protein:NP_001171147, RefSeq Protein:NP_003476, RefSeq RNA:NM_001177676, RefSeq RNA:NM_003485, UCSC Genome Browser:NM_003485, UniProtKB:A1A5B2, UniProtKB:Q15743 No chr14 91698876 91730898 91232532 91264581 +PA28919 10936 HGNC:4526 ENSG00000119737 G protein-coupled receptor 75 GPR75 WI-31133 Yes No Ensembl:ENSG00000119737, GenAtlas:GPR75, GeneCard:GPR75, HGNC:HGNC:4526, HumanCyc Gene:HS04335, IUPHAR Receptor:115, ModBase:O95800, NCBI Gene:10936, OMIM:606704, RefSeq DNA:NT_022184, RefSeq Protein:NP_006785, RefSeq RNA:NM_006794, UCSC Genome Browser:NM_006794, UniProtKB:O95800 No chr2 54080050 54087170 53852913 53860033 +PA28921 27201 HGNC:4528 ENSG00000155269 G protein-coupled receptor 78 GPR78 Yes No Ensembl:ENSG00000155269, GenAtlas:GPR78, GeneCard:GPR78, HGNC:HGNC:4528, HumanCyc Gene:HS08038, IUPHAR Receptor:116, ModBase:Q96P69, NCBI Gene:27201, OMIM:606921, RefSeq DNA:NT_006051, RefSeq Protein:NP_543009, RefSeq RNA:NM_080819, UCSC Genome Browser:NM_080819, UniProtKB:B2R7M4, UniProtKB:Q96P69 No chr4 8581964 8591750 8580237 8590023 +PA28922 27200 HGNC:4529 ENSG00000232374 G protein-coupled receptor 79, pseudogene GPR79 GPR79P Yes No Ensembl:ENSG00000232374, GenAtlas:GPR79, GeneCard:GPR79, HGNC:HGNC:4529, IUPHAR Receptor:117, NCBI Gene:27200, RefSeq DNA:NG_001272, RefSeq DNA:NT_005612 No chr3 158558856 158559873 158841067 158842084 +PA28926 27197 HGNC:4533 ENSG00000171657 G protein-coupled receptor 82 GPR82 Yes No Ensembl:ENSG00000171657, GenAtlas:GPR82, GeneCard:GPR82, HGNC:HGNC:4533, HumanCyc Gene:HS10362, IUPHAR Receptor:118, ModBase:Q96P67, NCBI Gene:27197, OMIM:300748, RefSeq DNA:NG_016566, RefSeq DNA:NT_079573, RefSeq Protein:NP_543007, RefSeq RNA:NM_080817, UCSC Genome Browser:NM_080817, UniProtKB:Q5VT13, UniProtKB:Q96P67 No chrX 41583408 41589388 41724155 41730135 +PA28927 10888 HGNC:4523 ENSG00000123901 G protein-coupled receptor 83 GPR83 GPR72 Yes Yes Comparative Toxicogenomics Database:10888, Ensembl:ENSG00000123901, GenAtlas:GPR83, GeneCard:GPR83, HGNC:HGNC:4523, HumanCyc Gene:HS04698, IUPHAR Receptor:119, ModBase:Q9NYM4, NCBI Gene:10888, OMIM:605569, RefSeq DNA:NT_167190, RefSeq Protein:NP_057624, RefSeq RNA:NM_016540, UCSC Genome Browser:NM_016540, UniProtKB:Q9NYM4 No chr11 94110477 94134585 94377311 94401479 +PA28928 53831 HGNC:4535 ENSG00000139572 G protein-coupled receptor 84 GPR84 EX33 Yes No Ensembl:ENSG00000139572, GenAtlas:GPR84, GeneCard:GPR84, HGNC:HGNC:4535, HumanCyc Gene:HS06632, IUPHAR Receptor:120, ModBase:Q9NQS5, NCBI Gene:53831, OMIM:606383, RefSeq DNA:NT_029419, RefSeq Protein:NP_065103, RefSeq RNA:NM_020370, UCSC Genome Browser:NM_020370, UniProtKB:Q9NQS5 No chr12 54756229 54758270 54362445 54365224 +PA28929 54329 HGNC:4536 ENSG00000164604 G protein-coupled receptor 85 GPR85 SREB2 Yes No Comparative Toxicogenomics Database:54329, Ensembl:ENSG00000164604, GenAtlas:GPR85, GeneCard:GPR85, HGNC:HGNC:4536, HumanCyc Gene:HS09100, IUPHAR Receptor:121, ModBase:P60893, NCBI Gene:54329, OMIM:605188, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001139737, RefSeq Protein:NP_001139738, RefSeq Protein:NP_001139739, RefSeq Protein:NP_061843, RefSeq RNA:NM_001146265, RefSeq RNA:NM_001146266, RefSeq RNA:NM_001146267, RefSeq RNA:NM_018970, UCSC Genome Browser:NM_018970, UniProtKB:A4D0T8, UniProtKB:P60893, UniProtKB:Q8NEN2 No chr7 112720468 112727833 113080413 113087778 +PA28931 53836 HGNC:4538 ENSG00000138271 G protein-coupled receptor 87 GPR87 GPR95 Yes No Ensembl:ENSG00000138271, GenAtlas:GPR87, GeneCard:GPR87, HGNC:HGNC:4538, HumanCyc Gene:HS06477, IUPHAR Receptor:122, ModBase:Q9BY21, NCBI Gene:53836, OMIM:606379, RefSeq DNA:NT_005612, RefSeq Protein:NP_076404, RefSeq RNA:NM_023915, UCSC Genome Browser:NM_023915, UniProtKB:Q9BY21 No chr3 151011874 151034636 151294086 151316848 +PA28932 54112 HGNC:4539 ENSG00000181656 G protein-coupled receptor 88 GPR88 Yes No Comparative Toxicogenomics Database:54112, Ensembl:ENSG00000181656, GenAtlas:GPR88, GeneCard:GPR88, HGNC:HGNC:4539, HumanCyc Gene:HS11643, IUPHAR Receptor:123, ModBase:Q9GZN0, NCBI Gene:54112, OMIM:607468, RefSeq DNA:NT_032977, RefSeq Protein:NP_071332, RefSeq RNA:NM_022049, UCSC Genome Browser:NM_022049, UniProtKB:Q9GZN0 No chr1 101003728 101007583 100538172 100542027 +PA134986137 653519 HGNC:31984 ENSG00000117262 G protein-coupled receptor 89A GPR89A UNQ192 Yes No Ensembl:ENSG00000117262, GeneCard:GPR89A, HGNC:HGNC:31984, NCBI Gene:653519, OMIM:612821, RefSeq DNA:NT_167185, RefSeq Protein:NP_001091081, RefSeq Protein:NP_001091082, RefSeq RNA:NM_001097612, RefSeq RNA:NM_001097613, RefSeq RNA:NR_036541, UniProtKB:B7ZAQ6, UniProtKB:P0CG08 No chr1 145764595 145827103 145607960 145670977 +PA143485480 51463 HGNC:13840 ENSG00000117262, ENSG00000188092 G protein-coupled receptor 89B GPR89B GPR89, GPR89C, LINC02804, SH120 Yes No Ensembl:ENSG00000117262, Ensembl:ENSG00000188092, GeneCard:GPR89B, HGNC:HGNC:13840, HumanCyc Gene:HS04110, ModBase:Q6NVY5, NCBI Gene:51463, OMIM:612806, RefSeq DNA:NT_167185, RefSeq Protein:NP_057418, RefSeq RNA:NM_016334 No chr1 147400506 147465753 147928393 147993523 +PA134892325 394254 HGNC:13951 ENSG00000216915 G protein-coupled receptor 89 pseudogene GPR89P C11H1.2-Lp Yes No Ensembl:ENSG00000216915, GeneCard:GPR89P, HGNC:HGNC:13951, NCBI Gene:394254, RefSeq DNA:NG_000934, RefSeq DNA:NT_007592 No chr6 27704354 27706293 27736575 27738514 +PA166351827 HGNC:4541 G protein-coupled receptor 90 GPR90 Yes No HGNC:HGNC:4541 No 0 0 0 0 +PA134970616 9737 HGNC:24834 ENSG00000198932 G protein-coupled receptor associated sorting protein 1 GPRASP1 GASP, GASP1 Yes No Comparative Toxicogenomics Database:9737, Ensembl:ENSG00000198932, GeneCard:GPRASP1, HGNC:HGNC:24834, ModBase:Q5JY77, NCBI Gene:9737, OMIM:300417, RefSeq DNA:NG_021332, RefSeq DNA:NT_011651, RefSeq Protein:NP_001092880, RefSeq Protein:NP_001092881, RefSeq Protein:NP_001171656, RefSeq Protein:NP_055525, RefSeq RNA:NM_001099410, RefSeq RNA:NM_001099411, RefSeq RNA:NM_001184727, RefSeq RNA:NM_014710, UniProtKB:Q5JY77 No chrX 101906294 101914011 102651366 102659083 +PA134976848 114928 HGNC:25169 ENSG00000158301 G protein-coupled receptor associated sorting protein 2 GPRASP2 FLJ37327, GASP2 Yes No Ensembl:ENSG00000158301, GeneCard:GPRASP2, HGNC:HGNC:25169, HumanCyc Gene:HS14710, ModBase:Q96D09, NCBI Gene:114928, RefSeq DNA:NG_021322, RefSeq DNA:NT_011651, RefSeq Protein:NP_001004051, RefSeq Protein:NP_001171803, RefSeq Protein:NP_001171804, RefSeq Protein:NP_001171805, RefSeq Protein:NP_612446, RefSeq RNA:NM_001004051, RefSeq RNA:NM_001184874, RefSeq RNA:NM_001184875, RefSeq RNA:NM_001184876, RefSeq RNA:NM_138437, UniProtKB:Q96D09 No chrX 101967104 101972661 102712176 102717733 +PA134895992 80823 HGNC:29353 ENSG00000198908 G protein-coupled receptor associated sorting protein family member 3 GPRASP3 """basic helix-loop-helix domain containing, class B, 9"", ""basic helix-loop-helix family member b9"", ""p60-transcription-regulator-protein""" BHLHB9, GASP3, KIAA1701, p60TRP Yes No Comparative Toxicogenomics Database:80823, Ensembl:ENSG00000198908, GeneCard:BHLHB9, HGNC:HGNC:29353, ModBase:Q6PI77, NCBI Gene:80823, RefSeq DNA:NG_021340, RefSeq DNA:NT_011651, RefSeq Protein:NP_001135996, RefSeq Protein:NP_001135997, RefSeq Protein:NP_001135998, RefSeq Protein:NP_001135999, RefSeq Protein:NP_001136000, RefSeq Protein:NP_001136001, RefSeq Protein:NP_001136002, RefSeq Protein:NP_085142, RefSeq RNA:NM_001142524, RefSeq RNA:NM_001142525, RefSeq RNA:NM_001142526, RefSeq RNA:NM_001142527, RefSeq RNA:NM_001142528, RefSeq RNA:NM_001142529, RefSeq RNA:NM_001142530, RefSeq RNA:NM_030639, UniProtKB:Q6PI77 No chrX 101975642 102008468 102720714 102752441 +PA34194 9052 HGNC:9836 ENSG00000013588 G protein-coupled receptor class C group 5 member A GPRC5A """G protein-coupled receptor, class C, group 5, member A"", ""G protein-coupled receptor, family C, group 5, member A""" PEIG-1, RAI3, RAIG1, TIG1 Yes No Comparative Toxicogenomics Database:9052, Ensembl:ENSG00000013588, GenAtlas:GPRC5A, GeneCard:GPRC5A, HGNC:HGNC:9836, HumanCyc Gene:HS00353, IUPHAR Receptor:258, ModBase:Q8NFJ5, NCBI Gene:9052, OMIM:604138, RefSeq DNA:NT_009714, RefSeq Protein:NP_003970, RefSeq RNA:NM_003979, UCSC Genome Browser:NM_003979, UniProtKB:Q8NFJ5 No chr12 13043956 13066600 12891022 12913666 +PA28938 51704 HGNC:13308 ENSG00000167191 G protein-coupled receptor class C group 5 member B GPRC5B """G protein-coupled receptor, class C, group 5, member B"", ""G protein-coupled receptor, family C, group 5, member B""" RAIG-2 Yes No Comparative Toxicogenomics Database:51704, Ensembl:ENSG00000167191, GenAtlas:GPRC5B, GeneCard:GPRC5B, HGNC:HGNC:13308, HumanCyc Gene:HS09522, IUPHAR Receptor:259, ModBase:Q9NZH0, NCBI Gene:51704, OMIM:605948, RefSeq DNA:NT_010393, RefSeq Protein:NP_057319, RefSeq RNA:NM_016235, UCSC Genome Browser:NM_016235, UniProtKB:Q9NZH0 No chr16 19870293 19897049 19858971 19886045 +PA28939 55890 HGNC:13309 ENSG00000170412 G protein-coupled receptor class C group 5 member C GPRC5C """G protein-coupled receptor, class C, group 5, member C"", ""G protein-coupled receptor, family C, group 5, member C""" RAIG-3 Yes No Comparative Toxicogenomics Database:55890, Ensembl:ENSG00000170412, GenAtlas:GPRC5C, GeneCard:GPRC5C, HGNC:HGNC:13309, HumanCyc Gene:HS10122, IUPHAR Receptor:260, NCBI Gene:55890, OMIM:605949, RefSeq DNA:NT_010783, RefSeq Protein:NP_061123, RefSeq Protein:NP_071319, RefSeq RNA:NM_018653, RefSeq RNA:NM_022036, UCSC Genome Browser:NM_018653, UniProtKB:Q9BSP0, UniProtKB:Q9NQ84 No chr17 72427480 72447797 74431341 74451658 +PA28940 55507 HGNC:13310 ENSG00000111291 G protein-coupled receptor class C group 5 member D GPRC5D """G protein-coupled receptor, class C, group 5, member D"", ""G protein-coupled receptor, family C, group 5, member D""" Yes No Comparative Toxicogenomics Database:55507, Ensembl:ENSG00000111291, GenAtlas:GPRC5D, GeneCard:GPRC5D, HGNC:HGNC:13310, HumanCyc Gene:HS03397, IUPHAR Receptor:261, ModBase:Q9NZD1, NCBI Gene:55507, OMIM:607437, RefSeq DNA:NT_009714, RefSeq Protein:NP_061124, RefSeq RNA:NM_018654, UCSC Genome Browser:NM_018654, UniProtKB:Q9NZD1 No chr12 13093407 13106828 12940518 12955908 +PA38342 222545 HGNC:18510 ENSG00000173612 G protein-coupled receptor class C group 6 member A GPRC6A """G protein-coupled receptor, class C, group 6, member A"", ""G protein-coupled receptor, family C, group 6, member A""" bA86F4.3 Yes No Ensembl:ENSG00000173612, GenAtlas:GPRC6A, GeneCard:GPRC6A, HGNC:HGNC:18510, HumanCyc Gene:HS10700, IUPHAR Receptor:55, ModBase:Q5T6X5, NCBI Gene:222545, RefSeq DNA:NT_025741, RefSeq Protein:NP_683766, RefSeq RNA:NM_148963, UCSC Genome Browser:NM_148963, UniProtKB:Q5T6X5 No chr6 117113248 117150256 116788512 116831128 +PA162390183 114787 HGNC:24835 ENSG00000169258 G protein regulated inducer of neurite outgrowth 1 GPRIN1 GRIN1, KIAA1893 Yes No Ensembl:ENSG00000169258, GeneCard:GPRIN1, HGNC:HGNC:24835, NCBI Gene:114787, OMIM:611239, RefSeq DNA:NT_023133, RefSeq Protein:NP_443131, RefSeq RNA:NM_052899, UniProtKB:Q7Z2K8 No chr5 176022803 176044339 176595802 176610130 +PA162390192 9721 HGNC:23730 ENSG00000204175 G protein regulated inducer of neurite outgrowth 2 GPRIN2 KIAA0514, MGC15171 Yes No Ensembl:ENSG00000204175, GeneCard:GPRIN2, HGNC:HGNC:23730, ModBase:O60269, NCBI Gene:9721, OMIM:611240, RefSeq DNA:NT_031847, RefSeq Protein:NP_055511, RefSeq RNA:NM_014696, UniProtKB:O60269 No chr10 46993003 47005654 46543963 46556637 +PA162390203 285513 HGNC:27733 ENSG00000185477 GPRIN family member 3 GPRIN3 FLJ42625, GRIN3 Yes No Ensembl:ENSG00000185477, GeneCard:GPRIN3, HGNC:HGNC:27733, ModBase:Q6ZVF9, NCBI Gene:285513, OMIM:611241, RefSeq DNA:NT_016354, RefSeq Protein:NP_938022, RefSeq RNA:NM_198281, UniProtKB:Q6ZVF9 No chr4 90162427 90229161 89237666 89308010 +PA28944 2873 HGNC:4549 ENSG00000169727 G protein pathway suppressor 1 GPS1 COP9 signalosome subunit 1 COPS1, CSN1 Yes No Comparative Toxicogenomics Database:2873, Ensembl:ENSG00000169727, GenAtlas:GPS1, GeneCard:GPS1, HGNC:HGNC:4549, HumanCyc Gene:HS09997, ModBase:Q13098, NCBI Gene:2873, OMIM:601934, RefSeq DNA:NT_010663, RefSeq Protein:NP_004118, RefSeq Protein:NP_997657, RefSeq RNA:NM_004127, RefSeq RNA:NM_212492, UCSC Genome Browser:NM_004127, UniProtKB:Q13098 No chr17 80009746 80015346 82051477 82057470 +PA28945 2874 HGNC:4550 ENSG00000132522 G protein pathway suppressor 2 GPS2 Yes No Comparative Toxicogenomics Database:2874, Ensembl:ENSG00000132522, GenAtlas:GPS2, GeneCard:GPS2, HGNC:HGNC:4550, HumanCyc Gene:HS05650, ModBase:Q13227, NCBI Gene:2874, OMIM:601935, RefSeq DNA:NT_010718, RefSeq Protein:NP_004480, RefSeq RNA:NM_004489, UCSC Genome Browser:NM_004489, UniProtKB:Q13227, UniProtKB:Q6FHM8 No chr17 7215978 7218658 7312659 7315339 +PA134986171 26086 HGNC:17858 ENSG00000160360 G protein signaling modulator 1 GPSM1 AGS3 homolog (C. elegans), G-protein signaling modulator 1 AGS3, DKFZP727I051 Yes No Comparative Toxicogenomics Database:26086, Ensembl:ENSG00000160360, GeneCard:GPSM1, HGNC:HGNC:17858, ModBase:Q86YR5, NCBI Gene:26086, OMIM:609491, RefSeq DNA:NT_024000, RefSeq Protein:NP_001139110, RefSeq Protein:NP_001139111, RefSeq Protein:NP_001186932, RefSeq Protein:NP_056412, RefSeq RNA:NM_001145638, RefSeq RNA:NM_001145639, RefSeq RNA:NM_001200003, RefSeq RNA:NM_015597, UniProtKB:Q86YR5 No chr9 139221932 139254057 136327476 136359605 +PA134993615 29899 HGNC:29501 ENSG00000121957 G protein signaling modulator 2 GPSM2 G-protein signaling modulator 2 DFNB82, LGN, Pins Yes No Comparative Toxicogenomics Database:29899, Ensembl:ENSG00000121957, GeneCard:GPSM2, HGNC:HGNC:29501, HumanCyc Gene:HS04534, ModBase:P81274, NCBI Gene:29899, OMIM:609245, RefSeq DNA:NT_032977, RefSeq Protein:NP_037428, RefSeq RNA:NM_013296, UniProtKB:P81274 No chr1 109417972 109473044 108875350 108934335 +PA25940 63940 HGNC:13945 ENSG00000206314, ENSG00000213654, ENSG00000233490, ENSG00000234243, ENSG00000234508, ENSG00000236697, ENSG00000237052 G protein signaling modulator 3 GPSM3 G-protein signaling modulator 3, activator of G-protein signaling 4 AGS4, C6orf9, G18, G18.1a, G18.1b, G18.2, NG1 Yes No Comparative Toxicogenomics Database:63940, Ensembl:ENSG00000206314, Ensembl:ENSG00000213654, Ensembl:ENSG00000233490, Ensembl:ENSG00000234243, Ensembl:ENSG00000234508, Ensembl:ENSG00000236697, Ensembl:ENSG00000237052, GenAtlas:GPSM3, GeneCard:GPSM3, HGNC:HGNC:13945, HumanCyc Gene:HS03505, ModBase:Q9Y4H4, NCBI Gene:63940, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_071390, RefSeq RNA:NM_022107, UCSC Genome Browser:NM_022107, UniProtKB:A2BFJ3, UniProtKB:Q9Y4H4 No chr6 32158543 32163300 32190766 32195523 +PA28947 2875 HGNC:4552 ENSG00000167701 glutamic--pyruvic transaminase GPT alanine aminotransferase, alanine transaminase, glutamic-pyruvate transaminase (alanine aminotransferase) ALT, ALT1, GPT1, SGPT Yes No Comparative Toxicogenomics Database:2875, Ensembl:ENSG00000167701, GenAtlas:GPT, GeneCard:GPT, HGNC:HGNC:4552, HumanCyc Gene:HS09610, ModBase:P24298, NCBI Gene:2875, OMIM:138200, RefSeq DNA:NG_015828, RefSeq DNA:NT_037704, RefSeq Protein:NP_005300, RefSeq RNA:NM_005309, UCSC Genome Browser:NM_005309, UniProtKB:P24298 No chr8 145729465 145732555 144502217 144507174 +PA28948 84706 HGNC:18062 ENSG00000166123 glutamic--pyruvic transaminase 2 GPT2 alanine aminotransferase 2, glutamic pyruvate transaminase (alanine aminotransferase) 2 ALT2 Yes No Comparative Toxicogenomics Database:84706, Ensembl:ENSG00000166123, GenAtlas:GPT2, GeneCard:GPT2, HGNC:HGNC:18062, HumanCyc Gene:HS09332, ModBase:Q8TD30, NCBI Gene:84706, OMIM:138210, RefSeq DNA:NT_010498, RefSeq Protein:NP_001135938, RefSeq Protein:NP_597700, RefSeq RNA:NM_001142466, RefSeq RNA:NM_133443, UCSC Genome Browser:NM_133443, UniProtKB:Q8TD30 No chr16 46918308 46965201 46884380 46931297 +PA28949 2876 HGNC:4553 ENSG00000233276 glutathione peroxidase 1 GPX1 selenoprotein GPX1 Yes Yes Comparative Toxicogenomics Database:2876, Ensembl:ENSG00000233276, GenAtlas:GPX1, GeneCard:GPX1, HGNC:HGNC:4553, HumanCyc Gene:HS00019, NCBI Gene:2876, OMIM:138320, RefSeq DNA:NG_012264, RefSeq DNA:NT_022517, RefSeq Protein:NP_000572, RefSeq Protein:NP_958799, RefSeq RNA:NM_000581, RefSeq RNA:NM_201397, UCSC Genome Browser:NM_000581, UniProtKB:P07203 No chr3 49394609 49395791 49357176 49358358 +PA28957 2884 HGNC:4561 ENSG00000215326 glutathione peroxidase pseudogene 2 GPX1P2 GPXL2, GPXP2P Yes No Ensembl:ENSG00000215326, GenAtlas:GPXP2, GeneCard:GPX1P2, HGNC:HGNC:4561, NCBI Gene:2884, RefSeq DNA:NG_001134, RefSeq DNA:NT_011512 No chr21 28515442 28516318 27143123 27143999 +PA28950 2877 HGNC:4554 ENSG00000176153 glutathione peroxidase 2 GPX2 glutathione peroxidase 2 (gastrointestinal), selenoprotein GPX2 GSHPX-GI Yes No Comparative Toxicogenomics Database:2877, Ensembl:ENSG00000176153, GenAtlas:GPX2, GeneCard:GPX2, HGNC:HGNC:4554, HumanCyc Gene:HS11006, ModBase:P18283, NCBI Gene:2877, OMIM:138319, RefSeq DNA:NT_026437, RefSeq Protein:NP_002074, RefSeq RNA:NM_002083, UCSC Genome Browser:NM_002083, UniProtKB:P18283 No chr14 65405870 65409623 64939152 64942905 +PA28951 2878 HGNC:4555 ENSG00000211445 glutathione peroxidase 3 GPX3 glutathione peroxidase 3 (plasma), selenoprotein GPX3 Yes Yes Comparative Toxicogenomics Database:2878, Ensembl:ENSG00000211445, GenAtlas:GPX3, GeneCard:GPX3, HGNC:HGNC:4555, HumanCyc Gene:HS08224, ModBase:P22352, NCBI Gene:2878, OMIM:138321, RefSeq DNA:NT_029289, RefSeq Protein:NP_002075, RefSeq RNA:NM_002084, UCSC Genome Browser:NM_002084, UniProtKB:P22352 No chr5 150399999 150408554 151020438 151028993 +PA28952 2879 HGNC:4556 ENSG00000167468 glutathione peroxidase 4 GPX4 phospholipid hydroperoxidase, selenoprotein GPX4 MCSP, PHGPx Yes No Comparative Toxicogenomics Database:2879, Ensembl:ENSG00000167468, GenAtlas:GPX4, GeneCard:GPX4, HGNC:HGNC:4556, HumanCyc Gene:HS09562, ModBase:P36969, NCBI Gene:2879, OMIM:138322, RefSeq DNA:NT_011255, RefSeq Protein:NP_001034936, RefSeq Protein:NP_001034937, RefSeq Protein:NP_002076, RefSeq RNA:NM_001039847, RefSeq RNA:NM_001039848, RefSeq RNA:NM_002085, UCSC Genome Browser:NM_002085, UniProtKB:P36969 No chr19 1103936 1106787 1103926 1106789 +PA28953 2880 HGNC:4557 ENSG00000224586, ENSG00000226219 glutathione peroxidase 5 GPX5 epididymal androgen-related protein, glutathione peroxidase 5 (epididymal androgen-related protein) Yes Yes Comparative Toxicogenomics Database:2880, Ensembl:ENSG00000224586, Ensembl:ENSG00000226219, GenAtlas:GPX5, GeneCard:GPX5, HGNC:HGNC:4557, HumanCyc Gene:HS01336, ModBase:O75715, NCBI Gene:2880, OMIM:603435, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq Protein:NP_001500, RefSeq Protein:NP_003987, RefSeq RNA:NM_001509, RefSeq RNA:NM_003996, UCSC Genome Browser:NM_001509, UniProtKB:A1A4Y0, UniProtKB:O75715 No chr6 28493789 28502728 28526012 28534951 +PA28954 257202 HGNC:4558 ENSG00000198704 glutathione peroxidase 6 GPX6 glutathione peroxidase 6 (olfactory), selenoprotein GPX6 GPXP3 Yes No Comparative Toxicogenomics Database:257202, Ensembl:ENSG00000198704, GenAtlas:GPX6, GeneCard:GPX6, HGNC:HGNC:4558, ModBase:P59796, NCBI Gene:257202, OMIM:607913, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq Protein:NP_874360, RefSeq RNA:NM_182701, UniProtKB:P59796 No chr6 28471073 28483570 28503296 28515793 +PA28955 2882 HGNC:4559 ENSG00000116157 glutathione peroxidase 7 GPX7 FLJ14777, GPX6, NPGPx Yes No Ensembl:ENSG00000116157, GenAtlas:GPX7, GeneCard:GPX7, HGNC:HGNC:4559, ModBase:Q96SL4, NCBI Gene:2882, RefSeq DNA:NT_032977, RefSeq Protein:NP_056511, RefSeq RNA:NM_015696, UniProtKB:Q96SL4 No chr1 53068043 53074723 52602371 52609051 +PA164720300 493869 HGNC:33100 ENSG00000164294 glutathione peroxidase 8 (putative) GPX8 EPLA847, UNQ847 Yes No Ensembl:ENSG00000164294, GeneCard:GPX8, HGNC:HGNC:33100, ModBase:Q8TED1, NCBI Gene:493869, RefSeq DNA:NT_006713, RefSeq Protein:NP_001008398, RefSeq RNA:NM_001008397, UniProtKB:Q8TED1 No chr5 54455984 54463129 55160118 55167301 +PA134869487 57655 HGNC:29305 ENSG00000089351 GRAM domain containing 1A GRAMD1A Aster-A FLJ90346, KIAA1533 Yes No Comparative Toxicogenomics Database:57655, Ensembl:ENSG00000089351, GeneCard:GRAMD1A, HGNC:HGNC:29305, HumanCyc Gene:HS12322, ModBase:Q96CP6, NCBI Gene:57655, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129671, RefSeq Protein:NP_065946, RefSeq RNA:NM_001136199, RefSeq RNA:NM_020895, UniProtKB:Q96CP6 No chr19 35485688 35517375 34994784 35026471 +PA142671708 57476 HGNC:29214 ENSG00000023171 GRAM domain containing 1B GRAMD1B Aster-B KIAA1201, LINC01059 Yes Yes Comparative Toxicogenomics Database:57476, Ensembl:ENSG00000023171, GeneCard:GRAMD1B, HGNC:HGNC:29214, ModBase:Q3KR37, NCBI Gene:57476, RefSeq DNA:NT_033899, RefSeq Protein:NP_065767, RefSeq RNA:NM_020716, UniProtKB:B3KXJ5, UniProtKB:Q3KR37 No chr11 123325191 123498478 123358299 123627771 +PA142671709 54762 HGNC:25252 ENSG00000178075 GRAM domain containing 1C GRAMD1C Aster-C DKFZp434C0328 Yes No Ensembl:ENSG00000178075, GeneCard:GRAMD1C, HGNC:HGNC:25252, HumanCyc Gene:HS16981, NCBI Gene:54762, RefSeq DNA:NT_005612, RefSeq Protein:NP_001165576, RefSeq Protein:NP_060047, RefSeq RNA:NM_001172105, RefSeq RNA:NM_017577, UniProtKB:A8KA99, UniProtKB:Q8IYS0 No chr3 113557671 113666021 113828182 113947174 +PA142671710 196996 HGNC:27287 ENSG00000175318 GRAM domain containing 2A GRAMD2A GRAM domain containing 2 GRAMD2 Yes No Ensembl:ENSG00000175318, GeneCard:GRAMD2, HGNC:HGNC:27287, ModBase:Q8IUY3, NCBI Gene:196996, RefSeq DNA:NT_010194, RefSeq Protein:NP_001012660, RefSeq RNA:NM_001012642, UniProtKB:Q8IUY3 No chr15 72452147 72490136 72159806 72197814 +PA142671711 65983 HGNC:24911 ENSG00000155324 GRAM domain containing 2B GRAMD2B GRAM domain containing 3, HCV NS3 transactivated protein 2 FLJ21313, GRAMD3, NS3TP2 Yes No Comparative Toxicogenomics Database:65983, Ensembl:ENSG00000155324, GeneCard:GRAMD3, HGNC:HGNC:24911, HumanCyc Gene:HS14564, NCBI Gene:65983, RefSeq DNA:NT_034772, RefSeq Protein:NP_001139791, RefSeq Protein:NP_001139792, RefSeq Protein:NP_001139793, RefSeq Protein:NP_001139794, RefSeq Protein:NP_076416, RefSeq RNA:NM_001146319, RefSeq RNA:NM_001146320, RefSeq RNA:NM_001146321, RefSeq RNA:NM_001146322, RefSeq RNA:NM_023927, UniProtKB:B7Z1F2, UniProtKB:B7Z6D8, UniProtKB:B7Z8T2, UniProtKB:Q96HH9 No chr5 125695788 125829853 126360096 126494377 +PA162390212 23151 HGNC:29113 ENSG00000075240 GRAM domain containing 4 GRAMD4 death-inducing-protein DIP, KIAA0767 Yes No Comparative Toxicogenomics Database:23151, Ensembl:ENSG00000075240, GeneCard:GRAMD4, HGNC:HGNC:29113, ModBase:Q6IC98, NCBI Gene:23151, RefSeq DNA:NT_011520, RefSeq DNA:NT_011523, RefSeq Protein:NP_055939, RefSeq RNA:NM_015124, UniProtKB:Q6IC98 No chr22 46973124 47078652 46576017 46682755 +PA28958 10750 HGNC:4562 ENSG00000154016 GRB2 related adaptor protein GRAP GRB2-related adaptor protein Yes No Comparative Toxicogenomics Database:10750, Ensembl:ENSG00000154016, GenAtlas:GRAP, GeneCard:GRAP, HGNC:HGNC:4562, HumanCyc Gene:HS07941, ModBase:Q13588, NCBI Gene:10750, OMIM:604330, RefSeq DNA:NT_010718, RefSeq Protein:NP_006604, RefSeq RNA:NM_006613, UCSC Genome Browser:NM_006613, UniProtKB:Q13588 No chr17 18923969 18950336 19020656 19051352 +PA28959 9402 HGNC:4563 ENSG00000100351 GRB2 related adaptor protein 2 GRAP2 GRB2-related adaptor protein 2 GADS, GRBLG, GrbX, Grf40, Mona Yes No Comparative Toxicogenomics Database:9402, Ensembl:ENSG00000100351, GenAtlas:GRAP2, GeneCard:GRAP2, HGNC:HGNC:4563, HumanCyc Gene:HS02056, ModBase:O75791, NCBI Gene:9402, OMIM:604518, RefSeq DNA:NT_011520, RefSeq Protein:NP_004801, RefSeq RNA:NM_004810, UCSC Genome Browser:NM_004810, UniProtKB:O75791, UniProtKB:Q6FI14 No chr22 40297086 40369347 39901073 39973343 +PA165431929 400581 HGNC:37240 ENSG00000189152 GRB2 related adaptor protein like GRAPL GRB2-related adaptor protein-like GRAPLDR Yes No Ensembl:ENSG00000189152, GeneCard:GRAPL, HGNC:HGNC:37240, NCBI Gene:400581, RefSeq DNA:NT_010718, RefSeq Protein:NP_001123250, RefSeq RNA:NM_001129778, UniProtKB:Q8TC17 No chr17 19030782 19062148 19123188 19159187 +PA28960 2887 HGNC:4564 ENSG00000106070 growth factor receptor bound protein 10 GRB10 growth factor receptor-bound protein 10 Yes No Comparative Toxicogenomics Database:2887, Ensembl:ENSG00000106070, GenAtlas:GRB10, GeneCard:GRB10, HGNC:HGNC:4564, HumanCyc Gene:HS02858, ModBase:Q13322, NCBI Gene:2887, OMIM:601523, RefSeq DNA:NG_012305, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_001001549, RefSeq Protein:NP_001001550, RefSeq Protein:NP_001001555, RefSeq Protein:NP_005302, RefSeq RNA:NM_001001549, RefSeq RNA:NM_001001550, RefSeq RNA:NM_001001555, RefSeq RNA:NM_005311, UCSC Genome Browser:NM_005311, UniProtKB:Q13322 No chr7 50657760 50861159 50590063 50793462 +PA28961 2888 HGNC:4565 ENSG00000115290 growth factor receptor bound protein 14 GRB14 growth factor receptor-bound protein 14 Yes No Comparative Toxicogenomics Database:2888, Ensembl:ENSG00000115290, GenAtlas:GRB14, GeneCard:GRB14, HGNC:HGNC:4565, HumanCyc Gene:HS03865, ModBase:Q14449, NCBI Gene:2888, OMIM:601524, RefSeq DNA:NT_005403, RefSeq Protein:NP_004481, RefSeq RNA:NM_004490, UCSC Genome Browser:NM_004490, UniProtKB:Q14449 No chr2 165349323 165478360 164492406 164621850 +PA28962 2885 HGNC:4566 ENSG00000177885 growth factor receptor bound protein 2 GRB2 growth factor receptor-bound protein 2 NCKAP2 Yes No Comparative Toxicogenomics Database:2885, Ensembl:ENSG00000177885, GenAtlas:GRB2, GeneCard:GRB2, HGNC:HGNC:4566, HumanCyc Gene:HS05748, ModBase:P62993, NCBI Gene:2885, OMIM:108355, RefSeq DNA:NT_010783, RefSeq Protein:NP_002077, RefSeq Protein:NP_987102, RefSeq RNA:NM_002086, RefSeq RNA:NM_203506, UCSC Genome Browser:NM_002086, UniProtKB:B0LPF3, UniProtKB:P62993 No chr17 73314157 73401790 75318076 75405709 +PA28963 2886 HGNC:4567 ENSG00000141738 growth factor receptor bound protein 7 GRB7 growth factor receptor-bound protein 7 Yes No Comparative Toxicogenomics Database:2886, Ensembl:ENSG00000141738, GenAtlas:GRB7, GeneCard:GRB7, HGNC:HGNC:4567, HumanCyc Gene:HS06867, ModBase:Q14451, NCBI Gene:2886, OMIM:601522, RefSeq DNA:NT_010783, RefSeq Protein:NP_001025173, RefSeq Protein:NP_001229371, RefSeq Protein:NP_001229372, RefSeq Protein:NP_005301, RefSeq RNA:NM_001030002, RefSeq RNA:NM_001242442, RefSeq RNA:NM_001242443, RefSeq RNA:NM_005310, UCSC Genome Browser:NM_005310, UniProtKB:Q14451, UniProtKB:Q53YD3 No chr17 37894162 37903538 39737909 39747285 +PA164747489 9687 HGNC:24885 ENSG00000196208 growth regulating estrogen receptor binding 1 GREB1 gene regulated by estrogen in breast cancer, growth regulation by estrogen in breast cancer 1 KIAA0575 Yes No Ensembl:ENSG00000196208, GeneCard:GREB1, HGNC:HGNC:24885, ModBase:Q4ZG55, NCBI Gene:9687, OMIM:611736, RefSeq DNA:NT_005334, RefSeq Protein:NP_055483, RefSeq Protein:NP_149081, RefSeq Protein:NP_683701, RefSeq RNA:NM_014668, RefSeq RNA:NM_033090, RefSeq RNA:NM_148903, UniProtKB:Q4ZG55 No chr2 11674242 11782914 11534116 11642788 +PA165429012 80000 HGNC:31042 ENSG00000141449 GREB1 like retinoic acid receptor coactivator GREB1L growth regulation by estrogen in breast cancer-like C18orf6, FLJ13687, KIAA1772 Yes No Ensembl:ENSG00000141449, GeneCard:GREB1L, HGNC:HGNC:31042, HumanCyc Gene:HS06831, NCBI Gene:80000, RefSeq DNA:NT_010966, RefSeq Protein:NP_001136438, RefSeq RNA:NM_001142966, RefSeq RNA:NM_024935, RefSeq RNA:XR_040952, RefSeq RNA:XR_040953, RefSeq RNA:XR_040954, UniProtKB:B4DDS9, UniProtKB:Q9C091 No chr18 18822203 19105384 21242225 21526273 +PA26537 26585 HGNC:2001, HGNC:20574 ENSG00000166923 gremlin 1, DAN family BMP antagonist GREM1 down-regulated in mos-transformed cells, hereditary mixed polyposis syndrome CKTSF1B1, CRAC1, DAND2, DRM, HMPS, gremlin Yes No Comparative Toxicogenomics Database:26585, Comparative Toxicogenomics Database:338377, Ensembl:ENSG00000166923, GenAtlas:GREM1, GeneCard:CRAC1, GeneCard:GREM1, HGNC:HGNC:2001, HGNC:HGNC:20574, HumanCyc Gene:HS09481, ModBase:O60565, NCBI Gene:26585, OMIM:601228, OMIM:603054, RefSeq DNA:NT_010194, RefSeq Protein:NP_001178251, RefSeq Protein:NP_001178252, RefSeq Protein:NP_037504, RefSeq RNA:NM_001191322, RefSeq RNA:NM_001191323, RefSeq RNA:NM_013372, UCSC Genome Browser:NM_013372, UniProtKB:A6XAA7, UniProtKB:O60565 No chr15 33010175 33026870 32717940 32734669 +PA134968998 64388 HGNC:17655 ENSG00000180875 gremlin 2, DAN family BMP antagonist GREM2 protein related to DAN and cerberus CKTSF1B2, DAND3, FLJ21195, Prdc Yes Yes Comparative Toxicogenomics Database:64388, Ensembl:ENSG00000180875, GeneCard:GREM2, HGNC:HGNC:17655, HumanCyc Gene:HS17584, ModBase:Q9H772, NCBI Gene:64388, OMIM:608832, RefSeq DNA:NT_167186, RefSeq Protein:NP_071914, RefSeq RNA:NM_022469, UniProtKB:Q9H772 No chr1 240652873 240775462 240489573 240612372 +PA166351829 283875 HGNC:27549 glycine rich extracellular protein 1 GREP1 glycine-rich extracellular protein 1 G029442, LINC00514 Yes No HGNC:HGNC:27549, NCBI Gene:283875 No 0 0 0 0 +PA134971477 29841 HGNC:17923 ENSG00000134317 grainyhead like transcription factor 1 GRHL1 grainyhead-like 1 (Drosophila), mammalian grainyhead LBP-32, MGR, TFCP2L2 Yes No Comparative Toxicogenomics Database:29841, Ensembl:ENSG00000134317, GeneCard:GRHL1, HGNC:HGNC:17923, HumanCyc Gene:HS13521, ModBase:Q9NZI5, NCBI Gene:29841, OMIM:609786, RefSeq DNA:NT_005334, RefSeq Protein:NP_055367, RefSeq Protein:NP_937825, RefSeq RNA:NM_014552, RefSeq RNA:NM_198182, UniProtKB:Q9NZI5 No chr2 10091792 10142412 9951663 10002284 +PA27270 79977 HGNC:2799 ENSG00000083307 grainyhead like transcription factor 2 GRHL2 brother-of-MGR, grainyhead-like 2 (Drosophila) BOM, DFNA28, FLJ13782, TFCP2L3 Yes No Comparative Toxicogenomics Database:79977, Ensembl:ENSG00000083307, GenAtlas:GRHL2, GeneCard:GRHL2, HGNC:HGNC:2799, HumanCyc Gene:HS12277, NCBI Gene:79977, OMIM:608576, OMIM:608641, RefSeq DNA:NG_011971, RefSeq DNA:NT_008046, RefSeq Protein:NP_079191, RefSeq RNA:NM_024915, UniProtKB:Q6ISB3 No chr8 102504668 102681954 101492440 101678105 +PA134987320 57822 HGNC:25839 ENSG00000158055 grainyhead like transcription factor 3 GRHL3 grainyhead-like 3 (Drosophila), sister-of-mammalian grainyhead SOM, TFCP2L4 Yes No Comparative Toxicogenomics Database:57822, Ensembl:ENSG00000158055, GeneCard:GRHL3, HGNC:HGNC:25839, HumanCyc Gene:HS14693, NCBI Gene:57822, OMIM:608317, RefSeq DNA:NG_009308, RefSeq DNA:NT_004610, RefSeq Protein:NP_001181939, RefSeq Protein:NP_067003, RefSeq Protein:NP_937816, RefSeq Protein:NP_937817, RefSeq RNA:NM_001195010, RefSeq RNA:NM_021180, RefSeq RNA:NM_198173, RefSeq RNA:NM_198174, UniProtKB:Q8TE85 No chr1 24645812 24690972 24319322 24364482 +PA28965 9380 HGNC:4570 ENSG00000137106 glyoxylate and hydroxypyruvate reductase GRHPR glyoxylate reductase/hydroxypyruvate reductase, primary hyperoxaluria type 2 GLXR, GLYD, PH2 Yes No Comparative Toxicogenomics Database:9380, Ensembl:ENSG00000137106, GenAtlas:GRHPR, GeneCard:GRHPR, HGNC:HGNC:4570, HumanCyc Gene:HS06275, ModBase:Q9UBQ7, NCBI Gene:9380, OMIM:260000, OMIM:604296, RefSeq DNA:NG_008135, RefSeq DNA:NT_008413, RefSeq Protein:NP_036335, RefSeq RNA:NM_012203, UCSC Genome Browser:NM_012203, UniProtKB:Q5T945, UniProtKB:Q9UBQ7 No chr9 37422693 37436990 37422666 37437782 +PA28966 2890 HGNC:4571 ENSG00000155511 glutamate ionotropic receptor AMPA type subunit 1 GRIA1 """AMPA receptor subunit GluA1"", ""Glutamate receptor 1"", ""glutamate receptor, ionotropic, AMPA 1""" GLUR1, GLURA, GluA1 Yes Yes Comparative Toxicogenomics Database:2890, Ensembl:ENSG00000155511, GenAtlas:GRIA1, GeneCard:GRIA1, HGNC:HGNC:4571, HumanCyc Gene:HS08057, ModBase:P42261, NCBI Gene:2890, OMIM:138248, RefSeq DNA:NT_029289, RefSeq Protein:NP_000818, RefSeq Protein:NP_001107655, RefSeq RNA:NM_000827, RefSeq RNA:NM_001114183, UCSC Genome Browser:NM_000827, UniProtKB:P42261, UniProtKB:Q59GL5 No chr5 152870084 153193429 153489615 153813873 +PA28967 2891 HGNC:4572 ENSG00000120251 glutamate ionotropic receptor AMPA type subunit 2 GRIA2 """AMPA receptor subunit GluA2"", ""Glutamate receptor 2"", ""glutamate receptor, ionotropic, AMPA 2""" GLUR2, GLURB, GluA2, GluR-2, GluR-B, GluR-K2 Yes No Comparative Toxicogenomics Database:2891, Ensembl:ENSG00000120251, GenAtlas:GRIA2, GeneCard:GRIA2, HGNC:HGNC:4572, HumanCyc Gene:HS04382, ModBase:P42262, NCBI Gene:2891, OMIM:138247, RefSeq DNA:NT_016354, RefSeq Protein:NP_000817, RefSeq Protein:NP_001077088, RefSeq Protein:NP_001077089, RefSeq RNA:NM_000826, RefSeq RNA:NM_001083619, RefSeq RNA:NM_001083620, UCSC Genome Browser:NM_000826, UniProtKB:P42262 No chr4 158141736 158287227 157205099 157370583 +PA28968 2892 HGNC:4573 ENSG00000125675 glutamate ionotropic receptor AMPA type subunit 3 GRIA3 """AMPA receptor subunit GluA3"", ""Glutamate receptor 3"", ""glutamate receptor, ionotropic, AMPA 3""" GLUR3, GLURC, GluA3, GluR-3, GluR-C, GluR-K3, MRX94, iGluR3 Yes Yes Comparative Toxicogenomics Database:2892, Ensembl:ENSG00000125675, GenAtlas:GRIA3, GeneCard:GRIA3, HGNC:HGNC:4573, HumanCyc Gene:HS04913, ModBase:P42263, NCBI Gene:2892, OMIM:300699, OMIM:305915, RefSeq DNA:NG_009377, RefSeq DNA:NT_011786, RefSeq Protein:NP_000819, RefSeq Protein:NP_015564, RefSeq RNA:NM_000828, RefSeq RNA:NM_007325, UCSC Genome Browser:NM_000828, UniProtKB:P42263, UniProtKB:Q17R51 No chrX 122317996 122624766 123184243 123490915 +PA28969 2893 HGNC:4574 ENSG00000152578 glutamate ionotropic receptor AMPA type subunit 4 GRIA4 """Glutamate receptor 4"", ""glutamate receptor, ionotropic, AMPA 4""" GLUR4, GLUR4C, GLURD, GluA4, GluR-4, GluR-D Yes No Comparative Toxicogenomics Database:2893, Ensembl:ENSG00000152578, GenAtlas:GRIA4, GeneCard:GRIA4, HGNC:HGNC:4574, HumanCyc Gene:HS07834, ModBase:P48058, NCBI Gene:2893, OMIM:138246, RefSeq DNA:NT_033899, RefSeq Protein:NP_000820, RefSeq Protein:NP_001070711, RefSeq Protein:NP_001070712, RefSeq Protein:NP_001106283, RefSeq RNA:NM_000829, RefSeq RNA:NM_001077243, RefSeq RNA:NM_001077244, RefSeq RNA:NM_001112812, UCSC Genome Browser:NM_000829, UniProtKB:P48058, UniProtKB:Q1WWK6, UniProtKB:Q86XE8 No chr11 105480800 105852819 105609994 105982092 +PA28970 2894 HGNC:4575 ENSG00000182771 glutamate ionotropic receptor delta type subunit 1 GRID1 glutamate receptor, ionotropic, delta 1 GluD1, KIAA1220 Yes No Comparative Toxicogenomics Database:2894, Ensembl:ENSG00000182771, GenAtlas:GRID1, GeneCard:GRID1, HGNC:HGNC:4575, ModBase:Q9ULK0, NCBI Gene:2894, OMIM:610659, RefSeq DNA:NG_011875, RefSeq DNA:NT_030059, RefSeq Protein:NP_060021, RefSeq RNA:NM_017551, UniProtKB:A8KAN9, UniProtKB:Q9ULK0 No chr10 87359312 88126250 85599555 86366493 +PA28971 2895 HGNC:4576 ENSG00000152208 glutamate ionotropic receptor delta type subunit 2 GRID2 glutamate receptor, ionotropic, delta 2 GluD2, GluR-delta-2 Yes Yes Ensembl:ENSG00000152208, GenAtlas:GRID2, GeneCard:GRID2, HGNC:HGNC:4576, ModBase:O43424, NCBI Gene:2895, OMIM:602368, RefSeq DNA:NT_016354, RefSeq Protein:NP_001501, RefSeq RNA:NM_001510, UCSC Genome Browser:NM_001510, UniProtKB:O43424 No chr4 93225453 94695707 92304249 93810330 +PA134951825 392862 HGNC:18464 ENSG00000215045 Grid2 interacting protein GRID2IP """delphilin"", ""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein""" Yes No Ensembl:ENSG00000215045, GeneCard:GRID2IP, HGNC:HGNC:18464, NCBI Gene:392862, OMIM:610639, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001138590, RefSeq RNA:NM_001145118, UniProtKB:A4D2P6 No chr7 6536409 6591067 6496778 6551436 +PA28972 402635 HGNC:4577 ENSG00000275572 galectin-related inter-fiber protein GRIFIN Yes No Ensembl:ENSG00000275572, GenAtlas:GRIFIN, GeneCard:GRIFIN, HGNC:HGNC:4577, NCBI Gene:402635, RefSeq DNA:NG_008109, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001093412, RefSeq RNA:NM_001099942 No chr7 2514772 2516489 2473576 2476855 +PA28973 2897 HGNC:4579 ENSG00000171189 glutamate ionotropic receptor kainate type subunit 1 GRIK1 glutamate receptor, ionotropic, kainate 1 GLUR5, GluK1 Yes Yes Ensembl:ENSG00000171189, GenAtlas:GRIK1, GeneCard:GRIK1, HGNC:HGNC:4579, HumanCyc Gene:HS10262, ModBase:P39086, NCBI Gene:2897, OMIM:138245, RefSeq DNA:NT_011512, RefSeq Protein:NP_000821, RefSeq Protein:NP_783300, RefSeq RNA:NM_000830, RefSeq RNA:NM_175611, UCSC Genome Browser:NM_000830, UniProtKB:P39086 No chr21 30909254 31312282 29536933 29940052 +PA165378418 642976 HGNC:16458 ENSG00000174680 GRIK1 antisense RNA 1 GRIK1-AS1 Yes No Ensembl:ENSG00000174680, GeneCard:GRIK1AS, HGNC:HGNC:16458, NCBI Gene:642976, RefSeq DNA:NT_011512, RefSeq RNA:NR_027021, RefSeq RNA:XR_041044, RefSeq RNA:XR_041045, RefSeq RNA:XR_041046 No chr21 31120494 31136325 29748175 29764006 +PA165378440 100379661 HGNC:1282 GRIK1 antisense RNA 2 GRIK1-AS2 Yes Yes GeneCard:GRIK1-AS2, HGNC:HGNC:1282, NCBI Gene:100379661, RefSeq RNA:NR_033368 No chr21 30968360 31003067 29596040 29630747 +PA164741600 2898 HGNC:4580 ENSG00000164418 glutamate ionotropic receptor kainate type subunit 2 GRIK2 """excitatory amino acid receptor 4‘"", ""excitatory amino acid receptor 4‘"", ""glutamate receptor, ionotropic, kainate 2""" EAA4, GLUK6, GLUR6, GluK2, GluR-6, MRT6 Yes Yes Ensembl:ENSG00000164418, GeneCard:GRIK2, HGNC:HGNC:4580, ModBase:Q13002, NCBI Gene:2898, OMIM:138244, OMIM:611092, RefSeq DNA:NG_009224, RefSeq DNA:NT_025741, RefSeq Protein:NP_001159719, RefSeq Protein:NP_068775, RefSeq Protein:NP_786944, RefSeq RNA:NM_001166247, RefSeq RNA:NM_021956, RefSeq RNA:NM_175768, UniProtKB:A8K0H7, UniProtKB:Q13002, UniProtKB:Q8IY40 No chr6 101841584 102517958 101393708 102070083 +PA28975 2899 HGNC:4581 ENSG00000163873 glutamate ionotropic receptor kainate type subunit 3 GRIK3 glutamate receptor, ionotropic, kainate 3 GLUR7, GluK3 Yes Yes Comparative Toxicogenomics Database:2899, Ensembl:ENSG00000163873, GenAtlas:GRIK3, GeneCard:GRIK3, HGNC:HGNC:4581, HumanCyc Gene:HS08957, ModBase:Q13003, NCBI Gene:2899, OMIM:138243, RefSeq DNA:NG_011447, RefSeq DNA:NT_032977, RefSeq Protein:NP_000822, RefSeq RNA:NM_000831, UCSC Genome Browser:NM_000831, UniProtKB:A9Z1Z8, UniProtKB:Q13003 No chr1 37261128 37499844 36795527 37034243 +PA28976 2900 HGNC:4582 ENSG00000149403 glutamate ionotropic receptor kainate type subunit 4 GRIK4 glutamate receptor, ionotropic, kainate 4 GRIK, GluK4, KA1 Yes Yes Ensembl:ENSG00000149403, GenAtlas:GRIK4, GeneCard:GRIK4, HGNC:HGNC:4582, HumanCyc Gene:HS07608, ModBase:Q16099, NCBI Gene:2900, OMIM:600282, RefSeq DNA:NT_033899, RefSeq Protein:NP_055434, RefSeq RNA:NM_014619, UCSC Genome Browser:NM_014619, UniProtKB:Q16099 No chr11 120382465 120859514 120511746 120988805 +PA28977 2901 HGNC:4583 ENSG00000105737 glutamate ionotropic receptor kainate type subunit 5 GRIK5 glutamate receptor, ionotropic, kainate 5 GRIK2, GluK5, KA2 Yes No Comparative Toxicogenomics Database:2901, Ensembl:ENSG00000105737, GenAtlas:GRIK5, GeneCard:GRIK5, HGNC:HGNC:4583, HumanCyc Gene:HS02808, ModBase:Q16478, NCBI Gene:2901, OMIM:600283, RefSeq DNA:NT_011109, RefSeq Protein:NP_002079, RefSeq RNA:NM_002088, UCSC Genome Browser:NM_002088, UniProtKB:Q16478 No chr19 42502468 42574278 41998316 42071804 +PA28978 2902 HGNC:4584 ENSG00000176884 glutamate ionotropic receptor NMDA type subunit 1 GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 GluN1, NMDAR1, NR1 Yes Yes Comparative Toxicogenomics Database:2902, Ensembl:ENSG00000176884, GenAtlas:GRIN1, GeneCard:GRIN1, HGNC:HGNC:4584, HumanCyc Gene:HS11094, ModBase:Q5VSF7, NCBI Gene:2902, OMIM:138249, RefSeq DNA:NG_011507, RefSeq DNA:NT_024000, RefSeq Protein:NP_000823, RefSeq Protein:NP_001172019, RefSeq Protein:NP_001172020, RefSeq Protein:NP_015566, RefSeq Protein:NP_067544, RefSeq RNA:NM_000832, RefSeq RNA:NM_001185090, RefSeq RNA:NM_001185091, RefSeq RNA:NM_007327, RefSeq RNA:NM_021569, UCSC Genome Browser:NM_000832, UniProtKB:Q05586, UniProtKB:Q5VSF4, UniProtKB:Q5VSF5 No chr9 140033609 140063214 137139092 137168762 +PA28979 2903 HGNC:4585 ENSG00000183454 glutamate ionotropic receptor NMDA type subunit 2A GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A GluN2A, NMDAR2A, NR2A Yes Yes Comparative Toxicogenomics Database:2903, Ensembl:ENSG00000183454, GenAtlas:GRIN2A, GeneCard:GRIN2A, HGNC:HGNC:4585, ModBase:Q12879, NCBI Gene:2903, OMIM:138253, RefSeq DNA:NG_011812, RefSeq DNA:NT_010393, RefSeq Protein:NP_000824, RefSeq Protein:NP_001127879, RefSeq Protein:NP_001127880, RefSeq RNA:NM_000833, RefSeq RNA:NM_001134407, RefSeq RNA:NM_001134408, UCSC Genome Browser:NM_000833, UniProtKB:B4DII7, UniProtKB:Q12879, UniProtKB:Q17RZ6, UniProtKB:Q547U9, UniProtKB:Q59EW6 No chr16 9847265 10276611 9753404 10183364 +PA28980 2904 HGNC:4586 ENSG00000273079 glutamate ionotropic receptor NMDA type subunit 2B GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B GluN2B, NMDAR2B, NR2B Yes Yes Comparative Toxicogenomics Database:2904, Ensembl:ENSG00000273079, GenAtlas:GRIN2B, GeneCard:GRIN2B, HGNC:HGNC:4586, HumanCyc Gene:HS07657, ModBase:Q13224, NCBI Gene:2904, OMIM:138252, RefSeq DNA:NT_009714, RefSeq Protein:NP_000825, RefSeq RNA:NM_000834, UCSC Genome Browser:NM_000834, UniProtKB:Q13224 No chr12 13713684 14133022 13537337 13982012 +PA28981 2905 HGNC:4587 ENSG00000161509 glutamate ionotropic receptor NMDA type subunit 2C GRIN2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C GluN2C, NMDAR2C, NR2C Yes No Comparative Toxicogenomics Database:2905, Ensembl:ENSG00000161509, GenAtlas:GRIN2C, GeneCard:GRIN2C, HGNC:HGNC:4587, HumanCyc Gene:HS08586, NCBI Gene:2905, OMIM:138254, RefSeq DNA:NT_010783, RefSeq Protein:NP_000826, RefSeq RNA:NM_000835, UCSC Genome Browser:NM_000835, UniProtKB:O15398, UniProtKB:Q14957 No chr17 72838162 72856966 74842021 74860843 +PA28982 2906 HGNC:4588 ENSG00000105464 glutamate ionotropic receptor NMDA type subunit 2D GRIN2D """N-methyl-d-aspartate receptor subunit 2D"", ""glutamate receptor, ionotropic, N-methyl D-aspartate 2D""" EB11, GluN2D, NMDAR2D, NR2D Yes No Comparative Toxicogenomics Database:2906, Ensembl:ENSG00000105464, GenAtlas:GRIN2D, GeneCard:GRIN2D, HGNC:HGNC:4588, HumanCyc Gene:HS02743, ModBase:O15399, NCBI Gene:2906, OMIM:602717, RefSeq DNA:NT_011109, RefSeq Protein:NP_000827, RefSeq RNA:NM_000836, UCSC Genome Browser:NM_000836, UniProtKB:O15399, UniProtKB:Q59G17 No chr19 48898132 48948188 48394875 48444937 +PA28983 116443 HGNC:16767 ENSG00000198785 glutamate ionotropic receptor NMDA type subunit 3A GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A GluN3A Yes Yes Ensembl:ENSG00000198785, GenAtlas:GRIN3A, GeneCard:GRIN3A, HGNC:HGNC:16767, ModBase:Q8TCU5, NCBI Gene:116443, OMIM:606650, RefSeq DNA:NT_008470, RefSeq Protein:NP_597702, RefSeq RNA:NM_133445, UCSC Genome Browser:NM_133445, UniProtKB:Q8TCU5 No chr9 104331634 104500862 101569352 101738580 +PA28984 116444 HGNC:16768 ENSG00000116032 glutamate ionotropic receptor NMDA type subunit 3B GRIN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B GluN3B Yes Yes Comparative Toxicogenomics Database:116444, Ensembl:ENSG00000116032, GenAtlas:GRIN3B, GeneCard:GRIN3B, HGNC:HGNC:16768, HumanCyc Gene:HS03973, ModBase:O60391, NCBI Gene:116444, OMIM:606651, RefSeq DNA:NT_011255, RefSeq Protein:NP_619635, RefSeq RNA:NM_138690, UniProtKB:O60391 No chr19 1000437 1009723 1000419 1009814 +PA28985 2907 HGNC:4589 ENSG00000178719 glutamate ionotropic receptor NMDA type subunit associated protein 1 GRINA """glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)"", ""lifeguard 1"", ""transmembrane BAX inhibitor motif containing 3""" HNRGW, LFG1, NMDARA1, TMBIM3 Yes No Comparative Toxicogenomics Database:2907, Ensembl:ENSG00000178719, GenAtlas:GRINA, GeneCard:GRINA, HGNC:HGNC:4589, HumanCyc Gene:HS11309, ModBase:Q7Z429, NCBI Gene:2907, OMIM:138251, RefSeq DNA:NT_008046, RefSeq Protein:NP_000828, RefSeq Protein:NP_001009184, RefSeq RNA:NM_000837, RefSeq RNA:NM_001009184, UniProtKB:Q7Z429 No chr8 145064226 145067596 143990058 143993415 +PA38652 23426 HGNC:18708 ENSG00000155974 glutamate receptor interacting protein 1 GRIP1 Yes No Ensembl:ENSG00000155974, GenAtlas:GRIP1, GeneCard:GRIP1, HGNC:HGNC:18708, ModBase:Q9Y3R0, NCBI Gene:23426, OMIM:604597, RefSeq DNA:NG_021400, RefSeq DNA:NT_029419, RefSeq Protein:NP_001171545, RefSeq Protein:NP_066973, RefSeq RNA:NM_001178074, RefSeq RNA:NM_021150 No chr12 66741178 67463014 66347431 67069265 +PA134986170 80852 HGNC:23841 ENSG00000144596 glutamate receptor interacting protein 2 GRIP2 KIAA1719 Yes No Ensembl:ENSG00000144596, GeneCard:GRIP2, HGNC:HGNC:23841, ModBase:Q9C0E4, NCBI Gene:80852, RefSeq DNA:NT_022517, RefSeq Protein:NP_001073892, RefSeq RNA:NM_001080423 No chr3 14530396 14583588 14489111 14602996 +PA38650 56850 HGNC:18706 ENSG00000068400 GRIP1 associated protein 1 GRIPAP1 DKFZp434P0630, GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3 Yes No Ensembl:ENSG00000068400, GenAtlas:GRIPAP1, GeneCard:GRIPAP1, HGNC:HGNC:18706, HumanCyc Gene:HS12193, ModBase:Q9NQ43, NCBI Gene:56850, OMIM:300408, RefSeq DNA:NG_016263, RefSeq DNA:NT_079573, RefSeq Protein:NP_064522, RefSeq Protein:NP_997555, RefSeq RNA:NM_020137, RefSeq RNA:NM_207672, UCSC Genome Browser:NM_020137, UniProtKB:Q4V328 No chrX 48830130 48858675 48973720 49002264 +PA34391 6011 HGNC:10013 ENSG00000185974 G protein-coupled receptor kinase 1 GRK1 GPRK1, RHOK, RK Yes No Comparative Toxicogenomics Database:6011, Ensembl:ENSG00000185974, GenAtlas:GRK1, GeneCard:GRK1, HGNC:HGNC:10013, HumanCyc Gene:HS00048, ModBase:Q15835, NCBI Gene:6011, OMIM:180381, OMIM:258100, OMIM:613411, RefSeq DNA:NT_027140, RefSeq DNA:NT_077627, RefSeq Protein:NP_002920, RefSeq RNA:NM_002929, UCSC Genome Browser:NM_002929, UniProtKB:Q15835 No chr13 +PA40 156 HGNC:289 ENSG00000173020 G protein-coupled receptor kinase 2 GRK2 adrenergic, beta, receptor kinase 1 ADRBK1, BARK1, GRK2 Yes No Comparative Toxicogenomics Database:156, Ensembl:ENSG00000173020, GenAtlas:ADRBK1, GeneCard:ADRBK1, HGNC:HGNC:289, HumanCyc Gene:HS10607, ModBase:P25098, NCBI Gene:156, OMIM:109635, RefSeq DNA:NT_167190, RefSeq Protein:NP_001610, RefSeq RNA:NM_001619, UCSC Genome Browser:NM_001619, UniProtKB:P25098 No chr11 67033905 67054029 67266420 67286558 +PA41 157 HGNC:290 ENSG00000100077 G protein-coupled receptor kinase 3 GRK3 adrenergic, beta, receptor kinase 2 ADRBK2, BARK2, GRK3 Yes Yes Comparative Toxicogenomics Database:157, Ensembl:ENSG00000100077, GenAtlas:ADRBK2, GeneCard:ADRBK2, HGNC:HGNC:290, HumanCyc Gene:HS01969, ModBase:P35626, NCBI Gene:157, OMIM:109636, RefSeq DNA:NT_011520, RefSeq Protein:NP_005151, RefSeq RNA:NM_005160, UCSC Genome Browser:NM_005160, UniProtKB:P35626, UniProtKB:Q8N433 No chr22 25960861 26125259 25564894 25729294 +PA28941 2868 HGNC:4543 ENSG00000125388 G protein-coupled receptor kinase 4 GRK4 GPRK2L, GPRK4 Yes Yes Comparative Toxicogenomics Database:2868, Ensembl:ENSG00000125388, GenAtlas:GRK4, GeneCard:GRK4, HGNC:HGNC:4543, HumanCyc Gene:HS04880, ModBase:Q15313, NCBI Gene:2868, OMIM:137026, RefSeq DNA:NT_006051, RefSeq Protein:NP_001004056, RefSeq Protein:NP_001004057, RefSeq Protein:NP_892027, RefSeq RNA:NM_001004056, RefSeq RNA:NM_001004057, RefSeq RNA:NM_182982, UCSC Genome Browser:NM_005307, UniProtKB:P32298 Yes chr4 2965232 3042474 2963504 3040760 +PA180 2869 HGNC:4544 ENSG00000198873 G protein-coupled receptor kinase 5 GRK5 GPRK5 Yes Yes Comparative Toxicogenomics Database:2869, Ensembl:ENSG00000198873, GenAtlas:GRK5, GeneCard:GRK5, HGNC:HGNC:4544, HumanCyc Gene:HS01823, ModBase:P34947, NCBI Gene:2869, OMIM:600870, RefSeq DNA:NT_030059, RefSeq Protein:NP_005299, RefSeq RNA:NM_005308, UCSC Genome Browser:NM_005308, UniProtKB:P34947 Yes chr10 120967197 121215131 119207685 119455619 +PA28942 2870 HGNC:4545 ENSG00000198055 G protein-coupled receptor kinase 6 GRK6 GPRK6 Yes No Comparative Toxicogenomics Database:2870, Ensembl:ENSG00000198055, GenAtlas:GRK6, GeneCard:GRK6, HGNC:HGNC:4545, HumanCyc Gene:HS00600, ModBase:P43250, NCBI Gene:2870, OMIM:600869, RefSeq DNA:NT_023133, RefSeq Protein:NP_001004105, RefSeq Protein:NP_001004106, RefSeq Protein:NP_002073, RefSeq RNA:NM_001004105, RefSeq RNA:NM_001004106, RefSeq RNA:NM_002082, UCSC Genome Browser:NM_002082, UniProtKB:P43250 No chr5 176853687 176869850 177426496 177442849 +PA28943 2871 HGNC:4547 ENSG00000215571 G protein-coupled receptor kinase 6 pseudogene 1 GRK6P1 Yes No Ensembl:ENSG00000215571, GenAtlas:GRK6PS, GeneCard:GRK6P1, HGNC:HGNC:4547, NCBI Gene:2871, RefSeq DNA:NG_001133, RefSeq DNA:NT_024524 No chr13 21893166 21894965 21319027 21320826 +PA38433 131890 HGNC:17031 ENSG00000114124 G protein-coupled receptor kinase 7 GRK7 GPRK7 Yes No Ensembl:ENSG00000114124, GenAtlas:GRK7, GeneCard:GRK7, HGNC:HGNC:17031, HumanCyc Gene:HS03742, ModBase:Q8WTQ7, NCBI Gene:131890, OMIM:606987, RefSeq DNA:NT_005612, RefSeq Protein:NP_631948, RefSeq RNA:NM_139209, UCSC Genome Browser:NM_139209, UniProtKB:Q8WTQ7 No chr3 141497043 141535892 141763127 141817373 +PA28990 2911 HGNC:4593 ENSG00000152822 glutamate metabotropic receptor 1 GRM1 """glutamate receptor, metabotropic 1"", ""protein phosphatase 1, regulatory subunit 85""" GPRC1A, MGLUR1, PPP1R85, mGlu1 Yes No Comparative Toxicogenomics Database:2911, Ensembl:ENSG00000152822, GenAtlas:GRM1, GeneCard:GRM1, HGNC:HGNC:4593, HumanCyc Gene:HS07857, IUPHAR Receptor:289, ModBase:Q9UGT0, NCBI Gene:2911, OMIM:604473, RefSeq DNA:NG_012839, RefSeq DNA:NT_025741, RefSeq Protein:NP_000829, RefSeq Protein:NP_001107801, RefSeq RNA:NM_000838, RefSeq RNA:NM_001114329, UCSC Genome Browser:NM_000838, UniProtKB:Q13255, UniProtKB:Q59HC2 No chr6 146286032 146758782 146027634 146437598 +PA28991 2912 HGNC:4594 ENSG00000164082 glutamate metabotropic receptor 2 GRM2 glutamate receptor, metabotropic 2 GPRC1B, MGLUR2, mGlu2 Yes No Comparative Toxicogenomics Database:2912, Ensembl:ENSG00000164082, GenAtlas:GRM2, GeneCard:GRM2, HGNC:HGNC:4594, HumanCyc Gene:HS09005, IUPHAR Receptor:290, ModBase:Q14416, NCBI Gene:2912, OMIM:604099, RefSeq DNA:NT_022517, RefSeq Protein:NP_000830, RefSeq Protein:NP_001123535, RefSeq RNA:NM_000839, RefSeq RNA:NM_001130063, UCSC Genome Browser:NM_000839, UniProtKB:Q14416, UniProtKB:Q86YG3 No chr3 51741081 51752629 51707033 51718616 +PA28992 2913 HGNC:4595 ENSG00000198822 glutamate metabotropic receptor 3 GRM3 glutamate receptor, metabotropic 3 GPRC1C, MGLUR3, mGlu3 Yes Yes Comparative Toxicogenomics Database:2913, Ensembl:ENSG00000198822, GenAtlas:GRM3, GeneCard:GRM3, HGNC:HGNC:4595, IUPHAR Receptor:291, ModBase:Q14832, NCBI Gene:2913, OMIM:601115, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000831, RefSeq RNA:NM_000840, UCSC Genome Browser:NM_000840, UniProtKB:A4D1D0, UniProtKB:Q14832 No chr7 86273230 86494193 86643914 86864879 +PA28993 2914 HGNC:4596 ENSG00000124493 glutamate metabotropic receptor 4 GRM4 glutamate receptor, metabotropic 4 GPRC1D, MGLUR4, mGlu4 Yes No Ensembl:ENSG00000124493, GenAtlas:GRM4, GeneCard:GRM4, HGNC:HGNC:4596, HumanCyc Gene:HS04780, IUPHAR Receptor:292, ModBase:Q14833, NCBI Gene:2914, OMIM:604100, RefSeq DNA:NT_007592, RefSeq Protein:NP_000832, RefSeq RNA:NM_000841, UCSC Genome Browser:NM_000841, UniProtKB:A1L4F9, UniProtKB:Q14833 No chr6 33989623 34123399 34018643 34155622 +PA28994 2915 HGNC:4597 ENSG00000168959 glutamate metabotropic receptor 5 GRM5 """glutamate receptor, metabotropic 5"", ""protein phosphatase 1, regulatory subunit 86""" GPRC1E, MGLUR5, PPP1R86, mGlu5 Yes No Ensembl:ENSG00000168959, GenAtlas:GRM5, GeneCard:GRM5, HGNC:HGNC:4597, HumanCyc Gene:HS09857, IUPHAR Receptor:293, ModBase:P41594, NCBI Gene:2915, OMIM:604102, RefSeq DNA:NT_167190, RefSeq Protein:NP_000833, RefSeq Protein:NP_001137303, RefSeq RNA:NM_000842, RefSeq RNA:NM_001143831, UCSC Genome Browser:NM_000842, UniProtKB:A8K5P7, UniProtKB:P41594 No chr11 88237256 88796846 88504576 89065971 +PA28995 2916 HGNC:4598 ENSG00000113262 glutamate metabotropic receptor 6 GRM6 glutamate receptor, metabotropic 6 CSNB1B, GPRC1F, MGLUR6, mGlu6 Yes Yes Comparative Toxicogenomics Database:2916, Ensembl:ENSG00000113262, GenAtlas:GRM6, GeneCard:GRM6, HGNC:HGNC:4598, HumanCyc Gene:HS03663, IUPHAR Receptor:294, ModBase:O15303, NCBI Gene:2916, OMIM:257270, OMIM:604096, RefSeq DNA:NG_008105, RefSeq DNA:NT_023133, RefSeq Protein:NP_000834, RefSeq RNA:NM_000843, UCSC Genome Browser:NM_000843, UniProtKB:O15303 No chr5 178405328 178422124 178978327 178995123 +PA28996 2917 HGNC:4599 ENSG00000196277 glutamate metabotropic receptor 7 GRM7 """glutamate receptor, metabotropic 7"", ""protein phosphatase 1, regulatory subunit 87""" GLUR7, GPRC1G, MGLUR7, PPP1R87, mGlu7 Yes Yes Comparative Toxicogenomics Database:2917, Ensembl:ENSG00000196277, GenAtlas:GRM7, GeneCard:GRM7, HGNC:HGNC:4599, IUPHAR Receptor:295, ModBase:Q14831, NCBI Gene:2917, OMIM:604101, RefSeq DNA:NT_022517, RefSeq Protein:NP_000835, RefSeq Protein:NP_870989, RefSeq RNA:NM_000844, RefSeq RNA:NM_181874, UCSC Genome Browser:NM_000844, UniProtKB:B2R693, UniProtKB:B9EGG9, UniProtKB:Q14831, UniProtKB:Q59G95 No chr3 6902802 7783218 6861097 7743032 +PA28997 2918 HGNC:4600 ENSG00000179603 glutamate metabotropic receptor 8 GRM8 glutamate receptor, metabotropic 8 GLUR8, GPRC1H, MGLUR8, mGlu8 Yes No Comparative Toxicogenomics Database:2918, Ensembl:ENSG00000179603, GenAtlas:GRM8, GeneCard:GRM8, HGNC:HGNC:4600, IUPHAR Receptor:296, ModBase:Q52M02, NCBI Gene:2918, OMIM:601116, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_000836, RefSeq Protein:NP_001120795, RefSeq Protein:NP_001120798, RefSeq RNA:NM_000845, RefSeq RNA:NM_001127323, RefSeq RNA:NM_001127326, RefSeq RNA:NR_028041, UCSC Genome Browser:NM_000845, UniProtKB:O00222 No chr7 126078652 126892428 126438598 127253294 +PA28998 2896 HGNC:4601 ENSG00000030582 granulin precursor GRN granulin, progranulin CLN11, PCDGF, PGRN Yes No Comparative Toxicogenomics Database:2896, Ensembl:ENSG00000030582, GenAtlas:GRN, GeneCard:GRN, HGNC:HGNC:4601, HumanCyc Gene:HS00479, ModBase:P28799, NCBI Gene:2896, OMIM:138945, OMIM:607485, RefSeq DNA:NG_007886, RefSeq DNA:NT_010783, RefSeq Protein:NP_002078, RefSeq RNA:NM_002087, UCSC Genome Browser:NM_002087, UniProtKB:P28799 No chr17 42422491 42430474 44345086 44353106 +PA28999 2922 HGNC:4605 ENSG00000134443 gastrin releasing peptide GRP bombesin, gastrin-releasing peptide, neuromedin C, prepro-GRP Yes No Comparative Toxicogenomics Database:2922, Ensembl:ENSG00000134443, GenAtlas:GRP, GeneCard:GRP, HGNC:HGNC:4605, HumanCyc Gene:HS05870, NCBI Gene:2922, OMIM:137260, RefSeq DNA:NT_025028, RefSeq Protein:NP_001012530, RefSeq Protein:NP_001012531, RefSeq Protein:NP_002082, RefSeq RNA:NM_001012512, RefSeq RNA:NM_001012513, RefSeq RNA:NM_002091, UCSC Genome Browser:NM_002091, UniProtKB:P07492 No chr18 56887400 56898003 59219188 59230774 +PA134918140 80273 HGNC:19696 ENSG00000109519 GrpE like 1, mitochondrial GRPEL1 GrpE-like 1, mitochondrial (E. coli) FLJ25609, GrpE, HMGE Yes No Comparative Toxicogenomics Database:80273, Ensembl:ENSG00000109519, GeneCard:GRPEL1, HGNC:HGNC:19696, HumanCyc Gene:HS03235, ModBase:Q9HAV7, NCBI Gene:80273, OMIM:606173, RefSeq DNA:NT_006051, RefSeq Protein:NP_079472, RefSeq RNA:NM_025196, UniProtKB:Q9HAV7 No chr4 7061780 7069800 7058895 7068210 +PA134885090 134266 HGNC:21060 ENSG00000164284 GrpE like 2, mitochondrial GRPEL2 GrpE-like 2, mitochondrial (E. coli) DKFZp451C205, FLJ23713, Mt-GrpE#2 Yes No Comparative Toxicogenomics Database:134266, Ensembl:ENSG00000164284, GeneCard:GRPEL2, HGNC:HGNC:21060, HumanCyc Gene:HS09052, ModBase:Q8TAA5, NCBI Gene:134266, RefSeq DNA:NT_029289, RefSeq Protein:NP_689620, RefSeq RNA:NM_152407, UniProtKB:Q8TAA5 No chr5 148724364 148734146 149345414 149354583 +PA29002 2925 HGNC:4609 ENSG00000126010 gastrin releasing peptide receptor GRPR bombesin receptor 2, gastrin-releasing peptide receptor BB2, BB2R, BRS2 Yes No Comparative Toxicogenomics Database:2925, Ensembl:ENSG00000126010, GenAtlas:GRPR, GeneCard:GRPR, HGNC:HGNC:4609, HumanCyc Gene:HS04989, IUPHAR Receptor:39, ModBase:P30550, NCBI Gene:2925, OMIM:305670, RefSeq DNA:NG_012512, RefSeq DNA:NT_167197, RefSeq Protein:NP_005305, RefSeq RNA:NM_005314, UCSC Genome Browser:NM_005314, UniProtKB:P30550 No chrX 16141424 16171641 16123301 16153518 +PA29003 2926 HGNC:4610 ENSG00000132463 G-rich RNA sequence binding factor 1 GRSF1 Yes No Ensembl:ENSG00000132463, GenAtlas:GRSF1, GeneCard:GRSF1, HGNC:HGNC:4610, HumanCyc Gene:HS05637, NCBI Gene:2926, OMIM:604851, RefSeq DNA:NT_022778, RefSeq Protein:NP_001091947, RefSeq Protein:NP_002083, RefSeq RNA:NM_001098477, RefSeq RNA:NM_002092, UCSC Genome Browser:NM_002092, UniProtKB:B3KPW0, UniProtKB:Q12849 No chr4 71681499 71705627 70815782 70843274 +PA134908043 79774 HGNC:20310 ENSG00000139835 growth hormone regulated TBC protein 1 GRTP1 FLJ22474, TBC1D6 Yes No Comparative Toxicogenomics Database:79774, Ensembl:ENSG00000139835, GeneCard:GRTP1, HGNC:HGNC:20310, HumanCyc Gene:HS06661, ModBase:Q5TC63, NCBI Gene:79774, RefSeq DNA:NT_027140, RefSeq Protein:NP_078995, RefSeq RNA:NM_024719, UniProtKB:Q5TC63 No chr13 113978505 114018463 113324164 113364158 +PA134897548 83743 HGNC:21270 ENSG00000105447 glutamate rich WD repeat containing 1 GRWD1 glutamate-rich WD repeat containing 1, regulator of ribosome biogenesis 1 homolog (S. cerevisiae) GRWD, RRB1, WDR28 Yes No Comparative Toxicogenomics Database:83743, Ensembl:ENSG00000105447, GeneCard:GRWD1, HGNC:HGNC:21270, ModBase:Q9BQ67, NCBI Gene:83743, OMIM:610597, RefSeq DNA:NT_011109, RefSeq Protein:NP_113673, RefSeq RNA:NM_031485, UniProtKB:A0MNN5, UniProtKB:Q9BQ67 No chr19 48949030 48957164 48445773 48453907 +PA162390253 389207 HGNC:31673 ENSG00000215203 glutaredoxin and cysteine rich domain containing 1 GRXCR1 """glutaredoxin, cysteine rich 1"", ""protein phosphatase 1, regulatory subunit 88""" DFNB25, PPP1R88 Yes No Ensembl:ENSG00000215203, GeneCard:GRXCR1, HGNC:HGNC:31673, ModBase:A8MXD5, NCBI Gene:389207, OMIM:613283, OMIM:613285, RefSeq DNA:NT_006238, RefSeq Protein:NP_001073945, RefSeq RNA:NM_001080476, UniProtKB:A8MXD5 No chr4 42895283 43032675 42893266 43030658 +PA164720311 643226 HGNC:33862 ENSG00000204928 glutaredoxin and cysteine rich domain containing 2 GRXCR2 glutaredoxin, cysteine rich 2 DFNB101 Yes No Ensembl:ENSG00000204928, GeneCard:GRXCR2, HGNC:HGNC:33862, ModBase:A6NFK2, NCBI Gene:643226, RefSeq DNA:NT_029289, RefSeq Protein:NP_001073985, RefSeq RNA:NM_001080516, UniProtKB:A6NFK2 No chr5 145239204 145299816 145858538 145931673 +PA164724500 54103 HGNC:28042 ENSG00000186088 gamma-secretase activating protein GSAP LOC54103, PION Yes No Ensembl:ENSG00000186088, GeneCard:PION, HGNC:HGNC:28042, ModBase:A4D1B5, NCBI Gene:54103, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_059135, RefSeq RNA:NM_017439, UniProtKB:A4D1B5 No chr7 76940068 77045719 77310751 77416429 +PA29004 145258 HGNC:4612 ENSG00000133937 goosecoid homeobox GSC GSC1 Yes No Comparative Toxicogenomics Database:145258, Ensembl:ENSG00000133937, GenAtlas:GSC, GeneCard:GSC, HGNC:HGNC:4612, HumanCyc Gene:HS05797, ModBase:P56915, NCBI Gene:145258, OMIM:138890, RefSeq DNA:NT_026437, RefSeq Protein:NP_776248, RefSeq RNA:NM_173849, UCSC Genome Browser:NM_173849, UniProtKB:P56915 No chr14 95234560 95236499 94768223 94770162 +PA162390265 2928 HGNC:4613 ENSG00000063515 goosecoid homeobox 2 GSC2 GSCL Yes No Ensembl:ENSG00000063515, GeneCard:GSC2, HGNC:HGNC:4613, HumanCyc Gene:HS00783, ModBase:O15499, NCBI Gene:2928, OMIM:601845, RefSeq DNA:NT_011519, RefSeq Protein:NP_005306, RefSeq RNA:NM_005315, UniProtKB:O15499 No chr22 19136504 19137796 19148991 19150283 +PA162390274 284110 HGNC:13311 ENSG00000167914 gasdermin A GSDMA FLJ39120, GSDM, GSDM1 Yes No Ensembl:ENSG00000167914, GeneCard:GSDMA, HGNC:HGNC:13311, NCBI Gene:284110, OMIM:611218, RefSeq DNA:NT_010755, RefSeq DNA:NT_010783, RefSeq Protein:NP_835465, RefSeq RNA:NM_178171, UniProtKB:Q96QA5 No chr17 38119226 38134019 39962973 39977880 +PA162390303 55876 HGNC:23690 ENSG00000073605 gasdermin B GSDMB GSDML, PRO2521 Yes No Ensembl:ENSG00000073605, GeneCard:GSDMB, HGNC:HGNC:23690, HumanCyc Gene:HS12225, NCBI Gene:55876, OMIM:611221, RefSeq DNA:NG_015804, RefSeq DNA:NT_010783, RefSeq Protein:NP_001035936, RefSeq Protein:NP_001159430, RefSeq Protein:NP_001159431, RefSeq Protein:NP_061000, RefSeq RNA:NM_001042471, RefSeq RNA:NM_001165958, RefSeq RNA:NM_001165959, RefSeq RNA:NM_018530, UniProtKB:B4DKK7, UniProtKB:Q8TAX9 No chr17 38060848 38074903 39904595 39919377 +PA162390324 56169 HGNC:7151 ENSG00000147697 gasdermin C GSDMC MLZE Yes No Ensembl:ENSG00000147697, GeneCard:GSDMC, HGNC:HGNC:7151, HumanCyc Gene:HS14217, NCBI Gene:56169, OMIM:608384, RefSeq DNA:NT_008046, RefSeq Protein:NP_113603, RefSeq RNA:NM_031415, UniProtKB:Q9BYG8 No chr8 130760442 130799134 129705903 129786888 +PA162390357 79792 HGNC:25697 ENSG00000104518 gasdermin D GSDMD DF5L, FLJ12150, GSDMDC1 Yes No Ensembl:ENSG00000104518, GeneCard:GSDMD, HGNC:HGNC:25697, HumanCyc Gene:HS12553, ModBase:P57764, NCBI Gene:79792, RefSeq DNA:NT_008046, RefSeq Protein:NP_001159709, RefSeq Protein:NP_079012, RefSeq RNA:NM_001166237, RefSeq RNA:NM_024736, UniProtKB:A8K702, UniProtKB:P57764 No chr8 144635383 144645232 143553387 143563062 +PA27281 1687 HGNC:2810 ENSG00000105928 gasdermin E GSDME """deafness, autosomal dominant 5"", ""inversely correlated with estrogen receptor expression""" DFNA5, ICERE-1 Yes No Comparative Toxicogenomics Database:1687, Ensembl:ENSG00000105928, GenAtlas:DFNA5, GeneCard:DFNA5, HGNC:HGNC:2810, HumanCyc Gene:HS02829, ModBase:O60443, NCBI Gene:1687, OMIM:600994, OMIM:608798, RefSeq DNA:NG_011593, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001120925, RefSeq Protein:NP_001120926, RefSeq Protein:NP_004394, RefSeq RNA:NM_001127453, RefSeq RNA:NM_001127454, RefSeq RNA:NM_004403, UCSC Genome Browser:NM_004403, UniProtKB:A4FVA8, UniProtKB:B3KT05, UniProtKB:O60443 No chr7 24737974 24797639 24698355 24758020 +PA143485512 23199 HGNC:28979 ENSG00000131149 Gse1 coiled-coil protein GSE1 genetic suppressor element 1 KIAA0182 Yes No Ensembl:ENSG00000131149, GeneCard:KIAA0182, HGNC:HGNC:28979, ModBase:Q14687, NCBI Gene:23199, RefSeq DNA:NT_010498, RefSeq Protein:NP_001127945, RefSeq Protein:NP_055430, RefSeq RNA:NM_001134473, RefSeq RNA:NM_014615, UniProtKB:Q14687 No chr16 85203152 85709812 85169512 85676206 +PA134868096 83445 HGNC:19716 ENSG00000111305 germ cell associated 1 GSG1 MGC3146 Yes No Ensembl:ENSG00000111305, GeneCard:GSG1, HGNC:HGNC:19716, HumanCyc Gene:HS12738, NCBI Gene:83445, RefSeq DNA:NT_009714, RefSeq Protein:NP_001074023, RefSeq Protein:NP_001074024, RefSeq Protein:NP_001193771, RefSeq Protein:NP_001193772, RefSeq Protein:NP_001193774, RefSeq Protein:NP_112579, RefSeq Protein:NP_722545, RefSeq RNA:NM_001080554, RefSeq RNA:NM_001080555, RefSeq RNA:NM_001206842, RefSeq RNA:NM_001206843, RefSeq RNA:NM_001206845, RefSeq RNA:NM_031289, RefSeq RNA:NM_153823, UniProtKB:Q2KHT4 No chr12 13236471 13256659 13083537 13103720 +PA145148734 146395 HGNC:28283 ENSG00000169181 GSG1 like GSG1L GSG1-like KTSR5831, MGC18079, PRO19651 Yes No Ensembl:ENSG00000169181, GeneCard:GSG1L, HGNC:HGNC:28283, HumanCyc Gene:HS15755, NCBI Gene:146395, RefSeq DNA:NT_010393, RefSeq Protein:NP_001103233, RefSeq Protein:NP_653276, RefSeq RNA:NM_001109763, RefSeq RNA:NM_144675, UniProtKB:B3KY67, UniProtKB:Q6UXU4 No chr16 27798850 28074830 27787529 28063509 +PA166181538 644070 HGNC:51826 ENSG00000214978 GSG1 like 2 GSG1L2 Yes No Ensembl:ENSG00000214978, HGNC:HGNC:51826, NCBI Gene:644070 No 0 0 0 0 +PA29008 2931 HGNC:4616 ENSG00000105723 glycogen synthase kinase 3 alpha GSK3A Yes No Comparative Toxicogenomics Database:2931, Ensembl:ENSG00000105723, GenAtlas:GSK3A, GeneCard:GSK3A, HGNC:HGNC:4616, HumanCyc Gene:HS02806, ModBase:P49840, NCBI Gene:2931, OMIM:606784, RefSeq DNA:NT_011109, RefSeq Protein:NP_063937, RefSeq RNA:NM_019884, UCSC Genome Browser:NM_019884, UniProtKB:P49840 No chr19 42734338 42746736 42230186 42243330 +PA29009 2932 HGNC:4617 ENSG00000082701 glycogen synthase kinase 3 beta GSK3B Yes Yes Comparative Toxicogenomics Database:2932, Ensembl:ENSG00000082701, GenAtlas:GSK3B, GeneCard:GSK3B, HGNC:HGNC:4617, HumanCyc Gene:HS01429, ModBase:P49841, NCBI Gene:2932, OMIM:605004, RefSeq DNA:NG_012922, RefSeq DNA:NT_005612, RefSeq Protein:NP_001139628, RefSeq Protein:NP_002084, RefSeq RNA:NM_001146156, RefSeq RNA:NM_002093, UCSC Genome Browser:NM_002093, UniProtKB:P49841, UniProtKB:Q6FI27 No chr3 119540800 119813264 119821321 120094417 +PA134987554 51527 HGNC:20343 ENSG00000100744 GSK3B interacting protein GSKIP GSK3beta interaction protein C14orf129 Yes No Ensembl:ENSG00000100744, GeneCard:C14orf129, HGNC:HGNC:20343, HumanCyc Gene:HS12425, NCBI Gene:51527, RefSeq DNA:NT_026437, RefSeq Protein:NP_057556, RefSeq RNA:NM_016472, UniProtKB:Q9P0R6 No chr14 96829789 96853627 96363452 96387290 +PA29011 2934 HGNC:4620 ENSG00000148180 gelsolin GSN amyloidosis, Finnish type DKFZp313L0718 Yes No Comparative Toxicogenomics Database:2934, Ensembl:ENSG00000148180, GenAtlas:GSN, GeneCard:GSN, HGNC:HGNC:4620, HumanCyc Gene:HS07497, ModBase:P06396, NCBI Gene:2934, OMIM:105120, OMIM:137350, RefSeq DNA:NG_012872, RefSeq DNA:NT_008470, RefSeq Protein:NP_000168, RefSeq Protein:NP_001121134, RefSeq Protein:NP_001121135, RefSeq Protein:NP_001121136, RefSeq Protein:NP_001121137, RefSeq Protein:NP_001121138, RefSeq Protein:NP_001121139, RefSeq Protein:NP_937895, RefSeq RNA:NM_000177, RefSeq RNA:NM_001127662, RefSeq RNA:NM_001127663, RefSeq RNA:NM_001127664, RefSeq RNA:NM_001127665, RefSeq RNA:NM_001127666, RefSeq RNA:NM_001127667, RefSeq RNA:NM_198252, UCSC Genome Browser:NM_000177, UniProtKB:A2A418, UniProtKB:B7Z373, UniProtKB:P06396, UniProtKB:Q5T0I2 No chr9 124030380 124095122 121201082 121332844 +PA142672312 57000 HGNC:23372 ENSG00000235865 GSN antisense RNA 1 GSN-AS1 MOST2 Yes No Ensembl:ENSG00000235865, GeneCard:GSN-AS1, HGNC:HGNC:23372, NCBI Gene:57000, RefSeq DNA:NT_008470, RefSeq RNA:XR_040686, RefSeq RNA:XR_040687, RefSeq RNA:XR_040688 No chr9 124043046 124047808 121280768 121285530 +PA29012 2935 HGNC:4621 ENSG00000103342 G1 to S phase transition 1 GSPT1 eukaryotic release factor 3a ETF3A, GST1, eRF3a Yes No Comparative Toxicogenomics Database:2935, Ensembl:ENSG00000103342, GenAtlas:GSPT1, GeneCard:GSPT1, HGNC:HGNC:4621, ModBase:P15170, NCBI Gene:2935, OMIM:139259, RefSeq DNA:NT_010393, RefSeq Protein:NP_001123478, RefSeq Protein:NP_001123479, RefSeq Protein:NP_002085, RefSeq RNA:NM_001130006, RefSeq RNA:NM_001130007, RefSeq RNA:NM_002094, UCSC Genome Browser:NM_002094, UniProtKB:B2RCT6, UniProtKB:P15170, UniProtKB:Q7KZX8, UniProtKB:Q96GF2 No chr16 11961985 12010519 11868128 11916662 +PA29013 23708 HGNC:4622 ENSG00000189369 G1 to S phase transition 2 GSPT2 FLJ10441, eRF3b Yes No Ensembl:ENSG00000189369, GenAtlas:GSPT2, GeneCard:GSPT2, HGNC:HGNC:4622, HumanCyc Gene:HS02491, ModBase:Q8IYD1, NCBI Gene:23708, OMIM:300418, RefSeq DNA:NG_016857, RefSeq DNA:NT_011638, RefSeq Protein:NP_060564, RefSeq RNA:NM_018094, UCSC Genome Browser:NM_018094, UniProtKB:Q8IYD1 No chrX 51486481 51489328 51743385 51746232 +PA29014 2936 HGNC:4623 ENSG00000104687 glutathione-disulfide reductase GSR glutathione S-reductase, glutathione reductase Yes Yes Comparative Toxicogenomics Database:2936, Ensembl:ENSG00000104687, GenAtlas:GSR, GeneCard:GSR, HGNC:HGNC:4623, HumanCyc Gene:HS02602, ModBase:P00390, NCBI Gene:2936, OMIM:138300, RefSeq DNA:NT_167187, RefSeq Protein:NP_000628, RefSeq Protein:NP_001182031, RefSeq Protein:NP_001182032, RefSeq Protein:NP_001182033, RefSeq RNA:NM_000637, RefSeq RNA:NM_001195102, RefSeq RNA:NM_001195103, RefSeq RNA:NM_001195104, UCSC Genome Browser:NM_000637, UniProtKB:P00390 No chr8 30535578 30585486 30678061 30727969 +PA29015 2937 HGNC:4624 ENSG00000100983 glutathione synthetase GSS Yes No Comparative Toxicogenomics Database:2937, Ensembl:ENSG00000100983, GenAtlas:GSS, GeneCard:GSS, HGNC:HGNC:4624, HumanCyc Gene:HS02174, ModBase:P48637, NCBI Gene:2937, OMIM:231900, OMIM:266130, OMIM:601002, RefSeq DNA:NG_008848, RefSeq DNA:NT_011362, RefSeq Protein:NP_000169, RefSeq RNA:NM_000178, UCSC Genome Browser:NM_000178, UniProtKB:P48637 No chr20 33516236 33543794 34928433 34956027 +PA29016 2938 HGNC:4626 ENSG00000243955 glutathione S-transferase alpha 1 GSTA1 Yes Yes Comparative Toxicogenomics Database:2938, Ensembl:ENSG00000243955, GenAtlas:GSTA1, GeneCard:GSTA1, HGNC:HGNC:4626, ModBase:P08263, NCBI Gene:2938, OMIM:138359, RefSeq DNA:NT_007592, RefSeq Protein:NP_665683, RefSeq RNA:NM_145740, UCSC Genome Browser:NM_145740, UniProtKB:P08263, UniProtKB:Q5SZC1 No chr6 52656178 52668664 52791380 52803967 +PA29017 2939 HGNC:4627 ENSG00000244067 glutathione S-transferase alpha 2 GSTA2 GST2 Yes Yes Comparative Toxicogenomics Database:2939, Ensembl:ENSG00000244067, GenAtlas:GSTA2, GeneCard:GSTA2, HGNC:HGNC:4627, HumanCyc Gene:HS01846, ModBase:P09210, NCBI Gene:2939, OMIM:138360, RefSeq DNA:NT_007592, RefSeq Protein:NP_000837, RefSeq RNA:NM_000846, UCSC Genome Browser:NM_000846, UniProtKB:A8K987, UniProtKB:P09210 No chr6 52614885 52628361 52750087 52763563 +PA29018 2940 HGNC:4628 ENSG00000174156 glutathione S-transferase alpha 3 GSTA3 Yes No Comparative Toxicogenomics Database:2940, Ensembl:ENSG00000174156, GenAtlas:GSTA3, GeneCard:GSTA3, HGNC:HGNC:4628, HumanCyc Gene:HS07329, ModBase:Q16772, NCBI Gene:2940, OMIM:605449, RefSeq DNA:NT_007592, RefSeq Protein:NP_000838, RefSeq RNA:NM_000847, UCSC Genome Browser:NM_000847, UniProtKB:Q16772 No chr6 52761437 52774496 52896639 52909799 +PA29019 2941 HGNC:4629 ENSG00000170899 glutathione S-transferase alpha 4 GSTA4 Yes No Comparative Toxicogenomics Database:2941, Ensembl:ENSG00000170899, GenAtlas:GSTA4, GeneCard:GSTA4, HGNC:HGNC:4629, HumanCyc Gene:HS10203, ModBase:O15217, NCBI Gene:2941, OMIM:605450, RefSeq DNA:NT_007592, RefSeq Protein:NP_001503, RefSeq RNA:NM_001512, UCSC Genome Browser:NM_001512, UniProtKB:O15217, UniProtKB:Q6P4G1 No chr6 52842746 52860178 52977948 52995380 +PA134962856 221357 HGNC:19662 ENSG00000182793 glutathione S-transferase alpha 5 GSTA5 Yes Yes Comparative Toxicogenomics Database:221357, Ensembl:ENSG00000182793, GeneCard:GSTA5, HGNC:HGNC:19662, HumanCyc Gene:HS10772, ModBase:Q7RTV2, NCBI Gene:221357, OMIM:607605, RefSeq DNA:NT_007592, RefSeq Protein:NP_714543, RefSeq RNA:NM_153699, UniProtKB:Q7RTV2 No chr6 52696540 52710893 52831742 52846095 +PA29020 2942 HGNC:4630 ENSG00000223622 glutathione S-transferase alpha 6, pseudogene GSTA6P Yes No Ensembl:ENSG00000223622, GenAtlas:GSTAP1, GeneCard:GSTA6P, HGNC:HGNC:4630, NCBI Gene:2942, RefSeq DNA:NG_001135, RefSeq DNA:NT_007592 No chr6 52670244 52678260 52805446 52813462 +PA144596427 79807 HGNC:25806 ENSG00000138780 glutathione S-transferase C-terminal domain containing GSTCD glutathione S-transferase, C-terminal domain containing FLJ13273 Yes No Ensembl:ENSG00000138780, GeneCard:GSTCD, HGNC:HGNC:25806, HumanCyc Gene:HS13745, ModBase:Q8NEC7, NCBI Gene:79807, RefSeq DNA:NT_016354, RefSeq Protein:NP_001026890, RefSeq Protein:NP_079027, RefSeq RNA:NM_001031720, RefSeq RNA:NM_024751, UniProtKB:Q8NEC7 No chr4 106629935 106768882 105708778 105848023 +PA134948237 373156 HGNC:16906 ENSG00000197448 glutathione S-transferase kappa 1 GSTK1 GST13 Yes No Comparative Toxicogenomics Database:373156, Ensembl:ENSG00000197448, GeneCard:GSTK1, HGNC:HGNC:16906, ModBase:Q9Y2Q3, NCBI Gene:373156, OMIM:602321, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001137151, RefSeq Protein:NP_001137152, RefSeq Protein:NP_001137153, RefSeq Protein:NP_057001, RefSeq RNA:NM_001143679, RefSeq RNA:NM_001143680, RefSeq RNA:NM_001143681, RefSeq RNA:NM_015917, UniProtKB:B4DIH1, UniProtKB:B4DSY2, UniProtKB:Q6FII1, UniProtKB:Q9Y2Q3 No chr7 142960506 142966222 143263429 143269129 +PA182 2944 HGNC:4632 ENSG00000134184 glutathione S-transferase mu 1 GSTM1 GST1, H-B, MU Yes Yes Comparative Toxicogenomics Database:2944, Ensembl:ENSG00000134184, GenAtlas:GSTM1, GeneCard:GSTM1, HGNC:HGNC:4632, HumanCyc Gene:HS05827, ModBase:P09488, NCBI Gene:2944, OMIM:138350, RefSeq DNA:NG_009246, RefSeq DNA:NT_032977, RefSeq Protein:NP_000552, RefSeq Protein:NP_666533, RefSeq RNA:NM_000561, RefSeq RNA:NM_146421, UCSC Genome Browser:NM_000561, UniProtKB:P09488 No chr1 110230418 110240828 109687796 109693745 +PA29023 2946 HGNC:4634 ENSG00000213366 glutathione S-transferase mu 2 GSTM2 glutathione S-transferase mu 2 (muscle) GST4 Yes No Comparative Toxicogenomics Database:2946, Ensembl:ENSG00000213366, GenAtlas:GSTM2, GeneCard:GSTM2, HGNC:HGNC:4634, HumanCyc Gene:HS09818, ModBase:P28161, NCBI Gene:2946, OMIM:138380, RefSeq DNA:NT_032977, RefSeq Protein:NP_000839, RefSeq Protein:NP_001135840, RefSeq RNA:NM_000848, RefSeq RNA:NM_001142368, UCSC Genome Browser:NM_000848, UniProtKB:B4DRY4, UniProtKB:P28161, UniProtKB:Q0D2I8 No chr1 110210644 110226619 109668022 109683997 +PA29024 2947 HGNC:4635 ENSG00000134202 glutathione S-transferase mu 3 GSTM3 glutathione S-transferase mu 3 (brain) GST5, GSTM3TV2 Yes Yes Comparative Toxicogenomics Database:2947, Ensembl:ENSG00000134202, GenAtlas:GSTM3, GeneCard:GSTM3, HGNC:HGNC:4635, HumanCyc Gene:HS05833, ModBase:P21266, NCBI Gene:2947, OMIM:138390, RefSeq DNA:NT_032977, RefSeq Protein:NP_000840, RefSeq RNA:NM_000849, RefSeq RNA:NR_024537, UCSC Genome Browser:NM_000849, UniProtKB:P21266, UniProtKB:Q6FGJ9 No chr1 110276554 110283660 109733932 109741038 +PA29025 170523 HGNC:16606 ENSG00000227693 glutathione S-transferase mu 3 pseudogene 1 GSTM3P1 dJ984P4.2 Yes No Ensembl:ENSG00000227693, GenAtlas:GSTM3P, GeneCard:GSTM3P1, HGNC:HGNC:16606, NCBI Gene:170523, RefSeq DNA:NG_001040, RefSeq DNA:NT_011387 No chr20 21482034 21482607 21501396 21501969 +PA29026 2948 HGNC:4636 ENSG00000168765 glutathione S-transferase mu 4 GSTM4 Yes Yes Comparative Toxicogenomics Database:2948, Ensembl:ENSG00000168765, GenAtlas:GSTM4, GeneCard:GSTM4, HGNC:HGNC:4636, HumanCyc Gene:HS09817, ModBase:Q03013, NCBI Gene:2948, OMIM:138333, RefSeq DNA:NT_032977, RefSeq Protein:NP_000841, RefSeq Protein:NP_671489, RefSeq RNA:NM_000850, RefSeq RNA:NM_147148, RefSeq RNA:NR_024538, UCSC Genome Browser:NM_000850, UniProtKB:Q03013 No chr1 110198698 110208123 109656076 109665501 +PA29027 2949 HGNC:4637 ENSG00000134201 glutathione S-transferase mu 5 GSTM5 Yes Yes Comparative Toxicogenomics Database:2949, Ensembl:ENSG00000134201, GenAtlas:GSTM5, GeneCard:GSTM5, HGNC:HGNC:4637, HumanCyc Gene:HS05832, ModBase:P46439, NCBI Gene:2949, OMIM:138385, RefSeq DNA:NT_032977, RefSeq Protein:NP_000842, RefSeq RNA:NM_000851, UCSC Genome Browser:NM_000851, UniProtKB:P46439, UniProtKB:Q5T8R2 No chr1 110254406 110260890 109711751 109718268 +PA29022 2945 HGNC:4633 ENSG00000236062 glutathione S-transferase mu 5 pseudogene 1 GSTM5P1 Yes No Ensembl:ENSG00000236062, GenAtlas:GSTM1L, GeneCard:GSTM5P1, HGNC:HGNC:4633, NCBI Gene:2945, OMIM:138270, RefSeq DNA:NT_022517, RefSeq RNA:NR_003112 No chr3 +PA133787054 9446 HGNC:13312 ENSG00000148834 glutathione S-transferase omega 1 GSTO1 GSTTLp28, P28 Yes No Comparative Toxicogenomics Database:9446, Ensembl:ENSG00000148834, GeneCard:GSTO1, HGNC:HGNC:13312, HumanCyc Gene:HS07564, NCBI Gene:9446, OMIM:605482, RefSeq DNA:NG_023362, RefSeq DNA:NT_030059, RefSeq Protein:NP_001177931, RefSeq Protein:NP_001177932, RefSeq Protein:NP_004823, RefSeq RNA:NM_001191002, RefSeq RNA:NM_001191003, RefSeq RNA:NM_004832, UniProtKB:P78417 No chr10 106013952 106027222 104254194 104267464 +PA133787053 119391 HGNC:23064 ENSG00000065621 glutathione S-transferase omega 2 GSTO2 Yes No Comparative Toxicogenomics Database:119391, Ensembl:ENSG00000065621, GeneCard:GSTO2, HGNC:HGNC:23064, ModBase:Q9H4Y5, NCBI Gene:119391, OMIM:612314, RefSeq DNA:NG_023363, RefSeq DNA:NT_030059, RefSeq Protein:NP_001177942, RefSeq Protein:NP_001177943, RefSeq Protein:NP_001177944, RefSeq Protein:NP_899062, RefSeq RNA:NM_001191013, RefSeq RNA:NM_001191014, RefSeq RNA:NM_001191015, RefSeq RNA:NM_183239, UniProtKB:Q9H4Y5 No chr10 106028174 106059176 104267626 104304948 +PA134909109 344813 HGNC:23065 ENSG00000232829 glutathione S-transferase omega 3, pseudogene GSTO3P Yes No Ensembl:ENSG00000232829, HGNC:HGNC:23065, NCBI Gene:344813, RefSeq DNA:NG_005668, RefSeq DNA:NT_005612 No chr3 130546482 130547277 130827638 130828433 +PA29028 2950 HGNC:4638 ENSG00000084207 glutathione S-transferase pi 1 GSTP1 FAEES3, GST3, GSTP Yes Yes Comparative Toxicogenomics Database:2950, Ensembl:ENSG00000084207, GenAtlas:GSTP1, GeneCard:GSTP1, HGNC:HGNC:4638, HumanCyc Gene:HS01468, ModBase:P09211, NCBI Gene:2950, OMIM:134660, RefSeq DNA:NG_012075, RefSeq DNA:NT_167190, RefSeq Protein:NP_000843, RefSeq RNA:NM_000852, UCSC Genome Browser:NM_000852, UniProtKB:P09211 No chr11 67351066 67354125 67583595 67586653 +PA29029 2951 HGNC:4640 ENSG00000257569 glutathione S-transferase pi 1 pseudogene 1 GSTP1P1 GSTP1P Yes No Ensembl:ENSG00000257569, GenAtlas:GSTPP, GeneCard:GSTP1P1, HGNC:HGNC:4640, NCBI Gene:2951, RefSeq DNA:NG_004638, RefSeq DNA:NT_029419 No chr12 56294084 56294495 55900300 55900711 +PA183 2952 HGNC:4641 ENSG00000277656 glutathione S-transferase theta 1 GSTT1 Yes Yes Comparative Toxicogenomics Database:2952, Ensembl:ENSG00000277656, GenAtlas:GSTT1, GeneCard:GSTT1, HGNC:HGNC:4641, HumanCyc Gene:HS05763, ModBase:P30711, NCBI Gene:2952, OMIM:600436, RefSeq DNA:NT_011520, RefSeq Protein:NP_000844, RefSeq RNA:NM_000853, UCSC Genome Browser:NM_000853, UniProtKB:P30711 No chr22 24376135 24384284 270308 278486 +PA29030 2953 HGNC:4642 ENSG00000099984, ENSG00000133433 glutathione S-transferase theta 2 (gene/pseudogene) GSTT2 glutathione S-transferase theta 2 Yes No Comparative Toxicogenomics Database:2953, Ensembl:ENSG00000099984, Ensembl:ENSG00000133433, GenAtlas:GSTT2, GeneCard:GSTT2, HGNC:HGNC:4642, HumanCyc Gene:HS01943, NCBI Gene:2953, OMIM:600437, RefSeq DNA:NT_011520, RefSeq Protein:NP_000845, RefSeq RNA:NM_000854, UCSC Genome Browser:NM_000854 No chr22 24322291 24326106 23980028 23983915 +PA162390358 653689 HGNC:33437 ENSG00000133433 glutathione S-transferase theta 2B GSTT2B glutathione S-transferase theta 2B (gene/pseudogene) GSTT2P Yes No Ensembl:ENSG00000133433, GeneCard:GSTT2B, HGNC:HGNC:33437, NCBI Gene:653689, RefSeq DNA:NT_011520, RefSeq Protein:NP_001074312, RefSeq RNA:NM_001080843, UniProtKB:P0CG30 No chr22 24299601 24303416 23957414 23961201 +PA166181539 25774 HGNC:26930 ENSG00000276950 glutathione S-transferase theta 4 GSTT4 GSTTP1, HS322B1A Yes No Ensembl:ENSG00000276950, HGNC:HGNC:26930, NCBI Gene:25774 No 0 0 0 0 +PA29031 2954 HGNC:4643 ENSG00000100577 glutathione S-transferase zeta 1 GSTZ1 maleylacetoacetate isomerase GSTZ1-1, MAAI, MAI Yes Yes Comparative Toxicogenomics Database:2954, Ensembl:ENSG00000100577, GenAtlas:GSTZ1, GeneCard:GSTZ1, HGNC:HGNC:4643, HumanCyc Gene:HS02114, ModBase:O43708, NCBI Gene:2954, OMIM:603758, RefSeq DNA:NT_026437, RefSeq Protein:NP_001504, RefSeq Protein:NP_665877, RefSeq Protein:NP_665878, RefSeq RNA:NM_001513, RefSeq RNA:NM_145870, RefSeq RNA:NM_145871, UCSC Genome Browser:NM_001513, UniProtKB:A6NED0, UniProtKB:A6NNB8, UniProtKB:O43708 No chr14 77787230 77797940 77320887 77331597 +PA162390373 219409 HGNC:20374 ENSG00000169840 GS homeobox 1 GSX1 GSH1, Gsh-1 Yes No Ensembl:ENSG00000169840, GeneCard:GSX1, HGNC:HGNC:20374, ModBase:Q9H4S2, NCBI Gene:219409, RefSeq DNA:NT_024524, RefSeq Protein:NP_663632, RefSeq RNA:NM_145657, UniProtKB:Q9H4S2 No chr13 28366780 28368089 27792643 27793952 +PA162390374 170825 HGNC:24959 ENSG00000180613 GS homeobox 2 GSX2 Gsh2 Yes No Ensembl:ENSG00000180613, GeneCard:GSX2, HGNC:HGNC:24959, HumanCyc Gene:HS11510, ModBase:Q9BZM3, NCBI Gene:170825, RefSeq DNA:NT_022853, RefSeq Protein:NP_573574, RefSeq RNA:NM_133267, UniProtKB:B2LYG3, UniProtKB:Q9BZM3 No chr4 54966248 54968122 54100081 54101955 +PA166351830 HGNC:4644 galactosyltransferase activator GTA GGTB1 Yes No HGNC:HGNC:4644 No 0 0 0 0 +PA134892601 79712 HGNC:20887 ENSG00000121964 glycosyltransferase like domain containing 1 GTDC1 glycosyltransferase-like domain containing 1, mannosyltransferase-like FLJ11753, Hmat-Xa Yes No Ensembl:ENSG00000121964, GeneCard:GTDC1, HGNC:HGNC:20887, HumanCyc Gene:HS13036, ModBase:Q4AE62, NCBI Gene:79712, OMIM:610165, RefSeq DNA:NT_022135, RefSeq Protein:NP_001006637, RefSeq Protein:NP_001158101, RefSeq Protein:NP_078935, RefSeq RNA:NM_001006636, RefSeq RNA:NM_001164629, RefSeq RNA:NM_024659, UniProtKB:Q4AE62 No chr2 144702502 145112578 143945787 144333092 +PA29033 2957 HGNC:4646 ENSG00000165417 general transcription factor IIA subunit 1 GTF2A1 """TFIIA alpha/beta subunits"", ""general transcription factor IIA, 1, 19/37kDa""" TFIIA Yes No Comparative Toxicogenomics Database:2957, Ensembl:ENSG00000165417, GenAtlas:GTF2A1, GeneCard:GTF2A1, HGNC:HGNC:4646, HumanCyc Gene:HS09229, ModBase:P52655, NCBI Gene:2957, OMIM:600520, RefSeq DNA:NT_026437, RefSeq Protein:NP_056943, RefSeq Protein:NP_963889, RefSeq RNA:NM_015859, RefSeq RNA:NM_201595, UCSC Genome Browser:NM_015859, UniProtKB:P52655 No chr14 81641796 81687575 81175452 81221231 +PA162390383 11036 HGNC:30727 ENSG00000242441 general transcription factor IIA subunit 1 like GTF2A1L """TFIIA alpha/beta like factor"", ""general transcription factor IIA, 1-like""" ALF Yes No Ensembl:ENSG00000242441, GeneCard:GTF2A1L, HGNC:HGNC:30727, HumanCyc Gene:HS00943, ModBase:Q9UNN4, NCBI Gene:11036, OMIM:605358, RefSeq DNA:NT_022184, RefSeq Protein:NP_001180416, RefSeq Protein:NP_006863, RefSeq Protein:NP_751946, RefSeq RNA:NM_001193487, RefSeq RNA:NM_006872, RefSeq RNA:NM_172196, UniProtKB:A8MXJ1, UniProtKB:Q9UNN4 No chr2 48844937 49003645 48617780 48679609 +PA29034 2958 HGNC:4647 ENSG00000140307 general transcription factor IIA subunit 2 GTF2A2 """TFIIA gamma subunit"", ""general transcription factor IIA, 2, 12kDa""" HsT18745, TFIIA Yes No Comparative Toxicogenomics Database:2958, Ensembl:ENSG00000140307, GenAtlas:GTF2A2, GeneCard:GTF2A2, HGNC:HGNC:4647, HumanCyc Gene:HS06700, ModBase:P52657, NCBI Gene:2958, OMIM:600519, RefSeq DNA:NT_010194, RefSeq Protein:NP_004483, RefSeq RNA:NM_004492, UCSC Genome Browser:NM_004492, UniProtKB:B2R506, UniProtKB:P52657 No chr15 59930261 59949737 59638062 59657541 +PA29035 2959 HGNC:4648 ENSG00000137947 general transcription factor IIB GTF2B TFIIB Yes No Comparative Toxicogenomics Database:2959, Ensembl:ENSG00000137947, GenAtlas:GTF2B, GeneCard:GTF2B, HGNC:HGNC:4648, HumanCyc Gene:HS06423, ModBase:Q00403, NCBI Gene:2959, OMIM:189963, RefSeq DNA:NT_032977, RefSeq Protein:NP_001505, RefSeq RNA:NM_001514, UCSC Genome Browser:NM_001514, UniProtKB:Q00403 No chr1 89318321 89357301 88852638 88891944 +PA29036 2960 HGNC:4650 ENSG00000153767 general transcription factor IIE subunit 1 GTF2E1 """TFIIE alpha subunit"", ""general transcription factor IIE, polypeptide 1, alpha 56kDa""" FE, TFIIE-A Yes No Ensembl:ENSG00000153767, GenAtlas:GTF2E1, GeneCard:GTF2E1, HGNC:HGNC:4650, HumanCyc Gene:HS07920, ModBase:P29083, NCBI Gene:2960, OMIM:189962, RefSeq DNA:NT_005612, RefSeq Protein:NP_005504, RefSeq RNA:NM_005513, UCSC Genome Browser:NM_005513, UniProtKB:P29083 No chr3 120461558 120502216 120742711 120783134 +PA29037 2961 HGNC:4651 ENSG00000197265 general transcription factor IIE subunit 2 GTF2E2 """TFIIE beta subunit"", ""Transcription initiation factor IIE subunit beta"", ""general transcription factor IIE, polypeptide 2, beta 34kDa""" FE, TF2E2, TFIIE-B Yes No Comparative Toxicogenomics Database:2961, Ensembl:ENSG00000197265, GenAtlas:GTF2E2, GeneCard:GTF2E2, HGNC:HGNC:4651, HumanCyc Gene:HS01128, NCBI Gene:2961, OMIM:189964, RefSeq DNA:NT_167187, RefSeq Protein:NP_002086, RefSeq RNA:NM_002095, UCSC Genome Browser:NM_002095, UniProtKB:P29084 No chr8 30436031 30515738 30578514 30658241 +PA29038 2962 HGNC:4652 ENSG00000125651 general transcription factor IIF subunit 1 GTF2F1 general transcription factor IIF, polypeptide 1, 74kDa BTF4, RAP74, TF2F1, TFIIF Yes No Comparative Toxicogenomics Database:2962, Ensembl:ENSG00000125651, GenAtlas:GTF2F1, GeneCard:GTF2F1, HGNC:HGNC:4652, HumanCyc Gene:HS04910, ModBase:P35269, NCBI Gene:2962, OMIM:189968, RefSeq DNA:NT_011255, RefSeq Protein:NP_002087, RefSeq RNA:NM_002096, UCSC Genome Browser:NM_002096, UniProtKB:P35269 No chr19 6379580 6393291 6379569 6393280 +PA29039 2963 HGNC:4653 ENSG00000188342 general transcription factor IIF subunit 2 GTF2F2 general transcription factor IIF, polypeptide 2, 30kDa BTF4, RAP30, TFIIF Yes No Comparative Toxicogenomics Database:2963, Ensembl:ENSG00000188342, GenAtlas:GTF2F2, GeneCard:GTF2F2, HGNC:HGNC:4653, NCBI Gene:2963, OMIM:189969, RefSeq DNA:NT_024524, RefSeq Protein:NP_004119, RefSeq RNA:NM_004128, UCSC Genome Browser:NM_004128, UniProtKB:P13984 No chr13 45694631 45858240 45119830 45284105 +PA29040 2964 HGNC:4654 ENSG00000251254 general transcription factor IIF, polypeptide 2 pseudogene 1 GTF2F2P1 TFIIF Yes No Ensembl:ENSG00000251254, GenAtlas:GTF2F2L, GeneCard:GTF2F2P1, HGNC:HGNC:4654, NCBI Gene:2964, RefSeq DNA:NG_003013, RefSeq DNA:NT_016354 No chr4 148427241 148428379 147506089 147507227 +PA29041 2965 HGNC:4655 ENSG00000110768 general transcription factor IIH subunit 1 GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa BTF2, P62, TFIIH Yes No Comparative Toxicogenomics Database:2965, Ensembl:ENSG00000110768, GenAtlas:GTF2H1, GeneCard:GTF2H1, HGNC:HGNC:4655, HumanCyc Gene:HS03336, ModBase:P32780, NCBI Gene:2965, OMIM:189972, RefSeq DNA:NT_009237, RefSeq Protein:NP_001135779, RefSeq Protein:NP_005307, RefSeq RNA:NM_001142307, RefSeq RNA:NM_005316, UCSC Genome Browser:NM_005316, UniProtKB:P32780 No chr11 18343816 18388590 18322269 18367043 +PA29042 2966 HGNC:4656 ENSG00000145736 general transcription factor IIH subunit 2 GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa BTF2, BTF2P44, T-BTF2P44, TFIIH, p44 Yes No Comparative Toxicogenomics Database:2966, Ensembl:ENSG00000145736, GenAtlas:GTF2H2, GeneCard:GTF2H2, HGNC:HGNC:4656, HumanCyc Gene:HS07281, ModBase:Q13888, NCBI Gene:2966, OMIM:601748, RefSeq DNA:NT_006713, RefSeq Protein:NP_001506, RefSeq RNA:NM_001515, UCSC Genome Browser:NM_001515, UniProtKB:Q13888 No chr5 70330951 70363516 71035124 71109278 +PA162390406 653238 HGNC:31393 ENSG00000226259 general transcription factor IIH, polypeptide 2B (pseudogene) GTF2H2B DKFZP686M0199 Yes No Ensembl:ENSG00000226259, GeneCard:GTF2H2B, HGNC:HGNC:31393, NCBI Gene:653238, RefSeq DNA:NT_006713, RefSeq Protein:NP_001092199, RefSeq RNA:NM_001098729, RefSeq RNA:NR_033417 No chr5 69711197 69746189 70415370 70450362 +PA164720312 728340 HGNC:31394 ENSG00000183474 GTF2H2 family member C GTF2H2C general transcription factor IIH, polypeptide 2C Yes No Ensembl:ENSG00000183474, GeneCard:GTF2H2C, HGNC:HGNC:31394, NCBI Gene:728340, RefSeq DNA:NT_006713, RefSeq Protein:NP_001092198, RefSeq RNA:NM_001098728 No chr5 68856001 68888730 69560136 69592903 +PA164720349 730394 HGNC:35418 ENSG00000274675 GTF2H2 family member C, copy 2 GTF2H2C_2 general transcription factor IIH, polypeptide 2D GTF2H2D, LOC730394 Yes No Ensembl:ENSG00000274675, GeneCard:GTF2H2D, HGNC:HGNC:35418, NCBI Gene:730394, RefSeq DNA:NT_006713, RefSeq Protein:NP_001035955, RefSeq RNA:NM_001042490, UniProtKB:Q6P1K8 No chr5 965642 997974 965645 997896 +PA29043 2967 HGNC:4657 ENSG00000111358 general transcription factor IIH subunit 3 GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa BTF2, P34, TFIIH Yes No Comparative Toxicogenomics Database:2967, Ensembl:ENSG00000111358, GenAtlas:GTF2H3, GeneCard:GTF2H3, HGNC:HGNC:4657, HumanCyc Gene:HS03410, ModBase:Q13889, NCBI Gene:2967, OMIM:601750, RefSeq DNA:NT_009755, RefSeq Protein:NP_001507, RefSeq RNA:NM_001516, UCSC Genome Browser:NM_001516, UniProtKB:Q13889 No chr12 124118286 124147151 123633739 123662604 +PA29044 2968 HGNC:4658 ENSG00000213780, ENSG00000221974, ENSG00000226384, ENSG00000233149, ENSG00000234370, ENSG00000236895 general transcription factor IIH subunit 4 GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa P52, TFB2, TFIIH Yes No Comparative Toxicogenomics Database:2968, Ensembl:ENSG00000213780, Ensembl:ENSG00000221974, Ensembl:ENSG00000226384, Ensembl:ENSG00000233149, Ensembl:ENSG00000234370, Ensembl:ENSG00000236895, GenAtlas:GTF2H4, GeneCard:GTF2H4, HGNC:HGNC:4658, ModBase:Q92759, NCBI Gene:2968, OMIM:601760, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001508, RefSeq RNA:NM_001517, UCSC Genome Browser:NM_001517, UniProtKB:Q76KU4, UniProtKB:Q92759 No chr6 30875957 30881883 30908200 30914103 +PA134962077 404672 HGNC:21157 ENSG00000272047 general transcription factor IIH subunit 5 GTF2H5 """DNA repair syndrome trichothiodystrophy group A"", ""general transcription factor IIH, polypeptide 5""" C6orf175, FLJ30544, TFB5, TFIIH, TTD, TTD-A, TTDA, bA120J8.2 Yes No Comparative Toxicogenomics Database:404672, Ensembl:ENSG00000272047, GenAtlas:GTF2H5, GeneCard:GTF2H5, HGNC:HGNC:21157, ModBase:Q6ZYL4, NCBI Gene:404672, OMIM:601675, OMIM:608780, RefSeq DNA:NG_011758, RefSeq DNA:NT_025741, RefSeq Protein:NP_997001, RefSeq RNA:NM_207118, UniProtKB:Q6ZYL4 No chr6 158589379 158620376 158168316 158199344 +PA29045 2969 HGNC:4659 ENSG00000263001 general transcription factor IIi GTF2I BAP-135, BTKAP1, DIWS, IB291, SPIN, TFII-I, WBSCR6 Yes No Comparative Toxicogenomics Database:2969, Ensembl:ENSG00000263001, GenAtlas:GTF2I, GeneCard:GTF2I, HGNC:HGNC:4659, HumanCyc Gene:HS01259, ModBase:Q75M87, NCBI Gene:2969, OMIM:194050, OMIM:601679, RefSeq DNA:NG_008179, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001157108, RefSeq Protein:NP_001509, RefSeq Protein:NP_127492, RefSeq Protein:NP_127493, RefSeq Protein:NP_127494, RefSeq RNA:NM_001163636, RefSeq RNA:NM_001518, RefSeq RNA:NM_032999, RefSeq RNA:NM_033000, RefSeq RNA:NM_033001, UCSC Genome Browser:NM_001518, UniProtKB:P78347, UniProtKB:Q499G6 No chr7 74071991 74175022 74657665 74760692 +PA29046 2970 HGNC:4660 ENSG00000277053 general transcription factor IIi, pseudogene 1 GTF2IP1 Yes No Comparative Toxicogenomics Database:2970, Ensembl:ENSG00000277053, GenAtlas:GTF2IP1, GeneCard:GTF2IP1, HGNC:HGNC:4660, NCBI Gene:2970, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq RNA:NR_002206 No chr7 74601104 74653454 75185383 75237705 +PA134873575 338448 HGNC:16082 ENSG00000226930 general transcription factor IIi, pseudogene 2 GTF2IP2 Yes No Ensembl:ENSG00000226930, GeneCard:GTF2IP2, HGNC:HGNC:16082, NCBI Gene:338448 No chr21 14815675 14834792 13443352 13462471 +PA29047 9569 HGNC:4661 ENSG00000006704 GTF2I repeat domain containing 1 GTF2IRD1 binding factor for early enhancer BEN, Cream1, GTF3, MusTRD1, RBAP2, WBSCR11, WBSCR12 Yes No Comparative Toxicogenomics Database:9569, Ensembl:ENSG00000006704, GenAtlas:GTF2IRD1, GeneCard:GTF2IRD1, HGNC:HGNC:4661, HumanCyc Gene:HS00192, ModBase:Q9UHL9, NCBI Gene:9569, OMIM:194050, OMIM:604318, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001186136, RefSeq Protein:NP_005676, RefSeq Protein:NP_057412, RefSeq RNA:NM_001199207, RefSeq RNA:NM_005685, RefSeq RNA:NM_016328, UCSC Genome Browser:NM_005685, UniProtKB:Q9UHL9 No chr7 73868120 74016931 74453790 74603070 +PA162390407 84163 HGNC:30775 ENSG00000196275 GTF2I repeat domain containing 2 GTF2IRD2 transcription factor GTF2IRD2 FLJ37938, GTF2IRD2A Yes No Ensembl:ENSG00000196275, GeneCard:GTF2IRD2, HGNC:HGNC:30775, HumanCyc Gene:HS16337, ModBase:Q86WX4, ModBase:Q8ND85, NCBI Gene:84163, OMIM:608899, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_775808, RefSeq RNA:NM_173537, UniProtKB:Q86UP8 No chr7 74210483 74267872 74796144 74851576 +PA162390444 389524 HGNC:33125 ENSG00000174428 GTF2I repeat domain containing 2B GTF2IRD2B Yes No Ensembl:ENSG00000174428, GeneCard:GTF2IRD2B, HGNC:HGNC:33125, ModBase:Q6EKJ0, NCBI Gene:389524, OMIM:608900, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001003795, RefSeq RNA:NM_001003795, UniProtKB:Q6EKJ0 No chr7 74508187 74565623 75092556 75149817 +PA29048 2971 HGNC:4662 ENSG00000122034 general transcription factor IIIA GTF3A AP2, TFIIIA Yes No Comparative Toxicogenomics Database:2971, Ensembl:ENSG00000122034, GenAtlas:GTF3A, GeneCard:GTF3A, HGNC:HGNC:4662, HumanCyc Gene:HS04543, NCBI Gene:2971, OMIM:600860, RefSeq DNA:NT_024524, RefSeq Protein:NP_002088, RefSeq RNA:NM_002097, UCSC Genome Browser:NM_002097, UniProtKB:Q92664 No chr13 27998681 28009846 27424544 27435709 +PA29052 2975 HGNC:4664 ENSG00000077235 general transcription factor IIIC subunit 1 GTF3C1 general transcription factor IIIC, polypeptide 1, alpha 220kDa TFIIIC220 Yes No Comparative Toxicogenomics Database:2975, Ensembl:ENSG00000077235, GenAtlas:GTF3C1, GeneCard:GTF3C1, HGNC:HGNC:4664, HumanCyc Gene:HS01235, ModBase:Q12789, NCBI Gene:2975, OMIM:603246, RefSeq DNA:NT_010393, RefSeq Protein:NP_001511, RefSeq RNA:NM_001520, UCSC Genome Browser:NM_001520, UniProtKB:Q12789 No chr16 27471934 27561251 27460613 27549930 +PA29053 2976 HGNC:4665 ENSG00000115207 general transcription factor IIIC subunit 2 GTF3C2 general transcription factor IIIC, polypeptide 2, beta 110kDa KIAA0011, TFIIIC110 Yes No Ensembl:ENSG00000115207, GenAtlas:GTF3C2, GeneCard:GTF3C2, HGNC:HGNC:4665, HumanCyc Gene:HS03847, ModBase:Q8WUA4, NCBI Gene:2976, OMIM:604883, RefSeq DNA:NT_022184, RefSeq Protein:NP_001030598, RefSeq Protein:NP_001512, RefSeq RNA:NM_001035521, RefSeq RNA:NM_001521, UCSC Genome Browser:NM_001521, UniProtKB:Q8WUA4 No chr2 27548716 27580243 27325849 27357034 +PA29054 9330 HGNC:4666 ENSG00000119041 general transcription factor IIIC subunit 3 GTF3C3 general transcription factor IIIC, polypeptide 3, 102kDa TFIIIC102, TFiiiC2-102 Yes No Ensembl:ENSG00000119041, GenAtlas:GTF3C3, GeneCard:GTF3C3, HGNC:HGNC:4666, HumanCyc Gene:HS04272, ModBase:Q9Y5Q9, NCBI Gene:9330, OMIM:604888, RefSeq DNA:NT_005403, RefSeq Protein:NP_001193703, RefSeq Protein:NP_036218, RefSeq RNA:NM_001206774, RefSeq RNA:NM_012086, UCSC Genome Browser:NM_012086, UniProtKB:Q9Y5Q9 No chr2 197627756 197664492 196763032 196799768 +PA29055 9329 HGNC:4667 ENSG00000125484 general transcription factor IIIC subunit 4 GTF3C4 general transcription factor IIIC, polypeptide 4, 90kDa KAT12, TFIIIC90 Yes No Comparative Toxicogenomics Database:9329, Ensembl:ENSG00000125484, GenAtlas:GTF3C4, GeneCard:GTF3C4, HGNC:HGNC:4667, HumanCyc Gene:HS04893, ModBase:Q9UKN8, NCBI Gene:9329, OMIM:604892, RefSeq DNA:NT_035014, RefSeq Protein:NP_036336, RefSeq RNA:NM_012204, UCSC Genome Browser:NM_012204, UniProtKB:B3KNH2, UniProtKB:Q9UKN8 No chr9 135545728 135565471 132670035 132694955 +PA29056 9328 HGNC:4668 ENSG00000148308 general transcription factor IIIC subunit 5 GTF3C5 """general transcription factor IIIC, polypeptide 5, 63kDa"", ""transcription factor IIIC, 63 kD""" TFIIIC63, TFIIICepsilon, TFiiiC2-63 Yes No Comparative Toxicogenomics Database:9328, Ensembl:ENSG00000148308, GenAtlas:GTF3C5, GeneCard:GTF3C5, HGNC:HGNC:4668, HumanCyc Gene:HS07512, ModBase:Q9H4P2, NCBI Gene:9328, OMIM:604890, RefSeq DNA:NT_035014, RefSeq Protein:NP_001116295, RefSeq Protein:NP_036219, RefSeq RNA:NM_001122823, RefSeq RNA:NM_012087, UCSC Genome Browser:NM_012087, UniProtKB:Q9Y5Q8 No chr9 135906062 135933890 133030675 133058503 +PA162390481 112495 HGNC:20872 ENSG00000155115 general transcription factor IIIC subunit 6 GTF3C6 general transcription factor IIIC, polypeptide 6, alpha 35kDa C6orf51, TFIIIC35, bA397G5.3 Yes No Ensembl:ENSG00000155115, GeneCard:GTF3C6, HGNC:HGNC:20872, HumanCyc Gene:HS14555, NCBI Gene:112495, OMIM:611784, RefSeq DNA:NT_025741, RefSeq Protein:NP_612417, RefSeq RNA:NM_138408, UniProtKB:Q969F1 No chr6 111279763 111289091 110958560 110967888 +PA29057 9567 HGNC:4669 ENSG00000100226 GTP binding protein 1 GTPBP1 GP-1, HSPC018 Yes No Comparative Toxicogenomics Database:9567, Ensembl:ENSG00000100226, GenAtlas:GTPBP1, GeneCard:GTPBP1, HGNC:HGNC:4669, HumanCyc Gene:HS02009, ModBase:O00178, NCBI Gene:9567, OMIM:602245, RefSeq DNA:NT_011520, RefSeq Protein:NP_004277, RefSeq RNA:NM_004286, UCSC Genome Browser:NM_004286, UniProtKB:O00178 No chr22 39101733 39129592 38704561 38738265 +PA162390482 85865 HGNC:25106 ENSG00000105793 GTP binding protein 10 GTPBP10 GTP-binding protein 10 (putative) DKFZP686A10121, FLJ38242, OBGH2 Yes No Ensembl:ENSG00000105793, GeneCard:GTPBP10, HGNC:HGNC:25106, HumanCyc Gene:HS12610, ModBase:A4D1E9, NCBI Gene:85865, OMIM:610920, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001036182, RefSeq Protein:NP_149098, RefSeq RNA:NM_001042717, RefSeq RNA:NM_033107, UniProtKB:A4D1E9 No chr7 89975341 90020769 90346665 90391455 +PA29058 54676 HGNC:4670 ENSG00000172432 GTP binding protein 2 GTPBP2 Yes No Comparative Toxicogenomics Database:54676, Ensembl:ENSG00000172432, GenAtlas:GTPBP2, GeneCard:GTPBP2, HGNC:HGNC:4670, HumanCyc Gene:HS10515, ModBase:Q9BX10, NCBI Gene:54676, OMIM:607434, RefSeq DNA:NT_007592, RefSeq Protein:NP_061969, RefSeq RNA:NM_019096, UCSC Genome Browser:NM_019096, UniProtKB:Q9BX10 No chr6 43588218 43596977 43620481 43629246 +PA134883205 84705 HGNC:14880 ENSG00000130299 GTP binding protein 3, mitochondrial GTPBP3 GTP binding protein 3 (mitochondrial) FLJ14700, GTPBG3, MSS1, MTGP1, THDF1 Yes No Comparative Toxicogenomics Database:84705, Ensembl:ENSG00000130299, GeneCard:GTPBP3, HGNC:HGNC:14880, HumanCyc Gene:HS05366, ModBase:Q969Y2, NCBI Gene:84705, OMIM:608536, RefSeq DNA:NT_011295, RefSeq Protein:NP_001122327, RefSeq Protein:NP_001182351, RefSeq Protein:NP_116009, RefSeq Protein:NP_598399, RefSeq RNA:NM_001128855, RefSeq RNA:NM_001195422, RefSeq RNA:NM_032620, RefSeq RNA:NM_133644, UniProtKB:A6NFH1, UniProtKB:Q969Y2 No chr19 17445735 17453540 17334982 17342731 +PA134922009 23560 HGNC:21535 ENSG00000107937 GTP binding protein 4 GTPBP4 G protein-binding protein CRFG, GTP-binding protein CRFG, FLJ10686, FLJ10690, NGB, NOG1 Yes No Comparative Toxicogenomics Database:23560, Ensembl:ENSG00000107937, GeneCard:GTPBP4, HGNC:HGNC:21535, HumanCyc Gene:HS03046, ModBase:Q9BZE4, NCBI Gene:23560, RefSeq DNA:NT_008705, RefSeq Protein:NP_036473, RefSeq RNA:NM_012341, UniProtKB:D2CFK9, UniProtKB:Q9BZE4 No chr10 1034349 1063708 988409 1017768 +PA128394538 8225 HGNC:30189 ENSG00000178605 GTP binding protein 6 (putative) GTPBP6 pseudoautosomal GTP binding protein-like FLJ20977, PGPL Yes No Comparative Toxicogenomics Database:8225, Ensembl:ENSG00000178605, GeneCard:GTPBP6, HGNC:HGNC:30189, ModBase:O43824, NCBI Gene:8225, OMIM:300124, RefSeq DNA:NT_167192, RefSeq DNA:NT_167200, RefSeq Protein:NP_036359, RefSeq RNA:NM_012227, UCSC Genome Browser:NM_012227 No chrX 221426 230887 304750 318819 +PA142671705 29083 HGNC:25007 ENSG00000163607 GTP binding protein 8 GTPBP8 GTP binding protein 8 (putative), GTP-binding protein 8 (putative) HSPC135 Yes No Comparative Toxicogenomics Database:29083, Ensembl:ENSG00000163607, GeneCard:GTPBP8, HGNC:HGNC:25007, HumanCyc Gene:HS15085, ModBase:Q8N3Z3, NCBI Gene:29083, RefSeq DNA:NT_005612, RefSeq Protein:NP_054889, RefSeq Protein:NP_612494, RefSeq RNA:NM_014170, RefSeq RNA:NM_138485, UniProtKB:Q8N3Z3, UniProtKB:Q9P025 No chr3 112709323 112720221 112989275 113001966 +PA134887935 220158 HGNC:18406 ENSG00000263417 Gilles de la Tourette syndrome chromosome region, candidate 1 GTSCR1 Yes No Ensembl:ENSG00000263417, GeneCard:GTSCR1, HGNC:HGNC:18406, NCBI Gene:220158, RefSeq DNA:NT_025028, RefSeq Protein:XP_496277, RefSeq Protein:XP_941571, RefSeq RNA:XM_496277, RefSeq RNA:XM_936478 No chr18 68297755 68318093 70630519 70650857 +PA29061 51512 HGNC:13698 ENSG00000075218 G2 and S-phase expressed 1 GTSE1 G-2 and S-phase expressed 1 B99, GTSE-1, Lnc_bc060912 Yes No Comparative Toxicogenomics Database:51512, Ensembl:ENSG00000075218, GenAtlas:GTSE1, GeneCard:GTSE1, HGNC:HGNC:13698, HumanCyc Gene:HS01165, ModBase:Q9Y557, NCBI Gene:51512, OMIM:607477, RefSeq DNA:NT_011520, RefSeq Protein:NP_057510, RefSeq RNA:NM_016426, UCSC Genome Browser:NM_016426, UniProtKB:Q9NYZ3 No chr22 46692638 46729596 46295879 46333699 +PA162390507 121355 HGNC:26565 ENSG00000170627 gametocyte specific factor 1 GTSF1 asterix Cue110, FAM112B, FLJ32942 Yes No Ensembl:ENSG00000170627, GeneCard:GTSF1, HGNC:HGNC:26565, HumanCyc Gene:HS15903, NCBI Gene:121355, RefSeq DNA:NT_029419, RefSeq Protein:NP_653195, RefSeq RNA:NM_144594, UniProtKB:Q8WW33 No chr12 54849736 54867386 54455952 54473602 +PA25775 149699 HGNC:16198 ENSG00000124196 gametocyte specific factor 1 like GTSF1L gametocyte specific factor 1-like C20orf65, FAM112A, dJ1028D15.4 Yes No Ensembl:ENSG00000124196, GenAtlas:FAM112A, GeneCard:FAM112A, GeneCard:GTSF1L, HGNC:HGNC:16198, NCBI Gene:149699, RefSeq DNA:NT_011362, RefSeq Protein:NP_001008901, RefSeq Protein:NP_789761, RefSeq RNA:NM_001008901, RefSeq RNA:NM_176791, UCSC Genome Browser:NM_176791, UniProtKB:Q5JWH5, UniProtKB:Q9H1H1 No chr20 42354801 42355647 43726161 43727135 +PA29062 2978 HGNC:4678 ENSG00000048545 guanylate cyclase activator 1A GUCA1A cone dystrophy 3, guanylate cyclase activator 1A (retina) C6orf131, COD3, CORD14, GCAP, GCAP-1, GCAP-I, GCAP1, GUCA, GUCA1, dJ139D8.6 Yes No Comparative Toxicogenomics Database:2978, Ensembl:ENSG00000048545, GenAtlas:GUCA1A, GeneCard:GUCA1A, HGNC:HGNC:4678, HumanCyc Gene:HS00606, ModBase:P43080, NCBI Gene:2978, OMIM:600364, OMIM:602093, RefSeq DNA:NG_009938, RefSeq DNA:NT_007592, RefSeq Protein:NP_000400, RefSeq RNA:NM_000409, UCSC Genome Browser:NM_000409, UniProtKB:P43080 No chr6 42123144 42147794 42155377 42180083 +PA29063 2979 HGNC:4679 ENSG00000112599 guanylate cyclase activator 1B GUCA1B guanylate cyclase activator 1B (retina) GCAP-2, GCAP-II, GCAP2, RP48 Yes No Comparative Toxicogenomics Database:2979, Ensembl:ENSG00000112599, GenAtlas:GUCA1B, GeneCard:GUCA1B, HGNC:HGNC:4679, HumanCyc Gene:HS03594, ModBase:Q9UMX6, NCBI Gene:2979, OMIM:602275, RefSeq DNA:NG_016216, RefSeq DNA:NT_007592, RefSeq Protein:NP_002089, RefSeq RNA:NM_002098, UCSC Genome Browser:NM_002098, UniProtKB:Q7Z3V9, UniProtKB:Q9UMX6 No chr6 42151022 42162694 42183284 42194956 +PA29064 9626 HGNC:4680 ENSG00000138472 guanylate cyclase activator 1C GUCA1C guanylyl cyclase-activating protein 3 GCAP3 Yes No Ensembl:ENSG00000138472, GenAtlas:GUCA1C, GeneCard:GUCA1C, HGNC:HGNC:4680, HumanCyc Gene:HS06511, ModBase:O95843, NCBI Gene:9626, OMIM:605128, RefSeq DNA:NT_005612, RefSeq Protein:NP_005450, RefSeq RNA:NM_005459, UCSC Genome Browser:NM_005459, UniProtKB:O95843 No chr3 108626491 108672742 108907644 108955195 +PA29065 2980 HGNC:4682 ENSG00000197273 guanylate cyclase activator 2A GUCA2A guanylate cyclase activator 2A (guanylin), prepro-guanylin GUCA2, STARA Yes No Ensembl:ENSG00000197273, GenAtlas:GUCA2A, GeneCard:GUCA2A, HGNC:HGNC:4682, NCBI Gene:2980, OMIM:139392, RefSeq DNA:NT_032977, RefSeq Protein:NP_291031, RefSeq RNA:NM_033553, UniProtKB:Q02747 No chr1 42628362 42630395 42162691 42164724 +PA29066 2981 HGNC:4683 ENSG00000044012 guanylate cyclase activator 2B GUCA2B guanylate cyclase activator 2B (uroguanylin), prepro-uroguanylin Yes No Comparative Toxicogenomics Database:2981, Ensembl:ENSG00000044012, GenAtlas:GUCA2B, GeneCard:GUCA2B, HGNC:HGNC:4683, HumanCyc Gene:HS00574, ModBase:Q16661, NCBI Gene:2981, OMIM:601271, RefSeq DNA:NT_032977, RefSeq Protein:NP_009033, RefSeq RNA:NM_007102, UCSC Genome Browser:NM_007102, UniProtKB:Q16661 No chr1 42619092 42621495 42153421 42155824 +PA25882 83606 HGNC:14237 ENSG00000138867 guanylyl cyclase domain containing 1 GUCD1 C22orf13, LLN4, MGC1842 Yes No Ensembl:ENSG00000138867, GenAtlas:C22orf13, GeneCard:C22orf13, HGNC:HGNC:14237, ModBase:Q96NT3, NCBI Gene:83606, RefSeq DNA:NT_011520, RefSeq Protein:NP_113632, RefSeq RNA:NM_031444, UniProtKB:Q96NT3 No chr22 24936406 24951901 24540423 24555935 +PA29067 2982 HGNC:4685 ENSG00000164116 guanylate cyclase 1 soluble subunit alpha 1 GUCY1A1 guanylate cyclase 1, soluble, alpha 3 GC-SA3, GUC1A3, GUCY1A3 Yes No Comparative Toxicogenomics Database:2982, Ensembl:ENSG00000164116, GenAtlas:GUCY1A3, GeneCard:GUCY1A3, HGNC:HGNC:4685, HumanCyc Gene:HS09019, ModBase:Q02108, NCBI Gene:2982, OMIM:139396, RefSeq DNA:NT_016354, RefSeq Protein:NP_000847, RefSeq Protein:NP_001124154, RefSeq Protein:NP_001124155, RefSeq Protein:NP_001124156, RefSeq Protein:NP_001124157, RefSeq Protein:NP_001124158, RefSeq Protein:NP_001124159, RefSeq RNA:NM_000856, RefSeq RNA:NM_001130682, RefSeq RNA:NM_001130683, RefSeq RNA:NM_001130684, RefSeq RNA:NM_001130685, RefSeq RNA:NM_001130686, RefSeq RNA:NM_001130687, UCSC Genome Browser:NM_000856, UniProtKB:B3KU69, UniProtKB:D6RDW3, UniProtKB:Q02108 No chr4 156587862 156658214 155666710 155737062 +PA186 2977 HGNC:4684 ENSG00000152402 guanylate cyclase 1 soluble subunit alpha 2 GUCY1A2 guanylate cyclase 1, soluble, alpha 2 GC-SA2, GUC1A2 Yes No Ensembl:ENSG00000152402, GenAtlas:GUCY1A2, GeneCard:GUCY1A2, HGNC:HGNC:4684, HumanCyc Gene:HS07810, ModBase:P33402, NCBI Gene:2977, OMIM:601244, RefSeq DNA:NT_033899, RefSeq Protein:NP_000846, RefSeq RNA:NM_000855, UCSC Genome Browser:NM_000855, UniProtKB:P33402 No chr11 106544738 106889171 106674012 107018445 +PA29068 2983 HGNC:4687 ENSG00000061918 guanylate cyclase 1 soluble subunit beta 1 GUCY1B1 guanylate cyclase 1, soluble, beta 3 GC-S-beta-1, GC-SB3, GUC1B3, GUCY1B3 Yes No Comparative Toxicogenomics Database:2983, Ensembl:ENSG00000061918, GenAtlas:GUCY1B3, GeneCard:GUCY1B3, HGNC:HGNC:4687, HumanCyc Gene:HS00761, ModBase:Q02153, NCBI Gene:2983, OMIM:139397, RefSeq DNA:NT_016354, RefSeq Protein:NP_000848, RefSeq RNA:NM_000857, UCSC Genome Browser:NM_000857, UniProtKB:Q02153 No chr4 156680126 156728783 155758973 155807642 +PA185 2974 HGNC:4686 ENSG00000123201 guanylate cyclase 1, soluble, beta 2 (pseudogene) GUCY1B2 GC-SB2 Yes No Ensembl:ENSG00000123201, GenAtlas:GUCY1B2, GeneCard:GUCY1B2, HGNC:HGNC:4686, HumanCyc Gene:HS04641, ModBase:O75343, NCBI Gene:2974, OMIM:603695, RefSeq DNA:NT_024524, RefSeq RNA:NR_003923, UCSC Genome Browser:NM_004129 No chr13 51568647 51640293 50994511 51066157 +PA29069 2984 HGNC:4688 ENSG00000070019 guanylate cyclase 2C GUCY2C Guanylyl cyclase C, STA receptor, guanylate cyclase 2C (heat stable enterotoxin receptor), heat stable enterotoxin receptor GC-C, GCC, GUC2C, HSER, STAR Yes No Comparative Toxicogenomics Database:2984, Ensembl:ENSG00000070019, GenAtlas:GUCY2C, GeneCard:GUCY2C, HGNC:HGNC:4688, HumanCyc Gene:HS00979, ModBase:P25092, NCBI Gene:2984, OMIM:601330, RefSeq DNA:NT_009714, RefSeq Protein:NP_004954, RefSeq RNA:NM_004963, UCSC Genome Browser:NM_004963, UniProtKB:P25092 No chr12 14765566 14849519 14612632 14696625 +PA187 3000 HGNC:4689 ENSG00000132518 guanylate cyclase 2D, retinal GUCY2D """Leber congenital amaurosis 1"", ""guanylate cyclase 2D, membrane (retina-specific)"", ""retinal guanylate cyclase 1"", ""rod outer segment membrane guanylate cyclase""" CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RETGC-1, ROS-GC, ROS-GC1, retGC Yes No Comparative Toxicogenomics Database:3000, Ensembl:ENSG00000132518, GenAtlas:GUCY2D, GeneCard:GUCY2D, HGNC:HGNC:4689, HumanCyc Gene:HS05649, ModBase:Q02846, NCBI Gene:3000, OMIM:204000, OMIM:600179, OMIM:600977, OMIM:601777, RefSeq DNA:NG_009092, RefSeq DNA:NT_010718, RefSeq Protein:NP_000171, RefSeq RNA:NM_000180, UCSC Genome Browser:NM_000180, UniProtKB:Q02846 No chr17 7905988 7923658 8002670 8020340 +PA29070 390226 HGNC:4690 ENSG00000204529 guanylate cyclase 2E, pseudogene GUCY2EP GC-E Yes No Comparative Toxicogenomics Database:390226, Ensembl:ENSG00000204529, GenAtlas:GUCY2E, GeneCard:GUCY2EP, HGNC:HGNC:4690, NCBI Gene:390226, OMIM:601138, RefSeq DNA:NT_167190, RefSeq RNA:NR_024042 No chr11 76391210 76432833 76680166 76721789 +PA29071 2986 HGNC:4691 ENSG00000101890 guanylate cyclase 2F, retinal GUCY2F guanylate cyclase 2D-like, membrane (retina-specific) CYGF, GC-F, GUC2DL, ROS-GC2, RetGC-2 Yes No Comparative Toxicogenomics Database:2986, Ensembl:ENSG00000101890, GenAtlas:GUCY2F, GeneCard:GUCY2F, HGNC:HGNC:4691, HumanCyc Gene:HS02314, ModBase:P51841, NCBI Gene:2986, OMIM:300041, RefSeq DNA:NG_009175, RefSeq DNA:NT_011651, RefSeq Protein:NP_001513, RefSeq RNA:NM_001522, UCSC Genome Browser:NM_001522, UniProtKB:P51841 No chrX 108616135 108725285 109372061 109482056 +PA162390535 390003 HGNC:31863 ENSG00000243316 guanylate cyclase 2G, pseudogene GUCY2GP Yes No Ensembl:ENSG00000243316, HGNC:HGNC:31863, NCBI Gene:390003, RefSeq DNA:NG_009698, RefSeq DNA:NT_030059, RefSeq DNA:NT_030059.12, RefSeq Protein:XP_001718486, RefSeq Protein:XP_001718486.1, RefSeq Protein:XP_001732892, RefSeq Protein:XP_001732892.1, RefSeq Protein:XP_001732893, RefSeq Protein:XP_001732893.1, RefSeq RNA:NR_028134, RefSeq RNA:XM_001718434, RefSeq RNA:XM_001718434.1, RefSeq RNA:XM_001732840, RefSeq RNA:XM_001732840.1, RefSeq RNA:XM_001732841, RefSeq RNA:XM_001732841.1 No chr10 114067936 114116353 112308178 112356595 +PA143485485 60558 HGNC:25799 ENSG00000151806 GTP binding elongation factor GUF1 GUF1 """GUF1 GTPase homolog (S. cerevisiae)"", ""GUF1 homolog, GTPase""" FLJ13220 Yes No Comparative Toxicogenomics Database:60558, Ensembl:ENSG00000151806, GeneCard:GUF1, HGNC:HGNC:25799, ModBase:Q8N442, NCBI Gene:60558, RefSeq DNA:NT_006238, RefSeq Protein:NP_068746, RefSeq RNA:NM_021927, UniProtKB:Q8N442 No chr4 44680433 44702944 44678395 44700685 +PA29072 2987 HGNC:4693 ENSG00000143774 guanylate kinase 1 GUK1 Yes No Comparative Toxicogenomics Database:2987, Ensembl:ENSG00000143774, GenAtlas:GUK1, GeneCard:GUK1, HGNC:HGNC:4693, HumanCyc Gene:HS07104, ModBase:Q16774, NCBI Gene:2987, OMIM:139270, RefSeq DNA:NT_167186, RefSeq Protein:NP_000849, RefSeq Protein:NP_001152862, RefSeq Protein:NP_001152863, RefSeq Protein:NP_001229768, RefSeq Protein:NP_001229769, RefSeq RNA:NM_000858, RefSeq RNA:NM_001159390, RefSeq RNA:NM_001159391, RefSeq RNA:NM_001242839, RefSeq RNA:NM_001242840, UCSC Genome Browser:NM_000858, UniProtKB:B4E1H6, UniProtKB:Q16774, UniProtKB:Q6IBG8 No chr1 228327668 228336656 228139643 228148955 +PA29073 2988 HGNC:4694 guanylate kinase 2 GUK2 Yes No GenAtlas:GUK2, GeneCard:GUK2, HGNC:HGNC:4694, NCBI Gene:2988, OMIM:139280 No chr1 +PA29074 2989 HGNC:4695 ENSG00000234770 gulonolactone (L-) oxidase, pseudogene GULOP GULO, scurvy Yes No Comparative Toxicogenomics Database:2989, Ensembl:ENSG00000234770, GenAtlas:GULOP, GeneCard:GULOP, HGNC:HGNC:4695, NCBI Gene:2989, OMIM:240400, RefSeq DNA:NG_001136, RefSeq DNA:NT_167187 No chr8 27435128 27446590 27577611 27589073 +PA134993283 51454 HGNC:18649 ENSG00000144366 GULP PTB domain containing engulfment adaptor 1 GULP1 GULP, engulfment adaptor PTB domain containing 1 CED-6, CED6, GULP Yes No Comparative Toxicogenomics Database:51454, Ensembl:ENSG00000144366, GeneCard:GULP1, HGNC:HGNC:18649, HumanCyc Gene:HS07169, ModBase:Q9UBP9, NCBI Gene:51454, OMIM:608165, RefSeq DNA:NT_005403, RefSeq Protein:NP_057399, RefSeq RNA:NM_016315, UniProtKB:Q9UBP9 No chr2 189156396 189460653 188291669 188595926 +PA29075 2990 HGNC:4696 ENSG00000169919 glucuronidase beta GUSB glucuronidase, beta Yes No Comparative Toxicogenomics Database:2990, Ensembl:ENSG00000169919, GenAtlas:GUSB, GeneCard:GUSB, HGNC:HGNC:4696, HumanCyc Gene:HS10035, ModBase:P08236, NCBI Gene:2990, OMIM:253220, OMIM:611499, RefSeq DNA:NG_016197, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_000172, RefSeq RNA:NM_000181, UCSC Genome Browser:NM_000181, UniProtKB:P08236 No chr7 65425671 65447301 65960684 65982314 +PA147357981 728411 HGNC:13670 ENSG00000183666 glucuronidase, beta pseudogene 1 GUSBP1 Yes No Ensembl:ENSG00000183666, GeneCard:GUSBP1, HGNC:HGNC:13670, ModBase:Q15486, NCBI Gene:728411, RefSeq DNA:NG_008324, RefSeq DNA:NT_006576, RefSeq RNA:NR_027026, RefSeq RNA:NR_027027, RefSeq RNA:NR_027028 No chr5 21459589 21589481 21459480 21589372 +PA134983339 387036 HGNC:18792 ENSG00000241549 glucuronidase, beta pseudogene 2 GUSBP2 SMA3-L, SMAC3L, bA239L20.1, bA239L20.5, bGLU-Lp Yes No Ensembl:ENSG00000241549, GeneCard:GUSBP2, HGNC:HGNC:18792, ModBase:Q9NQQ0, NCBI Gene:387036, RefSeq DNA:NT_007592, RefSeq RNA:NR_003504 No chr6 26839266 26924333 26871487 26956554 +PA134964286 375513 HGNC:18220 ENSG00000239650 glucuronidase, beta pseudogene 4 GUSBP4 FLJ13549, SMA3-L Yes No Ensembl:ENSG00000239650, GeneCard:GUSBP4, HGNC:HGNC:18220, NCBI Gene:375513, RefSeq DNA:NT_007592, RefSeq RNA:NR_003660 No chr6 58246159 58287724 57908553 57936929 +PA142671703 387751 HGNC:25813 ENSG00000254838 GTPase, very large interferon inducible pseudogene 1 GVINP1 very large inducible GTPase 1 FLJ13373, VLIG-1, VLIG1 Yes No Ensembl:ENSG00000254838, GeneCard:GVINP1, HGNC:HGNC:25813, NCBI Gene:387751, RefSeq DNA:NT_009237, RefSeq RNA:NR_003945 No chr11 6734370 6743110 6713139 6721879 +PA166351831 HGNC:31424 GVQW motif containing 1 GVQW1 TIGD1L2, bA205M20.5 Yes No HGNC:HGNC:31424 No 0 0 0 0 +PA166181541 100506127 HGNC:51239 ENSG00000179240 GVQW motif containing 3 GVQW3 Yes No Ensembl:ENSG00000179240, HGNC:HGNC:51239, NCBI Gene:100506127 No 0 0 0 0 +PA165512868 283464 HGNC:27482 ENSG00000151233 glucoside xylosyltransferase 1 GXYLT1 FLJ43151, GLT8D3 Yes No Ensembl:ENSG00000151233, GeneCard:GXYLT1, HGNC:HGNC:27482, NCBI Gene:283464, OMIM:613321, RefSeq DNA:NT_029419, RefSeq Protein:NP_001093120, RefSeq Protein:NP_775872, RefSeq RNA:NM_001099650, RefSeq RNA:NM_173601, RefSeq RNA:XM_290597, RefSeq RNA:XM_936720, UniProtKB:Q4G148 No chr12 42475647 42538673 42081845 42144871 +PA165697418 727936 HGNC:33383 ENSG00000172986 glucoside xylosyltransferase 2 GXYLT2 GLT8D4 Yes No Ensembl:ENSG00000172986, GeneCard:GXYLT2, HGNC:HGNC:33383, ModBase:A0PJZ3, NCBI Gene:727936, OMIM:613322, RefSeq DNA:NT_022459, RefSeq DNA:NT_022459.14, RefSeq Protein:NP_001073862, RefSeq RNA:NM_001080393, RefSeq RNA:NM_001080393.1, UniProtKB:A0PJZ3 No chr3 72937385 73024525 72848522 72975374 +PA29077 2992 HGNC:4699 ENSG00000163754 glycogenin 1 GYG1 glycogenin glucosyltransferase GYG Yes No Comparative Toxicogenomics Database:2992, Ensembl:ENSG00000163754, GenAtlas:GYG1, GeneCard:GYG1, HGNC:HGNC:4699, HumanCyc Gene:HS08931, ModBase:P46976, NCBI Gene:2992, OMIM:603942, RefSeq DNA:NT_005612, RefSeq Protein:NP_001171649, RefSeq Protein:NP_001171650, RefSeq Protein:NP_004121, RefSeq RNA:NM_001184720, RefSeq RNA:NM_001184721, RefSeq RNA:NM_004130, UCSC Genome Browser:NM_004130, UniProtKB:P46976 No chr3 148709195 148745456 148991408 149027669 +PA29078 8908 HGNC:4700 ENSG00000056998 glycogenin 2 GYG2 glycogenin glucosyltransferase GN-2 Yes No Ensembl:ENSG00000056998, GenAtlas:GYG2, GeneCard:GYG2, HGNC:HGNC:4700, HumanCyc Gene:HS00703, ModBase:O15488, NCBI Gene:8908, OMIM:300198, RefSeq DNA:NG_021257, RefSeq DNA:NT_167197, RefSeq Protein:NP_001073324, RefSeq Protein:NP_001171631, RefSeq Protein:NP_001171632, RefSeq Protein:NP_001171633, RefSeq Protein:NP_003909, RefSeq RNA:NM_001079855, RefSeq RNA:NM_001184702, RefSeq RNA:NM_001184703, RefSeq RNA:NM_001184704, RefSeq RNA:NM_003918, UCSC Genome Browser:NM_003918, UniProtKB:A6NKP3, UniProtKB:O15488 No chrX 2746863 2800861 2828712 2882820 +PA29079 352887 HGNC:4701 ENSG00000206159 glycogenin 2 pseudogene 1 GYG2P1 Yes No Ensembl:ENSG00000206159, GenAtlas:GYG2P, GeneCard:GYG2P1, HGNC:HGNC:4701, NCBI Gene:352887, RefSeq DNA:NG_002811, RefSeq DNA:NT_011875, RefSeq RNA:NR_033667 No chrY 14517915 14533389 12406116 12421590 +PA29080 2993 HGNC:4702 ENSG00000170180 glycophorin A (MNS blood group) GYPA MN sialoglycoprotein, glycophorinA, sialoglycoprotein alpha CD235a, GPA, MN, MNS, PAS-2 Yes No Comparative Toxicogenomics Database:2993, Ensembl:ENSG00000170180, GenAtlas:GYPA, GeneCard:GYPA, HGNC:HGNC:4702, HumanCyc Gene:HS10079, NCBI Gene:2993, OMIM:111300, OMIM:611162, RefSeq DNA:NG_007470, RefSeq DNA:NT_016354, RefSeq Protein:NP_002090, RefSeq RNA:NM_002099, UCSC Genome Browser:NM_002099, UniProtKB:P02724 No chr4 145030456 145061904 144109303 144140854 +PA29081 2994 HGNC:4703 ENSG00000250361 glycophorin B (MNS blood group) GYPB Sialoglycoprotein delta, Ss sialoglycoprotein CD235b, GPB, MNS, PAS-3, SS Yes No Ensembl:ENSG00000250361, GenAtlas:GYPB, GeneCard:GYPB, HGNC:HGNC:4703, ModBase:P06028, NCBI Gene:2994, OMIM:111740, RefSeq DNA:NG_007483, RefSeq DNA:NT_016354, RefSeq Protein:NP_002091, RefSeq RNA:NM_002100, UCSC Genome Browser:NM_002100, UniProtKB:P06028 No chr4 144917257 144940498 143995172 144021860 +PA29082 2995 HGNC:4704 ENSG00000136732 glycophorin C (Gerbich blood group) GYPC Gerbich antigen, glycophorin D, sialoglycoprotein D CD236, CD236R, GPC, GPD, GYPD, Ge Yes No Comparative Toxicogenomics Database:2995, Ensembl:ENSG00000136732, GenAtlas:GYPC, GeneCard:GYPC, HGNC:HGNC:4704, HumanCyc Gene:HS06205, NCBI Gene:2995, OMIM:110750, OMIM:611162, RefSeq DNA:NG_007479, RefSeq DNA:NT_022135, RefSeq Protein:NP_002092, RefSeq Protein:NP_058131, RefSeq RNA:NM_002101, RefSeq RNA:NM_016815, UCSC Genome Browser:NM_002101, UniProtKB:P04921 No chr2 127413426 127454251 126655935 126696675 +PA29083 2996 HGNC:4705 ENSG00000197465 glycophorin E (MNS blood group) GYPE GPE, MNS Yes No Comparative Toxicogenomics Database:2996, Ensembl:ENSG00000197465, GenAtlas:GYPE, GeneCard:GYPE, HGNC:HGNC:4705, ModBase:P15421, NCBI Gene:2996, OMIM:138590, RefSeq DNA:NG_009173, RefSeq DNA:NT_016354, RefSeq Protein:NP_002093, RefSeq Protein:NP_941391, RefSeq RNA:NM_002102, RefSeq RNA:NM_198682, UCSC Genome Browser:NM_002102, UniProtKB:P15421 No chr4 144792019 144826716 143870866 143912291 +PA29084 2997 HGNC:4706 ENSG00000104812 glycogen synthase 1 GYS1 glycogen synthase 1 (muscle) GSY, GYS Yes No Comparative Toxicogenomics Database:2997, Ensembl:ENSG00000104812, GenAtlas:GYS1, GeneCard:GYS1, HGNC:HGNC:4706, HumanCyc Gene:HS02622, ModBase:P13807, NCBI Gene:2997, OMIM:138570, OMIM:611556, RefSeq DNA:NG_012923, RefSeq DNA:NT_011109, RefSeq Protein:NP_001155059, RefSeq Protein:NP_002094, RefSeq RNA:NM_001161587, RefSeq RNA:NM_002103, RefSeq RNA:NR_027763, UCSC Genome Browser:NM_002103, UniProtKB:P13807, UniProtKB:Q9BTT9 No chr19 49471382 49496610 48968125 48993353 +PA29085 2998 HGNC:4707 ENSG00000111713 glycogen synthase 2 GYS2 glycogen synthase 2 (liver) Yes No Comparative Toxicogenomics Database:2998, Ensembl:ENSG00000111713, GenAtlas:GYS2, GeneCard:GYS2, HGNC:HGNC:4707, HumanCyc Gene:HS03451, ModBase:P54840, NCBI Gene:2998, OMIM:138571, OMIM:240600, RefSeq DNA:NG_016167, RefSeq DNA:NT_009714, RefSeq Protein:NP_068776, RefSeq RNA:NM_021957, UCSC Genome Browser:NM_021957, UniProtKB:P54840 No chr12 21684461 21783722 21536189 21604858 +PA162390561 64412 HGNC:15808 ENSG00000125812 GDNF inducible zinc finger protein 1 GZF1 GDNF-inducible zinc finger protein 1 ZBTB23, ZNF336, dJ322G13.2 Yes No Ensembl:ENSG00000125812, GeneCard:GZF1, HGNC:HGNC:15808, HumanCyc Gene:HS04936, ModBase:Q9H116, NCBI Gene:64412, RefSeq DNA:NT_011387, RefSeq Protein:NP_071927, RefSeq RNA:NM_022482, UniProtKB:B3KPL4, UniProtKB:Q9H116 No chr20 23342769 23353683 23361585 23373062 +PA29086 3001 HGNC:4708 ENSG00000145649 granzyme A GZMA """CTL tryptase"", ""Cytotoxic T-lymphocyte-associated serine esterase-3"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"", ""Hanukah factor serine protease)"", ""granzyme 1"", ""granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)""" CTLA3, HFSP Yes No Comparative Toxicogenomics Database:3001, Ensembl:ENSG00000145649, GenAtlas:GZMA, GeneCard:GZMA, HGNC:HGNC:4708, HumanCyc Gene:HS07268, ModBase:P12544, NCBI Gene:3001, OMIM:140050, RefSeq DNA:NT_006713, RefSeq Protein:NP_006135, RefSeq RNA:NM_006144, UCSC Genome Browser:NM_006144, UniProtKB:P12544 No chr5 54398474 54406080 55102646 55110252 +PA29087 3002 HGNC:4709 ENSG00000100453 granzyme B GZMB """T-cell serine protease 1-3E"", ""cathepsin G-like 1"", ""cytotoxic T-lymphocyte-associated serine esterase 1"", ""cytotoxic serine protease B"", ""fragmentin 2"", ""granzyme 2"", ""granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)""" CCPI, CGL-1, CGL1, CSP-B, CSPB, CTLA1, CTSGL1, HLP, SECT Yes No Comparative Toxicogenomics Database:3002, Ensembl:ENSG00000100453, GenAtlas:GZMB, GeneCard:GZMB, HGNC:HGNC:4709, HumanCyc Gene:HS02090, ModBase:P10144, NCBI Gene:3002, OMIM:123910, RefSeq DNA:NT_026437, RefSeq Protein:NP_004122, RefSeq RNA:NM_004131, UCSC Genome Browser:NM_004131, UniProtKB:Q67BC3 No chr14 25100160 25103490 24630954 24634226 +PA29088 2999 HGNC:4710 ENSG00000100450 granzyme H GZMH """cathepsin G-like 2, protein h-CCPX"", ""granzyme H (cathepsin G-like 2, protein h-CCPX)""" CCP-X, CGL-2, CSP-C, CTLA1, CTSGL2 Yes No Ensembl:ENSG00000100450, GenAtlas:GZMH, GeneCard:GZMH, HGNC:HGNC:4710, ModBase:P20718, NCBI Gene:2999, OMIM:116831, RefSeq DNA:NT_026437, RefSeq Protein:NP_219491, RefSeq RNA:NM_033423, UCSC Genome Browser:NM_033423, UniProtKB:P20718 No chr14 25075686 25078926 24606480 24609763 +PA29089 3003 HGNC:4711 ENSG00000113088 granzyme K GZMK granzyme K (granzyme 3; tryptase II), tryptase II PRSS, TRYP2 Yes No Comparative Toxicogenomics Database:3003, Ensembl:ENSG00000113088, GenAtlas:GZMK, GeneCard:GZMK, HGNC:HGNC:4711, HumanCyc Gene:HS03647, ModBase:P49863, NCBI Gene:3003, OMIM:600784, RefSeq DNA:NT_006713, RefSeq Protein:NP_002095, RefSeq RNA:NM_002104, UCSC Genome Browser:NM_002104, UniProtKB:P49863 No chr5 54320107 54329960 55024279 55034132 +PA29090 3004 HGNC:4712 ENSG00000197540 granzyme M GZMM granzyme M (lymphocyte met-ase 1), lymphocyte met-ase 1 LMET1, MET1 Yes No Comparative Toxicogenomics Database:3004, Ensembl:ENSG00000197540, GenAtlas:GZMM, GeneCard:GZMM, HGNC:HGNC:4712, HumanCyc Gene:HS01912, ModBase:P51124, NCBI Gene:3004, OMIM:600311, RefSeq DNA:NT_011255, RefSeq Protein:NP_005308, RefSeq RNA:NM_005317, UCSC Genome Browser:NM_005317, UniProtKB:P51124 No chr19 544034 549920 544034 549920 +PA29092 3005 HGNC:4714 H1.0 linker histone H1-0 """H1 histone family member 0"", ""H1 histone family, member 0"", ""H1.0, H1(0), H1-0""" H1.0, H10, H1F0, H1FV Yes No Comparative Toxicogenomics Database:3005, GenAtlas:H1F0, GeneCard:H1F0, HGNC:HGNC:4714, ModBase:P07305, NCBI Gene:3005, OMIM:142708, RefSeq DNA:NT_011520, RefSeq Protein:NP_005309, RefSeq RNA:NM_005318, UCSC Genome Browser:NM_005318, UniProtKB:P07305 No chr22 38201114 38203443 37805107 37807436 +PA166351832 3024 HGNC:4715 H1.1 linker histone, cluster member H1-1 H1.1, H1F1, H1a, HIST1H1A Yes No HGNC:HGNC:4715, NCBI Gene:3024 No 0 0 0 0 +PA166351838 8971 HGNC:4722 H1.10 linker histone H1-10 H1FX, H1X, MGC15959, MGC8350 Yes No HGNC:HGNC:4722, NCBI Gene:8971 No 0 0 0 0 +PA29094 3006 HGNC:4716 H1.2 linker histone, cluster member H1-2 """histone cluster 1 H1 family member c"", ""histone cluster 1, H1c""" H1.2, H1F2, H1c, H1s-1, HIST1H1C Yes No Comparative Toxicogenomics Database:3006, GeneCard:HIST1H1C, HGNC:HGNC:4716, HumanCyc Gene:HS09729, ModBase:P16403, NCBI Gene:3006, OMIM:142710, RefSeq DNA:NG_001335, RefSeq DNA:NT_007592, RefSeq Protein:NP_005310, RefSeq RNA:NM_005319, UCSC Genome Browser:NM_005319, UniProtKB:A8K4I2, UniProtKB:P16403 No chr6 26055968 26056699 26055740 26056471 +PA166351833 3007 HGNC:4717 H1.3 linker histone, cluster member H1-3 H1.3, H1F3, H1d, H1s-2, HIST1H1D Yes No HGNC:HGNC:4717, NCBI Gene:3007 No 0 0 0 0 +PA166351834 3008 HGNC:4718 H1.4 linker histone, cluster member H1-4 H1.4, H1F4, H1e, H1s-4, HIST1H1E Yes No HGNC:HGNC:4718, NCBI Gene:3008 No 0 0 0 0 +PA29097 3009 HGNC:4719 H1.5 linker histone, cluster member H1-5 """histone cluster 1 H1 family member b"", ""histone cluster 1, H1b""" H1.5, H1F5, H1b, H1s-3, HIST1H1B Yes No GeneCard:HIST1H1B, HGNC:HGNC:4719, ModBase:P16401, NCBI Gene:3009, OMIM:142711, RefSeq DNA:NG_000009, RefSeq DNA:NT_007592, RefSeq Protein:NP_005313, RefSeq RNA:NM_005322, UCSC Genome Browser:NM_005322, UniProtKB:P16401 No chr6 27834570 27835359 27866792 27867581 +PA166351835 3010 HGNC:4720 H1.6 linker histone, cluster member H1-6 H1FT, H1t, HIST1H1T Yes No HGNC:HGNC:4720, NCBI Gene:3010 No 0 0 0 0 +PA166351836 341567 HGNC:24893 H1.7 linker histone H1-7 H1FNT, H1T2, HANP1 Yes No HGNC:HGNC:24893, NCBI Gene:341567 No 0 0 0 0 +PA166351837 132243 HGNC:18463 H1.8 linker histone H1-8 H1FOO Yes No HGNC:HGNC:18463, NCBI Gene:132243 No 0 0 0 0 +PA29091 283120 HGNC:4713 ENSG00000130600 H19, imprinted maternally expressed transcript (non-protein coding) H19 long intergenic non-protein coding RNA 8, non-protein coding RNA 8 ASM, ASM1, D11S813E, LINC00008, NCRNA00008 Yes Yes Comparative Toxicogenomics Database:283120, Ensembl:ENSG00000130600, GenAtlas:H19, GeneCard:H19, HGNC:HGNC:4713, NCBI Gene:283120, OMIM:103280, OMIM:130650, OMIM:180860, OMIM:194071, RefSeq DNA:NG_016165, RefSeq DNA:NT_009237, RefSeq RNA:NR_002196, UCSC Genome Browser:NM_032774 No chr11 2016406 2019065 1995176 2001466 +PA166351839 474382 HGNC:22516 H2A.B variant histone 1 H2AB1 H2A.B.2, H2AFB1 Yes No HGNC:HGNC:22516, NCBI Gene:474382 No 0 0 0 0 +PA166351840 474381 HGNC:18298 H2A.B variant histone 2 H2AB2 H2A.B.1, H2AFB2 Yes No HGNC:HGNC:18298, NCBI Gene:474381 No 0 0 0 0 +PA166351841 83740 HGNC:14455 H2A.B variant histone 3 H2AB3 H2A.B.1, H2AFB, H2AFB3 Yes No HGNC:HGNC:14455, NCBI Gene:83740 No 0 0 0 0 +PA166351842 221613 HGNC:18729 H2A clustered histone 1 H2AC1 H2AFR, HIST1H2AA, bA317E16.2 Yes No HGNC:HGNC:18729, NCBI Gene:221613 No 0 0 0 0 +PA166351847 8969 HGNC:4737 H2A clustered histone 11 H2AC11 H2A.1b, H2A/p, H2AFP, HIST1H2AG, pH2A/f Yes No HGNC:HGNC:4737, NCBI Gene:8969 No 0 0 0 0 +PA166351848 85235 HGNC:13671 H2A clustered histone 12 H2AC12 H2A/S, H2AFALii, HIST1H2AH, dJ86C11.1 Yes No HGNC:HGNC:13671, NCBI Gene:85235 No 0 0 0 0 +PA166351849 8329 HGNC:4725 H2A clustered histone 13 H2AC13 H2A/c, H2AFC, HIST1H2AI Yes No HGNC:HGNC:4725, NCBI Gene:8329 No 0 0 0 0 +PA166351850 8331 HGNC:4727 H2A clustered histone 14 H2AC14 H2A/E, H2AFE, HIST1H2AJ Yes No HGNC:HGNC:4727, NCBI Gene:8331 No 0 0 0 0 +PA166351851 8330 HGNC:4726 H2A clustered histone 15 H2AC15 H2A/d, H2AFD, HIST1H2AK Yes No HGNC:HGNC:4726, NCBI Gene:8330 No 0 0 0 0 +PA166351852 8332 HGNC:4730 H2A clustered histone 16 H2AC16 H2A/i, H2AFI, HIST1H2AL, dJ193B12.9 Yes No HGNC:HGNC:4730, NCBI Gene:8332 No 0 0 0 0 +PA166351853 8336 HGNC:4735 H2A clustered histone 17 H2AC17 H2A.1, H2A/n, H2AFN, HIST1H2AM Yes No HGNC:HGNC:4735, NCBI Gene:8336 No 0 0 0 0 +PA29113 8337 HGNC:4736 H2A clustered histone 18 H2AC18 """histone cluster 2 H2A family member a3"", ""histone cluster 2, H2aa3""" H2A.2, H2A/q, H2AFO, HIST2H2AA, HIST2H2AA3 Yes No GenAtlas:HIST2H2AA3, GeneCard:HIST2H2AA3, HGNC:HGNC:4736, NCBI Gene:8337, OMIM:142720, RefSeq DNA:NG_005594, RefSeq DNA:NT_004487, RefSeq Protein:NP_003507, RefSeq RNA:NM_003516, UCSC Genome Browser:NM_003516, UniProtKB:Q6FI13 No chr1 149813785 149814318 149842218 149842751 +PA166351854 723790 HGNC:29668 H2A clustered histone 19 H2AC19 H2A/r, HIST2H2AA4 Yes No HGNC:HGNC:29668, NCBI Gene:723790 No 0 0 0 0 +PA166351855 8338 HGNC:4738 H2A clustered histone 20 H2AC20 H2A, H2A/q, H2AFQ, HIST2H2AC Yes No HGNC:HGNC:4738, NCBI Gene:8338 No 0 0 0 0 +PA166351856 317772 HGNC:20508 H2A clustered histone 21 H2AC21 HIST2H2AB Yes No HGNC:HGNC:20508, NCBI Gene:317772 No 0 0 0 0 +PA166351857 92815 HGNC:20507 H2A clustered histone 25 H2AC25 H2AW, HIST3H2A, MGC3165 Yes No HGNC:HGNC:20507, NCBI Gene:92815 No 0 0 0 0 +PA166351843 8335 HGNC:4734 H2A clustered histone 4 H2AC4 H2A/m, H2AFM, HIST1H2AB Yes No HGNC:HGNC:4734, NCBI Gene:8335 No 0 0 0 0 +PA166351844 8334 HGNC:4733 H2A clustered histone 6 H2AC6 H2AFL, HIST1H2AC Yes No HGNC:HGNC:4733, NCBI Gene:8334 No 0 0 0 0 +PA166351845 3013 HGNC:4729 H2A clustered histone 7 H2AC7 H2A.3, H2A/g, H2AFG, HIST1H2AD Yes No HGNC:HGNC:4729, NCBI Gene:3013 No 0 0 0 0 +PA166351846 3012 HGNC:4724 H2A clustered histone 8 H2AC8 H2A.1, H2A/a, H2AFA, HIST1H2AE Yes No HGNC:HGNC:4724, NCBI Gene:3012 No 0 0 0 0 +PA166351858 55766 HGNC:14456 H2A.J histone H2AJ FLJ10903, H2AFJ, MGC921 Yes No HGNC:HGNC:14456, NCBI Gene:55766 No 0 0 0 0 +PA166351859 115482686 HGNC:53960 H2A.L variant histone 3 H2AL3 H2A.L.3, H2AL1RP Yes No HGNC:HGNC:53960, NCBI Gene:115482686 No 0 0 0 0 +PA166351860 25763 HGNC:18417 H2A.P histone H2AP CXorf27, HIP17, HYPM Yes No HGNC:HGNC:18417, NCBI Gene:25763 No 0 0 0 0 +PA29116 3014 HGNC:4739 H2A.X variant histone H2AX """H2A histone family member X"", ""H2A histone family, member X""" H2AFX, H2AX Yes No Comparative Toxicogenomics Database:3014, GenAtlas:H2AFX, GeneCard:H2AFX, HGNC:HGNC:4739, ModBase:P16104, NCBI Gene:3014, OMIM:601772, RefSeq DNA:NT_033899, RefSeq Protein:NP_002096, RefSeq RNA:NM_002105, UCSC Genome Browser:NM_002105, UniProtKB:P16104 No chr11 118964580 118966177 119093874 119095467 +PA166351861 3015 HGNC:4741 H2A.Z variant histone 1 H2AZ1 H2A.Z, H2AFZ, H2AZ Yes No HGNC:HGNC:4741, NCBI Gene:3015 No 0 0 0 0 +PA166351862 94239 HGNC:20664 H2A.Z variant histone 2 H2AZ2 H2AFV, H2AV, MGC10170, MGC10831, MGC1947 Yes No HGNC:HGNC:20664, NCBI Gene:94239 No 0 0 0 0 +PA166351863 255626 HGNC:18730 H2B clustered histone 1 H2BC1 H2BFU, HIST1H2BA, STBP, TSH2B, bA317E16.3 Yes No HGNC:HGNC:18730, NCBI Gene:255626 No 0 0 0 0 +PA166351870 8346 HGNC:4756 H2B clustered histone 10 H2BC10 H2B/k, H2BFK, HIST1H2BI Yes No HGNC:HGNC:4756, NCBI Gene:8346 No 0 0 0 0 +PA166351871 8970 HGNC:4761 H2B clustered histone 11 H2BC11 H2B/r, H2BFR, HIST1H2BJ Yes No HGNC:HGNC:4761, NCBI Gene:8970 No 0 0 0 0 +PA166351872 85236 HGNC:13954 H2B clustered histone 12 H2BC12 H2BFAiii, H2BFT, HIST1H2BK Yes No HGNC:HGNC:13954, NCBI Gene:85236 No 0 0 0 0 +PA166351873 54145 HGNC:4762 H2B clustered histone 12 like H2BC12L H2BFS, H2BS1 Yes No HGNC:HGNC:4762, NCBI Gene:54145 No 0 0 0 0 +PA166351874 8340 HGNC:4748 H2B clustered histone 13 H2BC13 H2B/c, H2BFC, HIST1H2BL, dJ97D16.4 Yes No HGNC:HGNC:4748, NCBI Gene:8340 No 0 0 0 0 +PA29125 8342 HGNC:4750 H2B clustered histone 14 H2BC14 """histone cluster 1 H2B family member m"", ""histone cluster 1, H2bm""" H2B/e, H2BFE, HIST1H2BM, dJ160A22.3 Yes No Comparative Toxicogenomics Database:8342, GeneCard:HIST1H2BM, HGNC:HGNC:4750, ModBase:Q99879, NCBI Gene:8342, OMIM:602802, RefSeq DNA:NG_000009, RefSeq DNA:NT_007592, RefSeq Protein:NP_003512, RefSeq RNA:NM_003521, UCSC Genome Browser:NM_003521, UniProtKB:Q99879 No chr6 27782822 27783267 27815044 27815489 +PA166351875 8341 HGNC:4749 H2B clustered histone 15 H2BC15 H2B/d, H2BFD, HIST1H2BN Yes No HGNC:HGNC:4749, NCBI Gene:8341 No 0 0 0 0 +PA166351876 8348 HGNC:4758 H2B clustered histone 17 H2BC17 H2B.2, H2B/n, H2BFN, HIST1H2BO Yes No HGNC:HGNC:4758, NCBI Gene:8348 No 0 0 0 0 +PA166351877 440689 HGNC:24700 H2B clustered histone 18 H2BC18 HIST2H2BF Yes No HGNC:HGNC:24700, NCBI Gene:440689 No 0 0 0 0 +PA166351878 8349 HGNC:4760 H2B clustered histone 21 H2BC21 H2B, H2B-GL105, H2B.1, H2B/q, H2BE, H2BFQ, HIST2H2BE Yes No HGNC:HGNC:4760, NCBI Gene:8349 No 0 0 0 0 +PA166351879 128312 HGNC:20514 H2B clustered histone 26 H2BC26 H2BU1, HIST3H2BB Yes No HGNC:HGNC:20514, NCBI Gene:128312 No 0 0 0 0 +PA166351864 3018 HGNC:4751 H2B clustered histone 3 H2BC3 H2B/f, H2BFF, HIST1H2BB Yes No HGNC:HGNC:4751, NCBI Gene:3018 No 0 0 0 0 +PA166351865 8347 HGNC:4757 H2B clustered histone 4 H2BC4 H2B.1, H2B/l, H2BFL, HIST1H2BC Yes No HGNC:HGNC:4757, NCBI Gene:8347 No 0 0 0 0 +PA166351866 3017 HGNC:4747 H2B clustered histone 5 H2BC5 H2B/b, H2BFB, HIST1H2BD Yes No HGNC:HGNC:4747, NCBI Gene:3017 No 0 0 0 0 +PA29128 8344 HGNC:4753 H2B clustered histone 6 H2BC6 """histone cluster 1 H2B family member e"", ""histone cluster 1, H2be""" H2B.h, H2B/h, H2BFH, HIST1H2BE Yes No Comparative Toxicogenomics Database:8344, GeneCard:HIST1H2BE, HGNC:HGNC:4753, NCBI Gene:8344, OMIM:602805, RefSeq DNA:NG_001335, RefSeq DNA:NT_007592, RefSeq Protein:NP_003514, RefSeq RNA:NM_003523, UCSC Genome Browser:NM_003523 No chr6 26184024 26184458 26183796 26184230 +PA166351867 8343 HGNC:4752 H2B clustered histone 7 H2BC7 H2B/g, H2BFG, HIST1H2BF Yes No HGNC:HGNC:4752, NCBI Gene:8343 No 0 0 0 0 +PA166351868 8339 HGNC:4746 H2B clustered histone 8 H2BC8 H2B.1A, H2B/a, H2BFA, HIST1H2BG Yes No HGNC:HGNC:4746, NCBI Gene:8339 No 0 0 0 0 +PA166351869 8345 HGNC:4755 H2B clustered histone 9 H2BC9 H2B/j, H2BFJ, HIST1H2BH Yes No HGNC:HGNC:4755, NCBI Gene:8345 No 0 0 0 0 +PA166351880 114483833 HGNC:53833 H2B.K variant histone 1 H2BK1 H2BE1 Yes No HGNC:HGNC:53833, NCBI Gene:114483833 No 0 0 0 0 +PA166351881 124188214 HGNC:56200 H2B.N variant histone 1 H2BN1 Yes No HGNC:HGNC:56200, NCBI Gene:124188214 No 0 0 0 0 +PA166351882 158983 HGNC:27252 H2B.W histone 1 H2BW1 H2BFWT, TH2B-175 Yes No HGNC:HGNC:27252, NCBI Gene:158983 No 0 0 0 0 +PA166351883 286436 HGNC:27867 H2B.W histone 2 H2BW2 H2BFM, H2BM Yes No HGNC:HGNC:27867, NCBI Gene:286436 No 0 0 0 0 +PA166351884 3020 HGNC:4764 H3.3 histone A H3-3A H3.3A, H3F3, H3F3A Yes No HGNC:HGNC:4764, NCBI Gene:3020 No 0 0 0 0 +PA29140 3021 HGNC:4765 H3.3 histone B H3-3B """H3 histone family member 3B"", ""H3 histone, family 3B (H3.3B)""" H3.3B, H3F3B Yes No Comparative Toxicogenomics Database:3021, GenAtlas:H3F3B, GeneCard:H3F3B, HGNC:HGNC:4765, HumanCyc Gene:HS05642, HumanCyc Gene:HS08776, NCBI Gene:3021, OMIM:601058, RefSeq DNA:NT_010783, RefSeq Protein:NP_005315, RefSeq RNA:NM_005324, UCSC Genome Browser:NM_005324, UniProtKB:B2R4P9, UniProtKB:P84243 No chr17 73772515 73775860 75776434 75779935 +PA166351885 8290 HGNC:4778 H3.4 histone, cluster member H3-4 H3 clustered histone 16 H3.4, H3/g, H3C16, H3FT, H3t, HIST3H3 Yes No HGNC:HGNC:4778, NCBI Gene:8290 No 0 0 0 0 +PA166351886 440093 HGNC:33164 H3.5 histone H3-5 H3.3C, H3.5, H3F3C Yes No HGNC:HGNC:33164, NCBI Gene:440093 No 0 0 0 0 +PA166351887 440686 HGNC:32060 H3.7 histone (putative) H3-7 H3-2, H3.7, HIST2H3PS2, p06 Yes No HGNC:HGNC:32060, NCBI Gene:440686 No 0 0 0 0 +PA166351888 8350 HGNC:4766 H3 clustered histone 1 H3C1 H3/A, H3FA, HIST1H3A Yes No HGNC:HGNC:4766, NCBI Gene:8350 No 0 0 0 0 +PA166351895 8357 HGNC:4775 H3 clustered histone 10 H3C10 H3/k, H3F1K, H3FK, HIST1H3H Yes No HGNC:HGNC:4775, NCBI Gene:8357 No 0 0 0 0 +PA166351896 8354 HGNC:4771 H3 clustered histone 11 H3C11 H3.f, H3/f, H3FF, HIST1H3I Yes No HGNC:HGNC:4771, NCBI Gene:8354 No 0 0 0 0 +PA166351897 8356 HGNC:4774 H3 clustered histone 12 H3C12 H3/j, H3FJ, HIST1H3J Yes No HGNC:HGNC:4774, NCBI Gene:8356 No 0 0 0 0 +PA166351898 653604 HGNC:25311 H3 clustered histone 13 H3C13 HIST2H3D Yes No HGNC:HGNC:25311, NCBI Gene:653604 No 0 0 0 0 +PA166351899 126961 HGNC:20503 H3 clustered histone 14 H3C14 H3, H3.2, H3/M, H3F2, H3FM, HIST2H3C, MGC9629 Yes No HGNC:HGNC:20503, NCBI Gene:126961 No 0 0 0 0 +PA166351900 333932 HGNC:20505 H3 clustered histone 15 H3C15 H3/n, H3/o, HIST2H3A Yes No HGNC:HGNC:20505, NCBI Gene:333932 No 0 0 0 0 +PA166351889 8358 HGNC:4776 H3 clustered histone 2 H3C2 H3/l, H3FL, HIST1H3B Yes No HGNC:HGNC:4776, NCBI Gene:8358 No 0 0 0 0 +PA166351890 8352 HGNC:4768 H3 clustered histone 3 H3C3 H3.1, H3/c, H3FC, HIST1H3C Yes No HGNC:HGNC:4768, NCBI Gene:8352 No 0 0 0 0 +PA166351891 8351 HGNC:4767 H3 clustered histone 4 H3C4 H3/b, H3FB, HIST1H3D Yes No HGNC:HGNC:4767, NCBI Gene:8351 No 0 0 0 0 +PA166351892 8353 HGNC:4769 H3 clustered histone 6 H3C6 H3.1, H3/d, H3FD, HIST1H3E Yes No HGNC:HGNC:4769, NCBI Gene:8353 No 0 0 0 0 +PA166351893 8968 HGNC:4773 H3 clustered histone 7 H3C7 H3/i, H3FI, HIST1H3F Yes No HGNC:HGNC:4773, NCBI Gene:8968 No 0 0 0 0 +PA166351894 8355 HGNC:4772 H3 clustered histone 8 H3C8 H3/h, H3FH, HIST1H3G Yes No HGNC:HGNC:4772, NCBI Gene:8355 No 0 0 0 0 +PA166351901 391769 HGNC:43735 H3.Y histone 1 H3Y1 H3.Y, H3.Y.1 Yes No HGNC:HGNC:43735, NCBI Gene:391769 No 0 0 0 0 +PA166351902 340096 HGNC:43734 H3.Y histone 2 H3Y2 H3.X, H3.Y.2 Yes No HGNC:HGNC:43734, NCBI Gene:340096 No 0 0 0 0 +PA166351903 8359 HGNC:4781 H4 clustered histone 1 H4C1 H4FA, HIST1H4A Yes No HGNC:HGNC:4781, NCBI Gene:8359 No 0 0 0 0 +PA166351911 8363 HGNC:4785 H4 clustered histone 11 H4C11 H4/e, H4F2iv, H4FE, HIST1H4J Yes No HGNC:HGNC:4785, NCBI Gene:8363 No 0 0 0 0 +PA166351912 8362 HGNC:4784 H4 clustered histone 12 H4C12 H4/d, H4F2iii, H4FD, HIST1H4K, dJ160A22.1 Yes No HGNC:HGNC:4784, NCBI Gene:8362 No 0 0 0 0 +PA166351913 8368 HGNC:4791 H4 clustered histone 13 H4C13 H4.k, H4/k, H4FK, HIST1H4L Yes No HGNC:HGNC:4791, NCBI Gene:8368 No 0 0 0 0 +PA166351914 8370 HGNC:4794 H4 clustered histone 14 H4C14 H4/n, H4F2, H4FN, HIST2H4, HIST2H4A Yes No HGNC:HGNC:4794, NCBI Gene:8370 No 0 0 0 0 +PA166351915 554313 HGNC:29607 H4 clustered histone 15 H4C15 H4/o, HIST2H4B Yes No HGNC:HGNC:29607, NCBI Gene:554313 No 0 0 0 0 +PA166351916 121504 HGNC:20510 H4 histone 16 H4C16 H4-16, HIST4H4, MGC24116 Yes No HGNC:HGNC:20510, NCBI Gene:121504 No 0 0 0 0 +PA166351904 8366 HGNC:4789 H4 clustered histone 2 H4C2 H4/I, H4FI, HIST1H4B Yes No HGNC:HGNC:4789, NCBI Gene:8366 No 0 0 0 0 +PA166351905 8364 HGNC:4787 H4 clustered histone 3 H4C3 H4/g, H4FG, HIST1H4C, dJ221C16.1 Yes No HGNC:HGNC:4787, NCBI Gene:8364 No 0 0 0 0 +PA29157 8360 HGNC:4782 H4 clustered histone 4 H4C4 """histone cluster 1 H4 family member d"", ""histone cluster 1, H4d""" H4/b, H4FB, HIST1H4D Yes No GeneCard:HIST1H4D, HGNC:HGNC:4782, NCBI Gene:8360, OMIM:602823, RefSeq DNA:NG_001335, RefSeq DNA:NT_007592, RefSeq Protein:NP_003530, RefSeq RNA:NM_003539, UCSC Genome Browser:NM_003539 No chr6 26188938 26189304 26188710 26189076 +PA166351906 8367 HGNC:4790 H4 clustered histone 5 H4C5 H4/j, H4FJ, HIST1H4E Yes No HGNC:HGNC:4790, NCBI Gene:8367 No 0 0 0 0 +PA166351907 8361 HGNC:4783 H4 clustered histone 6 H4C6 H4, H4/c, H4FC, HIST1H4F Yes No HGNC:HGNC:4783, NCBI Gene:8361 No 0 0 0 0 +PA166351908 8369 HGNC:4792 H4 clustered histone 7 H4C7 H4/l, H4FL, HIST1H4G Yes No HGNC:HGNC:4792, NCBI Gene:8369 No 0 0 0 0 +PA166351909 8365 HGNC:4788 H4 clustered histone 8 H4C8 H4/h, H4FH, HIST1H4H Yes No HGNC:HGNC:4788, NCBI Gene:8365 No 0 0 0 0 +PA166351910 8294 HGNC:4793 H4 clustered histone 9 H4C9 H4/m, H4FM, HIST1H4I Yes No HGNC:HGNC:4793, NCBI Gene:8294 No 0 0 0 0 +PA29170 9563 HGNC:4795 ENSG00000049239 hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase H6PD 6-phosphogluconolactonase, GDH/6PGL endoplasmic bifunctional protein, hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) GDH, H6PDH Yes No Comparative Toxicogenomics Database:9563, Ensembl:ENSG00000049239, GenAtlas:H6PD, GeneCard:H6PD, HGNC:HGNC:4795, HumanCyc Gene:HS00614, ModBase:O95479, NCBI Gene:9563, OMIM:138090, OMIM:604931, RefSeq DNA:NG_012218, RefSeq DNA:NT_021937, RefSeq Protein:NP_004276, RefSeq RNA:NM_004285, UCSC Genome Browser:NM_004285, UniProtKB:O95479 No chr1 9294822 9331396 9234767 9271337 +PA29171 23498 HGNC:4796 ENSG00000162882 3-hydroxyanthranilate 3,4-dioxygenase HAAO 3-hydroxyanthranilic-acid dioxygenase 3-HAO, HAO Yes No Comparative Toxicogenomics Database:23498, Ensembl:ENSG00000162882, GenAtlas:HAAO, GeneCard:HAAO, HGNC:HGNC:4796, HumanCyc Gene:HS08749, ModBase:P46952, NCBI Gene:23498, OMIM:604521, RefSeq DNA:NT_022184, RefSeq Protein:NP_036337, RefSeq RNA:NM_012205, UCSC Genome Browser:NM_012205, UniProtKB:P46952 No chr2 42994229 43019753 42766198 42794359 +PA29172 3026 HGNC:4798 ENSG00000148702 hyaluronan binding protein 2 HABP2 factor VII activating protein, plasma hyaluronan binding protein FSAP, HABP, HGFAL, PHBP Yes No Comparative Toxicogenomics Database:3026, Ensembl:ENSG00000148702, GenAtlas:HABP2, GeneCard:HABP2, HGNC:HGNC:4798, HumanCyc Gene:HS07553, ModBase:Q14520, NCBI Gene:3026, OMIM:188050, OMIM:603924, RefSeq DNA:NG_008956, RefSeq DNA:NT_030059, RefSeq Protein:NP_001171131, RefSeq Protein:NP_004123, RefSeq RNA:NM_001177660, RefSeq RNA:NM_004132, UCSC Genome Browser:NM_004132, UniProtKB:B7Z8U5, UniProtKB:Q14520 No chr10 115310590 115349361 113550831 113589602 +PA38434 22927 HGNC:17062 ENSG00000130956 hyaluronan binding protein 4 HABP4 IHABP4, SERBP1L Yes No Comparative Toxicogenomics Database:22927, Ensembl:ENSG00000130956, GenAtlas:HABP4, GeneCard:HABP4, HGNC:HGNC:17062, HumanCyc Gene:HS13362, ModBase:Q5JVS0, NCBI Gene:22927, RefSeq DNA:NT_008470, RefSeq Protein:NP_055097, RefSeq RNA:NM_014282, UCSC Genome Browser:NM_014282, UniProtKB:Q5JVS0 No chr9 99212414 99253618 96450155 96491336 +PA33982 9200 HGNC:9639 ENSG00000165996 3-hydroxyacyl-CoA dehydratase 1 HACD1 """Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1"", ""cementum attachment protein"", ""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A""" CAP, PTPLA Yes No Comparative Toxicogenomics Database:9200, Ensembl:ENSG00000165996, GenAtlas:PTPLA, GeneCard:PTPLA, HGNC:HGNC:9639, HumanCyc Gene:HS09316, ModBase:B0YJ81, NCBI Gene:9200, OMIM:610467, RefSeq DNA:NT_008705, RefSeq Protein:NP_055056, RefSeq RNA:NM_014241, UCSC Genome Browser:NM_014241, UniProtKB:B0YJ81 No chr10 17631031 17659383 17589959 17617374 +PA33983 201562 HGNC:9640 ENSG00000206527 3-hydroxyacyl-CoA dehydratase 2 HACD2 """Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2"", ""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b""" PTPLB Yes No Ensembl:ENSG00000206527, GenAtlas:PTPLB, GeneCard:PTPLB, HGNC:HGNC:9640, NCBI Gene:201562, RefSeq DNA:NT_005612, RefSeq Protein:NP_940684, RefSeq RNA:NM_198402, UniProtKB:Q6Y1H2 No chr3 123213363 123303924 123491548 123585093 +PA142671113 51495 HGNC:24175 ENSG00000074696 3-hydroxyacyl-CoA dehydratase 3 HACD3 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3, protein tyrosine phosphatase-like A domain containing 1 B-ind1, HSPC121, PTPLAD1 Yes No Comparative Toxicogenomics Database:51495, Ensembl:ENSG00000074696, GeneCard:PTPLAD1, HGNC:HGNC:24175, HumanCyc Gene:HS01148, ModBase:Q9NQA7, NCBI Gene:51495, RefSeq DNA:NT_010194, RefSeq Protein:NP_057479, RefSeq RNA:NM_016395, UniProtKB:Q9P035 No chr15 65822804 65870693 65530489 65578355 +PA142671114 401494 HGNC:20920 ENSG00000188921 3-hydroxyacyl-CoA dehydratase 4 HACD4 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4, protein tyrosine phosphatase-like A domain containing 2 Em:AL662879.1, OTTHUMG00000021016, PTPLAD2 Yes No Ensembl:ENSG00000188921, GeneCard:PTPLAD2, HGNC:HGNC:20920, ModBase:Q5VWC8, NCBI Gene:401494, RefSeq DNA:NT_008413, RefSeq Protein:NP_001010915, RefSeq RNA:NM_001010915, UniProtKB:Q5VWC8 No chr9 21003620 21031635 21003621 21031712 +PA134983914 57531 HGNC:21033 ENSG00000085382 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 HACE1 KIAA1320 Yes No Ensembl:ENSG00000085382, GeneCard:HACE1, HGNC:HGNC:21033, ModBase:Q8IYU2, NCBI Gene:57531, OMIM:610876, RefSeq DNA:NT_025741, RefSeq Protein:NP_065822, RefSeq RNA:NM_020771, UniProtKB:B3KY89, UniProtKB:Q8IYU2 No chr6 105175968 105307794 104682670 104859919 +PA142671172 26061 HGNC:17856 ENSG00000131373 2-hydroxyacyl-CoA lyase 1 HACL1 2-HPCL, HPCL, PHYH2 Yes No Comparative Toxicogenomics Database:26061, Ensembl:ENSG00000131373, GeneCard:HACL1, HGNC:HGNC:17856, HumanCyc Gene:HS05516, ModBase:Q9UJ83, NCBI Gene:26061, OMIM:604300, RefSeq DNA:NT_022517, RefSeq Protein:NP_036392, RefSeq RNA:NM_012260, UniProtKB:Q9UJ83 No chr3 15602239 15643359 15560704 15601852 +PA29173 3033 HGNC:4799 ENSG00000138796 hydroxyacyl-CoA dehydrogenase HADH HADH1, HADHSC, SCHAD Yes No Ensembl:ENSG00000138796, GenAtlas:HADH, GeneCard:HADH, HGNC:HGNC:4799, HumanCyc Gene:HS06563, ModBase:Q16836, NCBI Gene:3033, OMIM:231530, OMIM:601609, OMIM:609975, RefSeq DNA:NG_008156, RefSeq DNA:NT_016354, RefSeq Protein:NP_001171634, RefSeq Protein:NP_005318, RefSeq RNA:NM_001184705, RefSeq RNA:NM_005327, UCSC Genome Browser:NM_005327, UniProtKB:Q16836 No chr4 108910870 108956331 107989714 108035175 +PA29175 3030 HGNC:4801 ENSG00000084754 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha HADHA """gastrin-binding protein"", ""hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit"", ""long-chain 2-enoyl-CoA hydratase"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""mitochondrial trifunctional protein, alpha subunit""" GBP, LCEH, LCHAD, MTPA Yes Yes Comparative Toxicogenomics Database:3030, Ensembl:ENSG00000084754, GenAtlas:HADHA, GeneCard:HADHA, HGNC:HGNC:4801, HumanCyc Gene:HS01481, ModBase:P40939, NCBI Gene:3030, OMIM:600890, OMIM:609015, OMIM:609016, RefSeq DNA:NG_007121, RefSeq DNA:NT_022184, RefSeq Protein:NP_000173, RefSeq RNA:NM_000182, UCSC Genome Browser:NM_000182, UniProtKB:P40939 No chr2 26413504 26467665 26190635 26244726 +PA29176 3031 HGNC:4802 ENSG00000251596 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 1 HADHAP1 Yes No Ensembl:ENSG00000251596, GenAtlas:HADHAP, GeneCard:HADHAP1, HGNC:HGNC:4802, NCBI Gene:3031, RefSeq DNA:NG_000863, RefSeq DNA:NT_016354 No chr4 166324839 166327536 165403687 165406384 +PA29177 3032 HGNC:4803 ENSG00000138029 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta HADHB """hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit"", ""mitochondrial trifunctional protein, beta subunit""" MTPB Yes No Comparative Toxicogenomics Database:3032, Ensembl:ENSG00000138029, GenAtlas:HADHB, GeneCard:HADHB, HGNC:HGNC:4803, HumanCyc Gene:HS06436, ModBase:P55084, NCBI Gene:3032, OMIM:143450, OMIM:609015, RefSeq DNA:NG_007294, RefSeq DNA:NT_022184, RefSeq Protein:NP_000174, RefSeq RNA:NM_000183, UCSC Genome Browser:NM_000183, UniProtKB:P55084 No chr2 26467616 26513333 26244748 26290465 +PA29179 3029 HGNC:4805 ENSG00000063854 hydroxyacylglutathione hydrolase HAGH GLO2, GLXII, HAGH1 Yes No Comparative Toxicogenomics Database:3029, Ensembl:ENSG00000063854, GenAtlas:HAGH, GeneCard:HAGH, HGNC:HGNC:4805, HumanCyc Gene:HS00787, NCBI Gene:3029, OMIM:138760, RefSeq DNA:NG_023249, RefSeq DNA:NT_010393, RefSeq Protein:NP_001035517, RefSeq Protein:NP_005317, RefSeq RNA:NM_001040427, RefSeq RNA:NM_005326, UCSC Genome Browser:NM_005326, UniProtKB:Q16775 No chr16 1859104 1877195 1809099 1827194 +PA29180 84264 HGNC:14177 ENSG00000103253 hydroxyacylglutathione hydrolase like HAGHL hydroxyacylglutathione hydrolase-like MGC2605 Yes No Comparative Toxicogenomics Database:84264, Ensembl:ENSG00000103253, GenAtlas:HAGHL, GeneCard:HAGHL, HGNC:HGNC:14177, HumanCyc Gene:HS12517, ModBase:Q6PII5, NCBI Gene:84264, RefSeq DNA:NT_010393, RefSeq Protein:NP_115680, RefSeq Protein:NP_996995, RefSeq RNA:NM_032304, RefSeq RNA:NM_207112, UniProtKB:Q6PII5 No chr16 776958 779715 726936 729746 +PA29181 3034 HGNC:4806 ENSG00000084110 histidine ammonia-lyase HAL HIS Yes No Comparative Toxicogenomics Database:3034, Ensembl:ENSG00000084110, GenAtlas:HAL, GeneCard:HAL, HGNC:HGNC:4806, HumanCyc Gene:HS01466, ModBase:P42357, NCBI Gene:3034, OMIM:235800, OMIM:609457, RefSeq DNA:NG_008180, RefSeq DNA:NT_029419, RefSeq Protein:NP_002099, RefSeq RNA:NM_002108, UCSC Genome Browser:NM_002108, UniProtKB:P42357 No chr12 96366440 96390143 95972662 95996365 +PA29182 57817 HGNC:15598 ENSG00000105697 hepcidin antimicrobial peptide HAMP HEPC, HFE2B, LEAP-1, LEAP1 Yes No Comparative Toxicogenomics Database:57817, Ensembl:ENSG00000105697, GenAtlas:HAMP, GeneCard:HAMP, HGNC:HGNC:15598, HumanCyc Gene:HS02796, NCBI Gene:57817, OMIM:602390, OMIM:606464, OMIM:613313, RefSeq DNA:NG_011563, RefSeq DNA:NT_011109, RefSeq Protein:NP_066998, RefSeq RNA:NM_021175, UCSC Genome Browser:NM_021175, UniProtKB:P81172 No chr19 35773410 35776046 35282346 35285143 +PA29183 9421 HGNC:4807 ENSG00000113196 heart and neural crest derivatives expressed 1 HAND1 Hxt, Thing1, bHLHa27, eHand Yes No Ensembl:ENSG00000113196, GenAtlas:HAND1, GeneCard:HAND1, HGNC:HGNC:4807, HumanCyc Gene:HS03654, ModBase:O96004, NCBI Gene:9421, OMIM:602406, RefSeq DNA:NT_029289, RefSeq Protein:NP_004812, RefSeq RNA:NM_004821, UCSC Genome Browser:NM_004821, UniProtKB:O96004 No chr5 153854532 153857824 154474972 154478264 +PA29184 9464 HGNC:4808 ENSG00000164107 heart and neural crest derivatives expressed 2 HAND2 Hed, Thing2, bHLHa26, dHand Yes No Comparative Toxicogenomics Database:9464, Ensembl:ENSG00000164107, GenAtlas:HAND2, GeneCard:HAND2, HGNC:HGNC:4808, HumanCyc Gene:HS09015, ModBase:P61296, NCBI Gene:9464, OMIM:602407, RefSeq DNA:NT_016354, RefSeq Protein:NP_068808, RefSeq RNA:NM_021973, UCSC Genome Browser:NM_021973, UniProtKB:B6ECG9, UniProtKB:P61296 No chr4 174447652 174451378 173526501 173530227 +PA29185 54363 HGNC:4809 ENSG00000101323 hydroxyacid oxidase 1 HAO1 glycolate oxidase 1, hydroxyacid oxidase (glycolate oxidase) 1 GOX, GOX1 Yes No Comparative Toxicogenomics Database:54363, Ensembl:ENSG00000101323, GenAtlas:HAO1, GeneCard:HAO1, HGNC:HGNC:4809, HumanCyc Gene:HS02241, ModBase:Q9UJM8, NCBI Gene:54363, OMIM:605023, RefSeq DNA:NT_011387, RefSeq Protein:NP_060015, RefSeq RNA:NM_017545, UCSC Genome Browser:NM_017545, UniProtKB:A8K058, UniProtKB:Q9UJM8 No chr20 7863631 7921093 7882984 7940446 +PA29186 51179 HGNC:4810 ENSG00000116882 hydroxyacid oxidase 2 HAO2 (S)-2-hydroxy-acid oxidase, glycolate oxidase, growth-inhibiting protein 16, hydroxyacid oxidase 2 (long chain), long-chain L-2-hydroxy acid oxidase GIG16, HAOX2 Yes No Comparative Toxicogenomics Database:51179, Ensembl:ENSG00000116882, GenAtlas:HAO2, GeneCard:HAO2, HGNC:HGNC:4810, HumanCyc Gene:HS04066, ModBase:Q9NYQ3, NCBI Gene:51179, OMIM:605176, RefSeq DNA:NG_011967, RefSeq DNA:NT_032977, RefSeq Protein:NP_001005783, RefSeq Protein:NP_057611, RefSeq RNA:NM_001005783, RefSeq RNA:NM_016527, UCSC Genome Browser:NM_016527, UniProtKB:Q9NYQ3 No chr1 119911399 119936753 119361913 119394130 +PA29188 9001 HGNC:4812 ENSG00000173805 huntingtin associated protein 1 HAP1 huntingtin-associated protein 1, neuroan 1 HAP2, HIP5, HLP, hHLP1 Yes No Comparative Toxicogenomics Database:9001, Ensembl:ENSG00000173805, GenAtlas:HAP1, GeneCard:HAP1, HGNC:HGNC:4812, HumanCyc Gene:HS10733, ModBase:P54257, NCBI Gene:9001, OMIM:600947, RefSeq DNA:NT_010783, RefSeq Protein:NP_001073339, RefSeq Protein:NP_001073340, RefSeq Protein:NP_817084, RefSeq RNA:NM_001079870, RefSeq RNA:NM_001079871, RefSeq RNA:NM_177977, UCSC Genome Browser:NM_003949, UniProtKB:P54257 No chr17 39878891 39890898 41722639 41734646 +PA26901 1404 HGNC:2380 ENSG00000145681 hyaluronan and proteoglycan link protein 1 HAPLN1 Cartilage link protein, hyaluronan and proteoglycan link protein 1 CRTL1 Yes No Comparative Toxicogenomics Database:1404, Ensembl:ENSG00000145681, GenAtlas:HAPLN1, GeneCard:HAPLN1, HGNC:HGNC:2380, HumanCyc Gene:HS07271, ModBase:P10915, NCBI Gene:1404, OMIM:115435, RefSeq DNA:NT_006713, RefSeq Protein:NP_001875, RefSeq RNA:NM_001884, UCSC Genome Browser:NM_001884, UniProtKB:P10915 No chr5 82934017 83016896 83638198 83721210 +PA134878581 60484 HGNC:17410 ENSG00000132702 hyaluronan and proteoglycan link protein 2 HAPLN2 brain link protein 1 BRAL1 Yes No Comparative Toxicogenomics Database:60484, Ensembl:ENSG00000132702, GeneCard:HAPLN2, HGNC:HGNC:17410, HumanCyc Gene:HS05681, ModBase:Q9GZV7, NCBI Gene:60484, RefSeq DNA:NT_004487, RefSeq Protein:NP_068589, RefSeq RNA:NM_021817, UniProtKB:Q5T3J0, UniProtKB:Q9GZV7 No chr1 156589085 156595517 156601504 156626608 +PA134919215 145864 HGNC:21446 ENSG00000140511 hyaluronan and proteoglycan link protein 3 HAPLN3 EXLD1, HsT19883 Yes No Comparative Toxicogenomics Database:145864, Ensembl:ENSG00000140511, GeneCard:HAPLN3, HGNC:HGNC:21446, ModBase:Q96S86, NCBI Gene:145864, RefSeq DNA:NT_010274, RefSeq Protein:NP_839946, RefSeq RNA:NM_178232, UniProtKB:Q96S86 No chr15 89420519 89438857 88877285 88895626 +PA134886721 404037 HGNC:31357 ENSG00000187664 hyaluronan and proteoglycan link protein 4 HAPLN4 brain link protein 2 BRAL2, KIAA1926 Yes No Ensembl:ENSG00000187664, GeneCard:HAPLN4, HGNC:HGNC:31357, ModBase:Q86UW8, NCBI Gene:404037, RefSeq DNA:NT_011295, RefSeq Protein:NP_075378, RefSeq RNA:NM_023002, UniProtKB:Q86UW8 No chr19 19366450 19373596 19255641 19262787 +PA145149589 29035 HGNC:30103 ENSG00000182831 HUWE1 associated protein modifying stress responses HAPSTR1 Telomere Attrition and p53 Response 1, chromosome 16 open reading frame 72 C16orf72, FLJ41272, PRO0149, TAPR1 Yes No Ensembl:ENSG00000182831, GeneCard:C16orf72, HGNC:HGNC:30103, ModBase:Q14CZ0, NCBI Gene:29035, RefSeq DNA:NT_010393, RefSeq Protein:NP_054836, RefSeq RNA:NM_014117, UniProtKB:Q14CZ0 No chr16 9185537 9213555 9091329 9119698 +PA166351917 389895 HGNC:55138 HUWE1 associated protein modifying stress responses 2 HAPSTR2 Yes No HGNC:HGNC:55138, NCBI Gene:389895 No 0 0 0 0 +PA162390575 768096 HGNC:33117 ENSG00000225978 highly accelerated region 1A (non-protein coding) HAR1A """human accelerated region 1, forward"", ""long intergenic non-protein coding RNA 64"", ""non-protein coding RNA 64""" HAR1F, LINC00064, NCRNA00064 Yes No Ensembl:ENSG00000225978, GeneCard:HAR1A, HGNC:HGNC:33117, NCBI Gene:768096, OMIM:610556, RefSeq DNA:NT_011333, RefSeq RNA:NR_003244 No chr20 61732644 61735737 63101292 63104385 +PA162390576 768097 HGNC:33118 ENSG00000231133 highly accelerated region 1B (non-protein coding) HAR1B """human accelerated region 1, reverse"", ""long intergenic non-protein coding RNA 65"", ""non-protein coding RNA 65""" HAR1R, LINC00065, NCRNA00065 Yes No Ensembl:ENSG00000231133, GeneCard:HAR1B, HGNC:HGNC:33118, NCBI Gene:768097, OMIM:610557, RefSeq DNA:NT_011333, RefSeq RNA:NR_003245 No chr20 61726845 61733671 63095493 63102319 +PA162390577 283254 HGNC:26522 ENSG00000180423 harbinger transposase derived 1 HARBI1 C11orf77, FLJ32675 Yes No Ensembl:ENSG00000180423, GeneCard:HARBI1, HGNC:HGNC:26522, HumanCyc Gene:HS17504, NCBI Gene:283254, RefSeq DNA:NT_009237, RefSeq Protein:NP_776172, RefSeq RNA:NM_173811, UniProtKB:Q96MB7 No chr11 46624856 46638933 46603027 46617651 +PA29191 3035 HGNC:4816 histidyl-tRNA synthetase 1 HARS1 """Jo-1 antigen"", ""Jo‐1 antigen"", ""Jo‐1 antigen"", ""histidine tRNA ligase 1, cytoplasmic"", ""histidyl-tRNA synthetase""" HARS, HisRS, USH3B Yes No Comparative Toxicogenomics Database:3035, GenAtlas:HARS, GeneCard:HARS, HGNC:HGNC:4816, HumanCyc Gene:HS10130, ModBase:P12081, NCBI Gene:3035, OMIM:142810, RefSeq DNA:NT_029289, RefSeq Protein:NP_002100, RefSeq RNA:NM_002109, UCSC Genome Browser:NM_002109, UniProtKB:P12081 No chr5 140053490 140071681 140673904 140691727 +PA29192 23438 HGNC:4817 ENSG00000112855 histidyl-tRNA synthetase 2, mitochondrial HARS2 histidine tRNA ligase 2, mitochondrial (putative) HARSL, HARSR, HO3 Yes No Comparative Toxicogenomics Database:92675, Ensembl:ENSG00000112855, GenAtlas:HARS2, GeneCard:HARS2, HGNC:HGNC:4817, HumanCyc Gene:HS03628, ModBase:P49590, NCBI Gene:23438, OMIM:600783, RefSeq DNA:NG_021415, RefSeq DNA:NT_029289, RefSeq Protein:NP_036340, RefSeq RNA:NM_012208, UCSC Genome Browser:NM_080820, UniProtKB:P49590 No chr5 140071011 140078903 140691426 140699318 +PA29194 3036 HGNC:4818 ENSG00000105509 hyaluronan synthase 1 HAS1 HAS Yes No Ensembl:ENSG00000105509, GenAtlas:HAS1, GeneCard:HAS1, HGNC:HGNC:4818, HumanCyc Gene:HS02753, ModBase:Q92839, NCBI Gene:3036, OMIM:601463, RefSeq DNA:NT_011109, RefSeq Protein:NP_001514, RefSeq RNA:NM_001523, UCSC Genome Browser:NM_001523, UniProtKB:Q8IYH3, UniProtKB:Q92839 No chr19 52216365 52227239 51713112 51723992 +PA29195 3037 HGNC:4819 ENSG00000170961 hyaluronan synthase 2 HAS2 Yes No Comparative Toxicogenomics Database:3037, Ensembl:ENSG00000170961, GenAtlas:HAS2, GeneCard:HAS2, HGNC:HGNC:4819, HumanCyc Gene:HS10220, ModBase:Q92819, NCBI Gene:3037, OMIM:601636, RefSeq DNA:NT_008046, RefSeq Protein:NP_005319, RefSeq RNA:NM_005328, UCSC Genome Browser:NM_005328, UniProtKB:Q92819 No chr8 122624356 122653675 121613031 121641390 +PA162390578 594842 HGNC:34340 ENSG00000248690 HAS2 antisense RNA 1 HAS2-AS1 non-protein coding RNA 77 HASNT, NCRNA00077 Yes No Ensembl:ENSG00000248690, GeneCard:HAS2-AS1, HGNC:HGNC:34340, NCBI Gene:594842, RefSeq DNA:NT_008046, RefSeq RNA:NR_002835 No chr8 122651586 122657565 121639346 121645325 +PA29196 3038 HGNC:4820 ENSG00000103044 hyaluronan synthase 3 HAS3 Yes Yes Ensembl:ENSG00000103044, GenAtlas:HAS3, GeneCard:HAS3, HGNC:HGNC:4820, HumanCyc Gene:HS02447, ModBase:O00219, NCBI Gene:3038, OMIM:602428, RefSeq DNA:NT_010498, RefSeq Protein:NP_001186209, RefSeq Protein:NP_005320, RefSeq Protein:NP_619515, RefSeq RNA:NM_001199280, RefSeq RNA:NM_005329, RefSeq RNA:NM_138612, UCSC Genome Browser:NM_005329, UniProtKB:O00219, UniProtKB:Q8WTZ0, UniProtKB:Q96RV2 No chr16 69139467 69152622 69105564 69118719 +PA134909705 83903 HGNC:19682 ENSG00000177602 histone H3 associated protein kinase HASPIN germ cell associated 2 (haspin) GSG2, haspin Yes No Comparative Toxicogenomics Database:83903, Ensembl:ENSG00000177602, GeneCard:GSG2, HGNC:HGNC:19682, HumanCyc Gene:HS11191, ModBase:Q8TF76, NCBI Gene:83903, OMIM:609240, RefSeq DNA:NT_010718, RefSeq Protein:NP_114171, RefSeq RNA:NM_031965, UniProtKB:A0PJ70, UniProtKB:Q8TF76 No chr17 3627197 3629993 3723903 3726699 +PA29197 8520 HGNC:4821 ENSG00000128708 histone acetyltransferase 1 HAT1 KAT1 Yes No Comparative Toxicogenomics Database:8520, Ensembl:ENSG00000128708, GenAtlas:HAT1, GeneCard:HAT1, HGNC:HGNC:4821, HumanCyc Gene:HS11066, ModBase:O14929, NCBI Gene:8520, OMIM:603053, RefSeq DNA:NT_005403, RefSeq Protein:NP_001028257, RefSeq Protein:NP_003633, RefSeq RNA:NM_001033085, RefSeq RNA:NM_003642, RefSeq RNA:NR_027862, UCSC Genome Browser:NM_003642, UniProtKB:O14929 No chr2 172778935 172848600 171922425 171983686 +PA165429013 115106 HGNC:25174 ENSG00000152240 HAUS augmin like complex subunit 1 HAUS1 HAUS augmin-like complex, subunit 1 CCDC5, FLJ40084, HEI-C, HsT1461 Yes No Comparative Toxicogenomics Database:115106, Ensembl:ENSG00000152240, GeneCard:HAUS1, HGNC:HGNC:25174, HumanCyc Gene:HS14419, ModBase:Q96CS2, NCBI Gene:115106, OMIM:608775, RefSeq DNA:NT_010966, RefSeq Protein:NP_612452, RefSeq RNA:NM_138443, RefSeq RNA:NR_026978, UniProtKB:Q96CS2 No chr18 43684298 43708299 46104332 46128333 +PA165479051 55142 HGNC:25530 ENSG00000137814 HAUS augmin like complex subunit 2 HAUS2 HAUS augmin-like complex, subunit 2 C15orf25, CEP27, FLJ10460, HsT17025 Yes No Ensembl:ENSG00000137814, GeneCard:HAUS2, HGNC:HGNC:25530, HumanCyc Gene:HS13695, ModBase:Q9NVX0, NCBI Gene:55142, OMIM:613429, RefSeq DNA:NT_010194, RefSeq Protein:NP_001123919, RefSeq Protein:NP_060567, RefSeq RNA:NM_001130447, RefSeq RNA:NM_018097, UniProtKB:C9JH36, UniProtKB:Q9NVX0 No chr15 42841011 42862192 42548813 42569994 +PA165664132 79441 HGNC:28719 ENSG00000214367 HAUS augmin like complex subunit 3 HAUS3 HAUS augmin-like complex, subunit 3 C4orf15, IT1, MGC4701, dgt3 Yes No Comparative Toxicogenomics Database:79441, Ensembl:ENSG00000214367, GeneCard:HAUS3, HGNC:HGNC:28719, ModBase:Q68CZ6, NCBI Gene:79441, OMIM:613430, RefSeq DNA:NT_006051, RefSeq DNA:NT_006081, RefSeq Protein:NP_078787, RefSeq RNA:NM_024511, UniProtKB:Q68CZ6 No chr4 2230096 2243860 2231836 2242164 +PA165478984 54930 HGNC:20163 ENSG00000092036 HAUS augmin like complex subunit 4 HAUS4 HAUS augmin-like complex, subunit 4 C14orf94, FLJ20424 Yes No Ensembl:ENSG00000092036, GeneCard:HAUS4, HGNC:HGNC:20163, HumanCyc Gene:HS12343, NCBI Gene:54930, OMIM:613431, RefSeq DNA:NT_026437, RefSeq Protein:NP_001159741, RefSeq Protein:NP_001159742, RefSeq Protein:NP_060285, RefSeq RNA:NM_001166269, RefSeq RNA:NM_001166270, RefSeq RNA:NM_017815, UniProtKB:Q9H6D7 No chr14 23415437 23426352 22946228 22957142 +PA165393415 23354 HGNC:29130 ENSG00000249115 HAUS augmin like complex subunit 5 HAUS5 HAUS augmin-like complex, subunit 5 KIAA0841, dgt5 Yes No Ensembl:ENSG00000249115, GeneCard:HAUS5, HGNC:HGNC:29130, ModBase:O94927, NCBI Gene:23354, OMIM:613432, RefSeq DNA:NT_011109, RefSeq Protein:NP_056117, RefSeq RNA:NM_015302, RefSeq RNA:XM_049237, RefSeq RNA:XM_932172, RefSeq RNA:XM_932173, RefSeq RNA:XM_932178, RefSeq RNA:XM_932182, RefSeq RNA:XM_932185, RefSeq RNA:XM_932189, RefSeq RNA:XM_932191, RefSeq RNA:XM_932194, RefSeq RNA:XM_942304, RefSeq RNA:XM_945889, RefSeq RNA:XM_945890, RefSeq RNA:XM_945892, RefSeq RNA:XM_945893, RefSeq RNA:XM_945894, RefSeq RNA:XM_945895, RefSeq RNA:XM_945896, RefSeq RNA:XM_945897, RefSeq RNA:XM_945898, UniProtKB:O94927 No chr19 36103646 36116251 35612744 35625349 +PA165585815 54801 HGNC:25948 ENSG00000147874 HAUS augmin like complex subunit 6 HAUS6 HAUS augmin-like complex, subunit 6 FAM29A, FLJ20060, KIAA1574, dgt6 Yes No Ensembl:ENSG00000147874, GeneCard:HAUS6, HGNC:HGNC:25948, HumanCyc Gene:HS14223, ModBase:Q9H998, NCBI Gene:54801, OMIM:613433, RefSeq DNA:NT_008413, RefSeq DNA:NT_079592, RefSeq Protein:NP_060115, RefSeq RNA:NM_017645, UniProtKB:Q7Z4H7 No chr9 19053135 19102940 19053137 19102942 +PA165756645 55559 HGNC:32979 ENSG00000213397 HAUS augmin like complex subunit 7 HAUS7 """26S proteasome-associated UCH interacting protein 1"", ""HAUS augmin-like complex, subunit 7"", ""UCH37 interacting protein 1""" UCHL5IP, UIP1 Yes No Ensembl:ENSG00000213397, GeneCard:HAUS7, HGNC:HGNC:32979, NCBI Gene:55559, OMIM:300540, RefSeq DNA:NG_012688, RefSeq DNA:NT_011726, RefSeq DNA:NT_011726.13, RefSeq DNA:NT_167198, RefSeq Protein:NP_059988, RefSeq Protein:NP_996990, RefSeq RNA:NM_017518, RefSeq RNA:NM_017518.5, RefSeq RNA:NM_207107, RefSeq RNA:NM_207107.2, UniProtKB:Q99871 No chrX 152713123 152760983 153447665 153495525 +PA165393466 93323 HGNC:30532 ENSG00000131351 HAUS augmin like complex subunit 8 HAUS8 HAUS augmin-like complex, subunit 8 HICE1, MGC20533, NY-SAR-48 Yes No Ensembl:ENSG00000131351, GeneCard:HAUS8, HGNC:HGNC:30532, NCBI Gene:93323, OMIM:613434, RefSeq DNA:NT_011295, RefSeq Protein:NP_001011699, RefSeq Protein:NP_219485, RefSeq RNA:NM_001011699, RefSeq RNA:NM_033417, UniProtKB:C9JBZ4, UniProtKB:Q9BT25 No chr19 17160571 17186428 17049761 17075533 +PA134924567 26762 HGNC:17866 ENSG00000113249 hepatitis A virus cellular receptor 1 HAVCR1 T-cell immunoglobulin mucin family member 1, kidney injury molecule 1 CD365, HAVCR, HAVCR-1, KIM1, TIM-1, TIM1, TIMD1 Yes No Comparative Toxicogenomics Database:26762, Ensembl:ENSG00000113249, GeneCard:HAVCR1, HGNC:HGNC:17866, HumanCyc Gene:HS03662, ModBase:Q96D42, NCBI Gene:26762, OMIM:147050, OMIM:606518, RefSeq DNA:NG_017001, RefSeq DNA:NT_023133, RefSeq Protein:NP_001092884, RefSeq Protein:NP_001166864, RefSeq Protein:NP_036338, RefSeq RNA:NM_001099414, RefSeq RNA:NM_001173393, RefSeq RNA:NM_012206, UniProtKB:Q96D42 No chr5 156455989 156486130 156979443 157059119 +PA134883425 84868 HGNC:18437 ENSG00000135077 hepatitis A virus cellular receptor 2 HAVCR2 T-cell immunoglobulin mucin family member 3 CD366, FLJ14428, TIM3, TIMD3, Tim-3 Yes Yes Comparative Toxicogenomics Database:84868, Ensembl:ENSG00000135077, GeneCard:HAVCR2, HGNC:HGNC:18437, HumanCyc Gene:HS05949, ModBase:Q8TDQ0, NCBI Gene:84868, OMIM:606652, RefSeq DNA:NT_023133, RefSeq Protein:NP_116171, RefSeq RNA:NM_032782, UniProtKB:Q8TDQ0 No chr5 156512843 156536248 157085832 157109237 +PA142671700 10456 HGNC:16915 ENSG00000143575 HCLS1 associated protein X-1 HAX1 HCLS1 (and PKD2) associated protein HAX-1, HCLSBP1, HS1BP1 Yes No Comparative Toxicogenomics Database:10456, Ensembl:ENSG00000143575, GeneCard:HAX1, HGNC:HGNC:16915, HumanCyc Gene:HS07080, NCBI Gene:10456, OMIM:605998, OMIM:610738, RefSeq DNA:NG_007369, RefSeq DNA:NT_004487, RefSeq Protein:NP_001018238, RefSeq Protein:NP_006109, RefSeq RNA:NM_001018837, RefSeq RNA:NM_006118, UniProtKB:O00165 No chr1 154245039 154248351 154272563 154275875 +PA29198 3039 HGNC:4823 ENSG00000188536, ENSG00000206172 hemoglobin subunit alpha 1 HBA1 hemoglobin, alpha 1 HBA-T3 Yes No Comparative Toxicogenomics Database:3039, Ensembl:ENSG00000188536, Ensembl:ENSG00000206172, GenAtlas:HBA1, GeneCard:HBA1, HGNC:HGNC:4823, NCBI Gene:3039, OMIM:140700, OMIM:141800, OMIM:604131, RefSeq DNA:NG_000006, RefSeq DNA:NT_010393, RefSeq Protein:NP_000549, RefSeq RNA:NM_000558, UCSC Genome Browser:NM_000558 No chr16 226679 227520 176651 177522 +PA29199 3040 HGNC:4824 ENSG00000188536, ENSG00000206172 hemoglobin subunit alpha 2 HBA2 hemoglobin, alpha 2 HBA-T2 Yes No Comparative Toxicogenomics Database:3040, Ensembl:ENSG00000188536, Ensembl:ENSG00000206172, GenAtlas:HBA2, GeneCard:HBA2, HGNC:HGNC:4824, NCBI Gene:3040, OMIM:140700, OMIM:141850, OMIM:604131, RefSeq DNA:NG_000006, RefSeq DNA:NT_010393, RefSeq Protein:NP_000508, RefSeq RNA:NM_000517, UCSC Genome Browser:NM_000517, UniProtKB:D1MGQ2, UniProtKB:P69905 No chr16 222846 223709 172847 173710 +PA29200 3041 HGNC:4825 ENSG00000225323 hemoglobin, alpha pseudogene 1 HBAP1 Yes No Ensembl:ENSG00000225323, GenAtlas:HBAP1, GeneCard:HBAP1, HGNC:HGNC:4825, NCBI Gene:3041, RefSeq DNA:NG_000006, RefSeq DNA:NT_037887 No chr16 218640 219451 168641 169452 +PA29202 3043 HGNC:4827 ENSG00000244734 hemoglobin subunit beta HBB hemoglobin, beta CD113t-C, HBD, beta-globin Yes No Comparative Toxicogenomics Database:3043, Ensembl:ENSG00000244734, GenAtlas:HBB, GeneCard:HBB, HGNC:HGNC:4827, ModBase:Q549N7, NCBI Gene:3043, OMIM:140700, OMIM:141900, OMIM:603902, OMIM:603903, OMIM:604131, RefSeq DNA:NG_000007, RefSeq DNA:NT_009237, RefSeq Protein:NP_000509, RefSeq RNA:NM_000518, UCSC Genome Browser:NM_000518, UniProtKB:P68871 No chr11 5246696 5248301 5225466 5227071 +PA29203 3044 HGNC:4828 ENSG00000229988 hemoglobin, beta pseudogene 1 HBBP1 Yes No Ensembl:ENSG00000229988, GenAtlas:HBBP1, GeneCard:HBBP1, HGNC:HGNC:4828, NCBI Gene:3044, RefSeq DNA:NT_009237, RefSeq RNA:NR_001589 No chr11 5263184 5264822 5241954 5243592 +PA29204 3045 HGNC:4829 ENSG00000223609 hemoglobin subunit delta HBD hemoglobin, delta HBK Yes No Comparative Toxicogenomics Database:3045, Ensembl:ENSG00000223609, GenAtlas:HBD, GeneCard:HBD, HGNC:HGNC:4829, ModBase:P02042, NCBI Gene:3045, OMIM:142000, RefSeq DNA:NG_000007, RefSeq DNA:NT_009237, RefSeq Protein:NP_000510, RefSeq RNA:NM_000519, UCSC Genome Browser:NM_000519, UniProtKB:A0N071, UniProtKB:P02042 No chr11 5254059 5255858 5232829 5234628 +PA29205 3046 HGNC:4830 ENSG00000213931 hemoglobin subunit epsilon 1 HBE1 hemoglobin, epsilon 1 HBE Yes No Comparative Toxicogenomics Database:3046, Ensembl:ENSG00000213931, GenAtlas:HBE1, GeneCard:HBE1, HGNC:HGNC:4830, HumanCyc Gene:HS10414, ModBase:P02100, NCBI Gene:3046, OMIM:142100, RefSeq DNA:NG_000007, RefSeq DNA:NT_009237, RefSeq Protein:NP_005321, RefSeq RNA:NM_005330, UCSC Genome Browser:NM_005330, UniProtKB:P02100 No chr11 5289580 5291373 5268350 5270143 +PA27513 1839 HGNC:3059 ENSG00000113070 heparin binding EGF like growth factor HBEGF Diphtheria toxin receptor (heparin-binding EGF-like growth factor), heparin-binding EGF-like growth factor, heparin-binding epidermal growth factor DTR, DTS, HEGFL Yes No Comparative Toxicogenomics Database:1839, Ensembl:ENSG00000113070, GenAtlas:HBEGF, GeneCard:HBEGF, HGNC:HGNC:3059, HumanCyc Gene:HS03644, ModBase:Q99075, NCBI Gene:1839, OMIM:126150, RefSeq DNA:NT_029289, RefSeq Protein:NP_001936, RefSeq RNA:NM_001945, UCSC Genome Browser:NM_001945, UniProtKB:Q99075 No chr5 139712428 139726188 140332843 140346603 +PA29206 3047 HGNC:4831 ENSG00000213934 hemoglobin subunit gamma 1 HBG1 """fetal hemoglobin F subunit gamma 1"", ""hemoglobin, gamma A""" HBG-T2 Yes No Comparative Toxicogenomics Database:3047, Ensembl:ENSG00000213934, GenAtlas:HBG1, GeneCard:HBG1, HGNC:HGNC:4831, ModBase:P69891, NCBI Gene:3047, OMIM:141749, OMIM:142200, RefSeq DNA:NG_000007, RefSeq DNA:NT_009237, RefSeq Protein:NP_000550, RefSeq RNA:NM_000559, UCSC Genome Browser:NM_000559, UniProtKB:P69891 No chr11 5269502 5271087 5248272 5249857 +PA29207 3048 HGNC:4832 ENSG00000196565 hemoglobin subunit gamma 2 HBG2 """fetal hemoglobin F subunit gamma 2"", ""hemoglobin, gamma G""" HBG-T1 Yes Yes Comparative Toxicogenomics Database:3048, Ensembl:ENSG00000196565, GenAtlas:HBG2, GeneCard:HBG2, HGNC:HGNC:4832, HumanCyc Gene:HS10415, ModBase:P69892, NCBI Gene:3048, OMIM:141749, OMIM:142250, RefSeq DNA:NG_000007, RefSeq DNA:NT_009237, RefSeq Protein:NP_000175, RefSeq RNA:NM_000184, UCSC Genome Browser:NM_000184, UniProtKB:P69892 No chr11 5274421 5276011 5253191 5254781 +PA29201 3042 HGNC:4826 ENSG00000206177 hemoglobin subunit mu HBM hemoglobin, mu HBAP2, HBK Yes No Ensembl:ENSG00000206177, GenAtlas:HBM, GeneCard:HBM, HGNC:HGNC:4826, ModBase:Q6B0K9, NCBI Gene:3042, OMIM:609639, RefSeq DNA:NG_000006, RefSeq DNA:NT_010393, RefSeq Protein:NP_001003938, RefSeq RNA:NM_001003938, UniProtKB:Q6B0K9 No chr16 215973 216767 165974 166768 +PA134901346 26959 HGNC:23200 ENSG00000105856 HMG-box transcription factor 1 HBP1 Yes No Comparative Toxicogenomics Database:26959, Ensembl:ENSG00000105856, GeneCard:HBP1, HGNC:HGNC:23200, HumanCyc Gene:HS02822, ModBase:O60381, NCBI Gene:26959, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_036389, RefSeq RNA:NM_012257, UniProtKB:O60381 No chr7 106809406 106842974 107168961 107202529 +PA29208 3049 HGNC:4833 ENSG00000086506 hemoglobin subunit theta 1 HBQ1 hemoglobin, theta 1 HBQ Yes No Comparative Toxicogenomics Database:3049, Ensembl:ENSG00000086506, GenAtlas:HBQ1, GeneCard:HBQ1, HGNC:HGNC:4833, HumanCyc Gene:HS01532, ModBase:P09105, NCBI Gene:3049, OMIM:142240, RefSeq DNA:NG_000006, RefSeq DNA:NT_010393, RefSeq Protein:NP_005322, RefSeq RNA:NM_005331, UCSC Genome Browser:NM_005331, UniProtKB:P09105 No chr16 230333 231178 180334 181179 +PA29209 10767 HGNC:4834 ENSG00000112339 HBS1 like translational GTPase HBS1L HBS1-like (S. cerevisiae), HBS1-like translational GTPase, eRF3 family member DKFZp434g247, EF-1a, ERFS, HBS1, HSPC276, KIAA1038, eRF3c Yes No Comparative Toxicogenomics Database:10767, Ensembl:ENSG00000112339, GenAtlas:HBS1L, GeneCard:HBS1L, HGNC:HGNC:4834, HumanCyc Gene:HS03563, ModBase:Q9Y450, NCBI Gene:10767, OMIM:612450, RefSeq DNA:NG_012002, RefSeq DNA:NT_025741, RefSeq Protein:NP_001138630, RefSeq Protein:NP_001138679, RefSeq Protein:NP_006611, RefSeq RNA:NM_001145158, RefSeq RNA:NM_001145207, RefSeq RNA:NM_006620, UCSC Genome Browser:NM_006620, UniProtKB:B7Z365, UniProtKB:Q9Y450 No chr6 135281516 135376036 134960378 135054898 +PA29212 3050 HGNC:4835 ENSG00000130656 hemoglobin subunit zeta HBZ hemoglobin, zeta HBZ-T1, HBZ1 Yes No Ensembl:ENSG00000130656, GenAtlas:HBZ, GeneCard:HBZ, HGNC:HGNC:4835, HumanCyc Gene:HS05416, ModBase:P02008, NCBI Gene:3050, OMIM:142310, RefSeq DNA:NG_000006, RefSeq DNA:NT_010393, RefSeq Protein:NP_005323, RefSeq RNA:NM_005332, UCSC Genome Browser:NM_005332, UniProtKB:P02008 No chr16 192921 204504 142422 154511 +PA29213 3051 HGNC:4836 ENSG00000206178 hemoglobin, zeta pseudogene 1 HBZP1 Yes No Ensembl:ENSG00000206178, GenAtlas:HBZP, GeneCard:HBZP1, HGNC:HGNC:4836, NCBI Gene:3051, RefSeq DNA:NG_000006, RefSeq DNA:NT_010393, RefSeq DNA:NT_037887 No chr16 213066 215204 163067 165205 +PA28925 27198 HGNC:4532 ENSG00000196917 hydroxycarboxylic acid receptor 1 HCAR1 lactate receptor 1 FKSG80, GPR104, GPR81, HCA1, LACR1, TA-GPCR Yes No Ensembl:ENSG00000196917, GenAtlas:GPR81, GeneCard:GPR81, HGNC:HGNC:4532, IUPHAR Receptor:311, ModBase:Q9BXC0, NCBI Gene:27198, OMIM:606923, RefSeq DNA:NT_009755, RefSeq Protein:NP_115943, RefSeq RNA:NM_032554, UCSC Genome Browser:NM_032554, UniProtKB:Q9BXC0 No chr12 123212153 123215129 122727606 122730582 +PA165961843 338442 HGNC:24827 ENSG00000182782 hydroxycarboxylic acid receptor 2 HCAR2 niacin receptor 1 GPR109A, HCA2, HM74A, NIACR1, PUMAG, Puma-g Yes Yes Ensembl:ENSG00000182782, GeneCard:GPR109A, HGNC:HGNC:24827, IUPHAR Receptor:312, NCBI Gene:338442, OMIM:609163, RefSeq DNA:NT_009755, RefSeq Protein:NP_808219, RefSeq RNA:NM_177551, UniProtKB:Q8TDS4 No chr12 123185840 123194392 122701293 122703357 +PA165512827 8843 HGNC:16824 ENSG00000255398 hydroxycarboxylic acid receptor 3 HCAR3 GPR109B, HCA3, HM74 Yes No Ensembl:ENSG00000255398, GeneCard:GPR109B, HGNC:HGNC:16824, IUPHAR Receptor:313, NCBI Gene:8843, OMIM:606039, RefSeq DNA:NT_009755, RefSeq Protein:NP_006009, RefSeq RNA:NM_006018, UniProtKB:P49019 No chr12 123199303 123201439 122714756 122716892 +PA29214 3052 HGNC:4837 ENSG00000004961 holocytochrome c synthase HCCS cytochrome c heme-lyase, holocytochrome-c synthetase CCHL, MLS Yes No Comparative Toxicogenomics Database:3052, Ensembl:ENSG00000004961, GenAtlas:HCCS, GeneCard:HCCS, HGNC:HGNC:4837, HumanCyc Gene:HS00120, NCBI Gene:3052, OMIM:300056, OMIM:309801, RefSeq DNA:NG_016460, RefSeq DNA:NT_167197, RefSeq Protein:NP_001116080, RefSeq Protein:NP_001165462, RefSeq Protein:NP_005324, RefSeq RNA:NM_001122608, RefSeq RNA:NM_001171991, RefSeq RNA:NM_005333, UCSC Genome Browser:NM_005333, UniProtKB:P53701 No chrX 11129406 11141206 11111286 11123086 +PA29215 3054 HGNC:4839 ENSG00000172534 host cell factor C1 HCFC1 """VP16-accessory protein"", ""host cell factor C1 (VP16-accessory protein)"", ""protein phosphatase 1, regulatory subunit 89""" CFF, HCF-1, HCF1, HFC1, MGC70925, MRX3, PPP1R89, VCAF Yes No Comparative Toxicogenomics Database:3054, Ensembl:ENSG00000172534, GenAtlas:HCFC1, GeneCard:HCFC1, HGNC:HGNC:4839, HumanCyc Gene:HS10535, ModBase:P51610, NCBI Gene:3054, OMIM:300019, RefSeq DNA:NG_012513, RefSeq DNA:NT_167198, RefSeq Protein:NP_005325, RefSeq RNA:NM_005334, UCSC Genome Browser:NM_005334, UniProtKB:P51610 No chrX 153213008 153237284 153947556 153971833 +PA134951485 54985 HGNC:21198 ENSG00000103145 host cell factor C1 regulator 1 HCFC1R1 host cell factor C1 regulator 1 (XPO1 dependent) FLJ20568, HPIP Yes No Comparative Toxicogenomics Database:54985, Ensembl:ENSG00000103145, GeneCard:HCFC1R1, HGNC:HGNC:21198, HumanCyc Gene:HS12513, NCBI Gene:54985, RefSeq DNA:NT_010393, RefSeq Protein:NP_001002017, RefSeq Protein:NP_001002018, RefSeq Protein:NP_060355, RefSeq RNA:NM_001002017, RefSeq RNA:NM_001002018, RefSeq RNA:NM_017885, UniProtKB:Q9NWW0 No chr16 3072626 3074287 3022620 3024286 +PA134868925 29915 HGNC:24972 ENSG00000111727 host cell factor C2 HCFC2 HCF-2 Yes No Ensembl:ENSG00000111727, GeneCard:HCFC2, HGNC:HGNC:24972, HumanCyc Gene:HS03455, ModBase:Q9Y5Z7, NCBI Gene:29915, OMIM:607926, RefSeq DNA:NT_029419, RefSeq Protein:NP_037452, RefSeq RNA:NM_013320, UniProtKB:Q9Y5Z7 No chr12 104458236 104500302 104064458 104108954 +PA134973711 493812 HGNC:17707 ENSG00000228223 HLA complex group 11 (non-protein coding) HCG11 FLJ14049, FLJ30357, bK14H9.3 Yes No Ensembl:ENSG00000228223, GeneCard:HCG11, HGNC:HGNC:17707, NCBI Gene:493812, RefSeq DNA:NT_007592, RefSeq RNA:NR_026790 No chr6 26521934 26527621 26521706 26527393 +PA134951758 493813 HGNC:17724 HLA complex group 13 pseudogene HCG13P dJ193B12.5 Yes No GeneCard:HCG13P, HGNC:HGNC:17724, NCBI Gene:493813 No chr6 +PA134898948 414760 HGNC:18323 ENSG00000224157 HLA complex group 14 (non-protein coding) HCG14 dJ111M5.4 Yes No Ensembl:ENSG00000224157, GeneCard:HCG14, HGNC:HGNC:18323, NCBI Gene:414760 No chr6 28864145 28865099 28896530 28897320 +PA134866422 414761 HGNC:18361 ENSG00000227214 HLA complex group 15 (non-protein coding) HCG15 HCG16, dJ25J6.6 Yes No Ensembl:ENSG00000227214, GeneCard:HCG15, HGNC:HGNC:18361, NCBI Gene:414761 No chr6 +PA134883976 414778 HGNC:31339 ENSG00000270604 HLA complex group 17 (non-protein coding) HCG17 long intergenic non-protein coding RNA 46, non-protein coding RNA 46 LINC00046, NCRNA00046 Yes No Ensembl:ENSG00000270604, GeneCard:HCG17, HGNC:HGNC:31339, NCBI Gene:414778 No chr6 30201816 30293911 30234039 30326134 +PA134917494 414777 HGNC:31337 ENSG00000231074 HLA complex group 18 (non-protein coding) HCG18 Em:AB014087.1, FLJ25550, FLJ31598 Yes No Comparative Toxicogenomics Database:414777, Ensembl:ENSG00000231074, GeneCard:HCG18, HGNC:HGNC:31337, NCBI Gene:414777, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_024052, RefSeq RNA:NR_024053 No chr6 30255174 30294933 30287397 30327156 +PA134959660 414776 HGNC:31336 HLA complex group 19 pseudogene HCG19P AB014085.4 Yes No GeneCard:HCG19P, HGNC:HGNC:31336, NCBI Gene:414776 No chr6 +PA134978345 105375013 HGNC:31334 ENSG00000228022 HLA complex group 20 (non-protein coding) HCG20 non-protein coding RNA 149 AB023051.1, NCRNA00149 Yes No Ensembl:ENSG00000228022, GeneCard:HCG20, HGNC:HGNC:31334, NCBI Gene:105375013 No chr6 +PA134970730 102723346 HGNC:31335 ENSG00000233529 HLA complex group 21 (non-protein coding) HCG21 non-protein coding RNA 150 AB023048.2, NCRNA00150 Yes No Ensembl:ENSG00000233529, GeneCard:HCG21, HGNC:HGNC:31335, NCBI Gene:102723346 No chr6 +PA134876212 285834 HGNC:27780 ENSG00000228789 HLA complex group 22 (gene/pseudogene) HCG22 HLA complex group 22, HLA complex group 22 (non-protein coding), panbronchiolitis related mucin-like 2 FLJ37114, PBMUCL2 Yes Yes Ensembl:ENSG00000228789, GeneCard:HCG22, HGNC:HGNC:27780, NCBI Gene:285834, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_003948 No chr6 31021227 31027667 31053450 31059890 +PA134909201 414764 HGNC:19713 HLA complex group 23 (non-protein coding) HCG23 dJ1077I5.3 Yes No GeneCard:HCG23, HGNC:HGNC:19713, NCBI Gene:414764 No chr6 32358287 32361468 32390510 32393691 +PA134867980 414768 HGNC:23500 ENSG00000230313 HLA complex group 24 (non-protein coding) HCG24 dJ1033B10.15 Yes No Ensembl:ENSG00000230313, GeneCard:HCG24, HGNC:HGNC:23500, NCBI Gene:414768 No chr6 +PA134898257 414765 HGNC:20196 ENSG00000232940 HLA complex group 25 (non-protein coding) HCG25 dJ1033B10.16 Yes No Ensembl:ENSG00000232940, GeneCard:HCG25, HGNC:HGNC:20196, NCBI Gene:414765 No chr6 33217313 33222667 33249536 33254890 +PA134891379 352961 HGNC:29671 HLA complex group 26 (non-protein coding) HCG26 non-protein coding RNA 191 NCRNA00191, bCX205D4.4, bPG181B23.4 Yes No GeneCard:HCG26, HGNC:HGNC:29671, NCBI Gene:352961, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_002812 No chr6 31439006 31440185 31471229 31472408 +PA134918966 253018 HGNC:27366 ENSG00000206344 HLA complex group 27 (non-protein coding) HCG27 FLJ40123, bCX101P6.9, bPG299F13.9, bQB115I13.2 Yes No Ensembl:ENSG00000206344, GeneCard:HCG27, HGNC:HGNC:27366, NCBI Gene:253018, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_026791 No chr6 31165537 31171745 31197760 31203968 +PA134906359 54435 HGNC:21241 ENSG00000176998 HLA complex group 4 (non-protein coding) HCG4 HCG4P10, HCGIV-10, HCGIV.9 Yes No Ensembl:ENSG00000176998, GeneCard:HCG4, HGNC:HGNC:21241, HumanCyc Gene:HS16773, NCBI Gene:54435, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_002139 No chr6 29758808 29760850 29791031 29793073 +PA134990504 80868 HGNC:22919 ENSG00000227262 HLA complex group 4B (non-protein coding) HCG4B HCGIV-6 pseudogene Em:AB023056.16, HCGIV-06, HCGIV-6, HCGIV.5, bCX67J3.3, bPG309N1.1, bQB90C11.3 Yes No Ensembl:ENSG00000227262, GeneCard:HCG4P6, HGNC:HGNC:22919, NCBI Gene:80868, RefSeq DNA:NG_002398, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_001317 No chr6 29892369 29894992 29924592 29927215 +PA134960001 387503 HGNC:30978 HLA complex group 4 pseudogene 1 HCG4P1 HCGIV-01 Yes No GeneCard:HCG4P1, HGNC:HGNC:30978, NCBI Gene:387503 No chr6 +PA134980625 353020 HGNC:22930 HLA complex group 4 pseudogene 11 HCG4P11 HCGIV-11 pseudogene HCGIV-11, HCGIV.10 Yes No GeneCard:HCG4P11, HGNC:HGNC:22930, NCBI Gene:353020, RefSeq DNA:NG_002744, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29688955 29689944 29721178 29722167 +PA134952476 387504 HGNC:30979 HLA complex group 4 pseudogene 2 HCG4P2 HCGIV-02 Yes No GeneCard:HCG4P2, HGNC:HGNC:30979, NCBI Gene:387504 No chr6 +PA134864741 353001 HGNC:22922 HLA complex group 4 pseudogene 3 HCG4P3 HCGIV-03 pseudogene HCGIV-03, HCGIV-3, HCGIV.2 Yes No GeneCard:HCG4P3, HGNC:HGNC:22922, NCBI Gene:353001, RefSeq DNA:NG_002398, RefSeq DNA:NG_016112, RefSeq DNA:NT_007592 No chr6 29972622 29973605 30004845 30005828 +PA134974071 353002 HGNC:22924 HLA complex group 4 pseudogene 4 HCG4P4 HCGIV-04 pseudogene HCGIV-04, HCGIV-4, HCGIV.3 Yes No GeneCard:HCG4P4, HGNC:HGNC:22924, NCBI Gene:353002, RefSeq DNA:NG_002398, RefSeq DNA:NG_016113, RefSeq DNA:NT_007592 No chr6 29922982 29923410 29955205 29955633 +PA134963342 353003 HGNC:22925 HLA complex group 4 pseudogene 5 HCG4P5 HCGIV-05 pseudogene HCGIV-05, HCGIV-5, HCGIV.4 Yes No GeneCard:HCG4P5, HGNC:HGNC:22925, NCBI Gene:353003, RefSeq DNA:NG_002398, RefSeq DNA:NG_016115, RefSeq DNA:NT_007592 No chr6 29908689 29909578 29940912 29941801 +PA134981302 353004 HGNC:22926 HLA complex group 4 pseudogene 7 HCG4P7 HCGIV-07 pseudogene HCGIV-07, HCGIV-7, HCGIV.C Yes No GeneCard:HCG4P7, HGNC:HGNC:22926, NCBI Gene:353004, RefSeq DNA:NG_002398, RefSeq DNA:NG_016116, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891 No chr6 29853887 29854784 29886110 29887007 +PA134903354 353005 HGNC:22927 ENSG00000229142 HLA complex group 4 pseudogene 8 HCG4P8 HCGIV-08 pseudogene HCGIV-08, HCGIV-8, HCGIV.7 Yes No Ensembl:ENSG00000229142, GeneCard:HCG4P8, HGNC:HGNC:22927, NCBI Gene:353005, RefSeq DNA:NG_002398, RefSeq DNA:NG_016117, RefSeq DNA:NT_113891 No chr6 29793906 29794891 29826129 29827114 +PA134861088 353014 HGNC:22928 HLA complex group 4 pseudogene 9 HCG4P9 HCGIV-09 pseudogene HCGIV-09, HCGIV-9 Yes No GeneCard:HCG4P9, HGNC:HGNC:22928, NCBI Gene:353014, RefSeq DNA:NG_002739, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29766201 29767903 29798424 29800126 +PA134986814 10255 HGNC:21243 ENSG00000204625 HLA complex group 9 (non-protein coding) HCG9 HCGIX, HCGIX-4, HCGIX4, PERB11 Yes No Ensembl:ENSG00000204625, GeneCard:HCG9, HGNC:HGNC:21243, NCBI Gene:10255, RefSeq DNA:NG_002398, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_005835, RefSeq RNA:NM_005844, RefSeq RNA:NR_028032 No chr6 29942892 29946180 29975115 29978403 +PA134900960 387505 HGNC:30980 HLA complex group 9 pseudogene 1 HCG9P1 HCGIX-1 Yes No GeneCard:HCG9P1, HGNC:HGNC:30980, NCBI Gene:387505 No chr6 +PA134894543 387506 HGNC:30981 HLA complex group 9 pseudogene 2 HCG9P2 HCGIX-2 Yes No GeneCard:HCG9P2, HGNC:HGNC:30981, NCBI Gene:387506 No chr6 +PA134926637 387507 HGNC:30982 HLA complex group 9 pseudogene 3 HCG9P3 HCGIX-3.2 Yes No GeneCard:HCG9P3, HGNC:HGNC:30982, NCBI Gene:387507 No chr6 +PA134950035 353019 HGNC:30983 HLA complex group 9 pseudogene 5 HCG9P5 HCGIX-5, dJ377H14.6 Yes No GeneCard:HCG9P5, HGNC:HGNC:30983, NCBI Gene:353019, RefSeq DNA:NG_002743, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29716031 29716425 29748254 29748648 +PA29216 3055 HGNC:4840 ENSG00000101336 HCK proto-oncogene, Src family tyrosine kinase HCK hemopoietic cell kinase JTK9 Yes No Comparative Toxicogenomics Database:3055, Ensembl:ENSG00000101336, GenAtlas:HCK, GeneCard:HCK, HGNC:HGNC:4840, HumanCyc Gene:HS02246, ModBase:Q9NUA4, NCBI Gene:3055, OMIM:142370, RefSeq DNA:NT_011362, RefSeq Protein:NP_001165600, RefSeq Protein:NP_001165601, RefSeq Protein:NP_001165602, RefSeq Protein:NP_001165603, RefSeq Protein:NP_001165604, RefSeq Protein:NP_002101, RefSeq RNA:NM_001172129, RefSeq RNA:NM_001172130, RefSeq RNA:NM_001172131, RefSeq RNA:NM_001172132, RefSeq RNA:NM_001172133, RefSeq RNA:NM_002110, UCSC Genome Browser:NM_002110, UniProtKB:A8K1I1, UniProtKB:A8K4G3, UniProtKB:P08631 No chr20 30639991 30689659 32052188 32101856 +PA29220 3059 HGNC:4844 ENSG00000180353 hematopoietic cell-specific Lyn substrate 1 HCLS1 cortactin-like CTTNL, HS1 Yes No Comparative Toxicogenomics Database:3059, Ensembl:ENSG00000180353, GenAtlas:HCLS1, GeneCard:HCLS1, HGNC:HGNC:4844, HumanCyc Gene:HS11486, ModBase:P14317, NCBI Gene:3059, OMIM:601306, RefSeq DNA:NT_005612, RefSeq Protein:NP_005326, RefSeq RNA:NM_005335, UCSC Genome Browser:NM_005335, UniProtKB:P14317 No chr3 121350246 121379791 121631398 121660948 +PA77 348980 HGNC:4845 ENSG00000164588 hyperpolarization activated cyclic nucleotide gated potassium channel 1 HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1 BCNG-1, BCNG1, HAC-2 Yes Yes Ensembl:ENSG00000164588, GenAtlas:HCN1, GeneCard:HCN1, HGNC:HGNC:4845, IUPHAR Receptor:400, ModBase:O60741, NCBI Gene:348980, OMIM:602780, RefSeq DNA:NT_006576, RefSeq Protein:NP_066550, RefSeq RNA:NM_021072, UCSC Genome Browser:NM_021072, UniProtKB:O60741, UniProtKB:Q86WJ6 No chr5 45255052 45696220 45254950 45696118 +PA78 610 HGNC:4846 ENSG00000099822 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 HCN2 hyperpolarization activated cyclic nucleotide-gated potassium channel 2 BCNG-2, BCNG2, HAC-1 Yes No Comparative Toxicogenomics Database:610, Ensembl:ENSG00000099822, GenAtlas:HCN2, GeneCard:HCN2, HGNC:HGNC:4846, HumanCyc Gene:HS01916, IUPHAR Receptor:401, ModBase:Q9UL51, NCBI Gene:610, OMIM:602781, RefSeq DNA:NT_011255, RefSeq Protein:NP_001185, RefSeq RNA:NM_001194, UCSC Genome Browser:NM_001194, UniProtKB:Q9UL51 No chr19 589893 617159 589893 617159 +PA38821 57657 HGNC:19183 ENSG00000143630 hyperpolarization activated cyclic nucleotide gated potassium channel 3 HCN3 hyperpolarization activated cyclic nucleotide-gated potassium channel 3 KIAA1535 Yes No Comparative Toxicogenomics Database:57657, Ensembl:ENSG00000143630, GenAtlas:HCN3, GeneCard:HCN3, HGNC:HGNC:19183, HumanCyc Gene:HS07089, IUPHAR Receptor:402, ModBase:Q9P1Z3, NCBI Gene:57657, OMIM:609973, RefSeq DNA:NT_004487, RefSeq Protein:NP_065948, RefSeq RNA:NM_020897, UniProtKB:Q86WJ5, UniProtKB:Q9P1Z3 No chr1 155247218 155259639 155277427 155289848 +PA394 10021 HGNC:16882 ENSG00000138622 hyperpolarization activated cyclic nucleotide gated potassium channel 4 HCN4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 Yes No Comparative Toxicogenomics Database:10021, Ensembl:ENSG00000138622, GenAtlas:HCN4, GeneCard:HCN4, HGNC:HGNC:16882, HumanCyc Gene:HS06520, IUPHAR Receptor:403, ModBase:Q9Y3Q4, NCBI Gene:10021, OMIM:163800, OMIM:605206, OMIM:613123, RefSeq DNA:NG_009063, RefSeq DNA:NT_010194, RefSeq Protein:NP_005468, RefSeq RNA:NM_005477, UCSC Genome Browser:NM_005477, UniProtKB:Q9Y3Q4 No chr15 73612200 73661605 73319859 73369264 +PA134951826 10866 HGNC:21659 ENSG00000206337 HLA complex P5 (non-protein coding) HCP5 D6S2650E, P5-1 Yes Yes Ensembl:ENSG00000206337, GeneCard:HCP5, HGNC:HGNC:21659, NCBI Gene:10866, OMIM:604676, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167249, RefSeq Protein:NP_006665, RefSeq RNA:NM_006674, UniProtKB:Q6MZN7 No chr6 31430957 31433586 31463180 31465809 +PA134865940 352990 HGNC:30984 ENSG00000281831 HLA complex P5B (non-protein coding) HCP5B P5-10, P5.9 Yes No Ensembl:ENSG00000281831, GeneCard:HCP5B, HGNC:HGNC:30984, NCBI Gene:352990, RefSeq DNA:NG_002398, RefSeq DNA:NT_113891, RefSeq RNA:NR_031762 No chr6 +PA29221 3060 HGNC:4847 ENSG00000161610 hypocretin neuropeptide precursor HCRT hypocretin (orexin) neuropeptide precursor, orexin, prepro-orexin OX, PPOX Yes No Comparative Toxicogenomics Database:3060, Ensembl:ENSG00000161610, GenAtlas:HCRT, GeneCard:HCRT, HGNC:HGNC:4847, HumanCyc Gene:HS08599, NCBI Gene:3060, OMIM:161400, OMIM:602358, RefSeq DNA:NG_011448, RefSeq DNA:NT_010783, RefSeq Protein:NP_001515, RefSeq RNA:NM_001524, UCSC Genome Browser:NM_001524, UniProtKB:O43612 No chr17 40336078 40337470 42184060 42185452 +PA29222 3061 HGNC:4848 ENSG00000121764 hypocretin receptor 1 HCRTR1 hypocretin (orexin) receptor 1, orexin receptor 1 ORXR1, OX1R, OXR1 Yes No Comparative Toxicogenomics Database:3061, Ensembl:ENSG00000121764, GenAtlas:HCRTR1, GeneCard:HCRTR1, HGNC:HGNC:4848, HumanCyc Gene:HS04519, IUPHAR Receptor:321, ModBase:O43613, NCBI Gene:3061, OMIM:602392, RefSeq DNA:NT_032977, RefSeq Protein:NP_001516, RefSeq RNA:NM_001525, UCSC Genome Browser:NM_001525, UniProtKB:O43613 No chr1 32083290 32093214 31617700 31632518 +PA29223 3062 HGNC:4849 ENSG00000137252 hypocretin receptor 2 HCRTR2 hypocretin (orexin) receptor 2, orexin receptor 2 ORXR2, OX2R, OXR2 Yes No Comparative Toxicogenomics Database:3062, Ensembl:ENSG00000137252, GenAtlas:HCRTR2, GeneCard:HCRTR2, HGNC:HGNC:4849, HumanCyc Gene:HS06297, IUPHAR Receptor:322, ModBase:O43614, NCBI Gene:3062, OMIM:602393, RefSeq DNA:NG_012447, RefSeq DNA:NT_007592, RefSeq Protein:NP_001517, RefSeq RNA:NM_001526, UCSC Genome Browser:NM_001526, UniProtKB:O43614 No chr6 55039071 55147538 55174273 55284698 +PA134956649 10870 HGNC:16977 ENSG00000126264 hematopoietic cell signal transducer HCST DNAX-activation protein 10, kinase assoc pro of ~10kDa DAP10, DKFZP586C1522, KAP10, PIK3AP Yes No Comparative Toxicogenomics Database:10870, Ensembl:ENSG00000126264, GeneCard:HCST, HGNC:HGNC:16977, HumanCyc Gene:HS05008, NCBI Gene:10870, OMIM:604089, RefSeq DNA:NT_011109, RefSeq Protein:NP_001007470, RefSeq Protein:NP_055081, RefSeq RNA:NM_001007469, RefSeq RNA:NM_014266, UniProtKB:Q9UBK5 No chr19 36393382 36395173 35902365 35904271 +PA29226 3065 HGNC:4852 ENSG00000116478 histone deacetylase 1 HDAC1 GON-10, HD1, KDAC1, RPD3L1 Yes Yes Comparative Toxicogenomics Database:3065, Ensembl:ENSG00000116478, GenAtlas:HDAC1, GeneCard:HDAC1, HGNC:HGNC:4852, HumanCyc Gene:HS04015, ModBase:Q13547, NCBI Gene:3065, OMIM:601241, RefSeq DNA:NT_032977, RefSeq Protein:NP_004955, RefSeq RNA:NM_004964, UCSC Genome Browser:NM_004964, UniProtKB:Q13547, UniProtKB:Q6IT96 No chr1 32757708 32799227 32292103 32333628 +PA38297 83933 HGNC:18128 ENSG00000100429 histone deacetylase 10 HDAC10 DKFZP761B039 Yes No Comparative Toxicogenomics Database:83933, Ensembl:ENSG00000100429, GenAtlas:HDAC10, GeneCard:HDAC10, HGNC:HGNC:18128, HumanCyc Gene:HS12410, ModBase:Q969S8, NCBI Gene:83933, OMIM:608544, RefSeq DNA:NT_011526, RefSeq Protein:NP_001152758, RefSeq Protein:NP_114408, RefSeq RNA:NM_001159286, RefSeq RNA:NM_032019, UCSC Genome Browser:NM_032019, UniProtKB:Q969S8 No chr22 50683612 50689834 50245183 50251405 +PA38793 79885 HGNC:19086 ENSG00000163517 histone deacetylase 11 HDAC11 Yes No Comparative Toxicogenomics Database:79885, Ensembl:ENSG00000163517, GenAtlas:HDAC11, GeneCard:HDAC11, HGNC:HGNC:19086, HumanCyc Gene:HS08867, ModBase:Q96DB2, NCBI Gene:79885, OMIM:607226, RefSeq DNA:NT_022517, RefSeq Protein:NP_001129513, RefSeq Protein:NP_079103, RefSeq RNA:NM_001136041, RefSeq RNA:NM_024827, UCSC Genome Browser:NM_024827, UniProtKB:B4DDK1, UniProtKB:Q96DB2 No chr3 13521671 13547924 13480171 13506424 +PA29227 3066 HGNC:4853 ENSG00000196591 histone deacetylase 2 HDAC2 KDAC2, RPD3, YAF1 Yes No Comparative Toxicogenomics Database:3066, Ensembl:ENSG00000196591, GenAtlas:HDAC2, GeneCard:HDAC2, HGNC:HGNC:4853, HumanCyc Gene:HS07343, ModBase:Q92769, NCBI Gene:3066, OMIM:605164, RefSeq DNA:NT_025741, RefSeq Protein:NP_001518, RefSeq RNA:NM_001527, RefSeq RNA:NR_033441, UCSC Genome Browser:NM_001527, UniProtKB:Q92769 No chr6 114257320 114292359 113936156 113971195 +PA29228 8841 HGNC:4854 ENSG00000171720 histone deacetylase 3 HDAC3 HD3, KDAC3, RPD3, RPD3-2 Yes No Comparative Toxicogenomics Database:8841, Ensembl:ENSG00000171720, GenAtlas:HDAC3, GeneCard:HDAC3, HGNC:HGNC:4854, HumanCyc Gene:HS10370, ModBase:O15379, NCBI Gene:8841, OMIM:605166, RefSeq DNA:NT_029289, RefSeq Protein:NP_003874, RefSeq RNA:NM_003883, UCSC Genome Browser:NM_003883, UniProtKB:O15379 No chr5 141000443 141016423 141620876 141636860 +PA29229 9759 HGNC:14063 ENSG00000068024 histone deacetylase 4 HDAC4 BDMR, HA6116, HD4, HDAC-4, HDAC-A, HDACA, KIAA0288 Yes No Comparative Toxicogenomics Database:9759, Ensembl:ENSG00000068024, GenAtlas:HDAC4, GeneCard:HDAC4, HGNC:HGNC:14063, HumanCyc Gene:HS00927, ModBase:P56524, NCBI Gene:9759, OMIM:605314, RefSeq DNA:NG_009235, RefSeq DNA:NT_022173, RefSeq Protein:NP_006028, RefSeq RNA:NM_006037, UCSC Genome Browser:NM_006037, UniProtKB:P56524, UniProtKB:Q86YH7 No chr2 239969864 240323346 239048168 239401647 +PA29230 10014 HGNC:14068 ENSG00000108840 histone deacetylase 5 HDAC5 FLJ90614, KIAA0600, NY-CO-9 Yes No Comparative Toxicogenomics Database:10014, Ensembl:ENSG00000108840, GenAtlas:HDAC5, GeneCard:HDAC5, HGNC:HGNC:14068, HumanCyc Gene:HS03168, ModBase:Q9UQL6, NCBI Gene:10014, OMIM:605315, RefSeq DNA:NT_010783, RefSeq Protein:NP_001015053, RefSeq Protein:NP_005465, RefSeq RNA:NM_001015053, RefSeq RNA:NM_005474, UCSC Genome Browser:NM_005474, UniProtKB:Q9UQL6 No chr17 42154121 42201014 44076753 44123646 +PA29231 10013 HGNC:14064 ENSG00000094631 histone deacetylase 6 HDAC6 """alpha-tubulin deacetylase HDAC6"", ""protein phosphatase 1, regulatory subunit 90""" FLJ16239, HD6, JM21, KDAC6, KIAA0901, PPP1R90 Yes No Comparative Toxicogenomics Database:10013, Ensembl:ENSG00000094631, GenAtlas:HDAC6, GeneCard:HDAC6, HGNC:HGNC:14064, HumanCyc Gene:HS01799, ModBase:Q9UBN7, NCBI Gene:10013, OMIM:300272, RefSeq DNA:NG_012560, RefSeq DNA:NT_079573, RefSeq Protein:NP_006035, RefSeq RNA:NM_006044, UCSC Genome Browser:NM_006044, UniProtKB:Q9UBN7 No chrX 48660086 48683408 48801377 48824982 +PA162390579 51564 HGNC:14067 ENSG00000061273 histone deacetylase 7 HDAC7 DKFZP586J0917, HDAC7A Yes No Ensembl:ENSG00000061273, GeneCard:HDAC7, HGNC:HGNC:14067, HumanCyc Gene:HS12154, ModBase:Q9UFU7, NCBI Gene:51564, OMIM:606542, RefSeq DNA:NT_029419, RefSeq Protein:NP_001091886, RefSeq Protein:NP_056216, RefSeq RNA:NM_001098416, RefSeq RNA:NM_015401, UniProtKB:Q8WUI4 No chr12 48176505 48213763 47782710 47820612 +PA37766 55869 HGNC:13315 ENSG00000147099 histone deacetylase 8 HDAC8 HDACL1, KDAC8, MRXS6, RPD3, WTS Yes No Comparative Toxicogenomics Database:55869, Ensembl:ENSG00000147099, GenAtlas:HDAC8, GeneCard:HDAC8, HGNC:HGNC:13315, HumanCyc Gene:HS07390, ModBase:Q9BY41, NCBI Gene:55869, OMIM:300269, RefSeq DNA:NG_015851, RefSeq DNA:NT_011669, RefSeq Protein:NP_001159890, RefSeq Protein:NP_001159891, RefSeq Protein:NP_001159892, RefSeq Protein:NP_001159894, RefSeq Protein:NP_001159920, RefSeq Protein:NP_060956, RefSeq RNA:NM_001166418, RefSeq RNA:NM_001166419, RefSeq RNA:NM_001166420, RefSeq RNA:NM_001166422, RefSeq RNA:NM_001166448, RefSeq RNA:NM_018486, UCSC Genome Browser:NM_018486, UniProtKB:A6ND12, UniProtKB:A6ND61, UniProtKB:A6NJR3, UniProtKB:B4DKN0, UniProtKB:B4DV22, UniProtKB:Q9BY41 No chrX 71549366 71792953 72329516 72573103 +PA38377 9734 HGNC:14065 ENSG00000048052 histone deacetylase 9 HDAC9 HD7, HDAC, HDAC7B, KIAA0744, MITR Yes No Comparative Toxicogenomics Database:9734, Ensembl:ENSG00000048052, GenAtlas:HDAC9, GeneCard:HDAC9, HGNC:HGNC:14065, HumanCyc Gene:HS12110, ModBase:Q9UKV0, NCBI Gene:9734, OMIM:606543, RefSeq DNA:NG_023250, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001191073, RefSeq Protein:NP_001191074, RefSeq Protein:NP_001191075, RefSeq Protein:NP_001191076, RefSeq Protein:NP_001191077, RefSeq Protein:NP_055522, RefSeq Protein:NP_478056, RefSeq Protein:NP_478057, RefSeq Protein:NP_848510, RefSeq Protein:NP_848512, RefSeq RNA:NM_001204144, RefSeq RNA:NM_001204145, RefSeq RNA:NM_001204146, RefSeq RNA:NM_001204147, RefSeq RNA:NM_001204148, RefSeq RNA:NM_014707, RefSeq RNA:NM_058176, RefSeq RNA:NM_058177, RefSeq RNA:NM_178423, RefSeq RNA:NM_178425, UCSC Genome Browser:NM_014707, UniProtKB:Q9UKV0 No chr7 18126572 19039135 18086942 19003745 +PA29233 3067 HGNC:4855 ENSG00000140287 histidine decarboxylase HDC Yes Yes Comparative Toxicogenomics Database:3067, Ensembl:ENSG00000140287, GenAtlas:HDC, GeneCard:HDC, HGNC:HGNC:4855, HumanCyc Gene:HS06697, ModBase:P19113, NCBI Gene:3067, OMIM:142704, RefSeq DNA:NT_010194, RefSeq Protein:NP_002103, RefSeq RNA:NM_002112, UCSC Genome Browser:NM_002112, UniProtKB:P19113 No chr15 50534144 50558162 50241945 50266049 +PA134943525 51020 HGNC:21078 ENSG00000111906 HD domain containing 2 HDDC2 C6orf74, CGI-130, dJ167O5.2 Yes No Comparative Toxicogenomics Database:51020, Ensembl:ENSG00000111906, GeneCard:HDDC2, HGNC:HGNC:21078, HumanCyc Gene:HS12758, ModBase:Q7Z4H3, NCBI Gene:51020, RefSeq DNA:NT_025741, RefSeq Protein:NP_057147, RefSeq RNA:NM_016063, UniProtKB:Q7Z4H3 No chr6 125596496 125623287 125274934 125302141 +PA142671696 374659 HGNC:30522 ENSG00000184508 HD domain containing 3 HDDC3 myeloid leukemia noncoding regulatory locus on chromosome 15 MESH1, MGC45386, MYNRL15 Yes No Comparative Toxicogenomics Database:374659, Ensembl:ENSG00000184508, GeneCard:HDDC3, HGNC:HGNC:30522, NCBI Gene:374659, RefSeq DNA:NT_010274, RefSeq Protein:NP_940929, RefSeq RNA:NM_198527, UniProtKB:Q8N4P3 No chr15 91474148 91475792 90930918 90932569 +PA29234 3068 HGNC:4856 ENSG00000143321 heparin binding growth factor HDGF hepatoma-derived growth factor, high-mobility group protein 1-like HMG1L2 Yes No Comparative Toxicogenomics Database:3068, Ensembl:ENSG00000143321, GenAtlas:HDGF, GeneCard:HDGF, HGNC:HGNC:4856, HumanCyc Gene:HS07026, ModBase:P51858, NCBI Gene:3068, OMIM:600339, RefSeq DNA:NT_004487, RefSeq Protein:NP_001119522, RefSeq Protein:NP_001119523, RefSeq Protein:NP_004485, RefSeq RNA:NM_001126050, RefSeq RNA:NM_001126051, RefSeq RNA:NM_004494, UCSC Genome Browser:NM_004494, UniProtKB:P51858, UniProtKB:Q5SZ07, UniProtKB:Q5SZ08 No chr1 156711899 156722240 156742107 156752448 +PA134981303 154150 HGNC:21095 ENSG00000112273 HDGF like 1 HDGFL1 hepatoma derived growth factor-like 1 HRP-1, Hdgfrp1, PWWP1, dJ309H15.1 Yes No Ensembl:ENSG00000112273, GeneCard:HDGFL1, HGNC:HGNC:21095, HumanCyc Gene:HS12768, ModBase:Q5TGJ6, NCBI Gene:154150, RefSeq DNA:NT_007592, RefSeq Protein:NP_612641, RefSeq RNA:NM_138574, UniProtKB:Q5TGJ6 No chr6 22569678 22570750 22569449 22570521 +PA166181542 84717 HGNC:14680 ENSG00000167674 HDGF like 2 HDGFL2 hepatoma-derived growth factor related protein 2 HRP2, Hdgfrp2 Yes No Ensembl:ENSG00000167674, HGNC:HGNC:14680, NCBI Gene:84717 No 0 0 0 0 +PA166181543 50810 HGNC:24937 ENSG00000166503 HDGF like 3 HDGFL3 HRP-3, Hdgfrp3 Yes No Ensembl:ENSG00000166503, HGNC:HGNC:24937, NCBI Gene:50810 No 0 0 0 0 +PA134929105 474167 HGNC:31836 ENSG00000227183 hepatoma-derived growth factor pseudogene 1 HDGFP1 Yes No Comparative Toxicogenomics Database:474167, Ensembl:ENSG00000227183, HGNC:HGNC:31836, NCBI Gene:474167, RefSeq DNA:NG_004722, RefSeq DNA:NT_011786 No chrX 130780649 130782246 131646640 131648237 +PA134952019 84064 HGNC:25364 ENSG00000167220 haloacid dehalogenase like hydrolase domain containing 2 HDHD2 haloacid dehalogenase-like hydrolase domain containing 2 DKFZP564D1378 Yes No Comparative Toxicogenomics Database:84064, Ensembl:ENSG00000167220, GeneCard:HDHD2, HGNC:HGNC:25364, HumanCyc Gene:HS09528, ModBase:Q9H0R4, NCBI Gene:84064, RefSeq DNA:NT_010966, RefSeq Protein:NP_115500, RefSeq RNA:NM_032124, UniProtKB:Q9H0R4 No chr18 44633781 44676891 47107402 47150520 +PA134868152 81932 HGNC:28171 ENSG00000119431 haloacid dehalogenase like hydrolase domain containing 3 HDHD3 haloacid dehalogenase-like hydrolase domain containing 3 C9orf158, MGC12904 Yes No Comparative Toxicogenomics Database:81932, Ensembl:ENSG00000119431, GeneCard:HDHD3, HGNC:HGNC:28171, HumanCyc Gene:HS04298, ModBase:Q9BSH5, NCBI Gene:81932, RefSeq DNA:NT_008470, RefSeq Protein:NP_112496, RefSeq RNA:NM_031219, UniProtKB:Q9BSH5 No chr9 116135698 116139289 113373416 113377009 +PA26386 27440 HGNC:1843 ENSG00000069998 haloacid dehalogenase like hydrolase domain containing 5 HDHD5 cat eye syndrome chromosome region, candidate 5 CECR5 Yes No Ensembl:ENSG00000069998, GenAtlas:CECR5, GeneCard:CECR5, HGNC:HGNC:1843, HumanCyc Gene:HS12205, ModBase:Q9BXW7, NCBI Gene:27440, RefSeq DNA:NT_011519, RefSeq Protein:NP_060299, RefSeq Protein:NP_149061, RefSeq RNA:NM_017829, RefSeq RNA:NM_033070, UCSC Genome Browser:NM_017829, UniProtKB:Q9BXW7 No chr22 17618410 17646177 17137520 17165287 +PA29235 3069 HGNC:4857 ENSG00000115677 high density lipoprotein binding protein HDLBP HBP, VGL Yes No Ensembl:ENSG00000115677, GenAtlas:HDLBP, GeneCard:HDLBP, HGNC:HGNC:4857, HumanCyc Gene:HS03926, ModBase:Q00341, NCBI Gene:3069, OMIM:142695, RefSeq DNA:NT_005416, RefSeq Protein:NP_005327, RefSeq Protein:NP_976221, RefSeq RNA:NM_005336, RefSeq RNA:NM_203346, UCSC Genome Browser:NM_005336, UniProtKB:Q00341 No chr2 242166682 242255116 241227264 241315842 +PA162390630 139324 HGNC:26411 ENSG00000165259 highly divergent homeobox HDX CXorf43, FLJ30678 Yes No Ensembl:ENSG00000165259, GeneCard:HDX, HGNC:HGNC:26411, HumanCyc Gene:HS09207, ModBase:Q7Z353, NCBI Gene:139324, RefSeq DNA:NG_017158, RefSeq DNA:NT_011651, RefSeq Protein:NP_001170949, RefSeq Protein:NP_001170950, RefSeq Protein:NP_653258, RefSeq RNA:NM_001177478, RefSeq RNA:NM_001177479, RefSeq RNA:NM_144657, UniProtKB:Q7Z353 No chrX 83572882 83757487 84317874 84502578 +PA142671697 55127 HGNC:25517 ENSG00000119285 HEAT repeat containing 1 HEATR1 UTP10, small subunit (SSU) processome component, homolog (yeast) BAP28, FLJ10359, UTP10 Yes No Comparative Toxicogenomics Database:55127, Ensembl:ENSG00000119285, GeneCard:HEATR1, HGNC:HGNC:25517, HumanCyc Gene:HS12934, ModBase:Q9H583, NCBI Gene:55127, RefSeq DNA:NT_167186, RefSeq Protein:NP_060542, RefSeq RNA:NM_018072, UniProtKB:B3KWS1, UniProtKB:Q9H583 No chr1 236712305 236767841 236549005 236604541 +PA144596426 55027 HGNC:26087 ENSG00000155393 HEAT repeat containing 3 HEATR3 FLJ20718 Yes No Ensembl:ENSG00000155393, GeneCard:HEATR3, HGNC:HGNC:26087, HumanCyc Gene:HS14567, ModBase:Q7Z4Q2, NCBI Gene:55027, RefSeq DNA:NT_010498, RefSeq Protein:NP_891552, RefSeq RNA:NM_182922, UniProtKB:Q7Z4Q2 No chr16 50099881 50139392 50065970 50107268 +PA162390631 399671 HGNC:16761 ENSG00000187105 HEAT repeat containing 4 HEATR4 MGC48595 Yes Yes Ensembl:ENSG00000187105, GeneCard:HEATR4, HGNC:HGNC:16761, ModBase:Q86WZ0, NCBI Gene:399671, RefSeq DNA:NT_026437, RefSeq Protein:NP_001207413, RefSeq Protein:NP_976054, RefSeq RNA:NM_001220484, RefSeq RNA:NM_203309, UniProtKB:Q86WZ0 No chr14 73945189 74025651 73478484 73634418 +PA162390632 25938 HGNC:20276 ENSG00000129493 HEAT repeat containing 5A HEATR5A C14orf125, DKFZP434I1735, p200b Yes No Ensembl:ENSG00000129493, GeneCard:HEATR5A, HGNC:HGNC:20276, NCBI Gene:25938, RefSeq DNA:NT_026437, RefSeq Protein:NP_056288, RefSeq RNA:NM_015473, UniProtKB:Q86XA9 No chr14 31760994 31889788 31291788 31420582 +PA162390697 54497 HGNC:29273 ENSG00000008869 HEAT repeat containing 5B HEATR5B DKFZp686P15184, KIAA1414, p200, p200a Yes No Ensembl:ENSG00000008869, GeneCard:HEATR5B, HGNC:HGNC:29273, ModBase:Q9P2D3, NCBI Gene:54497, RefSeq DNA:NT_022184, RefSeq Protein:NP_061897, RefSeq RNA:NM_019024, UniProtKB:Q9P2D3 No chr2 37208153 37311485 36980999 37084384 +PA162390774 63897 HGNC:24076 ENSG00000068097 HEAT repeat containing 6 HEATR6 amplified in breast cancer 1 ABC1, FLJ22087 Yes No Ensembl:ENSG00000068097, GeneCard:HEATR6, HGNC:HGNC:24076, HumanCyc Gene:HS12190, ModBase:Q6AI08, NCBI Gene:63897, RefSeq DNA:NT_010783, RefSeq Protein:NP_071353, RefSeq RNA:NM_022070, UniProtKB:Q6AI08 No chr17 58118790 58156292 60041363 60078931 +PA142672249 256957 HGNC:26548 ENSG00000270379 HEAT repeat containing 9 HEATR9 chromosome 17 open reading frame 66 C17orf66, FLJ32830 Yes No Ensembl:ENSG00000270379, GeneCard:C17orf66, HGNC:HGNC:26548, HumanCyc Gene:HS16111, ModBase:A2RTY3, NCBI Gene:256957, RefSeq DNA:NT_010799, RefSeq Protein:NP_689994, RefSeq RNA:NM_152781, UniProtKB:A2RTY3 No chr17 34181898 34195895 35854946 35868891 +PA29236 50865 HGNC:17176 ENSG00000013583 heme binding protein 1 HEBP1 HBP, HEBP Yes No Comparative Toxicogenomics Database:50865, Ensembl:ENSG00000013583, GenAtlas:HEBP1, GeneCard:HEBP1, HGNC:HGNC:17176, HumanCyc Gene:HS00352, ModBase:Q9NRV9, NCBI Gene:50865, OMIM:605826, RefSeq DNA:NT_009714, RefSeq Protein:NP_057071, RefSeq RNA:NM_015987, UCSC Genome Browser:NM_015987, UniProtKB:Q9NRV9 No chr12 13127798 13153243 12974864 13000309 +PA25935 23593 HGNC:15716 ENSG00000051620 heme binding protein 2 HEBP2 C6orf34, SOUL Yes No Comparative Toxicogenomics Database:23593, Ensembl:ENSG00000051620, GeneCard:HEBP2, HGNC:HGNC:15716, HumanCyc Gene:HS12126, ModBase:Q9Y5Z4, NCBI Gene:23593, OMIM:605825, RefSeq DNA:NT_025741, RefSeq Protein:NP_055135, RefSeq RNA:NM_014320, UCSC Genome Browser:NM_014320, UniProtKB:Q9Y5Z4 No chr6 138725336 138734582 138404199 138415593 +PA134977625 51696 HGNC:21041 ENSG00000112406 hdc homolog, cell cycle regulator HECA headcase homolog (Drosophila) HDC, HDCL, dJ225E12.1, hHDC Yes No Ensembl:ENSG00000112406, GeneCard:HECA, HGNC:HGNC:21041, HumanCyc Gene:HS03567, ModBase:Q9UBI9, NCBI Gene:51696, OMIM:607977, RefSeq DNA:NT_025741, RefSeq Protein:NP_057301, RefSeq RNA:NM_016217, UniProtKB:Q9UBI9 No chr6 139456249 139501946 139135112 139180809 +PA134989284 25831 HGNC:20157 ENSG00000092148 HECT domain E3 ubiquitin protein ligase 1 HECTD1 HECT domain containing E3 ubiquitin protein ligase 1 KIAA1131 Yes No Ensembl:ENSG00000092148, GeneCard:HECTD1, HGNC:HGNC:20157, HumanCyc Gene:HS01761, ModBase:Q9ULT8, NCBI Gene:25831, RefSeq DNA:NT_026437, RefSeq Protein:NP_056197, RefSeq RNA:NM_015382, UniProtKB:Q9ULT8 No chr14 31569323 31677266 31100115 31208060 +PA134933711 143279 HGNC:26736 ENSG00000165338 HECT domain E3 ubiquitin protein ligase 2 HECTD2 HECT domain containing E3 ubiquitin protein ligase 2 FLJ37306 Yes No Comparative Toxicogenomics Database:143279, Ensembl:ENSG00000165338, GeneCard:HECTD2, HGNC:HGNC:26736, HumanCyc Gene:HS15312, ModBase:Q5U5R9, NCBI Gene:143279, RefSeq DNA:NT_030059, RefSeq Protein:NP_775768, RefSeq Protein:NP_877497, RefSeq RNA:NM_173497, RefSeq RNA:NM_182765, UniProtKB:B3KV18, UniProtKB:Q5U5R9, UniProtKB:Q5VZ98, UniProtKB:Q8N1X7 No chr10 93169037 93274586 91409280 91514829 +PA142671698 79654 HGNC:26117 ENSG00000126107 HECT domain E3 ubiquitin protein ligase 3 HECTD3 HECT domain containing E3 ubiquitin protein ligase 3 FLJ21156 Yes No Ensembl:ENSG00000126107, GeneCard:HECTD3, HGNC:HGNC:26117, HumanCyc Gene:HS04995, ModBase:Q5T447, NCBI Gene:79654, RefSeq DNA:NT_032977, RefSeq Protein:NP_078878, RefSeq RNA:NM_024602, UniProtKB:A1A4G1, UniProtKB:B3KU34, UniProtKB:Q5T447 No chr1 45468220 45477027 45002548 45011355 +PA143485380 283450 HGNC:26611 ENSG00000173064 HECT domain E3 ubiquitin protein ligase 4 HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 C12orf51, FLJ34154, KIAA0614 Yes No Ensembl:ENSG00000173064, GeneCard:C12orf51, HGNC:HGNC:26611, HumanCyc Gene:HS16165, NCBI Gene:283450, RefSeq DNA:NT_009775, RefSeq Protein:NP_001103132, RefSeq Protein:XP_002343255, RefSeq RNA:NM_001109662, RefSeq RNA:XM_002343214 No chr12 112597992 112820113 112160188 112382092 +PA134964191 23072 HGNC:22195 ENSG00000002746 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 HECW1 KIAA0322, NEDL1 Yes No Ensembl:ENSG00000002746, GeneCard:HECW1, HGNC:HGNC:22195, HumanCyc Gene:HS00085, ModBase:Q76N89, NCBI Gene:23072, OMIM:610384, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_055867, RefSeq RNA:NM_015052, UniProtKB:Q76N89 No chr7 43152198 43603213 43112580 43566001 +PA134925001 57520 HGNC:29853 ENSG00000138411 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 HECW2 KIAA1301, NEDL2 Yes No Comparative Toxicogenomics Database:57520, Ensembl:ENSG00000138411, GeneCard:HECW2, HGNC:HGNC:29853, ModBase:Q9P2P5, NCBI Gene:57520, RefSeq DNA:NT_005403, RefSeq Protein:NP_065811, RefSeq RNA:NM_020760, UniProtKB:Q9P2P5 No chr2 197063971 197458416 196194382 196593692 +PA142671699 57493 HGNC:29227 ENSG00000173706 heart development protein with EGF like domains 1 HEG1 heart development protein with EGF-like domains 1, heart of glass HEG, KIAA1237 Yes No Comparative Toxicogenomics Database:57493, Ensembl:ENSG00000173706, GeneCard:HEG1, HGNC:HGNC:29227, ModBase:Q9ULI3, NCBI Gene:57493, RefSeq DNA:NT_005612, RefSeq Protein:NP_065784, RefSeq RNA:NM_020733, UniProtKB:Q9ULI3 No chr3 124684554 124774802 124965710 125055958 +PA134987279 92797 HGNC:17196 ENSG00000127311 DNA helicase B HELB helicase (DNA) B Yes Yes Comparative Toxicogenomics Database:92797, Ensembl:ENSG00000127311, GeneCard:HELB, HGNC:HGNC:17196, HumanCyc Gene:HS13233, ModBase:Q8NG08, NCBI Gene:92797, RefSeq DNA:NT_029419, RefSeq Protein:NP_387467, RefSeq RNA:NM_033647, UniProtKB:Q8NG08 No chr12 66696335 66737423 66302545 66343643 +PA35054 3070 HGNC:4861 ENSG00000119969 helicase, lymphoid specific HELLS """SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""Senescence Associated Long Non-coding RNA"", ""helicase, lymphoid-specific"", ""proliferation-associated SNF2-like protein""" LSH, Nbla10143, PASG, SALNR, SMARCA6 Yes No Comparative Toxicogenomics Database:3070, Ensembl:ENSG00000119969, GenAtlas:HELLS, GeneCard:HELLS, HGNC:HGNC:4861, HumanCyc Gene:HS04357, ModBase:Q76H81, NCBI Gene:3070, OMIM:603946, RefSeq DNA:NT_030059, RefSeq Protein:NP_060533, RefSeq RNA:NM_018063, UCSC Genome Browser:NM_018063, UniProtKB:Q9NRZ9 No chr10 96305535 96362628 94545767 94613905 +PA164720529 113510 HGNC:18536 ENSG00000163312 helicase, POLQ like HELQ helicase, POLQ-like Hel308 Yes No Ensembl:ENSG00000163312, GeneCard:HELQ, HGNC:HGNC:18536, HumanCyc Gene:HS08825, NCBI Gene:113510, OMIM:606769, RefSeq DNA:NT_016354, RefSeq Protein:NP_598375, RefSeq RNA:NM_133636, UniProtKB:Q8TDG4 No chr4 84328496 84377162 83407343 83455883 +PA162390819 391723 HGNC:33783 ENSG00000187821 helt bHLH transcription factor HELT HES-like, megane bHLH factor HCM1228, HESL, MEGANE, Mgn, bHLHb44 Yes No Ensembl:ENSG00000187821, GeneCard:HELT, HGNC:HGNC:33783, ModBase:A6NFD8, NCBI Gene:391723, RefSeq DNA:NT_016354, RefSeq Protein:NP_001025058, RefSeq RNA:NM_001029887, UniProtKB:A6NFD8 No chr4 185940001 185941958 185018841 185021265 +PA29238 9931 HGNC:16878 ENSG00000198265 helicase with zinc finger HELZ down-regulated in human cancers DHRC, HUMORF5, KIAA0054 Yes No Comparative Toxicogenomics Database:9931, Ensembl:ENSG00000198265, GenAtlas:HELZ, GeneCard:HELZ, HGNC:HGNC:16878, NCBI Gene:9931, OMIM:606699, RefSeq DNA:NT_010783, RefSeq Protein:NP_055692, RefSeq RNA:NM_014877, UCSC Genome Browser:NM_014877 No chr17 65066554 65241349 67070438 67245989 +PA166048993 85441 HGNC:30021 ENSG00000130589 helicase with zinc finger 2 HELZ2 """PPARG-DBD-interacting protein 1"", ""helicase with zinc finger 2, transcriptional coactivator"", ""peroxisomal proliferator activated receptor A interacting complex 285""" KIAA1769, PDIP1, PRIC285 Yes No Ensembl:ENSG00000130589, HGNC:HGNC:30021, NCBI Gene:85441 No chr20 62189439 62205592 63558086 63574239 +PA38458 55363 HGNC:17509 ENSG00000136929 hemogen HEMGN CT155, EDAG, NDR Yes No Ensembl:ENSG00000136929, GenAtlas:HEMGN, GeneCard:HEMGN, HGNC:HGNC:17509, HumanCyc Gene:HS13649, NCBI Gene:55363, OMIM:610715, RefSeq DNA:NT_008470, RefSeq Protein:NP_060907, RefSeq Protein:NP_932095, RefSeq RNA:NM_018437, RefSeq RNA:NM_197978, UCSC Genome Browser:NM_018437, UniProtKB:Q9BXL5 No chr9 100689073 100707197 97926791 97944915 +PA134884011 51409 HGNC:24923 ENSG00000114735 HemK methyltransferase family member 1 HEMK1 MTRF1L release factor glutamine methyltransferase MTQ1 Yes No Comparative Toxicogenomics Database:51409, Ensembl:ENSG00000114735, GeneCard:HEMK1, HGNC:HGNC:24923, HumanCyc Gene:HS03791, ModBase:Q9Y5R4, NCBI Gene:51409, RefSeq DNA:NT_022517, RefSeq Protein:NP_057257, RefSeq RNA:NM_016173, UniProtKB:Q9Y5R4 No chr3 50606583 50622422 50569152 50589050 +PA128394748 113802 HGNC:26400 ENSG00000162639 HEN methyltransferase 1 HENMT1 HEN1 methyltransferase homolog (Arabidopsis), HEN1 methyltransferase homolog 1 (Arabidopsis), hua enhancer 1 homolog 1 (Arabidopsis) C1orf59, FLJ30525, HEN1 Yes No Ensembl:ENSG00000162639, GeneCard:C1orf59, HGNC:HGNC:26400, HumanCyc Gene:HS14946, ModBase:Q5T8I9, NCBI Gene:113802, OMIM:612178, RefSeq DNA:NT_032977, RefSeq Protein:NP_001096062, RefSeq Protein:NP_653185, RefSeq RNA:NM_001102592, RefSeq RNA:NM_144584, UCSC Genome Browser:NM_144584, UniProtKB:Q5T8I9 No chr1 109190910 109204148 108648288 108661526 +PA162390830 220296 HGNC:26361 ENSG00000165478 hepatic and glial cell adhesion molecule HEPACAM glial cell adhesion molecule FLJ25530, GLIALCAM, hepaCAM Yes No Ensembl:ENSG00000165478, GeneCard:HEPACAM, HGNC:HGNC:26361, HumanCyc Gene:HS15328, ModBase:Q14CZ8, NCBI Gene:220296, OMIM:611642, RefSeq DNA:NT_033899, RefSeq Protein:NP_689935, RefSeq RNA:NM_152722, UniProtKB:Q14CZ8 No chr11 124789089 124806308 124919244 124936412 +PA162390849 253012 HGNC:27364 ENSG00000188175 HEPACAM family member 2 HEPACAM2 FLJ38683 Yes No Ensembl:ENSG00000188175, GeneCard:HEPACAM2, HGNC:HGNC:27364, ModBase:A8MVW5, NCBI Gene:253012, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001034461, RefSeq Protein:NP_937794, RefSeq RNA:NM_001039372, RefSeq RNA:NM_198151, UniProtKB:A8MVW5 No chr7 92817899 92855783 93188586 93232297 +PA29241 9843 HGNC:4866 ENSG00000089472 hephaestin HEPH CPL, KIAA0698 Yes No Comparative Toxicogenomics Database:9843, Ensembl:ENSG00000089472, GenAtlas:HEPH, GeneCard:HEPH, HGNC:HGNC:4866, HumanCyc Gene:HS01654, ModBase:Q9BQS7, NCBI Gene:9843, OMIM:300167, RefSeq DNA:NG_016265, RefSeq DNA:NT_011669, RefSeq Protein:NP_001124332, RefSeq Protein:NP_055614, RefSeq Protein:NP_620074, RefSeq RNA:NM_001130860, RefSeq RNA:NM_014799, RefSeq RNA:NM_138737, UCSC Genome Browser:NM_014799, UniProtKB:Q9BQS7 No chrX 65382433 65487231 66162526 66267389 +PA134873144 341208 HGNC:30477 ENSG00000181333 hephaestin like 1 HEPHL1 hephaestin-like 1, zyklopen DKFZp686F22190, Zp Yes No Ensembl:ENSG00000181333, GeneCard:HEPHL1, HGNC:HGNC:30477, ModBase:Q6MZM0, NCBI Gene:341208, RefSeq DNA:NT_167190, RefSeq Protein:NP_001092142, RefSeq RNA:NM_001098672, UniProtKB:Q6MZM0 No chr11 93754378 93847374 94021212 94114208 +PA162390850 641654 HGNC:34400 ENSG00000221932 hepatocellular carcinoma, down-regulated 1 HEPN1 cancer susceptibility gene HEPN1 Yes No Ensembl:ENSG00000221932, GeneCard:HEPN1, HGNC:HGNC:34400, NCBI Gene:641654, OMIM:611641, RefSeq DNA:NT_033899, RefSeq Protein:NP_001032647, RefSeq RNA:NM_001037558, UniProtKB:Q6WQI6 No chr11 124789146 124790573 124919250 124920677 +PA29242 8925 HGNC:4867 ENSG00000103657 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 HERC1 p532, p619 Yes No Ensembl:ENSG00000103657, GenAtlas:HERC1, GeneCard:HERC1, HGNC:HGNC:4867, HumanCyc Gene:HS02527, ModBase:Q15751, NCBI Gene:8925, OMIM:605109, RefSeq DNA:NT_010194, RefSeq Protein:NP_003913, RefSeq RNA:NM_003922, UCSC Genome Browser:NM_003922, UniProtKB:Q15751 No chr15 63900817 64126148 63608618 63833964 +PA29243 8924 HGNC:4868 ENSG00000128731 HECT and RLD domain containing E3 ubiquitin protein ligase 2 HERC2 D15F37S1, jdf2, p528 Yes No Comparative Toxicogenomics Database:8924, Ensembl:ENSG00000128731, GenAtlas:HERC2, GeneCard:HERC2, HGNC:HGNC:4868, HumanCyc Gene:HS05221, ModBase:Q86YY7, NCBI Gene:8924, OMIM:227220, OMIM:605837, RefSeq DNA:NG_016355, RefSeq DNA:NT_026446, RefSeq Protein:NP_004658, RefSeq RNA:NM_004667, UCSC Genome Browser:NM_004667, UniProtKB:O95714 No chr15 28356183 28567313 28111037 28322173 +PA29244 8917 HGNC:4869 ENSG00000261401 hect domain and RLD 2 pseudogene 1 HERC2P1 D15F37S2 Yes No Ensembl:ENSG00000261401, GenAtlas:HERC2P1, GeneCard:HERC2P1, HGNC:HGNC:4869, NCBI Gene:8917, RefSeq DNA:NG_005644, RefSeq DNA:NT_026446 No chr15 28573631 28580323 28328485 28335177 +PA29245 400322 HGNC:4870 ENSG00000276550 hect domain and RLD 2 pseudogene 2 HERC2P2 D15F37S3 Yes No Ensembl:ENSG00000276550, GenAtlas:HERC2P2, GeneCard:HERC2P2, HGNC:HGNC:4870, NCBI Gene:400322, RefSeq DNA:NT_078094, RefSeq RNA:NR_002824 No chr15 23282265 23378259 22494837 22590831 +PA29246 283755 HGNC:4871 ENSG00000180229 hect domain and RLD 2 pseudogene 3 HERC2P3 D15F37S4, LOC283755 Yes No Ensembl:ENSG00000180229, GenAtlas:HERC2P3, GeneCard:HERC2P3, HGNC:HGNC:4871, ModBase:Q9BVR0, NCBI Gene:283755, RefSeq DNA:NG_008269, RefSeq DNA:NT_037852, RefSeq RNA:NR_036432 No chr15 20613649 20711433 20408396 20506180 +PA29247 100289574 HGNC:4872 ENSG00000230267 hect domain and RLD 2 pseudogene 4 HERC2P4 D16F37S5 Yes No Ensembl:ENSG00000230267, GenAtlas:HERC2P4, GeneCard:HERC2P4, HGNC:HGNC:4872, NCBI Gene:100289574, RefSeq DNA:NT_010393, RefSeq RNA:NR_002827 No chr16 32187411 32199434 32170043 32188113 +PA29248 388254 HGNC:4873 ENSG00000260644 hect domain and RLD 2 pseudogene 5 HERC2P5 D16F37S6 Yes No Ensembl:ENSG00000260644, GenAtlas:HERC2P5, GeneCard:HERC2P5, HGNC:HGNC:4873, NCBI Gene:388254, RefSeq DNA:NG_005349, RefSeq DNA:NT_010393 No chr16 32752565 32786789 32741244 32775468 +PA29249 8918 HGNC:4874 ENSG00000261418 hect domain and RLD 2 pseudogene 6 HERC2P6 Yes No Ensembl:ENSG00000261418, GenAtlas:HERC2P6, GeneCard:HERC2P6, HGNC:HGNC:4874, NCBI Gene:8918, RefSeq DNA:NG_005348, RefSeq DNA:NT_026446 No chr15 23675986 23680357 23430839 23435219 +PA29250 100132101 HGNC:4875 ENSG00000281909 hect domain and RLD 2 pseudogene 7 HERC2P7 Yes No Ensembl:ENSG00000281909, GenAtlas:HERC2P7, GeneCard:HERC2P7, HGNC:HGNC:4875, NCBI Gene:100132101, RefSeq DNA:NT_078094, RefSeq RNA:NR_036470, RefSeq RNA:XR_037633, RefSeq RNA:XR_079351 No chr15 23390722 23393943 22479153 22482374 +PA29251 8916 HGNC:4876 ENSG00000138641 HECT and RLD domain containing E3 ubiquitin protein ligase 3 HERC3 KIAA0032 Yes No Ensembl:ENSG00000138641, GenAtlas:HERC3, GeneCard:HERC3, HGNC:HGNC:4876, HumanCyc Gene:HS06523, ModBase:Q15034, NCBI Gene:8916, OMIM:605200, RefSeq DNA:NT_016354, RefSeq Protein:NP_055421, RefSeq RNA:NM_014606, UCSC Genome Browser:NM_014606, UniProtKB:Q15034 No chr4 89513574 89629693 88592423 88709303 +PA134949021 26091 HGNC:24521 ENSG00000148634 HECT and RLD domain containing E3 ubiquitin protein ligase 4 HERC4 DKFZP564G092, KIAA1593 Yes No Comparative Toxicogenomics Database:26091, Ensembl:ENSG00000148634, GeneCard:HERC4, HGNC:HGNC:24521, ModBase:Q5GLZ8, NCBI Gene:26091, OMIM:609248, RefSeq DNA:NT_030059, RefSeq Protein:NP_056416, RefSeq Protein:NP_071362, RefSeq RNA:NM_015601, RefSeq RNA:NM_022079, UniProtKB:Q5GLZ8 No chr10 69681656 69835103 67921899 68075348 +PA134973940 51191 HGNC:24368 ENSG00000138646 HECT and RLD domain containing E3 ubiquitin protein ligase 5 HERC5 CEB1 Yes No Ensembl:ENSG00000138646, GeneCard:HERC5, HGNC:HGNC:24368, HumanCyc Gene:HS06525, ModBase:Q9UII4, NCBI Gene:51191, OMIM:608242, RefSeq DNA:NT_016354, RefSeq Protein:NP_057407, RefSeq RNA:NM_016323, UniProtKB:B3KSA4, UniProtKB:Q9UII4 No chr4 89378181 89427334 88456604 88506170 +PA134894313 55008 HGNC:26072 ENSG00000138642 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 HERC6 FLJ20637 Yes No Ensembl:ENSG00000138642, GeneCard:HERC6, HGNC:HGNC:26072, HumanCyc Gene:HS06524, ModBase:Q9NWS4, NCBI Gene:55008, OMIM:609249, RefSeq DNA:NT_016354, RefSeq Protein:NP_001158608, RefSeq Protein:NP_060382, RefSeq RNA:NM_001165136, RefSeq RNA:NM_017912, UniProtKB:Q8IVU3 No chr4 89299838 89364249 88378565 88443097 +PA29252 9709 HGNC:13744 ENSG00000051108 homocysteine inducible ER protein with ubiquitin like domain 1 HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 HERP, KIAA0025, Mif1, SUP Yes No Comparative Toxicogenomics Database:9709, Ensembl:ENSG00000051108, GenAtlas:HERPUD1, GeneCard:HERPUD1, HGNC:HGNC:13744, HumanCyc Gene:HS00640, ModBase:Q15011, NCBI Gene:9709, OMIM:608070, RefSeq DNA:NT_010498, RefSeq Protein:NP_001010989, RefSeq Protein:NP_001010990, RefSeq Protein:NP_055500, RefSeq RNA:NM_001010989, RefSeq RNA:NM_001010990, RefSeq RNA:NM_014685, UCSC Genome Browser:NM_014685, UniProtKB:Q15011 No chr16 56965974 56977793 56932090 56943881 +PA144596425 64224 HGNC:21915 ENSG00000122557 HERPUD family member 2 HERPUD2 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2 FLJ22313 Yes No Ensembl:ENSG00000122557, GeneCard:HERPUD2, HGNC:HGNC:21915, HumanCyc Gene:HS13060, ModBase:Q9BSE4, NCBI Gene:64224, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_071768, RefSeq RNA:NM_022373, UniProtKB:Q9BSE4 No chr7 35672269 35734772 35632659 35695187 +PA29465 3280 HGNC:5192 ENSG00000114315 hes family bHLH transcription factor 1 HES1 hairy and enhancer of split 1, (Drosophila) FLJ20408, HES-1, HRY, Hes1, bHLHb39 Yes No Comparative Toxicogenomics Database:3280, Ensembl:ENSG00000114315, GeneCard:HES1, HGNC:HGNC:5192, HumanCyc Gene:HS03754, ModBase:Q14469, NCBI Gene:3280, OMIM:139605, RefSeq DNA:NT_005612, RefSeq Protein:NP_005515, RefSeq RNA:NM_005524, UCSC Genome Browser:NM_005524, UniProtKB:Q14469 No chr3 193853931 193856401 194136142 194138612 +PA134958805 54626 HGNC:16005 ENSG00000069812 hes family bHLH transcription factor 2 HES2 hairy and enhancer of split 2 (Drosophila) bHLHb40 Yes No Comparative Toxicogenomics Database:54626, Ensembl:ENSG00000069812, GeneCard:HES2, HGNC:HGNC:16005, HumanCyc Gene:HS00971, ModBase:Q9Y543, NCBI Gene:54626, OMIM:609970, RefSeq DNA:NT_021937, RefSeq Protein:NP_061962, RefSeq RNA:NM_019089, UniProtKB:A2RTZ9, UniProtKB:Q9Y543 No chr1 6475292 6484724 6415232 6419919 +PA142671692 390992 HGNC:26226 ENSG00000173673 hes family bHLH transcription factor 3 HES3 hairy and enhancer of split 3 (Drosophila) bHLHb43 Yes No Ensembl:ENSG00000173673, GeneCard:HES3, HGNC:HGNC:26226, ModBase:Q5TGS1, NCBI Gene:390992, OMIM:609971, RefSeq DNA:NT_021937, RefSeq Protein:NP_001019769, RefSeq RNA:NM_001024598, UniProtKB:Q5TGS1 No chr1 6304252 6305638 6244192 6245578 +PA134975318 57801 HGNC:24149 ENSG00000188290 hes family bHLH transcription factor 4 HES4 hairy and enhancer of split 4 (Drosophila) bHLHb42 Yes No Ensembl:ENSG00000188290, GeneCard:HES4, HGNC:HGNC:24149, ModBase:Q9HCC6, NCBI Gene:57801, OMIM:608060, RefSeq DNA:NT_004350, RefSeq Protein:NP_001135939, RefSeq Protein:NP_066993, RefSeq RNA:NM_001142467, RefSeq RNA:NM_021170, UniProtKB:Q9HCC6 No chr1 934342 936608 998962 1001052 +PA134967985 388585 HGNC:19764 ENSG00000197921 hes family bHLH transcription factor 5 HES5 hairy and enhancer of split 5 (Drosophila) bHLHb38 Yes No Ensembl:ENSG00000197921, GeneCard:HES5, HGNC:HGNC:19764, ModBase:Q5TA89, NCBI Gene:388585, OMIM:607348, RefSeq DNA:NT_004350, RefSeq Protein:NP_001010926, RefSeq RNA:NM_001010926, UniProtKB:Q5TA89 No chr1 2460184 2461684 2528745 2530554 +PA29253 55502 HGNC:18254 ENSG00000144485 hes family bHLH transcription factor 6 HES6 hairy and enhancer of split 6 (Drosophila) bHLHb41 Yes Yes Comparative Toxicogenomics Database:55502, Ensembl:ENSG00000144485, GenAtlas:HES6, GeneCard:HES6, HGNC:HGNC:18254, HumanCyc Gene:HS07177, ModBase:Q96HZ4, NCBI Gene:55502, OMIM:610331, RefSeq DNA:NT_005120, RefSeq Protein:NP_001136325, RefSeq Protein:NP_061115, RefSeq RNA:NM_001142853, RefSeq RNA:NM_018645, UCSC Genome Browser:NM_018645, UniProtKB:Q96HZ4 No chr2 239146908 239148681 238238267 238240124 +PA29254 84667 HGNC:15977 ENSG00000179111 hes family bHLH transcription factor 7 HES7 bHLH factor Hes7, hairy and enhancer of split 7 (Drosophila) bHLHb37 Yes No Ensembl:ENSG00000179111, GenAtlas:HES7, GeneCard:HES7, HGNC:HGNC:15977, HumanCyc Gene:HS11353, ModBase:Q9BYE0, NCBI Gene:84667, OMIM:608059, RefSeq DNA:NG_015816, RefSeq DNA:NT_010718, RefSeq Protein:NP_001159439, RefSeq Protein:NP_115969, RefSeq RNA:NM_001165967, RefSeq RNA:NM_032580, UCSC Genome Browser:NM_032580, UniProtKB:Q9BYE0 No chr17 8023908 8027410 8120590 8126032 +PA29255 8820 HGNC:4877 ENSG00000163666 HESX homeobox 1 HESX1 Rathke's pouch homeobox ANF, RPX Yes No Comparative Toxicogenomics Database:8820, Ensembl:ENSG00000163666, GenAtlas:HESX1, GeneCard:HESX1, HGNC:HGNC:4877, HumanCyc Gene:HS08909, ModBase:Q9UBX0, NCBI Gene:8820, OMIM:182230, OMIM:601802, RefSeq DNA:NG_008242, RefSeq DNA:NT_022517, RefSeq Protein:NP_003856, RefSeq RNA:NM_003865, UCSC Genome Browser:NM_003865, UniProtKB:Q9UBX0 No chr3 57231866 57261656 57197838 57227643 +PA29256 3073 HGNC:4878 ENSG00000213614 hexosaminidase subunit alpha HEXA GM2 gangliosidosis, Tay Sachs disease, beta-hexosaminidase subunit alpha, hexosaminidase A (alpha polypeptide) Yes No Comparative Toxicogenomics Database:3073, Ensembl:ENSG00000213614, GenAtlas:HEXA, GeneCard:HEXA, HGNC:HGNC:4878, HumanCyc Gene:HS06726, ModBase:P06865, NCBI Gene:3073, OMIM:272800, OMIM:606869, RefSeq DNA:NG_009017, RefSeq DNA:NT_010194, RefSeq Protein:NP_000511, RefSeq RNA:NM_000520, UCSC Genome Browser:NM_000520, UniProtKB:P06865 No chr15 72635778 72669474 72343435 72376473 +PA142672270 80072 HGNC:25810 ENSG00000260339 HEXA antisense RNA 1 HEXA-AS1 FLJ13315 Yes No Ensembl:ENSG00000260339, GeneCard:C15orf34, HGNC:HGNC:25810, NCBI Gene:80072, RefSeq DNA:NT_010194, RefSeq RNA:NR_027262 No chr15 72668454 72671129 72376113 72378788 +PA29257 3074 HGNC:4879 ENSG00000049860 hexosaminidase subunit beta HEXB beta-hexosaminidase subunit beta, hexosaminidase B (beta polypeptide) Yes No Comparative Toxicogenomics Database:3074, Ensembl:ENSG00000049860, GenAtlas:HEXB, GeneCard:HEXB, HGNC:HGNC:4879, HumanCyc Gene:HS00629, ModBase:P07686, NCBI Gene:3074, OMIM:268800, OMIM:606873, RefSeq DNA:NG_009770, RefSeq DNA:NT_006713, RefSeq Protein:NP_000512, RefSeq RNA:NM_000521, UCSC Genome Browser:NM_000521, UniProtKB:P07686 No chr5 73935547 74017113 74640023 74721288 +PA142671693 284004 HGNC:26307 ENSG00000169660 hexosaminidase D HEXD """hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing"", ""hexosaminidase D, cytosolic""" FLJ23825, HEXDC Yes No Ensembl:ENSG00000169660, GeneCard:HEXDC, HGNC:HGNC:26307, HumanCyc Gene:HS15800, NCBI Gene:284004, RefSeq DNA:NT_010663, RefSeq Protein:NP_775891, RefSeq RNA:NM_173620, UniProtKB:Q8WVB3 No chr17 80376240 80400516 82418376 82442645 +PA142671694 10614 HGNC:24953 ENSG00000186834 HEXIM P-TEFb complex subunit 1 HEXIM1 hexamethylene bis-acetamide inducible 1 CLP-1, EDG1, HIS1, MAQ1 Yes No Comparative Toxicogenomics Database:10614, Ensembl:ENSG00000186834, GeneCard:HEXIM1, HGNC:HGNC:24953, ModBase:O94992, NCBI Gene:10614, OMIM:607328, RefSeq DNA:NT_010783, RefSeq Protein:NP_006451, RefSeq RNA:NM_006460, UniProtKB:O94992 No chr17 43224684 43229468 45147317 45152101 +PA142671695 124790 HGNC:28591 ENSG00000168517 HEXIM P-TEFb complex subunit 2 HEXIM2 hexamethylene bis-acetamide inducible 2 FLJ32384 Yes No Ensembl:ENSG00000168517, GeneCard:HEXIM2, HGNC:HGNC:28591, HumanCyc Gene:HS15681, ModBase:Q96MH2, NCBI Gene:124790, RefSeq DNA:NT_010783, RefSeq Protein:NP_653209, RefSeq RNA:NM_144608, UniProtKB:Q96MH2 No chr17 43237502 43247406 45160174 45170040 +PA29258 23462 HGNC:4880 ENSG00000164683 hes related family bHLH transcription factor with YRPW motif 1 HEY1 hairy/enhancer-of-split related with YRPW motif 1, hes-related family bHLH transcription factor with YRPW motif 1 BHLHb31, CHF-2, CHF2, HERP2, HESR-1, HESR1, HRT-1 Yes No Comparative Toxicogenomics Database:23462, Ensembl:ENSG00000164683, GenAtlas:HEY1, GeneCard:HEY1, HGNC:HGNC:4880, HumanCyc Gene:HS09115, ModBase:Q9Y5J3, NCBI Gene:23462, OMIM:602953, RefSeq DNA:NT_008183, RefSeq Protein:NP_001035798, RefSeq Protein:NP_036390, RefSeq RNA:NM_001040708, RefSeq RNA:NM_012258, UCSC Genome Browser:NM_012258, UniProtKB:Q9Y5J3 No chr8 80676245 80680098 79764010 79767863 +PA29259 23493 HGNC:4881 ENSG00000135547 hes related family bHLH transcription factor with YRPW motif 2 HEY2 hairy/enhancer-of-split related with YRPW motif 2, hes-related family bHLH transcription factor with YRPW motif 2 HERP1, HESR2, bHLHb32 Yes No Ensembl:ENSG00000135547, GenAtlas:HEY2, GeneCard:HEY2, HGNC:HGNC:4881, HumanCyc Gene:HS06027, ModBase:Q9UBP5, NCBI Gene:23493, OMIM:604674, RefSeq DNA:NT_025741, RefSeq Protein:NP_036391, RefSeq RNA:NM_012259, UCSC Genome Browser:NM_012259, UniProtKB:Q9UBP5 No chr6 126066211 126082415 125747592 125762243 +PA29260 26508 HGNC:4882 ENSG00000163909 hes related family bHLH transcription factor with YRPW motif like HEYL hairy/enhancer-of-split related with YRPW motif 3, hairy/enhancer-of-split related with YRPW motif-like, hes related family bHLH transcription factor with YRPW motif-like, hes-related family bHLH transcription factor with YRPW motif-like HESR3, HEY3, bHLHb33 Yes No Comparative Toxicogenomics Database:26508, Ensembl:ENSG00000163909, GenAtlas:HEYL, GeneCard:HEYL, HGNC:HGNC:4882, HumanCyc Gene:HS08963, ModBase:Q9NQ87, NCBI Gene:26508, OMIM:609034, RefSeq DNA:NT_032977, RefSeq Protein:NP_055386, RefSeq RNA:NM_014571, UCSC Genome Browser:NM_014571, UniProtKB:Q9NQ87 No chr1 40089103 40105348 39623431 39639676 +PA29263 3077 HGNC:4886 ENSG00000010704 homeostatic iron regulator HFE hemochromatosis, high Fe HFE1, HLA-H Yes Yes Comparative Toxicogenomics Database:3077, Ensembl:ENSG00000010704, GenAtlas:HFE, GeneCard:HFE, HGNC:HGNC:4886, HumanCyc Gene:HS00291, ModBase:Q9HC64, NCBI Gene:3077, OMIM:104300, OMIM:176100, OMIM:176200, OMIM:190000, OMIM:235200, OMIM:612635, RefSeq DNA:NG_001335, RefSeq DNA:NG_008720, RefSeq DNA:NT_007592, RefSeq Protein:NP_000401, RefSeq Protein:NP_620572, RefSeq Protein:NP_620573, RefSeq Protein:NP_620575, RefSeq Protein:NP_620576, RefSeq Protein:NP_620577, RefSeq Protein:NP_620578, RefSeq Protein:NP_620579, RefSeq Protein:NP_620580, RefSeq RNA:NM_000410, RefSeq RNA:NM_139003, RefSeq RNA:NM_139004, RefSeq RNA:NM_139006, RefSeq RNA:NM_139007, RefSeq RNA:NM_139008, RefSeq RNA:NM_139009, RefSeq RNA:NM_139010, RefSeq RNA:NM_139011, UCSC Genome Browser:NM_000410, UniProtKB:Q30201, UniProtKB:Q96KU6 No chr6 26087422 26096438 26087281 26096216 +PA142671690 164045 HGNC:20193 ENSG00000162669 helicase for meiosis 1 HFM1 """HFM1, ATP dependent DNA helicase homolog"", ""HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)""" FLJ36760, FLJ39011, MER3, SEC63D1 Yes No Comparative Toxicogenomics Database:164045, Ensembl:ENSG00000162669, GeneCard:HFM1, HGNC:HGNC:20193, ModBase:A2PYH4, NCBI Gene:164045, RefSeq DNA:NT_032977, RefSeq Protein:NP_001017975, RefSeq RNA:NM_001017975, UniProtKB:A2PYH4 No chr1 91726323 91870426 91260766 91408008 +PA29268 3081 HGNC:4892 ENSG00000113924 homogentisate 1,2-dioxygenase HGD homogentisate oxidase AKU, HGO Yes No Comparative Toxicogenomics Database:3081, Ensembl:ENSG00000113924, GenAtlas:HGD, GeneCard:HGD, HGNC:HGNC:4892, HumanCyc Gene:HS03728, NCBI Gene:3081, OMIM:203500, OMIM:607474, RefSeq DNA:NG_011957, RefSeq DNA:NT_005612, RefSeq Protein:NP_000178, RefSeq RNA:NM_000187, UCSC Genome Browser:NM_000187, UniProtKB:Q93099 No chr3 120347015 120401418 120628168 120682571 +PA29269 3082 HGNC:4893 ENSG00000019991 hepatocyte growth factor HGF fibroblast-derived tumor cytotoxic factor, hepatocyte growth factor (hepapoietin A; scatter factor), hepatopoietin A, lung fibroblast-derived mitogen, scatter factor DFNB39, F-TCF, HGFB, HPTA, SF Yes No Comparative Toxicogenomics Database:3082, Ensembl:ENSG00000019991, GenAtlas:HGF, GeneCard:HGF, HGNC:HGNC:4893, HumanCyc Gene:HS00399, ModBase:Q9BYM0, NCBI Gene:3082, OMIM:142409, OMIM:608265, RefSeq DNA:NG_016274, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000592, RefSeq Protein:NP_001010931, RefSeq Protein:NP_001010932, RefSeq Protein:NP_001010933, RefSeq Protein:NP_001010934, RefSeq RNA:NM_000601, RefSeq RNA:NM_001010931, RefSeq RNA:NM_001010932, RefSeq RNA:NM_001010933, RefSeq RNA:NM_001010934, UCSC Genome Browser:NM_000601, UniProtKB:P14210 No chr7 81331444 81399452 81699006 81770438 +PA29270 3083 HGNC:4894 ENSG00000109758 HGF activator HGFAC HGFA, HGFAP Yes No Comparative Toxicogenomics Database:3083, Ensembl:ENSG00000109758, GenAtlas:HGFAC, GeneCard:HGFAC, HGNC:HGNC:4894, HumanCyc Gene:HS03256, ModBase:Q04756, NCBI Gene:3083, OMIM:604552, RefSeq DNA:NT_006051, RefSeq Protein:NP_001519, RefSeq RNA:NM_001528, UCSC Genome Browser:NM_001528, UniProtKB:Q04756 No chr4 3443702 3451214 3441933 3449495 +PA142672348 51236 HGNC:24161 ENSG00000235173 HGH1 homolog HGH1 """HGH1 homolog (S. cerevisiae)"", ""brain protein 16"", ""family with sequence similarity 203, member A""" Brp16, C8orf30A, C8orf30B, FAM203A, FAM203B, FLJ40907, LOC51236 Yes No Ensembl:ENSG00000235173, GeneCard:C8orf30A, HGNC:HGNC:24161, HumanCyc Gene:HS17355, ModBase:Q9BTY7, NCBI Gene:51236, RefSeq DNA:NT_008046, RefSeq Protein:NP_057542, RefSeq RNA:NM_016458, UniProtKB:Q9BTY7 No chr8 145192672 145195620 144137721 144140843 +PA29271 9146 HGNC:4897 ENSG00000185359 hepatocyte growth factor-regulated tyrosine kinase substrate HGS Hrs, Vps27, ZFYVE8 Yes No Comparative Toxicogenomics Database:9146, Ensembl:ENSG00000185359, GenAtlas:HGS, GeneCard:HGS, HGNC:HGNC:4897, ModBase:O14964, NCBI Gene:9146, OMIM:604375, RefSeq DNA:NT_010783, RefSeq Protein:NP_004703, RefSeq RNA:NM_004712, UCSC Genome Browser:NM_004712, UniProtKB:O14964 No chr17 79650962 79669151 81683932 81702121 +PA162390851 138050 HGNC:26527 ENSG00000165102 heparan-alpha-glucosaminide N-acetyltransferase HGSNAT FLJ32731, HGNAT, TMEM76 Yes No Ensembl:ENSG00000165102, GeneCard:HGSNAT, HGNC:HGNC:26527, HumanCyc Gene:HS15282, NCBI Gene:138050, OMIM:252930, OMIM:610453, RefSeq DNA:NG_009552, RefSeq DNA:NT_167187, RefSeq Protein:NP_689632, RefSeq RNA:NM_152419, UniProtKB:B4E2V0, UniProtKB:Q68CP4, UniProtKB:Q8IVU6 No chr8 42995592 43057970 43140449 43202827 +PA134926499 55733 HGNC:18270 ENSG00000054392 hedgehog acyltransferase HHAT protein-cysteine N-palmitoyltransferase HHAT FLJ10724, GUP2, MART-2, MART2, Skn, rasp, sit, ski Yes No Ensembl:ENSG00000054392, GeneCard:HHAT, HGNC:HGNC:18270, HumanCyc Gene:HS12135, NCBI Gene:55733, OMIM:605743, RefSeq DNA:NT_167186, RefSeq Protein:NP_001116306, RefSeq Protein:NP_001164035, RefSeq Protein:NP_001164051, RefSeq Protein:NP_001164058, RefSeq Protein:NP_001164059, RefSeq Protein:NP_060664, RefSeq RNA:NM_001122834, RefSeq RNA:NM_001170564, RefSeq RNA:NM_001170580, RefSeq RNA:NM_001170587, RefSeq RNA:NM_001170588, RefSeq RNA:NM_018194, UniProtKB:B7Z5I1, UniProtKB:B7Z5N1, UniProtKB:B7Z868, UniProtKB:Q5VTY9 No chr1 210501596 210849638 210327873 210676298 +PA162390892 57467 HGNC:13242 ENSG00000010282 hedgehog acyltransferase like HHATL Protein-cysteine N-palmitoyltransferase HHAT-like protein, hedgehog acyltransferase-like, membrane bound O-acyltransferase domain containing 3 C3orf3, GUP1, KIAA1173, MBOAT3, MSTP002, OACT3 Yes No Ensembl:ENSG00000010282, GeneCard:HHATL, HGNC:HGNC:13242, HumanCyc Gene:HS00280, NCBI Gene:57467, OMIM:608116, RefSeq DNA:NT_022517, RefSeq Protein:NP_065758, RefSeq RNA:NM_020707, RefSeq RNA:NR_027753, UniProtKB:Q5QTR4, UniProtKB:Q9HCP6 No chr3 42734155 42744319 42692663 42702849 +PA29274 3087 HGNC:4901 ENSG00000152804 hematopoietically expressed homeobox HHEX HEX, HOX11L-PEN, PRHX Yes No Comparative Toxicogenomics Database:3087, Ensembl:ENSG00000152804, GenAtlas:HHEX, GeneCard:HHEX, HGNC:HGNC:4901, HumanCyc Gene:HS07855, ModBase:Q03014, NCBI Gene:3087, OMIM:604420, RefSeq DNA:NT_030059, RefSeq Protein:NP_002720, RefSeq RNA:NM_002729, UCSC Genome Browser:NM_002729, UniProtKB:B1AQ17, UniProtKB:Q03014 No chr10 94449681 94455408 92689924 92695651 +PA29276 64399 HGNC:14866 ENSG00000164161 hedgehog interacting protein HHIP FLJ20992, HIP Yes No Comparative Toxicogenomics Database:64399, Ensembl:ENSG00000164161, GenAtlas:HHIP, GeneCard:HHIP, HGNC:HGNC:14866, HumanCyc Gene:HS15159, ModBase:Q96QV1, NCBI Gene:64399, OMIM:606178, RefSeq DNA:NG_011496, RefSeq DNA:NT_016354, RefSeq Protein:NP_071920, RefSeq RNA:NM_022475, UCSC Genome Browser:NM_022475, UniProtKB:Q96QV1 No chr4 145567148 145662542 144645996 144742645 +PA162390893 84439 HGNC:19710 ENSG00000182218 HHIP like 1 HHIPL1 HHIP-like 1 KIAA1822 Yes No Ensembl:ENSG00000182218, GeneCard:HHIPL1, HGNC:HGNC:19710, NCBI Gene:84439, RefSeq DNA:NT_026437, RefSeq Protein:NP_001120730, RefSeq Protein:NP_115801, RefSeq RNA:NM_001127258, RefSeq RNA:NM_032425, UniProtKB:Q96JK4 No chr14 100111480 100143011 99604476 99680569 +PA162390914 79802 HGNC:25842 ENSG00000143512 HHIP like 2 HHIPL2 HHIP-like 2 FLJ13840, KIAA1822L Yes No Ensembl:ENSG00000143512, GeneCard:HHIPL2, HGNC:HGNC:25842, HumanCyc Gene:HS13973, ModBase:Q6UWX4, NCBI Gene:79802, RefSeq DNA:NT_167186, RefSeq Protein:NP_079022, RefSeq RNA:NM_024746, UniProtKB:Q6UWX4 No chr1 222695602 222721444 222501521 222548102 +PA29277 10086 HGNC:4904 ENSG00000132297 HHLA1 neighbor of OC90 HHLA1 HERV-H LTR-associating 1 PLA2L Yes No Ensembl:ENSG00000132297, GenAtlas:HHLA1, GeneCard:HHLA1, HGNC:HGNC:4904, NCBI Gene:10086, OMIM:604109, RefSeq DNA:NT_008046, RefSeq Protein:NP_001138567, RefSeq RNA:NM_001145095, UCSC Genome Browser:NM_005712, UniProtKB:C9JL84 No chr8 133073733 133117512 132061486 132105265 +PA29278 11148 HGNC:4905 ENSG00000114455 HHLA2 member of B7 family HHLA2 HERV-H LTR-associating 2 B7-H5, B7-H7, B7H7, B7y Yes No Ensembl:ENSG00000114455, GenAtlas:HHLA2, GeneCard:HHLA2, HGNC:HGNC:4905, HumanCyc Gene:HS03771, ModBase:Q9UM44, NCBI Gene:11148, OMIM:604371, RefSeq DNA:NT_005612, RefSeq Protein:NP_009003, RefSeq RNA:NM_007072, UCSC Genome Browser:NM_007072, UniProtKB:Q9UM44 No chr3 108015353 108097132 108296490 108378285 +PA29279 11147 HGNC:4906 ENSG00000197568 HERV-H LTR-associating 3 HHLA3 Yes No Ensembl:ENSG00000197568, GenAtlas:HHLA3, GeneCard:HHLA3, HGNC:HGNC:4906, NCBI Gene:11147, OMIM:604372, RefSeq DNA:NT_032977, RefSeq Protein:NP_001026863, RefSeq Protein:NP_001031722, RefSeq Protein:NP_001031723, RefSeq RNA:NM_001031693, RefSeq RNA:NM_001036645, RefSeq RNA:NM_001036646, RefSeq RNA:NR_027404, UCSC Genome Browser:NM_007071, UniProtKB:Q5VZP2, UniProtKB:Q9XRX5 No chr1 70820493 70833706 70353840 70368023 +PA29280 11112 HGNC:4907 ENSG00000106049 3-hydroxyisobutyrate dehydrogenase HIBADH NS5ATP1 Yes No Comparative Toxicogenomics Database:11112, Ensembl:ENSG00000106049, GenAtlas:HIBADH, GeneCard:HIBADH, HGNC:HGNC:4907, HumanCyc Gene:HS02854, ModBase:P31937, NCBI Gene:11112, OMIM:608475, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_689953, RefSeq RNA:NM_152740, UCSC Genome Browser:NM_152740, UniProtKB:P31937, UniProtKB:Q546Z2 No chr7 27565059 27702620 27525440 27663001 +PA29281 26275 HGNC:4908 ENSG00000198130 3-hydroxyisobutyryl-CoA hydrolase HIBCH Yes No Comparative Toxicogenomics Database:26275, Ensembl:ENSG00000198130, GenAtlas:HIBCH, GeneCard:HIBCH, HGNC:HGNC:4908, HumanCyc Gene:HS03883, ModBase:Q6NVY1, NCBI Gene:26275, OMIM:250620, OMIM:610690, RefSeq DNA:NG_017062, RefSeq DNA:NT_005403, RefSeq Protein:NP_055177, RefSeq Protein:NP_932164, RefSeq RNA:NM_014362, RefSeq RNA:NM_198047, UCSC Genome Browser:NM_014362, UniProtKB:Q6NVY1 No chr2 191069355 191184771 190204634 190320045 +PA29282 3090 HGNC:4909 ENSG00000177374 HIC ZBTB transcriptional repressor 1 HIC1 hypermethylated in cancer 1 ZBTB29, ZNF901 Yes No Comparative Toxicogenomics Database:3090, Ensembl:ENSG00000177374, GenAtlas:HIC1, GeneCard:HIC1, HGNC:HGNC:4909, HumanCyc Gene:HS11161, ModBase:Q14526, NCBI Gene:3090, OMIM:603825, RefSeq DNA:NT_010718, RefSeq Protein:NP_001091672, RefSeq Protein:NP_006488, RefSeq RNA:NM_001098202, RefSeq RNA:NM_006497, UCSC Genome Browser:NM_006497, UniProtKB:Q14526 No chr17 1957454 1962981 2055099 2059687 +PA38357 23119 HGNC:18595 ENSG00000169635 HIC ZBTB transcriptional repressor 2 HIC2 hypermethylated in cancer 2 HRG22, KIAA1020, ZBTB30, ZNF907 Yes No Comparative Toxicogenomics Database:23119, Ensembl:ENSG00000169635, GenAtlas:HIC2, GeneCard:HIC2, HGNC:HGNC:18595, HumanCyc Gene:HS09981, ModBase:Q96JB3, NCBI Gene:23119, OMIM:607712, RefSeq DNA:NT_011520, RefSeq Protein:NP_055909, RefSeq RNA:NM_015094, UCSC Genome Browser:NM_015094, UniProtKB:Q96JB3 No chr22 21771693 21805752 21417402 21451463 +PA25583 283987 HGNC:15736 ENSG00000167861 HID1 domain containing HID1 downregulated in multiple cancer 1 C17orf28, DMC1, HID-1 Yes No Ensembl:ENSG00000167861, GenAtlas:C17orf28, GeneCard:C17orf28, HGNC:HGNC:15736, ModBase:Q8IV36, NCBI Gene:283987, OMIM:605752, RefSeq DNA:NT_010783, RefSeq Protein:NP_085133, RefSeq RNA:NM_030630, UCSC Genome Browser:NM_030630, UniProtKB:Q8IV36 No chr17 72946837 72968900 74950742 74972805 +PA29283 3091 HGNC:4910 ENSG00000100644 hypoxia inducible factor 1 subunit alpha HIF1A """Class E basic helix-loop-helix protein 78"", ""Member of PAS protein 1"", ""PAS domain-containing protein 8"", ""hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)""" HIF-1alpha, HIF1, MOP1, PASD8, bHLHe78 Yes Yes Comparative Toxicogenomics Database:3091, Ensembl:ENSG00000100644, GenAtlas:HIF1A, GeneCard:HIF1A, HGNC:HGNC:4910, HumanCyc Gene:HS02128, ModBase:Q16665, NCBI Gene:3091, OMIM:603348, RefSeq DNA:NT_026437, RefSeq Protein:NP_001521, RefSeq Protein:NP_851397, RefSeq RNA:NM_001530, RefSeq RNA:NM_181054, UCSC Genome Browser:NM_001530, UniProtKB:D0VY79, UniProtKB:Q16665 No chr14 62162118 62214977 61695401 61748259 +PA29284 55662 HGNC:17113 ENSG00000166135 hypoxia inducible factor 1 subunit alpha inhibitor HIF1AN """Peptide-aspartate beta-dioxygenase"", ""hypoxia inducible factor 1, alpha subunit inhibitor""" DKFZp762F1811, FIH1, FLJ20615, FLJ22027 Yes No Comparative Toxicogenomics Database:55662, Ensembl:ENSG00000166135, GenAtlas:HIF1AN, GeneCard:HIF1AN, HGNC:HGNC:17113, HumanCyc Gene:HS15407, ModBase:Q9NWT6, NCBI Gene:55662, OMIM:606615, RefSeq DNA:NT_030059, RefSeq Protein:NP_060372, RefSeq RNA:NM_017902, UCSC Genome Browser:NM_017902, UniProtKB:Q9NWT6 No chr10 102295641 102313681 100535884 100553924 +PA29285 64344 HGNC:15825 ENSG00000124440 hypoxia inducible factor 3 subunit alpha HIF3A hypoxia inducible factor 3, alpha subunit IPAS, MOP7, PASD7, bHLHe17 Yes No Ensembl:ENSG00000124440, GenAtlas:HIF3A, GeneCard:HIF3A, HGNC:HGNC:15825, HumanCyc Gene:HS04771, ModBase:Q9Y2N7, NCBI Gene:64344, OMIM:609976, RefSeq DNA:NT_011109, RefSeq Protein:NP_071907, RefSeq Protein:NP_690007, RefSeq Protein:NP_690008, RefSeq Protein:NP_690009, RefSeq RNA:NM_022462, RefSeq RNA:NM_152794, RefSeq RNA:NM_152795, RefSeq RNA:NM_152796, UCSC Genome Browser:NM_022462, UniProtKB:Q9Y2N7 No chr19 46800303 46846690 46297046 46343433 +PA142671681 25994 HGNC:29527 ENSG00000181061 HIG1 hypoxia inducible domain family member 1A HIGD1A """HIG1 hypoxia inducible domain family, member 1A"", ""hypoxia inducible gene 1""" DKFZP564K247, HIG1, RCF1A Yes No Comparative Toxicogenomics Database:25994, Ensembl:ENSG00000181061, GeneCard:HIGD1A, HGNC:HGNC:29527, HumanCyc Gene:HS17625, NCBI Gene:25994, RefSeq DNA:NT_022517, RefSeq Protein:NP_001093138, RefSeq Protein:NP_001093139, RefSeq Protein:NP_054775, RefSeq RNA:NM_001099668, RefSeq RNA:NM_001099669, RefSeq RNA:NM_014056, UniProtKB:Q9Y241 No chr3 42824400 42846027 42782908 42804535 +PA142671684 100129086 HGNC:22804 ENSG00000258016 HIG1 hypoxia inducible domain family, member 1A pseudogene 1 HIGD1AP1 Yes No Ensembl:ENSG00000258016, HGNC:HGNC:22804, NCBI Gene:100129086, RefSeq DNA:NG_009611, RefSeq DNA:NT_029419, RefSeq Protein:XP_001725721, RefSeq RNA:XM_001725669 No chr12 53535744 53537088 53141958 53143304 +PA142671682 51751 HGNC:24318 ENSG00000131097 HIG1 hypoxia inducible domain family member 1B HIGD1B HIG1 hypoxia inducible domain family, member 1B CLST11240, CLST11240-15 Yes No Ensembl:ENSG00000131097, GeneCard:HIGD1B, HGNC:HGNC:24318, HumanCyc Gene:HS13371, NCBI Gene:51751, RefSeq DNA:NT_010783, RefSeq Protein:NP_057522, RefSeq RNA:NM_016438, UniProtKB:Q9P298 No chr17 42923721 42927848 44844281 44850480 +PA142671683 613227 HGNC:28044 ENSG00000214511 HIG1 hypoxia inducible domain family member 1C HIGD1C HIG1 hypoxia inducible domain family, member 1C Gm921 Yes No Ensembl:ENSG00000214511, GeneCard:HIGD1C, HGNC:HGNC:28044, NCBI Gene:613227, RefSeq DNA:NT_029419, RefSeq Protein:NP_001103089, RefSeq RNA:NM_001109619, UniProtKB:A8MV81 No chr12 51346200 51364668 50936223 50972592 +PA142671685 192286 HGNC:28311 ENSG00000146066 HIG1 hypoxia inducible domain family member 2A HIGD2A HIG1 hypoxia inducible domain family, member 2A MGC2198, RCF1B Yes No Comparative Toxicogenomics Database:192286, Ensembl:ENSG00000146066, GeneCard:HIGD2A, HGNC:HGNC:28311, HumanCyc Gene:HS14129, NCBI Gene:192286, RefSeq DNA:NT_023133, RefSeq Protein:NP_620175, RefSeq RNA:NM_138820, UniProtKB:Q9BW72 No chr5 175815784 175816751 176388783 176389750 +PA142671686 123346 HGNC:26984 ENSG00000175202 HIG1 hypoxia inducible domain family member 2B HIGD2B HIG1 hypoxia inducible domain family, member 2B HIGD2BP Yes No Ensembl:ENSG00000175202, HGNC:HGNC:26984, NCBI Gene:123346, RefSeq RNA:NR_002780 No chr15 72968123 72978490 72675782 72686149 +PA144596492 51501 HGNC:26938 ENSG00000149196 heat shock protein nuclear import factor hikeshi HIKESHI """Hikeshi, heat shock protein nuclear import factor"", ""chromosome 11 open reading frame 73""" C11orf73, HSPC138, HSPC179, Hikeshi, OPI10 Yes No Ensembl:ENSG00000149196, GeneCard:C11orf73, HGNC:HGNC:26938, HumanCyc Gene:HS14269, ModBase:Q53FT3, NCBI Gene:51501, RefSeq DNA:NT_167190, RefSeq Protein:NP_057485, RefSeq RNA:NM_016401, RefSeq RNA:NR_024596, RefSeq RNA:NR_024597, RefSeq RNA:NR_024598, UniProtKB:Q53FT3 No chr11 86013253 86056985 86302211 86345943 +PA164717457 29923 HGNC:28859 ENSG00000135245 hypoxia inducible lipid droplet associated HILPDA hypoxia inducible gene 2, hypoxia inducible lipid droplet-associated C7orf68, FLJ21076, HIG-2, HIG2 Yes No Ensembl:ENSG00000135245, GeneCard:C7orf68, HGNC:HGNC:28859, HumanCyc Gene:HS05973, NCBI Gene:29923, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001092256, RefSeq Protein:NP_037464, RefSeq RNA:NM_001098786, RefSeq RNA:NM_013332, UniProtKB:Q9Y5L2 No chr7 128095884 128098472 128455830 128458418 +PA164720597 25988 HGNC:17850 ENSG00000172273 histone H4 transcription factor HINFP histone nuclear factor P DKFZP434F162, HiNF-P, MIZF, ZNF743 Yes No Ensembl:ENSG00000172273, GeneCard:HINFP, HGNC:HGNC:17850, HumanCyc Gene:HS16066, NCBI Gene:25988, OMIM:607099, RefSeq DNA:NT_033899, RefSeq Protein:NP_056332, RefSeq Protein:NP_945322, RefSeq RNA:NM_015517, RefSeq RNA:NM_198971, UniProtKB:Q9BQA5 No chr11 118992233 119005765 119121523 119135055 +PA29286 3094 HGNC:4912 ENSG00000169567 histidine triad nucleotide binding protein 1 HINT1 HINT, PKCI-1, PRKCNH1 Yes Yes Comparative Toxicogenomics Database:3094, Ensembl:ENSG00000169567, GenAtlas:HINT1, GeneCard:HINT1, HGNC:HGNC:4912, HumanCyc Gene:HS09969, ModBase:P49773, NCBI Gene:3094, OMIM:601314, RefSeq DNA:NT_034772, RefSeq Protein:NP_005331, RefSeq RNA:NM_005340, RefSeq RNA:NR_024610, RefSeq RNA:NR_024611, UCSC Genome Browser:NM_005340, UniProtKB:P49773 No chr5 130494976 130501041 131159283 131165348 +PA29287 84681 HGNC:18344 ENSG00000137133 histidine triad nucleotide binding protein 2 HINT2 Yes No Comparative Toxicogenomics Database:84681, Ensembl:ENSG00000137133, GenAtlas:HINT2, GeneCard:HINT2, HGNC:HGNC:18344, HumanCyc Gene:HS13662, ModBase:Q9BX68, NCBI Gene:84681, OMIM:609997, RefSeq DNA:NT_008413, RefSeq Protein:NP_115982, RefSeq RNA:NM_032593, UCSC Genome Browser:NM_032593, UniProtKB:Q9BX68 No chr9 35812957 35815481 35812960 35815045 +PA29288 135114 HGNC:18468 ENSG00000111911 histidine triad nucleotide binding protein 3 HINT3 FLJ33126, HINT4 Yes No Ensembl:ENSG00000111911, GenAtlas:HINT3, GeneCard:HINT3, HGNC:HGNC:18468, HumanCyc Gene:HS12759, ModBase:Q9NQE9, NCBI Gene:135114, OMIM:609998, RefSeq DNA:NT_025741, RefSeq Protein:NP_612638, RefSeq RNA:NM_138571, UCSC Genome Browser:NM_138571, UniProtKB:Q9NQE9 No chr6 126277861 126301390 125956715 125980244 +PA29289 3092 HGNC:4913 ENSG00000127946 huntingtin interacting protein 1 HIP1 ILWEQ Yes No Comparative Toxicogenomics Database:3092, Ensembl:ENSG00000127946, GenAtlas:HIP1, GeneCard:HIP1, HGNC:HGNC:4913, HumanCyc Gene:HS05138, ModBase:O00291, NCBI Gene:3092, OMIM:176807, OMIM:601767, RefSeq DNA:NG_023251, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_005329, RefSeq RNA:NM_005338, UCSC Genome Browser:NM_005338, UniProtKB:O00291, UniProtKB:Q8TDA4 No chr7 75162619 75368290 75533298 75738976 +PA128394543 9026 HGNC:18415 ENSG00000130787 huntingtin interacting protein 1 related HIP1R FLJ14000, HIP12, HIP3, ILWEQ, KIAA0655 Yes No Comparative Toxicogenomics Database:9026, Ensembl:ENSG00000130787, GeneCard:HIP1R, HGNC:HGNC:18415, ModBase:O75146, NCBI Gene:9026, OMIM:605613, RefSeq DNA:NT_009755, RefSeq Protein:NP_003950, RefSeq RNA:NM_003959, UniProtKB:B3KN98, UniProtKB:B3KQW8, UniProtKB:O75146, UniProtKB:Q6NXG8 No chr12 123319045 123347508 122834498 122862961 +PA134897980 204851 HGNC:19006 ENSG00000163349 homeodomain interacting protein kinase 1 HIPK1 KIAA0630, MGC26642, MGC33446, MGC33548, Myak, Nbak2 Yes No Comparative Toxicogenomics Database:204851, Ensembl:ENSG00000163349, GeneCard:HIPK1, HGNC:HGNC:19006, HumanCyc Gene:HS08834, ModBase:Q8NEB6, NCBI Gene:204851, OMIM:608003, RefSeq DNA:NT_032977, RefSeq Protein:NP_689909, RefSeq Protein:NP_852003, RefSeq Protein:NP_938009, RefSeq Protein:NP_938010, RefSeq RNA:NM_152696, RefSeq RNA:NM_181358, RefSeq RNA:NM_198268, RefSeq RNA:NM_198269, UniProtKB:Q86Z02 No chr1 114471819 114520491 113929197 113977869 +PA29291 28996 HGNC:14402 ENSG00000064393 homeodomain interacting protein kinase 2 HIPK2 Yes No Comparative Toxicogenomics Database:28996, Ensembl:ENSG00000064393, GenAtlas:HIPK2, GeneCard:HIPK2, HGNC:HGNC:14402, HumanCyc Gene:HS00803, ModBase:Q9H2X6, NCBI Gene:28996, OMIM:606868, RefSeq DNA:NT_007914, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001106710, RefSeq Protein:NP_073577, RefSeq Protein:XP_001716879, RefSeq Protein:XP_930893, RefSeq RNA:NM_001113239, RefSeq RNA:NM_022740, RefSeq RNA:XM_001716827, RefSeq RNA:XM_925800, UCSC Genome Browser:NM_022740, UniProtKB:Q9H2X6 No chr7 +PA29292 10114 HGNC:4915 ENSG00000110422 homeodomain interacting protein kinase 3 HIPK3 DYRK6, FIST3, PKY, YAK1 Yes No Comparative Toxicogenomics Database:10114, Ensembl:ENSG00000110422, GenAtlas:HIPK3, GeneCard:HIPK3, HGNC:HGNC:4915, HumanCyc Gene:HS03308, ModBase:Q9H422, NCBI Gene:10114, OMIM:604424, RefSeq DNA:NT_009237, RefSeq Protein:NP_001041665, RefSeq Protein:NP_005725, RefSeq RNA:NM_001048200, RefSeq RNA:NM_005734, UCSC Genome Browser:NM_005734, UniProtKB:Q9H422 No chr11 33274406 33378569 33256672 33357023 +PA134883524 147746 HGNC:19007 ENSG00000160396 homeodomain interacting protein kinase 4 HIPK4 FLJ32818 Yes No Ensembl:ENSG00000160396, GeneCard:HIPK4, HGNC:HGNC:19007, HumanCyc Gene:HS08497, ModBase:Q8NE63, NCBI Gene:147746, OMIM:611712, RefSeq DNA:NT_011109, RefSeq Protein:NP_653286, RefSeq RNA:NM_144685, UniProtKB:Q8NE63 No chr19 40885178 40896094 40379271 40390221 +PA29293 7290 HGNC:4916 ENSG00000100084 histone cell cycle regulator HIRA DiGeorge critical region gene 1, HIR histone cell cycle regulation defective homolog A (S. cerevisiae), histone regulator A DGCR1, TUP1, TUPLE1 Yes No Comparative Toxicogenomics Database:7290, Ensembl:ENSG00000100084, GenAtlas:HIRA, GeneCard:HIRA, HGNC:HGNC:4916, HumanCyc Gene:HS01973, ModBase:P54198, NCBI Gene:7290, OMIM:600237, RefSeq DNA:NG_009231, RefSeq DNA:NT_011519, RefSeq Protein:NP_003316, RefSeq RNA:NM_003325, UCSC Genome Browser:NM_003325, UniProtKB:P54198 No chr22 19318221 19419247 19330701 19431696 +PA29294 8479 HGNC:4917 ENSG00000149929 HIRA interacting protein 3 HIRIP3 Yes No Comparative Toxicogenomics Database:8479, Ensembl:ENSG00000149929, GenAtlas:HIRIP3, GeneCard:HIRIP3, HGNC:HGNC:4917, HumanCyc Gene:HS07649, ModBase:Q9BW71, NCBI Gene:8479, OMIM:603365, RefSeq DNA:NT_010393, RefSeq Protein:NP_003600, RefSeq RNA:NM_003609, UCSC Genome Browser:NM_003609, UniProtKB:Q9BW71 No chr16 30003642 30007417 29992321 29996096 +PA29297 3096 HGNC:4920 ENSG00000095951 HIVEP zinc finger 1 HIVEP1 human immunodeficiency virus type I enhancer binding protein 1 CIRIP, CRYBP1, MBP-1, PRDII-BF1, Schnurri-1, ZAS1, ZNF40, ZNF40A Yes No Comparative Toxicogenomics Database:3096, Ensembl:ENSG00000095951, GenAtlas:HIVEP1, GeneCard:HIVEP1, HGNC:HGNC:4920, HumanCyc Gene:HS01838, ModBase:P15822, NCBI Gene:3096, OMIM:194540, RefSeq DNA:NT_007592, RefSeq Protein:NP_002105, RefSeq RNA:NM_002114, UCSC Genome Browser:NM_002114, UniProtKB:P15822 No chr6 12012724 12212270 12002096 12212034 +PA29298 3097 HGNC:4921 ENSG00000010818 HIVEP zinc finger 2 HIVEP2 c-myc intron binding protein 1, human immunodeficiency virus type I enhancer binding protein 2 HIV-EP2, MBP-2, MIBP1, Schnurri-2, ZAS2, ZNF40B Yes No Comparative Toxicogenomics Database:3097, Ensembl:ENSG00000010818, GenAtlas:HIVEP2, GeneCard:HIVEP2, HGNC:HGNC:4921, HumanCyc Gene:HS00294, ModBase:P31629, NCBI Gene:3097, OMIM:143054, RefSeq DNA:NT_025741, RefSeq Protein:NP_006725, RefSeq RNA:NM_006734, UCSC Genome Browser:NM_006734, UniProtKB:P31629 No chr6 143072604 143267495 142751467 142945201 +PA29299 59269 HGNC:13561 ENSG00000127124 HIVEP zinc finger 3 HIVEP3 human immunodeficiency virus type I enhancer binding protein 3, kappabinding protein-1 FLJ16752, KBP-1, KBP1, KIAA1555, KRC, SHN3, Schnurri-3, ZAS3, ZNF40C Yes No Comparative Toxicogenomics Database:59269, Ensembl:ENSG00000127124, GenAtlas:HIVEP3, GeneCard:HIVEP3, HGNC:HGNC:13561, HumanCyc Gene:HS05075, ModBase:Q5T1R4, NCBI Gene:59269, OMIM:606649, RefSeq DNA:NT_032977, RefSeq Protein:NP_001121186, RefSeq Protein:NP_078779, RefSeq RNA:NM_001127714, RefSeq RNA:NM_024503, RefSeq RNA:NR_038260, RefSeq RNA:NR_038261, UCSC Genome Browser:NM_024503, UniProtKB:Q5T1R4 No chr1 41972036 42501596 41506365 42035925 +PA162390937 55355 HGNC:25444 ENSG00000123485 Holliday junction recognition protein HJURP DKFZp762E1312, FAKTS, URLC9, hFLEG1 Yes No Ensembl:ENSG00000123485, GeneCard:HJURP, HGNC:HGNC:25444, HumanCyc Gene:HS13092, NCBI Gene:55355, OMIM:612667, RefSeq DNA:NT_005120, RefSeq Protein:NP_060880, RefSeq RNA:NM_018410, UniProtKB:Q8NCD3 No chr2 234745486 234763212 233836701 233854566 +PA29264 148738 HGNC:4887 ENSG00000168509 hemojuvelin BMP co-receptor HJV hemochromatosis type 2 (juvenile), repulsive guidance molecule c HFE2, HFE2A, HJV, JH, RGMC, haemojuvelin, hemojuvelin Yes No Comparative Toxicogenomics Database:148738, Ensembl:ENSG00000168509, GenAtlas:HFE2, GeneCard:HFE2, HGNC:HGNC:4887, HumanCyc Gene:HS15680, ModBase:Q6ZVN8, NCBI Gene:148738, OMIM:602390, OMIM:608374, RefSeq DNA:NG_011568, RefSeq DNA:NT_167185, RefSeq Protein:NP_660320, RefSeq Protein:NP_973733, RefSeq Protein:NP_998817, RefSeq Protein:NP_998818, RefSeq RNA:NM_145277, RefSeq RNA:NM_202004, RefSeq RNA:NM_213652, RefSeq RNA:NM_213653, UniProtKB:A8K466, UniProtKB:Q6ZVN8 No chr1 145413191 145417545 146017468 146021822 +PA29300 3098 HGNC:4922 ENSG00000156515 hexokinase 1 HK1 Yes No Comparative Toxicogenomics Database:3098, Ensembl:ENSG00000156515, GenAtlas:HK1, GeneCard:HK1, HGNC:HGNC:4922, HumanCyc Gene:HS08136, ModBase:P19367, NCBI Gene:3098, OMIM:142600, OMIM:235700, RefSeq DNA:NG_012077, RefSeq DNA:NT_030059, RefSeq Protein:NP_000179, RefSeq Protein:NP_277031, RefSeq Protein:NP_277032, RefSeq Protein:NP_277033, RefSeq Protein:NP_277035, RefSeq RNA:NM_000188, RefSeq RNA:NM_033496, RefSeq RNA:NM_033497, RefSeq RNA:NM_033498, RefSeq RNA:NM_033500, UCSC Genome Browser:NM_000188, UniProtKB:A8K7J7, UniProtKB:B3KXY9, UniProtKB:P19367, UniProtKB:P78542, UniProtKB:Q59FD4 No chr10 71029740 71161638 69270000 69401882 +PA29301 3099 HGNC:4923 ENSG00000159399 hexokinase 2 HK2 Yes No Comparative Toxicogenomics Database:3099, Ensembl:ENSG00000159399, GenAtlas:HK2, GeneCard:HK2, HGNC:HGNC:4923, HumanCyc Gene:HS08399, ModBase:P52789, NCBI Gene:3099, OMIM:601125, RefSeq DNA:NT_022184, RefSeq Protein:NP_000180, RefSeq RNA:NM_000189, UCSC Genome Browser:NM_000189, UniProtKB:P52789 No chr2 75059782 75120481 74832655 74893354 +PA29302 642546 HGNC:4924 ENSG00000228612 hexokinase 2 pseudogene 1 HK2P1 Yes No Ensembl:ENSG00000228612, GenAtlas:HK2P, GeneCard:HK2P1, HGNC:HGNC:4924, NCBI Gene:642546, RefSeq DNA:NG_009860, RefSeq DNA:NT_011651, RefSeq RNA:XR_038521, RefSeq RNA:XR_038655, RefSeq RNA:XR_038841 No chrX 79824933 79830537 80569434 80575038 +PA29303 3101 HGNC:4925 ENSG00000160883 hexokinase 3 HK3 hexokinase 3 (white cell) Yes No Comparative Toxicogenomics Database:3101, Ensembl:ENSG00000160883, GenAtlas:HK3, GeneCard:HK3, HGNC:HGNC:4925, HumanCyc Gene:HS08548, ModBase:P52790, NCBI Gene:3101, OMIM:142570, RefSeq DNA:NT_023133, RefSeq Protein:NP_002106, RefSeq RNA:NM_002115, UCSC Genome Browser:NM_002115, UniProtKB:P52790 No chr5 176307870 176326333 176880869 176899373 +PA134866195 80201 HGNC:23302 ENSG00000156510 hexokinase domain containing 1 HKDC1 FLJ22761, FLJ37767 Yes No Comparative Toxicogenomics Database:80201, Ensembl:ENSG00000156510, GeneCard:HKDC1, HGNC:HGNC:23302, HumanCyc Gene:HS08135, ModBase:Q2TB90, NCBI Gene:80201, RefSeq DNA:NT_030059, RefSeq Protein:NP_079406, RefSeq RNA:NM_025130, UniProtKB:B3KT70, UniProtKB:Q2TB90 No chr10 70980059 71027315 69220303 69267559 +PA35055 3105 HGNC:4931 ENSG00000206503 major histocompatibility complex, class I, A HLA-A Yes Yes Comparative Toxicogenomics Database:3105, Ensembl:ENSG00000206503, GenAtlas:HLA-A, GeneCard:HLA-A, HGNC:HGNC:4931, HumanCyc Gene:HS06330, HumanCyc Gene:HS11577, ModBase:P05534, ModBase:P10314, ModBase:P10315, ModBase:P16188, ModBase:P16190, ModBase:P18462, ModBase:P30443, ModBase:P30447, ModBase:P30453, ModBase:P30455, ModBase:P30456, ModBase:P30457, ModBase:P30459, ModBase:P30512, ModBase:Q09160, ModBase:Q9BD19, ModBase:Q9MYG4, ModBase:Q9TQH5, ModBase:Q9TQP6, ModBase:Q9UQU7, NCBI Gene:3105, OMIM:106300, OMIM:142800, OMIM:608579, RefSeq DNA:NG_002398, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001229687, RefSeq Protein:NP_002107, RefSeq RNA:NM_001242758, RefSeq RNA:NM_002116, UCSC Genome Browser:NM_002116, UniProtKB:B1PKY1, UniProtKB:B2R7U3, UniProtKB:P04439 Yes chr6 29910247 29913661 29942470 29945884 +PA35056 3106 HGNC:4932 ENSG00000234745 major histocompatibility complex, class I, B HLA-B AS Yes Yes Comparative Toxicogenomics Database:3106, Ensembl:ENSG00000234745, GenAtlas:HLA-B, GeneCard:HLA-B, HGNC:HGNC:4932, HumanCyc Gene:HS11467, ModBase:P01889, ModBase:P10319, ModBase:P18463, ModBase:P18464, ModBase:P18465, ModBase:P30461, ModBase:P30462, ModBase:P30474, ModBase:P30479, ModBase:P30480, ModBase:P30483, ModBase:P30484, ModBase:P30485, ModBase:P30486, ModBase:P30487, ModBase:P30488, ModBase:P30490, ModBase:P30492, ModBase:P30493, ModBase:P30495, ModBase:P30498, ModBase:Q29718, ModBase:Q29836, ModBase:Q29846, ModBase:Q29847, ModBase:Q29855, ModBase:Q29940, ModBase:Q29982, ModBase:Q31610, ModBase:Q31612, ModBase:Q9BCM7, ModBase:Q9BCM8, ModBase:Q9MY78, ModBase:Q9TP36, ModBase:Q9TP37, NCBI Gene:3106, OMIM:106300, OMIM:142830, OMIM:608579, RefSeq DNA:NG_002397, RefSeq DNA:NG_023187, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_005505, RefSeq RNA:NM_005514, UCSC Genome Browser:NM_005514, UniProtKB:P01889 Yes chr6 31321649 31324989 31353866 31357245 +PA35057 3107 HGNC:4933 ENSG00000204525 major histocompatibility complex, class I, C HLA-C D6S204, HLA-JY3, PSORS1 Yes Yes Comparative Toxicogenomics Database:3107, Ensembl:ENSG00000204525, GenAtlas:HLA-C, GeneCard:HLA-C, HGNC:HGNC:4933, HumanCyc Gene:HS11468, ModBase:P30499, ModBase:P30501, ModBase:P30504, ModBase:P30505, ModBase:P30510, ModBase:Q07000, ModBase:Q29865, ModBase:Q29960, ModBase:Q29963, ModBase:Q29993, ModBase:Q95603, ModBase:Q95604, ModBase:Q9TNN7, ModBase:Q9UM32, NCBI Gene:3107, OMIM:142840, OMIM:177900, OMIM:609423, RefSeq DNA:NG_002397, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002108, RefSeq Protein:XP_003403605, RefSeq Protein:XP_003403606, RefSeq Protein:XP_003403607, RefSeq Protein:XP_003403608, RefSeq Protein:XP_003403609, RefSeq Protein:XP_003403610, RefSeq Protein:XP_003403611, RefSeq Protein:XP_003403612, RefSeq Protein:XP_003403613, RefSeq Protein:XP_003403614, RefSeq Protein:XP_003403615, RefSeq Protein:XP_003403616, RefSeq Protein:XP_003403617, RefSeq Protein:XP_003403618, RefSeq Protein:XP_003403619, RefSeq RNA:NM_002117, RefSeq RNA:XM_003403557, RefSeq RNA:XM_003403558, RefSeq RNA:XM_003403559, RefSeq RNA:XM_003403560, RefSeq RNA:XM_003403561, RefSeq RNA:XM_003403562, RefSeq RNA:XM_003403563, RefSeq RNA:XM_003403564, RefSeq RNA:XM_003403565, RefSeq RNA:XM_003403566, RefSeq RNA:XM_003403567, RefSeq RNA:XM_003403568, RefSeq RNA:XM_003403569, RefSeq RNA:XM_003403570, RefSeq RNA:XM_003403571, UCSC Genome Browser:NM_002117, UniProtKB:P10321, UniProtKB:Q6R739, UniProtKB:Q95HC2 No chr6 31236526 31239913 31268749 31272136 +PA35058 3108 HGNC:4934 ENSG00000204257, ENSG00000239463, ENSG00000242361, ENSG00000242685, ENSG00000243189, ENSG00000243215, ENSG00000243719 major histocompatibility complex, class II, DM alpha HLA-DMA D6S222E, RING6 Yes No Comparative Toxicogenomics Database:3108, Ensembl:ENSG00000204257, Ensembl:ENSG00000239463, Ensembl:ENSG00000242361, Ensembl:ENSG00000242685, Ensembl:ENSG00000243189, Ensembl:ENSG00000243215, Ensembl:ENSG00000243719, GenAtlas:HLA-DMA, GeneCard:HLA-DMA, HGNC:HGNC:4934, HumanCyc Gene:HS04790, ModBase:P28067, NCBI Gene:3108, OMIM:142855, RefSeq DNA:NG_012006, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_006111, RefSeq RNA:NM_006120, UCSC Genome Browser:NM_006120, UniProtKB:Q31604, UniProtKB:Q6ICR9 No chr6 32916391 32920900 32948614 32953122 +PA35059 3109 HGNC:4935 ENSG00000226264, ENSG00000239329, ENSG00000241674, ENSG00000242092, ENSG00000242574 major histocompatibility complex, class II, DM beta HLA-DMB D6S221E, RING7 Yes No Comparative Toxicogenomics Database:3109, Ensembl:ENSG00000226264, Ensembl:ENSG00000239329, Ensembl:ENSG00000241674, Ensembl:ENSG00000242092, Ensembl:ENSG00000242574, GenAtlas:HLA-DMB, GeneCard:HLA-DMB, HGNC:HGNC:4935, HumanCyc Gene:HS03513, ModBase:P28068, NCBI Gene:3109, OMIM:142856, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002109, RefSeq RNA:NM_002118, UCSC Genome Browser:NM_002118, UniProtKB:P28068 No chr6 32902406 32908847 32934629 32941070 +PA35060 3111 HGNC:4936 ENSG00000204252, ENSG00000206292, ENSG00000230141, ENSG00000231558, ENSG00000232957, ENSG00000232962, ENSG00000235744 major histocompatibility complex, class II, DO alpha HLA-DOA HLA-D0-alpha, HLA-DNA, HLA-DZA Yes No Ensembl:ENSG00000204252, Ensembl:ENSG00000206292, Ensembl:ENSG00000230141, Ensembl:ENSG00000231558, Ensembl:ENSG00000232957, Ensembl:ENSG00000232962, Ensembl:ENSG00000235744, GenAtlas:HLA-DOA, GeneCard:HLA-DOA, HGNC:HGNC:4936, HumanCyc Gene:HS03514, ModBase:Q9TQD3, NCBI Gene:3111, OMIM:142930, RefSeq DNA:NG_012007, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002110, RefSeq RNA:NM_002119, UCSC Genome Browser:NM_002119, UniProtKB:P06340 No chr6 32971959 32977389 33004182 33009612 +PA35061 3112 HGNC:4937 ENSG00000239457, ENSG00000241106, ENSG00000241386, ENSG00000241910, ENSG00000243612 major histocompatibility complex, class II, DO beta HLA-DOB Yes Yes Comparative Toxicogenomics Database:3112, Ensembl:ENSG00000239457, Ensembl:ENSG00000241106, Ensembl:ENSG00000241386, Ensembl:ENSG00000241910, Ensembl:ENSG00000243612, GenAtlas:HLA-DOB, GeneCard:HLA-DOB, HGNC:HGNC:4937, ModBase:P13765, NCBI Gene:3112, OMIM:600629, RefSeq DNA:NG_012008, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167249, RefSeq Protein:NP_002111, RefSeq RNA:NM_002120, UCSC Genome Browser:NM_002120, UniProtKB:P13765, UniProtKB:Q5QNS2 No chr6 32780540 32784825 32812763 32817048 +PA35062 3113 HGNC:4938 ENSG00000168384, ENSG00000206291, ENSG00000224103, ENSG00000228163, ENSG00000229685, ENSG00000231389, ENSG00000235844, ENSG00000236177 major histocompatibility complex, class II, DP alpha 1 HLA-DPA1 HLA-DP1A Yes Yes Comparative Toxicogenomics Database:3113, Ensembl:ENSG00000168384, Ensembl:ENSG00000206291, Ensembl:ENSG00000224103, Ensembl:ENSG00000228163, Ensembl:ENSG00000229685, Ensembl:ENSG00000231389, Ensembl:ENSG00000235844, Ensembl:ENSG00000236177, GenAtlas:HLA-DPA1, GeneCard:HLA-DPA1, HGNC:HGNC:4938, HumanCyc Gene:HS09742, ModBase:P20036, NCBI Gene:3113, OMIM:142880, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001229453, RefSeq Protein:NP_001229454, RefSeq Protein:NP_291032, RefSeq RNA:NM_001242524, RefSeq RNA:NM_001242525, RefSeq RNA:NM_033554, UCSC Genome Browser:NM_033554, UniProtKB:P20036, UniProtKB:Q5STP1 No chr6 33032346 33048555 33064569 33080778 +PA35063 646702 HGNC:4939 ENSG00000231461 major histocompatibility complex, class II, DP alpha 2 (pseudogene) HLA-DPA2 Yes No Ensembl:ENSG00000231461, GenAtlas:HLA-DPA2, GeneCard:HLA-DPA2, HGNC:HGNC:4939, NCBI Gene:646702, RefSeq DNA:NG_009861, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 33059259 33061091 33091482 33093314 +PA134958917 267013 HGNC:19393 ENSG00000237398 major histocompatibility complex, class II, DP alpha 3 (pseudogene) HLA-DPA3 Yes No Ensembl:ENSG00000237398, GeneCard:HLA-DPA3, HGNC:HGNC:19393, NCBI Gene:267013, RefSeq DNA:NG_011547, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167249 No chr6 33098974 33099120 33131197 33131343 +PA35064 3115 HGNC:4940 ENSG00000223865, ENSG00000226826, ENSG00000237710 major histocompatibility complex, class II, DP beta 1 HLA-DPB1 HLA-DP1B Yes Yes Comparative Toxicogenomics Database:3115, Ensembl:ENSG00000223865, Ensembl:ENSG00000226826, Ensembl:ENSG00000237710, GenAtlas:HLA-DPB1, GeneCard:HLA-DPB1, HGNC:HGNC:4940, HumanCyc Gene:HS09741, ModBase:P01916, ModBase:P04232, ModBase:P04440, ModBase:P13763, NCBI Gene:3115, OMIM:142858, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002112, RefSeq RNA:NM_002121, UCSC Genome Browser:NM_002121, UniProtKB:P04440 No chr6 33043703 33057473 33075926 33089696 +PA35065 3116 HGNC:4941 ENSG00000224557 major histocompatibility complex, class II, DP beta 2 (pseudogene) HLA-DPB2 DP2B, DPB2 Yes Yes Ensembl:ENSG00000224557, GenAtlas:HLA-DPB2, GeneCard:HLA-DPB2, HGNC:HGNC:4941, NCBI Gene:3116, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_001435, RefSeq RNA:XR_078646 No chr6 33080293 33096890 33112516 33129113 +PA35066 3117 HGNC:4942 ENSG00000196735 major histocompatibility complex, class II, DQ alpha 1 HLA-DQA1 CELIAC1, HLA-DQA Yes Yes Comparative Toxicogenomics Database:3117, Ensembl:ENSG00000196735, GenAtlas:HLA-DQA1, GeneCard:HLA-DQA1, HGNC:HGNC:4942, ModBase:P01907, ModBase:P01909, ModBase:P04225, ModBase:P04226, ModBase:P05536, NCBI Gene:3117, OMIM:146880, OMIM:212750, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002113, RefSeq Protein:XP_001129369, RefSeq Protein:XP_001722157, RefSeq RNA:NM_002122, RefSeq RNA:XM_001129369, RefSeq RNA:XM_001722105, UCSC Genome Browser:NM_002122, UniProtKB:P01909, UniProtKB:Q08AS3 No chr6 32605169 32612152 32637403 32654846 +PA35067 3118 HGNC:4943 ENSG00000204276, ENSG00000223793, ENSG00000233192, ENSG00000237541 major histocompatibility complex, class II, DQ alpha 2 HLA-DQA2 HLA-DXA Yes No Comparative Toxicogenomics Database:3118, Ensembl:ENSG00000204276, Ensembl:ENSG00000223793, Ensembl:ENSG00000233192, Ensembl:ENSG00000237541, GenAtlas:HLA-DQA2, GeneCard:HLA-DQA2, HGNC:HGNC:4943, HumanCyc Gene:HS09429, ModBase:P01906, NCBI Gene:3118, OMIM:613503, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_064440, RefSeq RNA:NM_020056, UCSC Genome Browser:NM_020056, UniProtKB:P01906 No chr6 32709156 32714664 32741386 32746887 +PA35068 3119 HGNC:4944 ENSG00000179344 major histocompatibility complex, class II, DQ beta 1 HLA-DQB1 CELIAC1, HLA-DQB, IDDM1 Yes Yes Comparative Toxicogenomics Database:3119, Ensembl:ENSG00000179344, GenAtlas:HLA-DQB1, GeneCard:HLA-DQB1, HGNC:HGNC:4944, HumanCyc Gene:HS10665, ModBase:P01918, ModBase:P01919, ModBase:P01920, ModBase:P03992, ModBase:P05537, NCBI Gene:3119, OMIM:123400, OMIM:126200, OMIM:212750, OMIM:222100, OMIM:604305, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002114, RefSeq RNA:NM_002123, UCSC Genome Browser:NM_002123, UniProtKB:P01920, UniProtKB:Q5Y7D6 No chr6 32627241 32634466 32659464 32666689 +PA35069 3120 HGNC:4945 ENSG00000232629 major histocompatibility complex, class II, DQ beta 2 HLA-DQB2 HLA-DXB Yes No Ensembl:ENSG00000232629, GenAtlas:HLA-DQB2, GeneCard:HLA-DQB2, HGNC:HGNC:4945, HumanCyc Gene:HS11167, ModBase:P05538, NCBI Gene:3120, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001185787, RefSeq RNA:NM_001198858, RefSeq RNA:NR_003937, UCSC Genome Browser:NM_182549 No chr6 32723837 32731330 32756094 32763553 +PA35070 3121 HGNC:4946 ENSG00000226030 major histocompatibility complex, class II, DQ beta 3 HLA-DQB3 D6S205, D6S205E, DQB3, DVB Yes Yes Ensembl:ENSG00000226030, GenAtlas:HLA-DQB3, GeneCard:HLA-DQB3, HGNC:HGNC:4946, NCBI Gene:3121 No chr6 +PA35071 3122 HGNC:4947 ENSG00000204287, ENSG00000227993 major histocompatibility complex, class II, DR alpha HLA-DRA HLA-DRA1 Yes Yes Comparative Toxicogenomics Database:3122, Ensembl:ENSG00000204287, Ensembl:ENSG00000227993, GenAtlas:HLA-DRA, GeneCard:HLA-DRA, HGNC:HGNC:4947, ModBase:P01903, NCBI Gene:3122, OMIM:142860, RefSeq DNA:NG_002392, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_061984, RefSeq RNA:NM_019111, UCSC Genome Browser:NM_019111, UniProtKB:P01903 No chr6 32407619 32412823 32439842 32445046 +PA35072 3123 HGNC:4948 ENSG00000196126 major histocompatibility complex, class II, DR beta 1 HLA-DRB1 HLA-DR1B Yes Yes Comparative Toxicogenomics Database:3123, Ensembl:ENSG00000196126, GenAtlas:HLA-DRB1, GeneCard:HLA-DRB1, HGNC:HGNC:4948, ModBase:P01912, ModBase:P13761, ModBase:P20039, ModBase:Q30167, ModBase:Q5Y7B9, ModBase:Q5Y7E9, ModBase:Q9BCP2, ModBase:Q9MY13, ModBase:Q9TQE0, NCBI Gene:3123, OMIM:126200, OMIM:142857, OMIM:180300, OMIM:181000, RefSeq DNA:NG_002392, RefSeq DNA:NG_002432, RefSeq DNA:NG_002433, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002115, RefSeq RNA:NM_002124, UCSC Genome Browser:NM_002124, UniProtKB:P01911 No chr6 32546546 32557613 32578769 32589836 +PA35073 3124 HGNC:4950 ENSG00000227442 major histocompatibility complex, class II, DR beta 2 (pseudogene) HLA-DRB2 Yes No Ensembl:ENSG00000227442, GenAtlas:HLA-DRB2, GeneCard:HLA-DRB2, HGNC:HGNC:4950, NCBI Gene:3124, RefSeq DNA:NG_002392, RefSeq DNA:NT_113891 No chr6 3972666 3987695 3972560 3987589 +PA35074 3125 HGNC:4951 ENSG00000230463 major histocompatibility complex, class II, DR beta 3 HLA-DRB3 HLA-DR3B Yes Yes Comparative Toxicogenomics Database:3125, Ensembl:ENSG00000230463, GenAtlas:HLA-DRB3, GeneCard:HLA-DRB3, HGNC:HGNC:4951, ModBase:P79483, ModBase:Q9MYH4, NCBI Gene:3125, OMIM:612735, RefSeq DNA:NG_002392, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167248, RefSeq Protein:NP_072049, RefSeq Protein:XP_002346809, RefSeq Protein:XP_002346810, RefSeq RNA:NM_022555, RefSeq RNA:XM_002346768, RefSeq RNA:XM_002346769, UCSC Genome Browser:NM_022555, UniProtKB:P79483 No chr6 3934127 3947195 3934021 3947089 +PA35075 3126 HGNC:4952 ENSG00000227357, ENSG00000231021 major histocompatibility complex, class II, DR beta 4 HLA-DRB4 HLA-DR4B Yes No Ensembl:ENSG00000227357, Ensembl:ENSG00000231021, GenAtlas:HLA-DRB4, GeneCard:HLA-DRB4, HGNC:HGNC:4952, NCBI Gene:3126, RefSeq DNA:NG_002433, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167249, RefSeq Protein:NP_068818, RefSeq Protein:XP_002346292, RefSeq RNA:NM_021983, RefSeq RNA:XM_002346251, UCSC Genome Browser:NM_021983, UniProtKB:P13762 No chr6 3846047 3861015 3840427 3855395 +PA35076 3127 HGNC:4953 ENSG00000198502 major histocompatibility complex, class II, DR beta 5 HLA-DRB5 Yes Yes Comparative Toxicogenomics Database:3127, Ensembl:ENSG00000198502, GenAtlas:HLA-DRB5, GeneCard:HLA-DRB5, HGNC:HGNC:4953, ModBase:Q30154, NCBI Gene:3127, OMIM:604776, RefSeq DNA:NG_002432, RefSeq DNA:NT_007592, RefSeq Protein:NP_002116, RefSeq RNA:NM_002125, UCSC Genome Browser:NM_002125, UniProtKB:Q30154 No chr6 32485151 32498006 32517343 32530316 +PA35077 3128 HGNC:4954 ENSG00000229391 major histocompatibility complex, class II, DR beta 6 (pseudogene) HLA-DRB6 Yes No Ensembl:ENSG00000229391, GenAtlas:HLA-DRB6, GeneCard:HLA-DRB6, HGNC:HGNC:4954, NCBI Gene:3128, RefSeq DNA:NG_002432, RefSeq DNA:NT_007592, RefSeq DNA:NT_167248, RefSeq RNA:NR_001298 No chr6 32520490 32527779 32552713 32560002 +PA35078 3129 HGNC:4955 ENSG00000227099 major histocompatibility complex, class II, DR beta 7 (pseudogene) HLA-DRB7 Yes No Ensembl:ENSG00000227099, GenAtlas:HLA-DRB7, GeneCard:HLA-DRB7, HGNC:HGNC:4955, NCBI Gene:3129, RefSeq DNA:NG_002433, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167249 No chr6 3775261 3794587 3770665 3789002 +PA35079 3130 HGNC:4956 ENSG00000233697 major histocompatibility complex, class II, DR beta 8 (pseudogene) HLA-DRB8 Yes No Ensembl:ENSG00000233697, GenAtlas:HLA-DRB8, GeneCard:HLA-DRB8, HGNC:HGNC:4956, NCBI Gene:3130, RefSeq DNA:NG_002433, RefSeq DNA:NT_167249 No chr6 3893258 3970207 3887054 3889472 +PA35080 3132 HGNC:4957 ENSG00000196301 major histocompatibility complex, class II, DR beta 9 (pseudogene) HLA-DRB9 D6S206, D6S206E Yes No Ensembl:ENSG00000196301, GenAtlas:HLA-DRB9, GeneCard:HLA-DRB9, HGNC:HGNC:4957, NCBI Gene:3132, RefSeq DNA:NG_002392, RefSeq DNA:NG_002432, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891 No chr6 32427597 32427866 32459820 32460089 +PA35081 3133 HGNC:4962 ENSG00000204592, ENSG00000225201, ENSG00000236632 major histocompatibility complex, class I, E HLA-E Yes Yes Ensembl:ENSG00000204592, Ensembl:ENSG00000225201, Ensembl:ENSG00000236632, GenAtlas:HLA-E, GeneCard:HLA-E, HGNC:HGNC:4962, HumanCyc Gene:HS06326, ModBase:P13747, NCBI Gene:3133, OMIM:143010, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_005507, RefSeq RNA:NM_005516, UCSC Genome Browser:NM_005516, UniProtKB:P13747, UniProtKB:Q6DU44 No chr6 30457183 30461982 30489406 30494205 +PA35082 3134 HGNC:4963 ENSG00000137403, ENSG00000204642, ENSG00000206509, ENSG00000229698, ENSG00000235220, ENSG00000237508 major histocompatibility complex, class I, F HLA-F Yes No Comparative Toxicogenomics Database:3134, Ensembl:ENSG00000137403, Ensembl:ENSG00000204642, Ensembl:ENSG00000206509, Ensembl:ENSG00000229698, Ensembl:ENSG00000235220, Ensembl:ENSG00000237508, GenAtlas:HLA-F, GeneCard:HLA-F, HGNC:HGNC:4963, HumanCyc Gene:HS06337, ModBase:P30511, NCBI Gene:3134, OMIM:143110, RefSeq DNA:NG_012009, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001091948, RefSeq Protein:NP_001091949, RefSeq Protein:NP_061823, RefSeq RNA:NM_001098478, RefSeq RNA:NM_001098479, RefSeq RNA:NM_018950, UCSC Genome Browser:NM_018950, UniProtKB:P30511, UniProtKB:Q5JQI8, UniProtKB:Q8MGQ1, UniProtKB:Q95HC0 No chr6 29691117 29695073 29723340 29740355 +PA35083 3135 HGNC:4964 ENSG00000204632, ENSG00000206506, ENSG00000230413, ENSG00000233095, ENSG00000235346, ENSG00000235680, ENSG00000237216 major histocompatibility complex, class I, G HLA-G b2 microglobulin Yes Yes Comparative Toxicogenomics Database:3135, Ensembl:ENSG00000204632, Ensembl:ENSG00000206506, Ensembl:ENSG00000230413, Ensembl:ENSG00000233095, Ensembl:ENSG00000235346, Ensembl:ENSG00000235680, Ensembl:ENSG00000237216, GenAtlas:HLA-G, GeneCard:HLA-G, HGNC:HGNC:4964, HumanCyc Gene:HS09813, ModBase:P17693, NCBI Gene:3135, OMIM:142871, OMIM:600807, RefSeq DNA:NG_002398, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002118, RefSeq RNA:NM_002127, UCSC Genome Browser:NM_002127, UniProtKB:P17693, UniProtKB:Q6DU14 No chr6 29794756 29798899 29826967 29831130 +PA35084 3136 HGNC:4965 ENSG00000206341 major histocompatibility complex, class I, H (pseudogene) HLA-H Yes No Ensembl:ENSG00000206341, GenAtlas:HLA-H, GeneCard:HLA-H, HGNC:HGNC:4965, ModBase:P01893, NCBI Gene:3136, RefSeq DNA:NG_002398, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_001434 No chr6 29855383 29858856 29887760 29891080 +PA35085 3137 HGNC:4967 ENSG00000204622 major histocompatibility complex, class I, J (pseudogene) HLA-J CDA12, HLA-59 Yes No Comparative Toxicogenomics Database:3137, Ensembl:ENSG00000204622, GenAtlas:HLA-J, GeneCard:HLA-J, HGNC:HGNC:4967, NCBI Gene:3137, RefSeq DNA:NG_002398, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_024240 No chr6 29973748 29977733 30005971 30009956 +PA35086 3138 HGNC:4969 ENSG00000230795 major histocompatibility complex, class I, K (pseudogene) HLA-K HLA-70 Yes No Ensembl:ENSG00000230795, GenAtlas:HLA-K, GeneCard:HLA-K, HGNC:HGNC:4969, NCBI Gene:3138, RefSeq DNA:NG_002398, RefSeq DNA:NG_015982, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29894436 29897616 29926659 29929839 +PA35087 3139 HGNC:4970 ENSG00000243753 major histocompatibility complex, class I, L (pseudogene) HLA-L HLA-92 Yes No Ensembl:ENSG00000243753, GenAtlas:HLA-L, GeneCard:HLA-L, HGNC:HGNC:4970, NCBI Gene:3139, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001004349, RefSeq RNA:NM_001004349, RefSeq RNA:NR_027822 No chr6 30227339 30234728 30259562 30266951 +PA134993903 267014 HGNC:19406 ENSG00000224372 major histocompatibility complex, class I, N (pseudogene) HLA-N HLA-30 Yes No Ensembl:ENSG00000224372, GeneCard:HLA-N, HGNC:HGNC:19406, NCBI Gene:267014, RefSeq DNA:NG_009940, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 30318851 30319815 30351074 30352038 +PA134896135 352963 HGNC:21196 ENSG00000261548 major histocompatibility complex, class I, P (pseudogene) HLA-P dJ377H14.3 Yes No Ensembl:ENSG00000261548, HGNC:HGNC:21196, NCBI Gene:352963, RefSeq DNA:NG_002731, RefSeq DNA:NT_113891, RefSeq DNA:NT_113893 No chr6 29767821 29770856 29800044 29803079 +PA134977724 267015 HGNC:19395 ENSG00000225851 major histocompatibility complex, class I, S (pseudogene) HLA-S HLA-17 Yes No Ensembl:ENSG00000225851, GeneCard:HLA-S, HGNC:HGNC:19395, NCBI Gene:267015, RefSeq DNA:NG_009941, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 31349346 31350264 31381569 31382487 +PA134993197 352964 HGNC:23478 ENSG00000231130 major histocompatibility complex, class I, T (pseudogene) HLA-T Yes No Ensembl:ENSG00000231130, HGNC:HGNC:23478, NCBI Gene:352964, RefSeq DNA:NG_002398, RefSeq DNA:NT_007592 No chr6 29864220 29866724 29896443 29898947 +PA134981635 352965 HGNC:23477 ENSG00000228078 major histocompatibility complex, class I, U (pseudogene) HLA-U Em:AB023056.13 Yes No Ensembl:ENSG00000228078, HGNC:HGNC:23477, NCBI Gene:352965, RefSeq DNA:NG_002398, RefSeq DNA:NT_007592 No chr6 29901541 29902657 29933764 29934880 +PA134954046 352962 HGNC:23482 ENSG00000181126 major histocompatibility complex, class I, V (pseudogene) HLA-V dJ377H14.4 Yes No Ensembl:ENSG00000181126, HGNC:HGNC:23482, NCBI Gene:352962, RefSeq DNA:NG_002729, RefSeq DNA:NT_113891, RefSeq DNA:NT_113893 No chr6 29759530 29760527 29791753 29792750 +PA134937959 352966 HGNC:23425 ENSG00000235290 major histocompatibility complex, class I, W (pseudogene) HLA-W Yes No Ensembl:ENSG00000235290, HGNC:HGNC:23425, NCBI Gene:352966, RefSeq DNA:NG_002398, RefSeq DNA:NT_007592 No chr6 29923611 29926835 29955834 29959058 +PA134936664 267016 HGNC:19385 major histocompatibility complex, class I, X (pseudogene) HLA-X Yes No GeneCard:HLA-X, HGNC:HGNC:19385, NCBI Gene:267016, RefSeq DNA:NG_009943, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167249 No chr6 31429623 31430267 31461846 31462490 +PA134924202 267017 HGNC:19394 ENSG00000235301 major histocompatibility complex, class I, Z (pseudogene) HLA-Z HLA-Z1 Yes No Ensembl:ENSG00000235301, GeneCard:HLA-Z, HGNC:HGNC:19394, NCBI Gene:267017, RefSeq DNA:NG_009944, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 32864179 32864266 32896402 32896489 +PA29310 3141 HGNC:4976 ENSG00000159267 holocarboxylase synthetase HLCS biotin--protein ligase, holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) HCS Yes No Comparative Toxicogenomics Database:3141, Ensembl:ENSG00000159267, GenAtlas:HLCS, GeneCard:HLCS, HGNC:HGNC:4976, HumanCyc Gene:HS08386, ModBase:P50747, NCBI Gene:3141, OMIM:253270, OMIM:609018, RefSeq DNA:NG_016193, RefSeq DNA:NT_011512, RefSeq Protein:NP_000402, RefSeq Protein:NP_001229713, RefSeq Protein:NP_001229714, RefSeq RNA:NM_000411, RefSeq RNA:NM_001242784, RefSeq RNA:NM_001242785, UCSC Genome Browser:NM_000411, UniProtKB:P50747 No chr21 38123189 38362545 36750888 36990254 +PA29311 3131 HGNC:4977 ENSG00000108924 HLF transcription factor, PAR bZIP family member HLF """HLF, PAR bZIP transcription factor"", ""hepatic leukemia factor""" MGC33822 Yes No Comparative Toxicogenomics Database:3131, Ensembl:ENSG00000108924, GenAtlas:HLF, GeneCard:HLF, HGNC:HGNC:4977, HumanCyc Gene:HS03177, ModBase:Q16534, NCBI Gene:3131, OMIM:142385, RefSeq DNA:NT_010783, RefSeq Protein:NP_002117, RefSeq RNA:NM_002126, UCSC Genome Browser:NM_002126, UniProtKB:Q16534, UniProtKB:Q6FHS9 No chr17 53342321 53402426 55264960 55325065 +PA35949 6596 HGNC:11099 ENSG00000071794 helicase like transcription factor HLTF helicase-like transcription factor HIP116A, HLTF1, RNF80, SMARCA3, SNF2L3 Yes No Comparative Toxicogenomics Database:6596, Ensembl:ENSG00000071794, GenAtlas:SMARCA3, GeneCard:HLTF, GeneCard:SMARCA3, HGNC:HGNC:11099, HumanCyc Gene:HS01040, NCBI Gene:6596, OMIM:603257, RefSeq DNA:NT_005612, RefSeq Protein:NP_003062, RefSeq Protein:NP_620636, RefSeq RNA:NM_003071, RefSeq RNA:NM_139048, UCSC Genome Browser:NM_003071, UniProtKB:Q05BZ6, UniProtKB:Q14527 No chr3 148747904 148804341 149030064 149086554 +PA162391017 3142 HGNC:4978 ENSG00000136630 H2.0 like homeobox HLX H2.0-like homeobox HB24, HLX1 Yes No Ensembl:ENSG00000136630, GeneCard:HLX, HGNC:HGNC:4978, HumanCyc Gene:HS06188, ModBase:Q14774, NCBI Gene:3142, OMIM:142995, RefSeq DNA:NT_167186, RefSeq Protein:NP_068777, RefSeq RNA:NM_021958, UniProtKB:Q14774 No chr1 221052743 221058401 220879401 220885059 +PA29314 81502 HGNC:16435 ENSG00000101294 histocompatibility minor 13 HM13 histocompatibility (minor) 13, intramembrane protease, presenilin-like protein 3, signal peptide peptidase beta, signal peptide peptidase like 1 H13, IMP1, IMPAS, PSENL3, PSL3, SPP, SPPL1, dJ324O17.1 Yes No Comparative Toxicogenomics Database:81502, Ensembl:ENSG00000101294, GenAtlas:HM13, GeneCard:HM13, HGNC:HGNC:16435, HumanCyc Gene:HS02234, ModBase:Q95H87, NCBI Gene:81502, OMIM:607106, RefSeq DNA:NT_011362, RefSeq Protein:NP_110416, RefSeq Protein:NP_848695, RefSeq Protein:NP_848696, RefSeq Protein:NP_848697, RefSeq RNA:NM_030789, RefSeq RNA:NM_178580, RefSeq RNA:NM_178581, RefSeq RNA:NM_178582, UCSC Genome Browser:NM_030789, UniProtKB:Q15K36, UniProtKB:Q8TCT9 No chr20 30102213 30158178 31514410 31569567 +PA143485490 79618 HGNC:26137 ENSG00000147421 homeobox containing 1 HMBOX1 homeobox telomere-binding protein 1 FLJ21616, HNF1LA, HOT1, PBHNF Yes No Comparative Toxicogenomics Database:79618, Ensembl:ENSG00000147421, GeneCard:HMBOX1, HGNC:HGNC:26137, HumanCyc Gene:HS07430, ModBase:Q6NT76, NCBI Gene:79618, RefSeq DNA:NT_167187, RefSeq Protein:NP_001129198, RefSeq Protein:NP_078843, RefSeq RNA:NM_001135726, RefSeq RNA:NM_024567, UniProtKB:Q6NT76 No chr8 28747911 28922456 28890370 29064939 +PA29317 3145 HGNC:4982 ENSG00000256269 hydroxymethylbilane synthase HMBS PBGD, PORC, UPS Yes No Comparative Toxicogenomics Database:3145, Ensembl:ENSG00000256269, GenAtlas:HMBS, GeneCard:HMBS, HGNC:HGNC:4982, HumanCyc Gene:HS07607, ModBase:P08397, NCBI Gene:3145, OMIM:176000, OMIM:609806, RefSeq DNA:NG_008093, RefSeq DNA:NT_033899, RefSeq Protein:NP_000181, RefSeq Protein:NP_001019553, RefSeq RNA:NM_000190, RefSeq RNA:NM_001024382, UCSC Genome Browser:NM_000190, UniProtKB:P08397 No chr11 118955587 118964259 119084871 119093549 +PA142672398 56941 HGNC:24446 ENSG00000183624 5-hydroxymethylcytosine binding, ES cell specific HMCES """5-hydroxymethylcytosine (hmC) binding, ES cell-specific"", ""SOS response associated peptidase domain containing 1"", ""chromosome 3 open reading frame 37"", ""embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein""" C3orf37, DC12, SRAPD1 Yes No Ensembl:ENSG00000183624, GeneCard:C3orf37, HGNC:HGNC:24446, ModBase:Q96FZ2, NCBI Gene:56941, RefSeq DNA:NT_005612, RefSeq Protein:NP_001006109, RefSeq Protein:NP_064572, RefSeq RNA:NM_001006109, RefSeq RNA:NM_020187, UniProtKB:Q96FZ2 No chr3 128997680 129025029 129278806 129305293 +PA142671679 83872 HGNC:19194 ENSG00000143341 hemicentin 1 HMCN1 fibulin 6 ARMD1, FBLN6, FIBL-6, FIBL6 Yes No Comparative Toxicogenomics Database:83872, Ensembl:ENSG00000143341, GenAtlas:HMCN1, GeneCard:HMCN1, HGNC:HGNC:19194, ModBase:Q96RW7, NCBI Gene:83872, OMIM:603075, OMIM:608548, RefSeq DNA:NG_011841, RefSeq DNA:NT_004487, RefSeq Protein:NP_114141, RefSeq RNA:NM_031935, UniProtKB:Q96RW7 No chr1 185703683 186160085 185734526 186190953 +PA142671680 256158 HGNC:21293 ENSG00000148357 hemicentin 2 HMCN2 DKFZp434P0216, FLJ23816 Yes No Comparative Toxicogenomics Database:256158, Ensembl:ENSG00000148357, GeneCard:HMCN2, HGNC:HGNC:21293, NCBI Gene:256158, RefSeq DNA:NT_035014, RefSeq Protein:XP_001715206, RefSeq Protein:XP_001726994, RefSeq Protein:XP_002347119, RefSeq RNA:XM_001715154, RefSeq RNA:XM_001726942, RefSeq RNA:XM_002347078, UniProtKB:Q8NDA2 No chr9 133223389 133309510 130265742 130434123 +PA29331 10363 HGNC:5001 ENSG00000140382 high mobility group 20A HMG20A HMG box domain containing 1 FLJ10739, HMGX1, HMGXB1 Yes No Comparative Toxicogenomics Database:10363, Ensembl:ENSG00000140382, GenAtlas:HMG20A, GeneCard:HMG20A, HGNC:HGNC:5001, HumanCyc Gene:HS06709, ModBase:Q9NP66, NCBI Gene:10363, OMIM:605534, RefSeq DNA:NT_010194, RefSeq Protein:NP_060670, RefSeq RNA:NM_018200, UCSC Genome Browser:NM_018200, UniProtKB:Q9NP66 No chr15 77713018 77777945 77420651 77519899 +PA29332 10362 HGNC:5002 ENSG00000064961 high mobility group 20B HMG20B HMG box domain containing 2 BRAF25, BRAF35, HMGX2, HMGXB2, SMARCE1r, SOXL Yes No Comparative Toxicogenomics Database:10362, Ensembl:ENSG00000064961, GenAtlas:HMG20B, GeneCard:HMG20B, HGNC:HGNC:5002, HumanCyc Gene:HS00822, ModBase:Q9P0W2, NCBI Gene:10362, OMIM:605535, RefSeq DNA:NT_011255, RefSeq Protein:NP_006330, RefSeq RNA:NM_006339, UCSC Genome Browser:NM_006339, UniProtKB:Q9P0W2 No chr19 3572936 3579081 3572938 3579083 +PA35094 3159 HGNC:5010 ENSG00000137309 high mobility group AT-hook 1 HMGA1 HMGIY Yes No Comparative Toxicogenomics Database:3159, Ensembl:ENSG00000137309, GenAtlas:HMGA1, GeneCard:HMGA1, HGNC:HGNC:5010, HumanCyc Gene:HS06306, ModBase:P17096, NCBI Gene:3159, OMIM:600701, RefSeq DNA:NT_007592, RefSeq Protein:NP_002122, RefSeq Protein:NP_665906, RefSeq Protein:NP_665908, RefSeq Protein:NP_665909, RefSeq Protein:NP_665910, RefSeq Protein:NP_665912, RefSeq RNA:NM_002131, RefSeq RNA:NM_145899, RefSeq RNA:NM_145901, RefSeq RNA:NM_145902, RefSeq RNA:NM_145903, RefSeq RNA:NM_145905, UCSC Genome Browser:NM_002131, UniProtKB:P17096, UniProtKB:Q5T6U8 No chr6 34204577 34214008 34236800 34246231 +PA134981802 203477 HGNC:13321 ENSG00000236683 high mobility group AT-hook 1 pseudogene 1 HMGA1P1 HMGIYL1 Yes No Ensembl:ENSG00000236683, GeneCard:HMGA1P1, HGNC:HGNC:13321, NCBI Gene:203477, RefSeq DNA:NG_002324, RefSeq DNA:NT_167197 No chrX 26766041 26767828 26747924 26749711 +PA134973510 171559 HGNC:13322 ENSG00000248641 high mobility group AT-hook 1 pseudogene 2 HMGA1P2 HMGIYL2 Yes No Ensembl:ENSG00000248641, GeneCard:HMGA1P2, HGNC:HGNC:13322, NCBI Gene:171559, RefSeq DNA:NG_001569, RefSeq DNA:NT_022778 No chr4 73964458 73966223 73098741 73100506 +PA134897348 144712 HGNC:13323 ENSG00000258011 high mobility group AT-hook 1 pseudogene 3 HMGA1P3 HMGIYL3 Yes No Ensembl:ENSG00000258011, GeneCard:HMGA1P3, HGNC:HGNC:13323, NCBI Gene:144712, RefSeq DNA:NG_002323, RefSeq DNA:NT_009775 No chr12 110866403 110868198 110428598 110430393 +PA134870086 387063 HGNC:19120 ENSG00000233313 high mobility group AT-hook 1 pseudogene 5 HMGA1P5 Yes No Ensembl:ENSG00000233313, GeneCard:HMGA1P5, HGNC:HGNC:19120, NCBI Gene:387063, RefSeq DNA:NG_008009, RefSeq DNA:NT_030059 No chr10 77034894 77036294 75275136 75276536 +PA134903344 100130029 HGNC:19121 ENSG00000233440 high mobility group AT-hook 1 pseudogene 6 HMGA1P6 Yes No Ensembl:ENSG00000233440, GeneCard:HMGA1L6, HGNC:HGNC:19121, NCBI Gene:100130029 No chr13 23708307 23710054 23134168 23135915 +PA134964436 387065 HGNC:19122 ENSG00000216753 high mobility group AT-hook 1 pseudogene 7 HMGA1P7 Yes No Ensembl:ENSG00000216753, GeneCard:HMGA1P7, HGNC:HGNC:19122, NCBI Gene:387065, RefSeq RNA:NR_037938 No chr6 134435100 134438818 134113962 134117680 +PA35093 8091 HGNC:5009 ENSG00000149948 high mobility group AT-hook 2 HMGA2 BABL, HMGIC, LIPO Yes No Comparative Toxicogenomics Database:8091, Ensembl:ENSG00000149948, GenAtlas:HMGA2, GeneCard:HMGA2, HGNC:HGNC:5009, HumanCyc Gene:HS07651, ModBase:P52926, NCBI Gene:8091, OMIM:151900, OMIM:600698, OMIM:611547, RefSeq DNA:NG_016296, RefSeq DNA:NT_029419, RefSeq Protein:NP_003474, RefSeq Protein:NP_003475, RefSeq RNA:NM_003483, RefSeq RNA:NM_003484, UCSC Genome Browser:NM_003483, UniProtKB:P52926, UniProtKB:Q1M182 No chr12 66218240 66360071 65824460 65966291 +PA188 3146 HGNC:4983 ENSG00000189403 high mobility group box 1 HMGB1 Amphoterin, Sulfoglucuronyl carbohydrate binding protein, high mobility group box 1, high mobility group protein 1 DKFZp686A04236, HMG1, HMG3, SBP-1 Yes Yes Comparative Toxicogenomics Database:3146, Ensembl:ENSG00000189403, GeneCard:HMGB1, HGNC:HGNC:4983, HumanCyc Gene:HS05715, ModBase:P09429, NCBI Gene:3146, OMIM:163905, RefSeq DNA:NT_024524, RefSeq Protein:NP_002119, RefSeq RNA:NM_002128, UCSC Genome Browser:NM_002128, UniProtKB:P09429 No chr13 31032877 31191942 30457916 30617597 +PA164720622 10357 HGNC:4993 ENSG00000124097 high mobility group box 1 pseudogene 1 HMGB1P1 HMG1L7 Yes No Ensembl:ENSG00000124097, GeneCard:HMGB1P1, HGNC:HGNC:4993, NCBI Gene:10357, RefSeq DNA:NG_016433, RefSeq DNA:NT_011362, RefSeq Protein:NP_001008735, RefSeq RNA:NM_001008735 No chr20 56062997 56064186 57487941 57489130 +PA134984208 319130 HGNC:20014 ENSG00000180189 high mobility group box 1 pseudogene 14 HMGB1P14 Yes No Ensembl:ENSG00000180189, HGNC:HGNC:20014, NCBI Gene:319130, RefSeq DNA:NG_002508, RefSeq DNA:NT_026437 No chr14 58751427 58752551 58284709 58285833 +PA29326 10356 HGNC:4995 ENSG00000250011 high mobility group box 1 pseudogene 3 HMGB1P3 Yes No Ensembl:ENSG00000250011, GenAtlas:HMG1L3, GeneCard:HMGB1P3, HGNC:HGNC:4995, NCBI Gene:10356, RefSeq DNA:NG_000883, RefSeq DNA:NT_005403 No chr2 231379576 231380916 230514924 230516086 +PA29327 10355 HGNC:4996 ENSG00000214821 high mobility group box 1 pseudogene 4 HMGB1P4 Yes No Ensembl:ENSG00000214821, GenAtlas:HMG1L4, GeneCard:HMGB1P4, HGNC:HGNC:4996, NCBI Gene:10355, RefSeq DNA:NG_004767, RefSeq DNA:NT_005403 No chr2 171456651 171458894 170600138 170602384 +PA29328 10354 HGNC:4997 ENSG00000132967 high mobility group box 1 pseudogene 5 HMGB1P5 HMGB1P2 Yes No Ensembl:ENSG00000132967, GenAtlas:HMG1L5, GeneCard:HMGB1P5, HGNC:HGNC:4997, NCBI Gene:10354, RefSeq DNA:NG_000897, RefSeq DNA:NT_022517 No chr3 22423161 22424357 22381721 22382915 +PA143485491 692147 HGNC:13319 ENSG00000259699 high mobility group box 1 pseudogene 8 HMGB1P8 Yes No Ensembl:ENSG00000259699, HGNC:HGNC:13319, NCBI Gene:692147, RefSeq DNA:NG_005579 No chr15 89678298 89679906 89135081 89136674 +PA143485492 654503 HGNC:13320 ENSG00000224159 high mobility group box 1 pseudogene 9 HMGB1P9 Yes No Ensembl:ENSG00000224159, HGNC:HGNC:13320, NCBI Gene:654503, RefSeq DNA:NG_005481 No chr2 219064999 219066573 218200276 218201845 +PA35091 3148 HGNC:5000 ENSG00000164104 high mobility group box 2 HMGB2 HMG2 Yes Yes Comparative Toxicogenomics Database:3148, Ensembl:ENSG00000164104, GenAtlas:HMGB2, GeneCard:HMGB2, HGNC:HGNC:5000, HumanCyc Gene:HS09012, ModBase:P26583, NCBI Gene:3148, OMIM:163906, RefSeq DNA:NT_016354, RefSeq Protein:NP_001124160, RefSeq Protein:NP_001124161, RefSeq Protein:NP_002120, RefSeq RNA:NM_001130688, RefSeq RNA:NM_001130689, RefSeq RNA:NM_002129, UCSC Genome Browser:NM_002129, UniProtKB:P26583 No chr4 174252527 174255595 173331376 173334444 +PA35092 3149 HGNC:5004 ENSG00000029993 high mobility group box 3 HMGB3 non-histone chromosomal protein HMG2A, HMG4, MGC90319 Yes No Comparative Toxicogenomics Database:3149, Ensembl:ENSG00000029993, GenAtlas:HMGB3, GeneCard:HMGB3, HGNC:HGNC:5004, HumanCyc Gene:HS00474, ModBase:O15347, NCBI Gene:3149, OMIM:300193, RefSeq DNA:NT_167198, RefSeq Protein:NP_005333, RefSeq RNA:NM_005342, UCSC Genome Browser:NM_005342, UniProtKB:O15347 No chrX 150149056 150159248 150980508 150990775 +PA29334 128872 HGNC:16240 ENSG00000225336 high mobility group box 3 pseudogene 1 HMGB3P1 dJ18C9.3 Yes No Ensembl:ENSG00000225336, GenAtlas:HMG4L, GeneCard:HMGB3P1, HGNC:HGNC:16240, NCBI Gene:128872, RefSeq RNA:NR_002165, UCSC Genome Browser:NM_178467 No chr20 33421378 33422265 34833575 34834462 +PA29335 128879 HGNC:16574 ENSG00000231470 high mobility group box 3 pseudogene 2 HMGB3P2 dJ550H1.1 Yes No Ensembl:ENSG00000231470, GenAtlas:HMG4L2, GeneCard:HMGB3P2, HGNC:HGNC:16574, NCBI Gene:128879, RefSeq DNA:NG_000979, RefSeq DNA:NT_028392 No chr20 34663943 34664523 36076000 36076754 +PA142671677 127540 HGNC:24954 ENSG00000176256 high mobility group box 4 HMGB4 FLJ40388 Yes No Ensembl:ENSG00000176256, GeneCard:HMGB4, HGNC:HGNC:24954, HumanCyc Gene:HS11027, ModBase:Q8WW32, NCBI Gene:127540, RefSeq DNA:NT_032977, RefSeq Protein:NP_001008728, RefSeq Protein:NP_660206, RefSeq RNA:NM_001008728, RefSeq RNA:NM_145205, RefSeq RNA:NR_033264 No chr1 34326076 34330392 33860475 33864791 +PA29336 3155 HGNC:5005 ENSG00000117305 3-hydroxy-3-methylglutaryl-CoA lyase HMGCL """3-hydroxymethyl-3-methylglutaryl-CoA lyase"", ""HMG-CoA lyase"", ""Hydroxymethylglutaryl-CoA lyase, mitochondrial"", ""hydroxymethylglutaricaciduria"", ""hydroxymethylglutaryl-CoA lyase""" HL, HMGCL1 Yes No Comparative Toxicogenomics Database:3155, Ensembl:ENSG00000117305, GenAtlas:HMGCL, GeneCard:HMGCL, HGNC:HGNC:5005, HumanCyc Gene:HS04116, ModBase:P35914, NCBI Gene:3155, OMIM:246450, RefSeq DNA:NG_013061, RefSeq DNA:NT_004610, RefSeq Protein:NP_000182, RefSeq Protein:NP_001159531, RefSeq RNA:NM_000191, RefSeq RNA:NM_001166059, UCSC Genome Browser:NM_000191, UniProtKB:B4DUP4, UniProtKB:P35914, UniProtKB:Q6IBC0 No chr1 24128367 24165110 23801877 23825459 +PA134989971 54511 HGNC:21359 ENSG00000146151 3-hydroxy-3-methylglutaryl-CoA lyase like 1 HMGCLL1 """3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic"", ""3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1"", ""3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1"", ""endoplasmic reticulum and cytosol HMG-CoA lyase""" DKFZP434G1411, bA418P12.1, er-cHL Yes No Ensembl:ENSG00000146151, GeneCard:HMGCLL1, HGNC:HGNC:21359, ModBase:Q8TB92, NCBI Gene:54511, RefSeq DNA:NT_007592, RefSeq Protein:NP_001035865, RefSeq Protein:NP_061909, RefSeq RNA:NM_001042406, RefSeq RNA:NM_019036, UniProtKB:O95896, UniProtKB:Q8TB92, UniProtKB:Q9NT06 No chr6 55299171 55444012 55434373 55579214 +PA189 3156 HGNC:5006 ENSG00000113161 3-hydroxy-3-methylglutaryl-CoA reductase HMGCR 3-hydroxy-3-methylglutaryl CoA reductase (NADPH), hydroxymethylglutaryl-CoA reductase Yes Yes Comparative Toxicogenomics Database:3156, Ensembl:ENSG00000113161, GenAtlas:HMGCR, GeneCard:HMGCR, HGNC:HGNC:5006, HumanCyc Gene:HS03652, ModBase:P04035, NCBI Gene:3156, OMIM:142910, RefSeq DNA:NG_011449, RefSeq DNA:NT_006713, RefSeq Protein:NP_000850, RefSeq Protein:NP_001124468, RefSeq RNA:NM_000859, RefSeq RNA:NM_001130996, UCSC Genome Browser:NM_000859, UniProtKB:P04035 Yes chr5 74632159 74657926 75336334 75362101 +PA29337 3157 HGNC:5007 ENSG00000112972 3-hydroxy-3-methylglutaryl-CoA synthase 1 HMGCS1 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase, 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) HMGCS Yes No Comparative Toxicogenomics Database:3157, Ensembl:ENSG00000112972, GenAtlas:HMGCS1, GeneCard:HMGCS1, HGNC:HGNC:5007, HumanCyc Gene:HS03634, ModBase:Q01581, NCBI Gene:3157, OMIM:142940, RefSeq DNA:NT_006576, RefSeq Protein:NP_001091742, RefSeq Protein:NP_002121, RefSeq RNA:NM_001098272, RefSeq RNA:NM_002130, UCSC Genome Browser:NM_002130, UniProtKB:Q01581, UniProtKB:Q5XJ04 No chr5 43287572 43313614 43287470 43313512 +PA29338 3158 HGNC:5008 ENSG00000134240 3-hydroxy-3-methylglutaryl-CoA synthase 2 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) Yes Yes Comparative Toxicogenomics Database:3158, Ensembl:ENSG00000134240, GenAtlas:HMGCS2, GeneCard:HMGCS2, HGNC:HGNC:5008, HumanCyc Gene:HS05836, ModBase:P54868, NCBI Gene:3158, OMIM:600234, OMIM:605911, RefSeq DNA:NG_013348, RefSeq DNA:NT_032977, RefSeq Protein:NP_001159579, RefSeq Protein:NP_005509, RefSeq RNA:NM_001166107, RefSeq RNA:NM_005518, UCSC Genome Browser:NM_005518, UniProtKB:P54868 No chr1 120290619 120311555 119747996 119769125 +PA35088 3150 HGNC:4984 ENSG00000205581 high mobility group nucleosome binding domain 1 HMGN1 high-mobility group nucleosome binding 1, nonhistone chromosomal protein HMG-14 FLJ27265, FLJ31471, HMG14, MGC104230, MGC117425 Yes No Comparative Toxicogenomics Database:3150, Ensembl:ENSG00000205581, GenAtlas:HMGN1, GeneCard:HMGN1, HGNC:HGNC:4984, ModBase:P05114, NCBI Gene:3150, OMIM:163920, RefSeq DNA:NT_011512, RefSeq Protein:NP_004956, RefSeq RNA:NM_004965, UCSC Genome Browser:NM_004965, UniProtKB:P05114, UniProtKB:Q6NSG7 No chr21 40714241 40721047 39342315 39349121 +PA134936829 319131 HGNC:20015 ENSG00000259318 high mobility group nucleosome binding domain 1 pseudogene 1 HMGN1P1 Yes No Ensembl:ENSG00000259318, HGNC:HGNC:20015, NCBI Gene:319131, RefSeq DNA:NG_002509, RefSeq DNA:NT_026437 No chr14 55861033 55862045 55394315 55395327 +PA29318 54048 HGNC:4985 ENSG00000229046 high mobility group nucleosome binding domain 1 pseudogene 2 HMGN1P2 Yes No Ensembl:ENSG00000229046, GenAtlas:HMG14P, GeneCard:HMGN1P2, HGNC:HGNC:4985, NCBI Gene:54048, RefSeq DNA:NG_000921, RefSeq DNA:NT_011512 No chr21 33078921 33079496 31706608 31707183 +PA35089 3151 HGNC:4986 ENSG00000198830 high mobility group nucleosomal binding domain 2 HMGN2 HMG17 Yes No Comparative Toxicogenomics Database:3151, Ensembl:ENSG00000198830, GenAtlas:HMGN2, GeneCard:HMGN2, HGNC:HGNC:4986, ModBase:P05204, NCBI Gene:3151, OMIM:163910, RefSeq DNA:NT_004610, RefSeq Protein:NP_005508, RefSeq RNA:NM_005517, UCSC Genome Browser:NM_005517, UniProtKB:P05204 No chr1 26798902 26803133 26472411 26476642 +PA134915903 319132 HGNC:19930 high mobility group nucleosomal binding domain 2 pseudogene 1 HMGN2P1 Yes No HGNC:HGNC:19930, NCBI Gene:319132, RefSeq DNA:NG_002510, RefSeq DNA:NT_026437 No chr14 23732310 23733000 23263101 23263791 +PA29320 23606 HGNC:4988 ENSG00000231261 high mobility group nucleosomal binding domain 2 pseudogene10 HMGN2P10 bK216E10 Yes No Ensembl:ENSG00000231261, GenAtlas:HMG17L2, GeneCard:HMGN2P10, HGNC:HGNC:4988, NCBI Gene:23606, RefSeq DNA:NG_000892, RefSeq DNA:NT_011520 No chr22 42105227 42105491 41709223 41709487 +PA29321 3152 HGNC:4990 ENSG00000232605 high mobility group nucleosomal binding domain 2 pseudogene 11 HMGN2P11 28H Yes No Ensembl:ENSG00000232605, GenAtlas:HMG17P1, GeneCard:HMGN2P11, HGNC:HGNC:4990, NCBI Gene:3152, RefSeq DNA:NG_001141, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595 No chr7 84505800 84507140 84876484 84877824 +PA29322 3153 HGNC:4991 high mobility group nucleosomal binding domain 2 pseudogene 12 HMGN2P12 60H Yes No GenAtlas:HMG17P2, GeneCard:HMGN2P12, HGNC:HGNC:4991, NCBI Gene:3153, RefSeq DNA:NG_001142 No chr6 +PA134914019 728234 HGNC:31330 ENSG00000231376 high mobility group nucleosomal binding domain 2 pseudogene 16 HMGN2P16 Em:AL513423.2 Yes No Ensembl:ENSG00000231376, GeneCard:HMGN2P16, HGNC:HGNC:31330, NCBI Gene:728234, RefSeq DNA:NG_005991, RefSeq DNA:NT_008413 No chr9 15588353 15588613 15588355 15588615 +PA134987116 317726 HGNC:20016 ENSG00000258452 high mobility group nucleosomal binding domain 2 pseudogene 2 HMGN2P2 Yes No Ensembl:ENSG00000258452, HGNC:HGNC:20016, NCBI Gene:317726, RefSeq DNA:NG_002460, RefSeq DNA:NT_026437 No chr14 81288773 81289950 80822429 80823606 +PA134909825 283651 HGNC:26817 ENSG00000179362 high mobility group nucleosomal binding domain 2 pseudogene 46 HMGN2P46 D-PCa-2, FLJ39426 Yes No Ensembl:ENSG00000179362, GeneCard:HMGN2P46, HGNC:HGNC:26817, HumanCyc Gene:HS17266, ModBase:Q86SG4, NCBI Gene:283651, OMIM:611314, RefSeq DNA:NT_010194, RefSeq RNA:NR_022014 No chr15 45803334 45848928 45511136 45556730 +PA29319 23605 HGNC:4987 ENSG00000180150 high mobility group nucleosomal binding domain 2 pseudogene 9 HMGN2P9 dJ388M5.2 Yes No Ensembl:ENSG00000180150, GenAtlas:HMG17L1, GeneCard:HMGN2P9, HGNC:HGNC:4987, NCBI Gene:23605, RefSeq DNA:NG_002646, RefSeq DNA:NT_011520, RefSeq DNA:NT_011521, UCSC Genome Browser:NM_021024 No chr22 44197989 44199448 43802109 43803568 +PA36990 9324 HGNC:12312 ENSG00000118418 high mobility group nucleosomal binding domain 3 HMGN3 TRIP7 Yes No Comparative Toxicogenomics Database:9324, Ensembl:ENSG00000118418, GenAtlas:HMGN3, GeneCard:HMGN3, HGNC:HGNC:12312, HumanCyc Gene:HS04218, ModBase:Q15651, NCBI Gene:9324, OMIM:604502, RefSeq DNA:NT_007299, RefSeq Protein:NP_001188291, RefSeq Protein:NP_001188292, RefSeq Protein:NP_004233, RefSeq Protein:NP_620058, RefSeq RNA:NM_001201362, RefSeq RNA:NM_001201363, RefSeq RNA:NM_004242, RefSeq RNA:NM_138730, UCSC Genome Browser:NM_004242, UniProtKB:Q15651 No chr6 79910962 79944455 79201245 79234738 +PA35090 10473 HGNC:4989 ENSG00000182952 high mobility group nucleosomal binding domain 4 HMGN4 HMG17L3, NHC Yes No Ensembl:ENSG00000182952, GenAtlas:HMGN4, GeneCard:HMGN4, HGNC:HGNC:4989, ModBase:O00479, NCBI Gene:10473, RefSeq DNA:NT_007592, RefSeq Protein:NP_006344, RefSeq RNA:NM_006353, UCSC Genome Browser:NM_006353, UniProtKB:O00479 No chr6 26538572 26547165 26538344 26546937 +PA31789 79366 HGNC:8013 ENSG00000198157 high mobility group nucleosome binding domain 5 HMGN5 NSBP1 Yes No Ensembl:ENSG00000198157, GenAtlas:NSBP1, GeneCard:HMGN5, GeneCard:NSBP1, HGNC:HGNC:8013, ModBase:P82970, NCBI Gene:79366, OMIM:300385, RefSeq DNA:NG_013234, RefSeq DNA:NT_011651, RefSeq Protein:NP_110390, RefSeq RNA:NM_030763, UCSC Genome Browser:NM_030763, UniProtKB:P82970 No chrX 80369200 80457441 81113701 81201942 +PA164720627 22993 HGNC:28982 ENSG00000113716 HMG-box containing 3 HMGXB3 HMG box domain containing 3 HMGX3, KIAA0194, SMF Yes No Ensembl:ENSG00000113716, GeneCard:HMGXB3, HGNC:HGNC:28982, NCBI Gene:22993, RefSeq DNA:NG_021389, RefSeq DNA:NT_029289, RefSeq Protein:NP_055798, RefSeq RNA:NM_014983, UniProtKB:Q12766, UniProtKB:Q562E5 No chr5 149380169 149432706 150000606 150053143 +PA164720673 10042 HGNC:5003 ENSG00000100281 HMG-box containing 4 HMGXB4 HMG box domain containing 4 HMG2L1, P53N, THC211630 Yes No Ensembl:ENSG00000100281, GeneCard:HMGXB4, HGNC:HGNC:5003, HumanCyc Gene:HS02022, ModBase:Q9UGU5, NCBI Gene:10042, OMIM:604702, RefSeq DNA:NT_011520, RefSeq Protein:NP_001003681, RefSeq Protein:NP_005478, RefSeq Protein:NP_055065, RefSeq RNA:NM_001003681, RefSeq RNA:NM_005487, RefSeq RNA:NM_014250, RefSeq RNA:NR_027780, UniProtKB:Q7Z641, UniProtKB:Q9UGU5 No chr22 35653445 35691800 35257274 35295807 +PA147357973 57824 HGNC:29677 ENSG00000158497 histocompatibility minor HB-1 HMHB1 histocompatibility (minor) HB-1 HB-1, HB-1Y Yes No Ensembl:ENSG00000158497, GeneCard:HMHB1, HGNC:HGNC:29677, HumanCyc Gene:HS14718, NCBI Gene:57824, OMIM:609961, RefSeq DNA:NT_029289, RefSeq Protein:NP_067005, RefSeq RNA:NM_021182, UniProtKB:O97980 No chr5 143191726 143200284 143812161 143820719 +PA29340 3161 HGNC:5012 ENSG00000072571 hyaluronan mediated motility receptor HMMR hyaluronan-mediated motility receptor (RHAMM) CD168, RHAMM Yes Yes Comparative Toxicogenomics Database:3161, Ensembl:ENSG00000072571, GenAtlas:HMMR, GeneCard:HMMR, HGNC:HGNC:5012, HumanCyc Gene:HS01073, NCBI Gene:3161, OMIM:114480, OMIM:600936, RefSeq DNA:NG_023309, RefSeq DNA:NT_023133, RefSeq Protein:NP_001136028, RefSeq Protein:NP_001136029, RefSeq Protein:NP_036616, RefSeq Protein:NP_036617, RefSeq RNA:NM_001142556, RefSeq RNA:NM_001142557, RefSeq RNA:NM_012484, RefSeq RNA:NM_012485, UCSC Genome Browser:NM_012484, UniProtKB:O75330 No chr5 162887517 162918951 163460511 163491945 +PA29341 3162 HGNC:5013 ENSG00000100292 heme oxygenase 1 HMOX1 heme oxygenase (decycling) 1, heme oxygenase-1 HO-1, bK286B10 Yes Yes Comparative Toxicogenomics Database:3162, Ensembl:ENSG00000100292, GenAtlas:HMOX1, GeneCard:HMOX1, HGNC:HGNC:5013, HumanCyc Gene:HS02027, ModBase:P09601, NCBI Gene:3162, OMIM:141250, OMIM:606963, RefSeq DNA:NG_023030, RefSeq DNA:NT_011520, RefSeq Protein:NP_002124, RefSeq RNA:NM_002133, UCSC Genome Browser:NM_002133, UniProtKB:P09601, UniProtKB:Q6FH11 No chr22 35777060 35790207 35381067 35394214 +PA29342 3163 HGNC:5014 ENSG00000103415 heme oxygenase 2 HMOX2 heme oxygenase (decycling) 2 HO-2 Yes No Comparative Toxicogenomics Database:3163, Ensembl:ENSG00000103415, GenAtlas:HMOX2, GeneCard:HMOX2, HGNC:HGNC:5014, HumanCyc Gene:HS02501, ModBase:P30519, NCBI Gene:3163, OMIM:141251, RefSeq DNA:NT_010393, RefSeq Protein:NP_001120676, RefSeq Protein:NP_001120677, RefSeq Protein:NP_001120678, RefSeq Protein:NP_002125, RefSeq RNA:NM_001127204, RefSeq RNA:NM_001127205, RefSeq RNA:NM_001127206, RefSeq RNA:NM_002134, UCSC Genome Browser:NM_002134, UniProtKB:P30519 No chr16 4524719 4560348 4474697 4510347 +PA162391030 284293 HGNC:23037 ENSG00000221887 histocompatibility minor serpin domain containing HMSD histocompatibility (minor) serpin domain containing ACC-6, ACC6, C18orf53 Yes No Ensembl:ENSG00000221887, GeneCard:HMSD, HGNC:HGNC:23037, ModBase:A8MTL9, NCBI Gene:284293, OMIM:612086, RefSeq DNA:NT_025028, RefSeq Protein:NP_001116838, RefSeq RNA:NM_001123366, UniProtKB:A8MTL9 No chr18 61616588 61627646 63949259 63969329 +PA29344 3166 HGNC:5017 ENSG00000215612 H6 family homeobox 1 HMX1 Homeobox protein HMX1, NK5 homeobox 3 H6, NKX5-3 Yes No Comparative Toxicogenomics Database:3166, Ensembl:ENSG00000215612, GenAtlas:HMX1, GeneCard:HMX1, HGNC:HGNC:5017, ModBase:Q9NP08, NCBI Gene:3166, OMIM:142992, OMIM:612109, RefSeq DNA:NG_013062, RefSeq DNA:NT_006316, RefSeq Protein:NP_061815, RefSeq RNA:NM_018942, UCSC Genome Browser:NM_018942, UniProtKB:Q9NP08 No chr4 8847803 8873543 8846076 8871817 +PA29345 3167 HGNC:5018 ENSG00000188816 H6 family homeobox 2 HMX2 NKX5-2 Yes No Ensembl:ENSG00000188816, GenAtlas:HMX2, GeneCard:HMX2, HGNC:HGNC:5018, ModBase:A2RU54, NCBI Gene:3167, OMIM:600647, RefSeq DNA:NT_030059, RefSeq Protein:NP_005510, RefSeq RNA:NM_005519, UniProtKB:A2RU54 No chr10 124902006 124910188 123142421 123150673 +PA29346 340784 HGNC:5019 ENSG00000188620 H6 family homeobox 3 HMX3 NKX5-1 Yes No Ensembl:ENSG00000188620, GenAtlas:HMX3, GeneCard:HMX3, HGNC:HGNC:5019, ModBase:A6NHT5, NCBI Gene:340784, OMIM:613380, RefSeq DNA:NT_030059, RefSeq Protein:NP_001099044, RefSeq RNA:NM_001105574, UniProtKB:A6NHT5 No chr10 124895567 124897247 123136051 123137731 +PA36380 6927 HGNC:11621 ENSG00000135100 HNF1 homeobox A HNF1A HNF1, HNF1α, HNF1α, LFB1, MODY3, TCF1 Yes Yes Comparative Toxicogenomics Database:6927, Ensembl:ENSG00000135100, GenAtlas:TCF1, GeneCard:HNF1A, HGNC:HGNC:11621, HumanCyc Gene:HS05954, ModBase:P20823, NCBI Gene:6927, OMIM:125853, OMIM:142330, OMIM:142410, OMIM:144700, OMIM:222100, OMIM:600496, OMIM:612520, RefSeq DNA:NG_011731, RefSeq DNA:NT_009775, RefSeq Protein:NP_000536, RefSeq RNA:NM_000545, UCSC Genome Browser:NM_000545, UniProtKB:P20823 No chr12 121415861 121440315 120978515 121002512 +PA165513193 283460 HGNC:26785 ENSG00000241388 HNF1A antisense RNA 1 HNF1A-AS1 FLJ38690 Yes No Ensembl:ENSG00000241388, GeneCard:NCRNA00262, HGNC:HGNC:26785, NCBI Gene:283460, RefSeq DNA:NT_009775, RefSeq Protein:XP_001721101, RefSeq Protein:XP_001724219, RefSeq Protein:XP_001726650, RefSeq RNA:NR_024345, RefSeq RNA:XM_001721049, RefSeq RNA:XM_001724167, RefSeq RNA:XM_001726598 No chr12 121407641 121410095 120969838 120972292 +PA162391083 6928 HGNC:11630 ENSG00000275410 HNF1 homeobox B HNF1B hepatocyte nuclear factor 1 beta HNF1beta, HNF1β, HNF1β, LFB3, MODY5, TCF2, VHNF1 Yes Yes Ensembl:ENSG00000275410, GeneCard:HNF1B, HGNC:HGNC:11630, HumanCyc Gene:HS03148, ModBase:P35680, NCBI Gene:6928, OMIM:125853, OMIM:137920, OMIM:144700, OMIM:176807, OMIM:189907, OMIM:611955, RefSeq DNA:NG_013019, RefSeq DNA:NT_010783, RefSeq Protein:NP_000449, RefSeq Protein:NP_001159395, RefSeq RNA:NM_000458, RefSeq RNA:NM_001165923, UniProtKB:P35680, UniProtKB:Q6FHW6 No chr17 36046434 36105096 37686431 37745078 +PA29349 3172 HGNC:5024 ENSG00000101076 hepatocyte nuclear factor 4 alpha HNF4A hepatocyte nuclear factor 4, alpha HNF4, MODY, MODY1, NR2A1, TCF14 Yes Yes Comparative Toxicogenomics Database:3172, Ensembl:ENSG00000101076, GenAtlas:HNF4A, GeneCard:HNF4A, HGNC:HGNC:5024, HumanCyc Gene:HS02188, ModBase:Q92653, NCBI Gene:3172, OMIM:125850, OMIM:125853, OMIM:600281, OMIM:606391, RefSeq DNA:NG_009818, RefSeq DNA:NT_011362, RefSeq Protein:NP_000448, RefSeq Protein:NP_001025174, RefSeq Protein:NP_001025175, RefSeq Protein:NP_787110, RefSeq Protein:NP_849180, RefSeq Protein:NP_849181, RefSeq RNA:NM_000457, RefSeq RNA:NM_001030003, RefSeq RNA:NM_001030004, RefSeq RNA:NM_175914, RefSeq RNA:NM_178849, RefSeq RNA:NM_178850, UCSC Genome Browser:NM_000457, UniProtKB:P41235 No chr20 42984441 43061485 44355801 44432845 +PA29351 3174 HGNC:5026 ENSG00000164749 hepatocyte nuclear factor 4 gamma HNF4G hepatocyte nuclear factor 4, gamma NR2A2 Yes No Comparative Toxicogenomics Database:3174, Ensembl:ENSG00000164749, GenAtlas:HNF4G, GeneCard:HNF4G, HGNC:HGNC:5026, HumanCyc Gene:HS09129, ModBase:Q14541, NCBI Gene:3174, OMIM:605966, RefSeq DNA:NT_008183, RefSeq Protein:NP_004124, RefSeq RNA:NM_004133, UCSC Genome Browser:NM_004133, UniProtKB:Q14541 No chr8 76452203 76479069 75407567 75566834 +PA164720700 100130462 HGNC:35417 ENSG00000228611 hepatocyte nuclear factor 4, gamma pseudogene 1 HNF4GP1 Yes No Ensembl:ENSG00000228611, HGNC:HGNC:35417, NCBI Gene:100130462 No chr13 56570623 56574584 55996489 56000450 +PA190 3176 HGNC:5028 ENSG00000150540 histamine N-methyltransferase HNMT HMT Yes Yes Comparative Toxicogenomics Database:3176, Ensembl:ENSG00000150540, GenAtlas:HNMT, GeneCard:HNMT, HGNC:HGNC:5028, HumanCyc Gene:HS07674, ModBase:P50135, NCBI Gene:3176, OMIM:600807, OMIM:605238, RefSeq DNA:NG_012966, RefSeq DNA:NT_022135, RefSeq Protein:NP_001019245, RefSeq Protein:NP_001019246, RefSeq Protein:NP_008826, RefSeq RNA:NM_001024074, RefSeq RNA:NM_001024075, RefSeq RNA:NM_006895, UCSC Genome Browser:NM_006895, UniProtKB:P50135, UniProtKB:Q8IU56, UniProtKB:Q9BRW6 No chr2 138721808 138773934 137964068 138016364 +PA162391106 10949 HGNC:5030 ENSG00000177733 heterogeneous nuclear ribonucleoprotein A0 HNRNPA0 HNRPA0, hnRNPA0 Yes No Ensembl:ENSG00000177733, GeneCard:HNRNPA0, HGNC:HGNC:5030, HumanCyc Gene:HS11212, ModBase:Q13151, NCBI Gene:10949, OMIM:609409, RefSeq DNA:NT_034772, RefSeq Protein:NP_006796, RefSeq RNA:NM_006805, UniProtKB:Q13151 No chr5 137087073 137090039 137751384 137754350 +PA162391113 3178 HGNC:5031 ENSG00000135486 heterogeneous nuclear ribonucleoprotein A1 HNRNPA1 ALS20, HNRPA1, hnRNP-A1, hnRNPA1 Yes No Ensembl:ENSG00000135486, GeneCard:HNRNPA1, HGNC:HGNC:5031, HumanCyc Gene:HS06019, ModBase:P09651, NCBI Gene:3178, OMIM:164017, RefSeq DNA:NT_029419, RefSeq DNA:NT_079595, RefSeq Protein:NP_002127, RefSeq Protein:NP_112420, RefSeq RNA:NM_002136, RefSeq RNA:NM_031157, UniProtKB:P09651 No chr12 54674480 54680871 54280690 54287088 +PA164720701 144983 HGNC:27067 ENSG00000139675 heterogeneous nuclear ribonucleoprotein A1 like 2 HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1-like 2 LOC144983 Yes No Ensembl:ENSG00000139675, GeneCard:HNRNPA1L2, HGNC:HGNC:27067, NCBI Gene:144983, RefSeq DNA:NT_024524, RefSeq DNA:NT_079595, RefSeq Protein:NP_001011724, RefSeq Protein:NP_001011725, RefSeq RNA:NM_001011724, RefSeq RNA:NM_001011725, UniProtKB:Q32P51 No chr13 53173750 53217931 52617470 52643784 +PA166351918 642659 HGNC:48778 heterogeneous nuclear ribonucleoprotein A1 like 3 HNRNPA1L3 HNRNPA1P48 Yes No HGNC:HGNC:48778, NCBI Gene:642659 No 0 0 0 0 +PA29355 170524 HGNC:16567 ENSG00000226188 heterogeneous nuclear ribonucleoprotein A1 pseudogene 3 HNRNPA1P3 dJ447F3.1 Yes No Ensembl:ENSG00000226188, GenAtlas:HNRPA1P3, GeneCard:HNRNPA1P3, HGNC:HGNC:16567, NCBI Gene:170524, RefSeq DNA:NG_001041, RefSeq DNA:NT_011362 No chr20 44374198 44374859 45745374 45746204 +PA142671675 389674 HGNC:32234 ENSG00000206228 heterogeneous nuclear ribonucleoprotein A1 pseudogene 4 HNRNPA1P4 Yes No Ensembl:ENSG00000206228, HGNC:HGNC:32234, NCBI Gene:389674, RefSeq DNA:NT_008183, RefSeq Protein:XP_372050, RefSeq Protein:XP_944980, RefSeq RNA:XM_372050, RefSeq RNA:XM_939887 No chr8 83203143 83204626 82290908 82292391 +PA134972731 388275 HGNC:31015 ENSG00000215492 heterogeneous nuclear ribonucleoprotein A1 pseudogene 7 HNRNPA1P7 Yes No Ensembl:ENSG00000215492, GeneCard:HNRNPA1P7, HGNC:HGNC:31015, NCBI Gene:388275, RefSeq DNA:NG_005529, RefSeq DNA:NT_010966 No chr18 29991469 29993200 32411506 32413237 +PA162391140 3181 HGNC:5033 ENSG00000122566 heterogeneous nuclear ribonucleoprotein A2/B1 HNRNPA2B1 HNRNPA2, HNRNPB1, HNRPA2B1 Yes No Ensembl:ENSG00000122566, GeneCard:HNRNPA2B1, HGNC:HGNC:5033, HumanCyc Gene:HS04579, ModBase:P22626, NCBI Gene:3181, OMIM:600124, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002128, RefSeq Protein:NP_112533, RefSeq RNA:NM_002137, RefSeq RNA:NM_031243, UniProtKB:P22626 No chr7 26229547 26240413 26189927 26200793 +PA162391169 220988 HGNC:24941 ENSG00000170144 heterogeneous nuclear ribonucleoprotein A3 HNRNPA3 HNRPA3 Yes No Ensembl:ENSG00000170144, GeneCard:HNRNPA3, HGNC:HGNC:24941, ModBase:P51991, NCBI Gene:220988, OMIM:605372, RefSeq DNA:NT_005403, RefSeq Protein:NP_919223, RefSeq RNA:NM_194247, UniProtKB:P51991 No chr2 178076063 178088687 177212694 177223959 +PA134866784 10151 HGNC:13729 ENSG00000226790 heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 HNRNPA3P1 D10S102, FBRNP Yes No Ensembl:ENSG00000226790, HGNC:HGNC:13729, NCBI Gene:10151, RefSeq DNA:NT_033985, RefSeq RNA:NR_002726 No chr10 44282860 44285865 43787412 43790417 +PA29358 170526 HGNC:16605 ENSG00000227688 heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 HNRNPA3P2 dJ977B1.2 Yes No Ensembl:ENSG00000227688, GenAtlas:HNRPA3P2, GeneCard:HNRNPA3P2, HGNC:HGNC:16605, NCBI Gene:170526 No chr20 35248805 35249849 36620402 36621446 +PA162391196 3182 HGNC:5034 ENSG00000197451 heterogeneous nuclear ribonucleoprotein A/B HNRNPAB ABBP1, FLJ40338, HNRPAB Yes No Ensembl:ENSG00000197451, GeneCard:HNRNPAB, HGNC:HGNC:5034, NCBI Gene:3182, OMIM:602688, RefSeq DNA:NT_023133, RefSeq Protein:NP_004490, RefSeq Protein:NP_112556, RefSeq RNA:NM_004499, RefSeq RNA:NM_031266, UniProtKB:Q99729 No chr5 177631508 177638184 178204507 178211183 +PA162391217 3183 HGNC:5035 ENSG00000092199 heterogeneous nuclear ribonucleoprotein C HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) HNRPC, hnRNPC Yes No Ensembl:ENSG00000092199, GeneCard:HNRNPC, HGNC:HGNC:5035, HumanCyc Gene:HS01762, ModBase:Q96HM4, NCBI Gene:3183, OMIM:164020, RefSeq DNA:NT_026437, RefSeq Protein:NP_001070910, RefSeq Protein:NP_001070911, RefSeq Protein:NP_004491, RefSeq Protein:NP_112604, RefSeq RNA:NM_001077442, RefSeq RNA:NM_001077443, RefSeq RNA:NM_004500, RefSeq RNA:NM_031314, UniProtKB:P07910 No chr14 21677295 21737638 21209136 21269479 +PA162391240 343069 HGNC:29295 ENSG00000179172 heterogeneous nuclear ribonucleoprotein C like 1 HNRNPCL1 heterogeneous nuclear ribonucleoprotein C-like 1 HNRPCL1 Yes No Ensembl:ENSG00000179172, GeneCard:HNRNPCL1, HGNC:HGNC:29295, ModBase:O60812, NCBI Gene:343069, RefSeq DNA:NT_021937, RefSeq Protein:NP_001013653, RefSeq RNA:NM_001013631, UniProtKB:O60812 No chr1 12907261 12908578 12847377 12848756 +PA166123692 440563 HGNC:48813 ENSG00000275774 heterogeneous nuclear ribonucleoprotein C like 2 HNRNPCL2 heterogeneous nuclear ribonucleoprotein C-like 2 HNRNPCP5 Yes No Ensembl:ENSG00000275774, HGNC:HGNC:48813, NCBI Gene:440563 No +PA166123693 649330 HGNC:51235 ENSG00000277058 heterogeneous nuclear ribonucleoprotein C like 3 HNRNPCL3 heterogeneous nuclear ribonucleoprotein C-like 3 Yes No Ensembl:ENSG00000277058, HGNC:HGNC:51235, NCBI Gene:649330 No +PA166123694 101060301 HGNC:51333 ENSG00000179412 heterogeneous nuclear ribonucleoprotein C like 4 HNRNPCL4 heterogeneous nuclear ribonucleoprotein C-like 4 Yes No Ensembl:ENSG00000179412, HGNC:HGNC:51333, NCBI Gene:101060301 No +PA29361 3184 HGNC:5036 ENSG00000138668 heterogeneous nuclear ribonucleoprotein D HNRNPD """AU-rich RNA-binding factor 1"", ""Heterogeneous nuclear ribonucleoprotein D0"", ""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)""" AUF1, HNRPD Yes No Comparative Toxicogenomics Database:3184, Ensembl:ENSG00000138668, GenAtlas:HNRPD, GeneCard:HNRNPD, GeneCard:HNRPD, HGNC:HGNC:5036, HumanCyc Gene:HS06529, ModBase:Q9UCE8, NCBI Gene:3184, OMIM:601324, RefSeq DNA:NT_016354, RefSeq Protein:NP_001003810, RefSeq Protein:NP_002129, RefSeq Protein:NP_112737, RefSeq Protein:NP_112738, RefSeq RNA:NM_001003810, RefSeq RNA:NM_002138, RefSeq RNA:NM_031369, RefSeq RNA:NM_031370, UCSC Genome Browser:NM_002138, UniProtKB:Q14103 No chr4 83274467 83295149 82353314 82373996 +PA29362 9987 HGNC:5037 ENSG00000152795 heterogeneous nuclear ribonucleoprotein D like HNRNPDL heterogeneous nuclear ribonucleoprotein D-like HNRPDL, JKTBP, LGMD1G, laAUF1 Yes No Comparative Toxicogenomics Database:9987, Ensembl:ENSG00000152795, GenAtlas:HNRPDL, GeneCard:HNRPDL, HGNC:HGNC:5037, HumanCyc Gene:HS07854, ModBase:O14979, NCBI Gene:9987, OMIM:607137, RefSeq DNA:NT_016354, RefSeq Protein:NP_001193929, RefSeq Protein:NP_112740, RefSeq RNA:NM_001207000, RefSeq RNA:NM_031372, RefSeq RNA:NR_003249, UCSC Genome Browser:NM_005463, UniProtKB:O14979 No chr4 83343717 83351378 82422564 82430225 +PA162391271 3185 HGNC:5039 ENSG00000169813 heterogeneous nuclear ribonucleoprotein F HNRNPF HNRPF Yes No Ensembl:ENSG00000169813, GeneCard:HNRNPF, HGNC:HGNC:5039, HumanCyc Gene:HS10011, ModBase:P52597, NCBI Gene:3185, OMIM:601037, RefSeq DNA:NT_033985, RefSeq Protein:NP_001091674, RefSeq Protein:NP_001091675, RefSeq Protein:NP_001091676, RefSeq Protein:NP_001091677, RefSeq Protein:NP_001091678, RefSeq Protein:NP_004957, RefSeq RNA:NM_001098204, RefSeq RNA:NM_001098205, RefSeq RNA:NM_001098206, RefSeq RNA:NM_001098207, RefSeq RNA:NM_001098208, RefSeq RNA:NM_004966, UniProtKB:P52597 No chr10 43881065 43904696 43385617 43409248 +PA162391284 3187 HGNC:5041 ENSG00000169045 heterogeneous nuclear ribonucleoprotein H1 HNRNPH1 Heterogeneous nuclear ribonucleoprotein H, heterogeneous nuclear ribonucleoprotein H1 (H) HNRPH1, hnRNPH Yes No Ensembl:ENSG00000169045, GeneCard:HNRNPH1, HGNC:HGNC:5041, HumanCyc Gene:HS09872, ModBase:P31943, NCBI Gene:3187, OMIM:601035, RefSeq DNA:NT_023133, RefSeq Protein:NP_005511, RefSeq RNA:NM_005520, UniProtKB:P31943 No chr5 179041179 179050722 179614178 179634784 +PA162391316 3188 HGNC:5042 ENSG00000126945 heterogeneous nuclear ribonucleoprotein H2 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H') FTP3, HNRPH', HNRPH2, hnRNPH' Yes No Ensembl:ENSG00000126945, GeneCard:HNRNPH2, HGNC:HGNC:5042, HumanCyc Gene:HS05063, ModBase:P55795, NCBI Gene:3188, OMIM:300610, RefSeq DNA:NG_016327, RefSeq DNA:NT_011651, RefSeq Protein:NP_001027565, RefSeq Protein:NP_062543, RefSeq RNA:NM_001032393, RefSeq RNA:NM_019597, UniProtKB:P55795 No chrX 100663121 100669128 101408133 101414140 +PA162391325 3189 HGNC:5043 ENSG00000096746 heterogeneous nuclear ribonucleoprotein H3 HNRNPH3 heterogeneous nuclear ribonucleoprotein 2H9, heterogeneous nuclear ribonucleoprotein H3 (2H9) 2H9, HNRPH3 Yes No Ensembl:ENSG00000096746, GeneCard:HNRNPH3, HGNC:HGNC:5043, HumanCyc Gene:HS01871, ModBase:P31942, NCBI Gene:3189, OMIM:602324, RefSeq DNA:NT_030059, RefSeq Protein:NP_036339, RefSeq Protein:NP_067676, RefSeq RNA:NM_012207, RefSeq RNA:NM_021644, UniProtKB:P31942, UniProtKB:Q53F48 No chr10 70091768 70102953 68331174 68343196 +PA162391350 3190 HGNC:5044 ENSG00000165119 heterogeneous nuclear ribonucleoprotein K HNRNPK transformation upregulated nuclear protein CSBP, HNRPK, TUNP Yes No Ensembl:ENSG00000165119, GeneCard:HNRNPK, HGNC:HGNC:5044, HumanCyc Gene:HS09187, ModBase:P61978, NCBI Gene:3190, OMIM:600712, RefSeq DNA:NT_008470, RefSeq Protein:NP_002131, RefSeq Protein:NP_112552, RefSeq Protein:NP_112553, RefSeq RNA:NM_002140, RefSeq RNA:NM_031262, RefSeq RNA:NM_031263, UniProtKB:P61978, UniProtKB:Q6IBN1 No chr9 86582998 86595692 83968083 83980782 +PA162391389 3191 HGNC:5045 ENSG00000104824 heterogeneous nuclear ribonucleoprotein L HNRNPL HNRPL Yes No Ensembl:ENSG00000104824, GeneCard:HNRNPL, HGNC:HGNC:5045, HumanCyc Gene:HS02626, ModBase:P14866, NCBI Gene:3191, OMIM:603083, RefSeq DNA:NT_011109, RefSeq Protein:NP_001005335, RefSeq Protein:NP_001524, RefSeq RNA:NM_001005335, RefSeq RNA:NM_001533, UniProtKB:A6NIT8, UniProtKB:P14866, UniProtKB:Q6NTA2 No chr19 39327028 39342979 38836378 38852339 +PA134987080 92906 HGNC:25127 ENSG00000143889 heterogeneous nuclear ribonucleoprotein L like HNRNPLL heterogeneous nuclear ribonucleoprotein L-like HNRPLL Yes No Ensembl:ENSG00000143889, GeneCard:HNRPLL, HGNC:HGNC:25127, HumanCyc Gene:HS07124, ModBase:Q8WVV9, NCBI Gene:92906, OMIM:611208, RefSeq DNA:NT_022184, RefSeq Protein:NP_001136122, RefSeq Protein:NP_612403, RefSeq RNA:NM_001142650, RefSeq RNA:NM_138394, UniProtKB:A8K894, UniProtKB:Q8WVV9 No chr2 38789120 38830178 38563186 38603036 +PA29370 4670 HGNC:5046 ENSG00000099783 heterogeneous nuclear ribonucleoprotein M HNRNPM CEA receptor CEAR, HNRNPM4, HNRPM, HNRPM4, HTGR1, NAGR1 Yes No Ensembl:ENSG00000099783, GenAtlas:HNRPM, GeneCard:HNRNPM, GeneCard:HNRPM, HGNC:HGNC:5046, HumanCyc Gene:HS01906, NCBI Gene:4670, OMIM:160994, RefSeq DNA:NT_077812, RefSeq Protein:NP_005959, RefSeq Protein:NP_112480, RefSeq RNA:NM_005968, RefSeq RNA:NM_031203, UCSC Genome Browser:NM_005968, UniProtKB:P52272 No chr19 8509460 8554002 8444575 8489118 +PA162391459 10236 HGNC:5047 ENSG00000125944 heterogeneous nuclear ribonucleoprotein R HNRNPR HNRPR, hnRNP-R Yes No Ensembl:ENSG00000125944, GeneCard:HNRNPR, HGNC:HGNC:5047, HumanCyc Gene:HS04972, ModBase:O43390, NCBI Gene:10236, OMIM:607201, RefSeq DNA:NT_004610, RefSeq Protein:NP_001095867, RefSeq Protein:NP_001095868, RefSeq Protein:NP_001095869, RefSeq Protein:NP_005817, RefSeq RNA:NM_001102397, RefSeq RNA:NM_001102398, RefSeq RNA:NM_001102399, RefSeq RNA:NM_005826, UniProtKB:O43390, UniProtKB:Q0VGD6, UniProtKB:Q6MZS5 No chr1 23635953 23671143 23304688 23344650 +PA162391486 3192 HGNC:5048 ENSG00000153187 heterogeneous nuclear ribonucleoprotein U HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A), scaffold attachment factor A C1orf199, FLJ30202, FLJ37978, HNRNPU-AS1, HNRPU, NCRNA00201, SAF-A, hnRNPU Yes No Ensembl:ENSG00000153187, GeneCard:HNRNPU, HGNC:HGNC:5048, HumanCyc Gene:HS07888, NCBI Gene:3192, OMIM:602869, RefSeq DNA:NT_167186, RefSeq Protein:NP_004492, RefSeq Protein:NP_114032, RefSeq RNA:NM_004501, RefSeq RNA:NM_031844, UniProtKB:Q00839, UniProtKB:Q96BA7 No chr1 245013602 245027827 244842123 244864720 +PA162391519 11100 HGNC:17011 ENSG00000105323 heterogeneous nuclear ribonucleoprotein U like 1 HNRNPUL1 E1B 55kDa associated protein 5, heterogeneous nuclear ribonucleoprotein U-like 1 E1B-AP5, E1BAP5, FLJ12944, HNRPUL1 Yes No Ensembl:ENSG00000105323, GeneCard:HNRNPUL1, HGNC:HGNC:17011, HumanCyc Gene:HS02712, ModBase:Q9BUJ2, NCBI Gene:11100, OMIM:605800, RefSeq DNA:NT_011109, RefSeq Protein:NP_008971, RefSeq Protein:NP_653333, RefSeq RNA:NM_007040, RefSeq RNA:NM_144732, UniProtKB:Q9BUJ2 No chr19 41768391 41813811 41262476 41307783 +PA162391554 221092 HGNC:25451 ENSG00000214753 heterogeneous nuclear ribonucleoprotein U like 2 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U-like 2 DKFZp762N1910, HNRPUL2 Yes No Ensembl:ENSG00000214753, GeneCard:HNRNPUL2, HGNC:HGNC:25451, ModBase:Q1KMD3, NCBI Gene:221092, RefSeq DNA:NT_167190, RefSeq Protein:NP_001073027, RefSeq RNA:NM_001079559, UniProtKB:Q1KMD3 No chr11 62480097 62494857 62712625 62727385 +PA166351919 399949 HGNC:25061 HOATZ cilia and flagella associated protein HOATZ hypothetical gene supported by BC039505 C11orf88, FLJ46266 Yes No HGNC:HGNC:25061, NCBI Gene:399949 No 0 0 0 0 +PA165548441 112817 HGNC:25155 ENSG00000241935 4-hydroxy-2-oxoglutarate aldolase 1 HOGA1 N-acetylneuraminate pyruvate lyase 2 (putative), dihydrodipicolinate synthetase homolog 2 (E. coli) C10orf65, DHDPS2, DHDPSL, FLJ37472, NPL2 Yes No Ensembl:ENSG00000241935, GeneCard:DHDPSL, HGNC:HGNC:25155, HumanCyc Gene:HS14557, ModBase:Q86XE5, NCBI Gene:112817, RefSeq DNA:NT_030059, RefSeq Protein:NP_001128142, RefSeq Protein:NP_612422, RefSeq RNA:NM_001134670, RefSeq RNA:NM_138413, UniProtKB:Q86XE5 No chr10 99344102 99372559 97584345 97612802 +PA134972608 9456 HGNC:17512 ENSG00000152413 homer scaffold protein 1 HOMER1 homer homolog 1 (Drosophila) HOMER-1B, SYN47, Ves-1 Yes Yes Comparative Toxicogenomics Database:9456, Ensembl:ENSG00000152413, GeneCard:HOMER1, HGNC:HGNC:17512, HumanCyc Gene:HS07811, ModBase:Q86YM7, NCBI Gene:9456, OMIM:604798, RefSeq DNA:NT_006713, RefSeq Protein:NP_004263, RefSeq RNA:NM_004272, UniProtKB:Q5U5K4, UniProtKB:Q86YM7 No chr5 78669647 78809659 79373824 79514568 +PA134870500 9455 HGNC:17513 ENSG00000103942 homer scaffold protein 2 HOMER2 homer homolog 2 (Drosophila) CPD, Cupidin, DFNA68, HOMER-2, HOMER-2A, HOMER-2B, Vesl-2 Yes No Comparative Toxicogenomics Database:9455, Ensembl:ENSG00000103942, GeneCard:HOMER2, HGNC:HGNC:17513, HumanCyc Gene:HS02537, ModBase:Q9NSB8, NCBI Gene:9455, OMIM:604799, RefSeq DNA:NT_077661, RefSeq Protein:NP_004830, RefSeq Protein:NP_955362, RefSeq Protein:NP_955363, RefSeq Protein:NP_955364, RefSeq RNA:NM_004839, RefSeq RNA:NM_199330, RefSeq RNA:NM_199331, RefSeq RNA:NM_199332, UniProtKB:Q9NSB8 No chr15 83517729 83654905 82836946 82986176 +PA134994119 317768 HGNC:20336 ENSG00000228966 homer homolog 2 (Drosophila) pseudogene 1 HOMER2P1 Yes No Ensembl:ENSG00000228966, GeneCard:HOMER2P1, HGNC:HGNC:20336, NCBI Gene:317768 No chr14 106914865 106917231 106458942 106461306 +PA134864336 317769 HGNC:20334 ENSG00000238275 homer homolog 2 (Drosophila) pseudogene 2 HOMER2P2 Yes No Ensembl:ENSG00000238275, GeneCard:HOMER2P2, HGNC:HGNC:20334, NCBI Gene:317769 No chr14 106742587 106744487 106285995 106287892 +PA134988320 9454 HGNC:17514 ENSG00000051128 homer scaffold protein 3 HOMER3 homer homolog 3 (Drosophila) HOMER-3 Yes No Comparative Toxicogenomics Database:9454, Ensembl:ENSG00000051128, GeneCard:HOMER3, HGNC:HGNC:17514, HumanCyc Gene:HS00641, ModBase:Q9NSC5, NCBI Gene:9454, OMIM:604800, RefSeq DNA:NT_011295, RefSeq Protein:NP_001139193, RefSeq Protein:NP_001139194, RefSeq Protein:NP_001139196, RefSeq Protein:NP_004829, RefSeq RNA:NM_001145721, RefSeq RNA:NM_001145722, RefSeq RNA:NM_001145724, RefSeq RNA:NM_004838, RefSeq RNA:NR_027297, UniProtKB:B2RA10, UniProtKB:Q9NSC1, UniProtKB:Q9NSC5 No chr19 19040010 19052041 18929201 18941258 +PA162391555 57594 HGNC:20164 ENSG00000215271 homeobox and leucine zipper encoding HOMEZ KIAA1443 Yes No Ensembl:ENSG00000215271, GeneCard:HOMEZ, HGNC:HGNC:20164, ModBase:Q8IX15, NCBI Gene:57594, OMIM:608119, RefSeq DNA:NT_026437, RefSeq Protein:NP_065885, RefSeq RNA:NM_020834, UniProtKB:Q8IX15 No chr14 23742844 23762862 23273635 23286100 +PA134945565 51361 HGNC:19884 ENSG00000134709 hook microtubule tethering protein 1 HOOK1 hook homolog 1 (Drosophila), hook microtubule-tethering protein 1 HK1 Yes No Ensembl:ENSG00000134709, GeneCard:HOOK1, HGNC:HGNC:19884, HumanCyc Gene:HS13540, ModBase:Q9UJC3, NCBI Gene:51361, OMIM:607820, RefSeq DNA:NT_032977, RefSeq Protein:NP_056972, RefSeq RNA:NM_015888, UniProtKB:Q9UJC3 No chr1 60280458 60342050 59814861 59876378 +PA134986864 29911 HGNC:19885 ENSG00000095066 hook microtubule tethering protein 2 HOOK2 hook homolog 2 (Drosophila), hook microtubule-tethering protein 2 HK2 Yes No Ensembl:ENSG00000095066, GeneCard:HOOK2, HGNC:HGNC:19885, HumanCyc Gene:HS01811, ModBase:Q96ED9, NCBI Gene:29911, OMIM:607824, RefSeq DNA:NT_011295, RefSeq Protein:NP_001093646, RefSeq Protein:NP_037444, RefSeq RNA:NM_001100176, RefSeq RNA:NM_013312, UniProtKB:Q96ED9 No chr19 12873817 12889248 12763002 12778484 +PA134961305 84376 HGNC:23576 ENSG00000168172 hook microtubule tethering protein 3 HOOK3 hook homolog 3 (Drosophila), hook microtubule-tethering protein 3 HK3 Yes No Comparative Toxicogenomics Database:84376, Ensembl:ENSG00000168172, GeneCard:HOOK3, HGNC:HGNC:23576, HumanCyc Gene:HS09707, ModBase:Q86VS8, NCBI Gene:84376, OMIM:607825, RefSeq DNA:NT_167187, RefSeq Protein:NP_115786, RefSeq RNA:NM_032410, UniProtKB:Q86VS8 No chr8 42752033 42885682 42896890 43030539 +PA162391564 84525 HGNC:24961 ENSG00000171476 HOP homeobox HOPX homeobox only domain HOP, LAGY, NECC1, OB1, SMAP31 Yes No Ensembl:ENSG00000171476, GeneCard:HOPX, HGNC:HGNC:24961, HumanCyc Gene:HS10315, ModBase:Q9BPY8, NCBI Gene:84525, OMIM:607275, RefSeq DNA:NT_022853, RefSeq Protein:NP_001138931, RefSeq Protein:NP_001138932, RefSeq Protein:NP_115884, RefSeq Protein:NP_631957, RefSeq Protein:NP_631958, RefSeq RNA:NM_001145459, RefSeq RNA:NM_001145460, RefSeq RNA:NM_032495, RefSeq RNA:NM_139211, RefSeq RNA:NM_139212, UniProtKB:B7WNL2, UniProtKB:Q9BPY8 No chr4 57514154 57547874 56647988 56681866 +PA134930374 84072 HGNC:25245 ENSG00000143452 HORMA domain containing 1 HORMAD1 cancer/testis antigen 46 CT46, DKFZP434A1315 Yes No Ensembl:ENSG00000143452, GeneCard:HORMAD1, HGNC:HGNC:25245, HumanCyc Gene:HS13965, ModBase:Q86X24, NCBI Gene:84072, OMIM:609824, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186758, RefSeq Protein:NP_115508, RefSeq RNA:NM_001199829, RefSeq RNA:NM_032132, UniProtKB:Q86X24 No chr1 150670535 150693372 150698059 150720910 +PA134889862 150280 HGNC:28383 ENSG00000176635 HORMA domain containing 2 HORMAD2 CT46.2, MGC26710 Yes No Ensembl:ENSG00000176635, GeneCard:HORMAD2, HGNC:HGNC:28383, HumanCyc Gene:HS16699, ModBase:Q8N7B1, NCBI Gene:150280, RefSeq DNA:NT_011520, RefSeq Protein:NP_689723, RefSeq RNA:NM_152510, UniProtKB:Q8N7B1 No chr22 30476453 30573064 30080069 30207425 +PA162391575 100124700 HGNC:33510 ENSG00000228630 HOX transcript antisense RNA HOTAIR HOXC cluster antisense RNA 4 (non-protein coding), non-protein coding RNA 72 HOXC-AS4, HOXC11-AS1, NCRNA00072 Yes Yes Ensembl:ENSG00000228630, GeneCard:HOTAIR, HGNC:HGNC:33510, NCBI Gene:100124700, OMIM:611400, RefSeq DNA:NT_029419, RefSeq RNA:NR_003716 No chr12 54356092 54368740 53962308 53974956 +PA165618126 100506311 HGNC:37117 ENSG00000233429 HOXA transcript antisense RNA, myeloid-specific 1 HOTAIRM1 HOXA cluster antisense RNA 1 (non-protein coding), non-protein coding RNA 179 HOXA-AS1, HOXA1-AS1, NCRNA00179 Yes No Ensembl:ENSG00000233429, GeneCard:HOTAIRM1, HGNC:HGNC:37117, NCBI Gene:100506311 No chr7 27135713 27139877 27096094 27100258 +PA165618182 100316868 HGNC:37461 ENSG00000243766 HOXA distal transcript antisense RNA HOTTIP HOXA cluster antisense RNA 6 (non-protein coding), HOXA transcript at the distal tip, HOXA13 antisense RNA 1 (non-protein coding) HOXA-AS6, HOXA13-AS1, RP1-170O19.3 Yes Yes Ensembl:ENSG00000243766, GeneCard:HOTTIP, HGNC:HGNC:37461, NCBI Gene:100316868, RefSeq RNA:NR_037843 No chr7 27240040 27246139 27200421 27207259 +PA35097 3197 HGNC:5098 homeobox A cluster HOXA@ Yes No GenAtlas:HOXA@, GeneCard:HOXA@, HGNC:HGNC:5098, NCBI Gene:3197 No chr7 +PA29376 3198 HGNC:5099 ENSG00000105991 homeobox A1 HOXA1 HOX1, HOX1F Yes No Comparative Toxicogenomics Database:3198, Ensembl:ENSG00000105991, GenAtlas:HOXA1, GeneCard:HOXA1, HGNC:HGNC:5099, HumanCyc Gene:HS02841, ModBase:P49639, NCBI Gene:3198, OMIM:142955, OMIM:601536, RefSeq DNA:NG_011813, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_005513, RefSeq Protein:NP_705873, RefSeq RNA:NM_005522, RefSeq RNA:NM_153620, UCSC Genome Browser:NM_005522, UniProtKB:P49639 No chr7 27132612 27135625 27092993 27096006 +PA29377 3206 HGNC:5100 ENSG00000253293 homeobox A10 HOXA10 HOX1, HOX1H Yes No Comparative Toxicogenomics Database:3206, Ensembl:ENSG00000253293, GenAtlas:HOXA10, GeneCard:HOXA10, HGNC:HGNC:5100, HumanCyc Gene:HS07923, ModBase:P31260, NCBI Gene:3206, OMIM:142957, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_061824, RefSeq Protein:NP_714926, RefSeq RNA:NM_018951, RefSeq RNA:NM_153715, RefSeq RNA:NR_037939, UCSC Genome Browser:NM_018951, UniProtKB:P31260, UniProtKB:Q504T1 No chr7 27210210 27219880 27170591 27180261 +PA29378 3207 HGNC:5101 ENSG00000005073 homeobox A11 HOXA11 HOX1, HOX1I Yes No Comparative Toxicogenomics Database:3207, Ensembl:ENSG00000005073, GenAtlas:HOXA11, GeneCard:HOXA11, HGNC:HGNC:5101, HumanCyc Gene:HS00126, ModBase:P31270, NCBI Gene:3207, OMIM:142958, OMIM:605432, RefSeq DNA:NG_012079, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_005514, RefSeq RNA:NM_005523, UCSC Genome Browser:NM_005523, UniProtKB:P31270 No chr7 27220776 27224835 27181157 27185216 +PA162391589 221883 HGNC:24957 ENSG00000240990 HOXA11 antisense RNA HOXA11-AS HOXA cluster antisense RNA 5 (non-protein coding), HOXA11 antisense RNA 1 (non-protein coding), non-protein coding RNA 76 HOXA-AS5, HOXA11-AS1, HOXA11S, NCRNA00076 Yes No Ensembl:ENSG00000240990, GeneCard:HOXA11AS, HGNC:HGNC:24957, NCBI Gene:221883, OMIM:607530, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_002795 No chr7 27225027 27228912 27185408 27189293 +PA29379 3209 HGNC:5102 ENSG00000106031 homeobox A13 HOXA13 HOX1, HOX1J Yes No Comparative Toxicogenomics Database:3209, Ensembl:ENSG00000106031, GenAtlas:HOXA13, GeneCard:HOXA13, HGNC:HGNC:5102, HumanCyc Gene:HS02852, ModBase:P31271, NCBI Gene:3209, OMIM:140000, OMIM:142959, OMIM:176305, RefSeq DNA:NG_008181, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000513, RefSeq RNA:NM_000522, UCSC Genome Browser:NM_000522, UniProtKB:P31271, UniProtKB:Q6DI00 No chr7 27236499 27239725 27196880 27200106 +PA29380 3199 HGNC:5103 ENSG00000105996 homeobox A2 HOXA2 HOX1K Yes No Comparative Toxicogenomics Database:3199, Ensembl:ENSG00000105996, GenAtlas:HOXA2, GeneCard:HOXA2, HGNC:HGNC:5103, HumanCyc Gene:HS02843, ModBase:O43364, NCBI Gene:3199, OMIM:604685, OMIM:612290, RefSeq DNA:NG_012078, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_006726, RefSeq RNA:NM_006735, UCSC Genome Browser:NM_006735, UniProtKB:O43364 No chr7 27139973 27142394 27100354 27102775 +PA29381 3200 HGNC:5104 ENSG00000105997 homeobox A3 HOXA3 HOX1, HOX1E Yes No Comparative Toxicogenomics Database:3200, Ensembl:ENSG00000105997, GenAtlas:HOXA3, GeneCard:HOXA3, HGNC:HGNC:5104, HumanCyc Gene:HS02844, ModBase:O43365, NCBI Gene:3200, OMIM:142954, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_109377, RefSeq Protein:NP_705895, RefSeq Protein:NP_705896, RefSeq RNA:NM_030661, RefSeq RNA:NM_153631, RefSeq RNA:NM_153632, UCSC Genome Browser:NM_030661, UniProtKB:A4D182, UniProtKB:B3KPN8, UniProtKB:O43365 No chr7 27145803 27179805 27106190 27152581 +PA29382 3201 HGNC:5105 ENSG00000197576 homeobox A4 HOXA4 HOX1, HOX1D Yes No Comparative Toxicogenomics Database:3201, Ensembl:ENSG00000197576, GenAtlas:HOXA4, GeneCard:HOXA4, HGNC:HGNC:5105, ModBase:Q00056, NCBI Gene:3201, OMIM:142953, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002132, RefSeq RNA:NM_002141, UCSC Genome Browser:NM_002141, UniProtKB:Q00056 No chr7 27168126 27170399 27128507 27130780 +PA29383 3202 HGNC:5106 ENSG00000106004 homeobox A5 HOXA5 HOX1, HOX1C Yes No Comparative Toxicogenomics Database:3202, Ensembl:ENSG00000106004, GenAtlas:HOXA5, GeneCard:HOXA5, HGNC:HGNC:5106, HumanCyc Gene:HS02846, ModBase:P20719, NCBI Gene:3202, OMIM:142952, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_061975, RefSeq RNA:NM_019102, UCSC Genome Browser:NM_019102, UniProtKB:P20719 No chr7 27180671 27192309 27141052 27143668 +PA29384 3203 HGNC:5107 ENSG00000106006 homeobox A6 HOXA6 HOX1, HOX1B Yes No Comparative Toxicogenomics Database:3203, Ensembl:ENSG00000106006, GenAtlas:HOXA6, GeneCard:HOXA6, HGNC:HGNC:5107, HumanCyc Gene:HS02847, ModBase:P31267, NCBI Gene:3203, OMIM:142951, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_076919, RefSeq RNA:NM_024014, UCSC Genome Browser:NM_024014, UniProtKB:P31267 No chr7 27185202 27187393 27145583 27147774 +PA29385 3204 HGNC:5108 ENSG00000122592 homeobox A7 HOXA7 HOX1, HOX1A Yes No Comparative Toxicogenomics Database:3204, Ensembl:ENSG00000122592, GenAtlas:HOXA7, GeneCard:HOXA7, HGNC:HGNC:5108, HumanCyc Gene:HS04581, ModBase:P31268, NCBI Gene:3204, OMIM:142950, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_008827, RefSeq RNA:NM_006896, UCSC Genome Browser:NM_006896, UniProtKB:P31268 No chr7 27193335 27196296 27153716 27156677 +PA29386 3205 HGNC:5109 ENSG00000078399 homeobox A9 HOXA9 HOX1, HOX1G Yes No Comparative Toxicogenomics Database:3205, Ensembl:ENSG00000078399, GenAtlas:HOXA9, GeneCard:HOXA9, HGNC:HGNC:5109, HumanCyc Gene:HS01286, ModBase:P31269, NCBI Gene:3205, OMIM:142956, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_689952, RefSeq RNA:NM_152739, UCSC Genome Browser:NM_002142, UniProtKB:P31269 No chr7 27202057 27205149 27162438 27165530 +PA35098 3210 HGNC:5110 homeobox B cluster HOXB@ Yes No GenAtlas:HOXB@, GeneCard:HOXB@, HGNC:HGNC:5110, NCBI Gene:3210 No chr17 +PA29387 3211 HGNC:5111 ENSG00000120094 homeobox B1 HOXB1 HOX2, HOX2I Yes No Comparative Toxicogenomics Database:3211, Ensembl:ENSG00000120094, GenAtlas:HOXB1, GeneCard:HOXB1, HGNC:HGNC:5111, HumanCyc Gene:HS04370, ModBase:P14653, NCBI Gene:3211, OMIM:142968, RefSeq DNA:NT_010783, RefSeq Protein:NP_002135, RefSeq RNA:NM_002144, UCSC Genome Browser:NM_002144, UniProtKB:P14653 No chr17 46606807 46608272 48529445 48530910 +PA29388 10481 HGNC:5112 ENSG00000159184 homeobox B13 HOXB13 Yes No Comparative Toxicogenomics Database:10481, Ensembl:ENSG00000159184, GenAtlas:HOXB13, GeneCard:HOXB13, HGNC:HGNC:5112, HumanCyc Gene:HS08367, ModBase:Q92826, NCBI Gene:10481, OMIM:604607, RefSeq DNA:NT_010783, RefSeq Protein:NP_006352, RefSeq RNA:NM_006361, UCSC Genome Browser:NM_006361, UniProtKB:Q4KR72, UniProtKB:Q92826 No chr17 46802125 46806111 48724763 48728749 +PA29389 3212 HGNC:5113 ENSG00000173917 homeobox B2 HOXB2 HOX2, HOX2H Yes No Comparative Toxicogenomics Database:3212, Ensembl:ENSG00000173917, GenAtlas:HOXB2, GeneCard:HOXB2, HGNC:HGNC:5113, HumanCyc Gene:HS10749, ModBase:P14652, NCBI Gene:3212, OMIM:142967, RefSeq DNA:NT_010783, RefSeq Protein:NP_002136, RefSeq RNA:NM_002145, UCSC Genome Browser:NM_002145, UniProtKB:P14652 No chr17 46620017 46622393 48542655 48545031 +PA29390 3213 HGNC:5114 ENSG00000120093 homeobox B3 HOXB3 HOX2, HOX2G Yes No Comparative Toxicogenomics Database:3213, Ensembl:ENSG00000120093, GenAtlas:HOXB3, GeneCard:HOXB3, HGNC:HGNC:5114, HumanCyc Gene:HS04369, ModBase:P14651, NCBI Gene:3213, OMIM:142966, RefSeq DNA:NT_010783, RefSeq Protein:NP_002137, RefSeq RNA:NM_002146, UCSC Genome Browser:NM_002146, UniProtKB:B3KNJ7, UniProtKB:P14651 No chr17 46626232 46667634 48548870 48590369 +PA29391 3214 HGNC:5115 ENSG00000182742 homeobox B4 HOXB4 HOX2, HOX2F Yes No Comparative Toxicogenomics Database:3214, Ensembl:ENSG00000182742, GenAtlas:HOXB4, GeneCard:HOXB4, HGNC:HGNC:5115, ModBase:P17483, NCBI Gene:3214, OMIM:142965, RefSeq DNA:NT_010783, RefSeq Protein:NP_076920, RefSeq RNA:NM_024015, UCSC Genome Browser:NM_024015, UniProtKB:P17483 No chr17 46652869 46655743 48575507 48578381 +PA29392 3215 HGNC:5116 ENSG00000120075 homeobox B5 HOXB5 HOX2, HOX2A Yes No Comparative Toxicogenomics Database:3215, Ensembl:ENSG00000120075, GenAtlas:HOXB5, GeneCard:HOXB5, HGNC:HGNC:5116, HumanCyc Gene:HS04366, ModBase:P09067, NCBI Gene:3215, OMIM:142960, RefSeq DNA:NT_010783, RefSeq Protein:NP_002138, RefSeq RNA:NM_002147, UCSC Genome Browser:NM_002147, UniProtKB:P09067 No chr17 46668619 46671103 48591257 48593741 +PA29393 3216 HGNC:5117 ENSG00000108511 homeobox B6 HOXB6 HOX2, HOX2B Yes No Comparative Toxicogenomics Database:3216, Ensembl:ENSG00000108511, GenAtlas:HOXB6, GeneCard:HOXB6, HGNC:HGNC:5117, HumanCyc Gene:HS03115, ModBase:P17509, NCBI Gene:3216, OMIM:142961, RefSeq DNA:NT_010783, RefSeq Protein:NP_061825, RefSeq RNA:NM_018952, UCSC Genome Browser:NM_018952, UniProtKB:P17509 No chr17 46673099 46682343 48595736 48604992 +PA29394 3217 HGNC:5118 ENSG00000260027 homeobox B7 HOXB7 HOX2, HOX2C Yes No Comparative Toxicogenomics Database:3217, Ensembl:ENSG00000260027, GenAtlas:HOXB7, GeneCard:HOXB7, HGNC:HGNC:5118, HumanCyc Gene:HS04367, ModBase:P09629, NCBI Gene:3217, OMIM:142962, RefSeq DNA:NT_010783, RefSeq Protein:NP_004493, RefSeq RNA:NM_004502, UCSC Genome Browser:NM_004502 No chr17 46684594 46688383 48607232 48611021 +PA29395 3218 HGNC:5119 ENSG00000120068 homeobox B8 HOXB8 HOX2, HOX2D Yes No Comparative Toxicogenomics Database:3218, Ensembl:ENSG00000120068, GenAtlas:HOXB8, GeneCard:HOXB8, HGNC:HGNC:5119, HumanCyc Gene:HS04365, ModBase:P17481, NCBI Gene:3218, OMIM:142963, RefSeq DNA:NT_010783, RefSeq Protein:NP_076921, RefSeq RNA:NM_024016, UCSC Genome Browser:NM_024016, UniProtKB:P17481, UniProtKB:Q8N8T3 No chr17 46689708 46692474 48612346 48622853 +PA29396 3219 HGNC:5120 ENSG00000170689 homeobox B9 HOXB9 HOX2, HOX2E Yes No Comparative Toxicogenomics Database:3219, Ensembl:ENSG00000170689, GenAtlas:HOXB9, GeneCard:HOXB9, HGNC:HGNC:5120, HumanCyc Gene:HS10168, ModBase:P17482, NCBI Gene:3219, OMIM:142964, RefSeq DNA:NT_010783, RefSeq Protein:NP_076922, RefSeq RNA:NM_024017, UCSC Genome Browser:NM_024017, UniProtKB:B3KPJ1, UniProtKB:P17482 No chr17 46698518 46703835 48621156 48626473 +PA35099 3220 HGNC:5121 homeobox C cluster HOXC@ Yes No GenAtlas:HOXC@, GeneCard:HOXC@, HGNC:HGNC:5121, NCBI Gene:3220 No chr12 +PA29397 3226 HGNC:5122 ENSG00000180818 homeobox C10 HOXC10 HOX3I Yes No Comparative Toxicogenomics Database:3226, Ensembl:ENSG00000180818, GenAtlas:HOXC10, GeneCard:HOXC10, HGNC:HGNC:5122, HumanCyc Gene:HS11535, ModBase:Q9NYD6, NCBI Gene:3226, OMIM:605560, RefSeq DNA:NT_029419, RefSeq Protein:NP_059105, RefSeq RNA:NM_017409, UCSC Genome Browser:NM_017409, UniProtKB:Q53XI4, UniProtKB:Q9NYD6 No chr12 54374466 54384063 53985162 53990279 +PA29398 3227 HGNC:5123 ENSG00000123388 homeobox C11 HOXC11 HOX3H Yes No Ensembl:ENSG00000123388, GenAtlas:HOXC11, GeneCard:HOXC11, HGNC:HGNC:5123, HumanCyc Gene:HS04654, ModBase:O43248, NCBI Gene:3227, OMIM:605559, RefSeq DNA:NT_029419, RefSeq Protein:NP_055027, RefSeq RNA:NM_014212, UCSC Genome Browser:NM_014212, UniProtKB:O43248 No chr12 54366910 54370203 53973126 53976419 +PA29399 3228 HGNC:5124 ENSG00000123407 homeobox C12 HOXC12 HOC3F, HOX3, HOX3F Yes No Ensembl:ENSG00000123407, GenAtlas:HOXC12, GeneCard:HOXC12, HGNC:HGNC:5124, HumanCyc Gene:HS04656, ModBase:P31275, NCBI Gene:3228, OMIM:142975, RefSeq DNA:NT_029419, RefSeq Protein:NP_776272, RefSeq RNA:NM_173860, UCSC Genome Browser:NM_173860, UniProtKB:P31275 No chr12 54348714 54350350 53954930 53956566 +PA29400 3229 HGNC:5125 ENSG00000123364 homeobox C13 HOXC13 HOX3, HOX3G Yes No Ensembl:ENSG00000123364, GenAtlas:HOXC13, GeneCard:HOXC13, HGNC:HGNC:5125, HumanCyc Gene:HS04652, ModBase:P31276, NCBI Gene:3229, OMIM:142976, RefSeq DNA:NT_029419, RefSeq Protein:NP_059106, RefSeq RNA:NM_017410, UCSC Genome Browser:NM_017410, UniProtKB:P31276 No chr12 54332576 54340328 53938792 53946544 +PA29401 3221 HGNC:5126 ENSG00000198353 homeobox C4 HOXC4 HOX3, HOX3E Yes No Comparative Toxicogenomics Database:3221, Ensembl:ENSG00000198353, GenAtlas:HOXC4, GeneCard:HOXC4, HGNC:HGNC:5126, HumanCyc Gene:HS10105, ModBase:P09017, NCBI Gene:3221, OMIM:142974, RefSeq DNA:NG_005542, RefSeq DNA:NT_029419, RefSeq Protein:NP_055435, RefSeq Protein:NP_705897, RefSeq RNA:NM_014620, RefSeq RNA:NM_153633, UCSC Genome Browser:NM_014620, UniProtKB:P09017, UniProtKB:Q86TF7 No chr12 54388716 54449814 54016852 54056030 +PA29402 3222 HGNC:5127 ENSG00000172789 homeobox C5 HOXC5 HOX3, HOX3D Yes No Comparative Toxicogenomics Database:3222, Ensembl:ENSG00000172789, GenAtlas:HOXC5, GeneCard:HOXC5, HGNC:HGNC:5127, HumanCyc Gene:HS10568, ModBase:Q00444, NCBI Gene:3222, OMIM:142973, RefSeq DNA:NG_005542, RefSeq DNA:NT_029419, RefSeq Protein:NP_061826, RefSeq RNA:NM_018953, RefSeq RNA:NR_003084, UCSC Genome Browser:NM_018953, UniProtKB:Q00444 No chr12 54410642 54429145 54016852 54035361 +PA29403 3223 HGNC:5128 ENSG00000197757 homeobox C6 HOXC6 HOX3, HOX3C Yes No Comparative Toxicogenomics Database:3223, Ensembl:ENSG00000197757, GenAtlas:HOXC6, GeneCard:HOXC6, HGNC:HGNC:5128, HumanCyc Gene:HS04658, ModBase:P09630, NCBI Gene:3223, OMIM:142972, RefSeq DNA:NG_005542, RefSeq DNA:NT_029419, RefSeq Protein:NP_004494, RefSeq Protein:NP_710160, RefSeq RNA:NM_004503, RefSeq RNA:NM_153693, UCSC Genome Browser:NM_004503, UniProtKB:P09630 No chr12 54410642 54424607 54016852 54030823 +PA29404 3224 HGNC:5129 ENSG00000037965 homeobox C8 HOXC8 HOX3, HOX3A Yes No Comparative Toxicogenomics Database:3224, Ensembl:ENSG00000037965, GenAtlas:HOXC8, GeneCard:HOXC8, HGNC:HGNC:5129, HumanCyc Gene:HS00527, ModBase:P31273, NCBI Gene:3224, OMIM:142970, RefSeq DNA:NT_029419, RefSeq Protein:NP_073149, RefSeq RNA:NM_022658, UCSC Genome Browser:NM_022658, UniProtKB:P31273 No chr12 54402890 54406547 54009106 54012763 +PA29405 3225 HGNC:5130 ENSG00000180806 homeobox C9 HOXC9 HOX3, HOX3B Yes No Ensembl:ENSG00000180806, GenAtlas:HOXC9, GeneCard:HOXC9, HGNC:HGNC:5130, HumanCyc Gene:HS11533, ModBase:P31274, NCBI Gene:3225, OMIM:142971, RefSeq DNA:NT_029419, RefSeq Protein:NP_008828, RefSeq RNA:NM_006897, UCSC Genome Browser:NM_006897, UniProtKB:P31274, UniProtKB:Q8N561 No chr12 54393877 54397121 54000093 54003337 +PA35100 3230 HGNC:5131 homeobox D cluster HOXD@ Yes No GenAtlas:HOXD@, GeneCard:HOXD@, HGNC:HGNC:5131, NCBI Gene:3230 No chr2 +PA29406 3231 HGNC:5132 ENSG00000128645 homeobox D1 HOXD1 HOX4, HOX4G Yes No Ensembl:ENSG00000128645, GenAtlas:HOXD1, GeneCard:HOXD1, HGNC:HGNC:5132, HumanCyc Gene:HS05210, ModBase:Q9GZZ0, NCBI Gene:3231, OMIM:142987, RefSeq DNA:NT_005403, RefSeq Protein:NP_078777, RefSeq RNA:NM_024501, UCSC Genome Browser:NM_024501, UniProtKB:Q9GZZ0 No chr2 177053307 177055635 176188579 176190907 +PA29407 3236 HGNC:5133 ENSG00000128710 homeobox D10 HOXD10 HOX4, HOX4D Yes No Comparative Toxicogenomics Database:3236, Ensembl:ENSG00000128710, GenAtlas:HOXD10, GeneCard:HOXD10, HGNC:HGNC:5133, HumanCyc Gene:HS05218, ModBase:P28358, NCBI Gene:3236, OMIM:142984, OMIM:192950, RefSeq DNA:NG_008133, RefSeq DNA:NT_005403, RefSeq Protein:NP_002139, RefSeq RNA:NM_002148, UCSC Genome Browser:NM_002148, UniProtKB:P28358 No chr2 176981492 176984670 176116764 176119942 +PA29408 3237 HGNC:5134 ENSG00000128713 homeobox D11 HOXD11 HOX4, HOX4F Yes No Comparative Toxicogenomics Database:3237, Ensembl:ENSG00000128713, GenAtlas:HOXD11, GeneCard:HOXD11, HGNC:HGNC:5134, HumanCyc Gene:HS05219, ModBase:P31277, NCBI Gene:3237, OMIM:142986, RefSeq DNA:NT_005403, RefSeq Protein:NP_067015, RefSeq RNA:NM_021192, UCSC Genome Browser:NM_021192, UniProtKB:P31277 No chr2 176971721 176976563 176107356 176109588 +PA29409 3238 HGNC:5135 ENSG00000170178 homeobox D12 HOXD12 HOX4H Yes No Comparative Toxicogenomics Database:3238, Ensembl:ENSG00000170178, GenAtlas:HOXD12, GeneCard:HOXD12, HGNC:HGNC:5135, HumanCyc Gene:HS10078, ModBase:P35452, NCBI Gene:3238, OMIM:142988, RefSeq DNA:NT_005403, RefSeq Protein:NP_067016, RefSeq RNA:NM_021193, UCSC Genome Browser:NM_021193, UniProtKB:P35452 No chr2 176964530 176965488 176099802 176100760 +PA29410 3239 HGNC:5136 ENSG00000128714 homeobox D13 HOXD13 synpolydactyly HOX4I, SPD Yes No Comparative Toxicogenomics Database:3239, Ensembl:ENSG00000128714, GenAtlas:HOXD13, GeneCard:HOXD13, HGNC:HGNC:5136, HumanCyc Gene:HS05220, ModBase:P35453, NCBI Gene:3239, OMIM:113200, OMIM:113300, OMIM:142989, OMIM:186000, OMIM:186300, OMIM:192350, OMIM:610713, RefSeq DNA:NG_008137, RefSeq DNA:NT_005403, RefSeq Protein:NP_000514, RefSeq RNA:NM_000523, UCSC Genome Browser:NM_000523, UniProtKB:P35453 No chr2 176957532 176960666 176087487 176095938 +PA29411 3232 HGNC:5137 ENSG00000128652 homeobox D3 HOXD3 HOX1D, HOX4, HOX4A Yes No Comparative Toxicogenomics Database:3232, Ensembl:ENSG00000128652, GenAtlas:HOXD3, GeneCard:HOXD3, HGNC:HGNC:5137, HumanCyc Gene:HS05211, ModBase:P31249, NCBI Gene:3232, OMIM:142980, RefSeq DNA:NT_005403, RefSeq Protein:NP_008829, RefSeq RNA:NM_006898, UCSC Genome Browser:NM_006898, UniProtKB:P31249 No chr2 177001669 177043737 176136921 176173102 +PA29412 3233 HGNC:5138 ENSG00000170166 homeobox D4 HOXD4 HOX4, HOX4B Yes No Comparative Toxicogenomics Database:3233, Ensembl:ENSG00000170166, GenAtlas:HOXD4, GeneCard:HOXD4, HGNC:HGNC:5138, HumanCyc Gene:HS10076, ModBase:P09016, NCBI Gene:3233, OMIM:142981, RefSeq DNA:NG_012080, RefSeq DNA:NT_005403, RefSeq Protein:NP_055436, RefSeq RNA:NM_014621, UCSC Genome Browser:NM_014621, UniProtKB:P09016 No chr2 177015122 177017951 176150394 176156078 +PA29413 3234 HGNC:5139 ENSG00000175879 homeobox D8 HOXD8 HOX4, HOX4E Yes No Comparative Toxicogenomics Database:3234, Ensembl:ENSG00000175879, GenAtlas:HOXD8, GeneCard:HOXD8, HGNC:HGNC:5139, HumanCyc Gene:HS10981, ModBase:P13378, NCBI Gene:3234, OMIM:142985, RefSeq DNA:NT_005403, RefSeq Protein:NP_001186675, RefSeq Protein:NP_001186676, RefSeq Protein:NP_062458, RefSeq RNA:NM_001199746, RefSeq RNA:NM_001199747, RefSeq RNA:NM_019558, UCSC Genome Browser:NM_019558, UniProtKB:P13378 No chr2 176994422 176997423 176129694 176132695 +PA29414 3235 HGNC:5140 ENSG00000128709 homeobox D9 HOXD9 HOX4, HOX4C Yes No Comparative Toxicogenomics Database:3235, Ensembl:ENSG00000128709, GenAtlas:HOXD9, GeneCard:HOXD9, HGNC:HGNC:5140, HumanCyc Gene:HS05217, ModBase:P28356, NCBI Gene:3235, OMIM:142982, RefSeq DNA:NG_009225, RefSeq DNA:NT_005403, RefSeq Protein:NP_055028, RefSeq RNA:NM_014213, UCSC Genome Browser:NM_014213, UniProtKB:P28356 No chr2 176987413 176989645 176122685 176124917 +PA29415 3240 HGNC:5141 ENSG00000197711, ENSG00000257017 haptoglobin HP Yes No Comparative Toxicogenomics Database:3240, Ensembl:ENSG00000197711, Ensembl:ENSG00000257017, GenAtlas:HP, GeneCard:HP, HGNC:HGNC:5141, ModBase:P00738, NCBI Gene:3240, OMIM:140100, RefSeq DNA:NG_012651, RefSeq DNA:NT_010498, RefSeq Protein:NP_001119574, RefSeq Protein:NP_005134, RefSeq RNA:NM_001126102, RefSeq RNA:NM_005143, UCSC Genome Browser:NM_005143, UniProtKB:P00738, UniProtKB:Q6PEJ8 No chr16 72088470 72094955 72054592 72061056 +PA142671673 50809 HGNC:24973 ENSG00000127483 heterochromatin protein 1 binding protein 3 HP1BP3 heterochromatin protein 1, binding protein 3 HP1-BP74 Yes No Comparative Toxicogenomics Database:50809, Ensembl:ENSG00000127483, GeneCard:HP1BP3, HGNC:HGNC:24973, HumanCyc Gene:HS05102, ModBase:Q8NDF0, NCBI Gene:50809, RefSeq DNA:NT_004610, RefSeq Protein:NP_057371, RefSeq RNA:NM_016287, UniProtKB:Q5SSJ5 No chr1 21069170 21113808 20742677 20787809 +PA29417 3208 HGNC:5144 ENSG00000121905 hippocalcin HPCA DYT2 Yes No Comparative Toxicogenomics Database:3208, Ensembl:ENSG00000121905, GenAtlas:HPCA, GeneCard:HPCA, HGNC:HGNC:5144, HumanCyc Gene:HS04532, ModBase:P84074, NCBI Gene:3208, OMIM:142622, RefSeq DNA:NT_032977, RefSeq Protein:NP_002134, RefSeq RNA:NM_002143, UCSC Genome Browser:NM_002143, UniProtKB:P84074 No chr1 33351688 33360247 32885965 32894646 +PA29418 3241 HGNC:5145 ENSG00000115756 hippocalcin like 1 HPCAL1 calcium-binding protein BDR-1, hippocalcin-like 1, visinin-like protein 3 BDR1, HLP2, VILIP-3 Yes No Comparative Toxicogenomics Database:3241, Ensembl:ENSG00000115756, GenAtlas:HPCAL1, GeneCard:HPCAL1, HGNC:HGNC:5145, HumanCyc Gene:HS03934, ModBase:P37235, NCBI Gene:3241, OMIM:600207, RefSeq DNA:NT_005334, RefSeq Protein:NP_002140, RefSeq Protein:NP_602293, RefSeq RNA:NM_002149, RefSeq RNA:NM_134421, UCSC Genome Browser:NM_002149, UniProtKB:O75544, UniProtKB:P37235, UniProtKB:Q6FGY1 No chr2 10443015 10567743 10302124 10427617 +PA134924885 51440 HGNC:18212 ENSG00000116983 hippocalcin like 4 HPCAL4 DKFZp761G122, HLP4 Yes No Ensembl:ENSG00000116983, GeneCard:HPCAL4, HGNC:HGNC:18212, HumanCyc Gene:HS04075, ModBase:Q9UM19, NCBI Gene:51440, RefSeq DNA:NT_032977, RefSeq Protein:NP_057341, RefSeq RNA:NM_016257, UniProtKB:Q9UM19 No chr1 40144320 40157382 39678648 39691710 +PA29420 3242 HGNC:5147 ENSG00000158104 4-hydroxyphenylpyruvate dioxygenase HPD glyoxalase domain containing 3 4-HPPD, 4HPPD, GLOD3, HPPD, PPD Yes No Comparative Toxicogenomics Database:3242, Ensembl:ENSG00000158104, GenAtlas:HPD, GeneCard:HPD, HGNC:HGNC:5147, HumanCyc Gene:HS08267, ModBase:P32754, NCBI Gene:3242, OMIM:140350, OMIM:276710, OMIM:609695, RefSeq DNA:NG_016461, RefSeq DNA:NT_009775, RefSeq Protein:NP_001165464, RefSeq Protein:NP_002141, RefSeq RNA:NM_001171993, RefSeq RNA:NM_002150, UCSC Genome Browser:NM_002150, UniProtKB:B3KQ63, UniProtKB:P32754 No chr12 122277433 122326517 121839527 121888611 +PA162391595 84842 HGNC:28242 ENSG00000186603 4-hydroxyphenylpyruvate dioxygenase like HPDL 4-hydroxyphenylpyruvate dioxygenase-like 4-HPPD-L, GLOXD1, MGC15668 Yes No Ensembl:ENSG00000186603, GeneCard:HPDL, HGNC:HGNC:28242, ModBase:Q96IR7, NCBI Gene:84842, RefSeq DNA:NT_032977, RefSeq Protein:NP_116145, RefSeq RNA:NM_032756, UniProtKB:Q96IR7 No chr1 45792545 45794347 45326873 45328675 +PA145149735 54969 HGNC:26051 ENSG00000056050 histone PARylation factor 1 HPF1 chromosome 4 open reading frame 27 C4orf27, FLJ20534 Yes No Ensembl:ENSG00000056050, GeneCard:C4orf27, HGNC:HGNC:26051, HumanCyc Gene:HS12145, NCBI Gene:54969, RefSeq DNA:NT_016354, RefSeq Protein:NP_060337, RefSeq RNA:NM_017867, UniProtKB:Q9NWY4 No chr4 170650619 170679093 169729468 169757954 +PA29424 3248 HGNC:5154 ENSG00000164120 15-hydroxyprostaglandin dehydrogenase HPGD """15-hydroxyprostaglandin dehydrogenase (NAD(+))"", ""hydroxyprostaglandin dehydrogenase 15-(NAD)"", ""short chain dehydrogenase/reductase family 36C, member 1""" SDR36C1 Yes Yes Comparative Toxicogenomics Database:3248, Ensembl:ENSG00000164120, GenAtlas:HPGD, GeneCard:HPGD, HGNC:HGNC:5154, HumanCyc Gene:HS09021, ModBase:P15428, NCBI Gene:3248, OMIM:119900, OMIM:259100, OMIM:601688, RefSeq DNA:NG_011689, RefSeq DNA:NT_016354, RefSeq Protein:NP_000851, RefSeq Protein:NP_001139288, RefSeq RNA:NM_000860, RefSeq RNA:NM_001145816, RefSeq RNA:NR_027332, UCSC Genome Browser:NM_000860, UniProtKB:B4DU74, UniProtKB:B4DV57, UniProtKB:P15428 No chr4 175411328 175444049 174490177 174522898 +PA165664133 27306 HGNC:17890 ENSG00000163106 hematopoietic prostaglandin D synthase HPGDS glutathione S-transferase sigma GSTS, GSTS1, GSTS1-1, H-PGDS, PGD2, PGDS Yes No Ensembl:ENSG00000163106, GeneCard:HPGDS, HGNC:HGNC:17890, HumanCyc Gene:HS08788, ModBase:O60760, NCBI Gene:27306, OMIM:602598, RefSeq DNA:NT_016354, RefSeq Protein:NP_055300, RefSeq RNA:NM_014485, UniProtKB:O60760 No chr4 95219707 95264027 94298556 94342876 +PA29425 3249 HGNC:5155 ENSG00000105707 hepsin HPN transmembrane protease, serine 1 TMPRSS1 Yes No Comparative Toxicogenomics Database:3249, Ensembl:ENSG00000105707, GenAtlas:HPN, GeneCard:HPN, HGNC:HGNC:5155, HumanCyc Gene:HS02801, ModBase:P05981, NCBI Gene:3249, OMIM:142440, RefSeq DNA:NT_011109, RefSeq Protein:NP_002142, RefSeq Protein:NP_892028, RefSeq RNA:NM_002151, RefSeq RNA:NM_182983, UCSC Genome Browser:NM_002151, UniProtKB:P05981 No chr19 35531410 35557481 35040506 35066573 +PA29426 3250 HGNC:5156 ENSG00000261701 haptoglobin-related protein HPR Yes Yes Ensembl:ENSG00000261701, GenAtlas:HPR, GeneCard:HPR, HGNC:HGNC:5156, ModBase:P00739, NCBI Gene:3250, OMIM:140210, RefSeq DNA:NT_010498, RefSeq Protein:NP_066275, RefSeq RNA:NM_020995, UCSC Genome Browser:NM_020995, UniProtKB:P00739 No chr16 72097125 72111145 72063226 72077246 +PA29427 3251 HGNC:5157 ENSG00000165704 hypoxanthine phosphoribosyltransferase 1 HPRT1 Lesch-Nyhan syndrome, hypoxanthine guanine phosphoribosyl transferase HGPRT, HPRT Yes No Comparative Toxicogenomics Database:3251, Ensembl:ENSG00000165704, GenAtlas:HPRT1, GeneCard:HPRT1, HGNC:HGNC:5157, HumanCyc Gene:HS09275, ModBase:P00492, NCBI Gene:3251, OMIM:300322, OMIM:300323, OMIM:308000, RefSeq DNA:NG_012329, RefSeq DNA:NT_011786, RefSeq Protein:NP_000185, RefSeq RNA:NM_000194, UCSC Genome Browser:NM_000194, UniProtKB:P00492 No chrX 133594175 133634698 134460145 134500668 +PA35101 3257 HGNC:5163 ENSG00000107521 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 HPS1 """HPS1, biogenesis of lysosomal organelles complex 3 subunit 1"", ""Hermansky-Pudlak syndrome 1""" BLOC3S1, HPS Yes No Comparative Toxicogenomics Database:3257, Ensembl:ENSG00000107521, GenAtlas:HPS1, GeneCard:HPS1, HGNC:HGNC:5163, HumanCyc Gene:HS03002, ModBase:Q92902, NCBI Gene:3257, OMIM:203300, OMIM:604982, RefSeq DNA:NG_009646, RefSeq DNA:NT_030059, RefSeq Protein:NP_000186, RefSeq Protein:NP_872577, RefSeq RNA:NM_000195, RefSeq RNA:NM_182639, UCSC Genome Browser:NM_000195, UniProtKB:Q8WXE5, UniProtKB:Q92902 No chr10 100175955 100206720 98415068 98446963 +PA29433 84343 HGNC:15597 ENSG00000163755 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 HPS3 """HPS3, biogenesis of lysosomal organelles complex 2 subunit 1"", ""Hermansky-Pudlak syndrome 3""" BLOC2S1, SUTAL Yes No Comparative Toxicogenomics Database:84343, Ensembl:ENSG00000163755, GenAtlas:HPS3, GeneCard:HPS3, HGNC:HGNC:15597, HumanCyc Gene:HS15104, ModBase:Q969F9, NCBI Gene:84343, OMIM:203300, OMIM:606118, RefSeq DNA:NG_009847, RefSeq DNA:NT_005612, RefSeq Protein:NP_115759, RefSeq RNA:NM_032383, UCSC Genome Browser:NM_032383, UniProtKB:Q969F9 No chr3 148847371 148891305 149129584 149173196 +PA29434 89781 HGNC:15844 ENSG00000100099 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 HPS4 """HPS4, biogenesis of lysosomal organelles complex 3 subunit 2"", ""Hermansky-Pudlak syndrome 4""" BLOC3S2, KIAA1667, LE Yes No Comparative Toxicogenomics Database:89781, Ensembl:ENSG00000100099, GenAtlas:HPS4, GeneCard:HPS4, HGNC:HGNC:15844, HumanCyc Gene:HS12385, ModBase:Q9NQG7, NCBI Gene:89781, OMIM:203300, OMIM:606682, RefSeq DNA:NG_009763, RefSeq DNA:NT_011520, RefSeq Protein:NP_071364, RefSeq Protein:NP_690054, RefSeq RNA:NM_022081, RefSeq RNA:NM_152841, UCSC Genome Browser:NM_022081, UniProtKB:Q9NQG7 No chr22 26846848 26879829 26443613 26483863 +PA38432 11234 HGNC:17022 ENSG00000110756 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 HPS5 """HPS5, biogenesis of lysosomal organelles complex 2 subunit 2"", ""Hermansky-Pudlak syndrome 5"", ""Ruby-eye protein 2 homolog"", ""alpha-integrin-binding protein 63""" AIBP63, BLOC2S2, RU2 Yes No Comparative Toxicogenomics Database:11234, Ensembl:ENSG00000110756, GenAtlas:HPS5, GeneCard:HPS5, HGNC:HGNC:17022, HumanCyc Gene:HS03335, ModBase:Q9UPZ3, NCBI Gene:11234, OMIM:203300, OMIM:607521, RefSeq DNA:NG_008877, RefSeq DNA:NT_009237, RefSeq Protein:NP_009147, RefSeq Protein:NP_852608, RefSeq Protein:NP_852609, RefSeq RNA:NM_007216, RefSeq RNA:NM_181507, RefSeq RNA:NM_181508, UCSC Genome Browser:NM_007216, UniProtKB:Q9UPZ3 No chr11 18300217 18343751 18278670 18322498 +PA134989637 79803 HGNC:18817 ENSG00000166189 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 HPS6 """HPS6, biogenesis of lysosomal organelles complex 2 subunit 3"", ""Hermansky-Pudlak syndrome 6""" BLOC2S3, FLJ22501 Yes No Comparative Toxicogenomics Database:79803, Ensembl:ENSG00000166189, GeneCard:HPS6, HGNC:HGNC:18817, HumanCyc Gene:HS15414, ModBase:Q86YV9, NCBI Gene:79803, OMIM:203300, OMIM:607522, RefSeq DNA:NG_012029, RefSeq DNA:NT_030059, RefSeq Protein:NP_079023, RefSeq RNA:NM_024747, UniProtKB:Q86YV9 No chr10 103825124 103827795 102065367 102068038 +PA29435 10855 HGNC:5164 ENSG00000173083 heparanase HPSE heparanase-1 HPA, HPSE1, HSE1 Yes No Comparative Toxicogenomics Database:10855, Ensembl:ENSG00000173083, GenAtlas:HPSE, GeneCard:HPSE, HGNC:HGNC:5164, HumanCyc Gene:HS10616, ModBase:Q9Y251, NCBI Gene:10855, OMIM:604724, RefSeq DNA:NT_016354, RefSeq Protein:NP_001092010, RefSeq Protein:NP_001159970, RefSeq Protein:NP_001186759, RefSeq Protein:NP_006656, RefSeq RNA:NM_001098540, RefSeq RNA:NM_001166498, RefSeq RNA:NM_001199830, RefSeq RNA:NM_006665, UCSC Genome Browser:NM_006665, UniProtKB:C7F7I3, UniProtKB:Q9Y251 No chr4 84213614 84256306 83292461 83335153 +PA38533 60495 HGNC:18374 ENSG00000172987 heparanase 2 (inactive) HPSE2 heparanase 2 HPA2, HPR2, UFS Yes No Ensembl:ENSG00000172987, GenAtlas:HPSE2, GeneCard:HPSE2, HGNC:HGNC:18374, HumanCyc Gene:HS10603, ModBase:Q8WWQ2, NCBI Gene:60495, OMIM:236730, OMIM:613469, RefSeq DNA:NG_023416, RefSeq DNA:NT_030059, RefSeq Protein:NP_001159716, RefSeq Protein:NP_001159717, RefSeq Protein:NP_001159718, RefSeq Protein:NP_068600, RefSeq RNA:NM_001166244, RefSeq RNA:NM_001166245, RefSeq RNA:NM_001166246, RefSeq RNA:NM_021828, UCSC Genome Browser:NM_021828, UniProtKB:Q2M1H9, UniProtKB:Q8WWQ2 No chr10 100216834 100995632 98457077 99235875 +PA29437 3260 HGNC:5166 human papilloma virus (type 18) integration site 1 HPV18I1 Yes No Comparative Toxicogenomics Database:3260, GenAtlas:HPV18I1, GeneCard:HPV18I1, HGNC:HGNC:5166, NCBI Gene:3260, OMIM:167959 No chr8 +PA29438 3261 HGNC:5167 human papillomavirus (type 18) integration site 2 HPV18I2 papillomavirus-associated locus 2 PAL2 Yes No Comparative Toxicogenomics Database:3261, GenAtlas:HPV18I2, GeneCard:HPV18I2, HGNC:HGNC:5167, NCBI Gene:3261, OMIM:167960 No chr12 +PA29439 3259 HGNC:5168 human papillomavirus (type 6a) integration site 1 HPV6AI1 Yes No GenAtlas:HPV6AI1, GeneCard:HPV6AI1, HGNC:HGNC:5168, NCBI Gene:3259, OMIM:604461 No chr14 +PA29441 3263 HGNC:5171 ENSG00000110169 hemopexin HPX Yes Yes Comparative Toxicogenomics Database:3263, Ensembl:ENSG00000110169, GenAtlas:HPX, GeneCard:HPX, HGNC:HGNC:5171, HumanCyc Gene:HS03290, ModBase:P02790, NCBI Gene:3263, OMIM:142290, RefSeq DNA:NT_009237, RefSeq Protein:NP_000604, RefSeq RNA:NM_000613, UCSC Genome Browser:NM_000613, UniProtKB:P02790, UniProtKB:Q9BS19 No chr11 6452268 6462254 6431038 6441024 +PA29442 93668 HGNC:16071 ENSG00000253521 Helicobacter pylori responsive 1 (non-protein coding) HPYR1 long intergenic non-protein coding RNA 27, non-protein coding RNA 27 HPRG1, LINC00027, NCRNA00027 Yes No Ensembl:ENSG00000253521, GenAtlas:HPYR1, GeneCard:HPYR1, HGNC:HGNC:16071, NCBI Gene:93668, RefSeq RNA:NR_026684 No chr8 133572745 133573726 132560498 132561479 +PA29443 55806 HGNC:5172 ENSG00000168453 HR lysine demethylase and nuclear receptor corepressor HR """HR, lysine demethylase and nuclear receptor corepressor"", ""hair growth associated""" ALUNC, AU Yes No Comparative Toxicogenomics Database:55806, Ensembl:ENSG00000168453, GenAtlas:HR, GeneCard:HR, HGNC:HGNC:5172, HumanCyc Gene:HS09764, ModBase:O43593, NCBI Gene:55806, OMIM:146550, OMIM:203655, OMIM:209500, OMIM:602302, RefSeq DNA:NG_008166, RefSeq DNA:NT_167187, RefSeq Protein:NP_005135, RefSeq Protein:NP_060881, RefSeq RNA:NM_005144, RefSeq RNA:NM_018411, UCSC Genome Browser:NM_005144, UniProtKB:O43593 No chr8 21971932 21988566 22114419 22131053 +PA29444 3265 HGNC:5173 ENSG00000174775 HRas proto-oncogene, GTPase HRAS Harvey rat sarcoma viral oncogene homolog, v-Ha-ras Harvey rat sarcoma viral oncogene homolog HRAS1 Yes No Comparative Toxicogenomics Database:3265, Ensembl:ENSG00000174775, GenAtlas:HRAS, GeneCard:HRAS, HGNC:HGNC:5173, HumanCyc Gene:HS10829, ModBase:P01112, NCBI Gene:3265, OMIM:109800, OMIM:188470, OMIM:190020, OMIM:218040, RefSeq DNA:NG_007666, RefSeq DNA:NT_009237, RefSeq Protein:NP_001123914, RefSeq Protein:NP_005334, RefSeq Protein:NP_789765, RefSeq RNA:NM_001130442, RefSeq RNA:NM_005343, RefSeq RNA:NM_176795, UCSC Genome Browser:NM_005343, UniProtKB:P01112, UniProtKB:Q9BR65 No chr11 532242 535561 532242 535567 +PA29452 3270 HGNC:5178 ENSG00000130528 histidine rich calcium binding protein HRC MGC133236 Yes No Ensembl:ENSG00000130528, GenAtlas:HRC, GeneCard:HRC, HGNC:HGNC:5178, HumanCyc Gene:HS05398, ModBase:P23327, NCBI Gene:3270, OMIM:142705, RefSeq DNA:NT_011109, RefSeq Protein:NP_002143, RefSeq RNA:NM_002152, UCSC Genome Browser:NM_002152, UniProtKB:P23327 No chr19 49654455 49658686 49151198 49155443 +PA164720718 646962 HGNC:33872 ENSG00000196196 histidine rich carboxyl terminus 1 HRCT1 LGLL338, PRO537, UNQ338 Yes No Ensembl:ENSG00000196196, GeneCard:HRCT1, HGNC:HGNC:33872, NCBI Gene:646962, RefSeq DNA:NT_008413, RefSeq Protein:NP_001034881, RefSeq RNA:NM_001039792, UniProtKB:Q6UXD1 No chr9 35906189 35907138 35906192 35907141 +PA29454 3272 HGNC:5180 HTLV-1 related endogenous sequence HRES1 Yes No GenAtlas:HRES1, GeneCard:HRES1, HGNC:HGNC:5180, NCBI Gene:3272, OMIM:143025, RefSeq DNA:NT_004559, RefSeq Protein:NP_001007239, RefSeq RNA:NM_001007238 No chr1 +PA29455 3273 HGNC:5181 ENSG00000113905 histidine rich glycoprotein HRG histidine-proline rich glycoprotein, histidine-rich glycoprotein, thrombophilia due to elevated HRG HPRG, HRGP Yes No Comparative Toxicogenomics Database:3273, Ensembl:ENSG00000113905, GenAtlas:HRG, GeneCard:HRG, HGNC:HGNC:5181, HumanCyc Gene:HS03726, ModBase:P04196, NCBI Gene:3273, OMIM:142640, OMIM:613116, RefSeq DNA:NG_021485, RefSeq DNA:NT_005612, RefSeq Protein:NP_000403, RefSeq RNA:NM_000412, UCSC Genome Browser:NM_000412, UniProtKB:P04196 No chr3 186383747 186396023 186665952 186678240 +PA29456 3269 HGNC:5182 ENSG00000196639 histamine receptor H1 HRH1 Yes Yes Comparative Toxicogenomics Database:3269, Ensembl:ENSG00000196639, GenAtlas:HRH1, GeneCard:HRH1, HGNC:HGNC:5182, IUPHAR Receptor:262, ModBase:P35367, NCBI Gene:3269, OMIM:600167, RefSeq DNA:NT_022517, RefSeq Protein:NP_000852, RefSeq Protein:NP_001091681, RefSeq Protein:NP_001091682, RefSeq Protein:NP_001091683, RefSeq RNA:NM_000861, RefSeq RNA:NM_001098211, RefSeq RNA:NM_001098212, RefSeq RNA:NM_001098213, UCSC Genome Browser:NM_000861, UniProtKB:P35367 No chr3 11178779 11304939 11137093 11263253 +PA29457 3274 HGNC:5183 ENSG00000113749 histamine receptor H2 HRH2 Yes Yes Comparative Toxicogenomics Database:3274, Ensembl:ENSG00000113749, GenAtlas:HRH2, GeneCard:HRH2, HGNC:HGNC:5183, HumanCyc Gene:HS03716, IUPHAR Receptor:263, ModBase:P25021, NCBI Gene:3274, OMIM:142703, RefSeq DNA:NT_023133, RefSeq Protein:NP_001124527, RefSeq Protein:NP_071640, RefSeq RNA:NM_001131055, RefSeq RNA:NM_022304, UCSC Genome Browser:NM_022304, UniProtKB:P25021, UniProtKB:Q7Z5R9 No chr5 175084847 175136239 175657762 175710756 +PA29458 11255 HGNC:5184 ENSG00000101180 histamine receptor H3 HRH3 GPCR97 Yes Yes Comparative Toxicogenomics Database:11255, Ensembl:ENSG00000101180, GenAtlas:HRH3, GeneCard:HRH3, HGNC:HGNC:5184, HumanCyc Gene:HS02208, IUPHAR Receptor:264, ModBase:Q9Y5N1, NCBI Gene:11255, OMIM:604525, RefSeq DNA:NT_011362, RefSeq Protein:NP_009163, RefSeq RNA:NM_007232, UCSC Genome Browser:NM_007232, UniProtKB:Q9Y5N1 No chr20 60790017 60795323 62213845 62220267 +PA134982275 59340 HGNC:17383 ENSG00000134489 histamine receptor H4 HRH4 AXOR35, GPCR105, GPRv53, H4R, HH4R Yes Yes Ensembl:ENSG00000134489, GeneCard:HRH4, HGNC:HGNC:17383, HumanCyc Gene:HS05877, IUPHAR Receptor:265, ModBase:Q9H3N8, NCBI Gene:59340, OMIM:606792, RefSeq DNA:NT_010966, RefSeq Protein:NP_001137300, RefSeq Protein:NP_001153638, RefSeq Protein:NP_067637, RefSeq RNA:NM_001143828, RefSeq RNA:NM_001160166, RefSeq RNA:NM_021624, UniProtKB:B2KJ48, UniProtKB:B2KJ49, UniProtKB:Q9H3N8 No chr18 22040593 22059921 24460568 24487427 +PA29459 8739 HGNC:5185 ENSG00000135116 harakiri, BCL2 interacting protein HRK """death protein 5"", ""harakiri, BCL2 interacting protein (contains only BH3 domain)""" DP5 Yes No Comparative Toxicogenomics Database:8739, Ensembl:ENSG00000135116, GenAtlas:HRK, GeneCard:HRK, HGNC:HGNC:5185, HumanCyc Gene:HS05958, NCBI Gene:8739, OMIM:603447, RefSeq DNA:NT_009775, RefSeq Protein:NP_003797, RefSeq RNA:NM_003806, UCSC Genome Browser:NM_003806, UniProtKB:O00198 No chr12 117298225 117319232 116856144 116881427 +PA134936141 388697 HGNC:20846 ENSG00000197915 hornerin HRNR filaggrin family member 3 FLG3, S100A16, S100a18 Yes No Ensembl:ENSG00000197915, GeneCard:HRNR, HGNC:HGNC:20846, ModBase:Q86YZ3, NCBI Gene:388697, RefSeq DNA:NT_004487, RefSeq Protein:NP_001009931, RefSeq RNA:NM_001009931, UniProtKB:Q86YZ3 No chr1 152184552 152196672 152212076 152224196 +PA166351920 78995 HGNC:28460 homologous recombination factor with OB-fold HROB C17orf53, MCM8IP, MGC3130 Yes No HGNC:HGNC:28460, NCBI Gene:78995 No 0 0 0 0 +PA166351921 120766137 HGNC:55085 HR upstream open reading frame HRURF U2HR Yes No HGNC:HGNC:55085, NCBI Gene:120766137 No 0 0 0 0 +PA162391602 64342 HGNC:24979 ENSG00000118960 HCLS1 binding protein 3 HS1BP3 FLJ14249, HS1-BP3 Yes No Ensembl:ENSG00000118960, GeneCard:HS1BP3, HGNC:HGNC:24979, HumanCyc Gene:HS04263, ModBase:Q53T59, NCBI Gene:64342, OMIM:609359, RefSeq DNA:NT_015926, RefSeq Protein:NP_071905, RefSeq RNA:NM_022460, UniProtKB:Q53T59, UniProtKB:Q9H7U7 No chr2 20817564 20850867 20553861 20651661 +PA29466 9653 HGNC:5193 ENSG00000153936 heparan sulfate 2-O-sulfotransferase 1 HS2ST1 KIAA0448 Yes No Ensembl:ENSG00000153936, GenAtlas:HS2ST1, GeneCard:HS2ST1, HGNC:HGNC:5193, HumanCyc Gene:HS07933, ModBase:Q7LGA3, NCBI Gene:9653, OMIM:604844, RefSeq DNA:NT_032977, RefSeq Protein:NP_001127964, RefSeq Protein:NP_036394, RefSeq RNA:NM_001134492, RefSeq RNA:NM_012262, UCSC Genome Browser:NM_012262, UniProtKB:Q7LGA3 No chr1 87380335 87575681 86914652 87109998 +PA29467 9957 HGNC:5194 ENSG00000002587 heparan sulfate-glucosamine 3-sulfotransferase 1 HS3ST1 heparan sulfate (glucosamine) 3-O-sulfotransferase 1 3OST1 Yes No Ensembl:ENSG00000002587, GenAtlas:HS3ST1, GeneCard:HS3ST1, HGNC:HGNC:5194, HumanCyc Gene:HS00082, ModBase:O14792, NCBI Gene:9957, OMIM:603244, RefSeq DNA:NT_006316, RefSeq Protein:NP_005105, RefSeq RNA:NM_005114, UCSC Genome Browser:NM_005114, UniProtKB:O14792 No chr4 11399988 11431255 11398364 11434398 +PA29468 9956 HGNC:5195 ENSG00000122254 heparan sulfate-glucosamine 3-sulfotransferase 2 HS3ST2 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 3OST2 Yes No Ensembl:ENSG00000122254, GenAtlas:HS3ST2, GeneCard:HS3ST2, HGNC:HGNC:5195, HumanCyc Gene:HS04557, ModBase:Q9Y278, NCBI Gene:9956, OMIM:604056, RefSeq DNA:NT_010393, RefSeq Protein:NP_006034, RefSeq RNA:NM_006043, UCSC Genome Browser:NM_006043, UniProtKB:Q9Y278 No chr16 22825860 22927659 22814162 22916338 +PA29469 9955 HGNC:5196 ENSG00000153976 heparan sulfate-glucosamine 3-sulfotransferase 3A1 HS3ST3A1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 30ST3A1, 3OST3A1 Yes No Comparative Toxicogenomics Database:9955, Ensembl:ENSG00000153976, GenAtlas:HS3ST3A1, GeneCard:HS3ST3A1, HGNC:HGNC:5196, HumanCyc Gene:HS07937, ModBase:Q9Y663, NCBI Gene:9955, OMIM:604057, RefSeq DNA:NT_010718, RefSeq Protein:NP_006033, RefSeq RNA:NM_006042, UCSC Genome Browser:NM_006042, UniProtKB:Q9Y663 No chr17 13399006 13505244 13494032 13601942 +PA29471 9953 HGNC:5198 ENSG00000125430 heparan sulfate-glucosamine 3-sulfotransferase 3B1 HS3ST3B1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 30ST3B1, 3OST3B1 Yes No Comparative Toxicogenomics Database:9953, Ensembl:ENSG00000125430, GenAtlas:HS3ST3B1, GeneCard:HS3ST3B1, HGNC:HGNC:5198, HumanCyc Gene:HS04884, ModBase:Q9Y662, NCBI Gene:9953, OMIM:604058, RefSeq DNA:NT_010718, RefSeq Protein:NP_006032, RefSeq RNA:NM_006041, UCSC Genome Browser:NM_006041, UniProtKB:Q9Y662 No chr17 14204367 14252721 14301050 14349404 +PA29473 9951 HGNC:5200 ENSG00000182601 heparan sulfate-glucosamine 3-sulfotransferase 4 HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 3OST4 Yes Yes Ensembl:ENSG00000182601, GenAtlas:HS3ST4, GeneCard:HS3ST4, HGNC:HGNC:5200, HumanCyc Gene:HS00062, ModBase:Q9Y661, NCBI Gene:9951, OMIM:604059, RefSeq DNA:NG_005591, RefSeq DNA:NT_010393, RefSeq Protein:NP_006031, RefSeq RNA:NM_006040, UniProtKB:Q9Y661 No chr16 25703347 26149009 25692026 26137688 +PA164741639 222537 HGNC:19419 ENSG00000249853 heparan sulfate-glucosamine 3-sulfotransferase 5 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 3-OST-5 Yes No Ensembl:ENSG00000249853, GeneCard:HS3ST5, HGNC:HGNC:19419, HumanCyc Gene:HS16520, ModBase:Q8IZT8, NCBI Gene:222537, OMIM:609407, RefSeq DNA:NT_025741, RefSeq Protein:NP_705840, RefSeq RNA:NM_153612, UniProtKB:Q8IZT8 No chr6 114376750 114663540 114055586 114342388 +PA29474 64711 HGNC:14178 ENSG00000162040 heparan sulfate-glucosamine 3-sulfotransferase 6 HS3ST6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 HS3ST5 Yes No Ensembl:ENSG00000162040, GeneCard:HS3ST6, HGNC:HGNC:14178, ModBase:Q96QI5, NCBI Gene:64711, RefSeq DNA:NT_010393, RefSeq Protein:NP_001009606, RefSeq RNA:NM_001009606, UniProtKB:C9JH64 No chr16 1961464 1968231 1911463 1921428 +PA35102 9394 HGNC:5201 ENSG00000136720 heparan sulfate 6-O-sulfotransferase 1 HS6ST1 HS6ST Yes No Comparative Toxicogenomics Database:9394, Ensembl:ENSG00000136720, GenAtlas:HS6ST1, GeneCard:HS6ST1, HGNC:HGNC:5201, HumanCyc Gene:HS06203, NCBI Gene:9394, OMIM:604846, RefSeq DNA:NT_022135, RefSeq Protein:NP_004798, RefSeq RNA:NM_004807, UCSC Genome Browser:NM_004807, UniProtKB:O60243 No chr2 129023054 129076171 128265480 128318597 +PA134901492 388605 HGNC:31835 ENSG00000187952 heparan sulfate 6-O-sulfotransferase 1 pseudogene 1 HS6ST1P1 Yes No Ensembl:ENSG00000187952, HGNC:HGNC:31835, NCBI Gene:388605, RefSeq DNA:NG_005670, RefSeq DNA:NT_004610 No chr1 21754761 21758727 21428268 21432234 +PA134950831 90161 HGNC:19133 ENSG00000171004 heparan sulfate 6-O-sulfotransferase 2 HS6ST2 HS6ST-2 Yes No Comparative Toxicogenomics Database:90161, Ensembl:ENSG00000171004, GeneCard:HS6ST2, HGNC:HGNC:19133, HumanCyc Gene:HS15941, HumanCyc Gene:HS17320, ModBase:Q96MM7, NCBI Gene:90161, OMIM:300545, RefSeq DNA:NG_012840, RefSeq DNA:NT_011786, RefSeq Protein:NP_001070656, RefSeq Protein:NP_671704, RefSeq RNA:NM_001077188, RefSeq RNA:NM_147175, UniProtKB:Q96MM7 No chrX 131760038 132095423 132626010 132961395 +PA134879312 266722 HGNC:19134 ENSG00000185352 heparan sulfate 6-O-sulfotransferase 3 HS6ST3 Yes Yes Ensembl:ENSG00000185352, GeneCard:HS6ST3, HGNC:HGNC:19134, ModBase:Q8IZP7, NCBI Gene:266722, OMIM:609401, RefSeq DNA:NT_009952, RefSeq Protein:NP_703157, RefSeq Protein:XP_002344784, RefSeq RNA:NM_153456, RefSeq RNA:XM_002344743, UniProtKB:B3KX95, UniProtKB:Q8IZP7 No chr13 96743093 97491816 96090634 96839562 +PA29475 3281 HGNC:5203 ENSG00000230989 heat shock factor binding protein 1 HSBP1 Yes No Comparative Toxicogenomics Database:3281, Ensembl:ENSG00000230989, GenAtlas:HSBP1, GeneCard:HSBP1, HGNC:HGNC:5203, HumanCyc Gene:HS09417, ModBase:O75506, NCBI Gene:3281, OMIM:604553, RefSeq DNA:NT_010498, RefSeq Protein:NP_001528, RefSeq RNA:NM_001537, UCSC Genome Browser:NM_001537, UniProtKB:O75506 No chr16 83841508 83846607 83807903 83813002 +PA165429036 440498 HGNC:37243 ENSG00000226742 heat shock factor binding protein 1 like 1 HSBP1L1 heat shock factor binding protein 1-like 1 FLJ10967, MGC189743 Yes No Ensembl:ENSG00000226742, GeneCard:HSBP1L1, HGNC:HGNC:37243, NCBI Gene:440498, RefSeq DNA:NT_025028, RefSeq Protein:NP_001129652, RefSeq RNA:NM_001136180, UniProtKB:C9JCN9 No chr18 77724582 77730822 79964582 79970822 +PA134968630 326296 HGNC:20053 ENSG00000258650 heat shock factor binding protein 1 pseudogene 1 HSBP1P1 Yes No Ensembl:ENSG00000258650, GeneCard:HSBP1P1, HGNC:HGNC:20053, NCBI Gene:326296, RefSeq DNA:NG_002548, RefSeq DNA:NT_026437 No chr14 58930607 58931127 58463889 58464409 +PA162391621 150274 HGNC:28913 ENSG00000100209 HscB mitochondrial iron-sulfur cluster cochaperone HSCB """DnaJ (Hsp40) homolog, subfamily C, member 20"", ""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"", ""HscB mitochondrial iron-sulfur cluster co-chaperone""" DNAJC20, HSC20, Jac1 Yes No Ensembl:ENSG00000100209, GeneCard:HSCB, HGNC:HGNC:28913, HumanCyc Gene:HS02001, ModBase:Q8IWL3, NCBI Gene:150274, OMIM:608142, RefSeq DNA:NT_011520, RefSeq Protein:NP_741999, RefSeq RNA:NM_172002, UniProtKB:Q8IWL3 No chr22 29138008 29153506 28741992 28757518 +PA29476 3290 HGNC:5208 ENSG00000117594 hydroxysteroid 11-beta dehydrogenase 1 HSD11B1 """hydroxysteroid (11-beta) dehydrogenase 1"", ""short chain dehydrogenase/reductase family 26C, member 1""" HSD11, HSD11B, SDR26C1 Yes Yes Comparative Toxicogenomics Database:3290, Ensembl:ENSG00000117594, GenAtlas:HSD11B1, GeneCard:HSD11B1, HGNC:HGNC:5208, HumanCyc Gene:HS04154, ModBase:P28845, NCBI Gene:3290, OMIM:600713, OMIM:604931, RefSeq DNA:NG_012081, RefSeq DNA:NT_167186, RefSeq Protein:NP_001193670, RefSeq Protein:NP_005516, RefSeq Protein:NP_861420, RefSeq RNA:NM_001206741, RefSeq RNA:NM_005525, RefSeq RNA:NM_181755, UCSC Genome Browser:NM_005525, UniProtKB:P28845 No chr1 209859525 209908295 209686180 209734950 +PA144596423 374875 HGNC:30419 ENSG00000167733 hydroxysteroid 11-beta dehydrogenase 1 like HSD11B1L """hydroxysteroid (11-beta) dehydrogenase 1-like"", ""short chain dehydrogenase/reductase 10"", ""short chain dehydrogenase/reductase family 26C, member 2""" HSD1L, SCDR10, SDR26C2 Yes No Ensembl:ENSG00000167733, GeneCard:HSD11B1L, HGNC:HGNC:30419, ModBase:Q7Z5P8, NCBI Gene:374875, RefSeq DNA:NT_011255, RefSeq Protein:NP_940935, RefSeq Protein:NP_941993, RefSeq Protein:NP_941994, RefSeq Protein:NP_941995, RefSeq Protein:NP_941996, RefSeq Protein:NP_941997, RefSeq RNA:NM_198533, RefSeq RNA:NM_198704, RefSeq RNA:NM_198705, RefSeq RNA:NM_198706, RefSeq RNA:NM_198707, RefSeq RNA:NM_198708, UniProtKB:Q7Z5J1 No chr19 5680776 5688534 5680765 5688523 +PA29477 3291 HGNC:5209 ENSG00000176387 hydroxysteroid 11-beta dehydrogenase 2 HSD11B2 """hydroxysteroid (11-beta) dehydrogenase 2"", ""short chain dehydrogenase/reductase family 9C, member 3""" SDR9C3 Yes No Comparative Toxicogenomics Database:3291, Ensembl:ENSG00000176387, GenAtlas:HSD11B2, GeneCard:HSD11B2, HGNC:HGNC:5209, HumanCyc Gene:HS11043, ModBase:P80365, NCBI Gene:3291, OMIM:218030, RefSeq DNA:NG_016549, RefSeq DNA:NT_010498, RefSeq Protein:NP_000187, RefSeq RNA:NM_000196, UCSC Genome Browser:NM_000196, UniProtKB:P80365 No chr16 67465036 67471456 67431133 67437553 +PA29478 3292 HGNC:5210 ENSG00000108786 hydroxysteroid 17-beta dehydrogenase 1 HSD17B1 """Estradiol 17-beta-dehydrogenase-1"", ""hydroxysteroid (17-beta) dehydrogenase 1"", ""short chain dehydrogenase/reductase family 28CE, member 1""" EDH17B2, EDHB17, HSD17, MGC138140, SDR28C1 Yes No Comparative Toxicogenomics Database:3292, Ensembl:ENSG00000108786, GenAtlas:HSD17B1, GeneCard:HSD17B1, HGNC:HGNC:5210, HumanCyc Gene:HS03155, ModBase:P14061, NCBI Gene:3292, OMIM:109684, RefSeq DNA:NT_010783, RefSeq Protein:NP_000404, RefSeq RNA:NM_000413, UCSC Genome Browser:NM_000413, UniProtKB:P14061 No chr17 40703984 40707232 42551966 42555214 +PA162391638 3028 HGNC:4800 ENSG00000072506 hydroxysteroid 17-beta dehydrogenase 10 HSD17B10 """AB-binding alcohol dehydrogenase"", ""hydroxysteroid (17-beta) dehydrogenase 10"", ""mitochondrial RNase P subunit 2"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase""" 17b-HSD10, ABAD, CAMR, ERAB, HADH2, MHBD, MRPP2, MRXS10, SDR5C1 Yes No Ensembl:ENSG00000072506, GeneCard:HSD17B10, HGNC:HGNC:4800, HumanCyc Gene:HS01071, ModBase:Q99714, NCBI Gene:3028, OMIM:300220, OMIM:300256, OMIM:300438, OMIM:300705, RefSeq DNA:NG_008153, RefSeq DNA:NT_011630, RefSeq Protein:NP_001032900, RefSeq Protein:NP_004484, RefSeq RNA:NM_001037811, RefSeq RNA:NM_004493, UniProtKB:Q6IBS9, UniProtKB:Q99714 No chrX 53458206 53461323 53431258 53434376 +PA162391655 51170 HGNC:22960 ENSG00000198189 hydroxysteroid 17-beta dehydrogenase 11 HSD17B11 """hydroxysteroid (17-beta) dehydrogenase 11"", ""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2""" 17-BETA-HSD11, 17-BETA-HSDXI, DHRS8, PAN1B, RetSDR2, SDR16C2 Yes No Ensembl:ENSG00000198189, GeneCard:HSD17B11, HGNC:HGNC:22960, HumanCyc Gene:HS11363, ModBase:Q8NBQ5, NCBI Gene:51170, OMIM:612831, RefSeq DNA:NT_016354, RefSeq Protein:NP_057329, RefSeq RNA:NM_016245, UniProtKB:Q8NBQ5 No chr4 88257691 88312455 87336522 87391303 +PA38618 51144 HGNC:18646 ENSG00000149084 hydroxysteroid 17-beta dehydrogenase 12 HSD17B12 """3-ketoacyl-CoA reductase"", ""hydroxysteroid (17-beta) dehydrogenase 12"", ""short chain dehydrogenase/reductase family 12C, member 1""" KAR, SDR12C1 Yes No Comparative Toxicogenomics Database:51144, Ensembl:ENSG00000149084, GenAtlas:HSD17B12, GeneCard:HSD17B12, HGNC:HGNC:18646, HumanCyc Gene:HS07581, ModBase:Q53GQ0, NCBI Gene:51144, OMIM:609574, RefSeq DNA:NT_009237, RefSeq Protein:NP_057226, RefSeq RNA:NM_016142, UCSC Genome Browser:NM_016142, UniProtKB:Q53GQ0 No chr11 43702108 43878169 43680593 43856619 +PA38634 345275 HGNC:18685 ENSG00000170509 hydroxysteroid 17-beta dehydrogenase 13 HSD17B13 """hydroxysteroid (17-beta) dehydrogenase 13"", ""short chain dehydrogenase/reductase family 16C, member 3""" SCDR9, SDR16C3 Yes No Comparative Toxicogenomics Database:345275, Ensembl:ENSG00000170509, GenAtlas:HSD17B13, GeneCard:HSD17B13, HGNC:HGNC:18685, ModBase:Q7Z5P4, NCBI Gene:345275, OMIM:612127, RefSeq DNA:NT_016354, RefSeq Protein:NP_001129702, RefSeq Protein:NP_835236, RefSeq RNA:NM_001136230, RefSeq RNA:NM_178135, UniProtKB:Q7Z5P4 No chr4 88224941 88244056 87303789 87322906 +PA162391674 51171 HGNC:23238 ENSG00000087076 hydroxysteroid 17-beta dehydrogenase 14 HSD17B14 """hydroxysteroid (17-beta) dehydrogenase 14"", ""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1""" DHRS10, SDR47C1, retSDR3 Yes No Ensembl:ENSG00000087076, GeneCard:HSD17B14, HGNC:HGNC:23238, HumanCyc Gene:HS01550, ModBase:Q9BPX1, NCBI Gene:51171, OMIM:612832, RefSeq DNA:NT_011109, RefSeq Protein:NP_057330, RefSeq RNA:NM_016246, UniProtKB:Q9BPX1 No chr19 49316274 49339935 48813014 48836688 +PA29485 643646 HGNC:5216 ENSG00000108785 hydroxysteroid (17-beta) dehydrogenase 1 pseudogene 1 HSD17B1P1 SDR28C1P1 Yes No Ensembl:ENSG00000108785, GenAtlas:HSD17BP1, GeneCard:HSD17B1P1, HGNC:HGNC:5216, NCBI Gene:643646, RefSeq DNA:NG_006749, RefSeq DNA:NG_011552, RefSeq DNA:NT_010755 No chr17 40697797 40700993 42545779 42548975 +PA29479 3294 HGNC:5211 ENSG00000086696 hydroxysteroid 17-beta dehydrogenase 2 HSD17B2 """hydroxysteroid (17-beta) dehydrogenase 2"", ""short chain dehydrogenase/reductase family 9C, member 2""" HSD17, SDR9C2 Yes No Comparative Toxicogenomics Database:3294, Ensembl:ENSG00000086696, GenAtlas:HSD17B2, GeneCard:HSD17B2, HGNC:HGNC:5211, HumanCyc Gene:HS01540, ModBase:P37059, NCBI Gene:3294, OMIM:109685, RefSeq DNA:NT_010498, RefSeq Protein:NP_002144, RefSeq RNA:NM_002153, UCSC Genome Browser:NM_002153, UniProtKB:P37059 No chr16 82068842 82132139 82035237 82098534 +PA29480 3293 HGNC:5212 ENSG00000130948 hydroxysteroid 17-beta dehydrogenase 3 HSD17B3 """hydroxysteroid (17-beta) dehydrogenase 3"", ""short chain dehydrogenase/reductase family 12C, member 2""" SDR12C2 Yes No Comparative Toxicogenomics Database:3293, Ensembl:ENSG00000130948, GenAtlas:HSD17B3, GeneCard:HSD17B3, HGNC:HGNC:5212, HumanCyc Gene:HS05461, ModBase:P37058, NCBI Gene:3293, OMIM:264300, OMIM:605573, RefSeq DNA:NG_008157, RefSeq DNA:NT_008470, RefSeq Protein:NP_000188, RefSeq RNA:NM_000197, UCSC Genome Browser:NM_000197, UniProtKB:P37058, UniProtKB:Q6FH62 No chr9 98997588 99064662 96235306 96313987 +PA29481 3295 HGNC:5213 ENSG00000133835 hydroxysteroid 17-beta dehydrogenase 4 HSD17B4 """17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""17beta-estradiol dehydrogenase type IV"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""D-3-hydroxyacyl-CoA dehydratase"", ""D-bifunctional protein, peroxisomal"", ""beta-hydroxyacyl dehydrogenase"", ""beta-keto-reductase"", ""hydroxysteroid (17-beta) dehydrogenase 4"", ""peroxisomal multifunctional protein 2"", ""short chain dehydrogenase/reductase family 8C, member 1""" DBP, MFE-2, SDR8C1 Yes No Comparative Toxicogenomics Database:3295, Ensembl:ENSG00000133835, GenAtlas:HSD17B4, GeneCard:HSD17B4, HGNC:HGNC:5213, HumanCyc Gene:HS05792, ModBase:P51659, NCBI Gene:3295, OMIM:261515, OMIM:601860, RefSeq DNA:NG_008182, RefSeq DNA:NT_034772, RefSeq Protein:NP_000405, RefSeq Protein:NP_001186220, RefSeq Protein:NP_001186221, RefSeq RNA:NM_000414, RefSeq RNA:NM_001199291, RefSeq RNA:NM_001199292, UCSC Genome Browser:NM_000414, UniProtKB:P51659 No chr5 118788138 118878030 119452443 119542335 +PA142671671 8630 HGNC:23316 ENSG00000025423 hydroxysteroid 17-beta dehydrogenase 6 HSD17B6 """3(alpha->beta)-hydroxysteroid epimerasel"", ""3-hydroxysteroid epimerase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""hydroxysteroid (17-beta) dehydrogenase 6"", ""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""oxidoreductase"", ""retinol dehydrogenase"", ""short chain dehydrogenase/reductase family 9C, member 6""" HSE, RODH, SDR9C6 Yes No Comparative Toxicogenomics Database:8630, Ensembl:ENSG00000025423, GeneCard:HSD17B6, HGNC:HGNC:23316, HumanCyc Gene:HS00440, ModBase:O14756, NCBI Gene:8630, OMIM:606623, RefSeq DNA:NT_029419, RefSeq Protein:NP_003716, RefSeq RNA:NM_003725, UniProtKB:O14756 No chr12 57146237 57181574 56752449 56787790 +PA29483 51478 HGNC:5215 ENSG00000132196 hydroxysteroid 17-beta dehydrogenase 7 HSD17B7 """hydroxysteroid (17-beta) dehydrogenase 7"", ""short chain dehydrogenase/reductase family 37C, member 1""" PRAP, SDR37C1 Yes No Comparative Toxicogenomics Database:51478, Ensembl:ENSG00000132196, GenAtlas:HSD17B7, GeneCard:HSD17B7, HGNC:HGNC:5215, HumanCyc Gene:HS05604, ModBase:P56937, NCBI Gene:51478, OMIM:606756, RefSeq DNA:NT_004487, RefSeq Protein:NP_057455, RefSeq RNA:NM_016371, UCSC Genome Browser:NM_016371, UniProtKB:P56937 No chr1 162760496 162782608 162790702 162812818 +PA38637 148818 HGNC:18689 ENSG00000232908 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 1 HSD17B7P1 Yes No Ensembl:ENSG00000232908, GenAtlas:HSD17B7P1, GeneCard:HSD17B7P1, HGNC:HGNC:18689, NCBI Gene:148818, RefSeq DNA:NG_001308, RefSeq DNA:NT_167186 No chr1 247990766 247992047 247827464 247828745 +PA134967486 158160 HGNC:28120 ENSG00000099251 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 HSD17B7P2 HSD17B7, bA291L22.1 Yes No Ensembl:ENSG00000099251, GeneCard:HSD17B7P2, HGNC:HGNC:28120, NCBI Gene:158160, RefSeq DNA:NT_008705, RefSeq RNA:NR_003086 No chr10 38645308 38667433 38356380 38378505 +PA29484 7923 HGNC:3554 ENSG00000112474, ENSG00000204228, ENSG00000225312, ENSG00000228357, ENSG00000228712, ENSG00000232357 hydroxysteroid 17-beta dehydrogenase 8 HSD17B8 """hydroxysteroid (17-beta) dehydrogenase 8"", ""short chain dehydrogenase/reductase family 30C, member 1""" D6S2245E, FABGL, H2-KE6, HKE6, KE6, RING2, SDR30C1 Yes No Comparative Toxicogenomics Database:7923, Ensembl:ENSG00000112474, Ensembl:ENSG00000204228, Ensembl:ENSG00000225312, Ensembl:ENSG00000228357, Ensembl:ENSG00000228712, Ensembl:ENSG00000232357, GenAtlas:HSD17B8, GeneCard:HSD17B8, HGNC:HGNC:3554, HumanCyc Gene:HS03575, ModBase:Q92506, NCBI Gene:7923, OMIM:601417, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_055049, RefSeq RNA:NM_014234, UCSC Genome Browser:NM_014234, UniProtKB:Q92506 No chr6 33172414 33174608 33204637 33206831 +PA29486 3283 HGNC:5217 ENSG00000203857 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 HSD3B1 short chain dehydrogenase/reductase family 11E, member 1 HSD3B, HSDB3, SDR11E1 Yes Yes Comparative Toxicogenomics Database:3283, Ensembl:ENSG00000203857, GenAtlas:HSD3B1, GeneCard:HSD3B1, HGNC:HGNC:5217, HumanCyc Gene:HS08829, ModBase:P14060, NCBI Gene:3283, OMIM:109715, RefSeq DNA:NT_032977, RefSeq Protein:NP_000853, RefSeq RNA:NM_000862, UCSC Genome Browser:NM_000862, UniProtKB:P14060 No chr1 120049826 120057681 119507112 119515060 +PA29487 3284 HGNC:5218 ENSG00000203859 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 HSD3B2 short chain dehydrogenase/reductase family 11E, member 2 SDR11E2 Yes No Comparative Toxicogenomics Database:3284, Ensembl:ENSG00000203859, GenAtlas:HSD3B2, GeneCard:HSD3B2, HGNC:HGNC:5218, HumanCyc Gene:HS10943, ModBase:P26439, NCBI Gene:3284, OMIM:201810, RefSeq DNA:NG_013349, RefSeq DNA:NT_032977, RefSeq Protein:NP_000189, RefSeq Protein:NP_001159592, RefSeq RNA:NM_000198, RefSeq RNA:NM_001166120, UCSC Genome Browser:NM_000198, UniProtKB:P26439 No chr1 119957554 119965662 119414931 119423039 +PA134940289 80270 HGNC:18324 ENSG00000099377 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 HSD3B7 short chain dehydrogenase/reductase family 11E, member 3 C(27)-3BETA-HSD, SDR11E3 Yes No Comparative Toxicogenomics Database:80270, Ensembl:ENSG00000099377, GeneCard:HSD3B7, HGNC:HGNC:18324, HumanCyc Gene:HS01893, ModBase:Q9H2F3, NCBI Gene:80270, OMIM:607764, OMIM:607765, RefSeq DNA:NG_012346, RefSeq DNA:NT_010393, RefSeq Protein:NP_001136249, RefSeq Protein:NP_001136250, RefSeq Protein:NP_079469, RefSeq RNA:NM_001142777, RefSeq RNA:NM_001142778, RefSeq RNA:NM_025193, UniProtKB:Q96M28, UniProtKB:Q9H2F3 No chr16 30995949 31000473 30985189 30989152 +PA29488 391076 HGNC:5219 ENSG00000187481 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 1 HSD3BP1 Yes No Ensembl:ENSG00000187481, GenAtlas:HSD3BP1, GeneCard:HSD3BP1, HGNC:HGNC:5219, NCBI Gene:391076 No chr1 120009838 120016423 119467134 119473999 +PA29489 440606 HGNC:5220 ENSG00000203858 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 2 HSD3BP2 Yes No Ensembl:ENSG00000203858, GenAtlas:HSD3BP2, GeneCard:HSD3BP2, HGNC:HGNC:5220, NCBI Gene:440606 No chr1 119981151 119989129 119438528 119446506 +PA29490 441900 HGNC:5221 ENSG00000249798 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 3 HSD3BP3 Yes No Ensembl:ENSG00000249798, GenAtlas:HSD3BP3, GeneCard:HSD3BP3, HGNC:HGNC:5221, NCBI Gene:441900 No chr1 120081132 120088711 119538509 119546088 +PA29491 128102 HGNC:5222 ENSG00000203855 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 HSD3BP4 Yes No Ensembl:ENSG00000203855, GenAtlas:HSD3BP4, GeneCard:HSD3BP4, HGNC:HGNC:5222, NCBI Gene:128102 No chr1 120106503 120115199 119563880 119572576 +PA29492 391081 HGNC:5223 ENSG00000198857 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 5 HSD3BP5 Yes No Ensembl:ENSG00000198857, GenAtlas:HSD3BP5, GeneCard:HSD3BP5, HGNC:HGNC:5223, NCBI Gene:391081 No chr1 120143876 120152072 119601253 119609449 +PA134988345 83693 HGNC:16475 ENSG00000103160 hydroxysteroid dehydrogenase like 1 HSDL1 short chain dehydrogenase/reductase family 12C, member 3 SDR12C3 Yes No Comparative Toxicogenomics Database:83693, Ensembl:ENSG00000103160, GeneCard:HSDL1, HGNC:HGNC:16475, HumanCyc Gene:HS02462, ModBase:Q3SXM5, NCBI Gene:83693, RefSeq DNA:NT_010498, RefSeq Protein:NP_001139523, RefSeq Protein:NP_113651, RefSeq RNA:NM_001146051, RefSeq RNA:NM_031463, UniProtKB:B4DSL2, UniProtKB:Q3SXM5 No chr16 84155744 84178800 84122139 84145195 +PA134980105 84263 HGNC:18572 ENSG00000119471 hydroxysteroid dehydrogenase like 2 HSDL2 short chain dehydrogenase/reductase family 13C, member 1 C9orf99, SDR13C1 Yes No Ensembl:ENSG00000119471, GeneCard:HSDL2, HGNC:HGNC:18572, HumanCyc Gene:HS04301, ModBase:Q6YN16, NCBI Gene:84263, RefSeq DNA:NT_008470, RefSeq Protein:NP_001182751, RefSeq Protein:NP_115679, RefSeq RNA:NM_001195822, RefSeq RNA:NM_032303, RefSeq RNA:NR_036651, UniProtKB:Q6YN16 No chr9 115142189 115234685 112379292 112472410 +PA29493 3297 HGNC:5224 ENSG00000185122 heat shock transcription factor 1 HSF1 HSTF1 Yes No Comparative Toxicogenomics Database:3297, Ensembl:ENSG00000185122, GenAtlas:HSF1, GeneCard:HSF1, HGNC:HGNC:5224, ModBase:Q00613, NCBI Gene:3297, OMIM:140580, RefSeq DNA:NT_037704, RefSeq Protein:NP_005517, RefSeq RNA:NM_005526, UCSC Genome Browser:NM_005526, UniProtKB:Q00613 No chr8 145515270 145538385 144291588 144314722 +PA29494 3298 HGNC:5225 ENSG00000025156 heat shock transcription factor 2 HSF2 Yes No Comparative Toxicogenomics Database:3298, Ensembl:ENSG00000025156, GenAtlas:HSF2, GeneCard:HSF2, HGNC:HGNC:5225, HumanCyc Gene:HS00438, ModBase:Q03933, NCBI Gene:3298, OMIM:140581, RefSeq DNA:NT_025741, RefSeq Protein:NP_001129036, RefSeq Protein:NP_004497, RefSeq RNA:NM_001135564, RefSeq RNA:NM_004506, UCSC Genome Browser:NM_004506, UniProtKB:B4DGJ4, UniProtKB:Q03933, UniProtKB:Q0VAH9 No chr6 122720696 122754264 122399551 122433119 +PA29495 11077 HGNC:5226 ENSG00000160207 heat shock transcription factor 2 binding protein HSF2BP heat shock factor 2 binding protein, meiotic localizer of BRCA2 MEILB2 Yes No Ensembl:ENSG00000160207, GenAtlas:HSF2BP, GeneCard:HSF2BP, HGNC:HGNC:5226, HumanCyc Gene:HS08464, ModBase:O75031, NCBI Gene:11077, OMIM:604554, RefSeq DNA:NG_011491, RefSeq DNA:NT_011515, RefSeq Protein:NP_008962, RefSeq RNA:NM_007031, UCSC Genome Browser:NM_007031, UniProtKB:O75031, UniProtKB:Q6IAT7 No chr21 44949066 45079380 43453987 43659499 +PA29496 3299 HGNC:5227 ENSG00000102878 heat shock transcription factor 4 HSF4 CTM Yes No Comparative Toxicogenomics Database:3299, Ensembl:ENSG00000102878, GenAtlas:HSF4, GeneCard:HSF4, HGNC:HGNC:5227, HumanCyc Gene:HS02419, ModBase:Q9ULV5, NCBI Gene:3299, OMIM:116800, OMIM:602438, RefSeq DNA:NG_009294, RefSeq DNA:NT_010498, RefSeq Protein:NP_001035757, RefSeq Protein:NP_001529, RefSeq RNA:NM_001040667, RefSeq RNA:NM_001538, UCSC Genome Browser:NM_001538, UniProtKB:Q9ULV5 No chr16 67197288 67203848 67163385 67169945 +PA145008204 124535 HGNC:26862 ENSG00000176160 heat shock transcription factor 5 HSF5 heat shock transcription factor family member 5 FLJ40311 Yes No Ensembl:ENSG00000176160, GeneCard:HSF5, HGNC:HGNC:26862, HumanCyc Gene:HS16602, ModBase:Q4G112, NCBI Gene:124535, RefSeq DNA:NT_010783, RefSeq Protein:NP_001073908, RefSeq RNA:NM_001080439, UniProtKB:Q4G112 No chr17 56497528 56565759 58420167 58488401 +PA145008220 100506164 HGNC:29603 ENSG00000171116, ENSG00000171129 heat shock transcription factor family, X-linked 1 HSFX1 heat shock transcription factor family, X linked 1 LW-1 Yes No Ensembl:ENSG00000171116, Ensembl:ENSG00000171129, GeneCard:HSFX1, HGNC:HGNC:29603, HumanCyc Gene:HS10246, HumanCyc Gene:HS10252, NCBI Gene:100506164, RefSeq DNA:NT_011681, RefSeq Protein:NP_057237, RefSeq RNA:NM_016153, UniProtKB:Q9UBD0 No chrX 148855726 148858517 149774068 149776859 +PA145008228 100130086 HGNC:32701 ENSG00000268738 heat shock transcription factor family, X-linked 2 HSFX2 heat shock transcription factor family, X linked 2 Yes No Ensembl:ENSG00000268738, GeneCard:HSFX2, HGNC:HGNC:32701, ModBase:Q9UBD0, NCBI Gene:100130086, RefSeq DNA:NT_011681, RefSeq Protein:NP_001157887, RefSeq Protein:XP_001713765, RefSeq RNA:NM_001164415, RefSeq RNA:XM_001713713 No chrX 148674172 148676974 149592512 149595310 +PA166181544 101928917 HGNC:52395 ENSG00000283697 heat shock transcription factor family, X-linked member 3 HSFX3 Yes No Ensembl:ENSG00000283697, HGNC:HGNC:52395, NCBI Gene:101928917 No 0 0 0 0 +PA166181545 101927685 HGNC:52398 ENSG00000283463 heat shock transcription factor family, X-linked member 4 HSFX4 Yes No Ensembl:ENSG00000283463, HGNC:HGNC:52398, NCBI Gene:101927685 No 0 0 0 0 +PA38580 86614 HGNC:18568 ENSG00000169953, ENSG00000172468 heat shock transcription factor Y-linked 1 HSFY1 heat shock transcription factor, Y-linked 1 HSF2L, HSFY Yes No Ensembl:ENSG00000169953, Ensembl:ENSG00000172468, GenAtlas:HSFY1, GeneCard:HSFY1, HGNC:HGNC:18568, HumanCyc Gene:HS10042, HumanCyc Gene:HS10524, NCBI Gene:86614, OMIM:400029, RefSeq DNA:NG_012030, RefSeq DNA:NT_011875, RefSeq Protein:NP_149099, RefSeq Protein:NP_689797, RefSeq RNA:NM_033108, RefSeq RNA:NM_152584, RefSeq RNA:NR_003510, UCSC Genome Browser:NM_033108, UniProtKB:Q96LI6 No chrY 20708574 20750849 18529679 18588963 +PA26389 27437 HGNC:1846 ENSG00000229027 heat shock transcription factor, Y-linked 1 pseudogene 1 HSFY1P1 HSFYL1, HSFYP1 Yes No Ensembl:ENSG00000229027, GenAtlas:CECR8, GeneCard:HSFY1P1, HGNC:HGNC:1846, NCBI Gene:27437, RefSeq DNA:NT_011519, RefSeq RNA:NR_003607 No chr22 17308364 17310225 16827474 16829335 +PA134894795 159119 HGNC:23950 ENSG00000169953 heat shock transcription factor Y-linked 2 HSFY2 heat shock transcription factor, Y linked 2 FLJ25453 Yes No Ensembl:ENSG00000169953, GeneCard:HSFY2, HGNC:HGNC:23950, NCBI Gene:159119, RefSeq DNA:NT_011875, RefSeq Protein:NP_001001877, RefSeq Protein:NP_714927, RefSeq RNA:NM_001001877, RefSeq RNA:NM_153716, RefSeq RNA:NR_003509 No chrY 20893326 20935621 18731440 18790733 +PA165791433 HGNC:38789 heat shock transcription factor, Y linked 5, pseudogene HSFY5P Yes No HGNC:HGNC:38789 No +PA165791434 HGNC:38790 heat shock transcription factor, Y linked 6, pseudogene HSFY6P Yes No HGNC:HGNC:38790 No +PA165791435 HGNC:38791 heat shock transcription factor, Y linked 7, pseudogene HSFY7P Yes No HGNC:HGNC:38791 No +PA165791436 HGNC:38792 heat shock transcription factor, Y linked 8, pseudogene HSFY8P Yes No HGNC:HGNC:38792 No +PA134927763 84941 HGNC:24920 ENSG00000196684 hematopoietic SH2 domain containing HSH2D ALX, FLJ14886, HSH2 Yes No Ensembl:ENSG00000196684, GeneCard:HSH2D, HGNC:HGNC:24920, HumanCyc Gene:HS05513, ModBase:Q96JZ2, NCBI Gene:84941, OMIM:608349, RefSeq DNA:NT_011295, RefSeq Protein:NP_116244, RefSeq RNA:NM_032855, UniProtKB:Q96JZ2 No chr19 16244838 16269381 16134028 16158575 +PA29519 3320 HGNC:5253 ENSG00000080824 heat shock protein 90 alpha family class A member 1 HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 FLJ31884, HSP90N, HSPC1, HSPCA, HSPCAL4, Hsp89, Hsp90 Yes No Comparative Toxicogenomics Database:3320, Ensembl:ENSG00000080824, GenAtlas:HSP90AA1, GeneCard:HSP90AA1, HGNC:HGNC:5253, HumanCyc Gene:HS01372, ModBase:P07900, NCBI Gene:3320, OMIM:140571, RefSeq DNA:NT_026437, RefSeq Protein:NP_001017963, RefSeq Protein:NP_005339, RefSeq RNA:NM_001017963, RefSeq RNA:NM_005348, UCSC Genome Browser:NM_005348, UniProtKB:P07900, UniProtKB:Q86SX1 No chr14 102547075 102606086 102080738 102139749 +PA29520 3322 HGNC:5254 ENSG00000231434 heat shock protein 90kDa alpha (cytosolic), class A member 3, pseudogene HSP90AA3P Yes No Ensembl:ENSG00000231434, GenAtlas:HSP90AA3P, GeneCard:HSP90AA3P, HGNC:HGNC:5254, NCBI Gene:3322, RefSeq DNA:NG_005218, RefSeq DNA:NT_004487 No chr1 158493403 158496270 158523613 158526480 +PA29521 3323 HGNC:5255 ENSG00000205100 heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene HSP90AA4P Yes No Ensembl:ENSG00000205100, GenAtlas:HSP90AA4P, GeneCard:HSP90AA4P, HGNC:HGNC:5255, NCBI Gene:3323, RefSeq DNA:NG_003014, RefSeq DNA:NT_016354, RefSeq RNA:NR_036692 No chr4 190394060 190397007 189472906 189475853 +PA143485493 730211 HGNC:32535 ENSG00000205955 heat shock protein 90kDa alpha (cytosolic), class A member 5, pseudogene HSP90AA5P Yes No Ensembl:ENSG00000205955, GeneCard:HSP90AA5P, HGNC:HGNC:32535, NCBI Gene:730211, RefSeq DNA:NG_005673, RefSeq DNA:NT_005612 No chr3 183833630 183835791 184115842 184118003 +PA143485494 441051 HGNC:32536 ENSG00000181359 heat shock protein 90kDa alpha (cytosolic), class A member 6, pseudogene HSP90AA6P Yes No Ensembl:ENSG00000181359, GeneCard:HSP90AA6P, HGNC:HGNC:32536, NCBI Gene:441051, RefSeq DNA:NG_005677, RefSeq DNA:NT_016354, RefSeq RNA:NR_036751 No chr4 171525866 171535277 170604715 170605458 +PA29524 3326 HGNC:5258 ENSG00000096384 heat shock protein 90 alpha family class B member 1 HSP90AB1 heat shock protein 90kDa alpha (cytosolic), class B member 1 HSPC2, HSPCB Yes Yes Comparative Toxicogenomics Database:3326, Ensembl:ENSG00000096384, GenAtlas:HSP90AB1, GeneCard:HSP90AB1, HGNC:HGNC:5258, HumanCyc Gene:HS01859, ModBase:P08238, NCBI Gene:3326, OMIM:140572, RefSeq DNA:NT_007592, RefSeq Protein:NP_031381, RefSeq RNA:NM_007355, UCSC Genome Browser:NM_007355, UniProtKB:P08238 No chr6 44213903 44221625 44246166 44253888 +PA143485495 391634 HGNC:32537 ENSG00000205940 heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene HSP90AB2P HSP90BB Yes No Ensembl:ENSG00000205940, GeneCard:HSP90AB2P, HGNC:HGNC:32537, NCBI Gene:391634, RefSeq DNA:NT_006316, RefSeq RNA:NR_003132 No chr4 13338022 13340549 13336387 13338931 +PA29525 3327 HGNC:5259 ENSG00000183199 heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene HSP90AB3P Yes No Ensembl:ENSG00000183199, GenAtlas:HSP90AB3P, GeneCard:HSP90AB3P, HGNC:HGNC:5259, NCBI Gene:3327, RefSeq DNA:NG_003015, RefSeq DNA:NT_016354, RefSeq RNA:NR_036694 No chr4 88812911 88815434 87891748 87894288 +PA143485496 664618 HGNC:32538 ENSG00000282100 heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene HSP90AB4P Yes No Ensembl:ENSG00000282100, GeneCard:HSP90AB4P, HGNC:HGNC:32538, ModBase:Q58FF6, NCBI Gene:664618, RefSeq DNA:NT_010194, RefSeq RNA:NR_002927 No chr15 58982650 58985478 58690473 58693607 +PA143485497 442083 HGNC:32539 heat shock protein 90kDa alpha (cytosolic), class B member 5, pseudogene HSP90AB5P Yes No GeneCard:HSP90AB5P, HGNC:HGNC:32539, NCBI Gene:442083, RefSeq DNA:NG_005680, RefSeq DNA:NT_022459 No chr3 74150457 74152975 74101347 74103828 +PA143485498 541611 HGNC:32540 ENSG00000235137 heat shock protein 90kDa alpha (cytosolic), class B member 6, pseudogene HSP90AB6P Yes No Ensembl:ENSG00000235137, GeneCard:HSP90AB6P, HGNC:HGNC:32540, NCBI Gene:541611, RefSeq DNA:NG_005682, RefSeq DNA:NT_009952 No chr13 97535672 97538121 96883419 96885868 +PA36705 7184 HGNC:12028 ENSG00000166598 heat shock protein 90 beta family member 1 HSP90B1 """endoplasmin"", ""heat shock protein 90kDa beta (Grp94), member 1""" GP96, GRP94, TRA1 Yes No Comparative Toxicogenomics Database:7184, Ensembl:ENSG00000166598, GenAtlas:HSP90B1, GeneCard:HSP90B1, HGNC:HGNC:12028, HumanCyc Gene:HS09426, ModBase:P14625, NCBI Gene:7184, OMIM:191175, RefSeq DNA:NT_029419, RefSeq Protein:NP_003290, RefSeq RNA:NM_003299, UCSC Genome Browser:NM_003299, UniProtKB:P14625 No chr12 104324112 104341708 103930334 103947930 +PA134913415 7190 HGNC:12099 ENSG00000259706 heat shock protein 90kDa beta (Grp94), member 2, pseudogene HSP90B2P GRP94P1, GRP94b, HSP Yes No Ensembl:ENSG00000259706, GeneCard:HSP90B2P, HGNC:HGNC:12099, NCBI Gene:7190, RefSeq DNA:NG_005740, RefSeq DNA:NT_010274 No chr15 99797730 99800481 99257525 99260276 +PA36782 343477 HGNC:12100 ENSG00000203914 heat shock protein 90kDa beta (Grp94), member 3, pseudogene HSP90B3P GRP94c Yes No Ensembl:ENSG00000203914, GenAtlas:HSP90B3P, GeneCard:HSP90B3P, HGNC:HGNC:12100, NCBI Gene:343477, RefSeq DNA:NT_032977, RefSeq RNA:NR_003130 No chr1 92108073 92109898 91642518 91644341 +PA38779 259217 HGNC:19022 ENSG00000165868 heat shock protein family A (Hsp70) member 12A HSPA12A heat shock 70kDa protein 12A FLJ13874, KIAA0417 Yes No Ensembl:ENSG00000165868, GenAtlas:HSPA12A, GeneCard:HSPA12A, HGNC:HGNC:19022, ModBase:O43301, NCBI Gene:259217, OMIM:610701, RefSeq DNA:NT_030059, RefSeq Protein:NP_079291, RefSeq RNA:NM_025015, UniProtKB:O43301 No chr10 118430703 118609693 116671192 116851241 +PA25771 116835 HGNC:16193 ENSG00000132622 heat shock protein family A (Hsp70) member 12B HSPA12B heat shock 70kD protein 12B C20orf60, dJ1009E24.2 Yes No Ensembl:ENSG00000132622, GeneCard:HSPA12B, HGNC:HGNC:16193, HumanCyc Gene:HS13436, ModBase:Q96MM6, NCBI Gene:116835, OMIM:610702, RefSeq DNA:NT_011387, RefSeq Protein:NP_001184256, RefSeq Protein:NP_443202, RefSeq RNA:NM_001197327, RefSeq RNA:NM_052970, UCSC Genome Browser:NM_052970, UniProtKB:Q96MM6 No chr20 3713317 3733758 3732670 3753111 +PA162391697 6782 HGNC:11375 ENSG00000155304 heat shock protein family A (Hsp70) member 13 HSPA13 heat shock protein 70kDa family, member 13 STCH Yes No Ensembl:ENSG00000155304, GeneCard:HSPA13, HGNC:HGNC:11375, HumanCyc Gene:HS08040, ModBase:P48723, NCBI Gene:6782, OMIM:601100, RefSeq DNA:NT_011512, RefSeq Protein:NP_008879, RefSeq RNA:NM_006948, UniProtKB:P48723 No chr21 15743436 15755509 14371115 14383188 +PA134979057 51182 HGNC:29526 ENSG00000187522 heat shock protein family A (Hsp70) member 14 HSPA14 heat shock 70kDa protein 14 HSP70-4, HSP70L1 Yes No Ensembl:ENSG00000187522, GeneCard:HSPA14, HGNC:HGNC:29526, HumanCyc Gene:HS10767, ModBase:Q0VDF9, NCBI Gene:51182, OMIM:610369, RefSeq DNA:NT_008705, RefSeq Protein:NP_057383, RefSeq RNA:NM_016299, UniProtKB:Q0VDF9 No chr10 14880159 14913740 14838160 14871741 +PA29498 3303 HGNC:5232 ENSG00000204388, ENSG00000204389, ENSG00000212866, ENSG00000224501, ENSG00000231555, ENSG00000232804, ENSG00000234475, ENSG00000235941, ENSG00000237724 heat shock protein family A (Hsp70) member 1A HSPA1A heat shock 70kDa protein 1A HSP70-1, HSPA1 Yes Yes Comparative Toxicogenomics Database:3303, Ensembl:ENSG00000204388, Ensembl:ENSG00000204389, Ensembl:ENSG00000212866, Ensembl:ENSG00000224501, Ensembl:ENSG00000231555, Ensembl:ENSG00000232804, Ensembl:ENSG00000234475, Ensembl:ENSG00000235941, Ensembl:ENSG00000237724, GenAtlas:HSPA1A, GeneCard:HSPA1A, HGNC:HGNC:5232, HumanCyc Gene:HS01864, HumanCyc Gene:HS04795, NCBI Gene:3303, OMIM:140550, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167248, RefSeq Protein:NP_005336, RefSeq RNA:NM_005345, UCSC Genome Browser:NM_005345, UniProtKB:B3KTT5 No chr6 31782952 31785719 31815514 31817942 +PA29499 3304 HGNC:5233 ENSG00000204388, ENSG00000204389, ENSG00000212866, ENSG00000224501, ENSG00000231555, ENSG00000232804, ENSG00000234475, ENSG00000235941, ENSG00000237724 heat shock protein family A (Hsp70) member 1B HSPA1B heat shock 70kDa protein 1B HSP70-2 Yes No Comparative Toxicogenomics Database:3304, Ensembl:ENSG00000204388, Ensembl:ENSG00000204389, Ensembl:ENSG00000212866, Ensembl:ENSG00000224501, Ensembl:ENSG00000231555, Ensembl:ENSG00000232804, Ensembl:ENSG00000234475, Ensembl:ENSG00000235941, Ensembl:ENSG00000237724, GenAtlas:HSPA1B, GeneCard:HSPA1B, HGNC:HGNC:5233, NCBI Gene:3304, OMIM:603012, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167248, RefSeq Protein:NP_005337, RefSeq RNA:NM_005346, UCSC Genome Browser:NM_005346, UniProtKB:A8K5I0, UniProtKB:P08107 No chr6 31789964 31798032 31827735 31830254 +PA29500 3305 HGNC:5234 ENSG00000204390, ENSG00000234258 heat shock protein family A (Hsp70) member 1 like HSPA1L heat shock 70kDa protein 1-like HSP70-HOM, hum70t Yes Yes Comparative Toxicogenomics Database:3305, Ensembl:ENSG00000204390, Ensembl:ENSG00000234258, GenAtlas:HSPA1L, GeneCard:HSPA1L, HGNC:HGNC:5234, ModBase:P34931, NCBI Gene:3305, OMIM:140559, RefSeq DNA:NG_011855, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167248, RefSeq Protein:NP_005518, RefSeq RNA:NM_005527, UCSC Genome Browser:NM_005527, UniProtKB:P34931 No chr6 31777396 31790093 31809619 31815058 +PA29501 3306 HGNC:5235 ENSG00000126803 heat shock protein family A (Hsp70) member 2 HSPA2 heat shock 70kDa protein 2 Yes No Comparative Toxicogenomics Database:3306, Ensembl:ENSG00000126803, GenAtlas:HSPA2, GeneCard:HSPA2, HGNC:HGNC:5235, HumanCyc Gene:HS05051, ModBase:P54652, NCBI Gene:3306, OMIM:140560, RefSeq DNA:NT_026437, RefSeq Protein:NP_068814, RefSeq RNA:NM_021979, UCSC Genome Browser:NM_021979, UniProtKB:P54652 No chr14 65007186 65009955 64540468 64543237 +PA166351922 HGNC:5236 heat shock 70kDa protein 3 HSPA3 Yes No HGNC:HGNC:5236 No 0 0 0 0 +PA29503 3308 HGNC:5237 ENSG00000170606 heat shock protein family A (Hsp70) member 4 HSPA4 heat shock 70kDa protein 4, hsp70 RY HS24/P52, HSPH2 Yes No Comparative Toxicogenomics Database:3308, Ensembl:ENSG00000170606, GenAtlas:HSPA4, GeneCard:HSPA4, HGNC:HGNC:5237, HumanCyc Gene:HS10154, ModBase:P34932, NCBI Gene:3308, OMIM:601113, RefSeq DNA:NT_034772, RefSeq Protein:NP_002145, RefSeq RNA:NM_002154, UCSC Genome Browser:NM_002154, UniProtKB:P34932 No chr5 132387662 132440709 133051970 133105017 +PA134905749 22824 HGNC:17041 ENSG00000164070 heat shock protein family A (Hsp70) member 4 like HSPA4L heat shock 70kDa protein 4-like APG-1, HSPH3, Osp94 Yes No Comparative Toxicogenomics Database:22824, Ensembl:ENSG00000164070, GeneCard:HSPA4L, HGNC:HGNC:17041, HumanCyc Gene:HS08999, ModBase:O95757, NCBI Gene:22824, RefSeq DNA:NT_016354, RefSeq Protein:NP_055093, RefSeq RNA:NM_014278, UniProtKB:A2ICT2, UniProtKB:O95757 No chr4 128703453 128755228 127781821 127834073 +PA29504 3309 HGNC:5238 ENSG00000044574 heat shock protein family A (Hsp70) member 5 HSPA5 """glucose-regulated protein, 78kDa"", ""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)""" BiP, GRP78 Yes Yes Comparative Toxicogenomics Database:3309, Ensembl:ENSG00000044574, GenAtlas:HSPA5, GeneCard:HSPA5, HGNC:HGNC:5238, HumanCyc Gene:HS00579, ModBase:P11021, NCBI Gene:3309, OMIM:138120, RefSeq DNA:NT_008470, RefSeq Protein:NP_005338, RefSeq RNA:NM_005347, UCSC Genome Browser:NM_005347, UniProtKB:P11021 No chr9 127997127 128003666 125234848 125241387 +PA29505 3310 HGNC:5239 ENSG00000173110 heat shock protein family A (Hsp70) member 6 HSPA6 heat shock 70kDa protein 6 (HSP70B') HSP70B' Yes No Comparative Toxicogenomics Database:3310, Ensembl:ENSG00000173110, GenAtlas:HSPA6, GeneCard:HSPA6, HGNC:HGNC:5239, HumanCyc Gene:HS10619, ModBase:P17066, NCBI Gene:3310, OMIM:140555, RefSeq DNA:NT_004487, RefSeq Protein:NP_002146, RefSeq RNA:NM_002155, UCSC Genome Browser:NM_002155, UniProtKB:P17066 No chr1 161494036 161496687 161524540 161526897 +PA29506 3311 HGNC:5240 ENSG00000225217 heat shock 70kDa protein 7 (HSP70B) HSPA7 Yes No Ensembl:ENSG00000225217, GenAtlas:HSPA7, GeneCard:HSPA7, HGNC:HGNC:5240, NCBI Gene:3311, OMIM:140556, RefSeq DNA:NT_004487, RefSeq RNA:NR_024151 No chr1 161575849 161578341 161606059 161608551 +PA29507 3312 HGNC:5241 ENSG00000109971 heat shock protein family A (Hsp70) member 8 HSPA8 heat shock 70kDa protein 8 HSC70, HSC71, HSP73, HSPA10 Yes No Comparative Toxicogenomics Database:3312, Ensembl:ENSG00000109971, GenAtlas:HSPA8, GeneCard:HSPA8, HGNC:HGNC:5241, HumanCyc Gene:HS03273, ModBase:P11142, NCBI Gene:3312, OMIM:600816, RefSeq DNA:NT_033899, RefSeq Protein:NP_006588, RefSeq Protein:NP_694881, RefSeq RNA:NM_006597, RefSeq RNA:NM_153201, UCSC Genome Browser:NM_006597, UniProtKB:P11142 No chr11 122928200 122933074 123057492 123062366 +PA29510 3314 HGNC:5245 ENSG00000234176 heat shock 70kDa protein 8 pseudogene 1 HSPA8P1 Yes No Ensembl:ENSG00000234176, GenAtlas:HSPAP1, GeneCard:HSPA8P1, HGNC:HGNC:5245, NCBI Gene:3314, RefSeq DNA:NG_001144, RefSeq DNA:NT_011786 No chrX 120336697 120338946 121202843 121205092 +PA162391712 3313 HGNC:5244 ENSG00000113013 heat shock protein family A (Hsp70) member 9 HSPA9 """75 kDa glucose-regulated protein"", ""Stress-70 protein, mitochondrial"", ""heat shock 70kDa protein 9 (mortalin)"", ""mortalin"", ""mortalin2""" GRP75, HSPA9B, PBP74, mot-2, mthsp75 Yes No Ensembl:ENSG00000113013, GeneCard:HSPA9, HGNC:HGNC:5244, HumanCyc Gene:HS03641, ModBase:Q9UC56, NCBI Gene:3313, OMIM:600548, RefSeq DNA:NT_034772, RefSeq Protein:NP_004125, RefSeq RNA:NM_004134, UniProtKB:P38646 No chr5 137890571 137911318 138554882 138575629 +PA134906826 266724 HGNC:24915 ENSG00000226666 heat shock 70kDa protein 9 pseudogene 1 HSPA9P1 Yes No Ensembl:ENSG00000226666, HGNC:HGNC:24915, NCBI Gene:266724, RefSeq DNA:NG_002380, RefSeq DNA:NT_005403 No chr2 222826389 222829176 221961670 221964457 +PA165429049 100873903 HGNC:31733 heat shock 70kDa protein 9 pseudogene 2 HSPA9P2 Yes No HGNC:HGNC:31733, NCBI Gene:100873903 No chr18 26836455 26837039 29256290 29257060 +PA29511 3315 HGNC:5246 ENSG00000106211 heat shock protein family B (small) member 1 HSPB1 heat shock 27kDa protein 1 CMT2F, HSP27, HSP28, Hs.76067, Hsp25 Yes No Comparative Toxicogenomics Database:3315, Ensembl:ENSG00000106211, GenAtlas:HSPB1, GeneCard:HSPB1, HGNC:HGNC:5246, HumanCyc Gene:HS02871, ModBase:P04792, NCBI Gene:3315, OMIM:602195, OMIM:606595, OMIM:608634, RefSeq DNA:NG_008995, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001531, RefSeq RNA:NM_001540, UCSC Genome Browser:NM_001540, UniProtKB:P04792 No chr7 75931875 75933614 76302558 76304297 +PA29517 653553 HGNC:5251 ENSG00000236060 heat shock 27kDa protein 1 pseudogene 1 HSPB1P1 Yes No Ensembl:ENSG00000236060, GenAtlas:HSPBL2, GeneCard:HSPB1P1, HGNC:HGNC:5251, NCBI Gene:653553, RefSeq DNA:NG_013115, RefSeq DNA:NT_008470, RefSeq DNA:NT_079595, RefSeq RNA:NR_024392 No chr9 74622675 74623051 72007759 72008136 +PA29518 653364 HGNC:5252 ENSG00000230216 heat shock 27kDa protein 1 pseudogene 2 HSPB1P2 heat shock 27kDa protein 1 (HSPB1) pseudogene Yes No Ensembl:ENSG00000230216, GenAtlas:HSPBL3, GeneCard:HSPB1P2, HGNC:HGNC:5252, NCBI Gene:653364, RefSeq DNA:NG_008236, RefSeq DNA:NT_079573 No chrX 49090262 49090999 49233800 49234540 +PA29512 3316 HGNC:5247 ENSG00000170276 heat shock protein family B (small) member 2 HSPB2 heat shock 27kDa protein 2 Hs.78846, MKBP Yes No Comparative Toxicogenomics Database:3316, Ensembl:ENSG00000170276, GenAtlas:HSPB2, GeneCard:HSPB2, HGNC:HGNC:5247, HumanCyc Gene:HS10095, ModBase:Q16082, NCBI Gene:3316, OMIM:602179, RefSeq DNA:NT_033899, RefSeq Protein:NP_001532, RefSeq RNA:NM_001541, UCSC Genome Browser:NM_001541, UniProtKB:A8KAH6, UniProtKB:Q16082 No chr11 111783460 111784817 111912736 111914093 +PA29513 8988 HGNC:5248 ENSG00000169271 heat shock protein family B (small) member 3 HSPB3 heat shock 27kDa protein 3 HSPL27 Yes No Comparative Toxicogenomics Database:8988, Ensembl:ENSG00000169271, GenAtlas:HSPB3, GeneCard:HSPB3, HGNC:HGNC:5248, HumanCyc Gene:HS09919, ModBase:Q12988, NCBI Gene:8988, OMIM:604624, OMIM:613376, RefSeq DNA:NT_006713, RefSeq Protein:NP_006299, RefSeq RNA:NM_006308, UCSC Genome Browser:NM_006308, UniProtKB:Q12988, UniProtKB:Q6ICS9 No chr5 53751431 53752214 54455601 54456384 +PA134983584 126393 HGNC:26511 ENSG00000004776 heat shock protein family B (small) member 6 HSPB6 """heat shock protein, alpha-crystallin-related, B6"", ""protein phosphatase 1, regulatory subunit 91""" FLJ32389, Hsp20, PPP1R91 Yes No Comparative Toxicogenomics Database:126393, Ensembl:ENSG00000004776, GeneCard:HSPB6, HGNC:HGNC:26511, HumanCyc Gene:HS00110, ModBase:O14558, NCBI Gene:126393, OMIM:610695, RefSeq DNA:NT_011109, RefSeq Protein:NP_653218, RefSeq RNA:NM_144617, UniProtKB:O14558 No chr19 36245467 36247930 35754566 35757029 +PA29514 27129 HGNC:5249 ENSG00000173641 heat shock protein family B (small) member 7 HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular) cvHSP Yes No Comparative Toxicogenomics Database:27129, Ensembl:ENSG00000173641, GenAtlas:HSPB7, GeneCard:HSPB7, HGNC:HGNC:5249, HumanCyc Gene:HS10705, ModBase:Q9UBY9, NCBI Gene:27129, OMIM:610692, RefSeq DNA:NT_004610, RefSeq Protein:NP_055239, RefSeq RNA:NM_014424, UCSC Genome Browser:NM_014424, UniProtKB:Q9UBY9 No chr1 16340523 16346084 16014028 16018796 +PA134900173 26353 HGNC:30171 ENSG00000152137 heat shock protein family B (small) member 8 HSPB8 heat shock 22kDa protein 8 CMT2L, E2IG1, H11, HSP22, HspB8 Yes No Comparative Toxicogenomics Database:26353, Ensembl:ENSG00000152137, GeneCard:HSPB8, HGNC:HGNC:30171, HumanCyc Gene:HS07794, ModBase:Q9UJY1, NCBI Gene:26353, OMIM:158590, OMIM:608014, OMIM:608673, RefSeq DNA:NG_007953, RefSeq DNA:NT_009775, RefSeq Protein:NP_055180, RefSeq RNA:NM_014365, UniProtKB:Q9UJY1 No chr12 119616595 119632551 119178790 119194746 +PA134875756 94086 HGNC:30589 ENSG00000260325 heat shock protein family B (small) member 9 HSPB9 """cancer/testis antigen 51"", ""heat shock protein, alpha-crystallin-related, B9""" CT51 Yes No Comparative Toxicogenomics Database:94086, Ensembl:ENSG00000260325, GeneCard:HSPB9, HGNC:HGNC:30589, ModBase:Q9BQS6, NCBI Gene:94086, OMIM:608344, RefSeq DNA:NT_010783, RefSeq Protein:NP_149971, RefSeq RNA:NM_033194, UniProtKB:Q9BQS6 No chr17 40274756 40275371 42122738 42123353 +PA29515 79663 HGNC:16389 ENSG00000169087 HSPB1 associated protein 1 HSPBAP1 HSPB (heat shock 27kDa) associated protein 1 FLJ22623, PASS1 Yes No Comparative Toxicogenomics Database:79663, Ensembl:ENSG00000169087, GenAtlas:HSPBAP1, GeneCard:HSPBAP1, HGNC:HGNC:16389, HumanCyc Gene:HS15745, ModBase:Q96EW2, NCBI Gene:79663, OMIM:608263, RefSeq DNA:NT_005612, RefSeq Protein:NP_078886, RefSeq RNA:NM_024610, UCSC Genome Browser:NM_024610, UniProtKB:Q96EW2 No chr3 122458844 122512666 122739997 122793829 +PA164720725 23640 HGNC:24989 ENSG00000133265 HSPA (Hsp70) binding protein 1 HSPBP1 """HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1"", ""Hsp70 binding protein 1"", ""hsp70 interacting protein""" FES1, HspBP1 Yes No Ensembl:ENSG00000133265, GeneCard:HSPBP1, HGNC:HGNC:24989, HumanCyc Gene:HS05753, NCBI Gene:23640, OMIM:612939, RefSeq DNA:NT_011109, RefSeq Protein:NP_001123578, RefSeq Protein:NP_036399, RefSeq RNA:NM_001130106, RefSeq RNA:NM_012267, UniProtKB:Q9NZL4 No chr19 55773591 55791751 55262222 55280383 +PA128394651 29060 HSPC047 protein (non-HGNC gene) HSPC047 Yes No NCBI Gene:29060, UCSC Genome Browser:NM_014147 No chr7 +PA29527 3329 HGNC:5261 ENSG00000144381 heat shock protein family D (Hsp60) member 1 HSPD1 heat shock 60kDa protein 1 (chaperonin) GROEL, HSP60, SPG13 Yes No Comparative Toxicogenomics Database:3329, Ensembl:ENSG00000144381, GenAtlas:HSPD1, GeneCard:HSPD1, HGNC:HGNC:5261, HumanCyc Gene:HS07171, ModBase:P10809, NCBI Gene:3329, OMIM:118190, OMIM:605280, OMIM:612233, RefSeq DNA:NG_008915, RefSeq DNA:NT_005403, RefSeq Protein:NP_002147, RefSeq Protein:NP_955472, RefSeq RNA:NM_002156, RefSeq RNA:NM_199440, UCSC Genome Browser:NM_002156, UniProtKB:P10809 No chr2 198351308 198364998 197486584 197500274 +PA164720746 644016 HGNC:35131 ENSG00000216990 heat shock 60kDa protein 1 (chaperonin) pseudogene 10 HSPD1P10 HSPD1-4P Yes No Ensembl:ENSG00000216990, HGNC:HGNC:35131, NCBI Gene:644016 No chr6 88008490 88010162 87298709 87300641 +PA164720747 100359396 HGNC:35142 ENSG00000251348 heat shock 60kDa protein 1 (chaperonin) pseudogene 11 HSPD1P11 Yes No Ensembl:ENSG00000251348, HGNC:HGNC:35142, NCBI Gene:100359396 No chr5 95104751 95106885 95769697 95771187 +PA164720748 100462987 HGNC:35138 ENSG00000255403 heat shock 60kDa protein 1 (chaperonin) pseudogene 13 HSPD1P13 HSPD1-16P Yes No Ensembl:ENSG00000255403, HGNC:HGNC:35138, NCBI Gene:100462987 No chr11 105577592 105578545 105706866 105707819 +PA164720749 100287140 HGNC:35143 ENSG00000227000 heat shock 60kDa protein 1 (chaperonin) pseudogene 14 HSPD1P14 HSPD1-17P Yes No Ensembl:ENSG00000227000, HGNC:HGNC:35143, NCBI Gene:100287140 No chr1 34304122 34305738 33838521 33840137 +PA164720750 646273 HGNC:35130 ENSG00000249557 heat shock 60kDa protein 1 (chaperonin) pseudogene 15 HSPD1P15 HSPD1-15P Yes No Ensembl:ENSG00000249557, HGNC:HGNC:35130, NCBI Gene:646273 No chr5 19233475 19234648 19233302 19234205 +PA164720751 100462985 HGNC:35128 ENSG00000218792 heat shock 60kDa protein 1 (chaperonin) pseudogene 16 HSPD1P16 HSPD1-13P Yes No Ensembl:ENSG00000218792, HGNC:HGNC:35128, NCBI Gene:100462985 No chr6 153026933 153027250 152705728 152706315 +PA164720752 100462986 HGNC:35147 heat shock 60kDa protein 1 (chaperonin) pseudogene 17 HSPD1P17 HSPD1-19P Yes No HGNC:HGNC:35147, NCBI Gene:100462986 No chr10 50648862 50649002 49440816 49440956 +PA164720753 100359397 HGNC:35136 ENSG00000248351 heat shock 60kDa protein 1 (chaperonin) pseudogene 18 HSPD1P18 Yes No Ensembl:ENSG00000248351, HGNC:HGNC:35136, NCBI Gene:100359397 No chr5 135716704 135717199 136380924 136381511 +PA29531 3332 HGNC:5264 ENSG00000255128 heat shock 60kDa protein 1 (chaperonin) pseudogene 3 HSPD1P3 HSP60P1, HSP60P3, HSP60P4, HSPD1-7P Yes No Ensembl:ENSG00000255128, GenAtlas:HSPDP1, GenAtlas:HSPDP3, GenAtlas:HSPDP4, GeneCard:HSPD1P3, GeneCard:HSPDP1, GeneCard:HSPDP4, HGNC:HGNC:5264, NCBI Gene:3332, RefSeq DNA:NG_001145, RefSeq DNA:NG_001147, RefSeq DNA:NG_001148, RefSeq DNA:NT_023736 No chr8 7248860 7278554 7418786 7421032 +PA29532 345041 HGNC:5266 heat shock 60kDa protein 1 (chaperonin) pseudogene 5 HSPD1P5 Yes No GenAtlas:HSPDP5, GeneCard:HSPDP5, HGNC:HGNC:5266, NCBI Gene:345041 No chr4 145766717 145768812 144845565 144847660 +PA29533 645548 HGNC:5267 heat shock 60kDa protein 1 (chaperonin) pseudogene 6 HSPD1P6 Yes No GenAtlas:HSPDP6, GeneCard:HSPDP6, HGNC:HGNC:5267, NCBI Gene:645548 No chr3 36808134 36810378 36766643 36768887 +PA29534 54047 HGNC:5268 ENSG00000215005 heat shock 60kDa protein 1 (chaperonin) pseudogene 7 HSPD1P7 HSPD1-22P Yes No Ensembl:ENSG00000215005, GenAtlas:HSPDP7, GeneCard:HSPD1P7, HGNC:HGNC:5268, NCBI Gene:54047, RefSeq DNA:NG_000920, RefSeq DNA:NT_011512 No chr21 30259308 30261656 28886986 28889334 +PA164720754 647298 HGNC:35145 ENSG00000215357 heat shock 60kDa protein 1 (chaperonin) pseudogene 8 HSPD1P8 HSPD1-12P Yes No Ensembl:ENSG00000215357, HGNC:HGNC:35145, NCBI Gene:647298 No chr13 79423366 79425343 78849102 78851406 +PA164720755 646910 HGNC:35132 ENSG00000228036 heat shock 60kDa protein 1 (chaperonin) pseudogene 9 HSPD1P9 HSPD1-14P Yes No Ensembl:ENSG00000228036, HGNC:HGNC:35132, NCBI Gene:646910 No chr13 38566784 38568902 37992585 37994765 +PA29535 3336 HGNC:5269 ENSG00000115541 heat shock protein family E (Hsp10) member 1 HSPE1 chaperonin 10, early pregnancy factor, heat shock 10kDa protein 1, heat shock 10kDa protein 1 (chaperonin 10) CPN10, EPF, GROES, HSP10 Yes No Comparative Toxicogenomics Database:3336, Ensembl:ENSG00000115541, GenAtlas:HSPE1, GeneCard:HSPE1, HGNC:HGNC:5269, HumanCyc Gene:HS03907, ModBase:P61604, NCBI Gene:3336, OMIM:600141, RefSeq DNA:NG_008914, RefSeq DNA:NT_005403, RefSeq Protein:NP_002148, RefSeq RNA:NM_002157, UCSC Genome Browser:NM_002157, UniProtKB:P61604 No chr2 198364721 198368187 197499997 197503463 +PA29536 140895 HGNC:16530 ENSG00000234878 heat shock 10kDa protein 1 (chaperonin 10) pseudogene 1 HSPE1P1 bA101E14.1 Yes No Ensembl:ENSG00000234878, GenAtlas:HSPEP1, GeneCard:HSPE1P1, HGNC:HGNC:16530, NCBI Gene:140895, RefSeq DNA:NG_001006, RefSeq DNA:NT_011362 No chr20 38561564 38561881 39932922 39933239 +PA134864902 326300 HGNC:20052 ENSG00000258645 heat shock 10kDa protein 1 (chaperonin 10) pseudogene 2 HSPE1P2 Yes No Ensembl:ENSG00000258645, HGNC:HGNC:20052, NCBI Gene:326300, RefSeq DNA:NG_002552, RefSeq DNA:NT_026437 No chr14 64068189 64068652 63601471 63601934 +PA29537 3339 HGNC:5273 ENSG00000142798 heparan sulfate proteoglycan 2 HSPG2 endorepellin, perlecan proteoglycan PRCAN, SJS1, perlecan Yes Yes Comparative Toxicogenomics Database:3339, Ensembl:ENSG00000142798, GenAtlas:HSPG2, GeneCard:HSPG2, HGNC:HGNC:5273, HumanCyc Gene:HS06964, NCBI Gene:3339, OMIM:142461, OMIM:224410, OMIM:255800, RefSeq DNA:NG_016740, RefSeq DNA:NT_004610, RefSeq Protein:NP_005520, RefSeq RNA:NM_005529, UCSC Genome Browser:NM_005529, UniProtKB:P98160 No chr1 22148737 22263750 21822232 21937297 +PA134869917 10808 HGNC:16969 ENSG00000120694 heat shock protein family H (Hsp110) member 1 HSPH1 heat shock 105kDa/110kDa protein 1 HSP105A, HSP105B, KIAA0201, NY-CO-25 Yes No Comparative Toxicogenomics Database:10808, Ensembl:ENSG00000120694, GeneCard:HSPH1, HGNC:HGNC:16969, HumanCyc Gene:HS04422, ModBase:Q92598, NCBI Gene:10808, OMIM:610703, RefSeq DNA:NT_024524, RefSeq Protein:NP_006635, RefSeq RNA:NM_006644, UniProtKB:Q92598 No chr13 31710762 31737246 31134974 31163109 +PA29539 10553 HGNC:16637 ENSG00000109854 HIV-1 Tat interactive protein 2 HTATIP2 """HIV-1 Tat interactive protein 2, 30kDa"", ""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1""" CC3, FLJ26963, SDR44U1, TIP30 Yes No Comparative Toxicogenomics Database:10553, Ensembl:ENSG00000109854, GenAtlas:HTATIP2, GeneCard:HTATIP2, HGNC:HGNC:16637, HumanCyc Gene:HS03264, ModBase:Q9BUP3, NCBI Gene:10553, OMIM:605628, RefSeq DNA:NT_009237, RefSeq Protein:NP_001091990, RefSeq Protein:NP_001091991, RefSeq Protein:NP_001091992, RefSeq Protein:NP_001091993, RefSeq Protein:NP_006401, RefSeq RNA:NM_001098520, RefSeq RNA:NM_001098521, RefSeq RNA:NM_001098522, RefSeq RNA:NM_001098523, RefSeq RNA:NM_006410, UCSC Genome Browser:NM_006410, UniProtKB:Q9BUP3 No chr11 20385231 20405329 20363685 20383783 +PA29540 27336 HGNC:5276 ENSG00000102241 HIV-1 Tat specific factor 1 HTATSF1 TAT-SF1 Yes No Comparative Toxicogenomics Database:27336, Ensembl:ENSG00000102241, GenAtlas:HTATSF1, GeneCard:HTATSF1, HGNC:HGNC:5276, HumanCyc Gene:HS02373, ModBase:O43719, NCBI Gene:27336, OMIM:300346, RefSeq DNA:NG_013235, RefSeq DNA:NT_011786, RefSeq Protein:NP_001156752, RefSeq Protein:NP_055315, RefSeq RNA:NM_001163280, RefSeq RNA:NM_014500, UCSC Genome Browser:NM_014500, UniProtKB:O43719 No chrX 135579238 135594505 136496932 136512346 +PA134960742 387039 HGNC:13959 ENSG00000223457 HIV-1 Tat specific factor 1 pseudogene 1 HTATSF1P1 TAT-SF1-L, dJ1033B10.6 Yes No Ensembl:ENSG00000223457, HGNC:HGNC:13959, NCBI Gene:387039 No chr6 +PA165617945 401233 HGNC:38586 ENSG00000271361 HIV-1 Tat specific factor 1 pseudogene 2 HTATSF1P2 Yes No Ensembl:ENSG00000271361, HGNC:HGNC:38586, NCBI Gene:401233 No chr6 3020390 3025005 3020156 3024771 +PA166181546 109703458 HGNC:53111 ENSG00000255154 hydroxyacyl-thioester dehydratase type 2 HTD2 Yes No Ensembl:ENSG00000255154, HGNC:HGNC:53111, NCBI Gene:109703458 No 0 0 0 0 +PA29546 3346 HGNC:5283 ENSG00000126550 histatin 1 HTN1 HIS1 Yes No Comparative Toxicogenomics Database:3346, Ensembl:ENSG00000126550, GenAtlas:HTN1, GeneCard:HTN1, HGNC:HGNC:5283, HumanCyc Gene:HS05031, NCBI Gene:3346, OMIM:142701, RefSeq DNA:NT_022778, RefSeq Protein:NP_002150, RefSeq RNA:NM_002159, UCSC Genome Browser:NM_002159, UniProtKB:P15515 No chr4 70916159 70924559 70050415 70058848 +PA29547 3347 HGNC:5284 ENSG00000205649 histatin 3 HTN3 HIS2 Yes No Ensembl:ENSG00000205649, GenAtlas:HTN3, GeneCard:HTN3, HGNC:HGNC:5284, NCBI Gene:3347, OMIM:142702, RefSeq DNA:NG_012279, RefSeq DNA:NT_022778, RefSeq Protein:NP_000191, RefSeq RNA:NM_000200, UCSC Genome Browser:NM_000200, UniProtKB:P15516 No chr4 70894130 70902255 70028413 70036538 +PA29548 3349 HGNC:5285 5-hydroxytryptamine (serotonin) oxygenase regulator HTOR Yes No Comparative Toxicogenomics Database:3349, GenAtlas:HTOR, GeneCard:HTOR, HGNC:HGNC:5285, NCBI Gene:3349, OMIM:143460 No chr21 +PA192 3350 HGNC:5286 ENSG00000178394 5-hydroxytryptamine receptor 1A HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 5-HT1A, ADRB2RL1, ADRBRL1 Yes Yes Comparative Toxicogenomics Database:3350, Ensembl:ENSG00000178394, GenAtlas:HTR1A, GeneCard:HTR1A, HGNC:HGNC:5286, HumanCyc Gene:HS11285, IUPHAR Receptor:1, ModBase:P08908, NCBI Gene:3350, OMIM:109760, RefSeq DNA:NT_006713, RefSeq Protein:NP_000515, RefSeq RNA:NM_000524, UCSC Genome Browser:NM_000524, UniProtKB:P08908, UniProtKB:Q5ZGX3 No chr5 63255875 63258119 63960048 63962292 +PA29549 3351 HGNC:5287 ENSG00000135312 5-hydroxytryptamine receptor 1B HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 5-HT1B, 5-HT1DB, HTR1D2, S12 Yes Yes Comparative Toxicogenomics Database:3351, Ensembl:ENSG00000135312, GenAtlas:HTR1B, GeneCard:HTR1B, HGNC:HGNC:5287, HumanCyc Gene:HS05978, IUPHAR Receptor:2, ModBase:P28222, NCBI Gene:3351, OMIM:182131, RefSeq DNA:NT_007299, RefSeq Protein:NP_000854, RefSeq RNA:NM_000863, UCSC Genome Browser:NM_000863, UniProtKB:P28222 No chr6 78171948 78173120 77460848 77464022 +PA29550 3352 HGNC:5289 ENSG00000179546 5-hydroxytryptamine receptor 1D HTR1D 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 5-HT1D, HT1DA, HTRL, RDC4 Yes Yes Comparative Toxicogenomics Database:3352, Ensembl:ENSG00000179546, GenAtlas:HTR1D, GeneCard:HTR1D, HGNC:HGNC:5289, HumanCyc Gene:HS11392, IUPHAR Receptor:3, ModBase:P28221, NCBI Gene:3352, OMIM:182133, RefSeq DNA:NT_004610, RefSeq Protein:NP_000855, RefSeq RNA:NM_000864, UCSC Genome Browser:NM_000864, UniProtKB:P28221 No chr1 23518388 23521222 23191895 23194729 +PA29551 100421479 HGNC:5290 ENSG00000275811 5-hydroxytryptamine (serotonin) receptor 1D pseudogene 1 HTR1DP1 Yes No Ensembl:ENSG00000275811, GenAtlas:HTR1DP1, GeneCard:HTR1DP1, HGNC:HGNC:5290, NCBI Gene:100421479 No chr12 1261423 1262203 1152257 1153037 +PA29552 3354 HGNC:5291 ENSG00000168830 5-hydroxytryptamine receptor 1E HTR1E 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 5-HT1E Yes No Ensembl:ENSG00000168830, GenAtlas:HTR1E, GeneCard:HTR1E, HGNC:HGNC:5291, HumanCyc Gene:HS09833, IUPHAR Receptor:4, ModBase:P28566, NCBI Gene:3354, OMIM:182132, RefSeq DNA:NT_007299, RefSeq Protein:NP_000856, RefSeq RNA:NM_000865, UCSC Genome Browser:NM_000865, UniProtKB:P28566 No chr6 87647024 87726397 86936919 87020068 +PA29553 3355 HGNC:5292 ENSG00000179097 5-hydroxytryptamine receptor 1F HTR1F 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 5-HT1F, HTR1EL Yes No Comparative Toxicogenomics Database:3355, Ensembl:ENSG00000179097, GenAtlas:HTR1F, GeneCard:HTR1F, HGNC:HGNC:5292, HumanCyc Gene:HS11351, IUPHAR Receptor:5, ModBase:P30939, NCBI Gene:3355, OMIM:182134, RefSeq DNA:NT_022459, RefSeq Protein:NP_000857, RefSeq RNA:NM_000866, UCSC Genome Browser:NM_000866, UniProtKB:P30939 No chr3 87841929 88043964 87792767 87994856 +PA193 3356 HGNC:5293 ENSG00000102468 5-hydroxytryptamine receptor 2A HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 5-HT2A, HTR2 Yes Yes Comparative Toxicogenomics Database:3356, Ensembl:ENSG00000102468, GenAtlas:HTR2A, GeneCard:HTR2A, HGNC:HGNC:5293, HumanCyc Gene:HS02392, IUPHAR Receptor:6, ModBase:P28223, NCBI Gene:3356, OMIM:103780, OMIM:164230, OMIM:181500, OMIM:182135, OMIM:606788, OMIM:608516, RefSeq DNA:NG_013011, RefSeq DNA:NT_024524, RefSeq Protein:NP_000612, RefSeq Protein:NP_001159419, RefSeq RNA:NM_000621, RefSeq RNA:NM_001165947, UCSC Genome Browser:NM_000621, UniProtKB:P28223 Yes chr13 47405677 47471211 46831542 46897076 +PA29554 3357 HGNC:5294 ENSG00000135914 5-hydroxytryptamine receptor 2B HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled 5-HT(2B), 5-HT2B Yes No Comparative Toxicogenomics Database:3357, Ensembl:ENSG00000135914, GenAtlas:HTR2B, GeneCard:HTR2B, HGNC:HGNC:5294, HumanCyc Gene:HS06082, IUPHAR Receptor:7, ModBase:P41595, NCBI Gene:3357, OMIM:601122, RefSeq DNA:NT_005403, RefSeq Protein:NP_000858, RefSeq RNA:NM_000867, UCSC Genome Browser:NM_000867, UniProtKB:P41595 No chr2 231972944 231989926 231108230 231125778 +PA194 3358 HGNC:5295 ENSG00000147246 5-hydroxytryptamine receptor 2C HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 5-HT2C, 5HTR2C, HTR1C Yes Yes Comparative Toxicogenomics Database:3358, Ensembl:ENSG00000147246, GenAtlas:HTR2C, GeneCard:HTR2C, HGNC:HGNC:5295, HumanCyc Gene:HS07411, IUPHAR Receptor:8, ModBase:P28335, NCBI Gene:3358, OMIM:312861, RefSeq DNA:NG_012082, RefSeq DNA:NT_028405, RefSeq Protein:NP_000859, RefSeq RNA:NM_000868, UCSC Genome Browser:NM_000868, UniProtKB:P28335 No chrX 113818551 114144624 114584078 114910061 +PA29555 3359 HGNC:5297 ENSG00000166736 5-hydroxytryptamine receptor 3A HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 5-HT3A, 5-HT3R, HTR3 Yes Yes Comparative Toxicogenomics Database:3359, Ensembl:ENSG00000166736, GenAtlas:HTR3A, GeneCard:HTR3A, HGNC:HGNC:5297, HumanCyc Gene:HS09443, IUPHAR Receptor:373, ModBase:P46098, NCBI Gene:3359, OMIM:182139, RefSeq DNA:NG_013058, RefSeq DNA:NT_033899, RefSeq Protein:NP_000860, RefSeq Protein:NP_001155244, RefSeq Protein:NP_998786, RefSeq RNA:NM_000869, RefSeq RNA:NM_001161772, RefSeq RNA:NM_213621, UCSC Genome Browser:NM_000869, UniProtKB:B4DSY6, UniProtKB:B4E398, UniProtKB:P46098, UniProtKB:Q7KZM7 No chr11 113845797 113861035 113975075 113990313 +PA29556 9177 HGNC:5298 ENSG00000149305 5-hydroxytryptamine receptor 3B HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 5-HT3B Yes Yes Comparative Toxicogenomics Database:9177, Ensembl:ENSG00000149305, GenAtlas:HTR3B, GeneCard:HTR3B, HGNC:HGNC:5298, HumanCyc Gene:HS07603, IUPHAR Receptor:374, ModBase:O95264, NCBI Gene:9177, OMIM:604654, RefSeq DNA:NG_011483, RefSeq DNA:NT_033899, RefSeq Protein:NP_006019, RefSeq RNA:NM_006028, UCSC Genome Browser:NM_006028, UniProtKB:O95264 No chr11 113775518 113817283 113904796 113949682 +PA134925741 170572 HGNC:24003 ENSG00000178084 5-hydroxytryptamine receptor 3C HTR3C 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic Yes Yes Ensembl:ENSG00000178084, GeneCard:HTR3C, HGNC:HGNC:24003, HumanCyc Gene:HS11247, IUPHAR Receptor:375, ModBase:Q8WXA8, NCBI Gene:170572, OMIM:610121, RefSeq DNA:NG_012749, RefSeq DNA:NT_005612, RefSeq Protein:NP_570126, RefSeq RNA:NM_130770, UniProtKB:Q8WXA8 No chr3 183770835 183778461 184053047 184060673 +PA134866755 200909 HGNC:24004 ENSG00000186090 5-hydroxytryptamine receptor 3D HTR3D 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic Yes Yes Ensembl:ENSG00000186090, GeneCard:HTR3D, HGNC:HGNC:24004, IUPHAR Receptor:376, ModBase:Q70Z44, NCBI Gene:200909, OMIM:610122, RefSeq DNA:NG_012750, RefSeq DNA:NT_005612, RefSeq Protein:NP_001138615, RefSeq Protein:NP_001157118, RefSeq Protein:NP_872343, RefSeq RNA:NM_001145143, RefSeq RNA:NM_001163646, RefSeq RNA:NM_182537, UniProtKB:Q70Z44 No chr3 183749332 183757157 184031544 184039369 +PA134900226 285242 HGNC:24005 ENSG00000186038 5-hydroxytryptamine receptor 3E HTR3E 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic Yes Yes Ensembl:ENSG00000186038, GeneCard:HTR3E, HGNC:HGNC:24005, IUPHAR Receptor:377, ModBase:A5X5Y0, NCBI Gene:285242, OMIM:610123, RefSeq DNA:NG_012452, RefSeq DNA:NT_005612, RefSeq Protein:NP_872395, RefSeq RNA:NM_182589, UniProtKB:A5X5Y0 No chr3 183814852 183824783 184097064 184106995 +PA29557 3360 HGNC:5299 ENSG00000164270 5-hydroxytryptamine receptor 4 HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 5-HT4 Yes Yes Comparative Toxicogenomics Database:3360, Ensembl:ENSG00000164270, GenAtlas:HTR4, GeneCard:HTR4, HGNC:HGNC:5299, HumanCyc Gene:HS09050, IUPHAR Receptor:9, ModBase:Q9UE23, NCBI Gene:3360, OMIM:602164, RefSeq DNA:NT_029289, RefSeq Protein:NP_000861, RefSeq Protein:NP_001035259, RefSeq Protein:NP_001035261, RefSeq Protein:NP_001035262, RefSeq Protein:NP_001035263, RefSeq Protein:NP_001035264, RefSeq Protein:NP_955525, RefSeq RNA:NM_000870, RefSeq RNA:NM_001040169, RefSeq RNA:NM_001040171, RefSeq RNA:NM_001040172, RefSeq RNA:NM_001040173, RefSeq RNA:NM_001040174, RefSeq RNA:NM_199453, UCSC Genome Browser:NM_000870, UniProtKB:Q13639, UniProtKB:Q546Q1, UniProtKB:Q684M0, UniProtKB:Q712M9 No chr5 147830595 148034090 148451032 148654527 +PA29558 3361 HGNC:5300 ENSG00000157219 5-hydroxytryptamine receptor 5A HTR5A 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 5-HT5A Yes Yes Comparative Toxicogenomics Database:3361, Ensembl:ENSG00000157219, GenAtlas:HTR5A, GeneCard:HTR5A, HGNC:HGNC:5300, HumanCyc Gene:HS08193, IUPHAR Receptor:10, ModBase:P47898, NCBI Gene:3361, OMIM:601305, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_076917, RefSeq RNA:NM_024012, UCSC Genome Browser:NM_024012, UniProtKB:A4D2N2, UniProtKB:P47898 No chr7 154862034 154879102 155070324 155087392 +PA29559 645694 HGNC:16291 ENSG00000125631 5-hydroxytryptamine (serotonin) receptor 5B, pseudogene HTR5BP 5-HT5B Yes No Ensembl:ENSG00000125631, GenAtlas:HTR5B, GeneCard:HTR5BP, HGNC:HGNC:16291, NCBI Gene:645694, RefSeq DNA:NG_008325, RefSeq DNA:NT_022135 No chr2 118617003 118661256 117859427 117903680 +PA29560 3362 HGNC:5301 ENSG00000158748 5-hydroxytryptamine receptor 6 HTR6 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 5-HT6, 5-HT6R Yes Yes Comparative Toxicogenomics Database:3362, Ensembl:ENSG00000158748, GenAtlas:HTR6, GeneCard:HTR6, HGNC:HGNC:5301, HumanCyc Gene:HS08324, IUPHAR Receptor:11, ModBase:P50406, NCBI Gene:3362, OMIM:601109, RefSeq DNA:NT_004610, RefSeq Protein:NP_000862, RefSeq RNA:NM_000871, UCSC Genome Browser:NM_000871, UniProtKB:P50406 No chr1 19991780 20006055 19665287 19680966 +PA29561 3363 HGNC:5302 ENSG00000148680 5-hydroxytryptamine receptor 7 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 5-HT7 Yes Yes Comparative Toxicogenomics Database:3363, Ensembl:ENSG00000148680, GenAtlas:HTR7, GeneCard:HTR7, HGNC:HGNC:5302, HumanCyc Gene:HS07550, IUPHAR Receptor:12, ModBase:P34969, NCBI Gene:3363, OMIM:182137, RefSeq DNA:NT_030059, RefSeq Protein:NP_000863, RefSeq Protein:NP_062873, RefSeq Protein:NP_062874, RefSeq RNA:NM_000872, RefSeq RNA:NM_019859, RefSeq RNA:NM_019860, UCSC Genome Browser:NM_000872, UniProtKB:P34969, UniProtKB:Q5VX03 No chr10 92500575 92617671 90740818 90857914 +PA143485499 93164 HGNC:30411 ENSG00000183935 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 HTR7P1 Yes No Ensembl:ENSG00000183935, HGNC:HGNC:30411, NCBI Gene:93164, RefSeq DNA:NT_009714, RefSeq RNA:NR_002774 No chr12 13153376 13157764 13000442 13004830 +PA33829 5654 HGNC:9476 ENSG00000166033 HtrA serine peptidase 1 HTRA1 ARMD7, HtrA, IGFBP5-protease, PRSS11 Yes Yes Comparative Toxicogenomics Database:5654, Ensembl:ENSG00000166033, GenAtlas:HTRA1, GeneCard:HTRA1, HGNC:HGNC:9476, HumanCyc Gene:HS09322, ModBase:Q92743, NCBI Gene:5654, OMIM:602194, OMIM:610149, RefSeq DNA:NG_011554, RefSeq DNA:NT_030059, RefSeq Protein:NP_002766, RefSeq RNA:NM_002775, UCSC Genome Browser:NM_002775, UniProtKB:Q92743 No chr10 124221041 124274424 122461525 122514908 +PA33836 27429 HGNC:14348 ENSG00000115317 HtrA serine peptidase 2 HTRA2 OMI, PARK13, PRSS25 Yes No Comparative Toxicogenomics Database:27429, Ensembl:ENSG00000115317, GenAtlas:HTRA2, GeneCard:HTRA2, HGNC:HGNC:14348, HumanCyc Gene:HS03870, ModBase:O43464, NCBI Gene:27429, OMIM:606441, OMIM:610297, RefSeq DNA:NG_012163, RefSeq DNA:NT_022184, RefSeq Protein:NP_037379, RefSeq Protein:NP_659540, RefSeq RNA:NM_013247, RefSeq RNA:NM_145074, UCSC Genome Browser:NM_013247, UniProtKB:O43464 No chr2 74756532 74760683 74529405 74533556 +PA134908281 94031 HGNC:30406 ENSG00000170801 HtrA serine peptidase 3 HTRA3 pregnancy-related serine protease Prsp, Tasp Yes No Ensembl:ENSG00000170801, GeneCard:HTRA3, HGNC:HGNC:30406, HumanCyc Gene:HS10182, ModBase:P83110, NCBI Gene:94031, OMIM:608785, RefSeq DNA:NT_006051, RefSeq Protein:NP_444272, RefSeq RNA:NM_053044, UniProtKB:P83110 No chr4 8271487 8308838 8269757 8307111 +PA134862039 203100 HGNC:26909 ENSG00000169495 HtrA serine peptidase 4 HTRA4 FLJ90724 Yes No Comparative Toxicogenomics Database:203100, Ensembl:ENSG00000169495, GeneCard:HTRA4, HGNC:HGNC:26909, HumanCyc Gene:HS09958, ModBase:P83105, NCBI Gene:203100, OMIM:610700, RefSeq DNA:NT_167187, RefSeq Protein:NP_710159, RefSeq RNA:NM_153692, UniProtKB:P83105 No chr8 38831668 38846181 38974149 38988662 +PA164741646 3064 HGNC:4851 ENSG00000197386 huntingtin HTT HD, IT15 Yes Yes Ensembl:ENSG00000197386, HGNC:HGNC:4851, ModBase:P42858, NCBI Gene:3064, OMIM:143100, RefSeq DNA:NG_009378, RefSeq DNA:NT_006051, RefSeq DNA:NT_006081, RefSeq Protein:NP_002102, RefSeq RNA:NM_002111, UniProtKB:P42858 No chr4 3076408 3245687 3074510 3243960 +PA162391891 728655 HGNC:34232 ENSG00000285219 highly up-regulated in liver cancer long non-coding RNA HULC long intergenic non-protein coding RNA 78, non-protein coding RNA 78 LINC00078, NCRNA00078 Yes No Ensembl:ENSG00000285219, GeneCard:HULC, HGNC:HGNC:34232, NCBI Gene:728655, OMIM:612210, RefSeq DNA:NT_007592, RefSeq RNA:NR_004855 No chr6 8652442 8654079 8652209 8653846 +PA29563 30811 HGNC:13326 ENSG00000142149 hormonally up-regulated Neu-associated kinase HUNK Yes No Comparative Toxicogenomics Database:30811, Ensembl:ENSG00000142149, GenAtlas:HUNK, GeneCard:HUNK, HGNC:HGNC:13326, HumanCyc Gene:HS06895, ModBase:P57058, NCBI Gene:30811, OMIM:606532, RefSeq DNA:NT_011512, RefSeq Protein:NP_055401, RefSeq RNA:NM_014586, UCSC Genome Browser:NM_014586, UniProtKB:P57058 No chr21 33245628 33376377 31873315 32004064 +PA29564 3364 HGNC:5309 ENSG00000136273 HUS1 checkpoint clamp component HUS1 HUS1 checkpoint homolog (S. pombe), hus1+-like protein Yes Yes Comparative Toxicogenomics Database:3364, Ensembl:ENSG00000136273, GenAtlas:HUS1, GeneCard:HUS1, HGNC:HGNC:5309, HumanCyc Gene:HS06144, ModBase:O60921, NCBI Gene:3364, OMIM:603760, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_004498, RefSeq RNA:NM_004507, RefSeq RNA:NR_037917, UCSC Genome Browser:NM_004507, UniProtKB:A4D2F2, UniProtKB:O60921 No chr7 48002885 48019222 47962980 47979625 +PA134939889 135458 HGNC:16485 ENSG00000188996 HUS1 checkpoint clamp component B HUS1B HUS1 checkpoint homolog b (S. pombe) Yes No Ensembl:ENSG00000188996, GeneCard:HUS1B, HGNC:HGNC:16485, ModBase:Q8NHY5, NCBI Gene:135458, OMIM:609713, RefSeq DNA:NT_007592, RefSeq Protein:NP_683762, RefSeq RNA:NM_148959, UniProtKB:Q8NHY5 No chr6 655939 656964 655939 656964 +PA128394567 10075 HGNC:30892 ENSG00000086758 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase Ib772, KIAA0312, UREB1 Yes No Comparative Toxicogenomics Database:10075, Ensembl:ENSG00000086758, GeneCard:HUWE1, HGNC:HGNC:30892, ModBase:Q9NSL6, NCBI Gene:10075, OMIM:300220, OMIM:300697, OMIM:300706, RefSeq DNA:NG_016261, RefSeq DNA:NT_011630, RefSeq Protein:NP_113584, RefSeq RNA:NM_031407, UCSC Genome Browser:NM_031407, UniProtKB:Q7Z6Z7 No chrX 53559057 53713697 53532096 53686729 +PA29569 3369 HGNC:5314 hepatitis B virus integration site 7 HVBS7 Yes No GenAtlas:HVBS7, GeneCard:HVBS7, HGNC:HGNC:5314, NCBI Gene:3369 No chr18 +PA29570 3370 HGNC:5315 hepatitis B virus integration site 8 HVBS8 Yes No GenAtlas:HVBS8, GeneCard:HVBS8, HGNC:HGNC:5315, NCBI Gene:3370 No chr17 +PA144596422 84329 HGNC:28240 ENSG00000122986 hydrogen voltage gated channel 1 HVCN1 hydrogen voltage-gated channel 1, voltage sensor domain-only protein Hv1, MGC15619, VSOP Yes No Comparative Toxicogenomics Database:84329, Ensembl:ENSG00000122986, GeneCard:HVCN1, HGNC:HGNC:28240, HumanCyc Gene:HS04620, ModBase:Q96D96, NCBI Gene:84329, OMIM:611227, RefSeq DNA:NT_009775, RefSeq Protein:NP_001035196, RefSeq Protein:NP_115745, RefSeq RNA:NM_001040107, RefSeq RNA:NM_032369, UniProtKB:Q96D96 No chr12 111086491 111130276 110648686 110704945 +PA29571 3373 HGNC:5320 ENSG00000114378 hyaluronidase 1 HYAL1 hyaluronoglucosaminidase 1 FUS2, HYAL-1, LUCA1, NAT6 Yes No Comparative Toxicogenomics Database:3373, Ensembl:ENSG00000114378, GenAtlas:HYAL1, GeneCard:HYAL1, HGNC:HGNC:5320, HumanCyc Gene:HS03763, ModBase:Q8NFK8, NCBI Gene:3373, OMIM:601492, OMIM:607071, RefSeq DNA:NG_009295, RefSeq DNA:NT_022517, RefSeq Protein:NP_009296, RefSeq Protein:NP_149349, RefSeq Protein:NP_695013, RefSeq Protein:NP_695014, RefSeq Protein:NP_695015, RefSeq Protein:NP_695017, RefSeq RNA:NM_007312, RefSeq RNA:NM_033159, RefSeq RNA:NM_153281, RefSeq RNA:NM_153282, RefSeq RNA:NM_153283, RefSeq RNA:NM_153285, UCSC Genome Browser:NM_007312, UniProtKB:B3KUI5, UniProtKB:Q12794 No chr3 50337320 50349812 50299889 50312951 +PA29572 8692 HGNC:5321 ENSG00000068001 hyaluronidase 2 HYAL2 PH-20 homolog, hyaluronidase 2, hyaluronoglucosaminidase 2, lysosomal hyaluronidase LUCA2, LuCa-2 Yes No Comparative Toxicogenomics Database:8692, Ensembl:ENSG00000068001, GenAtlas:HYAL2, GeneCard:HYAL2, HGNC:HGNC:5321, HumanCyc Gene:HS00926, ModBase:Q12891, NCBI Gene:8692, OMIM:603551, RefSeq DNA:NT_022517, RefSeq Protein:NP_003764, RefSeq Protein:NP_149348, RefSeq RNA:NM_003773, RefSeq RNA:NM_033158, UCSC Genome Browser:NM_003773, UniProtKB:B3KRZ2, UniProtKB:Q12891 No chr3 50355221 50360281 50317790 50322850 +PA29573 8372 HGNC:5322 ENSG00000186792 hyaluronidase 3 HYAL3 hyaluronoglucosaminidase 3 LUCA-3, LUCA14, Minna14 Yes No Ensembl:ENSG00000186792, GenAtlas:HYAL3, GeneCard:HYAL3, HGNC:HGNC:5322, ModBase:O43820, NCBI Gene:8372, OMIM:604038, RefSeq DNA:NT_022517, RefSeq Protein:NP_001186958, RefSeq Protein:NP_001186959, RefSeq Protein:NP_001186960, RefSeq Protein:NP_001186961, RefSeq Protein:NP_003540, RefSeq RNA:NM_001200029, RefSeq RNA:NM_001200030, RefSeq RNA:NM_001200031, RefSeq RNA:NM_001200032, RefSeq RNA:NM_003549, UCSC Genome Browser:NM_003549, UniProtKB:O43820 No chr3 50330259 50336899 50292828 50299468 +PA29574 23553 HGNC:5323 ENSG00000106302 hyaluronidase 4 HYAL4 hyaluronidase 4, hyaluronoglucosaminidase 4 Yes No Comparative Toxicogenomics Database:23553, Ensembl:ENSG00000106302, GenAtlas:HYAL4, GeneCard:HYAL4, HGNC:HGNC:5323, HumanCyc Gene:HS02883, ModBase:Q2M3T9, NCBI Gene:23553, OMIM:604510, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_036401, RefSeq RNA:NM_012269, UCSC Genome Browser:NM_012269, UniProtKB:D0VXG1, UniProtKB:Q2M3T9 No chr7 123485220 123517532 123763708 123877481 +PA162385852 84668 HGNC:24587 ENSG00000122591 hyccin PI4KA lipid kinase complex subunit 1 HYCC1 """down regulated by Ctnnb1, a"", ""family with sequence similarity 126 member A"", ""family with sequence similarity 126, member A""" DRCTNNB1A, FAM126A, HCC, HYCC1, hyccin Yes No Ensembl:ENSG00000122591, GeneCard:FAM126A, HGNC:HGNC:24587, HumanCyc Gene:HS13063, ModBase:Q9BYI3, NCBI Gene:84668, OMIM:610531, OMIM:610532, RefSeq DNA:NG_008392, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_115970, RefSeq RNA:NM_032581, UniProtKB:Q9BYI3 No chr7 22980878 23053814 22895848 23014195 +PA162385879 285172 HGNC:28593 ENSG00000155744 hyccin PI4KA lipid kinase complex subunit 2 HYCC2 """family with sequence similarity 126 member B"", ""family with sequence similarity 126, member B""" FAM126B, HYCC2, MGC39518 Yes No Ensembl:ENSG00000155744, GeneCard:FAM126B, HGNC:HGNC:28593, ModBase:Q8IXS8, NCBI Gene:285172, RefSeq DNA:NT_005403, RefSeq Protein:NP_776183, RefSeq RNA:NM_173822, UniProtKB:B3KUG1, UniProtKB:Q8IXS8 No chr2 201838441 201936392 200973718 201071671 +PA134866950 54768 HGNC:19368 ENSG00000157423 HYDIN axonemal central pair apparatus protein HYDIN """HYDIN, axonemal central pair apparatus protein"", ""protein phosphatase 1, regulatory subunit 31""" CILD5, DKFZp434D0513, KIAA1864, PPP1R31 Yes No Comparative Toxicogenomics Database:54768, Ensembl:ENSG00000157423, GeneCard:HYDIN, HGNC:HGNC:19368, NCBI Gene:54768, OMIM:610812, RefSeq DNA:NT_010498, RefSeq Protein:NP_001185471, RefSeq Protein:NP_001185472, RefSeq Protein:NP_060028, RefSeq Protein:NP_116210, RefSeq RNA:NM_001198542, RefSeq RNA:NM_001198543, RefSeq RNA:NM_017558, RefSeq RNA:NM_032821, UniProtKB:Q4G0P3 No chr16 70841287 71264625 70802084 71230722 +PA162391892 100288805 HGNC:33129 ENSG00000276975 HYDIN2, axonemal central pair apparatus protein (pseudogene) HYDIN2 Yes No Ensembl:ENSG00000276975, GeneCard:HYDIN2, HGNC:HGNC:33129, ModBase:Q9H9B8, NCBI Gene:100288805, OMIM:610813, RefSeq DNA:NT_167207, RefSeq RNA:XR_078604 No chr1 132569 407510 146547489 146822034 +PA142671668 81888 HGNC:26948 ENSG00000178922 hydroxypyruvate isomerase (putative) HYI HT036 Yes No Comparative Toxicogenomics Database:81888, Ensembl:ENSG00000178922, GeneCard:HYI, HGNC:HGNC:26948, HumanCyc Gene:HS17157, NCBI Gene:81888, RefSeq DNA:NT_032977, RefSeq Protein:NP_001177809, RefSeq Protein:NP_112484, RefSeq RNA:NM_001190880, RefSeq RNA:NM_031207, UniProtKB:Q5T013 No chr1 43916674 43919938 43450607 43454241 +PA165478483 123688 HGNC:34403 ENSG00000188266 hydroxylysine kinase HYKK 5-hydroxylysine kinase, aminoglycoside phosphotransferase domain containing 1 AGPHD1, LOC123688 Yes Yes Ensembl:ENSG00000188266, GeneCard:AGPHD1, HGNC:HGNC:34403, NCBI Gene:123688, RefSeq DNA:NT_010194, RefSeq Protein:NP_001013641, RefSeq Protein:NP_001077081, RefSeq RNA:NM_001013619, RefSeq RNA:NM_001083612, UniProtKB:A2RU49 No chr15 78799906 78829715 78507564 78537373 +PA142671669 219844 HGNC:26558 ENSG00000198331 HYLS1 centriolar and ciliogenesis associated HYLS1 """HYLS1, centriolar and ciliogenesis associated"", ""hydrolethalus syndrome 1""" FLJ32915 Yes No Comparative Toxicogenomics Database:219844, Ensembl:ENSG00000198331, GeneCard:HYLS1, HGNC:HGNC:26558, NCBI Gene:219844, OMIM:236680, OMIM:610693, RefSeq DNA:NG_011842, RefSeq DNA:NT_033899, RefSeq Protein:NP_001128265, RefSeq Protein:NP_659451, RefSeq RNA:NM_001134793, RefSeq RNA:NM_145014, UniProtKB:Q96M11 No chr11 125753509 125770541 125883614 125900646 +PA29577 57061 HGNC:5326 ENSG00000283122 hydatidiform mole associated and imprinted (non-protein coding) HYMAI non-protein coding RNA 20 NCRNA00020 Yes No Comparative Toxicogenomics Database:57061, Ensembl:ENSG00000283122, GenAtlas:HYMAI, GeneCard:HYMAI, HGNC:HGNC:5326, NCBI Gene:57061, OMIM:601410, OMIM:606546, RefSeq DNA:NG_016174, RefSeq DNA:NT_025741, RefSeq RNA:NR_002768 No chr6 144324023 144329867 144004916 144008730 +PA38427 10525 HGNC:16931 ENSG00000149428 hypoxia up-regulated 1 HYOU1 glucose-regulated protein 170 Grp170, HSP12A, ORP150 Yes No Comparative Toxicogenomics Database:10525, Ensembl:ENSG00000149428, GenAtlas:HYOU1, GeneCard:HYOU1, HGNC:HGNC:16931, HumanCyc Gene:HS07610, ModBase:Q9Y4L1, NCBI Gene:10525, OMIM:601746, RefSeq DNA:NT_033899, RefSeq Protein:NP_001124463, RefSeq Protein:NP_006380, RefSeq RNA:NM_001130991, RefSeq RNA:NM_006389, UCSC Genome Browser:NM_006389, UniProtKB:A8C1Z0, UniProtKB:Q6IN67, UniProtKB:Q9Y4L1 No chr11 118914896 118927951 119044185 119057246 +PA165478509 25764 HGNC:18418 ENSG00000242028 huntingtin interacting protein K HYPK Huntingtin yeast partner K C15orf63, FLJ20431, HSPC136 Yes No Ensembl:ENSG00000242028, GeneCard:C15orf63, HGNC:HGNC:18418, NCBI Gene:25764, OMIM:612784, RefSeq DNA:NT_010194, RefSeq Protein:NP_001186814, RefSeq Protein:NP_057484, RefSeq RNA:NM_001199885, RefSeq RNA:NM_016400, UniProtKB:Q9NX55 No chr15 44092619 44094787 43800421 43802589 +PA162391893 285148 HGNC:27696 ENSG00000134330 isoamyl acetate hydrolyzing esterase 1 (putative) IAH1 isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) Yes No Ensembl:ENSG00000134330, GeneCard:IAH1, HGNC:HGNC:27696, ModBase:Q2TAA2, NCBI Gene:285148, RefSeq DNA:NT_005334, RefSeq Protein:NP_001034702, RefSeq RNA:NM_001039613, UniProtKB:Q2TAA2 No chr2 9614670 9628604 9473638 9512403 +PA29579 3375 HGNC:5329 ENSG00000121351 islet amyloid polypeptide IAPP AMYLIN DAP, IAP, amylin Yes Yes Comparative Toxicogenomics Database:3375, Ensembl:ENSG00000121351, GenAtlas:IAPP, GeneCard:IAPP, HGNC:HGNC:5329, HumanCyc Gene:HS04486, ModBase:P10997, NCBI Gene:3375, OMIM:147940, RefSeq DNA:NT_009714, RefSeq Protein:NP_000406, RefSeq RNA:NM_000415, UCSC Genome Browser:NM_000415, UniProtKB:P10997 No chr12 21525802 21532914 21354928 21379980 +PA29580 3376 HGNC:5330 isoleucyl-tRNA synthetase 1 IARS1 """isoleucine tRNA ligase 1, cytoplasmic"", ""isoleucyl-tRNA synthetase""" IARS, IARS1, ILRS Yes No GenAtlas:IARS, GeneCard:IARS, HGNC:HGNC:5330, HumanCyc Gene:HS00408, ModBase:P41252, NCBI Gene:3376, OMIM:600709, RefSeq DNA:NT_008470, RefSeq Protein:NP_002152, RefSeq Protein:NP_038203, RefSeq RNA:NM_002161, RefSeq RNA:NM_013417, UCSC Genome Browser:NM_002161, UniProtKB:P41252, UniProtKB:Q7Z3U5 No chr9 94972489 95056038 92210207 92293756 +PA142671670 55699 HGNC:29685 ENSG00000067704 isoleucyl-tRNA synthetase 2, mitochondrial IARS2 isoleucine tRNA ligase 2, mitochondrial FLJ10326 Yes No Comparative Toxicogenomics Database:55699, Ensembl:ENSG00000067704, GeneCard:IARS2, HGNC:HGNC:29685, HumanCyc Gene:HS00916, ModBase:Q9NSE4, NCBI Gene:55699, OMIM:612801, RefSeq DNA:NT_167186, RefSeq Protein:NP_060530, RefSeq RNA:NM_018060, UniProtKB:Q9NSE4 No chr1 220267455 220321383 220094113 220148041 +PA142672519 200205 HGNC:27302 ENSG00000181873 iron-sulfur cluster assembly factor IBA57 IBA57 """IBA57, iron-sulfur cluster assembly"", ""IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)"", ""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa""" C1orf69, FLJ12734 Yes Yes Ensembl:ENSG00000181873, GeneCard:C1orf69, HGNC:HGNC:27302, ModBase:Q5T440, NCBI Gene:200205, RefSeq DNA:NT_167186, RefSeq Protein:NP_001010867, RefSeq RNA:NM_001010867, UniProtKB:Q5T440 No chr1 228353429 228369958 228165808 228182257 +PA29584 50941 HGNC:5334 inflammatory bowel disease 5 IBD5 Yes No Comparative Toxicogenomics Database:50941, GenAtlas:IBD5, GeneCard:IBD5, HGNC:HGNC:5334, NCBI Gene:50941, OMIM:266600, OMIM:606348 No chr5 +PA29590 3381 HGNC:5341 ENSG00000029559 integrin binding sialoprotein IBSP bone sialoprotein, bone sialoprotein II, integrin-binding sialoprotein BSP, BSP-II, SP-II Yes No Comparative Toxicogenomics Database:3381, Ensembl:ENSG00000029559, GenAtlas:IBSP, GeneCard:IBSP, HGNC:HGNC:5341, HumanCyc Gene:HS00471, NCBI Gene:3381, OMIM:147563, RefSeq DNA:NT_016354, RefSeq Protein:NP_004958, RefSeq RNA:NM_004967, UCSC Genome Browser:NM_004967, UniProtKB:P21815 No chr4 88720702 88733601 87799550 87812449 +PA134898277 25998 HGNC:17853 ENSG00000005700 inhibitor of Bruton tyrosine kinase IBTK inhibitor of Bruton agammaglobulinemia tyrosine kinase BTBD26, BTKI, DKFZP564B116 Yes No Ensembl:ENSG00000005700, GeneCard:IBTK, HGNC:HGNC:17853, HumanCyc Gene:HS00147, ModBase:Q8TAI4, NCBI Gene:25998, OMIM:606457, RefSeq DNA:NT_007299, RefSeq Protein:NP_056340, RefSeq RNA:NM_015525, UniProtKB:Q9P2D0 No chr6 82879956 82957448 82169987 82248294 +PA29591 3382 HGNC:5343 ENSG00000003147 islet cell autoantigen 1 ICA1 islet cell autoantigen 1, 69kDa ICA69, ICAp69 Yes Yes Comparative Toxicogenomics Database:3382, Ensembl:ENSG00000003147, GenAtlas:ICA1, GeneCard:ICA1, HGNC:HGNC:5343, HumanCyc Gene:HS00092, ModBase:Q05084, NCBI Gene:3382, OMIM:147625, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001129492, RefSeq Protein:NP_004959, RefSeq Protein:NP_071682, RefSeq RNA:NM_001136020, RefSeq RNA:NM_004968, RefSeq RNA:NM_022307, UCSC Genome Browser:NM_004968, UniProtKB:Q05084, UniProtKB:Q96HG3 No chr7 8152814 8302242 8113184 8262687 +PA24738 130026 HGNC:14442 ENSG00000163596 islet cell autoantigen 1 like ICA1L islet cell autoantigen 1,69kDa-like ALS2CR14, ALS2CR15 Yes No Comparative Toxicogenomics Database:130026, Ensembl:ENSG00000163596, GenAtlas:ICA1L, GeneCard:ICA1L, HGNC:HGNC:14442, HumanCyc Gene:HS15083, ModBase:Q8NDH6, NCBI Gene:130026, RefSeq DNA:NT_005403, RefSeq Protein:NP_612477, RefSeq Protein:NP_839945, RefSeq RNA:NM_138468, RefSeq RNA:NM_178231, UCSC Genome Browser:NM_178231, UniProtKB:Q8NDH6, UniProtKB:Q96Q33 No chr2 203637873 203736708 202773150 202871985 +PA29592 3383 HGNC:5344 ENSG00000090339 intercellular adhesion molecule 1 ICAM1 human rhinovirus receptor BB2, CD54 Yes No Comparative Toxicogenomics Database:3383, Ensembl:ENSG00000090339, GenAtlas:ICAM1, GeneCard:ICAM1, HGNC:HGNC:5344, HumanCyc Gene:HS01684, ModBase:P05362, NCBI Gene:3383, OMIM:147840, OMIM:248310, OMIM:611162, RefSeq DNA:NG_012083, RefSeq DNA:NT_011295, RefSeq Protein:NP_000192, RefSeq RNA:NM_000201, UCSC Genome Browser:NM_000201, UniProtKB:P05362 No chr19 10380707 10397291 10270841 10286615 +PA29593 3384 HGNC:5345 ENSG00000108622 intercellular adhesion molecule 2 ICAM2 CD102 Yes No Comparative Toxicogenomics Database:3384, Ensembl:ENSG00000108622, GenAtlas:ICAM2, GeneCard:ICAM2, HGNC:HGNC:5345, HumanCyc Gene:HS03135, ModBase:P13598, NCBI Gene:3384, OMIM:146630, RefSeq DNA:NT_010783, RefSeq Protein:NP_000864, RefSeq Protein:NP_001093256, RefSeq Protein:NP_001093257, RefSeq Protein:NP_001093258, RefSeq Protein:NP_001093259, RefSeq RNA:NM_000873, RefSeq RNA:NM_001099786, RefSeq RNA:NM_001099787, RefSeq RNA:NM_001099788, RefSeq RNA:NM_001099789, UCSC Genome Browser:NM_000873, UniProtKB:P13598, UniProtKB:Q6FHE2 No chr17 62079955 62097994 64002595 64020634 +PA29594 3385 HGNC:5346 ENSG00000076662 intercellular adhesion molecule 3 ICAM3 CD50, CDW50, ICAM-R Yes No Comparative Toxicogenomics Database:3385, Ensembl:ENSG00000076662, GenAtlas:ICAM3, GeneCard:ICAM3, HGNC:HGNC:5346, HumanCyc Gene:HS01215, ModBase:P32942, NCBI Gene:3385, OMIM:146631, RefSeq DNA:NT_011295, RefSeq Protein:NP_002153, RefSeq RNA:NM_002162, UCSC Genome Browser:NM_002162, UniProtKB:P32942 No chr19 10444452 10450345 10333776 10339834 +PA29595 3386 HGNC:5347 ENSG00000105371 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) ICAM4 CD242, LW Yes No Ensembl:ENSG00000105371, GenAtlas:ICAM4, GeneCard:ICAM4, HGNC:HGNC:5347, HumanCyc Gene:HS02722, ModBase:Q14773, NCBI Gene:3386, OMIM:111250, RefSeq DNA:NG_007728, RefSeq DNA:NT_011295, RefSeq Protein:NP_001034221, RefSeq Protein:NP_001535, RefSeq Protein:NP_071772, RefSeq RNA:NM_001039132, RefSeq RNA:NM_001544, RefSeq RNA:NM_022377, UCSC Genome Browser:NM_001544, UniProtKB:Q14773, UniProtKB:Q9BWR0 No chr19 10397643 10399260 10286967 10288584 +PA29596 7087 HGNC:5348 ENSG00000105376 intercellular adhesion molecule 5 ICAM5 """intercellular adhesion molecule 5, telencephalin"", ""telencephalin""" TLCN, TLN Yes Yes Comparative Toxicogenomics Database:7087, Ensembl:ENSG00000105376, GenAtlas:ICAM5, GeneCard:ICAM5, HGNC:HGNC:5348, HumanCyc Gene:HS02726, ModBase:Q9UMF0, NCBI Gene:7087, OMIM:601852, RefSeq DNA:NT_011295, RefSeq Protein:NP_003250, RefSeq RNA:NM_003259, UCSC Genome Browser:NM_003259, UniProtKB:Q8N6I2, UniProtKB:Q9UMF0 No chr19 10400655 10407454 10289352 10296778 +PA162411094 23379 HGNC:29154 ENSG00000164151 interactor of little elongation complex ELL subunit 1 ICE1 KIAA0947 Yes No Ensembl:ENSG00000164151, GeneCard:KIAA0947, HGNC:HGNC:29154, NCBI Gene:23379, RefSeq DNA:NT_006576, RefSeq Protein:NP_056140, RefSeq RNA:NM_015325, UniProtKB:Q9Y2F5 No chr5 5422786 5490347 5422673 5490234 +PA134960292 79664 HGNC:29885 ENSG00000128915 interactor of little elongation complex ELL subunit 2 ICE2 NMDA receptor regulated 2, breast cancer cell 1 BRCC1, FLJ11896, NARG2 Yes No Ensembl:ENSG00000128915, GeneCard:NARG2, HGNC:HGNC:29885, HumanCyc Gene:HS13283, ModBase:Q71H65, NCBI Gene:79664, OMIM:610835, RefSeq DNA:NT_010194, RefSeq Protein:NP_001018099, RefSeq Protein:NP_078887, RefSeq RNA:NM_001018089, RefSeq RNA:NM_024611, UniProtKB:Q659A1 No chr15 60711808 60771359 60419609 60479160 +PA29598 23463 HGNC:5350 ENSG00000116237 isoprenylcysteine carboxyl methyltransferase ICMT protein-S-isoprenylcysteine O-methyltransferase HSTE14, PCCMT, PPMT Yes No Comparative Toxicogenomics Database:23463, Ensembl:ENSG00000116237, GenAtlas:ICMT, GeneCard:ICMT, HGNC:HGNC:5350, HumanCyc Gene:HS03999, ModBase:O60725, NCBI Gene:23463, OMIM:605851, RefSeq DNA:NT_021937, RefSeq Protein:NP_036537, RefSeq RNA:NM_012405, UCSC Genome Browser:NM_012405, UniProtKB:O60725, UniProtKB:Q6FHT0 No chr1 6281253 6296044 6221193 6235984 +PA29599 29851 HGNC:5351 ENSG00000163600 inducible T cell costimulator ICOS activation-inducible lymphocyte immunomediatory molecule, inducible T-cell co-stimulator AILIM, CD278 Yes No Comparative Toxicogenomics Database:29851, Ensembl:ENSG00000163600, GenAtlas:ICOS, GeneCard:ICOS, HGNC:HGNC:5351, HumanCyc Gene:HS08889, ModBase:Q9Y6W8, NCBI Gene:29851, OMIM:604558, OMIM:607594, RefSeq DNA:NG_011586, RefSeq DNA:NT_005403, RefSeq Protein:NP_036224, RefSeq RNA:NM_012092, UCSC Genome Browser:NM_012092, UniProtKB:Q53QY6, UniProtKB:Q9Y6W8 No chr2 204801454 204826302 203936748 203961577 +PA134977297 23308 HGNC:17087 ENSG00000160223 inducible T cell costimulator ligand ICOSLG B7 homolog 2, B7 homologue 2, B7-related protein 1, inducible T-cell co-stimulator ligand B7-H2, B7H2, B7RP-1, B7RP1, B7h, CD275, GL50, ICOS-L, ICOSL, KIAA0653 Yes No Ensembl:ENSG00000160223, GeneCard:ICOSLG, HGNC:HGNC:17087, HumanCyc Gene:HS08473, ModBase:O75144, NCBI Gene:23308, OMIM:605717, RefSeq DNA:NT_011515, RefSeq Protein:NP_056074, RefSeq RNA:NM_015259, UniProtKB:A0N0L8, UniProtKB:A8MUZ1, UniProtKB:O75144 No chr21 45642874 45660881 44216980 44241447 +PA29608 3397 HGNC:5360 ENSG00000125968 inhibitor of DNA binding 1 ID1 """DNA-binding protein inhibitor ID-1"", ""inhibitor of DNA binding 1, HLH protein"", ""inhibitor of DNA binding 1, dominant negative helix-loop-helix protein"", ""inhibitor of differentiation 1""" bHLHb24, dJ857M17.1.2 Yes No Comparative Toxicogenomics Database:3397, Ensembl:ENSG00000125968, GenAtlas:ID1, GeneCard:ID1, HGNC:HGNC:5360, HumanCyc Gene:HS04980, ModBase:Q9H0Z5, NCBI Gene:3397, OMIM:600349, RefSeq DNA:NT_011362, RefSeq Protein:NP_002156, RefSeq Protein:NP_851998, RefSeq RNA:NM_002165, RefSeq RNA:NM_181353, UCSC Genome Browser:NM_002165, UniProtKB:P41134 No chr20 30193086 30194318 31605283 31606515 +PA29609 3398 HGNC:5361 ENSG00000115738 inhibitor of DNA binding 2 ID2 """cell growth-inhibiting gene 8"", ""inhibitor of DNA binding 2, dominant negative helix-loop-helix protein""" GIG8, bHLHb26 Yes No Comparative Toxicogenomics Database:3398, Ensembl:ENSG00000115738, GenAtlas:ID2, GeneCard:ID2, HGNC:HGNC:5361, HumanCyc Gene:HS03932, ModBase:Q02363, NCBI Gene:3398, OMIM:600386, RefSeq DNA:NT_005334, RefSeq Protein:NP_002157, RefSeq RNA:NM_002166, UCSC Genome Browser:NM_002166, UniProtKB:Q02363, UniProtKB:Q53T66 No chr2 8822113 8824583 8681983 8684453 +PA134980624 84099 HGNC:30656 ENSG00000237456 inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene) ID2B Yes No Ensembl:ENSG00000237456, GeneCard:ID2B, HGNC:HGNC:30656, NCBI Gene:84099, RefSeq DNA:NT_022517, RefSeq RNA:NR_026582 No chr3 62109097 62110392 62123423 62124718 +PA29610 3399 HGNC:5362 ENSG00000117318 inhibitor of DNA binding 3 ID3 """inhibitor of DNA binding 3, HLH protein"", ""inhibitor of DNA binding 3, dominant negative helix-loop-helix protein"", ""inhibitor of differentiation 3""" HEIR-1, bHLHb25 Yes No Comparative Toxicogenomics Database:3399, Ensembl:ENSG00000117318, GenAtlas:ID3, GeneCard:ID3, HGNC:HGNC:5362, HumanCyc Gene:HS04118, ModBase:Q02535, NCBI Gene:3399, OMIM:600277, RefSeq DNA:NT_004610, RefSeq Protein:NP_002158, RefSeq RNA:NM_002167, UCSC Genome Browser:NM_002167, UniProtKB:Q02535 No chr1 23884421 23886285 23557930 23559794 +PA29611 3400 HGNC:5363 ENSG00000172201 inhibitor of DNA binding 4 ID4 """inhibitor of DNA binding 4, HLH protein"", ""inhibitor of DNA binding 4, dominant negative helix-loop-helix protein"", ""inhibitor of differentiation 4""" bHLHb27 Yes No Comparative Toxicogenomics Database:3400, Ensembl:ENSG00000172201, GenAtlas:ID4, GeneCard:ID4, HGNC:HGNC:5363, HumanCyc Gene:HS10468, ModBase:P47928, NCBI Gene:3400, OMIM:600581, RefSeq DNA:NT_007592, RefSeq Protein:NP_001537, RefSeq RNA:NM_001546, UCSC Genome Browser:NM_001546, UniProtKB:P47928 No chr6 19837579 19842431 19837370 19842200 +PA29629 3416 HGNC:5381 ENSG00000119912 insulin degrading enzyme IDE insulin-degrading enzyme, insulysin Yes No Comparative Toxicogenomics Database:3416, Ensembl:ENSG00000119912, GenAtlas:IDE, GeneCard:IDE, HGNC:HGNC:5381, HumanCyc Gene:HS04345, ModBase:P14735, NCBI Gene:3416, OMIM:146680, RefSeq DNA:NG_013012, RefSeq DNA:NT_030059, RefSeq Protein:NP_001159418, RefSeq Protein:NP_004960, RefSeq RNA:NM_001165946, RefSeq RNA:NM_004969, UCSC Genome Browser:NM_004969, UniProtKB:B7ZAU2, UniProtKB:P14735 No chr10 94211441 94333852 92451684 92574484 +PA29630 3417 HGNC:5382 ENSG00000138413 isocitrate dehydrogenase (NADP(+)) 1 IDH1 """isocitrate dehydrogenase (NADP(+)) 1, cytosolic"", ""isocitrate dehydrogenase 1 (NADP+), soluble""" Yes No Comparative Toxicogenomics Database:3417, Ensembl:ENSG00000138413, GenAtlas:IDH1, GeneCard:IDH1, HGNC:HGNC:5382, HumanCyc Gene:HS06502, ModBase:O75874, NCBI Gene:3417, OMIM:147700, RefSeq DNA:NG_023319, RefSeq DNA:NT_005403, RefSeq Protein:NP_005887, RefSeq RNA:NM_005896, UCSC Genome Browser:NM_005896, UniProtKB:O75874, UniProtKB:Q6FHQ6 No chr2 209100951 209120478 208236227 208255143 +PA29631 3418 HGNC:5383 ENSG00000182054 isocitrate dehydrogenase (NADP(+)) 2 IDH2 """isocitrate dehydrogenase (NADP(+)) 2, mitochondrial"", ""isocitrate dehydrogenase 2 (NADP+), mitochondrial""" IDH-2 Yes No Comparative Toxicogenomics Database:3418, Ensembl:ENSG00000182054, GenAtlas:IDH2, GeneCard:IDH2, HGNC:HGNC:5383, HumanCyc Gene:HS00021, ModBase:P48735, NCBI Gene:3418, OMIM:147650, RefSeq DNA:NG_023302, RefSeq DNA:NT_010274, RefSeq Protein:NP_002159, RefSeq RNA:NM_002168, UCSC Genome Browser:NM_002168, UniProtKB:P48735 No chr15 90626283 90645730 90083978 90102554 +PA29632 3419 HGNC:5384 ENSG00000166411 isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha IDH3A """H-IDH alpha"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""NAD+-specific ICDH"", ""isocitrate dehydrogenase (NAD(+)) 3 alpha"", ""isocitrate dehydrogenase (NAD+) alpha chain"", ""isocitrate dehydrogenase 3 (NAD(+)) alpha"", ""isocitrate dehydrogenase 3 (NAD+) alpha"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""isocitric dehydrogenase""" Yes No Comparative Toxicogenomics Database:3419, Ensembl:ENSG00000166411, GenAtlas:IDH3A, GeneCard:IDH3A, HGNC:HGNC:5384, HumanCyc Gene:HS09394, ModBase:P50213, NCBI Gene:3419, OMIM:601149, RefSeq DNA:NT_010194, RefSeq Protein:NP_005521, RefSeq RNA:NM_005530, UCSC Genome Browser:NM_005530, UniProtKB:P50213 No chr15 78441698 78462884 78149326 78170542 +PA29633 3420 HGNC:5385 ENSG00000101365 isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta IDH3B isocitrate dehydrogenase (NAD(+)) 3 beta, isocitrate dehydrogenase 3 (NAD(+)) beta, isocitrate dehydrogenase 3 (NAD+) beta RP46 Yes No Comparative Toxicogenomics Database:3420, Ensembl:ENSG00000101365, GenAtlas:IDH3B, GeneCard:IDH3B, HGNC:HGNC:5385, HumanCyc Gene:HS02254, ModBase:O43837, NCBI Gene:3420, OMIM:604526, RefSeq DNA:NG_012149, RefSeq DNA:NT_011387, RefSeq Protein:NP_008830, RefSeq Protein:NP_777280, RefSeq Protein:NP_777281, RefSeq RNA:NM_006899, RefSeq RNA:NM_174855, RefSeq RNA:NM_174856, UCSC Genome Browser:NM_006899, UniProtKB:O43837, UniProtKB:Q9NUZ0 No chr20 2639041 2644865 2658390 2664223 +PA29634 3421 HGNC:5386 ENSG00000067829 isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma IDH3G isocitrate dehydrogenase (NAD(+)) 3 gamma, isocitrate dehydrogenase 3 (NAD(+)) gamma, isocitrate dehydrogenase 3 (NAD+) gamma Yes No Comparative Toxicogenomics Database:3421, Ensembl:ENSG00000067829, GenAtlas:IDH3G, GeneCard:IDH3G, HGNC:HGNC:5386, HumanCyc Gene:HS00919, ModBase:P51553, NCBI Gene:3421, OMIM:300089, RefSeq DNA:NT_167198, RefSeq Protein:NP_004126, RefSeq Protein:NP_777358, RefSeq RNA:NM_004135, RefSeq RNA:NM_174869, UCSC Genome Browser:NM_004135, UniProtKB:O15384, UniProtKB:P51553 No chrX 153051221 153059978 153785766 153794523 +PA29635 3422 HGNC:5387 ENSG00000067064 isopentenyl-diphosphate delta isomerase 1 IDI1 IPP isomerase Yes No Comparative Toxicogenomics Database:3422, Ensembl:ENSG00000067064, GenAtlas:IDI1, GeneCard:IDI1, HGNC:HGNC:5387, HumanCyc Gene:HS00895, ModBase:Q13907, NCBI Gene:3422, OMIM:604055, RefSeq DNA:NT_008705, RefSeq Protein:NP_004499, RefSeq RNA:NM_004508, UCSC Genome Browser:NM_004508, UniProtKB:Q13907 No chr10 1085963 1095061 1039419 1056716 +PA134935136 91734 HGNC:23487 ENSG00000148377 isopentenyl-diphosphate delta isomerase 2 IDI2 IPPI2 Yes No Ensembl:ENSG00000148377, GeneCard:IDI2, HGNC:HGNC:23487, HumanCyc Gene:HS07522, ModBase:Q9BXS1, NCBI Gene:91734, RefSeq DNA:NT_008705, RefSeq Protein:NP_150286, RefSeq RNA:NM_033261, UniProtKB:Q9BXS1 No chr10 1064847 1071799 1018907 1025859 +PA134897349 55853 HGNC:30885 ENSG00000232656 IDI2 antisense RNA 1 IDI2-AS1 Em:AC022536.4, HT009 Yes No Comparative Toxicogenomics Database:55853, Ensembl:ENSG00000232656, GeneCard:C10orf110, HGNC:HGNC:30885, NCBI Gene:55853, RefSeq DNA:NT_008705, RefSeq RNA:NR_024628, RefSeq RNA:NR_024629, RefSeq RNA:NR_027708, RefSeq RNA:NR_027709 No chr10 1068577 1090141 1022637 1044201 +PA134880846 414328 HGNC:31367 ENSG00000148057 IDNK gluconokinase IDNK """IDNK, gluconokinase"", ""idnK, gluconokinase homolog (E. coli)""" C9orf103, bA522I20.2, hGntK Yes No Ensembl:ENSG00000148057, GeneCard:C9orf103, HGNC:HGNC:31367, ModBase:Q5T6J7, NCBI Gene:414328, OMIM:611343, RefSeq DNA:NT_008470, RefSeq Protein:NP_001001551, RefSeq Protein:NP_001177656, RefSeq RNA:NM_001001551, RefSeq RNA:NM_001190727, UniProtKB:Q5T6J7 No chr9 86237964 86259045 83622324 83644130 +PA29869 3620 HGNC:6059 ENSG00000131203 indoleamine 2,3-dioxygenase 1 IDO1 IDO, INDO Yes Yes Comparative Toxicogenomics Database:3620, Ensembl:ENSG00000131203, GenAtlas:INDO, GeneCard:IDO1, GeneCard:INDO, HGNC:HGNC:6059, HumanCyc Gene:HS05502, ModBase:P14902, NCBI Gene:3620, OMIM:147435, RefSeq DNA:NT_007995, RefSeq DNA:NT_167187, RefSeq Protein:NP_002155, RefSeq RNA:NM_002164, UCSC Genome Browser:NM_002164, UniProtKB:P14902 No chr8 39771328 39786309 39913809 39928790 +PA164720782 169355 HGNC:27269 ENSG00000188676 indoleamine 2,3-dioxygenase 2 IDO2 INDOL1 Yes No Ensembl:ENSG00000188676, GeneCard:IDO2, HGNC:HGNC:27269, NCBI Gene:169355, OMIM:612129, RefSeq DNA:NT_167187, RefSeq Protein:NP_919270, RefSeq RNA:NM_194294, UniProtKB:Q6ZQW0 No chr8 39792474 39873910 39934955 40016391 +PA29636 3423 HGNC:5389 ENSG00000010404 iduronate 2-sulfatase IDS Hunter syndrome ID2S, SIDS Yes No Comparative Toxicogenomics Database:3423, Ensembl:ENSG00000010404, GenAtlas:IDS, GeneCard:IDS, HGNC:HGNC:5389, HumanCyc Gene:HS00286, ModBase:P22304, NCBI Gene:3423, OMIM:309900, RefSeq DNA:NG_011900, RefSeq DNA:NT_011681, RefSeq Protein:NP_000193, RefSeq Protein:NP_001160022, RefSeq Protein:NP_006114, RefSeq RNA:NM_000202, RefSeq RNA:NM_001166550, RefSeq RNA:NM_006123, UCSC Genome Browser:NM_000202, UniProtKB:B4DGD7, UniProtKB:P22304 No chrX 148560295 148586884 149476990 149505354 +PA29637 3424 HGNC:5390 ENSG00000176289 iduronate 2-sulfatase pseudogene 1 IDSP1 IDS2 Yes No Ensembl:ENSG00000176289, GenAtlas:IDSP1, GeneCard:IDSP1, HGNC:HGNC:5390, NCBI Gene:3424, RefSeq DNA:NG_001149, RefSeq DNA:NT_011681 No chrX 148606539 148607956 149525000 149526417 +PA29638 3425 HGNC:5391 ENSG00000127415 alpha-L-iduronidase IDUA """iduronidase alpha-L-"", ""iduronidase, alpha-L-"", ""mucopolysaccharidosis type I""" MPS1, MPSI Yes No Comparative Toxicogenomics Database:3425, Ensembl:ENSG00000127415, GenAtlas:IDUA, GeneCard:IDUA, HGNC:HGNC:5391, HumanCyc Gene:HS05096, ModBase:P35475, NCBI Gene:3425, OMIM:252800, OMIM:607014, OMIM:607015, OMIM:607016, RefSeq DNA:NG_008103, RefSeq DNA:NT_037622, RefSeq Protein:NP_000194, RefSeq RNA:NM_000203, UCSC Genome Browser:NM_000203, UniProtKB:P35475 No chr4 980785 998317 986997 1004557 +PA134982230 9592 HGNC:28871 ENSG00000160888 immediate early response 2 IER2 ETR101 Yes No Comparative Toxicogenomics Database:9592, Ensembl:ENSG00000160888, GeneCard:IER2, HGNC:HGNC:28871, HumanCyc Gene:HS14837, ModBase:Q9BTL4, NCBI Gene:9592, RefSeq DNA:NT_011295, RefSeq Protein:NP_004898, RefSeq RNA:NM_004907, UniProtKB:Q9BTL4 No chr19 13261282 13265722 13150468 13154908 +PA29639 8870 HGNC:5392 ENSG00000137331 immediate early response 3 IER3 DIF-2, IEX-1, IEX-1L, PRG1 Yes No Comparative Toxicogenomics Database:8870, Ensembl:ENSG00000137331, GenAtlas:IER3, GeneCard:IER3, HGNC:HGNC:5392, HumanCyc Gene:HS06317, NCBI Gene:8870, OMIM:602996, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_003888, RefSeq RNA:NM_003897, UCSC Genome Browser:NM_003897, UniProtKB:P46695 No chr6 30710976 30712327 30743199 30744550 +PA134899219 51124 HGNC:18550 ENSG00000134049 immediate early response 3 interacting protein 1 IER3IP1 Yes No Comparative Toxicogenomics Database:51124, Ensembl:ENSG00000134049, GeneCard:IER3IP1, HGNC:HGNC:18550, HumanCyc Gene:HS05808, NCBI Gene:51124, OMIM:609382, RefSeq DNA:NT_010966, RefSeq Protein:NP_057181, RefSeq RNA:NM_016097, UniProtKB:Q9Y5U9 No chr18 44681390 44702745 47155019 47176374 +PA29640 51278 HGNC:5393 ENSG00000162783 immediate early response 5 IER5 Yes No Comparative Toxicogenomics Database:51278, Ensembl:ENSG00000162783, GenAtlas:IER5, GeneCard:IER5, HGNC:HGNC:5393, HumanCyc Gene:HS14969, ModBase:Q5VY09, NCBI Gene:51278, OMIM:607177, RefSeq DNA:NT_004487, RefSeq Protein:NP_057629, RefSeq RNA:NM_016545, UCSC Genome Browser:NM_016545, UniProtKB:Q5VY09 No chr1 181057638 181059979 181088502 181090843 +PA134879111 389792 HGNC:23679 ENSG00000188483 immediate early response 5 like IER5L immediate early response 5-like bA247A12.2 Yes No Comparative Toxicogenomics Database:389792, Ensembl:ENSG00000188483, GeneCard:IER5L, HGNC:HGNC:23679, ModBase:Q5T953, NCBI Gene:389792, RefSeq DNA:NT_008470, RefSeq Protein:NP_982258, RefSeq RNA:NM_203434, UniProtKB:Q5T953 No chr9 131937831 131940540 129175552 129178261 +PA164720809 25900 HGNC:24970 ENSG00000010295 intermediate filament family orphan 1 IFFO1 HOM-TES-103, IFFO Yes No Ensembl:ENSG00000010295, GeneCard:IFFO1, HGNC:HGNC:24970, HumanCyc Gene:HS12035, NCBI Gene:25900, OMIM:610495, RefSeq DNA:NT_009759, RefSeq Protein:NP_001034759, RefSeq Protein:NP_001180386, RefSeq Protein:NP_542768, RefSeq Protein:NP_542769, RefSeq RNA:NM_001039670, RefSeq RNA:NM_001193457, RefSeq RNA:NM_080730, RefSeq RNA:NM_080731, RefSeq RNA:NR_036467, UniProtKB:Q0D2I5 No chr12 6648694 6665249 6539528 6556102 +PA164720824 126917 HGNC:27006 ENSG00000169991 intermediate filament family orphan 2 IFFO2 Yes No Ensembl:ENSG00000169991, GeneCard:IFFO2, HGNC:HGNC:27006, NCBI Gene:126917, RefSeq DNA:NT_004610, RefSeq Protein:NP_001129737, RefSeq RNA:NM_001136265 No chr1 19230774 19282826 18904280 18956672 +PA29642 3428 HGNC:5395 ENSG00000163565 interferon gamma inducible protein 16 IFI16 interferon, gamma-inducible protein 16 IFNGIP1, PYHIN2 Yes No Comparative Toxicogenomics Database:3428, Ensembl:ENSG00000163565, GenAtlas:IFI16, GeneCard:IFI16, HGNC:HGNC:5395, HumanCyc Gene:HS08882, ModBase:Q8NEQ7, NCBI Gene:3428, OMIM:147586, RefSeq DNA:NT_004487, RefSeq Protein:NP_001193496, RefSeq Protein:NP_005522, RefSeq RNA:NM_001206567, RefSeq RNA:NM_005531, UCSC Genome Browser:NM_005531, UniProtKB:Q16666 No chr1 158979682 159024945 158999968 159055155 +PA29643 3429 HGNC:5397 ENSG00000165949 interferon alpha inducible protein 27 IFI27 interferon, alpha-inducible protein 27 FAM14D, ISG12, P27 Yes No Comparative Toxicogenomics Database:3429, Ensembl:ENSG00000165949, GenAtlas:IFI27, GeneCard:IFI27, HGNC:HGNC:5397, HumanCyc Gene:HS09308, ModBase:P40305, NCBI Gene:3429, OMIM:600009, RefSeq DNA:NT_026437, RefSeq Protein:NP_001123552, RefSeq Protein:NP_005523, RefSeq RNA:NM_001130080, RefSeq RNA:NM_005532, UCSC Genome Browser:NM_005532, UniProtKB:A8K0H0, UniProtKB:P40305 No chr14 94577079 94583033 94110733 94116699 +PA164720846 122509 HGNC:19754 ENSG00000165948 interferon alpha inducible protein 27 like 1 IFI27L1 interferon, alpha-inducible protein 27-like 1 FAM14B Yes No Ensembl:ENSG00000165948, GeneCard:IFI27L1, HGNC:HGNC:19754, HumanCyc Gene:HS15386, ModBase:Q96BM0, NCBI Gene:122509, OMIM:611320, RefSeq DNA:NT_026437, RefSeq Protein:NP_660292, RefSeq Protein:NP_996832, RefSeq RNA:NM_145249, RefSeq RNA:NM_206949, UniProtKB:Q96BM0 No chr14 94547639 94569060 94081293 94102714 +PA164720861 83982 HGNC:19753 ENSG00000119632 interferon alpha inducible protein 27 like 2 IFI27L2 interferon, alpha-inducible protein 27-like 2 FAM14A, TLH29 Yes No Ensembl:ENSG00000119632, GeneCard:IFI27L2, HGNC:HGNC:19753, HumanCyc Gene:HS12946, ModBase:Q9H2X8, NCBI Gene:83982, OMIM:611319, RefSeq DNA:NT_026437, RefSeq Protein:NP_114425, RefSeq RNA:NM_032036, UniProtKB:Q9H2X8 No chr14 94594118 94595957 94127781 94129620 +PA29644 10437 HGNC:5398 ENSG00000216490 IFI30 lysosomal thiol reductase IFI30 """IFI30, lysosomal thiol reductase"", ""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"", ""interferon, gamma-inducible protein 30"", ""legumaturain""" GILT, IFI-30, IP-30, IP30, MGC32056 Yes No Comparative Toxicogenomics Database:10437, Ensembl:ENSG00000216490, GenAtlas:IFI30, GeneCard:IFI30, HGNC:HGNC:5398, NCBI Gene:10437, OMIM:604664, RefSeq DNA:NT_011295, RefSeq Protein:NP_006323, RefSeq RNA:NM_006332, UCSC Genome Browser:NM_006332, UniProtKB:Q8WU77 No chr19 18284590 18288934 18173780 18178124 +PA29645 3430 HGNC:5399 ENSG00000068079 interferon induced protein 35 IFI35 interferon-induced protein 35 IFP35 Yes No Comparative Toxicogenomics Database:3430, Ensembl:ENSG00000068079, GenAtlas:IFI35, GeneCard:IFI35, HGNC:HGNC:5399, HumanCyc Gene:HS00930, NCBI Gene:3430, OMIM:600735, RefSeq DNA:NT_010783, RefSeq Protein:NP_005524, RefSeq RNA:NM_005533, UCSC Genome Browser:NM_005533, UniProtKB:P80217 No chr17 41158742 41166476 43006725 43014459 +PA29647 10561 HGNC:16938 ENSG00000137965 interferon induced protein 44 IFI44 TBC/LysM-associated domain containing 5, interferon-induced protein 44 MTAP44, TLDC5, p44 Yes No Comparative Toxicogenomics Database:10561, Ensembl:ENSG00000137965, GenAtlas:IFI44, GeneCard:IFI44, HGNC:HGNC:16938, HumanCyc Gene:HS06428, ModBase:Q8TCB0, NCBI Gene:10561, OMIM:610468, RefSeq DNA:NT_032977, RefSeq Protein:NP_006408, RefSeq RNA:NM_006417, UCSC Genome Browser:NM_006417, UniProtKB:Q8TCB0 No chr1 79115477 79129763 78648554 78664078 +PA25615 10964 HGNC:17817 ENSG00000137959 interferon induced protein 44 like IFI44L interferon-induced protein 44-like C1orf29, GS3686, TLDC5B Yes No Comparative Toxicogenomics Database:10964, Ensembl:ENSG00000137959, GenAtlas:IFI44L, GeneCard:IFI44L, HGNC:HGNC:17817, HumanCyc Gene:HS13704, NCBI Gene:10964, RefSeq DNA:NT_032977, RefSeq Protein:NP_006811, RefSeq RNA:NM_006820, UCSC Genome Browser:NM_006820, UniProtKB:Q53G44 No chr1 79086067 79111830 78620382 78646145 +PA28466 2537 HGNC:4054 ENSG00000126709 interferon alpha inducible protein 6 IFI6 interferon, alpha-inducible protein 6 6-16, FAM14C, G1P3, IFI-6-16, IFI616 Yes No Comparative Toxicogenomics Database:2537, Ensembl:ENSG00000126709, GenAtlas:IFI6, GeneCard:IFI6, HGNC:HGNC:4054, HumanCyc Gene:HS05040, NCBI Gene:2537, OMIM:147572, RefSeq DNA:NT_004610, RefSeq Protein:NP_002029, RefSeq Protein:NP_075010, RefSeq Protein:NP_075011, RefSeq RNA:NM_002038, RefSeq RNA:NM_022872, RefSeq RNA:NM_022873, UCSC Genome Browser:NM_002038, UniProtKB:P09912, UniProtKB:Q5VVR2, UniProtKB:Q6IE95 No chr1 27992572 27998724 27666061 27672213 +PA134889215 64135 HGNC:18873 ENSG00000115267 interferon induced with helicase C domain 1 IFIH1 helicard, melanoma differentiation-associated gene 5 Hlcd, IDDM19, MDA-5, MDA5 Yes No Comparative Toxicogenomics Database:64135, Ensembl:ENSG00000115267, GeneCard:IFIH1, HGNC:HGNC:18873, HumanCyc Gene:HS03861, ModBase:Q9BYX4, NCBI Gene:64135, OMIM:275000, OMIM:606951, OMIM:610155, RefSeq DNA:NG_011495, RefSeq DNA:NT_005403, RefSeq Protein:NP_071451, RefSeq RNA:NM_022168, UniProtKB:Q9BYX4 No chr2 163123589 163175218 162267079 162318708 +PA29648 3434 HGNC:5407 ENSG00000185745 interferon induced protein with tetratricopeptide repeats 1 IFIT1 interferon-induced 56 kDa protein, interferon-induced protein with tetratricopeptide repeats 1 G10P1, GARG-16, IFI56, IFNAI1, ISG56 Yes Yes Comparative Toxicogenomics Database:3434, Ensembl:ENSG00000185745, GenAtlas:IFIT1, GeneCard:IFIT1, HGNC:HGNC:5407, ModBase:P09914, NCBI Gene:3434, OMIM:147690, RefSeq DNA:NT_030059, RefSeq Protein:NP_001539, RefSeq RNA:NM_001548, UCSC Genome Browser:NM_001548, UniProtKB:P09914, UniProtKB:Q5T7J1 No chr10 91152303 91166244 89392546 89406487 +PA165548753 439996 HGNC:23442 ENSG00000204010 interferon induced protein with tetratricopeptide repeats 1B IFIT1B interferon-induced protein with tetratricopeptide repeats 1B IFIT1L, bA149I23.6 Yes No Ensembl:ENSG00000204010, GeneCard:IFIT1B, HGNC:HGNC:23442, ModBase:Q5T764, NCBI Gene:439996, RefSeq DNA:NT_030059, RefSeq Protein:NP_001010987, RefSeq RNA:NM_001010987, UniProtKB:Q5T764 No chr10 91137813 91144962 89378056 89385205 +PA29649 8373 HGNC:5408 ENSG00000215515 interferon-induced protein with tetratricopeptide repeats 1 pseudogene 1 IFIT1P1 II56P Yes No Ensembl:ENSG00000215515, GenAtlas:IFIT1P, GeneCard:IFIT1P1, HGNC:HGNC:5408, NCBI Gene:8373, RefSeq DNA:NG_001215, RefSeq DNA:NT_024524 No chr13 32958739 32960779 32384602 32386641 +PA29650 3433 HGNC:5409 ENSG00000119922 interferon induced protein with tetratricopeptide repeats 2 IFIT2 interferon-induced protein with tetratricopeptide repeats 2 G10P2, GARG-39, IFI-54, IFI54, ISG-54, ISG-54K, cig42 Yes No Comparative Toxicogenomics Database:3433, Ensembl:ENSG00000119922, GenAtlas:IFIT2, GeneCard:IFIT2, HGNC:HGNC:5409, HumanCyc Gene:HS04349, ModBase:P09913, NCBI Gene:3433, OMIM:147040, RefSeq DNA:NT_030059, RefSeq Protein:NP_001538, RefSeq RNA:NM_001547, UCSC Genome Browser:NM_001547, UniProtKB:P09913, UniProtKB:Q05DN2 No chr10 91061706 91069033 89301949 89309276 +PA29651 3437 HGNC:5411 ENSG00000119917 interferon induced protein with tetratricopeptide repeats 3 IFIT3 interferon-induced protein with tetratricopeptide repeats 3 CIG-49, GARG-49, IFI60, IFIT4, IRG2, ISG60, RIG-G Yes No Comparative Toxicogenomics Database:3437, Ensembl:ENSG00000119917, GenAtlas:IFIT3, GeneCard:IFIT3, HGNC:HGNC:5411, HumanCyc Gene:HS04347, ModBase:O14879, NCBI Gene:3437, OMIM:604650, RefSeq DNA:NT_030059, RefSeq Protein:NP_001026853, RefSeq Protein:NP_001540, RefSeq RNA:NM_001031683, RefSeq RNA:NM_001549, UCSC Genome Browser:NM_001549, UniProtKB:O14879, UniProtKB:Q5T765 No chr10 91087602 91100725 89327819 89340968 +PA134988392 24138 HGNC:13328 ENSG00000152778 interferon induced protein with tetratricopeptide repeats 5 IFIT5 interferon-induced protein with tetratricopeptide repeats 5, retinoic acid- and interferon-inducible protein (58kD) RI58 Yes No Ensembl:ENSG00000152778, GeneCard:IFIT5, HGNC:HGNC:13328, HumanCyc Gene:HS07851, ModBase:Q13325, NCBI Gene:24138, RefSeq DNA:NT_030059, RefSeq Protein:NP_036552, RefSeq RNA:NM_012420, UniProtKB:Q13325 No chr10 91174031 91180759 89414568 89421002 +PA29653 8519 HGNC:5412 ENSG00000185885 interferon induced transmembrane protein 1 IFITM1 dispanin subfamily A member 2a, interferon-induced transmembrane protein 1 9-27, CD225, DSPA2a, IFI17 Yes No Comparative Toxicogenomics Database:8519, Ensembl:ENSG00000185885, GenAtlas:IFITM1, GeneCard:IFITM1, HGNC:HGNC:5412, HumanCyc Gene:HS05970, NCBI Gene:8519, OMIM:604456, RefSeq DNA:NT_009237, RefSeq Protein:NP_003632, RefSeq RNA:NM_003641, UCSC Genome Browser:NM_003641, UniProtKB:P13164, UniProtKB:Q53XZ0 No chr11 313991 315272 313991 315272 +PA166049045 402778 HGNC:40022 ENSG00000244242 interferon induced transmembrane protein 10 IFITM10 dispanin subfamily A member 3 DSPA3 Yes No Ensembl:ENSG00000244242, HGNC:HGNC:40022, NCBI Gene:402778 No chr11 1753640 1771824 1732410 1750594 +PA29654 10581 HGNC:5413 ENSG00000185201 interferon induced transmembrane protein 2 IFITM2 dispanin subfamily A member 2c 1-8D, DSPA2c Yes No Comparative Toxicogenomics Database:10581, Ensembl:ENSG00000185201, GenAtlas:IFITM2, GeneCard:IFITM2, HGNC:HGNC:5413, NCBI Gene:10581, OMIM:605578, RefSeq DNA:NT_009237, RefSeq Protein:NP_006426, RefSeq RNA:NM_006435, UCSC Genome Browser:NM_006435, UniProtKB:Q01629 No chr11 308095 309410 308107 309410 +PA29655 10410 HGNC:5414 ENSG00000142089 interferon induced transmembrane protein 3 IFITM3 dispanin subfamily A member 2b 1-8U, DSPA2b Yes Yes Comparative Toxicogenomics Database:10410, Ensembl:ENSG00000142089, GenAtlas:IFITM3, GeneCard:IFITM3, HGNC:HGNC:5414, NCBI Gene:10410, OMIM:605579, RefSeq DNA:NT_009237, RefSeq Protein:NP_066362, RefSeq RNA:NM_021034, UCSC Genome Browser:NM_021034, UniProtKB:Q01628, UniProtKB:Q53Y76 No chr11 319673 320914 319673 320914 +PA134944555 340198 HGNC:21669 ENSG00000235821 interferon induced transmembrane protein 4 pseudogene IFITM4P dJ377H14.5 Yes No Ensembl:ENSG00000235821, GeneCard:IFITM4P, HGNC:HGNC:21669, NCBI Gene:340198, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_001590 No chr6 29718584 29718925 29750807 29751148 +PA162391894 387733 HGNC:16644 ENSG00000206013 interferon induced transmembrane protein 5 IFITM5 dispanin subfamily A member 1 BRIL, DSPA1, Hrmp1, fragilis4 Yes No Ensembl:ENSG00000206013, GeneCard:IFITM5, HGNC:HGNC:16644, NCBI Gene:387733, RefSeq DNA:NT_009237, RefSeq Protein:NP_001020466, RefSeq RNA:NM_001025295, UniProtKB:A6NNB3 No chr11 298200 299526 298200 299526 +PA142671667 613204 HGNC:32202 ENSG00000215096 interferon induced transmembrane protein 8 pseudogene IFITM8P Yes No Ensembl:ENSG00000215096, GeneCard:IFITM8P, HGNC:HGNC:32202, NCBI Gene:613204, RefSeq DNA:NG_005307, RefSeq DNA:NT_008183 No chr8 64321623 64322021 63408975 63409628 +PA29656 3439 HGNC:5417 ENSG00000197919 interferon alpha 1 IFNA1 """IFN-alpha 1b"", ""interferon alpha 1b"", ""interferon, alpha 1""" IFL, IFN, IFN-ALPHA, IFN-alphaD, IFNA13, IFNA@ Yes No Comparative Toxicogenomics Database:3439, Ensembl:ENSG00000197919, GenAtlas:IFNA1, GeneCard:IFNA1, HGNC:HGNC:5417, HumanCyc Gene:HS07480, NCBI Gene:3439, OMIM:147660, RefSeq DNA:NT_008413, RefSeq Protein:NP_076918, RefSeq RNA:NM_024013, UCSC Genome Browser:NM_024013 No chr9 21440453 21441315 21440454 21441316 +PA29657 3446 HGNC:5418 ENSG00000186803 interferon alpha 10 IFNA10 interferon, alpha 10 IFN-alphaC Yes No Ensembl:ENSG00000186803, GenAtlas:IFNA10, GeneCard:IFNA10, HGNC:HGNC:5418, ModBase:P01566, NCBI Gene:3446, OMIM:147577, RefSeq DNA:NT_008413, RefSeq Protein:NP_002162, RefSeq RNA:NM_002171, UCSC Genome Browser:NM_002171, UniProtKB:P01566 No chr9 21206180 21207142 21206181 21207143 +PA29677 3461 HGNC:5442 ENSG00000231195 interferon, alpha 11, pseudogene IFNA11P Yes No Ensembl:ENSG00000231195, GenAtlas:IFNP11, GeneCard:IFNA11P, HGNC:HGNC:5442, NCBI Gene:3461, RefSeq DNA:NT_008413 No chr9 21398613 21399138 21398614 21399139 +PA29678 158011 HGNC:5443 interferon pseudogene 12 IFNA12P Yes No GenAtlas:IFNP12, GeneCard:IFNP12, HGNC:HGNC:5443, NCBI Gene:158011 No chr9 21403245 21403554 21403246 21403555 +PA29658 3447 HGNC:5419 ENSG00000233816 interferon alpha 13 IFNA13 interferon, alpha 13 Yes No Ensembl:ENSG00000233816, GenAtlas:IFNA13, GeneCard:IFNA13, HGNC:HGNC:5419, NCBI Gene:3447, OMIM:147578, RefSeq DNA:NT_008413, RefSeq Protein:NP_008831, RefSeq RNA:NM_006900, UCSC Genome Browser:NM_006900, UniProtKB:P01562 No chr9 21367371 21368075 21367372 21368076 +PA29659 3448 HGNC:5420 ENSG00000228083 interferon alpha 14 IFNA14 interferon, alpha 14 IFN-alphaH, LEIF2H Yes No Comparative Toxicogenomics Database:3448, Ensembl:ENSG00000228083, GenAtlas:IFNA14, GeneCard:IFNA14, HGNC:HGNC:5420, HumanCyc Gene:HS06261, ModBase:P01570, NCBI Gene:3448, OMIM:147579, RefSeq DNA:NT_008413, RefSeq Protein:NP_002163, RefSeq RNA:NM_002172, UCSC Genome Browser:NM_002172, UniProtKB:P01570 No chr9 21239201 21239978 21239202 21239979 +PA29660 3449 HGNC:5421 ENSG00000147885 interferon alpha 16 IFNA16 interferon, alpha 16 IFN-alphaO Yes No Comparative Toxicogenomics Database:3449, Ensembl:ENSG00000147885, GenAtlas:IFNA16, GeneCard:IFNA16, HGNC:HGNC:5421, ModBase:P05015, NCBI Gene:3449, OMIM:147580, RefSeq DNA:NT_008413, RefSeq Protein:NP_002164, RefSeq RNA:NM_002173, UCSC Genome Browser:NM_002173, UniProtKB:P05015 No chr9 21216372 21217310 21216373 21217311 +PA29661 3451 HGNC:5422 ENSG00000234829 interferon alpha 17 IFNA17 interferon, alpha 17 IFN-alphaI, LEIF2C1 Yes No Comparative Toxicogenomics Database:3451, Ensembl:ENSG00000234829, GenAtlas:IFNA17, GeneCard:IFNA17, HGNC:HGNC:5422, HumanCyc Gene:HS07478, ModBase:P01571, NCBI Gene:3451, OMIM:147583, RefSeq DNA:NT_008413, RefSeq Protein:NP_067091, RefSeq RNA:NM_021268, UCSC Genome Browser:NM_021268, UniProtKB:P01571 No chr9 21227242 21228221 21227243 21228222 +PA29662 3440 HGNC:5423 ENSG00000188379 interferon alpha 2 IFNA2 """alpha-2a interferon"", ""interferon alpha 2b"", ""interferon alpha A"", ""interferon, alpha 2""" IFN-alphaA, IFNA Yes No Comparative Toxicogenomics Database:3440, Ensembl:ENSG00000188379, GenAtlas:IFNA2, GeneCard:IFNA2, HGNC:HGNC:5423, ModBase:P01563, NCBI Gene:3440, OMIM:147562, RefSeq DNA:NT_008413, RefSeq Protein:NP_000596, RefSeq RNA:NM_000605, UCSC Genome Browser:NM_000605, UniProtKB:P01563, UniProtKB:Q6DJX8 No chr9 21384254 21385396 21384255 21385397 +PA29679 3463 HGNC:5444 ENSG00000226393 interferon, alpha 20, pseudogene IFNA20P Yes No Ensembl:ENSG00000226393, GenAtlas:IFNP20, GeneCard:IFNA20P, HGNC:HGNC:5444, NCBI Gene:3463, RefSeq DNA:NT_008413 No chr9 21321299 21321826 21321300 21321827 +PA29663 3452 HGNC:5424 ENSG00000137080 interferon alpha 21 IFNA21 """interferon, alpha 21"", ""leukocyte interferon protein""" IFN-alphaI Yes No Ensembl:ENSG00000137080, GenAtlas:IFNA21, GeneCard:IFNA21, HGNC:HGNC:5424, HumanCyc Gene:HS06267, ModBase:P01568, NCBI Gene:3452, OMIM:147584, RefSeq DNA:NT_008413, RefSeq Protein:NP_002166, RefSeq RNA:NM_002175, UCSC Genome Browser:NM_002175, UniProtKB:P01568 No chr9 21165636 21166659 21165637 21166660 +PA29669 3453 HGNC:5431 ENSG00000224416 interferon, alpha 22, pseudogene IFNA22P Yes No Ensembl:ENSG00000224416, GenAtlas:IFNAP22, GeneCard:IFNA22P, HGNC:HGNC:5431, NCBI Gene:3453, RefSeq DNA:NG_005640, RefSeq DNA:NT_008413, RefSeq RNA:NR_036676 No chr9 21277687 21278562 21277688 21278563 +PA29664 3441 HGNC:5425 ENSG00000236637 interferon alpha 4 IFNA4 interferon, alpha 4 IFN-alpha4a, MGC142200 Yes No Ensembl:ENSG00000236637, GenAtlas:IFNA4, GeneCard:IFNA4, HGNC:HGNC:5425, ModBase:P05014, NCBI Gene:3441, OMIM:147564, RefSeq DNA:NT_008413, RefSeq Protein:NP_066546, RefSeq RNA:NM_021068, UCSC Genome Browser:NM_021068, UniProtKB:P05014 No chr9 21186617 21187598 21186618 21187599 +PA29665 3442 HGNC:5426 ENSG00000147873 interferon alpha 5 IFNA5 interferon, alpha 5 IFN-alphaG Yes No Comparative Toxicogenomics Database:3442, Ensembl:ENSG00000147873, GenAtlas:IFNA5, GeneCard:IFNA5, HGNC:HGNC:5426, HumanCyc Gene:HS07477, ModBase:P01569, NCBI Gene:3442, OMIM:147565, RefSeq DNA:NT_008413, RefSeq Protein:NP_002160, RefSeq RNA:NM_002169, UCSC Genome Browser:NM_002169, UniProtKB:P01569 No chr9 21304613 21305312 21304614 21305313 +PA29666 3443 HGNC:5427 ENSG00000120235 interferon alpha 6 IFNA6 interferon, alpha 6 IFN-alphaK Yes No Ensembl:ENSG00000120235, GenAtlas:IFNA6, GeneCard:IFNA6, HGNC:HGNC:5427, HumanCyc Gene:HS04380, ModBase:P05013, NCBI Gene:3443, OMIM:147566, RefSeq DNA:NT_008413, RefSeq Protein:NP_066282, RefSeq RNA:NM_021002, UCSC Genome Browser:NM_021002, UniProtKB:P05013 No chr9 21350317 21350886 21350318 21350887 +PA29667 3444 HGNC:5428 ENSG00000214042 interferon alpha 7 IFNA7 interferon, alpha 7 IFN-alphaJ, IFNA-J Yes No Ensembl:ENSG00000214042, GenAtlas:IFNA7, GeneCard:IFNA7, HGNC:HGNC:5428, ModBase:P01567, NCBI Gene:3444, OMIM:147567, RefSeq DNA:NT_008413, RefSeq Protein:NP_066401, RefSeq RNA:NM_021057, UCSC Genome Browser:NM_021057, UniProtKB:P01567 No chr9 21201468 21202204 21201469 21202205 +PA29668 3445 HGNC:5429 ENSG00000120242 interferon alpha 8 IFNA8 """interferon alpha type 201"", ""interferon alpha-B''"", ""interferon, alpha 8""" IFN-alphaB Yes No Comparative Toxicogenomics Database:3445, Ensembl:ENSG00000120242, GenAtlas:IFNA8, GeneCard:IFNA8, HGNC:HGNC:5429, HumanCyc Gene:HS04381, ModBase:P32881, NCBI Gene:3445, OMIM:147568, RefSeq DNA:NT_008413, RefSeq Protein:NP_002161, RefSeq RNA:NM_002170, UCSC Genome Browser:NM_002170, UniProtKB:Q5VYQ3 No chr9 21409146 21410184 21409147 21410185 +PA29670 3454 HGNC:5432 ENSG00000142166 interferon alpha and beta receptor subunit 1 IFNAR1 """IFNalpha/beta receptor 1"", ""interferon (alpha, beta and omega) receptor 1"", ""interferon alpha/beta receptor 1"", ""type I interferon receptor 1""" IFNAR, IFRC Yes Yes Comparative Toxicogenomics Database:3454, Ensembl:ENSG00000142166, GenAtlas:IFNAR1, GeneCard:IFNAR1, HGNC:HGNC:5432, HumanCyc Gene:HS06898, ModBase:P17181, NCBI Gene:3454, OMIM:107450, RefSeq DNA:NT_011512, RefSeq Protein:NP_000620, RefSeq RNA:NM_000629, UCSC Genome Browser:NM_000629, UniProtKB:P17181 No chr21 34696748 34732129 33324443 33360361 +PA29671 3455 HGNC:5433 ENSG00000159110 interferon alpha and beta receptor subunit 2 IFNAR2 """IFNalpha/beta receptor subunit 2"", ""interferon (alpha, beta and omega) receptor 2"", ""interferon alpha/beta receptor 2"", ""type I interferon receptor 2""" IFNABR Yes No Comparative Toxicogenomics Database:3455, Ensembl:ENSG00000159110, GenAtlas:IFNAR2, GeneCard:IFNAR2, HGNC:HGNC:5433, HumanCyc Gene:HS08356, ModBase:P48551, NCBI Gene:3455, OMIM:602376, OMIM:610424, RefSeq DNA:NG_016003, RefSeq DNA:NT_011512, RefSeq Protein:NP_000865, RefSeq Protein:NP_997467, RefSeq Protein:NP_997468, RefSeq RNA:NM_000874, RefSeq RNA:NM_207584, RefSeq RNA:NM_207585, UCSC Genome Browser:NM_000874, UniProtKB:P48551, UniProtKB:Q15467, UniProtKB:Q9BUA0 No chr21 34602231 34636831 33229895 33264513 +PA29672 3456 HGNC:5434 ENSG00000171855 interferon beta 1 IFNB1 interferon, beta 1, fibroblast IFB, IFF, IFNB Yes Yes Comparative Toxicogenomics Database:3456, Ensembl:ENSG00000171855, GenAtlas:IFNB1, GeneCard:IFNB1, HGNC:HGNC:5434, HumanCyc Gene:HS10400, ModBase:P01574, NCBI Gene:3456, OMIM:147640, RefSeq DNA:NT_008413, RefSeq Protein:NP_002167, RefSeq RNA:NM_002176, UCSC Genome Browser:NM_002176, UniProtKB:P01574, UniProtKB:Q5VWC9 No chr9 21077104 21077943 21077105 21077963 +PA164720874 338376 HGNC:18163 ENSG00000184995 interferon epsilon IFNE interferon, epsilon IFNE1 Yes No Ensembl:ENSG00000184995, GeneCard:IFNE, HGNC:HGNC:18163, NCBI Gene:338376, RefSeq DNA:NT_008413, RefSeq Protein:NP_795372, RefSeq RNA:NM_176891, UniProtKB:Q86WN2 No chr9 21480838 21482312 21480839 21482313 +PA29674 3458 HGNC:5438 ENSG00000111537 interferon gamma IFNG interferon, gamma Yes Yes Comparative Toxicogenomics Database:3458, Ensembl:ENSG00000111537, GenAtlas:IFNG, GeneCard:IFNG, HGNC:HGNC:5438, HumanCyc Gene:HS03424, ModBase:P01579, NCBI Gene:3458, OMIM:147570, OMIM:191100, OMIM:607948, OMIM:609135, OMIM:609423, OMIM:609532, OMIM:613254, RefSeq DNA:NG_015840, RefSeq DNA:NT_029419, RefSeq Protein:NP_000610, RefSeq RNA:NM_000619, UCSC Genome Browser:NM_000619, UniProtKB:P01579 No chr12 68548550 68553521 68154770 68159741 +PA29675 3459 HGNC:5439 ENSG00000027697 interferon gamma receptor 1 IFNGR1 CD119, IFNGR Yes Yes Comparative Toxicogenomics Database:3459, Ensembl:ENSG00000027697, GenAtlas:IFNGR1, GeneCard:IFNGR1, HGNC:HGNC:5439, HumanCyc Gene:HS00458, ModBase:P15260, NCBI Gene:3459, OMIM:107470, OMIM:209950, OMIM:600263, OMIM:607948, OMIM:610424, RefSeq DNA:NG_007394, RefSeq DNA:NT_025741, RefSeq Protein:NP_000407, RefSeq RNA:NM_000416, UCSC Genome Browser:NM_000416, UniProtKB:P15260 No chr6 137518621 137540981 137197484 137220351 +PA29676 3460 HGNC:5440 ENSG00000159128 interferon gamma receptor 2 IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) AF-1, IFNGT1 Yes Yes Comparative Toxicogenomics Database:3460, Ensembl:ENSG00000159128, GenAtlas:IFNGR2, GeneCard:IFNGR2, HGNC:HGNC:5440, HumanCyc Gene:HS08357, ModBase:P38484, NCBI Gene:3460, OMIM:147569, OMIM:209950, RefSeq DNA:NG_007570, RefSeq DNA:NT_011512, RefSeq Protein:NP_005525, RefSeq RNA:NM_005534, UCSC Genome Browser:NM_005534, UniProtKB:A8K881, UniProtKB:P38484 No chr21 34775202 34809828 33402896 33437521 +PA134970126 56832 HGNC:21714 ENSG00000147896 interferon kappa IFNK interferon, kappa Yes No Ensembl:ENSG00000147896, GeneCard:IFNK, HGNC:HGNC:21714, HumanCyc Gene:HS07482, ModBase:Q9P0W0, NCBI Gene:56832, RefSeq DNA:NT_008413, RefSeq Protein:NP_064509, RefSeq RNA:NM_020124, UniProtKB:Q9P0W0 No chr9 27524312 27526496 27524314 27526498 +PA134899000 282618 HGNC:18363 ENSG00000182393 interferon lambda 1 IFNL1 interferon, lambda 1 IL-29, IL29 Yes No Ensembl:ENSG00000182393, GeneCard:IL29, HGNC:HGNC:18363, NCBI Gene:282618, OMIM:607403, RefSeq DNA:NT_011109, RefSeq Protein:NP_742152, RefSeq RNA:NM_172140, UniProtKB:Q8IU54 No chr19 39786965 39789312 39296325 39298672 +PA134934396 282616 HGNC:18364 ENSG00000183709 interferon lambda 2 IFNL2 interferon, lambda 2 IL-28A, IL28A Yes No Ensembl:ENSG00000183709, GeneCard:IL28A, HGNC:HGNC:18364, NCBI Gene:282616, OMIM:607401, RefSeq DNA:NT_011109, RefSeq Protein:NP_742150, RefSeq RNA:NM_172138, UniProtKB:Q45KQ8, UniProtKB:Q8IZJ0 No chr19 39759157 39760732 39268517 39270092 +PA134952671 282617 HGNC:18365 ENSG00000197110 interferon lambda 3 IFNL3 interferon, lambda 3 IL-28B, IL28B, IL28C Yes Yes Ensembl:ENSG00000197110, GeneCard:IL28B, HGNC:HGNC:18365, NCBI Gene:282617, OMIM:607402, OMIM:609532, RefSeq DNA:NG_042193, RefSeq DNA:NT_011109, RefSeq Protein:NP_742151, RefSeq RNA:NM_172139, UniProtKB:Q8IZI9 Yes chr19 39734193 39735717 39243455 39245250 +PA166049147 101180976 HGNC:44480 ENSG00000272395 interferon lambda 4 (gene/pseudogene) IFNL4 interferon, lambda 4 (gene/pseudogene) IFNAN Yes Yes Ensembl:ENSG00000272395, HGNC:HGNC:44480, NCBI Gene:101180976 No chr19 39736954 39739496 39246314 39248856 +PA134984880 163702 HGNC:18584 ENSG00000185436 interferon lambda receptor 1 IFNLR1 """interferon lambda receptor 1"", ""interferon, lambda receptor 1""" CRF2/12, IFNLR, IL-28R1, IL28RA Yes No Ensembl:ENSG00000185436, GeneCard:IL28RA, HGNC:HGNC:18584, ModBase:Q8IU57, NCBI Gene:163702, OMIM:607404, RefSeq DNA:NT_004610, RefSeq Protein:NP_734464, RefSeq Protein:NP_775087, RefSeq Protein:NP_775088, RefSeq RNA:NM_170743, RefSeq RNA:NM_173064, RefSeq RNA:NM_173065, UniProtKB:Q5VTX7, UniProtKB:Q8IU57, UniProtKB:Q8IV66 No chr1 24480647 24513765 24154156 24187275 +PA143485500 654783 HGNC:32009 ENSG00000230208 interferon, nu 1, pseudogene IFNNP1 Yes No Ensembl:ENSG00000230208, GeneCard:IFNNP1, HGNC:HGNC:32009, NCBI Gene:654783, RefSeq DNA:NG_009495, RefSeq DNA:NT_008413 No chr9 21058770 21059322 21058771 21059323 +PA29682 3466 HGNC:5447 interferon production regulator IFNR Yes No GenAtlas:IFNR, GeneCard:IFNR, HGNC:HGNC:5447, NCBI Gene:3466, OMIM:147573 No chr16 +PA29683 3467 HGNC:5448 ENSG00000177047 interferon omega 1 IFNW1 """IFN-omega 1, interferon omega-1"", ""interferon, omega 1""" Yes No Ensembl:ENSG00000177047, GenAtlas:IFNW1, GeneCard:IFNW1, HGNC:HGNC:5448, HumanCyc Gene:HS11121, ModBase:P05000, NCBI Gene:3467, OMIM:147553, RefSeq DNA:NT_008413, RefSeq Protein:NP_002168, RefSeq RNA:NM_002177, UCSC Genome Browser:NM_002177, UniProtKB:P05000 No chr9 21140631 21142144 21140632 21141901 +PA29684 100130866 HGNC:5449 ENSG00000232281 interferon, omega 1 pseudogene 15 IFNWP15 Yes No Ensembl:ENSG00000232281, GenAtlas:IFNWP15, GeneCard:IFNWP15, HGNC:HGNC:5449, NCBI Gene:100130866, RefSeq DNA:NG_001150, RefSeq DNA:NT_008413 No chr9 21178509 21179597 21178315 21179306 +PA29685 360001 HGNC:5450 ENSG00000223684 interferon, omega 1 pseudogene 18 IFNWP18 pseudo-IFN-alpha-m Yes No Ensembl:ENSG00000223684, GenAtlas:IFNWP18, GeneCard:IFNWP18, HGNC:HGNC:5450, NCBI Gene:360001, RefSeq DNA:NG_002922, RefSeq DNA:NT_008413 No chr9 21209191 21209898 21209173 21209899 +PA29686 3474 HGNC:5451 ENSG00000238271 interferon, omega 1 pseudogene 19 IFNWP19 Yes No Ensembl:ENSG00000238271, GenAtlas:IFNWP19, GeneCard:IFNWP19, HGNC:HGNC:5451, NCBI Gene:3474, RefSeq DNA:NG_005641, RefSeq DNA:NT_008413 No chr9 21455438 21456067 21455439 21456068 +PA29687 646581 HGNC:5452 ENSG00000237691 interferon, omega 1 pseudogene 2 IFNWP2 Yes No Ensembl:ENSG00000237691, GenAtlas:IFNWP2, GeneCard:IFNWP2, HGNC:HGNC:5452, NCBI Gene:646581, RefSeq DNA:NG_011585, RefSeq DNA:NT_008413 No chr9 21420233 21420812 21420039 21420965 +PA29688 3469 HGNC:5453 interferon, omega 4 (pseudogene) IFNWP4 Yes No GenAtlas:IFNWP4, GeneCard:IFNWP4, HGNC:HGNC:5453, NCBI Gene:3469 No +PA29689 392292 HGNC:5454 ENSG00000232138 interferon, omega 1 pseudogene 5 IFNWP5 Yes No Ensembl:ENSG00000232138, GenAtlas:IFNWP5, GeneCard:IFNWP5, HGNC:HGNC:5454, NCBI Gene:392292 No chr9 21230820 21231852 21231250 21231971 +PA29690 100130671 HGNC:5455 ENSG00000226597 interferon, omega 1 pseudogene 9 IFNWP9 Yes No Ensembl:ENSG00000226597, GenAtlas:IFNWP9, GeneCard:IFNWP9, HGNC:HGNC:5455, NCBI Gene:100130671, RefSeq DNA:NG_016396, RefSeq DNA:NT_008413 No chr9 21190145 21191243 21190638 21191362 +PA29691 3475 HGNC:5456 ENSG00000006652 interferon related developmental regulator 1 IFRD1 interferon-related developmental regulator 1 PC4, TIS7 Yes No Comparative Toxicogenomics Database:3475, Ensembl:ENSG00000006652, GenAtlas:IFRD1, GeneCard:IFRD1, HGNC:HGNC:5456, HumanCyc Gene:HS00189, ModBase:O00458, NCBI Gene:3475, OMIM:603502, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001007246, RefSeq Protein:NP_001184008, RefSeq Protein:NP_001184009, RefSeq Protein:NP_001541, RefSeq RNA:NM_001007245, RefSeq RNA:NM_001197079, RefSeq RNA:NM_001197080, RefSeq RNA:NM_001550, UCSC Genome Browser:NM_001550, UniProtKB:A4D0U1, UniProtKB:O00458 No chr7 112063199 112117258 112423144 112477203 +PA29692 7866 HGNC:5457 ENSG00000214706 interferon related developmental regulator 2 IFRD2 interferon-related developmental regulator 2, interferon-related protein IFNRP, SKMc15, SM15 Yes No Comparative Toxicogenomics Database:7866, Ensembl:ENSG00000214706, GenAtlas:IFRD2, GeneCard:IFRD2, HGNC:HGNC:5457, HumanCyc Gene:HS03761, ModBase:Q12894, NCBI Gene:7866, OMIM:602725, RefSeq DNA:NT_022517, RefSeq Protein:NP_006755, RefSeq RNA:NM_006764, UCSC Genome Browser:NM_006764, UniProtKB:Q12894 No chr3 50325163 50330648 50287732 50292595 +PA37798 55764 HGNC:13556 ENSG00000163913 intraflagellar transport 122 IFT122 intraflagellar transport 122 homolog (Chlamydomonas) CFAP80, FAP80, SPG, WDR10, WDR10p, WDR140 Yes No Ensembl:ENSG00000163913, GenAtlas:IFT122, GeneCard:IFT122, HGNC:HGNC:13556, HumanCyc Gene:HS15124, ModBase:Q9HBG6, NCBI Gene:55764, OMIM:606045, RefSeq DNA:NG_023392, RefSeq DNA:NT_005612, RefSeq Protein:NP_060732, RefSeq Protein:NP_443711, RefSeq Protein:NP_443715, RefSeq Protein:NP_443716, RefSeq RNA:NM_018262, RefSeq RNA:NM_052985, RefSeq RNA:NM_052989, RefSeq RNA:NM_052990, UCSC Genome Browser:NM_018262, UniProtKB:Q53G36, UniProtKB:Q9BTY4, UniProtKB:Q9HBG5, UniProtKB:Q9HBG6, UniProtKB:Q9NV68 No chr3 129158671 129239350 129440036 129520507 +PA142671665 9742 HGNC:29077 ENSG00000187535 intraflagellar transport 140 IFT140 intraflagellar transport 140 homolog (Chlamydomonas) KIAA0590, WDTC2, gs114 Yes No Ensembl:ENSG00000187535, GeneCard:IFT140, HGNC:HGNC:29077, ModBase:Q96RY7, NCBI Gene:9742, RefSeq DNA:NT_010393, RefSeq Protein:NP_055529, RefSeq RNA:NM_014714, UniProtKB:Q96RY7 No chr16 1560428 1662109 1510427 1612108 +PA142671666 26160 HGNC:30391 ENSG00000138002 intraflagellar transport 172 IFT172 intraflagellar transport 172 homolog (Chlamydomonas), wimple homolog BBS20, NPHP17, SLB, osm-1, wim Yes No Ensembl:ENSG00000138002, GeneCard:IFT172, HGNC:HGNC:30391, ModBase:Q9UG01, NCBI Gene:26160, OMIM:607386, RefSeq DNA:NT_022184, RefSeq Protein:NP_056477, RefSeq RNA:NM_015662, UniProtKB:B3KP68, UniProtKB:Q9UG01 No chr2 27667240 27712575 27444373 27489819 +PA142671663 90410 HGNC:30989 ENSG00000109083 intraflagellar transport 20 IFT20 intraflagellar transport 20 homolog (Chlamydomonas) Yes No Comparative Toxicogenomics Database:90410, Ensembl:ENSG00000109083, GeneCard:IFT20, HGNC:HGNC:30989, NCBI Gene:90410, RefSeq DNA:NT_010799, RefSeq Protein:NP_777547, RefSeq RNA:NM_174887, UniProtKB:Q8IY31 No chr17 26655351 26662515 28328325 28335489 +PA134871769 64792 HGNC:21895 ENSG00000128581 intraflagellar transport 22 IFT22 RAB, member RAS oncogene family-like 5 CFAP9, DKFZp761N0823, FAP9, FLJ13225, FLJ14117, RABL5 Yes No Ensembl:ENSG00000128581, GeneCard:RABL5, HGNC:HGNC:21895, HumanCyc Gene:HS13266, ModBase:Q9H7X7, NCBI Gene:64792, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001124292, RefSeq Protein:NP_001124293, RefSeq Protein:NP_001124294, RefSeq Protein:NP_073614, RefSeq RNA:NM_001130820, RefSeq RNA:NM_001130821, RefSeq RNA:NM_001130822, RefSeq RNA:NM_022777, UniProtKB:Q49AG1, UniProtKB:Q9H7X7 No chr7 100956648 100965093 101313367 101321823 +PA162391751 51668 HGNC:25019 ENSG00000081870 intraflagellar transport 25 IFT25 """heat shock protein family B (small) member 11"", ""heat shock protein family B (small), member 11"", ""intraflagellar transport 25 homolog (Chlamydomonas)""" C1orf41, CFAP232, FAP232, HSPB11, HSPCO34, IFT25, PP25 Yes No Ensembl:ENSG00000081870, GeneCard:HSPB11, HGNC:HGNC:25019, HumanCyc Gene:HS12266, ModBase:Q9Y547, NCBI Gene:51668, RefSeq DNA:NT_032977, RefSeq Protein:NP_057210, RefSeq RNA:NM_016126, UniProtKB:Q9Y547 No chr1 54387234 54411975 53921561 53946308 +PA38609 11020 HGNC:18626 ENSG00000100360 intraflagellar transport 27 IFT27 intraflagellar transport 27 homolog (Chlamydomonas) BBS19, CFAP156, FAP156, RABL4, RAYL Yes No Comparative Toxicogenomics Database:11020, Ensembl:ENSG00000100360, GenAtlas:RABL4, GeneCard:IFT27, GeneCard:RABL4, HGNC:HGNC:18626, HumanCyc Gene:HS02060, ModBase:Q9BW83, NCBI Gene:11020, RefSeq DNA:NT_011520, RefSeq Protein:NP_001171172, RefSeq Protein:NP_001171173, RefSeq Protein:NP_006851, RefSeq RNA:NM_001177701, RefSeq RNA:NM_001177702, RefSeq RNA:NM_006860, RefSeq RNA:NR_033531, UCSC Genome Browser:NM_006860, UniProtKB:Q9BW83 No chr22 37154246 37172177 36758202 36776133 +PA145149677 112752 HGNC:29669 ENSG00000119650 intraflagellar transport 43 IFT43 intraflagellar transport 43 homolog (Chlamydomonas) C14orf179, FLJ32173, MGC16028 Yes No Ensembl:ENSG00000119650, GeneCard:C14orf179, HGNC:HGNC:29669, HumanCyc Gene:HS12948, NCBI Gene:112752, RefSeq DNA:NT_026437, RefSeq Protein:NP_001096034, RefSeq Protein:NP_443105, RefSeq RNA:NM_001102564, RefSeq RNA:NM_052873, UniProtKB:B3KPT6, UniProtKB:Q96FT9 No chr14 76452096 76550416 75985753 76084073 +PA165543409 56912 HGNC:26146 ENSG00000118096 intraflagellar transport 46 IFT46 cilia and flagella associated protein 32, intraflagellar transport 46 homolog (Chlamydomonas) C11orf2, C11orf60, CFAP32, FAP32, FLJ21827 Yes No Ensembl:ENSG00000118096, GeneCard:IFT46, HGNC:HGNC:26146, HumanCyc Gene:HS04190, NCBI Gene:56912, RefSeq DNA:NT_033899, RefSeq Protein:NP_001162089, RefSeq Protein:NP_064538, RefSeq RNA:NM_001168618, RefSeq RNA:NM_020153, UniProtKB:A8K0F6, UniProtKB:Q9H6V5, UniProtKB:Q9NQC8 No chr11 118415243 118436791 118544528 118575624 +PA25796 51098 HGNC:15901 ENSG00000101052 intraflagellar transport 52 IFT52 intraflagellar transport 52 homolog (Chlamydomonas) C20orf9, CGI-53, NGD2, NGD5, dJ1028D15.1 Yes No Comparative Toxicogenomics Database:51098, Ensembl:ENSG00000101052, GenAtlas:IFT52, GeneCard:IFT52, HGNC:HGNC:15901, HumanCyc Gene:HS12435, ModBase:Q9Y366, NCBI Gene:51098, RefSeq DNA:NT_011362, RefSeq Protein:NP_057088, RefSeq RNA:NM_016004, UCSC Genome Browser:NM_016004, UniProtKB:Q9Y366 No chr20 42219574 42275862 43590613 43647296 +PA144596245 79989 HGNC:21882 ENSG00000105948 intraflagellar transport 56 IFT56 tetratricopeptide repeat domain 26 DYF13, FLJ12571, IFT56, TTC26, dyf-13 Yes No Ensembl:ENSG00000105948, GeneCard:TTC26, HGNC:HGNC:21882, HumanCyc Gene:HS12616, ModBase:A0AVF1, NCBI Gene:79989, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001138392, RefSeq Protein:NP_001138395, RefSeq Protein:NP_079202, RefSeq RNA:NM_001144920, RefSeq RNA:NM_001144923, RefSeq RNA:NM_024926, UniProtKB:A0AVF1, UniProtKB:B7Z5M0, UniProtKB:C9J2N7 No chr7 138818490 138874550 139133744 139191986 +PA27890 55081 HGNC:17367 ENSG00000114446 intraflagellar transport 57 IFT57 intraflagellar transport 57 homolog (Chlamydomonas) ESRRBL1, FLJ10147, HIPPI, MHS4R2 Yes No Comparative Toxicogenomics Database:55081, Ensembl:ENSG00000114446, GenAtlas:IFT57, GeneCard:IFT57, HGNC:HGNC:17367, HumanCyc Gene:HS12817, ModBase:Q9NWB7, NCBI Gene:55081, OMIM:606621, RefSeq DNA:NT_005612, RefSeq Protein:NP_060480, RefSeq RNA:NM_018010, UCSC Genome Browser:NM_018010, UniProtKB:Q9NWB7 No chr3 107879659 107941417 108160812 108222570 +PA145147829 92104 HGNC:25853 ENSG00000197557 intraflagellar transport 70A IFT70A tetratricopeptide repeat domain 30A CFAP259, FAP259, FLJ13946, IFT70A, TTC30A Yes No Comparative Toxicogenomics Database:92104, Ensembl:ENSG00000197557, GeneCard:TTC30A, HGNC:HGNC:25853, ModBase:Q86WT1, NCBI Gene:92104, RefSeq DNA:NT_005403, RefSeq Protein:NP_689488, RefSeq RNA:NM_152275, UniProtKB:Q86WT1 No chr2 178479026 178483694 177614298 177618966 +PA145147835 150737 HGNC:26425 ENSG00000196659 intraflagellar transport 70B IFT70B tetratricopeptide repeat domain 30B FLJ30990, IFT70, IFT70B, TTC30B, fleer Yes No Comparative Toxicogenomics Database:150737, Ensembl:ENSG00000196659, GeneCard:TTC30B, HGNC:HGNC:26425, ModBase:Q8N4P2, NCBI Gene:150737, RefSeq DNA:NT_005403, RefSeq Protein:NP_689730, RefSeq RNA:NM_152517, UniProtKB:Q8N4P2 No chr2 178414880 178417524 177550152 177552796 +PA134976961 80173 HGNC:21424 ENSG00000096872 intraflagellar transport 74 IFT74 capillary morphogenesis protein 1, intraflagellar transport 74 homolog (Chlamydomonas) CCDC2, CMG-1, CMG1, FLJ22621 Yes No Comparative Toxicogenomics Database:80173, Ensembl:ENSG00000096872, GeneCard:IFT74, HGNC:HGNC:21424, HumanCyc Gene:HS12362, ModBase:Q96LB3, NCBI Gene:80173, OMIM:608040, RefSeq DNA:NT_008413, RefSeq Protein:NP_001092692, RefSeq Protein:NP_001092693, RefSeq Protein:NP_001092694, RefSeq Protein:NP_079379, RefSeq RNA:NM_001099222, RefSeq RNA:NM_001099223, RefSeq RNA:NM_001099224, RefSeq RNA:NM_025103, UniProtKB:A0PJM7, UniProtKB:Q3B789, UniProtKB:Q96LB3 No chr9 26947037 27062931 26947039 27066129 +PA142671664 57560 HGNC:29262 ENSG00000068885 intraflagellar transport 80 IFT80 intraflagellar transport 80 homolog (Chlamydomonas) CFAP167, FAP167, KIAA1374, WDR56 Yes No Comparative Toxicogenomics Database:57560, Ensembl:ENSG00000068885, GeneCard:IFT80, HGNC:HGNC:29262, ModBase:Q9P2H3, NCBI Gene:57560, OMIM:611177, OMIM:611263, RefSeq DNA:NG_022932, RefSeq DNA:NT_005612, RefSeq Protein:NP_001177170, RefSeq Protein:NP_001177171, RefSeq Protein:NP_065851, RefSeq RNA:NM_001190241, RefSeq RNA:NM_001190242, RefSeq RNA:NM_020800, UniProtKB:C9J8I0, UniProtKB:Q9P2H3 No chr3 159974774 160118028 160256986 160399532 +PA26349 28981 HGNC:14313 ENSG00000122970 intraflagellar transport 81 IFT81 intraflagellar transport 81 homolog (Chlamydomonas) CDV-1R, CDV1, MGC4027 Yes No Ensembl:ENSG00000122970, GenAtlas:IFT81, GeneCard:IFT81, HGNC:HGNC:14313, HumanCyc Gene:HS13075, ModBase:Q8WYA0, NCBI Gene:28981, OMIM:605489, RefSeq DNA:NT_009775, RefSeq Protein:NP_001137251, RefSeq Protein:NP_054774, RefSeq Protein:NP_113661, RefSeq RNA:NM_001143779, RefSeq RNA:NM_014055, RefSeq RNA:NM_031473, UniProtKB:Q8WYA0 No chr12 110562140 110656600 110124335 110218795 +PA134991804 8100 HGNC:20606 ENSG00000032742 intraflagellar transport 88 IFT88 intraflagellar transport 88 homolog (Chlamydomonas), polaris homolog D13S1056E, MGC26259, TTC10, Tg737, hTg737 Yes No Comparative Toxicogenomics Database:8100, Ensembl:ENSG00000032742, GeneCard:IFT88, HGNC:HGNC:20606, HumanCyc Gene:HS00486, ModBase:Q13099, NCBI Gene:8100, OMIM:600595, RefSeq DNA:NT_024524, RefSeq Protein:NP_006522, RefSeq Protein:NP_783195, RefSeq RNA:NM_006531, RefSeq RNA:NM_175605, UniProtKB:B3KX42, UniProtKB:Q13099 No chr13 21140585 21265576 20566446 20691437 +PA166351923 119710 HGNC:25142 intraflagellar transport associated protein IFTAP C11orf74, FLJ38678, HEPIS, NWC Yes No HGNC:HGNC:25142, NCBI Gene:119710 No 0 0 0 0 +PA29694 3476 HGNC:5461 ENSG00000089289 immunoglobulin binding protein 1 IGBP1 alpha 4, immunoglobulin (CD79A) binding protein 1 IBP1, α4, α4 Yes No Comparative Toxicogenomics Database:3476, Ensembl:ENSG00000089289, GenAtlas:IGBP1, GeneCard:IGBP1, HGNC:HGNC:5461, HumanCyc Gene:HS01649, ModBase:P78318, NCBI Gene:3476, OMIM:300139, OMIM:300472, RefSeq DNA:NG_012084, RefSeq DNA:NT_011669, RefSeq Protein:NP_001542, RefSeq RNA:NM_001551, UCSC Genome Browser:NM_001551, UniProtKB:P78318 No chrX 69353318 69386174 70133449 70166324 +PA166351924 645545 HGNC:43611 IGBP1 family member C IGBP1C IGBP1P2 Yes No HGNC:HGNC:43611, NCBI Gene:645545 No 0 0 0 0 +PA134889032 280655 HGNC:19709 ENSG00000226677 immunoglobulin (CD79A) binding protein 1 pseudogene 1 IGBP1P1 Yes No Ensembl:ENSG00000226677, GeneCard:IGBP1P1, HGNC:HGNC:19709, NCBI Gene:280655, RefSeq DNA:NT_026437, RefSeq RNA:NR_002937 No chr14 35409128 35409702 34939922 34940496 +PA164720881 9543 HGNC:9700 ENSG00000174498 immunoglobulin superfamily DCC subclass member 3 IGDCC3 immunoglobulin superfamily, DCC subclass, member 3 HsT18880, PUNC Yes No Ensembl:ENSG00000174498, GeneCard:IGDCC3, HGNC:HGNC:9700, HumanCyc Gene:HS10804, NCBI Gene:9543, OMIM:604184, RefSeq DNA:NT_010194, RefSeq Protein:NP_004875, RefSeq RNA:NM_004884, UniProtKB:Q8IVU1 No chr15 65619465 65670378 65327127 65378040 +PA164720914 57722 HGNC:13770 ENSG00000103742 immunoglobulin superfamily DCC subclass member 4 IGDCC4 """immunoglobulin superfamily, DCC subclass, member 4"", ""likely ortholog of mouse neighbor of Punc E11""" LOC57722, NOPE Yes No Ensembl:ENSG00000103742, GeneCard:IGDCC4, HGNC:HGNC:13770, HumanCyc Gene:HS12531, NCBI Gene:57722, RefSeq DNA:NT_010194, RefSeq Protein:NP_066013, RefSeq RNA:NM_020962, UniProtKB:Q8TDY8 No chr15 65673825 65715410 65381480 65423072 +PA29697 3479 HGNC:5464 ENSG00000017427 insulin like growth factor 1 IGF1 insulin-like growth factor 1 (somatomedin C), somatomedin C IGF, IGF-I, IGF1A, IGFI Yes Yes Comparative Toxicogenomics Database:3479, Ensembl:ENSG00000017427, GenAtlas:IGF1, GeneCard:IGF1, HGNC:HGNC:5464, HumanCyc Gene:HS00381, ModBase:P01343, ModBase:P05019, NCBI Gene:3479, OMIM:147440, OMIM:608747, RefSeq DNA:NG_011713, RefSeq DNA:NT_029419, RefSeq Protein:NP_000609, RefSeq Protein:NP_001104753, RefSeq Protein:NP_001104754, RefSeq Protein:NP_001104755, RefSeq RNA:NM_000618, RefSeq RNA:NM_001111283, RefSeq RNA:NM_001111284, RefSeq RNA:NM_001111285, UCSC Genome Browser:NM_000618, UniProtKB:P05019, UniProtKB:Q13429, UniProtKB:Q14620, UniProtKB:Q59GC5, UniProtKB:Q5U743 No chr12 102789645 102875563 102395867 102481839 +PA29698 3480 HGNC:5465 ENSG00000140443 insulin like growth factor 1 receptor IGF1R insulin-like growth factor 1 receptor CD221, IGFIR, IGFR, JTK13, MGC18216 Yes Yes Comparative Toxicogenomics Database:3480, Ensembl:ENSG00000140443, GenAtlas:IGF1R, GeneCard:IGF1R, HGNC:HGNC:5465, HumanCyc Gene:HS06715, ModBase:P08069, NCBI Gene:3480, OMIM:147370, OMIM:270450, RefSeq DNA:NG_009492, RefSeq DNA:NT_010274, RefSeq Protein:NP_000866, RefSeq RNA:NM_000875, UCSC Genome Browser:NM_000875, UniProtKB:P08069 No chr15 99192272 99507759 98648539 98964530 +PA29699 3481 HGNC:5466 ENSG00000167244 insulin like growth factor 2 IGF2 insulin-like growth factor 2, insulin-like growth factor 2 (somatomedin A), preptin, somatomedin A C11orf43, FLJ44734, IGF-II Yes Yes Comparative Toxicogenomics Database:3481, Ensembl:ENSG00000167244, GenAtlas:IGF2, GeneCard:IGF2, HGNC:HGNC:5466, HumanCyc Gene:HS09530, ModBase:P01344, NCBI Gene:3481, OMIM:147470, RefSeq DNA:NG_008849, RefSeq DNA:NT_009237, RefSeq Protein:NP_000603, RefSeq Protein:NP_001007140, RefSeq Protein:NP_001121070, RefSeq RNA:NM_000612, RefSeq RNA:NM_001007139, RefSeq RNA:NM_001127598, UCSC Genome Browser:NM_000612, UniProtKB:C9JAF2, UniProtKB:P01344 No chr11 2150346 2179611 2129112 2149603 +PA29700 51214 HGNC:14062 ENSG00000099869 IGF2 antisense RNA IGF2-AS IGF2 antisense RNA 1 (non-protein coding), insulin-like growth factor 2 antisense 1 (non-protein coding) IGF2-AS1, PEG8 Yes Yes Ensembl:ENSG00000099869, GenAtlas:IGF2AS, GeneCard:IGF2AS, HGNC:HGNC:14062, HumanCyc Gene:HS12376, NCBI Gene:51214, OMIM:610146, RefSeq DNA:NT_009237, RefSeq Protein:NP_057496, RefSeq RNA:NM_016412, RefSeq RNA:NR_028043, RefSeq RNA:NR_028044, UCSC Genome Browser:NM_016412 No chr11 2161758 2169896 2140512 2148666 +PA143485501 10642 HGNC:28866 ENSG00000159217 insulin like growth factor 2 mRNA binding protein 1 IGF2BP1 IGF II mRNA binding protein 1, insulin-like growth factor 2 mRNA binding protein 1 IMP-1, IMP1 Yes No Ensembl:ENSG00000159217, GeneCard:IGF2BP1, HGNC:HGNC:28866, HumanCyc Gene:HS08376, ModBase:Q9NZI8, NCBI Gene:10642, OMIM:608288, RefSeq DNA:NT_010783, RefSeq Protein:NP_001153895, RefSeq Protein:NP_006537, RefSeq RNA:NM_001160423, RefSeq RNA:NM_006546, UniProtKB:C9JT33, UniProtKB:Q9NZI8 No chr17 47074774 47133507 48997412 49056145 +PA128394577 10644 HGNC:28867 ENSG00000073792 insulin like growth factor 2 mRNA binding protein 2 IGF2BP2 IGF II mRNA binding protein 2, insulin-like growth factor 2 mRNA binding protein 2 IMP-2, P62 Yes Yes Comparative Toxicogenomics Database:10644, Ensembl:ENSG00000073792, GeneCard:IGF2BP2, HGNC:HGNC:28867, HumanCyc Gene:HS01116, ModBase:Q9Y6M1, NCBI Gene:10644, OMIM:125853, OMIM:608289, RefSeq DNA:NG_011602, RefSeq DNA:NT_005612, RefSeq Protein:NP_001007226, RefSeq Protein:NP_006539, RefSeq RNA:NM_001007225, RefSeq RNA:NM_006548, UCSC Genome Browser:NM_006548, UniProtKB:Q9Y6M1 No chr3 185361527 185542827 185643739 185825051 +PA128394576 10643 HGNC:28868 ENSG00000136231 insulin like growth factor 2 mRNA binding protein 3 IGF2BP3 IGF II mRNA binding protein 3, cancer/testis antigen 98, insulin-like growth factor 2 mRNA binding protein 3 CT98, IMP-3, IMP3 Yes No Ensembl:ENSG00000136231, GeneCard:IGF2BP3, HGNC:HGNC:28868, HumanCyc Gene:HS06131, ModBase:O00425, NCBI Gene:10643, OMIM:608259, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_006538, RefSeq RNA:NM_006547, UCSC Genome Browser:NM_006547, UniProtKB:O00425 No chr7 23349828 23509995 23310209 23470674 +PA29701 3482 HGNC:5467 ENSG00000197081 insulin like growth factor 2 receptor IGF2R cation-independent mannose-6 phosphate receptor, insulin-like growth factor 2 receptor CD222, CI-M6PR, CI-MPR, CIMPR, M6P-R, MPR1, MPR300, MPRI Yes Yes Comparative Toxicogenomics Database:3482, Ensembl:ENSG00000197081, GenAtlas:IGF2R, GeneCard:IGF2R, HGNC:HGNC:5467, ModBase:P11717, NCBI Gene:3482, OMIM:147280, RefSeq DNA:NG_011785, RefSeq DNA:NT_025741, RefSeq Protein:NP_000867, RefSeq RNA:NM_000876, UCSC Genome Browser:NM_000876, UniProtKB:P11717 No chr6 160390131 160527583 159969099 160111504 +PA29702 3483 HGNC:5468 ENSG00000099769 insulin like growth factor binding protein acid labile subunit IGFALS insulin-like growth factor binding protein, acid labile subunit ALS Yes No Comparative Toxicogenomics Database:3483, Ensembl:ENSG00000099769, GenAtlas:IGFALS, GeneCard:IGFALS, HGNC:HGNC:5468, HumanCyc Gene:HS01905, ModBase:P35858, NCBI Gene:3483, OMIM:601489, RefSeq DNA:NG_011778, RefSeq DNA:NT_010393, RefSeq Protein:NP_001139478, RefSeq Protein:NP_004961, RefSeq RNA:NM_001146006, RefSeq RNA:NM_004970, RefSeq RNA:NR_027389, UCSC Genome Browser:NM_004970, UniProtKB:B4DZY8, UniProtKB:P35858, UniProtKB:Q8TAY0 No chr16 1840414 1844909 1790413 1794908 +PA29703 3484 HGNC:5469 ENSG00000146678 insulin like growth factor binding protein 1 IGFBP1 IGF-binding protein 1, alpha-pregnancy-associated endometrial globulin, amniotic fluid binding protein, binding protein-25, binding protein-26, binding protein-28, growth hormone independent-binding protein, insulin-like growth factor binding protein 1, placental protein 12 AFBP, IBP1, IGF-BP25, PP12, hIGFBP-1 Yes No Comparative Toxicogenomics Database:3484, Ensembl:ENSG00000146678, GenAtlas:IGFBP1, GeneCard:IGFBP1, HGNC:HGNC:5469, HumanCyc Gene:HS07362, ModBase:P08833, NCBI Gene:3484, OMIM:146730, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000587, RefSeq RNA:NM_000596, UCSC Genome Browser:NM_000596, UniProtKB:C1K3N3, UniProtKB:P08833 No chr7 45927959 45933267 45888360 45893668 +PA29704 3485 HGNC:5471 ENSG00000115457 insulin like growth factor binding protein 2 IGFBP2 insulin-like growth factor binding protein 2, 36kDa IBP2 Yes No Comparative Toxicogenomics Database:3485, Ensembl:ENSG00000115457, GenAtlas:IGFBP2, GeneCard:IGFBP2, HGNC:HGNC:5471, HumanCyc Gene:HS03890, ModBase:P18065, NCBI Gene:3485, OMIM:146731, RefSeq DNA:NT_005403, RefSeq Protein:NP_000588, RefSeq RNA:NM_000597, UCSC Genome Browser:NM_000597, UniProtKB:P18065 No chr2 217498127 217529159 216632828 216664436 +PA29705 3486 HGNC:5472 ENSG00000146674 insulin like growth factor binding protein 3 IGFBP3 IGF-binding protein 3, acid stable subunit of the 140 K IGF complex, binding protein 29, binding protein 53, growth hormone-dependent binding protein, insulin-like growth factor binding protein 3 BP-53, IBP3 Yes Yes Comparative Toxicogenomics Database:3486, Ensembl:ENSG00000146674, GenAtlas:IGFBP3, GeneCard:IGFBP3, HGNC:HGNC:5472, HumanCyc Gene:HS07360, ModBase:P17936, NCBI Gene:3486, OMIM:146732, RefSeq DNA:NG_011508, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000589, RefSeq Protein:NP_001013416, RefSeq RNA:NM_000598, RefSeq RNA:NM_001013398, UCSC Genome Browser:NM_000598, UniProtKB:B3KPF0, UniProtKB:P17936 No chr7 45951844 45960871 45912245 45921272 +PA29706 3487 HGNC:5473 ENSG00000141753 insulin like growth factor binding protein 4 IGFBP4 IGF-binding protein 4, insulin-like growth factor binding protein 4 BP-4, HT29-IGFBP, IBP4, IGFBP-4 Yes No Comparative Toxicogenomics Database:3487, Ensembl:ENSG00000141753, GenAtlas:IGFBP4, GeneCard:IGFBP4, HGNC:HGNC:5473, HumanCyc Gene:HS06869, ModBase:P22692, NCBI Gene:3487, OMIM:146733, RefSeq DNA:NT_010783, RefSeq Protein:NP_001543, RefSeq RNA:NM_001552, UCSC Genome Browser:NM_001552, UniProtKB:P22692 No chr17 38599676 38613982 40443424 40457730 +PA29707 3488 HGNC:5474 ENSG00000115461 insulin like growth factor binding protein 5 IGFBP5 insulin-like growth factor binding protein 5 Yes No Comparative Toxicogenomics Database:3488, Ensembl:ENSG00000115461, GenAtlas:IGFBP5, GeneCard:IGFBP5, HGNC:HGNC:5474, HumanCyc Gene:HS03892, ModBase:P24593, NCBI Gene:3488, OMIM:146734, RefSeq DNA:NT_005403, RefSeq Protein:NP_000590, RefSeq RNA:NM_000599, UCSC Genome Browser:NM_000599, UniProtKB:P24593 No chr2 217536828 217560272 216672105 216695549 +PA29708 3489 HGNC:5475 ENSG00000167779 insulin like growth factor binding protein 6 IGFBP6 insulin-like growth factor binding protein 6 Yes No Comparative Toxicogenomics Database:3489, Ensembl:ENSG00000167779, GenAtlas:IGFBP6, GeneCard:IGFBP6, HGNC:HGNC:5475, HumanCyc Gene:HS09635, ModBase:P24592, NCBI Gene:3489, OMIM:146735, RefSeq DNA:NT_029419, RefSeq Protein:NP_002169, RefSeq RNA:NM_002178, UCSC Genome Browser:NM_002178, UniProtKB:P24592 No chr12 53491436 53496128 53097503 53102344 +PA29709 3490 HGNC:5476 ENSG00000163453 insulin like growth factor binding protein 7 IGFBP7 insulin-like growth factor binding protein 7 FSTL2, IGFBP-7, MAC25, PSF Yes Yes Comparative Toxicogenomics Database:3490, Ensembl:ENSG00000163453, GenAtlas:IGFBP7, GeneCard:IGFBP7, HGNC:HGNC:5476, HumanCyc Gene:HS08851, ModBase:Q16270, NCBI Gene:3490, OMIM:602867, RefSeq DNA:NT_022853, RefSeq Protein:NP_001544, RefSeq RNA:NM_001553, UCSC Genome Browser:NM_001553, UniProtKB:Q16270 No chr4 57897237 57976551 57031071 57110385 +PA134937275 347252 HGNC:20081 ENSG00000137142 insulin like growth factor binding protein like 1 IGFBPL1 insulin-like growth factor binding protein-like 1 bA113O24.1 Yes No Comparative Toxicogenomics Database:347252, Ensembl:ENSG00000137142, GeneCard:IGFBPL1, HGNC:HGNC:20081, ModBase:Q8WX77, NCBI Gene:347252, OMIM:610413, RefSeq DNA:NT_008413, RefSeq Protein:NP_001007564, RefSeq RNA:NM_001007563, UniProtKB:Q8WX77 No chr9 38406525 38424444 38406528 38424447 +PA147357921 374918 HGNC:24093 ENSG00000188293 IGF like family member 1 IGFL1 IGF-like family member 1 UNQ644 Yes No Ensembl:ENSG00000188293, GeneCard:IGFL1, HGNC:HGNC:24093, ModBase:Q6UW32, NCBI Gene:374918, OMIM:610544, RefSeq DNA:NT_011109, RefSeq Protein:NP_940943, RefSeq RNA:NM_198541, UniProtKB:Q6UW32 No chr19 46733009 46734500 46229752 46231243 +PA147357933 727703 HGNC:32956 ENSG00000268879 IGF-like family member 1 pseudogene 1 IGFL1P1 IGFL-5P Yes No Ensembl:ENSG00000268879, GeneCard:IGFL1P1, HGNC:HGNC:32956, NCBI Gene:727703 No chr19 46700278 46700537 46197021 46197280 +PA147357934 727704 HGNC:32957 ENSG00000268238 IGF-like family member 1 pseudogene 2 IGFL1P2 IGFL-6P Yes No Ensembl:ENSG00000268238, GeneCard:IGFL1P2, HGNC:HGNC:32957, NCBI Gene:727704 No chr19 46763692 46764118 46260435 46260861 +PA147357935 147920 HGNC:32929 ENSG00000204866 IGF like family member 2 IGFL2 IGF-like family member 2 UNQ645 Yes No Ensembl:ENSG00000204866, GeneCard:IGFL2, HGNC:HGNC:32929, NCBI Gene:147920, OMIM:610545, RefSeq DNA:NT_011109, RefSeq Protein:NP_001002915, RefSeq Protein:NP_001128585, RefSeq RNA:NM_001002915, RefSeq RNA:NM_001135113, UniProtKB:Q6UWQ7 No chr19 46651039 46664561 46078513 46195097 +PA147357949 388555 HGNC:32930 ENSG00000188624 IGF like family member 3 IGFL3 IGF-like family member 3 UNQ483 Yes No Ensembl:ENSG00000188624, GeneCard:IGFL3, HGNC:HGNC:32930, ModBase:Q6UXB1, NCBI Gene:388555, OMIM:610546, RefSeq DNA:NT_011109, RefSeq Protein:NP_997276, RefSeq RNA:NM_207393, UniProtKB:Q6UXB1 No chr19 46623328 46627931 46119778 46127101 +PA147357961 444882 HGNC:32931 ENSG00000204869 IGF like family member 4 IGFL4 IGF-like family member 4 Yes No Ensembl:ENSG00000204869, GeneCard:IGFL4, HGNC:HGNC:32931, ModBase:Q6B9Z1, NCBI Gene:444882, OMIM:610547, RefSeq DNA:NT_011109, RefSeq Protein:NP_001002923, RefSeq RNA:NM_001002923, UniProtKB:Q6B9Z1 No chr19 46543006 46544274 46039748 46041016 +PA134884390 79713 HGNC:23620 ENSG00000126246 IGF like family receptor 1 IGFLR1 IGF-like family receptor 1 FLJ22573, TMEM149, U2AF1L4 Yes No Comparative Toxicogenomics Database:79713, Ensembl:ENSG00000126246, GeneCard:TMEM149, HGNC:HGNC:23620, HumanCyc Gene:HS13201, ModBase:Q9H665, NCBI Gene:79713, RefSeq DNA:NT_011109, RefSeq Protein:NP_078936, RefSeq RNA:NM_024660, UniProtKB:Q9H665 No chr19 36229957 36234075 35739250 35742450 +PA162391896 91156 HGNC:24607 ENSG00000163395 immunoglobulin like and fibronectin type III domain containing 1 IGFN1 immunoglobulin-like and fibronectin type III domain containing 1 DKFZp434B1231, EEF1A2BP1 Yes No Ensembl:ENSG00000163395, GeneCard:IGFN1, HGNC:HGNC:24607, NCBI Gene:91156, RefSeq DNA:NT_004487, RefSeq Protein:NP_001158058, RefSeq Protein:NP_840059, RefSeq RNA:NM_001164586, RefSeq RNA:NM_178275 No chr1 201159952 201198080 201190780 201228952 +PA35106 3492 HGNC:5477 immunoglobulin heavy locus IGH IGH@, IGHD@, IGHDY1, IGHJ@, IGHV@ Yes No GenAtlas:IGH@, GeneCard:IGH@, HGNC:HGNC:5477, NCBI Gene:3492, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437, RefSeq Protein:XP_001718272, RefSeq RNA:XM_001718220 No chr14 106032614 107288051 105586437 106879844 +PA29710 3493 HGNC:5478 ENSG00000211895 immunoglobulin heavy constant alpha 1 IGHA1 Yes No Ensembl:ENSG00000211895, GenAtlas:IGHA1, GeneCard:IGHA1, HGNC:HGNC:5478, ModBase:P01876, NCBI Gene:3493, OMIM:146900, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106173505 106175001 105707168 105708664 +PA29711 3494 HGNC:5479 ENSG00000211890 immunoglobulin heavy constant alpha 2 (A2m marker) IGHA2 Yes No Ensembl:ENSG00000211890, GenAtlas:IGHA2, GeneCard:IGHA2, HGNC:HGNC:5479, NCBI Gene:3494, OMIM:147000, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106053274 106054731 105586937 105588394 +PA29712 3495 HGNC:5480 ENSG00000211898 immunoglobulin heavy constant delta IGHD constant region of heavy chain of IgD, immunoglobulin delta FLJ00382, FLJ46727, MGC29633 Yes No Ensembl:ENSG00000211898, GenAtlas:IGHD, GeneCard:IGHD, HGNC:HGNC:5480, NCBI Gene:3495, OMIM:147170, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437, UCSC Genome Browser:NM_002768 No chr14 106304737 106312010 105838401 105845677 +PA35108 28510 HGNC:5482 ENSG00000236170 immunoglobulin heavy diversity 1-1 IGHD1-1 IGHD11 Yes No Ensembl:ENSG00000236170, GenAtlas:IGHD1-1, GeneCard:IGHD1-1, HGNC:HGNC:5482, NCBI Gene:28510, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106385361 106385377 105919502 105919518 +PA35109 28508 HGNC:5483 ENSG00000227108 immunoglobulin heavy diversity 1-14 (non-functional) IGHD1-14 DM2, IGHD114 Yes No Ensembl:ENSG00000227108, GenAtlas:IGHD1-14, GeneCard:IGHD1-14, HGNC:HGNC:5483, NCBI Gene:28508, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106366496 106366512 105900638 105900654 +PA35110 28507 HGNC:5484 ENSG00000237020 immunoglobulin heavy diversity 1-20 IGHD1-20 IGHD120 Yes No Ensembl:ENSG00000237020, GenAtlas:IGHD1-20, GeneCard:IGHD1-20, HGNC:HGNC:5484, NCBI Gene:28507, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106357049 106357065 105891191 105891207 +PA35111 28506 HGNC:5485 ENSG00000211907 immunoglobulin heavy diversity 1-26 IGHD1-26 IGHD126 Yes No Ensembl:ENSG00000211907, GenAtlas:IGHD1-26, GeneCard:IGHD1-26, HGNC:HGNC:5485, NCBI Gene:28506, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106346892 106346911 105881034 105881053 +PA35112 28509 HGNC:5486 ENSG00000237197 immunoglobulin heavy diversity 1-7 IGHD1-7 DM1, IGHD17 Yes No Ensembl:ENSG00000237197, GenAtlas:IGHD1-7, GeneCard:IGHD1-7, HGNC:HGNC:5486, NCBI Gene:28509, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106375766 106375782 105909907 105909923 +PA35113 28335 HGNC:5487 ENSG00000271336 immunoglobulin heavy diversity 1/OR15-1A (non-functional) IGHD1OR15-1A IGHD1/OR15-1A, IGHD1OR151A Yes No Ensembl:ENSG00000271336, GenAtlas:IGHD1OR15-1A, GeneCard:IGHD1OR15-1A, HGNC:HGNC:5487, NCBI Gene:28335 No chr15 +PA35114 28334 HGNC:5488 ENSG00000270185 immunoglobulin heavy diversity 1/OR15-1B (non-functional) IGHD1OR15-1B IGHD1/OR15-1B, IGHD1OR151B Yes No Ensembl:ENSG00000270185, GenAtlas:IGHD1OR15-1B, GeneCard:IGHD1OR15-1B, HGNC:HGNC:5488, NCBI Gene:28334 No chr15 +PA35115 28503 HGNC:5489 ENSG00000211918 immunoglobulin heavy diversity 2-15 IGHD2-15 D2, IGHD215 Yes No Ensembl:ENSG00000211918, GenAtlas:IGHD2-15, GeneCard:IGHD2-15, HGNC:HGNC:5489, NCBI Gene:28503, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106363815 106363845 105897957 105897987 +PA35116 28505 HGNC:5490 ENSG00000211931 immunoglobulin heavy diversity 2-2 IGHD2-2 IGHD22 Yes No Ensembl:ENSG00000211931, GenAtlas:IGHD2-2, GeneCard:IGHD2-2, HGNC:HGNC:5490, NCBI Gene:28505, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106382685 106382715 105916826 105916856 +PA35117 28502 HGNC:5491 ENSG00000211912 immunoglobulin heavy diversity 2-21 IGHD2-21 IGHD221 Yes No Ensembl:ENSG00000211912, GenAtlas:IGHD2-21, GeneCard:IGHD2-21, HGNC:HGNC:5491, NCBI Gene:28502, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106354409 106354436 105888551 105888578 +PA35118 28504 HGNC:5492 ENSG00000211925 immunoglobulin heavy diversity 2-8 IGHD2-8 DLR1, IGHD28 Yes No Ensembl:ENSG00000211925, GenAtlas:IGHD2-8, GeneCard:IGHD2-8, HGNC:HGNC:5492, NCBI Gene:28504, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106373069 106373099 105907211 105907241 +PA35119 28333 HGNC:5493 ENSG00000282599 immunoglobulin heavy diversity 2/OR15-2A (non-functional) IGHD2OR15-2A IGHD2/OR15-2A, IGHD2OR152A Yes No Ensembl:ENSG00000282599, GenAtlas:IGHD2OR15-2A, GeneCard:IGHD2OR15-2A, HGNC:HGNC:5493, NCBI Gene:28333 No chr15 +PA35120 28332 HGNC:5494 ENSG00000282268 immunoglobulin heavy diversity 2/OR15-2B (non-functional) IGHD2OR15-2B IGHD2/OR15-2B, IGHD2OR152B Yes No Ensembl:ENSG00000282268, GenAtlas:IGHD2OR15-2B, GeneCard:IGHD2OR15-2B, HGNC:HGNC:5494, NCBI Gene:28332 No chr15 +PA35121 28499 HGNC:5495 ENSG00000211923 immunoglobulin heavy diversity 3-10 IGHD3-10 DXP'1, IGHD310 Yes No Ensembl:ENSG00000211923, GenAtlas:IGHD3-10, GeneCard:IGHD3-10, HGNC:HGNC:5495, NCBI Gene:28499, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106370355 106370385 105904497 105904527 +PA35122 28498 HGNC:5496 ENSG00000211917 immunoglobulin heavy diversity 3-16 IGHD3-16 IGHD316 Yes No Ensembl:ENSG00000211917, GenAtlas:IGHD3-16, GeneCard:IGHD3-16, HGNC:HGNC:5496, NCBI Gene:28498, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106361492 106361528 105895634 105895670 +PA35123 28497 HGNC:5497 ENSG00000211911 immunoglobulin heavy diversity 3-22 IGHD3-22 IGHD322 Yes No Ensembl:ENSG00000211911, GenAtlas:IGHD3-22, GeneCard:IGHD3-22, HGNC:HGNC:5497, NCBI Gene:28497, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106351889 106351919 105886031 105886061 +PA35124 28501 HGNC:5498 ENSG00000211930 immunoglobulin heavy diversity 3-3 IGHD3-3 DXP4, IGHD33 Yes No Ensembl:ENSG00000211930, GenAtlas:IGHD3-3, GeneCard:IGHD3-3, HGNC:HGNC:5498, NCBI Gene:28501, OMIM:611937, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106380218 106380248 105914359 105914389 +PA35125 28500 HGNC:5499 ENSG00000211924 immunoglobulin heavy diversity 3-9 IGHD3-9 DXP1, IGHD39 Yes No Ensembl:ENSG00000211924, GenAtlas:IGHD3-9, GeneCard:IGHD3-9, HGNC:HGNC:5499, NCBI Gene:28500, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106370539 106370569 105904681 105904711 +PA35126 28331 HGNC:5500 ENSG00000282520 immunoglobulin heavy diversity 3/OR15-3A (non-functional) IGHD3OR15-3A IGHD3/OR15-3A, IGHD3OR153A Yes No Ensembl:ENSG00000282520, GenAtlas:IGHD3OR15-3A, GeneCard:IGHD3OR15-3A, HGNC:HGNC:5500, NCBI Gene:28331 No chr15 +PA35127 28330 HGNC:5501 ENSG00000282089 immunoglobulin heavy diversity 3/OR15-3B (non-functional) IGHD3OR15-3B IGHD3/OR15-3B, IGHD3OR153B Yes No Ensembl:ENSG00000282089, GenAtlas:IGHD3OR15-3B, GeneCard:IGHD3OR15-3B, HGNC:HGNC:5501, NCBI Gene:28330 No chr15 +PA35128 28495 HGNC:5502 ENSG00000232543 immunoglobulin heavy diversity 4-11 (non-functional) IGHD4-11 DA1, IGHD411 Yes No Ensembl:ENSG00000232543, GenAtlas:IGHD4-11, GeneCard:IGHD4-11, HGNC:HGNC:5502, NCBI Gene:28495, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106369474 106369489 105903616 105903631 +PA35129 28494 HGNC:5503 ENSG00000227800 immunoglobulin heavy diversity 4-17 IGHD4-17 IGHD417 Yes No Ensembl:ENSG00000227800, GenAtlas:IGHD4-17, GeneCard:IGHD4-17, HGNC:HGNC:5503, NCBI Gene:28494, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106360366 106360381 105894508 105894523 +PA35130 28493 HGNC:5504 ENSG00000227196 immunoglobulin heavy diversity 4-23 (non-functional) IGHD4-23 IGHD423 Yes No Ensembl:ENSG00000227196, GenAtlas:IGHD4-23, GeneCard:IGHD4-23, HGNC:HGNC:5504, NCBI Gene:28493, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106350728 106350746 105884870 105884888 +PA35131 28496 HGNC:5505 ENSG00000233655 immunoglobulin heavy diversity 4-4 IGHD4-4 DA4, IGHD44 Yes No Ensembl:ENSG00000233655, GenAtlas:IGHD4-4, GeneCard:IGHD4-4, HGNC:HGNC:5505, NCBI Gene:28496, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106379081 106379096 105913222 105913237 +PA35132 28329 HGNC:5506 ENSG00000271317 immunoglobulin heavy diversity 4/OR15-4A (non-functional) IGHD4OR15-4A IGHD4/OR15-4A, IGHD4OR154A Yes No Ensembl:ENSG00000271317, GenAtlas:IGHD4OR15-4A, GeneCard:IGHD4OR15-4A, HGNC:HGNC:5506, NCBI Gene:28329 No chr15 +PA35133 28328 HGNC:5507 ENSG00000270451 immunoglobulin heavy diversity 4/OR15-4B (non-functional) IGHD4OR15-4B IGHD4/OR15-4B, IGHD4OR154B Yes No Ensembl:ENSG00000270451, GenAtlas:IGHD4OR15-4B, GeneCard:IGHD4OR15-4B, HGNC:HGNC:5507, NCBI Gene:28328 No chr15 +PA35134 28491 HGNC:5508 ENSG00000211921 immunoglobulin heavy diversity 5-12 IGHD5-12 DK1, IGHD512 Yes No Ensembl:ENSG00000211921, GenAtlas:IGHD5-12, GeneCard:IGHD5-12, HGNC:HGNC:5508, NCBI Gene:28491, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106368507 106368529 105902649 105902671 +PA35135 28490 HGNC:5509 ENSG00000211915 immunoglobulin heavy diversity 5-18 IGHD5-18 IGHD518 Yes No Ensembl:ENSG00000211915, GenAtlas:IGHD5-18, GeneCard:IGHD5-18, HGNC:HGNC:5509, NCBI Gene:28490, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106359400 106359419 105893542 105893561 +PA35136 28489 HGNC:5510 ENSG00000211909 immunoglobulin heavy diversity 5-24 (non-functional) IGHD5-24 IGHD524 Yes No Ensembl:ENSG00000211909, GenAtlas:IGHD5-24, GeneCard:IGHD5-24, HGNC:HGNC:5510, NCBI Gene:28489, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106349761 106349780 105883903 105883922 +PA35137 28492 HGNC:5511 ENSG00000211928 immunoglobulin heavy diversity 5-5 IGHD5-5 DK4, IGHD55 Yes No Ensembl:ENSG00000211928, GenAtlas:IGHD5-5, GeneCard:IGHD5-5, HGNC:HGNC:5511, NCBI Gene:28492, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106378116 106378135 105912257 105912276 +PA35138 28327 HGNC:5512 ENSG00000270961 immunoglobulin heavy diversity 5/OR15-5A (non-functional) IGHD5OR15-5A IGHD5/OR15-5A, IGHD5OR155A Yes No Ensembl:ENSG00000270961, GenAtlas:IGHD5OR15-5A, GeneCard:IGHD5OR15-5A, HGNC:HGNC:5512, NCBI Gene:28327 No chr15 +PA35139 28326 HGNC:5513 ENSG00000270824 immunoglobulin heavy diversity 5/OR15-5B (non-functional) IGHD5OR15-5B IGHD5/OR15-5B, IGHD5OR155B Yes No Ensembl:ENSG00000270824, GenAtlas:IGHD5OR15-5B, GeneCard:IGHD5OR15-5B, HGNC:HGNC:5513, NCBI Gene:28326 No chr15 +PA35140 28487 HGNC:5514 ENSG00000211920 immunoglobulin heavy diversity 6-13 IGHD6-13 DN1, IGHD613 Yes No Ensembl:ENSG00000211920, GenAtlas:IGHD6-13, GeneCard:IGHD6-13, HGNC:HGNC:5514, NCBI Gene:28487, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106367000 106367020 105901142 105901162 +PA35141 28486 HGNC:5515 ENSG00000211914 immunoglobulin heavy diversity 6-19 IGHD6-19 IGHD619 Yes No Ensembl:ENSG00000211914, GenAtlas:IGHD6-19, GeneCard:IGHD6-19, HGNC:HGNC:5515, NCBI Gene:28486, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106357557 106357577 105891699 105891719 +PA35142 28485 HGNC:5516 ENSG00000225825 immunoglobulin heavy diversity 6-25 IGHD6-25 IGHD625 Yes No Ensembl:ENSG00000225825, GenAtlas:IGHD6-25, GeneCard:IGHD6-25, HGNC:HGNC:5516, NCBI Gene:28485, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106347397 106347414 105881539 105881556 +PA35143 28488 HGNC:5517 ENSG00000228131 immunoglobulin heavy diversity 6-6 IGHD6-6 D(N4), IGHD66 Yes No Ensembl:ENSG00000228131, GenAtlas:IGHD6-6, GeneCard:IGHD6-6, HGNC:HGNC:5517, NCBI Gene:28488, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106376269 106376286 105910410 105910427 +PA35144 28484 HGNC:5518 ENSG00000236597 immunoglobulin heavy diversity 7-27 IGHD7-27 DHQ52, IGHD727 Yes No Ensembl:ENSG00000236597, GenAtlas:IGHD7-27, GeneCard:IGHD7-27, HGNC:HGNC:5518, NCBI Gene:28484, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106331761 106331771 105865551 105865561 +PA29713 3497 HGNC:5522 ENSG00000211891 immunoglobulin heavy constant epsilon IGHE Yes No Comparative Toxicogenomics Database:3497, Ensembl:ENSG00000211891, GenAtlas:IGHE, GeneCard:IGHE, HGNC:HGNC:5522, ModBase:P01854, NCBI Gene:3497, OMIM:147180, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106066403 106068064 105600066 105601727 +PA29714 3498 HGNC:5523 ENSG00000253692 immunoglobulin heavy constant epsilon P1 (pseudogene) IGHEP1 Yes No Ensembl:ENSG00000253692, GenAtlas:IGHEP1, GeneCard:IGHEP1, HGNC:HGNC:5523, NCBI Gene:3498, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106188131 106188864 105721794 105722527 +PA29715 3499 HGNC:5524 ENSG00000254017 immunoglobulin heavy constant epsilon P2 (pseudogene) IGHEP2 Yes No Ensembl:ENSG00000254017, GenAtlas:IGHEP2, GeneCard:IGHEP2, HGNC:HGNC:5524, NCBI Gene:3499, RefSeq DNA:NG_003254, RefSeq DNA:NT_008413 No chr9 5113452 5114909 5113452 5114909 +PA29716 3500 HGNC:5525 ENSG00000211896 immunoglobulin heavy constant gamma 1 (G1m marker) IGHG1 Yes No Ensembl:ENSG00000211896, GenAtlas:IGHG1, GeneCard:IGHG1, HGNC:HGNC:5525, ModBase:P01857, NCBI Gene:3500, OMIM:147100, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106207810 106209407 105741473 105743070 +PA29717 3501 HGNC:5526 ENSG00000211893 immunoglobulin heavy constant gamma 2 (G2m marker) IGHG2 Yes No Ensembl:ENSG00000211893, GenAtlas:IGHG2, GeneCard:IGHG2, HGNC:HGNC:5526, NCBI Gene:3501, OMIM:147110, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106109540 106111126 105643203 105644789 +PA29718 3502 HGNC:5527 ENSG00000211897 immunoglobulin heavy constant gamma 3 (G3m marker) IGHG3 Yes No Comparative Toxicogenomics Database:3502, Ensembl:ENSG00000211897, GenAtlas:IGHG3, GeneCard:IGHG3, HGNC:HGNC:5527, NCBI Gene:3502, OMIM:147120, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106232251 106237742 105765914 105771405 +PA29719 3503 HGNC:5528 ENSG00000211892 immunoglobulin heavy constant gamma 4 (G4m marker) IGHG4 Yes No Ensembl:ENSG00000211892, GenAtlas:IGHG4, GeneCard:IGHG4, HGNC:HGNC:5528, ModBase:P01861, NCBI Gene:3503, OMIM:147130, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106090813 106092402 105624476 105626065 +PA29720 3505 HGNC:5529 ENSG00000253755 immunoglobulin heavy constant gamma P (non-functional) IGHGP Yes No Ensembl:ENSG00000253755, GenAtlas:IGHGP, GeneCard:IGHGP, HGNC:HGNC:5529, NCBI Gene:3505, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106134586 106136377 105668249 105670040 +PA29721 28483 HGNC:5532 ENSG00000211905 immunoglobulin heavy joining 1 IGHJ1 Yes No Ensembl:ENSG00000211905, GenAtlas:IGHJ1, GeneCard:IGHJ1, HGNC:HGNC:5532, NCBI Gene:28483, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106331615 106331668 105865405 105865458 +PA29722 28482 HGNC:5533 ENSG00000227335 immunoglobulin heavy joining 1P (pseudogene) IGHJ1P Jpsi1 Yes No Ensembl:ENSG00000227335, GenAtlas:IGHJ1P, GeneCard:IGHJ1P, HGNC:HGNC:5533, NCBI Gene:28482, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106331834 106331887 105865624 105865677 +PA29723 28481 HGNC:5534 ENSG00000211904 immunoglobulin heavy joining 2 IGHJ2 Yes No Ensembl:ENSG00000211904, GenAtlas:IGHJ2, GeneCard:IGHJ2, HGNC:HGNC:5534, NCBI Gene:28481, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106331407 106331461 105865197 105865251 +PA29724 28480 HGNC:5535 ENSG00000237547 immunoglobulin heavy joining 2P (pseudogene) IGHJ2P Jpsi2 Yes No Ensembl:ENSG00000237547, GenAtlas:IGHJ2P, GeneCard:IGHJ2P, HGNC:HGNC:5535, NCBI Gene:28480, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106331003 106331062 105864793 105864852 +PA29725 28479 HGNC:5536 ENSG00000242887 immunoglobulin heavy joining 3 IGHJ3 Yes No Ensembl:ENSG00000242887, GenAtlas:IGHJ3, GeneCard:IGHJ3, HGNC:HGNC:5536, NCBI Gene:28479, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106330795 106330846 105864585 105864636 +PA29726 28478 HGNC:5537 ENSG00000237111 immunoglobulin heavy joining 3P (pseudogene) IGHJ3P Jpsi3 Yes No Ensembl:ENSG00000237111, GenAtlas:IGHJ3P, GeneCard:IGHJ3P, HGNC:HGNC:5537, NCBI Gene:28478, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106329625 106329675 105863415 105863465 +PA29727 28477 HGNC:5538 ENSG00000240041 immunoglobulin heavy joining 4 IGHJ4 Yes No Ensembl:ENSG00000240041, GenAtlas:IGHJ4, GeneCard:IGHJ4, HGNC:HGNC:5538, NCBI Gene:28477, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106330423 106330472 105864213 105864262 +PA29728 28476 HGNC:5539 ENSG00000242472 immunoglobulin heavy joining 5 IGHJ5 Yes No Ensembl:ENSG00000242472, GenAtlas:IGHJ5, GeneCard:IGHJ5, HGNC:HGNC:5539, NCBI Gene:28476, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106330022 106330074 105863812 105863864 +PA29729 28475 HGNC:5540 ENSG00000211900 immunoglobulin heavy joining 6 IGHJ6 Yes No Ensembl:ENSG00000211900, GenAtlas:IGHJ6, GeneCard:IGHJ6, HGNC:HGNC:5540, NCBI Gene:28475, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106329406 106329470 105863196 105863260 +PA29730 3507 HGNC:5541 ENSG00000211899 immunoglobulin heavy constant mu IGHM Yes No Comparative Toxicogenomics Database:3507, Ensembl:ENSG00000211899, GenAtlas:IGHM, GeneCard:IGHM, HGNC:HGNC:5541, NCBI Gene:3507, OMIM:147020, OMIM:601495, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106318298 106322322 105851966 105856217 +PA29731 3508 HGNC:5542 ENSG00000132740 immunoglobulin mu DNA binding protein 2 IGHMBP2 """cardiac transcription factor 1"", ""immunoglobulin mu binding protein 2"", ""zinc finger, AN1-type domain 7""" CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7 Yes Yes Comparative Toxicogenomics Database:3508, Ensembl:ENSG00000132740, GenAtlas:IGHMBP2, GeneCard:IGHMBP2, HGNC:HGNC:5542, HumanCyc Gene:HS05685, ModBase:P38935, NCBI Gene:3508, OMIM:600502, OMIM:604320, RefSeq DNA:NG_007976, RefSeq DNA:NT_167190, RefSeq Protein:NP_002171, RefSeq RNA:NM_002180, UCSC Genome Browser:NM_002180, UniProtKB:P38935 No chr11 68671319 68708070 68903851 68940602 +PA35148 28471 HGNC:5546 ENSG00000254174 immunoglobulin heavy variable 1-12 (pseudogene) IGHV1-12 Yes No Ensembl:ENSG00000254174, GenAtlas:IGHV1-12, GeneCard:IGHV1-12, HGNC:HGNC:5546, NCBI Gene:28471, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106579014 106579303 106122420 106122709 +PA35149 28470 HGNC:5547 ENSG00000253709 immunoglobulin heavy variable 1-14 (pseudogene) IGHV1-14 Yes No Ensembl:ENSG00000253709, GenAtlas:IGHV1-14, GeneCard:IGHV1-14, HGNC:HGNC:5547, NCBI Gene:28470, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106602571 106602820 106145882 106146131 +PA35150 28469 HGNC:5548 ENSG00000254046 immunoglobulin heavy variable 1-17 (pseudogene) IGHV1-17 Yes No Ensembl:ENSG00000254046, GenAtlas:IGHV1-17, GeneCard:IGHV1-17, HGNC:HGNC:5548, NCBI Gene:28469, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106631031 106631467 106174342 106174778 +PA35151 28468 HGNC:5549 ENSG00000211945 immunoglobulin heavy variable 1-18 IGHV1-18 Yes No Ensembl:ENSG00000211945, GenAtlas:IGHV1-18, GeneCard:IGHV1-18, HGNC:HGNC:5549, NCBI Gene:28468, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106641561 106641997 106184899 106185335 +PA35152 28474 HGNC:5550 ENSG00000211934 immunoglobulin heavy variable 1-2 IGHV1-2 V35 Yes No Ensembl:ENSG00000211934, GenAtlas:IGHV1-2, GeneCard:IGHV1-2, HGNC:HGNC:5550, NCBI Gene:28474, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106452669 106453106 105986582 105987019 +PA35153 28467 HGNC:5551 ENSG00000211950 immunoglobulin heavy variable 1-24 IGHV1-24 Yes No Ensembl:ENSG00000211950, GenAtlas:IGHV1-24, GeneCard:IGHV1-24, HGNC:HGNC:5551, NCBI Gene:28467, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106733142 106733579 106276546 106276983 +PA35154 28473 HGNC:5552 ENSG00000211935 immunoglobulin heavy variable 1-3 IGHV1-3 VI-3B Yes No Ensembl:ENSG00000211935, GenAtlas:IGHV1-3, GeneCard:IGHV1-3, HGNC:HGNC:5552, NCBI Gene:28473, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106471244 106471681 106005095 106005532 +PA35155 28466 HGNC:5553 ENSG00000211961 immunoglobulin heavy variable 1-45 IGHV1-45 Yes No Ensembl:ENSG00000211961, GenAtlas:IGHV1-45, GeneCard:IGHV1-45, HGNC:HGNC:5553, NCBI Gene:28466, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106962929 106963366 106506996 106507433 +PA35156 28465 HGNC:5554 ENSG00000211962 immunoglobulin heavy variable 1-46 IGHV1-46 Yes No Ensembl:ENSG00000211962, GenAtlas:IGHV1-46, GeneCard:IGHV1-46, HGNC:HGNC:5554, NCBI Gene:28465, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106967047 106967484 106511115 106511552 +PA35157 28464 HGNC:5555 ENSG00000211968 immunoglobulin heavy variable 1-58 IGHV1-58 Yes No Ensembl:ENSG00000211968, GenAtlas:IGHV1-58, GeneCard:IGHV1-58, HGNC:HGNC:5555, NCBI Gene:28464, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107078371 107078808 106622357 106622794 +PA35158 28463 HGNC:5556 ENSG00000253274 immunoglobulin heavy variable 1-67 (pseudogene) IGHV1-67 Yes No Ensembl:ENSG00000253274, GenAtlas:IGHV1-67, GeneCard:IGHV1-67, HGNC:HGNC:5556, NCBI Gene:28463, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107136620 107137059 106680603 106681042 +PA35159 28462 HGNC:5557 ENSG00000253703 immunoglobulin heavy variable 1-68 (pseudogene) IGHV1-68 Yes No Ensembl:ENSG00000253703, GenAtlas:IGHV1-68, GeneCard:IGHV1-68, HGNC:HGNC:5557, NCBI Gene:28462, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107159824 107160303 106703807 106704286 +PA35160 28461 HGNC:5558 ENSG00000211973 immunoglobulin heavy variable 1-69 IGHV1-69 Yes No Ensembl:ENSG00000211973, GenAtlas:IGHV1-69, GeneCard:IGHV1-69, HGNC:HGNC:5558, NCBI Gene:28461, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107169929 107170367 106714682 106715120 +PA35161 28472 HGNC:5559 immunoglobulin heavy variable 1-8 IGHV1-8 Yes No GenAtlas:IGHV1-8, GeneCard:IGHV1-8, HGNC:HGNC:5559, NCBI Gene:28472, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106539077 106539515 +PA35164 388077 HGNC:5563 ENSG00000270505 immunoglobulin heavy variable 1/OR15-1 (non-functional) IGHV1OR15-1 IGHV1/OR15-1 Yes No Ensembl:ENSG00000270505, GenAtlas:IGHV1OR15-1, GeneCard:IGHV1OR15-1, HGNC:HGNC:5563, NCBI Gene:388077, RefSeq DNA:NT_077631 No chr15 22448226 22448876 22160289 22160930 +PA35166 646370 HGNC:5565 ENSG00000271288 immunoglobulin heavy variable 1/OR15-3 (pseudogene) IGHV1OR15-3 IGHV1/OR15-3 Yes No Ensembl:ENSG00000271288, GenAtlas:IGHV1OR15-3, GeneCard:IGHV1OR15-3, HGNC:HGNC:5565, NCBI Gene:646370, RefSeq DNA:NT_077631 No chr15 22465977 22466509 21735258 21735999 +PA35167 646379 HGNC:5566 ENSG00000270356 immunoglobulin heavy variable 1/OR15-4 (pseudogene) IGHV1OR15-4 IGHV1/OR15-4 Yes No Ensembl:ENSG00000270356, GenAtlas:IGHV1OR15-4, GeneCard:IGHV1OR15-4, HGNC:HGNC:5566, NCBI Gene:646379, RefSeq DNA:NT_077631 No chr15 +PA35168 100384884 HGNC:5567 immunoglobulin heavy variable 1/OR15-5 (non-functional) IGHV1OR15-5 IGHV1/OR15-5 Yes No GenAtlas:IGHV1OR15-5, GeneCard:IGHV1OR15-5, HGNC:HGNC:5567, NCBI Gene:100384884 No chr15 +PA35169 28320 HGNC:5568 ENSG00000270685 immunoglobulin heavy variable 1/OR15-6 (pseudogene) IGHV1OR15-6 IGHV1/OR15-6 Yes No Ensembl:ENSG00000270685, GenAtlas:IGHV1OR15-6, GeneCard:IGHV1OR15-6, HGNC:HGNC:5568, NCBI Gene:28320 No chr15 +PA35170 390531 HGNC:5569 ENSG00000188403 immunoglobulin heavy variable 1/OR15-9 (non-functional) IGHV1OR15-9 IGHV1/OR15-9, IGHV1OR159 Yes No Ensembl:ENSG00000188403, GenAtlas:IGHV1OR15-9, GeneCard:IGHV1OR15-9, GeneCard:VSIG7, HGNC:HGNC:5569, NCBI Gene:390531, RefSeq DNA:NT_037852, RefSeq Protein:XP_003403590, RefSeq Protein:XP_496025, RefSeq RNA:XM_003403542, RefSeq RNA:XM_496025 No chr15 20169909 20170354 19964656 19965101 +PA35171 28315 HGNC:5570 ENSG00000261704 immunoglobulin heavy variable 1/OR16-1 (pseudogene) IGHV1OR16-1 IGHV1/OR16-1 Yes No Ensembl:ENSG00000261704, GenAtlas:IGHV1OR16-1, GeneCard:IGHV1OR16-1, HGNC:HGNC:5570, NCBI Gene:28315 No chr16 32046391 32046647 32035070 32035326 +PA35172 28314 HGNC:5571 ENSG00000259852 immunoglobulin heavy variable 1/OR16-2 (pseudogene) IGHV1OR16-2 IGHV1/OR16-2 Yes No Ensembl:ENSG00000259852, GenAtlas:IGHV1OR16-2, GeneCard:IGHV1OR16-2, HGNC:HGNC:5571, NCBI Gene:28314 No chr16 +PA35173 28313 HGNC:5572 ENSG00000260048 immunoglobulin heavy variable 1/OR16-3 (pseudogene) IGHV1OR16-3 IGHV1/OR16-3 Yes No Ensembl:ENSG00000260048, GenAtlas:IGHV1OR16-3, GeneCard:IGHV1OR16-3, HGNC:HGNC:5572, NCBI Gene:28313 No chr16 +PA35174 28312 HGNC:5573 ENSG00000259997 immunoglobulin heavy variable 1/OR16-4 (pseudogene) IGHV1OR16-4 IGHV1/OR16-4 Yes No Ensembl:ENSG00000259997, GenAtlas:IGHV1OR16-4, GeneCard:IGHV1OR16-4, HGNC:HGNC:5573, NCBI Gene:28312 No chr16 +PA35175 28456 HGNC:5574 immunoglobulin heavy variable 2-10 (pseudogene) IGHV2-10 Yes No GenAtlas:IGHV2-10, GeneCard:IGHV2-10, HGNC:HGNC:5574, NCBI Gene:28456, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106559540 106559980 +PA35176 28455 HGNC:5575 ENSG00000211951 immunoglobulin heavy variable 2-26 IGHV2-26 Yes No Ensembl:ENSG00000211951, GenAtlas:IGHV2-26, GeneCard:IGHV2-26, HGNC:HGNC:5575, NCBI Gene:28455, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106757649 106758092 106301395 106301838 +PA35177 28457 HGNC:5576 ENSG00000211937 immunoglobulin heavy variable 2-5 IGHV2-5 Yes No Ensembl:ENSG00000211937, GenAtlas:IGHV2-5, GeneCard:IGHV2-5, HGNC:HGNC:5576, NCBI Gene:28457, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106494134 106494577 106037902 106038345 +PA35178 28454 HGNC:5577 ENSG00000274576 immunoglobulin heavy variable 2-70 IGHV2-70 Yes No Ensembl:ENSG00000274576, GenAtlas:IGHV2-70, GeneCard:IGHV2-70, HGNC:HGNC:5577, NCBI Gene:28454, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107178819 107179262 106770577 106771020 +PA35179 100129631 HGNC:5579 ENSG00000259303 immunoglobulin heavy variable 2/OR16-5 (non-functional) IGHV2OR16-5 IGHV2/OR16-5 Yes No Ensembl:ENSG00000259303, GenAtlas:IGHV2OR16-5, GeneCard:IGHV2OR16-5, HGNC:HGNC:5579, NCBI Gene:100129631, RefSeq DNA:NT_010393 No chr16 +PA35180 28450 HGNC:5580 ENSG00000211941 immunoglobulin heavy variable 3-11 (gene/pseudogene) IGHV3-11 Yes No Ensembl:ENSG00000211941, GenAtlas:IGHV3-11, GeneCard:IGHV3-11, HGNC:HGNC:5580, NCBI Gene:28450, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106573231 106573680 106116635 106117084 +PA35181 28449 HGNC:5581 ENSG00000211942 immunoglobulin heavy variable 3-13 IGHV3-13 Yes No Ensembl:ENSG00000211942, GenAtlas:IGHV3-13, GeneCard:IGHV3-13, HGNC:HGNC:5581, NCBI Gene:28449, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106586135 106586587 106129540 106129992 +PA35182 28448 HGNC:5582 ENSG00000211943 immunoglobulin heavy variable 3-15 IGHV3-15 Yes No Ensembl:ENSG00000211943, GenAtlas:IGHV3-15, GeneCard:IGHV3-15, HGNC:HGNC:5582, NCBI Gene:28448, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106610311 106610772 106153622 106154083 +PA35183 28447 HGNC:5583 ENSG00000211944 immunoglobulin heavy variable 3-16 (non-functional) IGHV3-16 Yes No Ensembl:ENSG00000211944, GenAtlas:IGHV3-16, GeneCard:IGHV3-16, HGNC:HGNC:5583, NCBI Gene:28447, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106621892 106622345 106165203 106165656 +PA35184 28446 HGNC:5584 ENSG00000253883 immunoglobulin heavy variable 3-19 (pseudogene) IGHV3-19 Yes No Ensembl:ENSG00000253883, GenAtlas:IGHV3-19, GeneCard:IGHV3-19, HGNC:HGNC:5584, NCBI Gene:28446, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106653369 106653661 106196698 106196990 +PA35185 28445 HGNC:5585 ENSG00000211946 immunoglobulin heavy variable 3-20 IGHV3-20 Yes No Ensembl:ENSG00000211946, GenAtlas:IGHV3-20, GeneCard:IGHV3-20, HGNC:HGNC:5585, NCBI Gene:28445, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106667579 106668033 106210936 106211391 +PA35186 28444 HGNC:5586 ENSG00000211947 immunoglobulin heavy variable 3-21 IGHV3-21 Yes No Ensembl:ENSG00000211947, GenAtlas:IGHV3-21, GeneCard:IGHV3-21, HGNC:HGNC:5586, NCBI Gene:28444, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106691671 106692124 106235062 106235515 +PA35187 28443 HGNC:5587 ENSG00000253957 immunoglobulin heavy variable 3-22 (pseudogene) IGHV3-22 Yes No Ensembl:ENSG00000253957, GenAtlas:IGHV3-22, GeneCard:IGHV3-22, HGNC:HGNC:5587, NCBI Gene:28443, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106714360 106714821 106257762 106258223 +PA35188 28442 HGNC:5588 ENSG00000211949 immunoglobulin heavy variable 3-23 IGHV3-23 Yes No Ensembl:ENSG00000211949, GenAtlas:IGHV3-23, GeneCard:IGHV3-23, HGNC:HGNC:5588, NCBI Gene:28442, OMIM:611939, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106725199 106725654 106268606 106269061 +PA35189 28441 HGNC:5589 ENSG00000253441 immunoglobulin heavy variable 3-25 (pseudogene) IGHV3-25 Yes No Ensembl:ENSG00000253441, GenAtlas:IGHV3-25, GeneCard:IGHV3-25, HGNC:HGNC:5589, NCBI Gene:28441, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106745620 106746073 106289026 106289479 +PA35190 28440 HGNC:5590 ENSG00000270474 immunoglobulin heavy variable 3-29 (pseudogene) IGHV3-29 Yes No Ensembl:ENSG00000270474, GenAtlas:IGHV3-29, GeneCard:IGHV3-29, HGNC:HGNC:5590, NCBI Gene:28440, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106787358 106787815 106331106 106331563 +PA35191 28439 HGNC:5591 ENSG00000270550 immunoglobulin heavy variable 3-30 IGHV3-30 Yes No Ensembl:ENSG00000270550, GenAtlas:IGHV3-30, GeneCard:IGHV3-30, HGNC:HGNC:5591, NCBI Gene:28439, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106791003 106791456 106335080 106335533 +PA35192 28438 HGNC:5592 ENSG00000253587 immunoglobulin heavy variable 3-30-2 (pseudogene) IGHV3-30-2 Yes No Ensembl:ENSG00000253587, GenAtlas:IGHV3-30-2, GeneCard:IGHV3-30-2, HGNC:HGNC:5592, NCBI Gene:28438, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106800309 106800757 106344385 106344833 +PA134904454 57290 HGNC:5593 immunoglobulin heavy variable 3-30-3 IGHV3-30-3 Yes No GeneCard:IGHV3-30-3, HGNC:HGNC:5593, NCBI Gene:57290 No chr14 +PA35193 89770 HGNC:5594 immunoglobulin heavy variable 3-30-5 IGHV3-30-5 Yes No GenAtlas:IGHV3-30-5, GeneCard:IGHV3-30-5, HGNC:HGNC:5594, NCBI Gene:89770 No chr14 +PA35194 28435 HGNC:5595 ENSG00000254289 immunoglobulin heavy variable 3-32 (pseudogene) IGHV3-32 Yes No Ensembl:ENSG00000254289, GenAtlas:IGHV3-32, GeneCard:IGHV3-32, HGNC:HGNC:5595, NCBI Gene:28435, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106812071 106812528 106356145 106356602 +PA35195 28434 HGNC:5596 ENSG00000211955 immunoglobulin heavy variable 3-33 IGHV3-33 Yes No Ensembl:ENSG00000211955, GenAtlas:IGHV3-33, GeneCard:IGHV3-33, HGNC:HGNC:5596, NCBI Gene:28434, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106815720 106816173 106359791 106360244 +PA35196 28433 HGNC:5597 ENSG00000253440 immunoglobulin heavy variable 3-33-2 (pseudogene) IGHV3-33-2 Yes No Ensembl:ENSG00000253440, GenAtlas:IGHV3-33-2, GeneCard:IGHV3-33-2, HGNC:HGNC:5597, NCBI Gene:28433, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106825029 106825477 106369098 106369546 +PA35197 28432 HGNC:5598 ENSG00000211957 immunoglobulin heavy variable 3-35 (non-functional) IGHV3-35 Yes No Ensembl:ENSG00000211957, GenAtlas:IGHV3-35, GeneCard:IGHV3-35, HGNC:HGNC:5598, NCBI Gene:28432, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106845321 106845774 106389390 106389843 +PA35198 28431 HGNC:5599 ENSG00000253240 immunoglobulin heavy variable 3-36 (pseudogene) IGHV3-36 Yes No Ensembl:ENSG00000253240, GenAtlas:IGHV3-36, GeneCard:IGHV3-36, HGNC:HGNC:5599, NCBI Gene:28431, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106848680 106849142 106392769 106393231 +PA35199 28430 HGNC:5600 ENSG00000253359 immunoglobulin heavy variable 3-37 (pseudogene) IGHV3-37 Yes No Ensembl:ENSG00000253359, GenAtlas:IGHV3-37, GeneCard:IGHV3-37, HGNC:HGNC:5600, NCBI Gene:28430, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106852577 106853026 106396665 106397114 +PA35200 28429 HGNC:5601 ENSG00000211958 immunoglobulin heavy variable 3-38 (non-functional) IGHV3-38 Yes No Ensembl:ENSG00000211958, GenAtlas:IGHV3-38, GeneCard:IGHV3-38, HGNC:HGNC:5601, NCBI Gene:28429, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106866407 106866856 106410494 106410943 +PA35201 28428 HGNC:5602 ENSG00000278473 immunoglobulin heavy variable 3-41 (pseudogene) IGHV3-41 Yes No Ensembl:ENSG00000278473, GenAtlas:IGHV3-41, GeneCard:IGHV3-41, HGNC:HGNC:5602, NCBI Gene:28428, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106899040 106899494 106443129 106443584 +PA35202 28427 HGNC:5603 ENSG00000254228 immunoglobulin heavy variable 3-42 (pseudogene) IGHV3-42 Yes No Ensembl:ENSG00000254228, GenAtlas:IGHV3-42, GeneCard:IGHV3-42, HGNC:HGNC:5603, NCBI Gene:28427, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106919179 106919613 106463254 106463688 +PA35203 28426 HGNC:5604 ENSG00000232216 immunoglobulin heavy variable 3-43 IGHV3-43 Yes No Ensembl:ENSG00000232216, GenAtlas:IGHV3-43, GeneCard:IGHV3-43, HGNC:HGNC:5604, NCBI Gene:28426, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106926187 106926644 106470263 106470720 +PA35204 28425 HGNC:5605 ENSG00000229092 immunoglobulin heavy variable 3-47 (pseudogene) IGHV3-47 Yes No Ensembl:ENSG00000229092, GenAtlas:IGHV3-47, GeneCard:IGHV3-47, HGNC:HGNC:5605, NCBI Gene:28425, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106974506 106974961 106518579 106519034 +PA35205 28424 HGNC:5606 ENSG00000211964 immunoglobulin heavy variable 3-48 IGHV3-48 Yes No Ensembl:ENSG00000211964, GenAtlas:IGHV3-48, GeneCard:IGHV3-48, HGNC:HGNC:5606, NCBI Gene:28424, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106993812 106994267 106537810 106538265 +PA35206 28423 HGNC:5607 ENSG00000211965 immunoglobulin heavy variable 3-49 IGHV3-49 Yes No Ensembl:ENSG00000211965, GenAtlas:IGHV3-49, GeneCard:IGHV3-49, HGNC:HGNC:5607, NCBI Gene:28423, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107012936 107013397 106556936 106557397 +PA35207 28422 HGNC:5608 ENSG00000253241 immunoglobulin heavy variable 3-50 (pseudogene) IGHV3-50 Yes No Ensembl:ENSG00000253241, GenAtlas:IGHV3-50, GeneCard:IGHV3-50, HGNC:HGNC:5608, NCBI Gene:28422, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107022088 107022543 106566100 106566555 +PA35208 28421 HGNC:5609 ENSG00000253545 immunoglobulin heavy variable 3-52 (pseudogene) IGHV3-52 Yes No Ensembl:ENSG00000253545, GenAtlas:IGHV3-52, GeneCard:IGHV3-52, HGNC:HGNC:5609, NCBI Gene:28421, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107042360 107042810 106586376 106586826 +PA35209 28420 HGNC:5610 ENSG00000211967 immunoglobulin heavy variable 3-53 IGHV3-53 Yes No Ensembl:ENSG00000211967, GenAtlas:IGHV3-53, GeneCard:IGHV3-53, HGNC:HGNC:5610, NCBI Gene:28420, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107048670 107049120 106592676 106593126 +PA35210 28419 HGNC:5611 ENSG00000275475 immunoglobulin heavy variable 3-54 (pseudogene) IGHV3-54 Yes No Ensembl:ENSG00000275475, GenAtlas:IGHV3-54, GeneCard:IGHV3-54, HGNC:HGNC:5611, NCBI Gene:28419, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107057348 107057795 106601336 106601792 +PA35211 28418 HGNC:5612 ENSG00000253759 immunoglobulin heavy variable 3-57 (pseudogene) IGHV3-57 Yes No Ensembl:ENSG00000253759, GenAtlas:IGHV3-57, GeneCard:IGHV3-57, HGNC:HGNC:5612, NCBI Gene:28418, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107074922 107075227 106618909 106619214 +PA35212 28453 HGNC:5613 ENSG00000253763 immunoglobulin heavy variable 3-6 (pseudogene) IGHV3-6 Yes No Ensembl:ENSG00000253763, GenAtlas:IGHV3-6, GeneCard:IGHV3-6, HGNC:HGNC:5613, NCBI Gene:28453, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106511777 106512231 106055544 106055998 +PA35213 28417 HGNC:5614 ENSG00000253742 immunoglobulin heavy variable 3-60 (pseudogene) IGHV3-60 Yes No Ensembl:ENSG00000253742, GenAtlas:IGHV3-60, GeneCard:IGHV3-60, HGNC:HGNC:5614, NCBI Gene:28417, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107087202 107087658 106631197 106631653 +PA35214 28416 HGNC:5615 ENSG00000253132 immunoglobulin heavy variable 3-62 (pseudogene) IGHV3-62 Yes No Ensembl:ENSG00000253132, GenAtlas:IGHV3-62, GeneCard:IGHV3-62, HGNC:HGNC:5615, NCBI Gene:28416, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107099133 107099588 106643130 106643585 +PA35215 28415 HGNC:5616 ENSG00000253936 immunoglobulin heavy variable 3-63 (pseudogene) IGHV3-63 Yes No Ensembl:ENSG00000253936, GenAtlas:IGHV3-63, GeneCard:IGHV3-63, HGNC:HGNC:5616, NCBI Gene:28415, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107108228 107108695 106652213 106652680 +PA35216 28414 HGNC:5617 ENSG00000223648 immunoglobulin heavy variable 3-64 IGHV3-64 Yes No Ensembl:ENSG00000223648, GenAtlas:IGHV3-64, GeneCard:IGHV3-64, HGNC:HGNC:5617, NCBI Gene:28414, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107113739 107114194 106657723 106658178 +PA35217 28413 HGNC:5618 ENSG00000253209 immunoglobulin heavy variable 3-65 (pseudogene) IGHV3-65 Yes No Ensembl:ENSG00000253209, GenAtlas:IGHV3-65, GeneCard:IGHV3-65, HGNC:HGNC:5618, NCBI Gene:28413, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107122054 107122548 106666038 106666532 +PA35218 28412 HGNC:5619 ENSG00000211972 immunoglobulin heavy variable 3-66 IGHV3-66 Yes No Ensembl:ENSG00000211972, GenAtlas:IGHV3-66, GeneCard:IGHV3-66, HGNC:HGNC:5619, NCBI Gene:28412, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107131031 107131481 106675015 106675465 +PA35219 28452 HGNC:5620 ENSG00000211938 immunoglobulin heavy variable 3-7 IGHV3-7 Yes No Ensembl:ENSG00000211938, GenAtlas:IGHV3-7, GeneCard:IGHV3-7, HGNC:HGNC:5620, NCBI Gene:28452, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106518398 106518853 106062149 106062604 +PA35220 28411 HGNC:5621 ENSG00000254056 immunoglobulin heavy variable 3-71 (pseudogene) IGHV3-71 IGHV3-g Yes No Ensembl:ENSG00000254056, GenAtlas:IGHV3-71, GeneCard:IGHV3-71, HGNC:HGNC:5621, NCBI Gene:28411, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107183396 107183857 106775157 106775618 +PA35221 28410 HGNC:5622 ENSG00000225698 immunoglobulin heavy variable 3-72 IGHV3-72 Yes No Ensembl:ENSG00000225698, GenAtlas:IGHV3-72, GeneCard:IGHV3-72, HGNC:HGNC:5622, NCBI Gene:28410, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107198930 107199391 106790692 106791153 +PA35222 28409 HGNC:5623 ENSG00000211976 immunoglobulin heavy variable 3-73 IGHV3-73 Yes No Ensembl:ENSG00000211976, GenAtlas:IGHV3-73, GeneCard:IGHV3-73, HGNC:HGNC:5623, NCBI Gene:28409, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107210930 107211391 106802692 106803153 +PA35223 28408 HGNC:5624 ENSG00000224650 immunoglobulin heavy variable 3-74 IGHV3-74 Yes No Ensembl:ENSG00000224650, GenAtlas:IGHV3-74, GeneCard:IGHV3-74, HGNC:HGNC:5624, NCBI Gene:28408, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107218674 107219129 106810440 106810895 +PA35224 28407 HGNC:5625 ENSG00000254176 immunoglobulin heavy variable 3-75 (pseudogene) IGHV3-75 Yes No Ensembl:ENSG00000254176, GenAtlas:IGHV3-75, GeneCard:IGHV3-75, HGNC:HGNC:5625, NCBI Gene:28407, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107231908 107232377 106823678 106824147 +PA35225 28406 HGNC:5626 ENSG00000253247 immunoglobulin heavy variable 3-76 (pseudogene) IGHV3-76 Yes No Ensembl:ENSG00000253247, GenAtlas:IGHV3-76, GeneCard:IGHV3-76, HGNC:HGNC:5626, NCBI Gene:28406, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107236089 107236538 106827861 106828310 +PA35226 28405 HGNC:5627 ENSG00000275747 immunoglobulin heavy variable 3-79 (pseudogene) IGHV3-79 Yes No Ensembl:ENSG00000275747, GenAtlas:IGHV3-79, GeneCard:IGHV3-79, HGNC:HGNC:5627, NCBI Gene:28405, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107275853 107276304 106867640 106868092 +PA35227 28451 HGNC:5628 immunoglobulin heavy variable 3-9 IGHV3-9 Yes No GenAtlas:IGHV3-9, GeneCard:IGHV3-9, HGNC:HGNC:5628, NCBI Gene:28451, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106552284 106552729 25991 26561 +PA35230 28318 HGNC:5633 ENSG00000259490 immunoglobulin heavy variable 3/OR15-7 (pseudogene) IGHV3OR15-7 IGHV3/OR15-7 Yes No Ensembl:ENSG00000259490, GenAtlas:IGHV3OR15-7, GeneCard:IGHV3OR15-7, HGNC:HGNC:5633, NCBI Gene:28318 No chr15 20192722 20193418 +PA35231 28306 HGNC:5634 ENSG00000233732 immunoglobulin heavy variable 3/OR16-10 (non-functional) IGHV3OR16-10 IGHV3/OR16-10 Yes No Ensembl:ENSG00000233732, GenAtlas:IGHV3OR16-10, GeneCard:IGHV3OR16-10, HGNC:HGNC:5634, NCBI Gene:28306 No chr16 33006369 33006920 +PA35232 28305 HGNC:5635 ENSG00000270318 immunoglobulin heavy variable 3/OR16-11 (pseudogene) IGHV3OR16-11 IGHV3/OR16-11 Yes No Ensembl:ENSG00000270318, GenAtlas:IGHV3OR16-11, GeneCard:IGHV3OR16-11, HGNC:HGNC:5635, NCBI Gene:28305 No chr16 33661269 33661819 +PA35233 28304 HGNC:5636 ENSG00000270467 immunoglobulin heavy variable 3/OR16-12 (non-functional) IGHV3OR16-12 IGHV3/OR16-12 Yes No Ensembl:ENSG00000270467, GenAtlas:IGHV3OR16-12, GeneCard:IGHV3OR16-12, HGNC:HGNC:5636, NCBI Gene:28304 No chr16 +PA35235 100287372 HGNC:5638 immunoglobulin heavy variable 3/OR16-14 (pseudogene) IGHV3OR16-14 IGHV3/OR16-14 Yes No GenAtlas:IGHV3OR16-13, GenAtlas:IGHV3OR16-14, GeneCard:IGHV3OR16-13, GeneCard:IGHV3OR16-14, HGNC:HGNC:5638, NCBI Gene:100287372, RefSeq DNA:NG_011771, RefSeq DNA:NT_010393, RefSeq Protein:XP_002343513, RefSeq Protein:XP_002348171, RefSeq RNA:XM_002343472, RefSeq RNA:XM_002348130 No chr16 33629833 33630126 33827366 33827659 +PA35236 28300 HGNC:5639 ENSG00000261834 immunoglobulin heavy variable 3/OR16-15 (pseudogene) IGHV3OR16-15 IGHV3/OR16-15 Yes No Ensembl:ENSG00000261834, GenAtlas:IGHV3OR16-15, GeneCard:IGHV3OR16-15, HGNC:HGNC:5639, NCBI Gene:28300 No chr16 +PA35237 28301 HGNC:5640 ENSG00000259842 immunoglobulin heavy variable 3/OR16-16 (pseudogene) IGHV3OR16-16 IGHV3/OR16-16 Yes No Ensembl:ENSG00000259842, GenAtlas:IGHV3OR16-16, GeneCard:IGHV3OR16-16, HGNC:HGNC:5640, NCBI Gene:28301 No chr16 +PA35238 647187 HGNC:5641 ENSG00000270864 immunoglobulin heavy variable 3/OR16-6 (pseudogene) IGHV3OR16-6 IGHV3/OR16-6 Yes No Ensembl:ENSG00000270864, GenAtlas:IGHV3OR16-6, GeneCard:IGHV3OR16-6, HGNC:HGNC:5641, NCBI Gene:647187, RefSeq DNA:NT_010393 No chr16 32913355 32958154 32919605 32948530 +PA35239 28309 HGNC:5642 ENSG00000271620 immunoglobulin heavy variable 3/OR16-7 (pseudogene) IGHV3OR16-7 IGHV3/OR16-7 Yes No Ensembl:ENSG00000271620, GenAtlas:IGHV3OR16-7, GeneCard:IGHV3OR16-7, HGNC:HGNC:5642, NCBI Gene:28309 No chr16 +PA35240 388255 HGNC:5643 ENSG00000271130 immunoglobulin heavy variable 3/OR16-8 (non-functional) IGHV3OR16-8 IGHV3/OR16-8 Yes No Ensembl:ENSG00000271130, GenAtlas:IGHV3OR16-8, GeneCard:IGHV3OR16-8, HGNC:HGNC:5643, NCBI Gene:388255, RefSeq DNA:NT_010393 No chr16 33020462 33020967 33009126 33009646 +PA35241 28307 HGNC:5644 ENSG00000270472 immunoglobulin heavy variable 3/OR16-9 (non-functional) IGHV3OR16-9 IGHV3/OR16-9 Yes No Ensembl:ENSG00000270472, GenAtlas:IGHV3OR16-9, GeneCard:IGHV3OR16-9, HGNC:HGNC:5644, NCBI Gene:28307 No chr16 +PA35242 28400 HGNC:5645 ENSG00000211952 immunoglobulin heavy variable 4-28 IGHV4-28 Yes No Ensembl:ENSG00000211952, GenAtlas:IGHV4-28, GeneCard:IGHV4-28, HGNC:HGNC:5645, NCBI Gene:28400, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106780511 106780945 106324254 106324688 +PA35243 28399 HGNC:5646 immunoglobulin heavy variable 4-30-1 IGHV4-30-1 Yes No GenAtlas:IGHV4-30-1, GeneCard:IGHV4-30-1, HGNC:HGNC:5646, NCBI Gene:28399 No chr14 +PA35244 28398 HGNC:5647 immunoglobulin heavy variable 4-30-2 IGHV4-30-2 IGHV4-3, IGHV4302 Yes No GenAtlas:IGHV4-30-2, GeneCard:IGHV4-30-2, HGNC:HGNC:5647, NCBI Gene:28398 No chr14 +PA35245 28397 HGNC:5648 immunoglobulin heavy variable 4-30-4 IGHV4-30-4 IGHV4-3, IGHV4304 Yes No GenAtlas:IGHV4-30-4, GeneCard:IGHV4-30-4, HGNC:HGNC:5648, NCBI Gene:28397 No chr14 +PA35246 28396 HGNC:5649 ENSG00000231475 immunoglobulin heavy variable 4-31 IGHV4-31 Yes No Ensembl:ENSG00000231475, GenAtlas:IGHV4-31, GeneCard:IGHV4-31, HGNC:HGNC:5649, NCBI Gene:28396, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106805207 106805644 +PA35247 28395 HGNC:5650 ENSG00000211956 immunoglobulin heavy variable 4-34 IGHV4-34 Yes No Ensembl:ENSG00000211956, GenAtlas:IGHV4-34, GeneCard:IGHV4-34, HGNC:HGNC:5650, NCBI Gene:28395, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106829592 106830024 106373661 106374093 +PA35248 28394 HGNC:5651 ENSG00000211959 immunoglobulin heavy variable 4-39 IGHV4-39 Yes No Ensembl:ENSG00000211959, GenAtlas:IGHV4-39, GeneCard:IGHV4-39, HGNC:HGNC:5651, NCBI Gene:28394, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106877617 106878055 106421709 106422147 +PA35249 28401 HGNC:5652 ENSG00000276775 immunoglobulin heavy variable 4-4 IGHV4-4 Yes No Ensembl:ENSG00000276775, GenAtlas:IGHV4-4, GeneCard:IGHV4-4, HGNC:HGNC:5652, NCBI Gene:28401, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106478108 106478539 106011922 106012356 +PA35250 28393 HGNC:5653 ENSG00000254395 immunoglobulin heavy variable 4-55 (pseudogene) IGHV4-55 Yes No Ensembl:ENSG00000254395, GenAtlas:IGHV4-55, GeneCard:IGHV4-55, HGNC:HGNC:5653, NCBI Gene:28393, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107062126 107062561 106606116 106606551 +PA35251 28392 HGNC:5654 ENSG00000224373 immunoglobulin heavy variable 4-59 IGHV4-59 Yes No Ensembl:ENSG00000224373, GenAtlas:IGHV4-59, GeneCard:IGHV4-59, HGNC:HGNC:5654, NCBI Gene:28392, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107083254 107083685 106627249 106627680 +PA35252 28391 HGNC:5655 ENSG00000211970 immunoglobulin heavy variable 4-61 IGHV4-61 Yes No Ensembl:ENSG00000211970, GenAtlas:IGHV4-61, GeneCard:IGHV4-61, HGNC:HGNC:5655, NCBI Gene:28391, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107095124 107095561 106639119 106639556 +PA35253 28390 HGNC:5656 ENSG00000283906 immunoglobulin heavy variable 4-80 (pseudogene) IGHV4-80 Yes No Ensembl:ENSG00000283906, GenAtlas:IGHV4-80, GeneCard:IGHV4-80, HGNC:HGNC:5656, NCBI Gene:28390, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107280994 107281394 106872783 106873186 +PA35255 28317 HGNC:5658 ENSG00000259261 immunoglobulin heavy variable 4/OR15-8 (non-functional) IGHV4OR15-8 IGHV4/OR15-8, IGHV4OR158, VSIG6 Yes No Ensembl:ENSG00000259261, GenAtlas:IGHV4OR15-8, GeneCard:IGHV4OR15-8, HGNC:HGNC:5658, NCBI Gene:28317 No chr15 +PA35256 28388 HGNC:5659 ENSG00000211966 immunoglobulin heavy variable 5-51 IGHV5-51 Yes No Ensembl:ENSG00000211966, GenAtlas:IGHV5-51, GeneCard:IGHV5-51, HGNC:HGNC:5659, NCBI Gene:28388, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107034727 107035162 106578742 106579177 +PA35257 28387 HGNC:5660 ENSG00000211978 immunoglobulin heavy variable 5-78 (pseudogene) IGHV5-78 Yes No Ensembl:ENSG00000211978, GenAtlas:IGHV5-78, GeneCard:IGHV5-78, HGNC:HGNC:5660, NCBI Gene:28387, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437, RefSeq RNA:XR_078810, RefSeq RNA:XR_079345 No chr14 107259327 107259761 106851112 106851546 +PA35259 28385 HGNC:5662 ENSG00000211933 immunoglobulin heavy variable 6-1 IGHV6-1 Yes No Ensembl:ENSG00000211933, GenAtlas:IGHV6-1, GeneCard:IGHV6-1, HGNC:HGNC:5662, NCBI Gene:28385, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106405609 106406056 105939754 105940201 +PA35260 28383 HGNC:5663 ENSG00000254326 immunoglobulin heavy variable 7-27 (pseudogene) IGHV7-27 Yes No Ensembl:ENSG00000254326, GenAtlas:IGHV7-27, GeneCard:IGHV7-27, HGNC:HGNC:5663, NCBI Gene:28383, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106774086 106774499 106317823 106318236 +PA35262 28382 HGNC:5664 ENSG00000253325 immunoglobulin heavy variable 7-34-1 (pseudogene) IGHV7-34-1 Yes No Ensembl:ENSG00000253325, GenAtlas:IGHV7-34-1, GeneCard:IGHV7-34-1, HGNC:HGNC:5664, NCBI Gene:28382, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106833231 106833664 106377300 106377733 +PA35263 28381 HGNC:5666 ENSG00000253467 immunoglobulin heavy variable 7-40 (pseudogene) IGHV7-40 Yes No Ensembl:ENSG00000253467, GenAtlas:IGHV7-40, GeneCard:IGHV7-40, HGNC:HGNC:5666, NCBI Gene:28381, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106881264 106881466 106425359 106425561 +PA35261 57289 HGNC:5665 ENSG00000282122 immunoglobulin heavy variable 7-4-1 IGHV7-4-1 Yes No Ensembl:ENSG00000282122, GenAtlas:IGHV7-4-1, GeneCard:IGHV7-4-1, HGNC:HGNC:5665, NCBI Gene:57289 No chr14 +PA35264 28380 HGNC:5667 ENSG00000253131 immunoglobulin heavy variable 7-56 (pseudogene) IGHV7-56 Yes No Ensembl:ENSG00000253131, GenAtlas:IGHV7-56, GeneCard:IGHV7-56, HGNC:HGNC:5667, NCBI Gene:28380, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107065772 107066206 106609762 106610196 +PA35266 28378 HGNC:5669 ENSG00000211979 immunoglobulin heavy variable 7-81 (non-functional) IGHV7-81 Yes No Ensembl:ENSG00000211979, GenAtlas:IGHV7-81, GeneCard:IGHV7-81, HGNC:HGNC:5669, NCBI Gene:28378, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107282790 107283226 106874581 106875017 +PA35267 28377 HGNC:5670 ENSG00000254279 immunoglobulin heavy variable (II)-1-1 (pseudogene) IGHVII-1-1 IGHV(II)-1-1 Yes No Ensembl:ENSG00000254279, GenAtlas:IGHVII-1-1, GeneCard:IGHVII-1-1, HGNC:HGNC:5670, NCBI Gene:28377, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106410796 106411247 105944938 105945391 +PA35268 28376 HGNC:5671 ENSG00000253458 immunoglobulin heavy variable (II)-15-1 (pseudogene) IGHVII-15-1 IGHV(II)-15-1 Yes No Ensembl:ENSG00000253458, GenAtlas:IGHVII-15-1, GeneCard:IGHVII-15-1, HGNC:HGNC:5671, NCBI Gene:28376, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106620221 106620491 106163534 106163804 +PA35269 28375 HGNC:5672 immunoglobulin heavy variable (II)-20-1 (pseudogene) IGHVII-20-1 IGHV(II)-20-1 Yes No GenAtlas:IGHVII-20-1, GeneCard:IGHVII-20-1, HGNC:HGNC:5672, NCBI Gene:28375, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106669465 106669965 106212825 106213323 +PA35270 28374 HGNC:5673 ENSG00000253345 immunoglobulin heavy variable (II)-22-1 (pseudogene) IGHVII-22-1 IGHV(II)-22-1 Yes No Ensembl:ENSG00000253345, GenAtlas:IGHVII-22-1, GeneCard:IGHVII-22-1, HGNC:HGNC:5673, NCBI Gene:28374, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106719953 106720221 106263360 106263628 +PA35271 28373 HGNC:5674 ENSG00000253482 immunoglobulin heavy variable (II)-26-2 (pseudogene) IGHVII-26-2 IGHV(II)-26-2 Yes No Ensembl:ENSG00000253482, GenAtlas:IGHVII-26-2, GeneCard:IGHVII-26-2, HGNC:HGNC:5674, NCBI Gene:28373, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106770911 106771223 106314648 106314960 +PA35272 28372 HGNC:5675 ENSG00000253149 immunoglobulin heavy variable (II)-28-1 (pseudogene) IGHVII-28-1 IGHV(II)-28-1 Yes No Ensembl:ENSG00000253149, GenAtlas:IGHVII-28-1, GeneCard:IGHVII-28-1, HGNC:HGNC:5675, NCBI Gene:28372, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106785686 106785938 106329432 106329686 +PA35273 28371 HGNC:5676 ENSG00000253491 immunoglobulin heavy variable (II)-30-1 (pseudogene) IGHVII-30-1 IGHV(II)-30-1 Yes No Ensembl:ENSG00000253491, GenAtlas:IGHVII-30-1, GeneCard:IGHVII-30-1, HGNC:HGNC:5676, NCBI Gene:28371, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106798602 106798875 106342680 106342953 +PA35274 28370 HGNC:5677 immunoglobulin heavy variable (II)-31-1 (pseudogene) IGHVII-31-1 IGHV(II)-31-1 Yes No GenAtlas:IGHVII-31-1, GeneCard:IGHVII-31-1, HGNC:HGNC:5677, NCBI Gene:28370, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106810541 106810643 +PA35275 28369 HGNC:5678 ENSG00000254203 immunoglobulin heavy variable (II)-33-1 (pseudogene) IGHVII-33-1 IGHV(II)-33-1 Yes No Ensembl:ENSG00000254203, GenAtlas:IGHVII-33-1, GeneCard:IGHVII-33-1, HGNC:HGNC:5678, NCBI Gene:28369, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106823321 106823594 106367391 106367664 +PA35276 28368 HGNC:5679 ENSG00000253294 immunoglobulin heavy variable (II)-40-1 (pseudogene) IGHVII-40-1 IGHV(II)-40-1 Yes No Ensembl:ENSG00000253294, GenAtlas:IGHVII-40-1, GeneCard:IGHVII-40-1, HGNC:HGNC:5679, NCBI Gene:28368, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106896845 106896921 106440934 106441010 +PA35277 28367 HGNC:5680 ENSG00000283195 immunoglobulin heavy variable (II)-43-1 (pseudogene) IGHVII-43-1 IGHV(II)-43-1 Yes No Ensembl:ENSG00000283195, GenAtlas:IGHVII-43-1, GeneCard:IGHVII-43-1, HGNC:HGNC:5680, NCBI Gene:28367, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106928715 106928923 106472791 106473000 +PA35278 28366 HGNC:5681 ENSG00000253895 immunoglobulin heavy variable (II)-44-2 (pseudogene) IGHVII-44-2 IGHV(II)-44-2 Yes No Ensembl:ENSG00000253895, GenAtlas:IGHVII-44-2, GeneCard:IGHVII-44-2, HGNC:HGNC:5681, NCBI Gene:28366, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106950159 106950395 106494145 106494381 +PA35279 28365 HGNC:5682 ENSG00000253808 immunoglobulin heavy variable (II)-46-1 (pseudogene) IGHVII-46-1 IGHV(II)-46-1 Yes No Ensembl:ENSG00000253808, GenAtlas:IGHVII-46-1, GeneCard:IGHVII-46-1, HGNC:HGNC:5682, NCBI Gene:28365, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106971770 106972058 106515836 106516124 +PA35280 28364 HGNC:5683 ENSG00000253386 immunoglobulin heavy variable (II)-49-1 (pseudogene) IGHVII-49-1 IGHV(II)-49-1 Yes No Ensembl:ENSG00000253386, GenAtlas:IGHVII-49-1, GeneCard:IGHVII-49-1, HGNC:HGNC:5683, NCBI Gene:28364, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107020316 107020586 106564328 106564598 +PA35281 28363 HGNC:5684 ENSG00000253941 immunoglobulin heavy variable (II)-51-2 (pseudogene) IGHVII-51-2 IGHV(II)-51-2 Yes No Ensembl:ENSG00000253941, GenAtlas:IGHVII-51-2, GeneCard:IGHVII-51-2, HGNC:HGNC:5684, NCBI Gene:28363, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107040698 107040960 106584714 106584976 +PA35282 28362 HGNC:5685 ENSG00000253714 immunoglobulin heavy variable (II)-53-1 (pseudogene) IGHVII-53-1 IGHV(II)-53-1 Yes No Ensembl:ENSG00000253714, GenAtlas:IGHVII-53-1, GeneCard:IGHVII-53-1, HGNC:HGNC:5685, NCBI Gene:28362, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107055667 107055936 106599655 106599924 +PA35283 28361 HGNC:5686 ENSG00000254329 immunoglobulin heavy variable (II)-60-1 (pseudogene) IGHVII-60-1 IGHV(II)-60-1 Yes No Ensembl:ENSG00000254329, GenAtlas:IGHVII-60-1, GeneCard:IGHVII-60-1, HGNC:HGNC:5686, NCBI Gene:28361, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107093710 107093978 106637705 106637973 +PA35284 28360 HGNC:5687 ENSG00000253747 immunoglobulin heavy variable (II)-62-1 (pseudogene) IGHVII-62-1 IGHV(II)-62-1 Yes No Ensembl:ENSG00000253747, GenAtlas:IGHVII-62-1, GeneCard:IGHVII-62-1, HGNC:HGNC:5687, NCBI Gene:28360, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107106520 107106792 106650516 106650788 +PA35285 28359 HGNC:5688 ENSG00000253169 immunoglobulin heavy variable (II)-65-1 (pseudogene) IGHVII-65-1 IGHV(II)-65-1 Yes No Ensembl:ENSG00000253169, GenAtlas:IGHVII-65-1, GeneCard:IGHVII-65-1, HGNC:HGNC:5688, NCBI Gene:28359, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107127788 107128060 106671772 106672044 +PA35286 28358 HGNC:5689 ENSG00000253820 immunoglobulin heavy variable (II)-67-1 (pseudogene) IGHVII-67-1 IGHV(II)-67-1 Yes No Ensembl:ENSG00000253820, GenAtlas:IGHVII-67-1, GeneCard:IGHVII-67-1, HGNC:HGNC:5689, NCBI Gene:28358, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107142410 107142559 106686393 106686542 +PA35287 28357 HGNC:5690 ENSG00000254134 immunoglobulin heavy variable (II)-74-1 (pseudogene) IGHVII-74-1 IGHV(II)-74-1 Yes No Ensembl:ENSG00000254134, GenAtlas:IGHVII-74-1, GeneCard:IGHVII-74-1, HGNC:HGNC:5690, NCBI Gene:28357, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107229473 107229641 106821242 106821410 +PA35288 28356 HGNC:5691 ENSG00000253674 immunoglobulin heavy variable (II)-78-1 (pseudogene) IGHVII-78-1 IGHV(II)-78-1 Yes No Ensembl:ENSG00000253674, GenAtlas:IGHVII-78-1, GeneCard:IGHVII-78-1, HGNC:HGNC:5691, NCBI Gene:28356, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107273836 107274110 106865621 106865895 +PA35289 28352 HGNC:5692 ENSG00000254215 immunoglobulin heavy variable (III)-11-1 (pseudogene) IGHVIII-11-1 IGHV(III)-11-1 Yes No Ensembl:ENSG00000254215, GenAtlas:IGHVIII-11-1, GeneCard:IGHVIII-11-1, HGNC:HGNC:5692, NCBI Gene:28352, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106576885 106577071 106120289 106120475 +PA35290 28351 HGNC:5693 ENSG00000253412 immunoglobulin heavy variable (III)-13-1 (pseudogene) IGHVIII-13-1 IGHV(III)-13-1 Yes No Ensembl:ENSG00000253412, GenAtlas:IGHVIII-13-1, GeneCard:IGHVIII-13-1, HGNC:HGNC:5693, NCBI Gene:28351, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106598994 106599292 106142286 106142584 +PA35291 28350 HGNC:5694 ENSG00000283948 immunoglobulin heavy variable (III)-16-1 (pseudogene) IGHVIII-16-1 IGHV(III)-16-1 Yes No Ensembl:ENSG00000283948, GenAtlas:IGHVIII-16-1, GeneCard:IGHVIII-16-1, HGNC:HGNC:5694, NCBI Gene:28350, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106627436 106627740 106170746 106171051 +PA35292 28355 HGNC:5695 ENSG00000253780 immunoglobulin heavy variable (III)-2-1 (pseudogene) IGHVIII-2-1 IGHV(III)-2-1 Yes No Ensembl:ENSG00000253780, GenAtlas:IGHVIII-2-1, GeneCard:IGHVIII-2-1, HGNC:HGNC:5695, NCBI Gene:28355, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106467677 106467978 106001534 106001835 +PA35293 28349 HGNC:5696 ENSG00000254045 immunoglobulin heavy variable (III)-22-2 (pseudogene) IGHVIII-22-2 IGHV(III)-22-2 Yes No Ensembl:ENSG00000254045, GenAtlas:IGHVIII-22-2, GeneCard:IGHVIII-22-2, HGNC:HGNC:5696, NCBI Gene:28349, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106721279 106721466 106264686 106264873 +PA35294 28348 HGNC:5697 ENSG00000253367 immunoglobulin heavy variable (III)-25-1 (pseudogene) IGHVIII-25-1 IGHV(III)-25-1 Yes No Ensembl:ENSG00000253367, GenAtlas:IGHVIII-25-1, GeneCard:IGHVIII-25-1, HGNC:HGNC:5697, NCBI Gene:28348, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106750160 106750401 106293566 106293807 +PA35295 28347 HGNC:5698 ENSG00000253462 immunoglobulin heavy variable (III)-26-1 (pseudogene) IGHVIII-26-1 IGHV(III)-26-1 Yes No Ensembl:ENSG00000253462, GenAtlas:IGHVIII-26-1, GeneCard:IGHVIII-26-1, HGNC:HGNC:5698, NCBI Gene:28347, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106765667 106765973 106309406 106309712 +PA35296 28346 HGNC:5699 ENSG00000253989 immunoglobulin heavy variable (III)-38-1 (pseudogene) IGHVIII-38-1 IGHV(III)-38-1 Yes No Ensembl:ENSG00000253989, GenAtlas:IGHVIII-38-1, GeneCard:IGHVIII-38-1, HGNC:HGNC:5699, NCBI Gene:28346, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106873935 106874227 106418018 106418310 +PA35297 28345 HGNC:5700 ENSG00000283562 immunoglobulin heavy variable (III)-44 (pseudogene) IGHVIII-44 IGHV(III)-44 Yes No Ensembl:ENSG00000283562, GenAtlas:IGHVIII-44, GeneCard:IGHVIII-44, HGNC:HGNC:5700, NCBI Gene:28345, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106934223 106934399 106478217 106478393 +PA35298 28344 HGNC:5701 ENSG00000253862 immunoglobulin heavy variable (III)-47-1 (pseudogene) IGHVIII-47-1 IGHV(III)-47-1 Yes No Ensembl:ENSG00000253862, GenAtlas:IGHVIII-47-1, GeneCard:IGHVIII-47-1, HGNC:HGNC:5701, NCBI Gene:28344, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106987135 106987438 106531133 106531436 +PA35299 28354 HGNC:5702 ENSG00000253387 immunoglobulin heavy variable (III)-5-1 (pseudogene) IGHVIII-5-1 IGHV(III)-5-1 Yes No Ensembl:ENSG00000253387, GenAtlas:IGHVIII-5-1, GeneCard:IGHVIII-5-1, HGNC:HGNC:5702, NCBI Gene:28354, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106495898 106495996 106039666 106039764 +PA35300 28353 HGNC:5703 ENSG00000254053 immunoglobulin heavy variable (III)-5-2 (pseudogene) IGHVIII-5-2 IGHV(III)-5-2 Yes No Ensembl:ENSG00000254053, GenAtlas:IGHVIII-5-2, GeneCard:IGHVIII-5-2, HGNC:HGNC:5703, NCBI Gene:28353, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106501831 106502091 106045600 106045860 +PA35302 28342 HGNC:5705 ENSG00000254036 immunoglobulin heavy variable (III)-67-2 (pseudogene) IGHVIII-67-2 IGHV(III)-67-2 Yes No Ensembl:ENSG00000254036, GenAtlas:IGHVIII-67-2, GeneCard:IGHVIII-67-2, HGNC:HGNC:5705, NCBI Gene:28342, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107143119 107143217 106687102 106687200 +PA35303 28341 HGNC:5706 ENSG00000253635 immunoglobulin heavy variable (III)-67-3 (pseudogene) IGHVIII-67-3 IGHV(III)-67-3 Yes No Ensembl:ENSG00000253635, GenAtlas:IGHVIII-67-3, GeneCard:IGHVIII-67-3, HGNC:HGNC:5706, NCBI Gene:28341, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107148631 107148905 106692614 106692888 +PA35304 28340 HGNC:5707 ENSG00000254052 immunoglobulin heavy variable (III)-67-4 (pseudogene) IGHVIII-67-4 IGHV(III)-67-4 Yes No Ensembl:ENSG00000254052, GenAtlas:IGHVIII-67-4, GeneCard:IGHVIII-67-4, HGNC:HGNC:5707, NCBI Gene:28340, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107151109 107151414 106695092 106695397 +PA35305 28339 HGNC:5708 ENSG00000253310 immunoglobulin heavy variable (III)-76-1 (pseudogene) IGHVIII-76-1 IGHV(III)-76-1 Yes No Ensembl:ENSG00000253310, GenAtlas:IGHVIII-76-1, GeneCard:IGHVIII-76-1, HGNC:HGNC:5708, NCBI Gene:28339, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107239990 107240296 106831763 106832069 +PA35306 28338 HGNC:5709 ENSG00000253303 immunoglobulin heavy variable (III)-82 (pseudogene) IGHVIII-82 IGHV(III)-82 Yes No Ensembl:ENSG00000253303, GenAtlas:IGHVIII-82, GeneCard:IGHVIII-82, HGNC:HGNC:5709, NCBI Gene:28338, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107287760 107288051 106879553 106879844 +PA35307 28337 HGNC:5710 ENSG00000253465 immunoglobulin heavy variable (IV)-44-1 (pseudogene) IGHVIV-44-1 IGHV(IV)-44-1 Yes No Ensembl:ENSG00000253465, GenAtlas:IGHVIV-44-1, GeneCard:IGHVIV-44-1, HGNC:HGNC:5710, NCBI Gene:28337, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106945349 106945777 106489342 106489770 +PA164717341 492311 HGNC:33847 ENSG00000182700 IgA inducing protein IGIP IgA-inducing protein, IgA-inducing protein homolog (Bos taurus) C5orf53, LOC492311 Yes No Ensembl:ENSG00000182700, GeneCard:IGIP, HGNC:HGNC:33847, NCBI Gene:492311, RefSeq DNA:NT_029289, RefSeq Protein:NP_001007190, RefSeq RNA:NM_001007189, UniProtKB:A6NJ69 No chr5 139505521 139508391 140125936 140128806 +PA35310 50802 HGNC:5715 immunoglobulin kappa locus IGK IGK@ Yes No GenAtlas:IGK@, GeneCard:IGK@, HGNC:HGNC:5715, NCBI Gene:50802, RefSeq DNA:NG_000833, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184, RefSeq DNA:NT_032994 No chr2 +PA29735 3514 HGNC:5716 ENSG00000211592 immunoglobulin kappa constant IGKC HCAK1 Yes No Comparative Toxicogenomics Database:3514, Ensembl:ENSG00000211592, GenAtlas:IGKC, GeneCard:IGKC, HGNC:HGNC:5716, ModBase:P01834, NCBI Gene:3514, OMIM:147200, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89156874 89157196 88857361 88857683 +PA29736 3515 HGNC:5717 immunoglobulin kappa deleting element or like IGKDEL Yes No GenAtlas:IGKDEL, GeneCard:IGKDEL, HGNC:HGNC:5717, NCBI Gene:3515, OMIM:146780, RefSeq DNA:NG_000834 No chr2 +PA35311 7842 HGNC:5718 immunoglobulin kappa joining group IGKJ@ Yes No GenAtlas:IGKJ@, GeneCard:IGKJ@, HGNC:HGNC:5718, NCBI Gene:7842, OMIM:146970 No chr2 +PA29737 28950 HGNC:5719 ENSG00000211597 immunoglobulin kappa joining 1 IGKJ1 J1 Yes No Ensembl:ENSG00000211597, GenAtlas:IGKJ1, GeneCard:IGKJ1, HGNC:HGNC:5719, NCBI Gene:28950, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89161398 89161435 88861886 88861923 +PA29738 28949 HGNC:5720 ENSG00000211596 immunoglobulin kappa joining 2 IGKJ2 J2 Yes No Ensembl:ENSG00000211596, GenAtlas:IGKJ2, GeneCard:IGKJ2, HGNC:HGNC:5720, NCBI Gene:28949, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89161037 89161075 88861525 88861563 +PA29739 28948 HGNC:5721 ENSG00000211595 immunoglobulin kappa joining 3 IGKJ3 Yes No Ensembl:ENSG00000211595, GenAtlas:IGKJ3, GeneCard:IGKJ3, HGNC:HGNC:5721, NCBI Gene:28948, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89160733 89160770 88861221 88861258 +PA29740 28947 HGNC:5722 ENSG00000211594 immunoglobulin kappa joining 4 IGKJ4 Yes No Ensembl:ENSG00000211594, GenAtlas:IGKJ4, GeneCard:IGKJ4, HGNC:HGNC:5722, NCBI Gene:28947, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89160398 89160435 88860886 88860923 +PA29741 28946 HGNC:5723 ENSG00000211593 immunoglobulin kappa joining 5 IGKJ5 Yes No Ensembl:ENSG00000211593, GenAtlas:IGKJ5, GeneCard:IGKJ5, HGNC:HGNC:5723, NCBI Gene:28946, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89160080 89160117 88860568 88860605 +PA35312 3519 HGNC:5728 immunoglobulin kappa variable group IGKV@ Yes No GenAtlas:IGKV@, GeneCard:IGKV@, HGNC:HGNC:5728, NCBI Gene:3519, OMIM:146980 No chr2 +PA35313 28940 HGNC:5730 ENSG00000243290 immunoglobulin kappa variable 1-12 IGKV1-12 IGKV112, L19 Yes No Ensembl:ENSG00000243290, GenAtlas:IGKV1-12, GeneCard:IGKV1-12, HGNC:HGNC:5730, NCBI Gene:28940, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89339721 89340195 89040224 89040698 +PA35314 28939 HGNC:5731 ENSG00000253497 immunoglobulin kappa variable 1-13 (gene/pseudogene) IGKV1-13 Yes No Ensembl:ENSG00000253497, GenAtlas:IGKV1-13, GeneCard:IGKV1-13, HGNC:HGNC:5731, NCBI Gene:28939, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89345487 89345963 89045990 89046466 +PA35315 28938 HGNC:5732 ENSG00000240864 immunoglobulin kappa variable 1-16 IGKV1-16 IGKV116, L1 Yes No Ensembl:ENSG00000240864, GenAtlas:IGKV1-16, GeneCard:IGKV1-16, HGNC:HGNC:5732, NCBI Gene:28938, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89399352 89399827 89099859 89100334 +PA35316 28937 HGNC:5733 ENSG00000240382 immunoglobulin kappa variable 1-17 IGKV1-17 A30, IGKV117 Yes No Ensembl:ENSG00000240382, GenAtlas:IGKV1-17, GeneCard:IGKV1-17, HGNC:HGNC:5733, NCBI Gene:28937, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89416833 89417308 89117342 89117817 +PA35317 28936 HGNC:5734 ENSG00000253578 immunoglobulin kappa variable 1-22 (pseudogene) IGKV1-22 Yes No Ensembl:ENSG00000253578, GenAtlas:IGKV1-22, GeneCard:IGKV1-22, HGNC:HGNC:5734, NCBI Gene:28936, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89470229 89470696 89170745 89171212 +PA35318 28935 HGNC:5735 ENSG00000244575 immunoglobulin kappa variable 1-27 IGKV1-27 A20, IGKV127 Yes No Ensembl:ENSG00000244575, GenAtlas:IGKV1-27, GeneCard:IGKV1-27, HGNC:HGNC:5735, NCBI Gene:28935, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89512908 89513382 89213423 89213897 +PA35319 28934 HGNC:5736 ENSG00000253870 immunoglobulin kappa variable 1-32 (pseudogene) IGKV1-32 Yes No Ensembl:ENSG00000253870, GenAtlas:IGKV1-32, GeneCard:IGKV1-32, HGNC:HGNC:5736, NCBI Gene:28934, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89553027 89553501 89253541 89254015 +PA35320 28933 HGNC:5737 ENSG00000242076 immunoglobulin kappa variable 1-33 IGKV1-33 IGKV133, O18 Yes No Ensembl:ENSG00000242076, GenAtlas:IGKV1-33, GeneCard:IGKV1-33, HGNC:HGNC:5737, NCBI Gene:28933, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89567758 89568232 89268001 89268475 +PA35321 28932 HGNC:5738 ENSG00000253461 immunoglobulin kappa variable 1-35 (pseudogene) IGKV1-35 Yes No Ensembl:ENSG00000253461, GenAtlas:IGKV1-35, GeneCard:IGKV1-35, HGNC:HGNC:5738, NCBI Gene:28932, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89586453 89586927 89286696 89287170 +PA35322 28931 HGNC:5739 ENSG00000239862 immunoglobulin kappa variable 1-37 (non-functional) IGKV1-37 IGKV137, O14 Yes No Ensembl:ENSG00000239862, GenAtlas:IGKV1-37, GeneCard:IGKV1-37, HGNC:HGNC:5739, NCBI Gene:28931, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89597021 89597495 89297264 89297738 +PA35323 28930 HGNC:5740 ENSG00000242371 immunoglobulin kappa variable 1-39 (gene/pseudogene) IGKV1-39 Yes No Ensembl:ENSG00000242371, GenAtlas:IGKV1-39, GeneCard:IGKV1-39, HGNC:HGNC:5740, NCBI Gene:28930, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89619383 89619857 89319625 89320099 +PA35324 28299 HGNC:5741 ENSG00000243466 immunoglobulin kappa variable 1-5 IGKV1-5 Yes No Ensembl:ENSG00000243466, GenAtlas:IGKV1-5, GeneCard:IGKV1-5, HGNC:HGNC:5741, ModBase:P01602, NCBI Gene:28299, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89246819 89247294 88947301 88947776 +PA35325 28943 HGNC:5742 ENSG00000239855 immunoglobulin kappa variable 1-6 IGKV1-6 Yes No Ensembl:ENSG00000239855, GenAtlas:IGKV1-6, GeneCard:IGKV1-6, HGNC:HGNC:5742, NCBI Gene:28943, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89265781 89266257 88966262 88966738 +PA35326 28942 HGNC:5743 ENSG00000240671 immunoglobulin kappa variable 1-8 IGKV1-8 IGKV18, L9 Yes No Ensembl:ENSG00000240671, GenAtlas:IGKV1-8, GeneCard:IGKV1-8, HGNC:HGNC:5743, NCBI Gene:28942, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89291928 89292397 88992409 88992878 +PA35327 28941 HGNC:5744 ENSG00000241755 immunoglobulin kappa variable 1-9 IGKV1-9 IGKV19, L8 Yes No Ensembl:ENSG00000241755, GenAtlas:IGKV1-9, GeneCard:IGKV1-9, HGNC:HGNC:5744, NCBI Gene:28941, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89309479 89309954 89009982 89010457 +PA35328 28903 HGNC:5746 ENSG00000278857 immunoglobulin kappa variable 1D-12 IGKV1D-12 Yes No Ensembl:ENSG00000278857, GenAtlas:IGKV1D-12, GeneCard:IGKV1D-12, HGNC:HGNC:5746, NCBI Gene:28903, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90198716 90199190 90159860 90160335 +PA35329 28902 HGNC:5747 ENSG00000276566 immunoglobulin kappa variable 1D-13 IGKV1D-13 Yes No Ensembl:ENSG00000276566, GenAtlas:IGKV1D-13, GeneCard:IGKV1D-13, HGNC:HGNC:5747, NCBI Gene:28902, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90192948 90193424 90154098 90154574 +PA35330 28901 HGNC:5748 ENSG00000241244 immunoglobulin kappa variable 1D-16 IGKV1D-16 Yes No Ensembl:ENSG00000241244, GenAtlas:IGKV1D-16, GeneCard:IGKV1D-16, HGNC:HGNC:5748, NCBI Gene:28901, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90139105 90139580 90100263 90100738 +PA35331 28900 HGNC:5749 ENSG00000242766 immunoglobulin kappa variable 1D-17 IGKV1D-17 Yes No Ensembl:ENSG00000242766, GenAtlas:IGKV1D-17, GeneCard:IGKV1D-17, HGNC:HGNC:5749, NCBI Gene:28900, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90121658 90122133 90082816 90083291 +PA35332 28899 HGNC:5750 ENSG00000253365 immunoglobulin kappa variable 1D-22 (pseudogene) IGKV1D-22 Yes No Ensembl:ENSG00000253365, GenAtlas:IGKV1D-22, GeneCard:IGKV1D-22, HGNC:HGNC:5750, NCBI Gene:28899, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90049551 90050018 90010741 90011208 +PA35333 28898 HGNC:5751 ENSG00000224607 immunoglobulin kappa variable 1D-27 (pseudogene) IGKV1D-27 Yes No Ensembl:ENSG00000224607, GenAtlas:IGKV1D-27, GeneCard:IGKV1D-27, HGNC:HGNC:5751, NCBI Gene:28898, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90007679 90008154 89968869 89969344 +PA35334 28897 HGNC:5752 ENSG00000253191 immunoglobulin kappa variable 1D-32 (pseudogene) IGKV1D-32 Yes No Ensembl:ENSG00000253191, GenAtlas:IGKV1D-32, GeneCard:IGKV1D-32, HGNC:HGNC:5752, NCBI Gene:28897, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89967232 89967706 89928422 89928896 +PA35335 28896 HGNC:5753 ENSG00000239975 immunoglobulin kappa variable 1D-33 IGKV1D-33 Yes No Ensembl:ENSG00000239975, GenAtlas:IGKV1D-33, GeneCard:IGKV1D-33, HGNC:HGNC:5753, NCBI Gene:28896, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89952881 89953355 89914071 89914545 +PA35336 28895 HGNC:5754 ENSG00000232747 immunoglobulin kappa variable 1D-35 (pseudogene) IGKV1D-35 Yes No Ensembl:ENSG00000232747, GenAtlas:IGKV1D-35, GeneCard:IGKV1D-35, HGNC:HGNC:5754, NCBI Gene:28895, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89934124 89934598 89895314 89895788 +PA35337 28894 HGNC:5755 ENSG00000250036 immunoglobulin kappa variable 1D-37 (non-functional) IGKV1D-37 IGKV1D37, O4 Yes No Ensembl:ENSG00000250036, GenAtlas:IGKV1D-37, GeneCard:IGKV1D-37, HGNC:HGNC:5755, NCBI Gene:28894, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89923550 89924024 89884740 89885214 +PA35338 28893 HGNC:5756 ENSG00000251546 immunoglobulin kappa variable 1D-39 IGKV1D-39 Yes No Ensembl:ENSG00000251546, GenAtlas:IGKV1D-39, GeneCard:IGKV1D-39, HGNC:HGNC:5756, NCBI Gene:28893, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89901315 89901789 89862505 89862979 +PA35339 28892 HGNC:5757 ENSG00000211633 immunoglobulin kappa variable 1D-42 (non-functional) IGKV1D-42 Yes No Ensembl:ENSG00000211633, GenAtlas:IGKV1D-42, GeneCard:IGKV1D-42, HGNC:HGNC:5757, NCBI Gene:28892, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90229065 90229531 90190213 90190679 +PA35340 28891 HGNC:5758 ENSG00000242580 immunoglobulin kappa variable 1D-43 IGKV1D-43 Yes No Ensembl:ENSG00000242580, GenAtlas:IGKV1D-43, GeneCard:IGKV1D-43, HGNC:HGNC:5758, NCBI Gene:28891, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90248920 90249395 90210054 90210529 +PA35341 28904 HGNC:5759 ENSG00000239819 immunoglobulin kappa variable 1D-8 IGKV1D-8 Yes No Ensembl:ENSG00000239819, GenAtlas:IGKV1D-8, GeneCard:IGKV1D-8, HGNC:HGNC:5759, NCBI Gene:28904, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90259774 90260248 90220908 90221382 +PA35346 3525 HGNC:5764 ENSG00000276674 immunoglobulin kappa variable 1/OR1-1 (pseudogene) IGKV1OR1-1 IGKV1/OR1-1 Yes No Ensembl:ENSG00000276674, GenAtlas:IGKV1OR1-1, GeneCard:IGKV1OR1-1, HGNC:HGNC:5764, NCBI Gene:3525, RefSeq DNA:NG_011766 No chr1 901035 901511 144085613 144086353 +PA35347 100312985 HGNC:5765 immunoglobulin kappa variable 1/OR15-118 (pseudogene) IGKV1OR15-118 IGKV1/OR-118, IGKV1/OR15-118 Yes No Comparative Toxicogenomics Database:3526, GenAtlas:IGKV1OR15-118, GeneCard:IGKV1OR15-118, HGNC:HGNC:5765, NCBI Gene:100312985 No chr15 +PA35343 3532 HGNC:5761 ENSG00000156755 immunoglobulin kappa variable 1/OR-2 (pseudogene) IGKV1OR-2 IGKV1/OR-2 Yes No Ensembl:ENSG00000156755, GenAtlas:IGKV1OR-2, GeneCard:IGKV1OR-2, HGNC:HGNC:5761, NCBI Gene:3532, RefSeq DNA:NT_078070 No chr9 69777474 69777957 64765056 64765539 +PA35348 28867 HGNC:5766 immunoglobulin kappa variable 1/OR2-0 (non-functional) IGKV1OR2-0 IGKV1/OR2-0 Yes No GenAtlas:IGKV1OR2-0, GeneCard:IGKV1OR2-0, HGNC:HGNC:5766, NCBI Gene:28867 No chr1 +PA35349 28862 HGNC:5767 ENSG00000231292 immunoglobulin kappa variable 1/OR2-108 (non-functional) IGKV1OR2-108 immunoglobulin orphon (transposed element) 1 IGKV1/OR2-108, IGKV1OR2108, IGO1 Yes No Ensembl:ENSG00000231292, GenAtlas:IGKV1OR2-108, GeneCard:IGKV1OR2-108, HGNC:HGNC:5767, NCBI Gene:28862, OMIM:147185 No chr2 +PA35350 28863 HGNC:5768 ENSG00000270187 immunoglobulin kappa variable 1/OR2-11 (pseudogene) IGKV1OR2-11 IGKV1/OR2-11 Yes No Ensembl:ENSG00000270187, GenAtlas:IGKV1OR2-11, GeneCard:IGKV1OR2-11, HGNC:HGNC:5768, NCBI Gene:28863 No chr1 +PA35354 3530 HGNC:5772 ENSG00000253481 immunoglobulin kappa variable 1/OR22-1 (pseudogene) IGKV1OR22-1 IGKV1/OR22-1 Yes No Ensembl:ENSG00000253481, GenAtlas:IGKV1OR22-1, GeneCard:IGKV1OR22-1, HGNC:HGNC:5772, NCBI Gene:3530, RefSeq DNA:NG_011658, RefSeq DNA:NT_011519 No chr22 17413617 17415543 16932727 16934653 +PA35355 28850 HGNC:5773 ENSG00000230481 immunoglobulin kappa variable 1/OR22-5 (pseudogene) IGKV1OR22-5 IGKV1/OR22-5, IGKV1/OR22-5A Yes No Ensembl:ENSG00000230481, GenAtlas:IGKV1OR22-5, GeneCard:IGKV1OR22-5, HGNC:HGNC:5773, NCBI Gene:28850 No chr22 +PA35351 28866 HGNC:5769 ENSG00000204670 immunoglobulin kappa variable 1/OR2-3 (pseudogene) IGKV1OR2-3 IGKV1/OR2-3 Yes No Ensembl:ENSG00000204670, GenAtlas:IGKV1OR2-3, GeneCard:IGKV1OR2-3, HGNC:HGNC:5769, NCBI Gene:28866 No chr1 +PA35352 28865 HGNC:5770 ENSG00000271569 immunoglobulin kappa variable 1/OR2-6 (pseudogene) IGKV1OR2-6 IGKV1/OR2-6 Yes No Ensembl:ENSG00000271569, GenAtlas:IGKV1OR2-6, GeneCard:IGKV1OR2-6, HGNC:HGNC:5770, NCBI Gene:28865 No chr1 +PA35353 28864 HGNC:5771 ENSG00000271351 immunoglobulin kappa variable 1/OR2-9 (pseudogene) IGKV1OR2-9 IGKV1/OR2-9 Yes No Ensembl:ENSG00000271351, GenAtlas:IGKV1OR2-9, GeneCard:IGKV1OR2-9, HGNC:HGNC:5771, NCBI Gene:28864 No chr1 +PA35344 644731 HGNC:5762 ENSG00000204776 immunoglobulin kappa variable 1/OR-3 (pseudogene) IGKV1OR-3 IGKV1/OR-3 Yes No Ensembl:ENSG00000204776, GenAtlas:IGKV1OR-3, GeneCard:IGKV1OR-3, HGNC:HGNC:5762, NCBI Gene:644731, RefSeq DNA:NT_113816, RefSeq Protein:XP_932922, RefSeq RNA:XM_927829 No chr9 +PA35345 3534 HGNC:5763 immunoglobulin kappa variable 1/OR-4 pseudogene IGKV1OR-4 Yes No GenAtlas:IGKV1OR-4, GeneCard:IGKV1OR-4, HGNC:HGNC:5763, NCBI Gene:3534 No +PA35356 28928 HGNC:5776 ENSG00000253278 immunoglobulin kappa variable 2-10 (pseudogene) IGKV2-10 Yes No Ensembl:ENSG00000253278, GenAtlas:IGKV2-10, GeneCard:IGKV2-10, HGNC:HGNC:5776, NCBI Gene:28928, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89319489 89320182 89019992 89020685 +PA35357 28927 HGNC:5777 ENSG00000253265 immunoglobulin kappa variable 2-14 (pseudogene) IGKV2-14 Yes No Ensembl:ENSG00000253265, GenAtlas:IGKV2-14, GeneCard:IGKV2-14, HGNC:HGNC:5777, NCBI Gene:28927, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89377515 89378280 89078019 89078784 +PA35358 28926 HGNC:5778 ENSG00000254157 immunoglobulin kappa variable 2-18 (pseudogene) IGKV2-18 Yes No Ensembl:ENSG00000254157, GenAtlas:IGKV2-18, GeneCard:IGKV2-18, HGNC:HGNC:5778, NCBI Gene:28926, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89428189 89428965 89128706 89129482 +PA35359 28925 HGNC:5779 ENSG00000253732 immunoglobulin kappa variable 2-19 (pseudogene) IGKV2-19 Yes No Ensembl:ENSG00000253732, GenAtlas:IGKV2-19, GeneCard:IGKV2-19, HGNC:HGNC:5779, NCBI Gene:28925, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89434464 89434730 89134981 89135247 +PA35360 28924 HGNC:5780 ENSG00000253625 immunoglobulin kappa variable 2-23 (pseudogene) IGKV2-23 Yes No Ensembl:ENSG00000253625, GenAtlas:IGKV2-23, GeneCard:IGKV2-23, HGNC:HGNC:5780, NCBI Gene:28924, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89471812 89472527 89172328 89173043 +PA35361 28923 HGNC:5781 ENSG00000241294 immunoglobulin kappa variable 2-24 IGKV2-24 Yes No Ensembl:ENSG00000241294, GenAtlas:IGKV2-24, GeneCard:IGKV2-24, HGNC:HGNC:5781, NCBI Gene:28923, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89475812 89476614 89176328 89177130 +PA35362 28922 HGNC:5782 ENSG00000254098 immunoglobulin kappa variable 2-26 (pseudogene) IGKV2-26 Yes No Ensembl:ENSG00000254098, GenAtlas:IGKV2-26, GeneCard:IGKV2-26, HGNC:HGNC:5782, NCBI Gene:28922, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89495564 89496317 89196076 89196829 +PA35363 28921 HGNC:5783 ENSG00000244116 immunoglobulin kappa variable 2-28 IGKV2-28 Yes No Ensembl:ENSG00000244116, GenAtlas:IGKV2-28, GeneCard:IGKV2-28, HGNC:HGNC:5783, NCBI Gene:28921, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89521179 89521912 89221698 89222431 +PA35364 28920 HGNC:5784 ENSG00000253998 immunoglobulin kappa variable 2-29 (gene/pseudogene) IGKV2-29 Yes No Ensembl:ENSG00000253998, GenAtlas:IGKV2-29, GeneCard:IGKV2-29, HGNC:HGNC:5784, NCBI Gene:28920, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89533666 89534392 89234185 89234911 +PA35365 28919 HGNC:5785 ENSG00000243238 immunoglobulin kappa variable 2-30 IGKV2-30 Yes No Ensembl:ENSG00000243238, GenAtlas:IGKV2-30, GeneCard:IGKV2-30, HGNC:HGNC:5785, NCBI Gene:28919, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89544264 89545049 89244781 89245566 +PA35366 28918 HGNC:5786 ENSG00000253487 immunoglobulin kappa variable 2-36 (pseudogene) IGKV2-36 Yes No Ensembl:ENSG00000253487, GenAtlas:IGKV2-36, GeneCard:IGKV2-36, HGNC:HGNC:5786, NCBI Gene:28918, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89594981 89595214 89295224 89295457 +PA35367 28917 HGNC:5787 ENSG00000253592 immunoglobulin kappa variable 2-38 (pseudogene) IGKV2-38 Yes No Ensembl:ENSG00000253592, GenAtlas:IGKV2-38, GeneCard:IGKV2-38, HGNC:HGNC:5787, NCBI Gene:28917, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89609660 89609899 89309903 89310142 +PA35368 28929 HGNC:5788 ENSG00000253435 immunoglobulin kappa variable 2-4 (pseudogene) IGKV2-4 Yes No Ensembl:ENSG00000253435, GenAtlas:IGKV2-4, GeneCard:IGKV2-4, HGNC:HGNC:5788, NCBI Gene:28929, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89231169 89231896 88931651 88932378 +PA35369 28916 HGNC:5789 ENSG00000273962 immunoglobulin kappa variable 2-40 IGKV2-40 Yes No Ensembl:ENSG00000273962, GenAtlas:IGKV2-40, GeneCard:IGKV2-40, HGNC:HGNC:5789, NCBI Gene:28916, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89629873 89630187 89330116 89330430 +PA35370 28890 HGNC:5792 ENSG00000253906 immunoglobulin kappa variable 2D-10 (pseudogene) IGKV2D-10 Yes No Ensembl:ENSG00000253906, GenAtlas:IGKV2D-10, GeneCard:IGKV2D-10, HGNC:HGNC:5792, NCBI Gene:28890, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90218731 90219496 90179890 90180655 +PA35371 28889 HGNC:5793 ENSG00000254292 immunoglobulin kappa variable 2D-14 (pseudogene) IGKV2D-14 Yes No Ensembl:ENSG00000254292, GenAtlas:IGKV2D-14, GeneCard:IGKV2D-14, HGNC:HGNC:5793, NCBI Gene:28889, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90160639 90161404 90121787 90122552 +PA35372 28888 HGNC:5794 ENSG00000254220 immunoglobulin kappa variable 2D-18 (pseudogene) IGKV2D-18 Yes No Ensembl:ENSG00000254220, GenAtlas:IGKV2D-18, GeneCard:IGKV2D-18, HGNC:HGNC:5794, NCBI Gene:28888, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90091428 90092204 90052582 90053358 +PA35373 28887 HGNC:5795 ENSG00000253765 immunoglobulin kappa variable 2D-19 (pseudogene) IGKV2D-19 Yes No Ensembl:ENSG00000253765, GenAtlas:IGKV2D-19, GeneCard:IGKV2D-19, HGNC:HGNC:5795, NCBI Gene:28887, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90085638 90085904 90046806 90047072 +PA35374 28886 HGNC:5796 ENSG00000254345 immunoglobulin kappa variable 2D-23 (pseudogene) IGKV2D-23 Yes No Ensembl:ENSG00000254345, GenAtlas:IGKV2D-23, GeneCard:IGKV2D-23, HGNC:HGNC:5796, NCBI Gene:28886, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90047721 90048726 90008911 90009916 +PA35375 28885 HGNC:5797 ENSG00000241566 immunoglobulin kappa variable 2D-24 (non-functional) IGKV2D-24 Yes No Ensembl:ENSG00000241566, GenAtlas:IGKV2D-24, GeneCard:IGKV2D-24, HGNC:HGNC:5797, NCBI Gene:28885, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90043637 90044439 90004827 90005629 +PA35376 28884 HGNC:5798 ENSG00000211623 immunoglobulin kappa variable 2D-26 IGKV2D-26 Yes No Ensembl:ENSG00000211623, GenAtlas:IGKV2D-26, GeneCard:IGKV2D-26, HGNC:HGNC:5798, NCBI Gene:28884, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90024762 90025514 89985952 89986704 +PA35377 28883 HGNC:5799 ENSG00000242534 immunoglobulin kappa variable 2D-28 IGKV2D-28 Yes No Ensembl:ENSG00000242534, GenAtlas:IGKV2D-28, GeneCard:IGKV2D-28, HGNC:HGNC:5799, NCBI Gene:28883, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89998825 89999557 89960015 89960747 +PA35378 28882 HGNC:5800 ENSG00000243264 immunoglobulin kappa variable 2D-29 IGKV2D-29 Yes No Ensembl:ENSG00000243264, GenAtlas:IGKV2D-29, GeneCard:IGKV2D-29, HGNC:HGNC:5800, NCBI Gene:28882, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89986352 89987081 89947542 89948271 +PA35379 28881 HGNC:5801 ENSG00000239571 immunoglobulin kappa variable 2D-30 IGKV2D-30 Yes No Ensembl:ENSG00000239571, GenAtlas:IGKV2D-30, GeneCard:IGKV2D-30, HGNC:HGNC:5801, NCBI Gene:28881, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89975704 89976489 89936894 89937679 +PA35380 28880 HGNC:5802 ENSG00000253127 immunoglobulin kappa variable 2D-36 (pseudogene) IGKV2D-36 Yes No Ensembl:ENSG00000253127, GenAtlas:IGKV2D-36, GeneCard:IGKV2D-36, HGNC:HGNC:5802, NCBI Gene:28880, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89925831 89926064 89887021 89887254 +PA35381 28879 HGNC:5803 ENSG00000254009 immunoglobulin kappa variable 2D-38 (pseudogene) IGKV2D-38 Yes No Ensembl:ENSG00000254009, GenAtlas:IGKV2D-38, GeneCard:IGKV2D-38, HGNC:HGNC:5803, NCBI Gene:28879, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89911273 89911512 89872463 89872702 +PA35382 28878 HGNC:5804 ENSG00000251039 immunoglobulin kappa variable 2D-40 IGKV2D-40 Yes No Ensembl:ENSG00000251039, GenAtlas:IGKV2D-40, GeneCard:IGKV2D-40, HGNC:HGNC:5804, NCBI Gene:28878, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89890568 89891301 89851758 89852491 +PA35383 28861 HGNC:5805 ENSG00000270748 immunoglobulin kappa variable 2/OR2-1 (pseudogene) IGKV2OR2-1 IGKV2/OR2-1, IGKV2/OR2-1A Yes No Ensembl:ENSG00000270748, GenAtlas:IGKV2OR2-1, GeneCard:IGKV2OR2-1, HGNC:HGNC:5805, NCBI Gene:28861 No chr2 +PA35384 28855 HGNC:5806 ENSG00000276050 immunoglobulin kappa variable 2/OR2-10 (pseudogene) IGKV2OR2-10 IGKV2/OR2-10 Yes No Ensembl:ENSG00000276050, GenAtlas:IGKV2OR2-10, GeneCard:IGKV2OR2-10, HGNC:HGNC:5806, NCBI Gene:28855, RefSeq DNA:NG_011661 No chr2 97996726 97997444 97376255 97376973 +PA35385 28859 HGNC:5808 ENSG00000271402 immunoglobulin kappa variable 2/OR2-2 (pseudogene) IGKV2OR2-2 IGKV2/OR2-2 Yes No Ensembl:ENSG00000271402, GenAtlas:IGKV2OR2-2, GeneCard:IGKV2OR2-2, HGNC:HGNC:5808, NCBI Gene:28859 No chr2 +PA35389 3529 HGNC:5812 ENSG00000253460 immunoglobulin kappa variable 2/OR22-3 (pseudogene) IGKV2OR22-3 IGKV2/OR22-3 Yes No Ensembl:ENSG00000253460, GenAtlas:IGKV2OR22-3, GeneCard:IGKV2OR22-3, HGNC:HGNC:5812, NCBI Gene:3529, RefSeq DNA:NG_011670, RefSeq DNA:NT_011519 No chr22 17402214 17402827 16921324 16921937 +PA35390 28847 HGNC:5813 ENSG00000253691 immunoglobulin kappa variable 2/OR22-4 (pseudogene) IGKV2OR22-4 IGKV2/OR22-4 Yes No Ensembl:ENSG00000253691, GenAtlas:IGKV2OR22-4, GeneCard:IGKV2OR22-4, HGNC:HGNC:5813, NCBI Gene:28847, RefSeq DNA:NG_011660 No chr22 17394954 17396067 16914064 16915177 +PA35386 28858 HGNC:5809 immunoglobulin kappa variable 2/OR2-4 (pseudogene) IGKV2OR2-4 IGKV2/OR2-4 Yes No GenAtlas:IGKV2OR2-4, GeneCard:IGKV2OR2-4, HGNC:HGNC:5809, NCBI Gene:28858 No chr2 +PA35387 652873 HGNC:5810 ENSG00000270450 immunoglobulin kappa variable 2/OR2-7 (pseudogene) IGKV2OR2-7 IGKV2/OR2-7 Yes No Ensembl:ENSG00000270450, GenAtlas:IGKV2OR2-7, GeneCard:IGKV2OR2-7, HGNC:HGNC:5810, NCBI Gene:652873, RefSeq DNA:NG_011671, RefSeq DNA:NT_022171 No chr2 98000700 98001604 97372095 97372999 +PA35388 100996600 HGNC:5811 ENSG00000278537 immunoglobulin kappa variable 2/OR2-8 (pseudogene) IGKV2OR2-8 IGKV2/OR2-8 Yes No Ensembl:ENSG00000278537, GenAtlas:IGKV2OR2-8, GeneCard:IGKV2OR2-8, HGNC:HGNC:5811, NCBI Gene:100996600, RefSeq DNA:NG_011662 No chr2 98041194 98042288 97331411 97332505 +PA35391 28914 HGNC:5815 ENSG00000241351 immunoglobulin kappa variable 3-11 IGKV3-11 Yes No Ensembl:ENSG00000241351, GenAtlas:IGKV3-11, GeneCard:IGKV3-11, HGNC:HGNC:5815, NCBI Gene:28914, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89326668 89327181 89027171 89027684 +PA35392 28913 HGNC:5816 ENSG00000244437 immunoglobulin kappa variable 3-15 IGKV3-15 Yes No Ensembl:ENSG00000244437, GenAtlas:IGKV3-15, GeneCard:IGKV3-15, HGNC:HGNC:5816, NCBI Gene:28913, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89384673 89385186 89085177 89085690 +PA35393 28912 HGNC:5817 ENSG00000239951 immunoglobulin kappa variable 3-20 IGKV3-20 Yes No Ensembl:ENSG00000239951, GenAtlas:IGKV3-20, GeneCard:IGKV3-20, HGNC:HGNC:5817, NCBI Gene:28912, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89442057 89442591 89142574 89143108 +PA35394 28911 HGNC:5818 ENSG00000253202 immunoglobulin kappa variable 3-25 (pseudogene) IGKV3-25 Yes No Ensembl:ENSG00000253202, GenAtlas:IGKV3-25, GeneCard:IGKV3-25, HGNC:HGNC:5818, NCBI Gene:28911, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89491979 89493756 89192491 89194268 +PA35395 28910 HGNC:5819 ENSG00000253158 immunoglobulin kappa variable 3-31 (pseudogene) IGKV3-31 Yes No Ensembl:ENSG00000253158, GenAtlas:IGKV3-31, GeneCard:IGKV3-31, HGNC:HGNC:5819, NCBI Gene:28910, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89551684 89552221 89252198 89252735 +PA35396 28909 HGNC:5820 ENSG00000253860 immunoglobulin kappa variable 3-34 (pseudogene) IGKV3-34 Yes No Ensembl:ENSG00000253860, GenAtlas:IGKV3-34, GeneCard:IGKV3-34, HGNC:HGNC:5820, NCBI Gene:28909, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89575013 89575545 89275255 89275787 +PA35397 28915 HGNC:5821 ENSG00000243063 immunoglobulin kappa variable 3-7 (non-functional) IGKV3-7 Yes No Ensembl:ENSG00000243063, GenAtlas:IGKV3-7, GeneCard:IGKV3-7, HGNC:HGNC:5821, NCBI Gene:28915, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89277987 89278503 88978468 88978984 +PA35398 28876 HGNC:5823 ENSG00000211632 immunoglobulin kappa variable 3D-11 IGKV3D-11 Yes No Ensembl:ENSG00000211632, GenAtlas:IGKV3D-11, GeneCard:IGKV3D-11, HGNC:HGNC:5823, NCBI Gene:28876, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90211740 90212253 90172899 90173412 +PA35399 28875 HGNC:5824 ENSG00000224041 immunoglobulin kappa variable 3D-15 (gene/pseudogene) IGKV3D-15 Yes No Ensembl:ENSG00000224041, GenAtlas:IGKV3D-15, GeneCard:IGKV3D-15, HGNC:HGNC:5824, NCBI Gene:28875, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90153745 90154258 90114887 90115400 +PA35400 28874 HGNC:5825 ENSG00000211625 immunoglobulin kappa variable 3D-20 IGKV3D-20 Yes No Ensembl:ENSG00000211625, GenAtlas:IGKV3D-20, GeneCard:IGKV3D-20, HGNC:HGNC:5825, NCBI Gene:28874, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90077777 90078311 90038945 90039479 +PA35401 28873 HGNC:5826 ENSG00000254097 immunoglobulin kappa variable 3D-25 (pseudogene) IGKV3D-25 Yes No Ensembl:ENSG00000254097, GenAtlas:IGKV3D-25, GeneCard:IGKV3D-25, HGNC:HGNC:5826, NCBI Gene:28873, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90027310 90029068 89988500 89990258 +PA35402 28872 HGNC:5827 ENSG00000253999 immunoglobulin kappa variable 3D-31 (pseudogene) IGKV3D-31 Yes No Ensembl:ENSG00000253999, GenAtlas:IGKV3D-31, GeneCard:IGKV3D-31, HGNC:HGNC:5827, NCBI Gene:28872, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89968512 89969049 89929702 89930239 +PA35403 28871 HGNC:5828 ENSG00000253501 immunoglobulin kappa variable 3D-34 (pseudogene) IGKV3D-34 Yes No Ensembl:ENSG00000253501, GenAtlas:IGKV3D-34, GeneCard:IGKV3D-34, HGNC:HGNC:5828, NCBI Gene:28871, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 89945569 89946101 89906759 89907291 +PA35404 28877 HGNC:5829 ENSG00000228325 immunoglobulin kappa variable 3D-7 IGKV3D-7 Yes No Ensembl:ENSG00000228325, GenAtlas:IGKV3D-7, GeneCard:IGKV3D-7, HGNC:HGNC:5829, NCBI Gene:28877, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90273704 90274235 90234837 90235368 +PA35407 3527 HGNC:5833 ENSG00000254264 immunoglobulin kappa variable 3/OR22-2 (pseudogene) IGKV3OR22-2 IGKV3/OR22-2 Yes No Ensembl:ENSG00000254264, GenAtlas:IGKV3OR22-2, GeneCard:IGKV3OR22-2, HGNC:HGNC:5833, NCBI Gene:3527, RefSeq DNA:NG_011767, RefSeq DNA:NT_011519 No chr22 17406940 17407334 16926050 16926444 +PA35405 3523 HGNC:5830 ENSG00000233999 immunoglobulin kappa variable 3/OR2-268 (non-functional) IGKV3OR2-268 IGKV3/OR2-268, IGKV3/OR2-268A Yes No Ensembl:ENSG00000233999, GenAtlas:IGKV3OR2-268, GeneCard:IGKV3OR2-268, HGNC:HGNC:5830, NCBI Gene:3523 No chr2 +PA35406 28854 HGNC:5832 ENSG00000270252 immunoglobulin kappa variable 3/OR2-5 (pseudogene) IGKV3OR2-5 IGKV3/OR2-5 Yes No Ensembl:ENSG00000270252, GenAtlas:IGKV3OR2-5, GeneCard:IGKV3OR2-5, HGNC:HGNC:5832, NCBI Gene:28854 No chr2 +PA35408 28908 HGNC:5834 ENSG00000211598 immunoglobulin kappa variable 4-1 IGKV4-1 B3, IGKV41 Yes No Ensembl:ENSG00000211598, GenAtlas:IGKV4-1, GeneCard:IGKV4-1, HGNC:HGNC:5834, ModBase:P06312, NCBI Gene:28908, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89185088 89185669 88885572 88886153 +PA35409 28907 HGNC:5835 ENSG00000211599 immunoglobulin kappa variable 5-2 IGKV5-2 B2, IGKV52 Yes No Ensembl:ENSG00000211599, GenAtlas:IGKV5-2, GeneCard:IGKV5-2, HGNC:HGNC:5835, NCBI Gene:28907, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89196811 89197300 88897295 88897784 +PA35410 28906 HGNC:5836 ENSG00000211611 immunoglobulin kappa variable 6-21 (non-functional) IGKV6-21 A26, IGKV621 Yes No Ensembl:ENSG00000211611, GenAtlas:IGKV6-21, GeneCard:IGKV6-21, HGNC:HGNC:5836, NCBI Gene:28906, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89459235 89459786 89159751 89160302 +PA35411 28870 HGNC:5837 ENSG00000225523 immunoglobulin kappa variable 6D-21 (non-functional) IGKV6D-21 A10, IGKV6D21 Yes No Ensembl:ENSG00000225523, GenAtlas:IGKV6D-21, GeneCard:IGKV6D-21, HGNC:HGNC:5837, NCBI Gene:28870, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90060444 90060995 90021634 90022185 +PA35412 28869 HGNC:5838 ENSG00000211626 immunoglobulin kappa variable 6D-41 (non-functional) IGKV6D-41 Yes No Ensembl:ENSG00000211626, GenAtlas:IGKV6D-41, GeneCard:IGKV6D-41, HGNC:HGNC:5838, NCBI Gene:28869, RefSeq DNA:NG_000833, RefSeq DNA:NT_032994 No chr2 90108530 90109082 90069688 90070240 +PA35413 28905 HGNC:5839 ENSG00000197794 immunoglobulin kappa variable 7-3 (pseudogene) IGKV7-3 Yes No Ensembl:ENSG00000197794, GenAtlas:IGKV7-3, GeneCard:IGKV7-3, HGNC:HGNC:5839, NCBI Gene:28905, RefSeq DNA:NG_000834, RefSeq DNA:NT_022184 No chr2 89214596 89215194 88915080 88915678 +PA35415 3535 HGNC:5853 immunoglobulin lambda locus IGL IGL@ Yes No GenAtlas:IGL@, GeneCard:IGL@, HGNC:HGNC:5853, NCBI Gene:3535, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22380474 23265085 22026076 22922913 +PA35416 3536 HGNC:5854 immunoglobulin lambda constant group IGLC@ Yes No GenAtlas:IGLC@, GeneCard:IGLC@, HGNC:HGNC:5854, NCBI Gene:3536 No chr22 +PA29742 3537 HGNC:5855 ENSG00000211675 immunoglobulin lambda constant 1 (Mcg marker) IGLC1 Yes No Ensembl:ENSG00000211675, GenAtlas:IGLC1, GeneCard:IGLC1, HGNC:HGNC:5855, NCBI Gene:3537, OMIM:147220, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23237555 23237874 22895375 22895694 +PA29743 3538 HGNC:5856 ENSG00000211677 immunoglobulin lambda constant 2 (Kern-Oz- marker) IGLC2 Yes No Ensembl:ENSG00000211677, GenAtlas:IGLC2, GeneCard:IGLC2, HGNC:HGNC:5856, NCBI Gene:3538, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23243156 23243475 22900976 22901295 +PA29744 3539 HGNC:5857 ENSG00000211679 immunoglobulin lambda constant 3 (Kern-Oz+ marker) IGLC3 Yes No Ensembl:ENSG00000211679, GenAtlas:IGLC3, GeneCard:IGLC3, HGNC:HGNC:5857, NCBI Gene:3539, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23248512 23248831 22906342 22906661 +PA29745 3540 HGNC:5858 ENSG00000254029 immunoglobulin lambda constant 4 (pseudogene) IGLC4 Yes No Ensembl:ENSG00000254029, GenAtlas:IGLC4, GeneCard:IGLC4, HGNC:HGNC:5858, NCBI Gene:3540, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23252998 23253250 22910828 22911080 +PA29746 3541 HGNC:5859 ENSG00000254030 immunoglobulin lambda constant 5 (pseudogene) IGLC5 Yes No Ensembl:ENSG00000254030, GenAtlas:IGLC5, GeneCard:IGLC5, HGNC:HGNC:5859, NCBI Gene:3541, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23257794 23258102 22915624 22915932 +PA29747 3542 HGNC:5860 ENSG00000222037 immunoglobulin lambda constant 6 (Kern+Oz- marker, gene/pseudogene) IGLC6 Yes No Ensembl:ENSG00000222037, GenAtlas:IGLC6, GeneCard:IGLC6, HGNC:HGNC:5860, NCBI Gene:3542, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23261707 23262030 22919535 22919858 +PA29748 28834 HGNC:5861 ENSG00000211685 immunoglobulin lambda constant 7 IGLC7 Yes No Ensembl:ENSG00000211685, GenAtlas:IGLC7, GeneCard:IGLC7, HGNC:HGNC:5861, NCBI Gene:28834, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23264766 23265085 22922594 22922913 +PA38027 84096 HGNC:15696 ENSG00000254127 immunoglobulin lambda constant/OR22-1 (pseudogene) IGLCOR22-1 IGLC/OR22-1 Yes No Ensembl:ENSG00000254127, GenAtlas:IGLCOR22-1, GeneCard:IGLCOR22-1, HGNC:HGNC:15696, NCBI Gene:84096 No chr22 +PA38028 84086 HGNC:15697 ENSG00000271093 immunoglobulin lambda constant/OR22-2 (pseudogene) IGLCOR22-2 IGLC/OR22-2 Yes No Ensembl:ENSG00000271093, GenAtlas:IGLCOR22-2, GeneCard:IGLCOR22-2, HGNC:HGNC:15697, NCBI Gene:84086 No chr22 +PA35417 8217 HGNC:5862 immunoglobulin lambda joining group IGLJ@ Yes No GenAtlas:IGLJ@, GeneCard:IGLJ@, HGNC:HGNC:5862, NCBI Gene:8217, OMIM:147230 No chr22 +PA29749 28833 HGNC:5863 ENSG00000211674 immunoglobulin lambda joining 1 IGLJ1 Yes No Ensembl:ENSG00000211674, GenAtlas:IGLJ1, GeneCard:IGLJ1, HGNC:HGNC:5863, NCBI Gene:28833, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23235961 23235998 22893781 22893818 +PA29750 28832 HGNC:5864 ENSG00000211676 immunoglobulin lambda joining 2 IGLJ2 Yes No Ensembl:ENSG00000211676, GenAtlas:IGLJ2, GeneCard:IGLJ2, HGNC:HGNC:5864, NCBI Gene:28832, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23241798 23241835 22899618 22899655 +PA29751 28831 HGNC:5865 ENSG00000211678 immunoglobulin lambda joining 3 IGLJ3 Yes No Comparative Toxicogenomics Database:28831, Ensembl:ENSG00000211678, GenAtlas:IGLJ3, GeneCard:IGLJ3, HGNC:HGNC:5865, NCBI Gene:28831, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520, UCSC Genome Browser:NM_016934 No chr22 23247168 23247205 22904988 22905025 +PA29752 28830 HGNC:5866 ENSG00000211680 immunoglobulin lambda joining 4 (non-functional) IGLJ4 Yes No Ensembl:ENSG00000211680, GenAtlas:IGLJ4, GeneCard:IGLJ4, HGNC:HGNC:5866, NCBI Gene:28830, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23252740 23252777 22910570 22910607 +PA29753 28829 HGNC:5867 ENSG00000211681 immunoglobulin lambda joining 5 (non-functional) IGLJ5 Yes No Ensembl:ENSG00000211681, GenAtlas:IGLJ5, GeneCard:IGLJ5, HGNC:HGNC:5867, NCBI Gene:28829, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23256443 23256480 22914272 22914309 +PA29754 28828 HGNC:5868 ENSG00000211682 immunoglobulin lambda joining 6 IGLJ6 Yes No Ensembl:ENSG00000211682, GenAtlas:IGLJ6, GeneCard:IGLJ6, HGNC:HGNC:5868, NCBI Gene:28828, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23260336 23260373 22918164 22918201 +PA29755 28827 HGNC:5869 ENSG00000211684 immunoglobulin lambda joining 7 IGLJ7 Yes No Ensembl:ENSG00000211684, GenAtlas:IGLJ7, GeneCard:IGLJ7, HGNC:HGNC:5869, NCBI Gene:28827, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23263570 23263607 22921398 22921435 +PA134960193 204777 HGNC:28614 ENSG00000265243 immunoglobulin lambda joining-constant/OR18 (pseudogene) IGLJCOR18 IGLJ-C/OR18, IGLJ-COR18 Yes No Ensembl:ENSG00000265243, GeneCard:IGLJCOR18, HGNC:HGNC:28614, NCBI Gene:204777, RefSeq DNA:NG_004787, RefSeq DNA:NT_010859 No chr18 3394884 3395315 3394886 3395317 +PA29756 3543 HGNC:5870 ENSG00000128322 immunoglobulin lambda like polypeptide 1 IGLL1 immunoglobulin lambda-like polypeptide 1, lambda 5 14.1, CD179B, IGL5, IGLL, IGVPB Yes No Comparative Toxicogenomics Database:3543, Ensembl:ENSG00000128322, GenAtlas:IGLL1, GeneCard:IGLL1, HGNC:HGNC:5870, HumanCyc Gene:HS05181, ModBase:P15814, NCBI Gene:3543, OMIM:146770, OMIM:601495, RefSeq DNA:NG_009791, RefSeq DNA:NT_011520, RefSeq Protein:NP_064455, RefSeq Protein:NP_690594, RefSeq RNA:NM_020070, RefSeq RNA:NM_152855, UCSC Genome Browser:NM_020070, UniProtKB:P15814, UniProtKB:Q0P681 No chr22 23915312 23922619 23573125 23580548 +PA29757 3544 HGNC:5871 immunoglobulin lambda-like polypeptide 2, pseudogene IGLL2P 16.2, FLAMBDA1, IGLL1P Yes No GenAtlas:IGLL2, GeneCard:IGLL2P, HGNC:HGNC:5871, NCBI Gene:3544, RefSeq DNA:NG_016464 No chr22 +PA29758 91353 HGNC:5872 ENSG00000206066 immunoglobulin lambda-like polypeptide 3, pseudogene IGLL3P 16.1 Yes No Ensembl:ENSG00000206066, GenAtlas:IGLL3, GeneCard:IGLL3P, HGNC:HGNC:5872, NCBI Gene:91353, RefSeq DNA:NT_011520, RefSeq Protein:NP_001013640, RefSeq RNA:NM_001013618, RefSeq RNA:NR_029395 No chr22 25714224 25716194 25318257 25320227 +PA165378341 100423062 HGNC:38476 ENSG00000254709 immunoglobulin lambda like polypeptide 5 IGLL5 immunoglobulin lambda-like polypeptide 5 Yes No Ensembl:ENSG00000254709, HGNC:HGNC:38476, NCBI Gene:100423062, RefSeq DNA:NG_000002, RefSeq Protein:NP_001171597, RefSeq RNA:NM_001178126, RefSeq RNA:NR_033661 No chr22 23229960 23238014 22887780 22895834 +PA164720915 402665 HGNC:34550 ENSG00000142549 IgLON family member 5 IGLON5 LOC402665 Yes No Ensembl:ENSG00000142549, GeneCard:IGLON5, HGNC:HGNC:34550, NCBI Gene:402665, RefSeq DNA:NT_011109, RefSeq DNA:NT_079593, RefSeq Protein:NP_001094842, RefSeq RNA:NM_001101372, UniProtKB:A6NGN9 No chr19 51815102 51834102 51311848 51330848 +PA35418 3546 HGNC:5875 immunoglobulin lambda variable group IGLV@ Yes No GenAtlas:IGLV@, GeneCard:IGLV@, HGNC:HGNC:5875, NCBI Gene:3546, OMIM:147240 No chr22 +PA35427 28772 HGNC:5884 ENSG00000211642 immunoglobulin lambda variable 10-54 IGLV10-54 Yes No Ensembl:ENSG00000211642, GenAtlas:IGLV10-54, GeneCard:IGLV10-54, HGNC:HGNC:5884, NCBI Gene:28772, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22569197 22569661 22214807 22215271 +PA35428 28771 HGNC:5885 ENSG00000253794 immunoglobulin lambda variable 10-67 (pseudogene) IGLV10-67 Yes No Ensembl:ENSG00000253794, GenAtlas:IGLV10-67, GeneCard:IGLV10-67, HGNC:HGNC:5885, NCBI Gene:28771, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22397850 22398312 22043452 22043914 +PA35429 28770 HGNC:5886 ENSG00000211641 immunoglobulin lambda variable 11-55 (non-functional) IGLV11-55 Yes No Ensembl:ENSG00000211641, GenAtlas:IGLV11-55, GeneCard:IGLV11-55, HGNC:HGNC:5886, NCBI Gene:28770, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22556069 22556555 22201675 22202161 +PA35419 28826 HGNC:5876 ENSG00000211655 immunoglobulin lambda variable 1-36 IGLV1-36 Yes No Ensembl:ENSG00000211655, GenAtlas:IGLV1-36, GeneCard:IGLV1-36, HGNC:HGNC:5876, NCBI Gene:28826, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22786336 22786803 22431998 22432465 +PA35420 28825 HGNC:5877 ENSG00000211653 immunoglobulin lambda variable 1-40 IGLV1-40 Yes No Ensembl:ENSG00000211653, GenAtlas:IGLV1-40, GeneCard:IGLV1-40, HGNC:HGNC:5877, NCBI Gene:28825, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22764149 22764614 22409817 22410282 +PA35421 28824 HGNC:5878 ENSG00000253818 immunoglobulin lambda variable 1-41 (pseudogene) IGLV1-41 Yes No Ensembl:ENSG00000253818, GenAtlas:IGLV1-41, GeneCard:IGLV1-41, HGNC:HGNC:5878, NCBI Gene:28824, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22758592 22759053 22404260 22404721 +PA35422 28823 HGNC:5879 ENSG00000211651 immunoglobulin lambda variable 1-44 IGLV1-44 Yes No Comparative Toxicogenomics Database:28823, Ensembl:ENSG00000211651, GenAtlas:IGLV1-44, GeneCard:IGLV1-44, HGNC:HGNC:5879, NCBI Gene:28823, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22735249 22735716 22380880 22381347 +PA35423 28822 HGNC:5880 ENSG00000211648 immunoglobulin lambda variable 1-47 IGLV1-47 Yes No Ensembl:ENSG00000211648, GenAtlas:IGLV1-47, GeneCard:IGLV1-47, HGNC:HGNC:5880, NCBI Gene:28822, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22712143 22712610 22357795 22358262 +PA35424 28821 HGNC:5881 ENSG00000211645 immunoglobulin lambda variable 1-50 (non-functional) IGLV1-50 Yes No Ensembl:ENSG00000211645, GenAtlas:IGLV1-50, GeneCard:IGLV1-50, HGNC:HGNC:5881, NCBI Gene:28821, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22681709 22682174 22327351 22327816 +PA35425 28820 HGNC:5882 ENSG00000211644 immunoglobulin lambda variable 1-51 IGLV1-51 Yes No Ensembl:ENSG00000211644, GenAtlas:IGLV1-51, GeneCard:IGLV1-51, HGNC:HGNC:5882, NCBI Gene:28820, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22676864 22677325 22322508 22322969 +PA35426 28819 HGNC:5883 ENSG00000253823 immunoglobulin lambda variable 1-62 (pseudogene) IGLV1-62 Yes No Ensembl:ENSG00000253823, GenAtlas:IGLV1-62, GeneCard:IGLV1-62, HGNC:HGNC:5883, NCBI Gene:28819, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22441127 22441435 22086716 22087024 +PA35430 28816 HGNC:5887 ENSG00000211668 immunoglobulin lambda variable 2-11 IGLV2-11 Yes No Ensembl:ENSG00000211668, GenAtlas:IGLV2-11, GeneCard:IGLV2-11, HGNC:HGNC:5887, NCBI Gene:28816, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23135022 23135492 22792533 22793003 +PA35431 28815 HGNC:5888 ENSG00000211666 immunoglobulin lambda variable 2-14 IGLV2-14 Yes No Ensembl:ENSG00000211666, GenAtlas:IGLV2-14, GeneCard:IGLV2-14, HGNC:HGNC:5888, NCBI Gene:28815, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23101230 23101700 22758741 22759211 +PA35432 28814 HGNC:5889 ENSG00000211664 immunoglobulin lambda variable 2-18 IGLV2-18 Yes No Ensembl:ENSG00000211664, GenAtlas:IGLV2-18, GeneCard:IGLV2-18, HGNC:HGNC:5889, NCBI Gene:28814, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23077108 23077577 22734620 22735089 +PA35433 28813 HGNC:5890 ENSG00000211660 immunoglobulin lambda variable 2-23 IGLV2-23 Yes No Ensembl:ENSG00000211660, GenAtlas:IGLV2-23, GeneCard:IGLV2-23, HGNC:HGNC:5890, NCBI Gene:28813, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23040436 23040906 22697951 22698421 +PA35434 28812 HGNC:5891 ENSG00000253451 immunoglobulin lambda variable 2-28 (pseudogene) IGLV2-28 Yes No Ensembl:ENSG00000253451, GenAtlas:IGLV2-28, GeneCard:IGLV2-28, HGNC:HGNC:5891, NCBI Gene:28812, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23006943 23007401 22664473 22664931 +PA35435 28811 HGNC:5892 ENSG00000211656 immunoglobulin lambda variable 2-33 (non-functional) IGLV2-33 Yes No Ensembl:ENSG00000211656, GenAtlas:IGLV2-33, GeneCard:IGLV2-33, HGNC:HGNC:5892, NCBI Gene:28811, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22930684 22931159 22588213 22588688 +PA35436 28810 HGNC:5893 ENSG00000253120 immunoglobulin lambda variable 2-34 (pseudogene) IGLV2-34 Yes No Ensembl:ENSG00000253120, GenAtlas:IGLV2-34, GeneCard:IGLV2-34, HGNC:HGNC:5893, NCBI Gene:28810, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22922306 22922776 22579842 22580312 +PA35437 28818 HGNC:5894 ENSG00000253234 immunoglobulin lambda variable 2-5 (pseudogene) IGLV2-5 Yes No Ensembl:ENSG00000253234, GenAtlas:IGLV2-5, GeneCard:IGLV2-5, HGNC:HGNC:5894, NCBI Gene:28818, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23198765 23199235 22856590 22857060 +PA35438 28817 HGNC:5895 ENSG00000278196 immunoglobulin lambda variable 2-8 IGLV2-8 Yes No Ensembl:ENSG00000278196, GenAtlas:IGLV2-8, GeneCard:IGLV2-8, HGNC:HGNC:5895, NCBI Gene:28817, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23165315 23165783 22822821 22823289 +PA35439 28809 HGNC:5896 ENSG00000211673 immunoglobulin lambda variable 3-1 IGLV3-1 Yes No Ensembl:ENSG00000211673, GenAtlas:IGLV3-1, GeneCard:IGLV3-1, HGNC:HGNC:5896, NCBI Gene:28809, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23223092 23223572 22880912 22881392 +PA35440 28803 HGNC:5897 ENSG00000211669 immunoglobulin lambda variable 3-10 IGLV3-10 Yes No Ensembl:ENSG00000211669, GenAtlas:IGLV3-10, GeneCard:IGLV3-10, HGNC:HGNC:5897, NCBI Gene:28803, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23154279 23154778 22811782 22812281 +PA35441 28802 HGNC:5898 ENSG00000211667 immunoglobulin lambda variable 3-12 IGLV3-12 Yes No Ensembl:ENSG00000211667, GenAtlas:IGLV3-12, GeneCard:IGLV3-12, HGNC:HGNC:5898, NCBI Gene:28802, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23114326 23115075 22771833 22772582 +PA35442 28801 HGNC:5899 ENSG00000253590 immunoglobulin lambda variable 3-13 (pseudogene) IGLV3-13 Yes No Ensembl:ENSG00000253590, GenAtlas:IGLV3-13, GeneCard:IGLV3-13, HGNC:HGNC:5899, NCBI Gene:28801, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23104572 23105067 22762079 22762574 +PA35443 28800 HGNC:5900 ENSG00000253786 immunoglobulin lambda variable 3-15 (pseudogene) IGLV3-15 Yes No Ensembl:ENSG00000253786, GenAtlas:IGLV3-15, GeneCard:IGLV3-15, HGNC:HGNC:5900, NCBI Gene:28800, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23098042 23098326 22755553 22755837 +PA35444 28799 HGNC:5901 ENSG00000211665 immunoglobulin lambda variable 3-16 IGLV3-16 Yes No Ensembl:ENSG00000211665, GenAtlas:IGLV3-16, GeneCard:IGLV3-16, HGNC:HGNC:5901, NCBI Gene:28799, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23089908 23090408 22747421 22747921 +PA35445 28798 HGNC:5902 ENSG00000253152 immunoglobulin lambda variable 3-17 (pseudogene) IGLV3-17 Yes No Ensembl:ENSG00000253152, GenAtlas:IGLV3-17, GeneCard:IGLV3-17, HGNC:HGNC:5902, NCBI Gene:28798, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23081399 23081679 22738911 22739191 +PA35446 28797 HGNC:5903 ENSG00000211663 immunoglobulin lambda variable 3-19 IGLV3-19 Yes No Ensembl:ENSG00000211663, GenAtlas:IGLV3-19, GeneCard:IGLV3-19, HGNC:HGNC:5903, NCBI Gene:28797, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23063148 23063640 22720663 22721155 +PA35447 28808 HGNC:5904 ENSG00000253963 immunoglobulin lambda variable 3-2 (pseudogene) IGLV3-2 Yes No Ensembl:ENSG00000253963, GenAtlas:IGLV3-2, GeneCard:IGLV3-2, HGNC:HGNC:5904, NCBI Gene:28808, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23215187 23215672 22873008 22873493 +PA35448 28796 HGNC:5905 ENSG00000211662 immunoglobulin lambda variable 3-21 IGLV3-21 Yes No Ensembl:ENSG00000211662, GenAtlas:IGLV3-21, GeneCard:IGLV3-21, HGNC:HGNC:5905, NCBI Gene:28796, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23054904 23055684 22712419 22713199 +PA35449 28795 HGNC:5906 ENSG00000211661 immunoglobulin lambda variable 3-22 (gene/pseudogene) IGLV3-22 Yes No Ensembl:ENSG00000211661, GenAtlas:IGLV3-22, GeneCard:IGLV3-22, HGNC:HGNC:5906, NCBI Gene:28795, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23046814 23047303 22704329 22704818 +PA35450 28794 HGNC:5907 ENSG00000253822 immunoglobulin lambda variable 3-24 (pseudogene) IGLV3-24 Yes No Ensembl:ENSG00000253822, GenAtlas:IGLV3-24, GeneCard:IGLV3-24, HGNC:HGNC:5907, NCBI Gene:28794, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23037261 23037555 22694776 22695070 +PA35451 28793 HGNC:5908 ENSG00000211659 immunoglobulin lambda variable 3-25 IGLV3-25 Yes No Ensembl:ENSG00000211659, GenAtlas:IGLV3-25, GeneCard:IGLV3-25, HGNC:HGNC:5908, NCBI Gene:28793, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23029233 23029745 22686769 22687281 +PA35452 28792 HGNC:5909 ENSG00000253913 immunoglobulin lambda variable 3-26 (pseudogene) IGLV3-26 Yes No Ensembl:ENSG00000253913, GenAtlas:IGLV3-26, GeneCard:IGLV3-26, HGNC:HGNC:5909, NCBI Gene:28792, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23015808 23016107 22673338 22673637 +PA35453 28791 HGNC:5910 ENSG00000211658 immunoglobulin lambda variable 3-27 IGLV3-27 Yes No Ensembl:ENSG00000211658, GenAtlas:IGLV3-27, GeneCard:IGLV3-27, HGNC:HGNC:5910, NCBI Gene:28791, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23010796 23011278 22668326 22668808 +PA35454 28790 HGNC:5911 ENSG00000253338 immunoglobulin lambda variable 3-29 (pseudogene) IGLV3-29 Yes No Ensembl:ENSG00000253338, GenAtlas:IGLV3-29, GeneCard:IGLV3-29, HGNC:HGNC:5911, NCBI Gene:28790, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23003419 23004047 22660949 22661577 +PA35455 28789 HGNC:5912 ENSG00000253329 immunoglobulin lambda variable 3-30 (pseudogene) IGLV3-30 Yes No Ensembl:ENSG00000253329, GenAtlas:IGLV3-30, GeneCard:IGLV3-30, HGNC:HGNC:5912, NCBI Gene:28789, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22961188 22961681 22618718 22619211 +PA35456 28788 HGNC:5913 ENSG00000253920 immunoglobulin lambda variable 3-31 (pseudogene) IGLV3-31 Yes No Ensembl:ENSG00000253920, GenAtlas:IGLV3-31, GeneCard:IGLV3-31, HGNC:HGNC:5913, NCBI Gene:28788, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22947163 22947655 22604693 22605185 +PA35457 28787 HGNC:5914 ENSG00000211657 immunoglobulin lambda variable 3-32 (non-functional) IGLV3-32 Yes No Ensembl:ENSG00000211657, GenAtlas:IGLV3-32, GeneCard:IGLV3-32, HGNC:HGNC:5914, NCBI Gene:28787, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22937037 22937526 22594567 22595056 +PA35458 28807 HGNC:5915 ENSG00000226420 immunoglobulin lambda variable 3-4 (pseudogene) IGLV3-4 Yes No Ensembl:ENSG00000226420, GenAtlas:IGLV3-4, GeneCard:IGLV3-4, HGNC:HGNC:5915, NCBI Gene:28807, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23199996 23200477 22857821 22858302 +PA35459 28806 HGNC:5916 ENSG00000253448 immunoglobulin lambda variable 3-6 (pseudogene) IGLV3-6 Yes No Ensembl:ENSG00000253448, GenAtlas:IGLV3-6, GeneCard:IGLV3-6, HGNC:HGNC:5916, NCBI Gene:28806, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23192548 23192831 22850373 22850656 +PA35460 28805 HGNC:5917 ENSG00000254077 immunoglobulin lambda variable 3-7 (pseudogene) IGLV3-7 Yes No Ensembl:ENSG00000254077, GenAtlas:IGLV3-7, GeneCard:IGLV3-7, HGNC:HGNC:5917, NCBI Gene:28805, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23180767 23181065 22838590 22838888 +PA35461 28804 HGNC:5918 ENSG00000211670 immunoglobulin lambda variable 3-9 (gene/pseudogene) IGLV3-9 Yes No Ensembl:ENSG00000211670, GenAtlas:IGLV3-9, GeneCard:IGLV3-9, HGNC:HGNC:5918, NCBI Gene:28804, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23161622 23162249 22819125 22819752 +PA35462 28786 HGNC:5919 ENSG00000211672 immunoglobulin lambda variable 4-3 IGLV4-3 Yes No Ensembl:ENSG00000211672, GenAtlas:IGLV4-3, GeneCard:IGLV4-3, HGNC:HGNC:5919, NCBI Gene:28786, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23213718 23214214 22871539 22872035 +PA35463 28785 HGNC:5920 ENSG00000211639 immunoglobulin lambda variable 4-60 IGLV4-60 Yes No Ensembl:ENSG00000211639, GenAtlas:IGLV4-60, GeneCard:IGLV4-60, HGNC:HGNC:5920, NCBI Gene:28785, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22516591 22517074 22162198 22162681 +PA35464 28784 HGNC:5921 ENSG00000211637 immunoglobulin lambda variable 4-69 IGLV4-69 Yes No Ensembl:ENSG00000211637, GenAtlas:IGLV4-69, GeneCard:IGLV4-69, HGNC:HGNC:5921, NCBI Gene:28784, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22385392 22385870 22030994 22031472 +PA35465 28783 HGNC:5922 ENSG00000211654 immunoglobulin lambda variable 5-37 IGLV5-37 Yes No Ensembl:ENSG00000211654, GenAtlas:IGLV5-37, GeneCard:IGLV5-37, HGNC:HGNC:5922, NCBI Gene:28783, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22781881 22782371 22427545 22428035 +PA35466 28782 HGNC:5923 immunoglobulin lambda variable 5-39 IGLV5-39 Yes No GenAtlas:IGLV5-39, GeneCard:IGLV5-39, HGNC:HGNC:5923, NCBI Gene:28782 No chr22 +PA35467 28781 HGNC:5924 ENSG00000211650 immunoglobulin lambda variable 5-45 IGLV5-45 Yes No Ensembl:ENSG00000211650, GenAtlas:IGLV5-45, GeneCard:IGLV5-45, HGNC:HGNC:5924, NCBI Gene:28781, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22730383 22730874 22376014 22376505 +PA35468 28780 HGNC:5925 ENSG00000211647 immunoglobulin lambda variable 5-48 (non-functional) IGLV5-48 Yes No Ensembl:ENSG00000211647, GenAtlas:IGLV5-48, GeneCard:IGLV5-48, HGNC:HGNC:5925, NCBI Gene:28780, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22707289 22707781 22352940 22353433 +PA35469 28779 HGNC:5926 ENSG00000211643 immunoglobulin lambda variable 5-52 IGLV5-52 Yes No Ensembl:ENSG00000211643, GenAtlas:IGLV5-52, GeneCard:IGLV5-52, HGNC:HGNC:5926, NCBI Gene:28779, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22673021 22673581 22318666 22319226 +PA35470 28778 HGNC:5927 ENSG00000211640 immunoglobulin lambda variable 6-57 IGLV6-57 Yes No Ensembl:ENSG00000211640, GenAtlas:IGLV6-57, GeneCard:IGLV6-57, HGNC:HGNC:5927, NCBI Gene:28778, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22550199 22550676 22195799 22196276 +PA35471 28777 HGNC:5928 ENSG00000253631 immunoglobulin lambda variable 7-35 (pseudogene) IGLV7-35 Yes No Ensembl:ENSG00000253631, GenAtlas:IGLV7-35, GeneCard:IGLV7-35, HGNC:HGNC:5928, NCBI Gene:28777, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22804696 22804990 22450358 22450652 +PA35476 28776 HGNC:5929 ENSG00000211652 immunoglobulin lambda variable 7-43 IGLV7-43 Yes No Ensembl:ENSG00000211652, GenAtlas:IGLV7-43, GeneCard:IGLV7-43, HGNC:HGNC:5929, NCBI Gene:28776, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22749390 22749827 22395052 22395489 +PA35472 28775 HGNC:5930 ENSG00000211649 immunoglobulin lambda variable 7-46 (gene/pseudogene) IGLV7-46 Yes No Ensembl:ENSG00000211649, GenAtlas:IGLV7-46, GeneCard:IGLV7-46, HGNC:HGNC:5930, NCBI Gene:28775, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22724016 22724455 22369648 22370087 +PA35473 28774 HGNC:5931 ENSG00000211638 immunoglobulin lambda variable 8-61 IGLV8-61 Yes No Ensembl:ENSG00000211638, GenAtlas:IGLV8-61, GeneCard:IGLV8-61, HGNC:HGNC:5931, NCBI Gene:28774, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22453171 22453622 22098761 22099212 +PA35474 100996586 HGNC:5932 ENSG00000215177 immunoglobulin lambda variable 8/OR8-1 (pseudogene) IGLV8OR8-1 IGLV8/OR8-1 Yes No Ensembl:ENSG00000215177, GenAtlas:IGLV8OR8-1, GeneCard:IGLV8OR8-1, HGNC:HGNC:5932, NCBI Gene:100996586 No chr8 48114054 48114520 47202431 47202906 +PA35475 28773 HGNC:5933 ENSG00000223350 immunoglobulin lambda variable 9-49 IGLV9-49 Yes No Ensembl:ENSG00000223350, GenAtlas:IGLV9-49, GeneCard:IGLV9-49, HGNC:HGNC:5933, NCBI Gene:28773, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22697576 22698086 22343224 22343734 +PA35477 28769 HGNC:5934 ENSG00000254240 immunoglobulin lambda variable (I)-20 (pseudogene) IGLVI-20 IGLV(I)-20 Yes No Ensembl:ENSG00000254240, GenAtlas:IGLVI-20, GeneCard:IGLVI-20, HGNC:HGNC:5934, NCBI Gene:28769, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23057643 23057928 22715158 22715443 +PA35478 28768 HGNC:5935 ENSG00000253889 immunoglobulin lambda variable (I)-38 (pseudogene) IGLVI-38 IGLV(I)-38 Yes No Ensembl:ENSG00000253889, GenAtlas:IGLVI-38, GeneCard:IGLVI-38, HGNC:HGNC:5935, NCBI Gene:28768, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22780325 22780615 22425988 22426278 +PA35479 28767 HGNC:5936 ENSG00000254175 immunoglobulin lambda variable (I)-42 (pseudogene) IGLVI-42 IGLV(I)-42 Yes No Ensembl:ENSG00000254175, GenAtlas:IGLVI-42, GeneCard:IGLVI-42, HGNC:HGNC:5936, NCBI Gene:28767, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22751369 22751827 22397032 22397490 +PA35480 28766 HGNC:5937 ENSG00000253126 immunoglobulin lambda variable (I)-56 (pseudogene) IGLVI-56 IGLV(I)-56 Yes No Ensembl:ENSG00000253126, GenAtlas:IGLVI-56, GeneCard:IGLVI-56, HGNC:HGNC:5937, NCBI Gene:28766, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22553124 22553419 22198724 22199019 +PA35481 28765 HGNC:5938 ENSG00000253752 immunoglobulin lambda variable (I)-63 (pseudogene) IGLVI-63 IGLV(I)-63 Yes No Ensembl:ENSG00000253752, GenAtlas:IGLVI-63, GeneCard:IGLVI-63, HGNC:HGNC:5938, NCBI Gene:28765, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22434180 22434643 22079770 22080233 +PA35482 28764 HGNC:5939 ENSG00000254355 immunoglobulin lambda variable (I)-68 (pseudogene) IGLVI-68 IGLV(I)-68 Yes No Ensembl:ENSG00000254355, GenAtlas:IGLVI-68, GeneCard:IGLVI-68, HGNC:HGNC:5939, NCBI Gene:28764, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22387300 22387603 22032902 22033205 +PA35483 28763 HGNC:5940 ENSG00000253239 immunoglobulin lambda variable (I)-70 (pseudogene) IGLVI-70 IGLV(I)-70 Yes No Ensembl:ENSG00000253239, GenAtlas:IGLVI-70, GeneCard:IGLVI-70, HGNC:HGNC:5940, NCBI Gene:28763, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22380474 22380951 22026076 22026553 +PA35484 28762 HGNC:5941 ENSG00000253935 immunoglobulin lambda variable (IV)-53 (pseudogene) IGLVIV-53 IGLV(IV)-53 Yes No Ensembl:ENSG00000253935, GenAtlas:IGLVIV-53, GeneCard:IGLVIV-53, HGNC:HGNC:5941, NCBI Gene:28762, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22574039 22574525 22219647 22220133 +PA35485 28761 HGNC:5942 ENSG00000254308 immunoglobulin lambda variable (IV)-59 (pseudogene) IGLVIV-59 IGLV(IV)-59 Yes No Ensembl:ENSG00000254308, GenAtlas:IGLVIV-59, GeneCard:IGLVIV-59, HGNC:HGNC:5942, NCBI Gene:28761, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22533555 22533878 22179165 22179488 +PA35486 28760 HGNC:5943 ENSG00000253242 immunoglobulin lambda variable (IV)-64 (pseudogene) IGLVIV-64 IGLV(IV)-64 Yes No Ensembl:ENSG00000253242, GenAtlas:IGLVIV-64, GeneCard:IGLVIV-64, HGNC:HGNC:5943, NCBI Gene:28760, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22429597 22430093 22075186 22075682 +PA35487 28759 HGNC:5944 ENSG00000254161 immunoglobulin lambda variable (IV)-65 (pseudogene) IGLVIV-65 IGLV(IV)-65 Yes No Ensembl:ENSG00000254161, GenAtlas:IGLVIV-65, GeneCard:IGLVIV-65, HGNC:HGNC:5944, NCBI Gene:28759, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22424636 22425122 22070225 22070711 +PA38024 84097 HGNC:15692 ENSG00000253874 immunoglobulin lambda variable (IV)-66-1 (pseudogene) IGLVIV-66-1 IGLV(IV)-66-1 Yes No Ensembl:ENSG00000253874, GenAtlas:IGLVIV-66-1, GeneCard:IGLVIV-66-1, HGNC:HGNC:15692, NCBI Gene:84097, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22412891 22413217 22058479 22058805 +PA38025 84088 HGNC:15694 ENSG00000271138 immunoglobulin lambda variable (IV)/OR22-1 (pseudogene) IGLVIVOR22-1 IGLV(IV)/OR22-1 Yes No Ensembl:ENSG00000271138, GenAtlas:IGLVIVOR22-1, GeneCard:IGLVIVOR22-1, HGNC:HGNC:15694, NCBI Gene:84088 No chr22 +PA38026 84087 HGNC:15695 ENSG00000243519 immunoglobulin lambda variable (IV)/OR22-2 (pseudogene) IGLVIVOR22-2 IGLV(IV)/OR22-2 Yes No Ensembl:ENSG00000243519, GenAtlas:IGLVIVOR22-2, GeneCard:IGLVIVOR22-2, HGNC:HGNC:15695, NCBI Gene:84087 No chr22 +PA35488 28758 HGNC:5945 ENSG00000253637 immunoglobulin lambda variable (V)-58 (pseudogene) IGLVV-58 IGLV(V)-58 Yes No Ensembl:ENSG00000253637, GenAtlas:IGLVV-58, GeneCard:IGLVV-58, HGNC:HGNC:5945, NCBI Gene:28758, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22536973 22537280 22182583 22182890 +PA35489 28757 HGNC:5946 ENSG00000254075 immunoglobulin lambda variable (V)-66 (pseudogene) IGLVV-66 IGLV(V)-66 Yes No Ensembl:ENSG00000254075, GenAtlas:IGLVV-66, GeneCard:IGLVV-66, HGNC:HGNC:5946, NCBI Gene:28757, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22415658 22415969 22061246 22061557 +PA38021 84091 HGNC:15689 ENSG00000253546 immunoglobulin lambda variable (VI)-22-1 (pseudogene) IGLVVI-22-1 IGLV(VI)-22-1 Yes No Ensembl:ENSG00000253546, GenAtlas:IGLVVI-22-1, GeneCard:IGLVVI-22-1, HGNC:HGNC:15689, NCBI Gene:84091, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23043237 23043526 22700752 22701041 +PA38022 84090 HGNC:15690 ENSG00000253779 immunoglobulin lambda variable (VI)-25-1 (pseudogene) IGLVVI-25-1 IGLV(VI)-25-1 Yes No Ensembl:ENSG00000253779, GenAtlas:IGLVVI-25-1, GeneCard:IGLVVI-25-1, HGNC:HGNC:15690, NCBI Gene:84090, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 23021407 23021870 22678934 22679397 +PA38023 84089 HGNC:15691 ENSG00000254073 immunoglobulin lambda variable (VII)-41-1 (pseudogene) IGLVVII-41-1 IGLV(VII)-41-1 Yes No Ensembl:ENSG00000254073, GenAtlas:IGLVVII-41-1, GeneCard:IGLVVII-41-1, HGNC:HGNC:15691, NCBI Gene:84089, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22752619 22752917 22398284 22398582 +PA29761 3547 HGNC:5948 ENSG00000147255 immunoglobulin superfamily member 1 IGSF1 immunoglobulin superfamily, member 1 IGCD1, IGDC1, INHBP, KIAA0364, MGC75490, PGSF2 Yes No Comparative Toxicogenomics Database:3547, Ensembl:ENSG00000147255, GenAtlas:IGSF1, GeneCard:IGSF1, HGNC:HGNC:5948, HumanCyc Gene:HS07412, ModBase:Q8N6C5, NCBI Gene:3547, OMIM:300137, RefSeq DNA:NG_021190, RefSeq DNA:NT_011786, RefSeq Protein:NP_001164432, RefSeq Protein:NP_001164433, RefSeq Protein:NP_001164434, RefSeq Protein:NP_001546, RefSeq Protein:NP_991402, RefSeq RNA:NM_001170961, RefSeq RNA:NM_001170962, RefSeq RNA:NM_001170963, RefSeq RNA:NM_001555, RefSeq RNA:NM_205833, UCSC Genome Browser:NM_001555, UniProtKB:Q8N6C5 No chrX 130407480 130423403 131273506 131289457 +PA134900760 285313 HGNC:26384 ENSG00000152580 immunoglobulin superfamily member 10 IGSF10 immunoglobulin superfamily, member 10 CMF608, FLJ25972 Yes No Comparative Toxicogenomics Database:285313, Ensembl:ENSG00000152580, GeneCard:IGSF10, HGNC:HGNC:26384, ModBase:Q6WRI0, NCBI Gene:285313, RefSeq DNA:NT_005612, RefSeq Protein:NP_001171616, RefSeq Protein:NP_001171617, RefSeq Protein:NP_849144, RefSeq RNA:NM_001178145, RefSeq RNA:NM_001178146, RefSeq RNA:NM_178822, UniProtKB:Q6WRI0 No chr3 151153778 151179272 151435051 151619926 +PA134939253 152404 HGNC:16669 ENSG00000144847 immunoglobulin superfamily member 11 IGSF11 """cancer/testis antigen 119"", ""immunoglobulin superfamily, member 11""" BT-IgSF, CT119, Igsf13, MGC35227, VSIG3 Yes No Comparative Toxicogenomics Database:152404, Ensembl:ENSG00000144847, GeneCard:IGSF11, HGNC:HGNC:16669, HumanCyc Gene:HS14057, NCBI Gene:152404, OMIM:608351, RefSeq DNA:NT_005612, RefSeq Protein:NP_001015887, RefSeq Protein:NP_689751, RefSeq RNA:NM_001015887, RefSeq RNA:NM_152538, UniProtKB:Q5DX21 No chr3 118619477 118864915 118900630 119146068 +PA142671661 84966 HGNC:28246 ENSG00000117154 immunoglobin superfamily member 21 IGSF21 immunoglobin superfamily, member 21 MGC15730, RP11-121A23.1 Yes No Ensembl:ENSG00000117154, GeneCard:IGSF21, HGNC:HGNC:28246, HumanCyc Gene:HS12891, ModBase:Q96ID5, NCBI Gene:84966, RefSeq DNA:NT_004610, RefSeq Protein:NP_116269, RefSeq RNA:NM_032880, UniProtKB:Q96ID5 No chr1 18434240 18704977 18107746 18378483 +PA142671662 283284 HGNC:26750 ENSG00000179057 immunoglobulin superfamily member 22 IGSF22 immunoglobulin superfamily, member 22 FLJ37794, IGFN2 Yes No Ensembl:ENSG00000179057, GeneCard:IGSF22, HGNC:HGNC:26750, HumanCyc Gene:HS17188, NCBI Gene:283284, RefSeq DNA:NT_009237, RefSeq Protein:NP_775859, RefSeq RNA:NM_173588, UniProtKB:Q8N9C0 No chr11 18725852 18747777 18704305 18726939 +PA166049060 147710 HGNC:40040 ENSG00000216588 immunoglobulin superfamily member 23 IGSF23 immunoglobulin superfamily, member 23 Yes No Ensembl:ENSG00000216588, HGNC:HGNC:40040, NCBI Gene:147710 No chr19 45116911 45140081 44612577 44636781 +PA29763 3321 HGNC:5950 ENSG00000143061 immunoglobulin superfamily member 3 IGSF3 immunoglobulin superfamily, member 3 EWI-3, MGC117164, V8 Yes No Comparative Toxicogenomics Database:3321, Ensembl:ENSG00000143061, GenAtlas:IGSF3, GeneCard:IGSF3, HGNC:HGNC:5950, HumanCyc Gene:HS06981, ModBase:O75054, NCBI Gene:3321, OMIM:603491, RefSeq DNA:NT_032977, RefSeq Protein:NP_001007238, RefSeq Protein:NP_001533, RefSeq RNA:NM_001007237, RefSeq RNA:NM_001542, UCSC Genome Browser:NM_001542, UniProtKB:A6NJZ6, UniProtKB:O75054 No chr1 117117020 117210377 116574398 116667755 +PA29765 150084 HGNC:5952 ENSG00000183067 immunoglobulin superfamily member 5 IGSF5 """immunoglobulin superfamily, member 5"", ""junctional adhesion molecule 4""" JAM4 Yes No Ensembl:ENSG00000183067, GenAtlas:IGSF5, GeneCard:IGSF5, HGNC:HGNC:5952, ModBase:Q9NSI5, NCBI Gene:150084, OMIM:610638, RefSeq DNA:NT_011512, RefSeq Protein:NP_001073913, RefSeq RNA:NM_001080444, UniProtKB:Q9NSI5 No chr21 41117334 41174023 39725838 39802096 +PA29766 10261 HGNC:5953 ENSG00000140749 immunoglobulin superfamily member 6 IGSF6 immunoglobulin superfamily, member 6 DORA Yes No Comparative Toxicogenomics Database:10261, Ensembl:ENSG00000140749, GenAtlas:IGSF6, GeneCard:IGSF6, HGNC:HGNC:5953, HumanCyc Gene:HS06755, ModBase:O95976, NCBI Gene:10261, OMIM:606222, RefSeq DNA:NT_010393, RefSeq Protein:NP_005840, RefSeq RNA:NM_005849, UCSC Genome Browser:NM_005849, UniProtKB:O95976 No chr16 21652605 21663987 21641284 21652666 +PA29767 93185 HGNC:17813 ENSG00000162729 immunoglobulin superfamily member 8 IGSF8 immunoglobulin superfamily, member 8 CD316, CD81P3, EWI2, PGRL Yes No Comparative Toxicogenomics Database:93185, Ensembl:ENSG00000162729, GenAtlas:IGSF8, GeneCard:IGSF8, HGNC:HGNC:17813, HumanCyc Gene:HS14959, ModBase:Q969P0, NCBI Gene:93185, OMIM:606644, RefSeq DNA:NT_004487, RefSeq Protein:NP_001193594, RefSeq Protein:NP_443100, RefSeq RNA:NM_001206665, RefSeq RNA:NM_052868, UCSC Genome Browser:NM_052868, UniProtKB:Q969P0 No chr1 160061129 160068650 160091339 160099442 +PA38508 57549 HGNC:18132 ENSG00000085552 immunoglobulin superfamily member 9 IGSF9 """immunoglobulin superfamily, member 9"", ""turtle (Drosophila) homolog A""" IGSF9A, KIAA1355, Nrt1 Yes No Ensembl:ENSG00000085552, GenAtlas:IGSF9, GeneCard:IGSF9, HGNC:HGNC:18132, HumanCyc Gene:HS12288, NCBI Gene:57549, OMIM:609738, RefSeq DNA:NT_004487, RefSeq Protein:NP_001128522, RefSeq Protein:NP_065840, RefSeq RNA:NM_001135050, RefSeq RNA:NM_020789, UCSC Genome Browser:NM_020789, UniProtKB:Q9P2J2 No chr1 159896829 159915386 159927039 159945661 +PA142671660 22997 HGNC:32326 ENSG00000080854 immunoglobulin superfamily member 9B IGSF9B """immunoglobulin superfamily, member 9B"", ""turtle (Drosophila) homolog B""" KIAA1030, LINC00947, LOC283174, MIR4697HG Yes No Ensembl:ENSG00000080854, GeneCard:IGSF9B, HGNC:HGNC:32326, ModBase:Q9UPX0, NCBI Gene:22997, RefSeq DNA:NT_033899, RefSeq Protein:NP_055802, RefSeq RNA:NM_014987, UniProtKB:Q8N7W7, UniProtKB:Q9UPX0 No chr11 133778520 133826649 133908564 133956960 +PA29769 3549 HGNC:5956 ENSG00000163501 Indian hedgehog signaling molecule IHH indian hedgehog BDA1, HHG2 Yes No Comparative Toxicogenomics Database:3549, Ensembl:ENSG00000163501, GenAtlas:IHH, GeneCard:IHH, HGNC:HGNC:5956, HumanCyc Gene:HS08862, ModBase:Q14623, NCBI Gene:3549, OMIM:112500, OMIM:600726, OMIM:607778, RefSeq DNA:NG_016741, RefSeq DNA:NT_005403, RefSeq Protein:NP_002172, RefSeq RNA:NM_002181, UniProtKB:Q14623 No chr2 219919142 219925238 219054420 219060516 +PA166351925 339834 HGNC:27945 interactor of HORMAD1 1 IHO1 cancer/testis antigen 74 CCDC36, CT74, FLJ25320, LELA1 Yes No HGNC:HGNC:27945, NCBI Gene:339834 No 0 0 0 0 +PA29774 3550 HGNC:5958 ENSG00000113141 IK cytokine IK IK cytokine, down-regulator of HLA II RED, RER Yes No Ensembl:ENSG00000113141, GenAtlas:IK, GeneCard:IK, HGNC:HGNC:5958, HumanCyc Gene:HS03651, NCBI Gene:3550, OMIM:600549, RefSeq DNA:NT_029289, RefSeq Protein:NP_006074, RefSeq RNA:NM_006083, UCSC Genome Browser:NM_006083, UniProtKB:Q13123, UniProtKB:Q95HA6, UniProtKB:Q9UK43 No chr5 140027384 140042065 140647799 140662480 +PA165512948 121457 HGNC:26430 ENSG00000166130 IKBKB interacting protein IKBIP I kappa B kinase interacting protein FLJ31051, IKIP Yes No Ensembl:ENSG00000166130, GeneCard:IKBIP, HGNC:HGNC:26430, HumanCyc Gene:HS15406, NCBI Gene:121457, OMIM:609861, RefSeq DNA:NT_029419, RefSeq Protein:NP_710154, RefSeq Protein:NP_963906, RefSeq Protein:NP_963907, RefSeq RNA:NM_153687, RefSeq RNA:NM_201612, RefSeq RNA:NM_201613, UniProtKB:Q70UQ0 No chr12 99007182 99038829 98613404 98645051 +PA29776 3551 HGNC:5960 ENSG00000104365 inhibitor of nuclear factor kappa B kinase subunit beta IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta IKK-beta, IKK2, IKKB, NFKBIKB Yes Yes Comparative Toxicogenomics Database:3551, Ensembl:ENSG00000104365, GenAtlas:IKBKB, GeneCard:IKBKB, HGNC:HGNC:5960, HumanCyc Gene:HS02571, ModBase:O14920, NCBI Gene:3551, OMIM:603258, RefSeq DNA:NT_167187, RefSeq Protein:NP_001177649, RefSeq Protein:NP_001177650, RefSeq Protein:NP_001177651, RefSeq Protein:NP_001229707, RefSeq Protein:NP_001547, RefSeq RNA:NM_001190720, RefSeq RNA:NM_001190721, RefSeq RNA:NM_001190722, RefSeq RNA:NM_001242778, RefSeq RNA:NM_001556, RefSeq RNA:NR_033818, RefSeq RNA:NR_033819, RefSeq RNA:NR_033820, RefSeq RNA:NR_040009, UniProtKB:O14920 No chr8 42128820 42190171 42271302 42332653 +PA134962294 9641 HGNC:14552 ENSG00000263528 inhibitor of nuclear factor kappa B kinase subunit epsilon IKBKE inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon IKK-i, IKKE, KIAA0151 Yes Yes Ensembl:ENSG00000263528, GeneCard:IKBKE, HGNC:HGNC:14552, HumanCyc Gene:HS07060, ModBase:Q14164, NCBI Gene:9641, OMIM:605048, RefSeq DNA:NT_167186, RefSeq Protein:NP_001180250, RefSeq Protein:NP_001180251, RefSeq Protein:NP_054721, RefSeq RNA:NM_001193321, RefSeq RNA:NM_001193322, RefSeq RNA:NM_014002, UniProtKB:Q14164 No chr1 206643586 206670223 206470243 206496890 +PA29777 8517 HGNC:5961 ENSG00000269335 inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IKBKG """14.7K (adenovirus E3 protein) interacting protein 3"", ""I-kappa-B kinase subunit gamma"", ""IkB kinase subunit gamma"", ""IkB kinase-associated protein 1"", ""NF-kappa-B essential modulator"", ""inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma"", ""inhibitor of nuclear factor kappa B kinase subunit gamma""" FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG, IP1, IP2, NEMO, ZC2HC9 Yes Yes Comparative Toxicogenomics Database:8517, Ensembl:ENSG00000269335, GenAtlas:IKBKG, GeneCard:IKBKG, HGNC:HGNC:5961, HumanCyc Gene:HS01091, ModBase:Q9Y6K9, NCBI Gene:8517, OMIM:300248, OMIM:300291, OMIM:300301, OMIM:300584, OMIM:300636, OMIM:300640, OMIM:308300, RefSeq DNA:NG_009896, RefSeq DNA:NT_167198, RefSeq Protein:NP_001093326, RefSeq Protein:NP_001093327, RefSeq Protein:NP_001138727, RefSeq Protein:NP_003630, RefSeq RNA:NM_001099856, RefSeq RNA:NM_001099857, RefSeq RNA:NM_001145255, RefSeq RNA:NM_003639, UCSC Genome Browser:NM_003639, UniProtKB:A6NG82, UniProtKB:Q7LBY6, UniProtKB:Q7Z7F1, UniProtKB:Q9Y6K9 No chrX 153769419 153796804 154542240 154565046 +PA37748 10320 HGNC:13176 ENSG00000185811 IKAROS family zinc finger 1 IKZF1 """IKAROS family zinc finger 1 (Ikaros)"", ""protein phosphatase 1, regulatory subunit 92""" Hs.54452, IKAROS, LyF-1, PPP1R92, ZNFN1A1, hIk-1 Yes No Comparative Toxicogenomics Database:10320, Ensembl:ENSG00000185811, GenAtlas:ZNFN1A1, GeneCard:IKZF1, HGNC:HGNC:13176, ModBase:Q13422, NCBI Gene:10320, OMIM:603023, RefSeq DNA:NT_007819, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_001207694, RefSeq Protein:NP_001207695, RefSeq Protein:NP_001207696, RefSeq Protein:NP_001207697, RefSeq Protein:NP_001207698, RefSeq Protein:NP_001207699, RefSeq Protein:NP_001207700, RefSeq Protein:NP_001207701, RefSeq Protein:NP_001207702, RefSeq Protein:NP_001207703, RefSeq Protein:NP_001207704, RefSeq Protein:NP_001207705, RefSeq Protein:NP_006051, RefSeq RNA:NM_001220765, RefSeq RNA:NM_001220766, RefSeq RNA:NM_001220767, RefSeq RNA:NM_001220768, RefSeq RNA:NM_001220769, RefSeq RNA:NM_001220770, RefSeq RNA:NM_001220771, RefSeq RNA:NM_001220772, RefSeq RNA:NM_001220773, RefSeq RNA:NM_001220774, RefSeq RNA:NM_001220775, RefSeq RNA:NM_001220776, RefSeq RNA:NM_006060, UCSC Genome Browser:NM_006060, UniProtKB:Q13422 No chr7 +PA162391927 22807 HGNC:13177 ENSG00000030419 IKAROS family zinc finger 2 IKZF2 IKAROS family zinc finger 2 (Helios) Helios, ZNFN1A2 Yes No Ensembl:ENSG00000030419, GeneCard:IKZF2, HGNC:HGNC:13177, HumanCyc Gene:HS00478, ModBase:Q9UKS7, NCBI Gene:22807, OMIM:606234, RefSeq DNA:NT_005403, RefSeq Protein:NP_001072994, RefSeq Protein:NP_057344, RefSeq RNA:NM_001079526, RefSeq RNA:NM_016260, UniProtKB:Q9UKS7 No chr2 213864408 214016379 212999684 213152753 +PA37750 22806 HGNC:13178 ENSG00000161405 IKAROS family zinc finger 3 IKZF3 IKAROS family zinc finger 3 (Aiolos) Aiolos, ZNFN1A3 Yes Yes Ensembl:ENSG00000161405, GenAtlas:ZNFN1A3, GeneCard:IKZF3, HGNC:HGNC:13178, HumanCyc Gene:HS08585, ModBase:Q9UKT9, NCBI Gene:22806, OMIM:606221, RefSeq DNA:NT_010783, RefSeq Protein:NP_036613, RefSeq Protein:NP_899051, RefSeq Protein:NP_899052, RefSeq Protein:NP_899053, RefSeq Protein:NP_899054, RefSeq Protein:NP_899055, RefSeq RNA:NM_012481, RefSeq RNA:NM_183228, RefSeq RNA:NM_183229, RefSeq RNA:NM_183230, RefSeq RNA:NM_183231, RefSeq RNA:NM_183232, UCSC Genome Browser:NM_012481, UniProtKB:Q9UKT9 No chr17 37913968 38020441 39757715 39864188 +PA162391948 64375 HGNC:13179 ENSG00000123411 IKAROS family zinc finger 4 IKZF4 IKAROS family zinc finger 4 (Eos) Eos, ZNFN1A4 Yes No Ensembl:ENSG00000123411, GeneCard:IKZF4, HGNC:HGNC:13179, HumanCyc Gene:HS04657, ModBase:Q9H2S9, NCBI Gene:64375, OMIM:606239, RefSeq DNA:NT_029419, RefSeq Protein:NP_071910, RefSeq RNA:NM_022465, UniProtKB:Q9H2S9 No chr12 56401268 56432219 56007647 56038435 +PA162391969 64376 HGNC:14283 ENSG00000095574 IKAROS family zinc finger 5 IKZF5 IKAROS family zinc finger 5 (Pegasus) FLJ22973, Pegasus, ZNFN1A5 Yes No Ensembl:ENSG00000095574, GeneCard:IKZF5, HGNC:HGNC:14283, HumanCyc Gene:HS12357, ModBase:Q9H5V7, NCBI Gene:64376, OMIM:606238, RefSeq DNA:NT_030059, RefSeq Protein:NP_071911, RefSeq RNA:NM_022466, UniProtKB:Q9H5V7 No chr10 124750322 124768366 122990806 123008850 +PA29778 3586 HGNC:5962 ENSG00000136634 interleukin 10 IL10 T-cell growth inhibitory factor, cytokine synthesis inhibitory factor CSIF, IL-10, IL10A, TGIF Yes Yes Comparative Toxicogenomics Database:3586, Ensembl:ENSG00000136634, GenAtlas:IL10, GeneCard:IL10, HGNC:HGNC:5962, HumanCyc Gene:HS06190, ModBase:P22301, NCBI Gene:3586, OMIM:124092, OMIM:180300, RefSeq DNA:NG_012088, RefSeq DNA:NT_167186, RefSeq Protein:NP_000563, RefSeq RNA:NM_000572, UCSC Genome Browser:NM_000572, UniProtKB:P22301, UniProtKB:Q6FGW4 No chr1 206940948 206945839 206767603 206772494 +PA29779 3587 HGNC:5964 ENSG00000110324 interleukin 10 receptor subunit alpha IL10RA interleukin 10 receptor, alpha CD210, CD210a, CDW210A, HIL-10R, IL10R Yes No Comparative Toxicogenomics Database:3587, Ensembl:ENSG00000110324, GenAtlas:IL10RA, GeneCard:IL10RA, HGNC:HGNC:5964, HumanCyc Gene:HS03300, ModBase:Q13651, NCBI Gene:3587, OMIM:146933, RefSeq DNA:NG_016275, RefSeq DNA:NT_033899, RefSeq Protein:NP_001549, RefSeq RNA:NM_001558, RefSeq RNA:NR_026691, UCSC Genome Browser:NM_001558, UniProtKB:Q13651 No chr11 117857106 117872198 117986391 118001483 +PA29780 3588 HGNC:5965 ENSG00000243646 interleukin 10 receptor subunit beta IL10RB interleukin 10 receptor, beta CDW210B, CRF2-4, CRFB4, D21S58, D21S66, IL-10R2 Yes No Comparative Toxicogenomics Database:3588, Ensembl:ENSG00000243646, GenAtlas:IL10RB, GeneCard:IL10RB, HGNC:HGNC:5965, ModBase:Q08334, NCBI Gene:3588, OMIM:123889, OMIM:610424, OMIM:612567, RefSeq DNA:NG_012089, RefSeq DNA:NT_011512, RefSeq Protein:NP_000619, RefSeq RNA:NM_000628, UCSC Genome Browser:NM_000628, UniProtKB:Q08334 No chr21 34638665 34669539 33266360 33297234 +PA29781 3589 HGNC:5966 ENSG00000095752 interleukin 11 IL11 adipogenesis inhibitory factor, oprelvekin AGIF, IL-11 Yes Yes Comparative Toxicogenomics Database:3589, Ensembl:ENSG00000095752, GenAtlas:IL11, GeneCard:IL11, HGNC:HGNC:5966, HumanCyc Gene:HS01833, ModBase:P20809, NCBI Gene:3589, OMIM:147681, RefSeq DNA:NT_011109, RefSeq Protein:NP_000632, RefSeq RNA:NM_000641, UCSC Genome Browser:NM_000641, UniProtKB:A8K3F7, UniProtKB:P20809 No chr19 55875750 55881831 55364382 55370463 +PA29782 3590 HGNC:5967 ENSG00000137070 interleukin 11 receptor subunit alpha IL11RA interleukin 11 receptor, alpha Yes No Ensembl:ENSG00000137070, GenAtlas:IL11RA, GeneCard:IL11RA, HGNC:HGNC:5967, HumanCyc Gene:HS06263, ModBase:Q14626, NCBI Gene:3590, OMIM:600939, RefSeq DNA:NT_008413, RefSeq Protein:NP_001136256, RefSeq Protein:NP_004503, RefSeq Protein:NP_671518, RefSeq RNA:NM_001142784, RefSeq RNA:NM_004512, RefSeq RNA:NM_147162, UCSC Genome Browser:NM_004512, UniProtKB:Q14626, UniProtKB:Q5VZ79 No chr9 34652182 34661899 34652185 34661902 +PA29784 3592 HGNC:5969 ENSG00000168811 interleukin 12A IL12A """IL-12, subunit p35"", ""IL35 subunit"", ""NF cell stimulatory factor chain 1"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"", ""interleukin-12 alpha chain"", ""natural killer cell stimulatory factor 1, 35 kD subunit""" CLMF, IL-12A, NFSK, NKSF1, p35 Yes Yes Comparative Toxicogenomics Database:3592, Ensembl:ENSG00000168811, GenAtlas:IL12A, GeneCard:IL12A, HGNC:HGNC:5969, HumanCyc Gene:HS09827, NCBI Gene:3592, OMIM:161560, RefSeq DNA:NT_005612, RefSeq Protein:NP_000873, RefSeq RNA:NM_000882, UCSC Genome Browser:NM_000882, UniProtKB:O60595, UniProtKB:P29459 No chr3 159706623 159713806 159988836 159996019 +PA29785 3593 HGNC:5970 ENSG00000113302 interleukin 12B IL12B """IL12, subunit p40"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"", ""interleukin-12 beta chain"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""natural killer cell stimulatory factor-2""" CLMF, CLMF2, IL-12B, NKSF, NKSF2 Yes Yes Comparative Toxicogenomics Database:3593, Ensembl:ENSG00000113302, GenAtlas:IL12B, GeneCard:IL12B, HGNC:HGNC:5970, HumanCyc Gene:HS03667, ModBase:P29460, NCBI Gene:3593, OMIM:161561, OMIM:177900, OMIM:209950, OMIM:600807, RefSeq DNA:NG_009618, RefSeq DNA:NT_023133, RefSeq Protein:NP_002178, RefSeq RNA:NM_002187, UCSC Genome Browser:NM_002187, UniProtKB:P29460 No chr5 158741791 158757481 159314783 159330473 +PA29786 3594 HGNC:5971 ENSG00000096996 interleukin 12 receptor subunit beta 1 IL12RB1 interleukin 12 receptor, beta 1 CD212, IL12RB Yes No Comparative Toxicogenomics Database:3594, Ensembl:ENSG00000096996, GenAtlas:IL12RB1, GeneCard:IL12RB1, HGNC:HGNC:5971, HumanCyc Gene:HS01873, ModBase:P42701, NCBI Gene:3594, OMIM:209950, OMIM:601604, RefSeq DNA:NG_007366, RefSeq DNA:NT_011295, RefSeq Protein:NP_005526, RefSeq Protein:NP_714912, RefSeq RNA:NM_005535, RefSeq RNA:NM_153701, UCSC Genome Browser:NM_005535, UniProtKB:P42701 No chr19 18170371 18197806 18058994 18099027 +PA29787 3595 HGNC:5972 ENSG00000081985 interleukin 12 receptor subunit beta 2 IL12RB2 interleukin 12 receptor, beta 2 Yes No Comparative Toxicogenomics Database:3595, Ensembl:ENSG00000081985, GenAtlas:IL12RB2, GeneCard:IL12RB2, HGNC:HGNC:5972, HumanCyc Gene:HS01409, ModBase:Q99665, NCBI Gene:3595, OMIM:601642, RefSeq DNA:NT_032977, RefSeq Protein:NP_001550, RefSeq RNA:NM_001559, UCSC Genome Browser:NM_001559, UniProtKB:Q99665 No chr1 67773047 67862583 67307351 67397730 +PA199 3596 HGNC:5973 ENSG00000169194 interleukin 13 IL13 Bronchial hyperresponsiveness-1 (bronchial asthma), allergic rhinitis ALRH, BHR1, IL-13, MGC116786, MGC116788, MGC116789, P600 Yes Yes Comparative Toxicogenomics Database:3596, Ensembl:ENSG00000169194, GenAtlas:IL13, GeneCard:IL13, HGNC:HGNC:5973, HumanCyc Gene:HS09897, NCBI Gene:3596, OMIM:147683, OMIM:600807, OMIM:607154, RefSeq DNA:NG_012090, RefSeq DNA:NT_034772, RefSeq Protein:NP_002179, RefSeq RNA:NM_002188, UCSC Genome Browser:NM_002188, UniProtKB:P35225 No chr5 131993865 131996801 132658173 132661109 +PA200 3597 HGNC:5974 ENSG00000131724 interleukin 13 receptor subunit alpha 1 IL13RA1 """CD213a1 antigen"", ""IL13 receptor alpha-1 chain"", ""interleukin 13 receptor, alpha 1""" CD213a1, IL-13Ra, NR4 Yes No Comparative Toxicogenomics Database:3597, Ensembl:ENSG00000131724, GenAtlas:IL13RA1, GeneCard:IL13RA1, HGNC:HGNC:5974, HumanCyc Gene:HS05554, ModBase:P78552, NCBI Gene:3597, OMIM:300119, RefSeq DNA:NG_012841, RefSeq DNA:NT_011786, RefSeq Protein:NP_001551, RefSeq RNA:NM_001560, UCSC Genome Browser:NM_001560, UniProtKB:P78552, UniProtKB:Q5JSL4 No chrX 117861514 117928496 118726954 118794533 +PA29788 3598 HGNC:5975 ENSG00000123496 interleukin 13 receptor subunit alpha 2 IL13RA2 """cancer/testis antigen 19"", ""interleukin 13 receptor, alpha 2""" CD213a2, CT19, IL-13R, IL13BP Yes No Comparative Toxicogenomics Database:3598, Ensembl:ENSG00000123496, GenAtlas:IL13RA2, GeneCard:IL13RA2, HGNC:HGNC:5975, HumanCyc Gene:HS04665, ModBase:Q14627, NCBI Gene:3598, OMIM:300130, RefSeq DNA:NG_012514, RefSeq DNA:NT_028405, RefSeq Protein:NP_000631, RefSeq RNA:NM_000640, UCSC Genome Browser:NM_000640, UniProtKB:Q14627 No chrX 114238538 114252207 115003975 115017644 +PA29790 3600 HGNC:5977 ENSG00000164136 interleukin 15 IL15 IL-15, MGC9721 Yes No Comparative Toxicogenomics Database:3600, Ensembl:ENSG00000164136, GenAtlas:IL15, GeneCard:IL15, HGNC:HGNC:5977, HumanCyc Gene:HS09026, ModBase:P40933, NCBI Gene:3600, OMIM:600554, RefSeq DNA:NT_016354, RefSeq Protein:NP_000576, RefSeq Protein:NP_751914, RefSeq Protein:NP_751915, RefSeq RNA:NM_000585, RefSeq RNA:NM_172174, RefSeq RNA:NM_172175, RefSeq RNA:NR_037840, UCSC Genome Browser:NM_000585, UniProtKB:P40933 No chr4 142557749 142655140 141636596 141733987 +PA29791 3601 HGNC:5978 ENSG00000134470 interleukin 15 receptor subunit alpha IL15RA interleukin 15 receptor, alpha CD215, IL-15RA Yes No Comparative Toxicogenomics Database:3601, Ensembl:ENSG00000134470, GenAtlas:IL15RA, GeneCard:IL15RA, HGNC:HGNC:5978, HumanCyc Gene:HS05875, ModBase:Q13261, NCBI Gene:3601, OMIM:601070, RefSeq DNA:NT_008705, RefSeq Protein:NP_002180, RefSeq Protein:NP_751950, RefSeq RNA:NM_002189, RefSeq RNA:NM_172200, RefSeq RNA:NR_033494, UCSC Genome Browser:NM_002189, UniProtKB:Q13261 No chr10 5994334 6020150 5948897 5978741 +PA29793 3603 HGNC:5980 ENSG00000172349 interleukin 16 IL16 lymphocyte chemoattractant factor, prointerleukin 16 FLJ16806, FLJ42735, HsT19289, IL-16, LCF, prIL-16 Yes Yes Comparative Toxicogenomics Database:3603, Ensembl:ENSG00000172349, GenAtlas:IL16, GeneCard:IL16, HGNC:HGNC:5980, HumanCyc Gene:HS10497, ModBase:Q14005, NCBI Gene:3603, OMIM:603035, RefSeq DNA:NT_010194, RefSeq Protein:NP_001165599, RefSeq Protein:NP_004504, RefSeq Protein:NP_757366, RefSeq RNA:NM_001172128, RefSeq RNA:NM_004513, RefSeq RNA:NM_172217, UCSC Genome Browser:NM_004513, UniProtKB:Q14005, UniProtKB:Q9UME6 No chr15 81474941 81605104 81181844 81312763 +PA29794 3605 HGNC:5981 ENSG00000112115 interleukin 17A IL17A cytotoxic T-lymphocyte-associated protein 8 CTLA8, IL-17, IL-17A, IL17 Yes Yes Comparative Toxicogenomics Database:3605, Ensembl:ENSG00000112115, GenAtlas:IL17A, GeneCard:IL17A, HGNC:HGNC:5981, HumanCyc Gene:HS03518, ModBase:Q16552, NCBI Gene:3605, OMIM:603149, RefSeq DNA:NT_007592, RefSeq Protein:NP_002181, RefSeq RNA:NM_002190, UCSC Genome Browser:NM_002190, UniProtKB:Q16552 No chr6 52051185 52055436 52186387 52190638 +PA29795 27190 HGNC:5982 ENSG00000127743 interleukin 17B IL17B neuronal interleukin-17-related factor IL-17B, IL-20, MGC138900, MGC138901, NIRF, ZCYTO7 Yes No Ensembl:ENSG00000127743, GenAtlas:IL17B, GeneCard:IL17B, HGNC:HGNC:5982, HumanCyc Gene:HS05125, ModBase:Q9UHF5, NCBI Gene:27190, OMIM:604627, RefSeq DNA:NT_029289, RefSeq Protein:NP_055258, RefSeq RNA:NM_014443, UCSC Genome Browser:NM_014443, UniProtKB:Q9UHF5 No chr5 148753830 148760848 149374267 149404202 +PA29797 27189 HGNC:5983 ENSG00000124391 interleukin 17C IL17C CX2, IL-17C, IL-21, MGC126884, MGC138401 Yes No Ensembl:ENSG00000124391, GenAtlas:IL17C, GeneCard:IL17C, HGNC:HGNC:5983, HumanCyc Gene:HS04766, ModBase:Q9P0M4, NCBI Gene:27189, OMIM:604628, RefSeq DNA:NT_010542, RefSeq Protein:NP_037410, RefSeq RNA:NM_013278, UCSC Genome Browser:NM_013278, UniProtKB:Q9P0M4 No chr16 88705001 88706882 88638593 88640474 +PA29798 53342 HGNC:5984 ENSG00000172458 interleukin 17D IL17D interleukin 27 FLJ30846, IL-17D, IL-22, IL-27, IL27 Yes No Ensembl:ENSG00000172458, GenAtlas:IL17D, GeneCard:IL17D, HGNC:HGNC:5984, HumanCyc Gene:HS16088, ModBase:Q8TAD2, NCBI Gene:53342, OMIM:607587, RefSeq DNA:NT_024524, RefSeq Protein:NP_612141, RefSeq RNA:NM_138284, UCSC Genome Browser:NM_138284, UniProtKB:Q8TAD2 No chr13 21276222 21297239 20702775 20723100 +PA29800 112744 HGNC:16404 ENSG00000112116 interleukin 17F IL17F IL-17F, ML-1, ML1 Yes Yes Ensembl:ENSG00000112116, GenAtlas:IL17F, GeneCard:IL17F, HGNC:HGNC:16404, HumanCyc Gene:HS03519, ModBase:Q96PD4, NCBI Gene:112744, OMIM:606496, RefSeq DNA:NT_007592, RefSeq Protein:NP_443104, RefSeq RNA:NM_052872, UCSC Genome Browser:NM_052872, UniProtKB:Q96PD4 No chr6 52101484 52109298 52236681 52245689 +PA29801 23765 HGNC:5985 ENSG00000177663 interleukin 17 receptor A IL17RA CD217, CDw217, IL-17RA, IL17R, hIL-17R Yes Yes Comparative Toxicogenomics Database:23765, Ensembl:ENSG00000177663, GenAtlas:IL17RA, GeneCard:IL17RA, HGNC:HGNC:5985, HumanCyc Gene:HS11199, ModBase:Q96F46, NCBI Gene:23765, OMIM:605461, RefSeq DNA:NT_011519, RefSeq Protein:NP_055154, RefSeq RNA:NM_014339, UCSC Genome Browser:NM_014339, UniProtKB:Q96F46 No chr22 17565849 17596584 17084959 17115694 +PA29796 55540 HGNC:18015 ENSG00000056736 interleukin 17 receptor B IL17RB CRL4, EVI27, IL17BR, IL17RH1 Yes Yes Comparative Toxicogenomics Database:55540, Ensembl:ENSG00000056736, GeneCard:IL17RB, HGNC:HGNC:18015, HumanCyc Gene:HS00701, ModBase:Q9NRM6, NCBI Gene:55540, OMIM:605458, RefSeq DNA:NT_022517, RefSeq Protein:NP_061195, RefSeq RNA:NM_018725, UCSC Genome Browser:NM_018725, UniProtKB:Q9NRM6 No chr3 53880577 53899827 53846494 53866526 +PA134986616 84818 HGNC:18358 ENSG00000163702 interleukin 17 receptor C IL17RC IL17-RL Yes Yes Comparative Toxicogenomics Database:84818, Ensembl:ENSG00000163702, GeneCard:IL17RC, HGNC:HGNC:18358, HumanCyc Gene:HS15100, NCBI Gene:84818, OMIM:610925, RefSeq DNA:NT_022517, RefSeq Protein:NP_001190192, RefSeq Protein:NP_001190193, RefSeq Protein:NP_001190194, RefSeq Protein:NP_116121, RefSeq Protein:NP_703190, RefSeq Protein:NP_703191, RefSeq RNA:NM_001203263, RefSeq RNA:NM_001203264, RefSeq RNA:NM_001203265, RefSeq RNA:NM_032732, RefSeq RNA:NM_153460, RefSeq RNA:NM_153461, RefSeq RNA:NR_037807, UniProtKB:A8K3Q5, UniProtKB:Q8NAC3 No chr3 9958758 9975305 9917074 9933627 +PA134993407 54756 HGNC:17616 ENSG00000144730 interleukin 17 receptor D IL17RD similar expression to fgf genes FLJ35755, IL-17RD, IL17RLM, SEF Yes No Comparative Toxicogenomics Database:54756, Ensembl:ENSG00000144730, GeneCard:IL17RD, HGNC:HGNC:17616, HumanCyc Gene:HS07198, ModBase:Q8NFM7, NCBI Gene:54756, OMIM:606807, RefSeq DNA:NT_022517, RefSeq Protein:NP_060033, RefSeq RNA:NM_017563, UniProtKB:Q8NFM7 No chr3 57124010 57204345 57089982 57170317 +PA134896136 132014 HGNC:18439 ENSG00000163701 interleukin 17 receptor E IL17RE FLJ23658 Yes No Comparative Toxicogenomics Database:132014, Ensembl:ENSG00000163701, GeneCard:IL17RE, HGNC:HGNC:18439, HumanCyc Gene:HS15099, ModBase:Q8NFR9, NCBI Gene:132014, RefSeq DNA:NT_022517, RefSeq Protein:NP_001180309, RefSeq Protein:NP_705613, RefSeq Protein:NP_705614, RefSeq Protein:NP_705616, RefSeq RNA:NM_001193380, RefSeq RNA:NM_153480, RefSeq RNA:NM_153481, RefSeq RNA:NM_153483, UniProtKB:Q8NFR9 No chr3 9944296 9958086 9902086 9916402 +PA162391970 400935 HGNC:33808 ENSG00000188263 interleukin 17 receptor E like IL17REL interleukin 17 receptor E-like FLJ41993 Yes No Ensembl:ENSG00000188263, GeneCard:IL17REL, HGNC:HGNC:33808, NCBI Gene:400935, RefSeq DNA:NT_011526, RefSeq Protein:NP_001001694, RefSeq RNA:NM_001001694, UniProtKB:Q6ZVW7 No chr22 50432942 50451055 49993578 50013827 +PA29802 3606 HGNC:5986 ENSG00000150782 interleukin 18 IL18 interferon-gamma-inducing factor, interleukin 18 (interferon-gamma-inducing factor) IGIF, IL-18, IL-1g, IL1F4 Yes Yes Comparative Toxicogenomics Database:3606, Ensembl:ENSG00000150782, GenAtlas:IL18, GeneCard:IL18, HGNC:HGNC:5986, HumanCyc Gene:HS07691, NCBI Gene:3606, OMIM:600953, RefSeq DNA:NT_033899, RefSeq Protein:NP_001553, RefSeq RNA:NM_001562, UCSC Genome Browser:NM_001562, UniProtKB:Q14116 No chr11 112013974 112034840 112143251 112164117 +PA29803 10068 HGNC:5987 ENSG00000137496 interleukin 18 binding protein IL18BP MC51L-53L-54L homolog gene product IL18BPa Yes No Ensembl:ENSG00000137496, GenAtlas:IL18BP, GeneCard:IL18BP, HGNC:HGNC:5987, HumanCyc Gene:HS06350, ModBase:O95998, NCBI Gene:10068, OMIM:604113, RefSeq DNA:NT_167190, RefSeq Protein:NP_001034748, RefSeq Protein:NP_001034749, RefSeq Protein:NP_001138527, RefSeq Protein:NP_001138529, RefSeq Protein:NP_005690, RefSeq Protein:NP_766630, RefSeq Protein:NP_766632, RefSeq RNA:NM_001039659, RefSeq RNA:NM_001039660, RefSeq RNA:NM_001145055, RefSeq RNA:NM_001145057, RefSeq RNA:NM_005699, RefSeq RNA:NM_173042, RefSeq RNA:NM_173044, UCSC Genome Browser:NM_005699, UniProtKB:O95998 No chr11 71709955 71713965 71997944 72002919 +PA29804 8809 HGNC:5988 ENSG00000115604 interleukin 18 receptor 1 IL18R1 CD218a, IL-1Rrp, IL1RRP Yes No Comparative Toxicogenomics Database:8809, Ensembl:ENSG00000115604, GenAtlas:IL18R1, GeneCard:IL18R1, HGNC:HGNC:5988, HumanCyc Gene:HS03917, ModBase:Q13478, NCBI Gene:8809, OMIM:604494, RefSeq DNA:NT_022171, RefSeq Protein:NP_003846, RefSeq RNA:NM_003855, UCSC Genome Browser:NM_003855, UniProtKB:Q13478 No chr2 102979093 103015230 102355817 102398777 +PA29805 8807 HGNC:5989 ENSG00000115607 interleukin 18 receptor accessory protein IL18RAP AcPL, CD218b Yes No Ensembl:ENSG00000115607, GenAtlas:IL18RAP, GeneCard:IL18RAP, HGNC:HGNC:5989, HumanCyc Gene:HS03918, ModBase:O95256, NCBI Gene:8807, OMIM:604509, RefSeq DNA:NG_011481, RefSeq DNA:NT_022171, RefSeq Protein:NP_003844, RefSeq RNA:NM_003853, UCSC Genome Browser:NM_003853, UniProtKB:O95256 No chr2 103035254 103069025 102418551 102452568 +PA29806 29949 HGNC:5990 ENSG00000142224 interleukin 19 IL19 melanoma differentiation associated protein-like protein IL-10C, IL-19, MDA1, NG.1, ZMDA1 Yes No Ensembl:ENSG00000142224, GenAtlas:IL19, GeneCard:IL19, HGNC:HGNC:5990, HumanCyc Gene:HS06909, ModBase:Q9UHD0, NCBI Gene:29949, OMIM:605687, RefSeq DNA:NT_167186, RefSeq Protein:NP_037503, RefSeq Protein:NP_715639, RefSeq RNA:NM_013371, RefSeq RNA:NM_153758, UCSC Genome Browser:NM_013371, UniProtKB:Q5VUT3, UniProtKB:Q9UHD0 No chr1 206972215 207016326 206798870 206842981 +PA29807 3552 HGNC:5991 ENSG00000115008 interleukin 1 alpha IL1A """hematopoietin-1"", ""interleukin 1, alpha"", ""preinterleukin 1 alpha"", ""pro-interleukin-1-alpha""" IL-1A, IL1, IL1-ALPHA, IL1F1 Yes Yes Comparative Toxicogenomics Database:3552, Ensembl:ENSG00000115008, GenAtlas:IL1A, GeneCard:IL1A, HGNC:HGNC:5991, HumanCyc Gene:HS03823, ModBase:P01583, NCBI Gene:3552, OMIM:147760, RefSeq DNA:NG_008850, RefSeq DNA:NT_022135, RefSeq Protein:NP_000566, RefSeq RNA:NM_000575, UCSC Genome Browser:NM_000575, UniProtKB:P01583, UniProtKB:Q53QF9 No chr2 113531492 113542971 112773915 112785398 +PA29808 3553 HGNC:5992 ENSG00000125538 interleukin 1 beta IL1B interleukin 1, beta IL-1B, IL1-BETA, IL1F2 Yes Yes Comparative Toxicogenomics Database:3553, Ensembl:ENSG00000125538, GenAtlas:IL1B, GeneCard:IL1B, HGNC:HGNC:5992, HumanCyc Gene:HS04903, ModBase:P01584, NCBI Gene:3553, OMIM:137215, OMIM:147720, RefSeq DNA:NG_008851, RefSeq DNA:NT_022135, RefSeq Protein:NP_000567, RefSeq RNA:NM_000576, UCSC Genome Browser:NM_000576, UniProtKB:P01584 No chr2 113587337 113594356 112829758 112836842 +PA38387 84639 HGNC:15552 ENSG00000136697 interleukin 1 family member 10 IL1F10 """FIL1- theta"", ""interleukin 1 family, member 10 (theta)"", ""interleukin-1 receptor antagonist FKSG75""" FKSG75, IL-1F10, IL-1HY2, IL1-theta, MGC11983, MGC119832, MGC119833 Yes No Ensembl:ENSG00000136697, GenAtlas:IL1F10, GeneCard:IL1F10, HGNC:HGNC:15552, HumanCyc Gene:HS06199, ModBase:Q8WWZ1, NCBI Gene:84639, RefSeq DNA:NT_022135, RefSeq Protein:NP_115945, RefSeq Protein:NP_775184, RefSeq RNA:NM_032556, RefSeq RNA:NM_173161, UCSC Genome Browser:NM_032556, UniProtKB:Q8WWZ1 No chr2 113825547 113833427 113067970 113075850 +PA29809 3554 HGNC:5993 ENSG00000115594 interleukin 1 receptor type 1 IL1R1 """interleukin 1 receptor, type I"", ""interleukin-1 receptor, type I""" CD121A, D2S1473, IL1R, IL1RA Yes No Comparative Toxicogenomics Database:3554, Ensembl:ENSG00000115594, GenAtlas:IL1R1, GeneCard:IL1R1, HGNC:HGNC:5993, HumanCyc Gene:HS03913, ModBase:P14778, NCBI Gene:3554, OMIM:147810, RefSeq DNA:NT_022171, RefSeq Protein:NP_000868, RefSeq RNA:NM_000877, UCSC Genome Browser:NM_000877, UniProtKB:P14778 No chr2 102686836 102796334 102069638 102179874 +PA29810 7850 HGNC:5994 ENSG00000115590 interleukin 1 receptor type 2 IL1R2 interleukin 1 receptor, type II CD121b, IL1RB Yes No Comparative Toxicogenomics Database:7850, Ensembl:ENSG00000115590, GenAtlas:IL1R2, GeneCard:IL1R2, HGNC:HGNC:5994, HumanCyc Gene:HS03911, ModBase:P27930, NCBI Gene:7850, OMIM:147811, RefSeq DNA:NT_022171, RefSeq Protein:NP_004624, RefSeq Protein:NP_775465, RefSeq RNA:NM_004633, RefSeq RNA:NM_173343, UCSC Genome Browser:NM_004633, UniProtKB:P27930 No chr2 102608306 102644885 101991805 102028544 +PA29811 3556 HGNC:5995 ENSG00000196083 interleukin 1 receptor accessory protein IL1RAP C3orf13, IL-1RAcP, IL1R3 Yes No Comparative Toxicogenomics Database:3556, Ensembl:ENSG00000196083, GenAtlas:IL1RAP, GeneCard:IL1RAP, HGNC:HGNC:5995, ModBase:Q9NPH3, NCBI Gene:3556, OMIM:602626, RefSeq DNA:NT_005612, RefSeq Protein:NP_001161400, RefSeq Protein:NP_001161401, RefSeq Protein:NP_001161402, RefSeq Protein:NP_001161403, RefSeq Protein:NP_002173, RefSeq Protein:NP_608273, RefSeq RNA:NM_001167928, RefSeq RNA:NM_001167929, RefSeq RNA:NM_001167930, RefSeq RNA:NM_001167931, RefSeq RNA:NM_002182, RefSeq RNA:NM_134470, UCSC Genome Browser:NM_002182, UniProtKB:A8K6K4, UniProtKB:B1NLD0, UniProtKB:Q9NPH3 No chr3 190231840 190378856 190514051 190657197 +PA29812 11141 HGNC:5996 ENSG00000169306 interleukin 1 receptor accessory protein like 1 IL1RAPL1 Three immunoglobulin domain-containing IL-1 receptor-related 2, interleukin 1 receptor accessory protein-like 1 IL1R8, IL1RAPL, IL1RAPL-1, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2 Yes No Comparative Toxicogenomics Database:11141, Ensembl:ENSG00000169306, GenAtlas:IL1RAPL1, GeneCard:IL1RAPL1, HGNC:HGNC:5996, HumanCyc Gene:HS09926, ModBase:Q9NZN1, NCBI Gene:11141, OMIM:300143, OMIM:300206, RefSeq DNA:NG_008292, RefSeq DNA:NT_167197, RefSeq Protein:NP_055086, RefSeq RNA:NM_014271, UCSC Genome Browser:NM_014271, UniProtKB:A0AVG4, UniProtKB:Q9NZN1 No chrX 28605681 29974467 28587564 29956350 +PA29813 26280 HGNC:5997 ENSG00000189108 interleukin 1 receptor accessory protein like 2 IL1RAPL2 interleukin 1 receptor accessory protein-like 2 IL-1R9, IL1R9, IL1RAPL-2, TIGIRR-1 Yes No Comparative Toxicogenomics Database:26280, Ensembl:ENSG00000189108, GenAtlas:IL1RAPL2, GeneCard:IL1RAPL2, HGNC:HGNC:5997, ModBase:Q9NP60, NCBI Gene:26280, OMIM:300277, RefSeq DNA:NG_012566, RefSeq DNA:NT_011651, RefSeq Protein:NP_059112, RefSeq RNA:NM_017416, UCSC Genome Browser:NM_017416, UniProtKB:Q2M3U3, UniProtKB:Q9NP60 No chrX 103810996 105011822 104566315 105769729 +PA29814 9173 HGNC:5998 ENSG00000115602 interleukin 1 receptor like 1 IL1RL1 homolog of mouse growth stimulation-expressed, interleukin 1 receptor-like 1 DER4, FIT-1, IL33R, ST2, ST2L, ST2V, T1 Yes No Comparative Toxicogenomics Database:9173, Ensembl:ENSG00000115602, GenAtlas:IL1RL1, GeneCard:IL1RL1, HGNC:HGNC:5998, HumanCyc Gene:HS03916, ModBase:Q01638, NCBI Gene:9173, OMIM:601203, RefSeq DNA:NT_022171, RefSeq Protein:NP_003847, RefSeq Protein:NP_057316, RefSeq RNA:NM_003856, RefSeq RNA:NM_016232, UCSC Genome Browser:NM_003856, UniProtKB:Q01638 No chr2 102927962 102968497 102311502 102352367 +PA29815 8808 HGNC:5999 ENSG00000115598 interleukin 1 receptor like 2 IL1RL2 interleukin 1 receptor-like 2 IL-36R, IL1R-rp2, IL1RRP2 Yes No Ensembl:ENSG00000115598, GenAtlas:IL1RL2, GeneCard:IL1RL2, HGNC:HGNC:5999, HumanCyc Gene:HS03915, ModBase:Q9HB29, NCBI Gene:8808, OMIM:604512, RefSeq DNA:NT_022171, RefSeq Protein:NP_003845, RefSeq RNA:NM_003854, UCSC Genome Browser:NM_003854, UniProtKB:Q9HB29 No chr2 102803433 102856462 102186973 102242906 +PA29816 3557 HGNC:6000 ENSG00000136689 interleukin 1 receptor antagonist IL1RN interleukin-1 receptor antagonist protein, intracellular interleukin-1 receptor antagonist ICIL-1RA, IL-1RN, IL1F3, IL1RA, IRAP, MGC10430 Yes Yes Comparative Toxicogenomics Database:3557, Ensembl:ENSG00000136689, GenAtlas:IL1RN, GeneCard:IL1RN, HGNC:HGNC:6000, HumanCyc Gene:HS06195, ModBase:P18510, NCBI Gene:3557, OMIM:137215, OMIM:147679, OMIM:612628, OMIM:612852, RefSeq DNA:NG_021240, RefSeq DNA:NT_022135, RefSeq Protein:NP_000568, RefSeq Protein:NP_776213, RefSeq Protein:NP_776214, RefSeq Protein:NP_776215, RefSeq RNA:NM_000577, RefSeq RNA:NM_173841, RefSeq RNA:NM_173842, RefSeq RNA:NM_173843, UCSC Genome Browser:NM_000577, UniProtKB:P18510, UniProtKB:Q53SC2 No chr2 113868693 113891593 113099365 113134016 +PA195 3558 HGNC:6001 ENSG00000109471 interleukin 2 IL2 T cell growth factor IL-2, TCGF Yes Yes Comparative Toxicogenomics Database:3558, Ensembl:ENSG00000109471, GenAtlas:IL2, GeneCard:IL2, HGNC:HGNC:6001, HumanCyc Gene:HS03230, ModBase:P60568, NCBI Gene:3558, OMIM:147680, RefSeq DNA:NG_016779, RefSeq DNA:NT_016354, RefSeq Protein:NP_000577, RefSeq RNA:NM_000586, UCSC Genome Browser:NM_000586, UniProtKB:P60568, UniProtKB:Q0GK43 No chr4 123372625 123377650 122449479 122456495 +PA29817 50604 HGNC:6002 ENSG00000162891 interleukin 20 IL20 IL-20, IL10D, ZCYTO10 Yes No Ensembl:ENSG00000162891, GenAtlas:IL20, GeneCard:IL20, HGNC:HGNC:6002, HumanCyc Gene:HS08752, ModBase:Q9NYY1, NCBI Gene:50604, OMIM:605619, RefSeq DNA:NT_167186, RefSeq Protein:NP_061194, RefSeq RNA:NM_018724, UCSC Genome Browser:NM_018724, UniProtKB:Q9NYY1 No chr1 207038699 207042568 206865247 206869223 +PA29818 53832 HGNC:6003 ENSG00000016402 interleukin 20 receptor subunit alpha IL20RA interleukin 20 receptor, alpha IL-20R1, ZCYTOR7 Yes No Comparative Toxicogenomics Database:53832, Ensembl:ENSG00000016402, GenAtlas:IL20RA, GeneCard:IL20RA, HGNC:HGNC:6003, HumanCyc Gene:HS00376, ModBase:Q9UHF4, NCBI Gene:53832, OMIM:605620, RefSeq DNA:NT_025741, RefSeq Protein:NP_055247, RefSeq RNA:NM_014432, UCSC Genome Browser:NM_014432, UniProtKB:Q9UHF4 No chr6 137321108 137366317 136999971 137045366 +PA29819 53833 HGNC:6004 ENSG00000174564 interleukin 20 receptor subunit beta IL20RB interleukin 20 receptor beta DIRS1, FNDC6, IL-20R2, MGC34923 Yes No Comparative Toxicogenomics Database:53833, Ensembl:ENSG00000174564, GenAtlas:IL20RB, GeneCard:IL20RB, HGNC:HGNC:6004, ModBase:Q6UXL0, NCBI Gene:53833, OMIM:605621, RefSeq DNA:NT_005612, RefSeq Protein:NP_653318, RefSeq RNA:NM_144717, UniProtKB:Q6UXL0 No chr3 136676707 136729927 136957865 137011085 +PA29820 59067 HGNC:6005 ENSG00000138684 interleukin 21 IL21 IL-21, Za11 Yes No Comparative Toxicogenomics Database:59067, Ensembl:ENSG00000138684, GenAtlas:IL21, GeneCard:IL21, HGNC:HGNC:6005, HumanCyc Gene:HS06535, NCBI Gene:59067, OMIM:605384, RefSeq DNA:NT_016354, RefSeq Protein:NP_001193935, RefSeq Protein:NP_068575, RefSeq RNA:NM_001207006, RefSeq RNA:NM_021803, UCSC Genome Browser:NM_021803, UniProtKB:Q9HBE4 No chr4 123533783 123542212 122612628 122621057 +PA29821 50615 HGNC:6006 ENSG00000103522 interleukin 21 receptor IL21R CD360 Yes Yes Comparative Toxicogenomics Database:50615, Ensembl:ENSG00000103522, GenAtlas:IL21R, GeneCard:IL21R, HGNC:HGNC:6006, HumanCyc Gene:HS02517, ModBase:Q9HBE5, NCBI Gene:50615, OMIM:147050, OMIM:605383, RefSeq DNA:NG_012222, RefSeq DNA:NT_010393, RefSeq Protein:NP_068570, RefSeq Protein:NP_851564, RefSeq Protein:NP_851565, RefSeq RNA:NM_021798, RefSeq RNA:NM_181078, RefSeq RNA:NM_181079, UCSC Genome Browser:NM_021798, UniProtKB:Q9HBE5 No chr16 27413483 27463363 27402162 27452045 +PA29822 50616 HGNC:14900 ENSG00000127318 interleukin 22 IL22 IL-10-related T-cell-derived inducible factor IL-21, IL-22, IL-D110, IL-TIF, ILTIF, MGC79382, MGC79384, TIFIL-23, TIFa, zcyto18 Yes No Comparative Toxicogenomics Database:50616, Ensembl:ENSG00000127318, GenAtlas:IL22, GeneCard:IL22, HGNC:HGNC:14900, HumanCyc Gene:HS05082, ModBase:Q9GZX6, NCBI Gene:50616, OMIM:605330, RefSeq DNA:NT_029419, RefSeq Protein:NP_065386, RefSeq RNA:NM_020525, UCSC Genome Browser:NM_020525, UniProtKB:Q9GZX6 No chr12 68642025 68647379 68248245 68253501 +PA29823 58985 HGNC:13700 ENSG00000142677 interleukin 22 receptor subunit alpha 1 IL22RA1 interleukin 22 receptor, alpha 1 CRF2-9, IL22R Yes Yes Ensembl:ENSG00000142677, GeneCard:IL22RA1, HGNC:HGNC:13700, HumanCyc Gene:HS06953, ModBase:Q8N6P7, NCBI Gene:58985, OMIM:605457, RefSeq DNA:NT_004610, RefSeq Protein:NP_067081, RefSeq RNA:NM_021258, UCSC Genome Browser:NM_021258, UniProtKB:Q8N6P7 No chr1 24446261 24469783 24119771 24143285 +PA134983729 116379 HGNC:14901 ENSG00000164485 interleukin 22 receptor subunit alpha 2 IL22RA2 interleukin 22 receptor, alpha 2 CRF2-S1, IL-22BP Yes Yes Ensembl:ENSG00000164485, GeneCard:IL22RA2, HGNC:HGNC:14901, HumanCyc Gene:HS09087, ModBase:Q969J5, NCBI Gene:116379, OMIM:606648, RefSeq DNA:NT_025741, RefSeq Protein:NP_443194, RefSeq Protein:NP_851826, RefSeq Protein:NP_851827, RefSeq RNA:NM_052962, RefSeq RNA:NM_181309, RefSeq RNA:NM_181310, UniProtKB:Q969J5 No chr6 137464957 137494785 137143820 137173648 +PA29824 51561 HGNC:15488 ENSG00000110944 interleukin 23 subunit alpha IL23A """interleukin 23, alpha subunit p19"", ""interleukin-six, G-CSF related factor""" IL-23, IL-23A, IL23P19, P19, SGRF Yes No Comparative Toxicogenomics Database:51561, Ensembl:ENSG00000110944, GenAtlas:IL23A, GeneCard:IL23A, HGNC:HGNC:15488, HumanCyc Gene:HS12732, ModBase:Q9NPF7, NCBI Gene:51561, OMIM:605580, RefSeq DNA:NT_029419, RefSeq Protein:NP_057668, RefSeq RNA:NM_016584, UCSC Genome Browser:NM_016584, UniProtKB:Q9NPF7 No chr12 56732663 56734194 56334159 56340410 +PA134935109 149233 HGNC:19100 ENSG00000162594 interleukin 23 receptor IL23R IL-23R Yes Yes Comparative Toxicogenomics Database:149233, Ensembl:ENSG00000162594, GeneCard:IL23R, HGNC:HGNC:19100, HumanCyc Gene:HS08696, ModBase:Q8IW84, NCBI Gene:149233, OMIM:177900, OMIM:266600, OMIM:607562, OMIM:612261, RefSeq DNA:NG_011498, RefSeq DNA:NT_032977, RefSeq Protein:NP_653302, RefSeq RNA:NM_144701, UniProtKB:Q5VWK5 No chr1 67604590 67725662 67138638 67259979 +PA29825 11009 HGNC:11346 ENSG00000162892 interleukin 24 IL24 IL-4-induced secreted protein, melanoma differentiation association protein 7, suppression of tumorigenicity 16 (melanoma differentiation) C49A, FISP, IL-24, IL10B, Mob-5, ST16, mda-7 Yes No Comparative Toxicogenomics Database:11009, Ensembl:ENSG00000162892, GenAtlas:IL24, GeneCard:IL24, HGNC:HGNC:11346, HumanCyc Gene:HS08753, ModBase:Q13007, NCBI Gene:11009, OMIM:604136, RefSeq DNA:NT_167186, RefSeq Protein:NP_001172085, RefSeq Protein:NP_001172086, RefSeq Protein:NP_001172087, RefSeq Protein:NP_006841, RefSeq Protein:NP_851936, RefSeq RNA:NM_001185156, RefSeq RNA:NM_001185157, RefSeq RNA:NM_001185158, RefSeq RNA:NM_006850, RefSeq RNA:NM_181339, UCSC Genome Browser:NM_006850, UniProtKB:Q13007, UniProtKB:Q2YHE5, UniProtKB:Q53XZ7, UniProtKB:Q5YLN8 No chr1 207070630 207077484 206897404 206904139 +PA29799 64806 HGNC:13765 ENSG00000166090 interleukin 25 IL25 IL-17E, IL-25, IL17E Yes No Ensembl:ENSG00000166090, GenAtlas:IL25, GeneCard:IL25, HGNC:HGNC:13765, HumanCyc Gene:HS09327, ModBase:Q9H293, NCBI Gene:64806, OMIM:605658, RefSeq DNA:NT_026437, RefSeq Protein:NP_073626, RefSeq Protein:NP_758525, RefSeq RNA:NM_022789, RefSeq RNA:NM_172314, UCSC Genome Browser:NM_022789, UniProtKB:Q9H293 No chr14 23842018 23845612 23372809 23376403 +PA29826 55801 HGNC:17119 ENSG00000111536 interleukin 26 IL26 AK155, IL-26 Yes No Ensembl:ENSG00000111536, GenAtlas:IL26, GeneCard:IL26, HGNC:HGNC:17119, HumanCyc Gene:HS03423, ModBase:Q9NPH9, NCBI Gene:55801, OMIM:605679, RefSeq DNA:NT_029419, RefSeq Protein:NP_060872, RefSeq RNA:NM_018402, UCSC Genome Browser:NM_018402, UniProtKB:Q9NPH9 No chr12 68595129 68619571 68201349 68225791 +PA134870478 246778 HGNC:19157 ENSG00000197272 interleukin 27 IL27 IL-27, IL-27A, IL27A, IL27p28, IL30, MGC71873, p28 Yes Yes Ensembl:ENSG00000197272, GeneCard:IL27, HGNC:HGNC:19157, ModBase:Q8NEV9, NCBI Gene:246778, OMIM:608273, RefSeq DNA:NT_010393, RefSeq Protein:NP_663634, RefSeq RNA:NM_145659, UniProtKB:Q8NEV9 No chr16 28510683 28518155 28499362 28526730 +PA134891276 9466 HGNC:17290 ENSG00000104998 interleukin 27 receptor subunit alpha IL27RA """T-cell cytokine receptor type 1"", ""interleukin 27 receptor, alpha""" CRL1, IL-27R, TCCR, WSX-1, WSX1, zcytor1 Yes No Comparative Toxicogenomics Database:9466, Ensembl:ENSG00000104998, GeneCard:IL27RA, HGNC:HGNC:17290, HumanCyc Gene:HS02670, ModBase:Q6UWB1, NCBI Gene:9466, OMIM:605350, RefSeq DNA:NT_011295, RefSeq Protein:NP_004834, RefSeq RNA:NM_004843, UniProtKB:Q6UWB1 No chr19 14142552 14163731 14031740 14052919 +PA29828 3559 HGNC:6008 ENSG00000134460 interleukin 2 receptor subunit alpha IL2RA interleukin 2 receptor, alpha CD25, IDDM10, IL2R Yes Yes Comparative Toxicogenomics Database:3559, Ensembl:ENSG00000134460, GenAtlas:IL2RA, GeneCard:IL2RA, HGNC:HGNC:6008, HumanCyc Gene:HS05873, ModBase:P01589, NCBI Gene:3559, OMIM:147730, OMIM:601942, OMIM:606367, RefSeq DNA:NG_007403, RefSeq DNA:NT_008705, RefSeq Protein:NP_000408, RefSeq RNA:NM_000417, UCSC Genome Browser:NM_000417, UniProtKB:P01589 No chr10 6052657 6104333 6010694 6062370 +PA29829 3560 HGNC:6009 ENSG00000100385 interleukin 2 receptor subunit beta IL2RB interleukin 2 receptor, beta CD122, IL15RB Yes Yes Comparative Toxicogenomics Database:3560, Ensembl:ENSG00000100385, GenAtlas:IL15RB, GenAtlas:IL2RB, GeneCard:IL15RB, GeneCard:IL2RB, HGNC:HGNC:6009, HumanCyc Gene:HS02069, ModBase:P14784, NCBI Gene:3560, OMIM:146710, RefSeq DNA:NT_011520, RefSeq Protein:NP_000869, RefSeq RNA:NM_000878, UCSC Genome Browser:NM_000878, UniProtKB:P14784 No chr22 37521878 37552414 37125838 37149922 +PA196 3561 HGNC:6010 ENSG00000147168 interleukin 2 receptor subunit gamma IL2RG interleukin 2 receptor, gamma CD132, CIDX, IMD4, SCIDX1 Yes No Comparative Toxicogenomics Database:3561, Ensembl:ENSG00000147168, GenAtlas:IL2RG, GeneCard:IL2RG, HGNC:HGNC:6010, HumanCyc Gene:HS07406, ModBase:P31785, NCBI Gene:3561, OMIM:300400, OMIM:308380, OMIM:312863, RefSeq DNA:NG_009088, RefSeq DNA:NT_011669, RefSeq Protein:NP_000197, RefSeq RNA:NM_000206, UCSC Genome Browser:NM_000206, UniProtKB:P31785 No chrX 70327254 70331481 71107404 71111631 +PA29830 3562 HGNC:6011 ENSG00000164399 interleukin 3 IL3 """P-cell stimulating factor"", ""colony-stimulating factor, multiple"", ""hematopoietic growth factor"", ""interleukin 3 (colony-stimulating factor, multiple)"", ""mast-cell growth factor"", ""multilineage-colony-stimulating factor""" IL-3, MCGF, MGC79398, MGC79399, MULTI-CSF Yes Yes Comparative Toxicogenomics Database:3562, Ensembl:ENSG00000164399, GenAtlas:IL3, GeneCard:IL3, HGNC:HGNC:6011, HumanCyc Gene:HS09073, ModBase:P08700, NCBI Gene:3562, OMIM:147740, RefSeq DNA:NT_034772, RefSeq Protein:NP_000579, RefSeq RNA:NM_000588, UCSC Genome Browser:NM_000588, UniProtKB:P08700 No chr5 131396347 131398896 132060654 132063203 +PA134957950 386653 HGNC:19372 ENSG00000204671 interleukin 31 IL31 IL-31 Yes No Ensembl:ENSG00000204671, GeneCard:IL31, HGNC:HGNC:19372, NCBI Gene:386653, OMIM:609509, RefSeq DNA:NT_009755, RefSeq Protein:NP_001014358, RefSeq RNA:NM_001014336, UniProtKB:Q6EBC2 No chr12 122656577 122658746 122172030 122174199 +PA134952624 133396 HGNC:18969 ENSG00000164509 interleukin 31 receptor A IL31RA CRL, CRL3, GLM-R, Glmr, IL-31RA Yes No Ensembl:ENSG00000164509, GeneCard:IL31RA, HGNC:HGNC:18969, HumanCyc Gene:HS09089, ModBase:Q8WYJ0, NCBI Gene:133396, OMIM:609510, RefSeq DNA:NT_006713, RefSeq Protein:NP_001229565, RefSeq Protein:NP_001229566, RefSeq Protein:NP_001229567, RefSeq Protein:NP_001229568, RefSeq Protein:NP_620586, RefSeq RNA:NM_001242636, RefSeq RNA:NM_001242637, RefSeq RNA:NM_001242638, RefSeq RNA:NM_001242639, RefSeq RNA:NM_139017, UniProtKB:Q8NI17 No chr5 55147207 55218682 55840334 55922854 +PA128395754 9235 HGNC:16830 ENSG00000008517 interleukin 32 IL32 natural killer cell transcript 4 NK4, TAIF, TAIFb, TAIFd Yes No Comparative Toxicogenomics Database:9235, Ensembl:ENSG00000008517, GeneCard:IL32, HGNC:HGNC:16830, HumanCyc Gene:HS00252, NCBI Gene:9235, OMIM:606001, RefSeq DNA:NT_010393, RefSeq Protein:NP_001012649, RefSeq Protein:NP_001012650, RefSeq Protein:NP_001012651, RefSeq Protein:NP_001012652, RefSeq Protein:NP_001012653, RefSeq Protein:NP_001012654, RefSeq Protein:NP_001012736, RefSeq Protein:NP_004212, RefSeq RNA:NM_001012631, RefSeq RNA:NM_001012632, RefSeq RNA:NM_001012633, RefSeq RNA:NM_001012634, RefSeq RNA:NM_001012635, RefSeq RNA:NM_001012636, RefSeq RNA:NM_001012718, RefSeq RNA:NM_004221, UCSC Genome Browser:NM_004221, UniProtKB:A6NNM0, UniProtKB:A8MPX0, UniProtKB:P24001 No chr16 3115313 3119668 3065312 3069819 +PA162392005 90865 HGNC:16028 ENSG00000137033 interleukin 33 IL33 """DVS27-related protein"", ""interleukin-1 family, member 11"", ""nuclear factor for high endothelial venules""" C9orf26, DKFZp586H0523, DVS27, IL1F11, NF-HEV Yes No Ensembl:ENSG00000137033, GeneCard:IL33, HGNC:HGNC:16028, HumanCyc Gene:HS13653, ModBase:O95760, NCBI Gene:90865, OMIM:608678, RefSeq DNA:NT_008413, RefSeq Protein:NP_001186569, RefSeq Protein:NP_001186570, RefSeq Protein:NP_254274, RefSeq RNA:NM_001199640, RefSeq RNA:NM_001199641, RefSeq RNA:NM_033439, UniProtKB:O95760 No chr9 6215149 6257983 6214591 6257983 +PA162392024 146433 HGNC:28529 ENSG00000157368 interleukin 34 IL34 C16orf77, IL-34, MGC34647 Yes No Ensembl:ENSG00000157368, GeneCard:IL34, HGNC:HGNC:28529, HumanCyc Gene:HS14658, NCBI Gene:146433, OMIM:612081, RefSeq DNA:NT_010498, RefSeq Protein:NP_001166242, RefSeq Protein:NP_001166243, RefSeq Protein:NP_689669, RefSeq RNA:NM_001172771, RefSeq RNA:NM_001172772, RefSeq RNA:NM_152456, UniProtKB:Q6ZMJ4 No chr16 70613798 70694585 70579895 70660682 +PA38389 27179 HGNC:15562 ENSG00000136694 interleukin 36 alpha IL36A interleukin 36, alpha FIL1, FIL1E, IL-1F6, IL1(EPSILON), IL1F6, MGC129552, MGC129553 Yes No Ensembl:ENSG00000136694, GenAtlas:IL1F6, GeneCard:IL1F6, HGNC:HGNC:15562, HumanCyc Gene:HS06196, ModBase:Q9UHA7, NCBI Gene:27179, OMIM:605509, RefSeq DNA:NT_022135, RefSeq Protein:NP_055255, RefSeq RNA:NM_014440, UCSC Genome Browser:NM_014440, UniProtKB:Q9UHA7 No chr2 113763038 113766221 113005461 113011071 +PA38391 27177 HGNC:15564 ENSG00000136696 interleukin 36 beta IL36B interleukin 36, beta FIL1, FILI-(ETA), IL-1F8, IL-1H2, IL1-ETA, IL1F8, IL1H2, MGC126880, MGC126882 Yes No Comparative Toxicogenomics Database:27177, Ensembl:ENSG00000136696, GenAtlas:IL1F8, GeneCard:IL1F8, HGNC:HGNC:15564, HumanCyc Gene:HS06198, ModBase:Q9NZH7, NCBI Gene:27177, OMIM:605508, RefSeq DNA:NT_022135, RefSeq Protein:NP_055253, RefSeq Protein:NP_775270, RefSeq RNA:NM_014438, RefSeq RNA:NM_173178, UCSC Genome Browser:NM_014438, UniProtKB:Q9NZH7 No chr2 113779668 113810444 113022091 113052867 +PA38395 56300 HGNC:15741 ENSG00000136688 interleukin 36 gamma IL36G """interleukin 1-related protein 2"", ""interleukin 36, gamma"", ""interleukin-1 epsilon"", ""interleukin-1 homolog 1""" IL-1F9, IL-1H1, IL-1RP2, IL1E, IL1F9, IL1H1 Yes No Ensembl:ENSG00000136688, GenAtlas:IL1F9, GeneCard:IL1F9, HGNC:HGNC:15741, HumanCyc Gene:HS06194, ModBase:Q9NZH8, NCBI Gene:56300, OMIM:605542, RefSeq DNA:NT_022135, RefSeq Protein:NP_062564, RefSeq RNA:NM_019618, UCSC Genome Browser:NM_019618, UniProtKB:Q9NZH8 No chr2 113735596 113743249 112978019 112985672 +PA38388 26525 HGNC:15561 ENSG00000136695 interleukin 36 receptor antagonist IL36RN IL-1 related protein 3, family of interleukin 1-delta, interleukin-1 HY1, interleukin-1 receptor antagonist homolog 1 FIL1, FIL1(DELTA), FIL1D, IL-1F5, IL1F5, IL1HY1, IL1L1, IL1RP3, IL36RA, MGC29840 Yes No Comparative Toxicogenomics Database:26525, Ensembl:ENSG00000136695, GenAtlas:IL1F5, GeneCard:IL1F5, HGNC:HGNC:15561, HumanCyc Gene:HS06197, ModBase:Q9UBH0, NCBI Gene:26525, OMIM:605507, RefSeq DNA:NT_022135, RefSeq Protein:NP_036407, RefSeq Protein:NP_775262, RefSeq RNA:NM_012275, RefSeq RNA:NM_173170, UCSC Genome Browser:NM_012275, UniProtKB:Q9UBH0 No chr2 113816215 113822321 113058638 113064744 +PA38390 27178 HGNC:15563 ENSG00000125571 interleukin 37 IL37 """interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein""" FIL1, FIL1(ZETA), FIL1Z, IL-1F7, IL-1H4, IL-1RP1, IL1F7 Yes No Ensembl:ENSG00000125571, GenAtlas:IL1F7, GeneCard:IL1F7, HGNC:HGNC:15563, HumanCyc Gene:HS04905, ModBase:Q9NZH6, NCBI Gene:27178, OMIM:605510, RefSeq DNA:NT_022135, RefSeq Protein:NP_055254, RefSeq Protein:NP_775294, RefSeq Protein:NP_775295, RefSeq Protein:NP_775296, RefSeq Protein:NP_775297, RefSeq RNA:NM_014439, RefSeq RNA:NM_173202, RefSeq RNA:NM_173203, RefSeq RNA:NM_173204, RefSeq RNA:NM_173205, UCSC Genome Browser:NM_014439, UniProtKB:Q9NZH6 No chr2 113670548 113676459 112908889 112918882 +PA29831 3563 HGNC:6012 ENSG00000185291 interleukin 3 receptor subunit alpha IL3RA interleukin 3 receptor, alpha (low affinity) CD123 Yes No Comparative Toxicogenomics Database:3563, Ensembl:ENSG00000185291, GenAtlas:IL3RA, GeneCard:IL3RA, HGNC:HGNC:6012, ModBase:P26951, NCBI Gene:3563, OMIM:308385, OMIM:430000, RefSeq DNA:NT_167196, RefSeq DNA:NT_167204, RefSeq Protein:NP_002174, RefSeq RNA:NM_002183, UCSC Genome Browser:NM_002183, UniProtKB:P26951 No chrX 1455488 1501582 1336575 1382689 +PA197 3565 HGNC:6014 ENSG00000113520 interleukin 4 IL4 B cell growth factor 1, B_cell stimulatory factor 1, lymphocyte stimulatory factor 1 BCGF-1, BCGF1, BSF1, IL-4, MGC79402 Yes Yes Comparative Toxicogenomics Database:3565, Ensembl:ENSG00000113520, GenAtlas:IL4, GeneCard:IL4, HGNC:HGNC:6014, HumanCyc Gene:HS03688, ModBase:P05112, NCBI Gene:3565, OMIM:147780, RefSeq DNA:NG_023252, RefSeq DNA:NT_034772, RefSeq Protein:NP_000580, RefSeq Protein:NP_758858, RefSeq RNA:NM_000589, RefSeq RNA:NM_172348, UCSC Genome Browser:NM_000589, UniProtKB:P05112, UniProtKB:Q5FC01 No chr5 132009678 132018370 132673986 132682678 +PA38795 259307 HGNC:19094 ENSG00000104951 interleukin 4 induced 1 IL4I1 L-amino-acid oxidase FIG1 Yes No Comparative Toxicogenomics Database:259307, Ensembl:ENSG00000104951, GenAtlas:IL4I1, GeneCard:IL4I1, HGNC:HGNC:19094, ModBase:Q96RQ9, NCBI Gene:259307, OMIM:609742, RefSeq DNA:NG_021170, RefSeq DNA:NT_011109, RefSeq Protein:NP_690863, RefSeq Protein:NP_758962, RefSeq RNA:NM_152899, RefSeq RNA:NM_172374, UCSC Genome Browser:NM_152899, UniProtKB:Q1WMJ3, UniProtKB:Q96RQ9 No chr19 50392911 50432796 49889654 49929539 +PA29832 3566 HGNC:6015 ENSG00000077238 interleukin 4 receptor IL4R interleukin 13 receptor CD124 Yes Yes Comparative Toxicogenomics Database:3566, Ensembl:ENSG00000077238, GenAtlas:IL4R, GeneCard:IL4R, HGNC:HGNC:6015, HumanCyc Gene:HS01236, ModBase:Q9H187, NCBI Gene:3566, OMIM:147050, OMIM:147781, OMIM:609423, RefSeq DNA:NG_012086, RefSeq DNA:NT_010393, RefSeq Protein:NP_000409, RefSeq Protein:NP_001008699, RefSeq RNA:NM_000418, RefSeq RNA:NM_001008699, UCSC Genome Browser:NM_000418, UniProtKB:P24394 No chr16 27325161 27376099 27313668 27364778 +PA29833 3567 HGNC:6016 ENSG00000113525 interleukin 5 IL5 """B cell differentiation factor I"", ""T-cell replacing factor"", ""colony-stimulating factor, eosinophil"", ""eosinophil differentiation factor"", ""interleukin 5 (colony-stimulating factor, eosinophil)"", ""interleukin-5""" EDF, IL-5, TRF Yes Yes Comparative Toxicogenomics Database:3567, Ensembl:ENSG00000113525, GenAtlas:IL5, GeneCard:IL5, HGNC:HGNC:6016, HumanCyc Gene:HS03690, NCBI Gene:3567, OMIM:147850, RefSeq DNA:NT_034772, RefSeq Protein:NP_000870, RefSeq RNA:NM_000879, UCSC Genome Browser:NM_000879, UniProtKB:P05113 No chr5 131877136 131892555 132539194 132556827 +PA29834 3568 HGNC:6017 ENSG00000091181 interleukin 5 receptor subunit alpha IL5RA interleukin 5 receptor, alpha CD125, CDw125, IL5R Yes No Comparative Toxicogenomics Database:3568, Ensembl:ENSG00000091181, GenAtlas:IL5RA, GeneCard:IL5RA, HGNC:HGNC:6017, HumanCyc Gene:HS01729, ModBase:Q01344, NCBI Gene:3568, OMIM:147851, RefSeq DNA:NT_022517, RefSeq Protein:NP_000555, RefSeq Protein:NP_783851, RefSeq Protein:NP_783852, RefSeq Protein:NP_783853, RefSeq Protein:NP_783854, RefSeq Protein:NP_783855, RefSeq RNA:NM_000564, RefSeq RNA:NM_175724, RefSeq RNA:NM_175725, RefSeq RNA:NM_175726, RefSeq RNA:NM_175727, RefSeq RNA:NM_175728, UCSC Genome Browser:NM_000564, UniProtKB:Q01344, UniProtKB:Q14632, UniProtKB:Q8NHV7 No chr3 3108008 3152058 3066324 3110414 +PA198 3569 HGNC:6018 ENSG00000136244 interleukin 6 IL6 """interferon, beta 2"", ""interleukin 6 (interferon, beta 2)""" BSF2, HGF, HSF, IFNB2, IL-6 Yes Yes Comparative Toxicogenomics Database:3569, Ensembl:ENSG00000136244, GenAtlas:IL6, GeneCard:IL6, HGNC:HGNC:6018, HumanCyc Gene:HS06137, ModBase:P05231, NCBI Gene:3569, OMIM:108010, OMIM:125853, OMIM:147620, OMIM:148000, OMIM:166710, OMIM:266600, OMIM:604302, RefSeq DNA:NG_011640, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000591, RefSeq RNA:NM_000600, UCSC Genome Browser:NM_000600, UniProtKB:B4DVM1, UniProtKB:P05231, UniProtKB:Q75MH2 No chr7 22766766 22771621 22725889 22732002 +PA29835 3570 HGNC:6019 ENSG00000160712 interleukin 6 receptor IL6R interleukin 6 receptor subunit alpha, membrane glycoprotein 80 CD126, IL-1Ra, IL-6R, IL6RA, gp80 Yes Yes Comparative Toxicogenomics Database:3570, Ensembl:ENSG00000160712, GenAtlas:IL6R, GeneCard:IL6R, HGNC:HGNC:6019, HumanCyc Gene:HS08524, ModBase:P08887, NCBI Gene:3570, OMIM:147880, RefSeq DNA:NG_012087, RefSeq DNA:NT_004487, RefSeq Protein:NP_000556, RefSeq Protein:NP_001193795, RefSeq Protein:NP_852004, RefSeq RNA:NM_000565, RefSeq RNA:NM_001206866, RefSeq RNA:NM_181359, UCSC Genome Browser:NM_000565, UniProtKB:A0N0L5, UniProtKB:P08887 No chr1 154377669 154441926 154405193 154469450 +PA29836 157916 HGNC:6020 ENSG00000234910 interleukin 6 receptor pseudogene 1 IL6RP1 Yes No Ensembl:ENSG00000234910, GenAtlas:IL6RL1, GeneCard:IL6RP1, HGNC:HGNC:6020, NCBI Gene:157916, RefSeq DNA:NG_002785, RefSeq DNA:NT_008470 No chr9 92843463 92845018 90081181 90082736 +PA29837 3572 HGNC:6021 ENSG00000134352 interleukin 6 cytokine family signal transducer IL6ST """Interleukin-6 receptor subunit beta"", ""gp130, oncostatin M receptor"", ""interleukin 6 signal transducer"", ""interleukin 6 signal transducer (gp130, oncostatin M receptor)"", ""membrane glycoprotein 130""" CD130, GP130, IL-6RB, sGP130 Yes Yes Comparative Toxicogenomics Database:3572, Ensembl:ENSG00000134352, GenAtlas:IL6ST, GeneCard:IL6ST, HGNC:HGNC:6021, HumanCyc Gene:HS05859, ModBase:P40189, NCBI Gene:3572, OMIM:600694, RefSeq DNA:NT_006713, RefSeq Protein:NP_001177910, RefSeq Protein:NP_002175, RefSeq Protein:NP_786943, RefSeq RNA:NM_001190981, RefSeq RNA:NM_002184, RefSeq RNA:NM_175767, UCSC Genome Browser:NM_002184, UniProtKB:P40189 No chr5 55230923 55290821 55935095 55994993 +PA29838 3573 HGNC:6022 ENSG00000227018 interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene 1 IL6STP1 Yes No Ensembl:ENSG00000227018, GenAtlas:IL6STP, GeneCard:IL6STP1, HGNC:HGNC:6022, NCBI Gene:3573, RefSeq DNA:NG_002748, RefSeq DNA:NT_010718 No chr17 15686308 15694947 15782922 15791633 +PA29839 3574 HGNC:6023 ENSG00000104432 interleukin 7 IL7 IL-7 Yes Yes Comparative Toxicogenomics Database:3574, Ensembl:ENSG00000104432, GenAtlas:IL7, GeneCard:IL7, HGNC:HGNC:6023, HumanCyc Gene:HS02582, ModBase:P13232, NCBI Gene:3574, OMIM:146660, RefSeq DNA:NT_008183, RefSeq Protein:NP_000871, RefSeq Protein:NP_001186815, RefSeq Protein:NP_001186816, RefSeq Protein:NP_001186817, RefSeq RNA:NM_000880, RefSeq RNA:NM_001199886, RefSeq RNA:NM_001199887, RefSeq RNA:NM_001199888, UCSC Genome Browser:NM_000880, UniProtKB:P13232 No chr8 79645007 79717758 78675870 78805523 +PA29840 3575 HGNC:6024 ENSG00000168685 interleukin 7 receptor IL7R Interleukin-7 receptor subunit alpha, soluble interleukin-7 receptor CD127, CDw127, IL-7Ralpha, IL7RA, IL7Ralpha, lnc-IL7R, sIL-7R Yes Yes Comparative Toxicogenomics Database:3575, Ensembl:ENSG00000168685, GenAtlas:IL7R, GeneCard:IL7R, HGNC:HGNC:6024, HumanCyc Gene:HS09805, ModBase:Q6NWM3, NCBI Gene:3575, OMIM:126200, OMIM:146661, OMIM:600802, OMIM:608971, RefSeq DNA:NG_009567, RefSeq DNA:NT_006576, RefSeq Protein:NP_002176, RefSeq RNA:NM_002185, UCSC Genome Browser:NM_002185, UniProtKB:P16871 No chr5 35856977 35879705 35856875 35879603 +PA29845 3578 HGNC:6029 ENSG00000145839 interleukin 9 IL9 T-cell growth factor p40, homolog of mouse T cell and mast cell growth factor 40, p40 T-cell and mast cell growth factor, p40 cytokine HP40, IL-9, P40 Yes Yes Comparative Toxicogenomics Database:3578, Ensembl:ENSG00000145839, GenAtlas:IL9, GeneCard:IL9, HGNC:HGNC:6029, HumanCyc Gene:HS07292, NCBI Gene:3578, OMIM:146931, RefSeq DNA:NT_034772, RefSeq Protein:NP_000581, RefSeq RNA:NM_000590, UCSC Genome Browser:NM_000590, UniProtKB:P15248 No chr5 135227935 135231516 135892246 135895827 +PA29846 3581 HGNC:6030 ENSG00000124334 interleukin 9 receptor IL9R CD129 Yes No Comparative Toxicogenomics Database:3581, Ensembl:ENSG00000124334, GenAtlas:IL9R, GeneCard:IL9R, HGNC:HGNC:6030, HumanCyc Gene:HS04760, ModBase:Q01113, NCBI Gene:3581, OMIM:300007, RefSeq DNA:NG_013238, RefSeq DNA:NT_167198, RefSeq DNA:NT_167206, RefSeq Protein:NP_002177, RefSeq RNA:NM_002186, RefSeq RNA:NR_024033, UCSC Genome Browser:NM_002186, UniProtKB:Q01113 No chrX 155227246 155240482 155997581 156013017 +PA29847 100128449 HGNC:6031 ENSG00000229926 interleukin 9 receptor pseudogene 1 IL9RP1 Yes No Ensembl:ENSG00000229926, GenAtlas:IL9RP1, GeneCard:IL9RP1, HGNC:HGNC:6031, NCBI Gene:100128449 No chr9 141032081 141036062 138137629 138141610 +PA29848 439945 HGNC:6032 ENSG00000232420 interleukin 9 receptor pseudogene 2 IL9RP2 Yes No Ensembl:ENSG00000232420, GenAtlas:IL9RP2, GeneCard:IL9RP2, HGNC:HGNC:6032, NCBI Gene:439945, RefSeq DNA:NG_009864, RefSeq DNA:NT_008705 No chr10 125916 132183 79976 86243 +PA29849 729486 HGNC:6033 ENSG00000226942 interleukin 9 receptor pseudogene 3 IL9RP3 Yes No Ensembl:ENSG00000226942, GenAtlas:IL9RP3, GeneCard:IL9RP3, HGNC:HGNC:6033, NCBI Gene:729486, RefSeq DNA:NG_009865, RefSeq DNA:NT_010393 No chr16 78928 86491 28928 36491 +PA29850 100132166 HGNC:6034 ENSG00000262081 interleukin 9 receptor pseudogene 4 IL9RP4 Yes No Ensembl:ENSG00000262081, GenAtlas:IL9RP4, GeneCard:IL9RP4, HGNC:HGNC:6034, NCBI Gene:100132166, RefSeq DNA:NG_002764, RefSeq DNA:NT_010859 No chr18 79721 88561 79721 88561 +PA134883110 286676 HGNC:28741 ENSG00000145103 immunoglobulin like domain containing receptor 1 ILDR1 angulin-2, immunoglobulin-like domain containing receptor 1 DFNB42, MGC50831 Yes No Comparative Toxicogenomics Database:286676, Ensembl:ENSG00000145103, GeneCard:ILDR1, HGNC:HGNC:28741, NCBI Gene:286676, OMIM:609739, RefSeq DNA:NT_005612, RefSeq Protein:NP_001186728, RefSeq Protein:NP_001186729, RefSeq Protein:NP_787120, RefSeq RNA:NM_001199799, RefSeq RNA:NM_001199800, RefSeq RNA:NM_175924, UniProtKB:Q86SU0 No chr3 121706170 121741127 121987323 122060554 +PA164720916 387597 HGNC:18131 ENSG00000143195 immunoglobulin like domain containing receptor 2 ILDR2 LISCH-like, angulin-3, immunoglobulin-like domain containing receptor 2 C1orf32 Yes No Ensembl:ENSG00000143195, GeneCard:ILDR2, HGNC:HGNC:18131, NCBI Gene:387597, RefSeq DNA:NT_004487, RefSeq Protein:NP_955383, RefSeq RNA:NM_199351, UniProtKB:Q71H61 No chr1 166882441 166944576 166913204 166975324 +PA29852 3608 HGNC:6037 ENSG00000143621 interleukin enhancer binding factor 2 ILF2 NF45 Yes No Comparative Toxicogenomics Database:3608, Ensembl:ENSG00000143621, GenAtlas:ILF2, GeneCard:ILF2, HGNC:HGNC:6037, HumanCyc Gene:HS07086, ModBase:Q12905, NCBI Gene:3608, OMIM:603181, RefSeq DNA:NT_004487, RefSeq Protein:NP_004506, RefSeq RNA:NM_004515, UCSC Genome Browser:NM_004515, UniProtKB:Q12905 No chr1 153634264 153643504 153661788 153671028 +PA29853 3609 HGNC:6038 ENSG00000129351 interleukin enhancer binding factor 3 ILF3 """M phase phosphoprotein 4, nuclear factor associated with DS RNA"", ""M-phase phosphoprotein 4"", ""double-stranded RNA-binding protein, 76 kD"", ""dsRNA binding protein NFAR-2/MPP4"", ""interleukin enhancer binding factor 3, 90kDa"", ""nuclear factor of activated T-cells 110 kDa"", ""nuclear factor of activated T-cells 90 kDa"", ""translational control protein 80""" DRBP76, MPHOSPH4, MPP4, MPP4110, NF110, NF110b, NF90, NF90a, NF90c, NF90ctv, NFAR-1, NFAR-2, NFAR110, NFAR90, TCP110 Yes Yes Comparative Toxicogenomics Database:3609, Ensembl:ENSG00000129351, GenAtlas:ILF3, GeneCard:ILF3, HGNC:HGNC:6038, HumanCyc Gene:HS05271, ModBase:Q9NQA2, NCBI Gene:3609, OMIM:603182, RefSeq DNA:NT_011295, RefSeq Protein:NP_001131145, RefSeq Protein:NP_004507, RefSeq Protein:NP_036350, RefSeq Protein:NP_060090, RefSeq Protein:NP_703194, RefSeq RNA:NM_001137673, RefSeq RNA:NM_004516, RefSeq RNA:NM_012218, RefSeq RNA:NM_017620, RefSeq RNA:NM_153464, UCSC Genome Browser:NM_004516, UniProtKB:Q12906 No chr19 10764937 10803095 10654261 10692419 +PA29855 3611 HGNC:6040 ENSG00000166333 integrin linked kinase ILK integrin-linked kinase Yes No Comparative Toxicogenomics Database:3611, Ensembl:ENSG00000166333, GenAtlas:ILK, GeneCard:ILK, HGNC:HGNC:6040, HumanCyc Gene:HS09377, ModBase:Q13418, NCBI Gene:3611, OMIM:602366, RefSeq DNA:NT_009237, RefSeq Protein:NP_001014794, RefSeq Protein:NP_001014795, RefSeq Protein:NP_004508, RefSeq RNA:NM_001014794, RefSeq RNA:NM_001014795, RefSeq RNA:NM_004517, UCSC Genome Browser:NM_004517, UniProtKB:Q13418 No chr11 6624938 6632105 6603708 6610874 +PA29856 80895 HGNC:15566 ENSG00000132323 ILK associated serine/threonine phosphatase ILKAP """integrin-linked kinase-associated serine/threonine phosphatase"", ""protein phosphatase, Mg2+/Mn2+ dependent 1O""" DKFZP434J2031, FLJ10181, PPM1O Yes Yes Comparative Toxicogenomics Database:80895, Ensembl:ENSG00000132323, GenAtlas:ILKAP, GeneCard:ILKAP, HGNC:HGNC:15566, HumanCyc Gene:HS05617, ModBase:Q9H0C8, NCBI Gene:80895, RefSeq DNA:NT_005120, RefSeq Protein:NP_110395, RefSeq RNA:NM_030768, UCSC Genome Browser:NM_030768, UniProtKB:Q9H0C8 No chr2 239079043 239112343 238170401 238203702 +PA134935866 64771 HGNC:21215 ENSG00000196821 inflammation and lipid regulator with UBA-like and NBR1-like domains ILRUN chromosome 6 open reading frame 106 C6orf106, FLJ22195, dJ391O22.4 Yes No Comparative Toxicogenomics Database:64771, Ensembl:ENSG00000196821, GeneCard:C6orf106, HGNC:HGNC:21215, ModBase:Q9H6K1, NCBI Gene:64771, OMIM:612217, RefSeq DNA:NT_007592, RefSeq Protein:NP_073595, RefSeq Protein:NP_077270, RefSeq RNA:NM_022758, RefSeq RNA:NM_024294, UniProtKB:Q9H6K1 No chr6 34555065 34664625 34587280 34696850 +PA29857 10994 HGNC:6041 ENSG00000105135 ilvB acetolactate synthase like ILVBL 2-hydroxyacyl-CoA lyase 1 like, acetolactate synthase homolog, ilvB (bacterial acetolactate synthase)-like 209L8, AHAS, FLJ39061, HACL1L, HACL2, ILV2H, MGC1269, MGC19535 Yes No Comparative Toxicogenomics Database:10994, Ensembl:ENSG00000105135, GenAtlas:ILVBL, GeneCard:ILVBL, HGNC:HGNC:6041, HumanCyc Gene:HS02678, ModBase:A1L0T0, NCBI Gene:10994, OMIM:605770, RefSeq DNA:NT_011295, RefSeq Protein:NP_006835, RefSeq RNA:NM_006844, UCSC Genome Browser:NM_006844, UniProtKB:A1L0T0 No chr19 15225785 15236610 15114974 15125799 +PA142671655 196294 HGNC:26317 ENSG00000148950 inner mitochondrial membrane peptidase subunit 1 IMMP1L IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) FLJ25059, IMMP1 Yes No Ensembl:ENSG00000148950, GeneCard:IMMP1L, HGNC:HGNC:26317, HumanCyc Gene:HS07574, ModBase:Q96LU5, NCBI Gene:196294, OMIM:612323, RefSeq DNA:NT_009237, RefSeq Protein:NP_659418, RefSeq RNA:NM_144981, UniProtKB:Q96LU5 No chr11 31453948 31531169 31432399 31509644 +PA134887258 83943 HGNC:14598 ENSG00000184903 inner mitochondrial membrane peptidase subunit 2 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) IMMP2L-IT1, IMP2 Yes No Comparative Toxicogenomics Database:83943, Ensembl:ENSG00000184903, GeneCard:IMMP2L, HGNC:HGNC:14598, ModBase:Q96T52, NCBI Gene:83943, OMIM:605977, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_115938, RefSeq RNA:NM_032549, UniProtKB:A4D0S9, UniProtKB:Q96T52 No chr7 110303106 111202588 110662645 111562531 +PA29858 10989 HGNC:6047 ENSG00000132305 inner membrane mitochondrial protein IMMT """heart muscle protein"", ""inner membrane protein, mitochondrial"", ""mitochondrial contact site and cristae organizing system subunit 60"", ""mitochondrial inner membrane organizing system 2"", ""mitofilin""" HMP, MICOS60, MINOS2, Mic60, P87, P89 Yes No Comparative Toxicogenomics Database:10989, Ensembl:ENSG00000132305, GenAtlas:IMMT, GeneCard:IMMT, HGNC:HGNC:6047, HumanCyc Gene:HS13421, ModBase:Q9P0V2, NCBI Gene:10989, OMIM:600378, RefSeq DNA:NT_022184, RefSeq Protein:NP_001093639, RefSeq Protein:NP_001093640, RefSeq Protein:NP_006830, RefSeq RNA:NM_001100169, RefSeq RNA:NM_001100170, RefSeq RNA:NM_006839, UCSC Genome Browser:NM_006839, UniProtKB:Q16891 No chr2 86371055 86423264 86143932 86195770 +PA29859 54045 HGNC:6048 ENSG00000229880 inner membrane protein, mitochondrial (mitofilin) pseudogene 1 IMMTP1 Yes No Ensembl:ENSG00000229880, GenAtlas:IMMTP, GeneCard:IMMTP1, HGNC:HGNC:6048, NCBI Gene:54045, RefSeq DNA:NG_000919, RefSeq DNA:NT_011515 No chr21 46095445 46098082 44675528 44678165 +PA25517 55272 HGNC:14497 ENSG00000177971 IMP U3 small nucleolar ribonucleoprotein 3 IMP3 """IMP3, U3 small nucleolar ribonucleoprotein"", ""IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)""" BRMS2, C15orf12, FLJ10968, MRPS4 Yes No Comparative Toxicogenomics Database:55272, Ensembl:ENSG00000177971, GenAtlas:IMP3, GeneCard:IMP3, HGNC:HGNC:14497, HumanCyc Gene:HS11234, ModBase:Q9NV31, NCBI Gene:55272, OMIM:612980, RefSeq DNA:NT_010194, RefSeq Protein:NP_060755, RefSeq RNA:NM_018285, UCSC Genome Browser:NM_018285, UniProtKB:Q9NV31 No chr15 75931426 75941047 75639085 75640323 +PA142671656 92856 HGNC:30856 ENSG00000136718 IMP U3 small nucleolar ribonucleoprotein 4 IMP4 """IMP4, U3 small nucleolar ribonucleoprotein"", ""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)""" BXDC4, MGC19606 Yes No Comparative Toxicogenomics Database:92856, Ensembl:ENSG00000136718, GeneCard:IMP4, HGNC:HGNC:30856, HumanCyc Gene:HS13637, ModBase:Q96G21, NCBI Gene:92856, OMIM:612981, RefSeq DNA:NT_022135, RefSeq Protein:NP_219484, RefSeq RNA:NM_033416, UniProtKB:Q3ZTT3, UniProtKB:Q96G21 No chr2 131100470 131104197 130342225 130347961 +PA29860 3612 HGNC:6050 ENSG00000133731 inositol monophosphatase 1 IMPA1 inositol(myo)-1(or 4)-monophosphatase 1, myo-inositol monophosphatase 1 IMPA Yes No Comparative Toxicogenomics Database:3612, Ensembl:ENSG00000133731, GenAtlas:IMPA1, GeneCard:IMPA1, HGNC:HGNC:6050, HumanCyc Gene:HS05783, ModBase:P29218, NCBI Gene:3612, OMIM:602064, RefSeq DNA:NG_015829, RefSeq DNA:NT_008183, RefSeq Protein:NP_001138350, RefSeq Protein:NP_001138351, RefSeq Protein:NP_005527, RefSeq RNA:NM_001144878, RefSeq RNA:NM_001144879, RefSeq RNA:NM_005536, UCSC Genome Browser:NM_005536, UniProtKB:B4DLN3, UniProtKB:B7Z6Q4, UniProtKB:P29218 No chr8 82569151 82599029 81656916 81686354 +PA29861 3613 HGNC:6051 ENSG00000141401 inositol monophosphatase 2 IMPA2 inositol(myo)-1(or 4)-monophosphatase 2, myo-inositol monophosphatase 2 Yes Yes Comparative Toxicogenomics Database:3613, Ensembl:ENSG00000141401, GenAtlas:IMPA2, GeneCard:IMPA2, HGNC:HGNC:6051, HumanCyc Gene:HS06822, ModBase:O14732, NCBI Gene:3613, OMIM:605922, RefSeq DNA:NT_010859, RefSeq Protein:NP_055029, RefSeq RNA:NM_014214, UCSC Genome Browser:NM_014214, UniProtKB:O14732 No chr18 11981427 12030885 11981428 12030886 +PA143485502 55364 HGNC:20387 ENSG00000154059 impact RWD domain protein IMPACT RWD domain containing 5 RWDD5 Yes No Comparative Toxicogenomics Database:55364, Ensembl:ENSG00000154059, GeneCard:IMPACT, HGNC:HGNC:20387, HumanCyc Gene:HS07945, ModBase:Q9P2X3, NCBI Gene:55364, RefSeq DNA:NT_010966, RefSeq Protein:NP_060909, RefSeq RNA:NM_018439, UniProtKB:Q9P2X3 No chr18 22006609 22033499 24426645 24453531 +PA29862 3614 HGNC:6052 ENSG00000106348 inosine monophosphate dehydrogenase 1 IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 LCA11, RP10, sWSS2608 Yes Yes Comparative Toxicogenomics Database:3614, Ensembl:ENSG00000106348, GenAtlas:IMPDH1, GeneCard:IMPDH1, HGNC:HGNC:6052, HumanCyc Gene:HS02896, ModBase:P20839, NCBI Gene:3614, OMIM:146690, OMIM:180105, RefSeq DNA:NG_009194, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_000874, RefSeq Protein:NP_001096075, RefSeq Protein:NP_001136045, RefSeq Protein:NP_001136046, RefSeq Protein:NP_001136047, RefSeq Protein:NP_001136048, RefSeq Protein:NP_899066, RefSeq RNA:NM_000883, RefSeq RNA:NM_001102605, RefSeq RNA:NM_001142573, RefSeq RNA:NM_001142574, RefSeq RNA:NM_001142575, RefSeq RNA:NM_001142576, RefSeq RNA:NM_183243, UCSC Genome Browser:NM_000883, UniProtKB:A4D0Z6, UniProtKB:B3KRZ3, UniProtKB:B3KVM8, UniProtKB:B4DE09, UniProtKB:C9JV30, UniProtKB:P20839 No chr7 128032331 128050045 128392277 128409988 +PA142671658 340499 HGNC:19912 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 1 IMPDH1P1 bA537H15.4 Yes No GeneCard:IMPDH1P1, HGNC:HGNC:19912, NCBI Gene:340499, RefSeq DNA:NG_005146, RefSeq DNA:NT_008413 No chr9 34132457 34134793 34132459 34134795 +PA164720917 100874399 HGNC:33965 ENSG00000232133 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 10 IMPDH1P10 Yes No Ensembl:ENSG00000232133, HGNC:HGNC:33965, NCBI Gene:100874399 No chr2 202002242 202003725 201137319 201139003 +PA29863 3615 HGNC:6053 ENSG00000178035 inosine monophosphate dehydrogenase 2 IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2 Yes Yes Comparative Toxicogenomics Database:3615, Ensembl:ENSG00000178035, GenAtlas:IMPDH2, GeneCard:IMPDH2, HGNC:HGNC:6053, HumanCyc Gene:HS11242, ModBase:P12268, NCBI Gene:3615, OMIM:146691, RefSeq DNA:NG_012091, RefSeq DNA:NT_022517, RefSeq Protein:NP_000875, RefSeq RNA:NM_000884, UCSC Genome Browser:NM_000884, UniProtKB:P12268 No chr3 49061758 49066875 49024325 49029750 +PA29865 3617 HGNC:6055 ENSG00000112706 interphotoreceptor matrix proteoglycan 1 IMPG1 GP147, IPM150, SPACR Yes No Comparative Toxicogenomics Database:3617, Ensembl:ENSG00000112706, GenAtlas:IMPG1, GeneCard:IMPG1, HGNC:HGNC:6055, HumanCyc Gene:HS03610, ModBase:Q17R60, NCBI Gene:3617, OMIM:602870, RefSeq DNA:NT_007299, RefSeq Protein:NP_001554, RefSeq RNA:NM_001563, UCSC Genome Browser:NM_001563, UniProtKB:Q17R60 No chr6 76631062 76782335 75921114 76072678 +PA29866 50939 HGNC:18362 ENSG00000081148 interphotoreceptor matrix proteoglycan 2 IMPG2 IPM200, RP56, SPACRCAN Yes No Ensembl:ENSG00000081148, GenAtlas:IMPG2, GeneCard:IMPG2, HGNC:HGNC:18362, HumanCyc Gene:HS01385, NCBI Gene:50939, OMIM:607056, RefSeq DNA:NT_005612, RefSeq Protein:NP_057331, RefSeq RNA:NM_016247, UCSC Genome Browser:NM_016247, UniProtKB:Q9BZV3 No chr3 100941390 101039419 101222546 101320575 +PA29867 9118 HGNC:6057 ENSG00000148798 internexin neuronal intermediate filament protein alpha INA internexin neuronal intermediate filament protein, alpha NEF5, NF-66 Yes No Comparative Toxicogenomics Database:9118, Ensembl:ENSG00000148798, GenAtlas:INA, GeneCard:INA, HGNC:HGNC:6057, HumanCyc Gene:HS07561, ModBase:Q16352, NCBI Gene:9118, OMIM:605338, RefSeq DNA:NG_012318, RefSeq DNA:NT_030059, RefSeq Protein:NP_116116, RefSeq RNA:NM_032727, UCSC Genome Browser:NM_032727, UniProtKB:Q16352 No chr10 105036919 105050108 103277163 103290351 +PA165394234 255783 HGNC:27406 ENSG00000257704 InaF motif containing 1 INAFM1 InaF-motif containing 1, proline rich 24 PRR24 Yes No Ensembl:ENSG00000257704, GeneCard:PRR24, HGNC:HGNC:27406, NCBI Gene:255783, RefSeq DNA:NT_011109, RefSeq Protein:NP_848606, RefSeq RNA:NM_178511, RefSeq RNA:NR_037675 No chr19 47777659 47778980 47274402 47275723 +PA166123695 100505573 HGNC:35165 ENSG00000259330 InaF motif containing 2 INAFM2 InaF-motif containing 2, osteogenesis up-regulated transcript 1 LINC00984, OGU1 Yes No Ensembl:ENSG00000259330, HGNC:HGNC:35165, NCBI Gene:100505573 No +PA142672490 55765 HGNC:25599 ENSG00000163362 innate immunity activator INAVA chromosome 1 open reading frame 106 C1orf106, FLJ10901 Yes No Ensembl:ENSG00000163362, GeneCard:C1orf106, HGNC:HGNC:25599, HumanCyc Gene:HS15050, NCBI Gene:55765, RefSeq DNA:NT_004487, RefSeq Protein:NP_001136041, RefSeq Protein:NP_060735, RefSeq RNA:NM_001142569, RefSeq RNA:NM_018265, UniProtKB:B4E1K9, UniProtKB:Q3KP66 No chr1 200860627 200884864 200891074 200915736 +PA165431930 388324 HGNC:32224 ENSG00000196388 inhibitor of CDK, cyclin A1 interacting protein 1 INCA1 Yes No Ensembl:ENSG00000196388, GeneCard:INCA1, HGNC:HGNC:32224, NCBI Gene:388324, RefSeq DNA:NT_010718, RefSeq Protein:NP_001161457, RefSeq Protein:NP_001161458, RefSeq Protein:NP_001161459, RefSeq Protein:NP_998891, RefSeq RNA:NM_001167985, RefSeq RNA:NM_001167986, RefSeq RNA:NM_001167987, RefSeq RNA:NM_213726, UniProtKB:Q0VD86 No chr17 4891425 4901214 4988130 4997933 +PA29868 3619 HGNC:6058 ENSG00000149503 inner centromere protein INCENP inner centromere protein antigens 135/155kDa FLJ31633 Yes No Comparative Toxicogenomics Database:3619, Ensembl:ENSG00000149503, GenAtlas:INCENP, GeneCard:INCENP, HGNC:HGNC:6058, HumanCyc Gene:HS14285, ModBase:Q9NQS7, NCBI Gene:3619, OMIM:604411, RefSeq DNA:NT_167190, RefSeq Protein:NP_001035784, RefSeq Protein:NP_064623, RefSeq RNA:NM_001040694, RefSeq RNA:NM_020238, UCSC Genome Browser:NM_020238, UniProtKB:Q9NQS7 No chr11 61891445 61920635 62123973 62155474 +PA29870 8552 HGNC:6060 ENSG00000224975 inactivation escape 1 (non-protein coding) INE1 non-protein coding RNA 10 NCRNA00010 Yes No Ensembl:ENSG00000224975, GenAtlas:INE1, GeneCard:INE1, HGNC:HGNC:6060, NCBI Gene:8552, OMIM:300164, RefSeq DNA:NG_021353, RefSeq DNA:NT_079573, RefSeq RNA:NR_024616, UCSC Genome Browser:NM_003669 No chrX 47064247 47065260 47204848 47205861 +PA29871 8551 HGNC:6061 ENSG00000281371 inactivation escape 2 (non-protein coding) INE2 non-protein coding RNA 11 NCRNA00011 Yes No Ensembl:ENSG00000281371, GenAtlas:INE2, GeneCard:INE2, HGNC:HGNC:6061, NCBI Gene:8551, OMIM:300165, RefSeq DNA:NT_167197, RefSeq RNA:NR_002725 No chrX 15803839 15805712 15785716 15787589 +PA162392025 64423 HGNC:23791 ENSG00000203485 inverted formin 2 INF2 """inverted formin 2"", ""inverted formin, FH2 and WH2 domain containing""" C14orf151, C14orf173, MGC13251 Yes No Ensembl:ENSG00000203485, GeneCard:INF2, HGNC:HGNC:23791, ModBase:Q27J81, NCBI Gene:64423, OMIM:610982, OMIM:613237, RefSeq DNA:NT_026437, RefSeq Protein:NP_001026884, RefSeq Protein:NP_071934, RefSeq Protein:NP_116103, RefSeq RNA:NM_001031714, RefSeq RNA:NM_022489, RefSeq RNA:NM_032714, UniProtKB:Q27J81 No chr14 105147902 105185947 104689606 104719610 +PA29872 3621 HGNC:6062 ENSG00000153487 inhibitor of growth family member 1 ING1 """growth inhibitor ING1"", ""growth inhibitory protein ING1"", ""inhibitor of growth 1"", ""inhibitor of growth family, member 1"", ""tumor suppressor ING1""" p24ING1c, p33, p33ING1, p33ING1b, p47, p47ING1a Yes No Comparative Toxicogenomics Database:3621, Ensembl:ENSG00000153487, GenAtlas:ING1, GeneCard:ING1, HGNC:HGNC:6062, HumanCyc Gene:HS07909, ModBase:Q9P0U6, NCBI Gene:3621, OMIM:275355, OMIM:601566, RefSeq DNA:NG_012197, RefSeq DNA:NT_009952, RefSeq Protein:NP_005528, RefSeq Protein:NP_937860, RefSeq Protein:NP_937861, RefSeq Protein:NP_937862, RefSeq RNA:NM_005537, RefSeq RNA:NM_198217, RefSeq RNA:NM_198218, RefSeq RNA:NM_198219, UCSC Genome Browser:NM_005537, UniProtKB:Q5T9H0, UniProtKB:Q9UK53 No chr13 111364970 111373421 110712623 110721074 +PA29873 3622 HGNC:6063 ENSG00000168556 inhibitor of growth family member 2 ING2 inhibitor of growth family, member 2 ING1L, p33ING2 Yes No Comparative Toxicogenomics Database:3622, Ensembl:ENSG00000168556, GenAtlas:ING2, GeneCard:ING2, HGNC:HGNC:6063, HumanCyc Gene:HS09786, ModBase:Q9H160, NCBI Gene:3622, OMIM:604215, RefSeq DNA:NT_016354, RefSeq Protein:NP_001555, RefSeq RNA:NM_001564, UCSC Genome Browser:NM_001564, UCSC Genome Browser:NM_058171, UniProtKB:Q9H160 No chr4 184426220 184433422 183505050 183512428 +PA29875 54556 HGNC:14587 ENSG00000071243 inhibitor of growth family member 3 ING3 inhibitor of growth family, member 3 Eaf4, FLJ20089, MEAF4, p47ING3 Yes No Comparative Toxicogenomics Database:54556, Ensembl:ENSG00000071243, GenAtlas:ING3, GeneCard:ING3, HGNC:HGNC:14587, HumanCyc Gene:HS01029, ModBase:Q9HC99, NCBI Gene:54556, OMIM:607493, RefSeq DNA:NG_023322, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_061944, RefSeq Protein:NP_938008, RefSeq RNA:NM_019071, RefSeq RNA:NM_198267, UCSC Genome Browser:NM_019071, UniProtKB:Q9NXR8 No chr7 120590817 120615711 120950755 120975657 +PA134976283 51147 HGNC:19423 ENSG00000111653 inhibitor of growth family member 4 ING4 inhibitor of growth family, member 4 my036, p29ING4 Yes No Comparative Toxicogenomics Database:51147, Ensembl:ENSG00000111653, GeneCard:ING4, HGNC:HGNC:19423, HumanCyc Gene:HS03436, ModBase:Q9UNL4, NCBI Gene:51147, OMIM:608524, RefSeq DNA:NT_009759, RefSeq Protein:NP_001121054, RefSeq Protein:NP_001121055, RefSeq Protein:NP_001121056, RefSeq Protein:NP_001121057, RefSeq Protein:NP_001121058, RefSeq Protein:NP_057246, RefSeq RNA:NM_001127582, RefSeq RNA:NM_001127583, RefSeq RNA:NM_001127584, RefSeq RNA:NM_001127585, RefSeq RNA:NM_001127586, RefSeq RNA:NM_016162, UniProtKB:A4KYM4, UniProtKB:A4KYM6, UniProtKB:Q0EF62, UniProtKB:Q0EF63, UniProtKB:Q4VBQ6, UniProtKB:Q9UNL4 No chr12 6759704 6772311 6650538 6663143 +PA134935441 84289 HGNC:19421 ENSG00000168395 inhibitor of growth family member 5 ING5 inhibitor of growth family, member 5 FLJ23842, p28ING5 Yes No Comparative Toxicogenomics Database:84289, Ensembl:ENSG00000168395, GeneCard:ING5, HGNC:HGNC:19421, HumanCyc Gene:HS09747, ModBase:Q8WYH8, NCBI Gene:84289, OMIM:608525, RefSeq DNA:NT_005416, RefSeq Protein:NP_115705, RefSeq RNA:NM_032329, UniProtKB:Q8WYH8 No chr2 242641456 242668896 241687017 241729481 +PA142671659 27160 HGNC:6064 ENSG00000243468 inhibitor of growth family, X-linked, pseudogene INGX ING1-like Yes No Ensembl:ENSG00000243468, GeneCard:INGX, HGNC:HGNC:6064, ModBase:Q9P0U5, NCBI Gene:27160, OMIM:300452, RefSeq DNA:NT_011669, RefSeq RNA:NR_002226 No chrX 70711377 70712604 71491681 71492449 +PA29876 3623 HGNC:6065 ENSG00000123999 inhibin subunit alpha INHA inhibin, alpha Yes No Comparative Toxicogenomics Database:3623, Ensembl:ENSG00000123999, GenAtlas:INHA, GeneCard:INHA, HGNC:HGNC:6065, HumanCyc Gene:HS04705, ModBase:P05111, NCBI Gene:3623, OMIM:147380, RefSeq DNA:NT_005403, RefSeq Protein:NP_002182, RefSeq RNA:NM_002191, UCSC Genome Browser:NM_002191, UniProtKB:P05111 No chr2 220436954 220440435 219572232 219575713 +PA29877 3624 HGNC:6066 ENSG00000122641 inhibin subunit beta A INHBA inhibin, beta A Yes Yes Comparative Toxicogenomics Database:3624, Ensembl:ENSG00000122641, GenAtlas:INHBA, GeneCard:INHBA, HGNC:HGNC:6066, HumanCyc Gene:HS04583, ModBase:P08476, NCBI Gene:3624, OMIM:147290, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002183, RefSeq RNA:NM_002192, UCSC Genome Browser:NM_002192, UniProtKB:A4D1W7, UniProtKB:P08476 No chr7 41728601 41742706 41685101 41710532 +PA29878 3625 HGNC:6067 ENSG00000163083 inhibin subunit beta B INHBB inhibin, beta B Yes No Comparative Toxicogenomics Database:3625, Ensembl:ENSG00000163083, GenAtlas:INHBB, GeneCard:INHBB, HGNC:HGNC:6067, HumanCyc Gene:HS08784, ModBase:P09529, NCBI Gene:3625, OMIM:147390, RefSeq DNA:NT_022135, RefSeq Protein:NP_002184, RefSeq RNA:NM_002193, UCSC Genome Browser:NM_002193, UniProtKB:P09529, UniProtKB:Q53T31 No chr2 121103719 121109383 120346143 120351807 +PA29879 3626 HGNC:6068 ENSG00000175189 inhibin subunit beta C INHBC inhibin, beta C Yes No Comparative Toxicogenomics Database:3626, Ensembl:ENSG00000175189, GenAtlas:INHBC, GeneCard:INHBC, HGNC:HGNC:6068, HumanCyc Gene:HS10891, ModBase:P55103, NCBI Gene:3626, OMIM:601233, RefSeq DNA:NT_029419, RefSeq Protein:NP_005529, RefSeq RNA:NM_005538, UCSC Genome Browser:NM_005538, UniProtKB:P55103 No chr12 57828543 57844609 57434685 57452062 +PA134898991 83729 HGNC:24029 ENSG00000139269 inhibin subunit beta E INHBE inhibin, beta E MGC4638, activin Yes No Comparative Toxicogenomics Database:83729, Ensembl:ENSG00000139269, GeneCard:INHBE, HGNC:HGNC:24029, HumanCyc Gene:HS06601, ModBase:P58166, NCBI Gene:83729, OMIM:612031, RefSeq DNA:NT_029419, RefSeq Protein:NP_113667, RefSeq RNA:NM_031479, UniProtKB:P58166 No chr12 57849096 57851791 57455313 57458008 +PA134992982 58493 HGNC:24994 ENSG00000148153 INTS3 and NABP interacting protein INIP hSSB-interacting protein 1, minute INTS3/hSSB-associated element, sensor of single-strand DNA complex subunit C C9orf80, HSPC043, MISE, SOSS-C, hSSBIP1 Yes No Ensembl:ENSG00000148153, GeneCard:C9orf80, HGNC:HGNC:24994, HumanCyc Gene:HS14233, NCBI Gene:58493, OMIM:613273, RefSeq DNA:NT_008470, RefSeq Protein:NP_067041, RefSeq RNA:NM_021218, UniProtKB:Q9NRY2 No chr9 115448786 115480387 112686506 112718107 +PA143485330 389119 HGNC:32480 ENSG00000185614 inka box actin regulator 1 INKA1 """Induced in Neural Crest by AP-2alpha"", ""family with sequence similarity 212, member A""" C3orf54, FAM212A Yes No Ensembl:ENSG00000185614, GeneCard:C3orf54, HGNC:HGNC:32480, NCBI Gene:389119, RefSeq DNA:NT_022517, RefSeq Protein:NP_976248, RefSeq RNA:NM_203370, UniProtKB:Q96EL1 No chr3 49840687 49842463 49803130 49805030 +PA142672431 55924 HGNC:28045 ENSG00000197852 inka box actin regulator 2 INKA2 family with sequence similarity 212, member B C1orf183, FAM212B, FLJ31105 Yes No Ensembl:ENSG00000197852, GeneCard:C1orf183, HGNC:HGNC:28045, ModBase:Q9NTI7, NCBI Gene:55924, RefSeq DNA:NT_032977, RefSeq Protein:NP_061972, RefSeq Protein:NP_945120, RefSeq RNA:NM_019099, RefSeq RNA:NM_198926, UniProtKB:Q9NTI7 No chr1 112264686 112298419 111722064 111755797 +PA403 11185 HGNC:6069 ENSG00000241644 indolethylamine N-methyltransferase INMT Yes No Comparative Toxicogenomics Database:11185, Ensembl:ENSG00000241644, GenAtlas:INMT, GeneCard:INMT, HGNC:HGNC:6069, HumanCyc Gene:HS00305, ModBase:O95050, NCBI Gene:11185, OMIM:604854, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001186148, RefSeq Protein:NP_006765, RefSeq RNA:NM_001199219, RefSeq RNA:NM_006774, UCSC Genome Browser:NM_006774, UniProtKB:O95050, UniProtKB:Q3MIB5 No chr7 30791689 30806152 30752135 30757602 +PA162392040 54617 HGNC:26956 ENSG00000128908 INO80 complex ATPase subunit INO80 INO80 complex subunit, INO80 complex subunit A, INO80 homolog (S. cerevisiae) INO80A, INOC1, Ino80, KIAA1259, hINO80 Yes No Ensembl:ENSG00000128908, GeneCard:INO80, HGNC:HGNC:26956, ModBase:Q9ULG1, NCBI Gene:54617, OMIM:610169, RefSeq DNA:NG_017163, RefSeq DNA:NT_010194, RefSeq Protein:NP_060023, RefSeq RNA:NM_017553, UniProtKB:Q9NUK2, UniProtKB:Q9ULG1 No chr15 41271078 41408340 40978880 41117081 +PA162392117 83444 HGNC:13324 ENSG00000115274 INO80 complex subunit B INO80B IES2 homolog (S. cerevisiae), PAP-1 binding protein HMGA1L4, HMGIYL4, IES2, PAP-1BP, PAPA-1, ZNHIT4, hIes2 Yes No Ensembl:ENSG00000115274, GeneCard:INO80B, HGNC:HGNC:13324, HumanCyc Gene:HS12837, NCBI Gene:83444, RefSeq DNA:NT_022184, RefSeq Protein:NP_112578, RefSeq RNA:NM_031288, UniProtKB:Q9C086 No chr2 74682150 74685087 74455023 74457960 +PA162392132 125476 HGNC:26994 ENSG00000153391 INO80 complex subunit C INO80C IES6 homolog (S. cerevisiae) C18orf37, FLJ38183, IES6, hIes6 Yes No Ensembl:ENSG00000153391, GeneCard:INO80C, HGNC:HGNC:26994, ModBase:Q6PI98, NCBI Gene:125476, RefSeq DNA:NT_010966, RefSeq Protein:NP_001092287, RefSeq Protein:NP_919257, RefSeq RNA:NM_001098817, RefSeq RNA:NM_194281, UniProtKB:Q6PI98 No chr18 33032194 33078110 35468327 35497991 +PA162392147 54891 HGNC:25997 ENSG00000114933 INO80 complex subunit D INO80D FLJ20309 Yes No Ensembl:ENSG00000114933, GeneCard:INO80D, HGNC:HGNC:25997, HumanCyc Gene:HS12829, NCBI Gene:54891, RefSeq DNA:NT_005403, RefSeq Protein:NP_060229, RefSeq RNA:NM_017759, UniProtKB:B9EG77, UniProtKB:Q53TQ3 No chr2 206858445 206950906 205993721 206086182 +PA162392174 283899 HGNC:26905 ENSG00000169592 INO80 complex subunit E INO80E CCDC95, FLJ90652 Yes No Ensembl:ENSG00000169592, GeneCard:INO80E, HGNC:HGNC:26905, HumanCyc Gene:HS15789, ModBase:Q8NBZ0, NCBI Gene:283899, RefSeq DNA:NT_010393, RefSeq Protein:NP_775889, RefSeq RNA:NM_173618, UniProtKB:Q8NBZ0 No chr16 30007485 30017112 29996209 30005794 +PA29880 3628 HGNC:6071 ENSG00000151689 inositol polyphosphate-1-phosphatase INPP1 Yes No Ensembl:ENSG00000151689, GenAtlas:INPP1, GeneCard:INPP1, HGNC:HGNC:6071, HumanCyc Gene:HS07761, ModBase:P49441, NCBI Gene:3628, OMIM:147263, RefSeq DNA:NT_005403, RefSeq Protein:NP_001122400, RefSeq Protein:NP_002185, RefSeq RNA:NM_001128928, RefSeq RNA:NM_002194, UCSC Genome Browser:NM_002194, UniProtKB:P49441, UniProtKB:Q6IBG4 No chr2 191208196 191236391 190343470 190371665 +PA29882 3631 HGNC:6074 ENSG00000040933 inositol polyphosphate-4-phosphatase type I A INPP4A """Type I inositol 3,4-bisphosphate 4-phosphatase"", ""inositol polyphosphate-4-phosphatase, type I, 107kDa""" INPP4 Yes No Ensembl:ENSG00000040933, GenAtlas:INPP4A, GeneCard:INPP4A, HGNC:HGNC:6074, HumanCyc Gene:HS00551, ModBase:Q96PE3, NCBI Gene:3631, OMIM:600916, RefSeq DNA:NT_022171, RefSeq Protein:NP_001127696, RefSeq Protein:NP_001127697, RefSeq Protein:NP_001557, RefSeq Protein:NP_004018, RefSeq RNA:NM_001134224, RefSeq RNA:NM_001134225, RefSeq RNA:NM_001566, RefSeq RNA:NM_004027, UCSC Genome Browser:NM_001566, UniProtKB:Q96PE3 No chr2 99061321 99207496 98444592 98594068 +PA29883 8821 HGNC:6075 ENSG00000109452 inositol polyphosphate-4-phosphatase type II B INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa Yes No Comparative Toxicogenomics Database:8821, Ensembl:ENSG00000109452, GenAtlas:INPP4B, GeneCard:INPP4B, HGNC:HGNC:6075, HumanCyc Gene:HS03227, ModBase:O15327, NCBI Gene:8821, OMIM:607494, RefSeq DNA:NT_016354, RefSeq Protein:NP_001095139, RefSeq Protein:NP_003857, RefSeq RNA:NM_001101669, RefSeq RNA:NM_003866, UCSC Genome Browser:NM_003866, UniProtKB:O15327 No chr4 142949181 143767604 142023160 142846535 +PA29884 3632 HGNC:6076 ENSG00000068383 inositol polyphosphate-5-phosphatase A INPP5A """43 kDa inositol polyphosphate 5-phophatase"", ""CTCL tumor antigen HD-CL-02"", ""InsP3 5-phosphatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""inositol polyphosphate-5-phosphatase, 40kDa"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase""" 5PTASE Yes No Comparative Toxicogenomics Database:3632, Ensembl:ENSG00000068383, GenAtlas:INPP5A, GeneCard:INPP5A, HGNC:HGNC:6076, HumanCyc Gene:HS00936, ModBase:Q14642, NCBI Gene:3632, OMIM:600106, RefSeq DNA:NT_008818, RefSeq Protein:NP_005530, RefSeq RNA:NM_005539, UCSC Genome Browser:NM_005539, UniProtKB:Q14642, UniProtKB:Q8N6C1 No chr10 134351283 134596984 132537779 132783480 +PA29885 3633 HGNC:6077 ENSG00000204084 inositol polyphosphate-5-phosphatase B INPP5B """inositol polyphosphate-5-phosphatase, 75kDa"", ""type II inositol 1,4,5-trisphosphate 5-phosphatase""" Yes No Comparative Toxicogenomics Database:3633, Ensembl:ENSG00000204084, GenAtlas:INPP5B, GeneCard:INPP5B, HGNC:HGNC:6077, HumanCyc Gene:HS05898, ModBase:P32019, NCBI Gene:3633, OMIM:147264, RefSeq DNA:NT_032977, RefSeq Protein:NP_005531, RefSeq RNA:NM_005540, UniProtKB:P32019 No chr1 38326369 38412729 37860697 37947094 +PA29887 3635 HGNC:6079 ENSG00000168918 inositol polyphosphate-5-phosphatase D INPP5D """SH2 domain-containing inositol 5'-phosphatase 1"", ""inositol polyphosphate-5-phosphatase, 145kDa""" SHIP, SHIP1, hp51CN Yes No Comparative Toxicogenomics Database:3635, Ensembl:ENSG00000168918, GenAtlas:INPP5D, GeneCard:INPP5D, HGNC:HGNC:6079, HumanCyc Gene:HS09849, ModBase:Q92835, NCBI Gene:3635, OMIM:601582, RefSeq DNA:NT_005120, RefSeq DNA:NT_005403, RefSeq Protein:NP_001017915, RefSeq Protein:NP_005532, RefSeq RNA:NM_001017915, RefSeq RNA:NM_005541, UCSC Genome Browser:NM_005541, UniProtKB:Q92835 No chr2 +PA164741785 56623 HGNC:21474 ENSG00000148384 inositol polyphosphate-5-phosphatase E INPP5E """Phosphatidylinositol polyphosphate 5-phosphatase type IV"", ""inositol polyphosphate-5-phosphatase, 72 kDa""" CORS1, JBTS1, PPI5PIV, pharbin Yes No Ensembl:ENSG00000148384, GeneCard:INPP5E, HGNC:HGNC:21474, HumanCyc Gene:HS07523, ModBase:Q9NRR6, NCBI Gene:56623, OMIM:213300, OMIM:610156, OMIM:613037, RefSeq DNA:NG_016126, RefSeq DNA:NT_024000, RefSeq Protein:NP_063945, RefSeq RNA:NM_019892, UniProtKB:Q9NRR6 No chr9 139323067 139334305 136428615 136439861 +PA134927878 22876 HGNC:17054 ENSG00000198825 inositol polyphosphate-5-phosphatase F INPP5F Phosphatidylinositide phosphatase SAC2, Sac domain-containing inositol phosphatase 2, Sac domain-containing phosphoinositide 4-phosphatase 2 KIAA0966, SAC2, hSac2 Yes No Comparative Toxicogenomics Database:22876, Ensembl:ENSG00000198825, GeneCard:INPP5F, HGNC:HGNC:17054, HumanCyc Gene:HS12255, ModBase:Q9Y2H2, NCBI Gene:22876, OMIM:609389, RefSeq DNA:NT_030059, RefSeq Protein:NP_055752, RefSeq RNA:NM_014937, RefSeq RNA:NR_003251, RefSeq RNA:NR_003252, UniProtKB:Q9Y2H2 No chr10 121485559 121588663 119704395 119829151 +PA164720918 27124 HGNC:8956 ENSG00000185133 inositol polyphosphate-5-phosphatase J INPP5J INPP5, PIB5PA, PIPP Yes No Ensembl:ENSG00000185133, GeneCard:INPP5J, HGNC:HGNC:8956, HumanCyc Gene:HS11950, ModBase:Q15735, NCBI Gene:27124, OMIM:606481, RefSeq DNA:NT_011520, RefSeq Protein:NP_001002837, RefSeq RNA:NM_001002837, UniProtKB:Q15735 No chr22 31518893 31530683 31107736 31134697 +PA164720951 51763 HGNC:33882 ENSG00000132376 inositol polyphosphate-5-phosphatase K INPP5K skeletal muscle and kidney enriched inositol phosphatase SKIP Yes No Ensembl:ENSG00000132376, GeneCard:INPP5K, HGNC:HGNC:33882, HumanCyc Gene:HS05626, ModBase:Q9BT40, NCBI Gene:51763, OMIM:607875, RefSeq DNA:NT_010718, RefSeq Protein:NP_001129114, RefSeq Protein:NP_057616, RefSeq Protein:NP_570122, RefSeq RNA:NM_001135642, RefSeq RNA:NM_016532, RefSeq RNA:NM_130766, UniProtKB:Q9BT40 No chr17 1397869 1420182 1494575 1516888 +PA29888 3636 HGNC:6080 ENSG00000165458 inositol polyphosphate phosphatase like 1 INPPL1 """51C protein"", ""SH2 domain-containing inositol 5'-phosphatase 2"", ""inositol polyphosphate phosphatase-like 1"", ""phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2""" SHIP2 Yes No Comparative Toxicogenomics Database:3636, Ensembl:ENSG00000165458, GenAtlas:INPPL1, GeneCard:INPPL1, HGNC:HGNC:6080, HumanCyc Gene:HS09233, ModBase:O15357, NCBI Gene:3636, OMIM:600829, RefSeq DNA:NG_023253, RefSeq DNA:NT_167190, RefSeq Protein:NP_001558, RefSeq RNA:NM_001567, UCSC Genome Browser:NM_001567, UniProtKB:O15357 No chr11 71934916 71950191 72223861 72239147 +PA201 3630 HGNC:6081 ENSG00000254647 insulin INS IDDM1, IDDM2 Yes No Comparative Toxicogenomics Database:3630, Ensembl:ENSG00000254647, GenAtlas:INS, GeneCard:INS, HGNC:HGNC:6081, HumanCyc Gene:HS05321, ModBase:P01308, NCBI Gene:3630, OMIM:125850, OMIM:125852, OMIM:147510, OMIM:176730, OMIM:606176, OMIM:613370, RefSeq DNA:NG_007114, RefSeq DNA:NT_009237, RefSeq Protein:NP_000198, RefSeq Protein:NP_001172026, RefSeq Protein:NP_001172027, RefSeq RNA:NM_000207, RefSeq RNA:NM_001185097, RefSeq RNA:NM_001185098, UCSC Genome Browser:NM_000207, UniProtKB:P01308 No chr11 2181009 2182439 2159779 2161209 +PA162392191 387755 HGNC:33116 ENSG00000188487 INSC spindle orientation adaptor protein INSC """INSC, spindle orientation adaptor protein"", ""inscuteable homolog (Drosophila)"", ""inscuteable spindle orientation adaptor protein""" Yes No Ensembl:ENSG00000188487, GeneCard:INSC, HGNC:HGNC:33116, ModBase:Q1MX18, NCBI Gene:387755, OMIM:610668, RefSeq DNA:NT_009237, RefSeq Protein:NP_001027024, RefSeq Protein:NP_001036001, RefSeq RNA:NM_001031853, RefSeq RNA:NM_001042536, UniProtKB:Q1MX18 No chr11 15133970 15268754 15111416 15269675 +PA29890 3638 HGNC:6083 ENSG00000186480 insulin induced gene 1 INSIG1 INSIG-1 membrane protein CL-6, MGC1405 Yes No Comparative Toxicogenomics Database:3638, Ensembl:ENSG00000186480, GenAtlas:INSIG1, GeneCard:INSIG1, HGNC:HGNC:6083, ModBase:O15503, NCBI Gene:3638, OMIM:602055, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_005533, RefSeq Protein:NP_938150, RefSeq Protein:NP_938151, RefSeq RNA:NM_005542, RefSeq RNA:NM_198336, RefSeq RNA:NM_198337, UCSC Genome Browser:NM_005542, UniProtKB:A4D2N1, UniProtKB:O15503 No chr7 155089486 155101945 155297776 155310235 +PA134890284 51141 HGNC:20452 ENSG00000125629 insulin induced gene 2 INSIG2 Yes Yes Comparative Toxicogenomics Database:51141, Ensembl:ENSG00000125629, GeneCard:INSIG2, HGNC:HGNC:20452, HumanCyc Gene:HS13168, ModBase:Q9Y5U4, NCBI Gene:51141, OMIM:608660, RefSeq DNA:NT_022135, RefSeq Protein:NP_057217, RefSeq RNA:NM_016133, UniProtKB:Q9Y5U4 No chr2 118846033 118867604 118088418 118110031 +PA162392175 723961 HGNC:33527 ENSG00000129965 INS-IGF2 readthrough INS-IGF2 Yes Yes Ensembl:ENSG00000129965, HGNC:HGNC:33527, NCBI Gene:723961, RefSeq DNA:NG_008849.1, RefSeq DNA:NT_009237.17, RefSeq Protein:NP_001035835, RefSeq Protein:NP_001035835.1, RefSeq RNA:NM_001042376, RefSeq RNA:NM_001042376.1, RefSeq RNA:NR_003512, RefSeq RNA:NR_003512.1 No chr11 2150342 2182439 2129112 2161209 +PA29893 3640 HGNC:6086 ENSG00000248099 insulin like 3 INSL3 insulin-like 3 (Leydig cell), prepro-INSL3 MGC119818, MGC119819, RLF, RLNL Yes No Comparative Toxicogenomics Database:3640, Ensembl:ENSG00000248099, GenAtlas:INSL3, GeneCard:INSL3, HGNC:HGNC:6086, HumanCyc Gene:HS10369, NCBI Gene:3640, OMIM:146738, OMIM:219050, RefSeq DNA:NG_012092, RefSeq DNA:NT_011295, RefSeq Protein:NP_005534, RefSeq RNA:NM_005543, UCSC Genome Browser:NM_005543, UniProtKB:P51460 No chr19 17927322 17932383 17816513 17821574 +PA29894 3641 HGNC:6087 ENSG00000120211 insulin like 4 INSL4 insulin-like 4 (placenta) EPIL Yes No Comparative Toxicogenomics Database:3641, Ensembl:ENSG00000120211, GenAtlas:INSL4, GeneCard:INSL4, HGNC:HGNC:6087, HumanCyc Gene:HS04377, ModBase:Q14641, NCBI Gene:3641, OMIM:600910, RefSeq DNA:NT_008413, RefSeq Protein:NP_002186, RefSeq RNA:NM_002195, UCSC Genome Browser:NM_002195, UniProtKB:Q14641 No chr9 5231419 5233967 5231419 5233967 +PA29895 10022 HGNC:6088 ENSG00000172410 insulin like 5 INSL5 insulin-like 5, prepro-INSL5 Yes No Comparative Toxicogenomics Database:10022, Ensembl:ENSG00000172410, GenAtlas:INSL5, GeneCard:INSL5, HGNC:HGNC:6088, HumanCyc Gene:HS10513, ModBase:Q9Y5Q6, NCBI Gene:10022, OMIM:606413, RefSeq DNA:NT_032977, RefSeq Protein:NP_005469, RefSeq RNA:NM_005478, UCSC Genome Browser:NM_005478, UniProtKB:Q9Y5Q6 No chr1 67263424 67266942 66797741 66801259 +PA29896 11172 HGNC:6089 ENSG00000120210 insulin like 6 INSL6 insulin-like 6, relaxin/insulin-like factor 1 RIF1 Yes No Comparative Toxicogenomics Database:11172, Ensembl:ENSG00000120210, GenAtlas:INSL6, GeneCard:INSL6, HGNC:HGNC:6089, HumanCyc Gene:HS04376, ModBase:Q9Y581, NCBI Gene:11172, OMIM:606414, RefSeq DNA:NT_008413, RefSeq Protein:NP_009110, RefSeq RNA:NM_007179, UCSC Genome Browser:NM_007179, UniProtKB:Q9Y581 No chr9 5163863 5185618 4992408 5185706 +PA29897 3642 HGNC:6090 ENSG00000173404 INSM transcriptional repressor 1 INSM1 insulinoma-associated 1 IA-1, IA1 Yes No Comparative Toxicogenomics Database:3642, Ensembl:ENSG00000173404, GenAtlas:INSM1, GeneCard:INSM1, HGNC:HGNC:6090, HumanCyc Gene:HS10660, ModBase:Q01101, NCBI Gene:3642, OMIM:600010, RefSeq DNA:NT_011387, RefSeq Protein:NP_002187, RefSeq RNA:NM_002196, UCSC Genome Browser:NM_002196, UniProtKB:Q01101 No chr20 20348765 20351593 20368121 20370949 +PA134899231 84684 HGNC:17539 ENSG00000168348 INSM transcriptional repressor 2 INSM2 insulinoma-associated 2, mlt 1 IA-6, Mlt1 Yes No Ensembl:ENSG00000168348, GeneCard:INSM2, HGNC:HGNC:17539, HumanCyc Gene:HS15664, NCBI Gene:84684, RefSeq DNA:NT_026437, RefSeq Protein:NP_115983, RefSeq RNA:NM_032594, UniProtKB:Q96T92 No chr14 36003248 36006260 35534042 35537054 +PA202 3643 HGNC:6091 ENSG00000171105 insulin receptor INSR CD220 Yes Yes Comparative Toxicogenomics Database:3643, Ensembl:ENSG00000171105, GenAtlas:INSR, GeneCard:INSR, HGNC:HGNC:6091, HumanCyc Gene:HS10244, ModBase:P06213, NCBI Gene:3643, OMIM:147670, OMIM:246200, OMIM:262190, OMIM:609968, OMIM:610549, RefSeq DNA:NG_008852, RefSeq DNA:NT_011255, RefSeq Protein:NP_000199, RefSeq Protein:NP_001073285, RefSeq RNA:NM_000208, RefSeq RNA:NM_001079817, UCSC Genome Browser:NM_000208, UniProtKB:P06213 No chr19 7112266 7294011 7112255 7294405 +PA29899 3645 HGNC:6093 ENSG00000027644 insulin receptor related receptor INSRR insulin receptor-related receptor IRR Yes Yes Comparative Toxicogenomics Database:3645, Ensembl:ENSG00000027644, GenAtlas:INSRR, GeneCard:INSRR, HGNC:HGNC:6093, HumanCyc Gene:HS00457, ModBase:P14616, NCBI Gene:3645, OMIM:147671, RefSeq DNA:NT_004487, RefSeq Protein:NP_055030, RefSeq RNA:NM_014215, UCSC Genome Browser:NM_014215, UniProtKB:P14616 No chr1 156810665 156828712 156840873 156858920 +PA162378260 388135 HGNC:33753 ENSG00000205363 inhibitory synaptic factor 1 INSYN1 chromosome 15 open reading frame 59, inhibitory synaptic protein 1 C15orf59, LOC388135, MGC131524 Yes No Ensembl:ENSG00000205363, GeneCard:C15orf59, HGNC:HGNC:33753, ModBase:Q2T9L4, NCBI Gene:388135, RefSeq DNA:NT_010194, RefSeq Protein:NP_001034703, RefSeq RNA:NM_001039614, UniProtKB:Q2T9L4 No chr15 74027772 74045495 73735431 73753170 +PA165548646 642938 HGNC:33859 ENSG00000188916 inhibitory synaptic factor 2A INSYN2A """family with sequence similarity 196, member A"", ""inhibitory synaptic protein 2""" C10orf141, FAM196A, FLJ45557, INSYN2 Yes No Ensembl:ENSG00000188916, GeneCard:FAM196A, HGNC:HGNC:33859, ModBase:Q6ZSG2, NCBI Gene:642938, RefSeq DNA:NT_008818, RefSeq DNA:NT_008818.15, RefSeq Protein:NP_001034851, RefSeq RNA:NM_001039762, RefSeq RNA:NM_001039762.2, UniProtKB:Q6ZSG2 No chr10 128933690 128994436 127135426 127196522 +PA165660363 100131897 HGNC:37271 ENSG00000204767 inhibitory synaptic factor family member 2B INSYN2B family with sequence similarity 196, member B C5orf57, FAM196B Yes No Ensembl:ENSG00000204767, GeneCard:FAM196B, HGNC:HGNC:37271, NCBI Gene:100131897, RefSeq DNA:NT_023133, RefSeq Protein:NP_001123363, RefSeq RNA:NM_001129891, UniProtKB:A6NMK8 No chr5 169290719 169407744 169861304 169980740 +PA144596420 26173 HGNC:24555 ENSG00000164880 integrator complex subunit 1 INTS1 DKFZp586J0619, INT1, KIAA1440, NET28 Yes No Ensembl:ENSG00000164880, GeneCard:INTS1, HGNC:HGNC:24555, NCBI Gene:26173, OMIM:611345, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001073922, RefSeq RNA:NM_001080453, UniProtKB:Q8N201 No chr7 1509913 1544018 1470277 1504382 +PA142672354 55174 HGNC:25548 ENSG00000104613 integrator complex subunit 10 INTS10 C8orf35, FLJ10569, INT10 Yes No Ensembl:ENSG00000104613, GeneCard:INTS10, HGNC:HGNC:25548, HumanCyc Gene:HS12554, ModBase:Q9NVR2, NCBI Gene:55174, OMIM:611353, RefSeq DNA:NT_167187, RefSeq Protein:NP_060612, RefSeq RNA:NM_018142, UniProtKB:Q9NVR2 No chr8 19674876 19709589 19817149 19852078 +PA142672080 54973 HGNC:26052 ENSG00000127054 integrator complex subunit 11 INTS11 cleavage and polyadenylation specific factor 3-like, integrator complex subunit 11 CPSF3L, CPSF73L, FLJ20542, INT11, INTS11, RC-68 Yes No Ensembl:ENSG00000127054, GeneCard:CPSF3L, HGNC:HGNC:26052, HumanCyc Gene:HS13227, ModBase:Q9BW36, NCBI Gene:54973, OMIM:611354, RefSeq DNA:NT_004350, RefSeq Protein:NP_060341, RefSeq RNA:NM_017871, UniProtKB:B3KPR3, UniProtKB:Q5TA45 No chr1 1246965 1260067 1311585 1324687 +PA142671177 57117 HGNC:25067 ENSG00000138785 integrator complex subunit 12 INTS12 hypothetical nuclear factor SBBI22 INT12, PHF22, SBBI22 Yes No Comparative Toxicogenomics Database:57117, Ensembl:ENSG00000138785, GeneCard:INTS12, HGNC:HGNC:25067, HumanCyc Gene:HS06559, ModBase:Q96CB8, NCBI Gene:57117, OMIM:611355, RefSeq DNA:NT_016354, RefSeq Protein:NP_001135943, RefSeq Protein:NP_065128, RefSeq RNA:NM_001142471, RefSeq RNA:NM_020395, UniProtKB:Q96CB8 No chr4 106603784 106629881 105682627 105708725 +PA134892469 55726 HGNC:20174 ENSG00000064102 integrator complex subunit 13 INTS13 """asunder spermatogenesis regulator"", ""asunder, spermatogenesis regulator"", ""integrator complex subunit 13"", ""spermatogenesis associated 30""" ASUN, C12orf11, FLJ10637, Mat89Bb, NET48, SPATA30 Yes No Ensembl:ENSG00000064102, GeneCard:C12orf11, HGNC:HGNC:20174, HumanCyc Gene:HS12164, ModBase:Q9NVM9, NCBI Gene:55726, RefSeq DNA:NT_009714, RefSeq Protein:NP_060634, RefSeq RNA:NM_018164, UniProtKB:Q9NVM9 No chr12 27058112 27091254 26905171 26938326 +PA142672279 81556 HGNC:25372 ENSG00000138614 integrator complex subunit 14 INTS14 von Willebrand factor A domain containing 9 C15orf44, DKFZP564O1664, VWA9 Yes No Ensembl:ENSG00000138614, GeneCard:C15orf44, HGNC:HGNC:25372, HumanCyc Gene:HS13733, ModBase:Q96SY0, NCBI Gene:81556, RefSeq DNA:NT_010194, RefSeq Protein:NP_001129515, RefSeq Protein:NP_001193986, RefSeq Protein:NP_001193987, RefSeq Protein:NP_001193988, RefSeq Protein:NP_110427, RefSeq RNA:NM_001136043, RefSeq RNA:NM_001207057, RefSeq RNA:NM_001207058, RefSeq RNA:NM_001207059, RefSeq RNA:NM_030800, UniProtKB:B4DVD5, UniProtKB:Q96SY0 No chr15 65871095 65903627 65578757 65611289 +PA166351926 79034 HGNC:21702 integrator complex subunit 15 INTS15 C7orf26, MGC2718 Yes No HGNC:HGNC:21702, NCBI Gene:79034 No 0 0 0 0 +PA142671605 57508 HGNC:29241 ENSG00000108506 integrator complex subunit 2 INTS2 INT2, KIAA1287 Yes No Comparative Toxicogenomics Database:57508, Ensembl:ENSG00000108506, GeneCard:INTS2, HGNC:HGNC:29241, HumanCyc Gene:HS12674, ModBase:Q9H0H0, NCBI Gene:57508, OMIM:611346, RefSeq DNA:NT_010783, RefSeq Protein:NP_065799, RefSeq RNA:NM_020748, RefSeq RNA:NR_026641, UniProtKB:Q9H0H0 No chr17 59942728 60005377 61865367 61928029 +PA142672510 65123 HGNC:26153 ENSG00000143624 integrator complex subunit 3 INTS3 sensor of single-strand DNA complex subunit A C1orf60, FLJ21919, INT3, SOSS-A Yes No Comparative Toxicogenomics Database:65123, Ensembl:ENSG00000143624, GeneCard:INTS3, HGNC:HGNC:26153, HumanCyc Gene:HS13977, NCBI Gene:65123, OMIM:611347, RefSeq DNA:NT_004487, RefSeq Protein:NP_075391, RefSeq RNA:NM_023015, UniProtKB:Q68E01 No chr1 153700526 153746555 153728050 153774808 +PA144596421 92105 HGNC:25048 ENSG00000149262 integrator complex subunit 4 INTS4 INT4, MGC16733, MST093 Yes No Comparative Toxicogenomics Database:92105, Ensembl:ENSG00000149262, GeneCard:INTS4, HGNC:HGNC:25048, HumanCyc Gene:HS14274, ModBase:Q96HW7, NCBI Gene:92105, OMIM:611348, RefSeq DNA:NT_079593, RefSeq DNA:NT_167190, RefSeq Protein:NP_291025, RefSeq RNA:NM_033547, UniProtKB:Q96HW7 No chr11 77589766 77705771 77874491 77994849 +PA142671596 80789 HGNC:29352 ENSG00000185085 integrator complex subunit 5 INTS5 INT5, KIAA1698 Yes No Comparative Toxicogenomics Database:80789, Ensembl:ENSG00000185085, GeneCard:INTS5, HGNC:HGNC:29352, ModBase:Q6P9B9, NCBI Gene:80789, OMIM:611349, RefSeq DNA:NT_167190, RefSeq Protein:NP_085131, RefSeq RNA:NM_030628, UniProtKB:Q6P9B9 No chr11 62414320 62420774 62646848 62653302 +PA27212 26512 HGNC:14879 ENSG00000102786 integrator complex subunit 6 INTS6 DBI-1, DDX26, DDX26A, DICE1, HDB, INT6, Notchl2 Yes No Comparative Toxicogenomics Database:26512, Ensembl:ENSG00000102786, GenAtlas:INTS6, GeneCard:INTS6, HGNC:HGNC:14879, HumanCyc Gene:HS02413, ModBase:Q9UL03, NCBI Gene:26512, OMIM:604331, RefSeq DNA:NT_024524, RefSeq Protein:NP_001035026, RefSeq Protein:NP_001035027, RefSeq Protein:NP_036273, RefSeq RNA:NM_001039937, RefSeq RNA:NM_001039938, RefSeq RNA:NM_012141, UCSC Genome Browser:NM_012141, UniProtKB:A8MV98, UniProtKB:Q9UL03 No chr13 51927678 52027275 51353171 51453236 +PA134921149 203522 HGNC:27334 ENSG00000165359 integrator complex subunit 6 like INTS6L DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B DDX26B, FLJ41215 Yes No Comparative Toxicogenomics Database:203522, Ensembl:ENSG00000165359, GeneCard:DDX26B, HGNC:HGNC:27334, ModBase:Q5JSJ4, NCBI Gene:203522, RefSeq DNA:NT_011786, RefSeq Protein:NP_872346, RefSeq RNA:NM_182540, UniProtKB:Q5JSJ4 No chrX 134654555 134716460 135520630 135582535 +PA142672522 25896 HGNC:24484 ENSG00000143493 integrator complex subunit 7 INTS7 C1orf73, DKFZP434B168, INT7 Yes No Ensembl:ENSG00000143493, GeneCard:INTS7, HGNC:HGNC:24484, HumanCyc Gene:HS13969, ModBase:Q9NVH2, NCBI Gene:25896, OMIM:611350, RefSeq DNA:NT_167186, RefSeq Protein:NP_001186738, RefSeq Protein:NP_001186740, RefSeq Protein:NP_001186741, RefSeq Protein:NP_056249, RefSeq RNA:NM_001199809, RefSeq RNA:NM_001199811, RefSeq RNA:NM_001199812, RefSeq RNA:NM_015434, RefSeq RNA:NR_037667, UniProtKB:Q9NVH2 No chr1 212113741 212209002 211940328 212035660 +PA142672371 55656 HGNC:26048 ENSG00000164941 integrator complex subunit 8 INTS8 C8orf52, FLJ20530, INT8, MGC131633 Yes No Ensembl:ENSG00000164941, GeneCard:INTS8, HGNC:HGNC:26048, HumanCyc Gene:HS15260, ModBase:Q75QN2, NCBI Gene:55656, OMIM:611351, RefSeq DNA:NT_008046, RefSeq Protein:NP_060334, RefSeq RNA:NM_017864, UniProtKB:Q75QN2 No chr8 95835518 95892721 94823290 94894664 +PA162392192 55756 HGNC:25592 ENSG00000104299 integrator complex subunit 9 INTS9 CPSF2L, FLJ10871, RC-74 Yes No Ensembl:ENSG00000104299, GeneCard:INTS9, HGNC:HGNC:25592, HumanCyc Gene:HS12547, ModBase:Q9NV88, NCBI Gene:55756, OMIM:611352, RefSeq DNA:NG_016981, RefSeq DNA:NT_167187, RefSeq Protein:NP_001138631, RefSeq Protein:NP_001166033, RefSeq Protein:NP_060720, RefSeq RNA:NM_001145159, RefSeq RNA:NM_001172562, RefSeq RNA:NM_018250, RefSeq RNA:NR_026826, UniProtKB:B7Z560, UniProtKB:B7Z6M5, UniProtKB:Q9NV88 No chr8 28625175 28747698 28767658 28890226 +PA162392193 27152 HGNC:29239 ENSG00000164066 inturned planar cell polarity protein INTU ciliogenesis and planar polarity effector 4, ciliogenesis and planar polarity effector complex subunit 4 CPLANE4, KIAA1284, PDZD6, PDZK6 Yes No Comparative Toxicogenomics Database:27152, Ensembl:ENSG00000164066, GeneCard:INTU, HGNC:HGNC:29239, NCBI Gene:27152, OMIM:610621, RefSeq DNA:NT_016354, RefSeq Protein:NP_056508, RefSeq RNA:NM_015693, UniProtKB:Q9ULD6 No chr4 128554087 128637934 127623271 127716779 +PA38472 27130 HGNC:17870 ENSG00000119509 inversin INVS nephrocystin 2 NPHP2 Yes Yes Comparative Toxicogenomics Database:27130, Ensembl:ENSG00000119509, GenAtlas:INVS, GeneCard:INVS, HGNC:HGNC:17870, HumanCyc Gene:HS12939, ModBase:Q9Y283, NCBI Gene:27130, OMIM:243305, OMIM:602088, RefSeq DNA:NG_008316, RefSeq DNA:NT_008470, RefSeq Protein:NP_055240, RefSeq Protein:NP_899068, RefSeq RNA:NM_014425, RefSeq RNA:NM_183245, UCSC Genome Browser:NM_014425, UniProtKB:Q9Y283 No chr9 102861467 103063908 100099185 100302175 +PA164720982 9807 HGNC:18360 ENSG00000176095 inositol hexakisphosphate kinase 1 IP6K1 IHPK1, KIAA0263 Yes No Ensembl:ENSG00000176095, GeneCard:IP6K1, HGNC:HGNC:18360, HumanCyc Gene:HS10997, ModBase:Q92551, NCBI Gene:9807, OMIM:606991, RefSeq DNA:NT_022517, RefSeq Protein:NP_001006115, RefSeq Protein:NP_001229758, RefSeq Protein:NP_695005, RefSeq RNA:NM_001006115, RefSeq RNA:NM_001242829, RefSeq RNA:NM_153273, UniProtKB:A8MUX4, UniProtKB:Q92551 No chr3 49761728 49823973 49724295 49786540 +PA164720999 51447 HGNC:17313 ENSG00000068745 inositol hexakisphosphate kinase 2 IP6K2 IHPK2 Yes Yes Ensembl:ENSG00000068745, GeneCard:IP6K2, HGNC:HGNC:17313, HumanCyc Gene:HS00942, ModBase:Q9UHH9, NCBI Gene:51447, OMIM:606992, RefSeq DNA:NT_022517, RefSeq Protein:NP_001005909, RefSeq Protein:NP_001005910, RefSeq Protein:NP_001005911, RefSeq Protein:NP_001139650, RefSeq Protein:NP_001139651, RefSeq Protein:NP_001177245, RefSeq Protein:NP_001177246, RefSeq Protein:NP_057375, RefSeq RNA:NM_001005909, RefSeq RNA:NM_001005910, RefSeq RNA:NM_001005911, RefSeq RNA:NM_001146178, RefSeq RNA:NM_001146179, RefSeq RNA:NM_001190316, RefSeq RNA:NM_001190317, RefSeq RNA:NM_016291, RefSeq RNA:NR_027437, RefSeq RNA:NR_027438, UniProtKB:A8K3B1, UniProtKB:B2RCP4, UniProtKB:B4E3G6, UniProtKB:Q9UHH9 No chr3 48725436 48754711 48688003 48717278 +PA164721016 117283 HGNC:17269 ENSG00000161896 inositol hexakisphosphate kinase 3 IP6K3 IHPK3, INSP6K3 Yes No Ensembl:ENSG00000161896, GeneCard:IP6K3, HGNC:HGNC:17269, HumanCyc Gene:HS08619, ModBase:Q96PC2, NCBI Gene:117283, OMIM:606993, RefSeq DNA:NT_007592, RefSeq Protein:NP_001136355, RefSeq Protein:NP_473452, RefSeq RNA:NM_001142883, RefSeq RNA:NM_054111, UniProtKB:A8K1M0, UniProtKB:Q5TAQ4, UniProtKB:Q96PC2 No chr6 33689415 33714762 33721476 33746997 +PA164721033 26034 HGNC:21204 ENSG00000074706 interaction protein for cytohesin exchange factors 1 IPCEF1 phosphoinositide binding protein PIP3-E KIAA0403, PIP3-E Yes No Comparative Toxicogenomics Database:26034, Ensembl:ENSG00000074706, GeneCard:IPCEF1, HGNC:HGNC:21204, NCBI Gene:26034, RefSeq DNA:NT_025741, RefSeq Protein:NP_001124171, RefSeq Protein:NP_001124172, RefSeq Protein:NP_056368, RefSeq RNA:NM_001130699, RefSeq RNA:NM_001130700, RefSeq RNA:NM_015553, UniProtKB:Q8WWN9 No chr6 154475618 154677900 154154483 154356836 +PA134903369 253430 HGNC:20739 ENSG00000151151 inositol polyphosphate multikinase IPMK Yes No Comparative Toxicogenomics Database:253430, Ensembl:ENSG00000151151, GeneCard:IPMK, HGNC:HGNC:20739, HumanCyc Gene:HS07712, ModBase:Q8NFU5, NCBI Gene:253430, OMIM:609851, RefSeq DNA:NT_030059, RefSeq Protein:NP_689416, RefSeq RNA:NM_152230, UniProtKB:Q8NFU5 No chr10 59951278 60027694 58191517 58269837 +PA134936197 51194 HGNC:20628 ENSG00000086200 importin 11 IPO11 RanBP11 Yes No Comparative Toxicogenomics Database:51194, Ensembl:ENSG00000086200, GeneCard:IPO11, HGNC:HGNC:20628, HumanCyc Gene:HS01524, ModBase:Q9UI26, NCBI Gene:51194, OMIM:610889, RefSeq DNA:NT_006713, RefSeq Protein:NP_001128251, RefSeq Protein:NP_057422, RefSeq RNA:NM_001134779, RefSeq RNA:NM_016338, UniProtKB:B4DZ73, UniProtKB:Q9UI26 No chr5 61699522 61924416 62412746 62628589 +PA134981096 9670 HGNC:16853 ENSG00000117408 importin 13 IPO13 IMP13, KIAA0724, RANBP13 Yes No Ensembl:ENSG00000117408, GeneCard:IPO13, HGNC:HGNC:16853, HumanCyc Gene:HS04128, ModBase:O94829, NCBI Gene:9670, OMIM:610411, RefSeq DNA:NT_032977, RefSeq Protein:NP_055467, RefSeq RNA:NM_014652, UniProtKB:O94829 No chr1 44412478 44433694 43946806 43968022 +PA134968932 79711 HGNC:19426 ENSG00000196497 importin 4 IPO4 FLJ23338, Imp4 Yes No Comparative Toxicogenomics Database:79711, Ensembl:ENSG00000196497, GeneCard:IPO4, HGNC:HGNC:19426, ModBase:Q8TEX9, NCBI Gene:79711, RefSeq DNA:NT_026437, RefSeq Protein:NP_078934, RefSeq RNA:NM_024658, UniProtKB:B3KT38, UniProtKB:Q8TEX9 No chr14 24649425 24658124 24180219 24188918 +PA30193 3843 HGNC:6402 ENSG00000065150 importin 5 IPO5 Kap beta3 import receptor, PSE1 homolog (S. cerevisiae) IMB3, KPNB3, MGC2068, Pse1, RANBP5 Yes No Comparative Toxicogenomics Database:3843, Ensembl:ENSG00000065150, GenAtlas:RANBP5, GeneCard:IPO5, GeneCard:RANBP5, HGNC:HGNC:6402, HumanCyc Gene:HS00831, NCBI Gene:3843, OMIM:602008, RefSeq DNA:NT_009952, RefSeq Protein:NP_002262, RefSeq RNA:NM_002271, UCSC Genome Browser:NM_002271, UniProtKB:B3KWG6, UniProtKB:O00410, UniProtKB:Q9BVS9 No chr13 98605914 98676550 97953641 98024296 +PA34213 10527 HGNC:9852 ENSG00000205339 importin 7 IPO7 Imp7, RANBP7 Yes No Ensembl:ENSG00000205339, GeneCard:IPO7, HGNC:HGNC:9852, HumanCyc Gene:HS09402, ModBase:O95373, NCBI Gene:10527, OMIM:605586, RefSeq DNA:NT_009237, RefSeq Protein:NP_006382, RefSeq RNA:NM_006391, UCSC Genome Browser:NM_006391, UniProtKB:B3KNG9, UniProtKB:O95373 No chr11 9406169 9469674 9384622 9448127 +PA34214 10526 HGNC:9853 ENSG00000133704 importin 8 IPO8 IMP8, RANBP8 Yes No Comparative Toxicogenomics Database:10526, Ensembl:ENSG00000133704, GeneCard:IPO8, HGNC:HGNC:9853, HumanCyc Gene:HS05780, ModBase:O15397, NCBI Gene:10526, OMIM:605600, RefSeq DNA:NT_009714, RefSeq Protein:NP_001177924, RefSeq Protein:NP_006381, RefSeq RNA:NM_001190995, RefSeq RNA:NM_006390, UCSC Genome Browser:NM_006390, UniProtKB:O15397 No chr12 30781915 30848929 30628981 30695995 +PA134930111 55705 HGNC:19425 ENSG00000198700 importin 9 IPO9 FLJ10402, Imp9 Yes No Ensembl:ENSG00000198700, GeneCard:IPO9, HGNC:HGNC:19425, ModBase:Q96P70, NCBI Gene:55705, RefSeq DNA:NT_004487, RefSeq Protein:NP_060555, RefSeq RNA:NM_018085, UniProtKB:Q96P70 No chr1 201798288 201853422 201829160 201884294 +PA29908 3652 HGNC:6108 ENSG00000197429 intracisternal A particle-promoted polypeptide IPP kelch-like family member 27 KLHL27 Yes No Comparative Toxicogenomics Database:3652, Ensembl:ENSG00000197429, GenAtlas:IPP, GeneCard:IPP, HGNC:HGNC:6108, ModBase:Q9Y573, NCBI Gene:3652, OMIM:147485, RefSeq DNA:NT_032977, RefSeq Protein:NP_001138821, RefSeq Protein:NP_005888, RefSeq RNA:NM_001145349, RefSeq RNA:NM_005897, UCSC Genome Browser:NM_005897, UniProtKB:A2A6V3, UniProtKB:Q8N5C3, UniProtKB:Q9Y573 No chr1 46159996 46216485 45694324 45750813 +PA25970 64768 HGNC:14645 ENSG00000127080 inositol-pentakisphosphate 2-kinase IPPK inositol 1,3,4,5,6-pentakisphosphate 2-kinase C9orf12, FLJ13163, INSP5K2, IP5K, IPK1 Yes No Ensembl:ENSG00000127080, GenAtlas:IPPK, GeneCard:IPPK, HGNC:HGNC:14645, HumanCyc Gene:HS05071, ModBase:Q9H8X2, NCBI Gene:64768, RefSeq DNA:NT_008470, RefSeq Protein:NP_073592, RefSeq RNA:NM_022755, UCSC Genome Browser:NM_022755, UniProtKB:B3KVX7, UniProtKB:Q9H8X2 No chr9 95375466 95432547 92613184 92670265 +PA29909 3653 HGNC:6109 imprinted in Prader-Willi syndrome (non-protein coding) IPW non-protein coding RNA 2 NCRNA00002 Yes No GenAtlas:IPW, GeneCard:IPW, HGNC:HGNC:6109, NCBI Gene:3653, OMIM:601491, RefSeq DNA:NG_002690, RefSeq DNA:NG_021193, RefSeq DNA:NT_026446, RefSeq RNA:NR_023915 No chr15 25360745 25367623 25116545 25122476 +PA166181547 642574 HGNC:49576 ENSG00000203499 IQ motif and ankyrin repeat containing 1 IQANK1 Chemoresistance Associated CRC lncRNA CACClnc, FAM83H-AS1, onco-lncRNA-3 Yes No Ensembl:ENSG00000203499, HGNC:HGNC:49576, NCBI Gene:642574 No 0 0 0 0 +PA162392257 79781 HGNC:26195 ENSG00000132321 IQ motif containing with AAA domain 1 IQCA1 dynein regulatory complex subunit 11 DRC11, FLJ22527, IQCA Yes No Ensembl:ENSG00000132321, GeneCard:IQCA1, HGNC:HGNC:26195, HumanCyc Gene:HS05616, NCBI Gene:79781, RefSeq DNA:NT_005120, RefSeq Protein:NP_079002, RefSeq RNA:NM_024726, UniProtKB:Q86XH1 No chr2 237232790 237416178 236324147 236507558 +PA166123696 102723607, 392843 HGNC:22831 ENSG00000278685 IQ motif containing with AAA domain 1 like IQCA1L IQCA1P1, TCAG_9762 Yes No Ensembl:ENSG00000278685, HGNC:HGNC:22831, NCBI Gene:102723607, NCBI Gene:392843 No +PA134869761 9657 HGNC:28949 ENSG00000173226 IQ motif containing B1 IQCB1 nephrocystin-5 KIAA0036, NPHP5, SLSN5 Yes No Comparative Toxicogenomics Database:9657, Ensembl:ENSG00000173226, GeneCard:IQCB1, HGNC:HGNC:28949, HumanCyc Gene:HS16187, ModBase:Q15051, NCBI Gene:9657, OMIM:609237, OMIM:609254, RefSeq DNA:NG_015887, RefSeq DNA:NT_005612, RefSeq Protein:NP_001018864, RefSeq Protein:NP_001018865, RefSeq RNA:NM_001023570, RefSeq RNA:NM_001023571, UniProtKB:Q15051, UniProtKB:Q3KS08 No chr3 121488608 121553926 121769761 121835079 +PA134969293 340192 HGNC:17727 ENSG00000217539 IQ motif containing B2 pseudogene IQCB2P KIAA0036 pseudogene dJ313I6.1 Yes No Ensembl:ENSG00000217539, GeneCard:IQCB2P, HGNC:HGNC:17727, NCBI Gene:340192 No chr6 27978329 27980680 28010551 28012902 +PA134868161 55721 HGNC:25545 ENSG00000160051 IQ motif containing C IQCC FLJ10547 Yes No Ensembl:ENSG00000160051, GeneCard:IQCC, HGNC:HGNC:25545, HumanCyc Gene:HS14789, NCBI Gene:55721, RefSeq DNA:NT_032977, RefSeq Protein:NP_001153514, RefSeq Protein:NP_060604, RefSeq RNA:NM_001160042, RefSeq RNA:NM_018134, UniProtKB:Q4KMZ1 No chr1 32671236 32674288 32205635 32208687 +PA134901058 115811 HGNC:25168 ENSG00000166578 IQ motif containing D IQCD dynein regulatory complex subunit 10 CFAP84, DRC10 Yes No Comparative Toxicogenomics Database:115811, Ensembl:ENSG00000166578, GeneCard:IQCD, HGNC:HGNC:25168, HumanCyc Gene:HS15461, NCBI Gene:115811, RefSeq DNA:NT_009775, RefSeq Protein:NP_612460, RefSeq RNA:NM_138451, UniProtKB:Q96DY2 No chr12 113633246 113659086 113195441 113221344 +PA134894706 23288 HGNC:29171 ENSG00000106012 IQ motif containing E IQCE KIAA1023 Yes No Ensembl:ENSG00000106012, GeneCard:IQCE, HGNC:HGNC:29171, HumanCyc Gene:HS12621, ModBase:Q6IPM2, NCBI Gene:23288, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001093860, RefSeq Protein:NP_689771, RefSeq RNA:NM_001100390, RefSeq RNA:NM_152558, UniProtKB:Q6IPM2 No chr7 2598617 2654368 2558972 2614734 +PA134895829 132141 HGNC:28607 ENSG00000173389 IQ motif containing F1 IQCF1 MGC39725 Yes No Ensembl:ENSG00000173389, GeneCard:IQCF1, HGNC:HGNC:28607, HumanCyc Gene:HS16205, ModBase:Q8N6M8, NCBI Gene:132141, RefSeq DNA:NT_022517, RefSeq Protein:NP_689610, RefSeq RNA:NM_152397, UniProtKB:Q8N6M8 No chr3 51928892 51937386 51894876 51903370 +PA134900355 389123 HGNC:31815 ENSG00000184345 IQ motif containing F2 IQCF2 Yes No Ensembl:ENSG00000184345, GeneCard:IQCF2, HGNC:HGNC:31815, ModBase:Q8IXL9, NCBI Gene:389123, RefSeq DNA:NT_022517, RefSeq Protein:NP_982248, RefSeq RNA:NM_203424, UniProtKB:Q8IXL9 No chr3 51895645 51897440 51861629 51863424 +PA134884625 401067 HGNC:31816 ENSG00000229972 IQ motif containing F3 IQCF3 Yes No Ensembl:ENSG00000229972, GeneCard:IQCF3, HGNC:HGNC:31816, ModBase:P0C7M6, NCBI Gene:401067, RefSeq DNA:NT_022517, RefSeq Protein:NP_001078948, RefSeq Protein:NP_001193952, RefSeq RNA:NM_001085479, RefSeq RNA:NM_001207023, UniProtKB:B2RUV0, UniProtKB:P0C7M6 No chr3 51860899 51864874 51826883 51830858 +PA164721062 389124 HGNC:35159 ENSG00000214681 IQ motif containing F5 IQCF5 Yes No Ensembl:ENSG00000214681, GeneCard:IQCF5, HGNC:HGNC:35159, ModBase:A8MTL0, NCBI Gene:389124, RefSeq DNA:NT_022517, RefSeq Protein:NP_001138531, RefSeq RNA:NM_001145059, UniProtKB:A8MTL0 No chr3 51907737 51909600 51873721 51875584 +PA164721071 440956 HGNC:35158 ENSG00000214686 IQ motif containing F6 IQCF6 Yes No Ensembl:ENSG00000214686, GeneCard:IQCF6, HGNC:HGNC:35158, NCBI Gene:440956, RefSeq DNA:NT_022517, RefSeq Protein:NP_001137305, RefSeq RNA:NM_001143833 No chr3 51812577 51813256 51778561 51779791 +PA134919040 84223 HGNC:25251 ENSG00000114473 IQ motif containing G IQCG dynein regulatory complex subunit 9 CFAP122, DKFZp434B227, DRC9 Yes No Ensembl:ENSG00000114473, GeneCard:IQCG, HGNC:HGNC:25251, HumanCyc Gene:HS12818, ModBase:Q9H095, NCBI Gene:84223, OMIM:612477, RefSeq DNA:NT_029928, RefSeq Protein:NP_001127907, RefSeq Protein:NP_115639, RefSeq RNA:NM_001134435, RefSeq RNA:NM_032263, UniProtKB:Q9H095, UniProtKB:Q9H5C8 No chr3 197615946 197686982 197889075 197960019 +PA142671654 64799 HGNC:25721 ENSG00000103599 IQ motif containing H IQCH FLJ12476 Yes No Comparative Toxicogenomics Database:64799, Ensembl:ENSG00000103599, GeneCard:IQCH, HGNC:HGNC:25721, HumanCyc Gene:HS02523, ModBase:Q86VS3, NCBI Gene:64799, OMIM:612523, RefSeq DNA:NT_010194, RefSeq Protein:NP_001026885, RefSeq Protein:NP_073621, RefSeq RNA:NM_001031715, RefSeq RNA:NM_022784, UniProtKB:D6RJ88, UniProtKB:Q86VS3 No chr15 67547138 67794142 67254772 67501804 +PA143485504 654502 HGNC:32406 ENSG00000214216 IQ motif containing J IQCJ Yes No Ensembl:ENSG00000214216, GeneCard:IQCJ, HGNC:HGNC:32406, NCBI Gene:654502, OMIM:611622, RefSeq DNA:NT_005612, RefSeq Protein:NP_001036170, RefSeq Protein:NP_001036171, RefSeq Protein:NP_001184029, RefSeq RNA:NM_001042705, RefSeq RNA:NM_001042706, RefSeq RNA:NM_001197100, UniProtKB:Q1A5X6 No chr3 158787041 158984096 159069252 159266307 +PA145148697 124152 HGNC:28556 ENSG00000174628 IQ motif containing K IQCK FLJ36575, MGC35048 Yes No Ensembl:ENSG00000174628, GeneCard:IQCK, HGNC:HGNC:28556, HumanCyc Gene:HS16374, ModBase:Q8N0W5, NCBI Gene:124152, RefSeq DNA:NT_010393, RefSeq Protein:NP_694940, RefSeq RNA:NM_153208, UniProtKB:Q8N0W5 No chr16 19727778 19869087 19716456 19858467 +PA166181548 285423 HGNC:53443 ENSG00000234828 IQ motif containing M IQCM Yes No Ensembl:ENSG00000234828, HGNC:HGNC:53443, NCBI Gene:285423 No 0 0 0 0 +PA134952902 80726 HGNC:29350 ENSG00000130518 IQ motif containing N IQCN KIAA1683 Yes No Ensembl:ENSG00000130518, GeneCard:KIAA1683, HGNC:HGNC:29350, ModBase:Q9H0B3, NCBI Gene:80726, RefSeq DNA:NT_011295, RefSeq Protein:NP_001138776, RefSeq Protein:NP_001138777, RefSeq Protein:NP_079525, RefSeq RNA:NM_001145304, RefSeq RNA:NM_001145305, RefSeq RNA:NM_025249, UniProtKB:A0JP07, UniProtKB:B4DYH2, UniProtKB:Q2KHR5, UniProtKB:Q9H0B3 No chr19 18367906 18385319 18257096 18274509 +PA29910 8826 HGNC:6110 ENSG00000140575 IQ motif containing GTPase activating protein 1 IQGAP1 RasGAP-like with IQ motifs HUMORFA01, KIAA0051, SAR1, p195 Yes No Comparative Toxicogenomics Database:8826, Ensembl:ENSG00000140575, GenAtlas:IQGAP1, GeneCard:IQGAP1, HGNC:HGNC:6110, HumanCyc Gene:HS06742, ModBase:P46940, NCBI Gene:8826, OMIM:603379, RefSeq DNA:NT_010274, RefSeq Protein:NP_003861, RefSeq RNA:NM_003870, UCSC Genome Browser:NM_003870, UniProtKB:P46940 No chr15 90931473 91045475 90388241 90502243 +PA29911 10788 HGNC:6111 ENSG00000145703 IQ motif containing GTPase activating protein 2 IQGAP2 Yes No Comparative Toxicogenomics Database:10788, Ensembl:ENSG00000145703, GenAtlas:IQGAP2, GeneCard:IQGAP2, HGNC:HGNC:6111, HumanCyc Gene:HS07274, ModBase:Q13576, NCBI Gene:10788, OMIM:605401, RefSeq DNA:NT_006713, RefSeq Protein:NP_006624, RefSeq RNA:NM_006633, UCSC Genome Browser:NM_006633, UniProtKB:Q13576, UniProtKB:Q59HA3 No chr5 75699131 76003957 76403255 76708132 +PA134954177 128239 HGNC:20669 ENSG00000183856 IQ motif containing GTPase activating protein 3 IQGAP3 Yes No Comparative Toxicogenomics Database:128239, Ensembl:ENSG00000183856, GeneCard:IQGAP3, HGNC:HGNC:20669, ModBase:Q86VI3, NCBI Gene:128239, RefSeq DNA:NT_004487, RefSeq Protein:NP_839943, RefSeq RNA:NM_178229, UniProtKB:Q86VI3 No chr1 156495197 156542396 156525405 156572604 +PA128394566 9922 HGNC:29112 ENSG00000144711 IQ motif and Sec7 domain ArfGEF 1 IQSEC1 IQ motif and Sec7 domain 1, brefeldin A-resistant ARF-GEF2 ARF-GEP100, BRAG2, GEP100, KIAA0763 Yes No Ensembl:ENSG00000144711, GeneCard:IQSEC1, HGNC:HGNC:29112, HumanCyc Gene:HS14044, ModBase:Q6DN90, NCBI Gene:9922, OMIM:610166, RefSeq DNA:NT_022517, RefSeq Protein:NP_001127854, RefSeq Protein:NP_055684, RefSeq RNA:NM_001134382, RefSeq RNA:NM_014869, UCSC Genome Browser:NM_014869, UniProtKB:B4DGC5, UniProtKB:Q6DN90 No chr3 12938542 13114652 12897043 13282998 +PA134870898 23096 HGNC:29059 ENSG00000124313 IQ motif and Sec7 domain ArfGEF 2 IQSEC2 IQ motif and Sec7 domain 2, brefeldin A resistant Arf-guanine nucleotide exchange factor 1 BRAG1, IQ-ArfGEF, KIAA0522, MRX1, MRX18, MRX78 Yes No Ensembl:ENSG00000124313, GeneCard:IQSEC2, HGNC:HGNC:29059, ModBase:Q5JU85, NCBI Gene:23096, OMIM:300522, RefSeq DNA:NG_021296, RefSeq DNA:NT_011630, RefSeq Protein:NP_001104595, RefSeq Protein:NP_055890, RefSeq RNA:NM_001111125, RefSeq RNA:NM_015075, RefSeq RNA:NR_024449, UniProtKB:B3KT97, UniProtKB:Q5JU85, UniProtKB:Q5JUX1 No chrX 53262058 53350522 53225784 53321350 +PA134990290 440073 HGNC:29193 ENSG00000120645 IQ motif and Sec7 domain ArfGEF 3 IQSEC3 IQ motif and Sec7 domain 3 KIAA1110, MGC30156 Yes No Ensembl:ENSG00000120645, GeneCard:IQSEC3, HGNC:HGNC:29193, NCBI Gene:440073, OMIM:612118, RefSeq DNA:NT_009759, RefSeq Protein:NP_001164209, RefSeq Protein:NP_056047, RefSeq RNA:NM_001170738, RefSeq RNA:NM_015232, UniProtKB:Q9UPP2 No chr12 176049 287626 66794 178460 +PA162392258 154865 HGNC:21995 ENSG00000164675 IQ motif and ubiquitin domain containing IQUB FLJ35834 Yes No Ensembl:ENSG00000164675, GeneCard:IQUB, HGNC:HGNC:21995, ModBase:Q8NA54, NCBI Gene:154865, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_849149, RefSeq RNA:NM_178827, UniProtKB:Q8NA54 No chr7 123091993 123174718 123452181 123535077 +PA31032 10335 HGNC:7237 inositol 1,4,5-triphosphate receptor associated 1 IRAG1 """IP3R-associated cGMP kinase substrate"", ""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""murine retrovirus integration site 1 homolog""" IRAG, JAW1L, MRVI1 Yes No Comparative Toxicogenomics Database:10335, GenAtlas:MRVI1, GeneCard:MRVI1, HGNC:HGNC:7237, HumanCyc Gene:HS01088, NCBI Gene:10335, OMIM:604673, RefSeq DNA:NT_009237, RefSeq Protein:NP_001092049, RefSeq Protein:NP_001093633, RefSeq Protein:NP_001093637, RefSeq Protein:NP_001193809, RefSeq Protein:NP_001193810, RefSeq Protein:NP_569056, RefSeq RNA:NM_001098579, RefSeq RNA:NM_001100163, RefSeq RNA:NM_001100167, RefSeq RNA:NM_001206880, RefSeq RNA:NM_001206881, RefSeq RNA:NM_130385, UCSC Genome Browser:NM_006069, UniProtKB:Q17S00, UniProtKB:Q9Y6F6 No chr11 10594638 10715535 10573091 10693988 +PA30450 4033 HGNC:6690 inositol 1,4,5-triphosphate receptor associated 2 IRAG2 lymphoid restricted membrane protein, lymphoid-restricted membrane protein JAW1, LRMP Yes No Comparative Toxicogenomics Database:4033, GenAtlas:LRMP, GeneCard:LRMP, HGNC:HGNC:6690, HumanCyc Gene:HS04212, NCBI Gene:4033, OMIM:602003, RefSeq DNA:NT_009714, RefSeq Protein:NP_001191055, RefSeq Protein:NP_001191056, RefSeq Protein:NP_006143, RefSeq RNA:NM_001204126, RefSeq RNA:NM_001204127, RefSeq RNA:NM_006152, UCSC Genome Browser:NM_006152, UniProtKB:Q12912 No chr12 25205181 25261269 25052101 25108335 +PA29912 3654 HGNC:6112 ENSG00000184216 interleukin 1 receptor associated kinase 1 IRAK1 interleukin-1 receptor-associated kinase 1 IRAK, pelle Yes No Comparative Toxicogenomics Database:3654, Ensembl:ENSG00000184216, GenAtlas:IRAK1, GeneCard:IRAK1, HGNC:HGNC:6112, HumanCyc Gene:HS00022, ModBase:P51617, NCBI Gene:3654, OMIM:300283, RefSeq DNA:NG_008387, RefSeq DNA:NT_167198, RefSeq Protein:NP_001020413, RefSeq Protein:NP_001020414, RefSeq Protein:NP_001560, RefSeq RNA:NM_001025242, RefSeq RNA:NM_001025243, RefSeq RNA:NM_001569, UCSC Genome Browser:NM_001569, UniProtKB:P51617, UniProtKB:Q96C06 No chrX 153275957 153285342 154010506 154019906 +PA134919096 134728 HGNC:17368 ENSG00000146243 interleukin 1 receptor associated kinase 1 binding protein 1 IRAK1BP1 interleukin-1 receptor-associated kinase 1 binding protein 1 AIP70, SIMPL Yes No Ensembl:ENSG00000146243, GeneCard:IRAK1BP1, HGNC:HGNC:17368, ModBase:Q5VVH5, NCBI Gene:134728, RefSeq DNA:NT_007299, RefSeq Protein:NP_001010844, RefSeq RNA:NM_001010844, UniProtKB:Q5VVH5 No chr6 79577261 79714545 78867486 78979411 +PA29913 3656 HGNC:6113 ENSG00000134070 interleukin 1 receptor associated kinase 2 IRAK2 interleukin-1 receptor-associated kinase 2 Yes No Comparative Toxicogenomics Database:3656, Ensembl:ENSG00000134070, GenAtlas:IRAK2, GeneCard:IRAK2, HGNC:HGNC:6113, HumanCyc Gene:HS05814, ModBase:O43187, NCBI Gene:3656, OMIM:603304, RefSeq DNA:NT_022517, RefSeq Protein:NP_001561, RefSeq RNA:NM_001570, UCSC Genome Browser:NM_001570, UniProtKB:O43187 No chr3 10206561 10285427 10164879 10243743 +PA38431 11213 HGNC:17020 ENSG00000090376 interleukin 1 receptor associated kinase 3 IRAK3 interleukin-1 receptor-associated kinase 3 IRAK-M Yes No Comparative Toxicogenomics Database:11213, Ensembl:ENSG00000090376, GenAtlas:IRAK3, GeneCard:IRAK3, HGNC:HGNC:17020, HumanCyc Gene:HS01686, ModBase:Q9Y616, NCBI Gene:11213, OMIM:604459, OMIM:611064, RefSeq DNA:NG_021194, RefSeq DNA:NT_029419, RefSeq Protein:NP_001135995, RefSeq Protein:NP_009130, RefSeq RNA:NM_001142523, RefSeq RNA:NM_007199, UCSC Genome Browser:NM_007199, UniProtKB:B4DQ57, UniProtKB:Q9Y616 No chr12 66582978 66648402 66189198 66254622 +PA134914577 51135 HGNC:17967 ENSG00000198001 interleukin 1 receptor associated kinase 4 IRAK4 interleukin-1 receptor-associated kinase 4 NY-REN-64 Yes No Comparative Toxicogenomics Database:51135, Ensembl:ENSG00000198001, GeneCard:IRAK4, HGNC:HGNC:17967, HumanCyc Gene:HS03405, ModBase:Q9NWZ3, NCBI Gene:51135, OMIM:606883, OMIM:607676, OMIM:610799, RefSeq DNA:NG_009892, RefSeq DNA:NT_029419, RefSeq Protein:NP_001107654, RefSeq Protein:NP_001138728, RefSeq Protein:NP_001138729, RefSeq Protein:NP_001138730, RefSeq Protein:NP_057207, RefSeq RNA:NM_001114182, RefSeq RNA:NM_001145256, RefSeq RNA:NM_001145257, RefSeq RNA:NM_001145258, RefSeq RNA:NM_016123, UniProtKB:B2RAP9, UniProtKB:B4E359, UniProtKB:Q69FE1, UniProtKB:Q69FE3, UniProtKB:Q9NWZ3 No chr12 44152747 44183346 43758913 43789543 +PA29914 3658 HGNC:6115 ENSG00000136381 iron responsive element binding protein 2 IREB2 iron-responsive element binding protein 2 IRP2 Yes No Comparative Toxicogenomics Database:3658, Ensembl:ENSG00000136381, GenAtlas:IREB2, GeneCard:IREB2, HGNC:HGNC:6115, HumanCyc Gene:HS06155, ModBase:P48200, NCBI Gene:3658, OMIM:147582, RefSeq DNA:NT_010194, RefSeq Protein:NP_004127, RefSeq RNA:NM_004136, UniProtKB:P48200 No chr15 78730518 78793798 78438176 78501456 +PA29915 3659 HGNC:6116 ENSG00000125347 interferon regulatory factor 1 IRF1 interferon regulatory factor-1 MAR Yes No Comparative Toxicogenomics Database:3659, Ensembl:ENSG00000125347, GenAtlas:IRF1, GeneCard:IRF1, HGNC:HGNC:6116, HumanCyc Gene:HS04871, ModBase:P10914, NCBI Gene:3659, OMIM:137215, OMIM:147575, OMIM:153550, OMIM:211980, RefSeq DNA:NG_011450, RefSeq DNA:NT_034772, RefSeq Protein:NP_002189, RefSeq RNA:NM_002198, UCSC Genome Browser:NM_002198, UniProtKB:P10914, UniProtKB:Q6FHN8 No chr5 131817301 131826465 132481609 132490789 +PA29916 3660 HGNC:6117 ENSG00000168310 interferon regulatory factor 2 IRF2 Yes No Comparative Toxicogenomics Database:3660, Ensembl:ENSG00000168310, GenAtlas:IRF2, GeneCard:IRF2, HGNC:HGNC:6117, HumanCyc Gene:HS09734, ModBase:P14316, NCBI Gene:3660, OMIM:147576, RefSeq DNA:NT_016354, RefSeq Protein:NP_002190, RefSeq RNA:NM_002199, UCSC Genome Browser:NM_002199, UniProtKB:P14316, UniProtKB:Q6IAS7 No chr4 185308867 185395734 184387722 184474572 +PA134987893 26145 HGNC:21728 ENSG00000170604 interferon regulatory factor 2 binding protein 1 IRF2BP1 DKFZP434M154, IRF-2BP1 Yes No Ensembl:ENSG00000170604, GeneCard:IRF2BP1, HGNC:HGNC:21728, HumanCyc Gene:HS15900, ModBase:Q8IU81, NCBI Gene:26145, RefSeq DNA:NT_011109, RefSeq Protein:NP_056464, RefSeq RNA:NM_015649, UniProtKB:Q8IU81 No chr19 46386866 46389376 45883607 45886170 +PA134947294 359948 HGNC:21729 ENSG00000168264 interferon regulatory factor 2 binding protein 2 IRF2BP2 IRF-2BP2 Yes No Comparative Toxicogenomics Database:359948, Ensembl:ENSG00000168264, GeneCard:IRF2BP2, HGNC:HGNC:21729, NCBI Gene:359948, RefSeq DNA:NT_167186, RefSeq Protein:NP_001070865, RefSeq Protein:NP_892017, RefSeq RNA:NM_001077397, RefSeq RNA:NM_182972, UniProtKB:Q7Z5L9 No chr1 234740015 234745271 234604269 234609525 +PA25516 64207 HGNC:14282 ENSG00000119669 interferon regulatory factor 2 binding protein like IRF2BPL enhanced at puberty 1, interferon regulatory factor 2 binding protein-like C14orf4, EAP1, KIAA1865 Yes No Ensembl:ENSG00000119669, GenAtlas:C14orf4, GeneCard:C14orf4, HGNC:HGNC:14282, HumanCyc Gene:HS04317, ModBase:Q9H1B7, NCBI Gene:64207, OMIM:611720, RefSeq DNA:NT_026437, RefSeq Protein:NP_078772, RefSeq RNA:NM_024496, UCSC Genome Browser:NM_024496, UniProtKB:Q9H1B7 No chr14 77490886 77495042 77024543 77028699 +PA29917 3661 HGNC:6118 ENSG00000126456 interferon regulatory factor 3 IRF3 Yes No Comparative Toxicogenomics Database:3661, Ensembl:ENSG00000126456, GenAtlas:IRF3, GeneCard:IRF3, HGNC:HGNC:6118, HumanCyc Gene:HS05018, ModBase:Q14653, NCBI Gene:3661, OMIM:603734, RefSeq DNA:NT_011109, RefSeq Protein:NP_001184051, RefSeq Protein:NP_001184052, RefSeq Protein:NP_001184053, RefSeq Protein:NP_001184054, RefSeq Protein:NP_001184055, RefSeq Protein:NP_001184056, RefSeq Protein:NP_001184057, RefSeq Protein:NP_001562, RefSeq RNA:NM_001197122, RefSeq RNA:NM_001197123, RefSeq RNA:NM_001197124, RefSeq RNA:NM_001197125, RefSeq RNA:NM_001197126, RefSeq RNA:NM_001197127, RefSeq RNA:NM_001197128, RefSeq RNA:NM_001571, UCSC Genome Browser:NM_001571, UniProtKB:Q14653 No chr19 50162826 50169132 49659569 49665875 +PA29918 3662 HGNC:6119 ENSG00000137265 interferon regulatory factor 4 IRF4 LSIRF, MUM1 Yes No Comparative Toxicogenomics Database:3662, Ensembl:ENSG00000137265, GenAtlas:IRF4, GeneCard:IRF4, HGNC:HGNC:6119, HumanCyc Gene:HS06299, ModBase:Q15306, NCBI Gene:3662, OMIM:601900, RefSeq DNA:NT_007592, RefSeq Protein:NP_001182215, RefSeq Protein:NP_002451, RefSeq RNA:NM_001195286, RefSeq RNA:NM_002460, RefSeq RNA:NR_036585, UCSC Genome Browser:NM_002460, UniProtKB:Q15306 No chr6 391739 411443 391739 411443 +PA29919 3663 HGNC:6120 ENSG00000128604 interferon regulatory factor 5 IRF5 IRF-5 Yes No Comparative Toxicogenomics Database:3663, Ensembl:ENSG00000128604, GenAtlas:IRF5, GeneCard:IRF5, HGNC:HGNC:6120, HumanCyc Gene:HS05203, ModBase:Q13568, NCBI Gene:3663, OMIM:607218, OMIM:612245, OMIM:612251, RefSeq DNA:NG_012306, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001092097, RefSeq Protein:NP_001092098, RefSeq Protein:NP_001092099, RefSeq Protein:NP_001092100, RefSeq Protein:NP_001092101, RefSeq Protein:NP_001229381, RefSeq Protein:NP_002191, RefSeq Protein:NP_116032, RefSeq RNA:NM_001098627, RefSeq RNA:NM_001098628, RefSeq RNA:NM_001098629, RefSeq RNA:NM_001098630, RefSeq RNA:NM_001098631, RefSeq RNA:NM_001242452, RefSeq RNA:NM_002200, RefSeq RNA:NM_032643, UCSC Genome Browser:NM_002200, UniProtKB:Q13568, UniProtKB:Q64GB1, UniProtKB:Q64GB2 No chr7 128577976 128590089 128937737 128950042 +PA29920 3664 HGNC:6121 ENSG00000117595 interferon regulatory factor 6 IRF6 LPS, OFC6, VWS, VWS1 Yes Yes Comparative Toxicogenomics Database:3664, Ensembl:ENSG00000117595, GenAtlas:IRF6, GeneCard:IRF6, HGNC:HGNC:6121, HumanCyc Gene:HS04155, ModBase:O14896, NCBI Gene:3664, OMIM:119300, OMIM:119500, OMIM:607199, OMIM:608864, RefSeq DNA:NG_007081, RefSeq DNA:NT_167186, RefSeq Protein:NP_001193625, RefSeq Protein:NP_006138, RefSeq RNA:NM_001206696, RefSeq RNA:NM_006147, UCSC Genome Browser:NM_006147, UniProtKB:O14896 No chr1 209958968 209979520 209785623 209806175 +PA29921 3665 HGNC:6122 ENSG00000185507 interferon regulatory factor 7 IRF7 Yes No Comparative Toxicogenomics Database:3665, Ensembl:ENSG00000185507, GenAtlas:IRF7, GeneCard:IRF7, HGNC:HGNC:6122, ModBase:Q92985, NCBI Gene:3665, OMIM:605047, RefSeq DNA:NT_009237, RefSeq Protein:NP_001563, RefSeq Protein:NP_004020, RefSeq Protein:NP_004022, RefSeq RNA:NM_001572, RefSeq RNA:NM_004029, RefSeq RNA:NM_004031, UCSC Genome Browser:NM_001572, UniProtKB:Q92985 No chr11 612555 615999 612555 615999 +PA29606 3394 HGNC:5358 ENSG00000140968 interferon regulatory factor 8 IRF8 ICSBP, ICSBP1, IRF-8 Yes No Comparative Toxicogenomics Database:3394, Ensembl:ENSG00000140968, GenAtlas:IRF8, GeneCard:IRF8, HGNC:HGNC:5358, HumanCyc Gene:HS06781, ModBase:Q02556, NCBI Gene:3394, OMIM:601565, RefSeq DNA:NT_010498, RefSeq Protein:NP_002154, RefSeq RNA:NM_002163, UCSC Genome Browser:NM_002163, UniProtKB:Q02556 No chr16 85932774 85956212 85899168 85922606 +PA162392259 10379 HGNC:6131 ENSG00000213928 interferon regulatory factor 9 IRF9 ISGF3G Yes No Ensembl:ENSG00000213928, GeneCard:IRF9, HGNC:HGNC:6131, ModBase:Q00978, NCBI Gene:10379, OMIM:147574, RefSeq DNA:NT_026437, RefSeq Protein:NP_006075, RefSeq RNA:NM_006084, UniProtKB:Q00978 No chr14 24630422 24635774 24161213 24166565 +PA142671651 56269 HGNC:28835 ENSG00000124449 immunity related GTPase cinema IRGC immunity-related GTPase family, cinema CINEMA, IRGC1, Iigp5 Yes No Ensembl:ENSG00000124449, GeneCard:IRGC, HGNC:HGNC:28835, HumanCyc Gene:HS13130, ModBase:Q6NXR0, NCBI Gene:56269, RefSeq DNA:NT_011109, RefSeq Protein:NP_062558, RefSeq RNA:NM_019612, UniProtKB:Q6NXR0 No chr19 44220214 44224173 43716062 43720021 +PA142671652 345611 HGNC:29597 ENSG00000237693 immunity related GTPase M IRGM immunity-related GTPase family, M IFI1, IRGM1, LRG-47, LRG47 Yes No Comparative Toxicogenomics Database:345611, Ensembl:ENSG00000237693, GeneCard:IRGM, HGNC:HGNC:29597, NCBI Gene:345611, OMIM:607948, OMIM:608212, RefSeq DNA:NT_029289, RefSeq Protein:NP_001139277, RefSeq RNA:NM_001145805, UniProtKB:A1A4Y4, UniProtKB:B3VEX0 No chr5 150226085 150228231 150846523 150902402 +PA142671653 126298 HGNC:24868 ENSG00000167378 immunity related GTPase Q IRGQ immunity-related GTPase family, Q FKSG27, IRGQ1 Yes No Comparative Toxicogenomics Database:126298, Ensembl:ENSG00000167378, GeneCard:IRGQ, HGNC:HGNC:24868, ModBase:Q8WZA9, NCBI Gene:126298, RefSeq DNA:NT_011109, RefSeq Protein:NP_001007562, RefSeq RNA:NM_001007561, UniProtKB:Q8WZA9 No chr19 44088519 44100287 43584367 43596234 +PA203 3667 HGNC:6125 ENSG00000169047 insulin receptor substrate 1 IRS1 HIRS-1 Yes Yes Comparative Toxicogenomics Database:3667, Ensembl:ENSG00000169047, GenAtlas:IRS1, GeneCard:IRS1, HGNC:HGNC:6125, HumanCyc Gene:HS09873, ModBase:P35568, NCBI Gene:3667, OMIM:125853, OMIM:147545, RefSeq DNA:NG_015830, RefSeq DNA:NT_005403, RefSeq Protein:NP_005535, RefSeq RNA:NM_005544, UCSC Genome Browser:NM_005544, UniProtKB:P35568 No chr2 227596033 227664545 226731317 226798790 +PA375 8660 HGNC:6126 ENSG00000185950 insulin receptor substrate 2 IRS2 Yes No Comparative Toxicogenomics Database:8660, Ensembl:ENSG00000185950, GenAtlas:IRS2, GeneCard:IRS2, HGNC:HGNC:6126, ModBase:Q9Y4H2, NCBI Gene:8660, OMIM:125853, OMIM:600797, RefSeq DNA:NG_008154, RefSeq DNA:NT_009952, RefSeq Protein:NP_003740, RefSeq RNA:NM_003749, UCSC Genome Browser:NM_003749, UniProtKB:Q9Y4H2 No chr13 110406184 110438914 109753837 109786567 +PA29922 442338 HGNC:6127 ENSG00000184414 insulin receptor substrate 3, pseudogene IRS3P Yes No Ensembl:ENSG00000184414, GenAtlas:IRS3L, GeneCard:IRS3P, HGNC:HGNC:6127, NCBI Gene:442338, RefSeq DNA:NG_005538, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595 No chr7 100167816 100169024 100570193 100571401 +PA29923 8471 HGNC:6128 ENSG00000133124 insulin receptor substrate 4 IRS4 IRS-4, PY160 Yes No Comparative Toxicogenomics Database:8471, Ensembl:ENSG00000133124, GenAtlas:IRS4, GeneCard:IRS4, HGNC:HGNC:6128, HumanCyc Gene:HS05038, ModBase:O14654, NCBI Gene:8471, OMIM:603510, RefSeq DNA:NG_013239, RefSeq DNA:NT_011651, RefSeq Protein:NP_003595, RefSeq RNA:NM_003604, UCSC Genome Browser:NM_003604, UniProtKB:O14654 No chrX 107963179 107979643 108719949 108736584 +PA29924 79192 HGNC:14358 ENSG00000170549 iroquois homeobox 1 IRX1 IRX-5 Yes No Ensembl:ENSG00000170549, GenAtlas:IRX1, GeneCard:IRX1, HGNC:HGNC:14358, ModBase:P78414, NCBI Gene:79192, OMIM:606197, RefSeq DNA:NT_006576, RefSeq Protein:NP_077313, RefSeq RNA:NM_024337, UniProtKB:P78414, UniProtKB:Q9BZI1 No chr5 3596168 3601517 3595855 3601403 +PA29925 153572 HGNC:14359 ENSG00000170561 iroquois homeobox 2 IRX2 Yes No Comparative Toxicogenomics Database:153572, Ensembl:ENSG00000170561, GenAtlas:IRX2, GeneCard:IRX2, HGNC:HGNC:14359, ModBase:Q9BZI1, NCBI Gene:153572, OMIM:606198, RefSeq DNA:NT_006576, RefSeq Protein:NP_001127694, RefSeq Protein:NP_150366, RefSeq RNA:NM_001134222, RefSeq RNA:NM_033267 No chr5 2746279 2751769 2707930 2751655 +PA29926 79191 HGNC:14360 ENSG00000177508 iroquois homeobox 3 IRX3 IRX-1 Yes No Comparative Toxicogenomics Database:79191, Ensembl:ENSG00000177508, GenAtlas:IRX3, GeneCard:IRX3, HGNC:HGNC:14360, ModBase:P78415, NCBI Gene:79191, OMIM:612985, RefSeq DNA:NT_010498, RefSeq Protein:NP_077312, RefSeq RNA:NM_024336, UniProtKB:P78415 No chr16 54317212 54320724 54283300 54286772 +PA29927 50805 HGNC:6129 ENSG00000113430 iroquois homeobox 4 IRX4 Yes No Comparative Toxicogenomics Database:50805, Ensembl:ENSG00000113430, GenAtlas:IRX4, GeneCard:IRX4, HGNC:HGNC:6129, HumanCyc Gene:HS03681, ModBase:P78413, NCBI Gene:50805, OMIM:606199, RefSeq DNA:NT_006576, RefSeq Protein:NP_057442, RefSeq RNA:NM_016358, UCSC Genome Browser:NM_016358, UniProtKB:P78413 No chr5 1877541 1887293 1877427 1887179 +PA29928 10265 HGNC:14361 ENSG00000176842 iroquois homeobox 5 IRX5 IRX-2a Yes No Comparative Toxicogenomics Database:10265, Ensembl:ENSG00000176842, GenAtlas:IRX5, GeneCard:IRX5, HGNC:HGNC:14361, HumanCyc Gene:HS11090, ModBase:P78411, NCBI Gene:10265, OMIM:606195, RefSeq DNA:NT_010498, RefSeq Protein:NP_005844, RefSeq RNA:NM_005853, UCSC Genome Browser:NM_005853, UniProtKB:P78411 No chr16 54965111 54968397 54931199 54934485 +PA29929 79190 HGNC:14675 ENSG00000159387 iroquois homeobox 6 IRX6 IRX-3, IRX7 Yes No Ensembl:ENSG00000159387, GeneCard:IRX6, HGNC:HGNC:14675, HumanCyc Gene:HS08396, ModBase:P78412, NCBI Gene:79190, OMIM:606196, RefSeq DNA:NT_010498, RefSeq Protein:NP_077311, RefSeq RNA:NM_024335, UniProtKB:P78412 No chr16 55358406 55364672 55323962 55330760 +PA162392301 81689 HGNC:28660 ENSG00000135070 iron-sulfur cluster assembly 1 ISCA1 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) HBLD2, ISA1, MGC4276, hIscA, hIscA1 Yes No Ensembl:ENSG00000135070, GeneCard:ISCA1, HGNC:HGNC:28660, HumanCyc Gene:HS05947, ModBase:Q9BUE6, NCBI Gene:81689, OMIM:611006, RefSeq DNA:NT_008470, RefSeq Protein:NP_112202, RefSeq RNA:NM_030940, UniProtKB:Q9BUE6 No chr9 88879461 88897676 86264546 86282575 +PA162392314 389293 HGNC:33263 ENSG00000217416 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 1 ISCA1P1 Yes No Ensembl:ENSG00000217416, HGNC:HGNC:33263, NCBI Gene:389293, RefSeq DNA:NT_006713, RefSeq DNA:NT_006713.14, RefSeq Protein:NP_001074009, RefSeq RNA:NM_001080540, RefSeq RNA:NM_001080540.1 No chr5 62071203 62073171 62775376 62777344 +PA162392315 122961 HGNC:19857 ENSG00000165898 iron-sulfur cluster assembly 2 ISCA2 iron-sulfur cluster assembly 2 homolog (S. cerevisiae) HBLD1, ISA2 Yes No Ensembl:ENSG00000165898, GeneCard:ISCA2, HGNC:HGNC:19857, HumanCyc Gene:HS09298, NCBI Gene:122961, RefSeq DNA:NT_026437, RefSeq Protein:NP_919255, RefSeq RNA:NM_194279, UniProtKB:Q86U28 No chr14 74960423 74962271 74493720 74495568 +PA162392328 23479 HGNC:29882 ENSG00000136003 iron-sulfur cluster assembly enzyme ISCU iron-sulfur cluster scaffold homolog (E. coli) ISU2, IscU, NIFUN, hnifU Yes No Ensembl:ENSG00000136003, GeneCard:ISCU, HGNC:HGNC:29882, HumanCyc Gene:HS06099, ModBase:Q9H1K1, NCBI Gene:23479, OMIM:255125, OMIM:611911, RefSeq DNA:NG_011857, RefSeq DNA:NT_029419, RefSeq Protein:NP_055116, RefSeq Protein:NP_998760, RefSeq RNA:NM_014301, RefSeq RNA:NM_213595, UniProtKB:Q9H1K1 No chr12 108955239 108963160 108561463 108569384 +PA28465 9636 HGNC:4053 ENSG00000187608 ISG15 ubiquitin like modifier ISG15 ISG15 ubiquitin-like modifier G1P2, IFI15, UCRP Yes No Comparative Toxicogenomics Database:9636, Ensembl:ENSG00000187608, GenAtlas:ISG15, GeneCard:ISG15, HGNC:HGNC:4053, ModBase:P05161, NCBI Gene:9636, OMIM:147571, RefSeq DNA:NT_004350, RefSeq Protein:NP_005092, RefSeq RNA:NM_005101, UCSC Genome Browser:NM_005101, UniProtKB:P05161 No chr1 948847 949920 1013467 1014540 +PA29930 3669 HGNC:6130 ENSG00000172183 interferon stimulated exonuclease gene 20 ISG20 interferon stimulated exonuclease gene 20kDa CD25, HEM45 Yes No Comparative Toxicogenomics Database:3669, Ensembl:ENSG00000172183, GenAtlas:ISG20, GeneCard:ISG20, HGNC:HGNC:6130, HumanCyc Gene:HS10465, ModBase:Q96AZ6, NCBI Gene:3669, OMIM:604533, RefSeq DNA:NT_010274, RefSeq Protein:NP_002192, RefSeq RNA:NM_002201, UCSC Genome Browser:NM_002201, UniProtKB:Q96AZ6 No chr15 89178904 89198881 88635614 88656344 +PA142671650 81875 HGNC:25745 ENSG00000143319 interferon stimulated exonuclease gene 20 like 2 ISG20L2 interferon stimulated exonuclease gene 20kDa-like 2 FLJ12671 Yes No Ensembl:ENSG00000143319, GeneCard:ISG20L2, HGNC:HGNC:25745, HumanCyc Gene:HS07024, ModBase:Q9H9L3, NCBI Gene:81875, OMIM:611930, RefSeq DNA:NT_004487, RefSeq Protein:NP_112242, RefSeq RNA:NM_030980, UniProtKB:Q9H9L3 No chr1 156691687 156698577 156721891 156728599 +PA29932 3670 HGNC:6132 ENSG00000016082 ISL LIM homeobox 1 ISL1 ISLET1, Isl-1 Yes No Comparative Toxicogenomics Database:3670, Ensembl:ENSG00000016082, GenAtlas:ISL1, GeneCard:ISL1, HGNC:HGNC:6132, HumanCyc Gene:HS00374, ModBase:P61371, NCBI Gene:3670, OMIM:600366, RefSeq DNA:NG_023040, RefSeq DNA:NT_006713, RefSeq Protein:NP_002193, RefSeq RNA:NM_002202, UCSC Genome Browser:NM_002202, UniProtKB:P61371 No chr5 50678958 50690564 51383124 51394730 +PA38566 64843 HGNC:18524 ENSG00000159556 ISL LIM homeobox 2 ISL2 FLJ10160 Yes No Ensembl:ENSG00000159556, GenAtlas:ISL2, GeneCard:ISL2, HGNC:HGNC:18524, HumanCyc Gene:HS08410, ModBase:Q96A47, NCBI Gene:64843, OMIM:609481, RefSeq DNA:NT_010194, RefSeq Protein:NP_665804, RefSeq RNA:NM_145805, UCSC Genome Browser:NM_145805, UniProtKB:Q96A47 No chr15 76629065 76634817 76336724 76342476 +PA29933 3671 HGNC:6133 ENSG00000129009 immunoglobulin superfamily containing leucine rich repeat ISLR immunoglobulin superfamily containing leucine-rich repeat HsT17563 Yes No Comparative Toxicogenomics Database:3671, Ensembl:ENSG00000129009, GenAtlas:ISLR, GeneCard:ISLR, HGNC:HGNC:6133, HumanCyc Gene:HS05238, ModBase:O14498, NCBI Gene:3671, OMIM:602059, RefSeq DNA:NT_010194, RefSeq Protein:NP_005536, RefSeq Protein:NP_958934, RefSeq RNA:NM_005545, RefSeq RNA:NM_201526, UCSC Genome Browser:NM_005545, UniProtKB:O14498 No chr15 74466087 74469212 74173746 74176871 +PA143485505 57611 HGNC:29286 ENSG00000167178 immunoglobulin superfamily containing leucine rich repeat 2 ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2 KIAA1465 Yes No Ensembl:ENSG00000167178, GeneCard:ISLR2, HGNC:HGNC:29286, ModBase:Q6UXK2, NCBI Gene:57611, RefSeq DNA:NT_010194, RefSeq Protein:NP_001123608, RefSeq Protein:NP_001123609, RefSeq Protein:NP_001123610, RefSeq Protein:NP_065902, RefSeq RNA:NM_001130136, RefSeq RNA:NM_001130137, RefSeq RNA:NM_001130138, RefSeq RNA:NM_020851, UniProtKB:Q6UXK2 No chr15 74420544 74429143 74128203 74141826 +PA164721080 140862 HGNC:16213 ENSG00000101230 isthmin 1 ISM1 """isthmin 1 homolog (zebrafish)"", ""isthmin 1, angiogenesis inhibitor""" C20orf82, bA149I18.1 Yes No Ensembl:ENSG00000101230, GeneCard:ISM1, HGNC:HGNC:16213, HumanCyc Gene:HS02224, ModBase:B1AKI9, NCBI Gene:140862, RefSeq DNA:NT_011387, RefSeq Protein:NP_543016, RefSeq RNA:NM_080826, UniProtKB:B1AKI9 No chr20 13202418 13281297 13221771 13326734 +PA164721097 145501 HGNC:23176 ENSG00000100593 isthmin 2 ISM2 isthmin 2 homolog (zebrafish), thrombospondin and AMOP containing isthmin-like 1 FLJ32147, TAIL1, THSD3 Yes No Ensembl:ENSG00000100593, GeneCard:ISM2, HGNC:HGNC:23176, ModBase:Q8N501, NCBI Gene:145501, OMIM:612684, RefSeq DNA:NT_026437, RefSeq Protein:NP_872315, RefSeq Protein:NP_954993, RefSeq RNA:NM_182509, RefSeq RNA:NM_199296, UniProtKB:Q6H9L7 No chr14 77940737 77965210 77474394 77498867 +PA134973470 51015 HGNC:24254 ENSG00000066583 isochorismatase domain containing 1 ISOC1 CGI-111 Yes No Comparative Toxicogenomics Database:51015, Ensembl:ENSG00000066583, GeneCard:ISOC1, HGNC:HGNC:24254, HumanCyc Gene:HS00883, ModBase:Q96CN7, NCBI Gene:51015, RefSeq DNA:NT_034772, RefSeq Protein:NP_057132, RefSeq RNA:NM_016048, UniProtKB:Q96CN7 No chr5 128430442 128449721 129094749 129114028 +PA134981722 79763 HGNC:26278 ENSG00000063241 isochorismatase domain containing 2 ISOC2 FLJ23469 Yes No Ensembl:ENSG00000063241, GeneCard:ISOC2, HGNC:HGNC:26278, HumanCyc Gene:HS00779, ModBase:Q96AB3, NCBI Gene:79763, OMIM:612928, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129673, RefSeq Protein:NP_001129674, RefSeq Protein:NP_078986, RefSeq RNA:NM_001136201, RefSeq RNA:NM_001136202, RefSeq RNA:NM_024710, UniProtKB:Q96AB3 No chr19 55964345 55973070 55452978 55461682 +PA142671633 9798 HGNC:28977 ENSG00000182149 IST1 factor associated with ESCRT-III IST1 """IST1, ESCRT-III associated factor"", ""IST1, endosomal sorting complex required for transport-III component"", ""increased sodium tolerance 1 homolog (yeast)""" CHMP8, KIAA0174 Yes No Ensembl:ENSG00000182149, GeneCard:KIAA0174, HGNC:HGNC:28977, HumanCyc Gene:HS06760, NCBI Gene:9798, RefSeq DNA:NT_010498, RefSeq Protein:NP_055576, RefSeq RNA:NM_014761, UniProtKB:P53990 No chr16 71928311 71964542 71894408 71930639 +PA147357909 91464 HGNC:28084 ENSG00000175329 intestine specific homeobox ISX intestine-specific homeobox RAXLX Yes No Ensembl:ENSG00000175329, GeneCard:ISX, HGNC:HGNC:28084, ModBase:Q2M1V0, NCBI Gene:91464, OMIM:612019, RefSeq DNA:NT_011520, RefSeq Protein:NP_001008494, RefSeq RNA:NM_001008494, UniProtKB:Q2M1V0 No chr22 35462130 35483380 35066136 35087387 +PA162392343 57461 HGNC:29201 ENSG00000240682 ISY1 splicing factor homolog ISY1 ISY1 splicing factor homolog (S. cerevisiae), functional spliceosome-associated protein 33 KIAA1160, fSAP33 Yes No Ensembl:ENSG00000240682, GeneCard:ISY1, HGNC:HGNC:29201, HumanCyc Gene:HS16131, ModBase:Q9ULR0, NCBI Gene:57461, OMIM:612764, RefSeq DNA:NT_005612, RefSeq Protein:NP_001186398, RefSeq Protein:NP_065752, RefSeq RNA:NM_001199469, RefSeq RNA:NM_020701, UniProtKB:Q9ULR0 No chr3 128846259 128880409 129127416 129161230 +PA164721116 51477 HGNC:29821 ENSG00000105655 inositol-3-phosphate synthase 1 ISYNA1 myo-inositol 1-phosphate synthase INOS, IPS, Ino1 Yes No Ensembl:ENSG00000105655, GeneCard:ISYNA1, HGNC:HGNC:29821, HumanCyc Gene:HS02782, ModBase:Q9NPH2, NCBI Gene:51477, OMIM:611670, RefSeq DNA:NT_011295, RefSeq Protein:NP_001164409, RefSeq Protein:NP_001164410, RefSeq Protein:NP_057452, RefSeq RNA:NM_001170938, RefSeq RNA:NM_001170939, RefSeq RNA:NM_016368, UniProtKB:B3KRT1, UniProtKB:B3KSG0, UniProtKB:Q9NPH2 No chr19 18545198 18549111 18434388 18438301 +PA29934 83737 HGNC:13890 ENSG00000078747 itchy E3 ubiquitin protein ligase ITCH AIP4 Yes No Comparative Toxicogenomics Database:83737, Ensembl:ENSG00000078747, GenAtlas:ITCH, GeneCard:ITCH, HGNC:HGNC:13890, HumanCyc Gene:HS01299, ModBase:Q96J02, NCBI Gene:83737, OMIM:606409, OMIM:613385, RefSeq DNA:NG_023206, RefSeq DNA:NT_011362, RefSeq Protein:NP_113671, RefSeq RNA:NM_031483, UCSC Genome Browser:NM_031483, UniProtKB:A9Z1X3, UniProtKB:Q96J02 No chr20 32951041 33099198 34363235 34511773 +PA143485506 81533 HGNC:30697 ENSG00000129636 integrin alpha FG-GAP repeat containing 1 ITFG1 LINKIN, T cell immunomodulatory protein CDA08, LNKN-1, TIP Yes No Ensembl:ENSG00000129636, GeneCard:ITFG1, HGNC:HGNC:30697, HumanCyc Gene:HS13305, ModBase:Q8TB96, NCBI Gene:81533, OMIM:611803, RefSeq DNA:NT_010498, RefSeq Protein:NP_110417, RefSeq RNA:NM_030790, UniProtKB:Q8TB96 No chr16 47188302 47495018 47154387 47461274 +PA143485507 55846 HGNC:30879 ENSG00000111203 integrin alpha FG-GAP repeat containing 2 ITFG2 FGGAP1, KICS3, MDS028 Yes No Ensembl:ENSG00000111203, GeneCard:ITFG2, HGNC:HGNC:30879, HumanCyc Gene:HS03378, ModBase:Q969R8, NCBI Gene:55846, RefSeq DNA:NT_009759, RefSeq Protein:NP_060933, RefSeq RNA:NM_018463, UniProtKB:Q969R8 No chr12 2921716 2934237 2812621 2832217 +PA29935 3672 HGNC:6134 ENSG00000213949 integrin subunit alpha 1 ITGA1 """integrin, alpha 1"", ""very late antigen-1""" CD49a, VLA1 Yes Yes Comparative Toxicogenomics Database:3672, Ensembl:ENSG00000213949, GenAtlas:ITGA1, GeneCard:ITGA1, HGNC:HGNC:6134, ModBase:P56199, NCBI Gene:3672, OMIM:192968, RefSeq DNA:NG_002793, RefSeq DNA:NT_006713, RefSeq Protein:NP_852478, RefSeq RNA:NM_181501, UCSC Genome Browser:NM_181501, UniProtKB:P56199 No chr5 52084136 52249485 52788302 52953655 +PA29936 8515 HGNC:6135 ENSG00000143127 integrin subunit alpha 10 ITGA10 integrin, alpha 10 Yes No Ensembl:ENSG00000143127, GenAtlas:ITGA10, GeneCard:ITGA10, HGNC:HGNC:6135, HumanCyc Gene:HS06988, ModBase:O75578, NCBI Gene:8515, OMIM:604042, RefSeq DNA:NT_167185, RefSeq Protein:NP_003628, RefSeq RNA:NM_003637, UCSC Genome Browser:NM_003637, UniProtKB:O75578 No chr1 145524709 145543868 145891208 145910189 +PA29937 22801 HGNC:6136 ENSG00000137809 integrin subunit alpha 11 ITGA11 integrin, alpha 11 HsT18964 Yes No Comparative Toxicogenomics Database:22801, Ensembl:ENSG00000137809, GenAtlas:ITGA11, GeneCard:ITGA11, HGNC:HGNC:6136, HumanCyc Gene:HS06401, ModBase:Q9UKX5, NCBI Gene:22801, OMIM:604789, RefSeq DNA:NT_010194, RefSeq Protein:NP_001004439, RefSeq RNA:NM_001004439, UCSC Genome Browser:NM_012211, UniProtKB:B3KTN6, UniProtKB:Q9UKX5 No chr15 68591128 68724502 68297433 68432312 +PA204 3673 HGNC:6137 ENSG00000164171 integrin subunit alpha 2 ITGA2 """CD49B"", ""alpha 2 integrin"", ""alpha 2 subunit of VLA-2 receptor"", ""glycoprotein Ia"", ""human platelet alloantigen 5"", ""integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)"", ""very late activation receptor subunit alpha-2""" CD49b, GPIa, HPA-5, VLAA2 Yes Yes Comparative Toxicogenomics Database:3673, Ensembl:ENSG00000164171, GenAtlas:ITGA2, GeneCard:ITGA2, HGNC:HGNC:6137, HumanCyc Gene:HS09032, ModBase:P17301, NCBI Gene:3673, OMIM:192974, RefSeq DNA:NG_008330, RefSeq DNA:NT_006713, RefSeq Protein:NP_002194, RefSeq RNA:NM_002203, UCSC Genome Browser:NM_002203, UniProtKB:P17301 No chr5 52285156 52390609 52989326 53094779 +PA29938 3674 HGNC:6138 ENSG00000005961 integrin subunit alpha 2b ITGA2B """Integrin alpha-IIb"", ""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)"", ""platelet glycoprotein IIb of IIb/IIIa complex"", ""protein phosphatase 1, regulatory subunit 93""" CD41, CD41B, GP2B, GPIIb, PPP1R93 Yes Yes Comparative Toxicogenomics Database:3674, Ensembl:ENSG00000005961, GenAtlas:ITGA2B, GeneCard:ITGA2B, HGNC:HGNC:6138, HumanCyc Gene:HS00155, ModBase:P08514, NCBI Gene:3674, OMIM:273800, OMIM:607759, RefSeq DNA:NG_008331, RefSeq DNA:NT_010783, RefSeq Protein:NP_000410, RefSeq RNA:NM_000419, UCSC Genome Browser:NM_000419, UniProtKB:P08514 No chr17 42449550 42466873 44372181 44389601 +PA29939 3675 HGNC:6139 ENSG00000005884 integrin subunit alpha 3 ITGA3 """alpha 3 subunit of VLA-3 receptor"", ""antigen CD49C"", ""galactoprotein b3"", ""integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)"", ""very late activation receptor subunit alpha-3""" CD49c, GAP-B3, MSK18, VCA-2, VLA3a Yes No Comparative Toxicogenomics Database:3675, Ensembl:ENSG00000005884, GenAtlas:ITGA3, GeneCard:ITGA3, HGNC:HGNC:6139, HumanCyc Gene:HS00152, ModBase:P26006, NCBI Gene:3675, OMIM:605025, RefSeq DNA:NT_010783, RefSeq Protein:NP_002195, RefSeq Protein:NP_005492, RefSeq RNA:NM_002204, RefSeq RNA:NM_005501, UCSC Genome Browser:NM_002204, UniProtKB:P26006 No chr17 48133340 48167849 50055968 50090485 +PA29940 3676 HGNC:6140 ENSG00000115232 integrin subunit alpha 4 ITGA4 """CD49D"", ""alpha 4 subunit of VLA-4 receptor"", ""antigen CD49D"", ""integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)""" CD49d Yes No Comparative Toxicogenomics Database:3676, Ensembl:ENSG00000115232, GenAtlas:ITGA4, GeneCard:ITGA4, HGNC:HGNC:6140, HumanCyc Gene:HS03851, NCBI Gene:3676, OMIM:192975, RefSeq DNA:NT_005403, RefSeq Protein:NP_000876, RefSeq RNA:NM_000885, UCSC Genome Browser:NM_000885, UniProtKB:P13612 No chr2 182321619 182402474 181456892 181538928 +PA29941 3678 HGNC:6141 ENSG00000161638 integrin subunit alpha 5 ITGA5 """fibronectin receptor, alpha polypeptide"", ""integrin, alpha 5 (fibronectin receptor, alpha polypeptide)""" CD49e, FNRA Yes No Comparative Toxicogenomics Database:3678, Ensembl:ENSG00000161638, GenAtlas:ITGA5, GeneCard:ITGA5, HGNC:HGNC:6141, HumanCyc Gene:HS08601, ModBase:P08648, NCBI Gene:3678, OMIM:135620, RefSeq DNA:NT_029419, RefSeq Protein:NP_002196, RefSeq RNA:NM_002205, UCSC Genome Browser:NM_002205, UniProtKB:P08648 No chr12 54789045 54813050 54395261 54419266 +PA29942 3655 HGNC:6142 ENSG00000091409 integrin subunit alpha 6 ITGA6 """integrin, alpha 6"", ""very late activation protein 6""" CD49f, ITGA6A, ITGA6B, VLA-6 Yes No Comparative Toxicogenomics Database:3655, Ensembl:ENSG00000091409, GenAtlas:ITGA6, GeneCard:ITGA6, HGNC:HGNC:6142, HumanCyc Gene:HS01731, NCBI Gene:3655, OMIM:147556, OMIM:226730, RefSeq DNA:NG_008853, RefSeq DNA:NT_005403, RefSeq Protein:NP_000201, RefSeq Protein:NP_001073286, RefSeq RNA:NM_000210, RefSeq RNA:NM_001079818, UCSC Genome Browser:NM_000210, UniProtKB:P23229 No chr2 173291954 173371181 172427354 172506455 +PA29943 3679 HGNC:6143 ENSG00000135424 integrin subunit alpha 7 ITGA7 integrin, alpha 7 Yes No Comparative Toxicogenomics Database:3679, Ensembl:ENSG00000135424, GenAtlas:ITGA7, GeneCard:ITGA7, HGNC:HGNC:6143, HumanCyc Gene:HS06002, ModBase:Q13683, NCBI Gene:3679, OMIM:600536, OMIM:613204, RefSeq DNA:NG_012343, RefSeq DNA:NT_029419, RefSeq Protein:NP_001138468, RefSeq Protein:NP_001138469, RefSeq Protein:NP_002197, RefSeq RNA:NM_001144996, RefSeq RNA:NM_001144997, RefSeq RNA:NM_002206, UCSC Genome Browser:NM_002206, UniProtKB:B4E3U0, UniProtKB:Q13683, UniProtKB:Q4LE35 No chr12 56078352 56109821 55684568 55716037 +PA29944 8516 HGNC:6144 ENSG00000077943 integrin subunit alpha 8 ITGA8 integrin, alpha 8 Yes No Comparative Toxicogenomics Database:8516, Ensembl:ENSG00000077943, GenAtlas:ITGA8, GeneCard:ITGA8, HGNC:HGNC:6144, HumanCyc Gene:HS01262, ModBase:P53708, NCBI Gene:8516, OMIM:604063, RefSeq DNA:NT_008705, RefSeq Protein:NP_003629, RefSeq RNA:NM_003638, UniProtKB:P53708 No chr10 15557711 15762328 15513949 15720335 +PA29945 3680 HGNC:6145 ENSG00000144668 integrin subunit alpha 9 ITGA9 """integrin, alpha 4-like"", ""integrin, alpha 9""" ALPHA-RLC, ITGA4L, RLC Yes Yes Comparative Toxicogenomics Database:3680, Ensembl:ENSG00000144668, GenAtlas:ITGA9, GeneCard:ITGA9, HGNC:HGNC:6145, HumanCyc Gene:HS07190, ModBase:Q13797, NCBI Gene:3680, OMIM:603963, RefSeq DNA:NG_016166, RefSeq DNA:NT_022517, RefSeq Protein:NP_002198, RefSeq RNA:NM_002207, UCSC Genome Browser:NM_002207, UniProtKB:Q13797, UniProtKB:Q8N6H6 No chr3 37493813 37861281 37452322 37819790 +PA29946 3681 HGNC:6146 ENSG00000156886 integrin subunit alpha D ITGAD integrin, alpha D ADB2, CD11d Yes No Ensembl:ENSG00000156886, GenAtlas:ITGAD, GeneCard:ITGAD, HGNC:HGNC:6146, HumanCyc Gene:HS08158, ModBase:Q13349, NCBI Gene:3681, OMIM:602453, RefSeq DNA:NT_010393, RefSeq Protein:NP_005344, RefSeq RNA:NM_005353, UCSC Genome Browser:NM_005353, UniProtKB:Q13349, UniProtKB:Q59H14 No chr16 31404633 31437826 31393224 31426513 +PA29947 3682 HGNC:6147 ENSG00000083457 integrin subunit alpha E ITGAE """antigen CD103"", ""human mucosal lymphocyte antigen 1, alpha polypeptide"", ""integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)""" CD103, HUMINAE Yes No Comparative Toxicogenomics Database:3682, Ensembl:ENSG00000083457, GenAtlas:ITGAE, GeneCard:ITGAE, HGNC:HGNC:6147, HumanCyc Gene:HS01442, ModBase:P38570, NCBI Gene:3682, OMIM:604682, RefSeq DNA:NT_010718, RefSeq Protein:NP_002199, RefSeq RNA:NM_002208, UCSC Genome Browser:NM_002208, UniProtKB:P38570 No chr17 3617919 3704537 3714625 3803766 +PA29948 3683 HGNC:6148 ENSG00000005844 integrin subunit alpha L ITGAL """antigen CD11A (p180)"", ""integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)"", ""lymphocyte function-associated antigen 1, alpha polypeptide""" CD11A, LFA-1, LFA1A Yes Yes Comparative Toxicogenomics Database:3683, Ensembl:ENSG00000005844, GenAtlas:ITGAL, GeneCard:ITGAL, HGNC:HGNC:6148, HumanCyc Gene:HS00150, ModBase:P20701, NCBI Gene:3683, OMIM:153370, RefSeq DNA:NT_010393, RefSeq Protein:NP_001107852, RefSeq Protein:NP_002200, RefSeq RNA:NM_001114380, RefSeq RNA:NM_002209, UCSC Genome Browser:NM_002209, UniProtKB:B2RAL6, UniProtKB:P20701, UniProtKB:Q96HB1 No chr16 30483983 30534506 30472662 30523185 +PA29949 3684 HGNC:6149 ENSG00000169896 integrin subunit alpha M ITGAM """CD11B"", ""complement component 3 receptor 3 subunit"", ""integrin, alpha M (complement component 3 receptor 3 subunit)"", ""macrophage-1 antigen alpha subunit""" CD11b, CR3A, MAC-1 Yes No Comparative Toxicogenomics Database:3684, Ensembl:ENSG00000169896, GenAtlas:ITGAM, GeneCard:ITGAM, HGNC:HGNC:6149, HumanCyc Gene:HS10029, ModBase:P11215, NCBI Gene:3684, OMIM:120980, OMIM:609939, RefSeq DNA:NG_011719, RefSeq DNA:NT_010393, RefSeq Protein:NP_000623, RefSeq Protein:NP_001139280, RefSeq RNA:NM_000632, RefSeq RNA:NM_001145808, UCSC Genome Browser:NM_000632, UniProtKB:P11215 No chr16 31271288 31344213 31259967 31332892 +PA37336 3685 HGNC:6150 ENSG00000138448 integrin subunit alpha V ITGAV integrin, alpha V CD51, MSK8, VNRA, VTNR Yes No Comparative Toxicogenomics Database:3685, Ensembl:ENSG00000138448, GenAtlas:ITGAV, GenAtlas:VTNR, GeneCard:ITGAV, GeneCard:VTNR, HGNC:HGNC:6150, HumanCyc Gene:HS06507, ModBase:P06756, NCBI Gene:3685, OMIM:193210, RefSeq DNA:NT_005403, RefSeq Protein:NP_001138471, RefSeq Protein:NP_001138472, RefSeq Protein:NP_002201, RefSeq RNA:NM_001144999, RefSeq RNA:NM_001145000, RefSeq RNA:NM_002210, UCSC Genome Browser:NM_002210, UniProtKB:B7Z883, UniProtKB:B7ZLX0, UniProtKB:P06756 No chr2 187454058 187545629 186590063 186680902 +PA29952 3687 HGNC:6152 ENSG00000140678 integrin subunit alpha X ITGAX """CD11C"", ""complement component 3 receptor 4 subunit"", ""integrin, alpha X (complement component 3 receptor 4 subunit)""" CD11c Yes No Comparative Toxicogenomics Database:3687, Ensembl:ENSG00000140678, GenAtlas:ITGAX, GeneCard:ITGAX, HGNC:HGNC:6152, HumanCyc Gene:HS06749, ModBase:P20702, NCBI Gene:3687, OMIM:151510, OMIM:152700, RefSeq DNA:NG_011451, RefSeq DNA:NT_010393, RefSeq Protein:NP_000878, RefSeq RNA:NM_000887, UCSC Genome Browser:NM_000887, UniProtKB:P20702, UniProtKB:Q8TES5 No chr16 31366488 31394320 31355134 31382997 +PA29953 3688 HGNC:6153 ENSG00000150093 integrin subunit beta 1 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) CD29, FNRB, GPIIA, MDF2, MSK12 Yes Yes Comparative Toxicogenomics Database:3688, Ensembl:ENSG00000150093, GenAtlas:ITGB1, GeneCard:ITGB1, HGNC:HGNC:6153, HumanCyc Gene:HS07658, ModBase:Q14622, NCBI Gene:3688, OMIM:135630, RefSeq DNA:NT_008705, RefSeq Protein:NP_002202, RefSeq Protein:NP_389647, RefSeq Protein:NP_391987, RefSeq Protein:NP_391988, RefSeq Protein:NP_391989, RefSeq Protein:NP_596867, RefSeq RNA:NM_002211, RefSeq RNA:NM_033666, RefSeq RNA:NM_033667, RefSeq RNA:NM_033668, RefSeq RNA:NM_033669, RefSeq RNA:NM_133376, UCSC Genome Browser:NM_002211, UniProtKB:P05556 No chr10 33189246 33247293 32900318 32958365 +PA134913590 9270 HGNC:23927 ENSG00000119185 integrin subunit beta 1 binding protein 1 ITGB1BP1 bodenin, integrin beta 1 binding protein 1, integrin cytoplasmic domain-associated protein 1, integrin cytoplasmic domain-associated protein 1-alpha, integrin cytoplasmic domain-associated protein 1-beta ICAP-1A, ICAP-1B, ICAP-1alpha, ICAP1, ICAP1A, ICAP1B Yes No Comparative Toxicogenomics Database:9270, Ensembl:ENSG00000119185, GeneCard:ITGB1BP1, HGNC:HGNC:23927, HumanCyc Gene:HS04279, ModBase:O14713, NCBI Gene:9270, OMIM:607153, RefSeq DNA:NT_005334, RefSeq Protein:NP_004754, RefSeq Protein:NP_071729, RefSeq RNA:NM_004763, RefSeq RNA:NM_022334, UniProtKB:O14713, UniProtKB:Q53RS0 No chr2 9545810 9563698 9405681 9423569 +PA29954 26548 HGNC:6154 ENSG00000147166 integrin subunit beta 1 binding protein 2 ITGB1BP2 integrin beta 1 binding protein (melusin) 2, melusin CHORDC3 Yes No Ensembl:ENSG00000147166, GenAtlas:ITGB1BP2, GeneCard:ITGB1BP2, HGNC:HGNC:6154, HumanCyc Gene:HS07405, ModBase:Q9UKP3, NCBI Gene:26548, OMIM:300332, RefSeq DNA:NT_011669, RefSeq Protein:NP_036410, RefSeq RNA:NM_012278, UCSC Genome Browser:NM_012278, UniProtKB:Q9UKP3 No chrX 70521581 70525221 71301275 71305371 +PA28198 100422691 HGNC:3781 ENSG00000269378 integrin beta 1 pseudogene 1 ITGB1P1 ITGB1L Yes No Ensembl:ENSG00000269378, GenAtlas:FNRBL, GeneCard:FNRBL, HGNC:HGNC:3781, NCBI Gene:100422691 No chr19 14732331 14734100 14622221 14623288 +PA29955 3689 HGNC:6155 ENSG00000160255 integrin subunit beta 2 ITGB2 """complement component 3 receptor 3 and 4 subunit"", ""integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)""" CD18, LFA-1, MAC-1, MFI7 Yes No Comparative Toxicogenomics Database:3689, Ensembl:ENSG00000160255, GenAtlas:ITGB2, GeneCard:ITGB2, HGNC:HGNC:6155, HumanCyc Gene:HS08477, ModBase:P05107, NCBI Gene:3689, OMIM:116920, OMIM:600065, RefSeq DNA:NG_007270, RefSeq DNA:NT_011515, RefSeq Protein:NP_000202, RefSeq Protein:NP_001120963, RefSeq RNA:NM_000211, RefSeq RNA:NM_001127491, UCSC Genome Browser:NM_000211, UniProtKB:P05107 No chr21 46305864 46348753 44885949 44928873 +PA205 3690 HGNC:6156 ENSG00000259207 integrin subunit beta 3 ITGB3 """antigen CD61"", ""integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)"", ""platelet glycoprotein IIIa""" CD61, GP3A, GPIIIa Yes Yes Comparative Toxicogenomics Database:3690, Ensembl:ENSG00000259207, GenAtlas:ITGB3, GeneCard:ITGB3, HGNC:HGNC:6156, HumanCyc Gene:HS00694, ModBase:P05106, NCBI Gene:3690, OMIM:173470, RefSeq DNA:NG_008332, RefSeq DNA:NT_010783, RefSeq Protein:NP_000203, RefSeq RNA:NM_000212, UCSC Genome Browser:NM_000212, UniProtKB:P05106 No chr17 45331208 45390077 47253842 47312711 +PA29956 23421 HGNC:6157 ENSG00000142856 integrin subunit beta 3 binding protein ITGB3BP beta3-endonexin, centromere protein R, integrin beta 3 binding protein (beta3-endonexin) CENPR, HSU37139, NRIF3, TAP20 Yes No Comparative Toxicogenomics Database:23421, Ensembl:ENSG00000142856, GenAtlas:ITGB3BP, GeneCard:ITGB3BP, HGNC:HGNC:6157, HumanCyc Gene:HS06965, ModBase:Q9UKB6, NCBI Gene:23421, OMIM:605494, RefSeq DNA:NT_032977, RefSeq Protein:NP_001193668, RefSeq Protein:NP_055103, RefSeq RNA:NM_001206739, RefSeq RNA:NM_014288, UCSC Genome Browser:NM_014288, UniProtKB:Q13352 No chr1 63906441 63988944 63440770 63523517 +PA29957 3691 HGNC:6158 ENSG00000132470 integrin subunit beta 4 ITGB4 integrin, beta 4 CD104 Yes No Comparative Toxicogenomics Database:3691, Ensembl:ENSG00000132470, GenAtlas:ITGB4, GeneCard:ITGB4, HGNC:HGNC:6158, HumanCyc Gene:HS05640, ModBase:P16144, NCBI Gene:3691, OMIM:131800, OMIM:147557, OMIM:226650, OMIM:226730, RefSeq DNA:NG_007372, RefSeq DNA:NT_010783, RefSeq Protein:NP_000204, RefSeq Protein:NP_001005619, RefSeq Protein:NP_001005731, RefSeq RNA:NM_000213, RefSeq RNA:NM_001005619, RefSeq RNA:NM_001005731, UCSC Genome Browser:NM_000213, UniProtKB:A0AVL6, UniProtKB:P16144 No chr17 73717516 73753899 75721328 75757819 +PA29959 3693 HGNC:6160 ENSG00000082781 integrin subunit beta 5 ITGB5 integrin, beta 5 Yes No Comparative Toxicogenomics Database:3693, Ensembl:ENSG00000082781, GenAtlas:ITGB5, GeneCard:ITGB5, HGNC:HGNC:6160, HumanCyc Gene:HS01430, ModBase:P18084, NCBI Gene:3693, OMIM:147561, RefSeq DNA:NT_005612, RefSeq Protein:NP_002204, RefSeq RNA:NM_002213, UCSC Genome Browser:NM_002213, UniProtKB:P18084 No chr3 124480795 124606500 124761948 124901411 +PA29960 3694 HGNC:6161 ENSG00000115221 integrin subunit beta 6 ITGB6 integrin, beta 6 Yes No Comparative Toxicogenomics Database:3694, Ensembl:ENSG00000115221, GenAtlas:ITGB6, GeneCard:ITGB6, HGNC:HGNC:6161, HumanCyc Gene:HS03850, ModBase:P18564, NCBI Gene:3694, OMIM:147558, RefSeq DNA:NT_005403, RefSeq Protein:NP_000879, RefSeq RNA:NM_000888, UCSC Genome Browser:NM_000888, UniProtKB:P18564 No chr2 160956182 161110349 160099666 160200313 +PA29961 3695 HGNC:6162 ENSG00000139626 integrin subunit beta 7 ITGB7 integrin, beta 7 Yes No Comparative Toxicogenomics Database:3695, Ensembl:ENSG00000139626, GenAtlas:ITGB7, GeneCard:ITGB7, HGNC:HGNC:6162, HumanCyc Gene:HS06640, ModBase:P26010, NCBI Gene:3695, OMIM:147559, RefSeq DNA:NT_029419, RefSeq Protein:NP_000880, RefSeq RNA:NM_000889, UCSC Genome Browser:NM_000889, UniProtKB:P26010 No chr12 53585102 53601065 53191318 53207376 +PA29962 3696 HGNC:6163 ENSG00000105855 integrin subunit beta 8 ITGB8 integrin, beta 8 Yes No Ensembl:ENSG00000105855, GenAtlas:ITGB8, GeneCard:ITGB8, HGNC:HGNC:6163, HumanCyc Gene:HS02821, ModBase:P26012, NCBI Gene:3696, OMIM:604160, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002205, RefSeq RNA:NM_002214, UCSC Genome Browser:NM_002214, UniProtKB:P26012, UniProtKB:Q9BUG9 No chr7 20370345 20455382 20329819 20415759 +PA29963 9358 HGNC:6164 ENSG00000198542 integrin subunit beta like 1 ITGBL1 """ITGBL1, integrin beta-like 1"", ""integrin, beta-like 1 (with EGF-like repeat domains)"", ""ten integrin EGF-like repeat domains protein""" OSCP, TIED Yes Yes Comparative Toxicogenomics Database:9358, Ensembl:ENSG00000198542, GenAtlas:ITGBL1, GeneCard:ITGBL1, HGNC:HGNC:6164, ModBase:O95965, NCBI Gene:9358, OMIM:604234, RefSeq DNA:NT_009952, RefSeq Protein:NP_004782, RefSeq RNA:NM_004791, UCSC Genome Browser:NM_004791, UniProtKB:O95965 No chr13 102104944 102373207 101452593 101720857 +PA29964 3697 HGNC:6166 ENSG00000055957 inter-alpha-trypsin inhibitor heavy chain 1 ITIH1 H1P, IATIH, ITIH Yes No Comparative Toxicogenomics Database:3697, Ensembl:ENSG00000055957, GenAtlas:ITIH1, GeneCard:ITIH1, HGNC:HGNC:6166, HumanCyc Gene:HS00690, ModBase:P19827, NCBI Gene:3697, OMIM:147270, RefSeq DNA:NG_016005, RefSeq DNA:NT_022517, RefSeq Protein:NP_001159906, RefSeq Protein:NP_001159907, RefSeq Protein:NP_001159908, RefSeq Protein:NP_002206, RefSeq RNA:NM_001166434, RefSeq RNA:NM_001166435, RefSeq RNA:NM_001166436, RefSeq RNA:NM_002215, UCSC Genome Browser:NM_002215, UniProtKB:B7Z558, UniProtKB:B7Z8C0, UniProtKB:P19827 No chr3 52811602 52826084 52777586 52792068 +PA29965 3698 HGNC:6167 ENSG00000151655 inter-alpha-trypsin inhibitor heavy chain 2 ITIH2 H2P Yes No Comparative Toxicogenomics Database:3698, Ensembl:ENSG00000151655, GenAtlas:ITIH2, GeneCard:ITIH2, HGNC:HGNC:6167, HumanCyc Gene:HS07758, ModBase:P19823, NCBI Gene:3698, OMIM:146640, RefSeq DNA:NT_008705, RefSeq Protein:NP_002207, RefSeq RNA:NM_002216, UCSC Genome Browser:NM_002216, UniProtKB:P19823 No chr10 7745236 7791483 7703273 7749520 +PA29966 3699 HGNC:6168 ENSG00000162267 inter-alpha-trypsin inhibitor heavy chain 3 ITIH3 """inter-alpha-trypsin inhibitor heavy chain H3"", ""pre-alpha (globulin) inhibitor, H3 polypeptide""" H3P Yes Yes Comparative Toxicogenomics Database:3699, Ensembl:ENSG00000162267, GenAtlas:ITIH3, GeneCard:ITIH3, HGNC:HGNC:6168, HumanCyc Gene:HS08655, ModBase:Q06033, NCBI Gene:3699, OMIM:146650, RefSeq DNA:NT_022517, RefSeq Protein:NP_002208, RefSeq RNA:NM_002217, UCSC Genome Browser:NM_002217, UniProtKB:Q06033 No chr3 52828784 52843025 52794768 52809009 +PA29967 3700 HGNC:6169 ENSG00000055955 inter-alpha-trypsin inhibitor heavy chain 4 ITIH4 """inter-alpha-trypsin inhibitor heavy chain family member 4"", ""inter-alpha-trypsin inhibitor heavy chain family, member 4"", ""plasma Kallikrein-sensitive glycoprotein""" H4P, IHRP, ITIHL1 Yes No Comparative Toxicogenomics Database:3700, Ensembl:ENSG00000055955, GenAtlas:ITIH4, GeneCard:ITIH4, HGNC:HGNC:6169, HumanCyc Gene:HS00689, ModBase:Q14624, NCBI Gene:3700, OMIM:143890, OMIM:600564, RefSeq DNA:NG_016006, RefSeq DNA:NT_022517, RefSeq Protein:NP_001159921, RefSeq Protein:NP_002209, RefSeq RNA:NM_001166449, RefSeq RNA:NM_002218, UCSC Genome Browser:NM_002218, UniProtKB:B2RMS9, UniProtKB:B7Z545, UniProtKB:B7ZKJ8, UniProtKB:Q14624 No chr3 52847006 52864717 52812990 52830701 +PA134899668 80760 HGNC:21449 ENSG00000123243 inter-alpha-trypsin inhibitor heavy chain 5 ITIH5 """inter-alpha-trypsin inhibitor heavy chain family member 5"", ""inter-alpha-trypsin inhibitor heavy chain family, member 5""" MGC10848 Yes No Comparative Toxicogenomics Database:80760, Ensembl:ENSG00000123243, GeneCard:ITIH5, HGNC:HGNC:21449, HumanCyc Gene:HS13084, NCBI Gene:80760, OMIM:609783, RefSeq DNA:NT_008705, RefSeq Protein:NP_001001851, RefSeq Protein:NP_085046, RefSeq Protein:NP_116206, RefSeq RNA:NM_001001851, RefSeq RNA:NM_030569, RefSeq RNA:NM_032817, UniProtKB:Q86UX2 No chr10 7601232 7708961 7559270 7666998 +PA134930661 347365 HGNC:28907 ENSG00000102313 inter-alpha-trypsin inhibitor heavy chain family member 6 ITIH6 inter-alpha-trypsin inhibitor heavy chain family, member 6 ITIH5L, UNQ6369 Yes No Ensembl:ENSG00000102313, GeneCard:ITIH5L, HGNC:HGNC:28907, ModBase:Q6UXX5, NCBI Gene:347365, RefSeq DNA:NG_013240, RefSeq DNA:NT_011630, RefSeq Protein:NP_940912, RefSeq RNA:NM_198510, UniProtKB:Q6UXX5 No chrX 54775332 54824673 54748899 54798240 +PA29968 3702 HGNC:6171 ENSG00000113263 IL2 inducible T cell kinase ITK IL2-inducible T-cell kinase EMT, LYK, PSCTK2 Yes No Comparative Toxicogenomics Database:3702, Ensembl:ENSG00000113263, GenAtlas:ITK, GeneCard:ITK, HGNC:HGNC:6171, HumanCyc Gene:HS03664, ModBase:Q08881, NCBI Gene:3702, OMIM:186973, OMIM:613011, RefSeq DNA:NG_016276, RefSeq DNA:NT_023133, RefSeq Protein:NP_005537, RefSeq RNA:NM_005546, UCSC Genome Browser:NM_005546, UniProtKB:Q08881 No chr5 156607907 156682109 157180896 157255185 +PA134870726 55600 HGNC:18259 ENSG00000179914 intelectin 1 ITLN1 intelectin 1 (galactofuranose binding), omentin FLJ20022, HL-1, ITLN, LFR, hIntL Yes No Comparative Toxicogenomics Database:55600, Ensembl:ENSG00000179914, GeneCard:ITLN1, HGNC:HGNC:18259, HumanCyc Gene:HS11427, ModBase:Q8WWA0, NCBI Gene:55600, OMIM:609873, RefSeq DNA:NT_004487, RefSeq Protein:NP_060095, RefSeq RNA:NM_017625, UniProtKB:Q8WWA0 No chr1 160846330 160854960 160876540 160885170 +PA134879128 142683 HGNC:20599 ENSG00000158764 intelectin 2 ITLN2 HL-2 Yes No Comparative Toxicogenomics Database:142683, Ensembl:ENSG00000158764, GeneCard:ITLN2, HGNC:HGNC:20599, HumanCyc Gene:HS08325, ModBase:Q8WWU7, NCBI Gene:142683, OMIM:609874, RefSeq DNA:NT_004487, RefSeq Protein:NP_543154, RefSeq RNA:NM_080878, UniProtKB:Q8WWU7 No chr1 160914810 160924589 160945020 160957378 +PA29970 9452 HGNC:6173 ENSG00000078596 integral membrane protein 2A ITM2A BRICHOS domain containing 2A BRICD2A, E25A Yes No Comparative Toxicogenomics Database:9452, Ensembl:ENSG00000078596, GenAtlas:ITM2A, GeneCard:ITM2A, HGNC:HGNC:6173, HumanCyc Gene:HS01292, ModBase:O43736, NCBI Gene:9452, OMIM:300222, RefSeq DNA:NG_016412, RefSeq DNA:NT_011651, RefSeq Protein:NP_001165052, RefSeq Protein:NP_004858, RefSeq RNA:NM_001171581, RefSeq RNA:NM_004867, UCSC Genome Browser:NM_004867, UniProtKB:B4E062, UniProtKB:O43736 No chrX 78615881 78623164 79360384 79367552 +PA29971 9445 HGNC:6174 ENSG00000136156 integral membrane protein 2B ITM2B BRICHOS domain containing 2B BRI, BRI2, BRICD2B, E25B, E3-16 Yes No Comparative Toxicogenomics Database:9445, Ensembl:ENSG00000136156, GenAtlas:ITM2B, GeneCard:ITM2B, HGNC:HGNC:6174, HumanCyc Gene:HS06123, ModBase:Q9Y287, NCBI Gene:9445, OMIM:117300, OMIM:176500, OMIM:603904, RefSeq DNA:NG_013069, RefSeq DNA:NT_024524, RefSeq Protein:NP_068839, RefSeq RNA:NM_021999, UCSC Genome Browser:NM_021999, UniProtKB:Q5W0A3, UniProtKB:Q9Y287 No chr13 48807274 48836232 48233138 48262096 +PA29972 81618 HGNC:6175 ENSG00000135916 integral membrane protein 2C ITM2C BRICHOS domain containing 2C BRI3, BRICD2C, E25, ITM3, hRPC.1050_D_4 Yes No Comparative Toxicogenomics Database:81618, Ensembl:ENSG00000135916, GenAtlas:ITM2C, GeneCard:ITM2C, HGNC:HGNC:6175, HumanCyc Gene:HS06083, NCBI Gene:81618, OMIM:609554, RefSeq DNA:NT_005403, RefSeq Protein:NP_001012532, RefSeq Protein:NP_001012534, RefSeq Protein:NP_112188, RefSeq RNA:NM_001012514, RefSeq RNA:NM_001012516, RefSeq RNA:NM_030926, UCSC Genome Browser:NM_030926, UniProtKB:Q9NQX7 No chr2 231729546 231743963 230864598 230879254 +PA29973 3704 HGNC:6176 ENSG00000125877 inosine triphosphatase ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase), nucleoside-triphosphate diphosphatase C20orf37, HLC14-06-P, dJ794I6.3 Yes Yes Comparative Toxicogenomics Database:3704, Ensembl:ENSG00000125877, GenAtlas:ITPA, GeneCard:ITPA, HGNC:HGNC:6176, HumanCyc Gene:HS13184, ModBase:Q9BY32, NCBI Gene:3704, OMIM:147520, RefSeq DNA:NG_012093, RefSeq DNA:NT_011387, RefSeq Protein:NP_258412, RefSeq Protein:NP_852470, RefSeq RNA:NM_033453, RefSeq RNA:NM_181493, UCSC Genome Browser:NM_033453, UniProtKB:B2BCH7, UniProtKB:Q9BY32 No chr20 3189514 3204516 3208868 3227449 +PA29974 3705 HGNC:6177 ENSG00000100605 inositol-tetrakisphosphate 1-kinase ITPK1 Yes No Comparative Toxicogenomics Database:3705, Ensembl:ENSG00000100605, GenAtlas:ITPK1, GeneCard:ITPK1, HGNC:HGNC:6177, HumanCyc Gene:HS02123, ModBase:Q13572, NCBI Gene:3705, OMIM:601838, RefSeq DNA:NT_026437, RefSeq Protein:NP_001136065, RefSeq Protein:NP_001136066, RefSeq Protein:NP_055031, RefSeq RNA:NM_001142593, RefSeq RNA:NM_001142594, RefSeq RNA:NM_014216, UCSC Genome Browser:NM_014216, UniProtKB:Q13572 No chr14 93403259 93582263 92936914 93115918 +PA165479052 319085 HGNC:20132 ENSG00000258730 ITPK1 antisense RNA 1 ITPK1-AS1 Yes No Ensembl:ENSG00000258730, GeneCard:ITPK1AS, HGNC:HGNC:20132, NCBI Gene:319085, RefSeq DNA:NT_026437, RefSeq RNA:NR_002808 No chr14 93533797 93538497 93067452 93072152 +PA29975 3706 HGNC:6178 ENSG00000137825 inositol-trisphosphate 3-kinase A ITPKA IP3-3KA, IP3KA Yes No Comparative Toxicogenomics Database:3706, Ensembl:ENSG00000137825, GenAtlas:ITPKA, GeneCard:ITPKA, HGNC:HGNC:6178, HumanCyc Gene:HS06405, ModBase:P23677, NCBI Gene:3706, OMIM:147521, RefSeq DNA:NT_010194, RefSeq Protein:NP_002211, RefSeq RNA:NM_002220, UCSC Genome Browser:NM_002220, UniProtKB:P23677 No chr15 41786056 41795757 41493858 41503559 +PA29976 3707 HGNC:6179 ENSG00000143772 inositol-trisphosphate 3-kinase B ITPKB IP3-3KB, IP3KB Yes No Comparative Toxicogenomics Database:3707, Ensembl:ENSG00000143772, GenAtlas:ITPKB, GeneCard:ITPKB, HGNC:HGNC:6179, HumanCyc Gene:HS07103, ModBase:P27987, NCBI Gene:3707, OMIM:147522, RefSeq DNA:NT_167186, RefSeq Protein:NP_002212, RefSeq RNA:NM_002221, UCSC Genome Browser:NM_002221, UniProtKB:B2R9J0, UniProtKB:P27987 No chr1 226819391 226927028 226631690 226739327 +PA29977 80271 HGNC:14897 ENSG00000086544 inositol-trisphosphate 3-kinase C ITPKC IP3-3KC, IP3KC Yes Yes Comparative Toxicogenomics Database:80271, Ensembl:ENSG00000086544, GenAtlas:ITPKC, GeneCard:ITPKC, HGNC:HGNC:14897, HumanCyc Gene:HS01533, ModBase:Q96DU7, NCBI Gene:80271, OMIM:606476, OMIM:611775, RefSeq DNA:NG_012970, RefSeq DNA:NT_011109, RefSeq Protein:NP_079470, RefSeq RNA:NM_025194, UCSC Genome Browser:NM_025194, UniProtKB:Q96DU7 No chr19 41222885 41246765 40717103 40740860 +PA29978 3708 HGNC:6180 ENSG00000150995 inositol 1,4,5-trisphosphate receptor type 1 ITPR1 """inositol 1,4,5-trisphosphate receptor, type 1"", ""protein phosphatase 1, regulatory subunit 94""" ACV, IP3R1, Insp3r1, PPP1R94, SCA15, SCA16, SCA29 Yes No Comparative Toxicogenomics Database:3708, Ensembl:ENSG00000150995, GenAtlas:ITPR1, GeneCard:ITPR1, HGNC:HGNC:6180, HumanCyc Gene:HS07700, NCBI Gene:3708, OMIM:147265, OMIM:606658, RefSeq DNA:NG_016144, RefSeq DNA:NT_022517, RefSeq Protein:NP_001093422, RefSeq Protein:NP_001161744, RefSeq Protein:NP_002213, RefSeq RNA:NM_001099952, RefSeq RNA:NM_001168272, RefSeq RNA:NM_002222, UCSC Genome Browser:NM_002222, UniProtKB:B4DER3, UniProtKB:B4DGH1, UniProtKB:Q14643, UniProtKB:Q59H91 No chr3 4535032 4889524 4493348 4847840 +PA29979 3709 HGNC:6181 ENSG00000123104 inositol 1,4,5-trisphosphate receptor type 2 ITPR2 """cilia and flagella associated protein 48"", ""inositol 1,4,5-trisphosphate receptor, type 2""" CFAP48, IP3R2 Yes No Comparative Toxicogenomics Database:3709, Ensembl:ENSG00000123104, GenAtlas:ITPR2, GeneCard:ITPR2, HGNC:HGNC:6181, HumanCyc Gene:HS04628, ModBase:Q14571, NCBI Gene:3709, OMIM:600144, RefSeq DNA:NT_009714, RefSeq Protein:NP_002214, RefSeq RNA:NM_002223, UCSC Genome Browser:NM_002223, UniProtKB:Q14571 No chr12 26488285 26986131 26335337 26833198 +PA29980 3710 HGNC:6182 ENSG00000096433 inositol 1,4,5-trisphosphate receptor type 3 ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 IP3R3 Yes No Comparative Toxicogenomics Database:3710, Ensembl:ENSG00000096433, GenAtlas:ITPR3, GeneCard:ITPR3, HGNC:HGNC:6182, HumanCyc Gene:HS01862, ModBase:Q14573, NCBI Gene:3710, OMIM:147267, OMIM:222100, RefSeq DNA:NT_007592, RefSeq Protein:NP_002215, RefSeq RNA:NM_002224, UCSC Genome Browser:NM_002224, UniProtKB:A6H8K3, UniProtKB:Q14573, UniProtKB:Q59ES2 No chr6 33587951 33664351 33621333 33696574 +PA162381298 223075 HGNC:27363 ENSG00000180347 ITPR interacting domain containing 1 ITPRID1 coiled-coil domain containing 129 CCDC129, FLJ38344 Yes No Ensembl:ENSG00000180347, GeneCard:CCDC129, HGNC:HGNC:27363, NCBI Gene:223075, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_919276, RefSeq RNA:NM_194300, UniProtKB:Q6ZRS4 No chr7 31553685 31698334 31514071 31658720 +PA36143 6744 HGNC:11319 ENSG00000138434 ITPR interacting domain containing 2 ITPRID2 KRAS-induced actin-interacting protein, cleavage signal-1 protein, sperm associated antigen 13, sperm specific antigen 2 CS-1, KIAA1927, KRAP, SPAG13, SSFA2 Yes No Ensembl:ENSG00000138434, GenAtlas:SSFA2, GeneCard:SSFA2, HGNC:HGNC:11319, NCBI Gene:6744, OMIM:118990, RefSeq DNA:NT_005403, RefSeq Protein:NP_001123917, RefSeq Protein:NP_006742, RefSeq RNA:NM_001130445, RefSeq RNA:NM_006751, UCSC Genome Browser:NM_006751, UniProtKB:P28290 No chr2 182756472 182795465 181891716 181930738 +PA162392344 85450 HGNC:29370 ENSG00000148841 inositol 1,4,5-trisphosphate receptor interacting protein ITPRIP DANGER family member 1A D1A, DANGER, KIAA1754, bA127L20.2 Yes No Ensembl:ENSG00000148841, GeneCard:ITPRIP, HGNC:HGNC:29370, ModBase:Q8IWB1, NCBI Gene:85450, RefSeq DNA:NT_030059, RefSeq Protein:NP_203755, RefSeq RNA:NM_033397, UniProtKB:Q8IWB1 No chr10 106069454 106098251 104309696 104338493 +PA162392345 150771 HGNC:29371 ENSG00000198885 ITPRIP like 1 ITPRIPL1 """DANGER family member 1B"", ""inositol 1,4,5-trisphosphate receptor interacting protein-like 1""" D1B, KIAA1754L Yes No Ensembl:ENSG00000198885, GeneCard:ITPRIPL1, HGNC:HGNC:29371, ModBase:Q6GPH6, NCBI Gene:150771, RefSeq DNA:NT_022171, RefSeq Protein:NP_001008949, RefSeq Protein:NP_001156995, RefSeq Protein:NP_001156996, RefSeq Protein:NP_848590, RefSeq RNA:NM_001008949, RefSeq RNA:NM_001163523, RefSeq RNA:NM_001163524, RefSeq RNA:NM_178495, UniProtKB:Q6GPH6 No chr2 96991062 96994091 96325324 96330507 +PA164721117 162073 HGNC:27257 ENSG00000205730 ITPRIP like 2 ITPRIPL2 """DANGER family member 1C"", ""inositol 1,4,5-trisphosphate receptor interacting protein-like 2""" D1C, FLJ22994, LOC162073, MGC126798, MGC126800 Yes No Ensembl:ENSG00000205730, GeneCard:ITPRIPL2, HGNC:HGNC:27257, ModBase:Q3MIP1, NCBI Gene:162073, RefSeq DNA:NT_010393, RefSeq Protein:NP_001030013, RefSeq RNA:NM_001034841, RefSeq RNA:NR_028028, UniProtKB:Q3MIP1 No chr16 19125254 19132952 19113932 19121630 +PA29981 6453 HGNC:6183 ENSG00000205726 intersectin 1 ITSN1 """SH3 domain protein-1A"", ""Src homology 3 domain-containing protein"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""intersectin 1 (SH3 domain protein)"", ""intersectin 1 short form variant 3"", ""intersectin 1 short form variant, 11"", ""intersectin short variant 12""" ITSN, MGC134948, MGC134949, SH3D1A, SH3P17 Yes No Comparative Toxicogenomics Database:6453, Ensembl:ENSG00000205726, GenAtlas:ITSN1, GeneCard:ITSN1, HGNC:HGNC:6183, ModBase:Q15811, NCBI Gene:6453, OMIM:602442, RefSeq DNA:NT_011512, RefSeq Protein:NP_001001132, RefSeq Protein:NP_003015, RefSeq RNA:NM_001001132, RefSeq RNA:NM_003024, UCSC Genome Browser:NM_003024, UniProtKB:Q15811, UniProtKB:Q6PD56 No chr21 35014706 35261609 33642400 33899861 +PA29982 50618 HGNC:6184 ENSG00000198399 intersectin 2 ITSN2 SH3 domain protein 1B, SH3P18-like WASP associated protein KIAA1256, PRO2015, SH3D1B, SH3P18, SWA, SWAP Yes No Comparative Toxicogenomics Database:50618, Ensembl:ENSG00000198399, GenAtlas:ITSN2, GeneCard:ITSN2, HGNC:HGNC:6184, ModBase:Q9NZM3, NCBI Gene:50618, OMIM:604464, RefSeq DNA:NT_022184, RefSeq Protein:NP_006268, RefSeq Protein:NP_062541, RefSeq Protein:NP_671494, RefSeq RNA:NM_006277, RefSeq RNA:NM_019595, RefSeq RNA:NM_147152, UCSC Genome Browser:NM_006277, UCSC Genome Browser:NM_019595, UniProtKB:A6H8W8, UniProtKB:Q9NZM3 No chr2 24425733 24583647 24202866 24360528 +PA29984 3712 HGNC:6186 ENSG00000128928 isovaleryl-CoA dehydrogenase IVD ACAD2, IVDH Yes No Comparative Toxicogenomics Database:3712, Ensembl:ENSG00000128928, GenAtlas:IVD, GeneCard:IVD, HGNC:HGNC:6186, HumanCyc Gene:HS05233, ModBase:P26440, NCBI Gene:3712, OMIM:243500, OMIM:607036, RefSeq DNA:NG_011986, RefSeq DNA:NT_010194, RefSeq Protein:NP_001152980, RefSeq Protein:NP_002216, RefSeq RNA:NM_001159508, RefSeq RNA:NM_002225, UCSC Genome Browser:NM_002225, UniProtKB:B3KVI7, UniProtKB:P26440 No chr15 40697686 40728146 40405485 40435948 +PA29985 3713 HGNC:6187 ENSG00000163207 involucrin IVL Yes Yes Comparative Toxicogenomics Database:3713, Ensembl:ENSG00000163207, GenAtlas:IVL, GeneCard:IVL, HGNC:HGNC:6187, HumanCyc Gene:HS08802, ModBase:P07476, NCBI Gene:3713, OMIM:147360, RefSeq DNA:NT_004487, RefSeq Protein:NP_005538, RefSeq RNA:NM_005547, UCSC Genome Browser:NM_005547, UniProtKB:P07476 No chr1 152881039 152884362 152908563 152911886 +PA134875300 10625 HGNC:16951 ENSG00000116679 influenza virus NS1A binding protein IVNS1ABP Aryl hydrocarbon receptor-associated protein 3, kelch-like family member 39 ARA3, HSPC068, KIAA0850, KLHL39, ND1, NS-1, NS1-BP Yes No Comparative Toxicogenomics Database:10625, Ensembl:ENSG00000116679, GeneCard:IVNS1ABP, HGNC:HGNC:16951, HumanCyc Gene:HS04034, ModBase:Q9Y6Y0, NCBI Gene:10625, OMIM:609209, RefSeq DNA:NT_004487, RefSeq Protein:NP_006460, RefSeq RNA:NM_006469, UniProtKB:Q9Y6Y0 No chr1 185265520 185286461 185292367 185317343 +PA144596419 55677 HGNC:25467 ENSG00000163166 interacts with SUPT6H, CTD assembly factor 1 IWS1 """IWS1 homolog (S. cerevisiae)"", ""IWS1, SUPT6H interacting protein""" DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319 Yes No Ensembl:ENSG00000163166, GeneCard:IWS1, HGNC:HGNC:25467, HumanCyc Gene:HS15034, NCBI Gene:55677, RefSeq DNA:NT_022135, RefSeq Protein:NP_060439, RefSeq RNA:NM_017969, UniProtKB:Q96ST2 No chr2 128238383 128284462 127480807 127526886 +PA162392352 389434 HGNC:21071 ENSG00000009765 iodotyrosine deiodinase IYD C6orf71, DEHAL1, dJ422F24.1 Yes No Ensembl:ENSG00000009765, GeneCard:IYD, HGNC:HGNC:21071, ModBase:Q7Z7D8, NCBI Gene:389434, OMIM:274800, OMIM:612025, RefSeq DNA:NG_016007, RefSeq DNA:NT_025741, RefSeq Protein:NP_001158166, RefSeq Protein:NP_001158167, RefSeq Protein:NP_981932, RefSeq RNA:NM_001164694, RefSeq RNA:NM_001164695, RefSeq RNA:NM_203395, UniProtKB:C9JFW2, UniProtKB:Q6PHW0 No chr6 150689987 150725765 150368854 150404629 +PA142671647 284359 HGNC:28539 ENSG00000182264 izumo sperm-oocyte fusion 1 IZUMO1 izumo sperm-egg fusion 1, oocyte binding/fusion factor IZUMO, MGC34799, OBF Yes No Ensembl:ENSG00000182264, GeneCard:IZUMO1, HGNC:HGNC:28539, ModBase:Q8IYV9, NCBI Gene:284359, OMIM:609278, RefSeq DNA:NT_011109, RefSeq Protein:NP_872381, RefSeq RNA:NM_182575, UniProtKB:Q8IYV9 No chr19 49244073 49250831 48740888 48747499 +PA164720096 390243 HGNC:32565 ENSG00000183560 IZUMO1 receptor, JUNO IZUMO1R folate receptor 4, delta (putative) FOLR4, Folbp3, JUNO Yes No Ensembl:ENSG00000183560, GeneCard:FOLR4, HGNC:HGNC:32565, NCBI Gene:390243, RefSeq DNA:NT_167190, RefSeq Protein:NP_001073955, RefSeq Protein:NP_001186135, RefSeq RNA:NM_001080486, RefSeq RNA:NM_001199206, UniProtKB:C9JJV3 No chr11 94038803 94040858 94305637 94307692 +PA165393535 126123 HGNC:28518 ENSG00000161652 IZUMO family member 2 IZUMO2 C19orf41, MGC33947, SCRL Yes No Ensembl:ENSG00000161652, GeneCard:IZUMO2, HGNC:HGNC:28518, HumanCyc Gene:HS14871, ModBase:Q6UXV1, NCBI Gene:126123, RefSeq DNA:NT_011109, RefSeq Protein:NP_689571, RefSeq RNA:NM_152358, UniProtKB:Q6UXV1 No chr19 50655805 50666538 50152548 50163281 +PA165585816 100129669 HGNC:31421 ENSG00000205442 IZUMO family member 3 IZUMO3 C9orf134, bA20A20.1 Yes No Ensembl:ENSG00000205442, GeneCard:IZUMO3, HGNC:HGNC:31421, NCBI Gene:100129669, RefSeq DNA:NT_008413, RefSeq Protein:XP_001716611, RefSeq Protein:XP_001716981, RefSeq Protein:XP_001718173, RefSeq RNA:XM_001716559, RefSeq RNA:XM_001716929, RefSeq RNA:XM_001718121 No chr9 24543193 24545889 24543214 24545930 +PA165393578 113177 HGNC:26950 ENSG00000099840 IZUMO family member 4 IZUMO4 C19orf36 Yes No Ensembl:ENSG00000099840, GeneCard:IZUMO4, HGNC:HGNC:26950, NCBI Gene:113177, RefSeq DNA:NT_011255, RefSeq Protein:NP_001026905, RefSeq Protein:NP_001034935, RefSeq RNA:NM_001031735, RefSeq RNA:NM_001039846, UniProtKB:A7RA93, UniProtKB:Q1ZYL8 No chr19 2096422 2099586 2096848 2099590 +PA134925124 79960 HGNC:30027 ENSG00000077684 jade family PHD finger 1 JADE1 PHD finger protein 17 JADE-1, JADE1, PHF17 Yes No Comparative Toxicogenomics Database:79960, Ensembl:ENSG00000077684, GeneCard:PHF17, HGNC:HGNC:30027, HumanCyc Gene:HS01254, ModBase:Q6IE81, NCBI Gene:79960, OMIM:610514, RefSeq DNA:NT_016354, RefSeq Protein:NP_079176, RefSeq Protein:NP_955352, RefSeq RNA:NM_024900, RefSeq RNA:NM_199320, UniProtKB:Q6IE81 No chr4 129730779 129796379 128809623 128875224 +PA128394627 23338 HGNC:22984 ENSG00000043143 jade family PHD finger 2 JADE2 PHD finger protein 15 JADE-2, KIAA0239, PHF15 Yes No Comparative Toxicogenomics Database:23338, Ensembl:ENSG00000043143, GeneCard:PHF15, HGNC:HGNC:22984, HumanCyc Gene:HS00568, ModBase:Q9NQC1, NCBI Gene:23338, OMIM:610515, RefSeq DNA:NT_034772, RefSeq Protein:NP_056103, RefSeq RNA:NM_015288, UCSC Genome Browser:NM_015288, UniProtKB:Q9NQC1 No chr5 133860003 133918918 134524154 134583230 +PA134993233 9767 HGNC:22982 ENSG00000102221 jade family PHD finger 3 JADE3 PHD finger protein 16 JADE-3, KIAA0215, PHF16 Yes No Ensembl:ENSG00000102221, GeneCard:PHF16, HGNC:HGNC:22982, HumanCyc Gene:HS02368, ModBase:Q92613, NCBI Gene:9767, OMIM:300618, RefSeq DNA:NG_013324, RefSeq DNA:NT_079573, RefSeq Protein:NP_001070913, RefSeq Protein:NP_055550, RefSeq RNA:NM_001077445, RefSeq RNA:NM_014735, UniProtKB:Q92613 No chrX 46771736 46920641 46912276 47061242 +PA29986 182 HGNC:6188 ENSG00000101384 jagged canonical Notch ligand 1 JAG1 jagged 1 AGS, AHD, AWS, CD339, HJ1, JAGL1 Yes No Comparative Toxicogenomics Database:182, Ensembl:ENSG00000101384, GenAtlas:JAG1, GeneCard:JAG1, HGNC:HGNC:6188, HumanCyc Gene:HS02257, ModBase:P78504, NCBI Gene:182, OMIM:118450, OMIM:187500, OMIM:601920, RefSeq DNA:NG_007496, RefSeq DNA:NT_011387, RefSeq Protein:NP_000205, RefSeq RNA:NM_000214, UCSC Genome Browser:NM_000214, UniProtKB:P78504, UniProtKB:Q99740 No chr20 10618332 10654694 10637684 10674046 +PA29987 3714 HGNC:6189 ENSG00000184916 jagged canonical Notch ligand 2 JAG2 jagged 2 Yes No Comparative Toxicogenomics Database:3714, Ensembl:ENSG00000184916, GenAtlas:JAG2, GeneCard:JAG2, HGNC:HGNC:6189, ModBase:Q9Y219, NCBI Gene:3714, OMIM:602570, RefSeq DNA:NT_026437, RefSeq Protein:NP_002217, RefSeq Protein:NP_660142, RefSeq RNA:NM_002226, RefSeq RNA:NM_145159, UCSC Genome Browser:NM_002226, UniProtKB:Q9Y219 No chr14 105607318 105635161 105140981 105168824 +PA134954931 84522 HGNC:26926 ENSG00000171135 jagunal homolog 1 JAGN1 jagunal homolog 1 (Drosophila) FLJ14602, GL009 Yes No Comparative Toxicogenomics Database:84522, Ensembl:ENSG00000171135, GeneCard:JAGN1, HGNC:HGNC:26926, HumanCyc Gene:HS15952, NCBI Gene:84522, RefSeq DNA:NT_022517, RefSeq Protein:NP_115881, RefSeq RNA:NM_032492, UniProtKB:Q8N5M9 No chr3 9932271 9936033 9890587 9894349 +PA29988 3716 HGNC:6190 ENSG00000162434 Janus kinase 1 JAK1 JAK1A, JAK1B, JTK3 Yes Yes Comparative Toxicogenomics Database:3716, Ensembl:ENSG00000162434, GenAtlas:JAK1, GeneCard:JAK1, HGNC:HGNC:6190, HumanCyc Gene:HS08677, ModBase:P23458, NCBI Gene:3716, OMIM:147795, RefSeq DNA:NG_023402, RefSeq DNA:NT_032977, RefSeq Protein:NP_002218, RefSeq RNA:NM_002227, UCSC Genome Browser:NM_002227, UniProtKB:P23458 No chr1 65298906 65432593 64833223 65067746 +PA29989 3717 HGNC:6192 ENSG00000096968 Janus kinase 2 JAK2 JTK10 Yes Yes Comparative Toxicogenomics Database:3717, Ensembl:ENSG00000096968, GenAtlas:JAK2, GeneCard:JAK2, HGNC:HGNC:6192, HumanCyc Gene:HS01872, HumanCyc Gene:HS11438, ModBase:O60674, NCBI Gene:3717, OMIM:147796, OMIM:187950, OMIM:254450, OMIM:263300, OMIM:600880, OMIM:601626, RefSeq DNA:NG_009904, RefSeq DNA:NT_008413, RefSeq Protein:NP_004963, RefSeq RNA:NM_004972, UCSC Genome Browser:NM_004972, UniProtKB:O60674 No chr9 4985245 5129948 4985086 5128183 +PA29990 3718 HGNC:6193 ENSG00000105639 Janus kinase 3 JAK3 leukocyte Janus kinase, tyrosine-protein kinase JAK3 JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK Yes No Comparative Toxicogenomics Database:3718, Ensembl:ENSG00000105639, GenAtlas:JAK3, GeneCard:JAK3, HGNC:HGNC:6193, HumanCyc Gene:HS02775, ModBase:P52333, NCBI Gene:3718, OMIM:600173, RefSeq DNA:NG_007273, RefSeq DNA:NT_011295, RefSeq Protein:NP_000206, RefSeq RNA:NM_000215, UCSC Genome Browser:NM_000215, UniProtKB:P52333 No chr19 17935591 17958880 17824782 17848071 +PA143485508 152789 HGNC:26460 ENSG00000152969 janus kinase and microtubule interacting protein 1 JAKMIP1 FLJ31564, Gababrbp, JAMIP1, MARLIN1 Yes No Ensembl:ENSG00000152969, GeneCard:JAKMIP1, HGNC:HGNC:26460, HumanCyc Gene:HS14451, ModBase:Q96N16, NCBI Gene:152789, OMIM:611195, RefSeq DNA:NT_006051, RefSeq Protein:NP_001092903, RefSeq Protein:NP_653321, RefSeq RNA:NM_001099433, RefSeq RNA:NM_144720, UniProtKB:Q96N16 No chr4 6026661 6202318 6024925 6200591 +PA143485509 9832 HGNC:29067 ENSG00000176049 janus kinase and microtubule interacting protein 2 JAKMIP2 JAMIP2, KIAA0555 Yes No Ensembl:ENSG00000176049, GeneCard:JAKMIP2, HGNC:HGNC:29067, HumanCyc Gene:HS12801, ModBase:Q96AA8, NCBI Gene:9832, OMIM:611197, RefSeq DNA:NT_029289, RefSeq Protein:NP_055605, RefSeq RNA:NM_014790, UniProtKB:Q96AA8 No chr5 146965002 147162411 147585439 147782848 +PA162392367 282973 HGNC:23523 ENSG00000188385 Janus kinase and microtubule interacting protein 3 JAKMIP3 neuroendocrine long coiled-coil 2 C10orf14, C10orf39, FLJ37857, KIAA4091, NECC2, bA140A10.5 Yes No Ensembl:ENSG00000188385, GeneCard:JAKMIP3, HGNC:HGNC:23523, ModBase:Q5VZ66, NCBI Gene:282973, OMIM:611198, RefSeq DNA:NT_008818, RefSeq DNA:NT_017795, RefSeq Protein:NP_001098991, RefSeq Protein:NP_919279, RefSeq RNA:NM_001105521, RefSeq RNA:NM_194303 No chr10 133879367 133998482 132036068 132184852 +PA29992 58494 HGNC:14686 ENSG00000154721 junctional adhesion molecule 2 JAM2 junctional adhesion molecule B, vascular endothelial junction-associated molecule C21orf43, CD322, JAM-2, JAM-B, JAMB, VE-JAM Yes No Comparative Toxicogenomics Database:58494, Ensembl:ENSG00000154721, GenAtlas:JAM2, GeneCard:JAM2, HGNC:HGNC:14686, HumanCyc Gene:HS08002, ModBase:P57087, NCBI Gene:58494, OMIM:606870, RefSeq DNA:NT_011512, RefSeq Protein:NP_067042, RefSeq RNA:NM_021219, UCSC Genome Browser:NM_021219, UniProtKB:P57087 No chr21 27011594 27089874 25639282 25717562 +PA29993 83700 HGNC:15532 ENSG00000166086 junctional adhesion molecule 3 JAM3 junctional adhesion molecule C JAM-3, JAM-C, JAMC Yes No Comparative Toxicogenomics Database:83700, Ensembl:ENSG00000166086, GenAtlas:JAM3, GeneCard:JAM3, HGNC:HGNC:15532, HumanCyc Gene:HS15401, ModBase:Q9BX67, NCBI Gene:83700, OMIM:606871, RefSeq DNA:NT_033899, RefSeq Protein:NP_001192258, RefSeq Protein:NP_116190, RefSeq RNA:NM_001205329, RefSeq RNA:NM_032801, UCSC Genome Browser:NM_032801, UniProtKB:Q9BX67 No chr11 133938820 134021652 134068925 134151757 +PA38792 120425 HGNC:19084 ENSG00000160593 junction adhesion molecule like JAML adhesion molecule, interacts with CXADR antigen 1 AMICA, AMICA1, Gm638 Yes No Ensembl:ENSG00000160593, GenAtlas:AMICA1, GeneCard:AMICA1, HGNC:HGNC:19084, HumanCyc Gene:HS14819, ModBase:Q86YT9, NCBI Gene:120425, OMIM:609770, RefSeq DNA:NT_033899, RefSeq Protein:NP_001091996, RefSeq Protein:NP_694938, RefSeq RNA:NM_001098526, RefSeq RNA:NM_153206, UniProtKB:B3KUI3, UniProtKB:Q86YT9 No chr11 118064442 118095809 118193727 118225094 +PA29995 3720 HGNC:6196 ENSG00000008083 jumonji and AT-rich interaction domain containing 2 JARID2 jumonji, AT rich interactive domain 2 JMJ Yes No Comparative Toxicogenomics Database:3720, Ensembl:ENSG00000008083, GenAtlas:JARID2, GeneCard:JARID2, HGNC:HGNC:6196, HumanCyc Gene:HS00229, ModBase:Q92833, NCBI Gene:3720, OMIM:601594, RefSeq DNA:NT_007592, RefSeq Protein:NP_004964, RefSeq RNA:NM_004973, UCSC Genome Browser:NM_004973, UniProtKB:Q92833 No chr6 15246206 15522273 15245975 15522042 +PA162392484 221895 HGNC:28917 ENSG00000153814 JAZF zinc finger 1 JAZF1 DKFZp761K2222, TIP27, ZNF802 Yes No Ensembl:ENSG00000153814, GeneCard:JAZF1, HGNC:HGNC:28917, ModBase:Q86VZ6, NCBI Gene:221895, OMIM:606246, RefSeq DNA:NG_011499, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_778231, RefSeq RNA:NM_175061, UniProtKB:Q86VZ6 No chr7 27870192 28220437 27830573 28180818 +PA134955526 57608 HGNC:29283 ENSG00000165757 junctional cadherin 5 associated JCAD junctional protein associated with coronary artery disease JCAD, KIAA1462 Yes No Ensembl:ENSG00000165757, GeneCard:KIAA1462, HGNC:HGNC:29283, ModBase:Q9P266, NCBI Gene:57608, RefSeq DNA:NT_008705, RefSeq Protein:NP_065899, RefSeq RNA:NM_020848, UniProtKB:Q9P266 No chr10 30301729 30348488 30012800 30069816 +PA29733 3512 HGNC:5713 ENSG00000132465 joining chain of multimeric IgA and IgM JCHAIN """IgJ chain"", ""J chain"", ""immunoglobulin J chain"", ""immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides""" IGCJ, IGJ, JCH Yes No Comparative Toxicogenomics Database:3512, Ensembl:ENSG00000132465, GenAtlas:IGJ, GeneCard:IGJ, HGNC:HGNC:5713, HumanCyc Gene:HS05639, NCBI Gene:3512, OMIM:147790, RefSeq DNA:NT_022778, RefSeq Protein:NP_653247, RefSeq RNA:NM_144646, UCSC Genome Browser:NM_144646, UniProtKB:P01591 No chr4 71521258 71532348 70655541 70676901 +PA162392499 122953 HGNC:17546 ENSG00000140044 Jun dimerization protein 2 JDP2 progesterone receptor co-activator JUNDM2 Yes No Ensembl:ENSG00000140044, GeneCard:JDP2, HGNC:HGNC:17546, HumanCyc Gene:HS06682, ModBase:Q8WYK2, NCBI Gene:122953, OMIM:608657, RefSeq DNA:NT_026437, RefSeq Protein:NP_001128519, RefSeq Protein:NP_001128520, RefSeq Protein:NP_001128521, RefSeq Protein:NP_569736, RefSeq RNA:NM_001135047, RefSeq RNA:NM_001135048, RefSeq RNA:NM_001135049, RefSeq RNA:NM_130469, UniProtKB:Q8WYK2 No chr14 75894509 75939404 75426685 75472701 +PA143485358 79864 HGNC:26288 ENSG00000109944 junctional cadherin complex regulator JHY chromosome 11 open reading frame 63, juvenile hydrocephalus C11orf63, FLJ23554, Jhy Yes No Ensembl:ENSG00000109944, GeneCard:C11orf63, HGNC:HGNC:26288, HumanCyc Gene:HS12706, ModBase:Q6NUN7, NCBI Gene:79864, RefSeq DNA:NT_033899, RefSeq Protein:NP_079082, RefSeq Protein:NP_954575, RefSeq RNA:NM_024806, RefSeq RNA:NM_199124, UniProtKB:B3KUM2, UniProtKB:Q6NUN7 No chr11 122753236 122830430 122881640 122963862 +PA165479069 51528 HGNC:20184 ENSG00000050130 JNK1/MAPK8 associated membrane protein JKAMP JNK1/MAPK8-associated membrane protein, Jun N-terminal kinase 1-associated membrane protein C14orf100, CDA06, HSPC213, HSPC327, JAMP Yes No Ensembl:ENSG00000050130, GeneCard:JKAMP, HGNC:HGNC:20184, HumanCyc Gene:HS12120, NCBI Gene:51528, OMIM:611176, RefSeq DNA:NT_026437, RefSeq Protein:NP_001092095, RefSeq Protein:NP_057559, RefSeq RNA:NM_001098625, RefSeq RNA:NM_016475, UniProtKB:Q9P055 No chr14 59951161 59972081 59484443 59505407 +PA128394767 221037 HGNC:12313 ENSG00000171988 jumonji domain containing 1C JMJD1C DKFZp761F0118, FLJ14374, KDM3C, KIAA1380, TRIP8 Yes No Comparative Toxicogenomics Database:221037, Ensembl:ENSG00000171988, GenAtlas:JMJD1C, GeneCard:JMJD1C, HGNC:HGNC:12313, ModBase:Q15652, NCBI Gene:221037, OMIM:604503, RefSeq DNA:NT_030059, RefSeq Protein:NP_004232, RefSeq Protein:NP_116165, RefSeq RNA:NM_004241, RefSeq RNA:NM_032776, UCSC Genome Browser:NM_004241, UniProtKB:A0T124, UniProtKB:Q15652 No chr10 64926983 65225880 63167221 63522075 +PA142671643 65094 HGNC:25724 ENSG00000081692 jumonji domain containing 4 JMJD4 2-oxoglutarate- and Fe(II)-dependent oxygenase, C4 lysyl hydroxylase FLJ12517 Yes No Ensembl:ENSG00000081692, GeneCard:JMJD4, HGNC:HGNC:25724, HumanCyc Gene:HS12263, ModBase:Q9H9V9, NCBI Gene:65094, RefSeq DNA:NT_167186, RefSeq Protein:NP_001154937, RefSeq Protein:NP_075383, RefSeq RNA:NM_001161465, RefSeq RNA:NM_023007, UniProtKB:Q9H9V9 No chr1 227918890 227923284 227731189 227735423 +PA162392513 23210 HGNC:19355 ENSG00000070495 jumonji domain containing 6, arginine demethylase and lysine hydroxylase JMJD6 jumonji domain containing 6 KIAA0585, PTDSR, PTDSR1 Yes No Ensembl:ENSG00000070495, GeneCard:JMJD6, HGNC:HGNC:19355, HumanCyc Gene:HS12211, ModBase:Q6NYC1, NCBI Gene:23210, OMIM:604914, RefSeq DNA:NT_010783, RefSeq Protein:NP_001074930, RefSeq Protein:NP_055982, RefSeq RNA:NM_001081461, RefSeq RNA:NM_015167, UniProtKB:Q6NYC1 No chr17 74708914 74722881 76712830 76726799 +PA162392530 100137047 HGNC:34397 ENSG00000243789 jumonji domain containing 7 JMJD7 Yes No Ensembl:ENSG00000243789, GeneCard:JMJD7, HGNC:HGNC:34397, ModBase:P0C870, NCBI Gene:100137047, RefSeq DNA:NT_010194, RefSeq Protein:NP_001108104, RefSeq RNA:NM_001114632, UniProtKB:P0C870 No chr15 42120283 42129785 41828085 41837587 +PA165479070 8681 HGNC:34449 ENSG00000168970 JMJD7-PLA2G4B readthrough JMJD7-PLA2G4B Yes No Ensembl:ENSG00000168970, GeneCard:JMJD7-PLA2G4B, HGNC:HGNC:34449, HumanCyc Gene:HS09860, NCBI Gene:8681, RefSeq DNA:NT_010194, RefSeq Protein:NP_001185517, RefSeq Protein:NP_005081, RefSeq RNA:NM_001198588, RefSeq RNA:NM_005090, RefSeq RNA:NR_015346, UniProtKB:P0C869 No chr15 42120283 42140346 41828085 41848148 +PA162392531 339123 HGNC:14148 ENSG00000161999 jumonji domain containing 8 JMJD8 C16orf20 Yes No Ensembl:ENSG00000161999, GeneCard:JMJD8, HGNC:HGNC:14148, ModBase:Q96S16, NCBI Gene:339123, RefSeq DNA:NT_010393, RefSeq Protein:NP_001005920, RefSeq RNA:NM_001005920, UniProtKB:Q96S16 No chr16 731667 734440 681666 684446 +PA164721124 133746 HGNC:28916 ENSG00000152409 junction mediating and regulatory protein, p53 cofactor JMY FLJ37870, WHAMM2 Yes No Ensembl:ENSG00000152409, GeneCard:JMY, HGNC:HGNC:28916, HumanCyc Gene:HS14430, NCBI Gene:133746, OMIM:604279, RefSeq DNA:NT_006713, RefSeq Protein:NP_689618, RefSeq RNA:NM_152405, UniProtKB:Q8N9B5 No chr5 78531925 78623038 79236102 79327215 +PA142671644 9929 HGNC:28953 ENSG00000100221 Josephin domain containing 1 JOSD1 josephin-1 KIAA0063 Yes No Ensembl:ENSG00000100221, GeneCard:JOSD1, HGNC:HGNC:28953, HumanCyc Gene:HS02007, ModBase:Q15040, NCBI Gene:9929, RefSeq DNA:NT_011520, RefSeq Protein:NP_055691, RefSeq RNA:NM_014876, UniProtKB:Q15040 No chr22 39081548 39097423 38685543 38701418 +PA142671645 126119 HGNC:28853 ENSG00000161677 Josephin domain containing 2 JOSD2 josephin-2 SBBI54 Yes No Ensembl:ENSG00000161677, GeneCard:JOSD2, HGNC:HGNC:28853, HumanCyc Gene:HS08607, ModBase:Q8TAC2, NCBI Gene:126119, RefSeq DNA:NT_011109, RefSeq Protein:NP_612207, RefSeq RNA:NM_138334, UniProtKB:Q8TAC2 No chr19 51009254 51014612 50505997 50511355 +PA29998 56704 HGNC:14201 ENSG00000104369 junctophilin 1 JPH1 junctophilin1 JP-1, JP1 Yes No Ensembl:ENSG00000104369, GenAtlas:JPH1, GeneCard:JPH1, HGNC:HGNC:14201, HumanCyc Gene:HS02573, ModBase:Q9HDC5, NCBI Gene:56704, OMIM:605266, RefSeq DNA:NT_008183, RefSeq Protein:NP_065698, RefSeq RNA:NM_020647, UCSC Genome Browser:NM_020647, UniProtKB:Q7Z682, UniProtKB:Q86VR1, UniProtKB:Q9HDC5 No chr8 75146935 75233721 74234700 74321545 +PA29999 57158 HGNC:14202 ENSG00000149596 junctophilin 2 JPH2 junctophilin2 JP-2, JP2 Yes No Comparative Toxicogenomics Database:57158, Ensembl:ENSG00000149596, GenAtlas:JPH2, GeneCard:JPH2, HGNC:HGNC:14202, HumanCyc Gene:HS07631, ModBase:Q9BR39, NCBI Gene:57158, OMIM:605267, RefSeq DNA:NT_011362, RefSeq Protein:NP_065166, RefSeq Protein:NP_787109, RefSeq RNA:NM_020433, RefSeq RNA:NM_175913, UCSC Genome Browser:NM_020433, UniProtKB:Q86VZ3, UniProtKB:Q9BR39 No chr20 42740337 42816218 44111697 44187578 +PA30000 57338 HGNC:14203 ENSG00000154118 junctophilin 3 JPH3 junctophilin3 CAGL237, HDL2, JP-3, JP3, TNRC22 Yes No Comparative Toxicogenomics Database:57338, Ensembl:ENSG00000154118, GenAtlas:JPH3, GeneCard:JPH3, HGNC:HGNC:14203, HumanCyc Gene:HS14506, ModBase:Q8WXH2, NCBI Gene:57338, OMIM:605268, OMIM:606438, RefSeq DNA:NG_009797, RefSeq DNA:NT_010498, RefSeq Protein:NP_065706, RefSeq RNA:NM_020655, UCSC Genome Browser:NM_020655, UniProtKB:B3KP13, UniProtKB:Q8WXH2 No chr16 87635441 87731762 87601835 87698156 +PA134897649 84502 HGNC:20156 ENSG00000092051 junctophilin 4 JPH4 junctophilin-4 JP4, JPHL1, KIAA1831 Yes No Comparative Toxicogenomics Database:84502, Ensembl:ENSG00000092051, GeneCard:JPH4, HGNC:HGNC:20156, ModBase:Q96JJ6, NCBI Gene:84502, RefSeq DNA:NT_026437, RefSeq Protein:NP_001139500, RefSeq Protein:NP_115828, RefSeq RNA:NM_001146028, RefSeq RNA:NM_032452, UniProtKB:Q96JJ6 No chr14 24037244 24048009 23568035 23578800 +PA29347 51155 HGNC:14569 ENSG00000189159 Jupiter microtubule associated homolog 1 JPT1 androgen-regulated protein 2, hematological and neurological expressed 1 ARM2, HN1, HN1A Yes No Comparative Toxicogenomics Database:51155, Ensembl:ENSG00000189159, GenAtlas:HN1, GeneCard:HN1, HGNC:HGNC:14569, ModBase:Q9UK76, NCBI Gene:51155, RefSeq DNA:NT_010783, RefSeq Protein:NP_001002032, RefSeq Protein:NP_001002033, RefSeq Protein:NP_057269, RefSeq RNA:NM_001002032, RefSeq RNA:NM_001002033, RefSeq RNA:NM_016185, UCSC Genome Browser:NM_016185, UniProtKB:Q9UK76 No chr17 73131343 73150775 75135243 75154683 +PA162391043 90861 HGNC:14137 ENSG00000206053 Jupiter microtubule associated homolog 2 JPT2 hematological and neurological expressed 1-like C16orf34, FLJ13092, HN1L, KIAA1426, L11 Yes No Ensembl:ENSG00000206053, GeneCard:HN1L, HGNC:HGNC:14137, HumanCyc Gene:HS12026, ModBase:Q9H910, NCBI Gene:90861, RefSeq DNA:NT_010393, RefSeq Protein:NP_653171, RefSeq RNA:NM_144570, UniProtKB:Q9H910 No chr16 1728201 1752073 1678277 1702072 +PA165757157 554203 HGNC:37191 ENSG00000225470 JPX transcript, XIST activator (non-protein coding) JPX expressed neighbor of XIST, just proximal to XIST ENOX, LINC00183 Yes No Ensembl:ENSG00000225470, GeneCard:JPX, HGNC:HGNC:37191, NCBI Gene:554203, RefSeq DNA:NT_011669, RefSeq RNA:NR_024582 No chrX 73164159 73290219 73944324 74070384 +PA30001 8629 HGNC:6199 ENSG00000234616 Jrk helix-turn-helix protein JRK Jrk homolog (mouse), jerky homolog (mouse) JH8, jerky Yes No Comparative Toxicogenomics Database:8629, Ensembl:ENSG00000234616, GenAtlas:JRK, GeneCard:JRK, HGNC:HGNC:6199, ModBase:O75564, NCBI Gene:8629, OMIM:603210, RefSeq DNA:NG_012215, RefSeq DNA:NT_008046, RefSeq Protein:NP_001070995, RefSeq Protein:NP_003715, RefSeq RNA:NM_001077527, RefSeq RNA:NM_003724, UCSC Genome Browser:NM_003724 No chr8 143738874 143751412 142651501 142670132 +PA30002 8690 HGNC:6200 ENSG00000183340 JRK like JRKL JRK-like, jerky homolog-like (mouse) HHMJG Yes No Ensembl:ENSG00000183340, GenAtlas:JRKL, GeneCard:JRKL, HGNC:HGNC:6200, ModBase:Q9Y4A0, NCBI Gene:8690, OMIM:603211, RefSeq DNA:NT_167190, RefSeq Protein:NP_003763, RefSeq RNA:NM_003772, UCSC Genome Browser:NM_003772, UniProtKB:Q9Y4A0 No chr11 96123158 96126727 96389994 96393563 +PA143485511 126306 HGNC:24963 ENSG00000167476 junctional sarcoplasmic reticulum protein 1 JSRP1 homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45 FLJ32416, JP-45 Yes No Ensembl:ENSG00000167476, GeneCard:JSRP1, HGNC:HGNC:24963, HumanCyc Gene:HS15555, ModBase:Q96MG2, NCBI Gene:126306, OMIM:608743, RefSeq DNA:NT_011255, RefSeq Protein:NP_653217, RefSeq RNA:NM_144616, UniProtKB:Q96MG2 No chr19 2252250 2256422 2252251 2260813 +PA30003 10899 HGNC:6201 ENSG00000143543 jumping translocation breakpoint JTB prostate androgen-regulated gene PAR, hJT Yes No Comparative Toxicogenomics Database:10899, Ensembl:ENSG00000143543, GenAtlas:JTB, GeneCard:JTB, HGNC:HGNC:6201, HumanCyc Gene:HS07072, NCBI Gene:10899, OMIM:604671, RefSeq DNA:NT_004487, RefSeq Protein:NP_006685, RefSeq RNA:NM_006694, UCSC Genome Browser:NM_006694, UniProtKB:O76095, UniProtKB:Q6IB19 No chr1 153946745 153951096 153974269 153977975 +PA30006 3725 HGNC:6204 ENSG00000177606 Jun proto-oncogene, AP-1 transcription factor subunit JUN jun proto-oncogene AP-1, c-Jun Yes No Comparative Toxicogenomics Database:3725, Ensembl:ENSG00000177606, GenAtlas:JUN, GeneCard:JUN, HGNC:HGNC:6204, HumanCyc Gene:HS11192, ModBase:P05412, NCBI Gene:3725, OMIM:165160, RefSeq DNA:NT_032977, RefSeq Protein:NP_002219, RefSeq RNA:NM_002228, UCSC Genome Browser:NM_002228, UniProtKB:P05412 No chr1 59246463 59249785 58780791 58784113 +PA30007 3726 HGNC:6205 ENSG00000171223 JunB proto-oncogene, AP-1 transcription factor subunit JUNB jun B proto-oncogene Yes No Comparative Toxicogenomics Database:3726, Ensembl:ENSG00000171223, GenAtlas:JUNB, GeneCard:JUNB, HGNC:HGNC:6205, HumanCyc Gene:HS10270, ModBase:P17275, NCBI Gene:3726, OMIM:165161, RefSeq DNA:NT_011295, RefSeq Protein:NP_002220, RefSeq RNA:NM_002229, UCSC Genome Browser:NM_002229, UniProtKB:P17275, UniProtKB:Q5U079 No chr19 12902310 12904125 12791496 12793311 +PA30008 3727 HGNC:6206 ENSG00000130522 JunD proto-oncogene, AP-1 transcription factor subunit JUND JunD-FL isoform, activator protein 1, jun D proto-oncogene, transcription factor jun-D AP-1 Yes No Comparative Toxicogenomics Database:3727, Ensembl:ENSG00000130522, GenAtlas:JUND, GeneCard:JUND, HGNC:HGNC:6206, HumanCyc Gene:HS05397, ModBase:P17535, NCBI Gene:3727, OMIM:165162, RefSeq DNA:NT_011295, RefSeq Protein:NP_005345, RefSeq RNA:NM_005354, UCSC Genome Browser:NM_005354, UniProtKB:P17535 No chr19 18390563 18392432 18279694 18281656 +PA30009 3728 HGNC:6207 ENSG00000173801 junction plakoglobin JUP desmosomal protein 3 CTNNG, DP3, DPIII, PDGB, PG, PKGB Yes No Comparative Toxicogenomics Database:3728, Ensembl:ENSG00000173801, GenAtlas:JUP, GeneCard:JUP, HGNC:HGNC:6207, HumanCyc Gene:HS10732, ModBase:P14923, NCBI Gene:3728, OMIM:173325, OMIM:601214, OMIM:611528, RefSeq DNA:NG_009090, RefSeq DNA:NT_010783, RefSeq Protein:NP_002221, RefSeq Protein:NP_068831, RefSeq RNA:NM_002230, RefSeq RNA:NM_021991, UCSC Genome Browser:NM_002230, UniProtKB:P14923 No chr17 39910859 39942964 41754607 41786853 +PA134915618 353219 HGNC:21031 ENSG00000146049 kidney associated antigen 1 KAAG1 RU2, RU2AS Yes No Ensembl:ENSG00000146049, GeneCard:KAAG1, HGNC:HGNC:21031, NCBI Gene:353219, OMIM:608211, RefSeq DNA:NT_007592, RefSeq Protein:NP_851854, RefSeq RNA:NM_181337, UniProtKB:Q9UBP8 No chr6 24357131 24358512 24356903 24358284 +PA29189 8997 HGNC:4814 ENSG00000160145 kalirin RhoGEF kinase KALRN """kalirin, RhoGEF kinase"", ""serine/threonine kinase with Dbl and pleckstrin homology domains""" ARHGEF24, DUET, HAPIP, Hs.8004, KALNC2, Kalirin, TRAD, duo Yes No Comparative Toxicogenomics Database:8997, Ensembl:ENSG00000160145, GenAtlas:KALRN, GeneCard:KALRN, HGNC:HGNC:4814, ModBase:O60229, NCBI Gene:8997, OMIM:604605, RefSeq DNA:NG_012742, RefSeq DNA:NT_005612, RefSeq Protein:NP_001019831, RefSeq Protein:NP_003938, RefSeq Protein:NP_008995, RefSeq RNA:NM_001024660, RefSeq RNA:NM_003947, RefSeq RNA:NM_007064, RefSeq RNA:NR_028136, UCSC Genome Browser:NM_003947, UniProtKB:C9JQ37, UniProtKB:O60229 No chr3 123813558 124440036 124033341 124726325 +PA162392554 23189 HGNC:19309 ENSG00000107104 KN motif and ankyrin repeat domains 1 KANK1 Kidney ankyrin repeat-containing protein ANKRD15, KANK, KIAA0172 Yes No Ensembl:ENSG00000107104, GeneCard:KANK1, HGNC:HGNC:19309, HumanCyc Gene:HS12651, ModBase:Q14678, NCBI Gene:23189, OMIM:607704, OMIM:612900, RefSeq DNA:NG_016331, RefSeq DNA:NT_008413, RefSeq Protein:NP_055973, RefSeq Protein:NP_694856, RefSeq RNA:NM_015158, RefSeq RNA:NM_153186, RefSeq RNA:XR_108921, RefSeq RNA:XR_108922, UniProtKB:A2A2W8, UniProtKB:Q14678 No chr9 470294 746106 470294 746106 +PA162392581 25959 HGNC:29300 ENSG00000197256 KN motif and ankyrin repeat domains 2 KANK2 steroid receptor coactivator interacting protein ANKRD25, KIAA1518, MXRA3, SIP Yes No Comparative Toxicogenomics Database:25959, Ensembl:ENSG00000197256, GeneCard:KANK2, HGNC:HGNC:29300, NCBI Gene:25959, RefSeq DNA:NT_011295, RefSeq Protein:NP_001129663, RefSeq Protein:NP_056308, RefSeq RNA:NM_001136191, RefSeq RNA:NM_015493, UniProtKB:Q63ZY3 No chr19 11274943 11308243 11164267 11197567 +PA162392612 256949 HGNC:24796 ENSG00000186994 KN motif and ankyrin repeat domains 3 KANK3 ANKRD47, FLJ46061 Yes No Ensembl:ENSG00000186994, GeneCard:KANK3, HGNC:HGNC:24796, ModBase:Q6NY19, NCBI Gene:256949, RefSeq DNA:NT_077812, RefSeq Protein:NP_940873, RefSeq RNA:NM_198471, UniProtKB:Q6NY19 No chr19 8387468 8408146 8322584 8343262 +PA162392639 163782 HGNC:27263 ENSG00000132854 KN motif and ankyrin repeat domains 4 KANK4 ANKRD38, KIAA0172 Yes No Ensembl:ENSG00000132854, GeneCard:KANK4, HGNC:HGNC:27263, ModBase:Q5T7N3, NCBI Gene:163782, RefSeq DNA:NT_032977, RefSeq Protein:NP_859063, RefSeq RNA:NM_181712, UniProtKB:Q5T7N3 No chr1 62701837 62785083 62236165 62319414 +PA142671604 284058 HGNC:24565 ENSG00000120071 KAT8 regulatory NSL complex subunit 1 KANSL1 centromere protein 36 CENP-36, DKFZP727C091, KIAA1267, MSL1v1, NSL1 Yes Yes Ensembl:ENSG00000120071, GeneCard:KIAA1267, HGNC:HGNC:24565, ModBase:Q7Z3B3, NCBI Gene:284058, OMIM:612452, RefSeq DNA:NT_010783, RefSeq DNA:NT_167251, RefSeq Protein:NP_001180394, RefSeq Protein:NP_001180395, RefSeq Protein:NP_056258, RefSeq RNA:NM_001193465, RefSeq RNA:NM_001193466, RefSeq RNA:NM_015443, UniProtKB:Q7Z3B3 No chr17 44107282 44302740 46029916 46225374 +PA162379439 151050 HGNC:26310 ENSG00000144445 KAT8 regulatory NSL complex subunit 1 like KANSL1L KAT8 regulatory NSL complex subunit 1-like, KIAA1267-like C2orf67, FLJ23861, FLJ32349, KIAA1267L, MSL1v2 Yes No Ensembl:ENSG00000144445, GeneCard:C2orf67, HGNC:HGNC:26310, HumanCyc Gene:HS14024, ModBase:A0AUZ9, NCBI Gene:151050, RefSeq DNA:NT_005403, RefSeq Protein:NP_689732, RefSeq RNA:NM_152519, UniProtKB:A0AUZ9 No chr2 210885435 211036068 210021421 210171370 +PA143485371 54934 HGNC:26024 ENSG00000139620 KAT8 regulatory NSL complex subunit 2 KANSL2 C12orf41, FLJ20436, NSL2 Yes No Ensembl:ENSG00000139620, GeneCard:C12orf41, HGNC:HGNC:26024, HumanCyc Gene:HS13788, NCBI Gene:54934, RefSeq DNA:NT_029419, RefSeq Protein:NP_060292, RefSeq RNA:NM_017822, UniProtKB:Q9H9L4 No chr12 49046994 49076035 48653211 48682252 +PA162393058 55683 HGNC:25473 ENSG00000114982 KAT8 regulatory NSL complex subunit 3 KANSL3 FLJ10081, KIAA1310, NSL3, Rcd1 Yes No Ensembl:ENSG00000114982, GeneCard:KIAA1310, HGNC:HGNC:25473, HumanCyc Gene:HS12831, NCBI Gene:55683, RefSeq DNA:NT_022171, RefSeq Protein:NP_001108488, RefSeq Protein:NP_060461, RefSeq RNA:NM_001115016, RefSeq RNA:NM_017991, UniProtKB:Q9P2N6 No chr2 97258892 97304116 96593155 96638379 +PA166351927 102723508 HGNC:49510 KANTR integral membrane protein KANTR LINC01155, Spasm Yes No HGNC:HGNC:49510, NCBI Gene:102723508 No 0 0 0 0 +PA30016 3735 HGNC:6215 lysyl-tRNA synthetase 1 KARS1 lysine tRNA ligase, lysyl-tRNA synthetase DFNB89, KARS, KARS1, KARS2 Yes No Comparative Toxicogenomics Database:3735, GenAtlas:KARS, GeneCard:KARS, HGNC:HGNC:6215, HumanCyc Gene:HS00840, ModBase:Q15046, NCBI Gene:3735, OMIM:601421, RefSeq DNA:NT_010498, RefSeq Protein:NP_001123561, RefSeq Protein:NP_005539, RefSeq RNA:NM_001130089, RefSeq RNA:NM_005548, UCSC Genome Browser:NM_005548, UniProtKB:Q15046 No chr16 75661622 75681585 75627724 75647687 +PA162381684 147872 HGNC:26520 KASH domain containing 5 KASH5 coiled-coil domain containing 155 CCDC155, FLJ32658, KASH5 Yes No GeneCard:CCDC155, HGNC:HGNC:26520, HumanCyc Gene:HS14867, ModBase:Q8N6L0, NCBI Gene:147872, RefSeq DNA:NT_011109, RefSeq Protein:NP_653289, RefSeq RNA:NM_144688, UCSC Genome Browser:NM_144688, UniProtKB:Q8N6L0 No chr19 49891475 49921256 49388218 49418002 +PA26969 57325 HGNC:15904 ENSG00000149474 lysine acetyltransferase 14 KAT14 ATAC component 2 homolog (Drosophila), CSRP2 binding protein, cysteine rich protein 2 binding protein ATAC2, CRP2BP, CSRP2BP, KAT14, PRO1194, dJ717M23.1 Yes No Comparative Toxicogenomics Database:57325, Ensembl:ENSG00000149474, GenAtlas:CSRP2BP, GeneCard:CSRP2BP, HGNC:HGNC:15904, HumanCyc Gene:HS07614, ModBase:Q9H8E8, NCBI Gene:57325, RefSeq DNA:NT_011387, RefSeq Protein:NP_065397, RefSeq Protein:NP_808779, RefSeq RNA:NM_020536, RefSeq RNA:NM_177926, RefSeq RNA:NR_028402, UCSC Genome Browser:NM_020536, UniProtKB:Q9H8E8 No chr20 18122868 18169031 18142224 18188387 +PA162392664 2648 HGNC:4201 ENSG00000108773 lysine acetyltransferase 2A KAT2A K(lysine) acetyltransferase 2A GCN5, GCN5L2, PCAF-b Yes No Ensembl:ENSG00000108773, GeneCard:KAT2A, HGNC:HGNC:4201, HumanCyc Gene:HS03151, NCBI Gene:2648, OMIM:602301, RefSeq DNA:NT_010783, RefSeq Protein:NP_066564, RefSeq RNA:NM_021078, UniProtKB:Q92830 No chr17 40265129 40273382 42113111 42121393 +PA162392705 8850 HGNC:8638 ENSG00000114166 lysine acetyltransferase 2B KAT2B K(lysine) acetyltransferase 2B GCN5, GCN5L, P/CAF, PCAF Yes Yes Ensembl:ENSG00000114166, GeneCard:KAT2B, HGNC:HGNC:8638, HumanCyc Gene:HS03746, NCBI Gene:8850, OMIM:602303, RefSeq DNA:NT_022517, RefSeq Protein:NP_003875, RefSeq RNA:NM_003884, UniProtKB:Q92831 No chr3 20081524 20195896 20040032 20154404 +PA162392746 10524 HGNC:5275 ENSG00000172977 lysine acetyltransferase 5 KAT5 """K(lysine) acetyltransferase 5"", ""K-acetyltransferase 5"", ""Tat interacting protein, 60kDa""" ESA1, HTATIP, HTATIP1, PLIP, TIP60, ZC2HC5, cPLA2 Yes No Ensembl:ENSG00000172977, GeneCard:KAT5, HGNC:HGNC:5275, HumanCyc Gene:HS10602, NCBI Gene:10524, OMIM:601409, RefSeq DNA:NT_167190, RefSeq Protein:NP_001193762, RefSeq Protein:NP_006379, RefSeq Protein:NP_874368, RefSeq Protein:NP_874369, RefSeq RNA:NM_001206833, RefSeq RNA:NM_006388, RefSeq RNA:NM_182709, RefSeq RNA:NM_182710, UniProtKB:C9JL99, UniProtKB:Q92993 No chr11 65479473 65487077 65711996 65719606 +PA37592 7994 HGNC:13013 ENSG00000083168 lysine acetyltransferase 6A KAT6A K(lysine) acetyltransferase 6A, Monocytic leukemia zinc finger protein MOZ, MYST3, RUNXBP2, ZC2HC6A, ZNF220 Yes No Ensembl:ENSG00000083168, GeneCard:MYST3, HGNC:HGNC:13013, HumanCyc Gene:HS01435, ModBase:Q92794, NCBI Gene:7994, OMIM:601408, RefSeq DNA:NT_167187, RefSeq Protein:NP_001092882, RefSeq Protein:NP_001092883, RefSeq Protein:NP_006757, RefSeq RNA:NM_001099412, RefSeq RNA:NM_001099413, RefSeq RNA:NM_006766, UCSC Genome Browser:NM_006766, UniProtKB:A5PKX7, UniProtKB:Q92794 No chr8 41786997 41909506 41929479 42052026 +PA134880712 23522 HGNC:17582 ENSG00000156650 lysine acetyltransferase 6B KAT6B K(lysine) acetyltransferase 6B, MOZ-related factor MOZ2, MYST4, Morf, ZC2HC6B, qkf, querkopf Yes No Comparative Toxicogenomics Database:23522, Ensembl:ENSG00000156650, GeneCard:MYST4, HGNC:HGNC:17582, HumanCyc Gene:HS08145, ModBase:Q8WYB5, NCBI Gene:23522, OMIM:605880, RefSeq DNA:NT_030059, RefSeq Protein:NP_036462, RefSeq RNA:NM_012330, UniProtKB:Q8WYB5 No chr10 76584685 76792380 74824927 75032623 +PA134886407 11143 HGNC:17016 ENSG00000136504 lysine acetyltransferase 7 KAT7 K(lysine) acetyltransferase 7, histone acetyltransferase binding to ORC1 HBO1, HBOA, MYST2, ZC2HC7 Yes No Ensembl:ENSG00000136504, GeneCard:MYST2, HGNC:HGNC:17016, HumanCyc Gene:HS06172, ModBase:O95251, NCBI Gene:11143, OMIM:609880, RefSeq DNA:NT_010783, RefSeq Protein:NP_001186084, RefSeq Protein:NP_001186085, RefSeq Protein:NP_001186086, RefSeq Protein:NP_001186087, RefSeq Protein:NP_008998, RefSeq RNA:NM_001199155, RefSeq RNA:NM_001199156, RefSeq RNA:NM_001199157, RefSeq RNA:NM_001199158, RefSeq RNA:NM_007067, UniProtKB:O95251 No chr17 47865922 47906458 49788619 49829096 +PA38476 84148 HGNC:17933 ENSG00000103510 lysine acetyltransferase 8 KAT8 K(lysine) acetyltransferase 8 FLJ14040, MOF, MYST1, ZC2HC8, hMOF Yes No Comparative Toxicogenomics Database:84148, Ensembl:ENSG00000103510, GenAtlas:MYST1, GeneCard:MYST1, HGNC:HGNC:17933, HumanCyc Gene:HS02515, ModBase:Q9H7Z6, NCBI Gene:84148, OMIM:609912, RefSeq DNA:NT_010393, RefSeq Protein:NP_115564, RefSeq Protein:NP_892003, RefSeq RNA:NM_032188, RefSeq RNA:NM_182958, UCSC Genome Browser:NM_032188, UniProtKB:Q9H7Z6 No chr16 31128985 31142714 31117664 31131393 +PA30017 11104 HGNC:6216 ENSG00000186625 katanin catalytic subunit A1 KATNA1 katanin p60 (ATPase containing) subunit A 1 Yes No Comparative Toxicogenomics Database:11104, Ensembl:ENSG00000186625, GenAtlas:KATNA1, GeneCard:KATNA1, HGNC:HGNC:6216, HumanCyc Gene:HS03490, ModBase:O75449, NCBI Gene:11104, OMIM:606696, RefSeq DNA:NT_025741, RefSeq Protein:NP_001191005, RefSeq Protein:NP_008975, RefSeq RNA:NM_001204076, RefSeq RNA:NM_007044, UCSC Genome Browser:NM_007044, UniProtKB:O75449 No chr6 149916009 149970154 149594873 149649018 +PA134951885 84056 HGNC:28361 ENSG00000102781 katanin catalytic subunit A1 like 1 KATNAL1 katanin p60 subunit A-like 1 MGC2599 Yes No Ensembl:ENSG00000102781, GeneCard:KATNAL1, HGNC:HGNC:28361, HumanCyc Gene:HS02412, ModBase:Q9BW62, NCBI Gene:84056, RefSeq DNA:NT_024524, RefSeq Protein:NP_001014402, RefSeq Protein:NP_115492, RefSeq RNA:NM_001014380, RefSeq RNA:NM_032116, UniProtKB:B3KUK7, UniProtKB:Q9BW62 No chr13 30776767 30881624 30202626 30307500 +PA134921461 83473 HGNC:25387 ENSG00000167216 katanin catalytic subunit A1 like 2 KATNAL2 katanin p60 subunit A-like 2 DKFZP667C165, MGC33211 Yes No Ensembl:ENSG00000167216, GeneCard:KATNAL2, HGNC:HGNC:25387, NCBI Gene:83473, RefSeq DNA:NT_010966, RefSeq Protein:NP_112593, RefSeq RNA:NM_031303, UniProtKB:Q8IYT4 No chr18 44497565 44628614 46917602 47104795 +PA30018 10300 HGNC:6217 ENSG00000140854 katanin regulatory subunit B1 KATNB1 katanin p80 (WD repeat containing) subunit B 1 Yes No Comparative Toxicogenomics Database:10300, Ensembl:ENSG00000140854, GenAtlas:KATNB1, GeneCard:KATNB1, HGNC:HGNC:6217, HumanCyc Gene:HS06768, ModBase:Q9BVA0, NCBI Gene:10300, OMIM:602703, RefSeq DNA:NT_010498, RefSeq Protein:NP_005877, RefSeq RNA:NM_005886, UCSC Genome Browser:NM_005886, UniProtKB:Q9BVA0 No chr16 57769623 57791162 57735717 57757250 +PA134985944 79768 HGNC:26199 ENSG00000134152 katanin regulatory subunit B1 like 1 KATNBL1 katanin p80 subunit B-like 1 C15orf29, FLJ22557 Yes No Ensembl:ENSG00000134152, GeneCard:C15orf29, HGNC:HGNC:26199, HumanCyc Gene:HS13510, ModBase:Q9H079, NCBI Gene:79768, RefSeq DNA:NT_010194, RefSeq Protein:NP_078989, RefSeq RNA:NM_024713, UniProtKB:Q9H079 No chr15 34432875 34502297 34140674 34210146 +PA162392880 23247 HGNC:29068 katanin interacting protein KATNIP JBTS26, KATNIP, KIAA0556 Yes No GeneCard:KIAA0556, HGNC:HGNC:29068, ModBase:O60303, NCBI Gene:23247, RefSeq DNA:NT_010393, RefSeq Protein:NP_056017, RefSeq RNA:NM_015202, UniProtKB:O60303 No chr16 27561441 27791692 27550128 27780371 +PA134953983 81621 HGNC:25460 ENSG00000107821 Kazal type serine peptidase inhibitor domain 1 KAZALD1 Kazal-type serine peptidase inhibitor domain 1 FKSG28, FKSG40 Yes No Comparative Toxicogenomics Database:81621, Ensembl:ENSG00000107821, GeneCard:KAZALD1, HGNC:HGNC:25460, HumanCyc Gene:HS03032, ModBase:Q96I82, NCBI Gene:81621, OMIM:609208, RefSeq DNA:NT_030059, RefSeq Protein:NP_112191, RefSeq RNA:NM_030929, UniProtKB:Q96I82 No chr10 102820999 102827888 101061141 101068141 +PA166048988 23254 HGNC:29173 ENSG00000189337 kazrin, periplakin interacting protein KAZN C1orf196, FLJ43806, KAZRIN, KIAA1026 Yes No Ensembl:ENSG00000189337, HGNC:HGNC:29173, NCBI Gene:23254 No chr1 14219646 15444544 13893387 15118048 +PA142671642 9920 HGNC:29104 ENSG00000176595 kelch repeat and BTB domain containing 11 KBTBD11 kelch repeat and BTB (POZ) domain containing 11 KIAA0711, KLHDC7C Yes No Comparative Toxicogenomics Database:9920, Ensembl:ENSG00000176595, GeneCard:KBTBD11, HGNC:HGNC:29104, HumanCyc Gene:HS11062, ModBase:O94819, NCBI Gene:9920, RefSeq DNA:NT_023736, RefSeq Protein:NP_055682, RefSeq RNA:NM_014867, UniProtKB:O94819 No chr8 1921949 1955109 1970718 2006943 +PA165697420 166348 HGNC:25731 ENSG00000187715 kelch repeat and BTB domain containing 12 KBTBD12 kelch repeat and BTB (POZ) domain containing 12 FLJ46299, KLHDC6 Yes No Ensembl:ENSG00000187715, GeneCard:KBTBD12, HGNC:HGNC:25731, ModBase:Q3ZCT8, NCBI Gene:166348, RefSeq DNA:NT_005612, RefSeq Protein:NP_997218, RefSeq RNA:NM_207335, UniProtKB:Q3ZCT8 No chr3 127634075 127706514 127915232 127987858 +PA165479144 390594 HGNC:37227 ENSG00000234438 kelch repeat and BTB domain containing 13 KBTBD13 kelch repeat and BTB (POZ) domain containing 13, nemaline myopathy type 6 NEM6, hCG_1645727 Yes No Ensembl:ENSG00000234438, GeneCard:KBTBD13, HGNC:HGNC:37227, NCBI Gene:390594, RefSeq DNA:NG_021411, RefSeq DNA:NT_010194, RefSeq Protein:NP_001094832, RefSeq RNA:NM_001101362, UniProtKB:C9JR72 No chr15 65369154 65372276 65076816 65079938 +PA134892896 25948 HGNC:21751 ENSG00000170852 kelch repeat and BTB domain containing 2 KBTBD2 kelch repeat and BTB (POZ) domain containing 2 BKLHD1, DKFZP566C134 Yes No Comparative Toxicogenomics Database:25948, Ensembl:ENSG00000170852, GeneCard:KBTBD2, HGNC:HGNC:21751, ModBase:Q8IY47, NCBI Gene:25948, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_056298, RefSeq RNA:NM_015483, UniProtKB:Q8IY47 No chr7 32907778 32931468 32868166 32892144 +PA134920598 143879 HGNC:22934 ENSG00000182359 kelch repeat and BTB domain containing 3 KBTBD3 kelch repeat and BTB (POZ) domain containing 3 BKLHD3 Yes No Ensembl:ENSG00000182359, GeneCard:KBTBD3, HGNC:HGNC:22934, ModBase:Q8NAB2, NCBI Gene:143879, RefSeq DNA:NT_033899, RefSeq Protein:NP_689646, RefSeq Protein:NP_940841, RefSeq RNA:NM_152433, RefSeq RNA:NM_198439, UniProtKB:A8K1K0, UniProtKB:Q8NAB2 No chr11 105921825 105948465 106046801 106077765 +PA134883813 55709 HGNC:23761 ENSG00000123444 kelch repeat and BTB domain containing 4 KBTBD4 kelch repeat and BTB (POZ) domain containing 4 BKLHD4, FLJ10450, HSPC252 Yes No Comparative Toxicogenomics Database:55709, Ensembl:ENSG00000123444, GeneCard:KBTBD4, HGNC:HGNC:23761, HumanCyc Gene:HS04661, ModBase:Q9NVX7, NCBI Gene:55709, RefSeq DNA:NT_009237, RefSeq Protein:NP_057590, RefSeq Protein:NP_060565, RefSeq RNA:NM_016506, RefSeq RNA:NM_018095, RefSeq RNA:NR_024222, UniProtKB:Q9NVX7 No chr11 47593749 47600567 47572197 47579015 +PA134955690 89890 HGNC:25340 ENSG00000165572 kelch repeat and BTB domain containing 6 KBTBD6 kelch repeat and BTB (POZ) domain containing 6 DKFZp547E1912 Yes No Ensembl:ENSG00000165572, GeneCard:KBTBD6, HGNC:HGNC:25340, HumanCyc Gene:HS09250, ModBase:Q86V97, NCBI Gene:89890, RefSeq DNA:NT_024524, RefSeq Protein:NP_690867, RefSeq RNA:NM_152903, UniProtKB:Q86V97 No chr13 41701709 41706936 41127573 41132800 +PA134934036 84078 HGNC:25266 ENSG00000120696 kelch repeat and BTB domain containing 7 KBTBD7 kelch repeat and BTB (POZ) domain containing 7 DKFZP434E2318 Yes No Ensembl:ENSG00000120696, GeneCard:KBTBD7, HGNC:HGNC:25266, HumanCyc Gene:HS04423, ModBase:Q8WVZ9, NCBI Gene:84078, RefSeq DNA:NT_024524, RefSeq Protein:NP_115514, RefSeq RNA:NM_032138, UniProtKB:Q8WVZ9 No chr13 41765711 41768702 41191575 41194566 +PA142671641 84541 HGNC:30691 ENSG00000163376 kelch repeat and BTB domain containing 8 KBTBD8 T-cell activation kelch repeat protein, kelch repeat and BTB (POZ) domain containing 8 KIAA1842, TA-KRP Yes No Comparative Toxicogenomics Database:84541, Ensembl:ENSG00000163376, GeneCard:KBTBD8, HGNC:HGNC:30691, HumanCyc Gene:HS08837, NCBI Gene:84541, RefSeq DNA:NT_022459, RefSeq Protein:NP_115894, RefSeq RNA:NM_032505, UniProtKB:Q8NFY9 No chr3 67048727 67061634 66998303 67011210 +PA134967694 56888 HGNC:20589 ENSG00000176407 potassium channel modulatory factor 1 KCMF1 DEBT91, DKFZP434L1021, PCMF, ZZZ1 Yes No Comparative Toxicogenomics Database:56888, Ensembl:ENSG00000176407, GeneCard:KCMF1, HGNC:HGNC:20589, HumanCyc Gene:HS16652, ModBase:Q9P0J7, NCBI Gene:56888, RefSeq DNA:NT_022184, RefSeq Protein:NP_064507, RefSeq RNA:NM_020122, UniProtKB:Q9P0J7 No chr2 85198231 85286595 84971108 85059472 +PA30019 3736 HGNC:6218 ENSG00000111262 potassium voltage-gated channel subfamily A member 1 KCNA1 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) AEMK, HUK1, Kv1.1, MBK1, RBK1 Yes No Comparative Toxicogenomics Database:3736, Ensembl:ENSG00000111262, GenAtlas:KCNA1, GeneCard:KCNA1, HGNC:HGNC:6218, HumanCyc Gene:HS03391, IUPHAR Receptor:538, ModBase:Q09470, NCBI Gene:3736, OMIM:160120, OMIM:176260, RefSeq DNA:NG_011815, RefSeq DNA:NT_009759, RefSeq Protein:NP_000208, RefSeq RNA:NM_000217, UCSC Genome Browser:NM_000217, UniProtKB:Q09470 No chr12 5019073 5027422 4909907 4918256 +PA30020 3744 HGNC:6219 ENSG00000143105 potassium voltage-gated channel subfamily A member 10 KCNA10 potassium voltage-gated channel, shaker-related subfamily, member 10 Kv1.8 Yes No Ensembl:ENSG00000143105, GenAtlas:KCNA10, GeneCard:KCNA10, HGNC:HGNC:6219, HumanCyc Gene:HS06983, IUPHAR Receptor:545, ModBase:Q16322, NCBI Gene:3744, OMIM:602420, RefSeq DNA:NT_032977, RefSeq Protein:NP_005540, RefSeq RNA:NM_005549, UCSC Genome Browser:NM_005549, UniProtKB:Q16322 No chr1 111059839 111061797 110517217 110519175 +PA206 3737 HGNC:6220 ENSG00000177301 potassium voltage-gated channel subfamily A member 2 KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2 HK4, Kv1.2 Yes No Comparative Toxicogenomics Database:3737, Ensembl:ENSG00000177301, GenAtlas:KCNA2, GeneCard:KCNA2, HGNC:HGNC:6220, HumanCyc Gene:HS11153, IUPHAR Receptor:539, ModBase:P16389, NCBI Gene:3737, OMIM:176262, RefSeq DNA:NT_032977, RefSeq Protein:NP_001191198, RefSeq Protein:NP_004965, RefSeq RNA:NM_001204269, RefSeq RNA:NM_004974, UCSC Genome Browser:NM_004974, UniProtKB:P16389 No chr1 111136202 111174096 110593580 110631536 +PA30021 3738 HGNC:6221 ENSG00000177272 potassium voltage-gated channel subfamily A member 3 KCNA3 potassium voltage-gated channel, shaker-related subfamily, member 3 HLK3, HPCN3, Kv1.3, MK3, RP11-284N8.3 Yes Yes Ensembl:ENSG00000177272, GenAtlas:KCNA3, GeneCard:KCNA3, HGNC:HGNC:6221, HumanCyc Gene:HS11147, IUPHAR Receptor:540, ModBase:P22001, NCBI Gene:3738, OMIM:176263, RefSeq DNA:NT_032977, RefSeq Protein:NP_002223, RefSeq RNA:NM_002232, UCSC Genome Browser:NM_002232, UniProtKB:P22001, UniProtKB:Q6P2D3 No chr1 111196182 111217655 110653560 110675033 +PA207 3739 HGNC:6222 ENSG00000182255 potassium voltage-gated channel subfamily A member 4 KCNA4 potassium voltage-gated channel, shaker-related subfamily, member 4 HK1, HPCN2, KCNA4L, Kv1.4, PCN2 Yes No Ensembl:ENSG00000182255, GenAtlas:KCNA4, GeneCard:KCNA4, HGNC:HGNC:6222, IUPHAR Receptor:541, ModBase:P22459, NCBI Gene:3739, OMIM:176266, RefSeq DNA:NT_009237, RefSeq Protein:NP_002224, RefSeq RNA:NM_002233, UCSC Genome Browser:NM_002233, UniProtKB:P22459 No chr11 30031288 30038577 30009741 30017030 +PA208 3741 HGNC:6224 ENSG00000130037 potassium voltage-gated channel subfamily A member 5 KCNA5 potassium voltage-gated channel, shaker-related subfamily, member 5 HK2, HPCN1, Kv1.5 Yes No Comparative Toxicogenomics Database:3741, Ensembl:ENSG00000130037, GeneCard:KCNA5, HGNC:HGNC:6224, HumanCyc Gene:HS05333, IUPHAR Receptor:542, ModBase:P22460, NCBI Gene:3741, OMIM:176267, OMIM:612240, RefSeq DNA:NG_012198, RefSeq DNA:NT_009759, RefSeq Protein:NP_002225, RefSeq RNA:NM_002234, UniProtKB:P22460 No chr12 5153085 5155954 5043919 5046788 +PA30022 3742 HGNC:6225 ENSG00000151079 potassium voltage-gated channel subfamily A member 6 KCNA6 """potassium voltage-gated channel, shaker-related subfamily, member 6"", ""protein phosphatase 1, regulatory subunit 96""" HBK2, Kv1.6, PPP1R96 Yes No Ensembl:ENSG00000151079, GenAtlas:KCNA6, GeneCard:KCNA6, HGNC:HGNC:6225, HumanCyc Gene:HS07705, IUPHAR Receptor:543, ModBase:P17658, NCBI Gene:3742, OMIM:176257, RefSeq DNA:NT_009759, RefSeq Protein:NP_002226, RefSeq RNA:NM_002235, UCSC Genome Browser:NM_002235, UniProtKB:P17658 No chr12 4918342 4961093 4806877 4851927 +PA30023 3743 HGNC:6226 ENSG00000104848 potassium voltage-gated channel subfamily A member 7 KCNA7 potassium voltage-gated channel, shaker-related subfamily, member 7 HAK6, Kv1.7 Yes No Comparative Toxicogenomics Database:3743, Ensembl:ENSG00000104848, GenAtlas:KCNA7, GeneCard:KCNA7, HGNC:HGNC:6226, HumanCyc Gene:HS02632, IUPHAR Receptor:544, ModBase:Q96RP8, NCBI Gene:3743, OMIM:176268, RefSeq DNA:NT_011109, RefSeq Protein:NP_114092, RefSeq RNA:NM_031886, UCSC Genome Browser:NM_031886, UniProtKB:Q96RP8 No chr19 49570675 49576198 49067418 49072941 +PA370 7881 HGNC:6228 ENSG00000169282 potassium voltage-gated channel subfamily A regulatory beta subunit 1 KCNAB1 """K+ channel Beta1a chain"", ""potassium voltage-gated channel subfamily A member regulatory beta subunit 1"", ""potassium voltage-gated channel, shaker-related subfamily, beta member 1""" AKR6A3, KCNA1B, Kvb1.3, hKvBeta3, hKvb3 Yes Yes Ensembl:ENSG00000169282, GenAtlas:KCNAB1, GeneCard:KCNAB1, HGNC:HGNC:6228, HumanCyc Gene:HS09920, ModBase:Q14722, NCBI Gene:7881, OMIM:601141, RefSeq DNA:NT_005612, RefSeq Protein:NP_003462, RefSeq Protein:NP_751891, RefSeq Protein:NP_751892, RefSeq RNA:NM_003471, RefSeq RNA:NM_172159, RefSeq RNA:NM_172160, UCSC Genome Browser:NM_003471, UniProtKB:A6NP06, UniProtKB:Q14722 No chr3 155838337 156256927 156118211 156540603 +PA373 8514 HGNC:6229 ENSG00000069424 potassium voltage-gated channel subfamily A regulatory beta subunit 2 KCNAB2 potassium voltage-gated channel, shaker-related subfamily, beta member 2 AKR6A5, HKvbeta2.1, HKvbeta2.2, KCNA2B Yes No Comparative Toxicogenomics Database:8514, Ensembl:ENSG00000069424, GenAtlas:KCNAB2, GeneCard:KCNAB2, HGNC:HGNC:6229, HumanCyc Gene:HS00962, ModBase:Q13303, NCBI Gene:8514, OMIM:601142, RefSeq DNA:NT_021937, RefSeq Protein:NP_001186789, RefSeq Protein:NP_001186790, RefSeq Protein:NP_001186791, RefSeq Protein:NP_001186792, RefSeq Protein:NP_003627, RefSeq Protein:NP_742128, RefSeq RNA:NM_001199860, RefSeq RNA:NM_001199861, RefSeq RNA:NM_001199862, RefSeq RNA:NM_001199863, RefSeq RNA:NM_003636, RefSeq RNA:NM_172130, UCSC Genome Browser:NM_003636, UniProtKB:Q13303 No chr1 6052358 6161253 5992298 6101193 +PA30024 9196 HGNC:6230 ENSG00000170049 potassium voltage-gated channel subfamily A regulatory beta subunit 3 KCNAB3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 AKR6A9, KCNA3B Yes No Ensembl:ENSG00000170049, GenAtlas:KCNAB3, GeneCard:KCNAB3, HGNC:HGNC:6230, HumanCyc Gene:HS10062, ModBase:O43448, NCBI Gene:9196, OMIM:604111, RefSeq DNA:NT_010718, RefSeq Protein:NP_004723, RefSeq RNA:NM_004732, UCSC Genome Browser:NM_004732, UniProtKB:O43448 No chr17 7825177 7833180 7921859 7929435 +PA209 3745 HGNC:6231 ENSG00000158445 potassium voltage-gated channel subfamily B member 1 KCNB1 potassium voltage-gated channel, Shab-related subfamily, member 1 Kv2.1 Yes No Comparative Toxicogenomics Database:3745, Ensembl:ENSG00000158445, GenAtlas:KCNB1, GeneCard:KCNB1, HGNC:HGNC:6231, HumanCyc Gene:HS08291, IUPHAR Receptor:546, ModBase:Q14721, NCBI Gene:3745, OMIM:600397, RefSeq DNA:NT_011362, RefSeq Protein:NP_004966, RefSeq RNA:NM_004975, UCSC Genome Browser:NM_004975, UniProtKB:Q14721 No chr20 47988505 48099181 49363877 49484033 +PA30025 9312 HGNC:6232 ENSG00000182674 potassium voltage-gated channel subfamily B member 2 KCNB2 potassium voltage-gated channel, Shab-related subfamily, member 2 Kv2.2 Yes No Comparative Toxicogenomics Database:9312, Ensembl:ENSG00000182674, GenAtlas:KCNB2, GeneCard:KCNB2, HGNC:HGNC:6232, IUPHAR Receptor:547, ModBase:Q92953, NCBI Gene:9312, OMIM:607738, RefSeq DNA:NT_008183, RefSeq Protein:NP_004761, RefSeq RNA:NM_004770, UCSC Genome Browser:NM_004770, UniProtKB:Q92953 No chr8 73449626 73850584 72537391 72945890 +PA30026 3746 HGNC:6233 ENSG00000129159 potassium voltage-gated channel subfamily C member 1 KCNC1 potassium voltage-gated channel, Shaw-related subfamily, member 1 Kv3.1 Yes No Comparative Toxicogenomics Database:3746, Ensembl:ENSG00000129159, GenAtlas:KCNC1, GeneCard:KCNC1, HGNC:HGNC:6233, HumanCyc Gene:HS05249, IUPHAR Receptor:548, ModBase:P48547, NCBI Gene:3746, OMIM:176258, RefSeq DNA:NT_009237, RefSeq Protein:NP_001106212, RefSeq Protein:NP_004967, RefSeq RNA:NM_001112741, RefSeq RNA:NM_004976, UCSC Genome Browser:NM_004976, UniProtKB:C9J774, UniProtKB:P48547, UniProtKB:Q3KNS8 No chr11 17757495 17804602 17734810 17783055 +PA35490 3747 HGNC:6234 ENSG00000166006 potassium voltage-gated channel subfamily C member 2 KCNC2 potassium voltage-gated channel, Shaw-related subfamily, member 2 Kv3.2 Yes No Comparative Toxicogenomics Database:3747, Ensembl:ENSG00000166006, GenAtlas:KCNC2, GeneCard:KCNC2, HGNC:HGNC:6234, HumanCyc Gene:HS09319, IUPHAR Receptor:549, ModBase:Q96PR1, NCBI Gene:3747, OMIM:176256, RefSeq DNA:NT_029419, RefSeq Protein:NP_631874, RefSeq Protein:NP_631875, RefSeq Protein:NP_715624, RefSeq RNA:NM_139136, RefSeq RNA:NM_139137, RefSeq RNA:NM_153748, UCSC Genome Browser:NM_139136, UniProtKB:Q96PR1 No chr12 75433858 75603584 75040078 75209815 +PA30027 3748 HGNC:6235 ENSG00000131398 potassium voltage-gated channel subfamily C member 3 KCNC3 potassium voltage-gated channel, Shaw-related subfamily, member 3 Kv3.3, SCA13 Yes No Comparative Toxicogenomics Database:3748, Ensembl:ENSG00000131398, GenAtlas:KCNC3, GeneCard:KCNC3, HGNC:HGNC:6235, HumanCyc Gene:HS05521, IUPHAR Receptor:550, ModBase:Q14003, NCBI Gene:3748, OMIM:176264, OMIM:605259, RefSeq DNA:NG_008134, RefSeq DNA:NT_011109, RefSeq Protein:NP_004968, RefSeq RNA:NM_004977, UCSC Genome Browser:NM_004977, UniProtKB:Q14003 No chr19 50818765 50832634 50311942 50333515 +PA30028 3749 HGNC:6236 ENSG00000116396 potassium voltage-gated channel subfamily C member 4 KCNC4 potassium voltage-gated channel, Shaw-related subfamily, member 4 C1orf30, HKSHIIIC, Kv3.4 Yes No Ensembl:ENSG00000116396, GenAtlas:KCNC4, GeneCard:KCNC4, HGNC:HGNC:6236, HumanCyc Gene:HS04011, IUPHAR Receptor:551, ModBase:Q03721, NCBI Gene:3749, OMIM:176265, RefSeq DNA:NT_032977, RefSeq Protein:NP_001034663, RefSeq Protein:NP_004969, RefSeq Protein:NP_720198, RefSeq RNA:NM_001039574, RefSeq RNA:NM_004978, RefSeq RNA:NM_153763, RefSeq RNA:NR_036437, UCSC Genome Browser:NM_004978, UniProtKB:Q03721 No chr1 110753336 110776674 110210714 110282649 +PA30029 3750 HGNC:6237 ENSG00000102057 potassium voltage-gated channel subfamily D member 1 KCND1 potassium voltage-gated channel, Shal-related subfamily, member 1 Kv4.1 Yes No Ensembl:ENSG00000102057, GenAtlas:KCND1, GeneCard:KCND1, HGNC:HGNC:6237, HumanCyc Gene:HS02344, IUPHAR Receptor:552, ModBase:Q9NSA2, NCBI Gene:3750, OMIM:300281, RefSeq DNA:NG_012515, RefSeq DNA:NT_079573, RefSeq Protein:NP_004970, RefSeq RNA:NM_004979, UCSC Genome Browser:NM_004979, UniProtKB:Q9NSA2 No chrX 48818639 48828251 48960983 48972099 +PA30030 3751 HGNC:6238 ENSG00000184408 potassium voltage-gated channel subfamily D member 2 KCND2 potassium voltage-gated channel, Shal-related subfamily, member 2 KIAA1044, Kv4.2, RK5 Yes No Comparative Toxicogenomics Database:3751, Ensembl:ENSG00000184408, GenAtlas:KCND2, GeneCard:KCND2, HGNC:HGNC:6238, IUPHAR Receptor:553, ModBase:Q9NZV8, NCBI Gene:3751, OMIM:605410, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_036413, RefSeq RNA:NM_012281, UCSC Genome Browser:NM_012281, UniProtKB:A4D0V9, UniProtKB:Q9NZV8 No chr7 119913689 120390387 120273635 120750333 +PA210 3752 HGNC:6239 ENSG00000171385 potassium voltage-gated channel subfamily D member 3 KCND3 potassium voltage-gated channel, Shal-related subfamily, member 3 KSHIVB, Kv4.3, SCA19, SCA22 Yes No Comparative Toxicogenomics Database:3752, Ensembl:ENSG00000171385, GenAtlas:KCND3, GeneCard:KCND3, HGNC:HGNC:6239, HumanCyc Gene:HS10295, IUPHAR Receptor:554, ModBase:Q9UK17, NCBI Gene:3752, OMIM:605411, RefSeq DNA:NT_032977, RefSeq Protein:NP_004971, RefSeq Protein:NP_751948, RefSeq RNA:NM_004980, RefSeq RNA:NM_172198, UCSC Genome Browser:NM_004980, UniProtKB:Q14D71, UniProtKB:Q9UK17 No chr1 112318444 112532147 111770662 111989577 +PA211 3753 HGNC:6240 ENSG00000180509 potassium voltage-gated channel subfamily E regulatory subunit 1 KCNE1 """Jervell and Lange-Nielsen syndrome 2"", ""Long QT syndrome 5"", ""potassium voltage-gated channel, Isk-related family, member 1""" ISK, JLNS2, LQT5, minK Yes Yes Comparative Toxicogenomics Database:3753, Ensembl:ENSG00000180509, GenAtlas:KCNE1, GeneCard:KCNE1, HGNC:HGNC:6240, HumanCyc Gene:HS11502, NCBI Gene:3753, OMIM:176261, OMIM:220400, OMIM:612347, RefSeq DNA:NG_009091, RefSeq DNA:NT_011512, RefSeq Protein:NP_000210, RefSeq Protein:NP_001121140, RefSeq Protein:NP_001121141, RefSeq Protein:NP_001121142, RefSeq RNA:NM_000219, RefSeq RNA:NM_001127668, RefSeq RNA:NM_001127669, RefSeq RNA:NM_001127670, UCSC Genome Browser:NM_000219, UniProtKB:C7S316, UniProtKB:P15382, UniProtKB:Q6FHJ6 No chr21 35790910 35884573 34446688 34512275 +PA166351928 HGNC:52280 potassium voltage-gated channel subfamily E regulatory subunit 1B KCNE1B Yes No HGNC:HGNC:52280 No 0 0 0 0 +PA392 9992 HGNC:6242 ENSG00000159197 potassium voltage-gated channel subfamily E regulatory subunit 2 KCNE2 potassium voltage-gated channel, Isk-related family, member 2 LQT6, MiRP1 Yes Yes Comparative Toxicogenomics Database:9992, Ensembl:ENSG00000159197, GenAtlas:KCNE2, GeneCard:KCNE2, HGNC:HGNC:6242, HumanCyc Gene:HS08370, NCBI Gene:9992, OMIM:603796, OMIM:607554, OMIM:611493, RefSeq DNA:NG_008804, RefSeq DNA:NT_011512, RefSeq Protein:NP_751951, RefSeq RNA:NM_172201, UCSC Genome Browser:NM_005136, UCSC Genome Browser:NM_172201, UniProtKB:Q9Y6J6 No chr21 35736323 35743440 34364024 34371141 +PA393 10008 HGNC:6243 ENSG00000175538 potassium voltage-gated channel subfamily E regulatory subunit 3 KCNE3 potassium voltage-gated channel, Isk-related family, member 3 HOKPP, MiRP2 Yes No Comparative Toxicogenomics Database:10008, Ensembl:ENSG00000175538, GenAtlas:KCNE3, GeneCard:KCNE3, HGNC:HGNC:6243, HumanCyc Gene:HS10948, NCBI Gene:10008, OMIM:170400, OMIM:170500, OMIM:604433, OMIM:613119, RefSeq DNA:NG_011833, RefSeq DNA:NT_167190, RefSeq Protein:NP_005463, RefSeq RNA:NM_005472, UCSC Genome Browser:NM_005472, UniProtKB:Q6IAE6, UniProtKB:Q9Y6H6 No chr11 74165886 74178600 74454841 74467729 +PA30032 23704 HGNC:6244 ENSG00000152049 potassium voltage-gated channel subfamily E regulatory subunit 4 KCNE4 potassium voltage-gated channel, Isk-related family, member 4 MiRP3 Yes No Comparative Toxicogenomics Database:23704, Ensembl:ENSG00000152049, GenAtlas:KCNE4, GeneCard:KCNE4, HGNC:HGNC:6244, HumanCyc Gene:HS07787, NCBI Gene:23704, OMIM:607775, RefSeq DNA:NT_005403, RefSeq Protein:NP_542402, RefSeq RNA:NM_080671, UCSC Genome Browser:NM_080671, UniProtKB:A5H1P5, UniProtKB:Q8WWG9 No chr2 223916648 223920355 223051930 223055637 +PA30031 23630 HGNC:6241 ENSG00000176076 potassium voltage-gated channel subfamily E regulatory subunit 5 KCNE5 KCNE1-like KCNE1L Yes No Ensembl:ENSG00000176076, GenAtlas:KCNE1L, GeneCard:KCNE1L, HGNC:HGNC:6241, HumanCyc Gene:HS10994, NCBI Gene:23630, OMIM:300328, RefSeq DNA:NG_013241, RefSeq DNA:NT_011651, RefSeq Protein:NP_036414, RefSeq RNA:NM_012282, UCSC Genome Browser:NM_012282, UniProtKB:Q5JWV7, UniProtKB:Q9UJ90 No chrX 108866929 108868393 109623700 109625164 +PA30033 3754 HGNC:6246 ENSG00000162975 potassium voltage-gated channel modifier subfamily F member 1 KCNF1 potassium voltage-gated channel, subfamily F, member 1 IK8, KCNF, Kv5.1, kH1 Yes No Ensembl:ENSG00000162975, GenAtlas:KCNF1, GeneCard:KCNF1, HGNC:HGNC:6246, HumanCyc Gene:HS08766, IUPHAR Receptor:555, ModBase:Q9H3M0, NCBI Gene:3754, OMIM:603787, RefSeq DNA:NT_005334, RefSeq Protein:NP_002227, RefSeq RNA:NM_002236, UCSC Genome Browser:NM_002236, UniProtKB:Q9H3M0 No chr2 11052063 11054351 10911937 10914225 +PA30034 3755 HGNC:6248 ENSG00000026559 potassium voltage-gated channel modifier subfamily G member 1 KCNG1 potassium voltage-gated channel, subfamily G, member 1 K13, KCNG, Kv6.1, kH2 Yes No Comparative Toxicogenomics Database:3755, Ensembl:ENSG00000026559, GenAtlas:KCNG1, GeneCard:KCNG1, HGNC:HGNC:6248, HumanCyc Gene:HS00451, IUPHAR Receptor:556, ModBase:Q9UIX4, NCBI Gene:3755, OMIM:603788, RefSeq DNA:NT_011362, RefSeq Protein:NP_002228, RefSeq RNA:NM_002237, UCSC Genome Browser:NM_002237, UniProtKB:Q86Y85, UniProtKB:Q9UIX4 No chr20 49620193 49639675 51003656 51023176 +PA30035 26251 HGNC:6249 ENSG00000178342 potassium voltage-gated channel modifier subfamily G member 2 KCNG2 potassium voltage-gated channel, subfamily G, member 2 KCNF2, Kv6.2 Yes No Ensembl:ENSG00000178342, GenAtlas:KCNG2, GeneCard:KCNG2, HGNC:HGNC:6249, HumanCyc Gene:HS11279, IUPHAR Receptor:557, ModBase:Q9UJ96, NCBI Gene:26251, OMIM:605696, RefSeq DNA:NT_025028, RefSeq Protein:NP_036415, RefSeq RNA:NM_012283, UCSC Genome Browser:NM_012283, UniProtKB:Q9UJ96 No chr18 77623668 77659816 79797963 79901894 +PA30036 170850 HGNC:18306 ENSG00000171126 potassium voltage-gated channel modifier subfamily G member 3 KCNG3 potassium voltage-gated channel, subfamily G, member 3 Kv6.3 Yes No Ensembl:ENSG00000171126, GenAtlas:KCNG3, GeneCard:KCNG3, HGNC:HGNC:18306, HumanCyc Gene:HS10250, IUPHAR Receptor:558, ModBase:Q8TAE7, NCBI Gene:170850, OMIM:606767, RefSeq DNA:NT_022184, RefSeq Protein:NP_579875, RefSeq Protein:NP_758847, RefSeq RNA:NM_133329, RefSeq RNA:NM_172344, UCSC Genome Browser:NM_133329, UniProtKB:Q8TAE7 No chr2 42669157 42721237 42442017 42494097 +PA134989953 93107 HGNC:19697 ENSG00000168418 potassium voltage-gated channel modifier subfamily G member 4 KCNG4 potassium voltage-gated channel, subfamily G, member 4 Kv6.4 Yes No Ensembl:ENSG00000168418, GeneCard:KCNG4, HGNC:HGNC:19697, HumanCyc Gene:HS09754, IUPHAR Receptor:559, ModBase:Q8TDN1, NCBI Gene:93107, OMIM:607603, RefSeq DNA:NT_010498, RefSeq Protein:NP_758857, RefSeq RNA:NM_172347, UniProtKB:Q547S7, UniProtKB:Q8TDN1 No chr16 84254741 84273356 84221135 84239750 +PA30037 3756 HGNC:6250 ENSG00000143473 potassium voltage-gated channel subfamily H member 1 KCNH1 """ether-a-go-go 1"", ""potassium voltage-gated channel, subfamily H (eag-related), member 1""" K(V)10.1, Kv10.1, eag, eag1, h-eag, hEAG Yes No Comparative Toxicogenomics Database:3756, Ensembl:ENSG00000143473, GenAtlas:KCNH1, GeneCard:KCNH1, HGNC:HGNC:6250, HumanCyc Gene:HS07062, IUPHAR Receptor:570, ModBase:O95259, NCBI Gene:3756, OMIM:603305, RefSeq DNA:NT_167186, RefSeq Protein:NP_002229, RefSeq Protein:NP_758872, RefSeq RNA:NM_002238, RefSeq RNA:NM_172362, UCSC Genome Browser:NM_002238, UniProtKB:O95259, UniProtKB:Q14CL3 No chr1 210851657 211307457 210678314 211134115 +PA212 3757 HGNC:6251 ENSG00000055118 potassium voltage-gated channel subfamily H member 2 KCNH2 """human ether-a-go-go-related gene"", ""long QT syndrome type 2"", ""potassium voltage-gated channel, subfamily H (eag-related), member 2""" HERG, Kv11.1, LQT2, erg1 Yes Yes Comparative Toxicogenomics Database:3757, Ensembl:ENSG00000055118, GenAtlas:KCNH2, GeneCard:KCNH2, HGNC:HGNC:6251, HumanCyc Gene:HS00680, IUPHAR Receptor:572, ModBase:Q12809, NCBI Gene:3757, OMIM:152427, OMIM:609620, RefSeq DNA:NG_008916, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_000229, RefSeq Protein:NP_001191727, RefSeq Protein:NP_742053, RefSeq Protein:NP_742054, RefSeq RNA:NM_000238, RefSeq RNA:NM_001204798, RefSeq RNA:NM_172056, RefSeq RNA:NM_172057, UCSC Genome Browser:NM_000238, UniProtKB:Q12809 No chr7 150642044 150675402 150944956 150978314 +PA30038 23416 HGNC:6252 ENSG00000135519 potassium voltage-gated channel subfamily H member 3 KCNH3 potassium voltage-gated channel, subfamily H (eag-related), member 3 BEC1, Kv12.2, elk2 Yes No Ensembl:ENSG00000135519, GenAtlas:KCNH3, GeneCard:KCNH3, HGNC:HGNC:6252, HumanCyc Gene:HS06024, IUPHAR Receptor:576, ModBase:Q9ULD8, NCBI Gene:23416, OMIM:604527, RefSeq DNA:NT_029419, RefSeq Protein:NP_036416, RefSeq RNA:NM_012284, UniProtKB:Q9ULD8 No chr12 49932834 49952091 49538541 49558312 +PA30039 23415 HGNC:6253 ENSG00000089558 potassium voltage-gated channel subfamily H member 4 KCNH4 potassium voltage-gated channel, subfamily H (eag-related), member 4 Kv12.3, elk1 Yes No Ensembl:ENSG00000089558, GenAtlas:KCNH4, GeneCard:KCNH4, HGNC:HGNC:6253, HumanCyc Gene:HS01657, IUPHAR Receptor:577, ModBase:Q9UQ05, NCBI Gene:23415, OMIM:604528, RefSeq DNA:NT_010783, RefSeq Protein:NP_036417, RefSeq RNA:NM_012285, UCSC Genome Browser:NM_012285, UniProtKB:Q9UQ05 No chr17 40308910 40333296 42156892 42181278 +PA30040 27133 HGNC:6254 ENSG00000140015 potassium voltage-gated channel subfamily H member 5 KCNH5 """ether-a-go-go 2"", ""potassium voltage-gated channel, subfamily H (eag-related), member 5""" H-EAG2, Kv10.2, eag2, hEAG2 Yes No Comparative Toxicogenomics Database:27133, Ensembl:ENSG00000140015, GenAtlas:KCNH5, GeneCard:KCNH5, HGNC:HGNC:6254, HumanCyc Gene:HS06676, IUPHAR Receptor:571, ModBase:Q8NCM2, NCBI Gene:27133, OMIM:605716, RefSeq DNA:NT_026437, RefSeq Protein:NP_647479, RefSeq Protein:NP_758963, RefSeq Protein:NP_758964, RefSeq RNA:NM_139318, RefSeq RNA:NM_172375, RefSeq RNA:NM_172376, UCSC Genome Browser:NM_139318, UniProtKB:Q8NCM2 No chr14 63173291 63511956 62706573 63045238 +PA38722 81033 HGNC:18862 ENSG00000173826 potassium voltage-gated channel subfamily H member 6 KCNH6 potassium voltage-gated channel, subfamily H (eag-related), member 6 HERG2, Kv11.2, erg2 Yes No Comparative Toxicogenomics Database:81033, Ensembl:ENSG00000173826, GenAtlas:KCNH6, GeneCard:KCNH6, HGNC:HGNC:18862, HumanCyc Gene:HS10736, IUPHAR Receptor:573, ModBase:Q9H252, NCBI Gene:81033, OMIM:608168, RefSeq DNA:NT_010783, RefSeq Protein:NP_110406, RefSeq Protein:NP_775115, RefSeq RNA:NM_030779, RefSeq RNA:NM_173092, UCSC Genome Browser:NM_030779, UniProtKB:Q9H252 No chr17 61600695 61626338 63523334 63548977 +PA38723 90134 HGNC:18863 ENSG00000184611 potassium voltage-gated channel subfamily H member 7 KCNH7 potassium voltage-gated channel, subfamily H (eag-related), member 7 HERG3, Kv11.3, erg3 Yes Yes Comparative Toxicogenomics Database:90134, Ensembl:ENSG00000184611, GenAtlas:KCNH7, GeneCard:KCNH7, HGNC:HGNC:18863, IUPHAR Receptor:574, ModBase:Q9NS40, NCBI Gene:90134, OMIM:608169, RefSeq DNA:NT_005403, RefSeq Protein:NP_150375, RefSeq Protein:NP_775185, RefSeq RNA:NM_033272, RefSeq RNA:NM_173162, UCSC Genome Browser:NM_033272, UniProtKB:Q9NS40 No chr2 163227917 163695257 162371407 162838747 +PA38724 131096 HGNC:18864 ENSG00000183960 potassium voltage-gated channel subfamily H member 8 KCNH8 potassium voltage-gated channel, subfamily H (eag-related), member 8 Kv12.1, elk3 Yes No Ensembl:ENSG00000183960, GenAtlas:KCNH8, GeneCard:KCNH8, HGNC:HGNC:18864, IUPHAR Receptor:575, ModBase:Q96L42, NCBI Gene:131096, OMIM:608260, RefSeq DNA:NT_022517, RefSeq Protein:NP_653234, RefSeq RNA:NM_144633, UCSC Genome Browser:NM_144633, UniProtKB:Q96L42 No chr3 19189946 19577135 19148454 19535643 +PA30041 30820 HGNC:15521 ENSG00000182132 potassium voltage-gated channel interacting protein 1 KCNIP1 Kv channel interacting protein 1 KCHIP1 Yes Yes Ensembl:ENSG00000182132, GenAtlas:KCNIP1, GeneCard:KCNIP1, HGNC:HGNC:15521, ModBase:Q9NZI2, NCBI Gene:30820, OMIM:604660, RefSeq DNA:NG_011538, RefSeq DNA:NT_023133, RefSeq Protein:NP_001030009, RefSeq Protein:NP_001030010, RefSeq Protein:NP_055407, RefSeq RNA:NM_001034837, RefSeq RNA:NM_001034838, RefSeq RNA:NM_014592, UCSC Genome Browser:NM_014592, UniProtKB:Q3YAD1, UniProtKB:Q3YAD2, UniProtKB:Q3YAD3, UniProtKB:Q9NZI2 No chr5 169780491 170163636 170353055 170736632 +PA30042 30819 HGNC:15522 ENSG00000120049 potassium voltage-gated channel interacting protein 2 KCNIP2 Kv channel interacting protein 2 KCHIP2 Yes No Ensembl:ENSG00000120049, GenAtlas:KCNIP2, GeneCard:KCNIP2, HGNC:HGNC:15522, HumanCyc Gene:HS04360, ModBase:Q9HD10, NCBI Gene:30819, OMIM:604661, RefSeq DNA:NT_030059, RefSeq Protein:NP_055406, RefSeq Protein:NP_775283, RefSeq Protein:NP_775284, RefSeq Protein:NP_775285, RefSeq Protein:NP_775286, RefSeq Protein:NP_775287, RefSeq Protein:NP_775289, RefSeq RNA:NM_014591, RefSeq RNA:NM_173191, RefSeq RNA:NM_173192, RefSeq RNA:NM_173193, RefSeq RNA:NM_173194, RefSeq RNA:NM_173195, RefSeq RNA:NM_173197, UCSC Genome Browser:NM_014591, UniProtKB:Q3YAC6, UniProtKB:Q3YAC8, UniProtKB:Q3YAC9, UniProtKB:Q9NS61 No chr10 103585731 103603769 101825971 101843920 +PA26934 30818 HGNC:15523 ENSG00000115041 potassium voltage-gated channel interacting protein 3 KCNIP3 """DRE-antagonist modulator"", ""Kv channel interacting protein 3, calsenilin""" CSEN, DREAM, KCHIP3, calsenilin Yes No Comparative Toxicogenomics Database:30818, Ensembl:ENSG00000115041, GenAtlas:KCNIP3, GeneCard:KCNIP3, HGNC:HGNC:15523, HumanCyc Gene:HS03826, ModBase:Q9Y2W7, NCBI Gene:30818, OMIM:604662, RefSeq DNA:NT_022171, RefSeq Protein:NP_001030086, RefSeq Protein:NP_038462, RefSeq RNA:NM_001034914, RefSeq RNA:NM_013434, UCSC Genome Browser:NM_013434, UniProtKB:Q3YAC3, UniProtKB:Q3YAC4, UniProtKB:Q9Y2W7 No chr2 95963072 96051825 95297324 95386077 +PA134893552 80333 HGNC:30083 ENSG00000185774 potassium voltage-gated channel interacting protein 4 KCNIP4 Kv channel interacting protein 4 CALP, KCHIP4, MGC44947 Yes Yes Ensembl:ENSG00000185774, GeneCard:KCNIP4, HGNC:HGNC:30083, ModBase:Q6PIL6, NCBI Gene:80333, OMIM:608182, RefSeq DNA:NT_006316, RefSeq Protein:NP_001030175, RefSeq Protein:NP_001030176, RefSeq Protein:NP_079497, RefSeq Protein:NP_671710, RefSeq Protein:NP_671711, RefSeq Protein:NP_671712, RefSeq RNA:NM_001035003, RefSeq RNA:NM_001035004, RefSeq RNA:NM_025221, RefSeq RNA:NM_147181, RefSeq RNA:NM_147182, RefSeq RNA:NM_147183, UniProtKB:Q3YAB8, UniProtKB:Q3YAB9, UniProtKB:Q3YAC0, UniProtKB:Q3YAC1, UniProtKB:Q3YAC2, UniProtKB:Q6PIL6 No chr4 20730234 21950424 20728520 21948801 +PA164723641 359822 HGNC:29895 ENSG00000280650 KCNIP4 intronic transcript 1 (non-protein coding) KCNIP4-IT1 non coding transcript UM9(5) UM9-5 Yes No Ensembl:ENSG00000280650, GeneCard:NCRNA00099, HGNC:HGNC:29895, NCBI Gene:359822, RefSeq DNA:NT_006316, RefSeq RNA:NR_002813 No chr4 21844964 21854811 21843341 21853188 +PA213 3758 HGNC:6255 ENSG00000151704 potassium inwardly rectifying channel subfamily J member 1 KCNJ1 """ATP-sensitive inward rectifier potassium channel 1"", ""potassium inwardly-rectifying channel, subfamily J, member 1"", ""potassium voltage-gated channel subfamily J member 1""" Kir1.1, ROMK1 Yes Yes Comparative Toxicogenomics Database:3758, Ensembl:ENSG00000151704, GenAtlas:KCNJ1, GeneCard:KCNJ1, HGNC:HGNC:6255, HumanCyc Gene:HS07765, IUPHAR Receptor:429, ModBase:P48048, NCBI Gene:3758, OMIM:241200, OMIM:600359, RefSeq DNA:NG_009379, RefSeq DNA:NT_033899, RefSeq Protein:NP_000211, RefSeq Protein:NP_722448, RefSeq Protein:NP_722449, RefSeq Protein:NP_722450, RefSeq Protein:NP_722451, RefSeq RNA:NM_000220, RefSeq RNA:NM_153764, RefSeq RNA:NM_153765, RefSeq RNA:NM_153766, RefSeq RNA:NM_153767, UCSC Genome Browser:NM_000220, UniProtKB:P48048 No chr11 128707909 128737268 128838014 128867373 +PA30043 3766 HGNC:6256 ENSG00000177807 potassium inwardly rectifying channel subfamily J member 10 KCNJ10 """potassium inwardly-rectifying channel, subfamily J, member 10"", ""potassium voltage-gated channel subfamily J member 10""" Kir1.2, Kir4.1 Yes No Comparative Toxicogenomics Database:3766, Ensembl:ENSG00000177807, GenAtlas:KCNJ10, GeneCard:KCNJ10, HGNC:HGNC:6256, HumanCyc Gene:HS11218, IUPHAR Receptor:438, ModBase:P78508, NCBI Gene:3766, OMIM:602208, OMIM:612780, RefSeq DNA:NG_016411, RefSeq DNA:NT_004487, RefSeq Protein:NP_002232, RefSeq RNA:NM_002241, UCSC Genome Browser:NM_002241, UniProtKB:P78508 No chr1 160007257 160040051 160037467 160070261 +PA217 3767 HGNC:6257 ENSG00000187486 potassium inwardly rectifying channel subfamily J member 11 KCNJ11 """ATP-sensitive inward rectifier potassium channel 11"", ""beta-cell inward rectifier"", ""potassium inwardly-rectifying channel, subfamily J, member 11"", ""potassium voltage-gated channel subfamily J member 11""" BIR, Kir6.2 Yes Yes Comparative Toxicogenomics Database:3767, Ensembl:ENSG00000187486, GenAtlas:KCNJ11, GeneCard:KCNJ11, HGNC:HGNC:6257, IUPHAR Receptor:442, ModBase:Q14654, NCBI Gene:3767, OMIM:125853, OMIM:600937, OMIM:601820, OMIM:606176, OMIM:610582, RefSeq DNA:NG_012446, RefSeq DNA:NT_009237, RefSeq Protein:NP_000516, RefSeq Protein:NP_001159762, RefSeq RNA:NM_000525, RefSeq RNA:NM_001166290, UCSC Genome Browser:NM_000525, UniProtKB:B2RC52, UniProtKB:B4DWI4 No chr11 17406795 17410878 17385246 17389331 +PA218 3768 HGNC:6258 ENSG00000184185 potassium inwardly rectifying channel subfamily J member 12 KCNJ12 """potassium inwardly-rectifying channel, subfamily J, member 12"", ""potassium voltage-gated channel subfamily J member 12""" IRK2, KCNJN1, Kir2.2, Kir2.2v, hIRK1 Yes No Comparative Toxicogenomics Database:3768, Ensembl:ENSG00000184185, GenAtlas:KCNJ12, GeneCard:KCNJ12, HGNC:HGNC:6258, IUPHAR Receptor:431, ModBase:Q14500, NCBI Gene:3768, OMIM:602323, RefSeq DNA:NT_010718, RefSeq Protein:NP_066292, RefSeq RNA:NM_021012, UCSC Genome Browser:NM_021012, UniProtKB:Q14500 No chr17 21279699 21323184 21376387 21419870 +PA30044 3769 HGNC:6259 ENSG00000115474 potassium inwardly rectifying channel subfamily J member 13 KCNJ13 """potassium inwardly-rectifying channel, subfamily J, member 13"", ""potassium voltage-gated channel subfamily J member 13""" Kir1.4, Kir7.1, LCA16 Yes No Comparative Toxicogenomics Database:3769, Ensembl:ENSG00000115474, GenAtlas:KCNJ13, GeneCard:KCNJ13, HGNC:HGNC:6259, HumanCyc Gene:HS03895, IUPHAR Receptor:443, ModBase:O60928, NCBI Gene:3769, OMIM:193230, OMIM:603208, RefSeq DNA:NG_016742, RefSeq DNA:NT_005403, RefSeq Protein:NP_001165887, RefSeq Protein:NP_001165888, RefSeq Protein:NP_002233, RefSeq RNA:NM_001172416, RefSeq RNA:NM_001172417, RefSeq RNA:NM_002242, UCSC Genome Browser:NM_002242, UniProtKB:A0PGH1, UniProtKB:O60928, UniProtKB:Q53SA1 No chr2 233630512 233641275 232765802 232776565 +PA30045 3770 HGNC:6260 ENSG00000182324 potassium inwardly rectifying channel subfamily J member 14 KCNJ14 """potassium inwardly-rectifying channel, subfamily J, member 14"", ""potassium voltage-gated channel subfamily J member 14""" IRK4, Kir2.4 Yes No Ensembl:ENSG00000182324, GenAtlas:KCNJ14, GeneCard:KCNJ14, HGNC:HGNC:6260, HumanCyc Gene:HS02742, IUPHAR Receptor:433, ModBase:Q9UNX9, NCBI Gene:3770, OMIM:603953, RefSeq DNA:NT_011109, RefSeq Protein:NP_037480, RefSeq Protein:NP_733838, RefSeq RNA:NM_013348, RefSeq RNA:NM_170720, UCSC Genome Browser:NM_013348, UniProtKB:Q9UNX9 No chr19 48958964 48969367 48455707 48466110 +PA30046 3772 HGNC:6261 ENSG00000157551 potassium inwardly rectifying channel subfamily J member 15 KCNJ15 """potassium inwardly-rectifying channel, subfamily J, member 15"", ""potassium voltage-gated channel subfamily J member 15""" IRKK, Kir1.3, Kir4.2 Yes No Comparative Toxicogenomics Database:3772, Ensembl:ENSG00000157551, GenAtlas:KCNJ15, GeneCard:KCNJ15, HGNC:HGNC:6261, HumanCyc Gene:HS08221, IUPHAR Receptor:439, ModBase:Q99712, NCBI Gene:3772, OMIM:602106, RefSeq DNA:NT_011512, RefSeq Protein:NP_002234, RefSeq Protein:NP_733932, RefSeq Protein:NP_733933, RefSeq RNA:NM_002243, RefSeq RNA:NM_170736, RefSeq RNA:NM_170737, UCSC Genome Browser:NM_002243, UniProtKB:Q99712 No chr21 39601837 39675043 38229915 38303126 +PA30047 3773 HGNC:6262 ENSG00000153822 potassium inwardly rectifying channel subfamily J member 16 KCNJ16 """potassium inwardly-rectifying channel, subfamily J, member 16"", ""potassium voltage-gated channel subfamily J member 16""" BIR9, Kir5.1 Yes No Comparative Toxicogenomics Database:3773, Ensembl:ENSG00000153822, GenAtlas:KCNJ16, GeneCard:KCNJ16, HGNC:HGNC:6262, HumanCyc Gene:HS07924, IUPHAR Receptor:440, ModBase:Q9NPI9, NCBI Gene:3773, OMIM:605722, RefSeq DNA:NT_010783, RefSeq Protein:NP_061128, RefSeq Protein:NP_733937, RefSeq Protein:NP_733938, RefSeq RNA:NM_018658, RefSeq RNA:NM_170741, RefSeq RNA:NM_170742, UCSC Genome Browser:NM_018658, UniProtKB:Q8N538, UniProtKB:Q9NPI9 No chr17 68071348 68131749 70075225 70135608 +PA166049037 100134444 HGNC:39080 ENSG00000260458 potassium inwardly rectifying channel subfamily J member 18 KCNJ18 """potassium inwardly-rectifying channel, subfamily J, member 18"", ""potassium voltage-gated channel subfamily J member 18""" KIR2.6, TTPP2 Yes No Ensembl:ENSG00000260458, HGNC:HGNC:39080, NCBI Gene:100134444 No chr17 344888 356977 21692523 21705700 +PA214 3759 HGNC:6263 ENSG00000123700 potassium inwardly rectifying channel subfamily J member 2 KCNJ2 """potassium inwardly-rectifying channel, subfamily J, member 2"", ""potassium voltage-gated channel subfamily J member 2""" IRK1, Kir2.1, LQT7 Yes No Comparative Toxicogenomics Database:3759, Ensembl:ENSG00000123700, GenAtlas:KCNJ2, GeneCard:KCNJ2, HGNC:HGNC:6263, HumanCyc Gene:HS04686, IUPHAR Receptor:430, ModBase:P63252, NCBI Gene:3759, OMIM:170390, OMIM:600681, OMIM:609622, RefSeq DNA:NG_008798, RefSeq DNA:NT_010783, RefSeq Protein:NP_000882, RefSeq RNA:NM_000891, UCSC Genome Browser:NM_000891, UniProtKB:P63252 No chr17 68164757 68176189 70169535 70180044 +PA215 3760 HGNC:6264 ENSG00000162989 potassium inwardly rectifying channel subfamily J member 3 KCNJ3 """G protein-activated inward rectifier potassium channel 1"", ""potassium inwardly-rectifying channel, subfamily J, member 3"", ""potassium voltage-gated channel subfamily J member 3""" GIRK1, KGA, Kir3.1 Yes No Comparative Toxicogenomics Database:3760, Ensembl:ENSG00000162989, GenAtlas:KCNJ3, GeneCard:KCNJ3, HGNC:HGNC:6264, HumanCyc Gene:HS08768, IUPHAR Receptor:434, ModBase:P48549, NCBI Gene:3760, OMIM:601534, RefSeq DNA:NT_005403, RefSeq Protein:NP_002230, RefSeq RNA:NM_002239, UCSC Genome Browser:NM_002239, UniProtKB:P48549 No chr2 155555093 155714864 154698581 154858352 +PA30048 3761 HGNC:6265 ENSG00000168135 potassium inwardly rectifying channel subfamily J member 4 KCNJ4 """potassium inwardly-rectifying channel, subfamily J, member 4"", ""potassium voltage-gated channel subfamily J member 4""" HIR, HRK1, IRK3, Kir2.3, hIRK2 Yes No Ensembl:ENSG00000168135, GenAtlas:KCNJ4, GeneCard:KCNJ4, HGNC:HGNC:6265, HumanCyc Gene:HS09701, IUPHAR Receptor:432, ModBase:P48050, NCBI Gene:3761, OMIM:600504, RefSeq DNA:NT_011520, RefSeq Protein:NP_004972, RefSeq Protein:NP_690607, RefSeq RNA:NM_004981, RefSeq RNA:NM_152868, UCSC Genome Browser:NM_004981, UniProtKB:P48050 No chr22 38822332 38851205 38426327 38455199 +PA216 3762 HGNC:6266 ENSG00000120457 potassium inwardly rectifying channel subfamily J member 5 KCNJ5 """G protein-activated inward rectifier potassium channel 4"", ""potassium inwardly-rectifying channel, subfamily J, member 5"", ""potassium voltage-gated channel subfamily J member 5""" CIR, GIRK4, KATP1, Kir3.4, LQT13 Yes No Comparative Toxicogenomics Database:3762, Ensembl:ENSG00000120457, GenAtlas:KCNJ5, GeneCard:KCNJ5, HGNC:HGNC:6266, HumanCyc Gene:HS04403, IUPHAR Receptor:437, ModBase:P48544, NCBI Gene:3762, OMIM:600734, RefSeq DNA:NG_023406, RefSeq DNA:NT_033899, RefSeq Protein:NP_000881, RefSeq RNA:NM_000890, UCSC Genome Browser:NM_000890, UniProtKB:B2R744, UniProtKB:P48544 No chr11 128761313 128791060 128891418 128921163 +PA30049 3763 HGNC:6267 ENSG00000157542 potassium inwardly rectifying channel subfamily J member 6 KCNJ6 """G protein-activated inward rectifier potassium channel 2"", ""potassium inwardly-rectifying channel, subfamily J, member 6"", ""potassium voltage-gated channel subfamily J member 6""" BIR1, GIRK2, KATP2, KCNJ7, Kir3.2, hiGIRK2 Yes Yes Comparative Toxicogenomics Database:3763, Ensembl:ENSG00000157542, GenAtlas:KCNJ6, GeneCard:KCNJ6, HGNC:HGNC:6267, HumanCyc Gene:HS08220, IUPHAR Receptor:435, ModBase:P48051, NCBI Gene:3763, OMIM:600877, RefSeq DNA:NT_011512, RefSeq Protein:NP_002231, RefSeq RNA:NM_002240, UCSC Genome Browser:NM_002240, UniProtKB:P48051 No chr21 38996778 39288741 37624223 37916438 +PA30050 3764 HGNC:6269 ENSG00000121361 potassium inwardly rectifying channel subfamily J member 8 KCNJ8 """potassium inwardly-rectifying channel, subfamily J, member 8"", ""potassium voltage-gated channel subfamily J member 8""" Kir6.1 Yes No Comparative Toxicogenomics Database:3764, Ensembl:ENSG00000121361, GenAtlas:KCNJ8, GeneCard:KCNJ8, HGNC:HGNC:6269, HumanCyc Gene:HS04487, IUPHAR Receptor:441, ModBase:Q15842, NCBI Gene:3764, OMIM:600935, RefSeq DNA:NT_009714, RefSeq Protein:NP_004973, RefSeq RNA:NM_004982, UCSC Genome Browser:NM_004982, UniProtKB:Q15842 No chr12 21917889 21928436 21764955 21775593 +PA30051 3765 HGNC:6270 ENSG00000162728 potassium inwardly rectifying channel subfamily J member 9 KCNJ9 """G protein-activated inward rectifier potassium channel 3"", ""potassium inwardly-rectifying channel, subfamily J, member 9"", ""potassium voltage-gated channel subfamily J member 9""" GIRK3, Kir3.3 Yes No Ensembl:ENSG00000162728, GenAtlas:KCNJ9, GeneCard:KCNJ9, HGNC:HGNC:6270, HumanCyc Gene:HS08728, IUPHAR Receptor:436, ModBase:Q92806, NCBI Gene:3765, OMIM:600932, RefSeq DNA:NT_004487, RefSeq Protein:NP_004974, RefSeq RNA:NM_004983, UCSC Genome Browser:NM_004983, UniProtKB:Q92806 No chr1 160051360 160059212 160055001 160090563 +PA219 3775 HGNC:6272 ENSG00000135750 potassium two pore domain channel subfamily K member 1 KCNK1 """potassium channel, subfamily K, member 1"", ""tandem of P domains in a weak inward rectifying K+ channel 1""" DPK, K2p1.1, TWIK-1 Yes No Comparative Toxicogenomics Database:3775, Ensembl:ENSG00000135750, GenAtlas:KCNK1, GeneCard:KCNK1, HGNC:HGNC:6272, HumanCyc Gene:HS06058, IUPHAR Receptor:513, ModBase:O00180, NCBI Gene:3775, OMIM:601745, RefSeq DNA:NT_167186, RefSeq Protein:NP_002236, RefSeq RNA:NM_002245, UCSC Genome Browser:NM_002245, UniProtKB:O00180 No chr1 233749750 233808258 233614004 233672512 +PA30053 54207 HGNC:6273 ENSG00000100433 potassium two pore domain channel subfamily K member 10 KCNK10 """potassium channel, subfamily K, member 10"", ""protein phosphatase 1, regulatory subunit 97""" K2p10.1, PPP1R97, TREK-2, TREK2 Yes No Ensembl:ENSG00000100433, GenAtlas:KCNK10, GeneCard:KCNK10, HGNC:HGNC:6273, HumanCyc Gene:HS02084, IUPHAR Receptor:521, ModBase:P57789, NCBI Gene:54207, OMIM:605873, RefSeq DNA:NT_026437, RefSeq Protein:NP_066984, RefSeq Protein:NP_612190, RefSeq Protein:NP_612191, RefSeq RNA:NM_021161, RefSeq RNA:NM_138317, RefSeq RNA:NM_138318, UCSC Genome Browser:NM_021161, UniProtKB:B2R8T4, UniProtKB:B5TJL4, UniProtKB:P57789, UniProtKB:Q6B014 No chr14 88646452 88793256 88180108 88326912 +PA30054 56660 HGNC:6274 ENSG00000184261 potassium two pore domain channel subfamily K member 12 KCNK12 potassium channel, subfamily K, member 12 K2p12.1, THIK-2, THIK2 Yes No Ensembl:ENSG00000184261, GenAtlas:KCNK12, GeneCard:KCNK12, HGNC:HGNC:6274, IUPHAR Receptor:522, ModBase:Q9HB15, NCBI Gene:56660, OMIM:607366, RefSeq DNA:NT_022184, RefSeq Protein:NP_071338, RefSeq RNA:NM_022055, UCSC Genome Browser:NM_022055, UniProtKB:Q10472, UniProtKB:Q9HB15 No chr2 47747914 47797470 47520775 47570331 +PA30055 56659 HGNC:6275 ENSG00000152315 potassium two pore domain channel subfamily K member 13 KCNK13 potassium channel, subfamily K, member 13 K2p13.1, THIK-1, THIK1 Yes No Ensembl:ENSG00000152315, GenAtlas:KCNK13, GeneCard:KCNK13, HGNC:HGNC:6275, HumanCyc Gene:HS07807, IUPHAR Receptor:523, ModBase:Q9HB14, NCBI Gene:56659, OMIM:607367, RefSeq DNA:NT_026437, RefSeq Protein:NP_071337, RefSeq RNA:NM_022054, UCSC Genome Browser:NM_022054, UniProtKB:B5TJL8, UniProtKB:Q9HB14 No chr14 90528109 90652201 90061765 90185857 +PA30056 60598 HGNC:13814 ENSG00000124249 potassium two pore domain channel subfamily K member 15 KCNK15 """TWIK-related acid-sensitive K+ 5"", ""potassium channel, subfamily K, member 15""" K2p15.1, KCNK11, KCNK14, KIAA0237, KT3.3, TASK-5, TASK5, dJ781B1.1 Yes No Ensembl:ENSG00000124249, GenAtlas:KCNK15, GeneCard:KCNK15, HGNC:HGNC:13814, HumanCyc Gene:HS04748, IUPHAR Receptor:524, ModBase:Q9H427, NCBI Gene:60598, OMIM:607368, RefSeq DNA:NT_011362, RefSeq Protein:NP_071753, RefSeq RNA:NM_022358, UCSC Genome Browser:NM_022358, UniProtKB:Q9H427 No chr20 43374488 43380954 44745605 44752313 +PA30057 83795 HGNC:14464 ENSG00000095981 potassium two pore domain channel subfamily K member 16 KCNK16 potassium channel, subfamily K, member 16 K2p16.1, TALK-1, TALK1 Yes No Ensembl:ENSG00000095981, GenAtlas:KCNK16, GeneCard:KCNK16, HGNC:HGNC:14464, HumanCyc Gene:HS01840, IUPHAR Receptor:525, ModBase:Q96T55, NCBI Gene:83795, OMIM:607369, RefSeq DNA:NT_007592, RefSeq Protein:NP_001128577, RefSeq Protein:NP_001128578, RefSeq Protein:NP_001128579, RefSeq Protein:NP_115491, RefSeq RNA:NM_001135105, RefSeq RNA:NM_001135106, RefSeq RNA:NM_001135107, RefSeq RNA:NM_032115, UCSC Genome Browser:NM_032115, UniProtKB:B5TJL9, UniProtKB:Q2M2N9, UniProtKB:Q96T55 No chr6 39282474 39290330 39314566 39322992 +PA30058 89822 HGNC:14465 ENSG00000124780 potassium two pore domain channel subfamily K member 17 KCNK17 """TWIK-related acid-sensitive K+ 4"", ""potassium channel, subfamily K, member 17""" K2p17.1, TALK-2, TALK2, TASK-4, TASK4 Yes No Comparative Toxicogenomics Database:89822, Ensembl:ENSG00000124780, GenAtlas:KCNK17, GeneCard:KCNK17, HGNC:HGNC:14465, HumanCyc Gene:HS04830, IUPHAR Receptor:526, ModBase:Q96T54, NCBI Gene:89822, OMIM:607370, RefSeq DNA:NT_007592, RefSeq Protein:NP_001128583, RefSeq Protein:NP_113648, RefSeq RNA:NM_001135111, RefSeq RNA:NM_031460, UCSC Genome Browser:NM_031460, UniProtKB:Q96T54 No chr6 39266777 39282237 39299001 39314461 +PA134985465 338567 HGNC:19439 ENSG00000186795 potassium two pore domain channel subfamily K member 18 KCNK18 """TWIK related spinal cord K+ channel"", ""potassium channel, subfamily K, member 18""" K2p18.1, TRESK, TRESK-2, TRESK2, TRIK Yes No Ensembl:ENSG00000186795, GeneCard:KCNK18, HGNC:HGNC:19439, IUPHAR Receptor:527, ModBase:Q7Z418, NCBI Gene:338567, RefSeq DNA:NT_030059, RefSeq Protein:NP_862823, RefSeq RNA:NM_181840, UniProtKB:Q7Z418 No chr10 118957000 118969810 117197489 117210299 +PA30059 3776 HGNC:6277 ENSG00000082482 potassium two pore domain channel subfamily K member 2 KCNK2 potassium channel, subfamily K, member 2 K2p2.1, TREK-1 Yes Yes Comparative Toxicogenomics Database:3776, Ensembl:ENSG00000082482, GenAtlas:KCNK2, GeneCard:KCNK2, HGNC:HGNC:6277, HumanCyc Gene:HS01423, IUPHAR Receptor:514, ModBase:O95069, NCBI Gene:3776, OMIM:603219, RefSeq DNA:NT_167186, RefSeq Protein:NP_001017424, RefSeq Protein:NP_001017425, RefSeq Protein:NP_055032, RefSeq RNA:NM_001017424, RefSeq RNA:NM_001017425, RefSeq RNA:NM_014217, UCSC Genome Browser:NM_014217, UniProtKB:O95069, UniProtKB:Q1M186, UniProtKB:Q6ZW95 No chr1 215178885 215410436 215002920 215237093 +PA30060 3777 HGNC:6278 ENSG00000171303 potassium two pore domain channel subfamily K member 3 KCNK3 """TWIK-related acid-sensitive K+ 1"", ""potassium channel, subfamily K, member 3""" K2p3.1, TASK, TASK-1, TASK1 Yes Yes Comparative Toxicogenomics Database:3777, Ensembl:ENSG00000171303, GenAtlas:KCNK3, GeneCard:KCNK3, HGNC:HGNC:6278, HumanCyc Gene:HS10283, IUPHAR Receptor:515, ModBase:O14649, NCBI Gene:3777, OMIM:603220, RefSeq DNA:NT_022184, RefSeq Protein:NP_002237, RefSeq RNA:NM_002246, UCSC Genome Browser:NM_002246, UniProtKB:O14649, UniProtKB:Q53SU2 No chr2 26915581 26954066 26692713 26733420 +PA30061 50801 HGNC:6279 ENSG00000182450 potassium two pore domain channel subfamily K member 4 KCNK4 potassium channel, subfamily K, member 4 K2p4.1, TRAAK Yes No Ensembl:ENSG00000182450, GenAtlas:KCNK4, GeneCard:KCNK4, HGNC:HGNC:6279, HumanCyc Gene:HS00104, IUPHAR Receptor:516, ModBase:Q9NYG8, NCBI Gene:50801, OMIM:605720, RefSeq DNA:NT_167190, RefSeq Protein:NP_201567, RefSeq RNA:NM_033310, UCSC Genome Browser:NM_016611, UniProtKB:Q2YDA1, UniProtKB:Q9NYG8 No chr11 64058774 64067503 64291302 64300031 +PA30062 8645 HGNC:6280 ENSG00000164626 potassium two pore domain channel subfamily K member 5 KCNK5 """TWIK-related acid-sensitive K+ 2"", ""potassium channel, subfamily K, member 5""" K2p5.1, TASK-2, TASK2 Yes No Comparative Toxicogenomics Database:8645, Ensembl:ENSG00000164626, GenAtlas:KCNK5, GeneCard:KCNK5, HGNC:HGNC:6280, HumanCyc Gene:HS09110, IUPHAR Receptor:517, ModBase:O95279, NCBI Gene:8645, OMIM:603493, RefSeq DNA:NT_007592, RefSeq Protein:NP_003731, RefSeq RNA:NM_003740, UCSC Genome Browser:NM_003740, UniProtKB:O95279 No chr6 39156747 39197251 39188971 39229475 +PA30063 9424 HGNC:6281 ENSG00000099337 potassium two pore domain channel subfamily K member 6 KCNK6 potassium channel, subfamily K, member 6 K2p6.1, TWIK-2 Yes No Comparative Toxicogenomics Database:9424, Ensembl:ENSG00000099337, GenAtlas:KCNK6, GeneCard:KCNK6, HGNC:HGNC:6281, HumanCyc Gene:HS01890, IUPHAR Receptor:518, ModBase:Q9Y257, NCBI Gene:9424, OMIM:603939, RefSeq DNA:NT_011109, RefSeq Protein:NP_004814, RefSeq RNA:NM_004823, UCSC Genome Browser:NM_004823, UniProtKB:B2RDS2, UniProtKB:Q9Y257 No chr19 38810484 38819654 38319814 38329014 +PA30064 10089 HGNC:6282 ENSG00000173338 potassium two pore domain channel subfamily K member 7 KCNK7 potassium channel, subfamily K, member 7 K2p7.1 Yes No Ensembl:ENSG00000173338, GenAtlas:KCNK7, GeneCard:KCNK7, HGNC:HGNC:6282, HumanCyc Gene:HS10653, IUPHAR Receptor:519, ModBase:Q9Y2U2, NCBI Gene:10089, OMIM:603940, RefSeq DNA:NT_167190, RefSeq Protein:NP_005705, RefSeq Protein:NP_203133, RefSeq Protein:NP_203134, RefSeq Protein:NP_258416, RefSeq RNA:NM_005714, RefSeq RNA:NM_033347, RefSeq RNA:NM_033348, RefSeq RNA:NM_033455, UCSC Genome Browser:NM_005714, UniProtKB:Q9Y2U2 No chr11 65360326 65363467 65592855 65595996 +PA30065 51305 HGNC:6283 ENSG00000169427 potassium two pore domain channel subfamily K member 9 KCNK9 """TWIK-related acid-sensitive K+ 3"", ""potassium channel, subfamily K, member 9""" K2p9.1, TASK-3, TASK3 Yes No Comparative Toxicogenomics Database:51305, Ensembl:ENSG00000169427, GenAtlas:KCNK9, GeneCard:KCNK9, HGNC:HGNC:6283, HumanCyc Gene:HS09946, IUPHAR Receptor:520, ModBase:Q9NPC2, NCBI Gene:51305, OMIM:605874, OMIM:612292, RefSeq DNA:NG_012842, RefSeq DNA:NT_008046, RefSeq Protein:NP_057685, RefSeq RNA:NM_016601, UCSC Genome Browser:NM_016601, UniProtKB:Q9NPC2 No chr8 140613081 140715299 139600838 139703135 +PA220 3778 HGNC:6284 ENSG00000156113 potassium calcium-activated channel subfamily M alpha 1 KCNMA1 """BK channel alpha subunit"", ""big potassium channel alpha subunit"", ""maxiK channel"", ""potassium large conductance calcium-activated channel, subfamily M, alpha member 1""" KCa1.1, SLO, mSLO1 Yes Yes Comparative Toxicogenomics Database:3778, Ensembl:ENSG00000156113, GenAtlas:KCNMA1, GeneCard:KCNMA1, HGNC:HGNC:6284, HumanCyc Gene:HS08098, IUPHAR Receptor:380, ModBase:Q9UBB0, NCBI Gene:3778, OMIM:600150, OMIM:609446, RefSeq DNA:NG_012270, RefSeq DNA:NT_030059, RefSeq Protein:NP_001014797, RefSeq Protein:NP_001154824, RefSeq Protein:NP_001154825, RefSeq Protein:NP_002238, RefSeq RNA:NM_001014797, RefSeq RNA:NM_001161352, RefSeq RNA:NM_001161353, RefSeq RNA:NM_002247, UCSC Genome Browser:NM_002247, UniProtKB:Q12791, UniProtKB:Q59FH2 No chr10 78629359 79397577 76869601 77637819 +PA221 3779 HGNC:6285 ENSG00000145936 potassium calcium-activated channel subfamily M regulatory beta subunit 1 KCNMB1 """BK channel beta subunit"", ""BK channel beta subunit 1"", ""MaxiK channel beta-subunit 1"", ""big potassium channel beta subunit 1"", ""potassium large conductance calcium-activated channel, subfamily M, beta member 1""" hslo-beta Yes Yes Comparative Toxicogenomics Database:3779, Ensembl:ENSG00000145936, GenAtlas:KCNMB1, GeneCard:KCNMB1, HGNC:HGNC:6285, HumanCyc Gene:HS07305, NCBI Gene:3779, OMIM:603951, OMIM:608622, RefSeq DNA:NG_011452, RefSeq DNA:NT_023133, RefSeq Protein:NP_004128, RefSeq RNA:NM_004137, UCSC Genome Browser:NM_004137, UniProtKB:Q16558 No chr5 169805165 169816681 170378161 170389677 +PA30066 10242 HGNC:6286 ENSG00000197584 potassium calcium-activated channel subfamily M regulatory beta subunit 2 KCNMB2 """BK channel beta subunit 2"", ""MaxiK channel beta-subunit 2"", ""big potassium channel beta subunit 2"", ""potassium large conductance calcium-activated channel, subfamily M, beta member 2""" Yes Yes Ensembl:ENSG00000197584, GenAtlas:KCNMB2, GeneCard:KCNMB2, HGNC:HGNC:6286, NCBI Gene:10242, OMIM:605214, RefSeq DNA:NT_005612, RefSeq Protein:NP_005823, RefSeq Protein:NP_852006, RefSeq RNA:NM_005832, RefSeq RNA:NM_181361, UCSC Genome Browser:NM_005832, UniProtKB:Q9Y691 No chr3 178254086 178562217 178536298 178844429 +PA30067 27094 HGNC:6287 ENSG00000171121 potassium calcium-activated channel subfamily M regulatory beta subunit 3 KCNMB3 """BK channel beta subunit 3"", ""MaxiK channel beta-subunit 3"", ""big potassium channel beta subunit 3"", ""potassium large conductance calcium-activated channel, subfamily M beta member 3""" KCNMB2, KCNMBL Yes No Ensembl:ENSG00000171121, GenAtlas:KCNMB3, GeneCard:KCNMB3, HGNC:HGNC:6287, HumanCyc Gene:HS10248, ModBase:Q9NPA1, NCBI Gene:27094, OMIM:605222, RefSeq DNA:NT_005612, RefSeq Protein:NP_001157149, RefSeq Protein:NP_055222, RefSeq Protein:NP_741979, RefSeq Protein:NP_741980, RefSeq Protein:NP_741981, RefSeq RNA:NM_001163677, RefSeq RNA:NM_014407, RefSeq RNA:NM_171828, RefSeq RNA:NM_171829, RefSeq RNA:NM_171830, RefSeq RNA:NR_028135, UCSC Genome Browser:NM_014407, UniProtKB:B7Z9C9, UniProtKB:Q9NPA1 No chr3 178957537 178984838 179239749 179267050 +PA30068 27093 HGNC:6288 ENSG00000239435 potassium large conductance calcium-activated channel, subfamily M, beta member 3 pseudogene 1 KCNMB3P1 KCNMB3L1 Yes No Ensembl:ENSG00000239435, GenAtlas:KCNMB3L, GeneCard:KCNMB3P1, HGNC:HGNC:6288, HumanCyc Gene:HS00401, NCBI Gene:27093, RefSeq DNA:NG_002679, RefSeq DNA:NT_011519, UCSC Genome Browser:NM_014406 No chr22 17061456 17063795 16580766 16582707 +PA30069 27345 HGNC:6289 ENSG00000135643 potassium calcium-activated channel subfamily M regulatory beta subunit 4 KCNMB4 """BK channel beta subunit 4"", ""MaxiK channel beta-subunit 4"", ""big potassium channel beta subunit 4"", ""potassium large conductance calcium-activated channel, subfamily M, beta member 4""" Yes No Comparative Toxicogenomics Database:27345, Ensembl:ENSG00000135643, GenAtlas:KCNMB4, GeneCard:KCNMB4, HGNC:HGNC:6289, HumanCyc Gene:HS06044, NCBI Gene:27345, OMIM:605223, RefSeq DNA:NT_029419, RefSeq Protein:NP_055320, RefSeq RNA:NM_014505, UCSC Genome Browser:NM_014505, UniProtKB:Q86W47 No chr12 70760062 70828072 70366220 70434292 +PA30070 3780 HGNC:6290 ENSG00000105642 potassium calcium-activated channel subfamily N member 1 KCNN1 """potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1"", ""small conductance calcium-activated potassium channel 1""" KCa2.1, hSK1 Yes Yes Ensembl:ENSG00000105642, GenAtlas:KCNN1, GeneCard:KCNN1, HGNC:HGNC:6290, HumanCyc Gene:HS02777, IUPHAR Receptor:381, ModBase:Q92952, NCBI Gene:3780, OMIM:602982, RefSeq DNA:NT_011295, RefSeq Protein:NP_002239, RefSeq RNA:NM_002248, UCSC Genome Browser:NM_002248, UniProtKB:Q92952 No chr19 18062111 18110133 17951302 17999121 +PA30071 3781 HGNC:6291 ENSG00000080709 potassium calcium-activated channel subfamily N member 2 KCNN2 """potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2"", ""small conductance calcium-activated potassium channel 2""" KCa2.2, hSK2 Yes No Comparative Toxicogenomics Database:3781, Ensembl:ENSG00000080709, GenAtlas:KCNN2, GeneCard:KCNN2, HGNC:HGNC:6291, HumanCyc Gene:HS01366, IUPHAR Receptor:382, ModBase:Q9H2S1, NCBI Gene:3781, OMIM:605879, RefSeq DNA:NT_034772, RefSeq Protein:NP_067627, RefSeq Protein:NP_740721, RefSeq RNA:NM_021614, RefSeq RNA:NM_170775, UCSC Genome Browser:NM_021614, UniProtKB:Q6PJI0, UniProtKB:Q9H2S1 No chr5 113698016 113832197 114056006 114496500 +PA30072 3782 HGNC:6292 ENSG00000143603 potassium calcium-activated channel subfamily N member 3 KCNN3 """potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3"", ""small conductance calcium-activated potassium channel 3""" KCa2.3, SKCA3, hSK3 Yes No Ensembl:ENSG00000143603, GenAtlas:KCNN3, GeneCard:KCNN3, HGNC:HGNC:6292, HumanCyc Gene:HS07084, IUPHAR Receptor:383, ModBase:Q9UGI6, NCBI Gene:3782, OMIM:602983, RefSeq DNA:NG_016807, RefSeq DNA:NT_004487, RefSeq Protein:NP_001191016, RefSeq Protein:NP_002240, RefSeq Protein:NP_740752, RefSeq RNA:NM_001204087, RefSeq RNA:NM_002249, RefSeq RNA:NM_170782, UCSC Genome Browser:NM_002249, UniProtKB:Q9UGI6 No chr1 154669938 154842754 154697462 154870278 +PA222 3783 HGNC:6293 ENSG00000104783 potassium calcium-activated channel subfamily N member 4 KCNN4 """intermediate conductance calcium-activated potassium channel"", ""potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4"", ""small conductance calcium-activated potassium channel 4""" IK, KCa3.1, hIKCa1, hKCa4, hSK4 Yes No Comparative Toxicogenomics Database:3783, Ensembl:ENSG00000104783, GenAtlas:KCNN4, GeneCard:KCNN4, HGNC:HGNC:6293, HumanCyc Gene:HS02618, IUPHAR Receptor:384, ModBase:O15554, NCBI Gene:3783, OMIM:602754, RefSeq DNA:NT_011109, RefSeq Protein:NP_002241, RefSeq RNA:NM_002250, UCSC Genome Browser:NM_002250, UniProtKB:O15554 No chr19 44270685 44286269 43766533 43782139 +PA223 3784 HGNC:6294 ENSG00000053918 potassium voltage-gated channel subfamily Q member 1 KCNQ1 """Jervell and Lange-Nielsen syndrome 1"", ""potassium voltage-gated channel, KQT-like subfamily, member 1""" JLNS1, KCNA8, KCNA9, KVLQT1, Kv7.1, LQT, LQT1 Yes Yes Comparative Toxicogenomics Database:3784, Ensembl:ENSG00000053918, GenAtlas:KCNQ1, GeneCard:KCNQ1, HGNC:HGNC:6294, HumanCyc Gene:HS00662, IUPHAR Receptor:560, ModBase:P51787, NCBI Gene:3784, OMIM:192500, OMIM:220400, OMIM:607542, OMIM:607554, OMIM:609621, RefSeq DNA:NG_008935, RefSeq DNA:NT_009237, RefSeq Protein:NP_000209, RefSeq Protein:NP_861463, RefSeq RNA:NM_000218, RefSeq RNA:NM_181798, UCSC Genome Browser:NM_000218, UniProtKB:P51787, UniProtKB:Q14D14 No chr11 2466221 2870340 2444991 2849110 +PA134924946 55539 HGNC:13335 ENSG00000237941 KCNQ1 downstream neighbor (non-protein coding) KCNQ1DN BWRT, HSA404617 Yes No Ensembl:ENSG00000237941, GeneCard:KCNQ1DN, HGNC:HGNC:13335, NCBI Gene:55539, OMIM:610980, RefSeq DNA:NT_009237, RefSeq RNA:NR_024627 No chr11 2891263 2893335 2870033 2872105 +PA30073 10984 HGNC:6295 ENSG00000269821 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) KCNQ1OT1 KCNQ1 antisense RNA 2 (non-protein coding), KCNQ1 overlapping transcript 1 (non-protein coding), non-protein coding RNA 12 KCNQ1-AS2, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012 Yes No Comparative Toxicogenomics Database:10984, Ensembl:ENSG00000269821, GenAtlas:KCNQ1OT1, GeneCard:KCNQ1OT1, HGNC:HGNC:6295, NCBI Gene:10984, OMIM:130650, OMIM:604115, RefSeq DNA:NG_016178, RefSeq DNA:NT_009237, RefSeq RNA:NR_002728 No chr11 2629558 2721228 2608328 2699998 +PA30074 3785 HGNC:6296 ENSG00000075043 potassium voltage-gated channel subfamily Q member 2 KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, Kv7.2 Yes No Comparative Toxicogenomics Database:3785, Ensembl:ENSG00000075043, GenAtlas:KCNQ2, GeneCard:KCNQ2, HGNC:HGNC:6296, HumanCyc Gene:HS01157, IUPHAR Receptor:561, ModBase:O43526, NCBI Gene:3785, OMIM:121200, OMIM:602235, OMIM:606437, RefSeq DNA:NG_009004, RefSeq DNA:NT_011333, RefSeq Protein:NP_004509, RefSeq Protein:NP_742104, RefSeq Protein:NP_742105, RefSeq Protein:NP_742106, RefSeq Protein:NP_742107, RefSeq RNA:NM_004518, RefSeq RNA:NM_172106, RefSeq RNA:NM_172107, RefSeq RNA:NM_172108, RefSeq RNA:NM_172109, UCSC Genome Browser:NM_004518, UniProtKB:O43526, UniProtKB:Q53Y30 No chr20 62031561 62103993 63400208 63472677 +PA30075 3786 HGNC:6297 ENSG00000184156 potassium voltage-gated channel subfamily Q member 3 KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3 EBN2, Kv7.3 Yes Yes Comparative Toxicogenomics Database:3786, Ensembl:ENSG00000184156, GenAtlas:KCNQ3, GeneCard:KCNQ3, HGNC:HGNC:6297, IUPHAR Receptor:562, ModBase:O43525, NCBI Gene:3786, OMIM:121201, OMIM:602232, RefSeq DNA:NG_008854, RefSeq DNA:NT_008046, RefSeq Protein:NP_001191753, RefSeq Protein:NP_004510, RefSeq RNA:NM_001204824, RefSeq RNA:NM_004519, UCSC Genome Browser:NM_004519, UniProtKB:O43525 No chr8 133133105 133493004 132120858 132480757 +PA30076 9132 HGNC:6298 ENSG00000117013 potassium voltage-gated channel subfamily Q member 4 KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4 DFNA2, Kv7.4 Yes No Comparative Toxicogenomics Database:9132, Ensembl:ENSG00000117013, GenAtlas:KCNQ4, GeneCard:KCNQ4, HGNC:HGNC:6298, HumanCyc Gene:HS04084, IUPHAR Receptor:563, ModBase:P56696, NCBI Gene:9132, OMIM:600101, OMIM:603537, RefSeq DNA:NG_008139, RefSeq DNA:NT_032977, RefSeq Protein:NP_004691, RefSeq Protein:NP_751895, RefSeq RNA:NM_004700, RefSeq RNA:NM_172163, UCSC Genome Browser:NM_004700, UniProtKB:P56696 No chr1 41249684 41306124 40784012 40840457 +PA30077 56479 HGNC:6299 ENSG00000185760 potassium voltage-gated channel subfamily Q member 5 KCNQ5 potassium voltage-gated channel, KQT-like subfamily, member 5 Kv7.5 Yes Yes Comparative Toxicogenomics Database:56479, Ensembl:ENSG00000185760, GenAtlas:KCNQ5, GeneCard:KCNQ5, HGNC:HGNC:6299, IUPHAR Receptor:564, ModBase:Q9NR82, NCBI Gene:56479, OMIM:607357, RefSeq DNA:NT_007299, RefSeq Protein:NP_001153602, RefSeq Protein:NP_001153604, RefSeq Protein:NP_001153605, RefSeq Protein:NP_001153606, RefSeq Protein:NP_062816, RefSeq RNA:NM_001160130, RefSeq RNA:NM_001160132, RefSeq RNA:NM_001160133, RefSeq RNA:NM_001160134, RefSeq RNA:NM_019842, UCSC Genome Browser:NM_019842, UniProtKB:A6PVT6, UniProtKB:B4DS33, UniProtKB:Q9NR82 No chr6 73331571 73908574 72621843 73198851 +PA134924183 283518 HGNC:18893 ENSG00000198553 potassium channel regulator KCNRG Yes No Ensembl:ENSG00000198553, GeneCard:KCNRG, HGNC:HGNC:18893, ModBase:Q8N5I3, NCBI Gene:283518, OMIM:607947, RefSeq DNA:NT_024524, RefSeq Protein:NP_775876, RefSeq Protein:NP_955751, RefSeq RNA:NM_173605, RefSeq RNA:NM_199464, UniProtKB:Q8N5I3 No chr13 50589390 50595058 50015254 50020922 +PA30078 3787 HGNC:6300 ENSG00000124134 potassium voltage-gated channel modifier subfamily S member 1 KCNS1 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 Kv9.1 Yes Yes Ensembl:ENSG00000124134, GenAtlas:KCNS1, GeneCard:KCNS1, HGNC:HGNC:6300, HumanCyc Gene:HS04717, IUPHAR Receptor:567, ModBase:Q96KK3, NCBI Gene:3787, OMIM:602905, RefSeq DNA:NT_011362, RefSeq Protein:NP_002242, RefSeq RNA:NM_002251, UCSC Genome Browser:NM_002251, UniProtKB:A2RUL8, UniProtKB:Q96KK3 No chr20 43720950 43729753 45091214 45101112 +PA30079 3788 HGNC:6301 ENSG00000156486 potassium voltage-gated channel modifier subfamily S member 2 KCNS2 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 Kv9.2 Yes No Ensembl:ENSG00000156486, GenAtlas:KCNS2, GeneCard:KCNS2, HGNC:HGNC:6301, HumanCyc Gene:HS08132, IUPHAR Receptor:568, ModBase:Q9ULS6, NCBI Gene:3788, OMIM:602906, RefSeq DNA:NT_008046, RefSeq Protein:NP_065748, RefSeq RNA:NM_020697, UniProtKB:Q9ULS6 No chr8 99439250 99443025 98427022 98430797 +PA30080 3790 HGNC:6302 ENSG00000170745 potassium voltage-gated channel modifier subfamily S member 3 KCNS3 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 Kv9.3 Yes No Comparative Toxicogenomics Database:3790, Ensembl:ENSG00000170745, GenAtlas:KCNS3, GeneCard:KCNS3, HGNC:HGNC:6302, HumanCyc Gene:HS10173, IUPHAR Receptor:569, ModBase:Q9BQ31, NCBI Gene:3790, OMIM:603888, RefSeq DNA:NG_012873, RefSeq DNA:NT_015926, RefSeq Protein:NP_002243, RefSeq RNA:NM_002252, UCSC Genome Browser:NM_002252, UniProtKB:Q4ZFY1, UniProtKB:Q9BQ31 No chr2 18059105 18114225 17877847 17932961 +PA38725 57582 HGNC:18865 ENSG00000107147 potassium sodium-activated channel subfamily T member 1 KCNT1 """Sequence like a calcium-activated K+ channel"", ""potassium channel, subfamily T, member 1""" KCa4.1, KIAA1422, SLACK, Slo2.2 Yes Yes Comparative Toxicogenomics Database:57582, Ensembl:ENSG00000107147, GenAtlas:KCNT1, GeneCard:KCNT1, HGNC:HGNC:18865, HumanCyc Gene:HS02973, IUPHAR Receptor:385, ModBase:Q5JUK3, NCBI Gene:57582, OMIM:608167, RefSeq DNA:NT_019501, RefSeq Protein:NP_065873, RefSeq RNA:NM_020822, UniProtKB:B3KXF7, UniProtKB:B7ZVY4, UniProtKB:B9EGP2 No chr9 138594031 138684993 135700807 135793147 +PA38726 343450 HGNC:18866 ENSG00000162687 potassium sodium-activated channel subfamily T member 2 KCNT2 """potassium channel, subfamily T, member 2"", ""sodium and chloride activated ATP sensitive potassium channel""" KCa4.2, SLICK, SLO2.1 Yes Yes Comparative Toxicogenomics Database:343450, Ensembl:ENSG00000162687, GenAtlas:KCNT2, GeneCard:KCNT2, HGNC:HGNC:18866, IUPHAR Receptor:386, ModBase:Q6UVM3, NCBI Gene:343450, OMIM:610044, RefSeq DNA:NT_004487, RefSeq Protein:NP_940905, RefSeq RNA:NM_198503, UniProtKB:A9LNM6, UniProtKB:Q6UVM3, UniProtKB:Q6ZS12 No chr1 196194913 196577690 196225779 196608905 +PA38727 157855 HGNC:18867 ENSG00000215262 potassium calcium-activated channel subfamily U member 1 KCNU1 potassium channel, subfamily U, member 1 KCNMC1, KCa5.1, Kcnma3, Slo3 Yes No Ensembl:ENSG00000215262, GenAtlas:KCNU1, GeneCard:KCNU1, HGNC:HGNC:18867, IUPHAR Receptor:387, ModBase:A8MYU2, NCBI Gene:157855, RefSeq DNA:NT_167187, RefSeq Protein:NP_001027006, RefSeq RNA:NM_001031836, UniProtKB:A8MYU2 No chr8 36641842 36793643 36784324 36936125 +PA38721 27012 HGNC:18861 ENSG00000164794 potassium voltage-gated channel modifier subfamily V member 1 KCNV1 potassium channel, subfamily V, member 1 Kv8.1 Yes No Ensembl:ENSG00000164794, GenAtlas:KCNV1, GeneCard:KCNV1, HGNC:HGNC:18861, HumanCyc Gene:HS09138, IUPHAR Receptor:565, ModBase:Q6PIU1, NCBI Gene:27012, OMIM:608164, RefSeq DNA:NT_008046, RefSeq Protein:NP_055194, RefSeq RNA:NM_014379, UCSC Genome Browser:NM_014379, UniProtKB:Q6PIU1 No chr8 110979233 110987963 109963645 109975847 +PA134992655 169522 HGNC:19698 ENSG00000168263 potassium voltage-gated channel modifier subfamily V member 2 KCNV2 potassium channel, subfamily V, member 2 Kv8.2 Yes No Ensembl:ENSG00000168263, GeneCard:KCNV2, HGNC:HGNC:19698, HumanCyc Gene:HS09719, IUPHAR Receptor:566, ModBase:Q8TDN2, NCBI Gene:169522, OMIM:607604, OMIM:610356, RefSeq DNA:NG_012181, RefSeq DNA:NT_008413, RefSeq Protein:NP_598004, RefSeq RNA:NM_133497, UniProtKB:Q8TDN2 No chr9 2717526 2730037 2717526 2730037 +PA164721151 375616 HGNC:17585 ENSG00000135253 kielin cysteine rich BMP regulator KCP kielin, kielin/chordin-like protein CRIM2, FLJ33365, NET67 Yes No Ensembl:ENSG00000135253, GeneCard:KCP, HGNC:HGNC:17585, NCBI Gene:375616, OMIM:609344, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001129386, RefSeq Protein:NP_955381, RefSeq RNA:NM_001135914, RefSeq RNA:NM_199349, UniProtKB:Q6ZWJ8 No chr7 128516919 128550773 128870645 128910719 +PA30082 284252 HGNC:18249 ENSG00000134504 potassium channel tetramerization domain containing 1 KCTD1 potassium channel tetramerisation domain containing 1 C18orf5 Yes No Ensembl:ENSG00000134504, GenAtlas:KCTD1, GeneCard:KCTD1, HGNC:HGNC:18249, ModBase:Q719H9, NCBI Gene:284252, OMIM:613420, RefSeq DNA:NT_010966, RefSeq Protein:NP_001129677, RefSeq Protein:NP_001136202, RefSeq Protein:NP_945342, RefSeq RNA:NM_001136205, RefSeq RNA:NM_001142730, RefSeq RNA:NM_198991, UniProtKB:Q719H9 No chr18 24034874 24237365 26454910 26657401 +PA134938409 83892 HGNC:23236 ENSG00000110906 potassium channel tetramerization domain containing 10 KCTD10 potassium channel tetramerisation domain containing 10 BTBD28, MSTP028 Yes No Comparative Toxicogenomics Database:83892, Ensembl:ENSG00000110906, GeneCard:KCTD10, HGNC:HGNC:23236, HumanCyc Gene:HS03352, ModBase:Q9H3F6, NCBI Gene:83892, OMIM:613421, RefSeq DNA:NT_009775, RefSeq Protein:NP_114160, RefSeq RNA:NM_031954, UniProtKB:Q9H3F6 No chr12 109886460 109915165 109448655 109477544 +PA134890547 147040 HGNC:21302 ENSG00000213859 potassium channel tetramerization domain containing 11 KCTD11 potassium channel tetramerisation domain containing 11 C17orf36, KCASH1, REN Yes No Comparative Toxicogenomics Database:147040, Ensembl:ENSG00000213859, GeneCard:KCTD11, HGNC:HGNC:21302, ModBase:Q693B1, NCBI Gene:147040, OMIM:609848, RefSeq DNA:NT_010718, RefSeq Protein:NP_001002914, RefSeq RNA:NM_001002914, UniProtKB:Q693B1 No chr17 7255208 7258263 7351889 7354944 +PA25512 115207 HGNC:14678 ENSG00000178695 potassium channel tetramerization domain containing 12 KCTD12 potassium channel tetramerisation domain containing 12, predominantly fetal expressed T1 domain C13orf2, KIAA1778, PFET1 Yes No Comparative Toxicogenomics Database:115207, Ensembl:ENSG00000178695, GenAtlas:KCTD12, GeneCard:KCTD12, HGNC:HGNC:14678, HumanCyc Gene:HS11307, ModBase:Q96CX2, NCBI Gene:115207, OMIM:610521, RefSeq DNA:NT_024524, RefSeq Protein:NP_612453, RefSeq RNA:NM_138444, UniProtKB:Q96CX2 No chr13 77454304 77460540 76880169 76886405 +PA134907908 253980 HGNC:22234 ENSG00000174943 potassium channel tetramerization domain containing 13 KCTD13 TNFAIP1-like, polymerase delta-interacting protein 1, potassium channel tetramerisation domain containing 13 FKSG86, PDIP1, POLDIP1 Yes No Comparative Toxicogenomics Database:253980, Ensembl:ENSG00000174943, GeneCard:KCTD13, HGNC:HGNC:22234, HumanCyc Gene:HS11942, ModBase:Q8WZ19, NCBI Gene:253980, OMIM:608947, RefSeq DNA:NT_010393, RefSeq Protein:NP_849194, RefSeq RNA:NM_178863, UniProtKB:Q8WZ19 No chr16 29917657 29937545 29906335 29926247 +PA134875104 65987 HGNC:23295 ENSG00000151364 potassium channel tetramerization domain containing 14 KCTD14 potassium channel tetramerisation domain containing 14 MGC2376 Yes No Comparative Toxicogenomics Database:65987, Ensembl:ENSG00000151364, GeneCard:KCTD14, HGNC:HGNC:23295, HumanCyc Gene:HS07727, ModBase:Q9BQ13, NCBI Gene:65987, RefSeq DNA:NT_167190, RefSeq Protein:NP_076419, RefSeq RNA:NM_023930, UniProtKB:Q9BQ13 No chr11 77726761 77757237 78015715 78046191 +PA134916319 79047 HGNC:23297 ENSG00000153885 potassium channel tetramerization domain containing 15 KCTD15 potassium channel tetramerisation domain containing 15 MGC25497 Yes No Comparative Toxicogenomics Database:79047, Ensembl:ENSG00000153885, GeneCard:KCTD15, HGNC:HGNC:23297, HumanCyc Gene:HS07927, ModBase:Q96SI1, NCBI Gene:79047, RefSeq DNA:NT_011109, RefSeq Protein:NP_001123466, RefSeq Protein:NP_001123467, RefSeq Protein:NP_076981, RefSeq RNA:NM_001129994, RefSeq RNA:NM_001129995, RefSeq RNA:NM_024076, UniProtKB:Q96SI1 No chr19 34287751 34306666 33795540 33815761 +PA134973546 57528 HGNC:29244 ENSG00000183775 potassium channel tetramerization domain containing 16 KCTD16 potassium channel tetramerisation domain containing 16 KIAA1317 Yes No Ensembl:ENSG00000183775, GeneCard:KCTD16, HGNC:HGNC:29244, ModBase:Q68DU8, NCBI Gene:57528, OMIM:613423, RefSeq DNA:NT_029289, RefSeq Protein:NP_065819, RefSeq RNA:NM_020768, UniProtKB:A8K8W2, UniProtKB:Q68DU8 No chr5 143550437 143858097 144170723 144485686 +PA142671638 79734 HGNC:25705 ENSG00000100379 potassium channel tetramerization domain containing 17 KCTD17 potassium channel tetramerisation domain containing 17 FLJ12242 Yes No Ensembl:ENSG00000100379, GeneCard:KCTD17, HGNC:HGNC:25705, HumanCyc Gene:HS02066, ModBase:Q8N5Z5, NCBI Gene:79734, RefSeq DNA:NT_011520, RefSeq Protein:NP_078957, RefSeq RNA:NM_024681, UniProtKB:Q8N5Z5 No chr22 37447779 37459430 37051725 37063390 +PA142671639 130535 HGNC:26446 ENSG00000155729 potassium channel tetramerization domain containing 18 KCTD18 potassium channel tetramerisation domain containing 18 6530404F10Rik, FLJ31322, FLJ37818 Yes No Ensembl:ENSG00000155729, GeneCard:KCTD18, HGNC:HGNC:26446, HumanCyc Gene:HS08064, ModBase:Q6PI47, NCBI Gene:130535, RefSeq DNA:NT_005403, RefSeq Protein:NP_689600, RefSeq RNA:NM_152387, UniProtKB:Q6PI47 No chr2 201353677 201374817 200488952 200510094 +PA142671640 146212 HGNC:24753 ENSG00000168676 potassium channel tetramerization domain containing 19 KCTD19 potassium channel tetramerisation domain containing 19 FLJ40162 Yes No Ensembl:ENSG00000168676, GeneCard:KCTD19, HGNC:HGNC:24753, ModBase:Q17RG1, NCBI Gene:146212, RefSeq DNA:NT_010498, RefSeq Protein:NP_001094385, RefSeq RNA:NM_001100915, UniProtKB:Q17RG1 No chr16 67323338 67360664 67289490 67326758 +PA134890451 23510 HGNC:21294 ENSG00000180901 potassium channel tetramerization domain containing 2 KCTD2 potassium channel tetramerisation domain containing 2 KIAA0176 Yes No Comparative Toxicogenomics Database:23510, Ensembl:ENSG00000180901, GeneCard:KCTD2, HGNC:HGNC:21294, ModBase:Q14681, NCBI Gene:23510, OMIM:613422, RefSeq DNA:NT_010783, RefSeq Protein:NP_056168, RefSeq RNA:NM_015353, UniProtKB:Q14681, UniProtKB:Q8IYY2 No chr17 73043279 73061981 75032567 75065889 +PA134913479 222658 HGNC:21052 ENSG00000112078 potassium channel tetramerization domain containing 20 KCTD20 potassium channel tetramerisation domain containing 20 C6orf69, MGC14254, dJ108K11.3 Yes No Comparative Toxicogenomics Database:222658, Ensembl:ENSG00000112078, GeneCard:KCTD20, HGNC:HGNC:21052, HumanCyc Gene:HS03509, ModBase:Q7Z5Y7, NCBI Gene:222658, RefSeq DNA:NT_007592, RefSeq Protein:NP_775833, RefSeq RNA:NM_173562, UniProtKB:Q7Z5Y7 No chr6 36410544 36458918 36442767 36491143 +PA145148689 283219 HGNC:27452 ENSG00000188997 potassium channel tetramerization domain containing 21 KCTD21 potassium channel tetramerisation domain containing 21 KCASH2 Yes No Ensembl:ENSG00000188997, GeneCard:KCTD21, HGNC:HGNC:27452, ModBase:Q4G0X4, NCBI Gene:283219, RefSeq DNA:NT_167190, RefSeq Protein:NP_001025030, RefSeq RNA:NM_001029859, UniProtKB:Q4G0X4 No chr11 77882289 77900006 78171243 78188854 +PA134945859 51133 HGNC:21305 ENSG00000136636 potassium channel tetramerization domain containing 3 KCTD3 potassium channel tetramerisation domain containing 3 NY-REN-45 Yes No Comparative Toxicogenomics Database:51133, Ensembl:ENSG00000136636, GeneCard:KCTD3, HGNC:HGNC:21305, HumanCyc Gene:HS06191, ModBase:Q9Y597, NCBI Gene:51133, OMIM:613272, RefSeq DNA:NT_167186, RefSeq Protein:NP_057205, RefSeq RNA:NM_016121, UniProtKB:Q9Y597 No chr1 215740528 215795149 215567185 215621821 +PA134880839 386618 HGNC:23227 ENSG00000180332 potassium channel tetramerization domain containing 4 KCTD4 potassium channel tetramerisation domain containing 4 bA321C24.3 Yes No Ensembl:ENSG00000180332, GeneCard:KCTD4, HGNC:HGNC:23227, ModBase:Q8WVF5, NCBI Gene:386618, RefSeq DNA:NT_024524, RefSeq Protein:NP_940686, RefSeq RNA:NM_198404, UniProtKB:Q8WVF5 No chr13 45766988 45775175 45192853 45201040 +PA134923177 54442 HGNC:21423 ENSG00000167977 potassium channel tetramerization domain containing 5 KCTD5 potassium channel tetramerisation domain containing 5 FLJ20040 Yes No Comparative Toxicogenomics Database:54442, Ensembl:ENSG00000167977, GeneCard:KCTD5, HGNC:HGNC:21423, HumanCyc Gene:HS09671, ModBase:Q9NXV2, NCBI Gene:54442, OMIM:611285, RefSeq DNA:NT_010393, RefSeq Protein:NP_061865, RefSeq RNA:NM_018992, UniProtKB:Q9NXV2 No chr16 2732495 2759031 2682494 2709030 +PA134918095 200845 HGNC:22235 ENSG00000168301 potassium channel tetramerization domain containing 6 KCTD6 potassium channel tetramerisation domain containing 6 KCASH3, MGC27385 Yes No Comparative Toxicogenomics Database:200845, Ensembl:ENSG00000168301, GeneCard:KCTD6, HGNC:HGNC:22235, HumanCyc Gene:HS09731, ModBase:Q8NC69, NCBI Gene:200845, RefSeq DNA:NT_022517, RefSeq Protein:NP_001121686, RefSeq Protein:NP_699162, RefSeq RNA:NM_001128214, RefSeq RNA:NM_153331, UniProtKB:Q8NC69 No chr3 58477823 58488087 58492096 58502360 +PA134884591 154881 HGNC:21957 ENSG00000243335 potassium channel tetramerization domain containing 7 KCTD7 potassium channel tetramerisation domain containing 7 CLN14, EPM3, FLJ32069 Yes No Comparative Toxicogenomics Database:154881, Ensembl:ENSG00000243335, GeneCard:KCTD7, HGNC:HGNC:21957, ModBase:Q96MP8, NCBI Gene:154881, OMIM:611725, OMIM:611726, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001161433, RefSeq Protein:NP_694578, RefSeq RNA:NM_001167961, RefSeq RNA:NM_153033, UniProtKB:Q96MP8 No chr7 66093868 66113964 66628881 66643229 +PA134909779 386617 HGNC:22394 ENSG00000183783 potassium channel tetramerization domain containing 8 KCTD8 potassium channel tetramerisation domain containing 8 Yes No Ensembl:ENSG00000183783, GeneCard:KCTD8, HGNC:HGNC:22394, ModBase:Q6ZWB6, NCBI Gene:386617, RefSeq DNA:NT_006238, RefSeq Protein:NP_938167, RefSeq RNA:NM_198353, UniProtKB:Q6ZWB6 No chr4 44175920 44450824 44173903 44448885 +PA134869993 54793 HGNC:22401 ENSG00000104756 potassium channel tetramerization domain containing 9 KCTD9 potassium channel tetramerisation domain containing 9 BTBD27, FLJ20038 Yes No Comparative Toxicogenomics Database:54793, Ensembl:ENSG00000104756, GeneCard:KCTD9, HGNC:HGNC:22401, HumanCyc Gene:HS12558, ModBase:Q7L273, NCBI Gene:54793, RefSeq DNA:NT_167187, RefSeq Protein:NP_060104, RefSeq RNA:NM_017634, UniProtKB:Q7L273 No chr8 25285363 25315984 25424357 25458468 +PA142671637 100422273 HGNC:21428 ENSG00000225014 potassium channel tetramerisation domain containing 9 pseudogene 1 KCTD9P1 HsT38306 Yes No Ensembl:ENSG00000225014, GeneCard:KCTD9P1, HGNC:HGNC:21428, NCBI Gene:100422273 No chr17 20015137 20016300 20111824 20112987 +PA30083 10945 HGNC:6304 ENSG00000105438 KDEL endoplasmic reticulum protein retention receptor 1 KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 ERD2, ERD2.1, HDEL Yes No Comparative Toxicogenomics Database:10945, Ensembl:ENSG00000105438, GenAtlas:KDELR1, GeneCard:KDELR1, HGNC:HGNC:6304, HumanCyc Gene:HS02740, ModBase:P24390, NCBI Gene:10945, OMIM:131235, RefSeq DNA:NT_011109, RefSeq Protein:NP_006792, RefSeq RNA:NM_006801, UCSC Genome Browser:NM_006801, UniProtKB:P24390 No chr19 48885827 48894810 48382570 48391553 +PA30084 11014 HGNC:6305 ENSG00000136240 KDEL endoplasmic reticulum protein retention receptor 2 KDELR2 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 ELP-1, ERD2.2 Yes No Comparative Toxicogenomics Database:11014, Ensembl:ENSG00000136240, GenAtlas:KDELR2, GeneCard:KDELR2, HGNC:HGNC:6305, HumanCyc Gene:HS06135, ModBase:P33947, NCBI Gene:11014, OMIM:609024, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001094073, RefSeq Protein:NP_006845, RefSeq RNA:NM_001100603, RefSeq RNA:NM_006854, UCSC Genome Browser:NM_006854, UniProtKB:P33947 No chr7 6500712 6523849 6461081 6484218 +PA30085 11015 HGNC:6306 ENSG00000100196 KDEL endoplasmic reticulum protein retention receptor 3 KDELR3 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 Yes No Comparative Toxicogenomics Database:11015, Ensembl:ENSG00000100196, GenAtlas:KDELR3, GeneCard:KDELR3, HGNC:HGNC:6306, HumanCyc Gene:HS01996, ModBase:O43731, NCBI Gene:11015, RefSeq DNA:NT_011520, RefSeq Protein:NP_006846, RefSeq Protein:NP_057839, RefSeq RNA:NM_006855, RefSeq RNA:NM_016657, UCSC Genome Browser:NM_006855, UniProtKB:O43731 No chr22 38864067 38879452 38468062 38483447 +PA142672421 126695 HGNC:26624 ENSG00000175707 keratinocyte differentiation factor 1 KDF1 chromosome 1 open reading frame 172 C1orf172, FLJ34633, RP11-344H11.3 Yes No Ensembl:ENSG00000175707, GeneCard:C1orf172, HGNC:HGNC:26624, HumanCyc Gene:HS16493, NCBI Gene:126695, RefSeq DNA:NT_004610, RefSeq Protein:NP_689578, RefSeq RNA:NM_152365, UniProtKB:Q8NAX2 No chr1 27276047 27286901 26949556 26960484 +PA165751392 23028 HGNC:29079 ENSG00000004487 lysine demethylase 1A KDM1A Lysine-specific histone demethylase 1A, lysine (K)-specific demethylase 1A AOF2, BHC110, KDM1, KIAA0601, LSD1 Yes No Ensembl:ENSG00000004487, GeneCard:KDM1A, HGNC:HGNC:29079, NCBI Gene:23028, OMIM:609132, RefSeq DNA:NT_004610, RefSeq Protein:NP_001009999, RefSeq Protein:NP_055828, RefSeq RNA:NM_001009999, RefSeq RNA:NM_015013, UniProtKB:O60341 No chr1 23345937 23410184 23019443 23083691 +PA165617946 221656 HGNC:21577 ENSG00000165097 lysine demethylase 1B KDM1B lysine (K)-specific demethylase 1B AOF1, C6orf193, FLJ33898, FLJ34109, FLJ43328, LSD2, bA204B7.3, dJ298J15.2 Yes No Comparative Toxicogenomics Database:221656, Ensembl:ENSG00000165097, GeneCard:KDM1B, HGNC:HGNC:21577, HumanCyc Gene:HS09184, ModBase:Q8NB78, NCBI Gene:221656, OMIM:613081, RefSeq DNA:NT_007592, RefSeq Protein:NP_694587, RefSeq RNA:NM_153042, UniProtKB:A2A2C6, UniProtKB:Q8NB78 No chr6 18155619 18224085 18155388 18223854 +PA164721195 22992 HGNC:13606 ENSG00000173120 lysine demethylase 2A KDM2A F-box protein FBL11, jumonji C domain-containing histone demethylase 1A, lysine (K)-specific demethylase 2A CXXC8, DKFZP434M1735, FBL11, FBL7, FBXL11, FLJ00115, JHDM1A, KIAA1004, LILINA Yes No Ensembl:ENSG00000173120, GeneCard:KDM2A, HGNC:HGNC:13606, HumanCyc Gene:HS10620, NCBI Gene:22992, OMIM:605657, RefSeq DNA:NT_167190, RefSeq Protein:NP_036440, RefSeq RNA:NM_012308, RefSeq RNA:NR_027473, UniProtKB:Q9Y2K7 No chr11 66886740 67025553 67119210 67258082 +PA164721242 84678 HGNC:13610 ENSG00000089094 lysine demethylase 2B KDM2B jumonji C domain-containing histone demethylase 1B, lysine (K)-specific demethylase 2B CXXC2, FBXL10, Fbl10, JHDM1B, PCCX2 Yes No Ensembl:ENSG00000089094, GeneCard:KDM2B, HGNC:HGNC:13610, NCBI Gene:84678, OMIM:609078, RefSeq DNA:NT_009775, RefSeq Protein:NP_001005366, RefSeq Protein:NP_115979, RefSeq RNA:NM_001005366, RefSeq RNA:NM_032590, UniProtKB:A8MRS1, UniProtKB:Q8NHM5 No chr12 121866899 122019110 121402289 121582268 +PA164721293 55818 HGNC:20815 ENSG00000115548 lysine demethylase 3A KDM3A jumonji C domain-containing histone demethylase 2A, lysine (K)-specific demethylase 3A JHMD2A, JMJD1, JMJD1A, KIAA0742, TSGA Yes No Comparative Toxicogenomics Database:55818, Ensembl:ENSG00000115548, GeneCard:KDM3A, HGNC:HGNC:20815, HumanCyc Gene:HS12848, NCBI Gene:55818, OMIM:611512, RefSeq DNA:NT_022184, RefSeq Protein:NP_001140160, RefSeq Protein:NP_060903, RefSeq RNA:NM_001146688, RefSeq RNA:NM_018433, UniProtKB:Q9Y4C1 No chr2 86668271 86719839 86440647 86492716 +PA25918 51780 HGNC:1337 ENSG00000120733 lysine demethylase 3B KDM3B lysine (K)-specific demethylase 3B C5orf7, JMJD1B, KIAA1082, NET22 Yes No Ensembl:ENSG00000120733, GenAtlas:JMJD1B, GeneCard:JMJD1B, GeneCard:KDM3B, HGNC:HGNC:1337, HumanCyc Gene:HS13003, ModBase:Q7LBC6, NCBI Gene:51780, OMIM:609373, RefSeq DNA:NT_034772, RefSeq Protein:NP_057688, RefSeq RNA:NM_016604, UCSC Genome Browser:NM_016604, UniProtKB:Q7LBC6 No chr5 137688285 137772716 138352596 138437027 +PA164721403 9682 HGNC:22978 ENSG00000066135 lysine demethylase 4A KDM4A jumonji C domain-containing histone demethylase 3A, lysine (K)-specific demethylase 4A, tudor domain containing 14A JHDM3A, JMJD2, JMJD2A, KIAA0677, TDRD14A Yes Yes Comparative Toxicogenomics Database:9682, Ensembl:ENSG00000066135, GeneCard:KDM4A, HGNC:HGNC:22978, HumanCyc Gene:HS00868, ModBase:O75164, NCBI Gene:9682, OMIM:609764, RefSeq DNA:NT_032977, RefSeq Protein:NP_055478, RefSeq RNA:NM_014663, UniProtKB:O75164 No chr1 44115797 44171189 43650118 43705518 +PA164721452 23030 HGNC:29136 ENSG00000127663 lysine demethylase 4B KDM4B lysine (K)-specific demethylase 4B, tudor domain containing 14B JMJD2B, KIAA0876, TDRD14B Yes No Ensembl:ENSG00000127663, GeneCard:KDM4B, HGNC:HGNC:29136, NCBI Gene:23030, OMIM:609765, RefSeq DNA:NT_011255, RefSeq Protein:NP_055830, RefSeq RNA:NM_015015, UniProtKB:O94953 No chr19 4969123 5153609 4969112 5153603 +PA164721503 23081 HGNC:17071 ENSG00000107077 lysine demethylase 4C KDM4C lysine (K)-specific demethylase 4C, tudor domain containing 14C GASC1, JMJD2C, KIAA0780, TDRD14C Yes No Ensembl:ENSG00000107077, GeneCard:KDM4C, HGNC:HGNC:17071, HumanCyc Gene:HS02969, NCBI Gene:23081, OMIM:605469, RefSeq DNA:NT_008413, RefSeq Protein:NP_001140166, RefSeq Protein:NP_001140167, RefSeq Protein:NP_001140168, RefSeq Protein:NP_055876, RefSeq RNA:NM_001146694, RefSeq RNA:NM_001146695, RefSeq RNA:NM_001146696, RefSeq RNA:NM_015061, UniProtKB:B4E142, UniProtKB:B4E1Y4, UniProtKB:B4E239, UniProtKB:B7Z3V6, UniProtKB:Q9H3R0 No chr9 6720863 7175648 6720863 7175648 +PA164721552 55693 HGNC:25498 ENSG00000186280 lysine demethylase 4D KDM4D lysine (K)-specific demethylase 4D FLJ10251, JMJD2D Yes No Ensembl:ENSG00000186280, GeneCard:KDM4D, HGNC:HGNC:25498, NCBI Gene:55693, OMIM:609766, RefSeq DNA:NT_167190, RefSeq Protein:NP_060509, RefSeq RNA:NM_018039, UniProtKB:Q6B0I6 No chr11 94706845 94732678 94973681 94999514 +PA165543440 390245 HGNC:37098 ENSG00000235268 lysine demethylase 4E KDM4E lysine (K)-specific demethylase 4E JMJD2E, KDM4DL, KDM5E Yes No Ensembl:ENSG00000235268, GeneCard:KDM4DL, HGNC:HGNC:37098, NCBI Gene:390245, RefSeq DNA:NT_167190, RefSeq Protein:NP_001155102, RefSeq Protein:XP_002343127, RefSeq Protein:XP_002344652, RefSeq Protein:XP_002347300, RefSeq RNA:NM_001161630, RefSeq RNA:XM_002343086, RefSeq RNA:XM_002344611, RefSeq RNA:XM_002347259, UniProtKB:B2RXH2 No chr11 94758422 94760760 95025258 95027596 +PA166351929 100129053 HGNC:52413 lysine demethylase 4F KDM4F JMJD2F Yes No HGNC:HGNC:52413, NCBI Gene:100129053 No 0 0 0 0 +PA34250 5927 HGNC:9886 ENSG00000073614 lysine demethylase 5A KDM5A lysine (K)-specific demethylase 5A JARID1A, RBBP2 Yes No Comparative Toxicogenomics Database:5927, Ensembl:ENSG00000073614, GenAtlas:JARID1A, GeneCard:JARID1A, GeneCard:KDM5A, HGNC:HGNC:9886, HumanCyc Gene:HS01108, ModBase:P29375, NCBI Gene:5927, OMIM:180202, RefSeq DNA:NT_009759, RefSeq Protein:NP_001036068, RefSeq Protein:NP_005047, RefSeq RNA:NM_001042603, RefSeq RNA:NM_005056, UCSC Genome Browser:NM_005056, UniProtKB:P29375 No chr12 389223 498620 280057 389455 +PA164721626 10765 HGNC:18039 ENSG00000117139 lysine demethylase 5B KDM5B """cancer/testis antigen 31"", ""lysine (K)-specific demethylase 5B"", ""protein phosphatase 1, regulatory subunit 98""" CT31, JARID1B, PLU-1, PPP1R98, RBBP2H1A Yes No Ensembl:ENSG00000117139, GeneCard:KDM5B, HGNC:HGNC:18039, HumanCyc Gene:HS04097, NCBI Gene:10765, OMIM:605393, RefSeq DNA:NT_004487, RefSeq Protein:NP_006609, RefSeq RNA:NM_006618, UniProtKB:Q9UFD3, UniProtKB:Q9UGL1 No chr1 202696532 202777549 202725185 202809470 +PA35964 8242 HGNC:11114 ENSG00000126012 lysine demethylase 5C KDM5C lysine (K)-specific demethylase 5C DXS1272E, JARID1C, MRX13, SMCX, XE169 Yes No Comparative Toxicogenomics Database:8242, Ensembl:ENSG00000126012, GenAtlas:SMCX, GeneCard:KDM5C, GeneCard:SMCX, HGNC:HGNC:11114, HumanCyc Gene:HS04990, NCBI Gene:8242, OMIM:300534, OMIM:314690, RefSeq DNA:NG_008085, RefSeq DNA:NG_008085.1, RefSeq DNA:NT_011630, RefSeq DNA:NT_011630.14, RefSeq Protein:NP_001140174, RefSeq Protein:NP_004178, RefSeq Protein:NP_004178.2, RefSeq RNA:NM_001146702, RefSeq RNA:NM_004187, RefSeq RNA:NM_004187.2, UCSC Genome Browser:NM_004187, UniProtKB:B4E3I2, UniProtKB:P41229 No chrX 53220503 53254604 53159735 53225422 +PA35965 8284 HGNC:11115 ENSG00000012817 lysine demethylase 5D KDM5D lysine (K)-specific demethylase 5D HY, HYA, JARID1D, KIAA0234, SMCY Yes No Ensembl:ENSG00000012817, GenAtlas:SMCY, GeneCard:KDM5D, GeneCard:SMCY, HGNC:HGNC:11115, HumanCyc Gene:HS00337, NCBI Gene:8284, OMIM:426000, RefSeq DNA:NT_011875, RefSeq DNA:NT_011875.11, RefSeq Protein:NP_001140177, RefSeq Protein:NP_001140178, RefSeq Protein:NP_004644, RefSeq Protein:NP_004644.2, RefSeq RNA:NM_001146705, RefSeq RNA:NM_001146706, RefSeq RNA:NM_004653, RefSeq RNA:NM_004653.3, UCSC Genome Browser:NM_004653, UniProtKB:Q9BY66 No chrY 21867301 21906825 19692495 19745347 +PA37262 7403 HGNC:12637 ENSG00000147050 lysine demethylase 6A KDM6A lysine (K)-specific demethylase 6A UTX Yes No Comparative Toxicogenomics Database:7403, Ensembl:ENSG00000147050, GenAtlas:UTX, GeneCard:KDM6A, GeneCard:UTX, HGNC:HGNC:12637, ModBase:O15550, NCBI Gene:7403, OMIM:300128, RefSeq DNA:NG_016260, RefSeq DNA:NT_079573, RefSeq Protein:NP_066963, RefSeq RNA:NM_021140, UCSC Genome Browser:NM_021140, UniProtKB:O15550, UniProtKB:Q59HG3 No chrX 44732419 44972024 44873175 45112612 +PA165431973 23135 HGNC:29012 ENSG00000132510 lysine demethylase 6B KDM6B lysine (K)-specific demethylase 6B JMJD3, KIAA0346 Yes No Comparative Toxicogenomics Database:23135, Ensembl:ENSG00000132510, GeneCard:KDM6B, HGNC:HGNC:29012, NCBI Gene:23135, OMIM:611577, RefSeq DNA:NT_010718, RefSeq Protein:NP_001073893, RefSeq RNA:NM_001080424, RefSeq RNA:XM_043272, RefSeq RNA:XM_933967, RefSeq RNA:XM_941783, RefSeq RNA:XM_945439 No chr17 7737521 7758118 7834210 7854800 +PA162392512 80853 HGNC:22224 ENSG00000006459 lysine demethylase 7A KDM7A jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae), lysine (K)-specific demethylase 7A JHDM1D, KIAA1718 Yes No Ensembl:ENSG00000006459, GeneCard:JHDM1D, HGNC:HGNC:22224, ModBase:Q6ZMT4, NCBI Gene:80853, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_085150, RefSeq RNA:NM_030647, UniProtKB:Q6ZMT4 No chr7 139784546 139876741 140084746 140176941 +PA143485510 79831 HGNC:25840 ENSG00000155666 lysine demethylase 8 KDM8 JmjC arginyl-hydroxylase, lysine (K)-specific demethylase 8 FLJ13798, JMJD5 Yes No Ensembl:ENSG00000155666, GeneCard:JMJD5, HGNC:HGNC:25840, HumanCyc Gene:HS14578, ModBase:Q8N371, NCBI Gene:79831, OMIM:611917, RefSeq DNA:NT_010393, RefSeq Protein:NP_001138820, RefSeq Protein:NP_079049, RefSeq RNA:NM_001145348, RefSeq RNA:NM_024773, UniProtKB:B4DLU9, UniProtKB:Q8N371 No chr16 27214807 27233089 27203477 27222305 +PA30086 3791 HGNC:6307 ENSG00000128052 kinase insert domain receptor KDR fetal liver kinase 1, kinase insert domain receptor (a type III receptor tyrosine kinase), vascular endothelial growth factor receptor 2 CD309, FLK1, VEGFR, VEGFR2 Yes Yes Comparative Toxicogenomics Database:3791, Ensembl:ENSG00000128052, GenAtlas:KDR, GeneCard:KDR, HGNC:HGNC:6307, HumanCyc Gene:HS05156, ModBase:P35968, NCBI Gene:3791, OMIM:191306, OMIM:602089, RefSeq DNA:NG_012004, RefSeq DNA:NT_022853, RefSeq Protein:NP_002244, RefSeq RNA:NM_002253, UCSC Genome Browser:NM_002253, UniProtKB:P35968 No chr4 55944426 55991762 55078259 55125595 +PA162392777 2531 HGNC:4021 ENSG00000119537 3-ketodihydrosphingosine reductase KDSR """3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1""" DHSR, FVT1, SDR35C1 Yes No Ensembl:ENSG00000119537, GeneCard:KDSR, HGNC:HGNC:4021, HumanCyc Gene:HS04306, ModBase:Q06136, NCBI Gene:2531, OMIM:136440, RefSeq DNA:NT_025028, RefSeq Protein:NP_002026, RefSeq RNA:NM_002035, UniProtKB:Q06136 No chr18 60994971 61034506 63327736 63367273 +PA134887774 9817 HGNC:23177 ENSG00000079999 kelch like ECH associated protein 1 KEAP1 kelch-like ECH-associated protein 1, kelch-like family member 19 INrf2, KIAA0132, KLHL19, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454 Yes No Comparative Toxicogenomics Database:9817, Ensembl:ENSG00000079999, GeneCard:KEAP1, HGNC:HGNC:23177, HumanCyc Gene:HS01344, ModBase:Q14145, NCBI Gene:9817, OMIM:606016, RefSeq DNA:NT_011295, RefSeq Protein:NP_036421, RefSeq Protein:NP_987096, RefSeq RNA:NM_012289, RefSeq RNA:NM_203500, UniProtKB:Q14145 No chr19 10596796 10614054 10486120 10503378 +PA30087 3792 HGNC:6308 ENSG00000197993 Kell metallo-endopeptidase (Kell blood group) KEL Kell blood group, metallo-endopeptidase CD238, ECE3 Yes No Comparative Toxicogenomics Database:3792, Ensembl:ENSG00000197993, GenAtlas:KEL, GeneCard:KEL, HGNC:HGNC:6308, ModBase:P23276, NCBI Gene:3792, OMIM:110900, RefSeq DNA:NG_007492, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_000411, RefSeq RNA:NM_000420, UCSC Genome Browser:NM_000420, UniProtKB:P23276 No chr7 142638201 142659503 142941114 142962416 +PA30088 11081 HGNC:6309 ENSG00000139330 keratocan KERA keratocan proteoglycan CNA2, SLRR2B Yes No Comparative Toxicogenomics Database:11081, Ensembl:ENSG00000139330, GenAtlas:KERA, GeneCard:KERA, HGNC:HGNC:6309, HumanCyc Gene:HS06609, ModBase:O60938, NCBI Gene:11081, OMIM:217300, OMIM:603288, RefSeq DNA:NG_021223, RefSeq DNA:NT_029419, RefSeq Protein:NP_008966, RefSeq RNA:NM_007035, UCSC Genome Browser:NM_007035, UniProtKB:O60938 No chr12 91444268 91452131 91050491 91058354 +PA31023 92259 HGNC:16631 ENSG00000134056 alpha-ketoglutarate dehydrogenase subunit 4 KGD4 mitochondrial ribosomal protein S36 DC47, MRP-S36, MRPS36 Yes No Comparative Toxicogenomics Database:92259, Ensembl:ENSG00000134056, GenAtlas:MRPS36, GeneCard:MRPS36, HGNC:HGNC:16631, HumanCyc Gene:HS05809, NCBI Gene:92259, OMIM:611996, RefSeq DNA:NT_006713, RefSeq Protein:NP_150597, RefSeq RNA:NM_033281, UCSC Genome Browser:NM_033281, UniProtKB:P82909 No chr5 68513573 68525985 69217746 69230158 +PA162392802 80759 HGNC:21366 ENSG00000135314 KH domain containing 1 KHDC1 KH homology domain containing 1 C6orf147, C6orf148, Em:AC019205.8, MGC10818, NDG1, bA257K9.4 Yes No Ensembl:ENSG00000135314, GeneCard:KHDC1, HGNC:HGNC:21366, HumanCyc Gene:HS13572, NCBI Gene:80759, OMIM:611688, RefSeq DNA:NT_007299, RefSeq Protein:NP_085045, RefSeq RNA:NM_030568, UniProtKB:Q4VXA5, UniProtKB:Q5JSQ7 No chr6 73951037 74019938 73241314 73310365 +PA165617988 100129128 HGNC:37274 ENSG00000256980 KH domain containing 1 like KHDC1L KH homology domain containing 1-like RP11-257K9.7 Yes No Ensembl:ENSG00000256980, GeneCard:KHDC1L, HGNC:HGNC:37274, NCBI Gene:100129128, RefSeq DNA:NT_007299, RefSeq Protein:NP_001119535, RefSeq RNA:NM_001126063, UniProtKB:Q5JSQ8 No chr6 73933267 73935175 73223544 73225452 +PA162380388 154288 HGNC:33699 ENSG00000203908 KH domain containing 3 like, subcortical maternal complex member KHDC3L """ES cell associated transcript 1"", ""KH domain containing 3-like, subcortical maternal complex member""" C6orf221, ECAT1 Yes No Ensembl:ENSG00000203908, GeneCard:C6orf221, HGNC:HGNC:33699, ModBase:Q587J8, NCBI Gene:154288, OMIM:611687, RefSeq DNA:NT_007299, RefSeq Protein:NP_001017361, RefSeq RNA:NM_001017361, UniProtKB:Q587J8 No chr6 74072400 74073898 73362677 73364175 +PA142671618 22889 HGNC:29145 ENSG00000132680 KH domain containing 4, pre-mRNA splicing factor KHDC4 BLOM7, KIAA0907, SNORA80EHG Yes No Ensembl:ENSG00000132680, GeneCard:KIAA0907, HGNC:HGNC:29145, HumanCyc Gene:HS13439, ModBase:Q7Z7F0, NCBI Gene:22889, RefSeq DNA:NT_004487, RefSeq Protein:NP_055764, RefSeq RNA:NM_014949, UniProtKB:Q7Z7F0 No chr1 155882834 155904209 155913043 155934442 +PA30092 10657 HGNC:18116 ENSG00000121774 KH RNA binding domain containing, signal transduction associated 1 KHDRBS1 """GAP-associated tyrosine phosphoprotein p62"", ""GAP-associated tyrosine phosphoprotein p62 (Sam68)"", ""KH domain containing, RNA binding, signal transduction associated 1"", ""Src-associated in mitosis 68 kDa protein""" FLJ34027, Sam68, p62 Yes No Comparative Toxicogenomics Database:10657, Ensembl:ENSG00000121774, GenAtlas:KHDRBS1, GeneCard:KHDRBS1, HGNC:HGNC:18116, HumanCyc Gene:HS04522, ModBase:Q07666, NCBI Gene:10657, OMIM:602489, RefSeq DNA:NT_032977, RefSeq Protein:NP_006550, RefSeq RNA:NM_006559, UCSC Genome Browser:NM_006559, UniProtKB:Q07666 No chr1 32479295 32526460 32013694 32060859 +PA30093 202559 HGNC:18114 ENSG00000112232 KH RNA binding domain containing, signal transduction associated 2 KHDRBS2 """KH domain containing, RNA binding, signal transduction associated 2"", ""Sam68-like mammalian protein 1""" KHDRBS2-OT, KHDRBS2-OT1, MGC26664, SLM-1, SLM1 Yes No Ensembl:ENSG00000112232, GenAtlas:KHDRBS2, GeneCard:KHDRBS2, HGNC:HGNC:18114, HumanCyc Gene:HS03536, ModBase:Q5VWX1, NCBI Gene:202559, OMIM:610487, RefSeq DNA:NT_007299, RefSeq Protein:NP_689901, RefSeq RNA:NM_152688, UniProtKB:Q5VWX1 No chr6 62389865 62996100 61542679 62286227 +PA30094 10656 HGNC:18117 ENSG00000131773 KH RNA binding domain containing, signal transduction associated 3 KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 Etle, SALP, SLM-2, SLM2, T-STAR, etoile Yes Yes Comparative Toxicogenomics Database:10656, Ensembl:ENSG00000131773, GenAtlas:KHDRBS3, GeneCard:KHDRBS3, HGNC:HGNC:18117, HumanCyc Gene:HS05564, ModBase:O75525, NCBI Gene:10656, OMIM:610421, RefSeq DNA:NT_008046, RefSeq Protein:NP_006549, RefSeq RNA:NM_006558, UCSC Genome Browser:NM_006558, UniProtKB:O75525 No chr8 136469702 136669068 135457461 135656516 +PA30095 3795 HGNC:6315 ENSG00000138030 ketohexokinase KHK fructokinase, ketohexokinase (fructokinase) Yes No Comparative Toxicogenomics Database:3795, Ensembl:ENSG00000138030, GenAtlas:KHK, GeneCard:KHK, HGNC:HGNC:6315, HumanCyc Gene:HS06437, ModBase:P50053, NCBI Gene:3795, OMIM:229800, RefSeq DNA:NG_012199, RefSeq DNA:NT_022184, RefSeq Protein:NP_000212, RefSeq Protein:NP_006479, RefSeq RNA:NM_000221, RefSeq RNA:NM_006488, UCSC Genome Browser:NM_000221, UniProtKB:P50053, UniProtKB:Q6IBK2 No chr2 27309611 27323619 27086738 27100751 +PA165479143 23351 HGNC:20166 ENSG00000100441 KH and NYN domain containing KHNYN KIAA0323 Yes No Ensembl:ENSG00000100441, GeneCard:KHNYN, HGNC:HGNC:20166, NCBI Gene:23351, RefSeq DNA:NT_026437, RefSeq Protein:NP_056114, RefSeq RNA:NM_015299, UniProtKB:O15037 No chr14 24898882 24910548 24423186 24441342 +PA30097 8570 HGNC:6316 ENSG00000088247 KH-type splicing regulatory protein KHSRP FUSE binding protein 2 FBP2, FUBP2, KSRP Yes No Comparative Toxicogenomics Database:8570, Ensembl:ENSG00000088247, GenAtlas:KHSRP, GeneCard:KHSRP, HGNC:HGNC:6316, HumanCyc Gene:HS01593, NCBI Gene:8570, OMIM:603445, RefSeq DNA:NT_011255, RefSeq Protein:NP_003676, RefSeq RNA:NM_003685, UCSC Genome Browser:NM_003685, UniProtKB:Q92945 No chr19 6413115 6424822 6413104 6424811 +PA128394552 9674 HGNC:28950 ENSG00000235750 KIAA0040 KIAA0040 Yes No Comparative Toxicogenomics Database:9674, Ensembl:ENSG00000235750, GeneCard:KIAA0040, HGNC:HGNC:28950, NCBI Gene:9674, RefSeq DNA:NT_004487, RefSeq Protein:NP_001156365, RefSeq Protein:NP_001156366, RefSeq Protein:NP_001156367, RefSeq Protein:NP_055471, RefSeq RNA:NM_001162893, RefSeq RNA:NM_001162894, RefSeq RNA:NM_001162895, RefSeq RNA:NM_014656, RefSeq RNA:NR_015350, UCSC Genome Browser:NM_014656, UniProtKB:Q15053 No chr1 175126123 175162229 175156986 175193300 +PA162392815 9808 HGNC:22191 ENSG00000122548 KIAA0087 KIAA0087 Yes No Ensembl:ENSG00000122548, GeneCard:KIAA0087, HGNC:HGNC:22191, HumanCyc Gene:HS13059, NCBI Gene:9808, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_022006 No chr7 26572740 26578444 26533121 26538825 +PA162392816 9778 HGNC:28992 ENSG00000170871 KIAA0232 KIAA0232 Yes No Ensembl:ENSG00000170871, GeneCard:KIAA0232, HGNC:HGNC:28992, NCBI Gene:9778, RefSeq DNA:NT_006051, RefSeq Protein:NP_001094060, RefSeq Protein:NP_055558, RefSeq RNA:NM_001100590, RefSeq RNA:NM_014743, UniProtKB:A5YKK5, UniProtKB:Q92628 No chr4 6784459 6885899 6782732 6884172 +PA134936721 9856 HGNC:21580 ENSG00000137261 KIAA0319 KIAA0319 neuronal migration DYX2, NMIG Yes No Comparative Toxicogenomics Database:9856, Ensembl:ENSG00000137261, GeneCard:KIAA0319, HGNC:HGNC:21580, HumanCyc Gene:HS13669, ModBase:Q5VV43, NCBI Gene:9856, OMIM:600202, OMIM:609269, RefSeq DNA:NG_016206, RefSeq DNA:NT_007592, RefSeq Protein:NP_001161846, RefSeq Protein:NP_001161847, RefSeq Protein:NP_001161848, RefSeq Protein:NP_001161849, RefSeq Protein:NP_055624, RefSeq RNA:NM_001168374, RefSeq RNA:NM_001168375, RefSeq RNA:NM_001168376, RefSeq RNA:NM_001168377, RefSeq RNA:NM_014809, UniProtKB:B7ZML3, UniProtKB:Q5VV43 No chr6 24544332 24646383 24540131 24646211 +PA142671625 79932 HGNC:30071 ENSG00000142687 KIAA0319 like KIAA0319L AAV receptor, KIAA0319-like AAVR, KIAA1837 Yes No Ensembl:ENSG00000142687, GeneCard:KIAA0319L, HGNC:HGNC:30071, HumanCyc Gene:HS13936, ModBase:Q8WYZ5, NCBI Gene:79932, RefSeq DNA:NT_032977, RefSeq Protein:NP_079150, RefSeq Protein:NP_872628, RefSeq RNA:NM_024874, RefSeq RNA:NM_182686, UniProtKB:Q8IZA0 No chr1 35899091 36023037 35433490 35557670 +PA134883396 9729 HGNC:21636 ENSG00000189367 KIAA0408 KIAA0408 Yes No Ensembl:ENSG00000189367, GeneCard:KIAA0408, HGNC:HGNC:21636, ModBase:Q6ZU52, NCBI Gene:9729, RefSeq DNA:NT_025741, RefSeq Protein:NP_055517, RefSeq RNA:NM_014702, UniProtKB:Q6ZU52 No chr6 127759551 127780535 127438406 127459390 +PA134951520 9764 HGNC:29058 ENSG00000135709 KIAA0513 KIAA0513 Yes No Ensembl:ENSG00000135709, GeneCard:KIAA0513, HGNC:HGNC:29058, HumanCyc Gene:HS13588, ModBase:O60268, NCBI Gene:9764, OMIM:611675, RefSeq DNA:NT_010498, RefSeq Protein:NP_055547, RefSeq RNA:NM_014732, UniProtKB:O60268 No chr16 85061374 85127836 85027709 85094230 +PA134992213 9786 HGNC:19960 ENSG00000100578 KIAA0586 KIAA0586 JBTS23, Talpid3 Yes No Ensembl:ENSG00000100578, GeneCard:KIAA0586, HGNC:HGNC:19960, HumanCyc Gene:HS12415, ModBase:Q9BVV6, NCBI Gene:9786, OMIM:610178, RefSeq DNA:NT_026437, RefSeq Protein:NP_055564, RefSeq RNA:NM_014749, UniProtKB:Q6UV20 No chr14 58894103 59015549 58427385 58548831 +PA142671615 9851 HGNC:29110 ENSG00000198920 KIAA0753 KIAA0753 OFD1 and FOPNL interacting protein, OFD1 and FOR20 interacting protein, moonraker MNR, OFIP Yes No Ensembl:ENSG00000198920, GeneCard:KIAA0753, HGNC:HGNC:29110, NCBI Gene:9851, RefSeq DNA:NT_010718, RefSeq Protein:NP_055619, RefSeq RNA:NM_014804, UniProtKB:Q2KHM9 No chr17 6481645 6545066 6578151 6640927 +PA128394598 643314 HGNC:29111 KIAA0754 KIAA0754 Yes No Comparative Toxicogenomics Database:643314, GeneCard:KIAA0754, HGNC:HGNC:29111, NCBI Gene:643314, RefSeq DNA:NT_032977, RefSeq Protein:NP_055853, RefSeq RNA:NM_015038, UniProtKB:O94854 No chr1 39875176 39882154 39409504 39416482 +PA162380116 285600 HGNC:28532 ENSG00000185261 KIAA0825 KIAA0825 C5orf36, DKFZp686F0372, MGC34713 Yes No Ensembl:ENSG00000185261, GeneCard:C5orf36, HGNC:HGNC:28532, ModBase:Q8IV33, NCBI Gene:285600, RefSeq DNA:NT_034772, RefSeq Protein:NP_001139150, RefSeq Protein:NP_775936, RefSeq RNA:NM_001145678, RefSeq RNA:NM_173665, UniProtKB:Q8IV33 No chr5 93486556 93954309 94150851 94618604 +PA128394623 23313 HGNC:1314 ENSG00000100364 KIAA0930 KIAA0930 C22orf9, bK268H5.C22.1 Yes No Ensembl:ENSG00000100364, GenAtlas:C22orf9, GeneCard:C22orf9, HGNC:HGNC:1314, NCBI Gene:23313, RefSeq DNA:NT_011520, RefSeq Protein:NP_001009880, RefSeq Protein:NP_056079, RefSeq RNA:NM_001009880, RefSeq RNA:NM_015264, UniProtKB:Q6ICG6 No chr22 45588123 45636650 45192242 45240769 +PA142671620 23285 HGNC:29192 KIAA1107 KIAA1107 Yes No GeneCard:KIAA1107, HGNC:HGNC:29192, NCBI Gene:23285, RefSeq DNA:NT_032977, RefSeq Protein:NP_056052, RefSeq RNA:NM_015237, UniProtKB:Q9UPP5 No chr1 92632609 92650280 92167052 92188509 +PA142671622 57456 HGNC:29198 ENSG00000163807 KIAA1143 KIAA1143 Yes No Ensembl:ENSG00000163807, GeneCard:KIAA1143, HGNC:HGNC:29198, ModBase:Q96AT1, NCBI Gene:57456, RefSeq DNA:NT_022517, RefSeq Protein:NP_065747, RefSeq RNA:NM_020696, UniProtKB:Q96AT1 No chr3 44790236 44803173 44748744 44761681 +PA143485516 57179 HGNC:29209 ENSG00000122203 KIAA1191 KIAA1191 p60MONOX brain-derived rescue factor FLJ21022, p33MONOX, p60MONOX Yes No Ensembl:ENSG00000122203, GeneCard:KIAA1191, HGNC:HGNC:29209, HumanCyc Gene:HS13046, ModBase:Q96A73, NCBI Gene:57179, RefSeq DNA:NT_023133, RefSeq Protein:NP_001073152, RefSeq Protein:NP_001073153, RefSeq Protein:NP_065177, RefSeq RNA:NM_001079684, RefSeq RNA:NM_001079685, RefSeq RNA:NM_020444, UniProtKB:Q96A73 No chr5 175773065 175788809 176346061 176361865 +PA164721837 57481 HGNC:29218 ENSG00000250423 KIAA1210 KIAA1210 Yes No Ensembl:ENSG00000250423, GeneCard:KIAA1210, HGNC:HGNC:29218, NCBI Gene:57481, RefSeq DNA:NT_011786, RefSeq Protein:NP_065772, RefSeq RNA:NM_020721, UniProtKB:Q9ULL0 No chrX 118212598 118284542 119078635 119151082 +PA134893343 56243 HGNC:25428 ENSG00000120549 KIAA1217 KIAA1217 sickle tail DKFZP761L0424, ETL4, SKT Yes No Ensembl:ENSG00000120549, GeneCard:KIAA1217, HGNC:HGNC:25428, ModBase:Q6MZZ6, NCBI Gene:56243, RefSeq DNA:NT_008705, RefSeq Protein:NP_001091970, RefSeq Protein:NP_001091971, RefSeq Protein:NP_062536, RefSeq RNA:NM_001098500, RefSeq RNA:NM_001098501, RefSeq RNA:NM_019590, UniProtKB:Q5T5P2 No chr10 23983675 24836772 23694746 24547848 +PA134875219 57536 HGNC:29248 ENSG00000150477 KIAA1328 KIAA1328 hinderin Yes No Ensembl:ENSG00000150477, GeneCard:KIAA1328, HGNC:HGNC:29248, ModBase:Q86T90, NCBI Gene:57536, RefSeq DNA:NT_010966, RefSeq Protein:NP_065827, RefSeq RNA:NM_020776, UniProtKB:Q86T90 No chr18 34409069 34812095 36828929 37232127 +PA162393138 57670 HGNC:22219 ENSG00000122778 KIAA1549 KIAA1549 Yes No Ensembl:ENSG00000122778, GeneCard:KIAA1549, HGNC:HGNC:22219, NCBI Gene:57670, OMIM:613344, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001158137, RefSeq Protein:NP_065961, RefSeq RNA:NM_001164665, RefSeq RNA:NM_020910, UniProtKB:B6HY55, UniProtKB:B6HY58 No chr7 138516126 138666064 138831377 138981626 +PA142672301 25758 HGNC:24836 ENSG00000110427 KIAA1549 like KIAA1549L KIAA1549-like C11orf41, C11orf69, G2, MGC34830 Yes No Comparative Toxicogenomics Database:25758, Ensembl:ENSG00000110427, GeneCard:C11orf41, HGNC:HGNC:24836, NCBI Gene:25758, OMIM:612297, RefSeq DNA:NT_009237, RefSeq Protein:NP_036326, RefSeq RNA:NM_012194, UniProtKB:Q12914, UniProtKB:Q6ZVL6 No chr11 33563877 33695648 33376569 33674102 +PA134963244 57691 HGNC:21360 ENSG00000168116 KIAA1586 KIAA1586 Yes No Ensembl:ENSG00000168116, GeneCard:KIAA1586, HGNC:HGNC:21360, ModBase:Q9HCI6, NCBI Gene:57691, RefSeq DNA:NT_007592, RefSeq Protein:NP_065982, RefSeq RNA:NM_020931, UniProtKB:B4DIC2, UniProtKB:Q9HCI6 No chr6 56911343 56920023 57046532 57055739 +PA142671595 57710 HGNC:29327 ENSG00000135835 KIAA1614 KIAA1614 Yes No Ensembl:ENSG00000135835, GeneCard:KIAA1614, HGNC:HGNC:29327, NCBI Gene:57710, RefSeq DNA:NT_004487, RefSeq Protein:NP_066001, RefSeq RNA:NM_020950, UniProtKB:Q5VZ46 No chr1 180882313 180920745 180913177 180946103 +PA165378342 85379 HGNC:29345 ENSG00000197077 KIAA1671 KIAA1671 Yes No Ensembl:ENSG00000197077, GeneCard:KIAA1671, HGNC:HGNC:29345, NCBI Gene:85379, RefSeq DNA:NT_011520, RefSeq Protein:NP_001138678, RefSeq RNA:NM_001145206, UniProtKB:Q9BY89 No chr22 25348676 25593415 24952688 25197448 +PA162393181 85449 HGNC:29372 ENSG00000149633 KIAA1755 KIAA1755 quattro homolog (zebrafish) RP5-1054A22.3, quo Yes No Ensembl:ENSG00000149633, GeneCard:KIAA1755, HGNC:HGNC:29372, ModBase:Q5JYT7, NCBI Gene:85449, RefSeq DNA:NT_011362, RefSeq Protein:NP_001025035, RefSeq RNA:NM_001029864, UniProtKB:Q5JYT7 No chr20 36838907 36889174 38210505 38260772 +PA134937806 158405 HGNC:23427 ENSG00000165185 KIAA1958 KIAA1958 FLJ39294 Yes No Ensembl:ENSG00000165185, GeneCard:KIAA1958, HGNC:HGNC:23427, ModBase:Q8N8K9, NCBI Gene:158405, RefSeq DNA:NT_008470, RefSeq Protein:NP_597722, RefSeq RNA:NM_133465, UniProtKB:Q8N8K9 No chr9 115249248 115427587 112486968 112665311 +PA166123698 100652824 HGNC:51250 ENSG00000182329 KIAA2012 KIAA2012 Yes No Ensembl:ENSG00000182329, HGNC:HGNC:51250, NCBI Gene:100652824 No +PA142671593 90231 HGNC:28513 ENSG00000116685 KIAA2013 KIAA2013 MGC33867, RP5-1077B9.1 Yes No Ensembl:ENSG00000116685, GeneCard:KIAA2013, HGNC:HGNC:28513, ModBase:Q8IYS2, NCBI Gene:90231, RefSeq DNA:NT_021937, RefSeq Protein:NP_612355, RefSeq RNA:NM_138346, UniProtKB:Q8IYS2 No chr1 11979645 11986485 11919588 11926428 +PA166351930 144577 HGNC:26517 KICSTOR subunit 2 KICS2 C12orf66, FLJ32549 Yes No HGNC:HGNC:26517, NCBI Gene:144577 No 0 0 0 0 +PA164721911 57498 HGNC:29508 ENSG00000134313 kinase D interacting substrate 220 KIDINS220 """ankyrin repeat-rich membrane-spanning protein"", ""kinase D-interacting substrate, 220kDa""" ARMS Yes No Ensembl:ENSG00000134313, GeneCard:KIDINS220, HGNC:HGNC:29508, NCBI Gene:57498, RefSeq DNA:NT_005334, RefSeq Protein:NP_065789, RefSeq RNA:NM_020738, UniProtKB:Q7Z322, UniProtKB:Q9ULH0 No chr2 8865295 8977755 8728857 8837625 +PA30177 3832 HGNC:6388 ENSG00000138160 kinesin family member 11 KIF11 Eg5, HKSP, KNSL1, TRIP5 Yes No Comparative Toxicogenomics Database:3832, Ensembl:ENSG00000138160, GeneCard:KIF11, HGNC:HGNC:6388, HumanCyc Gene:HS06465, ModBase:P52732, NCBI Gene:3832, OMIM:148760, RefSeq DNA:NT_030059, RefSeq Protein:NP_004514, RefSeq RNA:NM_004523, UCSC Genome Browser:NM_004523, UniProtKB:P52732 No chr10 94352825 94415152 92593068 92655395 +PA134931618 113220 HGNC:21495 ENSG00000136883 kinesin family member 12 KIF12 Yes No Ensembl:ENSG00000136883, GeneCard:KIF12, HGNC:HGNC:21495, HumanCyc Gene:HS06240, ModBase:Q96FN5, NCBI Gene:113220, OMIM:611278, RefSeq DNA:NT_008470, RefSeq Protein:NP_612433, RefSeq RNA:NM_138424, UniProtKB:B1ALC3, UniProtKB:Q96FN5 No chr9 116853903 116861600 114091623 114100099 +PA30098 63971 HGNC:14566 ENSG00000137177 kinesin family member 13A KIF13A RBKIN, bA500C11.2 Yes No Ensembl:ENSG00000137177, GenAtlas:KIF13A, GeneCard:KIF13A, HGNC:HGNC:14566, HumanCyc Gene:HS06283, ModBase:Q9H1H9, NCBI Gene:63971, OMIM:605433, RefSeq DNA:NT_007592, RefSeq Protein:NP_001099036, RefSeq Protein:NP_001099037, RefSeq Protein:NP_001099038, RefSeq Protein:NP_071396, RefSeq RNA:NM_001105566, RefSeq RNA:NM_001105567, RefSeq RNA:NM_001105568, RefSeq RNA:NM_022113, UCSC Genome Browser:NM_022113, UniProtKB:Q9H1H9 No chr6 17759414 17987864 17759183 17987623 +PA30099 23303 HGNC:14405 ENSG00000197892 kinesin family member 13B KIF13B guanylate kinase associated kinesin GAKIN, KIAA0639 Yes No Comparative Toxicogenomics Database:23303, Ensembl:ENSG00000197892, GenAtlas:KIF13B, GeneCard:KIF13B, HGNC:HGNC:14405, ModBase:Q9NQT8, NCBI Gene:23303, OMIM:607350, RefSeq DNA:NT_167187, RefSeq Protein:NP_056069, RefSeq RNA:NM_015254, UCSC Genome Browser:NM_015254, UniProtKB:Q9NQT8 No chr8 28924795 29120610 29067278 29263384 +PA38820 9928 HGNC:19181 ENSG00000118193 kinesin family member 14 KIF14 KIAA0042 Yes No Comparative Toxicogenomics Database:9928, Ensembl:ENSG00000118193, GenAtlas:KIF14, GeneCard:KIF14, HGNC:HGNC:19181, HumanCyc Gene:HS04198, ModBase:Q15058, NCBI Gene:9928, OMIM:611279, RefSeq DNA:NT_004487, RefSeq Protein:NP_055690, RefSeq RNA:NM_014875, UCSC Genome Browser:NM_014875, UniProtKB:Q15058 No chr1 200520625 200589862 200551497 200620791 +PA30183 56992 HGNC:17273 ENSG00000163808 kinesin family member 15 KIF15 HKLP2, KNSL7, NY-BR-62 Yes No Comparative Toxicogenomics Database:56992, Ensembl:ENSG00000163808, GenAtlas:KIF15, GeneCard:KIF15, HGNC:HGNC:17273, HumanCyc Gene:HS08942, ModBase:Q9NS87, NCBI Gene:56992, RefSeq DNA:NT_022517, RefSeq Protein:NP_064627, RefSeq RNA:NM_020242, UCSC Genome Browser:NM_020242, UniProtKB:Q9NS87 No chr3 44803209 44894748 44761714 44853274 +PA162393227 55614 HGNC:15869 ENSG00000089177 kinesin family member 16B KIF16B sorting nexin 23 C20orf23, FLJ20135, SNX23, dJ971B4.1 Yes No Ensembl:ENSG00000089177, GeneCard:KIF16B, HGNC:HGNC:15869, HumanCyc Gene:HS01642, ModBase:Q9BQJ8, NCBI Gene:55614, RefSeq DNA:NT_011387, RefSeq Protein:NP_001186794, RefSeq Protein:NP_001186795, RefSeq Protein:NP_078980, RefSeq RNA:NM_001199865, RefSeq RNA:NM_001199866, RefSeq RNA:NM_024704, UniProtKB:Q96L93 No chr20 16252742 16554079 16272104 16573457 +PA38809 57576 HGNC:19167 ENSG00000117245 kinesin family member 17 KIF17 KIF17 variant protein, KIF3-related motor protein, kinesin-like protein KIF17 KIAA1405, KIF17B, KIF3X, KLP-2, OSM-3 Yes No Ensembl:ENSG00000117245, GenAtlas:KIF17, GeneCard:KIF17, HGNC:HGNC:19167, HumanCyc Gene:HS04109, ModBase:Q9P2E2, NCBI Gene:57576, OMIM:605037, RefSeq DNA:NT_004610, RefSeq Protein:NP_001116291, RefSeq Protein:NP_065867, RefSeq RNA:NM_001122819, RefSeq RNA:NM_020816, UniProtKB:A2A3Q7, UniProtKB:A2A3Q8, UniProtKB:Q9P2E2 No chr1 20990475 21044317 20662294 20718017 +PA134951326 81930 HGNC:29441 ENSG00000121621 kinesin family member 18A KIF18A protein phosphatase 1, regulatory subunit 99 DKFZP434G2226, PPP1R99 Yes No Ensembl:ENSG00000121621, GeneCard:KIF18A, HGNC:HGNC:29441, HumanCyc Gene:HS04507, ModBase:Q8NI77, NCBI Gene:81930, OMIM:611271, RefSeq DNA:NT_009237, RefSeq Protein:NP_112494, RefSeq RNA:NM_031217, UniProtKB:Q8NI77 No chr11 28042163 28129746 28020616 28108199 +PA162393284 146909 HGNC:27102 ENSG00000186185 kinesin family member 18B KIF18B Yes No Ensembl:ENSG00000186185, GeneCard:KIF18B, HGNC:HGNC:27102, NCBI Gene:146909, RefSeq DNA:NT_010783, RefSeq Protein:NP_001073912, RefSeq RNA:NM_001080443 No chr17 43002079 43025079 44924711 44947746 +PA143485523 124602 HGNC:26735 ENSG00000196169 kinesin family member 19 KIF19 FLJ37300, KIF19A Yes No Ensembl:ENSG00000196169, GeneCard:KIF19, HGNC:HGNC:26735, ModBase:Q2TAC6, NCBI Gene:124602, RefSeq DNA:NT_010783, RefSeq Protein:NP_694941, RefSeq RNA:NM_153209, UniProtKB:Q2TAC6 No chr17 72322351 72351959 74326212 74355820 +PA25180 547 HGNC:888 ENSG00000130294 kinesin family member 1A KIF1A ATSV, C2orf20, SPG30, UNC104 Yes No Comparative Toxicogenomics Database:547, Ensembl:ENSG00000130294, GenAtlas:KIF1A, GeneCard:KIF1A, HGNC:HGNC:888, HumanCyc Gene:HS05365, ModBase:Q63Z40, NCBI Gene:547, OMIM:601255, RefSeq DNA:NT_005416, RefSeq Protein:NP_004312, RefSeq RNA:NM_004321, UCSC Genome Browser:NM_004321, UniProtKB:B5MDZ8, UniProtKB:Q12756 No chr2 241653181 241759725 240713764 240821025 +PA38176 23095 HGNC:16636 ENSG00000054523 kinesin family member 1B KIF1B Charcot-Marie-Tooth neuropathy type II CMT2, CMT2A, HMSNII, KIAA0591, KLP Yes No Comparative Toxicogenomics Database:23095, Ensembl:ENSG00000054523, GenAtlas:KIF1B, GeneCard:KIF1B, HGNC:HGNC:16636, HumanCyc Gene:HS00671, ModBase:O60333, NCBI Gene:23095, OMIM:118210, OMIM:171300, OMIM:256700, OMIM:605995, RefSeq DNA:NG_008069, RefSeq DNA:NT_021937, RefSeq Protein:NP_055889, RefSeq Protein:NP_904325, RefSeq RNA:NM_015074, RefSeq RNA:NM_183416, UCSC Genome Browser:NM_015074, UniProtKB:O60333 No chr1 10270606 10441664 10210706 10381603 +PA30100 10749 HGNC:6317 ENSG00000129250 kinesin family member 1C KIF1C SAX2, SPAX2, SPG58 Yes No Comparative Toxicogenomics Database:10749, Ensembl:ENSG00000129250, GenAtlas:KIF1C, GeneCard:KIF1C, HGNC:HGNC:6317, HumanCyc Gene:HS05262, ModBase:O43896, NCBI Gene:10749, OMIM:603060, RefSeq DNA:NT_010718, RefSeq Protein:NP_006603, RefSeq RNA:NM_006612, UCSC Genome Browser:NM_006612, UniProtKB:O43896 No chr17 4901243 4931694 4997948 5028399 +PA34149 10112 HGNC:9787 ENSG00000112984 kinesin family member 20A KIF20A mitotic kinesin-like protein 2 MKLP2, RAB6KIFL Yes No Comparative Toxicogenomics Database:10112, Ensembl:ENSG00000112984, GeneCard:KIF20A, HGNC:HGNC:9787, HumanCyc Gene:HS03638, ModBase:O95235, NCBI Gene:10112, OMIM:605664, RefSeq DNA:NT_034772, RefSeq Protein:NP_005724, RefSeq RNA:NM_005733, UCSC Genome Browser:NM_005733, UniProtKB:O95235 No chr5 137514408 137523404 138178728 138187715 +PA162393285 9585 HGNC:7212 ENSG00000138182 kinesin family member 20B KIF20B cancer/testis antigen 90 CT90, KRMP1, MPHOSPH1, MPP1 Yes No Ensembl:ENSG00000138182, GeneCard:KIF20B, HGNC:HGNC:7212, HumanCyc Gene:HS06470, NCBI Gene:9585, OMIM:605498, RefSeq DNA:NT_030059, RefSeq Protein:NP_057279, RefSeq RNA:NM_016195, UniProtKB:Q96Q89 No chr10 91461264 91534700 89701590 89774943 +PA134882934 55605 HGNC:19349 ENSG00000139116 kinesin family member 21A KIF21A FEOM1, FLJ20052 Yes No Comparative Toxicogenomics Database:55605, Ensembl:ENSG00000139116, GenAtlas:KIF21A, GeneCard:KIF21A, HGNC:HGNC:19349, HumanCyc Gene:HS06580, ModBase:Q7Z4S6, NCBI Gene:55605, OMIM:135700, OMIM:608283, RefSeq DNA:NG_017067, RefSeq DNA:NT_029419, RefSeq Protein:NP_001166934, RefSeq Protein:NP_001166935, RefSeq Protein:NP_001166936, RefSeq Protein:NP_060111, RefSeq RNA:NM_001173463, RefSeq RNA:NM_001173464, RefSeq RNA:NM_001173465, RefSeq RNA:NM_017641, UniProtKB:B9EGE4, UniProtKB:Q2UVF1, UniProtKB:Q7Z4S6 No chr12 39687030 39837192 39293228 39443414 +PA134925106 23046 HGNC:29442 ENSG00000116852 kinesin family member 21B KIF21B DKFZP434J212, KIAA0449 Yes No Comparative Toxicogenomics Database:23046, Ensembl:ENSG00000116852, GeneCard:KIF21B, HGNC:HGNC:29442, ModBase:O75037, NCBI Gene:23046, OMIM:608322, RefSeq DNA:NT_004487, RefSeq Protein:NP_060066, RefSeq RNA:NM_017596, UniProtKB:O75037 No chr1 200938514 200992828 200969386 201023700 +PA30180 3835 HGNC:6391 ENSG00000079616 kinesin family member 22 KIF22 KNSL4, Kid, OBP-1, OBP-2 Yes No Comparative Toxicogenomics Database:3835, Ensembl:ENSG00000079616, GeneCard:KIF22, HGNC:HGNC:6391, HumanCyc Gene:HS01333, ModBase:Q14807, NCBI Gene:3835, OMIM:603213, RefSeq DNA:NT_010393, RefSeq Protein:NP_015556, RefSeq RNA:NM_007317, UCSC Genome Browser:NM_007317, UniProtKB:Q14807 No chr16 29801383 29816706 29790062 29805385 +PA30181 9493 HGNC:6392 ENSG00000137807 kinesin family member 23 KIF23 KNSL5, MKLP-1, MKLP1 Yes No Comparative Toxicogenomics Database:9493, Ensembl:ENSG00000137807, GeneCard:KIF23, HGNC:HGNC:6392, HumanCyc Gene:HS06399, ModBase:Q02241, NCBI Gene:9493, OMIM:605064, RefSeq DNA:NT_010194, RefSeq Protein:NP_004847, RefSeq Protein:NP_612565, RefSeq RNA:NM_004856, RefSeq RNA:NM_138555, UCSC Genome Browser:NM_004856, UniProtKB:Q02241 No chr15 69706585 69740766 69414246 69448427 +PA142671589 347240 HGNC:19916 ENSG00000186638 kinesin family member 24 KIF24 C9orf48, FLJ10933, FLJ43884, bA571F15.4 Yes No Ensembl:ENSG00000186638, GeneCard:KIF24, HGNC:HGNC:19916, ModBase:Q5T7B8, NCBI Gene:347240, RefSeq DNA:NT_008413, RefSeq Protein:NP_919289, RefSeq RNA:NM_194313, UniProtKB:Q5T7B8 No chr9 34252378 34329198 34252380 34332972 +PA30179 3834 HGNC:6390 ENSG00000125337 kinesin family member 25 KIF25 KNSL3 Yes No Ensembl:ENSG00000125337, GeneCard:KIF25, HGNC:HGNC:6390, HumanCyc Gene:HS04870, ModBase:Q9UIL4, NCBI Gene:3834, OMIM:603815, RefSeq DNA:NT_025741, RefSeq Protein:NP_005346, RefSeq Protein:NP_085118, RefSeq RNA:NM_005355, RefSeq RNA:NM_030615, UCSC Genome Browser:NM_005355, UniProtKB:Q9UIL4 No chr6 168418553 168445769 168002543 168045106 +PA134940310 100505879 HGNC:20953 ENSG00000229921 KIF25 antisense RNA 1 KIF25-AS1 HGC6.1.1 Yes No Ensembl:ENSG00000229921, GeneCard:C6orf54, HGNC:HGNC:20953, NCBI Gene:100505879, RefSeq DNA:NT_007302, RefSeq Protein:NP_055169, RefSeq RNA:NM_014354 No chr6 168393502 168397765 167994187 167997077 +PA134888008 26153 HGNC:20226 ENSG00000066735 kinesin family member 26A KIF26A DKFZP434N178, KIAA1236 Yes No Comparative Toxicogenomics Database:26153, Ensembl:ENSG00000066735, GeneCard:KIF26A, HGNC:HGNC:20226, ModBase:Q9ULI4, NCBI Gene:26153, OMIM:613231, RefSeq DNA:NT_026437, RefSeq Protein:NP_056471, RefSeq RNA:NM_015656, UniProtKB:Q9ULI4 No chr14 104605060 104647235 104138723 104180898 +PA145148575 55083 HGNC:25484 ENSG00000162849 kinesin family member 26B KIF26B FLJ10157 Yes No Comparative Toxicogenomics Database:55083, Ensembl:ENSG00000162849, GeneCard:KIF26B, HGNC:HGNC:25484, HumanCyc Gene:HS14977, ModBase:Q2KJY2, NCBI Gene:55083, RefSeq DNA:NT_167186, RefSeq Protein:NP_060482, RefSeq RNA:NM_018012, UniProtKB:Q2KJY2 No chr1 245318287 245866428 245154985 245703126 +PA134912901 55582 HGNC:18632 ENSG00000165115 kinesin family member 27 KIF27 DKFZp434D0917 Yes No Comparative Toxicogenomics Database:55582, Ensembl:ENSG00000165115, GeneCard:KIF27, HGNC:HGNC:18632, ModBase:Q86VH2, NCBI Gene:55582, OMIM:611253, RefSeq DNA:NT_008470, RefSeq Protein:NP_060046, RefSeq RNA:NM_017576, UniProtKB:Q86VH2 No chr9 86451613 86536428 83832795 83921539 +PA162393356 3796 HGNC:6318 ENSG00000068796 kinesin family member 2A KIF2A kinesin heavy chain member 2A HK2, KIF2 Yes No Ensembl:ENSG00000068796, GeneCard:KIF2A, HGNC:HGNC:6318, HumanCyc Gene:HS00945, ModBase:O00139, NCBI Gene:3796, OMIM:602591, RefSeq DNA:NT_006713, RefSeq Protein:NP_001091981, RefSeq Protein:NP_004511, RefSeq RNA:NM_001098511, RefSeq RNA:NM_004520, UniProtKB:O00139 No chr5 61601989 61683011 62306162 62387184 +PA134928830 84643 HGNC:29443 ENSG00000141200 kinesin family member 2B KIF2B Yes No Ensembl:ENSG00000141200, GeneCard:KIF2B, HGNC:HGNC:29443, HumanCyc Gene:HS06808, ModBase:Q8N4N8, NCBI Gene:84643, RefSeq DNA:NT_010783, RefSeq Protein:NP_115948, RefSeq RNA:NM_032559, UniProtKB:Q8N4N8 No chr17 51900239 51902573 53822878 53825212 +PA30182 11004 HGNC:6393 ENSG00000142945 kinesin family member 2C KIF2C CT139, KNSL6, MCAK Yes No Comparative Toxicogenomics Database:11004, Ensembl:ENSG00000142945, GeneCard:KIF2C, HGNC:HGNC:6393, HumanCyc Gene:HS06973, ModBase:Q99661, NCBI Gene:11004, OMIM:604538, RefSeq DNA:NT_032977, RefSeq Protein:NP_006836, RefSeq RNA:NM_006845, UCSC Genome Browser:NM_006845, UniProtKB:Q99661 No chr1 45205396 45233439 44739704 44767767 +PA30102 11127 HGNC:6319 ENSG00000131437 kinesin family member 3A KIF3A kinesin family protein 3A FLA10, KLP-20 Yes No Comparative Toxicogenomics Database:11127, Ensembl:ENSG00000131437, GenAtlas:KIF3A, GeneCard:KIF3A, HGNC:HGNC:6319, HumanCyc Gene:HS05527, ModBase:Q9Y496, NCBI Gene:11127, OMIM:604683, RefSeq DNA:NT_034772, RefSeq Protein:NP_008985, RefSeq RNA:NM_007054, UCSC Genome Browser:NM_007054, UniProtKB:Q05CT3, UniProtKB:Q9Y496 No chr5 132028323 132073265 132688808 132737633 +PA30103 9371 HGNC:6320 ENSG00000101350 kinesin family member 3B KIF3B FLA8, KIAA0359, KLP-11 Yes No Ensembl:ENSG00000101350, GenAtlas:KIF3B, GeneCard:KIF3B, HGNC:HGNC:6320, HumanCyc Gene:HS02252, ModBase:O15066, NCBI Gene:9371, OMIM:603754, RefSeq DNA:NT_011362, RefSeq Protein:NP_004789, RefSeq RNA:NM_004798, UCSC Genome Browser:NM_004798, UniProtKB:O15066 No chr20 30865443 30922814 32277640 32335011 +PA30104 3797 HGNC:6321 ENSG00000084731 kinesin family member 3C KIF3C Yes No Comparative Toxicogenomics Database:3797, Ensembl:ENSG00000084731, GenAtlas:KIF3C, GeneCard:KIF3C, HGNC:HGNC:6321, HumanCyc Gene:HS01478, ModBase:O14782, NCBI Gene:3797, OMIM:602845, RefSeq DNA:NT_022184, RefSeq Protein:NP_002245, RefSeq RNA:NM_002254, UCSC Genome Browser:NM_002254, UniProtKB:A2RU78, UniProtKB:O14782 No chr2 26149455 26205443 25926586 25982574 +PA30105 24137 HGNC:13339 ENSG00000090889 kinesin family member 4A KIF4A chromokinesin, chromokinesin KIF4A FLJ12530, FLJ12655, FLJ14204, FLJ20631, HSA271784, KIF4, KIF4-G1, MRX100 Yes No Comparative Toxicogenomics Database:24137, Ensembl:ENSG00000090889, GenAtlas:KIF4A, GeneCard:KIF4A, HGNC:HGNC:13339, HumanCyc Gene:HS01708, ModBase:O95239, NCBI Gene:24137, OMIM:300521, RefSeq DNA:NG_016799, RefSeq DNA:NT_011669, RefSeq Protein:NP_036442, RefSeq RNA:NM_012310, UCSC Genome Browser:NM_012310, UniProtKB:O95239, UniProtKB:Q59HG1 No chrX 69509879 69640774 70290029 70420924 +PA30106 285643 HGNC:6322 ENSG00000226650 kinesin family member 4B KIF4B Chromosome-associated kinesin KIF4B, chromokinesin KIF4B Yes No Ensembl:ENSG00000226650, GenAtlas:KIF4B, GeneCard:KIF4B, HGNC:HGNC:6322, ModBase:Q2VIQ3, NCBI Gene:285643, OMIM:609184, RefSeq DNA:NT_029289, RefSeq Protein:NP_001092763, RefSeq RNA:NM_001099293, UniProtKB:Q2VIQ3 No chr5 154393260 154397685 155013700 155018125 +PA143485522 347363 HGNC:13340 ENSG00000225025 kinesin family member 4C pseudogene KIF4CP KIF4P1 Yes No Ensembl:ENSG00000225025, GeneCard:KIF4CP, HGNC:HGNC:13340, NCBI Gene:347363, RefSeq DNA:NG_016703, RefSeq DNA:NT_011651 No chrX 78578796 78580282 79323299 79324785 +PA30107 3798 HGNC:6323 ENSG00000155980 kinesin family member 5A KIF5A neuron-specific kinesin heavy chain D12S1889, MY050, NKHC, SPG10 Yes No Comparative Toxicogenomics Database:3798, Ensembl:ENSG00000155980, GenAtlas:KIF5A, GeneCard:KIF5A, HGNC:HGNC:6323, HumanCyc Gene:HS08088, ModBase:Q12840, NCBI Gene:3798, OMIM:602821, OMIM:604187, RefSeq DNA:NG_008155, RefSeq DNA:NT_029419, RefSeq Protein:NP_004975, RefSeq RNA:NM_004984, UCSC Genome Browser:NM_004984, UniProtKB:Q12840 No chr12 57943812 57980416 57550064 57584771 +PA30108 3799 HGNC:6324 ENSG00000170759 kinesin family member 5B KIF5B ubiquitous kinesin heavy chain KNS, KNS1, uKHC Yes No Comparative Toxicogenomics Database:3799, Ensembl:ENSG00000170759, GenAtlas:KIF5B, GeneCard:KIF5B, HGNC:HGNC:6324, HumanCyc Gene:HS10175, ModBase:P33176, NCBI Gene:3799, OMIM:602809, RefSeq DNA:NT_008705, RefSeq Protein:NP_004512, RefSeq RNA:NM_004521, UCSC Genome Browser:NM_004521, UniProtKB:P33176, UniProtKB:Q6P164 No chr10 32297938 32345371 32009010 32056443 +PA30109 3800 HGNC:6325 ENSG00000168280 kinesin family member 5C KIF5C neuron-specific kinesin heavy chain 2 NKHC2 Yes No Ensembl:ENSG00000168280, GenAtlas:KIF5C, GeneCard:KIF5C, HGNC:HGNC:6325, HumanCyc Gene:HS09724, ModBase:O60282, NCBI Gene:3800, OMIM:604593, RefSeq DNA:NT_005403, RefSeq DNA:NT_022135, RefSeq Protein:NP_004513, RefSeq RNA:NM_004522, UCSC Genome Browser:NM_004522, UniProtKB:O60282 No chr2 3214 96131 148875223 149026759 +PA134920075 221458 HGNC:21202 ENSG00000164627 kinesin family member 6 KIF6 C6orf102, DKFZp451I2418, MGC33317, dJ1043E3.1, dJ137F1.4, dJ188D3.1 Yes Yes Ensembl:ENSG00000164627, GeneCard:KIF6, HGNC:HGNC:21202, HumanCyc Gene:HS15221, ModBase:Q6ZMV9, NCBI Gene:221458, RefSeq DNA:NT_007592, RefSeq Protein:NP_659464, RefSeq RNA:NM_145027, UniProtKB:Q6ZMV9 No chr6 39302876 39693181 39335100 39725405 +PA134871338 374654 HGNC:30497 ENSG00000166813 kinesin family member 7 KIF7 JBTS12 Yes No Ensembl:ENSG00000166813, GeneCard:KIF7, HGNC:HGNC:30497, NCBI Gene:374654, OMIM:611254, RefSeq DNA:NT_010274, RefSeq Protein:NP_940927, RefSeq RNA:NM_198525, UniProtKB:Q2M1P5 No chr15 90171201 90198725 89627970 89663086 +PA30110 64147 HGNC:16666 ENSG00000088727 kinesin family member 9 KIF9 MGC104186 Yes No Ensembl:ENSG00000088727, GenAtlas:KIF9, GeneCard:KIF9, HGNC:HGNC:16666, HumanCyc Gene:HS01605, ModBase:Q9HAQ2, NCBI Gene:64147, OMIM:607910, RefSeq DNA:NT_022517, RefSeq Protein:NP_001128350, RefSeq Protein:NP_071737, RefSeq Protein:NP_878905, RefSeq RNA:NM_001134878, RefSeq RNA:NM_022342, RefSeq RNA:NM_182902, UCSC Genome Browser:NM_022342, UniProtKB:A8K932, UniProtKB:Q9HAQ2 No chr3 47269516 47324337 47228026 47282847 +PA30111 22920 HGNC:17060 ENSG00000075945 kinesin associated protein 3 KIFAP3 Smg GDS, kinesin-associated protein 3 FLA3, KAP-1, KAP3, SMAP Yes No Comparative Toxicogenomics Database:22920, Ensembl:ENSG00000075945, GenAtlas:KIFAP3, GeneCard:KIFAP3, HGNC:HGNC:17060, HumanCyc Gene:HS01194, ModBase:Q92845, NCBI Gene:22920, OMIM:601836, RefSeq DNA:NG_012883, RefSeq DNA:NT_004487, RefSeq Protein:NP_001191443, RefSeq Protein:NP_001191445, RefSeq Protein:NP_001191446, RefSeq Protein:NP_055785, RefSeq RNA:NM_001204514, RefSeq RNA:NM_001204516, RefSeq RNA:NM_001204517, RefSeq RNA:NM_014970, UCSC Genome Browser:NM_014970, UniProtKB:Q92845 No chr1 169890461 170043882 169921329 170074741 +PA166351931 26128 HGNC:23419 kinesin family binding protein KIFBP kinesin binding protein DKFZP586B0923, KBP, KIAA1279, KIF1BP, TTC20 Yes No HGNC:HGNC:23419, NCBI Gene:26128 No 0 0 0 0 +PA30178 3833 HGNC:6389 ENSG00000204197, ENSG00000233450, ENSG00000237649 kinesin family member C1 KIFC1 HSET, KNSL2 Yes No Comparative Toxicogenomics Database:3833, Ensembl:ENSG00000204197, Ensembl:ENSG00000233450, Ensembl:ENSG00000237649, GeneCard:KIFC1, HGNC:HGNC:6389, HumanCyc Gene:HS00699, ModBase:Q9BW19, NCBI Gene:3833, OMIM:603763, RefSeq DNA:NT_007592, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002254, RefSeq RNA:NM_002263, UniProtKB:Q9BW19 No chr6 33359301 33377701 33391524 33410226 +PA134874212 90990 HGNC:29530 ENSG00000167702 kinesin family member C2 KIFC2 Yes No Comparative Toxicogenomics Database:90990, Ensembl:ENSG00000167702, GeneCard:KIFC2, HGNC:HGNC:29530, HumanCyc Gene:HS09611, ModBase:Q96AC6, NCBI Gene:90990, RefSeq DNA:NT_037704, RefSeq Protein:NP_665697, RefSeq RNA:NM_145754, UniProtKB:Q96AC6 No chr8 145691432 145699499 144466246 144474116 +PA30112 3801 HGNC:6326 ENSG00000140859 kinesin family member C3 KIFC3 Yes No Comparative Toxicogenomics Database:3801, Ensembl:ENSG00000140859, GenAtlas:KIFC3, GeneCard:KIFC3, HGNC:HGNC:6326, HumanCyc Gene:HS06769, NCBI Gene:3801, OMIM:604535, RefSeq DNA:NT_010498, RefSeq Protein:NP_001123571, RefSeq Protein:NP_001123572, RefSeq Protein:NP_005541, RefSeq RNA:NM_001130099, RefSeq RNA:NM_001130100, RefSeq RNA:NM_005550, UCSC Genome Browser:NM_005550, UniProtKB:A8K6S2, UniProtKB:Q9BVG8 No chr16 57792129 57896957 57758217 57863053 +PA30113 22944 HGNC:6327 ENSG00000151657 Kin17 DNA and RNA binding protein KIN KIN, antigenic determinant of recA protein homolog (mouse) KIN17, Rts2 Yes No Comparative Toxicogenomics Database:22944, Ensembl:ENSG00000151657, GenAtlas:KIN, GeneCard:KIN, HGNC:HGNC:6327, HumanCyc Gene:HS07759, NCBI Gene:22944, OMIM:601720, RefSeq DNA:NT_008705, RefSeq Protein:NP_036443, RefSeq RNA:NM_012311, UCSC Genome Browser:NM_012311, UniProtKB:O60870 No chr10 7792925 7829990 7750962 7788027 +PA30114 3802 HGNC:6329 ENSG00000125498 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 47.11, CD158A, cl-42, nkat1, p58.1 Yes No Comparative Toxicogenomics Database:3802, Ensembl:ENSG00000125498, GenAtlas:KIR2DL1, GeneCard:KIR2DL1, HGNC:HGNC:6329, ModBase:P43626, NCBI Gene:3802, OMIM:604936, RefSeq DNA:NG_005990, RefSeq DNA:NG_005994, RefSeq DNA:NT_011109, RefSeq Protein:NP_055033, RefSeq RNA:NM_014218, UCSC Genome Browser:NM_014218, UniProtKB:P43626, UniProtKB:Q6H2H2, UniProtKB:Q6H2H3 No chr19 55281265 55295778 54769208 54784326 +PA30115 3803 HGNC:6330 ENSG00000278731 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 CD158B1, CD158k, cl-43, nkat6 Yes No Comparative Toxicogenomics Database:3803, Ensembl:ENSG00000278731, GenAtlas:KIR2DL2, GeneCard:KIR2DL2, HGNC:HGNC:6330, ModBase:P43627, NCBI Gene:3803, OMIM:604937, RefSeq DNA:NG_005994, RefSeq DNA:NT_113949, RefSeq Protein:NP_055034, RefSeq Protein:XP_003403623, RefSeq Protein:XP_003403624, RefSeq RNA:NM_014219, RefSeq RNA:XM_003403575, RefSeq RNA:XM_003403576, UCSC Genome Browser:NM_014219, UniProtKB:P43627, UniProtKB:Q6H2H0, UniProtKB:Q8N742 No chr19 21890 36439 177968 192511 +PA30116 3804 HGNC:6331 ENSG00000243772 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 CD158B2, cl-6, nkat2, nkat2a, nkat2b, p58 Yes No Comparative Toxicogenomics Database:3804, Ensembl:ENSG00000243772, GenAtlas:KIR2DL3, GeneCard:KIR2DL3, HGNC:HGNC:6331, ModBase:P43628, NCBI Gene:3804, OMIM:604938, RefSeq DNA:NG_005990, RefSeq DNA:NT_011109, RefSeq Protein:NP_055326, RefSeq Protein:NP_056952, RefSeq RNA:NM_014511, RefSeq RNA:NM_015868, UCSC Genome Browser:NM_014511, UniProtKB:P43628 No chr19 55249974 55264504 54738509 54753052 +PA30117 3805 HGNC:6332 ENSG00000189013, ENSG00000215764 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 103AS, 15.212, CD158D Yes No Comparative Toxicogenomics Database:3805, Ensembl:ENSG00000189013, Ensembl:ENSG00000215764, GenAtlas:KIR2DL4, GeneCard:KIR2DL4, HGNC:HGNC:6332, ModBase:Q99559, NCBI Gene:3805, OMIM:604945, RefSeq DNA:NG_005990, RefSeq DNA:NG_005994, RefSeq DNA:NT_011109, RefSeq Protein:NP_001074239, RefSeq Protein:NP_001074241, RefSeq Protein:NP_002246, RefSeq RNA:NM_001080770, RefSeq RNA:NM_001080772, RefSeq RNA:NM_002255, UCSC Genome Browser:NM_002255, UniProtKB:Q99706 No chr19 55304500 55325972 54803612 54814517 +PA142671590 57292 HGNC:16345 ENSG00000276392 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A KIR2DL5A killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A CD158F, KIR2DL5, KIR2DL5.1 Yes No Comparative Toxicogenomics Database:57292, Ensembl:ENSG00000276392, GeneCard:KIR2DL5A, HGNC:HGNC:16345, ModBase:Q8N109, NCBI Gene:57292, OMIM:605305, RefSeq DNA:NG_005994, RefSeq DNA:NT_113949, RefSeq Protein:NP_065396, RefSeq RNA:NM_020535, UniProtKB:Q8N109 No chr19 86691 96155 46835 56299 +PA142671591 553128 HGNC:16346 ENSG00000275946 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B KIR2DL5B killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B KIR2DL5, KIR2DL5.2, KIR2DL5.3, KIR2DL5.4 Yes No Ensembl:ENSG00000275946, GeneCard:KIR2DL5B, HGNC:HGNC:16346, ModBase:Q8NHK3, NCBI Gene:553128, RefSeq DNA:NG_005994, RefSeq Protein:NP_001018091, RefSeq RNA:NM_001018081, UniProtKB:Q8NHK4 No chr19 +PA142671592 554300 HGNC:16344 ENSG00000242473 killer cell immunoglobulin-like receptor, two domains, pseudogene 1 KIR2DP1 KIR15, KIR2DL6, KIRY, KIRZ Yes No Ensembl:ENSG00000242473, GeneCard:KIR2DP1, HGNC:HGNC:16344, NCBI Gene:554300, RefSeq DNA:NG_005990, RefSeq DNA:NG_005994, RefSeq DNA:NT_011109 No chr19 55267464 55272220 54756012 54760768 +PA30118 3806 HGNC:6333 ENSG00000275421 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 CD158H, EB6ActI, EB6ActII Yes No Comparative Toxicogenomics Database:3806, Ensembl:ENSG00000275421, GenAtlas:KIR2DS1, GeneCard:KIR2DS1, HGNC:HGNC:6333, ModBase:Q14954, NCBI Gene:3806, OMIM:604952, RefSeq DNA:NG_005994, RefSeq DNA:NT_113949, RefSeq Protein:NP_055327, RefSeq RNA:NM_014512, UCSC Genome Browser:NM_014512, UniProtKB:Q14954 No chr19 115099 129113 13877 27891 +PA30119 100132285 HGNC:6334 ENSG00000276258 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 183ActI, CD158J, cl-49, nkat5 Yes No Ensembl:ENSG00000276258, GenAtlas:KIR2DS2, GeneCard:KIR2DS2, HGNC:HGNC:6334, ModBase:P43631, NCBI Gene:100132285, OMIM:604953, RefSeq DNA:NG_005994, RefSeq DNA:NT_113949, RefSeq Protein:NP_036444, RefSeq RNA:NM_012312, UCSC Genome Browser:NM_012312, UniProtKB:P43631 No chr19 131449 145745 122955 137265 +PA30120 3808 HGNC:6335 ENSG00000278306 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 KIR2DS3 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 nkat7 Yes No Ensembl:ENSG00000278306, GenAtlas:KIR2DS3, GeneCard:KIR2DS3, HGNC:HGNC:6335, ModBase:Q14952, NCBI Gene:3808, OMIM:604954, RefSeq DNA:NG_005994, RefSeq Protein:NP_036445, RefSeq RNA:NM_012313, UCSC Genome Browser:NM_012313, UniProtKB:Q14952 No chr19 +PA30121 3809 HGNC:6336 ENSG00000221957 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 (gene/pseudogene) KIR2DS4 """killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4"", ""killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4""" CD158i, KKA3, cl-39, nkat8 Yes No Ensembl:ENSG00000221957, GenAtlas:KIR2DS4, GeneCard:KIR2DS4, HGNC:HGNC:6336, ModBase:P43632, NCBI Gene:3809, OMIM:604955, RefSeq DNA:NG_005990, RefSeq DNA:NT_011109, RefSeq Protein:NP_036446, RefSeq RNA:NM_012314, UCSC Genome Browser:NM_012314, UniProtKB:P43632 No chr19 55344174 55360023 54832676 54848569 +PA30122 3810 HGNC:6337 ENSG00000276676 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 CD158G, nkat9 Yes No Comparative Toxicogenomics Database:3810, Ensembl:ENSG00000276676, GenAtlas:KIR2DS5, GeneCard:KIR2DS5, HGNC:HGNC:6337, ModBase:Q14953, NCBI Gene:3810, OMIM:604956, RefSeq DNA:NG_005994, RefSeq DNA:NT_113949, RefSeq Protein:NP_055328, RefSeq Protein:XP_002346955, RefSeq Protein:XP_003403450, RefSeq Protein:XP_003403451, RefSeq RNA:NM_014513, RefSeq RNA:XM_002346914, RefSeq RNA:XM_003403402, RefSeq RNA:XM_003403403, UCSC Genome Browser:NM_014513 No chr19 98112 113132 30000 44436 +PA30123 3811 HGNC:6338 ENSG00000167633 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 AMB11, CD158E1, CD158e1, CD158e1/2, CD158e2, KIR, NKB1, NKB1B, cl-11, cl-2, nkat3 Yes No Comparative Toxicogenomics Database:3811, Ensembl:ENSG00000167633, GenAtlas:KIR3DL1, GeneCard:KIR3DL1, HGNC:HGNC:6338, ModBase:P43629, NCBI Gene:3811, OMIM:604946, OMIM:609423, RefSeq DNA:NG_005990, RefSeq DNA:NG_021414, RefSeq DNA:NT_011109, RefSeq Protein:NP_037421, RefSeq Protein:XP_003403454, RefSeq RNA:NM_013289, RefSeq RNA:XM_003403406, UCSC Genome Browser:NM_013289, UniProtKB:P43629, UniProtKB:Q5UCE2, UniProtKB:Q8N6C9 No chr19 55327893 55342233 54816438 54830778 +PA30124 3812 HGNC:6339 ENSG00000240403 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 CD158K, cl-5, nkat4, nkat4a, nkat4b Yes Yes Comparative Toxicogenomics Database:3812, Ensembl:ENSG00000240403, GenAtlas:KIR3DL2, GeneCard:KIR3DL2, HGNC:HGNC:6339, HumanCyc Gene:HS04896, ModBase:P43630, NCBI Gene:3812, OMIM:604947, RefSeq DNA:NG_005990, RefSeq DNA:NG_012802, RefSeq DNA:NT_011109, RefSeq Protein:NP_001229796, RefSeq Protein:NP_006728, RefSeq Protein:XP_003403455, RefSeq RNA:NM_001242867, RefSeq RNA:NM_006737, RefSeq RNA:XM_003403407, UCSC Genome Browser:NM_006737, UniProtKB:P43630, UniProtKB:Q8NHK6 No chr19 55361898 55378670 54850319 54867215 +PA134887375 115653 HGNC:16312 ENSG00000242019 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 CD158z, KIR3DL7, KIR44, KIRC1 Yes No Comparative Toxicogenomics Database:115653, Ensembl:ENSG00000242019, GeneCard:KIR3DL3, HGNC:HGNC:16312, ModBase:Q8N743, NCBI Gene:115653, OMIM:610095, RefSeq DNA:NG_005990, RefSeq DNA:NG_005994, RefSeq DNA:NT_011109, RefSeq Protein:NP_703144, RefSeq RNA:NM_153443, UniProtKB:Q8N743 No chr19 55235984 55248003 54724447 54736536 +PA142671585 548594 HGNC:16343 ENSG00000264257 killer cell immunoglobulin-like receptor, three domains, pseudogene 1 KIR3DP1 CD158C, KIR2DS6, KIR3DS2P, KIR48, KIRX Yes No Ensembl:ENSG00000264257, GeneCard:KIR3DP1, HGNC:HGNC:16343, NCBI Gene:548594, OMIM:610604, RefSeq DNA:NG_005990, RefSeq DNA:NG_005994, RefSeq DNA:NT_011109 No chr19 55297814 55301870 54786362 54790418 +PA30125 3813 HGNC:6340 ENSG00000276498 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 nkat10 Yes No Ensembl:ENSG00000276498, GenAtlas:KIR3DS1, GeneCard:KIR3DS1, HGNC:HGNC:6340, ModBase:Q14943, NCBI Gene:3813, RefSeq DNA:NG_005994, RefSeq DNA:NT_113949, RefSeq Protein:NP_001077008, RefSeq RNA:NM_001083539, UCSC Genome Browser:NM_014514, UniProtKB:O43469 No chr19 70097 84658 58332 72919 +PA162393401 90011 HGNC:25043 ENSG00000104970 killer cell immunoglobulin-like receptor, three domains, X1 KIR3DX1 FLJ00060 Yes No Ensembl:ENSG00000104970, GeneCard:KIR3DX1, HGNC:HGNC:25043, ModBase:Q9H7L2, NCBI Gene:90011, RefSeq DNA:NT_011109, RefSeq RNA:NR_026716 No chr19 55043909 55055195 54532692 54545768 +PA30126 55243 HGNC:15734 ENSG00000183853 kirre like nephrin family adhesion molecule 1 KIRREL1 Kin of IRRE-like protein 1, kin of IRRE like (Drosophila), nephrin-like protein 1 KIRREL, NEPH1 Yes No Ensembl:ENSG00000183853, GenAtlas:KIRREL, GeneCard:KIRREL, HGNC:HGNC:15734, ModBase:Q96J84, NCBI Gene:55243, OMIM:607428, RefSeq DNA:NT_004487, RefSeq Protein:NP_060710, RefSeq RNA:NM_018240, UCSC Genome Browser:NM_018240, UniProtKB:Q96J84 No chr1 157963063 158065846 157993273 158100262 +PA38693 84063 HGNC:18816 ENSG00000126259 kirre like nephrin family adhesion molecule 2 KIRREL2 kin of IRRE like 2 (Drosophila), nephrin-like gene 1 DKFZp564A1164, FILTRIN, MGC15718, NEPH3, NLG1 Yes Yes Ensembl:ENSG00000126259, GenAtlas:KIRREL2, GeneCard:KIRREL2, HGNC:HGNC:18816, HumanCyc Gene:HS13203, ModBase:Q6UWL6, NCBI Gene:84063, OMIM:607762, RefSeq DNA:NT_011109, RefSeq Protein:NP_115499, RefSeq Protein:NP_954648, RefSeq Protein:NP_954649, RefSeq RNA:NM_032123, RefSeq RNA:NM_199179, RefSeq RNA:NM_199180, UCSC Genome Browser:NM_032123, UniProtKB:Q6UWL6 No chr19 36342552 36358048 35851635 35867146 +PA134958283 84623 HGNC:23204 ENSG00000149571 kirre like nephrin family adhesion molecule 3 KIRREL3 kin of IRRE like 3 (Drosophila) KIAA1867, KIRRE, NEPH2 Yes No Ensembl:ENSG00000149571, GeneCard:KIRREL3, HGNC:HGNC:23204, HumanCyc Gene:HS14292, ModBase:Q8IZU9, NCBI Gene:84623, OMIM:607761, OMIM:612581, RefSeq DNA:NG_012971, RefSeq DNA:NT_033899, RefSeq Protein:NP_001155179, RefSeq Protein:NP_115920, RefSeq RNA:NM_001161707, RefSeq RNA:NM_032531, UniProtKB:Q8IZU9 No chr11 126293388 126870766 126423493 127003460 +PA142671130 283165 HGNC:26855 ENSG00000218109 KIRREL3 antisense RNA 3 KIRREL3-AS3 FLJ40224 Yes No Ensembl:ENSG00000218109, GeneCard:PRR10, HGNC:HGNC:26855, NCBI Gene:283165, RefSeq DNA:NT_033899, RefSeq RNA:NR_040078, RefSeq RNA:XR_039964, RefSeq RNA:XR_039965, RefSeq RNA:XR_039966 No chr11 126872805 126875953 127002910 127006058 +PA30127 3814 HGNC:6341 ENSG00000170498 KiSS-1 metastasis suppressor KISS1 KiSS-1 metastasis-suppressor, kisspeptin, prepro-kisspeptin Yes No Comparative Toxicogenomics Database:3814, Ensembl:ENSG00000170498, GenAtlas:KISS1, GeneCard:KISS1, HGNC:HGNC:6341, HumanCyc Gene:HS10139, NCBI Gene:3814, OMIM:603286, RefSeq DNA:NT_004487, RefSeq Protein:NP_002247, RefSeq RNA:NM_002256, UCSC Genome Browser:NM_002256, UniProtKB:A8K6N0, UniProtKB:Q15726 No chr1 204159469 204165619 204190341 204196491 +PA28899 84634 HGNC:4510 ENSG00000116014 KISS1 receptor KISS1R AXOR12, GPR54, HOT7T175 Yes No Comparative Toxicogenomics Database:84634, Ensembl:ENSG00000116014, GenAtlas:KISS1R, GeneCard:KISS1R, HGNC:HGNC:4510, HumanCyc Gene:HS03968, IUPHAR Receptor:266, ModBase:Q969F8, NCBI Gene:84634, OMIM:146110, OMIM:176400, OMIM:604161, RefSeq DNA:NG_008277, RefSeq DNA:NT_011255, RefSeq Protein:NP_115940, RefSeq RNA:NM_032551, UCSC Genome Browser:NM_032551, UniProtKB:Q969F8 No chr19 917342 921015 916693 921015 +PA30128 3815 HGNC:6342 ENSG00000157404 KIT proto-oncogene, receptor tyrosine kinase KIT KIT proto-oncogene receptor tyrosine kinase, mast/stem cell growth factor receptor Kit, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog C-Kit, CD117, PBT, SCFR Yes Yes Comparative Toxicogenomics Database:3815, Ensembl:ENSG00000157404, GenAtlas:KIT, GeneCard:KIT, HGNC:HGNC:6342, HumanCyc Gene:HS08211, ModBase:P10721, NCBI Gene:3815, OMIM:164920, OMIM:172800, OMIM:273300, OMIM:601626, OMIM:606764, RefSeq DNA:NG_007456, RefSeq DNA:NT_022853, RefSeq Protein:NP_000213, RefSeq Protein:NP_001087241, RefSeq RNA:NM_000222, RefSeq RNA:NM_001093772, UCSC Genome Browser:NM_000222, UniProtKB:P10721, UniProtKB:Q6IQ28 No chr4 55524095 55606881 54657928 54740715 +PA30129 4254 HGNC:6343 ENSG00000049130 KIT ligand KITLG familial progressive hyperpigmentation 2, mast cell growth factor, steel factor, stem cell factor DFNA69, FPH2, KL-1, Kitl, MGF, SCF, SF, SLF Yes No Comparative Toxicogenomics Database:4254, Ensembl:ENSG00000049130, GenAtlas:KITLG, GeneCard:KITLG, HGNC:HGNC:6343, HumanCyc Gene:HS00611, ModBase:P21583, NCBI Gene:4254, OMIM:145250, OMIM:184745, OMIM:611664, RefSeq DNA:NG_012098, RefSeq DNA:NT_029419, RefSeq Protein:NP_000890, RefSeq Protein:NP_003985, RefSeq RNA:NM_000899, RefSeq RNA:NM_003994, UCSC Genome Browser:NM_000899, UniProtKB:P21583 No chr12 88886570 88974250 88492793 88580473 +PA165392491 55857 HGNC:15865 ENSG00000088970 kizuna centrosomal protein KIZ polo-like kinase 1 substrate 1 C20orf19, HT013, Kiz, Kizuna, NCRNA00153, PLK1S1 Yes No Ensembl:ENSG00000088970, GeneCard:PLK1S1, HGNC:HGNC:15865, HumanCyc Gene:HS12316, NCBI Gene:55857, RefSeq DNA:NT_011387, RefSeq Protein:NP_001156494, RefSeq Protein:NP_001156495, RefSeq Protein:NP_060944, RefSeq RNA:NM_001163022, RefSeq RNA:NM_001163023, RefSeq RNA:NM_018474, UniProtKB:Q2M2Z5 No chr20 21106624 21227260 21125980 21246628 +PA30130 9365 HGNC:6344 ENSG00000133116 klotho KL alpha-klotho KLA Yes Yes Comparative Toxicogenomics Database:9365, Ensembl:ENSG00000133116, GenAtlas:KL, GeneCard:KL, HGNC:HGNC:6344, HumanCyc Gene:HS05739, ModBase:Q9UEF7, NCBI Gene:9365, OMIM:211900, OMIM:604824, RefSeq DNA:NG_011485, RefSeq DNA:NT_024524, RefSeq Protein:NP_004786, RefSeq RNA:NM_004795, UCSC Genome Browser:NM_004795, UniProtKB:Q9UEF7 No chr13 33590571 33640282 33016063 33066145 +PA142671586 152831 HGNC:15527 ENSG00000134962 klotho beta KLB b-Klotho, beta-klotho, betaKlotho Yes Yes Comparative Toxicogenomics Database:152831, Ensembl:ENSG00000134962, GeneCard:KLB, HGNC:HGNC:15527, ModBase:Q86Z14, NCBI Gene:152831, OMIM:611135, RefSeq DNA:NT_016297, RefSeq Protein:NP_783864, RefSeq RNA:NM_175737, UniProtKB:B4DYH5, UniProtKB:Q86Z14 No chr4 39408473 39453153 39406853 39451533 +PA162393424 3831 HGNC:6387 ENSG00000126214 kinesin light chain 1 KLC1 KLC, KNS2, KNS2A, hKLC1B, hKLC1G, hKLC1J, hKLC1N, hKLC1P, hKLC1R, hKLC1S Yes Yes Ensembl:ENSG00000126214, GeneCard:KLC1, HGNC:HGNC:6387, HumanCyc Gene:HS04996, ModBase:Q96H62, NCBI Gene:3831, OMIM:600025, RefSeq DNA:NG_012307, RefSeq DNA:NT_026437, RefSeq Protein:NP_001123579, RefSeq Protein:NP_005543, RefSeq Protein:NP_891553, RefSeq RNA:NM_001130107, RefSeq RNA:NM_005552, RefSeq RNA:NM_182923, UniProtKB:Q07866, UniProtKB:Q7RTQ2, UniProtKB:Q7RTQ3 No chr14 104095525 104167888 103629188 103701551 +PA142671587 64837 HGNC:20716 ENSG00000174996 kinesin light chain 2 KLC2 FLJ12387 Yes No Comparative Toxicogenomics Database:64837, Ensembl:ENSG00000174996, GeneCard:KLC2, HGNC:HGNC:20716, HumanCyc Gene:HS10864, ModBase:Q9H0B6, NCBI Gene:64837, OMIM:611729, RefSeq DNA:NT_167190, RefSeq Protein:NP_001128246, RefSeq Protein:NP_001128247, RefSeq Protein:NP_001128248, RefSeq Protein:NP_073733, RefSeq RNA:NM_001134774, RefSeq RNA:NM_001134775, RefSeq RNA:NM_001134776, RefSeq RNA:NM_022822, UniProtKB:A8MXL7, UniProtKB:Q9H0B6 No chr11 66024765 66035332 66257294 66267861 +PA142671588 147700 HGNC:20717 ENSG00000104892 kinesin light chain 3 KLC3 KLC2L, KLCt, KNS2B Yes Yes Comparative Toxicogenomics Database:147700, Ensembl:ENSG00000104892, GeneCard:KLC3, HGNC:HGNC:20717, HumanCyc Gene:HS02646, ModBase:Q6P597, NCBI Gene:147700, OMIM:601334, RefSeq DNA:NT_011109, RefSeq Protein:NP_803136, RefSeq RNA:NM_177417, UniProtKB:Q6P597 No chr19 45843998 45854864 45340740 45351520 +PA134934134 89953 HGNC:21624 ENSG00000137171 kinesin light chain 4 KLC4 KNSL8, bA387M24.3 Yes No Comparative Toxicogenomics Database:89953, Ensembl:ENSG00000137171, GeneCard:KLC4, HGNC:HGNC:21624, HumanCyc Gene:HS06282, ModBase:Q9NSK0, NCBI Gene:89953, RefSeq DNA:NT_007592, RefSeq Protein:NP_612352, RefSeq Protein:NP_958929, RefSeq Protein:NP_958930, RefSeq Protein:NP_958931, RefSeq RNA:NM_138343, RefSeq RNA:NM_201521, RefSeq RNA:NM_201522, RefSeq RNA:NM_201523, UniProtKB:Q96EG6, UniProtKB:Q9NSK0 No chr6 43027372 43042833 43059594 43075099 +PA30131 10661 HGNC:6345 ENSG00000105610 KLF transcription factor 1 KLF1 Kruppel like factor 1, Kruppel-like factor 1 (erythroid), erythroid Kruppel-like factor EKLF Yes No Comparative Toxicogenomics Database:10661, Ensembl:ENSG00000105610, GenAtlas:KLF1, GeneCard:KLF1, HGNC:HGNC:6345, HumanCyc Gene:HS02771, ModBase:Q13351, NCBI Gene:10661, OMIM:111150, OMIM:600599, RefSeq DNA:NG_013087, RefSeq DNA:NT_011295, RefSeq Protein:NP_006554, RefSeq RNA:NM_006563, UCSC Genome Browser:NM_006563, UniProtKB:Q13351 No chr19 12995236 12998017 12884422 12887203 +PA36517 7071 HGNC:11810 ENSG00000155090 KLF transcription factor 10 KLF10 Kruppel like factor 10, Kruppel-like factor 10, early growth response alpha EGRA, TIEG, TIEG1 Yes No Comparative Toxicogenomics Database:7071, Ensembl:ENSG00000155090, GenAtlas:KLF10, GeneCard:KLF10, HGNC:HGNC:11810, HumanCyc Gene:HS08028, ModBase:Q13118, NCBI Gene:7071, OMIM:601878, RefSeq DNA:NT_008046, RefSeq Protein:NP_001027453, RefSeq Protein:NP_005646, RefSeq RNA:NM_001032282, RefSeq RNA:NM_005655, UCSC Genome Browser:NM_005655, UniProtKB:O75411, UniProtKB:Q13118 No chr8 103661005 103668130 102648777 102655902 +PA36518 8462 HGNC:11811 ENSG00000172059 KLF transcription factor 11 KLF11 Kruppel like factor 11, Kruppel-like factor 11 FKLF, MODY7, TIEG2, Tieg3 Yes No Comparative Toxicogenomics Database:8462, Ensembl:ENSG00000172059, GenAtlas:KLF11, GeneCard:KLF11, HGNC:HGNC:11811, HumanCyc Gene:HS10444, ModBase:O14901, NCBI Gene:8462, OMIM:603301, OMIM:610508, RefSeq DNA:NG_017199, RefSeq DNA:NT_005334, RefSeq Protein:NP_001171187, RefSeq Protein:NP_001171189, RefSeq Protein:NP_003588, RefSeq RNA:NM_001177716, RefSeq RNA:NM_001177718, RefSeq RNA:NM_003597, UCSC Genome Browser:NM_003597, UniProtKB:B4DZE7, UniProtKB:B7ZAX4, UniProtKB:O14901, UniProtKB:Q53QU8 No chr2 10170776 10194963 10043555 10054836 +PA30132 11278 HGNC:6346 ENSG00000118922 KLF transcription factor 12 KLF12 AP-2 repressor, AP-2rep transcription factor, KLF12 zinc finger transcriptional repressor, Kruppel like factor 12, Kruppel-like factor 12 AP-2rep, AP2REP, HSPC122 Yes No Comparative Toxicogenomics Database:11278, Ensembl:ENSG00000118922, GenAtlas:KLF12, GeneCard:KLF12, HGNC:HGNC:6346, HumanCyc Gene:HS04260, ModBase:Q9Y4X4, NCBI Gene:11278, OMIM:607531, RefSeq DNA:NT_024524, RefSeq Protein:NP_009180, RefSeq RNA:NM_007249, UCSC Genome Browser:NM_007249, UniProtKB:Q8WWI3, UniProtKB:Q9Y4X4 No chr13 74260149 74708400 73686012 74168295 +PA30133 51621 HGNC:13672 ENSG00000169926 KLF transcription factor 13 KLF13 Kruppel like factor 13, Kruppel-like factor 13 BTEB3, FKLF-2, NSLP1, RFLAT-1 Yes No Comparative Toxicogenomics Database:51621, Ensembl:ENSG00000169926, GenAtlas:KLF13, GeneCard:KLF13, HGNC:HGNC:13672, HumanCyc Gene:HS10037, ModBase:Q9Y2Y9, NCBI Gene:51621, OMIM:605328, RefSeq DNA:NT_010194, RefSeq Protein:NP_057079, RefSeq RNA:NM_015995, UCSC Genome Browser:NM_015995, UniProtKB:Q9Y2Y9 No chr15 31619083 31670102 31326855 31435665 +PA134868089 136259 HGNC:23025 ENSG00000266265 KLF transcription factor 14 KLF14 Kruppel like factor 14, Kruppel-like factor 14, basic transcription element-binding protein 5 BTEB5 Yes No Ensembl:ENSG00000266265, GeneCard:KLF14, HGNC:HGNC:23025, HumanCyc Gene:HS16370, ModBase:Q8TD94, NCBI Gene:136259, OMIM:609393, RefSeq DNA:NG_016152, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_619638, RefSeq RNA:NM_138693, UniProtKB:A4D1N0, UniProtKB:Q8TD94 No chr7 130417382 130418860 130732554 130734033 +PA30134 28999 HGNC:14536 ENSG00000163884 KLF transcription factor 15 KLF15 Kruppel like factor 15, Kruppel-like factor 15, kidney-enriched Kruppel-like factor KKLF Yes No Comparative Toxicogenomics Database:28999, Ensembl:ENSG00000163884, GenAtlas:KLF15, GeneCard:KLF15, HGNC:HGNC:14536, HumanCyc Gene:HS08960, ModBase:Q9UIH9, NCBI Gene:28999, OMIM:606465, RefSeq DNA:NT_005612, RefSeq Protein:NP_054798, RefSeq RNA:NM_014079, UCSC Genome Browser:NM_014079, UniProtKB:Q9UIH9 No chr3 126061478 126076236 126288121 126357393 +PA30135 83855 HGNC:16857 ENSG00000129911 KLF transcription factor 16 KLF16 Kruppel like factor 16, Kruppel-like factor 16 BTEB4, DRRF, NSLP2 Yes No Comparative Toxicogenomics Database:83855, Ensembl:ENSG00000129911, GenAtlas:KLF16, GeneCard:KLF16, HGNC:HGNC:16857, HumanCyc Gene:HS05316, ModBase:Q9BXK1, NCBI Gene:83855, OMIM:606139, RefSeq DNA:NT_011255, RefSeq Protein:NP_114124, RefSeq RNA:NM_031918, UCSC Genome Browser:NM_031918, UniProtKB:Q9BXK1 No chr19 1852398 1863564 1852399 1863565 +PA134877071 128209 HGNC:18830 ENSG00000171872 KLF transcription factor 17 KLF17 Kruppel like factor 17, Kruppel-like factor 17 FLJ40160, ZNF393, Zfp393 Yes No Comparative Toxicogenomics Database:128209, Ensembl:ENSG00000171872, GeneCard:KLF17, HGNC:HGNC:18830, HumanCyc Gene:HS16033, ModBase:Q5JT82, NCBI Gene:128209, OMIM:609602, RefSeq DNA:NT_032977, RefSeq Protein:NP_775755, RefSeq RNA:NM_173484, UniProtKB:Q5JT82 No chr1 44513987 44600812 44043927 44135140 +PA166181550 105378952 HGNC:51793 ENSG00000283039 KLF transcription factor 18 KLF18 Kruppel like factor 18 Yes No Ensembl:ENSG00000283039, HGNC:HGNC:51793, NCBI Gene:105378952 No 0 0 0 0 +PA30136 10365 HGNC:6347 ENSG00000127528 KLF transcription factor 2 KLF2 Kruppel like factor 2, Kruppel-like factor 2, Kruppel-like factor 2 (lung), lung Kruppel-like factor LKLF Yes No Comparative Toxicogenomics Database:10365, Ensembl:ENSG00000127528, GenAtlas:KLF2, GeneCard:KLF2, HGNC:HGNC:6347, ModBase:Q9Y5W3, NCBI Gene:10365, OMIM:602016, RefSeq DNA:NT_011295, RefSeq Protein:NP_057354, RefSeq RNA:NM_016270, UCSC Genome Browser:NM_016270, UniProtKB:Q8IUN4, UniProtKB:Q9Y5W3 No chr19 16435651 16438345 16324826 16328662 +PA30137 51274 HGNC:16516 ENSG00000109787 KLF transcription factor 3 KLF3 Kruppel like factor 3, Kruppel-like factor 3 (basic), basic Kruppel-like factor BKLF Yes No Comparative Toxicogenomics Database:51274, Ensembl:ENSG00000109787, GenAtlas:KLF3, GeneCard:KLF3, HGNC:HGNC:16516, HumanCyc Gene:HS03258, ModBase:P57682, NCBI Gene:51274, OMIM:609392, RefSeq DNA:NT_016297, RefSeq Protein:NP_057615, RefSeq RNA:NM_016531, UCSC Genome Browser:NM_016531, UniProtKB:P57682 No chr4 38665790 38703129 38664050 38701508 +PA30138 9314 HGNC:6348 ENSG00000136826 KLF transcription factor 4 KLF4 Kruppel like factor 4, Kruppel-like factor 4 (gut), gut Kruppel-like factor EZF, GKLF Yes Yes Comparative Toxicogenomics Database:9314, Ensembl:ENSG00000136826, GenAtlas:KLF4, GeneCard:KLF4, HGNC:HGNC:6348, HumanCyc Gene:HS06218, NCBI Gene:9314, OMIM:602253, RefSeq DNA:NT_008470, RefSeq Protein:NP_004226, RefSeq RNA:NM_004235, UCSC Genome Browser:NM_004235, UniProtKB:O43474 No chr9 110247133 110252047 107484852 107489720 +PA30139 688 HGNC:6349 ENSG00000102554 KLF transcription factor 5 KLF5 (intestinal Kruppel-like factor, Kruppel like factor 5, Kruppel-like factor 5 (intestinal), intestinal Kruppel-like factor BTEB2, CKLF, IKLF Yes No Comparative Toxicogenomics Database:688, Ensembl:ENSG00000102554, GenAtlas:KLF5, GeneCard:KLF5, HGNC:HGNC:6349, HumanCyc Gene:HS02396, ModBase:Q13887, NCBI Gene:688, OMIM:602903, RefSeq DNA:NT_024524, RefSeq Protein:NP_001721, RefSeq RNA:NM_001730, UCSC Genome Browser:NM_001730, UniProtKB:Q13887, UniProtKB:Q5T6X2 No chr13 73629114 73651676 73054976 73077542 +PA26751 1316 HGNC:2235 ENSG00000067082 KLF transcription factor 6 KLF6 GC-rich binding factor, Kruppel like factor 6, Kruppel-like factor 6 BCD1, COPEB, CPBP, GBF, PAC1, ST12, Zf9 Yes No Comparative Toxicogenomics Database:1316, Ensembl:ENSG00000067082, GenAtlas:KLF6, GeneCard:KLF6, HGNC:HGNC:2235, HumanCyc Gene:HS00897, ModBase:Q99612, NCBI Gene:1316, OMIM:137215, OMIM:176807, OMIM:602053, RefSeq DNA:NG_012277, RefSeq DNA:NT_008705, RefSeq Protein:NP_001153596, RefSeq Protein:NP_001153597, RefSeq Protein:NP_001291, RefSeq RNA:NM_001160124, RefSeq RNA:NM_001160125, RefSeq RNA:NM_001300, RefSeq RNA:NR_027653, UCSC Genome Browser:NM_001300, UniProtKB:Q99612 No chr10 3818188 3827473 3775996 3785281 +PA30140 8609 HGNC:6350 ENSG00000118263 KLF transcription factor 7 KLF7 Kruppel like factor 7, Kruppel-like factor 7 (ubiquitous), ubiquitous Kruppel-like factor UKLF Yes No Comparative Toxicogenomics Database:8609, Ensembl:ENSG00000118263, GenAtlas:KLF7, GeneCard:KLF7, HGNC:HGNC:6350, HumanCyc Gene:HS04207, ModBase:O75840, NCBI Gene:8609, OMIM:604865, RefSeq DNA:NT_005403, RefSeq Protein:NP_003700, RefSeq RNA:NM_003709, UCSC Genome Browser:NM_003709, UniProtKB:O75840 No chr2 207938861 208031970 207074137 207173851 +PA30141 11279 HGNC:6351 ENSG00000102349 KLF transcription factor 8 KLF8 Kruppel like factor 8, Kruppel-like factor 8 BKLF3, DXS741, ZNF741 Yes No Comparative Toxicogenomics Database:11279, Ensembl:ENSG00000102349, GenAtlas:KLF8, GeneCard:KLF8, HGNC:HGNC:6351, HumanCyc Gene:HS02383, ModBase:O95600, NCBI Gene:11279, OMIM:300286, RefSeq DNA:NG_011949, RefSeq DNA:NT_011630, RefSeq Protein:NP_001152768, RefSeq Protein:NP_009181, RefSeq RNA:NM_001159296, RefSeq RNA:NM_007250, UCSC Genome Browser:NM_007250, UniProtKB:B4DJN3, UniProtKB:O95600 No chrX 56258814 56314322 55908123 56291531 +PA25444 687 HGNC:1123 ENSG00000119138 KLF transcription factor 9 KLF9 Kruppel like factor 9, Kruppel-like factor 9 BTEB1 Yes No Comparative Toxicogenomics Database:687, Ensembl:ENSG00000119138, GenAtlas:KLF9, GeneCard:KLF9, HGNC:HGNC:1123, HumanCyc Gene:HS04277, ModBase:Q13886, NCBI Gene:687, OMIM:602902, RefSeq DNA:NT_008470, RefSeq Protein:NP_001197, RefSeq RNA:NM_001206, UCSC Genome Browser:NM_001206, UniProtKB:Q13886 No chr9 72999513 73029573 70384597 70414657 +PA134938689 122773 HGNC:19836 ENSG00000197776 kelch domain containing 1 KLHDC1 MST025 Yes No Ensembl:ENSG00000197776, GeneCard:KLHDC1, HGNC:HGNC:19836, ModBase:Q8N7A1, NCBI Gene:122773, OMIM:611281, RefSeq DNA:NT_026437, RefSeq Protein:NP_751943, RefSeq RNA:NM_172193, UniProtKB:Q8N7A1 No chr14 50159823 50219870 49693105 49753152 +PA164721976 23008 HGNC:22194 ENSG00000128607 kelch domain containing 10 KLHDC10 scruin like at the midline homolog (Drosophila) KIAA0265, slim Yes No Ensembl:ENSG00000128607, GeneCard:KLHDC10, HGNC:HGNC:22194, ModBase:Q6PID8, NCBI Gene:23008, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_055812, RefSeq Protein:XP_002342796, RefSeq Protein:XP_002344431, RefSeq Protein:XP_002348303, RefSeq RNA:NM_014997, RefSeq RNA:XM_002342755, RefSeq RNA:XM_002344390, RefSeq RNA:XM_002348262, UniProtKB:Q6PID8 No chr7 129710349 129775560 130070509 130135720 +PA134924955 23588 HGNC:20231 ENSG00000165516 kelch domain containing 2 KLHDC2 HCLP-1, LCP Yes No Comparative Toxicogenomics Database:23588, Ensembl:ENSG00000165516, GeneCard:KLHDC2, HGNC:HGNC:20231, HumanCyc Gene:HS15336, ModBase:Q9Y2U9, NCBI Gene:23588, OMIM:611280, RefSeq DNA:NT_026437, RefSeq Protein:NP_055130, RefSeq RNA:NM_014315, UniProtKB:Q9Y2U9 No chr14 50234787 50249856 49767589 49785706 +PA134892782 116138 HGNC:20704 ENSG00000124702 kelch domain containing 3 KLHDC3 PEAS, dJ20C7.3, hPeas Yes No Ensembl:ENSG00000124702, GeneCard:KLHDC3, HGNC:HGNC:20704, HumanCyc Gene:HS13143, ModBase:Q9BQ90, NCBI Gene:116138, OMIM:611248, RefSeq DNA:NT_007592, RefSeq Protein:NP_001229801, RefSeq Protein:NP_476502, RefSeq RNA:NM_001242872, RefSeq RNA:NM_057161, RefSeq RNA:NR_040101, UniProtKB:Q9BQ90 No chr6 42981841 42989036 43014103 43021298 +PA134914472 54758 HGNC:25272 ENSG00000104731 kelch domain containing 4 KLHDC4 DKFZp434G0522 Yes No Comparative Toxicogenomics Database:54758, Ensembl:ENSG00000104731, GeneCard:KLHDC4, HGNC:HGNC:25272, HumanCyc Gene:HS12557, ModBase:Q8TBB5, NCBI Gene:54758, RefSeq DNA:NT_010498, RefSeq Protein:NP_001171783, RefSeq Protein:NP_001171785, RefSeq Protein:NP_060036, RefSeq RNA:NM_001184854, RefSeq RNA:NM_001184856, RefSeq RNA:NM_017566, UniProtKB:Q8TBB5 No chr16 87730239 87799603 87693537 87765997 +PA142671581 127707 HGNC:26791 ENSG00000179023 kelch domain containing 7A KLHDC7A FLJ38753 Yes No Comparative Toxicogenomics Database:127707, Ensembl:ENSG00000179023, GeneCard:KLHDC7A, HGNC:HGNC:26791, HumanCyc Gene:HS17177, NCBI Gene:127707, RefSeq DNA:NT_004610, RefSeq Protein:NP_689588, RefSeq RNA:NM_152375, UniProtKB:Q5VTJ3 No chr1 18807424 18812540 18480930 18485999 +PA142671582 113730 HGNC:25145 ENSG00000130487 kelch domain containing 7B KLHDC7B MGC16635 Yes No Ensembl:ENSG00000130487, GeneCard:KLHDC7B, HGNC:HGNC:25145, HumanCyc Gene:HS13335, ModBase:Q96G42, NCBI Gene:113730, RefSeq DNA:NT_011526, RefSeq Protein:NP_612442, RefSeq RNA:NM_138433, UniProtKB:Q96G42 No chr22 50986462 50989452 50548033 50551023 +PA142671583 55220 HGNC:25573 ENSG00000162873 kelch domain containing 8A KLHDC8A FLJ10748 Yes No Ensembl:ENSG00000162873, GeneCard:KLHDC8A, HGNC:HGNC:25573, HumanCyc Gene:HS14981, ModBase:Q8IYD2, NCBI Gene:55220, RefSeq DNA:NT_004487, RefSeq Protein:NP_060673, RefSeq RNA:NM_018203, UniProtKB:Q8IYD2 No chr1 205305193 205326218 205336065 205357090 +PA142671584 200942 HGNC:28557 ENSG00000185909 kelch domain containing 8B KLHDC8B MGC35097 Yes No Comparative Toxicogenomics Database:200942, Ensembl:ENSG00000185909, GeneCard:KLHDC8B, HGNC:HGNC:28557, ModBase:Q8IXV7, NCBI Gene:200942, OMIM:236000, OMIM:613169, RefSeq DNA:NT_022517, RefSeq Protein:NP_775817, RefSeq RNA:NM_173546, UniProtKB:Q8IXV7 No chr3 49208987 49213919 49171120 49176487 +PA162393459 126823 HGNC:28489 ENSG00000162755 kelch domain containing 9 KLHDC9 kelch/ankyrin repeat containing cyclin A1 interacting protein KARCA1 Yes No Ensembl:ENSG00000162755, GeneCard:KLHDC9, HGNC:HGNC:28489, ModBase:Q8NEP7, NCBI Gene:126823, RefSeq DNA:NT_004487, RefSeq Protein:NP_001007256, RefSeq Protein:NP_001007257, RefSeq Protein:NP_689579, RefSeq RNA:NM_001007255, RefSeq RNA:NM_001007256, RefSeq RNA:NM_152366, RefSeq RNA:NR_033385, RefSeq RNA:NR_033386, UniProtKB:Q8NEP7 No chr1 161068151 161070138 161098361 161100348 +PA30142 57626 HGNC:6352 ENSG00000150361 kelch like family member 1 KLHL1 Kelch-like protein 1, Mayven-related protein 2, kelch-like family member 1 FLJ30047, KIAA1490, MRP2 Yes No Ensembl:ENSG00000150361, GenAtlas:KLHL1, GeneCard:KLHL1, HGNC:HGNC:6352, HumanCyc Gene:HS07665, ModBase:Q9NR64, NCBI Gene:57626, OMIM:605332, RefSeq DNA:NT_024524, RefSeq Protein:NP_065917, RefSeq RNA:NM_020866, UCSC Genome Browser:NM_020866, UniProtKB:Q8TBJ7, UniProtKB:Q9NR64 No chr13 70274725 70682625 69700593 70108493 +PA134969977 317719 HGNC:18829 ENSG00000161594 kelch like family member 10 KLHL10 kelch-like family member 10 FLJ32662 Yes No Comparative Toxicogenomics Database:317719, Ensembl:ENSG00000161594, GeneCard:KLHL10, HGNC:HGNC:18829, ModBase:Q6JEL2, NCBI Gene:317719, OMIM:608778, RefSeq DNA:NT_010783, RefSeq Protein:NP_689680, RefSeq RNA:NM_152467, UniProtKB:Q6JEL2 No chr17 39992572 40004599 41835685 41848347 +PA38777 55175 HGNC:19008 ENSG00000178502 kelch like family member 11 KLHL11 kelch-like family member 11 FLJ10572 Yes No Comparative Toxicogenomics Database:55175, Ensembl:ENSG00000178502, GenAtlas:KLHL11, GeneCard:KLHL11, HGNC:HGNC:19008, HumanCyc Gene:HS11291, ModBase:Q9NVR0, NCBI Gene:55175, RefSeq DNA:NT_010783, RefSeq Protein:NP_060613, RefSeq RNA:NM_018143, UniProtKB:Q9NVR0 No chr17 40009799 40021629 41848518 41865431 +PA134952416 59349 HGNC:19360 ENSG00000117153 kelch like family member 12 KLHL12 kelch-like family member 12 C3IP1 Yes No Ensembl:ENSG00000117153, GeneCard:KLHL12, HGNC:HGNC:19360, HumanCyc Gene:HS04102, ModBase:Q53G59, NCBI Gene:59349, RefSeq DNA:NT_004487, RefSeq Protein:NP_067646, RefSeq RNA:NM_021633, UniProtKB:Q53G59 No chr1 202860230 202897766 202891096 202928644 +PA134959204 90293 HGNC:22931 ENSG00000003096 kelch like family member 13 KLHL13 kelch-like family member 13 BKLHD2, FLJ10262, KIAA1309 Yes No Comparative Toxicogenomics Database:90293, Ensembl:ENSG00000003096, GeneCard:KLHL13, HGNC:HGNC:22931, HumanCyc Gene:HS00090, ModBase:Q9P2N7, NCBI Gene:90293, OMIM:300655, RefSeq DNA:NG_016759, RefSeq DNA:NT_011786, RefSeq Protein:NP_001161771, RefSeq Protein:NP_001161772, RefSeq Protein:NP_001161773, RefSeq Protein:NP_001161774, RefSeq Protein:NP_001161775, RefSeq Protein:NP_277030, RefSeq RNA:NM_001168299, RefSeq RNA:NM_001168300, RefSeq RNA:NM_001168301, RefSeq RNA:NM_001168302, RefSeq RNA:NM_001168303, RefSeq RNA:NM_033495, UniProtKB:B7ZB44, UniProtKB:Q96HC9, UniProtKB:Q9P2N7 No chrX 117031776 117251303 117897813 118117340 +PA134945930 57565 HGNC:29266 ENSG00000197705 kelch like family member 14 KLHL14 kelch-like family member 14, printor KIAA1384 Yes No Comparative Toxicogenomics Database:57565, Ensembl:ENSG00000197705, GeneCard:KLHL14, HGNC:HGNC:29266, ModBase:Q9P2G3, NCBI Gene:57565, RefSeq DNA:NT_010966, RefSeq Protein:NP_065856, RefSeq RNA:NM_020805, UniProtKB:Q9P2G3 No chr18 30252634 30353815 32672673 32773011 +PA134934728 80311 HGNC:29347 ENSG00000174010 kelch like family member 15 KLHL15 kelch-like family member 15 KIAA1677 Yes No Comparative Toxicogenomics Database:80311, Ensembl:ENSG00000174010, GeneCard:KLHL15, HGNC:HGNC:29347, ModBase:Q96M94, NCBI Gene:80311, RefSeq DNA:NG_012625, RefSeq DNA:NT_167197, RefSeq Protein:NP_085127, RefSeq RNA:NM_030624, UniProtKB:Q96M94 No chrX 24001833 24045303 23983716 24027186 +PA134887396 339451 HGNC:24023 ENSG00000187961 kelch like family member 17 KLHL17 actinfilin, kelch-like family member 17 Yes No Ensembl:ENSG00000187961, GeneCard:KLHL17, HGNC:HGNC:24023, ModBase:Q6TDP4, NCBI Gene:339451, RefSeq DNA:NT_004350, RefSeq Protein:NP_938073, RefSeq RNA:NM_198317, UniProtKB:Q6TDP4 No chr1 895967 901099 960103 965719 +PA134920201 23276 HGNC:29120 ENSG00000114648 kelch like family member 18 KLHL18 kelch-like family member 18 FLJ13703, KIAA0795 Yes No Ensembl:ENSG00000114648, GeneCard:KLHL18, HGNC:HGNC:29120, HumanCyc Gene:HS12820, ModBase:O94889, NCBI Gene:23276, RefSeq DNA:NT_022517, RefSeq Protein:NP_079286, RefSeq RNA:NM_025010, UniProtKB:O94889 No chr3 47324116 47388306 47282840 47346816 +PA30143 11275 HGNC:6353 ENSG00000109466 kelch like family member 2 KLHL2 kelch-like family member 2, mayven MAV Yes No Ensembl:ENSG00000109466, GenAtlas:KLHL2, GeneCard:KLHL2, HGNC:HGNC:6353, HumanCyc Gene:HS03229, ModBase:O95198, NCBI Gene:11275, OMIM:605774, RefSeq DNA:NT_016354, RefSeq Protein:NP_001154993, RefSeq Protein:NP_001154994, RefSeq Protein:NP_009177, RefSeq RNA:NM_001161521, RefSeq RNA:NM_001161522, RefSeq RNA:NM_007246, UCSC Genome Browser:NM_007246, UniProtKB:B4DFH7, UniProtKB:O95198 No chr4 166128770 166244308 165207618 165323156 +PA134982126 27252 HGNC:25056 ENSG00000076321 kelch like family member 20 KLHL20 kelch-like family member 20 KHLHX, KLEIP Yes No Ensembl:ENSG00000076321, GeneCard:KLHL20, HGNC:HGNC:25056, HumanCyc Gene:HS01206, ModBase:Q9Y2M5, NCBI Gene:27252, RefSeq DNA:NT_004487, RefSeq Protein:NP_055273, RefSeq RNA:NM_014458, UniProtKB:Q9Y2M5 No chr1 173684063 173755960 173714912 173786826 +PA134989246 9903 HGNC:29041 ENSG00000162413 kelch like family member 21 KLHL21 kelch-like family member 21 KIAA0469 Yes No Comparative Toxicogenomics Database:9903, Ensembl:ENSG00000162413, GeneCard:KLHL21, HGNC:HGNC:29041, HumanCyc Gene:HS08673, ModBase:Q9UJP4, NCBI Gene:9903, RefSeq DNA:NT_021937, RefSeq Protein:NP_055666, RefSeq RNA:NM_014851, UniProtKB:Q9UJP4 No chr1 6650784 6662958 6590724 6602898 +PA142671574 84861 HGNC:25888 ENSG00000099910 kelch like family member 22 KLHL22 kelch-like family member 22 FLJ14360, KELCHL Yes No Comparative Toxicogenomics Database:84861, Ensembl:ENSG00000099910, GeneCard:KLHL22, HGNC:HGNC:25888, ModBase:Q53GT1, NCBI Gene:84861, RefSeq DNA:NT_011520, RefSeq Protein:NP_116164, RefSeq RNA:NM_032775, RefSeq RNA:NR_033825, UniProtKB:Q53GT1 No chr22 20795806 20850170 20441519 20496249 +PA142671575 151230 HGNC:27506 ENSG00000213160 kelch like family member 23 KLHL23 kelch-like family member 23 FLJ37812, MGC22679, MGC2610 Yes No Ensembl:ENSG00000213160, GeneCard:KLHL23, HGNC:HGNC:27506, HumanCyc Gene:HS16094, ModBase:Q8NBE8, NCBI Gene:151230, RefSeq DNA:NT_005403, RefSeq Protein:NP_653312, RefSeq RNA:NM_144711, UniProtKB:Q8NBE8 No chr2 170590356 170608396 169733846 169751886 +PA142671576 54800 HGNC:25947 ENSG00000114796 kelch like family member 24 KLHL24 kelch-like family member 24 DRE1, FLJ20059, KRIP6 Yes No Comparative Toxicogenomics Database:54800, Ensembl:ENSG00000114796, GeneCard:KLHL24, HGNC:HGNC:25947, HumanCyc Gene:HS03801, ModBase:Q6TFL4, NCBI Gene:54800, OMIM:611295, RefSeq DNA:NT_005612, RefSeq Protein:NP_060114, RefSeq RNA:NM_017644, UniProtKB:Q6TFL4 No chr3 183353398 183402307 183635117 183684519 +PA142671577 64410 HGNC:25732 ENSG00000183655 kelch like family member 25 KLHL25 ectodermal-neural cortex 2, kelch-like family member 25 ENC-2, ENC2, FLJ12587 Yes No Comparative Toxicogenomics Database:64410, Ensembl:ENSG00000183655, GeneCard:KLHL25, HGNC:HGNC:25732, ModBase:Q9H0H3, NCBI Gene:64410, RefSeq DNA:NT_010274, RefSeq Protein:NP_071925, RefSeq RNA:NM_022480, UniProtKB:Q9H0H3 No chr15 86302557 86338189 85759326 85794958 +PA143485524 55295 HGNC:25623 ENSG00000167487 kelch like family member 26 KLHL26 kelch-like family member 26 Yes No Ensembl:ENSG00000167487, GeneCard:KLHL26, HGNC:HGNC:25623, HumanCyc Gene:HS09563, ModBase:Q53HC5, NCBI Gene:55295, RefSeq DNA:NT_011295, RefSeq Protein:NP_060786, RefSeq RNA:NM_018316, UniProtKB:Q53HC5 No chr19 18747835 18781308 18637028 18670492 +PA162393472 54813 HGNC:19741 ENSG00000179454 kelch like family member 28 KLHL28 kelch-like family member 28 BTBD5, FLJ20081 Yes No Ensembl:ENSG00000179454, GeneCard:KLHL28, HGNC:HGNC:19741, HumanCyc Gene:HS11385, ModBase:Q9NXS3, NCBI Gene:54813, RefSeq DNA:NT_026437, RefSeq Protein:NP_060128, RefSeq RNA:NM_017658, UniProtKB:Q9NXS3 No chr14 45393527 45431179 44924310 44961978 +PA162393486 114818 HGNC:29404 ENSG00000119771 kelch like family member 29 KLHL29 kelch-like family member 29 KBTBD9, KIAA1921 Yes No Ensembl:ENSG00000119771, GeneCard:KLHL29, HGNC:HGNC:29404, ModBase:Q96CT2, NCBI Gene:114818, RefSeq DNA:NT_022184, RefSeq Protein:NP_443152, RefSeq Protein:XP_001717506, RefSeq Protein:XP_001717585, RefSeq Protein:XP_945468, RefSeq RNA:NM_052920, RefSeq RNA:XM_001717454, RefSeq RNA:XM_001717533, RefSeq RNA:XM_940375, UniProtKB:Q96CT2 No chr2 23608298 23931483 23385419 23708613 +PA30144 26249 HGNC:6354 ENSG00000146021 kelch like family member 3 KLHL3 kelch-like family member 3 KIAA1129 Yes No Ensembl:ENSG00000146021, GenAtlas:KLHL3, GeneCard:KLHL3, HGNC:HGNC:6354, HumanCyc Gene:HS07313, ModBase:Q9UH77, NCBI Gene:26249, OMIM:605775, RefSeq DNA:NT_034772, RefSeq Protein:NP_059111, RefSeq RNA:NM_017415, UCSC Genome Browser:NM_017415, UniProtKB:Q9UH77 No chr5 136953189 137150310 137617500 137736090 +PA162393522 377007 HGNC:24770 ENSG00000168427 kelch like family member 30 KLHL30 kelch-like family member 30 FLJ43374 Yes No Ensembl:ENSG00000168427, GeneCard:KLHL30, HGNC:HGNC:24770, NCBI Gene:377007, RefSeq DNA:NT_005120, RefSeq Protein:NP_940984, RefSeq RNA:NM_198582, UniProtKB:Q0D2K2 No chr2 239047310 239061547 238138722 238152906 +PA134970047 394261 HGNC:31018 ENSG00000279484 KLHL30 antisense RNA 1 KLHL30-AS1 Yes No Ensembl:ENSG00000279484, GeneCard:KLHL30-AS1, HGNC:HGNC:31018, NCBI Gene:394261, RefSeq DNA:NT_005120, RefSeq Protein:NP_001019847, RefSeq RNA:NM_001024676 No chr2 +PA162393541 401265 HGNC:21353 ENSG00000124743 kelch like family member 31 KLHL31 kelch-like family member 31 BKLHD6, KBTBD1, bA345L23.2 Yes No Ensembl:ENSG00000124743, GeneCard:KLHL31, HGNC:HGNC:21353, ModBase:Q9H511, NCBI Gene:401265, OMIM:610749, RefSeq DNA:NT_007592, RefSeq Protein:NP_001003760, RefSeq RNA:NM_001003760, UniProtKB:Q9H511 No chr6 53512699 53530506 53647901 53665854 +PA162393552 114792 HGNC:21221 ENSG00000186231 kelch like family member 32 KLHL32 kelch-like family member 32 BKLHD5, KIAA1900 Yes No Ensembl:ENSG00000186231, GeneCard:KLHL32, HGNC:HGNC:21221, NCBI Gene:114792, RefSeq DNA:NT_025741, RefSeq Protein:NP_443136, RefSeq RNA:NM_052904, UniProtKB:Q96NJ5 No chr6 97372496 97588630 96898083 97142949 +PA162393579 123103 HGNC:31952 ENSG00000185271 kelch like family member 33 KLHL33 kelch-like family member 33 Yes No Ensembl:ENSG00000185271, GeneCard:KLHL33, HGNC:HGNC:31952, NCBI Gene:123103, RefSeq DNA:NT_026437, RefSeq Protein:NP_001103467, RefSeq RNA:NM_001109997, UniProtKB:A6NCF5, UniProtKB:B2RUZ8 No chr14 20895866 20904354 20425852 20436509 +PA162393594 257240 HGNC:26634 ENSG00000185915 kelch like family member 34 KLHL34 kelch-like family member 34 FLJ34960, RP11-450P7.3 Yes No Ensembl:ENSG00000185915, GeneCard:KLHL34, HGNC:HGNC:26634, ModBase:Q8N239, NCBI Gene:257240, RefSeq DNA:NT_167197, RefSeq Protein:NP_695002, RefSeq RNA:NM_153270, UniProtKB:Q8N239 No chrX 21673609 21676448 21655349 21658387 +PA162393595 283212 HGNC:26597 ENSG00000149243 kelch like family member 35 KLHL35 kelch-like family member 35 FLJ33790 Yes No Ensembl:ENSG00000149243, GeneCard:KLHL35, HGNC:HGNC:26597, HumanCyc Gene:HS14272, ModBase:Q6PF15, NCBI Gene:283212, RefSeq DNA:NT_167190, RefSeq Protein:NP_001034637, RefSeq RNA:NM_001039548, UniProtKB:Q6PF15 No chr11 75133438 75141674 75422394 75434550 +PA162393612 79786 HGNC:17844 ENSG00000135686 kelch like family member 36 KLHL36 kelch-like family member 36 C16orf44, FLJ12543 Yes No Ensembl:ENSG00000135686, GeneCard:KLHL36, HGNC:HGNC:17844, HumanCyc Gene:HS06049, ModBase:Q8N4N3, NCBI Gene:79786, RefSeq DNA:NT_010498, RefSeq Protein:NP_079007, RefSeq RNA:NM_024731, UniProtKB:Q8N4N3 No chr16 84682131 84701187 84648504 84667686 +PA162393613 340359 HGNC:34435 ENSG00000175946 kelch like family member 38 KLHL38 kelch-like family member 38 C8ORFK36 Yes No Ensembl:ENSG00000175946, GeneCard:KLHL38, HGNC:HGNC:34435, ModBase:Q2WGJ6, NCBI Gene:340359, RefSeq DNA:NT_008046, RefSeq Protein:NP_001075144, RefSeq RNA:NM_001081675, UniProtKB:Q2WGJ6 No chr8 124657743 124666041 123644442 123653829 +PA30145 56062 HGNC:6355 ENSG00000102271 kelch like family member 4 KLHL4 kelch-like family member 4 DKELCHL, KHL4, KIAA1687 Yes No Ensembl:ENSG00000102271, GenAtlas:KLHL4, GeneCard:KLHL4, HGNC:HGNC:6355, HumanCyc Gene:HS02377, ModBase:Q9C0H6, NCBI Gene:56062, OMIM:300348, RefSeq DNA:NG_012815, RefSeq DNA:NT_011651, RefSeq Protein:NP_061990, RefSeq Protein:NP_476503, RefSeq RNA:NM_019117, RefSeq RNA:NM_057162, UCSC Genome Browser:NM_019117, UniProtKB:A5PKX1, UniProtKB:Q9C0H6 No chrX 86772715 86925050 87517541 87670050 +PA134908127 131377 HGNC:30372 ENSG00000157119 kelch like family member 40 KLHL40 kelch-like family member 40, nemaline myopathy type 8, sarcosynapsin KBTBD5, NEM8, SRYP Yes No Ensembl:ENSG00000157119, GeneCard:KBTBD5, HGNC:HGNC:30372, HumanCyc Gene:HS08182, ModBase:Q2TBA0, NCBI Gene:131377, RefSeq DNA:NT_022517, RefSeq Protein:NP_689606, RefSeq RNA:NM_152393, UniProtKB:Q2TBA0 No chr3 42727011 42733938 42685519 42692446 +PA134950205 10324 HGNC:16905 ENSG00000239474 kelch like family member 41 KLHL41 kelch-like family member 41, sarcomeric muscle protein KBTBD10, Krp1, SARCOSIN Yes No Comparative Toxicogenomics Database:10324, Ensembl:ENSG00000239474, GeneCard:KBTBD10, HGNC:HGNC:16905, ModBase:O60662, NCBI Gene:10324, OMIM:607701, RefSeq DNA:NT_005403, RefSeq Protein:NP_006054, RefSeq RNA:NM_006063, UniProtKB:O60662 No chr2 170366212 170382772 169509702 169526262 +PA142671579 57542 HGNC:29252 ENSG00000087448 kelch like family member 42 KLHL42 kelch-like family member 42 Ctb9, KIAA1340, KLHDC5 Yes No Ensembl:ENSG00000087448, GeneCard:KLHDC5, HGNC:HGNC:29252, ModBase:Q9P2K6, NCBI Gene:57542, RefSeq DNA:NT_009714, RefSeq Protein:NP_065833, RefSeq RNA:NM_020782, UniProtKB:B2RNT7, UniProtKB:Q9P2K6 No chr12 27933187 27955973 27779957 27803040 +PA30146 51088 HGNC:6356 ENSG00000109790 kelch like family member 5 KLHL5 kelch-like family member 5 Yes No Comparative Toxicogenomics Database:51088, Ensembl:ENSG00000109790, GenAtlas:KLHL5, GeneCard:KLHL5, HGNC:HGNC:6356, HumanCyc Gene:HS03259, ModBase:Q96PQ7, NCBI Gene:51088, OMIM:608064, RefSeq DNA:NT_016297, RefSeq Protein:NP_001007076, RefSeq Protein:NP_001165125, RefSeq Protein:NP_057074, RefSeq Protein:NP_950240, RefSeq RNA:NM_001007075, RefSeq RNA:NM_001171654, RefSeq RNA:NM_015990, RefSeq RNA:NM_199039, UCSC Genome Browser:NM_015990, UniProtKB:Q59HD9, UniProtKB:Q6Y881, UniProtKB:Q7Z6D5, UniProtKB:Q96PQ7 No chr4 39046308 39127853 39044796 39143101 +PA38621 89857 HGNC:18653 ENSG00000172578 kelch like family member 6 KLHL6 kelch-like family member 6, kelch-like protein KLHL6 FLJ00029 Yes No Comparative Toxicogenomics Database:89857, Ensembl:ENSG00000172578, GenAtlas:KLHL6, GeneCard:KLHL6, HGNC:HGNC:18653, HumanCyc Gene:HS10540, ModBase:Q8WZ60, NCBI Gene:89857, RefSeq DNA:NT_005612, RefSeq Protein:NP_569713, RefSeq RNA:NM_130446, UCSC Genome Browser:NM_130446, UniProtKB:Q8WZ60 No chr3 183205319 183273499 183487531 183555712 +PA38392 55975 HGNC:15646 ENSG00000122550 kelch like family member 7 KLHL7 kelch-like family member 7, retinitis pigmentosa 42 KLHL6, RP42, SBBI26 Yes No Ensembl:ENSG00000122550, GenAtlas:KLHL7, GeneCard:KLHL7, HGNC:HGNC:15646, HumanCyc Gene:HS04577, ModBase:Q8IXQ5, NCBI Gene:55975, OMIM:611119, OMIM:612943, RefSeq DNA:NG_016983, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001026880, RefSeq Protein:NP_001165899, RefSeq Protein:NP_061334, RefSeq RNA:NM_001031710, RefSeq RNA:NM_001172428, RefSeq RNA:NM_018846, RefSeq RNA:NR_033328, RefSeq RNA:NR_033329, UniProtKB:A8K364, UniProtKB:B7Z5I9, UniProtKB:Q8IXQ5 No chr7 23145353 23215040 23105734 23175421 +PA38616 57563 HGNC:18644 ENSG00000145332 kelch like family member 8 KLHL8 kelch-like family member 8 KIAA1378 Yes No Comparative Toxicogenomics Database:57563, Ensembl:ENSG00000145332, GenAtlas:KLHL8, GeneCard:KLHL8, HGNC:HGNC:18644, HumanCyc Gene:HS07244, ModBase:Q9P2G9, NCBI Gene:57563, OMIM:611967, RefSeq DNA:NT_016354, RefSeq Protein:NP_065854, RefSeq RNA:NM_020803, UCSC Genome Browser:NM_020803, UniProtKB:Q49A95, UniProtKB:Q7Z330, UniProtKB:Q9P2G9 No chr4 88081260 88161466 87160103 87220608 +PA38662 55958 HGNC:18732 ENSG00000198642 kelch like family member 9 KLHL9 kelch-like family member 9 FLJ13568, KIAA1354 Yes No Ensembl:ENSG00000198642, GenAtlas:KLHL9, GeneCard:KLHL9, HGNC:HGNC:18732, ModBase:Q9P2J3, NCBI Gene:55958, OMIM:611201, RefSeq DNA:NT_008413, RefSeq Protein:NP_061335, RefSeq RNA:NM_018847, UniProtKB:Q58EZ4, UniProtKB:Q9P2J3 No chr9 21331018 21335429 21331019 21335430 +PA224 3816 HGNC:6357 ENSG00000167748 kallikrein 1 KLK1 Klk6 Yes No Comparative Toxicogenomics Database:3816, Ensembl:ENSG00000167748, GenAtlas:KLK1, GeneCard:KLK1, HGNC:HGNC:6357, HumanCyc Gene:HS09620, ModBase:P06870, NCBI Gene:3816, OMIM:147910, RefSeq DNA:NG_012094, RefSeq DNA:NT_011109, RefSeq Protein:NP_002248, RefSeq RNA:NM_002257, UCSC Genome Browser:NM_002257, UniProtKB:P06870 No chr19 51322402 51327043 50819146 50823787 +PA30147 5655 HGNC:6358 ENSG00000129451 kallikrein related peptidase 10 KLK10 kallikrein-related peptidase 10 NES1, PRSSL1 Yes No Comparative Toxicogenomics Database:5655, Ensembl:ENSG00000129451, GenAtlas:KLK10, GeneCard:KLK10, HGNC:HGNC:6358, HumanCyc Gene:HS05278, ModBase:O43240, NCBI Gene:5655, OMIM:602673, RefSeq DNA:NT_011109, RefSeq Protein:NP_001070968, RefSeq Protein:NP_002767, RefSeq Protein:NP_665895, RefSeq RNA:NM_001077500, RefSeq RNA:NM_002776, RefSeq RNA:NM_145888, UCSC Genome Browser:NM_002776, UniProtKB:O43240 No chr19 51516000 51523431 51012744 51020175 +PA30148 11012 HGNC:6359 ENSG00000167757 kallikrein related peptidase 11 KLK11 kallikrein-related peptidase 11 PRSS20, TLSP Yes No Comparative Toxicogenomics Database:11012, Ensembl:ENSG00000167757, GenAtlas:KLK11, GeneCard:KLK11, HGNC:HGNC:6359, HumanCyc Gene:HS09625, ModBase:Q9UBX7, NCBI Gene:11012, OMIM:604434, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129504, RefSeq Protein:NP_001161077, RefSeq Protein:NP_006844, RefSeq Protein:NP_659196, RefSeq RNA:NM_001136032, RefSeq RNA:NM_001167605, RefSeq RNA:NM_006853, RefSeq RNA:NM_144947, UCSC Genome Browser:NM_006853, UniProtKB:Q0WXX5, UniProtKB:Q8IXD7, UniProtKB:Q9UBX7 No chr19 51525487 51531290 51022231 51028034 +PA30149 43849 HGNC:6360 ENSG00000186474 kallikrein related peptidase 12 KLK12 kallikrein-related peptidase 12 KLK-L5 Yes No Ensembl:ENSG00000186474, GenAtlas:KLK12, GeneCard:KLK12, HGNC:HGNC:6360, HumanCyc Gene:HS09626, ModBase:Q9UKR0, NCBI Gene:43849, OMIM:605539, RefSeq DNA:NT_011109, RefSeq Protein:NP_062544, RefSeq Protein:NP_665901, RefSeq Protein:NP_665902, RefSeq RNA:NM_019598, RefSeq RNA:NM_145894, RefSeq RNA:NM_145895, UCSC Genome Browser:NM_019598, UniProtKB:Q9UKR0 No chr19 51532348 51538486 51028954 51035651 +PA30150 26085 HGNC:6361 ENSG00000167759 kallikrein related peptidase 13 KLK13 kallikrein-related peptidase 13 KLK-L4 Yes No Comparative Toxicogenomics Database:26085, Ensembl:ENSG00000167759, GenAtlas:KLK13, GeneCard:KLK13, HGNC:HGNC:6361, HumanCyc Gene:HS09627, ModBase:Q9UKR3, NCBI Gene:26085, OMIM:605505, RefSeq DNA:NT_011109, RefSeq Protein:NP_056411, RefSeq RNA:NM_015596, UCSC Genome Browser:NM_015596, UniProtKB:Q9UKR3 No chr19 51559021 51568367 51056206 51065110 +PA30151 43847 HGNC:6362 ENSG00000129437 kallikrein related peptidase 14 KLK14 kallikrein-related peptidase 14 KLK-L6 Yes No Ensembl:ENSG00000129437, GenAtlas:KLK14, GeneCard:KLK14, HGNC:HGNC:6362, HumanCyc Gene:HS05276, ModBase:Q9P0G3, NCBI Gene:43847, OMIM:606135, RefSeq DNA:NT_011109, RefSeq Protein:NP_071329, RefSeq RNA:NM_022046, UCSC Genome Browser:NM_022046, UniProtKB:Q9P0G3 No chr19 51581154 51587502 51077495 51084210 +PA134977502 55554 HGNC:20453 ENSG00000174562 kallikrein related peptidase 15 KLK15 kallikrein-related peptidase 15 ACO, HSRNASPH, prostinogen Yes No Ensembl:ENSG00000174562, GeneCard:KLK15, HGNC:HGNC:20453, HumanCyc Gene:HS10808, ModBase:Q9H2R5, NCBI Gene:55554, OMIM:610601, RefSeq DNA:NT_011109, RefSeq Protein:NP_059979, RefSeq Protein:NP_612630, RefSeq Protein:NP_612631, RefSeq RNA:NM_017509, RefSeq RNA:NM_138563, RefSeq RNA:NM_138564, UniProtKB:Q96RQ0, UniProtKB:Q9H2R5 No chr19 51328545 51334779 50825289 50834337 +PA30152 3817 HGNC:6363 ENSG00000167751 kallikrein related peptidase 2 KLK2 kallikrein-related peptidase 2 Yes No Comparative Toxicogenomics Database:3817, Ensembl:ENSG00000167751, GenAtlas:KLK2, GeneCard:KLK2, HGNC:HGNC:6363, HumanCyc Gene:HS09622, ModBase:P20151, NCBI Gene:3817, OMIM:147960, RefSeq DNA:NT_011109, RefSeq Protein:NP_001002231, RefSeq Protein:NP_005542, RefSeq RNA:NM_001002231, RefSeq RNA:NM_005551, UCSC Genome Browser:NM_005551, UniProtKB:P20151, UniProtKB:Q6T775 No chr19 51376689 51383823 50873433 50880567 +PA164741810 354 HGNC:6364 ENSG00000142515 kallikrein related peptidase 3 KLK3 kallikrein-related peptidase 3, prostate specific antigen APS, PSA Yes No Ensembl:ENSG00000142515, GeneCard:KLK3, HGNC:HGNC:6364, HumanCyc Gene:HS06931, ModBase:P07288, NCBI Gene:354, OMIM:176820, RefSeq DNA:NG_011653, RefSeq DNA:NT_011109, RefSeq Protein:NP_001025218, RefSeq Protein:NP_001025219, RefSeq Protein:NP_001025220, RefSeq Protein:NP_001025221, RefSeq Protein:NP_001639, RefSeq RNA:NM_001030047, RefSeq RNA:NM_001030048, RefSeq RNA:NM_001030049, RefSeq RNA:NM_001030050, RefSeq RNA:NM_001648, UniProtKB:C9JXH3, UniProtKB:P07288, UniProtKB:Q15096, UniProtKB:Q546G3 No chr19 51358171 51364020 50854915 50860764 +PA30154 9622 HGNC:6365 ENSG00000167749 kallikrein related peptidase 4 KLK4 enamel matrix serine proteinase 1, kallikrein-related peptidase 4 EMSP, EMSP1, KLK-L1, PRSS17, PSTS Yes No Comparative Toxicogenomics Database:9622, Ensembl:ENSG00000167749, GenAtlas:KLK4, GeneCard:KLK4, HGNC:HGNC:6365, HumanCyc Gene:HS09621, ModBase:Q9Y5K2, NCBI Gene:9622, OMIM:204700, OMIM:603767, RefSeq DNA:NG_012154, RefSeq DNA:NT_011109, RefSeq Protein:NP_004908, RefSeq RNA:NM_004917, UCSC Genome Browser:NM_004917, UniProtKB:Q9Y5K2 No chr19 51409608 51413994 50906352 50910745 +PA30155 25818 HGNC:6366 ENSG00000167754 kallikrein related peptidase 5 KLK5 kallikrein-related peptidase 5 KLK-L2, SCTE Yes No Comparative Toxicogenomics Database:25818, Ensembl:ENSG00000167754, GenAtlas:KLK5, GeneCard:KLK5, HGNC:HGNC:6366, HumanCyc Gene:HS09623, ModBase:Q9Y337, NCBI Gene:25818, OMIM:605643, RefSeq DNA:NT_011109, RefSeq Protein:NP_001070959, RefSeq Protein:NP_001070960, RefSeq Protein:NP_036559, RefSeq RNA:NM_001077491, RefSeq RNA:NM_001077492, RefSeq RNA:NM_012427, UCSC Genome Browser:NM_012427, UniProtKB:Q53ZR3, UniProtKB:Q9Y337 No chr19 51446559 51456344 50943299 50953088 +PA30156 5653 HGNC:6367 ENSG00000167755 kallikrein related peptidase 6 KLK6 kallikrein-related peptidase 6 Bssp, Klk7, PRSS18, PRSS9, neurosin Yes No Comparative Toxicogenomics Database:5653, Ensembl:ENSG00000167755, GenAtlas:KLK6, GeneCard:KLK6, HGNC:HGNC:6367, HumanCyc Gene:HS09624, ModBase:Q92876, NCBI Gene:5653, OMIM:602652, RefSeq DNA:NG_011825, RefSeq DNA:NT_011109, RefSeq Protein:NP_001012982, RefSeq Protein:NP_001012983, RefSeq Protein:NP_002765, RefSeq RNA:NM_001012964, RefSeq RNA:NM_001012965, RefSeq RNA:NM_002774, UCSC Genome Browser:NM_002774, UniProtKB:Q92876 No chr19 51461887 51472929 50958631 50969673 +PA30157 5650 HGNC:6368 ENSG00000169035 kallikrein related peptidase 7 KLK7 kallikrein-related peptidase 7 PRSS6, SCCE Yes No Comparative Toxicogenomics Database:5650, Ensembl:ENSG00000169035, GenAtlas:KLK7, GeneCard:KLK7, HGNC:HGNC:6368, HumanCyc Gene:HS09870, ModBase:P49862, NCBI Gene:5650, OMIM:604438, RefSeq DNA:NT_011109, RefSeq Protein:NP_001193982, RefSeq Protein:NP_005037, RefSeq Protein:NP_644806, RefSeq RNA:NM_001207053, RefSeq RNA:NM_005046, RefSeq RNA:NM_139277, UCSC Genome Browser:NM_005046, UniProtKB:A8K0U5, UniProtKB:P49862 No chr19 51479735 51487320 50976479 50984064 +PA30158 11202 HGNC:6369 ENSG00000129455 kallikrein related peptidase 8 KLK8 kallikrein-related peptidase 8 HNP, PRSS19, TADG14, neuropsin, ovasin Yes No Comparative Toxicogenomics Database:11202, Ensembl:ENSG00000129455, GenAtlas:KLK8, GeneCard:KLK8, HGNC:HGNC:6369, HumanCyc Gene:HS08491, ModBase:Q9UQ47, NCBI Gene:11202, OMIM:605644, RefSeq DNA:NT_011109, RefSeq Protein:NP_009127, RefSeq Protein:NP_653088, RefSeq Protein:NP_653089, RefSeq Protein:NP_653090, RefSeq RNA:NM_007196, RefSeq RNA:NM_144505, RefSeq RNA:NM_144506, RefSeq RNA:NM_144507, UCSC Genome Browser:NM_007196, UniProtKB:O60259 No chr19 51499264 51504958 50996008 51001702 +PA30159 284366 HGNC:6370 ENSG00000213022 kallikrein related peptidase 9 KLK9 kallikrein-related peptidase 9 KLK-L3 Yes No Comparative Toxicogenomics Database:284366, Ensembl:ENSG00000213022, GenAtlas:KLK9, GeneCard:KLK9, HGNC:HGNC:6370, HumanCyc Gene:HS05279, ModBase:Q9UKQ9, NCBI Gene:284366, OMIM:605504, RefSeq DNA:NT_011109, RefSeq Protein:NP_036447, RefSeq RNA:NM_012315, UCSC Genome Browser:NM_012315, UniProtKB:Q2XQG6, UniProtKB:Q9UKQ9 No chr19 51505769 51512890 51002513 51009634 +PA30160 3818 HGNC:6371 ENSG00000164344 kallikrein B1 KLKB1 """Fletcher factor"", ""kallikrein B, plasma (Fletcher factor) 1""" KLK3 Yes No Comparative Toxicogenomics Database:3818, Ensembl:ENSG00000164344, GenAtlas:KLKB1, GeneCard:KLKB1, HGNC:HGNC:6371, HumanCyc Gene:HS09067, ModBase:P03952, NCBI Gene:3818, OMIM:229000, OMIM:612423, RefSeq DNA:NG_012095, RefSeq DNA:NT_016354, RefSeq Protein:NP_000883, RefSeq RNA:NM_000892, UCSC Genome Browser:NM_000892, UniProtKB:P03952, UniProtKB:Q4W5C3 No chr4 187148502 187179625 186215714 186258477 +PA142671578 606293 HGNC:21260 ENSG00000197588 kallikrein pseudogene 1 KLKP1 kallikrein 31 pseudogene KLK31P, PsiKLK1, YKLK1 Yes No Comparative Toxicogenomics Database:606293, Ensembl:ENSG00000197588, GeneCard:KLKP1, HGNC:HGNC:21260, ModBase:Q107X0, NCBI Gene:606293, RefSeq DNA:NT_011109, RefSeq RNA:NR_002948 No chr19 51385352 51399654 50882096 50896398 +PA166049027 100144748 HGNC:37212 ENSG00000227268 killin, p53 regulated DNA replication inhibitor KLLN killin, p53-regulated DNA replication inhibitor killin Yes No Ensembl:ENSG00000227268, HGNC:HGNC:37212, NCBI Gene:100144748 No chr10 89618918 89623194 87859161 87863437 +PA30162 3820 HGNC:6373 ENSG00000111796 killer cell lectin like receptor B1 KLRB1 """killer cell lectin-like receptor subfamily B, member 1"", ""natural killer cell surface protein P1A""" CD161, CLEC5B, NKR, NKR-P1, NKR-P1A, hNKR-P1A Yes No Comparative Toxicogenomics Database:3820, Ensembl:ENSG00000111796, GenAtlas:KLRB1, GeneCard:KLRB1, HGNC:HGNC:6373, HumanCyc Gene:HS03467, ModBase:Q12918, NCBI Gene:3820, OMIM:602890, RefSeq DNA:NT_009714, RefSeq Protein:NP_002249, RefSeq RNA:NM_002258, UCSC Genome Browser:NM_002258, UniProtKB:Q12918 No chr12 9747870 9760497 9595274 9607901 +PA30163 3821 HGNC:6374 ENSG00000134545 killer cell lectin like receptor C1 KLRC1 """NKG2-1/B activating NK receptor"", ""killer cell lectin-like receptor subfamily C, member 1""" CD159a, NKG2, NKG2-A, NKG2-B Yes Yes Comparative Toxicogenomics Database:3821, Ensembl:ENSG00000134545, GenAtlas:KLRC1, GeneCard:KLRC1, HGNC:HGNC:6374, HumanCyc Gene:HS05884, ModBase:P26715, NCBI Gene:3821, OMIM:161555, RefSeq DNA:NT_009714, RefSeq Protein:NP_002250, RefSeq Protein:NP_015567, RefSeq Protein:NP_998822, RefSeq Protein:NP_998823, RefSeq RNA:NM_002259, RefSeq RNA:NM_007328, RefSeq RNA:NM_213657, RefSeq RNA:NM_213658, UCSC Genome Browser:NM_002259, UniProtKB:P26715 No chr12 10594863 10607215 10442264 10454685 +PA30164 3822 HGNC:6375 ENSG00000205809 killer cell lectin like receptor C2 KLRC2 """NKG2-C type II integral membrane protein"", ""killer cell lectin-like receptor subfamily C, member 2"", ""natural killer cell receptor G2-C""" CD159c, NKG2-C, NKG2C Yes No Comparative Toxicogenomics Database:3822, Ensembl:ENSG00000205809, GenAtlas:KLRC2, GeneCard:KLRC2, HGNC:HGNC:6375, ModBase:P26717, NCBI Gene:3822, OMIM:602891, RefSeq DNA:NT_009714, RefSeq Protein:NP_002251, RefSeq RNA:NM_002260, UCSC Genome Browser:NM_002260, UniProtKB:P26717 No chr12 10583198 10588780 10430599 10435993 +PA30165 3823 HGNC:6376 ENSG00000205810 killer cell lectin like receptor C3 KLRC3 killer cell lectin-like receptor subfamily C, member 3 NKG2-E Yes No Comparative Toxicogenomics Database:3823, Ensembl:ENSG00000205810, GenAtlas:KLRC3, GeneCard:KLRC3, HGNC:HGNC:6376, ModBase:Q07444, NCBI Gene:3823, OMIM:602892, RefSeq DNA:NT_009714, RefSeq Protein:NP_002252, RefSeq Protein:NP_031359, RefSeq RNA:NM_002261, RefSeq RNA:NM_007333, UCSC Genome Browser:NM_002261, UniProtKB:Q07444 No chr12 10564914 10573194 10412315 10420595 +PA30166 8302 HGNC:6377 ENSG00000183542 killer cell lectin like receptor C4 KLRC4 killer cell lectin-like receptor subfamily C, member 4 NKG2-F Yes Yes Comparative Toxicogenomics Database:8302, Ensembl:ENSG00000183542, GenAtlas:KLRC4, GeneCard:KLRC4, HGNC:HGNC:6377, HumanCyc Gene:HS04488, ModBase:O43908, NCBI Gene:8302, OMIM:602893, RefSeq DNA:NT_009714, RefSeq Protein:NP_038459, RefSeq RNA:NM_013431, UCSC Genome Browser:NM_013431, UniProtKB:O43908 No chr12 10541529 10562370 10407384 10409757 +PA30167 3824 HGNC:6378 ENSG00000134539 killer cell lectin like receptor D1 KLRD1 killer cell lectin-like receptor subfamily D, member 1 CD94 Yes Yes Ensembl:ENSG00000134539, GenAtlas:KLRD1, GeneCard:KLRD1, HGNC:HGNC:6378, HumanCyc Gene:HS05883, ModBase:Q13241, NCBI Gene:3824, OMIM:602894, RefSeq DNA:NT_009714, RefSeq Protein:NP_001107868, RefSeq Protein:NP_002253, RefSeq Protein:NP_031360, RefSeq RNA:NM_001114396, RefSeq RNA:NM_002262, RefSeq RNA:NM_007334, UCSC Genome Browser:NM_002262, UniProtKB:Q13241, UniProtKB:Q53ZY6 No chr12 10457050 10469850 10238385 10329607 +PA30169 51348 HGNC:13342 ENSG00000150045 killer cell lectin like receptor F1 KLRF1 killer cell lectin-like receptor subfamily F, member 1 CLEC5C, NKp80 Yes No Comparative Toxicogenomics Database:51348, Ensembl:ENSG00000150045, GenAtlas:KLRF1, GeneCard:KLRF1, HGNC:HGNC:13342, HumanCyc Gene:HS07654, ModBase:Q9NZS2, NCBI Gene:51348, OMIM:605029, RefSeq DNA:NT_009714, RefSeq Protein:NP_057607, RefSeq RNA:NM_016523, UCSC Genome Browser:NM_016523, UniProtKB:Q9NZS2 No chr12 9980038 9997604 9827303 9845005 +PA165512949 100431172 HGNC:37646 ENSG00000256797 killer cell lectin like receptor F2 KLRF2 killer cell lectin-like receptor subfamily F, member 2 NKp65 Yes No Ensembl:ENSG00000256797, HGNC:HGNC:37646, NCBI Gene:100431172, RefSeq Protein:NP_001177694, RefSeq RNA:NM_001190765 No chr12 10034088 10048432 9881489 9895833 +PA30170 10219 HGNC:6380 ENSG00000139187 killer cell lectin like receptor G1 KLRG1 """C-type lectin domain family 15, member A"", ""killer cell lectin-like receptor subfamily G, member 1"", ""mast cell function-associated antigen""" 2F1, CLEC15A, MAFA, MAFA-L Yes No Comparative Toxicogenomics Database:10219, Ensembl:ENSG00000139187, GenAtlas:KLRG1, GeneCard:KLRG1, HGNC:HGNC:6380, HumanCyc Gene:HS06591, ModBase:Q96E93, NCBI Gene:10219, OMIM:604874, RefSeq DNA:NT_009714, RefSeq Protein:NP_005801, RefSeq RNA:NM_005810, UCSC Genome Browser:NM_005810, UniProtKB:Q96E93 No chr12 9142137 9163343 8989079 9255692 +PA162393624 346689 HGNC:24778 ENSG00000188883 killer cell lectin like receptor G2 KLRG2 """C-type lectin domain family 15, member B"", ""killer cell lectin-like receptor subfamily G, member 2""" CLEC15B, FLJ44186 Yes No Ensembl:ENSG00000188883, GeneCard:KLRG2, HGNC:HGNC:24778, NCBI Gene:346689, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_940910, RefSeq RNA:NM_198508, UniProtKB:A4D1S0 No chr7 139138088 139168457 139426931 139483716 +PA128394594 22914 HGNC:18788 ENSG00000213809 killer cell lectin like receptor K1 KLRK1 killer cell lectin-like receptor subfamily K, member 1 CD314, D12S2489E, KLR, NKG2-D, NKG2D Yes Yes Comparative Toxicogenomics Database:22914, Ensembl:ENSG00000213809, GeneCard:KLRK1, HGNC:HGNC:18788, ModBase:P26718, NCBI Gene:22914, OMIM:611817, RefSeq DNA:NT_009714, RefSeq Protein:NP_031386, RefSeq RNA:NM_007360, UCSC Genome Browser:NM_007360, UniProtKB:P26718 No chr12 10524952 10542653 10372353 10390054 +PA30172 8564 HGNC:6381 ENSG00000117009 kynurenine 3-monooxygenase KMO kynurenine 3-hydroxylase, kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) Yes No Comparative Toxicogenomics Database:8564, Ensembl:ENSG00000117009, GenAtlas:KMO, GeneCard:KMO, HGNC:HGNC:6381, HumanCyc Gene:HS04082, ModBase:O15229, NCBI Gene:8564, OMIM:603538, RefSeq DNA:NT_167186, RefSeq Protein:NP_003670, RefSeq RNA:NM_003679, UCSC Genome Browser:NM_003679, UniProtKB:O15229 No chr1 241695324 241758949 241531883 241595647 +PA241 4297 HGNC:7132 ENSG00000118058 lysine methyltransferase 2A KMT2A """Histone-lysine N-methyltransferase 2A"", ""lysine (K)-specific methyltransferase 2A"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)""" ALL-1, ALL1, CXXC7, HRX, HTRX, HTRX1, KMT2A, MLL, MLL1, MLL1A, TRX1 Yes No Comparative Toxicogenomics Database:4297, Ensembl:ENSG00000118058, GenAtlas:MLL, GeneCard:MLL, HGNC:HGNC:7132, HumanCyc Gene:HS04188, ModBase:Q03164, NCBI Gene:4297, OMIM:159555, RefSeq DNA:NT_033899, RefSeq Protein:NP_001184033, RefSeq Protein:NP_005924, RefSeq RNA:NM_001197104, RefSeq RNA:NM_005933, UCSC Genome Browser:NM_005933, UniProtKB:Q03164 No chr11 118307205 118397539 118436490 118526832 +PA166123699 9757 HGNC:15840 ENSG00000272333 lysine methyltransferase 2B KMT2B """Histone-lysine N-methyltransferase 2B"", ""lysine (K)-specific methyltransferase 2B"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4""" CXXC10, HRX2, KIAA0304, MLL1B, MLL2, MLL4, TRX2, WBP7 Yes No Ensembl:ENSG00000272333, HGNC:HGNC:15840, NCBI Gene:9757 No chr19 +PA30847 58508 HGNC:13726 ENSG00000055609 lysine methyltransferase 2C KMT2C Histone-lysine N-methyltransferase 2C, lysine (K)-specific methyltransferase 2C, myeloid/lymphoid or mixed-lineage leukemia 3 HALR, KIAA1506, KMT2C, MLL3 Yes No Comparative Toxicogenomics Database:58508, Ensembl:ENSG00000055609, GenAtlas:MLL3, GeneCard:MLL3, HGNC:HGNC:13726, HumanCyc Gene:HS00685, ModBase:Q8NEZ4, NCBI Gene:58508, OMIM:606833, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_733751, RefSeq RNA:NM_170606, UCSC Genome Browser:NM_021230, UniProtKB:Q8NEZ4 No chr7 151832010 152133090 152134925 152436642 +PA30846 8085 HGNC:7133 ENSG00000167548 lysine methyltransferase 2D KMT2D ALL1-related, histone-lysine N-methyltransferase 2D, lysine (K)-specific methyltransferase 2D, myeloid/lymphoid or mixed-lineage leukemia 2 ALR, CAGL114, KMT2D, MLL2, MLL4, TNRC21 Yes No Comparative Toxicogenomics Database:3826, Comparative Toxicogenomics Database:8085, Ensembl:ENSG00000167548, GenAtlas:KMS, GenAtlas:MLL2, GeneCard:KMS, GeneCard:MLL2, HGNC:HGNC:7133, HumanCyc Gene:HS09574, ModBase:O14686, NCBI Gene:8085, OMIM:147920, OMIM:602113, RefSeq DNA:NT_029419, RefSeq Protein:NP_003473, RefSeq RNA:NM_003482, UCSC Genome Browser:NM_003482, UniProtKB:O14686, UniProtKB:Q59FG6, UniProtKB:Q6PIA1 No chr12 49412758 49453935 49018975 49060884 +PA38568 55904 HGNC:18541 ENSG00000005483 lysine methyltransferase 2E (inactive) KMT2E """lysine (K)-specific methyltransferase 2E"", ""lysine methyltransferase 2E"", ""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)""" HDCMC04P, KMT2E, MLL5, SETD5B Yes Yes Ensembl:ENSG00000005483, GenAtlas:MLL5, GeneCard:MLL5, HGNC:HGNC:18541, HumanCyc Gene:HS00145, ModBase:Q8IV78, NCBI Gene:55904, OMIM:608444, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_061152, RefSeq Protein:NP_891847, RefSeq RNA:NM_018682, RefSeq RNA:NM_182931, UCSC Genome Browser:NM_018682, UniProtKB:Q8IZD2 No chr7 104654637 104754532 105014190 105114085 +PA143485616 387893 HGNC:29489 ENSG00000183955 lysine methyltransferase 5A KMT5A SET domain containing (lysine methyltransferase) 8 KMT5A, PR-Set7, SET07, SET8, SETD8 Yes No Comparative Toxicogenomics Database:387893, Ensembl:ENSG00000183955, GeneCard:SETD8, HGNC:HGNC:29489, ModBase:Q9NQR1, NCBI Gene:387893, OMIM:607240, RefSeq DNA:NT_009755, RefSeq Protein:NP_065115, RefSeq RNA:NM_020382, UniProtKB:Q9NQR1 No chr12 123868704 123893900 123383778 123409357 +PA134958369 51111 HGNC:24283 ENSG00000110066 lysine methyltransferase 5B KMT5B Histone-lysine N-methyltransferase, suppressor of variegation 4-20 homolog 1 (Drosophila) CGI-85, KMT5B, SUV420H1 Yes No Ensembl:ENSG00000110066, GeneCard:SUV420H1, HGNC:HGNC:24283, HumanCyc Gene:HS12712, NCBI Gene:51111, OMIM:610881, RefSeq DNA:NT_167190, RefSeq Protein:NP_057112, RefSeq Protein:NP_060105, RefSeq RNA:NM_016028, RefSeq RNA:NM_017635, UniProtKB:Q4FZB7 No chr11 67922330 67981250 68154863 68213904 +PA134934307 84787 HGNC:28405 ENSG00000133247 lysine methyltransferase 5C KMT5C suppressor of variegation 4-20 homolog 2 (Drosophila) KMT5C, MGC2705, SUV420H2 Yes No Ensembl:ENSG00000133247, GeneCard:SUV420H2, HGNC:HGNC:28405, HumanCyc Gene:HS13469, ModBase:Q86Y97, NCBI Gene:84787, OMIM:613198, RefSeq DNA:NT_011109, RefSeq Protein:NP_116090, RefSeq RNA:NM_032701, UniProtKB:Q86Y97 No chr19 55851221 55859489 55339362 55348121 +PA162393639 148930 HGNC:26488 ENSG00000162456 kinocilin KNCN FLJ32011, KINO, L5 Yes No Ensembl:ENSG00000162456, GeneCard:KNCN, HGNC:HGNC:26488, NCBI Gene:148930, OMIM:611455, RefSeq DNA:NT_032977, RefSeq Protein:NP_001091080, RefSeq RNA:NM_001097611 No chr1 47011316 47016887 46545638 46551657 +PA134983621 85442 HGNC:29374 ENSG00000171798 kinase non-catalytic C-lobe domain containing 1 KNDC1 kinase non-catalytic C-lobe domain (KIND) containing 1 C10orf23, FLJ25027, KIAA1768, RASGEF2, Very-KIND, bB439H18.3, v-KIND Yes No Comparative Toxicogenomics Database:85442, Ensembl:ENSG00000171798, GeneCard:KNDC1, HGNC:HGNC:29374, ModBase:Q76NI1, NCBI Gene:85442, RefSeq DNA:NT_008818, RefSeq Protein:NP_689856, RefSeq RNA:NM_152643, UniProtKB:Q5U5J6, UniProtKB:Q76NI1 No chr10 134973971 135039916 133160096 133226412 +PA225 3827 HGNC:6383 ENSG00000113889 kininogen 1 KNG1 alpha-2-thiol proteinase inhibitor, bradykinin, high-molecular-weight kininogen BDK, BK, HK, HMWK, KNG Yes Yes Comparative Toxicogenomics Database:3827, Ensembl:ENSG00000113889, GenAtlas:KNG1, GeneCard:KNG1, HGNC:HGNC:6383, HumanCyc Gene:HS03725, ModBase:P01042, NCBI Gene:3827, OMIM:228960, OMIM:612358, RefSeq DNA:NG_016009, RefSeq DNA:NT_005612, RefSeq Protein:NP_000884, RefSeq Protein:NP_001095886, RefSeq Protein:NP_001159923, RefSeq RNA:NM_000893, RefSeq RNA:NM_001102416, RefSeq RNA:NM_001166451, UCSC Genome Browser:NM_000893, UniProtKB:C9JEX1, UniProtKB:P01042 No chr3 186435098 186462199 186717309 186744410 +PA142672201 57082 HGNC:24054 ENSG00000137812 kinetochore scaffold 1 KNL1 """blinkin, bub-linking kinetochore protein"", ""cancer susceptibility candidate 5"", ""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""protein phosphatase 1, regulatory subunit 55""" AF15Q14, CASC5, CT29, D40, KIAA1570, KNL1, MCPH4, PPP1R55, Spc7, hKNL-1, hSpc105 Yes No Ensembl:ENSG00000137812, GeneCard:CASC5, HGNC:HGNC:24054, HumanCyc Gene:HS13694, NCBI Gene:57082, OMIM:609173, RefSeq DNA:NT_010194, RefSeq Protein:NP_653091, RefSeq Protein:NP_733468, RefSeq RNA:NM_144508, RefSeq RNA:NM_170589, UniProtKB:Q8NG31 No chr15 40886447 40954881 40594012 40664342 +PA162378471 400506 HGNC:34404 ENSG00000103550 lysine rich nucleolar protein 1 KNOP1 """family with sequence similarity 191, member A"", ""lysine-rich nucleolar protein 1"", ""testis-specific gene 118""" 101F10.1, C16orf88, FAM191A, TSG118 Yes No Ensembl:ENSG00000103550, GeneCard:C16orf88, HGNC:HGNC:34404, ModBase:Q1ED39, NCBI Gene:400506, RefSeq DNA:NT_010393, RefSeq Protein:NP_001013009, RefSeq RNA:NM_001012991, UniProtKB:Q1ED39 No chr16 19717673 19729726 19706347 19718240 +PA134895025 90417 HGNC:30767 ENSG00000128944 kinetochore localized astrin (SPAG5) binding protein KNSTRN TRAF4 associated factor 1, kinetochore-localized astrin-binding protein, kinetochore-localized astrin/SPAG5 binding protein, small kinetochore-associated protein C15orf23, FLJ14502, SKAP, TRAF4AF1, kinastrin Yes No Ensembl:ENSG00000128944, GeneCard:C15orf23, HGNC:HGNC:30767, ModBase:Q9Y448, NCBI Gene:90417, RefSeq DNA:NT_010194, RefSeq Protein:NP_001136233, RefSeq Protein:NP_001136234, RefSeq Protein:NP_150628, RefSeq RNA:NM_001142761, RefSeq RNA:NM_001142762, RefSeq RNA:NM_033286, UniProtKB:C9J424, UniProtKB:Q9Y448 No chr15 40674922 40686489 40382721 40394288 +PA30184 9735 HGNC:17255 ENSG00000184445 kinetochore associated 1 KNTC1 rough deal homolog (Drosophila) KIAA0166, ROD Yes No Comparative Toxicogenomics Database:9735, Ensembl:ENSG00000184445, GenAtlas:KNTC1, GeneCard:KNTC1, HGNC:HGNC:17255, ModBase:P50748, NCBI Gene:9735, OMIM:607363, RefSeq DNA:NT_009755, RefSeq Protein:NP_055523, RefSeq RNA:NM_014708, UCSC Genome Browser:NM_014708, UniProtKB:P50748 No chr12 123011796 123110947 122527114 122626409 +PA142672518 100129271 HGNC:29468 ENSG00000198854 KPRP N-terminal and LCE C-terminal like protein KPLCE chromosome 1 open reading frame 68, skin-specific protein 32 C1orf68, LEP7, XP32 Yes No Ensembl:ENSG00000198854, GeneCard:C1orf68, HGNC:HGNC:29468, ModBase:Q5T750, NCBI Gene:100129271, RefSeq DNA:NT_004487, RefSeq Protein:NP_001019850, RefSeq RNA:NM_001024679, UniProtKB:Q5T750 No chr1 152691998 152692905 152719522 152720429 +PA30185 3836 HGNC:6394 ENSG00000114030 karyopherin subunit alpha 1 KPNA1 importin alpha 5, karyopherin alpha 1 (importin alpha 5) IPOA5, NPI-1, RCH2, SRP1 Yes No Ensembl:ENSG00000114030, GenAtlas:KPNA1, GeneCard:KPNA1, HGNC:HGNC:6394, HumanCyc Gene:HS03735, ModBase:P52294, NCBI Gene:3836, OMIM:600686, RefSeq DNA:NT_005612, RefSeq Protein:NP_002255, RefSeq RNA:NM_002264, RefSeq RNA:NR_026698, UCSC Genome Browser:NM_002264, UniProtKB:P52294 No chr3 122140748 122233786 122421901 122514939 +PA30186 3838 HGNC:6395 ENSG00000182481 karyopherin subunit alpha 2 KPNA2 """RAG cohort 1"", ""importin alpha 1"", ""karyopherin alpha 2 (RAG cohort 1, importin alpha 1)"", ""nuclear pore-targeting complex 58kD component""" IPOA1, PTAC58, QIP2, RCH1, SRP1alpha Yes No Comparative Toxicogenomics Database:3838, Ensembl:ENSG00000182481, GenAtlas:KPNA2, GeneCard:KPNA2, HGNC:HGNC:6395, ModBase:P52292, NCBI Gene:3838, OMIM:600685, RefSeq DNA:NT_010783, RefSeq Protein:NP_002257, RefSeq RNA:NM_002266, UCSC Genome Browser:NM_002266, UniProtKB:P52292, UniProtKB:Q7Z726 No chr17 66031848 66042970 68035602 68046859 +PA30187 3839 HGNC:6396 ENSG00000102753 karyopherin subunit alpha 3 KPNA3 importin alpha 4, importin subunit alpha-4, karyopherin alpha 3 (importin alpha 4) IPOA4, SRP1gamma, SRP4, hSRP1 Yes No Comparative Toxicogenomics Database:3839, Ensembl:ENSG00000102753, GenAtlas:KPNA3, GeneCard:KPNA3, HGNC:HGNC:6396, HumanCyc Gene:HS02407, ModBase:O00505, NCBI Gene:3839, OMIM:601892, RefSeq DNA:NT_024524, RefSeq Protein:NP_002258, RefSeq RNA:NM_002267, UCSC Genome Browser:NM_002267, UniProtKB:O00505, UniProtKB:Q5JVM9, UniProtKB:Q8IYQ9 No chr13 50273443 50367057 49699307 49792921 +PA30188 3840 HGNC:6397 ENSG00000186432 karyopherin subunit alpha 4 KPNA4 importin alpha 3, karyopherin alpha 4 (importin alpha 3) IPOA3, MGC12217, MGC26703, QIP1, SRP3 Yes No Comparative Toxicogenomics Database:3840, Ensembl:ENSG00000186432, GenAtlas:KPNA4, GeneCard:KPNA4, HGNC:HGNC:6397, HumanCyc Gene:HS07221, ModBase:O00629, NCBI Gene:3840, OMIM:602970, RefSeq DNA:NT_005612, RefSeq Protein:NP_002259, RefSeq RNA:NM_002268, UCSC Genome Browser:NM_002268, UniProtKB:O00629 No chr3 160212783 160283376 160494995 160565588 +PA30189 3841 HGNC:6398 ENSG00000196911 karyopherin subunit alpha 5 KPNA5 importin alpha 6, karyopherin alpha 5 (importin alpha 6) IPOA6, SRP6 Yes No Ensembl:ENSG00000196911, GenAtlas:KPNA5, GeneCard:KPNA5, HGNC:HGNC:6398, ModBase:O15131, NCBI Gene:3841, OMIM:604545, RefSeq DNA:NT_025741, RefSeq Protein:NP_002260, RefSeq RNA:NM_002269, UCSC Genome Browser:NM_002269, UniProtKB:O15131 No chr6 117002367 117063030 116681086 116741867 +PA30190 23633 HGNC:6399 ENSG00000025800 karyopherin subunit alpha 6 KPNA6 importin alpha 7, karyopherin alpha 6 (importin alpha 7) FLJ11249, IPOA7, KPNA7, MGC17918 Yes No Ensembl:ENSG00000025800, GenAtlas:KPNA6, GeneCard:KPNA6, HGNC:HGNC:6399, HumanCyc Gene:HS00445, ModBase:O60684, NCBI Gene:23633, OMIM:610563, RefSeq DNA:NT_032977, RefSeq Protein:NP_036448, RefSeq RNA:NM_012316, UCSC Genome Browser:NM_012316, UniProtKB:O60684 No chr1 32573644 32642169 32108043 32176568 +PA164722048 402569 HGNC:21839 ENSG00000185467 karyopherin subunit alpha 7 KPNA7 importin alpha 8, karyopherin alpha 7 (importin alpha 8) IPOA8 Yes No Ensembl:ENSG00000185467, GeneCard:KPNA7, HGNC:HGNC:21839, NCBI Gene:402569, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001139187, RefSeq RNA:NM_001145715, UniProtKB:A9QM74 No chr7 98771197 98805089 99145467 99219417 +PA30191 3837 HGNC:6400 ENSG00000108424 karyopherin subunit beta 1 KPNB1 importin 1, karyopherin (importin) beta 1 IMB1, IPO1, IPOB, Impnb, MGC2155, MGC2156, MGC2157, NTF97 Yes No Comparative Toxicogenomics Database:3837, Ensembl:ENSG00000108424, GenAtlas:KPNB1, GeneCard:KPNB1, HGNC:HGNC:6400, HumanCyc Gene:HS03103, ModBase:Q14974, NCBI Gene:3837, OMIM:602738, RefSeq DNA:NT_010783, RefSeq Protein:NP_002256, RefSeq RNA:NM_002265, UCSC Genome Browser:NM_002265, UniProtKB:Q14974 No chr17 45726861 45762037 47649838 47683638 +PA162393640 448834 HGNC:31823 ENSG00000203786 keratinocyte proline rich protein KPRP keratinocyte proline-rich protein C1orf45 Yes No Ensembl:ENSG00000203786, GeneCard:KPRP, HGNC:HGNC:31823, ModBase:Q5T749, NCBI Gene:448834, OMIM:613260, RefSeq DNA:NT_004487, RefSeq Protein:NP_001020402, RefSeq RNA:NM_001025231, UniProtKB:Q5T749 No chr1 152730506 152734529 152758030 152762053 +PA30194 11133 HGNC:6404 ENSG00000118162 kaptin, actin binding protein KPTN kaptin (actin binding protein) 2E4, KICS4 Yes No Comparative Toxicogenomics Database:11133, Ensembl:ENSG00000118162, GenAtlas:KPTN, GeneCard:KPTN, HGNC:HGNC:6404, HumanCyc Gene:HS04195, ModBase:Q9Y664, NCBI Gene:11133, RefSeq DNA:NT_011109, RefSeq Protein:NP_008990, RefSeq RNA:NM_007059, UCSC Genome Browser:NM_007059, UniProtKB:Q9Y664 No chr19 47978398 47987521 47475141 47486792 +PA30196 3845 HGNC:6407 ENSG00000133703 KRAS proto-oncogene, GTPase KRAS Kirsten rat sarcoma viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog K-Ras4B, KRAS1, KRAS2 Yes Yes Comparative Toxicogenomics Database:3845, Ensembl:ENSG00000133703, GenAtlas:KRAS, GeneCard:KRAS, HGNC:HGNC:6407, HumanCyc Gene:HS05779, ModBase:P01116, NCBI Gene:3845, OMIM:109800, OMIM:114480, OMIM:115150, OMIM:137215, OMIM:190070, OMIM:211980, OMIM:218040, OMIM:260350, OMIM:609942, RefSeq DNA:NG_007524, RefSeq DNA:NT_009714, RefSeq Protein:NP_004976, RefSeq Protein:NP_203524, RefSeq RNA:NM_004985, RefSeq RNA:NM_033360, UCSC Genome Browser:NM_004985, UniProtKB:P01116 No chr12 25358180 25403870 25204789 25252093 +PA30195 3844 HGNC:6406 ENSG00000220635 v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog pseudogene 1 KRASP1 Yes No Ensembl:ENSG00000220635, GenAtlas:KRAS1P, GeneCard:KRASP1, HGNC:HGNC:6406, NCBI Gene:3844, RefSeq DNA:NG_001154, RefSeq DNA:NT_007592 No chr6 54635272 54640504 54770474 54775731 +PA162393641 84626 HGNC:22228 ENSG00000133619 KRAB-A domain containing 1 KRBA1 KIAA1862 Yes No Ensembl:ENSG00000133619, GeneCard:KRBA1, HGNC:HGNC:22228, NCBI Gene:84626, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_115923, RefSeq RNA:NM_032534, UniProtKB:A5PL33 No chr7 149412061 149431664 149714945 149734575 +PA162393680 124751 HGNC:26989 ENSG00000184619 KRAB-A domain containing 2 KRBA2 Yes No Ensembl:ENSG00000184619, GeneCard:KRBA2, HGNC:HGNC:26989, ModBase:Q6ZNG9, NCBI Gene:124751, RefSeq DNA:NT_010718, RefSeq Protein:NP_998762, RefSeq RNA:NM_213597, UniProtKB:Q6ZNG9 No chr17 8271973 8280027 8368047 8376902 +PA165697464 100506243 HGNC:38708 ENSG00000240747 KRAB box domain containing 1 KRBOX1 C3orf41 Yes No Ensembl:ENSG00000240747, HGNC:HGNC:38708, NCBI Gene:100506243 No chr3 42977834 42984284 42936342 42942792 +PA142670474 55634 HGNC:26007 ENSG00000147121 KRAB box domain containing 4 KRBOX4 hypothetical protein FLJ20344 FLJ20344, ZNF673 Yes No Ensembl:ENSG00000147121, GeneCard:ZNF673, HGNC:HGNC:26007, HumanCyc Gene:HS07395, ModBase:Q5JUW0, NCBI Gene:55634, OMIM:300585, RefSeq DNA:NG_022935, RefSeq DNA:NT_079573, RefSeq Protein:NP_001123370, RefSeq Protein:NP_001123371, RefSeq Protein:NP_001123372, RefSeq Protein:NP_060246, RefSeq RNA:NM_001129898, RefSeq RNA:NM_001129899, RefSeq RNA:NM_001129900, RefSeq RNA:NM_017776, UniProtKB:Q5JUW0 No chrX 46306624 46334074 46447189 46474639 +PA166351932 124411 HGNC:26987 KRAB box domain containing 5 KRBOX5 ZNF720 Yes No HGNC:HGNC:26987, NCBI Gene:124411 No 0 0 0 0 +PA162393681 51315 HGNC:28039 ENSG00000172086 lysine rich coiled-coil 1 KRCC1 lysine-rich coiled-coil 1 FLJ22333 Yes No Ensembl:ENSG00000172086, GeneCard:KRCC1, HGNC:HGNC:28039, HumanCyc Gene:HS16054, ModBase:Q9NPI7, NCBI Gene:51315, RefSeq DNA:NT_022184, RefSeq Protein:NP_057702, RefSeq RNA:NM_016618, UniProtKB:Q9NPI7 No chr2 88326724 88355315 88027203 88055801 +PA38241 83999 HGNC:17550 ENSG00000183762 kringle containing transmembrane protein 1 KREMEN1 KREMEN, KRM1 Yes No Ensembl:ENSG00000183762, GeneCard:KREMEN1, HGNC:HGNC:17550, NCBI Gene:83999, OMIM:609898, RefSeq DNA:NT_011520, RefSeq Protein:NP_001034659, RefSeq Protein:NP_114434, RefSeq RNA:NM_001039570, RefSeq RNA:NM_032045, UCSC Genome Browser:NM_032045, UniProtKB:Q96MU8 No chr22 29469066 29564321 29073078 29168333 +PA38683 79412 HGNC:18797 ENSG00000131650 kringle containing transmembrane protein 2 KREMEN2 KRM2, MGC10791 Yes No Ensembl:ENSG00000131650, GenAtlas:KREMEN2, GeneCard:KREMEN2, HGNC:HGNC:18797, HumanCyc Gene:HS05547, ModBase:Q8NCW0, NCBI Gene:79412, OMIM:609899, RefSeq DNA:NT_010393, RefSeq Protein:NP_078783, RefSeq Protein:NP_757384, RefSeq RNA:NM_024507, RefSeq RNA:NM_172229, UCSC Genome Browser:NM_024507, UniProtKB:Q8NCW0 No chr16 3014217 3018384 2964216 2968383 +PA162393682 65095 HGNC:25769 ENSG00000129347 KRI1 homolog KRI1 KRI1 homolog (S. cerevisiae) FLJ12949 Yes No Ensembl:ENSG00000129347, GeneCard:KRI1, HGNC:HGNC:25769, HumanCyc Gene:HS13299, ModBase:Q8N9T8, NCBI Gene:65095, RefSeq DNA:NT_011295, RefSeq Protein:NP_075384, RefSeq RNA:NM_023008, UniProtKB:Q8N9T8 No chr19 10663761 10676702 10553085 10566031 +PA26144 889 HGNC:1573 ENSG00000001631 KRIT1 ankyrin repeat containing KRIT1 """KRIT1, ankyrin repeat containing"", ""Krev interaction trapped 1""" CAM, CCM1 Yes No Comparative Toxicogenomics Database:889, Ensembl:ENSG00000001631, GenAtlas:KRIT1, GeneCard:KRIT1, HGNC:HGNC:1573, HumanCyc Gene:HS00077, ModBase:O00522, NCBI Gene:889, OMIM:116860, OMIM:604214, RefSeq DNA:NG_012964, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001013424, RefSeq Protein:NP_004903, RefSeq Protein:NP_919436, RefSeq Protein:NP_919437, RefSeq Protein:NP_919438, RefSeq RNA:NM_001013406, RefSeq RNA:NM_004912, RefSeq RNA:NM_194454, RefSeq RNA:NM_194455, RefSeq RNA:NM_194456, UCSC Genome Browser:NM_004912, UniProtKB:A4D1F7, UniProtKB:A6NNU0, UniProtKB:O00522 No chr7 91828283 91875414 92198969 92246128 +PA29450 11103 HGNC:5176 ENSG00000111615 KRR1 small subunit processome component homolog KRR1 """KRR1, small subunit (SSU) processome component, homolog (yeast)"", ""KRR1, small subunit processome component homolog""" HRB2, RIP-1 Yes No Comparative Toxicogenomics Database:11103, Ensembl:ENSG00000111615, GenAtlas:KRR1, GeneCard:KRR1, HGNC:HGNC:5176, HumanCyc Gene:HS03430, ModBase:Q13601, NCBI Gene:11103, OMIM:612817, RefSeq DNA:NT_029419, RefSeq Protein:NP_008974, RefSeq RNA:NM_007043, UCSC Genome Browser:NM_007043, UniProtKB:A0JLP0, UniProtKB:Q13601 No chr12 75891419 75905418 75497639 75511638 +PA30199 3848 HGNC:6412 ENSG00000167768 keratin 1 KRT1 EHK1, KRT1A Yes No Comparative Toxicogenomics Database:3848, Ensembl:ENSG00000167768, GenAtlas:KRT1, GeneCard:KRT1, HGNC:HGNC:6412, HumanCyc Gene:HS09629, ModBase:P04264, NCBI Gene:3848, OMIM:113800, OMIM:139350, OMIM:144200, OMIM:146590, OMIM:148700, OMIM:600962, OMIM:607602, OMIM:607654, RefSeq DNA:NG_008364, RefSeq DNA:NT_029419, RefSeq Protein:NP_006112, RefSeq RNA:NM_006121, UCSC Genome Browser:NM_006121, UniProtKB:P04264 No chr12 53068520 53074191 52674736 52680407 +PA30200 3858 HGNC:6413 ENSG00000186395 keratin 10 KRT10 cytokeratin 10, epidermolytic hyperkeratosis CK10, K10, KPP Yes No Comparative Toxicogenomics Database:3858, Ensembl:ENSG00000186395, GenAtlas:KRT10, GeneCard:KRT10, HGNC:HGNC:6413, HumanCyc Gene:HS10304, NCBI Gene:3858, OMIM:113800, OMIM:148080, OMIM:600648, OMIM:607602, RefSeq DNA:NG_008405, RefSeq DNA:NT_010783, RefSeq Protein:NP_000412, RefSeq RNA:NM_000421, UCSC Genome Browser:NM_000421, UniProtKB:P13645 No chr17 38974369 38978863 40818117 40822621 +PA30201 3859 HGNC:6414 ENSG00000187242 keratin 12 KRT12 Meesmann corneal dystrophy K12 Yes No Comparative Toxicogenomics Database:3859, Ensembl:ENSG00000187242, GenAtlas:KRT12, GeneCard:KRT12, HGNC:HGNC:6414, HumanCyc Gene:HS03075, ModBase:Q99456, NCBI Gene:3859, OMIM:122100, OMIM:601687, RefSeq DNA:NG_008077, RefSeq DNA:NT_010783, RefSeq Protein:NP_000214, RefSeq RNA:NM_000223, UCSC Genome Browser:NM_000223, UniProtKB:Q99456 No chr17 39017430 39023462 40861178 40867210 +PA147357849 643865 HGNC:32970 ENSG00000257402 keratin 126 pseudogene KRT126P Yes No Ensembl:ENSG00000257402, GeneCard:KRT126P, HGNC:HGNC:32970, NCBI Gene:643865, RefSeq DNA:NG_005685, RefSeq DNA:NT_029419 No chr12 53107922 53115587 52714138 52721803 +PA30202 3860 HGNC:6415 ENSG00000171401 keratin 13 KRT13 """cytokeratin 13"", ""keratin, type I cytoskeletal 13""" CK13, K13, MGC161462, MGC3781 Yes No Comparative Toxicogenomics Database:3860, Ensembl:ENSG00000171401, GenAtlas:KRT13, GeneCard:KRT13, HGNC:HGNC:6415, ModBase:P13646, NCBI Gene:3860, OMIM:148065, OMIM:193900, RefSeq DNA:NG_008406, RefSeq DNA:NT_010783, RefSeq Protein:NP_002265, RefSeq Protein:NP_705694, RefSeq RNA:NM_002274, RefSeq RNA:NM_153490, UCSC Genome Browser:NM_002274, UniProtKB:A1A4E9, UniProtKB:P13646 No chr17 39657233 39661865 41500981 41505613 +PA30203 3861 HGNC:6416 ENSG00000186847 keratin 14 KRT14 epidermolysis bullosa simplex, Dowling-Meara, Koebner EBS3, EBS4 Yes No Comparative Toxicogenomics Database:3861, Ensembl:ENSG00000186847, GenAtlas:KRT14, GeneCard:KRT14, HGNC:HGNC:6416, HumanCyc Gene:HS10297, ModBase:P02533, NCBI Gene:3861, OMIM:125595, OMIM:131760, OMIM:131800, OMIM:131900, OMIM:148066, OMIM:161000, OMIM:601001, RefSeq DNA:NG_008624, RefSeq DNA:NT_010783, RefSeq Protein:NP_000517, RefSeq RNA:NM_000526, UCSC Genome Browser:NM_000526, UniProtKB:P02533 No chr17 39738531 39743147 41582279 41586895 +PA30208 3866 HGNC:6421 ENSG00000171346 keratin 15 KRT15 """cytokeratin 15"", ""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15""" CK15, K15, K1CO Yes No Comparative Toxicogenomics Database:3866, Ensembl:ENSG00000171346, GenAtlas:KRT15, GeneCard:KRT15, HGNC:HGNC:6421, HumanCyc Gene:HS10292, ModBase:P19012, NCBI Gene:3866, OMIM:148030, RefSeq DNA:NG_012284, RefSeq DNA:NT_010783, RefSeq Protein:NP_002266, RefSeq RNA:NM_002275, UCSC Genome Browser:NM_002275, UniProtKB:B3KVF5, UniProtKB:P19012 No chr17 39669997 39678033 41513745 41522413 +PA30210 3868 HGNC:6423 ENSG00000186832 keratin 16 KRT16 focal non-epidermolytic palmoplantar keratoderma NEPPK Yes No Comparative Toxicogenomics Database:3868, Ensembl:ENSG00000186832, GenAtlas:KRT16, GeneCard:KRT16, HGNC:HGNC:6423, HumanCyc Gene:HS10290, ModBase:P08779, NCBI Gene:3868, OMIM:144200, OMIM:148067, OMIM:167200, OMIM:600962, OMIM:613000, RefSeq DNA:NG_008301, RefSeq DNA:NT_010783, RefSeq Protein:NP_005548, RefSeq RNA:NM_005557, UCSC Genome Browser:NM_005557, UniProtKB:P08779 No chr17 39766030 39769079 41609778 41612827 +PA30207 729252 HGNC:6420 ENSG00000214856 keratin 16 pseudogene 1 KRT16P1 Yes No Ensembl:ENSG00000214856, GenAtlas:KRT14P, GeneCard:KRT16P1, HGNC:HGNC:6420, NCBI Gene:729252, RefSeq DNA:NG_007001, RefSeq DNA:NT_010718 No chr17 18343222 18346209 18439908 18442895 +PA30214 3872 HGNC:6427 ENSG00000128422 keratin 17 KRT17 PCHC1 Yes No Comparative Toxicogenomics Database:3872, Ensembl:ENSG00000128422, GenAtlas:KRT17, GeneCard:KRT17, HGNC:HGNC:6427, HumanCyc Gene:HS10289, ModBase:Q8N1P6, NCBI Gene:3872, OMIM:148069, OMIM:167210, OMIM:184500, RefSeq DNA:NG_008625, RefSeq DNA:NT_010783, RefSeq Protein:NP_000413, RefSeq RNA:NM_000422, UCSC Genome Browser:NM_000422, UniProtKB:Q04695, UniProtKB:Q14666 No chr17 39775692 39780882 41619440 41624630 +PA30215 147228 HGNC:6428 ENSG00000131885 keratin 17 pseudogene 1 KRT17P1 Yes No Ensembl:ENSG00000131885, GenAtlas:KRT17P1, GeneCard:KRT17P1, HGNC:HGNC:6428, NCBI Gene:147228 No chr17 16745277 16749250 16841963 16845936 +PA30216 339241 HGNC:6429 ENSG00000186831 keratin 17 pseudogene 2 KRT17P2 Yes No Ensembl:ENSG00000186831, GenAtlas:KRT17P2, GeneCard:KRT17P2, HGNC:HGNC:6429, NCBI Gene:339241, RefSeq DNA:NG_002778, RefSeq DNA:NT_010718 No chr17 18330120 18334094 18426806 18430780 +PA30217 3875 HGNC:6430 ENSG00000111057 keratin 18 KRT18 Yes No Comparative Toxicogenomics Database:3875, Ensembl:ENSG00000111057, GenAtlas:KRT18, GeneCard:KRT18, HGNC:HGNC:6430, HumanCyc Gene:HS03365, ModBase:P05783, NCBI Gene:3875, OMIM:148070, OMIM:215600, RefSeq DNA:NG_008351, RefSeq DNA:NT_029419, RefSeq Protein:NP_000215, RefSeq Protein:NP_954657, RefSeq RNA:NM_000224, RefSeq RNA:NM_199187, UCSC Genome Browser:NM_000224, UniProtKB:P05783 No chr12 53342655 53346690 52948871 52952901 +PA30221 3879 HGNC:6434 ENSG00000228666 keratin 18 pseudogene 1 KRT18P1 dJ25J6.3 Yes No Ensembl:ENSG00000228666, GenAtlas:KRT18P1, GeneCard:KRT18P1, HGNC:HGNC:6434, NCBI Gene:3879, RefSeq DNA:NG_001024, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 28936849 28938244 28969072 28970467 +PA134955730 360019 HGNC:23962 ENSG00000214207 keratin 18 pseudogene 10 KRT18P10 Yes No Ensembl:ENSG00000214207, GeneCard:KRT18P10, HGNC:HGNC:23962, NCBI Gene:360019, RefSeq DNA:NG_002937, RefSeq DNA:NT_011896 No chrY 5441130 5442529 5573113 5574488 +PA30218 3876 HGNC:6431 ENSG00000215089 keratin 18 pseudogene 11 KRT18P11 Yes No Ensembl:ENSG00000215089, GenAtlas:KRT18L1, GeneCard:KRT18P11, HGNC:HGNC:6431, NCBI Gene:3876, RefSeq DNA:NG_005219, RefSeq DNA:NT_011651, UCSC Genome Browser:NM_032934 No chrX 91714610 91716008 92459635 92461009 +PA30222 54044 HGNC:6435 ENSG00000234439 keratin 18 pseudogene 2 KRT18P2 OTTHUMG00000078062 Yes No Ensembl:ENSG00000234439, GenAtlas:KRT18P2, GeneCard:KRT18P2, HGNC:HGNC:6435, NCBI Gene:54044, RefSeq DNA:NG_000918, RefSeq DNA:NT_011512 No chr21 21797207 21798519 20424895 20426169 +PA30223 170527 HGNC:16540 ENSG00000215553 keratin 18 pseudogene 3 KRT18P3 OTTHUMG00000032046, bA359G22.1 Yes No Ensembl:ENSG00000215553, GenAtlas:KRT18P3, GeneCard:KRT18P3, HGNC:HGNC:16540, NCBI Gene:170527, RefSeq DNA:NG_001043, RefSeq DNA:NT_011387 No chr20 22713371 22714774 22732733 22734091 +PA30224 391256 HGNC:16604 ENSG00000229222 keratin 18 pseudogene 4 KRT18P4 OTTHUMG00000032705, dJ963K23.1 Yes No Ensembl:ENSG00000229222, GenAtlas:KRT18P4, GeneCard:KRT18P4, HGNC:HGNC:16604, NCBI Gene:391256, RefSeq DNA:NG_001044, RefSeq DNA:NT_011362 No chr20 48573236 48574624 49956740 49958087 +PA134981424 728300 HGNC:19259 ENSG00000236670 keratin 18 pseudogene 5 KRT18P5 Yes No Ensembl:ENSG00000236670, GeneCard:KRT18P5, HGNC:HGNC:19259, NCBI Gene:728300, RefSeq DNA:NG_007006, RefSeq DNA:NT_011520 No chr22 20837035 20838442 20482748 20484155 +PA165756916 HGNC:38714 keratin 18 pseudogene 53 KRT18P53 Yes No HGNC:HGNC:38714 No +PA134954477 122592 HGNC:20280 ENSG00000258783 keratin 18 pseudogene 6 KRT18P6 Yes No Ensembl:ENSG00000258783, GeneCard:KRT18P6, HGNC:HGNC:20280, NCBI Gene:122592, RefSeq DNA:NG_007005, RefSeq DNA:NT_026437 No chr14 35980973 35982341 35511767 35513117 +PA134897220 100418877 HGNC:20283 ENSG00000258951 keratin 18 pseudogene 7 KRT18P7 Yes No Ensembl:ENSG00000258951, GeneCard:KRT18P7, HGNC:HGNC:20283, NCBI Gene:100418877 No chr14 71061219 71062609 70594502 70595892 +PA134882186 125242 HGNC:31093 ENSG00000264644 keratin 18 pseudogene 8 KRT18P8 Yes No Ensembl:ENSG00000264644, GeneCard:KRT18P8, HGNC:HGNC:31093, NCBI Gene:125242, RefSeq DNA:NG_006995, RefSeq DNA:NT_010859 No chr18 9678239 9678595 9678242 9678598 +PA134959550 442205 HGNC:17767 ENSG00000271231 keratin 18 pseudogene 9 KRT18P9 bA513I15.2 Yes No Ensembl:ENSG00000271231, GeneCard:KRT18P9, HGNC:HGNC:17767, NCBI Gene:442205, RefSeq DNA:NG_006996, RefSeq DNA:NT_007592 No chr6 34157509 34158918 34189776 34191141 +PA30225 3880 HGNC:6436 ENSG00000171345 keratin 19 KRT19 """40-kDa keratin intermediate filament"", ""cytokeratin 19"", ""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd""" CK19, K19, K1CS, MGC15366 Yes No Comparative Toxicogenomics Database:3880, Ensembl:ENSG00000171345, GenAtlas:KRT19, GeneCard:KRT19, HGNC:HGNC:6436, HumanCyc Gene:HS10291, ModBase:Q9P1Y4, NCBI Gene:3880, OMIM:148020, RefSeq DNA:NG_012285, RefSeq DNA:NT_010783, RefSeq Protein:NP_002267, RefSeq RNA:NM_002276, UCSC Genome Browser:NM_002276, UniProtKB:P08727 No chr17 39679869 39684641 41523617 41528389 +PA30227 3849 HGNC:6439 ENSG00000172867 keratin 2 KRT2 epidermal ichthyosis bullosa of Siemens KRT2A, KRTE Yes No Comparative Toxicogenomics Database:3849, Ensembl:ENSG00000172867, GenAtlas:KRT2, GeneCard:KRT2, HGNC:HGNC:6439, HumanCyc Gene:HS10583, ModBase:P35908, NCBI Gene:3849, OMIM:146800, OMIM:600194, RefSeq DNA:NG_008296, RefSeq DNA:NT_029419, RefSeq Protein:NP_000414, RefSeq RNA:NM_000423, UCSC Genome Browser:NM_000423, UniProtKB:P35908 No chr12 53038342 53045959 52644558 52652175 +PA134938907 54474 HGNC:20412 ENSG00000171431 keratin 20 KRT20 CK20, K20, MGC35423 Yes No Comparative Toxicogenomics Database:54474, Ensembl:ENSG00000171431, GeneCard:KRT20, HGNC:HGNC:20412, HumanCyc Gene:HS10302, ModBase:P35900, NCBI Gene:54474, OMIM:608218, RefSeq DNA:NG_012286, RefSeq DNA:NT_010783, RefSeq Protein:NP_061883, RefSeq RNA:NM_019010, UniProtKB:P35900 No chr17 39032141 39041495 40875889 40885243 +PA165432008 125113 HGNC:28695 ENSG00000213424 keratin 222 KRT222 KA21, KRT222P, MGC45562 Yes No Ensembl:ENSG00000213424, GeneCard:KRT222, HGNC:HGNC:28695, ModBase:Q8N1A0, NCBI Gene:125113, RefSeq DNA:NT_010755, RefSeq DNA:NT_010783, RefSeq Protein:NP_689562, RefSeq RNA:NM_152349, UniProtKB:Q8N1A0 No chr17 38811872 38821416 40655620 40665164 +PA147357884 643115 HGNC:32968 ENSG00000229028 keratin 223 pseudogene KRT223P Yes No Ensembl:ENSG00000229028, GeneCard:KRT223P, HGNC:HGNC:32968, NCBI Gene:643115, RefSeq DNA:NG_009669, RefSeq DNA:NT_010783 No chr17 38873792 38878184 40717540 40721932 +PA134914537 25984 HGNC:6438 ENSG00000108244 keratin 23 KRT23 keratin 23 (histone deacetylase inducible) CK23, DKFZP434G032, HAIK1, K23, MGC26158 Yes No Comparative Toxicogenomics Database:25984, Ensembl:ENSG00000108244, GeneCard:KRT23, HGNC:HGNC:6438, HumanCyc Gene:HS03074, ModBase:Q9C075, NCBI Gene:25984, OMIM:606194, RefSeq DNA:NG_012287, RefSeq DNA:NT_010783, RefSeq Protein:NP_056330, RefSeq RNA:NM_015515, UniProtKB:Q8TC04, UniProtKB:Q9C075, UniProtKB:Q9UFN7 No chr17 39078948 39093895 40922696 40937643 +PA38344 192666 HGNC:18527 ENSG00000167916 keratin 24 KRT24 FLJ20261, MGC138169, MGC138173 Yes No Ensembl:ENSG00000167916, GenAtlas:KRT24, GeneCard:KRT24, HGNC:HGNC:18527, ModBase:Q2M2I5, NCBI Gene:192666, OMIM:607742, RefSeq DNA:NG_012417, RefSeq DNA:NT_010783, RefSeq Protein:NP_061889, RefSeq RNA:NM_019016, UCSC Genome Browser:NM_019016, UniProtKB:Q2M2I5 No chr17 38854243 38860002 40694246 40703750 +PA134977088 147183 HGNC:30839 ENSG00000204897 keratin 25 KRT25 KRT25A Yes No Ensembl:ENSG00000204897, GeneCard:KRT25, HGNC:HGNC:30839, ModBase:Q7Z3Z0, NCBI Gene:147183, RefSeq DNA:NG_012414, RefSeq DNA:NT_010783, RefSeq Protein:NP_853512, RefSeq RNA:NM_181534, UniProtKB:Q6ZPD6, UniProtKB:Q7Z3Z0 No chr17 38904273 38911584 40748021 40755542 +PA134863261 353288 HGNC:30840 ENSG00000186393 keratin 26 KRT26 KRT25B Yes No Ensembl:ENSG00000186393, GeneCard:KRT26, HGNC:HGNC:30840, ModBase:Q7Z3Y9, NCBI Gene:353288, RefSeq DNA:NG_012487, RefSeq DNA:NT_010783, RefSeq Protein:NP_853517, RefSeq RNA:NM_181539, UniProtKB:Q7Z3Y9 No chr17 38922490 38928411 40766238 40772159 +PA134990976 342574 HGNC:30841 ENSG00000171446 keratin 27 KRT27 KRT25C Yes No Ensembl:ENSG00000171446, GeneCard:KRT27, HGNC:HGNC:30841, ModBase:Q7Z3Y8, NCBI Gene:342574, RefSeq DNA:NG_012418, RefSeq DNA:NT_010783, RefSeq Protein:NP_853515, RefSeq RNA:NM_181537, UniProtKB:Q7Z3Y8 No chr17 38933060 38938786 40776808 40782534 +PA134871316 162605 HGNC:30842 ENSG00000173908 keratin 28 KRT28 KRT25D Yes No Comparative Toxicogenomics Database:162605, Ensembl:ENSG00000173908, GeneCard:KRT28, HGNC:HGNC:30842, ModBase:Q7Z3Y7, NCBI Gene:162605, RefSeq DNA:NG_012419, RefSeq DNA:NT_010783, RefSeq Protein:NP_853513, RefSeq RNA:NM_181535, UniProtKB:Q7Z3Y7 No chr17 38948448 38956211 40792196 40799959 +PA30228 3850 HGNC:6440 ENSG00000186442 keratin 3 KRT3 """cytokeratin 3"", ""keratin, type II cytoskeletal 3""" CK3, K3 Yes No Comparative Toxicogenomics Database:3850, Ensembl:ENSG00000186442, GenAtlas:KRT3, GeneCard:KRT3, HGNC:HGNC:6440, HumanCyc Gene:HS10582, ModBase:P12035, NCBI Gene:3850, OMIM:122100, OMIM:148043, RefSeq DNA:NG_008350, RefSeq DNA:NT_029419, RefSeq Protein:NP_476429, RefSeq RNA:NM_057088, UCSC Genome Browser:NM_057088, UniProtKB:P12035 No chr12 53183469 53189892 52789685 52796108 +PA30237 3881 HGNC:6448 ENSG00000094796 keratin 31 KRT31 hard keratin type I 1 Ha-1, KRTHA1 Yes No Comparative Toxicogenomics Database:3881, Ensembl:ENSG00000094796, GenAtlas:KRT31, GeneCard:KRT31, HGNC:HGNC:6448, HumanCyc Gene:HS01802, ModBase:Q15323, NCBI Gene:3881, OMIM:601077, RefSeq DNA:NG_000018, RefSeq DNA:NG_012288, RefSeq DNA:NT_010783, RefSeq Protein:NP_002268, RefSeq RNA:NM_002277, UCSC Genome Browser:NM_002277, UniProtKB:Q15323 No chr17 39549976 39553844 41393724 41397592 +PA30238 3882 HGNC:6449 ENSG00000108759 keratin 32 KRT32 hard keratin type I Ha-2, KRTHA2 Yes No Comparative Toxicogenomics Database:3882, Ensembl:ENSG00000108759, GenAtlas:KRT32, GeneCard:KRT32, HGNC:HGNC:6449, HumanCyc Gene:HS03149, ModBase:Q14532, NCBI Gene:3882, OMIM:602760, RefSeq DNA:NG_012424, RefSeq DNA:NT_010783, RefSeq Protein:NP_002269, RefSeq RNA:NM_002278, UCSC Genome Browser:NM_002278, UniProtKB:Q14532 No chr17 39615765 39623638 41459513 41469252 +PA30239 3883 HGNC:6450 ENSG00000006059 keratin 33A KRT33A hard keratin type I 3I Ha-3I, KRTHA3A, Krt1-3 Yes No Ensembl:ENSG00000006059, GenAtlas:KRT33A, GeneCard:KRT33A, HGNC:HGNC:6450, HumanCyc Gene:HS00161, ModBase:O76009, NCBI Gene:3883, OMIM:602761, RefSeq DNA:NG_000018, RefSeq DNA:NG_012289, RefSeq DNA:NT_010783, RefSeq Protein:NP_004129, RefSeq RNA:NM_004138, UCSC Genome Browser:NM_004138, UniProtKB:O76009 No chr17 39502344 39507064 41345704 41350812 +PA30240 3884 HGNC:6451 ENSG00000131738 keratin 33B KRT33B hard keratin type I 3II Ha-3II, KRTHA3B Yes No Ensembl:ENSG00000131738, GenAtlas:KRT33B, GeneCard:KRT33B, HGNC:HGNC:6451, HumanCyc Gene:HS05558, ModBase:Q14525, NCBI Gene:3884, OMIM:602762, RefSeq DNA:NG_000018, RefSeq DNA:NG_012290, RefSeq DNA:NT_010783, RefSeq Protein:NP_002270, RefSeq RNA:NM_002279, UCSC Genome Browser:NM_002279, UniProtKB:Q14525 No chr17 39519746 39526052 41363494 41369800 +PA30241 3885 HGNC:6452 ENSG00000131737 keratin 34 KRT34 hard keratin type I 4 Ha-4, KRTHA4 Yes No Comparative Toxicogenomics Database:3885, Ensembl:ENSG00000131737, GenAtlas:KRT34, GeneCard:KRT34, HGNC:HGNC:6452, HumanCyc Gene:HS05557, ModBase:O76011, NCBI Gene:3885, OMIM:602763, RefSeq DNA:NG_000018, RefSeq DNA:NG_012291, RefSeq DNA:NT_010783, RefSeq Protein:NP_066293, RefSeq RNA:NM_021013, UCSC Genome Browser:NM_021013, UniProtKB:O76011 No chr17 39533921 39538636 41377650 41383816 +PA30242 3886 HGNC:6453 ENSG00000197079 keratin 35 KRT35 hard keratin type I 5 Ha-5, KRTHA5 Yes No Ensembl:ENSG00000197079, GenAtlas:KRT35, GeneCard:KRT35, HGNC:HGNC:6453, HumanCyc Gene:HS05011, NCBI Gene:3886, OMIM:602764, RefSeq DNA:NG_012292, RefSeq DNA:NT_010783, RefSeq Protein:NP_002271, RefSeq RNA:NM_002280, UCSC Genome Browser:NM_002280, UniProtKB:Q92764 No chr17 39632941 39637392 41476689 41482743 +PA30243 8689 HGNC:6454 ENSG00000126337 keratin 36 KRT36 KRTHA6 Yes No Ensembl:ENSG00000126337, GenAtlas:KRT36, GeneCard:KRT36, HGNC:HGNC:6454, ModBase:O76013, NCBI Gene:8689, OMIM:604540, RefSeq DNA:NG_012293, RefSeq DNA:NT_010783, RefSeq Protein:NP_003762, RefSeq RNA:NM_003771, UCSC Genome Browser:NM_003771, UniProtKB:O76013 No chr17 39642388 39648799 41486136 41489864 +PA30244 8688 HGNC:6455 ENSG00000108417 keratin 37 KRT37 KRTHA7 Yes No Comparative Toxicogenomics Database:8688, Ensembl:ENSG00000108417, GenAtlas:KRT37, GeneCard:KRT37, HGNC:HGNC:6455, HumanCyc Gene:HS03101, ModBase:O76014, NCBI Gene:8688, OMIM:604541, RefSeq DNA:NG_000018, RefSeq DNA:NG_012294, RefSeq DNA:NT_010783, RefSeq Protein:NP_003761, RefSeq RNA:NM_003770, UCSC Genome Browser:NM_003770, UniProtKB:O76014 No chr17 39576809 39580822 41420557 41424570 +PA30245 8687 HGNC:6456 ENSG00000171360 keratin 38 KRT38 KRTHA8 Yes No Ensembl:ENSG00000171360, GenAtlas:KRT38, GeneCard:KRT38, HGNC:HGNC:6456, HumanCyc Gene:HS10293, ModBase:O76015, NCBI Gene:8687, OMIM:604542, RefSeq DNA:NG_012295, RefSeq DNA:NT_010783, RefSeq Protein:NP_006762, RefSeq RNA:NM_006771, UCSC Genome Browser:NM_006771, UniProtKB:O76015 No chr17 39592621 39597596 41436369 41441344 +PA147357633 390792 HGNC:32971 ENSG00000196859 keratin 39 KRT39 KA35 Yes No Ensembl:ENSG00000196859, GeneCard:KRT39, HGNC:HGNC:32971, ModBase:Q6A163, NCBI Gene:390792, RefSeq DNA:NG_012415, RefSeq DNA:NT_010783, RefSeq Protein:NP_998821, RefSeq RNA:NM_213656, UniProtKB:Q6A163 No chr17 39114669 39123144 40958417 40966892 +PA30229 3851 HGNC:6441 ENSG00000170477 keratin 4 KRT4 """cytokeratin 4"", ""keratin, type II cytoskeletal 4""" CK4, CYK4, K4 Yes No Comparative Toxicogenomics Database:3851, Ensembl:ENSG00000170477, GenAtlas:KRT4, GeneCard:KRT4, HGNC:HGNC:6441, HumanCyc Gene:HS03342, ModBase:P19013, NCBI Gene:3851, OMIM:123940, OMIM:193900, RefSeq DNA:NG_007380, RefSeq DNA:NT_029419, RefSeq Protein:NP_002263, RefSeq RNA:NM_002272, UCSC Genome Browser:NM_002272, UniProtKB:P19013 No chr12 53200327 53207900 52806543 52814116 +PA147357651 125115 HGNC:26707 ENSG00000204889 keratin 40 KRT40 FLJ36600, KA36 Yes No Ensembl:ENSG00000204889, GeneCard:KRT40, HGNC:HGNC:26707, ModBase:Q6A162, NCBI Gene:125115, RefSeq DNA:NG_012412, RefSeq DNA:NT_010783, RefSeq Protein:NP_872303, RefSeq RNA:NM_182497, UniProtKB:Q6A162 No chr17 39133968 39143387 40977716 40987135 +PA30246 8686 HGNC:6457 ENSG00000225438 keratin 41 pseudogene KRT41P Yes No Ensembl:ENSG00000225438, GenAtlas:KRT41P, GeneCard:KRT41P, HGNC:HGNC:6457, NCBI Gene:8686, RefSeq DNA:NG_000018, RefSeq DNA:NT_010783 No chr17 39562291 39568951 41406039 41412699 +PA147357675 284116 HGNC:27581 ENSG00000214514 keratin 42 pseudogene KRT42P Yes No Ensembl:ENSG00000214514, GeneCard:KRT42P, HGNC:HGNC:27581, NCBI Gene:284116, RefSeq DNA:NG_006516, RefSeq DNA:NT_010783, RefSeq RNA:NR_033415 No chr17 39782579 39796451 41626327 41640199 +PA30230 3852 HGNC:6442 ENSG00000186081 keratin 5 KRT5 CK-5, EBS2, KRT5A Yes No Comparative Toxicogenomics Database:3852, Ensembl:ENSG00000186081, GenAtlas:KRT5, GeneCard:KRT5, HGNC:HGNC:6442, HumanCyc Gene:HS10136, ModBase:P13647, NCBI Gene:3852, OMIM:131760, OMIM:131800, OMIM:131900, OMIM:131960, OMIM:148040, OMIM:179850, OMIM:609352, RefSeq DNA:NG_008297, RefSeq DNA:NT_029419, RefSeq Protein:NP_000415, RefSeq RNA:NM_000424, UCSC Genome Browser:NM_000424, UniProtKB:P13647 No chr12 52908359 52914328 52514575 52520459 +PA30231 3853 HGNC:6443 ENSG00000205420 keratin 6A KRT6A CK6C, CK6D, K6C, K6D, KRT6C, KRT6D Yes No Comparative Toxicogenomics Database:3853, Ensembl:ENSG00000205420, GenAtlas:KRT6A, GeneCard:KRT6A, HGNC:HGNC:6443, HumanCyc Gene:HS01150, ModBase:P02538, NCBI Gene:3853, OMIM:148041, OMIM:167200, RefSeq DNA:NG_008298, RefSeq DNA:NT_029419, RefSeq Protein:NP_005545, RefSeq RNA:NM_005554, UCSC Genome Browser:NM_005554, UniProtKB:P02538 No chr12 52880958 52887181 52487174 52493397 +PA30232 3854 HGNC:6444 ENSG00000185479 keratin 6B KRT6B KRTL1 Yes No Comparative Toxicogenomics Database:3854, Ensembl:ENSG00000185479, GenAtlas:KRT6B, GeneCard:KRT6B, HGNC:HGNC:6444, NCBI Gene:3854, OMIM:148042, OMIM:167210, RefSeq DNA:NG_008299, RefSeq DNA:NT_029419, RefSeq Protein:NP_005546, RefSeq RNA:NM_005555, UCSC Genome Browser:NM_005555, UniProtKB:P04259 No chr12 52840435 52845910 52446651 52452126 +PA134891227 286887 HGNC:20406 ENSG00000170465 keratin 6C KRT6C KRT6E Yes No Comparative Toxicogenomics Database:286887, Ensembl:ENSG00000170465, GeneCard:KRT6C, HGNC:HGNC:20406, HumanCyc Gene:HS10135, ModBase:P48668, NCBI Gene:286887, OMIM:612315, RefSeq DNA:NG_012416, RefSeq DNA:NT_029419, RefSeq Protein:NP_775109, RefSeq RNA:NM_173086, UniProtKB:P48668 No chr12 52862300 52867569 52468516 52473785 +PA30233 3855 HGNC:6445 ENSG00000135480 keratin 7 KRT7 """cytokeratin 7"", ""keratin, 55K type II cytoskeletal"", ""keratin, type II cytoskeletal 7"", ""sarcolectin""" CK-7, CK7, K2C7, K7, SCL Yes No Comparative Toxicogenomics Database:3855, Ensembl:ENSG00000135480, GenAtlas:KRT7, GeneCard:KRT7, HGNC:HGNC:6445, HumanCyc Gene:HS06017, ModBase:P08729, NCBI Gene:3855, OMIM:148059, RefSeq DNA:NG_012296, RefSeq DNA:NT_029419, RefSeq Protein:NP_005547, RefSeq RNA:NM_005556, UCSC Genome Browser:NM_005556, UniProtKB:P08729 No chr12 52626954 52642709 52233170 52252667 +PA147357697 112802 HGNC:28927 ENSG00000139648 keratin 71 KRT71 K6IRS1, KRT6IRS, KRT6IRS1 Yes No Comparative Toxicogenomics Database:112802, Ensembl:ENSG00000139648, GeneCard:KRT71, HGNC:HGNC:28927, HumanCyc Gene:HS06646, ModBase:Q3SY84, NCBI Gene:112802, OMIM:608245, RefSeq DNA:NG_012426, RefSeq DNA:NT_029419, RefSeq Protein:NP_258259, RefSeq RNA:NM_033448, UniProtKB:Q3SY84 No chr12 52937693 52946931 52543909 52553147 +PA147357719 140807 HGNC:28932 ENSG00000170486 keratin 72 KRT72 K6IRS2, K6irs, KRT6, KRT6IRS2 Yes No Ensembl:ENSG00000170486, GeneCard:KRT72, HGNC:HGNC:28932, ModBase:Q14CN4, NCBI Gene:140807, OMIM:608246, RefSeq DNA:NG_012427, RefSeq DNA:NT_029419, RefSeq Protein:NP_001139697, RefSeq Protein:NP_001139698, RefSeq Protein:NP_542785, RefSeq RNA:NM_001146225, RefSeq RNA:NM_001146226, RefSeq RNA:NM_080747, UniProtKB:B4DEI8, UniProtKB:Q14CN4 No chr12 52979373 52995322 52585589 52602900 +PA147031702 319101 HGNC:28928 ENSG00000186049 keratin 73 KRT73 K6IRS3, KRT6IRS3 Yes No Ensembl:ENSG00000186049, GeneCard:KRT73, HGNC:HGNC:28928, HumanCyc Gene:HS15889, ModBase:Q86Y46, NCBI Gene:319101, OMIM:608247, RefSeq DNA:NG_012319, RefSeq DNA:NT_029419, RefSeq Protein:NP_778238, RefSeq RNA:NM_175068, UniProtKB:Q86Y46 No chr12 53001354 53012343 52601813 52620133 +PA147357741 121391 HGNC:28929 ENSG00000170484 keratin 74 KRT74 K6IRS4, KRT5C, KRT6IRS4 Yes No Ensembl:ENSG00000170484, GeneCard:KRT74, HGNC:HGNC:28929, HumanCyc Gene:HS15887, ModBase:Q7RTS7, NCBI Gene:121391, OMIM:194300, OMIM:608248, RefSeq DNA:NG_012321, RefSeq DNA:NT_029419, RefSeq Protein:NP_778223, RefSeq RNA:NM_175053, UniProtKB:Q7RTS7 No chr12 52959603 52967609 52565819 52573825 +PA147357763 9119 HGNC:24431 ENSG00000170454 keratin 75 KRT75 K6HF Yes No Comparative Toxicogenomics Database:9119, Ensembl:ENSG00000170454, GeneCard:KRT75, HGNC:HGNC:24431, HumanCyc Gene:HS10132, ModBase:O95678, NCBI Gene:9119, OMIM:609025, OMIM:612318, RefSeq DNA:NG_008403, RefSeq DNA:NT_029419, RefSeq Protein:NP_004684, RefSeq RNA:NM_004693, UniProtKB:O95678 No chr12 52817854 52828110 52424070 52434326 +PA147357785 51350 HGNC:24430 ENSG00000185069 keratin 76 KRT76 HUMCYT2A, KRT2B, KRT2P Yes No Ensembl:ENSG00000185069, GeneCard:KRT76, HGNC:HGNC:24430, ModBase:Q01546, NCBI Gene:51350, RefSeq DNA:NG_012420, RefSeq DNA:NT_029419, RefSeq Protein:NP_056932, RefSeq RNA:NM_015848, UniProtKB:Q01546 No chr12 53161939 53171129 52768155 52777345 +PA134896049 374454 HGNC:20411 ENSG00000189182 keratin 77 KRT77 KRT1B Yes No Ensembl:ENSG00000189182, GeneCard:KRT77, HGNC:HGNC:20411, ModBase:Q7Z794, NCBI Gene:374454, OMIM:611158, RefSeq DNA:NG_012322, RefSeq DNA:NT_029419, RefSeq Protein:NP_778253, RefSeq RNA:NM_175078, UniProtKB:Q0IIN1 No chr12 53083396 53097247 52689612 52703524 +PA147357807 196374 HGNC:28926 ENSG00000170423 keratin 78 KRT78 K5B Yes No Ensembl:ENSG00000170423, GeneCard:KRT78, HGNC:HGNC:28926, HumanCyc Gene:HS15879, ModBase:Q8N1N4, NCBI Gene:196374, OMIM:611159, RefSeq DNA:NG_012297, RefSeq DNA:NT_029419, RefSeq Protein:NP_775487, RefSeq RNA:NM_173352, UniProtKB:Q8N1N4 No chr12 53231588 53242778 52837804 52848994 +PA162393725 338785 HGNC:28930 ENSG00000185640 keratin 79 KRT79 keratin 6-like K6L, KRT6L Yes No Ensembl:ENSG00000185640, GeneCard:KRT79, HGNC:HGNC:28930, ModBase:Q5XKE5, NCBI Gene:338785, OMIM:611160, RefSeq DNA:NG_012323, RefSeq DNA:NT_029419, RefSeq Protein:NP_787028, RefSeq RNA:NM_175834, UniProtKB:Q5XKE5 No chr12 53215231 53228077 52821447 52834293 +PA30234 3856 HGNC:6446 ENSG00000170421 keratin 8 KRT8 CARD2, CK-8, CK8, CYK8, K2C8, K8, KO Yes No Comparative Toxicogenomics Database:3856, Ensembl:ENSG00000170421, GenAtlas:KRT8, GeneCard:KRT8, HGNC:HGNC:6446, HumanCyc Gene:HS10123, ModBase:Q96J60, NCBI Gene:3856, OMIM:148060, OMIM:215600, RefSeq DNA:NG_008402, RefSeq DNA:NT_029419, RefSeq Protein:NP_002264, RefSeq RNA:NM_002273, UCSC Genome Browser:NM_002273, UniProtKB:P05787 No chr12 53290971 53343650 52897187 52949866 +PA147357831 144501 HGNC:27056 ENSG00000167767 keratin 80 KRT80 KB20 Yes No Ensembl:ENSG00000167767, GeneCard:KRT80, HGNC:HGNC:27056, ModBase:Q6KB66, NCBI Gene:144501, OMIM:611161, RefSeq DNA:NG_012324, RefSeq DNA:NT_029419, RefSeq Protein:NP_001074961, RefSeq Protein:NP_872313, RefSeq RNA:NM_001081492, RefSeq RNA:NM_182507, UniProtKB:Q6KB66 No chr12 52562780 52585798 52168996 52192000 +PA30247 3887 HGNC:6458 ENSG00000205426 keratin 81 KRT81 hard keratin type II 1 Hb-1, KRTHB1 Yes No Comparative Toxicogenomics Database:3887, Ensembl:ENSG00000205426, GenAtlas:KRT81, GeneCard:KRT81, HGNC:HGNC:6458, ModBase:Q14533, NCBI Gene:3887, OMIM:158000, OMIM:602153, RefSeq DNA:NG_008184, RefSeq DNA:NT_029419, RefSeq Protein:NP_002272, RefSeq RNA:NM_002281, UCSC Genome Browser:NM_002281, UniProtKB:Q14533 No chr12 52679697 52685299 52285913 52291515 +PA30248 3888 HGNC:6459 ENSG00000161850 keratin 82 KRT82 hard keratin type II 2 Hb-2, KRTHB2 Yes No Comparative Toxicogenomics Database:3888, Ensembl:ENSG00000161850, GenAtlas:KRT82, GeneCard:KRT82, HGNC:HGNC:6459, HumanCyc Gene:HS08617, ModBase:Q9NSB4, NCBI Gene:3888, OMIM:601078, RefSeq DNA:NG_012298, RefSeq DNA:NT_029419, RefSeq Protein:NP_149022, RefSeq RNA:NM_033033, UCSC Genome Browser:NM_033033, UniProtKB:Q9NSB4 No chr12 52787735 52800176 52393951 52406392 +PA30249 3889 HGNC:6460 ENSG00000170523 keratin 83 KRT83 hard keratin type II Hb-3, KRTHB3 Yes No Comparative Toxicogenomics Database:3889, Ensembl:ENSG00000170523, GenAtlas:KRT83, GeneCard:KRT83, HGNC:HGNC:6460, HumanCyc Gene:HS10143, ModBase:P78385, NCBI Gene:3889, OMIM:158000, OMIM:602765, RefSeq DNA:NG_008352, RefSeq DNA:NT_029419, RefSeq Protein:NP_002273, RefSeq RNA:NM_002282, UCSC Genome Browser:NM_002282, UniProtKB:P78385 No chr12 52708085 52715182 52314301 52321398 +PA30250 3890 HGNC:6461 ENSG00000161849 keratin 84 KRT84 hard keratin type II 4 Hb-4, KRTHB4 Yes No Ensembl:ENSG00000161849, GenAtlas:KRT84, GeneCard:KRT84, HGNC:HGNC:6461, HumanCyc Gene:HS08616, ModBase:Q9NSB2, NCBI Gene:3890, OMIM:602766, RefSeq DNA:NG_012299, RefSeq DNA:NT_029419, RefSeq Protein:NP_149034, RefSeq RNA:NM_033045, UCSC Genome Browser:NM_033045, UniProtKB:Q9NSB2 No chr12 52771596 52779417 52377665 52386977 +PA30251 3891 HGNC:6462 ENSG00000135443 keratin 85 KRT85 hard keratin type II Hb-5, KRTHB5 Yes No Comparative Toxicogenomics Database:3891, Ensembl:ENSG00000135443, GenAtlas:KRT85, GeneCard:KRT85, HGNC:HGNC:6462, HumanCyc Gene:HS06006, ModBase:P78386, NCBI Gene:3891, OMIM:602032, OMIM:602767, RefSeq DNA:NG_008353, RefSeq DNA:NT_029419, RefSeq Protein:NP_002274, RefSeq RNA:NM_002283, UCSC Genome Browser:NM_002283, UniProtKB:P78386 No chr12 52753790 52761309 52360006 52367525 +PA30252 3892 HGNC:6463 ENSG00000170442 keratin 86 KRT86 hard keratin type II 6 Hb6, KRTHB6, MNX Yes No Comparative Toxicogenomics Database:3892, Ensembl:ENSG00000170442, GenAtlas:KRT86, GeneCard:KRT86, HGNC:HGNC:6463, HumanCyc Gene:HS10129, ModBase:O43790, NCBI Gene:3892, OMIM:158000, OMIM:601928, RefSeq DNA:NG_008086, RefSeq DNA:NT_029419, RefSeq Protein:NP_002275, RefSeq RNA:NM_002284, UCSC Genome Browser:NM_002284, UniProtKB:O43790 No chr12 52642892 52702947 52270507 52309163 +PA134869462 338017 HGNC:20281 ENSG00000258948 keratin 8 pseudogene 1 KRT8P1 Yes No Ensembl:ENSG00000258948, GeneCard:KRT8P1, HGNC:HGNC:20281, NCBI Gene:338017, RefSeq DNA:NG_007444, RefSeq DNA:NT_026437 No chr14 39196168 39197965 38726964 38728761 +PA134942573 347265 HGNC:31058 ENSG00000255815 keratin 8 pseudogene 11 KRT8P11 RP11-13B9.3 Yes No Ensembl:ENSG00000255815, HGNC:HGNC:31058, NCBI Gene:347265, RefSeq DNA:NG_005157, RefSeq DNA:NT_008470 No chr9 102067366 102069133 99305084 99306851 +PA142671573 90133 HGNC:28057 ENSG00000229320 keratin 8 pseudogene 12 KRT8P12 Yes No Comparative Toxicogenomics Database:90133, Ensembl:ENSG00000229320, HGNC:HGNC:28057, NCBI Gene:90133, RefSeq DNA:NG_005512 No chr3 160285567 160287260 160567779 160569472 +PA134928826 390472 HGNC:20282 ENSG00000258828 keratin 8 pseudogene 2 KRT8P2 OTTHUMG00000135122 Yes No Ensembl:ENSG00000258828, GeneCard:KRT8P2, HGNC:HGNC:20282, NCBI Gene:390472 No chr14 44009876 44010718 43540673 43541515 +PA134886898 342732 HGNC:31094 ENSG00000267573 keratin 8 pseudogene 5 KRT8P5 Yes No Ensembl:ENSG00000267573, GeneCard:KRT8P5, HGNC:HGNC:31094, NCBI Gene:342732, RefSeq DNA:NG_007003, RefSeq DNA:NT_010966 No chr18 41900525 41902253 44320560 44322288 +PA30235 3857 HGNC:6447 ENSG00000171403 keratin 9 KRT9 cytokeratin 9, epidermolytic palmoplantar keratoderma, type I cytoskeletal 9 CK-9, EPPK, K9 Yes No Comparative Toxicogenomics Database:3857, Ensembl:ENSG00000171403, GenAtlas:KRT9, GeneCard:KRT9, HGNC:HGNC:6447, HumanCyc Gene:HS10298, ModBase:P35527, NCBI Gene:3857, OMIM:144200, OMIM:607606, RefSeq DNA:NG_008300, RefSeq DNA:NT_010783, RefSeq Protein:NP_000217, RefSeq RNA:NM_000226, UCSC Genome Browser:NM_000226, UniProtKB:P35527 No chr17 39722093 39728310 41565841 41572058 +PA134884303 386677 HGNC:22966 ENSG00000215455 keratin associated protein 10-1 KRTAP10-1 KAP10.1, KAP18.1, KRTAP18-1 Yes No Ensembl:ENSG00000215455, GeneCard:KRTAP10-1, HGNC:HGNC:22966, ModBase:P60331, NCBI Gene:386677, RefSeq DNA:NT_011515, RefSeq Protein:NP_941964, RefSeq RNA:NM_198691, UniProtKB:P60331 No chr21 45959068 45960078 44539185 44540195 +PA134906562 353333 HGNC:22972 ENSG00000221859 keratin associated protein 10-10 KRTAP10-10 KAP10.10, KAP18.10, KRTAP18-10 Yes No Ensembl:ENSG00000221859, GeneCard:KRTAP10-10, HGNC:HGNC:22972, ModBase:P60014, NCBI Gene:353333, RefSeq DNA:NT_011515, RefSeq Protein:NP_859016, RefSeq RNA:NM_181688, UniProtKB:P60014 No chr21 46057273 46058372 44637356 44638455 +PA134873081 386678 HGNC:20528 ENSG00000243489 keratin associated protein 10-11 KRTAP10-11 KAP10.11, KAP18.11, KRTAP18-11, KRTAP18.11 Yes No Ensembl:ENSG00000243489, GeneCard:KRTAP10-11, HGNC:HGNC:20528, ModBase:P60412, NCBI Gene:386678, RefSeq DNA:NT_011515, RefSeq Protein:NP_941965, RefSeq RNA:NM_198692, UniProtKB:P60411, UniProtKB:P60412 No chr21 46066331 46067567 44646414 44647650 +PA134977717 386685 HGNC:20533 ENSG00000189169 keratin associated protein 10-12 KRTAP10-12 KAP10.12, KRTAP18-12, KRTAP18.12 Yes No Ensembl:ENSG00000189169, GeneCard:KRTAP10-12, HGNC:HGNC:20533, ModBase:P60413, NCBI Gene:386685, RefSeq DNA:NT_011515, RefSeq Protein:NP_941972, RefSeq RNA:NM_198699, UniProtKB:P60413 No chr21 46117087 46117959 44697172 44698044 +PA134989110 386679 HGNC:22967 ENSG00000205445 keratin associated protein 10-2 KRTAP10-2 KAP10.2, KAP18.2, KRTAP18-2 Yes No Ensembl:ENSG00000205445, GeneCard:KRTAP10-2, HGNC:HGNC:22967, ModBase:P60368, NCBI Gene:386679, RefSeq DNA:NT_011515, RefSeq Protein:NP_941966, RefSeq RNA:NM_198693, UniProtKB:P60368 No chr21 45970240 45971388 44550357 44551505 +PA134941853 386682 HGNC:22968 ENSG00000212935 keratin associated protein 10-3 KRTAP10-3 KAP10.3, KAP18.3, KRTAP18-3 Yes No Ensembl:ENSG00000212935, GeneCard:KRTAP10-3, HGNC:HGNC:22968, ModBase:P60369, NCBI Gene:386682, RefSeq DNA:NT_011515, RefSeq Protein:NP_941969, RefSeq RNA:NM_198696, UniProtKB:P60369 No chr21 45977906 45978643 44558023 44558760 +PA134942730 386672 HGNC:20521 ENSG00000215454 keratin associated protein 10-4 KRTAP10-4 KAP10.4, KRTAP18-4, KRTAP18.4 Yes Yes Ensembl:ENSG00000215454, GeneCard:KRTAP10-4, HGNC:HGNC:20521, ModBase:P60372, NCBI Gene:386672, RefSeq DNA:NT_011515, RefSeq Protein:NP_941960, RefSeq RNA:NM_198687, UniProtKB:P60372 No chr21 45993606 45994987 44573729 44575371 +PA134950015 386680 HGNC:22969 ENSG00000241123 keratin associated protein 10-5 KRTAP10-5 KAP10.5, KAP18.5, KRTAP18-5 Yes No Ensembl:ENSG00000241123, GeneCard:KRTAP10-5, HGNC:HGNC:22969, ModBase:P60370, NCBI Gene:386680, RefSeq DNA:NT_011515, RefSeq Protein:NP_941967, RefSeq RNA:NM_198694, UniProtKB:P60370 No chr21 45999564 46000481 44579455 44580604 +PA134871340 386674 HGNC:20523 ENSG00000188155 keratin associated protein 10-6 KRTAP10-6 KAP10.6, KAP18.6, KRTAP18-6, KRTAP18.6 Yes No Ensembl:ENSG00000188155, GeneCard:KRTAP10-6, HGNC:HGNC:20523, ModBase:P60371, NCBI Gene:386674, RefSeq DNA:NT_011515, RefSeq Protein:NP_941961, RefSeq RNA:NM_198688, UniProtKB:P60371 No chr21 46011149 46012386 44591268 44592505 +PA134976547 386675 HGNC:22970 ENSG00000272804 keratin associated protein 10-7 KRTAP10-7 KAP10.7, KAP18.7, KRTAP18-7 Yes No Ensembl:ENSG00000272804, GeneCard:KRTAP10-7, HGNC:HGNC:22970, NCBI Gene:386675, RefSeq DNA:NT_011515, RefSeq Protein:NP_941962, RefSeq RNA:NM_198689, UniProtKB:P60409 No chr21 46020497 46022091 44600597 44602174 +PA134968895 386681 HGNC:20525 ENSG00000187766 keratin associated protein 10-8 KRTAP10-8 KAP10.8, KRTAP18-8, KRTAP18.8 Yes No Ensembl:ENSG00000187766, GeneCard:KRTAP10-8, HGNC:HGNC:20525, NCBI Gene:386681, RefSeq DNA:NT_011515, RefSeq Protein:NP_941968, RefSeq RNA:NM_198695, UniProtKB:P60410 No chr21 46031996 46032871 44612079 44612954 +PA134991131 386676 HGNC:22971 ENSG00000221837 keratin associated protein 10-9 KRTAP10-9 KAP10.9, KAP18.9, KRTAP18-9 Yes No Ensembl:ENSG00000221837, GeneCard:KRTAP10-9, HGNC:HGNC:22971, ModBase:P60411, NCBI Gene:386676, RefSeq DNA:NT_011515, RefSeq Protein:NP_941963, RefSeq RNA:NM_198690 No chr21 46047040 46048295 44627123 44628378 +PA38412 81851 HGNC:16772 ENSG00000188581 keratin associated protein 1-1 KRTAP1-1 HB2A, KAP1.1, KAP1.1A, KAP1.1B Yes No Ensembl:ENSG00000188581, GenAtlas:KRTAP1-1, GeneCard:KRTAP1-1, HGNC:HGNC:16772, ModBase:Q07627, NCBI Gene:81851, OMIM:608819, RefSeq DNA:NT_010783, RefSeq Protein:NP_112229, RefSeq RNA:NM_030967, UCSC Genome Browser:NM_030967, UniProtKB:Q07627 No chr17 39196811 39197713 41040559 41041461 +PA134907329 337880 HGNC:18922 ENSG00000182591 keratin associated protein 11-1 KRTAP11-1 KAP11.1 Yes No Ensembl:ENSG00000182591, GeneCard:KRTAP11-1, HGNC:HGNC:18922, ModBase:Q8IUC1, NCBI Gene:337880, OMIM:600064, RefSeq DNA:NT_011512, RefSeq Protein:NP_787054, RefSeq RNA:NM_175858, UniProtKB:Q8IUC1 No chr21 32252963 32253874 30880644 30881555 +PA134971238 353332 HGNC:20529 ENSG00000187175 keratin associated protein 12-1 KRTAP12-1 KAP12.1, KRTAP12.1 Yes No Ensembl:ENSG00000187175, GeneCard:KRTAP12-1, HGNC:HGNC:20529, ModBase:P59990, NCBI Gene:353332, RefSeq DNA:NT_011515, RefSeq Protein:NP_859014, RefSeq RNA:NM_181686, UniProtKB:P59990 No chr21 46101491 46102078 44681576 44682163 +PA134993440 353323 HGNC:20530 ENSG00000221864 keratin associated protein 12-2 KRTAP12-2 KAP12.2, KRTAP12.2 Yes No Ensembl:ENSG00000221864, GeneCard:KRTAP12-2, HGNC:HGNC:20530, ModBase:P59991, NCBI Gene:353323, RefSeq DNA:NT_011515, RefSeq Protein:NP_859012, RefSeq RNA:NM_181684, UniProtKB:P59991 No chr21 46086106 46086844 44666189 44666927 +PA134986807 386683 HGNC:20531 ENSG00000205439 keratin associated protein 12-3 KRTAP12-3 KRTAP12.3 Yes No Ensembl:ENSG00000205439, GeneCard:KRTAP12-3, HGNC:HGNC:20531, NCBI Gene:386683, RefSeq DNA:NT_011515, RefSeq Protein:NP_941970, RefSeq RNA:NM_198697, UniProtKB:P60328 No chr21 46077849 46078258 44657932 44658341 +PA134932676 386684 HGNC:20532 ENSG00000212933 keratin associated protein 12-4 KRTAP12-4 KRTAP12.4 Yes No Ensembl:ENSG00000212933, GeneCard:KRTAP12-4, HGNC:HGNC:20532, ModBase:P60329, NCBI Gene:386684, RefSeq DNA:NT_011515, RefSeq Protein:NP_941971, RefSeq RNA:NM_198698, UniProtKB:P60329 No chr21 46074130 46074576 44654213 44654659 +PA38411 81850 HGNC:16771 ENSG00000221880 keratin associated protein 1-3 KRTAP1-3 KAP1.3 Yes No Ensembl:ENSG00000221880, GenAtlas:KRTAP1-3, GeneCard:KRTAP1-3, HGNC:HGNC:16771, NCBI Gene:81850, OMIM:608820, RefSeq DNA:NT_010783, RefSeq Protein:NP_112228, RefSeq RNA:NM_030966, UCSC Genome Browser:NM_030966, UniProtKB:Q8IUG1 No chr17 39190136 39191107 41033884 41034855 +PA134987916 140258 HGNC:18924 ENSG00000198390 keratin associated protein 13-1 KRTAP13-1 KAP13.1 Yes No Ensembl:ENSG00000198390, GeneCard:KRTAP13-1, HGNC:HGNC:18924, ModBase:Q8IUC0, NCBI Gene:140258, OMIM:608718, RefSeq DNA:NT_011512, RefSeq Protein:NP_853630, RefSeq RNA:NM_181599, UniProtKB:Q8IUC0 No chr21 31768392 31769140 30396074 30396822 +PA134994193 337959 HGNC:18923 ENSG00000182816 keratin associated protein 13-2 KRTAP13-2 KAP13-2 Yes No Ensembl:ENSG00000182816, GeneCard:KRTAP13-2, HGNC:HGNC:18923, ModBase:Q52LG2, NCBI Gene:337959, RefSeq DNA:NT_011512, RefSeq Protein:NP_853652, RefSeq RNA:NM_181621, UniProtKB:Q52LG2 No chr21 31743709 31744557 30371391 30372239 +PA134901486 337960 HGNC:18925 ENSG00000240432 keratin associated protein 13-3 KRTAP13-3 KAP13.3 Yes No Ensembl:ENSG00000240432, GeneCard:KRTAP13-3, HGNC:HGNC:18925, ModBase:Q3SY46, NCBI Gene:337960, RefSeq DNA:NT_011512, RefSeq Protein:NP_853653, RefSeq RNA:NM_181622, UniProtKB:Q3SY46 No chr21 31797711 31798230 30425393 30425912 +PA134861175 284827 HGNC:18926 ENSG00000186971 keratin associated protein 13-4 KRTAP13-4 KAP13.4 Yes No Ensembl:ENSG00000186971, GeneCard:KRTAP13-4, HGNC:HGNC:18926, ModBase:Q3LI77, NCBI Gene:284827, RefSeq DNA:NT_011512, RefSeq Protein:NP_853631, RefSeq RNA:NM_181600, UniProtKB:Q3LI77 No chr21 31802594 31803076 30430276 30430758 +PA134948140 337964 HGNC:18929 ENSG00000233640 keratin associated protein 13-5, pseudogene KRTAP13-5P KAP13A Yes No Ensembl:ENSG00000233640, HGNC:HGNC:18929, NCBI Gene:337964, RefSeq DNA:NG_002667, RefSeq DNA:NT_011512 No chr21 31808972 31809271 30436654 30436953 +PA134871668 337965 HGNC:18930 ENSG00000250973 keratin associated protein 13-6, pseudogene KRTAP13-6P KAP13B Yes No Ensembl:ENSG00000250973, HGNC:HGNC:18930, NCBI Gene:337965, RefSeq DNA:NG_002668, RefSeq DNA:NT_011512 No chr21 31729093 31729193 30356775 30356875 +PA38752 728255 HGNC:18904 ENSG00000204887 keratin associated protein 1-4 KRTAP1-4 KAP1.4 Yes No Ensembl:ENSG00000204887, GenAtlas:KRTAP1-4, GeneCard:KRTAP1-4, HGNC:HGNC:18904, ModBase:P0C5Y4, NCBI Gene:728255, OMIM:608821, RefSeq DNA:NT_010783, RefSeq Protein:XP_001127005, RefSeq Protein:XP_002347801, RefSeq RNA:XM_001127005, RefSeq RNA:XM_002347760 No chr17 39185929 39186377 41029677 41030125 +PA38417 83895 HGNC:16777 ENSG00000221852 keratin associated protein 1-5 KRTAP1-5 KAP1.5 Yes No Ensembl:ENSG00000221852, GenAtlas:KRTAP1-5, GeneCard:KRTAP1-5, HGNC:HGNC:16777, ModBase:Q9BYS1, NCBI Gene:83895, OMIM:608822, RefSeq DNA:NT_010783, RefSeq Protein:NP_114163, RefSeq RNA:NM_031957, UCSC Genome Browser:NM_031957, UniProtKB:Q9BYS1 No chr17 39182278 39183454 41026026 41027202 +PA134911178 254950 HGNC:18927 ENSG00000186970 keratin associated protein 15-1 KRTAP15-1 KAP15.1 Yes No Ensembl:ENSG00000186970, GeneCard:KRTAP15-1, HGNC:HGNC:18927, ModBase:Q3LI76, NCBI Gene:254950, RefSeq DNA:NT_011512, RefSeq Protein:NP_853654, RefSeq RNA:NM_181623, UniProtKB:Q3LI76 No chr21 31812646 31813098 30440328 30440780 +PA134895884 100505753 HGNC:18916 ENSG00000212657 keratin associated protein 16-1 KRTAP16-1 KAP16.1 Yes No Ensembl:ENSG00000212657, GeneCard:KRTAP16-1, HGNC:HGNC:18916, NCBI Gene:100505753, RefSeq DNA:NT_010783, RefSeq Protein:XP_001719387, RefSeq Protein:XP_001723410, RefSeq Protein:XP_002343557, RefSeq RNA:XM_001719335, RefSeq RNA:XM_001723358, RefSeq RNA:XM_002343516, UniProtKB:A8MUX0 No chr17 39463952 39465505 41307700 41309253 +PA38763 83902 HGNC:18917 ENSG00000186860 keratin associated protein 17-1 KRTAP17-1 KAP17.1 Yes No Ensembl:ENSG00000186860, GenAtlas:KRTAP17-1, GeneCard:KRTAP17-1, HGNC:HGNC:18917, ModBase:Q9BYP8, NCBI Gene:83902, RefSeq DNA:NT_010783, RefSeq Protein:NP_114170, RefSeq RNA:NM_031964, UCSC Genome Browser:NM_031964, UniProtKB:Q9BYP8 No chr17 39471169 39471947 41314917 41315695 +PA134956142 337882 HGNC:18936 ENSG00000184351 keratin associated protein 19-1 KRTAP19-1 KAP19.1 Yes No Ensembl:ENSG00000184351, GeneCard:KRTAP19-1, HGNC:HGNC:18936, ModBase:Q8IUB9, NCBI Gene:337882, RefSeq DNA:NT_011512, RefSeq Protein:NP_853638, RefSeq RNA:NM_181607, UniProtKB:Q8IUB9 No chr21 31852364 31852636 30480045 30480317 +PA134904333 337983 HGNC:18951 ENSG00000235312 keratin associated protein 19-10, pseudogene KRTAP19-10P KAP19B Yes No Ensembl:ENSG00000235312, HGNC:HGNC:18951, NCBI Gene:337983, RefSeq DNA:NG_002689, RefSeq DNA:NT_011512 No chr21 31886898 31887149 30514580 30514831 +PA134879670 337984 HGNC:18952 ENSG00000236612 keratin associated protein 19-11, pseudogene KRTAP19-11P KAP19C Yes No Ensembl:ENSG00000236612, HGNC:HGNC:18952, NCBI Gene:337984, RefSeq DNA:NG_002671, RefSeq DNA:NT_011512 No chr21 31909497 31909727 30537178 30537408 +PA134969992 337969 HGNC:18937 ENSG00000186965 keratin associated protein 19-2 KRTAP19-2 KAP19.2 Yes No Ensembl:ENSG00000186965, GeneCard:KRTAP19-2, HGNC:HGNC:18937, ModBase:Q3LHN2, NCBI Gene:337969, RefSeq DNA:NT_011512, RefSeq Protein:NP_853639, RefSeq RNA:NM_181608, UniProtKB:Q3LHN2 No chr21 31859509 31859667 30487190 30487348 +PA134977711 337970 HGNC:18938 ENSG00000244025 keratin associated protein 19-3 KRTAP19-3 KAP19.3 Yes No Ensembl:ENSG00000244025, GeneCard:KRTAP19-3, HGNC:HGNC:18938, ModBase:Q7Z4W3, NCBI Gene:337970, RefSeq DNA:NT_011512, RefSeq Protein:NP_853640, RefSeq RNA:NM_181609, UniProtKB:Q7Z4W3 No chr21 31863782 31864275 30491464 30491957 +PA134984740 337971 HGNC:18939 ENSG00000186967 keratin associated protein 19-4 KRTAP19-4 KAP19.4 Yes No Ensembl:ENSG00000186967, GeneCard:KRTAP19-4, HGNC:HGNC:18939, ModBase:Q3LI73, NCBI Gene:337971, RefSeq DNA:NT_011512, RefSeq Protein:NP_853641, RefSeq RNA:NM_181610, UniProtKB:Q3LI73 No chr21 31869174 31869428 30496856 30497110 +PA134992782 337972 HGNC:18940 ENSG00000186977 keratin associated protein 19-5 KRTAP19-5 KAP19.5 Yes No Ensembl:ENSG00000186977, GeneCard:KRTAP19-5, HGNC:HGNC:18940, ModBase:Q3LI72, NCBI Gene:337972, RefSeq DNA:NT_011512, RefSeq Protein:NP_853642, RefSeq RNA:NM_181611, UniProtKB:Q3LI72 No chr21 31874190 31874408 30501872 30502090 +PA134901069 337973 HGNC:18941 ENSG00000186925 keratin associated protein 19-6 KRTAP19-6 KAP19.6 Yes No Ensembl:ENSG00000186925, GeneCard:KRTAP19-6, HGNC:HGNC:18941, ModBase:Q3LI70, NCBI Gene:337973, RefSeq DNA:NT_011512, RefSeq Protein:NP_853643, RefSeq RNA:NM_181612, UniProtKB:Q3LI70 No chr21 31913854 31914181 30541535 30541864 +PA134868084 337974 HGNC:18942 ENSG00000244362 keratin associated protein 19-7 KRTAP19-7 KAP19.7 Yes No Ensembl:ENSG00000244362, GeneCard:KRTAP19-7, HGNC:HGNC:18942, ModBase:Q3SYF9, NCBI Gene:337974, RefSeq DNA:NT_011512, RefSeq Protein:NP_853645, RefSeq RNA:NM_181614, UniProtKB:Q3SYF9 No chr21 31933417 31933608 30561098 30561289 +PA162393748 728299 HGNC:33898 ENSG00000206102 keratin associated protein 19-8 KRTAP19-8 Yes No Ensembl:ENSG00000206102, GeneCard:KRTAP19-8, HGNC:HGNC:33898, ModBase:Q3LI54, NCBI Gene:728299, RefSeq DNA:NT_011512, RefSeq Protein:NP_001092689, RefSeq RNA:NM_001099219, UniProtKB:Q3LI54 No chr21 32410478 32410795 31038159 31038476 +PA134983195 337982 HGNC:18950 ENSG00000237841 keratin associated protein 19-9, pseudogene KRTAP19-9P KAP19A Yes No Ensembl:ENSG00000237841, HGNC:HGNC:18950, NCBI Gene:337982, RefSeq DNA:NG_002688, RefSeq DNA:NT_011512 No chr21 31882605 31882807 30510287 30510489 +PA134953935 337975 HGNC:18943 ENSG00000244624 keratin associated protein 20-1 KRTAP20-1 KAP20.1 Yes No Ensembl:ENSG00000244624, GeneCard:KRTAP20-1, HGNC:HGNC:18943, ModBase:Q3LI63, NCBI Gene:337975, RefSeq DNA:NT_011512, RefSeq Protein:NP_853646, RefSeq RNA:NM_181615, UniProtKB:Q3LI63 No chr21 31988774 31988944 30616455 30616625 +PA134896461 337976 HGNC:18944 ENSG00000184032 keratin associated protein 20-2 KRTAP20-2 KAP20.2 Yes No Ensembl:ENSG00000184032, GeneCard:KRTAP20-2, HGNC:HGNC:18944, ModBase:Q3LI61, NCBI Gene:337976, RefSeq DNA:NT_011512, RefSeq Protein:NP_853647, RefSeq RNA:NM_181616, UniProtKB:Q3LI61 No chr21 32007583 32007780 30635264 30635461 +PA162393749 337985 HGNC:34001 ENSG00000206104 keratin associated protein 20-3 KRTAP20-3 KAP19D, KAP20.3, KRTAP19P4 Yes No Ensembl:ENSG00000206104, GeneCard:KRTAP20-3, HGNC:HGNC:34001, NCBI Gene:337985, RefSeq DNA:NT_011512, RefSeq Protein:NP_001121549, RefSeq RNA:NM_001128077, UniProtKB:Q3LI60 No chr21 32015183 32015455 30642864 30643136 +PA162393750 100151643 HGNC:34002 ENSG00000206105 keratin associated protein 20-4 KRTAP20-4 KAP20.4 Yes No Ensembl:ENSG00000206105, GeneCard:KRTAP20-4, HGNC:HGNC:34002, NCBI Gene:100151643, RefSeq DNA:NT_011512, RefSeq RNA:NR_023342 No chr21 31992946 31993169 30620627 30620850 +PA38415 81872 HGNC:16775 ENSG00000212725 keratin associated protein 2-1 KRTAP2-1 KAP2.1A Yes No Ensembl:ENSG00000212725, GenAtlas:KRTAP2-1, GeneCard:KRTAP2-1, HGNC:HGNC:16775, ModBase:Q9BYU5, NCBI Gene:81872, RefSeq DNA:NT_010783, RefSeq Protein:NP_001116859, RefSeq RNA:NM_001123387, UniProtKB:Q9BYU5 No chr17 39202793 39203568 41046541 41047316 +PA134897035 337977 HGNC:18945 ENSG00000187005 keratin associated protein 21-1 KRTAP21-1 KAP21.1 Yes No Ensembl:ENSG00000187005, GeneCard:KRTAP21-1, HGNC:HGNC:18945, ModBase:Q3LI58, NCBI Gene:337977, RefSeq DNA:NT_011512, RefSeq Protein:NP_853650, RefSeq RNA:NM_181619, UniProtKB:Q3LI58 No chr21 32127457 32127696 30755139 30755378 +PA134884584 337978 HGNC:18946 ENSG00000187026 keratin associated protein 21-2 KRTAP21-2 KAP21.2 Yes No Ensembl:ENSG00000187026, GeneCard:KRTAP21-2, HGNC:HGNC:18946, NCBI Gene:337978, RefSeq DNA:NT_011512, RefSeq Protein:NP_853648, RefSeq RNA:NM_181617, UniProtKB:Q3LI59 No chr21 32119269 32119520 30746951 30747202 +PA165378419 100288323 HGNC:34216 ENSG00000231068 keratin associated protein 21-3 KRTAP21-3 Yes No Ensembl:ENSG00000231068, GeneCard:KRTAP21-3, HGNC:HGNC:34216, NCBI Gene:100288323, RefSeq DNA:NT_011512, RefSeq Protein:NP_001157907, RefSeq Protein:XP_002343782, RefSeq Protein:XP_002345483, RefSeq Protein:XP_002348099, RefSeq RNA:NM_001164435, RefSeq RNA:XM_002343741, RefSeq RNA:XM_002345442, RefSeq RNA:XM_002348058, UniProtKB:Q3LHN1 No chr21 32090843 32091095 30718525 30718777 +PA134942292 337986 HGNC:18954 ENSG00000236400 keratin associated protein 21-4, pseudogene KRTAP21-4P KAP21A Yes No Ensembl:ENSG00000236400, HGNC:HGNC:18954, NCBI Gene:337986, RefSeq DNA:NG_002673, RefSeq DNA:NT_011512 No chr21 32114099 32114932 30741781 30742614 +PA38753 728279 HGNC:18905 ENSG00000214518 keratin associated protein 2-2 KRTAP2-2 KAP2.2 Yes No Ensembl:ENSG00000214518, GenAtlas:KRTAP2-2, GeneCard:KRTAP2-2, HGNC:HGNC:18905, NCBI Gene:728279, RefSeq DNA:NT_010783, RefSeq Protein:NP_149021, RefSeq RNA:NM_033032, UniProtKB:A8MTN3 No chr17 39210750 39211463 41054498 41055211 +PA134897377 337979 HGNC:18947 ENSG00000186924 keratin associated protein 22-1 KRTAP22-1 KAP22.1 Yes No Ensembl:ENSG00000186924, GeneCard:KRTAP22-1, HGNC:HGNC:18947, NCBI Gene:337979, RefSeq DNA:NT_011512, RefSeq Protein:NP_853651, RefSeq RNA:NM_181620, UniProtKB:Q3MIV0 No chr21 31973440 31973586 30601121 30601267 +PA165378424 100288287 HGNC:37091 ENSG00000206106 keratin associated protein 22-2 KRTAP22-2 KAP22.2 Yes No Ensembl:ENSG00000206106, GeneCard:KRTAP22-2, HGNC:HGNC:37091, NCBI Gene:100288287, RefSeq DNA:NT_011512, RefSeq Protein:NP_001157906, RefSeq Protein:XP_002343781, RefSeq Protein:XP_002345482, RefSeq Protein:XP_002348098, RefSeq RNA:NM_001164434, RefSeq RNA:XM_002343740, RefSeq RNA:XM_002345441, RefSeq RNA:XM_002348057, UniProtKB:Q3LI68 No chr21 31962424 31962716 30590105 30590397 +PA38754 730755 HGNC:18906 ENSG00000212724 keratin associated protein 2-3 KRTAP2-3 KAP2.3 Yes No Ensembl:ENSG00000212724, GenAtlas:KRTAP2-3, GeneCard:KRTAP2-3, HGNC:HGNC:18906, NCBI Gene:730755 No chr17 39215492 39216344 41059240 41060092 +PA134978709 337963 HGNC:18928 ENSG00000186980 keratin associated protein 23-1 KRTAP23-1 KAP23.1 Yes No Ensembl:ENSG00000186980, GeneCard:KRTAP23-1, HGNC:HGNC:18928, NCBI Gene:337963, RefSeq DNA:NT_011512, RefSeq Protein:NP_853655, RefSeq RNA:NM_181624, UniProtKB:A1A580 No chr21 31720717 31720924 30348399 30348606 +PA38743 85294 HGNC:18891 ENSG00000212724, ENSG00000213417 keratin associated protein 2-4 KRTAP2-4 KAP2.4 Yes No Ensembl:ENSG00000212724, Ensembl:ENSG00000213417, GenAtlas:KRTAP2-4, GeneCard:KRTAP2-4, HGNC:HGNC:18891, ModBase:Q9BYR9, NCBI Gene:85294, RefSeq DNA:NT_010783, RefSeq Protein:NP_149440, RefSeq RNA:NM_033184, UCSC Genome Browser:NM_033184, UniProtKB:Q9BYR9 No chr17 39221368 39222131 41065116 41065879 +PA162393751 643803 HGNC:33902 ENSG00000188694 keratin associated protein 24-1 KRTAP24-1 KAP24.1 Yes No Ensembl:ENSG00000188694, GeneCard:KRTAP24-1, HGNC:HGNC:33902, ModBase:Q3LI83, NCBI Gene:643803, RefSeq DNA:NT_011512, RefSeq Protein:NP_001078924, RefSeq RNA:NM_001085455, UniProtKB:Q3LI83 No chr21 31653627 31655276 30281309 30282958 +PA162393758 100131902 HGNC:34003 ENSG00000232263 keratin associated protein 25-1 KRTAP25-1 KAP25.1 Yes No Ensembl:ENSG00000232263, GeneCard:KRTAP25-1, HGNC:HGNC:34003, ModBase:Q3LHN0, NCBI Gene:100131902, RefSeq DNA:NT_011512, RefSeq Protein:NP_001122070, RefSeq RNA:NM_001128598, UniProtKB:Q3LHN0 No chr21 31661463 31661832 30289145 30289514 +PA38766 85343 HGNC:18920 ENSG00000237230 keratin associated protein 2-5, pseudogene KRTAP2-5P KAP2A Yes No Ensembl:ENSG00000237230, GenAtlas:KRTAP2P1, GeneCard:KRTAP2-5P, HGNC:HGNC:18920, NCBI Gene:85343, RefSeq DNA:NG_000939, RefSeq DNA:NT_113931 No chr17 39228198 39228598 41071946 41072346 +PA162393763 388818 HGNC:33760 ENSG00000197683 keratin associated protein 26-1 KRTAP26-1 Yes No Ensembl:ENSG00000197683, GeneCard:KRTAP26-1, HGNC:HGNC:33760, ModBase:Q6PEX3, NCBI Gene:388818, RefSeq DNA:NT_011512, RefSeq Protein:NP_981950, RefSeq RNA:NM_203405, UniProtKB:Q6PEX3 No chr21 31691449 31692607 30319131 30320289 +PA162393770 643812 HGNC:33864 ENSG00000206107 keratin associated protein 27-1 KRTAP27-1 Yes No Ensembl:ENSG00000206107, GeneCard:KRTAP27-1, HGNC:HGNC:33864, ModBase:Q3LI81, NCBI Gene:643812, RefSeq DNA:NT_011512, RefSeq Protein:NP_001071179, RefSeq RNA:NM_001077711, UniProtKB:Q3LI81 No chr21 31709331 31710012 30337013 30337694 +PA165432061 100533177 HGNC:34211 ENSG00000212658 keratin associated like protein 29-1 KRTAP29-1 keratin associated protein 29-1 KAP29.2 Yes No Ensembl:ENSG00000212658, HGNC:HGNC:34211, NCBI Gene:100533177 No chr17 39458078 39459103 41301826 41302851 +PA38418 83896 HGNC:16778 ENSG00000212901 keratin associated protein 3-1 KRTAP3-1 KAP3.1 Yes No Ensembl:ENSG00000212901, GenAtlas:KRTAP3-1, GeneCard:KRTAP3-1, HGNC:HGNC:16778, ModBase:Q9BYR8, NCBI Gene:83896, RefSeq DNA:NT_010783, RefSeq Protein:NP_114164, RefSeq RNA:NM_031958, UCSC Genome Browser:NM_031958, UniProtKB:Q9BYR8 No chr17 39164773 39165366 41008521 41009114 +PA38419 83897 HGNC:16779 ENSG00000212900 keratin associated protein 3-2 KRTAP3-2 KAP3.2 Yes No Ensembl:ENSG00000212900, GenAtlas:KRTAP3-2, GeneCard:KRTAP3-2, HGNC:HGNC:16779, HumanCyc Gene:HS17530, ModBase:Q9BYR7, NCBI Gene:83897, RefSeq DNA:NT_010783, RefSeq Protein:NP_114165, RefSeq RNA:NM_031959, UCSC Genome Browser:NM_031959, UniProtKB:Q9BYR7 No chr17 39155445 39156138 40999193 40999886 +PA38742 85293 HGNC:18890 ENSG00000212899 keratin associated protein 3-3 KRTAP3-3 KAP3.3 Yes No Ensembl:ENSG00000212899, GenAtlas:KRTAP3-3, GeneCard:KRTAP3-3, HGNC:HGNC:18890, NCBI Gene:85293, RefSeq DNA:NT_010783, RefSeq Protein:NP_149441, RefSeq RNA:NM_033185, UCSC Genome Browser:NM_033185, UniProtKB:Q9BYR6 No chr17 39149682 39150385 40993430 40994133 +PA38765 85345 HGNC:18919 ENSG00000226776 keratin associated protein 3-4, pseudogene KRTAP3-4P KAP3A Yes No Ensembl:ENSG00000226776, GenAtlas:KRTAP3P1, GeneCard:KRTAP3-4P, HGNC:HGNC:18919, NCBI Gene:85345, RefSeq DNA:NG_000941, RefSeq DNA:NT_010755 No chr17 39160772 39161011 41004520 41004759 +PA38755 85285 HGNC:18907 ENSG00000198443 keratin associated protein 4-1 KRTAP4-1 KAP4.1, KAP4.10, KRTAP4-10 Yes No Ensembl:ENSG00000198443, GenAtlas:KRTAP4-1, GeneCard:KRTAP4-1, HGNC:HGNC:18907, NCBI Gene:85285, RefSeq DNA:NT_010783, RefSeq Protein:NP_149049, RefSeq RNA:NM_033060, UniProtKB:Q9BYQ7 No chr17 39340352 39341147 41184100 41184895 +PA38759 653240 HGNC:18911 ENSG00000212721 keratin associated protein 4-11 KRTAP4-11 KAP4.11, KAP4.14, KRTAP4-14 Yes No Ensembl:ENSG00000212721, GenAtlas:KRTAP4-11, GeneCard:KRTAP4-11, HGNC:HGNC:18911, ModBase:Q9BYQ6, NCBI Gene:653240, RefSeq DNA:NT_010783, RefSeq Protein:NP_149048, RefSeq RNA:NM_033059, UniProtKB:A8MWY1, UniProtKB:Q9BYQ6 No chr17 39273433 39274606 41117181 41118354 +PA38416 83755 HGNC:16776 ENSG00000213416 keratin associated protein 4-12 KRTAP4-12 KAP4.12 Yes No Ensembl:ENSG00000213416, GenAtlas:KRTAP4-12, GeneCard:KRTAP4-12, HGNC:HGNC:16776, ModBase:Q9BQ66, NCBI Gene:83755, RefSeq DNA:NT_010783, RefSeq Protein:NP_114060, RefSeq RNA:NM_031854, UCSC Genome Browser:NM_031854, UniProtKB:Q9BQ66 No chr17 39279343 39280419 41123091 41124167 +PA166351933 85354 HGNC:18921 keratin associated protein 4-16 KRTAP4-16 KAP4A, KRTAP4-16P, KRTAP4P1 Yes No HGNC:HGNC:18921, NCBI Gene:85354 No 0 0 0 0 +PA38749 85291 HGNC:18900 ENSG00000244537 keratin associated protein 4-2 KRTAP4-2 KAP4.2 Yes No Ensembl:ENSG00000244537, GenAtlas:KRTAP4-2, GeneCard:KRTAP4-2, HGNC:HGNC:18900, ModBase:Q9BYR5, NCBI Gene:85291, RefSeq DNA:NT_010783, RefSeq Protein:NP_149051, RefSeq RNA:NM_033062, UCSC Genome Browser:NM_033062, UniProtKB:Q9BYR5 No chr17 39333698 39334460 41177446 41178208 +PA38756 85290 HGNC:18908 ENSG00000196156 keratin associated protein 4-3 KRTAP4-3 KAP4.3 Yes No Ensembl:ENSG00000196156, GenAtlas:KRTAP4-3, GeneCard:KRTAP4-3, HGNC:HGNC:18908, ModBase:Q9BYR4, NCBI Gene:85290, RefSeq DNA:NT_010783, RefSeq Protein:NP_149443, RefSeq RNA:NM_033187, UniProtKB:Q9BYR4 No chr17 39323483 39324424 41167231 41168172 +PA38426 84616 HGNC:16928 ENSG00000171396 keratin associated protein 4-4 KRTAP4-4 KAP4.13, KAP4.4, KRTAP4-13 Yes No Ensembl:ENSG00000171396, GenAtlas:KRTAP4-4, GeneCard:KRTAP4-4, HGNC:HGNC:16928, HumanCyc Gene:HS10296, ModBase:Q9BYR3, NCBI Gene:84616, RefSeq DNA:NT_010783, RefSeq Protein:NP_115913, RefSeq RNA:NM_032524, UCSC Genome Browser:NM_032524, UniProtKB:Q9BYR3 No chr17 39315905 39316983 41159653 41160731 +PA38748 85289 HGNC:18899 ENSG00000198271 keratin associated protein 4-5 KRTAP4-5 KAP4.5 Yes No Ensembl:ENSG00000198271, GenAtlas:KRTAP4-5, GeneCard:KRTAP4-5, HGNC:HGNC:18899, ModBase:Q9BYR2, NCBI Gene:85289, RefSeq DNA:NT_010783, RefSeq Protein:NP_149445, RefSeq RNA:NM_033188, UCSC Genome Browser:NM_033188, UniProtKB:Q9BYR2 No chr17 39305176 39306054 41148924 41149802 +PA38757 81871 HGNC:18909 ENSG00000198090 keratin associated protein 4-6 KRTAP4-6 KAP4.15, KAP4.6, KRTAP4-15 Yes No Ensembl:ENSG00000198090, GenAtlas:KRTAP4-6, GeneCard:KRTAP4-6, HGNC:HGNC:18909, ModBase:Q9BYQ5, NCBI Gene:81871, RefSeq Protein:NP_112238, RefSeq Protein:XP_942245, RefSeq RNA:NM_030976, RefSeq RNA:XM_937152 No chr17 39295685 39296739 41139433 41140487 +PA38747 100132476 HGNC:18898 ENSG00000240871 keratin associated protein 4-7 KRTAP4-7 KAP4.7 Yes No Comparative Toxicogenomics Database:85287, Ensembl:ENSG00000240871, GenAtlas:KRTAP4-7, GeneCard:KRTAP4-7, HGNC:HGNC:18898, ModBase:Q9BYR0, NCBI Gene:100132476, RefSeq DNA:NT_010783, RefSeq Protein:NP_149050, RefSeq Protein:XP_002343555, RefSeq RNA:NM_033061, RefSeq RNA:XM_002343514, UCSC Genome Browser:NM_033061, UniProtKB:A8MTL4 No chr17 39240459 39241396 41084207 41085144 +PA38442 728224 HGNC:17230 ENSG00000204880, ENSG00000240871 keratin associated protein 4-8 KRTAP4-8 KAP4.8 Yes No Ensembl:ENSG00000204880, Ensembl:ENSG00000240871, GenAtlas:KRTAP4-8, GeneCard:KRTAP4-8, HGNC:HGNC:17230, ModBase:Q9BYQ9, NCBI Gene:728224, RefSeq DNA:NT_010783, RefSeq Protein:NP_114166, RefSeq Protein:XP_002343556, RefSeq Protein:XP_002346275, RefSeq Protein:XP_002346276, RefSeq Protein:XP_002346277, RefSeq Protein:XP_002347789, RefSeq RNA:NM_031960, RefSeq RNA:XM_002343515, RefSeq RNA:XM_002346234, RefSeq RNA:XM_002346235, RefSeq RNA:XM_002346236, RefSeq RNA:XM_002347748, UniProtKB:A8MSH3 No chr17 39253233 39254375 41096981 41098123 +PA38758 100132386 HGNC:18910 ENSG00000212722 keratin associated protein 4-9 KRTAP4-9 KAP4.9 Yes No Ensembl:ENSG00000212722, GenAtlas:KRTAP4-9, GeneCard:KRTAP4-9, HGNC:HGNC:18910, ModBase:Q9BYQ8, NCBI Gene:100132386, RefSeq DNA:NT_010783, RefSeq Protein:NP_001139513, RefSeq Protein:XP_002343594, RefSeq Protein:XP_002347790, RefSeq Protein:XP_002347791, RefSeq RNA:NM_001146041, RefSeq RNA:XM_002343553, RefSeq RNA:XM_002347749, RefSeq RNA:XM_002347750 No chr17 39261641 39262740 41105389 41106488 +PA134874098 387264 HGNC:23596 ENSG00000205869 keratin associated protein 5-1 KRTAP5-1 KRN1L, KRTAP5.1 Yes No Ensembl:ENSG00000205869, GeneCard:KRTAP5-1, HGNC:HGNC:23596, ModBase:Q6L8H4, NCBI Gene:387264, OMIM:148022, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005922, RefSeq RNA:NM_001005922, UniProtKB:Q6L8H4 No chr11 1605572 1606513 1584342 1585283 +PA134898624 387273 HGNC:23605 ENSG00000204572 keratin associated protein 5-10 KRTAP5-10 KRTAP5.10 Yes No Ensembl:ENSG00000204572, GeneCard:KRTAP5-10, HGNC:HGNC:23605, ModBase:Q6L8G5, NCBI Gene:387273, RefSeq DNA:NT_167190, RefSeq Protein:NP_001012728, RefSeq RNA:NM_001012710, UniProtKB:Q6L8G5 No chr11 71276609 71277666 71565563 71566620 +PA134989436 440051 HGNC:23606 ENSG00000204571 keratin associated protein 5-11 KRTAP5-11 KRTAP5-6, KRTAP5.11 Yes No Ensembl:ENSG00000204571, GeneCard:KRTAP5-11, HGNC:HGNC:23606, ModBase:Q6L8G4, NCBI Gene:440051, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005405, RefSeq RNA:NM_001005405, UniProtKB:Q6L8G4 No chr11 71292901 71293921 71581855 71582875 +PA134944937 387275 HGNC:23607 keratin associated protein 5-13, pseudogene KRTAP5-13P KRTAP5.P1 Yes No HGNC:HGNC:23607, NCBI Gene:387275 No chr11 71279598 71280047 71568552 71569001 +PA134937173 387276 HGNC:23608 ENSG00000249387 keratin associated protein 5-14, pseudogene KRTAP5-14P KRTAP5.P2 Yes No Ensembl:ENSG00000249387, HGNC:HGNC:23608, NCBI Gene:387276 No chr11 71290558 71291027 71579512 71579981 +PA134981423 440021 HGNC:23597 ENSG00000205867 keratin associated protein 5-2 KRTAP5-2 KRTAP5-8, KRTAP5.2 Yes No Ensembl:ENSG00000205867, GeneCard:KRTAP5-2, HGNC:HGNC:23597, ModBase:Q701N4, NCBI Gene:440021, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004325, RefSeq RNA:NM_001004325, UniProtKB:Q701N4 No chr11 1618407 1619524 1597177 1598294 +PA134865306 387266 HGNC:23598 ENSG00000196224 keratin associated protein 5-3 KRTAP5-3 KRTAP5-9, KRTAP5.3 Yes No Ensembl:ENSG00000196224, GeneCard:KRTAP5-3, HGNC:HGNC:23598, ModBase:Q6L8H2, NCBI Gene:387266, RefSeq DNA:NT_009237, RefSeq Protein:NP_001012726, RefSeq RNA:NM_001012708, UniProtKB:Q6L8H2 No chr11 1628795 1629693 1607565 1608463 +PA134916197 387267 HGNC:23599 ENSG00000196224, ENSG00000241598 keratin associated protein 5-4 KRTAP5-4 KRTAP5.4 Yes No Ensembl:ENSG00000196224, Ensembl:ENSG00000241598, GeneCard:KRTAP5-4, HGNC:HGNC:23599, ModBase:Q6L8H1, NCBI Gene:387267, RefSeq DNA:NT_009237, RefSeq Protein:NP_001012727, RefSeq RNA:NM_001012709, UniProtKB:Q6L8H1 No chr11 1642188 1643368 97515 98873 +PA134889326 439915 HGNC:23601 ENSG00000185940 keratin associated protein 5-5 KRTAP5-5 KRTAP5-11, KRTAP5.5 Yes No Ensembl:ENSG00000185940, GeneCard:KRTAP5-5, HGNC:HGNC:23601, ModBase:Q701N2, NCBI Gene:439915, RefSeq DNA:NT_009237, RefSeq Protein:NP_001001480, RefSeq RNA:NM_001001480, UniProtKB:Q701N2 No chr11 1651033 1652160 1629803 1630930 +PA134922071 440023 HGNC:23600 ENSG00000205864 keratin associated protein 5-6 KRTAP5-6 KRTAP5.6 Yes No Ensembl:ENSG00000205864, GeneCard:KRTAP5-6, HGNC:HGNC:23600, ModBase:Q6L8G9, NCBI Gene:440023, RefSeq DNA:NT_009237, RefSeq Protein:NP_001012416, RefSeq RNA:NM_001012416, UniProtKB:Q6L8G9 No chr11 1718425 1718985 1697195 1697755 +PA134880610 440050 HGNC:23602 ENSG00000244411 keratin associated protein 5-7 KRTAP5-7 KRTAP5-3, KRTAP5.7 Yes No Ensembl:ENSG00000244411, GeneCard:KRTAP5-7, HGNC:HGNC:23602, ModBase:Q6L8G8, NCBI Gene:440050, RefSeq DNA:NT_167190, RefSeq Protein:NP_001012521, RefSeq RNA:NM_001012503, UniProtKB:Q6L8G8 No chr11 71238313 71239210 71527267 71528164 +PA134954599 57830 HGNC:23603 ENSG00000241233 keratin associated protein 5-8 KRTAP5-8 KRTAP5-2, KRTAP5.8, UHSKerB Yes No Ensembl:ENSG00000241233, GeneCard:KRTAP5-8, HGNC:HGNC:23603, ModBase:O75690, NCBI Gene:57830, RefSeq DNA:NT_167190, RefSeq Protein:NP_066384, RefSeq RNA:NM_021046, UniProtKB:O75690 No chr11 71249071 71250253 71538025 71539207 +PA134946701 3846 HGNC:23604 ENSG00000254997 keratin associated protein 5-9 KRTAP5-9 KRN1, KRTAP5-1, KRTAP5.9 Yes No Ensembl:ENSG00000254997, GeneCard:KRTAP5-9, HGNC:HGNC:23604, ModBase:P26371, NCBI Gene:3846, OMIM:148021, RefSeq DNA:NT_167190, RefSeq Protein:NP_005544, RefSeq RNA:NM_005553, UniProtKB:P26371 No chr11 71259466 71260653 71548420 71549607 +PA134988301 337966 HGNC:18931 ENSG00000184724 keratin associated protein 6-1 KRTAP6-1 C21orf103, KAP6.1 Yes No Comparative Toxicogenomics Database:337966, Ensembl:ENSG00000184724, GeneCard:KRTAP6-1, HGNC:HGNC:18931, ModBase:Q3LI64, NCBI Gene:337966, RefSeq DNA:NT_011512, RefSeq Protein:NP_853633, RefSeq RNA:NM_181602, UniProtKB:Q3LI64 No chr21 31986005 31986223 30613686 30613904 +PA134980095 337967 HGNC:18932 ENSG00000186930 keratin associated protein 6-2 KRTAP6-2 KAP6.2 Yes No Ensembl:ENSG00000186930, GeneCard:KRTAP6-2, HGNC:HGNC:18932, ModBase:Q3LI66, NCBI Gene:337967, RefSeq DNA:NT_011512, RefSeq Protein:NP_853635, RefSeq RNA:NM_181604, UniProtKB:Q3LI66 No chr21 31971005 31971193 30598686 30598874 +PA134866119 337968 HGNC:18933 ENSG00000212938 keratin associated protein 6-3 KRTAP6-3 KAP6.3 Yes No Ensembl:ENSG00000212938, GeneCard:KRTAP6-3, HGNC:HGNC:18933, NCBI Gene:337968, RefSeq DNA:NT_011512, RefSeq Protein:NP_853636, RefSeq RNA:NM_181605 No chr21 31964759 31965374 30592440 30593055 +PA134993282 337878 HGNC:18934 ENSG00000274749 keratin associated protein 7-1 KRTAP7-1 keratin associated protein 7-1 (gene/pseudogene) KAP7.1 Yes No Comparative Toxicogenomics Database:337878, Ensembl:ENSG00000274749, GeneCard:KRTAP7-1, HGNC:HGNC:18934, NCBI Gene:337878, RefSeq DNA:NT_011512, RefSeq Protein:NP_853637, RefSeq RNA:NM_181606, UniProtKB:Q8IUC3 No chr21 32201357 32202051 30829039 30829732 +PA134918132 337879 HGNC:18935 ENSG00000183640 keratin associated protein 8-1 KRTAP8-1 KAP8.1 Yes No Comparative Toxicogenomics Database:337879, Ensembl:ENSG00000183640, GeneCard:KRTAP8-1, HGNC:HGNC:18935, ModBase:Q8IUC2, NCBI Gene:337879, RefSeq DNA:NT_011512, RefSeq Protein:NP_787053, RefSeq RNA:NM_175857, UniProtKB:Q8IUC2 No chr21 32185015 32185570 30812697 30813252 +PA134905337 337980 HGNC:18948 ENSG00000233036 keratin associated protein 8-2, pseudogene KRTAP8-2P KAP8A Yes No Ensembl:ENSG00000233036, HGNC:HGNC:18948, NCBI Gene:337980, RefSeq DNA:NG_002669, RefSeq DNA:NT_011512 No chr21 32174561 32174683 30802243 30802365 +PA134872723 337981 HGNC:18949 ENSG00000227840 keratin associated protein 8-3, pseudogene KRTAP8-3P KAP8B Yes No Ensembl:ENSG00000227840, HGNC:HGNC:18949, NCBI Gene:337981, RefSeq DNA:NG_002670, RefSeq DNA:NT_011512 No chr21 32179308 32179418 30806990 30807100 +PA134939475 728318 HGNC:18912 ENSG00000240542 keratin associated protein 9-1 KRTAP9-1 KAP9.1, KRTAP9L3 Yes No Comparative Toxicogenomics Database:85281, Ensembl:ENSG00000240542, GeneCard:KRTAP9-1, HGNC:HGNC:18912, NCBI Gene:728318, RefSeq DNA:NT_010783, RefSeq Protein:NP_001177389, RefSeq Protein:XP_001714736, RefSeq Protein:XP_001718508, RefSeq Protein:XP_001727038, RefSeq RNA:NM_001190460, RefSeq RNA:XM_001714684, RefSeq RNA:XM_001718456, RefSeq RNA:XM_001726986, UniProtKB:A8MXZ3 No chr17 39346139 39346891 41189887 41190639 +PA38764 85347 HGNC:18918 ENSG00000229351 keratin associated protein 9-11, pseudogene KRTAP9-11P KAP9A Yes No Ensembl:ENSG00000229351, GenAtlas:KRTAP9P1, GeneCard:KRTAP9-11P, HGNC:HGNC:18918, NCBI Gene:85347, RefSeq DNA:NG_000942, RefSeq DNA:NT_010755 No chr17 39427563 39428087 41271311 41271835 +PA38424 83899 HGNC:16926 ENSG00000239886 keratin associated protein 9-2 KRTAP9-2 KAP9.2 Yes No Ensembl:ENSG00000239886, GenAtlas:KRTAP9-2, GeneCard:KRTAP9-2, HGNC:HGNC:16926, ModBase:Q9BYQ4, NCBI Gene:83899, RefSeq DNA:NT_010783, RefSeq Protein:NP_114167, RefSeq RNA:NM_031961, UCSC Genome Browser:NM_031961, UniProtKB:Q6ISF6, UniProtKB:Q9BYQ4 No chr17 39382900 39383904 41226648 41227652 +PA38425 83900 HGNC:16927 ENSG00000204873 keratin associated protein 9-3 KRTAP9-3 KAP9.3 Yes No Ensembl:ENSG00000204873, GenAtlas:KRTAP9-3, GeneCard:KRTAP9-3, HGNC:HGNC:16927, HumanCyc Gene:HS11496, ModBase:Q9BYQ3, NCBI Gene:83900, RefSeq DNA:NT_010783, RefSeq Protein:NP_114168, RefSeq RNA:NM_031962, UCSC Genome Browser:NM_031962, UniProtKB:Q9BYQ3 No chr17 39388715 39389706 41232463 41233454 +PA38750 85280 HGNC:18902 ENSG00000241595 keratin associated protein 9-4 KRTAP9-4 KAP9.4 Yes No Ensembl:ENSG00000241595, GenAtlas:KRTAP9-4, GeneCard:KRTAP9-4, HGNC:HGNC:18902, ModBase:Q9BYQ2, NCBI Gene:85280, RefSeq DNA:NT_010783, RefSeq Protein:NP_149461, RefSeq RNA:NM_033191, UCSC Genome Browser:NM_033191, UniProtKB:Q9BYQ2 No chr17 39405939 39406905 41249687 41250653 +PA38761 100507608 HGNC:18914 ENSG00000212659 keratin associated protein 9-6 KRTAP9-6 KAP9.6, KRTAP9L2 Yes No Ensembl:ENSG00000212659, GenAtlas:KRTAP9-6, GeneCard:KRTAP9-6, HGNC:HGNC:18914, NCBI Gene:100507608 No chr17 39421630 39422112 41265378 41265860 +PA38762 100505724 HGNC:18915 ENSG00000180386 keratin associated protein 9-7 KRTAP9-7 KAP9.7, KRTAP9L1 Yes No Ensembl:ENSG00000180386, GenAtlas:KRTAP9-7, GeneCard:KRTAP9-7, HGNC:HGNC:18915, NCBI Gene:100505724 No chr17 39431950 39432459 41275698 41276207 +PA38443 83901 HGNC:17231 ENSG00000187272 keratin associated protein 9-8 KRTAP9-8 KAP9.8 Yes No Ensembl:ENSG00000187272, GenAtlas:KRTAP9-8, GeneCard:KRTAP9-8, HGNC:HGNC:17231, HumanCyc Gene:HS13396, ModBase:Q9BYQ0, NCBI Gene:83901, RefSeq DNA:NT_010783, RefSeq Protein:NP_114169, RefSeq RNA:NM_031963, UCSC Genome Browser:NM_031963, UniProtKB:Q9BYQ0 No chr17 39394270 39395256 41238018 41239004 +PA38413 81870 HGNC:16773 ENSG00000198083 keratin associated protein 9-9 KRTAP9-9 KAP9.5, KAP9.9, KRTAP9-5 Yes No Ensembl:ENSG00000198083, GenAtlas:KRTAP9-9, GeneCard:KRTAP9-9, HGNC:HGNC:16773, HumanCyc Gene:HS13397, ModBase:Q9BYP9, NCBI Gene:81870, RefSeq DNA:NT_010783, RefSeq Protein:NP_112237, RefSeq RNA:NM_030975, UCSC Genome Browser:NM_030975, UniProtKB:B5MDD6 No chr17 39411636 39412616 41255384 41256364 +PA134967679 200185 HGNC:28942 ENSG00000163463 keratinocyte associated protein 2 KRTCAP2 KCP2 Yes No Comparative Toxicogenomics Database:200185, Ensembl:ENSG00000163463, GeneCard:KRTCAP2, HGNC:HGNC:28942, HumanCyc Gene:HS15065, ModBase:Q8N6L1, NCBI Gene:200185, RefSeq DNA:NT_004487, RefSeq Protein:NP_776251, RefSeq RNA:NM_173852, UniProtKB:Q8N6L1 No chr1 155141884 155151331 155169408 155173328 +PA134974952 200634 HGNC:28943 ENSG00000157992 keratinocyte associated protein 3 KRTCAP3 KCP3 Yes No Comparative Toxicogenomics Database:200634, Ensembl:ENSG00000157992, GeneCard:KRTCAP3, HGNC:HGNC:28943, HumanCyc Gene:HS14688, NCBI Gene:200634, RefSeq DNA:NT_022184, RefSeq Protein:NP_001161836, RefSeq Protein:NP_776252, RefSeq RNA:NM_001168364, RefSeq RNA:NM_173853, UniProtKB:Q53RY4 No chr2 27665233 27669348 27442366 27446481 +PA30236 388533 HGNC:16313 ENSG00000188508 keratinocyte differentiation associated protein KRTDAP keratinocyte differentiation-associated protein KDAP, UNQ467 Yes No Ensembl:ENSG00000188508, GenAtlas:KRTDAP, GeneCard:KRTDAP, HGNC:HGNC:16313, NCBI Gene:388533, RefSeq DNA:NT_011109, RefSeq Protein:NP_997275, RefSeq RNA:NM_207392, UniProtKB:P60985 No chr19 35978226 35981433 35487324 35490531 +PA30254 8844 HGNC:6465 ENSG00000141068 kinase suppressor of ras 1 KSR1 KSR, RSU2 Yes No Comparative Toxicogenomics Database:8844, Ensembl:ENSG00000141068, GenAtlas:KSR1, GeneCard:KSR1, HGNC:HGNC:6465, HumanCyc Gene:HS06797, ModBase:Q8IVT5, NCBI Gene:8844, OMIM:601132, RefSeq DNA:NT_010799, RefSeq Protein:NP_055053, RefSeq RNA:NM_014238, UniProtKB:A8MY87, UniProtKB:Q8IVT5 No chr17 25799036 25950718 27456441 27626438 +PA134914125 283455 HGNC:18610 ENSG00000171435 kinase suppressor of ras 2 KSR2 FLJ25965 Yes No Ensembl:ENSG00000171435, GeneCard:KSR2, HGNC:HGNC:18610, HumanCyc Gene:HS10303, NCBI Gene:283455, OMIM:610737, RefSeq DNA:NT_009775, RefSeq Protein:NP_775869, RefSeq RNA:NM_173598, UniProtKB:Q6VAB6 No chr12 117890817 118406399 117453012 117968558 +PA142671571 112970 HGNC:25160 ENSG00000198841 KTI12 chromatin associated homolog KTI12 KTI12 homolog, chromatin associated (S. cerevisiae) MGC20419, SBBI81, TOT4 Yes No Comparative Toxicogenomics Database:112970, Ensembl:ENSG00000198841, GeneCard:KTI12, HGNC:HGNC:25160, ModBase:Q96EK9, NCBI Gene:112970, RefSeq DNA:NT_032977, RefSeq Protein:NP_612426, RefSeq RNA:NM_138417, UniProtKB:Q96EK9 No chr1 52497777 52499472 52032105 52033800 +PA30256 3895 HGNC:6467 ENSG00000126777 kinectin 1 KTN1 kinectin 1 (kinesin receptor) CG1, KIAA0004, KNT Yes No Comparative Toxicogenomics Database:3895, Ensembl:ENSG00000126777, GenAtlas:KTN1, GeneCard:KTN1, HGNC:HGNC:6467, HumanCyc Gene:HS05047, ModBase:Q86UP2, NCBI Gene:3895, OMIM:600381, RefSeq DNA:NT_026437, RefSeq Protein:NP_001072989, RefSeq Protein:NP_001072990, RefSeq Protein:NP_004977, RefSeq Protein:NP_891556, RefSeq RNA:NM_001079521, RefSeq RNA:NM_001079522, RefSeq RNA:NM_004986, RefSeq RNA:NM_182926, UCSC Genome Browser:NM_004986, UniProtKB:Q17RZ5, UniProtKB:Q5GGW3, UniProtKB:Q86UP2 No chr14 56046925 56151302 55580207 55684584 +PA134921521 100129075 HGNC:19842 ENSG00000186615 KTN1 antisense RNA 1 KTN1-AS1 Yes No Ensembl:ENSG00000186615, GeneCard:KTN1-AS1, HGNC:HGNC:19842, NCBI Gene:100129075, RefSeq DNA:NT_026437, RefSeq RNA:NR_027123 No chr14 56027807 56046810 55576157 55580092 +PA147358357 79036 HGNC:28420 ENSG00000105700 KxDL motif containing 1 KXD1 BLOC-1 related complex subunit 4 BORCS4, C19orf50, FLJ25480, KXDL, MGC2749 Yes No Ensembl:ENSG00000105700, GeneCard:C19orf50, HGNC:HGNC:28420, HumanCyc Gene:HS12602, NCBI Gene:79036, RefSeq DNA:NT_011295, RefSeq Protein:NP_001165419, RefSeq Protein:NP_001165420, RefSeq Protein:NP_076974, RefSeq RNA:NM_001171948, RefSeq RNA:NM_001171949, RefSeq RNA:NM_024069, UniProtKB:Q9BQD3 No chr19 18668572 18680197 18557762 18569387 +PA134878738 339855 HGNC:26576 ENSG00000174611 kyphoscoliosis peptidase KY FLJ33207 Yes No Ensembl:ENSG00000174611, GeneCard:KY, HGNC:HGNC:26576, ModBase:Q8NBH2, NCBI Gene:339855, OMIM:605739, RefSeq DNA:NT_005612, RefSeq Protein:NP_848649, RefSeq RNA:NM_178554, UniProtKB:Q8NBH2 No chr3 134318765 134370522 134599923 134656053 +PA26138 883 HGNC:1564 ENSG00000171097 kynurenine aminotransferase 1 KYAT1 """Glutamine--phenylpyruvate transaminase"", ""cysteine conjugate-beta lyase, cytoplasmic"", ""glutamine transaminase K"", ""kyneurenine aminotransferase"", ""kynurenine aminotransferase I""" CCBL1, GTK, KATI Yes No Comparative Toxicogenomics Database:883, Ensembl:ENSG00000171097, GenAtlas:CCBL1, GeneCard:CCBL1, HGNC:HGNC:1564, HumanCyc Gene:HS10240, ModBase:Q16773, NCBI Gene:883, OMIM:600547, RefSeq DNA:NT_008470, RefSeq Protein:NP_001116143, RefSeq Protein:NP_001116144, RefSeq Protein:NP_004050, RefSeq RNA:NM_001122671, RefSeq RNA:NM_001122672, RefSeq RNA:NM_004059, UCSC Genome Browser:NM_004059, UniProtKB:A8K563, UniProtKB:Q16773 No chr9 131595392 131644354 128832942 128882551 +PA162381274 56267 HGNC:33238 ENSG00000137944 kynurenine aminotransferase 3 KYAT3 cysteine conjugate-beta lyase 2, kynurenine--oxoglutarate transaminase 3 CCBL2, KAT3, KATIII, RBM1, RP11-82K18.3 Yes No Ensembl:ENSG00000137944, GeneCard:CCBL2, HGNC:HGNC:33238, HumanCyc Gene:HS06422, ModBase:Q6YP21, NCBI Gene:56267, OMIM:610656, RefSeq Protein:NP_001008661, RefSeq Protein:NP_001008662, RefSeq RNA:NM_001008661, RefSeq RNA:NM_001008662, UniProtKB:B3KQ13, UniProtKB:B4DW13, UniProtKB:Q6YP21 No chr1 89401456 89458643 88935773 88992960 +PA30258 8942 HGNC:6469 ENSG00000115919 kynureninase KYNU L-kynurenine hydrolase Yes Yes Comparative Toxicogenomics Database:8942, Ensembl:ENSG00000115919, GenAtlas:KYNU, GeneCard:KYNU, HGNC:HGNC:6469, HumanCyc Gene:HS03952, ModBase:Q16719, NCBI Gene:8942, OMIM:236800, OMIM:605197, RefSeq DNA:NG_023254, RefSeq DNA:NT_022135, RefSeq Protein:NP_001028170, RefSeq Protein:NP_001186170, RefSeq Protein:NP_003928, RefSeq RNA:NM_001032998, RefSeq RNA:NM_001199241, RefSeq RNA:NM_003937, UCSC Genome Browser:NM_003937, UniProtKB:Q16719, UniProtKB:Q9BVW3 No chr2 143506497 143799885 142877626 143042316 +PA30259 3897 HGNC:6470 ENSG00000198910 L1 cell adhesion molecule L1CAM neural cell adhesion molecule L1 CAML1, CD171, HSAS, HSAS1, MASA, MIC5, NCAM-L1, S10, SPG1 Yes No Comparative Toxicogenomics Database:3897, Ensembl:ENSG00000198910, GenAtlas:L1CAM, GeneCard:L1CAM, HGNC:HGNC:6470, ModBase:P32004, NCBI Gene:3897, OMIM:142623, OMIM:303350, OMIM:304100, OMIM:307000, OMIM:308840, RefSeq DNA:NG_009645, RefSeq DNA:NT_167198, RefSeq Protein:NP_000416, RefSeq Protein:NP_001137435, RefSeq Protein:NP_076493, RefSeq RNA:NM_000425, RefSeq RNA:NM_001143963, RefSeq RNA:NM_024003, UCSC Genome Browser:NM_000425, UniProtKB:A4ZYW4, UniProtKB:P32004 No chrX 153126969 153151628 153861514 153886174 +PA145008170 54596 HGNC:25595 ENSG00000240563 LINE1 type transposase domain containing 1 L1TD1 LINE-1 type transposase domain containing 1 ECAT11, FLJ10884 Yes No Ensembl:ENSG00000240563, GeneCard:L1TD1, HGNC:HGNC:25595, ModBase:Q5T7N2, NCBI Gene:54596, RefSeq DNA:NT_032977, RefSeq Protein:NP_001158307, RefSeq Protein:NP_061952, RefSeq RNA:NM_001164835, RefSeq RNA:NM_019079, UniProtKB:Q5T7N2 No chr1 62660474 62678000 62194802 62212328 +PA134971279 79944 HGNC:20499 ENSG00000087299 L-2-hydroxyglutarate dehydrogenase L2HGDH 2-hydroxyglutarate dehydrogenase C14orf160, FLJ12618 Yes No Comparative Toxicogenomics Database:79944, Ensembl:ENSG00000087299, GeneCard:L2HGDH, HGNC:HGNC:20499, HumanCyc Gene:HS12294, ModBase:Q9H9P8, NCBI Gene:79944, OMIM:236792, OMIM:609584, RefSeq DNA:NG_008092, RefSeq DNA:NT_026437, RefSeq Protein:NP_079160, RefSeq RNA:NM_024884, UniProtKB:Q9H9P8 No chr14 50704285 50778947 50242434 50312235 +PA134961537 112849 HGNC:20488 ENSG00000126790 trans-L-3-hydroxyproline dehydratase L3HYPDH L-3-hydroxyproline dehydratase (trans-), trans-L-3-hydroxyproline dehydratase C14orf149, FLJ25436 Yes No Comparative Toxicogenomics Database:112849, Ensembl:ENSG00000126790, GeneCard:C14orf149, HGNC:HGNC:20488, HumanCyc Gene:HS13217, ModBase:Q96EM0, NCBI Gene:112849, RefSeq DNA:NT_026437, RefSeq Protein:NP_653182, RefSeq RNA:NM_144581, UniProtKB:Q96EM0 No chr14 59925698 59951281 59465545 59484438 +PA30260 26013 HGNC:15905 ENSG00000185513 L3MBTL histone methyl-lysine binding protein 1 L3MBTL1 """L3MBTL1, histone methyl-lysine binding protein"", ""l(3)mbt-like 1 (Drosophila)"", ""lethal (3) malignant brain tumor l(3)""" DKFZp586P1522, KIAA0681, L3MBTL, ZC2HC3, dJ138B7.3 Yes No Ensembl:ENSG00000185513, GenAtlas:L3MBTL, GeneCard:L3MBTL, HGNC:HGNC:15905, ModBase:Q9Y468, NCBI Gene:26013, OMIM:608802, RefSeq DNA:NG_009238, RefSeq DNA:NT_011362, RefSeq Protein:NP_056293, RefSeq Protein:NP_115479, RefSeq RNA:NM_015478, RefSeq RNA:NM_032107, UCSC Genome Browser:NM_015478, UniProtKB:Q9Y468 No chr20 42136320 42179590 43507680 43541895 +PA38356 83746 HGNC:18594 ENSG00000100395 L3MBTL histone methyl-lysine binding protein 2 L3MBTL2 """L3MBTL2, polycomb repressive complex 1 subunit"", ""l(3)mbt-like 2 (Drosophila)""" DKFZP761I141, H-l(3)mbt-l, dJ756G23.3 Yes No Comparative Toxicogenomics Database:83746, Ensembl:ENSG00000100395, GenAtlas:L3MBTL2, GeneCard:L3MBTL2, HGNC:HGNC:18594, HumanCyc Gene:HS02072, ModBase:Q969R5, NCBI Gene:83746, OMIM:611865, RefSeq DNA:NT_011520, RefSeq Protein:NP_113676, RefSeq RNA:NM_031488, UCSC Genome Browser:NM_031488, UniProtKB:Q969R5 No chr22 41601312 41627276 41205192 41231271 +PA134943930 84456 HGNC:23035 ENSG00000198945 L3MBTL histone methyl-lysine binding protein 3 L3MBTL3 """L3MBTL3, histone methyl-lysine binding protein"", ""l(3)mbt-like 3 (Drosophila)""" KIAA1798 Yes No Comparative Toxicogenomics Database:84456, Ensembl:ENSG00000198945, GeneCard:L3MBTL3, HGNC:HGNC:23035, ModBase:Q96JM7, NCBI Gene:84456, RefSeq DNA:NT_025741, RefSeq Protein:NP_001007103, RefSeq Protein:NP_115814, RefSeq RNA:NM_001007102, RefSeq RNA:NM_032438, UniProtKB:Q96JM7 No chr6 130339728 130462594 130018583 130141449 +PA134935795 91133 HGNC:26677 ENSG00000154655 L3MBTL histone methyl-lysine binding protein 4 L3MBTL4 """L3MBTL4, histone methyl-lysine binding protein"", ""l(3)mbt-like 4 (Drosophila)""" FLJ35936, HsT1031 Yes No Comparative Toxicogenomics Database:91133, Ensembl:ENSG00000154655, GeneCard:L3MBTL4, HGNC:HGNC:26677, HumanCyc Gene:HS14531, ModBase:Q8NA19, NCBI Gene:91133, RefSeq DNA:NT_010859, RefSeq Protein:NP_775735, RefSeq RNA:NM_173464, UniProtKB:Q8NA19 No chr18 5954705 6414910 5954703 6414911 +PA147358522 144811 HGNC:26789 ENSG00000179630 laccase domain containing 1 LACC1 fatty acid metabolism–immunity nexus, fatty acid metabolism–immunity nexus, isocyanic acid synthase, laccase (multicopper oxidoreductase) domain containing 1 C13orf31, FAMIN, FLJ38725 Yes No Comparative Toxicogenomics Database:144811, Ensembl:ENSG00000179630, GeneCard:C13orf31, HGNC:HGNC:26789, HumanCyc Gene:HS11402, ModBase:Q8IV20, NCBI Gene:144811, OMIM:613409, RefSeq DNA:NT_024524, RefSeq Protein:NP_001121775, RefSeq Protein:NP_694950, RefSeq RNA:NM_001128303, RefSeq RNA:NM_153218, UniProtKB:Q7Z395, UniProtKB:Q8IV20 No chr13 44453420 44468068 43878834 43893932 +PA30261 90070 HGNC:16430 ENSG00000135413 lacritin LACRT LACRITIN Yes No Ensembl:ENSG00000135413, GenAtlas:LACRT, GeneCard:LACRT, HGNC:HGNC:16430, HumanCyc Gene:HS13579, NCBI Gene:90070, OMIM:607360, RefSeq DNA:NT_029419, RefSeq Protein:NP_150593, RefSeq RNA:NM_033277, UCSC Genome Browser:NM_033277, UniProtKB:Q9GZZ8 No chr12 55024623 55028663 54630839 54634879 +PA30262 114294 HGNC:16468 ENSG00000103642 lactamase beta LACTB """lactamase, beta"", ""serine beta-lactamase-like protein, mitochondrial""" FLJ14902, MRPL56 Yes No Comparative Toxicogenomics Database:114294, Ensembl:ENSG00000103642, GenAtlas:LACTB, GeneCard:LACTB, HGNC:HGNC:16468, HumanCyc Gene:HS02524, ModBase:P83111, NCBI Gene:114294, OMIM:608440, RefSeq DNA:NT_010194, RefSeq Protein:NP_116246, RefSeq Protein:NP_741982, RefSeq RNA:NM_032857, RefSeq RNA:NM_171846, UCSC Genome Browser:NM_032857, UniProtKB:P83111 No chr15 63413999 63434260 63121800 63142065 +PA134952605 51110 HGNC:18512 ENSG00000147592 lactamase beta 2 LACTB2 lactamase, beta 2 CGI-83 Yes No Comparative Toxicogenomics Database:51110, Ensembl:ENSG00000147592, GeneCard:LACTB2, HGNC:HGNC:18512, HumanCyc Gene:HS14211, ModBase:Q53H82, NCBI Gene:51110, RefSeq DNA:NT_008183, RefSeq Protein:NP_057111, RefSeq RNA:NM_016027, UniProtKB:Q53H82 No chr8 71549501 71581447 70637266 70669212 +PA165751480 646262 HGNC:35445 ENSG00000215906 lactamase beta like 1 LACTBL1 lactamase, beta-like 1 Yes No Ensembl:ENSG00000215906, GeneCard:LACTBL1, HGNC:HGNC:35445, NCBI Gene:646262, RefSeq DNA:NT_004610, RefSeq Protein:XP_001130038, RefSeq Protein:XP_001715076, RefSeq Protein:XP_002342076, RefSeq RNA:XM_001130038, RefSeq RNA:XM_001715024, RefSeq RNA:XM_002342035 No chr1 23279536 23299524 22953043 22972316 +PA30263 3898 HGNC:6472 ENSG00000159166 ladinin 1 LAD1 Yes No Comparative Toxicogenomics Database:3898, Ensembl:ENSG00000159166, GenAtlas:LAD1, GeneCard:LAD1, HGNC:HGNC:6472, HumanCyc Gene:HS08362, ModBase:O00515, NCBI Gene:3898, OMIM:602314, RefSeq DNA:NT_004487, RefSeq Protein:NP_005549, RefSeq RNA:NM_005558, UCSC Genome Browser:NM_005558, UniProtKB:O00515 No chr1 201349966 201368669 201380838 201399541 +PA30265 3902 HGNC:6476 ENSG00000089692 lymphocyte activating 3 LAG3 lymphocyte-activation gene 3 CD223 Yes No Ensembl:ENSG00000089692, GenAtlas:LAG3, GeneCard:LAG3, HGNC:HGNC:6476, HumanCyc Gene:HS01662, ModBase:P18627, NCBI Gene:3902, OMIM:153337, RefSeq DNA:NT_009759, RefSeq Protein:NP_002277, RefSeq RNA:NM_002286, UCSC Genome Browser:NM_002286, UniProtKB:P18627 No chr12 6881670 6887621 6772483 6778455 +PA128394540 8270 HGNC:26058 ENSG00000196976 L antigen family member 3 LAGE3 """DNA segment on chromosome X (unique) 9879 expressed sequence"", ""L antigen family, member 3""" CVG5, DXS9879E, DXS9951E, ESO3, ITBA2, Pcc1 Yes No Comparative Toxicogenomics Database:8270, Ensembl:ENSG00000196976, GenAtlas:LAGE3, GeneCard:LAGE3, HGNC:HGNC:26058, ModBase:Q14657, NCBI Gene:8270, OMIM:300060, RefSeq DNA:NT_167198, RefSeq Protein:NP_006005, RefSeq RNA:NM_006014, UCSC Genome Browser:NM_006014, UniProtKB:Q14657 No chrX 153705241 153707596 154477769 154479257 +PA30266 3903 HGNC:6477 ENSG00000167613 leukocyte associated immunoglobulin like receptor 1 LAIR1 leukocyte-associated immunoglobulin-like receptor 1 CD305, LAIR-1 Yes No Comparative Toxicogenomics Database:3903, Ensembl:ENSG00000167613, GenAtlas:LAIR1, GeneCard:LAIR1, HGNC:HGNC:6477, HumanCyc Gene:HS09590, ModBase:Q6GTX8, NCBI Gene:3903, OMIM:602992, RefSeq DNA:NT_011109, RefSeq Protein:NP_002278, RefSeq Protein:NP_068352, RefSeq RNA:NM_002287, RefSeq RNA:NM_021706, UCSC Genome Browser:NM_002287, UniProtKB:Q6GTX8 No chr19 54865235 54882241 54353624 54370556 +PA30267 3904 HGNC:6478 ENSG00000167618 leukocyte associated immunoglobulin like receptor 2 LAIR2 leukocyte-associated immunoglobulin-like receptor 2 CD306, LAIR-2 Yes No Ensembl:ENSG00000167618, GenAtlas:LAIR2, GeneCard:LAIR2, HGNC:HGNC:6478, HumanCyc Gene:HS15576, ModBase:Q6ISS4, NCBI Gene:3904, OMIM:602993, RefSeq DNA:NT_011109, RefSeq Protein:NP_002279, RefSeq Protein:NP_067154, RefSeq RNA:NM_002288, RefSeq RNA:NM_021270, UCSC Genome Browser:NM_002288, UniProtKB:Q6ISS4 No chr19 55014013 55021900 54502797 54510693 +PA30269 3906 HGNC:6480 ENSG00000167531 lactalbumin alpha LALBA """lactalbumin, alpha-"", ""lactose synthase B"", ""lysozyme G""" HAMLET, LYZG, LYZL7 Yes No Comparative Toxicogenomics Database:3906, Ensembl:ENSG00000167531, GenAtlas:LALBA, GeneCard:LALBA, HGNC:HGNC:6480, HumanCyc Gene:HS09571, ModBase:P00709, NCBI Gene:3906, OMIM:149750, RefSeq DNA:NT_029419, RefSeq Protein:NP_002280, RefSeq RNA:NM_002289, UCSC Genome Browser:NM_002289, UniProtKB:P00709 No chr12 48961467 48963829 48567684 48571822 +PA30270 284217 HGNC:6481 ENSG00000101680 laminin subunit alpha 1 LAMA1 laminin, alpha 1 LAMA Yes No Comparative Toxicogenomics Database:284217, Ensembl:ENSG00000101680, GenAtlas:LAMA1, GeneCard:LAMA1, HGNC:HGNC:6481, ModBase:P25391, NCBI Gene:284217, OMIM:150320, RefSeq DNA:NT_010859, RefSeq Protein:NP_005550, RefSeq RNA:NM_005559, UCSC Genome Browser:NM_005559, UniProtKB:P25391, UniProtKB:Q7Z5W6 No chr18 6941743 7117813 6941744 7117814 +PA30271 3908 HGNC:6482 ENSG00000196569 laminin subunit alpha 2 LAMA2 """congenital muscular dystrophy"", ""laminin, alpha 2"", ""merosin""" LAMM Yes No Comparative Toxicogenomics Database:3908, Ensembl:ENSG00000196569, GenAtlas:LAMA2, GeneCard:LAMA2, HGNC:HGNC:6482, ModBase:P24043, NCBI Gene:3908, OMIM:156225, OMIM:607855, RefSeq DNA:NG_008678, RefSeq DNA:NT_025741, RefSeq Protein:NP_000417, RefSeq Protein:NP_001073291, RefSeq RNA:NM_000426, RefSeq RNA:NM_001079823, UCSC Genome Browser:NM_000426, UniProtKB:P24043, UniProtKB:Q59H37 No chr6 129204286 129837711 128883141 129516566 +PA30272 3909 HGNC:6483 ENSG00000053747 laminin subunit alpha 3 LAMA3 laminin, alpha 3 BM600-150kDa, LAMNA, epiligrin, kalinin-165kDa, nicein-150kDa Yes No Comparative Toxicogenomics Database:3909, Ensembl:ENSG00000053747, GenAtlas:LAMA3, GeneCard:LAMA3, HGNC:HGNC:6483, HumanCyc Gene:HS00660, ModBase:Q16787, NCBI Gene:3909, OMIM:226650, OMIM:226700, OMIM:245660, OMIM:600805, RefSeq DNA:NG_007853, RefSeq DNA:NT_010966, RefSeq Protein:NP_000218, RefSeq Protein:NP_001121189, RefSeq Protein:NP_001121190, RefSeq Protein:NP_937762, RefSeq RNA:NM_000227, RefSeq RNA:NM_001127717, RefSeq RNA:NM_001127718, RefSeq RNA:NM_198129, UCSC Genome Browser:NM_000227, UniProtKB:B0YJ33, UniProtKB:Q16787, UniProtKB:Q6VU67, UniProtKB:Q6VU69 No chr18 21269562 21535030 23689443 23955066 +PA30273 3910 HGNC:6484 ENSG00000112769 laminin subunit alpha 4 LAMA4 laminin, alpha 4 LAMA3 Yes No Comparative Toxicogenomics Database:3910, Ensembl:ENSG00000112769, GenAtlas:LAMA4, GeneCard:LAMA4, HGNC:HGNC:6484, HumanCyc Gene:HS03619, ModBase:Q16363, NCBI Gene:3910, OMIM:600133, RefSeq DNA:NG_008209, RefSeq DNA:NT_025741, RefSeq Protein:NP_001098676, RefSeq Protein:NP_001098677, RefSeq Protein:NP_001098678, RefSeq Protein:NP_001098679, RefSeq Protein:NP_002281, RefSeq RNA:NM_001105206, RefSeq RNA:NM_001105207, RefSeq RNA:NM_001105208, RefSeq RNA:NM_001105209, RefSeq RNA:NM_002290, UCSC Genome Browser:NM_002290, UniProtKB:Q16363, UniProtKB:Q5D044 No chr6 112429134 112575924 112107931 112254722 +PA30274 3911 HGNC:6485 ENSG00000130702 laminin subunit alpha 5 LAMA5 """laminin alpha5-chain"", ""laminin, alpha 5""" Yes No Comparative Toxicogenomics Database:3911, Ensembl:ENSG00000130702, GenAtlas:LAMA5, GeneCard:LAMA5, HGNC:HGNC:6485, HumanCyc Gene:HS05422, NCBI Gene:3911, OMIM:601033, RefSeq DNA:NT_011362, RefSeq Protein:NP_005551, RefSeq RNA:NM_005560, UCSC Genome Browser:NM_005560, UniProtKB:O15230 No chr20 60884116 60942368 62309060 62367318 +PA30275 3912 HGNC:6486 ENSG00000091136 laminin subunit beta 1 LAMB1 laminin, beta 1 CLM Yes No Comparative Toxicogenomics Database:3912, Ensembl:ENSG00000091136, GenAtlas:LAMB1, GeneCard:LAMB1, HGNC:HGNC:6486, HumanCyc Gene:HS01724, ModBase:P07942, NCBI Gene:3912, OMIM:150240, RefSeq DNA:NG_023255, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_002282, RefSeq RNA:NM_002291, UCSC Genome Browser:NM_002291, UniProtKB:P07942, UniProtKB:Q8TAS6 No chr7 107564244 107643804 107923799 108003359 +PA164741827 3913 HGNC:6487 ENSG00000172037 laminin subunit beta 2 LAMB2 """laminin S"", ""laminin, beta 2 (laminin S)""" LAMS, NPHS5 Yes No Ensembl:ENSG00000172037, GeneCard:LAMB2, HGNC:HGNC:6487, HumanCyc Gene:HS10438, ModBase:P55268, NCBI Gene:3913, OMIM:150325, OMIM:609049, RefSeq DNA:NG_008094, RefSeq DNA:NT_022517, RefSeq Protein:NP_002283, RefSeq RNA:NM_002292, UniProtKB:P55268 No chr3 49158547 49170599 49121114 49133166 +PA30277 22973 HGNC:6488 ENSG00000270441 laminin, beta 2 pseudogene 1 LAMB2P1 Yes No Ensembl:ENSG00000270441, GenAtlas:LAMB2L, GeneCard:LAMB2P1, HGNC:HGNC:6488, NCBI Gene:22973, RefSeq DNA:NT_022517, RefSeq RNA:NR_004405 No chr3 49190292 49191834 49152859 49154401 +PA30278 3914 HGNC:6490 ENSG00000196878 laminin subunit beta 3 LAMB3 laminin, beta 3 BM600-125kDa, LAMNB1, kalinin-140kDa, nicein-125kDa Yes Yes Comparative Toxicogenomics Database:3914, Ensembl:ENSG00000196878, GenAtlas:LAMB3, GeneCard:LAMB3, HGNC:HGNC:6490, ModBase:Q13751, NCBI Gene:3914, OMIM:150310, OMIM:226650, OMIM:226700, RefSeq DNA:NG_007116, RefSeq DNA:NT_167186, RefSeq Protein:NP_000219, RefSeq Protein:NP_001017402, RefSeq Protein:NP_001121113, RefSeq RNA:NM_000228, RefSeq RNA:NM_001017402, RefSeq RNA:NM_001127641, UCSC Genome Browser:NM_000228, UniProtKB:Q13751 No chr1 209788215 209825820 209614870 209653077 +PA30279 22798 HGNC:6491 ENSG00000091128 laminin subunit beta 4 LAMB4 laminin, beta 4 Yes No Comparative Toxicogenomics Database:22798, Ensembl:ENSG00000091128, GenAtlas:LAMB4, GeneCard:LAMB4, HGNC:HGNC:6491, HumanCyc Gene:HS01722, ModBase:A4D0S4, NCBI Gene:22798, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_031382, RefSeq RNA:NM_007356, UniProtKB:A4D0S4 No chr7 107663996 107770801 108011662 108130356 +PA30280 3915 HGNC:6492 ENSG00000135862 laminin subunit gamma 1 LAMC1 """Laminin B2 chain"", ""laminin, gamma 1 (formerly LAMB2)""" LAMB2 Yes No Comparative Toxicogenomics Database:3915, Ensembl:ENSG00000135862, GenAtlas:LAMC1, GeneCard:LAMC1, HGNC:HGNC:6492, HumanCyc Gene:HS06074, ModBase:P11047, NCBI Gene:3915, OMIM:150290, OMIM:176780, RefSeq DNA:NG_011463, RefSeq DNA:NT_004487, RefSeq Protein:NP_002284, RefSeq RNA:NM_002293, UCSC Genome Browser:NM_002293, UniProtKB:P11047, UniProtKB:Q6NVY8 No chr1 182992572 183114727 183023460 183145592 +PA30281 3918 HGNC:6493 ENSG00000058085 laminin subunit gamma 2 LAMC2 laminin, gamma 2 BM600-100kDa, EBR2, EBR2A, LAMB2T, LAMNB2, kalinin-105kDa, nicein-100kDa Yes No Comparative Toxicogenomics Database:3918, Ensembl:ENSG00000058085, GenAtlas:LAMC2, GeneCard:LAMC2, HGNC:HGNC:6493, HumanCyc Gene:HS00717, ModBase:Q13753, NCBI Gene:3918, OMIM:150292, OMIM:226650, OMIM:226700, RefSeq DNA:NG_007079, RefSeq DNA:NT_004487, RefSeq Protein:NP_005553, RefSeq Protein:NP_061486, RefSeq RNA:NM_005562, RefSeq RNA:NM_018891, UCSC Genome Browser:NM_005562, UniProtKB:Q13753 No chr1 183147952 183214262 183186039 183245127 +PA30282 10319 HGNC:6494 ENSG00000050555 laminin subunit gamma 3 LAMC3 laminin, gamma 3 DKFZp434E202 Yes No Comparative Toxicogenomics Database:10319, Ensembl:ENSG00000050555, GenAtlas:LAMC3, GeneCard:LAMC3, HGNC:HGNC:6494, HumanCyc Gene:HS00635, ModBase:Q9Y6N6, NCBI Gene:10319, OMIM:604349, RefSeq DNA:NT_035014, RefSeq Protein:NP_006050, RefSeq RNA:NM_006059, UCSC Genome Browser:NM_006059, UniProtKB:B1APY0, UniProtKB:Q59H72, UniProtKB:Q8N2D6, UniProtKB:Q9Y6N6 No chr9 133884504 133968446 131009117 131093059 +PA30283 3916 HGNC:6499 ENSG00000185896 lysosomal associated membrane protein 1 LAMP1 lysosomal-associated membrane protein 1 CD107a Yes No Comparative Toxicogenomics Database:3916, Ensembl:ENSG00000185896, GenAtlas:LAMP1, GeneCard:LAMP1, HGNC:HGNC:6499, ModBase:P11279, NCBI Gene:3916, OMIM:153330, RefSeq DNA:NT_027140, RefSeq Protein:NP_005552, RefSeq RNA:NM_005561, UCSC Genome Browser:NM_005561, UniProtKB:P11279 No chr13 113951436 113977746 113297154 113323431 +PA30284 100421198 HGNC:6500 lysosomal-associated membrane protein 1 pseudogene 1 LAMP1P1 Yes No GenAtlas:LAMP1L1, GeneCard:LAMP1L1, HGNC:HGNC:6500, NCBI Gene:100421198 No chr12 1973747 1974853 1865283 1865794 +PA30285 3920 HGNC:6501 ENSG00000005893 lysosomal associated membrane protein 2 LAMP2 lysosomal-associated membrane protein 2 CD107b Yes No Comparative Toxicogenomics Database:3920, Ensembl:ENSG00000005893, GenAtlas:LAMP2, GeneCard:LAMP2, HGNC:HGNC:6501, HumanCyc Gene:HS00154, ModBase:P13473, NCBI Gene:3920, OMIM:300257, OMIM:309060, RefSeq DNA:NG_007995, RefSeq DNA:NT_011786, RefSeq Protein:NP_001116078, RefSeq Protein:NP_002285, RefSeq Protein:NP_054701, RefSeq RNA:NM_001122606, RefSeq RNA:NM_002294, RefSeq RNA:NM_013995, UCSC Genome Browser:NM_002294, UniProtKB:P13473, UniProtKB:Q6Q3G8 No chrX 119560003 119603204 120426148 120469349 +PA30286 27074 HGNC:14582 ENSG00000078081 lysosomal associated membrane protein 3 LAMP3 lysosomal-associated membrane protein 3 CD208, DC-LAMP, DCLAMP, LAMP, TSC403 Yes No Comparative Toxicogenomics Database:27074, Ensembl:ENSG00000078081, GenAtlas:LAMP3, GeneCard:LAMP3, HGNC:HGNC:14582, HumanCyc Gene:HS01270, ModBase:Q9UQV4, NCBI Gene:27074, OMIM:605883, RefSeq DNA:NT_005612, RefSeq Protein:NP_055213, RefSeq RNA:NM_014398, UCSC Genome Browser:NM_014398, UniProtKB:Q9UQV4 No chr3 182840003 182880667 183122213 183162879 +PA25643 24141 HGNC:16097 ENSG00000125869 lysosomal associated membrane protein family member 5 LAMP5 """brain and dendritic cell associated LAMP"", ""lysosomal-associated membrane protein family, member 5""" BAD-LAMP, C20orf103, UNC-43, UNC-46, dJ1119D9.3 Yes No Ensembl:ENSG00000125869, GenAtlas:C20orf103, GeneCard:C20orf103, HGNC:HGNC:16097, HumanCyc Gene:HS04962, NCBI Gene:24141, RefSeq DNA:NT_011387, RefSeq Protein:NP_001186826, RefSeq Protein:NP_036393, RefSeq RNA:NM_001199897, RefSeq RNA:NM_012261, UCSC Genome Browser:NM_012261, UniProtKB:Q9UJQ1 No chr20 9495005 9511171 9514358 9530524 +PA143485354 55004 HGNC:26068 ENSG00000149357 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 LAMTOR1 p27kip1 releasing factor from RhoA, protein associated with DRMs and endosomes C11orf59, FLJ20625, Pdro, Ragulator1, p18, p27RF-Rho Yes No Ensembl:ENSG00000149357, GeneCard:C11orf59, HGNC:HGNC:26068, HumanCyc Gene:HS14280, NCBI Gene:55004, OMIM:613510, RefSeq DNA:NT_167190, RefSeq Protein:NP_060377, RefSeq RNA:NM_017907, UniProtKB:Q6IAA8 No chr11 71805371 71814433 72097292 72103387 +PA164725527 28956 HGNC:29796 ENSG00000116586 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 LAMTOR2 MAPKSP1 adaptor protein, endosomal adaptor protein, mitogen activated protein binding protein interacting protein ENDAP, MAPBPIP, MAPKSP1AP, ROBLD3, Ragulator2, p14 Yes No Ensembl:ENSG00000116586, GeneCard:ROBLD3, HGNC:HGNC:29796, HumanCyc Gene:HS04025, ModBase:Q9Y2Q5, NCBI Gene:28956, OMIM:610389, OMIM:610798, RefSeq DNA:NG_009898, RefSeq DNA:NT_004487, RefSeq Protein:NP_001138736, RefSeq Protein:NP_054736, RefSeq RNA:NM_001145264, RefSeq RNA:NM_014017, UniProtKB:Q5VY98, UniProtKB:Q9Y2Q5 No chr1 156024517 156028301 156054726 156058510 +PA164722189 8649 HGNC:15606 ENSG00000109270 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 LAMTOR3 MEK partner 1 MAP2K1IP1, MAPBP, MAPKSP1, MP1, Ragulator3 Yes No Ensembl:ENSG00000109270, GeneCard:MAPKSP1, HGNC:HGNC:15606, HumanCyc Gene:HS03215, ModBase:Q9UHA4, NCBI Gene:8649, OMIM:603296, RefSeq DNA:NT_016354, RefSeq Protein:NP_068805, RefSeq RNA:NM_021970, RefSeq RNA:NR_024170, UniProtKB:Q9UHA4 No chr4 100799495 100815703 99878338 99894546 +PA162380687 389541 HGNC:33772 ENSG00000188186 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 LAMTOR4 C7orf59 Yes No Ensembl:ENSG00000188186, GeneCard:C7orf59, HGNC:HGNC:33772, ModBase:Q0VGL1, NCBI Gene:389541, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001008396, RefSeq RNA:NM_001008395, UniProtKB:Q0VGL1 No chr7 99746530 99751833 100130969 100154212 +PA29211 10542 HGNC:17955 ENSG00000134248 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 LAMTOR5 HBx-interacting protein, hepatitis B virus x-interacting protein (9.6kD) HBXIP, MGC71071, XIP Yes No Ensembl:ENSG00000134248, GenAtlas:HBXIP, GeneCard:HBXIP, HGNC:HGNC:17955, HumanCyc Gene:HS05840, NCBI Gene:10542, OMIM:608521, RefSeq DNA:NT_032977, RefSeq Protein:NP_006393, RefSeq RNA:NM_006402, UCSC Genome Browser:NM_006402, UniProtKB:O43504 No chr1 110943875 110950546 110401253 110407924 +PA30293 10314 HGNC:6508 ENSG00000115365 LanC like glutathione S-transferase 1 LANCL1 LanC lantibiotic synthetase component C-like 1 (bacterial), LanC like 1 GPR69A, p40 Yes No Comparative Toxicogenomics Database:10314, Ensembl:ENSG00000115365, GenAtlas:LANCL1, GeneCard:LANCL1, HGNC:HGNC:6508, HumanCyc Gene:HS03878, ModBase:O43813, NCBI Gene:10314, OMIM:604155, RefSeq DNA:NT_005403, RefSeq Protein:NP_001130046, RefSeq Protein:NP_001130047, RefSeq Protein:NP_006046, RefSeq RNA:NM_001136574, RefSeq RNA:NM_001136575, RefSeq RNA:NM_006055, UCSC Genome Browser:NM_006055, UniProtKB:B2R602, UniProtKB:O43813, UniProtKB:Q53TN2 No chr2 211295973 211342347 210431249 210477618 +PA30294 55915 HGNC:6509 ENSG00000132434 LanC like glutathione S-transferase 2 LANCL2 G protein-coupled receptor 69B, LanC lantibiotic synthetase component C-like 2 (bacterial), LanC like 2, testis-specific adriamycin sensitivity protein GPR69B, TASP Yes No Ensembl:ENSG00000132434, GenAtlas:LANCL2, GeneCard:LANCL2, HGNC:HGNC:6509, HumanCyc Gene:HS13427, ModBase:Q9NS86, NCBI Gene:55915, OMIM:612919, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_061167, RefSeq RNA:NM_018697, UCSC Genome Browser:NM_018697, UniProtKB:B3KTN5, UniProtKB:Q9NS86 No chr7 55433141 55501435 55365448 55433742 +PA134879796 347404 HGNC:24767 ENSG00000147036 LanC like family member 3 LANCL3 LanC lantibiotic synthetase component C-like 3 (bacterial), LanC like 3 FLJ42925 Yes No Ensembl:ENSG00000147036, GeneCard:LANCL3, HGNC:HGNC:24767, ModBase:Q6ZV70, NCBI Gene:347404, RefSeq DNA:NG_016368, RefSeq DNA:NT_079573, RefSeq Protein:NP_001163802, RefSeq Protein:NP_940913, RefSeq RNA:NM_001170331, RefSeq RNA:NM_198511, UniProtKB:Q6ZV70 No chrX 37430822 37536750 37571569 37684463 +PA38537 51056 HGNC:18449 ENSG00000002549 leucine aminopeptidase 3 LAP3 LAP, LAPEP, PEPS Yes No Comparative Toxicogenomics Database:51056, Ensembl:ENSG00000002549, GenAtlas:LAP3, GeneCard:LAP3, HGNC:HGNC:18449, HumanCyc Gene:HS00080, ModBase:P28838, NCBI Gene:51056, OMIM:170250, RefSeq DNA:NT_006316, RefSeq Protein:NP_056991, RefSeq RNA:NM_015907, UCSC Genome Browser:NM_015907, UniProtKB:P28838 No chr4 17578927 17609590 17577304 17607967 +PA30295 9741 HGNC:6924 ENSG00000068697 lysosomal protein transmembrane 4 alpha LAPTM4A HUMORF13, KIAA0108, LAPTM4, MBNT, Mtrp Yes No Comparative Toxicogenomics Database:9741, Ensembl:ENSG00000068697, GenAtlas:LAPTM4A, GeneCard:LAPTM4A, HGNC:HGNC:6924, HumanCyc Gene:HS00941, ModBase:Q15012, NCBI Gene:9741, RefSeq DNA:NT_015926, RefSeq Protein:NP_055528, RefSeq RNA:NM_014713, UCSC Genome Browser:NM_014713, UniProtKB:Q15012, UniProtKB:Q6IBP4 No chr2 20232411 20251789 20032650 20052028 +PA128395785 55353 HGNC:13646 ENSG00000104341 lysosomal protein transmembrane 4 beta LAPTM4B LC27 Yes No Ensembl:ENSG00000104341, GeneCard:LAPTM4B, HGNC:HGNC:13646, HumanCyc Gene:HS02569, NCBI Gene:55353, OMIM:613296, RefSeq DNA:NT_008046, RefSeq Protein:NP_060877, RefSeq RNA:NM_018407, UCSC Genome Browser:NM_018407, UniProtKB:Q86VI4 No chr8 98787809 98864830 97775581 97852602 +PA134953439 7805 HGNC:29612 ENSG00000162511 lysosomal protein transmembrane 5 LAPTM5 Yes No Comparative Toxicogenomics Database:7805, Ensembl:ENSG00000162511, GeneCard:LAPTM5, HGNC:HGNC:29612, HumanCyc Gene:HS08686, ModBase:Q13571, NCBI Gene:7805, OMIM:601476, RefSeq DNA:NT_032977, RefSeq Protein:NP_006753, RefSeq RNA:NM_006762, UniProtKB:Q13571, UniProtKB:Q5TBB8 No chr1 31205315 31230683 30732468 30757840 +PA30296 9215 HGNC:6511 ENSG00000133424 LARGE xylosyl- and glucuronyltransferase 1 LARGE1 like-acetylglucosaminyltransferase, like-glycosyltransferase KIAA0609, LARGE Yes No Comparative Toxicogenomics Database:9215, Ensembl:ENSG00000133424, GenAtlas:LARGE, GeneCard:LARGE, HGNC:HGNC:6511, HumanCyc Gene:HS05762, ModBase:O95461, NCBI Gene:9215, OMIM:236670, OMIM:603590, OMIM:608840, RefSeq DNA:NG_009929, RefSeq DNA:NT_011520, RefSeq Protein:NP_004728, RefSeq Protein:NP_598397, RefSeq RNA:NM_004737, RefSeq RNA:NM_133642, UCSC Genome Browser:NM_004737, UniProtKB:O95461 No chr22 33668509 34316464 33162237 33922841 +PA142671704 120071 HGNC:16522 ENSG00000165905 LARGE xylosyl- and glucuronyltransferase 2 LARGE2 glycosyltransferase-like 1B FLJ35207, GYLTL1B, LARGE2, PP5656 Yes No Ensembl:ENSG00000165905, GeneCard:GYLTL1B, HGNC:HGNC:16522, HumanCyc Gene:HS09299, ModBase:Q8N3Y3, NCBI Gene:120071, OMIM:609709, RefSeq DNA:NT_009237, RefSeq Protein:NP_689525, RefSeq RNA:NM_152312, UniProtKB:B3KP69, UniProtKB:Q8N3Y3 No chr11 45943172 45950647 45921621 45929096 +PA142671564 23367 HGNC:29531 ENSG00000155506 La ribonucleoprotein 1, translational regulator LARP1 """La ribonucleoprotein domain family member 1"", ""La ribonucleoprotein domain family, member 1""" KIAA0731, LARP, Lar1, Lhp1, MGC19556 Yes No Comparative Toxicogenomics Database:23367, Ensembl:ENSG00000155506, GeneCard:LARP1, HGNC:HGNC:29531, HumanCyc Gene:HS08055, ModBase:Q6PKG0, NCBI Gene:23367, OMIM:612059, RefSeq DNA:NT_029289, RefSeq Protein:NP_056130, RefSeq Protein:NP_291029, RefSeq RNA:NM_015315, RefSeq RNA:NM_033551, UniProtKB:Q6PKG0 No chr5 154062224 154197167 154682663 154817607 +PA165664174 55132 HGNC:24704 ENSG00000138709 La ribonucleoprotein 1B LARP1B """La ribonucleoprotein domain family member 1B"", ""La ribonucleoprotein domain family, member 1B""" DKFZp434K245, DKFZp686E0316, FLJ10378, LARP2 Yes Yes Comparative Toxicogenomics Database:55132, Ensembl:ENSG00000138709, GeneCard:LARP1B, HGNC:HGNC:24704, HumanCyc Gene:HS06540, ModBase:Q8N6F4, NCBI Gene:55132, RefSeq DNA:NT_016354, RefSeq Protein:NP_060548, RefSeq Protein:NP_115615, RefSeq Protein:NP_835144, RefSeq RNA:NM_018078, RefSeq RNA:NM_032239, RefSeq RNA:NM_178043, UniProtKB:Q659C4 No chr4 128982421 129144086 128060655 128222931 +PA134898990 100379623 HGNC:23183 ENSG00000217159 La ribonucleoprotein domain family, member 1 pseudogene 1 LARP1P1 dJ221C16.7 Yes No Ensembl:ENSG00000217159, GeneCard:HCG10P, HGNC:HGNC:23183, NCBI Gene:100379623 No chr6 26164261 26168404 26164033 26168176 +PA142671566 113251 HGNC:24320 ENSG00000161813 La ribonucleoprotein 4 LARP4 """La ribonucleoprotein domain family member 4"", ""La ribonucleoprotein domain family, member 4"", ""La-related protein 4""" PP13296 Yes No Comparative Toxicogenomics Database:113251, Ensembl:ENSG00000161813, GeneCard:LARP4, HGNC:HGNC:24320, HumanCyc Gene:HS08614, ModBase:Q71RC2, NCBI Gene:113251, RefSeq DNA:NT_029419, RefSeq Protein:NP_001164274, RefSeq Protein:NP_001164275, RefSeq Protein:NP_001164279, RefSeq Protein:NP_443111, RefSeq Protein:NP_954658, RefSeq Protein:NP_954660, RefSeq RNA:NM_001170803, RefSeq RNA:NM_001170804, RefSeq RNA:NM_001170808, RefSeq RNA:NM_052879, RefSeq RNA:NM_199188, RefSeq RNA:NM_199190, RefSeq RNA:NR_033200, UniProtKB:Q6P4E2, UniProtKB:Q71RC2, UniProtKB:Q8TBL5, UniProtKB:Q96J85 No chr12 50794592 50873788 50400809 50480005 +PA165548762 23185 HGNC:28987 ENSG00000107929 La ribonucleoprotein 4B LARP4B """La ribonucleoprotein domain family member 4B"", ""La ribonucleoprotein domain family, member 4B""" KIAA0217, LARP5 Yes No Ensembl:ENSG00000107929, GeneCard:LARP4B, HGNC:HGNC:28987, ModBase:Q92615, NCBI Gene:23185, RefSeq DNA:NT_008705, RefSeq DNA:NT_077567, RefSeq Protein:NP_055970, RefSeq RNA:NM_015155, UniProtKB:A7MD20, UniProtKB:Q92615 No chr10 852854 977645 806914 931900 +PA142671567 554354 HGNC:21438 ENSG00000261315 La ribonucleoprotein domain family, member 4 pseudogene LARP4P Yes No Ensembl:ENSG00000261315, GeneCard:LARP4P, HGNC:HGNC:21438, NCBI Gene:554354, RefSeq DNA:NG_016303 No chr15 36909213 36910624 36617012 36618423 +PA142671568 55323 HGNC:24012 ENSG00000166173 La ribonucleoprotein 6, translational regulator LARP6 """La ribonucleoprotein domain family member 6"", ""La ribonucleoprotein domain family, member 6""" FLJ11196, acheron Yes No Ensembl:ENSG00000166173, GeneCard:LARP6, HGNC:HGNC:24012, HumanCyc Gene:HS09349, ModBase:Q9BRS8, NCBI Gene:55323, OMIM:611300, RefSeq DNA:NT_010194, RefSeq Protein:NP_060827, RefSeq Protein:NP_932062, RefSeq RNA:NM_018357, RefSeq RNA:NM_197958, UniProtKB:Q5XKE4, UniProtKB:Q9BRS8 No chr15 71123889 71146498 70831524 70854265 +PA145148525 51574 HGNC:24912 ENSG00000174720 La ribonucleoprotein 7, transcriptional regulator LARP7 """La ribonucleoprotein domain family member 7"", ""La ribonucleoprotein domain family, member 7"", ""P-TEFb-interaction protein for 7SK stability""" DKFZP564K112, HDCMA18P, PIP7S Yes No Comparative Toxicogenomics Database:51574, Ensembl:ENSG00000174720, GeneCard:LARP7, HGNC:HGNC:24912, HumanCyc Gene:HS16384, ModBase:Q4G0J3, NCBI Gene:51574, OMIM:612026, RefSeq DNA:NT_016354, RefSeq Protein:NP_056269, RefSeq Protein:NP_057732, RefSeq RNA:NM_015454, RefSeq RNA:NM_016648, UniProtKB:Q4G0J3 No chr4 113558120 113578748 112636964 112657592 +PA30297 51520 HGNC:6512 leucyl-tRNA synthetase 1 LARS1 """leucine tRNA ligase 1, cytoplasmic"", ""leucyl-tRNA synthetase""" FLJ10595, FLJ21788, HSPC192, LARS, LARS1, LEUS, RNTLS Yes No Comparative Toxicogenomics Database:51520, GenAtlas:LARS, GeneCard:LARS, HGNC:HGNC:6512, HumanCyc Gene:HS05781, ModBase:Q9P2J5, NCBI Gene:51520, OMIM:151350, RefSeq DNA:NT_029289, RefSeq Protein:NP_064502, RefSeq RNA:NM_020117, UCSC Genome Browser:NM_016460, UCSC Genome Browser:NM_020117, UniProtKB:Q9P2J5 No chr5 145492589 145562294 146113026 146182787 +PA134982982 23395 HGNC:17095 ENSG00000011376 leucyl-tRNA synthetase 2, mitochondrial LARS2 leucine tRNA ligase 2, mitochondrial KIAA0028, LEURS, MGC26121, mtLeuRS Yes No Comparative Toxicogenomics Database:23395, Ensembl:ENSG00000011376, GeneCard:LARS2, HGNC:HGNC:17095, HumanCyc Gene:HS00314, ModBase:Q15031, NCBI Gene:23395, OMIM:604544, RefSeq DNA:NT_022517, RefSeq Protein:NP_056155, RefSeq RNA:NM_015340, UniProtKB:Q15031 No chr3 45430053 45590334 45388561 45548842 +PA128394732 81887 HGNC:25726 ENSG00000001497 LAS1 like ribosome biogenesis factor LAS1L """LAS1 like, ribosome biogenesis factor"", ""LAS1-like (S. cerevisiae)""" FLJ12525, Las1 Yes No Ensembl:ENSG00000001497, GeneCard:LAS1L, HGNC:HGNC:25726, HumanCyc Gene:HS11987, ModBase:Q9Y4W2, NCBI Gene:81887, RefSeq DNA:NG_016369, RefSeq DNA:NT_011669, RefSeq Protein:NP_001164120, RefSeq Protein:NP_001164121, RefSeq Protein:NP_112483, RefSeq RNA:NM_001170649, RefSeq RNA:NM_001170650, RefSeq RNA:NM_031206, UCSC Genome Browser:NM_031206, UniProtKB:Q9Y4W2 No chrX 64732462 64754686 65512582 65534806 +PA30298 3927 HGNC:6513 ENSG00000002834 LIM and SH3 protein 1 LASP1 Lasp-1, MLN50 Yes No Comparative Toxicogenomics Database:3927, Ensembl:ENSG00000002834, GenAtlas:LASP1, GeneCard:LASP1, HGNC:HGNC:6513, HumanCyc Gene:HS00087, ModBase:Q14847, NCBI Gene:3927, OMIM:602920, RefSeq DNA:NT_010783, RefSeq Protein:NP_006139, RefSeq RNA:NM_006148, UCSC Genome Browser:NM_006148, UniProtKB:Q14847 No chr17 37026112 37078023 38869859 38921770 +PA166351934 100505576 HGNC:44353 LASP1 neighbor LASP1NB LINC00672 Yes No HGNC:HGNC:44353, NCBI Gene:100505576 No 0 0 0 0 +PA38728 27040 HGNC:18874 ENSG00000213658 linker for activation of T cells LAT linker for activation of T cells, transmembrane adaptor LAT1 Yes No Comparative Toxicogenomics Database:27040, Ensembl:ENSG00000213658, GenAtlas:LAT, GeneCard:LAT, HGNC:HGNC:18874, ModBase:O43561, NCBI Gene:27040, OMIM:602354, RefSeq DNA:NT_010393, RefSeq Protein:NP_001014987, RefSeq Protein:NP_001014988, RefSeq Protein:NP_001014989, RefSeq Protein:NP_055202, RefSeq RNA:NM_001014987, RefSeq RNA:NM_001014988, RefSeq RNA:NM_001014989, RefSeq RNA:NM_014387, UCSC Genome Browser:NM_014387, UniProtKB:B7WPI0, UniProtKB:O43561 No chr16 28996147 29002104 28984826 28990783 +PA37356 7462 HGNC:12749 ENSG00000086730 linker for activation of T cells family member 2 LAT2 """linker for activation of B cells"", ""linker for activation of T cells family, member 2"", ""linker for activation of T cells, transmembrane adaptor 2"", ""non-T cell activation linker""" HSPC046, LAB, NTAL, WBSCR15, WBSCR5, WSCR5 Yes No Comparative Toxicogenomics Database:7462, Ensembl:ENSG00000086730, GenAtlas:LAT2, GeneCard:LAT2, HGNC:HGNC:12749, HumanCyc Gene:HS01542, NCBI Gene:7462, OMIM:605719, RefSeq DNA:NG_023256, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_054865, RefSeq Protein:NP_115852, RefSeq Protein:NP_115853, RefSeq RNA:NM_014146, RefSeq RNA:NM_032463, RefSeq RNA:NM_032464, UCSC Genome Browser:NM_014146, UniProtKB:Q9GZY6 No chr7 73624087 73644164 74209757 74229834 +PA30301 9113 HGNC:6514 ENSG00000131023 large tumor suppressor kinase 1 LATS1 WARTS Yes No Ensembl:ENSG00000131023, GenAtlas:LATS1, GeneCard:LATS1, HGNC:HGNC:6514, HumanCyc Gene:HS05473, ModBase:O95835, NCBI Gene:9113, OMIM:603473, RefSeq DNA:NT_025741, RefSeq Protein:NP_004681, RefSeq RNA:NM_004690, UCSC Genome Browser:NM_004690, UniProtKB:O95835 No chr6 149979289 150039392 149658153 149718256 +PA30302 26524 HGNC:6515 ENSG00000150457 large tumor suppressor kinase 2 LATS2 Yes Yes Comparative Toxicogenomics Database:26524, Ensembl:ENSG00000150457, GenAtlas:LATS2, GeneCard:LATS2, HGNC:HGNC:6515, HumanCyc Gene:HS07670, ModBase:Q9NRM7, NCBI Gene:26524, OMIM:604861, RefSeq DNA:NT_024524, RefSeq Protein:NP_055387, RefSeq RNA:NM_014572, UCSC Genome Browser:NM_014572, UniProtKB:Q9NRM7 No chr13 21547175 21635722 20973036 21061583 +PA142671569 54900 HGNC:26005 ENSG00000122188 lymphocyte transmembrane adaptor 1 LAX1 LAT-like membrane associated protein, linker for activation of x cells FLJ20340, LAX Yes No Ensembl:ENSG00000122188, GeneCard:LAX1, HGNC:HGNC:26005, HumanCyc Gene:HS13045, ModBase:Q8IWV1, NCBI Gene:54900, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129662, RefSeq Protein:NP_060243, RefSeq RNA:NM_001136190, RefSeq RNA:NM_017773, UniProtKB:Q8IWV1 No chr1 203734284 203745500 203765132 203778175 +PA142671570 143903 HGNC:29471 ENSG00000204381 layilin LAYN FLJ30977, FLJ31092 Yes No Comparative Toxicogenomics Database:143903, Ensembl:ENSG00000204381, GeneCard:LAYN, HGNC:HGNC:29471, ModBase:Q6UX15, NCBI Gene:143903, RefSeq DNA:NT_033899, RefSeq Protein:NP_849156, RefSeq RNA:NM_178834, UniProtKB:Q6UX15 No chr11 111411233 111432470 111540280 111563464 +PA162393798 81606 HGNC:29532 ENSG00000213626 LBH regulator of WNT signaling pathway LBH limb bud and heart development Yes No Ensembl:ENSG00000213626, GeneCard:LBH, HGNC:HGNC:29532, HumanCyc Gene:HS15947, NCBI Gene:81606, OMIM:611763, RefSeq DNA:NT_022184, RefSeq Protein:NP_112177, RefSeq RNA:NM_030915, UniProtKB:Q53QV2 No chr2 30454397 30482899 30231531 30260033 +PA142672293 79081 HGNC:28351 ENSG00000162194 LBH domain containing 1 LBHD1 chromosome 11 open reading frame 48 C11orf48, MGC2477 Yes No Ensembl:ENSG00000162194, GeneCard:C11orf48, HGNC:HGNC:28351, HumanCyc Gene:HS14902, NCBI Gene:79081, RefSeq DNA:NT_167190, RefSeq Protein:NP_077004, RefSeq RNA:NM_024099, UniProtKB:Q9BQE6 No chr11 62430289 62439241 62662817 62671769 +PA166181551 107984640 HGNC:52384 ENSG00000283071 LBH domain containing 2 LBHD2 Yes No Ensembl:ENSG00000283071, HGNC:HGNC:52384, NCBI Gene:107984640 No 0 0 0 0 +PA30303 3929 HGNC:6517 ENSG00000129988 lipopolysaccharide binding protein LBP BPI fold containing family D, member 2 BPIFD2 Yes No Comparative Toxicogenomics Database:3929, Ensembl:ENSG00000129988, GenAtlas:LBP, GeneCard:LBP, HGNC:HGNC:6517, HumanCyc Gene:HS05323, ModBase:P18428, NCBI Gene:3929, OMIM:151990, RefSeq DNA:NT_011362, RefSeq Protein:NP_004130, RefSeq RNA:NM_004139, UCSC Genome Browser:NM_004139, UniProtKB:P18428, UniProtKB:Q8TCF0 No chr20 36974814 37005653 38346411 38377011 +PA30304 3930 HGNC:6518 ENSG00000143815 lamin B receptor LBR tudor domain containing 18 DHCR14B, TDRD18 Yes No Comparative Toxicogenomics Database:3930, Ensembl:ENSG00000143815, GenAtlas:LBR, GeneCard:LBR, HGNC:HGNC:6518, HumanCyc Gene:HS07110, ModBase:Q14739, NCBI Gene:3930, OMIM:169400, OMIM:215140, OMIM:600024, RefSeq DNA:NG_008099, RefSeq DNA:NT_167186, RefSeq Protein:NP_002287, RefSeq Protein:NP_919424, RefSeq RNA:NM_002296, RefSeq RNA:NM_194442, UCSC Genome Browser:NM_002296, UniProtKB:Q14739 No chr1 225589204 225616557 225401502 225428855 +PA142671561 10660 HGNC:16960 ENSG00000138136 ladybird homeobox 1 LBX1 HPX6, LBX1H Yes No Ensembl:ENSG00000138136, GeneCard:LBX1, HGNC:HGNC:16960, HumanCyc Gene:HS06463, ModBase:P52954, NCBI Gene:10660, OMIM:604255, RefSeq DNA:NG_009236, RefSeq DNA:NT_030059, RefSeq Protein:NP_006553, RefSeq RNA:NM_006562, UniProtKB:P52954 No chr10 102986733 102989954 101226976 101228960 +PA30305 85474 HGNC:15525 ENSG00000179528 ladybird homeobox 2 LBX2 Yes No Ensembl:ENSG00000179528, GenAtlas:LBX2, GeneCard:LBX2, HGNC:HGNC:15525, ModBase:Q6XYB7, NCBI Gene:85474, OMIM:607164, RefSeq DNA:NT_022184, RefSeq Protein:NP_001009812, RefSeq RNA:NM_001009812, UniProtKB:Q6XYB7 No chr2 74724644 74730443 74497517 74503316 +PA142671563 167691 HGNC:31923 ENSG00000135338 lebercilin LCA5 LCA5 """LCA5, lebercilin"", ""Leber congenital amaurosis 5"", ""lebercilin""" C6orf152 Yes No Ensembl:ENSG00000135338, GeneCard:LCA5, HGNC:HGNC:31923, ModBase:Q86VQ0, NCBI Gene:167691, OMIM:604537, OMIM:611408, RefSeq DNA:NG_016011, RefSeq DNA:NT_007299, RefSeq Protein:NP_001116241, RefSeq Protein:NP_859065, RefSeq RNA:NM_001122769, RefSeq RNA:NM_181714, UniProtKB:Q86VQ0 No chr6 80194708 80247147 79484991 79537430 +PA162393809 150082 HGNC:1255 ENSG00000157578 lebercilin LCA5 like LCA5L """LCA5L, lebercilin like"", ""Leber congenital amaurosis 5-like""" C21orf13, MGC33295 Yes No Ensembl:ENSG00000157578, GeneCard:LCA5L, HGNC:HGNC:1255, HumanCyc Gene:HS08226, ModBase:O95447, NCBI Gene:150082, RefSeq DNA:NT_011512, RefSeq Protein:NP_689718, RefSeq RNA:NM_152505, UniProtKB:O95447 No chr21 40777770 40817676 39405844 39445796 +PA226 3931 HGNC:6522 ENSG00000213398 lecithin-cholesterol acyltransferase LCAT phosphatidylcholine--sterol O-acyltransferase Yes No Comparative Toxicogenomics Database:3931, Ensembl:ENSG00000213398, GenAtlas:LCAT, GeneCard:LCAT, HGNC:HGNC:6522, HumanCyc Gene:HS02453, ModBase:P04180, NCBI Gene:3931, OMIM:136120, OMIM:245900, OMIM:606967, RefSeq DNA:NG_009778, RefSeq DNA:NT_010498, RefSeq Protein:NP_000220, RefSeq RNA:NM_000229, UCSC Genome Browser:NM_000229, UniProtKB:P04180, UniProtKB:Q53XQ3 No chr16 67973787 67978656 67939884 67944112 +PA134885053 353131 HGNC:29459 ENSG00000186844 late cornified envelope 1A LCE1A LEP1 Yes No Ensembl:ENSG00000186844, GeneCard:LCE1A, HGNC:HGNC:29459, ModBase:Q5T7P2, NCBI Gene:353131, OMIM:612603, RefSeq DNA:NT_004487, RefSeq Protein:NP_848125, RefSeq RNA:NM_178348, UniProtKB:Q5T7P2 No chr1 152799949 152800573 152827473 152828097 +PA38171 353132 HGNC:16611 ENSG00000196734 late cornified envelope 1B LCE1B LEP2, SPRL2A Yes No Ensembl:ENSG00000196734, GenAtlas:LCE1B, GeneCard:LCE1B, HGNC:HGNC:16611, ModBase:Q5T7P3, NCBI Gene:353132, OMIM:612604, RefSeq DNA:NT_004487, RefSeq Protein:NP_848126, RefSeq RNA:NM_178349, UCSC Genome Browser:NM_178349, UniProtKB:Q5T7P3 No chr1 152784447 152785585 152811971 152813109 +PA134895875 353133 HGNC:29464 ENSG00000197084 late cornified envelope 1C LCE1C LEP3 Yes No Ensembl:ENSG00000197084, GeneCard:LCE1C, HGNC:HGNC:29464, ModBase:Q5T751, NCBI Gene:353133, OMIM:612605, RefSeq DNA:NT_004487, RefSeq Protein:NP_848128, RefSeq RNA:NM_178351, UniProtKB:Q5T751 No chr1 152777311 152779107 152804835 152806631 +PA134906518 353134 HGNC:29465 ENSG00000172155 late cornified envelope 1D LCE1D LEP4 Yes No Comparative Toxicogenomics Database:353134, Ensembl:ENSG00000172155, GeneCard:LCE1D, HGNC:HGNC:29465, ModBase:Q5T752, NCBI Gene:353134, OMIM:612606, RefSeq DNA:NT_004487, RefSeq Protein:NP_848129, RefSeq RNA:NM_178352, UniProtKB:Q5T752 No chr1 152769227 152770657 152796751 152798181 +PA134866413 353135 HGNC:29466 ENSG00000186226 late cornified envelope 1E LCE1E LEP5 Yes No Comparative Toxicogenomics Database:353135, Ensembl:ENSG00000186226, GeneCard:LCE1E, HGNC:HGNC:29466, ModBase:Q5T753, NCBI Gene:353135, OMIM:612607, RefSeq DNA:NT_004487, RefSeq Protein:NP_848130, RefSeq RNA:NM_178353, UniProtKB:Q5T753 No chr1 152758753 152760902 152786277 152788426 +PA134962947 353137 HGNC:29467 ENSG00000240386 late cornified envelope 1F LCE1F LEP6 Yes No Comparative Toxicogenomics Database:353137, Ensembl:ENSG00000240386, GeneCard:LCE1F, HGNC:HGNC:29467, ModBase:Q5T754, NCBI Gene:353137, OMIM:612608, RefSeq DNA:NT_004487, RefSeq Protein:NP_848131, RefSeq RNA:NM_178354, UniProtKB:Q5T754 No chr1 152748848 152749445 152776372 152776969 +PA134911274 353139 HGNC:29469 ENSG00000187173 late cornified envelope 2A LCE2A LEP9 Yes No Ensembl:ENSG00000187173, GeneCard:LCE2A, HGNC:HGNC:29469, ModBase:Q5TA79, NCBI Gene:353139, OMIM:612609, RefSeq DNA:NT_004487, RefSeq Protein:NP_848515, RefSeq RNA:NM_178428, UniProtKB:Q5TA79 No chr1 152670840 152671918 152698364 152699442 +PA38170 26239 HGNC:16610 ENSG00000159455 late cornified envelope 2B LCE2B LEP10, SPRL1B, XP5 Yes No Ensembl:ENSG00000159455, GenAtlas:LCE2B, GeneCard:LCE2B, HGNC:HGNC:16610, HumanCyc Gene:HS08404, ModBase:O14633, NCBI Gene:26239, OMIM:612610, RefSeq DNA:NT_004487, RefSeq Protein:NP_055172, RefSeq RNA:NM_014357, UCSC Genome Browser:NM_014357, UniProtKB:O14633 No chr1 152658599 152659877 152686123 152687401 +PA134903160 353140 HGNC:29460 ENSG00000187180 late cornified envelope 2C LCE2C LEP11 Yes No Ensembl:ENSG00000187180, GeneCard:LCE2C, HGNC:HGNC:29460, ModBase:Q5TA81, NCBI Gene:353140, OMIM:612611, RefSeq DNA:NT_004487, RefSeq Protein:NP_848516, RefSeq RNA:NM_178429, UniProtKB:Q5TA81 No chr1 152647791 152649050 152675315 152676574 +PA38157 353141 HGNC:16518 ENSG00000187223 late cornified envelope 2D LCE2D LEP12, SPRL1A Yes No Ensembl:ENSG00000187223, GenAtlas:LCE2D, GeneCard:LCE2D, HGNC:HGNC:16518, ModBase:Q5TA82, NCBI Gene:353141, OMIM:612612, RefSeq DNA:NT_004487, RefSeq Protein:NP_848517, RefSeq RNA:NM_178430, UCSC Genome Browser:NM_178430, UniProtKB:Q5TA82 No chr1 152635887 152637135 152663411 152664659 +PA134880553 353142 HGNC:29461 ENSG00000185962 late cornified envelope 3A LCE3A LEP13 Yes No Ensembl:ENSG00000185962, GeneCard:LCE3A, HGNC:HGNC:29461, ModBase:Q5TA76, NCBI Gene:353142, OMIM:612613, RefSeq DNA:NT_004487, RefSeq Protein:NP_848518, RefSeq RNA:NM_178431, UniProtKB:Q5TA76 No chr1 152595310 152595579 152622834 152623103 +PA134946555 353143 HGNC:29462 ENSG00000187238 late cornified envelope 3B LCE3B LEP14 Yes No Ensembl:ENSG00000187238, GeneCard:LCE3B, HGNC:HGNC:29462, ModBase:Q5TA77, NCBI Gene:353143, OMIM:612614, RefSeq DNA:NT_004487, RefSeq Protein:NP_848520, RefSeq RNA:NM_178433, UniProtKB:Q5TA77 No chr1 152586287 152586574 152613811 152614098 +PA38407 353144 HGNC:16612 ENSG00000244057 late cornified envelope 3C LCE3C LEP15, SPRL3A Yes No Ensembl:ENSG00000244057, GenAtlas:LCE3C, GeneCard:LCE3C, HGNC:HGNC:16612, ModBase:Q5T5A8, NCBI Gene:353144, OMIM:612615, RefSeq DNA:NT_004487, RefSeq Protein:NP_848521, RefSeq RNA:NM_178434, UCSC Genome Browser:NM_178434, UniProtKB:Q5T5A8 No chr1 152573138 152573562 152600662 152601086 +PA38174 84648 HGNC:16615 ENSG00000163202 late cornified envelope 3D LCE3D LEP16, SPRL6A, SPRL6B Yes No Ensembl:ENSG00000163202, GenAtlas:LCE3D, GeneCard:LCE3D, HGNC:HGNC:16615, HumanCyc Gene:HS15037, ModBase:Q9BYE3, NCBI Gene:84648, OMIM:612616, RefSeq DNA:NT_004487, RefSeq Protein:NP_115952, RefSeq RNA:NM_032563, UCSC Genome Browser:NM_032563, UniProtKB:Q9BYE3 No chr1 152551860 152552980 152579384 152580504 +PA134941153 353145 HGNC:29463 ENSG00000185966 late cornified envelope 3E LCE3E LEP17 Yes No Ensembl:ENSG00000185966, GeneCard:LCE3E, HGNC:HGNC:29463, ModBase:Q5T5B0, NCBI Gene:353145, OMIM:612617, RefSeq DNA:NT_004487, RefSeq Protein:NP_848522, RefSeq RNA:NM_178435, UniProtKB:Q5T5B0 No chr1 152538175 152539229 152565654 152566770 +PA38172 199834 HGNC:16613 ENSG00000187170 late cornified envelope 4A LCE4A LEP8, SPRL4A Yes No Ensembl:ENSG00000187170, GenAtlas:LCE4A, GeneCard:LCE4A, HGNC:HGNC:16613, ModBase:Q5TA78, NCBI Gene:199834, OMIM:612618, RefSeq DNA:NT_004487, RefSeq Protein:NP_848133, RefSeq RNA:NM_178356, UCSC Genome Browser:NM_178356, UniProtKB:Q5TA78 No chr1 152681523 152681910 152709047 152709434 +PA38173 254910 HGNC:16614 ENSG00000186207 late cornified envelope 5A LCE5A LEP18, SPRL5A Yes No Ensembl:ENSG00000186207, GenAtlas:LCE5A, GeneCard:LCE5A, HGNC:HGNC:16614, ModBase:Q5TCM9, NCBI Gene:254910, OMIM:612619, RefSeq DNA:NT_004487, RefSeq Protein:NP_848525, RefSeq RNA:NM_178438, UCSC Genome Browser:NM_178438, UniProtKB:Q5TCM9 No chr1 152483320 152484653 152510844 152512177 +PA162393834 448835 HGNC:31824 ENSG00000235942 late cornified envelope 6A LCE6A C1orf44 Yes No Ensembl:ENSG00000235942, GeneCard:LCE6A, HGNC:HGNC:31824, ModBase:A0A183, NCBI Gene:448835, RefSeq DNA:NT_004487, RefSeq Protein:NP_001122072, RefSeq RNA:NM_001128600, UniProtKB:A0A183 No chr1 152815330 152816459 152842830 152844211 +PA166351935 122526777 HGNC:55921 late cornified envelope 7A LCE7A Yes No HGNC:HGNC:55921, NCBI Gene:122526777 No 0 0 0 0 +PA134945140 450208 HGNC:31806 ENSG00000233819 late cornified envelope pseudogene 1 LCEP1 Yes No Ensembl:ENSG00000233819, GeneCard:LCEP1, HGNC:HGNC:31806, NCBI Gene:450208, RefSeq DNA:NG_006116, RefSeq DNA:NT_004487 No chr1 152716775 152717082 152744299 152744606 +PA134985523 450209 HGNC:31807 ENSG00000229713 late cornified envelope pseudogene 2 LCEP2 Yes No Ensembl:ENSG00000229713, GeneCard:LCEP2, HGNC:HGNC:31807, NCBI Gene:450209, RefSeq DNA:NG_006117, RefSeq DNA:NT_004487 No chr1 152709994 152710344 152737518 152737868 +PA134935385 450211 HGNC:31809 ENSG00000285753 late cornified envelope pseudogene 3 LCEP3 Yes No Ensembl:ENSG00000285753, GeneCard:LCEP3, HGNC:HGNC:31809, NCBI Gene:450211, RefSeq DNA:NG_006119, RefSeq DNA:NT_004487 No chr1 152628808 152628987 152656332 152656511 +PA134943064 450210 HGNC:31808 ENSG00000226947 late cornified envelope pseudogene 4 LCEP4 Yes No Ensembl:ENSG00000226947, GeneCard:LCEP4, HGNC:HGNC:31808, NCBI Gene:450210, RefSeq DNA:NG_006118, RefSeq DNA:NT_004487 No chr1 152616869 152617193 152644393 152644717 +PA30307 3932 HGNC:6524 ENSG00000182866 LCK proto-oncogene, Src family tyrosine kinase LCK lymphocyte-specific protein tyrosine kinase Yes No Comparative Toxicogenomics Database:3932, Ensembl:ENSG00000182866, GenAtlas:LCK, GeneCard:LCK, HGNC:HGNC:6524, HumanCyc Gene:HS00023, ModBase:P06239, NCBI Gene:3932, OMIM:153390, RefSeq DNA:NG_023387, RefSeq DNA:NT_032977, RefSeq Protein:NP_001036236, RefSeq Protein:NP_005347, RefSeq RNA:NM_001042771, RefSeq RNA:NM_005356, UCSC Genome Browser:NM_005356, UniProtKB:P06239 No chr1 32716840 32751766 32251239 32286167 +PA164722072 253558 HGNC:26756 ENSG00000172954 lysocardiolipin acyltransferase 1 LCLAT1 1ysophospholipid acyltransferase 6, acyl-CoA:lysocardiolipin acyltransferase 1 AGPAT8, ALCAT1, FLJ37965, LPLAT6, LYCAT Yes No Ensembl:ENSG00000172954, GeneCard:LCLAT1, HGNC:HGNC:26756, ModBase:Q6UWP7, NCBI Gene:253558, RefSeq DNA:NT_022184, RefSeq Protein:NP_001002257, RefSeq Protein:NP_872357, RefSeq RNA:NM_001002257, RefSeq RNA:NM_182551, UniProtKB:A6H8Z7, UniProtKB:Q6UWP7 No chr2 30670102 30867091 30447226 30644225 +PA134928443 51451 HGNC:17557 ENSG00000205629 leucine carboxyl methyltransferase 1 LCMT1 [phosphatase 2A protein]-leucine-carboxy methyltransferase, protein phosphatase methyltransferase 1 CGI-68, PPMT1 Yes No Comparative Toxicogenomics Database:51451, Ensembl:ENSG00000205629, GeneCard:LCMT1, HGNC:HGNC:17557, ModBase:Q9UIC8, NCBI Gene:51451, OMIM:610286, RefSeq DNA:NT_010393, RefSeq Protein:NP_001027563, RefSeq Protein:NP_057393, RefSeq RNA:NM_001032391, RefSeq RNA:NM_016309, UniProtKB:A6NL89, UniProtKB:Q9UIC8 No chr16 25123047 25189551 25111709 25178231 +PA134878443 9836 HGNC:17558 ENSG00000168806 leucine carboxyl methyltransferase 2 LCMT2 tRNA-yW synthesizing protein 4 KIAA0547, MGC9534, PPM2, TYW4 Yes No Ensembl:ENSG00000168806, GeneCard:LCMT2, HGNC:HGNC:17558, HumanCyc Gene:HS15714, ModBase:O60294, NCBI Gene:9836, OMIM:611246, RefSeq DNA:NT_010194, RefSeq Protein:NP_055608, RefSeq RNA:NM_014793, UniProtKB:O60294 No chr15 43619974 43622820 43327776 43330622 +PA30308 3933 HGNC:6525 ENSG00000160349 lipocalin 1 LCN1 Von Ebner gland protein, lipocalin 1-like 2, tear lipocalin, tear prealbumin MGC71975, PMFA, TLC, TP, VEGP Yes No Comparative Toxicogenomics Database:3933, Ensembl:ENSG00000160349, GenAtlas:LCN1, GeneCard:LCN1, HGNC:HGNC:6525, HumanCyc Gene:HS08493, ModBase:P31025, NCBI Gene:3933, OMIM:151675, RefSeq DNA:NT_019501, RefSeq Protein:NP_002288, RefSeq RNA:NM_002297, UCSC Genome Browser:NM_002297, UniProtKB:P31025 No chr9 138413284 138418386 135521296 135526540 +PA134942375 414332 HGNC:20892 ENSG00000187922 lipocalin 10 LCN10 Yes No Ensembl:ENSG00000187922, GeneCard:LCN10, HGNC:HGNC:20892, ModBase:Q6JVE6, NCBI Gene:414332, OMIM:612904, RefSeq DNA:NT_024000, RefSeq Protein:NP_001001712, RefSeq RNA:NM_001001712, UniProtKB:A2RUU3 No chr9 139632619 139637411 136738167 136742959 +PA134959347 286256 HGNC:28733 ENSG00000184925 lipocalin 12 LCN12 MGC48935 Yes No Comparative Toxicogenomics Database:286256, Ensembl:ENSG00000184925, GeneCard:LCN12, HGNC:HGNC:28733, ModBase:Q6JVE5, NCBI Gene:286256, OMIM:612905, RefSeq DNA:NT_024000, RefSeq Protein:NP_848631, RefSeq RNA:NM_178536, UniProtKB:Q6JVE5 No chr9 139844032 139849957 136949180 136955505 +PA164722091 389812 HGNC:33777 ENSG00000177984 lipocalin 15 LCN15 PRO6093, UNQ2541 Yes No Ensembl:ENSG00000177984, GeneCard:LCN15, HGNC:HGNC:33777, NCBI Gene:389812, RefSeq DNA:NT_024000, RefSeq Protein:NP_976222, RefSeq RNA:NM_203347, UniProtKB:Q6UWW0 No chr9 139654086 139658965 136759634 136764513 +PA134972501 286310 HGNC:23412 ENSG00000119440 lipocalin 1 pseudogene 1 LCN1P1 bA430N14.2 Yes No Ensembl:ENSG00000119440, GeneCard:LCN1P1, HGNC:HGNC:23412, ModBase:Q5VSP4, NCBI Gene:286310, RefSeq DNA:NG_022883, RefSeq DNA:NT_035014, RefSeq RNA:XR_017747, RefSeq RNA:XR_079074, RefSeq RNA:XR_079259 No chr9 136100292 136104038 133224905 133228651 +PA142671559 653163 HGNC:23680 ENSG00000204031 lipocalin 1 pseudogene 2 LCN1P2 bA244N20.11 Yes No Ensembl:ENSG00000204031, GeneCard:LCN1P2, HGNC:HGNC:23680, NCBI Gene:653163, RefSeq DNA:NG_009693, RefSeq DNA:NT_035014 No chr9 136184440 136185304 133317505 133318569 +PA30309 3934 HGNC:6526 ENSG00000148346 lipocalin 2 LCN2 neutrophil gelatinase-associated lipocalin, oncogene 24p3, siderocalin 24p3, NGAL Yes No Comparative Toxicogenomics Database:3934, Ensembl:ENSG00000148346, GenAtlas:LCN2, GeneCard:LCN2, HGNC:HGNC:6526, HumanCyc Gene:HS07519, ModBase:P80188, NCBI Gene:3934, OMIM:600181, RefSeq DNA:NT_008470, RefSeq Protein:NP_005555, RefSeq RNA:NM_005564, UCSC Genome Browser:NM_005564, UniProtKB:P80188 No chr9 130911732 130915734 128149430 128153455 +PA30310 158062 HGNC:17337 ENSG00000267206 lipocalin 6 LCN6 Yes No Ensembl:ENSG00000267206, GenAtlas:LCN6, GeneCard:LCN6, HGNC:HGNC:17337, ModBase:P62502, NCBI Gene:158062, OMIM:609379, RefSeq DNA:NT_024000, RefSeq Protein:NP_945184, RefSeq RNA:NM_198946, UniProtKB:P62502 No chr9 139638469 139642980 136744017 136748528 +PA134958919 138307 HGNC:27038 ENSG00000204001 lipocalin 8 LCN8 LCN5 Yes No Comparative Toxicogenomics Database:138307, Ensembl:ENSG00000204001, GeneCard:LCN8, HGNC:HGNC:27038, ModBase:Q6JVE9, NCBI Gene:138307, OMIM:612902, RefSeq DNA:NT_024000, RefSeq Protein:NP_848564, RefSeq RNA:NM_178469, UniProtKB:A1L4A8, UniProtKB:Q6JVE9, UniProtKB:Q6ZT51 No chr9 139648838 139652995 136754388 136758551 +PA134879860 392399 HGNC:17442 ENSG00000148386 lipocalin 9 LCN9 MUP-like lipocalin, epididymal-specific lipocalin-9 Yes No Ensembl:ENSG00000148386, GeneCard:LCN9, HGNC:HGNC:17442, ModBase:Q8WX39, NCBI Gene:392399, OMIM:612903, RefSeq DNA:NT_019501, RefSeq Protein:NP_001001676, RefSeq RNA:NM_001001676, UniProtKB:Q8WX39 No chr9 138555168 138562577 135663322 135670731 +PA164722092 401562 HGNC:34436 ENSG00000214402 lipocalin like 1 LCNL1 lipocalin-like 1 FLJ45224 Yes No Ensembl:ENSG00000214402, GeneCard:LCNL1, HGNC:HGNC:34436, NCBI Gene:401562, RefSeq DNA:NT_024000, RefSeq Protein:NP_997393, RefSeq RNA:NM_207510, UniProtKB:Q6ZST4 No chr9 139877445 139880210 136982993 136985758 +PA145148487 84458 HGNC:29503 ENSG00000196233 ligand dependent nuclear receptor corepressor LCOR C10orf12, DKFZP564P1916, FLJ13022, FLJ38026, KIAA1795, MLR2 Yes No Ensembl:ENSG00000196233, GeneCard:LCOR, HGNC:HGNC:29503, NCBI Gene:84458, OMIM:607698, RefSeq DNA:NT_030059, RefSeq Protein:NP_001164236, RefSeq Protein:NP_001164237, RefSeq Protein:NP_115816, RefSeq RNA:NM_001170765, RefSeq RNA:NM_001170766, RefSeq RNA:NM_032440, UniProtKB:Q96JN0 No chr10 98592017 98724198 96832250 96964441 +PA145148507 254251 HGNC:30776 ENSG00000178177 ligand dependent nuclear receptor corepressor like LCORL ligand dependent nuclear receptor corepressor-like FLJ30696, MLR1 Yes No Ensembl:ENSG00000178177, GeneCard:LCORL, HGNC:HGNC:30776, NCBI Gene:254251, OMIM:611799, OMIM:612226, RefSeq DNA:NG_015822, RefSeq DNA:NT_006316, RefSeq Protein:NP_001159611, RefSeq Protein:NP_710153, RefSeq RNA:NM_001166139, RefSeq RNA:NM_153686, UniProtKB:Q8N3X6 No chr4 17844839 18023483 17841199 18023287 +PA30312 3936 HGNC:6528 ENSG00000136167 lymphocyte cytosolic protein 1 LCP1 lymphocyte cytosolic protein 1 (L-plastin), plastin 2 CP64, L-PLASTIN, LC64P, PLS2 Yes No Comparative Toxicogenomics Database:3936, Ensembl:ENSG00000136167, GenAtlas:LCP1, GeneCard:LCP1, HGNC:HGNC:6528, HumanCyc Gene:HS06127, ModBase:P13796, NCBI Gene:3936, OMIM:153430, RefSeq DNA:NT_024524, RefSeq Protein:NP_002289, RefSeq RNA:NM_002298, UCSC Genome Browser:NM_002298, UniProtKB:P13796 No chr13 46700058 46756459 46125923 46182324 +PA30313 3937 HGNC:6529 ENSG00000043462 lymphocyte cytosolic protein 2 LCP2 76 kDa tyrosine phosphoprotein, SH2 domain-containing leukocyte protein of 76kD, lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) SLP-76, SLP76 Yes No Comparative Toxicogenomics Database:3937, Ensembl:ENSG00000043462, GenAtlas:LCP2, GeneCard:LCP2, HGNC:HGNC:6529, HumanCyc Gene:HS00570, ModBase:Q13094, NCBI Gene:3937, OMIM:601603, RefSeq DNA:NT_023133, RefSeq Protein:NP_005556, RefSeq RNA:NM_005565, UCSC Genome Browser:NM_005565, UniProtKB:Q13094 No chr5 169675088 169724822 170248084 170297818 +PA30315 3938 HGNC:6530 ENSG00000115850 lactase LCT Yes No Comparative Toxicogenomics Database:3938, Ensembl:ENSG00000115850, GenAtlas:LCT, GeneCard:LCT, HGNC:HGNC:6530, HumanCyc Gene:HS03945, ModBase:P09848, NCBI Gene:3938, OMIM:223000, OMIM:223100, OMIM:603202, RefSeq DNA:NG_008104, RefSeq DNA:NT_022135, RefSeq Protein:NP_002290, RefSeq RNA:NM_002299, UCSC Genome Browser:NM_002299, UniProtKB:P09848, UniProtKB:Q4ZG58 No chr2 136545415 136594750 135787840 135837200 +PA142671560 197021 HGNC:15583 ENSG00000188501 lactase like LCTL KL lactase phlorizin hydrolase, gammaklotho, klotho gamma, lactase-like FLJ33279, KLG, KLPH Yes No Ensembl:ENSG00000188501, GeneCard:LCTL, HGNC:HGNC:15583, ModBase:Q6UWM7, NCBI Gene:197021, RefSeq DNA:NT_010194, RefSeq Protein:NP_997221, RefSeq RNA:NM_207338, UniProtKB:B3KQY0, UniProtKB:Q6UWM7 No chr15 66839806 66858317 66547468 66566025 +PA166351936 57146 HGNC:30136 lipid droplet assembly factor 1 LDAF1 TMEM159, promethin Yes No HGNC:HGNC:30136, NCBI Gene:57146 No 0 0 0 0 +PA147358698 60526 HGNC:26145 ENSG00000118961 lipid droplet associated hydrolase LDAH chromosome 2 open reading frame 43 C2orf43, FLJ21820 Yes No Ensembl:ENSG00000118961, GeneCard:C2orf43, HGNC:HGNC:26145, HumanCyc Gene:HS04264, ModBase:Q9H6V9, NCBI Gene:60526, RefSeq DNA:NT_015926, RefSeq Protein:NP_068744, RefSeq RNA:NM_021925, UniProtKB:Q9H6V9 No chr2 20883788 21022890 20682489 20823139 +PA30316 8861 HGNC:6532 ENSG00000198728 LIM domain binding 1 LDB1 carboxy terminal LIM domain protein 2 CLIM2, NLI Yes No Comparative Toxicogenomics Database:8861, Ensembl:ENSG00000198728, GenAtlas:LDB1, GeneCard:LDB1, HGNC:HGNC:6532, NCBI Gene:8861, OMIM:603451, RefSeq DNA:NT_030059, RefSeq Protein:NP_001106878, RefSeq Protein:NP_003884, RefSeq RNA:NM_001113407, RefSeq RNA:NM_003893, UCSC Genome Browser:NM_003893, UniProtKB:Q86U70 No chr10 103866315 103880210 102102100 102120473 +PA30317 9079 HGNC:6533 ENSG00000169744 LIM domain binding 2 LDB2 CLIM1, LDB1 Yes No Comparative Toxicogenomics Database:9079, Ensembl:ENSG00000169744, GenAtlas:LDB2, GeneCard:LDB2, HGNC:HGNC:6533, HumanCyc Gene:HS10001, ModBase:O43679, NCBI Gene:9079, OMIM:603450, RefSeq DNA:NT_006316, RefSeq Protein:NP_001124306, RefSeq Protein:NP_001281, RefSeq RNA:NM_001130834, RefSeq RNA:NM_001290, UCSC Genome Browser:NM_001290, UniProtKB:O43679 No chr4 16503164 16900424 16501534 16898809 +PA30318 11155 HGNC:15710 ENSG00000122367 LIM domain binding 3 LDB3 Z-band alternatively spliced PDZ motif protein, cypher, oracle CMD1C, KIAA0613, PDLIM6, ZASP Yes No Comparative Toxicogenomics Database:11155, Ensembl:ENSG00000122367, GenAtlas:LDB3, GeneCard:LDB3, HGNC:HGNC:15710, HumanCyc Gene:HS04564, ModBase:Q9Y4Z5, NCBI Gene:11155, OMIM:601493, OMIM:605906, OMIM:609452, RefSeq DNA:NG_008876, RefSeq DNA:NT_030059, RefSeq Protein:NP_001073583, RefSeq Protein:NP_001073584, RefSeq Protein:NP_001073585, RefSeq Protein:NP_001165081, RefSeq Protein:NP_001165082, RefSeq Protein:NP_009009, RefSeq RNA:NM_001080114, RefSeq RNA:NM_001080115, RefSeq RNA:NM_001080116, RefSeq RNA:NM_001171610, RefSeq RNA:NM_001171611, RefSeq RNA:NM_007078, UniProtKB:B4E3K3, UniProtKB:O75112 No chr10 88426542 88495829 86664785 86736072 +PA30319 3939 HGNC:6535 ENSG00000134333 lactate dehydrogenase A LDHA Yes No Comparative Toxicogenomics Database:3939, Ensembl:ENSG00000134333, GenAtlas:LDHA, GeneCard:LDHA, HGNC:HGNC:6535, HumanCyc Gene:HS05858, ModBase:P00338, NCBI Gene:3939, OMIM:150000, OMIM:612933, RefSeq DNA:NG_008185, RefSeq DNA:NT_009237, RefSeq Protein:NP_001128711, RefSeq Protein:NP_001158886, RefSeq Protein:NP_001158887, RefSeq Protein:NP_001158888, RefSeq Protein:NP_005557, RefSeq RNA:NM_001135239, RefSeq RNA:NM_001165414, RefSeq RNA:NM_001165415, RefSeq RNA:NM_001165416, RefSeq RNA:NM_005566, RefSeq RNA:NR_028500, UCSC Genome Browser:NM_005566, UniProtKB:A8MXQ4, UniProtKB:B4DKQ2, UniProtKB:B7Z5E3, UniProtKB:D3YTI4, UniProtKB:P00338 No chr11 18415936 18429765 18394389 18408218 +PA134950539 160287 HGNC:28335 ENSG00000166800 lactate dehydrogenase A like 6A LDHAL6A lactate dehydrogenase A-like 6A LDH6A, MGC23940 Yes No Ensembl:ENSG00000166800, GeneCard:LDHAL6A, HGNC:HGNC:28335, HumanCyc Gene:HS09454, ModBase:Q6ZMR3, NCBI Gene:160287, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137543, RefSeq Protein:NP_659409, RefSeq RNA:NM_001144071, RefSeq RNA:NM_144972, UniProtKB:Q6ZMR3 No chr11 18477374 18501814 18455827 18479600 +PA134943157 92483 HGNC:21481 ENSG00000171989 lactate dehydrogenase A like 6B LDHAL6B lactate dehydrogenase A-like 6B LDH6B, LDHAL6, LDHL Yes No Ensembl:ENSG00000171989, GeneCard:LDHAL6B, HGNC:HGNC:21481, HumanCyc Gene:HS10427, ModBase:Q9BYZ2, NCBI Gene:92483, RefSeq DNA:NT_010194, RefSeq Protein:NP_149972, RefSeq RNA:NM_033195, UniProtKB:Q9BYZ2 No chr15 59499015 59500787 59206816 59208588 +PA30320 3940 HGNC:6536 ENSG00000251587 lactate dehydrogenase A pseudogene 1 LDHAP1 Yes No Ensembl:ENSG00000251587, GenAtlas:LDHAL1, GeneCard:LDHAP1, HGNC:HGNC:6536, NCBI Gene:3940, RefSeq DNA:NG_003016, RefSeq DNA:NT_006051 No chr4 4895351 4896995 4893624 4895268 +PA30321 100190799 HGNC:6537 ENSG00000235674 lactate dehydrogenase A pseudogene 2 LDHAP2 Yes No Ensembl:ENSG00000235674, GenAtlas:LDHAL2, GeneCard:LDHAP2, HGNC:HGNC:6537, NCBI Gene:100190799, RefSeq DNA:NG_008633, RefSeq DNA:NT_167186 No chr1 235901195 235902909 235737895 235739609 +PA30322 442013 HGNC:6538 ENSG00000236090 lactate dehydrogenase A pseudogene 3 LDHAP3 Yes No Ensembl:ENSG00000236090, GenAtlas:LDHAL3, GeneCard:LDHAP3, HGNC:HGNC:6538, NCBI Gene:442013, RefSeq DNA:NG_009318, RefSeq DNA:NT_022184 No chr2 42046788 42048789 41819648 41821649 +PA30323 158222 HGNC:6539 ENSG00000214110 lactate dehydrogenase A pseudogene 4 LDHAP4 Yes No Ensembl:ENSG00000214110, GenAtlas:LDHAL4, GeneCard:LDHAP4, HGNC:HGNC:6539, NCBI Gene:158222, RefSeq DNA:NG_001313, RefSeq DNA:NT_008413 No chr9 14920687 14922431 14920689 14922433 +PA30324 729666 HGNC:6540 ENSG00000213574 lactate dehydrogenase A pseudogene 5 LDHAP5 Yes No Ensembl:ENSG00000213574, GenAtlas:LDHAL5, GeneCard:LDHAP5, HGNC:HGNC:6540, NCBI Gene:729666, RefSeq DNA:NG_008632, RefSeq DNA:NT_030059 No chr10 120691608 120692795 118932096 118933283 +PA134987114 100190800 HGNC:23144 ENSG00000235847 lactate dehydrogenase A pseudogene 7 LDHAP7 Yes No Ensembl:ENSG00000235847, GeneCard:LDHAP7, HGNC:HGNC:23144, NCBI Gene:100190800, RefSeq DNA:NG_008634, RefSeq DNA:NT_022184 No chr2 85003113 85005443 84775989 84778319 +PA30325 3945 HGNC:6541 ENSG00000111716 lactate dehydrogenase B LDHB Yes No Comparative Toxicogenomics Database:3945, Ensembl:ENSG00000111716, GenAtlas:LDHB, GeneCard:LDHB, HGNC:HGNC:6541, HumanCyc Gene:HS03452, ModBase:P07195, NCBI Gene:3945, OMIM:150100, RefSeq DNA:NG_017038, RefSeq DNA:NT_009714, RefSeq Protein:NP_001167568, RefSeq Protein:NP_002291, RefSeq RNA:NM_001174097, RefSeq RNA:NM_002300, UCSC Genome Browser:NM_002300, UniProtKB:P07195, UniProtKB:Q5U077 No chr12 21788275 21810789 21635342 21657971 +PA30326 100289475 HGNC:6542 ENSG00000232662 lactate dehydrogenase B pseudogene 1 LDHBP1 Yes No Ensembl:ENSG00000232662, GenAtlas:LDHBL1, GeneCard:LDHBP1, HGNC:HGNC:6542, NCBI Gene:100289475, RefSeq DNA:NG_021974, RefSeq DNA:NT_027140 No chr13 113930989 113932046 113276539 113277931 +PA30327 3947 HGNC:6543 ENSG00000213684 lactate dehydrogenase B pseudogene 2 LDHBP2 Yes No Ensembl:ENSG00000213684, GenAtlas:LDHBP, GeneCard:LDHBP2, HGNC:HGNC:6543, NCBI Gene:3947, RefSeq DNA:NG_001155, RefSeq DNA:NT_011669 No chrX 75555042 75556309 76334643 76335910 +PA30328 3948 HGNC:6544 ENSG00000166796 lactate dehydrogenase C LDHC cancer/testis antigen 32 CT32 Yes No Comparative Toxicogenomics Database:3948, Ensembl:ENSG00000166796, GenAtlas:LDHC, GeneCard:LDHC, HGNC:HGNC:6544, HumanCyc Gene:HS09453, ModBase:P07864, NCBI Gene:3948, OMIM:150150, RefSeq DNA:NG_011816, RefSeq DNA:NT_009237, RefSeq Protein:NP_002292, RefSeq Protein:NP_059144, RefSeq RNA:NM_002301, RefSeq RNA:NM_017448, UCSC Genome Browser:NM_002301, UniProtKB:P07864 No chr11 18433851 18472798 18412298 18451246 +PA134917525 197257 HGNC:19708 ENSG00000166816 lactate dehydrogenase D LDHD D-lactate dehydrogenase Yes No Comparative Toxicogenomics Database:197257, Ensembl:ENSG00000166816, GeneCard:LDHD, HGNC:HGNC:19708, HumanCyc Gene:HS15490, ModBase:Q86WU2, NCBI Gene:197257, OMIM:607490, RefSeq DNA:NT_010498, RefSeq Protein:NP_705690, RefSeq Protein:NP_919417, RefSeq RNA:NM_153486, RefSeq RNA:NM_194436, UniProtKB:Q86WU2 No chr16 75145758 75150670 75111860 75116772 +PA227 3949 HGNC:6547 ENSG00000130164 low density lipoprotein receptor LDLR familial hypercholesterolemia LDLCQ2 Yes Yes Comparative Toxicogenomics Database:3949, Ensembl:ENSG00000130164, GenAtlas:LDLR, GeneCard:LDLR, HGNC:HGNC:6547, HumanCyc Gene:HS05344, ModBase:P01130, NCBI Gene:3949, OMIM:143890, OMIM:606945, RefSeq DNA:NG_009060, RefSeq DNA:NT_011295, RefSeq Protein:NP_000518, RefSeq Protein:NP_001182727, RefSeq Protein:NP_001182728, RefSeq Protein:NP_001182729, RefSeq Protein:NP_001182731, RefSeq Protein:NP_001182732, RefSeq RNA:NM_000527, RefSeq RNA:NM_001195798, RefSeq RNA:NM_001195799, RefSeq RNA:NM_001195800, RefSeq RNA:NM_001195802, RefSeq RNA:NM_001195803, UCSC Genome Browser:NM_000527, UniProtKB:P01130, UniProtKB:Q59FQ1 No chr19 11200037 11244506 11089362 11133830 +PA142671554 388633 HGNC:32069 ENSG00000203985 low density lipoprotein receptor class A domain containing 1 LDLRAD1 Yes No Ensembl:ENSG00000203985, GeneCard:LDLRAD1, HGNC:HGNC:32069, ModBase:Q5T700, NCBI Gene:388633, RefSeq DNA:NT_032977, RefSeq Protein:NP_001010978, RefSeq RNA:NM_001010978, UniProtKB:Q5T700 No chr1 54472971 54483859 54007298 54018186 +PA142671555 401944 HGNC:32071 ENSG00000187942 low density lipoprotein receptor class A domain containing 2 LDLRAD2 Yes No Ensembl:ENSG00000187942, GeneCard:LDLRAD2, HGNC:HGNC:32071, ModBase:Q5SZI1, NCBI Gene:401944, RefSeq DNA:NT_004610, RefSeq Protein:NP_001013715, RefSeq RNA:NM_001013693, UniProtKB:Q5SZI1 No chr1 22138758 22151714 21812209 21825221 +PA142671556 143458 HGNC:27046 ENSG00000179241 low density lipoprotein receptor class A domain containing 3 LDLRAD3 LRAD3 Yes No Ensembl:ENSG00000179241, GeneCard:LDLRAD3, HGNC:HGNC:27046, NCBI Gene:143458, RefSeq DNA:NT_009237, RefSeq Protein:NP_777562, RefSeq RNA:NM_174902, UniProtKB:Q86YD5 No chr11 35965537 36253688 35943981 36232136 +PA25593 753 HGNC:1224 ENSG00000168675 low density lipoprotein receptor class A domain containing 4 LDLRAD4 clone 22 C18orf1 Yes No Comparative Toxicogenomics Database:753, Ensembl:ENSG00000168675, GenAtlas:C18orf1, GeneCard:C18orf1, HGNC:HGNC:1224, HumanCyc Gene:HS09802, ModBase:O15165, NCBI Gene:753, OMIM:606571, RefSeq DNA:NT_010859, RefSeq Protein:NP_001003674, RefSeq Protein:NP_001003675, RefSeq Protein:NP_004329, RefSeq Protein:NP_852146, RefSeq Protein:NP_852147, RefSeq Protein:NP_852148, RefSeq RNA:NM_001003674, RefSeq RNA:NM_001003675, RefSeq RNA:NM_004338, RefSeq RNA:NM_181481, RefSeq RNA:NM_181482, RefSeq RNA:NM_181483, UCSC Genome Browser:NM_004338, UniProtKB:B3KNT9, UniProtKB:O15165 No chr18 13218729 13652753 13217691 13652754 +PA128394641 26119 HGNC:18640 ENSG00000157978 low density lipoprotein receptor adaptor protein 1 LDLRAP1 autosomal recessive hypercholesterolemia ARH, ARH2, DKFZp586D0624, FHCB1, FHCB2, MGC34705 Yes No Comparative Toxicogenomics Database:26119, Ensembl:ENSG00000157978, GeneCard:LDLRAP1, HGNC:HGNC:18640, HumanCyc Gene:HS14687, ModBase:Q5SW96, NCBI Gene:26119, OMIM:603813, OMIM:605747, RefSeq DNA:NG_008932, RefSeq DNA:NT_004610, RefSeq Protein:NP_056442, RefSeq RNA:NM_015627, UCSC Genome Browser:NM_015627, UniProtKB:B3KR97, UniProtKB:Q5SW96 No chr1 25870071 25895377 25543580 25590400 +PA30329 23641 HGNC:6548 ENSG00000182195 LDOC1 regulator of NFKB signaling LDOC1 """LDOC1, regulator of NFKB signaling"", ""Sushi-Ichi retrotransposon homolog 7"", ""leucine zipper, down-regulated in cancer 1"", ""mammalian retrotransposon-derived 7"", ""retrotransposon Gag like 7""" BCUR1, Mar7, Mart7, RTL7, SIRH7 Yes No Comparative Toxicogenomics Database:23641, Ensembl:ENSG00000182195, GenAtlas:LDOC1, GeneCard:LDOC1, HGNC:HGNC:6548, NCBI Gene:23641, OMIM:300402, RefSeq DNA:NT_011786, RefSeq Protein:NP_036449, RefSeq RNA:NM_012317, UCSC Genome Browser:NM_012317, UniProtKB:O95751 No chrX 140269930 140271310 141175745 141177214 +PA162393840 116842 HGNC:29571 ENSG00000164406 liver enriched antimicrobial peptide 2 LEAP2 liver expressed antimicrobial peptide 2 LEAP-2 Yes No Ensembl:ENSG00000164406, GeneCard:LEAP2, HGNC:HGNC:29571, HumanCyc Gene:HS09078, NCBI Gene:116842, OMIM:611373, RefSeq DNA:NT_034772, RefSeq Protein:NP_443203, RefSeq RNA:NM_052971, UniProtKB:Q969E1 No chr5 132209358 132210582 132873666 132874890 +PA30330 3950 HGNC:6550 ENSG00000145826 leukocyte cell derived chemotaxin 2 LECT2 leukocyte cell-derived chemotaxin 2 chm-II, chm2 Yes Yes Comparative Toxicogenomics Database:3950, Ensembl:ENSG00000145826, GenAtlas:LECT2, GeneCard:LECT2, HGNC:HGNC:6550, HumanCyc Gene:HS07290, NCBI Gene:3950, OMIM:602882, RefSeq DNA:NT_034772, RefSeq Protein:NP_002293, RefSeq RNA:NM_002302, UCSC Genome Browser:NM_002302, UniProtKB:O14960 No chr5 135282600 135290723 135946911 135955034 +PA30331 51176 HGNC:6551 ENSG00000138795 lymphoid enhancer binding factor 1 LEF1 lymphoid enhancer-binding factor 1 TCF10, TCF1ALPHA, TCF7L3 Yes No Comparative Toxicogenomics Database:51176, Ensembl:ENSG00000138795, GenAtlas:LEF1, GeneCard:LEF1, HGNC:HGNC:6551, HumanCyc Gene:HS06562, ModBase:Q9UJU2, NCBI Gene:51176, OMIM:153245, RefSeq DNA:NG_015798, RefSeq DNA:NT_016354, RefSeq Protein:NP_001124185, RefSeq Protein:NP_001124186, RefSeq Protein:NP_001159591, RefSeq Protein:NP_057353, RefSeq RNA:NM_001130713, RefSeq RNA:NM_001130714, RefSeq RNA:NM_001166119, RefSeq RNA:NM_016269, UCSC Genome Browser:NM_016269, UniProtKB:B4DG38, UniProtKB:B7Z8E2, UniProtKB:Q3ZCU4, UniProtKB:Q659G9, UniProtKB:Q9UJU2 No chr4 108968701 109090112 108047545 108168956 +PA30332 10637 HGNC:6552 ENSG00000243709 left-right determination factor 1 LEFTY1 LEFTB, LEFTYB Yes No Comparative Toxicogenomics Database:10637, Ensembl:ENSG00000243709, GenAtlas:LEFTY1, GeneCard:LEFTY1, HGNC:HGNC:6552, ModBase:O75610, NCBI Gene:10637, OMIM:603037, RefSeq DNA:NT_167186, RefSeq Protein:NP_066277, RefSeq RNA:NM_020997, UCSC Genome Browser:NM_020997, UniProtKB:O75610 No chr1 226073982 226076846 225886282 225889146 +PA27580 7044 HGNC:3122 ENSG00000143768 left-right determination factor 2 LEFTY2 transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A) EBAF, LEFTA, LEFTYA, TGFB4 Yes No Comparative Toxicogenomics Database:7044, Ensembl:ENSG00000143768, GenAtlas:LEFTY2, GeneCard:LEFTY2, HGNC:HGNC:3122, HumanCyc Gene:HS07101, ModBase:O00292, NCBI Gene:7044, OMIM:601877, RefSeq DNA:NG_008118, RefSeq DNA:NT_167186, RefSeq Protein:NP_001165896, RefSeq Protein:NP_003231, RefSeq RNA:NM_001172425, RefSeq RNA:NM_003240, UCSC Genome Browser:NM_003240, UniProtKB:B4E332, UniProtKB:O00292 No chr1 226124298 226129083 225936598 225941383 +PA162393851 389170 HGNC:33765 ENSG00000197980 leucine, glutamate and lysine rich 1 LEKR1 FLJ16641 Yes No Ensembl:ENSG00000197980, GeneCard:LEKR1, HGNC:HGNC:33765, ModBase:Q6ZMV7, NCBI Gene:389170, RefSeq DNA:NT_005612, RefSeq Protein:NP_001004316, RefSeq Protein:NP_001180212, RefSeq RNA:NM_001004316, RefSeq RNA:NM_001193283 No chr3 156543069 156763918 156825228 157047659 +PA142671557 149018 HGNC:32046 ENSG00000203784 late cornified envelope like proline rich 1 LELP1 late cornified envelope-like proline-rich 1 Yes No Comparative Toxicogenomics Database:149018, Ensembl:ENSG00000203784, GeneCard:LELP1, HGNC:HGNC:32046, ModBase:Q5T871, NCBI Gene:149018, OMIM:611042, RefSeq DNA:NT_004487, RefSeq Protein:NP_001010857, RefSeq RNA:NM_001010857, UniProtKB:Q5T871 No chr1 153175906 153177601 153203430 153205125 +PA38660 93273 HGNC:18725 ENSG00000186007 LEM domain containing 1 LEMD1 cancer/testis antigen 50 CT50, LEMP-1 Yes No Comparative Toxicogenomics Database:93273, Ensembl:ENSG00000186007, GenAtlas:LEMD1, GeneCard:LEMD1, HGNC:HGNC:18725, ModBase:Q68G75, NCBI Gene:93273, OMIM:610480, RefSeq DNA:NT_004487, RefSeq Protein:NP_001001552, RefSeq Protein:NP_001185979, RefSeq Protein:NP_001185980, RefSeq Protein:NP_001185981, RefSeq RNA:NM_001001552, RefSeq RNA:NM_001199050, RefSeq RNA:NM_001199051, RefSeq RNA:NM_001199052, RefSeq RNA:NR_037583, UniProtKB:Q68G75 No chr1 205350506 205391214 205381378 205449956 +PA134952135 221496 HGNC:21244 ENSG00000161904 LEM domain nuclear envelope protein 2 LEMD2 LEM domain containing 2, lamina-associated polypeptide-emerin-MAN1 domain containing 2 LEM2, NET25, dJ482C21.1 Yes No Ensembl:ENSG00000161904, GeneCard:LEMD2, HGNC:HGNC:21244, ModBase:Q8NC56, NCBI Gene:221496, RefSeq DNA:NT_007592, RefSeq Protein:NP_001137416, RefSeq Protein:NP_851853, RefSeq RNA:NM_001143944, RefSeq RNA:NM_181336, UniProtKB:Q8NC56 No chr6 33738990 33756906 33771213 33794274 +PA134907442 23592 HGNC:28887 ENSG00000174106 LEM domain containing 3 LEMD3 MAN antigen 1, inner nuclear membrane protein Man1 MAN1 Yes No Comparative Toxicogenomics Database:23592, Ensembl:ENSG00000174106, GeneCard:LEMD3, HGNC:HGNC:28887, HumanCyc Gene:HS10765, ModBase:Q9Y2U8, NCBI Gene:23592, OMIM:155950, OMIM:166700, OMIM:607844, RefSeq DNA:NG_016210, RefSeq DNA:NT_029419, RefSeq Protein:NP_001161086, RefSeq Protein:NP_055134, RefSeq RNA:NM_001167614, RefSeq RNA:NM_014319, UniProtKB:Q9Y2U8 No chr12 65563351 65642141 65169571 65248361 +PA30333 55891 HGNC:14429 ENSG00000163352 lens epithelial protein LENEP LEP503 Yes No Ensembl:ENSG00000163352, GenAtlas:LENEP, GeneCard:LENEP, HGNC:HGNC:14429, HumanCyc Gene:HS08835, NCBI Gene:55891, OMIM:607377, RefSeq DNA:NT_004487, RefSeq Protein:NP_061125, RefSeq RNA:NM_018655, UCSC Genome Browser:NM_018655, UniProtKB:Q9Y5L5 No chr1 154966062 154966791 154993586 154994315 +PA134904804 79165 HGNC:15502 ENSG00000105617 leukocyte receptor cluster member 1 LENG1 leukocyte receptor cluster (LRC) member 1 Yes No Comparative Toxicogenomics Database:79165, Ensembl:ENSG00000105617, GeneCard:LENG1, HGNC:HGNC:15502, HumanCyc Gene:HS12596, ModBase:Q96BZ8, NCBI Gene:79165, RefSeq DNA:NT_011109, RefSeq Protein:NP_077292, RefSeq RNA:NM_024316, UniProtKB:A9C4B2, UniProtKB:Q96BZ8 No chr19 54659377 54663446 54155639 54159743 +PA166351938 HGNC:16308 leukocyte receptor cluster (LRC) member 10 LENG10 Yes No HGNC:HGNC:16308 No 0 0 0 0 +PA166351939 HGNC:16307 leukocyte receptor cluster (LRC) member 11 LENG11 Yes No HGNC:HGNC:16307 No 0 0 0 0 +PA166351937 HGNC:15499 leukocyte receptor cluster (LRC) member 6 LENG6 Yes No HGNC:HGNC:15499 No 0 0 0 0 +PA134903953 114823 HGNC:15500 ENSG00000167615 leukocyte receptor cluster member 8 LENG8 leukocyte receptor cluster (LRC) member 8 KIAA1932, MGC40108, pp13842 Yes No Ensembl:ENSG00000167615, GeneCard:LENG8, HGNC:HGNC:15500, HumanCyc Gene:HS15574, NCBI Gene:114823, RefSeq DNA:NT_011109, RefSeq Protein:NP_443157, RefSeq RNA:NM_052925, UniProtKB:Q96PV6 No chr19 54959605 54973196 54448719 54462046 +PA134975056 94059 HGNC:16306 ENSG00000275183 leukocyte receptor cluster member 9 LENG9 leukocyte receptor cluster (LRC) member 9 Yes No Comparative Toxicogenomics Database:94059, Ensembl:ENSG00000275183, GeneCard:LENG9, HGNC:HGNC:16306, ModBase:Q96B70, NCBI Gene:94059, RefSeq DNA:NT_011109, RefSeq Protein:NP_945339, RefSeq RNA:NM_198988, UniProtKB:Q96B70 No chr19 54972976 54974894 54461796 54463711 +PA142671558 123169 HGNC:30401 ENSG00000166477 LEO1 homolog, Paf1/RNA polymerase II complex component LEO1 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) Yes No Ensembl:ENSG00000166477, GeneCard:LEO1, HGNC:HGNC:30401, HumanCyc Gene:HS15454, ModBase:Q8WVC0, NCBI Gene:123169, OMIM:610507, RefSeq DNA:NT_010194, RefSeq Protein:NP_620147, RefSeq RNA:NM_138792, UniProtKB:Q8WVC0 No chr15 52230222 52263995 51938024 51971801 +PA228 3952 HGNC:6553 ENSG00000174697 leptin LEP OB, OBS Yes Yes Comparative Toxicogenomics Database:3952, Ensembl:ENSG00000174697, GenAtlas:LEP, GeneCard:LEP, HGNC:HGNC:6553, HumanCyc Gene:HS10822, ModBase:P41159, NCBI Gene:3952, OMIM:164160, RefSeq DNA:NG_007450, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_000221, RefSeq RNA:NM_000230, UCSC Genome Browser:NM_000230, UniProtKB:A4D0Y8, UniProtKB:P41159 No chr7 127881241 127897682 128241201 128257629 +PA229 3953 HGNC:6554 ENSG00000116678 leptin receptor LEPR CD295, OBR Yes Yes Comparative Toxicogenomics Database:3953, Ensembl:ENSG00000116678, GenAtlas:LEPR, GeneCard:LEPR, HGNC:HGNC:6554, ModBase:P48357, NCBI Gene:3953, OMIM:601007, RefSeq DNA:NG_015831, RefSeq DNA:NT_032977, RefSeq Protein:NP_001003679, RefSeq Protein:NP_001003680, RefSeq Protein:NP_001185616, RefSeq Protein:NP_001185617, RefSeq Protein:NP_001185618, RefSeq Protein:NP_002294, RefSeq RNA:NM_001003679, RefSeq RNA:NM_001003680, RefSeq RNA:NM_001198687, RefSeq RNA:NM_001198688, RefSeq RNA:NM_001198689, RefSeq RNA:NM_002303, UCSC Genome Browser:NM_002303, UniProtKB:P48357 No chr1 65886335 66103176 65420652 65637493 +PA134913422 54741 HGNC:29477 ENSG00000213625 leptin receptor overlapping transcript LEPROT endospanin, endospanin-1, leptin receptor gene related protein FLJ90360, OB-RGRP, OBRGRP, VPS55 Yes Yes Comparative Toxicogenomics Database:54741, Ensembl:ENSG00000213625, GeneCard:LEPROT, HGNC:HGNC:29477, HumanCyc Gene:HS04033, NCBI Gene:54741, OMIM:613461, RefSeq DNA:NT_032977, RefSeq Protein:NP_001185610, RefSeq Protein:NP_001185612, RefSeq Protein:NP_059996, RefSeq RNA:NM_001198681, RefSeq RNA:NM_001198683, RefSeq RNA:NM_017526, UniProtKB:O15243, UniProtKB:Q6FHL5 No chr1 65886131 66107242 65420448 65436007 +PA30334 23484 HGNC:6555 ENSG00000104660 leptin receptor overlapping transcript like 1 LEPROTL1 endospanin-2, leptin receptor overlapping transcript-like 1 Vps55, my047 Yes No Comparative Toxicogenomics Database:23484, Ensembl:ENSG00000104660, GenAtlas:LEPROTL1, GeneCard:LEPROTL1, HGNC:HGNC:6555, HumanCyc Gene:HS02599, NCBI Gene:23484, OMIM:607338, RefSeq DNA:NT_167187, RefSeq Protein:NP_001121680, RefSeq Protein:NP_056159, RefSeq RNA:NM_001128208, RefSeq RNA:NM_015344, UCSC Genome Browser:NM_015344, UniProtKB:C9JVM4, UniProtKB:O95214, UniProtKB:Q6FHL7 No chr8 29952922 29995222 30095406 30137706 +PA30335 3954 HGNC:6556 ENSG00000168924 leucine zipper and EF-hand containing transmembrane protein 1 LETM1 Mdm38 homolog (yeast), leucine zipper-EF-hand containing transmembrane protein 1 Mdm38, SLC55A1 Yes No Comparative Toxicogenomics Database:3954, Ensembl:ENSG00000168924, GenAtlas:LETM1, GeneCard:LETM1, HGNC:HGNC:6556, HumanCyc Gene:HS09850, ModBase:O95202, NCBI Gene:3954, OMIM:604407, RefSeq DNA:NG_013063, RefSeq DNA:NT_006051, RefSeq Protein:NP_036450, RefSeq RNA:NM_012318, UCSC Genome Browser:NM_012318, UniProtKB:O95202 No chr4 1813206 1857974 1811479 1856247 +PA134887111 137994 HGNC:14648 ENSG00000165046 leucine zipper and EF-hand containing transmembrane protein 2 LETM2 leucine zipper-EF-hand containing transmembrane protein 2 FLJ25409, SLC55A2 Yes No Ensembl:ENSG00000165046, GeneCard:LETM2, HGNC:HGNC:14648, HumanCyc Gene:HS15277, NCBI Gene:137994, RefSeq DNA:NT_167187, RefSeq Protein:NP_001186588, RefSeq Protein:NP_001186589, RefSeq Protein:NP_653253, RefSeq RNA:NM_001199659, RefSeq RNA:NM_001199660, RefSeq RNA:NM_144652, UniProtKB:Q2VYF4 No chr8 38240041 38267045 38382505 38409527 +PA134914870 25875 HGNC:24241 ENSG00000050426 LETM1 domain containing 1 LETMD1 cervical cancer 1 protooncogene, human cervical cancer oncogene HCCR, HCCR-1, HCCR-2, HCCR1, HCCR2, SLC55A3 Yes No Comparative Toxicogenomics Database:25875, Ensembl:ENSG00000050426, GeneCard:LETMD1, HGNC:HGNC:24241, HumanCyc Gene:HS12122, NCBI Gene:25875, RefSeq DNA:NT_029419, RefSeq Protein:NP_001019839, RefSeq Protein:NP_056231, RefSeq RNA:NM_001024668, RefSeq RNA:NM_015416, UniProtKB:Q6P1Q0 No chr12 51442082 51454207 51048230 51068984 +PA162393884 342900 HGNC:31953 ENSG00000213921 leucine twenty homeobox LEUTX Yes No Ensembl:ENSG00000213921, GeneCard:LEUTX, HGNC:HGNC:31953, NCBI Gene:342900, RefSeq DNA:NT_011109, RefSeq Protein:NP_001137304, RefSeq RNA:NM_001143832 No chr19 40267234 40276775 39776594 39786135 +PA30336 3955 HGNC:6560 ENSG00000106003 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase LFNG SCDO3 Yes No Comparative Toxicogenomics Database:3955, Ensembl:ENSG00000106003, GenAtlas:LFNG, GeneCard:LFNG, HGNC:HGNC:6560, HumanCyc Gene:HS02845, ModBase:Q8NES3, NCBI Gene:3955, OMIM:602576, OMIM:609813, RefSeq DNA:NG_008109, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001035257, RefSeq Protein:NP_001035258, RefSeq Protein:NP_001159827, RefSeq Protein:NP_002295, RefSeq RNA:NM_001040167, RefSeq RNA:NM_001040168, RefSeq RNA:NM_001166355, RefSeq RNA:NM_002304, UniProtKB:B3KTY6, UniProtKB:B5MCR5, UniProtKB:Q8NES3 No chr7 2552163 2568811 2512529 2529177 +PA30337 3956 HGNC:6561 ENSG00000100097 galectin 1 LGALS1 """galectin 1"", ""lectin, galactoside-binding, soluble, 1""" GBP Yes No Comparative Toxicogenomics Database:3956, Ensembl:ENSG00000100097, GenAtlas:LGALS1, GeneCard:LGALS1, HGNC:HGNC:6561, HumanCyc Gene:HS01976, ModBase:P09382, NCBI Gene:3956, OMIM:150570, RefSeq DNA:NT_011520, RefSeq Protein:NP_002296, RefSeq RNA:NM_002305, UCSC Genome Browser:NM_002305, UniProtKB:P09382 No chr22 38071613 38075809 37675606 37679802 +PA30338 85329 HGNC:15788 ENSG00000133317 galectin 12 LGALS12 """galectin 12"", ""lectin, galactoside-binding, soluble, 12""" GRIP1 Yes No Ensembl:ENSG00000133317, GenAtlas:LGALS12, GeneCard:LGALS12, HGNC:HGNC:15788, HumanCyc Gene:HS05756, ModBase:Q96DT0, NCBI Gene:85329, OMIM:606096, RefSeq DNA:NT_167190, RefSeq Protein:NP_001136007, RefSeq Protein:NP_001136008, RefSeq Protein:NP_001136009, RefSeq Protein:NP_001136010, RefSeq Protein:NP_149092, RefSeq RNA:NM_001142535, RefSeq RNA:NM_001142536, RefSeq RNA:NM_001142537, RefSeq RNA:NM_001142538, RefSeq RNA:NM_033101, UCSC Genome Browser:NM_033101, UniProtKB:Q96DT0 No chr11 63273524 63284246 63506052 63516774 +PA134923011 29124 HGNC:15449 ENSG00000105198 galectin 13 LGALS13 """galectin 13"", ""lectin, galactoside-binding, soluble, 13""" PLAC8, PP13 Yes No Ensembl:ENSG00000105198, GeneCard:LGALS13, HGNC:HGNC:15449, HumanCyc Gene:HS02688, ModBase:Q9UHV8, NCBI Gene:29124, OMIM:608717, RefSeq DNA:NT_011109, RefSeq Protein:NP_037400, RefSeq RNA:NM_013268, UniProtKB:C5HZ15, UniProtKB:Q9UHV8 No chr19 40093169 40098114 39602411 39607474 +PA134882378 56891 HGNC:30054 ENSG00000006659 galectin 14 LGALS14 lectin, galactoside-binding, soluble, 14 CLC2, PPL13 Yes No Ensembl:ENSG00000006659, GeneCard:LGALS14, HGNC:HGNC:30054, HumanCyc Gene:HS00190, ModBase:Q8TCE9, NCBI Gene:56891, OMIM:607260, RefSeq DNA:NT_011109, RefSeq Protein:NP_064514, RefSeq Protein:NP_982297, RefSeq RNA:NM_020129, RefSeq RNA:NM_203471, UniProtKB:A8MPV8, UniProtKB:B2R530, UniProtKB:Q8TCE9 No chr19 40194946 40200088 39704306 39709448 +PA166049059 148003 HGNC:40039 ENSG00000249861 galectin 16 LGALS16 lectin, galactoside-binding, soluble, 16 Yes No Ensembl:ENSG00000249861, HGNC:HGNC:40039, NCBI Gene:148003 No chr19 40146558 40151287 39655894 39660647 +PA164741896 3957 HGNC:6562 ENSG00000100079 galectin 2 LGALS2 """galectin 2"", ""lectin, galactoside-binding, soluble, 2""" HL14 Yes No Ensembl:ENSG00000100079, GeneCard:LGALS2, HGNC:HGNC:6562, HumanCyc Gene:HS01971, ModBase:P05162, NCBI Gene:3957, OMIM:150571, RefSeq DNA:NG_012096, RefSeq DNA:NT_011520, RefSeq Protein:NP_006489, RefSeq RNA:NM_006498, UniProtKB:P05162 No chr22 37966253 37976024 37570246 37580017 +PA30340 3958 HGNC:6563 ENSG00000131981 galectin 3 LGALS3 """advanced glycation end-product receptor 3"", ""galectin 3"", ""lectin, galactoside-binding, soluble, 3""" GALIG, LGALS2, MAC-2 Yes Yes Comparative Toxicogenomics Database:3958, Ensembl:ENSG00000131981, GenAtlas:LGALS3, GeneCard:LGALS3, HGNC:HGNC:6563, HumanCyc Gene:HS05587, ModBase:P17931, NCBI Gene:3958, OMIM:153619, RefSeq DNA:NG_017089, RefSeq DNA:NT_026437, RefSeq Protein:NP_001170859, RefSeq Protein:NP_002297, RefSeq RNA:NM_001177388, RefSeq RNA:NM_002306, RefSeq RNA:NR_003225, UCSC Genome Browser:NM_002306, UniProtKB:P17931 No chr14 55595935 55612148 55129217 55145430 +PA30341 3959 HGNC:6564 ENSG00000108679 galectin 3 binding protein LGALS3BP """L3 antigen"", ""Mac-2-binding protein"", ""lectin, galactoside-binding, soluble, 3 binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)""" 90K, BTBD17B, CyCAP, M2BP, MAC-2-BP, TANGO10B, gp90 Yes No Comparative Toxicogenomics Database:3959, Ensembl:ENSG00000108679, GenAtlas:LGALS3BP, GeneCard:LGALS3BP, HGNC:HGNC:6564, HumanCyc Gene:HS03141, ModBase:Q08380, NCBI Gene:3959, OMIM:600626, RefSeq DNA:NT_010783, RefSeq Protein:NP_005558, RefSeq RNA:NM_005567, UCSC Genome Browser:NM_005567, UniProtKB:Q08380 No chr17 76967335 76976061 78971253 78979979 +PA30342 3960 HGNC:6565 ENSG00000171747 galectin 4 LGALS4 """galectin 4"", ""lectin, galactoside-binding, soluble, 4""" GAL4 Yes No Ensembl:ENSG00000171747, GenAtlas:LGALS4, GeneCard:LGALS4, HGNC:HGNC:6565, HumanCyc Gene:HS10373, ModBase:P56470, NCBI Gene:3960, OMIM:602518, RefSeq DNA:NT_011109, RefSeq Protein:NP_006140, RefSeq RNA:NM_006149, UCSC Genome Browser:NM_006149, UniProtKB:P56470, UniProtKB:Q6FHZ4 No chr19 39292311 39303740 38801671 38813544 +PA30345 3963 HGNC:6568 ENSG00000178934, ENSG00000205076 galectin 7 LGALS7 """galectin 7"", ""lectin, galactoside-binding, soluble, 7""" GAL7, LGALS7A, PIG1, TP53I1 Yes No Comparative Toxicogenomics Database:3963, Ensembl:ENSG00000178934, Ensembl:ENSG00000205076, GenAtlas:LGALS7, GeneCard:LGALS7, HGNC:HGNC:6568, HumanCyc Gene:HS11331, ModBase:P47929, NCBI Gene:3963, OMIM:600615, RefSeq DNA:NT_011109, RefSeq Protein:NP_002298, RefSeq RNA:NM_002307, UCSC Genome Browser:NM_002307 No chr19 39261608 39264157 38770968 38773517 +PA162393892 653499 HGNC:34447 ENSG00000178934, ENSG00000205076 galectin 7B LGALS7B """galectin 7B"", ""lectin, galactoside-binding, soluble, 7B""" GAL7 Yes No Ensembl:ENSG00000178934, Ensembl:ENSG00000205076, GeneCard:LGALS7B, HGNC:HGNC:34447, NCBI Gene:653499, RefSeq DNA:NT_011109, RefSeq Protein:NP_001035972, RefSeq RNA:NM_001042507, UniProtKB:P47929 No chr19 39279850 39282394 38789210 38791754 +PA30346 3964 HGNC:6569 ENSG00000116977 galectin 8 LGALS8 """galectin 8"", ""lectin, galactoside-binding, soluble, 8""" PCTA-1 Yes No Comparative Toxicogenomics Database:3964, Ensembl:ENSG00000116977, GenAtlas:LGALS8, GeneCard:LGALS8, HGNC:HGNC:6569, HumanCyc Gene:HS04073, NCBI Gene:3964, OMIM:606099, RefSeq DNA:NT_167186, RefSeq Protein:NP_006490, RefSeq Protein:NP_963837, RefSeq Protein:NP_963838, RefSeq Protein:NP_963839, RefSeq RNA:NM_006499, RefSeq RNA:NM_201543, RefSeq RNA:NM_201544, RefSeq RNA:NM_201545, UCSC Genome Browser:NM_006499, UniProtKB:O00214 No chr1 236681514 236716281 236518214 236552981 +PA30347 3965 HGNC:6570 ENSG00000168961 galectin 9 LGALS9 """galectin 9"", ""lectin, galactoside-binding, soluble, 9""" LGALS9A Yes No Comparative Toxicogenomics Database:3965, Ensembl:ENSG00000168961, GenAtlas:LGALS9, GeneCard:LGALS9, HGNC:HGNC:6570, HumanCyc Gene:HS09858, ModBase:O00182, NCBI Gene:3965, OMIM:601879, RefSeq DNA:NT_010799, RefSeq Protein:NP_002299, RefSeq Protein:NP_033665, RefSeq RNA:NM_002308, RefSeq RNA:NM_009587, RefSeq RNA:NR_024043, UCSC Genome Browser:NM_002308, UniProtKB:A7VJG6, UniProtKB:O00182, UniProtKB:Q3B8N1 No chr17 25958174 25976586 27631148 27649560 +PA162393903 284194 HGNC:24842 ENSG00000170298 galectin 9B LGALS9B lectin, galactoside-binding, soluble, 9B Yes No Ensembl:ENSG00000170298, GeneCard:LGALS9B, HGNC:HGNC:24842, NCBI Gene:284194, RefSeq DNA:NT_010718, RefSeq Protein:NP_001036150, RefSeq RNA:NM_001042685, UniProtKB:Q3B8N2 No chr17 20352708 20370848 20449863 20467535 +PA162393930 654346 HGNC:33874 ENSG00000171916 galectin 9C LGALS9C lectin, galactoside-binding, soluble, 9C Yes No Ensembl:ENSG00000171916, GeneCard:LGALS9C, HGNC:HGNC:33874, ModBase:Q6DKI2, NCBI Gene:654346, RefSeq DNA:NT_010718, RefSeq Protein:NP_001035167, RefSeq RNA:NM_001040078, UniProtKB:Q6DKI2 No chr17 18380099 18398259 18476785 18494945 +PA166048966 29094 HGNC:25012 ENSG00000119862 galectin like LGALSL """galectin-related protein"", ""lectin, galactoside-binding-like""" GRP, HSPC159 Yes No Ensembl:ENSG00000119862, HGNC:HGNC:25012, NCBI Gene:29094 No chr2 64681327 64688517 64454193 64461383 +PA30349 9211 HGNC:6572 ENSG00000108231 leucine rich glioma inactivated 1 LGI1 """Epitempin-1"", ""leucine-rich, glioma inactivated 1""" EPITEMPIN, EPT, ETL1, IB1099 Yes No Comparative Toxicogenomics Database:9211, Ensembl:ENSG00000108231, GenAtlas:LGI1, GeneCard:LGI1, HGNC:HGNC:6572, HumanCyc Gene:HS03072, ModBase:O95970, NCBI Gene:9211, OMIM:137800, OMIM:600512, OMIM:604619, RefSeq DNA:NG_011832, RefSeq DNA:NT_030059, RefSeq Protein:NP_005088, RefSeq RNA:NM_005097, UCSC Genome Browser:NM_005097, UniProtKB:O95970 No chr10 95517566 95557916 93757770 93798174 +PA38654 55203 HGNC:18710 ENSG00000153012 leucine rich repeat LGI family member 2 LGI2 leucine-rich repeat LGI family, member 2 FLJ10675, KIAA1916 Yes No Ensembl:ENSG00000153012, GenAtlas:LGI2, GeneCard:LGI2, HGNC:HGNC:18710, HumanCyc Gene:HS14452, ModBase:Q8N0V4, NCBI Gene:55203, OMIM:608301, RefSeq DNA:NT_006316, RefSeq Protein:NP_060646, RefSeq RNA:NM_018176, UCSC Genome Browser:NM_018176, UniProtKB:Q8N0V4 No chr4 25000471 25032414 24991960 25030792 +PA38655 203190 HGNC:18711 ENSG00000168481 leucine rich repeat LGI family member 3 LGI3 leucine-rich repeat LGI family, member 3 Yes No Ensembl:ENSG00000168481, GenAtlas:LGI3, GeneCard:LGI3, HGNC:HGNC:18711, HumanCyc Gene:HS09768, ModBase:Q8N145, NCBI Gene:203190, OMIM:608302, RefSeq DNA:NT_167187, RefSeq Protein:NP_644807, RefSeq RNA:NM_139278, UCSC Genome Browser:NM_139278, UniProtKB:Q8N145 No chr8 22004343 22014344 22146830 22156831 +PA38656 163175 HGNC:18712 ENSG00000153902 leucine rich repeat LGI family member 4 LGI4 leucine-rich repeat LGI family, member 4 Yes No Ensembl:ENSG00000153902, GenAtlas:LGI4, GeneCard:LGI4, HGNC:HGNC:18712, HumanCyc Gene:HS14493, ModBase:Q8N135, NCBI Gene:163175, OMIM:608303, RefSeq DNA:NT_011109, RefSeq Protein:NP_644813, RefSeq RNA:NM_139284, UCSC Genome Browser:NM_139284, UniProtKB:Q8N135 No chr19 35615417 35626178 35124513 35135274 +PA30354 5641 HGNC:9472 ENSG00000100600 legumain LGMN LGMN1, PRSC1 Yes No Comparative Toxicogenomics Database:5641, Ensembl:ENSG00000100600, GenAtlas:LGMN, GeneCard:LGMN, HGNC:HGNC:9472, HumanCyc Gene:HS02119, ModBase:Q99538, NCBI Gene:5641, OMIM:602620, RefSeq DNA:NT_026437, RefSeq Protein:NP_001008530, RefSeq Protein:NP_005597, RefSeq RNA:NM_001008530, RefSeq RNA:NM_005606, UCSC Genome Browser:NM_005606, UniProtKB:Q53XC6, UniProtKB:Q96CY7, UniProtKB:Q99538 No chr14 93170152 93215047 92703807 92748702 +PA134897956 122199 HGNC:23079 ENSG00000214269 legumain pseudogene 1 LGMNP1 Yes No Ensembl:ENSG00000214269, GeneCard:LGMNP1, HGNC:HGNC:23079, NCBI Gene:122199, RefSeq DNA:NG_001534, RefSeq DNA:NT_024524 No chr13 65531688 65533650 64957556 64959518 +PA28893 55366 HGNC:13299 ENSG00000205213 leucine rich repeat containing G protein-coupled receptor 4 LGR4 leucine-rich repeat containing G protein-coupled receptor 4 GPR48 Yes No Comparative Toxicogenomics Database:55366, Ensembl:ENSG00000205213, GenAtlas:LGR4, GeneCard:LGR4, HGNC:HGNC:13299, IUPHAR Receptor:147, ModBase:Q9BXB1, NCBI Gene:55366, OMIM:181500, OMIM:606666, RefSeq DNA:NT_009237, RefSeq Protein:NP_060960, RefSeq RNA:NM_018490, UCSC Genome Browser:NM_018490, UniProtKB:Q59ER8, UniProtKB:Q9BXB1 No chr11 27387508 27494338 27365961 27472787 +PA28894 8549 HGNC:4504 ENSG00000139292 leucine rich repeat containing G protein-coupled receptor 5 LGR5 leucine-rich repeat containing G protein-coupled receptor 5 FEX, GPR49, GPR67, HG38 Yes Yes Comparative Toxicogenomics Database:8549, Ensembl:ENSG00000139292, GenAtlas:LGR5, GeneCard:LGR5, HGNC:HGNC:4504, HumanCyc Gene:HS06605, IUPHAR Receptor:148, ModBase:O75473, NCBI Gene:8549, OMIM:606667, RefSeq DNA:NT_029419, RefSeq Protein:NP_003658, RefSeq RNA:NM_003667, UCSC Genome Browser:NM_003667, UniProtKB:O75473 No chr12 71832931 71980090 71439770 71586310 +PA134927114 59352 HGNC:19719 ENSG00000133067 leucine rich repeat containing G protein-coupled receptor 6 LGR6 leucine-rich repeat containing G protein-coupled receptor 6 FLJ14471 Yes No Ensembl:ENSG00000133067, GeneCard:LGR6, HGNC:HGNC:19719, IUPHAR Receptor:149, ModBase:Q9HBX8, NCBI Gene:59352, OMIM:606653, RefSeq DNA:NT_004487, RefSeq Protein:NP_001017403, RefSeq Protein:NP_001017404, RefSeq Protein:NP_067649, RefSeq RNA:NM_001017403, RefSeq RNA:NM_001017404, RefSeq RNA:NM_021636, UniProtKB:Q9HBX8 No chr1 202163118 202288889 202193990 202319761 +PA164722103 51557 HGNC:21016 ENSG00000146166 lengsin, lens protein with glutamine synthetase domain LGSN GLULD1, LGS Yes No Ensembl:ENSG00000146166, GeneCard:LGSN, HGNC:HGNC:21016, HumanCyc Gene:HS07330, ModBase:Q5TDP6, NCBI Gene:51557, OMIM:611470, RefSeq DNA:NT_007299, RefSeq Protein:NP_001137412, RefSeq Protein:NP_057655, RefSeq RNA:NM_001143940, RefSeq RNA:NM_016571, UniProtKB:Q5TDP6 No chr6 63985856 64029882 63275951 63567921 +PA30356 3972 HGNC:6584 ENSG00000104826 luteinizing hormone subunit beta LHB """interstitial cell stimulating hormone, beta chain"", ""luteinizing hormone beta polypeptide"", ""luteinizing hormone beta subunit"", ""lutropin, beta chain""" CGB4, LSH-B, hLHB Yes No Comparative Toxicogenomics Database:3972, Ensembl:ENSG00000104826, GenAtlas:LHB, GeneCard:LHB, HGNC:HGNC:6584, HumanCyc Gene:HS02628, ModBase:P01229, NCBI Gene:3972, OMIM:152780, RefSeq DNA:NG_000019, RefSeq DNA:NG_011464, RefSeq DNA:NT_011109, RefSeq Protein:NP_000885, RefSeq RNA:NM_000894, UCSC Genome Browser:NM_000894, UniProtKB:P01229 No chr19 49519237 49520350 49015980 49017090 +PA30357 3973 HGNC:6585 ENSG00000138039 luteinizing hormone/choriogonadotropin receptor LHCGR luteinizing hormone receptor HHG, LCGR, LGR2, LHR, ULG5 Yes No Comparative Toxicogenomics Database:3088, Comparative Toxicogenomics Database:3973, Ensembl:ENSG00000138039, GenAtlas:HHG, GenAtlas:LHCGR, GeneCard:HHG, GeneCard:LHCGR, HGNC:HGNC:6585, HumanCyc Gene:HS06441, IUPHAR Receptor:254, ModBase:P22888, NCBI Gene:3973, OMIM:152790, OMIM:176410, OMIM:238320, RefSeq DNA:NG_008193, RefSeq DNA:NT_022184, RefSeq Protein:NP_000224, RefSeq RNA:NM_000233, UCSC Genome Browser:NM_000233, UniProtKB:P22888 No chr2 48913913 48982880 48686774 48755741 +PA30359 340596 HGNC:6587 ENSG00000182508 LHFPL tetraspan subfamily member 1 LHFPL1 lipoma HMGIC fusion partner-like 1 Yes No Ensembl:ENSG00000182508, GenAtlas:LHFPL1, GeneCard:LHFPL1, HGNC:HGNC:6587, NCBI Gene:340596, OMIM:300566, RefSeq DNA:NG_012629, RefSeq DNA:NT_011651, RefSeq Protein:NP_835469, RefSeq RNA:NM_178175, UniProtKB:Q86WI0 No chrX 111873879 111923375 112630651 112680178 +PA30360 10184 HGNC:6588 ENSG00000145685 LHFPL tetraspan subfamily member 2 LHFPL2 lipoma HMGIC fusion partner-like 2 KIAA0206 Yes No Comparative Toxicogenomics Database:10184, Ensembl:ENSG00000145685, GenAtlas:LHFPL2, GeneCard:LHFPL2, HGNC:HGNC:6588, HumanCyc Gene:HS14101, NCBI Gene:10184, OMIM:609718, RefSeq DNA:NT_006713, RefSeq Protein:NP_005770, RefSeq RNA:NM_005779, UCSC Genome Browser:NM_005779, UniProtKB:Q6ZUX7 No chr5 77781038 77944648 78485215 78648895 +PA30361 375612 HGNC:6589 ENSG00000187416 LHFPL tetraspan subfamily member 3 LHFPL3 lipoma HMGIC fusion partner-like 3 LHFPL4 Yes Yes Ensembl:ENSG00000187416, GenAtlas:LHFPL3, GeneCard:LHFPL3, HGNC:HGNC:6589, NCBI Gene:375612, OMIM:609719, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_945351, RefSeq RNA:NM_199000, UniProtKB:A4D0Q5, UniProtKB:Q86UP9 No chr7 103969104 104549005 104328656 104908558 +PA166351940 375323 HGNC:29568 LHFPL tetraspan subfamily member 4 LHFPL4 GABAA receptor regulatory Lhfpl4 GARLH4 Yes No HGNC:HGNC:29568, NCBI Gene:375323 No 0 0 0 0 +PA134943389 222662 HGNC:21253 ENSG00000197753 LHFPL tetraspan subfamily member 5 LHFPL5 lipoma HMGIC fusion partner-like 5, tetraspan membrane protein of hair cell stereocilia DFNB67, MGC33835, Tmhs, dJ510O8.8 Yes No Comparative Toxicogenomics Database:222662, Ensembl:ENSG00000197753, GeneCard:LHFPL5, HGNC:HGNC:21253, NCBI Gene:222662, OMIM:609427, OMIM:610265, RefSeq DNA:NG_012184, RefSeq DNA:NT_007592, RefSeq Protein:NP_872354, RefSeq RNA:NM_182548, UniProtKB:B3KX66, UniProtKB:Q8TAF8 No chr6 35773071 35791852 35805294 35824075 +PA30358 10186 HGNC:6586 ENSG00000183722 LHFPL tetraspan subfamily member 6 LHFPL6 lipoma HMGIC fusion partner LHFP, MGC22429 Yes No Comparative Toxicogenomics Database:10186, Ensembl:ENSG00000183722, GenAtlas:LHFP, GeneCard:LHFP, HGNC:HGNC:6586, NCBI Gene:10186, OMIM:606710, RefSeq DNA:NT_024524, RefSeq Protein:NP_005771, RefSeq RNA:NM_005780, UCSC Genome Browser:NM_005780, UniProtKB:Q9Y693 No chr13 39917029 40177356 39342892 39603219 +PA166351941 255349 HGNC:33725 LHFPL tetraspan subfamily member 7 LHFPL7 TMEM211, bA9F11.1 Yes No HGNC:HGNC:33725, NCBI Gene:255349 No 0 0 0 0 +PA165548763 64077 HGNC:30042 ENSG00000107902 phospholysine phosphohistidine inorganic pyrophosphate phosphatase LHPP HDHD2B Yes No Ensembl:ENSG00000107902, GeneCard:LHPP, HGNC:HGNC:30042, HumanCyc Gene:HS03044, NCBI Gene:64077, RefSeq DNA:NT_030059, RefSeq Protein:NP_001161352, RefSeq Protein:NP_071409, RefSeq RNA:NM_001167880, RefSeq RNA:NM_022126, UniProtKB:B3KP20, UniProtKB:Q9H008 No chr10 126150341 126302710 124461772 124614141 +PA30364 3975 HGNC:6593 ENSG00000273706 LIM homeobox 1 LHX1 LIM/homeobox protein Lhx1 LIM-1, LIM1 Yes No Comparative Toxicogenomics Database:3975, Ensembl:ENSG00000273706, GenAtlas:LHX1, GeneCard:LHX1, HGNC:HGNC:6593, HumanCyc Gene:HS05595, ModBase:P48742, NCBI Gene:3975, OMIM:601999, RefSeq DNA:NT_010783, RefSeq Protein:NP_005559, RefSeq RNA:NM_005568, UCSC Genome Browser:NM_005568, UniProtKB:P48742 No chr17 35294772 35301915 36937475 36944615 +PA30365 9355 HGNC:6594 ENSG00000106689 LIM homeobox 2 LHX2 LIM/homeobox protein Lhx2 LH-2, hLhx2 Yes Yes Comparative Toxicogenomics Database:9355, Ensembl:ENSG00000106689, GenAtlas:LHX2, GeneCard:LHX2, HGNC:HGNC:6594, HumanCyc Gene:HS02943, ModBase:P50458, NCBI Gene:9355, OMIM:603759, RefSeq DNA:NT_008470, RefSeq Protein:NP_004780, RefSeq RNA:NM_004789, UCSC Genome Browser:NM_004789, UniProtKB:B3KNJ5, UniProtKB:P50458 No chr9 126773889 126795572 124011610 124033163 +PA30366 8022 HGNC:6595 ENSG00000107187 LIM homeobox 3 LHX3 Yes No Comparative Toxicogenomics Database:8022, Ensembl:ENSG00000107187, GenAtlas:LHX3, GeneCard:LHX3, HGNC:HGNC:6595, HumanCyc Gene:HS02979, ModBase:Q9UBR4, NCBI Gene:8022, OMIM:221750, OMIM:262600, OMIM:600577, RefSeq DNA:NG_008097, RefSeq DNA:NT_019501, RefSeq Protein:NP_055379, RefSeq Protein:NP_835258, RefSeq RNA:NM_014564, RefSeq RNA:NM_178138, UCSC Genome Browser:NM_014564, UniProtKB:Q9UBR4 No chr9 139088096 139096955 136196250 136205129 +PA134962876 89884 HGNC:21734 ENSG00000121454 LIM homeobox 4 LHX4 Gsh4 Yes No Comparative Toxicogenomics Database:89884, Ensembl:ENSG00000121454, GeneCard:LHX4, HGNC:HGNC:21734, HumanCyc Gene:HS04499, ModBase:Q969G2, NCBI Gene:89884, OMIM:262700, OMIM:602146, RefSeq DNA:NG_008081, RefSeq DNA:NT_004487, RefSeq Protein:NP_203129, RefSeq RNA:NM_033343, UniProtKB:Q969G2 No chr1 180199433 180244188 180228372 180278982 +PA30367 64211 HGNC:14216 ENSG00000089116 LIM homeobox 5 LHX5 LIM/homeobox protein Lhx5 Yes No Ensembl:ENSG00000089116, GenAtlas:LHX5, GeneCard:LHX5, HGNC:HGNC:14216, HumanCyc Gene:HS01633, ModBase:Q9H2C1, NCBI Gene:64211, OMIM:605992, RefSeq DNA:NT_009775, RefSeq Protein:NP_071758, RefSeq RNA:NM_022363, UCSC Genome Browser:NM_022363, UniProtKB:Q9H2C1 No chr12 113900694 113909877 113462889 113472072 +PA134949308 26468 HGNC:21735 ENSG00000106852 LIM homeobox 6 LHX6 LHX6.1, hLHX6 Yes No Comparative Toxicogenomics Database:26468, Ensembl:ENSG00000106852, GeneCard:LHX6, HGNC:HGNC:21735, HumanCyc Gene:HS02958, ModBase:Q9UPM6, NCBI Gene:26468, OMIM:608215, RefSeq DNA:NT_008470, RefSeq Protein:NP_001229262, RefSeq Protein:NP_001229263, RefSeq Protein:NP_001229264, RefSeq Protein:NP_055183, RefSeq Protein:NP_954629, RefSeq RNA:NM_001242333, RefSeq RNA:NM_001242334, RefSeq RNA:NM_001242335, RefSeq RNA:NM_014368, RefSeq RNA:NM_199160, UniProtKB:Q9UPM6 No chr9 124964856 124991166 122185626 122228893 +PA142671553 431707 HGNC:28838 ENSG00000162624 LIM homeobox 8 LHX8 LIM/homeobox protein Lhx8 Lhx7 Yes No Comparative Toxicogenomics Database:431707, Ensembl:ENSG00000162624, GeneCard:LHX8, HGNC:HGNC:28838, ModBase:Q68G74, NCBI Gene:431707, OMIM:604425, RefSeq DNA:NT_032977, RefSeq Protein:NP_001001933, RefSeq RNA:NM_001001933, UniProtKB:Q68G74 No chr1 75594119 75627218 75128434 75199454 +PA30368 56956 HGNC:14222 ENSG00000143355 LIM homeobox 9 LHX9 Yes No Ensembl:ENSG00000143355, GenAtlas:LHX9, GeneCard:LHX9, HGNC:HGNC:14222, HumanCyc Gene:HS07033, ModBase:Q9NQ69, NCBI Gene:56956, OMIM:606066, RefSeq DNA:NT_004487, RefSeq Protein:NP_001014434, RefSeq Protein:NP_064589, RefSeq RNA:NM_001014434, RefSeq RNA:NM_020204, UCSC Genome Browser:NM_020204, UniProtKB:Q9NQ69 No chr1 197881635 197904606 197912505 197935476 +PA30369 11019 HGNC:16429 ENSG00000121897 lipoic acid synthetase LIAS Lipoyl synthase, mitochondrial LAS Yes No Comparative Toxicogenomics Database:11019, Ensembl:ENSG00000121897, GenAtlas:LIAS, GeneCard:LIAS, HGNC:HGNC:16429, HumanCyc Gene:HS04528, ModBase:O43766, NCBI Gene:11019, OMIM:607031, RefSeq DNA:NT_016297, RefSeq Protein:NP_006850, RefSeq Protein:NP_919433, RefSeq RNA:NM_006859, RefSeq RNA:NM_194451, UCSC Genome Browser:NM_006859, UniProtKB:O43766 No chr4 39460644 39479273 39459022 39477653 +PA162378582 400566 HGNC:33800 ENSG00000187624 ligand of ATE1 LIAT1 chromosome 17 open reading frame 97, ligand of ATE1 C17orf97, LIAT1, LOC400566 Yes No Ensembl:ENSG00000187624, GeneCard:C17orf97, HGNC:HGNC:33800, NCBI Gene:400566, RefSeq DNA:NT_024972, RefSeq Protein:NP_001013694, RefSeq RNA:NM_001013672, UniProtKB:Q6ZQX7 No chr17 260118 264457 410327 414666 +PA30370 3976 HGNC:6596 ENSG00000128342 LIF interleukin 6 family cytokine LIF """LIF, interleukin 6 family cytokine"", ""cholinergic differentiation factor"", ""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""human interleukin in DA cells"", ""leukemia inhibitory factor""" CDF, DIA, HILDA Yes No Comparative Toxicogenomics Database:3976, Ensembl:ENSG00000128342, GenAtlas:LIF, GeneCard:LIF, HGNC:HGNC:6596, HumanCyc Gene:HS05184, ModBase:P15018, NCBI Gene:3976, OMIM:159540, RefSeq DNA:NG_008721, RefSeq DNA:NT_011520, RefSeq Protein:NP_002300, RefSeq RNA:NM_002309, UCSC Genome Browser:NM_002309, UniProtKB:P15018 No chr22 30636436 30642840 30240447 30246851 +PA30371 3977 HGNC:6597 ENSG00000113594 LIF receptor subunit alpha LIFR LIF receptor alpha, leukemia inhibitory factor receptor alpha CD118 Yes No Comparative Toxicogenomics Database:3977, Ensembl:ENSG00000113594, GenAtlas:LIFR, GeneCard:LIFR, HGNC:HGNC:6597, HumanCyc Gene:HS03699, ModBase:P42702, NCBI Gene:3977, OMIM:151443, OMIM:601559, RefSeq DNA:NG_011817, RefSeq DNA:NT_006576, RefSeq Protein:NP_001121143, RefSeq Protein:NP_002301, RefSeq RNA:NM_001127671, RefSeq RNA:NM_002310, UCSC Genome Browser:NM_002310, UniProtKB:A8K1Z4, UniProtKB:P42702 No chr5 38475065 38595507 38474963 38606290 +PA30372 3978 HGNC:6598 ENSG00000105486 DNA ligase 1 LIG1 """DNA ligase I"", ""ligase I, DNA, ATP-dependent""" LIGI, hLig1 Yes No Comparative Toxicogenomics Database:3978, Ensembl:ENSG00000105486, GenAtlas:LIG1, GeneCard:LIG1, HGNC:HGNC:6598, HumanCyc Gene:HS02747, ModBase:P18858, NCBI Gene:3978, OMIM:126391, RefSeq DNA:NG_007395, RefSeq DNA:NT_011109, RefSeq Protein:NP_000225, RefSeq RNA:NM_000234, UCSC Genome Browser:NM_000234, UniProtKB:P18858 No chr19 48618702 48673852 48115445 48170603 +PA30374 3980 HGNC:6600 ENSG00000005156 DNA ligase 3 LIG3 """DNA ligase III"", ""ligase III, DNA, ATP-dependent""" LIG2, LIG3alpha Yes Yes Comparative Toxicogenomics Database:3980, Ensembl:ENSG00000005156, GenAtlas:LIG3, GeneCard:LIG3, HGNC:HGNC:6600, HumanCyc Gene:HS00130, ModBase:P49916, NCBI Gene:3980, OMIM:600940, RefSeq DNA:NT_010799, RefSeq Protein:NP_002302, RefSeq Protein:NP_039269, RefSeq RNA:NM_002311, RefSeq RNA:NM_013975, UCSC Genome Browser:NM_002311, UniProtKB:P49916 No chr17 33307517 33332088 34980498 35009169 +PA30375 3981 HGNC:6601 ENSG00000174405 DNA ligase 4 LIG4 """DNA joinase"", ""DNA ligase IV"", ""DNA repair enzyme"", ""ligase IV, DNA, ATP-dependent"", ""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase""" Yes No Comparative Toxicogenomics Database:3981, Ensembl:ENSG00000174405, GenAtlas:LIG4, GeneCard:LIG4, HGNC:HGNC:6601, HumanCyc Gene:HS10794, ModBase:P49917, NCBI Gene:3981, OMIM:254500, OMIM:601837, OMIM:606593, RefSeq DNA:NG_007396, RefSeq DNA:NT_009952, RefSeq Protein:NP_001091738, RefSeq Protein:NP_002303, RefSeq Protein:NP_996820, RefSeq RNA:NM_001098268, RefSeq RNA:NM_002312, RefSeq RNA:NM_206937, UCSC Genome Browser:NM_002312, UniProtKB:P49917 No chr13 108859790 108870716 108207442 108218368 +PA30376 11024 HGNC:6602 ENSG00000104974 leukocyte immunoglobulin like receptor A1 LILRA1 """leucocyte Ig-like receptor A1"", ""leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1""" CD85i, LIR-6, LIR6 Yes No Comparative Toxicogenomics Database:11024, Ensembl:ENSG00000104974, GenAtlas:LILRA1, GeneCard:LILRA1, HGNC:HGNC:6602, HumanCyc Gene:HS02667, ModBase:O75019, NCBI Gene:11024, OMIM:604810, RefSeq DNA:NT_011109, RefSeq Protein:NP_006854, RefSeq RNA:NM_006863, UCSC Genome Browser:NM_006863, UniProtKB:O75019 No chr19 55105041 55113846 54593576 54602381 +PA30377 11027 HGNC:6603 ENSG00000239998 leukocyte immunoglobulin like receptor A2 LILRA2 """leucocyte Ig-like receptor A2"", ""leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2""" CD85h, ILT1, LIR-7, LIR7 Yes No Comparative Toxicogenomics Database:11027, Ensembl:ENSG00000239998, GenAtlas:LILRA2, GeneCard:LILRA2, HGNC:HGNC:6603, HumanCyc Gene:HS05476, ModBase:Q8N149, NCBI Gene:11027, OMIM:604812, RefSeq DNA:NT_011109, RefSeq Protein:NP_001124389, RefSeq Protein:NP_006857, RefSeq RNA:NM_001130917, RefSeq RNA:NM_006866, UCSC Genome Browser:NM_006866, UniProtKB:Q8N149 No chr19 55084469 55099027 54572997 54587560 +PA30378 11026 HGNC:6604 ENSG00000273884 leukocyte immunoglobulin like receptor A3 LILRA3 """leucocyte Ig-like receptor A3"", ""leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3""" CD85e, HM31, HM43, ILT6, LIR-4, LIR4 Yes No Ensembl:ENSG00000273884, GenAtlas:LILRA3, GeneCard:LILRA3, HGNC:HGNC:6604, HumanCyc Gene:HS10196, ModBase:Q8NHJ3, NCBI Gene:11026, OMIM:604818, RefSeq DNA:NT_011109, RefSeq Protein:NP_001166125, RefSeq Protein:NP_006856, RefSeq RNA:NM_001172654, RefSeq RNA:NM_006865, UCSC Genome Browser:NM_006865, UniProtKB:Q8N6C8 No chr19 54799854 54804625 270964 275379 +PA142671546 23547 HGNC:15503 ENSG00000239961 leukocyte immunoglobulin like receptor A4 LILRA4 """leucocyte Ig-like receptor A4"", ""leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4""" CD85g, ILT7 Yes No Ensembl:ENSG00000239961, GeneCard:LILRA4, HGNC:HGNC:15503, HumanCyc Gene:HS15924, ModBase:P59901, NCBI Gene:23547, OMIM:607517, RefSeq DNA:NT_011109, RefSeq Protein:NP_036408, RefSeq RNA:NM_012276, UniProtKB:P59901 No chr19 54844473 54850421 54333185 54339169 +PA142671547 353514 HGNC:16309 ENSG00000187116 leukocyte immunoglobulin like receptor A5 LILRA5 """leucocyte Ig-like receptor A5"", ""leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5""" CD85, CD85f, ILT11, LILRB7, LIR9 Yes No Ensembl:ENSG00000187116, GeneCard:LILRA5, HGNC:HGNC:16309, ModBase:A6NI73, NCBI Gene:353514, OMIM:606047, RefSeq DNA:NT_011109, RefSeq Protein:NP_067073, RefSeq Protein:NP_870994, RefSeq Protein:NP_871714, RefSeq Protein:NP_871715, RefSeq RNA:NM_021250, RefSeq RNA:NM_181879, RefSeq RNA:NM_181985, RefSeq RNA:NM_181986, UniProtKB:A6NI73 No chr19 54818353 54824409 54307070 54313139 +PA142671548 79168 HGNC:15495 ENSG00000244482 leukocyte immunoglobulin like receptor A6 LILRA6 """leucocyte Ig-like receptor A6"", ""leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6""" CD85b, ILT8, LILRB6 Yes No Ensembl:ENSG00000244482, GeneCard:LILRA6, HGNC:HGNC:15495, HumanCyc Gene:HS15928, ModBase:Q6PI73, NCBI Gene:79168, RefSeq DNA:NT_011109, RefSeq Protein:NP_077294, RefSeq RNA:NM_024318, UniProtKB:Q6PI73 No chr19 54740469 54746724 54236592 54242768 +PA30379 10859 HGNC:6605 ENSG00000104972 leukocyte immunoglobulin like receptor B1 LILRB1 """leucocyte Ig-like receptor B1"", ""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1"", ""myeloid inhibitory receptor 7""" CD85, CD85j, ILT2, LIR-1, LIR1, MIR-7, PIR-B, PIRB Yes No Ensembl:ENSG00000104972, GenAtlas:LILRB1, GeneCard:LILRB1, HGNC:HGNC:6605, HumanCyc Gene:HS02666, ModBase:Q8NHL6, NCBI Gene:10859, OMIM:604811, RefSeq DNA:NT_011109, RefSeq Protein:NP_001075106, RefSeq Protein:NP_001075107, RefSeq Protein:NP_001075108, RefSeq Protein:NP_006660, RefSeq RNA:NM_001081637, RefSeq RNA:NM_001081638, RefSeq RNA:NM_001081639, RefSeq RNA:NM_006669, UCSC Genome Browser:NM_006669, UniProtKB:A2IXV4, UniProtKB:Q8NHL6 No chr19 55128384 55149007 54616930 54637925 +PA30380 10288 HGNC:6606 ENSG00000131042 leukocyte immunoglobulin like receptor B2 LILRB2 """leucocyte Ig-like receptor B2"", ""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2"", ""myeloid inhibitory receptor 10""" CD85d, ILT4, LIR-2, LIR2, MIR-10, MIR10 Yes No Comparative Toxicogenomics Database:10288, Ensembl:ENSG00000131042, GenAtlas:LILRB2, GeneCard:LILRB2, HGNC:HGNC:6606, HumanCyc Gene:HS05477, NCBI Gene:10288, OMIM:604815, RefSeq DNA:NT_011109, RefSeq Protein:NP_001074447, RefSeq Protein:NP_005865, RefSeq RNA:NM_001080978, RefSeq RNA:NM_005874, UCSC Genome Browser:NM_005874, UniProtKB:A2IXV5, UniProtKB:Q8N423 No chr19 54777675 54785033 54273821 54281178 +PA30381 11025 HGNC:6607 ENSG00000204577 leukocyte immunoglobulin like receptor B3 LILRB3 """leucocyte Ig-like receptor B3"", ""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3""" CD85a, HL9, ILT5, LIR-3, LIR3, PIR-B, PIRB Yes No Comparative Toxicogenomics Database:11025, Ensembl:ENSG00000204577, GenAtlas:LILRB3, GeneCard:LILRB3, HGNC:HGNC:6607, ModBase:O75022, NCBI Gene:11025, OMIM:604820, RefSeq DNA:NT_011109, RefSeq Protein:NP_001074919, RefSeq Protein:NP_006855, RefSeq RNA:NM_001081450, RefSeq RNA:NM_006864, UCSC Genome Browser:NM_006864, UniProtKB:C9J1P3, UniProtKB:C9JIP1 No chr19 54720147 54726997 54216278 54223087 +PA30382 11006 HGNC:6608 ENSG00000186818 leukocyte immunoglobulin like receptor B4 LILRB4 """leucocyte Ig-like receptor B4"", ""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4""" CD85k, HM18, ILT3, LIR-5, LIR5 Yes No Comparative Toxicogenomics Database:11006, Ensembl:ENSG00000186818, GenAtlas:LILRB4, GeneCard:LILRB4, HGNC:HGNC:6608, HumanCyc Gene:HS11608, ModBase:Q8NHJ6, NCBI Gene:11006, OMIM:604821, RefSeq DNA:NT_011109, RefSeq Protein:NP_001074907, RefSeq Protein:NP_006838, RefSeq RNA:NM_001081438, RefSeq RNA:NM_006847, UCSC Genome Browser:NM_006847, UniProtKB:Q8NHJ6 No chr19 55174271 55181810 54662524 54670359 +PA30383 10990 HGNC:6609 ENSG00000105609 leukocyte immunoglobulin like receptor B5 LILRB5 """leucocyte Ig-like receptor B5"", ""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5""" CD85c, LIR-8, LIR8 Yes Yes Ensembl:ENSG00000105609, GenAtlas:LILRB5, GeneCard:LILRB5, HGNC:HGNC:6609, HumanCyc Gene:HS02770, ModBase:O75023, NCBI Gene:10990, OMIM:604814, RefSeq DNA:NT_011109, RefSeq Protein:NP_001074911, RefSeq Protein:NP_001074912, RefSeq Protein:NP_006831, RefSeq RNA:NM_001081442, RefSeq RNA:NM_001081443, RefSeq RNA:NM_006840, UCSC Genome Browser:NM_006840, UniProtKB:O75023 No chr19 54754270 54761167 54250405 54257308 +PA142671549 79167 HGNC:15496 ENSG00000186152 leukocyte immunoglobulin-like receptor pseudogene 1 LILRP1 CD85l, ILT9, LILRA6P Yes No Ensembl:ENSG00000186152, GeneCard:LILRP1, HGNC:HGNC:15496, NCBI Gene:79167, RefSeq DNA:NG_002681, RefSeq DNA:NT_011109 No chr19 55208106 55210309 54696327 54698529 +PA142671550 79166 HGNC:15497 ENSG00000170858 leukocyte immunoglobulin-like receptor pseudogene 2 LILRP2 CD85m, ILT10 Yes No Ensembl:ENSG00000170858, GeneCard:LILRP2, HGNC:HGNC:15497, NCBI Gene:79166, RefSeq DNA:NT_011109, RefSeq RNA:NR_003061 No chr19 55219700 55224955 54707916 54713452 +PA30384 3982 HGNC:6610 ENSG00000105370 lens intrinsic membrane protein 2 LIM2 lens intrinsic membrane protein 2, 19kDa MP17, MP19 Yes No Comparative Toxicogenomics Database:3982, Ensembl:ENSG00000105370, GenAtlas:LIM2, GeneCard:LIM2, HGNC:HGNC:6610, HumanCyc Gene:HS02721, NCBI Gene:3982, OMIM:154045, RefSeq DNA:NG_012924, RefSeq DNA:NT_011109, RefSeq Protein:NP_001155220, RefSeq Protein:NP_085915, RefSeq RNA:NM_001161748, RefSeq RNA:NM_030657, UCSC Genome Browser:NM_030657, UniProtKB:P55344 No chr19 51883163 51891210 51379909 51387956 +PA143485527 51474 HGNC:24636 ENSG00000050405 LIM domain and actin binding 1 LIMA1 epithelial protein lost in neoplasm beta EPLIN Yes No Comparative Toxicogenomics Database:51474, Ensembl:ENSG00000050405, GeneCard:LIMA1, HGNC:HGNC:24636, HumanCyc Gene:HS00633, ModBase:Q9P0H8, NCBI Gene:51474, OMIM:608364, RefSeq DNA:NT_029419, RefSeq Protein:NP_001107018, RefSeq Protein:NP_001107019, RefSeq Protein:NP_057441, RefSeq RNA:NM_001113546, RefSeq RNA:NM_001113547, RefSeq RNA:NM_016357, UniProtKB:Q59FE8, UniProtKB:Q9UHB6 No chr12 50569563 50677353 50175780 50283570 +PA162393957 22998 HGNC:29191 ENSG00000064042 LIM and calponin homology domains 1 LIMCH1 DKFZP686A01247, LIMCH1A, LMO7B Yes No Ensembl:ENSG00000064042, GeneCard:LIMCH1, HGNC:HGNC:29191, ModBase:Q8N3S9, NCBI Gene:22998, RefSeq DNA:NT_006238, RefSeq Protein:NP_001106188, RefSeq Protein:NP_001106189, RefSeq Protein:NP_001106190, RefSeq Protein:NP_001106191, RefSeq Protein:NP_055803, RefSeq RNA:NM_001112717, RefSeq RNA:NM_001112718, RefSeq RNA:NM_001112719, RefSeq RNA:NM_001112720, RefSeq RNA:NM_014988, UniProtKB:A8MXC3, UniProtKB:Q9UPQ0 No chr4 41362802 41702061 41359607 41700044 +PA30385 8994 HGNC:6612 ENSG00000144791 LIM domain containing 1 LIMD1 LIM domains containing 1 Yes Yes Ensembl:ENSG00000144791, GenAtlas:LIMD1, GeneCard:LIMD1, HGNC:HGNC:6612, HumanCyc Gene:HS07203, ModBase:Q9UGP4, NCBI Gene:8994, OMIM:604543, RefSeq DNA:NT_022517, RefSeq Protein:NP_055055, RefSeq RNA:NM_014240, UCSC Genome Browser:NM_014240, UniProtKB:Q9UGP4 No chr3 45636323 45722755 45594181 45681263 +PA143485528 80774 HGNC:28142 ENSG00000136490 LIM domain containing 2 LIMD2 MGC10986 Yes No Ensembl:ENSG00000136490, GeneCard:LIMD2, HGNC:HGNC:28142, HumanCyc Gene:HS06170, ModBase:Q9BT23, NCBI Gene:80774, RefSeq DNA:NT_010783, RefSeq Protein:NP_085053, RefSeq RNA:NM_030576, UniProtKB:Q9BT23 No chr17 61773249 61778527 63695889 63701222 +PA142671551 54923 HGNC:26016 ENSG00000203896 Lck interacting transmembrane adaptor 1 LIME1 FLJ20406, LIME, dJ583P15.4 Yes No Ensembl:ENSG00000203896, GeneCard:LIME1, HGNC:HGNC:26016, HumanCyc Gene:HS17225, ModBase:Q9H400, NCBI Gene:54923, OMIM:609809, RefSeq DNA:NT_011333, RefSeq Protein:NP_060276, RefSeq RNA:NM_017806, UniProtKB:Q9H400 No chr20 62367480 62370460 63735701 63739107 +PA30386 3984 HGNC:6613 ENSG00000106683 LIM domain kinase 1 LIMK1 LIMK Yes No Comparative Toxicogenomics Database:3984, Ensembl:ENSG00000106683, GenAtlas:LIMK1, GeneCard:LIMK1, HGNC:HGNC:6613, HumanCyc Gene:HS02941, ModBase:P53667, NCBI Gene:3984, OMIM:601329, RefSeq DNA:NG_008129, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001191355, RefSeq Protein:NP_002305, RefSeq RNA:NM_001204426, RefSeq RNA:NM_002314, UCSC Genome Browser:NM_002314, UniProtKB:P53667 No chr7 73498107 73536855 74083777 74122525 +PA30387 3985 HGNC:6614 ENSG00000182541 LIM domain kinase 2 LIMK2 Yes No Comparative Toxicogenomics Database:3985, Ensembl:ENSG00000182541, GenAtlas:LIMK2, GeneCard:LIMK2, HGNC:HGNC:6614, HumanCyc Gene:HS11960, ModBase:P53671, NCBI Gene:3985, OMIM:601988, RefSeq DNA:NT_011520, RefSeq Protein:NP_001026971, RefSeq Protein:NP_005560, RefSeq Protein:NP_057952, RefSeq RNA:NM_001031801, RefSeq RNA:NM_005569, RefSeq RNA:NM_016733, UCSC Genome Browser:NM_005569, UniProtKB:P53671, UniProtKB:Q7L3H5 No chr22 31608225 31676066 31212264 31280080 +PA30389 3987 HGNC:6616 ENSG00000169756 LIM zinc finger domain containing 1 LIMS1 LIM and senescent cell antigen-like domains 1, particularly interesting new Cys-His protein 1, senescent cell antigen PINCH, PINCH1 Yes No Comparative Toxicogenomics Database:3987, Ensembl:ENSG00000169756, GenAtlas:LIMS1, GeneCard:LIMS1, HGNC:HGNC:6616, HumanCyc Gene:HS10003, ModBase:P48059, NCBI Gene:3987, OMIM:602567, RefSeq DNA:NT_022171, RefSeq Protein:NP_001180411, RefSeq Protein:NP_001180412, RefSeq Protein:NP_001180413, RefSeq Protein:NP_001180414, RefSeq Protein:NP_001180417, RefSeq Protein:NP_004978, RefSeq RNA:NM_001193482, RefSeq RNA:NM_001193483, RefSeq RNA:NM_001193484, RefSeq RNA:NM_001193485, RefSeq RNA:NM_001193488, RefSeq RNA:NM_004987, UCSC Genome Browser:NM_004987, UniProtKB:P48059 No chr2 109150811 109303702 108534355 108687246 +PA30390 55679 HGNC:16084 ENSG00000072163 LIM zinc finger domain containing 2 LIMS2 LIM and senescent cell antigen-like domains 2, particularly interesting new Cys-His protein 2 PINCH-2, PINCH2 Yes No Comparative Toxicogenomics Database:55679, Ensembl:ENSG00000072163, GenAtlas:LIMS2, GeneCard:LIMS2, HGNC:HGNC:16084, HumanCyc Gene:HS12217, ModBase:Q7Z4I7, NCBI Gene:55679, OMIM:607908, RefSeq DNA:NT_022135, RefSeq Protein:NP_001129509, RefSeq Protein:NP_001154875, RefSeq Protein:NP_001154876, RefSeq Protein:NP_060450, RefSeq RNA:NM_001136037, RefSeq RNA:NM_001161403, RefSeq RNA:NM_001161404, RefSeq RNA:NM_017980, RefSeq RNA:NR_027823, UCSC Genome Browser:NM_017980, UniProtKB:B3KNZ3, UniProtKB:Q7Z4I7 No chr2 128395996 128439360 127638421 127681786 +PA134917873 96626 HGNC:30047 ENSG00000256977 LIM zinc finger domain containing 3 LIMS3 LIM and senescent cell antigen-like domains 3, pinch 2 Yes No Ensembl:ENSG00000256977, GeneCard:LIMS3, HGNC:HGNC:30047, ModBase:Q9HB10, NCBI Gene:96626, RefSeq DNA:NT_022135, RefSeq Protein:NP_277049, RefSeq RNA:NM_033514, RefSeq RNA:NR_027467, UniProtKB:Q9HB10 No chr2 110656009 110683202 109898432 109925625 +PA166049042 100288695 HGNC:39941 ENSG00000256671 LIM zinc finger domain containing 4 LIMS4 LIM and senescent cell antigen-like domains 3-like LIMS3L Yes No Ensembl:ENSG00000256671, HGNC:HGNC:39941, NCBI Gene:100288695 No chr2 111194191 111230652 110387196 110473075 +PA165751523 79727 HGNC:15986 ENSG00000131914 lin-28 homolog A LIN28A lin-28 homolog A (C. elegans) CSDD1, FLJ12457, LIN-28, LIN28, ZCCHC1 Yes No Ensembl:ENSG00000131914, GeneCard:LIN28A, HGNC:HGNC:15986, HumanCyc Gene:HS05584, ModBase:Q9H9Z2, NCBI Gene:79727, OMIM:611043, RefSeq DNA:NT_004610, RefSeq Protein:NP_078950, RefSeq RNA:NM_024674, UniProtKB:Q9H9Z2 No chr1 26737269 26756219 26410768 26429728 +PA142671543 389421 HGNC:32207 ENSG00000187772 lin-28 homolog B LIN28B lin-28 homolog B (C. elegans) CSDD2, FLJ16517 Yes No Ensembl:ENSG00000187772, GeneCard:LIN28B, HGNC:HGNC:32207, ModBase:Q6ZN17, NCBI Gene:389421, OMIM:611044, RefSeq DNA:NT_025741, RefSeq Protein:NP_001004317, RefSeq RNA:NM_001004317, UniProtKB:Q6ZN17 No chr6 105384874 105531207 104936999 105083332 +PA162394016 55957 HGNC:33234 ENSG00000267796 lin-37 DREAM MuvB core complex component LIN37 lin-37 homolog (C. elegans) F25965, ZK418.4, lin-37 Yes No Ensembl:ENSG00000267796, GeneCard:LIN37, HGNC:HGNC:33234, ModBase:Q96GY3, NCBI Gene:55957, RefSeq DNA:NT_011109, RefSeq Protein:NP_061977, RefSeq RNA:NM_019104, UniProtKB:Q96GY3 No chr19 36239262 36245420 35748361 35754519 +PA162394039 91750 HGNC:19856 ENSG00000205659 lin-52 DREAM MuvB core complex component LIN52 lin-52 homolog (C. elegans) C14orf46 Yes No Ensembl:ENSG00000205659, GeneCard:LIN52, HGNC:HGNC:19856, NCBI Gene:91750, RefSeq DNA:NT_026437, RefSeq Protein:NP_001019845, RefSeq RNA:NM_001024674, UniProtKB:B3KN83, UniProtKB:Q52LA3 No chr14 74551656 74667117 74084831 74201255 +PA162394056 132660 HGNC:25397 ENSG00000189308 lin-54 DREAM MuvB core complex component LIN54 CXC domain containing 1, lin-54 homolog (C. elegans) CXCDC1, DKFZp686L1814, JC8.6, MIP120, TCX1 Yes No Ensembl:ENSG00000189308, GeneCard:LIN54, HGNC:HGNC:25397, NCBI Gene:132660, OMIM:613367, RefSeq DNA:NT_016354, RefSeq Protein:NP_001108479, RefSeq Protein:NP_001108480, RefSeq Protein:NP_919258, RefSeq RNA:NM_001115007, RefSeq RNA:NM_001115008, RefSeq RNA:NM_194282, UniProtKB:Q6MZP7, UniProtKB:Q7Z3G2 No chr4 83845756 83934097 82924603 83012951 +PA134881936 8825 HGNC:17787 ENSG00000111052 lin-7 homolog A, crumbs cell polarity complex component LIN7A lin-7 homolog A (C. elegans), mammalian LIN-7 1 LIN-7A, MALS-1, TIP-33, VELI1 Yes No Ensembl:ENSG00000111052, GeneCard:LIN7A, HGNC:HGNC:17787, HumanCyc Gene:HS03364, ModBase:O14910, NCBI Gene:8825, OMIM:603380, RefSeq DNA:NT_029419, RefSeq Protein:NP_004655, RefSeq RNA:NM_004664, UniProtKB:O14910 No chr12 81191171 81331702 80792520 80937915 +PA134914453 64130 HGNC:17788 ENSG00000104863 lin-7 homolog B, crumbs cell polarity complex component LIN7B lin-7 homolog B (C. elegans) LIN-7B, MALS-2, VELI2 Yes No Comparative Toxicogenomics Database:64130, Ensembl:ENSG00000104863, GeneCard:LIN7B, HGNC:HGNC:17788, HumanCyc Gene:HS02637, ModBase:Q9HAP6, NCBI Gene:64130, OMIM:612331, RefSeq DNA:NT_011109, RefSeq Protein:NP_071448, RefSeq RNA:NM_022165, UniProtKB:Q9HAP6 No chr19 49617618 49621717 49114339 49118460 +PA134891786 55327 HGNC:17789 ENSG00000148943 lin-7 homolog C, crumbs cell polarity complex component LIN7C LIN-7 protein 3, lin-7 homolog C (C. elegans) FLJ11215, LIN-7-C, LIN-7C, Lin7c, MALS-3, VELI3 Yes No Comparative Toxicogenomics Database:55327, Ensembl:ENSG00000148943, GeneCard:LIN7C, HGNC:HGNC:17789, HumanCyc Gene:HS07573, ModBase:Q9NUP9, NCBI Gene:55327, OMIM:612332, RefSeq DNA:NT_009237, RefSeq Protein:NP_060832, RefSeq RNA:NM_018362, UniProtKB:Q9NUP9 No chr11 27515965 27528326 27494418 27506779 +PA134970771 286826 HGNC:30830 ENSG00000183814 lin-9 DREAM MuvB core complex component LIN9 TUDOR gene similar, lin-9 homolog (C. elegans), rb related pathway actor TGS Yes No Ensembl:ENSG00000183814, GeneCard:LIN9, HGNC:HGNC:30830, NCBI Gene:286826, OMIM:609375, RefSeq DNA:NT_167186, RefSeq Protein:NP_775106, RefSeq RNA:NM_173083, UniProtKB:Q5TKA1 No chr1 226418850 226497789 226231149 226310082 +PA164723569 140875 HGNC:16224 ENSG00000233354 long intergenic non-protein coding RNA 28 LINC00028 dJ1093G12.6 Yes No Ensembl:ENSG00000233354, GeneCard:NCRNA00028, HGNC:HGNC:16224, NCBI Gene:140875, RefSeq DNA:NT_011362, RefSeq RNA:NR_024358 No chr20 30073581 30075377 31485778 31487574 +PA164723570 100144596 HGNC:16184 ENSG00000125514 long intergenic non-protein coding RNA 29 LINC00029 bA305P22.4 Yes No Ensembl:ENSG00000125514, GeneCard:LINC00029, HGNC:HGNC:16184, NCBI Gene:100144596, RefSeq RNA:NR_028295 No chr20 61665569 61668380 63034217 63037028 +PA164723571 158035 HGNC:16506 ENSG00000283945 long intergenic non-protein coding RNA 32 LINC00032 Yes No Ensembl:ENSG00000283945, GeneCard:NCRNA00032, HGNC:HGNC:16506, NCBI Gene:158035, RefSeq DNA:NT_008413, RefSeq RNA:NR_026679, RefSeq RNA:NR_026687 No chr9 27245682 27282791 27245684 27282793 +PA164723572 619434 HGNC:32028 ENSG00000254008 long intergenic non-protein coding RNA 51 LINC00051 Yes No Ensembl:ENSG00000254008, GeneCard:LINC00051, HGNC:HGNC:32028, NCBI Gene:619434, RefSeq DNA:NT_008046, RefSeq RNA:NR_024378 No chr8 143279717 143290364 142198356 142209003 +PA164723573 145978 HGNC:26455 ENSG00000259527 long intergenic non-protein coding RNA 52 LINC00052 FLJ31461 Yes No Ensembl:ENSG00000259527, GeneCard:NCRNA00052, HGNC:HGNC:26455, NCBI Gene:145978, RefSeq DNA:NT_010274, RefSeq RNA:NR_026869 No chr15 88120160 88122917 87576929 87579686 +PA164723631 100188953 HGNC:31408 ENSG00000225194 long intergenic non-protein coding RNA 92 LINC00092 bA346B7.1 Yes No Ensembl:ENSG00000225194, GeneCard:LINC00092, HGNC:HGNC:31408, NCBI Gene:100188953, RefSeq DNA:NT_008470, RefSeq RNA:NR_024129 No chr9 98782014 98784037 96019732 96021755 +PA164723652 751580 HGNC:31843 ENSG00000236871 long intergenic non-protein coding RNA 106 LINC00106 OTTHUMG00000021061 Yes No Ensembl:ENSG00000236871, GeneCard:LINC00106, HGNC:HGNC:31843, NCBI Gene:751580 No chrX +PA164723658 54090 HGNC:1262 ENSG00000227702 long intergenic non-protein coding RNA 111 LINC00111 Yes No Ensembl:ENSG00000227702, GeneCard:NCRNA00111, HGNC:HGNC:1262, NCBI Gene:54090, RefSeq DNA:NT_011515, RefSeq RNA:NR_024367 No chr21 43099462 43117496 41679302 41697336 +PA164723659 54089 HGNC:1263 ENSG00000232401 long intergenic non-protein coding RNA 112 LINC00112 Yes No Ensembl:ENSG00000232401, GeneCard:NCRNA00112, HGNC:HGNC:1263, NCBI Gene:54089, RefSeq DNA:NT_011515, RefSeq RNA:NR_024028 No chr21 43136596 43137742 41716436 41717582 +PA164723660 54088 HGNC:1264 ENSG00000225298 long intergenic non-protein coding RNA 113 LINC00113 Yes No Ensembl:ENSG00000225298, GeneCard:NCRNA00113, HGNC:HGNC:1264, NCBI Gene:54088, RefSeq DNA:NT_011512, RefSeq RNA:NR_024357 No chr21 29094698 29123552 27722379 27751233 +PA164723661 400866 HGNC:1265 ENSG00000223806 long intergenic non-protein coding RNA 114 LINC00114 Yes No Ensembl:ENSG00000223806, GeneCard:NCRNA00114, HGNC:HGNC:1265, NCBI Gene:400866, OMIM:611723, RefSeq DNA:NT_011512, RefSeq RNA:NR_027065, RefSeq RNA:NR_027066, RefSeq RNA:NR_027067 No chr21 40110879 40145401 38738955 38773477 +PA164723665 79854 HGNC:26211 ENSG00000225880 long intergenic non-protein coding RNA 115 LINC00115 FLJ22639 Yes No Ensembl:ENSG00000225880, GeneCard:NCRNA00115, HGNC:HGNC:26211, NCBI Gene:79854, RefSeq DNA:NT_004350, RefSeq RNA:NR_024321 No chr1 761586 762902 826206 827522 +PA164723688 112597 HGNC:28717 long intergenic non-protein coding RNA 152 LINC00152 MGC4677 Yes No GeneCard:NCRNA00152, HGNC:HGNC:28717, NCBI Gene:112597, RefSeq DNA:NT_022184, RefSeq Protein:NP_443103, RefSeq RNA:NM_052871, RefSeq RNA:NR_024204, RefSeq RNA:NR_024205, RefSeq RNA:NR_024206, UCSC Genome Browser:NM_052871 No chr2 87754974 87821037 87455455 87521518 +PA164723725 54072 HGNC:1283 ENSG00000185433 long intergenic non-protein coding RNA 158 LINC00158 Yes No Ensembl:ENSG00000185433, GeneCard:NCRNA00158, HGNC:HGNC:1283, NCBI Gene:54072, RefSeq DNA:NT_011512, RefSeq RNA:NR_024027 No chr21 26758133 26804013 25385820 25431701 +PA164723726 54070 HGNC:1285 ENSG00000230323 long intergenic non-protein coding RNA 159 LINC00159 Yes No Ensembl:ENSG00000230323, GeneCard:NCRNA00159, HGNC:HGNC:1285, NCBI Gene:54070, RefSeq DNA:NT_011512, RefSeq RNA:NR_024352 No chr21 +PA164723727 54064 HGNC:1294 ENSG00000230978 long intergenic non-protein coding RNA 160 LINC00160 Yes No Ensembl:ENSG00000230978, GeneCard:NCRNA00160, HGNC:HGNC:1294, NCBI Gene:54064, RefSeq DNA:NT_011512, RefSeq RNA:NR_024351 No chr21 36096105 36109479 34723807 34737182 +PA164723728 118421 HGNC:17138 ENSG00000226935 long intergenic non-protein coding RNA 161 LINC00161 Yes No Ensembl:ENSG00000226935, GeneCard:NCRNA00161, HGNC:HGNC:17138, NCBI Gene:118421, RefSeq DNA:NT_011512, RefSeq RNA:NR_026552, RefSeq RNA:NR_026553 No chr21 29911640 29912677 28539318 28540355 +PA164723730 727699 HGNC:33165 ENSG00000234880 long intergenic non-protein coding RNA 163 LINC00163 narcolepsy candidate region gene 1A, narcolepsy candidate-region 1 gene A NLC1-A, NLC1A Yes No Ensembl:ENSG00000234880, GeneCard:LINC00163, HGNC:HGNC:33165, NCBI Gene:727699, OMIM:161400, OMIM:610259, RefSeq RNA:NR_033840 No chr21 46409779 46414001 44989864 44994086 +PA165378435 727701 HGNC:33166 ENSG00000261706 long intergenic non-protein coding RNA 165 LINC00165 narcolepsy candidate-region 1 gene B NLC1-B Yes No Ensembl:ENSG00000261706, GeneCard:LINC00165, HGNC:HGNC:33166, NCBI Gene:727701 No chr21 +PA164723771 100287569 HGNC:33791 ENSG00000196668 long intergenic non-protein coding RNA 173 LINC00173 FLJ42957 Yes No Ensembl:ENSG00000196668, GeneCard:LINC00173, HGNC:HGNC:33791, NCBI Gene:100287569, RefSeq DNA:NT_009775, RefSeq Protein:XP_002343249, RefSeq Protein:XP_002344739, RefSeq Protein:XP_002347362, RefSeq RNA:NR_027345, RefSeq RNA:NR_027346, RefSeq RNA:XM_002343208, RefSeq RNA:XM_002344698, RefSeq RNA:XM_002347321 No chr12 116971227 116974318 116533422 116536513 +PA164723780 285908 HGNC:27788 ENSG00000179406 long intergenic non-protein coding RNA 174 LINC00174 Yes No Ensembl:ENSG00000179406, GeneCard:NCRNA00174, HGNC:HGNC:27788, NCBI Gene:285908, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq RNA:NR_026873 No chr7 65841031 65865395 66376044 66400408 +PA165752090 100302691 HGNC:37192 ENSG00000224939 long intergenic non-protein coding RNA 184 LINC00184 HANC Yes No Ensembl:ENSG00000224939, GeneCard:LINC00184, HGNC:HGNC:37192, NCBI Gene:100302691, RefSeq RNA:NR_033927 No chr1 234765057 234770526 234629311 234634780 +PA38542 193629 HGNC:18461 ENSG00000215533 long intergenic non-protein coding RNA 189 LINC00189 Yes No Ensembl:ENSG00000215533, GenAtlas:C21orf109, GeneCard:C21orf109, GeneCard:NCRNA00189, HGNC:HGNC:18461, NCBI Gene:193629, RefSeq DNA:NT_011512, RefSeq RNA:NR_027072, UCSC Genome Browser:NM_138968 No chr21 30565815 30660526 29193494 29288205 +PA165548929 399706 HGNC:30974 ENSG00000229205 long intergenic non-protein coding RNA 200 LINC00200 FLJ40354 Yes No Ensembl:ENSG00000229205, GeneCard:NCRNA00200, HGNC:HGNC:30974, NCBI Gene:399706, RefSeq DNA:NT_008705, RefSeq DNA:NT_077567, RefSeq DNA:NT_077567.3, RefSeq RNA:NR_015376, RefSeq RNA:NR_015376.2, RefSeq RNA:XR_039816, RefSeq RNA:XR_039816.1, RefSeq RNA:XR_039817, RefSeq RNA:XR_039817.1, RefSeq RNA:XR_039818, RefSeq RNA:XR_039818.1 No chr10 1205708 1210612 1159768 1164672 +PA25873 102723489 HGNC:16420 ENSG00000223768 long intergenic non-protein coding RNA 205 LINC00205 Yes No Ensembl:ENSG00000223768, GenAtlas:C21orf86, GeneCard:LINC00205, HGNC:HGNC:16420, NCBI Gene:102723489, RefSeq DNA:NT_011515, RefSeq RNA:NM_153454, RefSeq RNA:XR_040463, RefSeq RNA:XR_040464, RefSeq RNA:XR_040465, UCSC Genome Browser:NM_153454 No chr21 +PA165378350 388910 HGNC:37255 ENSG00000187012 long intergenic non-protein coding RNA 207 LINC00207 Yes No Ensembl:ENSG00000187012, GeneCard:NCRNA00207, HGNC:HGNC:37255, NCBI Gene:388910, RefSeq DNA:NT_011520, RefSeq Protein:NP_001013004, RefSeq RNA:NM_001012986, RefSeq RNA:NR_028409, RefSeq RNA:NR_028410, RefSeq RNA:NR_028411 No chr22 44965220 44968329 44569340 44572449 +PA25957 83655 HGNC:15535 ENSG00000170983 long intergenic non-protein coding RNA 208 LINC00208 Yes No Ensembl:ENSG00000170983, GenAtlas:C8orf14, GeneCard:C8orf14, HGNC:HGNC:15535, HumanCyc Gene:HS15939, NCBI Gene:83655, RefSeq RNA:NR_040035, UCSC Genome Browser:NM_054029, UniProtKB:Q96KT6 No chr8 11434044 11438850 11576535 11581341 +PA165479204 338005 HGNC:20169 ENSG00000270816 long intergenic non-protein coding RNA 221 LINC00221 Yes No Ensembl:ENSG00000270816, GeneCard:NCRNA00221, HGNC:HGNC:20169, NCBI Gene:338005, RefSeq DNA:NG_001019, RefSeq RNA:NR_027457 No chr14 106938455 106951529 106482439 106495515 +PA165618131 387111 HGNC:21560 ENSG00000203801 long intergenic non-protein coding RNA 222 LINC00222 dJ354J5.2 Yes No Ensembl:ENSG00000203801, GeneCard:NCRNA00222, HGNC:HGNC:21560, NCBI Gene:387111, RefSeq RNA:NR_033376 No chr6 109072857 109091145 108751654 108769942 +PA165479207 338004 HGNC:20168 ENSG00000276210 long intergenic non-protein coding RNA 226 LINC00226 Yes No Ensembl:ENSG00000276210, GeneCard:NCRNA00226, HGNC:HGNC:20168, NCBI Gene:338004, RefSeq RNA:NR_033375 No chr14 106744269 106744966 106287674 106288372 +PA165378352 414351 HGNC:13240 ENSG00000234300 long intergenic non-protein coding RNA 229 LINC00229 dJ474I12.C22.2 Yes No Ensembl:ENSG00000234300, GeneCard:NCRNA00229, HGNC:HGNC:13240, NCBI Gene:414351 No chr22 45002208 45021299 44606328 44625419 +PA25523 64493 HGNC:14138 ENSG00000277142 long intergenic non-protein coding RNA 235 LINC00235 Yes No Ensembl:ENSG00000277142, GenAtlas:C16orf10, GeneCard:C16orf10, GeneCard:NCRNA00235, HGNC:HGNC:14138, NCBI Gene:64493, RefSeq DNA:NT_010393, RefSeq RNA:NR_024121 No chr16 576847 577407 526847 527407 +PA165479225 145200 HGNC:20119 ENSG00000258512 long intergenic non-protein coding RNA 239 LINC00239 Yes No Ensembl:ENSG00000258512, GeneCard:NCRNA00239, HGNC:HGNC:20119, NCBI Gene:145200, RefSeq DNA:NT_026437, RefSeq RNA:NR_026774, RefSeq RNA:XM_096733, RefSeq RNA:XM_944937, RefSeq RNA:XR_040543, RefSeq RNA:XR_040544, RefSeq RNA:XR_040545 No chr14 102196774 102198862 101730437 101732525 +PA165618156 100133205 HGNC:18772 ENSG00000224843 long intergenic non-protein coding RNA 240 LINC00240 bA373D17.1 Yes No Ensembl:ENSG00000224843, GeneCard:NCRNA00240, HGNC:HGNC:18772, NCBI Gene:100133205, RefSeq DNA:NT_007592, RefSeq Protein:XP_001717717, RefSeq RNA:NR_026775, RefSeq RNA:XM_001717665 No chr6 26924772 26991753 26956993 27023974 +PA165618162 401288 HGNC:21249 ENSG00000229214 long intergenic non-protein coding RNA 242 LINC00242 FLJ31451, dJ266L20.5 Yes No Ensembl:ENSG00000229214, GeneCard:NCRNA00242, HGNC:HGNC:21249, NCBI Gene:401288, RefSeq DNA:NT_007302, RefSeq DNA:NT_025741, RefSeq RNA:NM_207502, RefSeq RNA:NR_026781, RefSeq RNA:XR_040753, RefSeq RNA:XR_040754, RefSeq RNA:XR_040755 No chr6 170188886 170198921 169788790 169798825 +PA25947 64433 HGNC:13245 ENSG00000279418 long intergenic non-protein coding RNA 244 LINC00244 Yes No Comparative Toxicogenomics Database:64433, Ensembl:ENSG00000279418, GenAtlas:C7orf4, GeneCard:C7orf4, GeneCard:NCRNA00244, HGNC:HGNC:13245, NCBI Gene:64433, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq RNA:NR_024119 No chr7 156333185 156333795 156540491 156541101 +PA165585763 552859 HGNC:31950 ENSG00000280725 long intergenic non-protein coding RNA 251 LINC00251 Yes Yes Ensembl:ENSG00000280725, GeneCard:NCRNA00251, HGNC:HGNC:31950, NCBI Gene:552859, RefSeq RNA:NR_038901 No chr8 66073380 66092575 65161145 65180340 +PA25547 64735 HGNC:14160 ENSG00000281219 long intergenic non-protein coding RNA 254 LINC00254 Yes No Ensembl:ENSG00000281219, GenAtlas:C16orf32, GeneCard:C16orf32, GeneCard:NCRNA00254, HGNC:HGNC:14160, NCBI Gene:64735, RefSeq RNA:NR_033914 No chr16 1928286 1934232 1878285 1884231 +PA25766 140828 HGNC:16189 ENSG00000259974 long intergenic non-protein coding RNA 261 LINC00261 bA216C10.1 Yes No Ensembl:ENSG00000259974, GenAtlas:C20orf56, GeneCard:C20orf56, GeneCard:NCRNA00261, HGNC:HGNC:16189, NCBI Gene:140828, RefSeq DNA:NT_011387, RefSeq RNA:NR_001558, RefSeq RNA:XR_041830, RefSeq RNA:XR_041831, RefSeq RNA:XR_041832 No chr20 22541191 22559280 22560553 22578642 +PA165618186 349114 HGNC:28019 ENSG00000188185 long intergenic non-protein coding RNA 265 LINC00265 non-protein coding RNA 265-1 NCRNA00265-1 Yes No Ensembl:ENSG00000188185, GeneCard:NCRNA00265, HGNC:HGNC:28019, NCBI Gene:349114, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_026999 No chr7 39773167 39834222 39733568 39794623 +PA165618181 100131814 HGNC:32526 ENSG00000231028 long intergenic non-protein coding RNA 271 LINC00271 Yes No Ensembl:ENSG00000231028, GeneCard:NCRNA00271, HGNC:HGNC:32526, NCBI Gene:100131814, RefSeq DNA:NT_025741, RefSeq Protein:XP_001717411, RefSeq Protein:XP_001717834, RefSeq Protein:XP_001719746, RefSeq RNA:NR_026805, RefSeq RNA:XM_001717359, RefSeq RNA:XM_001717782, RefSeq RNA:XM_001719694, RefSeq RNA:XM_499044, RefSeq RNA:XM_944944 No chr6 135818939 136011976 135497801 135690838 +PA165752123 388719 HGNC:26898 ENSG00000203729 long intergenic non-protein coding RNA 272 LINC00272 RP1-223H12.3 Yes No Ensembl:ENSG00000203729, GeneCard:NCRNA00272, HGNC:HGNC:26898, NCBI Gene:388719, RefSeq DNA:NT_004487, RefSeq Protein:NP_001010899, RefSeq RNA:NM_001010899, RefSeq RNA:NR_034131, RefSeq RNA:XR_078232, RefSeq RNA:XR_078878, RefSeq RNA:XR_079362 No chr1 182376756 182383948 182407621 182414813 +PA165450271 649159 HGNC:38595 ENSG00000256642 long intergenic non-protein coding RNA 273 LINC00273 non-protein coding RNA 273-1 NCRNA00273-1, TOP Yes No Ensembl:ENSG00000256642, GeneCard:LINC00273, HGNC:HGNC:38595, NCBI Gene:649159, RefSeq DNA:NT_010393, RefSeq RNA:NR_038368, RefSeq RNA:XR_041240, RefSeq RNA:XR_041241 No chr16 33961052 33962503 34158585 34160036 +PA165697088 100499171 HGNC:38663 ENSG00000230448 long intergenic non-protein coding RNA 276 LINC00276 Yes No Ensembl:ENSG00000230448, HGNC:HGNC:38663, NCBI Gene:100499171 No chr2 14368998 14541082 14228874 14400958 +PA165696372 339789 HGNC:27940 ENSG00000236790 long intergenic non-protein coding RNA 299 LINC00299 FLJ45673 Yes No Ensembl:ENSG00000236790, GeneCard:C2orf46, HGNC:HGNC:27940, NCBI Gene:339789, RefSeq DNA:NT_005334, RefSeq RNA:NR_034135, RefSeq RNA:XR_040099, RefSeq RNA:XR_040100, RefSeq RNA:XR_040101 No chr2 8147901 8468549 8007771 8328419 +PA144596483 283197 HGNC:28603 ENSG00000181995 long intergenic non-protein coding RNA 301 LINC00301 MGC39681 Yes No Ensembl:ENSG00000181995, GeneCard:C11orf64, HGNC:HGNC:28603, NCBI Gene:283197, RefSeq DNA:NT_167190, RefSeq RNA:NR_026946 No chr11 60383224 60454622 60615751 60687149 +PA134941697 388699 HGNC:31825 long intergenic non-protein coding RNA 302 LINC00302 XP33 Yes No GeneCard:LINC00302, HGNC:HGNC:31825, NCBI Gene:388699 No chr1 +PA142672408 284573 HGNC:26865 ENSG00000176754 long intergenic non-protein coding RNA 303 LINC00303 FLJ40343 Yes No Ensembl:ENSG00000176754, GeneCard:C1orf157, HGNC:HGNC:26865, NCBI Gene:284573, RefSeq DNA:NT_004487, RefSeq Protein:NP_872385, RefSeq RNA:NM_182579, RefSeq RNA:NR_027902 No chr1 204001575 204010392 204032447 204041264 +PA162378401 283860 HGNC:26713 ENSG00000180422 long intergenic non-protein coding RNA 304 LINC00304 FLJ36701 Yes No Ensembl:ENSG00000180422, GeneCard:C16orf81, HGNC:HGNC:26713, HumanCyc Gene:HS17503, NCBI Gene:283860, RefSeq DNA:NT_010542, RefSeq RNA:NR_024347 No chr16 89225628 89230083 89159220 89163675 +PA134905008 221241 HGNC:28597 ENSG00000179676 long intergenic non-protein coding RNA 305 LINC00305 HsT1235, MGC39571 Yes No Ensembl:ENSG00000179676, GeneCard:C18orf20, HGNC:HGNC:28597, HumanCyc Gene:HS17330, NCBI Gene:221241, RefSeq DNA:NT_025028, RefSeq RNA:NR_027245 No chr18 61747243 61816260 64080009 64149026 +PA142672214 54143 HGNC:16023 ENSG00000184856 long intergenic non-protein coding RNA 308 LINC00308 PRED16 Yes No Ensembl:ENSG00000184856, GeneCard:C21orf74, HGNC:HGNC:16023, NCBI Gene:54143, RefSeq DNA:NT_011512, RefSeq RNA:NR_038400, RefSeq RNA:XR_001010, RefSeq RNA:XR_001423 No chr21 23470936 23488847 22098617 22116528 +PA25869 114036 HGNC:16414 ENSG00000227456 long intergenic non-protein coding RNA 310 LINC00310 Yes No Ensembl:ENSG00000227456, GenAtlas:C21orf82, GeneCard:C21orf82, HGNC:HGNC:16414, NCBI Gene:114036, RefSeq DNA:NT_011512, RefSeq RNA:NR_027266, RefSeq RNA:NR_027267, UCSC Genome Browser:NM_153751 No chr21 35552978 35562220 34180677 34189919 +PA144596256 197196 HGNC:28312 ENSG00000179219 long intergenic non-protein coding RNA 311 LINC00311 MGC22001 Yes No Ensembl:ENSG00000179219, GeneCard:TMEM148, HGNC:HGNC:28312, HumanCyc Gene:HS17232, NCBI Gene:197196, RefSeq DNA:NT_010498, RefSeq RNA:NR_038859, RefSeq RNA:XR_017979, RefSeq RNA:XR_040060, RefSeq RNA:XR_079514 No chr16 85316564 85321688 85282958 85288082 +PA30425 29931 HGNC:6662 long intergenic non-protein coding RNA 312 LINC00312 estrogen receptor repressor 10, nasopharyngeal carcinoma candidate 7 ERR-10, ERR10, NAG-7, NAG7 Yes No GenAtlas:LOH3CR2A, GeneCard:LOH3CR2A, HGNC:HGNC:6662, NCBI Gene:29931, OMIM:610485, RefSeq DNA:NT_022517, RefSeq RNA:NR_024065 No chr3 8613468 8616354 8571782 8574668 +PA25871 114038 HGNC:16416 ENSG00000185186 long intergenic non-protein coding RNA 313 LINC00313 Yes No Ensembl:ENSG00000185186, GenAtlas:C21orf84, GeneCard:C21orf84, HGNC:HGNC:16416, NCBI Gene:114038, RefSeq DNA:NT_011515, RefSeq RNA:NR_026863, UCSC Genome Browser:NM_153752 No chr21 44881974 44898103 43462094 43478223 +PA38408 246705 HGNC:16622 ENSG00000178457 long intergenic non-protein coding RNA 314 LINC00314 Yes No Ensembl:ENSG00000178457, GenAtlas:C21orf94, GeneCard:C21orf94, HGNC:HGNC:16622, HumanCyc Gene:HS17063, NCBI Gene:246705, RefSeq DNA:NT_011512, RefSeq RNA:NR_027246, UCSC Genome Browser:NM_145180 No chr21 29385682 29395528 28013363 28023209 +PA134956689 246704 HGNC:16621 ENSG00000184274 long intergenic non-protein coding RNA 315 LINC00315 Yes No Ensembl:ENSG00000184274, GeneCard:C21orf93, HGNC:HGNC:16621, NCBI Gene:246704, RefSeq DNA:NT_011515, RefSeq RNA:XR_041771, RefSeq RNA:XR_041772, RefSeq RNA:XR_041773, RefSeq RNA:XR_109683 No chr21 +PA134990064 388830 HGNC:19723 ENSG00000237664 long intergenic non-protein coding RNA 316 LINC00316 PRED59 Yes No Ensembl:ENSG00000237664, GeneCard:C21orf111, HGNC:HGNC:19723, NCBI Gene:388830, RefSeq RNA:XR_109684 No chr21 46758505 46761905 45338590 45341990 +PA134955566 378828 HGNC:23126 ENSG00000238265 long intergenic non-protein coding RNA 317 LINC00317 PRED89 Yes No Ensembl:ENSG00000238265, GeneCard:C21orf117, HGNC:HGNC:23126, NCBI Gene:378828, RefSeq RNA:NR_038872 No chr21 23095613 23109639 21723293 21737319 +PA134868446 284836 HGNC:19730 ENSG00000188660 long intergenic non-protein coding RNA 319 LINC00319 FLJ38036, PRED49 Yes No Ensembl:ENSG00000188660, GeneCard:C21orf125, HGNC:HGNC:19730, NCBI Gene:284836, RefSeq DNA:NT_011515, RefSeq RNA:NR_026960 No chr21 44869904 44873773 43450024 43453893 +PA134906880 387486 HGNC:19690 ENSG00000224924 long intergenic non-protein coding RNA 320 LINC00320 FLJ37539, PRED14 Yes No Ensembl:ENSG00000224924, GeneCard:C21orf131, HGNC:HGNC:19690, NCBI Gene:387486, RefSeq DNA:NT_011512, RefSeq RNA:NR_024090 No chr21 22114863 22175569 20742590 20803108 +PA134874142 284835 HGNC:19720 ENSG00000226496 long intergenic non-protein coding RNA 323 LINC00323 FLJ37173, PRED42 Yes No Ensembl:ENSG00000226496, GeneCard:C21orf130, HGNC:HGNC:19720, NCBI Gene:284835, RefSeq DNA:NT_011512, RefSeq RNA:NR_024100 No chr21 42513427 42524877 41141500 41148064 +PA142672227 284029 HGNC:26628 ENSG00000178977 long intergenic non-protein coding RNA 324 LINC00324 FLJ34790, MGC104931 Yes No Ensembl:ENSG00000178977, GeneCard:C17orf44, HGNC:HGNC:26628, HumanCyc Gene:HS17172, NCBI Gene:284029, RefSeq DNA:NT_010718, RefSeq RNA:NR_026951 No chr17 8123948 8127361 8220630 8224043 +PA25876 114042 HGNC:16425 ENSG00000182586 long intergenic non-protein coding RNA 334 LINC00334 Yes No Ensembl:ENSG00000182586, GenAtlas:C21orf89, GeneCard:LINC00334, HGNC:HGNC:16425, NCBI Gene:114042, RefSeq DNA:NT_011515, RefSeq RNA:XR_040130, RefSeq RNA:XR_040131, RefSeq RNA:XR_040132, UCSC Genome Browser:NM_153755 No chr21 +PA164717365 401253 HGNC:33813 ENSG00000197251 long intergenic non-protein coding RNA 336 LINC00336 FLJ43752 Yes No Ensembl:ENSG00000197251, GeneCard:C6orf227, HGNC:HGNC:33813, NCBI Gene:401253, RefSeq DNA:NT_007592, RefSeq Protein:NP_997380, RefSeq RNA:NM_207497, RefSeq RNA:NR_027908 No chr6 33553883 33561115 33586106 33593338 +PA144596511 148645 HGNC:28620 ENSG00000225077 long intergenic non-protein coding RNA 337 LINC00337 MGC40168 Yes No Ensembl:ENSG00000225077, GeneCard:LINC00337, HGNC:HGNC:28620, NCBI Gene:148645, RefSeq DNA:NT_021937, RefSeq RNA:XR_040929, RefSeq RNA:XR_040930, RefSeq RNA:XR_040931, RefSeq RNA:XR_109862 No chr1 6296300 6299504 6236240 6239444 +PA142672481 84791 HGNC:28227 ENSG00000153363 long intergenic non-protein coding RNA 467 LINC00467 MGC14801 Yes No Ensembl:ENSG00000153363, GeneCard:C1orf97, HGNC:HGNC:28227, HumanCyc Gene:HS14467, NCBI Gene:84791, RefSeq DNA:NT_167186, RefSeq RNA:NR_026761 No chr1 211556097 211605877 211382755 211432535 +PA142672237 283982 HGNC:26863 ENSG00000177338 long intergenic non-protein coding RNA 469 LINC00469 FLJ40319 Yes No Ensembl:ENSG00000177338, GeneCard:C17orf54, HGNC:HGNC:26863, NCBI Gene:283982, RefSeq DNA:NT_010783, RefSeq RNA:NR_027146 No chr17 71745409 71824676 73749270 73828537 +PA25594 56651 HGNC:1225 ENSG00000132204 long intergenic non-protein coding RNA 470 LINC00470 Yes No Comparative Toxicogenomics Database:56651, Ensembl:ENSG00000132204, GenAtlas:C18orf2, GeneCard:C18orf2, HGNC:HGNC:1225, HumanCyc Gene:HS05606, NCBI Gene:56651, RefSeq DNA:NT_010859, RefSeq RNA:NR_023925, RefSeq RNA:NR_023926, RefSeq RNA:NR_023927, RefSeq RNA:NR_023928, UCSC Genome Browser:NM_031416 No chr18 1268312 1359630 1268311 1359629 +PA162379204 151477 HGNC:28668 ENSG00000181798 long intergenic non-protein coding RNA 471 LINC00471 MGC43122 Yes No Ensembl:ENSG00000181798, GeneCard:C2orf52, HGNC:HGNC:28668, HumanCyc Gene:HS17730, ModBase:Q8N535, NCBI Gene:151477, RefSeq DNA:NT_005403, RefSeq RNA:NR_024079 No chr2 232373137 232379050 231508426 231514339 +PA134979543 79940 HGNC:21380 ENSG00000233237 long intergenic non-protein coding RNA 472 LINC00472 FLJ13189, dJ288M22.3 Yes No Ensembl:ENSG00000233237, GeneCard:C6orf155, HGNC:HGNC:21380, NCBI Gene:79940, RefSeq DNA:NT_007299, RefSeq RNA:NR_026807 No chr6 72120876 72130523 71407864 71420745 +PA134889928 90632 HGNC:21160 long intergenic non-protein coding RNA 473 LINC00473 bA142J11.1 Yes No GeneCard:C6orf176, HGNC:HGNC:21160, NCBI Gene:90632, RefSeq DNA:NT_025741, RefSeq RNA:NR_026860, RefSeq RNA:NR_026861 No chr6 166337536 166401527 165924048 165988039 +PA134935304 58483 HGNC:23367 ENSG00000204148 long intergenic non-protein coding RNA 474 LINC00474 EST-YD1 Yes No Ensembl:ENSG00000204148, GeneCard:C9orf27, HGNC:HGNC:23367, NCBI Gene:58483, RefSeq DNA:NT_008470, RefSeq RNA:NR_024032 No chr9 118650544 118687377 115888265 115925098 +PA134942836 158314 HGNC:23569 ENSG00000225511 long intergenic non-protein coding RNA 475 LINC00475 Yes No Ensembl:ENSG00000225511, GeneCard:C9orf44, HGNC:HGNC:23569, NCBI Gene:158314, RefSeq RNA:NR_027341 No chr9 94903749 94921890 92141467 92159608 +PA162377985 144360 HGNC:26557 ENSG00000197503 long intergenic non-protein coding RNA 477 LINC00477 family with sequence similarity 191, member B FAM191B, FLJ32894 Yes No Ensembl:ENSG00000197503, GeneCard:C12orf67, HGNC:HGNC:26557, NCBI Gene:144360, RefSeq DNA:NT_009714, RefSeq Protein:NP_653268, RefSeq RNA:NM_144667, RefSeq RNA:NR_029451 No chr12 24719898 24737102 24566964 24584168 +PA25829 388815 HGNC:1274 long intergenic non-protein coding RNA 478 LINC00478 Yes Yes GenAtlas:C21orf34, GeneCard:C21orf34, HGNC:HGNC:1274, NCBI Gene:388815, RefSeq DNA:NT_011512, RefSeq Protein:NP_001005732, RefSeq Protein:NP_001005733, RefSeq Protein:NP_001005734, RefSeq RNA:NM_001005732, RefSeq RNA:NM_001005733, RefSeq RNA:NM_001005734, RefSeq RNA:NR_027790, RefSeq RNA:NR_027791 No chr21 17442842 17982094 16070488 16631727 +PA134918742 150135 HGNC:19727 ENSG00000236384 long intergenic non-protein coding RNA 479 LINC00479 FLJ32835, PRED76 Yes No Ensembl:ENSG00000236384, GeneCard:C21orf129, HGNC:HGNC:19727, NCBI Gene:150135, RefSeq DNA:NT_011515, RefSeq RNA:NR_027272 No chr21 43131680 43135935 41711520 41715775 +PA142672238 284185 HGNC:26816 ENSG00000185168 long intergenic non-protein coding RNA 482 LINC00482 FLJ39421 Yes No Ensembl:ENSG00000185168, GeneCard:C17orf55, HGNC:HGNC:26816, ModBase:Q8N8I6, NCBI Gene:284185, RefSeq DNA:NT_010783, RefSeq Protein:NP_848614, RefSeq RNA:NM_178519, RefSeq RNA:NR_038080, UniProtKB:Q8N8I6 No chr17 79276624 79283048 81302824 81309248 +PA134878692 100129347 HGNC:27862 ENSG00000235641 long intergenic non-protein coding RNA 484 LINC00484 Yes No Ensembl:ENSG00000235641, GeneCard:LINC00484, HGNC:HGNC:27862, NCBI Gene:100129347, RefSeq DNA:NT_008470, RefSeq Protein:XP_001715492, RefSeq Protein:XP_001716071, RefSeq Protein:XP_001717665, RefSeq RNA:XM_001715440, RefSeq RNA:XM_001716019, RefSeq RNA:XM_001717613 No chr9 +PA144596508 677779 HGNC:32675 ENSG00000214381 long intergenic non-protein coding RNA 488 LINC00488 FLJ41232 Yes No Ensembl:ENSG00000214381, GeneCard:LINC00488, HGNC:HGNC:32675, NCBI Gene:677779, RefSeq DNA:NT_005612, RefSeq RNA:NR_026767 No chr3 108897012 108904108 109178165 109185261 +PA134953228 282566 HGNC:16019 long intergenic non-protein coding RNA 515 LINC00515 PRED21 Yes No GeneCard:C21orf71, HGNC:HGNC:16019, NCBI Gene:282566, RefSeq DNA:NT_011512, RefSeq RNA:NR_024092 No chr21 26955087 26955536 25582775 25583224 +PA134932418 400208 HGNC:19831 ENSG00000259091 long intergenic non-protein coding RNA 517 LINC00517 Yes No Ensembl:ENSG00000259091, GeneCard:LINC00517, HGNC:HGNC:19831, NCBI Gene:400208 No chr14 +PA144596499 221718 HGNC:28626 ENSG00000183674 long intergenic non-protein coding RNA 518 LINC00518 MGC40222 Yes No Ensembl:ENSG00000183674, GeneCard:C6orf218, HGNC:HGNC:28626, NCBI Gene:221718, RefSeq DNA:NT_007592, RefSeq Protein:NP_689951, RefSeq RNA:NM_152738, RefSeq RNA:NR_027793 No chr6 10428018 10435055 10427785 10434822 +PA134863572 161342 HGNC:19838 ENSG00000258955 long intergenic non-protein coding RNA 519 LINC00519 Yes No Ensembl:ENSG00000258955, GeneCard:LINC00519, HGNC:HGNC:19838, NCBI Gene:161342 No chr14 +PA134879587 645687 HGNC:19843 ENSG00000258791 long intergenic non-protein coding RNA 520 LINC00520 Yes No Comparative Toxicogenomics Database:55673, Ensembl:ENSG00000258791, GeneCard:LINC00520, HGNC:HGNC:19843, NCBI Gene:645687, RefSeq DNA:NT_026437, RefSeq RNA:NR_026796, RefSeq RNA:NR_026797 No chr14 56247853 56263392 55781135 55796674 +PA134917484 283601 HGNC:20117 ENSG00000196273 long intergenic non-protein coding RNA 523 LINC00523 Yes No Ensembl:ENSG00000196273, GeneCard:C14orf70, HGNC:HGNC:20117, NCBI Gene:283601, RefSeq DNA:NT_026437, RefSeq RNA:NR_024096 No chr14 101123605 101139081 100657268 100672744 +PA134959237 338002 HGNC:20118 ENSG00000259023 long intergenic non-protein coding RNA 524 LINC00524 Yes No Ensembl:ENSG00000259023, GeneCard:C14orf71, HGNC:HGNC:20118, NCBI Gene:338002 No chr14 +PA134992212 147525 HGNC:28278 ENSG00000264575 long intergenic non-protein coding RNA 526 LINC00526 HsT959, MGC17515 Yes No Comparative Toxicogenomics Database:147525, Ensembl:ENSG00000264575, GeneCard:C18orf18, HGNC:HGNC:28278, NCBI Gene:147525, RefSeq DNA:NT_010859, RefSeq RNA:NR_026849 No chr18 5236723 5238028 5236724 5238029 +PA25966 83647 HGNC:15544 ENSG00000236827 long intergenic non-protein coding RNA 529 LINC00529 Yes No Ensembl:ENSG00000236827, GenAtlas:C8orf8, GeneCard:LINC00529, HGNC:HGNC:15544, NCBI Gene:83647 No chr8 +PA134878064 387055 HGNC:18690 ENSG00000235570 long intergenic non-protein coding RNA 533 LINC00533 C6orf39, bA373N24.1 Yes No Ensembl:ENSG00000235570, GeneCard:LINC00533, HGNC:HGNC:18690, NCBI Gene:387055 No chr6 +PA134938928 80069 HGNC:21598 ENSG00000231690 long intergenic non-protein coding RNA 574 LINC00574 FLJ13162, dJ182D15.1 Yes No Ensembl:ENSG00000231690, GeneCard:C6orf208, HGNC:HGNC:21598, NCBI Gene:80069, RefSeq DNA:NT_025741, RefSeq RNA:NR_026780 No chr6 170190169 170202969 169790073 169802873 +PA134920074 439934 HGNC:21342 ENSG00000231782 long intergenic non-protein coding RNA 575 LINC00575 Yes No Ensembl:ENSG00000231782, GeneCard:C4orf11, HGNC:HGNC:21342, NCBI Gene:439934, RefSeq DNA:NT_016354, RefSeq RNA:NR_024087, RefSeq RNA:NR_024088 No chr4 83534266 83542590 82613113 82621437 +PA162380838 100113404 HGNC:31437 ENSG00000205636 long intergenic non-protein coding RNA 583 LINC00583 Yes No Ensembl:ENSG00000205636, GeneCard:LINC00583, HGNC:HGNC:31437, NCBI Gene:100113404, RefSeq RNA:NR_038194 No chr9 13927970 13945606 13927971 13945607 +PA134864225 414319 HGNC:31372 ENSG00000204250 long intergenic non-protein coding RNA 587 LINC00587 bA785H23.1 Yes No Ensembl:ENSG00000204250, GeneCard:C9orf107, HGNC:HGNC:31372, NCBI Gene:414319 No chr9 105309646 105419791 102519637 102657509 +PA142672334 26138 HGNC:24494 ENSG00000215117 long intergenic non-protein coding RNA 588 LINC00588 DKFZP434F122 Yes No Ensembl:ENSG00000215117, GeneCard:C8orf71, HGNC:HGNC:24494, NCBI Gene:26138, RefSeq DNA:NT_008183, RefSeq RNA:NR_026772 No chr8 58192102 58197290 57279543 57284731 +PA142672338 619351 HGNC:32299 ENSG00000251191 long intergenic non-protein coding RNA 589 LINC00589 Yes No Ensembl:ENSG00000251191, GeneCard:LINC00589, HGNC:HGNC:32299, NCBI Gene:619351, RefSeq DNA:NT_167187, RefSeq RNA:NR_026765 No chr8 29578775 29605625 29721259 29748109 +PA142672267 414926 HGNC:32382 long intergenic non-protein coding RNA 593 LINC00593 MGC42951 Yes No GeneCard:C15orf50, HGNC:HGNC:32382, NCBI Gene:414926, RefSeq DNA:NT_010194, RefSeq RNA:NR_026764 No chr15 70127573 70135306 69835234 69842967 +PA134949385 414243 HGNC:31430 ENSG00000230417 long intergenic non-protein coding RNA 595 LINC00595 Yes No Ensembl:ENSG00000230417, GeneCard:C10orf101, HGNC:HGNC:31430, NCBI Gene:414243 No chr10 80027085 80039970 78267328 78280213 +PA134905133 102724845 HGNC:23167 ENSG00000259334 long intergenic non-protein coding RNA 596 LINC00596 CNSLT1I7G Yes No Ensembl:ENSG00000259334, GeneCard:C14orf165, HGNC:HGNC:23167, NCBI Gene:102724845, RefSeq DNA:NT_026437, RefSeq RNA:NR_024081 No chr14 +PA25520 81698 HGNC:1193 long intergenic non-protein coding RNA 597 LINC00597 Yes No GenAtlas:C15orf5, GeneCard:C15orf5, HGNC:HGNC:1193, NCBI Gene:81698, RefSeq DNA:NT_010194, RefSeq RNA:NR_026813, UCSC Genome Browser:NM_030944 No chr15 77516235 77517746 77223893 77225404 +PA143485363 253128 HGNC:28621 ENSG00000214851 long intergenic non-protein coding RNA 612 LINC00612 FLJ41814, MGC40170 Yes No Ensembl:ENSG00000214851, GeneCard:C12orf33, HGNC:HGNC:28621, NCBI Gene:253128, RefSeq DNA:NT_009714, RefSeq RNA:NR_034140, RefSeq RNA:XR_041988, RefSeq RNA:XR_041989, RefSeq RNA:XR_041990 No chr12 9208185 9217666 9055589 9065070 +PA143485367 439916 HGNC:26343 ENSG00000196243 long intergenic non-protein coding RNA 615 LINC00615 FLJ25378 Yes No Ensembl:ENSG00000196243, GeneCard:C12orf37, HGNC:HGNC:26343, NCBI Gene:439916, RefSeq DNA:NT_019546, RefSeq RNA:NR_038868, RefSeq RNA:XR_041585, RefSeq RNA:XR_041586, RefSeq RNA:XR_041587 No chr12 91311800 91342446 90918023 90948669 +PA134956713 145249 HGNC:20110 long intergenic non-protein coding RNA 618 LINC00618 Yes No GeneCard:C14orf63, HGNC:HGNC:20110, NCBI Gene:145249 No chr14 97409859 97411727 96943579 96945394 +PA134898117 414260 HGNC:31657 long intergenic non-protein coding RNA 619 LINC00619 bA168P8.1 Yes No GeneCard:C10orf136, HGNC:HGNC:31657, NCBI Gene:414260, RefSeq DNA:NT_033985, RefSeq Protein:XP_001717056, RefSeq Protein:XP_931476, RefSeq Protein:XP_941961, RefSeq RNA:NR_033923, RefSeq RNA:XM_001717004, RefSeq RNA:XM_926383, RefSeq RNA:XM_936868 No chr10 44340754 44346070 43845306 43850622 +PA134988015 105370683 HGNC:20121 ENSG00000259717 long intergenic non-protein coding RNA 677 LINC00677 Yes No Ensembl:ENSG00000259717, GeneCard:C14orf74, HGNC:HGNC:20121, NCBI Gene:105370683 No chr14 +PA164723653 283981 HGNC:27560 ENSG00000226179 long intergenic non-protein coding RNA 685 LINC00685 OTTHUMT00000055574 Yes No Ensembl:ENSG00000226179, GeneCard:PPP2R3B-AS1, HGNC:HGNC:27560, NCBI Gene:283981, RefSeq DNA:NT_167193, RefSeq DNA:NT_167201, RefSeq RNA:NR_027231, RefSeq RNA:NR_027232 No chrX 281385 282067 319145 321332 +PA25797 140865 HGNC:16221 ENSG00000237687 long intergenic non-protein coding RNA 686 LINC00686 bA93B14.2 Yes No Ensembl:ENSG00000237687, GenAtlas:C20orf90, GeneCard:C20orf90, HGNC:HGNC:16221, NCBI Gene:140865 No chr20 +PA25772 728450 HGNC:16194 ENSG00000228422 long intergenic non-protein coding RNA 687 LINC00687 dJ1012F16.1 Yes No Ensembl:ENSG00000228422, GenAtlas:C20orf61, GeneCard:C20orf61, HGNC:HGNC:16194, NCBI Gene:728450, RefSeq DNA:NT_011387, RefSeq RNA:XR_078671, RefSeq RNA:XR_079416, RefSeq RNA:XR_109647 No chr20 11790635 11852646 11809987 11870715 +PA164717255 100128378 HGNC:34426 long intergenic non-protein coding RNA 696 LINC00696 Yes No GeneCard:C3orf74, HGNC:HGNC:34426, NCBI Gene:100128378, RefSeq DNA:NT_022517, RefSeq RNA:NR_027331, RefSeq RNA:XR_078286, RefSeq RNA:XR_078955, RefSeq RNA:XR_079144 No chr3 52096110 52099128 52062094 52065112 +PA166048982 84856 HGNC:28269 ENSG00000185904 long intergenic non-protein coding RNA 839 LINC00839 Yes No Ensembl:ENSG00000185904, HGNC:HGNC:28269, NCBI Gene:84856 No chr10 42970939 42990785 42475491 42495337 +PA142672377 84657 HGNC:29904 ENSG00000231177 long intergenic non-protein coding RNA 852 LINC00852 GHRL antisense RNA 2 (non-protein coding) GHRL-AS2, NAG73 Yes No Ensembl:ENSG00000231177, GeneCard:C3orf42, HGNC:HGNC:29904, NCBI Gene:84657, RefSeq DNA:NT_022517, RefSeq RNA:NR_026829 No chr3 10326103 10327430 10284419 10285746 +PA142672482 554279 HGNC:21901 ENSG00000203721 long intergenic non-protein coding RNA 862 LINC00862 Yes No Ensembl:ENSG00000203721, GeneCard:C1orf98, HGNC:HGNC:21901, NCBI Gene:554279, RefSeq RNA:NR_040064 No chr1 200311672 200342920 200342544 200373792 +PA142672235 283994 HGNC:27562 ENSG00000267535 long intergenic non-protein coding RNA 868 LINC00868 Yes No Ensembl:ENSG00000267535, GeneCard:C17orf52, HGNC:HGNC:27562, NCBI Gene:283994 No chr17 +PA142671821 57234 HGNC:29050 ENSG00000277147 long intergenic non-protein coding RNA 869 LINC00869 KIAA0493 Yes No Ensembl:ENSG00000277147, GeneCard:FAM91A2, HGNC:HGNC:29050, NCBI Gene:57234, RefSeq DNA:NT_004487, RefSeq RNA:XR_040635 No chr1 149576262 149672733 149607012 149679523 +PA142672388 23434 HGNC:17099 ENSG00000198685 long intergenic non-protein coding RNA 1565 LINC01565 C3orf27, chromosome 3 open reading frame 27 GR6 Yes No Ensembl:ENSG00000198685, GeneCard:C3orf27, HGNC:HGNC:17099, ModBase:O15544, NCBI Gene:23434, RefSeq DNA:NT_005612, RefSeq Protein:NP_031380, RefSeq RNA:NM_007354, UniProtKB:O15544 No chr3 128290843 128294929 128572000 128576086 +PA166123700 283914 HGNC:27555 ENSG00000259841 long intergenic non-protein coding RNA 1566 LINC01566 Yes No Ensembl:ENSG00000259841, HGNC:HGNC:27555, NCBI Gene:283914 No +PA162394087 84894 HGNC:21205 ENSG00000169783 leucine rich repeat and Ig domain containing 1 LINGO1 FLJ14594, LERN1, LRRN6A Yes No Ensembl:ENSG00000169783, GeneCard:LINGO1, HGNC:HGNC:21205, HumanCyc Gene:HS15813, ModBase:Q96FE5, NCBI Gene:84894, OMIM:609791, RefSeq DNA:NT_010194, RefSeq Protein:NP_116197, RefSeq RNA:NM_032808, UniProtKB:Q96FE5 No chr15 77905369 77988490 77613024 77820900 +PA162394096 158038 HGNC:21207 ENSG00000174482 leucine rich repeat and Ig domain containing 2 LINGO2 LERN3, LRRN6C Yes No Ensembl:ENSG00000174482, GeneCard:LINGO2, HGNC:HGNC:21207, HumanCyc Gene:HS16348, ModBase:Q7L985, NCBI Gene:158038, OMIM:609793, RefSeq DNA:NT_008413, RefSeq Protein:NP_689783, RefSeq RNA:NM_152570, UniProtKB:Q7L985 No chr9 27948084 29212998 27937617 29213981 +PA162394097 645191 HGNC:21206 ENSG00000220008 leucine rich repeat and Ig domain containing 3 LINGO3 LERN2, LRRN6B Yes No Ensembl:ENSG00000220008, GeneCard:LINGO3, HGNC:HGNC:21206, ModBase:P0C6S8, NCBI Gene:645191, OMIM:609792, RefSeq DNA:NT_011255, RefSeq Protein:NP_001094861, RefSeq RNA:NM_001101391, UniProtKB:P0C6S8 No chr19 2289774 2308156 2289775 2308157 +PA162394098 339398 HGNC:31814 ENSG00000213171 leucine rich repeat and Ig domain containing 4 LINGO4 LRRN6D Yes No Ensembl:ENSG00000213171, GeneCard:LINGO4, HGNC:HGNC:31814, ModBase:Q6UY18, NCBI Gene:339398, OMIM:609794, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004432, RefSeq RNA:NM_001004432, UniProtKB:Q6UY18 No chr1 151772765 151777882 151800264 151805442 +PA142671544 55180 HGNC:30922 ENSG00000140471 lines homolog 1 LINS1 LINS1, lines homolog (Drosophila) LINS, MRT27, WINS1 Yes No Comparative Toxicogenomics Database:55180, Ensembl:ENSG00000140471, GeneCard:LINS1, HGNC:HGNC:30922, HumanCyc Gene:HS13833, ModBase:Q8NG48, NCBI Gene:55180, OMIM:610350, RefSeq DNA:NT_010274, RefSeq Protein:NP_001035704, RefSeq Protein:NP_001035705, RefSeq Protein:NP_001035706, RefSeq Protein:NP_060618, RefSeq RNA:NM_001040614, RefSeq RNA:NM_001040615, RefSeq RNA:NM_001040616, RefSeq RNA:NM_018148, UniProtKB:Q8NG48 No chr15 101109428 101142445 100566914 100602440 +PA30391 3988 HGNC:6617 ENSG00000107798 lipase A, lysosomal acid type LIPA """Wolman disease"", ""lipase A, lysosomal acid, cholesterol esterase"", ""lysosomal acid lipase"", ""sterol esterase""" CESD, LAL Yes No Comparative Toxicogenomics Database:3988, Ensembl:ENSG00000107798, GenAtlas:LIPA, GeneCard:LIPA, HGNC:HGNC:6617, HumanCyc Gene:HS03027, ModBase:P38571, NCBI Gene:3988, OMIM:278000, RefSeq DNA:NG_008194, RefSeq DNA:NT_030059, RefSeq Protein:NP_000226, RefSeq Protein:NP_001121077, RefSeq RNA:NM_000235, RefSeq RNA:NM_001127605, UCSC Genome Browser:NM_000235, UniProtKB:P38571 No chr10 90973326 91011660 89213569 89252039 +PA30392 3989 HGNC:6618 lipase B, lysosomal acid LIPB Yes No GenAtlas:LIPB, GeneCard:LIPB, HGNC:HGNC:6618, NCBI Gene:3989, OMIM:247980 No chr16 +PA230 3990 HGNC:6619 ENSG00000166035 lipase C, hepatic type LIPC """Triacylglycerol lipase"", ""lipase, hepatic""" HL, HTGL Yes Yes Comparative Toxicogenomics Database:3990, Ensembl:ENSG00000166035, GenAtlas:LIPC, GeneCard:LIPC, HGNC:HGNC:6619, HumanCyc Gene:HS09323, ModBase:P11150, NCBI Gene:3990, OMIM:125853, OMIM:151670, OMIM:612797, RefSeq DNA:NG_011465, RefSeq DNA:NT_010194, RefSeq Protein:NP_000227, RefSeq RNA:NM_000236, UCSC Genome Browser:NM_000236, UniProtKB:A6H8L5, UniProtKB:P11150 No chr15 58702953 58861073 58410754 58568952 +PA30393 3991 HGNC:6621 ENSG00000079435 lipase E, hormone sensitive type LIPE lipase, hormone-sensitive HSL Yes No Comparative Toxicogenomics Database:3991, Ensembl:ENSG00000079435, GenAtlas:LIPE, GeneCard:LIPE, HGNC:HGNC:6621, HumanCyc Gene:HS01328, ModBase:Q05469, NCBI Gene:3991, OMIM:151750, RefSeq DNA:NT_011109, RefSeq Protein:NP_005348, RefSeq RNA:NM_005357, UCSC Genome Browser:NM_005357, UniProtKB:Q05469 No chr19 42905664 42931578 42401507 42427426 +PA30394 8513 HGNC:6622 ENSG00000182333 lipase F, gastric type LIPF """gastric triacylglycerol lipase"", ""lipase, gastric""" HGL, HLAL Yes No Comparative Toxicogenomics Database:8513, Ensembl:ENSG00000182333, GenAtlas:LIPF, GeneCard:LIPF, HGNC:HGNC:6622, HumanCyc Gene:HS04351, ModBase:P07098, NCBI Gene:8513, OMIM:601980, RefSeq DNA:NT_030059, RefSeq Protein:NP_001185757, RefSeq Protein:NP_001185758, RefSeq Protein:NP_001185759, RefSeq Protein:NP_004181, RefSeq RNA:NM_001198828, RefSeq RNA:NM_001198829, RefSeq RNA:NM_001198830, RefSeq RNA:NM_004190, UCSC Genome Browser:NM_004190, UniProtKB:P07098, UniProtKB:Q5VXI7 No chr10 90424146 90438572 88664389 88678815 +PA30395 9388 HGNC:6623 ENSG00000101670 lipase G, endothelial type LIPG lipase, endothelial EDL Yes No Comparative Toxicogenomics Database:9388, Ensembl:ENSG00000101670, GenAtlas:LIPG, GeneCard:LIPG, HGNC:HGNC:6623, HumanCyc Gene:HS02298, ModBase:Q9Y5X9, NCBI Gene:9388, OMIM:603684, RefSeq DNA:NT_010966, RefSeq Protein:NP_006024, RefSeq RNA:NM_006033, UCSC Genome Browser:NM_006033, UniProtKB:Q9Y5X9 No chr18 47087069 47119278 49560699 49592908 +PA134934352 200879 HGNC:18483 ENSG00000163898 lipase H LIPH """lipase, member H"", ""phospholipase A(1)""" LPDLR, PLA1B, mPA-PLA1, mPA-PLA1alpha Yes No Comparative Toxicogenomics Database:200879, Ensembl:ENSG00000163898, GeneCard:LIPH, HGNC:HGNC:18483, HumanCyc Gene:HS08961, ModBase:Q8WWY8, NCBI Gene:200879, OMIM:604379, OMIM:607365, RefSeq DNA:NG_012183, RefSeq DNA:NT_005612, RefSeq Protein:NP_640341, RefSeq RNA:NM_139248, UniProtKB:Q8WWY8 No chr3 185225570 185270369 185506262 185552661 +PA38695 149998 HGNC:18821 ENSG00000188992 lipase I LIPI """cancer/testis antigen 17"", ""lipase, member I"", ""membrane-associated phospholipase A1 beta""" CT17, LPDL, PLA1C, PRED5, mPA-PLA1beta Yes No Comparative Toxicogenomics Database:149998, Ensembl:ENSG00000188992, GenAtlas:LIPI, GeneCard:LIPI, HGNC:HGNC:18821, NCBI Gene:149998, OMIM:145750, OMIM:609252, RefSeq DNA:NG_021434, RefSeq DNA:NT_011512, RefSeq Protein:NP_945347, RefSeq RNA:NM_198996, UCSC Genome Browser:NM_145317, UniProtKB:Q5D1Q2, UniProtKB:Q6XZB0 No chr21 15480784 15583361 14108813 14210953 +PA162394099 142910 HGNC:21773 ENSG00000204022 lipase family member J LIPJ lipase, family member J LIPL1, bA425M17.2 Yes No Ensembl:ENSG00000204022, GeneCard:LIPJ, HGNC:HGNC:21773, ModBase:Q5W064, NCBI Gene:142910, RefSeq DNA:NT_030059, RefSeq Protein:NP_001010939, RefSeq RNA:NM_001010939, UniProtKB:Q5W064 No chr10 90346519 90366733 88583914 88623161 +PA162394100 643414 HGNC:23444 ENSG00000204021 lipase family member K LIPK lipase, family member K LIPL2, bA186O14.2 Yes No Ensembl:ENSG00000204021, GeneCard:LIPK, HGNC:HGNC:23444, ModBase:Q5VXJ0, NCBI Gene:643414, RefSeq DNA:NT_030059, RefSeq Protein:NP_001073987, RefSeq RNA:NM_001080518, UniProtKB:Q5VXJ0 No chr10 90484301 90512513 88706224 88753092 +PA162394101 340654 HGNC:23455 ENSG00000173239 lipase family member M LIPM lipase, family member M LIPL3, bA304I5.1 Yes No Ensembl:ENSG00000173239, GeneCard:LIPM, HGNC:HGNC:23455, ModBase:Q5VYY2, NCBI Gene:340654, RefSeq DNA:NT_030059, RefSeq Protein:NP_001121687, RefSeq RNA:NM_001128215, UniProtKB:B2RXK7, UniProtKB:Q5VYY2 No chr10 90562487 90580315 88802730 88820857 +PA162394123 643418 HGNC:23452 ENSG00000204020 lipase family member N LIPN lipase, family member N LIPL4, bA186O14.3 Yes No Ensembl:ENSG00000204020, GeneCard:LIPN, HGNC:HGNC:23452, ModBase:Q5VXI9, NCBI Gene:643418, RefSeq DNA:NT_030059, RefSeq Protein:NP_001095939, RefSeq RNA:NM_001102469, UniProtKB:Q5VXI9 No chr10 90519786 90538648 88757226 88783662 +PA134940073 51601 HGNC:29569 ENSG00000144182 lipoyltransferase 1 LIPT1 MGC12290, MGC13378 Yes No Ensembl:ENSG00000144182, GeneCard:LIPT1, HGNC:HGNC:29569, ModBase:Q9Y234, NCBI Gene:51601, OMIM:610284, RefSeq DNA:NT_022171, RefSeq Protein:NP_001191759, RefSeq Protein:NP_057013, RefSeq Protein:NP_660197, RefSeq Protein:NP_660198, RefSeq Protein:NP_660199, RefSeq Protein:NP_660200, RefSeq RNA:NM_001204830, RefSeq RNA:NM_015929, RefSeq RNA:NM_145196, RefSeq RNA:NM_145197, RefSeq RNA:NM_145198, RefSeq RNA:NM_145199, RefSeq RNA:NR_037935, RefSeq RNA:NR_037936, UniProtKB:Q9Y234 No chr2 99771418 99779620 99154955 99163157 +PA165543447 387787 HGNC:37216 ENSG00000175536 lipoyl(octanoyl) transferase 2 LIPT2 lipoate-protein ligase B, lipoyl(octanoyl) transferase 2 (putative), lipoyl/octanoyl transferase, octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase Yes No Ensembl:ENSG00000175536, GeneCard:LIPT2, HGNC:HGNC:37216, NCBI Gene:387787, RefSeq DNA:NT_167190, RefSeq Protein:NP_001138341, RefSeq RNA:NM_001144869, UniProtKB:A6NK58 No chr11 74202923 74204755 74490727 74493972 +PA134879224 9516 HGNC:16841 ENSG00000189067 lipopolysaccharide induced TNF factor LITAF lipopolysaccharide-induced TNF factor FLJ38636, PIG7, SIMPLE, TP53I7 Yes No Comparative Toxicogenomics Database:9516, Ensembl:ENSG00000189067, GeneCard:LITAF, HGNC:HGNC:16841, NCBI Gene:9516, OMIM:601098, OMIM:603795, RefSeq DNA:NG_009008, RefSeq DNA:NT_010393, RefSeq Protein:NP_001129944, RefSeq Protein:NP_001129945, RefSeq Protein:NP_004853, RefSeq RNA:NM_001136472, RefSeq RNA:NM_001136473, RefSeq RNA:NM_004862, RefSeq RNA:NR_024320, UniProtKB:Q99732 No chr16 11641578 11681322 11547722 11636377 +PA166182672 101929989 HGNC:53927 ENSG00000283516 LITAF domain containing LITAFD Yes No Ensembl:ENSG00000283516, HGNC:HGNC:53927, NCBI Gene:101929989 No 0 0 0 0 +PA38353 167410 HGNC:18581 ENSG00000145721 limb and CNS expressed 1 LIX1 Lix1 homolog (chicken), Lowfat homolog (Drosophila) C5orf11, Lft Yes No Ensembl:ENSG00000145721, GenAtlas:LIX1, GeneCard:LIX1, HGNC:HGNC:18581, HumanCyc Gene:HS14103, NCBI Gene:167410, OMIM:610466, RefSeq DNA:NT_034772, RefSeq Protein:NP_694966, RefSeq RNA:NM_153234, UniProtKB:Q8N485 No chr5 96427574 96478520 97091870 97142816 +PA134915428 128077 HGNC:28715 ENSG00000271601 limb and CNS expressed 1 like LIX1L Lix1 homolog (chicken) like, Lix1 homolog (mouse)-like MGC46719 Yes No Ensembl:ENSG00000271601, GeneCard:LIX1L, HGNC:HGNC:28715, HumanCyc Gene:HS14402, ModBase:Q8IVB5, NCBI Gene:128077, RefSeq DNA:NT_167185, RefSeq Protein:NP_714924, RefSeq RNA:NM_153713, UniProtKB:Q8IVB5 No chr1 145477059 145501670 145933423 145958038 +PA162378956 198437 HGNC:33718 ENSG00000171695 LKAAEAR motif containing 1 LKAAEAR1 chromosome 20 open reading frame 201 C20orf201 Yes No Ensembl:ENSG00000171695, GeneCard:C20orf201, HGNC:HGNC:33718, NCBI Gene:198437, RefSeq DNA:NT_011333, RefSeq Protein:NP_001007126, RefSeq RNA:NM_001007125, UniProtKB:Q8TD35 No chr20 62714729 62715712 64083375 64084956 +PA134972511 135927 HGNC:21750 ENSG00000165131 LLLL and CFNLAS motif containing 1 LLCFC1 chromosome 7 open reading frame 34 C7orf34, CTM-1 Yes No Ensembl:ENSG00000165131, GeneCard:C7orf34, HGNC:HGNC:21750, NCBI Gene:135927, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_849151, RefSeq RNA:NM_178829, UniProtKB:Q96L11 No chr7 142636603 142637957 142939506 142940870 +PA30396 3996 HGNC:6628 ENSG00000131899 LLGL scribble cell polarity complex component 1 LLGL1 lethal giant larvae homolog 1 (Drosophila) DLG4, HUGL, HUGL-1, LLGL, Lgl1, Mgl1 Yes No Comparative Toxicogenomics Database:3996, Ensembl:ENSG00000131899, GenAtlas:LLGL1, GeneCard:LLGL1, HGNC:HGNC:6628, HumanCyc Gene:HS05582, NCBI Gene:3996, OMIM:600966, RefSeq DNA:NT_010718, RefSeq Protein:NP_004131, RefSeq RNA:NM_004140, UCSC Genome Browser:NM_004140, UniProtKB:Q15334 No chr17 18128907 18148189 18225593 18244875 +PA30397 3993 HGNC:6629 ENSG00000073350 LLGL scribble cell polarity complex component 2 LLGL2 lethal giant larvae homolog 2 (Drosophila) HGL, Hugl-2 Yes No Comparative Toxicogenomics Database:3993, Ensembl:ENSG00000073350, GenAtlas:LLGL2, GeneCard:LLGL2, HGNC:HGNC:6629, HumanCyc Gene:HS12223, ModBase:Q6P1M3, NCBI Gene:3993, RefSeq DNA:NT_010783, RefSeq Protein:NP_001015002, RefSeq Protein:NP_001026973, RefSeq Protein:NP_004515, RefSeq RNA:NM_001015002, RefSeq RNA:NM_001031803, RefSeq RNA:NM_004524, UCSC Genome Browser:NM_004524, UniProtKB:A0PJJ0, UniProtKB:Q6P1M3 No chr17 73521783 73571290 75525080 75575209 +PA164722116 84298 HGNC:28229 ENSG00000139233 LLP homolog, long-term synaptic facilitation factor LLPH """LLP homolog, long-term synaptic facilitation (Aplysia)"", ""human LAPS18-like protein""" C12orf31, MGC14817, hLLP Yes No Ensembl:ENSG00000139233, GeneCard:LLPH, HGNC:HGNC:28229, HumanCyc Gene:HS13768, ModBase:Q9BRT6, NCBI Gene:84298, RefSeq DNA:NT_029419, RefSeq Protein:NP_115714, RefSeq RNA:NM_032338, UniProtKB:Q9BRT6 No chr12 66516849 66524533 66123069 66130753 +PA30399 3998 HGNC:6631 ENSG00000074695 lectin, mannose binding 1 LMAN1 """endoplasmic reticulum-golgi intermediate compartment protein 53"", ""lectin, mannose-binding, 1""" ERGIC-53, ERGIC53, F5F8D, FMFD1, MCFD1, MR60, gp58 Yes No Comparative Toxicogenomics Database:3998, Ensembl:ENSG00000074695, GenAtlas:LMAN1, GeneCard:LMAN1, HGNC:HGNC:6631, HumanCyc Gene:HS01147, ModBase:Q9UQG6, NCBI Gene:3998, OMIM:227300, OMIM:601567, RefSeq DNA:NG_012097, RefSeq DNA:NT_025028, RefSeq Protein:NP_005561, RefSeq RNA:NM_005570, UCSC Genome Browser:NM_005570, UniProtKB:P49257 No chr18 56995055 57026508 59327823 59359276 +PA30400 79748 HGNC:6632 ENSG00000140506 lectin, mannose binding 1 like LMAN1L lectin, mannose-binding, 1 like ERGIC-53L, ERGL Yes No Ensembl:ENSG00000140506, GenAtlas:LMAN1L, GeneCard:LMAN1L, HGNC:HGNC:6632, ModBase:Q9HAT1, NCBI Gene:79748, OMIM:609548, RefSeq DNA:NT_010194, RefSeq Protein:NP_068591, RefSeq RNA:NM_021819, UCSC Genome Browser:NM_021819, UniProtKB:Q9HAT1 No chr15 75105194 75118099 74812853 74825758 +PA25919 10960 HGNC:16986 ENSG00000169223 lectin, mannose binding 2 LMAN2 lectin, mannose-binding 2 C5orf8, GP36B, VIP36 Yes No Comparative Toxicogenomics Database:10960, Ensembl:ENSG00000169223, GeneCard:LMAN2, HGNC:HGNC:16986, HumanCyc Gene:HS09907, ModBase:Q12907, NCBI Gene:10960, OMIM:609551, RefSeq DNA:NT_023133, RefSeq Protein:NP_006807, RefSeq RNA:NM_006816, UCSC Genome Browser:NM_006816, UniProtKB:Q12907 No chr5 176758563 176778885 177331562 177351884 +PA134937652 81562 HGNC:19263 ENSG00000114988 lectin, mannose binding 2 like LMAN2L """VIP36-like"", ""lectin, mannose-binding 2-like""" DKFZp564L2423, VIPL Yes No Comparative Toxicogenomics Database:81562, Ensembl:ENSG00000114988, GeneCard:LMAN2L, HGNC:HGNC:19263, HumanCyc Gene:HS03820, ModBase:Q9H0V9, NCBI Gene:81562, OMIM:609552, RefSeq DNA:NT_022171, RefSeq Protein:NP_001135764, RefSeq Protein:NP_110432, RefSeq RNA:NM_001142292, RefSeq RNA:NM_030805, RefSeq RNA:NR_024518, RefSeq RNA:NR_024519, RefSeq RNA:NR_024520, RefSeq RNA:NR_024521, UniProtKB:Q9H0V9 No chr2 97371666 97405813 96705929 96740092 +PA25945 64327 HGNC:13243 ENSG00000105983 limb development membrane protein 1 LMBR1 limb region 1 homolog (mouse) ACHP, C7orf2, FLJ11665, ZRS Yes No Comparative Toxicogenomics Database:64327, Ensembl:ENSG00000105983, GenAtlas:LMBR1, GeneCard:LMBR1, HGNC:HGNC:13243, HumanCyc Gene:HS12619, ModBase:Q8WVP7, NCBI Gene:64327, OMIM:174500, OMIM:186200, OMIM:200500, OMIM:605522, RefSeq DNA:NG_009240, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_071903, RefSeq RNA:NM_022458, UCSC Genome Browser:NM_022458, UniProtKB:Q8WVP7 No chr7 156470537 156685902 156673354 156893208 +PA142671545 55716 HGNC:18268 ENSG00000139636 limb development membrane protein 1 like LMBR1L limb development membrane protein 1-like, limb region 1 homolog (mouse)-like FLJ10494, KIAA1174 Yes No Comparative Toxicogenomics Database:55716, Ensembl:ENSG00000139636, GeneCard:LMBR1L, HGNC:HGNC:18268, HumanCyc Gene:HS06643, ModBase:Q6UX01, NCBI Gene:55716, OMIM:610007, RefSeq DNA:NT_029419, RefSeq Protein:NP_060583, RefSeq RNA:NM_018113, UniProtKB:Q6UX01 No chr12 49490334 49504683 49096551 49111535 +PA134948847 55788 HGNC:23038 ENSG00000168216 LMBR1 domain containing 1 LMBRD1 C6orf209, FLJ11240, bA810I22.1, cblF Yes No Comparative Toxicogenomics Database:55788, Ensembl:ENSG00000168216, GeneCard:LMBRD1, HGNC:HGNC:23038, HumanCyc Gene:HS09709, NCBI Gene:55788, OMIM:277380, OMIM:612625, RefSeq DNA:NG_016012, RefSeq DNA:NT_007299, RefSeq Protein:NP_060838, RefSeq RNA:NM_018368, UniProtKB:Q9NUN5 No chr6 70385641 70507049 69675749 69797157 +PA142671541 92255 HGNC:25287 ENSG00000164187 LMBR1 domain containing 2 LMBRD2 DKFZp434H2226 Yes No Ensembl:ENSG00000164187, GeneCard:LMBRD2, HGNC:HGNC:25287, ModBase:Q68DH5, NCBI Gene:92255, RefSeq DNA:NT_006576, RefSeq Protein:NP_001007528, RefSeq RNA:NM_001007527, UniProtKB:Q68DH5 No chr5 36103414 36152015 36098550 36151961 +PA30401 29995 HGNC:6633 ENSG00000071282 LIM and cysteine rich domains 1 LMCD1 LIM and cysteine-rich domains 1, dyxin Yes No Comparative Toxicogenomics Database:29995, Ensembl:ENSG00000071282, GenAtlas:LMCD1, GeneCard:LMCD1, HGNC:HGNC:6633, HumanCyc Gene:HS01030, ModBase:Q9NZU5, NCBI Gene:29995, OMIM:604859, RefSeq DNA:NT_022517, RefSeq Protein:NP_055398, RefSeq RNA:NM_014583, UCSC Genome Browser:NM_014583, UniProtKB:Q9NZU5 No chr3 8543493 8609811 8501807 8568125 +PA25540 64788 HGNC:14154 ENSG00000103227 lipase maturation factor 1 LMF1 C16orf26, FLJ12681, FLJ22302, JFP11, TMEM112, TMEM112A Yes No Ensembl:ENSG00000103227, GenAtlas:TMEM112, GeneCard:LMF1, HGNC:HGNC:14154, HumanCyc Gene:HS12515, ModBase:Q96S06, NCBI Gene:64788, OMIM:246650, OMIM:611761, RefSeq DNA:NG_021286, RefSeq DNA:NT_010393, RefSeq Protein:NP_073610, RefSeq RNA:NM_022773, RefSeq RNA:NR_033645, RefSeq RNA:NR_033646, RefSeq RNA:NR_036442, UniProtKB:B3KS80, UniProtKB:Q96S06 No chr16 903634 1031318 853632 981615 +PA162394144 91289 HGNC:25096 ENSG00000100258 lipase maturation factor 2 LMF2 TMEM112B, TMEM153 Yes No Comparative Toxicogenomics Database:91289, Ensembl:ENSG00000100258, GeneCard:LMF2, HGNC:HGNC:25096, HumanCyc Gene:HS12398, NCBI Gene:91289, RefSeq DNA:NT_011526, RefSeq Protein:NP_149977, RefSeq RNA:NM_033200, UniProtKB:Q9BU23 No chr22 50941376 50946148 50502947 50507840 +PA30402 89782 HGNC:15991 ENSG00000185621 leishmanolysin like peptidase LMLN leishmanolysin-like (metallopeptidase M8 family) Gp63, LMNL1, Msp Yes No Ensembl:ENSG00000185621, GenAtlas:LMLN, GeneCard:LMLN, HGNC:HGNC:15991, ModBase:Q96KR4, NCBI Gene:89782, OMIM:609380, RefSeq DNA:NT_029928, RefSeq Protein:NP_001129521, RefSeq Protein:NP_149018, RefSeq RNA:NM_001136049, RefSeq RNA:NM_033029, RefSeq RNA:NR_026786, RefSeq RNA:NR_026787, UCSC Genome Browser:NM_033029, UniProtKB:B4DR62, UniProtKB:Q96KR4 No chr3 197687071 197770591 197960200 198043720 +PA231 4000 HGNC:6636 ENSG00000160789 lamin A/C LMNA mandibuloacral dysplasia type A, progerin CMD1A, HGPS, LGMD1B, LMN1, LMNL1, MADA, PRO1 Yes No Comparative Toxicogenomics Database:4000, Ensembl:ENSG00000160789, GenAtlas:LMNA, GeneCard:LMNA, HGNC:HGNC:6636, HumanCyc Gene:HS08535, ModBase:P02545, NCBI Gene:4000, OMIM:115200, OMIM:150330, OMIM:151660, OMIM:159001, OMIM:176670, OMIM:181350, OMIM:248370, OMIM:275210, OMIM:277700, OMIM:605588, OMIM:610140, RefSeq DNA:NG_008692, RefSeq DNA:NT_004487, RefSeq Protein:NP_005563, RefSeq Protein:NP_733821, RefSeq Protein:NP_733822, RefSeq RNA:NM_005572, RefSeq RNA:NM_170707, RefSeq RNA:NM_170708, UCSC Genome Browser:NM_005572, UniProtKB:P02545 No chr1 156052369 156109880 156082546 156140089 +PA30403 4001 HGNC:6637 ENSG00000113368 lamin B1 LMNB1 Yes No Comparative Toxicogenomics Database:4001, Ensembl:ENSG00000113368, GenAtlas:LMNB1, GeneCard:LMNB1, HGNC:HGNC:6637, HumanCyc Gene:HS03676, ModBase:P20700, NCBI Gene:4001, OMIM:150340, OMIM:169500, RefSeq DNA:NG_008360, RefSeq DNA:NT_034772, RefSeq Protein:NP_001185486, RefSeq Protein:NP_005564, RefSeq RNA:NM_001198557, RefSeq RNA:NM_005573, UCSC Genome Browser:NM_005573, UniProtKB:P20700 No chr5 126112315 126172712 126776623 126837020 +PA30404 84823 HGNC:6638 ENSG00000176619 lamin B2 LMNB2 LMN2 Yes No Comparative Toxicogenomics Database:84823, Ensembl:ENSG00000176619, GenAtlas:LMNB2, GeneCard:LMNB2, HGNC:HGNC:6638, HumanCyc Gene:HS01920, ModBase:Q03252, NCBI Gene:84823, OMIM:150341, OMIM:608709, RefSeq DNA:NG_008355, RefSeq DNA:NT_011255, RefSeq Protein:NP_116126, RefSeq RNA:NM_032737, UCSC Genome Browser:NM_032737, UniProtKB:Q03252 No chr19 2428163 2456966 2428165 2456968 +PA162391895 160492 HGNC:26683 ENSG00000152936 lamin tail domain containing 1 LMNTD1 intermediate filament tail domain containing 1 FLJ36004, IFLTD1, Pas1c1 Yes Yes Ensembl:ENSG00000152936, GeneCard:IFLTD1, HGNC:HGNC:26683, HumanCyc Gene:HS14448, ModBase:Q8N9Z9, NCBI Gene:160492, RefSeq DNA:NT_009714, RefSeq Protein:NP_001139199, RefSeq Protein:NP_001139200, RefSeq Protein:NP_001139201, RefSeq Protein:NP_689803, RefSeq RNA:NM_001145727, RefSeq RNA:NM_001145728, RefSeq RNA:NM_001145729, RefSeq RNA:NM_152590, RefSeq RNA:NR_027296, UniProtKB:B4DL27, UniProtKB:B4DY70, UniProtKB:C9JWT9, UniProtKB:Q8N9Z9 No chr12 25629016 25801496 25476082 25648604 +PA142672302 256329 HGNC:28561 ENSG00000185522 lamin tail domain containing 2 LMNTD2 chromosome 11 open reading frame 35 C11orf35, MGC35138 Yes No Ensembl:ENSG00000185522, GeneCard:C11orf35, HGNC:HGNC:28561, ModBase:Q8IXW0, NCBI Gene:256329, RefSeq DNA:NT_009237, RefSeq Protein:NP_775844, RefSeq RNA:NM_173573, UniProtKB:Q8IXW0 No chr11 554850 560779 554850 560780 +PA30407 4004 HGNC:6641 ENSG00000166407 LIM domain only 1 LMO1 LIM domain only 1 (rhombotin 1) RBTN1, RHOM1, TTG1 Yes No Comparative Toxicogenomics Database:4004, Ensembl:ENSG00000166407, GenAtlas:LMO1, GeneCard:LMO1, HGNC:HGNC:6641, HumanCyc Gene:HS09392, ModBase:P25800, NCBI Gene:4004, OMIM:186921, RefSeq DNA:NT_009237, RefSeq Protein:NP_002306, RefSeq RNA:NM_002315, UCSC Genome Browser:NM_002315, UniProtKB:P25800 No chr11 8245851 8290182 8224304 8268635 +PA30408 4005 HGNC:6642 ENSG00000135363 LIM domain only 2 LMO2 LIM domain only 2 (rhombotin-like 1), T-cell translocation gene 2, rhombotin-like 1 RBTN2, RBTNL1, RHOM2, TTG2 Yes No Comparative Toxicogenomics Database:4005, Ensembl:ENSG00000135363, GenAtlas:LMO2, GeneCard:LMO2, HGNC:HGNC:6642, HumanCyc Gene:HS05987, ModBase:P25791, NCBI Gene:4005, OMIM:180385, RefSeq DNA:NT_009237, RefSeq Protein:NP_001135787, RefSeq Protein:NP_001135788, RefSeq Protein:NP_005565, RefSeq RNA:NM_001142315, RefSeq RNA:NM_001142316, RefSeq RNA:NM_005574, UCSC Genome Browser:NM_005574, UniProtKB:P25791 No chr11 33880122 33913836 33858576 33892289 +PA30409 55885 HGNC:6643 ENSG00000048540 LIM domain only 3 LMO3 LIM domain only 3 (rhombotin-like 2), dopamine associated transcription factor-1 DAT1, RBTNL2, Rhom-3 Yes No Ensembl:ENSG00000048540, GenAtlas:LMO3, GeneCard:LMO3, HGNC:HGNC:6643, HumanCyc Gene:HS12113, ModBase:Q8TAP4, NCBI Gene:55885, OMIM:180386, RefSeq DNA:NT_009714, RefSeq Protein:NP_001001395, RefSeq Protein:NP_061110, RefSeq RNA:NM_001001395, RefSeq RNA:NM_018640, UniProtKB:Q8TAP4, UniProtKB:Q9NYC6 No chr12 16701306 16761148 16548372 16610233 +PA30410 8543 HGNC:6644 ENSG00000143013 LIM domain only 4 LMO4 Yes No Comparative Toxicogenomics Database:8543, Ensembl:ENSG00000143013, GenAtlas:LMO4, GeneCard:LMO4, HGNC:HGNC:6644, HumanCyc Gene:HS06979, ModBase:P61968, NCBI Gene:8543, OMIM:603129, RefSeq DNA:NT_032977, RefSeq Protein:NP_006760, RefSeq RNA:NM_006769, UCSC Genome Browser:NM_006769, UniProtKB:P61968 No chr1 87794151 87814606 87328468 87348923 +PA30412 4008 HGNC:6646 ENSG00000136153 LIM domain 7 LMO7 F-box only protein 20 FBX20, FBXO20, KIAA0858 Yes No Comparative Toxicogenomics Database:4008, Ensembl:ENSG00000136153, GenAtlas:LMO7, GeneCard:LMO7, HGNC:HGNC:6646, HumanCyc Gene:HS06121, ModBase:Q8WWI1, NCBI Gene:4008, OMIM:604362, RefSeq DNA:NT_024524, RefSeq Protein:NP_005349, RefSeq Protein:NP_056667, RefSeq RNA:NM_005358, RefSeq RNA:NM_015842, UCSC Genome Browser:NM_005358, UniProtKB:Q5TBK6, UniProtKB:Q8WWI1 No chr13 76194570 76434006 75620434 75859870 +PA166049122 729420 HGNC:44370 ENSG00000178734 LMO7 downstream neighbor LMO7DN C13orf45, chromosome 13 open reading frame 45 Yes No Ensembl:ENSG00000178734, HGNC:HGNC:44370, NCBI Gene:729420 No chr13 76445174 76457948 75869019 75883888 +PA30413 25802 HGNC:6647 ENSG00000163431 leiomodin 1 LMOD1 leiomodin 1 (smooth muscle) 1D, 64kD, D1, SM-LMOD, SMLMOD Yes No Comparative Toxicogenomics Database:25802, Ensembl:ENSG00000163431, GenAtlas:LMOD1, GeneCard:LMOD1, HGNC:HGNC:6647, HumanCyc Gene:HS08849, NCBI Gene:25802, OMIM:602715, RefSeq DNA:NT_004487, RefSeq Protein:NP_036266, RefSeq RNA:NM_012134, UCSC Genome Browser:NM_012134, UniProtKB:B1APV6, UniProtKB:P29536 No chr1 201865584 201915716 201896456 201946588 +PA30414 442721 HGNC:6648 ENSG00000170807 leiomodin 2 LMOD2 cardiac leiomodin, leiomodin 2 (cardiac) C-Lmod Yes No Ensembl:ENSG00000170807, GenAtlas:LMOD2, GeneCard:LMOD2, HGNC:HGNC:6648, ModBase:Q6P5Q4, NCBI Gene:442721, OMIM:608006, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_997046, RefSeq RNA:NM_207163, UniProtKB:Q6P5Q4 No chr7 123295861 123304147 123655807 123664093 +PA30415 56203 HGNC:6649 ENSG00000163380 leiomodin 3 LMOD3 leiomodin 3 (fetal) Yes No Comparative Toxicogenomics Database:56203, Ensembl:ENSG00000163380, GenAtlas:LMOD3, GeneCard:LMOD3, HGNC:HGNC:6649, ModBase:Q0VAK6, NCBI Gene:56203, RefSeq DNA:NT_022459, RefSeq Protein:NP_938012, RefSeq RNA:NM_198271, UniProtKB:Q0VAK6 No chr3 69156039 69171746 69108672 69122595 +PA134884391 22853 HGNC:17880 ENSG00000164715 lemur tyrosine kinase 2 LMTK2 protein phosphatase 1, regulatory subunit 100 AATYK2, BREK, KIAA1079, KPI-2, KPI2, LMR2, PPP1R100, cprk Yes No Comparative Toxicogenomics Database:22853, Ensembl:ENSG00000164715, GeneCard:LMTK2, HGNC:HGNC:17880, HumanCyc Gene:HS09123, ModBase:Q8IWU2, NCBI Gene:22853, OMIM:610989, RefSeq DNA:NG_013375, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_055731, RefSeq RNA:NM_014916, UniProtKB:Q8IWU2 No chr7 97736197 97838945 98106868 98209633 +PA134951789 114783 HGNC:19295 ENSG00000142235 lemur tyrosine kinase 3 LMTK3 protein phosphatase 1, regulatory subunit 101 AATYK3, KIAA1883, LMR3, PPP1R101, TYKLM3 Yes No Ensembl:ENSG00000142235, GeneCard:LMTK3, HGNC:HGNC:19295, ModBase:Q96Q04, NCBI Gene:114783, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073903, RefSeq RNA:NM_001080434 No chr19 48988528 49016446 48485271 48513926 +PA30416 4009 HGNC:6653 ENSG00000162761 LIM homeobox transcription factor 1 alpha LMX1A LIM homeobox transcription factor 1, alpha LMX1, LMX1.1 Yes No Ensembl:ENSG00000162761, GenAtlas:LMX1A, GeneCard:LMX1A, HGNC:HGNC:6653, HumanCyc Gene:HS08737, ModBase:Q8TE12, NCBI Gene:4009, OMIM:600298, RefSeq DNA:NT_004487, RefSeq Protein:NP_001028679, RefSeq Protein:NP_001167540, RefSeq Protein:NP_796372, RefSeq Protein:NP_796373, RefSeq RNA:NM_001033507, RefSeq RNA:NM_001174069, RefSeq RNA:NM_177398, RefSeq RNA:NM_177399, UCSC Genome Browser:NM_177398, UniProtKB:Q8TE12 No chr1 165171104 165325952 165201867 165356715 +PA30417 4010 HGNC:6654 ENSG00000136944 LIM homeobox transcription factor 1 beta LMX1B LIM homeobox transcription factor 1, beta NPS1 Yes No Comparative Toxicogenomics Database:4010, Ensembl:ENSG00000136944, GenAtlas:LMX1B, GeneCard:LMX1B, HGNC:HGNC:6654, HumanCyc Gene:HS06257, ModBase:O60663, NCBI Gene:4010, OMIM:137750, OMIM:161200, OMIM:602575, RefSeq DNA:NG_017039, RefSeq DNA:NT_008470, RefSeq Protein:NP_001167617, RefSeq Protein:NP_001167618, RefSeq Protein:NP_002307, RefSeq RNA:NM_001174146, RefSeq RNA:NM_001174147, RefSeq RNA:NM_002316, UCSC Genome Browser:NM_002316, UniProtKB:B7ZLH2, UniProtKB:O60663, UniProtKB:Q6ISE0 No chr9 129376722 129463311 126614443 126701032 +PA142671542 348801 HGNC:28014 ENSG00000206535 leukemia NUP98 fusion partner 1 LNP1 NP3 Yes No Ensembl:ENSG00000206535, HGNC:HGNC:28014, ModBase:A1A4G5, NCBI Gene:348801, RefSeq DNA:NT_005612, RefSeq Protein:NP_001078920, RefSeq RNA:NM_001085451, UniProtKB:A1A4G5 No chr3 100120037 100175170 100401193 100456326 +PA30418 4012 HGNC:6656 ENSG00000113441 leucyl and cystinyl aminopeptidase LNPEP cystinyl aminopeptidase, leucyl/cystinyl aminopeptidase, placental leucine aminopeptidase CAP, IRAP, P-LAP, PLAP Yes No Comparative Toxicogenomics Database:4012, Ensembl:ENSG00000113441, GenAtlas:LNPEP, GeneCard:LNPEP, HGNC:HGNC:6656, HumanCyc Gene:HS03682, ModBase:Q9UIQ6, NCBI Gene:4012, OMIM:151300, RefSeq DNA:NT_034772, RefSeq Protein:NP_005566, RefSeq Protein:NP_787116, RefSeq RNA:NM_005575, RefSeq RNA:NM_175920, UCSC Genome Browser:NM_005575, UniProtKB:Q9UIQ6 No chr5 96271346 96365115 96935642 97029411 +PA134938939 80856 HGNC:21610 ENSG00000144320 lunapark, ER junction formation factor LNPK limb and neural patterns, lunapark KIAA1715, LNP, LNP1, Ul, ulnaless Yes No Ensembl:ENSG00000144320, GeneCard:KIAA1715, HGNC:HGNC:21610, ModBase:Q9C0E8, NCBI Gene:80856, OMIM:610236, RefSeq DNA:NT_005403, RefSeq Protein:NP_085153, RefSeq RNA:NM_030650, UniProtKB:Q9C0E8 No chr2 176790410 176867018 175923862 176002901 +PA30419 84708 HGNC:6657 ENSG00000072201 ligand of numb-protein X 1 LNX1 ligand of numb-protein X 1, E3 ubiquitin protein ligase LNX, MPDZ, PDZRN2 Yes No Ensembl:ENSG00000072201, GenAtlas:LNX1, GeneCard:LNX1, HGNC:HGNC:6657, HumanCyc Gene:HS01060, ModBase:Q8TBB1, NCBI Gene:84708, OMIM:609732, RefSeq DNA:NT_022853, RefSeq Protein:NP_001119800, RefSeq Protein:NP_116011, RefSeq RNA:NM_001126328, RefSeq RNA:NM_032622, UCSC Genome Browser:NM_032622, UniProtKB:Q8TBB1 No chr4 54326437 54518653 53458264 53652524 +PA134899015 222484 HGNC:20421 ENSG00000139517 ligand of numb-protein X 2 LNX2 MGC46315, PDZRN1 Yes No Ensembl:ENSG00000139517, GeneCard:LNX2, HGNC:HGNC:20421, HumanCyc Gene:HS06626, ModBase:Q8N448, NCBI Gene:222484, OMIM:609733, RefSeq DNA:NT_024524, RefSeq Protein:NP_699202, RefSeq RNA:NM_153371, UniProtKB:Q8N448 No chr13 28120048 28194720 27545913 27621106 +PA142671539 503693 HGNC:26524 ENSG00000205791 loss of heterozygosity, 12, chromosomal region 2 (non-protein coding) LOH12CR2 LOH2CR12 Yes No Ensembl:ENSG00000205791, GeneCard:LOH12CR2, HGNC:HGNC:26524, NCBI Gene:503693, RefSeq DNA:NT_009714, RefSeq RNA:NR_024061 No chr12 12508342 12510001 12355408 12357067 +PA30424 8377 HGNC:6661 loss of heterozygosity, 1, chromosomal region 1 LOH1CR1 Yes No GenAtlas:LOH1CR1, GeneCard:LOH1CR1, HGNC:HGNC:6661, NCBI Gene:8377 No chr1 +PA162394145 9361 HGNC:9479 ENSG00000196365 lon peptidase 1, mitochondrial LONP1 Mitochondrial ATP-dependent protease Lon LonHS, PIM1, PRSS15, hLON Yes No Ensembl:ENSG00000196365, GeneCard:LONP1, HGNC:HGNC:9479, HumanCyc Gene:HS06887, ModBase:P36776, NCBI Gene:9361, OMIM:605490, RefSeq DNA:NT_011255, RefSeq Protein:NP_004784, RefSeq RNA:NM_004793, UniProtKB:P36776 No chr19 5691845 5720463 5691834 5720452 +PA162394186 83752 HGNC:20598 ENSG00000102910 lon peptidase 2, peroxisomal LONP2 LONP, LONPL, MGC4840 Yes No Ensembl:ENSG00000102910, GeneCard:LONP2, HGNC:HGNC:20598, HumanCyc Gene:HS02428, ModBase:Q86WA8, NCBI Gene:83752, RefSeq DNA:NT_010498, RefSeq Protein:NP_113678, RefSeq RNA:NM_031490, UniProtKB:Q86WA8 No chr16 48278211 48387888 48244167 48353979 +PA128394743 91694 HGNC:26302 ENSG00000154359 LON peptidase N-terminal domain and ring finger 1 LONRF1 FLJ23749, RNF191 Yes No Ensembl:ENSG00000154359, GeneCard:LONRF1, HGNC:HGNC:26302, HumanCyc Gene:HS07977, ModBase:Q17RB8, NCBI Gene:91694, RefSeq DNA:NT_167187, RefSeq Protein:NP_689484, RefSeq RNA:NM_152271, UCSC Genome Browser:NM_152271, UniProtKB:Q17RB8 No chr8 12579406 12612992 12721897 12755485 +PA142671540 164832 HGNC:24788 ENSG00000170500 LON peptidase N-terminal domain and ring finger 2 LONRF2 FLJ45273, RNF192 Yes No Comparative Toxicogenomics Database:164832, Ensembl:ENSG00000170500, GeneCard:LONRF2, HGNC:HGNC:24788, NCBI Gene:164832, RefSeq DNA:NT_022171, RefSeq Protein:NP_940863, RefSeq RNA:NM_198461, UniProtKB:Q1L5Z9 No chr2 100889753 100939195 100273291 100322733 +PA134900980 79836 HGNC:21152 ENSG00000175556 LON peptidase N-terminal domain and ring finger 3 LONRF3 FLJ22612, RNF127 Yes No Comparative Toxicogenomics Database:79836, Ensembl:ENSG00000175556, GeneCard:LONRF3, HGNC:HGNC:21152, HumanCyc Gene:HS10951, ModBase:Q496Y0, NCBI Gene:79836, RefSeq DNA:NG_012577, RefSeq DNA:NT_011786, RefSeq Protein:NP_001027026, RefSeq Protein:NP_079054, RefSeq RNA:NM_001031855, RefSeq RNA:NM_024778, UniProtKB:Q496Y0 No chrX 118108577 118152816 118974614 119022925 +PA166351942 4014 HGNC:6663 loricrin cornified envelope precursor protein LORICRIN LOR Yes No HGNC:HGNC:6663, NCBI Gene:4014 No 0 0 0 0 +PA30427 4015 HGNC:6664 ENSG00000113083 lysyl oxidase LOX protein-lysine 6-oxidase Yes No Comparative Toxicogenomics Database:4015, Ensembl:ENSG00000113083, GenAtlas:LOX, GeneCard:LOX, HGNC:HGNC:6664, HumanCyc Gene:HS03646, NCBI Gene:4015, OMIM:153455, OMIM:219100, RefSeq DNA:NG_008722, RefSeq DNA:NT_034772, RefSeq Protein:NP_001171573, RefSeq Protein:NP_002308, RefSeq RNA:NM_001178102, RefSeq RNA:NM_002317, UCSC Genome Browser:NM_002317, UniProtKB:B7ZAJ4, UniProtKB:D0PNI2, UniProtKB:P28300 No chr5 121398890 121414206 122063195 122078501 +PA134878065 125336 HGNC:26521 ENSG00000167210 lipoxygenase homology PLAT domains 1 LOXHD1 lipoxygenase homology domains 1 DFNB77, FLJ32670, LH2D1 Yes No Ensembl:ENSG00000167210, GeneCard:LOXHD1, HGNC:HGNC:26521, HumanCyc Gene:HS15536, NCBI Gene:125336, OMIM:613072, OMIM:613079, RefSeq DNA:NG_016646, RefSeq DNA:NT_010966, RefSeq Protein:NP_001138944, RefSeq Protein:NP_001138945, RefSeq Protein:NP_001166600, RefSeq Protein:NP_653213, RefSeq RNA:NM_001145472, RefSeq RNA:NM_001145473, RefSeq RNA:NM_001173129, RefSeq RNA:NM_144612, UniProtKB:Q8IVV2 No chr18 44056935 44236996 46476961 46657115 +PA30428 4016 HGNC:6665 ENSG00000129038 lysyl oxidase like 1 LOXL1 lysyl oxidase-like 1 LOL, LOXL Yes No Comparative Toxicogenomics Database:4016, Ensembl:ENSG00000129038, GenAtlas:LOXL1, GeneCard:LOXL1, HGNC:HGNC:6665, HumanCyc Gene:HS05239, ModBase:Q08397, NCBI Gene:4016, OMIM:153456, OMIM:177650, RefSeq DNA:NG_011466, RefSeq DNA:NT_010194, RefSeq Protein:NP_005567, RefSeq RNA:NM_005576, UCSC Genome Browser:NM_005576, UniProtKB:Q08397 No chr15 74218789 74244478 73926451 73952141 +PA30429 4017 HGNC:6666 ENSG00000134013 lysyl oxidase like 2 LOXL2 lysyl oxidase-like 2 LOR, WS9-14 Yes No Comparative Toxicogenomics Database:4017, Ensembl:ENSG00000134013, GenAtlas:LOXL2, GeneCard:LOXL2, HGNC:HGNC:6666, HumanCyc Gene:HS05803, ModBase:Q9Y4K0, NCBI Gene:4017, OMIM:606663, RefSeq DNA:NT_167187, RefSeq Protein:NP_002309, RefSeq RNA:NM_002318, UCSC Genome Browser:NM_002318, UniProtKB:Q9Y4K0 No chr8 23154410 23261722 23296897 23404209 +PA30430 84695 HGNC:13869 ENSG00000115318 lysyl oxidase like 3 LOXL3 lysyl oxidase-like 3 Yes No Ensembl:ENSG00000115318, GenAtlas:LOXL3, GeneCard:LOXL3, HGNC:HGNC:13869, HumanCyc Gene:HS03871, ModBase:P58215, NCBI Gene:84695, OMIM:607163, RefSeq DNA:NT_022184, RefSeq Protein:NP_115992, RefSeq RNA:NM_032603, UCSC Genome Browser:NM_032603, UniProtKB:P58215 No chr2 74759946 74781088 74532258 74555709 +PA30431 84171 HGNC:17171 ENSG00000138131 lysyl oxidase like 4 LOXL4 lysyl oxidase-like 4 FLJ21889, LOXC Yes No Comparative Toxicogenomics Database:84171, Ensembl:ENSG00000138131, GenAtlas:LOXL4, GeneCard:LOXL4, HGNC:HGNC:17171, HumanCyc Gene:HS06461, ModBase:Q96JB6, NCBI Gene:84171, OMIM:607318, RefSeq DNA:NT_030059, RefSeq Protein:NP_115587, RefSeq RNA:NM_032211, UCSC Genome Browser:NM_032211, UniProtKB:Q96JB6 No chr10 100007443 100028007 98247686 98268250 +PA30432 4018 HGNC:6667 ENSG00000198670 lipoprotein(a) LPA """apolipoprotein(a)"", ""lipoprotein, Lp(a)""" LP, Lp(a) Yes Yes Comparative Toxicogenomics Database:4018, Ensembl:ENSG00000198670, GenAtlas:LPA, GeneCard:LPA, HGNC:HGNC:6667, ModBase:P08519, NCBI Gene:4018, OMIM:152200, RefSeq DNA:NG_016147, RefSeq DNA:NT_025741, RefSeq Protein:NP_005568, RefSeq RNA:NM_005577, UCSC Genome Browser:NM_005577, UniProtKB:P08519 No chr6 160952506 161097478 160531483 160666375 +PA30433 4019 HGNC:6668 lipoprotein, Lp(a)-like 1 LPAL1 Yes No GenAtlas:LPAL1, GeneCard:LPAL1, HGNC:HGNC:6668, NCBI Gene:4019 No chr6 +PA30434 80350 HGNC:21210 ENSG00000213071 lipoprotein, Lp(a)-like 2, pseudogene LPAL2 APOARGC Yes No Ensembl:ENSG00000213071, GenAtlas:LPAL2, GeneCard:LPAL2, HGNC:HGNC:21210, ModBase:Q16609, NCBI Gene:80350, OMIM:611682, RefSeq DNA:NT_025741, RefSeq Protein:NP_077818, RefSeq Protein:NP_663779, RefSeq RNA:NM_024492, RefSeq RNA:NM_145727, RefSeq RNA:NR_028092, RefSeq RNA:NR_028093, UCSC Genome Browser:NM_024492 No chr6 160887587 160932156 160466555 160511124 +PA162394187 1902 HGNC:3166 ENSG00000198121 lysophosphatidic acid receptor 1 LPAR1 EDG2, GPR26, Gpcr26, LPA1, Mrec1.3, edg-2, rec.1.3, vzg-1 Yes No Ensembl:ENSG00000198121, GeneCard:LPAR1, HGNC:HGNC:3166, IUPHAR Receptor:272, ModBase:Q92633, NCBI Gene:1902, OMIM:602282, RefSeq DNA:NT_008470, RefSeq Protein:NP_001392, RefSeq Protein:NP_476500, RefSeq RNA:NM_001401, RefSeq RNA:NM_057159, UniProtKB:Q5VZX0, UniProtKB:Q92633 No chr9 113635542 113801523 110873252 111039259 +PA162394202 9170 HGNC:3168 ENSG00000064547 lysophosphatidic acid receptor 2 LPAR2 EDG-4, EDG4, LPA2 Yes No Ensembl:ENSG00000064547, GeneCard:LPAR2, HGNC:HGNC:3168, HumanCyc Gene:HS00807, IUPHAR Receptor:273, ModBase:Q9HBW0, NCBI Gene:9170, OMIM:605110, RefSeq DNA:NT_011295, RefSeq Protein:NP_004711, RefSeq RNA:NM_004720, UniProtKB:Q9HBW0 No chr19 19734464 19739039 19623655 19628930 +PA162394213 23566 HGNC:14298 ENSG00000171517 lysophosphatidic acid receptor 3 LPAR3 EDG7, Edg-7, HOFNH30, LP-A3, LPA3, RP4-678I3 Yes No Ensembl:ENSG00000171517, GeneCard:LPAR3, HGNC:HGNC:14298, HumanCyc Gene:HS10330, IUPHAR Receptor:274, ModBase:Q9UBY5, NCBI Gene:23566, OMIM:605106, RefSeq DNA:NT_032977, RefSeq Protein:NP_036284, RefSeq RNA:NM_012152, UniProtKB:Q9UBY5 No chr1 85279086 85358896 84813403 84893213 +PA162394222 2846 HGNC:4478 ENSG00000147145 lysophosphatidic acid receptor 4 LPAR4 GPR23, LPA4, P2RY9, P2Y5-LIKE, P2Y9 Yes No Ensembl:ENSG00000147145, GeneCard:LPAR4, HGNC:HGNC:4478, HumanCyc Gene:HS07401, IUPHAR Receptor:94, ModBase:Q99677, NCBI Gene:2846, OMIM:300086, RefSeq DNA:NG_013242, RefSeq DNA:NT_011651, RefSeq Protein:NP_005287, RefSeq RNA:NM_005296, UniProtKB:Q99677 No chrX 78003206 78014211 78747658 78758714 +PA28935 57121 HGNC:13307 ENSG00000184574 lysophosphatidic acid receptor 5 LPAR5 GPR92, GPR93, KPG_010, LPA5 Yes No Ensembl:ENSG00000184574, GenAtlas:GPR92, GeneCard:GPR92, GeneCard:LPAR5, HGNC:HGNC:13307, IUPHAR Receptor:124, NCBI Gene:57121, OMIM:606926, RefSeq DNA:NT_009759, RefSeq Protein:NP_001136433, RefSeq Protein:NP_065133, RefSeq RNA:NM_001142961, RefSeq RNA:NM_020400, UCSC Genome Browser:NM_020400, UniProtKB:Q5KU18, UniProtKB:Q9H1C0 No chr12 6728001 6745297 6618835 6636131 +PA165505129 10161 HGNC:15520 ENSG00000139679 lysophosphatidic acid receptor 6 LPAR6 P2RY5, P2Y5 Yes No Comparative Toxicogenomics Database:10161, Ensembl:ENSG00000139679, GeneCard:LPAR6, HGNC:HGNC:15520, HumanCyc Gene:HS06648, IUPHAR Receptor:163, ModBase:Q7Z3S6, NCBI Gene:10161, OMIM:278150, OMIM:609239, OMIM:611452, RefSeq DNA:NG_009009, RefSeq DNA:NG_012874, RefSeq DNA:NT_024524, RefSeq Protein:NP_001155969, RefSeq Protein:NP_001155970, RefSeq Protein:NP_005758, RefSeq RNA:NM_001162497, RefSeq RNA:NM_001162498, RefSeq RNA:NM_005767, UniProtKB:B3KVQ5, UniProtKB:P43657 No chr13 48985181 49018840 48411045 48444704 +PA162394232 79888 HGNC:25718 ENSG00000153395 lysophosphatidylcholine acyltransferase 1 LPCAT1 lysophospholipid acyltransferase 8 AGPAT10, AGPAT9, AYTL2, FLJ12443, LPLAT8 Yes No Ensembl:ENSG00000153395, GeneCard:LPCAT1, HGNC:HGNC:25718, HumanCyc Gene:HS07906, ModBase:Q8NF37, NCBI Gene:79888, OMIM:610472, RefSeq DNA:NT_006576, RefSeq Protein:NP_079106, RefSeq RNA:NM_024830, UniProtKB:Q8NF37 No chr5 1461542 1525644 1461427 1523961 +PA162394265 54947 HGNC:26032 ENSG00000087253 lysophosphatidylcholine acyltransferase 2 LPCAT2 lysophospholipid acyltransferase 9 AGPAT11, AYTL1, FLJ20481, LPLAT9, LysoPAFAT Yes No Ensembl:ENSG00000087253, GeneCard:LPCAT2, HGNC:HGNC:26032, HumanCyc Gene:HS01567, ModBase:Q7L5N7, NCBI Gene:54947, OMIM:612040, RefSeq DNA:NT_010498, RefSeq Protein:NP_060309, RefSeq RNA:NM_017839, UniProtKB:Q7L5N7 No chr16 55542913 55620582 55509001 55586670 +PA162394266 10162 HGNC:30244 ENSG00000111684 lysophosphatidylcholine acyltransferase 3 LPCAT3 Lysophospholipid acyltransferase 5, lysophospholipid acyltransferase 12 C3F, LPLAT12, MBOAT5, OACT5, nessy Yes No Ensembl:ENSG00000111684, GeneCard:LPCAT3, HGNC:HGNC:30244, HumanCyc Gene:HS12746, NCBI Gene:10162, OMIM:611950, RefSeq DNA:NT_009759, RefSeq Protein:NP_005759, RefSeq RNA:NM_005768, UniProtKB:Q6P1A2 No chr12 7085347 7125842 6976185 7018538 +PA162394297 254531 HGNC:30059 ENSG00000176454 lysophosphatidylcholine acyltransferase 4 LPCAT4 lysophosphatidylethanolamine acyltransferase 2, lysophospholipid acyltransferase 10 AGPAT7, AYTL3, FLJ10257, LPAAT-eta, LPEAT2, LPLAT10 Yes No Ensembl:ENSG00000176454, GeneCard:LPCAT4, HGNC:HGNC:30059, HumanCyc Gene:HS16664, ModBase:Q643R3, NCBI Gene:254531, OMIM:612039, RefSeq DNA:NT_010194, RefSeq Protein:NP_705841, RefSeq RNA:NM_153613, UniProtKB:Q643R3 No chr15 34651089 34659397 34358888 34367196 +PA134869091 9926 HGNC:28985 ENSG00000123684 lysophosphatidylglycerol acyltransferase 1 LPGAT1 lysophospholipid acyltransferase 7 FAM34A, FAM34A1, KIAA0205, LPLAT7, NET8 Yes No Comparative Toxicogenomics Database:9926, Ensembl:ENSG00000123684, GeneCard:LPGAT1, HGNC:HGNC:28985, HumanCyc Gene:HS04683, ModBase:Q92604, NCBI Gene:9926, OMIM:610473, RefSeq DNA:NT_167186, RefSeq Protein:NP_055688, RefSeq RNA:NM_014873, UniProtKB:Q53YL2, UniProtKB:Q92604 No chr1 211916799 212048531 211743457 211830772 +PA134892508 100129398 HGNC:31402 lysophosphatidylglycerol acyltransferase 1 pseudogene 1 LPGAT1P1 Yes No GeneCard:LPGAT1P1, HGNC:HGNC:31402, NCBI Gene:100129398 No chr8 30840975 30841837 30983459 30984321 +PA30436 23175 HGNC:13345 ENSG00000134324 lipin 1 LPIN1 phosphatidate phosphatase LPIN1 KIAA0188 Yes Yes Comparative Toxicogenomics Database:23175, Ensembl:ENSG00000134324, GenAtlas:LPIN1, GeneCard:LPIN1, HGNC:HGNC:13345, HumanCyc Gene:HS05857, ModBase:Q14693, NCBI Gene:23175, OMIM:268200, OMIM:605518, RefSeq DNA:NG_012843, RefSeq DNA:NT_005334, RefSeq Protein:NP_663731, RefSeq RNA:NM_145693, UCSC Genome Browser:NM_145693, UniProtKB:Q14693 No chr2 11817705 11967535 11677544 11827409 +PA30437 9663 HGNC:14450 ENSG00000101577 lipin 2 LPIN2 Phosphatidate phosphatase LPIN2 KIAA0249 Yes No Comparative Toxicogenomics Database:9663, Ensembl:ENSG00000101577, GenAtlas:LPIN2, GeneCard:LPIN2, HGNC:HGNC:14450, HumanCyc Gene:HS02292, ModBase:Q92539, NCBI Gene:9663, OMIM:605519, OMIM:609628, RefSeq DNA:NG_007507, RefSeq DNA:NT_010859, RefSeq Protein:NP_055461, RefSeq RNA:NM_014646, UCSC Genome Browser:NM_014646, UniProtKB:Q92539 No chr18 2916992 3013313 2916994 3013315 +PA30438 64900 HGNC:14451 ENSG00000132793 lipin 3 LPIN3 Phosphatidate phosphatase LPIN3 LIPN3L, SMP2 Yes No Comparative Toxicogenomics Database:64900, Ensembl:ENSG00000132793, GenAtlas:LPIN3, GeneCard:LPIN3, HGNC:HGNC:14451, HumanCyc Gene:HS05691, ModBase:Q9BQK8, NCBI Gene:64900, OMIM:605520, RefSeq DNA:NT_011362, RefSeq Protein:NP_075047, RefSeq RNA:NM_022896, UniProtKB:Q9BQK8 No chr20 39969495 39989222 41340779 41360585 +PA232 4023 HGNC:6677 ENSG00000175445 lipoprotein lipase LPL LIPD Yes Yes Comparative Toxicogenomics Database:4023, Ensembl:ENSG00000175445, GenAtlas:LPL, GeneCard:LPL, HGNC:HGNC:6677, HumanCyc Gene:HS10931, ModBase:P06858, NCBI Gene:4023, OMIM:144250, OMIM:238600, OMIM:609708, RefSeq DNA:NG_008855, RefSeq DNA:NT_167187, RefSeq Protein:NP_000228, RefSeq RNA:NM_000237, UCSC Genome Browser:NM_000237, UniProtKB:P06858 No chr8 19796582 19824770 19939071 19967259 +PA30439 4025 HGNC:6678 ENSG00000167419 lactoperoxidase LPO SPO Yes No Comparative Toxicogenomics Database:4025, Ensembl:ENSG00000167419, GenAtlas:LPO, GeneCard:LPO, HGNC:HGNC:6678, HumanCyc Gene:HS09558, ModBase:P22079, NCBI Gene:4025, OMIM:150205, RefSeq DNA:NT_010783, RefSeq Protein:NP_001153574, RefSeq Protein:NP_006142, RefSeq RNA:NM_001160102, RefSeq RNA:NM_006151, RefSeq RNA:NR_027647, UniProtKB:A5JUY4, UniProtKB:P22079 No chr17 56315787 56345879 58238426 58268518 +PA30440 4026 HGNC:6679 ENSG00000145012 LIM domain containing preferred translocation partner in lipoma LPP lipoma preferred partner gene Yes Yes Comparative Toxicogenomics Database:4026, Ensembl:ENSG00000145012, GenAtlas:LPP, GeneCard:LPP, HGNC:HGNC:6679, HumanCyc Gene:HS07222, ModBase:Q93052, NCBI Gene:4026, OMIM:600700, OMIM:601626, RefSeq DNA:NG_016932, RefSeq DNA:NT_005612, RefSeq Protein:NP_001161143, RefSeq Protein:NP_001161144, RefSeq Protein:NP_005569, RefSeq RNA:NM_001167671, RefSeq RNA:NM_001167672, RefSeq RNA:NM_005578, UCSC Genome Browser:NM_005578, UniProtKB:B7ZLW0, UniProtKB:Q93052 No chr3 187871097 188608460 188153050 188890671 +PA30441 9404 HGNC:14061 ENSG00000110031 leupaxin LPXN LDPL Yes No Comparative Toxicogenomics Database:9404, Ensembl:ENSG00000110031, GenAtlas:LPXN, GeneCard:LPXN, HGNC:HGNC:14061, HumanCyc Gene:HS03278, ModBase:O60711, NCBI Gene:9404, OMIM:605390, RefSeq DNA:NT_167190, RefSeq Protein:NP_001137467, RefSeq Protein:NP_004802, RefSeq RNA:NM_001143995, RefSeq RNA:NM_004811, UCSC Genome Browser:NM_004811, UniProtKB:B4DV71, UniProtKB:O60711 No chr11 58294344 58345688 58526871 58578239 +PA30443 9227 HGNC:6685 ENSG00000121207 lecithin retinol acyltransferase LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase), phosphatidylcholine--retinol O-acyltransferase LCA14 Yes No Comparative Toxicogenomics Database:9227, Ensembl:ENSG00000121207, GenAtlas:LRAT, GeneCard:LRAT, HGNC:HGNC:6685, HumanCyc Gene:HS04474, ModBase:O95237, NCBI Gene:9227, OMIM:604863, OMIM:613341, RefSeq DNA:NG_009110, RefSeq DNA:NT_016354, RefSeq Protein:NP_004735, RefSeq RNA:NM_004744, UCSC Genome Browser:NM_004744, UniProtKB:O95237 No chr4 155665163 155674270 154740841 154753119 +PA142671854 151354 HGNC:20743 ENSG00000162981 LRAT domain containing 1 LRATD1 """family with sequence similarity 84 member A"", ""family with sequence similarity 84, member A"", ""neurological/sensory 1""" FAM84A, FLJ35392, NSE1 Yes No Ensembl:ENSG00000162981, GeneCard:FAM84A, HGNC:HGNC:20743, HumanCyc Gene:HS14998, NCBI Gene:151354, OMIM:611234, RefSeq DNA:NT_005334, RefSeq Protein:NP_660158, RefSeq RNA:NM_145175, UniProtKB:Q96KN4 No chr2 14772810 14780170 14632686 14640046 +PA142671855 157638 HGNC:24166 ENSG00000168672 LRAT domain containing 2 LRATD2 """breast cancer membrane-associated protein 101"", ""family with sequence similarity 84 member B"", ""family with sequence similarity 84, member B"", ""neurological/sensory 2""" BCMP101, FAM84B, NSE2 Yes No Ensembl:ENSG00000168672, GeneCard:FAM84B, HGNC:HGNC:24166, ModBase:Q96KN1, NCBI Gene:157638, OMIM:609483, RefSeq DNA:NT_008046, RefSeq Protein:NP_777571, RefSeq RNA:NM_174911, UniProtKB:Q96KN1 No chr8 127564683 127570717 126552438 126558499 +PA30444 987 HGNC:1742 ENSG00000198589 LPS responsive beige-like anchor protein LRBA LPS-responsive vesicle trafficking, beach and anchor containing BGL, CDC4L, LAB300, LBA, uc.147 Yes No Comparative Toxicogenomics Database:987, Ensembl:ENSG00000198589, GenAtlas:LRBA, GeneCard:LRBA, HGNC:HGNC:1742, ModBase:P50851, NCBI Gene:987, OMIM:606453, RefSeq DNA:NT_016354, RefSeq Protein:NP_001186211, RefSeq Protein:NP_006717, RefSeq RNA:NM_001199282, RefSeq RNA:NM_006726, UCSC Genome Browser:NM_006726, UniProtKB:P50851 No chr4 151185811 151936879 150264515 151015725 +PA134898200 23143 HGNC:20309 ENSG00000136141 leucine rich repeats and calponin homology domain containing 1 LRCH1 leucine-rich repeats and calponin homology (CH) domain containing 1 CHDC1, KIAA1016 Yes No Ensembl:ENSG00000136141, GeneCard:LRCH1, HGNC:HGNC:20309, HumanCyc Gene:HS06115, ModBase:Q9Y2L9, NCBI Gene:23143, OMIM:610368, RefSeq DNA:NG_021335, RefSeq DNA:NT_024524, RefSeq Protein:NP_001157683, RefSeq Protein:NP_001157685, RefSeq Protein:NP_055931, RefSeq RNA:NM_001164211, RefSeq RNA:NM_001164213, RefSeq RNA:NM_015116, UniProtKB:B7ZLL5, UniProtKB:Q17R43, UniProtKB:Q9Y2L9 No chr13 47127296 47327176 46553138 46753041 +PA134890613 57631 HGNC:29292 ENSG00000130224 leucine rich repeats and calponin homology domain containing 2 LRCH2 leucine-rich repeats and calponin homology (CH) domain containing 2 KIAA1495 Yes No Ensembl:ENSG00000130224, GeneCard:LRCH2, HGNC:HGNC:29292, HumanCyc Gene:HS13323, ModBase:Q5VUJ6, NCBI Gene:57631, RefSeq DNA:NG_021299, RefSeq DNA:NT_028405, RefSeq Protein:NP_065922, RefSeq RNA:NM_020871, UniProtKB:Q5VUJ6 No chrX 114345179 114468635 115110611 115234082 +PA134923024 84859 HGNC:28637 ENSG00000186001 leucine rich repeats and calponin homology domain containing 3 LRCH3 leucine-rich repeats and calponin homology (CH) domain containing 3 MGC4126 Yes No Ensembl:ENSG00000186001, GeneCard:LRCH3, HGNC:HGNC:28637, NCBI Gene:84859, RefSeq DNA:NT_029928, RefSeq Protein:NP_116162, RefSeq RNA:NM_032773, UniProtKB:Q96II8 No chr3 197518112 197615307 197790855 197889346 +PA30467 4034 HGNC:6691 ENSG00000077454 leucine rich repeats and calponin homology domain containing 4 LRCH4 leucine-rich repeats and calponin homology (CH) domain containing 4 LRN, LRRN1 Yes No Comparative Toxicogenomics Database:4034, Ensembl:ENSG00000077454, GenAtlas:LRCH4, GeneCard:LRCH4, HGNC:HGNC:6691, HumanCyc Gene:HS01246, ModBase:O75427, NCBI Gene:4034, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_002310, RefSeq RNA:NM_002319, UCSC Genome Browser:NM_002319, UniProtKB:O75427 No chr7 100171634 100183806 100574011 100586188 +PA166049110 100507055 HGNC:44160 ENSG00000204583 leucine rich colipase like 1 LRCOL1 leucine rich colipase-like 1 Yes No Ensembl:ENSG00000204583, HGNC:HGNC:44160, NCBI Gene:100507055 No chr12 133179672 133187229 132603150 132610451 +PA134871732 57622 HGNC:29290 ENSG00000128011 leucine rich repeat and fibronectin type III domain containing 1 LRFN1 KIAA1484, SALM2 Yes No Ensembl:ENSG00000128011, GeneCard:LRFN1, HGNC:HGNC:29290, NCBI Gene:57622, OMIM:612807, RefSeq DNA:NT_011109, RefSeq Protein:NP_065913, RefSeq RNA:NM_020862, UniProtKB:Q9P244 No chr19 39797457 39806740 39306817 39320867 +PA134913285 57497 HGNC:21226 ENSG00000156564 leucine rich repeat and fibronectin type III domain containing 2 LRFN2 fibronectin type III, immunoglobulin and leucine rich repeat domains 2 FIGLER2, KIAA1246, SALM1 Yes No Ensembl:ENSG00000156564, GeneCard:LRFN2, HGNC:HGNC:21226, ModBase:Q9ULH4, NCBI Gene:57497, OMIM:612808, RefSeq DNA:NT_007592, RefSeq Protein:NP_065788, RefSeq RNA:NM_020737, UniProtKB:Q9ULH4 No chr6 40359373 40555126 40391589 40587464 +PA134880779 79414 HGNC:28370 ENSG00000126243 leucine rich repeat and fibronectin type III domain containing 3 LRFN3 fibronectin type III, immunoglobulin and leucine rich repeat domains 1 FIGLER1, MGC2656, SALM4 Yes No Ensembl:ENSG00000126243, GeneCard:LRFN3, HGNC:HGNC:28370, HumanCyc Gene:HS13200, ModBase:Q9BTN0, NCBI Gene:79414, OMIM:612809, RefSeq DNA:NT_011109, RefSeq Protein:NP_078785, RefSeq RNA:NM_024509, UniProtKB:Q9BTN0 No chr19 36428022 36436097 35937120 35945195 +PA134922153 78999 HGNC:28456 ENSG00000173621 leucine rich repeat and fibronectin type III domain containing 4 LRFN4 fibronectin type III, immunoglobulin and leucine rich repeat domains 6 FIGLER6, MGC3103, SALM3. Yes No Comparative Toxicogenomics Database:78999, Ensembl:ENSG00000173621, GeneCard:LRFN4, HGNC:HGNC:28456, HumanCyc Gene:HS16235, ModBase:Q6PJG9, NCBI Gene:78999, OMIM:612810, RefSeq DNA:NT_167190, RefSeq Protein:NP_076941, RefSeq RNA:NM_024036, UniProtKB:Q6PJG9 No chr11 66624558 66627946 66857087 66860475 +PA134888453 145581 HGNC:20360 ENSG00000165379 leucine rich repeat and fibronectin type III domain containing 5 LRFN5 fibronectin type III, immunoglobulin and leucine rich repeat domains 8 C14orf146, FIGLER8, SALM5 Yes No Ensembl:ENSG00000165379, GeneCard:LRFN5, HGNC:HGNC:20360, HumanCyc Gene:HS09222, ModBase:Q96NI6, NCBI Gene:145581, OMIM:612811, RefSeq DNA:NT_026437, RefSeq Protein:NP_689660, RefSeq RNA:NM_152447, UniProtKB:Q96NI6 No chr14 42076764 42373752 41604684 41904549 +PA134919634 116844 HGNC:29480 ENSG00000171236 leucine rich alpha-2-glycoprotein 1 LRG1 leucine rich alpha 2 glycoprotein, leucine-rich alpha-2-glycoprotein 1 LRG Yes No Comparative Toxicogenomics Database:116844, Ensembl:ENSG00000171236, GeneCard:LRG1, HGNC:HGNC:29480, HumanCyc Gene:HS10273, ModBase:P02750, NCBI Gene:116844, OMIM:611289, RefSeq DNA:NT_011255, RefSeq Protein:NP_443204, RefSeq RNA:NM_052972, UniProtKB:P02750, UniProtKB:Q68CK4 No chr19 4537227 4540036 4537215 4540024 +PA162394330 136332 HGNC:21964 ENSG00000155530 leucine rich repeats and guanylate kinase domain containing LRGUK leucine-rich repeats and guanylate kinase domain containing CFAP246, FLJ32786 Yes No Ensembl:ENSG00000155530, GeneCard:LRGUK, HGNC:HGNC:21964, HumanCyc Gene:HS14569, ModBase:Q96M69, NCBI Gene:136332, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_653249, RefSeq RNA:NM_144648, UniProtKB:Q96M69 No chr7 133812105 133948933 134127352 134264181 +PA142672487 55791 HGNC:30299 ENSG00000121931 ligand dependent nuclear receptor interacting factor 1 LRIF1 receptor interacting factor 1 C1orf103, FLJ11269, RIF1 Yes No Ensembl:ENSG00000121931, GeneCard:C1orf103, HGNC:HGNC:30299, HumanCyc Gene:HS13034, ModBase:Q5T3J3, NCBI Gene:55791, RefSeq DNA:NT_032977, RefSeq Protein:NP_001006946, RefSeq Protein:NP_060842, RefSeq RNA:NM_001006945, RefSeq RNA:NM_018372, UniProtKB:Q5T3J3 No chr1 111489812 111506825 110877252 110964203 +PA38450 26018 HGNC:17360 ENSG00000144749 leucine rich repeats and immunoglobulin like domains 1 LRIG1 leucine-rich repeat protein LRIG1, leucine-rich repeats and immunoglobulin-like domains 1, ortholog of mouse integral membrane glycoprotein LIG-1 DKFZP586O1624, LIG-1, LIG1 Yes No Comparative Toxicogenomics Database:26018, Ensembl:ENSG00000144749, GenAtlas:LRIG1, GeneCard:LRIG1, HGNC:HGNC:17360, HumanCyc Gene:HS14048, ModBase:Q96JA1, NCBI Gene:26018, OMIM:608868, RefSeq DNA:NT_022459, RefSeq Protein:NP_056356, RefSeq RNA:NM_015541, UCSC Genome Browser:NM_015541, UniProtKB:Q96JA1 No chr3 66429221 66551446 66378797 66501124 +PA134905053 9860 HGNC:20889 ENSG00000198799 leucine rich repeats and immunoglobulin like domains 2 LRIG2 leucine-rich repeats and immunoglobulin-like domains 2 KIAA0806 Yes No Ensembl:ENSG00000198799, GeneCard:LRIG2, HGNC:HGNC:20889, ModBase:O94898, NCBI Gene:9860, OMIM:608869, RefSeq DNA:NT_032977, RefSeq Protein:NP_055628, RefSeq RNA:NM_014813, UniProtKB:O94898 No chr1 113615792 113667824 113073170 113132260 +PA134864136 121227 HGNC:30991 ENSG00000139263 leucine rich repeats and immunoglobulin like domains 3 LRIG3 leucine-rich repeats and immunoglobulin-like domains 3 FLJ90440, KIAA3016 Yes Yes Comparative Toxicogenomics Database:121227, Ensembl:ENSG00000139263, GeneCard:LRIG3, HGNC:HGNC:30991, HumanCyc Gene:HS13769, ModBase:Q6UXM1, NCBI Gene:121227, OMIM:608870, RefSeq DNA:NT_029419, RefSeq Protein:NP_001129523, RefSeq Protein:NP_700356, RefSeq RNA:NM_001136051, RefSeq RNA:NM_153377, UniProtKB:Q6UXM1 No chr12 59265937 59314319 58869351 58920540 +PA162394331 26103 HGNC:23404 ENSG00000148602 leucine rich repeat, Ig-like and transmembrane domains 1 LRIT1 """fibronectin type III, immunoglobulin and leucine rich repeat domains 9"", ""leucine-rich repeat, immunoglobulin-like and transmembrane domains 1""" DKFZP434K091, FIGLER9, LRRC21, PAL Yes No Ensembl:ENSG00000148602, GeneCard:LRIT1, HGNC:HGNC:23404, HumanCyc Gene:HS07541, ModBase:Q9P2V4, NCBI Gene:26103, RefSeq DNA:NT_030059, RefSeq Protein:NP_056428, RefSeq RNA:NM_015613, UniProtKB:Q9P2V4 No chr10 85991276 86001217 84231520 84241461 +PA162394344 340745 HGNC:23443 ENSG00000204033 leucine rich repeat, Ig-like and transmembrane domains 2 LRIT2 leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 AC022389.4, LRRC22 Yes No Ensembl:ENSG00000204033, GeneCard:LRIT2, HGNC:HGNC:23443, ModBase:A6NDA9, NCBI Gene:340745, RefSeq DNA:NT_030059, RefSeq Protein:NP_001017924, RefSeq RNA:NM_001017924, UniProtKB:A6NDA9 No chr10 85980241 85985339 84220485 84225589 +PA162394355 345193 HGNC:24783 ENSG00000183423 leucine rich repeat, Ig-like and transmembrane domains 3 LRIT3 """fibronectin type III, immunoglobulin and leucine rich repeat domains 4"", ""leucine-rich repeat, immunoglobulin-like and transmembrane domains 3""" CSNB1F, FIGLER4, FLJ44691 Yes No Ensembl:ENSG00000183423, GeneCard:LRIT3, HGNC:HGNC:24783, NCBI Gene:345193, RefSeq DNA:NT_016354, RefSeq Protein:NP_940908, RefSeq RNA:NM_198506, UniProtKB:Q3SXY7 No chr4 110769340 110793471 109848182 109872315 +PA134899373 83938 HGNC:23405 ENSG00000148655 leucine rich melanocyte differentiation associated LRMDA """chromosome 10 open reading frame 11"", ""oculocutaneous albinism 7, autosomal recessive""" C10orf11, CDA017, OCA7 Yes Yes Ensembl:ENSG00000148655, GeneCard:C10orf11, HGNC:HGNC:23405, HumanCyc Gene:HS14250, ModBase:Q9H2I8, NCBI Gene:83938, RefSeq DNA:NT_030059, RefSeq Protein:NP_114413, RefSeq RNA:NM_032024, UniProtKB:Q9H2I8 No chr10 77191217 78317133 75431646 76559220 +PA233 4035 HGNC:6692 ENSG00000123384 LDL receptor related protein 1 LRP1 low density lipoprotein receptor-related protein 1, transforming growth factor-β receptor type V, transforming growth factor-β receptor type V, transforming growth factor-ß receptor type V A2MR, APOER, APR, CD91, IGFBP-3R, IGFBP3R1, LRP, LRP1A Yes Yes Comparative Toxicogenomics Database:4035, Ensembl:ENSG00000123384, GenAtlas:LRP1, GeneCard:LRP1, HGNC:HGNC:6692, ModBase:Q07954, NCBI Gene:4035, OMIM:107770, RefSeq DNA:NG_016444, RefSeq DNA:NT_029419, RefSeq Protein:NP_002323, RefSeq RNA:NM_002332, UCSC Genome Browser:NM_002332, UniProtKB:Q07954 No chr12 57522282 57607142 57128401 57213377 +PA38383 26020 HGNC:14553 ENSG00000197324 LDL receptor related protein 10 LRP10 low density lipoprotein receptor-related protein 10 DKFZP564C1940, LRP9, MGC8675, MST087, MSTP087 Yes No Comparative Toxicogenomics Database:26020, Ensembl:ENSG00000197324, GenAtlas:LRP10, GeneCard:LRP10, HGNC:HGNC:14553, ModBase:Q7Z4F1, NCBI Gene:26020, OMIM:609921, RefSeq DNA:NT_026437, RefSeq Protein:NP_054764, RefSeq RNA:NM_014045, UCSC Genome Browser:NM_014045, UniProtKB:Q7Z4F1 No chr14 23340822 23350789 22871613 22881580 +PA134880462 84918 HGNC:16936 ENSG00000120256 LDL receptor related protein 11 LRP11 low density lipoprotein receptor-related protein 11 MANSC3, bA350J20.3 Yes No Comparative Toxicogenomics Database:84918, Ensembl:ENSG00000120256, GeneCard:LRP11, HGNC:HGNC:16936, HumanCyc Gene:HS12980, ModBase:Q86VZ4, NCBI Gene:84918, RefSeq DNA:NT_025741, RefSeq Protein:NP_116221, RefSeq RNA:NM_032832, UniProtKB:B4DS68, UniProtKB:Q86VZ4 No chr6 150139894 150186398 149818758 149864344 +PA134921850 29967 HGNC:31708 ENSG00000147650 LDL receptor related protein 12 LRP12 low density lipoprotein receptor-related protein 12 FLJ12929, ST7 Yes No Ensembl:ENSG00000147650, GeneCard:LRP12, HGNC:HGNC:31708, HumanCyc Gene:HS07461, ModBase:Q9Y561, NCBI Gene:29967, RefSeq DNA:NT_008046, RefSeq Protein:NP_001129175, RefSeq Protein:NP_038465, RefSeq RNA:NM_001135703, RefSeq RNA:NM_013437, UniProtKB:B4DRQ2, UniProtKB:Q59H02, UniProtKB:Q9Y561 No chr8 105501459 105601252 104489231 104589024 +PA30451 53353 HGNC:6693 ENSG00000168702 LDL receptor related protein 1B LRP1B LRP-deleted in tumors, low density lipoprotein receptor-related protein 1B LRP-DIT, LRPDIT Yes Yes Comparative Toxicogenomics Database:53353, Ensembl:ENSG00000168702, GenAtlas:LRP1B, GeneCard:LRP1B, HGNC:HGNC:6693, HumanCyc Gene:HS09807, ModBase:Q9NZR2, NCBI Gene:53353, OMIM:608766, RefSeq DNA:NT_022135, RefSeq Protein:NP_061027, RefSeq RNA:NM_018557, UCSC Genome Browser:NM_018557, UniProtKB:Q9NZR2 No chr2 140988996 142889270 140231423 142132463 +PA30452 4036 HGNC:6694 ENSG00000081479 LDL receptor related protein 2 LRP2 low density lipoprotein receptor-related protein 2, megalin DBS, gp330 Yes Yes Comparative Toxicogenomics Database:4036, Ensembl:ENSG00000081479, GenAtlas:LRP2, GeneCard:LRP2, HGNC:HGNC:6694, HumanCyc Gene:HS01397, ModBase:P98164, NCBI Gene:4036, OMIM:222448, OMIM:600073, RefSeq DNA:NG_012634, RefSeq DNA:NT_005403, RefSeq Protein:NP_004516, RefSeq RNA:NM_004525, UCSC Genome Browser:NM_004525, UniProtKB:P98164, UniProtKB:Q7Z5C0, UniProtKB:Q7Z5C1 No chr2 169983619 170219123 169127109 169362613 +PA142671538 55805 HGNC:25434 ENSG00000109771 LRP2 binding protein LRP2BP DKFZp761O0113 Yes No Ensembl:ENSG00000109771, GeneCard:LRP2BP, HGNC:HGNC:25434, HumanCyc Gene:HS12697, ModBase:Q9P2M1, NCBI Gene:55805, RefSeq DNA:NT_016354, RefSeq Protein:NP_060879, RefSeq RNA:NM_018409, UniProtKB:Q9P2M1 No chr4 186285032 186318297 185363878 185397160 +PA30453 4037 HGNC:6695 ENSG00000130881 LDL receptor related protein 3 LRP3 low density lipoprotein receptor-related protein 3 LRP-3, hLRp105 Yes No Comparative Toxicogenomics Database:4037, Ensembl:ENSG00000130881, GenAtlas:LRP3, GeneCard:LRP3, HGNC:HGNC:6695, HumanCyc Gene:HS05458, ModBase:O75074, NCBI Gene:4037, OMIM:603159, RefSeq DNA:NT_011109, RefSeq Protein:NP_002324, RefSeq RNA:NM_002333, UCSC Genome Browser:NM_002333, UniProtKB:O75074 No chr19 33685599 33699773 33194693 33208867 +PA30454 4038 HGNC:6696 ENSG00000134569 LDL receptor related protein 4 LRP4 low density lipoprotein receptor-related protein 4, multiple EGF like domains 7 CLSS, LRP-4, MEGF7, SOST2 Yes No Comparative Toxicogenomics Database:4038, Ensembl:ENSG00000134569, GenAtlas:LRP4, GeneCard:LRP4, HGNC:HGNC:6696, HumanCyc Gene:HS05886, ModBase:O75096, NCBI Gene:4038, OMIM:212780, OMIM:604270, RefSeq DNA:NG_021394, RefSeq DNA:NT_009237, RefSeq Protein:NP_002325, RefSeq RNA:NM_002334, UniProtKB:O75096 No chr11 46878268 46940173 46854715 46918622 +PA30455 4041 HGNC:6697 ENSG00000162337 LDL receptor related protein 5 LRP5 low density lipoprotein receptor-related protein 5 BMND1, EVR1, EVR4, HBM, LR3, LRP7, OPPG, OPS, OPTA1, VBCH2 Yes Yes Comparative Toxicogenomics Database:4041, Ensembl:ENSG00000162337, GenAtlas:LRP5, GeneCard:LRP5, HGNC:HGNC:6697, HumanCyc Gene:HS08657, ModBase:O75197, NCBI Gene:4041, OMIM:144750, OMIM:166710, OMIM:259770, OMIM:601813, OMIM:601884, OMIM:603506, OMIM:607634, OMIM:607636, RefSeq DNA:NG_015835, RefSeq DNA:NT_167190, RefSeq Protein:NP_002326, RefSeq RNA:NM_002335, UCSC Genome Browser:NM_002335, UniProtKB:O75197, UniProtKB:Q9UES7 No chr11 68080077 68216743 68298866 68449275 +PA142671533 91355 HGNC:25323 ENSG00000100068 LDL receptor related protein 5 like LRP5L low density lipoprotein receptor-related protein 5-like DKFZp434O0213 Yes No Ensembl:ENSG00000100068, GeneCard:LRP5L, HGNC:HGNC:25323, ModBase:A4QPB2, NCBI Gene:91355, RefSeq DNA:NT_011520, RefSeq Protein:NP_001129244, RefSeq Protein:NP_872298, RefSeq RNA:NM_001135772, RefSeq RNA:NM_182492, UniProtKB:A4QPB2 No chr22 25747218 25801337 25351418 25405410 +PA30456 4040 HGNC:6698 ENSG00000070018 LDL receptor related protein 6 LRP6 low density lipoprotein receptor-related protein 6 ADCAD2 Yes No Comparative Toxicogenomics Database:4040, Ensembl:ENSG00000070018, GenAtlas:LRP6, GeneCard:LRP6, HGNC:HGNC:6698, HumanCyc Gene:HS00978, ModBase:O75581, NCBI Gene:4040, OMIM:603507, OMIM:610947, RefSeq DNA:NG_016168, RefSeq DNA:NT_009714, RefSeq Protein:NP_002327, RefSeq RNA:NM_002336, UCSC Genome Browser:NM_002336, UniProtKB:O75581 No chr12 12268959 12419811 12116025 12267021 +PA30457 7804 HGNC:6700 ENSG00000157193 LDL receptor related protein 8 LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor APOER2, HSZ75190, LRP-8, MCI1 Yes No Comparative Toxicogenomics Database:7804, Ensembl:ENSG00000157193, GenAtlas:LRP8, GeneCard:LRP8, HGNC:HGNC:6700, HumanCyc Gene:HS08188, NCBI Gene:7804, OMIM:602600, OMIM:608446, RefSeq DNA:NG_011517, RefSeq DNA:NT_032977, RefSeq Protein:NP_001018064, RefSeq Protein:NP_004622, RefSeq Protein:NP_059992, RefSeq Protein:NP_150643, RefSeq RNA:NM_001018054, RefSeq RNA:NM_004631, RefSeq RNA:NM_017522, RefSeq RNA:NM_033300, UCSC Genome Browser:NM_004631, UniProtKB:Q14114 No chr1 53708036 53793821 53242364 53328149 +PA30458 4043 HGNC:6701 ENSG00000163956 LDL receptor related protein associated protein 1 LRPAP1 low density lipoprotein receptor-related protein associated protein 1 A2MRAP, Alpha-2-MRAP, HBP44, RAP Yes No Comparative Toxicogenomics Database:4043, Ensembl:ENSG00000163956, GenAtlas:LRPAP1, GeneCard:LRPAP1, HGNC:HGNC:6701, HumanCyc Gene:HS08974, ModBase:P30533, NCBI Gene:4043, OMIM:104225, RefSeq DNA:NT_006051, RefSeq Protein:NP_002328, RefSeq RNA:NM_002337, UCSC Genome Browser:NM_002337, UniProtKB:P30533 No chr4 3505324 3534224 3503597 3532497 +PA30459 10128 HGNC:15714 ENSG00000138095 leucine rich pentatricopeptide repeat containing LRPPRC leucine-rich pentatricopeptide repeat containing GP130, LRP130, LSFC Yes No Comparative Toxicogenomics Database:10128, Ensembl:ENSG00000138095, GenAtlas:LRPPRC, GeneCard:LRPPRC, HGNC:HGNC:15714, HumanCyc Gene:HS06454, ModBase:P42704, NCBI Gene:10128, OMIM:220111, OMIM:607544, RefSeq DNA:NG_008247, RefSeq DNA:NT_022184, RefSeq Protein:NP_573566, RefSeq RNA:NM_133259, UCSC Genome Browser:NM_133259, UniProtKB:P42704 No chr2 44113363 44223144 43886224 43996005 +PA134915321 122769 HGNC:19742 ENSG00000165501 leucine rich repeat protein 1 LRR1 LRR-repeat protein 1 LRR-1, MGC20689, PPIL5 Yes No Ensembl:ENSG00000165501, GeneCard:PPIL5, HGNC:HGNC:19742, HumanCyc Gene:HS15331, ModBase:Q96L50, NCBI Gene:122769, OMIM:609193, RefSeq DNA:NT_026437, RefSeq Protein:NP_689542, RefSeq Protein:NP_982292, RefSeq RNA:NM_152329, RefSeq RNA:NM_203467, RefSeq RNA:NR_037792, RefSeq RNA:NR_037793, UniProtKB:Q96L50 No chr14 50065383 50081390 49598697 49614672 +PA30460 55227 HGNC:14307 ENSG00000137269 leucine rich repeat containing 1 LRRC1 FLJ10775, FLJ11834, LANO, dJ523E19.1 Yes No Comparative Toxicogenomics Database:55227, Ensembl:ENSG00000137269, GenAtlas:LRRC1, GeneCard:LRRC1, HGNC:HGNC:14307, ModBase:Q9BTT6, NCBI Gene:55227, OMIM:608195, RefSeq DNA:NT_007592, RefSeq Protein:NP_060684, RefSeq RNA:NM_018214, UniProtKB:Q9BTT6 No chr6 53659295 53789490 53794497 53924125 +PA134896853 376132 HGNC:20264 ENSG00000198812 leucine rich repeat containing 10 LRRC10 heart-restricted leucine-rich repeat protein HRLRRP, LRRC10A Yes No Ensembl:ENSG00000198812, GeneCard:LRRC10, HGNC:HGNC:20264, ModBase:Q5BKY1, NCBI Gene:376132, OMIM:610846, RefSeq DNA:NT_029419, RefSeq Protein:NP_963844, RefSeq RNA:NM_201550, UniProtKB:Q5BKY1 No chr12 70002344 70004942 69608564 69611162 +PA165543456 390205 HGNC:37215 ENSG00000204950 leucine rich repeat containing 10B LRRC10B Yes No Ensembl:ENSG00000204950, GeneCard:LRRC10B, HGNC:HGNC:37215, NCBI Gene:390205, RefSeq DNA:NT_167190, RefSeq Protein:NP_001138549, RefSeq RNA:NM_001145077, UniProtKB:A6NIK2 No chr11 61276272 61278490 61508800 61511018 +PA134914089 9684 HGNC:20419 ENSG00000160959 leucine rich repeat containing 14 LRRC14 KIAA0014, LRRC14A Yes No Ensembl:ENSG00000160959, GeneCard:LRRC14, HGNC:HGNC:20419, HumanCyc Gene:HS14839, ModBase:Q15048, NCBI Gene:9684, RefSeq DNA:NT_037704, RefSeq Protein:NP_055480, RefSeq RNA:NM_014665, UniProtKB:Q15048 No chr8 145743349 145750562 144517965 144525178 +PA165660376 389257 HGNC:37268 ENSG00000185028 leucine rich repeat containing 14B LRRC14B Yes No Ensembl:ENSG00000185028, GeneCard:LRRC14B, HGNC:HGNC:37268, NCBI Gene:389257, RefSeq DNA:NT_006576, RefSeq Protein:NP_001073947, RefSeq RNA:NM_001080478 No chr5 191626 195468 191511 195353 +PA134956867 131578 HGNC:20818 ENSG00000172061 leucine rich repeat containing 15 LRRC15 LIB Yes Yes Ensembl:ENSG00000172061, GeneCard:LRRC15, HGNC:HGNC:20818, HumanCyc Gene:HS16052, ModBase:Q8TF66, NCBI Gene:131578, RefSeq DNA:NT_029928, RefSeq Protein:NP_001128529, RefSeq Protein:NP_570843, RefSeq RNA:NM_001135057, RefSeq RNA:NM_130830, UniProtKB:B3KWI4, UniProtKB:Q495Q6, UniProtKB:Q8TF66 No chr3 194075976 194090472 194355247 194369743 +PA134866295 10234 HGNC:16895 ENSG00000128606 leucine rich repeat containing 17 LRRC17 H_RG318M05.3, P37NB Yes No Ensembl:ENSG00000128606, GeneCard:LRRC17, HGNC:HGNC:16895, HumanCyc Gene:HS05205, ModBase:Q8N6Y2, NCBI Gene:10234, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001026862, RefSeq Protein:NP_005815, RefSeq RNA:NM_001031692, RefSeq RNA:NM_005824, UniProtKB:Q8N6Y2 No chr7 102553344 102585558 102912897 102945111 +PA134898691 474354 HGNC:23199 ENSG00000165383 leucine rich repeat containing 18 LRRC18 MGC34773, UNQ933, UNQ9338, VKGE9338 Yes No Comparative Toxicogenomics Database:474354, Ensembl:ENSG00000165383, GeneCard:LRRC18, HGNC:HGNC:23199, ModBase:Q8N456, NCBI Gene:474354, RefSeq DNA:NT_030059, RefSeq Protein:NP_001006940, RefSeq RNA:NM_001006939, UniProtKB:Q8N456 No chr10 50117528 50147980 48881011 48940126 +PA134892454 64922 HGNC:23379 ENSG00000184434 leucine rich repeat containing 19 LRRC19 FLJ21302 Yes No Ensembl:ENSG00000184434, GeneCard:LRRC19, HGNC:HGNC:23379, ModBase:Q9H756, NCBI Gene:64922, RefSeq DNA:NT_008413, RefSeq Protein:NP_075052, RefSeq RNA:NM_022901, UniProtKB:Q9H756 No chr9 26993134 27005691 26993136 27005693 +PA30461 79442 HGNC:14676 ENSG00000163827 leucine rich repeat containing 2 LRRC2 Yes No Ensembl:ENSG00000163827, GenAtlas:LRRC2, GeneCard:LRRC2, HGNC:HGNC:14676, HumanCyc Gene:HS15113, ModBase:Q9BYS8, NCBI Gene:79442, OMIM:607180, RefSeq DNA:NG_021214, RefSeq DNA:NT_022517, RefSeq Protein:NP_078788, RefSeq Protein:NP_079026, RefSeq RNA:NM_024512, RefSeq RNA:NM_024750, UCSC Genome Browser:NM_024512, UniProtKB:Q9BYS8 No chr3 46556875 46621589 46515385 46580099 +PA134935389 55222 HGNC:23421 ENSG00000172731 leucine rich repeat containing 20 LRRC20 FLJ10751, FLJ10844 Yes No Ensembl:ENSG00000172731, GeneCard:LRRC20, HGNC:HGNC:23421, HumanCyc Gene:HS16122, ModBase:Q8TCA0, NCBI Gene:55222, RefSeq DNA:NT_030059, RefSeq Protein:NP_060675, RefSeq Protein:NP_060709, RefSeq Protein:NP_997002, RefSeq RNA:NM_018205, RefSeq RNA:NM_018239, RefSeq RNA:NM_207119, UniProtKB:Q8TCA0 No chr10 72058726 72142406 70298970 70382650 +PA143485529 10233 HGNC:19138 ENSG00000010626 leucine rich repeat containing 23 LRRC23 B7, LRPB7 Yes No Comparative Toxicogenomics Database:10233, Ensembl:ENSG00000010626, GeneCard:LRRC23, HGNC:HGNC:19138, HumanCyc Gene:HS12038, ModBase:Q53EV4, NCBI Gene:10233, RefSeq DNA:NT_009759, RefSeq Protein:NP_001128689, RefSeq Protein:NP_008923, RefSeq Protein:NP_964013, RefSeq RNA:NM_001135217, RefSeq RNA:NM_006992, RefSeq RNA:NM_201650, UniProtKB:A8K8K2, UniProtKB:Q53EV4 No chr12 7013897 7023406 6904733 6914242 +PA142671520 441381 HGNC:28947 ENSG00000254402 leucine rich repeat containing 24 LRRC24 LRRC14OS Yes No Ensembl:ENSG00000254402, GeneCard:LRRC24, HGNC:HGNC:28947, ModBase:Q50LG9, NCBI Gene:441381, RefSeq DNA:NT_037704, RefSeq Protein:NP_001019849, RefSeq RNA:NM_001024678, UniProtKB:Q50LG9 No chr8 145747761 145752416 144522377 144527032 +PA134957834 126364 HGNC:29806 ENSG00000175489 leucine rich repeat containing 25 LRRC25 FLJ38116, MAPA Yes No Comparative Toxicogenomics Database:126364, Ensembl:ENSG00000175489, GeneCard:LRRC25, HGNC:HGNC:29806, ModBase:Q8N386, NCBI Gene:126364, OMIM:607518, RefSeq DNA:NT_011295, RefSeq Protein:NP_660299, RefSeq RNA:NM_145256, UniProtKB:Q8N386 No chr19 18501947 18508428 18391137 18397642 +PA134952867 389816 HGNC:31409 ENSG00000184709 leucine rich repeat containing 26 LRRC26 OTTHUMG00000020980, bA350O14.10 Yes No Ensembl:ENSG00000184709, GeneCard:LRRC26, HGNC:HGNC:31409, ModBase:Q2I0M4, NCBI Gene:389816, OMIM:613505, RefSeq DNA:NT_024000, RefSeq Protein:NP_001013675, RefSeq RNA:NM_001013653, UniProtKB:Q2I0M4 No chr9 140063210 140064491 137168758 137170039 +PA134904045 80313 HGNC:29346 ENSG00000148814 leucine rich repeat containing 27 LRRC27 KIAA1674 Yes No Ensembl:ENSG00000148814, GeneCard:LRRC27, HGNC:HGNC:29346, ModBase:Q8N7C8, NCBI Gene:80313, RefSeq DNA:NT_008818, RefSeq Protein:NP_001137229, RefSeq Protein:NP_001137230, RefSeq Protein:NP_001137231, RefSeq Protein:NP_085129, RefSeq RNA:NM_001143757, RefSeq RNA:NM_001143758, RefSeq RNA:NM_001143759, RefSeq RNA:NM_030626, RefSeq RNA:NR_026559, UniProtKB:B3KUK5, UniProtKB:Q9C0I9 No chr10 134145614 134195010 132330063 132381506 +PA134864287 123355 HGNC:28355 ENSG00000168904 leucine rich repeat containing 28 LRRC28 FLJ34269, FLJ45242, MGC24976 Yes No Comparative Toxicogenomics Database:123355, Ensembl:ENSG00000168904, GeneCard:LRRC28, HGNC:HGNC:28355, ModBase:Q86X40, NCBI Gene:123355, RefSeq DNA:NT_010274, RefSeq Protein:NP_653199, RefSeq RNA:NM_144598, UniProtKB:Q86X40 No chr15 99791567 99930934 99251362 99390732 +PA28029 26231 HGNC:13605 ENSG00000125122 leucine rich repeat containing 29 LRRC29 FBL9, FBXL9 Yes No Ensembl:ENSG00000125122, GenAtlas:LRRC29, GeneCard:LRRC29, HGNC:HGNC:13605, HumanCyc Gene:HS04852, ModBase:Q8WV35, NCBI Gene:26231, RefSeq DNA:NT_010498, RefSeq Protein:NP_001004055, RefSeq Protein:NP_036295, RefSeq RNA:NM_001004055, RefSeq RNA:NM_012163, UCSC Genome Browser:NM_012163, UniProtKB:Q8WV35 No chr16 67241042 67260901 67207139 67227062 +PA30488 83598 HGNC:15571 ENSG00000268324 LRRC2 antisense RNA 1 LRRC2-AS1 Yes No Ensembl:ENSG00000268324, GenAtlas:LUZPP1, GeneCard:LUZP3P, HGNC:HGNC:15571, NCBI Gene:83598, RefSeq DNA:NG_005650, RefSeq DNA:NT_022517, UCSC Genome Browser:NM_031441 No chr3 46598888 46601178 46557398 46559688 +PA30462 81543 HGNC:14965 ENSG00000160233 leucine rich repeat containing 3 LRRC3 C21orf102, C21orf30, DKFZP434C128, LRRC3DN Yes No Comparative Toxicogenomics Database:81543, Ensembl:ENSG00000160233, GenAtlas:LRRC3, GeneCard:LRRC3, HGNC:HGNC:14965, HumanCyc Gene:HS14801, ModBase:Q9BY71, NCBI Gene:81543, RefSeq DNA:NT_011515, RefSeq Protein:NP_112153, RefSeq RNA:NM_030891, UCSC Genome Browser:NM_030891, UniProtKB:Q6ZSA1, UniProtKB:Q9BY71 No chr21 45875393 45878739 44455486 44458856 +PA134945901 339291 HGNC:30219 ENSG00000206422 leucine rich repeat containing 30 LRRC30 Yes No Ensembl:ENSG00000206422, GeneCard:LRRC30, HGNC:HGNC:30219, ModBase:A6NM36, NCBI Gene:339291, RefSeq DNA:NT_010859, RefSeq Protein:NP_001099051, RefSeq RNA:NM_001105581, UniProtKB:A6NM36 No chr18 7231137 7232042 7231139 7232044 +PA134985943 79782 HGNC:26261 ENSG00000114248 leucine rich repeat containing 31 LRRC31 FLJ23259 Yes No Ensembl:ENSG00000114248, GeneCard:LRRC31, HGNC:HGNC:26261, HumanCyc Gene:HS12813, ModBase:Q6UY01, NCBI Gene:79782, RefSeq DNA:NT_005612, RefSeq Protein:NP_079003, RefSeq RNA:NM_024727, UniProtKB:Q6UY01 No chr3 169557029 169587723 169839175 169869935 +PA28574 2615 HGNC:4161 ENSG00000137507 leucine rich repeat containing 32 LRRC32 D11S833E, GARP Yes No Ensembl:ENSG00000137507, GenAtlas:LRRC32, GeneCard:LRRC32, HGNC:HGNC:4161, HumanCyc Gene:HS06355, ModBase:Q14392, NCBI Gene:2615, OMIM:137207, RefSeq DNA:NT_167190, RefSeq Protein:NP_001122394, RefSeq Protein:NP_005503, RefSeq RNA:NM_001128922, RefSeq RNA:NM_005512, UCSC Genome Browser:NM_005512, UniProtKB:Q14392 No chr11 76368568 76381990 76657441 76670941 +PA142671522 151827 HGNC:28408 ENSG00000171757 leucine rich repeat containing 34 LRRC34 MGC27085 Yes No Ensembl:ENSG00000171757, GeneCard:LRRC34, HGNC:HGNC:28408, HumanCyc Gene:HS16018, ModBase:Q8IZ02, NCBI Gene:151827, RefSeq DNA:NT_005612, RefSeq Protein:NP_001166250, RefSeq Protein:NP_001166251, RefSeq Protein:NP_699184, RefSeq RNA:NM_001172779, RefSeq RNA:NM_001172780, RefSeq RNA:NM_153353, UniProtKB:B4DEJ7, UniProtKB:B4DHF2, UniProtKB:Q8IZ02 No chr3 169511216 169530574 169793006 169812904 +PA142671524 55282 HGNC:25615 ENSG00000159708 leucine rich repeat containing 36 LRRC36 FLJ11004 Yes No Ensembl:ENSG00000159708, GeneCard:LRRC36, HGNC:HGNC:25615, HumanCyc Gene:HS14775, NCBI Gene:55282, RefSeq DNA:NT_010498, RefSeq Protein:NP_001155047, RefSeq Protein:NP_060766, RefSeq RNA:NM_001161575, RefSeq RNA:NM_018296, UniProtKB:Q1X8D7 No chr16 67360747 67419109 67326844 67385206 +PA128395758 9884 HGNC:29069 ENSG00000176681 leucine rich repeat containing 37A LRRC37A KIAA0563, LRRC37A1 Yes No Ensembl:ENSG00000176681, GeneCard:LRRC37A, HGNC:HGNC:29069, ModBase:A6NMS7, NCBI Gene:9884, RefSeq DNA:NT_010783, RefSeq Protein:NP_055649, RefSeq RNA:NM_014834, UCSC Genome Browser:NM_014834 No chr17 44316744 44415160 46248044 46339367 +PA162394530 474170 HGNC:32404 ENSG00000238083 leucine rich repeat containing 37 member A2 LRRC37A2 """c114 SLIT-like testicular protein"", ""leucine rich repeat containing 37, member A2""" FLJ45049 Yes No Ensembl:ENSG00000238083, GeneCard:LRRC37A2, HGNC:HGNC:32404, ModBase:A6NM11, NCBI Gene:474170, RefSeq DNA:NT_010783, RefSeq DNA:NT_167251, RefSeq Protein:NP_001006608, RefSeq RNA:NM_001006607, UniProtKB:A6NM11, UniProtKB:Q5YKG5 No chr17 44587323 44633016 46512657 46556747 +PA162394563 374819 HGNC:32427 ENSG00000176809 leucine rich repeat containing 37 member A3 LRRC37A3 leucine rich repeat containing 37, member A3 FLJ34306, KIAA0563 Yes No Ensembl:ENSG00000176809, GeneCard:LRRC37A3, HGNC:HGNC:32427, NCBI Gene:374819, RefSeq DNA:NT_010783, RefSeq Protein:NP_955372, RefSeq RNA:NM_199340, UniProtKB:O60309 No chr17 62850486 62914903 64854147 64966228 +PA142672310 652972 HGNC:23369 ENSG00000204173 leucine rich repeat containing 37, member A5, pseudogene LRRC37A5P Yes No Ensembl:ENSG00000204173, GeneCard:LRRC37A5P, HGNC:HGNC:23369, NCBI Gene:652972, RefSeq DNA:NT_008470, RefSeq RNA:NR_034087, RefSeq RNA:XR_042069, RefSeq RNA:XR_042070, RefSeq RNA:XR_042071 No chr9 114365111 114375833 111602831 111613553 +PA142671525 114659 HGNC:29070 ENSG00000185158 leucine rich repeat containing 37B LRRC37B KIAA0563-related Yes No Ensembl:ENSG00000185158, GeneCard:LRRC37B, HGNC:HGNC:29070, ModBase:Q96QE4, NCBI Gene:114659, RefSeq DNA:NT_010799, RefSeq Protein:NP_443120, RefSeq RNA:NM_052888, UniProtKB:Q96QE4 No chr17 30348155 30380519 32007872 32053500 +PA142671526 126755 HGNC:27005 ENSG00000162494 leucine rich repeat containing 38 LRRC38 Yes No Ensembl:ENSG00000162494, GeneCard:LRRC38, HGNC:HGNC:27005, ModBase:Q5VT99, NCBI Gene:126755, RefSeq DNA:NT_004610, RefSeq Protein:NP_001010847, RefSeq Protein:XP_001713994, RefSeq Protein:XP_059074, RefSeq Protein:XP_948754, RefSeq RNA:NM_001010847, RefSeq RNA:XM_001713942, RefSeq RNA:XM_059074, RefSeq RNA:XM_943661 No chr1 13801445 13840242 13474977 13513747 +PA142671527 127495 HGNC:28228 ENSG00000122477 leucine rich repeat containing 39 LRRC39 Myosin-interacting, M-band-associated stress-responsive protein MGC14816, myomasp Yes No Comparative Toxicogenomics Database:127495, Ensembl:ENSG00000122477, GeneCard:LRRC39, HGNC:HGNC:28228, HumanCyc Gene:HS13052, ModBase:Q96DD0, NCBI Gene:127495, RefSeq DNA:NT_032977, RefSeq Protein:NP_653221, RefSeq RNA:NM_144620, UniProtKB:Q96DD0 No chr1 100614004 100643829 100148448 100178273 +PA134962068 116135 HGNC:28105 ENSG00000179796 leucine rich repeat containing 3B LRRC3B LRP15 Yes No Comparative Toxicogenomics Database:116135, Ensembl:ENSG00000179796, GeneCard:LRRC3B, HGNC:HGNC:28105, HumanCyc Gene:HS17354, ModBase:Q96PB8, NCBI Gene:116135, RefSeq DNA:NT_022517, RefSeq Protein:NP_443185, RefSeq RNA:NM_052953, UniProtKB:Q96PB8 No chr3 26664300 26752267 26622806 26717301 +PA166049056 100505591 HGNC:40034 ENSG00000204913 leucine rich repeat containing 3C LRRC3C Yes No Ensembl:ENSG00000204913, HGNC:HGNC:40034, NCBI Gene:100505591 No chr17 38097727 38100987 39927722 39944999 +PA30463 64101 HGNC:15586 ENSG00000128594 leucine rich repeat containing 4 LRRC4 netrin-G ligand-2 NAG14, NGL-2 Yes No Ensembl:ENSG00000128594, GenAtlas:LRRC4, GeneCard:LRRC4, HGNC:HGNC:15586, HumanCyc Gene:HS13267, ModBase:Q9HBW1, NCBI Gene:64101, OMIM:610486, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_071426, RefSeq RNA:NM_022143, UniProtKB:Q9HBW1 No chr7 127667124 127671002 128027071 128032273 +PA142671528 55631 HGNC:26004 ENSG00000066557 leucine rich repeat containing 40 LRRC40 FLJ20331 Yes No Ensembl:ENSG00000066557, GeneCard:LRRC40, HGNC:HGNC:26004, HumanCyc Gene:HS00882, ModBase:Q9H9A6, NCBI Gene:55631, RefSeq DNA:NT_032977, RefSeq Protein:NP_060238, RefSeq RNA:NM_017768, UniProtKB:Q9H9A6 No chr1 70610485 70671361 70144802 70205678 +PA142671529 10489 HGNC:16917 ENSG00000132128 leucine rich repeat containing 41 LRRC41 MUF1 Yes No Comparative Toxicogenomics Database:10489, Ensembl:ENSG00000132128, GeneCard:LRRC41, HGNC:HGNC:16917, HumanCyc Gene:HS13416, ModBase:Q15345, NCBI Gene:10489, RefSeq DNA:NT_032977, RefSeq Protein:NP_006360, RefSeq RNA:NM_006369, UniProtKB:Q15345 No chr1 46744072 46769038 46278400 46303366 +PA142671530 115353 HGNC:28792 ENSG00000116212 leucine rich repeat containing 42 LRRC42 MGC8974 Yes No Ensembl:ENSG00000116212, GeneCard:LRRC42, HGNC:HGNC:28792, HumanCyc Gene:HS12863, ModBase:Q9Y546, NCBI Gene:115353, RefSeq DNA:NT_032977, RefSeq Protein:NP_443172, RefSeq RNA:NM_052940, UniProtKB:Q9Y546 No chr1 54411999 54433841 53946077 53968168 +PA142671531 254050 HGNC:28562 ENSG00000158113 leucine rich repeat containing 43 LRRC43 MGC35140 Yes No Ensembl:ENSG00000158113, GeneCard:LRRC43, HGNC:HGNC:28562, HumanCyc Gene:HS14697, ModBase:Q8N309, NCBI Gene:254050, RefSeq DNA:NT_009755, RefSeq Protein:NP_001091989, RefSeq Protein:NP_689972, RefSeq RNA:NM_001098519, RefSeq RNA:NM_152759, UniProtKB:Q8N309 No chr12 122652266 122688018 122167719 122203471 +PA142671505 201255 HGNC:28302 ENSG00000169683 leucine rich repeat containing 45 LRRC45 MGC20806 Yes No Ensembl:ENSG00000169683, GeneCard:LRRC45, HGNC:HGNC:28302, HumanCyc Gene:HS15804, ModBase:Q96CN5, NCBI Gene:201255, RefSeq DNA:NT_010663, RefSeq Protein:NP_659436, RefSeq RNA:NM_144999, UniProtKB:Q96CN5 No chr17 79981280 79989027 82023252 82031151 +PA142671506 90506 HGNC:25047 ENSG00000141294 leucine rich repeat containing 46 LRRC46 MGC16309 Yes No Ensembl:ENSG00000141294, GeneCard:LRRC46, HGNC:HGNC:25047, HumanCyc Gene:HS13869, ModBase:Q96FV0, NCBI Gene:90506, RefSeq DNA:NT_010783, RefSeq Protein:NP_219481, RefSeq RNA:NM_033413, UniProtKB:A8K9Q0, UniProtKB:Q96FV0 No chr17 45908993 45915079 47831627 47837713 +PA142671507 57470 HGNC:29207 ENSG00000130764 leucine rich repeat containing 47 LRRC47 KIAA1185, RP1-286D6.3 Yes No Comparative Toxicogenomics Database:57470, Ensembl:ENSG00000130764, GeneCard:LRRC47, HGNC:HGNC:29207, HumanCyc Gene:HS13352, ModBase:Q8N1G4, NCBI Gene:57470, RefSeq DNA:NT_004350, RefSeq Protein:NP_065761, RefSeq RNA:NM_020710, UniProtKB:Q8N1G4 No chr1 3696784 3713068 3780220 3796504 +PA142671509 54839 HGNC:25965 ENSG00000137821 leucine rich repeat containing 49 LRRC49 centriolar satellite-associated tubulin polyglutamylation protein 2, polyglutamylase subunit 4 CSTPP2, FLJ20156, PGs4 Yes No Ensembl:ENSG00000137821, GeneCard:LRRC49, HGNC:HGNC:25965, HumanCyc Gene:HS13698, ModBase:Q8IUZ0, NCBI Gene:54839, RefSeq DNA:NT_010194, RefSeq Protein:NP_001185946, RefSeq Protein:NP_001185947, RefSeq Protein:NP_060161, RefSeq RNA:NM_001199017, RefSeq RNA:NM_001199018, RefSeq RNA:NM_017691, UniProtKB:Q8IUZ0 No chr15 71145578 71342436 70852671 71050097 +PA134890612 94030 HGNC:25042 ENSG00000131409 leucine rich repeat containing 4B LRRC4B netrin-G ligand-3, netrin-G3 ligand DKFZp761A179, HSM, LRIG4, NGL-3 Yes No Comparative Toxicogenomics Database:94030, Ensembl:ENSG00000131409, GeneCard:LRRC4B, HGNC:HGNC:25042, ModBase:Q9NT99, NCBI Gene:94030, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073926, RefSeq RNA:NM_001080457, UniProtKB:Q9NT99 No chr19 51020149 51071302 50516892 50568208 +PA142671534 57689 HGNC:29317 ENSG00000148948 leucine rich repeat containing 4C LRRC4C netrin-G ligand-1 KIAA1580, NGL-1 Yes No Ensembl:ENSG00000148948, GeneCard:LRRC4C, HGNC:HGNC:29317, ModBase:Q9HCJ2, NCBI Gene:57689, OMIM:608817, RefSeq DNA:NT_009237, RefSeq Protein:NP_065980, RefSeq RNA:NM_020929, UniProtKB:Q9HCJ2 No chr11 40135524 41481186 40107066 41460212 +PA166351943 120356739 HGNC:55526 leucine rich repeat containing 51 LRRC51 Yes No HGNC:HGNC:55526, NCBI Gene:120356739 No 0 0 0 0 +PA142671512 440699 HGNC:32156 ENSG00000162763 leucine rich repeat containing 52 LRRC52 FLJ25811 Yes No Ensembl:ENSG00000162763, GeneCard:LRRC52, HGNC:HGNC:32156, ModBase:Q8N7C0, NCBI Gene:440699, RefSeq DNA:NT_004487, RefSeq Protein:NP_001005214, RefSeq RNA:NM_001005214, UniProtKB:Q8N7C0 No chr1 165513478 165533185 165544241 165563948 +PA162394564 105378803 HGNC:25255 ENSG00000162621 leucine rich repeat containing 53 LRRC53 Yes No Ensembl:ENSG00000162621, GeneCard:LRRC53, HGNC:HGNC:25255, NCBI Gene:105378803 No chr1 +PA142671514 219527 HGNC:32324 ENSG00000183908 leucine rich repeat containing 55 LRRC55 FLJ45686 Yes No Ensembl:ENSG00000183908, GeneCard:LRRC55, HGNC:HGNC:32324, ModBase:Q6ZSA7, NCBI Gene:219527, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005210, RefSeq RNA:NM_001005210, UniProtKB:Q6ZSA7 No chr11 56949221 56959188 57181747 57191714 +PA142671515 115399 HGNC:25430 ENSG00000161328 leucine rich repeat containing 56 LRRC56 dynein axonemal assembly factor 12 DKFZp761L1518, DNAAF12, FLJ00101, oda8 Yes No Ensembl:ENSG00000161328, GeneCard:LRRC56, HGNC:HGNC:25430, ModBase:Q8IYG6, NCBI Gene:115399, RefSeq DNA:NT_009237, RefSeq Protein:NP_932341, RefSeq RNA:NM_198075, UniProtKB:Q8IYG6 No chr11 536722 554916 518967 554916 +PA142671516 255252 HGNC:26719 ENSG00000180979 leucine rich repeat containing 57 LRRC57 FLJ36812 Yes No Ensembl:ENSG00000180979, GeneCard:LRRC57, HGNC:HGNC:26719, HumanCyc Gene:HS17603, ModBase:Q8N9N7, NCBI Gene:255252, RefSeq DNA:NT_010194, RefSeq Protein:NP_694992, RefSeq RNA:NM_153260, UniProtKB:Q8N9N7 No chr15 42834720 42841002 42528332 42548804 +PA142671517 116064 HGNC:26968 ENSG00000163428 leucine rich repeat containing 58 LRRC58 Yes No Comparative Toxicogenomics Database:116064, Ensembl:ENSG00000163428, GeneCard:LRRC58, HGNC:HGNC:26968, ModBase:Q96CX6, NCBI Gene:116064, RefSeq DNA:NT_005612, RefSeq Protein:NP_001093148, RefSeq RNA:NM_001099678, UniProtKB:Q96CX6 No chr3 120043576 120068186 120324729 120349339 +PA142671518 55379 HGNC:28817 ENSG00000108829 leucine rich repeat containing 59 LRRC59 FLJ21675, PRO1855 Yes No Comparative Toxicogenomics Database:55379, Ensembl:ENSG00000108829, GeneCard:LRRC59, HGNC:HGNC:28817, HumanCyc Gene:HS12681, ModBase:Q96AG4, NCBI Gene:55379, RefSeq DNA:NT_010783, RefSeq Protein:NP_060979, RefSeq RNA:NM_018509, UniProtKB:Q96AG4 No chr17 48458594 48474914 50381233 50397553 +PA143485530 65999 HGNC:21704 ENSG00000127399 leucine rich repeat containing 61 LRRC61 FLJ31392, HSPC295, MGC3036 Yes No Ensembl:ENSG00000127399, GeneCard:LRRC61, HGNC:HGNC:21704, HumanCyc Gene:HS13237, ModBase:Q9BV99, NCBI Gene:65999, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001136400, RefSeq Protein:NP_076431, RefSeq RNA:NM_001142928, RefSeq RNA:NM_023942, UniProtKB:Q9BV99 No chr7 150020296 150035245 150322639 150338156 +PA162394565 220416 HGNC:34296 ENSG00000173988 leucine rich repeat containing 63 LRRC63 RP11-139H14.4 Yes No Ensembl:ENSG00000173988, GeneCard:LRRC63, HGNC:HGNC:34296, NCBI Gene:220416, RefSeq DNA:NT_024524, RefSeq Protein:XP_001714829, RefSeq Protein:XP_001716703, RefSeq Protein:XP_001718393, RefSeq Protein:XP_003403561, RefSeq RNA:XM_001714777, RefSeq RNA:XM_001716651, RefSeq RNA:XM_001718341, RefSeq RNA:XM_003403513 No chr13 46786083 46850944 46211919 46276822 +PA162394587 339977 HGNC:34299 ENSG00000188993 leucine rich repeat containing 66 LRRC66 Yes No Ensembl:ENSG00000188993, GeneCard:LRRC66, HGNC:HGNC:34299, ModBase:Q68CR7, NCBI Gene:339977, RefSeq DNA:NT_022853, RefSeq Protein:NP_001019782, RefSeq RNA:NM_001024611, UniProtKB:Q68CR7 No chr4 52859806 52886477 51993640 52020311 +PA162394619 100130742 HGNC:34303 ENSG00000214954 leucine rich repeat containing 69 LRRC69 Yes No Ensembl:ENSG00000214954, GeneCard:LRRC69, HGNC:HGNC:34303, NCBI Gene:100130742, RefSeq DNA:NT_008046, RefSeq Protein:NP_001123362, RefSeq RNA:NM_001129890, UniProtKB:Q6ZNQ3 No chr8 92114847 92231473 91102619 91219236 +PA134879588 57554 HGNC:18531 ENSG00000033122 leucine rich repeat containing 7 LRRC7 KIAA1365, densin-180 Yes No Ensembl:ENSG00000033122, GeneCard:LRRC7, HGNC:HGNC:18531, HumanCyc Gene:HS00490, ModBase:Q96NW7, NCBI Gene:57554, RefSeq DNA:NT_032977, RefSeq Protein:NP_065845, RefSeq RNA:NM_020794, UniProtKB:Q96NW7 No chr1 70033230 70589171 69567130 70152426 +PA164722127 100130733 HGNC:35155 ENSG00000186105 leucine rich repeat containing 70 LRRC70 synleurin LOC100130733, SLRN Yes No Ensembl:ENSG00000186105, GeneCard:LRRC70, HGNC:HGNC:35155, NCBI Gene:100130733, RefSeq DNA:NT_006713, RefSeq Protein:NP_852607, RefSeq RNA:NM_181506, UniProtKB:Q7Z2Q7 No chr5 61874562 61877275 62578735 62581448 +PA142672476 149499 HGNC:26556 ENSG00000160838 leucine rich repeat containing 71 LRRC71 C1orf92, FLJ32884 Yes No Ensembl:ENSG00000160838, GeneCard:C1orf92, HGNC:HGNC:26556, HumanCyc Gene:HS14833, ModBase:Q8N4P6, NCBI Gene:149499, RefSeq DNA:NT_004487, RefSeq Protein:NP_653303, RefSeq RNA:NM_144702, UniProtKB:A8K8H7, UniProtKB:Q8N4P6 No chr1 156890400 156902881 156920608 156941208 +PA166049094 100506049 HGNC:42972 ENSG00000205858 leucine rich repeat containing 72 LRRC72 CFAP279, FAP279 Yes No Ensembl:ENSG00000205858, HGNC:HGNC:42972, NCBI Gene:100506049 No chr7 16566505 16621114 16526827 16581554 +PA134973511 221424 HGNC:21375 ENSG00000204052 leucine rich repeat containing 73 LRRC73 C6orf154, dJ337H4.2 Yes No Ensembl:ENSG00000204052, GeneCard:C6orf154, HGNC:HGNC:21375, ModBase:Q5JTD7, NCBI Gene:221424, RefSeq DNA:NT_007592, RefSeq Protein:NP_001012992, RefSeq RNA:NM_001012974, UniProtKB:Q5JTD7 No chr6 43474703 43478081 43506965 43510343 +PA134862662 145497 HGNC:23346 ENSG00000100565 leucine rich repeat containing 74A LRRC74A chromosome 14 open reading frame 166B C14orf166B, LRRC74 Yes No Ensembl:ENSG00000100565, GeneCard:C14orf166B, HGNC:HGNC:23346, ModBase:Q0VAA2, NCBI Gene:145497, RefSeq DNA:NT_026437, RefSeq Protein:NP_919263, RefSeq RNA:NM_194287, UniProtKB:Q0VAA2 No chr14 77292725 77336656 76826370 76870302 +PA166123701 400891 HGNC:34301 ENSG00000187905 leucine rich repeat containing 74B LRRC74B Yes No Ensembl:ENSG00000187905, HGNC:HGNC:34301, NCBI Gene:400891 No +PA143485400 388341 HGNC:32403 ENSG00000181350 leucine rich repeat containing 75A LRRC75A family with sequence similarity 211, member A C17orf76, FAM211A, FLJ35696 Yes No Ensembl:ENSG00000181350, GeneCard:C17orf76, HGNC:HGNC:32403, NCBI Gene:388341, RefSeq DNA:NT_010718, RefSeq Protein:NP_001107039, RefSeq Protein:NP_997270, RefSeq RNA:NM_001113567, RefSeq RNA:NM_207387, UniProtKB:Q8NAA5 No chr17 16345319 16395505 16442005 16492191 +PA162378982 388886 HGNC:33155 ENSG00000178026 leucine rich repeat containing 75B LRRC75B family with sequence similarity 211, member B C22orf36, FAM211B, MGC131773 Yes No Ensembl:ENSG00000178026, GeneCard:C22orf36, HGNC:HGNC:33155, ModBase:Q2VPJ9, NCBI Gene:388886, RefSeq DNA:NT_011520, RefSeq Protein:NP_997527, RefSeq RNA:NM_207644, UniProtKB:Q2VPJ9 No chr22 24981588 24989073 24585620 24593104 +PA134909315 56262 HGNC:19027 ENSG00000136802 leucine rich repeat containing 8 VRAC subunit A LRRC8A leucine rich repeat containing 8 family, member A FLJ10337, KIAA1437, LRRC8, SWELL1 Yes No Comparative Toxicogenomics Database:56262, Ensembl:ENSG00000136802, GeneCard:LRRC8A, HGNC:HGNC:19027, ModBase:Q8IWT6, NCBI Gene:56262, OMIM:601495, OMIM:608360, RefSeq DNA:NG_009630, RefSeq DNA:NT_008470, RefSeq Protein:NP_001120716, RefSeq Protein:NP_001120717, RefSeq Protein:NP_062540, RefSeq RNA:NM_001127244, RefSeq RNA:NM_001127245, RefSeq RNA:NM_019594, UniProtKB:A8K1C7, UniProtKB:Q8IWT6 No chr9 131644391 131680318 128882112 128918042 +PA142671535 23507 HGNC:30692 ENSG00000197147 leucine rich repeat containing 8 VRAC subunit B LRRC8B """T cell activation leucine repeat rich protein"", ""leucine rich repeat containing 8 family, member B""" KIAA0231, TA-LRRP Yes No Comparative Toxicogenomics Database:23507, Ensembl:ENSG00000197147, GeneCard:LRRC8B, HGNC:HGNC:30692, ModBase:Q6P9F7, NCBI Gene:23507, OMIM:612888, RefSeq DNA:NT_032977, RefSeq Protein:NP_001127948, RefSeq Protein:NP_056165, RefSeq RNA:NM_001134476, RefSeq RNA:NM_015350, UniProtKB:Q6P9F7 No chr1 89989933 90063420 89522627 89597861 +PA142671536 84230 HGNC:25075 ENSG00000171488 leucine rich repeat containing 8 VRAC subunit C LRRC8C """hypothetical protein AD158"", ""leucine rich repeat containing 8 family, member C""" AD158 Yes No Ensembl:ENSG00000171488, GeneCard:LRRC8C, HGNC:HGNC:25075, HumanCyc Gene:HS15991, ModBase:Q8TDW0, NCBI Gene:84230, OMIM:612889, RefSeq DNA:NT_032977, RefSeq Protein:NP_115646, RefSeq RNA:NM_032270, UniProtKB:Q8TDW0 No chr1 90098644 90185094 89615810 89719535 +PA30464 55144 HGNC:16992 ENSG00000171492 leucine rich repeat containing 8 VRAC subunit D LRRC8D leucine rich repeat containing 8 family, member D FLJ10470, LRRC5 Yes No Comparative Toxicogenomics Database:55144, Ensembl:ENSG00000171492, GenAtlas:LRRC8D, GeneCard:LRRC8D, HGNC:HGNC:16992, HumanCyc Gene:HS15993, ModBase:Q7L1W4, NCBI Gene:55144, OMIM:612890, RefSeq DNA:NT_032977, RefSeq Protein:NP_001127951, RefSeq Protein:NP_060573, RefSeq RNA:NM_001134479, RefSeq RNA:NM_018103, UCSC Genome Browser:NM_018103, UniProtKB:B3KRU1, UniProtKB:Q7L1W4, UniProtKB:Q96GG5 No chr1 90286573 90401991 89821014 89936432 +PA142671537 80131 HGNC:26272 ENSG00000171017 leucine rich repeat containing 8 VRAC subunit E LRRC8E leucine rich repeat containing 8 family, member E FLJ23420 Yes No Ensembl:ENSG00000171017, GeneCard:LRRC8E, HGNC:HGNC:26272, HumanCyc Gene:HS15942, ModBase:Q6NSJ5, NCBI Gene:80131, OMIM:612891, RefSeq DNA:NT_077812, RefSeq Protein:NP_079337, RefSeq RNA:NM_025061, UniProtKB:Q6NSJ5 No chr19 7953390 7966908 7888505 7902023 +PA134885088 341883 HGNC:19848 ENSG00000131951 leucine rich repeat containing 9 LRRC9 FLJ46156 Yes No Ensembl:ENSG00000131951, GeneCard:LRRC9, HGNC:HGNC:19848, NCBI Gene:341883, RefSeq DNA:NT_026437, RefSeq RNA:XR_037325, RefSeq RNA:XR_037615, RefSeq RNA:XR_037889, RefSeq RNA:XR_110295 No chr14 60386431 60530277 59919713 60063559 +PA142671519 85444 HGNC:29373 ENSG00000133739 leucine rich repeat and coiled-coil centrosomal protein 1 LRRCC1 centrosomal leucine-rich repeat and coiled-coil containing protein, variable number of flagella 1 homolog (Chlamydomonas) CLERC, KIAA1764, VFL1 Yes No Ensembl:ENSG00000133739, GeneCard:LRRCC1, HGNC:HGNC:29373, ModBase:Q9C099, NCBI Gene:85444, RefSeq DNA:NT_008183, RefSeq Protein:NP_001070969, RefSeq Protein:NP_208325, RefSeq RNA:NM_001077501, RefSeq RNA:NM_033402, UniProtKB:B4DTJ0, UniProtKB:Q9C099 No chr8 86019323 86058315 85107088 85146080 +PA166049018 401387 HGNC:34300 ENSG00000240720 leucine rich repeats and death domain containing 1 LRRD1 leucine-rich repeats and death domain containing 1 IMAGE:4798971 Yes No Ensembl:ENSG00000240720, HGNC:HGNC:34300, NCBI Gene:401387 No chr7 91774169 91808900 92144884 92165276 +PA30465 9208 HGNC:6702 ENSG00000124831 LRR binding FLII interacting protein 1 LRRFIP1 GC-binding factor 2, leucine rich repeat (in FLII) interacting protein 1 FLAP-1, FLIIAP1, GCF-2, GCF2, HUFI-1, TRIP Yes No Comparative Toxicogenomics Database:9208, Ensembl:ENSG00000124831, GenAtlas:LRRFIP1, GeneCard:LRRFIP1, HGNC:HGNC:6702, HumanCyc Gene:HS04843, NCBI Gene:9208, OMIM:603256, RefSeq DNA:NT_005120, RefSeq Protein:NP_001131022, RefSeq Protein:NP_001131023, RefSeq Protein:NP_001131024, RefSeq Protein:NP_001131025, RefSeq Protein:NP_004726, RefSeq RNA:NM_001137550, RefSeq RNA:NM_001137551, RefSeq RNA:NM_001137552, RefSeq RNA:NM_001137553, RefSeq RNA:NM_004735, UCSC Genome Browser:NM_004735, UniProtKB:Q32MZ4, UniProtKB:Q9Y607 No chr2 238536224 238690290 237627570 237781647 +PA30466 9209 HGNC:6703 ENSG00000093167 LRR binding FLII interacting protein 2 LRRFIP2 leucine rich repeat (in FLII) interacting protein 2 HUFI-2 Yes No Comparative Toxicogenomics Database:9209, Ensembl:ENSG00000093167, GenAtlas:LRRFIP2, GeneCard:LRRFIP2, HGNC:HGNC:6703, HumanCyc Gene:HS01795, ModBase:Q9Y608, NCBI Gene:9209, RefSeq DNA:NT_022517, RefSeq Protein:NP_001127841, RefSeq Protein:NP_006300, RefSeq Protein:NP_060194, RefSeq RNA:NM_001134369, RefSeq RNA:NM_006309, RefSeq RNA:NM_017724, UCSC Genome Browser:NM_006309, UniProtKB:A8K649, UniProtKB:Q9Y608 No chr3 37094117 37217992 37052626 37176817 +PA134962087 84125 HGNC:25708 ENSG00000133640 leucine rich repeats and IQ motif containing 1 LRRIQ1 leucine-rich repeats and IQ motif containing 1 FLJ12303, KIAA1801 Yes No Ensembl:ENSG00000133640, GeneCard:LRRIQ1, HGNC:HGNC:25708, HumanCyc Gene:HS13488, ModBase:Q96JM4, NCBI Gene:84125, RefSeq DNA:NT_029419, RefSeq Protein:NP_001073379, RefSeq Protein:NP_115541, RefSeq RNA:NM_001079910, RefSeq RNA:NM_032165, UniProtKB:Q96JM4 No chr12 85430099 85658235 85036321 85273004 +PA162394627 127255 HGNC:28318 ENSG00000162620 leucine rich repeats and IQ motif containing 3 LRRIQ3 leucine-rich repeats and IQ motif containing 3 LRRC44, MGC22773 Yes No Ensembl:ENSG00000162620, GeneCard:LRRIQ3, HGNC:HGNC:28318, HumanCyc Gene:HS14941, ModBase:A6PVS8, NCBI Gene:127255, RefSeq DNA:NT_032977, RefSeq Protein:NP_001099129, RefSeq RNA:NM_001105659, UniProtKB:A6PVS8 No chr1 74491699 74663871 74026015 74198201 +PA162394647 344657 HGNC:34298 ENSG00000188306 leucine rich repeats and IQ motif containing 4 LRRIQ4 leucine rich repeat containing 64, leucine-rich repeats and IQ motif containing 4 LRRC64 Yes No Ensembl:ENSG00000188306, GeneCard:LRRIQ4, HGNC:HGNC:34298, ModBase:A6NIV6, NCBI Gene:344657, RefSeq DNA:NT_005612, RefSeq Protein:NP_001073929, RefSeq RNA:NM_001080460, UniProtKB:A6NIV6 No chr3 169530658 169555561 169812947 169838007 +PA134892363 79705 HGNC:18608 ENSG00000154237 leucine rich repeat kinase 1 LRRK1 leucine-rich repeat kinase 1 FLJ23119, KIAA1790, RIPK6, Roco1 Yes No Comparative Toxicogenomics Database:79705, Ensembl:ENSG00000154237, GeneCard:LRRK1, HGNC:HGNC:18608, HumanCyc Gene:HS07963, NCBI Gene:79705, OMIM:610986, RefSeq DNA:NT_010274, RefSeq Protein:NP_078928, RefSeq RNA:NM_024652, UniProtKB:Q38SD2 No chr15 101459460 101610317 100919017 101070837 +PA134968052 120892 HGNC:18618 ENSG00000188906 leucine rich repeat kinase 2 LRRK2 dardarin, leucine-rich repeat kinase 2 DKFZp434H2111, FLJ45829, PARK8, RIPK7, ROCO2 Yes No Comparative Toxicogenomics Database:120892, Ensembl:ENSG00000188906, GenAtlas:LRRK2, GeneCard:LRRK2, HGNC:HGNC:18618, HumanCyc Gene:HS11918, ModBase:Q5S007, NCBI Gene:120892, OMIM:607060, OMIM:609007, RefSeq DNA:NG_011709, RefSeq DNA:NT_029419, RefSeq Protein:NP_940980, RefSeq RNA:NM_198578, UniProtKB:Q17RV3, UniProtKB:Q5S007 No chr12 40618813 40763087 40224895 40369285 +PA134935557 57633 HGNC:20980 ENSG00000175928 leucine rich repeat neuronal 1 LRRN1 fibronectin type III, immunoglobulin and leucine rich repeat domains 3 FIGLER3 Yes No Ensembl:ENSG00000175928, GeneCard:LRRN1, HGNC:HGNC:20980, HumanCyc Gene:HS16548, ModBase:Q6UXK5, NCBI Gene:57633, RefSeq DNA:NT_022517, RefSeq Protein:NP_065924, RefSeq RNA:NM_020873, UniProtKB:Q6UXK5 No chr3 3841121 3889708 3799431 3849834 +PA162394661 10446 HGNC:16914 ENSG00000170382 leucine rich repeat neuronal 2 LRRN2 """fibronectin type III, immunoglobulin and leucine rich repeat domain 7"", ""leucine rich and ankyrin repeats 1""" FIGLER7, GAC1, LRANK1, LRRN5 Yes No Ensembl:ENSG00000170382, GeneCard:LRRN2, HGNC:HGNC:16914, HumanCyc Gene:HS10119, ModBase:O75325, NCBI Gene:10446, OMIM:605492, RefSeq DNA:NT_004487, RefSeq Protein:NP_006329, RefSeq Protein:NP_963924, RefSeq RNA:NM_006338, RefSeq RNA:NM_201630, UniProtKB:O75325 No chr1 204586298 204654597 204617170 204685836 +PA30468 54674 HGNC:17200 ENSG00000173114 leucine rich repeat neuronal 3 LRRN3 fibronectin type III, immunoglobulin and leucine rich repeat domains 5 FIGLER5, FLJ11129, NLRR3 Yes No Comparative Toxicogenomics Database:54674, Ensembl:ENSG00000173114, GenAtlas:LRRN3, GeneCard:LRRN3, HGNC:HGNC:17200, HumanCyc Gene:HS16173, ModBase:Q9H3W5, NCBI Gene:54674, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001093128, RefSeq Protein:NP_001093130, RefSeq Protein:NP_060804, RefSeq RNA:NM_001099658, RefSeq RNA:NM_001099660, RefSeq RNA:NM_018334, UCSC Genome Browser:NM_018334, UniProtKB:A4D0T1, UniProtKB:Q9H3W5, UniProtKB:Q9NUU4 No chr7 110731062 110765510 111091006 111125454 +PA162394670 164312 HGNC:16208 ENSG00000125872 leucine rich repeat neuronal 4 LRRN4 C20orf75, NLRR4, dJ1056H1.1 Yes No Ensembl:ENSG00000125872, GeneCard:LRRN4, HGNC:HGNC:16208, HumanCyc Gene:HS13182, ModBase:Q8WUT4, NCBI Gene:164312, RefSeq DNA:NT_011387, RefSeq Protein:NP_689824, RefSeq RNA:NM_152611, UniProtKB:Q8WUT4 No chr20 6021192 6034726 6040546 6054080 +PA162394685 221091 HGNC:33724 ENSG00000177363 LRRN4 C-terminal like LRRN4CL Yes No Ensembl:ENSG00000177363, GeneCard:LRRN4CL, HGNC:HGNC:33724, ModBase:Q8ND94, NCBI Gene:221091, RefSeq DNA:NT_167190, RefSeq Protein:NP_981967, RefSeq RNA:NM_203422, UniProtKB:Q8ND94 No chr11 62453874 62457371 62686402 62689899 +PA134887293 347730 HGNC:19408 ENSG00000162951 leucine rich repeat transmembrane neuronal 1 LRRTM1 FLJ32082 Yes No Ensembl:ENSG00000162951, GeneCard:LRRTM1, HGNC:HGNC:19408, ModBase:Q86UE6, NCBI Gene:347730, OMIM:610867, RefSeq DNA:NT_022184, RefSeq Protein:NP_849161, RefSeq RNA:NM_178839, UniProtKB:Q86UE6 No chr2 80515481 80531718 80301878 80304738 +PA134993038 26045 HGNC:19409 ENSG00000146006 leucine rich repeat transmembrane neuronal 2 LRRTM2 KIAA0416 Yes No Ensembl:ENSG00000146006, GeneCard:LRRTM2, HGNC:HGNC:19409, HumanCyc Gene:HS14127, ModBase:O43300, NCBI Gene:26045, OMIM:610868, RefSeq DNA:NT_034772, RefSeq Protein:NP_056379, RefSeq RNA:NM_015564, UniProtKB:O43300 No chr5 138205079 138211057 138869390 138875368 +PA134962991 347731 HGNC:19410 ENSG00000198739 leucine rich repeat transmembrane neuronal 3 LRRTM3 Yes Yes Ensembl:ENSG00000198739, GeneCard:LRRTM3, HGNC:HGNC:19410, ModBase:Q86VH5, NCBI Gene:347731, OMIM:610869, RefSeq DNA:NT_030059, RefSeq Protein:NP_821079, RefSeq RNA:NM_178011, UniProtKB:Q86VH5 No chr10 68685792 68861309 66926034 67101551 +PA134972631 80059 HGNC:19411 ENSG00000176204 leucine rich repeat transmembrane neuronal 4 LRRTM4 FLJ12568 Yes No Ensembl:ENSG00000176204, GeneCard:LRRTM4, HGNC:HGNC:19411, HumanCyc Gene:HS16609, ModBase:Q86VH4, NCBI Gene:80059, OMIM:610870, RefSeq DNA:NT_022184, RefSeq Protein:NP_001128217, RefSeq Protein:NP_079269, RefSeq RNA:NM_001134745, RefSeq RNA:NM_024993, UniProtKB:B3KV11, UniProtKB:Q6ZT31, UniProtKB:Q86VH4, UniProtKB:Q9H9T0 No chr2 76974849 77749502 76747723 77522433 +PA134890010 90678 HGNC:25135 ENSG00000148356 leucine rich repeat and sterile alpha motif containing 1 LRSAM1 E3 ubiquitin-protein ligase LRSAM1, RING finger leucine repeat rich, TSG 101-associated ligase CMT2P, FLJ31641, RIFLE, TAL Yes No Ensembl:ENSG00000148356, GeneCard:LRSAM1, HGNC:HGNC:25135, HumanCyc Gene:HS07520, ModBase:Q6UWE0, NCBI Gene:90678, OMIM:610933, RefSeq DNA:NT_008470, RefSeq Protein:NP_001005373, RefSeq Protein:NP_001005374, RefSeq Protein:NP_001177652, RefSeq Protein:NP_612370, RefSeq RNA:NM_001005373, RefSeq RNA:NM_001005374, RefSeq RNA:NM_001190723, RefSeq RNA:NM_138361, UniProtKB:Q6UWE0 No chr9 130213765 130265780 127451486 127503501 +PA142671499 57408 HGNC:25023 ENSG00000144771 leucine rich repeats and transmembrane domains 1 LRTM1 leucine-rich repeats and transmembrane domains 1 HT017 Yes No Comparative Toxicogenomics Database:57408, Ensembl:ENSG00000144771, GeneCard:LRTM1, HGNC:HGNC:25023, HumanCyc Gene:HS14049, ModBase:Q9HBL6, NCBI Gene:57408, RefSeq DNA:NT_022517, RefSeq Protein:NP_065729, RefSeq RNA:NM_020678, UniProtKB:Q9HBL6 No chr3 54952264 55001115 54918333 54967088 +PA142671500 654429 HGNC:32443 ENSG00000166159 leucine rich repeats and transmembrane domains 2 LRTM2 leucine-rich repeats and transmembrane domains 2 Yes No Ensembl:ENSG00000166159, GeneCard:LRTM2, HGNC:HGNC:32443, ModBase:Q8N967, NCBI Gene:654429, RefSeq DNA:NT_009759, RefSeq Protein:NP_001034118, RefSeq Protein:NP_001157397, RefSeq Protein:NP_001157398, RefSeq RNA:NM_001039029, RefSeq RNA:NM_001163925, RefSeq RNA:NM_001163926, UniProtKB:A7E2U6, UniProtKB:Q8N967 No chr12 1929433 1945919 1820267 1836753 +PA164722133 220074 HGNC:25033 ENSG00000184154, ENSG00000241994 leucine rich transmembrane and O-methyltransferase domain containing LRTOMT leucine rich transmembrane and 0-methyltransferase domain containing CFAP111, COMT2, DFNB63, LRRC51 Yes No Comparative Toxicogenomics Database:220074, Ensembl:ENSG00000184154, Ensembl:ENSG00000241994, GeneCard:LRTOMT, HGNC:HGNC:25033, HumanCyc Gene:HS14722, NCBI Gene:220074, OMIM:611451, OMIM:612414, RefSeq DNA:NG_021423, RefSeq DNA:NT_033927, RefSeq DNA:NT_167190, RefSeq Protein:NP_001138779, RefSeq Protein:NP_001138780, RefSeq Protein:NP_001138781, RefSeq Protein:NP_001138782, RefSeq Protein:NP_001192067, RefSeq Protein:NP_660352, RefSeq RNA:NM_001145307, RefSeq RNA:NM_001145308, RefSeq RNA:NM_001145309, RefSeq RNA:NM_001145310, RefSeq RNA:NM_001205138, RefSeq RNA:NM_145309, RefSeq RNA:NR_026886, UniProtKB:B9ZVN6, UniProtKB:Q8WZ04, UniProtKB:Q96E66 No chr11 71791377 71821828 72079982 72110782 +PA162394694 222229 HGNC:21769 ENSG00000161036 leucine rich repeats and WD repeat domain containing 1 LRWD1 centromere protein 33, leucine-rich repeats and WD repeat domain containing 1, origin recognition complex associated CENP-33, DKFZp434K1815, ORCA Yes No Ensembl:ENSG00000161036, GeneCard:LRWD1, HGNC:HGNC:21769, HumanCyc Gene:HS14846, ModBase:Q9UFC0, NCBI Gene:222229, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_690852, RefSeq RNA:NM_152892, UniProtKB:Q9UFC0 No chr7 102105335 102113615 102464883 102473168 +PA30470 4045 HGNC:6705 ENSG00000185565 limbic system associated membrane protein LSAMP IgLON family member 3, limbic system-associated membrane protein IGLON3, LAMP Yes No Comparative Toxicogenomics Database:4045, Ensembl:ENSG00000185565, GenAtlas:LSAMP, GeneCard:LSAMP, HGNC:HGNC:6705, ModBase:Q13449, NCBI Gene:4045, OMIM:603241, RefSeq DNA:NT_005612, RefSeq Protein:NP_002329, RefSeq RNA:NM_002338, UCSC Genome Browser:NM_002338, UniProtKB:Q13449 No chr3 115521210 116164385 115802363 116445542 +PA142671501 55341 HGNC:25652 ENSG00000041802 large 60S subunit nuclear export GTPase 1 LSG1 large subunit GTPase 1 homolog (S. cerevisiae) FLJ11301 Yes No Comparative Toxicogenomics Database:55341, Ensembl:ENSG00000041802, GeneCard:LSG1, HGNC:HGNC:25652, HumanCyc Gene:HS12094, ModBase:Q9H089, NCBI Gene:55341, OMIM:610780, RefSeq DNA:NT_029928, RefSeq Protein:NP_060855, RefSeq RNA:NM_018385, UniProtKB:Q9H089 No chr3 194361517 194393206 194640788 194672477 +PA134864226 27257 HGNC:20472 ENSG00000175324 LSM1 homolog, mRNA degradation associated LSM1 """LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"", ""LSM1, U6 small nuclear RNA associated"", ""cancer-associated Sm protein""" CASM, YJL124C Yes No Comparative Toxicogenomics Database:27257, Ensembl:ENSG00000175324, GeneCard:LSM1, HGNC:HGNC:20472, HumanCyc Gene:HS10912, ModBase:O15116, NCBI Gene:27257, OMIM:607281, RefSeq DNA:NT_167187, RefSeq Protein:NP_055277, RefSeq RNA:NM_014462, UniProtKB:O15116 No chr8 38020839 38034248 38163321 38176730 +PA134977215 84967 HGNC:17562 ENSG00000181817 LSM10, U7 small nuclear RNA associated LSM10 MGC15749 Yes No Comparative Toxicogenomics Database:84967, Ensembl:ENSG00000181817, GeneCard:LSM10, HGNC:HGNC:17562, HumanCyc Gene:HS11668, ModBase:Q969L4, NCBI Gene:84967, RefSeq DNA:NT_032977, RefSeq Protein:NP_116270, RefSeq RNA:NM_032881, UniProtKB:Q969L4 No chr1 36859031 36863493 36393420 36397959 +PA134983181 134353 HGNC:30860 ENSG00000155858 LSM11, U7 small nuclear RNA associated LSM11 FLJ38273 Yes No Ensembl:ENSG00000155858, GeneCard:LSM11, HGNC:HGNC:30860, HumanCyc Gene:HS08073, ModBase:P83369, NCBI Gene:134353, RefSeq DNA:NT_023133, RefSeq Protein:NP_775762, RefSeq RNA:NM_173491, UniProtKB:P83369 No chr5 157170755 157183746 157743695 157760709 +PA142671502 124801 HGNC:26407 ENSG00000161654 LSM12 homolog LSM12 LSM12 homolog (S. cerevisiae) FLJ30656 Yes No Ensembl:ENSG00000161654, GeneCard:LSM12, HGNC:HGNC:26407, HumanCyc Gene:HS14872, ModBase:Q3MHD2, NCBI Gene:124801, OMIM:611793, RefSeq DNA:NT_010783, RefSeq Protein:NP_689557, RefSeq RNA:NM_152344, UniProtKB:Q3MHD2 No chr17 42112003 42144987 44034635 44067619 +PA134989467 26065 HGNC:24489 ENSG00000105216, ENSG00000257103 LSM14A mRNA processing body assembly factor LSM14A """LSM14A, SCD6 homolog A (S. cerevisiae)"", ""LSM14A, mRNA processing body assembly factor"", ""RNA-associated protein 55""" C19orf13, DKFZP434D1335, FAM61A, RAP55, RAP55A Yes No Ensembl:ENSG00000105216, Ensembl:ENSG00000257103, GeneCard:LSM14A, HGNC:HGNC:24489, HumanCyc Gene:HS12578, ModBase:Q8ND56, NCBI Gene:26065, OMIM:610677, RefSeq DNA:NT_011109, RefSeq Protein:NP_001107565, RefSeq Protein:NP_056393, RefSeq RNA:NM_001114093, RefSeq RNA:NM_015578, UniProtKB:Q8ND56 No chr19 34663352 34720420 34172428 34229515 +PA25754 149986 HGNC:15887 ENSG00000149657 LSM family member 14B LSM14B LSM14B, SCD6 homolog B (S. cerevisiae) C20orf40, FAM61B, FLJ25473, FT005, LSM13, RAP55B, bA11M20.3 Yes No Ensembl:ENSG00000149657, GenAtlas:LSM14B, GeneCard:LSM14B, HGNC:HGNC:15887, HumanCyc Gene:HS14303, ModBase:Q9BX40, NCBI Gene:149986, RefSeq DNA:NT_011362, RefSeq Protein:NP_653304, RefSeq RNA:NM_144703, UCSC Genome Browser:NM_014054, UCSC Genome Browser:NM_144703, UniProtKB:Q9BX40 No chr20 60697517 60710434 62122454 62135378 +PA25929 57819 HGNC:13940 ENSG00000172850, ENSG00000204392, ENSG00000224979, ENSG00000225998, ENSG00000231502, ENSG00000236826 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) C6orf28, G7b, YBL026W Yes Yes Comparative Toxicogenomics Database:57819, Ensembl:ENSG00000172850, Ensembl:ENSG00000204392, Ensembl:ENSG00000224979, Ensembl:ENSG00000225998, Ensembl:ENSG00000231502, Ensembl:ENSG00000236826, GeneCard:LSM2, HGNC:HGNC:13940, HumanCyc Gene:HS03496, ModBase:Q9Y333, NCBI Gene:57819, OMIM:607282, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_067000, RefSeq RNA:NM_021177, UCSC Genome Browser:NM_021177, UniProtKB:Q6FGG1, UniProtKB:Q9Y333 No chr6 31765169 31774761 31797392 31806984 +PA134881991 27258 HGNC:17874 ENSG00000170860 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated LSM3 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) SMX4, USS2, YLR438C Yes No Comparative Toxicogenomics Database:27258, Ensembl:ENSG00000170860, GeneCard:LSM3, HGNC:HGNC:17874, HumanCyc Gene:HS10195, ModBase:P62310, NCBI Gene:27258, OMIM:607283, RefSeq DNA:NT_022517, RefSeq Protein:NP_055278, RefSeq RNA:NM_014463, UniProtKB:P62310 No chr3 14220228 14239869 14178728 14198369 +PA134906569 25804 HGNC:17259 ENSG00000130520 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated LSM4 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) YER112W Yes No Comparative Toxicogenomics Database:25804, Ensembl:ENSG00000130520, GeneCard:LSM4, HGNC:HGNC:17259, HumanCyc Gene:HS05396, ModBase:Q9Y4Z0, NCBI Gene:25804, OMIM:607284, RefSeq DNA:NT_011295, RefSeq Protein:NP_036453, RefSeq RNA:NM_012321, UniProtKB:Q9Y4Z0 No chr19 18417040 18434001 18306230 18323191 +PA134881171 23658 HGNC:17162 ENSG00000106355 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated LSM5 LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) YER146W Yes No Comparative Toxicogenomics Database:23658, Ensembl:ENSG00000106355, GeneCard:LSM5, HGNC:HGNC:17162, HumanCyc Gene:HS02898, ModBase:Q9Y4Y9, NCBI Gene:23658, OMIM:607285, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001124182, RefSeq Protein:NP_001132971, RefSeq Protein:NP_036454, RefSeq RNA:NM_001130710, RefSeq RNA:NM_001139499, RefSeq RNA:NM_012322, RefSeq RNA:NR_024466, UniProtKB:Q9Y4Y9 No chr7 32524945 32534870 32485333 32495258 +PA128394584 11157 HGNC:17017 ENSG00000164167 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated LSM6 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) YDR378C Yes No Comparative Toxicogenomics Database:11157, Ensembl:ENSG00000164167, GeneCard:LSM6, HGNC:HGNC:17017, HumanCyc Gene:HS09031, ModBase:P62312, NCBI Gene:11157, OMIM:607286, RefSeq DNA:NT_016354, RefSeq Protein:NP_009011, RefSeq RNA:NM_007080, UCSC Genome Browser:NM_007080, UniProtKB:P62312, UniProtKB:Q4W5J5 No chr4 147096835 147111213 146175683 146204436 +PA134888612 51690 HGNC:20470 ENSG00000130332 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated LSM7 LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) YNL147W Yes No Comparative Toxicogenomics Database:51690, Ensembl:ENSG00000130332, GeneCard:LSM7, HGNC:HGNC:20470, HumanCyc Gene:HS05371, ModBase:Q9UK45, NCBI Gene:51690, OMIM:607287, RefSeq DNA:NT_011255, RefSeq Protein:NP_057283, RefSeq RNA:NM_016199, UniProtKB:Q9UK45 No chr19 2321520 2328614 2321521 2328615 +PA165618166 51691 HGNC:20471 ENSG00000128534 LSM8 homolog, U6 small nuclear RNA associated LSM8 """LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae)"", ""N(alpha)-acetyltransferase 38, NatC auxiliary subunit""" YJR022W Yes No Comparative Toxicogenomics Database:51691, Ensembl:ENSG00000128534, GeneCard:NAA38, HGNC:HGNC:20471, HumanCyc Gene:HS05193, ModBase:O95777, NCBI Gene:51691, OMIM:607288, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_057284, RefSeq RNA:NM_016200, UniProtKB:A4D0W0, UniProtKB:O95777 No chr7 117824086 117844093 118184032 118204039 +PA162380593 286006 HGNC:22036 ENSG00000181016 leucine rich single-pass membrane protein 1 LSMEM1 leucine-rich single-pass membrane protein 1 C7orf53, FLJ39575 Yes No Ensembl:ENSG00000181016, GeneCard:C7orf53, HGNC:HGNC:22036, ModBase:Q8N8F7, NCBI Gene:286006, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001127940, RefSeq Protein:NP_872403, RefSeq RNA:NM_001134468, RefSeq RNA:NM_182597, UniProtKB:Q8N8F7 No chr7 112120908 112130943 112480219 112491062 +PA143485322 132228 HGNC:26781 ENSG00000179564 leucine rich single-pass membrane protein 2 LSMEM2 leucine-rich single-pass membrane protein 2 C3orf45, FLJ38608 Yes No Ensembl:ENSG00000179564, GeneCard:C3orf45, HGNC:HGNC:26781, HumanCyc Gene:HS17307, ModBase:Q8N112, NCBI Gene:132228, RefSeq DNA:NT_022517, RefSeq Protein:NP_694947, RefSeq RNA:NM_153215, UniProtKB:Q8N112 No chr3 50316458 50325545 50277907 50288114 +PA30472 4046 HGNC:6707 ENSG00000130592 lymphocyte specific protein 1 LSP1 lymphocyte-specific protein 1 WP34 Yes No Comparative Toxicogenomics Database:4046, Ensembl:ENSG00000130592, GenAtlas:LSP1, GeneCard:LSP1, HGNC:HGNC:6707, HumanCyc Gene:HS05406, ModBase:P33241, NCBI Gene:4046, OMIM:153432, RefSeq DNA:NG_011509, RefSeq DNA:NT_009237, RefSeq Protein:NP_001013271, RefSeq Protein:NP_001013272, RefSeq Protein:NP_001013273, RefSeq Protein:NP_002330, RefSeq RNA:NM_001013253, RefSeq RNA:NM_001013254, RefSeq RNA:NM_001013255, RefSeq RNA:NM_002339, UCSC Genome Browser:NM_002339, UniProtKB:B3KPP1, UniProtKB:P33241 No chr11 1874200 1913493 1852970 1892263 +PA142671504 51599 HGNC:29572 ENSG00000105699 lipolysis stimulated lipoprotein receptor LSR angulin-1, immunoglobulin-like domain containing receptor 3, lipolysis-stimulated remnant ILDR3, LISCH7 Yes No Comparative Toxicogenomics Database:51599, Ensembl:ENSG00000105699, GeneCard:LSR, HGNC:HGNC:29572, HumanCyc Gene:HS02798, ModBase:Q86X29, NCBI Gene:51599, RefSeq DNA:NT_011109, RefSeq Protein:NP_057009, RefSeq Protein:NP_991403, RefSeq Protein:NP_991404, RefSeq RNA:NM_015925, RefSeq RNA:NM_205834, RefSeq RNA:NM_205835, UniProtKB:A6NDW3, UniProtKB:Q86X29, UniProtKB:Q9BT33, UniProtKB:Q9BWS2 No chr19 35739290 35758867 35248656 35267964 +PA30473 4047 HGNC:6708 ENSG00000160285 lanosterol synthase LSS """Oxidosqualene-lanosterol cyclase"", ""lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)""" OSC Yes No Comparative Toxicogenomics Database:4047, Ensembl:ENSG00000160285, GenAtlas:LSS, GeneCard:LSS, HGNC:HGNC:6708, HumanCyc Gene:HS08480, ModBase:P48449, NCBI Gene:4047, OMIM:600909, RefSeq DNA:NG_011510, RefSeq DNA:NT_011515, RefSeq Protein:NP_001001438, RefSeq Protein:NP_001138908, RefSeq Protein:NP_001138909, RefSeq Protein:NP_002331, RefSeq RNA:NM_001001438, RefSeq RNA:NM_001145436, RefSeq RNA:NM_001145437, RefSeq RNA:NM_002340, UCSC Genome Browser:NM_002340, UniProtKB:B2R694, UniProtKB:B4DJZ9, UniProtKB:P48449 No chr21 47608360 47648738 46188446 46228824 +PA37856 7940 HGNC:14189 ENSG00000204482, ENSG00000206433, ENSG00000223465, ENSG00000226182, ENSG00000230791, ENSG00000231048, ENSG00000234514, ENSG00000235915 leukocyte specific transcript 1 LST1 B144, D6S49E, LST-1 Yes Yes Comparative Toxicogenomics Database:7940, Ensembl:ENSG00000204482, Ensembl:ENSG00000206433, Ensembl:ENSG00000223465, Ensembl:ENSG00000226182, Ensembl:ENSG00000230791, Ensembl:ENSG00000231048, Ensembl:ENSG00000234514, Ensembl:ENSG00000235915, GenAtlas:LST1, GeneCard:LST1, HGNC:HGNC:14189, HumanCyc Gene:HS01856, NCBI Gene:7940, OMIM:109170, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001160010, RefSeq Protein:NP_009092, RefSeq Protein:NP_995309, RefSeq Protein:NP_995310, RefSeq Protein:NP_995311, RefSeq Protein:NP_995312, RefSeq RNA:NM_001166538, RefSeq RNA:NM_007161, RefSeq RNA:NM_205837, RefSeq RNA:NM_205838, RefSeq RNA:NM_205839, RefSeq RNA:NM_205840, RefSeq RNA:NR_029461, RefSeq RNA:NR_029462, UCSC Genome Browser:NM_007161, UniProtKB:O00453, UniProtKB:Q2HNT3, UniProtKB:Q5SP24, UniProtKB:Q5STA5, UniProtKB:Q5STA6, UniProtKB:Q5STA8 No chr6 31553956 31556686 31586179 31588909 +PA30474 4049 HGNC:6709 ENSG00000226979, ENSG00000230279, ENSG00000231408 lymphotoxin alpha LTA """TNF superfamily member 1"", ""lymphotoxin alpha (TNF superfamily, member 1)""" LT, TNFB, TNFSF1 Yes Yes Comparative Toxicogenomics Database:4049, Ensembl:ENSG00000226979, Ensembl:ENSG00000230279, Ensembl:ENSG00000231408, GenAtlas:LTA, GeneCard:LTA, HGNC:HGNC:6709, HumanCyc Gene:HS10676, ModBase:P01374, NCBI Gene:4049, OMIM:153440, OMIM:607507, OMIM:610988, RefSeq DNA:NG_012010, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_000586, RefSeq Protein:NP_001153212, RefSeq RNA:NM_000595, RefSeq RNA:NM_001159740, UCSC Genome Browser:NM_000595, UniProtKB:P01374, UniProtKB:Q5STV3 No chr6 31539876 31542101 31560550 31574324 +PA24345 4048 HGNC:6710 ENSG00000111144 leukotriene A4 hydrolase LTA4H Yes Yes Comparative Toxicogenomics Database:4048, Ensembl:ENSG00000111144, GenAtlas:LTA4H, GeneCard:LTA4H, HGNC:HGNC:6710, HumanCyc Gene:HS03372, NCBI Gene:4048, OMIM:151570, RefSeq DNA:NT_029419, RefSeq Protein:NP_000886, RefSeq RNA:NM_000895, UCSC Genome Browser:NM_000895, UniProtKB:P09960 No chr12 96394531 96437298 96000753 96043520 +PA30475 4050 HGNC:6711 ENSG00000204487, ENSG00000206437, ENSG00000223448, ENSG00000227507, ENSG00000231314, ENSG00000236237, ENSG00000236925, ENSG00000238114 lymphotoxin beta LTB """TNF superfamily member 3"", ""lymphotoxin beta (TNF superfamily, member 3)""" TNFC, TNFSF3, p33 Yes Yes Comparative Toxicogenomics Database:4050, Ensembl:ENSG00000204487, Ensembl:ENSG00000206437, Ensembl:ENSG00000223448, Ensembl:ENSG00000227507, Ensembl:ENSG00000231314, Ensembl:ENSG00000236237, Ensembl:ENSG00000236925, Ensembl:ENSG00000238114, GenAtlas:LTB, GeneCard:LTB, HGNC:HGNC:6711, HumanCyc Gene:HS01854, ModBase:Q06643, NCBI Gene:4050, OMIM:600978, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002332, RefSeq Protein:NP_033666, RefSeq RNA:NM_002341, RefSeq RNA:NM_009588, UCSC Genome Browser:NM_002341, UniProtKB:Q06643, UniProtKB:Q52LU8, UniProtKB:Q5STB2 No chr6 31548335 31550202 31580558 31582425 +PA30476 1241 HGNC:6713 ENSG00000213903 leukotriene B4 receptor LTB4R BLTR, CMKRL1, GPR16, LTB4R1, P2RY7, P2Y7 Yes No Comparative Toxicogenomics Database:1241, Ensembl:ENSG00000213903, GenAtlas:LTB4R, GeneCard:LTB4R, HGNC:HGNC:6713, IUPHAR Receptor:267, ModBase:Q15722, NCBI Gene:1241, OMIM:601531, RefSeq DNA:NT_026437, RefSeq Protein:NP_001137391, RefSeq Protein:NP_858043, RefSeq RNA:NM_001143919, RefSeq RNA:NM_181657, UCSC Genome Browser:NM_000752, UCSC Genome Browser:NM_181657, UniProtKB:Q15722 No chr14 24780705 24787242 24311499 24318036 +PA134910672 56413 HGNC:19260 ENSG00000213906 leukotriene B4 receptor 2 LTB4R2 BLT2, BLTR2, JULF2, NOP9 Yes No Ensembl:ENSG00000213906, GeneCard:LTB4R2, HGNC:HGNC:19260, IUPHAR Receptor:268, ModBase:Q9NPC1, NCBI Gene:56413, OMIM:605773, RefSeq DNA:NT_026437, RefSeq Protein:NP_001158164, RefSeq Protein:NP_062813, RefSeq RNA:NM_001164692, RefSeq RNA:NM_019839, UniProtKB:B4E292, UniProtKB:Q5KU28, UniProtKB:Q9NPC1 No chr14 24779357 24781259 24310151 24312053 +PA30477 4052 HGNC:6714 ENSG00000049323 latent transforming growth factor beta binding protein 1 LTBP1 TGF-beta1-BP-1, Transforming growth factor beta-1-binding protein 1 Yes No Comparative Toxicogenomics Database:4052, Ensembl:ENSG00000049323, GenAtlas:LTBP1, GeneCard:LTBP1, HGNC:HGNC:6714, HumanCyc Gene:HS00620, ModBase:P22064, ModBase:Q14766, NCBI Gene:4052, OMIM:150390, RefSeq DNA:NT_022184, RefSeq Protein:NP_000618, RefSeq Protein:NP_001159736, RefSeq Protein:NP_001159737, RefSeq Protein:NP_001159738, RefSeq Protein:NP_996826, RefSeq RNA:NM_000627, RefSeq RNA:NM_001166264, RefSeq RNA:NM_001166265, RefSeq RNA:NM_001166266, RefSeq RNA:NM_206943, UCSC Genome Browser:NM_000627, UniProtKB:Q14766 No chr2 33172221 33624576 32947129 33399509 +PA164741922 4053 HGNC:6715 ENSG00000119681 latent transforming growth factor beta binding protein 2 LTBP2 C14orf141, LTBP3 Yes No Ensembl:ENSG00000119681, GeneCard:LTBP2, HGNC:HGNC:6715, HumanCyc Gene:HS04319, ModBase:Q14767, NCBI Gene:4053, OMIM:602091, OMIM:613086, RefSeq DNA:NG_021486, RefSeq DNA:NT_026437, RefSeq Protein:NP_000419, RefSeq RNA:NM_000428, UniProtKB:Q14767 No chr14 74964886 75079034 74498183 74612331 +PA30479 4054 HGNC:6716 ENSG00000168056 latent transforming growth factor beta binding protein 3 LTBP3 LTBP2 Yes No Comparative Toxicogenomics Database:4054, Ensembl:ENSG00000168056, GenAtlas:LTBP3, GeneCard:LTBP3, HGNC:HGNC:6716, HumanCyc Gene:HS09685, ModBase:Q9NS15, NCBI Gene:4054, OMIM:602090, OMIM:613097, RefSeq DNA:NG_016437, RefSeq DNA:NT_167190, RefSeq Protein:NP_001123616, RefSeq Protein:NP_001157738, RefSeq Protein:NP_066548, RefSeq RNA:NM_001130144, RefSeq RNA:NM_001164266, RefSeq RNA:NM_021070, UCSC Genome Browser:NM_021070, UniProtKB:B9EG76, UniProtKB:Q8WYU6, UniProtKB:Q9NS15 No chr11 65306030 65325858 65538559 65558388 +PA30480 8425 HGNC:6717 ENSG00000090006 latent transforming growth factor beta binding protein 4 LTBP4 FLJ46318, FLJ90018, LTBP-4, LTBP-4L Yes No Comparative Toxicogenomics Database:8425, Ensembl:ENSG00000090006, GenAtlas:LTBP4, GeneCard:LTBP4, HGNC:HGNC:6717, HumanCyc Gene:HS01669, ModBase:Q8N2S1, NCBI Gene:8425, OMIM:604710, OMIM:613177, RefSeq DNA:NG_021201, RefSeq DNA:NT_011109, RefSeq Protein:NP_001036009, RefSeq Protein:NP_001036010, RefSeq Protein:NP_003564, RefSeq RNA:NM_001042544, RefSeq RNA:NM_001042545, RefSeq RNA:NM_003573, UCSC Genome Browser:NM_003573, UniProtKB:B3KXY6, UniProtKB:Q8N2S1 No chr19 41099072 41135725 40592888 40629820 +PA30481 4055 HGNC:6718 ENSG00000111321 lymphotoxin beta receptor LTBR """TNFR superfamily, member 3"", ""lymphotoxin beta receptor (TNFR superfamily, member 3)""" D12S370, TNF-R-III, TNFCR, TNFR-RP, TNFR2-RP, TNFRSF3 Yes No Comparative Toxicogenomics Database:4055, Ensembl:ENSG00000111321, GenAtlas:LTBR, GeneCard:LTBR, HGNC:HGNC:6718, HumanCyc Gene:HS03399, ModBase:P36941, NCBI Gene:4055, OMIM:600979, RefSeq DNA:NT_009759, RefSeq Protein:NP_002333, RefSeq RNA:NM_002342, UCSC Genome Browser:NM_002342, UniProtKB:P36941 No chr12 6484534 6500737 6375368 6391571 +PA235 4056 HGNC:6719 ENSG00000213316 leukotriene C4 synthase LTC4S MGC33147 Yes Yes Comparative Toxicogenomics Database:4056, Ensembl:ENSG00000213316, GenAtlas:LTC4S, GeneCard:LTC4S, HGNC:HGNC:6719, HumanCyc Gene:HS08566, ModBase:Q16873, NCBI Gene:4056, OMIM:246530, RefSeq DNA:NT_023133, RefSeq Protein:NP_665874, RefSeq RNA:NM_145867, UCSC Genome Browser:NM_000897, UniProtKB:Q16873 No chr5 179219263 179223616 179793985 179796512 +PA30482 4057 HGNC:6720 ENSG00000012223 lactotransferrin LTF HLF2 Yes No Comparative Toxicogenomics Database:4057, Ensembl:ENSG00000012223, GenAtlas:LTF, GeneCard:LTF, HGNC:HGNC:6720, HumanCyc Gene:HS00332, ModBase:Q8TCD2, NCBI Gene:4057, OMIM:150210, RefSeq DNA:NG_023257, RefSeq DNA:NT_022517, RefSeq Protein:NP_001186078, RefSeq Protein:NP_002334, RefSeq RNA:NM_001199149, RefSeq RNA:NM_002343, UCSC Genome Browser:NM_002343, UniProtKB:P02788 No chr3 46477496 46506598 46436005 46485234 +PA30483 4058 HGNC:6721 ENSG00000062524 leukocyte receptor tyrosine kinase LTK TYK1 Yes No Ensembl:ENSG00000062524, GenAtlas:LTK, GeneCard:LTK, HGNC:HGNC:6721, HumanCyc Gene:HS00769, ModBase:P29376, NCBI Gene:4058, OMIM:151520, RefSeq DNA:NT_010194, RefSeq Protein:NP_001129157, RefSeq Protein:NP_002335, RefSeq Protein:NP_996844, RefSeq RNA:NM_001135685, RefSeq RNA:NM_002344, RefSeq RNA:NM_206961, UCSC Genome Browser:NM_002344, UniProtKB:B4DL89, UniProtKB:P29376 No chr15 41795840 41806085 41503639 41513887 +PA37658 26046 HGNC:13082 ENSG00000198862 listerin E3 ubiquitin protein ligase 1 LTN1 LISTERIN C21orf10, C21orf98, FLJ11053, KIAA0714, RNF160, ZNF294, listerin Yes No Ensembl:ENSG00000198862, GenAtlas:ZNF294, GeneCard:RNF160, GeneCard:ZNF294, HGNC:HGNC:13082, NCBI Gene:26046, OMIM:613083, RefSeq DNA:NT_011512, RefSeq Protein:NP_056380, RefSeq RNA:NM_015565, UCSC Genome Browser:NM_015565, UniProtKB:O94822 No chr21 30300466 30365277 28928144 28992959 +PA38242 220064 HGNC:17589 ENSG00000149716 LTO1 maturation factor of ABCE1 LTO1 """LTO1, ABCE1 maturation factor"", ""oral cancer overexpressed 1"", ""oral cancer overexpressed protein 1-A""" CIAB1, ORAOV1, TAOS1 Yes No Comparative Toxicogenomics Database:220064, Ensembl:ENSG00000149716, GenAtlas:ORAOV1, GeneCard:ORAOV1, HGNC:HGNC:17589, HumanCyc Gene:HS14305, NCBI Gene:220064, OMIM:607224, RefSeq DNA:NT_167190, RefSeq Protein:NP_703152, RefSeq RNA:NM_153451, UCSC Genome Browser:NM_153451, UniProtKB:Q8WV07 No chr11 69480331 69490165 69661350 69675397 +PA134893631 84946 HGNC:21173 ENSG00000135521 LTV1 ribosome biogenesis factor LTV1 LTV1 homolog (S. cerevisiae) C6orf93, FLJ14909, dJ468K18.4 Yes No Comparative Toxicogenomics Database:84946, Ensembl:ENSG00000135521, GeneCard:LTV1, HGNC:HGNC:21173, HumanCyc Gene:HS13583, ModBase:Q96GA3, NCBI Gene:84946, RefSeq DNA:NT_025741, RefSeq Protein:NP_116249, RefSeq RNA:NM_032860, UniProtKB:Q96GA3 No chr6 144164508 144184943 143843371 143863806 +PA30485 55692 HGNC:6723 ENSG00000007392 LUC7 like LUC7L LUC7-like (S. cerevisiae) LUC7B1, Luc7, hLuc7B1 Yes No Comparative Toxicogenomics Database:55692, Ensembl:ENSG00000007392, GenAtlas:LUC7L, GeneCard:LUC7L, HGNC:HGNC:6723, HumanCyc Gene:HS12024, ModBase:Q9NQ29, NCBI Gene:55692, OMIM:607782, RefSeq DNA:NT_010393, RefSeq Protein:NP_060502, RefSeq Protein:NP_958815, RefSeq RNA:NM_018032, RefSeq RNA:NM_201412, UCSC Genome Browser:NM_018032, UniProtKB:Q1W6G4, UniProtKB:Q9NQ29 No chr16 238970 279449 188969 229482 +PA134873425 51631 HGNC:21608 ENSG00000146963 LUC7 like 2, pre-mRNA splicing factor LUC7L2 CGI-74 protein, LUC7-like 2 (S. cerevisiae) CGI-59, CGI-74, FLJ10657, H_NH0792N18.3, LUC7B2, hLuc7B2 Yes Yes Ensembl:ENSG00000146963, GeneCard:LUC7L2, HGNC:HGNC:21608, HumanCyc Gene:HS14186, ModBase:Q9Y383, NCBI Gene:51631, OMIM:613056, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_057103, RefSeq RNA:NM_016019, UniProtKB:Q9Y383 No chr7 139025105 139108203 139340359 139423457 +PA165432062 51747 HGNC:24309 ENSG00000108848 LUC7 like 3 pre-mRNA splicing factor LUC7L3 CRE-associated protein, LUC7-like 3 (S. cerevisiae), cisplatin resistance associated overexpressed protein CRA, CREAP-1, CROP, FLJ11063, LUC7A, OA48-18, hLuc7A Yes No Ensembl:ENSG00000108848, GeneCard:LUC7L3, HGNC:HGNC:24309, HumanCyc Gene:HS03170, NCBI Gene:51747, OMIM:609434, RefSeq DNA:NT_010783, RefSeq Protein:NP_006098, RefSeq Protein:NP_057508, RefSeq RNA:NM_006107, RefSeq RNA:NM_016424, UniProtKB:A8K3C5, UniProtKB:O95232, UniProtKB:Q86Y74 No chr17 48796926 48830072 50719565 50754269 +PA30486 4060 HGNC:6724 ENSG00000139329 lumican LUM lumican proteoglycan LDC, SLRR2D Yes No Comparative Toxicogenomics Database:4060, Ensembl:ENSG00000139329, GenAtlas:LUM, GeneCard:LUM, HGNC:HGNC:6724, HumanCyc Gene:HS06608, ModBase:P51884, NCBI Gene:4060, OMIM:600616, RefSeq DNA:NT_029419, RefSeq Protein:NP_002336, RefSeq RNA:NM_002345, UCSC Genome Browser:NM_002345, UniProtKB:P51884 No chr12 91497232 91505542 91103455 91111765 +PA142672401 541468 HGNC:32327 ENSG00000171357 leucine rich adaptor protein 1 LURAP1 leucine repeat adaptor protein 35a C1orf190, FLJ25163, LRAP35a Yes No Ensembl:ENSG00000171357, GeneCard:LURAP1, HGNC:HGNC:32327, ModBase:Q96LR2, NCBI Gene:541468, RefSeq DNA:NT_032977, RefSeq Protein:NP_001013633, RefSeq RNA:NM_001013615, UniProtKB:Q96LR2 No chr1 46669006 46686928 46203334 46221256 +PA134938789 286343 HGNC:31452 ENSG00000153714 leucine rich adaptor protein 1 like LURAP1L """leucine rich adaptor protein 1-like"", ""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed""" C9orf150, FLJ38505, LRAP35b, MGC46502, bA3L8.2 Yes No Ensembl:ENSG00000153714, GeneCard:C9orf150, HGNC:HGNC:31452, NCBI Gene:286343, RefSeq DNA:NT_008413, RefSeq Protein:NP_981948, RefSeq RNA:NM_203403, UniProtKB:Q8IV03 No chr9 12774989 12823059 12774990 12823060 +PA30487 7798 HGNC:14985 ENSG00000169641 leucine zipper protein 1 LUZP1 LUZP Yes No Comparative Toxicogenomics Database:7798, Ensembl:ENSG00000169641, GenAtlas:LUZP1, GeneCard:LUZP1, HGNC:HGNC:14985, HumanCyc Gene:HS09982, ModBase:Q86V48, NCBI Gene:7798, OMIM:601422, RefSeq DNA:NT_004610, RefSeq Protein:NP_001136018, RefSeq Protein:NP_361013, RefSeq RNA:NM_001142546, RefSeq RNA:NM_033631, UCSC Genome Browser:NM_033631, UniProtKB:Q05DE3, UniProtKB:Q86V48 No chr1 23410516 23504301 23084017 23177808 +PA134956714 338645 HGNC:23206 ENSG00000187398 leucine zipper protein 2 LUZP2 Yes No Ensembl:ENSG00000187398, GeneCard:LUZP2, HGNC:HGNC:23206, ModBase:Q86TE4, NCBI Gene:338645, OMIM:608178, RefSeq DNA:NT_009237, RefSeq Protein:NP_001009909, RefSeq RNA:NM_001009909 No chr11 24518516 25104186 24494304 25082640 +PA134920076 51213 HGNC:24971 ENSG00000102021 leucine zipper protein 4 LUZP4 cancer/testis antigen 28 CT-8, CT28, HOM-TES-85 Yes No Ensembl:ENSG00000102021, GeneCard:LUZP4, HGNC:HGNC:24971, HumanCyc Gene:HS12474, ModBase:Q9P127, NCBI Gene:51213, OMIM:300616, RefSeq DNA:NG_021297, RefSeq DNA:NT_028405, RefSeq Protein:NP_057467, RefSeq RNA:NM_016383, UniProtKB:Q9P127 No chrX 114524292 114542121 115289717 115307556 +PA162394695 767558 HGNC:33955 leucine zipper protein 6 LUZP6 myotrophin 3'UTR transcript MPD6, MTPNUT Yes No GeneCard:LUZP6, HGNC:HGNC:33955, NCBI Gene:767558, OMIM:611050, RefSeq DNA:NG_008063, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001122091, RefSeq RNA:NM_001128619, UniProtKB:Q69YG1 No chr7 135611503 135662204 135926755 135977456 +PA166181553 206338 HGNC:26904 ENSG00000172901 laeverin LVRN aminopeptidase Q APQ, AQPEP, FLJ90650, TAQPEP Yes No Ensembl:ENSG00000172901, HGNC:HGNC:26904, NCBI Gene:206338 No 0 0 0 0 +PA134991999 56925 HGNC:13347 ENSG00000079257 latexin LXN Yes No Comparative Toxicogenomics Database:56925, Ensembl:ENSG00000079257, GeneCard:LXN, HGNC:HGNC:13347, HumanCyc Gene:HS12253, NCBI Gene:56925, OMIM:609305, RefSeq DNA:NT_005612, RefSeq Protein:NP_064554, RefSeq RNA:NM_020169, UniProtKB:Q9BS40 No chr3 158384203 158390482 158666414 158672722 +PA134928593 8581 HGNC:13348 ENSG00000167656 lymphocyte antigen 6 family member D LY6D lymphocyte antigen 6 complex, locus D E48 Yes No Comparative Toxicogenomics Database:8581, Ensembl:ENSG00000167656, GeneCard:LY6D, HGNC:HGNC:13348, HumanCyc Gene:HS09601, ModBase:Q14210, NCBI Gene:8581, OMIM:606204, RefSeq DNA:NT_008046, RefSeq Protein:NP_003686, RefSeq RNA:NM_003695, UniProtKB:Q14210 No chr8 143866298 143868008 142784882 142786592 +PA30491 4061 HGNC:6727 ENSG00000160932 lymphocyte antigen 6 family member E LY6E """lymphocyte antigen 6 complex, locus E"", ""retinoic acid induced gene E""" RIG-E, SCA-2, TSA-1 Yes No Comparative Toxicogenomics Database:4061, Ensembl:ENSG00000160932, GenAtlas:LY6E, GeneCard:LY6E, HGNC:HGNC:6727, HumanCyc Gene:HS08552, ModBase:Q16553, NCBI Gene:4061, OMIM:601384, RefSeq DNA:NT_008046, RefSeq Protein:NP_001120685, RefSeq Protein:NP_002337, RefSeq RNA:NM_001127213, RefSeq RNA:NM_002346, UCSC Genome Browser:NM_002346, UniProtKB:Q16553 No chr8 144099902 144103827 143018485 143022410 +PA37826 58496 HGNC:13931 ENSG00000240053, ENSG00000240433, ENSG00000241132, ENSG00000241713, ENSG00000244672, ENSG00000263020 lymphocyte antigen 6 family member G5B LY6G5B lymphocyte antigen 6 complex, locus G5B C6orf19, G5b Yes No Ensembl:ENSG00000240053, Ensembl:ENSG00000240433, Ensembl:ENSG00000241132, Ensembl:ENSG00000241713, Ensembl:ENSG00000244672, Ensembl:ENSG00000263020, GenAtlas:LY6G5B, GeneCard:LY6G5B, HGNC:HGNC:13931, HumanCyc Gene:HS13140, ModBase:Q8NDX9, NCBI Gene:58496, OMIM:610433, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_067044, RefSeq RNA:NM_021221, UCSC Genome Browser:NM_021221, UniProtKB:Q8NDX9 No chr6 31638728 31640227 31670951 31672450 +PA37827 80741 HGNC:13932 ENSG00000111971, ENSG00000204428, ENSG00000206404, ENSG00000226404, ENSG00000228883, ENSG00000231325, ENSG00000237495 lymphocyte antigen 6 family member G5C LY6G5C lymphocyte antigen 6 complex, locus G5C C6orf20, G5c, NG33 Yes No Ensembl:ENSG00000111971, Ensembl:ENSG00000204428, Ensembl:ENSG00000206404, Ensembl:ENSG00000226404, Ensembl:ENSG00000228883, Ensembl:ENSG00000231325, Ensembl:ENSG00000237495, GenAtlas:LY6G5C, GeneCard:LY6G5C, HGNC:HGNC:13932, HumanCyc Gene:HS03492, NCBI Gene:80741, OMIM:610434, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_079538, RefSeq RNA:NM_025262, UCSC Genome Browser:NM_025262, UniProtKB:Q5SRR4 No chr6 31644461 31648150 31676684 31680373 +PA37830 80740 HGNC:13936 ENSG00000204421, ENSG00000206398, ENSG00000228250, ENSG00000228859, ENSG00000235452, ENSG00000235925, ENSG00000236183 lymphocyte antigen 6 family member G6C LY6G6C lymphocyte antigen 6 complex, locus G6C C6orf24, G6c, NG24 Yes No Ensembl:ENSG00000204421, Ensembl:ENSG00000206398, Ensembl:ENSG00000228250, Ensembl:ENSG00000228859, Ensembl:ENSG00000235452, Ensembl:ENSG00000235925, Ensembl:ENSG00000236183, GenAtlas:LY6G6C, GeneCard:LY6G6C, HGNC:HGNC:13936, HumanCyc Gene:HS12762, ModBase:O95867, NCBI Gene:80740, OMIM:610435, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_079537, RefSeq RNA:NM_025261, UCSC Genome Browser:NM_025261, UniProtKB:O95867, UniProtKB:Q5SRS8 No chr6 31686425 31689511 31718648 31721734 +PA37829 58530 HGNC:13935 ENSG00000206402, ENSG00000225993, ENSG00000226603, ENSG00000234443, ENSG00000236902, ENSG00000244355 lymphocyte antigen 6 family member G6D LY6G6D lymphocyte antigen 6 complex, locus G6D C6orf23, G6D, LY6-D, Ly6-D, MEGT1, NG25 Yes No Ensembl:ENSG00000206402, Ensembl:ENSG00000225993, Ensembl:ENSG00000226603, Ensembl:ENSG00000234443, Ensembl:ENSG00000236902, Ensembl:ENSG00000244355, GenAtlas:LY6G6D, GeneCard:LY6G6D, HGNC:HGNC:13935, HumanCyc Gene:HS12360, ModBase:O95868, NCBI Gene:58530, OMIM:606038, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_067069, RefSeq RNA:NM_021246, UCSC Genome Browser:NM_021246, UniProtKB:O95868 No chr6 31683048 31685698 31715356 31717804 +PA37828 79136 HGNC:13934 ENSG00000255552 lymphocyte antigen 6 complex, locus G6E (pseudogene) LY6G6E G6e Yes No Comparative Toxicogenomics Database:79136, Ensembl:ENSG00000255552, GenAtlas:LY6G6E, GeneCard:LY6G6E, HGNC:HGNC:13934, NCBI Gene:79136, OMIM:610437, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_003673, RefSeq RNA:NR_024541, UCSC Genome Browser:NM_024123 No chr6 31679753 31681842 31711976 31714065 +PA38371 259215 HGNC:13933 ENSG00000204424, ENSG00000239741, ENSG00000240008, ENSG00000240957, ENSG00000243003 lymphocyte antigen 6 family member G6F LY6G6F lymphocyte antigen 6 complex, locus G6F C6orf21, G6f, LY6G6D, NG32 Yes No Ensembl:ENSG00000204424, Ensembl:ENSG00000239741, Ensembl:ENSG00000240008, Ensembl:ENSG00000240957, Ensembl:ENSG00000243003, GenAtlas:C6orf21, GeneCard:C6orf21, GeneCard:LY6G6F, HGNC:HGNC:13933, ModBase:Q5SQ64, NCBI Gene:259215, OMIM:611404, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_113894, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001003693, RefSeq RNA:NM_001003693, UniProtKB:B0UXB7, UniProtKB:Q5SQ64 No chr6 31674625 31678372 31706907 31710595 +PA30492 4062 HGNC:6728 ENSG00000176956 lymphocyte antigen 6 family member H LY6H lymphocyte antigen 6 complex, locus H NMLY6 Yes No Comparative Toxicogenomics Database:4062, Ensembl:ENSG00000176956, GenAtlas:LY6H, GeneCard:LY6H, HGNC:HGNC:6728, HumanCyc Gene:HS11112, ModBase:O94772, NCBI Gene:4062, OMIM:603625, RefSeq DNA:NT_008046, RefSeq Protein:NP_001123950, RefSeq Protein:NP_001129127, RefSeq Protein:NP_002338, RefSeq RNA:NM_001130478, RefSeq RNA:NM_001135655, RefSeq RNA:NM_002347, UCSC Genome Browser:NM_002347, UniProtKB:O94772 No chr8 144239331 144242053 143157914 143160636 +PA134987940 54742 HGNC:24225 ENSG00000160886 lymphocyte antigen 6 family member K LY6K """cancer/testis antigen 97"", ""lymphocyte antigen 6 complex, locus K""" CT97, FLJ35226, HSJ001348 Yes No Ensembl:ENSG00000160886, GeneCard:LY6K, HGNC:HGNC:24225, HumanCyc Gene:HS14836, NCBI Gene:54742, RefSeq DNA:NT_008046, RefSeq Protein:NP_001153826, RefSeq Protein:NP_001153827, RefSeq Protein:NP_059997, RefSeq RNA:NM_001160354, RefSeq RNA:NM_001160355, RefSeq RNA:NM_017527, UniProtKB:Q17RY6 No chr8 143781529 143785588 142699791 142704170 +PA166181554 101928108 HGNC:52284 ENSG00000261667 lymphocyte antigen 6 family member L LY6L Yes No Ensembl:ENSG00000261667, HGNC:HGNC:52284, NCBI Gene:101928108 No 0 0 0 0 +PA166351944 105375795 HGNC:54397 lymphocyte antigen 6 family member S LY6S LY6A Yes No HGNC:HGNC:54397, NCBI Gene:105375795 No 0 0 0 0 +PA30493 4065 HGNC:6729 ENSG00000054219 lymphocyte antigen 75 LY75 CD205, CLEC13B, DEC-205 Yes No Ensembl:ENSG00000054219, GenAtlas:LY75, GeneCard:LY75, HGNC:HGNC:6729, HumanCyc Gene:HS00666, ModBase:O60449, NCBI Gene:4065, OMIM:604524, RefSeq DNA:NT_005403, RefSeq Protein:NP_002340, RefSeq RNA:NM_002349, UCSC Genome Browser:NM_002349, UniProtKB:O60449 No chr2 160659866 160761267 159803355 159904756 +PA128394549 9450 HGNC:16837 ENSG00000112799 lymphocyte antigen 86 LY86 MD-1, dJ80N2.1 Yes No Comparative Toxicogenomics Database:9450, Ensembl:ENSG00000112799, GeneCard:LY86, HGNC:HGNC:16837, HumanCyc Gene:HS03622, ModBase:O95711, NCBI Gene:9450, OMIM:605241, RefSeq DNA:NT_007592, RefSeq Protein:NP_004262, RefSeq RNA:NM_004271, UCSC Genome Browser:NM_004271, UniProtKB:O95711 No chr6 6588934 6655216 6588639 6654983 +PA165618048 285780 HGNC:26593 ENSG00000216863 LY86 antisense RNA 1 LY86-AS1 FLJ33708 Yes No Ensembl:ENSG00000216863, GeneCard:LY86AS, HGNC:HGNC:26593, NCBI Gene:285780, RefSeq DNA:NT_007592, RefSeq RNA:NR_026970 No chr6 6346698 6623059 6346465 6622826 +PA30494 4063 HGNC:6730 ENSG00000122224 lymphocyte antigen 9 LY9 CD229, SLAMF3, hly9, mLY9 Yes No Ensembl:ENSG00000122224, GenAtlas:LY9, GeneCard:LY9, HGNC:HGNC:6730, HumanCyc Gene:HS04556, ModBase:Q9HBG7, NCBI Gene:4063, OMIM:600684, RefSeq DNA:NT_004487, RefSeq Protein:NP_001028839, RefSeq Protein:NP_002339, RefSeq RNA:NM_001033667, RefSeq RNA:NM_002348, UCSC Genome Browser:NM_002348, UniProtKB:Q05CA2, UniProtKB:Q6P2J4, UniProtKB:Q9HBG7 No chr1 160765864 160798045 160796074 160828256 +PA134924906 23643 HGNC:17156 ENSG00000154589 lymphocyte antigen 96 LY96 MD-2 Yes Yes Comparative Toxicogenomics Database:23643, Ensembl:ENSG00000154589, GeneCard:LY96, HGNC:HGNC:17156, HumanCyc Gene:HS07990, NCBI Gene:23643, OMIM:605243, RefSeq DNA:NT_008183, RefSeq Protein:NP_001182726, RefSeq Protein:NP_056179, RefSeq RNA:NM_001195797, RefSeq RNA:NM_015364, UniProtKB:Q9Y6Y9 No chr8 74903564 74941314 73991275 74099807 +PA162394697 55646 HGNC:26021 ENSG00000145220 Ly1 antibody reactive LYAR cell growth-regulating nucleolar protein ZC2HC2, ZLYAR Yes No Ensembl:ENSG00000145220, GeneCard:LYAR, HGNC:HGNC:26021, HumanCyc Gene:HS17417, ModBase:Q9NX58, NCBI Gene:55646, RefSeq DNA:NT_006051, RefSeq Protein:NP_001139197, RefSeq Protein:NP_060286, RefSeq RNA:NM_001145725, RefSeq RNA:NM_017816, UniProtKB:Q9NX58 No chr4 4269428 4291896 4267701 4290169 +PA162394698 129530 HGNC:27014 ENSG00000144214 lysozyme g1 LYG1 lysozyme G-like 1 LYGA1, SALW1939 Yes No Ensembl:ENSG00000144214, GeneCard:LYG1, HGNC:HGNC:27014, ModBase:Q8N1E2, NCBI Gene:129530, RefSeq DNA:NT_022171, RefSeq Protein:NP_777558, RefSeq RNA:NM_174898, UniProtKB:Q8N1E2 No chr2 99900701 99921205 99284238 99304775 +PA162394717 254773 HGNC:29615 ENSG00000185674 lysozyme g2 LYG2 lysozyme G-like 2 LYGA2, LYGH Yes No Ensembl:ENSG00000185674, GeneCard:LYG2, HGNC:HGNC:29615, ModBase:Q86SG7, NCBI Gene:254773, RefSeq DNA:NT_022171, RefSeq Protein:NP_783862, RefSeq RNA:NM_175735, UniProtKB:Q86SG7 No chr2 99858709 99871570 99242246 99256732 +PA30497 4066 HGNC:6734 ENSG00000104903 LYL1 basic helix-loop-helix family member LYL1 """LYL1, basic helix-loop-helix family member"", ""lymphoblastic leukemia associated hematopoiesis regulator 1"", ""lymphoblastic leukemia derived sequence 1""" bHLHa18 Yes No Comparative Toxicogenomics Database:4066, Ensembl:ENSG00000104903, GenAtlas:LYL1, GeneCard:LYL1, HGNC:HGNC:6734, HumanCyc Gene:HS02651, ModBase:P12980, NCBI Gene:4066, OMIM:151440, RefSeq DNA:NT_011295, RefSeq Protein:NP_005574, RefSeq RNA:NM_005583, UCSC Genome Browser:NM_005583, UniProtKB:P12980 No chr19 13208002 13213974 13099028 13103160 +PA30498 4067 HGNC:6735 ENSG00000254087 LYN proto-oncogene, Src family tyrosine kinase LYN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog JTK8 Yes Yes Comparative Toxicogenomics Database:4067, Ensembl:ENSG00000254087, GenAtlas:LYN, GeneCard:LYN, HGNC:HGNC:6735, HumanCyc Gene:HS07443, ModBase:P07948, NCBI Gene:4067, OMIM:165120, RefSeq DNA:NT_008183, RefSeq Protein:NP_001104567, RefSeq Protein:NP_002341, RefSeq RNA:NM_001111097, RefSeq RNA:NM_002350, UCSC Genome Browser:NM_002350, UniProtKB:P07948 No chr8 56792386 56925006 55877305 56012447 +PA134874147 66004 HGNC:29604 ENSG00000180155 Ly6/neurotoxin 1 LYNX1 SLURP2 Yes No Comparative Toxicogenomics Database:66004, Ensembl:ENSG00000180155, GeneCard:LYNX1, HGNC:HGNC:29604, ModBase:Q9BZG9, NCBI Gene:66004, OMIM:606110, RefSeq DNA:NT_008046, RefSeq Protein:NP_076435, RefSeq Protein:NP_803252, RefSeq Protein:NP_803253, RefSeq Protein:NP_803429, RefSeq Protein:NP_803430, RefSeq RNA:NM_023946, RefSeq RNA:NM_177457, RefSeq RNA:NM_177458, RefSeq RNA:NM_177476, RefSeq RNA:NM_177477, UniProtKB:Q86SR0, UniProtKB:Q9BZG9 No chr8 143845756 143859640 142764334 142777848 +PA134862471 116372 HGNC:28431 ENSG00000150551 LY6/PLAUR domain containing 1 LYPD1 Putative HeLa tumor suppressor LYPDC1, MGC29643, PHTS Yes No Comparative Toxicogenomics Database:116372, Ensembl:ENSG00000150551, GeneCard:LYPD1, HGNC:HGNC:28431, HumanCyc Gene:HS14326, ModBase:Q8N2G4, NCBI Gene:116372, OMIM:610450, RefSeq DNA:NT_022135, RefSeq Protein:NP_001070895, RefSeq Protein:NP_653187, RefSeq RNA:NM_001077427, RefSeq RNA:NM_144586, UniProtKB:Q8N2G4 No chr2 133402337 133429070 132643280 132671579 +PA134911921 137797 HGNC:25215 ENSG00000197353 LY6/PLAUR domain containing 2 LYPD2 LYPDC2, RGTR430, UNQ430 Yes No Comparative Toxicogenomics Database:137797, Ensembl:ENSG00000197353, GeneCard:LYPD2, HGNC:HGNC:25215, ModBase:Q6UXB3, NCBI Gene:137797, RefSeq DNA:NT_008046, RefSeq Protein:NP_991108, RefSeq RNA:NM_205545, UniProtKB:Q6UXB3 No chr8 143831628 143833952 142750150 142752534 +PA142671490 27076 HGNC:24880 ENSG00000124466 LY6/PLAUR domain containing 3 LYPD3 C4.4A Yes No Comparative Toxicogenomics Database:27076, Ensembl:ENSG00000124466, GeneCard:LYPD3, HGNC:HGNC:24880, HumanCyc Gene:HS13132, ModBase:O95274, NCBI Gene:27076, OMIM:609484, RefSeq DNA:NT_011109, RefSeq Protein:NP_055215, RefSeq RNA:NM_014400, UniProtKB:B2RBR3, UniProtKB:O95274 No chr19 43964946 43969831 43460794 43465679 +PA142671491 147719 HGNC:28659 ENSG00000273111 LY6/PLAUR domain containing 4 LYPD4 MGC42718 Yes No Ensembl:ENSG00000273111, GeneCard:LYPD4, HGNC:HGNC:28659, NCBI Gene:147719, RefSeq DNA:NT_011109, RefSeq Protein:NP_775777, RefSeq RNA:NM_173506, UniProtKB:A8K8E0, UniProtKB:Q6UWN0 No chr19 42339356 42348774 41833686 41844771 +PA142671492 284348 HGNC:26397 ENSG00000159871 LY6/PLAUR domain containing 5 LYPD5 human antigen with LU-domains expressed in skin FLJ30469, Haldisin Yes No Comparative Toxicogenomics Database:284348, Ensembl:ENSG00000159871, GeneCard:LYPD5, HGNC:HGNC:26397, NCBI Gene:284348, RefSeq DNA:NT_011109, RefSeq Protein:NP_001026919, RefSeq Protein:NP_872379, RefSeq RNA:NM_001031749, RefSeq RNA:NM_182573, UniProtKB:Q6UWN5 No chr19 44300079 44324808 43794835 43827199 +PA147357619 130574 HGNC:28751 ENSG00000187123 LY6/PLAUR domain containing 6 LYPD6 MGC52057 Yes No Ensembl:ENSG00000187123, GeneCard:LYPD6, HGNC:HGNC:28751, ModBase:Q86Y78, NCBI Gene:130574, OMIM:613359, RefSeq DNA:NT_005403, RefSeq Protein:NP_001182614, RefSeq Protein:NP_919298, RefSeq RNA:NM_001195685, RefSeq RNA:NM_194317, UniProtKB:Q86Y78 No chr2 150186499 150330662 149329985 149474148 +PA162394734 130576 HGNC:27018 ENSG00000150556 LY6/PLAUR domain containing 6B LYPD6B cancer/testis antigen 116 CT116, LYPD7 Yes No Ensembl:ENSG00000150556, GeneCard:LYPD6B, HGNC:HGNC:27018, NCBI Gene:130576, RefSeq DNA:NT_005403, RefSeq Protein:NP_808879, RefSeq RNA:NM_177964, UniProtKB:Q8NI32 No chr2 149894981 150071776 149038467 149215262 +PA166049119 646627 HGNC:44208 ENSG00000259823 LY6/PLAUR domain containing 8 LYPD8 Yes No Ensembl:ENSG00000259823, HGNC:HGNC:44208, NCBI Gene:646627 No chr1 248902716 248903171 248739415 248755787 +PA30499 10434 HGNC:6737 ENSG00000120992 lysophospholipase 1 LYPLA1 acyl-protein thioesterase 1, lysophospholipase I APT-1, LPL1 Yes No Comparative Toxicogenomics Database:10434, Ensembl:ENSG00000120992, GenAtlas:LYPLA1, GeneCard:LYPLA1, HGNC:HGNC:6737, HumanCyc Gene:HS04458, ModBase:O75608, NCBI Gene:10434, OMIM:605599, RefSeq DNA:NT_008183, RefSeq Protein:NP_006321, RefSeq RNA:NM_006330, UCSC Genome Browser:NM_006330, UniProtKB:O75608, UniProtKB:Q6IAQ1 No chr8 54958927 55014577 54046367 54102017 +PA30500 11313 HGNC:6738 ENSG00000011009 lysophospholipase 2 LYPLA2 acyl-protein thioesterase 2, lysophospholipase II APT-2 Yes No Comparative Toxicogenomics Database:11313, Ensembl:ENSG00000011009, GenAtlas:LYPLA2, GeneCard:LYPLA2, HGNC:HGNC:6738, HumanCyc Gene:HS00297, ModBase:O95372, NCBI Gene:11313, RefSeq DNA:NT_004610, RefSeq Protein:NP_009191, RefSeq RNA:NM_007260, UCSC Genome Browser:NM_007260, UniProtKB:O95372 No chr1 24117275 24122029 23790789 23795539 +PA134934980 653639 HGNC:21069 ENSG00000228285 lysophospholipase II pseudogene 1 LYPLA2P1 APT, dJ570F3.6 Yes No Ensembl:ENSG00000228285, GeneCard:LYPLA2P1, HGNC:HGNC:21069, NCBI Gene:653639, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq RNA:NR_001444 No chr6 33332501 33334139 33364724 33366362 +PA134986975 127018 HGNC:20440 ENSG00000143353 lysophospholipase like 1 LYPLAL1 lysophospholipase-like 1 Q96AV0 Yes No Comparative Toxicogenomics Database:127018, Ensembl:ENSG00000143353, GeneCard:LYPLAL1, HGNC:HGNC:20440, HumanCyc Gene:HS07032, ModBase:Q5VWZ2, NCBI Gene:127018, RefSeq DNA:NT_167186, RefSeq Protein:NP_620149, RefSeq RNA:NM_138794, UniProtKB:Q5VWZ2 No chr1 219347192 219386207 219173831 219445121 +PA162394735 57149 HGNC:25074 ENSG00000102897 LYR motif containing 1 LYRM1 A211C6.1 Yes No Ensembl:ENSG00000102897, GeneCard:LYRM1, HGNC:HGNC:25074, HumanCyc Gene:HS12498, NCBI Gene:57149, RefSeq DNA:NT_010393, RefSeq Protein:NP_001121773, RefSeq Protein:NP_001121774, RefSeq Protein:NP_065157, RefSeq RNA:NM_001128301, RefSeq RNA:NM_001128302, RefSeq RNA:NM_020424, UniProtKB:O43325 No chr16 20911204 20936328 20899626 20925006 +PA162394751 57226 HGNC:25229 ENSG00000083099 LYR motif containing 2 LYRM2 DJ122O8.2 Yes No Ensembl:ENSG00000083099, GeneCard:LYRM2, HGNC:HGNC:25229, HumanCyc Gene:HS12276, NCBI Gene:57226, RefSeq DNA:NT_007299, RefSeq Protein:NP_065199, RefSeq RNA:NM_020466, RefSeq RNA:NR_028493, RefSeq RNA:NR_028494, RefSeq RNA:NR_028495, UniProtKB:Q9NU23 No chr6 90341943 90348474 89632224 89638755 +PA162394762 57128 HGNC:21365 ENSG00000214113 LYR motif containing 4 LYRM4 C6orf149, CGI-203, ISD11 Yes No Ensembl:ENSG00000214113, GeneCard:LYRM4, HGNC:HGNC:21365, NCBI Gene:57128, OMIM:613311, RefSeq DNA:NT_007592, RefSeq Protein:NP_001158312, RefSeq Protein:NP_001158313, RefSeq Protein:NP_065141, RefSeq RNA:NM_001164840, RefSeq RNA:NM_001164841, RefSeq RNA:NM_020408, UniProtKB:C9JRX8, UniProtKB:Q9HD34 No chr6 5047395 5261172 5031029 5260950 +PA162394784 90624 HGNC:28072 ENSG00000186687 LYR motif containing 7 LYRM7 C5orf31, FLJ20796, MZM1L Yes No Ensembl:ENSG00000186687, GeneCard:LYRM7, HGNC:HGNC:28072, NCBI Gene:90624, RefSeq DNA:NT_034772, RefSeq Protein:NP_859056, RefSeq RNA:NM_181705, UniProtKB:Q5U5X0 No chr5 130506641 130541119 131170914 131205426 +PA165431642 201229 HGNC:27314 ENSG00000232859 LYR motif containing 9 LYRM9 C17orf108, HSD24 Yes No Ensembl:ENSG00000232859, GeneCard:C17orf108, HGNC:HGNC:27314, NCBI Gene:201229, RefSeq DNA:NT_010799, RefSeq Protein:NP_001070148, RefSeq RNA:NM_001076680, UniProtKB:A8MSI8 No chr17 26205340 26220409 27878314 27893383 +PA134977710 26175 HGNC:20218 ENSG00000153485 lysosomal enzyme trafficking factor LYSET GNPTAB cleavage and activity factor, transmembrane protein 251 C14orf109, DKFZP564F1123, GCAF, TMEM251 Yes No Comparative Toxicogenomics Database:26175, Ensembl:ENSG00000153485, GeneCard:C14orf109, HGNC:HGNC:20218, HumanCyc Gene:HS14473, NCBI Gene:26175, RefSeq DNA:NT_026437, RefSeq Protein:NP_001092091, RefSeq Protein:NP_056491, RefSeq RNA:NM_001098621, RefSeq RNA:NM_015676, UniProtKB:Q8N6I4 No chr14 93651296 93653431 93184951 93187086 +PA142671493 388695 HGNC:32070 ENSG00000163155 LysM domain containing 1 LYSMD1 LysM, putative peptidoglycan-binding, domain containing 1 MGC35223, RP11-68I18.5, SB145 Yes No Comparative Toxicogenomics Database:388695, Ensembl:ENSG00000163155, GeneCard:LYSMD1, HGNC:HGNC:32070, ModBase:Q96S90, NCBI Gene:388695, RefSeq DNA:NT_004487, RefSeq Protein:NP_001130015, RefSeq Protein:NP_997716, RefSeq RNA:NM_001136543, RefSeq RNA:NM_212551, UniProtKB:B4DQA1, UniProtKB:Q96S90 No chr1 151132224 151138424 151148496 151165948 +PA142671494 256586 HGNC:28571 ENSG00000140280 LysM domain containing 2 LYSMD2 LysM, putative peptidoglycan-binding, domain containing 2 MGC35274 Yes No Comparative Toxicogenomics Database:256586, Ensembl:ENSG00000140280, GeneCard:LYSMD2, HGNC:HGNC:28571, HumanCyc Gene:HS13823, ModBase:Q8IV50, NCBI Gene:256586, RefSeq DNA:NT_010194, RefSeq Protein:NP_001137389, RefSeq Protein:NP_699205, RefSeq RNA:NM_001143917, RefSeq RNA:NM_153374, UniProtKB:Q8IV50 No chr15 52015261 52043650 51723064 51751453 +PA142671495 116068 HGNC:26969 ENSG00000176018 LysM domain containing 3 LYSMD3 LysM, putative peptidoglycan-binding, domain containing 3 FLJ13542 Yes No Ensembl:ENSG00000176018, GeneCard:LYSMD3, HGNC:HGNC:26969, ModBase:Q7Z3D4, NCBI Gene:116068, RefSeq DNA:NT_006713, RefSeq Protein:NP_938014, RefSeq RNA:NM_198273, UniProtKB:A8K613, UniProtKB:Q7Z3D4 No chr5 89811443 89825401 90515626 90529616 +PA142671496 145748 HGNC:26571 ENSG00000183060 LysM domain containing 4 LYSMD4 LysM, putative peptidoglycan-binding, domain containing 4 FLJ33008 Yes No Comparative Toxicogenomics Database:145748, Ensembl:ENSG00000183060, GeneCard:LYSMD4, HGNC:HGNC:26571, NCBI Gene:145748, RefSeq DNA:NT_010274, RefSeq Protein:NP_689662, RefSeq RNA:NM_152449, UniProtKB:A6NII6, UniProtKB:B3KWE4 No chr15 100267610 100273766 99715033 99733561 +PA26500 1130 HGNC:1968 ENSG00000143669 lysosomal trafficking regulator LYST CHS, CHS1, Mauve Yes No Comparative Toxicogenomics Database:1130, Ensembl:ENSG00000143669, GenAtlas:LYST, GeneCard:LYST, HGNC:HGNC:1968, HumanCyc Gene:HS07094, ModBase:Q99698, NCBI Gene:1130, OMIM:214500, OMIM:606897, RefSeq DNA:NG_007397, RefSeq DNA:NT_167186, RefSeq Protein:NP_000072, RefSeq RNA:NM_000081, UCSC Genome Browser:NM_000081, UniProtKB:Q99698 No chr1 235824331 236047008 235661031 235883708 +PA162394799 10894 HGNC:14687 ENSG00000133800 lymphatic vessel endothelial hyaluronan receptor 1 LYVE1 LYVE-1, XLKD1 Yes No Ensembl:ENSG00000133800, GeneCard:LYVE1, HGNC:HGNC:14687, HumanCyc Gene:HS05788, ModBase:Q9Y5Y7, NCBI Gene:10894, OMIM:605702, RefSeq DNA:NT_009237, RefSeq Protein:NP_006682, RefSeq RNA:NM_006691, UniProtKB:B2R672, UniProtKB:Q9Y5Y7 No chr11 10578712 10590365 10557866 10568818 +PA30503 4069 HGNC:6740 ENSG00000090382 lysozyme LYZ renal amyloidosis Yes No Comparative Toxicogenomics Database:4069, Ensembl:ENSG00000090382, GenAtlas:LYZ, GeneCard:LYZ, HGNC:HGNC:6740, HumanCyc Gene:HS01687, ModBase:P61626, NCBI Gene:4069, OMIM:105200, OMIM:153450, RefSeq DNA:NG_008195, RefSeq DNA:NT_029419, RefSeq Protein:NP_000230, RefSeq RNA:NM_000239, UCSC Genome Browser:NM_000239, UniProtKB:B2R4C5, UniProtKB:P61626 No chr12 69742134 69748013 69348354 69354233 +PA134868520 84569 HGNC:30502 ENSG00000120563 lysozyme like 1 LYZL1 lysozyme-like 1 LYC2, MGC33408 Yes No Comparative Toxicogenomics Database:84569, Ensembl:ENSG00000120563, GeneCard:LYZL1, HGNC:HGNC:30502, HumanCyc Gene:HS04409, ModBase:Q6UWQ5, NCBI Gene:84569, RefSeq DNA:NT_008705, RefSeq Protein:NP_115906, RefSeq RNA:NM_032517, UniProtKB:Q6UWQ5 No chr10 29577980 29607158 29289051 29318328 +PA134920379 119180 HGNC:29613 ENSG00000151033 lysozyme like 2 LYZL2 lysozyme-like 2 Yes No Ensembl:ENSG00000151033, GeneCard:LYZL2, HGNC:HGNC:29613, ModBase:Q7Z4W2, NCBI Gene:119180, OMIM:612748, RefSeq DNA:NT_008705, RefSeq Protein:NP_898881, RefSeq RNA:NM_183058, UniProtKB:Q7Z4W2 No chr10 30900708 30918647 30606222 30629761 +PA134911368 131375 HGNC:28387 ENSG00000157093 lysozyme like 4 LYZL4 lysozyme-like 4 LYC4, MGC26768 Yes No Comparative Toxicogenomics Database:131375, Ensembl:ENSG00000157093, GeneCard:LYZL4, HGNC:HGNC:28387, HumanCyc Gene:HS08177, ModBase:Q96KX0, NCBI Gene:131375, OMIM:612750, RefSeq DNA:NT_022517, RefSeq Protein:NP_653235, RefSeq RNA:NM_144634, UniProtKB:Q96KX0 No chr3 42438575 42452125 42360767 42427911 +PA134942111 57151 HGNC:29614 ENSG00000275722 lysozyme like 6 LYZL6 lysozyme-like 6 LYC1, PRO1485, TKAL754 Yes No Comparative Toxicogenomics Database:57151, Ensembl:ENSG00000275722, GeneCard:LYZL6, HGNC:HGNC:29614, HumanCyc Gene:HS08595, ModBase:O75951, NCBI Gene:57151, OMIM:612751, RefSeq DNA:NT_010799, RefSeq Protein:NP_001186880, RefSeq Protein:NP_065159, RefSeq RNA:NM_001199951, RefSeq RNA:NM_020426, UniProtKB:O75951 No chr17 34261522 34270714 35934518 35943710 +PA30504 84328 HGNC:17497 ENSG00000162441 leucine zipper and CTNNBIP1 domain containing LZIC MGC15436 Yes No Comparative Toxicogenomics Database:84328, Ensembl:ENSG00000162441, GenAtlas:LZIC, GeneCard:LZIC, HGNC:HGNC:17497, HumanCyc Gene:HS14917, ModBase:Q8WZA0, NCBI Gene:84328, OMIM:610458, RefSeq DNA:NT_021937, RefSeq Protein:NP_115744, RefSeq RNA:NM_032368, UCSC Genome Browser:NM_032368, UniProtKB:Q8WZA0 No chr1 9982168 10003460 9922113 9943427 +PA30505 54585 HGNC:6741 ENSG00000163818 leucine zipper transcription factor like 1 LZTFL1 leucine zipper transcription factor-like 1 BBS17 Yes No Comparative Toxicogenomics Database:54585, Ensembl:ENSG00000163818, GenAtlas:LZTFL1, GeneCard:LZTFL1, HGNC:HGNC:6741, HumanCyc Gene:HS15112, ModBase:Q9NQ48, NCBI Gene:54585, OMIM:606568, RefSeq DNA:NT_022517, RefSeq Protein:NP_065080, RefSeq RNA:NM_020347, UCSC Genome Browser:NM_020347, UniProtKB:Q9NQ48 No chr3 45864808 45957216 45823316 45916042 +PA30506 8216 HGNC:6742 ENSG00000099949 leucine zipper like post translational regulator 1 LZTR1 leucine zipper like transcription regulator 1, leucine-zipper-like transcription regulator 1 BTBD29, LZTR-1 Yes Yes Comparative Toxicogenomics Database:8216, Ensembl:ENSG00000099949, GenAtlas:LZTR1, GeneCard:LZTR1, HGNC:HGNC:6742, HumanCyc Gene:HS01934, ModBase:Q8N653, NCBI Gene:8216, OMIM:600574, RefSeq DNA:NT_011520, RefSeq Protein:NP_006758, RefSeq RNA:NM_006767, UCSC Genome Browser:NM_006767, UniProtKB:Q8N653 No chr22 21336558 21353326 20982269 20999037 +PA30507 11178 HGNC:13861 ENSG00000061337 leucine zipper tumor suppressor 1 LZTS1 """F37/Esophageal cancer-related gene-coding leucine-zipper motif"", ""leucine zipper, putative tumor suppressor 1""" FEZ1 Yes No Comparative Toxicogenomics Database:11178, Ensembl:ENSG00000061337, GenAtlas:LZTS1, GeneCard:LZTS1, HGNC:HGNC:13861, HumanCyc Gene:HS00754, ModBase:Q9Y250, NCBI Gene:11178, OMIM:133239, OMIM:606551, RefSeq DNA:NG_015834, RefSeq DNA:NT_167187, RefSeq Protein:NP_066300, RefSeq RNA:NM_021020, UCSC Genome Browser:NM_021020, UniProtKB:Q9Y250 No chr8 20103676 20161492 20246165 20303981 +PA134944540 84445 HGNC:29381 ENSG00000107816 leucine zipper tumor suppressor 2 LZTS2 leucine zipper, putative tumor suppressor 2 KIAA1813, LAPSER1 Yes No Ensembl:ENSG00000107816, GeneCard:LZTS2, HGNC:HGNC:29381, ModBase:Q9BRK4, NCBI Gene:84445, OMIM:610454, RefSeq DNA:NT_030059, RefSeq Protein:NP_115805, RefSeq RNA:NM_032429, UniProtKB:Q9BRK4 No chr10 102756864 102767593 100997065 101007836 +PA166181555 9762 HGNC:30139 ENSG00000088899 leucine zipper tumor suppressor family member 3 LZTS3 ProSAP/Shank-interacting protein 1 KIAA0552, ProSAPiP1 Yes No Ensembl:ENSG00000088899, HGNC:HGNC:30139, NCBI Gene:9762 No 0 0 0 0 +PA166351945 HGNC:6747 membrane external protein 195kDa M195 Yes No HGNC:HGNC:6747 No 0 0 0 0 +PA162379401 130951 HGNC:25183 ENSG00000159374 meiosis 1 associated protein M1AP meiosis 1 arresting protein, spermatogenesis associated 37 C2orf65, D6Mm5e, SPATA37 Yes No Ensembl:ENSG00000159374, GeneCard:C2orf65, HGNC:HGNC:25183, HumanCyc Gene:HS14756, ModBase:Q8TC57, NCBI Gene:130951, RefSeq DNA:NT_022184, RefSeq Protein:NP_620159, RefSeq RNA:NM_138804, UniProtKB:Q8TC57 No chr2 74785010 74875994 74557640 74648338 +PA30513 4074 HGNC:6752 ENSG00000003056 mannose-6-phosphate receptor, cation dependent M6PR mannose-6-phosphate receptor (cation dependent) CD-M6PR, CD-MPR Yes No Comparative Toxicogenomics Database:4074, Ensembl:ENSG00000003056, GenAtlas:M6PR, GeneCard:M6PR, HGNC:HGNC:6752, HumanCyc Gene:HS00089, ModBase:P20645, NCBI Gene:4074, OMIM:154540, RefSeq DNA:NT_009714, RefSeq Protein:NP_001193953, RefSeq Protein:NP_002346, RefSeq RNA:NM_001207024, RefSeq RNA:NM_002355, UCSC Genome Browser:NM_002355, UniProtKB:P20645 No chr12 9092957 9102357 8940361 8949761 +PA30516 4081 HGNC:6757 ENSG00000180660 mab-21 like 1 MAB21L1 mab-21-like 1 (C. elegans) CAGR1 Yes No Ensembl:ENSG00000180660, GenAtlas:MAB21L1, GeneCard:MAB21L1, HGNC:HGNC:6757, HumanCyc Gene:HS11515, ModBase:Q13394, NCBI Gene:4081, OMIM:601280, RefSeq DNA:NG_016811, RefSeq DNA:NT_024524, RefSeq Protein:NP_005575, RefSeq RNA:NM_005584, UCSC Genome Browser:NM_005584, UniProtKB:B2R805, UniProtKB:Q13394 No chr13 36047926 36052786 35473789 35476695 +PA30517 10586 HGNC:6758 ENSG00000181541 mab-21 like 2 MAB21L2 mab-21-like 2 (C. elegans) Yes No Comparative Toxicogenomics Database:10586, Ensembl:ENSG00000181541, GenAtlas:MAB21L2, GeneCard:MAB21L2, HGNC:HGNC:6758, HumanCyc Gene:HS11630, ModBase:Q9Y586, NCBI Gene:10586, OMIM:604357, RefSeq DNA:NT_016354, RefSeq Protein:NP_006430, RefSeq RNA:NM_006439, UCSC Genome Browser:NM_006439, UniProtKB:Q9Y586 No chr4 151503077 151505845 150581925 150584693 +PA142672412 126868 HGNC:26787 ENSG00000173212 mab-21 like 3 MAB21L3 DANGER family member 5, mab-21-like 3 (C. elegans) C1orf161, D5, FLJ38716 Yes No Ensembl:ENSG00000173212, GeneCard:C1orf161, HGNC:HGNC:26787, HumanCyc Gene:HS16182, ModBase:Q8N8X9, NCBI Gene:126868, RefSeq DNA:NT_032977, RefSeq Protein:NP_689580, RefSeq RNA:NM_152367, UniProtKB:Q8N8X9 No chr1 116654376 116677861 116072744 116135240 +PA162379226 79919 HGNC:26216 ENSG00000172478 mab-21 like 4 MAB21L4 chromosome 2 open reading frame 54 C2orf54, FLJ22671 Yes No Ensembl:ENSG00000172478, GeneCard:C2orf54, HGNC:HGNC:26216, HumanCyc Gene:HS16092, ModBase:Q08AI8, NCBI Gene:79919, RefSeq DNA:NT_005416, RefSeq Protein:NP_001078906, RefSeq Protein:NP_079137, RefSeq RNA:NM_001085437, RefSeq RNA:NM_024861, UniProtKB:Q08AI8 No chr2 241825465 241836267 240886048 240896889 +PA164722150 346389 HGNC:30215 ENSG00000183742 MET transcriptional regulator MACC1 MACC1 metastasis associated in colon cancer 1 7A5, SH3BP4L Yes No Ensembl:ENSG00000183742, GeneCard:MACC1, HGNC:HGNC:30215, NCBI Gene:346389, OMIM:612646, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_877439, RefSeq RNA:NM_182762, UniProtKB:Q6ZN28 No chr7 20174278 20257013 20134655 20217390 +PA30518 23499 HGNC:13664 ENSG00000127603 microtubule actin crosslinking factor 1 MACF1 620 kDa actin binding protein, actin cross-linking factor, actin cross-linking family protein 7, macrophin 1, microtubule-actin crosslinking factor 1, postulated migration inhibitory factor, trabeculin-alpha ABP620, ACF7, FLJ45612, FLJ46776, KIAA0465, KIAA0754, KIAA1251, Lnc-PMIF, MACF Yes No Comparative Toxicogenomics Database:23499, Ensembl:ENSG00000127603, GenAtlas:MACF1, GeneCard:MACF1, HGNC:HGNC:13664, HumanCyc Gene:HS05121, ModBase:Q96PK2, ModBase:Q9UPN3, NCBI Gene:23499, OMIM:608271, RefSeq DNA:NT_032977, RefSeq Protein:NP_036222, RefSeq Protein:NP_149033, RefSeq RNA:NM_012090, RefSeq RNA:NM_033044, UCSC Genome Browser:NM_012090, UniProtKB:Q96PK2, UniProtKB:Q9UPN3 No chr1 39549839 39952810 39084167 39487138 +PA166351946 90355 HGNC:25052 macrophage immunometabolism regulator MACIR UNC119-binding protein C5orf30, FLJ25291 Yes No HGNC:HGNC:25052, NCBI Gene:90355 No 0 0 0 0 +PA142670773 55219 HGNC:25572 ENSG00000204178 macoilin 1 MACO1 transmembrane protein 57 FLJ10747, TMEM57 Yes Yes Comparative Toxicogenomics Database:55219, Ensembl:ENSG00000204178, GeneCard:TMEM57, HGNC:HGNC:25572, ModBase:Q8N5G2, NCBI Gene:55219, OMIM:610301, RefSeq DNA:NT_004610, RefSeq Protein:NP_060672, RefSeq RNA:NM_018202, UniProtKB:Q8N5G2 No chr1 25757388 25826700 25430858 25500209 +PA162394816 28992 HGNC:29598 ENSG00000133315 mono-ADP ribosylhydrolase 1 MACROD1 MACRO domain containing 1 LRP16 Yes No Ensembl:ENSG00000133315, GeneCard:MACROD1, HGNC:HGNC:29598, HumanCyc Gene:HS13473, ModBase:Q9BQ69, NCBI Gene:28992, OMIM:610400, RefSeq DNA:NT_167190, RefSeq Protein:NP_054786, RefSeq RNA:NM_014067, UniProtKB:Q9BQ69 No chr11 63766006 63933602 63998554 64166652 +PA162394843 140733 HGNC:16126 ENSG00000172264 mono-ADP ribosylhydrolase 2 MACROD2 MACRO domain containing 2, O-acetyl-ADP-ribose deacetylase MACROD2 C20orf133, dJ631M13.5 Yes Yes Ensembl:ENSG00000172264, GeneCard:MACROD2, HGNC:HGNC:16126, HumanCyc Gene:HS16065, NCBI Gene:140733, OMIM:611567, RefSeq DNA:NT_011387, RefSeq Protein:NP_001028259, RefSeq Protein:NP_542407, RefSeq RNA:NM_001033087, RefSeq RNA:NM_080676, UniProtKB:A1Z1Q3 No chr20 13976146 16033842 13995476 16053197 +PA165392430 100379174 HGNC:37193 ENSG00000235914 MACROD2 antisense RNA 1 MACROD2-AS1 Yes No Ensembl:ENSG00000235914, GeneCard:MACROD2-AS1, HGNC:HGNC:37193, NCBI Gene:100379174, RefSeq RNA:NR_037841 No chr20 14864899 14910161 14884253 14929518 +PA25778 140848 HGNC:16201 ENSG00000227927 MACROD2 intronic transcript 1 (non-protein coding) MACROD2-IT1 bA467D7.4 Yes No Ensembl:ENSG00000227927, GenAtlas:C20orf68, GeneCard:C20orf68, GeneCard:NCRNA00227, HGNC:HGNC:16201, NCBI Gene:140848 No chr20 +PA166351947 9555 HGNC:4740 macroH2A.1 histone MACROH2A1 H2AFY, macroH2A1.2 Yes No HGNC:HGNC:4740, NCBI Gene:9555 No 0 0 0 0 +PA166351948 55506 HGNC:14453 macroH2A.2 histone MACROH2A2 H2AFY2 Yes No HGNC:HGNC:14453, NCBI Gene:55506 No 0 0 0 0 +PA372 8379 HGNC:6762 ENSG00000002822 mitotic arrest deficient 1 like 1 MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) HsMAD1, MAD1, PIG9, TP53I9, TXBP181 Yes Yes Comparative Toxicogenomics Database:8379, Ensembl:ENSG00000002822, GenAtlas:MAD1L1, GeneCard:MAD1L1, HGNC:HGNC:6762, HumanCyc Gene:HS00086, ModBase:Q9Y6D9, NCBI Gene:8379, OMIM:176807, OMIM:602686, RefSeq DNA:NG_011518, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001013858, RefSeq Protein:NP_001013859, RefSeq Protein:NP_003541, RefSeq RNA:NM_001013836, RefSeq RNA:NM_001013837, RefSeq RNA:NM_003550, UCSC Genome Browser:NM_003550, UniProtKB:Q9Y6D9 No chr7 1855428 2272583 1815792 2232971 +PA30521 4085 HGNC:6763 ENSG00000164109 mitotic arrest deficient 2 like 1 MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) HSMAD2, MAD2 Yes No Comparative Toxicogenomics Database:4085, Ensembl:ENSG00000164109, GenAtlas:MAD2L1, GeneCard:MAD2L1, HGNC:HGNC:6763, HumanCyc Gene:HS09016, ModBase:Q13257, NCBI Gene:4085, OMIM:601467, RefSeq DNA:NT_016354, RefSeq Protein:NP_002349, RefSeq RNA:NM_002358, UCSC Genome Browser:NM_002358, UniProtKB:Q13257 No chr4 120980577 120988013 120059422 120066858 +PA134911020 9587 HGNC:21059 ENSG00000124688 MAD2L1 binding protein MAD2L1BP CMT2, KIAA0110, dJ261G23.1, p31comet Yes No Comparative Toxicogenomics Database:9587, Ensembl:ENSG00000124688, GeneCard:MAD2L1BP, HGNC:HGNC:21059, HumanCyc Gene:HS13142, ModBase:Q15013, NCBI Gene:9587, RefSeq DNA:NT_007592, RefSeq Protein:NP_001003690, RefSeq Protein:NP_055443, RefSeq RNA:NM_001003690, RefSeq RNA:NM_014628, UniProtKB:Q15013 No chr6 43597279 43608689 43629542 43640952 +PA134977403 326596 HGNC:20019 ENSG00000258445 MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene 1 MAD2L1P1 Yes No Ensembl:ENSG00000258445, HGNC:HGNC:20019, NCBI Gene:326596, RefSeq DNA:NG_002592, RefSeq DNA:NT_026437 No chr14 61246583 61247985 60779865 60781267 +PA398 10459 HGNC:6764 ENSG00000116670 mitotic arrest deficient 2 like 2 MAD2L2 """MAD2 mitotic arrest deficient-like 2 (yeast)"", ""mitotic arrest deficient homolog-like 2"", ""polymerase (DNA-directed), zeta 2, accessory subunit""" FANCV, MAD2B, POLZ2, REV7 Yes Yes Comparative Toxicogenomics Database:10459, Ensembl:ENSG00000116670, GenAtlas:MAD2L2, GeneCard:MAD2L2, HGNC:HGNC:6764, HumanCyc Gene:HS04031, ModBase:Q9UI95, NCBI Gene:10459, OMIM:604094, RefSeq DNA:NT_021937, RefSeq Protein:NP_001120797, RefSeq Protein:NP_006332, RefSeq RNA:NM_001127325, RefSeq RNA:NM_006341, UCSC Genome Browser:NM_006341, UniProtKB:B3KNE3, UniProtKB:Q9UI95 No chr1 11734537 11751678 11674480 11691788 +PA30522 8174 HGNC:6765 ENSG00000099866 mucosal vascular addressin cell adhesion molecule 1 MADCAM1 mucosal addressin cell adhesion molecule-1 MACAM1 Yes No Comparative Toxicogenomics Database:8174, Ensembl:ENSG00000099866, GenAtlas:MADCAM1, GeneCard:MADCAM1, HGNC:HGNC:6765, HumanCyc Gene:HS01923, NCBI Gene:8174, OMIM:102670, RefSeq DNA:NT_011255, RefSeq Protein:NP_570116, RefSeq Protein:NP_570118, RefSeq RNA:NM_130760, RefSeq RNA:NM_130762, UCSC Genome Browser:NM_130760, UniProtKB:B2RPL9, UniProtKB:Q13477, UniProtKB:Q5UGI7 No chr19 496487 505343 496490 505343 +PA30523 8567 HGNC:6766 ENSG00000110514 MAP kinase activating death domain MADD Insuloma-Glucagonoma protein 20, MAP-kinase activating death domain, differentially expressed in normal and neoplastic cells DENN, IG20, KIAA0358, RAB3GEP Yes No Comparative Toxicogenomics Database:8567, Ensembl:ENSG00000110514, GenAtlas:MADD, GeneCard:MADD, HGNC:HGNC:6766, HumanCyc Gene:HS03318, NCBI Gene:8567, OMIM:603584, RefSeq DNA:NT_009237, RefSeq Protein:NP_001129415, RefSeq Protein:NP_001129416, RefSeq Protein:NP_003673, RefSeq Protein:NP_569826, RefSeq Protein:NP_569827, RefSeq Protein:NP_569828, RefSeq Protein:NP_569829, RefSeq Protein:NP_569830, RefSeq Protein:NP_569831, RefSeq Protein:NP_569832, RefSeq RNA:NM_001135943, RefSeq RNA:NM_001135944, RefSeq RNA:NM_003682, RefSeq RNA:NM_130470, RefSeq RNA:NM_130471, RefSeq RNA:NM_130472, RefSeq RNA:NM_130473, RefSeq RNA:NM_130474, RefSeq RNA:NM_130475, RefSeq RNA:NM_130476, UCSC Genome Browser:NM_003682, UniProtKB:A8K8S7, UniProtKB:B5MEE5, UniProtKB:Q8WXG6 No chr11 47290927 47351582 47269376 47330031 +PA30533 10296 HGNC:13731 ENSG00000090316 macrophage erythroblast attacher, E3 ubiquitin ligase MAEA """GID complex subunit 9, FYV10 homolog (S. cerevisiae)"", ""macrophage erythroblast attacher""" EMP, GID9, HLC-10, p44EMLP Yes No Comparative Toxicogenomics Database:10296, Ensembl:ENSG00000090316, GenAtlas:MAEA, GeneCard:MAEA, HGNC:HGNC:13731, HumanCyc Gene:HS01682, ModBase:Q7L5Y9, NCBI Gene:10296, OMIM:606801, RefSeq DNA:NT_037622, RefSeq Protein:NP_001017405, RefSeq Protein:NP_005873, RefSeq RNA:NM_001017405, RefSeq RNA:NM_005882, UCSC Genome Browser:NM_005882, UniProtKB:Q7L5Y9 No chr4 1283642 1333925 1289851 1340148 +PA142671488 84944 HGNC:25929 ENSG00000143194 maelstrom spermatogenic transposon silencer MAEL cancer/testis antigen 128, spermatogenesis associated 35 CT128, FLJ14904, SPATA35 Yes No Ensembl:ENSG00000143194, GeneCard:MAEL, HGNC:HGNC:25929, HumanCyc Gene:HS07007, ModBase:Q96JY0, NCBI Gene:84944, OMIM:611368, RefSeq DNA:NT_004487, RefSeq Protein:NP_116247, RefSeq RNA:NM_032858, UniProtKB:Q96JY0 No chr1 166958394 166991451 166921121 167022214 +PA30534 4094 HGNC:6776 ENSG00000178573 MAF bZIP transcription factor MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog, v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) c-MAF Yes No Comparative Toxicogenomics Database:4094, Ensembl:ENSG00000178573, GenAtlas:MAF, GeneCard:MAF, HGNC:HGNC:6776, HumanCyc Gene:HS11298, ModBase:O75444, NCBI Gene:4094, OMIM:177075, OMIM:610202, RefSeq DNA:NG_016440, RefSeq DNA:NT_010498, RefSeq Protein:NP_001026974, RefSeq Protein:NP_005351, RefSeq RNA:NM_001031804, RefSeq RNA:NM_005360, UCSC Genome Browser:NM_005360, UniProtKB:O75444 No chr16 79627745 79634622 79202624 79600725 +PA142671489 84232 HGNC:24966 ENSG00000179632 MAF1 homolog, negative regulator of RNA polymerase III MAF1 MAF1 homolog (S. cerevisiae) DKFZp586G1123 Yes No Comparative Toxicogenomics Database:84232, Ensembl:ENSG00000179632, GeneCard:MAF1, HGNC:HGNC:24966, HumanCyc Gene:HS17323, NCBI Gene:84232, OMIM:610210, RefSeq DNA:NT_008046, RefSeq Protein:NP_115648, RefSeq RNA:NM_032272, UniProtKB:Q9H063 No chr8 145159305 145162515 144104279 144107612 +PA134963361 389692 HGNC:23145 ENSG00000182759 MAF bZIP transcription factor A MAFA RIPE3b1 activator, v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A, v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) RIPE3b1, hMafA Yes No Ensembl:ENSG00000182759, GeneCard:MAFA, HGNC:HGNC:23145, ModBase:Q8NHW3, NCBI Gene:389692, OMIM:610303, RefSeq DNA:NT_008046, RefSeq Protein:NP_963883, RefSeq RNA:NM_201589, UniProtKB:Q8NHW3 No chr8 144510230 144512602 143428060 143430432 +PA30535 9935 HGNC:6408 ENSG00000204103 MAF bZIP transcription factor B MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B, v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) KRML Yes Yes Comparative Toxicogenomics Database:9935, Ensembl:ENSG00000204103, GenAtlas:MAFB, GeneCard:MAFB, HGNC:HGNC:6408, ModBase:Q9Y5Q3, NCBI Gene:9935, OMIM:608968, RefSeq DNA:NG_023378, RefSeq DNA:NT_011362, RefSeq Protein:NP_005452, RefSeq RNA:NM_005461, UCSC Genome Browser:NM_005461, UniProtKB:Q9Y5Q3 No chr20 39314488 39317880 40685848 40689240 +PA30538 23764 HGNC:6780 ENSG00000185022 MAF bZIP transcription factor F MAFF Transcription factor MafF, v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F, v-maf musculoaponeurotic fibrosarcoma oncogene homolog F (avian) hMafF Yes No Comparative Toxicogenomics Database:23764, Ensembl:ENSG00000185022, GenAtlas:MAFF, GeneCard:MAFF, HGNC:HGNC:6780, ModBase:Q9ULX9, NCBI Gene:23764, OMIM:604877, RefSeq DNA:NT_011520, RefSeq Protein:NP_001155044, RefSeq Protein:NP_001155045, RefSeq Protein:NP_001155046, RefSeq Protein:NP_036455, RefSeq Protein:NP_690617, RefSeq RNA:NM_001161572, RefSeq RNA:NM_001161573, RefSeq RNA:NM_001161574, RefSeq RNA:NM_012323, RefSeq RNA:NM_152878, UCSC Genome Browser:NM_012323, UniProtKB:B4DV49, UniProtKB:Q9ULX9 No chr22 38597939 38612518 38201932 38216511 +PA30539 4097 HGNC:6781 ENSG00000197063 MAF bZIP transcription factor G MAFG basic leucine zipper transcription factor MafG, transcription factor MafG, v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G, v-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) MGC13090, MGC20149 Yes No Comparative Toxicogenomics Database:4097, Ensembl:ENSG00000197063, GenAtlas:MAFG, GeneCard:MAFG, HGNC:HGNC:6781, ModBase:O15525, NCBI Gene:4097, OMIM:602020, RefSeq DNA:NT_010663, RefSeq Protein:NP_002350, RefSeq Protein:NP_116100, RefSeq RNA:NM_002359, RefSeq RNA:NM_032711, UCSC Genome Browser:NM_002359, UniProtKB:O15525 No chr17 79876145 79885587 81918269 81927711 +PA164722169 727764 HGNC:31102 ENSG00000274847 MAFF interacting protein (pseudogene) MAFIP tektin 4 pseudogene 4 FLJ00219, FLJ35473, FLJ39633, MIP, TEKT4P4, pp5644 Yes No Ensembl:ENSG00000274847, GeneCard:MAFIP, HGNC:HGNC:31102, NCBI Gene:727764, RefSeq DNA:NT_113888, RefSeq Protein:NP_001177754, RefSeq Protein:XP_002344490, RefSeq Protein:XP_002348173, RefSeq RNA:NM_001190825, RefSeq RNA:XM_002344449, RefSeq RNA:XM_002348132 No chr14 53589 115071 53589 115073 +PA30540 7975 HGNC:6782 ENSG00000198517 MAF bZIP transcription factor K MAFK """NF-E2 ubiquitous subunit"", ""Transcription factor MafK"", ""basic-leucine zipper transcription factor MafK"", ""erythroid transcription factor NF-E2 p18 subunit"", ""nuclear factor erythroid-2, ubiquitous (p18)"", ""v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein K"", ""v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K"", ""v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian)""" NFE2U, P18 Yes Yes Comparative Toxicogenomics Database:7975, Ensembl:ENSG00000198517, GenAtlas:MAFK, GeneCard:MAFK, HGNC:HGNC:6782, ModBase:O60675, NCBI Gene:7975, OMIM:600197, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002351, RefSeq RNA:NM_002360, UCSC Genome Browser:NM_002360, UniProtKB:A4D214, UniProtKB:O60675 No chr7 1570368 1582679 1530732 1543043 +PA30541 4099 HGNC:6783 ENSG00000105695 myelin associated glycoprotein MAG sialic acid binding Ig-like lectin 4A GMA, S-MAG, SIGLEC-4A, SIGLEC4, SIGLEC4A Yes No Comparative Toxicogenomics Database:4099, Ensembl:ENSG00000105695, GenAtlas:MAG, GeneCard:MAG, HGNC:HGNC:6783, HumanCyc Gene:HS02794, ModBase:P20916, NCBI Gene:4099, OMIM:159460, RefSeq DNA:NT_011109, RefSeq Protein:NP_001186145, RefSeq Protein:NP_002352, RefSeq Protein:NP_542167, RefSeq RNA:NM_001199216, RefSeq RNA:NM_002361, RefSeq RNA:NM_080600, UCSC Genome Browser:NM_002361, UniProtKB:P20916, UniProtKB:Q15489, UniProtKB:Q567S4 No chr19 35782989 35804710 35292086 35313807 +PA30542 4100 HGNC:6796 ENSG00000198681 MAGE family member A1 MAGEA1 """cancer/testis antigen family 1, member 1"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""melanoma antigen family A, 1 (directs expression of antigen MZ2-E)"", ""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E""" CT1.1, MAGE1, MGC9326 Yes No Ensembl:ENSG00000198681, GenAtlas:MAGEA1, GeneCard:MAGEA1, HGNC:HGNC:6796, HumanCyc Gene:HS05067, ModBase:P43355, NCBI Gene:4100, OMIM:300016, RefSeq DNA:NG_013243, RefSeq DNA:NT_167198, RefSeq Protein:NP_004979, RefSeq RNA:NM_004988, UCSC Genome Browser:NM_004988, UniProtKB:P43355 No chrX 152481522 152486116 153179284 153183878 +PA30543 4109 HGNC:6797 ENSG00000124260 MAGE family member A10 MAGEA10 """MAGE-10 antigen"", ""cancer/testis antigen family 1, member 10"", ""melanoma antigen family A, 10"", ""melanoma-associated antigen 10""" CT1.10, MAGE10, MGC10599 Yes No Ensembl:ENSG00000124260, GenAtlas:MAGEA10, GeneCard:MAGEA10, HGNC:HGNC:6797, HumanCyc Gene:HS04755, ModBase:P43363, NCBI Gene:4109, OMIM:300343, RefSeq DNA:NT_167198, RefSeq Protein:NP_001011543, RefSeq Protein:NP_066386, RefSeq RNA:NM_001011543, RefSeq RNA:NM_021048, UCSC Genome Browser:NM_021048, UniProtKB:P43363 No chrX 151301782 151307050 152133310 152138578 +PA30544 4110 HGNC:6798 ENSG00000185247 MAGE family member A11 MAGEA11 """MAGE-11 antigen"", ""cancer/testis antigen family 1, member 11"", ""melanoma antigen family A, 11"", ""melanoma-associated antigen 11""" CT1.11, MAGE-11, MAGE11, MAGEA-11, MGC10511 Yes No Ensembl:ENSG00000185247, GenAtlas:MAGEA11, GeneCard:MAGEA11, HGNC:HGNC:6798, ModBase:P43364, NCBI Gene:4110, OMIM:300344, RefSeq DNA:NG_012803, RefSeq DNA:NT_011681, RefSeq Protein:NP_001011544, RefSeq Protein:NP_005357, RefSeq RNA:NM_001011544, RefSeq RNA:NM_005366, UCSC Genome Browser:NM_005366, UniProtKB:P43364 No chrX 148769903 148798928 149688202 149717268 +PA30545 4111 HGNC:6799 ENSG00000213401 MAGE family member A12 MAGEA12 """cancer/testis antigen family 1, member 12"", ""melanoma antigen family A, 12""" CT1.12, MAGE12 Yes No Ensembl:ENSG00000213401, GenAtlas:MAGEA12, GeneCard:MAGEA12, HGNC:HGNC:6799, HumanCyc Gene:HS07421, ModBase:P43365, NCBI Gene:4111, OMIM:300177, RefSeq DNA:NG_015852, RefSeq DNA:NT_167198, RefSeq Protein:NP_001159858, RefSeq Protein:NP_001159859, RefSeq Protein:NP_005358, RefSeq RNA:NM_001166386, RefSeq RNA:NM_001166387, RefSeq RNA:NM_005367, UCSC Genome Browser:NM_005367, UniProtKB:P43365, UniProtKB:Q6FHH8 No chrX 151899293 151903184 152733779 152737669 +PA30546 4101 HGNC:6800 ENSG00000183305, ENSG00000184750 MAGE family member A2 MAGEA2 """cancer/testis antigen family 1, member 2"", ""melanoma antigen family A, 2""" CT1.2, MAGE2, MAGEA2A Yes No Ensembl:ENSG00000183305, Ensembl:ENSG00000184750, GenAtlas:MAGEA2, GeneCard:MAGEA2, HGNC:HGNC:6800, NCBI Gene:4101, OMIM:300173, RefSeq DNA:NT_167198, RefSeq Protein:NP_005352, RefSeq Protein:NP_786884, RefSeq Protein:NP_786885, RefSeq RNA:NM_005361, RefSeq RNA:NM_175742, RefSeq RNA:NM_175743, UCSC Genome Browser:NM_005361, UniProtKB:P43356 No chrX 151918387 151922408 152749863 152753942 +PA134906398 266740 HGNC:19340 ENSG00000183305 MAGE family member A2B MAGEA2B melanoma antigen family A, 2B MAGE2, MAGEA2, MAGEA2b, MGC16973 Yes No Ensembl:ENSG00000183305, GeneCard:MAGEA2B, HGNC:HGNC:19340, NCBI Gene:266740, OMIM:300549, RefSeq DNA:NT_167198, RefSeq Protein:NP_705692, RefSeq RNA:NM_153488, UniProtKB:Q96E03 No chrX 151885384 151887080 152714529 152718607 +PA30547 4102 HGNC:6801 ENSG00000221867 MAGE family member A3 MAGEA3 """MAGE-3 antigen"", ""antigen MZ2-D"", ""cancer/testis antigen family 1, member 3"", ""melanoma antigen family A, 3"", ""melanoma-associated antigen 3""" CT1.3, HIP8, HYPD, MAGE3, MGC14613 Yes No Ensembl:ENSG00000221867, GenAtlas:MAGEA3, GeneCard:MAGEA3, HGNC:HGNC:6801, ModBase:P43357, NCBI Gene:4102, OMIM:300174, RefSeq DNA:NG_013244, RefSeq DNA:NT_167198, RefSeq Protein:NP_005353, RefSeq RNA:NM_005362, UCSC Genome Browser:NM_005362, UniProtKB:P43357 No chrX 151934652 151938250 152698742 152702347 +PA30548 4103 HGNC:6802 ENSG00000147381 MAGE family member A4 MAGEA4 """cancer/testis antigen family 1, member 4"", ""melanoma antigen family A, 4"", ""melanoma-associated antigen 4""" CT1.4, MAGE-41, MAGE-X2, MAGE4, MAGE4A, MAGE4B, MGC21336 Yes No Ensembl:ENSG00000147381, GenAtlas:MAGEA4, GeneCard:MAGEA4, HGNC:HGNC:6802, NCBI Gene:4103, OMIM:300175, RefSeq DNA:NG_013245, RefSeq DNA:NT_167198, RefSeq Protein:NP_001011548, RefSeq Protein:NP_001011549, RefSeq Protein:NP_001011550, RefSeq Protein:NP_002353, RefSeq RNA:NM_001011548, RefSeq RNA:NM_001011549, RefSeq RNA:NM_001011550, RefSeq RNA:NM_002362, UCSC Genome Browser:NM_002362, UniProtKB:P43358 No chrX 151080972 151093642 151912889 151925170 +PA30550 4105 HGNC:6804 ENSG00000197172 MAGE family member A6 MAGEA6 """MAGE-6 antigen"", ""cancer/testis antigen family 1, member 6"", ""melanoma antigen family A 6"", ""melanoma antigen family A, 6"", ""melanoma-associated antigen 6""" CT1.6, MAGE-3b, MAGE3B, MAGE6 Yes No Ensembl:ENSG00000197172, GenAtlas:MAGEA6, GeneCard:MAGEA6, HGNC:HGNC:6804, ModBase:P43360, NCBI Gene:4105, OMIM:300176, RefSeq DNA:NT_167198, RefSeq Protein:NP_005354, RefSeq Protein:NP_787064, RefSeq RNA:NM_005363, RefSeq RNA:NM_175868, UCSC Genome Browser:NM_005363, UniProtKB:P43360 No chrX 151867245 151870814 152766136 152769729 +PA30551 4106 HGNC:6805 ENSG00000224732 melanoma antigen family A, 7, pseudogene MAGEA7P Yes No Ensembl:ENSG00000224732, GenAtlas:MAGEA7, GeneCard:MAGEA7P, HGNC:HGNC:6805, NCBI Gene:4106, RefSeq DNA:NG_001156, RefSeq DNA:NT_011681 No chrX 148890201 148890478 149808344 149809010 +PA30552 4107 HGNC:6806 ENSG00000156009 MAGE family member A8 MAGEA8 """MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"", ""melanoma antigen family A, 8""" CT1.8, MAGE8, MGC2182 Yes No Comparative Toxicogenomics Database:4107, Ensembl:ENSG00000156009, GenAtlas:MAGEA8, GeneCard:MAGEA8, HGNC:HGNC:6806, HumanCyc Gene:HS08091, ModBase:P43361, NCBI Gene:4107, OMIM:300341, RefSeq DNA:NG_015868, RefSeq DNA:NT_011681, RefSeq Protein:NP_001159872, RefSeq Protein:NP_001159873, RefSeq Protein:NP_005355, RefSeq RNA:NM_001166400, RefSeq RNA:NM_001166401, RefSeq RNA:NM_005364, UCSC Genome Browser:NM_005364, UniProtKB:B2R9W4, UniProtKB:P43361 No chrX 149009941 149014609 149881141 149885835 +PA30553 4108 HGNC:6807 ENSG00000123584, ENSG00000166008 MAGE family member A9 MAGEA9 """MAGE-9 antigen"", ""cancer/testis antigen family 1, member 9"", ""melanoma antigen family A, 9"", ""melanoma-associated antigen 9""" CT1.9, MAGE9, MGC8421 Yes No Ensembl:ENSG00000123584, Ensembl:ENSG00000166008, GenAtlas:MAGEA9, GeneCard:MAGEA9, HGNC:HGNC:6807, HumanCyc Gene:HS04676, HumanCyc Gene:HS09320, NCBI Gene:4108, OMIM:300342, RefSeq DNA:NT_011681, RefSeq Protein:NP_005356, RefSeq RNA:NM_005365, UCSC Genome Browser:NM_005365 No chrX 148863584 148869399 149781921 149787737 +PA145148473 728269 HGNC:31909 ENSG00000267978 MAGE family member A9B MAGEA9B melanoma antigen family A, 9B Yes No Ensembl:ENSG00000267978, GeneCard:MAGEA9B, HGNC:HGNC:31909, NCBI Gene:728269, OMIM:300764, RefSeq DNA:NT_011681, RefSeq Protein:NP_001074259, RefSeq RNA:NM_001080790, UniProtKB:P43362 No chrX 148663309 148669125 149581653 149587468 +PA30554 4112 HGNC:6808 ENSG00000214107 MAGE family member B1 MAGEB1 """DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"", ""melanoma antigen family B, 1""" CT3.1, DAM10, MAGE-Xp, MAGEL1, MGC9322 Yes No Ensembl:ENSG00000214107, GenAtlas:MAGEB1, GeneCard:MAGEB1, HGNC:HGNC:6808, HumanCyc Gene:HS04387, ModBase:P43366, NCBI Gene:4112, OMIM:300097, RefSeq DNA:NG_016336, RefSeq DNA:NT_167197, RefSeq Protein:NP_002354, RefSeq Protein:NP_796379, RefSeq Protein:NP_803134, RefSeq RNA:NM_002363, RefSeq RNA:NM_177404, RefSeq RNA:NM_177415, UCSC Genome Browser:NM_002363, UniProtKB:P43366 No chrX 30261848 30270155 30243731 30252038 +PA134952121 139422 HGNC:25377 ENSG00000177689 MAGE family member B10 MAGEB10 melanoma antigen family B, 10 FLJ32965 Yes No Ensembl:ENSG00000177689, GeneCard:MAGEB10, HGNC:HGNC:25377, ModBase:Q96LZ2, NCBI Gene:139422, OMIM:300761, RefSeq DNA:NG_017094, RefSeq DNA:NT_167197, RefSeq Protein:NP_872312, RefSeq RNA:NM_182506, UniProtKB:Q96LZ2 No chrX 27826107 27841131 27807990 27823014 +PA134922508 139604 HGNC:21188 ENSG00000189023 MAGE family member B16 MAGEB16 melanoma antigen family B, 16 Yes No Ensembl:ENSG00000189023, GeneCard:MAGEB16, HGNC:HGNC:21188, ModBase:A2A368, NCBI Gene:139604, OMIM:300762, RefSeq DNA:NT_167197, RefSeq Protein:NP_001093391, RefSeq RNA:NM_001099921, UniProtKB:A2A368 No chrX 35816459 35821852 35798317 35803753 +PA134872991 645864 HGNC:17418 ENSG00000182798 MAGE family member B17 MAGEB17 melanoma antigen family B, 17 Yes No Ensembl:ENSG00000182798, GeneCard:MAGEB17, HGNC:HGNC:17418, NCBI Gene:645864, OMIM:300763, RefSeq DNA:NT_167197, RefSeq Protein:XP_001130425, RefSeq Protein:XP_001719446, RefSeq Protein:XP_003119241, RefSeq Protein:XP_947659, RefSeq RNA:XM_001130425, RefSeq RNA:XM_001719394, RefSeq RNA:XM_003119193, RefSeq RNA:XM_942566, UniProtKB:A8MXT2 No chrX 16185604 16189516 16167481 16172394 +PA142671483 286514 HGNC:28515 ENSG00000176774 MAGE family member B18 MAGEB18 melanoma antigen family B, 18 MGC33889 Yes No Comparative Toxicogenomics Database:286514, Ensembl:ENSG00000176774, GeneCard:MAGEB18, HGNC:HGNC:28515, HumanCyc Gene:HS16725, ModBase:Q96M61, NCBI Gene:286514, RefSeq DNA:NG_016370, RefSeq DNA:NT_167197, RefSeq Protein:NP_775970, RefSeq RNA:NM_173699, UniProtKB:Q96M61 No chrX 26156460 26158853 26138343 26140736 +PA30555 4113 HGNC:6809 ENSG00000099399 MAGE family member B2 MAGEB2 """DSS/AHC critical interval MAGE superfamily 6"", ""cancer/testis antigen family 3, member 2"", ""melanoma antigen family B, 2"", ""melanoma-associated antigen B2""" CT3.2, DAM6, MAGE-XP-2, MGC26438 Yes No Ensembl:ENSG00000099399, GenAtlas:MAGEB2, GeneCard:MAGEB2, HGNC:HGNC:6809, HumanCyc Gene:HS01897, ModBase:O15479, NCBI Gene:4113, OMIM:300098, RefSeq DNA:NG_013246, RefSeq DNA:NT_167197, RefSeq Protein:NP_002355, RefSeq Protein:XP_002346333, RefSeq RNA:NM_002364, RefSeq RNA:XM_002346292, UCSC Genome Browser:NM_002364, UniProtKB:O15479, UniProtKB:Q53G50 No chrX 30233675 30238206 30215558 30220089 +PA30556 4114 HGNC:6810 ENSG00000198798 MAGE family member B3 MAGEB3 """cancer/testis antigen family 3, member 5"", ""melanoma antigen family B, 3""" CT3.5 Yes No Ensembl:ENSG00000198798, GenAtlas:MAGEB3, GeneCard:MAGEB3, HGNC:HGNC:6810, NCBI Gene:4114, OMIM:300152, RefSeq DNA:NG_015869, RefSeq DNA:NT_167197, RefSeq Protein:NP_002356, RefSeq RNA:NM_002365, UCSC Genome Browser:NM_002365, UniProtKB:O15480 No chrX 30248553 30255612 30230436 30237493 +PA30557 4115 HGNC:6811 ENSG00000120289 MAGE family member B4 MAGEB4 """cancer/testis antigen family 3, member 6"", ""melanoma antigen family B, 4"", ""melanoma-associated antigen B4""" CT3.6, MGC33144 Yes No Comparative Toxicogenomics Database:4115, Ensembl:ENSG00000120289, GenAtlas:MAGEB4, GeneCard:MAGEB4, HGNC:HGNC:6811, ModBase:O15481, NCBI Gene:4115, OMIM:300153, RefSeq DNA:NG_015870, RefSeq DNA:NT_167197, RefSeq Protein:NP_002358, RefSeq RNA:NM_002367, UCSC Genome Browser:NM_002367, UniProtKB:O15481 No chrX 30260057 30262310 30241940 30244193 +PA134913823 347541 HGNC:23795 ENSG00000188408 MAGE family member B5 MAGEB5 """cancer/testis antigen family 3, member 3"", ""melanoma antigen family B, 5""" CT3.3, MAGE-B5 Yes No Ensembl:ENSG00000188408, GeneCard:MAGEB5, HGNC:HGNC:23795, NCBI Gene:347541, OMIM:300466, RefSeq DNA:NT_167197, RefSeq Protein:XP_001715207, RefSeq Protein:XP_293407, RefSeq Protein:XP_947707, RefSeq RNA:XM_001715155, RefSeq RNA:XM_293407, RefSeq RNA:XM_942614 No chrX 26234286 26236387 26216169 26218270 +PA134864191 158809 HGNC:23796 ENSG00000176746 MAGE family member B6 MAGEB6 """cancer/testis antigen family 3, member 4"", ""melanoma antigen family B, 6""" CT3.4, FLJ40242, MAGE-B6, MAGEB6A Yes No Ensembl:ENSG00000176746, GeneCard:MAGEB6, HGNC:HGNC:23796, HumanCyc Gene:HS16719, ModBase:Q8N7X4, NCBI Gene:158809, OMIM:300467, RefSeq DNA:NG_013247, RefSeq DNA:NT_167197, RefSeq Protein:NP_775794, RefSeq RNA:NM_173523, UniProtKB:Q8N7X4 No chrX 26210557 26213763 26192440 26195646 +PA166351949 392433 HGNC:28824 MAGE family member B6B MAGEB6B MAGEB6P1 Yes No HGNC:HGNC:28824, NCBI Gene:392433 No 0 0 0 0 +PA30558 9947 HGNC:6812 ENSG00000155495 MAGE family member C1 MAGEC1 """cancer/testis antigen family 7, member 1"", ""melanoma antigen family C, 1""" CT7, CT7.1, MAGE-C1, MGC39366 Yes No Ensembl:ENSG00000155495, GenAtlas:MAGEC1, GeneCard:MAGEC1, HGNC:HGNC:6812, HumanCyc Gene:HS08053, ModBase:O60732, NCBI Gene:9947, OMIM:300223, RefSeq DNA:NG_015871, RefSeq DNA:NT_011786, RefSeq Protein:NP_005453, RefSeq RNA:NM_005462, UCSC Genome Browser:NM_005462, UniProtKB:O60732 No chrX 140991642 140997187 141903856 141909401 +PA134954317 51438 HGNC:13574 ENSG00000046774 MAGE family member C2 MAGEC2 """cancer/testis antigen 10"", ""melanoma antigen family C, 2""" CT10, HCA587, MAGE-C2, MAGEE1 Yes No Ensembl:ENSG00000046774, GeneCard:MAGEC2, HGNC:HGNC:13574, HumanCyc Gene:HS00583, ModBase:Q9UBF1, NCBI Gene:51438, OMIM:300468, RefSeq DNA:NG_015872, RefSeq DNA:NT_011786, RefSeq Protein:NP_057333, RefSeq RNA:NM_016249, UniProtKB:Q9UBF1 No chrX 141290128 141293076 142202342 142205290 +PA134916199 139081 HGNC:23798 ENSG00000165509 MAGE family member C3 MAGEC3 """cancer/testis antigen family 7, member 2"", ""melanoma antigen family C, 3""" CT7.2, HCA2, MAGE-C3 Yes No Ensembl:ENSG00000165509, GeneCard:MAGEC3, HGNC:HGNC:23798, HumanCyc Gene:HS15334, ModBase:Q8TD91, NCBI Gene:139081, OMIM:300469, RefSeq DNA:NG_013272, RefSeq DNA:NT_011786, RefSeq Protein:NP_619647, RefSeq Protein:NP_803251, RefSeq RNA:NM_138702, RefSeq RNA:NM_177456, UniProtKB:Q3SYA7, UniProtKB:Q8TD91 No chrX 140926102 140985618 141838316 141897832 +PA30559 9500 HGNC:6813 ENSG00000179222 MAGE family member D1 MAGED1 melanoma antigen family D, 1 DLXIN-1, NRAGE Yes No Comparative Toxicogenomics Database:9500, Ensembl:ENSG00000179222, GenAtlas:MAGED1, GeneCard:MAGED1, HGNC:HGNC:6813, HumanCyc Gene:HS11362, ModBase:Q9Y5V3, NCBI Gene:9500, OMIM:300224, RefSeq DNA:NG_012559, RefSeq DNA:NT_011638, RefSeq Protein:NP_001005332, RefSeq Protein:NP_001005333, RefSeq Protein:NP_008917, RefSeq RNA:NM_001005332, RefSeq RNA:NM_001005333, RefSeq RNA:NM_006986, UCSC Genome Browser:NM_006986, UniProtKB:Q9Y5V3 No chrX 51546155 51645450 51802998 51902354 +PA30560 10916 HGNC:16353 ENSG00000102316 MAGE family member D2 MAGED2 """breast cancer associated gene 1"", ""hepatocellular carcinoma associated protein"", ""hepatocellular carcinoma-associated protein HCA10"", ""melanoma antigen family D, 2"", ""melanoma-associated antigen D2""" 11B6, BCG1, HCA10, JCL-1, MAGE-D2, MAGED, MGC8386 Yes No Comparative Toxicogenomics Database:10916, Ensembl:ENSG00000102316, GenAtlas:MAGED2, GeneCard:MAGED2, HGNC:HGNC:16353, HumanCyc Gene:HS12480, ModBase:Q9UNF1, NCBI Gene:10916, OMIM:300470, RefSeq DNA:NG_012844, RefSeq DNA:NT_011630, RefSeq Protein:NP_055414, RefSeq Protein:NP_803182, RefSeq Protein:NP_957516, RefSeq RNA:NM_014599, RefSeq RNA:NM_177433, RefSeq RNA:NM_201222, UCSC Genome Browser:NM_014599, UniProtKB:Q9UNF1 No chrX 54834131 54842445 54807599 54816015 +PA134957670 728239 HGNC:23793 ENSG00000154545, ENSG00000187243 MAGE family member D4 MAGED4 melanoma antigen family D, 4 KIAA1859, MAGE-E1, MAGE1, MGC3210 Yes No Ensembl:ENSG00000154545, Ensembl:ENSG00000187243, GeneCard:MAGED4, HGNC:HGNC:23793, NCBI Gene:728239, OMIM:300702, RefSeq DNA:NT_011638, RefSeq Protein:NP_001092270, RefSeq RNA:NM_001098800 No chrX 51927919 51935364 52184823 52192268 +PA145148472 81557 HGNC:22880 ENSG00000187243 MAGE family member D4B MAGED4B melanoma antigen family D, 4B Yes No Ensembl:ENSG00000187243, GeneCard:MAGED4B, HGNC:HGNC:22880, HumanCyc Gene:HS14528, ModBase:Q9H217, NCBI Gene:81557, OMIM:300765, RefSeq DNA:NT_011638, RefSeq Protein:NP_001229291, RefSeq Protein:NP_110428, RefSeq Protein:NP_803879, RefSeq Protein:NP_803881, RefSeq RNA:NM_001242362, RefSeq RNA:NM_030801, RefSeq RNA:NM_177535, RefSeq RNA:NM_177537, UniProtKB:Q96JG8 No chrX 51804923 51812368 52061827 52069272 +PA164741999 57692 HGNC:24934 ENSG00000198934 MAGE family member E1 MAGEE1 melanoma antigen family E, 1 DAMAGE, KIAA1587 Yes No Ensembl:ENSG00000198934, GeneCard:MAGEE1, HGNC:HGNC:24934, ModBase:Q9HCI5, NCBI Gene:57692, OMIM:300759, RefSeq DNA:NG_016774, RefSeq DNA:NT_011669, RefSeq Protein:NP_065983, RefSeq RNA:NM_020932, UniProtKB:Q5JXC7, UniProtKB:Q9HCI5 No chrX 75648046 75651746 76427653 76431353 +PA134923697 139599 HGNC:24935 ENSG00000186675 MAGE family member E2 MAGEE2 """Hepatocellular carcinoma-associated protein 3"", ""Melanoma-associated antigen E2"", ""melanoma antigen family E, 2""" HCA3 Yes No Ensembl:ENSG00000186675, GeneCard:MAGEE2, HGNC:HGNC:24935, ModBase:Q8TD90, NCBI Gene:139599, OMIM:300760, RefSeq DNA:NG_021324, RefSeq DNA:NT_011669, RefSeq Protein:NP_619648, RefSeq RNA:NM_138703, UniProtKB:Q8TD90 No chrX 75002823 75005079 75782988 75785244 +PA134920978 64110 HGNC:29639 ENSG00000177383 MAGE family member F1 MAGEF1 melanoma antigen family F, 1 Yes No Ensembl:ENSG00000177383, GeneCard:MAGEF1, HGNC:HGNC:29639, HumanCyc Gene:HS16846, NCBI Gene:64110, OMIM:609267, RefSeq DNA:NT_005612, RefSeq Protein:NP_071432, RefSeq RNA:NM_022149, UniProtKB:Q9HAY2 No chr3 184428155 184429836 184710367 184712048 +PA128394650 28986 HGNC:24092 ENSG00000187601 MAGE family member H1 MAGEH1 melanoma antigen family H, 1 APR1 Yes No Ensembl:ENSG00000187601, GeneCard:MAGEH1, HGNC:HGNC:24092, ModBase:Q9H213, NCBI Gene:28986, OMIM:300548, RefSeq DNA:NG_013248, RefSeq DNA:NT_011630, RefSeq Protein:NP_054780, RefSeq RNA:NM_014061, UCSC Genome Browser:NM_014061, UniProtKB:Q9H213 No chrX 55478538 55479999 55452089 55453568 +PA30562 54551 HGNC:6814 ENSG00000254585 MAGE family member L2 MAGEL2 MAGE-like 2 NDNL1, nM15 Yes No Ensembl:ENSG00000254585, GenAtlas:MAGEL2, GeneCard:MAGEL2, HGNC:HGNC:6814, HumanCyc Gene:HS11383, NCBI Gene:54551, OMIM:605283, RefSeq DNA:NG_016776, RefSeq DNA:NT_026446, RefSeq Protein:NP_061939, RefSeq RNA:NM_019066, UCSC Genome Browser:NM_019066 No chr15 23888696 23892993 23643549 23647846 +PA164742006 9223 HGNC:946 ENSG00000151276 membrane associated guanylate kinase, WW and PDZ domain containing 1 MAGI1 AIP3, BAIAP1, BAP1, MAGI-1, TNRC19, WWP3 Yes No Ensembl:ENSG00000151276, GeneCard:MAGI1, HGNC:HGNC:946, HumanCyc Gene:HS07719, ModBase:Q96QZ7, NCBI Gene:9223, OMIM:602625, RefSeq DNA:NT_022517, RefSeq Protein:NP_001028229, RefSeq Protein:NP_004733, RefSeq Protein:NP_056335, RefSeq RNA:NM_001033057, RefSeq RNA:NM_004742, RefSeq RNA:NM_015520, UniProtKB:Q96QZ7 No chr3 65339200 66024511 65353525 66038836 +PA142671484 9863 HGNC:18957 ENSG00000187391 membrane associated guanylate kinase, WW and PDZ domain containing 2 MAGI2 activin receptor-interacting protein 1 ACVRIP1, AIP1, ARIP1, KIAA0705, MAGI-2 Yes No Ensembl:ENSG00000187391, GeneCard:MAGI2, HGNC:HGNC:18957, HumanCyc Gene:HS08054, ModBase:Q9UDU1, NCBI Gene:9863, OMIM:606382, RefSeq DNA:NG_011487, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_036433, RefSeq RNA:NM_012301, UniProtKB:Q86UL8 No chr7 77646374 79083121 78017055 79453805 +PA142671485 260425 HGNC:29647 ENSG00000081026 membrane associated guanylate kinase, WW and PDZ domain containing 3 MAGI3 MAGI-3 Yes No Comparative Toxicogenomics Database:260425, Ensembl:ENSG00000081026, GeneCard:MAGI3, HGNC:HGNC:29647, HumanCyc Gene:HS01379, NCBI Gene:260425, RefSeq DNA:NT_032977, RefSeq Protein:NP_001136254, RefSeq Protein:NP_690864, RefSeq RNA:NM_001142782, RefSeq RNA:NM_152900, UniProtKB:Q5TCQ9 No chr1 113933087 114228545 113390474 113685923 +PA162394882 79917 HGNC:30006 ENSG00000269313 MAGI family member, X-linked MAGIX FLJ21687, JM10, PDZX Yes No Ensembl:ENSG00000269313, GeneCard:MAGIX, HGNC:HGNC:30006, HumanCyc Gene:HS00383, NCBI Gene:79917, RefSeq DNA:NT_079573, RefSeq Protein:NP_001093150, RefSeq Protein:NP_001093151, RefSeq Protein:NP_001093152, RefSeq Protein:NP_079135, RefSeq RNA:NM_001099680, RefSeq RNA:NM_001099681, RefSeq RNA:NM_001099682, RefSeq RNA:NM_024859, UniProtKB:Q9H6Y5 No chrX 49019181 49023836 49162569 49168157 +PA30563 4116 HGNC:6815 ENSG00000162385 mago homolog, exon junction complex subunit MAGOH mago-nashi homolog, proliferation-associated (Drosophila) MAGOH1, MAGOHA Yes No Comparative Toxicogenomics Database:4116, Ensembl:ENSG00000162385, GenAtlas:MAGOH, GeneCard:MAGOH, HGNC:HGNC:6815, HumanCyc Gene:HS08666, ModBase:P61326, NCBI Gene:4116, OMIM:602603, RefSeq DNA:NT_032977, RefSeq Protein:NP_002361, RefSeq RNA:NM_002370, UCSC Genome Browser:NM_002370, UniProtKB:P61326 No chr1 53692564 53704282 53226892 53238610 +PA134933954 90352 HGNC:20020 ENSG00000270975 mago-nashi homolog 2, proliferation-associated (Drosophila), pseudogene MAGOH3P MAGOHP1 Yes No Ensembl:ENSG00000270975, HGNC:HGNC:20020, NCBI Gene:90352, RefSeq DNA:NG_002581, RefSeq DNA:NT_026437 No chr14 69328440 69329510 68861725 68862793 +PA162394899 55110 HGNC:25504 ENSG00000111196 mago homolog B, exon junction complex subunit MAGOHB mago-nashi homolog B (Drosophila) FLJ10292, MGN2 Yes No Ensembl:ENSG00000111196, GeneCard:MAGOHB, HGNC:HGNC:25504, HumanCyc Gene:HS03376, NCBI Gene:55110, RefSeq DNA:NT_009714, RefSeq Protein:NP_060518, RefSeq RNA:NM_018048, UniProtKB:Q96A72 No chr12 10756364 10766208 10604190 10613609 +PA162394900 84061 HGNC:28880 ENSG00000102158 magnesium transporter 1 MAGT1 oligosaccharyltransferase 3 homolog B (S. cerevisiae) DKFZp564K142, IAP, MRX95, OST3B, SLC58A1 Yes No Ensembl:ENSG00000102158, GeneCard:MAGT1, HGNC:HGNC:28880, HumanCyc Gene:HS02361, ModBase:Q9H0U3, NCBI Gene:84061, OMIM:300715, OMIM:300716, RefSeq DNA:NG_016390, RefSeq DNA:NT_011651, RefSeq Protein:NP_115497, RefSeq RNA:NM_032121, UniProtKB:Q9H0U3 No chrX 77081861 77151090 77826364 77895568 +PA162379149 79568 HGNC:26198 ENSG00000162972 matrix AAA peptidase interacting protein 1 MAIP1 chromosome 2 open reading frame 47 C2orf47, DKFZp666A212, FLJ22555 Yes No Ensembl:ENSG00000162972, GeneCard:C2orf47, HGNC:HGNC:26198, HumanCyc Gene:HS14996, ModBase:Q8WWC4, NCBI Gene:79568, RefSeq DNA:NT_005403, RefSeq Protein:NP_078796, RefSeq RNA:NM_024520, UniProtKB:Q8WWC4 No chr2 200820040 200828848 199955317 199964125 +PA162377786 283129 HGNC:27441 ENSG00000168070 membrane anchored junction protein MAJIN chromosome 11 open reading frame 85 C11orf85 Yes No Ensembl:ENSG00000168070, GeneCard:C11orf85, HGNC:HGNC:27441, NCBI Gene:283129, RefSeq DNA:NT_167190, RefSeq Protein:NP_001032302, RefSeq RNA:NM_001037225, UniProtKB:Q3KP22 No chr11 64705702 64739565 64938230 64972104 +PA30564 4117 HGNC:6816 ENSG00000111837 male germ cell associated kinase MAK male germ cell-associated kinase RP62, dJ417M14.2 Yes No Comparative Toxicogenomics Database:4117, Ensembl:ENSG00000111837, GenAtlas:MAK, GeneCard:MAK, HGNC:HGNC:6816, HumanCyc Gene:HS03473, ModBase:P20794, NCBI Gene:4117, OMIM:154235, RefSeq DNA:NT_007592, RefSeq Protein:NP_001229314, RefSeq Protein:NP_005897, RefSeq RNA:NM_001242385, RefSeq RNA:NM_005906, UCSC Genome Browser:NM_005906, UniProtKB:P20794, UniProtKB:Q547D0 No chr6 10762956 10838788 10762723 10838954 +PA162394925 84549 HGNC:13703 ENSG00000198042 MAK16 homolog MAK16 MAK16 homolog (S. cerevisiae) MAK16L, RBM13 Yes No Ensembl:ENSG00000198042, GeneCard:MAK16, HGNC:HGNC:13703, ModBase:Q9BXY0, NCBI Gene:84549, RefSeq DNA:NT_167187, RefSeq Protein:NP_115898, RefSeq RNA:NM_032509, UniProtKB:Q9BXY0 No chr8 33342685 33358778 33485167 33501260 +PA30565 4118 HGNC:6817 ENSG00000172005 mal, T cell differentiation protein MAL """MyD88-adapter-like"", ""mal, T-cell differentiation protein"", ""myelin and lymphocyte protein""" MVP17, VIP17 Yes No Comparative Toxicogenomics Database:4118, Ensembl:ENSG00000172005, GenAtlas:MAL, GeneCard:MAL, HGNC:HGNC:6817, HumanCyc Gene:HS10430, ModBase:P21145, NCBI Gene:4118, OMIM:188860, RefSeq DNA:NT_022171, RefSeq Protein:NP_002362, RefSeq Protein:NP_071883, RefSeq Protein:NP_071884, RefSeq Protein:NP_071885, RefSeq RNA:NM_002371, RefSeq RNA:NM_022438, RefSeq RNA:NM_022439, RefSeq RNA:NM_022440, UCSC Genome Browser:NM_002371, UniProtKB:P21145, UniProtKB:Q6FH77 No chr2 95691400 95719737 95025655 95053992 +PA30566 114569 HGNC:13634 ENSG00000147676 mal, T cell differentiation protein 2 MAL2 """MAL proteolipid protein 2"", ""mal, T cell differentiation protein 2 (gene/pseudogene)"", ""mal, T-cell differentiation protein 2 (gene/pseudogene)"", ""myelin and lymphocyte protein 2""" Yes No Comparative Toxicogenomics Database:114569, Ensembl:ENSG00000147676, GenAtlas:MAL2, GeneCard:MAL2, HGNC:HGNC:13634, HumanCyc Gene:HS07464, NCBI Gene:114569, OMIM:609684, RefSeq DNA:NT_008046, RefSeq Protein:NP_443118, RefSeq RNA:NM_052886, UCSC Genome Browser:NM_052886, UniProtKB:Q969L2 No chr8 120220610 120257913 119208371 119245673 +PA134935778 378938 HGNC:29665 ENSG00000251562 metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) MALAT1 hepcarcin, long intergenic non-protein coding RNA 47, metastasis associated in lung adenocarcinoma transcript 1, non-protein coding RNA 47, nuclear enriched abundant transcript 2, nuclear paraspeckle assembly transcript 2 (non-protein coding) HCN, LINC00047, MALAT-1, NCRNA00047, NEAT2, PRO1073 Yes Yes Ensembl:ENSG00000251562, GeneCard:MALAT1, HGNC:HGNC:29665, NCBI Gene:378938, OMIM:607924, RefSeq DNA:NT_167190, RefSeq RNA:NR_002819 No chr11 65265224 65273940 65497679 65504494 +PA30567 7851 HGNC:6818 ENSG00000144063 mal, T cell differentiation protein like MALL mal, T-cell differentiation protein-like BENE Yes No Comparative Toxicogenomics Database:7851, Ensembl:ENSG00000144063, GenAtlas:MALL, GeneCard:MALL, HGNC:HGNC:6818, HumanCyc Gene:HS07146, ModBase:Q13021, NCBI Gene:7851, OMIM:602022, RefSeq DNA:NT_022135, RefSeq Protein:NP_005425, RefSeq RNA:NM_005434, UniProtKB:Q13021 No chr2 110841447 110874143 110083870 110118139 +PA134958320 340895 HGNC:24331 ENSG00000204740 MAM and LDL receptor class A domain containing 1 MALRD1 chromosome 10 open reading frame 112 C10orf112, Diet1, bA265G8.2 Yes No Ensembl:ENSG00000204740, GeneCard:C10orf112, HGNC:HGNC:24331, NCBI Gene:340895, RefSeq DNA:NT_008705, RefSeq Protein:XP_001716895, RefSeq Protein:XP_295865, RefSeq Protein:XP_944452, RefSeq RNA:XM_001716843, RefSeq RNA:XM_295865, RefSeq RNA:XM_939359 No chr10 19337700 20023407 19046931 19734478 +PA134866345 115416 HGNC:21721 ENSG00000156928 mitochondrial assembly of ribosomal large subunit 1 MALSU1 C7orf30, mtRsfA Yes No Ensembl:ENSG00000156928, GeneCard:C7orf30, HGNC:HGNC:21721, HumanCyc Gene:HS08160, ModBase:Q96EH3, NCBI Gene:115416, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_612455, RefSeq RNA:NM_138446, UniProtKB:A4D154, UniProtKB:Q96EH3 No chr7 23338940 23349180 23298744 23309573 +PA30568 10892 HGNC:6819 ENSG00000172175 MALT1 paracaspase MALT1 MALT1 protease, mucosa associated lymphoid tissue lymphoma translocation gene 1, paracaspase, paracaspase 1 MLT, PCASP1 Yes No Comparative Toxicogenomics Database:10892, Ensembl:ENSG00000172175, GenAtlas:MALT1, GeneCard:MALT1, HGNC:HGNC:6819, HumanCyc Gene:HS10463, ModBase:Q9UDY8, NCBI Gene:10892, OMIM:604860, RefSeq DNA:NT_025028, RefSeq Protein:NP_006776, RefSeq Protein:NP_776216, RefSeq RNA:NM_006785, RefSeq RNA:NM_173844, UCSC Genome Browser:NM_006785, UniProtKB:Q9UDY8 No chr18 56338618 56417371 58671386 58753806 +PA134944739 256691 HGNC:23673 ENSG00000165072 MAM domain containing 2 MAMDC2 MGC21981 Yes No Comparative Toxicogenomics Database:256691, Ensembl:ENSG00000165072, GeneCard:MAMDC2, HGNC:HGNC:23673, HumanCyc Gene:HS09180, ModBase:Q7Z304, NCBI Gene:256691, OMIM:612879, RefSeq DNA:NT_008470, RefSeq Protein:NP_694999, RefSeq RNA:NM_153267, UniProtKB:Q7Z304 No chr9 72658435 72841899 70043519 70226972 +PA142671487 158056 HGNC:24083 ENSG00000177943 MAM domain containing 4 MAMDC4 apical early endosomal glycoprotein precursor, endotubin AEGP, DKFZp434M1411, EDTB Yes No Ensembl:ENSG00000177943, GeneCard:MAMDC4, HGNC:HGNC:24083, NCBI Gene:158056, RefSeq DNA:NT_024000, RefSeq Protein:NP_996803, RefSeq RNA:NM_206920, UniProtKB:Q6UXC1 No chr9 139746819 139755251 136852367 136860799 +PA30569 9794 HGNC:13632 ENSG00000161021 mastermind like transcriptional coactivator 1 MAML1 mastermind homolog, mastermind-like 1 (Drosophila) KIAA0200, Mam-1 Yes No Comparative Toxicogenomics Database:9794, Ensembl:ENSG00000161021, GenAtlas:MAML1, GeneCard:MAML1, HGNC:HGNC:13632, HumanCyc Gene:HS14845, ModBase:Q92585, NCBI Gene:9794, OMIM:605424, RefSeq DNA:NT_023133, RefSeq Protein:NP_055572, RefSeq RNA:NM_014757, UCSC Genome Browser:NM_014757, UniProtKB:Q92585 No chr5 179159833 179208035 179732850 179777286 +PA134946327 84441 HGNC:16259 ENSG00000184384 mastermind like transcriptional coactivator 2 MAML2 mastermind-like 2 (Drosophila) KIAA1819, MAM3 Yes No Ensembl:ENSG00000184384, GeneCard:MAML2, HGNC:HGNC:16259, ModBase:Q8IZL2, NCBI Gene:84441, OMIM:607537, RefSeq DNA:NT_167190, RefSeq Protein:NP_115803, RefSeq RNA:NM_032427, UniProtKB:Q8IZL2 No chr11 95711440 96076344 95976593 96343245 +PA134953776 55534 HGNC:16272 ENSG00000196782 mastermind like transcriptional coactivator 3 MAML3 mastermind (drosophila)-like 3, mastermind-like 3 (Drosophila) CAGH3, GDN, KIAA1816, MAM2, TNRC3 Yes Yes Comparative Toxicogenomics Database:55534, Ensembl:ENSG00000196782, GeneCard:MAML3, HGNC:HGNC:16272, NCBI Gene:55534, OMIM:608991, RefSeq DNA:NT_016354, RefSeq Protein:NP_061187, RefSeq RNA:NM_018717, UniProtKB:Q96JK9, UniProtKB:Q9NPV6 No chr4 140637545 141075233 139716391 140154079 +PA162394950 10046 HGNC:2568 ENSG00000013619 mastermind like domain containing 1 MAMLD1 mastermind-like domain containing 1 CG1, CXorf6, F18 Yes No Ensembl:ENSG00000013619, GeneCard:MAMLD1, HGNC:HGNC:2568, HumanCyc Gene:HS00354, ModBase:Q13495, NCBI Gene:10046, OMIM:300120, OMIM:300633, OMIM:300758, RefSeq DNA:NG_017093, RefSeq DNA:NT_167198, RefSeq Protein:NP_001170936, RefSeq Protein:NP_001170937, RefSeq Protein:NP_005482, RefSeq RNA:NM_001177465, RefSeq RNA:NM_001177466, RefSeq RNA:NM_005491, UniProtKB:B9ZVX5, UniProtKB:Q13495 No chrX 149529836 149682448 150361422 150514178 +PA165393645 284358 HGNC:26689 ENSG00000176909 MEF2 activating motif and SAP domain containing transcriptional regulator MAMSTR MEF2-activating SAP transcriptional regulator FLJ36070, MASTR Yes No Ensembl:ENSG00000176909, GeneCard:MAMSTR, HGNC:HGNC:26689, NCBI Gene:284358, OMIM:610349, RefSeq DNA:NT_011109, RefSeq Protein:NP_001124387, RefSeq Protein:NP_872380, RefSeq RNA:NM_001130915, RefSeq RNA:NM_182574, UniProtKB:Q6ZN01 No chr19 49215999 49222976 48705718 48719898 +PA30570 4121 HGNC:6821 ENSG00000111885 mannosidase alpha class 1A member 1 MAN1A1 mannosidase, alpha, class 1A, member 1 Yes Yes Comparative Toxicogenomics Database:4121, Ensembl:ENSG00000111885, GenAtlas:MAN1A1, GeneCard:MAN1A1, HGNC:HGNC:6821, HumanCyc Gene:HS03480, ModBase:P33908, NCBI Gene:4121, OMIM:604344, RefSeq DNA:NT_025741, RefSeq Protein:NP_005898, RefSeq RNA:NM_005907, UCSC Genome Browser:NM_005907, UniProtKB:P33908 No chr6 119498366 119671774 119177201 119350619 +PA30571 10905 HGNC:6822 ENSG00000198162 mannosidase alpha class 1A member 2 MAN1A2 mannosidase, alpha, class 1A, member 2 MAN1B Yes No Comparative Toxicogenomics Database:10905, Ensembl:ENSG00000198162, GenAtlas:MAN1A2, GeneCard:MAN1A2, HGNC:HGNC:6822, HumanCyc Gene:HS05846, ModBase:O60476, NCBI Gene:10905, OMIM:604345, RefSeq DNA:NT_032977, RefSeq Protein:NP_006690, RefSeq RNA:NM_006699, UCSC Genome Browser:NM_006699, UniProtKB:O60476 No chr1 117910085 118068320 117367393 117528872 +PA30572 11253 HGNC:6823 ENSG00000177239 mannosidase alpha class 1B member 1 MAN1B1 """ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"", ""alpha 1,2-mannosidase"", ""endoplasmic Reticulum Class I alpha-mannosidase"", ""endoplasmic reticulum alpha-mannosidase 1"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""mannosidase, alpha, class 1B, member 1""" ERMan1, ERManI, MANA-ER, MRT15 Yes Yes Comparative Toxicogenomics Database:11253, Ensembl:ENSG00000177239, GenAtlas:MAN1B1, GeneCard:MAN1B1, HGNC:HGNC:6823, HumanCyc Gene:HS11144, ModBase:Q9UKM7, NCBI Gene:11253, OMIM:604346, RefSeq DNA:NT_024000, RefSeq Protein:NP_057303, RefSeq RNA:NM_016219, UCSC Genome Browser:NM_007230, UniProtKB:Q9UKM7 No chr9 139981379 140003639 137086862 137109187 +PA38788 57134 HGNC:19080 ENSG00000117643 mannosidase alpha class 1C member 1 MAN1C1 mannosidase, alpha, class 1C, member 1 HMIC Yes No Comparative Toxicogenomics Database:57134, Ensembl:ENSG00000117643, GenAtlas:MAN1C1, GeneCard:MAN1C1, HGNC:HGNC:19080, HumanCyc Gene:HS04162, ModBase:Q9NR34, NCBI Gene:57134, RefSeq DNA:NT_004610, RefSeq Protein:NP_065112, RefSeq RNA:NM_020379, UCSC Genome Browser:NM_020379, UniProtKB:Q9NR34 No chr1 25943959 26111258 25616820 25786207 +PA30573 4124 HGNC:6824 ENSG00000112893 mannosidase alpha class 2A member 1 MAN2A1 """Alpha-mannosidase 2"", ""golgi integral membrane protein 7"", ""mannosidase, alpha, class 2A, member 1""" GOLIM7, MANA2, MANII Yes No Comparative Toxicogenomics Database:4124, Ensembl:ENSG00000112893, GenAtlas:MAN2A1, GeneCard:MAN2A1, HGNC:HGNC:6824, HumanCyc Gene:HS03629, ModBase:Q16706, NCBI Gene:4124, OMIM:154582, RefSeq DNA:NT_034772, RefSeq Protein:NP_002363, RefSeq RNA:NM_002372, UCSC Genome Browser:NM_002372, UniProtKB:Q16706, UniProtKB:Q49A69 No chr5 109025156 109203429 109689366 109869625 +PA30574 4122 HGNC:6825 ENSG00000196547 mannosidase alpha class 2A member 2 MAN2A2 """Alpha-mannosidase 2x"", ""alpha-mannosidase IIx"", ""mannosidase, alpha, class 2A, member 2""" HsT19662, MANA2X, alpha-MIIx Yes No Comparative Toxicogenomics Database:4122, Ensembl:ENSG00000196547, GenAtlas:MAN2A2, GeneCard:MAN2A2, HGNC:HGNC:6825, HumanCyc Gene:HS11961, ModBase:P49641, NCBI Gene:4122, OMIM:600988, RefSeq DNA:NT_010274, RefSeq Protein:NP_006113, RefSeq RNA:NM_006122, UCSC Genome Browser:NM_006122, UniProtKB:P49641 No chr15 91447420 91465815 90902218 90922585 +PA30575 4125 HGNC:6826 ENSG00000104774 mannosidase alpha class 2B member 1 MAN2B1 """lysosomal alpha-mannosidase"", ""mannosidase, alpha, class 2B, member 1""" LAMAN, MANB Yes No Comparative Toxicogenomics Database:4125, Ensembl:ENSG00000104774, GenAtlas:MAN2B1, GeneCard:MAN2B1, HGNC:HGNC:6826, HumanCyc Gene:HS02616, ModBase:O00754, NCBI Gene:4125, OMIM:248500, OMIM:609458, RefSeq DNA:NG_008318, RefSeq DNA:NT_011295, RefSeq Protein:NP_000519, RefSeq Protein:NP_001166969, RefSeq RNA:NM_000528, RefSeq RNA:NM_001173498, UCSC Genome Browser:NM_000528, UniProtKB:A8K6A7, UniProtKB:O00754 No chr19 12757322 12777591 12646508 12666777 +PA128394625 23324 HGNC:29623 ENSG00000013288 mannosidase alpha class 2B member 2 MAN2B2 """Epididymis-specific alpha-mannosidase"", ""core-specific lysosomal alpha-1,6-Mannosidase"", ""mannosidase, alpha, class 2B, member 2""" EpMAN, KIAA0935 Yes No Comparative Toxicogenomics Database:23324, Ensembl:ENSG00000013288, GeneCard:MAN2B2, HGNC:HGNC:29623, NCBI Gene:23324, RefSeq DNA:NT_006051, RefSeq Protein:NP_056089, RefSeq RNA:NM_015274, UniProtKB:Q05BN7, UniProtKB:Q9Y2E5 No chr4 6576902 6624188 6575174 6622403 +PA30576 4123 HGNC:6827 ENSG00000140400 mannosidase alpha class 2C member 1 MAN2C1 """Alpha-mannosidase 2C1"", ""cytosolic α-mannosidase"", ""cytosolic α-mannosidase"", ""mannosidase, alpha, class 2C, member 1""" MANA, MANA1 Yes No Comparative Toxicogenomics Database:4123, Ensembl:ENSG00000140400, GenAtlas:MAN2C1, GeneCard:MAN2C1, HGNC:HGNC:6827, HumanCyc Gene:HS13830, ModBase:Q9NTJ4, NCBI Gene:4123, OMIM:154580, RefSeq DNA:NT_010194, RefSeq Protein:NP_006706, RefSeq RNA:NM_006715, UCSC Genome Browser:NM_006715, UniProtKB:Q9NTJ4 No chr15 75648133 75661455 75355792 75368680 +PA30577 4126 HGNC:6831 ENSG00000109323 mannosidase beta MANBA """beta-mannosidase A"", ""mannosidase, beta A, lysosomal""" Yes No Comparative Toxicogenomics Database:4126, Ensembl:ENSG00000109323, GenAtlas:MANBA, GeneCard:MANBA, HGNC:HGNC:6831, HumanCyc Gene:HS03219, ModBase:O00462, NCBI Gene:4126, OMIM:248510, OMIM:609489, RefSeq DNA:NG_012804, RefSeq DNA:NT_016354, RefSeq Protein:NP_005899, RefSeq RNA:NM_005908, UCSC Genome Browser:NM_005908, UniProtKB:O00462 No chr4 103552643 103682151 102631486 102760998 +PA30578 63905 HGNC:15799 ENSG00000101363 mannosidase beta like MANBAL mannosidase, beta A, lysosomal-like dJ1141E15.2 Yes No Comparative Toxicogenomics Database:63905, Ensembl:ENSG00000101363, GenAtlas:MANBAL, GeneCard:MANBAL, HGNC:HGNC:15799, HumanCyc Gene:HS12453, NCBI Gene:63905, RefSeq DNA:NT_011362, RefSeq Protein:NP_001003897, RefSeq Protein:NP_071360, RefSeq RNA:NM_001003897, RefSeq RNA:NM_022077, UCSC Genome Browser:NM_022077, UniProtKB:Q9NQG1 No chr20 35918051 35945663 37289648 37317260 +PA134891001 79694 HGNC:21072 ENSG00000172469 mannosidase endo-alpha MANEA """endomannosidase"", ""glycoprotein endo-alpha-1,2-mannosidase"", ""mannosidase, endo-alpha""" FLJ12838, mandaselin Yes No Ensembl:ENSG00000172469, GeneCard:MANEA, HGNC:HGNC:21072, HumanCyc Gene:HS16090, ModBase:Q5SRI9, NCBI Gene:79694, OMIM:612327, RefSeq DNA:NT_025741, RefSeq Protein:NP_078917, RefSeq RNA:NM_024641, UniProtKB:Q5SRI9 No chr6 96025373 96057333 95577497 95609452 +PA142671481 149175 HGNC:26452 ENSG00000185090 mannosidase endo-alpha like MANEAL mannosidase, endo-alpha-like FLJ31434 Yes No Ensembl:ENSG00000185090, GeneCard:MANEAL, HGNC:HGNC:26452, NCBI Gene:149175, RefSeq DNA:NT_032977, RefSeq Protein:NP_001026910, RefSeq Protein:NP_001106954, RefSeq Protein:NP_689709, RefSeq RNA:NM_001031740, RefSeq RNA:NM_001113482, RefSeq RNA:NM_152496, UniProtKB:Q5VSG8 No chr1 38259721 38267278 37793816 37801606 +PA24993 7873 HGNC:15461 ENSG00000145050 mesencephalic astrocyte derived neurotrophic factor MANF mesencephalic astrocyte-derived neurotrophic factor ARMET, ARP Yes No Comparative Toxicogenomics Database:7873, Ensembl:ENSG00000145050, GenAtlas:ARMET, GeneCard:ARMET, GeneCard:MANF, HGNC:HGNC:15461, HumanCyc Gene:HS07226, NCBI Gene:7873, OMIM:260350, OMIM:601916, RefSeq DNA:NG_012652, RefSeq DNA:NT_022517, RefSeq Protein:NP_006001, RefSeq RNA:NM_006010, UCSC Genome Browser:NM_006010, UniProtKB:P55145 No chr3 51422692 51426828 51385237 51389397 +PA134948173 54682 HGNC:25505 ENSG00000111261 MANSC domain containing 1 MANSC1 FLJ10298, LOH12CR3 Yes No Ensembl:ENSG00000111261, GeneCard:MANSC1, HGNC:HGNC:25505, HumanCyc Gene:HS12736, ModBase:Q9H8J5, NCBI Gene:54682, RefSeq DNA:NT_009714, RefSeq Protein:NP_060520, RefSeq RNA:NM_018050, UniProtKB:Q9H8J5 No chr12 12482195 12503475 12329263 12350541 +PA166049046 100287284 HGNC:40023 ENSG00000205693 MANSC domain containing 4 MANSC4 Yes No Ensembl:ENSG00000205693, HGNC:HGNC:40023, NCBI Gene:100287284 No chr12 27915599 27924209 27762645 27771899 +PA236 4128 HGNC:6833 ENSG00000189221 monoamine oxidase A MAOA Yes Yes Comparative Toxicogenomics Database:4128, Ensembl:ENSG00000189221, GenAtlas:MAOA, GeneCard:MAOA, HGNC:HGNC:6833, HumanCyc Gene:HS01798, ModBase:P21397, NCBI Gene:4128, OMIM:300615, OMIM:309850, RefSeq DNA:NG_008957, RefSeq DNA:NT_079573, RefSeq Protein:NP_000231, RefSeq RNA:NM_000240, UCSC Genome Browser:NM_000240, UniProtKB:P21397, UniProtKB:Q53YE7 No chrX 43514155 43606071 43654907 43746824 +PA237 4129 HGNC:6834 ENSG00000069535 monoamine oxidase B MAOB Yes Yes Comparative Toxicogenomics Database:4129, Ensembl:ENSG00000069535, GenAtlas:MAOB, GeneCard:MAOB, HGNC:HGNC:6834, HumanCyc Gene:HS00966, ModBase:P27338, NCBI Gene:4129, OMIM:309860, RefSeq DNA:NG_008723, RefSeq DNA:NT_079573, RefSeq Protein:NP_000889, RefSeq RNA:NM_000898, UCSC Genome Browser:NM_000898, UniProtKB:P27338 No chrX 43625857 43741721 43766610 43882475 +PA142671610 54627 HGNC:29265 ENSG00000212916 microtubule associated protein 10 MAP10 microtubule regulator 120 KDa, microtubule-associated protein 10 KIAA1383, MTR120 Yes No Ensembl:ENSG00000212916, GeneCard:KIAA1383, HGNC:HGNC:29265, ModBase:Q9P2G4, NCBI Gene:54627, RefSeq DNA:NT_167186, RefSeq Protein:NP_061963, RefSeq RNA:NM_019090, UniProtKB:Q9P2G4 No chr1 232940638 232946092 232804892 232810346 +PA30580 4130 HGNC:6835 ENSG00000166963 microtubule associated protein 1A MAP1A microtubule-associated protein 1A MAP1L Yes No Comparative Toxicogenomics Database:4130, Ensembl:ENSG00000166963, GenAtlas:MAP1A, GeneCard:MAP1A, HGNC:HGNC:6835, HumanCyc Gene:HS09491, NCBI Gene:4130, OMIM:600178, RefSeq DNA:NT_010194, RefSeq Protein:NP_002364, RefSeq RNA:NM_002373, UCSC Genome Browser:NM_002373, UniProtKB:Q504X9 No chr15 43803165 43823818 43510946 43531620 +PA30581 4131 HGNC:6836 ENSG00000131711 microtubule associated protein 1B MAP1B """microtubule-associated protein 1B"", ""protein phosphatase 1, regulatory subunit 102""" MAP5, PPP1R102 Yes No Comparative Toxicogenomics Database:4131, Ensembl:ENSG00000131711, GenAtlas:MAP1B, GeneCard:MAP1B, HGNC:HGNC:6836, HumanCyc Gene:HS05552, ModBase:P46821, NCBI Gene:4131, OMIM:157129, RefSeq DNA:NT_006713, RefSeq Protein:NP_005900, RefSeq RNA:NM_005909, UCSC Genome Browser:NM_005909, UniProtKB:P46821, UniProtKB:Q6PJD3, UniProtKB:Q86X89 No chr5 71403118 71505397 72107268 72209570 +PA30582 84557 HGNC:6838 ENSG00000101460 microtubule associated protein 1 light chain 3 alpha MAP1LC3A microtubule-associated protein 1 light chain 3 alpha ATG8E, LC3, LC3A, MAP1ALC3, MAP1BLC3 Yes No Comparative Toxicogenomics Database:84557, Ensembl:ENSG00000101460, GenAtlas:MAP1LC3A, GeneCard:MAP1LC3A, HGNC:HGNC:6838, HumanCyc Gene:HS12457, ModBase:Q9H492, NCBI Gene:84557, OMIM:601242, RefSeq DNA:NT_011362, RefSeq Protein:NP_115903, RefSeq Protein:NP_852610, RefSeq RNA:NM_032514, RefSeq RNA:NM_181509, UCSC Genome Browser:NM_032514, UniProtKB:Q9H492 No chr20 33134688 33148149 34546823 34560345 +PA134923100 81631 HGNC:13352 ENSG00000140941 microtubule associated protein 1 light chain 3 beta MAP1LC3B microtubule-associated protein 1 light chain 3 beta ATG8F Yes No Comparative Toxicogenomics Database:81631, Ensembl:ENSG00000140941, GeneCard:MAP1LC3B, HGNC:HGNC:13352, HumanCyc Gene:HS06776, ModBase:Q9GZQ8, NCBI Gene:81631, OMIM:609604, RefSeq DNA:NT_010498, RefSeq Protein:NP_073729, RefSeq RNA:NM_022818, UniProtKB:Q658J6, UniProtKB:Q9GZQ8 No chr16 87423157 87438380 87392195 87404774 +PA162394969 643246 HGNC:34390 ENSG00000258102 microtubule associated protein 1 light chain 3 beta 2 MAP1LC3B2 microtubule-associated protein 1 light chain 3 beta 2 ATG8G Yes No Ensembl:ENSG00000258102, GeneCard:MAP1LC3B2, HGNC:HGNC:34390, ModBase:A6NCE7, NCBI Gene:643246, RefSeq DNA:NT_009775, RefSeq Protein:NP_001078950, RefSeq RNA:NM_001085481, UniProtKB:A6NCE7 No chr12 116997186 117014425 116559208 116576620 +PA142671482 440738 HGNC:13353 ENSG00000197769 microtubule associated protein 1 light chain 3 gamma MAP1LC3C microtubule-associated protein 1 light chain 3 gamma ATG8J Yes No Ensembl:ENSG00000197769, GeneCard:MAP1LC3C, HGNC:HGNC:13353, ModBase:Q9BXW4, NCBI Gene:440738, OMIM:609605, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004343, RefSeq RNA:NM_001004343, UniProtKB:Q9BXW4 No chr1 242158792 242164630 241995194 242001393 +PA134989093 387615 HGNC:31004 ENSG00000267647 microtubule-associated protein 1 light chain 3 pseudogene MAP1LC3P HsT312 Yes No Ensembl:ENSG00000267647, GeneCard:MAP1LC3P, HGNC:HGNC:31004, NCBI Gene:387615, RefSeq DNA:NG_004859, RefSeq DNA:NT_025028 No chr18 52621644 52622268 54954413 54955037 +PA38031 55201 HGNC:15715 ENSG00000130479 microtubule associated protein 1S MAP1S microtubule-associated protein 1S BPY2IP1, C19orf5, FLJ10669, MAP8, VCY2IP1 Yes No Ensembl:ENSG00000130479, GenAtlas:MAP1S, GeneCard:MAP1S, HGNC:HGNC:15715, HumanCyc Gene:HS13334, ModBase:Q96SP8, NCBI Gene:55201, OMIM:607573, RefSeq DNA:NT_011295, RefSeq Protein:NP_060644, RefSeq RNA:NM_018174, UCSC Genome Browser:NM_018174, UniProtKB:Q66K74 No chr19 17830303 17845324 17719352 17734515 +PA30583 4133 HGNC:6839 ENSG00000078018 microtubule associated protein 2 MAP2 microtubule-associated protein 2 MAP2A, MAP2B, MAP2C Yes No Comparative Toxicogenomics Database:4133, Ensembl:ENSG00000078018, GenAtlas:MAP2, GeneCard:MAP2, HGNC:HGNC:6839, HumanCyc Gene:HS01265, ModBase:P11137, NCBI Gene:4133, OMIM:157130, RefSeq DNA:NT_005403, RefSeq Protein:NP_001034627, RefSeq Protein:NP_002365, RefSeq Protein:NP_114033, RefSeq Protein:NP_114035, RefSeq RNA:NM_001039538, RefSeq RNA:NM_002374, RefSeq RNA:NM_031845, RefSeq RNA:NM_031847, UCSC Genome Browser:NM_002374, UniProtKB:P11137, UniProtKB:Q6NYC5, UniProtKB:Q8IUX2 No chr2 210288733 210598842 209424047 209734118 +PA30584 5604 HGNC:6840 ENSG00000169032 mitogen-activated protein kinase kinase 1 MAP2K1 MAP kinase kinase 1, MAPK/ERK kinase 1, dual specificity mitogen-activated protein kinase kinase 1 MAPKK1, MEK1, MKK1, PRKMK1 Yes No Comparative Toxicogenomics Database:5604, Ensembl:ENSG00000169032, GenAtlas:MAP2K1, GeneCard:MAP2K1, HGNC:HGNC:6840, HumanCyc Gene:HS09869, ModBase:Q02750, NCBI Gene:5604, OMIM:115150, OMIM:176872, RefSeq DNA:NG_008305, RefSeq DNA:NT_010194, RefSeq Protein:NP_002746, RefSeq RNA:NM_002755, UCSC Genome Browser:NM_002755, UniProtKB:A4QPA9, UniProtKB:Q02750 No chr15 66679182 66783882 66386873 66491544 +PA30586 29778 HGNC:6841 ENSG00000254013 mitogen-activated protein kinase kinase 1 pseudogene 1 MAP2K1P1 Yes No Ensembl:ENSG00000254013, GenAtlas:MAP2K1P1, GeneCard:MAP2K1P1, HGNC:HGNC:6841, NCBI Gene:29778, RefSeq DNA:NG_001273, RefSeq DNA:NT_167187 No chr8 29884760 29887355 30027244 30029839 +PA30587 5605 HGNC:6842 ENSG00000126934 mitogen-activated protein kinase kinase 2 MAP2K2 MAP kinase kinase 2 MEK2, MKK2, PRKMK2 Yes No Comparative Toxicogenomics Database:5605, Ensembl:ENSG00000126934, GenAtlas:MAP2K2, GeneCard:MAP2K2, HGNC:HGNC:6842, HumanCyc Gene:HS05062, ModBase:P36507, NCBI Gene:5605, OMIM:115150, OMIM:601263, RefSeq DNA:NG_007996, RefSeq DNA:NT_011255, RefSeq DNA:NT_079596, RefSeq Protein:NP_109587, RefSeq RNA:NM_030662, UCSC Genome Browser:NM_030662, UniProtKB:P36507 No chr19 4090319 4124126 4090321 4124184 +PA30588 5606 HGNC:6843 ENSG00000034152 mitogen-activated protein kinase kinase 3 MAP2K3 MAP kinase kinase 3, MAPK/ERK kinase 3, dual specificity mitogen activated protein kinase kinase 3, stress-activated protein kinase kinase 2 MAPKK3, MEK3, MKK3, PRKMK3, SAPKK2 Yes No Comparative Toxicogenomics Database:5606, Ensembl:ENSG00000034152, GenAtlas:MAP2K3, GeneCard:MAP2K3, HGNC:HGNC:6843, HumanCyc Gene:HS00498, ModBase:P46734, NCBI Gene:5606, OMIM:602315, RefSeq DNA:NT_010718, RefSeq Protein:NP_002747, RefSeq Protein:NP_659731, RefSeq RNA:NM_002756, RefSeq RNA:NM_145109, UCSC Genome Browser:NM_002756, UniProtKB:P46734, UniProtKB:Q6FI23 No chr17 21187968 21218552 21284656 21315240 +PA30589 6416 HGNC:6844 ENSG00000065559 mitogen-activated protein kinase kinase 4 MAP2K4 c-Jun NH2-terminal kinase kinase 1, stress-activated protein kinase kinase 1 JNKK, JNKK1, MAPKK4, MEK4, MKK4, PRKMK4, SAPKK1, SEK1, SERK1, SKK1 Yes Yes Comparative Toxicogenomics Database:6416, Ensembl:ENSG00000065559, GenAtlas:MAP2K4, GeneCard:MAP2K4, HGNC:HGNC:6844, HumanCyc Gene:HS00847, ModBase:P45985, NCBI Gene:6416, OMIM:601335, RefSeq DNA:NT_010718, RefSeq Protein:NP_003001, RefSeq RNA:NM_003010, UCSC Genome Browser:NM_003010, UniProtKB:P45985 No chr17 11924135 12047148 12020818 12143831 +PA30590 5607 HGNC:6845 ENSG00000137764 mitogen-activated protein kinase kinase 5 MAP2K5 MAP kinase kinase 5, MAPK/ERK kinase 5, dual specificity mitogen-activated protein kinase kinase 5 HsT17454, MAPKK5, MEK5, PRKMK5 Yes No Comparative Toxicogenomics Database:5607, Ensembl:ENSG00000137764, GenAtlas:MAP2K5, GeneCard:MAP2K5, HGNC:HGNC:6845, HumanCyc Gene:HS06391, ModBase:Q13163, NCBI Gene:5607, OMIM:602520, RefSeq DNA:NT_010194, RefSeq Protein:NP_001193733, RefSeq Protein:NP_002748, RefSeq Protein:NP_660143, RefSeq RNA:NM_001206804, RefSeq RNA:NM_002757, RefSeq RNA:NM_145160, UCSC Genome Browser:NM_002757, UniProtKB:Q13163 No chr15 67835021 68099455 67542606 67807117 +PA30591 5608 HGNC:6846 ENSG00000108984 mitogen-activated protein kinase kinase 6 MAP2K6 protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6) MAPKK6, MEK6, MKK6, PRKMK6, SAPKK3 Yes Yes Comparative Toxicogenomics Database:5608, Ensembl:ENSG00000108984, GenAtlas:MAP2K6, GeneCard:MAP2K6, HGNC:HGNC:6846, HumanCyc Gene:HS03185, ModBase:P52564, NCBI Gene:5608, OMIM:601254, RefSeq DNA:NT_010783, RefSeq Protein:NP_002749, RefSeq RNA:NM_002758, UCSC Genome Browser:NM_002758, UniProtKB:A8K3Y2, UniProtKB:P52564 No chr17 67410838 67538470 69414697 69553854 +PA284 5609 HGNC:6847 ENSG00000076984 mitogen-activated protein kinase kinase 7 MAP2K7 Dual specificity mitogen-activated protein kinase kinase 7, stress-activated protein kinase kinase 4 Jnkk2, MKK7, PRKMK7, SAPKK4 Yes No Comparative Toxicogenomics Database:5609, Ensembl:ENSG00000076984, GenAtlas:MAP2K7, GeneCard:MAP2K7, HGNC:HGNC:6847, HumanCyc Gene:HS01224, ModBase:O14733, NCBI Gene:5609, OMIM:603014, RefSeq DNA:NT_077812, RefSeq Protein:NP_660186, RefSeq RNA:NM_145185, UCSC Genome Browser:NM_005043, UniProtKB:O14733 No chr19 7968665 7979363 7903780 7914483 +PA30592 4214 HGNC:6848 ENSG00000095015 mitogen-activated protein kinase kinase kinase 1 MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase MAPKKK1, MEKK, MEKK1 Yes Yes Comparative Toxicogenomics Database:4214, Ensembl:ENSG00000095015, GenAtlas:MAP3K1, GeneCard:MAP3K1, HGNC:HGNC:6848, HumanCyc Gene:HS01809, ModBase:Q13233, NCBI Gene:4214, OMIM:600982, RefSeq DNA:NT_006713, RefSeq Protein:NP_005912, RefSeq RNA:NM_005921, UniProtKB:Q13233 No chr5 56110900 56191979 56815073 56896152 +PA30593 4294 HGNC:6849 ENSG00000130758 mitogen-activated protein kinase kinase kinase 10 MAP3K10 MKN28 derived nonreceptor_type serine/threonine kinase, MKN28 kinase, mixed lineage kinase 2 MEKK10, MLK2, MST Yes No Comparative Toxicogenomics Database:4294, Ensembl:ENSG00000130758, GenAtlas:MAP3K10, GeneCard:MAP3K10, HGNC:HGNC:6849, HumanCyc Gene:HS05438, ModBase:Q02779, NCBI Gene:4294, OMIM:600137, RefSeq DNA:NT_011109, RefSeq Protein:NP_002437, RefSeq RNA:NM_002446, UCSC Genome Browser:NM_002446, UniProtKB:Q02779 No chr19 40697504 40721487 40191657 40215575 +PA30594 4296 HGNC:6850 ENSG00000173327 mitogen-activated protein kinase kinase kinase 11 MAP3K11 MEKK11, MLK3, PTK1, SPRK Yes No Ensembl:ENSG00000173327, GenAtlas:MAP3K11, GeneCard:MAP3K11, HGNC:HGNC:6850, HumanCyc Gene:HS10651, ModBase:Q16584, NCBI Gene:4296, OMIM:600050, RefSeq DNA:NT_167190, RefSeq Protein:NP_002410, RefSeq RNA:NM_002419, UCSC Genome Browser:NM_002419, UniProtKB:Q16584 No chr11 65365226 65381720 65597755 65614338 +PA30595 7786 HGNC:6851 ENSG00000139625 mitogen-activated protein kinase kinase kinase 12 MAP3K12 dual leucine zipper kinase DLK DLK, MEKK12, MUK, ZPK, ZPKP1 Yes No Comparative Toxicogenomics Database:7786, Ensembl:ENSG00000139625, GenAtlas:MAP3K12, GeneCard:MAP3K12, HGNC:HGNC:6851, HumanCyc Gene:HS06639, ModBase:Q12852, NCBI Gene:7786, OMIM:600447, RefSeq DNA:NT_029419, RefSeq Protein:NP_001180440, RefSeq Protein:NP_006292, RefSeq RNA:NM_001193511, RefSeq RNA:NM_006301, UCSC Genome Browser:NM_006301, UniProtKB:Q12852 No chr12 53873456 53893444 53480492 53501066 +PA30596 9175 HGNC:6852 ENSG00000073803 mitogen-activated protein kinase kinase kinase 13 MAP3K13 leucine zipper-bearing kinase LZK, MEKK13 Yes No Comparative Toxicogenomics Database:9175, Ensembl:ENSG00000073803, GenAtlas:MAP3K13, GeneCard:MAP3K13, HGNC:HGNC:6852, HumanCyc Gene:HS01117, ModBase:O43283, NCBI Gene:9175, OMIM:604915, RefSeq DNA:NT_005612, RefSeq Protein:NP_001229243, RefSeq Protein:NP_001229246, RefSeq Protein:NP_004712, RefSeq RNA:NM_001242314, RefSeq RNA:NM_001242317, RefSeq RNA:NM_004721, RefSeq RNA:NR_038322, UCSC Genome Browser:NM_004721, UniProtKB:O43283 No chr3 185000729 185206882 185282938 185489094 +PA30597 9020 HGNC:6853 ENSG00000006062 mitogen-activated protein kinase kinase kinase 14 MAP3K14 serine/threonine protein-kinase FTDCR1B, HS, HSNIK, NIK Yes Yes Comparative Toxicogenomics Database:9020, Ensembl:ENSG00000006062, GenAtlas:MAP3K14, GeneCard:MAP3K14, HGNC:HGNC:6853, HumanCyc Gene:HS00162, ModBase:Q99558, NCBI Gene:9020, OMIM:604655, RefSeq DNA:NT_010783, RefSeq Protein:NP_003945, RefSeq RNA:NM_003954, UCSC Genome Browser:NM_003954, UniProtKB:Q99558 No chr17 43340488 43394414 45263119 45317064 +PA134935369 389840 HGNC:31689 ENSG00000180815 mitogen-activated protein kinase kinase kinase 15 MAP3K15 ASK3, FLJ16518, bA723P2.3 Yes No Ensembl:ENSG00000180815, GeneCard:MAP3K15, HGNC:HGNC:31689, NCBI Gene:389840, OMIM:300820, RefSeq DNA:NG_021184, RefSeq DNA:NT_167197, RefSeq Protein:NP_001001671, RefSeq RNA:NM_001001671, UniProtKB:Q6ZN16 No chrX 19378174 19533379 19360058 19515459 +PA142670554 80122 HGNC:26249 ENSG00000176601 mitogen-activated protein kinase kinase kinase 19 MAP3K19 FLJ23074, RCK, YSK4 Yes No Ensembl:ENSG00000176601, GeneCard:YSK4, HGNC:HGNC:26249, HumanCyc Gene:HS11064, ModBase:Q56UN5, NCBI Gene:80122, RefSeq DNA:NT_022135, RefSeq Protein:NP_001018056, RefSeq Protein:NP_079328, RefSeq RNA:NM_001018046, RefSeq RNA:NM_025052, UniProtKB:Q56UN5 No chr2 135722076 135782301 134963875 135047468 +PA30598 10746 HGNC:6854 ENSG00000169967 mitogen-activated protein kinase kinase kinase 2 MAP3K2 MAP/ERK kinase kinase 2 MEKK2, MEKK2B Yes No Ensembl:ENSG00000169967, GenAtlas:MAP3K2, GeneCard:MAP3K2, HGNC:HGNC:6854, HumanCyc Gene:HS10046, ModBase:Q9Y2U5, NCBI Gene:10746, OMIM:609487, RefSeq DNA:NT_022135, RefSeq Protein:NP_006600, RefSeq RNA:NM_006609, UCSC Genome Browser:NM_006609, UniProtKB:Q9Y2U5 No chr2 128056245 128100805 127298669 127343229 +PA166181556 51776 HGNC:17797 ENSG00000091436 mitogen-activated protein kinase kinase kinase 20 MAP3K20 """ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)"", ""mixed lineage kinase 7""" MLK7, MLTK, MLTKalpha, MLTKbeta, MRK, ZAK Yes No Ensembl:ENSG00000091436, HGNC:HGNC:17797, NCBI Gene:51776 No 0 0 0 0 +PA166181557 84451 HGNC:29798 ENSG00000143674 mitogen-activated protein kinase kinase kinase 21 MAP3K21 mixed lineage kinase 4 KIAA1804, MLK4 Yes No Ensembl:ENSG00000143674, HGNC:HGNC:29798, NCBI Gene:84451 No 0 0 0 0 +PA30599 4215 HGNC:6855 ENSG00000198909 mitogen-activated protein kinase kinase kinase 3 MAP3K3 MAP/ERK kinase kinase 3, MAPK/ERK kinase kinase 3 MAPKKK3, MEKK3 Yes No Comparative Toxicogenomics Database:4215, Ensembl:ENSG00000198909, GenAtlas:MAP3K3, GeneCard:MAP3K3, HGNC:HGNC:6855, HumanCyc Gene:HS01586, ModBase:Q99759, NCBI Gene:4215, OMIM:602539, RefSeq DNA:NT_010783, RefSeq Protein:NP_002392, RefSeq Protein:NP_976226, RefSeq RNA:NM_002401, RefSeq RNA:NM_203351, UCSC Genome Browser:NM_002401, UniProtKB:Q99759 No chr17 61699404 61773670 63622209 63696310 +PA30600 4216 HGNC:6856 ENSG00000085511 mitogen-activated protein kinase kinase kinase 4 MAP3K4 KIAA0213, MAPKKK4, MEKK4, MTK1 Yes No Comparative Toxicogenomics Database:4216, Ensembl:ENSG00000085511, GenAtlas:MAP3K4, GeneCard:MAP3K4, HGNC:HGNC:6856, HumanCyc Gene:HS01498, ModBase:Q9Y6R4, NCBI Gene:4216, OMIM:602425, RefSeq DNA:NT_025741, RefSeq Protein:NP_005913, RefSeq Protein:NP_006715, RefSeq RNA:NM_005922, RefSeq RNA:NM_006724, UCSC Genome Browser:NM_005922, UniProtKB:Q9P1M2, UniProtKB:Q9Y6R4 No chr6 161412816 161538417 160991521 161117385 +PA30601 4217 HGNC:6857 ENSG00000197442 mitogen-activated protein kinase kinase kinase 5 MAP3K5 apoptosis signal regulating kinase 1 ASK1, MAPKKK5, MEKK5 Yes Yes Comparative Toxicogenomics Database:4217, Ensembl:ENSG00000197442, GenAtlas:MAP3K5, GeneCard:MAP3K5, HGNC:HGNC:6857, HumanCyc Gene:HS00234, ModBase:Q99683, NCBI Gene:4217, OMIM:602448, RefSeq DNA:NG_011965, RefSeq DNA:NT_025741, RefSeq Protein:NP_005914, RefSeq RNA:NM_005923, UCSC Genome Browser:NM_005923, UniProtKB:Q99683 No chr6 136878184 137113656 136557046 136793098 +PA30602 9064 HGNC:6858 ENSG00000142733 mitogen-activated protein kinase kinase kinase 6 MAP3K6 apoptosis signal regulating kinase 2 ASK2, MAPKKK6, MEKK6 Yes No Comparative Toxicogenomics Database:9064, Ensembl:ENSG00000142733, GenAtlas:MAP3K6, GeneCard:MAP3K6, HGNC:HGNC:6858, HumanCyc Gene:HS06957, ModBase:O95382, NCBI Gene:9064, OMIM:604468, RefSeq DNA:NT_004610, RefSeq Protein:NP_004663, RefSeq RNA:NM_004672, UCSC Genome Browser:NM_004672, UniProtKB:O95382 No chr1 27681670 27693558 27355179 27368037 +PA30603 6885 HGNC:6859 ENSG00000135341 mitogen-activated protein kinase kinase kinase 7 MAP3K7 TGF-beta activated kinase 1 MEKK7, TAK1 Yes No Comparative Toxicogenomics Database:6885, Ensembl:ENSG00000135341, GenAtlas:MAP3K7, GeneCard:MAP3K7, HGNC:HGNC:6859, HumanCyc Gene:HS05984, ModBase:O43318, NCBI Gene:6885, OMIM:602614, RefSeq DNA:NG_011966, RefSeq DNA:NT_007299, RefSeq Protein:NP_003179, RefSeq Protein:NP_663304, RefSeq Protein:NP_663305, RefSeq Protein:NP_663306, RefSeq RNA:NM_003188, RefSeq RNA:NM_145331, RefSeq RNA:NM_145332, RefSeq RNA:NM_145333, UCSC Genome Browser:NM_003188, UniProtKB:O43318, UniProtKB:Q9NZ70 No chr6 91223292 91297020 90513573 90587301 +PA25864 56911 HGNC:16457 ENSG00000156265 MAP3K7 C-terminal like MAP3K7CL C21orf7, TAK1L, TAKL, TAKL-1, TAKL-2, TAKL-4 Yes No Comparative Toxicogenomics Database:56911, Ensembl:ENSG00000156265, GenAtlas:C21orf7, GeneCard:C21orf7, HGNC:HGNC:16457, HumanCyc Gene:HS14611, NCBI Gene:56911, OMIM:611110, RefSeq DNA:NT_011512, RefSeq Protein:NP_064537, RefSeq RNA:NM_020152, UCSC Genome Browser:NM_020152, UniProtKB:P57077 No chr21 30449659 30548210 29077471 29175889 +PA30606 1326 HGNC:6860 ENSG00000107968 mitogen-activated protein kinase kinase kinase 8 MAP3K8 COT, EST, ESTF, MEKK8, Tpl-2, c-COT Yes No Comparative Toxicogenomics Database:1326, Ensembl:ENSG00000107968, GenAtlas:MAP3K8, GeneCard:MAP3K8, HGNC:HGNC:6860, HumanCyc Gene:HS03052, ModBase:P41279, NCBI Gene:1326, OMIM:191195, OMIM:211980, RefSeq DNA:NT_008705, RefSeq Protein:NP_005195, RefSeq RNA:NM_005204, UCSC Genome Browser:NM_005204, UniProtKB:P41279 No chr10 30722950 30750762 30434021 30461833 +PA30607 4293 HGNC:6861 ENSG00000006432 mitogen-activated protein kinase kinase kinase 9 MAP3K9 MEKK9, MLK1, PRKE1 Yes No Ensembl:ENSG00000006432, GenAtlas:MAP3K9, GeneCard:MAP3K9, HGNC:HGNC:6861, HumanCyc Gene:HS11962, ModBase:P80192, NCBI Gene:4293, OMIM:600136, RefSeq DNA:NT_026437, RefSeq Protein:NP_149132, RefSeq RNA:NM_033141, UniProtKB:P80192, UniProtKB:Q8NEB1 No chr14 71189243 71275912 70722526 70809268 +PA30608 4134 HGNC:6862 ENSG00000047849 microtubule associated protein 4 MAP4 microtubule-associated protein 4 Yes No Comparative Toxicogenomics Database:4134, Ensembl:ENSG00000047849, GenAtlas:MAP4, GeneCard:MAP4, HGNC:HGNC:6862, HumanCyc Gene:HS00595, ModBase:P27816, NCBI Gene:4134, OMIM:157132, RefSeq DNA:NT_022517, RefSeq Protein:NP_001127836, RefSeq Protein:NP_001127837, RefSeq Protein:NP_002366, RefSeq Protein:NP_112146, RefSeq Protein:NP_112147, RefSeq RNA:NM_001134364, RefSeq RNA:NM_001134365, RefSeq RNA:NM_002375, RefSeq RNA:NM_030884, RefSeq RNA:NM_030885, UCSC Genome Browser:NM_002375, UniProtKB:B9ZVR1, UniProtKB:P27816, UniProtKB:Q86V26, UniProtKB:Q86Y04 No chr3 47892180 48130769 47850690 48089279 +PA30609 11184 HGNC:6863 ENSG00000104814 mitogen-activated protein kinase kinase kinase kinase 1 MAP4K1 hematopoietic progenitor kinase 1 HPK1 Yes No Comparative Toxicogenomics Database:11184, Ensembl:ENSG00000104814, GenAtlas:MAP4K1, GeneCard:MAP4K1, HGNC:HGNC:6863, HumanCyc Gene:HS02623, ModBase:Q92918, NCBI Gene:11184, OMIM:601983, RefSeq DNA:NT_011109, RefSeq Protein:NP_001036065, RefSeq Protein:NP_009112, RefSeq RNA:NM_001042600, RefSeq RNA:NM_007181, UCSC Genome Browser:NM_007181, UniProtKB:A8MWC4, UniProtKB:Q92918 No chr19 39078281 39108643 38587640 38618035 +PA30610 5871 HGNC:6864 ENSG00000168067 mitogen-activated protein kinase kinase kinase kinase 2 MAP4K2 BL44, GCK, RAB8IP Yes No Comparative Toxicogenomics Database:5871, Ensembl:ENSG00000168067, GenAtlas:MAP4K2, GeneCard:MAP4K2, HGNC:HGNC:6864, HumanCyc Gene:HS09689, ModBase:Q12851, NCBI Gene:5871, OMIM:603166, RefSeq DNA:NT_167190, RefSeq Protein:NP_004570, RefSeq RNA:NM_004579, UCSC Genome Browser:NM_004579, UniProtKB:Q12851 No chr11 64556609 64570720 64786914 64803254 +PA30611 8491 HGNC:6865 ENSG00000011566 mitogen-activated protein kinase kinase kinase kinase 3 MAP4K3 GLK, MAPKKKK3, RAB8IPL1 Yes No Ensembl:ENSG00000011566, GenAtlas:MAP4K3, GeneCard:MAP4K3, HGNC:HGNC:6865, HumanCyc Gene:HS00322, ModBase:Q8IVH8, NCBI Gene:8491, OMIM:604921, RefSeq DNA:NT_022184, RefSeq Protein:NP_003609, RefSeq RNA:NM_003618, UCSC Genome Browser:NM_003618, UniProtKB:Q8IVH8 No chr2 39476407 39664453 39249266 39437312 +PA30612 9448 HGNC:6866 ENSG00000071054 mitogen-activated protein kinase kinase kinase kinase 4 MAP4K4 HPK/GCK-like kinase, hepatocyte progenitor kinase-like/germinal center kinase-like kinase FLH21957, HGK, NIK Yes Yes Comparative Toxicogenomics Database:9448, Ensembl:ENSG00000071054, GenAtlas:MAP4K4, GeneCard:MAP4K4, HGNC:HGNC:6866, HumanCyc Gene:HS01023, ModBase:O95819, NCBI Gene:9448, OMIM:604666, RefSeq DNA:NT_022171, RefSeq Protein:NP_001229488, RefSeq Protein:NP_001229489, RefSeq Protein:NP_004825, RefSeq Protein:NP_663719, RefSeq Protein:NP_663720, RefSeq RNA:NM_001242559, RefSeq RNA:NM_001242560, RefSeq RNA:NM_004834, RefSeq RNA:NM_145686, RefSeq RNA:NM_145687, UCSC Genome Browser:NM_004834, UniProtKB:O95819 No chr2 102314165 102511152 101697703 101894690 +PA30613 11183 HGNC:6867 ENSG00000012983 mitogen-activated protein kinase kinase kinase kinase 5 MAP4K5 germinal center kinase-related GCKR, KHS, KHS1 Yes No Comparative Toxicogenomics Database:11183, Ensembl:ENSG00000012983, GenAtlas:MAP4K5, GeneCard:MAP4K5, HGNC:HGNC:6867, HumanCyc Gene:HS00338, ModBase:Q9Y4K4, NCBI Gene:11183, OMIM:604923, RefSeq DNA:NT_026437, RefSeq Protein:NP_006566, RefSeq Protein:NP_942089, RefSeq RNA:NM_006575, RefSeq RNA:NM_198794, UCSC Genome Browser:NM_006575, UniProtKB:Q9Y4K4 No chr14 50885211 50999376 50418493 50561126 +PA30614 4135 HGNC:6868 ENSG00000171533 microtubule associated protein 6 MAP6 microtubule-associated protein 6 FLJ41346, KIAA1878, MAP6-N, STOP Yes No Ensembl:ENSG00000171533, GenAtlas:MAP6, GeneCard:MAP6, HGNC:HGNC:6868, ModBase:Q96JE9, NCBI Gene:4135, OMIM:601783, RefSeq DNA:NT_167190, RefSeq Protein:NP_149052, RefSeq Protein:NP_997460, RefSeq RNA:NM_033063, RefSeq RNA:NM_207577, UniProtKB:Q6ZWB8, UniProtKB:Q96JE9 No chr11 75297959 75379479 75586914 75671108 +PA142671480 79929 HGNC:25753 ENSG00000180834 MAP6 domain containing 1 MAP6D1 STOP-Like protein 21 kD FLJ12748, SL21 Yes No Ensembl:ENSG00000180834, GeneCard:MAP6D1, HGNC:HGNC:25753, HumanCyc Gene:HS17575, ModBase:Q9H9H5, NCBI Gene:79929, OMIM:610593, RefSeq DNA:NT_005612, RefSeq Protein:NP_079147, RefSeq RNA:NM_024871, UniProtKB:Q9H9H5 No chr3 183533664 183543393 183815876 183825605 +PA30615 9053 HGNC:6869 ENSG00000135525 microtubule associated protein 7 MAP7 ensconsin, microtubule-associated protein 7 E-MAP-115 Yes No Comparative Toxicogenomics Database:9053, Ensembl:ENSG00000135525, GenAtlas:MAP7, GeneCard:MAP7, HGNC:HGNC:6869, HumanCyc Gene:HS06025, ModBase:Q14244, NCBI Gene:9053, OMIM:604108, RefSeq DNA:NT_025741, RefSeq Protein:NP_001185537, RefSeq Protein:NP_001185538, RefSeq Protein:NP_001185540, RefSeq Protein:NP_001185543, RefSeq Protein:NP_001185544, RefSeq Protein:NP_001185545, RefSeq Protein:NP_001185546, RefSeq Protein:NP_001185547, RefSeq Protein:NP_001185548, RefSeq Protein:NP_003971, RefSeq RNA:NM_001198608, RefSeq RNA:NM_001198609, RefSeq RNA:NM_001198611, RefSeq RNA:NM_001198614, RefSeq RNA:NM_001198615, RefSeq RNA:NM_001198616, RefSeq RNA:NM_001198617, RefSeq RNA:NM_001198618, RefSeq RNA:NM_001198619, RefSeq RNA:NM_003980, UCSC Genome Browser:NM_003980, UniProtKB:Q14244 No chr6 136663419 136871957 136342281 136551015 +PA162394970 55700 HGNC:25514 ENSG00000116871 MAP7 domain containing 1 MAP7D1 FLJ10350, FLJ39022, PARCC1, RPRC1 Yes No Ensembl:ENSG00000116871, GeneCard:MAP7D1, HGNC:HGNC:25514, HumanCyc Gene:HS12884, ModBase:Q3KQU3, NCBI Gene:55700, RefSeq DNA:NT_032977, RefSeq Protein:NP_060537, RefSeq RNA:NM_018067, UniProtKB:Q3KQU3 No chr1 36621751 36646450 36155965 36180849 +PA162394971 256714 HGNC:25899 ENSG00000184368 MAP7 domain containing 2 MAP7D2 FLJ14503 Yes No Ensembl:ENSG00000184368, GeneCard:MAP7D2, HGNC:HGNC:25899, ModBase:Q96T17, NCBI Gene:256714, RefSeq DNA:NG_016371, RefSeq DNA:NT_167197, RefSeq Protein:NP_001161937, RefSeq Protein:NP_001161938, RefSeq Protein:NP_001161939, RefSeq Protein:NP_689993, RefSeq RNA:NM_001168465, RefSeq RNA:NM_001168466, RefSeq RNA:NM_001168467, RefSeq RNA:NM_152780, UniProtKB:B7Z2J8, UniProtKB:Q96T17 No chrX 20024831 20135114 20006713 20116996 +PA162394972 79649 HGNC:25742 ENSG00000129680 MAP7 domain containing 3 MAP7D3 FLJ12649 Yes No Ensembl:ENSG00000129680, GeneCard:MAP7D3, HGNC:HGNC:25742, HumanCyc Gene:HS05305, ModBase:Q8IWC1, NCBI Gene:79649, RefSeq DNA:NG_016801, RefSeq DNA:NT_011786, RefSeq Protein:NP_001166987, RefSeq Protein:NP_001166988, RefSeq Protein:NP_078873, RefSeq RNA:NM_001173516, RefSeq RNA:NM_001173517, RefSeq RNA:NM_024597, UniProtKB:B4DWD2, UniProtKB:Q8IWC1 No chrX 135295379 135338641 136213220 136256482 +PA145148442 79884 HGNC:26118 ENSG00000164114 microtubule associated protein 9 MAP9 aster-associated protein, microtubule-associated protein 9 ASAP, FLJ21159 Yes No Ensembl:ENSG00000164114, GeneCard:MAP9, HGNC:HGNC:26118, HumanCyc Gene:HS15151, ModBase:Q49MG5, NCBI Gene:79884, OMIM:610070, RefSeq DNA:NT_016354, RefSeq Protein:NP_001034669, RefSeq RNA:NM_001039580, UniProtKB:Q05CN5, UniProtKB:Q49MG5 No chr4 156263810 156298122 155342658 155377118 +PA142672643 161823 HGNC:31853 ENSG00000168803 N6-Methyl-AMP deaminase MAPDA adenosine deaminase like, adenosine deaminase-like ADAL Yes No Comparative Toxicogenomics Database:161823, Ensembl:ENSG00000168803, GeneCard:ADAL, HGNC:HGNC:31853, ModBase:Q6DHV7, NCBI Gene:161823, RefSeq DNA:NT_010194, RefSeq Protein:NP_001012987, RefSeq Protein:NP_001152752, RefSeq RNA:NM_001012969, RefSeq RNA:NM_001159280, UniProtKB:B4DQM8, UniProtKB:Q6DHV7 No chr15 43622872 43646096 43330351 43354555 +PA30616 5594 HGNC:6871 ENSG00000100030 mitogen-activated protein kinase 1 MAPK1 Extracellular signal-regulated kinase 2 ERK, ERK2, MAPK2, PRKM1, PRKM2, p41mapk Yes Yes Comparative Toxicogenomics Database:5594, Ensembl:ENSG00000100030, GenAtlas:MAPK1, GeneCard:MAPK1, HGNC:HGNC:6871, HumanCyc Gene:HS01956, ModBase:P28482, NCBI Gene:5594, OMIM:176948, RefSeq DNA:NG_023054, RefSeq DNA:NT_011520, RefSeq Protein:NP_002736, RefSeq Protein:NP_620407, RefSeq RNA:NM_002745, RefSeq RNA:NM_138957, UCSC Genome Browser:NM_002745, UniProtKB:P28482, UniProtKB:Q1HBJ4, UniProtKB:Q499G7 No chr22 22113946 22221970 21759657 21867680 +PA30617 5602 HGNC:6872 ENSG00000109339 mitogen-activated protein kinase 10 MAPK10 JNK3, PRKM10, p493F12, p54bSAPK Yes No Comparative Toxicogenomics Database:5602, Ensembl:ENSG00000109339, GenAtlas:MAPK10, GeneCard:MAPK10, HGNC:HGNC:6872, HumanCyc Gene:HS03221, ModBase:P53779, NCBI Gene:5602, OMIM:602897, OMIM:606369, RefSeq DNA:NG_013325, RefSeq DNA:NT_016354, RefSeq Protein:NP_002744, RefSeq Protein:NP_620446, RefSeq Protein:NP_620447, RefSeq Protein:NP_620448, RefSeq RNA:NM_002753, RefSeq RNA:NM_138980, RefSeq RNA:NM_138981, RefSeq RNA:NM_138982, UCSC Genome Browser:NM_002753, UniProtKB:A6NG28, UniProtKB:A8MUN8, UniProtKB:B3KQ94, UniProtKB:P53779 No chr4 86933452 87374283 86012296 86594117 +PA30618 5600 HGNC:6873 ENSG00000185386 mitogen-activated protein kinase 11 MAPK11 PRKM11, SAPK2, p38-2, p38Beta Yes No Comparative Toxicogenomics Database:5600, Ensembl:ENSG00000185386, GenAtlas:MAPK11, GeneCard:MAPK11, HGNC:HGNC:6873, HumanCyc Gene:HS01788, ModBase:Q15759, NCBI Gene:5600, OMIM:602898, RefSeq DNA:NT_011526, RefSeq Protein:NP_002742, RefSeq RNA:NM_002751, UCSC Genome Browser:NM_002751, UniProtKB:Q15759 No chr22 50702142 50708779 50263713 50270393 +PA30619 6300 HGNC:6874 ENSG00000188130 mitogen-activated protein kinase 12 MAPK12 ERK6, PRKM12, SAPK-3, SAPK3, p38gamma Yes No Comparative Toxicogenomics Database:6300, Ensembl:ENSG00000188130, GenAtlas:MAPK12, GeneCard:MAPK12, HGNC:HGNC:6874, HumanCyc Gene:HS01100, ModBase:P53778, NCBI Gene:6300, OMIM:602399, RefSeq DNA:NT_011526, RefSeq Protein:NP_002960, RefSeq RNA:NM_002969, UCSC Genome Browser:NM_002969, UniProtKB:P53778 No chr22 50691331 50700248 50252902 50261759 +PA30620 5603 HGNC:6875 ENSG00000156711 mitogen-activated protein kinase 13 MAPK13 PRKM13, SAPK4, p38delta Yes No Comparative Toxicogenomics Database:5603, Ensembl:ENSG00000156711, GenAtlas:MAPK13, GeneCard:MAPK13, HGNC:HGNC:6875, HumanCyc Gene:HS08149, ModBase:O15264, NCBI Gene:5603, OMIM:602899, RefSeq DNA:NT_007592, RefSeq Protein:NP_002745, RefSeq RNA:NM_002754, UCSC Genome Browser:NM_002754, UniProtKB:O15264 No chr6 36098261 36112301 36130484 36144524 +PA30621 1432 HGNC:6876 ENSG00000112062 mitogen-activated protein kinase 14 MAPK14 p38 MAP kinase CSBP1, CSBP2, CSPB1, Mxi2, PRKM14, PRKM15, p38 Yes Yes Comparative Toxicogenomics Database:1432, Ensembl:ENSG00000112062, GenAtlas:MAPK14, GeneCard:MAPK14, HGNC:HGNC:6876, HumanCyc Gene:HS03507, ModBase:Q16539, NCBI Gene:1432, OMIM:600289, RefSeq DNA:NT_007592, RefSeq Protein:NP_001306, RefSeq Protein:NP_620581, RefSeq Protein:NP_620582, RefSeq Protein:NP_620583, RefSeq RNA:NM_001315, RefSeq RNA:NM_139012, RefSeq RNA:NM_139013, RefSeq RNA:NM_139014, UCSC Genome Browser:NM_001315, UniProtKB:Q16539 No chr6 35995412 36079013 36027635 36122964 +PA142671478 225689 HGNC:24667 ENSG00000181085 mitogen-activated protein kinase 15 MAPK15 extracellular signal regulated kinase 8 ERK7, ERK8 Yes No Ensembl:ENSG00000181085, GeneCard:MAPK15, HGNC:HGNC:24667, HumanCyc Gene:HS11573, ModBase:Q8TD08, NCBI Gene:225689, RefSeq DNA:NT_008046, RefSeq Protein:NP_620590, RefSeq RNA:NM_139021, UniProtKB:Q8TD08 No chr8 +PA162395015 93487 HGNC:19840 ENSG00000168175 mitogen-activated protein kinase 1 interacting protein 1 like MAPK1IP1L mitogen-activated protein kinase 1 interacting protein 1-like C14orf32 Yes No Ensembl:ENSG00000168175, GeneCard:MAPK1IP1L, HGNC:HGNC:19840, HumanCyc Gene:HS15644, ModBase:Q8NDC0, NCBI Gene:93487, RefSeq DNA:NT_026437, RefSeq Protein:NP_653179, RefSeq RNA:NM_144578, UniProtKB:Q8NDC0 No chr14 55518362 55536912 55051608 55070194 +PA30622 5595 HGNC:6877 ENSG00000102882 mitogen-activated protein kinase 3 MAPK3 ERK1, PRKM3, p44erk1, p44mapk Yes No Comparative Toxicogenomics Database:5595, Ensembl:ENSG00000102882, GenAtlas:MAPK3, GeneCard:MAPK3, HGNC:HGNC:6877, HumanCyc Gene:HS02421, ModBase:P27361, NCBI Gene:5595, OMIM:601795, RefSeq DNA:NT_010393, RefSeq Protein:NP_001035145, RefSeq Protein:NP_001103361, RefSeq Protein:NP_002737, RefSeq RNA:NM_001040056, RefSeq RNA:NM_001109891, RefSeq RNA:NM_002746, UniProtKB:A8CZ58, UniProtKB:P27361, UniProtKB:Q8NHX1, UniProtKB:Q9BWJ1 No chr16 30125426 30134630 30114105 30123309 +PA30623 5596 HGNC:6878 ENSG00000141639 mitogen-activated protein kinase 4 MAPK4 Erk3-related, Erk4, PRKM4 Yes No Comparative Toxicogenomics Database:5596, Ensembl:ENSG00000141639, GenAtlas:MAPK4, GeneCard:MAPK4, HGNC:HGNC:6878, HumanCyc Gene:HS06857, ModBase:P31152, NCBI Gene:5596, OMIM:176949, RefSeq DNA:NT_010966, RefSeq Protein:NP_002738, RefSeq RNA:NM_002747, UCSC Genome Browser:NM_002747, UniProtKB:A1A4C4, UniProtKB:P31152, UniProtKB:Q0VG04 No chr18 48086484 48258196 50559781 50731826 +PA30624 5597 HGNC:6879 ENSG00000069956 mitogen-activated protein kinase 6 MAPK6 ERK3, HsT17250, PRKM6, p97MAPK Yes No Comparative Toxicogenomics Database:5597, Ensembl:ENSG00000069956, GenAtlas:MAPK6, GeneCard:MAPK6, HGNC:HGNC:6879, HumanCyc Gene:HS00975, ModBase:Q16659, NCBI Gene:5597, OMIM:602904, RefSeq DNA:NT_010194, RefSeq Protein:NP_002739, RefSeq RNA:NM_002748, UCSC Genome Browser:NM_002748, UniProtKB:Q16659 No chr15 52296377 52358462 52004265 52066265 +PA30625 5598 HGNC:6880 ENSG00000166484 mitogen-activated protein kinase 7 MAPK7 BMK1 kinase, extracellular-signal-regulated kinase 5 BMK1, ERK5, PRKM7 Yes No Comparative Toxicogenomics Database:5598, Ensembl:ENSG00000166484, GenAtlas:MAPK7, GeneCard:MAPK7, HGNC:HGNC:6880, HumanCyc Gene:HS09407, ModBase:Q13164, NCBI Gene:5598, OMIM:602521, RefSeq DNA:NT_010718, RefSeq Protein:NP_002740, RefSeq Protein:NP_620601, RefSeq Protein:NP_620602, RefSeq Protein:NP_620603, RefSeq RNA:NM_002749, RefSeq RNA:NM_139032, RefSeq RNA:NM_139033, RefSeq RNA:NM_139034, UCSC Genome Browser:NM_002749, UniProtKB:Q13164 No chr17 19281034 19286857 19377721 19383544 +PA283 5599 HGNC:6881 ENSG00000107643 mitogen-activated protein kinase 8 MAPK8 JUN N-terminal kinase JNK, JNK1, PRKM8, SAPK1 Yes No Comparative Toxicogenomics Database:5599, Ensembl:ENSG00000107643, GenAtlas:MAPK8, GeneCard:MAPK8, HGNC:HGNC:6881, HumanCyc Gene:HS03015, ModBase:P45983, NCBI Gene:5599, OMIM:601158, RefSeq DNA:NT_030059, RefSeq Protein:NP_002741, RefSeq Protein:NP_620634, RefSeq Protein:NP_620635, RefSeq Protein:NP_620637, RefSeq RNA:NM_002750, RefSeq RNA:NM_139046, RefSeq RNA:NM_139047, RefSeq RNA:NM_139049, UCSC Genome Browser:NM_002750, UniProtKB:A1L4K2, UniProtKB:P45983 No chr10 49514682 49647403 48306639 48439360 +PA30626 9479 HGNC:6882 ENSG00000121653 mitogen-activated protein kinase 8 interacting protein 1 MAPK8IP1 IB1, JIP-1, JIP1, PRKM8IP Yes No Comparative Toxicogenomics Database:9479, Ensembl:ENSG00000121653, GenAtlas:MAPK8IP1, GeneCard:MAPK8IP1, HGNC:HGNC:6882, HumanCyc Gene:HS04509, ModBase:Q9UQF2, NCBI Gene:9479, OMIM:125853, OMIM:604641, RefSeq DNA:NG_012153, RefSeq DNA:NT_009237, RefSeq DNA:NT_167251, RefSeq Protein:NP_005447, RefSeq RNA:NM_005456, UCSC Genome Browser:NM_005456, UniProtKB:Q9UQF2 No chr11 45907047 45928016 45885496 45906465 +PA30627 23542 HGNC:6883 ENSG00000008735 mitogen-activated protein kinase 8 interacting protein 2 MAPK8IP2 JNK-interacting protein 2, islet-brain 2 IB2, JIP2, PRKM8IPL Yes No Comparative Toxicogenomics Database:23542, Ensembl:ENSG00000008735, GenAtlas:MAPK8IP2, GeneCard:MAPK8IP2, HGNC:HGNC:6883, HumanCyc Gene:HS00255, ModBase:Q13387, NCBI Gene:23542, OMIM:607755, RefSeq DNA:NT_011526, RefSeq Protein:NP_036456, RefSeq Protein:NP_057515, RefSeq RNA:NM_012324, RefSeq RNA:NM_016431, UCSC Genome Browser:NM_012324, UniProtKB:Q13387 No chr22 51039131 51049979 50600685 50613978 +PA30628 23162 HGNC:6884 ENSG00000138834 mitogen-activated protein kinase 8 interacting protein 3 MAPK8IP3 homolog of Drosophila Sunday driver 2 JIP3, JSAP1, KIAA1066, syd Yes No Comparative Toxicogenomics Database:23162, Ensembl:ENSG00000138834, GenAtlas:MAPK8IP3, GeneCard:MAPK8IP3, HGNC:HGNC:6884, HumanCyc Gene:HS06573, ModBase:Q9UPT6, NCBI Gene:23162, OMIM:605431, RefSeq DNA:NT_010393, RefSeq Protein:NP_001035529, RefSeq Protein:NP_055948, RefSeq RNA:NM_001040439, RefSeq RNA:NM_015133, UCSC Genome Browser:NM_015133, UniProtKB:Q9UPT6 No chr16 1756184 1820318 1706183 1770317 +PA30630 5601 HGNC:6886 ENSG00000050748 mitogen-activated protein kinase 9 MAPK9 Jun kinase JNK2, PRKM9, SAPK, p54a Yes No Comparative Toxicogenomics Database:5601, Ensembl:ENSG00000050748, GenAtlas:MAPK9, GeneCard:MAPK9, HGNC:HGNC:6886, HumanCyc Gene:HS00637, ModBase:P45984, NCBI Gene:5601, OMIM:602896, RefSeq DNA:NT_023133, RefSeq Protein:NP_001128516, RefSeq Protein:NP_002743, RefSeq Protein:NP_620707, RefSeq Protein:NP_620708, RefSeq Protein:NP_620709, RefSeq RNA:NM_001135044, RefSeq RNA:NM_002752, RefSeq RNA:NM_139068, RefSeq RNA:NM_139069, RefSeq RNA:NM_139070, UCSC Genome Browser:NM_002752, UniProtKB:B5M0B4, UniProtKB:P45984 No chr5 179660594 179719071 180233594 180292071 +PA38674 79109 HGNC:18752 ENSG00000119487 MAPK associated protein 1 MAPKAP1 mitogen-activated protein kinase associated protein 1, stress-activated protein kinase-interacting 1 MGC2745, MIP1, SIN1 Yes No Comparative Toxicogenomics Database:79109, Ensembl:ENSG00000119487, GenAtlas:MAPKAP1, GeneCard:MAPKAP1, HGNC:HGNC:18752, HumanCyc Gene:HS04302, ModBase:Q699U1, NCBI Gene:79109, OMIM:610558, RefSeq DNA:NT_008470, RefSeq Protein:NP_001006618, RefSeq Protein:NP_001006619, RefSeq Protein:NP_001006620, RefSeq Protein:NP_001006621, RefSeq Protein:NP_001006622, RefSeq Protein:NP_077022, RefSeq RNA:NM_001006617, RefSeq RNA:NM_001006618, RefSeq RNA:NM_001006619, RefSeq RNA:NM_001006620, RefSeq RNA:NM_001006621, RefSeq RNA:NM_024117, UCSC Genome Browser:NM_024117, UniProtKB:Q9BPZ7 No chr9 128199673 128469513 125437394 125707234 +PA30631 9261 HGNC:6887 ENSG00000162889 MAPK activated protein kinase 2 MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2 MK2 Yes No Comparative Toxicogenomics Database:9261, Ensembl:ENSG00000162889, GenAtlas:MAPKAPK2, GeneCard:MAPKAPK2, HGNC:HGNC:6887, HumanCyc Gene:HS08751, ModBase:P49137, NCBI Gene:9261, OMIM:602006, RefSeq DNA:NT_167186, RefSeq Protein:NP_004750, RefSeq Protein:NP_116584, RefSeq RNA:NM_004759, RefSeq RNA:NM_032960, UCSC Genome Browser:NM_004759, UniProtKB:P49137 No chr1 206858295 206907630 206684912 206734285 +PA30632 7867 HGNC:6888 ENSG00000114738 MAPK activated protein kinase 3 MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3 3PK, 3pK, MAPKAP3, MK-3, MK3 Yes No Comparative Toxicogenomics Database:7867, Ensembl:ENSG00000114738, GenAtlas:MAPKAPK3, GeneCard:MAPKAPK3, HGNC:HGNC:6888, HumanCyc Gene:HS03793, ModBase:Q16644, NCBI Gene:7867, OMIM:602130, RefSeq DNA:NT_022517, RefSeq Protein:NP_004626, RefSeq RNA:NM_004635, UCSC Genome Browser:NM_004635, UniProtKB:Q16644 No chr3 50649293 50686728 50611862 50649297 +PA30633 8550 HGNC:6889 ENSG00000089022 MAPK activated protein kinase 5 MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5 MK5, PRAK Yes No Comparative Toxicogenomics Database:8550, Ensembl:ENSG00000089022, GenAtlas:MAPKAPK5, GeneCard:MAPKAPK5, HGNC:HGNC:6889, HumanCyc Gene:HS01625, ModBase:Q8IW41, NCBI Gene:8550, OMIM:606723, RefSeq DNA:NT_009775, RefSeq Protein:NP_003659, RefSeq Protein:NP_620777, RefSeq RNA:NM_003668, RefSeq RNA:NM_139078, UCSC Genome Browser:NM_003668, UniProtKB:Q8IW41 No chr12 112280032 112331228 111842228 111902225 +PA143485377 51275 HGNC:24091 ENSG00000234608 MAPKAPK5 antisense RNA 1 MAPKAPK5-AS1 FLJ39616 Yes No Ensembl:ENSG00000234608, GeneCard:C12orf47, HGNC:HGNC:24091, NCBI Gene:51275, RefSeq DNA:NT_009775, RefSeq RNA:NR_015404 No chr12 112277571 112280706 111839769 111842902 +PA142671479 23005 HGNC:29536 ENSG00000137802 mitogen-activated protein kinase binding protein 1 MAPKBP1 KIAA0596, NPHP20 Yes No Ensembl:ENSG00000137802, GeneCard:MAPKBP1, HGNC:HGNC:29536, ModBase:O60336, NCBI Gene:23005, RefSeq DNA:NT_010194, RefSeq Protein:NP_001122080, RefSeq Protein:NP_055809, RefSeq RNA:NM_001128608, RefSeq RNA:NM_014994, UniProtKB:O60336 No chr15 42066632 42120053 41774434 41827855 +PA30634 22919 HGNC:6890 ENSG00000101367 microtubule associated protein RP/EB family member 1 MAPRE1 """adenomatous polyposis coli-binding protein EB1"", ""microtubule-associated protein, RP/EB family, member 1""" EB1 Yes No Comparative Toxicogenomics Database:22919, Ensembl:ENSG00000101367, GenAtlas:MAPRE1, GeneCard:MAPRE1, HGNC:HGNC:6890, HumanCyc Gene:HS02255, ModBase:Q15691, NCBI Gene:22919, OMIM:603108, RefSeq DNA:NT_011362, RefSeq Protein:NP_036457, RefSeq RNA:NM_012325, UCSC Genome Browser:NM_012325, UniProtKB:Q15691 No chr20 31407699 31438211 32819780 32850405 +PA30635 10982 HGNC:6891 ENSG00000166974 microtubule associated protein RP/EB family member 2 MAPRE2 """APC-binding protein EB1"", ""microtubule-associated protein, RP/EB family, member 2""" EB1, EB2, RP1 Yes No Comparative Toxicogenomics Database:10982, Ensembl:ENSG00000166974, GenAtlas:MAPRE2, GeneCard:MAPRE2, HGNC:HGNC:6891, HumanCyc Gene:HS09493, ModBase:Q15555, NCBI Gene:10982, OMIM:605789, RefSeq DNA:NT_010966, RefSeq Protein:NP_001137298, RefSeq Protein:NP_001137299, RefSeq Protein:NP_055083, RefSeq RNA:NM_001143826, RefSeq RNA:NM_001143827, RefSeq RNA:NM_014268, RefSeq RNA:NR_026570, UCSC Genome Browser:NM_014268, UniProtKB:Q15555 No chr18 32556892 32723434 34976928 35143470 +PA30636 22924 HGNC:6892 ENSG00000084764 microtubule associated protein RP/EB family member 3 MAPRE3 microtubule-associated protein, RP/EB family, member 3 EB3, RP3 Yes No Comparative Toxicogenomics Database:22924, Ensembl:ENSG00000084764, GenAtlas:MAPRE3, GeneCard:MAPRE3, HGNC:HGNC:6892, HumanCyc Gene:HS01482, ModBase:Q9UPY8, NCBI Gene:22924, OMIM:605788, RefSeq DNA:NT_022184, RefSeq Protein:NP_036458, RefSeq RNA:NM_012326, UCSC Genome Browser:NM_012326, UniProtKB:Q6FHB0, UniProtKB:Q9UPY8 No chr2 27193525 27250087 26970371 27027219 +PA238 4137 HGNC:6893 ENSG00000186868 microtubule associated protein tau MAPT """G protein beta1/gamma2 subunit-interacting factor 1"", ""Tau-derived paired helical filament hexapeptide"", ""microtubule-associated protein tau"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103""" DDPAC, FLJ31424, FTDP-17, MAPTL, MGC138549, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, Tau-PHF6, tau, tau-40 Yes Yes Comparative Toxicogenomics Database:4137, Ensembl:ENSG00000186868, GenAtlas:MAPT, GeneCard:MAPT, HGNC:HGNC:6893, HumanCyc Gene:HS00169, NCBI Gene:4137, OMIM:157140, OMIM:168600, OMIM:172700, OMIM:260540, OMIM:600274, OMIM:601104, RefSeq DNA:NG_007398, RefSeq DNA:NT_010783, RefSeq DNA:NT_167251, RefSeq Protein:NP_001116538, RefSeq Protein:NP_001116539, RefSeq Protein:NP_001190180, RefSeq Protein:NP_001190181, RefSeq Protein:NP_005901, RefSeq Protein:NP_058518, RefSeq Protein:NP_058519, RefSeq Protein:NP_058525, RefSeq Protein:XP_003403649, RefSeq Protein:XP_003403650, RefSeq Protein:XP_003403651, RefSeq Protein:XP_003403652, RefSeq Protein:XP_003403653, RefSeq Protein:XP_003403654, RefSeq Protein:XP_003403655, RefSeq Protein:XP_003403656, RefSeq Protein:XP_003403657, RefSeq RNA:NM_001123066, RefSeq RNA:NM_001123067, RefSeq RNA:NM_001203251, RefSeq RNA:NM_001203252, RefSeq RNA:NM_005910, RefSeq RNA:NM_016834, RefSeq RNA:NM_016835, RefSeq RNA:NM_016841, RefSeq RNA:XM_003403601, RefSeq RNA:XM_003403602, RefSeq RNA:XM_003403603, RefSeq RNA:XM_003403604, RefSeq RNA:XM_003403605, RefSeq RNA:XM_003403606, RefSeq RNA:XM_003403607, RefSeq RNA:XM_003403608, RefSeq RNA:XM_003403609, UCSC Genome Browser:NM_005910, UniProtKB:C9JR34, UniProtKB:P10636 No chr17 43971702 44105700 45894382 46028334 +PA134986392 55016 HGNC:26077 membrane associated ring-CH-type finger 1 MARCHF1 """E3 ubiquitin-protein ligase MARCHF1"", ""membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase""" FLJ20668, MARCH-I, MARCH1, RNF171 Yes Yes Comparative Toxicogenomics Database:55016, GeneCard:MARCH1, HGNC:HGNC:26077, HumanCyc Gene:HS14091, ModBase:Q8TCQ1, NCBI Gene:55016, OMIM:613331, RefSeq DNA:NT_016354, RefSeq Protein:NP_001159845, RefSeq Protein:NP_060393, RefSeq RNA:NM_001166373, RefSeq RNA:NM_017923, UniProtKB:A8K0Z6, UniProtKB:Q8TCQ1 No chr4 164445450 165305093 163524298 164384050 +PA166351956 162333 HGNC:26655 membrane associated ring-CH-type finger 10 MARCHF10 ring finger protein 190 FLJ35757, MARCH-X, MARCH10, RNF190 Yes No HGNC:HGNC:26655, NCBI Gene:162333 No 0 0 0 0 +PA166351957 441061 HGNC:33609 membrane associated ring-CH-type finger 11 MARCHF11 E3 ubiquitin-protein ligase MARCHF11, ring finger protein 226 MARCH-XI, MARCH11, RNF226 Yes No HGNC:HGNC:33609, NCBI Gene:441061 No 0 0 0 0 +PA166351950 51257 HGNC:28038 membrane associated ring-CH-type finger 2 MARCHF2 E3 ubiquitin-protein ligase MARCHF2, ring finger protein 172 HSPC240, MARCH-II, MARCH2, RNF172 Yes No HGNC:HGNC:28038, NCBI Gene:51257 No 0 0 0 0 +PA166351951 115123 HGNC:28728 membrane associated ring-CH-type finger 3 MARCHF3 E3 ubiquitin-protein ligase MARCHF3, ring finger protein 173 MARCH-III, MARCH3, MGC48332, RNF173 Yes No HGNC:HGNC:28728, NCBI Gene:115123 No 0 0 0 0 +PA166351952 57574 HGNC:29269 membrane associated ring-CH-type finger 4 MARCHF4 E3 ubiquitin-protein ligase MARCHF4, ring finger protein 174 KIAA1399, MARCH-IV, MARCH4, RNF174 Yes No HGNC:HGNC:29269, NCBI Gene:57574 No 0 0 0 0 +PA128394672 54708 HGNC:26025 membrane associated ring-CH-type finger 5 MARCHF5 E3 ubiquitin-protein ligase MARCHF5, membrane-associated ring finger (C3HC4) 5, mitochondrial ubiquitin ligase, ring finger protein 153 FLJ20445, MARCH-V, MARCH5, MITOL, RNF153 Yes No Comparative Toxicogenomics Database:54708, GeneCard:MARCH5, HGNC:HGNC:26025, ModBase:Q9NX47, NCBI Gene:54708, OMIM:610637, RefSeq DNA:NT_030059, RefSeq Protein:NP_060294, RefSeq RNA:NM_017824, UCSC Genome Browser:NM_017824, UniProtKB:Q9NX47 No chr10 94050920 94113721 92291163 92353964 +PA166351953 10299 HGNC:30550 membrane associated ring-CH-type finger 6 MARCHF6 E3 ubiquitin-protein ligase MARCHF6, ring finger protein 176 MARCH-VI, MARCH6, RNF176, TEB4 Yes No HGNC:HGNC:30550, NCBI Gene:10299 No 0 0 0 0 +PA166351954 64844 HGNC:17393 membrane associated ring-CH-type finger 7 MARCHF7 E3 ubiquitin-protein ligase MARCHF7, ring finger protein 177 AXOT, MARCH-VII, MARCH7, RNF177 Yes No HGNC:HGNC:17393, NCBI Gene:64844 No 0 0 0 0 +PA166351955 220972 HGNC:23356 membrane associated ring-CH-type finger 8 MARCHF8 E3 ubiquitin-protein ligase MARCHF8, ring finger protein 178 CMIR, MARCH-VIII, MARCH8, MIR, RNF178, c-MIR Yes No HGNC:HGNC:23356, NCBI Gene:220972 No 0 0 0 0 +PA134920045 92979 HGNC:25139 membrane associated ring-CH-type finger 9 MARCHF9 E3 ubiquitin-protein ligase MARCHF9, membrane-associated ring finger (C3HC4) 9, ring finger protein 179 FLJ36578, MARCH9, RNF179 Yes No Comparative Toxicogenomics Database:92979, GeneCard:MARCH9, HGNC:HGNC:25139, HumanCyc Gene:HS13770, ModBase:Q86YJ5, NCBI Gene:92979, OMIM:613336, RefSeq DNA:NT_029419, RefSeq Protein:NP_612405, RefSeq RNA:NM_138396, UniProtKB:Q86YJ5, UniProtKB:Q8N9T1 No chr12 58148881 58154193 57755098 57760410 +PA30637 4082 HGNC:6759 ENSG00000277443 myristoylated alanine rich protein kinase C substrate MARCKS myristoylated alanine-rich protein kinase C substrate 80K-L, MACS, PKCSL Yes No Comparative Toxicogenomics Database:4082, Ensembl:ENSG00000277443, GenAtlas:MARCKS, GeneCard:MARCKS, HGNC:HGNC:6759, HumanCyc Gene:HS08032, ModBase:P29966, NCBI Gene:4082, OMIM:177061, RefSeq DNA:NT_025741, RefSeq Protein:NP_002347, RefSeq RNA:NM_002356, UCSC Genome Browser:NM_002356, UniProtKB:P29966 No chr6 114178527 114184652 113857335 113863475 +PA30857 65108 HGNC:7142 ENSG00000175130 MARCKS like 1 MARCKSL1 MARCKS-like 1 F52, MLP, MLP1, MacMARCKS Yes No Comparative Toxicogenomics Database:65108, Ensembl:ENSG00000175130, GenAtlas:MARCKSL1, GeneCard:MARCKSL1, HGNC:HGNC:7142, HumanCyc Gene:HS10884, ModBase:P49006, NCBI Gene:65108, OMIM:602940, RefSeq DNA:NT_032977, RefSeq Protein:NP_075385, RefSeq RNA:NM_023009, UCSC Genome Browser:NM_023009, UniProtKB:P49006 No chr1 32799430 32801840 32333829 32336239 +PA30519 4083 HGNC:6760 myristoylated alanine-rich protein kinase C substrate pseudogene 1 MARCKSP1 Yes No GenAtlas:MACSL1, GeneCard:MARCKSP1, HGNC:HGNC:6760, NCBI Gene:4083, RefSeq DNA:NG_007487, RefSeq DNA:NT_011512 No chr21 27599849 27608197 26227560 26235914 +PA30638 8685 HGNC:6895 ENSG00000019169 macrophage receptor with collagenous structure MARCO scavenger receptor class A, member 2 SCARA2, SR-A6 Yes No Comparative Toxicogenomics Database:8685, Ensembl:ENSG00000019169, GenAtlas:MARCO, GeneCard:MARCO, HGNC:HGNC:6895, HumanCyc Gene:HS00394, ModBase:Q9UEW3, NCBI Gene:8685, OMIM:604870, RefSeq DNA:NT_022135, RefSeq Protein:NP_006761, RefSeq RNA:NM_006770, UCSC Genome Browser:NM_006770, UniProtKB:Q4ZG40, UniProtKB:Q9UEW3 No chr2 119699745 119752236 118942166 118994664 +PA166181558 105378220 HGNC:53644 ENSG00000248109 MARCO like MARCOL Yes No Ensembl:ENSG00000248109, HGNC:HGNC:53644, NCBI Gene:105378220 No 0 0 0 0 +PA145148631 9665 HGNC:29562 ENSG00000166783 meiosis regulator and mRNA stability factor 1 MARF1 """limkain b1"", ""meiosis arrest female 1"", ""protein phosphatase 1, regulatory subunit 34""" KIAA0430, LKAP, LMKB, Marf1, PPP1R34 Yes No Ensembl:ENSG00000166783, GeneCard:KIAA0430, HGNC:HGNC:29562, HumanCyc Gene:HS09450, NCBI Gene:9665, RefSeq DNA:NG_021407, RefSeq DNA:NT_010393, RefSeq Protein:NP_001171927, RefSeq Protein:NP_001171928, RefSeq Protein:NP_055462, RefSeq RNA:NM_001184998, RefSeq RNA:NM_001184999, RefSeq RNA:NM_014647, UniProtKB:Q9Y4F3 No chr16 15688226 15737023 15594369 15643166 +PA30639 4139 HGNC:6896 ENSG00000116141 microtubule affinity regulating kinase 1 MARK1 MAP/microtubule affinity-regulating kinase 1 MARK, PAR-1C Yes No Comparative Toxicogenomics Database:4139, Ensembl:ENSG00000116141, GenAtlas:MARK1, GeneCard:MARK1, HGNC:HGNC:6896, HumanCyc Gene:HS03987, ModBase:Q9P0L2, NCBI Gene:4139, OMIM:606511, RefSeq DNA:NT_167186, RefSeq Protein:NP_061120, RefSeq RNA:NM_018650, UCSC Genome Browser:NM_018650, UniProtKB:Q9P0L2 No chr1 220701568 220837799 220528183 220664457 +PA35047 2011 HGNC:3332 ENSG00000072518 microtubule affinity regulating kinase 2 MARK2 ELKL motif kinase 1, MAP/microtubule affinity-regulating kinase 2, Ser/Thr protein kinase PAR-1B, protein-serine/threonine kinase, serine/threonine kinase EMK1, PAR-1, PAR-1B, Par1b Yes No Comparative Toxicogenomics Database:2011, Ensembl:ENSG00000072518, GenAtlas:MARK2, GeneCard:MARK2, HGNC:HGNC:3332, HumanCyc Gene:HS01072, ModBase:Q7KZI7, NCBI Gene:2011, OMIM:600526, RefSeq DNA:NT_167190, RefSeq Protein:NP_001034557, RefSeq Protein:NP_001034558, RefSeq Protein:NP_001156768, RefSeq Protein:NP_001156769, RefSeq Protein:NP_004945, RefSeq Protein:NP_059672, RefSeq RNA:NM_001039468, RefSeq RNA:NM_001039469, RefSeq RNA:NM_001163296, RefSeq RNA:NM_001163297, RefSeq RNA:NM_004954, RefSeq RNA:NM_017490, UCSC Genome Browser:NM_004954, UniProtKB:A8K2S4, UniProtKB:Q7KZI7 No chr11 63606400 63678492 63838928 63911020 +PA30640 4140 HGNC:6897 ENSG00000075413 microtubule affinity regulating kinase 3 MARK3 MAP/microtubule affinity-regulating kinase 3 CTAK1, KP78, PAR-1A Yes No Comparative Toxicogenomics Database:4140, Ensembl:ENSG00000075413, GenAtlas:MARK3, GeneCard:MARK3, HGNC:HGNC:6897, HumanCyc Gene:HS01177, ModBase:P27448, NCBI Gene:4140, OMIM:602678, RefSeq DNA:NT_026437, RefSeq Protein:NP_001122390, RefSeq Protein:NP_001122391, RefSeq Protein:NP_001122392, RefSeq Protein:NP_001122393, RefSeq Protein:NP_002367, RefSeq RNA:NM_001128918, RefSeq RNA:NM_001128919, RefSeq RNA:NM_001128920, RefSeq RNA:NM_001128921, RefSeq RNA:NM_002376, UCSC Genome Browser:NM_002376, UniProtKB:P27448, UniProtKB:Q86TT8, UniProtKB:Q86U11 No chr14 103851701 103970168 103385364 103503831 +PA30641 57787 HGNC:13538 ENSG00000007047 microtubule affinity regulating kinase 4 MARK4 MAP/microtubule affinity-regulating kinase 4 FLJ90097, KIAA1860, MARKL1, Nbla00650, PAR-1D Yes No Comparative Toxicogenomics Database:57787, Ensembl:ENSG00000007047, GenAtlas:MARK4, GeneCard:MARK4, HGNC:HGNC:13538, HumanCyc Gene:HS00202, ModBase:Q96L34, NCBI Gene:57787, OMIM:606495, RefSeq DNA:NT_011109, RefSeq Protein:NP_001186796, RefSeq Protein:NP_113605, RefSeq RNA:NM_001199867, RefSeq RNA:NM_031417, UCSC Genome Browser:NM_031417, UniProtKB:Q96L34 No chr19 45754516 45808541 45251258 45305283 +PA30642 4141 HGNC:6898 methionyl-tRNA synthetase 1 MARS1 """Methionine--tRNA ligase, cytoplasmic"", ""methionine tRNA ligase 1, cytoplasmic"", ""methionyl-tRNA synthetase""" CMT2U, MARS, MetRS, SPG70 Yes No Comparative Toxicogenomics Database:4141, GenAtlas:MARS, GeneCard:MARS, HGNC:HGNC:6898, HumanCyc Gene:HS09496, ModBase:P56192, NCBI Gene:4141, OMIM:156560, RefSeq DNA:NT_029419, RefSeq Protein:NP_004981, RefSeq RNA:NM_004990, UCSC Genome Browser:NM_004990, UniProtKB:P56192 No chr12 57881736 57910438 57487953 57516655 +PA134863396 92935 HGNC:25133 ENSG00000247626 methionyl-tRNA synthetase 2, mitochondrial MARS2 methionine tRNA ligase 2, mitochondrial SPAX3, mtMetRS Yes No Comparative Toxicogenomics Database:92935, Ensembl:ENSG00000247626, GeneCard:MARS2, HGNC:HGNC:25133, HumanCyc Gene:HS07813, ModBase:Q96GW9, NCBI Gene:92935, OMIM:609728, RefSeq DNA:NT_005403, RefSeq Protein:NP_612404, RefSeq RNA:NM_138395, UniProtKB:Q96GW9 No chr2 198570028 198573114 197705304 197708390 +PA134937190 83742 HGNC:28674 ENSG00000155254 MARVEL domain containing 1 MARVELD1 occludin FLJ22343, FLJ23440, GB14, MGC4415, MRVLDC1, bA548K23.8 Yes No Comparative Toxicogenomics Database:83742, Ensembl:ENSG00000155254, GeneCard:MARVELD1, HGNC:HGNC:28674, HumanCyc Gene:HS14558, NCBI Gene:83742, RefSeq DNA:NT_030059, RefSeq Protein:NP_113672, RefSeq RNA:NM_031484, RefSeq RNA:NR_026753, UniProtKB:Q9BSK0 No chr10 99473465 99477909 97713708 97718152 +PA134954584 153562 HGNC:26401 ENSG00000152939 MARVEL domain containing 2 MARVELD2 tricellulin DFNB49, FLJ30532, MRVLDC2, TRIC Yes No Comparative Toxicogenomics Database:153562, Ensembl:ENSG00000152939, GeneCard:MARVELD2, HGNC:HGNC:26401, HumanCyc Gene:HS14449, ModBase:Q8N4S9, NCBI Gene:153562, OMIM:610153, OMIM:610572, RefSeq DNA:NG_017201, RefSeq DNA:NT_006713, RefSeq Protein:NP_001033692, RefSeq Protein:NP_653325, RefSeq RNA:NM_001038603, RefSeq RNA:NM_144724, UniProtKB:Q8N4S9 No chr5 68710939 68738701 69415112 69444022 +PA134986126 91862 HGNC:30525 ENSG00000140832 MARVEL domain containing 3 MARVELD3 MRVLDC3 Yes No Comparative Toxicogenomics Database:91862, Ensembl:ENSG00000140832, GeneCard:MARVELD3, HGNC:HGNC:30525, HumanCyc Gene:HS06764, ModBase:Q96A59, NCBI Gene:91862, RefSeq DNA:NT_010498, RefSeq Protein:NP_001017967, RefSeq Protein:NP_443090, RefSeq RNA:NM_001017967, RefSeq RNA:NM_052858, UniProtKB:Q96A59 No chr16 71660056 71675868 71626137 71641965 +PA30643 4142 HGNC:6899 ENSG00000130368 MAS1 proto-oncogene, G protein-coupled receptor MAS1 MAS1 oncogene Yes No Comparative Toxicogenomics Database:4142, Ensembl:ENSG00000130368, GenAtlas:MAS1, GeneCard:MAS1, HGNC:HGNC:6899, HumanCyc Gene:HS05376, IUPHAR Receptor:150, ModBase:P04201, NCBI Gene:4142, OMIM:165180, RefSeq DNA:NT_025741, RefSeq Protein:NP_002368, RefSeq RNA:NM_002377, UCSC Genome Browser:NM_002377, UniProtKB:P04201 No chr6 160320218 160329339 159906942 159908076 +PA134912067 116511 HGNC:13961 ENSG00000204687, ENSG00000206470, ENSG00000206515, ENSG00000228377, ENSG00000228515, ENSG00000233141, ENSG00000234954, ENSG00000237284 MAS1 proto-oncogene like, G protein-coupled receptor MAS1L MAS1 oncogene-like MAS-L, MRG, dJ994E9.2 Yes No Ensembl:ENSG00000204687, Ensembl:ENSG00000206470, Ensembl:ENSG00000206515, Ensembl:ENSG00000228377, Ensembl:ENSG00000228515, Ensembl:ENSG00000233141, Ensembl:ENSG00000234954, Ensembl:ENSG00000237284, GeneCard:MAS1L, HGNC:HGNC:13961, IUPHAR Receptor:151, ModBase:P35410, NCBI Gene:116511, OMIM:607235, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_443199, RefSeq RNA:NM_052967, UniProtKB:P35410, UniProtKB:Q5SUN5 No chr6 29454543 29455679 29486766 29487902 +PA162395056 646366 HGNC:33448 ENSG00000230164 MAS1 oncogene-like pseudogene 1 MAS1LP1 OTTHUMG00000086553 Yes No Ensembl:ENSG00000230164, HGNC:HGNC:33448, NCBI Gene:646366, RefSeq DNA:NG_009738, RefSeq DNA:NT_007592, RefSeq DNA:NT_007592.14, RefSeq Protein:XP_934385, RefSeq Protein:XP_934385.1, RefSeq Protein:XP_945789, RefSeq Protein:XP_945789.1, RefSeq RNA:XM_929292, RefSeq RNA:XM_929292.1, RefSeq RNA:XM_940696, RefSeq RNA:XM_940696.1 No chr6 29442802 29443848 29475025 29476071 +PA30644 5648 HGNC:6901 ENSG00000127241 MBL associated serine protease 1 MASP1 C4/C2 activating component of Ra-reactive factor, mannan binding lectin serine peptidase 1, mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor), mannose-binding lectin-associated serine protease 1 CRARF, MAP-1, MASP, MASP-3, Map44, PRSS5 Yes No Comparative Toxicogenomics Database:5648, Ensembl:ENSG00000127241, GenAtlas:MASP1, GeneCard:MASP1, HGNC:HGNC:6901, HumanCyc Gene:HS05079, ModBase:Q9UF09, NCBI Gene:5648, OMIM:600521, RefSeq DNA:NT_005612, RefSeq Protein:NP_001027019, RefSeq Protein:NP_001870, RefSeq Protein:NP_624302, RefSeq RNA:NM_001031849, RefSeq RNA:NM_001879, RefSeq RNA:NM_139125, RefSeq RNA:NR_033519, UCSC Genome Browser:NM_001879, UniProtKB:P48740 No chr3 186933873 187009810 187216085 187292220 +PA30645 10747 HGNC:6902 ENSG00000009724 MBL associated serine protease 2 MASP2 mannan binding lectin serine peptidase 2, mannan-binding lectin serine peptidase 2, mannose-binding lectin associated protein 19, mannose-binding lectin-associated serine protease 2 MAP-2, MASP1P1, Map19, sMAP Yes No Comparative Toxicogenomics Database:10747, Ensembl:ENSG00000009724, GenAtlas:MASP2, GeneCard:MASP2, HGNC:HGNC:6902, HumanCyc Gene:HS00265, ModBase:Q9UBP3, NCBI Gene:10747, OMIM:605102, RefSeq DNA:NG_007289, RefSeq DNA:NT_021937, RefSeq Protein:NP_006601, RefSeq Protein:NP_631947, RefSeq RNA:NM_006610, RefSeq RNA:NM_139208, UCSC Genome Browser:NM_006610, UniProtKB:O00187 No chr1 11086580 11107296 11026523 11047239 +PA134946727 22983 HGNC:19034 ENSG00000105613 microtubule associated serine/threonine kinase 1 MAST1 KIAA0973, SAST Yes No Ensembl:ENSG00000105613, GeneCard:MAST1, HGNC:HGNC:19034, ModBase:Q9Y2H9, NCBI Gene:22983, OMIM:612256, RefSeq DNA:NT_011295, RefSeq Protein:NP_055790, RefSeq RNA:NM_014975, UniProtKB:Q9Y2H9 No chr19 12949259 12985766 12833931 12874953 +PA134954073 23139 HGNC:19035 ENSG00000086015 microtubule associated serine/threonine kinase 2 MAST2 KIAA0807, MAST205 Yes No Comparative Toxicogenomics Database:23139, Ensembl:ENSG00000086015, GeneCard:MAST2, HGNC:HGNC:19035, HumanCyc Gene:HS01517, ModBase:Q6P0Q8, NCBI Gene:23139, OMIM:612257, RefSeq DNA:NT_032977, RefSeq DNA:NT_167245, RefSeq Protein:NP_055927, RefSeq RNA:NM_015112, UniProtKB:Q6P0Q8 No chr1 46269269 46501796 45786992 46036124 +PA134877725 23031 HGNC:19036 ENSG00000099308 microtubule associated serine/threonine kinase 3 MAST3 KIAA0561 Yes No Ensembl:ENSG00000099308, GeneCard:MAST3, HGNC:HGNC:19036, ModBase:O60307, NCBI Gene:23031, OMIM:612258, RefSeq DNA:NT_011295, RefSeq Protein:NP_055831, RefSeq RNA:NM_015016, UniProtKB:O60307 No chr19 18208585 18262502 18097764 18151692 +PA134920494 375449 HGNC:19037 ENSG00000069020 microtubule associated serine/threonine kinase family member 4 MAST4 KIAA0303 Yes No Ensembl:ENSG00000069020, GeneCard:MAST4, HGNC:HGNC:19037, NCBI Gene:375449, RefSeq DNA:NT_006713, RefSeq Protein:NP_001158136, RefSeq Protein:NP_055998, RefSeq Protein:NP_942123, RefSeq RNA:NM_001164664, RefSeq RNA:NM_015183, RefSeq RNA:NM_198828, UniProtKB:B5MCH9, UniProtKB:O15021 No chr5 65892176 66465426 66596348 67169595 +PA134943781 84930 HGNC:19042 ENSG00000120539 microtubule associated serine/threonine kinase like MASTL greatwall kinase homolog, microtubule associated serine/threonine kinase-like FLJ14813, Gwl, THC2 Yes No Comparative Toxicogenomics Database:84930, Ensembl:ENSG00000120539, GeneCard:MASTL, HGNC:HGNC:19042, HumanCyc Gene:HS04407, ModBase:Q96GX5, NCBI Gene:84930, OMIM:188000, OMIM:608221, RefSeq DNA:NG_016987, RefSeq DNA:NT_008705, RefSeq Protein:NP_001165774, RefSeq Protein:NP_001165775, RefSeq Protein:NP_116233, RefSeq RNA:NM_001172303, RefSeq RNA:NM_001172304, RefSeq RNA:NM_032844, UniProtKB:Q96GX5 No chr10 27443753 27475848 27154468 27187953 +PA30646 4143 HGNC:6903 ENSG00000151224 methionine adenosyltransferase 1A MAT1A """S-adenosylmethionine synthase isoform type-1"", ""S-adenosylmethionine synthetase"", ""methionine adenosyltransferase I, alpha"", ""methionine adenosyltransferase I/III""" MAT, MAT-I/III, MATA1, SAMS, SAMS1 Yes No Comparative Toxicogenomics Database:4143, Ensembl:ENSG00000151224, GenAtlas:MAT1A, GeneCard:MAT1A, HGNC:HGNC:6903, HumanCyc Gene:HS07715, ModBase:Q00266, NCBI Gene:4143, OMIM:250850, OMIM:610550, RefSeq DNA:NG_008083, RefSeq DNA:NT_030059, RefSeq Protein:NP_000420, RefSeq RNA:NM_000429, UCSC Genome Browser:NM_000429, UniProtKB:Q00266 No chr10 82031576 82049721 80271820 80290003 +PA30647 4144 HGNC:6904 ENSG00000168906 methionine adenosyltransferase 2A MAT2A """S-adenosylmethionine synthase isoform type-2"", ""methionine adenosyltransferase II, alpha""" MAT-II, MATA2, MATII, SAMS2 Yes No Comparative Toxicogenomics Database:4144, Ensembl:ENSG00000168906, GenAtlas:MAT2A, GeneCard:MAT2A, HGNC:HGNC:6904, HumanCyc Gene:HS09847, ModBase:P31153, NCBI Gene:4144, OMIM:601468, RefSeq DNA:NT_022184, RefSeq Protein:NP_005902, RefSeq RNA:NM_005911, UCSC Genome Browser:NM_005911, UniProtKB:P31153 No chr2 85766101 85772403 85538978 85545280 +PA30648 27430 HGNC:6905 ENSG00000038274 methionine adenosyltransferase 2 non-catalytic beta subunit MAT2B """methionine adenosyltransferase 2B"", ""methionine adenosyltransferase II, beta"", ""short chain dehydrogenase/reductase family 23E, member 1""" MATIIbeta, SDR23E1 Yes No Ensembl:ENSG00000038274, GenAtlas:MAT2B, GeneCard:MAT2B, HGNC:HGNC:6905, HumanCyc Gene:HS00531, ModBase:Q9UJ54, NCBI Gene:27430, OMIM:605527, RefSeq DNA:NT_023133, RefSeq Protein:NP_037415, RefSeq Protein:NP_877725, RefSeq RNA:NM_013283, RefSeq RNA:NM_182796, UCSC Genome Browser:NM_013283, UniProtKB:Q9NZL9 No chr5 162930070 162946359 163503064 163519353 +PA164721818 653319 HGNC:34408 ENSG00000196123 microtubule associated tyrosine carboxypeptidase 1 MATCAP1 KIAA0895 like, KIAA0895-like, tubulin metallocarboxypeptidase 1 KIAA0895L, LOC653319, TMCP1 Yes No Ensembl:ENSG00000196123, GeneCard:KIAA0895L, HGNC:HGNC:34408, NCBI Gene:653319, RefSeq DNA:NT_010498, RefSeq Protein:NP_001035805, RefSeq RNA:NM_001040715, UniProtKB:Q68EN5 No chr16 67209505 67217883 67175602 67183980 +PA164721801 23366 HGNC:22206 ENSG00000164542 microtubule associated tyrosine carboxypeptidase 2 MATCAP2 tubulin metallocarboxypeptidase 2 KIAA0895, TMCP2 Yes No Ensembl:ENSG00000164542, GeneCard:KIAA0895, HGNC:HGNC:22206, NCBI Gene:23366, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001093895, RefSeq Protein:NP_001186635, RefSeq Protein:NP_001186636, RefSeq Protein:NP_001186637, RefSeq Protein:NP_056129, RefSeq RNA:NM_001100425, RefSeq RNA:NM_001199706, RefSeq RNA:NM_001199707, RefSeq RNA:NM_001199708, RefSeq RNA:NM_015314, UniProtKB:Q8NCT3 No chr7 36363759 36429734 36324150 36390125 +PA30649 4145 HGNC:6906 ENSG00000007264 megakaryocyte-associated tyrosine kinase MATK Csk-homologous kinase, Csk-type protein tyrosine kinase, HYL tyrosine kinase, hematopoietic consensus tyrosine-lacking kinase, hydroxyaryl-protein kinase, leukocyte carboxyl-terminal src kinase related, protein kinase HYL, tyrosine kinase MATK, tyrosine-protein kinase CTK, tyrosylprotein kinase CHK, CTK, DKFZp434N1212, HHYLTK, HYL, HYLTK, Lsk, MGC1708, MGC2101 Yes No Comparative Toxicogenomics Database:4145, Ensembl:ENSG00000007264, GenAtlas:MATK, GeneCard:MATK, HGNC:HGNC:6906, HumanCyc Gene:HS00209, ModBase:P42679, NCBI Gene:4145, OMIM:600038, RefSeq DNA:NT_011255, RefSeq Protein:NP_002369, RefSeq Protein:NP_647611, RefSeq Protein:NP_647612, RefSeq RNA:NM_002378, RefSeq RNA:NM_139354, RefSeq RNA:NM_139355, UCSC Genome Browser:NM_002378, UniProtKB:B3KNZ9, UniProtKB:P42679, UniProtKB:Q9NST8 No chr19 3777967 3801810 3777969 3801812 +PA30650 4146 HGNC:6907 ENSG00000162510 matrilin 1 MATN1 matrilin 1, cartilage matrix protein CMP, CRTM Yes No Ensembl:ENSG00000162510, GenAtlas:MATN1, GeneCard:MATN1, HGNC:HGNC:6907, HumanCyc Gene:HS08685, ModBase:P21941, NCBI Gene:4146, OMIM:115437, RefSeq DNA:NT_032977, RefSeq Protein:NP_002370, RefSeq RNA:NM_002379, UCSC Genome Browser:NM_002379, UniProtKB:P21941 No chr1 31184124 31196432 30711277 30723585 +PA30651 4147 HGNC:6908 ENSG00000132561 matrilin 2 MATN2 Yes No Comparative Toxicogenomics Database:4147, Ensembl:ENSG00000132561, GenAtlas:MATN2, GeneCard:MATN2, HGNC:HGNC:6908, HumanCyc Gene:HS05656, ModBase:O00339, NCBI Gene:4147, OMIM:602108, RefSeq DNA:NT_008046, RefSeq Protein:NP_002371, RefSeq Protein:NP_085072, RefSeq RNA:NM_002380, RefSeq RNA:NM_030583, UCSC Genome Browser:NM_002380, UniProtKB:O00339, UniProtKB:Q8N2G3 No chr8 98881284 99048948 97869021 98036720 +PA30652 4148 HGNC:6909 ENSG00000132031 matrilin 3 MATN3 EDM5, HOA Yes No Comparative Toxicogenomics Database:4148, Ensembl:ENSG00000132031, GenAtlas:MATN3, GeneCard:MATN3, HGNC:HGNC:6909, HumanCyc Gene:HS05593, ModBase:O15232, NCBI Gene:4148, OMIM:140600, OMIM:602109, OMIM:607078, OMIM:607850, OMIM:608728, RefSeq DNA:NG_008087, RefSeq DNA:NT_015926, RefSeq Protein:NP_002372, RefSeq RNA:NM_002381, UCSC Genome Browser:NM_002381, UniProtKB:O15232, UniProtKB:Q4ZG02 No chr2 20191813 20212455 19992052 20012694 +PA30653 8785 HGNC:6910 ENSG00000124159 matrilin 4 MATN4 Yes No Comparative Toxicogenomics Database:8785, Ensembl:ENSG00000124159, GenAtlas:MATN4, GeneCard:MATN4, HGNC:HGNC:6910, HumanCyc Gene:HS04723, ModBase:Q9H1F8, NCBI Gene:8785, OMIM:603897, RefSeq DNA:NT_011362, RefSeq Protein:NP_003824, RefSeq Protein:NP_085080, RefSeq Protein:NP_085095, RefSeq RNA:NM_003833, RefSeq RNA:NM_030590, RefSeq RNA:NM_030592, UCSC Genome Browser:NM_003833, UniProtKB:A2RRP8, UniProtKB:A5D8U1, UniProtKB:A6NNA4, UniProtKB:O95460 No chr20 43922086 43937206 45293446 45308566 +PA30655 9782 HGNC:6912 ENSG00000280987 matrin 3 MATR3 KIAA0723, MGC9105, MPD2, VCPDM Yes No Comparative Toxicogenomics Database:9782, Ensembl:ENSG00000280987, GenAtlas:MATR3, GeneCard:MATR3, HGNC:HGNC:6912, HumanCyc Gene:HS00369, ModBase:P43243, NCBI Gene:9782, OMIM:164015, OMIM:606070, RefSeq DNA:NG_012846, RefSeq DNA:NT_034772, RefSeq Protein:NP_001181883, RefSeq Protein:NP_001181884, RefSeq Protein:NP_001181885, RefSeq Protein:NP_061322, RefSeq Protein:NP_954659, RefSeq RNA:NM_001194954, RefSeq RNA:NM_001194955, RefSeq RNA:NM_001194956, RefSeq RNA:NM_018834, RefSeq RNA:NM_199189, RefSeq RNA:NR_036535, UCSC Genome Browser:NM_018834, UniProtKB:P43243, UniProtKB:Q68D11 No chr5 138609441 138667366 139273752 139331677 +PA134991458 23383 HGNC:29140 ENSG00000129933 MAU2 sister chromatid cohesion factor MAU2 MAU2 chromatid cohesion factor homolog (C. elegans), sister chromatid cohesion 4 KIAA0892, MAU2L, MGC75361, SCC4, mau-2 Yes No Ensembl:ENSG00000129933, GeneCard:KIAA0892, HGNC:HGNC:29140, ModBase:Q9Y6X3, NCBI Gene:23383, RefSeq DNA:NT_011295, RefSeq Protein:NP_056144, RefSeq RNA:NM_015329, UniProtKB:Q9Y6X3 No chr19 19431496 19469563 19320686 19358754 +PA164722208 57506 HGNC:29233 ENSG00000088888 mitochondrial antiviral signaling protein MAVS CARD adaptor inducing IFN-beta, IFN-B promoter stimulator 1, virus-induced signaling adaptor Cardif, IPS-1, KIAA1271, VISA Yes No Ensembl:ENSG00000088888, GeneCard:MAVS, HGNC:HGNC:29233, NCBI Gene:57506, OMIM:609676, RefSeq DNA:NT_011387, RefSeq Protein:NP_001193420, RefSeq Protein:NP_065797, RefSeq RNA:NM_001206491, RefSeq RNA:NM_020746, RefSeq RNA:NR_037921, UniProtKB:Q7Z434 No chr20 3827446 3856770 3846799 3876123 +PA30656 4149 HGNC:6913 ENSG00000125952 MYC associated factor X MAX bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8 Yes No Comparative Toxicogenomics Database:4149, Ensembl:ENSG00000125952, GenAtlas:MAX, GeneCard:MAX, HGNC:HGNC:6913, HumanCyc Gene:HS04974, ModBase:P61244, NCBI Gene:4149, OMIM:154950, RefSeq DNA:NT_026437, RefSeq Protein:NP_002373, RefSeq Protein:NP_660087, RefSeq Protein:NP_660088, RefSeq Protein:NP_660089, RefSeq Protein:NP_660092, RefSeq Protein:NP_932061, RefSeq RNA:NM_002382, RefSeq RNA:NM_145112, RefSeq RNA:NM_145113, RefSeq RNA:NM_145114, RefSeq RNA:NM_145116, RefSeq RNA:NM_197957, UCSC Genome Browser:NM_002382, UniProtKB:A6NH73, UniProtKB:P61244, UniProtKB:Q14803, UniProtKB:Q8TAX8, UniProtKB:Q96CY8 No chr14 65472819 65569413 65006101 65102695 +PA30657 4150 HGNC:6914 ENSG00000103495 MYC associated zinc finger protein MAZ MYC-associated zinc finger protein (purine-binding transcription factor), purine-binding transcription factor Pur-1, ZF87, ZNF801, Zif87 Yes No Comparative Toxicogenomics Database:4150, Ensembl:ENSG00000103495, GenAtlas:MAZ, GeneCard:MAZ, HGNC:HGNC:6914, HumanCyc Gene:HS02511, ModBase:P56270, NCBI Gene:4150, OMIM:600999, RefSeq DNA:NT_010393, RefSeq Protein:NP_001036004, RefSeq Protein:NP_002374, RefSeq RNA:NM_001042539, RefSeq RNA:NM_002383, UCSC Genome Browser:NM_002383, UniProtKB:P56270, UniProtKB:Q8IUI2, UniProtKB:Q8NFN7 No chr16 29817417 29822504 29806096 29811183 +PA30658 4151 HGNC:6915 ENSG00000198125 myoglobin MB PVALB Yes No Comparative Toxicogenomics Database:4151, Ensembl:ENSG00000198125, GenAtlas:MB, GeneCard:MB, HGNC:HGNC:6915, ModBase:P02144, NCBI Gene:4151, OMIM:160000, RefSeq DNA:NG_007075, RefSeq DNA:NT_011520, RefSeq Protein:NP_005359, RefSeq Protein:NP_976311, RefSeq Protein:NP_976312, RefSeq RNA:NM_005368, RefSeq RNA:NM_203377, RefSeq RNA:NM_203378, UCSC Genome Browser:NM_005368, UniProtKB:P02144 No chr22 36002811 36019401 35606764 35623354 +PA143485335 151963 HGNC:30438 ENSG00000180611 Mab-21 domain containing 2 MB21D2 DANGER family member 2A C3orf59, D2A Yes No Ensembl:ENSG00000180611, GeneCard:C3orf59, HGNC:HGNC:30438, NCBI Gene:151963, RefSeq DNA:NT_005612, RefSeq Protein:NP_848591, RefSeq RNA:NM_178496, UniProtKB:Q8IYB1 No chr3 192514604 192635950 192796815 192918161 +PA30659 4152 HGNC:6916 ENSG00000141644 methyl-CpG binding domain protein 1 MBD1 protein containing MBD 1 CXXC3, PCM1 Yes No Comparative Toxicogenomics Database:4152, Ensembl:ENSG00000141644, GenAtlas:MBD1, GeneCard:MBD1, HGNC:HGNC:6916, HumanCyc Gene:HS06858, ModBase:Q9UNZ8, NCBI Gene:4152, OMIM:156535, RefSeq DNA:NT_010966, RefSeq Protein:NP_001191065, RefSeq Protein:NP_001191066, RefSeq Protein:NP_001191067, RefSeq Protein:NP_001191068, RefSeq Protein:NP_001191069, RefSeq Protein:NP_001191070, RefSeq Protein:NP_001191071, RefSeq Protein:NP_001191072, RefSeq Protein:NP_001191080, RefSeq Protein:NP_002375, RefSeq Protein:NP_056669, RefSeq Protein:NP_056670, RefSeq Protein:NP_056671, RefSeq Protein:NP_056723, RefSeq RNA:NM_001204136, RefSeq RNA:NM_001204137, RefSeq RNA:NM_001204138, RefSeq RNA:NM_001204139, RefSeq RNA:NM_001204140, RefSeq RNA:NM_001204141, RefSeq RNA:NM_001204142, RefSeq RNA:NM_001204143, RefSeq RNA:NM_001204151, RefSeq RNA:NM_002384, RefSeq RNA:NM_015844, RefSeq RNA:NM_015845, RefSeq RNA:NM_015846, RefSeq RNA:NM_015847, UCSC Genome Browser:NM_002384, UniProtKB:Q9UIS9 No chr18 47793252 47808144 50266882 50281774 +PA30660 8932 HGNC:6917 ENSG00000134046 methyl-CpG binding domain protein 2 MBD2 Yes No Comparative Toxicogenomics Database:8932, Ensembl:ENSG00000134046, GenAtlas:MBD2, GeneCard:MBD2, HGNC:HGNC:6917, HumanCyc Gene:HS05807, ModBase:Q9UBB5, NCBI Gene:8932, OMIM:603547, RefSeq DNA:NT_010966, RefSeq Protein:NP_003918, RefSeq Protein:NP_056647, RefSeq RNA:NM_003927, RefSeq RNA:NM_015832, UCSC Genome Browser:NM_003927, UniProtKB:Q9UBB5 No chr18 51677971 51751158 54151601 54224788 +PA30661 53615 HGNC:6918 ENSG00000071655 methyl-CpG binding domain protein 3 MBD3 Yes No Comparative Toxicogenomics Database:53615, Ensembl:ENSG00000071655, GenAtlas:MBD3, GeneCard:MBD3, HGNC:HGNC:6918, HumanCyc Gene:HS01038, ModBase:O95983, NCBI Gene:53615, OMIM:603573, RefSeq DNA:NT_011255, RefSeq Protein:NP_003917, RefSeq RNA:NM_003926, UCSC Genome Browser:NM_003926, UniProtKB:O95983 No chr19 1576670 1592760 1576671 1592761 +PA30662 85509 HGNC:15774 ENSG00000170948 methyl-CpG binding domain protein 3 like 1 MBD3L1 methyl-CpG binding domain protein 3-like 1 MBD3L Yes No Ensembl:ENSG00000170948, GeneCard:MBD3L1, HGNC:HGNC:15774, HumanCyc Gene:HS15937, ModBase:Q8WWY6, NCBI Gene:85509, OMIM:607963, RefSeq DNA:NT_011295, RefSeq Protein:NP_660209, RefSeq RNA:NM_145208, UCSC Genome Browser:NM_145208, UniProtKB:Q8WWY6 No chr19 8943074 8954016 8842593 8843340 +PA38567 125997 HGNC:18532 ENSG00000230522 methyl-CpG binding domain protein 3 like 2 MBD3L2 methyl-CpG binding domain protein 3-like 2 Yes No Comparative Toxicogenomics Database:125997, Ensembl:ENSG00000230522, GenAtlas:MBD3L2, GeneCard:MBD3L2, HGNC:HGNC:18532, NCBI Gene:125997, OMIM:607964, RefSeq DNA:NT_011255, RefSeq Protein:NP_653215, RefSeq RNA:NM_144614, UCSC Genome Browser:NM_144614, UniProtKB:Q8NHZ7 No chr19 7049351 7051746 7049340 7051735 +PA166181559 729458 HGNC:53435 ENSG00000196589 methyl-CpG binding domain protein 3 like 2B MBD3L2B Yes No Ensembl:ENSG00000196589, HGNC:HGNC:53435, NCBI Gene:729458 No 0 0 0 0 +PA166049025 653657 HGNC:37205 ENSG00000182315 methyl-CpG binding domain protein 3 like 3 MBD3L3 methyl-CpG binding domain protein 3-like 3 Yes No Ensembl:ENSG00000182315, HGNC:HGNC:37205, NCBI Gene:653657 No chr19 7056216 7058645 7056205 7058634 +PA166049026 653656 HGNC:37206 ENSG00000205718 methyl-CpG binding domain protein 3 like 4 MBD3L4 methyl-CpG binding domain protein 3-like 4 Yes No Ensembl:ENSG00000205718, HGNC:HGNC:37206, NCBI Gene:653656 No chr19 7037755 7040184 7037744 7040173 +PA166049024 284428 HGNC:37204 ENSG00000237247 methyl-CpG binding domain protein 3 like 5 MBD3L5 methyl-CpG binding domain protein 3-like 5 Yes No Ensembl:ENSG00000237247, HGNC:HGNC:37204, NCBI Gene:284428 No chr19 7030594 7033022 7030583 7033011 +PA30663 8930 HGNC:6919 ENSG00000129071 methyl-CpG binding domain 4, DNA glycosylase MBD4 methyl-CpG binding domain protein 4 MED1 Yes No Comparative Toxicogenomics Database:8930, Ensembl:ENSG00000129071, GenAtlas:MBD4, GeneCard:MBD4, HGNC:HGNC:6919, HumanCyc Gene:HS05241, ModBase:O95243, NCBI Gene:8930, OMIM:603574, RefSeq DNA:NT_005612, RefSeq Protein:NP_003916, RefSeq RNA:NM_003925, UCSC Genome Browser:NM_003925, UniProtKB:O95243 No chr3 129149787 129159022 129430944 129440179 +PA134924244 55777 HGNC:20444 ENSG00000204406 methyl-CpG binding domain protein 5 MBD5 FLJ11113, KIAA1461 Yes No Comparative Toxicogenomics Database:55777, Ensembl:ENSG00000204406, GeneCard:MBD5, HGNC:HGNC:20444, ModBase:Q9P267, NCBI Gene:55777, OMIM:156200, OMIM:611472, RefSeq DNA:NG_017003, RefSeq DNA:NT_022135, RefSeq Protein:NP_060798, RefSeq RNA:NM_018328, UniProtKB:Q9P267 No chr2 148778580 149271046 148021011 148516923 +PA134866196 114785 HGNC:20445 ENSG00000166987 methyl-CpG binding domain protein 6 MBD6 KIAA1887 Yes No Ensembl:ENSG00000166987, GeneCard:MBD6, HGNC:HGNC:20445, HumanCyc Gene:HS09497, ModBase:Q96DN6, NCBI Gene:114785, RefSeq DNA:NT_029419, RefSeq Protein:NP_443129, RefSeq RNA:NM_052897, UniProtKB:Q6P0P0, UniProtKB:Q96DN6 No chr12 57915463 57923931 57520710 57530148 +PA134929415 51562 HGNC:20427 ENSG00000151332 MAP3K12 binding inhibitory protein 1 MBIP Yes No Comparative Toxicogenomics Database:51562, Ensembl:ENSG00000151332, GeneCard:MBIP, HGNC:HGNC:20427, HumanCyc Gene:HS07725, NCBI Gene:51562, OMIM:609431, RefSeq DNA:NT_026437, RefSeq Protein:NP_001138363, RefSeq Protein:NP_057670, RefSeq RNA:NM_001144891, RefSeq RNA:NM_016586, UniProtKB:B2RCV0, UniProtKB:Q9NS73 No chr14 36767764 36789882 36298558 36320676 +PA30664 8512 HGNC:6921 ENSG00000242600 mannose-binding lectin (protein A) 1, pseudogene MBL1P COLEC3P Yes No Ensembl:ENSG00000242600, GenAtlas:MBL1P1, GeneCard:MBL1P, HGNC:HGNC:6921, NCBI Gene:8512, RefSeq DNA:NT_030059, RefSeq RNA:NR_002724 No chr10 81679934 81682875 79920178 79923119 +PA30665 4153 HGNC:6922 ENSG00000165471 mannose binding lectin 2 MBL2 """collectin 1"", ""mannose-binding lectin (protein C) 2, soluble"", ""mannose-binding protein""" COLEC1, MBL, MBP, MBP-C, MBP1 Yes No Comparative Toxicogenomics Database:4153, Ensembl:ENSG00000165471, GenAtlas:MBL2, GeneCard:MBL2, HGNC:HGNC:6922, HumanCyc Gene:HS09235, ModBase:P11226, NCBI Gene:4153, OMIM:154545, RefSeq DNA:NG_008196, RefSeq DNA:NT_030059, RefSeq Protein:NP_000233, RefSeq RNA:NM_000242, UCSC Genome Browser:NM_000242, UniProtKB:P11226, UniProtKB:Q5SQS3 No chr10 54525140 54532578 52764977 52772845 +PA26739 50639 HGNC:2221 ENSG00000219430 mannose-binding lectin family member 3, pseudogene MBL3P MBL Yes No Ensembl:ENSG00000219430, GenAtlas:COLEC2, GeneCard:COLEC2, GeneCard:MBL3P, HGNC:HGNC:2221, NCBI Gene:50639 No chr10 81342054 81344633 79582298 79584877 +PA164722227 255374 HGNC:22180 ENSG00000214309 metallo-beta-lactamase domain containing 1 MBLAC1 MGC49416 Yes No Ensembl:ENSG00000214309, GeneCard:MBLAC1, HGNC:HGNC:22180, NCBI Gene:255374, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_981942, RefSeq RNA:NM_203397, UniProtKB:A4D2B0 No chr7 99724317 99726121 100126694 100128498 +PA164722236 153364 HGNC:33711 ENSG00000176055 metallo-beta-lactamase domain containing 2 MBLAC2 DKFZp686P15118, MGC46734 Yes No Ensembl:ENSG00000176055, GeneCard:MBLAC2, HGNC:HGNC:33711, NCBI Gene:153364, RefSeq DNA:NT_006713, RefSeq Protein:NP_981951, RefSeq RNA:NM_203406, UniProtKB:B3KY36, UniProtKB:Q68D91 No chr5 89754020 89770585 90458203 90474768 +PA30666 4154 HGNC:6923 ENSG00000152601 muscleblind like splicing regulator 1 MBNL1 muscleblind-like splicing regulator 1 EXP, EXP35, EXP40, EXP42, KIAA0428, MBNL Yes No Comparative Toxicogenomics Database:4154, Ensembl:ENSG00000152601, GeneCard:MBNL1, HGNC:HGNC:6923, HumanCyc Gene:HS07839, ModBase:Q9NR56, NCBI Gene:4154, OMIM:606516, RefSeq DNA:NT_005612, RefSeq Protein:NP_066368, RefSeq Protein:NP_997175, RefSeq Protein:NP_997176, RefSeq Protein:NP_997177, RefSeq Protein:NP_997178, RefSeq Protein:NP_997179, RefSeq Protein:NP_997180, RefSeq RNA:NM_021038, RefSeq RNA:NM_207292, RefSeq RNA:NM_207293, RefSeq RNA:NM_207294, RefSeq RNA:NM_207295, RefSeq RNA:NM_207296, RefSeq RNA:NM_207297, UCSC Genome Browser:NM_021038, UniProtKB:Q86UV8, UniProtKB:Q86UV9, UniProtKB:Q96P92, UniProtKB:Q96RE3, UniProtKB:Q9NR56 No chr3 151962120 152183569 152243656 152465780 +PA134901420 10150 HGNC:16746 ENSG00000139793 muscleblind like splicing regulator 2 MBNL2 muscleblind-like splicing regulator 2 MBLL, MBLL39 Yes No Comparative Toxicogenomics Database:10150, Ensembl:ENSG00000139793, GeneCard:MBNL2, HGNC:HGNC:16746, HumanCyc Gene:HS06657, NCBI Gene:10150, OMIM:607327, RefSeq DNA:NT_009952, RefSeq Protein:NP_659002, RefSeq Protein:NP_997187, RefSeq RNA:NM_144778, RefSeq RNA:NM_207304, UniProtKB:A2A3S3, UniProtKB:Q5VZF2 No chr13 97874549 98046374 97141780 97394120 +PA134992936 55796 HGNC:20564 ENSG00000076770 muscleblind like splicing regulator 3 MBNL3 muscleblind-like splicing regulator 3 CHCR, FLJ11316, MBLX39, MBXL Yes No Ensembl:ENSG00000076770, GeneCard:MBNL3, HGNC:HGNC:20564, HumanCyc Gene:HS01219, ModBase:Q9UF37, NCBI Gene:55796, OMIM:300413, RefSeq DNA:NG_016324, RefSeq DNA:NT_011786, RefSeq Protein:NP_001164172, RefSeq Protein:NP_001164173, RefSeq Protein:NP_001164174, RefSeq Protein:NP_001164175, RefSeq Protein:NP_060858, RefSeq Protein:NP_597846, RefSeq RNA:NM_001170701, RefSeq RNA:NM_001170702, RefSeq RNA:NM_001170703, RefSeq RNA:NM_001170704, RefSeq RNA:NM_018388, RefSeq RNA:NM_133486, UniProtKB:Q8IUR4, UniProtKB:Q9NUK0 No chrX 131503342 131624063 132369314 132490030 +PA134979205 154141 HGNC:21579 ENSG00000172197 membrane bound O-acyltransferase domain containing 1 MBOAT1 lysophosphatidylethanolamine acyltransferase 1, lysophospholipid acyltransferase 1, lysophospholipid acyltransferase 14 LPEAT1, LPLAT14, MGC44669, OACT1, dJ434O11.1 Yes Yes Ensembl:ENSG00000172197, GeneCard:MBOAT1, HGNC:HGNC:21579, ModBase:Q6ZNC8, NCBI Gene:154141, OMIM:611732, RefSeq DNA:NT_007592, RefSeq Protein:NP_001073949, RefSeq RNA:NM_001080480, UniProtKB:Q6ZNC8 No chr6 20099915 20212695 20099684 20212464 +PA134987740 129642 HGNC:25193 ENSG00000143797 membrane bound O-acyltransferase domain containing 2 MBOAT2 Lysophospholipid acyltransferase 2, lysophospholipid acyltransferase 13 FLJ14415, FLJ90298, LPLAT13, OACT2 Yes No Comparative Toxicogenomics Database:129642, Ensembl:ENSG00000143797, GeneCard:MBOAT2, HGNC:HGNC:25193, HumanCyc Gene:HS13986, ModBase:Q6ZWT7, NCBI Gene:129642, OMIM:611949, RefSeq DNA:NT_005334, RefSeq Protein:NP_620154, RefSeq RNA:NM_138799, UniProtKB:Q6ZWT7 No chr2 8996701 9143876 8852690 9003750 +PA142671233 619373 HGNC:32311 ENSG00000177669 membrane bound O-acyltransferase domain containing 4 MBOAT4 ghrelin O-acyltransferase FKSG89, GOAT, OACT4 Yes No Ensembl:ENSG00000177669, GeneCard:MBOAT4, HGNC:HGNC:32311, NCBI Gene:619373, OMIM:611940, RefSeq DNA:NT_167187, RefSeq Protein:NP_001094386, RefSeq RNA:NM_001100916, UniProtKB:Q96T53 No chr8 29989187 30002200 30131454 30148768 +PA162395057 79143 HGNC:15505 ENSG00000125505 membrane bound O-acyltransferase domain containing 7 MBOAT7 lysophosphatidylinositol acyltransferase, lysophosphatidylinositol acyltransferase 1, lysophospholipid acyltransferase 11, lysophospholipid acyltransferase 7 BB1, LENG4, LPIAT, LPIAT1, LPLAT, LPLAT11, hMBOA-7 Yes Yes Ensembl:ENSG00000125505, GeneCard:MBOAT7, HGNC:HGNC:15505, HumanCyc Gene:HS04897, NCBI Gene:79143, OMIM:606048, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139528, RefSeq Protein:NP_001139554, RefSeq Protein:NP_001139555, RefSeq Protein:NP_077274, RefSeq RNA:NM_001146056, RefSeq RNA:NM_001146082, RefSeq RNA:NM_001146083, RefSeq RNA:NM_024298, UniProtKB:Q96N66 No chr19 54677106 54693733 54173412 54190050 +PA30667 4155 HGNC:6925 ENSG00000197971 myelin basic protein MBP Yes No Comparative Toxicogenomics Database:4155, Ensembl:ENSG00000197971, GenAtlas:MBP, GeneCard:MBP, HGNC:HGNC:6925, ModBase:Q59GX3, NCBI Gene:4155, OMIM:159430, RefSeq DNA:NT_025028, RefSeq Protein:NP_001020252, RefSeq Protein:NP_001020261, RefSeq Protein:NP_001020263, RefSeq Protein:NP_001020271, RefSeq Protein:NP_001020272, RefSeq Protein:NP_002376, RefSeq RNA:NM_001025081, RefSeq RNA:NM_001025090, RefSeq RNA:NM_001025092, RefSeq RNA:NM_001025100, RefSeq RNA:NM_001025101, RefSeq RNA:NM_002385, UCSC Genome Browser:NM_002385, UniProtKB:P02686 No chr18 74690789 74844774 76978833 77133708 +PA134938339 54799 HGNC:19866 ENSG00000011258 mbt domain containing 1 MBTD1 FLJ20055, SA49P01 Yes No Comparative Toxicogenomics Database:54799, Ensembl:ENSG00000011258, GeneCard:MBTD1, HGNC:HGNC:19866, HumanCyc Gene:HS12040, NCBI Gene:54799, RefSeq DNA:NT_010783, RefSeq Protein:NP_060113, RefSeq RNA:NM_017643, UniProtKB:Q05BQ5 No chr17 49254786 49337788 51177419 51260511 +PA30671 8720 HGNC:15456 ENSG00000140943 membrane bound transcription factor peptidase, site 1 MBTPS1 """membrane-bound transcription factor peptidase, site 1"", ""site-1 protease"", ""subtilisin kexin isozyme 1""" KIAA0091, PCSK8, S1P, SKI-1 Yes No Comparative Toxicogenomics Database:8720, Ensembl:ENSG00000140943, GenAtlas:MBTPS1, GeneCard:MBTPS1, HGNC:HGNC:15456, HumanCyc Gene:HS06777, ModBase:Q14703, NCBI Gene:8720, OMIM:603355, RefSeq DNA:NT_010498, RefSeq Protein:NP_003782, RefSeq RNA:NM_003791, UCSC Genome Browser:NM_003791, UniProtKB:Q14703 No chr16 84087368 84150517 84053761 84116943 +PA30672 51360 HGNC:15455 ENSG00000012174 membrane bound transcription factor peptidase, site 2 MBTPS2 """membrane-bound transcription factor peptidase, site 2"", ""site-2 protease"", ""sterol regulatory element-binding proteins intramembrane protease""" KFSD, S2P Yes No Comparative Toxicogenomics Database:51360, Ensembl:ENSG00000012174, GenAtlas:MBTPS2, GeneCard:MBTPS2, HGNC:HGNC:15455, HumanCyc Gene:HS00330, ModBase:O43462, NCBI Gene:51360, OMIM:300294, OMIM:308205, RefSeq DNA:NG_012797, RefSeq DNA:NT_167197, RefSeq Protein:NP_056968, RefSeq RNA:NM_015884, UCSC Genome Browser:NM_015884, UniProtKB:O43462 No chrX 21857656 21916427 21839538 21885423 +PA30673 4157 HGNC:6929 ENSG00000258839 melanocortin 1 receptor MC1R alpha melanocyte stimulating hormone receptor, melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) MSH-R Yes Yes Comparative Toxicogenomics Database:4157, Ensembl:ENSG00000258839, GenAtlas:MC1R, GeneCard:MC1R, HGNC:HGNC:6929, IUPHAR Receptor:282, ModBase:Q9UN60, NCBI Gene:4157, OMIM:155555, OMIM:155600, OMIM:203200, OMIM:226300, OMIM:266300, OMIM:613098, OMIM:613099, RefSeq DNA:NG_012026, RefSeq DNA:NT_010542, RefSeq Protein:NP_002377, RefSeq RNA:NM_002386, UCSC Genome Browser:NM_002386, UniProtKB:Q01726, UniProtKB:Q1JUL4 No chr16 89984287 89987385 89917879 89920977 +PA30674 4158 HGNC:6930 ENSG00000185231 melanocortin 2 receptor MC2R adrenocorticotropic hormone receptor, melanocortin 2 receptor (adrenocorticotropic hormone) ACTHR Yes No Comparative Toxicogenomics Database:4158, Ensembl:ENSG00000185231, GenAtlas:MC2R, GeneCard:MC2R, HGNC:HGNC:6930, IUPHAR Receptor:283, ModBase:Q01718, NCBI Gene:4158, OMIM:202200, OMIM:607397, RefSeq DNA:NG_011819, RefSeq DNA:NT_010859, RefSeq Protein:NP_000520, RefSeq RNA:NM_000529, UCSC Genome Browser:NM_000529, UniProtKB:A8K016, UniProtKB:Q01718 No chr18 13882043 13915535 13882042 13915707 +PA30675 4159 HGNC:6931 ENSG00000124089 melanocortin 3 receptor MC3R MC3 Yes No Comparative Toxicogenomics Database:4159, Ensembl:ENSG00000124089, GenAtlas:MC3R, GeneCard:MC3R, HGNC:HGNC:6931, HumanCyc Gene:HS04709, IUPHAR Receptor:284, ModBase:P41968, NCBI Gene:4159, OMIM:155540, OMIM:601665, OMIM:602025, OMIM:607948, RefSeq DNA:NG_012200, RefSeq DNA:NT_011362, RefSeq Protein:NP_063941, RefSeq RNA:NM_019888, UCSC Genome Browser:NM_019888, UniProtKB:P41968 No chr20 54823788 54824871 56248732 56249815 +PA30676 4160 HGNC:6932 ENSG00000166603 melanocortin 4 receptor MC4R Yes Yes Comparative Toxicogenomics Database:4160, Ensembl:ENSG00000166603, GenAtlas:MC4R, GeneCard:MC4R, HGNC:HGNC:6932, HumanCyc Gene:HS09427, IUPHAR Receptor:285, ModBase:P32245, NCBI Gene:4160, OMIM:155541, OMIM:601665, RefSeq DNA:NG_016441, RefSeq DNA:NT_025028, RefSeq Protein:NP_005903, RefSeq RNA:NM_005912, UCSC Genome Browser:NM_005912, UniProtKB:P32245 No chr18 58038564 58040001 60371331 60372768 +PA30677 4161 HGNC:6933 ENSG00000176136 melanocortin 5 receptor MC5R Yes No Comparative Toxicogenomics Database:4161, Ensembl:ENSG00000176136, GenAtlas:MC5R, GeneCard:MC5R, HGNC:HGNC:6933, HumanCyc Gene:HS11005, IUPHAR Receptor:286, ModBase:P33032, NCBI Gene:4161, OMIM:600042, RefSeq DNA:NT_010859, RefSeq Protein:NP_005904, RefSeq RNA:NM_005913, UCSC Genome Browser:NM_005913, UniProtKB:P33032 No chr18 13825543 13826861 13825544 13826862 +PA30678 4162 HGNC:6934 ENSG00000076706 melanoma cell adhesion molecule MCAM Gicerin CD146, HEMCAM, METCAM, MUC18, MelCAM Yes No Comparative Toxicogenomics Database:4162, Ensembl:ENSG00000076706, GenAtlas:MCAM, GeneCard:MCAM, HGNC:HGNC:6934, HumanCyc Gene:HS01217, ModBase:P43121, NCBI Gene:4162, OMIM:155735, RefSeq DNA:NT_033899, RefSeq Protein:NP_006491, RefSeq RNA:NM_006500, UCSC Genome Browser:NM_006500, UniProtKB:P43121 No chr11 119179234 119189087 119308524 119317132 +PA162395058 27349 HGNC:29622 ENSG00000100294 malonyl-CoA-acyl carrier protein transacylase MCAT [acyl-carrier-protein] S-malonyltransferase, malonyl CoA:ACP acyltransferase (mitochondrial) FASN2C, MCT, MCT1, MT, NET62, fabD Yes No Ensembl:ENSG00000100294, GeneCard:MCAT, HGNC:HGNC:29622, HumanCyc Gene:HS02028, ModBase:Q8IVS2, NCBI Gene:27349, RefSeq DNA:NT_011520, RefSeq Protein:NP_055322, RefSeq Protein:NP_775738, RefSeq RNA:NM_014507, RefSeq RNA:NM_173467, UniProtKB:B0QY72, UniProtKB:Q8IVS2 No chr22 43528212 43539403 43132206 43143397 +PA30679 4163 HGNC:6935 ENSG00000171444 MCC regulator of WNT signaling pathway MCC """MCC, WNT signaling pathway regulator"", ""mutated in colorectal cancers""" Yes No Comparative Toxicogenomics Database:4163, Ensembl:ENSG00000171444, GenAtlas:MCC, GeneCard:MCC, HGNC:HGNC:6935, HumanCyc Gene:HS10306, ModBase:P23508, NCBI Gene:4163, OMIM:159350, RefSeq DNA:NG_012265, RefSeq DNA:NT_034772, RefSeq Protein:NP_001078846, RefSeq Protein:NP_002378, RefSeq RNA:NM_001085377, RefSeq RNA:NM_002387, UCSC Genome Browser:NM_002387, UniProtKB:P23508 No chr5 112357796 112824527 113022099 113488830 +PA30680 56922 HGNC:6936 ENSG00000078070 methylcrotonyl-CoA carboxylase subunit 1 MCCC1 3-methylcrotonyl-CoA carboxylase biotin containing subunit, methylcrotonoyl-CoA carboxylase 1, methylcrotonoyl-CoA carboxylase 1 (alpha), methylcrotonoyl-CoA carboxylase alpha MCCA, MCCCα, MCCCα Yes No Comparative Toxicogenomics Database:56922, Ensembl:ENSG00000078070, GenAtlas:MCCC1, GeneCard:MCCC1, HGNC:HGNC:6936, HumanCyc Gene:HS01269, ModBase:Q96RQ3, NCBI Gene:56922, OMIM:210200, OMIM:609010, RefSeq DNA:NG_008100, RefSeq DNA:NT_005612, RefSeq Protein:NP_064551, RefSeq RNA:NM_020166, UCSC Genome Browser:NM_020166, UniProtKB:Q96RQ3 No chr3 182733006 182817373 183015218 183099587 +PA30681 64087 HGNC:6937 ENSG00000131844 methylcrotonyl-CoA carboxylase subunit 2 MCCC2 3-methylcrotonyl-CoA carboxylase non-biotin containing subunit, methylcrotonoyl-CoA carboxylase 2, methylcrotonoyl-CoA carboxylase 2 (beta), methylcrotonoyl-CoA carboxylase beta MCCB, MCCCβ, MCCCβ Yes No Comparative Toxicogenomics Database:64087, Ensembl:ENSG00000131844, GenAtlas:MCCC2, GeneCard:MCCC2, HGNC:HGNC:6937, HumanCyc Gene:HS05575, ModBase:Q9HCC0, NCBI Gene:64087, OMIM:210210, OMIM:609014, RefSeq DNA:NG_008882, RefSeq DNA:NT_006713, RefSeq Protein:NP_071415, RefSeq RNA:NM_022132, UCSC Genome Browser:NM_022132, UniProtKB:Q9HCC0 No chr5 70883115 70954533 71587288 71658706 +PA134913652 401250 HGNC:20668 ENSG00000204511 mitochondrial coiled-coil domain 1 MCCD1 Yes No Ensembl:ENSG00000204511, GeneCard:MCCD1, HGNC:HGNC:20668, NCBI Gene:401250, OMIM:609624, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001011700, RefSeq RNA:NM_001011700, UniProtKB:P59942 No chr6 31496739 31498008 31528962 31530231 +PA30683 84693 HGNC:16732 ENSG00000124370 methylmalonyl-CoA epimerase MCEE glyoxalase domain containing 2, methylmalonyl CoA epimerase, methylmalonyl CoA isomerase GLOD2, MCE, MMCE Yes No Comparative Toxicogenomics Database:84693, Ensembl:ENSG00000124370, GenAtlas:MCEE, GeneCard:MCEE, HGNC:HGNC:16732, HumanCyc Gene:HS13124, ModBase:Q96PE7, NCBI Gene:84693, OMIM:251120, OMIM:608419, RefSeq DNA:NG_008977, RefSeq DNA:NT_022184, RefSeq Protein:NP_115990, RefSeq RNA:NM_032601, UCSC Genome Browser:NM_032601, UniProtKB:Q96PE7 No chr2 71336806 71357394 71109676 71130288 +PA162378700 199675 HGNC:27291 ENSG00000183019 mast cell expressed membrane protein 1 MCEMP1 chromosome 19 open reading frame 59, mast cell-expressed membrane protein 1 C19orf59, MCEMP1, MGC132456 Yes No Ensembl:ENSG00000183019, GeneCard:C19orf59, HGNC:HGNC:27291, NCBI Gene:199675, OMIM:609565, RefSeq DNA:NT_077812, RefSeq Protein:NP_777578, RefSeq RNA:NM_174918, UniProtKB:Q8IX19 No chr19 7741943 7744719 7677057 7679833 +PA30684 4168 HGNC:6940 ENSG00000101977 MCF.2 cell line derived transforming sequence MCF2 Oncogene MCF2 (oncogene DBL) ARHGEF21, DBL Yes No Comparative Toxicogenomics Database:4168, Ensembl:ENSG00000101977, GenAtlas:MCF2, GeneCard:MCF2, HGNC:HGNC:6940, HumanCyc Gene:HS02328, ModBase:P10911, NCBI Gene:4168, OMIM:311030, RefSeq DNA:NG_016439, RefSeq DNA:NT_011786, RefSeq Protein:NP_001093325, RefSeq Protein:NP_001165347, RefSeq Protein:NP_001165348, RefSeq Protein:NP_001165349, RefSeq Protein:NP_001165350, RefSeq Protein:NP_005360, RefSeq RNA:NM_001099855, RefSeq RNA:NM_001171876, RefSeq RNA:NM_001171877, RefSeq RNA:NM_001171878, RefSeq RNA:NM_001171879, RefSeq RNA:NM_005369, UCSC Genome Browser:NM_005369, UniProtKB:B2R9S6, UniProtKB:B7ZAV1, UniProtKB:P10911 No chrX 138663930 138790381 139581768 139708279 +PA30685 23263 HGNC:14576 ENSG00000126217 MCF.2 cell line derived transforming sequence like MCF2L MCF.2 cell line derived transforming sequence-like ARHGEF14, DBS, KIAA0362, OST Yes No Comparative Toxicogenomics Database:23263, Ensembl:ENSG00000126217, GenAtlas:MCF2L, GeneCard:MCF2L, HGNC:HGNC:14576, HumanCyc Gene:HS04999, ModBase:Q765G8, NCBI Gene:23263, OMIM:609499, RefSeq DNA:NT_027140, RefSeq Protein:NP_001106203, RefSeq Protein:NP_079255, RefSeq RNA:NM_001112732, RefSeq RNA:NM_024979, UCSC Genome Browser:NM_024979, UniProtKB:O15068, UniProtKB:Q3B839 No chr13 113548692 113754053 112894378 113099739 +PA134863801 23101 HGNC:30319 ENSG00000053524 MCF.2 cell line derived transforming sequence-like 2 MCF2L2 ARHGEF22, KIAA0861 Yes No Ensembl:ENSG00000053524, GeneCard:MCF2L2, HGNC:HGNC:30319, HumanCyc Gene:HS12132, ModBase:Q86YR7, NCBI Gene:23101, RefSeq DNA:NT_005612, RefSeq Protein:NP_055893, RefSeq RNA:NM_015078, UniProtKB:Q86YR7 No chr3 182895831 183146031 183176116 183428990 +PA134925788 90411 HGNC:18451 ENSG00000180398 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit MCFD2 multiple coagulation factor deficiency 2 F5F8D, LMAN1IP, SDNSF Yes No Comparative Toxicogenomics Database:90411, Ensembl:ENSG00000180398, GeneCard:MCFD2, HGNC:HGNC:18451, HumanCyc Gene:HS11488, ModBase:Q8NI22, NCBI Gene:90411, OMIM:227300, OMIM:607788, RefSeq DNA:NG_016428, RefSeq DNA:NT_022184, RefSeq Protein:NP_001164977, RefSeq Protein:NP_001164978, RefSeq Protein:NP_001164979, RefSeq Protein:NP_001164980, RefSeq Protein:NP_001164981, RefSeq Protein:NP_001164982, RefSeq Protein:NP_644808, RefSeq RNA:NM_001171506, RefSeq RNA:NM_001171507, RefSeq RNA:NM_001171508, RefSeq RNA:NM_001171509, RefSeq RNA:NM_001171510, RefSeq RNA:NM_001171511, RefSeq RNA:NM_139279, UniProtKB:Q68D61, UniProtKB:Q8NI22 No chr2 47129009 47168994 46901870 46941855 +PA134908461 645927 HGNC:21582 ENSG00000237154 multiple coagulation factor deficiency 2 pseudogene 1 MCFD2P1 NUCB2-L, dJ153G14.2 Yes No Ensembl:ENSG00000237154, GeneCard:MCFD2P1, HGNC:HGNC:21582, NCBI Gene:645927, RefSeq DNA:NG_009330, RefSeq DNA:NT_007592 No chr6 27375502 27377470 27407723 27409691 +PA28867 2847 HGNC:4479 ENSG00000128285 melanin concentrating hormone receptor 1 MCHR1 melanin-concentrating hormone receptor 1 GPR24, MCH1R, SLC1 Yes No Comparative Toxicogenomics Database:2847, Ensembl:ENSG00000128285, GenAtlas:MCHR1, GeneCard:MCHR1, HGNC:HGNC:4479, HumanCyc Gene:HS05175, IUPHAR Receptor:280, ModBase:Q99705, NCBI Gene:2847, OMIM:601751, RefSeq DNA:NT_011520, RefSeq Protein:NP_005288, RefSeq RNA:NM_005297, UCSC Genome Browser:NM_005297, UniProtKB:Q99705 No chr22 41075182 41078818 40679178 40682814 +PA134950856 84539 HGNC:20867 ENSG00000152034 melanin concentrating hormone receptor 2 MCHR2 melanin-concentrating hormone receptor 2 GPR145, MCH2, MCH2R, SLT Yes No Ensembl:ENSG00000152034, GeneCard:MCHR2, HGNC:HGNC:20867, HumanCyc Gene:HS07786, IUPHAR Receptor:281, ModBase:Q969V1, NCBI Gene:84539, OMIM:606111, RefSeq DNA:NT_025741, RefSeq Protein:NP_001035269, RefSeq Protein:NP_115892, RefSeq RNA:NM_001040179, RefSeq RNA:NM_032503, UniProtKB:Q969V1 No chr6 100367786 100442114 99919910 99994238 +PA166049068 345643 HGNC:40050 ENSG00000234602 multiciliate differentiation and DNA synthesis associated cell cycle protein MCIDAS multicilin IDAS, MCI, MCIN Yes No Ensembl:ENSG00000234602, HGNC:HGNC:40050, NCBI Gene:345643 No chr5 54515425 54523143 55219597 55227315 +PA30688 4170 HGNC:6943 ENSG00000143384 MCL1 apoptosis regulator, BCL2 family member MCL1 """MCL1, BCL2 family apoptosis regulator"", ""myeloid cell leukemia 1"", ""myeloid cell leukemia sequence 1 (BCL2-related)""" BCL2L3, Mcl-1 Yes No Comparative Toxicogenomics Database:4170, Ensembl:ENSG00000143384, GenAtlas:MCL1, GeneCard:MCL1, HGNC:HGNC:6943, HumanCyc Gene:HS07043, ModBase:Q9UNJ1, NCBI Gene:4170, OMIM:159552, RefSeq DNA:NT_004487, RefSeq Protein:NP_001184249, RefSeq Protein:NP_068779, RefSeq Protein:NP_877495, RefSeq RNA:NM_001197320, RefSeq RNA:NM_021960, RefSeq RNA:NM_182763, UCSC Genome Browser:NM_021960, UniProtKB:Q07820 No chr1 150547027 150552214 150574551 150579738 +PA30689 55388 HGNC:18043 ENSG00000065328 minichromosome maintenance 10 replication initiation factor MCM10 minichromosome maintenance complex component 10 CNA43, DNA43, PRO2249 Yes No Comparative Toxicogenomics Database:55388, Ensembl:ENSG00000065328, GenAtlas:MCM10, GeneCard:MCM10, HGNC:HGNC:18043, HumanCyc Gene:HS12170, ModBase:Q9P177, NCBI Gene:55388, OMIM:609357, RefSeq DNA:NT_008705, RefSeq Protein:NP_060988, RefSeq Protein:NP_877428, RefSeq RNA:NM_018518, RefSeq RNA:NM_182751, UCSC Genome Browser:NM_018518, UniProtKB:Q7L590 No chr10 13203554 13253104 13161554 13211110 +PA164742061 4171 HGNC:6944 ENSG00000073111 minichromosome maintenance complex component 2 MCM2 mitotin BM28, CCNL1, CDCL1, D3S3194, DFNA70, KIAA0030, cdc19 Yes No Ensembl:ENSG00000073111, GeneCard:MCM2, HGNC:HGNC:6944, HumanCyc Gene:HS01095, ModBase:P49736, NCBI Gene:4171, OMIM:116945, RefSeq DNA:NT_005612, RefSeq Protein:NP_004517, RefSeq RNA:NM_004526, UniProtKB:P49736 No chr3 127317200 127341279 127598357 127622436 +PA30691 4172 HGNC:6945 ENSG00000112118 minichromosome maintenance complex component 3 MCM3 Yes No Comparative Toxicogenomics Database:4172, Ensembl:ENSG00000112118, GenAtlas:MCM3, GeneCard:MCM3, HGNC:HGNC:6945, HumanCyc Gene:HS03520, ModBase:P25205, NCBI Gene:4172, OMIM:602693, RefSeq DNA:NT_007592, RefSeq Protein:NP_002379, RefSeq RNA:NM_002388, UCSC Genome Browser:NM_002388, UniProtKB:P25205 No chr6 52128812 52149679 52264014 52284881 +PA30692 8888 HGNC:6946 ENSG00000160294 minichromosome maintenance complex component 3 associated protein MCM3AP germinal-centre associated nuclear protein GANP, KIAA0572, Map80, SAC3 Yes Yes Comparative Toxicogenomics Database:8888, Ensembl:ENSG00000160294, GenAtlas:MCM3AP, GeneCard:MCM3AP, HGNC:HGNC:6946, HumanCyc Gene:HS08482, ModBase:O60318, NCBI Gene:8888, OMIM:603294, RefSeq DNA:NT_011515, RefSeq Protein:NP_003897, RefSeq RNA:NM_003906, UCSC Genome Browser:NM_003906, UniProtKB:O60318 No chr21 47655047 47706211 46235125 46286274 +PA30693 114044 HGNC:16417 ENSG00000215424 MCM3AP antisense RNA 1 MCM3AP-AS1 non-protein coding RNA 31 FLJ10508, NCRNA00031 Yes No Ensembl:ENSG00000215424, GenAtlas:MCM3APAS, GeneCard:MCM3APAS, HGNC:HGNC:16417, NCBI Gene:114044, RefSeq DNA:NT_011515, RefSeq RNA:NR_002776, UCSC Genome Browser:NM_018118 No chr21 47649158 47671604 46229231 46251701 +PA30694 4173 HGNC:6947 ENSG00000104738 minichromosome maintenance complex component 4 MCM4 DNA replication licensing factor MCM4 CDC21, CDC54, MGC33310, P1-Cdc21, hCdc21 Yes No Comparative Toxicogenomics Database:4173, Ensembl:ENSG00000104738, GenAtlas:MCM4, GeneCard:MCM4, HGNC:HGNC:6947, HumanCyc Gene:HS02611, ModBase:P33991, NCBI Gene:4173, OMIM:602638, RefSeq DNA:NT_008183, RefSeq Protein:NP_005905, RefSeq Protein:NP_877423, RefSeq RNA:NM_005914, RefSeq RNA:NM_182746, UCSC Genome Browser:NM_005914, UniProtKB:B3KMX0, UniProtKB:P33991 No chr8 48872763 48890720 47960203 47978160 +PA30695 4174 HGNC:6948 ENSG00000100297 minichromosome maintenance complex component 5 MCM5 CDC46 Yes No Comparative Toxicogenomics Database:4174, Ensembl:ENSG00000100297, GenAtlas:MCM5, GeneCard:MCM5, HGNC:HGNC:6948, HumanCyc Gene:HS02030, ModBase:P33992, NCBI Gene:4174, OMIM:602696, RefSeq DNA:NT_011520, RefSeq Protein:NP_006730, RefSeq RNA:NM_006739, UCSC Genome Browser:NM_006739, UniProtKB:B1AHB0, UniProtKB:P33992 No chr22 35796116 35820495 35400068 35454942 +PA30696 4175 HGNC:6949 ENSG00000076003 minichromosome maintenance complex component 6 MCM6 MIS5 homolog (S.pombe) Mis5 Yes No Comparative Toxicogenomics Database:4175, Ensembl:ENSG00000076003, GenAtlas:MCM6, GeneCard:MCM6, HGNC:HGNC:6949, HumanCyc Gene:HS01196, ModBase:Q14566, NCBI Gene:4175, OMIM:223100, OMIM:601806, OMIM:606255, RefSeq DNA:NG_008958, RefSeq DNA:NT_022135, RefSeq Protein:NP_005906, RefSeq RNA:NM_005915, UCSC Genome Browser:NM_005915, UniProtKB:Q14566 No chr2 136597196 136634047 135839626 135876477 +PA30697 4176 HGNC:6950 ENSG00000166508 minichromosome maintenance complex component 7 MCM7 protein phosphatase 1, regulatory subunit 104 CDC47, MCM2, PPP1R104 Yes No Comparative Toxicogenomics Database:4176, Ensembl:ENSG00000166508, GenAtlas:MCM7, GeneCard:MCM7, HGNC:HGNC:6950, HumanCyc Gene:HS09411, ModBase:P33993, NCBI Gene:4176, OMIM:600592, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_005907, RefSeq Protein:NP_877577, RefSeq RNA:NM_005916, RefSeq RNA:NM_182776, UCSC Genome Browser:NM_005916, UniProtKB:A4D2A2, UniProtKB:P33993 No chr7 99690351 99699563 100092728 100101940 +PA25696 84515 HGNC:16147 ENSG00000125885 minichromosome maintenance 8 homologous recombination repair factor MCM8 REC homolog (Drosophila), minichromosome maintenance complex component 8 C20orf154, MGC119522, MGC119523, MGC12866, MGC4816, REC, dJ967N21.5 Yes No Ensembl:ENSG00000125885, GeneCard:MCM8, HGNC:HGNC:16147, HumanCyc Gene:HS04966, ModBase:Q9UJA3, NCBI Gene:84515, OMIM:608187, RefSeq DNA:NT_011387, RefSeq Protein:NP_115874, RefSeq Protein:NP_877954, RefSeq RNA:NM_032485, RefSeq RNA:NM_182802, UCSC Genome Browser:NM_032485, UniProtKB:Q9UJA3 No chr20 5931298 5975852 5950652 6000941 +PA162395071 254394 HGNC:21484 ENSG00000111877 minichromosome maintenance 9 homologous recombination repair factor MCM9 minichromosome maintenance complex component 9 C6orf61, FLJ20170, MCMDC1, MGC35304, dJ329L24.3 Yes No Comparative Toxicogenomics Database:254394, Ensembl:ENSG00000111877, GeneCard:MCM9, HGNC:HGNC:21484, HumanCyc Gene:HS03478, NCBI Gene:254394, OMIM:610098, RefSeq DNA:NT_025741, RefSeq Protein:NP_060166, RefSeq Protein:NP_694987, RefSeq RNA:NM_017696, RefSeq RNA:NM_153255, UniProtKB:B3KV41, UniProtKB:Q9NXL9 No chr6 119134612 119256327 118813449 118935162 +PA134862625 79892 HGNC:25782 ENSG00000197771 minichromosome maintenance complex binding protein MCMBP C10orf119, FLJ13081, MCM-BP Yes No Ensembl:ENSG00000197771, GeneCard:C10orf119, HGNC:HGNC:25782, ModBase:Q9BTE3, NCBI Gene:79892, OMIM:610909, RefSeq DNA:NT_030059, RefSeq Protein:NP_079110, RefSeq RNA:NM_024834, UniProtKB:Q9BTE3 No chr10 121588916 121633140 119829404 119873628 +PA142672364 157777 HGNC:26368 ENSG00000178460 minichromosome maintenance domain containing 2 MCMDC2 C8orf45, FLJ25692 Yes No Ensembl:ENSG00000178460, GeneCard:C8orf45, HGNC:HGNC:26368, HumanCyc Gene:HS17064, ModBase:Q4G0Z9, NCBI Gene:157777, RefSeq DNA:NT_008183, RefSeq Protein:NP_001129632, RefSeq Protein:NP_001129633, RefSeq Protein:NP_775789, RefSeq RNA:NM_001136160, RefSeq RNA:NM_001136161, RefSeq RNA:NM_173518, UniProtKB:B4DXX4, UniProtKB:Q4G0Z9 No chr8 67782984 67834283 66870749 66926436 +PA30699 57192 HGNC:13356 ENSG00000090674 mucolipin TRP cation channel 1 MCOLN1 mucolipidosis type IV, mucolipin 1, transient receptor potential cation channel mucolipin subfamily member 1, transient receptor potential mucolipin 1 ML4, MLIV, MST080, MSTP080, TRPM-L1, TRPML1 Yes Yes Comparative Toxicogenomics Database:57192, Ensembl:ENSG00000090674, GenAtlas:MCOLN1, GeneCard:MCOLN1, HGNC:HGNC:13356, HumanCyc Gene:HS01703, IUPHAR Receptor:501, ModBase:Q9GZU1, NCBI Gene:57192, OMIM:252650, OMIM:605248, RefSeq DNA:NG_015806, RefSeq DNA:NT_077812, RefSeq Protein:NP_065394, RefSeq RNA:NM_020533, UCSC Genome Browser:NM_020533, UniProtKB:Q9GZU1 No chr19 7587496 7598895 7522610 7534009 +PA134913691 255231 HGNC:13357 ENSG00000153898 mucolipin TRP cation channel 2 MCOLN2 mucolipin 2 FLJ36691, TRP-ML2, TRPML2 Yes No Ensembl:ENSG00000153898, GeneCard:MCOLN2, HGNC:HGNC:13357, HumanCyc Gene:HS14492, IUPHAR Receptor:502, ModBase:Q8IZK6, NCBI Gene:255231, OMIM:607399, RefSeq DNA:NT_032977, RefSeq Protein:NP_694991, RefSeq RNA:NM_153259, UniProtKB:Q8IZK6 No chr1 85391266 85462796 84925583 84997122 +PA134947324 55283 HGNC:13358 ENSG00000055732 mucolipin TRP cation channel 3 MCOLN3 mucolipin 3 FLJ11006, TRP-ML3, TRPML3 Yes No Ensembl:ENSG00000055732, GeneCard:MCOLN3, HGNC:HGNC:13358, HumanCyc Gene:HS00686, IUPHAR Receptor:503, ModBase:Q8TDD5, NCBI Gene:55283, OMIM:607400, RefSeq DNA:NT_032977, RefSeq Protein:NP_060768, RefSeq RNA:NM_018298, UniProtKB:Q8TDD5 No chr1 85483765 85514585 85018082 85048902 +PA30701 79648 HGNC:6954 ENSG00000147316 microcephalin 1 MCPH1 BRCT-repeat inhibitor of TERT expression 1 BRIT1, FLJ12847 Yes Yes Comparative Toxicogenomics Database:79648, Ensembl:ENSG00000147316, GenAtlas:MCPH1, GeneCard:MCPH1, HGNC:HGNC:6954, HumanCyc Gene:HS07417, ModBase:Q8NEM0, NCBI Gene:79648, OMIM:251200, OMIM:606858, OMIM:607117, RefSeq DNA:NG_016619, RefSeq DNA:NT_023736, RefSeq Protein:NP_001166045, RefSeq Protein:NP_001166046, RefSeq Protein:NP_078872, RefSeq RNA:NM_001172574, RefSeq RNA:NM_001172575, RefSeq RNA:NM_024596, UniProtKB:B4DWW2, UniProtKB:Q8NEM0 No chr8 6264113 6501140 6406592 6648505 +PA165431912 348262 HGNC:28007 ENSG00000225663 MAPK regulated corepressor interacting protein 1 MCRIP1 """family with sequence similarity 195, member B"", ""granulin-2""" FAM195B, GRAN2, MCRIP Yes No Ensembl:ENSG00000225663, GeneCard:FAM195B, HGNC:HGNC:28007, NCBI Gene:348262, RefSeq DNA:NT_010663, RefSeq Protein:NP_001087236, RefSeq Protein:NP_997251, RefSeq RNA:NM_001093767, RefSeq RNA:NM_207368, UniProtKB:C9JLW8 No chr17 79780293 79791167 81822361 81833294 +PA25527 84331 HGNC:14142 ENSG00000172366 MAPK regulated corepressor interacting protein 2 MCRIP2 family with sequence similarity 195, member A C16orf14, FAM195A, MGC15416 Yes No Ensembl:ENSG00000172366, GenAtlas:C16orf14, GeneCard:C16orf14, GeneCard:FAM195A, HGNC:HGNC:14142, HumanCyc Gene:HS16077, NCBI Gene:84331, RefSeq DNA:NT_010393, RefSeq DNA:NT_037887, RefSeq Protein:NP_612427, RefSeq RNA:NM_138418, UniProtKB:Q9BUT9 No chr16 691849 698474 641849 648474 +PA30708 10445 HGNC:6960 ENSG00000187778 microspherule protein 1 MCRS1 INO80 complex subunit Q ICP22BP, INO80Q, MCRS2, MSP58, P78 Yes No Comparative Toxicogenomics Database:10445, Ensembl:ENSG00000187778, GenAtlas:MCRS1, GeneCard:MCRS1, HGNC:HGNC:6960, ModBase:Q96EZ8, NCBI Gene:10445, OMIM:609504, RefSeq DNA:NT_029419, RefSeq Protein:NP_001012300, RefSeq Protein:NP_006328, RefSeq RNA:NM_001012300, RefSeq RNA:NM_006337, UCSC Genome Browser:NM_006337, UniProtKB:Q96EZ8 No chr12 49952077 49961928 49558294 49572157 +PA142671472 79772 HGNC:26183 ENSG00000175471 multiple C2 and transmembrane domain containing 1 MCTP1 multiple C2 domains, transmembrane 1 FLJ22344 Yes No Ensembl:ENSG00000175471, GeneCard:MCTP1, HGNC:HGNC:26183, HumanCyc Gene:HS16466, ModBase:Q6DN14, NCBI Gene:79772, RefSeq DNA:NT_034772, RefSeq Protein:NP_001002796, RefSeq Protein:NP_078993, RefSeq RNA:NM_001002796, RefSeq RNA:NM_024717, UniProtKB:Q6DN14 No chr5 94038280 94620279 94703690 95284575 +PA142671473 55784 HGNC:25636 ENSG00000140563 multiple C2 and transmembrane domain containing 2 MCTP2 multiple C2 domains, transmembrane 2 FLJ11175, FLJ33303 Yes No Ensembl:ENSG00000140563, GeneCard:MCTP2, HGNC:HGNC:25636, HumanCyc Gene:HS06740, ModBase:Q6DN12, NCBI Gene:55784, RefSeq DNA:NT_010274, RefSeq Protein:NP_001153115, RefSeq Protein:NP_001153116, RefSeq Protein:NP_060819, RefSeq RNA:NM_001159643, RefSeq RNA:NM_001159644, RefSeq RNA:NM_018349, UniProtKB:Q6DN12 No chr15 94774772 95027181 94231184 94483952 +PA128394649 28985 HGNC:23357 ENSG00000232119 MCTS1 re-initiation and release factor MCTS1 """MCTS1, re-initiation and release factor"", ""malignant T cell amplified sequence 1"", ""multiple copies in T-cell lymphoma-1""" MCT-1 Yes No Comparative Toxicogenomics Database:28985, Ensembl:ENSG00000232119, GeneCard:MCTS1, HGNC:HGNC:23357, HumanCyc Gene:HS02316, ModBase:Q9ULC4, NCBI Gene:28985, OMIM:300587, RefSeq DNA:NT_011786, RefSeq Protein:NP_001131026, RefSeq Protein:NP_054779, RefSeq RNA:NM_001137554, RefSeq RNA:NM_014060, UCSC Genome Browser:NM_014060, UniProtKB:B4DGY2, UniProtKB:Q9ULC4 No chrX 119737744 119755014 120603889 120621159 +PA166351962 100101490 HGNC:49760 MCTS family member 2 MCTS2 MCTS2P, psiMCT-1 Yes No HGNC:HGNC:49760, NCBI Gene:100101490 No 0 0 0 0 +PA134888841 90550 HGNC:23526 ENSG00000156026 mitochondrial calcium uniporter MCU C10orf42, CCDC109A, FLJ46135 Yes No Comparative Toxicogenomics Database:90550, Ensembl:ENSG00000156026, GeneCard:CCDC109A, HGNC:HGNC:23526, HumanCyc Gene:HS14598, ModBase:Q8NE86, NCBI Gene:90550, RefSeq DNA:NT_030059, RefSeq Protein:NP_612366, RefSeq RNA:NM_138357, UniProtKB:Q8NE86 No chr10 74451889 74647452 72692131 72887694 +PA145008731 55013 HGNC:26076 ENSG00000005059 mitochondrial calcium uniporter dominant negative subunit beta MCUB coiled-coil domain containing 109B, mitochondrial calcium uniporter dominant negative beta subunit CCDC109B, FLJ20647 Yes No Ensembl:ENSG00000005059, GeneCard:CCDC109B, HGNC:HGNC:26076, HumanCyc Gene:HS12000, NCBI Gene:55013, RefSeq DNA:NT_016354, RefSeq Protein:NP_060388, RefSeq RNA:NM_017918, UniProtKB:Q9NWR8 No chr4 110481355 110608872 109560199 109688719 +PA162381944 63933 HGNC:21097 ENSG00000050393 mitochondrial calcium uniporter regulator 1 MCUR1 C6orf79, CCDC90A, FLJ20958 Yes No Ensembl:ENSG00000050393, GeneCard:CCDC90A, HGNC:HGNC:21097, HumanCyc Gene:HS12121, ModBase:Q96AQ8, NCBI Gene:63933, RefSeq DNA:NT_007592, RefSeq Protein:NP_001026883, RefSeq RNA:NM_001031713, UniProtKB:Q96AQ8 No chr6 13786781 13814794 13786549 13814994 +PA134942837 9656 HGNC:21163 ENSG00000137337, ENSG00000224587, ENSG00000225589, ENSG00000228575, ENSG00000234012, ENSG00000237095 mediator of DNA damage checkpoint 1 MDC1 mediator of DNA-damage checkpoint 1 Em:AB023051.5, KIAA0170, NFBD1 Yes No Ensembl:ENSG00000137337, Ensembl:ENSG00000224587, Ensembl:ENSG00000225589, Ensembl:ENSG00000228575, Ensembl:ENSG00000234012, Ensembl:ENSG00000237095, GeneCard:MDC1, HGNC:HGNC:21163, HumanCyc Gene:HS06322, ModBase:Q2TAZ4, NCBI Gene:9656, OMIM:607593, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_055456, RefSeq RNA:NM_014641, UniProtKB:A1Z5I9, UniProtKB:Q14676 No chr6 30667584 30685458 30699807 30717988 +PA30713 4188 HGNC:6967 ENSG00000112559 MyoD family inhibitor MDFI inhibitor of MyoD family a I-mfa Yes No Comparative Toxicogenomics Database:4188, Ensembl:ENSG00000112559, GenAtlas:MDFI, GeneCard:MDFI, HGNC:HGNC:6967, HumanCyc Gene:HS03587, ModBase:Q99750, NCBI Gene:4188, OMIM:604971, RefSeq DNA:NT_007592, RefSeq Protein:NP_005577, RefSeq RNA:NM_005586, UCSC Genome Browser:NM_005586, UniProtKB:Q99750 No chr6 41606194 41621984 41637020 41654246 +PA142671474 29969 HGNC:28870 ENSG00000135272 MyoD family inhibitor domain containing MDFIC HIC, MDFIC1 Yes No Comparative Toxicogenomics Database:29969, Ensembl:ENSG00000135272, GeneCard:MDFIC, HGNC:HGNC:28870, ModBase:Q9P1T7, NCBI Gene:29969, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001159817, RefSeq Protein:NP_001159818, RefSeq Protein:NP_951038, RefSeq RNA:NM_001166345, RefSeq RNA:NM_001166346, RefSeq RNA:NM_199072, UniProtKB:Q9P1T7 No chr7 114562169 114659971 114922154 115019916 +PA166181560 107986096 HGNC:53442 ENSG00000242120 MyoD family inhibitor domain containing 2 MDFIC2 Yes No Ensembl:ENSG00000242120, HGNC:HGNC:53442, NCBI Gene:107986096 No 0 0 0 0 +PA134864540 266727 HGNC:19267 ENSG00000112139 MAM domain containing glycosylphosphatidylinositol anchor 1 MDGA1 GPIM, MAMDC3 Yes No Comparative Toxicogenomics Database:266727, Ensembl:ENSG00000112139, GeneCard:MDGA1, HGNC:HGNC:19267, HumanCyc Gene:HS03521, ModBase:Q8NFP4, NCBI Gene:266727, OMIM:609626, RefSeq DNA:NT_007592, RefSeq Protein:NP_705691, RefSeq RNA:NM_153487, UniProtKB:Q8NFP4 No chr6 37600284 37665766 37632508 37697990 +PA162395090 161357 HGNC:19835 ENSG00000139915 MAM domain containing glycosylphosphatidylinositol anchor 2 MDGA2 MAMDC1 Yes Yes Ensembl:ENSG00000139915, GeneCard:MDGA2, HGNC:HGNC:19835, ModBase:Q7Z553, NCBI Gene:161357, OMIM:611128, RefSeq DNA:NT_026437, RefSeq Protein:NP_001106970, RefSeq Protein:NP_878250, RefSeq RNA:NM_001113498, RefSeq RNA:NM_182830, UniProtKB:A8MT01, UniProtKB:Q7Z553 No chr14 47308826 48144157 46836518 47675319 +PA30714 4190 HGNC:6970 ENSG00000014641 malate dehydrogenase 1 MDH1 malate dehydrogenase 1, NAD (soluble) Yes No Comparative Toxicogenomics Database:4190, Ensembl:ENSG00000014641, GenAtlas:MDH1, GeneCard:MDH1, HGNC:HGNC:6970, HumanCyc Gene:HS00361, ModBase:P40925, NCBI Gene:4190, OMIM:154200, RefSeq DNA:NT_022184, RefSeq Protein:NP_001186040, RefSeq Protein:NP_001186041, RefSeq Protein:NP_005908, RefSeq RNA:NM_001199111, RefSeq RNA:NM_001199112, RefSeq RNA:NM_005917, UCSC Genome Browser:NM_005917, UniProtKB:P40925 No chr2 63815743 63834331 63588609 63607197 +PA30715 130752 HGNC:17836 ENSG00000138400 malate dehydrogenase 1B MDH1B malate dehydrogenase 1B, NAD (soluble) FLJ25341, RP11-95H11 Yes No Comparative Toxicogenomics Database:130752, Ensembl:ENSG00000138400, GenAtlas:MDH1B, GeneCard:MDH1B, HGNC:HGNC:17836, ModBase:Q5I0G3, NCBI Gene:130752, RefSeq DNA:NT_005403, RefSeq Protein:NP_001034934, RefSeq RNA:NM_001039845, UniProtKB:Q5I0G3 No chr2 207602487 207630268 206737763 206765549 +PA30716 4191 HGNC:6971 ENSG00000146701 malate dehydrogenase 2 MDH2 malate dehydrogenase 2, NAD (mitochondrial) Yes No Comparative Toxicogenomics Database:4191, Ensembl:ENSG00000146701, GenAtlas:MDH2, GeneCard:MDH2, HGNC:HGNC:6971, HumanCyc Gene:HS07366, ModBase:P40926, NCBI Gene:4191, OMIM:154100, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_005909, RefSeq RNA:NM_005918, UCSC Genome Browser:NM_005918, UniProtKB:P40926 No chr7 75677182 75696826 76048019 76067508 +PA30717 4192 HGNC:6972 ENSG00000110492 midkine MDK midkine (neurite growth-promoting factor 2) FLJ27379, MK, NEGF2 Yes No Comparative Toxicogenomics Database:4192, Ensembl:ENSG00000110492, GenAtlas:MDK, GeneCard:MDK, HGNC:HGNC:6972, HumanCyc Gene:HS03316, NCBI Gene:4192, OMIM:162096, RefSeq DNA:NT_009237, RefSeq Protein:NP_001012333, RefSeq Protein:NP_001012334, RefSeq Protein:NP_002382, RefSeq RNA:NM_001012333, RefSeq RNA:NM_001012334, RefSeq RNA:NM_002391, UCSC Genome Browser:NM_002391, UniProtKB:P21741 No chr11 46402334 46405387 46380784 46383837 +PA134879752 56890 HGNC:29917 ENSG00000111554 Mdm1 nuclear protein MDM1 Mdm1 nuclear protein homolog (mouse) Yes No Comparative Toxicogenomics Database:56890, Ensembl:ENSG00000111554, GeneCard:MDM1, HGNC:HGNC:29917, HumanCyc Gene:HS12741, NCBI Gene:56890, RefSeq DNA:NT_029419, RefSeq Protein:NP_001191957, RefSeq Protein:NP_001191958, RefSeq Protein:NP_059136, RefSeq Protein:NP_064513, RefSeq RNA:NM_001205028, RefSeq RNA:NM_001205029, RefSeq RNA:NM_017440, RefSeq RNA:NM_020128, UniProtKB:B2RB22, UniProtKB:Q8TC05 No chr12 68688346 68726161 68294566 68332381 +PA30718 4193 HGNC:6973 ENSG00000135679 MDM2 proto-oncogene MDM2 """MDM2 oncogene, E3 ubiquitin protein ligase"", ""MDM2 proto-oncogene, E3 ubiquitin protein ligase""" HDM2, HDMX, MGC5370 Yes Yes Comparative Toxicogenomics Database:4193, Ensembl:ENSG00000135679, GenAtlas:MDM2, GeneCard:MDM2, HGNC:HGNC:6973, HumanCyc Gene:HS06048, ModBase:Q53XW0, NCBI Gene:4193, OMIM:164785, RefSeq DNA:NG_016708, RefSeq DNA:NT_029419, RefSeq Protein:NP_001138808, RefSeq Protein:NP_001138809, RefSeq Protein:NP_001138811, RefSeq Protein:NP_001138812, RefSeq Protein:NP_002383, RefSeq Protein:NP_006869, RefSeq Protein:NP_006870, RefSeq Protein:NP_006872, RefSeq Protein:NP_006873, RefSeq RNA:NM_001145336, RefSeq RNA:NM_001145337, RefSeq RNA:NM_001145339, RefSeq RNA:NM_001145340, RefSeq RNA:NM_002392, RefSeq RNA:NM_006878, RefSeq RNA:NM_006879, RefSeq RNA:NM_006881, RefSeq RNA:NM_006882, UCSC Genome Browser:NM_002392, UniProtKB:Q00987 No chr12 69201952 69239324 68808149 68845544 +PA30719 4194 HGNC:6974 ENSG00000198625 MDM4 regulator of p53 MDM4 """MDM4, p53 regulator"", ""Mdm4 p53 binding protein homolog (mouse)""" HDMX, MDMX Yes Yes Comparative Toxicogenomics Database:4194, Ensembl:ENSG00000198625, GenAtlas:MDM4, GeneCard:MDM4, HGNC:HGNC:6974, ModBase:O15151, NCBI Gene:4194, OMIM:602704, RefSeq DNA:NT_004487, RefSeq Protein:NP_001191100, RefSeq Protein:NP_001191101, RefSeq Protein:NP_002384, RefSeq RNA:NM_001204171, RefSeq RNA:NM_001204172, RefSeq RNA:NM_002393, RefSeq RNA:NR_024171, UCSC Genome Browser:NM_002393, UniProtKB:O15151 No chr1 204485507 204596131 204516379 204558120 +PA30720 23195 HGNC:18302 ENSG00000112159 midasin AAA ATPase 1 MDN1 MDN1, midasin homolog (yeast) KIAA0301, Rea1 Yes No Comparative Toxicogenomics Database:23195, Ensembl:ENSG00000112159, GenAtlas:MDN1, GeneCard:MDN1, HGNC:HGNC:18302, HumanCyc Gene:HS03525, ModBase:Q9NU22, NCBI Gene:23195, RefSeq DNA:NT_007299, RefSeq Protein:NP_055426, RefSeq RNA:NM_014611, UCSC Genome Browser:NM_014611, UniProtKB:Q9NU22 No chr6 90352494 90529442 89642775 89828021 +PA165479165 145553 HGNC:28781 ENSG00000213920 magnesium dependent phosphatase 1 MDP1 fructosamine-6-phosphatase, magnesium-dependent phosphatase 1 FN6Pase, MGC5987 Yes No Ensembl:ENSG00000213920, GeneCard:MDP1, HGNC:HGNC:28781, NCBI Gene:145553, RefSeq DNA:NT_026437, RefSeq Protein:NP_001186750, RefSeq Protein:NP_001186751, RefSeq Protein:NP_612485, RefSeq RNA:NM_001199821, RefSeq RNA:NM_001199822, RefSeq RNA:NM_138476, UniProtKB:Q86V88 No chr14 24683143 24685276 24213937 24216070 +PA142671475 259283 HGNC:29633 ENSG00000197880 myelodysplastic syndrome 2 translocation associated MDS2 Yes No Ensembl:ENSG00000197880, GeneCard:MDS2, HGNC:HGNC:29633, NCBI Gene:259283, OMIM:607305, RefSeq DNA:NT_004610, RefSeq RNA:NR_027042 No chr1 23953824 23967056 23627334 23640566 +PA30723 4199 HGNC:6983 ENSG00000065833 malic enzyme 1 ME1 """NADP-dependent malic enzyme"", ""malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+))"", ""malic enzyme 1, NADP(+)-dependent, cytosolic""" Yes No Comparative Toxicogenomics Database:4199, Ensembl:ENSG00000065833, GenAtlas:ME1, GeneCard:ME1, HGNC:HGNC:6983, HumanCyc Gene:HS00856, ModBase:P48163, NCBI Gene:4199, OMIM:154250, RefSeq DNA:NT_007299, RefSeq Protein:NP_002386, RefSeq RNA:NM_002395, UCSC Genome Browser:NM_002395, UniProtKB:P48163 No chr6 83920108 84140938 83210389 83431219 +PA30724 4200 HGNC:6984 ENSG00000082212 malic enzyme 2 ME2 """NAD-dependent malic enzyme, mitochondrial"", ""malate dehydrogenase (oxaloacetate-decarboxylating)"", ""malic enzyme 2, NAD(+)-dependent, mitochondrial""" Yes No Comparative Toxicogenomics Database:4200, Ensembl:ENSG00000082212, GenAtlas:ME2, GeneCard:ME2, HGNC:HGNC:6984, HumanCyc Gene:HS01417, ModBase:P23368, NCBI Gene:4200, OMIM:154270, OMIM:600669, OMIM:610064, RefSeq DNA:NG_016198, RefSeq DNA:NT_010966, RefSeq Protein:NP_001161807, RefSeq Protein:NP_002387, RefSeq RNA:NM_001168335, RefSeq RNA:NM_002396, UCSC Genome Browser:NM_002396, UniProtKB:B2R8J2, UniProtKB:P23368, UniProtKB:Q9BWL6 No chr18 48405432 48476165 50878604 50949795 +PA30725 10873 HGNC:6985 ENSG00000151376 malic enzyme 3 ME3 """malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+))"", ""malic enzyme 3, NADP(+)-dependent, mitochondrial""" Yes Yes Comparative Toxicogenomics Database:10873, Ensembl:ENSG00000151376, GenAtlas:ME3, GeneCard:ME3, HGNC:HGNC:6985, HumanCyc Gene:HS07730, ModBase:Q16798, NCBI Gene:10873, OMIM:604626, RefSeq DNA:NT_167190, RefSeq Protein:NP_001014811, RefSeq Protein:NP_001155058, RefSeq Protein:NP_006671, RefSeq RNA:NM_001014811, RefSeq RNA:NM_001161586, RefSeq RNA:NM_006680, UCSC Genome Browser:NM_006680, UniProtKB:B2R995, UniProtKB:Q16798, UniProtKB:Q6TCH8, UniProtKB:Q8TBJ0 No chr11 86152150 86383678 86441108 86674745 +PA30726 4201 HGNC:6986 ENSG00000124733 male-enhanced antigen 1 MEA1 MEA Yes No Ensembl:ENSG00000124733, GenAtlas:MEA1, GeneCard:MEA1, HGNC:HGNC:6986, HumanCyc Gene:HS04823, NCBI Gene:4201, OMIM:143170, RefSeq DNA:NT_007592, RefSeq Protein:NP_055438, RefSeq RNA:NM_014623, UCSC Genome Browser:NM_014623, UniProtKB:Q16626 No chr6 42948082 42981947 42980344 43016886 +PA165751536 64769 HGNC:25674 ENSG00000163875 MYST/Esa1 associated factor 6 MEAF6 Esa1p-associated factor 6 homolog (S. cerevisiae), MYST/Esa1-associated factor 6, centromere protein 28 C1orf149, CENP-28, Eaf6, FLJ11730, NY-SAR-91 Yes No Ensembl:ENSG00000163875, GeneCard:MEAF6, HGNC:HGNC:25674, HumanCyc Gene:HS15118, NCBI Gene:64769, OMIM:611001, RefSeq DNA:NT_032977, RefSeq Protein:NP_073593, RefSeq RNA:NM_022756, UniProtKB:Q9HAF1 No chr1 37955561 37980420 37489960 37514819 +PA144596416 57707 HGNC:29325 ENSG00000140950 MTOR associated protein, eak-7 homolog MEAK7 TBC/LysM-associated domain containing 1, TLD domain containing 1, mammalian EAK-7 KIAA1609, TLDC1, mEAK-7 Yes No Comparative Toxicogenomics Database:57707, Ensembl:ENSG00000140950, GeneCard:KIAA1609, HGNC:HGNC:29325, NCBI Gene:57707, RefSeq DNA:NT_010498, RefSeq Protein:NP_065998, RefSeq RNA:NM_020947, UniProtKB:A8K5C2, UniProtKB:Q6P9B6 No chr16 84509966 84538366 84476355 84504752 +PA27912 2122 HGNC:3498 ENSG00000085276 MDS1 and EVI1 complex locus MECOM PR domain 3 EVI1, KMT8E, MDS1, MDS1-EVI1, PRDM3 Yes No Comparative Toxicogenomics Database:2122, Ensembl:ENSG00000085276, GenAtlas:EVI1, GeneCard:EVI1, GeneCard:MECOM, HGNC:HGNC:3498, HumanCyc Gene:HS01490, ModBase:Q03112, NCBI Gene:2122, OMIM:165215, OMIM:600049, RefSeq DNA:NT_005612, RefSeq Protein:NP_001098547, RefSeq Protein:NP_001098548, RefSeq Protein:NP_001157471, RefSeq Protein:NP_001157472, RefSeq Protein:NP_001192123, RefSeq Protein:NP_004982, RefSeq Protein:NP_005232, RefSeq RNA:NM_001105077, RefSeq RNA:NM_001105078, RefSeq RNA:NM_001163999, RefSeq RNA:NM_001164000, RefSeq RNA:NM_001205194, RefSeq RNA:NM_004991, RefSeq RNA:NM_005241, UCSC Genome Browser:NM_005241, UniProtKB:Q03112, UniProtKB:Q13465 No chr3 168801287 169381563 169083499 169663781 +PA30729 4204 HGNC:6990 ENSG00000169057 methyl-CpG binding protein 2 MECP2 methyl CpG binding protein 2, methyl CpG binding protein 2 (Rett syndrome) MRX16, MRX79, RTT Yes Yes Comparative Toxicogenomics Database:4204, Ensembl:ENSG00000169057, GenAtlas:MECP2, GeneCard:MECP2, HGNC:HGNC:6990, HumanCyc Gene:HS09874, ModBase:P51608, NCBI Gene:4204, OMIM:105830, OMIM:300005, OMIM:300055, OMIM:300260, OMIM:300496, OMIM:300673, OMIM:312750, RefSeq DNA:NG_007107, RefSeq DNA:NT_167198, RefSeq Protein:NP_001104262, RefSeq Protein:NP_004983, RefSeq RNA:NM_001110792, RefSeq RNA:NM_004992, UCSC Genome Browser:NM_004992, UniProtKB:P51608, UniProtKB:Q59FJ6 No chrX 153287025 153363188 154021800 154097731 +PA142671471 51102 HGNC:19691 ENSG00000116353 mitochondrial trans-2-enoyl-CoA reductase MECR mitochondrial 2-enoyl thioester reductase, nuclear receptor binding factor 1 CGI-63, ETR1, FASN2B, NRBF1 Yes No Comparative Toxicogenomics Database:51102, Ensembl:ENSG00000116353, GeneCard:MECR, HGNC:HGNC:19691, HumanCyc Gene:HS04010, ModBase:Q9BV79, NCBI Gene:51102, OMIM:608205, RefSeq DNA:NT_004610, RefSeq Protein:NP_001019903, RefSeq Protein:NP_057095, RefSeq RNA:NM_001024732, RefSeq RNA:NM_016011, UniProtKB:Q9BV79 No chr1 29519385 29557460 29192657 29230958 +PA33556 5469 HGNC:9234 ENSG00000125686 mediator complex subunit 1 MED1 CRSP1, CRSP200, DRIP230, PBP, PPARBP, PPARGBP, RB18A, TRAP220, TRIP2 Yes No Comparative Toxicogenomics Database:5469, Ensembl:ENSG00000125686, GenAtlas:PPARBP, GeneCard:MED1, GeneCard:PPARBP, HGNC:HGNC:9234, HumanCyc Gene:HS04914, NCBI Gene:5469, OMIM:604311, RefSeq DNA:NT_010755, RefSeq DNA:NT_010783, RefSeq Protein:NP_004765, RefSeq RNA:NM_004774, UCSC Genome Browser:NM_004774, UniProtKB:Q15648 No chr17 37560538 37607527 39404285 39451281 +PA144596412 84246 HGNC:28760 ENSG00000133398 mediator complex subunit 10 MED10 NUT2 homolog (S. cerevisiae) L6, MGC5309, NUT2, TRG20 Yes No Comparative Toxicogenomics Database:84246, Ensembl:ENSG00000133398, GeneCard:MED10, HGNC:HGNC:28760, NCBI Gene:84246, OMIM:612382, RefSeq DNA:NT_006576, RefSeq Protein:NP_115662, RefSeq RNA:NM_032286, UniProtKB:Q9BTT4 No chr5 6372039 6378639 6371926 6378526 +PA144596413 400569 HGNC:32687 ENSG00000161920 mediator complex subunit 11 MED11 HSPC296, MGC88387 Yes No Comparative Toxicogenomics Database:400569, Ensembl:ENSG00000161920, GeneCard:MED11, HGNC:HGNC:32687, NCBI Gene:400569, OMIM:612383, RefSeq DNA:NT_010718, RefSeq Protein:NP_001001683, RefSeq RNA:NM_001001683, UniProtKB:Q9P086 No chr17 4634723 4636902 4731408 4733610 +PA36645 9968 HGNC:11957 ENSG00000184634 mediator complex subunit 12 MED12 Kohtalo homolog ARC240, CAGH45, FGS1, HOPA, KIAA0192, Kto, OKS, OPA1, TNRC11, TRAP230 Yes No Comparative Toxicogenomics Database:9968, Ensembl:ENSG00000184634, GenAtlas:MED12, GeneCard:MED12, HGNC:HGNC:11957, ModBase:Q93074, NCBI Gene:9968, OMIM:300188, OMIM:305450, OMIM:309520, RefSeq DNA:NG_012808, RefSeq DNA:NT_011669, RefSeq Protein:NP_005111, RefSeq RNA:NM_005120, UCSC Genome Browser:NM_005120, UniProtKB:Q93074 No chrX 70338406 70362304 71118556 71142454 +PA134884590 116931 HGNC:16050 ENSG00000144893 mediator complex subunit 12L MED12L mediator complex subunit 12 like, mediator complex subunit 12-like KIAA1635, TNRC11L, TRALP, TRALPUSH Yes Yes Ensembl:ENSG00000144893, GeneCard:MED12L, HGNC:HGNC:16050, HumanCyc Gene:HS16415, ModBase:Q86YW9, NCBI Gene:116931, OMIM:611318, RefSeq DNA:NG_021244, RefSeq DNA:NT_005612, RefSeq Protein:NP_443728, RefSeq RNA:NM_053002, UniProtKB:Q86YW9 No chr3 150803452 151154465 151085665 151436677 +PA162395168 9969 HGNC:22474 ENSG00000108510 mediator complex subunit 13 MED13 KIAA0593, THRAP1, TRAP240 Yes No Ensembl:ENSG00000108510, GeneCard:MED13, HGNC:HGNC:22474, HumanCyc Gene:HS03114, NCBI Gene:9969, OMIM:603808, RefSeq DNA:NT_010783, RefSeq Protein:NP_005112, RefSeq RNA:NM_005121, UniProtKB:B2RU05, UniProtKB:Q9UHV7 No chr17 60019966 60142643 61942605 62065983 +PA162395233 23389 HGNC:22962 ENSG00000123066 mediator complex subunit 13L MED13L mediator complex subunit 13 like, mediator complex subunit 13-like KIAA1025, THRAP2, TRAP240L Yes No Ensembl:ENSG00000123066, GeneCard:MED13L, HGNC:HGNC:22962, ModBase:Q71F56, NCBI Gene:23389, OMIM:608771, OMIM:608808, RefSeq DNA:NG_023366, RefSeq DNA:NT_009775, RefSeq Protein:NP_056150, RefSeq RNA:NM_015335, UniProtKB:Q71F56 No chr12 116396381 116714991 115958576 116277219 +PA26890 9282 HGNC:2370 ENSG00000180182 mediator complex subunit 14 MED14 CRSP150, CRSP2, CSRP, CXorf4, EXLM1, RGR1, TRAP170 Yes No Comparative Toxicogenomics Database:9282, Ensembl:ENSG00000180182, GenAtlas:CRSP2, GeneCard:CRSP2, GeneCard:MED14, HGNC:HGNC:2370, HumanCyc Gene:HS11462, NCBI Gene:9282, OMIM:300182, RefSeq DNA:NG_016325, RefSeq DNA:NT_079573, RefSeq Protein:NP_004220, RefSeq RNA:NM_004229, UCSC Genome Browser:NM_004229, UniProtKB:O60244 No chrX 40508795 40595374 40649543 40736122 +PA166181561 100873985 HGNC:40162 ENSG00000234636 MED14 opposite strand MED14OS MED14-AS1 Yes No Ensembl:ENSG00000234636, HGNC:HGNC:40162, NCBI Gene:100873985 No 0 0 0 0 +PA26891 359791 HGNC:2371 cofactor required for Sp1 transcriptional activation, subunit 2, pseudogene MED14P1 Yes No GenAtlas:CRSP2P, GeneCard:CRSP2P, HGNC:HGNC:2371, NCBI Gene:359791 No chrY 14730917 14746332 12618985 12634401 +PA33088 51586 HGNC:14248 ENSG00000099917 mediator complex subunit 15 MED15 Arc105, CAG7A, PCQAP, TIG-1, TNRC7 Yes No Comparative Toxicogenomics Database:51586, Ensembl:ENSG00000099917, GenAtlas:PCQAP, GeneCard:MED15, GeneCard:PCQAP, HGNC:HGNC:14248, HumanCyc Gene:HS01930, NCBI Gene:51586, OMIM:607372, RefSeq DNA:NT_011520, RefSeq Protein:NP_001003891, RefSeq Protein:NP_056973, RefSeq RNA:NM_001003891, RefSeq RNA:NM_015889, UCSC Genome Browser:NM_015889, UniProtKB:Q96RN5 No chr22 20861849 20941919 20507542 20587632 +PA134983883 326615 HGNC:19271 ENSG00000257853 mediator complex subunit 15 pseudogene 1 MED15P1 Yes No Ensembl:ENSG00000257853, HGNC:HGNC:19271, NCBI Gene:326615, RefSeq DNA:NG_002605, RefSeq DNA:NT_026437 No chr14 19498019 19502383 19485315 19489687 +PA162395406 10025 HGNC:17556 ENSG00000175221 mediator complex subunit 16 MED16 DRIP92, THRAP5, TRAP95 Yes No Ensembl:ENSG00000175221, GeneCard:MED16, HGNC:HGNC:17556, HumanCyc Gene:HS10900, ModBase:Q9Y2X0, NCBI Gene:10025, OMIM:604062, RefSeq DNA:NT_011255, RefSeq Protein:NP_005472, RefSeq RNA:NM_005481, UniProtKB:Q9Y2X0 No chr19 867961 893218 867961 893228 +PA162395443 9440 HGNC:2375 ENSG00000042429 mediator complex subunit 17 MED17 CRSP6, CRSP77, DRIP80, SRB4, TRAP80 Yes No Ensembl:ENSG00000042429, GeneCard:MED17, HGNC:HGNC:2375, HumanCyc Gene:HS00559, NCBI Gene:9440, OMIM:603810, RefSeq DNA:NT_167190, RefSeq Protein:NP_004259, RefSeq RNA:NM_004268, UniProtKB:Q9NVC6 No chr11 93517405 93546496 93784239 93813330 +PA134884523 54797 HGNC:25944 ENSG00000130772 mediator complex subunit 18 MED18 FLJ20045, SRB5, p28b Yes No Comparative Toxicogenomics Database:54797, Ensembl:ENSG00000130772, GeneCard:MED18, HGNC:HGNC:25944, HumanCyc Gene:HS13353, ModBase:Q9BUE0, NCBI Gene:54797, OMIM:612384, RefSeq DNA:NT_004610, RefSeq Protein:NP_001120822, RefSeq Protein:NP_060108, RefSeq RNA:NM_001127350, RefSeq RNA:NM_017638, UniProtKB:Q9BUE0 No chr1 28655513 28662478 28329002 28335967 +PA134926032 219541 HGNC:29600 ENSG00000156603 mediator complex subunit 19 MED19 LCMR1 Yes Yes Comparative Toxicogenomics Database:219541, Ensembl:ENSG00000156603, GeneCard:MED19, HGNC:HGNC:29600, HumanCyc Gene:HS14627, NCBI Gene:219541, OMIM:612385, RefSeq DNA:NT_167190, RefSeq Protein:NP_703151, RefSeq RNA:NM_153450, UniProtKB:A0JLT2 No chr11 57471182 57479804 57703709 57712323 +PA162395472 9477 HGNC:16840 ENSG00000124641 mediator complex subunit 20 MED20 DKFZp586D2223, PRO0213, SRB2, TRFP Yes No Ensembl:ENSG00000124641, GeneCard:MED20, HGNC:HGNC:16840, HumanCyc Gene:HS04810, ModBase:Q9H944, NCBI Gene:9477, OMIM:612915, RefSeq DNA:NT_007592, RefSeq Protein:NP_004266, RefSeq RNA:NM_004275, UniProtKB:Q9H944 No chr6 41873092 41888877 41905353 41921147 +PA162395485 9412 HGNC:11473 ENSG00000152944 mediator complex subunit 21 MED21 SRB7, SURB7 Yes No Ensembl:ENSG00000152944, GeneCard:MED21, HGNC:HGNC:11473, HumanCyc Gene:HS07864, ModBase:Q13503, NCBI Gene:9412, OMIM:603800, RefSeq DNA:NT_009714, RefSeq Protein:NP_004255, RefSeq RNA:NM_004264, UniProtKB:Q13503 No chr12 27175455 27183606 27022522 27030673 +PA162395486 6837 HGNC:11477 ENSG00000148297 mediator complex subunit 22 MED22 Med24, SRB6, SURF5 Yes No Ensembl:ENSG00000148297, GeneCard:MED22, HGNC:HGNC:11477, HumanCyc Gene:HS07509, ModBase:Q15528, NCBI Gene:6837, OMIM:185641, RefSeq DNA:NG_000837, RefSeq DNA:NT_035014, RefSeq Protein:NP_598395, RefSeq Protein:NP_852468, RefSeq RNA:NM_133640, RefSeq RNA:NM_181491, UniProtKB:Q15528 No chr9 136207751 136215011 133340901 133348156 +PA162395499 9439 HGNC:2372 ENSG00000112282 mediator complex subunit 23 MED23 CRSP130, CRSP3, DRIP130, MRT18, Sur2 Yes No Ensembl:ENSG00000112282, GeneCard:MED23, HGNC:HGNC:2372, HumanCyc Gene:HS03547, NCBI Gene:9439, OMIM:605042, RefSeq DNA:NT_025741, RefSeq Protein:NP_004821, RefSeq Protein:NP_057063, RefSeq RNA:NM_004830, RefSeq RNA:NM_015979, UniProtKB:Q05DL5, UniProtKB:Q9ULK4 No chr6 131895106 131949379 131573966 131628239 +PA162395566 9862 HGNC:22963 ENSG00000008838 mediator complex subunit 24 MED24 CRSP100, CRSP4, DRIP100, KIAA0130, MED5, THRAP4, TRAP100 Yes No Ensembl:ENSG00000008838, GeneCard:MED24, HGNC:HGNC:22963, HumanCyc Gene:HS00256, NCBI Gene:9862, OMIM:607000, RefSeq DNA:NT_010755, RefSeq DNA:NT_010783, RefSeq Protein:NP_001072986, RefSeq Protein:NP_055630, RefSeq RNA:NM_001079518, RefSeq RNA:NM_014815, UniProtKB:A8K4S5, UniProtKB:B3KMR9, UniProtKB:O75448 No chr17 38175350 38210889 40019097 40054636 +PA134984839 81857 HGNC:28845 ENSG00000104973 mediator complex subunit 25 MED25 ACID1, ARC92, DKFZp434K0512, TCBAP0758 Yes No Ensembl:ENSG00000104973, GeneCard:MED25, HGNC:HGNC:28845, HumanCyc Gene:HS12567, ModBase:Q9HB34, NCBI Gene:81857, OMIM:605589, OMIM:610197, RefSeq DNA:NG_017091, RefSeq DNA:NT_011109, RefSeq Protein:NP_112235, RefSeq RNA:NM_030973, UniProtKB:Q71SY5 No chr19 50321319 50340237 49818279 49840384 +PA162395623 9441 HGNC:2376 ENSG00000105085 mediator complex subunit 26 MED26 CRSP7, CRSP70 Yes No Ensembl:ENSG00000105085, GeneCard:MED26, HGNC:HGNC:2376, HumanCyc Gene:HS02673, ModBase:O95402, NCBI Gene:9441, OMIM:605043, RefSeq DNA:NT_011295, RefSeq Protein:NP_004822, RefSeq RNA:NM_004831, UniProtKB:O95402 No chr19 16685718 16739015 16574907 16628204 +PA162395634 9442 HGNC:2377 ENSG00000160563 mediator complex subunit 27 MED27 CRSP34, CRSP8, MED3, TRAP37 Yes No Ensembl:ENSG00000160563, GeneCard:MED27, HGNC:HGNC:2377, HumanCyc Gene:HS08506, ModBase:Q6P2C8, NCBI Gene:9442, OMIM:605044, RefSeq DNA:NT_035014, RefSeq Protein:NP_004260, RefSeq RNA:NM_004269, UniProtKB:Q6P2C8 No chr9 134735497 134955274 131860110 132079887 +PA134935853 80306 HGNC:24628 ENSG00000118579 mediator complex subunit 28 MED28 DKFZP434N185, EG1, magicin Yes No Comparative Toxicogenomics Database:80306, Ensembl:ENSG00000118579, GeneCard:MED28, HGNC:HGNC:24628, HumanCyc Gene:HS12921, NCBI Gene:80306, OMIM:610311, RefSeq DNA:NT_006316, RefSeq Protein:NP_079481, RefSeq RNA:NM_025205, UniProtKB:Q9H204 No chr4 17616273 17626160 17614628 17625628 +PA162395655 55588 HGNC:23074 ENSG00000063322 mediator complex subunit 29 MED29 DKFZp434H247, IXL, MED2 Yes No Ensembl:ENSG00000063322, GeneCard:MED29, HGNC:HGNC:23074, NCBI Gene:55588, OMIM:612914, RefSeq DNA:NT_011109, RefSeq Protein:NP_060062, RefSeq RNA:NM_017592, UniProtKB:B4DUA7, UniProtKB:Q9NX70 No chr19 39881893 39891203 39391303 39400637 +PA162395656 90390 HGNC:23032 ENSG00000164758 mediator complex subunit 30 MED30 THRAP6, TRAP25 Yes No Ensembl:ENSG00000164758, GeneCard:MED30, HGNC:HGNC:23032, HumanCyc Gene:HS15238, ModBase:Q96HR3, NCBI Gene:90390, OMIM:610237, RefSeq DNA:NT_008046, RefSeq Protein:NP_542382, RefSeq RNA:NM_080651, UniProtKB:Q96HR3 No chr8 118532532 118552510 117520546 117540262 +PA134884310 51003 HGNC:24260 ENSG00000108590 mediator complex subunit 31 MED31 CGI-125, Soh1 Yes No Comparative Toxicogenomics Database:51003, Ensembl:ENSG00000108590, GeneCard:MED31, HGNC:HGNC:24260, HumanCyc Gene:HS12677, NCBI Gene:51003, RefSeq DNA:NT_010718, RefSeq Protein:NP_057144, RefSeq RNA:NM_016060, UniProtKB:Q9Y3C7 No chr17 6546633 6555191 6643313 6651804 +PA134877001 29079 HGNC:17903 ENSG00000136146 mediator complex subunit 4 MED4 DRIP36, HSPC126, TRAP36, VDRIP Yes No Comparative Toxicogenomics Database:29079, Ensembl:ENSG00000136146, GeneCard:MED4, HGNC:HGNC:17903, HumanCyc Gene:HS06118, ModBase:Q9NPJ6, NCBI Gene:29079, OMIM:605718, RefSeq DNA:NT_024524, RefSeq Protein:NP_054885, RefSeq RNA:NM_014166, UniProtKB:Q9NPJ6 No chr13 48649864 48669277 48075728 48095141 +PA134868263 10001 HGNC:19970 ENSG00000133997 mediator complex subunit 6 MED6 NY-REN-28 Yes No Comparative Toxicogenomics Database:10001, Ensembl:ENSG00000133997, GeneCard:MED6, HGNC:HGNC:19970, HumanCyc Gene:HS05800, NCBI Gene:10001, OMIM:602984, RefSeq DNA:NT_026437, RefSeq Protein:NP_005457, RefSeq RNA:NM_005466, UniProtKB:O75586 No chr14 71050306 71067401 70583221 70600690 +PA162395669 9443 HGNC:2378 ENSG00000155868 mediator complex subunit 7 MED7 CRSP33, CRSP9 Yes No Ensembl:ENSG00000155868, GeneCard:MED7, HGNC:HGNC:2378, HumanCyc Gene:HS08074, ModBase:O43513, NCBI Gene:9443, OMIM:605045, RefSeq DNA:NT_023133, RefSeq Protein:NP_001094286, RefSeq Protein:NP_004261, RefSeq RNA:NM_001100816, RefSeq RNA:NM_004270, UniProtKB:O43513, UniProtKB:Q6IAZ5 No chr5 156565451 156569921 157138440 157142910 +PA134893073 112950 HGNC:19971 ENSG00000159479 mediator complex subunit 8 MED8 ARC32, MGC17544, MGC19641 Yes No Comparative Toxicogenomics Database:112950, Ensembl:ENSG00000159479, GeneCard:MED8, HGNC:HGNC:19971, HumanCyc Gene:HS14760, ModBase:Q96G25, NCBI Gene:112950, OMIM:607956, RefSeq DNA:NT_032977, RefSeq Protein:NP_443109, RefSeq Protein:NP_963836, RefSeq RNA:NM_052877, RefSeq RNA:NM_201542, UniProtKB:Q96G25 No chr1 43849579 43855483 43383908 43389812 +PA134925396 55090 HGNC:25487 ENSG00000141026 mediator complex subunit 9 MED9 FLJ10193, MED25 Yes No Comparative Toxicogenomics Database:55090, Ensembl:ENSG00000141026, GeneCard:MED9, HGNC:HGNC:25487, HumanCyc Gene:HS13856, ModBase:Q9NWA0, NCBI Gene:55090, OMIM:609878, RefSeq DNA:NT_010718, RefSeq Protein:NP_060489, RefSeq RNA:NM_018019, UniProtKB:Q9NWA0 No chr17 17380300 17396534 17476986 17493220 +PA147358556 84935 HGNC:25926 ENSG00000102802 mesenteric estrogen dependent adipogenesis MEDAG activated in W/Wv mouse stomach 3 homolog, mesenteric estrogen-dependent adipogenesis, mesenteric estrogen-dependent adipose 4 AWMS3, C13orf33, FLJ14834, MEDA-4 Yes No Ensembl:ENSG00000102802, GeneCard:C13orf33, HGNC:HGNC:25926, HumanCyc Gene:HS12493, NCBI Gene:84935, RefSeq DNA:NT_024524, RefSeq Protein:NP_116238, RefSeq RNA:NM_032849, UniProtKB:Q5VYS4 No chr13 31480312 31499709 30906175 30925577 +PA30731 4205 HGNC:6993 ENSG00000068305 myocyte enhancer factor 2A MEF2A RSRFC4, RSRFC9 Yes No Comparative Toxicogenomics Database:4205, Ensembl:ENSG00000068305, GenAtlas:MEF2A, GeneCard:MEF2A, HGNC:HGNC:6993, HumanCyc Gene:HS00933, ModBase:Q02078, NCBI Gene:4205, OMIM:600660, OMIM:608320, RefSeq DNA:NG_016443, RefSeq DNA:NT_010274, RefSeq Protein:NP_001124398, RefSeq Protein:NP_001124399, RefSeq Protein:NP_001124400, RefSeq Protein:NP_001165365, RefSeq Protein:NP_005578, RefSeq RNA:NM_001130926, RefSeq RNA:NM_001130927, RefSeq RNA:NM_001130928, RefSeq RNA:NM_001171894, RefSeq RNA:NM_005587, UCSC Genome Browser:NM_005587, UniProtKB:B4DFQ7, UniProtKB:Q02078, UniProtKB:Q59GX4, UniProtKB:Q7Z6C9 No chr15 100106133 100256688 99565455 99716488 +PA30732 4206 HGNC:6994 ENSG00000224620 myocyte enhancer factor 2A pseudogene 1 MEF2AP1 Yes No Ensembl:ENSG00000224620, GenAtlas:MEF2AP, GeneCard:MEF2AP1, HGNC:HGNC:6994, NCBI Gene:4206, RefSeq DNA:NG_003072, RefSeq DNA:NT_004487 No chr1 179416723 179417575 179447588 179448440 +PA30733 100271849 HGNC:6995 ENSG00000213999 myocyte enhancer factor 2B MEF2B RSRFR2 Yes No Comparative Toxicogenomics Database:4207, Ensembl:ENSG00000213999, GenAtlas:MEF2B, GeneCard:MEF2B, HGNC:HGNC:6995, ModBase:Q02080, NCBI Gene:100271849, OMIM:600661, RefSeq DNA:NT_011295, RefSeq Protein:NP_001139257, RefSeq RNA:NM_001145785, UCSC Genome Browser:NM_005919 No chr19 19256376 19281098 19145567 19170289 +PA30734 4208 HGNC:6996 ENSG00000081189 myocyte enhancer factor 2C MEF2C Yes No Comparative Toxicogenomics Database:4208, Ensembl:ENSG00000081189, GenAtlas:MEF2C, GeneCard:MEF2C, HGNC:HGNC:6996, HumanCyc Gene:HS01389, ModBase:Q06413, NCBI Gene:4208, OMIM:600662, OMIM:613443, RefSeq DNA:NG_023427, RefSeq DNA:NT_006713, RefSeq Protein:NP_001124477, RefSeq Protein:NP_001180276, RefSeq Protein:NP_001180277, RefSeq Protein:NP_001180278, RefSeq Protein:NP_001180279, RefSeq Protein:NP_002388, RefSeq RNA:NM_001131005, RefSeq RNA:NM_001193347, RefSeq RNA:NM_001193348, RefSeq RNA:NM_001193349, RefSeq RNA:NM_001193350, RefSeq RNA:NM_002397, UCSC Genome Browser:NM_002397, UniProtKB:C9JMZ0, UniProtKB:Q06413 No chr5 88014058 88199922 88718241 88904105 +PA30735 4209 HGNC:6997 ENSG00000116604 myocyte enhancer factor 2D MEF2D Yes Yes Comparative Toxicogenomics Database:4209, Ensembl:ENSG00000116604, GenAtlas:MEF2D, GeneCard:MEF2D, HGNC:HGNC:6997, HumanCyc Gene:HS04026, ModBase:Q14814, NCBI Gene:4209, OMIM:600663, RefSeq DNA:NT_004487, RefSeq Protein:NP_005911, RefSeq RNA:NM_005920, UCSC Genome Browser:NM_005920, UniProtKB:Q14814 No chr1 156433513 156470634 156463721 156500842 +PA30736 4210 HGNC:6998 ENSG00000103313 MEFV innate immunity regulator, pyrin MEFV """MEFV innate immuity regulator, pyrin"", ""MEFV, pyrin innate immunity regulator"", ""Mediterranean fever"", ""marenostrin"", ""pyrin""" FMF, MEF, TRIM20 Yes No Comparative Toxicogenomics Database:4210, Ensembl:ENSG00000103313, GenAtlas:MEFV, GeneCard:MEFV, HGNC:HGNC:6998, HumanCyc Gene:HS02487, ModBase:O15553, NCBI Gene:4210, OMIM:134610, OMIM:249100, OMIM:608107, RefSeq DNA:NG_007871, RefSeq DNA:NT_010393, RefSeq Protein:NP_000234, RefSeq Protein:NP_001185465, RefSeq RNA:NM_000243, RefSeq RNA:NM_001198536, UCSC Genome Browser:NM_000243, UniProtKB:O15553 No chr16 3292028 3306648 3242028 3256776 +PA30737 55384 HGNC:14575 ENSG00000214548 maternally expressed 3 (non-protein coding) MEG3 long intergenic non-protein coding RNA 23, non-protein coding RNA 23 GTL2, LINC00023, NCRNA00023 Yes Yes Comparative Toxicogenomics Database:55384, Ensembl:ENSG00000214548, GenAtlas:MEG3, GeneCard:MEG3, HGNC:HGNC:14575, HumanCyc Gene:HS11809, NCBI Gene:55384, OMIM:605636, RefSeq DNA:NG_016853, RefSeq DNA:NT_026437, RefSeq RNA:NR_002766, RefSeq RNA:NR_003530, RefSeq RNA:NR_003531, RefSeq RNA:NR_033358, RefSeq RNA:NR_033359, RefSeq RNA:NR_033360, UCSC Genome Browser:NM_018514 No chr14 101292445 101327363 100826108 100861026 +PA30738 79104 HGNC:14574 ENSG00000225746 maternally expressed 8 (non-protein coding) MEG8 Imprinted RNA near Meg3/Gtl2, RNA Imprinted and Accumulated in Nucleus, long intergenic non-protein coding RNA 24, non-protein coding RNA 24 Bsr, Irm, LINC00024, NCRNA00024, Rian Yes No Ensembl:ENSG00000225746, GenAtlas:MEG8, GeneCard:MEG8, HGNC:HGNC:14574, NCBI Gene:79104, RefSeq DNA:NT_026437, RefSeq RNA:NR_024149 No chr14 101361107 101373305 100894770 100906968 +PA144596410 84466 HGNC:29634 ENSG00000145794 multiple EGF like domains 10 MEGF10 multiple EGF-like-domains 10 KIAA1780, SR-F3 Yes No Ensembl:ENSG00000145794, GeneCard:MEGF10, HGNC:HGNC:29634, HumanCyc Gene:HS07286, ModBase:Q96KG7, NCBI Gene:84466, OMIM:612453, RefSeq DNA:NT_034772, RefSeq Protein:NP_115822, RefSeq RNA:NM_032446, UniProtKB:Q96KG7 No chr5 126565206 126796914 127229519 127461222 +PA144596411 84465 HGNC:29635 ENSG00000157890 multiple EGF like domains 11 MEGF11 multiple EGF-like-domains 11 DKFZp434L121, KIAA1781 Yes No Ensembl:ENSG00000157890, GeneCard:MEGF11, HGNC:HGNC:29635, HumanCyc Gene:HS08250, NCBI Gene:84465, OMIM:612454, RefSeq DNA:NT_010194, RefSeq Protein:NP_115821, RefSeq RNA:NM_032445, UniProtKB:A6BM72 No chr15 66187634 66546075 65895296 66253737 +PA27665 1953 HGNC:3232 ENSG00000162591 multiple EGF like domains 6 MEGF6 multiple EGF-like-domains 6 EGFL3 Yes No Ensembl:ENSG00000162591, GenAtlas:MEGF6, GeneCard:MEGF6, HGNC:HGNC:3232, HumanCyc Gene:HS08695, ModBase:O75095, NCBI Gene:1953, OMIM:604266, RefSeq DNA:NT_004350, RefSeq Protein:NP_001400, RefSeq RNA:NM_001409, UniProtKB:O75095 No chr1 3404506 3528059 3487942 3624757 +PA27666 1954 HGNC:3233 ENSG00000105429 multiple EGF like domains 8 MEGF8 HBV pre s2 binding protein 1, multiple EGF-like-domains 8 C19orf49, EGFL4, FLJ22365, SBP1 Yes No Comparative Toxicogenomics Database:1954, Ensembl:ENSG00000105429, GenAtlas:MEGF8, GeneCard:MEGF8, HGNC:HGNC:3233, HumanCyc Gene:HS02739, NCBI Gene:1954, OMIM:604267, RefSeq DNA:NT_011109, RefSeq Protein:NP_001401, RefSeq RNA:NM_001410, UniProtKB:Q7Z7M0 No chr19 42829730 42882921 42325609 42378769 +PA27667 1955 HGNC:3234 ENSG00000106780 multiple EGF like domains 9 MEGF9 multiple EGF-like-domains 9 EGFL5 Yes No Ensembl:ENSG00000106780, GenAtlas:MEGF9, GeneCard:MEGF9, HGNC:HGNC:3234, HumanCyc Gene:HS02949, ModBase:Q9H1U4, NCBI Gene:1955, OMIM:604268, RefSeq DNA:NT_008470, RefSeq Protein:NP_001073966, RefSeq RNA:NM_001080497, UniProtKB:C9J1K8 No chr9 123363196 123476765 120600918 120714487 +PA162395678 150365 HGNC:28613 ENSG00000167077 meiotic double-stranded break formation protein 1 MEI1 meiosis inhibitor 1, spermatogenesis associated 38 MGC40042, SPATA38 Yes No Ensembl:ENSG00000167077, GeneCard:MEI1, HGNC:HGNC:28613, ModBase:Q5TIA1, NCBI Gene:150365, OMIM:608797, RefSeq DNA:NT_011520, RefSeq Protein:NP_689726, RefSeq RNA:NM_152513, UniProtKB:Q4G0I1, UniProtKB:Q5TIA1 No chr22 42095518 42195459 41699503 41799456 +PA166123702 101928601 HGNC:43638 ENSG00000269964 meiotic double-stranded break formation protein 4 MEI4 meiosis-specific 4 homolog (S. cerevisiae) Yes No Ensembl:ENSG00000269964, HGNC:HGNC:43638, NCBI Gene:101928601 No +PA134895701 644890 HGNC:23429 ENSG00000197889 meiosis/spermiogenesis associated 1 MEIG1 meiosis expressed gene 1 homolog (mouse), spermatogenesis associated 39 SPATA39, bA2K17.3 Yes No Ensembl:ENSG00000197889, GeneCard:MEIG1, HGNC:HGNC:23429, NCBI Gene:644890, RefSeq DNA:NT_008705, RefSeq Protein:NP_001074305, RefSeq RNA:NM_001080836, UniProtKB:Q5JSS6 No chr10 14996324 15014856 14959439 14972851 +PA166181562 728637 HGNC:51253 ENSG00000239642 meiotic kinetochore factor MEIKIN SPO13 Yes No Ensembl:ENSG00000239642, HGNC:HGNC:51253, NCBI Gene:728637 No 0 0 0 0 +PA145149601 254528 HGNC:28569 ENSG00000162039 meiosis specific with OB-fold MEIOB meiosis specific with OB domains C16orf73, MGC35212 Yes No Ensembl:ENSG00000162039, GeneCard:C16orf73, HGNC:HGNC:28569, HumanCyc Gene:HS14892, NCBI Gene:254528, RefSeq DNA:NT_010393, RefSeq Protein:NP_001157032, RefSeq Protein:NP_689977, RefSeq RNA:NM_001163560, RefSeq RNA:NM_152764, UniProtKB:C9J0S1, UniProtKB:Q8N635 No chr16 1883984 1922179 1833983 1872178 +PA165431498 284071 HGNC:26670 ENSG00000180336 meiosis specific with coiled-coil domain MEIOC chromosome 17 open reading frame 104 C17orf104, FLJ35848 Yes No Ensembl:ENSG00000180336, GeneCard:C17orf104, HGNC:HGNC:26670, NCBI Gene:284071, RefSeq DNA:NT_010783, RefSeq Protein:NP_001138552, RefSeq RNA:NM_001145080, UniProtKB:A2RUB1 No chr17 42733762 42755673 44656394 44677086 +PA166351963 388553 HGNC:44318 meiosis initiator MEIOSIN HMG domain containing BHMG1, HMGDC Yes No HGNC:HGNC:44318, NCBI Gene:388553 No 0 0 0 0 +PA30740 4211 HGNC:7000 ENSG00000143995 Meis homeobox 1 MEIS1 Yes No Comparative Toxicogenomics Database:4211, Ensembl:ENSG00000143995, GenAtlas:MEIS1, GeneCard:MEIS1, HGNC:HGNC:7000, HumanCyc Gene:HS07132, ModBase:O00470, NCBI Gene:4211, OMIM:601739, RefSeq DNA:NG_011467, RefSeq DNA:NT_022184, RefSeq Protein:NP_002389, RefSeq RNA:NM_002398, UCSC Genome Browser:NM_002398, UniProtKB:O00470 No chr2 66662257 66799891 66435125 66572765 +PA30741 4212 HGNC:7001 ENSG00000134138 Meis homeobox 2 MEIS2 HsT18361, MRG1 Yes No Comparative Toxicogenomics Database:4212, Ensembl:ENSG00000134138, GenAtlas:MEIS2, GeneCard:MEIS2, HGNC:HGNC:7001, HumanCyc Gene:HS05823, ModBase:O14770, NCBI Gene:4212, OMIM:601740, RefSeq DNA:NT_010194, RefSeq Protein:NP_001207411, RefSeq Protein:NP_002390, RefSeq Protein:NP_733774, RefSeq Protein:NP_733775, RefSeq Protein:NP_733776, RefSeq Protein:NP_733777, RefSeq Protein:NP_758526, RefSeq Protein:NP_758527, RefSeq RNA:NM_001220482, RefSeq RNA:NM_002399, RefSeq RNA:NM_170674, RefSeq RNA:NM_170675, RefSeq RNA:NM_170676, RefSeq RNA:NM_170677, RefSeq RNA:NM_172315, RefSeq RNA:NM_172316, UCSC Genome Browser:NM_002399, UCSC Genome Browser:NM_020149, UniProtKB:B3KP98, UniProtKB:B3KPD8, UniProtKB:B3KPQ6, UniProtKB:O14770, UniProtKB:Q96DI2 No chr15 37183222 37393500 36891021 37101299 +PA30742 56917 HGNC:29537 ENSG00000105419 Meis homeobox 3 MEIS3 DKFZp547H236, MRG2 Yes No Comparative Toxicogenomics Database:56917, Ensembl:ENSG00000105419, GenAtlas:MEIS3, GeneCard:MEIS3, HGNC:HGNC:29537, ModBase:Q99687, NCBI Gene:56917, RefSeq DNA:NT_011109, RefSeq Protein:NP_001009813, RefSeq Protein:NP_064545, RefSeq RNA:NM_001009813, RefSeq RNA:NM_020160, UniProtKB:Q99687 No chr19 47906375 47922785 47403118 47422315 +PA134990815 4213 HGNC:7002 ENSG00000179277 Meis homeobox 3 pseudogene 1 MEIS3P1 MRG2 Yes No Ensembl:ENSG00000179277, GeneCard:MEIS3P1, HGNC:HGNC:7002, NCBI Gene:4213, RefSeq DNA:NT_010718, RefSeq RNA:NR_002211 No chr17 15690164 15693019 15786850 15789705 +PA142671467 257468 HGNC:17638 ENSG00000188013 Meis homeobox 3 pseudogene 2 MEIS3P2 Yes No Ensembl:ENSG00000188013, GeneCard:MEIS3P2, HGNC:HGNC:17638, ModBase:A8K0S8, NCBI Gene:257468, RefSeq DNA:NG_002418, RefSeq DNA:NT_010718 No chr17 20492338 20494128 20588849 20590815 +PA134902874 9833 HGNC:16870 ENSG00000165304 maternal embryonic leucine zipper kinase MELK KIAA0175 Yes No Comparative Toxicogenomics Database:9833, Ensembl:ENSG00000165304, GeneCard:MELK, HGNC:HGNC:16870, HumanCyc Gene:HS09215, ModBase:Q14680, NCBI Gene:9833, OMIM:607025, RefSeq DNA:NT_008413, RefSeq Protein:NP_055606, RefSeq RNA:NM_014791, UniProtKB:Q14680 No chr9 36572859 36677680 36572862 36677683 +PA166351964 HGNC:7009 mel transforming oncogene-like 1 MELL1 Yes No HGNC:HGNC:7009 No 0 0 0 0 +PA30774 4241 HGNC:7037 ENSG00000163975 melanotransferrin MELTF antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5, melanotransferrin, membrane-bound transferrin-like protein CD228, FLJ38863, MAP97, MFI2, MGC4856, MTF1, MTf Yes No Comparative Toxicogenomics Database:4241, Ensembl:ENSG00000163975, GenAtlas:MFI2, GeneCard:MFI2, HGNC:HGNC:7037, HumanCyc Gene:HS08976, ModBase:P08582, NCBI Gene:4241, OMIM:155750, RefSeq DNA:NT_029928, RefSeq Protein:NP_005920, RefSeq Protein:NP_201573, RefSeq RNA:NM_005929, RefSeq RNA:NM_033316, UCSC Genome Browser:NM_005929, UniProtKB:P08582, UniProtKB:Q53XS6 No chr3 196728611 196756687 197001740 197029816 +PA162395745 51072 HGNC:14014 ENSG00000162959 mediator of cell motility 1 MEMO1 C2orf4, CGI-27, MEMO Yes No Ensembl:ENSG00000162959, GeneCard:MEMO1, HGNC:HGNC:14014, HumanCyc Gene:HS14994, ModBase:Q9Y316, NCBI Gene:51072, OMIM:611786, RefSeq DNA:NT_022184, RefSeq Protein:NP_001131074, RefSeq Protein:NP_057039, RefSeq RNA:NM_001137602, RefSeq RNA:NM_015955, UniProtKB:B4DLS0, UniProtKB:Q9Y316 No chr2 32092892 32236116 31867188 32011052 +PA30746 4221 HGNC:7010 ENSG00000133895 menin 1 MEN1 menin, multiple endocrine neoplasia I Yes No Comparative Toxicogenomics Database:4221, Ensembl:ENSG00000133895, GenAtlas:MEN1, GeneCard:MEN1, HGNC:HGNC:7010, HumanCyc Gene:HS05795, ModBase:O00255, NCBI Gene:4221, OMIM:131100, OMIM:145000, RefSeq DNA:NG_008929, RefSeq DNA:NT_167190, RefSeq Protein:NP_000235, RefSeq Protein:NP_570711, RefSeq Protein:NP_570712, RefSeq Protein:NP_570713, RefSeq Protein:NP_570714, RefSeq Protein:NP_570715, RefSeq Protein:NP_570716, RefSeq RNA:NM_000244, RefSeq RNA:NM_130799, RefSeq RNA:NM_130800, RefSeq RNA:NM_130801, RefSeq RNA:NM_130802, RefSeq RNA:NM_130803, RefSeq RNA:NM_130804, UCSC Genome Browser:NM_000244, UniProtKB:O00255, UniProtKB:Q9BUF0, UniProtKB:Q9GZQ5 No chr11 64570986 64578766 64803514 64811294 +PA30747 4222 HGNC:7013 ENSG00000005102 mesenchyme homeobox 1 MEOX1 MOX1 Yes No Comparative Toxicogenomics Database:4222, Ensembl:ENSG00000005102, GenAtlas:MEOX1, GeneCard:MEOX1, HGNC:HGNC:7013, HumanCyc Gene:HS00129, ModBase:P50221, NCBI Gene:4222, OMIM:600147, RefSeq DNA:NT_010783, RefSeq Protein:NP_001035091, RefSeq Protein:NP_004518, RefSeq Protein:NP_054705, RefSeq RNA:NM_001040002, RefSeq RNA:NM_004527, RefSeq RNA:NM_013999, UCSC Genome Browser:NM_004527, UniProtKB:A8MWF9, UniProtKB:P50221, UniProtKB:Q15069 No chr17 41717757 41739262 43640389 43661954 +PA30748 4223 HGNC:7014 ENSG00000106511 mesenchyme homeobox 2 MEOX2 growth arrest-specific homeobox GAX, MOX2 Yes No Comparative Toxicogenomics Database:4223, Ensembl:ENSG00000106511, GenAtlas:MEOX2, GeneCard:MEOX2, HGNC:HGNC:7014, HumanCyc Gene:HS02915, ModBase:P50222, NCBI Gene:4223, OMIM:600535, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_005915, RefSeq RNA:NM_005924, UCSC Genome Browser:NM_005924, UniProtKB:P50222 No chr7 15650837 15726308 15611212 15686683 +PA30749 4224 HGNC:7015 ENSG00000112818 meprin A subunit alpha MEP1A """PABA peptide hydrolase"", ""meprin A, alpha (PABA peptide hydrolase)""" PPHA Yes No Ensembl:ENSG00000112818, GenAtlas:MEP1A, GeneCard:MEP1A, HGNC:HGNC:7015, HumanCyc Gene:HS03624, ModBase:Q16819, NCBI Gene:4224, OMIM:600388, RefSeq DNA:NT_007592, RefSeq Protein:NP_005579, RefSeq RNA:NM_005588, UCSC Genome Browser:NM_005588, UniProtKB:Q16819 No chr6 46761094 46807519 46793357 46845987 +PA30750 642840 HGNC:7016 ENSG00000283246 meprin A, alpha pseudogene 1 MEP1AP1 Yes No Ensembl:ENSG00000283246, GenAtlas:MEP1AL1, GeneCard:MEP1AL1, HGNC:HGNC:7016, NCBI Gene:642840 No chr9 42332061 42339039 40187143 40193921 +PA30751 644777 HGNC:7017 meprin A, alpha pseudogene 2 MEP1AP2 Yes No GenAtlas:MEP1AL2, GeneCard:MEP1AL2, HGNC:HGNC:7017, NCBI Gene:644777 No chr9 70727366 70734147 +PA30754 4225 HGNC:7020 ENSG00000141434 meprin A subunit beta MEP1B meprin A, beta Yes No Ensembl:ENSG00000141434, GenAtlas:MEP1B, GeneCard:MEP1B, HGNC:HGNC:7020, HumanCyc Gene:HS06828, ModBase:Q16820, NCBI Gene:4225, OMIM:600389, RefSeq DNA:NT_010966, RefSeq Protein:NP_005916, RefSeq RNA:NM_005925, UCSC Genome Browser:NM_005925, UniProtKB:Q16820 No chr18 29769987 29800367 32190024 32222607 +PA162395768 56257 HGNC:20247 ENSG00000146834 methylphosphate capping enzyme MEPCE BCDIN3, FLJ20257, MePCE Yes No Ensembl:ENSG00000146834, GeneCard:MEPCE, HGNC:HGNC:20247, HumanCyc Gene:HS07375, ModBase:Q7L2J0, NCBI Gene:56257, OMIM:611478, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001181919, RefSeq Protein:NP_001181920, RefSeq Protein:NP_001181921, RefSeq Protein:NP_062552, RefSeq RNA:NM_001194990, RefSeq RNA:NM_001194991, RefSeq RNA:NM_001194992, RefSeq RNA:NM_019606, UniProtKB:Q7L2J0 No chr7 100026321 100031749 100428790 100434126 +PA30755 56955 HGNC:13361 ENSG00000152595 matrix extracellular phosphoglycoprotein MEPE Yes No Comparative Toxicogenomics Database:56955, Ensembl:ENSG00000152595, GenAtlas:MEPE, GeneCard:MEPE, HGNC:HGNC:13361, HumanCyc Gene:HS07838, ModBase:Q9NQ76, NCBI Gene:56955, OMIM:605912, RefSeq DNA:NT_016354, RefSeq Protein:NP_001171623, RefSeq Protein:NP_001171624, RefSeq Protein:NP_001171625, RefSeq Protein:NP_001171626, RefSeq Protein:NP_064588, RefSeq RNA:NM_001184694, RefSeq RNA:NM_001184695, RefSeq RNA:NM_001184696, RefSeq RNA:NM_001184697, RefSeq RNA:NM_020203, UCSC Genome Browser:NM_020203, UniProtKB:Q9NQ76 No chr4 88742563 88767969 87821398 87846817 +PA30759 10461 HGNC:7027 ENSG00000153208 MER proto-oncogene, tyrosine kinase MERTK c-mer proto-oncogene tyrosine kinase RP38, Tyro12, c-Eyk, mer Yes No Comparative Toxicogenomics Database:10461, Ensembl:ENSG00000153208, GenAtlas:MERTK, GeneCard:MERTK, HGNC:HGNC:7027, HumanCyc Gene:HS07891, ModBase:Q12866, NCBI Gene:10461, OMIM:268000, OMIM:604705, RefSeq DNA:NG_011607, RefSeq DNA:NT_022135, RefSeq Protein:NP_006334, RefSeq RNA:NM_006343, UCSC Genome Browser:NM_006343, UniProtKB:Q12866 No chr2 112656056 112797293 111898479 112039946 +PA30761 23184 HGNC:13520 ENSG00000117899 mesoderm development LRP chaperone MESD mesoderm development candidate 2 BOCA, KIAA0081, MESD, MESDC2 Yes No Comparative Toxicogenomics Database:23184, Ensembl:ENSG00000117899, GenAtlas:MESDC2, GeneCard:MESDC2, HGNC:HGNC:13520, HumanCyc Gene:HS04179, ModBase:Q14696, NCBI Gene:23184, OMIM:607783, RefSeq DNA:NT_010194, RefSeq Protein:NP_055969, RefSeq RNA:NM_015154, UniProtKB:Q14696 No chr15 81239667 81282235 80947326 80989878 +PA142671468 55897 HGNC:29658 ENSG00000166823 mesoderm posterior bHLH transcription factor 1 MESP1 mesoderm posterior 1 homolog (mouse), mesoderm posterior basic helix-loop-helix transcription factor 1 MGC10676, bHLHc5 Yes No Ensembl:ENSG00000166823, GeneCard:MESP1, HGNC:HGNC:29658, HumanCyc Gene:HS15492, ModBase:Q9BRJ9, NCBI Gene:55897, OMIM:608689, RefSeq DNA:NT_010274, RefSeq Protein:NP_061140, RefSeq RNA:NM_018670, UniProtKB:Q9BRJ9 No chr15 90293098 90294540 89734772 89751309 +PA142671469 145873 HGNC:29659 ENSG00000188095 mesoderm posterior bHLH transcription factor 2 MESP2 mesoderm posterior 2 homolog (mouse), mesoderm posterior basic helix-loop-helix transcription factor 2 SCDO2, bHLHc6 Yes No Comparative Toxicogenomics Database:145873, Ensembl:ENSG00000188095, GeneCard:MESP2, HGNC:HGNC:29659, NCBI Gene:145873, OMIM:605195, OMIM:608681, RefSeq DNA:NG_008608, RefSeq DNA:NT_010274, RefSeq Protein:NP_001035047, RefSeq RNA:NM_001039958, UniProtKB:Q0VG99 No chr15 90319589 90321985 89776358 89778754 +PA30762 4232 HGNC:7028 ENSG00000106484 mesoderm specific transcript MEST Paternally-expressed gene 1 PEG1 Yes No Comparative Toxicogenomics Database:4232, Ensembl:ENSG00000106484, GenAtlas:MEST, GeneCard:MEST, HGNC:HGNC:7028, HumanCyc Gene:HS02914, ModBase:Q5EB52, NCBI Gene:4232, OMIM:601029, RefSeq DNA:NG_009226, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_002393, RefSeq Protein:NP_803490, RefSeq Protein:NP_803491, RefSeq RNA:NM_002402, RefSeq RNA:NM_177524, RefSeq RNA:NM_177525, UCSC Genome Browser:NM_002402, UniProtKB:Q5EB52 No chr7 130126016 130146138 130486175 130506297 +PA134861866 317751 HGNC:17991 ENSG00000272701 MEST intronic transcript 1, antisense RNA MESTIT1 MEST antisense RNA 1 (non-protein coding), non-protein coding RNA 40 MEST-AS1, NCRNA00040 Yes No Ensembl:ENSG00000272701, GeneCard:MESTIT1, HGNC:HGNC:17991, NCBI Gene:317751, OMIM:607794, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_004382 No chr7 130126898 130131291 130487057 130491172 +PA142671470 338470 HGNC:29660 ENSG00000220884 mesoderm specific transcript pseudogene 1 MESTP1 Yes No Ensembl:ENSG00000220884, GeneCard:MESTP1, HGNC:HGNC:29660, NCBI Gene:338470, RefSeq DNA:NG_002694, RefSeq DNA:NT_025741 No chr6 129248901 129251361 128927756 128930216 +PA30763 4233 HGNC:7029 ENSG00000105976 MET proto-oncogene, receptor tyrosine kinase MET hepatocyte growth factor receptor, met proto-oncogene (hepatocyte growth factor receptor) DFNB97, HGFR, RCCP2 Yes Yes Comparative Toxicogenomics Database:4233, Ensembl:ENSG00000105976, GenAtlas:MET, GeneCard:MET, HGNC:HGNC:7029, HumanCyc Gene:HS02838, ModBase:P08581, NCBI Gene:4233, OMIM:114550, OMIM:164860, OMIM:605074, OMIM:611015, RefSeq DNA:NG_008996, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_000236, RefSeq Protein:NP_001120972, RefSeq RNA:NM_000245, RefSeq RNA:NM_001127500, UCSC Genome Browser:NM_000245, UniProtKB:A1L467, UniProtKB:P08581 No chr7 116312406 116438440 116672359 116798386 +PA30764 23173 HGNC:15789 ENSG00000164024 methionyl aminopeptidase 1 METAP1 Peptidase M KIAA0094, MAP1A, MetAP1A Yes No Comparative Toxicogenomics Database:23173, Ensembl:ENSG00000164024, GenAtlas:METAP1, GeneCard:METAP1, HGNC:HGNC:15789, HumanCyc Gene:HS08982, ModBase:P53582, NCBI Gene:23173, OMIM:610151, RefSeq DNA:NT_016354, RefSeq Protein:NP_055958, RefSeq RNA:NM_015143, UCSC Genome Browser:NM_015143, UniProtKB:P53582 No chr4 99916788 99983960 98995637 99062809 +PA166049007 254042 HGNC:32583 ENSG00000172878 methionyl aminopeptidase type 1D, mitochondrial METAP1D methionine aminopeptidase 1D, methionyl aminopeptidase type 1D (mitochondrial) MAP1D, Metap1l Yes No Ensembl:ENSG00000172878, HGNC:HGNC:32583, NCBI Gene:254042 No chr2 172864804 172947158 171999897 172082430 +PA30765 10988 HGNC:16672 ENSG00000111142 methionyl aminopeptidase 2 METAP2 Peptidase M MAP2, MNPEP, p67 Yes No Comparative Toxicogenomics Database:10988, Ensembl:ENSG00000111142, GenAtlas:METAP2, GeneCard:METAP2, HGNC:HGNC:16672, HumanCyc Gene:HS03371, ModBase:P50579, NCBI Gene:10988, OMIM:601870, RefSeq DNA:NT_029419, RefSeq Protein:NP_006829, RefSeq RNA:NM_006838, UCSC Genome Browser:NM_006838, UniProtKB:P50579 No chr12 95867822 95909615 95474046 95515839 +PA25537 79006 HGNC:14151 ENSG00000103260 meteorin, glial cell differentiation regulator METRN C16orf23, MGC2601 Yes No Comparative Toxicogenomics Database:79006, Ensembl:ENSG00000103260, GenAtlas:METRN, GeneCard:METRN, HGNC:HGNC:14151, HumanCyc Gene:HS12519, ModBase:Q9UJH8, NCBI Gene:79006, OMIM:610998, RefSeq DNA:NT_010393, RefSeq Protein:NP_076947, RefSeq RNA:NM_024042, UniProtKB:Q9UJH8 No chr16 765173 769655 715173 719655 +PA134970048 284207 HGNC:27584 ENSG00000176845 meteorin like, glial cell differentiation regulator METRNL """cometin"", ""meteorin, glial cell differentiation regulator-like"", ""subfatin""" Yes No Comparative Toxicogenomics Database:284207, Ensembl:ENSG00000176845, GeneCard:METRNL, HGNC:HGNC:27584, ModBase:Q641Q3, NCBI Gene:284207, RefSeq DNA:NT_010663, RefSeq Protein:NP_001004431, RefSeq RNA:NM_001004431, UniProtKB:Q641Q3 No chr17 81037567 81052867 83079691 83095126 +PA30766 4234 HGNC:7030 ENSG00000037897 methyltransferase 1, tRNA methylguanosine METTL1 methyltransferase like 1 C12orf1, TRM8, TRMT8 Yes Yes Comparative Toxicogenomics Database:4234, Ensembl:ENSG00000037897, GenAtlas:METTL1, GeneCard:METTL1, HGNC:HGNC:7030, HumanCyc Gene:HS00526, ModBase:Q9UBP6, NCBI Gene:4234, OMIM:604466, RefSeq DNA:NT_029419, RefSeq Protein:NP_005362, RefSeq Protein:NP_075422, RefSeq RNA:NM_005371, RefSeq RNA:NM_023033, UCSC Genome Browser:NM_005371, UniProtKB:Q53FS9, UniProtKB:Q9UBP6 No chr12 58162254 58165914 57768568 57772249 +PA166351965 51603 HGNC:24248 methyltransferase 13, eEF1A N-terminus and K55 METTL13 faint expression in normal tissues, aberrant overexpression in tumors CGI-01, DFNM1, EEF1AKNMT, FEAT, KIAA0859 Yes No HGNC:HGNC:24248, NCBI Gene:51603 No 0 0 0 0 +PA164722277 57721 HGNC:29330 ENSG00000145388 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit METTL14 methyltransferase like 14 KIAA1627 Yes Yes Ensembl:ENSG00000145388, GeneCard:METTL14, HGNC:HGNC:29330, HumanCyc Gene:HS14088, NCBI Gene:57721, RefSeq DNA:NT_016354, RefSeq Protein:NP_066012, RefSeq RNA:NM_020961, UniProtKB:Q9HCE5 No chr4 119606525 119633374 118685370 118712270 +PA142671458 196074 HGNC:26606 ENSG00000169519 methyltransferase 15, mitochondrial 12S rRNA N4-cytidine METTL15 methyltransferase like 15 FLJ33979, METT5D1 Yes No Comparative Toxicogenomics Database:196074, Ensembl:ENSG00000169519, GeneCard:METT5D1, HGNC:HGNC:26606, HumanCyc Gene:HS09963, NCBI Gene:196074, RefSeq DNA:NT_009237, RefSeq Protein:NP_001107000, RefSeq Protein:NP_689849, RefSeq RNA:NM_001113528, RefSeq RNA:NM_152636, UniProtKB:A6NJ78 No chr11 28129798 28355054 28108251 28527041 +PA142671459 100130758 HGNC:31926 ENSG00000174912 methyltransferase like 15 pseudogene 1 METTL15P1 Yes No Ensembl:ENSG00000174912, GeneCard:METTL15P1, HGNC:HGNC:31926, ModBase:P0C7V9, NCBI Gene:100130758, RefSeq DNA:NG_011761, RefSeq DNA:NT_005612 No chr3 156429192 156432818 156711403 156715029 +PA142671460 79066 HGNC:28484 ENSG00000127804 methyltransferase 16, RNA N6-adenosine METTL16 N6-methyladenosine methyltransferase, U6 snRNA methyltransferase, methyltransferase like 16 METT10D, MGC3329 Yes No Comparative Toxicogenomics Database:79066, Ensembl:ENSG00000127804, GeneCard:METT10D, HGNC:HGNC:28484, HumanCyc Gene:HS13246, ModBase:Q86W50, NCBI Gene:79066, RefSeq DNA:NT_010718, RefSeq Protein:NP_076991, RefSeq RNA:NM_024086, UniProtKB:Q86W50 No chr17 2319343 2415200 2416049 2511906 +PA145008140 64745 HGNC:19280 ENSG00000165792 methyltransferase like 17 METTL17 FLJ20859, METT11D1 Yes No Comparative Toxicogenomics Database:64745, Ensembl:ENSG00000165792, GeneCard:METT11D1, HGNC:HGNC:19280, HumanCyc Gene:HS15364, ModBase:Q9H7H0, NCBI Gene:64745, RefSeq DNA:NT_026437, RefSeq Protein:NP_001025162, RefSeq Protein:NP_073571, RefSeq RNA:NM_001029991, RefSeq RNA:NM_022734, UniProtKB:Q9H7H0 No chr14 21457432 21465194 20989806 20997035 +PA142672407 92342 HGNC:28793 ENSG00000171806 methyltransferase 18, RPL3 N3(tau)-histidine METTL18 histidine protein methyltransferase 1, methyltransferase like 18 AsTP2, C1orf156, HPM1, MGC9084 Yes No Ensembl:ENSG00000171806, GeneCard:C1orf156, HGNC:HGNC:28793, HumanCyc Gene:HS16025, ModBase:O95568, NCBI Gene:92342, RefSeq DNA:NT_004487, RefSeq Protein:NP_219486, RefSeq RNA:NM_033418, UniProtKB:O95568 No chr1 169761670 169764088 169792524 169794976 +PA145008433 151194 HGNC:30476 ENSG00000144401 methyltransferase 21A, HSPA lysine METTL21A Hepatocellular carcinoma-associated antigen 557b, heat shock protein 70kDa lysine (K) methyltransferase, methyltransferase like 21A FAM119A, HCA557b, HSPA-KMT, LOC151194 Yes Yes Ensembl:ENSG00000144401, GeneCard:FAM119A, HGNC:HGNC:30476, HumanCyc Gene:HS14019, ModBase:Q8WXB1, NCBI Gene:151194, RefSeq DNA:NT_005403, RefSeq Protein:NP_001120867, RefSeq Protein:NP_660323, RefSeq RNA:NM_001127395, RefSeq RNA:NM_145280, UniProtKB:Q8WXB1 No chr2 208473839 208490652 207580631 207625928 +PA162378126 196541 HGNC:33717 ENSG00000139780 methyltransferase 21C, AARS1 lysine METTL21C methyltransferase like 21C C13orf39, LOC196541 Yes No Ensembl:ENSG00000139780, GeneCard:C13orf39, HGNC:HGNC:33717, ModBase:Q5VZV1, NCBI Gene:196541, RefSeq DNA:NT_009952, RefSeq Protein:NP_001010977, RefSeq RNA:NM_001010977, UniProtKB:Q5VZV1 No chr13 103338097 103346871 102685747 102704311 +PA144596479 79091 HGNC:28368 ENSG00000067365 methyltransferase 22, Kin17 lysine METTL22 methyltransferase like 22 C16orf68, FLJ12433, MGC2654 Yes No Ensembl:ENSG00000067365, GeneCard:C16orf68, HGNC:HGNC:28368, HumanCyc Gene:HS12187, ModBase:Q9BUU2, NCBI Gene:79091, RefSeq DNA:NT_010393, RefSeq Protein:NP_077014, RefSeq RNA:NM_024109, UniProtKB:Q9BUU2 No chr16 8715497 8740079 8621640 8673565 +PA162378566 124512 HGNC:26988 ENSG00000181038 methyltransferase 23, arginine METTL23 methyltransferase like 23 C17orf95, LOC124512 Yes No Ensembl:ENSG00000181038, GeneCard:C17orf95, HGNC:HGNC:26988, ModBase:Q86XA0, NCBI Gene:124512, RefSeq DNA:NT_010783, RefSeq Protein:NP_001073979, RefSeq Protein:NP_001193912, RefSeq Protein:NP_001193913, RefSeq Protein:NP_001193914, RefSeq Protein:NP_001193915, RefSeq Protein:NP_001193916, RefSeq RNA:NM_001080510, RefSeq RNA:NM_001206983, RefSeq RNA:NM_001206984, RefSeq RNA:NM_001206985, RefSeq RNA:NM_001206986, RefSeq RNA:NM_001206987, RefSeq RNA:NR_038193, UniProtKB:Q86XA0 No chr17 74722912 74729962 76725874 76733881 +PA134906793 728464 HGNC:21566 ENSG00000053328 methyltransferase like 24 METTL24 C6orf186, dJ71D21.2 Yes No Ensembl:ENSG00000053328, GeneCard:METTL24, HGNC:HGNC:21566, ModBase:Q5JXM2, NCBI Gene:728464, RefSeq DNA:NT_025741, RefSeq Protein:NP_001116836, RefSeq RNA:NM_001123364, UniProtKB:Q5JXM2 No chr6 110566666 110679475 110245946 110358272 +PA142672297 84190 HGNC:26228 ENSG00000127720 methyltransferase like 25 METTL25 C12orf26, FLJ22789 Yes No Ensembl:ENSG00000127720, GeneCard:C12orf26, HGNC:HGNC:26228, ModBase:Q8N6Q8, NCBI Gene:84190, RefSeq DNA:NT_029419, RefSeq Protein:NP_115606, RefSeq RNA:NM_032230, UniProtKB:Q8N6Q8 No chr12 82752276 82873018 82358497 82479239 +PA166351966 51093 HGNC:24273 methyltransferase like 25B METTL25B C1orf66, CGI-41, RRNAD1 Yes No HGNC:HGNC:24273, NCBI Gene:51093 No 0 0 0 0 +PA25526 84326 HGNC:14141 ENSG00000130731 methyltransferase like 26 METTL26 chromosome 16 open reading frame 13 C16orf13, MGC13114 Yes No Ensembl:ENSG00000130731, GenAtlas:C16orf13, GeneCard:C16orf13, HGNC:HGNC:14141, HumanCyc Gene:HS13347, ModBase:Q96S19, NCBI Gene:84326, RefSeq DNA:NT_010393, RefSeq Protein:NP_001035250, RefSeq Protein:NP_001035251, RefSeq Protein:NP_001035252, RefSeq Protein:NP_001035255, RefSeq Protein:NP_115742, RefSeq RNA:NM_001040160, RefSeq RNA:NM_001040161, RefSeq RNA:NM_001040162, RefSeq RNA:NM_001040165, RefSeq RNA:NM_032366, UniProtKB:Q96S19 No chr16 684429 686371 634427 636366 +PA134905115 155368 HGNC:19068 ENSG00000165171 methyltransferase like 27 METTL27 Williams Beuren syndrome chromosome region 27 WBSCR27 Yes No Comparative Toxicogenomics Database:155368, Ensembl:ENSG00000165171, GeneCard:WBSCR27, HGNC:HGNC:19068, HumanCyc Gene:HS15295, ModBase:Q8N6F8, NCBI Gene:155368, OMIM:612546, RefSeq DNA:NG_023289, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_689772, RefSeq RNA:NM_152559, UniProtKB:Q8N6F8 No chr7 73248920 73256855 73834590 73842527 +PA143485532 339175 HGNC:25755 ENSG00000087995 methyltransferase 2A, tRNA N3-cytidine METTL2A methyltransferase like 2A FLJ12760, METTL2 Yes No Ensembl:ENSG00000087995, GeneCard:METTL2A, HGNC:HGNC:25755, NCBI Gene:339175, RefSeq DNA:NT_010783, RefSeq DNA:NT_079596, RefSeq Protein:NP_859076, RefSeq RNA:NM_181725, UniProtKB:B3KM33, UniProtKB:Q96IZ6 No chr17 60501246 60527454 62423885 62450093 +PA134924546 55798 HGNC:18272 ENSG00000165055 methyltransferase 2B, tRNA N3-cytidine METTL2B methyltransferase like 2B FLJ11350, METL, METTL2 Yes No Ensembl:ENSG00000165055, GeneCard:METTL2B, HGNC:HGNC:18272, HumanCyc Gene:HS09175, NCBI Gene:55798, OMIM:607846, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_060866, RefSeq RNA:NM_018396, UniProtKB:Q6P1Q9 No chr7 128116783 128142978 128476729 128502924 +PA134955499 56339 HGNC:17563 ENSG00000165819 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit METTL3 N6-adenosine-methyltransferase 70 kDa subunit, mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase, methyltransferase like 3 M6A, MT-A70, Spo8 Yes Yes Ensembl:ENSG00000165819, GeneCard:METTL3, HGNC:HGNC:17563, HumanCyc Gene:HS09289, ModBase:Q86U44, NCBI Gene:56339, OMIM:612472, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437, RefSeq Protein:NP_062826, RefSeq RNA:NM_019852, UniProtKB:Q86U44 No chr14 21966282 21979517 21498131 21511375 +PA134916468 64863 HGNC:24726 ENSG00000101574 methyltransferase 4, N6-adenosine METTL4 methyltransferase like 4 FLJ23017, HsT661 Yes No Comparative Toxicogenomics Database:64863, Ensembl:ENSG00000101574, GeneCard:METTL4, HGNC:HGNC:24726, HumanCyc Gene:HS02291, NCBI Gene:64863, RefSeq DNA:NT_010859, RefSeq Protein:NP_073751, RefSeq RNA:NM_022840, UniProtKB:Q8N3J2 No chr18 2537524 2571489 2537525 2571503 +PA142671461 29081 HGNC:25006 ENSG00000138382 methyltransferase 5, N6-adenosine METTL5 methyltransferase like 5 HSPC133 Yes No Comparative Toxicogenomics Database:29081, Ensembl:ENSG00000138382, GeneCard:METTL5, HGNC:HGNC:25006, HumanCyc Gene:HS06496, ModBase:Q9NRN9, NCBI Gene:29081, RefSeq DNA:NT_005403, RefSeq Protein:NP_054887, RefSeq RNA:NM_014168, UniProtKB:Q9NRN9 No chr2 170668267 170681439 169811757 169824931 +PA142671462 131965 HGNC:28343 ENSG00000206562 methyltransferase 6, tRNA N3-cytidine METTL6 methyltransferase like 6 MGC24132 Yes No Comparative Toxicogenomics Database:131965, Ensembl:ENSG00000206562, GeneCard:METTL6, HGNC:HGNC:28343, ModBase:Q8TCB7, NCBI Gene:131965, RefSeq DNA:NT_022517, RefSeq Protein:NP_689609, RefSeq RNA:NM_152396, UniProtKB:Q8TCB7 No chr3 15422782 15469054 15381275 15427580 +PA145008118 79828 HGNC:25856 ENSG00000123600 methyltransferase 8, tRNA N3-cytidine METTL8 methyltransferase like 8, tension-induced/inhibited protein FLJ13984, TIP Yes Yes Comparative Toxicogenomics Database:79828, Ensembl:ENSG00000123600, GeneCard:METTL8, HGNC:HGNC:25856, HumanCyc Gene:HS13098, NCBI Gene:79828, OMIM:609525, RefSeq DNA:NT_005403, RefSeq Protein:NP_079046, RefSeq RNA:NM_024770, UniProtKB:A8K7U3, UniProtKB:B3KW44 No chr2 172173912 172291312 171315746 171434803 +PA145148428 51108 HGNC:24586 ENSG00000197006 methyltransferase 9, His-X-His N1(pi)-histidine METTL9 DORA reverse strand protein 1, methyltransferase like 9 DREV1 Yes No Ensembl:ENSG00000197006, GeneCard:METTL9, HGNC:HGNC:24586, ModBase:Q9H1A3, NCBI Gene:51108, OMIM:609388, RefSeq DNA:NT_010393, RefSeq Protein:NP_001070648, RefSeq Protein:NP_057109, RefSeq RNA:NM_001077180, RefSeq RNA:NM_016025, UniProtKB:Q9H1A3 No chr16 21608543 21668792 21597221 21657473 +PA162395812 92312 HGNC:33482 ENSG00000254726 mex-3 RNA binding family member A MEX3A mex-3 homolog A (C. elegans) RKHD4, RNF162 Yes No Ensembl:ENSG00000254726, GeneCard:MEX3A, HGNC:HGNC:33482, ModBase:A1L020, NCBI Gene:92312, OMIM:611007, RefSeq DNA:NT_004487, RefSeq Protein:NP_001087194, RefSeq RNA:NM_001093725, UniProtKB:A1L020 No chr1 156041804 156051789 156072013 156081998 +PA162395820 84206 HGNC:25297 ENSG00000183496 mex-3 RNA binding family member B MEX3B mex-3 homolog B (C. elegans) DKFZp434J0617, RKHD3, RNF195 Yes No Ensembl:ENSG00000183496, GeneCard:MEX3B, HGNC:HGNC:25297, ModBase:Q6ZN04, NCBI Gene:84206, OMIM:611008, RefSeq DNA:NT_010194, RefSeq Protein:NP_115622, RefSeq RNA:NM_032246, UniProtKB:Q6ZN04 No chr15 82334119 82338484 82041778 82046143 +PA162395821 51320 HGNC:28040 ENSG00000176624 mex-3 RNA binding family member C MEX3C mex-3 homolog C (C. elegans) FLJ38871, RKHD2, RNF194 Yes Yes Ensembl:ENSG00000176624, GeneCard:MEX3C, HGNC:HGNC:28040, HumanCyc Gene:HS16697, ModBase:Q5U5Q3, NCBI Gene:51320, OMIM:611005, OMIM:611014, RefSeq DNA:NG_015801, RefSeq DNA:NT_010966, RefSeq Protein:NP_057710, RefSeq RNA:NM_016626, UniProtKB:Q5U5Q3 No chr18 48700920 48724051 51174550 51197681 +PA162395829 399664 HGNC:16734 ENSG00000181588 mex-3 RNA binding family member D MEX3D bcl-2 ARE RNA binding protein, mex-3 homolog D (C. elegans) KIAA2031, OK/SW-cl.4, RKHD1, RNF193, Tino Yes No Ensembl:ENSG00000181588, GeneCard:MEX3D, HGNC:HGNC:16734, ModBase:Q86XN8, NCBI Gene:399664, OMIM:611009, RefSeq DNA:NT_011255, RefSeq Protein:NP_001167589, RefSeq Protein:NP_976049, RefSeq RNA:NM_001174118, RefSeq RNA:NM_203304, UniProtKB:Q86XN8 No chr19 1554668 1568057 1554669 1568058 +PA30768 4236 HGNC:7032 ENSG00000140259 microfibril associated protein 1 MFAP1 microfibrillar-associated protein 1 AMP Yes No Ensembl:ENSG00000140259, GenAtlas:MFAP1, GeneCard:MFAP1, HGNC:HGNC:7032, HumanCyc Gene:HS06689, ModBase:P55081, NCBI Gene:4236, OMIM:600215, RefSeq DNA:NT_010194, RefSeq Protein:NP_005917, RefSeq RNA:NM_005926, UCSC Genome Browser:NM_005926, UniProtKB:P55081 No chr15 44096733 44116951 43804535 43824753 +PA30769 4237 HGNC:7033 ENSG00000117122 microfibril associated protein 2 MFAP2 microfibril-associated glycoprotein-1, microfibrillar-associated protein 2 MAGP, MAGP-1 Yes No Comparative Toxicogenomics Database:4237, Ensembl:ENSG00000117122, GenAtlas:MFAP2, GeneCard:MFAP2, HGNC:HGNC:7033, HumanCyc Gene:HS04096, NCBI Gene:4237, OMIM:156790, RefSeq DNA:NT_004610, RefSeq Protein:NP_001128719, RefSeq Protein:NP_001128720, RefSeq Protein:NP_002394, RefSeq Protein:NP_059453, RefSeq RNA:NM_001135247, RefSeq RNA:NM_001135248, RefSeq RNA:NM_002403, RefSeq RNA:NM_017459, UCSC Genome Browser:NM_002403, UniProtKB:P55001, UniProtKB:Q5JXY0 No chr1 17300997 17308081 16974502 16981649 +PA30770 4238 HGNC:7034 ENSG00000037749 microfibril associated protein 3 MFAP3 microfibrillar-associated protein 3 Yes No Comparative Toxicogenomics Database:4238, Ensembl:ENSG00000037749, GenAtlas:MFAP3, GeneCard:MFAP3, HGNC:HGNC:7034, HumanCyc Gene:HS00524, ModBase:P55082, NCBI Gene:4238, OMIM:600491, RefSeq DNA:NT_029289, RefSeq Protein:NP_001128509, RefSeq Protein:NP_001229265, RefSeq Protein:NP_005918, RefSeq RNA:NM_001135037, RefSeq RNA:NM_001242336, RefSeq RNA:NM_005927, RefSeq RNA:NR_024152, UCSC Genome Browser:NM_005927, UniProtKB:B4DKA1, UniProtKB:P55082 No chr5 153418519 153437014 154038959 154057454 +PA134974574 9848 HGNC:29083 ENSG00000198948 microfibril associated protein 3 like MFAP3L microfibrillar-associated protein 3-like KIAA0626, NYD-sp9 Yes No Ensembl:ENSG00000198948, GeneCard:MFAP3L, HGNC:HGNC:29083, ModBase:O75121, NCBI Gene:9848, RefSeq DNA:NT_016354, RefSeq Protein:NP_001009554, RefSeq Protein:NP_067679, RefSeq RNA:NM_001009554, RefSeq RNA:NM_021647, UniProtKB:O75121 No chr4 170907748 170948371 169986597 170033028 +PA30771 4239 HGNC:7035 ENSG00000166482 microfibril associated protein 4 MFAP4 microfibril-associated glycoprotein 4, microfibrillar-associated protein 4 Yes No Ensembl:ENSG00000166482, GenAtlas:MFAP4, GeneCard:MFAP4, HGNC:HGNC:7035, HumanCyc Gene:HS09405, ModBase:P55083, NCBI Gene:4239, OMIM:600596, RefSeq DNA:NT_010718, RefSeq Protein:NP_001185624, RefSeq Protein:NP_002395, RefSeq RNA:NM_001198695, RefSeq RNA:NM_002404, UCSC Genome Browser:NM_002404, UniProtKB:P55083 No chr17 19286755 19290532 19383442 19387219 +PA134915148 8076 HGNC:29673 ENSG00000197614 microfibril associated protein 5 MFAP5 microfibril-associated glycoprotein-2, microfibrillar associated protein 5 MAGP2, MP25 Yes No Comparative Toxicogenomics Database:8076, Ensembl:ENSG00000197614, GeneCard:MFAP5, HGNC:HGNC:29673, NCBI Gene:8076, OMIM:601103, RefSeq DNA:NT_009714, RefSeq Protein:NP_003471, RefSeq RNA:NM_003480, UniProtKB:B3KW70, UniProtKB:Q13361 No chr12 8798540 8815433 8645943 8662888 +PA162395839 56947 HGNC:24858 ENSG00000168958 mitochondrial fission factor MFF C2orf33, GL004 Yes No Ensembl:ENSG00000168958, GeneCard:MFF, HGNC:HGNC:24858, HumanCyc Gene:HS15735, ModBase:Q9GZY8, NCBI Gene:56947, RefSeq DNA:NT_005403, RefSeq Protein:NP_064579, RefSeq RNA:NM_020194, UniProtKB:Q9GZY8 No chr2 228189867 228222552 227325151 227357836 +PA30772 4240 HGNC:7036 ENSG00000140545 milk fat globule EGF and factor V/VIII domain containing MFGE8 lactadherin, milk fat globule-EGF factor 8 protein, sperm surface protein hP47 BA46, EDIL1, HsT19888, MFG-E8, OAcGD3S, SED1, SPAG10, hP47 Yes No Comparative Toxicogenomics Database:4240, Ensembl:ENSG00000140545, GenAtlas:MFGE8, GeneCard:MFGE8, HGNC:HGNC:7036, HumanCyc Gene:HS06737, ModBase:Q08431, NCBI Gene:4240, OMIM:602281, RefSeq DNA:NT_010274, RefSeq Protein:NP_001108086, RefSeq Protein:NP_005919, RefSeq RNA:NM_001114614, RefSeq RNA:NM_005928, UCSC Genome Browser:NM_005928, UniProtKB:Q08431, UniProtKB:Q9BTL9 No chr15 89441914 89456685 88898683 88913469 +PA30773 9258 HGNC:16982 ENSG00000147324 multifunctional ROCO family signaling regulator 1 MFHAS1 leucine rich repeat containing 65, malignant fibrous histiocytoma amplified sequence 1, malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1 LRRC65, MASL1, ROCO4 Yes No Comparative Toxicogenomics Database:9258, Ensembl:ENSG00000147324, GenAtlas:MFHAS1, GeneCard:MFHAS1, HGNC:HGNC:16982, HumanCyc Gene:HS07418, ModBase:Q9Y4C4, NCBI Gene:9258, OMIM:605352, RefSeq DNA:NG_009444, RefSeq DNA:NT_077531, RefSeq Protein:NP_004216, RefSeq RNA:NM_004225, UCSC Genome Browser:NM_004225, UniProtKB:Q9Y4C4 No chr8 8640864 8751131 8783354 8893621 +PA134945973 55669 HGNC:18262 ENSG00000171109 mitofusin 1 MFN1 FLJ20693 Yes No Ensembl:ENSG00000171109, GeneCard:MFN1, HGNC:HGNC:18262, HumanCyc Gene:HS10245, ModBase:Q8IWA4, NCBI Gene:55669, OMIM:608506, RefSeq DNA:NT_005612, RefSeq Protein:NP_284941, RefSeq RNA:NM_033540, UniProtKB:Q8IWA4 No chr3 179065480 179111014 179347692 179394944 +PA134986046 9927 HGNC:16877 ENSG00000116688 mitofusin 2 MFN2 CMT2A2, CPRP1, KIAA0214, MARF Yes No Comparative Toxicogenomics Database:9927, Ensembl:ENSG00000116688, GeneCard:MFN2, HGNC:HGNC:16877, HumanCyc Gene:HS12875, ModBase:O95140, NCBI Gene:9927, OMIM:601152, OMIM:608507, OMIM:609260, RefSeq DNA:NG_007945, RefSeq DNA:NT_021937, RefSeq Protein:NP_001121132, RefSeq Protein:NP_055689, RefSeq RNA:NM_001127660, RefSeq RNA:NM_014874, UniProtKB:O95140 No chr1 12040238 12073572 11980181 12013515 +PA30775 4242 HGNC:7038 ENSG00000100060 MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase MFNG Yes No Comparative Toxicogenomics Database:4242, Ensembl:ENSG00000100060, GenAtlas:MFNG, GeneCard:MFNG, HGNC:HGNC:7038, HumanCyc Gene:HS01965, ModBase:O00587, NCBI Gene:4242, OMIM:602577, RefSeq DNA:NT_011520, RefSeq Protein:NP_001159815, RefSeq Protein:NP_002396, RefSeq RNA:NM_001166343, RefSeq RNA:NM_002405, RefSeq RNA:NR_029413, UCSC Genome Browser:NM_002405, UniProtKB:B4DLT6, UniProtKB:O00587 No chr22 37865101 37882499 37469063 37486440 +PA30776 83552 HGNC:18121 ENSG00000235718 membrane frizzled-related protein MFRP C1q and TNF related 5, complement C1q tumor necrosis factor-related protein 5 precursor variant 1, membrane-type frizzled-related protein C1QTNF5, FLJ30570, NNO2, rd6 Yes No Comparative Toxicogenomics Database:83552, Ensembl:ENSG00000235718, GenAtlas:MFRP, GeneCard:MFRP, HGNC:HGNC:18121, ModBase:Q9BY79, NCBI Gene:83552, OMIM:606227, OMIM:609549, OMIM:611040, RefSeq DNA:NG_009626, RefSeq DNA:NG_012235, RefSeq DNA:NT_033899, RefSeq Protein:NP_113621, RefSeq RNA:NM_031433, UCSC Genome Browser:NM_031433, UniProtKB:Q9BXJ0, UniProtKB:Q9BY79 No chr11 119209644 119217383 119338934 119346673 +PA134947356 64747 HGNC:25874 ENSG00000118855 major facilitator superfamily domain containing 1 MFSD1 FLJ14153, Minerva, UG0581B09 Yes No Comparative Toxicogenomics Database:64747, Ensembl:ENSG00000118855, GeneCard:MFSD1, HGNC:HGNC:25874, HumanCyc Gene:HS04255, ModBase:Q9H3U5, NCBI Gene:64747, RefSeq DNA:NT_005612, RefSeq Protein:NP_001161375, RefSeq Protein:NP_073573, RefSeq RNA:NM_001167903, RefSeq RNA:NM_022736, UniProtKB:Q9H3U5 No chr3 158519051 158547508 158801870 158829719 +PA162395840 10227 HGNC:16894 ENSG00000109736 major facilitator superfamily domain containing 10 MFSD10 tetracycline transporter like protein IT10C3, TETRAN Yes No Ensembl:ENSG00000109736, GeneCard:MFSD10, HGNC:HGNC:16894, HumanCyc Gene:HS03252, ModBase:Q14728, NCBI Gene:10227, OMIM:610977, RefSeq DNA:NT_006051, RefSeq Protein:NP_001111, RefSeq Protein:NP_001139541, RefSeq RNA:NM_001120, RefSeq RNA:NM_001146069, UniProtKB:Q14728 No chr4 2932288 2936586 2930560 2934859 +PA162395841 79157 HGNC:25458 ENSG00000092931 major facilitator superfamily domain containing 11 MFSD11 FLJ20226, FLJ22196 Yes No Ensembl:ENSG00000092931, GeneCard:MFSD11, HGNC:HGNC:25458, HumanCyc Gene:HS01784, ModBase:O43934, NCBI Gene:79157, RefSeq DNA:NT_010783, RefSeq Protein:NP_001229461, RefSeq Protein:NP_001229462, RefSeq Protein:NP_001229463, RefSeq Protein:NP_001229464, RefSeq Protein:NP_001229465, RefSeq Protein:NP_001229466, RefSeq Protein:NP_077287, RefSeq RNA:NM_001242532, RefSeq RNA:NM_001242533, RefSeq RNA:NM_001242534, RefSeq RNA:NM_001242535, RefSeq RNA:NM_001242536, RefSeq RNA:NM_001242537, RefSeq RNA:NM_024311, UniProtKB:O43934 No chr17 74732647 74775336 76736565 76803805 +PA134955537 126321 HGNC:28299 ENSG00000161091 major facilitator superfamily domain containing 12 MFSD12 C19orf28, MGC20700, PP3501, SLC59B1 Yes No Ensembl:ENSG00000161091, GeneCard:C19orf28, HGNC:HGNC:28299, HumanCyc Gene:HS14851, ModBase:Q6NUT3, NCBI Gene:126321, RefSeq DNA:NT_011255, RefSeq Protein:NP_001036145, RefSeq Protein:NP_068377, RefSeq Protein:NP_778148, RefSeq RNA:NM_001042680, RefSeq RNA:NM_021731, RefSeq RNA:NM_174983, UniProtKB:A8MXP7, UniProtKB:Q6NUT3 No chr19 3538263 3557582 3538270 3557592 +PA162406011 79847 HGNC:26196 ENSG00000138111 major facilitator superfamily domain containing 13A MFSD13A transmembrane protein 180 C10orf77, FLJ22529, TMEM180, bA18I14.8 Yes No Ensembl:ENSG00000138111, GeneCard:TMEM180, HGNC:HGNC:26196, HumanCyc Gene:HS13712, ModBase:Q14CX5, NCBI Gene:79847, RefSeq DNA:NT_030059, RefSeq Protein:NP_079065, RefSeq RNA:NM_024789, UniProtKB:Q14CX5 No chr10 104221149 104239546 102460896 102480118 +PA134910737 64645 HGNC:23363 ENSG00000156875 major facilitator superfamily domain containing 14A MFSD14A hippocampus abundant transcript 1 DKFZP564L0864, HIAT1 Yes No Ensembl:ENSG00000156875, GeneCard:HIAT1, HGNC:HGNC:23363, HumanCyc Gene:HS08156, ModBase:Q96MC6, NCBI Gene:64645, RefSeq DNA:NT_032977, RefSeq Protein:NP_149044, RefSeq RNA:NM_033055, UniProtKB:Q96MC6 No chr1 100503670 100548933 100038078 100083377 +PA142671691 84641 HGNC:23376 ENSG00000148110 major facilitator superfamily domain containing 14B MFSD14B hippocampus abundant transcript-like 1 FLJ14753, HIATL1 Yes No Ensembl:ENSG00000148110, GeneCard:HIATL1, HGNC:HGNC:23376, HumanCyc Gene:HS07491, ModBase:Q5SR56, NCBI Gene:84641, RefSeq DNA:NT_008470, RefSeq Protein:NP_115947, RefSeq RNA:NM_032558, UniProtKB:Q5SR56 No chr9 97136833 97223202 94374327 94460920 +PA134993447 84278 HGNC:23672 ENSG00000196312 major facilitator superfamily domain containing 14C MFSD14C hippocampus abundant transcript-like 2 HIATL2, MGC12945 Yes No Ensembl:ENSG00000196312, GeneCard:HIATL2, HGNC:HGNC:23672, NCBI Gene:84278, RefSeq DNA:NT_008470, RefSeq RNA:NM_001355228 No chr9 99708327 99775862 96946045 97013580 +PA165751549 84879 HGNC:25897 ENSG00000168389 MFSD2 lysolipid transporter A, lysophospholipid MFSD2A major facilitator superfamily domain containing 2A, sodium-dependent LPC symporter 1, sodium-dependent lysophosphatidylcholine symporter 1 FLJ14490, MFSD2, SLC59A1 Yes No Comparative Toxicogenomics Database:84879, Ensembl:ENSG00000168389, GeneCard:MFSD2A, HGNC:HGNC:25897, ModBase:Q8NA29, NCBI Gene:84879, RefSeq DNA:NT_032977, RefSeq Protein:NP_001129965, RefSeq Protein:NP_116182, RefSeq RNA:NM_001136493, RefSeq RNA:NM_032793, UniProtKB:Q8NA29 No chr1 40420784 40435630 39955112 39969968 +PA165696804 388931 HGNC:37207 ENSG00000205639 MFSD2 lysolipid transporter B, sphingolipid MFSD2B S1P transporter, major facilitator superfamily domain containing 2B, sphingosine 1-phosphate transporter SLC59A2 Yes No Ensembl:ENSG00000205639, GeneCard:MFSD2B, HGNC:HGNC:37207, NCBI Gene:388931, RefSeq DNA:NT_022184, RefSeq Protein:NP_001073942, RefSeq RNA:NM_001080473, UniProtKB:A6NFX1 No chr2 24232953 24248698 24009022 24026775 +PA142671464 113655 HGNC:25157 ENSG00000167700 major facilitator superfamily domain containing 3 MFSD3 solute carrier family 33 member 2 SLC33A2 Yes No Ensembl:ENSG00000167700, GeneCard:MFSD3, HGNC:HGNC:25157, HumanCyc Gene:HS15589, ModBase:Q96ES6, NCBI Gene:113655, RefSeq DNA:NT_037704, RefSeq Protein:NP_612440, RefSeq RNA:NM_138431, UniProtKB:Q96ES6 No chr8 145733161 145736596 144508081 144511228 +PA142671465 148808 HGNC:25433 ENSG00000174514 major facilitator superfamily domain containing 4A MFSD4A major facilitator superfamily domain containing 4 DKFZp761N1114, FLJ25004, FLJ34577, MFSD4, SLC60A1, UNQ3064 Yes No Ensembl:ENSG00000174514, GeneCard:MFSD4, HGNC:HGNC:25433, ModBase:Q8N468, NCBI Gene:148808, RefSeq DNA:NT_004487, RefSeq Protein:NP_857595, RefSeq RNA:NM_181644, UniProtKB:Q8N468 No chr1 205538112 205572046 205568984 205602918 +PA128394744 91749 HGNC:21053 ENSG00000173214 major facilitator superfamily domain containing 4B MFSD4B KIAA1919, MFSD4B, MGC33953, SLC60A2 Yes No Ensembl:ENSG00000173214, GeneCard:KIAA1919, HGNC:HGNC:21053, HumanCyc Gene:HS16184, ModBase:Q5TF39, NCBI Gene:91749, RefSeq DNA:NT_025741, RefSeq Protein:NP_699200, RefSeq RNA:NM_153369, UCSC Genome Browser:NM_153369, UniProtKB:B3KSA1, UniProtKB:Q5TF39 No chr6 111580482 111590263 111259279 111280005 +PA142671466 84975 HGNC:28156 ENSG00000182544 major facilitator superfamily domain containing 5 MFSD5 HsMOT2, MGC11308, SLC61A1 Yes No Comparative Toxicogenomics Database:84975, Ensembl:ENSG00000182544, GeneCard:MFSD5, HGNC:HGNC:28156, ModBase:Q6N075, NCBI Gene:84975, RefSeq DNA:NT_029419, RefSeq Protein:NP_001164261, RefSeq Protein:NP_116278, RefSeq RNA:NM_001170790, RefSeq RNA:NM_032889, UniProtKB:Q6N075 No chr12 53645035 53648190 53251251 53254406 +PA164722278 54842 HGNC:24711 ENSG00000151690 major facilitator superfamily domain containing 6 MFSD6 FLJ20160 Yes No Ensembl:ENSG00000151690, GeneCard:MFSD6, HGNC:HGNC:24711, HumanCyc Gene:HS14381, ModBase:Q6ZSS7, NCBI Gene:54842, OMIM:613476, RefSeq DNA:NT_005403, RefSeq Protein:NP_060164, RefSeq RNA:NM_017694, UniProtKB:Q6ZSS7 No chr2 191273081 191367041 190408355 190502315 +PA164722299 162387 HGNC:26656 ENSG00000185156 major facilitator superfamily domain containing 6 like MFSD6L major facilitator superfamily domain containing 6-like FLJ35773 Yes No Ensembl:ENSG00000185156, GeneCard:MFSD6L, HGNC:HGNC:26656, ModBase:Q8IWD5, NCBI Gene:162387, RefSeq DNA:NT_010718, RefSeq Protein:NP_689812, RefSeq RNA:NM_152599, UniProtKB:Q8IWD5 No chr17 8700428 8702667 8797110 8799349 +PA162395842 256471 HGNC:28486 ENSG00000164073 major facilitator superfamily domain containing 8 MFSD8 CLN7, MGC33302 Yes No Ensembl:ENSG00000164073, GeneCard:MFSD8, HGNC:HGNC:28486, HumanCyc Gene:HS09000, ModBase:Q8NHS3, NCBI Gene:256471, OMIM:610951, OMIM:611124, RefSeq DNA:NG_008657, RefSeq DNA:NT_016354, RefSeq Protein:NP_689991, RefSeq RNA:NM_152778, UniProtKB:Q8NHS3 No chr4 128838960 128887185 127917805 127965984 +PA162395873 84804 HGNC:28158 ENSG00000135953 major facilitator superfamily domain containing 9 MFSD9 MGC11332 Yes No Ensembl:ENSG00000135953, GeneCard:MFSD9, HGNC:HGNC:28158, HumanCyc Gene:HS06093, ModBase:Q8NBP5, NCBI Gene:84804, RefSeq DNA:NT_022171, RefSeq Protein:NP_116107, RefSeq RNA:NM_032718, UniProtKB:Q8NBP5 No chr2 103331089 103353341 102713867 102736888 +PA134976336 23269 HGNC:14010 ENSG00000174197 MAX dimerization protein MGA MGA MGA, MAX dimerization protein FLJ12634, KIAA0518, MAD5, MXD5 Yes No Comparative Toxicogenomics Database:23269, Ensembl:ENSG00000174197, GeneCard:MGA, HGNC:HGNC:14010, NCBI Gene:23269, RefSeq DNA:NT_010194, RefSeq Protein:NP_001074010, RefSeq Protein:NP_001157745, RefSeq RNA:NM_001080541, RefSeq RNA:NM_001164273, UniProtKB:Q8IWI9 No chr15 41913432 42062141 41621139 41769943 +PA30778 8972 HGNC:7043 ENSG00000179087, ENSG00000257335 maltase-glucoamylase MGAM alpha-glucosidase, maltase-glucoamylase (alpha-glucosidase) MGA Yes No Ensembl:ENSG00000179087, Ensembl:ENSG00000257335, GenAtlas:MGAM, GeneCard:MGAM, HGNC:HGNC:7043, HumanCyc Gene:HS11348, NCBI Gene:8972, OMIM:154360, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_004659, RefSeq RNA:NM_004668, UCSC Genome Browser:NM_004668, UniProtKB:O43451 No chr7 141695676 141806547 141986517 142106747 +PA166181563 93432 HGNC:28101 ENSG00000257743 maltase-glucoamylase 2 (putative) MGAM2 Yes No Ensembl:ENSG00000257743, HGNC:HGNC:28101, NCBI Gene:93432 No 0 0 0 0 +PA164717327 84709 HGNC:29969 ENSG00000137463 mitochondria localized glutamic acid rich protein MGARP corneal endothelium-specific protein 1, hypoxia up-regulated mitochondrial movement regulator, mitochondria-localized glutamic acid-rich protein, ovary-specific acidic protein C4orf49, CESP-1, HUMMR, OSAP Yes No Ensembl:ENSG00000137463, GeneCard:C4orf49, HGNC:HGNC:29969, HumanCyc Gene:HS13683, NCBI Gene:84709, RefSeq DNA:NT_016354, RefSeq Protein:NP_116012, RefSeq RNA:NM_032623, UniProtKB:Q8TDB4 No chr4 140187317 140201492 139266163 139280338 +PA30779 4245 HGNC:7044 ENSG00000131446 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase MGAT1 """alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase"", ""mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase""" GLCNAC-TI, GLYT1, GNT-1, GnTI, MGAT Yes No Comparative Toxicogenomics Database:4245, Ensembl:ENSG00000131446, GenAtlas:MGAT1, GeneCard:MGAT1, HGNC:HGNC:7044, HumanCyc Gene:HS05528, ModBase:P26572, NCBI Gene:4245, OMIM:160995, RefSeq DNA:NT_023133, RefSeq Protein:NP_001108089, RefSeq Protein:NP_001108090, RefSeq Protein:NP_001108091, RefSeq Protein:NP_001108092, RefSeq Protein:NP_002397, RefSeq RNA:NM_001114617, RefSeq RNA:NM_001114618, RefSeq RNA:NM_001114619, RefSeq RNA:NM_001114620, RefSeq RNA:NM_002406, UCSC Genome Browser:NM_002406, UniProtKB:P26572 No chr5 180217541 180237939 180790541 180815652 +PA30780 4247 HGNC:7045 ENSG00000168282 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase GNT-II Yes No Comparative Toxicogenomics Database:4247, Ensembl:ENSG00000168282, GenAtlas:MGAT2, GeneCard:MGAT2, HGNC:HGNC:7045, HumanCyc Gene:HS09725, ModBase:Q10469, NCBI Gene:4247, OMIM:212066, OMIM:602616, RefSeq DNA:NG_008920, RefSeq DNA:NT_026437, RefSeq Protein:NP_002399, RefSeq RNA:NM_002408, UCSC Genome Browser:NM_002408, UniProtKB:Q10469 No chr14 50087460 50090199 49620771 49623481 +PA30781 4248 HGNC:7046 ENSG00000128268 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase MGAT3 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase GNT-III Yes No Comparative Toxicogenomics Database:4248, Ensembl:ENSG00000128268, GenAtlas:MGAT3, GeneCard:MGAT3, HGNC:HGNC:7046, HumanCyc Gene:HS05168, ModBase:Q09327, NCBI Gene:4248, OMIM:604621, RefSeq DNA:NT_011520, RefSeq Protein:NP_001091740, RefSeq Protein:NP_002400, RefSeq RNA:NM_001098270, RefSeq RNA:NM_002409, UCSC Genome Browser:NM_002409, UniProtKB:Q09327 No chr22 39843235 39888199 39447166 39492194 +PA30782 11320 HGNC:7047 ENSG00000071073 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A MGAT4A mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A GnT-4a, GnT-Iva Yes Yes Ensembl:ENSG00000071073, GenAtlas:MGAT4A, GeneCard:MGAT4A, HGNC:HGNC:7047, HumanCyc Gene:HS01024, ModBase:Q9UM21, NCBI Gene:11320, OMIM:604623, RefSeq DNA:NT_022171, RefSeq Protein:NP_001153626, RefSeq Protein:NP_036346, RefSeq RNA:NM_001160154, RefSeq RNA:NM_012214, UCSC Genome Browser:NM_012214, UniProtKB:B4E2R6, UniProtKB:Q9UM21 No chr2 99235569 99347589 98619106 98731126 +PA30783 11282 HGNC:7048 ENSG00000161013 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B GnT-Ivb Yes No Comparative Toxicogenomics Database:11282, Ensembl:ENSG00000161013, GenAtlas:MGAT4B, GeneCard:MGAT4B, HGNC:HGNC:7048, HumanCyc Gene:HS08564, ModBase:Q9UQ53, NCBI Gene:11282, OMIM:604561, RefSeq DNA:NT_023133, RefSeq Protein:NP_055090, RefSeq Protein:NP_463459, RefSeq RNA:NM_014275, RefSeq RNA:NM_054013, UCSC Genome Browser:NM_014275, UniProtKB:A8MPR0, UniProtKB:Q9UQ53 No chr5 179224597 179233952 179797597 179806952 +PA143485535 25834 HGNC:30871 ENSG00000182050 MGAT4 family member C MGAT4C """MGAT4 family, member C"", ""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)""" HGNT-IV-H Yes No Comparative Toxicogenomics Database:25834, Ensembl:ENSG00000182050, GeneCard:MGAT4C, HGNC:HGNC:30871, HumanCyc Gene:HS00017, ModBase:Q9UBM8, NCBI Gene:25834, OMIM:607385, RefSeq DNA:NT_029419, RefSeq Protein:NP_037376, RefSeq RNA:NM_013244, UniProtKB:Q9UBM8 No chr12 86373037 87232681 85972281 86838999 +PA166123703 152586 HGNC:43619 ENSG00000205301 MGAT4 family member D MGAT4D """GlcNAcT-I Inhibitory Protein"", ""MGAT4 family, member D"", ""glycosyltransferase 54 domain containing 1"", ""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase family, member D""" GnT1IP Yes No Ensembl:ENSG00000205301, HGNC:HGNC:43619, NCBI Gene:152586 No +PA30784 4249 HGNC:7049 ENSG00000152127 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase MGAT5 """alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A"", ""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase""" GNT-V, MGAT5A Yes Yes Comparative Toxicogenomics Database:4249, Ensembl:ENSG00000152127, GenAtlas:MGAT5, GeneCard:MGAT5, HGNC:HGNC:7049, HumanCyc Gene:HS07793, ModBase:Q09328, NCBI Gene:4249, OMIM:601774, RefSeq DNA:NT_022135, RefSeq Protein:NP_002401, RefSeq RNA:NM_002410, RefSeq RNA:NR_024275, UCSC Genome Browser:NM_002410, UniProtKB:Q09328 No chr2 134877502 135212192 134119922 134454621 +PA134987427 146664 HGNC:24140 ENSG00000167889 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B FLJ25132, GnT-IX, GnT-VB Yes No Ensembl:ENSG00000167889, GeneCard:MGAT5B, HGNC:HGNC:24140, NCBI Gene:146664, OMIM:612441, RefSeq DNA:NT_010783, RefSeq Protein:NP_001186101, RefSeq Protein:NP_653278, RefSeq Protein:NP_945193, RefSeq RNA:NM_001199172, RefSeq RNA:NM_144677, RefSeq RNA:NM_198955, UniProtKB:Q3V5L5 No chr17 74864798 74946472 76868487 76950389 +PA30789 11343 HGNC:17038 ENSG00000074416 monoglyceride lipase MGLL monoacylglycerol lipase HU-K5, MAGL, MGL Yes No Comparative Toxicogenomics Database:11343, Ensembl:ENSG00000074416, GenAtlas:MGLL, GeneCard:MGLL, HGNC:HGNC:17038, HumanCyc Gene:HS01140, ModBase:Q99685, NCBI Gene:11343, OMIM:609699, RefSeq DNA:NT_005612, RefSeq Protein:NP_001003794, RefSeq Protein:NP_009214, RefSeq RNA:NM_001003794, RefSeq RNA:NM_007283, UCSC Genome Browser:NM_007283, UniProtKB:B3KRC2, UniProtKB:Q6IBG9, UniProtKB:Q99685 No chr3 127407905 127542093 127689062 127823250 +PA25783 92667 HGNC:16205 ENSG00000125871 mitochondrial genome maintenance exonuclease 1 MGME1 C20orf72, DDK1, bA504H3.4 Yes No Ensembl:ENSG00000125871, GenAtlas:C20orf72, GeneCard:C20orf72, HGNC:HGNC:16205, HumanCyc Gene:HS13181, ModBase:Q9BQP7, NCBI Gene:92667, RefSeq DNA:NT_011387, RefSeq Protein:NP_443097, RefSeq RNA:NM_052865, UCSC Genome Browser:NM_052865, UniProtKB:Q9BQP7 No chr20 17949534 17971765 17968594 17991122 +PA239 4255 HGNC:7059 ENSG00000170430 O-6-methylguanine-DNA methyltransferase MGMT methylated-DNA--protein-cysteine methyltransferase Yes Yes Comparative Toxicogenomics Database:4255, Ensembl:ENSG00000170430, GenAtlas:MGMT, GeneCard:MGMT, HGNC:HGNC:7059, HumanCyc Gene:HS10127, ModBase:P16455, NCBI Gene:4255, OMIM:156569, RefSeq DNA:NT_008818, RefSeq Protein:NP_002403, RefSeq RNA:NM_002412, UCSC Genome Browser:NM_002412, UniProtKB:B4DEE8 No chr10 131265454 131565783 129467184 129770983 +PA30790 4256 HGNC:7060 ENSG00000111341 matrix Gla protein MGP Yes No Comparative Toxicogenomics Database:4256, Ensembl:ENSG00000111341, GenAtlas:MGP, GeneCard:MGP, HGNC:HGNC:7060, HumanCyc Gene:HS03407, ModBase:P08493, NCBI Gene:4256, OMIM:154870, OMIM:245150, RefSeq DNA:NG_023331, RefSeq DNA:NT_009714, RefSeq Protein:NP_000891, RefSeq Protein:NP_001177768, RefSeq RNA:NM_000900, RefSeq RNA:NM_001190839, UCSC Genome Browser:NM_000900, UniProtKB:P08493 No chr12 15034115 15038853 14881181 14885919 +PA134941221 23295 HGNC:20254 ENSG00000102858 mahogunin ring finger 1 MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase KIAA0544, RNF156 Yes No Comparative Toxicogenomics Database:23295, Ensembl:ENSG00000102858, GeneCard:MGRN1, HGNC:HGNC:20254, HumanCyc Gene:HS12495, ModBase:O60291, NCBI Gene:23295, OMIM:607559, RefSeq DNA:NT_010393, RefSeq Protein:NP_001135761, RefSeq Protein:NP_001135762, RefSeq Protein:NP_001135763, RefSeq Protein:NP_056061, RefSeq RNA:NM_001142289, RefSeq RNA:NM_001142290, RefSeq RNA:NM_001142291, RefSeq RNA:NM_015246, UniProtKB:O60291 No chr16 4674825 4740975 4616493 4690974 +PA30791 4257 HGNC:7061 ENSG00000008394 microsomal glutathione S-transferase 1 MGST1 peritoneal metastasis associated long noncoding RNA GST12, MGST-I, PMAN Yes No Comparative Toxicogenomics Database:4257, Ensembl:ENSG00000008394, GenAtlas:MGST1, GeneCard:MGST1, HGNC:HGNC:7061, HumanCyc Gene:HS00245, ModBase:P10620, NCBI Gene:4257, OMIM:138330, RefSeq DNA:NT_009714, RefSeq Protein:NP_064696, RefSeq Protein:NP_665707, RefSeq Protein:NP_665734, RefSeq Protein:NP_665735, RefSeq RNA:NM_020300, RefSeq RNA:NM_145764, RefSeq RNA:NM_145791, RefSeq RNA:NM_145792, UCSC Genome Browser:NM_020300, UniProtKB:P10620 No chr12 16500076 16530123 16347142 16377189 +PA30792 4258 HGNC:7063 ENSG00000085871 microsomal glutathione S-transferase 2 MGST2 MGST-II Yes No Comparative Toxicogenomics Database:4258, Ensembl:ENSG00000085871, GenAtlas:MGST2, GeneCard:MGST2, HGNC:HGNC:7063, HumanCyc Gene:HS01512, ModBase:Q99735, NCBI Gene:4258, OMIM:601733, RefSeq DNA:NT_016354, RefSeq Protein:NP_001191295, RefSeq Protein:NP_001191296, RefSeq Protein:NP_001191297, RefSeq Protein:NP_002404, RefSeq RNA:NM_001204366, RefSeq RNA:NM_001204367, RefSeq RNA:NM_001204368, RefSeq RNA:NM_002413, UCSC Genome Browser:NM_002413, UniProtKB:Q99735 No chr4 140586922 140661899 139665725 139754546 +PA30793 4259 HGNC:7064 ENSG00000143198 microsomal glutathione S-transferase 3 MGST3 microsomal GST-3, microsomal GST-III, microsomal glutathione S-transferase III GST-III Yes No Comparative Toxicogenomics Database:4259, Ensembl:ENSG00000143198, GenAtlas:MGST3, GeneCard:MGST3, HGNC:HGNC:7064, HumanCyc Gene:HS07009, ModBase:O14880, NCBI Gene:4259, OMIM:604564, RefSeq DNA:NT_004487, RefSeq Protein:NP_004519, RefSeq RNA:NM_004528, UCSC Genome Browser:NM_004528, UniProtKB:O14880 No chr1 165600110 165625373 165630873 165656136 +PA30800 8190 HGNC:7076 ENSG00000261857 MIA SH3 domain containing MIA melanoma inhibitory activity CD-RAP, MIA1 Yes No Comparative Toxicogenomics Database:8190, Ensembl:ENSG00000261857, GenAtlas:MIA, GeneCard:MIA, HGNC:HGNC:7076, HumanCyc Gene:HS02706, ModBase:Q16674, NCBI Gene:8190, OMIM:601340, RefSeq DNA:NT_011109, RefSeq Protein:NP_001189482, RefSeq Protein:NP_006524, RefSeq RNA:NM_001202553, RefSeq RNA:NM_006533, UCSC Genome Browser:NM_006533, UniProtKB:Q16674 No chr19 41281082 41283398 40775177 40777493 +PA134870998 4253 HGNC:18432 ENSG00000150527 MIA SH3 domain ER export factor 2 MIA2 TANGO1-like, melanoma inhibitory activity 2 CTAGE5, FLJ22404, MEA6, MGEA, MGEA11, MGEA6, TALI, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D Yes No Ensembl:ENSG00000150527, GeneCard:MIA2, HGNC:HGNC:18432, HumanCyc Gene:HS15314, ModBase:Q96PC5, NCBI Gene:4253, OMIM:608001, RefSeq DNA:NT_026437, RefSeq Protein:NP_473365, RefSeq RNA:NM_054024, UniProtKB:A1L4H0, UniProtKB:Q96PC5 No chr14 39734476 39820397 39265264 39351193 +PA143485536 375056 HGNC:24008 ENSG00000154305 MIA SH3 domain ER export factor 3 MIA3 """C219 reactive peptide"", ""melanoma inhibitory activity family, member 3"", ""transport and golgi organization""" FLJ39207, KIAA0268, TANGO, TANGO1, UNQ6077 Yes Yes Ensembl:ENSG00000154305, GeneCard:MIA3, HGNC:HGNC:24008, ModBase:Q92580, NCBI Gene:375056, OMIM:613455, RefSeq DNA:NT_167186, RefSeq Protein:NP_940953, RefSeq RNA:NM_198551, UniProtKB:Q5JRA6 No chr1 222791444 222841351 222617790 222668012 +PA162395890 440823 HGNC:33425 ENSG00000225783 myocardial infarction associated transcript (non-protein coding) MIAT long intergenic non-protein coding RNA 66, non-protein coding RNA 66 FLJ25967, LINC00066, NCRNA00066, Rncr2, gomafu Yes No Ensembl:ENSG00000225783, GeneCard:MIAT, HGNC:HGNC:33425, NCBI Gene:440823, OMIM:611082, RefSeq DNA:NG_016621, RefSeq DNA:NT_011520, RefSeq RNA:NR_003491, RefSeq RNA:NR_033319, RefSeq RNA:NR_033320, RefSeq RNA:NR_033321 No chr22 27053446 27072441 26657482 26676478 +PA134862722 57534 HGNC:21086 ENSG00000101752 MIB E3 ubiquitin protein ligase 1 MIB1 DAPK-interacting protein 1, mindbomb E3 ubiquitin protein ligase 1 DIP-1, KIAA1323, MIB, ZZANK2, ZZZ6 Yes No Comparative Toxicogenomics Database:57534, Ensembl:ENSG00000101752, GeneCard:MIB1, HGNC:HGNC:21086, ModBase:Q9P2M3, NCBI Gene:57534, OMIM:608677, RefSeq DNA:NT_010966, RefSeq Protein:NP_065825, RefSeq RNA:NM_020774, UniProtKB:Q86YT6 No chr18 19321290 19450918 21740793 21870957 +PA134924284 142678 HGNC:30577 ENSG00000197530 MIB E3 ubiquitin protein ligase 2 MIB2 mindbomb E3 ubiquitin protein ligase 2 FLJ39787, ZZANK1, ZZZ5, skeletrophin Yes No Ensembl:ENSG00000197530, GeneCard:MIB2, HGNC:HGNC:30577, NCBI Gene:142678, OMIM:611141, RefSeq DNA:NT_004350, RefSeq Protein:NP_001164157, RefSeq Protein:NP_001164158, RefSeq Protein:NP_001164159, RefSeq Protein:NP_001164160, RefSeq Protein:NP_543151, RefSeq RNA:NM_001170686, RefSeq RNA:NM_001170687, RefSeq RNA:NM_001170688, RefSeq RNA:NM_001170689, RefSeq RNA:NM_080875, RefSeq RNA:NR_033183, UniProtKB:B3KXY1, UniProtKB:B4DZ57, UniProtKB:Q96AX9 No chr1 1550795 1565990 1615188 1630610 +PA30811 100507436 HGNC:7090 ENSG00000183214, ENSG00000204520, ENSG00000231225, ENSG00000233051 MHC class I polypeptide-related sequence A MICA PERB11.1 Yes Yes Comparative Toxicogenomics Database:4276, Ensembl:ENSG00000183214, Ensembl:ENSG00000204520, Ensembl:ENSG00000231225, Ensembl:ENSG00000233051, GenAtlas:MICA, GeneCard:MICA, HGNC:HGNC:7090, ModBase:Q9TQL1, NCBI Gene:100507436, OMIM:600169, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_000238, RefSeq Protein:NP_001170990, RefSeq RNA:NM_000247, RefSeq RNA:NM_001177519, RefSeq RNA:NR_036523, RefSeq RNA:NR_036524, UCSC Genome Browser:NM_000247, UniProtKB:Q29983, UniProtKB:Q96QC4 No chr6 31367561 31383090 31399784 31415315 +PA134900249 64780 HGNC:20619 ENSG00000135596 microtubule associated monooxygenase, calponin and LIM domain containing 1 MICAL1 protein-methionine sulfoxide oxidase MICAL1 DKFZp434B1517, FLJ11937, FLJ21739, MICAL, NICAL Yes No Comparative Toxicogenomics Database:64780, Ensembl:ENSG00000135596, GeneCard:MICAL1, HGNC:HGNC:20619, HumanCyc Gene:HS06032, ModBase:Q8TDZ2, NCBI Gene:64780, OMIM:607129, RefSeq DNA:NT_025741, RefSeq Protein:NP_001152763, RefSeq Protein:NP_073602, RefSeq RNA:NM_001159291, RefSeq RNA:NM_022765, UniProtKB:Q8TDZ2 No chr6 109765265 109787171 109444062 109465968 +PA142671453 9645 HGNC:24693 ENSG00000133816 microtubule associated monooxygenase, calponin and LIM domain containing 2 MICAL2 FLJ14966, KIAA0750, MICALCL Yes No Comparative Toxicogenomics Database:9645, Ensembl:ENSG00000133816, GeneCard:MICAL2, HGNC:HGNC:24693, HumanCyc Gene:HS05790, ModBase:O94851, NCBI Gene:9645, OMIM:608881, RefSeq DNA:NT_009237, RefSeq Protein:NP_055447, RefSeq RNA:NM_014632, UniProtKB:O94851 No chr11 12132138 12285335 12110576 12281017 +PA142671454 57553 HGNC:24694 ENSG00000243156 microtubule associated monooxygenase, calponin and LIM domain containing 3 MICAL3 KIAA0819 Yes No Comparative Toxicogenomics Database:57553, Ensembl:ENSG00000243156, GeneCard:MICAL3, HGNC:HGNC:24694, ModBase:Q7RTP6, NCBI Gene:57553, OMIM:608882, RefSeq DNA:NT_011519, RefSeq Protein:NP_001116203, RefSeq Protein:NP_001129476, RefSeq Protein:NP_056056, RefSeq RNA:NM_001122731, RefSeq RNA:NM_001136004, RefSeq RNA:NM_015241, UniProtKB:Q5U4P4, UniProtKB:Q7RTP6 No chr22 18270415 18507325 17787649 18024559 +PA162395891 85377 HGNC:29804 ENSG00000100139 MICAL like 1 MICALL1 MICAL-like 1, molecule interacting with Rab13 KIAA1668, MICAL-L1, MIRAB13 Yes No Ensembl:ENSG00000100139, GeneCard:MICALL1, HGNC:HGNC:29804, ModBase:Q9UH45, NCBI Gene:85377, RefSeq DNA:NT_011520, RefSeq Protein:NP_203744, RefSeq RNA:NM_033386, UniProtKB:Q8N3F8 No chr22 38302155 38338465 37906148 37942458 +PA162395928 79778 HGNC:29672 ENSG00000164877 MICAL like 2 MICALL2 MICAL-like 2, junctional Rab13-binding protein FLJ23471, JRAB, MGC46023, MICAL-L2 Yes No Ensembl:ENSG00000164877, GeneCard:MICALL2, HGNC:HGNC:29672, HumanCyc Gene:HS15249, ModBase:Q8IY33, NCBI Gene:79778, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_891554, RefSeq RNA:NM_182924, UniProtKB:Q8IY33 No chr7 1473995 1499138 1433639 1459497 +PA30812 4277 HGNC:7091 ENSG00000204516, ENSG00000231179 MHC class I polypeptide-related sequence B MICB PERB11.2 Yes Yes Ensembl:ENSG00000204516, Ensembl:ENSG00000231179, GenAtlas:MICB, GeneCard:MICB, HGNC:HGNC:7091, HumanCyc Gene:HS06312, ModBase:Q9MY18, NCBI Gene:4277, OMIM:602436, RefSeq DNA:NG_021405, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_005922, RefSeq RNA:NM_005931, UCSC Genome Browser:NM_005931, UniProtKB:Q29980 No chr6 31462054 31478901 31494881 31511124 +PA30813 100129192 HGNC:7092 ENSG00000226577 MHC class I polypeptide-related sequence C (pseudogene) MICC PERB11.3 Yes No Ensembl:ENSG00000226577, GenAtlas:MICC, GeneCard:MICC, HGNC:HGNC:7092, NCBI Gene:100129192, RefSeq DNA:NG_002727, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 30382490 30387543 30414713 30419766 +PA30814 4279 HGNC:7093 ENSG00000229390 MHC class I polypeptide-related sequence D (pseudogene) MICD PERB11.4 Yes No Ensembl:ENSG00000229390, GenAtlas:MICD, GeneCard:MICD, HGNC:HGNC:7093, NCBI Gene:4279, RefSeq DNA:NG_002398, RefSeq DNA:NG_015983, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29938149 29943522 29970372 29975745 +PA30815 4280 HGNC:7094 ENSG00000273340 MHC class I polypeptide-related sequence E (pseudogene) MICE PERB11.5, dJ377H14.7 Yes No Ensembl:ENSG00000273340, GenAtlas:MICE, GeneCard:MICE, HGNC:HGNC:7094, NCBI Gene:4280, RefSeq DNA:NG_002916, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29709234 29716880 29741457 29749103 +PA134910766 352957 HGNC:16801 MHC class I polypeptide-related sequence F (pseudogene) MICF Yes No GeneCard:MICF, HGNC:HGNC:16801, NCBI Gene:352957, RefSeq DNA:NG_002398, RefSeq DNA:NG_015984, RefSeq DNA:NT_113891 No chr6 29819964 29821829 29852187 29854052 +PA134877871 352967 HGNC:16802 ENSG00000237042 MHC class I polypeptide-related sequence G (pseudogene) MICG Yes No Ensembl:ENSG00000237042, GeneCard:MICG, HGNC:HGNC:16802, NCBI Gene:352967, RefSeq DNA:NG_002733, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29780167 29780469 29812390 29812692 +PA142672468 440574 HGNC:32068 ENSG00000173436 mitochondrial contact site and cristae organizing system subunit 10 MICOS10 mitochondrial inner membrane organizing system 1 C1orf151, FLJ36999, MINOS1, MIO10, Mic10, RP5-1056L3.2 Yes No Ensembl:ENSG00000173436, GeneCard:C1orf151, HGNC:HGNC:32068, NCBI Gene:440574, RefSeq DNA:NT_004610, RefSeq Protein:NP_001027535, RefSeq Protein:NP_001191011, RefSeq Protein:NP_001191012, RefSeq RNA:NM_001032363, RefSeq RNA:NM_001204082, RefSeq RNA:NM_001204083, RefSeq RNA:NR_033757, RefSeq RNA:NR_033758, UniProtKB:Q5TGZ0 No chr1 19923471 19956315 19596977 19629821 +PA162378863 125988 HGNC:33702 ENSG00000174917 mitochondrial contact site and cristae organizing system subunit 13 MICOS13 chromosome 19 open reading frame 70 C19orf70, MIC12, MIC13, P117, QIL1 Yes No Ensembl:ENSG00000174917, GeneCard:C19orf70, HGNC:HGNC:33702, NCBI Gene:125988, RefSeq DNA:NT_011255, RefSeq Protein:NP_991330, RefSeq RNA:NM_205767, UniProtKB:Q5XKP0 No chr19 5678425 5680911 5678414 5680896 +PA26110 10367 HGNC:1530 ENSG00000107745 mitochondrial calcium uptake 1 MICU1 CALC, CBARA1, EFHA3, FLJ12684 Yes No Ensembl:ENSG00000107745, GenAtlas:CBARA1, GeneCard:CBARA1, HGNC:HGNC:1530, HumanCyc Gene:HS03022, ModBase:Q9BPX6, NCBI Gene:10367, OMIM:605084, RefSeq DNA:NT_030059, RefSeq Protein:NP_001182447, RefSeq Protein:NP_001182448, RefSeq Protein:NP_006068, RefSeq RNA:NM_001195518, RefSeq RNA:NM_001195519, RefSeq RNA:NM_006077, UCSC Genome Browser:NM_006077, UniProtKB:Q9BPX6 No chr10 74127084 74385949 72367326 72626191 +PA134891566 221154 HGNC:31830 ENSG00000165487 mitochondrial calcium uptake 2 MICU2 EFHA1 Yes No Comparative Toxicogenomics Database:221154, Ensembl:ENSG00000165487, GeneCard:EFHA1, HGNC:HGNC:31830, HumanCyc Gene:HS09238, ModBase:Q8IYU8, NCBI Gene:221154, OMIM:610632, RefSeq DNA:NT_024524, RefSeq Protein:NP_689939, RefSeq RNA:NM_152726, UniProtKB:Q8IYU8 No chr13 22066828 22178355 21492689 21604216 +PA134953154 286097 HGNC:27820 ENSG00000155970 mitochondrial calcium uptake family member 3 MICU3 mitochondrial calcium uptake family, member 3 DKFZp313A0139, EFHA2 Yes No Ensembl:ENSG00000155970, GeneCard:EFHA2, HGNC:HGNC:27820, ModBase:Q86XE3, NCBI Gene:286097, OMIM:610633, RefSeq DNA:NT_167187, RefSeq Protein:NP_859074, RefSeq RNA:NM_181723, UniProtKB:Q86XE3 No chr8 16884747 16980148 17027238 17133069 +PA30816 4281 HGNC:7095 ENSG00000101871 midline 1 MID1 Opitz/BBB syndrome, midline 1 (Opitz/BBB syndrome) FXY, OS, RNF59, TRIM18 Yes No Comparative Toxicogenomics Database:4281, Ensembl:ENSG00000101871, GenAtlas:MID1, GeneCard:MID1, HGNC:HGNC:7095, HumanCyc Gene:HS02311, ModBase:O15344, NCBI Gene:4281, OMIM:300000, OMIM:300552, RefSeq DNA:NG_008197, RefSeq DNA:NT_167197, RefSeq Protein:NP_000372, RefSeq Protein:NP_001092094, RefSeq Protein:NP_001180206, RefSeq Protein:NP_001180207, RefSeq Protein:NP_001180208, RefSeq Protein:NP_001180209, RefSeq Protein:NP_001180210, RefSeq Protein:NP_150631, RefSeq Protein:NP_150632, RefSeq RNA:NM_000381, RefSeq RNA:NM_001098624, RefSeq RNA:NM_001193277, RefSeq RNA:NM_001193278, RefSeq RNA:NM_001193279, RefSeq RNA:NM_001193280, RefSeq RNA:NM_001193281, RefSeq RNA:NM_033289, RefSeq RNA:NM_033290, UCSC Genome Browser:NM_000381, UniProtKB:O15344 No chrX 10413350 10851829 10445310 11111264 +PA134941916 58526 HGNC:20715 ENSG00000165175 MID1 interacting protein 1 MID1IP1 gastrulation specific G12 homolog (zebrafish) FLJ10386, G12-like, MIG12, STRAIT11499, THRSPL Yes No Comparative Toxicogenomics Database:58526, Ensembl:ENSG00000165175, GeneCard:MID1IP1, HGNC:HGNC:20715, HumanCyc Gene:HS15296, ModBase:Q9NPA3, NCBI Gene:58526, RefSeq DNA:NT_079573, RefSeq Protein:NP_001092260, RefSeq Protein:NP_001092261, RefSeq Protein:NP_067065, RefSeq RNA:NM_001098790, RefSeq RNA:NM_001098791, RefSeq RNA:NM_021242, UniProtKB:Q9NPA3 No chrX 38660685 38665785 38801432 38806532 +PA30817 11043 HGNC:7096 ENSG00000080561 midline 2 MID2 FXY2, MRX101, RNF60, TRIM1 Yes No Ensembl:ENSG00000080561, GenAtlas:MID2, GeneCard:MID2, HGNC:HGNC:7096, HumanCyc Gene:HS01360, ModBase:Q9UJV3, NCBI Gene:11043, OMIM:300204, RefSeq DNA:NG_011907, RefSeq DNA:NT_011651, RefSeq Protein:NP_036348, RefSeq Protein:NP_438112, RefSeq RNA:NM_012216, RefSeq RNA:NM_052817, UCSC Genome Browser:NM_012216, UniProtKB:Q9UJV3 No chrX 107068889 107174867 107820961 107931637 +PA166351967 91748 HGNC:19853 mitotic deacetylase associated SANT domain protein MIDEAS C14orf117, C14orf43, ELMSAN1, LSR68 Yes No HGNC:HGNC:19853, NCBI Gene:91748 No 0 0 0 0 +PA30818 90007 HGNC:16298 ENSG00000167470 midnolin MIDN stuxnet homolog (Drosophila) Stx Yes No Comparative Toxicogenomics Database:90007, Ensembl:ENSG00000167470, GenAtlas:MIDN, GeneCard:MIDN, HGNC:HGNC:16298, NCBI Gene:90007, OMIM:606700, RefSeq DNA:NT_011255, RefSeq Protein:NP_796375, RefSeq RNA:NM_177401, UniProtKB:Q504T8 No chr19 1248552 1259142 1248552 1259143 +PA145148068 54471 HGNC:25979 ENSG00000100335 mitochondrial elongation factor 1 MIEF1 """DANGER family member 3A"", ""MIEF1 upstream open reading frame protein"", ""Smith-Magenis syndrome chromosome region, candidate 7-like""" D3A, FLJ20232, L0R8F8, MiD51, SMCR7L Yes No Ensembl:ENSG00000100335, GeneCard:SMCR7L, HGNC:HGNC:25979, HumanCyc Gene:HS12402, ModBase:Q9NQG6, NCBI Gene:54471, RefSeq DNA:NT_011520, RefSeq Protein:NP_061881, RefSeq RNA:NM_019008, UniProtKB:Q7L890, UniProtKB:Q9NQG6 No chr22 39898197 39914139 39500100 39518134 +PA38265 125170 HGNC:17920 ENSG00000177427 mitochondrial elongation factor 2 MIEF2 """DANGER family member 3B"", ""Smith-Magenis syndrome chromosome region, candidate 7""" D3B, MGC23130, MiD49, SMCR7 Yes Yes Ensembl:ENSG00000177427, GenAtlas:SMCR7, GeneCard:SMCR7, HGNC:HGNC:17920, HumanCyc Gene:HS16853, ModBase:Q96C03, NCBI Gene:125170, RefSeq DNA:NT_010718, RefSeq Protein:NP_001138372, RefSeq Protein:NP_631901, RefSeq Protein:NP_683684, RefSeq RNA:NM_001144900, RefSeq RNA:NM_139162, RefSeq RNA:NM_148886, UCSC Genome Browser:NM_139162, UniProtKB:Q96C03 No chr17 18163848 18169095 18260534 18265790 +PA134947080 84299 HGNC:28230 ENSG00000141741 migration and invasion enhancer 1 MIEN1 C17orf37, C35, MGC14832, ORB3, Rdx12, XTP4 Yes No Ensembl:ENSG00000141741, GeneCard:C17orf37, HGNC:HGNC:28230, HumanCyc Gene:HS13908, ModBase:Q9BRT3, NCBI Gene:84299, OMIM:611802, RefSeq DNA:NT_010783, RefSeq Protein:NP_115715, RefSeq RNA:NM_032339, UniProtKB:Q9BRT3 No chr17 37885409 37886792 39728500 39730563 +PA142671456 57708 HGNC:29657 ENSG00000198160 MIER1 transcriptional regulator MIER1 """mesoderm induction early response 1 homolog (Xenopus laevis)"", ""mesoderm induction early response 1, transcriptional regulator""" KIAA1610, MI-ER1, hMI-ER1 Yes No Ensembl:ENSG00000198160, GeneCard:MIER1, HGNC:HGNC:29657, ModBase:Q8NES5, NCBI Gene:57708, RefSeq DNA:NT_032977, RefSeq Protein:NP_001071168, RefSeq Protein:NP_001071169, RefSeq Protein:NP_001071170, RefSeq Protein:NP_001071171, RefSeq Protein:NP_001071172, RefSeq Protein:NP_001139582, RefSeq Protein:NP_001139583, RefSeq Protein:NP_001139584, RefSeq Protein:NP_001139585, RefSeq Protein:NP_065999, RefSeq RNA:NM_001077700, RefSeq RNA:NM_001077701, RefSeq RNA:NM_001077702, RefSeq RNA:NM_001077703, RefSeq RNA:NM_001077704, RefSeq RNA:NM_001146110, RefSeq RNA:NM_001146111, RefSeq RNA:NM_001146112, RefSeq RNA:NM_001146113, RefSeq RNA:NM_020948, UniProtKB:Q08AE0, UniProtKB:Q32NC4, UniProtKB:Q5TAD2, UniProtKB:Q5TAD4, UniProtKB:Q5TAD5, UniProtKB:Q8N108 No chr1 67390578 67454302 66924895 66988619 +PA134925804 54531 HGNC:29210 ENSG00000105556 MIER family member 2 MIER2 mesoderm induction early response 1, family member 2 KIAA1193 Yes No Comparative Toxicogenomics Database:54531, Ensembl:ENSG00000105556, GeneCard:MIER2, HGNC:HGNC:29210, ModBase:Q8N344, NCBI Gene:54531, RefSeq DNA:NT_011255, RefSeq Protein:NP_060020, RefSeq RNA:NM_017550, UniProtKB:Q8N344 No chr19 305575 344791 305573 344793 +PA145008088 166968 HGNC:26678 ENSG00000155545 MIER family member 3 MIER3 mesoderm induction early response 1, family member 3 DKFZp686L09111, DKFZp781I1119, FLJ35954 Yes No Ensembl:ENSG00000155545, GeneCard:MIER3, HGNC:HGNC:26678, HumanCyc Gene:HS08058, NCBI Gene:166968, RefSeq DNA:NT_006713, RefSeq Protein:NP_689835, RefSeq RNA:NM_152622, UniProtKB:Q7Z3K6 No chr5 56215429 56247957 56919602 56952130 +PA30819 4282 HGNC:7097 ENSG00000240972 macrophage migration inhibitory factor MIF glycosylation-inhibiting factor, macrophage migration inhibitory factor (glycosylation-inhibiting factor), phenylpyruvate tautomerase GIF, GLIF Yes No Comparative Toxicogenomics Database:4282, Ensembl:ENSG00000240972, GenAtlas:MIF, GeneCard:MIF, HGNC:HGNC:7097, HumanCyc Gene:HS01940, ModBase:P14174, NCBI Gene:4282, OMIM:153620, OMIM:604302, RefSeq DNA:NG_012099, RefSeq DNA:NT_011520, RefSeq Protein:NP_002406, RefSeq RNA:NM_002415, UCSC Genome Browser:NM_002415, UniProtKB:P14174 No chr22 24236565 24237409 23894378 23895222 +PA142671457 57409 HGNC:24030 ENSG00000125457 MIF4G domain containing MIF4GD SLBP-interacting protein 1 AD023, MGC45027, MIFD, SLIP1 Yes No Ensembl:ENSG00000125457, GeneCard:MIF4GD, HGNC:HGNC:24030, HumanCyc Gene:HS13161, NCBI Gene:57409, OMIM:612072, RefSeq DNA:NT_010783, RefSeq Protein:NP_001229427, RefSeq Protein:NP_001229429, RefSeq Protein:NP_001229430, RefSeq Protein:NP_065730, RefSeq RNA:NM_001242498, RefSeq RNA:NM_001242500, RefSeq RNA:NM_001242501, RefSeq RNA:NM_020679, UniProtKB:A9UHW6 No chr17 73262309 73267373 75266228 75271292 +PA142671836 374986 HGNC:24741 ENSG00000180488 mitoguardin 1 MIGA1 family with sequence similarity 73, member A FAM73A, FLJ35093 Yes No Ensembl:ENSG00000180488, GeneCard:FAM73A, HGNC:HGNC:24741, ModBase:Q8NAN2, NCBI Gene:374986, RefSeq DNA:NT_032977, RefSeq Protein:NP_940951, RefSeq RNA:NM_198549, UniProtKB:Q8NAN2 No chr1 78245309 78345225 77779624 77879540 +PA134896424 84895 HGNC:23621 ENSG00000148343 mitoguardin 2 MIGA2 family with sequence similarity 73, member B C9orf54, FAM73B, FLJ00199, FLJ14596 Yes No Ensembl:ENSG00000148343, GeneCard:FAM73B, HGNC:HGNC:23621, HumanCyc Gene:HS14238, NCBI Gene:84895, RefSeq DNA:NT_008470, RefSeq Protein:NP_116198, RefSeq RNA:NM_032809, UniProtKB:Q7L4E1 No chr9 131798899 131834361 129036605 129072082 +PA165751598 60672 HGNC:25715 ENSG00000116691 migration and invasion inhibitory protein MIIP invasion inhibitory protein 45 FLJ12438, IIp45 Yes No Ensembl:ENSG00000116691, GeneCard:MIIP, HGNC:HGNC:25715, HumanCyc Gene:HS12876, NCBI Gene:60672, OMIM:608772, RefSeq DNA:NT_021937, RefSeq Protein:NP_068752, RefSeq RNA:NM_021933, UniProtKB:Q5JXC2 No chr1 12079299 12092106 12019242 12032049 +PA142672243 284021 HGNC:27570 ENSG00000271605 mast cell immunoglobulin like receptor 1 MILR1 allergy inhibitory receptor 1, mast cell antigen 32, mast cell immunoglobulin-like receptor 1 Allergin-1, C17orf60, MCA-32 Yes No Ensembl:ENSG00000271605, GeneCard:C17orf60, HGNC:HGNC:27570, ModBase:Q7Z6M3, NCBI Gene:284021, RefSeq DNA:NT_010783, RefSeq Protein:NP_001078892, RefSeq RNA:NM_001085423, UniProtKB:Q7Z6M3 No chr17 62461567 62464760 64449022 64474009 +PA162395967 100073347 HGNC:33464 ENSG00000268654 MER1 repeat containing imprinted transcript 1 (non-protein coding) MIMT1 long intergenic non-protein coding RNA 67, non-protein coding RNA 67 LINC00067, MIM1, NCRNA00067 Yes No Ensembl:ENSG00000268654, GeneCard:MIMT1, HGNC:HGNC:33464, NCBI Gene:100073347, RefSeq DNA:NT_011109, RefSeq RNA:NR_024059 No chr19 57352270 57359922 56840902 56848554 +PA162393036 23251 HGNC:29172 ENSG00000169330 membrane integral NOTCH2 associated receptor 1 MINAR1 major intrinsically disordered Notch2-associated receptor 1 KIAA1024, UBTOR Yes No Ensembl:ENSG00000169330, GeneCard:KIAA1024, HGNC:HGNC:29172, ModBase:Q9UPX6, NCBI Gene:23251, RefSeq DNA:NT_010194, RefSeq Protein:NP_056021, RefSeq RNA:NM_015206, UniProtKB:Q9UPX6 No chr15 79724858 79764642 79411557 79472304 +PA162393049 100127206 HGNC:33914 ENSG00000186367 membrane integral NOTCH2 associated receptor 2 MINAR2 KIAA1024-like, Major intrinsically disordered NOTCH2-binding receptor 1-like KIAA1024L Yes No Ensembl:ENSG00000186367, GeneCard:KIAA1024L, HGNC:HGNC:33914, NCBI Gene:100127206, RefSeq DNA:NT_034772, RefSeq Protein:XP_001721185, RefSeq Protein:XP_001721353, RefSeq Protein:XP_001722822, RefSeq RNA:XM_001721133, RefSeq RNA:XM_001721301, RefSeq RNA:XM_001722770 No chr5 129083884 129100756 129748191 129765063 +PA142671872 55793 HGNC:25648 ENSG00000143409 MINDY lysine 48 deubiquitinase 1 MINDY1 """MIU-containing novel DUB family member 1"", ""family with sequence similarity 63, member A"", ""motif interacting with Ub-containing novel DUB""" FAM63A, FLJ11280, MINDY-1 Yes No Ensembl:ENSG00000143409, GeneCard:FAM63A, HGNC:HGNC:25648, HumanCyc Gene:HS13964, ModBase:Q8N5J2, NCBI Gene:55793, RefSeq DNA:NT_004487, RefSeq Protein:NP_001035307, RefSeq Protein:NP_001156730, RefSeq Protein:NP_001156731, RefSeq Protein:NP_001156732, RefSeq Protein:NP_060849, RefSeq RNA:NM_001040217, RefSeq RNA:NM_001163258, RefSeq RNA:NM_001163259, RefSeq RNA:NM_001163260, RefSeq RNA:NM_018379, UniProtKB:Q8N5J2 No chr1 150969213 150980854 150996737 151008378 +PA142671873 54629 HGNC:26954 ENSG00000128923 MINDY lysine 48 deubiquitinase 2 MINDY2 family with sequence similarity 63, member B FAM63B, KIAA1164 Yes No Ensembl:ENSG00000128923, GeneCard:FAM63B, HGNC:HGNC:26954, ModBase:Q8NBR6, NCBI Gene:54629, RefSeq DNA:NT_010194, RefSeq Protein:NP_001035540, RefSeq Protein:NP_001035543, RefSeq RNA:NM_001040450, RefSeq RNA:NM_001040453, UniProtKB:Q8NBR6 No chr15 59063393 59149754 58771192 58861900 +PA165548562 80013 HGNC:23578 ENSG00000148481 MINDY lysine 48 deubiquitinase 3 MINDY3 """CARD-containing protein"", ""caspase recruitment domain containing pro-apoptotic protein"", ""family with sequence similarity 188, member A""" C10orf97, CARP, DERP5, FAM188A, FLJ13397, my042 Yes No Ensembl:ENSG00000148481, GeneCard:FAM188A, HGNC:HGNC:23578, HumanCyc Gene:HS07531, ModBase:Q9H3I4, NCBI Gene:80013, OMIM:611649, RefSeq DNA:NT_008705, RefSeq DNA:NT_077569, RefSeq Protein:NP_079224, RefSeq RNA:NM_024948, UniProtKB:Q9H8M7 No chr10 15820173 15902519 15778169 15860533 +PA165618038 84182 HGNC:21916 ENSG00000106125 MINDY lysine 48 deubiquitinase 4 MINDY4 family with sequence similarity 188, member B C7orf67, FAM188B, FLJ22374 Yes No Ensembl:ENSG00000106125, GeneCard:FAM188B, HGNC:HGNC:21916, NCBI Gene:84182, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_115598, RefSeq RNA:NM_032222, UniProtKB:Q4G0A6 No chr7 30811033 30932408 30771417 30892387 +PA165697258 646951 HGNC:35475 ENSG00000214237 MINDY family member 4B MINDY4B family with sequence similarity 188, member B2 C3orf76, FAM188B2 Yes No Ensembl:ENSG00000214237, GeneCard:FAM188B2, HGNC:HGNC:35475, NCBI Gene:646951, RefSeq DNA:NT_005612, RefSeq Protein:XP_001717407, RefSeq Protein:XP_935009, RefSeq Protein:XP_946192, RefSeq RNA:XM_001717355, RefSeq RNA:XM_929916, RefSeq RNA:XM_941099, UniProtKB:A8MYZ0 No chr3 +PA134910641 50488 HGNC:17565 ENSG00000141503 misshapen like kinase 1 MINK1 misshapen-like kinase 1, misshapen/NIK-related kinase B55, MAP4K6, MINK, YSK2, ZC3 Yes No Ensembl:ENSG00000141503, GeneCard:MINK1, HGNC:HGNC:17565, HumanCyc Gene:HS06836, ModBase:Q8N4C8, NCBI Gene:50488, OMIM:609426, RefSeq DNA:NT_010718, RefSeq Protein:NP_001020108, RefSeq Protein:NP_056531, RefSeq Protein:NP_722549, RefSeq Protein:NP_733763, RefSeq RNA:NM_001024937, RefSeq RNA:NM_015716, RefSeq RNA:NM_153827, RefSeq RNA:NM_170663, UniProtKB:Q5U8Z0, UniProtKB:Q8N4C8 No chr17 4736635 4801356 4833340 4898061 +PA30820 9562 HGNC:7102 ENSG00000107789 multiple inositol-polyphosphate phosphatase 1 MINPP1 MIPP Yes No Comparative Toxicogenomics Database:9562, Ensembl:ENSG00000107789, GenAtlas:MINPP1, GeneCard:MINPP1, HGNC:HGNC:7102, HumanCyc Gene:HS03025, ModBase:Q9UNW1, NCBI Gene:9562, OMIM:188470, OMIM:605391, RefSeq DNA:NG_013023, RefSeq DNA:NT_030059, RefSeq Protein:NP_001171588, RefSeq Protein:NP_001171589, RefSeq Protein:NP_004888, RefSeq RNA:NM_001178117, RefSeq RNA:NM_001178118, RefSeq RNA:NM_004897, UCSC Genome Browser:NM_004897, UniProtKB:Q9UNW1 No chr10 89264223 89313218 87502792 87553461 +PA164722300 54468 HGNC:21905 ENSG00000164654 meiosis regulator for oocyte development MIOS """WD repeat-containing protein mio"", ""missing oocyte, meiosis regulator, homolog (Drosophila)""" FLJ20323, MIO, Sea4, Yulink Yes No Ensembl:ENSG00000164654, GeneCard:MIOS, HGNC:HGNC:21905, HumanCyc Gene:HS15225, NCBI Gene:54468, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_061878, RefSeq RNA:NM_019005, UniProtKB:Q9NXC5 No chr7 7606522 7647112 7566875 7609144 +PA24716 55586 HGNC:14522 ENSG00000100253 myo-inositol oxygenase MIOX kidney-specific protein 32 ALDRL6 Yes No Comparative Toxicogenomics Database:55586, Ensembl:ENSG00000100253, GenAtlas:MIOX, GeneCard:MIOX, HGNC:HGNC:14522, HumanCyc Gene:HS02017, ModBase:Q9UGB7, NCBI Gene:55586, OMIM:606774, RefSeq DNA:NT_011526, RefSeq Protein:NP_060054, RefSeq RNA:NM_017584, UCSC Genome Browser:NM_017584, UniProtKB:Q05DJ6, UniProtKB:Q9UGB7 No chr22 50925213 50928750 50483988 50490321 +PA30821 4284 HGNC:7103 ENSG00000135517 major intrinsic protein of lens fiber MIP aquaporin 0 AQP0, LIM1, MP26 Yes No Comparative Toxicogenomics Database:4284, Ensembl:ENSG00000135517, GenAtlas:MIP, GeneCard:MIP, HGNC:HGNC:7103, HumanCyc Gene:HS06023, ModBase:P30301, NCBI Gene:4284, OMIM:154050, OMIM:604219, RefSeq DNA:NG_021397, RefSeq DNA:NT_029419, RefSeq Protein:NP_036196, RefSeq RNA:NM_012064, UCSC Genome Browser:NM_012064, UniProtKB:P30301 No chr12 56843286 56848435 56449502 56456553 +PA30822 4285 HGNC:7104 ENSG00000027001 mitochondrial intermediate peptidase MIPEP MIP Yes No Comparative Toxicogenomics Database:4285, Ensembl:ENSG00000027001, GenAtlas:MIPEP, GeneCard:MIPEP, HGNC:HGNC:7104, HumanCyc Gene:HS00455, ModBase:Q99797, NCBI Gene:4285, OMIM:602241, RefSeq DNA:NT_024524, RefSeq Protein:NP_005923, RefSeq RNA:NM_005932, UCSC Genome Browser:NM_005932, UniProtKB:Q99797 No chr13 24304328 24463587 23730189 23889448 +PA134883770 145282 HGNC:21460 ENSG00000151338 mirror-image polydactyly 1 MIPOL1 CCDC193 Yes No Comparative Toxicogenomics Database:145282, Ensembl:ENSG00000151338, GeneCard:MIPOL1, HGNC:HGNC:21460, HumanCyc Gene:HS14362, ModBase:Q8TD10, NCBI Gene:145282, OMIM:135750, OMIM:606850, RefSeq DNA:NT_026437, RefSeq Protein:NP_001182225, RefSeq Protein:NP_001182226, RefSeq Protein:NP_620059, RefSeq RNA:NM_001195296, RefSeq RNA:NM_001195297, RefSeq RNA:NM_138731, UniProtKB:A8K735, UniProtKB:Q4G0U7, UniProtKB:Q8TD10 No chr14 37667118 38020464 37197888 37579207 +PA164722333 406892 HGNC:31487 ENSG00000207994 microRNA 100 MIR100 hsa-mir-100 Yes No Ensembl:ENSG00000207994, GeneCard:MIR100, HGNC:HGNC:31487, NCBI Gene:406892, OMIM:613186, RefSeq DNA:NT_033899, RefSeq RNA:NR_029515 No chr11 122022937 122023016 122152229 122152308 +PA164722334 406893 HGNC:31488 ENSG00000199135 microRNA 101-1 MIR101-1 hsa-mir-101-1 Yes No Ensembl:ENSG00000199135, GeneCard:MIR101-1, HGNC:HGNC:31488, NCBI Gene:406893, OMIM:612511, RefSeq DNA:NT_032977, RefSeq RNA:NR_029516 No chr1 65524117 65524191 65058434 65058508 +PA164722335 406894 HGNC:31489 ENSG00000199065 microRNA 101-2 MIR101-2 hsa-mir-101-2 Yes No Ensembl:ENSG00000199065, GeneCard:MIR101-2, HGNC:HGNC:31489, NCBI Gene:406894, OMIM:612512, RefSeq DNA:NT_008413, RefSeq RNA:NR_029836 No chr9 4850297 4850375 4850297 4850375 +PA164722336 406895 HGNC:31490 ENSG00000199035 microRNA 103a-1 MIR103A1 hsa-mir-103-1, hsa-mir-103a-1 Yes No Ensembl:ENSG00000199035, GeneCard:MIR103-1, HGNC:HGNC:31490, NCBI Gene:406895, OMIM:613187, RefSeq DNA:NT_023133, RefSeq RNA:NR_029520 No chr5 167987901 167987978 168560896 168560973 +PA164722338 406896 HGNC:31491 ENSG00000199024 microRNA 103a-2 MIR103A2 hsa-mir-103-2, hsa-mir-103a-2 Yes No Ensembl:ENSG00000199024, GeneCard:MIR103-2, HGNC:HGNC:31491, NCBI Gene:406896, OMIM:613188, RefSeq DNA:NT_011387, RefSeq RNA:NR_029519 No chr20 3898141 3898218 3917494 3917571 +PA164722340 406897 HGNC:31492 ENSG00000207957 microRNA 105-1 MIR105-1 hsa-mir-105-1 Yes No Ensembl:ENSG00000207957, GeneCard:MIR105-1, HGNC:HGNC:31492, NCBI Gene:406897, OMIM:300811, RefSeq DNA:NT_167198, RefSeq RNA:NR_029521 No chrX 151560691 151560771 152392219 152392299 +PA164722341 406898 HGNC:31493 ENSG00000207818 microRNA 105-2 MIR105-2 hsa-mir-105-2 Yes No Ensembl:ENSG00000207818, GeneCard:MIR105-2, HGNC:HGNC:31493, NCBI Gene:406898, OMIM:300812, RefSeq DNA:NT_167198, RefSeq RNA:NR_029522 No chrX 151562884 151562964 152394412 152394492 +PA164722342 406899 HGNC:31494 ENSG00000284157 microRNA 106a MIR106A hsa-mir-106a Yes No Ensembl:ENSG00000284157, GeneCard:MIR106A, HGNC:HGNC:31494, NCBI Gene:406899, OMIM:300792, RefSeq DNA:NT_011786, RefSeq RNA:NR_029523 No chrX 133304228 133304308 134170198 134170278 +PA164722343 406900 HGNC:31495 ENSG00000208036 microRNA 106b MIR106B hsa-mir-106b Yes No Ensembl:ENSG00000208036, GeneCard:MIR106B, HGNC:HGNC:31495, NCBI Gene:406900, OMIM:612983, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_029831 No chr7 99691616 99691697 100093993 100094074 +PA164722344 406901 HGNC:31496 ENSG00000198997 microRNA 107 MIR107 hsa-mir-107 Yes Yes Ensembl:ENSG00000198997, GeneCard:MIR107, HGNC:HGNC:31496, NCBI Gene:406901, OMIM:613189, RefSeq DNA:NT_030059, RefSeq RNA:NR_029524 No chr10 91352504 91352584 89592747 89592827 +PA164722345 406902 HGNC:31497 ENSG00000284038 microRNA 10a MIR10A hsa-mir-10a Yes No Ensembl:ENSG00000284038, GeneCard:MIR10A, HGNC:HGNC:31497, NCBI Gene:406902, OMIM:610173, RefSeq DNA:NT_010783, RefSeq RNA:NR_029608 No chr17 46657200 46657309 48579838 48579947 +PA164722346 406903 HGNC:31498 ENSG00000207744 microRNA 10b MIR10B hsa-mir-10b Yes No Ensembl:ENSG00000207744, GeneCard:MIR10B, HGNC:HGNC:31498, NCBI Gene:406903, OMIM:611576, RefSeq DNA:NT_005403, RefSeq RNA:NR_029609 No chr2 177015031 177015140 176150303 176150412 +PA164722331 406904 HGNC:31499 ENSG00000199017 microRNA 1-1 MIR1-1 hsa-mir-1-1 Yes No Ensembl:ENSG00000199017, GeneCard:MIR1-1, HGNC:HGNC:31499, NCBI Gene:406904, OMIM:609326, RefSeq DNA:NT_011362, RefSeq RNA:NR_029780 No chr20 61151513 61151583 62554306 62554376 +PA164722347 100302274 HGNC:35259 ENSG00000283768 microRNA 1178 MIR1178 hsa-mir-1178 Yes No Ensembl:ENSG00000283768, HGNC:HGNC:35259, NCBI Gene:100302274 No chr12 120151439 120151529 119713634 119713724 +PA164722348 100302235 HGNC:35260 ENSG00000221630 microRNA 1179 MIR1179 hsa-mir-1179 Yes No Ensembl:ENSG00000221630, HGNC:HGNC:35260, NCBI Gene:100302235 No chr15 89151338 89151428 88608107 88608197 +PA164722349 100302256 HGNC:35261 ENSG00000221540 microRNA 1180 MIR1180 hsa-mir-1180 Yes No Ensembl:ENSG00000221540, HGNC:HGNC:35261, NCBI Gene:100302256 No chr17 19247819 19247887 19344506 19344574 +PA164722350 100302213 HGNC:35262 ENSG00000284268 microRNA 1181 MIR1181 hsa-mir-1181 Yes No Ensembl:ENSG00000284268, HGNC:HGNC:35262, NCBI Gene:100302213 No chr19 10514134 10514214 10403458 10403538 +PA164722351 100302132 HGNC:35263 ENSG00000283799 microRNA 1182 MIR1182 hsa-mir-1182 Yes No Ensembl:ENSG00000283799, HGNC:HGNC:35263, NCBI Gene:100302132 No chr1 231155574 231155670 231019828 231019924 +PA164722352 100302122 HGNC:35264 ENSG00000221783 microRNA 1183 MIR1183 hsa-mir-1183 Yes No Ensembl:ENSG00000221783, HGNC:HGNC:35264, NCBI Gene:100302122 No chr7 21510676 21510764 21471058 21471146 +PA165756917 100422985 HGNC:38211 ENSG00000221190 microRNA 1184-2 MIR1184-2 hsa-mir-1184-2 Yes No Ensembl:ENSG00000221190, HGNC:HGNC:38211, NCBI Gene:100422985, RefSeq DNA:NG_005114, RefSeq RNA:NR_036259 No chrX 154612749 154612847 155383100 155383198 +PA165756918 100422977 HGNC:38389 ENSG00000221603 microRNA 1184-3 MIR1184-3 hsa-mir-1184-3 Yes No Ensembl:ENSG00000221603, HGNC:HGNC:38389, NCBI Gene:100422977, RefSeq DNA:NG_005114, RefSeq RNA:NR_036260 No chrX 154687178 154687276 155457517 155457615 +PA164722354 100302157 HGNC:35257 ENSG00000221525 microRNA 1185-1 MIR1185-1 hsa-mir-1185-1 Yes No Ensembl:ENSG00000221525, HGNC:HGNC:35257, NCBI Gene:100302157 No chr14 101509314 101509399 101042977 101043062 +PA164722355 100302209 HGNC:35254 ENSG00000221614 microRNA 1185-2 MIR1185-2 hsa-mir-1185-2 Yes No Ensembl:ENSG00000221614, HGNC:HGNC:35254, NCBI Gene:100302209 No chr14 101510535 101510620 101044198 101044283 +PA165479171 100422837 HGNC:38247 ENSG00000221036 microRNA 1193 MIR1193 hsa-mir-1193 Yes No Ensembl:ENSG00000221036, HGNC:HGNC:38247, NCBI Gene:100422837, RefSeq RNA:NR_036132 No chr14 101496389 101496466 101030052 101030129 +PA164722356 100302250 HGNC:35376 ENSG00000221745 microRNA 1197 MIR1197 hsa-mir-1197 Yes No Ensembl:ENSG00000221745, HGNC:HGNC:35376, NCBI Gene:100302250 No chr14 101491901 101491988 101025564 101025651 +PA164722332 406905 HGNC:31500 ENSG00000284453 microRNA 1-2 MIR1-2 hsa-mir-1-2 Yes No Ensembl:ENSG00000284453, GeneCard:MIR1-2, HGNC:HGNC:31500, NCBI Gene:406905, OMIM:610252, RefSeq DNA:NT_010966, RefSeq RNA:NR_029662 No chr18 19408965 19409049 21829004 21829088 +PA164722357 100302113 HGNC:35266 ENSG00000221325 microRNA 1200 MIR1200 hsa-mir-1200 Yes No Ensembl:ENSG00000221325, HGNC:HGNC:35266, NCBI Gene:100302113 No chr7 36958962 36959037 36919357 36919432 +PA164722359 100302259 HGNC:35268 ENSG00000221456 microRNA 1202 MIR1202 hsa-mir-1202 Yes No Ensembl:ENSG00000221456, HGNC:HGNC:35268, NCBI Gene:100302259 No chr6 156267931 156268013 155946797 155946879 +PA164722360 100302211 HGNC:35269 ENSG00000221739 microRNA 1203 MIR1203 hsa-mir-1203 Yes No Ensembl:ENSG00000221739, HGNC:HGNC:35269, NCBI Gene:100302211 No chr17 46233789 46233873 48156427 48156511 +PA164722361 100302185 HGNC:37059 ENSG00000283710 microRNA 1204 MIR1204 hsa-mir-1204 Yes No Ensembl:ENSG00000283710, HGNC:HGNC:37059, NCBI Gene:100302185 No chr8 128808208 128808274 127795962 127796028 +PA164722362 100302161 HGNC:35271 ENSG00000221771 microRNA 1205 MIR1205 hsa-mir-1205 Yes No Ensembl:ENSG00000221771, HGNC:HGNC:35271, NCBI Gene:100302161 No chr8 128972879 128972941 127960633 127960695 +PA164722363 100302170 HGNC:35272 ENSG00000283200 microRNA 1206 MIR1206 hsa-mir-1206 Yes Yes Ensembl:ENSG00000283200, HGNC:HGNC:35272, NCBI Gene:100302170 No chr8 129021144 129021202 128008898 128008956 +PA164722364 100302175 HGNC:35273 ENSG00000221176 microRNA 1207 MIR1207 hsa-mir-1207 Yes No Ensembl:ENSG00000221176, HGNC:HGNC:35273, NCBI Gene:100302175 No chr8 129061398 129061484 128049152 128049238 +PA164722365 100302281 HGNC:35274 ENSG00000221261 microRNA 1208 MIR1208 hsa-mir-1208 Yes No Ensembl:ENSG00000221261, HGNC:HGNC:35274, NCBI Gene:100302281 No chr8 129162362 129162434 128150116 128150188 +PA164722366 406906 HGNC:31501 ENSG00000284440 microRNA 122 MIR122 hsa-mir-122, hsa-mir-122a Yes No Ensembl:ENSG00000284440, GeneCard:MIR122, HGNC:HGNC:31501, NCBI Gene:406906, OMIM:609582, RefSeq DNA:NT_025028, RefSeq RNA:NR_029667 No chr18 56118306 56118390 58451074 58451158 +PA164722367 100187716 HGNC:33923 ENSG00000221120 microRNA 1224 MIR1224 hsa-mir-1224 Yes No Ensembl:ENSG00000221120, GeneCard:MIR1224, HGNC:HGNC:33923, NCBI Gene:100187716, OMIM:611620, RefSeq DNA:NT_005612, RefSeq RNA:NR_030410 No chr3 183959193 183959277 184241405 184241489 +PA164722368 100188847 HGNC:33931 ENSG00000221656 microRNA 1225 MIR1225 hsa-mir-1225 Yes No Ensembl:ENSG00000221656, GeneCard:MIR1225, HGNC:HGNC:33931, NCBI Gene:100188847, OMIM:611621, RefSeq DNA:NT_010393, RefSeq RNA:NR_030646 No chr16 2140196 2140285 2090195 2090284 +PA164722369 100302232 HGNC:33922 ENSG00000221585 microRNA 1226 MIR1226 hsa-mir-1226 Yes No Ensembl:ENSG00000221585, HGNC:HGNC:33922, NCBI Gene:100302232 No chr3 47891045 47891119 47849555 47849629 +PA164722370 100302283 HGNC:33932 ENSG00000221411 microRNA 1227 MIR1227 hsa-mir-1227 Yes No Ensembl:ENSG00000221411, HGNC:HGNC:33932, NCBI Gene:100302283 No chr19 2234061 2234148 2234062 2234149 +PA164722371 100302201 HGNC:33928 ENSG00000221365 microRNA 1228 MIR1228 hsa-mir-1228 Yes No Ensembl:ENSG00000221365, HGNC:HGNC:33928, NCBI Gene:100302201 No chr12 57588287 57588359 57194504 57194576 +PA164722372 100302156 HGNC:33924 ENSG00000221394 microRNA 1229 MIR1229 hsa-mir-1229 Yes No Ensembl:ENSG00000221394, HGNC:HGNC:33924, NCBI Gene:100302156 No chr5 179225278 179225346 179798278 179798346 +PA164722373 100302158 HGNC:33921 ENSG00000221028 microRNA 1231 MIR1231 hsa-mir-1231 Yes No Ensembl:ENSG00000221028, HGNC:HGNC:33921, NCBI Gene:100302158 No chr1 201777739 201777830 201808611 201808702 +PA165479170 100422845 HGNC:38277 ENSG00000221065 microRNA 1233-2 MIR1233-2 hsa-mir-1233-2 Yes No Ensembl:ENSG00000221065, HGNC:HGNC:38277, NCBI Gene:100422845, RefSeq RNA:NR_036261 No chr15 34820491 34820572 34528290 34528371 +PA164722375 100302196 HGNC:33926 ENSG00000284139 microRNA 1234 MIR1234 hsa-mir-1234 Yes No Ensembl:ENSG00000284139, HGNC:HGNC:33926, NCBI Gene:100302196 No chr8 145625476 145625559 144400086 144400165 +PA164722376 100302242 HGNC:33925 ENSG00000284446 microRNA 1236 MIR1236 hsa-mir-1236 Yes No Ensembl:ENSG00000284446, HGNC:HGNC:33925, NCBI Gene:100302242 No chr6 31924616 31924717 31956839 31956940 +PA164722377 100302280 HGNC:33927 ENSG00000221273 microRNA 1237 MIR1237 hsa-mir-1237 Yes No Ensembl:ENSG00000221273, HGNC:HGNC:33927, NCBI Gene:100302280 No chr11 64136074 64136175 64368602 64368703 +PA164722378 100302226 HGNC:33933 ENSG00000221410 microRNA 1238 MIR1238 hsa-mir-1238 Yes No Ensembl:ENSG00000221410, HGNC:HGNC:33933, NCBI Gene:100302226 No chr19 10662798 10662880 10552122 10552204 +PA164722379 406907 HGNC:31502 ENSG00000284321 microRNA 124-1 MIR124-1 hsa-mir-124-1, hsa-mir-124a-1 Yes No Ensembl:ENSG00000284321, GeneCard:MIR124-1, HGNC:HGNC:31502, NCBI Gene:406907, OMIM:609327, RefSeq DNA:NT_077531, RefSeq RNA:NR_029668 No chr8 9760898 9760982 9903388 9903472 +PA164722380 406908 HGNC:31503 ENSG00000207816 microRNA 124-2 MIR124-2 hsa-mir-124-2, hsa-mir-124a-2 Yes No Ensembl:ENSG00000207816, GeneCard:MIR124-2, HGNC:HGNC:31503, NCBI Gene:406908, RefSeq DNA:NT_008183, RefSeq RNA:NR_029669 No chr8 65291706 65291814 64379149 64379257 +PA164722381 406909 HGNC:31504 ENSG00000207598 microRNA 124-3 MIR124-3 hsa-mir-124-3, hsa-mir-124a-3 Yes No Ensembl:ENSG00000207598, GeneCard:MIR124-3, HGNC:HGNC:31504, NCBI Gene:406909, RefSeq DNA:NT_011333, RefSeq RNA:NR_029670 No chr20 61809852 61809938 63178500 63178586 +PA164722382 100302188 HGNC:35304 ENSG00000283193 microRNA 1243 MIR1243 hsa-mir-1243 Yes No Ensembl:ENSG00000283193, HGNC:HGNC:35304, NCBI Gene:100302188 No chr4 114028019 114028111 113106863 113106955 +PA165660377 100422885 HGNC:38321 ENSG00000283498 microRNA 1244-2 MIR1244-2 hsa-mir-1244-2 Yes No Ensembl:ENSG00000283498, HGNC:HGNC:38321, NCBI Gene:100422885, RefSeq RNA:NR_036262 No chr5 118310281 118310365 118974586 118974670 +PA165512950 100422872 HGNC:38390 ENSG00000283429 microRNA 1244-3 MIR1244-3 hsa-mir-1244-3 Yes No Ensembl:ENSG00000283429, HGNC:HGNC:38390, NCBI Gene:100422872, RefSeq RNA:NR_036263 No chr12 9392063 9392147 9239467 9239551 +PA164722385 100302142 HGNC:35312 ENSG00000283203 microRNA 1246 MIR1246 hsa-mir-1246 Yes No Ensembl:ENSG00000283203, HGNC:HGNC:35312, NCBI Gene:100302142 No chr2 177465708 177465780 176600980 176601052 +PA164722386 100302145 HGNC:35313 ENSG00000283857 microRNA 1247 MIR1247 hsa-mir-1247 Yes No Ensembl:ENSG00000283857, HGNC:HGNC:35313, NCBI Gene:100302145 No chr14 102026624 102026759 101560287 101560422 +PA164722387 100302143 HGNC:35314 ENSG00000283958 microRNA 1248 MIR1248 hsa-mir-1248 Yes No Ensembl:ENSG00000283958, HGNC:HGNC:35314, NCBI Gene:100302143 No chr3 +PA164722388 100302149 HGNC:35315 ENSG00000221598 microRNA 1249 MIR1249 hsa-mir-1249 Yes No Ensembl:ENSG00000221598, HGNC:HGNC:35315, NCBI Gene:100302149 No chr22 45596835 45596900 45200954 45201019 +PA164722389 100302229 HGNC:35316 ENSG00000221025 microRNA 1250 MIR1250 hsa-mir-1250 Yes No Ensembl:ENSG00000221025, HGNC:HGNC:35316, NCBI Gene:100302229 No chr17 79106996 79107108 81133196 81133308 +PA164722390 100302289 HGNC:35317 ENSG00000221479 microRNA 1251 MIR1251 hsa-mir-1251 Yes No Ensembl:ENSG00000221479, HGNC:HGNC:35317, NCBI Gene:100302289 No chr12 97885687 97885756 97491909 97491978 +PA164722391 100302136 HGNC:35365 ENSG00000221788 microRNA 1252 MIR1252 hsa-mir-1252 Yes No Ensembl:ENSG00000221788, HGNC:HGNC:35365, NCBI Gene:100302136 No chr12 79813037 79813101 79419257 79419321 +PA164722392 100302208 HGNC:35318 ENSG00000221200 microRNA 1253 MIR1253 hsa-mir-1253 Yes No Ensembl:ENSG00000221200, HGNC:HGNC:35318, NCBI Gene:100302208 No chr17 2651372 2651476 2748078 2748182 +PA164722394 100302193 HGNC:35320 ENSG00000221265 microRNA 1255a MIR1255A hsa-mir-1255a Yes No Ensembl:ENSG00000221265, HGNC:HGNC:35320, NCBI Gene:100302193 No chr4 102251459 102251571 101330302 101330414 +PA164722395 100313806 HGNC:35366 ENSG00000283207 microRNA 1255b-1 MIR1255B1 hsa-mir-1255b-1 Yes No Ensembl:ENSG00000283207, HGNC:HGNC:35366, NCBI Gene:100313806 No chr4 36427988 36428050 36426366 36426428 +PA164722396 100313835 HGNC:35367 ENSG00000221545 microRNA 1255b-2 MIR1255B2 hsa-mir-1255b-2 Yes No Ensembl:ENSG00000221545, HGNC:HGNC:35367, NCBI Gene:100313835 No chr1 167967898 167967964 167998660 167998726 +PA164722397 100302155 HGNC:35321 ENSG00000221808 microRNA 1256 MIR1256 hsa-mir-1256 Yes No Ensembl:ENSG00000221808, HGNC:HGNC:35321, NCBI Gene:100302155 No chr1 21314807 21314925 20988314 20988432 +PA164722398 100302168 HGNC:35322 ENSG00000284193 microRNA 1257 MIR1257 hsa-mir-1257 Yes No Ensembl:ENSG00000284193, HGNC:HGNC:35322, NCBI Gene:100302168 No chr20 60528602 60528718 61953546 61953662 +PA164722399 100302172 HGNC:35323 ENSG00000221240 microRNA 1258 MIR1258 hsa-mir-1258 Yes No Ensembl:ENSG00000221240, HGNC:HGNC:35323, NCBI Gene:100302172 No chr2 180725563 180725635 179860836 179860908 +PA164722401 406910 HGNC:31505 ENSG00000208008 microRNA 125a MIR125A hsa-mir-125a Yes No Ensembl:ENSG00000208008, GeneCard:MIR125A, HGNC:HGNC:31505, NCBI Gene:406910, OMIM:611191, RefSeq DNA:NT_011109, RefSeq RNA:NR_029693 No chr19 52196507 52196592 51693254 51693339 +PA164722402 406911 HGNC:31506 ENSG00000207971 microRNA 125b-1 MIR125B1 hsa-mir-125b-1 Yes No Ensembl:ENSG00000207971, GeneCard:MIR125B1, HGNC:HGNC:31506, NCBI Gene:406911, OMIM:610104, RefSeq DNA:NT_033899, RefSeq RNA:NR_029671 No chr11 121970465 121970552 122099757 122099844 +PA164722403 406912 HGNC:31507 ENSG00000207863 microRNA 125b-2 MIR125B2 hsa-mir-125b-2 Yes No Ensembl:ENSG00000207863, GeneCard:MIR125B2, HGNC:HGNC:31507, NCBI Gene:406912, OMIM:610105, RefSeq DNA:NT_011512, RefSeq RNA:NR_029694 No chr21 17962557 17962645 16590237 16590325 +PA164722404 406913 HGNC:31508 ENSG00000199161 microRNA 126 MIR126 hsa-mir-126 Yes No Ensembl:ENSG00000199161, GeneCard:MIR126, HGNC:HGNC:31508, NCBI Gene:406913, OMIM:611767, RefSeq DNA:NT_024000, RefSeq RNA:NR_029695 No chr9 139565054 139565138 136670602 136670686 +PA165543463 100422991 HGNC:38258 ENSG00000266192 microRNA 1260b MIR1260B hsa-mir-1260b Yes No Ensembl:ENSG00000266192, HGNC:HGNC:38258, NCBI Gene:100422991, RefSeq RNA:NR_036125 No chr11 96074602 96074690 96341438 96341526 +PA164722406 100302228 HGNC:35327 ENSG00000221586 microRNA 1261 MIR1261 hsa-mir-1261 Yes No Ensembl:ENSG00000221586, HGNC:HGNC:35327, NCBI Gene:100302228 No chr11 90602289 90602370 90869121 90869202 +PA164722407 100302279 HGNC:35328 ENSG00000221203 microRNA 1262 MIR1262 hsa-mir-1262 Yes No Ensembl:ENSG00000221203, HGNC:HGNC:35328, NCBI Gene:100302279 No chr1 68649201 68649293 68183518 68183610 +PA164722408 100302148 HGNC:35329 ENSG00000221251 microRNA 1263 MIR1263 hsa-mir-1263 Yes No Ensembl:ENSG00000221251, HGNC:HGNC:35329, NCBI Gene:100302148 No chr3 163889259 163889344 164171471 164171556 +PA164722409 100302251 HGNC:35246 ENSG00000276158 microRNA 1264 MIR1264 hsa-mir-1264 Yes Yes Ensembl:ENSG00000276158, HGNC:HGNC:35246, NCBI Gene:100302251 No chrX 113887130 113887198 114652655 114652723 +PA164722410 100302116 HGNC:35332 ENSG00000221371 microRNA 1265 MIR1265 hsa-mir-1265 Yes No Ensembl:ENSG00000221371, HGNC:HGNC:35332, NCBI Gene:100302116 No chr10 14478575 14478660 14436576 14436661 +PA164722411 100302202 HGNC:35334 ENSG00000221052 microRNA 1266 MIR1266 hsa-mir-1266 Yes No Ensembl:ENSG00000221052, HGNC:HGNC:35334, NCBI Gene:100302202 No chr15 52569314 52569397 52277117 52277200 +PA164722412 100302286 HGNC:35335 ENSG00000221650 microRNA 1267 MIR1267 hsa-mir-1267 Yes No Ensembl:ENSG00000221650, HGNC:HGNC:35335, NCBI Gene:100302286 No chr13 108183519 108183596 107531171 107531248 +PA164722415 406914 HGNC:31509 ENSG00000207608 microRNA 127 MIR127 hsa-mir-127 Yes No Ensembl:ENSG00000207608, GeneCard:MIR127, HGNC:HGNC:31509, NCBI Gene:406914, OMIM:611709, RefSeq DNA:NT_026437, RefSeq RNA:NR_029696 No chr14 101349316 101349412 100882979 100883075 +PA164722416 HGNC:35338 microRNA 1270 MIR1270 Yes No HGNC:HGNC:35338 No +PA164722417 100302203 HGNC:35252 ENSG00000221464 microRNA 1271 MIR1271 hsa-mir-1271 Yes No Ensembl:ENSG00000221464, HGNC:HGNC:35252, NCBI Gene:100302203 No chr5 175794949 175795034 176367946 176368031 +PA164722418 100302184 HGNC:35339 ENSG00000221033 microRNA 1272 MIR1272 hsa-mir-1272 Yes No Ensembl:ENSG00000221033, HGNC:HGNC:35339, NCBI Gene:100302184 No chr15 65054586 65054714 64762387 64762515 +PA165618090 100422821 HGNC:38173 ENSG00000264814 microRNA 1273c MIR1273C hsa-mir-1273c Yes No Ensembl:ENSG00000264814, HGNC:HGNC:38173, NCBI Gene:100422821, RefSeq RNA:NR_036100 No chr6 155174494 155174570 154853360 154853436 +PA164722422 100302123 HGNC:35346 ENSG00000221697 microRNA 1275 MIR1275 hsa-mir-1275 Yes No Ensembl:ENSG00000221697, HGNC:HGNC:35346, NCBI Gene:100302123 No chr6 33967749 33967828 33999972 34000051 +PA164722423 100302121 HGNC:35347 ENSG00000221634 microRNA 1276 MIR1276 hsa-mir-1276 Yes No Ensembl:ENSG00000221634, HGNC:HGNC:35347, NCBI Gene:100302121 No chr15 86313727 86313809 85770496 85770578 +PA164722424 100302214 HGNC:35350 ENSG00000221463 microRNA 1277 MIR1277 hsa-mir-1277 Yes No Ensembl:ENSG00000221463, HGNC:HGNC:35350, NCBI Gene:100302214 No chrX 117520357 117520434 118386394 118386471 +PA164722425 100302163 HGNC:35356 ENSG00000221680 microRNA 1278 MIR1278 hsa-mir-1278 Yes No Ensembl:ENSG00000221680, HGNC:HGNC:35356, NCBI Gene:100302163 No chr1 193105633 193105713 193136503 193136583 +PA164722426 100302182 HGNC:35357 ENSG00000283476 microRNA 1279 MIR1279 hsa-mir-1279 Yes No Ensembl:ENSG00000283476, HGNC:HGNC:35357, NCBI Gene:100302182 No chr12 69666937 69666998 69273157 69273218 +PA164722427 406915 HGNC:31510 ENSG00000207654 microRNA 128-1 MIR128-1 hsa-mir-128-1, hsa-mir-128a Yes No Ensembl:ENSG00000207654, GeneCard:MIR128-1, HGNC:HGNC:31510, NCBI Gene:406915, OMIM:611774, RefSeq DNA:NT_022135, RefSeq RNA:NR_029672 No chr2 136422967 136423048 135665397 135665478 +PA164722430 100302237 HGNC:35359 ENSG00000284015 microRNA 1281 MIR1281 hsa-mir-1281 Yes No Ensembl:ENSG00000284015, HGNC:HGNC:35359, NCBI Gene:100302237 No chr22 41488517 41488570 41092513 41092566 +PA164722428 406916 HGNC:31511 ENSG00000207625 microRNA 128-2 MIR128-2 hsa-mir-128-2, hsa-mir-128b Yes No Ensembl:ENSG00000207625, GeneCard:MIR128-2, HGNC:HGNC:31511, NCBI Gene:406916, OMIM:611769, RefSeq DNA:NT_022517, RefSeq RNA:NR_029824 No chr3 35785968 35786051 35744476 35744559 +PA164722431 100302254 HGNC:35360 ENSG00000221792 microRNA 1282 MIR1282 hsa-mir-1282 Yes No Ensembl:ENSG00000221792, HGNC:HGNC:35360, NCBI Gene:100302254 No chr15 44085857 44085957 43793659 43793759 +PA164722432 100302265 HGNC:35255 ENSG00000221421 microRNA 1283-1 MIR1283-1 hsa-mir-1283-1 Yes No Ensembl:ENSG00000221421, HGNC:HGNC:35255, NCBI Gene:100302265 No chr19 54191735 54191821 53688481 53688567 +PA164722433 100302205 HGNC:35361 ENSG00000221548 microRNA 1283-2 MIR1283-2 hsa-mir-1283-2 Yes No Ensembl:ENSG00000221548, HGNC:HGNC:35361, NCBI Gene:100302205 No chr19 54261486 54261572 53758232 53758318 +PA164722434 100302112 HGNC:35362 ENSG00000221264 microRNA 1284 MIR1284 hsa-mir-1284 Yes No Ensembl:ENSG00000221264, HGNC:HGNC:35362, NCBI Gene:100302112 No chr3 71591121 71591240 71541970 71542089 +PA164722435 100302218 HGNC:35277 ENSG00000221520 microRNA 1285-1 MIR1285-1 hsa-mir-1285-1 Yes No Ensembl:ENSG00000221520, HGNC:HGNC:35277, NCBI Gene:100302218 No chr7 91833329 91833412 92204015 92204098 +PA164722436 100302268 HGNC:35278 ENSG00000221238 microRNA 1285-2 MIR1285-2 hsa-mir-1285-2 Yes No Ensembl:ENSG00000221238, HGNC:HGNC:35278, NCBI Gene:100302268 No chr2 70480050 70480137 70252918 70253005 +PA164722437 100302118 HGNC:35279 ENSG00000221039 microRNA 1286 MIR1286 hsa-mir-1286 Yes No Ensembl:ENSG00000221039, HGNC:HGNC:35279, NCBI Gene:100302118 No chr22 20236657 20236734 20249134 20249211 +PA164722438 100302133 HGNC:35280 ENSG00000284415 microRNA 1287 MIR1287 hsa-mir-1287 Yes No Ensembl:ENSG00000284415, HGNC:HGNC:35280, NCBI Gene:100302133 No chr10 100154975 100155064 98395218 98395307 +PA164722439 100302124 HGNC:35363 ENSG00000221355 microRNA 1288 MIR1288 hsa-mir-1288 Yes No Ensembl:ENSG00000221355, HGNC:HGNC:35363, NCBI Gene:100302124 No chr17 16185328 16185402 16282014 16282088 +PA164722440 100302125 HGNC:35281 ENSG00000221763 microRNA 1289-1 MIR1289-1 hsa-mir-1289-1 Yes No Ensembl:ENSG00000221763, HGNC:HGNC:35281, NCBI Gene:100302125 No chr20 34041776 34041919 35453954 35454097 +PA164722441 100302134 HGNC:35282 ENSG00000221287 microRNA 1289-2 MIR1289-2 hsa-mir-1289-2 Yes No Ensembl:ENSG00000221287, HGNC:HGNC:35282, NCBI Gene:100302134 No chr5 132763288 132763398 133427596 133427706 +PA164722444 100302276 HGNC:35283 ENSG00000221662 microRNA 1290 MIR1290 hsa-mir-1290 Yes No Ensembl:ENSG00000221662, HGNC:HGNC:35283, NCBI Gene:100302276 No chr1 19223565 19223642 18897071 18897148 +PA164722442 406917 HGNC:31512 ENSG00000207705 microRNA 129-1 MIR129-1 hsa-mir-129-1 Yes No Ensembl:ENSG00000207705, GeneCard:MIR129-1, HGNC:HGNC:31512, NCBI Gene:406917, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_029596 No chr7 127847925 127847996 128207872 128207943 +PA164722445 100302221 HGNC:35284 ENSG00000281842 microRNA 1291 MIR1291 hsa-mir-1291 Yes No Ensembl:ENSG00000281842, HGNC:HGNC:35284, NCBI Gene:100302221 No chr12 +PA164722443 406918 HGNC:31513 ENSG00000199077 microRNA 129-2 MIR129-2 hsa-mir-129-2 Yes No Ensembl:ENSG00000199077, GeneCard:MIR129-2, HGNC:HGNC:31513, NCBI Gene:406918, RefSeq DNA:NT_009237, RefSeq RNA:NR_029697 No chr11 43602944 43603033 43581394 43581483 +PA164722446 100302138 HGNC:35364 ENSG00000284481 microRNA 1292 MIR1292 hsa-mir-1292 Yes No Ensembl:ENSG00000284481, HGNC:HGNC:35364, NCBI Gene:100302138 No chr20 2633423 2633488 2652777 2652842 +PA164722447 100302220 HGNC:35286 ENSG00000221604 microRNA 1293 MIR1293 hsa-mir-1293 Yes No Ensembl:ENSG00000221604, HGNC:HGNC:35286, NCBI Gene:100302220 No chr12 50627925 50627995 50234142 50234212 +PA164722448 100302181 HGNC:35287 ENSG00000221430 microRNA 1294 MIR1294 hsa-mir-1294 Yes No Ensembl:ENSG00000221430, HGNC:HGNC:35287, NCBI Gene:100302181 No chr5 153726666 153726807 154347106 154347247 +PA164722450 100302150 HGNC:35249 ENSG00000221063 microRNA 1296 MIR1296 hsa-mir-1296 Yes No Ensembl:ENSG00000221063, HGNC:HGNC:35249, NCBI Gene:100302150 No chr10 65132717 65132808 63372957 63373048 +PA164722451 100302187 HGNC:35289 ENSG00000283126 microRNA 1297 MIR1297 hsa-mir-1297 Yes No Ensembl:ENSG00000283126, HGNC:HGNC:35289, NCBI Gene:100302187 No chr13 54886107 54886183 54311972 54312048 +PA164722452 100302153 HGNC:35258 ENSG00000221710 microRNA 1298 MIR1298 hsa-mir-1298 Yes No Ensembl:ENSG00000221710, HGNC:HGNC:35258, NCBI Gene:100302153 No chrX 113949650 113949761 114715233 114715344 +PA164722453 100302167 HGNC:35290 ENSG00000275377 microRNA 1299 MIR1299 hsa-mir-1299 Yes No Ensembl:ENSG00000275377, HGNC:HGNC:35290, NCBI Gene:100302167 No chr9 69002239 69002321 40929010 40929092 +PA164722455 100302246 HGNC:35253 ENSG00000221445 microRNA 1301 MIR1301 hsa-mir-1301 Yes No Ensembl:ENSG00000221445, HGNC:HGNC:35253, NCBI Gene:100302246 No chr2 25551509 25551590 25328640 25328721 +PA164722456 100302227 HGNC:35293 ENSG00000283507 microRNA 1302-1 MIR1302-1 hsa-mir-1302-1 Yes No Ensembl:ENSG00000283507, HGNC:HGNC:35293, NCBI Gene:100302227 No chr12 113132839 113132981 112695034 112695176 +PA165479172 100422834 HGNC:38233 ENSG00000284557 microRNA 1302-10 MIR1302-10 hsa-mir-1302-10 Yes No Ensembl:ENSG00000284557, HGNC:HGNC:38233, NCBI Gene:100422834, RefSeq RNA:NR_036267 No chr15 102500662 102500799 101960459 101960596 +PA165393755 100422919 HGNC:38246 ENSG00000283801 microRNA 1302-11 MIR1302-11 hsa-mir-1302-11 Yes No Ensembl:ENSG00000283801, HGNC:HGNC:38246, NCBI Gene:100422919, RefSeq RNA:NR_036268 No chr19 71973 72110 71973 72110 +PA164722457 100302278 HGNC:35294 ENSG00000284332 microRNA 1302-2 MIR1302-2 hsa-mir-1302-2 Yes No Ensembl:ENSG00000284332, HGNC:HGNC:35294, NCBI Gene:100302278 No chr1 30366 30503 30366 30503 +PA164722458 100302128 HGNC:35295 ENSG00000221055 microRNA 1302-3 MIR1302-3 hsa-mir-1302-3 Yes No Ensembl:ENSG00000221055, HGNC:HGNC:35295, NCBI Gene:100302128 No chr2 114340536 114340673 113582959 113583096 +PA164722459 100302130 HGNC:35296 ENSG00000221628 microRNA 1302-4 MIR1302-4 hsa-mir-1302-4 Yes No Ensembl:ENSG00000221628, HGNC:HGNC:35296, NCBI Gene:100302130 No chr2 208133999 208134148 207269275 207269424 +PA164722460 100302146 HGNC:35297 ENSG00000221091 microRNA 1302-5 MIR1302-5 hsa-mir-1302-5 Yes No Ensembl:ENSG00000221091, HGNC:HGNC:35297, NCBI Gene:100302146 No chr20 49231173 49231322 50614636 50614785 +PA164722461 100302140 HGNC:35298 ENSG00000221393 microRNA 1302-6 MIR1302-6 hsa-mir-1302-6 Yes No Ensembl:ENSG00000221393, HGNC:HGNC:35298, NCBI Gene:100302140 No chr7 18166843 18166932 18127220 18127309 +PA164722462 100302147 HGNC:35299 ENSG00000221768 microRNA 1302-7 MIR1302-7 hsa-mir-1302-7 Yes No Ensembl:ENSG00000221768, HGNC:HGNC:35299, NCBI Gene:100302147 No chr8 142867603 142867674 141786242 141786313 +PA164722463 100302223 HGNC:35300 ENSG00000221269 microRNA 1302-8 MIR1302-8 hsa-mir-1302-8 Yes No Ensembl:ENSG00000221269, HGNC:HGNC:35300, NCBI Gene:100302223 No chr9 100125836 100125963 97363554 97363681 +PA165585818 100422831 HGNC:38218 ENSG00000283921 microRNA 1302-9 MIR1302-9 hsa-mir-1302-9 Yes No Ensembl:ENSG00000283921, HGNC:HGNC:38218, NCBI Gene:100422831, RefSeq RNA:NR_036266 No chr9 30144 30281 30144 30281 +PA164722464 100302284 HGNC:35301 ENSG00000221552 microRNA 1303 MIR1303 hsa-mir-1303 Yes No Ensembl:ENSG00000221552, HGNC:HGNC:35301, NCBI Gene:100302284 No chr5 154065336 154065421 154685776 154685861 +PA164722465 100302240 HGNC:35302 ENSG00000284458 microRNA 1304 MIR1304 hsa-mir-1304 Yes No Ensembl:ENSG00000284458, HGNC:HGNC:35302, NCBI Gene:100302240 No chr11 93466840 93466930 93733674 93733764 +PA164722466 100302270 HGNC:35303 ENSG00000221227 microRNA 1305 MIR1305 hsa-mir-1305 Yes No Ensembl:ENSG00000221227, HGNC:HGNC:35303, NCBI Gene:100302270 No chr4 183090446 183090531 182169293 182169378 +PA164722467 100302197 HGNC:35371 ENSG00000284464 microRNA 1306 MIR1306 hsa-mir-1306 Yes No Ensembl:ENSG00000284464, HGNC:HGNC:35371, NCBI Gene:100302197 No chr22 20073581 20073665 20086058 20086142 +PA164722468 100302174 HGNC:35372 ENSG00000283867 microRNA 1307 MIR1307 hsa-mir-1307 Yes Yes Ensembl:ENSG00000283867, HGNC:HGNC:35372, NCBI Gene:100302174 No chr10 105154010 105154158 103394253 103394401 +PA164722470 406919 HGNC:31514 ENSG00000208009 microRNA 130a MIR130A hsa-mir-130a Yes No Ensembl:ENSG00000208009, GeneCard:MIR130A, HGNC:HGNC:31514, NCBI Gene:406919, OMIM:610175, RefSeq DNA:NT_167190, RefSeq RNA:NR_029673 No chr11 57408671 57408759 57641198 57641286 +PA164722471 406920 HGNC:31515 ENSG00000283871 microRNA 130b MIR130B hsa-mir-130b Yes No Ensembl:ENSG00000283871, GeneCard:MIR130B, HGNC:HGNC:31515, NCBI Gene:406920, RefSeq DNA:NT_011520, RefSeq RNA:NR_029845 No chr22 22007593 22007674 21653304 21653385 +PA164722472 406921 HGNC:31516 ENSG00000267200 microRNA 132 MIR132 hsa-mir-132 Yes No Ensembl:ENSG00000267200, GeneCard:MIR132, HGNC:HGNC:31516, NCBI Gene:406921, OMIM:610016, RefSeq DNA:NT_010718, RefSeq RNA:NR_029674 No chr17 1953202 1953302 2049908 2050008 +PA164722473 100302171 HGNC:35373 ENSG00000283435 microRNA 1321 MIR1321 hsa-mir-1321 Yes No Ensembl:ENSG00000283435, HGNC:HGNC:35373, NCBI Gene:100302171 No chrX 85090785 85090863 85835780 85835858 +PA164722474 100302166 HGNC:35374 ENSG00000283210 microRNA 1322 MIR1322 hsa-mir-1322 Yes No Ensembl:ENSG00000283210, HGNC:HGNC:35374, NCBI Gene:100302166 No chr8 10682883 10682953 10825373 10825443 +PA164722475 100302255 HGNC:35251 ENSG00000221017 microRNA 1323 MIR1323 hsa-mir-1323 Yes No Ensembl:ENSG00000221017, HGNC:HGNC:35251, NCBI Gene:100302255 No chr19 54175222 54175294 53671968 53672040 +PA164722476 100302212 HGNC:35377 ENSG00000283894 microRNA 1324 MIR1324 hsa-mir-1324 Yes No Ensembl:ENSG00000283894, HGNC:HGNC:35377, NCBI Gene:100302212 No chr3 75679914 75680009 75630763 75630858 +PA164722477 406922 HGNC:31517 ENSG00000283927 microRNA 133a-1 MIR133A1 hsa-mir-133a-1 Yes No Ensembl:ENSG00000283927, GeneCard:MIR133A1, HGNC:HGNC:31517, NCBI Gene:406922, OMIM:610254, RefSeq DNA:NT_010966, RefSeq RNA:NR_029675 No chr18 19405659 19405746 21825698 21825785 +PA164722478 406923 HGNC:31518 ENSG00000284508 microRNA 133a-2 MIR133A2 hsa-mir-133a-2 Yes No Ensembl:ENSG00000284508, GeneCard:MIR133A2, HGNC:HGNC:31518, NCBI Gene:406923, OMIM:610255, RefSeq DNA:NT_011362, RefSeq RNA:NR_029676 No chr20 61162119 61162220 62564912 62565013 +PA164722479 442890 HGNC:31759 ENSG00000199080 microRNA 133b MIR133B hsa-mir-133b Yes Yes Ensembl:ENSG00000199080, GeneCard:MIR133B, HGNC:HGNC:31759, NCBI Gene:442890, OMIM:610946, RefSeq DNA:NT_007592, RefSeq RNA:NR_029903 No chr6 52013721 52013839 52148923 52149041 +PA164722480 406924 HGNC:31519 ENSG00000207993 microRNA 134 MIR134 hsa-mir-134 Yes No Ensembl:ENSG00000207993, GeneCard:MIR134, HGNC:HGNC:31519, NCBI Gene:406924, OMIM:610164, RefSeq DNA:NT_026437, RefSeq RNA:NR_029698 No chr14 101521024 101521096 101054687 101054759 +PA164722481 406925 HGNC:31520 ENSG00000207926 microRNA 135a-1 MIR135A1 hsa-mir-135-1, hsa-mir-135a-1 Yes No Ensembl:ENSG00000207926, GeneCard:MIR135A1, HGNC:HGNC:31520, NCBI Gene:406925, RefSeq DNA:NT_022517, RefSeq RNA:NR_029677 No chr3 52328235 52328324 52294219 52294308 +PA164722482 406926 HGNC:31521 ENSG00000207586 microRNA 135a-2 MIR135A2 hsa-mir-135-2, hsa-mir-135a-2 Yes No Ensembl:ENSG00000207586, GeneCard:MIR135A2, HGNC:HGNC:31521, NCBI Gene:406926, RefSeq DNA:NT_019546, RefSeq DNA:NT_029419, RefSeq RNA:NR_029678 No chr12 97957590 97957689 97563812 97563911 +PA164722483 442891 HGNC:31760 ENSG00000199059 microRNA 135b MIR135B hsa-mir-135b Yes No Ensembl:ENSG00000199059, GeneCard:MIR135B, HGNC:HGNC:31760, NCBI Gene:442891, RefSeq DNA:NT_004487, RefSeq RNA:NR_029893 No chr1 205417430 205417526 205448302 205448398 +PA164722484 406927 HGNC:31522 ENSG00000207942 microRNA 136 MIR136 hsa-mir-136 Yes No Ensembl:ENSG00000207942, GeneCard:MIR136, HGNC:HGNC:31522, NCBI Gene:406927, OMIM:611710, RefSeq DNA:NT_026437, RefSeq RNA:NR_029699 No chr14 101351039 101351120 100884702 100884783 +PA164722485 406928 HGNC:31523 ENSG00000284202 microRNA 137 MIR137 hsa-mir-137, miR-137 Yes No Ensembl:ENSG00000284202, GeneCard:MIR137, HGNC:HGNC:31523, NCBI Gene:406928, RefSeq DNA:NT_032977, RefSeq RNA:NR_029679 No chr1 98511626 98511727 98046070 98046171 +PA164722486 406929 HGNC:31524 ENSG00000207954 microRNA 138-1 MIR138-1 hsa-mir-138-1 Yes No Ensembl:ENSG00000207954, GeneCard:MIR138-1, HGNC:HGNC:31524, NCBI Gene:406929, OMIM:613394, RefSeq DNA:NT_022517, RefSeq RNA:NR_029700 No chr3 44155704 44155802 44114212 44114310 +PA164722487 406930 HGNC:31525 ENSG00000207649 microRNA 138-2 MIR138-2 hsa-mir-138-2 Yes No Ensembl:ENSG00000207649, GeneCard:MIR138-2, HGNC:HGNC:31525, NCBI Gene:406930, OMIM:613395, RefSeq DNA:NT_010498, RefSeq RNA:NR_029680 No chr16 56892430 56892513 56858518 56858601 +PA164722488 406931 HGNC:31526 ENSG00000272036 microRNA 139 MIR139 hsa-mir-139 Yes No Ensembl:ENSG00000272036, GeneCard:MIR139, HGNC:HGNC:31526, NCBI Gene:406931, RefSeq DNA:NT_167190, RefSeq RNA:NR_029603 No chr11 72326107 72326174 72615063 72615130 +PA164722489 406932 HGNC:31527 ENSG00000208017 microRNA 140 MIR140 hsa-mir-140 Yes No Ensembl:ENSG00000208017, GeneCard:MIR140, HGNC:HGNC:31527, NCBI Gene:406932, OMIM:611894, RefSeq DNA:NT_010498, RefSeq RNA:NR_029681 No chr16 69966984 69967083 69933081 69933180 +PA164722490 406933 HGNC:31528 ENSG00000207708 microRNA 141 MIR141 hsa-mir-141 Yes No Ensembl:ENSG00000207708, GeneCard:MIR141, HGNC:HGNC:31528, NCBI Gene:406933, OMIM:612093, RefSeq DNA:NT_009759, RefSeq RNA:NR_029682 No chr12 7073260 7073354 6964097 6964191 +PA164722491 406934 HGNC:31529 ENSG00000284353 microRNA 142 MIR142 hsa-mir-142 Yes No Ensembl:ENSG00000284353, GeneCard:MIR142, HGNC:HGNC:31529, NCBI Gene:406934, RefSeq DNA:NT_010783, RefSeq RNA:NR_029683 No chr17 56408593 56408679 58331232 58331318 +PA164722492 406935 HGNC:31530 ENSG00000284182 microRNA 143 MIR143 hsa-mir-143 Yes No Ensembl:ENSG00000284182, GeneCard:MIR143, HGNC:HGNC:31530, NCBI Gene:406935, OMIM:612117, RefSeq DNA:NT_029289, RefSeq RNA:NR_029684 No chr5 148808481 148808586 149428918 149429023 +PA164722493 406936 HGNC:31531 ENSG00000283819 microRNA 144 MIR144 hsa-mir-144 Yes No Ensembl:ENSG00000283819, GeneCard:MIR144, HGNC:HGNC:31531, NCBI Gene:406936, OMIM:612070, RefSeq DNA:NT_010799, RefSeq RNA:NR_029685 No chr17 27188551 27188636 28861533 28861618 +PA164722494 406937 HGNC:31532 ENSG00000276365 microRNA 145 MIR145 MIR-145, hsa-mir-145 Yes No Ensembl:ENSG00000276365, GeneCard:MIR145, HGNC:HGNC:31532, NCBI Gene:406937, OMIM:611795, RefSeq DNA:NT_029289, RefSeq RNA:NR_029686 No chr5 148810209 148810296 149430646 149430733 +PA164722495 100302115 HGNC:35250 ENSG00000222532 microRNA 1468 MIR1468 hsa-mir-1468 Yes No Ensembl:ENSG00000222532, HGNC:HGNC:35250, NCBI Gene:100302115 No chrX 63005882 63005967 63786002 63786087 +PA164722496 100302258 HGNC:35378 ENSG00000283888 microRNA 1469 MIR1469 hsa-mir-1469 Yes No Ensembl:ENSG00000283888, HGNC:HGNC:35378, NCBI Gene:100302258 No chr15 96876490 96876536 96333261 96333307 +PA164722497 406938 HGNC:31533 ENSG00000283733 microRNA 146a MIR146A hsa-mir-146, hsa-mir-146a Yes Yes Ensembl:ENSG00000283733, GeneCard:MIR146A, HGNC:HGNC:31533, NCBI Gene:406938, OMIM:610566, RefSeq DNA:NT_023133, RefSeq RNA:NR_029701 No chr5 159912359 159912457 160485352 160485450 +PA164722498 574447 HGNC:32079 ENSG00000202569 microRNA 146b MIR146B hsa-mir-146b Yes No Ensembl:ENSG00000202569, GeneCard:MIR146B, HGNC:HGNC:32079, NCBI Gene:574447, OMIM:610567, RefSeq DNA:NT_030059, RefSeq RNA:NR_030169 No chr10 104196269 104196341 102436512 102436584 +PA164722500 100302127 HGNC:35379 ENSG00000269782 microRNA 1470 MIR1470 hsa-mir-1470 Yes No Ensembl:ENSG00000269782, HGNC:HGNC:35379, NCBI Gene:100302127 No chr19 15560359 15560419 15449548 15449608 +PA164722501 100302126 HGNC:35380 ENSG00000222246 microRNA 1471 MIR1471 hsa-mir-1471 Yes No Ensembl:ENSG00000222246, HGNC:HGNC:35380, NCBI Gene:100302126 No chr2 232756952 232757008 231892242 231892298 +PA164722499 406939 HGNC:31534 ENSG00000207814 microRNA 147a MIR147A hsa-mir-147 Yes No Ensembl:ENSG00000207814, GeneCard:MIR147, HGNC:HGNC:31534, NCBI Gene:406939, RefSeq DNA:NT_008470, RefSeq RNA:NR_029604 No chr9 123007257 123007328 120244979 120245050 +PA164722502 100126311 HGNC:33655 ENSG00000284386 microRNA 147b MIR147B hsa-mir-147b Yes No Ensembl:ENSG00000284386, GeneCard:MIR147B, HGNC:HGNC:33655, NCBI Gene:100126311, RefSeq DNA:NT_010194, RefSeq RNA:NR_030599 No chr15 45725248 45725327 45433050 45433129 +PA164722503 406940 HGNC:31535 ENSG00000199085 microRNA 148a MIR148A hsa-mir-148, hsa-mir-148a Yes No Ensembl:ENSG00000199085, GeneCard:MIR148A, HGNC:HGNC:31535, NCBI Gene:406940, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_029597 No chr7 25989539 25989606 25949919 25949986 +PA164722504 442892 HGNC:31761 ENSG00000199122 microRNA 148b MIR148B hsa-mir-148b Yes No Ensembl:ENSG00000199122, GeneCard:MIR148B, HGNC:HGNC:31761, NCBI Gene:442892, RefSeq DNA:NT_029419, RefSeq RNA:NR_029894 No chr12 54731000 54731098 54337216 54337314 +PA164722505 406941 HGNC:31536 ENSG00000207611 microRNA 149 MIR149 hsa-mir-149 Yes No Ensembl:ENSG00000207611, GeneCard:MIR149, HGNC:HGNC:31536, NCBI Gene:406941, RefSeq DNA:NT_005416, RefSeq RNA:NR_029702 No chr2 241395418 241395506 240456001 240456089 +PA164722506 406942 HGNC:31537 ENSG00000207782 microRNA 150 MIR150 hsa-mir-150 Yes No Ensembl:ENSG00000207782, GeneCard:MIR150, HGNC:HGNC:31537, NCBI Gene:406942, OMIM:611114, RefSeq DNA:NT_011109, RefSeq RNA:NR_029703 No chr19 50004042 50004125 49500785 49500868 +PA164722507 442893 HGNC:31762 ENSG00000254324 microRNA 151a MIR151A hsa-mir-151 Yes No Ensembl:ENSG00000254324, GeneCard:MIR151A, HGNC:HGNC:31762, NCBI Gene:442893, RefSeq RNA:NR_029892 No chr8 141742663 141742752 140732564 140732653 +PA164722508 406943 HGNC:31538 ENSG00000207947 microRNA 152 MIR152 hsa-mir-152 Yes No Ensembl:ENSG00000207947, GeneCard:MIR152, HGNC:HGNC:31538, NCBI Gene:406943, RefSeq DNA:NT_010783, RefSeq RNA:NR_029687 No chr17 46114527 46114613 48037161 48037247 +PA164722509 406944 HGNC:31539 ENSG00000207647 microRNA 153-1 MIR153-1 hsa-mir-153-1 Yes No Ensembl:ENSG00000207647, GeneCard:MIR153-1, HGNC:HGNC:31539, NCBI Gene:406944, RefSeq DNA:NT_005403, RefSeq RNA:NR_029688 No chr2 220158833 220158922 219294111 219294200 +PA164722510 406945 HGNC:31540 ENSG00000207960 microRNA 153-2 MIR153-2 hsa-mir-153-2 Yes No Ensembl:ENSG00000207960, GeneCard:MIR153-2, HGNC:HGNC:31540, NCBI Gene:406945, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq RNA:NR_029689 No chr7 157367028 157367114 157574336 157574422 +PA164722511 100302139 HGNC:35381 ENSG00000222831 microRNA 1537 MIR1537 hsa-mir-1537 Yes No Ensembl:ENSG00000222831, HGNC:HGNC:35381, NCBI Gene:100302139 No chr1 236016300 236016360 235853000 235853060 +PA164722512 100302119 HGNC:35382 ENSG00000223109 microRNA 1538 MIR1538 hsa-mir-1538 Yes No Ensembl:ENSG00000223109, HGNC:HGNC:35382, NCBI Gene:100302119 No chr16 69599711 69599771 69565808 69565868 +PA164722513 100302257 HGNC:35383 ENSG00000284239 microRNA 1539 MIR1539 hsa-mir-1539 Yes No Ensembl:ENSG00000284239, HGNC:HGNC:35383, NCBI Gene:100302257 No chr18 47013743 47013792 49487373 49487422 +PA164722514 406946 HGNC:31541 ENSG00000207978 microRNA 154 MIR154 hsa-mir-154 Yes No Ensembl:ENSG00000207978, GeneCard:MIR154, HGNC:HGNC:31541, NCBI Gene:406946, RefSeq DNA:NT_026437, RefSeq RNA:NR_029704 No chr14 101526092 101526175 101059755 101059838 +PA164722515 406947 HGNC:31542 ENSG00000283904 microRNA 155 MIR155 hsa-mir-155 Yes No Ensembl:ENSG00000283904, GeneCard:MIR155, HGNC:HGNC:31542, NCBI Gene:406947, OMIM:609337, RefSeq DNA:NT_011512, RefSeq RNA:NR_030784 No chr21 26946292 26946356 25573980 25574044 +PA165378429 114614 HGNC:35460 ENSG00000234883 MIR155 host gene (non-protein coding) MIR155HG B-cell receptor inducible, BIC transcript, non-protein coding RNA 172 BIC, NCRNA00172 Yes No Ensembl:ENSG00000234883, GeneCard:MIR155HG, HGNC:HGNC:35460, NCBI Gene:114614, RefSeq DNA:NT_011512, RefSeq RNA:NR_001458 No chr21 +PA164722516 406948 HGNC:31543 ENSG00000283785 microRNA 15a MIR15A hsa-mir-15a Yes No Ensembl:ENSG00000283785, GeneCard:MIR15A, HGNC:HGNC:31543, NCBI Gene:406948, OMIM:609703, RefSeq DNA:NT_024524, RefSeq RNA:NR_029485 No chr13 50623255 50623337 50049119 50049201 +PA164722517 406949 HGNC:31544 ENSG00000207779 microRNA 15b MIR15B hsa-mir-15b Yes No Ensembl:ENSG00000207779, GeneCard:MIR15B, HGNC:HGNC:31544, NCBI Gene:406949, RefSeq DNA:NT_005612, RefSeq RNA:NR_029663 No chr3 160122376 160122473 160404588 160404685 +PA164722518 406950 HGNC:31545 ENSG00000208006 microRNA 16-1 MIR16-1 hsa-mir-16-1 Yes No Ensembl:ENSG00000208006, GeneCard:MIR16-1, HGNC:HGNC:31545, NCBI Gene:406950, OMIM:151400, OMIM:609704, RefSeq DNA:NT_024524, RefSeq RNA:NR_029486 No chr13 50623109 50623197 50048973 50049061 +PA164722519 406951 HGNC:31546 ENSG00000198987 microRNA 16-2 MIR16-2 hsa-mir-16-2 Yes No Ensembl:ENSG00000198987, GeneCard:MIR16-2, HGNC:HGNC:31546, NCBI Gene:406951, RefSeq DNA:NT_005612, RefSeq RNA:NR_029525 No chr3 160122533 160122613 160404745 160404825 +PA164722520 406952 HGNC:31547 ENSG00000284536 microRNA 17 MIR17 hsa-mir-17 Yes No Ensembl:ENSG00000284536, GeneCard:MIR17, HGNC:HGNC:31547, NCBI Gene:406952, OMIM:609416, RefSeq DNA:NT_009952, RefSeq RNA:NR_029487 No chr13 92002859 92002942 91350605 91350688 +PA165505138 407975 HGNC:23564 ENSG00000215417 miR-17-92 cluster host gene (non-protein coding) MIR17HG long intergenic non-protein coding RNA 48, non-protein coding RNA 48 FLJ14178, LINC00048, MIHG1, MIRH1, NCRNA00048, miR-17-92 Yes No Ensembl:ENSG00000215417, GeneCard:MIR17HG, HGNC:HGNC:23564, NCBI Gene:407975, OMIM:609415, RefSeq DNA:NT_009952, RefSeq DNA:NT_009952.14, RefSeq RNA:NR_027349, RefSeq RNA:NR_027350, RefSeq RNA:XR_042147, RefSeq RNA:XR_042147.1, RefSeq RNA:XR_042176, RefSeq RNA:XR_042176.1, RefSeq RNA:XR_042177, RefSeq RNA:XR_042177.1, RefSeq RNA:XR_079513, RefSeq RNA:XR_079539, RefSeq RNA:XR_079554 No chr13 92000074 92006829 91347820 91354575 +PA164722521 406995 HGNC:31590 ENSG00000207759 microRNA 181a-1 MIR181A1 hsa-mir-213 Yes No Ensembl:ENSG00000207759, GeneCard:MIR181A1, HGNC:HGNC:31590, NCBI Gene:406995, OMIM:612742, RefSeq DNA:NT_004487, RefSeq RNA:NR_029626 No chr1 198828173 198828282 198859044 198859153 +PA164722522 406954 HGNC:31549 ENSG00000207595 microRNA 181a-2 MIR181A2 hsa-mir-181a Yes No Ensembl:ENSG00000207595, GeneCard:MIR181A2, HGNC:HGNC:31549, NCBI Gene:406954, OMIM:612743, RefSeq DNA:NT_008470, RefSeq RNA:NR_029611 No chr9 127454721 127454830 124692442 124692551 +PA165585837 100379345 HGNC:37188 ENSG00000224020 MIR181A2 host gene (non-protein coding) MIR181A2HG Yes No Ensembl:ENSG00000224020, GeneCard:MIR181A2HG, HGNC:HGNC:37188, NCBI Gene:100379345, RefSeq RNA:NR_038975 No chr9 127420715 127460907 124658436 124698628 +PA164722523 406955 HGNC:31550 ENSG00000207975 microRNA 181b-1 MIR181B1 hsa-mir-181b-1 Yes No Ensembl:ENSG00000207975, GeneCard:MIR181B1, HGNC:HGNC:31550, NCBI Gene:406955, OMIM:612744, RefSeq DNA:NT_004487, RefSeq RNA:NR_029612 No chr1 198828002 198828111 198858873 198858982 +PA164722524 406956 HGNC:31551 ENSG00000207737 microRNA 181b-2 MIR181B2 hsa-mir-181b-2 Yes No Ensembl:ENSG00000207737, GeneCard:MIR181B2, HGNC:HGNC:31551, NCBI Gene:406956, OMIM:612745, RefSeq DNA:NT_008470, RefSeq RNA:NR_029782 No chr9 127455989 127456077 124693710 124693798 +PA164722525 406957 HGNC:31552 ENSG00000207613 microRNA 181c MIR181C hsa-mir-181c Yes No Ensembl:ENSG00000207613, GeneCard:MIR181C, HGNC:HGNC:31552, NCBI Gene:406957, OMIM:612746, RefSeq DNA:NT_011295, RefSeq RNA:NR_029613 No chr19 13985513 13985622 13874699 13874808 +PA164722526 574457 HGNC:32089 ENSG00000207585 microRNA 181d MIR181D hsa-mir-181d Yes No Ensembl:ENSG00000207585, GeneCard:MIR181D, HGNC:HGNC:32089, NCBI Gene:574457, RefSeq DNA:NT_011295, RefSeq RNA:NR_030179 No chr19 13985689 13985825 13874875 13875011 +PA164722527 406958 HGNC:31553 ENSG00000207990 microRNA 182 MIR182 hsa-mir-182 Yes No Ensembl:ENSG00000207990, GeneCard:MIR182, HGNC:HGNC:31553, NCBI Gene:406958, OMIM:611607, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_029614 No chr7 129410223 129410332 129770383 129770492 +PA164722528 100302183 HGNC:35389 ENSG00000284125 microRNA 1825 MIR1825 hsa-mir-1825 Yes No Ensembl:ENSG00000284125, HGNC:HGNC:35389, NCBI Gene:100302183 No chr20 30825598 30825650 32237795 32237847 +PA164722530 100302217 HGNC:35391 ENSG00000221476 microRNA 1827 MIR1827 hsa-mir-1827 Yes No Ensembl:ENSG00000221476, HGNC:HGNC:35391, NCBI Gene:100302217 No chr12 100583662 100583727 100189884 100189949 +PA164722531 406959 HGNC:31554 ENSG00000207691 microRNA 183 MIR183 hsa-mir-183 Yes No Ensembl:ENSG00000207691, GeneCard:MIR183, HGNC:HGNC:31554, NCBI Gene:406959, OMIM:611608, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_029615 No chr7 129414745 129414854 129774905 129775014 +PA164722532 406960 HGNC:31555 ENSG00000207695 microRNA 184 MIR184 hsa-mir-184 Yes No Ensembl:ENSG00000207695, GeneCard:MIR184, HGNC:HGNC:31555, NCBI Gene:406960, OMIM:613146, RefSeq DNA:NT_010194, RefSeq RNA:NR_029705 No chr15 79502130 79502213 79209788 79209871 +PA164722533 406961 HGNC:31556 ENSG00000208023 microRNA 185 MIR185 hsa-mir-185 Yes No Ensembl:ENSG00000208023, GeneCard:MIR185, HGNC:HGNC:31556, NCBI Gene:406961, RefSeq DNA:NT_011519, RefSeq RNA:NR_029706 No chr22 20020662 20020743 20033139 20033220 +PA164722534 406962 HGNC:31557 ENSG00000207721 microRNA 186 MIR186 hsa-mir-186 Yes No Ensembl:ENSG00000207721, GeneCard:MIR186, HGNC:HGNC:31557, NCBI Gene:406962, RefSeq DNA:NT_032977, RefSeq RNA:NR_029707 No chr1 71533314 71533399 71067631 71067716 +PA164722535 406963 HGNC:31558 ENSG00000207797 microRNA 187 MIR187 hsa-mir-187 Yes No Ensembl:ENSG00000207797, GeneCard:MIR187, HGNC:HGNC:31558, NCBI Gene:406963, OMIM:612698, RefSeq DNA:NT_010966, RefSeq RNA:NR_029616 No chr18 33484781 33484889 35904818 35904926 +PA164722536 406964 HGNC:31559 ENSG00000207768 microRNA 188 MIR188 hsa-mir-188 Yes No Ensembl:ENSG00000207768, GeneCard:MIR188, HGNC:HGNC:31559, NCBI Gene:406964, RefSeq DNA:NT_086939, RefSeq RNA:NR_029708 No chrX 49768109 49768194 50003503 50003588 +PA164722537 406953 HGNC:31548 ENSG00000283815 microRNA 18a MIR18A hsa-mir-18, hsa-mir-18a Yes No Ensembl:ENSG00000283815, GeneCard:MIR18A, HGNC:HGNC:31548, NCBI Gene:406953, OMIM:609417, RefSeq DNA:NT_009952, RefSeq RNA:NR_029488 No chr13 92003005 92003075 91350751 91350821 +PA164722538 574033 HGNC:32025 ENSG00000283931 microRNA 18b MIR18B hsa-mir-18b Yes No Ensembl:ENSG00000283931, GeneCard:MIR18B, HGNC:HGNC:32025, NCBI Gene:574033, RefSeq DNA:NT_011786, RefSeq RNA:NR_029949 No chrX 133304071 133304141 134170041 134170111 +PA164722540 100302263 HGNC:35392 ENSG00000284416 microRNA 1908 MIR1908 hsa-mir-1908 Yes No Ensembl:ENSG00000284416, HGNC:HGNC:35392, NCBI Gene:100302263 No chr11 61582633 61582712 61815161 61815240 +PA164722541 100302210 HGNC:35393 ENSG00000284216 microRNA 1909 MIR1909 hsa-mir-1909 Yes No Ensembl:ENSG00000284216, HGNC:HGNC:35393, NCBI Gene:100302210 No chr19 1816158 1816237 1816159 1816238 +PA164722539 406965 HGNC:31560 ENSG00000211137 microRNA 190a MIR190A hsa-mir-190 Yes No Ensembl:ENSG00000211137, GeneCard:MIR190, HGNC:HGNC:31560, NCBI Gene:406965, RefSeq DNA:NT_010194, RefSeq RNA:NR_029709 No chr15 63116156 63116240 62823957 62824041 +PA164722542 100126346 HGNC:33656 ENSG00000215938 microRNA 190b MIR190B hsa-mir-190b Yes No Ensembl:ENSG00000215938, GeneCard:MIR190B, HGNC:HGNC:33656, NCBI Gene:100126346, RefSeq DNA:NT_004487, RefSeq RNA:NR_030600 No chr1 154166141 154166219 154193665 154193743 +PA164722543 406966 HGNC:31561 ENSG00000207605 microRNA 191 MIR191 hsa-mir-191 Yes No Ensembl:ENSG00000207605, GeneCard:MIR191, HGNC:HGNC:31561, NCBI Gene:406966, RefSeq DNA:NT_022517, RefSeq RNA:NR_029690 No chr3 49058051 49058142 49020618 49020709 +PA164722544 100302261 HGNC:35394 ENSG00000283416 microRNA 1910 MIR1910 hsa-mir-1910 Yes No Ensembl:ENSG00000283416, HGNC:HGNC:35394, NCBI Gene:100302261 No chr16 85775227 85775306 85741621 85741700 +PA164722545 100302222 HGNC:35395 ENSG00000222715 microRNA 1911 MIR1911 hsa-mir-1911 Yes No Ensembl:ENSG00000222715, HGNC:HGNC:35395, NCBI Gene:100302222 No chrX 113997744 113997823 114763184 114763263 +PA164722546 100302144 HGNC:35396 ENSG00000222321 microRNA 1912 MIR1912 hsa-mir-1912 Yes Yes Ensembl:ENSG00000222321, HGNC:HGNC:35396, NCBI Gene:100302144 No chrX 113886019 113886098 114651544 114651623 +PA164722547 100302141 HGNC:35397 ENSG00000222958 microRNA 1913 MIR1913 hsa-mir-1913 Yes No Ensembl:ENSG00000222958, HGNC:HGNC:35397, NCBI Gene:100302141 No chr6 166922842 166922921 166509354 166509433 +PA164722548 100302137 HGNC:35398 ENSG00000284433 microRNA 1914 MIR1914 hsa-mir-1914 Yes No Ensembl:ENSG00000284433, HGNC:HGNC:35398, NCBI Gene:100302137 No chr20 62572818 62572897 63941465 63941544 +PA164722549 100302129 HGNC:35399 ENSG00000222071 microRNA 1915 MIR1915 hsa-mir-1915 Yes No Ensembl:ENSG00000222071, HGNC:HGNC:35399, NCBI Gene:100302129 No chr10 21785491 21785570 21496562 21496641 +PA164722550 406967 HGNC:31562 ENSG00000283926 microRNA 192 MIR192 hsa-mir-192 Yes No Ensembl:ENSG00000283926, GeneCard:MIR192, HGNC:HGNC:31562, NCBI Gene:406967, OMIM:610939, RefSeq DNA:NT_167190, RefSeq RNA:NR_029578 No chr11 64658609 64658718 64891137 64891246 +PA164722551 406968 HGNC:31563 ENSG00000207614 microRNA 193a MIR193A hsa-mir-193, hsa-mir-193a Yes No Ensembl:ENSG00000207614, GeneCard:MIR193A, HGNC:HGNC:31563, NCBI Gene:406968, RefSeq DNA:NT_010799, RefSeq RNA:NR_029710 No chr17 29887015 29887102 31559996 31560083 +PA164722552 574455 HGNC:32087 ENSG00000207639 microRNA 193b MIR193B hsa-mir-193b Yes No Ensembl:ENSG00000207639, GeneCard:MIR193B, HGNC:HGNC:32087, NCBI Gene:574455, RefSeq DNA:NT_010393, RefSeq RNA:NR_030177 No chr16 14397824 14397906 14303967 14304049 +PA164722553 406969 HGNC:31564 ENSG00000207624 microRNA 194-1 MIR194-1 hsa-mir-194-1 Yes No Ensembl:ENSG00000207624, GeneCard:MIR194-1, HGNC:HGNC:31564, NCBI Gene:406969, OMIM:610940, RefSeq DNA:NT_167186, RefSeq RNA:NR_029711 No chr1 220291499 220291583 220118157 220118241 +PA164722554 406970 HGNC:31565 ENSG00000284155 microRNA 194-2 MIR194-2 hsa-mir-194-2 Yes No Ensembl:ENSG00000284155, GeneCard:MIR194-2, HGNC:HGNC:31565, NCBI Gene:406970, OMIM:610941, RefSeq DNA:NT_167190, RefSeq RNA:NR_029829 No chr11 64658827 64658911 64891355 64891439 +PA164722555 406971 HGNC:31566 ENSG00000284112 microRNA 195 MIR195 hsa-mir-195 Yes No Ensembl:ENSG00000284112, GeneCard:MIR195, HGNC:HGNC:31566, NCBI Gene:406971, OMIM:610718, RefSeq DNA:NT_010718, RefSeq RNA:NR_029712 No chr17 6920934 6921020 7017615 7017701 +PA164722556 406972 HGNC:31567 ENSG00000210741 microRNA 196a-1 MIR196A1 hsa-mir-196-1, hsa-mir-196a-1 Yes No Ensembl:ENSG00000210741, GeneCard:MIR196A1, HGNC:HGNC:31567, NCBI Gene:406972, OMIM:608632, RefSeq DNA:NT_010783, RefSeq RNA:NR_029582 No chr17 46709852 46709921 48632490 48632559 +PA164722557 406973 HGNC:31568 ENSG00000207924 microRNA 196a-2 MIR196A2 hsa-mir-196-2, hsa-mir-196a-2 Yes No Ensembl:ENSG00000207924, GeneCard:MIR196A2, HGNC:HGNC:31568, NCBI Gene:406973, OMIM:609687, RefSeq DNA:NT_029419, RefSeq RNA:NR_029617 No chr12 54385522 54385631 53991738 53991847 +PA164722558 442920 HGNC:31790 ENSG00000283745 microRNA 196b MIR196B hsa-mir-196b Yes No Ensembl:ENSG00000283745, GeneCard:MIR196B, HGNC:HGNC:31790, NCBI Gene:442920, OMIM:609688, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_029911 No chr7 27209099 27209182 27169480 27169563 +PA164722559 406974 HGNC:31569 ENSG00000284443 microRNA 197 MIR197 hsa-mir-197 Yes No Ensembl:ENSG00000284443, GeneCard:MIR197, HGNC:HGNC:31569, NCBI Gene:406974, OMIM:611189, RefSeq DNA:NT_032977, RefSeq RNA:NR_029583 No chr1 110141515 110141589 109598893 109598967 +PA165450155 100422922 HGNC:38252 ENSG00000239118 microRNA 1972-2 MIR1972-2 hsa-mir-1972-2 Yes No Ensembl:ENSG00000239118, HGNC:HGNC:38252, NCBI Gene:100422922, RefSeq RNA:NR_036265 No chr16 70064249 70064325 70030346 70030422 +PA164722561 100302290 HGNC:37061 ENSG00000284253 microRNA 1973 MIR1973 hsa-mir-1973 Yes No Ensembl:ENSG00000284253, HGNC:HGNC:37061, NCBI Gene:100302290 No chr4 117220881 117220924 116299725 116299768 +PA164722564 100302190 HGNC:37064 ENSG00000238705 microRNA 1976 MIR1976 hsa-mir-1976 Yes No Ensembl:ENSG00000238705, HGNC:HGNC:37064, NCBI Gene:100302190 No chr1 26881033 26881084 26554542 26554593 +PA164722568 406975 HGNC:31570 ENSG00000284121 microRNA 198 MIR198 hsa-mir-198 Yes No Ensembl:ENSG00000284121, GeneCard:MIR198, HGNC:HGNC:31570, NCBI Gene:406975, RefSeq DNA:NT_005612, RefSeq RNA:NR_029584 No chr3 120114515 120114576 120395668 120395729 +PA164722569 406976 HGNC:31571 ENSG00000207752 microRNA 199a-1 MIR199A1 hsa-mir-199a-1 Yes No Ensembl:ENSG00000207752, GeneCard:MIR199A1, HGNC:HGNC:31571, NCBI Gene:406976, OMIM:610719, RefSeq DNA:NT_011295, RefSeq RNA:NR_029586 No chr19 10928102 10928172 10817426 10817496 +PA164722570 406977 HGNC:31572 ENSG00000208024 microRNA 199a-2 MIR199A2 hsa-mir-199a-2 Yes No Ensembl:ENSG00000208024, GeneCard:MIR199A2, HGNC:HGNC:31572, NCBI Gene:406977, OMIM:610720, RefSeq DNA:NT_004487, RefSeq RNA:NR_029618 No chr1 172113675 172113784 172144535 172144644 +PA164722571 406978 HGNC:31573 ENSG00000207581 microRNA 199b MIR199B hsa-mir-199b Yes No Ensembl:ENSG00000207581, GeneCard:MIR199B, HGNC:HGNC:31573, NCBI Gene:406978, RefSeq DNA:NT_008470, RefSeq RNA:NR_029619 No chr9 131007000 131007109 128244721 128244830 +PA164722572 406979 HGNC:31574 ENSG00000284204 microRNA 19a MIR19A hsa-mir-19a Yes No Ensembl:ENSG00000284204, GeneCard:MIR19A, HGNC:HGNC:31574, NCBI Gene:406979, OMIM:609418, RefSeq DNA:NT_009952, RefSeq RNA:NR_029489 No chr13 92003145 92003226 91350891 91350972 +PA164722573 406980 HGNC:31575 ENSG00000284375 microRNA 19b-1 MIR19B1 hsa-mir-19b-1 Yes No Ensembl:ENSG00000284375, GeneCard:MIR19B1, HGNC:HGNC:31575, NCBI Gene:406980, OMIM:609419, RefSeq DNA:NT_009952, RefSeq RNA:NR_029490 No chr13 92003446 92003532 91351192 91351278 +PA164722574 406981 HGNC:31576 ENSG00000284107 microRNA 19b-2 MIR19B2 hsa-mir-19b-2 Yes No Ensembl:ENSG00000284107, GeneCard:MIR19B2, HGNC:HGNC:31576, NCBI Gene:406981, OMIM:300722, RefSeq DNA:NT_011786, RefSeq RNA:NR_029491 No chrX 133303701 133303796 134169671 134169766 +PA164722575 406983 HGNC:31578 ENSG00000207607 microRNA 200a MIR200A hsa-mir-200a Yes No Ensembl:ENSG00000207607, GeneCard:MIR200A, HGNC:HGNC:31578, NCBI Gene:406983, OMIM:612090, RefSeq DNA:NT_004350, RefSeq RNA:NR_029834 No chr1 1103243 1103332 1167863 1167952 +PA164722576 406984 HGNC:31579 ENSG00000207730 microRNA 200b MIR200B hsa-mir-200b Yes No Ensembl:ENSG00000207730, GeneCard:MIR200B, HGNC:HGNC:31579, NCBI Gene:406984, OMIM:612091, RefSeq DNA:NT_004350, RefSeq RNA:NR_029639 No chr1 1102484 1102578 1167104 1167198 +PA164722577 406985 HGNC:31580 ENSG00000207713 microRNA 200c MIR200C hsa-mir-200c Yes No Ensembl:ENSG00000207713, GeneCard:MIR200C, HGNC:HGNC:31580, NCBI Gene:406985, OMIM:612092, RefSeq DNA:NT_009759, RefSeq RNA:NR_029779 No chr12 7072862 7072929 6963699 6963766 +PA164722578 574448 HGNC:32080 ENSG00000284219 microRNA 202 MIR202 hsa-mir-202 Yes Yes Ensembl:ENSG00000284219, GeneCard:MIR202, HGNC:HGNC:32080, NCBI Gene:574448, RefSeq DNA:NT_008818, RefSeq RNA:NR_030170 No chr10 135061015 135061124 133247511 133247620 +PA164722579 406986 HGNC:31581 microRNA 203 MIR203 hsa-mir-203 Yes No GeneCard:MIR203, HGNC:HGNC:31581, NCBI Gene:406986, OMIM:611899, RefSeq DNA:NT_026437, RefSeq RNA:NR_029620 No chr14 104583742 104583851 104117405 104117514 +PA164722580 406987 HGNC:31582 ENSG00000207935 microRNA 204 MIR204 hsa-mir-204 Yes No Ensembl:ENSG00000207935, GeneCard:MIR204, HGNC:HGNC:31582, NCBI Gene:406987, OMIM:610942, RefSeq DNA:NT_008470, RefSeq RNA:NR_029621 No chr9 73424891 73425000 70809975 70810084 +PA164722581 406988 HGNC:31583 ENSG00000284485 microRNA 205 MIR205 hsa-mir-205 Yes No Ensembl:ENSG00000284485, GeneCard:MIR205, HGNC:HGNC:31583, NCBI Gene:406988, OMIM:613147, RefSeq DNA:NT_167186, RefSeq RNA:NR_029622 No chr1 209605478 209605587 209432133 209432242 +PA164722582 100302260 HGNC:37068 ENSG00000283188 microRNA 2052 MIR2052 hsa-mir-2052 Yes No Ensembl:ENSG00000283188, HGNC:HGNC:37068, NCBI Gene:100302260 No chr8 75617928 75617982 74705693 74705747 +PA164722583 100302225 HGNC:37069 ENSG00000238399 microRNA 2053 MIR2053 hsa-mir-2053 Yes Yes Ensembl:ENSG00000238399, HGNC:HGNC:37069, NCBI Gene:100302225 No chr8 113655722 113655812 112643493 112643583 +PA164722584 100302267 HGNC:37070 ENSG00000283550 microRNA 2054 MIR2054 hsa-mir-2054 Yes Yes Ensembl:ENSG00000283550, HGNC:HGNC:37070, NCBI Gene:100302267 No chr4 126428414 126428462 125507259 125507307 +PA164722585 406989 HGNC:31584 ENSG00000207604 microRNA 206 MIR206 hsa-mir-206 Yes No Ensembl:ENSG00000207604, GeneCard:MIR206, HGNC:HGNC:31584, NCBI Gene:406989, OMIM:611599, RefSeq DNA:NT_007592, RefSeq RNA:NR_029713 No chr6 52009147 52009232 52144349 52144434 +PA164722586 406990 HGNC:31585 ENSG00000199157 microRNA 208a MIR208A hsa-mir-208, hsa-mir-208a Yes No Ensembl:ENSG00000199157, GeneCard:MIR208A, HGNC:HGNC:31585, NCBI Gene:406990, OMIM:611116, RefSeq DNA:NT_026437, RefSeq RNA:NR_029595 No chr14 23857805 23857875 23388596 23388666 +PA164722587 100126336 HGNC:33669 ENSG00000215991 microRNA 208b MIR208B hsa-mir-208b Yes No Ensembl:ENSG00000215991, GeneCard:MIR208B, HGNC:HGNC:33669, NCBI Gene:100126336, RefSeq DNA:NT_026437, RefSeq RNA:NR_030624 No chr14 23887196 23887272 23417987 23418063 +PA164722588 406982 HGNC:31577 ENSG00000283762 microRNA 20a MIR20A hsa-mir-20, hsa-mir-20a Yes No Ensembl:ENSG00000283762, GeneCard:MIR20A, HGNC:HGNC:31577, NCBI Gene:406982, OMIM:609420, RefSeq DNA:NT_009952, RefSeq RNA:NR_029492 No chr13 92003319 92003389 91351065 91351135 +PA164722589 574032 HGNC:32024 ENSG00000284043 microRNA 20b MIR20B hsa-mir-20b Yes No Ensembl:ENSG00000284043, GeneCard:MIR20B, HGNC:HGNC:32024, NCBI Gene:574032, RefSeq DNA:NT_011786, RefSeq RNA:NR_029950 No chrX 133303839 133303907 134169809 134169877 +PA164722590 406991 HGNC:31586 ENSG00000284190 microRNA 21 MIR21 MIR-21, hsa-mir-21 Yes No Ensembl:ENSG00000284190, GeneCard:MIR21, HGNC:HGNC:31586, NCBI Gene:406991, OMIM:611020, RefSeq DNA:NT_010783, RefSeq RNA:NR_029493 No chr17 57918627 57918698 59841266 59841337 +PA164722591 406992 HGNC:31587 ENSG00000199038 microRNA 210 MIR210 hsa-mir-210 Yes No Ensembl:ENSG00000199038, GeneCard:MIR210, HGNC:HGNC:31587, NCBI Gene:406992, OMIM:612982, RefSeq DNA:NT_009237, RefSeq RNA:NR_029623 No chr11 568089 568198 568089 568198 +PA164722592 406993 HGNC:31588 ENSG00000207702 microRNA 211 MIR211 hsa-mir-211 Yes No Ensembl:ENSG00000207702, GeneCard:MIR211, HGNC:HGNC:31588, NCBI Gene:406993, RefSeq DNA:NT_010194, RefSeq RNA:NR_029624 No chr15 31357235 31357344 31065032 31065141 +PA164722593 100302224 HGNC:37071 ENSG00000284442 microRNA 2110 MIR2110 hsa-mir-2110 Yes No Ensembl:ENSG00000284442, HGNC:HGNC:37071, NCBI Gene:100302224 No chr10 115933864 115933938 114174105 114174179 +PA164722594 100302164 HGNC:37058 ENSG00000238367 microRNA 2113 MIR2113 hsa-mir-2113 Yes No Ensembl:ENSG00000238367, HGNC:HGNC:37058, NCBI Gene:100302164 No chr6 98472407 98472497 98024531 98024621 +PA165756919 100313839 HGNC:37308 ENSG00000252454 microRNA 2114 MIR2114 hsa-mir-2114 Yes No Ensembl:ENSG00000252454, GeneCard:MIR2114, HGNC:HGNC:37308, NCBI Gene:100313839, RefSeq RNA:NR_031748 No chrX 149396239 149396318 150228004 150228083 +PA165697571 100313840 HGNC:37309 ENSG00000252466 microRNA 2115 MIR2115 hsa-mir-2115 Yes No Ensembl:ENSG00000252466, GeneCard:MIR2115, HGNC:HGNC:37309, NCBI Gene:100313840, RefSeq RNA:NR_031749 No chr3 48357850 48357949 48316360 48316459 +PA165479174 100313886 HGNC:37310 ENSG00000253030 microRNA 2116 MIR2116 hsa-mir-2116 Yes No Ensembl:ENSG00000253030, GeneCard:MIR2116, HGNC:HGNC:37310, NCBI Gene:100313886, RefSeq RNA:NR_031750 No chr15 59463382 59463461 59171183 59171262 +PA165432097 100313779 HGNC:37311 ENSG00000284344 microRNA 2117 MIR2117 hsa-mir-2117 Yes No Ensembl:ENSG00000284344, GeneCard:MIR2117, HGNC:HGNC:37311, NCBI Gene:100313779, RefSeq RNA:NR_031751 No chr17 41522174 41522253 43444806 43444885 +PA164722595 406994 HGNC:31589 ENSG00000267195 microRNA 212 MIR212 hsa-mir-212 Yes No Ensembl:ENSG00000267195, GeneCard:MIR212, HGNC:HGNC:31589, NCBI Gene:406994, OMIM:613487, RefSeq DNA:NT_010718, RefSeq RNA:NR_029625 No chr17 1953565 1953674 2050271 2050380 +PA164722596 406996 HGNC:31591 ENSG00000283844 microRNA 214 MIR214 hsa-mir-214 Yes No Ensembl:ENSG00000283844, GeneCard:MIR214, HGNC:HGNC:31591, NCBI Gene:406996, OMIM:610721, RefSeq DNA:NT_004487, RefSeq RNA:NR_029627 No chr1 172107938 172108047 172138798 172138907 +PA164722597 406997 HGNC:31592 ENSG00000207590 microRNA 215 MIR215 hsa-mir-215 Yes No Ensembl:ENSG00000207590, GeneCard:MIR215, HGNC:HGNC:31592, NCBI Gene:406997, OMIM:610943, RefSeq DNA:NT_167186, RefSeq RNA:NR_029628 No chr1 220291195 220291304 220117853 220117962 +PA164722598 406998 HGNC:31593 ENSG00000207798 microRNA 216a MIR216A hsa-mir-216, hsa-mir-216a Yes No Ensembl:ENSG00000207798, GeneCard:MIR216A, HGNC:HGNC:31593, NCBI Gene:406998, OMIM:610944, RefSeq DNA:NT_022184, RefSeq RNA:NR_029629 No chr2 56216085 56216194 55988950 55989059 +PA164722599 100126319 HGNC:33668 ENSG00000211520 microRNA 216b MIR216B hsa-mir-216b Yes No Ensembl:ENSG00000211520, GeneCard:MIR216B, HGNC:HGNC:33668, NCBI Gene:100126319, RefSeq DNA:NT_022184, RefSeq RNA:NR_030623 No chr2 56227849 56227930 56000714 56000795 +PA164722600 406999 HGNC:31594 ENSG00000207548 microRNA 217 MIR217 hsa-mir-217, miR-217 Yes No Ensembl:ENSG00000207548, GeneCard:MIR217, HGNC:HGNC:31594, NCBI Gene:406999, RefSeq DNA:NT_022184, RefSeq RNA:NR_029630 No chr2 56210102 56210211 55982967 55983076 +PA164722601 407000 HGNC:31595 ENSG00000207732 microRNA 218-1 MIR218-1 hsa-mir-218-1 Yes No Ensembl:ENSG00000207732, GeneCard:MIR218-1, HGNC:HGNC:31595, NCBI Gene:407000, RefSeq DNA:NT_006316, RefSeq RNA:NR_029631 No chr4 20529898 20530007 20528275 20528384 +PA164722602 407001 HGNC:31596 ENSG00000207739 microRNA 218-2 MIR218-2 hsa-mir-218-2 Yes No Ensembl:ENSG00000207739, GeneCard:MIR218-2, HGNC:HGNC:31596, NCBI Gene:407001, RefSeq DNA:NT_023133, RefSeq RNA:NR_029632 No chr5 168195151 168195260 168768146 168768255 +PA164722603 407002 HGNC:31597 microRNA 219-1 MIR219-1 hsa-mir-219-1 Yes No GeneCard:MIR219-1, HGNC:HGNC:31597, NCBI Gene:407002, OMIM:611500, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq RNA:NR_029633 No chr6 33175612 33175721 33207835 33207944 +PA164722605 407004 HGNC:31599 ENSG00000283824 microRNA 22 MIR22 hsa-mir-22 Yes No Ensembl:ENSG00000283824, GeneCard:MIR22, HGNC:HGNC:31599, NCBI Gene:407004, OMIM:612077, RefSeq DNA:NT_010718, RefSeq RNA:NR_029494 No chr17 1617197 1617281 1713903 1713987 +PA164722609 407006 HGNC:31601 ENSG00000207870 microRNA 221 MIR221 hsa-mir-221 Yes No Ensembl:ENSG00000207870, GeneCard:MIR221, HGNC:HGNC:31601, NCBI Gene:407006, OMIM:300568, RefSeq DNA:NT_079573, RefSeq RNA:NR_029635 No chrX 45605585 45605694 45746157 45746266 +PA164722610 407007 HGNC:31602 ENSG00000207725 microRNA 222 MIR222 hsa-mir-222 Yes No Ensembl:ENSG00000207725, GeneCard:MIR222, HGNC:HGNC:31602, NCBI Gene:407007, OMIM:300569, RefSeq DNA:NT_079573, RefSeq RNA:NR_029636 No chrX 45606421 45606530 45747015 45747124 +PA164722611 407008 HGNC:31603 ENSG00000284567 microRNA 223 MIR223 hsa-mir-223 Yes No Ensembl:ENSG00000284567, GeneCard:MIR223, HGNC:HGNC:31603, NCBI Gene:407008, OMIM:300694, RefSeq DNA:NT_011669, RefSeq RNA:NR_029637 No chrX 65238712 65238821 66018870 66018979 +PA164722612 407009 HGNC:31604 ENSG00000284363 microRNA 224 MIR224 hsa-mir-224 Yes No Ensembl:ENSG00000284363, GeneCard:MIR224, HGNC:HGNC:31604, NCBI Gene:407009, OMIM:300769, RefSeq DNA:NT_167198, RefSeq RNA:NR_029638 No chrX 151127050 151127130 151958578 151958658 +PA165505139 100313842 HGNC:37313 ENSG00000252695 microRNA 2276 MIR2276 hsa-mir-2276 Yes No Ensembl:ENSG00000252695, GeneCard:MIR2276, HGNC:HGNC:37313, NCBI Gene:100313842, RefSeq RNA:NR_031753 No chr13 24736555 24736643 24162416 24162504 +PA165660378 100313887 HGNC:37314 ENSG00000284336 microRNA 2277 MIR2277 hsa-mir-2277 Yes No Ensembl:ENSG00000284336, GeneCard:MIR2277, HGNC:HGNC:37314, NCBI Gene:100313887, RefSeq RNA:NR_031754 No chr5 92956402 92956494 93620696 93620788 +PA165585838 100313780 HGNC:37315 ENSG00000252153 microRNA 2278 MIR2278 hsa-mir-2278 Yes No Ensembl:ENSG00000252153, GeneCard:MIR2278, HGNC:HGNC:37315, NCBI Gene:100313780, RefSeq RNA:NR_031755 No chr9 97572244 97572339 94809962 94810057 +PA162378552 84981 HGNC:28219 ENSG00000186594 MIR22 host gene (non-protein coding) MIR22HG DKFZp686O06159, MGC14376 Yes No Ensembl:ENSG00000186594, GeneCard:C17orf91, HGNC:HGNC:28219, NCBI Gene:84981, RefSeq DNA:NT_010718, RefSeq Protein:NP_001001870, RefSeq Protein:NP_116284, RefSeq RNA:NM_001001870, RefSeq RNA:NM_032895, RefSeq RNA:NR_028502, RefSeq RNA:NR_028503, RefSeq RNA:NR_028504, RefSeq RNA:NR_028505 No chr17 1614798 1619566 1711504 1716272 +PA165696805 100423036 HGNC:38328 ENSG00000253008 microRNA 2355 MIR2355 hsa-mir-2355 Yes No Ensembl:ENSG00000253008, HGNC:HGNC:38328, NCBI Gene:100423036, RefSeq RNA:NR_036227 No chr2 207974711 207974797 207109987 207110073 +PA164722613 407010 HGNC:31605 ENSG00000207980 microRNA 23a MIR23A hsa-mir-23a Yes Yes Ensembl:ENSG00000207980, GeneCard:MIR23A, HGNC:HGNC:31605, NCBI Gene:407010, OMIM:607962, RefSeq DNA:NT_011295, RefSeq RNA:NR_029495 No chr19 13947401 13947473 13836587 13836659 +PA164722614 407011 HGNC:31606 ENSG00000207563 microRNA 23b MIR23B hsa-mir-23b Yes Yes Ensembl:ENSG00000207563, GeneCard:MIR23B, HGNC:HGNC:31606, NCBI Gene:407011, OMIM:610723, RefSeq DNA:NT_008470, RefSeq RNA:NR_029664 No chr9 97847490 97847586 95085208 95085304 +PA164722615 407012 HGNC:31607 ENSG00000284459 microRNA 24-1 MIR24-1 hsa-mir-24-1 Yes No Ensembl:ENSG00000284459, GeneCard:MIR24-1, HGNC:HGNC:31607, NCBI Gene:407012, OMIM:609705, RefSeq DNA:NT_008470, RefSeq RNA:NR_029496 No chr9 97848303 97848370 95086021 95086088 +PA164722616 407013 HGNC:31608 ENSG00000284387 microRNA 24-2 MIR24-2 hsa-mir-24-2 Yes Yes Ensembl:ENSG00000284387, GeneCard:MIR24-2, HGNC:HGNC:31608, NCBI Gene:407013, OMIM:610724, RefSeq DNA:NT_011295, RefSeq RNA:NR_029497 No chr19 13947101 13947173 13836287 13836359 +PA164722617 407014 HGNC:31609 ENSG00000207547 microRNA 25 MIR25 hsa-mir-25 Yes No Ensembl:ENSG00000207547, GeneCard:MIR25, HGNC:HGNC:31609, NCBI Gene:407014, OMIM:612150, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_029498 No chr7 99691183 99691266 100093560 100093643 +PA164722618 407015 HGNC:31610 ENSG00000199075 microRNA 26a-1 MIR26A1 hsa-mir-26a-1 Yes No Ensembl:ENSG00000199075, GeneCard:MIR26A1, HGNC:HGNC:31610, NCBI Gene:407015, OMIM:612151, RefSeq DNA:NT_022517, RefSeq RNA:NR_029499 No chr3 38010895 38010971 37969404 37969480 +PA164722619 407016 HGNC:31611 ENSG00000207789 microRNA 26a-2 MIR26A2 hsa-mir-26a-2 Yes No Ensembl:ENSG00000207789, GeneCard:MIR26A2, HGNC:HGNC:31611, NCBI Gene:407016, OMIM:613057, RefSeq DNA:NT_029419, RefSeq RNA:NR_029847 No chr12 58218392 58218475 57824609 57824692 +PA164722620 407017 HGNC:31612 ENSG00000199121 microRNA 26b MIR26B hsa-mir-26b Yes No Ensembl:ENSG00000199121, GeneCard:MIR26B, HGNC:HGNC:31612, NCBI Gene:407017, OMIM:612152, RefSeq DNA:NT_005403, RefSeq RNA:NR_029500 No chr2 219267369 219267445 218402646 218402722 +PA164722621 407018 HGNC:31613 ENSG00000207808 microRNA 27a MIR27A hsa-mir-27a Yes Yes Ensembl:ENSG00000207808, GeneCard:MIR27A, HGNC:HGNC:31613, NCBI Gene:407018, OMIM:612153, RefSeq DNA:NT_011295, RefSeq RNA:NR_029501 No chr19 13947254 13947331 13836440 13836517 +PA164722622 407019 HGNC:31614 ENSG00000207864 microRNA 27b MIR27B MIR-27b, hsa-mir-27b Yes No Ensembl:ENSG00000207864, GeneCard:MIR27B, HGNC:HGNC:31614, NCBI Gene:407019, OMIM:610636, RefSeq DNA:NT_008470, RefSeq RNA:NR_029665 No chr9 97847727 97847823 95085445 95085541 +PA164722623 407020 HGNC:31615 ENSG00000207651 microRNA 28 MIR28 hsa-mir-28 Yes No Ensembl:ENSG00000207651, GeneCard:MIR28, HGNC:HGNC:31615, NCBI Gene:407020, OMIM:612154, RefSeq DNA:NT_005612, RefSeq RNA:NR_029502 No chr3 188406569 188406654 188688781 188688866 +PA165585840 100422910 HGNC:38221 ENSG00000284547 microRNA 2861 MIR2861 hsa-mir-2861 Yes No Ensembl:ENSG00000284547, HGNC:HGNC:38221, NCBI Gene:100422910, OMIM:613405, OMIM:613418, RefSeq RNA:NR_036055 No chr9 130548197 130548286 127785918 127786007 +PA165432098 100422969 HGNC:38372 ENSG00000276326 microRNA 2909 MIR2909 hsa-mir-2909 Yes No Ensembl:ENSG00000276326, HGNC:HGNC:38372, NCBI Gene:100422969, RefSeq RNA:NR_036056 No chr17 35391042 35391110 37033745 37033813 +PA164722624 407022 HGNC:31617 ENSG00000284040 microRNA 296 MIR296 hsa-mir-296 Yes No Ensembl:ENSG00000284040, GeneCard:MIR296, HGNC:HGNC:31617, NCBI Gene:407022, OMIM:610945, RefSeq DNA:NT_011362, RefSeq RNA:NR_029844 No chr20 57392670 57392749 58817615 58817694 +PA164722625 100126354 HGNC:33691 ENSG00000215961 microRNA 297 MIR297 hsa-mir-297 Yes No Ensembl:ENSG00000215961, GeneCard:MIR297, HGNC:HGNC:33691, NCBI Gene:100126354, RefSeq RNA:NR_030643 No chr4 111781738 111781803 110860582 110860647 +PA164722626 100126296 HGNC:33634 ENSG00000216031 microRNA 298 MIR298 hsa-mir-298 Yes No Ensembl:ENSG00000216031, GeneCard:MIR298, HGNC:HGNC:33634, NCBI Gene:100126296, RefSeq DNA:NT_011362, RefSeq RNA:NR_030580 No chr20 57393281 57393368 58818226 58818313 +PA164722627 407023 HGNC:31618 ENSG00000207749 microRNA 299 MIR299 hsa-mir-299 Yes No Ensembl:ENSG00000207749, GeneCard:MIR299, HGNC:HGNC:31618, NCBI Gene:407023, RefSeq DNA:NT_026437, RefSeq RNA:NR_029841 No chr14 101490131 101490193 101023794 101023856 +PA164722628 407021 HGNC:31616 ENSG00000284032 microRNA 29a MIR29A hsa-mir-29, hsa-mir-29a Yes No Ensembl:ENSG00000284032, GeneCard:MIR29A, HGNC:HGNC:31616, NCBI Gene:407021, OMIM:610782, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_029503 No chr7 130561506 130561569 130876747 130876810 +PA164722629 407024 HGNC:31619 ENSG00000283797 microRNA 29b-1 MIR29B1 hsa-mir-29b-1 Yes No Ensembl:ENSG00000283797, GeneCard:MIR29B1, HGNC:HGNC:31619, NCBI Gene:407024, OMIM:610783, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_029517 No chr7 130562218 130562298 130877459 130877539 +PA164722630 407025 HGNC:31620 ENSG00000284203 microRNA 29b-2 MIR29B2 hsa-mir-29b-2 Yes No Ensembl:ENSG00000284203, GeneCard:MIR29B2, HGNC:HGNC:31620, NCBI Gene:407025, RefSeq DNA:NT_167186, RefSeq RNA:NR_029518 No chr1 207975788 207975868 207802443 207802523 +PA164722631 407026 HGNC:31621 ENSG00000284214 microRNA 29c MIR29C hsa-mir-29c Yes No Ensembl:ENSG00000284214, GeneCard:MIR29C, HGNC:HGNC:31621, NCBI Gene:407026, OMIM:610784, RefSeq DNA:NT_167186, RefSeq RNA:NR_029832 No chr1 207975197 207975284 207801852 207801939 +PA164722632 100126297 HGNC:33636 ENSG00000215957 microRNA 300 MIR300 hsa-mir-300 Yes Yes Ensembl:ENSG00000215957, GeneCard:MIR300, HGNC:HGNC:33636, NCBI Gene:100126297, RefSeq DNA:NT_026437, RefSeq RNA:NR_030582 No chr14 101507700 101507782 101041363 101041445 +PA164722633 407027 HGNC:31622 ENSG00000207996 microRNA 301a MIR301A hsa-mir-301, hsa-mir-301a Yes No Ensembl:ENSG00000207996, GeneCard:MIR301A, HGNC:HGNC:31622, NCBI Gene:407027, RefSeq DNA:NT_010783, RefSeq RNA:NR_029842 No chr17 57228497 57228582 59151136 59151221 +PA164722634 100126318 HGNC:33667 ENSG00000212102 microRNA 301b MIR301B hsa-mir-301b Yes No Ensembl:ENSG00000212102, GeneCard:MIR301B, HGNC:HGNC:33667, NCBI Gene:100126318, RefSeq DNA:NT_011520, RefSeq RNA:NR_030622 No chr22 22007270 22007347 21652981 21653058 +PA164722635 407028 HGNC:31623 ENSG00000207927 microRNA 302a MIR302A hsa-mir-302, hsa-mir-302a Yes No Ensembl:ENSG00000207927, GeneCard:MIR302A, HGNC:HGNC:31623, NCBI Gene:407028, RefSeq DNA:NT_016354, RefSeq RNA:NR_029835 No chr4 113569339 113569407 112648183 112648251 +PA164722636 442894 HGNC:31763 ENSG00000284463 microRNA 302b MIR302B hsa-mir-302b Yes No Ensembl:ENSG00000284463, GeneCard:MIR302B, HGNC:HGNC:31763, NCBI Gene:442894, RefSeq DNA:NT_016354, RefSeq RNA:NR_029857 No chr4 113569641 113569713 112648485 112648557 +PA164722637 442895 HGNC:31764 ENSG00000199102 microRNA 302c MIR302C hsa-mir-302c Yes No Ensembl:ENSG00000199102, GeneCard:MIR302C, HGNC:HGNC:31764, NCBI Gene:442895, RefSeq DNA:NT_016354, RefSeq RNA:NR_029858 No chr4 113569519 113569586 112648363 112648430 +PA164722638 442896 HGNC:31765 ENSG00000199145 microRNA 302d MIR302D hsa-mir-302d Yes No Ensembl:ENSG00000199145, GeneCard:MIR302D, HGNC:HGNC:31765, NCBI Gene:442896, RefSeq DNA:NT_016354, RefSeq RNA:NR_029859 No chr4 113569160 113569227 112648004 112648071 +PA164722639 100313774 HGNC:35348 ENSG00000221703 microRNA 302e MIR302E hsa-mir-302e Yes No Ensembl:ENSG00000221703, HGNC:HGNC:35348, NCBI Gene:100313774 No chr11 7255997 7256068 7234766 7234837 +PA164722640 100302131 HGNC:35349 ENSG00000283218 microRNA 302f MIR302F hsa-mir-302f Yes No Ensembl:ENSG00000283218, HGNC:HGNC:35349, NCBI Gene:100302131 No chr18 27878876 27878926 30298910 30298960 +PA165432119 100422915 HGNC:38234 ENSG00000211563 microRNA 3065 MIR3065 hsa-mir-3065 Yes No Ensembl:ENSG00000211563, HGNC:HGNC:38234, NCBI Gene:100422915, RefSeq RNA:NR_036151 No chr17 79099677 79099755 81125877 81125955 +PA165585853 100422842 HGNC:38268 ENSG00000207617 microRNA 3074 MIR3074 hsa-mir-3074 Yes No Ensembl:ENSG00000207617, HGNC:HGNC:38268, NCBI Gene:100422842, RefSeq RNA:NR_036109 No chr9 97848296 97848376 95086014 95086094 +PA164722641 407029 HGNC:31624 ENSG00000207827 microRNA 30a MIR30A hsa-mir-30a Yes No Ensembl:ENSG00000207827, GeneCard:MIR30A, HGNC:HGNC:31624, NCBI Gene:407029, OMIM:612329, RefSeq DNA:NT_007299, RefSeq RNA:NR_029504 No chr6 72113254 72113324 71403551 71403621 +PA164722642 407030 HGNC:31625 ENSG00000207582 microRNA 30b MIR30B hsa-mir-30b Yes No Ensembl:ENSG00000207582, GeneCard:MIR30B, HGNC:HGNC:31625, NCBI Gene:407030, RefSeq DNA:NT_008046, RefSeq RNA:NR_029666 No chr8 135812763 135812850 134800520 134800607 +PA164722643 407031 HGNC:31626 ENSG00000207962 microRNA 30c-1 MIR30C1 hsa-mir-30c-1 Yes No Ensembl:ENSG00000207962, GeneCard:MIR30C1, HGNC:HGNC:31626, NCBI Gene:407031, RefSeq DNA:NT_032977, RefSeq RNA:NR_029833 No chr1 41222956 41223044 40757284 40757372 +PA164722644 407032 HGNC:31627 ENSG00000199094 microRNA 30c-2 MIR30C2 hsa-mir-30c-2 Yes No Ensembl:ENSG00000199094, GeneCard:MIR30C2, HGNC:HGNC:31627, NCBI Gene:407032, RefSeq DNA:NT_007299, RefSeq RNA:NR_029598 No chr6 72086663 72086734 71376960 71377031 +PA164722645 407033 HGNC:31628 ENSG00000199153 microRNA 30d MIR30D hsa-mir-30d Yes No Ensembl:ENSG00000199153, GeneCard:MIR30D, HGNC:HGNC:31628, NCBI Gene:407033, RefSeq DNA:NT_008046, RefSeq RNA:NR_029599 No chr8 135817119 135817188 134804876 134804945 +PA164722646 407034 HGNC:31629 ENSG00000198974 microRNA 30e MIR30E hsa-mir-30e Yes No Ensembl:ENSG00000198974, GeneCard:MIR30E, HGNC:HGNC:31629, NCBI Gene:407034, RefSeq DNA:NT_032977, RefSeq RNA:NR_029846 No chr1 41220027 41220118 40754355 40754446 +PA164722647 407035 HGNC:31630 ENSG00000199177 microRNA 31 MIR31 hsa-mir-31 Yes No Ensembl:ENSG00000199177, GeneCard:MIR31, HGNC:HGNC:31630, NCBI Gene:407035, OMIM:612155, RefSeq DNA:NT_008413, RefSeq RNA:NR_029505 No chr9 21512114 21512184 21512115 21512185 +PA165751624 100422866 HGNC:38371 ENSG00000263793 microRNA 3115 MIR3115 hsa-mir-3115 Yes No Ensembl:ENSG00000263793, HGNC:HGNC:38371, NCBI Gene:100422866, RefSeq RNA:NR_036057 No chr1 23370798 23370865 23044305 23044372 +PA165751625 100422902 HGNC:38200 ENSG00000263908 microRNA 3116-1 MIR3116-1 hsa-mir-3116-1 Yes No Ensembl:ENSG00000263908, HGNC:HGNC:38200, NCBI Gene:100422902, RefSeq RNA:NR_036058 No chr1 62544458 62544531 62078786 62078859 +PA165751626 100422946 HGNC:38318 ENSG00000283690 microRNA 3116-2 MIR3116-2 hsa-mir-3116-2 Yes No Ensembl:ENSG00000283690, HGNC:HGNC:38318, NCBI Gene:100422946, RefSeq RNA:NR_036059 No chr1 62544461 62544528 62078789 62078856 +PA165751627 100422871 HGNC:38385 ENSG00000264720 microRNA 3117 MIR3117 hsa-mir-3117 Yes Yes Ensembl:ENSG00000264720, HGNC:HGNC:38385, NCBI Gene:100422871, RefSeq RNA:NR_036060 No chr1 67094123 67094200 66628440 66628517 +PA165751628 100423008 HGNC:38265 ENSG00000266299 microRNA 3118-1 MIR3118-1 hsa-mir-3118-1 Yes No Ensembl:ENSG00000266299, HGNC:HGNC:38265, NCBI Gene:100423008, RefSeq RNA:NR_036061 No chr21 142667289 142667363 13644775 13644850 +PA165751629 100422949 HGNC:38324 ENSG00000265322 microRNA 3118-2 MIR3118-2 hsa-mir-3118-2 Yes No Ensembl:ENSG00000265322, HGNC:HGNC:38324, NCBI Gene:100422949, RefSeq RNA:NR_036062 No chr15 143163750 143163822 20832795 20832869 +PA165751638 100422844 HGNC:38274 ENSG00000277243 microRNA 3118-3 MIR3118-3 hsa-mir-3118-3 Yes No Ensembl:ENSG00000277243, HGNC:HGNC:38274, NCBI Gene:100422844, RefSeq RNA:NR_036063 No chr15 143424141 143424215 21406385 21406459 +PA165479176 100422935 HGNC:38287 ENSG00000265793 microRNA 3118-4 MIR3118-4 hsa-mir-3118-4 Yes No Ensembl:ENSG00000265793, HGNC:HGNC:38287, NCBI Gene:100422935, RefSeq RNA:NR_036134 No chr15 21038124 21038198 21843750 21843824 +PA165751639 100422839 HGNC:38253 ENSG00000283340 microRNA 3119-1 MIR3119-1 hsa-mir-3119-1 Yes No Ensembl:ENSG00000283340, HGNC:HGNC:38253, NCBI Gene:100422839, RefSeq RNA:NR_036064 No chr1 170120519 170120603 170151378 170151462 +PA165751648 100423010 HGNC:38315 ENSG00000263390 microRNA 3119-2 MIR3119-2 hsa-mir-3119-2 Yes No Ensembl:ENSG00000263390, HGNC:HGNC:38315, NCBI Gene:100423010, RefSeq RNA:NR_036065 No chr1 170120519 170120603 170151378 170151462 +PA165751649 100422882 HGNC:38295 ENSG00000283152 microRNA 3120 MIR3120 hsa-mir-3120 Yes No Ensembl:ENSG00000283152, HGNC:HGNC:38295, NCBI Gene:100422882, RefSeq RNA:NR_036066 No chr1 172107948 172108028 172138808 172138888 +PA165751650 100423032 HGNC:38259 ENSG00000265435 microRNA 3121 MIR3121 hsa-mir-3121 Yes No Ensembl:ENSG00000265435, HGNC:HGNC:38259, NCBI Gene:100423032, RefSeq RNA:NR_036067 No chr1 180407449 180407525 180438314 180438390 +PA165751651 100422947 HGNC:38320 ENSG00000264358 microRNA 3122 MIR3122 hsa-mir-3122 Yes No Ensembl:ENSG00000264358, HGNC:HGNC:38320, NCBI Gene:100422947, RefSeq RNA:NR_036068 No chr1 212250955 212251027 212077613 212077685 +PA165751652 100422856 HGNC:38330 ENSG00000265831 microRNA 3123 MIR3123 hsa-mir-3123 Yes No Ensembl:ENSG00000265831, HGNC:HGNC:38330, NCBI Gene:100422856, RefSeq RNA:NR_036069 No chr1 241295572 241295646 241132272 241132346 +PA165751673 100422879 HGNC:38262 ENSG00000264500 microRNA 3124 MIR3124 hsa-mir-3124 Yes No Ensembl:ENSG00000264500, HGNC:HGNC:38262, NCBI Gene:100422879, RefSeq RNA:NR_036070 No chr1 249120576 249120642 248826377 248826443 +PA165696806 100422986 HGNC:38219 ENSG00000264370 microRNA 3125 MIR3125 hsa-mir-3125 Yes No Ensembl:ENSG00000264370, HGNC:HGNC:38219, NCBI Gene:100422986, RefSeq RNA:NR_036072 No chr2 12877493 12877570 12737367 12737444 +PA165696807 100423030 HGNC:38225 ENSG00000266649 microRNA 3126 MIR3126 hsa-mir-3126 Yes No Ensembl:ENSG00000266649, HGNC:HGNC:38225, NCBI Gene:100423030, RefSeq RNA:NR_036073 No chr2 69330814 69330887 69103682 69103755 +PA165696808 100422928 HGNC:38269 ENSG00000264157 microRNA 3127 MIR3127 hsa-mir-3127 Yes No Ensembl:ENSG00000264157, HGNC:HGNC:38269, NCBI Gene:100422928, RefSeq RNA:NR_036074 No chr2 97464015 97464090 96798278 96798353 +PA165696809 100422824 HGNC:38188 ENSG00000265396 microRNA 3128 MIR3128 hsa-mir-3128 Yes No Ensembl:ENSG00000265396, HGNC:HGNC:38188, NCBI Gene:100422824, RefSeq RNA:NR_036075 No chr2 178120673 178120738 177255945 177256010 +PA165696810 100422908 HGNC:38217 ENSG00000264725 microRNA 3129 MIR3129 hsa-mir-3129 Yes No Ensembl:ENSG00000264725, HGNC:HGNC:38217, NCBI Gene:100422908, RefSeq RNA:NR_036076 No chr2 189997762 189997837 189133036 189133111 +PA165696811 100422993 HGNC:38275 ENSG00000283469 microRNA 3130-1 MIR3130-1 hsa-mir-3130-1, hsa-mir-3130-3 Yes No Ensembl:ENSG00000283469, HGNC:HGNC:38275, NCBI Gene:100422993, RefSeq RNA:NR_036077 No chr2 207647958 207648032 206783234 206783308 +PA165696812 100423002 HGNC:38363 ENSG00000263468 microRNA 3130-2 MIR3130-2 hsa-mir-3130-2, hsa-mir-3130-4 Yes No Ensembl:ENSG00000263468, HGNC:HGNC:38363, NCBI Gene:100423002, RefSeq RNA:NR_036078 No chr2 207647958 207648032 206783234 206783308 +PA165696813 100422957 HGNC:38347 ENSG00000264755 microRNA 3131 MIR3131 hsa-mir-3131 Yes No Ensembl:ENSG00000264755, HGNC:HGNC:38347, NCBI Gene:100422957, RefSeq RNA:NR_036081 No chr2 219923410 219923472 219058688 219058750 +PA165696814 100423039 HGNC:38373 ENSG00000265252 microRNA 3132 MIR3132 hsa-mir-3132 Yes No Ensembl:ENSG00000265252, HGNC:HGNC:38373, NCBI Gene:100423039, RefSeq RNA:NR_036082 No chr2 220413795 220413869 219549073 219549147 +PA165696815 100422942 HGNC:38305 ENSG00000263752 microRNA 3133 MIR3133 hsa-mir-3133 Yes No Ensembl:ENSG00000263752, HGNC:HGNC:38305, NCBI Gene:100422942, RefSeq RNA:NR_036083 No chr2 242417320 242417397 241477905 241477982 +PA165697593 100422990 HGNC:38254 ENSG00000264354 microRNA 3134 MIR3134 hsa-mir-3134 Yes No Ensembl:ENSG00000264354, HGNC:HGNC:38254, NCBI Gene:100422990, RefSeq RNA:NR_036085 No chr3 15738805 15738878 15697298 15697371 +PA165697594 100422901 HGNC:38199 ENSG00000266745 microRNA 3135a MIR3135A hsa-mir-3135 Yes No Ensembl:ENSG00000266745, HGNC:HGNC:38199, NCBI Gene:100422901, RefSeq RNA:NR_036086 No chr3 20179057 20179133 20137565 20137641 +PA165697613 100422859 HGNC:38340 ENSG00000265355 microRNA 3136 MIR3136 hsa-mir-3136 Yes No Ensembl:ENSG00000265355, HGNC:HGNC:38340, NCBI Gene:100422859, RefSeq RNA:NR_036087 No chr3 69098109 69098186 69048958 69049035 +PA165697615 100422926 HGNC:38263 ENSG00000265333 microRNA 3137 MIR3137 hsa-mir-3137 Yes No Ensembl:ENSG00000265333, HGNC:HGNC:38263, NCBI Gene:100422926, RefSeq RNA:NR_036089 No chr3 194855235 194855309 195134506 195134580 +PA165664219 100423011 HGNC:38341 ENSG00000264931 microRNA 3138 MIR3138 hsa-mir-3138 Yes No Ensembl:ENSG00000264931, HGNC:HGNC:38341, NCBI Gene:100423011, RefSeq RNA:NR_036090 No chr4 10080235 10080316 10078611 10078692 +PA165664220 100423017 HGNC:38201 ENSG00000265623 microRNA 3139 MIR3139 hsa-mir-3139 Yes No Ensembl:ENSG00000265623, HGNC:HGNC:38201, NCBI Gene:100423017, RefSeq RNA:NR_036091 No chr4 144264613 144264688 143343460 143343535 +PA165664221 100422896 HGNC:38183 ENSG00000264678 microRNA 3140 MIR3140 hsa-mir-3140 Yes No Ensembl:ENSG00000264678, HGNC:HGNC:38183, NCBI Gene:100422896, RefSeq RNA:NR_036092 No chr4 153410479 153410568 152489327 152489416 +PA165660379 100422950 HGNC:38326 ENSG00000264760 microRNA 3141 MIR3141 hsa-mir-3141 Yes No Ensembl:ENSG00000264760, HGNC:HGNC:38326, NCBI Gene:100422950, RefSeq RNA:NR_036094 No chr5 153975572 153975632 154596012 154596072 +PA165660380 100422938 HGNC:38297 ENSG00000265237 microRNA 3142 MIR3142 hsa-mir-3142 Yes No Ensembl:ENSG00000265237, HGNC:HGNC:38297, NCBI Gene:100422938, RefSeq RNA:NR_036095 No chr5 159901451 159901532 160474444 160474525 +PA165618091 100422934 HGNC:38284 ENSG00000265565 microRNA 3143 MIR3143 hsa-mir-3143 Yes No Ensembl:ENSG00000265565, HGNC:HGNC:38284, NCBI Gene:100422934, RefSeq DNA:NG_000827, RefSeq RNA:NR_036096 No chr6 27115405 27115467 27147626 27147688 +PA165618101 100422951 HGNC:38331 ENSG00000265725 microRNA 3144 MIR3144 hsa-mir-3144 Yes No Ensembl:ENSG00000265725, HGNC:HGNC:38331, NCBI Gene:100422951, RefSeq RNA:NR_036098 No chr6 120336325 120336403 120015179 120015257 +PA165618102 100423001 HGNC:38327 ENSG00000266555 microRNA 3145 MIR3145 hsa-mir-3145 Yes No Ensembl:ENSG00000266555, HGNC:HGNC:38327, NCBI Gene:100423001, RefSeq RNA:NR_036099 No chr6 138756350 138756431 138435213 138435294 +PA165618155 100422967 HGNC:38368 ENSG00000265932 microRNA 3146 MIR3146 hsa-mir-3146 Yes No Ensembl:ENSG00000265932, HGNC:HGNC:38368, NCBI Gene:100422967, RefSeq RNA:NR_036101 No chr7 19744981 19745059 19705358 19705436 +PA165618157 100422939 HGNC:38300 ENSG00000266168 microRNA 3147 MIR3147 hsa-mir-3147 Yes No Ensembl:ENSG00000266168, HGNC:HGNC:38300, NCBI Gene:100422939, RefSeq RNA:NR_036102 No chr7 57472731 57472796 57405025 57405090 +PA165585584 100422876 HGNC:38215 ENSG00000264788 microRNA 3148 MIR3148 hsa-mir-3148 Yes No Ensembl:ENSG00000264788, HGNC:HGNC:38215, NCBI Gene:100422876, RefSeq RNA:NR_036104 No chr8 29814788 29814864 29957272 29957348 +PA165585687 100422921 HGNC:38251 ENSG00000266712 microRNA 3149 MIR3149 hsa-mir-3149 Yes No Ensembl:ENSG00000266712, HGNC:HGNC:38251, NCBI Gene:100422921 No chr8 +PA165585689 100422964 HGNC:38362 ENSG00000283522 microRNA 3150a MIR3150A hsa-mir-3150, hsa-mir-3150a Yes No Ensembl:ENSG00000283522, HGNC:HGNC:38362, NCBI Gene:100422964, RefSeq RNA:NR_036105 No chr8 96085142 96085221 95072914 95072993 +PA165585690 100422992 HGNC:38266 ENSG00000265657 microRNA 3151 MIR3151 hsa-mir-3151 Yes No Ensembl:ENSG00000265657, HGNC:HGNC:38266, NCBI Gene:100422992, RefSeq RNA:NR_036106 No chr8 104166842 104166917 103154614 103154689 +PA165585855 100422869 HGNC:38379 ENSG00000264638 microRNA 3152 MIR3152 hsa-mir-3152 Yes No Ensembl:ENSG00000264638, HGNC:HGNC:38379, NCBI Gene:100422869, RefSeq RNA:NR_036107 No chr9 18573304 18573377 18573306 18573379 +PA165585857 100422936 HGNC:38289 ENSG00000265112 microRNA 3153 MIR3153 hsa-mir-3153 Yes No Ensembl:ENSG00000265112, HGNC:HGNC:38289, NCBI Gene:100422936, RefSeq RNA:NR_036108 No chr9 91927140 91927221 89312225 89312306 +PA165585858 100422893 HGNC:38176 ENSG00000264823 microRNA 3154 MIR3154 hsa-mir-3154 Yes No Ensembl:ENSG00000264823, HGNC:HGNC:38176, NCBI Gene:100422893, RefSeq RNA:NR_036110 No chr9 131007226 131007309 128244947 128245030 +PA165548829 100422989 HGNC:38245 ENSG00000263628 microRNA 3155a MIR3155A hsa-mir-3155 Yes No Ensembl:ENSG00000263628, HGNC:HGNC:38245, NCBI Gene:100422989, RefSeq RNA:NR_036111 No chr10 6194159 6194240 6152196 6152277 +PA165548830 100422988 HGNC:38241 ENSG00000263476 microRNA 3156-1 MIR3156-1 hsa-mir-3156-1 Yes No Ensembl:ENSG00000263476, HGNC:HGNC:38241, NCBI Gene:100422988, RefSeq RNA:NR_036112 No chr10 45659462 45659536 45164014 45164088 +PA165429050 100422907 HGNC:38213 ENSG00000265499 microRNA 3156-2 MIR3156-2 hsa-mir-3156-2 Yes No Ensembl:ENSG00000265499, HGNC:HGNC:38213, NCBI Gene:100422907, RefSeq RNA:NR_036153 No chr18 14830165 14830241 14830166 14830242 +PA165378431 100423018 HGNC:38229 ENSG00000266211 microRNA 3156-3 MIR3156-3 hsa-mir-3156-3 Yes No Ensembl:ENSG00000266211, HGNC:HGNC:38229, NCBI Gene:100423018, RefSeq RNA:NR_036164 No chr21 14778705 14778781 13406384 13406460 +PA165548831 100422892 HGNC:38172 ENSG00000266407 microRNA 3157 MIR3157 hsa-mir-3157 Yes No Ensembl:ENSG00000266407, HGNC:HGNC:38172, NCBI Gene:100422892, RefSeq RNA:NR_036113 No chr10 97824072 97824156 96064315 96064399 +PA165548832 100422900 HGNC:38196 ENSG00000263436 microRNA 3158-1 MIR3158-1 hsa-mir-3158-1 Yes No Ensembl:ENSG00000263436, HGNC:HGNC:38196, NCBI Gene:100422900, RefSeq RNA:NR_036114 No chr10 103361174 103361254 101601417 101601497 +PA165548833 100423033 HGNC:38279 ENSG00000283558 microRNA 3158-2 MIR3158-2 hsa-mir-3158-2 Yes No Ensembl:ENSG00000283558, HGNC:HGNC:38279, NCBI Gene:100423033, RefSeq RNA:NR_036115 No chr10 103361174 103361254 101601417 101601497 +PA165543464 100423016 HGNC:38181 ENSG00000264603 microRNA 3159 MIR3159 hsa-mir-3159 Yes No Ensembl:ENSG00000264603, HGNC:HGNC:38181, NCBI Gene:100423016, RefSeq RNA:NR_036116 No chr11 18409334 18409407 18387787 18387860 +PA165543465 100422827 HGNC:38197 ENSG00000265014 microRNA 3160-1 MIR3160-1 hsa-mir-3160-1 Yes No Ensembl:ENSG00000265014, HGNC:HGNC:38197, NCBI Gene:100422827, RefSeq RNA:NR_036117 No chr11 46473355 46473439 46451805 46451889 +PA165543466 100422825 HGNC:38192 ENSG00000283497 microRNA 3160-2 MIR3160-2 hsa-mir-3160-2 Yes No Ensembl:ENSG00000283497, HGNC:HGNC:38192, NCBI Gene:100422825, RefSeq RNA:NR_036118 No chr11 46473357 46473437 46451807 46451887 +PA165543467 100423000 HGNC:38285 ENSG00000263693 microRNA 3161 MIR3161 hsa-mir-3161 Yes No Ensembl:ENSG00000263693, HGNC:HGNC:38285, NCBI Gene:100423000, RefSeq RNA:NR_036119 No chr11 48118334 48118410 48096782 48096858 +PA165543468 100422880 HGNC:38271 ENSG00000264559 microRNA 3162 MIR3162 hsa-mir-3162 Yes No Ensembl:ENSG00000264559, HGNC:HGNC:38271, NCBI Gene:100422880, RefSeq RNA:NR_036120 No chr11 59362550 59362631 59595077 59595158 +PA165543469 100423029 HGNC:38209 ENSG00000266423 microRNA 3163 MIR3163 hsa-mir-3163 Yes No Ensembl:ENSG00000266423, HGNC:HGNC:38209, NCBI Gene:100423029, RefSeq RNA:NR_036121 No chr11 66701905 66701977 66934434 66934506 +PA165543470 100422846 HGNC:38288 ENSG00000265539 microRNA 3164 MIR3164 hsa-mir-3164 Yes No Ensembl:ENSG00000265539, HGNC:HGNC:38288, NCBI Gene:100422846, RefSeq RNA:NR_036122 No chr11 68850644 68850726 69083176 69083258 +PA165543471 100422953 HGNC:38335 ENSG00000263742 microRNA 3165 MIR3165 hsa-mir-3165 Yes No Ensembl:ENSG00000263742, HGNC:HGNC:38335, NCBI Gene:100422953, RefSeq RNA:NR_036123 No chr11 71783274 71783348 72072228 72072302 +PA165543472 100423040 HGNC:38386 ENSG00000266581 microRNA 3166 MIR3166 hsa-mir-3166 Yes No Ensembl:ENSG00000266581, HGNC:HGNC:38386, NCBI Gene:100423040, RefSeq RNA:NR_036124 No chr11 87909670 87909761 88176502 88176593 +PA165543473 100422918 HGNC:38242 ENSG00000266215 microRNA 3167 MIR3167 hsa-mir-3167 Yes No Ensembl:ENSG00000266215, HGNC:HGNC:38242, NCBI Gene:100422918, RefSeq RNA:NR_036126 No chr11 126858354 126858438 126988458 126988542 +PA165505140 100422878 HGNC:38249 ENSG00000264226 microRNA 3168 MIR3168 hsa-mir-3168 Yes No Ensembl:ENSG00000264226, HGNC:HGNC:38249, NCBI Gene:100422878, RefSeq RNA:NR_036127 No chr13 41675155 41675236 41101019 41101100 +PA165505157 100422973 HGNC:38380 ENSG00000266663 microRNA 3169 MIR3169 hsa-mir-3169 Yes No Ensembl:ENSG00000266663, HGNC:HGNC:38380, NCBI Gene:100422973, RefSeq RNA:NR_036128 No chr13 61773932 61774014 61199798 61199880 +PA165505158 100422881 HGNC:38282 ENSG00000263399 microRNA 3170 MIR3170 hsa-mir-3170 Yes No Ensembl:ENSG00000263399, HGNC:HGNC:38282, NCBI Gene:100422881, RefSeq RNA:NR_036129 No chr13 98860778 98860854 98208524 98208600 +PA165479173 100422830 HGNC:38216 ENSG00000264657 microRNA 3171 MIR3171 hsa-mir-3171 Yes No Ensembl:ENSG00000264657, HGNC:HGNC:38216, NCBI Gene:100422830 No chr14 +PA165479177 100422981 HGNC:38174 ENSG00000264607 microRNA 3173 MIR3173 hsa-mir-3173 Yes No Ensembl:ENSG00000264607, HGNC:HGNC:38174, NCBI Gene:100422981, RefSeq RNA:NR_036131 No chr14 95604256 95604323 95137919 95137986 +PA165479180 100422841 HGNC:38264 ENSG00000265871 microRNA 3174 MIR3174 hsa-mir-3174 Yes No Ensembl:ENSG00000265871, HGNC:HGNC:38264, NCBI Gene:100422841, RefSeq RNA:NR_036135 No chr15 90549987 90550073 90006755 90006841 +PA165479182 100422995 HGNC:38299 ENSG00000284324 microRNA 3175 MIR3175 hsa-mir-3175 Yes No Ensembl:ENSG00000284324, HGNC:HGNC:38299, NCBI Gene:100422995, RefSeq RNA:NR_036136 No chr15 93447629 93447705 92904399 92904475 +PA165450156 100423037 HGNC:38345 ENSG00000266235 microRNA 3176 MIR3176 hsa-mir-3176 Yes No Ensembl:ENSG00000266235, HGNC:HGNC:38345, NCBI Gene:100423037, RefSeq RNA:NR_036137 No chr16 593277 593366 543277 543366 +PA165450171 100423012 HGNC:38364 ENSG00000265820 microRNA 3177 MIR3177 hsa-mir-3177 Yes No Ensembl:ENSG00000265820, HGNC:HGNC:38364, NCBI Gene:100423012, RefSeq RNA:NR_036138 No chr16 1784986 1785067 1734985 1735066 +PA165450172 100422974 HGNC:38381 ENSG00000266232 microRNA 3178 MIR3178 hsa-mir-3178 Yes No Ensembl:ENSG00000266232, HGNC:HGNC:38381, NCBI Gene:100422974, RefSeq RNA:NR_036139 No chr16 2581923 2582006 2531922 2532005 +PA165450173 100422960 HGNC:38353 ENSG00000284305 microRNA 3179-1 MIR3179-1 hsa-mir-3179-1 Yes No Ensembl:ENSG00000284305, HGNC:HGNC:38353, NCBI Gene:100422960, RefSeq RNA:NR_036140 No chr16 14995365 14995448 14901508 14901591 +PA165450192 100422886 HGNC:38325 ENSG00000257381 microRNA 3179-2 MIR3179-2 hsa-mir-3179-2 Yes No Ensembl:ENSG00000257381, HGNC:HGNC:38325, NCBI Gene:100422886, RefSeq RNA:NR_036143 No chr16 16394016 16394099 16300159 16300242 +PA165450193 100423006 HGNC:38214 ENSG00000266454 microRNA 3179-3 MIR3179-3 hsa-mir-3179-3 Yes No Ensembl:ENSG00000266454, HGNC:HGNC:38214, NCBI Gene:100423006, RefSeq RNA:NR_036145 No chr16 18505751 18505834 18411894 18411977 +PA165450194 100422870 HGNC:38382 ENSG00000265537 microRNA 3180-1 MIR3180-1 hsa-mir-3180-1 Yes No Ensembl:ENSG00000265537, HGNC:HGNC:38382, NCBI Gene:100422870, RefSeq RNA:NR_036141 No chr16 15005077 15005170 14911220 14911313 +PA165450195 100422956 HGNC:38343 ENSG00000265373 microRNA 3180-2 MIR3180-2 hsa-mir-3180-2 Yes No Ensembl:ENSG00000265373, HGNC:HGNC:38343, NCBI Gene:100422956, RefSeq RNA:NR_036142 No chr16 16403736 16403823 16309879 16309966 +PA165450196 100422836 HGNC:38239 ENSG00000266291 microRNA 3180-3 MIR3180-3 hsa-mir-3180-3 Yes No Ensembl:ENSG00000266291, HGNC:HGNC:38239, NCBI Gene:100422836, RefSeq RNA:NR_036144 No chr16 18496035 18496128 18402178 18402271 +PA165450197 100422972 HGNC:38378 ENSG00000264947 microRNA 3181 MIR3181 hsa-mir-3181 Yes No Ensembl:ENSG00000264947, HGNC:HGNC:38378, NCBI Gene:100422972 No chr16 +PA165450198 100422853 HGNC:38317 ENSG00000263785 microRNA 3182 MIR3182 hsa-mir-3182 Yes No Ensembl:ENSG00000263785, HGNC:HGNC:38317, NCBI Gene:100422853, RefSeq RNA:NR_036147 No chr16 83541951 83542013 83508346 83508408 +PA165432120 100422835 HGNC:38237 ENSG00000264429 microRNA 3183 MIR3183 hsa-mir-3183 Yes No Ensembl:ENSG00000264429, HGNC:HGNC:38237, NCBI Gene:100422835, RefSeq RNA:NR_036148 No chr17 925716 925799 1022476 1022559 +PA165432121 100423003 HGNC:38182 ENSG00000284399 microRNA 3184 MIR3184 hsa-mir-3184 Yes No Ensembl:ENSG00000284399, HGNC:HGNC:38182, NCBI Gene:100423003, RefSeq RNA:NR_036149 No chr17 28444104 28444178 30117086 30117160 +PA165432122 100422978 HGNC:38391 ENSG00000263602 microRNA 3185 MIR3185 hsa-mir-3185 Yes No Ensembl:ENSG00000263602, HGNC:HGNC:38391, NCBI Gene:100422978, RefSeq RNA:NR_036150 No chr17 46801770 46801837 48724408 48724475 +PA165432123 100422944 HGNC:38311 ENSG00000266189 microRNA 3186 MIR3186 hsa-mir-3186 Yes No Ensembl:ENSG00000266189, HGNC:HGNC:38311, NCBI Gene:100422944, RefSeq RNA:NR_036152 No chr17 79418130 79418214 81451104 81451188 +PA165393756 100422854 HGNC:38319 ENSG00000263414 microRNA 3187 MIR3187 hsa-mir-3187 Yes No Ensembl:ENSG00000263414, HGNC:HGNC:38319, NCBI Gene:100422854, RefSeq RNA:NR_036154 No chr19 813584 813653 813584 813653 +PA165393757 100422833 HGNC:38226 ENSG00000267959 microRNA 3188 MIR3188 hsa-mir-3188 Yes No Ensembl:ENSG00000267959, HGNC:HGNC:38226, NCBI Gene:100422833, RefSeq RNA:NR_036155 No chr19 18392887 18392971 18282077 18282161 +PA165393774 100422943 HGNC:38307 ENSG00000264175 microRNA 3189 MIR3189 hsa-mir-3189 Yes No Ensembl:ENSG00000264175, HGNC:HGNC:38307, NCBI Gene:100422943, RefSeq RNA:NR_036156 No chr19 18497372 18497444 18386562 18386634 +PA165393775 100422899 HGNC:38190 ENSG00000265134 microRNA 3190 MIR3190 hsa-mir-3190 Yes No Ensembl:ENSG00000265134, HGNC:HGNC:38190, NCBI Gene:100422899, RefSeq RNA:NR_036158 No chr19 47730199 47730278 47226942 47227021 +PA165393782 100422832 HGNC:38222 ENSG00000284411 microRNA 3191 MIR3191 hsa-mir-3191 Yes No Ensembl:ENSG00000284411, HGNC:HGNC:38222, NCBI Gene:100422832, RefSeq RNA:NR_036159 No chr19 47730201 47730276 47226944 47227019 +PA165392396 100422875 HGNC:38202 ENSG00000265137 microRNA 3192 MIR3192 hsa-mir-3192 Yes No Ensembl:ENSG00000265137, HGNC:HGNC:38202, NCBI Gene:100422875, RefSeq RNA:NR_036160 No chr20 18451259 18451335 18470615 18470691 +PA165392397 100422904 HGNC:38204 ENSG00000264395 microRNA 3193 MIR3193 hsa-mir-3193 Yes No Ensembl:ENSG00000264395, HGNC:HGNC:38204, NCBI Gene:100422904, RefSeq RNA:NR_036161 No chr20 30194989 30195043 31607186 31607240 +PA165392398 100422889 HGNC:38346 ENSG00000266761 microRNA 3194 MIR3194 hsa-mir-3194 Yes No Ensembl:ENSG00000266761, HGNC:HGNC:38346, NCBI Gene:100422889, RefSeq RNA:NR_036162 No chr20 50069442 50069514 51452905 51452977 +PA165392399 100422838 HGNC:38250 ENSG00000265306 microRNA 3195 MIR3195 hsa-mir-3195 Yes No Ensembl:ENSG00000265306, HGNC:HGNC:38250, NCBI Gene:100422838 No chr20 +PA165392400 100423014 HGNC:38198 ENSG00000266463 microRNA 3196 MIR3196 hsa-mir-3196 Yes No Ensembl:ENSG00000266463, HGNC:HGNC:38198, NCBI Gene:100423014, RefSeq RNA:NR_036163 No chr20 61870131 61870194 63238779 63238842 +PA165378432 100423023 HGNC:38366 ENSG00000263681 microRNA 3197 MIR3197 hsa-mir-3197 Yes No Ensembl:ENSG00000263681, HGNC:HGNC:38366, NCBI Gene:100423023, RefSeq RNA:NR_036167 No chr21 42539484 42539556 41167557 41167629 +PA165378344 100423025 HGNC:38236 ENSG00000264757 microRNA 3198-1 MIR3198-1 hsa-mir-3198-1 Yes No Ensembl:ENSG00000264757, HGNC:HGNC:38236, NCBI Gene:100423025, RefSeq RNA:NR_036168 No chr22 18246946 18247025 17764180 17764259 +PA165378345 100423034 HGNC:38294 ENSG00000264073 microRNA 3199-1 MIR3199-1 hsa-mir-3199-1 Yes No Ensembl:ENSG00000264073, HGNC:HGNC:38294, NCBI Gene:100423034, RefSeq RNA:NR_036169 No chr22 28316513 28316600 27920525 27920612 +PA165378346 100422998 HGNC:38205 ENSG00000283225 microRNA 3199-2 MIR3199-2 hsa-mir-3199-2 Yes No Ensembl:ENSG00000283225, HGNC:HGNC:38205, NCBI Gene:100422998, RefSeq RNA:NR_036170 No chr22 28316514 28316599 27920526 27920611 +PA164722648 407036 HGNC:31631 ENSG00000207698 microRNA 32 MIR32 hsa-mir-32 Yes No Ensembl:ENSG00000207698, GeneCard:MIR32, HGNC:HGNC:31631, NCBI Gene:407036, OMIM:609355, RefSeq DNA:NT_008470, RefSeq RNA:NR_029506 No chr9 111808509 111808578 109046229 109046298 +PA165378347 100422912 HGNC:38227 ENSG00000264661 microRNA 3200 MIR3200 hsa-mir-3200 Yes No Ensembl:ENSG00000264661, HGNC:HGNC:38227, NCBI Gene:100422912, RefSeq RNA:NR_036171 No chr22 31127544 31127628 30731557 30731641 +PA165378348 100422916 HGNC:38235 ENSG00000266508 microRNA 3201 MIR3201 hsa-mir-3201 Yes No Ensembl:ENSG00000266508, HGNC:HGNC:38235, NCBI Gene:100422916, RefSeq RNA:NR_036172 No chr22 48670176 48670227 48274364 48274415 +PA165756920 100422987 HGNC:38224 ENSG00000265176 microRNA 3202-1 MIR3202-1 hsa-mir-3202-1 Yes No Ensembl:ENSG00000265176, HGNC:HGNC:38224, NCBI Gene:100422987, RefSeq RNA:NR_036174 No chrX 153246548 153246628 153981097 153981177 +PA165756929 100422877 HGNC:38228 ENSG00000283694 microRNA 3202-2 MIR3202-2 hsa-mir-3202-2 Yes No Ensembl:ENSG00000283694, HGNC:HGNC:38228, NCBI Gene:100422877, RefSeq RNA:NR_036175 No chrX 153246549 153246627 153981098 153981176 +PA164722649 407037 HGNC:31632 ENSG00000208037 microRNA 320a MIR320A hsa-mir-320 Yes No Ensembl:ENSG00000208037, GeneCard:MIR320A, HGNC:HGNC:31632, NCBI Gene:407037, RefSeq DNA:NT_023666, RefSeq DNA:NT_167187, RefSeq RNA:NR_029714 No chr8 22102475 22102556 22244962 22245043 +PA164722650 100302117 HGNC:35247 ENSG00000211543 microRNA 320b-1 MIR320B1 hsa-mir-320b-1 Yes No Ensembl:ENSG00000211543, HGNC:HGNC:35247, NCBI Gene:100302117 No chr1 117214371 117214449 116671749 116671827 +PA164722651 100313769 HGNC:35256 ENSG00000221406 microRNA 320b-2 MIR320B2 hsa-mir-320b-2 Yes No Ensembl:ENSG00000221406, HGNC:HGNC:35256, NCBI Gene:100313769 No chr1 224444706 224444843 224257004 224257141 +PA164722652 100302135 HGNC:35248 ENSG00000221493 microRNA 320c-1 MIR320C1 hsa-mir-320c-1 Yes No Ensembl:ENSG00000221493, HGNC:HGNC:35248, NCBI Gene:100302135 No chr18 19263471 19263558 21683510 21683597 +PA164722653 100302195 HGNC:35387 ENSG00000212051 microRNA 320c-2 MIR320C2 hsa-mir-320c-2 Yes No Ensembl:ENSG00000212051, HGNC:HGNC:35387, NCBI Gene:100302195 No chr18 21901650 21901699 24321686 24321735 +PA164722654 100313896 HGNC:35386 ENSG00000211491 microRNA 320d-1 MIR320D1 hsa-mir-320d-1 Yes No Ensembl:ENSG00000211491, HGNC:HGNC:35386, NCBI Gene:100313896 No chr13 41301964 41302011 40727828 40727875 +PA164722655 100302169 HGNC:35388 ENSG00000221081 microRNA 320d-2 MIR320D2 hsa-mir-320d-2 Yes No Ensembl:ENSG00000221081, HGNC:HGNC:35388, NCBI Gene:100302169 No chrX 140008337 140008384 140926172 140926219 +PA165393783 100422913 HGNC:38230 ENSG00000211513 microRNA 320e MIR320E hsa-mir-320e Yes No Ensembl:ENSG00000211513, HGNC:HGNC:38230, NCBI Gene:100422913, RefSeq RNA:NR_036157 No chr19 47212550 47212602 46709293 46709345 +PA164722656 442897 HGNC:31766 ENSG00000199069 microRNA 323a MIR323A hsa-mir-323 Yes No Ensembl:ENSG00000199069, GeneCard:MIR323A, HGNC:HGNC:31766, NCBI Gene:442897, RefSeq DNA:NT_026437, RefSeq RNA:NR_029890 No chr14 101492069 101492154 101025732 101025817 +PA165479179 574410 HGNC:38349 ENSG00000208004 microRNA 323b MIR323B hsa-mir-323b, hsa-mir-453 Yes No Ensembl:ENSG00000208004, HGNC:HGNC:38349, NCBI Gene:574410, RefSeq DNA:NT_026437, RefSeq RNA:NR_036133 No chr14 101522556 101522637 101056219 101056300 +PA164722657 442898 HGNC:31767 ENSG00000199053 microRNA 324 MIR324 hsa-mir-324 Yes No Ensembl:ENSG00000199053, GeneCard:MIR324, HGNC:HGNC:31767, NCBI Gene:442898, RefSeq DNA:NT_010718, RefSeq RNA:NR_029896 No chr17 7126616 7126698 7223297 7223379 +PA164722658 442899 HGNC:31768 ENSG00000207995 microRNA 325 MIR325 hsa-mir-325 Yes No Ensembl:ENSG00000207995, GeneCard:MIR325, HGNC:HGNC:31768, NCBI Gene:442899, RefSeq DNA:NT_011669, RefSeq RNA:NR_029905 No chrX 76225829 76225926 77005404 77005501 +PA164722659 442900 HGNC:31769 ENSG00000199090 microRNA 326 MIR326 hsa-mir-326 Yes No Ensembl:ENSG00000199090, GeneCard:MIR326, HGNC:HGNC:31769, NCBI Gene:442900, RefSeq DNA:NT_167190, RefSeq RNA:NR_029891 No chr11 75046136 75046230 75335092 75335186 +PA164722660 442901 HGNC:31770 ENSG00000207948 microRNA 328 MIR328 hsa-mir-328 Yes No Ensembl:ENSG00000207948, GeneCard:MIR328, HGNC:HGNC:31770, NCBI Gene:442901, RefSeq DNA:NT_010498, RefSeq RNA:NR_029887 No chr16 67236224 67236298 67202321 67202395 +PA164722661 574408 HGNC:32050 ENSG00000207761 microRNA 329-1 MIR329-1 hsa-mir-329-1 Yes No Ensembl:ENSG00000207761, GeneCard:MIR329-1, HGNC:HGNC:32050, NCBI Gene:574408, RefSeq DNA:NT_026437, RefSeq RNA:NR_029967 No chr14 101493122 101493201 101026785 101026864 +PA164722662 574409 HGNC:32051 ENSG00000207762 microRNA 329-2 MIR329-2 hsa-mir-329-2 Yes No Ensembl:ENSG00000207762, GeneCard:MIR329-2, HGNC:HGNC:32051, NCBI Gene:574409, RefSeq DNA:NT_026437, RefSeq RNA:NR_029968 No chr14 101493437 101493520 101027100 101027183 +PA164722663 442902 HGNC:31771 ENSG00000284544 microRNA 330 MIR330 hsa-mir-330 Yes No Ensembl:ENSG00000284544, GeneCard:MIR330, HGNC:HGNC:31771, NCBI Gene:442902, RefSeq DNA:NT_011109, RefSeq RNA:NR_029886 No chr19 46142252 46142345 45638994 45639087 +PA164722664 442903 HGNC:31772 ENSG00000199172 microRNA 331 MIR331 hsa-mir-331 Yes No Ensembl:ENSG00000199172, GeneCard:MIR331, HGNC:HGNC:31772, NCBI Gene:442903, RefSeq DNA:NT_029419, RefSeq RNA:NR_029895 No chr12 95702196 95702289 95308420 95308513 +PA164722665 442904 HGNC:31773 ENSG00000199043 microRNA 335 MIR335 hsa-mir-335 Yes Yes Ensembl:ENSG00000199043, GeneCard:MIR335, HGNC:HGNC:31773, NCBI Gene:442904, OMIM:611768, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_029899 No chr7 130135952 130136045 130496111 130496204 +PA164722666 442905 HGNC:31774 ENSG00000199151 microRNA 337 MIR337 hsa-mir-337 Yes No Ensembl:ENSG00000199151, GeneCard:MIR337, HGNC:HGNC:31774, NCBI Gene:442905, RefSeq DNA:NT_026437, RefSeq RNA:NR_029889 No chr14 101340830 101340922 100874493 100874585 +PA164722667 442906 HGNC:31775 ENSG00000283604 microRNA 338 MIR338 hsa-mir-338 Yes No Ensembl:ENSG00000283604, GeneCard:MIR338, HGNC:HGNC:31775, NCBI Gene:442906, RefSeq DNA:NT_010783, RefSeq RNA:NR_029897 No chr17 79099683 79099749 81125883 81125949 +PA164722668 442907 HGNC:31776 ENSG00000199023 microRNA 339 MIR339 hsa-mir-339 Yes No Ensembl:ENSG00000199023, GeneCard:MIR339, HGNC:HGNC:31776, NCBI Gene:442907, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_029898 No chr7 1062569 1062662 1022933 1023026 +PA164722669 407039 HGNC:31634 ENSG00000207932 microRNA 33a MIR33A hsa-mir-33, hsa-mir-33a Yes No Ensembl:ENSG00000207932, GeneCard:MIR33A, HGNC:HGNC:31634, NCBI Gene:407039, OMIM:612156, RefSeq DNA:NT_011520, RefSeq RNA:NR_029507 No chr22 42296948 42297016 41900944 41901012 +PA164722670 693120 HGNC:32791 ENSG00000207839 microRNA 33b MIR33B hsa-mir-33b Yes No Ensembl:ENSG00000207839, GeneCard:MIR33B, HGNC:HGNC:32791, NCBI Gene:693120, OMIM:613486, RefSeq DNA:NT_010718, RefSeq RNA:NR_030361 No chr17 17717150 17717245 17813836 17813931 +PA164722671 442908 HGNC:31777 ENSG00000198995 microRNA 340 MIR340 hsa-mir-340 Yes No Ensembl:ENSG00000198995, GeneCard:MIR340, HGNC:HGNC:31777, NCBI Gene:442908, RefSeq DNA:NT_023133, RefSeq RNA:NR_029885 No chr5 179442303 179442397 180015303 180015397 +PA164722672 442909 HGNC:31778 ENSG00000199082 microRNA 342 MIR342 hsa-mir-342 Yes No Ensembl:ENSG00000199082, GeneCard:MIR342, HGNC:HGNC:31778, NCBI Gene:442909, RefSeq DNA:NT_026437, RefSeq RNA:NR_029888 No chr14 100575992 100576090 100109655 100109753 +PA164722673 442910 HGNC:31779 ENSG00000198984 microRNA 345 MIR345 hsa-mir-345 Yes No Ensembl:ENSG00000198984, GeneCard:MIR345, HGNC:HGNC:31779, NCBI Gene:442910, RefSeq DNA:NT_026437, RefSeq RNA:NR_029906 No chr14 100774196 100774293 100307859 100307956 +PA164722674 442911 HGNC:31780 ENSG00000199104 microRNA 346 MIR346 hsa-mir-346 Yes No Ensembl:ENSG00000199104, GeneCard:MIR346, HGNC:HGNC:31780, NCBI Gene:442911, OMIM:611190, RefSeq DNA:NT_030059, RefSeq RNA:NR_029907 No chr10 88024451 88024545 86264694 86264788 +PA164722675 407040 HGNC:31635 ENSG00000284357 microRNA 34a MIR34A hsa-mir-34a Yes No Ensembl:ENSG00000284357, GeneCard:MIR34A, HGNC:HGNC:31635, NCBI Gene:407040, OMIM:611172, RefSeq DNA:NT_021937, RefSeq RNA:NR_029610 No chr1 9211727 9211836 9151668 9151777 +PA164722676 407041 HGNC:31636 ENSG00000207811 microRNA 34b MIR34B hsa-mir-34b Yes No Ensembl:ENSG00000207811, GeneCard:MIR34B, HGNC:HGNC:31636, NCBI Gene:407041, OMIM:611374, RefSeq DNA:NT_033899, RefSeq RNA:NR_029839 No chr11 111383663 111383746 111512938 111513021 +PA164722677 407042 HGNC:31637 ENSG00000207562 microRNA 34c MIR34C hsa-mir-34c Yes No Ensembl:ENSG00000207562, GeneCard:MIR34C, HGNC:HGNC:31637, NCBI Gene:407042, OMIM:611375, RefSeq DNA:NT_033899, RefSeq RNA:NR_029840 No chr11 111384164 111384240 111513439 111513515 +PA164722678 494323 HGNC:31867 ENSG00000199051 microRNA 361 MIR361 hsa-mir-361 Yes No Ensembl:ENSG00000199051, GeneCard:MIR361, HGNC:HGNC:31867, NCBI Gene:494323, RefSeq RNA:NR_029848 No chrX 85158641 85158712 85903636 85903707 +PA164722679 574030 HGNC:32022 ENSG00000208015 microRNA 362 MIR362 hsa-mir-362 Yes No Ensembl:ENSG00000208015, GeneCard:MIR362, HGNC:HGNC:32022, NCBI Gene:574030, RefSeq DNA:NT_086939, RefSeq RNA:NR_029850 No chrX 49773572 49773636 50008964 50009028 +PA164722680 574031 HGNC:32023 ENSG00000284499 microRNA 363 MIR363 MIR-363, hsa-mir-363 Yes No Ensembl:ENSG00000284499, GeneCard:MIR363, HGNC:HGNC:32023, NCBI Gene:574031, RefSeq DNA:NT_011786, RefSeq RNA:NR_029852 No chrX 133303408 133303482 134169378 134169452 +PA164722681 100126355 HGNC:33692 ENSG00000199130 microRNA 365a MIR365A hsa-mir-365-1 Yes No Ensembl:ENSG00000199130, GeneCard:MIR365A, HGNC:HGNC:33692, NCBI Gene:100126355, RefSeq DNA:NT_010393, RefSeq RNA:NR_029854 No chr16 14403142 14403228 14309285 14309371 +PA164722682 100126356 HGNC:33693 ENSG00000283978 microRNA 365b MIR365B hsa-mir-365-2 Yes No Ensembl:ENSG00000283978, GeneCard:MIR365B, HGNC:HGNC:33693, NCBI Gene:100126356, RefSeq DNA:NT_010799, RefSeq RNA:NR_029856 No chr17 29902430 29902540 31575411 31575521 +PA164722683 442912 HGNC:31781 ENSG00000199169 microRNA 367 MIR367 hsa-mir-367 Yes No Ensembl:ENSG00000199169, GeneCard:MIR367, HGNC:HGNC:31781, NCBI Gene:442912, RefSeq DNA:NT_016354, RefSeq RNA:NR_029860 No chr4 113569030 113569097 112647874 112647941 +PA164722684 442914 HGNC:31783 ENSG00000199025 microRNA 369 MIR369 hsa-mir-369 Yes No Ensembl:ENSG00000199025, GeneCard:MIR369, HGNC:HGNC:31783, NCBI Gene:442914, OMIM:611794, RefSeq DNA:NT_026437, RefSeq RNA:NR_029862 No chr14 101531935 101532004 101065598 101065667 +PA164722685 442915 HGNC:31784 ENSG00000199005 microRNA 370 MIR370 hsa-mir-370 Yes No Ensembl:ENSG00000199005, GeneCard:MIR370, HGNC:HGNC:31784, NCBI Gene:442915, OMIM:612553, RefSeq DNA:NT_026437, RefSeq RNA:NR_029863 No chr14 101377476 101377550 100911139 100911213 +PA164722686 442916 HGNC:31785 ENSG00000199031 microRNA 371a MIR371A hsa-mir-371 Yes No Ensembl:ENSG00000199031, GeneCard:MIR371A, HGNC:HGNC:31785, NCBI Gene:442916, OMIM:612043, RefSeq DNA:NT_011109, RefSeq RNA:NR_029864 No chr19 54290929 54290995 53787675 53787741 +PA164722687 442917 HGNC:31786 ENSG00000199095 microRNA 372 MIR372 hsa-mir-372 Yes No Ensembl:ENSG00000199095, GeneCard:MIR372, HGNC:HGNC:31786, NCBI Gene:442917, OMIM:612044, RefSeq DNA:NT_011109, RefSeq RNA:NR_029865 No chr19 54291144 54291210 53787890 53787956 +PA164722688 442918 HGNC:31787 ENSG00000199143 microRNA 373 MIR373 hsa-mir-373 Yes No Ensembl:ENSG00000199143, GeneCard:MIR373, HGNC:HGNC:31787, NCBI Gene:442918, OMIM:611954, RefSeq DNA:NT_011109, RefSeq RNA:NR_029866 No chr19 54291959 54292027 53788705 53788773 +PA164722689 442919 HGNC:31788 ENSG00000199168 microRNA 374a MIR374A hsa-mir-374, hsa-mir-374a Yes No Ensembl:ENSG00000199168, GeneCard:MIR374A, HGNC:HGNC:31788, NCBI Gene:442919, RefSeq DNA:NT_011669, RefSeq RNA:NR_030785 No chrX 73507121 73507192 74287286 74287357 +PA164722690 100126317 HGNC:33665 ENSG00000212027 microRNA 374b MIR374B hsa-mir-374b Yes No Ensembl:ENSG00000212027, GeneCard:MIR374B, HGNC:HGNC:33665, NCBI Gene:100126317, RefSeq DNA:NT_011669, RefSeq RNA:NR_030620 No chrX 73438382 73438453 74218547 74218618 +PA164722691 494324 HGNC:31868 ENSG00000198973 microRNA 375 MIR375 hsa-mir-375 Yes No Ensembl:ENSG00000198973, GeneCard:MIR375, HGNC:HGNC:31868, NCBI Gene:494324, OMIM:611173, RefSeq DNA:NT_005403, RefSeq RNA:NR_029867 No chr2 219866367 219866430 219001645 219001708 +PA164722692 494325 HGNC:31869 ENSG00000283588 microRNA 376a-1 MIR376A1 hsa-mir-376a, hsa-mir-376a-1 Yes No Ensembl:ENSG00000283588, GeneCard:MIR376A1, HGNC:HGNC:31869, NCBI Gene:494325, OMIM:610959, RefSeq DNA:NT_026437, RefSeq RNA:NR_029868 No chr14 101507119 101507186 101040782 101040849 +PA164722693 664615 HGNC:32532 ENSG00000283561 microRNA 376a-2 MIR376A2 hsa-mir-376a-2 Yes No Ensembl:ENSG00000283561, GeneCard:MIR376A2, HGNC:HGNC:32532, NCBI Gene:664615, OMIM:610960, RefSeq DNA:NT_026437, RefSeq RNA:NR_030266 No chr14 101506406 101506485 101040069 101040148 +PA164722694 574435 HGNC:32066 ENSG00000283556 microRNA 376b MIR376B hsa-mir-376b Yes No Ensembl:ENSG00000283556, GeneCard:MIR376B, HGNC:HGNC:32066, NCBI Gene:574435, OMIM:610961, RefSeq DNA:NT_026437, RefSeq RNA:NR_030157 No chr14 101506773 101506872 101040436 101040535 +PA164722695 442913 HGNC:31782 ENSG00000283279 microRNA 376c MIR376C hsa-mir-368, hsa-mir-376c Yes No Ensembl:ENSG00000283279, GeneCard:MIR376C, HGNC:HGNC:31782, NCBI Gene:442913, OMIM:610983, RefSeq DNA:NT_026437, RefSeq RNA:NR_029861 No chr14 101506027 101506092 101039690 101039755 +PA164722696 494326 HGNC:31870 ENSG00000199015 microRNA 377 MIR377 hsa-mir-377 Yes No Ensembl:ENSG00000199015, GeneCard:MIR377, HGNC:HGNC:31870, NCBI Gene:494326, RefSeq DNA:NT_026437, RefSeq RNA:NR_029869 No chr14 101528387 101528455 101062050 101062118 +PA164722697 494327 HGNC:31871 ENSG00000199047 microRNA 378a MIR378A hsa-mir-378 Yes No Ensembl:ENSG00000199047, GeneCard:MIR378A, HGNC:HGNC:31871, NCBI Gene:494327, OMIM:611957, RefSeq DNA:NT_029289, RefSeq RNA:NR_029870 No chr5 149112388 149112453 149732825 149732890 +PA165697616 100422933 HGNC:38283 ENSG00000264534 microRNA 378b MIR378B hsa-mir-378b Yes No Ensembl:ENSG00000264534, HGNC:HGNC:38283, NCBI Gene:100422933, RefSeq RNA:NR_036084 No chr3 10371913 10371969 10330229 10330285 +PA165548834 100422867 HGNC:38374 ENSG00000264803 microRNA 378c MIR378C hsa-mir-378c Yes No Ensembl:ENSG00000264803, HGNC:HGNC:38374, NCBI Gene:100422867, RefSeq RNA:NR_036180 No chr10 132760851 132760931 130962588 130962668 +PA164722698 494328 HGNC:31872 ENSG00000199088 microRNA 379 MIR379 hsa-mir-379 Yes No Ensembl:ENSG00000199088, GeneCard:MIR379, HGNC:HGNC:31872, NCBI Gene:494328, RefSeq DNA:NT_026437, RefSeq RNA:NR_029871 No chr14 101488403 101488469 101022066 101022132 +PA164722699 494329 HGNC:31873 ENSG00000198982 microRNA 380 MIR380 hsa-mir-380 Yes No Ensembl:ENSG00000198982, GeneCard:MIR380, HGNC:HGNC:31873, NCBI Gene:494329, RefSeq DNA:NT_026437, RefSeq RNA:NR_029872 No chr14 101491354 101491414 101025017 101025077 +PA164722700 494330 HGNC:31874 ENSG00000199020 microRNA 381 MIR381 hsa-mir-381 Yes No Ensembl:ENSG00000199020, GeneCard:MIR381, HGNC:HGNC:31874, NCBI Gene:494330, RefSeq DNA:NT_026437, RefSeq RNA:NR_029873 No chr14 101512257 101512331 101045920 101045994 +PA165479206 378881 HGNC:20136 ENSG00000258861 MIR381 host gene (non-protein coding) MIR381HG non-protein coding RNA 225 NCRNA00225 Yes No Ensembl:ENSG00000258861, GeneCard:NCRNA00225, HGNC:HGNC:20136, NCBI Gene:378881 No chr14 +PA164722701 494331 HGNC:31875 ENSG00000283170 microRNA 382 MIR382 hsa-mir-382 Yes No Ensembl:ENSG00000283170, GeneCard:MIR382, HGNC:HGNC:31875, NCBI Gene:494331, RefSeq DNA:NT_026437, RefSeq RNA:NR_029874 No chr14 101520643 101520718 101054306 101054381 +PA164722702 494332 HGNC:31876 ENSG00000199127 microRNA 383 MIR383 hsa-mir-383 Yes No Ensembl:ENSG00000199127, GeneCard:MIR383, HGNC:HGNC:31876, NCBI Gene:494332, RefSeq DNA:NT_167187, RefSeq RNA:NR_029875 No chr8 14710947 14711019 14853438 14853510 +PA164722703 494333 HGNC:31878 ENSG00000283242 microRNA 384 MIR384 hsa-mir-384 Yes No Ensembl:ENSG00000283242, GeneCard:MIR384, HGNC:HGNC:31878, NCBI Gene:494333, RefSeq DNA:NT_011669, RefSeq RNA:NR_029909 No chrX 76139698 76139785 76919273 76919360 +PA164722704 574413 HGNC:32055 ENSG00000199107 microRNA 409 MIR409 hsa-mir-409 Yes No Ensembl:ENSG00000199107, GeneCard:MIR409, HGNC:HGNC:32055, NCBI Gene:574413, RefSeq DNA:NT_026437, RefSeq RNA:NR_029975 No chr14 101531637 101531715 101065300 101065378 +PA164722705 574434 HGNC:32065 ENSG00000199092 microRNA 410 MIR410 hsa-mir-410 Yes No Ensembl:ENSG00000199092, GeneCard:MIR410, HGNC:HGNC:32065, NCBI Gene:574434, RefSeq DNA:NT_026437, RefSeq RNA:NR_030156 No chr14 101532249 101532328 101065912 101065991 +PA164722706 693121 HGNC:32792 ENSG00000199109 microRNA 411 MIR411 hsa-mir-411 Yes Yes Ensembl:ENSG00000199109, GeneCard:MIR411, HGNC:HGNC:32792, NCBI Gene:693121, RefSeq DNA:NT_026437, RefSeq RNA:NR_030389 No chr14 101489662 101489757 101023325 101023420 +PA164722707 574433 HGNC:32064 ENSG00000199012 microRNA 412 MIR412 hsa-mir-412 Yes No Ensembl:ENSG00000199012, GeneCard:MIR412, HGNC:HGNC:32064, NCBI Gene:574433, RefSeq DNA:NT_026437, RefSeq RNA:NR_030155 No chr14 101531784 101531874 101065447 101065537 +PA164722708 693122 HGNC:32793 ENSG00000202566 microRNA 421 MIR421 hsa-mir-421 Yes No Ensembl:ENSG00000202566, GeneCard:MIR421, HGNC:HGNC:32793, NCBI Gene:693122, RefSeq DNA:NT_011669, RefSeq RNA:NR_030398 No chrX 73438212 73438296 74218377 74218461 +PA164722709 494334 HGNC:31879 ENSG00000199156 microRNA 422a MIR422A hsa-mir-422a Yes No Ensembl:ENSG00000199156, GeneCard:MIR422A, HGNC:HGNC:31879, NCBI Gene:494334, RefSeq DNA:NT_010194, RefSeq RNA:NR_029944 No chr15 64163129 64163218 63870930 63871019 +PA164722710 494335 HGNC:31880 ENSG00000283935 microRNA 423 MIR423 hsa-mir-423 Yes Yes Ensembl:ENSG00000283935, GeneCard:MIR423, HGNC:HGNC:31880, NCBI Gene:494335, RefSeq DNA:NT_010799, RefSeq RNA:NR_029945 No chr17 28444097 28444190 30117079 30117172 +PA164722711 494336 HGNC:31881 ENSG00000284231 microRNA 424 MIR424 hsa-mir-424 Yes No Ensembl:ENSG00000284231, GeneCard:MIR424, HGNC:HGNC:31881, NCBI Gene:494336, OMIM:300682, RefSeq DNA:NT_011786, RefSeq RNA:NR_029946 No chrX 133680644 133680741 134546614 134546711 +PA164722712 494337 HGNC:31882 ENSG00000199032 microRNA 425 MIR425 hsa-mir-425 Yes No Ensembl:ENSG00000199032, GeneCard:MIR425, HGNC:HGNC:31882, NCBI Gene:494337, RefSeq DNA:NT_022517, RefSeq RNA:NR_029948 No chr3 49057581 49057667 49020148 49020234 +PA165751674 100422968 HGNC:38370 ENSG00000283572 microRNA 4251 MIR4251 hsa-mir-4251 Yes No Ensembl:ENSG00000283572, HGNC:HGNC:38370, NCBI Gene:100422968, RefSeq RNA:NR_036215 No chr1 3044539 3044599 3127975 3128035 +PA165751675 100422975 HGNC:38384 ENSG00000265392 microRNA 4252 MIR4252 hsa-mir-4252 Yes No Ensembl:ENSG00000265392, HGNC:HGNC:38384, NCBI Gene:100422975, RefSeq RNA:NR_036218 No chr1 6489894 6489956 6429834 6429896 +PA165751676 100422914 HGNC:38231 ENSG00000264014 microRNA 4253 MIR4253 hsa-mir-4253 Yes No Ensembl:ENSG00000264014, HGNC:HGNC:38231, NCBI Gene:100422914, RefSeq RNA:NR_036214 No chr1 23189652 23189719 22863159 22863226 +PA165751677 100423028 HGNC:38193 ENSG00000266580 microRNA 4254 MIR4254 hsa-mir-4254 Yes No Ensembl:ENSG00000266580, HGNC:HGNC:38193, NCBI Gene:100423028, RefSeq RNA:NR_036216 No chr1 32224261 32224336 31758660 31758735 +PA165751678 100422898 HGNC:38187 ENSG00000264698 microRNA 4255 MIR4255 hsa-mir-4255 Yes No Ensembl:ENSG00000264698, HGNC:HGNC:38187, NCBI Gene:100422898, RefSeq RNA:NR_036217 No chr1 37627164 37627235 37161563 37161634 +PA165751679 100422976 HGNC:38388 ENSG00000283296 microRNA 4256 MIR4256 hsa-mir-4256 Yes No Ensembl:ENSG00000283296, HGNC:HGNC:38388, NCBI Gene:100422976, RefSeq RNA:NR_036210 No chr1 113004392 113004455 112461770 112461833 +PA165751778 100422997 HGNC:38312 ENSG00000264553 microRNA 4257 MIR4257 hsa-mir-4257 Yes No Ensembl:ENSG00000264553, HGNC:HGNC:38312, NCBI Gene:100422997, RefSeq RNA:NR_036211 No chr1 150524405 150524490 150551929 150552014 +PA165751779 100423020 HGNC:38281 ENSG00000264349 microRNA 4258 MIR4258 hsa-mir-4258 Yes No Ensembl:ENSG00000264349, HGNC:HGNC:38281, NCBI Gene:100423020, RefSeq RNA:NR_036212 No chr1 154948169 154948259 154975693 154975783 +PA165751780 100422852 HGNC:38309 ENSG00000266458 microRNA 4259 MIR4259 hsa-mir-4259 Yes No Ensembl:ENSG00000266458, HGNC:HGNC:38309, NCBI Gene:100422852 No chr1 +PA165751803 100422894 HGNC:38179 ENSG00000283876 microRNA 4260 MIR4260 hsa-mir-4260 Yes No Ensembl:ENSG00000283876, HGNC:HGNC:38179, NCBI Gene:100422894, RefSeq RNA:NR_036213 No chr1 209796789 209796855 209623444 209623510 +PA165696817 100422929 HGNC:38272 ENSG00000265418 microRNA 4261 MIR4261 hsa-mir-4261 Yes No Ensembl:ENSG00000265418, HGNC:HGNC:38272, NCBI Gene:100422929, RefSeq RNA:NR_036222 No chr2 10332740 10332797 10192614 10192671 +PA165696818 100422996 HGNC:38308 ENSG00000265172 microRNA 4262 MIR4262 hsa-mir-4262 Yes No Ensembl:ENSG00000265172, HGNC:HGNC:38308, NCBI Gene:100422996, RefSeq RNA:NR_036226 No chr2 11977059 11977112 11836933 11836986 +PA165696820 100422965 HGNC:38365 ENSG00000265321 microRNA 4263 MIR4263 hsa-mir-4263 Yes No Ensembl:ENSG00000265321, HGNC:HGNC:38365, NCBI Gene:100422965, RefSeq RNA:NR_036230 No chr2 28219234 28219316 27996367 27996449 +PA165696821 100422888 HGNC:38338 ENSG00000266436 microRNA 4264 MIR4264 hsa-mir-4264 Yes No Ensembl:ENSG00000266436, HGNC:HGNC:38338, NCBI Gene:100422888, RefSeq RNA:NR_036231 No chr2 79876420 79876485 79649294 79649359 +PA165696842 100422863 HGNC:38358 ENSG00000264934 microRNA 4265 MIR4265 hsa-mir-4265 Yes No Ensembl:ENSG00000264934, HGNC:HGNC:38358, NCBI Gene:100422863, RefSeq RNA:NR_036223 No chr2 109757946 109758044 109141490 109141588 +PA165696844 100423027 HGNC:38175 ENSG00000265965 microRNA 4266 MIR4266 hsa-mir-4266 Yes No Ensembl:ENSG00000265965, HGNC:HGNC:38175, NCBI Gene:100423027, RefSeq RNA:NR_036224 No chr2 109930027 109930081 109313571 109313625 +PA165696845 100422994 HGNC:38286 ENSG00000265682 microRNA 4267 MIR4267 hsa-mir-4267 Yes No Ensembl:ENSG00000265682, HGNC:HGNC:38286, NCBI Gene:100422994, RefSeq RNA:NR_036225 No chr2 110827538 110827619 110069961 110070042 +PA165696875 100422959 HGNC:38352 ENSG00000266518 microRNA 4268 MIR4268 hsa-mir-4268 Yes Yes Ensembl:ENSG00000266518, HGNC:HGNC:38352, NCBI Gene:100422959, RefSeq RNA:NR_036228 No chr2 220771223 220771286 219906502 219906565 +PA165696876 100423043 HGNC:38291 ENSG00000265215 microRNA 4269 MIR4269 hsa-mir-4269 Yes No Ensembl:ENSG00000265215, HGNC:HGNC:38291, NCBI Gene:100423043, RefSeq RNA:NR_036229 No chr2 240227157 240227240 239305462 239305545 +PA165697704 100422868 HGNC:38377 ENSG00000263573 microRNA 4270 MIR4270 hsa-mir-4270 Yes No Ensembl:ENSG00000263573, HGNC:HGNC:38377, NCBI Gene:100422868, RefSeq RNA:NR_036232 No chr3 15537746 15537815 15496239 15496308 +PA165697706 100422952 HGNC:38332 ENSG00000264633 microRNA 4271 MIR4271 hsa-mir-4271 Yes No Ensembl:ENSG00000264633, HGNC:HGNC:38332, NCBI Gene:100422952, RefSeq RNA:NR_036233 No chr3 49311553 49311619 49274120 49274186 +PA165697707 100422941 HGNC:38303 ENSG00000283298 microRNA 4272 MIR4272 hsa-mir-4272 Yes No Ensembl:ENSG00000283298, HGNC:HGNC:38303, NCBI Gene:100422941, RefSeq RNA:NR_036234 No chr3 67275888 67275951 67225464 67225527 +PA165697709 100422955 HGNC:38339 ENSG00000266396 microRNA 4273 MIR4273 hsa-mir-4273 Yes No Ensembl:ENSG00000266396, HGNC:HGNC:38339, NCBI Gene:100422955, RefSeq RNA:NR_036235 No chr3 75787431 75787514 75738280 75738363 +PA165664234 100422826 HGNC:38194 ENSG00000266690 microRNA 4274 MIR4274 hsa-mir-4274 Yes No Ensembl:ENSG00000266690, HGNC:HGNC:38194, NCBI Gene:100422826, RefSeq RNA:NR_036238 No chr4 7461755 7461845 7460028 7460118 +PA165664235 100422937 HGNC:38293 ENSG00000283275 microRNA 4275 MIR4275 hsa-mir-4275 Yes No Ensembl:ENSG00000283275, HGNC:HGNC:38293, NCBI Gene:100422937, RefSeq RNA:NR_036237 No chr4 28821204 28821290 28819582 28819668 +PA165664236 100423042 HGNC:38232 ENSG00000265846 microRNA 4276 MIR4276 hsa-mir-4276 Yes No Ensembl:ENSG00000265846, HGNC:HGNC:38232, NCBI Gene:100423042, RefSeq RNA:NR_036236 No chr4 175344946 175345015 174423795 174423864 +PA165660381 100422966 HGNC:38367 ENSG00000263746 microRNA 4277 MIR4277 hsa-mir-4277 Yes No Ensembl:ENSG00000263746, HGNC:HGNC:38367, NCBI Gene:100422966, RefSeq RNA:NR_036240 No chr5 1708900 1708983 1708785 1708868 +PA165660382 100422999 HGNC:38243 ENSG00000283420 microRNA 4278 MIR4278 hsa-mir-4278 Yes Yes Ensembl:ENSG00000283420, HGNC:HGNC:38243, NCBI Gene:100422999, RefSeq RNA:NR_036242 No chr5 6827966 6828034 6827853 6827921 +PA165660383 100422874 HGNC:38195 ENSG00000266243 microRNA 4279 MIR4279 hsa-mir-4279 Yes No Ensembl:ENSG00000266243, HGNC:HGNC:38195, NCBI Gene:100422874, RefSeq RNA:NR_036241 No chr5 31936208 31936265 31936102 31936159 +PA165660384 100422887 HGNC:38334 ENSG00000265919 microRNA 4280 MIR4280 hsa-mir-4280 Yes No Ensembl:ENSG00000265919, HGNC:HGNC:38334, NCBI Gene:100422887, RefSeq RNA:NR_036243 No chr5 86410696 86410771 87114879 87114954 +PA165660385 100422962 HGNC:38357 ENSG00000266329 microRNA 4281 MIR4281 hsa-mir-4281 Yes No Ensembl:ENSG00000266329, HGNC:HGNC:38357, NCBI Gene:100422962, RefSeq RNA:NR_036239 No chr5 176056440 176056501 176629439 176629500 +PA165618125 100423005 HGNC:38189 ENSG00000266180 microRNA 4282 MIR4282 hsa-mir-4282 Yes No Ensembl:ENSG00000266180, HGNC:HGNC:38189, NCBI Gene:100423005, RefSeq RNA:NR_036244 No chr6 73677410 73677476 72967687 72967753 +PA165618158 100422917 HGNC:38238 ENSG00000264426 microRNA 4283-1 MIR4283-1 hsa-mir-4283-1 Yes No Ensembl:ENSG00000264426, HGNC:HGNC:38238, NCBI Gene:100422917, RefSeq RNA:NR_036246 No chr7 57023492 57023571 56955785 56955864 +PA165618160 100422848 HGNC:38296 ENSG00000265214 microRNA 4283-2 MIR4283-2 hsa-mir-4283-2 Yes No Ensembl:ENSG00000265214, HGNC:HGNC:38296, NCBI Gene:100422848, RefSeq RNA:NR_036270 No chr7 63081468 63081547 63621090 63621169 +PA165618161 100422948 HGNC:38322 ENSG00000265724 microRNA 4284 MIR4284 hsa-mir-4284 Yes No Ensembl:ENSG00000265724, HGNC:HGNC:38322, NCBI Gene:100422948, RefSeq RNA:NR_036247 No chr7 73125647 73125727 73711317 73711397 +PA165618163 100422858 HGNC:38337 ENSG00000264675 microRNA 4285 MIR4285 hsa-mir-4285 Yes No Ensembl:ENSG00000264675, HGNC:HGNC:38337, NCBI Gene:100422858, RefSeq RNA:NR_036245 No chr7 101936369 101936453 102293103 102293187 +PA165585711 100422982 HGNC:38186 ENSG00000263762 microRNA 4286 MIR4286 hsa-mir-4286 Yes No Ensembl:ENSG00000263762, HGNC:HGNC:38186, NCBI Gene:100422982, RefSeq RNA:NR_036248 No chr8 10524488 10524580 10666978 10667070 +PA165585714 100422828 HGNC:38208 ENSG00000265847 microRNA 4287 MIR4287 hsa-mir-4287 Yes No Ensembl:ENSG00000265847, HGNC:HGNC:38208, NCBI Gene:100422828, RefSeq RNA:NR_036249 No chr8 27743556 27743633 27886039 27886116 +PA165585715 100422903 HGNC:38203 ENSG00000265251 microRNA 4288 MIR4288 hsa-mir-4288 Yes No Ensembl:ENSG00000265251, HGNC:HGNC:38203, NCBI Gene:100422903, RefSeq RNA:NR_036250 No chr8 28362633 28362699 28505116 28505182 +PA165585859 100423015 HGNC:38278 ENSG00000265873 microRNA 4289 MIR4289 hsa-mir-4289 Yes No Ensembl:ENSG00000265873, HGNC:HGNC:38278, NCBI Gene:100423015, RefSeq RNA:NR_036252 No chr9 91360751 91360820 88745836 88745905 +PA164722713 554210 HGNC:13784 ENSG00000198976 microRNA 429 MIR429 hsa-mir-429 Yes No Ensembl:ENSG00000198976, GeneCard:MIR429, HGNC:HGNC:13784, NCBI Gene:554210, OMIM:612094, RefSeq DNA:NT_004350, RefSeq RNA:NR_029957 No chr1 1104385 1104467 1169005 1169087 +PA165585861 100422963 HGNC:38360 ENSG00000263967 microRNA 4290 MIR4290 hsa-mir-4290 Yes No Ensembl:ENSG00000263967, HGNC:HGNC:38360, NCBI Gene:100422963, RefSeq RNA:NR_036253 No chr9 92785723 92785817 90023441 90023535 +PA165585862 100422927 HGNC:38267 ENSG00000265347 microRNA 4291 MIR4291 hsa-mir-4291 Yes No Ensembl:ENSG00000265347, HGNC:HGNC:38267, NCBI Gene:100422927, RefSeq RNA:NR_036254 No chr9 96581639 96581703 93819357 93819421 +PA165585930 100422860 HGNC:38348 ENSG00000265806 microRNA 4292 MIR4292 hsa-mir-4292 Yes No Ensembl:ENSG00000265806, HGNC:HGNC:38348, NCBI Gene:100422860, RefSeq RNA:NR_036251 No chr9 139725409 139725475 136830957 136831023 +PA165548863 100422843 HGNC:38270 ENSG00000266321 microRNA 4293 MIR4293 hsa-mir-4293 Yes No Ensembl:ENSG00000266321, HGNC:HGNC:38270, NCBI Gene:100422843, RefSeq RNA:NR_036181 No chr10 14425199 14425276 14383200 14383277 +PA165548864 100422895 HGNC:38180 ENSG00000264800 microRNA 4294 MIR4294 hsa-mir-4294 Yes No Ensembl:ENSG00000264800, HGNC:HGNC:38180, NCBI Gene:100422895, RefSeq RNA:NR_036182 No chr10 50193557 50193632 48985512 48985587 +PA165548865 100422909 HGNC:38220 ENSG00000264763 microRNA 4295 MIR4295 hsa-mir-4295 Yes No Ensembl:ENSG00000264763, HGNC:HGNC:38220, NCBI Gene:100422909, RefSeq RNA:NR_036177 No chr10 114393929 114394013 112634170 112634254 +PA165548866 100423041 HGNC:38178 ENSG00000264572 microRNA 4296 MIR4296 hsa-mir-4296 Yes No Ensembl:ENSG00000264572, HGNC:HGNC:38178, NCBI Gene:100423041, RefSeq RNA:NR_036178 No chr10 126721352 126721439 125032783 125032870 +PA165548867 100422873 HGNC:38393 ENSG00000266676 microRNA 4297 MIR4297 hsa-mir-4297 Yes No Ensembl:ENSG00000266676, HGNC:HGNC:38393, NCBI Gene:100422873, RefSeq RNA:NR_036179 No chr10 131641563 131641638 129843299 129843374 +PA165543474 100423021 HGNC:38313 ENSG00000264493 microRNA 4298 MIR4298 hsa-mir-4298 Yes No Ensembl:ENSG00000264493, HGNC:HGNC:38313, NCBI Gene:100423021, RefSeq RNA:NR_036185 No chr11 1880694 1880766 1859464 1859536 +PA165543475 100423026 HGNC:38329 ENSG00000266645 microRNA 4299 MIR4299 hsa-mir-4299 Yes No Ensembl:ENSG00000266645, HGNC:HGNC:38329, NCBI Gene:100423026, RefSeq RNA:NR_036184 No chr11 11678198 11678269 11656651 11656722 +PA165543476 100422823 HGNC:38184 ENSG00000264110 microRNA 4300 MIR4300 hsa-mir-4300 Yes No Ensembl:ENSG00000264110, HGNC:HGNC:38184, NCBI Gene:100422823, RefSeq RNA:NR_036186 No chr11 81601783 81601878 81890741 81890836 +PA165543477 100422855 HGNC:38323 ENSG00000265140 microRNA 4301 MIR4301 hsa-mir-4301 Yes No Ensembl:ENSG00000265140, HGNC:HGNC:38323, NCBI Gene:100422855, RefSeq RNA:NR_036183 No chr11 113320745 113320810 113450023 113450088 +PA165512951 100422897 HGNC:38185 ENSG00000283603 microRNA 4302 MIR4302 hsa-mir-4302 Yes No Ensembl:ENSG00000283603, HGNC:HGNC:38185, NCBI Gene:100422897, RefSeq RNA:NR_036188 No chr12 26026953 26027012 25874020 25874079 +PA165512978 100422924 HGNC:38256 ENSG00000263890 microRNA 4303 MIR4303 hsa-mir-4303 Yes No Ensembl:ENSG00000263890, HGNC:HGNC:38256, NCBI Gene:100422924, RefSeq RNA:NR_036189 No chr12 98389161 98389226 97995383 97995448 +PA165512979 100422931 HGNC:38276 ENSG00000265526 microRNA 4304 MIR4304 hsa-mir-4304 Yes No Ensembl:ENSG00000265526, HGNC:HGNC:38276, NCBI Gene:100422931, RefSeq RNA:NR_036187 No chr12 123495214 123495275 123010667 123010728 +PA165505159 100422940 HGNC:38301 ENSG00000264171 microRNA 4305 MIR4305 hsa-mir-4305 Yes No Ensembl:ENSG00000264171, HGNC:HGNC:38301, NCBI Gene:100422940, RefSeq RNA:NR_036190 No chr13 40238171 40238272 39664034 39664135 +PA165505192 100422861 HGNC:38350 ENSG00000263615 microRNA 4306 MIR4306 hsa-mir-4306 Yes No Ensembl:ENSG00000263615, HGNC:HGNC:38350, NCBI Gene:100422861, RefSeq RNA:NR_036191 No chr13 100295313 100295403 99643059 99643149 +PA165479181 100423019 HGNC:38257 ENSG00000265165 microRNA 4307 MIR4307 hsa-mir-4307 Yes No Ensembl:ENSG00000265165, HGNC:HGNC:38257, NCBI Gene:100423019, RefSeq RNA:NR_036193 No chr14 27377848 27377931 26908642 26908725 +PA165479183 100422984 HGNC:38206 ENSG00000265432 microRNA 4308 MIR4308 hsa-mir-4308 Yes No Ensembl:ENSG00000265432, HGNC:HGNC:38206, NCBI Gene:100422984, RefSeq RNA:NR_036194 No chr14 55344831 55344911 54878113 54878193 +PA165479185 100422954 HGNC:38336 ENSG00000266015 microRNA 4309 MIR4309 hsa-mir-4309 Yes No Ensembl:ENSG00000266015, HGNC:HGNC:38336, NCBI Gene:100422954, RefSeq RNA:NR_036192 No chr14 103005981 103006063 102539644 102539726 +PA164722714 574038 HGNC:32027 ENSG00000208001 microRNA 431 MIR431 hsa-mir-431 Yes No Ensembl:ENSG00000208001, GeneCard:MIR431, HGNC:HGNC:32027, NCBI Gene:574038, OMIM:611708, RefSeq DNA:NT_026437, RefSeq RNA:NR_029965 No chr14 101347344 101347457 100881007 100881120 +PA165479184 100423013 HGNC:38383 ENSG00000264850 microRNA 4310 MIR4310 hsa-mir-4310 Yes No Ensembl:ENSG00000264850, HGNC:HGNC:38383, NCBI Gene:100423013, RefSeq RNA:NR_036195 No chr15 42158693 42158749 41866495 41866551 +PA165479186 100422905 HGNC:38207 ENSG00000263512 microRNA 4311 MIR4311 hsa-mir-4311 Yes No Ensembl:ENSG00000263512, HGNC:HGNC:38207, NCBI Gene:100422905, RefSeq RNA:NR_036196 No chr15 66332571 66332670 66040233 66040332 +PA165479188 100422971 HGNC:38376 ENSG00000265195 microRNA 4312 MIR4312 hsa-mir-4312 Yes No Ensembl:ENSG00000265195, HGNC:HGNC:38376, NCBI Gene:100422971, RefSeq RNA:NR_036197 No chr15 69094189 69094264 68801850 68801925 +PA165479189 100423035 HGNC:38310 ENSG00000284385 microRNA 4313 MIR4313 hsa-mir-4313 Yes No Ensembl:ENSG00000284385, HGNC:HGNC:38310, NCBI Gene:100423035, RefSeq RNA:NR_036198 No chr15 76054556 76054656 75762215 75762315 +PA165432124 100422983 HGNC:38191 ENSG00000264005 microRNA 4314 MIR4314 hsa-mir-4314 Yes No Ensembl:ENSG00000264005, HGNC:HGNC:38191, NCBI Gene:100422983, RefSeq RNA:NR_036201 No chr17 7991374 7991465 8088056 8088147 +PA165432139 100423004 HGNC:38342 ENSG00000284055 microRNA 4315-1 MIR4315-1 hsa-mir-4315-1 Yes No Ensembl:ENSG00000284055, HGNC:HGNC:38342, NCBI Gene:100423004, RefSeq RNA:NR_036199 No chr17 43552729 43552801 45475363 45475435 +PA165432140 100422961 HGNC:38356 ENSG00000284172 microRNA 4315-2 MIR4315-2 hsa-mir-4315-2 Yes No Ensembl:ENSG00000284172, HGNC:HGNC:38356, NCBI Gene:100422961, RefSeq RNA:NR_036271 No chr17 62818148 62818220 64822030 64822102 +PA165432207 100422851 HGNC:38306 ENSG00000264060 microRNA 4316 MIR4316 hsa-mir-4316 Yes No Ensembl:ENSG00000264060, HGNC:HGNC:38306, NCBI Gene:100422851, RefSeq RNA:NR_036200 No chr17 75393066 75393136 77396984 77397054 +PA165429051 100422840 HGNC:38260 ENSG00000283532 microRNA 4317 MIR4317 hsa-mir-4317 Yes No Ensembl:ENSG00000283532, HGNC:HGNC:38260, NCBI Gene:100422840, RefSeq RNA:NR_036205 No chr18 6374360 6374424 6374361 6374425 +PA165429052 100422857 HGNC:38333 ENSG00000266530 microRNA 4318 MIR4318 hsa-mir-4318 Yes No Ensembl:ENSG00000266530, HGNC:HGNC:38333, NCBI Gene:100422857, RefSeq RNA:NR_036202 No chr18 35237098 35237178 37657135 37657215 +PA165429053 100422829 HGNC:38212 ENSG00000265957 microRNA 4319 MIR4319 hsa-mir-4319 Yes No Ensembl:ENSG00000265957, HGNC:HGNC:38212, NCBI Gene:100422829, RefSeq RNA:NR_036203 No chr18 42550047 42550131 44970082 44970166 +PA164722715 574451 HGNC:32083 ENSG00000272458 microRNA 432 MIR432 hsa-mir-432 Yes No Ensembl:ENSG00000272458, GeneCard:MIR432, HGNC:HGNC:32083, NCBI Gene:574451, RefSeq DNA:NT_026437, RefSeq RNA:NR_030173 No chr14 101350820 101350913 100884483 100884576 +PA165429054 100422865 HGNC:38369 ENSG00000283343 microRNA 4320 MIR4320 hsa-mir-4320 Yes No Ensembl:ENSG00000283343, HGNC:HGNC:38369, NCBI Gene:100422865, RefSeq RNA:NR_036204 No chr18 47652869 47652933 50126499 50126563 +PA165393804 100423031 HGNC:38244 ENSG00000284272 microRNA 4321 MIR4321 hsa-mir-4321 Yes No Ensembl:ENSG00000284272, HGNC:HGNC:38244, NCBI Gene:100423031, RefSeq RNA:NR_036207 No chr19 2250638 2250717 2250639 2250718 +PA165393805 100422925 HGNC:38261 ENSG00000264266 microRNA 4322 MIR4322 hsa-mir-4322 Yes No Ensembl:ENSG00000264266, HGNC:HGNC:38261, NCBI Gene:100422925, RefSeq RNA:NR_036206 No chr19 10341089 10341161 10230413 10230485 +PA165393834 100422980 HGNC:38394 ENSG00000266226 microRNA 4323 MIR4323 hsa-mir-4323 Yes No Ensembl:ENSG00000266226, HGNC:HGNC:38394, NCBI Gene:100422980, RefSeq RNA:NR_036208 No chr19 42637597 42637665 42133445 42133513 +PA165393835 100422979 HGNC:38392 ENSG00000265407 microRNA 4324 MIR4324 hsa-mir-4324 Yes No Ensembl:ENSG00000265407, HGNC:HGNC:38392, NCBI Gene:100422979, RefSeq RNA:NR_036209 No chr19 49812054 49812125 49308797 49308868 +PA165392401 100422883 HGNC:38304 ENSG00000266666 microRNA 4325 MIR4325 hsa-mir-4325 Yes No Ensembl:ENSG00000266666, HGNC:HGNC:38304, NCBI Gene:100422883, RefSeq RNA:NR_036219 No chr20 55896558 55896647 57321502 57321591 +PA165392402 100422945 HGNC:38314 ENSG00000266104 microRNA 4326 MIR4326 hsa-mir-4326 Yes No Ensembl:ENSG00000266104, HGNC:HGNC:38314, NCBI Gene:100422945, RefSeq RNA:NR_036220 No chr20 61918160 61918218 63286808 63286866 +PA165378433 100422891 HGNC:38355 ENSG00000265007 microRNA 4327 MIR4327 hsa-mir-4327 Yes No Ensembl:ENSG00000265007, HGNC:HGNC:38355, NCBI Gene:100422891, RefSeq RNA:NR_036221 No chr21 31747612 31747696 30375294 30375378 +PA165756930 100422932 HGNC:38280 ENSG00000283622 microRNA 4328 MIR4328 hsa-mir-4328 Yes No Ensembl:ENSG00000283622, HGNC:HGNC:38280, NCBI Gene:100422932, RefSeq RNA:NR_036258 No chrX 78156691 78156746 78901194 78901249 +PA165756957 100423009 HGNC:38290 ENSG00000283775 microRNA 4329 MIR4329 hsa-mir-4329 Yes No Ensembl:ENSG00000283775, HGNC:HGNC:38290, NCBI Gene:100423009, RefSeq RNA:NR_036255 No chrX 112023946 112024016 112780718 112780788 +PA164722716 574034 HGNC:32026 ENSG00000207569 microRNA 433 MIR433 hsa-mir-433 Yes No Ensembl:ENSG00000207569, GeneCard:MIR433, HGNC:HGNC:32026, NCBI Gene:574034, OMIM:611711, RefSeq DNA:NT_026437, RefSeq RNA:NR_029966 No chr14 101348223 101348315 100881886 100881978 +PA165756958 100422930 HGNC:38273 ENSG00000265789 microRNA 4330 MIR4330 hsa-mir-4330 Yes No Ensembl:ENSG00000265789, HGNC:HGNC:38273, NCBI Gene:100422930, RefSeq RNA:NR_036256 No chrX 150336694 150336798 151168222 151168326 +PA164722717 554212 HGNC:26069 ENSG00000199001 microRNA 448 MIR448 hsa-mir-448 Yes No Ensembl:ENSG00000199001, GeneCard:MIR448, HGNC:HGNC:26069, NCBI Gene:554212, OMIM:300686, RefSeq DNA:NT_028405, RefSeq RNA:NR_029955 No chrX 114058017 114058127 114823454 114823564 +PA166176233 100616320 HGNC:41781 ENSG00000283699 microRNA 4481 MIR4481 hsa-mir-4481 Yes Yes Ensembl:ENSG00000283699, HGNC:HGNC:41781, NCBI Gene:100616320 No chr10 12695137 12695196 12653138 12653197 +PA164722718 554213 HGNC:27645 ENSG00000198983 microRNA 449a MIR449A hsa-mir-449, hsa-mir-449a Yes No Ensembl:ENSG00000198983, GeneCard:MIR449A, HGNC:HGNC:27645, NCBI Gene:554213, OMIM:613131, RefSeq DNA:NT_006713, RefSeq RNA:NR_029960 No chr5 54466360 54466450 55170532 55170622 +PA164722719 693123 HGNC:32794 ENSG00000207728 microRNA 449b MIR449B hsa-mir-449b Yes Yes Ensembl:ENSG00000207728, GeneCard:MIR449B, HGNC:HGNC:32794, NCBI Gene:693123, OMIM:613132, RefSeq DNA:NT_006713, RefSeq RNA:NR_030387 No chr5 54466474 54466570 55170646 55170742 +PA165660386 100313923 HGNC:37302 ENSG00000251856 microRNA 449c MIR449C hsa-mir-449c Yes No Ensembl:ENSG00000251856, GeneCard:MIR449C, HGNC:HGNC:37302, NCBI Gene:100313923, RefSeq RNA:NR_031572 No chr5 54468090 54468181 55172262 55172353 +PA164722720 554214 HGNC:28008 ENSG00000199132 microRNA 450a-1 MIR450A1 hsa-mir-450, hsa-mir-450-1, hsa-mir-450a-1 Yes No Ensembl:ENSG00000199132, GeneCard:MIR450A1, HGNC:HGNC:28008, NCBI Gene:554214, RefSeq DNA:NT_011786, RefSeq RNA:NR_029962 No chrX 133674371 133674461 134540341 134540431 +PA164722721 574505 HGNC:32137 ENSG00000207755 microRNA 450a-2 MIR450A2 hsa-mir-450-2, hsa-mir-450a-2 Yes No Ensembl:ENSG00000207755, GeneCard:MIR450A2, HGNC:HGNC:32137, NCBI Gene:574505, RefSeq DNA:NT_011786, RefSeq RNA:NR_030227 No chrX 133674538 133674637 134540508 134540607 +PA164722722 100126302 HGNC:33642 ENSG00000216001 microRNA 450b MIR450B hsa-mir-450b Yes No Ensembl:ENSG00000216001, GeneCard:MIR450B, HGNC:HGNC:33642, NCBI Gene:100126302, RefSeq DNA:NT_011786, RefSeq RNA:NR_030587 No chrX 133674215 133674292 134540185 134540262 +PA164722723 574411 HGNC:32053 ENSG00000284565 microRNA 451a MIR451A hsa-mir-451 Yes No Ensembl:ENSG00000284565, GeneCard:MIR451A, HGNC:HGNC:32053, NCBI Gene:574411, OMIM:612071, RefSeq DNA:NT_010799, RefSeq RNA:NR_029970 No chr17 27188387 27188458 28861369 28861440 +PA164722724 574412 HGNC:32054 ENSG00000283751 microRNA 452 MIR452 hsa-mir-452 Yes No Ensembl:ENSG00000283751, GeneCard:MIR452, HGNC:HGNC:32054, NCBI Gene:574412, RefSeq DNA:NT_167198, RefSeq RNA:NR_029973 No chrX 151128100 151128184 151959628 151959712 +PA164722726 768216 HGNC:33137 ENSG00000211514 microRNA 454 MIR454 hsa-mir-454 Yes No Ensembl:ENSG00000211514, GeneCard:MIR454, HGNC:HGNC:33137, NCBI Gene:768216, RefSeq DNA:NT_010783, RefSeq RNA:NR_030411 No chr17 57215119 57215233 59137758 59137872 +PA164722727 619556 HGNC:32344 ENSG00000207726 microRNA 455 MIR455 hsa-mir-455 Yes No Ensembl:ENSG00000207726, GeneCard:MIR455, HGNC:HGNC:32344, NCBI Gene:619556, RefSeq DNA:NT_008470, RefSeq RNA:NR_030255 No chr9 116971714 116971809 114209434 114209529 +PA165697842 100423038 HGNC:38359 ENSG00000265376 microRNA 466 MIR466 hsa-mir-466 Yes No Ensembl:ENSG00000265376, HGNC:HGNC:38359, NCBI Gene:100423038 No chr3 +PA164722728 619552 HGNC:32340 ENSG00000207805 microRNA 483 MIR483 hsa-mir-483 Yes No Ensembl:ENSG00000207805, GeneCard:MIR483, HGNC:HGNC:32340, NCBI Gene:619552, RefSeq DNA:NT_009237, RefSeq RNA:NR_030158 No chr11 2155364 2155439 2134134 2134209 +PA164722729 619553 HGNC:32341 ENSG00000283736 microRNA 484 MIR484 hsa-mir-484 Yes No Ensembl:ENSG00000283736, GeneCard:MIR484, HGNC:HGNC:32341, NCBI Gene:619553, RefSeq DNA:NT_010393, RefSeq RNA:NR_030159 No chr16 15737151 15737229 15643294 15643372 +PA164722730 574436 HGNC:32067 ENSG00000208027 microRNA 485 MIR485 hsa-mir-485 Yes No Ensembl:ENSG00000208027, GeneCard:MIR485, HGNC:HGNC:32067, NCBI Gene:574436, RefSeq DNA:NT_026437, RefSeq RNA:NR_030160 No chr14 101521756 101521828 101055419 101055491 +PA164722732 619555 HGNC:32343 ENSG00000207742 microRNA 487a MIR487A hsa-mir-487, hsa-mir-487a Yes No Ensembl:ENSG00000207742, GeneCard:MIR487A, HGNC:HGNC:32343, NCBI Gene:619555, RefSeq DNA:NT_026437, RefSeq RNA:NR_030162 No chr14 101518783 101518862 101052446 101052525 +PA164722733 664616 HGNC:32533 ENSG00000207754 microRNA 487b MIR487B hsa-mir-487b Yes No Ensembl:ENSG00000207754, GeneCard:MIR487B, HGNC:HGNC:32533, NCBI Gene:664616, RefSeq DNA:NT_026437, RefSeq RNA:NR_030267 No chr14 101512792 101512875 101046455 101046538 +PA164722734 574441 HGNC:32073 ENSG00000202609 microRNA 488 MIR488 hsa-mir-488 Yes No Ensembl:ENSG00000202609, GeneCard:MIR488, HGNC:HGNC:32073, NCBI Gene:574441, RefSeq DNA:NT_004487, RefSeq RNA:NR_030163 No chr1 176998499 176998581 177029363 177029445 +PA164722735 574442 HGNC:32074 ENSG00000207656 microRNA 489 MIR489 hsa-mir-489 Yes No Ensembl:ENSG00000207656, GeneCard:MIR489, HGNC:HGNC:32074, NCBI Gene:574442, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_030164 No chr7 93113248 93113331 93483936 93484019 +PA164722736 574443 HGNC:32075 ENSG00000207597 microRNA 490 MIR490 hsa-mir-490, miR-490 Yes No Ensembl:ENSG00000207597, GeneCard:MIR490, HGNC:HGNC:32075, NCBI Gene:574443, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_030165 No chr7 136587914 136588041 136903167 136903294 +PA164722737 574444 HGNC:32076 ENSG00000207609 microRNA 491 MIR491 hsa-mir-491 Yes No Ensembl:ENSG00000207609, GeneCard:MIR491, HGNC:HGNC:32076, NCBI Gene:574444, RefSeq DNA:NT_008413, RefSeq RNA:NR_030166 No chr9 20716104 20716187 20716105 20716188 +PA164722738 574449 HGNC:32081 ENSG00000283998 microRNA 492 MIR492 hsa-mir-492 Yes Yes Ensembl:ENSG00000283998, GeneCard:MIR492, HGNC:HGNC:32081, NCBI Gene:574449, RefSeq DNA:NT_029419, RefSeq RNA:NR_030171 No chr12 95228174 95228289 94834398 94834513 +PA164722739 574450 HGNC:32082 ENSG00000207989 microRNA 493 MIR493 hsa-mir-493 Yes No Ensembl:ENSG00000207989, GeneCard:MIR493, HGNC:HGNC:32082, NCBI Gene:574450, RefSeq DNA:NT_026437, RefSeq RNA:NR_030172 No chr14 101335397 101335485 100869060 100869148 +PA164722740 574452 HGNC:32084 ENSG00000194717 microRNA 494 MIR494 hsa-mir-494 Yes No Ensembl:ENSG00000194717, GeneCard:MIR494, HGNC:HGNC:32084, NCBI Gene:574452, RefSeq DNA:NT_026437, RefSeq RNA:NR_030174 No chr14 101495971 101496051 101029634 101029714 +PA164722741 574453 HGNC:32085 ENSG00000207743 microRNA 495 MIR495 hsa-mir-495 Yes No Ensembl:ENSG00000207743, GeneCard:MIR495, HGNC:HGNC:32085, NCBI Gene:574453, RefSeq DNA:NT_026437, RefSeq RNA:NR_030175 No chr14 101500092 101500173 101033755 101033836 +PA164722742 574454 HGNC:32086 ENSG00000207961 microRNA 496 MIR496 hsa-mir-496 Yes No Ensembl:ENSG00000207961, GeneCard:MIR496, HGNC:HGNC:32086, NCBI Gene:574454, RefSeq DNA:NT_026437, RefSeq RNA:NR_030176 No chr14 101526910 101527011 101060573 101060674 +PA164722743 574456 HGNC:32088 ENSG00000284027 microRNA 497 MIR497 hsa-mir-497 Yes No Ensembl:ENSG00000284027, GeneCard:MIR497, HGNC:HGNC:32088, NCBI Gene:574456, RefSeq DNA:NT_010718, RefSeq RNA:NR_030178 No chr17 6921230 6921341 7017911 7018022 +PA164722744 574460 HGNC:32092 ENSG00000207869 microRNA 498 MIR498 hsa-mir-498 Yes No Ensembl:ENSG00000207869, GeneCard:MIR498, HGNC:HGNC:32092, NCBI Gene:574460, RefSeq DNA:NT_011109, RefSeq RNA:NR_030182 No chr19 54177451 54177574 53674197 53674320 +PA164722745 574501 HGNC:32133 ENSG00000207635 microRNA 499a MIR499A hsa-mir-499 Yes No Ensembl:ENSG00000207635, GeneCard:MIR499A, HGNC:HGNC:32133, NCBI Gene:574501, RefSeq DNA:NT_011362, RefSeq RNA:NR_030223 No chr20 33578179 33578300 34990376 34990497 +PA164722746 574502 HGNC:32134 ENSG00000207785 microRNA 500a MIR500A hsa-mir-500 Yes No Ensembl:ENSG00000207785, GeneCard:MIR500A, HGNC:HGNC:32134, NCBI Gene:574502, RefSeq DNA:NT_086939, RefSeq RNA:NR_030224 No chrX 49773039 49773122 50008431 50008514 +PA165756959 100422911 HGNC:38223 ENSG00000239057 microRNA 500b MIR500B hsa-mir-500b Yes No Ensembl:ENSG00000239057, HGNC:HGNC:38223, NCBI Gene:100422911, RefSeq RNA:NR_036257 No chrX 49775280 49775358 50010672 50010750 +PA164722747 574503 HGNC:32135 ENSG00000211538 microRNA 501 MIR501 hsa-mir-501 Yes No Ensembl:ENSG00000211538, GeneCard:MIR501, HGNC:HGNC:32135, NCBI Gene:574503, RefSeq DNA:NT_086939, RefSeq RNA:NR_030225 No chrX 49774330 49774413 50009722 50009805 +PA164722748 574504 HGNC:32136 ENSG00000272080 microRNA 502 MIR502 hsa-mir-502 Yes No Ensembl:ENSG00000272080, GeneCard:MIR502, HGNC:HGNC:32136, NCBI Gene:574504, RefSeq DNA:NT_086939, RefSeq RNA:NR_030226 No chrX 49779206 49779291 50014598 50014683 +PA164722749 574506 HGNC:32138 ENSG00000208005 microRNA 503 MIR503 hsa-mir-503 Yes No Ensembl:ENSG00000208005, GeneCard:MIR503, HGNC:HGNC:32138, NCBI Gene:574506, RefSeq DNA:NT_011786, RefSeq RNA:NR_030228 No chrX 133680358 133680428 134546328 134546398 +PA164722750 574507 HGNC:32139 ENSG00000207800 microRNA 504 MIR504 hsa-mir-504 Yes No Ensembl:ENSG00000207800, GeneCard:MIR504, HGNC:HGNC:32139, NCBI Gene:574507, RefSeq DNA:NT_011786, RefSeq RNA:NR_030229 No chrX 137749872 137749954 138667711 138667793 +PA164722751 574508 HGNC:32140 ENSG00000207633 microRNA 505 MIR505 hsa-mir-505 Yes No Ensembl:ENSG00000207633, GeneCard:MIR505, HGNC:HGNC:32140, NCBI Gene:574508, RefSeq DNA:NT_011786, RefSeq RNA:NR_030230 No chrX 139006307 139006390 139924148 139924231 +PA164722752 574511 HGNC:32143 ENSG00000207731 microRNA 506 MIR506 hsa-mir-506 Yes No Ensembl:ENSG00000207731, GeneCard:MIR506, HGNC:HGNC:32143, NCBI Gene:574511, RefSeq DNA:NT_011681, RefSeq RNA:NR_030233 No chrX 146312238 146312361 147230720 147230843 +PA164722753 574512 HGNC:32144 ENSG00000207969 microRNA 507 MIR507 hsa-mir-507 Yes No Ensembl:ENSG00000207969, GeneCard:MIR507, HGNC:HGNC:32144, NCBI Gene:574512, RefSeq DNA:NT_011681, RefSeq RNA:NR_030234 No chrX 146312502 146312595 147230984 147231077 +PA164722754 574513 HGNC:32145 ENSG00000207589 microRNA 508 MIR508 hsa-mir-508 Yes No Ensembl:ENSG00000207589, GeneCard:MIR508, HGNC:HGNC:32145, NCBI Gene:574513, RefSeq DNA:NT_011681, RefSeq RNA:NR_030235 No chrX 146318431 146318545 147236913 147237027 +PA164722755 574514 HGNC:32146 ENSG00000208000 microRNA 509-1 MIR509-1 hsa-mir-509, hsa-mir-509-1 Yes No Ensembl:ENSG00000208000, GeneCard:MIR509-1, HGNC:HGNC:32146, NCBI Gene:574514, RefSeq DNA:NT_011681, RefSeq RNA:NR_030236 No chrX 146342050 146342143 147260532 147260625 +PA164722756 100126301 HGNC:33641 ENSG00000212013 microRNA 509-2 MIR509-2 hsa-mir-509-2 Yes No Ensembl:ENSG00000212013, GeneCard:MIR509-2, HGNC:HGNC:33641, NCBI Gene:100126301, RefSeq DNA:NT_011681, RefSeq RNA:NR_030586 No chrX 146340278 146340368 147258760 147258850 +PA164722757 100126337 HGNC:33675 ENSG00000212014 microRNA 509-3 MIR509-3 hsa-mir-509-3 Yes No Ensembl:ENSG00000212014, GeneCard:MIR509-3, HGNC:HGNC:33675, NCBI Gene:100126337, RefSeq RNA:NR_030629 No chrX 146341170 146341244 147259652 147259726 +PA164722758 574515 HGNC:32147 ENSG00000207641 microRNA 510 MIR510 hsa-mir-510 Yes No Ensembl:ENSG00000207641, GeneCard:MIR510, HGNC:HGNC:32147, NCBI Gene:574515, RefSeq DNA:NT_011681, RefSeq RNA:NR_030237 No chrX 146353853 146353926 147272335 147272408 +PA164722761 574458 HGNC:32090 ENSG00000207645 microRNA 512-1 MIR512-1 hsa-mir-512-1 Yes No Ensembl:ENSG00000207645, GeneCard:MIR512-1, HGNC:HGNC:32090, NCBI Gene:574458, RefSeq DNA:NT_011109, RefSeq RNA:NR_030180 No chr19 54169933 54170016 53666679 53666762 +PA164722762 574459 HGNC:32091 ENSG00000207644 microRNA 512-2 MIR512-2 hsa-mir-512-2 Yes No Ensembl:ENSG00000207644, GeneCard:MIR512-2, HGNC:HGNC:32091, NCBI Gene:574459, RefSeq DNA:NT_011109, RefSeq RNA:NR_030181 No chr19 54172411 54172508 53669157 53669254 +PA164722763 574509 HGNC:32141 ENSG00000207873 microRNA 513a-1 MIR513A1 hsa-mir-513-1, hsa-mir-513a-1 Yes No Ensembl:ENSG00000207873, GeneCard:MIR513A1, HGNC:HGNC:32141, NCBI Gene:574509, RefSeq DNA:NT_011681, RefSeq RNA:NR_030231 No chrX 146294981 146295109 147213463 147213591 +PA164722764 574510 HGNC:32142 ENSG00000207984 microRNA 513a-2 MIR513A2 hsa-mir-513-2 Yes No Ensembl:ENSG00000207984, GeneCard:MIR513A2, HGNC:HGNC:32142, NCBI Gene:574510, RefSeq DNA:NT_011681, RefSeq RNA:NR_030232 No chrX 146307344 146307470 147225826 147225952 +PA164722765 100313822 HGNC:33935 ENSG00000207871 microRNA 513b MIR513B hsa-mir-513b Yes No Ensembl:ENSG00000207871, HGNC:HGNC:33935, NCBI Gene:100313822 No chrX 146280562 146280645 147199044 147199127 +PA164722766 100302114 HGNC:33934 ENSG00000216171 microRNA 513c MIR513C hsa-mir-513c Yes No Ensembl:ENSG00000216171, HGNC:HGNC:33934, NCBI Gene:100302114 No chrX 146271222 146271305 147189704 147189787 +PA164722767 574516 HGNC:32148 ENSG00000207868 microRNA 514a-1 MIR514A1 hsa-mir-514-1 Yes No Ensembl:ENSG00000207868, GeneCard:MIR514A1, HGNC:HGNC:32148, NCBI Gene:574516, RefSeq DNA:NT_011681, RefSeq RNA:NR_030238 No chrX 146360765 146360862 147279247 147279344 +PA164722768 574517 HGNC:32149 ENSG00000207866 microRNA 514a-2 MIR514A2 hsa-mir-514-2 Yes No Ensembl:ENSG00000207866, GeneCard:MIR514A2, HGNC:HGNC:32149, NCBI Gene:574517, RefSeq DNA:NT_011681, RefSeq RNA:NR_030239 No chrX 146363461 146363548 147281943 147282030 +PA164722769 574518 HGNC:32150 ENSG00000207867 microRNA 514a-3 MIR514A3 hsa-mir-514-3 Yes No Ensembl:ENSG00000207867, GeneCard:MIR514A3, HGNC:HGNC:32150, NCBI Gene:574518, RefSeq DNA:NT_011681, RefSeq RNA:NR_030240 No chrX 146366159 146366246 147284641 147284728 +PA165756988 100422847 HGNC:38292 ENSG00000252583 microRNA 514b MIR514B hsa-mir-514b Yes No Ensembl:ENSG00000252583, HGNC:HGNC:38292, NCBI Gene:100422847, RefSeq RNA:NR_036173 No chrX 146331669 146331748 147250151 147250230 +PA164722770 574462 HGNC:32094 ENSG00000207616 microRNA 515-1 MIR515-1 hsa-mir-515-1 Yes No Ensembl:ENSG00000207616, GeneCard:MIR515-1, HGNC:HGNC:32094, NCBI Gene:574462, RefSeq DNA:NT_011109, RefSeq RNA:NR_030184 No chr19 54182257 54182339 53679003 53679085 +PA164722771 574465 HGNC:32097 ENSG00000207615 microRNA 515-2 MIR515-2 hsa-mir-515-2 Yes No Ensembl:ENSG00000207615, GeneCard:MIR515-2, HGNC:HGNC:32097, NCBI Gene:574465, RefSeq DNA:NT_011109, RefSeq RNA:NR_030187 No chr19 54188263 54188345 53685009 53685091 +PA164722772 574498 HGNC:32130 ENSG00000207767 microRNA 516a-1 MIR516A1 hsa-mir-516-1, hsa-mir-516a-1 Yes No Ensembl:ENSG00000207767, GeneCard:MIR516A1, HGNC:HGNC:32130, NCBI Gene:574498, RefSeq DNA:NT_011109, RefSeq RNA:NR_030220 No chr19 54259995 54260084 53756741 53756830 +PA164722773 574499 HGNC:32131 ENSG00000207620 microRNA 516a-2 MIR516A2 hsa-mir-516-2, hsa-mir-516a-2 Yes No Ensembl:ENSG00000207620, GeneCard:MIR516A2, HGNC:HGNC:32131, NCBI Gene:574499, RefSeq DNA:NT_011109, RefSeq RNA:NR_030221 No chr19 54264387 54264476 53761133 53761222 +PA164722774 574490 HGNC:32122 ENSG00000207946 microRNA 516b-1 MIR516B1 hsa-mir-516-4, hsa-mir-516b-1 Yes No Ensembl:ENSG00000207946, GeneCard:MIR516B1, HGNC:HGNC:32122, NCBI Gene:574490, RefSeq DNA:NT_011109, RefSeq RNA:NR_030212 No chr19 54240099 54240188 53736845 53736934 +PA164722775 574485 HGNC:32117 ENSG00000207925 microRNA 516b-2 MIR516B2 hsa-mir-516-3, hsa-mir-516b-2 Yes No Ensembl:ENSG00000207925, GeneCard:MIR516B2, HGNC:HGNC:32117, NCBI Gene:574485, RefSeq DNA:NT_011109, RefSeq RNA:NR_030207 No chr19 54228696 54228780 53725442 53725526 +PA164722776 574479 HGNC:32111 ENSG00000207734 microRNA 517a MIR517A hsa-mir-517a Yes No Ensembl:ENSG00000207734, GeneCard:MIR517A, HGNC:HGNC:32111, NCBI Gene:574479, RefSeq DNA:NT_011109, RefSeq RNA:NR_030201 No chr19 54215522 54215608 53712268 53712354 +PA164722777 574483 HGNC:32115 ENSG00000207837 microRNA 517b MIR517B hsa-mir-517b Yes No Ensembl:ENSG00000207837, GeneCard:MIR517B, HGNC:HGNC:32115, NCBI Gene:574483, RefSeq DNA:NT_011109, RefSeq RNA:NR_030205 No chr19 54224330 54224396 53721076 53721142 +PA164722778 574492 HGNC:32124 ENSG00000207838 microRNA 517c MIR517C hsa-mir-517c Yes No Ensembl:ENSG00000207838, GeneCard:MIR517C, HGNC:HGNC:32124, NCBI Gene:574492, RefSeq DNA:NT_011109, RefSeq RNA:NR_030214 No chr19 54244567 54244661 53741313 53741407 +PA166160518 100847057 HGNC:43515 ENSG00000263456 microRNA 5189 MIR5189 hsa-mir-5189 Yes Yes Ensembl:ENSG00000263456, HGNC:HGNC:43515, NCBI Gene:100847057 No chr16 88535326 88535439 88468918 88469031 +PA164722779 574488 HGNC:32120 ENSG00000207803 microRNA 518a-1 MIR518A1 hsa-mir-518a-1 Yes No Ensembl:ENSG00000207803, GeneCard:MIR518A1, HGNC:HGNC:32120, NCBI Gene:574488, RefSeq DNA:NT_011109, RefSeq RNA:NR_030210 No chr19 54234260 54234344 53731006 53731090 +PA164722780 574491 HGNC:32123 ENSG00000207699 microRNA 518a-2 MIR518A2 hsa-mir-518a-2 Yes No Ensembl:ENSG00000207699, GeneCard:MIR518A2, HGNC:HGNC:32123, NCBI Gene:574491, RefSeq DNA:NT_011109, RefSeq RNA:NR_030213 No chr19 54242587 54242673 53739333 53739419 +PA164722781 574474 HGNC:32106 ENSG00000207862 microRNA 518b MIR518B hsa-mir-518b Yes No Ensembl:ENSG00000207862, GeneCard:MIR518B, HGNC:HGNC:32106, NCBI Gene:574474, RefSeq DNA:NT_011109, RefSeq RNA:NR_030196 No chr19 54205991 54206073 53702737 53702819 +PA164722782 574477 HGNC:32109 ENSG00000283490 microRNA 518c MIR518C hsa-mir-518c Yes No Ensembl:ENSG00000283490, GeneCard:MIR518C, HGNC:HGNC:32109, NCBI Gene:574477, RefSeq DNA:NT_011109, RefSeq RNA:NR_030199 No chr19 54211989 54212089 53708735 53708835 +PA164722783 574489 HGNC:32121 ENSG00000283330 microRNA 518d MIR518D hsa-mir-518d Yes No Ensembl:ENSG00000283330, GeneCard:MIR518D, HGNC:HGNC:32121, NCBI Gene:574489, RefSeq DNA:NT_011109, RefSeq RNA:NR_030211 No chr19 54238131 54238217 53734877 53734963 +PA164722784 574487 HGNC:32119 ENSG00000207987 microRNA 518e MIR518E hsa-mir-518e Yes No Ensembl:ENSG00000207987, GeneCard:MIR518E, HGNC:HGNC:32119, NCBI Gene:574487, RefSeq DNA:NT_011109, RefSeq RNA:NR_030209 No chr19 54233092 54233179 53729838 53729925 +PA164722785 574472 HGNC:32104 ENSG00000207706 microRNA 518f MIR518F hsa-mir-518f Yes No Ensembl:ENSG00000207706, GeneCard:MIR518F, HGNC:HGNC:32104, NCBI Gene:574472, RefSeq DNA:NT_011109, RefSeq RNA:NR_030194 No chr19 54203269 54203355 53700015 53700101 +PA164722786 574496 HGNC:32128 ENSG00000207992 microRNA 519a-1 MIR519A1 hsa-mir-519a-1 Yes No Ensembl:ENSG00000207992, GeneCard:MIR519A1, HGNC:HGNC:32128, NCBI Gene:574496, RefSeq DNA:NT_011109, RefSeq RNA:NR_030218 No chr19 54255651 54255735 53752397 53752481 +PA164722787 574500 HGNC:32132 ENSG00000284362 microRNA 519a-2 MIR519A2 hsa-mir-519a-2 Yes No Ensembl:ENSG00000284362, GeneCard:MIR519A2, HGNC:HGNC:32132, NCBI Gene:574500, RefSeq DNA:NT_011109, RefSeq RNA:NR_030222 No chr19 54265598 54265684 53762344 53762430 +PA164722788 574469 HGNC:32101 ENSG00000207825 microRNA 519b MIR519B hsa-mir-519b Yes No Ensembl:ENSG00000207825, GeneCard:MIR519B, HGNC:HGNC:32101, NCBI Gene:574469, RefSeq DNA:NT_011109, RefSeq RNA:NR_030191 No chr19 54198467 54198547 53695213 53695293 +PA164722789 574466 HGNC:32098 ENSG00000207788 microRNA 519c MIR519C hsa-mir-519c Yes No Ensembl:ENSG00000207788, GeneCard:MIR519C, HGNC:HGNC:32098, NCBI Gene:574466, RefSeq DNA:NT_011109, RefSeq RNA:NR_030188 No chr19 54189723 54189809 53686469 53686555 +PA164722790 574480 HGNC:32112 ENSG00000207981 microRNA 519d MIR519D hsa-mir-519d Yes No Ensembl:ENSG00000207981, GeneCard:MIR519D, HGNC:HGNC:32112, NCBI Gene:574480, RefSeq DNA:NT_011109, RefSeq RNA:NR_030202 No chr19 54216601 54216688 53713347 53713434 +PA164722791 574463 HGNC:32095 ENSG00000207810 microRNA 519e MIR519E hsa-mir-519e Yes No Ensembl:ENSG00000207810, GeneCard:MIR519E, HGNC:HGNC:32095, NCBI Gene:574463, RefSeq DNA:NT_011109, RefSeq RNA:NR_030185 No chr19 54183194 54183277 53679940 53680023 +PA164722792 574467 HGNC:32099 ENSG00000207594 microRNA 520a MIR520A hsa-mir-520a Yes No Ensembl:ENSG00000207594, GeneCard:MIR520A, HGNC:HGNC:32099, NCBI Gene:574467, RefSeq DNA:NT_011109, RefSeq RNA:NR_030189 No chr19 54194135 54194219 53690881 53690965 +PA164722793 574473 HGNC:32105 ENSG00000207722 microRNA 520b MIR520B hsa-mir-520b Yes No Ensembl:ENSG00000207722, GeneCard:MIR520B, HGNC:HGNC:32105, NCBI Gene:574473, RefSeq RNA:NR_030195 No chr19 54204481 54204541 53701227 53701287 +PA164722794 574476 HGNC:32108 ENSG00000207738 microRNA 520c MIR520C hsa-mir-520c Yes No Ensembl:ENSG00000207738, GeneCard:MIR520C, HGNC:HGNC:32108, NCBI Gene:574476, RefSeq DNA:NT_011109, RefSeq RNA:NR_030198 No chr19 54210707 54210793 53707453 53707539 +PA164722795 574482 HGNC:32114 ENSG00000207735 microRNA 520d MIR520D hsa-mir-520d Yes No Ensembl:ENSG00000207735, GeneCard:MIR520D, HGNC:HGNC:32114, NCBI Gene:574482, RefSeq RNA:NR_030204 No chr19 54223350 54223436 53720096 53720182 +PA164722796 574461 HGNC:32093 ENSG00000207599 microRNA 520e MIR520E hsa-mir-520e Yes No Ensembl:ENSG00000207599, GeneCard:MIR520E, HGNC:HGNC:32093, NCBI Gene:574461, RefSeq DNA:NT_011109, RefSeq RNA:NR_030183 No chr19 54178965 54179051 53675711 53675797 +PA164722797 574464 HGNC:32096 ENSG00000283540 microRNA 520f MIR520F hsa-mir-520f Yes No Ensembl:ENSG00000283540, GeneCard:MIR520F, HGNC:HGNC:32096, NCBI Gene:574464, RefSeq DNA:NT_011109, RefSeq RNA:NR_030186 No chr19 54185413 54185499 53682159 53682245 +PA164722798 574484 HGNC:32116 ENSG00000207799 microRNA 520g MIR520G hsa-mir-520g Yes No Ensembl:ENSG00000207799, GeneCard:MIR520G, HGNC:HGNC:32116, NCBI Gene:574484, RefSeq DNA:NT_011109, RefSeq RNA:NR_030206 No chr19 54225420 54225509 53722166 53722255 +PA164722799 574493 HGNC:32125 ENSG00000207861 microRNA 520h MIR520H hsa-mir-520h Yes No Ensembl:ENSG00000207861, GeneCard:MIR520H, HGNC:HGNC:32125, NCBI Gene:574493, RefSeq DNA:NT_011109, RefSeq RNA:NR_030215 No chr19 54245766 54245853 53742512 53742599 +PA164722800 574494 HGNC:32126 ENSG00000207634 microRNA 521-1 MIR521-1 hsa-mir-521-1 Yes No Ensembl:ENSG00000207634, GeneCard:MIR521-1, HGNC:HGNC:32126, NCBI Gene:574494, RefSeq DNA:NT_011109, RefSeq RNA:NR_030216 No chr19 54251890 54251976 53748636 53748722 +PA164722801 574481 HGNC:32113 ENSG00000207549 microRNA 521-2 MIR521-2 hsa-mir-521-2 Yes No Ensembl:ENSG00000207549, GeneCard:MIR521-2, HGNC:HGNC:32113, NCBI Gene:574481, RefSeq DNA:NT_011109, RefSeq RNA:NR_030203 No chr19 54219848 54219934 53716594 53716680 +PA164722802 574495 HGNC:32127 ENSG00000283685 microRNA 522 MIR522 hsa-mir-522 Yes No Ensembl:ENSG00000283685, GeneCard:MIR522, HGNC:HGNC:32127, NCBI Gene:574495, RefSeq DNA:NT_011109, RefSeq RNA:NR_030217 No chr19 54254465 54254551 53751211 53751297 +PA164722803 574471 HGNC:32103 ENSG00000283455 microRNA 523 MIR523 hsa-mir-523 Yes No Ensembl:ENSG00000283455, GeneCard:MIR523, HGNC:HGNC:32103, NCBI Gene:574471, RefSeq DNA:NT_011109, RefSeq RNA:NR_030193 No chr19 54201639 54201725 53698385 53698471 +PA164722804 574478 HGNC:32110 ENSG00000283289 microRNA 524 MIR524 hsa-mir-524 Yes No Ensembl:ENSG00000283289, GeneCard:MIR524, HGNC:HGNC:32110, NCBI Gene:574478, RefSeq DNA:NT_011109, RefSeq RNA:NR_030200 No chr19 54214256 54214342 53711002 53711088 +PA164722805 574470 HGNC:32102 ENSG00000207711 microRNA 525 MIR525 hsa-mir-525 Yes No Ensembl:ENSG00000207711, GeneCard:MIR525, HGNC:HGNC:32102, NCBI Gene:574470, RefSeq DNA:NT_011109, RefSeq RNA:NR_030192 No chr19 54200787 54200871 53697533 53697617 +PA164722806 574475 HGNC:32107 ENSG00000207629 microRNA 526a-1 MIR526A1 hsa-mir-526a-1 Yes No Ensembl:ENSG00000207629, GeneCard:MIR526A1, HGNC:HGNC:32107, NCBI Gene:574475, RefSeq DNA:NT_011109, RefSeq RNA:NR_030197 No chr19 54209506 54209590 53706252 53706336 +PA164722807 574486 HGNC:32118 ENSG00000211532 microRNA 526a-2 MIR526A2 hsa-mir-526a-2 Yes No Ensembl:ENSG00000211532, GeneCard:MIR526A2, HGNC:HGNC:32118, NCBI Gene:574486, RefSeq DNA:NT_011109, RefSeq RNA:NR_030208 No chr19 54230176 54230240 53726922 53726986 +PA164722808 574468 HGNC:32100 ENSG00000207580 microRNA 526b MIR526B hsa-mir-526b Yes No Ensembl:ENSG00000207580, GeneCard:MIR526B, HGNC:HGNC:32100, NCBI Gene:574468, RefSeq DNA:NT_011109, RefSeq RNA:NR_030190 No chr19 54197647 54197729 53694393 53694475 +PA164722809 574497 HGNC:32129 ENSG00000207979 microRNA 527 MIR527 hsa-mir-527 Yes No Ensembl:ENSG00000207979, GeneCard:MIR527, HGNC:HGNC:32129, NCBI Gene:574497, RefSeq DNA:NT_011109, RefSeq RNA:NR_030219 No chr19 54257272 54257356 53754018 53754102 +PA164722810 693124 HGNC:32795 ENSG00000207758 microRNA 532 MIR532 hsa-mir-532 Yes No Ensembl:ENSG00000207758, GeneCard:MIR532, HGNC:HGNC:32795, NCBI Gene:693124, RefSeq DNA:NT_086939, RefSeq RNA:NR_030241 No chrX 49767754 49767844 50003148 50003238 +PA164722811 664612 HGNC:32529 ENSG00000202560 microRNA 539 MIR539 hsa-mir-539 Yes No Ensembl:ENSG00000202560, GeneCard:MIR539, HGNC:HGNC:32529, NCBI Gene:664612, RefSeq DNA:NT_026437, RefSeq RNA:NR_030256 No chr14 101513658 101513735 101047321 101047398 +PA164722812 100126308 HGNC:33650 ENSG00000216179 microRNA 541 MIR541 hsa-mir-541 Yes No Ensembl:ENSG00000216179, GeneCard:MIR541, HGNC:HGNC:33650, NCBI Gene:100126308, RefSeq DNA:NT_026437, RefSeq RNA:NR_030594 No chr14 101530832 101530915 101064495 101064578 +PA164722813 664617 HGNC:32534 ENSG00000207784 microRNA 542 MIR542 hsa-mir-542 Yes No Ensembl:ENSG00000207784, GeneCard:MIR542, HGNC:HGNC:32534, NCBI Gene:664617, RefSeq DNA:NT_011786, RefSeq RNA:NR_030399 No chrX 133675371 133675467 134541341 134541437 +PA164722814 100126335 HGNC:33664 ENSG00000212040 microRNA 543 MIR543 hsa-mir-543 Yes No Ensembl:ENSG00000212040, GeneCard:MIR543, HGNC:HGNC:33664, NCBI Gene:100126335, RefSeq DNA:NT_026437, RefSeq RNA:NR_030619 No chr14 101498324 101498401 101031987 101032064 +PA164722815 664613 HGNC:32530 ENSG00000207587 microRNA 544a MIR544A hsa-mir-544 Yes No Ensembl:ENSG00000207587, GeneCard:MIR544A, HGNC:HGNC:32530, NCBI Gene:664613, RefSeq RNA:NR_030257 No chr14 101514995 101515085 101048658 101048748 +PA165697843 100422864 HGNC:38361 ENSG00000265981 microRNA 544b MIR544B hsa-mir-544b Yes No Ensembl:ENSG00000265981, HGNC:HGNC:38361, NCBI Gene:100422864, RefSeq RNA:NR_036088 No chr3 124451286 124451363 124732439 124732516 +PA164722816 664614 HGNC:32531 ENSG00000207820 microRNA 545 MIR545 hsa-mir-545 Yes No Ensembl:ENSG00000207820, GeneCard:MIR545, HGNC:HGNC:32531, NCBI Gene:664614, RefSeq RNA:NR_030258 No chrX 73506939 73507044 74287104 74287209 +PA164722817 693125 HGNC:32796 ENSG00000207775 microRNA 548a-1 MIR548A1 hsa-mir-548a-1 Yes No Ensembl:ENSG00000207775, GeneCard:MIR548A1, HGNC:HGNC:32796, NCBI Gene:693125, RefSeq RNA:NR_030312 No chr6 18572015 18572111 18571784 18571880 +PA164722818 693126 HGNC:32797 ENSG00000207689 microRNA 548a-2 MIR548A2 hsa-mir-548a-2 Yes No Ensembl:ENSG00000207689, GeneCard:MIR548A2, HGNC:HGNC:32797, NCBI Gene:693126, RefSeq RNA:NR_030317 No chr6 135560298 135560394 135239160 135239256 +PA164722819 693127 HGNC:32798 ENSG00000208032 microRNA 548a-3 MIR548A3 hsa-mir-548a-3 Yes No Ensembl:ENSG00000208032, GeneCard:MIR548A3, HGNC:HGNC:32798, NCBI Gene:693127, RefSeq RNA:NR_030330 No chr8 105496597 105496693 104484369 104484465 +PA164722820 693128 HGNC:32799 ENSG00000207982 microRNA 548b MIR548B hsa-mir-548b Yes No Ensembl:ENSG00000207982, GeneCard:MIR548B, HGNC:HGNC:32799, NCBI Gene:693128, RefSeq DNA:NT_025741, RefSeq RNA:NR_030315 No chr6 119390212 119390308 119069047 119069143 +PA164722821 693129 HGNC:32800 ENSG00000207546 microRNA 548c MIR548C hsa-mir-548c Yes No Ensembl:ENSG00000207546, GeneCard:MIR548C, HGNC:HGNC:32800, NCBI Gene:693129, RefSeq RNA:NR_030347 No chr12 65016289 65016385 64622509 64622605 +PA164722822 693130 HGNC:32801 ENSG00000283172 microRNA 548d-1 MIR548D1 hsa-mir-548d-1 Yes No Ensembl:ENSG00000283172, GeneCard:MIR548D1, HGNC:HGNC:32801, NCBI Gene:693130, RefSeq RNA:NR_030382 No chr8 124360274 124360370 123348034 123348130 +PA164722823 693131 HGNC:32802 ENSG00000263690 microRNA 548d-2 MIR548D2 hsa-mir-548d-2 Yes No Ensembl:ENSG00000263690, GeneCard:MIR548D2, HGNC:HGNC:32802, NCBI Gene:693131, RefSeq RNA:NR_030385 No chr17 65467605 65467701 67471489 67471585 +PA164722824 100313921 HGNC:35275 ENSG00000221214 microRNA 548e MIR548E hsa-mir-548e Yes No Ensembl:ENSG00000221214, HGNC:HGNC:35275, NCBI Gene:100313921 No chr10 112748684 112748771 110988926 110989013 +PA164722825 100302192 HGNC:35305 ENSG00000221594 microRNA 548f-1 MIR548F1 hsa-mir-548f-1 Yes No Ensembl:ENSG00000221594, HGNC:HGNC:35305, NCBI Gene:100302192 No chr10 56367634 56367717 54607874 54607957 +PA164722826 100313771 HGNC:35306 ENSG00000221782 microRNA 548f-2 MIR548F2 hsa-mir-548f-2 Yes No Ensembl:ENSG00000221782, HGNC:HGNC:35306, NCBI Gene:100313771 No chr2 213290987 213291084 212426263 212426360 +PA164722827 100302159 HGNC:35307 ENSG00000221436 microRNA 548f-3 MIR548F3 hsa-mir-548f-3 Yes No Ensembl:ENSG00000221436, HGNC:HGNC:35307, NCBI Gene:100302159 No chr5 109849530 109849616 110513829 110513915 +PA164722828 100313895 HGNC:35308 ENSG00000221442 microRNA 548f-4 MIR548F4 hsa-mir-548f-4 Yes No Ensembl:ENSG00000221442, HGNC:HGNC:35308, NCBI Gene:100313895 No chr7 147075109 147075213 147378017 147378121 +PA164722829 100302239 HGNC:35309 ENSG00000221348 microRNA 548f-5 MIR548F5 hsa-mir-548f-5 Yes No Ensembl:ENSG00000221348, HGNC:HGNC:35309, NCBI Gene:100302239 No chrX 32659591 32659676 32641474 32641559 +PA164722830 100313938 HGNC:35326 ENSG00000221369 microRNA 548g MIR548G hsa-mir-548g Yes No Ensembl:ENSG00000221369, HGNC:HGNC:35326, NCBI Gene:100313938 No chr4 148265781 148265869 147344629 147344717 +PA164722831 100313830 HGNC:35342 ENSG00000221537 microRNA 548h-1 MIR548H1 hsa-mir-548h-1 Yes No Ensembl:ENSG00000221537, HGNC:HGNC:35342, NCBI Gene:100313830 No chr14 64561742 64561843 64095024 64095125 +PA164722832 100313773 HGNC:35343 ENSG00000221801 microRNA 548h-2 MIR548H2 hsa-mir-548h-2 Yes No Ensembl:ENSG00000221801, HGNC:HGNC:35343, NCBI Gene:100313773 No chr16 11400297 11400384 11306440 11306527 +PA164722833 100302287 HGNC:35344 ENSG00000221698 microRNA 548h-3 MIR548H3 hsa-mir-548h-3 Yes No Ensembl:ENSG00000221698, HGNC:HGNC:35344, NCBI Gene:100302287 No chr17 13446846 13446963 13543529 13543646 +PA164722834 100313884 HGNC:35345 ENSG00000221616 microRNA 548h-4 MIR548H4 hsa-mir-548h-4 Yes No Ensembl:ENSG00000221616, HGNC:HGNC:35345, NCBI Gene:100313884 No chr8 26906370 26906480 27048853 27048963 +PA164722835 100302204 HGNC:35352 ENSG00000221737 microRNA 548i-1 MIR548I1 hsa-mir-548i-1 Yes No Ensembl:ENSG00000221737, HGNC:HGNC:35352, NCBI Gene:100302204 No chr3 125509247 125509395 125790404 125790552 +PA164722836 100302277 HGNC:35353 ENSG00000221275 microRNA 548i-2 MIR548I2 hsa-mir-548i-2 Yes No Ensembl:ENSG00000221275, HGNC:HGNC:35353, NCBI Gene:100302277 No chr4 9557789 9557937 9556168 9556316 +PA164722837 100302186 HGNC:35354 ENSG00000221305 microRNA 548i-3 MIR548I3 hsa-mir-548i-3 Yes No Ensembl:ENSG00000221305, HGNC:HGNC:35354, NCBI Gene:100302186 No chr8 7946463 7946611 8088941 8089089 +PA164722838 100302191 HGNC:35355 ENSG00000221494 microRNA 548i-4 MIR548I4 hsa-mir-548i-4 Yes No Ensembl:ENSG00000221494, HGNC:HGNC:35355, NCBI Gene:100302191 No chrX 83480760 83480836 84225752 84225828 +PA164722839 100313914 HGNC:35276 ENSG00000221760 microRNA 548j MIR548J hsa-mir-548j Yes No Ensembl:ENSG00000221760, HGNC:HGNC:35276, NCBI Gene:100313914 No chr22 26951178 26951289 26555212 26555323 +PA164722840 100313770 HGNC:35285 ENSG00000221333 microRNA 548k MIR548K hsa-mir-548k Yes No Ensembl:ENSG00000221333, HGNC:HGNC:35285, NCBI Gene:100313770 No chr11 70130061 70130176 70283955 70284070 +PA164722841 100302275 HGNC:35292 ENSG00000221230 microRNA 548l MIR548L hsa-mir-548l Yes No Ensembl:ENSG00000221230, HGNC:HGNC:35292, NCBI Gene:100302275 No chr11 94199661 94199746 94466495 94466580 +PA164722842 100313772 HGNC:35331 ENSG00000221187 microRNA 548m MIR548M hsa-mir-548m Yes No Ensembl:ENSG00000221187, HGNC:HGNC:35331, NCBI Gene:100313772 No chrX 94318140 94318225 95063141 95063226 +PA164722843 100302152 HGNC:35330 ENSG00000221669 microRNA 548n MIR548N hsa-mir-548n Yes No Ensembl:ENSG00000221669, HGNC:HGNC:35330, NCBI Gene:100302152 No chr7 34980372 34980446 34940760 34940834 +PA164722844 100313829 HGNC:35333 ENSG00000221510 microRNA 548o MIR548O hsa-mir-548o Yes No Ensembl:ENSG00000221510, HGNC:HGNC:35333, NCBI Gene:100313829 No chr7 102046189 102046302 102405742 102405855 +PA164722845 100302288 HGNC:35351 ENSG00000221263 microRNA 548p MIR548P hsa-mir-548p Yes No Ensembl:ENSG00000221263, HGNC:HGNC:35351, NCBI Gene:100302288 No chr5 100152186 100152269 100816482 100816565 +PA165548868 100313841 HGNC:37312 ENSG00000221331 microRNA 548q MIR548Q hsa-mir-548q Yes No Ensembl:ENSG00000221331, GeneCard:MIR548Q, HGNC:HGNC:37312, NCBI Gene:100313841, RefSeq RNA:NR_031752 No chr10 12767253 12767352 12725254 12725353 +PA165696878 100422862 HGNC:38354 ENSG00000265056 microRNA 548s MIR548S hsa-mir-548s Yes No Ensembl:ENSG00000265056, HGNC:HGNC:38354, NCBI Gene:100422862, RefSeq RNA:NR_036071 No chr2 11907570 11907651 11767444 11767525 +PA165664263 100422849 HGNC:38298 ENSG00000221296 microRNA 548t MIR548T hsa-mir-548t Yes No Ensembl:ENSG00000221296, HGNC:HGNC:38298, NCBI Gene:100422849, RefSeq RNA:NR_036093 No chr4 174189311 174189384 173268160 173268233 +PA165618127 100422884 HGNC:38316 ENSG00000212017 microRNA 548u MIR548U hsa-mir-548u Yes No Ensembl:ENSG00000212017, HGNC:HGNC:38316, NCBI Gene:100422884, RefSeq RNA:NR_036097 No chr6 57254930 57255010 57390132 57390212 +PA165585717 100422850 HGNC:38302 ENSG00000265520 microRNA 548v MIR548V hsa-mir-548v Yes No Ensembl:ENSG00000265520, HGNC:HGNC:38302, NCBI Gene:100422850, RefSeq RNA:NR_036103 No chr8 17539087 17539166 17681578 17681657 +PA165450199 100422923 HGNC:38255 ENSG00000265005 microRNA 548w MIR548W hsa-mir-548w Yes No Ensembl:ENSG00000265005, HGNC:HGNC:38255, NCBI Gene:100422923, RefSeq DNA:NG_005591, RefSeq RNA:NR_036146 No chr16 26036558 26036631 26025237 26025310 +PA165378434 100422920 HGNC:38248 ENSG00000265841 microRNA 548x MIR548X hsa-mir-548x Yes No Ensembl:ENSG00000265841, HGNC:HGNC:38248, NCBI Gene:100422920, RefSeq RNA:NR_036166 No chr21 20058408 20058482 18686090 18686164 +PA164722847 693133 HGNC:32804 ENSG00000207771 microRNA 550a-1 MIR550A1 hsa-mir-550-1 Yes No Ensembl:ENSG00000207771, GeneCard:MIR550A1, HGNC:HGNC:32804, NCBI Gene:693133, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_030319 No chr7 30329410 30329506 30289794 30289890 +PA164722848 693134 HGNC:32805 ENSG00000207573 microRNA 550a-2 MIR550A2 hsa-mir-550-2, hsa-mir-550a-2 Yes No Ensembl:ENSG00000207573, GeneCard:MIR550A2, HGNC:HGNC:32805, NCBI Gene:693134, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_030320 No chr7 32772593 32772689 32732981 32733077 +PA164722849 693135 HGNC:32806 ENSG00000207776 microRNA 551a MIR551A hsa-mir-551a Yes No Ensembl:ENSG00000207776, GeneCard:MIR551A, HGNC:HGNC:32806, NCBI Gene:693135, RefSeq DNA:NT_004350, RefSeq RNA:NR_030277 No chr1 3477259 3477354 3560695 3560790 +PA164722850 693136 HGNC:32807 ENSG00000207717 microRNA 551b MIR551B hsa-mir-551b Yes No Ensembl:ENSG00000207717, GeneCard:MIR551B, HGNC:HGNC:32807, NCBI Gene:693136, RefSeq DNA:NT_005612, RefSeq RNA:NR_030294 No chr3 168269642 168269737 168551854 168551949 +PA164722851 693137 HGNC:32808 ENSG00000207941 microRNA 552 MIR552 hsa-mir-552 Yes No Ensembl:ENSG00000207941, GeneCard:MIR552, HGNC:HGNC:32808, NCBI Gene:693137, RefSeq DNA:NT_032977, RefSeq RNA:NR_030278 No chr1 35135200 35135295 34669599 34669694 +PA164722852 693138 HGNC:32809 ENSG00000207750 microRNA 553 MIR553 hsa-mir-553 Yes No Ensembl:ENSG00000207750, GeneCard:MIR553, HGNC:HGNC:32809, NCBI Gene:693138, RefSeq DNA:NT_032977, RefSeq RNA:NR_030279 No chr1 100746797 100746864 100281241 100281308 +PA164722853 693139 HGNC:32810 ENSG00000207606 microRNA 554 MIR554 hsa-mir-554 Yes No Ensembl:ENSG00000207606, GeneCard:MIR554, HGNC:HGNC:32810, NCBI Gene:693139, RefSeq DNA:NT_004487, RefSeq RNA:NR_030280 No chr1 151518272 151518367 151545796 151545891 +PA164722854 693140 HGNC:32811 ENSG00000283701 microRNA 555 MIR555 hsa-mir-555 Yes No Ensembl:ENSG00000283701, GeneCard:MIR555, HGNC:HGNC:32811, NCBI Gene:693140, RefSeq DNA:NT_004487, RefSeq RNA:NR_030282 No chr1 155316141 155316236 155346350 155346445 +PA164722855 693141 HGNC:32812 ENSG00000207729 microRNA 556 MIR556 hsa-mir-556 Yes No Ensembl:ENSG00000207729, GeneCard:MIR556, HGNC:HGNC:32812, NCBI Gene:693141, RefSeq DNA:NT_004487, RefSeq RNA:NR_030283 No chr1 162312336 162312430 162342546 162342640 +PA164722856 693142 HGNC:32813 ENSG00000207974 microRNA 557 MIR557 hsa-mir-557 Yes No Ensembl:ENSG00000207974, GeneCard:MIR557, HGNC:HGNC:32813, NCBI Gene:693142, RefSeq DNA:NT_004487, RefSeq RNA:NR_030284 No chr1 168344762 168344859 168375524 168375621 +PA164722857 693143 HGNC:32814 ENSG00000207653 microRNA 558 MIR558 hsa-mir-558 Yes No Ensembl:ENSG00000207653, GeneCard:MIR558, HGNC:HGNC:32814, NCBI Gene:693143, RefSeq DNA:NT_022184, RefSeq RNA:NR_030285 No chr2 32757220 32757313 32532153 32532246 +PA164722858 693144 HGNC:32815 ENSG00000207923 microRNA 559 MIR559 hsa-mir-559 Yes No Ensembl:ENSG00000207923, GeneCard:MIR559, HGNC:HGNC:32815, NCBI Gene:693144, RefSeq DNA:NT_022184, RefSeq RNA:NR_030286 No chr2 47604814 47604909 47377675 47377770 +PA164722859 693146 HGNC:32817 ENSG00000207951 microRNA 561 MIR561 hsa-mir-561 Yes No Ensembl:ENSG00000207951, GeneCard:MIR561, HGNC:HGNC:32817, NCBI Gene:693146, RefSeq DNA:NT_005403, RefSeq RNA:NR_030287 No chr2 189162219 189162315 188297492 188297588 +PA164722860 693147 HGNC:32818 ENSG00000207626 microRNA 562 MIR562 hsa-mir-562 Yes No Ensembl:ENSG00000207626, GeneCard:MIR562, HGNC:HGNC:32818, NCBI Gene:693147, RefSeq RNA:NR_030288 No chr2 233037363 233037457 232172653 232172747 +PA164722861 693148 HGNC:32819 ENSG00000207815 microRNA 563 MIR563 hsa-mir-563 Yes No Ensembl:ENSG00000207815, GeneCard:MIR563, HGNC:HGNC:32819, NCBI Gene:693148, RefSeq DNA:NT_022517, RefSeq RNA:NR_030289 No chr3 15915278 15915356 15873771 15873849 +PA164722862 693149 HGNC:32820 ENSG00000284498 microRNA 564 MIR564 hsa-mir-564 Yes No Ensembl:ENSG00000284498, GeneCard:MIR564, HGNC:HGNC:32820, NCBI Gene:693149, RefSeq DNA:NT_022517, RefSeq RNA:NR_030290 No chr3 44903380 44903473 44861888 44861981 +PA164722864 693152 HGNC:32823 ENSG00000207940 microRNA 567 MIR567 hsa-mir-567 Yes No Ensembl:ENSG00000207940, GeneCard:MIR567, HGNC:HGNC:32823, NCBI Gene:693152, RefSeq DNA:NT_005612, RefSeq RNA:NR_030292 No chr3 111831648 111831745 112112801 112112898 +PA164722865 693153 HGNC:32824 ENSG00000284134 microRNA 568 MIR568 hsa-mir-568 Yes No Ensembl:ENSG00000284134, GeneCard:MIR568, HGNC:HGNC:32824, NCBI Gene:693153, RefSeq RNA:NR_030293 No chr3 114035322 114035416 114316475 114316569 +PA164722866 693154 HGNC:32825 ENSG00000207963 microRNA 569 MIR569 hsa-mir-569 Yes No Ensembl:ENSG00000207963, GeneCard:MIR569, HGNC:HGNC:32825, NCBI Gene:693154, RefSeq DNA:NT_005612, RefSeq RNA:NR_030295 No chr3 170824453 170824548 171106664 171106759 +PA164722867 693155 HGNC:32826 ENSG00000207650 microRNA 570 MIR570 hsa-mir-570 Yes No Ensembl:ENSG00000207650, GeneCard:MIR570, HGNC:HGNC:32826, NCBI Gene:693155, RefSeq RNA:NR_030296 No chr3 195426272 195426368 195699401 195699497 +PA164722868 693156 HGNC:32827 ENSG00000207642 microRNA 571 MIR571 hsa-mir-571 Yes No Ensembl:ENSG00000207642, GeneCard:MIR571, HGNC:HGNC:32827, NCBI Gene:693156, RefSeq DNA:NT_037622, RefSeq RNA:NR_030297 No chr4 343946 344041 350157 350252 +PA164722869 693157 HGNC:32828 ENSG00000207716 microRNA 572 MIR572 hsa-mir-572 Yes No Ensembl:ENSG00000207716, GeneCard:MIR572, HGNC:HGNC:32828, NCBI Gene:693157, RefSeq DNA:NT_006316, RefSeq RNA:NR_030298 No chr4 11370451 11370545 11368827 11368921 +PA164722870 693158 HGNC:32829 ENSG00000207697 microRNA 573 MIR573 hsa-mir-573 Yes No Ensembl:ENSG00000207697, GeneCard:MIR573, HGNC:HGNC:32829, NCBI Gene:693158, RefSeq DNA:NT_006316, RefSeq RNA:NR_030299 No chr4 24521815 24521913 24520192 24520290 +PA164722871 693159 HGNC:32830 ENSG00000207944 microRNA 574 MIR574 hsa-mir-574 Yes No Ensembl:ENSG00000207944, GeneCard:MIR574, HGNC:HGNC:32830, NCBI Gene:693159, RefSeq RNA:NR_030300 No chr4 38869653 38869748 38868032 38868127 +PA164722872 693160 HGNC:32831 ENSG00000207746 microRNA 575 MIR575 hsa-mir-575 Yes No Ensembl:ENSG00000207746, GeneCard:MIR575, HGNC:HGNC:32831, NCBI Gene:693160, RefSeq DNA:NT_016354, RefSeq RNA:NR_030301 No chr4 83674490 83674583 82753337 82753430 +PA164722873 693161 HGNC:32832 ENSG00000207988 microRNA 576 MIR576 hsa-mir-576 Yes No Ensembl:ENSG00000207988, GeneCard:MIR576, HGNC:HGNC:32832, NCBI Gene:693161, RefSeq RNA:NR_030302 No chr4 110409854 110409951 109488698 109488795 +PA164722874 693162 HGNC:32833 ENSG00000207931 microRNA 577 MIR577 hsa-mir-577 Yes Yes Ensembl:ENSG00000207931, GeneCard:MIR577, HGNC:HGNC:32833, NCBI Gene:693162, RefSeq DNA:NT_016354, RefSeq RNA:NR_030303 No chr4 115577915 115578010 114656759 114656854 +PA164722875 693163 HGNC:32834 ENSG00000207559 microRNA 578 MIR578 hsa-mir-578 Yes No Ensembl:ENSG00000207559, GeneCard:MIR578, HGNC:HGNC:32834, NCBI Gene:693163, RefSeq DNA:NT_016354, RefSeq RNA:NR_030304 No chr4 166307394 166307489 165386242 165386337 +PA164722876 693164 HGNC:32835 ENSG00000207956 microRNA 579 MIR579 hsa-mir-579 Yes No Ensembl:ENSG00000207956, GeneCard:MIR579, HGNC:HGNC:32835, NCBI Gene:693164, RefSeq DNA:NT_006576, RefSeq RNA:NR_030305 No chr5 32394484 32394581 32394378 32394475 +PA164722877 693165 HGNC:32836 ENSG00000207756 microRNA 580 MIR580 hsa-mir-580 Yes No Ensembl:ENSG00000207756, GeneCard:MIR580, HGNC:HGNC:32836, NCBI Gene:693165, RefSeq DNA:NT_006576, RefSeq RNA:NR_030306 No chr5 36147994 36148090 36147892 36147988 +PA164722878 693166 HGNC:32837 ENSG00000207627 microRNA 581 MIR581 hsa-mir-581 Yes No Ensembl:ENSG00000207627, GeneCard:MIR581, HGNC:HGNC:32837, NCBI Gene:693166, RefSeq DNA:NT_006713, RefSeq RNA:NR_030307 No chr5 53247334 53247429 53951504 53951599 +PA164722879 693167 HGNC:32838 ENSG00000202601 microRNA 582 MIR582 hsa-mir-582 Yes No Ensembl:ENSG00000202601, GeneCard:MIR582, HGNC:HGNC:32838, NCBI Gene:693167, RefSeq DNA:NT_006713, RefSeq RNA:NR_030308 No chr5 58999432 58999529 59703606 59703703 +PA164722880 693168 HGNC:32839 ENSG00000207578 microRNA 583 MIR583 hsa-mir-583 Yes No Ensembl:ENSG00000207578, GeneCard:MIR583, HGNC:HGNC:32839, NCBI Gene:693168, RefSeq DNA:NT_034772, RefSeq RNA:NR_030309 No chr5 95414842 95414916 96079138 96079212 +PA164722881 693169 HGNC:32840 ENSG00000207714 microRNA 584 MIR584 hsa-mir-584 Yes No Ensembl:ENSG00000207714, GeneCard:MIR584, HGNC:HGNC:32840, NCBI Gene:693169, RefSeq DNA:NT_029289, RefSeq RNA:NR_030310 No chr5 148441876 148441972 149062313 149062409 +PA164722882 693170 HGNC:32841 ENSG00000207619 microRNA 585 MIR585 hsa-mir-585 Yes No Ensembl:ENSG00000207619, GeneCard:MIR585, HGNC:HGNC:32841, NCBI Gene:693170, RefSeq DNA:NT_023133, RefSeq RNA:NR_030311 No chr5 168690605 168690698 169263601 169263694 +PA164722883 693171 HGNC:32842 ENSG00000207769 microRNA 586 MIR586 hsa-mir-586 Yes No Ensembl:ENSG00000207769, GeneCard:MIR586, HGNC:HGNC:32842, NCBI Gene:693171, RefSeq DNA:NT_007592, RefSeq RNA:NR_030313 No chr6 45165411 45165507 45197674 45197770 +PA164722884 693172 HGNC:32843 ENSG00000207577 microRNA 587 MIR587 hsa-mir-587 Yes No Ensembl:ENSG00000207577, GeneCard:MIR587, HGNC:HGNC:32843, NCBI Gene:693172, RefSeq DNA:NT_025741, RefSeq RNA:NR_030314 No chr6 107232000 107232095 106784125 106784220 +PA164722885 693173 HGNC:32844 ENSG00000207632 microRNA 588 MIR588 hsa-mir-588 Yes No Ensembl:ENSG00000207632, GeneCard:MIR588, HGNC:HGNC:32844, NCBI Gene:693173, RefSeq DNA:NT_025741, RefSeq RNA:NR_030316 No chr6 126805777 126805859 126484631 126484713 +PA164722886 693174 HGNC:32845 ENSG00000207973 microRNA 589 MIR589 hsa-mir-589 Yes No Ensembl:ENSG00000207973, GeneCard:MIR589, HGNC:HGNC:32845, NCBI Gene:693174, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_030318 No chr7 5535450 5535548 5495819 5495917 +PA164722887 693175 HGNC:32846 ENSG00000207741 microRNA 590 MIR590 hsa-mir-590 Yes No Ensembl:ENSG00000207741, GeneCard:MIR590, HGNC:HGNC:32846, NCBI Gene:693175, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq RNA:NR_030321 No chr7 73605528 73605624 74191198 74191294 +PA164722888 693176 HGNC:32847 ENSG00000208025 microRNA 591 MIR591 hsa-mir-591 Yes No Ensembl:ENSG00000208025, GeneCard:MIR591, HGNC:HGNC:32847, NCBI Gene:693176, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_030322 No chr7 95848974 95849068 96219662 96219756 +PA164722889 693177 HGNC:32848 ENSG00000207692 microRNA 592 MIR592 hsa-mir-592 Yes No Ensembl:ENSG00000207692, GeneCard:MIR592, HGNC:HGNC:32848, NCBI Gene:693177, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_030323 No chr7 126698142 126698238 127058088 127058184 +PA164722890 693178 HGNC:32849 ENSG00000207588 microRNA 593 MIR593 hsa-mir-593 Yes No Ensembl:ENSG00000207588, GeneCard:MIR593, HGNC:HGNC:32849, NCBI Gene:693178, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_030324 No chr7 127721913 127722012 128081861 128081960 +PA164722891 693180 HGNC:32851 ENSG00000207637 microRNA 595 MIR595 hsa-mir-595 Yes Yes Ensembl:ENSG00000207637, GeneCard:MIR595, HGNC:HGNC:32851, NCBI Gene:693180, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq RNA:NR_030325 No chr7 158325410 158325505 158532718 158532813 +PA164722892 693181 HGNC:32852 ENSG00000207826 microRNA 596 MIR596 hsa-mir-596 Yes No Ensembl:ENSG00000207826, GeneCard:MIR596, HGNC:HGNC:32852, NCBI Gene:693181, RefSeq DNA:NT_023736, RefSeq RNA:NR_030326 No chr8 1765397 1765473 1817231 1817307 +PA164722893 693182 HGNC:32853 ENSG00000207701 microRNA 597 MIR597 hsa-mir-597 Yes No Ensembl:ENSG00000207701, GeneCard:MIR597, HGNC:HGNC:32853, NCBI Gene:693182, RefSeq DNA:NT_077531, RefSeq RNA:NR_030327 No chr8 9599182 9599278 9741672 9741768 +PA164722894 693183 HGNC:32854 ENSG00000207600 microRNA 598 MIR598 hsa-mir-598 Yes No Ensembl:ENSG00000207600, GeneCard:MIR598, HGNC:HGNC:32854, NCBI Gene:693183, RefSeq DNA:NT_077531, RefSeq RNA:NR_030328 No chr8 10892716 10892812 11035206 11035302 +PA164722895 693184 HGNC:32855 ENSG00000207804 microRNA 599 MIR599 hsa-mir-599 Yes No Ensembl:ENSG00000207804, GeneCard:MIR599, HGNC:HGNC:32855, NCBI Gene:693184, RefSeq DNA:NT_008046, RefSeq RNA:NR_030329 No chr8 100548864 100548958 99536636 99536730 +PA164722896 693185 HGNC:32856 ENSG00000283941 microRNA 600 MIR600 hsa-mir-600 Yes No Ensembl:ENSG00000283941, GeneCard:MIR600, HGNC:HGNC:32856, NCBI Gene:693185, RefSeq DNA:NT_008470, RefSeq RNA:NR_030331 No chr9 125873825 125873922 123111546 123111643 +PA134911672 81571 HGNC:23642 ENSG00000236901 MIR600 host gene (non-protein coding) MIR600HG FLJ22161, GL012 Yes No Ensembl:ENSG00000236901, GeneCard:C9orf45, HGNC:HGNC:23642, NCBI Gene:81571, RefSeq DNA:NT_008470, RefSeq RNA:NR_026677 No chr9 125871773 125877756 123109494 123115477 +PA164722897 693186 HGNC:32857 ENSG00000207991 microRNA 601 MIR601 hsa-mir-601 Yes No Ensembl:ENSG00000207991, GeneCard:MIR601, HGNC:HGNC:32857, NCBI Gene:693186, RefSeq DNA:NT_008470, RefSeq RNA:NR_030332 No chr9 126164804 126164882 123402525 123402603 +PA164722898 693187 HGNC:32858 ENSG00000207693 microRNA 602 MIR602 hsa-mir-602 Yes No Ensembl:ENSG00000207693, GeneCard:MIR602, HGNC:HGNC:32858, NCBI Gene:693187, RefSeq DNA:NT_024000, RefSeq RNA:NR_030333 No chr9 140732871 140732968 137838419 137838516 +PA164722899 693188 HGNC:32859 ENSG00000207930 microRNA 603 MIR603 hsa-mir-603 Yes No Ensembl:ENSG00000207930, GeneCard:MIR603, HGNC:HGNC:32859, NCBI Gene:693188, RefSeq RNA:NR_030334 No chr10 24564614 24564710 24275685 24275781 +PA164722900 693189 HGNC:32860 ENSG00000207612 microRNA 604 MIR604 hsa-mir-604 Yes Yes Ensembl:ENSG00000207612, GeneCard:MIR604, HGNC:HGNC:32860, NCBI Gene:693189, RefSeq DNA:NT_008705, RefSeq RNA:NR_030335 No chr10 29833933 29834026 29545004 29545097 +PA164722901 693190 HGNC:32861 ENSG00000207813 microRNA 605 MIR605 hsa-mir-605 Yes No Ensembl:ENSG00000207813, GeneCard:MIR605, HGNC:HGNC:32861, NCBI Gene:693190, RefSeq DNA:NT_030059, RefSeq RNA:NR_030336 No chr10 53059333 53059415 51299573 51299655 +PA164722902 693191 HGNC:32862 ENSG00000207583 microRNA 606 MIR606 hsa-mir-606 Yes No Ensembl:ENSG00000207583, GeneCard:MIR606, HGNC:HGNC:32862, NCBI Gene:693191, RefSeq DNA:NT_030059, RefSeq RNA:NR_030337 No chr10 77312216 77312311 75552458 75552553 +PA164722903 693192 HGNC:32863 ENSG00000207976 microRNA 607 MIR607 hsa-mir-607 Yes No Ensembl:ENSG00000207976, GeneCard:MIR607, HGNC:HGNC:32863, NCBI Gene:693192, RefSeq RNA:NR_030338 No chr10 98588426 98588521 96828669 96828764 +PA166176239 102464828 HGNC:50232 ENSG00000278038 microRNA 6076 MIR6076 hsa-mir-6076 Yes Yes Ensembl:ENSG00000278038, HGNC:HGNC:50232, NCBI Gene:102464828 No chr14 +PA164722904 693193 HGNC:32864 ENSG00000207551 microRNA 608 MIR608 hsa-mir-608 Yes No Ensembl:ENSG00000207551, GeneCard:MIR608, HGNC:HGNC:32864, NCBI Gene:693193, RefSeq DNA:NT_030059, RefSeq RNA:NR_030339 No chr10 102734742 102734841 100974985 100975084 +PA164722905 693194 HGNC:32865 ENSG00000208033 microRNA 609 MIR609 hsa-mir-609 Yes No Ensembl:ENSG00000208033, GeneCard:MIR609, HGNC:HGNC:32865, NCBI Gene:693194, RefSeq DNA:NT_030059, RefSeq RNA:NR_030340 No chr10 105978547 105978641 104218789 104218883 +PA164722906 693195 HGNC:32866 ENSG00000207874 microRNA 610 MIR610 hsa-mir-610 Yes No Ensembl:ENSG00000207874, GeneCard:MIR610, HGNC:HGNC:32866, NCBI Gene:693195, OMIM:612330, RefSeq DNA:NT_009237, RefSeq RNA:NR_030341 No chr11 28078362 28078457 28056815 28056910 +PA164722907 693196 HGNC:32867 ENSG00000284108 microRNA 611 MIR611 hsa-mir-611 Yes Yes Ensembl:ENSG00000284108, GeneCard:MIR611, HGNC:HGNC:32867, NCBI Gene:693196, RefSeq DNA:NT_167190, RefSeq RNA:NR_030342 No chr11 61559967 61560033 61792495 61792561 +PA164722908 693197 HGNC:32868 ENSG00000283791 microRNA 612 MIR612 hsa-mir-612 Yes No Ensembl:ENSG00000283791, GeneCard:MIR612, HGNC:HGNC:32868, NCBI Gene:693197, RefSeq DNA:NT_167190, RefSeq RNA:NR_030343 No chr11 65211929 65212028 65444458 65444557 +PA164722909 693198 HGNC:32869 ENSG00000207983 microRNA 613 MIR613 hsa-mir-613 Yes No Ensembl:ENSG00000207983, GeneCard:MIR613, HGNC:HGNC:32869, NCBI Gene:693198, RefSeq DNA:NT_009714, RefSeq RNA:NR_030344 No chr12 12917583 12917677 12764649 12764743 +PA164722910 693199 HGNC:32870 ENSG00000283759 microRNA 614 MIR614 hsa-mir-614 Yes No Ensembl:ENSG00000283759, GeneCard:MIR614, HGNC:HGNC:32870, NCBI Gene:693199, RefSeq DNA:NT_009714, RefSeq RNA:NR_030345 No chr12 13068763 13068852 12915829 12915918 +PA164722911 693200 HGNC:32871 ENSG00000207571 microRNA 615 MIR615 hsa-mir-615 Yes No Ensembl:ENSG00000207571, GeneCard:MIR615, HGNC:HGNC:32871, NCBI Gene:693200, RefSeq DNA:NT_029419, RefSeq RNA:NR_030753 No chr12 54427734 54427829 54033950 54034045 +PA164722912 693201 HGNC:32872 ENSG00000208028 microRNA 616 MIR616 hsa-mir-616 Yes No Ensembl:ENSG00000208028, GeneCard:MIR616, HGNC:HGNC:32872, NCBI Gene:693201, RefSeq DNA:NT_029419, RefSeq RNA:NR_030346 No chr12 57912946 57913042 57519163 57519259 +PA164722913 693202 HGNC:32873 ENSG00000207763 microRNA 617 MIR617 hsa-mir-617 Yes No Ensembl:ENSG00000207763, GeneCard:MIR617, HGNC:HGNC:32873, NCBI Gene:693202, RefSeq DNA:NT_029419, RefSeq RNA:NR_030348 No chr12 81226312 81226408 80832533 80832629 +PA164722914 693203 HGNC:32874 ENSG00000208022 microRNA 618 MIR618 hsa-mir-618 Yes Yes Ensembl:ENSG00000208022, GeneCard:MIR618, HGNC:HGNC:32874, NCBI Gene:693203, RefSeq DNA:NT_029419, RefSeq RNA:NR_030349 No chr12 81329515 81329612 80935736 80935833 +PA164722915 693204 HGNC:32875 ENSG00000207622 microRNA 619 MIR619 hsa-mir-619 Yes No Ensembl:ENSG00000207622, GeneCard:MIR619, HGNC:HGNC:32875, NCBI Gene:693204, RefSeq DNA:NT_029419, RefSeq RNA:NR_030350 No chr12 109230684 109230782 108836908 108837006 +PA164722916 693205 HGNC:32876 ENSG00000207967 microRNA 620 MIR620 hsa-mir-620 Yes No Ensembl:ENSG00000207967, GeneCard:MIR620, HGNC:HGNC:32876, NCBI Gene:693205, RefSeq RNA:NR_030351 No chr12 116586365 116586459 116148560 116148654 +PA164722917 693206 HGNC:32877 ENSG00000207652 microRNA 621 MIR621 hsa-mir-621 Yes No Ensembl:ENSG00000207652, GeneCard:MIR621, HGNC:HGNC:32877, NCBI Gene:693206, RefSeq DNA:NT_024524, RefSeq RNA:NR_030352 No chr13 41384902 41384997 40810766 40810861 +PA164722918 693207 HGNC:32878 ENSG00000283783 microRNA 622 MIR622 hsa-mir-622 Yes No Ensembl:ENSG00000283783, GeneCard:MIR622, HGNC:HGNC:32878, NCBI Gene:693207, RefSeq DNA:NT_009952, RefSeq RNA:NR_030754 No chr13 90883436 90883531 90231182 90231277 +PA164722919 693208 HGNC:32879 ENSG00000207719 microRNA 623 MIR623 hsa-mir-623 Yes No Ensembl:ENSG00000207719, GeneCard:MIR623, HGNC:HGNC:32879, NCBI Gene:693208, RefSeq DNA:NT_009952, RefSeq RNA:NR_030353 No chr13 100008385 100008482 99356131 99356228 +PA164722920 693209 HGNC:32880 ENSG00000207952 microRNA 624 MIR624 hsa-mir-624 Yes No Ensembl:ENSG00000207952, GeneCard:MIR624, HGNC:HGNC:32880, NCBI Gene:693209, RefSeq DNA:NT_026437, RefSeq RNA:NR_030354 No chr14 31483852 31483948 31014646 31014742 +PA164722921 693210 HGNC:32881 ENSG00000207781 microRNA 625 MIR625 hsa-mir-625 Yes No Ensembl:ENSG00000207781, GeneCard:MIR625, HGNC:HGNC:32881, NCBI Gene:693210, RefSeq DNA:NT_026437, RefSeq RNA:NR_030355 No chr14 65937820 65937904 65471102 65471186 +PA164722922 693211 HGNC:32882 ENSG00000207766 microRNA 626 MIR626 hsa-mir-626 Yes No Ensembl:ENSG00000207766, GeneCard:MIR626, HGNC:HGNC:32882, NCBI Gene:693211, RefSeq DNA:NT_010194, RefSeq RNA:NR_030356 No chr15 41983783 41983876 41691585 41691678 +PA164722923 693212 HGNC:32883 ENSG00000207712 microRNA 627 MIR627 hsa-mir-627 Yes No Ensembl:ENSG00000207712, GeneCard:MIR627, HGNC:HGNC:32883, NCBI Gene:693212, RefSeq DNA:NT_010194, RefSeq RNA:NR_030357 No chr15 42491768 42491864 42199570 42199666 +PA164722924 693213 HGNC:32884 ENSG00000283891 microRNA 628 MIR628 hsa-mir-628 Yes No Ensembl:ENSG00000283891, GeneCard:MIR628, HGNC:HGNC:32884, NCBI Gene:693213, RefSeq DNA:NT_010194, RefSeq RNA:NR_030358 No chr15 55665138 55665232 55372940 55373034 +PA164722925 693214 HGNC:32885 ENSG00000207965 microRNA 629 MIR629 hsa-mir-629 Yes No Ensembl:ENSG00000207965, GeneCard:MIR629, HGNC:HGNC:32885, NCBI Gene:693214, RefSeq DNA:NT_010194, RefSeq RNA:NR_030714 No chr15 70371711 70371807 70079372 70079468 +PA164722926 693215 HGNC:32886 ENSG00000283798 microRNA 630 MIR630 hsa-mir-630 Yes No Ensembl:ENSG00000283798, GeneCard:MIR630, HGNC:HGNC:32886, NCBI Gene:693215, RefSeq DNA:NT_010194, RefSeq RNA:NR_030359 No chr15 72879558 72879654 72587217 72587313 +PA164722927 693216 HGNC:32887 ENSG00000284343 microRNA 631 MIR631 hsa-mir-631 Yes No Ensembl:ENSG00000284343, GeneCard:MIR631, HGNC:HGNC:32887, NCBI Gene:693216, RefSeq DNA:NT_010194, RefSeq RNA:NR_030360 No chr15 75645952 75646026 75353611 75353685 +PA164722928 693217 HGNC:32888 ENSG00000283774 microRNA 632 MIR632 hsa-mir-632 Yes No Ensembl:ENSG00000283774, GeneCard:MIR632, HGNC:HGNC:32888, NCBI Gene:693217, RefSeq DNA:NT_010799, RefSeq RNA:NR_030362 No chr17 30677128 30677221 32350109 32350202 +PA164722929 693218 HGNC:32889 ENSG00000207552 microRNA 633 MIR633 hsa-mir-633 Yes No Ensembl:ENSG00000207552, GeneCard:MIR633, HGNC:HGNC:32889, NCBI Gene:693218, RefSeq DNA:NT_010783, RefSeq RNA:NR_030363 No chr17 61021576 61021673 62944215 62944312 +PA164722930 693219 HGNC:32890 ENSG00000207943 microRNA 634 MIR634 hsa-mir-634 Yes No Ensembl:ENSG00000207943, GeneCard:MIR634, HGNC:HGNC:32890, NCBI Gene:693219, RefSeq DNA:NT_010783, RefSeq RNA:NR_030364 No chr17 64783190 64783286 66787072 66787168 +PA164722931 693220 HGNC:32891 ENSG00000207561 microRNA 635 MIR635 hsa-mir-635 Yes No Ensembl:ENSG00000207561, GeneCard:MIR635, HGNC:HGNC:32891, NCBI Gene:693220, RefSeq DNA:NT_010783, RefSeq RNA:NR_030365 No chr17 66420592 66420689 68424451 68424548 +PA164722932 693221 HGNC:32892 ENSG00000283805 microRNA 636 MIR636 hsa-mir-636 Yes No Ensembl:ENSG00000283805, GeneCard:MIR636, HGNC:HGNC:32892, NCBI Gene:693221, RefSeq DNA:NT_010783, RefSeq RNA:NR_030366 No chr17 74732532 74732630 76736450 76736548 +PA164722933 693222 HGNC:32893 ENSG00000283928 microRNA 637 MIR637 hsa-mir-637 Yes No Ensembl:ENSG00000283928, GeneCard:MIR637, HGNC:HGNC:32893, NCBI Gene:693222, RefSeq DNA:NT_011255, RefSeq RNA:NR_030367 No chr19 3961412 3961510 3961414 3961512 +PA164722934 693223 HGNC:32894 ENSG00000207972 microRNA 638 MIR638 hsa-mir-638 Yes No Ensembl:ENSG00000207972, GeneCard:MIR638, HGNC:HGNC:32894, NCBI Gene:693223, RefSeq DNA:NT_011295, RefSeq RNA:NR_030368 No chr19 10829080 10829179 10718404 10718503 +PA164722935 693224 HGNC:32895 ENSG00000283822 microRNA 639 MIR639 hsa-mir-639 Yes No Ensembl:ENSG00000283822, GeneCard:MIR639, HGNC:HGNC:32895, NCBI Gene:693224, RefSeq DNA:NT_011295, RefSeq RNA:NR_030369 No chr19 14640355 14640452 14529543 14529640 +PA164722936 693225 HGNC:32896 ENSG00000207821 microRNA 640 MIR640 hsa-mir-640 Yes No Ensembl:ENSG00000207821, GeneCard:MIR640, HGNC:HGNC:32896, NCBI Gene:693225, RefSeq DNA:NT_011295, RefSeq RNA:NR_030370 No chr19 19545872 19545967 19435063 19435158 +PA164722937 693226 HGNC:32897 ENSG00000207631 microRNA 641 MIR641 hsa-mir-641 Yes No Ensembl:ENSG00000207631, GeneCard:MIR641, HGNC:HGNC:32897, NCBI Gene:693226, RefSeq DNA:NT_011109, RefSeq RNA:NR_030371 No chr19 40788450 40788548 40282543 40282641 +PA164722938 693227 HGNC:32898 ENSG00000207773 microRNA 642a MIR642A hsa-mir-642 Yes No Ensembl:ENSG00000207773, GeneCard:MIR642A, HGNC:HGNC:32898, NCBI Gene:693227, RefSeq DNA:NT_011109, RefSeq RNA:NR_030372 No chr19 46178186 46178282 45674928 45675024 +PA164722939 693228 HGNC:32899 ENSG00000208002 microRNA 643 MIR643 hsa-mir-643 Yes No Ensembl:ENSG00000208002, GeneCard:MIR643, HGNC:HGNC:32899, NCBI Gene:693228, RefSeq DNA:NT_011109, RefSeq RNA:NR_030373 No chr19 52785050 52785146 52281797 52281893 +PA164722940 693229 HGNC:32900 ENSG00000207997 microRNA 644a MIR644A hsa-mir-644 Yes No Ensembl:ENSG00000207997, GeneCard:MIR644A, HGNC:HGNC:32900, NCBI Gene:693229, RefSeq DNA:NT_011362, RefSeq RNA:NR_030374 No chr20 33054130 33054223 34466325 34466418 +PA164722941 693230 HGNC:32901 ENSG00000208018 microRNA 645 MIR645 hsa-mir-645 Yes No Ensembl:ENSG00000208018, GeneCard:MIR645, HGNC:HGNC:32901, NCBI Gene:693230, RefSeq DNA:NT_011362, RefSeq RNA:NR_030375 No chr20 49202323 49202416 50585786 50585879 +PA164722942 693231 HGNC:32902 ENSG00000207802 microRNA 646 MIR646 hsa-mir-646 Yes No Ensembl:ENSG00000207802, GeneCard:MIR646, HGNC:HGNC:32902, NCBI Gene:693231, RefSeq DNA:NT_011362, RefSeq RNA:NR_030376 No chr20 58883532 58883625 60308474 60308567 +PA164722943 693232 HGNC:32903 ENSG00000207554 microRNA 647 MIR647 hsa-mir-647 Yes No Ensembl:ENSG00000207554, GeneCard:MIR647, HGNC:HGNC:32903, NCBI Gene:693232, RefSeq DNA:NT_011333, RefSeq RNA:NR_030377 No chr20 62573984 62574079 63942631 63942726 +PA164722944 693233 HGNC:32904 ENSG00000207780 microRNA 648 MIR648 hsa-mir-648 Yes No Ensembl:ENSG00000207780, GeneCard:MIR648, HGNC:HGNC:32904, NCBI Gene:693233, RefSeq DNA:NT_011519, RefSeq RNA:NR_030378 No chr22 18463634 18463727 17980868 17980961 +PA164722945 693234 HGNC:32905 ENSG00000207575 microRNA 649 MIR649 hsa-mir-649 Yes No Ensembl:ENSG00000207575, GeneCard:MIR649, HGNC:HGNC:32905, NCBI Gene:693234, RefSeq RNA:NR_030379 No chr22 21388465 21388561 21034176 21034272 +PA164722946 723778 HGNC:32906 ENSG00000284049 microRNA 650 MIR650 hsa-mir-650 Yes No Ensembl:ENSG00000284049, GeneCard:MIR650, HGNC:HGNC:32906, NCBI Gene:723778, RefSeq DNA:NT_011520, RefSeq RNA:NR_030755 No chr22 23165270 23165365 22822776 22822871 +PA164722947 723779 HGNC:32907 ENSG00000207628 microRNA 651 MIR651 hsa-mir-651 Yes No Ensembl:ENSG00000207628, GeneCard:MIR651, HGNC:HGNC:32907, NCBI Gene:723779, RefSeq DNA:NT_167197, RefSeq RNA:NR_030380 No chrX 8095006 8095102 8126965 8127061 +PA164722948 724022 HGNC:32908 ENSG00000208013 microRNA 652 MIR652 hsa-mir-652 Yes No Ensembl:ENSG00000208013, GeneCard:MIR652, HGNC:HGNC:32908, NCBI Gene:724022, RefSeq DNA:NT_011651, RefSeq RNA:NR_030381 No chrX 109298557 109298654 110055329 110055426 +PA164722949 724023 HGNC:32909 ENSG00000208014 microRNA 653 MIR653 hsa-mir-653 Yes No Ensembl:ENSG00000208014, GeneCard:MIR653, HGNC:HGNC:32909, NCBI Gene:724023, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_030388 No chr7 93112072 93112167 93482760 93482855 +PA164722950 724024 HGNC:32910 ENSG00000207934 microRNA 654 MIR654 hsa-mir-654 Yes No Ensembl:ENSG00000207934, GeneCard:MIR654, HGNC:HGNC:32910, NCBI Gene:724024, RefSeq DNA:NT_026437, RefSeq RNA:NR_030390 No chr14 101506556 101506636 101040219 101040299 +PA164722951 724025 HGNC:32911 ENSG00000207646 microRNA 655 MIR655 hsa-mir-655 Yes No Ensembl:ENSG00000207646, GeneCard:MIR655, HGNC:HGNC:32911, NCBI Gene:724025, RefSeq DNA:NT_026437, RefSeq RNA:NR_030391 No chr14 101515887 101515983 101049550 101049646 +PA164722952 724026 HGNC:32912 ENSG00000207959 microRNA 656 MIR656 hsa-mir-656 Yes No Ensembl:ENSG00000207959, GeneCard:MIR656, HGNC:HGNC:32912, NCBI Gene:724026, RefSeq DNA:NT_026437, RefSeq RNA:NR_030392 No chr14 101533061 101533138 101066724 101066801 +PA164722953 724027 HGNC:32913 ENSG00000207736 microRNA 657 MIR657 hsa-mir-657 Yes No Ensembl:ENSG00000207736, GeneCard:MIR657, HGNC:HGNC:32913, NCBI Gene:724027, RefSeq DNA:NT_010783, RefSeq RNA:NR_030394 No chr17 79099076 79099173 81125276 81125373 +PA164722954 724028 HGNC:32914 ENSG00000284197 microRNA 658 MIR658 hsa-mir-658 Yes No Ensembl:ENSG00000284197, GeneCard:MIR658, HGNC:HGNC:32914, NCBI Gene:724028, RefSeq DNA:NT_011520, RefSeq RNA:NR_030395 No chr22 38240279 38240378 37844272 37844371 +PA164722955 724029 HGNC:32915 ENSG00000207696 microRNA 659 MIR659 hsa-mir-659 Yes No Ensembl:ENSG00000207696, GeneCard:MIR659, HGNC:HGNC:32915, NCBI Gene:724029, RefSeq DNA:NT_011520, RefSeq RNA:NR_030396 No chr22 38243685 38243781 37847678 37847774 +PA164722956 724030 HGNC:32916 ENSG00000207970 microRNA 660 MIR660 hsa-mir-660 Yes No Ensembl:ENSG00000207970, GeneCard:MIR660, HGNC:HGNC:32916, NCBI Gene:724030, RefSeq DNA:NT_086939, RefSeq RNA:NR_030397 No chrX 49777849 49777945 50013241 50013337 +PA164722957 724031 HGNC:32917 ENSG00000207574 microRNA 661 MIR661 hsa-mir-661 Yes No Ensembl:ENSG00000207574, GeneCard:MIR661, HGNC:HGNC:32917, NCBI Gene:724031, RefSeq DNA:NT_008046, RefSeq RNA:NR_030383 No chr8 145019359 145019447 143945191 143945279 +PA164722958 724032 HGNC:32918 ENSG00000207579 microRNA 662 MIR662 hsa-mir-662 Yes No Ensembl:ENSG00000207579, GeneCard:MIR662, HGNC:HGNC:32918, NCBI Gene:724032, RefSeq DNA:NT_010393, RefSeq RNA:NR_030384 No chr16 820183 820277 770183 770277 +PA164722959 724033 HGNC:32919 ENSG00000284419 microRNA 663a MIR663A hsa-mir-663 Yes No Ensembl:ENSG00000284419, GeneCard:MIR663A, HGNC:HGNC:32919, NCBI Gene:724033, RefSeq DNA:NT_011387, RefSeq RNA:NR_030386 No chr20 26188822 26188914 26208186 26208278 +PA164722960 100313824 HGNC:35270 ENSG00000221288 microRNA 663b MIR663B hsa-mir-663b Yes No Ensembl:ENSG00000221288, HGNC:HGNC:35270, NCBI Gene:100313824 No chr2 133014539 133014653 132256966 132257080 +PA164722962 100126315 HGNC:33662 ENSG00000283159 microRNA 665 MIR665 hsa-mir-665 Yes No Ensembl:ENSG00000283159, GeneCard:MIR665, HGNC:HGNC:33662, NCBI Gene:100126315, RefSeq DNA:NT_026437, RefSeq RNA:NR_030617 No chr14 101341370 101341441 100875033 100875104 +PA164722963 768214 HGNC:33135 ENSG00000276352 microRNA 668 MIR668 hsa-mir-668 Yes No Ensembl:ENSG00000276352, GeneCard:MIR668, HGNC:HGNC:33135, NCBI Gene:768214, RefSeq DNA:NT_026437, RefSeq RNA:NR_030408 No chr14 101521595 101521660 101055258 101055323 +PA165543478 100313777 HGNC:37304 ENSG00000211568 microRNA 670 MIR670 hsa-mir-670 Yes No Ensembl:ENSG00000211568, GeneCard:MIR670, HGNC:HGNC:37304, NCBI Gene:100313777, RefSeq RNA:NR_031577 No chr11 43581206 43581303 43559656 43559753 +PA164722964 768213 HGNC:33134 ENSG00000284191 microRNA 671 MIR671 hsa-mir-671 Yes No Ensembl:ENSG00000284191, GeneCard:MIR671, HGNC:HGNC:33134, NCBI Gene:768213, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq RNA:NR_030407 No chr7 150935507 150935624 151238421 151238538 +PA164722965 100033819 HGNC:33351 ENSG00000284010 microRNA 675 MIR675 hsa-mir-675 Yes No Ensembl:ENSG00000284010, GeneCard:MIR675, HGNC:HGNC:33351, NCBI Gene:100033819, RefSeq DNA:NT_009237, RefSeq RNA:NR_030533 No chr11 2017989 2018061 1996759 1996831 +PA164722969 100126333 HGNC:33654 ENSG00000211997 microRNA 708 MIR708 hsa-mir-708 Yes No Ensembl:ENSG00000211997, GeneCard:MIR708, HGNC:HGNC:33654, NCBI Gene:100126333, RefSeq DNA:NT_167190, RefSeq RNA:NR_030598 No chr11 79113066 79113153 79402022 79402109 +PA164722966 407043 HGNC:31638 ENSG00000284179 microRNA 7-1 MIR7-1 hsa-mir-7-1 Yes No Ensembl:ENSG00000284179, GeneCard:MIR7-1, HGNC:HGNC:31638, NCBI Gene:407043, RefSeq DNA:NT_008470, RefSeq RNA:NR_029605 No chr9 86584663 86584772 83969748 83969857 +PA165697845 100313843 HGNC:37316 ENSG00000284251 microRNA 711 MIR711 hsa-mir-711 Yes No Ensembl:ENSG00000284251, GeneCard:MIR711, HGNC:HGNC:37316, NCBI Gene:100313843, RefSeq RNA:NR_031756 No chr3 48616335 48616410 48578902 48578977 +PA165756989 100313781 HGNC:37317 ENSG00000284286 microRNA 718 MIR718 hsa-mir-718 Yes No Ensembl:ENSG00000284286, GeneCard:MIR718, HGNC:HGNC:37317, NCBI Gene:100313781, RefSeq RNA:NR_031757 No chrX 153285371 153285440 154019920 154019989 +PA164722967 407044 HGNC:31639 ENSG00000207703 microRNA 7-2 MIR7-2 hsa-mir-7-2 Yes Yes Ensembl:ENSG00000207703, GeneCard:MIR7-2, HGNC:HGNC:31639, NCBI Gene:407044, RefSeq DNA:NT_010274, RefSeq RNA:NR_029606 No chr15 89155056 89155165 88611825 88611934 +PA164722968 407045 HGNC:31640 ENSG00000207630 microRNA 7-3 MIR7-3 hsa-mir-7-3 Yes No Ensembl:ENSG00000207630, GeneCard:MIR7-3, HGNC:HGNC:31640, NCBI Gene:407045, RefSeq DNA:NT_011255, RefSeq RNA:NR_029607 No chr19 4770682 4770791 4770670 4770779 +PA134866457 284424 HGNC:30049 ENSG00000176840 MIR7-3 host gene (non-protein coding) MIR7-3HG pituitary gland specific factor 1a, pituitary gland specific factor 1b PGSF1, PGSF1a, PGSF1b Yes No Ensembl:ENSG00000176840, GeneCard:C19orf30, HGNC:HGNC:30049, NCBI Gene:284424, RefSeq DNA:NT_011255, RefSeq RNA:NR_027148 No chr19 4769117 4772568 4769105 4772556 +PA164722971 100126313 HGNC:33658 ENSG00000266297 microRNA 744 MIR744 hsa-mir-744 Yes No Ensembl:ENSG00000266297, GeneCard:MIR744, HGNC:HGNC:33658, NCBI Gene:100126313, RefSeq DNA:NT_010718, RefSeq RNA:NR_030613 No chr17 11985216 11985313 12081899 12081996 +PA164722972 768212 HGNC:33133 ENSG00000211582 microRNA 758 MIR758 hsa-mir-758 Yes No Ensembl:ENSG00000211582, GeneCard:MIR758, HGNC:HGNC:33133, NCBI Gene:768212, RefSeq DNA:NT_026437, RefSeq RNA:NR_030406 No chr14 101492357 101492444 101026020 101026107 +PA165505193 100313778 HGNC:37307 ENSG00000211579 microRNA 759 MIR759 hsa-mir-759 Yes No Ensembl:ENSG00000211579, GeneCard:MIR759, HGNC:HGNC:37307, NCBI Gene:100313778, RefSeq RNA:NR_031582 No chr13 53384185 53384275 52810050 52810140 +PA164722973 100126348 HGNC:33666 ENSG00000211575 microRNA 760 MIR760 hsa-mir-760 Yes No Ensembl:ENSG00000211575, GeneCard:MIR760, HGNC:HGNC:33666, NCBI Gene:100126348, RefSeq DNA:NT_032977, RefSeq RNA:NR_030621 No chr1 94312388 94312467 93846832 93846911 +PA165751804 100313892 HGNC:37305 ENSG00000283899 microRNA 761 MIR761 hsa-mir-761 Yes No Ensembl:ENSG00000283899, GeneCard:MIR761, HGNC:HGNC:37305, NCBI Gene:100313892, RefSeq RNA:NR_031580 No chr1 52302016 52302074 51836344 51836402 +PA165450200 100313837 HGNC:37303 ENSG00000211591 microRNA 762 MIR762 hsa-mir-762 Yes No Ensembl:ENSG00000211591, GeneCard:MIR762, HGNC:HGNC:37303, NCBI Gene:100313837, RefSeq RNA:NR_031576 No chr16 30905224 30905306 30893903 30893985 +PA165757020 100313838 HGNC:37306 ENSG00000212100 microRNA 764 MIR764 hsa-mir-764 Yes No Ensembl:ENSG00000212100, GeneCard:MIR764, HGNC:HGNC:37306, NCBI Gene:100313838, RefSeq RNA:NR_031581 No chrX 113873918 113874002 114639435 114639519 +PA164722974 768220 HGNC:33141 ENSG00000211581 microRNA 765 MIR765 hsa-mir-765 Yes No Ensembl:ENSG00000211581, GeneCard:MIR765, HGNC:HGNC:33141, NCBI Gene:768220, RefSeq DNA:NT_004487, RefSeq RNA:NR_030527 No chr1 156905923 156906036 156936131 156936244 +PA164722975 768218 HGNC:33139 ENSG00000211578 microRNA 766 MIR766 hsa-mir-766 Yes No Ensembl:ENSG00000211578, GeneCard:MIR766, HGNC:HGNC:33139, NCBI Gene:768218, RefSeq DNA:NT_011786, RefSeq RNA:NR_030413 No chrX 118780701 118780811 119646738 119646848 +PA164722976 768215 HGNC:33136 ENSG00000211583 microRNA 767 MIR767 hsa-mir-767 Yes No Ensembl:ENSG00000211583, GeneCard:MIR767, HGNC:HGNC:33136, NCBI Gene:768215, RefSeq DNA:NT_167198, RefSeq RNA:NR_030409 No chrX 151561893 151562001 152393421 152393529 +PA164722977 768217 HGNC:33138 ENSG00000211580 microRNA 769 MIR769 hsa-mir-769 Yes No Ensembl:ENSG00000211580, GeneCard:MIR769, HGNC:HGNC:33138, NCBI Gene:768217, RefSeq DNA:NT_011109, RefSeq RNA:NR_030412 No chr19 46522190 46522307 46018932 46019049 +PA164722978 768222 HGNC:33143 ENSG00000211574 microRNA 770 MIR770 hsa-mir-770 Yes No Ensembl:ENSG00000211574, GeneCard:MIR770, HGNC:HGNC:33143, NCBI Gene:768222, RefSeq DNA:NT_026437, RefSeq RNA:NR_030528 No chr14 101318727 101318824 100852390 100852487 +PA164722979 768219 HGNC:33140 ENSG00000211590 microRNA 802 MIR802 hsa-mir-802 Yes No Ensembl:ENSG00000211590, GeneCard:MIR802, HGNC:HGNC:33140, NCBI Gene:768219, RefSeq DNA:NT_011512, RefSeq RNA:NR_030414 No chr21 37093013 37093106 35720715 35720808 +PA164722980 100126316 HGNC:33663 ENSG00000215939 microRNA 873 MIR873 hsa-mir-873 Yes No Ensembl:ENSG00000215939, GeneCard:MIR873, HGNC:HGNC:33663, NCBI Gene:100126316, RefSeq DNA:NT_008413, RefSeq RNA:NR_030618 No chr9 28888877 28888953 28888879 28888955 +PA164722981 100126343 HGNC:33643 ENSG00000216009 microRNA 874 MIR874 hsa-mir-874 Yes No Ensembl:ENSG00000216009, GeneCard:MIR874, HGNC:HGNC:33643, NCBI Gene:100126343, RefSeq DNA:NT_034772, RefSeq RNA:NR_030588 No chr5 136983261 136983338 137647572 137647649 +PA164722982 100126309 HGNC:33652 ENSG00000216069 microRNA 875 MIR875 hsa-mir-875 Yes No Ensembl:ENSG00000216069, GeneCard:MIR875, HGNC:HGNC:33652, NCBI Gene:100126309, RefSeq DNA:NT_008046, RefSeq RNA:NR_030596 No chr8 100549014 100549089 99536786 99536861 +PA164722983 100126310 HGNC:33653 ENSG00000215966 microRNA 876 MIR876 hsa-mir-876 Yes No Ensembl:ENSG00000215966, GeneCard:MIR876, HGNC:HGNC:33653, NCBI Gene:100126310, RefSeq DNA:NT_008413, RefSeq RNA:NR_030597 No chr9 28863624 28863704 28863626 28863706 +PA164722984 100126314 HGNC:33660 ENSG00000216101 microRNA 877 MIR877 hsa-mir-877 Yes No Ensembl:ENSG00000216101, GeneCard:MIR877, HGNC:HGNC:33660, NCBI Gene:100126314, OMIM:611619, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_030615 No chr6 30552109 30552194 30584332 30584417 +PA164722985 100126334 HGNC:33659 ENSG00000216135 microRNA 885 MIR885 hsa-mir-885 Yes No Ensembl:ENSG00000216135, GeneCard:MIR885, HGNC:HGNC:33659, NCBI Gene:100126334, RefSeq DNA:NT_022517, RefSeq RNA:NR_030614 No chr3 10436173 10436246 10394489 10394562 +PA164722987 100126347 HGNC:33661 ENSG00000216077 microRNA 887 MIR887 hsa-mir-887 Yes No Ensembl:ENSG00000216077, GeneCard:MIR887, HGNC:HGNC:33661, NCBI Gene:100126347, RefSeq DNA:NT_006576, RefSeq RNA:NR_030616 No chr5 15935291 15935369 15935182 15935260 +PA164722988 100126306 HGNC:33648 ENSG00000216005 microRNA 888 MIR888 hsa-mir-888 Yes No Ensembl:ENSG00000216005, GeneCard:MIR888, HGNC:HGNC:33648, NCBI Gene:100126306, RefSeq DNA:NT_011681, RefSeq RNA:NR_030592 No chrX 145076302 145076378 145994784 145994860 +PA164722989 100126345 HGNC:33651 ENSG00000216099 microRNA 889 MIR889 hsa-mir-889 Yes No Ensembl:ENSG00000216099, GeneCard:MIR889, HGNC:HGNC:33651, NCBI Gene:100126345, RefSeq DNA:NT_026437, RefSeq RNA:NR_030595 No chr14 101514238 101514316 101047901 101047979 +PA164722990 100126303 HGNC:33644 ENSG00000216075 microRNA 890 MIR890 hsa-mir-890 Yes No Ensembl:ENSG00000216075, GeneCard:MIR890, HGNC:HGNC:33644, NCBI Gene:100126303, RefSeq DNA:NT_011681, RefSeq RNA:NR_030589 No chrX 145075793 145075869 145994275 145994351 +PA164722991 100126341 HGNC:33635 ENSG00000216056 microRNA 891a MIR891A hsa-mir-891a Yes No Ensembl:ENSG00000216056, GeneCard:MIR891A, HGNC:HGNC:33635, NCBI Gene:100126341, RefSeq DNA:NT_011681, RefSeq RNA:NR_030581 No chrX 145109312 145109390 146027794 146027872 +PA164722992 100126304 HGNC:33645 ENSG00000216064 microRNA 891b MIR891B hsa-mir-891b Yes No Ensembl:ENSG00000216064, GeneCard:MIR891B, HGNC:HGNC:33645, NCBI Gene:100126304, RefSeq DNA:NT_011681, RefSeq RNA:NR_030590 No chrX 145082571 145082649 146001053 146001131 +PA164722993 100126342 HGNC:33639 ENSG00000215943 microRNA 892a MIR892A hsa-mir-892a Yes No Ensembl:ENSG00000215943, GeneCard:MIR892A, HGNC:HGNC:33639, NCBI Gene:100126342, RefSeq DNA:NT_011681, RefSeq RNA:NR_030584 No chrX 145078187 145078261 145996669 145996743 +PA164722994 100126307 HGNC:33649 ENSG00000216098 microRNA 892b MIR892B hsa-mir-892b Yes No Ensembl:ENSG00000216098, GeneCard:MIR892B, HGNC:HGNC:33649, NCBI Gene:100126307, RefSeq DNA:NT_011681, RefSeq RNA:NR_030593 No chrX 145078716 145078792 145997198 145997274 +PA164722995 407046 HGNC:31641 ENSG00000207933 microRNA 9-1 MIR9-1 hsa-mir-9-1 Yes No Ensembl:ENSG00000207933, GeneCard:MIR9-1, HGNC:HGNC:31641, NCBI Gene:407046, OMIM:611186, RefSeq DNA:NT_004487, RefSeq RNA:NR_029691 No chr1 156390133 156390221 156420341 156420429 +PA164722996 407047 HGNC:31642 ENSG00000284447 microRNA 9-2 MIR9-2 hsa-mir-9-2 Yes No Ensembl:ENSG00000284447, GeneCard:MIR9-2, HGNC:HGNC:31642, NCBI Gene:407047, OMIM:611187, RefSeq DNA:NT_006713, RefSeq RNA:NR_030741 No chr5 87962671 87962757 88666853 88666939 +PA164722998 100126320 HGNC:33670 ENSG00000216192 microRNA 920 MIR920 hsa-mir-920 Yes No Ensembl:ENSG00000216192, GeneCard:MIR920, HGNC:HGNC:33670, NCBI Gene:100126320, RefSeq DNA:NT_009714, RefSeq RNA:NR_030625 No chr12 24365355 24365429 24212421 24212495 +PA164722999 100126349 HGNC:33671 ENSG00000215952 microRNA 921 MIR921 hsa-mir-921 Yes No Ensembl:ENSG00000215952, GeneCard:MIR921, HGNC:HGNC:33671, NCBI Gene:100126349, RefSeq DNA:NT_004487, RefSeq RNA:NR_030626 No chr1 166123980 166124035 166154743 166154798 +PA164723000 100126321 HGNC:33672 ENSG00000284146 microRNA 922 MIR922 hsa-mir-922 Yes No Ensembl:ENSG00000284146, GeneCard:MIR922, HGNC:HGNC:33672, NCBI Gene:100126321, RefSeq DNA:NT_029928, RefSeq RNA:NR_030627 No chr3 197401367 197401447 197674496 197674576 +PA164723001 100126323 HGNC:33674 ENSG00000283615 microRNA 924 MIR924 hsa-mir-924 Yes No Ensembl:ENSG00000283615, GeneCard:MIR924, HGNC:HGNC:33674, NCBI Gene:100126323, RefSeq DNA:NT_010966, RefSeq RNA:NR_030628 No chr18 37202087 37202139 39622123 39622175 +PA164723002 407048 HGNC:31643 ENSG00000283705 microRNA 92a-1 MIR92A1 hsa-mir-92-1, hsa-mir-92a-1 Yes No Ensembl:ENSG00000283705, GeneCard:MIR92A1, HGNC:HGNC:31643, NCBI Gene:407048, OMIM:609422, RefSeq DNA:NT_009952, RefSeq RNA:NR_029508 No chr13 92003568 92003645 91351314 91351391 +PA164723003 407049 HGNC:31644 ENSG00000284538 microRNA 92a-2 MIR92A2 hsa-mir-92-2, hsa-mir-92a-2 Yes No Ensembl:ENSG00000284538, GeneCard:MIR92A2, HGNC:HGNC:31644, NCBI Gene:407049, RefSeq DNA:NT_011786, RefSeq RNA:NR_029509 No chrX 133303568 133303642 134169538 134169612 +PA164723004 693235 HGNC:32920 ENSG00000284586 microRNA 92b MIR92B hsa-mir-92b Yes No Ensembl:ENSG00000284586, GeneCard:MIR92B, HGNC:HGNC:32920, NCBI Gene:693235, RefSeq DNA:NT_004487, RefSeq RNA:NR_030281 No chr1 155164968 155165063 155195177 155195272 +PA164722997 407051 HGNC:31646 ENSG00000284329 microRNA 9-3 MIR9-3 hsa-mir-9-3 Yes No Ensembl:ENSG00000284329, GeneCard:MIR9-3, HGNC:HGNC:31646, NCBI Gene:407051, OMIM:611188, RefSeq DNA:NT_010274, RefSeq RNA:NR_029692 No chr15 89911248 89911337 89368017 89368106 +PA164723005 407050 HGNC:31645 ENSG00000207757 microRNA 93 MIR93 hsa-mir-93 Yes No Ensembl:ENSG00000207757, GeneCard:MIR93, HGNC:HGNC:31645, NCBI Gene:407050, OMIM:612984, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_029510 No chr7 99691391 99691470 100093768 100093847 +PA164723006 100126350 HGNC:33676 ENSG00000215973 microRNA 933 MIR933 hsa-mir-933 Yes No Ensembl:ENSG00000215973, GeneCard:MIR933, HGNC:HGNC:33676, NCBI Gene:100126350, RefSeq DNA:NT_005403, RefSeq RNA:NR_030630 No chr2 176032361 176032437 175167633 175167709 +PA164723007 100126324 HGNC:33677 ENSG00000216060 microRNA 934 MIR934 hsa-mir-934 Yes No Ensembl:ENSG00000216060, GeneCard:MIR934, HGNC:HGNC:33677, NCBI Gene:100126324, RefSeq DNA:NT_011786, RefSeq RNA:NR_030631 No chrX 135633037 135633119 136550878 136550960 +PA164723008 100126325 HGNC:33678 ENSG00000284583 microRNA 935 MIR935 hsa-mir-935 Yes No Ensembl:ENSG00000284583, GeneCard:MIR935, HGNC:HGNC:33678, NCBI Gene:100126325, RefSeq DNA:NT_011109, RefSeq RNA:NR_030632 No chr19 54485561 54485651 53982307 53982397 +PA164723009 100126326 HGNC:33679 ENSG00000283788 microRNA 936 MIR936 hsa-mir-936 Yes No Ensembl:ENSG00000283788, GeneCard:MIR936, HGNC:HGNC:33679, NCBI Gene:100126326, RefSeq DNA:NT_030059, RefSeq RNA:NR_030760 No chr10 105807847 105807944 104048089 104048186 +PA164723010 100126338 HGNC:33680 ENSG00000284224 microRNA 937 MIR937 hsa-mir-937 Yes No Ensembl:ENSG00000284224, GeneCard:MIR937, HGNC:HGNC:33680, NCBI Gene:100126338, RefSeq DNA:NT_008046, RefSeq RNA:NR_030633 No chr8 144895127 144895212 143812957 143813042 +PA164723011 100126327 HGNC:33681 ENSG00000216035 microRNA 938 MIR938 hsa-mir-938 Yes No Ensembl:ENSG00000216035, GeneCard:MIR938, HGNC:HGNC:33681, NCBI Gene:100126327, RefSeq DNA:NT_008705, RefSeq RNA:NR_030634 No chr10 29891193 29891275 29602264 29602346 +PA164723012 100126351 HGNC:33682 ENSG00000284310 microRNA 939 MIR939 hsa-mir-939 Yes No Ensembl:ENSG00000284310, GeneCard:MIR939, HGNC:HGNC:33682, NCBI Gene:100126351, RefSeq DNA:NT_037704, RefSeq RNA:NR_030635 No chr8 145619364 145619445 144394149 144394230 +PA164723013 100126328 HGNC:33683 ENSG00000284346 microRNA 940 MIR940 hsa-mir-940 Yes No Ensembl:ENSG00000284346, GeneCard:MIR940, HGNC:HGNC:33683, NCBI Gene:100126328, RefSeq DNA:NT_010393, RefSeq RNA:NR_030636 No chr16 2321748 2321841 2271747 2271840 +PA164723014 100126329 HGNC:33684 ENSG00000283206 microRNA 941-1 MIR941-1 hsa-mir-941-1 Yes No Ensembl:ENSG00000283206, GeneCard:MIR941-1, HGNC:HGNC:33684, NCBI Gene:100126329, RefSeq DNA:NT_011333, RefSeq RNA:NR_030637 No chr20 62550778 62550894 63919449 63919520 +PA164723015 100126339 HGNC:33685 ENSG00000216141 microRNA 941-2 MIR941-2 hsa-mir-941-2 Yes No Ensembl:ENSG00000216141, GeneCard:MIR941-2, HGNC:HGNC:33685, NCBI Gene:100126339, RefSeq DNA:NT_011333, RefSeq RNA:NR_030638 No chr20 62550890 62551006 63919505 63919576 +PA164723016 100126352 HGNC:33686 ENSG00000283513 microRNA 941-3 MIR941-3 hsa-mir-941-3 Yes No Ensembl:ENSG00000283513, GeneCard:MIR941-3, HGNC:HGNC:33686, NCBI Gene:100126352, RefSeq DNA:NT_011333, RefSeq RNA:NR_030639 No chr20 62551085 62551201 63919561 63919632 +PA164723017 100126330 HGNC:33687 ENSG00000216195 microRNA 941-4 MIR941-4 hsa-mir-941-4 Yes No Ensembl:ENSG00000216195, HGNC:HGNC:33687, NCBI Gene:100126330, RefSeq DNA:NT_011333, RefSeq RNA:NR_040032 No chr20 62551197 62551313 63919756 63919827 +PA164723018 100126331 HGNC:33688 ENSG00000215930 microRNA 942 MIR942 hsa-mir-942 Yes No Ensembl:ENSG00000215930, GeneCard:MIR942, HGNC:HGNC:33688, NCBI Gene:100126331, RefSeq DNA:NT_032977, RefSeq RNA:NR_030640 No chr1 117637265 117637350 117094643 117094728 +PA164723019 100126332 HGNC:33689 ENSG00000284587 microRNA 943 MIR943 hsa-mir-943 Yes No Ensembl:ENSG00000284587, GeneCard:MIR943, HGNC:HGNC:33689, NCBI Gene:100126332, RefSeq DNA:NT_006051, RefSeq RNA:NR_030641 No chr4 1988111 1988204 1986384 1986477 +PA164723020 100126340 HGNC:33690 ENSG00000216058 microRNA 944 MIR944 hsa-mir-944 Yes No Ensembl:ENSG00000216058, GeneCard:MIR944, HGNC:HGNC:33690, NCBI Gene:100126340, RefSeq DNA:NT_005612, RefSeq RNA:NR_030642 No chr3 189547711 189547798 189829922 189830009 +PA164723021 407052 HGNC:31647 ENSG00000207807 microRNA 95 MIR95 hsa-mir-95 Yes No Ensembl:ENSG00000207807, GeneCard:MIR95, HGNC:HGNC:31647, NCBI Gene:407052, OMIM:613185, RefSeq RNA:NR_029511 No chr4 8007028 8007108 8005301 8005381 +PA164723022 407053 HGNC:31648 ENSG00000199158 microRNA 96 MIR96 DFNA50, hsa-mir-96 Yes No Ensembl:ENSG00000199158, GeneCard:MIR96, HGNC:HGNC:31648, NCBI Gene:407053, OMIM:611606, OMIM:613074, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_029512 No chr7 129414532 129414609 129774692 129774769 +PA164723023 407054 HGNC:31649 ENSG00000271886 microRNA 98 MIR98 hsa-mir-98 Yes No Ensembl:ENSG00000271886, GeneCard:MIR98, HGNC:HGNC:31649, NCBI Gene:407054, OMIM:300810, RefSeq DNA:NT_011630, RefSeq RNA:NR_029513 No chrX 53583184 53583302 53556223 53556341 +PA164723024 407055 HGNC:31650 ENSG00000207638 microRNA 99a MIR99A hsa-mir-99a Yes No Ensembl:ENSG00000207638, GeneCard:MIR99A, HGNC:HGNC:31650, NCBI Gene:407055, RefSeq DNA:NT_011512, RefSeq RNA:NR_029514 No chr21 17911409 17911489 16539089 16539169 +PA164723025 407056 HGNC:31651 ENSG00000207550 microRNA 99b MIR99B hsa-mir-99b Yes No Ensembl:ENSG00000207550, GeneCard:MIR99B, HGNC:HGNC:31651, NCBI Gene:407056, RefSeq DNA:NT_011109, RefSeq RNA:NR_029843 No chr19 52195865 52195934 51692612 51692681 +PA164723027 406881 HGNC:31476 ENSG00000199165 microRNA let-7a-1 MIRLET7A1 hsa-let-7a-1 Yes No Ensembl:ENSG00000199165, GeneCard:MIRLET7A1, HGNC:HGNC:31476, NCBI Gene:406881, OMIM:605386, RefSeq DNA:NT_008470, RefSeq RNA:NR_029476 No chr9 96938239 96938318 94175957 94176036 +PA164723028 406882 HGNC:31477 ENSG00000198975 microRNA let-7a-2 MIRLET7A2 hsa-let-7a-2 Yes No Ensembl:ENSG00000198975, GeneCard:MIRLET7A2, HGNC:HGNC:31477, NCBI Gene:406882, OMIM:612142, RefSeq DNA:NT_033899, RefSeq RNA:NR_029477 No chr11 122017230 122017301 122146522 122146593 +PA164723029 406883 HGNC:31478 ENSG00000283990 microRNA let-7a-3 MIRLET7A3 hsa-let-7a-3 Yes No Ensembl:ENSG00000283990, GeneCard:MIRLET7A3, HGNC:HGNC:31478, NCBI Gene:406883, OMIM:612143, RefSeq DNA:NT_011520, RefSeq RNA:NR_029478 No chr22 46508629 46508702 46112749 46112822 +PA164723030 406884 HGNC:31479 ENSG00000284520 microRNA let-7b MIRLET7B hsa-let-7b Yes No Ensembl:ENSG00000284520, GeneCard:MIRLET7B, HGNC:HGNC:31479, NCBI Gene:406884, OMIM:611249, RefSeq DNA:NT_011520, RefSeq RNA:NR_029479 No chr22 46509566 46509648 46113686 46113768 +PA165378349 400931 HGNC:37189 ENSG00000197182 MIRLET7B host gene (non-protein coding) MIRLET7BHG Yes No Ensembl:ENSG00000197182, HGNC:HGNC:37189, NCBI Gene:400931 No chr22 46481877 46509808 46085997 46113928 +PA164723031 406885 HGNC:31480 ENSG00000199030 microRNA let-7c MIRLET7C hsa-let-7c Yes No Ensembl:ENSG00000199030, GeneCard:MIRLET7C, HGNC:HGNC:31480, NCBI Gene:406885, OMIM:612144, RefSeq DNA:NT_011512, RefSeq RNA:NR_029480 No chr21 17912148 17912231 16539828 16539911 +PA164723032 406886 HGNC:31481 ENSG00000199133 microRNA let-7d MIRLET7D hsa-let-7d Yes No Ensembl:ENSG00000199133, GeneCard:MIRLET7D, HGNC:HGNC:31481, NCBI Gene:406886, OMIM:612145, RefSeq DNA:NT_008470, RefSeq RNA:NR_029481 No chr9 96941116 96941202 94178834 94178920 +PA164723033 406887 HGNC:31482 ENSG00000198972 microRNA let-7e MIRLET7E hsa-let-7e Yes No Ensembl:ENSG00000198972, GeneCard:MIRLET7E, HGNC:HGNC:31482, NCBI Gene:406887, OMIM:611250, RefSeq DNA:NT_011109, RefSeq RNA:NR_029482 No chr19 52196039 52196117 51692786 51692864 +PA164723034 406888 HGNC:31483 ENSG00000199072 microRNA let-7f-1 MIRLET7F1 hsa-let-7f-1 Yes No Ensembl:ENSG00000199072, GeneCard:MIRLET7F1, HGNC:HGNC:31483, NCBI Gene:406888, OMIM:612146, RefSeq DNA:NT_008470, RefSeq RNA:NR_029483 No chr9 96938629 96938715 94176347 94176433 +PA164723035 406889 HGNC:31484 ENSG00000208012 microRNA let-7f-2 MIRLET7F2 hsa-let-7f-2 Yes No Ensembl:ENSG00000208012, GeneCard:MIRLET7F2, HGNC:HGNC:31484, NCBI Gene:406889, OMIM:300721, RefSeq DNA:NT_011630, RefSeq RNA:NR_029484 No chrX 53584153 53584235 53557192 53557274 +PA164723036 406890 HGNC:31485 ENSG00000199150 microRNA let-7g MIRLET7G hsa-let-7g Yes No Ensembl:ENSG00000199150, GeneCard:MIRLET7G, HGNC:HGNC:31485, NCBI Gene:406890, OMIM:612102, RefSeq DNA:NT_022517, RefSeq RNA:NR_029660 No chr3 52302294 52302377 52268278 52268361 +PA164723037 406891 HGNC:31486 ENSG00000199179 microRNA let-7i MIRLET7I hsa-let-7i Yes No Ensembl:ENSG00000199179, GeneCard:MIRLET7I, HGNC:HGNC:31486, NCBI Gene:406891, OMIM:612148, RefSeq DNA:NT_029419, RefSeq RNA:NR_029661 No chr12 62997466 62997549 62603686 62603769 +PA134951024 79003 HGNC:24967 ENSG00000167842 MIS12 kinetochore complex component MIS12 """MIS12 kinetochore complex component"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"", ""MIS12, kinetochore complex component""" KNTC2AP, MGC2488, MTW1, hMIS12 Yes No Ensembl:ENSG00000167842, GeneCard:MIS12, HGNC:HGNC:24967, HumanCyc Gene:HS15602, NCBI Gene:79003, OMIM:609178, RefSeq DNA:NT_010718, RefSeq Protein:NP_076944, RefSeq RNA:NM_024039, UniProtKB:Q9H081 No chr17 5389694 5394134 5486374 5490814 +PA25840 54069 HGNC:1286 ENSG00000159055 MIS18 kinetochore protein A MIS18A MIS18 kinetochore protein homolog A (S. pombe) B28, C21orf45, C21orf46, FASP1, hMis18alpha Yes No Ensembl:ENSG00000159055, GenAtlas:C21orf45, GeneCard:C21orf45, HGNC:HGNC:1286, HumanCyc Gene:HS08351, ModBase:Q9NYP9, NCBI Gene:54069, RefSeq DNA:NT_011512, RefSeq Protein:NP_061817, RefSeq RNA:NM_018944, UCSC Genome Browser:NM_018944, UniProtKB:Q9NYP9 No chr21 33640530 33651376 32244759 32283954 +PA134927557 55320 HGNC:20190 ENSG00000129534 MIS18 binding protein 1 MIS18BP1 kinetochore null 2 homolog (C. elegans) C14orf106, FLJ11186, KIAA1903, KNL2, M18BP1 Yes No Ensembl:ENSG00000129534, GeneCard:C14orf106, HGNC:HGNC:20190, HumanCyc Gene:HS05290, ModBase:Q6P0N0, NCBI Gene:55320, RefSeq DNA:NT_026437, RefSeq Protein:NP_060823, RefSeq RNA:NM_018353, UniProtKB:Q6P0N0 No chr14 45672393 45722714 45203190 45253402 +PA166181660 100506540 HGNC:44122 ENSG00000247595 mitochondrial sheath formation associated MISFA SPTY2D1 opposite strand Kastor, Polluks, SPTY2D1-AS1, SPTY2D1OS Yes No Ensembl:ENSG00000247595, HGNC:HGNC:44122, NCBI Gene:100506540 No 0 0 0 0 +PA134861073 126353 HGNC:27000 ENSG00000099812 mitotic spindle positioning MISP chromosome 19 open reading frame 21, mitotic interactor and substrate of Plk1 C19orf21, Caprice, DKFZp686H18209, MISP1 Yes Yes Ensembl:ENSG00000099812, GeneCard:C19orf21, HGNC:HGNC:27000, HumanCyc Gene:HS12374, ModBase:Q8IVT2, NCBI Gene:126353, RefSeq DNA:NT_011255, RefSeq Protein:NP_775752, RefSeq RNA:NM_173481, UniProtKB:Q8IVT2 No chr19 750910 764318 748413 764319 +PA166181564 113230 HGNC:26963 ENSG00000141854 MISP family member 3 MISP3 Yes No Ensembl:ENSG00000141854, HGNC:HGNC:26963, NCBI Gene:113230 No 0 0 0 0 +PA147357601 129531 HGNC:25207 ENSG00000158411 microtubule interacting and trafficking domain containing 1 MITD1 MIT, microtubule interacting and transport, domain containing 1 LOC129531 Yes No Ensembl:ENSG00000158411, GeneCard:MITD1, HGNC:HGNC:25207, HumanCyc Gene:HS14712, ModBase:Q8WV92, NCBI Gene:129531, RefSeq DNA:NT_022171, RefSeq Protein:NP_620153, RefSeq RNA:NM_138798, UniProtKB:Q8WV92 No chr2 99785726 99797524 99161427 99181073 +PA30823 4286 HGNC:7105 ENSG00000187098 melanocyte inducing transcription factor MITF homolog of mouse microphthalmia, microphthalmia-associated transcription factor MI, WS2, WS2A, bHLHe32 Yes No Comparative Toxicogenomics Database:4286, Ensembl:ENSG00000187098, GenAtlas:MITF, GeneCard:MITF, HGNC:HGNC:7105, HumanCyc Gene:HS08844, ModBase:O75030, NCBI Gene:4286, OMIM:103470, OMIM:103500, OMIM:156845, OMIM:193510, RefSeq DNA:NG_011631, RefSeq DNA:NT_022459, RefSeq Protein:NP_000239, RefSeq Protein:NP_001171896, RefSeq Protein:NP_001171897, RefSeq Protein:NP_006713, RefSeq Protein:NP_937801, RefSeq Protein:NP_937802, RefSeq Protein:NP_937820, RefSeq Protein:NP_937821, RefSeq RNA:NM_000248, RefSeq RNA:NM_001184967, RefSeq RNA:NM_001184968, RefSeq RNA:NM_006722, RefSeq RNA:NM_198158, RefSeq RNA:NM_198159, RefSeq RNA:NM_198177, RefSeq RNA:NM_198178, UCSC Genome Browser:NM_000248, UniProtKB:O75030 No chr3 69788586 70017488 69739435 69968337 +PA166351968 131076 HGNC:31136 mitochondrial matrix import factor 23 MIX23 CCDC58, FLJ33273 Yes No HGNC:HGNC:31136, NCBI Gene:131076 No 0 0 0 0 +PA134976348 83881 HGNC:13363 ENSG00000185155 Mix paired-like homeobox MIXL1 MILD1, MIXL Yes No Ensembl:ENSG00000185155, GeneCard:MIXL1, HGNC:HGNC:13363, ModBase:Q9H2W2, NCBI Gene:83881, OMIM:609852, RefSeq DNA:NT_167186, RefSeq Protein:NP_114150, RefSeq RNA:NM_031944, UniProtKB:Q9H2W2 No chr1 226411325 226414756 226223618 226227055 +PA30825 4288 HGNC:7107 ENSG00000148773 marker of proliferation Ki-67 MKI67 """Molecular Immunology Borstel antibody 1"", ""antigen identified by monoclonal antibody Ki-67"", ""protein phosphatase 1, regulatory subunit 105""" Ki-67, MIB-, MIB-1, PPP1R105 Yes No Comparative Toxicogenomics Database:4288, Ensembl:ENSG00000148773, GenAtlas:MKI67, GeneCard:MKI67, HGNC:HGNC:7107, HumanCyc Gene:HS07559, ModBase:P46013, NCBI Gene:4288, OMIM:176741, RefSeq DNA:NT_008818, RefSeq Protein:NP_001139438, RefSeq Protein:NP_002408, RefSeq RNA:NM_001145966, RefSeq RNA:NM_002417, UCSC Genome Browser:NM_002417, UniProtKB:P46013 No chr10 129894923 129924468 128096659 128126405 +PA30826 8195 HGNC:7108 ENSG00000125863 MKKS centrosomal shuttling protein MKKS McKusick-Kaufman syndrome BBS6 Yes No Comparative Toxicogenomics Database:8195, Ensembl:ENSG00000125863, GenAtlas:MKKS, GeneCard:MKKS, HGNC:HGNC:7108, HumanCyc Gene:HS04959, ModBase:Q9NPJ1, NCBI Gene:8195, OMIM:209900, OMIM:236700, OMIM:604896, RefSeq DNA:NG_009109, RefSeq DNA:NT_011387, RefSeq Protein:NP_061336, RefSeq Protein:NP_740754, RefSeq RNA:NM_018848, RefSeq RNA:NM_170784, UCSC Genome Browser:NM_018848, UniProtKB:Q9NPJ1 No chr20 10385428 10414887 10404780 10434239 +PA30828 4289 HGNC:7109 ENSG00000128585 muskelin 1 MKLN1 muskelin 1, intracellular mediator containing kelch motifs TWA2 Yes No Comparative Toxicogenomics Database:4289, Ensembl:ENSG00000128585, GenAtlas:MKLN1, GeneCard:MKLN1, HGNC:HGNC:7109, HumanCyc Gene:HS05198, ModBase:Q9UL63, NCBI Gene:4289, OMIM:605623, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001138826, RefSeq Protein:NP_037387, RefSeq RNA:NM_001145354, RefSeq RNA:NM_013255, UCSC Genome Browser:NM_013255, UniProtKB:B4DG30, UniProtKB:Q9UL63 No chr7 130794855 131181398 131110096 131496639 +PA30829 8569 HGNC:7110 ENSG00000079277 MAPK interacting serine/threonine kinase 1 MKNK1 MAP kinase interacting serine/threonine kinase 1 MNK1 Yes No Comparative Toxicogenomics Database:8569, Ensembl:ENSG00000079277, GenAtlas:MKNK1, GeneCard:MKNK1, HGNC:HGNC:7110, HumanCyc Gene:HS01318, ModBase:Q9BUB5, NCBI Gene:8569, OMIM:606724, RefSeq DNA:NT_032977, RefSeq Protein:NP_001129025, RefSeq Protein:NP_003675, RefSeq Protein:NP_945324, RefSeq RNA:NM_001135553, RefSeq RNA:NM_003684, RefSeq RNA:NM_198973, RefSeq RNA:NR_024174, RefSeq RNA:NR_024176, UCSC Genome Browser:NM_003684, UniProtKB:A8K341, UniProtKB:Q9BUB5 No chr1 47023079 47069966 46557407 46607140 +PA30830 2872 HGNC:7111 ENSG00000099875 MAPK interacting serine/threonine kinase 2 MKNK2 MAP kinase interacting serine/threonine kinase 2, Putative map kinase interacting kinase GPRK7, MNK2 Yes No Comparative Toxicogenomics Database:2872, Ensembl:ENSG00000099875, GenAtlas:MKNK2, GeneCard:MKNK2, HGNC:HGNC:7111, HumanCyc Gene:HS01924, ModBase:Q9HBH9, NCBI Gene:2872, OMIM:605069, RefSeq DNA:NT_011255, RefSeq Protein:NP_060042, RefSeq Protein:NP_951009, RefSeq RNA:NM_017572, RefSeq RNA:NM_199054, UCSC Genome Browser:NM_017572, UniProtKB:B3KS07, UniProtKB:Q9HBH9 No chr19 2037470 2051243 2037471 2051244 +PA30831 23608 HGNC:7112 ENSG00000133606 makorin ring finger protein 1 MKRN1 RNF61 Yes No Comparative Toxicogenomics Database:23608, Ensembl:ENSG00000133606, GenAtlas:MKRN1, GeneCard:MKRN1, HGNC:HGNC:7112, HumanCyc Gene:HS05770, ModBase:Q9UHC7, NCBI Gene:23608, OMIM:607754, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001138597, RefSeq Protein:NP_038474, RefSeq RNA:NM_001145125, RefSeq RNA:NM_013446, UCSC Genome Browser:NM_013446, UniProtKB:A4D1T7, UniProtKB:Q256Y7, UniProtKB:Q9UHC7 No chr7 140152840 140179369 140453040 140479569 +PA30832 23609 HGNC:7113 ENSG00000075975 makorin ring finger protein 2 MKRN2 HSPC070, RNF62 Yes No Comparative Toxicogenomics Database:23609, Ensembl:ENSG00000075975, GenAtlas:MKRN2, GeneCard:MKRN2, HGNC:HGNC:7113, ModBase:Q9H000, NCBI Gene:23609, OMIM:608426, RefSeq DNA:NT_022517, RefSeq Protein:NP_054879, RefSeq RNA:NM_014160, UCSC Genome Browser:NM_014160, UniProtKB:Q9H000 No chr3 12598513 12625212 12557014 12583713 +PA166049069 100129480 HGNC:40375 ENSG00000225526 MKRN2 opposite strand MKRN2OS chromosome 3 open reading frame 83 C3orf83, MKRN2-AS1 Yes No Ensembl:ENSG00000225526, HGNC:HGNC:40375, NCBI Gene:100129480 No chr3 12581280 12586963 12539713 12561227 +PA30833 7681 HGNC:7114 ENSG00000179455 makorin ring finger protein 3 MKRN3 zinc finger protein 127 D15S9, MGC88288, RNF63, ZFP127, ZNF127 Yes No Ensembl:ENSG00000179455, GenAtlas:MKRN3, GeneCard:MKRN3, HGNC:HGNC:7114, HumanCyc Gene:HS11386, ModBase:Q13064, NCBI Gene:7681, OMIM:603856, RefSeq DNA:NG_012875, RefSeq DNA:NT_026446, RefSeq Protein:NP_005655, RefSeq RNA:NM_005664, UCSC Genome Browser:NM_005664, UniProtKB:Q13064 No chr15 23810454 23820764 23565307 23568020 +PA30834 7682 HGNC:7115 ENSG00000238222 makorin ring finger protein 4, pseudogene MKRN4P RNF64, ZNF-Xp Yes No Ensembl:ENSG00000238222, GenAtlas:MKRN4, GeneCard:MKRN4P, HGNC:HGNC:7115, ModBase:Q13434, NCBI Gene:7682, RefSeq DNA:NG_004713, RefSeq DNA:NT_079573, UCSC Genome Browser:NM_030757, UniProtKB:Q13434 No chrX 40693507 40697060 40834254 40837807 +PA30836 7683 HGNC:7117 ENSG00000224430 makorin ring finger protein 5, pseudogene MKRN5P ZNF-Xq Yes No Ensembl:ENSG00000224430, GenAtlas:MKRNP1, GeneCard:MKRN5P, HGNC:HGNC:7117, NCBI Gene:7683, RefSeq DNA:NG_000873, RefSeq DNA:NT_011669 No chrX 73379442 73382506 74159607 74162671 +PA30837 23610 HGNC:7118 ENSG00000227154 makorin ring finger protein 6, pseudogene MKRN6P Yes No Ensembl:ENSG00000227154, GenAtlas:MKRNP2, GeneCard:MKRN6P, HGNC:HGNC:7118, NCBI Gene:23610, RefSeq DNA:NG_002786, RefSeq DNA:NG_011708, RefSeq DNA:NT_007592 No chr6 35413987 35417642 35446210 35449865 +PA30838 7686 HGNC:7119 ENSG00000225849 makorin ring finger protein 7, pseudogene MKRN7P Yes No Ensembl:ENSG00000225849, GenAtlas:MKRNP3, GeneCard:MKRN7P, HGNC:HGNC:7119, NCBI Gene:7686, RefSeq DNA:NG_001029, RefSeq DNA:NT_011362, RefSeq RNA:NR_026640 No chr20 45092299 45093931 46463660 46465292 +PA30839 391033 HGNC:7120 ENSG00000237090 makorin ring finger protein 8, pseudogene MKRN8P LOC391033 Yes No Ensembl:ENSG00000237090, GenAtlas:MKRNP4, GeneCard:MKRN8P, HGNC:HGNC:7120, NCBI Gene:391033, RefSeq DNA:NG_009613, RefSeq DNA:NT_032977 No chr1 43355302 43358111 42889631 42892440 +PA30840 54903 HGNC:7121 ENSG00000011143 MKS transition zone complex subunit 1 MKS1 """Meckel syndrome, type 1"", ""POC12 centriolar protein homolog (Chlamydomonas)""" BBS13, FLJ20345, MKS, POC12 Yes No Comparative Toxicogenomics Database:54903, Ensembl:ENSG00000011143, GenAtlas:MKS1, GeneCard:MKS1, HGNC:HGNC:7121, HumanCyc Gene:HS12039, ModBase:Q9NXB0, NCBI Gene:54903, OMIM:209900, OMIM:249000, OMIM:609883, RefSeq DNA:NG_013032, RefSeq DNA:NT_010783, RefSeq Protein:NP_001159399, RefSeq Protein:NP_060247, RefSeq RNA:NM_001165927, RefSeq RNA:NM_017777, UniProtKB:Q9NXB0 No chr17 56282797 56296966 58205436 58219605 +PA134964449 283078 HGNC:23729 ENSG00000150051 mohawk homeobox MKX C10orf48, IRXL1, MGC39616 Yes No Ensembl:ENSG00000150051, GeneCard:MKX, HGNC:HGNC:23729, HumanCyc Gene:HS14313, ModBase:Q8IYA7, NCBI Gene:283078, OMIM:601332, RefSeq DNA:NT_008705, RefSeq Protein:NP_001229631, RefSeq Protein:NP_775847, RefSeq RNA:NM_001242702, RefSeq RNA:NM_173576, UniProtKB:Q8IYA7 No chr10 27961803 28034778 27672874 27745849 +PA30842 2315 HGNC:7124 ENSG00000120215 melan-A MLANA MART-1, MART1 Yes No Comparative Toxicogenomics Database:2315, Ensembl:ENSG00000120215, GenAtlas:MLANA, GeneCard:MLANA, HGNC:HGNC:7124, HumanCyc Gene:HS04378, NCBI Gene:2315, OMIM:605513, RefSeq DNA:NT_008413, RefSeq Protein:NP_005502, RefSeq RNA:NM_005511, UCSC Genome Browser:NM_005511, UniProtKB:Q16655, UniProtKB:Q6ICU4 No chr9 5890895 5909822 5890909 5909822 +PA38199 23209 HGNC:17082 ENSG00000100427 modulator of VRAC current 1 MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 KIAA0027, LVM, MLC, VL Yes No Comparative Toxicogenomics Database:23209, Ensembl:ENSG00000100427, GenAtlas:MLC1, GeneCard:MLC1, HGNC:HGNC:17082, HumanCyc Gene:HS02083, ModBase:Q15049, NCBI Gene:23209, OMIM:604004, OMIM:605908, RefSeq DNA:NG_009162, RefSeq DNA:NT_011526, RefSeq Protein:NP_055981, RefSeq Protein:NP_631941, RefSeq RNA:NM_015166, RefSeq RNA:NM_139202, UCSC Genome Browser:NM_015166, UniProtKB:Q15049 No chr22 50497820 50524358 50059391 50085929 +PA166351969 133834869 HGNC:55481 mitochondrial lactate dehydrogenase regulator MLDHR PTEN upstream open reading frame, micropeptide 31 amino acids MP31, PTENURF Yes No HGNC:HGNC:55481, NCBI Gene:133834869 No 0 0 0 0 +PA164723038 9761 HGNC:28973 ENSG00000110917 malectin MLEC oligosaccharyltransferase complex subunit (non-catalytic) KIAA0152 Yes No Ensembl:ENSG00000110917, GeneCard:MLEC, HGNC:HGNC:28973, HumanCyc Gene:HS03354, ModBase:Q14165, NCBI Gene:9761, RefSeq DNA:NT_009775, RefSeq Protein:NP_055545, RefSeq RNA:NM_014730, UniProtKB:Q14165 No chr12 121124949 121139667 120687124 120701864 +PA30843 4291 HGNC:7125 ENSG00000178053 myeloid leukemia factor 1 MLF1 myeloid leukemia factor 1 variant 1, myeloid leukemia factor 1 variant 2, myeloid leukemia factor 1 variant 3 Yes No Comparative Toxicogenomics Database:4291, Ensembl:ENSG00000178053, GenAtlas:MLF1, GeneCard:MLF1, HGNC:HGNC:7125, HumanCyc Gene:HS11243, ModBase:P58340, NCBI Gene:4291, OMIM:601402, OMIM:601626, RefSeq DNA:NT_005612, RefSeq Protein:NP_001123628, RefSeq Protein:NP_001123629, RefSeq Protein:NP_001182361, RefSeq Protein:NP_001182362, RefSeq Protein:NP_001182363, RefSeq Protein:NP_071888, RefSeq RNA:NM_001130156, RefSeq RNA:NM_001130157, RefSeq RNA:NM_001195432, RefSeq RNA:NM_001195433, RefSeq RNA:NM_001195434, RefSeq RNA:NM_022443, UCSC Genome Browser:NM_022443, UniProtKB:P58340, UniProtKB:Q2TLE3, UniProtKB:Q2TLE4, UniProtKB:Q5HYH4 No chr3 158288953 158324249 158571162 158606460 +PA30844 8079 HGNC:7126 ENSG00000089693 myeloid leukemia factor 2 MLF2 NTN4 Yes No Comparative Toxicogenomics Database:8079, Ensembl:ENSG00000089693, GenAtlas:MLF2, GeneCard:MLF2, HGNC:HGNC:7126, HumanCyc Gene:HS01663, NCBI Gene:8079, OMIM:601401, RefSeq DNA:NT_009759, RefSeq Protein:NP_005430, RefSeq RNA:NM_001382226, RefSeq RNA:NM_005439, UCSC Genome Browser:NM_005439, UniProtKB:A8K1F4, UniProtKB:Q15773, UniProtKB:Q5U0N1 No chr12 6857158 6862721 6747992 6753470 +PA240 4292 HGNC:7127 ENSG00000076242 mutL homolog 1 MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) COCA2, FCC2, HNPCC, HNPCC2, MLH-1 Yes Yes Comparative Toxicogenomics Database:4292, Ensembl:ENSG00000076242, GenAtlas:MLH1, GeneCard:MLH1, HGNC:HGNC:7127, HumanCyc Gene:HS01203, ModBase:P40692, NCBI Gene:4292, OMIM:114030, OMIM:120436, OMIM:158320, OMIM:276300, OMIM:609310, RefSeq DNA:NG_007109, RefSeq DNA:NT_022517, RefSeq Protein:NP_000240, RefSeq Protein:NP_001161089, RefSeq Protein:NP_001161090, RefSeq Protein:NP_001161091, RefSeq RNA:NM_000249, RefSeq RNA:NM_001167617, RefSeq RNA:NM_001167618, RefSeq RNA:NM_001167619, UCSC Genome Browser:NM_000249, UniProtKB:B4DI13, UniProtKB:B4DQ11, UniProtKB:P40692, UniProtKB:Q5GJ64 No chr3 37034841 37092337 36993350 37050846 +PA30845 27030 HGNC:7128 ENSG00000119684 mutL homolog 3 MLH3 DNA mismatch repair protein Mlh3, mutL homolog 3 (E. coli) Yes No Comparative Toxicogenomics Database:27030, Ensembl:ENSG00000119684, GenAtlas:MLH3, GeneCard:MLH3, HGNC:HGNC:7128, HumanCyc Gene:HS04321, ModBase:Q9UHC1, NCBI Gene:27030, OMIM:114500, OMIM:604395, OMIM:608089, RefSeq DNA:NG_008649, RefSeq DNA:NT_026437, RefSeq Protein:NP_001035197, RefSeq Protein:NP_055196, RefSeq RNA:NM_001040108, RefSeq RNA:NM_014381, UCSC Genome Browser:NM_014381, UniProtKB:Q2M1Z1, UniProtKB:Q9UHC1 No chr14 75480467 75518235 75013764 75051532 +PA134918634 90523 HGNC:21355 ENSG00000146147 muscular LMNA interacting protein MLIP cardiac ISL1-interacting protein, muscle-enriched A-type lamin interacting protein, muscular LMNA-interacting protein C6orf142, CIP, MGC18257 Yes No Comparative Toxicogenomics Database:90523, Ensembl:ENSG00000146147, GeneCard:C6orf142, HGNC:HGNC:21355, HumanCyc Gene:HS14133, NCBI Gene:90523, RefSeq DNA:NT_007592, RefSeq Protein:NP_612636, RefSeq RNA:NM_138569, UniProtKB:Q5VWP3 No chr6 53883714 54131078 54018916 54266325 +PA142671349 197259 HGNC:26617 ENSG00000168404 mixed lineage kinase domain like pseudokinase MLKL mixed lineage kinase domain-like FLJ34389 Yes No Comparative Toxicogenomics Database:197259, Ensembl:ENSG00000168404, GeneCard:MLKL, HGNC:HGNC:26617, HumanCyc Gene:HS09750, ModBase:Q8NB16, NCBI Gene:197259, RefSeq DNA:NT_010498, RefSeq Protein:NP_001135969, RefSeq Protein:NP_689862, RefSeq RNA:NM_001142497, RefSeq RNA:NM_152649, UniProtKB:Q8NB16 No chr16 74705753 74734789 74671855 74701187 +PA30848 4298 HGNC:7134 ENSG00000130382 MLLT1 super elongation complex subunit MLLT1 """MLLT1, super elongation complex subunit"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1""" ENL, LTG19, YEATS1 Yes No Ensembl:ENSG00000130382, GenAtlas:MLLT1, GeneCard:MLLT1, HGNC:HGNC:7134, HumanCyc Gene:HS05378, ModBase:Q03111, NCBI Gene:4298, OMIM:159556, RefSeq DNA:NT_011255, RefSeq Protein:NP_005925, RefSeq RNA:NM_005934, UCSC Genome Browser:NM_005934, UniProtKB:Q03111 No chr19 6210392 6279959 6210381 6279948 +PA30849 8028 HGNC:16063 ENSG00000078403 MLLT10 histone lysine methyltransferase DOT1L cofactor MLLT10 """MLLT10, histone lysine methyltransferase DOT1L cofactor"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10""" AF10 Yes No Comparative Toxicogenomics Database:8028, Ensembl:ENSG00000078403, GenAtlas:MLLT10, GeneCard:MLLT10, HGNC:HGNC:16063, HumanCyc Gene:HS01288, ModBase:P55197, NCBI Gene:8028, OMIM:601626, OMIM:602409, RefSeq DNA:NT_008705, RefSeq Protein:NP_001009569, RefSeq Protein:NP_001182555, RefSeq Protein:NP_001182556, RefSeq Protein:NP_001182557, RefSeq Protein:NP_001182559, RefSeq Protein:NP_004632, RefSeq RNA:NM_001009569, RefSeq RNA:NM_001195626, RefSeq RNA:NM_001195627, RefSeq RNA:NM_001195628, RefSeq RNA:NM_001195630, RefSeq RNA:NM_004641, UCSC Genome Browser:NM_004641, UniProtKB:P55197 No chr10 21813540 22032559 21533349 21743630 +PA30850 140678 HGNC:15794 ENSG00000238151 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 pseudogene 1 MLLT10P1 bA348I14.3 Yes No Ensembl:ENSG00000238151, GenAtlas:MLLT10L, GeneCard:MLLT10P1, HGNC:HGNC:15794, NCBI Gene:140678 No chr20 29637584 29638138 30402908 30403462 +PA142671347 10962 HGNC:16997 ENSG00000213190 MLLT11 transcription factor 7 cofactor MLLT11 """ALL1 fused gene from chromosome 1q"", ""MLLT11, transcription factor 7 cofactor"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11""" AF1Q Yes No Comparative Toxicogenomics Database:10962, Ensembl:ENSG00000213190, GeneCard:MLLT11, HGNC:HGNC:16997, HumanCyc Gene:HS07057, ModBase:Q13015, NCBI Gene:10962, OMIM:604684, RefSeq DNA:NT_004487, RefSeq Protein:NP_006809, RefSeq RNA:NM_006818, UniProtKB:Q13015, UniProtKB:Q6FGF7 No chr1 151032151 151040973 151059675 151068497 +PA30852 4300 HGNC:7136 ENSG00000171843 MLLT3 super elongation complex subunit MLLT3 """MLLT3, super elongation complex subunit"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3""" AF-9, AF9, YEATS3 Yes Yes Comparative Toxicogenomics Database:4300, Ensembl:ENSG00000171843, GenAtlas:MLLT3, GeneCard:MLLT3, HGNC:HGNC:7136, HumanCyc Gene:HS10396, ModBase:P42568, NCBI Gene:4300, OMIM:159558, RefSeq DNA:NT_008413, RefSeq Protein:NP_004520, RefSeq RNA:NM_004529, UCSC Genome Browser:NM_004529, UniProtKB:P42568, UniProtKB:Q6MZE2, UniProtKB:Q8IVB0 No chr9 20341663 20622514 20341665 20622543 +PA30854 4302 HGNC:7138 ENSG00000275023 MLLT6, PHD finger containing MLLT6 """Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6"", ""trithorax homolog""" AF17, FLJ23480 Yes No Comparative Toxicogenomics Database:4302, Ensembl:ENSG00000275023, GenAtlas:MLLT6, GeneCard:MLLT6, HGNC:HGNC:7138, HumanCyc Gene:HS03082, ModBase:P55198, NCBI Gene:4302, OMIM:600328, RefSeq DNA:NT_010783, RefSeq Protein:NP_005928, RefSeq RNA:NM_005937, UCSC Genome Browser:NM_005937, UniProtKB:P55198 No chr17 36861873 36886056 38705620 38729803 +PA30856 4295 HGNC:7141 ENSG00000096395 motilin MLN prepromotilin Yes Yes Ensembl:ENSG00000096395, GenAtlas:MLN, GeneCard:MLN, HGNC:HGNC:7141, HumanCyc Gene:HS01860, NCBI Gene:4295, OMIM:158270, RefSeq DNA:NT_007592, RefSeq Protein:NP_001035198, RefSeq Protein:NP_001171627, RefSeq Protein:NP_002409, RefSeq RNA:NM_001040109, RefSeq RNA:NM_001184698, RefSeq RNA:NM_002418, UCSC Genome Browser:NM_002418, UniProtKB:P12872 No chr6 33762449 33771793 33794672 33804016 +PA28884 2862 HGNC:4495 ENSG00000102539 motilin receptor MLNR GPR38 Yes No Ensembl:ENSG00000102539, GenAtlas:MLNR, GeneCard:MLNR, HGNC:HGNC:4495, HumanCyc Gene:HS02394, IUPHAR Receptor:297, ModBase:O43193, NCBI Gene:2862, OMIM:602885, RefSeq DNA:NT_024524, RefSeq Protein:NP_001498, RefSeq RNA:NM_001507, UCSC Genome Browser:NM_001507, UniProtKB:O43193 No chr13 49794474 49796513 49220338 49222377 +PA134899891 79083 HGNC:29643 ENSG00000115648 melanophilin MLPH synaptotagmin-like protein homologue lacking C2 domains-a SLAC2-A, Slac-2a, exophilin-3, l(1)-3Rk, l1Rk3, ln Yes No Comparative Toxicogenomics Database:79083, Ensembl:ENSG00000115648, GeneCard:MLPH, HGNC:HGNC:29643, HumanCyc Gene:HS12850, ModBase:Q9BV36, NCBI Gene:79083, OMIM:606526, OMIM:609227, RefSeq DNA:NG_007286, RefSeq DNA:NT_005120, RefSeq Protein:NP_001035932, RefSeq Protein:NP_077006, RefSeq RNA:NM_001042467, RefSeq RNA:NM_024101, UniProtKB:Q9BV36 No chr2 238395053 238463961 237486410 237555318 +PA165450213 64223 HGNC:24825 ENSG00000167965 MTOR associated protein, LST8 homolog MLST8 """G protein beta subunit like"", ""MTOR associated protein, LST8 homolog (S. cerevisiae)""" GBL, GbetaL, Lst8, Pop3 Yes No Ensembl:ENSG00000167965, GeneCard:MLST8, HGNC:HGNC:24825, HumanCyc Gene:HS15617, NCBI Gene:64223, OMIM:612190, RefSeq DNA:NT_010393, RefSeq Protein:NP_001186102, RefSeq Protein:NP_001186103, RefSeq Protein:NP_001186104, RefSeq Protein:NP_071767, RefSeq RNA:NM_001199173, RefSeq RNA:NM_001199174, RefSeq RNA:NM_001199175, RefSeq RNA:NM_022372, UniProtKB:Q9BVC4 No chr16 2255178 2259418 2205177 2209417 +PA36397 6945 HGNC:11645 ENSG00000108788 MAX dimerization protein MLX MLX MLX, MAX dimerization protein MAD7, MXD7, TCFL4, bHLHd13 Yes No Comparative Toxicogenomics Database:6945, Ensembl:ENSG00000108788, GenAtlas:MLX, GeneCard:MLX, HGNC:HGNC:11645, HumanCyc Gene:HS03156, ModBase:Q9H2V2, NCBI Gene:6945, OMIM:602976, RefSeq DNA:NT_010783, RefSeq Protein:NP_733752, RefSeq Protein:NP_937847, RefSeq Protein:NP_937848, RefSeq RNA:NM_170607, RefSeq RNA:NM_198204, RefSeq RNA:NM_198205, UCSC Genome Browser:NM_013383, UniProtKB:Q9UH92 No chr17 40719078 40725221 42567060 42573203 +PA128394590 22877 HGNC:17055 ENSG00000175727 MLX interacting protein MLXIP KIAA0867, MIR, MONDOA, bHLHe36 Yes No Comparative Toxicogenomics Database:22877, Ensembl:ENSG00000175727, GeneCard:MLXIP, HGNC:HGNC:17055, HumanCyc Gene:HS16497, ModBase:Q9HAP2, NCBI Gene:22877, OMIM:608090, RefSeq DNA:NT_009755, RefSeq DNA:NT_009775, RefSeq Protein:NP_055753, RefSeq RNA:NM_014938, UCSC Genome Browser:NM_014938, UniProtKB:Q9HAP2 No chr12 +PA37353 51085 HGNC:12744 ENSG00000009950 MLX interacting protein like MLXIPL MLX interacting protein-like, carbohydrate response element binding protein CHREBP, MIO, MONDOB, WBSCR14, WS-bHLH, bHLHd14 Yes No Comparative Toxicogenomics Database:51085, Ensembl:ENSG00000009950, GenAtlas:MLXIPL, GeneCard:MLXIPL, HGNC:HGNC:12744, HumanCyc Gene:HS00269, ModBase:Q9NP71, NCBI Gene:51085, OMIM:605678, RefSeq DNA:NG_009307, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_116569, RefSeq Protein:NP_116570, RefSeq Protein:NP_116571, RefSeq Protein:NP_116572, RefSeq RNA:NM_032951, RefSeq RNA:NM_032952, RefSeq RNA:NM_032953, RefSeq RNA:NM_032954, UCSC Genome Browser:NM_032951, UniProtKB:Q9NP71 No chr7 73007524 73038903 73593194 73624543 +PA30861 23417 HGNC:7150 ENSG00000103150 malonyl-CoA decarboxylase MLYCD MCD, hMCD Yes No Comparative Toxicogenomics Database:23417, Ensembl:ENSG00000103150, GenAtlas:MLYCD, GeneCard:MLYCD, HGNC:HGNC:7150, HumanCyc Gene:HS02460, ModBase:O95822, NCBI Gene:23417, OMIM:248360, OMIM:606761, RefSeq DNA:NG_009079, RefSeq DNA:NT_010498, RefSeq Protein:NP_036345, RefSeq RNA:NM_012213, UCSC Genome Browser:NM_012213, UniProtKB:O95822 No chr16 83932720 83962428 83899125 83916182 +PA134912808 166785 HGNC:18871 ENSG00000151611 metabolism of cobalamin associated A MMAA methylmalonic aciduria (cobalamin deficiency) cblA type cblA Yes No Comparative Toxicogenomics Database:166785, Ensembl:ENSG00000151611, GeneCard:MMAA, HGNC:HGNC:18871, HumanCyc Gene:HS14378, ModBase:Q8IVH4, NCBI Gene:166785, OMIM:251100, OMIM:607481, RefSeq DNA:NG_007536, RefSeq DNA:NT_016354, RefSeq Protein:NP_758454, RefSeq RNA:NM_172250, UniProtKB:Q8IVH4 No chr4 146540540 146581187 145619388 145660035 +PA134864025 326625 HGNC:19331 ENSG00000139428 metabolism of cobalamin associated B MMAB ATP:cob(I)alamin adenosyltransferase, cilia and flagella associated protein 23, methylmalonic aciduria (cobalamin deficiency) cblB type CFAP23, cblB Yes No Comparative Toxicogenomics Database:326625, Ensembl:ENSG00000139428, GeneCard:MMAB, HGNC:HGNC:19331, HumanCyc Gene:HS11957, ModBase:Q96EY8, NCBI Gene:326625, OMIM:251110, OMIM:607568, RefSeq DNA:NG_007096, RefSeq DNA:NT_009775, RefSeq Protein:NP_443077, RefSeq RNA:NM_052845, RefSeq RNA:NR_038118, UniProtKB:Q96EY8 No chr12 109991520 110011358 109553715 109573553 +PA142671348 25974 HGNC:24525 ENSG00000132763 metabolism of cobalamin associated C MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria DKFZP564I122, cblC Yes No Comparative Toxicogenomics Database:25974, Ensembl:ENSG00000132763, GeneCard:MMACHC, HGNC:HGNC:24525, NCBI Gene:25974, OMIM:277400, OMIM:609831, RefSeq DNA:NG_013378, RefSeq DNA:NT_032977, RefSeq Protein:NP_056321, RefSeq RNA:NM_015506, UniProtKB:Q9Y4U1 No chr1 45965856 45976739 45500184 45511266 +PA164723053 27249 HGNC:25221 ENSG00000168288 metabolism of cobalamin associated D MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria C2orf25, CL25022, cblD Yes No Ensembl:ENSG00000168288, GeneCard:MMADHC, HGNC:HGNC:25221, HumanCyc Gene:HS15658, NCBI Gene:27249, OMIM:277410, OMIM:611935, RefSeq DNA:NG_009189, RefSeq DNA:NT_005403, RefSeq Protein:NP_056517, RefSeq RNA:NM_015702, UniProtKB:Q9H3L0 No chr2 150426147 150444330 149569633 149587816 +PA30863 23531 HGNC:7153 ENSG00000108960 monocyte to macrophage differentiation associated MMD monocyte to macrophage differentiation-associated MMA, PAQR11 Yes No Comparative Toxicogenomics Database:23531, Ensembl:ENSG00000108960, GenAtlas:MMD, GeneCard:MMD, HGNC:HGNC:7153, HumanCyc Gene:HS03182, ModBase:Q15546, NCBI Gene:23531, OMIM:604467, RefSeq DNA:NT_010783, RefSeq Protein:NP_036461, RefSeq RNA:NM_012329, UCSC Genome Browser:NM_012329, UniProtKB:Q15546 No chr17 53469974 53499341 55392613 55421993 +PA134910250 221938 HGNC:30133 ENSG00000136297 monocyte to macrophage differentiation associated 2 MMD2 monocyte to macrophage differentiation-associated 2 PAQR10 Yes No Ensembl:ENSG00000136297, GeneCard:MMD2, HGNC:HGNC:30133, ModBase:Q8IY49, NCBI Gene:221938, OMIM:613318, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001094070, RefSeq Protein:NP_940685, RefSeq RNA:NM_001100600, RefSeq RNA:NM_198403, UniProtKB:Q8IY49 No chr7 4931876 4998844 4892245 4959213 +PA30864 4311 HGNC:7154 ENSG00000196549 membrane metalloendopeptidase MME enkephalinase, membrane metallo-endopeptidase, neprilysin, neutral endopeptidase CALLA, CD10, NEP Yes Yes Comparative Toxicogenomics Database:4311, Ensembl:ENSG00000196549, GenAtlas:MME, GeneCard:MME, HGNC:HGNC:7154, HumanCyc Gene:HS03802, NCBI Gene:4311, OMIM:120520, RefSeq DNA:NT_005612, RefSeq Protein:NP_000893, RefSeq Protein:NP_009218, RefSeq Protein:NP_009219, RefSeq Protein:NP_009220, RefSeq RNA:NM_000902, RefSeq RNA:NM_007287, RefSeq RNA:NM_007288, RefSeq RNA:NM_007289, UCSC Genome Browser:NM_000902, UniProtKB:P08473 No chr3 154797436 154901518 155024124 155183729 +PA30865 79258 HGNC:14668 ENSG00000142606 membrane metalloendopeptidase like 1 MMEL1 membrane metallo-endopeptidase-like 1, neprilysin 2, neprilysin-II MMEL2, NEPII, NL1, NL2, SEP Yes No Ensembl:ENSG00000142606, GenAtlas:MMEL1, GeneCard:MMEL1, HGNC:HGNC:14668, HumanCyc Gene:HS06941, ModBase:Q495T6, NCBI Gene:79258, RefSeq DNA:NT_004350, RefSeq Protein:NP_258428, RefSeq RNA:NM_033467, UniProtKB:B3KS82, UniProtKB:Q495T6 No chr1 2522078 2564499 2590639 2633042 +PA164723074 93380 HGNC:28100 ENSG00000169446 membrane magnesium transporter 1 MMGT1 ER membrane protein complex subunit 5 EMC5, TMEM32 Yes No Ensembl:ENSG00000169446, GeneCard:MMGT1, HGNC:HGNC:28100, HumanCyc Gene:HS15776, NCBI Gene:93380, RefSeq DNA:NT_011786, RefSeq Protein:NP_775741, RefSeq RNA:NM_173470, UniProtKB:Q8N4V1 No chrX 135044230 135056224 135962072 135973975 +PA30867 4312 HGNC:7155 ENSG00000196611 matrix metallopeptidase 1 MMP1 interstitial collagenase, matrix metallopeptidase 1 (interstitial collagenase) CLG Yes Yes Comparative Toxicogenomics Database:4312, Ensembl:ENSG00000196611, GenAtlas:MMP1, GeneCard:MMP1, HGNC:HGNC:7155, HumanCyc Gene:HS07652, ModBase:P03956, NCBI Gene:4312, OMIM:120353, OMIM:226600, OMIM:606963, RefSeq DNA:NG_011740, RefSeq DNA:NT_033899, RefSeq Protein:NP_001139410, RefSeq Protein:NP_002412, RefSeq RNA:NM_001145938, RefSeq RNA:NM_002421, UCSC Genome Browser:NM_002421, UniProtKB:B4DN15, UniProtKB:P03956, UniProtKB:Q53G95 No chr11 102660641 102668966 102789910 102798235 +PA30868 4319 HGNC:7156 ENSG00000166670 matrix metallopeptidase 10 MMP10 matrix metallopeptidase 10 (stromelysin 2) STMY2 Yes Yes Comparative Toxicogenomics Database:4319, Ensembl:ENSG00000166670, GenAtlas:MMP10, GeneCard:MMP10, HGNC:HGNC:7156, HumanCyc Gene:HS09434, ModBase:P09238, NCBI Gene:4319, OMIM:185260, RefSeq DNA:NT_033899, RefSeq Protein:NP_002416, RefSeq RNA:NM_002425, UCSC Genome Browser:NM_002425, UniProtKB:P09238 No chr11 102641233 102651359 102770502 102780628 +PA30869 4320 HGNC:7157 ENSG00000099953 matrix metallopeptidase 11 MMP11 matrix metallopeptidase 11 (stromelysin 3) STMY3 Yes No Comparative Toxicogenomics Database:4320, Ensembl:ENSG00000099953, GenAtlas:MMP11, GeneCard:MMP11, HGNC:HGNC:7157, HumanCyc Gene:HS01935, ModBase:P24347, NCBI Gene:4320, OMIM:185261, RefSeq DNA:NT_011520, RefSeq Protein:NP_005931, RefSeq RNA:NM_005940, UCSC Genome Browser:NM_005940, UniProtKB:B3KQS8, UniProtKB:P24347 No chr22 24115036 24126503 23772819 23784316 +PA30870 4321 HGNC:7158 ENSG00000262406 matrix metallopeptidase 12 MMP12 macrophage elastase, matrix metallopeptidase 12 (macrophage elastase) HME Yes No Comparative Toxicogenomics Database:4321, Ensembl:ENSG00000262406, GenAtlas:MMP12, GeneCard:MMP12, HGNC:HGNC:7158, HumanCyc Gene:HS03303, ModBase:P39900, NCBI Gene:4321, OMIM:601046, RefSeq DNA:NT_033899, RefSeq Protein:NP_002417, RefSeq RNA:NM_002426, UCSC Genome Browser:NM_002426, UniProtKB:P39900 No chr11 102733464 102745764 102862729 102875034 +PA30871 4322 HGNC:7159 ENSG00000137745 matrix metallopeptidase 13 MMP13 collagenase 3, matrix metallopeptidase 13 (collagenase 3) CLG3 Yes Yes Comparative Toxicogenomics Database:4322, Ensembl:ENSG00000137745, GenAtlas:MMP13, GeneCard:MMP13, HGNC:HGNC:7159, HumanCyc Gene:HS06385, ModBase:P45452, NCBI Gene:4322, OMIM:600108, OMIM:602111, RefSeq DNA:NG_021404, RefSeq DNA:NT_033899, RefSeq Protein:NP_002418, RefSeq RNA:NM_002427, UCSC Genome Browser:NM_002427, UniProtKB:P45452 No chr11 102813721 102826463 102942992 102955734 +PA30872 4323 HGNC:7160 ENSG00000157227 matrix metallopeptidase 14 MMP14 matrix metallopeptidase 14 (membrane-inserted), membrane type 1 metalloprotease, membrane type 1-matrix metalloproteinase MT1-MMP Yes No Comparative Toxicogenomics Database:4323, Ensembl:ENSG00000157227, GenAtlas:MMP14, GeneCard:MMP14, HGNC:HGNC:7160, HumanCyc Gene:HS08195, ModBase:P50281, NCBI Gene:4323, OMIM:600754, RefSeq DNA:NT_026437, RefSeq Protein:NP_004986, RefSeq RNA:NM_004995, UCSC Genome Browser:NM_004995, UniProtKB:P50281 No chr14 23305742 23316809 22836533 22847600 +PA30873 4324 HGNC:7161 ENSG00000102996 matrix metallopeptidase 15 MMP15 matrix metallopeptidase 15 (membrane-inserted) MT2-MMP, MTMMP2, SMCP-2 Yes No Comparative Toxicogenomics Database:4324, Ensembl:ENSG00000102996, GenAtlas:MMP15, GeneCard:MMP15, HGNC:HGNC:7161, HumanCyc Gene:HS02439, ModBase:P51511, NCBI Gene:4324, OMIM:602261, RefSeq DNA:NT_010498, RefSeq Protein:NP_002419, RefSeq RNA:NM_002428, UCSC Genome Browser:NM_002428, UniProtKB:P51511 No chr16 58059282 58080805 58025566 58046901 +PA30874 4325 HGNC:7162 ENSG00000156103 matrix metallopeptidase 16 MMP16 matrix metallopeptidase 16 (membrane-inserted) C8orf57, DKFZp761D112, MT3-MMP Yes Yes Comparative Toxicogenomics Database:4325, Ensembl:ENSG00000156103, GenAtlas:MMP16, GeneCard:MMP16, HGNC:HGNC:7162, HumanCyc Gene:HS08096, ModBase:P51512, NCBI Gene:4325, OMIM:602262, RefSeq DNA:NT_008046, RefSeq Protein:NP_005932, RefSeq Protein:NP_072086, RefSeq RNA:NM_005941, RefSeq RNA:NM_022564, UCSC Genome Browser:NM_005941, UniProtKB:P51512 No chr8 89049460 89339717 88037232 88327488 +PA30875 4326 HGNC:7163 ENSG00000198598 matrix metallopeptidase 17 MMP17 matrix metallopeptidase 17 (membrane-inserted) MT4-MMP Yes No Comparative Toxicogenomics Database:4326, Ensembl:ENSG00000198598, GenAtlas:MMP17, GeneCard:MMP17, HGNC:HGNC:7163, ModBase:Q9ULZ9, NCBI Gene:4326, OMIM:602285, RefSeq DNA:NT_009755, RefSeq Protein:NP_057239, RefSeq RNA:NM_016155, UCSC Genome Browser:NM_016155, UniProtKB:Q8IWC3, UniProtKB:Q9ULZ9 No chr12 132312941 132336316 131828393 131851771 +PA30876 4327 HGNC:7165 ENSG00000123342 matrix metallopeptidase 19 MMP19 MMP18, RASI-1 Yes No Comparative Toxicogenomics Database:4327, Ensembl:ENSG00000123342, GenAtlas:MMP19, GeneCard:MMP19, HGNC:HGNC:7165, HumanCyc Gene:HS04648, ModBase:Q99542, NCBI Gene:4327, OMIM:601807, RefSeq DNA:NT_029419, RefSeq Protein:NP_002420, RefSeq RNA:NM_002429, UCSC Genome Browser:NM_002429, UniProtKB:Q99542 No chr12 56229214 56236767 55835430 55842983 +PA30877 4313 HGNC:7166 ENSG00000087245 matrix metallopeptidase 2 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) CLG4, CLG4A, TBE-1 Yes Yes Comparative Toxicogenomics Database:4313, Ensembl:ENSG00000087245, GenAtlas:MMP2, GeneCard:MMP2, HGNC:HGNC:7166, HumanCyc Gene:HS01565, ModBase:P08253, NCBI Gene:4313, OMIM:120360, OMIM:259600, RefSeq DNA:NG_008989, RefSeq DNA:NT_010498, RefSeq Protein:NP_001121363, RefSeq Protein:NP_004521, RefSeq RNA:NM_001127891, RefSeq RNA:NM_004530, UCSC Genome Browser:NM_004530, UniProtKB:P08253 No chr16 55513081 55540586 55478830 55506691 +PA30878 9313 HGNC:7167 ENSG00000137674 matrix metallopeptidase 20 MMP20 enamelysin Yes No Comparative Toxicogenomics Database:9313, Ensembl:ENSG00000137674, GenAtlas:MMP20, GeneCard:MMP20, HGNC:HGNC:7167, HumanCyc Gene:HS06372, ModBase:O60882, NCBI Gene:9313, OMIM:204700, OMIM:604629, OMIM:612529, RefSeq DNA:NG_012151, RefSeq DNA:NT_033899, RefSeq Protein:NP_004762, RefSeq RNA:NM_004771, UCSC Genome Browser:NM_004771, UniProtKB:O60882 No chr11 102447566 102496063 102576835 102625332 +PA134885721 118856 HGNC:14357 ENSG00000154485 matrix metallopeptidase 21 MMP21 Yes No Comparative Toxicogenomics Database:118856, Ensembl:ENSG00000154485, HGNC:HGNC:14357, ModBase:Q8N119, NCBI Gene:118856, OMIM:608416, RefSeq DNA:NT_035040, RefSeq Protein:NP_671724, RefSeq RNA:NM_147191, UniProtKB:Q8N119 No chr10 127455022 127464390 125766453 125775821 +PA30879 8511 HGNC:7170 ENSG00000215914 matrix metallopeptidase 23A (pseudogene) MMP23A MIFR Yes No Ensembl:ENSG00000215914, GenAtlas:MMP23A, GeneCard:MMP23A, HGNC:HGNC:7170, NCBI Gene:8511, OMIM:603320, RefSeq DNA:NT_004350, RefSeq RNA:NR_002946, UCSC Genome Browser:NM_004659 No chr1 1631378 1633247 1699939 1701808 +PA30880 8510 HGNC:7171 ENSG00000189409 matrix metallopeptidase 23B MMP23B femalysin, matrix metalloproteinase 22, matrix metalloproteinase in the female reproductive tract MIFR, MIFR-1, MMP22 Yes No Ensembl:ENSG00000189409, GenAtlas:MMP23B, GeneCard:MMP23B, HGNC:HGNC:7171, ModBase:Q7LDM7, NCBI Gene:8510, OMIM:603321, RefSeq DNA:NT_004350, RefSeq Protein:NP_008914, RefSeq RNA:NM_006983, UCSC Genome Browser:NM_006983, UniProtKB:O75900 No chr1 1567060 1570030 1631681 1634654 +PA30881 10893 HGNC:7172 ENSG00000125966 matrix metallopeptidase 24 MMP24 matrix metallopeptidase 24 (membrane-inserted), membrane-type 5 matrix metalloproteinase MT5-MMP Yes No Ensembl:ENSG00000125966, GenAtlas:MMP24, GeneCard:MMP24, HGNC:HGNC:7172, HumanCyc Gene:HS04978, ModBase:Q9Y5R2, NCBI Gene:10893, OMIM:604871, RefSeq DNA:NT_011362, RefSeq Protein:NP_006681, RefSeq RNA:NM_006690, UCSC Genome Browser:NM_006690, UniProtKB:Q86VV6, UniProtKB:Q9Y5R2 No chr20 33814539 33864804 35226736 35277001 +PA166181565 101410538 HGNC:44421 ENSG00000126005 MMP24 opposite strand MMP24OS MMP24-AS1 Yes No Ensembl:ENSG00000126005, HGNC:HGNC:44421, NCBI Gene:101410538 No 0 0 0 0 +PA30882 64386 HGNC:14246 ENSG00000008516 matrix metallopeptidase 25 MMP25 MMP20, MMPL1, MT6-MMP Yes No Ensembl:ENSG00000008516, GenAtlas:MMP25, GeneCard:MMP25, HGNC:HGNC:14246, HumanCyc Gene:HS00251, ModBase:Q9NPA2, NCBI Gene:64386, OMIM:608482, RefSeq DNA:NT_010393, RefSeq Protein:NP_071913, RefSeq RNA:NM_022468, UCSC Genome Browser:NM_022468, UniProtKB:Q9NPA2 No chr16 3096682 3110727 3045963 3060729 +PA30883 56547 HGNC:14249 ENSG00000167346 matrix metallopeptidase 26 MMP26 matrilysin 2 MGC126590, MGC126592, endometase Yes No Comparative Toxicogenomics Database:56547, Ensembl:ENSG00000167346, GenAtlas:MMP26, GeneCard:MMP26, HGNC:HGNC:14249, HumanCyc Gene:HS09544, ModBase:Q9NRE1, NCBI Gene:56547, OMIM:605470, RefSeq DNA:NT_009237, RefSeq Protein:NP_068573, RefSeq RNA:NM_021801, UCSC Genome Browser:NM_021801, UniProtKB:Q9NRE1 No chr11 5009424 5013659 4988194 4992429 +PA30884 64066 HGNC:14250 ENSG00000137675 matrix metallopeptidase 27 MMP27 matrix metalloprotease 27 Yes No Comparative Toxicogenomics Database:64066, Ensembl:ENSG00000137675, GenAtlas:MMP27, GeneCard:MMP27, HGNC:HGNC:14250, HumanCyc Gene:HS06373, ModBase:Q9H306, NCBI Gene:64066, RefSeq DNA:NT_033899, RefSeq Protein:NP_071405, RefSeq RNA:NM_022122, UCSC Genome Browser:NM_022122, UniProtKB:Q9H306 No chr11 102562415 102576468 102690943 102705785 +PA30885 79148 HGNC:14366 ENSG00000271447 matrix metallopeptidase 28 MMP28 EPILYSIN, MM28, MMP-25, MMP-28 Yes No Comparative Toxicogenomics Database:79148, Ensembl:ENSG00000271447, GenAtlas:MMP28, GeneCard:MMP28, HGNC:HGNC:14366, HumanCyc Gene:HS05264, ModBase:Q9H239, NCBI Gene:79148, OMIM:608417, RefSeq DNA:NT_010799, RefSeq Protein:NP_001027449, RefSeq Protein:NP_077278, RefSeq RNA:NM_001032278, RefSeq RNA:NM_024302, UCSC Genome Browser:NM_024302, UniProtKB:Q96F04, UniProtKB:Q9H239 No chr17 34083316 34122711 35756249 35795707 +PA30886 4314 HGNC:7173 ENSG00000149968 matrix metallopeptidase 3 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) STMY, STMY1 Yes Yes Comparative Toxicogenomics Database:4314, Ensembl:ENSG00000149968, GenAtlas:MMP3, GeneCard:MMP3, HGNC:HGNC:7173, HumanCyc Gene:HS10866, ModBase:P08254, NCBI Gene:4314, OMIM:185250, RefSeq DNA:NG_012100, RefSeq DNA:NT_033899, RefSeq Protein:NP_002413, RefSeq RNA:NM_002422, UCSC Genome Browser:NM_002422, UniProtKB:P08254 No chr11 102706528 102714342 102835797 102843689 +PA30887 4316 HGNC:7174 ENSG00000137673 matrix metallopeptidase 7 MMP7 """matrilysin"", ""matrix metallopeptidase 7 (matrilysin, uterine)""" MPSL1, PUMP-1 Yes No Comparative Toxicogenomics Database:4316, Ensembl:ENSG00000137673, GenAtlas:MMP7, GeneCard:MMP7, HGNC:HGNC:7174, HumanCyc Gene:HS06371, ModBase:P09237, NCBI Gene:4316, OMIM:178990, RefSeq DNA:NT_033899, RefSeq Protein:NP_002414, RefSeq RNA:NM_002423, UCSC Genome Browser:NM_002423, UniProtKB:P09237 No chr11 102391239 102401478 102520508 102530753 +PA30888 4317 HGNC:7175 ENSG00000118113 matrix metallopeptidase 8 MMP8 matrix metallopeptidase 8 (neutrophil collagenase) CLG1 Yes No Comparative Toxicogenomics Database:4317, Ensembl:ENSG00000118113, GenAtlas:MMP8, GeneCard:MMP8, HGNC:HGNC:7175, HumanCyc Gene:HS04191, ModBase:P22894, NCBI Gene:4317, OMIM:120355, RefSeq DNA:NG_012101, RefSeq DNA:NT_033899, RefSeq Protein:NP_002415, RefSeq RNA:NM_002424, UCSC Genome Browser:NM_002424, UniProtKB:P22894 No chr11 102582526 102595734 102711795 102724967 +PA30889 4318 HGNC:7176 ENSG00000100985 matrix metallopeptidase 9 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) CLG4B Yes Yes Comparative Toxicogenomics Database:4318, Ensembl:ENSG00000100985, GenAtlas:MMP9, GeneCard:MMP9, HGNC:HGNC:7176, HumanCyc Gene:HS02175, ModBase:P14780, NCBI Gene:4318, OMIM:120361, OMIM:603932, OMIM:613073, RefSeq DNA:NG_011468, RefSeq DNA:NT_011362, RefSeq Protein:NP_004985, RefSeq RNA:NM_004994, UCSC Genome Browser:NM_004994, UniProtKB:P14780 No chr20 44637547 44645200 46008908 46016561 +PA30891 22915 HGNC:7178 ENSG00000138722 multimerin 1 MMRN1 endothelial cell multimerin, glycoprotein Ia* ECM, EMILIN4, GPIa*, MMRN Yes No Comparative Toxicogenomics Database:22915, Ensembl:ENSG00000138722, GenAtlas:MMRN1, GeneCard:MMRN1, HGNC:HGNC:7178, HumanCyc Gene:HS06541, ModBase:Q13201, NCBI Gene:22915, OMIM:601456, RefSeq DNA:NT_016354, RefSeq Protein:NP_031377, RefSeq RNA:NM_007351, UCSC Genome Browser:NM_007351, UniProtKB:Q13201 No chr4 90816003 90875780 89879539 89954629 +PA134991578 79812 HGNC:19888 ENSG00000173269 multimerin 2 MMRN2 EndoGlyx-1 p125/p140 EMILIN3, EndoGlyx-1, FLJ13465 Yes No Ensembl:ENSG00000173269, GeneCard:MMRN2, HGNC:HGNC:19888, HumanCyc Gene:HS16192, ModBase:Q9H8L6, NCBI Gene:79812, OMIM:608925, RefSeq DNA:NT_030059, RefSeq Protein:NP_079032, RefSeq RNA:NM_024756, UniProtKB:Q9H8L6 No chr10 88695297 88717425 86935540 86971311 +PA162395974 64210 HGNC:13824 ENSG00000155229 MMS19 homolog, cytosolic iron-sulfur assembly component MMS19 MET18 homolog (S. cerevisiae), MMS19 nucleotide excision repair homolog (S. cerevisiae) CIAO4, MET18, MMS19L, hMMS19 Yes No Ensembl:ENSG00000155229, GeneCard:MMS19, HGNC:HGNC:13824, HumanCyc Gene:HS08035, ModBase:Q96RK5, NCBI Gene:64210, RefSeq DNA:NT_030059, RefSeq Protein:NP_071757, RefSeq RNA:NM_022362, UniProtKB:Q96T76 No chr10 99218081 99258521 97458324 97498794 +PA134878007 253714 HGNC:21475 ENSG00000146263 MMS22 like, DNA repair protein MMS22L MMS22-like, DNA repair protein C6orf167, dJ39B17.2 Yes No Ensembl:ENSG00000146263, GeneCard:C6orf167, HGNC:HGNC:21475, NCBI Gene:253714, RefSeq DNA:NT_025741, RefSeq Protein:NP_940870, RefSeq RNA:NM_198468, UniProtKB:Q6ZRQ5 No chr6 97590037 97731126 97142161 97283437 +PA31327 4594 HGNC:7526 ENSG00000146085 methylmalonyl-CoA mutase MMUT """Methylmalonyl-CoA mutase, mitochondrial"", ""methylmalonyl CoA mutase""" MCM, MUT Yes No Comparative Toxicogenomics Database:4594, Ensembl:ENSG00000146085, GenAtlas:MUT, GeneCard:MUT, HGNC:HGNC:7526, HumanCyc Gene:HS07322, ModBase:P22033, NCBI Gene:4594, OMIM:251000, OMIM:609058, RefSeq DNA:NG_007100, RefSeq DNA:NT_007592, RefSeq Protein:NP_000246, RefSeq RNA:NM_000255, UCSC Genome Browser:NM_000255, UniProtKB:P22033 No chr6 49398073 49431041 49430360 49463328 +PA30893 4330 HGNC:7180 ENSG00000169184 MN1 proto-oncogene, transcriptional regulator MN1 meningioma (disrupted in balanced translocation) 1, probable tumor suppressor protein MN1 MGCR, MGCR1, MGCR1-PEN Yes No Comparative Toxicogenomics Database:4330, Ensembl:ENSG00000169184, GenAtlas:MN1, GeneCard:MN1, HGNC:HGNC:7180, HumanCyc Gene:HS09894, ModBase:Q10571, NCBI Gene:4330, OMIM:156100, OMIM:607174, RefSeq DNA:NG_023258, RefSeq DNA:NT_011520, RefSeq Protein:NP_002421, RefSeq RNA:NM_002430, UCSC Genome Browser:NM_002430, UniProtKB:Q10571 No chr22 28144265 28197486 27748277 27801498 +PA30894 4331 HGNC:7181 ENSG00000020426 MNAT1 component of CDK activating kinase MNAT1 """CDK-activating kinase assembly factor"", ""MNAT CDK-activating kinase assembly factor 1"", ""MNAT1, CDK activating kinase assembly factor"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)""" MAT1, RNF66 Yes No Comparative Toxicogenomics Database:4331, Ensembl:ENSG00000020426, GenAtlas:MNAT1, GeneCard:MNAT1, HGNC:HGNC:7181, HumanCyc Gene:HS00403, ModBase:P51948, NCBI Gene:4331, OMIM:602659, RefSeq DNA:NT_026437, RefSeq Protein:NP_001171434, RefSeq Protein:NP_002422, RefSeq RNA:NM_001177963, RefSeq RNA:NM_002431, UCSC Genome Browser:NM_002431, UniProtKB:P51948 No chr14 61201459 61435398 60734735 60969881 +PA143485544 84057 HGNC:24839 ENSG00000121211 meiotic nuclear divisions 1 MND1 meiotic nuclear divisions 1 homolog (S. cerevisiae) GAJ Yes No Comparative Toxicogenomics Database:84057, Ensembl:ENSG00000121211, GeneCard:MND1, HGNC:HGNC:24839, HumanCyc Gene:HS13015, ModBase:Q9BWT6, NCBI Gene:84057, OMIM:611422, RefSeq DNA:NT_016354, RefSeq Protein:NP_115493, RefSeq RNA:NM_032117, UniProtKB:Q9BWT6 No chr4 154265801 154336247 153344649 153415097 +PA30895 4332 HGNC:7183 ENSG00000163563 myeloid cell nuclear differentiation antigen MNDA PYHIN3 Yes No Comparative Toxicogenomics Database:4332, Ensembl:ENSG00000163563, GenAtlas:MNDA, GeneCard:MNDA, HGNC:HGNC:7183, HumanCyc Gene:HS08881, ModBase:P41218, NCBI Gene:4332, OMIM:159553, RefSeq DNA:NT_004487, RefSeq Protein:NP_002423, RefSeq RNA:NM_002432, UCSC Genome Browser:NM_002432, UniProtKB:P41218, UniProtKB:Q5VUU6 No chr1 158801168 158819270 158831378 158849480 +PA142671346 55329 HGNC:29636 ENSG00000138587 meiosis specific nuclear structural 1 MNS1 meiosis-specific nuclear structural 1, spermatogenesis associated 40 FLJ11222, SPATA40 Yes No Comparative Toxicogenomics Database:55329, Ensembl:ENSG00000138587, GeneCard:MNS1, HGNC:HGNC:29636, HumanCyc Gene:HS13731, ModBase:Q8NEH6, NCBI Gene:55329, OMIM:610766, RefSeq DNA:NT_010194, RefSeq Protein:NP_060835, RefSeq RNA:NM_018365, UniProtKB:B3KQ70, UniProtKB:Q8NEH6 No chr15 56720929 56757335 56428731 56465137 +PA30898 4335 HGNC:7188 ENSG00000070444 MAX network transcriptional repressor MNT """MNT, MAX dimerization protein"", ""Max-interacting protein"", ""myc antagonist""" MAD6, MXD6, ROX, bHLHd3, lncRNA-HAL Yes No Comparative Toxicogenomics Database:4335, Ensembl:ENSG00000070444, GenAtlas:MNT, GeneCard:MNT, HGNC:HGNC:7188, HumanCyc Gene:HS00996, ModBase:Q99583, NCBI Gene:4335, OMIM:603039, RefSeq DNA:NT_010718, RefSeq Protein:NP_064706, RefSeq RNA:NM_020310, UCSC Genome Browser:NM_020310, UniProtKB:Q99583 No chr17 2287354 2304258 2384060 2400964 +PA162396041 3110 HGNC:4979 ENSG00000130675 motor neuron and pancreas homeobox 1 MNX1 HB9, HLXB9, HOXHB9, SCRA1 Yes No Ensembl:ENSG00000130675, GeneCard:MNX1, HGNC:HGNC:4979, HumanCyc Gene:HS05418, ModBase:P50219, NCBI Gene:3110, OMIM:142994, OMIM:176450, RefSeq DNA:NG_013212, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_001158727, RefSeq Protein:NP_005506, RefSeq RNA:NM_001165255, RefSeq RNA:NM_005515, UniProtKB:P50219 No chr7 156797547 156803347 157004853 157010653 +PA134908381 64112 HGNC:16658 ENSG00000165943 modulator of apoptosis 1 MOAP1 paraneoplastic Ma antigen family member 4 MAP-1, PNMA4 Yes No Comparative Toxicogenomics Database:64112, Ensembl:ENSG00000165943, GeneCard:MOAP1, HGNC:HGNC:16658, HumanCyc Gene:HS15385, ModBase:Q96BY2, NCBI Gene:64112, OMIM:609485, RefSeq DNA:NT_026437, RefSeq Protein:NP_071434, RefSeq RNA:NM_022151, UniProtKB:Q96BY2 No chr14 93648541 93651249 93182196 93184904 +PA25894 55233 HGNC:16015 ENSG00000114978 MOB kinase activator 1A MOB1A C2orf6, FLJ10788, FLJ11595, MOB1, MOBK1B, MOBKL1B, Mats1, Mob4B Yes No Comparative Toxicogenomics Database:55233, Ensembl:ENSG00000114978, GenAtlas:MOBK1B, GeneCard:MOBK1B, GeneCard:MOBKL1B, HGNC:HGNC:16015, HumanCyc Gene:HS12830, NCBI Gene:55233, OMIM:609281, RefSeq DNA:NT_022184, RefSeq Protein:NP_060691, RefSeq RNA:NM_018221, UCSC Genome Browser:NM_018221, UniProtKB:Q9H8S9 No chr2 74381394 74406006 74152598 74178967 +PA134871841 92597 HGNC:29801 ENSG00000173542 MOB kinase activator 1B MOB1B Mob4A protein MOB4A, MOBKL1A Yes No Comparative Toxicogenomics Database:92597, Ensembl:ENSG00000173542, GeneCard:MOBKL1A, HGNC:HGNC:29801, HumanCyc Gene:HS16221, ModBase:Q7L9L4, NCBI Gene:92597, OMIM:609282, RefSeq DNA:NT_022778, RefSeq Protein:NP_775739, RefSeq RNA:NM_173468, UniProtKB:B3KSH6, UniProtKB:Q7L9L4 No chr4 71768043 71853891 70901970 70988174 +PA166048963 81532 HGNC:24904 ENSG00000182208 MOB kinase activator 2 MOB2 MOB2 Mps One Binder homolog (yeast) HCCA2 Yes No Ensembl:ENSG00000182208, HGNC:HGNC:24904, NCBI Gene:81532 No chr11 1490685 1507948 1469448 1486779 +PA134901591 126308 HGNC:29802 ENSG00000172081 MOB kinase activator 3A MOB3A MOB LAK MOB-LAK, MOB1C, MOBKL2A, moblak Yes No Comparative Toxicogenomics Database:126308, Ensembl:ENSG00000172081, GeneCard:MOBKL2A, HGNC:HGNC:29802, HumanCyc Gene:HS16053, ModBase:Q96BX8, NCBI Gene:126308, RefSeq DNA:NT_011255, RefSeq Protein:NP_570719, RefSeq RNA:NM_130807, UniProtKB:Q96BX8 No chr19 2071031 2096501 2071036 2096502 +PA134886513 79817 HGNC:23825 ENSG00000120162 MOB kinase activator 3B MOB3B monopolar spindle 1 binding, MOB1, domain containing C9orf35, FLJ13204, MOB1D, MOBKL2B Yes Yes Ensembl:ENSG00000120162, GeneCard:MOBKL2B, HGNC:HGNC:23825, HumanCyc Gene:HS12979, ModBase:Q86TA1, NCBI Gene:79817, RefSeq DNA:NT_008413, RefSeq Protein:NP_079037, RefSeq RNA:NM_024761, UniProtKB:Q86TA1 No chr9 27325207 27530223 27325209 27529852 +PA134928770 148932 HGNC:29800 ENSG00000142961 MOB kinase activator 3C MOB3C MOB1E, MOBKL2C Yes No Comparative Toxicogenomics Database:148932, Ensembl:ENSG00000142961, GeneCard:MOBKL2C, HGNC:HGNC:29800, HumanCyc Gene:HS13942, ModBase:Q70IA8, NCBI Gene:148932, RefSeq DNA:NT_032977, RefSeq Protein:NP_660322, RefSeq Protein:NP_958805, RefSeq RNA:NM_145279, RefSeq RNA:NM_201403, UniProtKB:Q70IA8 No chr1 47073387 47082563 46607715 46616891 +PA162396053 25843 HGNC:17261 ENSG00000115540 MOB family member 4, phocein MOB4 """phocein"", ""phocein, Mob-like protein""" 2C4D, CGI-95, DKFZP564M112, MOB3, MOBKL3, PHOCN, PREI3 Yes No Ensembl:ENSG00000115540, GeneCard:MOBKL3, HGNC:HGNC:17261, HumanCyc Gene:HS12847, ModBase:Q9Y3A3, NCBI Gene:25843, OMIM:609361, RefSeq DNA:NT_005403, RefSeq Protein:NP_001094289, RefSeq Protein:NP_001191023, RefSeq Protein:NP_056202, RefSeq Protein:NP_955776, RefSeq RNA:NM_001100819, RefSeq RNA:NM_001204094, RefSeq RNA:NM_015387, RefSeq RNA:NM_199482, UniProtKB:B4DML0, UniProtKB:Q9Y3A3 No chr2 198380295 198418423 197515571 197553699 +PA30899 4336 HGNC:7189 ENSG00000168314 myelin associated oligodendrocyte basic protein MOBP myelin-associated oligodendrocyte basic protein Yes Yes Comparative Toxicogenomics Database:4336, Ensembl:ENSG00000168314, GenAtlas:MOBP, GeneCard:MOBP, HGNC:HGNC:7189, HumanCyc Gene:HS09735, NCBI Gene:4336, OMIM:600948, RefSeq DNA:NT_022517, RefSeq Protein:NP_891980, RefSeq RNA:NM_182935, RefSeq RNA:NR_003090, UCSC Genome Browser:NM_006501, UniProtKB:Q13875 No chr3 39509064 39570988 39467573 39529497 +PA134964534 55034 HGNC:18234 ENSG00000075643 molybdenum cofactor sulfurase MOCOS human molybdenum cofactor sulfurase FLJ20733, HMCS, MCS, MOS Yes Yes Comparative Toxicogenomics Database:55034, Ensembl:ENSG00000075643, GeneCard:MOCOS, HGNC:HGNC:18234, HumanCyc Gene:HS12240, ModBase:Q96EN8, NCBI Gene:55034, OMIM:613274, RefSeq DNA:NT_010966, RefSeq Protein:NP_060417, RefSeq RNA:NM_017947, UniProtKB:Q96EN8 No chr18 33767480 33848685 36187517 36268722 +PA30900 4337 HGNC:7190 ENSG00000124615 molybdenum cofactor synthesis 1 MOCS1 MOCOD, MOCS1A, MOCS1B Yes No Comparative Toxicogenomics Database:4337, Ensembl:ENSG00000124615, GenAtlas:MOCS1, GeneCard:MOCS1, HGNC:HGNC:7190, HumanCyc Gene:HS04808, ModBase:Q5TCE2, NCBI Gene:4337, OMIM:252150, OMIM:603707, RefSeq DNA:NG_009297, RefSeq DNA:NT_007592, RefSeq Protein:NP_001068566, RefSeq Protein:NP_005933, RefSeq Protein:NP_005934, RefSeq Protein:NP_620306, RefSeq RNA:NM_001075098, RefSeq RNA:NM_005942, RefSeq RNA:NM_005943, RefSeq RNA:NM_138928, RefSeq RNA:NR_033233, UCSC Genome Browser:NM_005942, UniProtKB:Q9NZB8 No chr6 39872034 39902290 39904258 39934551 +PA30902 27187 HGNC:7191 ENSG00000260347 molybdenum cofactor synthesis 1 pseudogene 1 MOCS1P1 Yes No Ensembl:ENSG00000260347, GenAtlas:MOCS1P1, GenAtlas:MOCS1P2, GeneCard:MOCS1P1, GeneCard:MOCS1P2, HGNC:HGNC:7191, NCBI Gene:27187, RefSeq DNA:NG_001271, RefSeq DNA:NT_010498 No chr16 48530693 48533334 48496606 48499426 +PA30903 4338 HGNC:7193 ENSG00000164172 molybdenum cofactor synthesis 2 MOCS2 molybdopterin synthase catalytic subunit, molybdopterin synthase large subunit, molybdopterin synthase small subunit MOCO1, MOCS2A, MOCS2B Yes No Comparative Toxicogenomics Database:4338, Ensembl:ENSG00000164172, GenAtlas:MOCS2, GeneCard:MOCS2, HGNC:HGNC:7193, HumanCyc Gene:HS09033, ModBase:O96007, ModBase:O96033, NCBI Gene:4338, OMIM:252150, OMIM:603708, RefSeq DNA:NG_008435, RefSeq DNA:NT_006713, RefSeq Protein:NP_004522, RefSeq Protein:NP_789776, RefSeq RNA:NM_004531, RefSeq RNA:NM_176806, UCSC Genome Browser:NM_004531, UniProtKB:O96007, UniProtKB:O96033 No chr5 52391509 52405602 53095679 53109772 +PA30904 27304 HGNC:15765 ENSG00000124217 molybdenum cofactor synthesis 3 MOCS3 """Adenylyltransferase and sulfurtransferase MOCS3"", ""UBA4, ubiquitin-activating enzyme E1 homolog (yeast)"", ""ubiquitin-like modifier activating enzyme 4""" UBA4, dJ914P20.3 Yes No Comparative Toxicogenomics Database:27304, Ensembl:ENSG00000124217, GenAtlas:MOCS3, GeneCard:MOCS3, HGNC:HGNC:15765, HumanCyc Gene:HS04742, ModBase:O95396, NCBI Gene:27304, OMIM:609277, RefSeq DNA:NT_011362, RefSeq Protein:NP_055299, RefSeq RNA:NM_014484, UCSC Genome Browser:NM_014484, UniProtKB:O95396 No chr20 49575351 49578400 50958814 50961863 +PA134976916 326305 HGNC:20021 molybdenum cofactor synthesis 3 pseudogene 1 MOCS3P1 Yes No HGNC:HGNC:20021, NCBI Gene:326305, RefSeq DNA:NG_002557, RefSeq DNA:NT_026437 No chr14 62330934 62332767 61864216 61866049 +PA30905 4340 HGNC:7197 ENSG00000204655 myelin oligodendrocyte glycoprotein MOG BTN6, BTNL11 Yes No Comparative Toxicogenomics Database:4340, Ensembl:ENSG00000204655, GenAtlas:MOG, GeneCard:MOG, HGNC:HGNC:7197, HumanCyc Gene:HS06325, ModBase:Q99605, NCBI Gene:4340, OMIM:159465, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001008229, RefSeq Protein:NP_001008230, RefSeq Protein:NP_001163889, RefSeq Protein:NP_002424, RefSeq Protein:NP_996532, RefSeq Protein:NP_996533, RefSeq Protein:NP_996534, RefSeq Protein:NP_996535, RefSeq Protein:NP_996536, RefSeq Protein:NP_996537, RefSeq RNA:NM_001008228, RefSeq RNA:NM_001008229, RefSeq RNA:NM_001170418, RefSeq RNA:NM_002433, RefSeq RNA:NM_206809, RefSeq RNA:NM_206810, RefSeq RNA:NM_206811, RefSeq RNA:NM_206812, RefSeq RNA:NM_206813, RefSeq RNA:NM_206814, UCSC Genome Browser:NM_002433, UniProtKB:Q16653, UniProtKB:Q29ZN8, UniProtKB:Q5SSB8, UniProtKB:Q5STL9, UniProtKB:Q5SUK4, UniProtKB:Q5SUK7, UniProtKB:Q5SUK9, UniProtKB:Q5SUL0, UniProtKB:Q5SUL1 No chr6 29624758 29640149 29656981 29672372 +PA27305 116255 HGNC:18210 ENSG00000124003 monoacylglycerol O-acyltransferase 1 MOGAT1 DGAT2L, DGAT2L1, MGAT1 Yes No Comparative Toxicogenomics Database:116255, Ensembl:ENSG00000124003, GenAtlas:MOGAT1, GeneCard:MOGAT1, HGNC:HGNC:18210, HumanCyc Gene:HS04706, NCBI Gene:116255, OMIM:610268, RefSeq DNA:NT_005403, RefSeq Protein:NP_477513, RefSeq RNA:NM_058165, UCSC Genome Browser:NM_058165, UniProtKB:Q96PD6 No chr2 223536457 223575005 222671738 222709930 +PA134936582 80168 HGNC:23248 ENSG00000166391 monoacylglycerol O-acyltransferase 2 MOGAT2 DGAT2L5, FLJ22644, MGAT2 Yes No Comparative Toxicogenomics Database:80168, Ensembl:ENSG00000166391, GeneCard:MOGAT2, HGNC:HGNC:23248, HumanCyc Gene:HS15437, ModBase:Q3SYC2, NCBI Gene:80168, OMIM:610270, RefSeq DNA:NT_167190, RefSeq Protein:NP_079374, RefSeq RNA:NM_025098, UniProtKB:Q3SYC2 No chr11 75428934 75442331 75717819 75732958 +PA134959238 346606 HGNC:23249 ENSG00000106384 monoacylglycerol O-acyltransferase 3 MOGAT3 DC7, DGAT2L2, MGAT3 Yes No Ensembl:ENSG00000106384, GeneCard:MOGAT3, HGNC:HGNC:23249, ModBase:Q86VF5, NCBI Gene:346606, OMIM:610184, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_835470, RefSeq RNA:NM_178176, UniProtKB:Q86VF5 No chr7 100839010 100844302 101192886 101201131 +PA164723075 7841 HGNC:24862 ENSG00000115275 mannosyl-oligosaccharide glucosidase MOGS glucosidase I, processing A-glucosidase I CWH41, DER7, GCS1 Yes No Comparative Toxicogenomics Database:7841, Ensembl:ENSG00000115275, GeneCard:MOGS, HGNC:HGNC:24862, HumanCyc Gene:HS03863, NCBI Gene:7841, OMIM:601336, OMIM:606056, RefSeq DNA:NG_008922, RefSeq DNA:NT_022184, RefSeq Protein:NP_001139630, RefSeq Protein:NP_006293, RefSeq RNA:NM_001146158, RefSeq RNA:NM_006302, UCSC Genome Browser:NM_006302, UniProtKB:Q13724, UniProtKB:Q58F09 No chr2 74688184 74692537 74461057 74465410 +PA34187 5891 HGNC:9833 ENSG00000080823 MOK protein kinase MOK RAGE, RAGE1, STK30 Yes No Comparative Toxicogenomics Database:5891, Ensembl:ENSG00000080823, GenAtlas:RAGE, GeneCard:RAGE, HGNC:HGNC:9833, ModBase:Q9UQ07, NCBI Gene:5891, OMIM:605762, RefSeq DNA:NT_026437, RefSeq Protein:NP_055041, RefSeq RNA:NM_014226, UCSC Genome Browser:NM_014226, UniProtKB:Q9UQ07 No chr14 102690834 102771537 102224450 102305200 +PA142671340 84315 HGNC:28207 ENSG00000164077 MON1 homolog A, secretory trafficking associated MON1A MON1 homolog A (yeast), MON1 secretory trafficking family member A MGC13272, SAND1 Yes No Comparative Toxicogenomics Database:84315, Ensembl:ENSG00000164077, GeneCard:MON1A, HGNC:HGNC:28207, HumanCyc Gene:HS09002, ModBase:Q86VX9, NCBI Gene:84315, OMIM:611464, RefSeq DNA:NT_022517, RefSeq Protein:NP_001135973, RefSeq Protein:NP_115731, RefSeq RNA:NM_001142501, RefSeq RNA:NM_032355, UniProtKB:Q86VX9 No chr3 49946302 49967445 49908869 49930012 +PA142671341 22879 HGNC:25020 ENSG00000103111 MON1 homolog B, secretory trafficking associated MON1B MON1 homolog B (yeast), MON1 secretory trafficking family member B HSRG1, KIAA0872, SAND2 Yes No Ensembl:ENSG00000103111, GeneCard:MON1B, HGNC:HGNC:25020, HumanCyc Gene:HS02456, ModBase:Q7L1V2, NCBI Gene:22879, OMIM:608954, RefSeq DNA:NT_010498, RefSeq Protein:NP_055755, RefSeq RNA:NM_014940, UniProtKB:Q6ZR87, UniProtKB:Q7L1V2 No chr16 77224821 77233543 77190919 77199646 +PA143485545 23041 HGNC:29177 ENSG00000061987 MON2 homolog, regulator of endosome-to-Golgi trafficking MON2 MON2 homolog (S. cerevisiae) KIAA1040 Yes No Comparative Toxicogenomics Database:23041, Ensembl:ENSG00000061987, GeneCard:MON2, HGNC:HGNC:29177, NCBI Gene:23041, RefSeq DNA:NT_029419, RefSeq Protein:NP_055841, RefSeq RNA:NM_015026, UniProtKB:Q7Z3U7 No chr12 62860597 62991363 62466817 62598956 +PA30906 27136 HGNC:7198 ENSG00000114487 MORC family CW-type zinc finger 1 MORC1 cancer/testis antigen 33 CT33, MORC, ZCW6 Yes No Ensembl:ENSG00000114487, GenAtlas:MORC1, GeneCard:MORC1, HGNC:HGNC:7198, HumanCyc Gene:HS03773, ModBase:Q86VD1, NCBI Gene:27136, OMIM:603205, RefSeq DNA:NT_005612, RefSeq Protein:NP_055244, RefSeq RNA:NM_014429, UCSC Genome Browser:NM_014429, UniProtKB:Q86VD1 No chr3 108676814 108836993 108958239 109118146 +PA134986990 22880 HGNC:23573 ENSG00000133422 MORC family CW-type zinc finger 2 MORC2 AC004542.C22.1, KIAA0852, ZCW3, ZCWCC1 Yes No Ensembl:ENSG00000133422, GeneCard:MORC2, HGNC:HGNC:23573, HumanCyc Gene:HS05761, NCBI Gene:22880, RefSeq DNA:NT_011520, RefSeq Protein:NP_055756, RefSeq RNA:NM_014941, UniProtKB:B2RNB1, UniProtKB:Q9Y6X9 No chr22 31322598 31364483 30925130 30968497 +PA145149379 150291 HGNC:26662 ENSG00000235989 MORC2 antisense RNA 1 MORC2-AS1 FLJ35801 Yes No Ensembl:ENSG00000235989, GeneCard:C22orf27, HGNC:HGNC:26662, NCBI Gene:150291, RefSeq DNA:NT_011520, RefSeq RNA:NR_026920 No chr22 31318295 31322641 30922308 30926654 +PA128394632 23515 HGNC:23572 ENSG00000159256 MORC family CW-type zinc finger 3 MORC3 KIAA0136, NXP2, ZCW5, ZCWCC3 Yes No Comparative Toxicogenomics Database:23515, Ensembl:ENSG00000159256, GeneCard:MORC3, HGNC:HGNC:23572, ModBase:Q14149, NCBI Gene:23515, OMIM:610078, RefSeq DNA:NT_011512, RefSeq Protein:NP_056173, RefSeq RNA:NM_015358, UCSC Genome Browser:NM_015358, UniProtKB:Q14149, UniProtKB:Q4VBZ9 No chr21 37692360 37749999 36320189 36376646 +PA128394718 79710 HGNC:23485 ENSG00000133131 MORC family CW-type zinc finger 4 MORC4 FLJ11565, ZCW4, ZCWCC2 Yes No Ensembl:ENSG00000133131, GeneCard:MORC4, HGNC:HGNC:23485, HumanCyc Gene:HS05743, ModBase:Q8TE76, NCBI Gene:79710, RefSeq DNA:NG_016392, RefSeq DNA:NT_011651, RefSeq Protein:NP_001078823, RefSeq Protein:NP_078933, RefSeq RNA:NM_001085354, RefSeq RNA:NM_024657, UCSC Genome Browser:NM_024657, UniProtKB:A1YR23, UniProtKB:B4DTP6, UniProtKB:Q8TE76 No chrX 106183964 106243474 106940300 107000244 +PA35666 10934 HGNC:15773 ENSG00000234801 mortality factor 4 MORF4 Yes No Ensembl:ENSG00000234801, GeneCard:MORF4, HGNC:HGNC:15773, NCBI Gene:10934, OMIM:116960, RefSeq DNA:NT_016354, RefSeq Protein:NP_006783, RefSeq RNA:NM_006792, UCSC Genome Browser:NM_006792 No chr4 174537087 174537794 173615736 173616842 +PA134895182 10933 HGNC:16989 ENSG00000185787 mortality factor 4 like 1 MORF4L1 Esa1p-associated factor 3 homolog (S. cerevisiae), MORF-related gene on chromosome 15 Eaf3, HsT17725, MEAF3, MORFRG15, MRG15 Yes No Ensembl:ENSG00000185787, GeneCard:MORF4L1, HGNC:HGNC:16989, ModBase:Q9UBU8, NCBI Gene:10933, OMIM:607303, RefSeq DNA:NT_010194, RefSeq Protein:NP_006782, RefSeq Protein:NP_996670, RefSeq RNA:NM_006791, RefSeq RNA:NM_206839, UniProtKB:Q9UBU8 No chr15 79132903 79190081 78872781 78897739 +PA134989698 326591 HGNC:20400 ENSG00000218283 mortality factor 4 like 1 pseudogene 1 MORF4L1P1 MRG1 Yes No Ensembl:ENSG00000218283, GeneCard:MORF4L1P1, HGNC:HGNC:20400, NCBI Gene:326591, RefSeq DNA:NG_002588, RefSeq DNA:NT_167186 No chr1 220427176 220427883 220253834 220254541 +PA134899230 326594 HGNC:20401 mortality factor 4 like 1 pseudogene 2 MORF4L1P2 Yes No GeneCard:MORF4L1P2, HGNC:HGNC:20401, NCBI Gene:326594, RefSeq DNA:NG_002591, RefSeq DNA:NT_009714 No chr12 12351831 12353802 12198897 12200866 +PA134986568 326593 HGNC:20402 ENSG00000255040 mortality factor 4 like 1 pseudogene 3 MORF4L1P3 MRG11 Yes No Ensembl:ENSG00000255040, GeneCard:MORF4L1P3, HGNC:HGNC:20402, NCBI Gene:326593, RefSeq DNA:NG_002590, RefSeq DNA:NT_009237 No chr11 14695128 14695835 14673582 14674289 +PA134925837 9643 HGNC:16849 ENSG00000123562 mortality factor 4 like 2 MORF4L2 MORF-related gene X KIAA0026, MRGX Yes No Comparative Toxicogenomics Database:9643, Ensembl:ENSG00000123562, GeneCard:MORF4L2, HGNC:HGNC:16849, HumanCyc Gene:HS04671, ModBase:Q15014, NCBI Gene:9643, OMIM:300409, RefSeq DNA:NT_011651, RefSeq Protein:NP_001135890, RefSeq Protein:NP_001135891, RefSeq Protein:NP_001135892, RefSeq Protein:NP_001135893, RefSeq Protein:NP_001135894, RefSeq Protein:NP_001135895, RefSeq Protein:NP_001135896, RefSeq Protein:NP_001135897, RefSeq Protein:NP_001135898, RefSeq Protein:NP_001135899, RefSeq Protein:NP_001135900, RefSeq Protein:NP_001135901, RefSeq Protein:NP_001135902, RefSeq Protein:NP_001135903, RefSeq Protein:NP_001135904, RefSeq Protein:NP_036418, RefSeq RNA:NM_001142418, RefSeq RNA:NM_001142419, RefSeq RNA:NM_001142420, RefSeq RNA:NM_001142421, RefSeq RNA:NM_001142422, RefSeq RNA:NM_001142423, RefSeq RNA:NM_001142424, RefSeq RNA:NM_001142425, RefSeq RNA:NM_001142426, RefSeq RNA:NM_001142427, RefSeq RNA:NM_001142428, RefSeq RNA:NM_001142429, RefSeq RNA:NM_001142430, RefSeq RNA:NM_001142431, RefSeq RNA:NM_001142432, RefSeq RNA:NM_012286, UniProtKB:Q15014 No chrX 102930426 102943086 103675498 103688158 +PA134937199 643915 HGNC:20403 ENSG00000250147 mortality factor 4 like 2 pseudogene 1 MORF4L2P1 MRG4 Yes No Ensembl:ENSG00000250147, GeneCard:MORF4L2P1, HGNC:HGNC:20403, NCBI Gene:643915, RefSeq DNA:NG_011863, RefSeq DNA:NT_022853 No chr4 54952852 54954618 54086685 54088451 +PA142671342 79906 HGNC:25852 ENSG00000116151 MORN repeat containing 1 MORN1 FLJ13941 Yes No Comparative Toxicogenomics Database:79906, Ensembl:ENSG00000116151, GeneCard:MORN1, HGNC:HGNC:25852, HumanCyc Gene:HS12859, ModBase:Q5T089, NCBI Gene:79906, RefSeq DNA:NT_004350, RefSeq Protein:NP_079124, RefSeq RNA:NM_024848, UniProtKB:Q5T089 No chr1 2251719 2323190 2321253 2391751 +PA142671343 729967 HGNC:30166 ENSG00000188010 MORN repeat containing 2 MORN2 MOPT Yes No Ensembl:ENSG00000188010, GeneCard:MORN2, HGNC:HGNC:30166, ModBase:Q502X0, NCBI Gene:729967, RefSeq DNA:NT_022184, RefSeq Protein:NP_001138922, RefSeq RNA:NM_001145450, UniProtKB:Q502X0 No chr2 39103103 39109850 38875962 38882709 +PA143485546 283385 HGNC:29807 ENSG00000139714 MORN repeat containing 3 MORN3 Yes No Comparative Toxicogenomics Database:283385, Ensembl:ENSG00000139714, GeneCard:MORN3, HGNC:HGNC:29807, HumanCyc Gene:HS13794, ModBase:Q6PF18, NCBI Gene:283385, RefSeq DNA:NT_009775, RefSeq Protein:NP_776254, RefSeq RNA:NM_173855, UniProtKB:Q6PF18 No chr12 122089024 122110531 121651108 121672650 +PA162396074 118812 HGNC:24001 ENSG00000171160 MORN repeat containing 4 MORN4 44050 protein, retinophilin homolog (Drosophila) C10orf83, FLJ25925, bA548K23.4, rtp Yes No Ensembl:ENSG00000171160, GeneCard:MORN4, HGNC:HGNC:24001, ModBase:Q8NDC4, NCBI Gene:118812, RefSeq DNA:NT_030059, RefSeq Protein:NP_001092301, RefSeq Protein:NP_849154, RefSeq RNA:NM_001098831, RefSeq RNA:NM_178832, UniProtKB:A6XB87, UniProtKB:Q8NDC4 No chr10 99374310 99393913 97614553 97634156 +PA25975 254956 HGNC:17841 ENSG00000185681 MORN repeat containing 5 MORN5 C9orf113, C9orf18, FLJ46909 Yes No Ensembl:ENSG00000185681, GenAtlas:C9orf18, GeneCard:C9orf18, GeneCard:MORN5, HGNC:HGNC:17841, ModBase:Q5VZ52, NCBI Gene:254956, RefSeq DNA:NT_008470, RefSeq Protein:NP_940871, RefSeq RNA:NM_198469, UniProtKB:Q5VZ52 No chr9 124922190 124962368 122159661 122200088 +PA30907 4342 HGNC:7199 ENSG00000172680 MOS proto-oncogene, serine/threonine kinase MOS v-mos Moloney murine sarcoma viral oncogene homolog Yes No Comparative Toxicogenomics Database:4342, Ensembl:ENSG00000172680, GenAtlas:MOS, GeneCard:MOS, HGNC:HGNC:7199, HumanCyc Gene:HS10553, ModBase:P00540, NCBI Gene:4342, OMIM:190060, RefSeq DNA:NT_008183, RefSeq Protein:NP_005363, RefSeq RNA:NM_005372, UCSC Genome Browser:NM_005372, UniProtKB:P00540 No chr8 57025501 57026541 56112942 56113982 +PA142672259 730094 HGNC:27087 ENSG00000185716 modulator of smoothened MOSMO Attenuator of Hedgehog, chromosome 16 open reading frame 52 ATTHOG, BC030336, C16orf52 Yes No Ensembl:ENSG00000185716, GeneCard:C16orf52, HGNC:HGNC:27087, NCBI Gene:730094, RefSeq DNA:NT_010393, RefSeq Protein:NP_001158051, RefSeq RNA:NM_001164579, RefSeq RNA:NR_024104 No chr16 22019456 22095975 22008135 22084654 +PA134956517 56180 HGNC:25235 ENSG00000101928 motile sperm domain containing 1 MOSPD1 dJ473B4 Yes No Comparative Toxicogenomics Database:56180, Ensembl:ENSG00000101928, GeneCard:MOSPD1, HGNC:HGNC:25235, HumanCyc Gene:HS02319, ModBase:Q9UJG1, NCBI Gene:56180, OMIM:300674, RefSeq DNA:NT_011786, RefSeq Protein:NP_062456, RefSeq RNA:NM_019556, UniProtKB:Q9UJG1 No chrX 134021656 134049314 134887626 134915344 +PA134898878 158747 HGNC:28381 ENSG00000130150 motile sperm domain containing 2 MOSPD2 MGC26706 Yes No Ensembl:ENSG00000130150, GeneCard:MOSPD2, HGNC:HGNC:28381, HumanCyc Gene:HS05343, ModBase:Q8NHP6, NCBI Gene:158747, RefSeq DNA:NG_017159, RefSeq DNA:NT_167197, RefSeq Protein:NP_001170946, RefSeq Protein:NP_689794, RefSeq RNA:NM_001177475, RefSeq RNA:NM_152581, UniProtKB:Q8NHP6 No chrX 14891527 14940288 14873405 14922166 +PA134865874 64598 HGNC:25078 ENSG00000106330 motile sperm domain containing 3 MOSPD3 CDS3, NET30 Yes No Comparative Toxicogenomics Database:64598, Ensembl:ENSG00000106330, GeneCard:MOSPD3, HGNC:HGNC:25078, HumanCyc Gene:HS02889, ModBase:O75425, NCBI Gene:64598, OMIM:609125, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001035186, RefSeq Protein:NP_001035187, RefSeq Protein:NP_001035188, RefSeq Protein:NP_076438, RefSeq RNA:NM_001040097, RefSeq RNA:NM_001040098, RefSeq RNA:NM_001040099, RefSeq RNA:NM_023948, UniProtKB:C9JE89, UniProtKB:O75425 No chr7 100209725 100213003 100612102 100615380 +PA30908 4343 HGNC:7200 ENSG00000155363 Mov10 RNA helicase MOV10 """Mov10 RISC complex RNA helicase"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"", ""functional spliceosome-associated protein 113""" MGC2948, fSAP113, gb110 Yes Yes Ensembl:ENSG00000155363, GenAtlas:MOV10, GeneCard:MOV10, HGNC:HGNC:7200, HumanCyc Gene:HS08045, ModBase:Q9HCE1, NCBI Gene:4343, OMIM:610742, RefSeq DNA:NT_032977, RefSeq Protein:NP_001123551, RefSeq Protein:NP_066014, RefSeq RNA:NM_001130079, RefSeq RNA:NM_020963, UCSC Genome Browser:NM_020963, UniProtKB:Q9HCE1 No chr1 113217048 113243368 112674312 112702377 +PA30909 54456 HGNC:7201 ENSG00000073146 Mov10 like RNA helicase 1 MOV10L1 """Mov10 RISC complex RNA helicase like 1"", ""Mov10 like RISC complex RNA helicase 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"", ""cardiac helicase activated by MEF2C protein""" CHAMP, DJ402G11.8, DKFZp434B0717 Yes No Ensembl:ENSG00000073146, GenAtlas:MOV10L1, GeneCard:MOV10L1, HGNC:HGNC:7201, HumanCyc Gene:HS01097, ModBase:Q9BXT6, NCBI Gene:54456, OMIM:605794, RefSeq DNA:NT_011526, RefSeq Protein:NP_001157576, RefSeq Protein:NP_001157577, RefSeq Protein:NP_001157578, RefSeq Protein:NP_061868, RefSeq RNA:NM_001164104, RefSeq RNA:NM_001164105, RefSeq RNA:NM_001164106, RefSeq RNA:NM_018995, UCSC Genome Browser:NM_018995, UniProtKB:A7E211, UniProtKB:A8MXC6, UniProtKB:B7Z7R1, UniProtKB:Q9BXT6 No chr22 50528435 50600119 50090006 50161705 +PA134979178 26002 HGNC:21063 ENSG00000079931 monooxygenase DBH like 1 MOXD1 monooxygenase, DBH-like 1 DKFZP564G202, MOX, dJ248E1.1 Yes No Ensembl:ENSG00000079931, GeneCard:MOXD1, HGNC:HGNC:21063, HumanCyc Gene:HS01341, ModBase:Q6UVY6, NCBI Gene:26002, OMIM:609000, RefSeq DNA:NT_025741, RefSeq Protein:NP_056344, RefSeq RNA:NM_015529, UniProtKB:Q6UVY6 No chr6 132617194 132722664 132296055 132401534 +PA134940737 51660 HGNC:21606 ENSG00000060762 mitochondrial pyruvate carrier 1 MPC1 BRP44L, CGI-129, SLC54A1, dJ68L15.3 Yes No Ensembl:ENSG00000060762, GeneCard:BRP44L, HGNC:HGNC:21606, HumanCyc Gene:HS00751, NCBI Gene:51660, RefSeq DNA:NT_025741, RefSeq Protein:NP_057182, RefSeq RNA:NM_016098, UniProtKB:Q9Y5U8 No chr6 166778407 166796501 166364919 166383013 +PA166049117 347411 HGNC:44205 ENSG00000238205 mitochondrial pyruvate carrier 1 like MPC1L mitochondrial pyruvate carrier 1-like SLC54A3 Yes No Ensembl:ENSG00000238205, HGNC:HGNC:44205, NCBI Gene:347411 No chrX 40482818 40483388 40623566 40624139 +PA142672547 25874 HGNC:24515 ENSG00000143158 mitochondrial pyruvate carrier 2 MPC2 BRP44, DKFZP564B167, SLC54A2 Yes No Comparative Toxicogenomics Database:25874, Ensembl:ENSG00000143158, GeneCard:BRP44, HGNC:HGNC:24515, HumanCyc Gene:HS06997, NCBI Gene:25874, RefSeq DNA:NT_004487, RefSeq Protein:NP_001137146, RefSeq Protein:NP_056230, RefSeq RNA:NM_001143674, RefSeq RNA:NM_015415, RefSeq RNA:NR_026550, UniProtKB:O95563 No chr1 167885913 167906307 167916675 167937069 +PA30913 9526 HGNC:7207 ENSG00000129255 mannose-P-dolichol utilization defect 1 MPDU1 CDGIf, Lec35, PQLC5, SL15, SLC66A5 Yes No Comparative Toxicogenomics Database:9526, Ensembl:ENSG00000129255, GenAtlas:MPDU1, GeneCard:MPDU1, HGNC:HGNC:7207, HumanCyc Gene:HS05263, ModBase:O75352, NCBI Gene:9526, OMIM:604041, OMIM:609180, RefSeq DNA:NG_009204, RefSeq DNA:NT_010718, RefSeq Protein:NP_004861, RefSeq RNA:NM_004870, RefSeq RNA:NR_024603, UCSC Genome Browser:NM_004870, UniProtKB:O75352 No chr17 7486965 7491530 7583647 7588212 +PA30914 8777 HGNC:7208 ENSG00000107186 multiple PDZ domain crumbs cell polarity complex component MPDZ multiple PDZ domain protein MUPP1 Yes No Comparative Toxicogenomics Database:8777, Ensembl:ENSG00000107186, GenAtlas:MPDZ, GeneCard:MPDZ, HGNC:HGNC:7208, HumanCyc Gene:HS02978, ModBase:Q5JUC4, NCBI Gene:8777, OMIM:603785, RefSeq DNA:NT_008413, RefSeq Protein:NP_003820, RefSeq RNA:NM_003829, UCSC Genome Browser:NM_003829, UniProtKB:Q4LE30 No chr9 13105700 13279660 13105296 13279687 +PA164723088 219972 HGNC:29619 ENSG00000197629 macrophage expressed 1 MPEG1 macrophage expressed gene 1 MPG1 Yes No Ensembl:ENSG00000197629, GeneCard:MPEG1, HGNC:HGNC:29619, NCBI Gene:219972, OMIM:610390, RefSeq DNA:NT_167190, RefSeq Protein:NP_001034485, RefSeq RNA:NM_001039396, UniProtKB:Q2M385 No chr11 58975983 58980494 59208510 59213021 +PA30917 4350 HGNC:7211 ENSG00000103152 N-methylpurine DNA glycosylase MPG N-methylpurine-DNA glycosylase, alkyladenine DNA glycosylase MDG Yes No Comparative Toxicogenomics Database:4350, Ensembl:ENSG00000103152, GenAtlas:MPG, GeneCard:MPG, HGNC:HGNC:7211, HumanCyc Gene:HS02461, ModBase:P29372, NCBI Gene:4350, OMIM:156565, RefSeq DNA:NT_010393, RefSeq Protein:NP_001015052, RefSeq Protein:NP_001015054, RefSeq Protein:NP_002425, RefSeq RNA:NM_001015052, RefSeq RNA:NM_001015054, RefSeq RNA:NM_002434, UCSC Genome Browser:NM_002434, UniProtKB:P29372, UniProtKB:Q1W6H1, UniProtKB:Q5J9I4 No chr16 127018 135850 77019 85851 +PA30919 10199 HGNC:7213 ENSG00000124383 M-phase phosphoprotein 10 MPHOSPH10 """M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)"", ""U3 small nucleolar ribonucleoprotein"", ""protein phosphatase 1, regulatory subunit 106""" CT90, MPP10, MPP10P, PPP1R106 Yes No Comparative Toxicogenomics Database:10199, Ensembl:ENSG00000124383, GenAtlas:MPHOSPH10, GeneCard:MPHOSPH10, HGNC:HGNC:7213, HumanCyc Gene:HS04765, ModBase:O00566, NCBI Gene:10199, OMIM:605503, RefSeq DNA:NT_022184, RefSeq Protein:NP_005782, RefSeq RNA:NM_005791, UCSC Genome Browser:NM_005791, UniProtKB:B3KPV5, UniProtKB:O00566 No chr2 71357444 71377232 71130314 71150102 +PA30920 10200 HGNC:7214 ENSG00000135698 M-phase phosphoprotein 6 MPHOSPH6 MPP6 Yes No Comparative Toxicogenomics Database:10200, Ensembl:ENSG00000135698, GenAtlas:MPHOSPH6, GeneCard:MPHOSPH6, HGNC:HGNC:7214, HumanCyc Gene:HS06051, NCBI Gene:10200, OMIM:605500, RefSeq DNA:NT_010498, RefSeq Protein:NP_005783, RefSeq RNA:NM_005792, UCSC Genome Browser:NM_005792, UniProtKB:Q99547 No chr16 82181767 82203829 82148162 82170224 +PA162396090 54737 HGNC:29810 ENSG00000196199 M-phase phosphoprotein 8 MPHOSPH8 HSMPP8, mpp8 Yes No Ensembl:ENSG00000196199, GeneCard:MPHOSPH8, HGNC:HGNC:29810, ModBase:Q99549, NCBI Gene:54737, OMIM:611626, RefSeq DNA:NT_024524, RefSeq Protein:NP_059990, RefSeq RNA:NM_017520, UniProtKB:Q99549 No chr13 20207787 20247599 19633647 19673459 +PA30921 10198 HGNC:7215 ENSG00000051825 M-phase phosphoprotein 9 MPHOSPH9 MPP9 Yes No Comparative Toxicogenomics Database:10198, Ensembl:ENSG00000051825, GenAtlas:MPHOSPH9, GeneCard:MPHOSPH9, HGNC:HGNC:7215, HumanCyc Gene:HS00647, ModBase:Q99550, NCBI Gene:10198, OMIM:605501, RefSeq DNA:NT_009755, RefSeq Protein:NP_073619, RefSeq RNA:NM_022782, UCSC Genome Browser:NM_022782, UniProtKB:Q99550 No chr12 123640943 123717785 123152324 123244014 +PA30922 4351 HGNC:7216 ENSG00000178802 mannose phosphate isomerase MPI mannose-6-phosphate isomerase Yes No Comparative Toxicogenomics Database:4351, Ensembl:ENSG00000178802, GenAtlas:MPI, GeneCard:MPI, HGNC:HGNC:7216, HumanCyc Gene:HS11317, ModBase:P34949, NCBI Gene:4351, OMIM:154550, OMIM:602579, RefSeq DNA:NG_008921, RefSeq DNA:NT_010194, RefSeq Protein:NP_002426, RefSeq RNA:NM_002435, UCSC Genome Browser:NM_002435, UniProtKB:P34949 No chr15 75182377 75190581 74890011 74899457 +PA25926 80739 HGNC:13937 ENSG00000204420, ENSG00000206396, ENSG00000224393, ENSG00000230060, ENSG00000231003, ENSG00000237459 megakaryocyte and platelet inhibitory receptor G6b MPIG6B chromosome 6 open reading frame 25 C6orf25, G6b, G6b-B, NG31 Yes No Ensembl:ENSG00000204420, Ensembl:ENSG00000206396, Ensembl:ENSG00000224393, Ensembl:ENSG00000230060, Ensembl:ENSG00000231003, Ensembl:ENSG00000237459, GenAtlas:C6orf25, GeneCard:C6orf25, HGNC:HGNC:13937, HumanCyc Gene:HS12361, ModBase:Q96A86, NCBI Gene:80739, OMIM:606520, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_079536, RefSeq Protein:NP_612116, RefSeq Protein:NP_612117, RefSeq Protein:NP_612118, RefSeq Protein:NP_612119, RefSeq Protein:NP_612121, RefSeq RNA:NM_025260, RefSeq RNA:NM_138272, RefSeq RNA:NM_138273, RefSeq RNA:NM_138274, RefSeq RNA:NM_138275, RefSeq RNA:NM_138277, UCSC Genome Browser:NM_025260, UniProtKB:B0V023, UniProtKB:O95866 No chr6 31691121 31694487 31720557 31726710 +PA30923 4352 HGNC:7217 ENSG00000117400 MPL proto-oncogene, thrombopoietin receptor MPL myeloproliferative leukemia virus oncogene CD110, THPOR, TPOR Yes No Comparative Toxicogenomics Database:4352, Ensembl:ENSG00000117400, GenAtlas:MPL, GeneCard:MPL, HGNC:HGNC:7217, HumanCyc Gene:HS04126, ModBase:P40238, NCBI Gene:4352, OMIM:159530, OMIM:187950, OMIM:604498, RefSeq DNA:NG_007525, RefSeq DNA:NT_032977, RefSeq Protein:NP_005364, RefSeq RNA:NM_005373, UCSC Genome Browser:NM_005373, UniProtKB:P40238 No chr1 43803475 43820135 43336875 43354464 +PA25943 136647 HGNC:16002 ENSG00000168303 M-phase specific PLK1 interacting protein MPLKIP non-photosensitive 1, tricothiodystrophy C7orf11, ORF20, TTDN1 Yes No Comparative Toxicogenomics Database:136647, Ensembl:ENSG00000168303, GenAtlas:C7orf11, GeneCard:C7orf11, HGNC:HGNC:16002, HumanCyc Gene:HS15659, ModBase:Q8TAP9, NCBI Gene:136647, OMIM:234050, OMIM:609188, RefSeq DNA:NG_016989, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_619646, RefSeq RNA:NM_138701, UCSC Genome Browser:NM_138701, UniProtKB:A4D1W6, UniProtKB:Q8TAP9 No chr7 40172342 40174251 40132743 40134652 +PA162396091 84954 HGNC:25934 ENSG00000008382 MPN domain containing MPND FLJ14981 Yes No Ensembl:ENSG00000008382, GeneCard:MPND, HGNC:HGNC:25934, HumanCyc Gene:HS12030, ModBase:Q8N594, NCBI Gene:84954, RefSeq DNA:NT_011255, RefSeq Protein:NP_001153318, RefSeq Protein:NP_116257, RefSeq RNA:NM_001159846, RefSeq RNA:NM_032868, UniProtKB:Q8N594 No chr19 4343524 4360083 4343527 4360086 +PA243 4353 HGNC:7218 ENSG00000005381 myeloperoxidase MPO Yes Yes Comparative Toxicogenomics Database:4353, Ensembl:ENSG00000005381, GenAtlas:MPO, GeneCard:MPO, HGNC:HGNC:7218, HumanCyc Gene:HS00140, ModBase:P05164, NCBI Gene:4353, OMIM:104300, OMIM:254600, OMIM:606989, RefSeq DNA:NG_009629, RefSeq DNA:NT_010783, RefSeq Protein:NP_000241, RefSeq RNA:NM_000250, UCSC Genome Browser:NM_000250, UniProtKB:P05164 No chr17 56347217 56358296 58269856 58280935 +PA30924 4354 HGNC:7219 ENSG00000130830 MAGUK p55 scaffold protein 1 MPP1 """membrane palmitoylated protein 1"", ""membrane protein, palmitoylated 1, 55kDa""" DXS552E, PEMP Yes No Comparative Toxicogenomics Database:4354, Ensembl:ENSG00000130830, GenAtlas:MPP1, GeneCard:MPP1, HGNC:HGNC:7219, HumanCyc Gene:HS05454, ModBase:Q00013, NCBI Gene:4354, OMIM:305360, RefSeq DNA:NG_015873, RefSeq DNA:NT_167198, RefSeq Protein:NP_001159932, RefSeq Protein:NP_001159933, RefSeq Protein:NP_001159934, RefSeq Protein:NP_002427, RefSeq RNA:NM_001166460, RefSeq RNA:NM_001166461, RefSeq RNA:NM_001166462, RefSeq RNA:NM_002436, UCSC Genome Browser:NM_002436, UniProtKB:B4DZV5, UniProtKB:B4E325, UniProtKB:Q00013, UniProtKB:Q2TSB6, UniProtKB:Q5J7V5 No chrX 154006959 154033802 154778684 154805527 +PA30925 4355 HGNC:7220 ENSG00000108852 MAGUK p55 scaffold protein 2 MPP2 """MAGUK p55 subfamily member 2"", ""discs large, homolog 2"", ""membrane palmitoylated protein 2"", ""membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)""" DKFZp761D0712, DLG2 Yes No Ensembl:ENSG00000108852, GenAtlas:MPP2, GeneCard:MPP2, HGNC:HGNC:7220, HumanCyc Gene:HS03172, ModBase:Q14168, NCBI Gene:4355, OMIM:600723, RefSeq DNA:NT_010783, RefSeq Protein:NP_005365, RefSeq RNA:NM_005374, UCSC Genome Browser:NM_005374, UniProtKB:Q14168 No chr17 41952727 41987079 43875357 43909711 +PA30926 4356 HGNC:7221 ENSG00000161647 MAGUK p55 scaffold protein 3 MPP3 """MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane palmitoylated protein 3"", ""membrane protein palmitoylated 3"", ""membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)""" DLG3 Yes No Ensembl:ENSG00000161647, GenAtlas:MPP3, GeneCard:MPP3, HGNC:HGNC:7221, HumanCyc Gene:HS08604, ModBase:Q13368, NCBI Gene:4356, OMIM:601114, RefSeq DNA:NT_010783, RefSeq Protein:NP_001923, RefSeq RNA:NM_001932, RefSeq RNA:NR_003562, UCSC Genome Browser:NM_001932, UniProtKB:Q13368 No chr17 41878167 41910547 43800799 43833192 +PA30927 58538 HGNC:13680 ENSG00000082126 MAGUK p55 scaffold protein 4 MPP4 """membrane palmitoylated protein 4"", ""membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)""" DLG6 Yes No Ensembl:ENSG00000082126, GenAtlas:MPP4, GeneCard:MPP4, HGNC:HGNC:13680, HumanCyc Gene:HS01412, ModBase:Q96JB8, NCBI Gene:58538, OMIM:606575, RefSeq DNA:NG_012654, RefSeq DNA:NT_005403, RefSeq Protein:NP_149055, RefSeq RNA:NM_033066, UCSC Genome Browser:NM_033066, UniProtKB:Q96JB8 No chr2 202509597 202563467 201644874 201700263 +PA134985345 143098 HGNC:26542 ENSG00000150054 MAGUK p55 scaffold protein 7 MPP7 """membrane palmitoylated protein 7"", ""membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)""" FLJ32798 Yes No Ensembl:ENSG00000150054, GeneCard:MPP7, HGNC:HGNC:26542, HumanCyc Gene:HS07656, ModBase:Q5T2T1, NCBI Gene:143098, OMIM:610973, RefSeq DNA:NT_008705, RefSeq Protein:NP_775767, RefSeq RNA:NM_173496, UniProtKB:B3KQ45, UniProtKB:Q5T2T1 No chr10 28339922 28591953 28050993 28303066 +PA134913534 65258 HGNC:15988 ENSG00000154889 metallophosphoesterase 1 MPPE1 post-GPI attachment to proteins 5 Cdc1, PGAP5 Yes No Ensembl:ENSG00000154889, GeneCard:MPPE1, HGNC:HGNC:15988, HumanCyc Gene:HS08014, ModBase:Q9BU58, NCBI Gene:65258, OMIM:611900, RefSeq DNA:NT_010859, RefSeq Protein:NP_001229833, RefSeq Protein:NP_075563, RefSeq RNA:NM_001242904, RefSeq RNA:NM_023075, RefSeq RNA:NR_040241, RefSeq RNA:NR_040242, RefSeq RNA:NR_040243, UniProtKB:Q53F39 No chr18 11883470 11908796 11883471 11908797 +PA25880 758 HGNC:1306 ENSG00000186732 metallophosphoesterase domain containing 1 MPPED1 239AB, C22orf1, FAM1A Yes No Comparative Toxicogenomics Database:758, Ensembl:ENSG00000186732, GenAtlas:MPPED1, GeneCard:MPPED1, HGNC:HGNC:1306, ModBase:O15442, NCBI Gene:758, OMIM:602112, RefSeq DNA:NT_011520, RefSeq Protein:NP_001037835, RefSeq RNA:NM_001044370, UCSC Genome Browser:NM_001585, UniProtKB:A8K159, UniProtKB:O15442 No chr22 43807202 43903688 43412014 43507848 +PA25499 744 HGNC:1180 ENSG00000066382 metallophosphoesterase domain containing 2 MPPED2 239FB, C11orf8, D11S302E, FAM1B, Hs.46638, dJ1024C24.1, dJ873F21.1 Yes No Ensembl:ENSG00000066382, GenAtlas:MPPED2, GeneCard:MPPED2, HGNC:HGNC:1180, HumanCyc Gene:HS00876, ModBase:Q15777, NCBI Gene:744, OMIM:600911, RefSeq DNA:NT_009237, RefSeq Protein:NP_001138871, RefSeq Protein:NP_001575, RefSeq RNA:NM_001145399, RefSeq RNA:NM_001584, UCSC Genome Browser:NM_001584, UniProtKB:Q15777, UniProtKB:Q59GE6 No chr11 30406040 30608260 30384493 30586713 +PA162396092 23164 HGNC:30321 ENSG00000133030 myosin phosphatase Rho interacting protein MPRIP Rho interacting protein 3 M-RIP, RHOIP3, p116Rip Yes No Ensembl:ENSG00000133030, GeneCard:MPRIP, HGNC:HGNC:30321, ModBase:Q6WCQ1, NCBI Gene:23164, OMIM:612935, RefSeq DNA:NT_010718, RefSeq Protein:NP_055949, RefSeq Protein:NP_958431, RefSeq RNA:NM_015134, RefSeq RNA:NM_201274, UniProtKB:Q6WCQ1, UniProtKB:Q96EE5 No chr17 16945790 17095962 17042438 17192648 +PA30928 4357 HGNC:7223 ENSG00000128309 mercaptopyruvate sulfurtransferase MPST human liver rhodanese, tRNA thiouridin modification protein 1 MST, TST2, TUM1 Yes No Comparative Toxicogenomics Database:4357, Ensembl:ENSG00000128309, GenAtlas:MPST, GeneCard:MPST, HGNC:HGNC:7223, HumanCyc Gene:HS05177, ModBase:P25325, NCBI Gene:4357, OMIM:602496, RefSeq DNA:NT_011520, RefSeq Protein:NP_001013454, RefSeq Protein:NP_001123989, RefSeq Protein:NP_066949, RefSeq RNA:NM_001013436, RefSeq RNA:NM_001130517, RefSeq RNA:NM_021126, RefSeq RNA:NR_024038, UCSC Genome Browser:NM_021126, UniProtKB:P25325, UniProtKB:Q6FHN9 No chr22 37415683 37425863 37019642 37029822 +PA30929 4358 HGNC:7224 ENSG00000115204 mitochondrial inner membrane protein MPV17 MPV17 MpV17 mitochondrial inner membrane protein, glomerulosclerosis SYM1 Yes No Comparative Toxicogenomics Database:4358, Ensembl:ENSG00000115204, GenAtlas:MPV17, GeneCard:MPV17, HGNC:HGNC:7224, HumanCyc Gene:HS03846, NCBI Gene:4358, OMIM:137960, OMIM:251880, RefSeq DNA:NG_008075, RefSeq DNA:NT_022184, RefSeq Protein:NP_002428, RefSeq RNA:NM_002437, UCSC Genome Browser:NM_002437, UniProtKB:P39210 No chr2 27532360 27545969 27309492 27323102 +PA145007960 255027 HGNC:26827 ENSG00000156968 MPV17 mitochondrial inner membrane protein like MPV17L Human Mpv17-like protein, MPV17 mitochondrial membrane protein-like FLJ39599, M-LPH, M-LPH1, M-LPH2, MLPH1, MLPH2, MPV17L1 Yes No Comparative Toxicogenomics Database:255027, Ensembl:ENSG00000156968, GeneCard:MPV17L, HGNC:HGNC:26827, HumanCyc Gene:HS14645, NCBI Gene:255027, RefSeq DNA:NT_010393, RefSeq Protein:NP_001121895, RefSeq Protein:NP_776164, RefSeq RNA:NM_001128423, RefSeq RNA:NM_173803, UniProtKB:Q2QL34 No chr16 15489611 15503543 15395569 15409686 +PA164723095 84769 HGNC:28177 ENSG00000254858 MPV17 mitochondrial inner membrane protein like 2 MPV17L2 MPV17 mitochondrial membrane protein-like 2 FKSG24, MGC12972 Yes No Ensembl:ENSG00000254858, GeneCard:MPV17L2, HGNC:HGNC:28177, HumanCyc Gene:HS13231, NCBI Gene:84769, RefSeq DNA:NT_011295, RefSeq Protein:NP_116072, RefSeq RNA:NM_032683, UniProtKB:Q567V2 No chr19 18303986 18307552 18193230 18196742 +PA30930 4359 HGNC:7225 ENSG00000158887 myelin protein zero MPZ CMT1, CMT1B, CMT2I, CMT2J, HMSNIB, P0 Yes Yes Comparative Toxicogenomics Database:4359, Ensembl:ENSG00000158887, GenAtlas:MPZ, GeneCard:MPZ, HGNC:HGNC:7225, HumanCyc Gene:HS08344, ModBase:P25189, NCBI Gene:4359, OMIM:118200, OMIM:145900, OMIM:159440, OMIM:180800, OMIM:605253, OMIM:607677, OMIM:607736, OMIM:607791, RefSeq DNA:NG_008055, RefSeq DNA:NT_004487, RefSeq Protein:NP_000521, RefSeq RNA:NM_000530, UCSC Genome Browser:NM_000530, UniProtKB:P25189 No chr1 161274525 161279762 161303593 161309972 +PA30931 9019 HGNC:7226 ENSG00000197965 myelin protein zero like 1 MPZL1 myelin protein zero-like 1 FLJ21047, PZR Yes No Comparative Toxicogenomics Database:9019, Ensembl:ENSG00000197965, GenAtlas:MPZL1, GeneCard:MPZL1, HGNC:HGNC:7226, HumanCyc Gene:HS06991, ModBase:O95297, NCBI Gene:9019, OMIM:604376, RefSeq DNA:NT_004487, RefSeq Protein:NP_001139663, RefSeq Protein:NP_003944, RefSeq Protein:NP_078845, RefSeq RNA:NM_001146191, RefSeq RNA:NM_003953, RefSeq RNA:NM_024569, UCSC Genome Browser:NM_003953, UniProtKB:A8K5D4, UniProtKB:B2REC0, UniProtKB:O95297 No chr1 167691187 167761156 167721950 167791919 +PA162396145 10205 HGNC:3496 ENSG00000149573 myelin protein zero like 2 MPZL2 myelin protein zero-like 2 EVA, EVA1 Yes No Ensembl:ENSG00000149573, GeneCard:MPZL2, HGNC:HGNC:3496, HumanCyc Gene:HS07628, ModBase:O60487, NCBI Gene:10205, OMIM:604873, RefSeq DNA:NT_033899, RefSeq Protein:NP_005788, RefSeq Protein:NP_658911, RefSeq RNA:NM_005797, RefSeq RNA:NM_144765, UniProtKB:O60487 No chr11 118124131 118135251 118253416 118264536 +PA162396160 196264 HGNC:27279 ENSG00000160588 myelin protein zero like 3 MPZL3 myelin protein zero-like 3 Yes No Ensembl:ENSG00000160588, GeneCard:MPZL3, HGNC:HGNC:27279, ModBase:Q6UWV2, NCBI Gene:196264, OMIM:611707, RefSeq DNA:NT_033899, RefSeq Protein:NP_938016, RefSeq RNA:NM_198275, UniProtKB:A8K025, UniProtKB:Q6UWV2 No chr11 118097405 118124135 118226690 118252368 +PA29309 3140 HGNC:4975 ENSG00000153029 major histocompatibility complex, class I-related MR1 HLALS Yes No Comparative Toxicogenomics Database:3140, Ensembl:ENSG00000153029, GeneCard:MR1, HGNC:HGNC:4975, HumanCyc Gene:HS07873, ModBase:Q9TQK3, NCBI Gene:3140, OMIM:600764, RefSeq DNA:NT_004487, RefSeq Protein:NP_001181928, RefSeq Protein:NP_001181929, RefSeq Protein:NP_001181964, RefSeq Protein:NP_001522, RefSeq RNA:NM_001194999, RefSeq RNA:NM_001195000, RefSeq RNA:NM_001195035, RefSeq RNA:NM_001531, UCSC Genome Browser:NM_001531, UniProtKB:Q95460 No chr1 181002561 181031074 181033379 181061938 +PA25856 56246 HGNC:1304 ENSG00000170262 melanocortin 2 receptor accessory protein MRAP B27, C21orf61, FALP, MRAP1 Yes No Comparative Toxicogenomics Database:56246, Ensembl:ENSG00000170262, GenAtlas:MRAP, GeneCard:MRAP, HGNC:HGNC:1304, HumanCyc Gene:HS10090, NCBI Gene:56246, OMIM:607398, OMIM:609196, RefSeq DNA:NG_016234, RefSeq DNA:NT_011512, RefSeq Protein:NP_848932, RefSeq Protein:NP_996781, RefSeq RNA:NM_178817, RefSeq RNA:NM_206898, UCSC Genome Browser:NM_178817, UniProtKB:Q8TCY5 No chr21 33664124 33687095 32291813 32314784 +PA162396161 112609 HGNC:21232 ENSG00000135324 melanocortin 2 receptor accessory protein 2 MRAP2 C6orf117, bA51G5.2 Yes No Ensembl:ENSG00000135324, GeneCard:MRAP2, HGNC:HGNC:21232, HumanCyc Gene:HS13574, ModBase:Q96G30, NCBI Gene:112609, RefSeq DNA:NT_007299, RefSeq Protein:NP_612418, RefSeq RNA:NM_138409, UniProtKB:Q96G30 No chr6 84732746 84800606 84032621 84146278 +PA30932 22808 HGNC:7227 ENSG00000158186 muscle RAS oncogene homolog MRAS M-RAs, R-RAS3, RRAS3 Yes No Comparative Toxicogenomics Database:22808, Ensembl:ENSG00000158186, GenAtlas:MRAS, GeneCard:MRAS, HGNC:HGNC:7227, HumanCyc Gene:HS08273, ModBase:O14807, NCBI Gene:22808, OMIM:608435, RefSeq DNA:NT_005612, RefSeq Protein:NP_001078518, RefSeq Protein:NP_036351, RefSeq RNA:NM_001085049, RefSeq RNA:NM_012219, UCSC Genome Browser:NM_012219, UniProtKB:O14807, UniProtKB:Q6FGP0 No chr3 138066490 138124377 138347648 138405535 +PA30933 4360 HGNC:7228 ENSG00000260314 mannose receptor C-type 1 MRC1 """macrophage mannose receptor"", ""mannose receptor, C type 1""" CD206, CLEC13D, CLEC13DL, MRC1L1, bA541I19.1 Yes No Comparative Toxicogenomics Database:4360, Ensembl:ENSG00000260314, GenAtlas:MRC1, GeneCard:MRC1, HGNC:HGNC:7228, HumanCyc Gene:HS04410, ModBase:P22897, NCBI Gene:4360, OMIM:153618, RefSeq DNA:NT_008705, RefSeq Protein:NP_002429, RefSeq RNA:NM_002438, UCSC Genome Browser:NM_002438, UniProtKB:P22897 No chr10 18098332 18200091 17809343 17911162 +PA134988161 9902 HGNC:16875 ENSG00000011028 mannose receptor C-type 2 MRC2 """C-type lectin domain family 13 member E"", ""endocytic receptor 180"", ""mannose receptor C type 2"", ""mannose receptor, C type 2""" CD280, CLEC13E, ENDO180, KIAA0709 Yes No Comparative Toxicogenomics Database:9902, Ensembl:ENSG00000011028, GeneCard:MRC2, HGNC:HGNC:16875, HumanCyc Gene:HS00299, ModBase:Q9UBG0, NCBI Gene:9902, OMIM:612264, RefSeq DNA:NT_010783, RefSeq Protein:NP_006030, RefSeq RNA:NM_006039, UniProtKB:Q9UBG0 No chr17 60704762 60770962 62627401 62693601 +PA30934 4361 HGNC:7230 ENSG00000020922 MRE11 homolog, double strand break repair nuclease MRE11 AT-like disease, MRE11, MRE11 meiotic recombination 11 homolog A (S. cerevisiae) ATLD, MRE11A Yes No Comparative Toxicogenomics Database:4361, Ensembl:ENSG00000020922, GenAtlas:MRE11A, GeneCard:MRE11A, HGNC:HGNC:7230, HumanCyc Gene:HS00405, ModBase:P49959, NCBI Gene:4361, OMIM:600814, OMIM:604391, RefSeq DNA:NG_007261, RefSeq DNA:NT_167190, RefSeq Protein:NP_005581, RefSeq Protein:NP_005582, RefSeq RNA:NM_005590, RefSeq RNA:NM_005591, UCSC Genome Browser:NM_005590, UniProtKB:P49959, UniProtKB:Q05D78 No chr11 94150466 94227040 94415570 94512701 +PA162396174 55686 HGNC:25478 ENSG00000118242 melanoregulin MREG DSU, FLJ10116, WDT2 Yes No Ensembl:ENSG00000118242, GeneCard:MREG, HGNC:HGNC:25478, HumanCyc Gene:HS12909, NCBI Gene:55686, OMIM:609207, RefSeq DNA:NT_005403, RefSeq Protein:NP_060470, RefSeq RNA:NM_018000, UniProtKB:Q8N565 No chr2 216807314 216878346 215939097 216013623 +PA142671332 93621 HGNC:24549 ENSG00000179010 Morf4 family associated protein 1 MRFAP1 PAM14, PGR1 Yes No Comparative Toxicogenomics Database:93621, Ensembl:ENSG00000179010, GeneCard:MRFAP1, HGNC:HGNC:24549, HumanCyc Gene:HS17176, NCBI Gene:93621, RefSeq DNA:NT_006051, RefSeq Protein:NP_150638, RefSeq RNA:NM_033296, UniProtKB:Q9Y605 No chr4 6641818 6644472 6640091 6642745 +PA142671333 114932 HGNC:28796 ENSG00000178988 Morf4 family associated protein 1 like 1 MRFAP1L1 Morf4 family associated protein 1-like 1 MGC9651 Yes No Ensembl:ENSG00000178988, GeneCard:MRFAP1L1, HGNC:HGNC:28796, HumanCyc Gene:HS11337, NCBI Gene:114932, RefSeq DNA:NT_006051, RefSeq Protein:NP_982287, RefSeq RNA:NM_203462, UniProtKB:Q96HT8 No chr4 6709428 6711606 6707701 6709879 +PA166351970 93622 HGNC:25109 Morf4 family associated protein 1 like 2 MRFAP1L2 Yes No HGNC:HGNC:25109, NCBI Gene:93622 No 0 0 0 0 +PA25736 55257 HGNC:15866 ENSG00000101189 MRG domain binding protein MRGBP MRG/MORF4L binding protein C20orf20, Eaf7, FLJ10914, MRG15BP Yes No Ensembl:ENSG00000101189, GenAtlas:C20orf20, GeneCard:C20orf20, HGNC:HGNC:15866, HumanCyc Gene:HS12441, NCBI Gene:55257, OMIM:611157, RefSeq DNA:NT_011333, RefSeq Protein:NP_060740, RefSeq RNA:NM_018270, UCSC Genome Browser:NM_018270, UniProtKB:A8C4L5, UniProtKB:Q9NV56 No chr20 61427804 61431945 62796405 62801738 +PA134978563 116512 HGNC:29626 ENSG00000172938 MAS related GPR family member D MRGPRD MAS-related GPR, member D mrgD Yes No Ensembl:ENSG00000172938, GeneCard:MRGPRD, HGNC:HGNC:29626, IUPHAR Receptor:152, ModBase:Q8TDS7, NCBI Gene:116512, OMIM:607231, RefSeq DNA:NT_167190, RefSeq Protein:NP_944605, RefSeq RNA:NM_198923, UniProtKB:Q8TDS7 No chr11 68747490 68748455 68980021 68980986 +PA134939296 116534 HGNC:30694 ENSG00000184350 MAS related GPR family member E MRGPRE MAS-related GPR, member E GPR167, mrgE Yes No Comparative Toxicogenomics Database:116534, Ensembl:ENSG00000184350, GeneCard:MRGPRE, HGNC:HGNC:30694, IUPHAR Receptor:153, ModBase:Q86SM8, NCBI Gene:116534, OMIM:607232, RefSeq DNA:NT_009237, RefSeq Protein:NP_001034254, RefSeq RNA:NM_001039165, UniProtKB:Q86SM8 No chr11 3249041 3253616 3227811 3232386 +PA134896544 116535 HGNC:24828 ENSG00000172935 MAS related GPR family member F MRGPRF MAS-related GPR, member F GPR140, GPR168, MGC21621, mrgF Yes No Comparative Toxicogenomics Database:219928, Ensembl:ENSG00000172935, GeneCard:MRGPRF, HGNC:HGNC:24828, ModBase:Q96AM1, NCBI Gene:116535, OMIM:607233, RefSeq DNA:NT_167190, RefSeq Protein:NP_001091985, RefSeq Protein:NP_659452, RefSeq RNA:NM_001098515, RefSeq RNA:NM_145015, UniProtKB:Q96AM1 No chr11 68771862 68780850 69004375 69013382 +PA134953683 386746 HGNC:24829 ENSG00000182170 MAS related GPR family member G MRGPRG MAS-related GPR, member G GPR169, mrgG Yes No Ensembl:ENSG00000182170, GeneCard:MRGPRG, HGNC:HGNC:24829, IUPHAR Receptor:155, NCBI Gene:386746, OMIM:607234, RefSeq DNA:NT_009237, RefSeq Protein:NP_001157849, RefSeq Protein:XP_001126608, RefSeq Protein:XP_001714471, RefSeq Protein:XP_001715116, RefSeq RNA:NM_001164377, RefSeq RNA:XM_001126608, RefSeq RNA:XM_001714419, RefSeq RNA:XM_001715064, UniProtKB:Q86SM5 No chr11 3239174 3240043 3217944 3218813 +PA142672303 283303 HGNC:26691 ENSG00000236301 MRGPRG antisense RNA 1 MRGPRG-AS1 FLJ36102, HSD-40 Yes No Ensembl:ENSG00000236301, GeneCard:C11orf36, HGNC:HGNC:26691, NCBI Gene:283303, RefSeq DNA:NT_009237, RefSeq RNA:NR_027138 No chr11 3239562 3244361 3218332 3223131 +PA142671334 259249 HGNC:17962 ENSG00000170255 MAS related GPR family member X1 MRGPRX1 MAS-related GPR, member X1 MRGX1 Yes No Ensembl:ENSG00000170255, GeneCard:MRGPRX1, HGNC:HGNC:17962, HumanCyc Gene:HS10088, IUPHAR Receptor:156, ModBase:Q96LB2, NCBI Gene:259249, OMIM:607227, RefSeq DNA:NT_009237, RefSeq Protein:NP_671732, RefSeq RNA:NM_147199, UniProtKB:Q96LB2 No chr11 18955360 18956549 18933813 18935002 +PA142671335 117194 HGNC:17983 ENSG00000183695 MAS related GPR family member X2 MRGPRX2 MAS-related GPR, member X2 MRGX2 Yes No Ensembl:ENSG00000183695, GeneCard:MRGPRX2, HGNC:HGNC:17983, IUPHAR Receptor:157, ModBase:Q4QXX6, NCBI Gene:117194, OMIM:607228, RefSeq DNA:NT_009237, RefSeq Protein:NP_473371, RefSeq RNA:NM_054030, UniProtKB:Q96LB1 No chr11 19076002 19082228 19054455 19060681 +PA142671336 117195 HGNC:17980 ENSG00000179826 MAS related GPR family member X3 MRGPRX3 MAS-related GPR, member X3 MRGX3 Yes No Ensembl:ENSG00000179826, GeneCard:MRGPRX3, HGNC:HGNC:17980, HumanCyc Gene:HS11418, IUPHAR Receptor:158, ModBase:Q96LB0, NCBI Gene:117195, OMIM:607229, RefSeq DNA:NT_009237, RefSeq Protein:NP_473372, RefSeq RNA:NM_054031, UniProtKB:Q96LB0 No chr11 18142502 18160027 18120955 18138480 +PA142671337 117196 HGNC:17617 ENSG00000179817 MAS related GPR family member X4 MRGPRX4 MAS-related GPR, member X4 MRGX4 Yes No Ensembl:ENSG00000179817, GeneCard:MRGPRX4, HGNC:HGNC:17617, HumanCyc Gene:HS11415, IUPHAR Receptor:159, ModBase:Q96LA9, NCBI Gene:117196, OMIM:607230, RefSeq DNA:NT_009237, RefSeq Protein:NP_473373, RefSeq RNA:NM_054032, UniProtKB:Q96LA9 No chr11 18194384 18195827 18172837 18174280 +PA164723110 84245 HGNC:28469 ENSG00000037757 methylthioribose-1-phosphate isomerase 1 MRI1 S-methyl-5-thioribose-1-phosphate isomerase 1, mediator of RhoA-dependent invasion, methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) MGC3207, MRDI, MTNA, Ypr118w, mtnA Yes No Ensembl:ENSG00000037757, GeneCard:MRI1, HGNC:HGNC:28469, HumanCyc Gene:HS00525, NCBI Gene:84245, RefSeq DNA:NT_011295, RefSeq Protein:NP_001026897, RefSeq Protein:NP_115661, RefSeq RNA:NM_001031727, RefSeq RNA:NM_032285, UniProtKB:Q9BV20 No chr19 13875328 13885096 13764492 13774282 +PA166181566 100507027 HGNC:48649 ENSG00000227877 myoregulin MRLN Linc-RNA activator of myogenesis, muscle enriched RNA 1, muscle specific 1 LINC00948, Linc-RAM, M1, MLN, MUSER1 Yes No Ensembl:ENSG00000227877, HGNC:HGNC:48649, NCBI Gene:100507027 No 0 0 0 0 +PA142671338 79922 HGNC:26202 ENSG00000278619 mitochondrial rRNA methyltransferase 1 MRM1 mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) FLJ22578 Yes No Ensembl:ENSG00000278619, GeneCard:MRM1, HGNC:HGNC:26202, HumanCyc Gene:HS05266, ModBase:Q6IN84, NCBI Gene:79922, RefSeq DNA:NT_010783, RefSeq Protein:NP_079140, RefSeq RNA:NM_024864, UniProtKB:Q6IN84 No chr17 34958010 34965407 36601581 36634698 +PA28418 29960 HGNC:16352 ENSG00000122687 mitochondrial rRNA methyltransferase 2 MRM2 FtsJ RNA methyltransferase homolog 2 (E. coli), MRM2 RNA methyltransferase homolog (S. cerevisiae), rRNA (uridine-2'-O-)-methyltransferase FJH1, FTSJ2, MRM2, RRMJ2 Yes No Comparative Toxicogenomics Database:29960, Ensembl:ENSG00000122687, GenAtlas:FTSJ2, GeneCard:FTSJ2, HGNC:HGNC:16352, HumanCyc Gene:HS04589, ModBase:Q9UI43, NCBI Gene:29960, OMIM:606906, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_037525, RefSeq RNA:NM_013393, UCSC Genome Browser:NM_013393, UniProtKB:Q9UI43 No chr7 2273830 2281840 2234291 2242198 +PA38341 55178 HGNC:18485 ENSG00000171861 mitochondrial rRNA methyltransferase 3 MRM3 RNA methyltransferase like 1 FLJ10581, HC90, MRM3, RMTL1, RNMTL1 Yes No Ensembl:ENSG00000171861, GenAtlas:RNMTL1, GeneCard:RNMTL1, HGNC:HGNC:18485, HumanCyc Gene:HS10403, ModBase:Q9HC36, NCBI Gene:55178, OMIM:612600, RefSeq DNA:NT_010718, RefSeq Protein:NP_060616, RefSeq RNA:NM_018146, UniProtKB:Q9HC36 No chr17 685513 695741 782329 792509 +PA162380286 51149 HGNC:30817 ENSG00000161010 MRN complex interacting protein MRNIP MRN-interacting protein, chromosome 5 open reading frame 45, truncated calcium binding protein C5orf45, DKFZp686L2452, LOC51149, MGC65027, MGC78537 Yes No Ensembl:ENSG00000161010, GeneCard:C5orf45, HGNC:HGNC:30817, HumanCyc Gene:HS14844, ModBase:Q6NTE8, NCBI Gene:51149, RefSeq DNA:NT_023133, RefSeq Protein:NP_001017987, RefSeq Protein:NP_057259, RefSeq RNA:NM_001017987, RefSeq RNA:NM_016175, UniProtKB:Q6NTE8 No chr5 179263927 179285867 179837266 179858840 +PA134932281 83876 HGNC:24121 ENSG00000134042 maestro MRO B29 protein, beside the Ma29 deletion B29, C18orf3, FLJ30140 Yes No Ensembl:ENSG00000134042, GeneCard:MRO, HGNC:HGNC:24121, HumanCyc Gene:HS13507, ModBase:Q9BYG7, NCBI Gene:83876, OMIM:608080, RefSeq DNA:NT_010966, RefSeq Protein:NP_001120646, RefSeq Protein:NP_001120647, RefSeq Protein:NP_001120648, RefSeq Protein:NP_114145, RefSeq RNA:NM_001127174, RefSeq RNA:NM_001127175, RefSeq RNA:NM_001127176, RefSeq RNA:NM_031939, UniProtKB:Q9BYG7 No chr18 48321490 48351808 50795120 50825413 +PA164720350 727957 HGNC:26958 ENSG00000179832 maestro heat like repeat family member 1 MROH1 maestro heat-like repeat family member 1 HEATR7A, KIAA1833 Yes No Ensembl:ENSG00000179832, GeneCard:HEATR7A, HGNC:HGNC:26958, ModBase:Q8NDA8, NCBI Gene:727957, RefSeq DNA:NT_008046, RefSeq Protein:NP_001092750, RefSeq Protein:NP_001092751, RefSeq Protein:NP_115826, RefSeq RNA:NM_001099280, RefSeq RNA:NM_001099281, RefSeq RNA:NM_032450, UniProtKB:Q8NDA8 No chr8 145202919 145316843 144148016 144261940 +PA164720351 339766 HGNC:27936 ENSG00000185038 maestro heat like repeat family member 2A MROH2A maestro heat-like repeat family member 2A HEATR7B1 Yes Yes Ensembl:ENSG00000185038, GeneCard:HEATR7B1, HGNC:HGNC:27936, NCBI Gene:339766, RefSeq DNA:NT_005120, RefSeq Protein:XP_001721292, RefSeq Protein:XP_291007, RefSeq Protein:XP_944799, RefSeq RNA:XM_001721240, RefSeq RNA:XM_291007, RefSeq RNA:XM_939706, UniProtKB:A6NES4 No chr2 234684325 234742069 233774022 233833423 +PA164720440 133558 HGNC:26857 ENSG00000171495 maestro heat like repeat family member 2B MROH2B maestro heat-like repeat family member 2B, sperm PKA interacting factor DKFZp781F0822, FLJ40243, HEATR7B2, SPIF Yes No Ensembl:ENSG00000171495, GeneCard:HEATR7B2, HGNC:HGNC:26857, HumanCyc Gene:HS15994, NCBI Gene:133558, RefSeq DNA:NT_006576, RefSeq Protein:NP_775760, RefSeq RNA:NM_173489, UniProtKB:B3KXY2, UniProtKB:Q4G0Z6, UniProtKB:Q7Z745 No chr5 40998122 41071444 40998020 41071342 +PA166049097 389690 HGNC:42976 ENSG00000226807 maestro heat like repeat family member 5 (gene/pseudogene) MROH5 maestro heat-like repeat family member 5 FLJ43860 Yes No Ensembl:ENSG00000226807, HGNC:HGNC:42976, NCBI Gene:389690 No chr8 142443929 142517330 141433829 141507230 +PA142672336 642475 HGNC:27814 ENSG00000204839 maestro heat like repeat family member 6 MROH6 maestro heat-like repeat family member 6 C8orf73 Yes No Ensembl:ENSG00000204839, GeneCard:C8orf73, HGNC:HGNC:27814, ModBase:A6NGR9, NCBI Gene:642475, RefSeq DNA:NT_008046, RefSeq Protein:NP_001094348, RefSeq RNA:NM_001100878, UniProtKB:A6NGR9 No chr8 144648362 144654928 143566189 143572758 +PA142672423 374977 HGNC:24802 ENSG00000184313 maestro heat like repeat family member 7 MROH7 maestro heat-like repeat family member 7 C1orf175, FLJ46354, HEATR8 Yes No Ensembl:ENSG00000184313, GeneCard:C1orf175, HGNC:HGNC:24802, NCBI Gene:374977, RefSeq DNA:NT_032977, RefSeq Protein:NP_001034553, RefSeq RNA:NM_001039464, RefSeq RNA:NR_026782, UniProtKB:B7Z7S6, UniProtKB:Q68CQ1 No chr1 55107427 55175939 54641740 54710267 +PA25674 140699 HGNC:16125 ENSG00000101353 maestro heat like repeat family member 8 MROH8 hypothetical protein LOC140699, maestro heat-like repeat family member 8 C20orf131, C20orf132, dJ621N11.3, dJ621N11.4 Yes No Ensembl:ENSG00000101353, GenAtlas:C20orf132, GeneCard:C20orf132, HGNC:HGNC:16125, HumanCyc Gene:HS12452, NCBI Gene:140699, RefSeq DNA:NT_011362, RefSeq Protein:NP_689716, RefSeq Protein:NP_998796, RefSeq Protein:NP_998797, RefSeq RNA:NM_152503, RefSeq RNA:NM_213631, RefSeq RNA:NM_213632, UCSC Genome Browser:NM_152503, UniProtKB:Q0P682, UniProtKB:Q6PF12, UniProtKB:Q9H579 No chr20 35729629 35807974 37101226 37179588 +PA142672447 80133 HGNC:26287 ENSG00000117501 maestro heat like repeat family member 9 MROH9 maestro heat-like repeat family member 9 ARMC11, C1orf129, FLJ23550 Yes No Ensembl:ENSG00000117501, GeneCard:C1orf129, HGNC:HGNC:26287, HumanCyc Gene:HS12897, ModBase:Q5TGP6, NCBI Gene:80133, RefSeq DNA:NT_004487, RefSeq Protein:NP_001157101, RefSeq Protein:NP_079339, RefSeq RNA:NM_001163629, RefSeq RNA:NM_025063, UniProtKB:Q5TGP6 No chr1 170904612 171033906 170935471 171066341 +PA30938 65008 HGNC:14275 ENSG00000169288 mitochondrial ribosomal protein L1 MRPL1 BM022, uL1m Yes No Comparative Toxicogenomics Database:65008, Ensembl:ENSG00000169288, GenAtlas:MRPL1, GeneCard:MRPL1, HGNC:HGNC:14275, HumanCyc Gene:HS09921, ModBase:Q9BYD6, NCBI Gene:65008, OMIM:611821, RefSeq DNA:NT_016354, RefSeq Protein:NP_064621, RefSeq RNA:NM_020236, UCSC Genome Browser:NM_020236, UniProtKB:Q9BYD6 No chr4 78783805 78873944 77861955 77952790 +PA30939 124995 HGNC:14055 ENSG00000159111 mitochondrial ribosomal protein L10 MRPL10 39S ribosomal protein L10, mitochondrial L10MT, MGC17973, MRP-L10, MRP-L8, MRPL8, RPML8, uL10m Yes No Ensembl:ENSG00000159111, GenAtlas:MRPL10, GeneCard:MRPL10, HGNC:HGNC:14055, HumanCyc Gene:HS14742, ModBase:Q7Z7H8, NCBI Gene:124995, OMIM:611825, RefSeq DNA:NT_010783, RefSeq Protein:NP_660298, RefSeq Protein:NP_683685, RefSeq RNA:NM_145255, RefSeq RNA:NM_148887, RefSeq RNA:NR_037575, UCSC Genome Browser:NM_145255, UniProtKB:Q7Z7H8 No chr17 45900638 45908907 47823272 47831541 +PA30940 65003 HGNC:14042 ENSG00000174547 mitochondrial ribosomal protein L11 MRPL11 uL11m Yes No Comparative Toxicogenomics Database:65003, Ensembl:ENSG00000174547, GenAtlas:MRPL11, GeneCard:MRPL11, HGNC:HGNC:14042, HumanCyc Gene:HS10807, ModBase:Q9Y3B7, NCBI Gene:65003, OMIM:611826, RefSeq DNA:NT_167190, RefSeq Protein:NP_057134, RefSeq Protein:NP_733934, RefSeq Protein:NP_733935, RefSeq RNA:NM_016050, RefSeq RNA:NM_170738, RefSeq RNA:NM_170739, UCSC Genome Browser:NM_016050, UniProtKB:A6NLT0, UniProtKB:Q32P46, UniProtKB:Q9Y3B7 No chr11 66202550 66206310 66435075 66438860 +PA142671331 134008 HGNC:29694 mitochondrial ribosomal protein L11 pseudogene 2 MRPL11P2 Yes No GeneCard:MRPL11P2, HGNC:HGNC:29694, NCBI Gene:134008, RefSeq DNA:NG_002416, RefSeq DNA:NT_029289 No chr5 141416272 141416690 142036707 142037125 +PA134863156 359734 HGNC:29695 mitochondrial ribosomal protein L11 pseudogene 3 MRPL11P3 Yes No GeneCard:MRPL11P3, HGNC:HGNC:29695, NCBI Gene:359734, RefSeq DNA:NG_002850, RefSeq DNA:NT_029419 No chr12 78867094 78867203 78473314 78473423 +PA30941 6182 HGNC:10378 ENSG00000262814 mitochondrial ribosomal protein L12 MRPL12 MRPL7, MRPL7/L12, RPML12, bL12m Yes No Comparative Toxicogenomics Database:6182, Ensembl:ENSG00000262814, GenAtlas:MRPL12, GeneCard:MRPL12, HGNC:HGNC:10378, ModBase:P52815, NCBI Gene:6182, OMIM:602375, RefSeq DNA:NT_010783, RefSeq Protein:NP_002940, RefSeq RNA:NM_002949, UCSC Genome Browser:NM_002949, UniProtKB:P52815 No chr17 79670400 79674556 81703370 81707526 +PA30942 28998 HGNC:14278 ENSG00000172172 mitochondrial ribosomal protein L13 MRPL13 L13, L13A, L13mt, RPL13, RPML13, uL13m Yes No Comparative Toxicogenomics Database:28998, Ensembl:ENSG00000172172, GenAtlas:MRPL13, GeneCard:MRPL13, HGNC:HGNC:14278, HumanCyc Gene:HS10462, ModBase:Q9BYD1, NCBI Gene:28998, OMIM:610200, RefSeq DNA:NT_008046, RefSeq Protein:NP_054797, RefSeq RNA:NM_014078, UCSC Genome Browser:NM_014078, UniProtKB:Q9BYD1 No chr8 121408083 121457647 120395844 120445407 +PA30943 64928 HGNC:14279 ENSG00000180992 mitochondrial ribosomal protein L14 MRPL14 MRP-L32, RPML32, uL14m Yes No Comparative Toxicogenomics Database:64928, Ensembl:ENSG00000180992, GenAtlas:MRPL14, GeneCard:MRPL14, HGNC:HGNC:14279, HumanCyc Gene:HS11561, ModBase:Q6P1L8, NCBI Gene:64928, OMIM:611827, RefSeq DNA:NT_007592, RefSeq Protein:NP_115487, RefSeq RNA:NM_032111, UCSC Genome Browser:NM_032111, UniProtKB:Q6P1L8 No chr6 44081372 44095191 44113454 44127491 +PA134938122 359735 HGNC:29696 mitochondrial ribosomal protein L14 pseudogene 1 MRPL14P1 Yes No GeneCard:MRPL14P1, HGNC:HGNC:29696, NCBI Gene:359735, RefSeq DNA:NG_002851, RefSeq DNA:NT_010718 No chr17 1059271 1059467 1155977 1156173 +PA30944 29088 HGNC:14054 ENSG00000137547 mitochondrial ribosomal protein L15 MRPL15 HSPC145, L15mt, MRP-L15, MRP-L7, RPML7, uL15m Yes No Comparative Toxicogenomics Database:29088, Ensembl:ENSG00000137547, GenAtlas:MRPL15, GeneCard:MRPL15, HGNC:HGNC:14054, HumanCyc Gene:HS06358, ModBase:Q9P015, NCBI Gene:29088, OMIM:611828, RefSeq DNA:NT_008183, RefSeq Protein:NP_054894, RefSeq RNA:NM_014175, UCSC Genome Browser:NM_014175, UniProtKB:Q9P015 No chr8 55047781 55061074 54135210 54148514 +PA134863078 359736 HGNC:29697 ENSG00000259441 mitochondrial ribosomal protein L15 pseudogene 1 MRPL15P1 Yes No Ensembl:ENSG00000259441, GeneCard:MRPL15P1, HGNC:HGNC:29697, NCBI Gene:359736, RefSeq DNA:NG_002852, RefSeq DNA:NT_010274 No chr15 90295575 90296764 89752344 89753533 +PA30945 54948 HGNC:14476 ENSG00000166902 mitochondrial ribosomal protein L16 MRPL16 FLJ20484, PNAS-111, uL16m Yes No Comparative Toxicogenomics Database:54948, Ensembl:ENSG00000166902, GenAtlas:MRPL16, GeneCard:MRPL16, HGNC:HGNC:14476, HumanCyc Gene:HS09477, ModBase:Q9NX20, NCBI Gene:54948, OMIM:611829, RefSeq DNA:NT_167190, RefSeq Protein:NP_060310, RefSeq RNA:NM_017840, UCSC Genome Browser:NM_017840, UniProtKB:Q9NX20 No chr11 59573608 59578345 59806135 59810872 +PA30946 63875 HGNC:14053 ENSG00000158042 mitochondrial ribosomal protein L17 MRPL17 MRP-L26, RPML26, bL17m Yes No Comparative Toxicogenomics Database:63875, Ensembl:ENSG00000158042, GenAtlas:MRPL17, GeneCard:MRPL17, HGNC:HGNC:14053, HumanCyc Gene:HS08263, ModBase:Q9NRX2, NCBI Gene:63875, OMIM:611830, RefSeq DNA:NT_009237, RefSeq Protein:NP_071344, RefSeq RNA:NM_022061, UCSC Genome Browser:NM_022061, UniProtKB:Q9NRX2 No chr11 6701616 6704632 6680385 6683401 +PA30947 29074 HGNC:14477 ENSG00000112110 mitochondrial ribosomal protein L18 MRPL18 HSPC071, uL18m Yes No Comparative Toxicogenomics Database:29074, Ensembl:ENSG00000112110, GenAtlas:MRPL18, GeneCard:MRPL18, HGNC:HGNC:14477, HumanCyc Gene:HS03516, ModBase:Q9H0U6, NCBI Gene:29074, OMIM:611831, RefSeq DNA:NT_025741, RefSeq Protein:NP_054880, RefSeq RNA:NM_014161, UCSC Genome Browser:NM_014161, UniProtKB:Q9H0U6 No chr6 160211492 160219461 159789812 159798429 +PA30948 9801 HGNC:14052 ENSG00000115364 mitochondrial ribosomal protein L19 MRPL19 39S ribosomal protein L19 KIAA0104, MRP-L15, RLX1, RPML15, bL19m Yes No Ensembl:ENSG00000115364, GenAtlas:MRPL19, GeneCard:MRPL19, HGNC:HGNC:14052, HumanCyc Gene:HS03877, ModBase:P49406, NCBI Gene:9801, OMIM:611832, RefSeq DNA:NT_022184, RefSeq Protein:NP_055578, RefSeq RNA:NM_014763, UCSC Genome Browser:NM_014763, UniProtKB:P49406 No chr2 75873909 75889334 75646783 75662208 +PA30949 51069 HGNC:14056 ENSG00000112651 mitochondrial ribosomal protein L2 MRPL2 CGI-22, MRP-L14, RPML14, uL2m Yes No Comparative Toxicogenomics Database:51069, Ensembl:ENSG00000112651, GenAtlas:MRPL2, GeneCard:MRPL2, HGNC:HGNC:14056, HumanCyc Gene:HS03598, ModBase:Q5T653, NCBI Gene:51069, OMIM:611822, RefSeq DNA:NT_007592, RefSeq Protein:NP_057034, RefSeq RNA:NM_015950, UCSC Genome Browser:NM_015950, UniProtKB:Q5T653 No chr6 43021767 43028259 43054029 43059863 +PA30950 55052 HGNC:14478 ENSG00000242485 mitochondrial ribosomal protein L20 MRPL20 FLJ10024, bL20m Yes No Comparative Toxicogenomics Database:55052, Ensembl:ENSG00000242485, GenAtlas:MRPL20, GeneCard:MRPL20, HGNC:HGNC:14478, HumanCyc Gene:HS05545, ModBase:Q9BYC9, NCBI Gene:55052, OMIM:611833, RefSeq DNA:NT_004350, RefSeq Protein:NP_060441, RefSeq RNA:NM_017971, UCSC Genome Browser:NM_017971, UniProtKB:Q9BYC9 No chr1 1337276 1342693 1401896 1407313 +PA30951 219927 HGNC:14479 ENSG00000197345 mitochondrial ribosomal protein L21 MRPL21 bL21m Yes No Ensembl:ENSG00000197345, GenAtlas:MRPL21, GeneCard:MRPL21, HGNC:HGNC:14479, ModBase:Q7Z2W9, NCBI Gene:219927, OMIM:611834, RefSeq DNA:NT_167190, RefSeq Protein:NP_852615, RefSeq Protein:NP_852616, RefSeq RNA:NM_181514, RefSeq RNA:NM_181515, UCSC Genome Browser:NM_181512, UniProtKB:C9JPR2, UniProtKB:Q7Z2W9 No chr11 68658744 68671303 68891276 68903835 +PA30952 29093 HGNC:14480 ENSG00000082515 mitochondrial ribosomal protein L22 MRPL22 HSPC158, MRP-L25, RPML25, uL22m Yes No Comparative Toxicogenomics Database:29093, Ensembl:ENSG00000082515, GenAtlas:MRPL22, GeneCard:MRPL22, HGNC:HGNC:14480, HumanCyc Gene:HS01425, ModBase:Q9NWU5, NCBI Gene:29093, OMIM:611835, RefSeq DNA:NT_029289, RefSeq Protein:NP_001014990, RefSeq Protein:NP_054899, RefSeq RNA:NM_001014990, RefSeq RNA:NM_014180, UCSC Genome Browser:NM_014180, UniProtKB:A6NGJ8, UniProtKB:Q9NWU5 No chr5 154320633 154348971 154941073 154969411 +PA30953 6150 HGNC:10322 ENSG00000214026 mitochondrial ribosomal protein L23 MRPL23 L23MRP, RPL23L, uL23m Yes No Comparative Toxicogenomics Database:6150, Ensembl:ENSG00000214026, GenAtlas:MRPL23, GeneCard:MRPL23, HGNC:HGNC:10322, ModBase:Q16540, NCBI Gene:6150, OMIM:600789, RefSeq DNA:NT_009237, RefSeq Protein:NP_066957, RefSeq RNA:NM_021134, UCSC Genome Browser:NM_021134, UniProtKB:Q16540 No chr11 1968502 2007295 1947272 2013176 +PA30954 79590 HGNC:14037 ENSG00000143314 mitochondrial ribosomal protein L24 MRPL24 MRP-L18, uL24m Yes No Comparative Toxicogenomics Database:79590, Ensembl:ENSG00000143314, GenAtlas:MRPL24, GeneCard:MRPL24, HGNC:HGNC:14037, HumanCyc Gene:HS07021, ModBase:Q96A35, NCBI Gene:79590, OMIM:611836, RefSeq DNA:NT_004487, RefSeq Protein:NP_078816, RefSeq Protein:NP_663781, RefSeq RNA:NM_024540, RefSeq RNA:NM_145729, UCSC Genome Browser:NM_024540, UniProtKB:Q96A35 No chr1 156707094 156710923 156737302 156741267 +PA30957 51264 HGNC:14483 ENSG00000108826 mitochondrial ribosomal protein L27 MRPL27 bL27m Yes No Comparative Toxicogenomics Database:51264, Ensembl:ENSG00000108826, GenAtlas:MRPL27, GeneCard:MRPL27, HGNC:HGNC:14483, HumanCyc Gene:HS03164, ModBase:Q9P0M9, NCBI Gene:51264, OMIM:611837, RefSeq DNA:NT_010783, RefSeq Protein:NP_057588, RefSeq RNA:NM_016504, UCSC Genome Browser:NM_016504, UniProtKB:Q9P0M9 No chr17 48445228 48450562 50367867 50373201 +PA30515 10573 HGNC:14484 ENSG00000086504 mitochondrial ribosomal protein L28 MRPL28 MAAT1, bL28m, p15 Yes No Comparative Toxicogenomics Database:10573, Ensembl:ENSG00000086504, GenAtlas:MRPL28, GeneCard:MRPL28, HGNC:HGNC:14484, HumanCyc Gene:HS01531, ModBase:Q13084, NCBI Gene:10573, OMIM:604853, RefSeq DNA:NT_010393, RefSeq Protein:NP_006419, RefSeq RNA:NM_006428, UCSC Genome Browser:NM_006428, UniProtKB:Q13084 No chr16 417384 420584 367384 370569 +PA134982018 347894 HGNC:29698 ENSG00000257480 mitochondrial ribosomal protein L2 pseudogene 1 MRPL2P1 Yes No Ensembl:ENSG00000257480, GeneCard:MRPL2P1, HGNC:HGNC:29698, NCBI Gene:347894, RefSeq DNA:NG_002838, RefSeq DNA:NT_029419 No chr12 90146688 90147629 89752909 89753867 +PA30960 11222 HGNC:10379 ENSG00000114686 mitochondrial ribosomal protein L3 MRPL3 MRL3, RPML3, uL3m Yes No Comparative Toxicogenomics Database:11222, Ensembl:ENSG00000114686, GenAtlas:MRPL3, GeneCard:MRPL3, HGNC:HGNC:10379, HumanCyc Gene:HS03789, ModBase:P09001, NCBI Gene:11222, OMIM:607118, RefSeq DNA:NT_005612, RefSeq Protein:NP_009139, RefSeq RNA:NM_007208, UCSC Genome Browser:NM_007208, UniProtKB:P09001 No chr3 131181045 131221860 131462201 131503016 +PA30961 51263 HGNC:14036 ENSG00000185414 mitochondrial ribosomal protein L30 MRPL30 MRP-L28, RPML28, uL30m Yes No Comparative Toxicogenomics Database:51263, Ensembl:ENSG00000185414, GenAtlas:MRPL30, GeneCard:MRPL30, HGNC:HGNC:14036, HumanCyc Gene:HS07153, ModBase:Q8TCC3, NCBI Gene:51263, OMIM:611838, RefSeq DNA:NT_022171, RefSeq Protein:NP_660213, RefSeq Protein:NP_660214, RefSeq RNA:NM_145212, RefSeq RNA:NM_145213, RefSeq RNA:NR_028356, UCSC Genome Browser:NM_016503, UniProtKB:Q8TCC3 No chr2 99797542 99816020 99181079 99199557 +PA30963 64983 HGNC:14035 ENSG00000106591 mitochondrial ribosomal protein L32 MRPL32 HSPC283, L32mt, MRP-L32, bL32m, bMRP-59b Yes No Ensembl:ENSG00000106591, GenAtlas:MRPL32, GeneCard:MRPL32, HGNC:HGNC:14035, HumanCyc Gene:HS02927, ModBase:Q9BYC8, NCBI Gene:64983, OMIM:611839, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_114109, RefSeq RNA:NM_031903, UCSC Genome Browser:NM_031903, UniProtKB:A4D1V4, UniProtKB:Q9BYC8 No chr7 42971804 42977456 42932205 42937857 +PA30964 9553 HGNC:14487 ENSG00000243147 mitochondrial ribosomal protein L33 MRPL33 C2orf1, RPL33L, bL33m Yes No Comparative Toxicogenomics Database:9553, Ensembl:ENSG00000243147, GenAtlas:MRPL33, GeneCard:MRPL33, HGNC:HGNC:14487, ModBase:O75394, NCBI Gene:9553, OMIM:610059, RefSeq DNA:NT_022184, RefSeq Protein:NP_004882, RefSeq Protein:NP_663303, RefSeq RNA:NM_004891, RefSeq RNA:NM_145330, UCSC Genome Browser:NM_004891, UniProtKB:O75394, UniProtKB:Q5FVE3 No chr2 27994584 28002608 27771717 27779741 +PA30965 64981 HGNC:14488 ENSG00000130312 mitochondrial ribosomal protein L34 MRPL34 L34mt, MGC24974, MGC2633, bL34m Yes No Comparative Toxicogenomics Database:64981, Ensembl:ENSG00000130312, GenAtlas:MRPL34, GeneCard:MRPL34, HGNC:HGNC:14488, HumanCyc Gene:HS05369, ModBase:Q9BQ48, NCBI Gene:64981, OMIM:611840, RefSeq DNA:NT_011295, RefSeq Protein:NP_076426, RefSeq RNA:NM_023937, UCSC Genome Browser:NM_023937, UniProtKB:Q9BQ48 No chr19 17413616 17417652 17302807 17306843 +PA30966 51318 HGNC:14489 ENSG00000132313 mitochondrial ribosomal protein L35 MRPL35 bL35m Yes No Comparative Toxicogenomics Database:51318, Ensembl:ENSG00000132313, GenAtlas:MRPL35, GeneCard:MRPL35, HGNC:HGNC:14489, HumanCyc Gene:HS05615, ModBase:Q9NZE8, NCBI Gene:51318, OMIM:611841, RefSeq DNA:NT_022184, RefSeq Protein:NP_057706, RefSeq Protein:NP_663619, RefSeq RNA:NM_016622, RefSeq RNA:NM_145644, UCSC Genome Browser:NM_016622, UniProtKB:Q9NZE8 No chr2 86426478 86440913 86199355 86213794 +PA134894230 359744 HGNC:23731 ENSG00000226253 mitochondrial ribosomal protein L35 pseudogene 3 MRPL35P3 Yes No Ensembl:ENSG00000226253, GeneCard:MRPL35P3, HGNC:HGNC:23731, NCBI Gene:359744, RefSeq DNA:NG_002860, RefSeq DNA:NT_030059 No chr10 76287342 76287711 74527584 74527953 +PA30967 64979 HGNC:14490 ENSG00000171421 mitochondrial ribosomal protein L36 MRPL36 """39S ribosomal protein L36, mitochondrial"", ""putative BRCA1-interacting protein""" BRIP1, L36mt, MRP-L36, PRPL36, RPMJ, bL36m Yes No Comparative Toxicogenomics Database:64979, Ensembl:ENSG00000171421, GenAtlas:MRPL36, GeneCard:MRPL36, HGNC:HGNC:14490, HumanCyc Gene:HS10300, ModBase:Q9P0J6, NCBI Gene:64979, OMIM:611842, RefSeq DNA:NT_006576, RefSeq Protein:NP_115868, RefSeq RNA:NM_032479, UCSC Genome Browser:NM_032479, UniProtKB:Q9P0J6 No chr5 1798499 1799956 1798385 1801432 +PA134922443 285003 HGNC:29708 ENSG00000225392 mitochondrial ribosomal protein L36 pseudogene 1 MRPL36P1 Yes No Ensembl:ENSG00000225392, GeneCard:MRPL36P1, HGNC:HGNC:29708, NCBI Gene:285003, RefSeq DNA:NG_002831, RefSeq DNA:NT_022184 No chr2 70329621 70330218 70102489 70103086 +PA30968 51253 HGNC:14034 ENSG00000116221 mitochondrial ribosomal protein L37 MRPL37 MRP-L2, RPML2, mL37 Yes No Comparative Toxicogenomics Database:51253, Ensembl:ENSG00000116221, GenAtlas:MRPL37, GeneCard:MRPL37, HGNC:HGNC:14034, HumanCyc Gene:HS03998, ModBase:Q9BZE1, NCBI Gene:51253, OMIM:611843, RefSeq DNA:NT_032977, RefSeq Protein:NP_057575, RefSeq RNA:NM_016491, UCSC Genome Browser:NM_016491, UniProtKB:Q9BZE1 No chr1 54665840 54691407 54200167 54225489 +PA134972128 100420950 HGNC:31003 ENSG00000266946 mitochondrial ribosomal protein L37 pseudogene 1 MRPL37P1 HsT4307 Yes No Ensembl:ENSG00000266946, GeneCard:MRPL37P1, HGNC:HGNC:31003, NCBI Gene:100420950 No chr18 56357588 56358834 58690356 58691602 +PA30969 64978 HGNC:14033 ENSG00000204316 mitochondrial ribosomal protein L38 MRPL38 HSPC262, MGC4810, MRP-L3, RPML3, mL38 Yes No Comparative Toxicogenomics Database:64978, Ensembl:ENSG00000204316, GenAtlas:MRPL38, GeneCard:MRPL38, HGNC:HGNC:14033, ModBase:Q96DV4, NCBI Gene:64978, OMIM:611844, RefSeq DNA:NT_010783, RefSeq Protein:NP_115867, RefSeq RNA:NM_032478, UCSC Genome Browser:NM_032478, UniProtKB:Q96DV4 No chr17 73894724 73901181 75898643 75905100 +PA30970 54148 HGNC:14027 ENSG00000154719 mitochondrial ribosomal protein L39 MRPL39 C21orf92, FLJ20451, L39mt, MGC104174, MGC3400, MRP-L5, MSTP003, PRED22, PRED66, RPML5, mL39 Yes No Comparative Toxicogenomics Database:54148, Ensembl:ENSG00000154719, GenAtlas:MRPL39, GeneCard:MRPL39, HGNC:HGNC:14027, HumanCyc Gene:HS08001, ModBase:Q9NYK5, NCBI Gene:54148, OMIM:611845, RefSeq DNA:NT_011512, RefSeq Protein:NP_059142, RefSeq Protein:NP_542984, RefSeq RNA:NM_017446, RefSeq RNA:NM_080794, UCSC Genome Browser:NM_017446, UniProtKB:Q9NYK5 No chr21 26957968 26979801 25585656 25607858 +PA30971 51073 HGNC:14276 ENSG00000105364 mitochondrial ribosomal protein L4 MRPL4 CGI-28, uL4m Yes No Comparative Toxicogenomics Database:51073, Ensembl:ENSG00000105364, GenAtlas:MRPL4, GeneCard:MRPL4, HGNC:HGNC:14276, HumanCyc Gene:HS02718, ModBase:Q9BYD3, NCBI Gene:51073, OMIM:611823, RefSeq DNA:NT_011295, RefSeq Protein:NP_057040, RefSeq Protein:NP_666499, RefSeq Protein:NP_666500, RefSeq RNA:NM_015956, RefSeq RNA:NM_146387, RefSeq RNA:NM_146388, UCSC Genome Browser:NM_015956, UniProtKB:Q9BYD3 No chr19 10362640 10370736 10251964 10260060 +PA30972 64976 HGNC:14491 ENSG00000185608 mitochondrial ribosomal protein L40 MRPL40 MRP-L22, NLVCF, mL40 Yes No Comparative Toxicogenomics Database:64976, Ensembl:ENSG00000185608, GenAtlas:MRPL40, GeneCard:MRPL40, HGNC:HGNC:14491, ModBase:Q9NQ50, NCBI Gene:64976, OMIM:605089, RefSeq DNA:NT_011519, RefSeq Protein:NP_003767, RefSeq RNA:NM_003776, UCSC Genome Browser:NM_003776, UniProtKB:Q9NQ50 No chr22 19419302 19423600 19431902 19436078 +PA30973 64975 HGNC:14492 ENSG00000182154 mitochondrial ribosomal protein L41 MRPL41 BMRP, MRP-L27, MRPL27, PIG3, RPML27, mL41 Yes No Comparative Toxicogenomics Database:64975, Ensembl:ENSG00000182154, GenAtlas:MRPL41, GeneCard:MRPL41, HGNC:HGNC:14492, NCBI Gene:64975, OMIM:611846, RefSeq DNA:NT_024000, RefSeq Protein:NP_115866, RefSeq RNA:NM_032477, UCSC Genome Browser:NM_032477, UniProtKB:Q8IXM3 No chr9 140446309 140447007 137551857 137552555 +PA30974 28977 HGNC:14493 ENSG00000198015 mitochondrial ribosomal protein L42 MRPL42 mitochondrial ribosomal protein S32 HSPC204, MRP-L31, MRPL31, MRPS32, PTD007, RPML31, mL42 Yes No Ensembl:ENSG00000198015, GenAtlas:MRPL42, GeneCard:MRPL42, HGNC:HGNC:14493, NCBI Gene:28977, OMIM:611847, RefSeq DNA:NT_029419, RefSeq Protein:NP_054769, RefSeq Protein:NP_751917, RefSeq Protein:NP_751918, RefSeq RNA:NM_014050, RefSeq RNA:NM_172177, RefSeq RNA:NM_172178, RefSeq RNA:NR_038159, RefSeq RNA:NR_038160, RefSeq RNA:NR_038161, UCSC Genome Browser:NM_014050, UniProtKB:A6NCI0, UniProtKB:Q9Y6G3 No chr12 93861266 93897548 93467490 93503772 +PA134956728 285415 HGNC:29710 mitochondrial ribosomal protein L42 pseudogene 1 MRPL42P1 Yes No GeneCard:MRPL42P1, HGNC:HGNC:29710, NCBI Gene:285415, RefSeq DNA:NG_002665, RefSeq DNA:NT_016354 No chr4 120116421 120116846 119195266 119195691 +PA134920597 359821 HGNC:29714 mitochondrial ribosomal protein L42 pseudogene 5 MRPL42P5 Yes No GeneCard:MRPL42P5, HGNC:HGNC:29714, NCBI Gene:359821, RefSeq DNA:NT_010194, RefSeq RNA:NR_002208 No chr15 40824083 40824749 40531884 40532550 +PA30975 84545 HGNC:14517 ENSG00000055950 mitochondrial ribosomal protein L43 MRPL43 bMRP36a, mL43 Yes No Comparative Toxicogenomics Database:84545, Ensembl:ENSG00000055950, GenAtlas:MRPL43, GeneCard:MRPL43, HGNC:HGNC:14517, HumanCyc Gene:HS00688, ModBase:Q8N983, NCBI Gene:84545, OMIM:611848, RefSeq DNA:NG_011646, RefSeq DNA:NT_030059, RefSeq Protein:NP_115488, RefSeq Protein:NP_789762, RefSeq Protein:NP_789763, RefSeq Protein:NP_789764, RefSeq RNA:NM_032112, RefSeq RNA:NM_176792, RefSeq RNA:NM_176793, RefSeq RNA:NM_176794, UCSC Genome Browser:NM_032112, UniProtKB:A8K4V4, UniProtKB:C9J5Q3, UniProtKB:Q8N983 No chr10 102737579 102747272 100977822 100987519 +PA30976 65080 HGNC:16650 ENSG00000135900 mitochondrial ribosomal protein L44 MRPL44 39S ribosomal protein L44, mitochondrial FLJ12701, FLJ13990, mL44 Yes No Ensembl:ENSG00000135900, GenAtlas:MRPL44, GeneCard:MRPL44, HGNC:HGNC:16650, HumanCyc Gene:HS06077, ModBase:Q9H9J2, NCBI Gene:65080, OMIM:611849, RefSeq DNA:NT_005403, RefSeq Protein:NP_075066, RefSeq RNA:NM_022915, UCSC Genome Browser:NM_022915, UniProtKB:Q9H9J2 No chr2 224822121 224832431 223943224 223967714 +PA30977 84311 HGNC:16651 ENSG00000278845 mitochondrial ribosomal protein L45 MRPL45 MGC11321, Mba1, mL45 Yes No Comparative Toxicogenomics Database:84311, Ensembl:ENSG00000278845, GenAtlas:MRPL45, GeneCard:MRPL45, HGNC:HGNC:16651, HumanCyc Gene:HS10764, ModBase:Q9BRJ2, NCBI Gene:84311, OMIM:611850, RefSeq DNA:NT_010783, RefSeq Protein:NP_115727, RefSeq RNA:NM_032351, UCSC Genome Browser:NM_032351 No chr17 36452989 36479101 38297023 38323218 +PA30978 26589 HGNC:1192 ENSG00000259494 mitochondrial ribosomal protein L46 MRPL46 C15orf4, LIECG2, P2ECSL, mL46 Yes No Comparative Toxicogenomics Database:26589, Ensembl:ENSG00000259494, GenAtlas:MRPL46, GeneCard:MRPL46, HGNC:HGNC:1192, HumanCyc Gene:HS10740, ModBase:Q9H2W6, NCBI Gene:26589, OMIM:611851, RefSeq DNA:NT_010274, RefSeq Protein:NP_071446, RefSeq RNA:NM_022163, UCSC Genome Browser:NM_022163, UniProtKB:Q9H2W6 No chr15 89002709 89010633 88459478 88467402 +PA30979 57129 HGNC:16652 ENSG00000136522 mitochondrial ribosomal protein L47 MRPL47 nasopharyngeal carcinoma metastasis-related 1 CGI-204, NCM1, uL29m Yes Yes Ensembl:ENSG00000136522, GenAtlas:MRPL47, GeneCard:MRPL47, HGNC:HGNC:16652, HumanCyc Gene:HS06176, ModBase:Q9HD33, NCBI Gene:57129, OMIM:611852, RefSeq DNA:NT_005612, RefSeq Protein:NP_065142, RefSeq Protein:NP_817125, RefSeq RNA:NM_020409, RefSeq RNA:NM_177988, UCSC Genome Browser:NM_020409, UniProtKB:Q9HD33 No chr3 179306253 179322434 179588465 179604646 +PA30980 51642 HGNC:16653 ENSG00000175581 mitochondrial ribosomal protein L48 MRPL48 CGI-118, mL48 Yes No Comparative Toxicogenomics Database:51642, Ensembl:ENSG00000175581, GenAtlas:MRPL48, GeneCard:MRPL48, HGNC:HGNC:16653, HumanCyc Gene:HS16477, ModBase:Q96GC5, NCBI Gene:51642, OMIM:611853, RefSeq DNA:NT_167190, RefSeq Protein:NP_057139, RefSeq RNA:NM_016055, UCSC Genome Browser:NM_016055, UniProtKB:Q96GC5 No chr11 73498917 73575656 73787872 73864611 +PA134948172 221717 HGNC:21379 ENSG00000238076 mitochondrial ribosomal protein L48 pseudogene 1 MRPL48P1 MRPL48L1, dJ290I10.4 Yes No Ensembl:ENSG00000238076, GeneCard:MRPL48P1, HGNC:HGNC:21379, NCBI Gene:221717, RefSeq DNA:NG_002430, RefSeq DNA:NT_007592 No chr6 10459910 10460822 10459677 10460589 +PA30981 740 HGNC:1176 ENSG00000149792 mitochondrial ribosomal protein L49 MRPL49 neighbor of FAU, next to FAU C11orf4, L49mt, NOF, NOF1, mL49 Yes No Comparative Toxicogenomics Database:740, Ensembl:ENSG00000149792, GenAtlas:MRPL49, GeneCard:MRPL49, HGNC:HGNC:1176, HumanCyc Gene:HS07641, ModBase:Q13405, NCBI Gene:740, OMIM:606866, RefSeq DNA:NT_167190, RefSeq Protein:NP_004918, RefSeq RNA:NM_004927, RefSeq RNA:NR_037567, RefSeq RNA:NR_037568, UCSC Genome Browser:NM_004927, UniProtKB:Q13405 No chr11 64889655 64894841 65122183 65127369 +PA134970099 346711 HGNC:29718 ENSG00000253934 mitochondrial ribosomal protein L49 pseudogene 2 MRPL49P2 Yes No Ensembl:ENSG00000253934, GeneCard:MRPL49P2, HGNC:HGNC:29718, NCBI Gene:346711, RefSeq DNA:NG_002836, RefSeq DNA:NT_167187 No chr8 16232128 16232595 16374619 16375086 +PA30983 54534 HGNC:16654 ENSG00000136897 mitochondrial ribosomal protein L50 MRPL50 mitochondrial 39S ribosomal protein L50 FLJ20493, MRP-L50, mL50 Yes No Comparative Toxicogenomics Database:54534, Ensembl:ENSG00000136897, GenAtlas:MRPL50, GeneCard:MRPL50, HGNC:HGNC:16654, HumanCyc Gene:HS06243, NCBI Gene:54534, OMIM:611854, RefSeq DNA:NT_008470, RefSeq Protein:NP_061924, RefSeq RNA:NM_019051, UCSC Genome Browser:NM_019051, UniProtKB:Q8N5N7 No chr9 104151096 104160919 101389967 101398637 +PA134931885 351143 HGNC:29719 ENSG00000234587 mitochondrial ribosomal protein L50 pseudogene 1 MRPL50P1 Yes No Ensembl:ENSG00000234587, GeneCard:MRPL50P1, HGNC:HGNC:29719, NCBI Gene:351143, RefSeq DNA:NG_002841, RefSeq DNA:NT_022184 No chr2 35949825 35950222 35724759 35725156 +PA30984 51258 HGNC:14044 ENSG00000111639 mitochondrial ribosomal protein L51 MRPL51 CDA09, HSPC241, MRP64, bMRP64, mL51 Yes No Comparative Toxicogenomics Database:51258, Ensembl:ENSG00000111639, GenAtlas:MRPL51, GeneCard:MRPL51, HGNC:HGNC:14044, HumanCyc Gene:HS03432, NCBI Gene:51258, OMIM:611855, RefSeq DNA:NT_009759, RefSeq Protein:NP_057581, RefSeq RNA:NM_016497, UCSC Genome Browser:NM_016497, UniProtKB:Q4U2R6 No chr12 6601316 6602471 6492150 6493305 +PA134911360 351773 HGNC:29723 mitochondrial ribosomal protein L51 pseudogene 1 MRPL51P1 Yes No GeneCard:MRPL51P1, HGNC:HGNC:29723, NCBI Gene:351773, RefSeq DNA:NG_002843, RefSeq DNA:NT_006316 No chr4 27424555 27424817 27422933 27423195 +PA134870195 343819 HGNC:29724 ENSG00000232777 mitochondrial ribosomal protein L51 pseudogene 2 MRPL51P2 Yes No Ensembl:ENSG00000232777, GeneCard:MRPL51P2, HGNC:HGNC:29724, NCBI Gene:343819, RefSeq DNA:NG_002834, RefSeq DNA:NT_011515 No chr21 44535326 44535957 43115216 43115847 +PA30985 122704 HGNC:16655 ENSG00000172590 mitochondrial ribosomal protein L52 MRPL52 mL52 Yes No Comparative Toxicogenomics Database:122704, Ensembl:ENSG00000172590, GenAtlas:MRPL52, GeneCard:MRPL52, HGNC:HGNC:16655, NCBI Gene:122704, OMIM:611856, RefSeq DNA:NT_026437, RefSeq Protein:NP_848026, RefSeq Protein:NP_851313, RefSeq Protein:NP_851821, RefSeq Protein:NP_851822, RefSeq Protein:NP_851823, RefSeq Protein:NP_851824, RefSeq RNA:NM_178336, RefSeq RNA:NM_180982, RefSeq RNA:NM_181304, RefSeq RNA:NM_181305, RefSeq RNA:NM_181306, RefSeq RNA:NM_181307, UCSC Genome Browser:NM_178336, UniProtKB:A6NLB9, UniProtKB:A6NMQ8, UniProtKB:Q86TS9 No chr14 23299088 23304246 22829860 22835037 +PA30986 116540 HGNC:16684 ENSG00000204822 mitochondrial ribosomal protein L53 MRPL53 mL53 Yes No Comparative Toxicogenomics Database:116540, Ensembl:ENSG00000204822, GenAtlas:MRPL53, GeneCard:MRPL53, HGNC:HGNC:16684, HumanCyc Gene:HS14751, ModBase:Q96EL3, NCBI Gene:116540, OMIM:611857, RefSeq DNA:NT_022184, RefSeq Protein:NP_444278, RefSeq RNA:NM_053050, UCSC Genome Browser:NM_053050, UniProtKB:Q96EL3 No chr2 74699085 74699942 74471958 74472815 +PA30987 116541 HGNC:16685 ENSG00000183617 mitochondrial ribosomal protein L54 MRPL54 mL54 Yes No Ensembl:ENSG00000183617, GenAtlas:MRPL54, GeneCard:MRPL54, HGNC:HGNC:16685, NCBI Gene:116541, OMIM:611858, RefSeq DNA:NT_011255, RefSeq Protein:NP_758455, RefSeq RNA:NM_172251, UCSC Genome Browser:NM_172251, UniProtKB:Q6P161 No chr19 3762665 3767563 3762667 3767565 +PA30988 128308 HGNC:16686 ENSG00000162910 mitochondrial ribosomal protein L55 MRPL55 bL31m Yes No Comparative Toxicogenomics Database:128308, Ensembl:ENSG00000162910, GenAtlas:MRPL55, GeneCard:MRPL55, HGNC:HGNC:16686, NCBI Gene:128308, OMIM:611859, RefSeq DNA:NT_167186, RefSeq Protein:NP_852106, RefSeq Protein:NP_852119, RefSeq Protein:NP_852120, RefSeq Protein:NP_852121, RefSeq Protein:NP_852127, RefSeq Protein:NP_852128, RefSeq Protein:NP_852129, RefSeq Protein:NP_852130, RefSeq RNA:NM_181441, RefSeq RNA:NM_181454, RefSeq RNA:NM_181455, RefSeq RNA:NM_181456, RefSeq RNA:NM_181462, RefSeq RNA:NM_181463, RefSeq RNA:NM_181464, RefSeq RNA:NM_181465, UCSC Genome Browser:NM_181441, UniProtKB:Q7Z7F7 No chr1 228294380 228297037 228106679 228109344 +PA30937 78988 HGNC:14514 ENSG00000173141 mitochondrial ribosomal protein L57 MRPL57 mitochondrial ribosomal protein 63 MRP63, mL63 Yes No Comparative Toxicogenomics Database:78988, Ensembl:ENSG00000173141, GenAtlas:MRP63, GeneCard:MRP63, HGNC:HGNC:14514, HumanCyc Gene:HS10621, NCBI Gene:78988, OMIM:611997, RefSeq DNA:NT_024524, RefSeq Protein:NP_076931, RefSeq RNA:NM_024026, UCSC Genome Browser:NM_024026, UniProtKB:Q9BQC6 No chr13 21750372 21753223 21176233 21179084 +PA29607 3396 HGNC:5359 ENSG00000167862 mitochondrial ribosomal protein L58 MRPL58 immature colon carcinoma transcript 1 DS-1, ICT1, mL62 Yes No Ensembl:ENSG00000167862, GenAtlas:ICT1, GeneCard:ICT1, HGNC:HGNC:5359, HumanCyc Gene:HS09653, ModBase:Q14197, NCBI Gene:3396, OMIM:603000, RefSeq DNA:NT_010783, RefSeq Protein:NP_001536, RefSeq RNA:NM_001545, UCSC Genome Browser:NM_001545, UniProtKB:Q14197 No chr17 +PA30991 65005 HGNC:14277 ENSG00000143436 mitochondrial ribosomal protein L9 MRPL9 bL9m Yes No Comparative Toxicogenomics Database:65005, Ensembl:ENSG00000143436, GenAtlas:MRPL9, GeneCard:MRPL9, HGNC:HGNC:14277, HumanCyc Gene:HS07054, ModBase:Q9BYD2, NCBI Gene:65005, OMIM:611824, RefSeq DNA:NT_004487, RefSeq Protein:NP_113608, RefSeq RNA:NM_031420, UCSC Genome Browser:NM_031420, UniProtKB:Q9BYD2 No chr1 151732119 151736040 151759643 151763916 +PA134896647 137290 HGNC:29726 ENSG00000254305 mitochondrial ribosomal protein L9 pseudogene 1 MRPL9P1 Yes No Ensembl:ENSG00000254305, GeneCard:MRPL9P1, HGNC:HGNC:29726, NCBI Gene:137290, RefSeq DNA:NG_001539, RefSeq DNA:NT_008183 No chr8 77515068 77516089 76602827 76603873 +PA30993 55173 HGNC:14502 ENSG00000048544 mitochondrial ribosomal protein S10 MRPS10 FLJ10567, uS10m Yes No Comparative Toxicogenomics Database:55173, Ensembl:ENSG00000048544, GenAtlas:MRPS10, GeneCard:MRPS10, HGNC:HGNC:14502, HumanCyc Gene:HS00605, ModBase:P82664, NCBI Gene:55173, OMIM:611976, RefSeq DNA:NT_007592, RefSeq Protein:NP_060611, RefSeq RNA:NM_018141, UCSC Genome Browser:NM_018141, UniProtKB:P82664 No chr6 42174539 42185633 42206801 42217907 +PA142671326 359753 HGNC:29728 ENSG00000235378 mitochondrial ribosomal protein S10 pseudogene 1 MRPS10P1 Yes No Ensembl:ENSG00000235378, GeneCard:MRPS10P1, HGNC:HGNC:29728, NCBI Gene:359753, RefSeq DNA:NG_002869, RefSeq DNA:NT_004487 No chr1 169959216 169959346 169990075 169990205 +PA142671327 359802 HGNC:29727 ENSG00000234325 mitochondrial ribosomal protein S10 pseudogene 2 MRPS10P2 MRPS10P3, MRPS10P4 Yes No Ensembl:ENSG00000234325, GeneCard:MRPS10P2, HGNC:HGNC:29727, NCBI Gene:359802, RefSeq DNA:NG_002903, RefSeq DNA:NT_022517 No chr3 4456244 4456647 4414560 4414963 +PA142671328 359754 HGNC:29729 mitochondrial ribosomal protein S10 pseudogene 5 MRPS10P5 Yes No GeneCard:MRPS10P5, HGNC:HGNC:29729, NCBI Gene:359754, RefSeq DNA:NG_002870, RefSeq DNA:NT_008413 No chr9 37835818 37836396 37835821 37836399 +PA30994 64963 HGNC:14050 ENSG00000181991 mitochondrial ribosomal protein S11 MRPS11 cervical cancer proto-oncogene 2 FLJ22512, FLJ23406, HCC-2, uS11m Yes No Ensembl:ENSG00000181991, GenAtlas:MRPS11, GeneCard:MRPS11, HGNC:HGNC:14050, HumanCyc Gene:HS11692, ModBase:P82912, NCBI Gene:64963, OMIM:611977, RefSeq DNA:NT_010274, RefSeq Protein:NP_073750, RefSeq Protein:NP_789775, RefSeq RNA:NM_022839, RefSeq RNA:NM_176805, UCSC Genome Browser:NM_022839, UniProtKB:P82912 No chr15 89010684 89021861 88467453 88480767 +PA30995 128774 HGNC:16584 ENSG00000225803 mitochondrial ribosomal protein S11 pseudogene 1 MRPS11P1 dJ746H2.1 Yes No Ensembl:ENSG00000225803, GenAtlas:MRPS11P1, GeneCard:MRPS11P1, HGNC:HGNC:16584, NCBI Gene:128774, RefSeq DNA:NG_000977, RefSeq DNA:NT_011387 No chr20 20834474 20835288 20853788 20854596 +PA30996 6183 HGNC:10380 ENSG00000128626 mitochondrial ribosomal protein S12 MRPS12 RPMS12, RPS12, RPSM12, uS12m Yes No Comparative Toxicogenomics Database:6183, Ensembl:ENSG00000128626, GenAtlas:MRPS12, GeneCard:MRPS12, HGNC:HGNC:10380, HumanCyc Gene:HS05208, ModBase:O15235, NCBI Gene:6183, OMIM:603021, RefSeq DNA:NT_011109, RefSeq Protein:NP_066930, RefSeq Protein:NP_203526, RefSeq Protein:NP_203527, RefSeq RNA:NM_021107, RefSeq RNA:NM_033362, RefSeq RNA:NM_033363, UCSC Genome Browser:NM_021107, UniProtKB:O15235 No chr19 39421348 39423660 38930708 38933020 +PA30998 63931 HGNC:14049 ENSG00000120333 mitochondrial ribosomal protein S14 MRPS14 HSMRPS14, uS14m Yes No Comparative Toxicogenomics Database:63931, Ensembl:ENSG00000120333, GenAtlas:MRPS14, GeneCard:MRPS14, HGNC:HGNC:14049, HumanCyc Gene:HS04396, ModBase:O60783, NCBI Gene:63931, OMIM:611978, RefSeq DNA:NT_004487, RefSeq Protein:NP_071383, RefSeq RNA:NM_022100, RefSeq RNA:NR_037606, UCSC Genome Browser:NM_022100, UniProtKB:O60783 No chr1 174982094 174992591 175012958 175023455 +PA30999 64960 HGNC:14504 ENSG00000116898 mitochondrial ribosomal protein S15 MRPS15 FLJ11564, uS15m Yes No Comparative Toxicogenomics Database:64960, Ensembl:ENSG00000116898, GenAtlas:MRPS15, GeneCard:MRPS15, HGNC:HGNC:14504, HumanCyc Gene:HS04067, ModBase:P82914, NCBI Gene:64960, OMIM:611979, RefSeq DNA:NT_032977, RefSeq Protein:NP_112570, RefSeq RNA:NM_031280, UCSC Genome Browser:NM_031280, UniProtKB:P82914 No chr1 36921362 36930040 36455761 36464439 +PA31000 51021 HGNC:14048 ENSG00000182180 mitochondrial ribosomal protein S16 MRPS16 CGI-132, bS16m Yes No Comparative Toxicogenomics Database:51021, Ensembl:ENSG00000182180, GenAtlas:MRPS16, GeneCard:MRPS16, HGNC:HGNC:14048, HumanCyc Gene:HS09376, ModBase:Q9Y3D3, NCBI Gene:51021, OMIM:609204, OMIM:610498, RefSeq DNA:NG_008096, RefSeq DNA:NT_030059, RefSeq Protein:NP_057149, RefSeq RNA:NM_016065, UCSC Genome Browser:NM_016065, UniProtKB:Q9Y3D3 No chr10 75008601 75012451 73248843 73252693 +PA134939473 137406 HGNC:29732 ENSG00000229182 mitochondrial ribosomal protein S16 pseudogene 1 MRPS16P1 Yes No Ensembl:ENSG00000229182, GeneCard:MRPS16P1, HGNC:HGNC:29732, NCBI Gene:137406, RefSeq DNA:NG_002648, RefSeq DNA:NT_008046 No chr8 92929735 92930150 91917507 91917922 +PA31001 128609 HGNC:16541 ENSG00000232925 mitochondrial ribosomal protein S16 pseudogene 2 MRPS16P2 bA379F14.1 Yes No Ensembl:ENSG00000232925, GenAtlas:MRPS16P, GeneCard:MRPS16P, HGNC:HGNC:16541, NCBI Gene:128609, RefSeq DNA:NG_000968, RefSeq DNA:NT_011362 No chr20 57688130 57688987 59113075 59113932 +PA134873145 338388 HGNC:29733 ENSG00000226336 mitochondrial ribosomal protein S16 pseudogene 3 MRPS16P3 Yes No Ensembl:ENSG00000226336, GeneCard:MRPS16P3, HGNC:HGNC:29733, NCBI Gene:338388, RefSeq DNA:NG_002649, RefSeq DNA:NT_011520 No chr22 36099812 36100221 35703765 35704174 +PA31002 51373 HGNC:14047 ENSG00000239789 mitochondrial ribosomal protein S17 MRPS17 28S ribosomal protein S17, mitochondrial HSPC011, MRP-S17, RPMS17, uS17m Yes No Comparative Toxicogenomics Database:51373, Ensembl:ENSG00000239789, GenAtlas:MRPS17, GeneCard:MRPS17, HGNC:HGNC:14047, HumanCyc Gene:HS08021, ModBase:Q9Y2R5, NCBI Gene:51373, OMIM:611980, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_057053, RefSeq RNA:NM_015969, UCSC Genome Browser:NM_015969, UniProtKB:Q9Y2R5 No chr7 56019611 56023034 55951918 55955341 +PA142671329 359803 HGNC:29734 ENSG00000268949 mitochondrial ribosomal protein S17 pseudogene 1 MRPS17P1 Yes No Ensembl:ENSG00000268949, GeneCard:MRPS17P1, HGNC:HGNC:29734, NCBI Gene:359803, RefSeq DNA:NG_004092, RefSeq DNA:NT_032977 No chr1 45457349 45457925 44991677 44992253 +PA142671330 342776 HGNC:29735 mitochondrial ribosomal protein S17 pseudogene 7 MRPS17P7 Yes No GeneCard:MRPS17P7, HGNC:HGNC:29735, NCBI Gene:342776, RefSeq DNA:NG_004091, RefSeq DNA:NT_025028 No chr18 55430952 55431450 57763720 57764218 +PA31003 55168 HGNC:14515 ENSG00000096080 mitochondrial ribosomal protein S18A MRPS18A FLJ10548, MRPS18-3, mL66 Yes No Ensembl:ENSG00000096080, GenAtlas:MRPS18A, GeneCard:MRPS18A, HGNC:HGNC:14515, HumanCyc Gene:HS01845, ModBase:Q9NVS2, NCBI Gene:55168, OMIM:611981, RefSeq DNA:NT_007592, RefSeq Protein:NP_001180272, RefSeq Protein:NP_060605, RefSeq RNA:NM_001193343, RefSeq RNA:NM_018135, UCSC Genome Browser:NM_018135, UniProtKB:Q9NVS2 No chr6 43638934 43655549 43671197 43687812 +PA31004 28973 HGNC:14516 ENSG00000203624, ENSG00000204568, ENSG00000223775, ENSG00000226111, ENSG00000227420, ENSG00000229861, ENSG00000233813 mitochondrial ribosomal protein S18B MRPS18B C6orf14, HSPC183, MRPS18-2, PTD017, mS40 Yes No Comparative Toxicogenomics Database:28973, Ensembl:ENSG00000203624, Ensembl:ENSG00000204568, Ensembl:ENSG00000223775, Ensembl:ENSG00000226111, Ensembl:ENSG00000227420, Ensembl:ENSG00000229861, Ensembl:ENSG00000233813, GenAtlas:MRPS18B, GeneCard:MRPS18B, HGNC:HGNC:14516, HumanCyc Gene:HS06316, ModBase:Q9Y676, NCBI Gene:28973, OMIM:611982, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_054765, RefSeq RNA:NM_014046, UCSC Genome Browser:NM_014046, UniProtKB:B0S7P4, UniProtKB:Q9Y676 No chr6 30585275 30594174 30617709 30626397 +PA31005 51023 HGNC:16633 ENSG00000163319 mitochondrial ribosomal protein S18C MRPS18C CGI-134, FLJ11146, FLJ22967, MRPS18-1, bS18m Yes No Comparative Toxicogenomics Database:51023, Ensembl:ENSG00000163319, GenAtlas:MRPS18C, GeneCard:MRPS18C, HGNC:HGNC:16633, HumanCyc Gene:HS08826, ModBase:Q9Y3D5, NCBI Gene:51023, OMIM:611983, RefSeq DNA:NT_016354, RefSeq Protein:NP_057151, RefSeq RNA:NM_016067, UCSC Genome Browser:NM_016067, UniProtKB:Q9Y3D5 No chr4 84377085 84382929 83455932 83461723 +PA134935427 286043 HGNC:29743 mitochondrial ribosomal protein S18C pseudogene 2 MRPS18CP2 Yes No GeneCard:MRPS18CP2, HGNC:HGNC:29743, NCBI Gene:286043, RefSeq DNA:NG_002666, RefSeq DNA:NT_077531 No chr8 8791228 8791520 8933678 8934091 +PA134925578 349842 HGNC:29745 ENSG00000255763 mitochondrial ribosomal protein S18C pseudogene 4 MRPS18CP4 Yes No Ensembl:ENSG00000255763, GeneCard:MRPS18CP4, HGNC:HGNC:29745, NCBI Gene:349842, RefSeq DNA:NG_002839, RefSeq DNA:NT_009714 No chr12 14390195 14390258 14237261 14237324 +PA134918139 343901 HGNC:29747 ENSG00000228807 mitochondrial ribosomal protein S18C pseudogene 6 MRPS18CP6 Yes No Ensembl:ENSG00000228807, GeneCard:MRPS18CP6, HGNC:HGNC:29747, NCBI Gene:343901, RefSeq DNA:NG_002835, RefSeq DNA:NT_011520 No chr22 44879324 44879608 44483442 44483723 +PA31007 51116 HGNC:14495 ENSG00000122140 mitochondrial ribosomal protein S2 MRPS2 CGI-91, uS2m Yes No Comparative Toxicogenomics Database:51116, Ensembl:ENSG00000122140, GenAtlas:MRPS2, GeneCard:MRPS2, HGNC:HGNC:14495, HumanCyc Gene:HS04549, ModBase:Q9Y399, NCBI Gene:51116, OMIM:611971, RefSeq DNA:NT_019501, RefSeq Protein:NP_057118, RefSeq RNA:NM_016034, UCSC Genome Browser:NM_016034, UniProtKB:Q9Y399 No chr9 138392477 138396519 135499989 135504673 +PA31009 54460 HGNC:14046 ENSG00000266472 mitochondrial ribosomal protein S21 MRPS21 bS21m Yes No Comparative Toxicogenomics Database:54460, Ensembl:ENSG00000266472, GenAtlas:MRPS21, GeneCard:MRPS21, HGNC:HGNC:14046, HumanCyc Gene:HS09752, ModBase:P82921, NCBI Gene:54460, OMIM:611984, RefSeq DNA:NT_004487, RefSeq Protein:NP_061870, RefSeq Protein:NP_114107, RefSeq RNA:NM_018997, RefSeq RNA:NM_031901, UCSC Genome Browser:NM_018997, UniProtKB:P82921, UniProtKB:Q5TB11 No chr1 150266262 150281414 150293842 150308979 +PA134893474 199900 HGNC:29748 ENSG00000234496 mitochondrial ribosomal protein S21 pseudogene 1 MRPS21P1 Yes No Ensembl:ENSG00000234496, GeneCard:MRPS21P1, HGNC:HGNC:29748, NCBI Gene:199900, RefSeq DNA:NG_002663, RefSeq DNA:NT_032977 No chr1 65557885 65558368 65092202 65092685 +PA143485547 359766 HGNC:29749 ENSG00000227425 mitochondrial ribosomal protein S21 pseudogene 2 MRPS21P2 Yes No Ensembl:ENSG00000227425, GeneCard:MRPS21P2, HGNC:HGNC:29749, NCBI Gene:359766, RefSeq DNA:NG_002882, RefSeq DNA:NT_004487 No chr1 157830929 157831406 157861139 157861616 +PA143485548 359767 HGNC:29750 ENSG00000221879 mitochondrial ribosomal protein S21 pseudogene 3 MRPS21P3 Yes No Ensembl:ENSG00000221879, GeneCard:MRPS21P3, HGNC:HGNC:29750, NCBI Gene:359767, RefSeq DNA:NG_002883, RefSeq DNA:NT_004487 No chr1 197332914 197333342 197363784 197364212 +PA143485549 359768 HGNC:29751 mitochondrial ribosomal protein S21 pseudogene 4 MRPS21P4 Yes No GeneCard:MRPS21P4, HGNC:HGNC:29751, NCBI Gene:359768, RefSeq DNA:NG_002884, RefSeq DNA:NT_008413 No chr9 36410487 36410631 36410490 36410634 +PA143485550 359769 HGNC:29752 ENSG00000226395 mitochondrial ribosomal protein S21 pseudogene 5 MRPS21P5 Yes No Ensembl:ENSG00000226395, GeneCard:MRPS21P5, HGNC:HGNC:29752, NCBI Gene:359769, RefSeq DNA:NG_002885, RefSeq DNA:NT_008705 No chr10 28293595 28293864 28004666 28004935 +PA143485551 359770 HGNC:29753 ENSG00000214298 mitochondrial ribosomal protein S21 pseudogene 6 MRPS21P6 Yes No Ensembl:ENSG00000214298, GeneCard:MRPS21P6, HGNC:HGNC:29753, NCBI Gene:359770, RefSeq DNA:NG_002886, RefSeq DNA:NT_030059 No chr10 126855188 126855665 125166619 125167096 +PA143485552 359771 HGNC:29754 ENSG00000260024 mitochondrial ribosomal protein S21 pseudogene 7 MRPS21P7 Yes No Ensembl:ENSG00000260024, GeneCard:MRPS21P7, HGNC:HGNC:29754, NCBI Gene:359771, RefSeq DNA:NG_002887, RefSeq DNA:NT_010498 No chr16 49741912 49742171 49708001 49708260 +PA134907336 350297 HGNC:29755 ENSG00000259978 mitochondrial ribosomal protein S21 pseudogene 8 MRPS21P8 Yes No Ensembl:ENSG00000259978, GeneCard:MRPS21P8, HGNC:HGNC:29755, NCBI Gene:350297, RefSeq DNA:NG_002840, RefSeq DNA:NT_010498 No chr16 49798364 49798623 49764453 49764712 +PA143485553 359772 HGNC:29756 ENSG00000262759 mitochondrial ribosomal protein S21 pseudogene 9 MRPS21P9 Yes No Ensembl:ENSG00000262759, GeneCard:MRPS21P9, HGNC:HGNC:29756, NCBI Gene:359772, RefSeq DNA:NG_002888, RefSeq DNA:NT_010783 No chr17 48527830 48528096 50450469 50450735 +PA31010 56945 HGNC:14508 ENSG00000175110 mitochondrial ribosomal protein S22 MRPS22 C3orf5, GIBT, GK002, MRP-S22, mS22 Yes No Comparative Toxicogenomics Database:56945, Ensembl:ENSG00000175110, GenAtlas:MRPS22, GeneCard:MRPS22, HGNC:HGNC:14508, HumanCyc Gene:HS10880, ModBase:P82650, NCBI Gene:56945, OMIM:605810, OMIM:611719, RefSeq DNA:NG_012174, RefSeq DNA:NT_005612, RefSeq Protein:NP_064576, RefSeq RNA:NM_020191, UCSC Genome Browser:NM_020191, UniProtKB:P82650 No chr3 139062861 139075888 139343994 139357129 +PA31011 51649 HGNC:14509 ENSG00000181610 mitochondrial ribosomal protein S23 MRPS23 CGI-138, HSPC329, MRP-S23, mS23 Yes No Comparative Toxicogenomics Database:51649, Ensembl:ENSG00000181610, GenAtlas:MRPS23, GeneCard:MRPS23, HGNC:HGNC:14509, HumanCyc Gene:HS17705, NCBI Gene:51649, OMIM:611985, RefSeq DNA:NT_010783, RefSeq Protein:NP_057154, RefSeq RNA:NM_016070, UCSC Genome Browser:NM_016070, UniProtKB:Q9Y3D9 No chr17 55916287 55927433 57838926 57850072 +PA134989527 352290 HGNC:29758 mitochondrial ribosomal protein S23 pseudogene 1 MRPS23P1 Yes No GeneCard:MRPS23P1, HGNC:HGNC:29758, NCBI Gene:352290, RefSeq DNA:NG_002844, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 44959186 44960089 44919587 44920490 +PA31012 64951 HGNC:14510 ENSG00000062582 mitochondrial ribosomal protein S24 MRPS24 HSPC335, MRP-S24 Yes No Ensembl:ENSG00000062582, GenAtlas:MRPS24, GeneCard:MRPS24, HGNC:HGNC:14510, HumanCyc Gene:HS00770, NCBI Gene:64951, OMIM:611986, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_114403, RefSeq RNA:NM_032014, UCSC Genome Browser:NM_032014, UniProtKB:Q96EL2 No chr7 43906157 43909145 43866558 43869546 +PA134957758 338389 HGNC:29759 mitochondrial ribosomal protein S24 pseudogene 1 MRPS24P1 Yes No GeneCard:MRPS24P1, HGNC:HGNC:29759, NCBI Gene:338389, RefSeq DNA:NG_002650, RefSeq DNA:NT_009237 No chr11 303710 304376 303710 304376 +PA31013 64432 HGNC:14511 ENSG00000131368 mitochondrial ribosomal protein S25 MRPS25 mitochondrial 28S ribosomal protein S25 DKFZp313H0817, FLJ00023, MRP-S25, RPMS25, mS25 Yes No Comparative Toxicogenomics Database:64432, Ensembl:ENSG00000131368, GenAtlas:MRPS25, GeneCard:MRPS25, HGNC:HGNC:14511, HumanCyc Gene:HS05514, ModBase:P82663, NCBI Gene:64432, OMIM:611987, RefSeq DNA:NT_022517, RefSeq Protein:NP_071942, RefSeq RNA:NM_022497, UCSC Genome Browser:NM_022497, UniProtKB:P82663 No chr3 15083758 15106839 15042251 15065337 +PA134942675 338390 HGNC:29760 mitochondrial ribosomal protein S25 pseudogene 1 MRPS25P1 Yes No GeneCard:MRPS25P1, HGNC:HGNC:29760, NCBI Gene:338390, RefSeq DNA:NG_002651, RefSeq DNA:NT_016354 No chr4 81242694 81243213 80321540 80322059 +PA31014 64949 HGNC:14045 ENSG00000125901 mitochondrial ribosomal protein S26 MRPS26 C20orf193, MRP-S13, MRP-S26, RPMS13, dJ534B8.3, mS26 Yes No Comparative Toxicogenomics Database:64949, Ensembl:ENSG00000125901, GenAtlas:MRPS26, GeneCard:MRPS26, HGNC:HGNC:14045, ModBase:Q9BYN8, NCBI Gene:64949, OMIM:611988, RefSeq DNA:NT_011387, RefSeq Protein:NP_110438, RefSeq RNA:NM_030811, UCSC Genome Browser:NM_030811, UniProtKB:Q9BYN8 No chr20 3026675 3028896 3046029 3048250 +PA31015 23107 HGNC:14512 ENSG00000113048 mitochondrial ribosomal protein S27 MRPS27 KIAA0264, mS27 Yes No Comparative Toxicogenomics Database:23107, Ensembl:ENSG00000113048, GenAtlas:MRPS27, GeneCard:MRPS27, HGNC:HGNC:14512, HumanCyc Gene:HS03642, ModBase:Q92552, NCBI Gene:23107, OMIM:611989, RefSeq DNA:NT_006713, RefSeq Protein:NP_055899, RefSeq RNA:NM_015084, UCSC Genome Browser:NM_015084, UniProtKB:Q92552 No chr5 71515236 71616084 72219409 72320257 +PA31016 28957 HGNC:14513 ENSG00000147586 mitochondrial ribosomal protein S28 MRPS28 HSPC007, MRP-S28, MRPS35 Yes No Comparative Toxicogenomics Database:28957, Ensembl:ENSG00000147586, GenAtlas:MRPS28, GeneCard:MRPS28, HGNC:HGNC:14513, HumanCyc Gene:HS07451, ModBase:Q9Y2Q9, NCBI Gene:28957, OMIM:611990, RefSeq DNA:NT_008183, RefSeq Protein:NP_054737, RefSeq RNA:NM_014018, UCSC Genome Browser:NM_014018, UniProtKB:Q9Y2Q9 No chr8 80830952 80942516 79918860 80030271 +PA31018 10884 HGNC:8769 ENSG00000112996 mitochondrial ribosomal protein S30 MRPS30 PAP, PDCD9, mL65 Yes No Ensembl:ENSG00000112996, GenAtlas:MRPS30, GeneCard:MRPS30, HGNC:HGNC:8769, HumanCyc Gene:HS03640, ModBase:Q9NP92, NCBI Gene:10884, OMIM:611991, RefSeq DNA:NT_006576, RefSeq Protein:NP_057724, RefSeq RNA:NM_016640, UCSC Genome Browser:NM_016640, UniProtKB:Q9NP92 No chr5 44809027 44815616 44808925 44815514 +PA31019 10240 HGNC:16632 ENSG00000102738 mitochondrial ribosomal protein S31 MRPS31 IMOGN38, mS31 Yes No Comparative Toxicogenomics Database:10240, Ensembl:ENSG00000102738, GenAtlas:MRPS31, GeneCard:MRPS31, HGNC:HGNC:16632, HumanCyc Gene:HS02405, NCBI Gene:10240, OMIM:611992, RefSeq DNA:NT_024524, RefSeq Protein:NP_005821, RefSeq RNA:NM_005830, UCSC Genome Browser:NM_005830, UniProtKB:Q92665 No chr13 41303432 41345347 40729296 40771220 +PA134898623 351449 HGNC:29763 ENSG00000275256 mitochondrial ribosomal protein S31 pseudogene 1 MRPS31P1 Yes No Ensembl:ENSG00000275256, GeneCard:MRPS31P1, HGNC:HGNC:29763, NCBI Gene:351449, RefSeq DNA:NG_002842, RefSeq DNA:NT_022517 No chr3 41230521 41230733 41189030 41189242 +PA31020 51650 HGNC:16634 ENSG00000090263 mitochondrial ribosomal protein S33 MRPS33 CGI-139, mS33 Yes No Ensembl:ENSG00000090263, GenAtlas:MRPS33, GeneCard:MRPS33, HGNC:HGNC:16634, HumanCyc Gene:HS01678, NCBI Gene:51650, OMIM:611993, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_057155, RefSeq Protein:NP_444263, RefSeq RNA:NM_016071, RefSeq RNA:NM_053035, UCSC Genome Browser:NM_016071, UniProtKB:A4D1T3, UniProtKB:Q3KRB4, UniProtKB:Q9Y291 No chr7 140705961 140714781 141006161 141014981 +PA134877083 148330 HGNC:29764 mitochondrial ribosomal protein S33 pseudogene 1 MRPS33P1 Yes No GeneCard:MRPS33P1, HGNC:HGNC:29764, NCBI Gene:148330, RefSeq DNA:NG_002830, RefSeq DNA:NT_004487 No chr1 154350428 154350594 154377852 154378218 +PA31021 65993 HGNC:16618 ENSG00000074071 mitochondrial ribosomal protein S34 MRPS34 MGC2616, MRP-S12, mS34 Yes No Comparative Toxicogenomics Database:65993, Ensembl:ENSG00000074071, GenAtlas:MRPS34, GeneCard:MRPS34, HGNC:HGNC:16618, HumanCyc Gene:HS01127, NCBI Gene:65993, OMIM:611994, RefSeq DNA:NT_010393, RefSeq Protein:NP_076425, RefSeq RNA:NM_023936, UCSC Genome Browser:NM_023936, UniProtKB:P82930 No chr16 1821891 1823152 1771889 1773151 +PA31022 60488 HGNC:16635 ENSG00000061794 mitochondrial ribosomal protein S35 MRPS35 MDS023, MRPS28, mS35 Yes No Comparative Toxicogenomics Database:60488, Ensembl:ENSG00000061794, GenAtlas:MRPS35, GeneCard:MRPS35, HGNC:HGNC:16635, HumanCyc Gene:HS00760, ModBase:Q9P1R5, NCBI Gene:60488, OMIM:611995, RefSeq DNA:NT_009714, RefSeq Protein:NP_001177793, RefSeq Protein:NP_068593, RefSeq RNA:NM_001190864, RefSeq RNA:NM_021821, UCSC Genome Browser:NM_021821, UniProtKB:P82673 No chr12 27863706 27909237 27710773 27756304 +PA134956687 339910 HGNC:29768 mitochondrial ribosomal protein S35 pseudogene 1 MRPS35P1 Yes No GeneCard:MRPS35P1, HGNC:HGNC:29768, NCBI Gene:339910, RefSeq DNA:NG_002832, RefSeq DNA:NT_022517 No chr3 5488662 5488789 5446976 5447103 +PA134974824 359779 HGNC:29770 ENSG00000270192 mitochondrial ribosomal protein S35 pseudogene 3 MRPS35P3 Yes No Ensembl:ENSG00000270192, GeneCard:MRPS35P3, HGNC:HGNC:29770, NCBI Gene:359779, RefSeq DNA:NG_002895, RefSeq DNA:NT_030059 No chr10 59742233 59742771 57982473 57983011 +PA142671319 347705 HGNC:29771 ENSG00000236152 mitochondrial ribosomal protein S36 pseudogene 1 MRPS36P1 Yes No Ensembl:ENSG00000236152, GeneCard:MRPS36P1, HGNC:HGNC:29771, NCBI Gene:347705, RefSeq DNA:NG_002709, RefSeq DNA:NT_022517 No chr3 6814724 6815033 6773037 6773346 +PA142671320 347706 HGNC:29772 ENSG00000249539 mitochondrial ribosomal protein S36 pseudogene 2 MRPS36P2 Yes No Ensembl:ENSG00000249539, GeneCard:MRPS36P2, HGNC:HGNC:29772, NCBI Gene:347706, RefSeq DNA:NG_002711, RefSeq DNA:NT_016354 No chr4 187821893 187821995 186900739 186900841 +PA142671321 347704 HGNC:29773 ENSG00000253814 mitochondrial ribosomal protein S36 pseudogene 3 MRPS36P3 Yes No Ensembl:ENSG00000253814, GeneCard:MRPS36P3, HGNC:HGNC:29773, NCBI Gene:347704, RefSeq DNA:NG_002707, RefSeq DNA:NT_008046 No chr8 123103709 123103841 122091470 122091602 +PA142671322 347702 HGNC:29774 ENSG00000255231 mitochondrial ribosomal protein S36 pseudogene 4 MRPS36P4 Yes No Ensembl:ENSG00000255231, GeneCard:MRPS36P4, HGNC:HGNC:29774, NCBI Gene:347702, RefSeq DNA:NG_002703, RefSeq DNA:NT_033899 No chr11 112079320 112079621 112208597 112208898 +PA142671323 347703 HGNC:29775 ENSG00000257927 mitochondrial ribosomal protein S36 pseudogene 5 MRPS36P5 Yes No Ensembl:ENSG00000257927, GeneCard:MRPS36P5, HGNC:HGNC:29775, NCBI Gene:347703, RefSeq DNA:NG_002705, RefSeq DNA:NT_029419 No chr12 43447886 43448187 43054083 43054384 +PA142671324 347707 HGNC:29776 mitochondrial ribosomal protein S36 pseudogene 6 MRPS36P6 Yes No GeneCard:MRPS36P6, HGNC:HGNC:29776, NCBI Gene:347707, RefSeq DNA:NG_002713, RefSeq DNA:NT_011387 No chr20 13386497 13386717 13405850 13406070 +PA31024 64969 HGNC:14498 ENSG00000144029 mitochondrial ribosomal protein S5 MRPS5 mitochondrial 28S ribosomal protein S5 MRP-S5, S5mt, uS5m Yes No Comparative Toxicogenomics Database:64969, Ensembl:ENSG00000144029, GenAtlas:MRPS5, GeneCard:MRPS5, HGNC:HGNC:14498, HumanCyc Gene:HS07138, ModBase:P82675, NCBI Gene:64969, OMIM:611972, RefSeq DNA:NT_022171, RefSeq Protein:NP_114108, RefSeq RNA:NM_031902, UCSC Genome Browser:NM_031902, UniProtKB:P82675 No chr2 95752952 95787754 95085391 95122027 +PA134935388 133615 HGNC:29778 ENSG00000214743 mitochondrial ribosomal protein S5 pseudogene 3 MRPS5P3 Yes No Ensembl:ENSG00000214743, GeneCard:MRPS5P3, HGNC:HGNC:29778, NCBI Gene:133615, RefSeq DNA:NG_002662, RefSeq DNA:NT_034772 No chr5 126478171 126479651 127142279 127143901 +PA134943586 359797 HGNC:29779 ENSG00000266915 mitochondrial ribosomal protein S5 pseudogene 4 MRPS5P4 Yes No Ensembl:ENSG00000266915, GeneCard:MRPS5P4, HGNC:HGNC:29779, NCBI Gene:359797, RefSeq DNA:NG_002900, RefSeq DNA:NT_025028 No chr18 58187067 58187404 60519834 60520171 +PA31025 64968 HGNC:14051 ENSG00000243927 mitochondrial ribosomal protein S6 MRPS6 C21orf101, MRP-S6, RPMS6, bS6m Yes No Comparative Toxicogenomics Database:64968, Ensembl:ENSG00000243927, GenAtlas:MRPS6, GeneCard:MRPS6, HGNC:HGNC:14051, ModBase:P82932, NCBI Gene:64968, OMIM:611973, RefSeq DNA:NT_011512, RefSeq Protein:NP_115865, RefSeq RNA:NM_032476, UCSC Genome Browser:NM_032476, UniProtKB:P82932 No chr21 35445823 35515334 34073523 34143034 +PA31026 51081 HGNC:14499 ENSG00000125445 mitochondrial ribosomal protein S7 MRPS7 MRP-S, RP-S7, RPMS7, uS7m Yes No Comparative Toxicogenomics Database:51081, Ensembl:ENSG00000125445, GenAtlas:MRPS7, GeneCard:MRPS7, HGNC:HGNC:14499, HumanCyc Gene:HS04886, ModBase:Q9Y2R9, NCBI Gene:51081, OMIM:611974, RefSeq DNA:NT_010783, RefSeq Protein:NP_057055, RefSeq RNA:NM_015971, UCSC Genome Browser:NM_015971, UniProtKB:Q9Y2R9 No chr17 73257749 73262457 75261668 75266376 +PA134964113 341469 HGNC:29784 mitochondrial ribosomal protein S7 pseudogene 2 MRPS7P2 Yes No GeneCard:MRPS7P2, HGNC:HGNC:29784, NCBI Gene:341469, RefSeq DNA:NG_002833, RefSeq DNA:NT_009714 No chr12 15956050 15957098 15803116 15804164 +PA31028 64965 HGNC:14501 ENSG00000135972 mitochondrial ribosomal protein S9 MRPS9 28S ribosomal protein S9, mitochondrial MRP-S9, RPMS9, S9mt, uS9m Yes No Ensembl:ENSG00000135972, GenAtlas:MRPS9, GeneCard:MRPS9, HGNC:HGNC:14501, ModBase:P82933, NCBI Gene:64965, OMIM:611975, RefSeq DNA:NT_022171, RefSeq Protein:NP_872578, RefSeq RNA:NM_182640, UCSC Genome Browser:NM_182640, UniProtKB:P82933 No chr2 105654483 105716418 105038025 105099960 +PA31029 92399 HGNC:7234 ENSG00000148187 mitochondrial ribosome recycling factor MRRF RRF Yes No Ensembl:ENSG00000148187, GenAtlas:MRRF, GeneCard:MRRF, HGNC:HGNC:7234, HumanCyc Gene:HS07498, ModBase:Q5T7T5, NCBI Gene:92399, OMIM:604602, RefSeq DNA:NT_008470, RefSeq Protein:NP_001166983, RefSeq Protein:NP_620132, RefSeq Protein:NP_954646, RefSeq RNA:NM_001173512, RefSeq RNA:NM_138777, RefSeq RNA:NM_199177, UCSC Genome Browser:NM_138777, UniProtKB:Q96E11 No chr9 125026882 125085743 122264603 122323464 +PA162396189 57380 HGNC:13785 ENSG00000124532 magnesium transporter MRS2 MRS2 MRS2 magnesium homeostasis factor homolog (S. cerevisiae), MRS2 magnesium transporter MRS2L Yes No Ensembl:ENSG00000124532, GeneCard:MRS2, HGNC:HGNC:13785, HumanCyc Gene:HS04788, ModBase:Q9HD23, NCBI Gene:57380, RefSeq DNA:NT_007592, RefSeq Protein:NP_065713, RefSeq RNA:NM_020662, UniProtKB:Q9HD23 No chr6 24403141 24425816 24402908 24426194 +PA30827 57591 HGNC:14334 ENSG00000196588 myocardin related transcription factor A MRTFA """basic, SAP and coiled-coil domain"", ""megakaryoblastic leukemia (translocation) 1"", ""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A""" BSAC, KIAA1438, MAL, MKL, MKL1, MRTF-A Yes No Comparative Toxicogenomics Database:57591, Ensembl:ENSG00000196588, GenAtlas:MKL1, GeneCard:MKL1, HGNC:HGNC:14334, ModBase:Q969V6, NCBI Gene:57591, OMIM:606078, RefSeq DNA:NT_011520, RefSeq Protein:NP_065882, RefSeq RNA:NM_020831, UCSC Genome Browser:NM_020831, UniProtKB:Q969V6 No chr22 40806292 41032690 40410281 40636719 +PA134981329 57496 HGNC:29819 ENSG00000186260 myocardin related transcription factor B MRTFB MKL/myocardin-like 2 FLJ31823, MKL2, MRTF-B Yes No Comparative Toxicogenomics Database:57496, Ensembl:ENSG00000186260, GeneCard:MKL2, HGNC:HGNC:29819, HumanCyc Gene:HS02500, NCBI Gene:57496, OMIM:609463, RefSeq DNA:NT_010393, RefSeq Protein:NP_054767, RefSeq RNA:NM_014048, UniProtKB:Q9ULH7 No chr16 14165178 14360633 14071076 14266779 +PA162396216 51154 HGNC:18477 ENSG00000053372 MRT4 homolog, ribosome maturation factor MRTO4 mRNA turnover 4 homolog (S. cerevisiae) C1orf33, MRT4, dJ657E11.4 Yes No Ensembl:ENSG00000053372, GeneCard:MRTO4, HGNC:HGNC:18477, HumanCyc Gene:HS00657, ModBase:Q9UKD2, NCBI Gene:51154, RefSeq DNA:NT_004610, RefSeq Protein:NP_057267, RefSeq RNA:NM_016183, UniProtKB:Q9UKD2 No chr1 19578075 19586622 19251581 19260128 +PA31111 931 HGNC:7315 ENSG00000156738 membrane spanning 4-domains A1 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 B1, Bp35, CD20, CD20 (previous symbol), FMC7, MS4A2 Yes No Ensembl:ENSG00000156738, GeneCard:MS4A1, HGNC:HGNC:7315, HumanCyc Gene:HS08151, NCBI Gene:931, OMIM:112210, RefSeq DNA:NG_023388, RefSeq DNA:NT_167190, RefSeq Protein:NP_068769, RefSeq Protein:NP_690605, RefSeq RNA:NM_021950, RefSeq RNA:NM_152866, UCSC Genome Browser:NM_021950, UniProtKB:P11836 No chr11 60223251 60238225 60455809 60470752 +PA31110 341116 HGNC:13368 ENSG00000172689 membrane spanning 4-domains A10 MS4A10 membrane-spanning 4-domains, subfamily A, member 10 CD20L7, MS4A9 Yes No Ensembl:ENSG00000172689, GenAtlas:MS4A10, GeneCard:MS4A10, HGNC:HGNC:13368, NCBI Gene:341116, OMIM:608403, RefSeq DNA:NT_167190, RefSeq Protein:NP_996776, RefSeq RNA:NM_206893, UniProtKB:Q96PG2 No chr11 60552821 60568778 60785332 60801305 +PA134971353 54860 HGNC:13370 ENSG00000071203 membrane spanning 4-domains A12 MS4A12 membrane-spanning 4-domains, subfamily A, member 12 FLJ20217, Ms4a10 Yes No Ensembl:ENSG00000071203, GeneCard:MS4A12, HGNC:HGNC:13370, HumanCyc Gene:HS12213, NCBI Gene:54860, OMIM:606550, RefSeq DNA:NT_167190, RefSeq Protein:NP_001157942, RefSeq Protein:NP_060186, RefSeq RNA:NM_001164470, RefSeq RNA:NM_017716, UniProtKB:Q9NXJ0 No chr11 60260251 60274903 60492743 60507430 +PA142671314 503497 HGNC:16674 ENSG00000204979 membrane spanning 4-domains A13 MS4A13 membrane-spanning 4-domains, subfamily A, member 13 Yes No Ensembl:ENSG00000204979, GeneCard:MS4A13, HGNC:HGNC:16674, NCBI Gene:503497, RefSeq DNA:NT_167190, RefSeq Protein:NP_001012417, RefSeq Protein:NP_001094379, RefSeq RNA:NM_001012417, RefSeq RNA:NM_001100909, UniProtKB:Q5J8X5 No chr11 60282886 60310194 60515382 60543424 +PA162396237 84689 HGNC:30706 ENSG00000166928 membrane spanning 4-domains A14 MS4A14 membrane-spanning 4-domains, subfamily A, member 14 DKFZp434H092, FLJ32856, MS4A16, NYD-SP21 Yes No Ensembl:ENSG00000166928, GeneCard:MS4A14, HGNC:HGNC:30706, HumanCyc Gene:HS15505, NCBI Gene:84689, RefSeq DNA:NT_167190, RefSeq Protein:NP_001073160, RefSeq Protein:NP_115986, RefSeq RNA:NM_001079692, RefSeq RNA:NM_032597, UniProtKB:Q96JA4 No chr11 60163487 60185229 60396014 60417756 +PA134959869 219995 HGNC:28573 ENSG00000166961 membrane spanning 4-domains A15 MS4A15 membrane-spanning 4-domains, subfamily A, member 15 Yes No Ensembl:ENSG00000166961, HGNC:HGNC:28573, ModBase:Q8N5U1, NCBI Gene:219995, RefSeq DNA:NT_033903, RefSeq Protein:NP_001092305, RefSeq Protein:NP_689930, RefSeq RNA:NM_001098835, RefSeq RNA:NM_152717, UniProtKB:Q8N5U1 No chr11 60524340 60544204 60756867 60776733 +PA165543479 728588 HGNC:37636 ENSG00000214782 membrane spanning 4-domains A18 MS4A18 membrane-spanning 4-domains, subfamily A, member 18 Yes No Ensembl:ENSG00000214782, GeneCard:MS4A18, HGNC:HGNC:37636, NCBI Gene:728588, RefSeq DNA:NT_167190, RefSeq Protein:XP_001714849, RefSeq Protein:XP_001715748, RefSeq Protein:XP_001716249, RefSeq RNA:XM_001714797, RefSeq RNA:XM_001715696, RefSeq RNA:XM_001716197 No chr11 60501077 60506416 60722909 60744213 +PA31109 2206 HGNC:7316 ENSG00000149534 membrane spanning 4-domains A2 MS4A2 """Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"", ""membrane-spanning 4-domains, subfamily A, member 2""" APY, FCER1B, IGER, MS4A1 Yes Yes Comparative Toxicogenomics Database:2206, Ensembl:ENSG00000149534, GeneCard:MS4A2, HGNC:HGNC:7316, HumanCyc Gene:HS07623, ModBase:Q01362, NCBI Gene:2206, OMIM:147050, OMIM:147138, RefSeq DNA:NG_016014, RefSeq DNA:NT_167190, RefSeq Protein:NP_000130, RefSeq Protein:NP_001135775, RefSeq RNA:NM_000139, RefSeq RNA:NM_001142303, UCSC Genome Browser:NM_000139, UniProtKB:C9JE66, UniProtKB:Q01362 No chr11 59855734 59865940 60088261 60098467 +PA31112 932 HGNC:7317 ENSG00000149516 membrane spanning 4-domains A3 MS4A3 membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) CD20L, HTM4 Yes No Ensembl:ENSG00000149516, GenAtlas:MS4A3, GeneCard:MS4A3, HGNC:HGNC:7317, HumanCyc Gene:HS07621, ModBase:Q96HJ5, NCBI Gene:932, OMIM:606498, RefSeq DNA:NT_167190, RefSeq Protein:NP_001026836, RefSeq Protein:NP_001026979, RefSeq Protein:NP_006129, RefSeq RNA:NM_001031666, RefSeq RNA:NM_001031809, RefSeq RNA:NM_006138, UCSC Genome Browser:NM_006138, UniProtKB:A8MTP8, UniProtKB:Q96HJ5 No chr11 59824101 59838588 60056628 60071116 +PA31113 51338 HGNC:13371 ENSG00000110079 membrane spanning 4-domains A4A MS4A4A membrane-spanning 4-domains, subfamily A, member 4A CD20L1, MS4A4, MS4A7 Yes No Ensembl:ENSG00000110079, GenAtlas:MS4A4A, GeneCard:MS4A4A, HGNC:HGNC:13371, HumanCyc Gene:HS03284, ModBase:Q96JQ5, NCBI Gene:51338, OMIM:606547, RefSeq DNA:NT_167190, RefSeq Protein:NP_076926, RefSeq Protein:NP_683876, RefSeq RNA:NM_024021, RefSeq RNA:NM_148975, UCSC Genome Browser:NM_024021, UniProtKB:Q96JQ5 No chr11 60048014 60076445 60280541 60308972 +PA31117 643680 HGNC:14284 ENSG00000214787 membrane spanning 4-domains A4E MS4A4E membrane-spanning 4-domains, subfamily A, member 4E Yes No Ensembl:ENSG00000214787, GenAtlas:MS4A4E, GeneCard:MS4A4E, HGNC:HGNC:14284, NCBI Gene:643680, OMIM:608401, RefSeq DNA:NT_167190, RefSeq Protein:XP_001718724, RefSeq Protein:XP_003119231, RefSeq Protein:XP_936979, RefSeq Protein:XP_948441, RefSeq RNA:XM_001718672, RefSeq RNA:XM_003119183, RefSeq RNA:XM_931886, RefSeq RNA:XM_943348 No chr11 59968726 60010575 60201253 60243124 +PA31118 64232 HGNC:13374 ENSG00000166930 membrane spanning 4-domains A5 MS4A5 membrane-spanning 4-domains, subfamily A, member 5 CD20L2 Yes No Ensembl:ENSG00000166930, GenAtlas:MS4A5, GeneCard:MS4A5, HGNC:HGNC:13374, HumanCyc Gene:HS09484, ModBase:Q9H3V2, NCBI Gene:64232, OMIM:606499, RefSeq DNA:NT_167190, RefSeq Protein:NP_076434, RefSeq RNA:NM_023945, UCSC Genome Browser:NM_023945, UniProtKB:Q9H3V2 No chr11 60197062 60215265 60429589 60447792 +PA31119 64231 HGNC:13375 ENSG00000110077 membrane spanning 4-domains A6A MS4A6A membrane-spanning 4-domains, subfamily A, member 6A CD20L3, MS4A6 Yes No Comparative Toxicogenomics Database:64231, Ensembl:ENSG00000110077, GenAtlas:MS4A6A, GeneCard:MS4A6A, HGNC:HGNC:13375, HumanCyc Gene:HS12714, ModBase:Q9HC76, NCBI Gene:64231, OMIM:606548, RefSeq DNA:NT_167190, RefSeq Protein:NP_071744, RefSeq Protein:NP_690590, RefSeq Protein:NP_690591, RefSeq RNA:NM_022349, RefSeq RNA:NM_152851, RefSeq RNA:NM_152852, UCSC Genome Browser:NM_022349, UniProtKB:Q9H2W1 No chr11 59939080 59952139 60171607 60184666 +PA31123 245802 HGNC:14285 ENSG00000166926 membrane spanning 4-domains A6E MS4A6E membrane-spanning 4-domains, subfamily A, member 6E Yes No Ensembl:ENSG00000166926, GenAtlas:MS4A6E, GeneCard:MS4A6E, HGNC:HGNC:14285, HumanCyc Gene:HS15504, ModBase:Q96DS6, NCBI Gene:245802, OMIM:608402, RefSeq DNA:NT_167190, RefSeq Protein:NP_640342, RefSeq RNA:NM_139249, UCSC Genome Browser:NM_139249, UniProtKB:Q96DS6 No chr11 60102355 60108441 60334882 60340968 +PA31124 58475 HGNC:13378 ENSG00000166927 membrane spanning 4-domains A7 MS4A7 membrane-spanning 4-domains, subfamily A, member 7 CD20L4, CFFM4, MS4A8 Yes No Comparative Toxicogenomics Database:58475, Ensembl:ENSG00000166927, GenAtlas:MS4A7, GeneCard:MS4A7, HGNC:HGNC:13378, HumanCyc Gene:HS09483, ModBase:Q9GZW8, NCBI Gene:58475, OMIM:606502, RefSeq DNA:NT_167190, RefSeq Protein:NP_067024, RefSeq Protein:NP_996821, RefSeq Protein:NP_996822, RefSeq Protein:NP_996823, RefSeq RNA:NM_021201, RefSeq RNA:NM_206938, RefSeq RNA:NM_206939, RefSeq RNA:NM_206940, UCSC Genome Browser:NM_021201, UniProtKB:A6NP53, UniProtKB:Q9GZW8 No chr11 60145949 60163427 60378485 60395954 +PA31126 83661 HGNC:13380 ENSG00000166959 membrane spanning 4-domains A8 MS4A8 membrane-spanning 4-domains, subfamily A, member 8 CD20L5, MS4A4, MS4A8B Yes No Comparative Toxicogenomics Database:83661, Ensembl:ENSG00000166959, GenAtlas:MS4A8B, GeneCard:MS4A8B, HGNC:HGNC:13380, HumanCyc Gene:HS09490, ModBase:Q9BY19, NCBI Gene:83661, OMIM:606549, RefSeq DNA:NT_167190, RefSeq Protein:NP_113645, RefSeq RNA:NM_031457, UCSC Genome Browser:NM_031457, UniProtKB:Q9BY19 No chr11 60467046 60483284 60699574 60715811 +PA162379942 345222 HGNC:33741 ENSG00000188981 Myb/SANT DNA binding domain containing 1 MSANTD1 Myb/SANT-like DNA-binding domain containing 1 C4orf44, LOC345222 Yes No Ensembl:ENSG00000188981, GeneCard:C4orf44, HGNC:HGNC:33741, NCBI Gene:345222, RefSeq DNA:NT_006051, RefSeq Protein:NP_001013000, RefSeq Protein:NP_001036155, RefSeq RNA:NM_001012982, RefSeq RNA:NM_001042690, UniProtKB:Q6ZTZ1 No chr4 3250766 3273465 3243728 3256615 +PA143485356 79684 HGNC:26266 ENSG00000120458 Myb/SANT DNA binding domain containing 2 MSANTD2 Myb/SANT-like DNA-binding domain containing 2 C11orf61, FLJ23342 Yes No Ensembl:ENSG00000120458, GeneCard:C11orf61, HGNC:HGNC:26266, HumanCyc Gene:HS12989, ModBase:Q6P1R3, NCBI Gene:79684, RefSeq DNA:NT_033899, RefSeq Protein:NP_078907, RefSeq RNA:NM_024631, UniProtKB:Q6P1R3 No chr11 124636388 124670868 124766492 124800879 +PA142672311 91283 HGNC:23370 ENSG00000066697 Myb/SANT DNA binding domain containing 3 MSANTD3 Myb/SANT-like DNA-binding domain containing 3 C9orf30, MGC17337 Yes No Ensembl:ENSG00000066697, GeneCard:C9orf30, HGNC:HGNC:23370, HumanCyc Gene:HS15292, ModBase:Q96H12, NCBI Gene:91283, RefSeq DNA:NT_008470, RefSeq Protein:NP_001185734, RefSeq Protein:NP_001185735, RefSeq Protein:NP_001185736, RefSeq Protein:NP_542386, RefSeq RNA:NM_001198805, RefSeq RNA:NM_001198806, RefSeq RNA:NM_001198807, RefSeq RNA:NM_080655, UniProtKB:Q96H12 No chr9 103189495 103214016 100427213 100451734 +PA143485519 84437 HGNC:29383 ENSG00000170903 Myb/SANT DNA binding domain containing 4 with coiled-coils MSANTD4 Myb/SANT-like DNA-binding domain containing 4 with coiled-coils KIAA1826 Yes No Ensembl:ENSG00000170903, GeneCard:KIAA1826, HGNC:HGNC:29383, ModBase:Q8NCY6, NCBI Gene:84437, RefSeq DNA:NT_033899, RefSeq Protein:NP_115800, RefSeq RNA:NM_032424, UniProtKB:Q8NCY6 No chr11 105878629 105892981 106007920 106022287 +PA166351971 102724657 HGNC:55184 Myb/SANT DNA binding domain containing 5 MSANTD5 Yes No HGNC:HGNC:55184, NCBI Gene:102724657 No 0 0 0 0 +PA166351972 100421372 HGNC:56248 Myb/SANT DNA binding domain containing 7 MSANTD7 Yes No HGNC:HGNC:56248, NCBI Gene:100421372 No 0 0 0 0 +PA31127 4431 HGNC:7318 minisatellite binding protein 1 MSBP1 Yes No GenAtlas:MSBP1, GeneCard:MSBP1, HGNC:HGNC:7318, NCBI Gene:4431 No +PA31128 4432 HGNC:7319 minisatellite binding protein 2, 77kDa MSBP2 Yes No GenAtlas:MSBP2, GeneCard:MSBP2, HGNC:HGNC:7319, NCBI Gene:4432 No +PA31130 9242 HGNC:7321 ENSG00000178860 musculin MSC activated B-cell factor-1 ABF-1, bHLHa22 Yes No Comparative Toxicogenomics Database:9242, Ensembl:ENSG00000178860, GenAtlas:MSC, GeneCard:MSC, HGNC:HGNC:7321, HumanCyc Gene:HS11324, ModBase:O60682, NCBI Gene:9242, OMIM:603628, RefSeq DNA:NT_008183, RefSeq Protein:NP_005089, RefSeq RNA:NM_005098, UCSC Genome Browser:NM_005098, UniProtKB:O60682 No chr8 72753777 72756731 71841542 71844496 +PA142671315 343930 HGNC:14907 ENSG00000151379 mesogenin 1 MSGN1 paraxial mesogenin pMesogenin1 Yes No Comparative Toxicogenomics Database:343930, Ensembl:ENSG00000151379, GeneCard:MSGN1, HGNC:HGNC:14907, ModBase:A6NI15, NCBI Gene:343930, OMIM:612209, RefSeq DNA:NT_015926, RefSeq Protein:NP_001099039, RefSeq RNA:NM_001105569, UniProtKB:A6NI15 No chr2 17997786 17998367 17816519 17817100 +PA31133 4436 HGNC:7325 ENSG00000095002 mutS homolog 2 MSH2 """DNA mismatch repair protein Msh2"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)""" COCA1, HNPCC, HNPCC1, MSH-2 Yes Yes Comparative Toxicogenomics Database:4436, Ensembl:ENSG00000095002, GenAtlas:MSH2, GeneCard:MSH2, HGNC:HGNC:7325, HumanCyc Gene:HS01808, ModBase:P43246, NCBI Gene:4436, OMIM:114030, OMIM:120435, OMIM:137800, OMIM:158320, OMIM:162200, OMIM:276300, OMIM:609309, RefSeq DNA:NG_007110, RefSeq DNA:NT_022184, RefSeq Protein:NP_000242, RefSeq RNA:NM_000251, UCSC Genome Browser:NM_000251, UniProtKB:P43246 No chr2 47630206 47739716 47403067 47634501 +PA31134 4437 HGNC:7326 ENSG00000113318 mutS homolog 3 MSH3 Divergent upstream protein, Mismatch repair protein 1, mutS homolog 3 (E. coli) DUP Yes Yes Comparative Toxicogenomics Database:4437, Ensembl:ENSG00000113318, GenAtlas:MSH3, GeneCard:MSH3, HGNC:HGNC:7326, HumanCyc Gene:HS03669, ModBase:P20585, NCBI Gene:4437, OMIM:600887, RefSeq DNA:NG_016607, RefSeq DNA:NT_006713, RefSeq Protein:NP_002430, RefSeq RNA:NM_002439, UCSC Genome Browser:NM_002439, UniProtKB:P20585 No chr5 79950467 80172634 80654648 80876815 +PA31135 4438 HGNC:7327 ENSG00000057468 mutS homolog 4 MSH4 mutS homolog 4 (E. coli) Yes No Ensembl:ENSG00000057468, GenAtlas:MSH4, GeneCard:MSH4, HGNC:HGNC:7327, HumanCyc Gene:HS00708, ModBase:O15457, NCBI Gene:4438, OMIM:602105, RefSeq DNA:NT_032977, RefSeq Protein:NP_002431, RefSeq RNA:NM_002440, UCSC Genome Browser:NM_002440, UniProtKB:O15457 No chr1 76262556 76379581 75796871 75913238 +PA31136 4439 HGNC:7328 ENSG00000204410, ENSG00000227314, ENSG00000230293, ENSG00000235222, ENSG00000255152 mutS homolog 5 MSH5 mutS homolog 5 (E. coli) G7 Yes Yes Comparative Toxicogenomics Database:4439, Ensembl:ENSG00000204410, Ensembl:ENSG00000227314, Ensembl:ENSG00000230293, Ensembl:ENSG00000235222, Ensembl:ENSG00000255152, GenAtlas:MSH5, GeneCard:MSH5, HGNC:HGNC:7328, HumanCyc Gene:HS01865, ModBase:O43196, NCBI Gene:4439, OMIM:603382, RefSeq DNA:NG_011611, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002432, RefSeq Protein:NP_079535, RefSeq Protein:NP_751897, RefSeq Protein:NP_751898, RefSeq RNA:NM_002441, RefSeq RNA:NM_025259, RefSeq RNA:NM_172165, RefSeq RNA:NM_172166, UCSC Genome Browser:NM_002441, UCSC Genome Browser:NM_025259, UniProtKB:O43196 No chr6 31707725 31730455 31739948 31762678 +PA184 2956 HGNC:7329 ENSG00000116062 mutS homolog 6 MSH6 mutS homolog 6 (E. coli) GTBP, MSH-6 Yes Yes Comparative Toxicogenomics Database:2956, Ensembl:ENSG00000116062, GenAtlas:MSH6, GeneCard:MSH6, HGNC:HGNC:7329, HumanCyc Gene:HS03977, ModBase:P52701, NCBI Gene:2956, OMIM:276300, OMIM:600678, OMIM:604370, OMIM:608089, RefSeq DNA:NG_007111, RefSeq DNA:NT_022184, RefSeq Protein:NP_000170, RefSeq RNA:NM_000179, UCSC Genome Browser:NM_000179, UniProtKB:P52701, UniProtKB:Q3SWU9 No chr2 48010221 48034092 47783082 47806953 +PA31137 4440 HGNC:7330 ENSG00000135097 musashi RNA binding protein 1 MSI1 musashi RNA-binding protein 1 Yes No Comparative Toxicogenomics Database:4440, Ensembl:ENSG00000135097, GenAtlas:MSI1, GeneCard:MSI1, HGNC:HGNC:7330, HumanCyc Gene:HS05953, ModBase:O43347, NCBI Gene:4440, OMIM:603328, RefSeq DNA:NT_009775, RefSeq Protein:NP_002433, RefSeq RNA:NM_002442, UCSC Genome Browser:NM_002442, UniProtKB:B3KN16, UniProtKB:O43347 No chr12 120779133 120806983 120339655 120369180 +PA38590 124540 HGNC:18585 ENSG00000153944 musashi RNA binding protein 2 MSI2 musashi RNA-binding protein 2 Yes No Comparative Toxicogenomics Database:124540, Ensembl:ENSG00000153944, GenAtlas:MSI2, GeneCard:MSI2, HGNC:HGNC:18585, HumanCyc Gene:HS07934, ModBase:Q96DH6, NCBI Gene:124540, OMIM:607897, RefSeq DNA:NT_010783, RefSeq Protein:NP_620412, RefSeq Protein:NP_733839, RefSeq RNA:NM_138962, RefSeq RNA:NM_170721, UCSC Genome Browser:NM_138962, UniProtKB:Q96DH6 No chr17 55333931 55762050 57255851 57684689 +PA164723127 339287 HGNC:27905 ENSG00000188895 MSL complex subunit 1 MSL1 male-specific lethal 1 homolog (Drosophila) DKFZp686P24239, MSL-1, hMSL1 Yes No Ensembl:ENSG00000188895, GeneCard:MSL1, HGNC:HGNC:27905, NCBI Gene:339287, RefSeq DNA:NT_010783, RefSeq Protein:NP_001012241, RefSeq RNA:NM_001012241, UniProtKB:B3KWR7, UniProtKB:Q68DK7 No chr17 38278235 38293047 40121409 40136789 +PA164723152 55167 HGNC:25544 ENSG00000174579 MSL complex subunit 2 MSL2 male-specific lethal 2 homolog (Drosophila), male-specific lethal-2 homolog (Drosophila) FLJ10546, KIAA1585, MSL2L1, RNF184, msl-2 Yes No Comparative Toxicogenomics Database:55167, Ensembl:ENSG00000174579, GeneCard:MSL2, HGNC:HGNC:25544, ModBase:Q9HCI7, NCBI Gene:55167, RefSeq DNA:NT_005612, RefSeq Protein:NP_001138889, RefSeq Protein:NP_060603, RefSeq RNA:NM_001145417, RefSeq RNA:NM_018133, UniProtKB:Q9HCI7 No chr3 135867760 135915522 136148918 136197300 +PA164723161 10943 HGNC:7370 ENSG00000005302 MSL complex subunit 3 MSL3 male-specific lethal 3 homolog (Drosophila) MSL3L1 Yes No Ensembl:ENSG00000005302, GeneCard:MSL3, HGNC:HGNC:7370, HumanCyc Gene:HS00137, ModBase:Q8N5Y2, NCBI Gene:10943, OMIM:300609, RefSeq DNA:NG_012564, RefSeq DNA:NT_167197, RefSeq Protein:NP_001180199, RefSeq Protein:NP_006791, RefSeq Protein:NP_523352, RefSeq Protein:NP_523353, RefSeq Protein:NP_523354, RefSeq RNA:NM_001193270, RefSeq RNA:NM_006800, RefSeq RNA:NM_078628, RefSeq RNA:NM_078629, RefSeq RNA:NM_078630, UniProtKB:A6NCU2, UniProtKB:A6NHW8, UniProtKB:Q8N5Y2 No chrX 11776278 11793872 11758159 11775753 +PA31175 151507 HGNC:17837 ENSG00000224287 MSL complex subunit 3B MSL3B male-specific lethal 3 homolog (Drosophila) pseudogene 1 MSL3L2, MSL3P1 Yes No Ensembl:ENSG00000224287, GenAtlas:MSL3L2, GeneCard:MSL3P1, HGNC:HGNC:17837, ModBase:P0C860, NCBI Gene:151507, RefSeq DNA:NT_005120, RefSeq RNA:NR_024322 No chr2 234774083 234777055 233865437 233868409 +PA31176 10232 HGNC:7371 ENSG00000102854 mesothelin MSLN CAK1, MPF Yes No Comparative Toxicogenomics Database:10232, Ensembl:ENSG00000102854, GenAtlas:MSLN, GeneCard:MSLN, HGNC:HGNC:7371, HumanCyc Gene:HS02416, ModBase:Q9UK57, NCBI Gene:10232, OMIM:601051, RefSeq DNA:NT_010393, RefSeq Protein:NP_001170826, RefSeq Protein:NP_005814, RefSeq Protein:NP_037536, RefSeq RNA:NM_001177355, RefSeq RNA:NM_005823, RefSeq RNA:NM_013404, UCSC Genome Browser:NM_005823, UniProtKB:Q13421 No chr16 810765 818865 760746 768865 +PA162396252 401827 HGNC:14170 ENSG00000162006 mesothelin-like MSLNL MPFL Yes No Ensembl:ENSG00000162006, GeneCard:MSLNL, HGNC:HGNC:14170, NCBI Gene:401827, RefSeq DNA:NT_010393, RefSeq Protein:NP_001020361, RefSeq RNA:NM_001025190, UniProtKB:Q96KJ4 No chr16 819428 831996 769428 781996 +PA31177 4477 HGNC:7372 ENSG00000263639 microseminoprotein beta MSMB """beta-microseminoprotein"", ""microseminoprotein, beta-""" IGBF, MSP, MSPB, PN44, PRPS, PSP, PSP-94, PSP57, PSP94 Yes No Comparative Toxicogenomics Database:4477, Ensembl:ENSG00000263639, GenAtlas:MSMB, GeneCard:MSMB, HGNC:HGNC:7372, HumanCyc Gene:HS06480, ModBase:P08118, NCBI Gene:4477, OMIM:157145, OMIM:611928, RefSeq DNA:NG_011551, RefSeq DNA:NT_030059, RefSeq Protein:NP_002434, RefSeq Protein:NP_619540, RefSeq RNA:NM_002443, RefSeq RNA:NM_138634, UCSC Genome Browser:NM_002443, UniProtKB:P08118 No chr10 51549553 51562517 46033305 46046269 +PA34955 6307 HGNC:10545 ENSG00000052802 methylsterol monooxygenase 1 MSMO1 DESP4, ERG25, SC4MOL Yes No Comparative Toxicogenomics Database:6307, Ensembl:ENSG00000052802, GenAtlas:SC4MOL, GeneCard:SC4MOL, HGNC:HGNC:10545, HumanCyc Gene:HS00650, NCBI Gene:6307, OMIM:607545, RefSeq DNA:NT_016354, RefSeq Protein:NP_001017369, RefSeq Protein:NP_006736, RefSeq RNA:NM_001017369, RefSeq RNA:NM_006745, UCSC Genome Browser:NM_006745, UniProtKB:A8MYF6, UniProtKB:Q15800 No chr4 166248818 166264316 165327666 165343164 +PA164723190 692094 HGNC:29663 ENSG00000215183 microseminoprotein, prostate associated MSMP PC-3, PSMP Yes No Ensembl:ENSG00000215183, GeneCard:MSMP, HGNC:HGNC:29663, NCBI Gene:692094, OMIM:612191, RefSeq DNA:NT_008413, RefSeq Protein:NP_001037729, RefSeq RNA:NM_001044264, UniProtKB:Q1L6U9 No chr9 35752987 35754274 35752990 35754277 +PA31178 4478 HGNC:7373 ENSG00000147065 moesin MSN Yes No Comparative Toxicogenomics Database:4478, Ensembl:ENSG00000147065, GenAtlas:MSN, GeneCard:MSN, HGNC:HGNC:7373, HumanCyc Gene:HS07387, ModBase:P26038, NCBI Gene:4478, OMIM:309845, RefSeq DNA:NG_012516, RefSeq DNA:NT_011669, RefSeq Protein:NP_002435, RefSeq RNA:NM_002444, UCSC Genome Browser:NM_002444, UniProtKB:P26038 No chrX 64808257 64961793 65588382 65741931 +PA166351973 HGNC:7375 moesin-like 2 MSNL2 Yes No HGNC:HGNC:7375 No 0 0 0 0 +PA31179 4479 HGNC:7374 ENSG00000251593 moesin pseudogene 1 MSNP1 Yes No Ensembl:ENSG00000251593, GenAtlas:MSNL1, GeneCard:MSNP1, HGNC:HGNC:7374, NCBI Gene:4479, RefSeq DNA:NG_003032, RefSeq DNA:NT_006576 No chr5 25909416 25913387 25909307 25913278 +PA31181 4481 HGNC:7376 ENSG00000038945 macrophage scavenger receptor 1 MSR1 CD204, SCARA1, SR-A, SR-AI, SR-AII, SR-AIII Yes No Comparative Toxicogenomics Database:4481, Ensembl:ENSG00000038945, GenAtlas:MSR1, GeneCard:MSR1, HGNC:HGNC:7376, HumanCyc Gene:HS00537, ModBase:P21757, NCBI Gene:4481, OMIM:153622, OMIM:176807, RefSeq DNA:NG_012102, RefSeq DNA:NT_167187, RefSeq Protein:NP_002436, RefSeq Protein:NP_619729, RefSeq Protein:NP_619730, RefSeq RNA:NM_002445, RefSeq RNA:NM_138715, RefSeq RNA:NM_138716, UCSC Genome Browser:NM_002445, UniProtKB:P21757 No chr8 15965387 16050300 16107878 16192791 +PA31182 4482 HGNC:7377 ENSG00000175806 methionine sulfoxide reductase A MSRA Yes No Comparative Toxicogenomics Database:4482, Ensembl:ENSG00000175806, GenAtlas:MSRA, GeneCard:MSRA, HGNC:HGNC:7377, HumanCyc Gene:HS10977, ModBase:Q9UJ68, NCBI Gene:4482, OMIM:601250, RefSeq DNA:NT_077531, RefSeq Protein:NP_001129142, RefSeq Protein:NP_001129143, RefSeq Protein:NP_001186658, RefSeq Protein:NP_036463, RefSeq RNA:NM_001135670, RefSeq RNA:NM_001135671, RefSeq RNA:NM_001199729, RefSeq RNA:NM_012331, UCSC Genome Browser:NM_012331, UniProtKB:Q549N4, UniProtKB:Q66MI7, UniProtKB:Q9UJ68 No chr8 9911830 10286401 10054224 10428891 +PA37848 51734 HGNC:14133 ENSG00000198736 methionine sulfoxide reductase B1 MSRB1 selenoprotein R SELENOR, SELENOX, SEPX1, SelR, SelX, SepR Yes No Comparative Toxicogenomics Database:51734, Ensembl:ENSG00000198736, GenAtlas:SEPX1, GeneCard:SEPX1, HGNC:HGNC:14133, ModBase:Q9NZV6, NCBI Gene:51734, OMIM:606216, RefSeq DNA:NT_010393, RefSeq Protein:NP_057416, RefSeq RNA:NM_016332, UCSC Genome Browser:NM_016332, UniProtKB:Q9NZV6 No chr16 1988234 1993294 1938233 1943293 +PA134979691 22921 HGNC:17061 ENSG00000148450 methionine sulfoxide reductase B2 MSRB2 CBS-1, CBS1, CGI-131, MSRB, PILB Yes No Comparative Toxicogenomics Database:22921, Ensembl:ENSG00000148450, GeneCard:MSRB2, HGNC:HGNC:17061, HumanCyc Gene:HS07529, ModBase:Q9Y3D2, NCBI Gene:22921, RefSeq DNA:NT_008705, RefSeq Protein:NP_036360, RefSeq RNA:NM_012228, UniProtKB:Q9Y3D2 No chr10 23384427 23410942 23095498 23122013 +PA134991350 253827 HGNC:27375 ENSG00000174099 methionine sulfoxide reductase B3 MSRB3 DFNB74, DKFZp686C1178, FLJ36866 Yes No Ensembl:ENSG00000174099, GeneCard:MSRB3, HGNC:HGNC:27375, ModBase:Q8IXL7, NCBI Gene:253827, RefSeq DNA:NG_023441, RefSeq DNA:NT_029419, RefSeq Protein:NP_001026849, RefSeq Protein:NP_001180389, RefSeq Protein:NP_001180390, RefSeq Protein:NP_932346, RefSeq RNA:NM_001031679, RefSeq RNA:NM_001193460, RefSeq RNA:NM_001193461, RefSeq RNA:NM_198080, UniProtKB:Q6MZU8, UniProtKB:Q8IXL7 No chr12 65672423 65860687 65278643 65466907 +PA134886837 118490 HGNC:21000 ENSG00000166343 MSS51 mitochondrial translational activator MSS51 FLJ39565, ZMYND17 Yes No Ensembl:ENSG00000166343, GeneCard:ZMYND17, HGNC:HGNC:21000, ModBase:Q4VC12, NCBI Gene:118490, RefSeq DNA:NT_030059, RefSeq Protein:NP_001019764, RefSeq RNA:NM_001024593, UniProtKB:Q4VC12 No chr10 75183337 75193319 73423579 73433561 +PA31185 4485 HGNC:7380 ENSG00000173531 macrophage stimulating 1 MST1 hepatocyte growth factor-like protein homolog, macrophage stimulating 1 (hepatocyte growth factor-like) D3F15S2, DNF15S2, HGFL, MSP, NF15S2 Yes No Comparative Toxicogenomics Database:4485, Ensembl:ENSG00000173531, GenAtlas:MST1, GeneCard:MST1, HGNC:HGNC:7380, HumanCyc Gene:HS10683, ModBase:P26927, NCBI Gene:4485, OMIM:142408, RefSeq DNA:NG_016454, RefSeq DNA:NT_022517, RefSeq Protein:NP_066278, RefSeq RNA:NM_020998, UCSC Genome Browser:NM_020998, UniProtKB:P26927, UniProtKB:Q53GN8 No chr3 49721380 49726196 49683947 49689528 +PA31195 11223 HGNC:7390 ENSG00000186715 macrophage stimulating 1-like MST1L D1F15S1A, MSPL-7, MSPL7 Yes No Ensembl:ENSG00000186715, GenAtlas:MSTP9, GeneCard:MST1P9, HGNC:HGNC:7390, NCBI Gene:11223, RefSeq DNA:NG_001235, RefSeq DNA:NT_004610, RefSeq DNA:NT_004873, RefSeq RNA:NR_002729 No chr1 17081129 17090975 16754634 16764480 +PA31188 11209 HGNC:7383 ENSG00000186301 macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 MST1P2 MSPL-2, MSPL2, MSTP1, MSTP3 Yes No Ensembl:ENSG00000186301, GenAtlas:MSTP2, GeneCard:MST1P2, HGNC:HGNC:7383, NCBI Gene:11209, RefSeq DNA:NG_001239, RefSeq DNA:NG_001240, RefSeq DNA:NG_001241, RefSeq DNA:NT_004610, RefSeq DNA:NT_004873, RefSeq RNA:NR_027504 No chr1 16972069 16976915 16645574 16650420 +PA31186 4486 HGNC:7381 ENSG00000164078 macrophage stimulating 1 receptor MST1R c-met-related tyrosine kinase, macrophage stimulating 1 receptor (c-met-related tyrosine kinase) CD136, CDw136, PTK8, RON, SEA Yes No Comparative Toxicogenomics Database:4486, Ensembl:ENSG00000164078, GenAtlas:MST1R, GeneCard:MST1R, HGNC:HGNC:7381, HumanCyc Gene:HS09003, ModBase:Q04912, NCBI Gene:4486, OMIM:600168, RefSeq DNA:NT_022517, RefSeq Protein:NP_002438, RefSeq RNA:NM_002447, UCSC Genome Browser:NM_002447, UniProtKB:Q04912 No chr3 49924435 49941311 49886471 49903637 +PA162396253 2660 HGNC:4223 ENSG00000138379 myostatin MSTN GDF8 Yes No Ensembl:ENSG00000138379, GeneCard:MSTN, HGNC:HGNC:4223, HumanCyc Gene:HS06494, ModBase:O14793, NCBI Gene:2660, OMIM:601788, RefSeq DNA:NG_009800, RefSeq DNA:NT_005403, RefSeq Protein:NP_005250, RefSeq RNA:NM_005259, UniProtKB:O14793, UniProtKB:Q53S46 No chr2 190920426 190927455 190055700 190062729 +PA142671313 55154 HGNC:29678 ENSG00000125459 misato mitochondrial distribution and morphology regulator 1 MSTO1 """misato 1, mitochondrial distribution and morphology regulator"", ""misato homolog 1 (Drosophila)""" FLJ10504, LST005, MST, misato Yes No Ensembl:ENSG00000125459, GeneCard:MSTO1, HGNC:HGNC:29678, HumanCyc Gene:HS04891, ModBase:Q8TE05, NCBI Gene:55154, RefSeq DNA:NT_004487, RefSeq Protein:NP_060586, RefSeq RNA:NM_018116, UniProtKB:Q9BUK6 No chr1 155579961 155584758 155610170 155614967 +PA31196 4487 HGNC:7391 ENSG00000163132 msh homeobox 1 MSX1 HOX7, HYD1, OFC5 Yes No Comparative Toxicogenomics Database:4487, Ensembl:ENSG00000163132, GenAtlas:MSX1, GeneCard:MSX1, HGNC:HGNC:7391, HumanCyc Gene:HS08792, ModBase:P28360, NCBI Gene:4487, OMIM:106600, OMIM:142983, OMIM:189500, OMIM:608874, RefSeq DNA:NG_008121, RefSeq DNA:NT_006051, RefSeq Protein:NP_002439, RefSeq RNA:NM_002448, UCSC Genome Browser:NM_002448, UniProtKB:P28360 No chr4 4861392 4865663 4859665 4863936 +PA31197 4488 HGNC:7392 ENSG00000120149 msh homeobox 2 MSX2 craniosynostosis, type 2 CRS2, FPP, HOX8, MSH, PFM, PFM1 Yes No Comparative Toxicogenomics Database:4488, Ensembl:ENSG00000120149, GenAtlas:MSX2, GeneCard:MSX2, HGNC:HGNC:7392, HumanCyc Gene:HS04373, ModBase:P35548, NCBI Gene:4488, OMIM:123101, OMIM:168500, OMIM:168550, OMIM:604757, RefSeq DNA:NG_008124, RefSeq DNA:NT_023133, RefSeq Protein:NP_002440, RefSeq RNA:NM_002449, UCSC Genome Browser:NM_002449, UniProtKB:P35548 No chr5 174151575 174157902 174724495 174730899 +PA31198 4489 HGNC:7393 ENSG00000205362 metallothionein 1A MT1A MT1, MT1S Yes No Comparative Toxicogenomics Database:4489, Ensembl:ENSG00000205362, GenAtlas:MT1A, GeneCard:MT1A, HGNC:HGNC:7393, HumanCyc Gene:HS04857, ModBase:P04731, NCBI Gene:4489, OMIM:156350, RefSeq DNA:NT_010498, RefSeq Protein:NP_005937, RefSeq RNA:NM_005946, UCSC Genome Browser:NM_005946, UniProtKB:P04731 No chr16 56672578 56673999 56638666 56640087 +PA31199 4490 HGNC:7394 ENSG00000169688 metallothionein 1B MT1B MT1, MT1Q Yes No Comparative Toxicogenomics Database:4490, Ensembl:ENSG00000169688, GenAtlas:MT1B, GeneCard:MT1B, HGNC:HGNC:7394, HumanCyc Gene:HS10611, ModBase:P07438, NCBI Gene:4490, OMIM:156349, RefSeq DNA:NT_010498, RefSeq Protein:NP_005938, RefSeq RNA:NM_005947, UCSC Genome Browser:NM_005947, UniProtKB:P07438, UniProtKB:Q86YX0 No chr16 56685811 56687116 56651899 56653204 +PA31200 441771 HGNC:7395 ENSG00000205360 metallothionein 1C, pseudogene MT1CP Yes No Ensembl:ENSG00000205360, GenAtlas:MT1CP, GeneCard:MT1CP, HGNC:HGNC:7395, NCBI Gene:441771, RefSeq DNA:NG_005880, RefSeq DNA:NT_010498 No chr16 56681601 56683425 56647689 56649513 +PA31201 326343 HGNC:7396 ENSG00000205361 metallothionein 1D, pseudogene MT1DP MTM Yes No Ensembl:ENSG00000205361, GenAtlas:MT1DP, GeneCard:MT1DP, HGNC:HGNC:7396, ModBase:A1L3X4, NCBI Gene:326343, RefSeq DNA:NT_010498, RefSeq RNA:NR_003658, RefSeq RNA:NR_027781 No chr16 56677599 56678853 56643687 56644941 +PA31202 4493 HGNC:7397 ENSG00000169715 metallothionein 1E MT1E MT1, MTD Yes No Comparative Toxicogenomics Database:4493, Ensembl:ENSG00000169715, GenAtlas:MT1E, GeneCard:MT1E, HGNC:HGNC:7397, HumanCyc Gene:HS09994, ModBase:P04732, NCBI Gene:4493, OMIM:156351, RefSeq DNA:NT_010498, RefSeq Protein:NP_783316, RefSeq RNA:NM_175617, UCSC Genome Browser:NM_175617, UniProtKB:P04732 No chr16 56659557 56661024 56625673 56627112 +PA31203 4494 HGNC:7398 ENSG00000198417 metallothionein 1F MT1F MT1 Yes No Comparative Toxicogenomics Database:4494, Ensembl:ENSG00000198417, GenAtlas:MT1F, GeneCard:MT1F, HGNC:HGNC:7398, ModBase:P04733, NCBI Gene:4494, OMIM:156352, RefSeq DNA:NT_010498, RefSeq Protein:NP_005940, RefSeq RNA:NM_005949, UCSC Genome Browser:NM_005949, UniProtKB:P04733 No chr16 56691855 56693215 56657943 56659303 +PA31204 4495 HGNC:7399 ENSG00000125144 metallothionein 1G MT1G metallothionein 1K MT1, MT1K Yes No Comparative Toxicogenomics Database:4495, Ensembl:ENSG00000125144, GenAtlas:MT1G, GeneCard:MT1G, HGNC:HGNC:7399, ModBase:P13640, NCBI Gene:4495, OMIM:156353, RefSeq DNA:NT_010498, RefSeq Protein:NP_005941, RefSeq RNA:NM_005950, UCSC Genome Browser:NM_005950, UniProtKB:P13640 No chr16 56700653 56701977 56666735 56668065 +PA31205 4496 HGNC:7400 ENSG00000205358 metallothionein 1H MT1H MT1 Yes No Comparative Toxicogenomics Database:4496, Ensembl:ENSG00000205358, GenAtlas:MT1H, GeneCard:MT1H, HGNC:HGNC:7400, HumanCyc Gene:HS08408, ModBase:P80294, NCBI Gene:4496, OMIM:156354, RefSeq DNA:NT_010498, RefSeq Protein:NP_005942, RefSeq RNA:NM_005951, UCSC Genome Browser:NM_005951, UniProtKB:P80294 No chr16 56703726 56705041 56669814 56671129 +PA166049006 645745 HGNC:31864 ENSG00000244020 metallothionein 1H like 1 MT1HL1 metallothionein 1H-like 1 MT1P2 Yes No Ensembl:ENSG00000244020, HGNC:HGNC:31864, NCBI Gene:645745 No chr1 237167403 237167718 237004103 237004418 +PA31207 4498 HGNC:7402 ENSG00000255986 metallothionein 1J, pseudogene MT1JP MTB Yes No Ensembl:ENSG00000255986, GenAtlas:MT1JP, GeneCard:MT1JP, HGNC:HGNC:7402, NCBI Gene:4498, OMIM:156356, RefSeq DNA:NG_005506, RefSeq DNA:NT_010498, RefSeq RNA:NR_036677, UCSC Genome Browser:NM_175622 No chr16 56669651 56670998 56635739 56637086 +PA31209 4500 HGNC:7404 ENSG00000260549 metallothionein 1L (gene/pseudogene) MT1L MT1 MT1R, MTF Yes No Comparative Toxicogenomics Database:4500, Ensembl:ENSG00000260549, GenAtlas:MT1L, GeneCard:MT1L, HGNC:HGNC:7404, NCBI Gene:4500, OMIM:156358, RefSeq DNA:NT_010498, RefSeq RNA:NR_001447, UCSC Genome Browser:NM_002450 No chr16 56651373 56652730 56617461 56618818 +PA142671312 4499 HGNC:14296 ENSG00000205364 metallothionein 1M MT1M MT1, MT1K Yes No Comparative Toxicogenomics Database:4499, Ensembl:ENSG00000205364, GeneCard:MT1M, HGNC:HGNC:14296, HumanCyc Gene:HS04854, ModBase:Q8N339, NCBI Gene:4499, OMIM:156357, RefSeq DNA:NT_010498, RefSeq Protein:NP_789846, RefSeq RNA:NM_176870, UniProtKB:Q8N339 No chr16 56666534 56667898 56632622 56633986 +PA134950002 493987 HGNC:23681 ENSG00000213761 metallothionein 1 pseudogene 1 MT1P1 bA435O5.3 Yes No Ensembl:ENSG00000213761, GeneCard:MT1P1, HGNC:HGNC:23681, NCBI Gene:493987, RefSeq DNA:NG_005527, RefSeq DNA:NT_008470 No chr9 98175399 98175797 95413117 95413515 +PA25668 140851 HGNC:16120 ENSG00000229230 metallothionein 1 pseudogene 3 MT1P3 MTL4, dJ614O4.6 Yes No Ensembl:ENSG00000229230, GenAtlas:C20orf127, GeneCard:MT1P3, HGNC:HGNC:16120, ModBase:Q9BQN2, NCBI Gene:140851, UniProtKB:Q9BQN2 No chr20 33805812 33805988 35218009 35218185 +PA31213 4501 HGNC:7405 ENSG00000187193 metallothionein 1X MT1X MT-1l, MT1 Yes No Comparative Toxicogenomics Database:4501, Ensembl:ENSG00000187193, GenAtlas:MT1X, GeneCard:MT1X, HGNC:HGNC:7405, HumanCyc Gene:HS09989, ModBase:P80297, NCBI Gene:4501, OMIM:156359, RefSeq DNA:NT_010498, RefSeq Protein:NP_005943, RefSeq RNA:NM_005952, UCSC Genome Browser:NM_005952, UniProtKB:P80297 No chr16 56716382 56718108 56682470 56684196 +PA31245 645652 HGNC:7442 ENSG00000233929 metallothionein 1X pseudogene 1 MT1XP1 Yes No Ensembl:ENSG00000233929, GenAtlas:MTL1, GeneCard:MTL1, HGNC:HGNC:7442, NCBI Gene:645652 No chr1 16567711 16567893 16241216 16241398 +PA31214 4502 HGNC:7406 ENSG00000125148 metallothionein 2A MT2A MT2 Yes No Comparative Toxicogenomics Database:4502, Ensembl:ENSG00000125148, GenAtlas:MT2A, GeneCard:MT2A, HGNC:HGNC:7406, HumanCyc Gene:HS04855, ModBase:P02795, NCBI Gene:4502, OMIM:156360, RefSeq DNA:NT_010498, RefSeq Protein:NP_005944, RefSeq RNA:NM_005953, UCSC Genome Browser:NM_005953, UniProtKB:P02795 No chr16 56642478 56643409 56608566 56609497 +PA31215 4503 HGNC:7407 ENSG00000162840 metallothionein 2 pseudogene 1 MT2P1 Yes No Ensembl:ENSG00000162840, GenAtlas:MT2P1, GeneCard:MT2P1, HGNC:HGNC:7407, NCBI Gene:4503, RefSeq DNA:NG_001158, RefSeq DNA:NT_022778, RefSeq DNA:NT_167250 No chr4 69241969 69242383 68376251 68376665 +PA31216 4504 HGNC:7408 ENSG00000087250 metallothionein 3 MT3 GIF Yes No Comparative Toxicogenomics Database:4504, Ensembl:ENSG00000087250, GenAtlas:MT3, GeneCard:MT3, HGNC:HGNC:7408, HumanCyc Gene:HS01566, ModBase:P25713, NCBI Gene:4504, OMIM:139255, RefSeq DNA:NT_010498, RefSeq Protein:NP_005945, RefSeq RNA:NM_005954, UCSC Genome Browser:NM_005954, UniProtKB:P25713 No chr16 56623267 56625000 56589355 56591088 +PA38649 84560 HGNC:18705 ENSG00000102891 metallothionein 4 MT4 MTIV Yes No Comparative Toxicogenomics Database:84560, Ensembl:ENSG00000102891, GenAtlas:MT4, GeneCard:MT4, HGNC:HGNC:18705, HumanCyc Gene:HS02423, ModBase:P47944, NCBI Gene:84560, OMIM:606206, RefSeq DNA:NT_010498, RefSeq Protein:NP_116324, RefSeq RNA:NM_032935, UCSC Genome Browser:NM_032935, UniProtKB:P47944 No chr16 56598961 56602869 56565049 56568957 +PA31218 9112 HGNC:7410 ENSG00000182979 metastasis associated 1 MTA1 Yes No Comparative Toxicogenomics Database:9112, Ensembl:ENSG00000182979, GenAtlas:MTA1, GeneCard:MTA1, HGNC:HGNC:7410, ModBase:Q13330, NCBI Gene:9112, OMIM:603526, RefSeq DNA:NT_026437, RefSeq Protein:NP_001190187, RefSeq Protein:NP_004680, RefSeq RNA:NM_001203258, RefSeq RNA:NM_004689, UCSC Genome Browser:NM_004689, UniProtKB:Q13330, UniProtKB:Q9BRL8 No chr14 105886186 105937066 105419849 105470729 +PA31219 9219 HGNC:7411 ENSG00000149480 metastasis associated 1 family member 2 MTA2 metastasis associated 1 family, member 2 MTA1-L1, MTA1L1 Yes No Comparative Toxicogenomics Database:9219, Ensembl:ENSG00000149480, GenAtlas:MTA2, GeneCard:MTA2, HGNC:HGNC:7411, HumanCyc Gene:HS07616, ModBase:O94776, NCBI Gene:9219, OMIM:603947, RefSeq DNA:NT_167190, RefSeq Protein:NP_004730, RefSeq RNA:NM_004739, UCSC Genome Browser:NM_004739, UniProtKB:O94776 No chr11 62360675 62369312 62593203 62601840 +PA134953540 57504 HGNC:23784 ENSG00000057935 metastasis associated 1 family member 3 MTA3 metastasis associated 1 family, member 3 KIAA1266 Yes No Comparative Toxicogenomics Database:57504, Ensembl:ENSG00000057935, GeneCard:MTA3, HGNC:HGNC:23784, ModBase:Q9BTC8, NCBI Gene:57504, OMIM:609050, RefSeq DNA:NT_022184, RefSeq Protein:NP_065795, RefSeq RNA:NM_020744, UniProtKB:Q9BTC8 No chr2 42721709 43011080 42494569 42795032 +PA31220 4507 HGNC:7413 ENSG00000099810 methylthioadenosine phosphorylase MTAP S-methyl-5'-thioadenosine phosphorylase MSAP, c86fus Yes No Comparative Toxicogenomics Database:4507, Ensembl:ENSG00000099810, GenAtlas:MTAP, GeneCard:MTAP, HGNC:HGNC:7413, HumanCyc Gene:HS01913, ModBase:Q13126, NCBI Gene:4507, OMIM:156540, RefSeq DNA:NT_008413, RefSeq Protein:NP_002442, RefSeq RNA:NM_002451, UCSC Genome Browser:NM_002451, UniProtKB:Q13126 No chr9 21802635 21941040 21802636 21865971 +PA166351974 64757 HGNC:26189 mitochondrial amidoxime reducing component 1 MTARC1 FLJ22390, MARC1, MOSC1 Yes No HGNC:HGNC:26189, NCBI Gene:64757 No 0 0 0 0 +PA166351975 54996 HGNC:26064 mitochondrial amidoxime reducing component 2 MTARC2 FLJ20605, MARC2, MOSC2 Yes No HGNC:HGNC:26064, NCBI Gene:54996 No 0 0 0 0 +PA31221 4508 HGNC:7414 ENSG00000198744 mitochondrially encoded ATP synthase membrane subunit 6 MT-ATP6 mitochondrially encoded ATP synthase 6, mitochondrially encoded ATP synthase membrane subunit a ATP6, ATPase-6, MTATP6, RP, Su6m Yes No Comparative Toxicogenomics Database:4508, Ensembl:ENSG00000198744, GenAtlas:MT-ATP6, GeneCard:MT-ATP6, HGNC:HGNC:7414, ModBase:Q8HNQ4, NCBI Gene:4508, OMIM:516060, RefSeq Protein:AP_000644, RefSeq Protein:NP_536848, RefSeq Protein:YP_003024031, UCSC Genome Browser:NM_173702 No chrM +PA31222 4509 HGNC:7415 ENSG00000198744 mitochondrially encoded ATP synthase membrane subunit 8 MT-ATP8 mitochondrially encoded ATP synthase 8, mitochondrially encoded ATP synthase membrane subunit A6L A6L, ATP8, MTATP8, URFA6L Yes No Ensembl:ENSG00000198744, GenAtlas:MT-ATP8, GeneCard:MT-ATP8, HGNC:HGNC:7415, NCBI Gene:4509, OMIM:516070, RefSeq Protein:AP_000643, RefSeq Protein:NP_536847, RefSeq Protein:YP_003024030, UCSC Genome Browser:NM_173703, UniProtKB:P03928 No chrM +PA31224 27085 HGNC:7417 ENSG00000172167 MDM2 binding protein MTBP Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa Yes No Comparative Toxicogenomics Database:27085, Ensembl:ENSG00000172167, GenAtlas:MTBP, GeneCard:MTBP, HGNC:HGNC:7417, HumanCyc Gene:HS16058, ModBase:Q96DY7, NCBI Gene:27085, OMIM:605927, RefSeq DNA:NT_008046, RefSeq Protein:NP_071328, RefSeq RNA:NM_022045, UCSC Genome Browser:NM_022045, UniProtKB:Q96DY7 No chr8 121457638 121535875 120445398 120523635 +PA134958992 23787 HGNC:17586 ENSG00000137409 mitochondrial carrier 1 MTCH1 """presenilin-associated protein"", ""solute carrier family 25, member 49""" CGI-64, PSAP, SLC25A49 Yes No Comparative Toxicogenomics Database:23787, Ensembl:ENSG00000137409, GeneCard:MTCH1, HGNC:HGNC:17586, HumanCyc Gene:HS06339, ModBase:Q9NZJ7, NCBI Gene:23787, OMIM:610449, RefSeq DNA:NT_007592, RefSeq Protein:NP_055156, RefSeq RNA:NM_014341, UniProtKB:Q9NZJ7 No chr6 36935911 36954327 36968135 36986551 +PA134951260 23788 HGNC:17587 ENSG00000109919 mitochondrial carrier 2 MTCH2 solute carrier family 25, member 50 MIMP, SLC25A50 Yes No Comparative Toxicogenomics Database:23788, Ensembl:ENSG00000109919, GeneCard:MTCH2, HGNC:HGNC:17587, HumanCyc Gene:HS03268, ModBase:Q9Y6C9, NCBI Gene:23788, OMIM:613221, RefSeq DNA:NT_009237, RefSeq Protein:NP_055157, RefSeq RNA:NM_014342, UniProtKB:Q9Y6C9 No chr11 47638858 47664206 47604309 47642654 +PA128394616 23255 HGNC:29121 ENSG00000168502 microtubule crosslinking factor 1 MTCL1 SOGA family member 2 CCDC165, KIAA0802, SOGA2 Yes Yes Ensembl:ENSG00000168502, GeneCard:KIAA0802, HGNC:HGNC:29121, NCBI Gene:23255, RefSeq DNA:NT_010859, RefSeq Protein:NP_056025, RefSeq RNA:NM_015210, UniProtKB:Q9Y4B5 No chr18 8705659 8832776 8705576 8832777 +PA25657 140710 HGNC:16111 ENSG00000149639 microtubule crosslinking factor 2 MTCL2 """suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"", ""suppressor of glucose, autophagy associated 1""" C20orf117, FLJ44670, KIAA0889, SOGA, SOGA1, dJ132F21.1 Yes No Ensembl:ENSG00000149639, GenAtlas:C20orf117, GeneCard:C20orf117, HGNC:HGNC:16111, HumanCyc Gene:HS12924, NCBI Gene:140710, RefSeq DNA:NT_011362, RefSeq Protein:NP_542194, RefSeq Protein:NP_954650, RefSeq RNA:NM_080627, RefSeq RNA:NM_199181, UniProtKB:O94964, UniProtKB:Q6ZTG8 No chr20 35405845 35492087 36777442 36863684 +PA134983080 387104 HGNC:21494 ENSG00000214338 MTCL family member 3 MTCL3 SOGA family member 3 C6orf174, SOGA3, dJ403A15.3 Yes No Ensembl:ENSG00000214338, GeneCard:C6orf174, HGNC:HGNC:21494, ModBase:Q5TF21, NCBI Gene:387104, RefSeq DNA:NT_025741, RefSeq Protein:NP_001012279, RefSeq RNA:NM_001012279, UniProtKB:Q5TF21 No chr6 127759551 127841938 127438406 127519355 +PA31225 4512 HGNC:7419 ENSG00000198804 mitochondrially encoded cytochrome c oxidase I MT-CO1 COI, COX1, MTCO1 Yes No Comparative Toxicogenomics Database:4512, Ensembl:ENSG00000198804, GenAtlas:MT-CO1, GeneCard:MT-CO1, HGNC:HGNC:7419, ModBase:P00395, NCBI Gene:4512, OMIM:516030, RefSeq Protein:AP_000641, RefSeq Protein:NP_536845, RefSeq Protein:YP_003024028, UCSC Genome Browser:NM_173704, UniProtKB:P00395 No chrM +PA31226 56167 HGNC:7420 ENSG00000280243 MT-CO1 pseudogene 1 MTCO1P1 Yes No Ensembl:ENSG00000280243, GenAtlas:MTCO1P1, GeneCard:MTCO1P1, HGNC:HGNC:7420, NCBI Gene:56167 No chr21 9734540 9735381 8845707 8846548 +PA134981902 326603 HGNC:19932 ENSG00000259045 MT-CO1 pseudogene 2 MTCO1P2 Yes No Ensembl:ENSG00000259045, GeneCard:MTCO1P2, HGNC:HGNC:19932, NCBI Gene:326603, RefSeq DNA:NG_002593, RefSeq DNA:NT_026437 No chr14 32953299 32954328 32484093 32485122 +PA31227 4513 HGNC:7421 ENSG00000198712 mitochondrially encoded cytochrome c oxidase II MT-CO2 CO2, COX2, MTCO2 Yes No Comparative Toxicogenomics Database:4513, Ensembl:ENSG00000198712, GenAtlas:MT-CO2, GeneCard:MT-CO2, HGNC:HGNC:7421, ModBase:P00403, NCBI Gene:4513, OMIM:516040, RefSeq Protein:AP_000642, RefSeq Protein:NP_536846, RefSeq Protein:YP_003024029, UCSC Genome Browser:NM_173705, UniProtKB:P00403 No chrM +PA31228 140909 HGNC:16564 ENSG00000229690 MT-CO2 pseudogene 1 MTCO2P1 dJ342K12.1 Yes No Ensembl:ENSG00000229690, GenAtlas:MTCO2L, GeneCard:MTCO2P1, HGNC:HGNC:16564, NCBI Gene:140909, RefSeq DNA:NG_001007, RefSeq DNA:NT_011362 No chr20 58989454 58989930 60414396 60414872 +PA31229 4514 HGNC:7422 ENSG00000198938 mitochondrially encoded cytochrome c oxidase III MT-CO3 CO3, COIII, COX3, MTCO3 Yes No Comparative Toxicogenomics Database:4514, Ensembl:ENSG00000198938, GenAtlas:MT-CO3, GeneCard:MT-CO3, HGNC:HGNC:7422, ModBase:P00414, NCBI Gene:4514, OMIM:516050, RefSeq Protein:AP_000645, RefSeq Protein:NP_536849, RefSeq Protein:YP_003024032 No chrM +PA134977639 404026 HGNC:31342 ENSG00000235040 MT-CO3 pseudogene 1 MTCO3P1 U92032.1 Yes No Ensembl:ENSG00000235040, GeneCard:MTCO3P1, HGNC:HGNC:31342, NCBI Gene:404026 No chr6 32673921 32674580 32706144 32706803 +PA164742098 4515 HGNC:7423 ENSG00000214827 mature T cell proliferation 1 MTCP1 TCL1 family AKT coactivator C, mature T-cell proliferation 1 P13MTCP1, TCL1C, p8MTCP1 Yes No Ensembl:ENSG00000214827, GeneCard:MTCP1, HGNC:HGNC:7423, ModBase:P56277, ModBase:P56278, NCBI Gene:4515, OMIM:300116, RefSeq DNA:NG_005114, RefSeq DNA:NT_167198, RefSeq Protein:NP_001018025, RefSeq RNA:NM_001018025, UniProtKB:P56278 No chrX 154292309 154299547 155064034 155071272 +PA31234 4519 HGNC:7427 ENSG00000198727 mitochondrially encoded cytochrome b MT-CYB COB, CYTB, MTCYB, UQCR3 Yes No Comparative Toxicogenomics Database:4519, Ensembl:ENSG00000198727, GenAtlas:MT-CYB, GeneCard:MT-CYB, HGNC:HGNC:7427, ModBase:Q9B2X7, NCBI Gene:4519, OMIM:516020, RefSeq Protein:AP_000651, RefSeq Protein:NP_536855, RefSeq Protein:YP_003024038, UniProtKB:P00156 No chrM +PA165791458 100873168 HGNC:38807 ENSG00000217179 MT-CYB pseudogene 2 MTCYBP2 Yes No Ensembl:ENSG00000217179, HGNC:HGNC:38807, NCBI Gene:100873168 No chrY 21033988 21034158 18872102 18872272 +PA142671307 92140 HGNC:29608 ENSG00000147649 metadherin MTDH astrocyte elevated gene 1 3D3, AEG-1, LYRIC Yes No Ensembl:ENSG00000147649, GeneCard:MTDH, HGNC:HGNC:29608, ModBase:Q86UE4, NCBI Gene:92140, OMIM:610323, RefSeq DNA:NT_008046, RefSeq Protein:NP_848927, RefSeq RNA:NM_178812, UniProtKB:Q86UE4 No chr8 98656375 98742488 97643972 97730260 +PA142671308 7978 HGNC:21463 ENSG00000127989 mitochondrial transcription termination factor 1 MTERF1 mitochondrial transcription termination factor MTERF Yes No Ensembl:ENSG00000127989, GeneCard:MTERF, HGNC:HGNC:21463, HumanCyc Gene:HS05147, ModBase:Q99551, NCBI Gene:7978, OMIM:602318, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_008911, RefSeq RNA:NM_006980, UniProtKB:Q99551 No chr7 91502021 91510016 91872876 91880733 +PA142671311 80298 HGNC:30779 ENSG00000120832 mitochondrial transcription termination factor 2 MTERF2 MTERF domain containing 3 FLJ14062, MTERFD3 Yes No Comparative Toxicogenomics Database:80298, Ensembl:ENSG00000120832, GeneCard:MTERFD3, HGNC:HGNC:30779, HumanCyc Gene:HS13004, ModBase:Q49AM1, NCBI Gene:80298, RefSeq DNA:NT_029419, RefSeq Protein:NP_001028222, RefSeq Protein:NP_079474, RefSeq RNA:NM_001033050, RefSeq RNA:NM_025198, UniProtKB:Q49AM1 No chr12 107371069 107380944 106977291 106987166 +PA142671309 51001 HGNC:24258 ENSG00000156469 mitochondrial transcription termination factor 3 MTERF3 MTERF domain containing 1 CGI-12, FLJ10939, MTERFD1 Yes No Ensembl:ENSG00000156469, GeneCard:MTERFD1, HGNC:HGNC:24258, HumanCyc Gene:HS14619, ModBase:Q96E29, NCBI Gene:51001, RefSeq DNA:NT_008046, RefSeq Protein:NP_057026, RefSeq RNA:NM_015942, UniProtKB:Q96E29 No chr8 97251645 97273796 96239398 96261613 +PA142671310 130916 HGNC:28785 ENSG00000122085 mitochondrial transcription termination factor 4 MTERF4 MTERF domain containing 2 MGC61716, MTERFD2 Yes No Comparative Toxicogenomics Database:130916, Ensembl:ENSG00000122085, GeneCard:MTERFD2, HGNC:HGNC:28785, NCBI Gene:130916, RefSeq DNA:NT_005416, RefSeq Protein:NP_872307, RefSeq RNA:NM_182501, RefSeq RNA:NR_028049, RefSeq RNA:NR_028050, RefSeq RNA:NR_028051, UniProtKB:Q7Z6M4 No chr2 242026509 242041747 241072168 241103367 +PA31235 4520 HGNC:7428 ENSG00000188786 metal regulatory transcription factor 1 MTF1 metal-regulatory transcription factor 1 Yes No Comparative Toxicogenomics Database:4520, Ensembl:ENSG00000188786, GenAtlas:MTF1, GeneCard:MTF1, HGNC:HGNC:7428, ModBase:Q14872, NCBI Gene:4520, OMIM:600172, RefSeq DNA:NT_032977, RefSeq Protein:NP_005946, RefSeq RNA:NM_005955, UCSC Genome Browser:NM_005955, UniProtKB:Q14872 No chr1 38275239 38325292 37809567 37859624 +PA128394586 22823 HGNC:29535 ENSG00000143033 metal response element binding transcription factor 2 MTF2 polycomb-like 2, tudor domain containing 19A M96, PCL2, TDRD19A Yes No Comparative Toxicogenomics Database:22823, Ensembl:ENSG00000143033, GeneCard:MTF2, HGNC:HGNC:29535, HumanCyc Gene:HS06980, ModBase:Q9Y483, NCBI Gene:22823, OMIM:609882, RefSeq DNA:NT_032977, RefSeq Protein:NP_001157863, RefSeq Protein:NP_001157864, RefSeq Protein:NP_001157865, RefSeq Protein:NP_031384, RefSeq RNA:NM_001164391, RefSeq RNA:NM_001164392, RefSeq RNA:NM_001164393, RefSeq RNA:NM_007358, UCSC Genome Browser:NM_007358, UniProtKB:B4DZ69, UniProtKB:B4DZG1, UniProtKB:Q7Z534, UniProtKB:Q96G26, UniProtKB:Q9Y483 No chr1 93544792 93604638 93079219 93139081 +PA142671304 123263 HGNC:29666 ENSG00000103707 mitochondrial methionyl-tRNA formyltransferase MTFMT FMT1 Yes No Comparative Toxicogenomics Database:123263, Ensembl:ENSG00000103707, GeneCard:MTFMT, HGNC:HGNC:29666, HumanCyc Gene:HS02529, ModBase:Q96DP5, NCBI Gene:123263, OMIM:611766, RefSeq DNA:NT_010194, RefSeq Protein:NP_640335, RefSeq RNA:NM_139242, UniProtKB:Q96DP5 No chr15 65293850 65321977 65001512 65029639 +PA166048974 51537 HGNC:26945 ENSG00000242114 mitochondrial fission process 1 MTFP1 HSPC242, MTP18 Yes No Ensembl:ENSG00000242114, HGNC:HGNC:26945, NCBI Gene:51537 No chr22 30821611 30825041 30425623 30429054 +PA142671305 9650 HGNC:29510 ENSG00000066855 mitochondrial fission regulator 1 MTFR1 likely ortholog of chicken chondrocyte protein with a poly proline region CHPPR, FAM54A2, KIAA0009 Yes No Ensembl:ENSG00000066855, GeneCard:MTFR1, HGNC:HGNC:29510, HumanCyc Gene:HS12185, NCBI Gene:9650, RefSeq DNA:NT_008183, RefSeq Protein:NP_001139310, RefSeq Protein:NP_001139311, RefSeq Protein:NP_055452, RefSeq RNA:NM_001145838, RefSeq RNA:NM_001145839, RefSeq RNA:NM_014637, UniProtKB:B4E3G8, UniProtKB:Q15390, UniProtKB:Q7Z669 No chr8 66556888 66622798 65643873 65771252 +PA142671888 56181 HGNC:28836 ENSG00000117640 mitochondrial fission regulator 1 like MTFR1L mitochondrial fission regulator 1-like FAM54B Yes No Ensembl:ENSG00000117640, GeneCard:FAM54B, HGNC:HGNC:28836, ModBase:Q9H019, NCBI Gene:56181, RefSeq DNA:NT_004610, RefSeq Protein:NP_001093095, RefSeq Protein:NP_001093096, RefSeq Protein:NP_001093097, RefSeq Protein:NP_062457, RefSeq RNA:NM_001099625, RefSeq RNA:NM_001099626, RefSeq RNA:NM_001099627, RefSeq RNA:NM_019557, UniProtKB:Q8N3P4, UniProtKB:Q9H019 No chr1 26146397 26159433 25819906 25832942 +PA134871105 113115 HGNC:21115 ENSG00000146410 mitochondrial fission regulator 2 MTFR2 DUFD1, FAM54A Yes No Ensembl:ENSG00000146410, GeneCard:FAM54A, HGNC:HGNC:21115, HumanCyc Gene:HS14152, ModBase:Q6P444, NCBI Gene:113115, RefSeq DNA:NT_025741, RefSeq Protein:NP_001092756, RefSeq Protein:NP_612428, RefSeq RNA:NM_001099286, RefSeq RNA:NM_138419, UniProtKB:Q6P444 No chr6 136552168 136571449 136231030 136253659 +PA142671306 92170 HGNC:32159 ENSG00000148824 mitochondrial ribosome associated GTPase 1 MTG1 mitochondrial GTPase 1 homolog (S. cerevisiae), mitochondrial ribosome-associated GTPase 1 GTPBP7 Yes No Comparative Toxicogenomics Database:92170, Ensembl:ENSG00000148824, GeneCard:MTG1, HGNC:HGNC:32159, HumanCyc Gene:HS14255, ModBase:Q9BT17, NCBI Gene:92170, RefSeq DNA:NT_008818, RefSeq Protein:NP_612393, RefSeq RNA:NM_138384, UniProtKB:Q9BT17 No chr10 135207621 135234174 133394117 133420670 +PA29059 26164 HGNC:16239 ENSG00000101181 mitochondrial ribosome associated GTPase 2 MTG2 GTP binding protein 5 (putative), mitochondrial ribosome-associated GTPase 2 FLJ10741, GTPBP5, ObgH1, dJ1005F21.2 Yes No Comparative Toxicogenomics Database:26164, Ensembl:ENSG00000101181, GenAtlas:GTPBP5, GeneCard:GTPBP5, HGNC:HGNC:16239, HumanCyc Gene:HS12440, ModBase:Q9H4K7, NCBI Gene:26164, OMIM:610919, RefSeq DNA:NT_011362, RefSeq Protein:NP_056481, RefSeq RNA:NM_015666, UCSC Genome Browser:NM_015666, UniProtKB:Q9H4K7 No chr20 60758081 60778624 62183025 62203568 +PA31236 4522 HGNC:7432 ENSG00000100714 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase MTHFC, MTHFD Yes Yes Comparative Toxicogenomics Database:4522, Ensembl:ENSG00000100714, GenAtlas:MTHFD1, GeneCard:MTHFD1, HGNC:HGNC:7432, HumanCyc Gene:HS02138, ModBase:P11586, NCBI Gene:4522, OMIM:172460, OMIM:601634, RefSeq DNA:NG_012450, RefSeq DNA:NT_026437, RefSeq Protein:NP_005947, RefSeq RNA:NM_005956, UCSC Genome Browser:NM_005956, UniProtKB:P11586 No chr14 64854754 64926725 64388041 64460007 +PA134927803 25902 HGNC:21055 ENSG00000120254 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like MTHFD1L """10-formyl-THF synthetase"", ""methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial""" DKFZP586G1517, FLJ21145, FTHFSDC1 Yes No Comparative Toxicogenomics Database:25902, Ensembl:ENSG00000120254, GeneCard:MTHFD1L, HGNC:HGNC:21055, HumanCyc Gene:HS04384, ModBase:Q6UB35, NCBI Gene:25902, OMIM:611427, RefSeq DNA:NT_025741, RefSeq Protein:NP_001229696, RefSeq Protein:NP_001229697, RefSeq Protein:NP_001229698, RefSeq Protein:NP_056255, RefSeq RNA:NM_001242767, RefSeq RNA:NM_001242768, RefSeq RNA:NM_001242769, RefSeq RNA:NM_015440, UniProtKB:Q6UB35 No chr6 151186815 151423023 150865679 151101887 +PA31237 4523 HGNC:7433 ENSG00000231831 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 pseudogene 1 MTHFD1P1 Yes No Ensembl:ENSG00000231831, GenAtlas:MTHFD1P1, GeneCard:MTHFD1P1, HGNC:HGNC:7433, NCBI Gene:4523, RefSeq DNA:NG_001159, RefSeq DNA:NT_011630 No chrX 57418826 57421885 57392393 57395452 +PA31238 10797 HGNC:7434 ENSG00000065911 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase MTHFD2 Yes No Comparative Toxicogenomics Database:10797, Ensembl:ENSG00000065911, GenAtlas:MTHFD2, GeneCard:MTHFD2, HGNC:HGNC:7434, HumanCyc Gene:HS00858, ModBase:P13995, NCBI Gene:10797, OMIM:604887, RefSeq DNA:NT_022184, RefSeq Protein:NP_006627, RefSeq RNA:NM_001410192, RefSeq RNA:NM_006636, UCSC Genome Browser:NM_006636, UniProtKB:P13995, UniProtKB:Q7Z650 No chr2 74425690 74442425 74198563 74215298 +PA134943916 441024 HGNC:31865 ENSG00000163738 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like MGC72244 Yes No Ensembl:ENSG00000163738, GeneCard:MTHFD2L, HGNC:HGNC:31865, ModBase:Q9H903, NCBI Gene:441024, RefSeq DNA:NT_022778, RefSeq Protein:NP_001138450, RefSeq RNA:NM_001144978, UniProtKB:Q9H903 No chr4 74989019 75168816 74123280 74303099 +PA245 4524 HGNC:7436 ENSG00000177000 methylenetetrahydrofolate reductase MTHFR methylenetetrahydrofolate reductase (NAD(P)H) Yes Yes Comparative Toxicogenomics Database:4524, Ensembl:ENSG00000177000, GenAtlas:MTHFR, GeneCard:MTHFR, HGNC:HGNC:7436, HumanCyc Gene:HS11117, ModBase:P42898, NCBI Gene:4524, OMIM:119530, OMIM:181500, OMIM:188050, OMIM:236250, OMIM:601634, OMIM:607093, RefSeq DNA:NG_013351, RefSeq DNA:NT_021937, RefSeq Protein:NP_005948, RefSeq RNA:NM_005957, UCSC Genome Browser:NM_005957, UniProtKB:P42898, UniProtKB:Q8IU67 No chr1 11845787 11866160 11785730 11806103 +PA31239 10588 HGNC:7437 ENSG00000136371 methenyltetrahydrofolate synthetase MTHFS """5,10-methenyltetrahydrofolate synthetase"", ""5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)"", ""5-formyltetrahydrofolate cyclo-ligase""" HsT19268 Yes No Comparative Toxicogenomics Database:10588, Ensembl:ENSG00000136371, GenAtlas:MTHFS, GeneCard:MTHFS, HGNC:HGNC:7437, HumanCyc Gene:HS06152, ModBase:P49914, NCBI Gene:10588, OMIM:604197, RefSeq DNA:NT_010194, RefSeq Protein:NP_001186687, RefSeq Protein:NP_006432, RefSeq RNA:NM_001199758, RefSeq RNA:NM_006441, RefSeq RNA:NR_037654, UCSC Genome Browser:NM_006441, UniProtKB:P49914, UniProtKB:Q96EE9 No chr15 80135889 80189627 79843547 79897285 +PA144596408 64779 HGNC:25778 ENSG00000103248 methenyltetrahydrofolate synthetase domain containing MTHFSD FLJ12998 Yes No Ensembl:ENSG00000103248, GeneCard:MTHFSD, HGNC:HGNC:25778, HumanCyc Gene:HS02479, NCBI Gene:64779, RefSeq DNA:NT_010498, RefSeq Protein:NP_001152849, RefSeq Protein:NP_001152850, RefSeq Protein:NP_001152851, RefSeq Protein:NP_001152852, RefSeq Protein:NP_073601, RefSeq RNA:NM_001159377, RefSeq RNA:NM_001159378, RefSeq RNA:NM_001159379, RefSeq RNA:NM_001159380, RefSeq RNA:NM_022764, RefSeq RNA:NR_027489, RefSeq RNA:NR_027490, UniProtKB:B4DN17, UniProtKB:B7ZLC2, UniProtKB:Q2M296 No chr16 86563782 86588841 86530176 86555235 +PA31243 4528 HGNC:7441 ENSG00000085760 mitochondrial translational initiation factor 2 MTIF2 IF-2mt Yes No Comparative Toxicogenomics Database:4528, Ensembl:ENSG00000085760, GenAtlas:MTIF2, GeneCard:MTIF2, HGNC:HGNC:7441, HumanCyc Gene:HS01507, ModBase:P46199, NCBI Gene:4528, OMIM:603766, RefSeq DNA:NT_022184, RefSeq Protein:NP_001005369, RefSeq Protein:NP_002444, RefSeq RNA:NM_001005369, RefSeq RNA:NM_002453, UCSC Genome Browser:NM_002453, UniProtKB:P46199, UniProtKB:Q6P1N2 No chr2 55463756 55496384 55235583 55269311 +PA31244 80713 HGNC:14861 ENSG00000233432 mitochondrial translational initiation factor 2 pseudogene 1 MTIF2P1 Yes No Ensembl:ENSG00000233432, GenAtlas:MTIF2P1, GeneCard:MTIF2P1, HGNC:HGNC:14861, NCBI Gene:80713, RefSeq DNA:NG_002684, RefSeq DNA:NT_077389 No chr1 121244123 121245715 121502325 121503917 +PA162396264 219402 HGNC:29788 ENSG00000122033 mitochondrial translational initiation factor 3 MTIF3 IF-3mt, IF3(mt) Yes No Ensembl:ENSG00000122033, GeneCard:MTIF3, HGNC:HGNC:29788, HumanCyc Gene:HS04542, ModBase:Q9H2K0, NCBI Gene:219402, RefSeq DNA:NT_024524, RefSeq Protein:NP_001159733, RefSeq Protein:NP_001159734, RefSeq Protein:NP_001159735, RefSeq Protein:NP_690876, RefSeq RNA:NM_001166261, RefSeq RNA:NM_001166262, RefSeq RNA:NM_001166263, RefSeq RNA:NM_152912, UniProtKB:Q9H2K0 No chr13 28009776 28024739 27435639 27450900 +PA31247 4531 HGNC:7444 ENSG00000264697 metallothionein-like 3, pseudogene MTL3P Yes No Ensembl:ENSG00000264697, GenAtlas:MTL3, GeneCard:MTL3P, HGNC:HGNC:7444, NCBI Gene:4531 No chr18 66195267 66195356 68528030 68528119 +PA164723669 205251 HGNC:27339 ENSG00000175701 mitoregulin MTLN TP53-inhibiting lncRNA, lncRNA encoded micropeptide, long intergenic non-protein coding RNA 116, micropeptide in mitochondria, micropeptide regulator of β-oxidation, micropeptide regulator of ß-oxidation, micropeptide regulator of β-oxidation LEMP, LINC00116, MOXI, MPM, NCRNA00116, SMIM37, TILR Yes No Ensembl:ENSG00000175701, GeneCard:NCRNA00116, HGNC:HGNC:27339, NCBI Gene:205251, RefSeq DNA:NT_022135, RefSeq RNA:NR_027063 No chr2 110969106 110980517 110211529 110222940 +PA31251 4534 HGNC:7448 ENSG00000171100 myotubularin 1 MTM1 Yes No Comparative Toxicogenomics Database:4534, Ensembl:ENSG00000171100, GenAtlas:MTM1, GeneCard:MTM1, HGNC:HGNC:7448, HumanCyc Gene:HS10241, ModBase:Q13496, NCBI Gene:4534, OMIM:300415, OMIM:310400, RefSeq DNA:NG_008199, RefSeq DNA:NT_167198, RefSeq Protein:NP_000243, RefSeq RNA:NM_000252, UCSC Genome Browser:NM_000252, UniProtKB:Q13496 No chrX 149731104 149841616 150562658 150673143 +PA31252 8776 HGNC:7449 ENSG00000063601 myotubularin related protein 1 MTMR1 Yes No Comparative Toxicogenomics Database:8776, Ensembl:ENSG00000063601, GenAtlas:MTMR1, GeneCard:MTMR1, HGNC:HGNC:7449, HumanCyc Gene:HS00785, ModBase:Q13613, NCBI Gene:8776, OMIM:300171, RefSeq DNA:NG_012551, RefSeq DNA:NT_167198, RefSeq Protein:NP_003819, RefSeq RNA:NM_003828, UCSC Genome Browser:NM_003828, UniProtKB:Q13613, UniProtKB:Q8NEC6 No chrX 149861837 149933575 150692997 150765103 +PA128394676 54893 HGNC:25999 ENSG00000166912 myotubularin related protein 10 MTMR10 FLJ20313 Yes No Comparative Toxicogenomics Database:54893, Ensembl:ENSG00000166912, GeneCard:MTMR10, HGNC:HGNC:25999, HumanCyc Gene:HS15500, ModBase:Q9NXD2, NCBI Gene:54893, RefSeq DNA:NT_010194, RefSeq Protein:NP_060232, RefSeq RNA:NM_017762, UCSC Genome Browser:NM_017762, UniProtKB:Q9NXD2 No chr15 31220854 31283807 30919764 30991604 +PA142671303 10903 HGNC:24307 ENSG00000014914 myotubularin related protein 11 MTMR11 cisplatin resistance associated CRA Yes No Comparative Toxicogenomics Database:10903, Ensembl:ENSG00000014914, GeneCard:MTMR11, HGNC:HGNC:24307, HumanCyc Gene:HS12052, NCBI Gene:10903, RefSeq DNA:NT_004487, RefSeq Protein:NP_001139334, RefSeq Protein:NP_870988, RefSeq RNA:NM_001145862, RefSeq RNA:NM_181873, UniProtKB:A4FU01 No chr1 149900543 149908791 149928651 149936898 +PA128394670 54545 HGNC:18191 ENSG00000150712 myotubularin related protein 12 MTMR12 3-PAP, 3PAP, FLJ20476, KIAA1682, PIP3AP Yes Yes Comparative Toxicogenomics Database:54545, Ensembl:ENSG00000150712, GeneCard:MTMR12, HGNC:HGNC:18191, HumanCyc Gene:HS14335, ModBase:Q9C0I1, NCBI Gene:54545, OMIM:606501, RefSeq DNA:NT_006576, RefSeq Protein:NP_001035536, RefSeq RNA:NM_001040446, UCSC Genome Browser:NM_019061, UniProtKB:Q9C0I1 No chr5 32227111 32313114 32227007 32313008 +PA162396265 64419 HGNC:26190 ENSG00000163719 myotubularin related protein 14 MTMR14 egg-derived tyrosine phosphatase homolog (Drosophila) C3orf29, FLJ22405, FLJ90311, hEDTP, hJumpy Yes No Ensembl:ENSG00000163719, GeneCard:MTMR14, HGNC:HGNC:26190, HumanCyc Gene:HS08920, ModBase:Q9H6C0, NCBI Gene:64419, OMIM:160150, OMIM:611089, RefSeq DNA:NG_017068, RefSeq DNA:NT_022517, RefSeq Protein:NP_001070993, RefSeq Protein:NP_001070994, RefSeq Protein:NP_071930, RefSeq RNA:NM_001077525, RefSeq RNA:NM_001077526, RefSeq RNA:NM_022485, UniProtKB:Q8NCE2 No chr3 9691117 9744078 9649433 9702394 +PA31253 8898 HGNC:7450 ENSG00000087053 myotubularin related protein 2 MTMR2 phosphatidylinositol-3-phosphatase, phosphoinositide-3-phosphatase CMT4B, KIAA1073 Yes No Comparative Toxicogenomics Database:8898, Ensembl:ENSG00000087053, GenAtlas:MTMR2, GeneCard:MTMR2, HGNC:HGNC:7450, HumanCyc Gene:HS01548, ModBase:Q13614, NCBI Gene:8898, OMIM:601382, OMIM:603557, RefSeq DNA:NG_008333, RefSeq DNA:NT_167190, RefSeq Protein:NP_057240, RefSeq Protein:NP_958435, RefSeq Protein:NP_958438, RefSeq RNA:NM_016156, RefSeq RNA:NM_201278, RefSeq RNA:NM_201281, RefSeq RNA:NR_023356, UCSC Genome Browser:NM_016156, UniProtKB:Q13614 No chr11 95566044 95657371 95832880 95924207 +PA31254 8897 HGNC:7451 ENSG00000100330 myotubularin related protein 3 MTMR3 FYVE-DSP1, KIAA0371, ZFYVE10 Yes No Comparative Toxicogenomics Database:8897, Ensembl:ENSG00000100330, GenAtlas:MTMR3, GeneCard:MTMR3, HGNC:HGNC:7451, HumanCyc Gene:HS02045, ModBase:Q13615, NCBI Gene:8897, OMIM:603558, RefSeq DNA:NT_011520, RefSeq Protein:NP_066576, RefSeq Protein:NP_694690, RefSeq Protein:NP_694691, RefSeq RNA:NM_021090, RefSeq RNA:NM_153050, RefSeq RNA:NM_153051, UCSC Genome Browser:NM_021090, UniProtKB:Q13615 No chr22 30279149 30426857 29883165 30030868 +PA31255 9110 HGNC:7452 ENSG00000108389 myotubularin related protein 4 MTMR4 KIAA0647, ZFYVE11 Yes No Comparative Toxicogenomics Database:9110, Ensembl:ENSG00000108389, GenAtlas:MTMR4, GeneCard:MTMR4, HGNC:HGNC:7452, HumanCyc Gene:HS03097, ModBase:Q9NYA4, NCBI Gene:9110, OMIM:603559, RefSeq DNA:NT_010783, RefSeq Protein:NP_004678, RefSeq RNA:NM_004687, UCSC Genome Browser:NM_004687, UniProtKB:Q9NYA4 No chr17 56566893 56595271 58489532 58518109 +PA31256 9107 HGNC:7453 ENSG00000139505 myotubularin related protein 6 MTMR6 Yes No Comparative Toxicogenomics Database:9107, Ensembl:ENSG00000139505, GenAtlas:MTMR6, GeneCard:MTMR6, HGNC:HGNC:7453, HumanCyc Gene:HS06622, ModBase:Q9Y217, NCBI Gene:9107, OMIM:603561, RefSeq DNA:NT_024524, RefSeq Protein:NP_004676, RefSeq RNA:NM_004685, UCSC Genome Browser:NM_004685, UniProtKB:Q9Y217 No chr13 25820339 25861704 25246201 25287566 +PA31257 9108 HGNC:7454 ENSG00000003987 myotubularin related protein 7 MTMR7 Yes No Ensembl:ENSG00000003987, GenAtlas:MTMR7, GeneCard:MTMR7, HGNC:HGNC:7454, HumanCyc Gene:HS00097, ModBase:Q9Y216, NCBI Gene:9108, OMIM:603562, RefSeq DNA:NT_167187, RefSeq Protein:NP_004677, RefSeq RNA:NM_004686, UCSC Genome Browser:NM_004686, UniProtKB:B7Z9Q7, UniProtKB:B7ZAG8, UniProtKB:Q9Y216 No chr8 17154306 17271040 17296794 17413531 +PA134942633 55613 HGNC:16825 ENSG00000102043 myotubularin related protein 8 MTMR8 FLJ20126 Yes No Ensembl:ENSG00000102043, GeneCard:MTMR8, HGNC:HGNC:16825, HumanCyc Gene:HS02340, ModBase:Q96EF0, NCBI Gene:55613, RefSeq DNA:NG_016567, RefSeq DNA:NT_011669, RefSeq Protein:NP_060147, RefSeq RNA:NM_017677, UniProtKB:Q96EF0 No chrX 63487961 63615333 64268081 64395453 +PA37904 66036 HGNC:14596 ENSG00000104643 myotubularin related protein 9 MTMR9 C8orf9, DKFZp434K171, LIP-STYX, MTMR8 Yes No Comparative Toxicogenomics Database:66036, Ensembl:ENSG00000104643, GenAtlas:MTMR9, GeneCard:MTMR9, HGNC:HGNC:14596, HumanCyc Gene:HS12555, ModBase:Q96QG7, NCBI Gene:66036, OMIM:606260, RefSeq DNA:NT_077531, RefSeq Protein:NP_056273, RefSeq RNA:NM_015458, UCSC Genome Browser:NM_015458, UniProtKB:Q96QG7 No chr8 11142000 11185655 11284491 11328146 +PA143485404 55028 HGNC:29601 ENSG00000141219 mitochondrial nucleoid associated protein 1 MTNAP1 chromosome 17 open reading frame 80, migration-inducing protein 3, sperm-expressed protein 1 C17orf80, FLJ20721, HLC-8, MIG3, SPEP1 Yes No Ensembl:ENSG00000141219, GeneCard:C17orf80, HGNC:HGNC:29601, HumanCyc Gene:HS13865, ModBase:Q9BSJ5, NCBI Gene:55028, RefSeq DNA:NT_010783, RefSeq Protein:NP_001094091, RefSeq Protein:NP_001094092, RefSeq Protein:NP_060411, RefSeq RNA:NM_001100621, RefSeq RNA:NM_001100622, RefSeq RNA:NM_017941, UniProtKB:Q9BSJ5 No chr17 71228372 71245098 73232233 73248959 +PA31259 4535 HGNC:7455 ENSG00000198888 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 MT-ND1 NADH-ubiquinone oxidoreductase chain 1, complex I ND1 subunit, mitochondrially encoded NADH dehydrogenase 1 MTND1, NAD1, ND1 Yes No Comparative Toxicogenomics Database:4535, Ensembl:ENSG00000198888, GenAtlas:MT-ND1, GeneCard:MT-ND1, HGNC:HGNC:7455, ModBase:P03886, NCBI Gene:4535, OMIM:516000, RefSeq Protein:AP_000639, RefSeq Protein:NP_536843, RefSeq Protein:YP_003024026, UCSC Genome Browser:NM_173708, UniProtKB:P03886 No chrM +PA31260 4536 HGNC:7456 ENSG00000198763 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 MT-ND2 NADH-ubiquinone oxidoreductase chain 2, complex I ND2 subunit, mitochondrially encoded NADH dehydrogenase 2 MTND2, NAD2, ND2 Yes No Comparative Toxicogenomics Database:4536, Ensembl:ENSG00000198763, GenAtlas:MT-ND2, GeneCard:MT-ND2, HGNC:HGNC:7456, ModBase:P03891, NCBI Gene:4536, OMIM:516001, RefSeq Protein:AP_000640, RefSeq Protein:NP_536844, RefSeq Protein:YP_003024027, UCSC Genome Browser:NM_173709, UniProtKB:P03891 No chrM +PA31261 387315 HGNC:7457 MT-ND2 pseudogene 1 MTND2P1 Yes No GenAtlas:MTND2P1, GeneCard:MTND2P1, HGNC:HGNC:7457, NCBI Gene:387315 No chr21 37263524 37264449 35891226 35892151 +PA134908987 56168 HGNC:23767 ENSG00000229954 MT-ND2 pseudogene 2 MTND2P2 Yes No Ensembl:ENSG00000229954, GeneCard:MTND2P2, HGNC:HGNC:23767, NCBI Gene:56168, RefSeq DNA:NG_002320, RefSeq DNA:NT_011651 No chrX 102041742 102043316 102786814 102788388 +PA31262 4537 HGNC:7458 ENSG00000198840 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 MT-ND3 NADH-ubiquinone oxidoreductase chain 3, complex I ND3 subunit, mitochondrially encoded NADH dehydrogenase 3 MTND3, NAD3, ND3 Yes No Ensembl:ENSG00000198840, GenAtlas:MT-ND3, GeneCard:MT-ND3, HGNC:HGNC:7458, NCBI Gene:4537, OMIM:516002, RefSeq Protein:AP_000646, RefSeq Protein:NP_536850, RefSeq Protein:YP_003024033, UCSC Genome Browser:NM_173710 No chrM +PA31263 4538 HGNC:7459 ENSG00000198886 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 MT-ND4 NADH-ubiquinone oxidoreductase chain 4, complex I ND4 subunit, mitochondrially encoded NADH dehydrogenase 4 LHON, MTND4, NAD4, ND4 Yes No Comparative Toxicogenomics Database:4538, Ensembl:ENSG00000198886, GenAtlas:MT-ND4, GeneCard:MT-ND4, HGNC:HGNC:7459, ModBase:P03905, NCBI Gene:4538, OMIM:516003, RefSeq Protein:AP_000648, RefSeq Protein:NP_536852, RefSeq Protein:YP_003024035, UCSC Genome Browser:NM_173711, UniProtKB:P03905 No chrM +PA31264 4539 HGNC:7460 ENSG00000212907 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L MT-ND4L NADH-ubiquinone oxidoreductase chain 4L, complex I ND4L subunit, mitochondrially encoded NADH dehydrogenase 4L MTND4L, NAD4L, ND4L Yes No Ensembl:ENSG00000212907, GenAtlas:MT-ND4L, GeneCard:MT-ND4L, HGNC:HGNC:7460, NCBI Gene:4539, OMIM:516004, RefSeq Protein:AP_000647, RefSeq Protein:NP_536851, RefSeq Protein:YP_003024034, UCSC Genome Browser:NM_173712, UniProtKB:P03901 No chrM +PA31265 4540 HGNC:7461 ENSG00000198786 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 MT-ND5 NADH-ubiquinone oxidoreductase chain 5, complex I ND5 subunit, mitochondrially encoded NADH dehydrogenase 5 MTND5, NAD5, ND5 Yes No Ensembl:ENSG00000198786, GenAtlas:MT-ND5, GeneCard:MT-ND5, HGNC:HGNC:7461, NCBI Gene:4540, OMIM:516005, RefSeq Protein:AP_000649, RefSeq Protein:NP_536853, RefSeq Protein:YP_003024036, UCSC Genome Browser:NM_173713 No chrM +PA31266 4541 HGNC:7462 ENSG00000198695 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 MT-ND6 NADH-ubiquinone oxidoreductase chain 6, complex I ND6 subunit, mitochondrially encoded NADH dehydrogenase 6 MTND6, NAD6, ND6 Yes No Ensembl:ENSG00000198695, GenAtlas:MT-ND6, GeneCard:MT-ND6, HGNC:HGNC:7462, ModBase:P03923, NCBI Gene:4541, OMIM:516006, RefSeq Protein:AP_000650, RefSeq Protein:NP_536854, RefSeq Protein:YP_003024037, UCSC Genome Browser:NM_173714, UniProtKB:P03923 No chrM +PA31267 4543 HGNC:7463 ENSG00000168412 melatonin receptor 1A MTNR1A MEL-1A-R Yes No Comparative Toxicogenomics Database:4543, Ensembl:ENSG00000168412, GenAtlas:MTNR1A, GeneCard:MTNR1A, HGNC:HGNC:7463, HumanCyc Gene:HS09753, IUPHAR Receptor:287, ModBase:P48039, NCBI Gene:4543, OMIM:600665, RefSeq DNA:NT_016354, RefSeq Protein:NP_005949, RefSeq RNA:NM_005958, UCSC Genome Browser:NM_005958, UniProtKB:P48039 No chr4 187454809 187476537 186532994 186555567 +PA31268 4544 HGNC:7464 ENSG00000134640 melatonin receptor 1B MTNR1B Yes Yes Comparative Toxicogenomics Database:4544, Ensembl:ENSG00000134640, GenAtlas:MTNR1B, GeneCard:MTNR1B, HGNC:HGNC:7464, HumanCyc Gene:HS05895, IUPHAR Receptor:288, ModBase:P49286, NCBI Gene:4544, OMIM:600804, RefSeq DNA:NT_167190, RefSeq Protein:NP_005950, RefSeq RNA:NM_005959, UCSC Genome Browser:NM_005959, UniProtKB:P49286 No chr11 92702789 92715948 92969623 92986241 +PA134974199 25821 HGNC:19261 ENSG00000135297 mitochondrial tRNA translation optimization 1 MTO1 mitochondrial translation optimization 1 homolog (S. cerevisiae) Yes No Comparative Toxicogenomics Database:25821, Ensembl:ENSG00000135297, GeneCard:MTO1, HGNC:HGNC:19261, HumanCyc Gene:HS05977, ModBase:Q9Y2Z2, NCBI Gene:25821, RefSeq DNA:NT_007299, RefSeq Protein:NP_001116698, RefSeq Protein:NP_036255, RefSeq Protein:NP_598400, RefSeq RNA:NM_001123226, RefSeq RNA:NM_012123, RefSeq RNA:NM_133645, UniProtKB:Q9Y2Z2 No chr6 74171454 74211179 73461727 73501456 +PA28360 2475 HGNC:3942 ENSG00000198793 mechanistic target of rapamycin kinase MTOR FK506 binding protein 12-rapamycin associated protein 2, FKBP-rapamycin associated protein, FKBP12-rapamycin complex-associated protein 1, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), mammalian target of rapamycin, mechanistic target of rapamycin (serine/threonine kinase), rapamycin and FKBP12 target 1, rapamycin associated protein FRAP2, rapamycin target protein FLJ44809, FRAP, FRAP1, FRAP2, RAFT1, RAPT1 Yes Yes Comparative Toxicogenomics Database:2475, Ensembl:ENSG00000198793, GenAtlas:FRAP1, GeneCard:FRAP1, GeneCard:MTOR, HGNC:HGNC:3942, HumanCyc Gene:HS01439, ModBase:P42345, NCBI Gene:2475, OMIM:601231, RefSeq DNA:NT_021937, RefSeq Protein:NP_004949, RefSeq RNA:NM_004958, UCSC Genome Browser:NM_004958, UniProtKB:P42345 No chr1 11166588 11322614 11106531 11262551 +PA164723192 55149 HGNC:25532 ENSG00000107951 mitochondrial poly(A) polymerase MTPAP TUTase1 FLJ10486, PAPD1, SPAX4, TENT6, mtPAP Yes No Ensembl:ENSG00000107951, GeneCard:MTPAP, HGNC:HGNC:25532, HumanCyc Gene:HS03048, NCBI Gene:55149, RefSeq DNA:NT_008705, RefSeq Protein:NP_060579, RefSeq RNA:NM_018109, UniProtKB:Q9NVV4 No chr10 30598730 30638267 30309801 30349338 +PA31271 136319 HGNC:15667 ENSG00000105887 myotrophin MTPN granule cell differentiation protein GCDP, MYOTROPHIN, V-1 Yes No Comparative Toxicogenomics Database:136319, Ensembl:ENSG00000105887, GenAtlas:MTPN, GeneCard:MTPN, HGNC:HGNC:15667, HumanCyc Gene:HS02827, ModBase:P58546, NCBI Gene:136319, OMIM:606484, RefSeq DNA:NG_008063, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_665807, RefSeq RNA:NM_145808, UCSC Genome Browser:NM_145808, UniProtKB:P58546 No chr7 135611503 135662204 135926755 135977456 +PA31272 4548 HGNC:7468 ENSG00000116984 5-methyltetrahydrofolate-homocysteine methyltransferase MTR Methionine synthase cblG Yes Yes Comparative Toxicogenomics Database:4548, Ensembl:ENSG00000116984, GenAtlas:MTR, GeneCard:MTR, HGNC:HGNC:7468, HumanCyc Gene:HS04076, ModBase:Q99707, NCBI Gene:4548, OMIM:119530, OMIM:156570, OMIM:190685, OMIM:250940, OMIM:601634, RefSeq DNA:NG_008959, RefSeq DNA:NT_167186, RefSeq Protein:NP_000245, RefSeq RNA:NM_000254, UCSC Genome Browser:NM_000254, UniProtKB:Q99707 No chr1 236958581 237067281 236794304 236903981 +PA166351976 51250 HGNC:17971 mitochondrial transcription rescue factor 1 MTRES1 C6orf203, HSPC230, PRED31 Yes No HGNC:HGNC:17971, NCBI Gene:51250 No 0 0 0 0 +PA134901921 23517 HGNC:18734 ENSG00000039123 Mtr4 exosome RNA helicase MTREX functional spliceosome-associated protein 118, superkiller viralicidic activity 2-like 2 (S. cerevisiae) Dob1, KIAA0052, Mtr4, SKIV2L2, fSAP118 Yes No Comparative Toxicogenomics Database:23517, Ensembl:ENSG00000039123, GeneCard:SKIV2L2, HGNC:HGNC:18734, HumanCyc Gene:HS00539, ModBase:P42285, NCBI Gene:23517, RefSeq DNA:NT_006713, RefSeq Protein:NP_056175, RefSeq RNA:NM_015360, UniProtKB:P42285 No chr5 54603576 54721409 55307748 55425581 +PA31273 9617 HGNC:7469 ENSG00000120662 mitochondrial translation release factor 1 MTRF1 mitochondrial translational release factor 1, mitochontrial peptide chain release factor 1 MGC47721, MTTRF1, RF1 Yes No Comparative Toxicogenomics Database:9617, Ensembl:ENSG00000120662, GenAtlas:MTRF1, GeneCard:MTRF1, HGNC:HGNC:7469, HumanCyc Gene:HS04416, ModBase:O75570, NCBI Gene:9617, OMIM:604601, RefSeq DNA:NT_024524, RefSeq Protein:NP_004285, RefSeq RNA:NM_004294, UCSC Genome Browser:NM_004294, UniProtKB:O75570 No chr13 41790505 41837731 41216369 41311794 +PA134870441 54516 HGNC:21051 ENSG00000112031 mitochondrial translation release factor 1 like MTRF1L mitochondrial translational release factor 1 like, mitochondrial translational release factor 1-like HMRF1L, mtRF1a Yes Yes Comparative Toxicogenomics Database:54516, Ensembl:ENSG00000112031, GeneCard:MTRF1L, HGNC:HGNC:21051, HumanCyc Gene:HS03499, ModBase:Q9UGC7, NCBI Gene:54516, RefSeq DNA:NT_025741, RefSeq Protein:NP_001107656, RefSeq Protein:NP_061914, RefSeq RNA:NM_001114184, RefSeq RNA:NM_019041, UniProtKB:Q9UGC7 No chr6 153308400 153323925 152987349 153007301 +PA166351977 91574 HGNC:26784 mitochondrial translation release factor in rescue MTRFR C12orf65, COXPD7, FLJ38663, SPG55, mtRF-R Yes No HGNC:HGNC:26784, NCBI Gene:91574 No 0 0 0 0 +PA31274 4549 HGNC:7470 mitochondrially encoded 12S RNA MT-RNR1 Yes Yes Comparative Toxicogenomics Database:4549, GenAtlas:MT-RNR1, GeneCard:MT-RNR1, HGNC:HGNC:7470, NCBI Gene:4549, OMIM:561000 Yes chrM +PA31275 4550 HGNC:7471 mitochondrially encoded 16S RNA MT-RNR2 Yes No GenAtlas:MT-RNR2, GeneCard:MT-RNR2, HGNC:HGNC:7471, NCBI Gene:4550, OMIM:561010 No chrM +PA165432208 100462977 HGNC:37155 ENSG00000256618 MT-RNR2 like 1 MTRNR2L1 MT-RNR2-like 1, humanin-like 1 Yes No Ensembl:ENSG00000256618, HGNC:HGNC:37155, NCBI Gene:100462977, RefSeq Protein:NP_001177381, RefSeq RNA:NM_001190452 No chr17 22022437 22023991 22523111 22524665 +PA165757021 100463488 HGNC:37167 ENSG00000256045 MT-RNR2 like 10 MTRNR2L10 MT-RNR2-like 10, humanin-like 10 Yes No Ensembl:ENSG00000256045, HGNC:HGNC:37167, NCBI Gene:100463488, RefSeq Protein:NP_001177637, RefSeq RNA:NM_001190708 No chrX 55207824 55208944 55181391 55182511 +PA166123704 100463498 HGNC:37169 ENSG00000269028 MT-RNR2-like 12 MTRNR2L12 humanin-like 12 Yes No Ensembl:ENSG00000269028, HGNC:HGNC:37169, NCBI Gene:100463498 No +PA166123705 100463500 HGNC:37170 ENSG00000270394 MT-RNR2-like 13 MTRNR2L13 humanin-like 13 Yes No Ensembl:ENSG00000270394, HGNC:HGNC:37170, NCBI Gene:100463500 No +PA165660387 100462981 HGNC:37156 ENSG00000271043 MT-RNR2-like 2 MTRNR2L2 Yes No Ensembl:ENSG00000271043, HGNC:HGNC:37156, NCBI Gene:100462981, RefSeq Protein:NP_001177399, RefSeq RNA:NM_001190470 No chr5 79945819 79946854 80650000 80651035 +PA165392403 100462983 HGNC:37157 ENSG00000256222 MT-RNR2 like 3 MTRNR2L3 MT-RNR2-like 3, humanin-like 3 Yes No Ensembl:ENSG00000256222, HGNC:HGNC:37157, NCBI Gene:100462983, RefSeq Protein:NP_001177401, RefSeq RNA:NM_001190472 No chr20 55933496 55934878 57358440 57359822 +PA165450236 100463285 HGNC:37161 ENSG00000232196 MT-RNR2 like 4 MTRNR2L4 MT-RNR2-like 4, humanin-like 4 Yes No Ensembl:ENSG00000232196, HGNC:HGNC:37161, NCBI Gene:100463285, RefSeq Protein:NP_001177405, RefSeq RNA:NM_001190476 No chr16 3421053 3422283 3371053 3372283 +PA165548889 100463289 HGNC:37162 ENSG00000249860 MT-RNR2 like 5 MTRNR2L5 MT-RNR2-like 5, humanin-like 5 Yes No Ensembl:ENSG00000249860, HGNC:HGNC:37162, NCBI Gene:100463289, RefSeq Protein:NP_001177407, RefSeq RNA:NM_001190478 No chr10 57358750 57360488 55598990 55600728 +PA165618164 100463482 HGNC:37163 ENSG00000270672 MT-RNR2 like 6 MTRNR2L6 MT-RNR2-like 6, humanin-like 6 Yes No Ensembl:ENSG00000270672, HGNC:HGNC:37163, NCBI Gene:100463482, RefSeq Protein:NP_001177416, RefSeq RNA:NM_001190487 No chr7 142374131 142375525 142666299 142667693 +PA165548890 100288485 HGNC:37164 ENSG00000256892 MT-RNR2 like 7 MTRNR2L7 MT-RNR2-like 7, humanin-like 7 Yes No Ensembl:ENSG00000256892, GeneCard:MTRNR2L7, HGNC:HGNC:37164, NCBI Gene:100288485, RefSeq DNA:NT_008705, RefSeq Protein:NP_001177418, RefSeq RNA:NM_001190489 No chr10 37890366 37891859 37601438 37602931 +PA165543496 100463486 HGNC:37165 ENSG00000255823 MT-RNR2 like 8 MTRNR2L8 MT-RNR2-like 8, humanin-like 8 Yes No Ensembl:ENSG00000255823, HGNC:HGNC:37165, NCBI Gene:100463486, RefSeq Protein:NP_001177631, RefSeq RNA:NM_001190702 No chr11 10529434 10530723 10507887 10509176 +PA165618129 100463487 HGNC:37166 ENSG00000255633 MT-RNR2-like 9 (pseudogene) MTRNR2L9 Yes No Ensembl:ENSG00000255633, HGNC:HGNC:37166, NCBI Gene:100463487, RefSeq Protein:NP_001177635, RefSeq RNA:NM_001190706 No chr6 62284008 62284534 61574103 61574629 +PA31277 4552 HGNC:7473 ENSG00000124275 5-methyltetrahydrofolate-homocysteine methyltransferase reductase MTRR Methionine synthase reductase cblE Yes Yes Comparative Toxicogenomics Database:4552, Ensembl:ENSG00000124275, GenAtlas:MTRR, GeneCard:MTRR, HGNC:HGNC:7473, HumanCyc Gene:HS04756, ModBase:Q9UBK8, NCBI Gene:4552, OMIM:236270, OMIM:601634, OMIM:602568, RefSeq DNA:NG_008856, RefSeq DNA:NT_006576, RefSeq Protein:NP_002445, RefSeq Protein:NP_076915, RefSeq RNA:NM_002454, RefSeq RNA:NM_024010, UCSC Genome Browser:NM_002454, UniProtKB:Q7Z4M8, UniProtKB:Q9UBK8 No chr5 7851299 7901237 7869104 7901124 +PA134892011 9788 HGNC:20443 ENSG00000170873 MTSS I-BAR domain containing 1 MTSS1 """MTSS1, I-BAR domain containing"", ""metastasis suppressor 1"", ""missing in metastasis""" KIAA0429, MIM, MIMA, MIMB Yes No Comparative Toxicogenomics Database:9788, Ensembl:ENSG00000170873, GeneCard:MTSS1, HGNC:HGNC:20443, HumanCyc Gene:HS15927, ModBase:O43312, NCBI Gene:9788, OMIM:608486, RefSeq DNA:NT_008046, RefSeq Protein:NP_055566, RefSeq RNA:NM_014751, UniProtKB:O43312 No chr8 125563025 125740730 124550770 124728507 +PA164723215 92154 HGNC:25094 ENSG00000132613 MTSS I-BAR domain containing 2 MTSS2 """MTSS1L, I-BAR domain containing"", ""actin-bundling protein with BAIAP2 homology"", ""metastasis suppressor 1-like""" ABBA, ABBA-1, LOC92154, MTSS1L Yes No Ensembl:ENSG00000132613, GeneCard:MTSS1L, HGNC:HGNC:25094, NCBI Gene:92154, RefSeq DNA:NT_010498, RefSeq Protein:NP_612392, RefSeq RNA:NM_138383, UniProtKB:Q765P7 No chr16 70695107 70719954 70661204 70686207 +PA31278 4553 HGNC:7475 mitochondrially encoded tRNA alanine MT-TA Yes No GenAtlas:MT-TA, GeneCard:MT-TA, HGNC:HGNC:7475, NCBI Gene:4553, OMIM:590000 No chrM +PA31280 4511 HGNC:7477 mitochondrially encoded tRNA cysteine MT-TC Yes No GenAtlas:MT-TC, GeneCard:MT-TC, HGNC:HGNC:7477, NCBI Gene:4511, OMIM:590020 No chrM +PA31281 4555 HGNC:7478 mitochondrially encoded tRNA aspartic acid MT-TD Yes No GenAtlas:MT-TD, GeneCard:MT-TD, HGNC:HGNC:7478, NCBI Gene:4555, OMIM:590015 No chrM +PA31282 4556 HGNC:7479 mitochondrially encoded tRNA glutamic acid MT-TE Yes No GenAtlas:MT-TE, GeneCard:MT-TE, HGNC:HGNC:7479, NCBI Gene:4556, OMIM:590025 No chrM +PA31284 4558 HGNC:7481 mitochondrially encoded tRNA phenylalanine MT-TF Yes No GenAtlas:MT-TF, GeneCard:MT-TF, HGNC:HGNC:7481, NCBI Gene:4558, OMIM:590070 No chrM +PA31289 4563 HGNC:7486 mitochondrially encoded tRNA glycine MT-TG Yes No GenAtlas:MT-TG, GeneCard:MT-TG, HGNC:HGNC:7486, NCBI Gene:4563, OMIM:590035 No chrM +PA31290 4564 HGNC:7487 mitochondrially encoded tRNA histidine MT-TH Yes No GenAtlas:MT-TH, GeneCard:MT-TH, HGNC:HGNC:7487, NCBI Gene:4564, OMIM:590040 No chrM +PA31291 4565 HGNC:7488 mitochondrially encoded tRNA isoleucine MT-TI Yes No GenAtlas:MT-TI, GeneCard:MT-TI, HGNC:HGNC:7488, NCBI Gene:4565, OMIM:590045 No chrM +PA31292 4566 HGNC:7489 mitochondrially encoded tRNA lysine MT-TK Yes No GenAtlas:MT-TK, GeneCard:MT-TK, HGNC:HGNC:7489, NCBI Gene:4566, OMIM:590060 No chrM +PA31293 4567 HGNC:7490 mitochondrially encoded tRNA leucine 1 (UUA/G) MT-TL1 Yes No GenAtlas:MT-TL1, GeneCard:MT-TL1, HGNC:HGNC:7490, NCBI Gene:4567, OMIM:590050 No chrM +PA31294 4568 HGNC:7491 mitochondrially encoded tRNA leucine 2 (CUN) MT-TL2 Yes No GenAtlas:MT-TL2, GeneCard:MT-TL2, HGNC:HGNC:7491, NCBI Gene:4568 No chrM +PA31295 4569 HGNC:7492 mitochondrially encoded tRNA methionine MT-TM Yes No GenAtlas:MT-TM, GeneCard:MT-TM, HGNC:HGNC:7492, NCBI Gene:4569, OMIM:590065 No chrM +PA31296 4570 HGNC:7493 mitochondrially encoded tRNA asparagine MT-TN Yes No GenAtlas:MT-TN, GeneCard:MT-TN, HGNC:HGNC:7493, NCBI Gene:4570, OMIM:590010 No chrM +PA31297 4571 HGNC:7494 mitochondrially encoded tRNA proline MT-TP Yes No GenAtlas:MT-TP, GeneCard:MT-TP, HGNC:HGNC:7494, NCBI Gene:4571, OMIM:590075 No chrM +PA164742099 4547 HGNC:7467 ENSG00000138823 microsomal triglyceride transfer protein MTTP ABL, MTP Yes Yes Ensembl:ENSG00000138823, GeneCard:MTTP, HGNC:HGNC:7467, HumanCyc Gene:HS06571, ModBase:P55157, NCBI Gene:4547, OMIM:157147, OMIM:200100, OMIM:605552, RefSeq DNA:NG_011469, RefSeq DNA:NT_016354, RefSeq Protein:NP_000244, RefSeq RNA:NM_000253, UniProtKB:P55157 No chr4 100485240 100545154 99564078 99623997 +PA31298 4572 HGNC:7495 mitochondrially encoded tRNA glutamine MT-TQ Yes No GenAtlas:MT-TQ, GeneCard:MT-TQ, HGNC:HGNC:7495, NCBI Gene:4572, OMIM:590030 No chrM +PA31299 4573 HGNC:7496 mitochondrially encoded tRNA arginine MT-TR Yes No GenAtlas:MT-TR, GeneCard:MT-TR, HGNC:HGNC:7496, NCBI Gene:4573, OMIM:590005 No chrM +PA31300 4574 HGNC:7497 mitochondrially encoded tRNA serine 1 (UCN) MT-TS1 Yes No GenAtlas:MT-TS1, GeneCard:MT-TS1, HGNC:HGNC:7497, NCBI Gene:4574, OMIM:590080 No chrM +PA31301 4575 HGNC:7498 mitochondrially encoded tRNA serine 2 (AGU/C) MT-TS2 Yes No GenAtlas:MT-TS2, GeneCard:MT-TS2, HGNC:HGNC:7498, NCBI Gene:4575, OMIM:590085 No chrM +PA31302 4576 HGNC:7499 mitochondrially encoded tRNA threonine MT-TT Yes No GenAtlas:MT-TT, GeneCard:MT-TT, HGNC:HGNC:7499, NCBI Gene:4576, OMIM:590090 No chrM +PA31303 4577 HGNC:7500 mitochondrially encoded tRNA valine MT-TV Yes No GenAtlas:MT-TV, GeneCard:MT-TV, HGNC:HGNC:7500, NCBI Gene:4577, OMIM:590105 No chrM +PA31304 4578 HGNC:7501 mitochondrially encoded tRNA tryptophan MT-TW Yes No GenAtlas:MT-TW, GeneCard:MT-TW, HGNC:HGNC:7501, NCBI Gene:4578, OMIM:590095 No chrM +PA31305 4579 HGNC:7502 mitochondrially encoded tRNA tyrosine MT-TY Yes No GenAtlas:MT-TY, GeneCard:MT-TY, HGNC:HGNC:7502, NCBI Gene:4579, OMIM:590100 No chrM +PA147358571 222166 HGNC:25457 ENSG00000180354 maturin, neural progenitor differentiation regulator homolog MTURN """chromosome 7 open reading frame 41"", ""maturin, neural progenitor differentiation regulator homolog (Xenopus)""" C7orf41, Ells1, FLJ25903 Yes No Ensembl:ENSG00000180354, GeneCard:C7orf41, HGNC:HGNC:25457, HumanCyc Gene:HS17487, NCBI Gene:222166, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_690006, RefSeq RNA:NM_152793, UniProtKB:Q8N3F0 No chr7 30174552 30202381 30134936 30162765 +PA134968054 57509 HGNC:29789 ENSG00000129422 microtubule associated scaffold protein 1 MTUS1 AT2 receptor-interacting protein, AT2R binding protein, microtubule associated tumor suppressor 1, mitochondrial tumor suppressor gene 1 ATBP, ATIP1, ATIP3, DKFZp586D1519, FLJ14295, ICIS, KIAA1288, MP44, MTSG1 Yes No Comparative Toxicogenomics Database:57509, Ensembl:ENSG00000129422, GeneCard:MTUS1, HGNC:HGNC:29789, HumanCyc Gene:HS05275, ModBase:Q9H7T2, NCBI Gene:57509, OMIM:609589, RefSeq DNA:NG_023373, RefSeq DNA:NT_167187, RefSeq Protein:NP_001001924, RefSeq Protein:NP_001001925, RefSeq Protein:NP_001001931, RefSeq Protein:NP_001159865, RefSeq Protein:NP_065800, RefSeq RNA:NM_001001924, RefSeq RNA:NM_001001925, RefSeq RNA:NM_001001931, RefSeq RNA:NM_001166393, RefSeq RNA:NM_020749, UniProtKB:B4DH03, UniProtKB:Q9ULD2 No chr8 17501303 17658729 17643794 17801579 +PA165505194 23281 HGNC:20595 ENSG00000132938 microtubule associated scaffold protein 2 MTUS2 +TIP of 150 kDa, cardiac zipper protein, microtubule associated tumor suppressor candidate 2 CAZIP, ICIS, KIAA0774, TIP150 Yes No Ensembl:ENSG00000132938, GeneCard:MTUS2, HGNC:HGNC:20595, NCBI Gene:23281, RefSeq DNA:NT_024524, RefSeq Protein:NP_001028774, RefSeq Protein:NP_056048, RefSeq RNA:NM_001033602, RefSeq RNA:NM_015233, UniProtKB:Q5JR59 No chr13 29394485 30080084 28820314 29505947 +PA31306 4580 HGNC:7504 ENSG00000173171 metaxin 1 MTX1 MTX, MTXN Yes No Comparative Toxicogenomics Database:4580, Ensembl:ENSG00000173171, GenAtlas:MTX1, GeneCard:MTX1, HGNC:HGNC:7504, HumanCyc Gene:HS10625, ModBase:Q13505, NCBI Gene:4580, OMIM:600605, RefSeq DNA:NT_004487, RefSeq Protein:NP_002446, RefSeq Protein:NP_942584, RefSeq RNA:NM_002455, RefSeq RNA:NM_198883, UCSC Genome Browser:NM_002455, UniProtKB:Q13505 No chr1 155178490 155183625 155208699 155213839 +PA31307 4581 HGNC:7505 ENSG00000236675 metaxin 1 pseudogene 1 MTX1P1 Yes No Ensembl:ENSG00000236675, GenAtlas:MTX1P, GeneCard:MTX1P1, HGNC:HGNC:7505, NCBI Gene:4581, RefSeq DNA:NG_001160, RefSeq DNA:NG_009783, RefSeq DNA:NT_004487 No chr1 155200767 155204242 155230976 155234451 +PA31308 10651 HGNC:7506 ENSG00000128654 metaxin 2 MTX2 Yes No Ensembl:ENSG00000128654, GenAtlas:MTX2, GeneCard:MTX2, HGNC:HGNC:7506, HumanCyc Gene:HS05212, ModBase:O75431, NCBI Gene:10651, OMIM:608555, RefSeq DNA:NT_005403, RefSeq Protein:NP_001006636, RefSeq Protein:NP_006545, RefSeq RNA:NM_001006635, RefSeq RNA:NM_006554, RefSeq RNA:NR_027850, UCSC Genome Browser:NM_006554, UniProtKB:O75431 No chr2 177134123 177202753 176269395 176338025 +PA134924631 345778 HGNC:24812 ENSG00000177034 metaxin 3 MTX3 Yes No Comparative Toxicogenomics Database:345778, Ensembl:ENSG00000177034, GeneCard:MTX3, HGNC:HGNC:24812, ModBase:Q5HYI7, NCBI Gene:345778, RefSeq DNA:NT_006713, RefSeq Protein:NP_001010891, RefSeq Protein:NP_001161213, RefSeq RNA:NM_001010891, RefSeq RNA:NM_001167741, UniProtKB:Q5HYI7, UniProtKB:Q7Z380 No chr5 79272539 79287088 79976716 79991267 +PA31309 4582 HGNC:7508 ENSG00000185499 mucin 1, cell surface associated MUC1 epithelial membrane antigen ADMCKD, ADMCKD1, CD227, Ca15-3, EMA, KL-6, MCD, MCKD, MCKD1, PEM, PUM Yes No Comparative Toxicogenomics Database:4582, Ensembl:ENSG00000185499, GenAtlas:MUC1, GeneCard:MUC1, HGNC:HGNC:7508, ModBase:Q16615, NCBI Gene:4582, OMIM:158340, RefSeq DNA:NT_004487, RefSeq Protein:NP_001018016, RefSeq Protein:NP_001018017, RefSeq Protein:NP_001037855, RefSeq Protein:NP_001037856, RefSeq Protein:NP_001037857, RefSeq Protein:NP_001037858, RefSeq Protein:NP_001191214, RefSeq Protein:NP_001191215, RefSeq Protein:NP_001191216, RefSeq Protein:NP_001191217, RefSeq Protein:NP_001191218, RefSeq Protein:NP_001191219, RefSeq Protein:NP_001191220, RefSeq Protein:NP_001191221, RefSeq Protein:NP_001191222, RefSeq Protein:NP_001191223, RefSeq Protein:NP_001191224, RefSeq Protein:NP_001191225, RefSeq Protein:NP_001191226, RefSeq Protein:NP_002447, RefSeq RNA:NM_001018016, RefSeq RNA:NM_001018017, RefSeq RNA:NM_001044390, RefSeq RNA:NM_001044391, RefSeq RNA:NM_001044392, RefSeq RNA:NM_001044393, RefSeq RNA:NM_001204285, RefSeq RNA:NM_001204286, RefSeq RNA:NM_001204287, RefSeq RNA:NM_001204288, RefSeq RNA:NM_001204289, RefSeq RNA:NM_001204290, RefSeq RNA:NM_001204291, RefSeq RNA:NM_001204292, RefSeq RNA:NM_001204293, RefSeq RNA:NM_001204294, RefSeq RNA:NM_001204295, RefSeq RNA:NM_001204296, RefSeq RNA:NM_001204297, RefSeq RNA:NM_002456, UCSC Genome Browser:NM_002456, UniProtKB:B1AVR0, UniProtKB:P15941, UniProtKB:Q0VAP5, UniProtKB:Q0VAP6, UniProtKB:Q7Z547, UniProtKB:Q7Z550, UniProtKB:Q7Z551 No chr1 155158300 155162768 155185824 155192915 +PA31311 10071 HGNC:7510 ENSG00000205277 mucin 12, cell surface associated MUC12 MUC11 Yes No Ensembl:ENSG00000205277, GenAtlas:MUC12, GeneCard:MUC12, HGNC:HGNC:7510, NCBI Gene:10071, OMIM:604609, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001157934, RefSeq Protein:XP_001714452, RefSeq Protein:XP_001724995, RefSeq Protein:XP_379904, RefSeq Protein:XP_941408, RefSeq RNA:NM_001164462, RefSeq RNA:XM_001714400, RefSeq RNA:XM_001724943, RefSeq RNA:XM_379904, RefSeq RNA:XM_936315 No chr7 100612904 100662230 100969623 101018949 +PA31312 56667 HGNC:7511 ENSG00000173702 mucin 13, cell surface associated MUC13 DRCC1 Yes No Comparative Toxicogenomics Database:56667, Ensembl:ENSG00000173702, GenAtlas:MUC13, GeneCard:MUC13, HGNC:HGNC:7511, HumanCyc Gene:HS16243, ModBase:Q9H3R2, NCBI Gene:56667, OMIM:612181, RefSeq DNA:NT_005612, RefSeq Protein:NP_149038, RefSeq RNA:NM_033049, UCSC Genome Browser:NM_033049, UniProtKB:Q9H3R2 No chr3 124624289 124653595 124905442 124934751 +PA31313 143662 HGNC:14956 ENSG00000169550 mucin 15, cell surface associated MUC15 Yes No Ensembl:ENSG00000169550, GenAtlas:MUC15, GeneCard:MUC15, HGNC:HGNC:14956, HumanCyc Gene:HS15783, ModBase:Q8N387, NCBI Gene:143662, OMIM:608566, RefSeq DNA:NT_009237, RefSeq Protein:NP_001128563, RefSeq Protein:NP_001128564, RefSeq Protein:NP_663625, RefSeq RNA:NM_001135091, RefSeq RNA:NM_001135092, RefSeq RNA:NM_145650, UCSC Genome Browser:NM_145650, UniProtKB:Q8N387 No chr11 26580579 26593815 26559032 26572268 +PA31314 94025 HGNC:15582 ENSG00000181143 mucin 16, cell surface associated MUC16 cancer antigen 125 CA-125, CA125, FLJ14303 Yes Yes Comparative Toxicogenomics Database:94025, Ensembl:ENSG00000181143, GenAtlas:MUC16, GeneCard:MUC16, HGNC:HGNC:15582, NCBI Gene:94025, OMIM:606154, RefSeq DNA:NT_011295, RefSeq Protein:NP_078966, RefSeq Protein:XP_002345182, RefSeq RNA:NM_024690, RefSeq RNA:XM_002345141, UCSC Genome Browser:NM_024690, UniProtKB:Q8WXI7 No chr19 8959516 9092018 8848840 9010390 +PA31315 140453 HGNC:16800 ENSG00000169876 mucin 17, cell surface associated MUC17 Yes No Ensembl:ENSG00000169876, GenAtlas:MUC17, GeneCard:MUC17, HGNC:HGNC:16800, HumanCyc Gene:HS10023, NCBI Gene:140453, OMIM:608424, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001035194, RefSeq RNA:NM_001040105, UniProtKB:Q685J3 No chr7 100663364 100702140 101020083 101058859 +PA134898689 283463 HGNC:14362 ENSG00000205592 mucin 19, oligomeric (gene/pseudogene) MUC19 mucin 19, oligomeric FLJ35746 Yes No Ensembl:ENSG00000205592, GeneCard:MUC19, HGNC:HGNC:14362, NCBI Gene:283463, OMIM:612170, RefSeq DNA:NT_029419, RefSeq Protein:XP_002343204, RefSeq Protein:XP_002344702, RefSeq Protein:XP_002347352, RefSeq Protein:XP_003403572, RefSeq Protein:XP_003403574, RefSeq RNA:XM_002343163, RefSeq RNA:XM_002344661, RefSeq RNA:XM_002347311, RefSeq RNA:XM_003403524, RefSeq RNA:XM_003403526, RefSeq RNA:XR_110350 No chr12 40791677 40964632 40393394 40570757 +PA31316 4583 HGNC:7512 ENSG00000198788 mucin 2, oligomeric mucus/gel-forming MUC2 mucin-like protein MLP, MUC-2 Yes No Comparative Toxicogenomics Database:4583, Ensembl:ENSG00000198788, GenAtlas:MUC2, GeneCard:MUC2, HGNC:HGNC:7512, ModBase:Q02817, NCBI Gene:4583, OMIM:158370, RefSeq DNA:NT_009237, RefSeq Protein:NP_002448, RefSeq RNA:NM_002457, UCSC Genome Browser:NM_002457, UniProtKB:Q02817 No chr11 1074875 1104417 1074875 1110508 +PA134939730 200958 HGNC:23282 ENSG00000176945 mucin 20, cell surface associated MUC20 FLJ14408, KIAA1359 Yes No Ensembl:ENSG00000176945, GeneCard:MUC20, HGNC:HGNC:23282, HumanCyc Gene:HS16756, NCBI Gene:200958, OMIM:610360, RefSeq DNA:NT_029928, RefSeq Protein:NP_001091986, RefSeq Protein:NP_689886, RefSeq RNA:NM_001098516, RefSeq RNA:NM_152673, UniProtKB:Q8N307 No chr3 195416293 195467004 195720882 195733553 +PA162396305 394263 HGNC:21661 ENSG00000204544 mucin 21, cell surface associated MUC21 epiglycanin C6orf205, bCX31G15.2 Yes No Ensembl:ENSG00000204544, GeneCard:MUC21, HGNC:HGNC:21661, ModBase:Q5SSG8, NCBI Gene:394263, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001010909, RefSeq RNA:NM_001010909, UniProtKB:Q5SSG8 No chr6 30951485 30957675 30983708 30988637 +PA166049041 100507679 HGNC:39755 ENSG00000261272 mucin 22 MUC22 panbronchiolitis related mucin-like 1 PBMUCL1 Yes No Ensembl:ENSG00000261272, HGNC:HGNC:39755, NCBI Gene:100507679 No chr6 30973729 31003179 31005952 31035402 +PA31317 4584 HGNC:7513 ENSG00000169894 mucin 3A, cell surface associated MUC3A MUC3 Yes No Comparative Toxicogenomics Database:4584, Ensembl:ENSG00000169894, GenAtlas:MUC3A, GeneCard:MUC3A, HGNC:HGNC:7513, NCBI Gene:4584, OMIM:158371, OMIM:191390, RefSeq DNA:NT_007933, RefSeq Protein:XP_001719551, RefSeq Protein:XP_001725406, RefSeq RNA:XM_001719499, RefSeq RNA:XM_001725354 No chr7 100547086 100611617 100949054 100968347 +PA31318 57876 HGNC:13384 mucin 3B, cell surface associated MUC3B Yes No GenAtlas:MUC3B, GeneCard:MUC3B, HGNC:HGNC:13384, HumanCyc Gene:HS10028, ModBase:Q9H195, NCBI Gene:57876, OMIM:605633, RefSeq Protein:XP_001125753, RefSeq Protein:XP_001719378, RefSeq RNA:XM_001125753, RefSeq RNA:XM_001719326 No chr7 +PA31319 4585 HGNC:7514 ENSG00000145113 mucin 4, cell surface associated MUC4 ascites sialoglycoprotein ASGP, MUC-4 Yes No Comparative Toxicogenomics Database:4585, Ensembl:ENSG00000145113, GenAtlas:MUC4, GeneCard:MUC4, HGNC:HGNC:7514, HumanCyc Gene:HS07228, NCBI Gene:4585, OMIM:158372, RefSeq DNA:NT_029928, RefSeq Protein:NP_004523, RefSeq Protein:NP_060876, RefSeq Protein:NP_612154, RefSeq RNA:NM_004532, RefSeq RNA:NM_018406, RefSeq RNA:NM_138297, UCSC Genome Browser:NM_004532, UniProtKB:A0T3F4, UniProtKB:O76037, UniProtKB:Q99102 No chr3 195473636 195539148 195746765 195811973 +PA31320 4586 HGNC:7515 ENSG00000215182 mucin 5AC, oligomeric mucus/gel-forming MUC5AC MUC5 Yes No Comparative Toxicogenomics Database:4586, Ensembl:ENSG00000215182, GenAtlas:MUC5AC, GeneCard:MUC5AC, HGNC:HGNC:7515, NCBI Gene:4586, OMIM:158373, RefSeq DNA:NT_009237, RefSeq Protein:NP_059981, RefSeq Protein:XP_001717932, RefSeq Protein:XP_003403498, RefSeq RNA:NM_017511, RefSeq RNA:XM_001717880, RefSeq RNA:XM_003403450 No chr11 1142474 1162465 1157953 1201138 +PA31321 727897 HGNC:7516 ENSG00000117983 mucin 5B, oligomeric mucus/gel-forming MUC5B mucin MG1 MG1, MUC-5B, MUC5 Yes Yes Ensembl:ENSG00000117983, GenAtlas:MUC5B, GeneCard:MUC5B, HGNC:HGNC:7516, ModBase:Q7M4S5, NCBI Gene:727897, OMIM:600770, RefSeq DNA:NT_009237, RefSeq Protein:NP_002449, RefSeq RNA:NM_002458, UniProtKB:Q9HC84 No chr11 1244295 1283406 1223065 1262176 +PA31322 4588 HGNC:7517 ENSG00000184956 mucin 6, oligomeric mucus/gel-forming (gene/pseudogene) MUC6 mucin 6, oligomeric mucus/gel-forming MUC-6 Yes No Ensembl:ENSG00000184956, GenAtlas:MUC6, GeneCard:MUC6, HGNC:HGNC:7517, NCBI Gene:4588, OMIM:158374, RefSeq DNA:NT_009237, RefSeq Protein:NP_005952, RefSeq RNA:NM_005961 No chr11 1012824 1036706 1012824 1036706 +PA31323 4589 HGNC:7518 ENSG00000171195 mucin 7, secreted MUC7 mucin MG2 FLJ27047, MG2 Yes No Comparative Toxicogenomics Database:4589, Ensembl:ENSG00000171195, GenAtlas:MUC7, GeneCard:MUC7, HGNC:HGNC:7518, ModBase:Q8TAX7, NCBI Gene:4589, OMIM:158375, OMIM:600807, RefSeq DNA:NG_012348, RefSeq DNA:NT_022778, RefSeq Protein:NP_001138478, RefSeq Protein:NP_001138479, RefSeq Protein:NP_689504, RefSeq RNA:NM_001145006, RefSeq RNA:NM_001145007, RefSeq RNA:NM_152291, UCSC Genome Browser:NM_152291, UniProtKB:Q8TAX7 No chr4 71296209 71348714 70430492 70482997 +PA31324 100129528 HGNC:7519 mucin 8 MUC8 Yes No GenAtlas:MUC8, GeneCard:MUC8, HGNC:HGNC:7519, NCBI Gene:100129528, OMIM:601932 No chr12 133049334 133050840 132471092 132476638 +PA162396316 118430 HGNC:30588 ENSG00000172551 mucin like 1 MUCL1 mucin-like 1, small breast epithelial mucin SBEM Yes No Ensembl:ENSG00000172551, GeneCard:MUCL1, HGNC:HGNC:30588, HumanCyc Gene:HS16099, NCBI Gene:118430, OMIM:610857, RefSeq DNA:NT_029419, RefSeq Protein:NP_477521, RefSeq RNA:NM_058173, UniProtKB:Q96DR8 No chr12 55248299 55252177 54854515 54858393 +PA134926573 135656 HGNC:21666 ENSG00000168631 mucin like 3 MUCL3 diffuse panbronchiolitis critical region 1 C6orf37, DPCR1, PBLT, bCX105N19.6 Yes Yes Comparative Toxicogenomics Database:135656, Ensembl:ENSG00000168631, GeneCard:DPCR1, HGNC:HGNC:21666, HumanCyc Gene:HS15694, NCBI Gene:135656, OMIM:604809, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167248, RefSeq Protein:NP_543146, RefSeq RNA:NM_080870, UniProtKB:Q3MIW9 No chr6 30908777 30921998 30941000 30954221 +PA162396329 79594 HGNC:25762 ENSG00000090432 mitochondrial E3 ubiquitin protein ligase 1 MUL1 growth inhibition and death E3 ligase, mitochondria-anchored protein ligase, mitochondrial ubiquitin ligase activator of NFKB 1, ring finger protein 218 C1orf166, FLJ12875, GIDE, MAPL, MULAN, RNF218 Yes No Ensembl:ENSG00000090432, GeneCard:MUL1, HGNC:HGNC:25762, HumanCyc Gene:HS12329, ModBase:Q969V5, NCBI Gene:79594, OMIM:612037, RefSeq DNA:NT_004610, RefSeq Protein:NP_078820, RefSeq RNA:NM_024544, UniProtKB:Q969V5 No chr1 20825941 20834674 20499448 20508483 +PA134881809 80198 HGNC:29814 ENSG00000172732 MUS81 structure-specific endonuclease subunit MUS81 MUS81 endonuclease homolog (S. cerevisiae), SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae) FLJ44872, SLX3 Yes No Comparative Toxicogenomics Database:80198, Ensembl:ENSG00000172732, GeneCard:MUS81, HGNC:HGNC:29814, HumanCyc Gene:HS10560, ModBase:Q96NY9, NCBI Gene:80198, OMIM:606591, RefSeq DNA:NT_167190, RefSeq Protein:NP_079404, RefSeq RNA:NM_025128, UniProtKB:Q53ES5, UniProtKB:Q96NY9 No chr11 65627872 65633914 65860244 65866443 +PA31326 4593 HGNC:7525 ENSG00000030304 muscle associated receptor tyrosine kinase MUSK muscle, skeletal, receptor tyrosine kinase Yes No Comparative Toxicogenomics Database:4593, Ensembl:ENSG00000030304, GenAtlas:MUSK, GeneCard:MUSK, HGNC:HGNC:7525, HumanCyc Gene:HS00477, ModBase:O15146, NCBI Gene:4593, OMIM:601296, OMIM:608931, RefSeq DNA:NG_016016, RefSeq DNA:NT_008470, RefSeq Protein:NP_001159752, RefSeq Protein:NP_001159753, RefSeq Protein:NP_005583, RefSeq RNA:NM_001166280, RefSeq RNA:NM_001166281, RefSeq RNA:NM_005592, UCSC Genome Browser:NM_005592, UniProtKB:O15146 No chr9 113430935 113566386 110668189 110806633 +PA134991411 389125 HGNC:22144 ENSG00000272573 musculoskeletal, embryonic nuclear protein 1 MUSTN1 Mustang Yes No Comparative Toxicogenomics Database:389125, Ensembl:ENSG00000272573, GeneCard:MUSTN1, HGNC:HGNC:22144, NCBI Gene:389125, RefSeq DNA:NT_022517, RefSeq Protein:NP_995325, RefSeq RNA:NM_205853, UniProtKB:Q8IVN3 No chr3 52867131 52869235 52833115 52835219 +PA31328 4595 HGNC:7527 ENSG00000132781 mutY DNA glycosylase MUTYH mutY homolog, mutY homolog (E. coli) MYH Yes Yes Comparative Toxicogenomics Database:4595, Ensembl:ENSG00000132781, GenAtlas:MUTYH, GeneCard:MUTYH, HGNC:HGNC:7527, HumanCyc Gene:HS05690, ModBase:Q9UIF7, NCBI Gene:4595, OMIM:132600, OMIM:137215, OMIM:604933, OMIM:608456, RefSeq DNA:NG_008189, RefSeq DNA:NT_032977, RefSeq Protein:NP_001041636, RefSeq Protein:NP_001041637, RefSeq Protein:NP_001041638, RefSeq Protein:NP_001041639, RefSeq Protein:NP_001121897, RefSeq Protein:NP_036354, RefSeq RNA:NM_001048171, RefSeq RNA:NM_001048172, RefSeq RNA:NM_001048173, RefSeq RNA:NM_001048174, RefSeq RNA:NM_001128425, RefSeq RNA:NM_012222, UCSC Genome Browser:NM_012222, UniProtKB:Q9UIF7 No chr1 45794914 45806142 45329242 45340925 +PA162385826 93343 HGNC:25153 ENSG00000141971 multivesicular body subunit 12A MVB12A FAM125A, FLJ32495 Yes No Ensembl:ENSG00000141971, GeneCard:FAM125A, HGNC:HGNC:25153, HumanCyc Gene:HS13917, ModBase:Q96EY5, NCBI Gene:93343, RefSeq DNA:NT_011295, RefSeq Protein:NP_612410, RefSeq RNA:NM_138401, UniProtKB:Q96EY5 No chr19 17516512 17536141 17405686 17425339 +PA162385827 89853 HGNC:23368 ENSG00000196814 multivesicular body subunit 12B MVB12B C9orf28, FAM125B, FLJ00001 Yes No Ensembl:ENSG00000196814, GeneCard:FAM125B, HGNC:HGNC:23368, ModBase:Q9H7P6, NCBI Gene:89853, RefSeq DNA:NT_008470, RefSeq Protein:NP_001011703, RefSeq Protein:NP_258257, RefSeq RNA:NM_001011703, RefSeq RNA:NM_033446, UniProtKB:Q9H7P6 No chr9 129089123 129269320 126326844 126507041 +PA31330 4597 HGNC:7529 ENSG00000167508 mevalonate diphosphate decarboxylase MVD diphosphomevalonate decarboxylase, mevalonate (diphospho) decarboxylase, mevalonate pyrophosphate decarboxylase MPD Yes No Comparative Toxicogenomics Database:4597, Ensembl:ENSG00000167508, GenAtlas:MVD, GeneCard:MVD, HGNC:HGNC:7529, HumanCyc Gene:HS09566, ModBase:P53602, NCBI Gene:4597, OMIM:603236, RefSeq DNA:NT_010542, RefSeq Protein:NP_002452, RefSeq RNA:NM_002461, UCSC Genome Browser:NM_002461, UniProtKB:P53602 No chr16 88718343 88729495 88651935 88663153 +PA31331 4598 HGNC:7530 ENSG00000110921 mevalonate kinase MVK LH receptor mRNA-binding protein, mevalonic aciduria LRBP, MK Yes Yes Comparative Toxicogenomics Database:4598, Ensembl:ENSG00000110921, GenAtlas:MVK, GeneCard:MVK, HGNC:HGNC:7530, HumanCyc Gene:HS03355, ModBase:Q03426, NCBI Gene:4598, OMIM:251170, OMIM:260920, OMIM:610377, RefSeq DNA:NG_007702, RefSeq DNA:NT_009775, RefSeq Protein:NP_000422, RefSeq Protein:NP_001107657, RefSeq RNA:NM_000431, RefSeq RNA:NM_001114185, UCSC Genome Browser:NM_000431, UniProtKB:B2RDU6, UniProtKB:Q03426 No chr12 110011500 110035071 109573285 109597270 +PA31332 9961 HGNC:7531 ENSG00000013364 major vault protein MVP lung resistance-related protein LRP, VAULT1 Yes No Comparative Toxicogenomics Database:9961, Ensembl:ENSG00000013364, GenAtlas:MVP, GeneCard:MVP, HGNC:HGNC:7531, HumanCyc Gene:HS00345, ModBase:Q14764, NCBI Gene:9961, OMIM:605088, RefSeq DNA:NT_010393, RefSeq Protein:NP_005106, RefSeq Protein:NP_059447, RefSeq RNA:NM_005115, RefSeq RNA:NM_017458, UCSC Genome Browser:NM_005115, UniProtKB:Q14764 No chr16 29831715 29859360 29820394 29848039 +PA31333 4599 HGNC:7532 ENSG00000157601 MX dynamin like GTPase 1 MX1 """MX dynamin-like GTPase 1"", ""interferon-inducible protein p78"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)""" IFI-78K, MxA, lncMX1-215 Yes No Comparative Toxicogenomics Database:4599, Ensembl:ENSG00000157601, GenAtlas:MX1, GeneCard:MX1, HGNC:HGNC:7532, HumanCyc Gene:HS08228, ModBase:P20591, NCBI Gene:4599, OMIM:147150, RefSeq DNA:NT_011512, RefSeq Protein:NP_001138397, RefSeq Protein:NP_001171517, RefSeq Protein:NP_002453, RefSeq RNA:NM_001144925, RefSeq RNA:NM_001178046, RefSeq RNA:NM_002462, UCSC Genome Browser:NM_002462, UniProtKB:B2RDA5, UniProtKB:B3KU10, UniProtKB:P20591 No chr21 42792520 42831141 41420329 41459214 +PA31334 4600 HGNC:7533 ENSG00000183486 MX dynamin like GTPase 2 MX2 MX dynamin-like GTPase 2, interferon-regulated resistance GTP-binding protein MXB, myxovirus (influenza virus) resistance 2 (mouse), second interferon-induced protein p78 MXB Yes No Comparative Toxicogenomics Database:4600, Ensembl:ENSG00000183486, GenAtlas:MX2, GeneCard:MX2, HGNC:HGNC:7533, ModBase:P20592, NCBI Gene:4600, OMIM:147890, RefSeq DNA:NT_011512, RefSeq Protein:NP_002454, RefSeq RNA:NM_002463, UCSC Genome Browser:NM_002463, UniProtKB:P20592 No chr21 42733918 42780870 41361986 41408943 +PA30520 4084 HGNC:6761 ENSG00000059728 MAX dimerization protein 1 MXD1 MAD, MAD1, bHLHc58 Yes No Comparative Toxicogenomics Database:4084, Ensembl:ENSG00000059728, GenAtlas:MXD1, GeneCard:MXD1, HGNC:HGNC:6761, HumanCyc Gene:HS00733, ModBase:Q05195, NCBI Gene:4084, OMIM:600021, RefSeq DNA:NT_022184, RefSeq Protein:NP_001189442, RefSeq Protein:NP_001189443, RefSeq Protein:NP_002348, RefSeq RNA:NM_001202513, RefSeq RNA:NM_001202514, RefSeq RNA:NM_002357, UCSC Genome Browser:NM_002357, UniProtKB:Q05195 No chr2 70142173 70170077 69915041 69942945 +PA134892226 83463 HGNC:14008 ENSG00000213347 MAX dimerization protein 3 MXD3 MAD3, bHLHc13 Yes No Comparative Toxicogenomics Database:83463, Ensembl:ENSG00000213347, GeneCard:MXD3, HGNC:HGNC:14008, HumanCyc Gene:HS15762, ModBase:Q9BW11, NCBI Gene:83463, OMIM:609450, RefSeq DNA:NT_023133, RefSeq Protein:NP_001136407, RefSeq Protein:NP_112590, RefSeq RNA:NM_001142935, RefSeq RNA:NM_031300, UniProtKB:Q9BW11 No chr5 176732501 176741096 177305500 177312291 +PA134914966 10608 HGNC:13906 ENSG00000123933 MAX dimerization protein 4 MXD4 MAD4, MST149, MSTP149, bHLHc12 Yes No Comparative Toxicogenomics Database:10608, Ensembl:ENSG00000123933, GeneCard:MXD4, HGNC:HGNC:13906, HumanCyc Gene:HS04700, ModBase:Q14582, NCBI Gene:10608, RefSeq DNA:NT_006051, RefSeq Protein:NP_006445, RefSeq RNA:NM_006454, UniProtKB:Q14582 No chr4 2249160 2263739 2247432 2262143 +PA31335 4601 HGNC:7534 ENSG00000119950 MAX interactor 1, dimerization protein MXI1 MAD2, MXD2, MXI, bHLHc11 Yes No Comparative Toxicogenomics Database:4601, Ensembl:ENSG00000119950, GenAtlas:MXI1, GeneCard:MXI1, HGNC:HGNC:7534, HumanCyc Gene:HS04354, ModBase:P50539, NCBI Gene:4601, OMIM:176807, OMIM:600020, RefSeq DNA:NG_012103, RefSeq DNA:NT_030059, RefSeq Protein:NP_001008541, RefSeq Protein:NP_005953, RefSeq Protein:NP_569157, RefSeq RNA:NM_001008541, RefSeq RNA:NM_005962, RefSeq RNA:NM_130439, UCSC Genome Browser:NM_005962, UniProtKB:P50539, UniProtKB:Q96E53 No chr10 111967288 112047123 110207605 110287365 +PA31340 25878 HGNC:7539 ENSG00000101825 matrix remodeling associated 5 MXRA5 adlican, matrix-remodelling associated 5 DKFZp564I1922 Yes No Comparative Toxicogenomics Database:25878, Ensembl:ENSG00000101825, GenAtlas:MXRA5, GeneCard:MXRA5, HGNC:HGNC:7539, HumanCyc Gene:HS12465, ModBase:Q9NR99, NCBI Gene:25878, RefSeq DNA:NG_021336, RefSeq DNA:NT_167197, RefSeq Protein:NP_056234, RefSeq RNA:NM_015419, UniProtKB:Q9NR99 No chrX 3226606 3265133 3308565 3347098 +PA31342 439921 HGNC:7541 ENSG00000182534 matrix remodeling associated 7 MXRA7 matrix-remodelling associated 7 FLJ46603, PS1TP1, TMAP1 Yes No Comparative Toxicogenomics Database:439921, Ensembl:ENSG00000182534, GenAtlas:MXRA7, GeneCard:MXRA7, HGNC:HGNC:7541, ModBase:P84157, NCBI Gene:439921, RefSeq DNA:NT_010783, RefSeq Protein:NP_001008528, RefSeq Protein:NP_001008529, RefSeq Protein:NP_940932, RefSeq RNA:NM_001008528, RefSeq RNA:NM_001008529, RefSeq RNA:NM_198530, UniProtKB:P84157 No chr17 74669748 74707056 76673650 76711005 +PA31343 54587 HGNC:7542 ENSG00000162576 matrix remodeling associated 8 MXRA8 limitrin, matrix-remodelling associated 8 DKFZp586E2023 Yes No Comparative Toxicogenomics Database:54587, Ensembl:ENSG00000162576, GenAtlas:MXRA8, GeneCard:MXRA8, HGNC:HGNC:7542, ModBase:Q9BRK3, NCBI Gene:54587, RefSeq DNA:NT_004350, RefSeq Protein:NP_115724, RefSeq RNA:NM_032348, UniProtKB:Q9BRK3 No chr1 1288071 1297183 1352689 1363541 +PA31344 91663 HGNC:7544 ENSG00000179820 myeloid associated differentiation marker MYADM myeloid-associated differentiation marker Yes No Comparative Toxicogenomics Database:91663, Ensembl:ENSG00000179820, GenAtlas:MYADM, GeneCard:MYADM, HGNC:HGNC:7544, HumanCyc Gene:HS11417, ModBase:Q96S97, NCBI Gene:91663, OMIM:609959, RefSeq DNA:NT_011109, RefSeq Protein:NP_001018654, RefSeq Protein:NP_001018655, RefSeq Protein:NP_001018656, RefSeq Protein:NP_001018657, RefSeq Protein:NP_612382, RefSeq RNA:NM_001020818, RefSeq RNA:NM_001020819, RefSeq RNA:NM_001020820, RefSeq RNA:NM_001020821, RefSeq RNA:NM_138373, UniProtKB:Q96S97 No chr19 54369611 54379689 53865584 53876435 +PA134906649 151325 HGNC:31019 ENSG00000239649 myeloid-associated differentiation marker-like (pseudogene) MYADML Yes No Ensembl:ENSG00000239649, GeneCard:MYADML, HGNC:HGNC:31019, NCBI Gene:151325, RefSeq DNA:NT_022184, RefSeq RNA:NR_003143 No chr2 33951128 33953284 33726061 33728217 +PA164723246 255275 HGNC:34548 ENSG00000185105 myeloid associated differentiation marker like 2 MYADML2 myeloid-associated differentiation marker-like 2 LOC255275 Yes No Ensembl:ENSG00000185105, GeneCard:MYADML2, HGNC:HGNC:34548, NCBI Gene:255275, RefSeq DNA:NT_010663, RefSeq Protein:NP_001138585, RefSeq RNA:NM_001145113, UniProtKB:A6NDP7 No chr17 79897521 79905109 81939645 81947233 +PA31345 4602 HGNC:7545 ENSG00000118513 MYB proto-oncogene, transcription factor MYB v-myb avian myeloblastosis viral oncogene homolog, v-myb myeloblastosis viral oncogene homolog (avian) c-myb Yes No Comparative Toxicogenomics Database:4602, Ensembl:ENSG00000118513, GenAtlas:MYB, GeneCard:MYB, HGNC:HGNC:7545, HumanCyc Gene:HS04228, ModBase:P10242, NCBI Gene:4602, OMIM:189990, RefSeq DNA:NG_012330, RefSeq DNA:NT_025741, RefSeq Protein:NP_001123644, RefSeq Protein:NP_001123645, RefSeq Protein:NP_001155128, RefSeq Protein:NP_001155129, RefSeq Protein:NP_001155130, RefSeq Protein:NP_001155131, RefSeq Protein:NP_001155132, RefSeq Protein:NP_005366, RefSeq RNA:NM_001130172, RefSeq RNA:NM_001130173, RefSeq RNA:NM_001161656, RefSeq RNA:NM_001161657, RefSeq RNA:NM_001161658, RefSeq RNA:NM_001161659, RefSeq RNA:NM_001161660, RefSeq RNA:NM_005375, UCSC Genome Browser:NM_005375, UniProtKB:P10242, UniProtKB:Q14025, UniProtKB:Q708E9 No chr6 135502453 135540311 135180981 135219173 +PA31346 10514 HGNC:7546 ENSG00000132382 MYB binding protein 1a MYBBP1A MYB binding protein (P160) 1a, p53-activated protein-2 FLJ37886, P160, PAP2, Pol5 Yes No Comparative Toxicogenomics Database:10514, Ensembl:ENSG00000132382, GenAtlas:MYBBP1A, GeneCard:MYBBP1A, HGNC:HGNC:7546, HumanCyc Gene:HS05627, ModBase:Q9BQG0, NCBI Gene:10514, OMIM:604885, RefSeq DNA:NT_010718, RefSeq Protein:NP_001099008, RefSeq Protein:NP_055335, RefSeq RNA:NM_001105538, RefSeq RNA:NM_014520, UCSC Genome Browser:NM_014520, UniProtKB:Q9BQG0 No chr17 4442191 4458921 4538896 4555386 +PA31347 4603 HGNC:7547 ENSG00000185697 MYB proto-oncogene like 1 MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1, v-myb myeloblastosis viral oncogene homolog (avian)-like 1 A-myb, AMYB Yes No Comparative Toxicogenomics Database:4603, Ensembl:ENSG00000185697, GenAtlas:MYBL1, GeneCard:MYBL1, HGNC:HGNC:7547, ModBase:P10243, NCBI Gene:4603, OMIM:159405, RefSeq DNA:NT_008183, RefSeq Protein:NP_001073885, RefSeq Protein:NP_001138227, RefSeq RNA:NM_001080416, RefSeq RNA:NM_001144755, UniProtKB:P10243, UniProtKB:Q495F9 No chr8 67474410 67525484 66562175 66613290 +PA31348 4605 HGNC:7548 ENSG00000101057 MYB proto-oncogene like 2 MYBL2 v-myb avian myeloblastosis viral oncogene homolog-like 2, v-myb myeloblastosis viral oncogene homolog (avian)-like 2 B-MYB, BMYB Yes No Comparative Toxicogenomics Database:4605, Ensembl:ENSG00000101057, GenAtlas:MYBL2, GeneCard:MYBL2, HGNC:HGNC:7548, HumanCyc Gene:HS02186, ModBase:P10244, NCBI Gene:4605, OMIM:601415, RefSeq DNA:NT_011362, RefSeq Protein:NP_002457, RefSeq RNA:NM_002466, UCSC Genome Browser:NM_002466, UniProtKB:P10244 No chr20 42295659 42345136 43667019 43716496 +PA31349 4604 HGNC:7549 ENSG00000196091 myosin binding protein C1 MYBPC1 """myosin binding protein C, slow type"", ""slow skeletal-type muscle myosin-binding-protein C""" ssMyBP-C Yes No Comparative Toxicogenomics Database:4604, Ensembl:ENSG00000196091, GenAtlas:MYBPC1, GeneCard:MYBPC1, HGNC:HGNC:7549, ModBase:Q00872, NCBI Gene:4604, OMIM:160794, RefSeq DNA:NT_029419, RefSeq Protein:NP_002456, RefSeq Protein:NP_996555, RefSeq Protein:NP_996556, RefSeq Protein:NP_996557, RefSeq RNA:NM_002465, RefSeq RNA:NM_206819, RefSeq RNA:NM_206820, RefSeq RNA:NM_206821, UCSC Genome Browser:NM_002465, UniProtKB:Q00872, UniProtKB:Q569K7, UniProtKB:Q86TA8 No chr12 101988709 102079658 101594849 101695841 +PA31350 4606 HGNC:7550 ENSG00000086967 myosin binding protein C2 MYBPC2 """fast skeletal-type muscle myosin-binding-protein C"", ""fast-type muscle myosin-binding-protein C"", ""myosin binding protein C, fast type""" MGC163408, MYBPC, MYBPCF, fsMyBP-C Yes No Comparative Toxicogenomics Database:4606, Ensembl:ENSG00000086967, GenAtlas:MYBPC2, GeneCard:MYBPC2, HGNC:HGNC:7550, HumanCyc Gene:HS01545, ModBase:Q14324, NCBI Gene:4606, OMIM:160793, RefSeq DNA:NT_011109, RefSeq Protein:NP_004524, RefSeq RNA:NM_004533, UCSC Genome Browser:NM_004533, UniProtKB:Q14324 No chr19 50936160 50969583 50432903 50466326 +PA31351 4607 HGNC:7551 ENSG00000134571 myosin binding protein C3 MYBPC3 myosin binding protein C, cardiac CMH4, FHC, MYBP-C, cMyBP-C Yes No Comparative Toxicogenomics Database:4607, Ensembl:ENSG00000134571, GenAtlas:MYBPC3, GeneCard:MYBPC3, HGNC:HGNC:7551, HumanCyc Gene:HS05887, ModBase:Q14896, NCBI Gene:4607, OMIM:115197, OMIM:115200, OMIM:600958, RefSeq DNA:NG_007667, RefSeq DNA:NT_009237, RefSeq Protein:NP_000247, RefSeq RNA:NM_000256, UCSC Genome Browser:NM_000256, UniProtKB:A5PL00, UniProtKB:A5YM48, UniProtKB:Q14896 No chr11 47352957 47374253 47331406 47352702 +PA31352 4608 HGNC:7552 ENSG00000133055 myosin binding protein H MYBPH Yes No Comparative Toxicogenomics Database:4608, Ensembl:ENSG00000133055, GenAtlas:MYBPH, GeneCard:MYBPH, HGNC:HGNC:7552, HumanCyc Gene:HS05724, ModBase:Q13203, NCBI Gene:4608, OMIM:160795, RefSeq DNA:NT_004487, RefSeq Protein:NP_004988, RefSeq RNA:NM_004997, UCSC Genome Browser:NM_004997, UniProtKB:Q13203 No chr1 203136939 203144969 203167811 203175814 +PA147357579 343263 HGNC:30434 ENSG00000221986 myosin binding protein H like MYBPHL myosin binding protein H-like Yes No Ensembl:ENSG00000221986, GeneCard:MYBPHL, HGNC:HGNC:30434, NCBI Gene:343263, RefSeq DNA:NT_032977, RefSeq Protein:NP_001010985, RefSeq RNA:NM_001010985, UniProtKB:A2RUH7 No chr1 109834987 109849663 109292365 109309394 +PA31353 4609 HGNC:7553 ENSG00000136997 MYC proto-oncogene, bHLH transcription factor MYC v-myc avian myelocytomatosis viral oncogene homolog, v-myc myelocytomatosis viral oncogene homolog (avian) MYCC, bHLHe39, c-Myc Yes Yes Comparative Toxicogenomics Database:4609, Ensembl:ENSG00000136997, GenAtlas:MYC, GeneCard:MYC, HGNC:HGNC:7553, HumanCyc Gene:HS06259, ModBase:P01106, NCBI Gene:4609, OMIM:113970, OMIM:190080, RefSeq DNA:NG_007161, RefSeq DNA:NT_008046, RefSeq Protein:NP_002458, RefSeq RNA:NM_002467, UCSC Genome Browser:NM_002467, UniProtKB:P01106 No chr8 128748315 128753680 127736069 127741434 +PA31354 26292 HGNC:7554 ENSG00000214114 MYC binding protein MYCBP associate of myc-1, c-myc binding protein AMY-1 Yes No Comparative Toxicogenomics Database:26292, Ensembl:ENSG00000214114, GenAtlas:MYCBP, GeneCard:MYCBP, HGNC:HGNC:7554, HumanCyc Gene:HS05506, NCBI Gene:26292, OMIM:606535, RefSeq DNA:NT_032977, RefSeq Protein:NP_036465, RefSeq RNA:NM_012333, RefSeq RNA:NR_037632, UCSC Genome Browser:NM_012333, UniProtKB:Q99417 No chr1 39328162 39339050 38862490 38873378 +PA134871126 23077 HGNC:23386 ENSG00000005810 MYC binding protein 2 MYCBP2 """MYC binding protein 2, E3 ubiquitin protein ligase"", ""PAM/Highwire/RPM-1 protein 1""" FLJ10106, KIAA0916, PAM, PHR1 Yes No Comparative Toxicogenomics Database:23077, Ensembl:ENSG00000005810, GeneCard:MYCBP2, HGNC:HGNC:23386, HumanCyc Gene:HS12006, ModBase:O75592, NCBI Gene:23077, OMIM:610392, RefSeq DNA:NT_024524, RefSeq Protein:NP_055872, RefSeq RNA:NM_015057, UniProtKB:O75592 No chr13 77618792 77901177 77044657 77327066 +PA134886355 84073 HGNC:19677 ENSG00000136449 MYCBP associated protein MYCBPAP AMAP-1, DKFZp434N1415 Yes No Ensembl:ENSG00000136449, GeneCard:MYCBPAP, HGNC:HGNC:19677, HumanCyc Gene:HS13629, ModBase:Q8TBZ2, NCBI Gene:84073, OMIM:609835, RefSeq DNA:NT_010783, RefSeq Protein:NP_115509, RefSeq RNA:NM_032133, UniProtKB:B4DZQ1, UniProtKB:Q8TBZ2 No chr17 48585745 48608863 50507778 50531502 +PA31355 4610 HGNC:7555 ENSG00000116990 MYCL proto-oncogene, bHLH transcription factor MYCL """l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"", ""v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog"", ""v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)""" LMYC, MYCL1, bHLHe38 Yes No Comparative Toxicogenomics Database:4610, Ensembl:ENSG00000116990, GenAtlas:MYCL1, GeneCard:MYCL1, HGNC:HGNC:7555, HumanCyc Gene:HS04078, ModBase:P12524, NCBI Gene:4610, OMIM:164850, RefSeq DNA:NT_032977, RefSeq Protein:NP_001028253, RefSeq Protein:NP_001028254, RefSeq Protein:NP_005367, RefSeq RNA:NM_001033081, RefSeq RNA:NM_001033082, RefSeq RNA:NM_005376, UCSC Genome Browser:NM_005376, UniProtKB:P12524 No chr1 40361096 40367687 39895424 39902015 +PA31359 4613 HGNC:7559 ENSG00000134323 MYCN proto-oncogene, bHLH transcription factor MYCN """v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog"", ""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)""" MYCNOT, N-myc, NMYC, bHLHe37 Yes No Comparative Toxicogenomics Database:4613, Ensembl:ENSG00000134323, GenAtlas:MYCN, GeneCard:MYCN, HGNC:HGNC:7559, HumanCyc Gene:HS05856, ModBase:P04198, NCBI Gene:4613, OMIM:164280, OMIM:164840, OMIM:602585, RefSeq DNA:NG_007457, RefSeq DNA:NT_005334, RefSeq Protein:NP_005369, RefSeq RNA:NM_005378, UCSC Genome Browser:NM_005378, UniProtKB:P04198, UniProtKB:Q53XS5 No chr2 16080683 16087129 15940438 15947007 +PA134938338 10408 HGNC:16911 ENSG00000233718 MYCN opposite strand/antisense RNA MYCNOS DNA binding transcriptional activator, MYCN antisense RNA 1 MYCN-AS1, NCYM Yes No Ensembl:ENSG00000233718, GeneCard:MYCNOS, HGNC:HGNC:16911, NCBI Gene:10408, OMIM:605374, RefSeq DNA:NT_005334, RefSeq RNA:NR_026766 No chr2 16076387 16081845 15936265 15941723 +PA134908917 80177 HGNC:23172 ENSG00000120279 MYC target 1 MYCT1 myc target 1 FLJ21269, MTLC Yes No Ensembl:ENSG00000120279, GeneCard:MYCT1, HGNC:HGNC:23172, HumanCyc Gene:HS12984, NCBI Gene:80177, RefSeq DNA:NT_025741, RefSeq Protein:NP_079383, RefSeq RNA:NM_025107, UniProtKB:Q8N699 No chr6 153019030 153045717 152697895 152747171 +PA31361 4615 HGNC:7562 ENSG00000172936 MYD88 innate immune signal transduction adaptor MYD88 """MYD88, innate immune signal transduction adaptor"", ""TLR adaptor MYD88"", ""myeloid differentiation primary response 88""" Yes Yes Comparative Toxicogenomics Database:4615, Ensembl:ENSG00000172936, GenAtlas:MYD88, GeneCard:MYD88, HGNC:HGNC:7562, HumanCyc Gene:HS10593, ModBase:Q99836, NCBI Gene:4615, OMIM:602170, OMIM:612260, RefSeq DNA:NG_016964, RefSeq DNA:NT_022517, RefSeq Protein:NP_001166037, RefSeq Protein:NP_001166038, RefSeq Protein:NP_001166039, RefSeq Protein:NP_001166040, RefSeq Protein:NP_002459, RefSeq RNA:NM_001172566, RefSeq RNA:NM_001172567, RefSeq RNA:NM_001172568, RefSeq RNA:NM_001172569, RefSeq RNA:NM_002468, UCSC Genome Browser:NM_002468, UniProtKB:B4DQ60, UniProtKB:B4DQ72, UniProtKB:Q99836 No chr3 38179969 38184513 38138478 38143022 +PA29827 56005 HGNC:16948 ENSG00000074842 myeloid derived growth factor MYDGF chromosome 19 open reading frame 10 C19orf10, IL-25, IL-27, IL25, IL27, IL27w, R33729_1, SF20 Yes No Ensembl:ENSG00000074842, GeneCard:C19orf10, HGNC:HGNC:16948, HumanCyc Gene:HS12229, NCBI Gene:56005, OMIM:606746, RefSeq DNA:NT_011255, RefSeq Protein:NP_061980, RefSeq RNA:NM_019107, UCSC Genome Browser:NM_019107, UniProtKB:Q969H8 No chr19 4657557 4670415 4657545 4670403 +PA134877084 50804 HGNC:17940 ENSG00000104177 myelin expression factor 2 MYEF2 FLJ11213, HsT18564, KIAA1341, MEF-2 Yes No Comparative Toxicogenomics Database:50804, Ensembl:ENSG00000104177, GeneCard:MYEF2, HGNC:HGNC:17940, HumanCyc Gene:HS02551, ModBase:Q9P2K5, NCBI Gene:50804, RefSeq DNA:NT_010194, RefSeq Protein:NP_057216, RefSeq RNA:NM_016132, UniProtKB:Q9P2K5 No chr15 48431629 48470714 48134632 48178517 +PA31362 26579 HGNC:7563 ENSG00000172927 myeloma overexpressed MYEOV oncogene in multiple myeloma OCIM Yes No Ensembl:ENSG00000172927, GenAtlas:MYEOV, GeneCard:MYEOV, HGNC:HGNC:7563, HumanCyc Gene:HS10590, NCBI Gene:26579, OMIM:605625, RefSeq DNA:NT_167190, RefSeq Protein:NP_620123, RefSeq RNA:NM_138768, UCSC Genome Browser:NM_138768, UniProtKB:Q96EZ4 No chr11 69061613 69064754 69294138 69297287 +PA31363 4617 HGNC:7565 ENSG00000111049 myogenic factor 5 MYF5 bHLHc2 Yes No Comparative Toxicogenomics Database:4617, Ensembl:ENSG00000111049, GenAtlas:MYF5, GeneCard:MYF5, HGNC:HGNC:7565, HumanCyc Gene:HS03363, ModBase:P13349, NCBI Gene:4617, OMIM:159990, RefSeq DNA:NT_029419, RefSeq Protein:NP_005584, RefSeq RNA:NM_005593, UCSC Genome Browser:NM_005593, UniProtKB:P13349 No chr12 81110708 81113447 80716929 80719668 +PA31364 4618 HGNC:7566 ENSG00000111046 myogenic factor 6 MYF6 herculin, muscle-specific regulatory factor 4, myogenic factor 6 (herculin) MRF4, bHLHc4 Yes No Comparative Toxicogenomics Database:4618, Ensembl:ENSG00000111046, GenAtlas:MYF6, GeneCard:MYF6, HGNC:HGNC:7566, HumanCyc Gene:HS03362, ModBase:P23409, NCBI Gene:4618, OMIM:159991, OMIM:160150, OMIM:310200, RefSeq DNA:NG_021392, RefSeq DNA:NT_029419, RefSeq Protein:NP_002460, RefSeq RNA:NM_002469, UCSC Genome Browser:NM_002469, UniProtKB:P23409 No chr12 81101408 81103257 80707629 80709478 +PA166351978 60314 HGNC:17590 MYG1 exonuclease MYG1 melanocyte proliferating gene 1, melanocyte related gene C12orf10, Gamm1, MYG Yes No HGNC:HGNC:17590, NCBI Gene:60314 No 0 0 0 0 +PA31365 4619 HGNC:7567 ENSG00000109061 myosin heavy chain 1 MYH1 """myosin heavy chain IIx/d"", ""myosin, heavy chain 1, skeletal muscle, adult""" MGC133384, MYHSA1, MYHa, MyHC-2X/D Yes No Comparative Toxicogenomics Database:4619, Ensembl:ENSG00000109061, GenAtlas:MYH1, GeneCard:MYH1, HGNC:HGNC:7567, HumanCyc Gene:HS03189, ModBase:P12882, NCBI Gene:4619, OMIM:160730, RefSeq DNA:NT_010718, RefSeq Protein:NP_005954, RefSeq RNA:NM_005963, UCSC Genome Browser:NM_005963, UniProtKB:P12882 No chr17 10395624 10421859 10492307 10518719 +PA31366 4628 HGNC:7568 ENSG00000133026 myosin heavy chain 10 MYH10 myosin, heavy chain 10, non-muscle NMMHCB Yes No Comparative Toxicogenomics Database:4628, Ensembl:ENSG00000133026, GenAtlas:MYH10, GeneCard:MYH10, HGNC:HGNC:7568, HumanCyc Gene:HS05720, ModBase:P35580, NCBI Gene:4628, OMIM:160776, RefSeq DNA:NT_010718, RefSeq Protein:NP_005955, RefSeq RNA:NM_005964, UniProtKB:P35580, UniProtKB:Q6PK16, UniProtKB:Q9BWG0 No chr17 8377523 8534094 8474205 8631369 +PA31367 4629 HGNC:7569 ENSG00000133392 myosin heavy chain 11 MYH11 myosin, heavy chain 11, smooth muscle SMHC, SMMHC, SMMS-1 Yes No Comparative Toxicogenomics Database:4629, Ensembl:ENSG00000133392, GenAtlas:MYH11, GeneCard:MYH11, HGNC:HGNC:7569, HumanCyc Gene:HS05759, ModBase:P35749, NCBI Gene:4629, OMIM:132900, OMIM:160745, RefSeq DNA:NG_009299, RefSeq DNA:NT_010393, RefSeq Protein:NP_001035202, RefSeq Protein:NP_001035203, RefSeq Protein:NP_002465, RefSeq Protein:NP_074035, RefSeq RNA:NM_001040113, RefSeq RNA:NM_001040114, RefSeq RNA:NM_002474, RefSeq RNA:NM_022844, UCSC Genome Browser:NM_002474, UniProtKB:D2JYH7, UniProtKB:P35749, UniProtKB:Q3MIV8, UniProtKB:Q3MNF0, UniProtKB:Q3MNF1 No chr16 15796992 15950887 15703135 15857032 +PA31368 8735 HGNC:7571 ENSG00000006788 myosin heavy chain 13 MYH13 """extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"", ""myosin, heavy chain 13, skeletal muscle""" MyHC-eo Yes No Ensembl:ENSG00000006788, GenAtlas:MYH13, GeneCard:MYH13, HGNC:HGNC:7571, HumanCyc Gene:HS00197, ModBase:Q9UKX3, NCBI Gene:8735, OMIM:603487, RefSeq DNA:NT_010718, RefSeq Protein:NP_003793, RefSeq RNA:NM_003802, UCSC Genome Browser:NM_003802, UniProtKB:Q9UKX3 No chr17 10201401 10276322 10300866 10373005 +PA134935217 79784 HGNC:23212 ENSG00000105357 myosin heavy chain 14 MYH14 myosin, heavy chain 14, non-muscle DFNA4, FLJ13881, KIAA2034, MHC16, MYH17 Yes No Comparative Toxicogenomics Database:79784, Ensembl:ENSG00000105357, GenAtlas:MYH14, GeneCard:MYH14, HGNC:HGNC:23212, HumanCyc Gene:HS15746, ModBase:Q9H882, NCBI Gene:79784, OMIM:600652, OMIM:608568, RefSeq DNA:NG_011645, RefSeq DNA:NT_011109, RefSeq Protein:NP_001070654, RefSeq Protein:NP_001139281, RefSeq Protein:NP_079005, RefSeq RNA:NM_001077186, RefSeq RNA:NM_001145809, RefSeq RNA:NM_024729, UniProtKB:A1L2Z2, UniProtKB:B0I1S2, UniProtKB:B3KWH4, UniProtKB:Q7Z406 No chr19 50706885 50813801 50188186 50310544 +PA134958635 22989 HGNC:31073 ENSG00000144821 myosin heavy chain 15 MYH15 myosin, heavy chain 15 KIAA1000 Yes No Ensembl:ENSG00000144821, GeneCard:MYH15, HGNC:HGNC:31073, NCBI Gene:22989, OMIM:609929, RefSeq DNA:NT_005612, RefSeq Protein:NP_055796, RefSeq RNA:NM_014981, UniProtKB:Q9Y2K3 No chr3 108099216 108248169 108380369 108549462 +PA134925505 84176 HGNC:31038 ENSG00000002079 myosin heavy chain 16 MYH16 """myosin, heavy chain 16 pseudogene"", ""sarcomeric myosin""" MHC20, MYH16P, MYH5 Yes No Ensembl:ENSG00000002079, GeneCard:MYH16, HGNC:HGNC:31038, NCBI Gene:84176, OMIM:608580, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_002147 No chr7 98870924 98895595 99273301 99297972 +PA31369 4620 HGNC:7572 ENSG00000125414 myosin heavy chain 2 MYH2 myosin, heavy chain 2, skeletal muscle, adult IBM3, MYH2A, MYHSA2, MYHas8, MyHC-2A, MyHC-IIa Yes No Comparative Toxicogenomics Database:4620, Ensembl:ENSG00000125414, GenAtlas:MYH2, GeneCard:MYH2, HGNC:HGNC:7572, HumanCyc Gene:HS04883, ModBase:Q9UKX2, NCBI Gene:4620, OMIM:160740, OMIM:605637, RefSeq DNA:NG_013014, RefSeq DNA:NT_010718, RefSeq Protein:NP_001093582, RefSeq Protein:NP_060004, RefSeq RNA:NM_001100112, RefSeq RNA:NM_017534, UCSC Genome Browser:NM_017534, UniProtKB:Q567P6, UniProtKB:Q9UKX2 No chr17 10424465 10453017 10521148 10549700 +PA31370 4621 HGNC:7573 ENSG00000109063 myosin heavy chain 3 MYH3 """muscle embryonic myosin heavy chain 3"", ""myosin, heavy chain 3, skeletal muscle, embryonic"", ""myosin, skeletal, heavy chain, embryonic 1""" HEMHC, MYHC-EMB, MYHSE1, SMHCE Yes No Comparative Toxicogenomics Database:4621, Ensembl:ENSG00000109063, GenAtlas:MYH3, GeneCard:MYH3, HGNC:HGNC:7573, HumanCyc Gene:HS03191, ModBase:P11055, NCBI Gene:4621, OMIM:160720, OMIM:193700, OMIM:601680, RefSeq DNA:NG_011537, RefSeq DNA:NT_010718, RefSeq Protein:NP_002461, RefSeq RNA:NM_002470, UCSC Genome Browser:NM_002470, UniProtKB:P11055 No chr17 10531843 10560626 10628526 10679657 +PA31371 4622 HGNC:7574 ENSG00000264424 myosin heavy chain 4 MYH4 myosin, heavy chain 4, skeletal muscle MYH2B, MyHC-2B, MyHC-IIb Yes No Comparative Toxicogenomics Database:4622, Ensembl:ENSG00000264424, GenAtlas:MYH4, GeneCard:MYH4, HGNC:HGNC:7574, HumanCyc Gene:HS06795, ModBase:Q9Y623, NCBI Gene:4622, OMIM:160742, RefSeq DNA:NT_010718, RefSeq Protein:NP_060003, RefSeq RNA:NM_017533, UCSC Genome Browser:NM_017533, UniProtKB:Q9Y623 No chr17 10346607 10372876 10443058 10469559 +PA31373 4624 HGNC:7576 ENSG00000197616 myosin heavy chain 6 MYH6 """cardiomyopathy, hypertrophic 1"", ""myosin, heavy chain 6, cardiac muscle, alpha""" Yes No Comparative Toxicogenomics Database:4624, Ensembl:ENSG00000197616, GenAtlas:MYH6, GeneCard:MYH6, HGNC:HGNC:7576, NCBI Gene:4624, OMIM:160710, OMIM:192600, OMIM:613251, OMIM:613252, RefSeq DNA:NG_023444, RefSeq DNA:NT_026437, RefSeq Protein:NP_002462, RefSeq RNA:NM_002471, UCSC Genome Browser:NM_002471, UniProtKB:P13533 No chr14 23849942 23878836 23381990 23408277 +PA31374 4625 HGNC:7577 ENSG00000092054 myosin heavy chain 7 MYH7 myosin, heavy chain 7, cardiac muscle, beta CMD1S, CMH1, MPD1 Yes No Comparative Toxicogenomics Database:4625, Ensembl:ENSG00000092054, GenAtlas:MYH7, GeneCard:MYH7, HGNC:HGNC:7577, HumanCyc Gene:HS01754, ModBase:Q9UMM8, NCBI Gene:4625, OMIM:160500, OMIM:160760, OMIM:181430, OMIM:192600, OMIM:608358, OMIM:613426, RefSeq DNA:NG_007884, RefSeq DNA:NT_026437, RefSeq Protein:NP_000248, RefSeq RNA:NM_000257, UCSC Genome Browser:NM_000257, UniProtKB:P12883 No chr14 23881947 23904870 23412738 23435686 +PA31375 57644 HGNC:15906 ENSG00000078814 myosin heavy chain 7B MYH7B myosin, heavy chain 7B, cardiac muscle, beta KIAA1512, MHC14, MYH14, dJ756N5.1, lncMYH7b Yes No Ensembl:ENSG00000078814, GenAtlas:MYH7B, GeneCard:MYH7B, HGNC:HGNC:15906, NCBI Gene:57644, OMIM:609928, RefSeq DNA:NG_016984, RefSeq DNA:NT_011362, RefSeq Protein:NP_065935, RefSeq RNA:NM_020884, UCSC Genome Browser:NM_033424, UniProtKB:A7E2Y1 No chr20 33543704 33590240 34955835 35002437 +PA31376 4626 HGNC:7578 ENSG00000133020 myosin heavy chain 8 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal MyHC-peri, MyHC-pn Yes No Comparative Toxicogenomics Database:4626, Ensembl:ENSG00000133020, GenAtlas:MYH8, GeneCard:MYH8, HGNC:HGNC:7578, HumanCyc Gene:HS05719, ModBase:P13535, NCBI Gene:4626, OMIM:158300, OMIM:160741, OMIM:608837, RefSeq DNA:NG_013015, RefSeq DNA:NT_010718, RefSeq Protein:NP_002463, RefSeq RNA:NM_002472, UCSC Genome Browser:NM_002472, UniProtKB:P13535 No chr17 10293642 10325267 10390325 10421950 +PA31377 4627 HGNC:7579 ENSG00000100345 myosin heavy chain 9 MYH9 """myosin, heavy chain 9, non-muscle"", ""nonmuscle myosin heavy chain II-A""" DFNA17, EPSTS, FTNS, MHA, NMHC-II-A, NMMHCA Yes No Comparative Toxicogenomics Database:4627, Ensembl:ENSG00000100345, GenAtlas:MYH9, GeneCard:MYH9, HGNC:HGNC:7579, HumanCyc Gene:HS02051, ModBase:P35579, NCBI Gene:4627, OMIM:153640, OMIM:153650, OMIM:155100, OMIM:160775, OMIM:600208, OMIM:603622, OMIM:605249, RefSeq DNA:NG_011884, RefSeq DNA:NT_011520, RefSeq Protein:NP_002464, RefSeq RNA:NM_002473, UCSC Genome Browser:NM_002473, UniProtKB:P35579, UniProtKB:Q60FE2 No chr22 36677323 36784107 36281277 36388067 +PA31379 4632 HGNC:7582 ENSG00000168530 myosin light chain 1 MYL1 """Myosin light chain 1/3, skeletal muscle isoform"", ""myosin, light chain 1, alkali; skeletal, fast""" MLC-1, MLC1, MLC1/3, MLC1F, MLC3F Yes No Comparative Toxicogenomics Database:4632, Ensembl:ENSG00000168530, GenAtlas:MYL1, GeneCard:MYL1, HGNC:HGNC:7582, HumanCyc Gene:HS09781, ModBase:P05976, ModBase:P06741, NCBI Gene:4632, OMIM:160780, RefSeq DNA:NT_005403, RefSeq Protein:NP_524144, RefSeq Protein:NP_524146, RefSeq RNA:NM_079420, RefSeq RNA:NM_079422, UCSC Genome Browser:NM_079420, UniProtKB:P05976 No chr2 211154868 211179895 210290144 210315171 +PA164723254 93408 HGNC:29825 ENSG00000106436 myosin light chain 10 MYL10 myosin, light chain 10, regulatory MGC3479, MYLC2PL, PLRLC Yes No Ensembl:ENSG00000106436, GeneCard:MYL10, HGNC:HGNC:29825, HumanCyc Gene:HS02908, NCBI Gene:93408, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_612412, RefSeq RNA:NM_138403, UniProtKB:Q9BUA6 No chr7 101256605 101272576 101613325 101629296 +PA164723287 29895 HGNC:29824 ENSG00000180209 myosin light chain 11 MYL11 """myosin light chain, phosphorylatable, fast skeletal muscle"", ""myosin regulatory light chain 2"", ""myosin, light chain 11, regulatory""" HUMMLC2B, MRLC2, MYL11, MYLPF Yes No Ensembl:ENSG00000180209, GeneCard:MYLPF, HGNC:HGNC:29824, HumanCyc Gene:HS11469, NCBI Gene:29895, RefSeq DNA:NT_010393, RefSeq Protein:NP_037424, RefSeq RNA:NM_013292, UniProtKB:Q96A32 No chr16 30386123 30389310 30370934 30377991 +PA164723273 10627 HGNC:16701 ENSG00000101608 myosin light chain 12A MYL12A """myosin regulatory light chain 3"", ""myosin, light chain 12A, regulatory, non-sarcomeric""" MLCB, MRCL3, MRLC3, MYL2B Yes No Comparative Toxicogenomics Database:10627, Ensembl:ENSG00000101608, GeneCard:MYL12A, HGNC:HGNC:16701, HumanCyc Gene:HS02294, NCBI Gene:10627, RefSeq DNA:NT_010859, RefSeq Protein:NP_006462, RefSeq RNA:NM_006471, UCSC Genome Browser:NM_006471, UniProtKB:P19105, UniProtKB:Q53X45 No chr18 3247472 3256234 3247482 3256237 +PA164723274 103910 HGNC:29827 ENSG00000118680 myosin light chain 12B MYL12B """myosin regulatory light chain 2"", ""myosin, light chain 12B, regulatory""" MRLC2 Yes No Ensembl:ENSG00000118680, GeneCard:MYL12B, HGNC:HGNC:29827, HumanCyc Gene:HS04241, NCBI Gene:103910, OMIM:609211, RefSeq DNA:NT_010859, RefSeq Protein:NP_001138416, RefSeq Protein:NP_001138417, RefSeq Protein:NP_001138418, RefSeq Protein:NP_291024, RefSeq RNA:NM_001144944, RefSeq RNA:NM_001144945, RefSeq RNA:NM_001144946, RefSeq RNA:NM_033546, UniProtKB:O14950 No chr18 3262111 3278282 3262113 3278284 +PA31380 4633 HGNC:7583 ENSG00000111245 myosin light chain 2 MYL2 """cardiac ventricular myosin light chain 2"", ""myosin, light chain 2, regulatory, cardiac, slow""" CMH10 Yes No Comparative Toxicogenomics Database:4633, Ensembl:ENSG00000111245, GenAtlas:MYL2, GeneCard:MYL2, HGNC:HGNC:7583, HumanCyc Gene:HS03386, ModBase:P10916, NCBI Gene:4633, OMIM:160781, OMIM:608758, RefSeq DNA:NG_007554, RefSeq DNA:NT_009775, RefSeq Protein:NP_000423, RefSeq RNA:NM_000432, UCSC Genome Browser:NM_000432, UniProtKB:P10916, UniProtKB:Q6IB42 No chr12 111348623 111358404 110910819 110920600 +PA31381 4634 HGNC:7584 ENSG00000160808 myosin light chain 3 MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow CMH8, MLC1SB, MLC1V, VLC1 Yes No Comparative Toxicogenomics Database:4634, Ensembl:ENSG00000160808, GenAtlas:MYL3, GeneCard:MYL3, HGNC:HGNC:7584, HumanCyc Gene:HS08538, ModBase:P08590, NCBI Gene:4634, OMIM:160790, OMIM:608751, RefSeq DNA:NG_007555, RefSeq DNA:NT_022517, RefSeq Protein:NP_000249, RefSeq RNA:NM_000258, UCSC Genome Browser:NM_000258, UniProtKB:P08590 No chr3 46899357 46904973 46857867 46863483 +PA31382 4635 HGNC:7585 ENSG00000198336 myosin light chain 4 MYL4 """atrial myosin light chain 1"", ""myosin, atrial/fetal muscle, light chain"", ""myosin, light chain 4, alkali; atrial, embryonic""" ALC1, AMLC, GT1, PRO1957 Yes No Comparative Toxicogenomics Database:4635, Ensembl:ENSG00000198336, GenAtlas:MYL4, GeneCard:MYL4, HGNC:HGNC:7585, ModBase:P12829, NCBI Gene:4635, OMIM:160770, RefSeq DNA:NT_010783, RefSeq Protein:NP_001002841, RefSeq Protein:NP_002467, RefSeq RNA:NM_001002841, RefSeq RNA:NM_002476, UCSC Genome Browser:NM_002476, UniProtKB:P12829 No chr17 45266728 45301045 47209017 47227650 +PA31383 4636 HGNC:7586 ENSG00000215375 myosin light chain 5 MYL5 myosin, light chain 5, regulatory Yes No Comparative Toxicogenomics Database:4636, Ensembl:ENSG00000215375, GenAtlas:MYL5, GeneCard:MYL5, HGNC:HGNC:7586, ModBase:Q02045, NCBI Gene:4636, OMIM:160782, RefSeq DNA:NT_037622, RefSeq Protein:NP_002468, RefSeq RNA:NM_002477, UCSC Genome Browser:NM_002477, UniProtKB:Q02045 No chr4 669717 675822 674199 682033 +PA31384 4637 HGNC:7587 ENSG00000092841 myosin light chain 6 MYL6 myosin, light chain 6, alkali, smooth muscle and non-muscle ESMLC, MLC1SM, MLC3NM Yes No Comparative Toxicogenomics Database:4637, Ensembl:ENSG00000092841, GenAtlas:MYL6, GeneCard:MYL6, HGNC:HGNC:7587, ModBase:P60660, NCBI Gene:4637, OMIM:609931, RefSeq DNA:NT_029419, RefSeq Protein:NP_066299, RefSeq Protein:NP_524147, RefSeq RNA:NM_021019, RefSeq RNA:NM_079423, UCSC Genome Browser:NM_021019, UniProtKB:P60660 No chr12 56552045 56555366 56158261 56161582 +PA144596407 140465 HGNC:29823 ENSG00000196465 myosin light chain 6B MYL6B """myosin light chain 1 slow a"", ""myosin, light chain 6B, alkali, smooth muscle and non-muscle""" MLC1SA Yes No Ensembl:ENSG00000196465, GeneCard:MYL6B, HGNC:HGNC:29823, HumanCyc Gene:HS01779, ModBase:P14649, NCBI Gene:140465, OMIM:609930, RefSeq DNA:NT_029419, RefSeq Protein:NP_001186558, RefSeq Protein:NP_002466, RefSeq RNA:NM_001199629, RefSeq RNA:NM_002475, UniProtKB:P14649 No chr12 56546040 56551771 56152420 56157987 +PA31385 54043 HGNC:7588 ENSG00000226543 myosin, light chain 6 pseudogene 1 MYL6P1 Yes No Ensembl:ENSG00000226543, GenAtlas:MYL6P, GeneCard:MYL6P1, HGNC:HGNC:7588, NCBI Gene:54043, RefSeq DNA:NG_000917, RefSeq DNA:NT_011515 No chr21 45275604 45276268 43855723 43856387 +PA134939476 58498 HGNC:21719 ENSG00000106631 myosin light chain 7 MYL7 myosin, light chain 7, regulatory MYL2A, MYLC2A Yes No Comparative Toxicogenomics Database:58498, Ensembl:ENSG00000106631, GeneCard:MYL7, HGNC:HGNC:21719, HumanCyc Gene:HS02934, ModBase:Q01449, NCBI Gene:58498, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_067046, RefSeq RNA:NM_021223, UniProtKB:Q01449 No chr7 44178463 44180974 44138864 44141392 +PA31387 10398 HGNC:15754 ENSG00000101335 myosin light chain 9 MYL9 """myosin regulatory light chain 1"", ""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin, light chain 9, regulatory""" LC20, MLC2, MRLC1, MYRL2 Yes No Comparative Toxicogenomics Database:10398, Ensembl:ENSG00000101335, GenAtlas:MYL9, GeneCard:MYL9, HGNC:HGNC:15754, HumanCyc Gene:HS02245, ModBase:P24844, NCBI Gene:10398, OMIM:609905, RefSeq DNA:NT_011362, RefSeq Protein:NP_006088, RefSeq Protein:NP_852667, RefSeq RNA:NM_006097, RefSeq RNA:NM_181526, UCSC Genome Browser:NM_006097, UniProtKB:P24844, UniProtKB:Q9BUF9 No chr20 35169887 35178226 36541484 36549823 +PA134942677 29116 HGNC:21155 ENSG00000007944 myosin regulatory light chain interacting protein MYLIP E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor IDOL, MIR Yes Yes Comparative Toxicogenomics Database:29116, Ensembl:ENSG00000007944, GeneCard:MYLIP, HGNC:HGNC:21155, HumanCyc Gene:HS00224, ModBase:Q8WY64, NCBI Gene:29116, OMIM:610082, RefSeq DNA:NT_007592, RefSeq Protein:NP_037394, RefSeq RNA:NM_013262, UniProtKB:Q8WY64 No chr6 16129277 16148479 16129086 16151015 +PA31388 4638 HGNC:7590 ENSG00000065534 myosin light chain kinase MYLK kinase related protein, smooth muscle myosin light chain kinase KRP, MLCK, MLCK1, MLCK108, MLCK210, MYLK-L, MYLK1, Telokin, smMLCK Yes No Comparative Toxicogenomics Database:4638, Ensembl:ENSG00000065534, GenAtlas:MYLK, GeneCard:MYLK, HGNC:HGNC:7590, HumanCyc Gene:HS00845, ModBase:Q5MYA0, NCBI Gene:4638, OMIM:600922, RefSeq DNA:NT_005612, RefSeq Protein:NP_444253, RefSeq Protein:NP_444254, RefSeq Protein:NP_444255, RefSeq Protein:NP_444256, RefSeq Protein:NP_444259, RefSeq Protein:NP_444260, RefSeq RNA:NM_053025, RefSeq RNA:NM_053026, RefSeq RNA:NM_053027, RefSeq RNA:NM_053028, RefSeq RNA:NM_053031, RefSeq RNA:NM_053032, UCSC Genome Browser:NM_005965, UniProtKB:Q15746, UniProtKB:Q6P2N0, UniProtKB:Q9UBY6 No chr3 123331143 123603149 123612296 123884302 +PA31389 85366 HGNC:16243 ENSG00000101306 myosin light chain kinase 2 MYLK2 skeletal muscle myosin light chain kinase KMLC, MLCK2, skMLCK Yes No Comparative Toxicogenomics Database:85366, Ensembl:ENSG00000101306, GenAtlas:MYLK2, GeneCard:MYLK2, HGNC:HGNC:16243, HumanCyc Gene:HS02236, ModBase:Q9H1R3, NCBI Gene:85366, OMIM:192600, OMIM:606566, RefSeq DNA:NG_012847, RefSeq DNA:NT_011362, RefSeq Protein:NP_149109, RefSeq RNA:NM_033118, UCSC Genome Browser:NM_033118, UniProtKB:Q9H1R3 No chr20 30407115 30422500 31819375 31834697 +PA162396375 91807 HGNC:29826 ENSG00000140795 myosin light chain kinase 3 MYLK3 MLC kinase MLCK, caMLCK Yes No Ensembl:ENSG00000140795, GeneCard:MYLK3, HGNC:HGNC:29826, NCBI Gene:91807, OMIM:612147, RefSeq DNA:NT_010498, RefSeq Protein:NP_872299, RefSeq RNA:NM_182493, UniProtKB:Q32MK0 No chr16 46736194 46797201 46702282 46763246 +PA162396406 340156 HGNC:27972 ENSG00000145949 myosin light chain kinase family member 4 MYLK4 """caMLCK like"", ""myosin light chain kinase family, member 4""" SgK085 Yes No Ensembl:ENSG00000145949, GeneCard:MYLK4, HGNC:HGNC:27972, ModBase:Q86YV6, NCBI Gene:340156, RefSeq DNA:NT_007592, RefSeq Protein:NP_001012418, RefSeq RNA:NM_001012418, UniProtKB:Q86YV6 No chr6 2663863 2765615 2663629 2770330 +PA31390 9430 HGNC:7591 ENSG00000228868 myosin light chain kinase pseudogene 1 MYLKP1 Yes No Ensembl:ENSG00000228868, GenAtlas:MYLKP, GeneCard:MYLKP1, HGNC:HGNC:7591, NCBI Gene:9430, RefSeq DNA:NG_009879, RefSeq DNA:NT_022459 No chr3 75377699 75388223 75328548 75339072 +PA165586306 389827 HGNC:33778 ENSG00000187616 myomaker, myoblast fusion factor MYMK transmembrane protein 226, transmembrane protein 8C MYOMAKER, TMEM226, TMEM8C Yes No Ensembl:ENSG00000187616, GeneCard:TMEM8C, HGNC:HGNC:33778, NCBI Gene:389827, RefSeq DNA:NT_035014, RefSeq Protein:NP_001073952, RefSeq RNA:NM_001080483, UniProtKB:A6NI61 No chr9 136379708 136390068 133514586 133524946 +PA166181577 101929726 HGNC:52391 ENSG00000262179 myomixer, myoblast fusion factor MYMX microprotein inducer of fusion, myomerger MINION Yes No Ensembl:ENSG00000262179, HGNC:HGNC:52391, NCBI Gene:101929726 No 0 0 0 0 +PA31393 55892 HGNC:14955 ENSG00000085274 myoneurin MYNN SBBIZ1, ZBTB31, ZNF902 Yes No Ensembl:ENSG00000085274, GenAtlas:MYNN, GeneCard:MYNN, HGNC:HGNC:14955, HumanCyc Gene:HS01489, ModBase:Q86Z11, NCBI Gene:55892, OMIM:606042, RefSeq DNA:NT_005612, RefSeq Protein:NP_001172047, RefSeq Protein:NP_001172048, RefSeq Protein:NP_061127, RefSeq RNA:NM_001185118, RefSeq RNA:NM_001185119, RefSeq RNA:NM_018657, RefSeq RNA:NR_033702, RefSeq RNA:NR_033703, UCSC Genome Browser:NM_018657, UniProtKB:B2R6C9, UniProtKB:Q9NPC7 No chr3 169490619 169507504 169772247 169789716 +PA31394 4651 HGNC:7593 ENSG00000145555 myosin X MYO10 Unconventional myosin-X KIAA0799, MyoX Yes No Comparative Toxicogenomics Database:4651, Ensembl:ENSG00000145555, GenAtlas:MYO10, GeneCard:MYO10, HGNC:HGNC:7593, NCBI Gene:4651, OMIM:601481, RefSeq DNA:NT_006576, RefSeq Protein:NP_036466, RefSeq RNA:NM_012334, UCSC Genome Browser:NM_012334, UniProtKB:Q9HD67 No chr5 16662016 16936385 16661907 16936276 +PA31395 51168 HGNC:7594 ENSG00000091536 myosin XVA MYO15A DFNB3, MYO15 Yes No Comparative Toxicogenomics Database:51168, Ensembl:ENSG00000091536, GenAtlas:MYO15A, GeneCard:MYO15A, HGNC:HGNC:7594, HumanCyc Gene:HS01738, ModBase:Q9UKN7, NCBI Gene:51168, OMIM:600316, OMIM:602666, RefSeq DNA:NG_011634, RefSeq DNA:NT_010718, RefSeq Protein:NP_057323, RefSeq RNA:NM_016239, UCSC Genome Browser:NM_016239, UniProtKB:Q9UKN7 No chr17 18012020 18083116 18108706 18180227 +PA31396 80022 HGNC:14083 ENSG00000266714 myosin XVB MYO15B myosin XVB pseudogene MYO15BP Yes No Ensembl:ENSG00000266714, GenAtlas:MYO15B, GeneCard:MYO15B, HGNC:HGNC:14083, NCBI Gene:80022, RefSeq DNA:NT_010783, RefSeq RNA:NR_003587 No chr17 73584139 73622929 75587545 75626850 +PA162396437 23026 HGNC:29822 ENSG00000041515 myosin XVI MYO16 """neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107""" KIAA0865, MYR8, Myo16b, NYAP3, PPP1R107 Yes No Ensembl:ENSG00000041515, GeneCard:MYO16, HGNC:HGNC:29822, ModBase:Q9Y6X6, NCBI Gene:23026, RefSeq DNA:NT_009952, RefSeq Protein:NP_001185879, RefSeq Protein:NP_055826, RefSeq RNA:NM_001198950, RefSeq RNA:NM_015011, UniProtKB:Q9Y6X6 No chr13 109248500 109860355 108495729 109208007 +PA134978348 399687 HGNC:31104 ENSG00000196535 myosin XVIIIA MYO18A KIAA0216, MysPDZ, TIAF1 Yes No Comparative Toxicogenomics Database:399687, Ensembl:ENSG00000196535, GeneCard:MYO18A, HGNC:HGNC:31104, ModBase:Q92614, NCBI Gene:399687, OMIM:610067, RefSeq DNA:NT_010799, RefSeq Protein:NP_510880, RefSeq Protein:NP_976063, RefSeq RNA:NM_078471, RefSeq RNA:NM_203318, UniProtKB:Q92614, UniProtKB:Q9NYE8 No chr17 27400528 27507432 29073510 29180389 +PA38300 84700 HGNC:18150 ENSG00000133454 myosin XVIIIB MYO18B BK125H2.1 Yes No Comparative Toxicogenomics Database:84700, Ensembl:ENSG00000133454, GenAtlas:MYO18B, GeneCard:MYO18B, HGNC:HGNC:18150, HumanCyc Gene:HS05764, ModBase:Q8IUG5, NCBI Gene:84700, OMIM:607295, RefSeq DNA:NT_011520, RefSeq Protein:NP_115997, RefSeq RNA:NM_032608, UCSC Genome Browser:NM_032608, UniProtKB:Q8IUG5 No chr22 26138117 26453345 25742133 26063847 +PA162396512 80179 HGNC:26234 ENSG00000278259 myosin XIX MYO19 FLJ22865, MYOHD1 Yes No Ensembl:ENSG00000278259, GeneCard:MYO19, HGNC:HGNC:26234, HumanCyc Gene:HS06802, NCBI Gene:80179, RefSeq DNA:NT_010783, RefSeq Protein:NP_001028752, RefSeq Protein:NP_001157207, RefSeq Protein:NP_079385, RefSeq RNA:NM_001033580, RefSeq RNA:NM_001163735, RefSeq RNA:NM_025109, UniProtKB:B4E218, UniProtKB:Q96H55 No chr17 34851599 34891305 36495636 36535457 +PA31397 4640 HGNC:7595 ENSG00000166866 myosin IA MYO1A Brush border myosin I, Unconventional myosin-Ia BBMI, DFNA48, MYHL Yes No Comparative Toxicogenomics Database:4640, Ensembl:ENSG00000166866, GenAtlas:MYO1A, GeneCard:MYO1A, HGNC:HGNC:7595, HumanCyc Gene:HS09467, ModBase:Q9UBC5, NCBI Gene:4640, OMIM:601478, OMIM:607841, RefSeq DNA:NG_012104, RefSeq DNA:NT_029419, RefSeq Protein:NP_005370, RefSeq RNA:NM_005379, UCSC Genome Browser:NM_005379, UniProtKB:Q9UBC5 No chr12 57422301 57444549 57028517 57050765 +PA31398 4430 HGNC:7596 ENSG00000128641 myosin IB MYO1B myr1 Yes No Comparative Toxicogenomics Database:4430, Ensembl:ENSG00000128641, GenAtlas:MYO1B, GeneCard:MYO1B, HGNC:HGNC:7596, HumanCyc Gene:HS05209, ModBase:O43795, NCBI Gene:4430, OMIM:606537, RefSeq DNA:NT_005403, RefSeq Protein:NP_001123630, RefSeq Protein:NP_001155291, RefSeq Protein:NP_036355, RefSeq RNA:NM_001130158, RefSeq RNA:NM_001161819, RefSeq RNA:NM_012223, UCSC Genome Browser:NM_012223, UniProtKB:B0I1S9, UniProtKB:O43795 No chr2 192110107 192290115 191245381 191425389 +PA31399 4641 HGNC:7597 ENSG00000197879 myosin IC MYO1C Unconventional myosin-Ic MyoIC, NMI, myr2 Yes No Comparative Toxicogenomics Database:4641, Ensembl:ENSG00000197879, GenAtlas:MYO1C, GeneCard:MYO1C, HGNC:HGNC:7597, NCBI Gene:4641, OMIM:606538, RefSeq DNA:NT_010718, RefSeq Protein:NP_001074248, RefSeq Protein:NP_001074419, RefSeq Protein:NP_203693, RefSeq RNA:NM_001080779, RefSeq RNA:NM_001080950, RefSeq RNA:NM_033375, UCSC Genome Browser:NM_004998, UCSC Genome Browser:NM_033375, UniProtKB:O00159 No chr17 1367480 1396001 1464186 1492707 +PA31400 4642 HGNC:7598 ENSG00000176658 myosin ID MYO1D protein phosphatase 1, regulatory subunit 108 KIAA0727, PPP1R108, myr4 Yes No Comparative Toxicogenomics Database:4642, Ensembl:ENSG00000176658, GenAtlas:MYO1D, GeneCard:MYO1D, HGNC:HGNC:7598, HumanCyc Gene:HS11067, ModBase:O94832, NCBI Gene:4642, OMIM:606539, RefSeq DNA:NT_010799, RefSeq Protein:NP_056009, RefSeq RNA:NM_015194, UniProtKB:O94832 No chr17 30819628 31203902 32492522 32877173 +PA31401 4643 HGNC:7599 ENSG00000157483 myosin IE MYO1E myosin-IC HuncM-IC, MGC104638, MYO1C Yes No Comparative Toxicogenomics Database:4643, Ensembl:ENSG00000157483, GenAtlas:MYO1E, GeneCard:MYO1E, HGNC:HGNC:7599, HumanCyc Gene:HS08215, ModBase:Q12965, NCBI Gene:4643, OMIM:601479, RefSeq DNA:NT_010194, RefSeq Protein:NP_004989, RefSeq RNA:NM_004998, UCSC Genome Browser:NM_004998, UniProtKB:Q12965, UniProtKB:Q4KMR3 No chr15 59428168 59665071 59135969 59372872 +PA31402 4542 HGNC:7600 ENSG00000142347 myosin IF MYO1F Unconventional myosin-If Yes No Ensembl:ENSG00000142347, GenAtlas:MYO1F, GeneCard:MYO1F, HGNC:HGNC:7600, HumanCyc Gene:HS06920, ModBase:O00160, NCBI Gene:4542, OMIM:601480, RefSeq DNA:NT_077812, RefSeq Protein:NP_036467, RefSeq RNA:NM_012335, UCSC Genome Browser:NM_012335, UniProtKB:O00160 No chr19 8585674 8642331 8520790 8577447 +PA31403 64005 HGNC:13880 ENSG00000136286 myosin IG MYO1G minor histocompatibility antigen HA-2 HA-2 Yes No Comparative Toxicogenomics Database:64005, Ensembl:ENSG00000136286, GenAtlas:MYO1G, GeneCard:MYO1G, HGNC:HGNC:13880, HumanCyc Gene:HS06146, ModBase:B0I1T2, NCBI Gene:64005, OMIM:613445, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_149043, RefSeq RNA:NM_033054 No chr7 45002260 45018704 44962661 44979105 +PA31404 283446 HGNC:13879 ENSG00000174527 myosin IH MYO1H Unconventional myosin-Ih FLJ37587 Yes Yes Ensembl:ENSG00000174527, GenAtlas:MYO1H, GeneCard:MYO1H, HGNC:HGNC:13879, HumanCyc Gene:HS16359, ModBase:Q8N1T3, NCBI Gene:283446, RefSeq DNA:NT_009775, RefSeq Protein:NP_001094891, RefSeq RNA:NM_001101421 No chr12 109826439 109886176 109388277 109448371 +PA31405 53904 HGNC:7601 ENSG00000095777 myosin IIIA MYO3A DFNB30 Yes No Comparative Toxicogenomics Database:53904, Ensembl:ENSG00000095777, GenAtlas:MYO3A, GeneCard:MYO3A, HGNC:HGNC:7601, HumanCyc Gene:HS01834, ModBase:Q8NEV4, NCBI Gene:53904, OMIM:606808, OMIM:607101, RefSeq DNA:NG_011635, RefSeq DNA:NT_008705, RefSeq Protein:NP_059129, RefSeq RNA:NM_017433, UCSC Genome Browser:NM_017433, UniProtKB:Q8NEV4 No chr10 26223002 26501465 25934073 26212536 +PA31406 140469 HGNC:15576 ENSG00000071909 myosin IIIB MYO3B Yes No Ensembl:ENSG00000071909, GenAtlas:MYO3B, GeneCard:MYO3B, HGNC:HGNC:15576, HumanCyc Gene:HS01045, ModBase:Q96N94, NCBI Gene:140469, OMIM:610040, RefSeq DNA:NT_005403, RefSeq Protein:NP_001077084, RefSeq Protein:NP_001165113, RefSeq Protein:NP_620482, RefSeq RNA:NM_001083615, RefSeq RNA:NM_001171642, RefSeq RNA:NM_138995, UCSC Genome Browser:NM_138995, UniProtKB:B7ZM71, UniProtKB:B8ZZR2, UniProtKB:Q8WXR4 No chr2 171034655 171511674 170178145 170655325 +PA31407 4644 HGNC:7602 ENSG00000197535 myosin VA MYO5A """Unconventional myosin-Va"", ""myosin V"", ""myosin VA (heavy chain 12, myoxin)"", ""myosin heavy chain 12"", ""myosin, heavy polypeptide kinase"", ""myoxin""" GS1, MYH12, MYO5, MYR12 Yes No Comparative Toxicogenomics Database:4644, Ensembl:ENSG00000197535, GenAtlas:MYO5A, GeneCard:MYO5A, HGNC:HGNC:7602, ModBase:Q9Y4I1, NCBI Gene:4644, OMIM:160777, OMIM:214450, RefSeq DNA:NG_009887, RefSeq DNA:NT_010194, RefSeq Protein:NP_000250, RefSeq Protein:NP_001135967, RefSeq RNA:NM_000259, RefSeq RNA:NM_001142495, UCSC Genome Browser:NM_000259, UniProtKB:A8CDT9, UniProtKB:Q9UES4, UniProtKB:Q9Y4I1 No chr15 52599480 52821247 52307283 52529050 +PA31408 4645 HGNC:7603 ENSG00000167306 myosin VB MYO5B KIAA1119 Yes No Comparative Toxicogenomics Database:4645, Ensembl:ENSG00000167306, GenAtlas:MYO5B, GeneCard:MYO5B, HGNC:HGNC:7603, HumanCyc Gene:HS09537, ModBase:Q9ULV0, NCBI Gene:4645, OMIM:251850, OMIM:606540, RefSeq DNA:NG_012925, RefSeq DNA:NT_010966, RefSeq Protein:NP_001073936, RefSeq RNA:NM_001080467, UniProtKB:Q7Z7A5, UniProtKB:Q9H6Y6, UniProtKB:Q9ULV0 No chr18 47349156 47721542 49822786 50195081 +PA31409 55930 HGNC:7604 ENSG00000128833 myosin VC MYO5C myosin 5C MGC74969 Yes No Ensembl:ENSG00000128833, GenAtlas:MYO5C, GeneCard:MYO5C, HGNC:HGNC:7604, HumanCyc Gene:HS05228, ModBase:Q9NQX4, NCBI Gene:55930, OMIM:610022, RefSeq DNA:NT_010194, RefSeq Protein:NP_061198, RefSeq RNA:NM_018728, UCSC Genome Browser:NM_018728, UniProtKB:Q9NQX4 No chr15 52484515 52587995 52192318 52295798 +PA31410 4646 HGNC:7605 ENSG00000196586 myosin VI MYO6 DFNA22, DFNB37, KIAA0389 Yes No Comparative Toxicogenomics Database:4646, Ensembl:ENSG00000196586, GenAtlas:MYO6, GeneCard:MYO6, HGNC:HGNC:7605, NCBI Gene:4646, OMIM:600970, OMIM:606346, OMIM:607821, RefSeq DNA:NG_009934, RefSeq DNA:NT_007299, RefSeq Protein:NP_004990, RefSeq RNA:NM_004999, UCSC Genome Browser:NM_004999, UniProtKB:Q9UM54 No chr6 76458893 76629254 75749176 75919537 +PA31411 4647 HGNC:7606 ENSG00000137474 myosin VIIA MYO7A DFNA11, DFNB2, NSRD2, USH1B Yes No Comparative Toxicogenomics Database:4647, Ensembl:ENSG00000137474, GenAtlas:MYO7A, GeneCard:MYO7A, HGNC:HGNC:7606, HumanCyc Gene:HS06344, ModBase:Q13402, NCBI Gene:4647, OMIM:276900, OMIM:276903, OMIM:600060, OMIM:601317, RefSeq DNA:NG_009086, RefSeq DNA:NT_167190, RefSeq Protein:NP_000251, RefSeq Protein:NP_001120651, RefSeq Protein:NP_001120652, RefSeq RNA:NM_000260, RefSeq RNA:NM_001127179, RefSeq RNA:NM_001127180, UCSC Genome Browser:NM_000260, UniProtKB:B9A012, UniProtKB:Q13402 No chr11 76839302 76926286 77128192 77215241 +PA31412 4648 HGNC:7607 ENSG00000169994 myosin VIIB MYO7B Yes No Comparative Toxicogenomics Database:4648, Ensembl:ENSG00000169994, GenAtlas:MYO7B, GeneCard:MYO7B, HGNC:HGNC:7607, ModBase:Q6PIF6, NCBI Gene:4648, OMIM:606541, RefSeq DNA:NT_022135, RefSeq Protein:NP_001073996, RefSeq RNA:NM_001080527, UniProtKB:Q6PIF6 No chr2 128293378 128395303 127535689 127637728 +PA31413 4649 HGNC:7608 ENSG00000066933 myosin IXA MYO9A FLJ11061, FLJ13244, MGC71859 Yes No Comparative Toxicogenomics Database:4649, Ensembl:ENSG00000066933, GenAtlas:MYO9A, GeneCard:MYO9A, HGNC:HGNC:7608, HumanCyc Gene:HS00892, NCBI Gene:4649, OMIM:604875, RefSeq DNA:NT_010194, RefSeq Protein:NP_008832, RefSeq RNA:NM_006901, UCSC Genome Browser:NM_006901, UniProtKB:B2RTY4 No chr15 72114632 72410440 71822290 72118577 +PA31414 4650 HGNC:7609 ENSG00000099331 myosin IXB MYO9B CELIAC4 Yes No Comparative Toxicogenomics Database:4650, Ensembl:ENSG00000099331, GenAtlas:MYO9B, GeneCard:MYO9B, HGNC:HGNC:7609, HumanCyc Gene:HS01889, ModBase:Q13459, NCBI Gene:4650, OMIM:602129, OMIM:609753, RefSeq DNA:NG_013068, RefSeq DNA:NT_011295, RefSeq Protein:NP_001123537, RefSeq Protein:NP_004136, RefSeq RNA:NM_001130065, RefSeq RNA:NM_004145, UCSC Genome Browser:NM_004145, UniProtKB:B0I1T6, UniProtKB:Q4LE74, UniProtKB:Q8WVD2 No chr19 17186591 17324104 17075781 17213295 +PA31415 4653 HGNC:7610 ENSG00000034971 myocilin MYOC """juvenile-onset open-angle glaucoma 1"", ""myocilin, trabecular meshwork inducible glucocorticoid response"", ""trabecular meshwork inducible glucocorticoid response protein""" GLC1A, JOAG1, TIGR Yes No Comparative Toxicogenomics Database:4653, Ensembl:ENSG00000034971, GenAtlas:MYOC, GeneCard:MYOC, HGNC:HGNC:7610, HumanCyc Gene:HS00505, ModBase:Q99972, NCBI Gene:4653, OMIM:137750, OMIM:601652, RefSeq DNA:NG_008859, RefSeq DNA:NT_004487, RefSeq Protein:NP_000252, RefSeq RNA:NM_000261, UCSC Genome Browser:NM_000261, UniProtKB:Q99972 No chr1 171604557 171621773 171635417 171652633 +PA134946896 93649 HGNC:16067 ENSG00000141052 myocardin MYOCD MYCD Yes Yes Ensembl:ENSG00000141052, GeneCard:MYOCD, HGNC:HGNC:16067, HumanCyc Gene:HS06796, ModBase:Q8IZQ8, NCBI Gene:93649, OMIM:606127, RefSeq DNA:NG_012972, RefSeq DNA:NT_010718, RefSeq Protein:NP_001139784, RefSeq Protein:NP_001139785, RefSeq Protein:NP_705832, RefSeq RNA:NM_001146312, RefSeq RNA:NM_001146313, RefSeq RNA:NM_153604, UniProtKB:Q5UBU5, UniProtKB:Q6N065, UniProtKB:Q8IZQ8 No chr17 12569207 12672266 12665890 12768949 +PA166181578 110806290 HGNC:53429 ENSG00000283683 myocilin opposite strand MYOCOS Yes No Ensembl:ENSG00000283683, HGNC:HGNC:53429, NCBI Gene:110806290 No 0 0 0 0 +PA31416 4654 HGNC:7611 ENSG00000129152 myogenic differentiation 1 MYOD1 myoblast determination protein 1 MYF3, MYOD, PUM, bHLHc1 Yes No Comparative Toxicogenomics Database:4654, Ensembl:ENSG00000129152, GenAtlas:MYOD1, GeneCard:MYOD1, HGNC:HGNC:7611, HumanCyc Gene:HS05247, ModBase:P15172, NCBI Gene:4654, OMIM:159970, RefSeq DNA:NT_009237, RefSeq Protein:NP_002469, RefSeq RNA:NM_002478, UCSC Genome Browser:NM_002478, UniProtKB:P15172 No chr11 17741110 17743678 17719563 17722131 +PA164723288 26509 HGNC:3656 ENSG00000138119 myoferlin MYOF fer-1-like family member 3 FER1L3, KIAA1207 Yes No Ensembl:ENSG00000138119, GeneCard:MYOF, HGNC:HGNC:3656, HumanCyc Gene:HS06460, NCBI Gene:26509, OMIM:604603, RefSeq DNA:NT_030059, RefSeq Protein:NP_038479, RefSeq Protein:NP_579899, RefSeq RNA:NM_013451, RefSeq RNA:NM_133337, UniProtKB:Q9NZM1 No chr10 95066186 95242190 93306429 93482504 +PA31417 4656 HGNC:7612 ENSG00000122180 myogenin MYOG myogenic factor 4, myogenin (myogenic factor 4) MYF4, bHLHc3 Yes No Comparative Toxicogenomics Database:4656, Ensembl:ENSG00000122180, GenAtlas:MYOG, GeneCard:MYOG, HGNC:HGNC:7612, HumanCyc Gene:HS04552, ModBase:P15173, NCBI Gene:4656, OMIM:159980, RefSeq DNA:NT_004487, RefSeq Protein:NP_002470, RefSeq RNA:NM_002479, UCSC Genome Browser:NM_002479, UniProtKB:P15173 No chr1 203052257 203055166 203083129 203086038 +PA31418 8736 HGNC:7613 ENSG00000101605 myomesin 1 MYOM1 skelemin Yes No Comparative Toxicogenomics Database:8736, Ensembl:ENSG00000101605, GenAtlas:MYOM1, GeneCard:MYOM1, HGNC:HGNC:7613, HumanCyc Gene:HS02293, ModBase:P52179, NCBI Gene:8736, OMIM:603508, RefSeq DNA:NT_010859, RefSeq Protein:NP_003794, RefSeq Protein:NP_062830, RefSeq RNA:NM_003803, RefSeq RNA:NM_019856, UCSC Genome Browser:NM_003803, UniProtKB:P52179 No chr18 3066805 3220106 3066807 3220108 +PA31419 9172 HGNC:7614 ENSG00000036448 myomesin 2 MYOM2 Yes Yes Ensembl:ENSG00000036448, GenAtlas:MYOM2, GeneCard:MYOM2, HGNC:HGNC:7614, HumanCyc Gene:HS00515, ModBase:P54296, NCBI Gene:9172, OMIM:603509, RefSeq DNA:NT_023736, RefSeq Protein:NP_003961, RefSeq RNA:NM_003970, UCSC Genome Browser:NM_003970, UniProtKB:P54296 No chr8 1993082 2093380 2045043 2145456 +PA134899390 127294 HGNC:26679 ENSG00000142661 myomesin 3 MYOM3 FLJ35961 Yes No Ensembl:ENSG00000142661, GeneCard:MYOM3, HGNC:HGNC:26679, ModBase:Q8NA11, NCBI Gene:127294, RefSeq DNA:NT_004610, RefSeq Protein:NP_689585, RefSeq RNA:NM_152372, UniProtKB:Q5VTT5 No chr1 24382531 24438665 24056041 24112175 +PA134929853 57462 HGNC:19918 ENSG00000164976 myogenesis regulating glycosidase MYORG myogenesis regulating glycosidase (putative) KIAA1161, NET37 Yes No Comparative Toxicogenomics Database:57462, Ensembl:ENSG00000164976, GeneCard:KIAA1161, HGNC:HGNC:19918, ModBase:Q6NSJ0, NCBI Gene:57462, RefSeq DNA:NT_008413, RefSeq Protein:NP_065753, RefSeq RNA:NM_020702, UniProtKB:Q6NSJ0 No chr9 34368907 34376894 34366666 34376952 +PA37064 9499 HGNC:12399 ENSG00000120729 myotilin MYOT LGMD1, LGMD1A, TTID Yes No Comparative Toxicogenomics Database:9499, Ensembl:ENSG00000120729, GenAtlas:MYOT, GeneCard:MYOT, HGNC:HGNC:12399, HumanCyc Gene:HS04430, ModBase:Q9UBF9, NCBI Gene:9499, OMIM:159000, OMIM:182920, OMIM:604103, OMIM:609200, RefSeq DNA:NG_008894, RefSeq DNA:NT_034772, RefSeq Protein:NP_001129412, RefSeq Protein:NP_006781, RefSeq RNA:NM_001135940, RefSeq RNA:NM_006790, UCSC Genome Browser:NM_006790, UniProtKB:B4DT79, UniProtKB:Q9UBF9 No chr5 137203536 137223540 137867282 137887851 +PA31420 58529 HGNC:13752 ENSG00000177791 myozenin 1 MYOZ1 calsarcin-2 CS-2, FATZ, MYOZ Yes No Ensembl:ENSG00000177791, GenAtlas:MYOZ1, GeneCard:MYOZ1, HGNC:HGNC:13752, HumanCyc Gene:HS16926, ModBase:Q9NP98, NCBI Gene:58529, OMIM:605603, RefSeq DNA:NT_030059, RefSeq Protein:NP_067068, RefSeq RNA:NM_021245, UCSC Genome Browser:NM_021245, UniProtKB:Q9NP98 No chr10 75391370 75401515 73631612 73641757 +PA31421 51778 HGNC:1330 ENSG00000172399 myozenin 2 MYOZ2 calsarcin-1 C4orf5, CS-1, FATZ-2 Yes No Comparative Toxicogenomics Database:51778, Ensembl:ENSG00000172399, GenAtlas:MYOZ2, GeneCard:MYOZ2, HGNC:HGNC:1330, HumanCyc Gene:HS10511, ModBase:Q9NPC6, NCBI Gene:51778, OMIM:605602, RefSeq DNA:NT_016354, RefSeq Protein:NP_057683, RefSeq RNA:NM_016599, UCSC Genome Browser:NM_016599, UniProtKB:Q9NPC6 No chr4 120056939 120108944 119135784 119187789 +PA38577 91977 HGNC:18565 ENSG00000164591 myozenin 3 MYOZ3 FATZ related protein 3, calsarcin 3 CS-3, CS3, FATZ-3, FRP3 Yes No Ensembl:ENSG00000164591, GenAtlas:MYOZ3, GeneCard:MYOZ3, HGNC:HGNC:18565, HumanCyc Gene:HS15216, ModBase:Q8TDC0, NCBI Gene:91977, OMIM:610735, RefSeq DNA:NT_029289, RefSeq Protein:NP_001116325, RefSeq Protein:NP_588612, RefSeq RNA:NM_001122853, RefSeq RNA:NM_133371, UCSC Genome Browser:NM_133371, UniProtKB:Q8TDC0 No chr5 150040403 150058930 150660841 150679368 +PA134944534 84665 HGNC:23246 ENSG00000138347 myopalladin MYPN sarcomeric protein myopalladin, 145 kDa MYOP Yes No Comparative Toxicogenomics Database:84665, Ensembl:ENSG00000138347, GeneCard:MYPN, HGNC:HGNC:23246, HumanCyc Gene:HS13721, ModBase:Q86TC9, NCBI Gene:84665, OMIM:608517, RefSeq DNA:NT_030059, RefSeq Protein:NP_115967, RefSeq RNA:NM_032578, UniProtKB:Q86TC9 No chr10 69865874 69971774 68087908 68212017 +PA164723403 339344 HGNC:20178 ENSG00000176182 Myb related transcription factor, partner of profilin MYPOP """Myb-related transcription factor, partner of profilin"", ""p42 Myb-related transcription factor, partner of profilin""" P42pop Yes No Ensembl:ENSG00000176182, GeneCard:MYPOP, HGNC:HGNC:20178, NCBI Gene:339344, RefSeq DNA:NT_011109, RefSeq Protein:NP_001012661, RefSeq RNA:NM_001012643, UniProtKB:Q86VE0 No chr19 46393281 46405862 45890020 45902605 +PA25500 745 HGNC:1181 ENSG00000124920 myelin regulatory factor MYRF myelin gene regulatory factor C11orf9, MRF, Ndt80, pqn-47 Yes No Ensembl:ENSG00000124920, GenAtlas:C11orf9, GeneCard:C11orf9, HGNC:HGNC:1181, HumanCyc Gene:HS13151, NCBI Gene:745, OMIM:608329, RefSeq DNA:NT_167190, RefSeq Protein:NP_001120864, RefSeq Protein:NP_037411, RefSeq RNA:NM_001127392, RefSeq RNA:NM_013279, UCSC Genome Browser:NM_013279, UniProtKB:Q9Y2G1 No chr11 61520121 61555990 61752617 61788518 +PA142672299 196446 HGNC:26316 ENSG00000166268 myelin regulatory factor like MYRFL myelin regulatory factor-like C12orf15, C12orf28, FLJ25056, bcm1377 Yes No Ensembl:ENSG00000166268, GeneCard:C12orf28, HGNC:HGNC:26316, NCBI Gene:196446, RefSeq DNA:NT_029419, RefSeq Protein:XP_001716702, RefSeq Protein:XP_001718110, RefSeq Protein:XP_001718960, RefSeq RNA:XM_001716650, RefSeq RNA:XM_001718058, RefSeq RNA:XM_001718908 No chr12 70274016 70352502 69824518 69958726 +PA38800 25924 HGNC:19156 ENSG00000170011 myosin VIIA and Rab interacting protein MYRIP Slp homologue lacking C2 domains, rab effector MYRIP, synaptotagmin-like protein homologue lacking C2 domains-c DKFZp586F1018, MyRIP, SLAC2-C, SLAC2C, exophilin-8 Yes No Comparative Toxicogenomics Database:25924, Ensembl:ENSG00000170011, GenAtlas:MYRIP, GeneCard:MYRIP, HGNC:HGNC:19156, HumanCyc Gene:HS15835, ModBase:Q8NFW9, NCBI Gene:25924, OMIM:611790, RefSeq DNA:NT_022517, RefSeq Protein:NP_056275, RefSeq RNA:NM_015460, UCSC Genome Browser:NM_015460, UniProtKB:Q8NFW9 No chr3 39850405 40301812 39808914 40260321 +PA142671301 114803 HGNC:29401 ENSG00000162601 Myb like, SWIRM and MPN domains 1 MYSM1 Myb-like, SWIRM and MPN domains 1 KIAA1915 Yes No Ensembl:ENSG00000162601, GeneCard:MYSM1, HGNC:HGNC:29401, ModBase:Q5VVJ2, NCBI Gene:114803, OMIM:612176, RefSeq DNA:NT_032977, RefSeq Protein:NP_001078956, RefSeq RNA:NM_001085487, UniProtKB:Q5VVJ2 No chr1 59120411 59165747 58654739 58700091 +PA31426 4661 HGNC:7622 ENSG00000196132 myelin transcription factor 1 MYT1 neural zinc finger transcription factor 2 MTF1, MYTI, NZF2, PLPB1, ZC2H2C1, ZC2HC4A Yes No Comparative Toxicogenomics Database:4661, Ensembl:ENSG00000196132, GenAtlas:MYT1, GeneCard:MYT1, HGNC:HGNC:7622, ModBase:Q01538, NCBI Gene:4661, OMIM:600379, RefSeq DNA:NT_011333, RefSeq Protein:NP_004526, RefSeq RNA:NM_004535, UCSC Genome Browser:NM_004535, UniProtKB:Q01538 No chr20 62795827 62873606 64164474 64242253 +PA31427 23040 HGNC:7623 ENSG00000186487 myelin transcription factor 1 like MYT1L myelin transcription factor 1-like, neural zinc finger transcription factor 1 KIAA1106, NZF1, ZC2H2C2, ZC2HC4B Yes Yes Ensembl:ENSG00000186487, GenAtlas:MYT1L, GeneCard:MYT1L, HGNC:HGNC:7623, HumanCyc Gene:HS08764, ModBase:Q9UL68, NCBI Gene:23040, OMIM:613084, RefSeq DNA:NT_022221, RefSeq Protein:NP_055840, RefSeq RNA:NM_015025, UniProtKB:B2RP54, UniProtKB:Q49A74, UniProtKB:Q9UL68 No chr2 1792885 2335147 1789113 2331388 +PA166049098 100820829 HGNC:43444 ENSG00000263155 myocardial zonula adherens protein MYZAP myocardium-enriched zonula adherens protein GCOM1, Gup, Gup1, MYOZAP Yes No Ensembl:ENSG00000263155, HGNC:HGNC:43444, NCBI Gene:100820829 No chr15 57884102 57977562 57591904 57685364 +PA166048994 51237 HGNC:30125 ENSG00000170476 marginal zone B and B1 cell specific protein MZB1 marginal zone B and B1 cell-specific protein, mesenteric oestrogen-dependent adipose gene- 7, plasma cell-induced ER protein 1, proapoptotic caspase adaptor protein HSPC190, MEDA-7, MGC29506, PACAP, pERp1 Yes No Ensembl:ENSG00000170476, HGNC:HGNC:30125, NCBI Gene:51237 No chr5 138723257 138725605 139387568 139389916 +PA37683 7593 HGNC:13108 ENSG00000099326 myeloid zinc finger 1 MZF1 MZF-1, MZF1B, ZNF42, ZSCAN6, Zfp98 Yes No Comparative Toxicogenomics Database:7593, Ensembl:ENSG00000099326, GenAtlas:MZF1, GeneCard:MZF1, HGNC:HGNC:13108, HumanCyc Gene:HS01888, ModBase:P28698, NCBI Gene:7593, OMIM:194550, RefSeq DNA:NT_011109, RefSeq Protein:NP_003413, RefSeq Protein:NP_932172, RefSeq RNA:NM_003422, RefSeq RNA:NM_198055, UCSC Genome Browser:NM_003422, UniProtKB:P28698 No chr19 59073284 59085757 58561917 58573851 +PA165505227 440145 HGNC:33830 ENSG00000204899 mitotic spindle organizing protein 1 MZT1 mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1 C13orf37, FLJ21869, LOC440145, MGC150539, MOZART1, RP11-11C5.2 Yes No Ensembl:ENSG00000204899, GeneCard:MZT1, HGNC:HGNC:33830, NCBI Gene:440145, OMIM:613448, RefSeq DNA:NT_024524, RefSeq DNA:NT_024524.13, RefSeq Protein:NP_001065243, RefSeq RNA:NM_001071775, RefSeq RNA:NM_001071775.2, UniProtKB:Q08AG7 No chr13 73282495 73301938 72708357 72727800 +PA165696923 653784 HGNC:33187 ENSG00000173272 mitotic spindle organizing protein 2A MZT2A mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A FAM128A, MOZART2A Yes No Ensembl:ENSG00000173272, GeneCard:MZT2A, HGNC:HGNC:33187, NCBI Gene:653784, OMIM:613449, RefSeq DNA:NT_022135, RefSeq DNA:NT_022135.15, RefSeq Protein:NP_001078834, RefSeq RNA:NM_001085365, RefSeq RNA:NM_001085365.1, UniProtKB:Q6P582 No chr2 132227298 132250312 131469724 131492719 +PA165696943 80097 HGNC:25886 ENSG00000152082 mitotic spindle organizing protein 2B MZT2B mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B FAM128B, FLJ14346, MOZART2B Yes No Ensembl:ENSG00000152082, GeneCard:MZT2B, HGNC:HGNC:25886, ModBase:Q6NZ67, NCBI Gene:80097, OMIM:613450, RefSeq DNA:NT_022135, RefSeq DNA:NT_022135.15, RefSeq Protein:NP_079305, RefSeq RNA:NM_025029, RefSeq RNA:NM_025029.2, UniProtKB:Q6NZ67 No chr2 130939248 130962365 130181562 130204793 +PA162396561 9683 HGNC:29850 ENSG00000102921 NEDD4 binding protein 1 N4BP1 Yes No Ensembl:ENSG00000102921, GeneCard:N4BP1, HGNC:HGNC:29850, HumanCyc Gene:HS12501, NCBI Gene:9683, RefSeq DNA:NT_010498, RefSeq Protein:NP_694574, RefSeq RNA:NM_153029, UniProtKB:O75113 No chr16 48572637 48644125 48538726 48610214 +PA162396580 55728 HGNC:29851 ENSG00000078177 NEDD4 binding protein 2 N4BP2 BCL-3 binding protein B3BP Yes No Ensembl:ENSG00000078177, GeneCard:N4BP2, HGNC:HGNC:29851, HumanCyc Gene:HS01276, ModBase:Q86UW6, NCBI Gene:55728, RefSeq DNA:NT_016297, RefSeq Protein:NP_060647, RefSeq RNA:NM_018177, UniProtKB:Q86UW6 No chr4 40058524 40159872 40056223 40187039 +PA162396617 90634 HGNC:25037 ENSG00000139597 NEDD4 binding protein 2 like 1 N4BP2L1 NEDD4 binding protein 2-like 1, hypothetical gene CG018 CG018 Yes No Ensembl:ENSG00000139597, GeneCard:N4BP2L1, HGNC:HGNC:25037, HumanCyc Gene:HS13786, ModBase:Q5TBK1, NCBI Gene:90634, RefSeq DNA:NT_024524, RefSeq Protein:NP_001073159, RefSeq Protein:NP_438169, RefSeq RNA:NM_001079691, RefSeq RNA:NM_052818, UniProtKB:Q5TBK1, UniProtKB:Q9UQP6 No chr13 32974860 33002490 32400723 32429649 +PA162396632 10443 HGNC:26916 ENSG00000244754 NEDD4 binding protein 2 like 2 N4BP2L2 NEDD4 binding protein 2-like 2, phosphonoformate immuno-associated protein 5 CG005, PFAAP5 Yes No Ensembl:ENSG00000244754, GeneCard:N4BP2L2, HGNC:HGNC:26916, HumanCyc Gene:HS06636, ModBase:Q92802, NCBI Gene:10443, RefSeq DNA:NT_024524, RefSeq Protein:NP_055702, RefSeq Protein:NP_149102, RefSeq RNA:NM_014887, RefSeq RNA:NM_033111, UniProtKB:Q92802 No chr13 33006625 33116839 32432488 32542710 +PA166048990 23138 HGNC:29852 ENSG00000145911 NEDD4 binding protein 3 N4BP3 LZTS4 Yes No Ensembl:ENSG00000145911, HGNC:HGNC:29852, NCBI Gene:23138 No chr5 177540556 177553107 178113506 178127034 +PA162396656 29104 HGNC:16021 ENSG00000156239 N-6 adenine-specific DNA methyltransferase 1 N6AMT1 N-6 adenine-specific DNA methyltransferase 1 (putative) C21orf127, HEMK2, KMT9, MTQ2, N6AMT, PRED28, PrmC Yes Yes Comparative Toxicogenomics Database:29104, Ensembl:ENSG00000156239, GeneCard:N6AMT1, HGNC:HGNC:16021, HumanCyc Gene:HS08108, NCBI Gene:29104, RefSeq DNA:NT_011512, RefSeq Protein:NP_037372, RefSeq Protein:NP_877426, RefSeq RNA:NM_013240, RefSeq RNA:NM_182749, UniProtKB:Q9Y5N5 No chr21 30244513 30257695 28571095 28885373 +PA38648 8260 HGNC:18704 ENSG00000102030 N-alpha-acetyltransferase 10, NatA catalytic subunit NAA10 """N(alpha)-acetyltransferase 10, NatA catalytic subunit"", ""arrest defective protein 1""" ARD1, ARD1A, DXS707, TE2 Yes No Comparative Toxicogenomics Database:8260, Ensembl:ENSG00000102030, GenAtlas:ARD1A, GeneCard:ARD1A, GeneCard:NAA10, HGNC:HGNC:18704, HumanCyc Gene:HS02336, ModBase:P41227, NCBI Gene:8260, OMIM:300013, RefSeq DNA:NT_011726, RefSeq DNA:NT_167198, RefSeq Protein:NP_003482, RefSeq RNA:NM_003491, UCSC Genome Browser:NM_003491, UniProtKB:P41227 No chrX 153195280 153200607 153929827 153935154 +PA165664264 84779 HGNC:28125 ENSG00000156269 N-alpha-acetyltransferase 11, NatA catalytic subunit NAA11 N(alpha)-acetyltransferase 11, NatA catalytic subunit ARD1B, ARD2, hARD2 Yes No Ensembl:ENSG00000156269, GeneCard:NAA11, HGNC:HGNC:28125, HumanCyc Gene:HS08112, ModBase:Q9BSU3, NCBI Gene:84779, RefSeq DNA:NT_016354, RefSeq Protein:NP_116082, RefSeq RNA:NM_032693, UniProtKB:Q9BSU3 No chr4 80238272 80247171 79155237 79326058 +PA165664293 80155 HGNC:30782 ENSG00000164134 N-alpha-acetyltransferase 15, NatA auxiliary subunit NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit FLJ13340, NARG1, NATH, TBDN100 Yes No Comparative Toxicogenomics Database:80155, Ensembl:ENSG00000164134, GeneCard:NAA15, HGNC:HGNC:30782, HumanCyc Gene:HS09025, ModBase:Q9BXJ9, NCBI Gene:80155, OMIM:608000, RefSeq DNA:NT_016354, RefSeq Protein:NP_476516, RefSeq RNA:NM_057175, UniProtKB:Q58F05, UniProtKB:Q9BXJ9 No chr4 140222621 140311935 139301467 139390781 +PA165505266 79612 HGNC:26164 ENSG00000172766 N-alpha-acetyltransferase 16, NatA auxiliary subunit NAA16 N(alpha)-acetyltransferase 16, NatA auxiliary subunit FLJ22054, MGC40612, NARG1L, PRO2435 Yes No Comparative Toxicogenomics Database:79612, Ensembl:ENSG00000172766, GeneCard:NAA16, HGNC:HGNC:26164, HumanCyc Gene:HS16128, ModBase:Q6N069, NCBI Gene:79612, RefSeq DNA:NT_024524, RefSeq Protein:NP_001104268, RefSeq Protein:NP_060997, RefSeq Protein:NP_078837, RefSeq RNA:NM_001110798, RefSeq RNA:NM_018527, RefSeq RNA:NM_024561, UniProtKB:A4FU51, UniProtKB:Q6N069 No chr13 41885341 41951166 41311205 41377031 +PA31449 51126 HGNC:15908 ENSG00000173418 N-alpha-acetyltransferase 20, NatB catalytic subunit NAA20 """N(alpha)-acetyltransferase 20, NatB catalytic subunit"", ""N-acetyltransferase 3 homolog (S. cerevisiae)""" NAT3, NAT5, dJ1002M8.1 Yes No Comparative Toxicogenomics Database:51126, Ensembl:ENSG00000173418, GenAtlas:NAT5, GeneCard:NAA20, GeneCard:NAT5, HGNC:HGNC:15908, HumanCyc Gene:HS10662, ModBase:P61599, NCBI Gene:51126, OMIM:610833, RefSeq DNA:NT_011387, RefSeq Protein:NP_057184, RefSeq Protein:NP_852668, RefSeq Protein:NP_852669, RefSeq RNA:NM_016100, RefSeq RNA:NM_181527, RefSeq RNA:NM_181528, UCSC Genome Browser:NM_016100, UniProtKB:A6NHA3, UniProtKB:A8MZB2, UniProtKB:P61599 No chr20 19997934 20014273 20017290 20033629 +PA165513030 80018 HGNC:25783 ENSG00000111300 N-alpha-acetyltransferase 25, NatB auxiliary subunit NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit C12orf30, FLJ13089 Yes No Ensembl:ENSG00000111300, GeneCard:NAA25, HGNC:HGNC:25783, HumanCyc Gene:HS12737, ModBase:Q14CX7, NCBI Gene:80018, OMIM:612755, RefSeq DNA:NG_017071, RefSeq DNA:NT_009775, RefSeq Protein:NP_079229, RefSeq RNA:NM_024953, UniProtKB:Q14CX7 No chr12 112464493 112546826 112026689 112109022 +PA165479187 122830 HGNC:19844 ENSG00000139977 N-alpha-acetyltransferase 30, NatC catalytic subunit NAA30 N(alpha)-acetyltransferase 30, NatC catalytic subunit C14orf35, FLJ35355, MAK3, Mak3p, NAT12 Yes No Ensembl:ENSG00000139977, GeneCard:NAA30, HGNC:HGNC:19844, ModBase:Q147X3, NCBI Gene:122830, RefSeq DNA:NT_026437, RefSeq Protein:NP_001011713, RefSeq RNA:NM_001011713, UniProtKB:B3KS28, UniProtKB:Q147X3 No chr14 57857271 57879466 57390553 57412748 +PA165585932 60560 HGNC:24340 ENSG00000135040 N-alpha-acetyltransferase 35, NatC auxiliary subunit NAA35 N(alpha)-acetyltransferase 35, NatC auxiliary subunit FLJ21613, FLJ22643, MAK10, bA379P1.1 Yes No Comparative Toxicogenomics Database:60560, Ensembl:ENSG00000135040, GeneCard:NAA35, HGNC:HGNC:24340, HumanCyc Gene:HS13557, ModBase:Q5VZE5, NCBI Gene:60560, RefSeq DNA:NT_008470, RefSeq DNA:NT_023935, RefSeq Protein:NP_078911, RefSeq RNA:NM_024635, UniProtKB:Q5VZE5 No chr9 88556009 88638350 85941142 86026355 +PA142671503 84316 HGNC:28212 ENSG00000183011 N-alpha-acetyltransferase 38, NatC auxiliary subunit NAA38 """LSM domain containing 1"", ""N(alpha)-acetyltransferase 38, NatC auxiliary subunit""" LSMD1, MGC14151, PFAAP2 Yes No Comparative Toxicogenomics Database:84316, Ensembl:ENSG00000183011, GeneCard:LSMD1, HGNC:HGNC:28212, ModBase:Q9BRA0, NCBI Gene:84316, RefSeq DNA:NT_010718, RefSeq Protein:NP_115732, RefSeq RNA:NM_032356, UniProtKB:Q9BRA0 No chr17 7760003 7788608 7856685 7885465 +PA165543497 79829 HGNC:25845 ENSG00000110583 N-alpha-acetyltransferase 40, NatD catalytic subunit NAA40 """N(alpha)-acetyltransferase 40, NatD catalytic subunit"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)""" FLJ13848, NAT11 Yes No Ensembl:ENSG00000110583, GeneCard:NAA40, HGNC:HGNC:25845, HumanCyc Gene:HS03320, ModBase:Q86UY6, NCBI Gene:79829, RefSeq DNA:NT_033903, RefSeq DNA:NT_167190, RefSeq Protein:NP_079047, RefSeq RNA:NM_024771, UniProtKB:Q86UY6 No chr11 63706442 63724799 63938970 63957322 +PA165697846 80218 HGNC:29533 ENSG00000121579 N-alpha-acetyltransferase 50, NatE catalytic subunit NAA50 N(alpha)-acetyltransferase 50, NatE catalytic subunit FLJ13194, MAK3, NAT13, NAT5, San Yes No Comparative Toxicogenomics Database:80218, Ensembl:ENSG00000121579, GeneCard:NAA50, HGNC:HGNC:29533, HumanCyc Gene:HS04505, ModBase:Q9GZZ1, NCBI Gene:80218, OMIM:610834, RefSeq DNA:NT_005612, RefSeq Protein:NP_079422, RefSeq RNA:NM_025146, UniProtKB:Q9GZZ1 No chr3 113435307 113465120 113716460 113746299 +PA164723438 79903 HGNC:25875 ENSG00000122390 N-alpha-acetyltransferase 60, NatF catalytic subunit NAA60 """Histone acetyltransferase type B protein 4"", ""N(alpha)-acetyltransferase 60, NatF catalytic subunit"", ""N-acetyltransferase 15"", ""N-alpha-acetyltransferase F""" FLJ14154, HAT4, NAT15, NatF, hNaa60 Yes No Ensembl:ENSG00000122390, GeneCard:NAT15, HGNC:HGNC:25875, HumanCyc Gene:HS04567, ModBase:Q9H7X0, NCBI Gene:79903, RefSeq DNA:NT_010393, RefSeq Protein:NP_001077069, RefSeq Protein:NP_001077070, RefSeq Protein:NP_079121, RefSeq RNA:NM_001083600, RefSeq RNA:NM_001083601, RefSeq RNA:NM_024845, UniProtKB:Q9H7X0 No chr16 3493611 3536963 3443611 3486963 +PA134979782 24142 HGNC:30252 ENSG00000243477 N-alpha-acetyltransferase 80, NatH catalytic subunit NAA80 """N(alpha)-acetyltransferase 80, NatH catalytic subunit"", ""N-acetyltransferase 6 (GCN5-related)""" FUS2, NAT6 Yes No Ensembl:ENSG00000243477, GeneCard:NAT6, HGNC:HGNC:30252, ModBase:Q93015, NCBI Gene:24142, OMIM:607073, RefSeq DNA:NT_022517, RefSeq Protein:NP_001186945, RefSeq Protein:NP_001186947, RefSeq Protein:NP_036323, RefSeq RNA:NM_001200016, RefSeq RNA:NM_001200018, RefSeq RNA:NM_012191, UniProtKB:Q93015 No chr3 50333833 50336852 50296402 50299421 +PA162396672 27163 HGNC:736 ENSG00000138744 N-acylethanolamine acid amidase NAAA ASAHL Yes No Ensembl:ENSG00000138744, GeneCard:NAAA, HGNC:HGNC:736, HumanCyc Gene:HS06545, ModBase:Q02083, NCBI Gene:27163, OMIM:607469, RefSeq DNA:NT_016354, RefSeq Protein:NP_001035861, RefSeq Protein:NP_055250, RefSeq RNA:NM_001042402, RefSeq RNA:NM_014435, UniProtKB:Q02083 No chr4 76831808 76862166 75910655 75941013 +PA31430 10003 HGNC:14526 ENSG00000077616 N-acetylated alpha-linked acidic dipeptidase 2 NAALAD2 glutamate carboxypeptidase III GCPIII, GPCIII, NAADALASE2, NAALADASE2 Yes No Comparative Toxicogenomics Database:10003, Ensembl:ENSG00000077616, GenAtlas:NAALAD2, GeneCard:NAALAD2, HGNC:HGNC:14526, HumanCyc Gene:HS01253, ModBase:Q9Y3Q0, NCBI Gene:10003, OMIM:611636, RefSeq DNA:NT_167190, RefSeq Protein:NP_005458, RefSeq RNA:NM_005467, UCSC Genome Browser:NM_005467, UniProtKB:Q9Y3Q0 No chr11 89867772 89926062 90131694 90193577 +PA134867982 10004 HGNC:23536 ENSG00000168060 N-acetylated alpha-linked acidic dipeptidase like 1 NAALADL1 N-acetylated alpha-linked acidic dipeptidase-like 1, human ileal aminopeptidase, ileal peptidase I100 HILAP Yes No Ensembl:ENSG00000168060, GeneCard:NAALADL1, HGNC:HGNC:23536, HumanCyc Gene:HS09686, ModBase:Q9UQQ1, NCBI Gene:10004, OMIM:602640, RefSeq DNA:NT_167190, RefSeq Protein:NP_005459, RefSeq RNA:NM_005468, UniProtKB:Q9UQQ1 No chr11 64812295 64826009 65044818 65059020 +PA142671295 254827 HGNC:23219 ENSG00000177694 N-acetylated alpha-linked acidic dipeptidase like 2 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2, glutamate carboxypeptidase II-type non-peptidase homologue Yes No Ensembl:ENSG00000177694, GeneCard:NAALADL2, HGNC:HGNC:23219, NCBI Gene:254827, OMIM:608806, RefSeq DNA:NT_005612, RefSeq Protein:NP_996898, RefSeq RNA:NM_207015, UniProtKB:Q58DX5 No chr3 174577095 175523428 174439669 175809510 +PA31431 4664 HGNC:7626 ENSG00000138386 NGFI-A binding protein 1 NAB1 EGR1 binding protein 1, NGFI-A binding protein 1 (EGR1 binding protein 1) Yes No Comparative Toxicogenomics Database:4664, Ensembl:ENSG00000138386, GenAtlas:NAB1, GeneCard:NAB1, HGNC:HGNC:7626, HumanCyc Gene:HS06498, ModBase:Q13506, NCBI Gene:4664, OMIM:600800, RefSeq DNA:NT_005403, RefSeq Protein:NP_005957, RefSeq RNA:NM_005966, UCSC Genome Browser:NM_005966, UniProtKB:Q13506 No chr2 191513621 191557492 190648860 190692766 +PA31432 4665 HGNC:7627 ENSG00000166886 NGFI-A binding protein 2 NAB2 EGR1 binding protein 2, NGFI-A binding protein 2 (EGR1 binding protein 2) MADER Yes No Comparative Toxicogenomics Database:4665, Ensembl:ENSG00000166886, GenAtlas:NAB2, GeneCard:NAB2, HGNC:HGNC:7627, HumanCyc Gene:HS09472, ModBase:Q15742, NCBI Gene:4665, OMIM:602381, RefSeq DNA:NT_029419, RefSeq Protein:NP_005958, RefSeq RNA:NM_005967, UCSC Genome Browser:NM_005967, UniProtKB:Q15742 No chr12 57482677 57489259 57088894 57095476 +PA143485566 64859 HGNC:26232 ENSG00000173559 nucleic acid binding protein 1 NABP1 sensor of single-strand DNA complex subunit B2, single-stranded DNA-binding protein 2 DKFZp667M1322, FLJ13624, FLJ22833, MGC111163, NABP1-OT1, OBFC2A, SOSS-B2, SSB2, hSSB2 Yes No Comparative Toxicogenomics Database:64859, Ensembl:ENSG00000173559, GeneCard:OBFC2A, HGNC:HGNC:26232, HumanCyc Gene:HS16224, ModBase:Q96AH0, NCBI Gene:64859, OMIM:612103, RefSeq DNA:NT_005403, RefSeq Protein:NP_001026886, RefSeq RNA:NM_001031716, RefSeq RNA:NR_024415, UniProtKB:Q96AH0 No chr2 192542798 192553248 191678072 191688522 +PA143485567 79035 HGNC:28412 ENSG00000139579 nucleic acid binding protein 2 NABP2 sensor of single-strand DNA complex subunit B1, single strand DNA-binding protein 1 MGC2731, OBFC2B, SOSS-B1, SSB1, hSSB1 Yes No Comparative Toxicogenomics Database:79035, Ensembl:ENSG00000139579, GeneCard:OBFC2B, HGNC:HGNC:28412, HumanCyc Gene:HS13785, ModBase:Q9BQ15, NCBI Gene:79035, OMIM:612104, RefSeq DNA:NT_029419, RefSeq Protein:NP_076973, RefSeq RNA:NM_024068, UniProtKB:Q9BQ15 No chr12 56615813 56623638 56222039 56229858 +PA31433 4666 HGNC:7629 ENSG00000196531 nascent polypeptide associated complex subunit alpha NACA nascent polypeptide-associated complex alpha subunit Alpha-NAC, NACA1 Yes No Comparative Toxicogenomics Database:4666, Ensembl:ENSG00000196531, GenAtlas:NACA, GeneCard:NACA, HGNC:HGNC:7629, ModBase:Q13765, NCBI Gene:4666, OMIM:601234, RefSeq DNA:NT_029419, RefSeq Protein:NP_001106672, RefSeq Protein:NP_001106673, RefSeq Protein:NP_001106674, RefSeq Protein:NP_005585, RefSeq RNA:NM_001113201, RefSeq RNA:NM_001113202, RefSeq RNA:NM_001113203, RefSeq RNA:NM_005594, UCSC Genome Browser:NM_005594, UniProtKB:B2R4P8, UniProtKB:Q13765 No chr12 57106211 57119326 56712427 56726275 +PA162396699 342538 HGNC:23290 ENSG00000253506 nascent polypeptide associated complex subunit alpha 2 NACA2 alpha-NAC protein, nascent polypeptide-associated complex alpha subunit 2 MGC71999, NACAL Yes No Ensembl:ENSG00000253506, GeneCard:NACA2, HGNC:HGNC:23290, ModBase:Q9H009, NCBI Gene:342538, OMIM:609274, RefSeq DNA:NT_010783, RefSeq Protein:NP_954984, RefSeq RNA:NM_199290, UniProtKB:Q9H009 No chr17 59667794 59668563 61590433 61591202 +PA162396706 23148 HGNC:22196 ENSG00000136274 NAC alpha domain containing NACAD KIAA0363 Yes No Ensembl:ENSG00000136274, GeneCard:NACAD, HGNC:HGNC:22196, NCBI Gene:23148, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001139806, RefSeq Protein:XP_002342744, RefSeq Protein:XP_002344315, RefSeq Protein:XP_002346024, RefSeq Protein:XP_002346914, RefSeq RNA:NM_001146334, RefSeq RNA:XM_002342703, RefSeq RNA:XM_002344274, RefSeq RNA:XM_002345983, RefSeq RNA:XM_002346873, UniProtKB:O15069 No chr7 45120036 45128493 45080432 45089443 +PA164723404 112939 HGNC:20967 ENSG00000160877 nucleus accumbens associated 1 NACC1 """BEN domain containing 8"", ""nucleus accumbens associated 1"", ""nucleus accumbens associated 1, BEN and BTB (POZ) domain containing""" BEND8, BTBD14B, BTBD30, NAC-1, NAC1 Yes No Ensembl:ENSG00000160877, GeneCard:NACC1, HGNC:HGNC:20967, HumanCyc Gene:HS08546, ModBase:Q96RE7, NCBI Gene:112939, OMIM:610672, RefSeq DNA:NT_011295, RefSeq Protein:NP_443108, RefSeq RNA:NM_052876, UniProtKB:Q96RE7 No chr19 13228813 13251961 13116848 13141147 +PA164723421 138151 HGNC:23846 ENSG00000148411 NACC family member 2 NACC2 """BEN domain containing 9"", ""NACC family member 2, BEN and BTB (POZ) domain containing""" BEND9, BTBD14A, BTBD31, MGC23427 Yes No Ensembl:ENSG00000148411, GeneCard:NACC2, HGNC:HGNC:23846, HumanCyc Gene:HS07527, ModBase:Q96BF6, NCBI Gene:138151, RefSeq DNA:NT_019501, RefSeq Protein:NP_653254, RefSeq RNA:NM_144653, UniProtKB:Q96BF6 No chr9 138898383 138987131 136006537 136095285 +PA142671298 65220 HGNC:29831 ENSG00000008130 NAD kinase NADK FLJ13052, NADK1 Yes No Comparative Toxicogenomics Database:65220, Ensembl:ENSG00000008130, GeneCard:NADK, HGNC:HGNC:29831, HumanCyc Gene:HS00233, ModBase:O95544, NCBI Gene:65220, OMIM:611616, RefSeq DNA:NT_004350, RefSeq Protein:NP_001185922, RefSeq Protein:NP_001185923, RefSeq Protein:NP_001185924, RefSeq Protein:NP_075394, RefSeq RNA:NM_001198993, RefSeq RNA:NM_001198994, RefSeq RNA:NM_001198995, RefSeq RNA:NM_023018, UniProtKB:O95544 No chr1 1682671 1711508 1751232 1780514 +PA162380039 133686 HGNC:26404 ENSG00000152620 NAD kinase 2, mitochondrial NADK2 mitochondrial NAD kinase C5orf33, FLJ30596, MNADK, NADKD1 Yes No Ensembl:ENSG00000152620, GeneCard:C5orf33, HGNC:HGNC:26404, HumanCyc Gene:HS14437, ModBase:Q4G0N4, NCBI Gene:133686, RefSeq DNA:NT_006576, RefSeq Protein:NP_001078880, RefSeq Protein:NP_694558, RefSeq RNA:NM_001085411, RefSeq RNA:NM_153013, UniProtKB:Q4G0N4 No chr5 36192694 36242258 36192589 36242279 +PA142671299 55191 HGNC:29832 ENSG00000172890 NAD synthetase 1 NADSYN1 FLJ10631 Yes No Comparative Toxicogenomics Database:55191, Ensembl:ENSG00000172890, GeneCard:NADSYN1, HGNC:HGNC:29832, HumanCyc Gene:HS10587, ModBase:Q6IA69, NCBI Gene:55191, OMIM:608285, RefSeq DNA:NT_167190, RefSeq Protein:NP_060631, RefSeq RNA:NM_018161, UniProtKB:Q6IA69 No chr11 71164217 71212586 71453171 71501538 +PA162396730 8883 HGNC:621 ENSG00000159593 NEDD8 activating enzyme E1 subunit 1 NAE1 NEDD8-activating enzyme E1 subunit APP-BP1, APPBP1, ula-1 Yes No Ensembl:ENSG00000159593, GeneCard:NAE1, HGNC:HGNC:621, HumanCyc Gene:HS08411, ModBase:Q13564, NCBI Gene:8883, OMIM:603385, RefSeq DNA:NT_010498, RefSeq Protein:NP_001018169, RefSeq Protein:NP_001018170, RefSeq Protein:NP_003896, RefSeq RNA:NM_001018159, RefSeq RNA:NM_001018160, RefSeq RNA:NM_003905, UniProtKB:A6NFN4, UniProtKB:A8MU28, UniProtKB:Q13564 No chr16 66836781 66864880 66802878 66830977 +PA162396775 92345 HGNC:25126 ENSG00000145414 nuclear assembly factor 1 ribonucleoprotein NAF1 Yes Yes Ensembl:ENSG00000145414, GeneCard:NAF1, HGNC:HGNC:25126, HumanCyc Gene:HS14090, NCBI Gene:92345, RefSeq DNA:NT_016354, RefSeq Protein:NP_001122403, RefSeq Protein:NP_612395, RefSeq RNA:NM_001128931, RefSeq RNA:NM_138386, UniProtKB:Q96HR8 No chr4 164047860 164088073 163109133 163170388 +PA31435 4668 HGNC:7631 ENSG00000198951 alpha-N-acetylgalactosaminidase NAGA """N-acetylgalactosaminidase, alpha-"", ""alpha-galactosidase B""" D22S674 Yes No Comparative Toxicogenomics Database:4668, Ensembl:ENSG00000198951, GenAtlas:NAGA, GeneCard:NAGA, HGNC:HGNC:7631, HumanCyc Gene:HS01993, ModBase:P17050, NCBI Gene:4668, OMIM:104170, OMIM:609241, OMIM:609242, RefSeq DNA:NG_009247, RefSeq DNA:NT_011520, RefSeq Protein:NP_000253, RefSeq RNA:NM_000262, UCSC Genome Browser:NM_000262, UniProtKB:P17050 No chr22 42454338 42466852 42058334 42070870 +PA31436 55577 HGNC:17174 ENSG00000124357 N-acetylglucosamine kinase NAGK GNK Yes No Comparative Toxicogenomics Database:55577, Ensembl:ENSG00000124357, GenAtlas:NAGK, GeneCard:NAGK, HGNC:HGNC:17174, HumanCyc Gene:HS04763, ModBase:Q9UJ70, NCBI Gene:55577, OMIM:606828, RefSeq DNA:NT_022184, RefSeq Protein:NP_060037, RefSeq RNA:NM_017567, UCSC Genome Browser:NM_017567, UniProtKB:B4DLZ5, UniProtKB:Q9UJ70 No chr2 71295408 71305998 71068246 71078868 +PA31437 4669 HGNC:7632 ENSG00000108784 N-acetyl-alpha-glucosaminidase NAGLU """N-acetylglucosaminidase, alpha"", ""Sanfilippo disease IIIB""" NAG Yes No Comparative Toxicogenomics Database:4669, Ensembl:ENSG00000108784, GenAtlas:NAGLU, GeneCard:NAGLU, HGNC:HGNC:7632, HumanCyc Gene:HS03153, ModBase:P54802, NCBI Gene:4669, OMIM:252920, OMIM:609701, RefSeq DNA:NG_011552, RefSeq DNA:NT_010783, RefSeq Protein:NP_000254, RefSeq RNA:NM_000263, UCSC Genome Browser:NM_000263, UniProtKB:P54802 No chr17 40687951 40696467 42535933 42544449 +PA134940049 51172 HGNC:17378 ENSG00000103174 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase NAGPA APAA, UCE Yes No Comparative Toxicogenomics Database:51172, Ensembl:ENSG00000103174, GeneCard:NAGPA, HGNC:HGNC:17378, HumanCyc Gene:HS02465, ModBase:Q9UK23, NCBI Gene:51172, OMIM:607985, RefSeq DNA:NT_010393, RefSeq Protein:NP_057340, RefSeq RNA:NM_016256, UniProtKB:Q9UK23 No chr16 5074845 5083942 5024844 5033941 +PA134968729 162417 HGNC:17996 ENSG00000161653 N-acetylglutamate synthase NAGS AGAS, ARGA, NAT7 Yes No Comparative Toxicogenomics Database:162417, Ensembl:ENSG00000161653, GeneCard:NAGS, HGNC:HGNC:17996, HumanCyc Gene:HS08605, ModBase:Q8N159, NCBI Gene:162417, OMIM:237310, OMIM:608300, RefSeq DNA:NG_008106, RefSeq DNA:NT_010783, RefSeq Protein:NP_694551, RefSeq RNA:NM_153006, UniProtKB:Q8N159 No chr17 42082032 42086436 44004546 44009068 +PA162396796 203245 HGNC:25446 ENSG00000171169 nuclear apoptosis inducing factor 1 NAIF1 nuclear apoptosis-inducing factor 1 C9orf90, DKFZp762G199, bA379C10.2 Yes No Ensembl:ENSG00000171169, GeneCard:NAIF1, HGNC:HGNC:25446, ModBase:Q69YI7, NCBI Gene:203245, OMIM:610673, RefSeq DNA:NT_008470, RefSeq Protein:NP_931045, RefSeq RNA:NM_197956, UniProtKB:Q69YI7 No chr9 130823512 130829600 128061233 128067321 +PA162396805 4671 HGNC:7634 ENSG00000249437, ENSG00000250628 NLR family apoptosis inhibitory protein NAIP """NLR family, BIR domain containing 1"", ""NLR family, apoptosis inhibitory protein"", ""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1""" BIRC1, NLRB1 Yes No Ensembl:ENSG00000249437, Ensembl:ENSG00000250628, GeneCard:NAIP, HGNC:HGNC:7634, HumanCyc Gene:HS01401, ModBase:Q13075, NCBI Gene:4671, OMIM:600355, RefSeq DNA:NG_008724, RefSeq DNA:NT_006713, RefSeq Protein:NP_004527, RefSeq Protein:NP_075043, RefSeq Protein:XP_003403435, RefSeq Protein:XP_003403436, RefSeq Protein:XP_003403437, RefSeq Protein:XP_003403438, RefSeq RNA:NM_004536, RefSeq RNA:NM_022892, RefSeq RNA:XM_003403387, RefSeq RNA:XM_003403388, RefSeq RNA:XM_003403389, RefSeq RNA:XM_003403390, UniProtKB:Q13075 No chr5 70264310 70320941 70968483 71025114 +PA162396840 259232 HGNC:19082 ENSG00000102452 sodium leak channel, non-selective NALCN CanIon, VGCNL1, bA430M15.1 Yes Yes Ensembl:ENSG00000102452, GeneCard:NALCN, HGNC:HGNC:19082, HumanCyc Gene:HS02390, ModBase:Q8IZF0, NCBI Gene:259232, OMIM:611549, RefSeq DNA:NT_009952, RefSeq Protein:NP_443099, RefSeq RNA:NM_052867, UniProtKB:B3KMK1, UniProtKB:Q8IZF0 No chr13 101706130 102068813 101053774 101417206 +PA166351979 728215 HGNC:33877 NALCN channel auxiliary factor 1 NALF1 FAM155A, NLF-1 Yes No HGNC:HGNC:33877, NCBI Gene:728215 No 0 0 0 0 +PA166351980 27112 HGNC:30701 NALCN channel auxiliary factor 2 NALF2 CXorf63, FAM155B, TED, TMEM28 Yes No HGNC:HGNC:30701, NCBI Gene:27112 No 0 0 0 0 +PA162396933 10135 HGNC:30092 ENSG00000105835 nicotinamide phosphoribosyltransferase NAMPT visfatin PBEF, PBEF1 Yes Yes Ensembl:ENSG00000105835, GeneCard:NAMPT, HGNC:HGNC:30092, HumanCyc Gene:HS02817, ModBase:P43490, NCBI Gene:10135, OMIM:608764, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_005737, RefSeq RNA:NM_005746, UniProtKB:P43490 No chr7 105888731 105926373 106248285 106285732 +PA134864904 79923 HGNC:20857 ENSG00000111704 Nanog homeobox NANOG FLJ12581, FLJ40451 Yes No Comparative Toxicogenomics Database:79923, Ensembl:ENSG00000111704, GeneCard:NANOG, HGNC:HGNC:20857, HumanCyc Gene:HS03449, ModBase:Q9H9S0, NCBI Gene:79923, OMIM:607937, RefSeq DNA:NT_009714, RefSeq Protein:NP_079141, RefSeq RNA:NM_024865, UniProtKB:Q9H9S0 No chr12 7941995 7948655 7789396 7796061 +PA165513123 360030 HGNC:24958 ENSG00000205857 NANOG neighbor homeobox NANOGNB homeobox C14 Yes No Ensembl:ENSG00000205857, GeneCard:NANOGNB, HGNC:HGNC:24958, NCBI Gene:360030, RefSeq DNA:NT_009714, RefSeq Protein:NP_001138937, RefSeq RNA:NM_001145465, UniProtKB:Q7Z5D8 No chr12 7917812 7926717 7765216 7774121 +PA134899494 404635 HGNC:23099 ENSG00000176654 Nanog homeobox pseudogene 1 NANOGP1 NANOG2 Yes No Ensembl:ENSG00000176654, GeneCard:NANOGP1, HGNC:HGNC:23099, ModBase:Q8N7R0, NCBI Gene:404635, RefSeq DNA:NG_006522, RefSeq DNA:NT_009714 No chr12 8028871 8051665 7892356 7899246 +PA134993506 349372 HGNC:23108 ENSG00000231750 Nanog homeobox pseudogene 10 NANOGP10 Yes No Ensembl:ENSG00000231750, GeneCard:NANOGP10, HGNC:HGNC:23108, NCBI Gene:349372, RefSeq DNA:NG_004096, RefSeq DNA:NT_079573 No chrX 43266291 43267995 43407042 43408746 +PA145148414 414135 HGNC:32941 ENSG00000233464 Nanog homeobox pseudogene 11 NANOGP11 Yes No Ensembl:ENSG00000233464, GeneCard:NANOGP11, HGNC:HGNC:32941, NCBI Gene:414135, RefSeq DNA:NG_004103, RefSeq DNA:NT_025741 No chr6 152867750 152868150 152546597 152546965 +PA134878892 414131 HGNC:23100 ENSG00000228670 Nanog homeobox pseudogene 2 NANOGP2 NANOGP4 Yes No Ensembl:ENSG00000228670, GeneCard:NANOGP2, HGNC:HGNC:23100, NCBI Gene:414131, RefSeq DNA:NG_004099, RefSeq DNA:NT_005403 No chr2 223316894 223318200 222452042 222453486 +PA134919931 340217 HGNC:23101 ENSG00000271373 Nanog homeobox pseudogene 3 NANOGP3 Yes No Ensembl:ENSG00000271373, GeneCard:NANOGP3, HGNC:HGNC:23101, NCBI Gene:340217, RefSeq DNA:NG_004095, RefSeq DNA:NT_007592 No chr6 53283266 53283954 53418456 53418738 +PA134949513 414132 HGNC:23102 ENSG00000237065 Nanog homeobox pseudogene 4 NANOGP4 NANOGP2 Yes No Ensembl:ENSG00000237065, GeneCard:NANOGP4, HGNC:HGNC:23102, NCBI Gene:414132, RefSeq DNA:NG_004100, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 29251729 29253503 29212113 29213887 +PA134957051 414133 HGNC:23103 ENSG00000231697 Nanog homeobox pseudogene 5 NANOGP5 Yes No Ensembl:ENSG00000231697, GeneCard:NANOGP5, HGNC:HGNC:23103, NCBI Gene:414133, RefSeq DNA:NG_004101, RefSeq DNA:NT_008470 No chr9 102937281 102939278 100174999 100176996 +PA145148412 414134 HGNC:23104 ENSG00000227351 Nanog homeobox pseudogene 6 NANOGP6 Yes Yes Ensembl:ENSG00000227351, GeneCard:NANOGP6, HGNC:HGNC:23104, NCBI Gene:414134, RefSeq DNA:NG_004102, RefSeq DNA:NT_030059 No chr10 101548231 101549171 99788474 99789414 +PA134951365 414130 HGNC:23105 ENSG00000258774 Nanog homeobox pseudogene 7 NANOGP7 NANOGP3 Yes No Ensembl:ENSG00000258774, GeneCard:NANOGP7, HGNC:HGNC:23105, NCBI Gene:414130, RefSeq DNA:NG_004098, RefSeq DNA:NT_026437 No chr14 92070529 92071810 91604182 91605522 +PA134937301 388112 HGNC:23106 ENSG00000255192 Nanog homeobox retrogene P8 NANOGP8 Nanog homeobox pseudogene 8 Yes No Ensembl:ENSG00000255192, GeneCard:NANOGP8, HGNC:HGNC:23106, ModBase:Q6NSW7, NCBI Gene:388112, RefSeq DNA:NG_004093, RefSeq DNA:NT_010194 No chr15 35375427 35377509 35083224 35085308 +PA134993182 349386 HGNC:23107 ENSG00000231809 Nanog homeobox pseudogene 9 NANOGP9 Yes No Ensembl:ENSG00000231809, GeneCard:NANOGP9, HGNC:HGNC:23107, NCBI Gene:349386, RefSeq DNA:NG_004097, RefSeq DNA:NT_011669 No chrX 64991605 64993674 65771763 65773832 +PA134876543 340719 HGNC:23044 ENSG00000188613 nanos C2HC-type zinc finger 1 NANOS1 nanos homolog 1 (Drosophila) NOS1, ZC2HC12A Yes No Comparative Toxicogenomics Database:340719, Ensembl:ENSG00000188613, GeneCard:NANOS1, HGNC:HGNC:23044, ModBase:Q8WY41, NCBI Gene:340719, OMIM:608226, RefSeq DNA:NT_030059, RefSeq Protein:NP_955631, RefSeq RNA:NM_199461, UniProtKB:Q8WY41 No chr10 120789228 120793854 119029716 119033732 +PA134909776 339345 HGNC:23292 ENSG00000188425 nanos C2HC-type zinc finger 2 NANOS2 nanos homolog 2 (Drosophila) NOS2, ZC2HC12B Yes No Ensembl:ENSG00000188425, GeneCard:NANOS2, HGNC:HGNC:23292, NCBI Gene:339345, OMIM:608228, RefSeq DNA:NT_011109, RefSeq Protein:NP_001025032, RefSeq RNA:NM_001029861, UniProtKB:P60321 No chr19 46416472 46418036 45913214 45914778 +PA134867615 342977 HGNC:22048 ENSG00000187556 nanos C2HC-type zinc finger 3 NANOS3 nanos homolog 3 (Drosophila) NANOS1L, NOS3, ZC2HC12C Yes No Ensembl:ENSG00000187556, GeneCard:NANOS3, HGNC:HGNC:22048, NCBI Gene:342977, OMIM:608229, RefSeq DNA:NT_011295, RefSeq Protein:NP_001092092, RefSeq RNA:NM_001098622, UniProtKB:P60323 No chr19 13988063 13991571 13876383 13880762 +PA25689 140838 HGNC:16140 ENSG00000170191 N-acetylneuraminic acid phosphatase NANP C20orf147, HDHD4, MGC26833, dJ694B14.3 Yes No Ensembl:ENSG00000170191, GenAtlas:NANP, GeneCard:NANP, HGNC:HGNC:16140, HumanCyc Gene:HS10082, ModBase:Q8TBE9, NCBI Gene:140838, OMIM:610763, RefSeq DNA:NT_011387, RefSeq Protein:NP_689880, RefSeq RNA:NM_152667, UCSC Genome Browser:NM_152667, UniProtKB:Q8TBE9 No chr20 25593571 25604648 25612935 25624012 +PA134978885 54187 HGNC:19237 ENSG00000095380 N-acetylneuraminate synthase NANS N-acetylneuraminic acid synthase, sialic acid synthase SAS Yes No Comparative Toxicogenomics Database:54187, Ensembl:ENSG00000095380, GeneCard:NANS, HGNC:HGNC:19237, HumanCyc Gene:HS01818, ModBase:Q9NR45, NCBI Gene:54187, OMIM:605202, RefSeq DNA:NT_008470, RefSeq Protein:NP_061819, RefSeq RNA:NM_018946, UniProtKB:Q9NR45 No chr9 100818959 100845365 98056677 98083083 +PA31439 4673 HGNC:7637 ENSG00000187109 nucleosome assembly protein 1 like 1 NAP1L1 nucleosome assembly protein 1-like 1 MGC23410, MGC8688, NAP1, NAP1L, NRP Yes No Comparative Toxicogenomics Database:4673, Ensembl:ENSG00000187109, GenAtlas:NAP1L1, GeneCard:NAP1L1, HGNC:HGNC:7637, HumanCyc Gene:HS03431, ModBase:P55209, NCBI Gene:4673, OMIM:164060, RefSeq DNA:NT_029419, RefSeq Protein:NP_004528, RefSeq Protein:NP_631946, RefSeq RNA:NM_004537, RefSeq RNA:NM_139207, UCSC Genome Browser:NM_004537, UniProtKB:P55209 No chr12 76438672 76478738 76045383 76085033 +PA31440 4674 HGNC:7638 ENSG00000186462 nucleosome assembly protein 1 like 2 NAP1L2 nucleosome assembly protein 1-like 2 BPX, MGC26243 Yes No Ensembl:ENSG00000186462, GenAtlas:NAP1L2, GeneCard:NAP1L2, HGNC:HGNC:7638, ModBase:Q9ULW6, NCBI Gene:4674, OMIM:300026, RefSeq DNA:NG_013274, RefSeq DNA:NT_011669, RefSeq Protein:NP_068798, RefSeq RNA:NM_021963, UCSC Genome Browser:NM_021963, UniProtKB:Q9ULW6 No chrX 72432135 72434710 73212299 73214874 +PA31441 4675 HGNC:7639 ENSG00000186310 nucleosome assembly protein 1 like 3 NAP1L3 nucleosome assembly protein 1-like 3 MB20, MGC26312, NPL3 Yes No Comparative Toxicogenomics Database:4675, Ensembl:ENSG00000186310, GenAtlas:NAP1L3, GeneCard:NAP1L3, HGNC:HGNC:7639, ModBase:Q99457, NCBI Gene:4675, OMIM:300117, RefSeq DNA:NG_013275, RefSeq DNA:NT_011651, RefSeq Protein:NP_004529, RefSeq RNA:NM_004538, UCSC Genome Browser:NM_004538, UniProtKB:Q99457 No chrX 92925925 92928682 93670926 93673683 +PA31442 4676 HGNC:7640 ENSG00000205531 nucleosome assembly protein 1 like 4 NAP1L4 nucleosome assembly protein 1-like 4 NAP2 Yes No Comparative Toxicogenomics Database:4676, Ensembl:ENSG00000205531, GenAtlas:NAP1L4, GeneCard:NAP1L4, HGNC:HGNC:7640, ModBase:Q99733, NCBI Gene:4676, OMIM:601651, RefSeq DNA:NT_009237, RefSeq Protein:NP_005960, RefSeq RNA:NM_005969, UCSC Genome Browser:NM_005969, UniProtKB:Q99733 No chr11 2965660 3013607 2944430 2992377 +PA134921404 266812 HGNC:19968 ENSG00000177432 nucleosome assembly protein 1 like 5 NAP1L5 nucleosome assembly protein 1-like 5 DRLM Yes No Comparative Toxicogenomics Database:266812, Ensembl:ENSG00000177432, GeneCard:NAP1L5, HGNC:HGNC:19968, HumanCyc Gene:HS11168, ModBase:Q96NT1, NCBI Gene:266812, OMIM:612203, RefSeq DNA:NT_016354, RefSeq Protein:NP_715638, RefSeq RNA:NM_153757, UniProtKB:Q96NT1 No chr4 89617066 89619023 88695913 88698235 +PA31443 8775 HGNC:7641 ENSG00000105402 NSF attachment protein alpha NAPA """N-ethylmaleimide-sensitive factor attachment protein, alpha"", ""alpha SNAP"", ""alpha soluble NSF attachment protein""" Yes No Comparative Toxicogenomics Database:8775, Ensembl:ENSG00000105402, GenAtlas:NAPA, GeneCard:NAPA, HGNC:HGNC:7641, HumanCyc Gene:HS02734, ModBase:P54920, NCBI Gene:8775, OMIM:603215, RefSeq DNA:NT_011109, RefSeq Protein:NP_003818, RefSeq RNA:NM_003827, RefSeq RNA:NR_038456, RefSeq RNA:NR_038457, UCSC Genome Browser:NM_003827, UniProtKB:P54920 No chr19 47990891 48018515 47487634 47515258 +PA31444 63908 HGNC:15751 ENSG00000125814 NSF attachment protein beta NAPB """N-ethylmaleimide-sensitive factor attachment protein, beta"", ""beta soluble NSF attachment protein""" SNAP-BETA, SNAPB Yes No Comparative Toxicogenomics Database:63908, Ensembl:ENSG00000125814, GenAtlas:NAPB, GeneCard:NAPB, HGNC:HGNC:15751, HumanCyc Gene:HS04938, ModBase:Q9H115, NCBI Gene:63908, OMIM:611270, RefSeq DNA:NT_011387, RefSeq Protein:NP_071363, RefSeq RNA:NM_022080, UniProtKB:Q9H115 No chr20 23355156 23402156 23374519 23421519 +PA162396960 222236 HGNC:21683 ENSG00000161048 N-acyl phosphatidylethanolamine phospholipase D NAPEPLD chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D C7orf18, FMP30, NAPE-PLD Yes No Ensembl:ENSG00000161048, GeneCard:NAPEPLD, HGNC:HGNC:21683, ModBase:Q6IQ20, NCBI Gene:222236, OMIM:612334, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001116310, RefSeq Protein:NP_945341, RefSeq RNA:NM_001122838, RefSeq RNA:NM_198990, UniProtKB:Q6IQ20 No chr7 102740023 102791081 103099576 103149560 +PA31445 8774 HGNC:7642 ENSG00000134265 NSF attachment protein gamma NAPG """N-ethylmaleimide-sensitive factor attachment protein, gamma"", ""gamma SNAP""" Yes No Ensembl:ENSG00000134265, GenAtlas:NAPG, GeneCard:NAPG, HGNC:HGNC:7642, HumanCyc Gene:HS05849, ModBase:Q99747, NCBI Gene:8774, OMIM:603216, RefSeq DNA:NT_010859, RefSeq Protein:NP_003817, RefSeq RNA:NM_003826, UCSC Genome Browser:NM_003826, UniProtKB:Q6FHY4, UniProtKB:Q99747 No chr18 10525873 10552766 10525876 10552769 +PA142671293 93100 HGNC:30450 ENSG00000147813 nicotinate phosphoribosyltransferase NAPRT nicotinate phosphoribosyltransferase domain containing 1 NAPRT1, PP3856 Yes No Comparative Toxicogenomics Database:93100, Ensembl:ENSG00000147813, GeneCard:NAPRT1, HGNC:HGNC:30450, ModBase:Q6XQN6, NCBI Gene:93100, OMIM:611552, RefSeq DNA:NT_008046, RefSeq Protein:NP_660202, RefSeq RNA:NM_145201, UniProtKB:Q6XQN6 No chr8 144656955 144660881 143574661 143579694 +PA134891814 9476 HGNC:13395 ENSG00000131400 napsin A aspartic peptidase NAPSA kidney-derived aspartic protease-like protein KAP, Kdap, NAP1, NAPA Yes No Comparative Toxicogenomics Database:9476, Ensembl:ENSG00000131400, GeneCard:NAPSA, HGNC:HGNC:13395, HumanCyc Gene:HS05522, ModBase:O96009, NCBI Gene:9476, OMIM:605631, RefSeq DNA:NT_011109, RefSeq Protein:NP_004842, RefSeq RNA:NM_004851, UniProtKB:O96009 No chr19 50861734 50868931 50358472 50369331 +PA134924106 256236 HGNC:13396 ENSG00000131401 napsin B aspartic peptidase, pseudogene NAPSB NAP1L, NAP2, NAPB, NAPSBP Yes No Ensembl:ENSG00000131401, GeneCard:NAPSB, HGNC:HGNC:13396, NCBI Gene:256236, RefSeq DNA:NT_011109, RefSeq RNA:NR_002798 No chr19 50837057 50848005 50333800 50344748 +PA142671294 26502 HGNC:29916 ENSG00000141562 nuclear prelamin A recognition factor NARF iron-only hydrogenase-like protein 2 DKFZp434G0420, FLJ10067, IOP2 Yes No Comparative Toxicogenomics Database:26502, Ensembl:ENSG00000141562, GeneCard:NARF, HGNC:HGNC:29916, HumanCyc Gene:HS06851, ModBase:Q9UHQ1, NCBI Gene:26502, OMIM:605349, RefSeq DNA:NT_010663, RefSeq Protein:NP_001033707, RefSeq Protein:NP_001077077, RefSeq Protein:NP_036468, RefSeq Protein:NP_114174, RefSeq RNA:NM_001038618, RefSeq RNA:NM_001083608, RefSeq RNA:NM_012336, RefSeq RNA:NM_031968, UniProtKB:A8MSG3, UniProtKB:B3KPX2, UniProtKB:Q9UHQ1 No chr17 80415611 80446143 82458184 82490537 +PA31447 4677 HGNC:7643 asparaginyl-tRNA synthetase 1 NARS1 """asparagine tRNA ligase 1, cytoplasmic"", ""asparaginyl-tRNA synthetase""" AsnRS, NARS, NARS1 Yes No Comparative Toxicogenomics Database:4677, GenAtlas:NARS, GeneCard:NARS, HGNC:HGNC:7643, HumanCyc Gene:HS05869, ModBase:O43776, NCBI Gene:4677, OMIM:108410, RefSeq DNA:NT_025028, RefSeq Protein:NP_004530, RefSeq RNA:NM_004539, UCSC Genome Browser:NM_004539, UniProtKB:O43776 No chr18 55267888 55289177 57600656 57621945 +PA143485554 79731 HGNC:26274 ENSG00000137513 asparaginyl-tRNA synthetase 2, mitochondrial NARS2 """asparagine tRNA ligase 2, mitochondrial (putative)"", ""asparaginyl-tRNA synthetase 2, mitochondrial (putative)""" DFNB94, FLJ23441, SLM5 Yes No Ensembl:ENSG00000137513, GeneCard:NARS2, HGNC:HGNC:26274, HumanCyc Gene:HS06357, ModBase:Q96I59, NCBI Gene:79731, OMIM:612803, RefSeq DNA:NT_167190, RefSeq Protein:NP_078954, RefSeq RNA:NM_024678, RefSeq RNA:NR_027479, UniProtKB:Q96I59 No chr11 78147007 78285909 78435961 78574864 +PA31448 4678 HGNC:7644 ENSG00000132780 nuclear autoantigenic sperm protein NASP NASP histone chaperone, nuclear autoantigenic sperm protein (histone-binding) DKFZp547F162, FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, PRO1999 Yes No Comparative Toxicogenomics Database:4678, Ensembl:ENSG00000132780, GenAtlas:NASP, GeneCard:NASP, HGNC:HGNC:7644, HumanCyc Gene:HS05689, ModBase:P49321, NCBI Gene:4678, OMIM:603185, RefSeq DNA:NT_032977, RefSeq Protein:NP_001182122, RefSeq Protein:NP_002473, RefSeq Protein:NP_689511, RefSeq Protein:NP_751896, RefSeq RNA:NM_001195193, RefSeq RNA:NM_002482, RefSeq RNA:NM_152298, RefSeq RNA:NM_172164, UCSC Genome Browser:NM_002482, UniProtKB:P49321, UniProtKB:Q5T626 No chr1 46049660 46084578 45583988 45618906 +PA134969177 282694 HGNC:29910 ENSG00000255397 nuclear autoantigenic sperm protein pseudogene 1 NASPP1 Yes No Ensembl:ENSG00000255397, GeneCard:NASPP1, HGNC:HGNC:29910, NCBI Gene:282694, RefSeq DNA:NG_002431, RefSeq DNA:NT_008183 No chr8 61849507 61852537 60936948 60939978 +PA17 9 HGNC:7645 ENSG00000171428 N-acetyltransferase 1 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase), arylamine N-acetyltransferase 1 AAC1 Yes Yes Comparative Toxicogenomics Database:9, Ensembl:ENSG00000171428, GenAtlas:NAT1, GeneCard:NAT1, HGNC:HGNC:7645, HumanCyc Gene:HS10301, ModBase:P18440, NCBI Gene:9, OMIM:108345, RefSeq DNA:NG_012245, RefSeq DNA:NT_167187, RefSeq Protein:NP_000653, RefSeq Protein:NP_001153642, RefSeq Protein:NP_001153643, RefSeq Protein:NP_001153644, RefSeq Protein:NP_001153645, RefSeq Protein:NP_001153646, RefSeq Protein:NP_001153647, RefSeq Protein:NP_001153648, RefSeq Protein:NP_001153651, RefSeq RNA:NM_000662, RefSeq RNA:NM_001160170, RefSeq RNA:NM_001160171, RefSeq RNA:NM_001160172, RefSeq RNA:NM_001160173, RefSeq RNA:NM_001160174, RefSeq RNA:NM_001160175, RefSeq RNA:NM_001160176, RefSeq RNA:NM_001160179, UCSC Genome Browser:NM_000662, UniProtKB:P18440, UniProtKB:Q400J6, URL:http://nat.mbg.duth.gr/Human%20NAT1%20alleles_2013.htm No chr8 18027971 18081198 18170419 18223689 +PA143485555 55226 HGNC:29830 ENSG00000135372 N-acetyltransferase 10 NAT10 N-acetyltransferase 10 (GCN5-related) FLJ10774, FLJ12179, KIAA1709, Kre33, NET43, hALP Yes No Ensembl:ENSG00000135372, GeneCard:NAT10, HGNC:HGNC:29830, HumanCyc Gene:HS05989, ModBase:Q9H0A0, NCBI Gene:55226, OMIM:609221, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137502, RefSeq Protein:NP_078938, RefSeq RNA:NM_001144030, RefSeq RNA:NM_024662, UniProtKB:B4DFD5, UniProtKB:Q9H0A0 No chr11 34127111 34172581 34105564 34146911 +PA162396977 57106 HGNC:28918 ENSG00000090971 N-acetyltransferase 14 (putative) NAT14 """K562 cells-derived leucine zipper-like protein 1"", ""N-acetyltransferase 14 (GCN5-related, putative)""" KLP1 Yes No Ensembl:ENSG00000090971, GeneCard:NAT14, HGNC:HGNC:28918, HumanCyc Gene:HS01712, ModBase:Q8WUY8, NCBI Gene:57106, RefSeq DNA:NT_011109, RefSeq Protein:NP_065111, RefSeq RNA:NM_020378, UniProtKB:Q8WUY8 No chr19 55996557 55998935 55485190 55487568 +PA162380580 375607 HGNC:22030 ENSG00000167011 N-acetyltransferase 16 (putative) NAT16 N-acetyltransferase 16 (GCN5-related, putative) C7orf52, FLJ39237 Yes No Ensembl:ENSG00000167011, GeneCard:C7orf52, HGNC:HGNC:22030, ModBase:Q8N8M0, NCBI Gene:375607, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_940973, RefSeq RNA:NM_198571, UniProtKB:Q8N8M0 No chr7 100813774 100823557 101170493 101180276 +PA18 10 HGNC:7646 ENSG00000156006 N-acetyltransferase 2 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase), arylamine N-acetyltransferase 2 AAC2 Yes Yes Comparative Toxicogenomics Database:10, Ensembl:ENSG00000156006, GenAtlas:NAT2, GeneCard:NAT2, HGNC:HGNC:7646, HumanCyc Gene:HS08090, ModBase:Q96KY8, NCBI Gene:10, OMIM:243400, OMIM:612182, RefSeq DNA:NG_012246.1, RefSeq Protein:NP_000006, RefSeq RNA:NM_000015, UCSC Genome Browser:NM_000015, UniProtKB:A4Z6T7, UniProtKB:P11245, URL:http://nat.mbg.duth.gr/Human%20NAT2%20alleles_2013.htm No chr8 18248792 18258728 18386585 18401219 +PA31450 9027 HGNC:18069 ENSG00000144035 N-acetyltransferase 8 (putative) NAT8 N-acetyltransferase 8 (GCN5-related, putative) ATase2, GLA, Hcml1, TSC501 Yes No Comparative Toxicogenomics Database:9027, Ensembl:ENSG00000144035, GenAtlas:NAT8, GeneCard:NAT8, HGNC:HGNC:18069, HumanCyc Gene:HS07139, ModBase:Q9UHE5, NCBI Gene:9027, OMIM:606716, RefSeq DNA:NT_022184, RefSeq Protein:NP_003951, RefSeq RNA:NM_003960, UCSC Genome Browser:NM_003960, UniProtKB:Q9UHE5 No chr2 73867850 73869537 73640723 73642410 +PA162396978 51471 HGNC:30235 ENSG00000204872 N-acetyltransferase 8B (putative, gene/pseudogene) NAT8B N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) CML2, Hcml2, NAT8BP Yes No Ensembl:ENSG00000204872, GeneCard:NAT8B, HGNC:HGNC:30235, ModBase:Q9UHF3, NCBI Gene:51471, OMIM:608190, RefSeq DNA:NT_022184, RefSeq Protein:NP_057431, RefSeq RNA:NM_016347, UniProtKB:Q9UHF3 No chr2 73927636 73928467 73700509 73701340 +PA162396985 339983 HGNC:26742 ENSG00000185818 N-acetyltransferase 8 like NAT8L N-acetyltransferase 8-like (GCN5-related, putative) FLJ37478, Hcml3, Shati Yes No Ensembl:ENSG00000185818, GeneCard:NAT8L, HGNC:HGNC:26742, NCBI Gene:339983, OMIM:610647, RefSeq DNA:NT_006051, RefSeq Protein:NP_848652, RefSeq RNA:NM_178557, UniProtKB:Q8N9F0 No chr4 2061239 2070816 2059512 2069089 +PA142671281 26151 HGNC:23133 ENSG00000109065 N-acetyltransferase 9 NAT9 """N-acetyltransferase 9 (GCN5-related, putative)"", ""N-acetyltransferase 9 (putative)""" DKFZP564C103 Yes No Comparative Toxicogenomics Database:26151, Ensembl:ENSG00000109065, GeneCard:NAT9, HGNC:HGNC:23133, HumanCyc Gene:HS03192, ModBase:Q9BTE0, NCBI Gene:26151, RefSeq DNA:NT_010783, RefSeq Protein:NP_056469, RefSeq RNA:NM_015654, UniProtKB:Q9BTE0 No chr17 72766686 72772534 74770529 74776425 +PA164716941 256302 HGNC:30770 ENSG00000274180 N-acetyltransferase domain containing 1 NATD1 chromosome 17 open reading frame 103, gene trap locus F3b, transcript expressed during hematopoiesis 2 C17orf103, Gtlf3b, MGC33894 Yes No Ensembl:ENSG00000274180, GeneCard:C17orf103, HGNC:HGNC:30770, HumanCyc Gene:HS14501, NCBI Gene:256302, RefSeq DNA:NT_010718, RefSeq Protein:NP_690878, RefSeq RNA:NM_152914, UniProtKB:Q8N6N6 No chr17 21142183 21156578 21238870 21253266 +PA24362 11 HGNC:15 ENSG00000253937 arylamide acetylase pseudogene NATP AACP Yes No Ensembl:ENSG00000253937, GenAtlas:AACP, GeneCard:AACP, HGNC:HGNC:15, NCBI Gene:11, RefSeq DNA:NG_004857, RefSeq DNA:NT_167187 No chr8 18227419 18229387 18369910 18371878 +PA31451 89796 HGNC:15989 ENSG00000134369 neuron navigator 1 NAV1 neuron navigator-1, pore membrane and/or filament interacting like protein 3 DKFZp781D0314, FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1 Yes No Comparative Toxicogenomics Database:89796, Ensembl:ENSG00000134369, GenAtlas:NAV1, GeneCard:NAV1, HGNC:HGNC:15989, HumanCyc Gene:HS05862, ModBase:Q9H7V9, NCBI Gene:89796, OMIM:611628, RefSeq DNA:NT_004487, RefSeq Protein:NP_001161210, RefSeq Protein:NP_065176, RefSeq RNA:NM_001167738, RefSeq RNA:NM_020443, UCSC Genome Browser:NM_020443, UniProtKB:Q8NEY1 No chr1 201508243 201796102 201648322 201826974 +PA31452 89797 HGNC:15997 ENSG00000166833 neuron navigator 2 NAV2 """helicase, APC down-regulated 1"", ""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1""" FLJ10633, FLJ11030, FLJ23707, HELAD1, KIAA1419, POMFIL2, RAINB1 Yes Yes Comparative Toxicogenomics Database:89797, Ensembl:ENSG00000166833, GenAtlas:NAV2, GeneCard:NAV2, HGNC:HGNC:15997, HumanCyc Gene:HS09459, ModBase:Q8NHD0, NCBI Gene:89797, OMIM:607026, RefSeq DNA:NT_009237, RefSeq Protein:NP_001104488, RefSeq Protein:NP_001104489, RefSeq Protein:NP_660093, RefSeq Protein:NP_892009, RefSeq RNA:NM_001111018, RefSeq RNA:NM_001111019, RefSeq RNA:NM_145117, RefSeq RNA:NM_182964, UCSC Genome Browser:NM_018162, UCSC Genome Browser:NM_145117, UniProtKB:A6NEC1, UniProtKB:A7E2D6, UniProtKB:Q8IVL1 No chr11 19372271 20143147 19345200 20121601 +PA31453 89795 HGNC:15998 ENSG00000067798 neuron navigator 3 NAV3 pore membrane and/or filament interacting like protein 1, steerin 3 KIAA0938, POMFIL1 Yes No Comparative Toxicogenomics Database:89795, Ensembl:ENSG00000067798, GenAtlas:NAV3, GeneCard:NAV3, HGNC:HGNC:15998, HumanCyc Gene:HS00918, NCBI Gene:89795, OMIM:611629, RefSeq DNA:NT_029419, RefSeq Protein:NP_055718, RefSeq RNA:NM_014903, UCSC Genome Browser:NM_014903, UniProtKB:Q8IVL0 No chr12 78224685 78606790 77571862 78213012 +PA164717652 55739 HGNC:25576 ENSG00000213995 NAD(P)HX dehydratase NAXD ATP-dependent NAD(P)H-hydrate dehydratase, carbohydrate kinase domain containing CARKD, FLJ10769, LP3298 Yes No Ensembl:ENSG00000213995, GeneCard:CARKD, HGNC:HGNC:25576, HumanCyc Gene:HS07908, ModBase:Q8IW45, NCBI Gene:55739, RefSeq DNA:NT_009952, RefSeq Protein:NP_001229810, RefSeq Protein:NP_001229811, RefSeq Protein:NP_001229812, RefSeq Protein:NP_060680, RefSeq RNA:NM_001242881, RefSeq RNA:NM_001242882, RefSeq RNA:NM_001242883, RefSeq RNA:NM_018210, RefSeq RNA:NR_040103, RefSeq RNA:NR_040104, UniProtKB:Q8IW45 No chr13 111267807 111292343 110615460 110639996 +PA38538 128240 HGNC:18453 ENSG00000163382 NAD(P)HX epimerase NAXE NAD(P)H-hydrate epimerase, apoA-I binding protein, apolipoprotein A-I binding protein AIBP, APOA1BP, MGC119143, MGC119144, MGC119145, YJEFN1 Yes No Comparative Toxicogenomics Database:128240, Ensembl:ENSG00000163382, GenAtlas:APOA1BP, GeneCard:APOA1BP, HGNC:HGNC:18453, HumanCyc Gene:HS08839, ModBase:Q8NCW5, NCBI Gene:128240, OMIM:608862, RefSeq DNA:NT_004487, RefSeq Protein:NP_658985, RefSeq RNA:NM_144772, UCSC Genome Browser:NM_144772, UniProtKB:Q8NCW5 No chr1 156561554 156564091 156591762 156599818 +PA164723457 51594 HGNC:15625 ENSG00000151779 NBAS subunit of NRZ tethering complex NBAS neuroblastoma amplified sequence NAG Yes Yes Ensembl:ENSG00000151779, GeneCard:NBAS, HGNC:HGNC:15625, HumanCyc Gene:HS07769, NCBI Gene:51594, OMIM:608025, RefSeq DNA:NT_005334, RefSeq Protein:NP_056993, RefSeq RNA:NM_015909, UCSC Genome Browser:NM_015909, UniProtKB:A2RRP1 No chr2 15307032 15701472 14998067 15561348 +PA166181579 550643 HGNC:50713 ENSG00000204272 negative regulator of P-body association NBDY non-annotated P-body dissociating polypeptide LINC01420, NoBody Yes No Ensembl:ENSG00000204272, HGNC:HGNC:50713, NCBI Gene:550643 No 0 0 0 0 +PA31454 26960 HGNC:7648 ENSG00000172915 neurobeachin NBEA BCL8B, FLJ10197, KIAA1544, LYST2 Yes Yes Comparative Toxicogenomics Database:26960, Ensembl:ENSG00000172915, GenAtlas:NBEA, GeneCard:NBEA, HGNC:HGNC:7648, HumanCyc Gene:HS16148, ModBase:Q8NFP9, NCBI Gene:26960, OMIM:604889, RefSeq DNA:NT_024524, RefSeq Protein:NP_001191126, RefSeq Protein:NP_056493, RefSeq RNA:NM_001204197, RefSeq RNA:NM_015678, UCSC Genome Browser:NM_015678, UniProtKB:B3KXQ8, UniProtKB:Q8NFP9 No chr13 35516424 36246874 34942287 35672737 +PA24740 65065 HGNC:20681 ENSG00000144426 neurobeachin like 1 NBEAL1 neurobeachin-like 1 ALS2CR16, ALS2CR17, MGC164581 Yes No Ensembl:ENSG00000144426, GenAtlas:NBEAL1, GeneCard:NBEAL1, HGNC:HGNC:20681, HumanCyc Gene:HS14023, NCBI Gene:65065, OMIM:609816, RefSeq DNA:NT_005403, RefSeq Protein:NP_001092743, RefSeq Protein:NP_001107604, RefSeq Protein:NP_945183, RefSeq RNA:NM_001099273, RefSeq RNA:NM_001114132, RefSeq RNA:NM_198945, UniProtKB:Q6ZS30 No chr2 203879597 204091101 203014624 203225194 +PA128394612 23218 HGNC:31928 ENSG00000160796 neurobeachin like 2 NBEAL2 neurobeachin-like 2 KIAA0540 Yes No Ensembl:ENSG00000160796, GeneCard:NBEAL2, HGNC:HGNC:31928, NCBI Gene:23218, RefSeq DNA:NT_022517, RefSeq Protein:NP_055990, RefSeq RNA:NM_015175, UniProtKB:Q6ZNJ1 No chr3 47021173 47051194 46979683 47009704 +PA25317 606 HGNC:1007 ENSG00000258590 neurobeachin pseudogene 1 NBEAP1 BCL8A Yes No Ensembl:ENSG00000258590, GenAtlas:BCL8, GeneCard:NBEAP1, HGNC:HGNC:1007, NCBI Gene:606, OMIM:601889, RefSeq DNA:NT_037852, RefSeq RNA:NR_027992 No chr15 20874797 20961480 20669468 20756151 +PA31456 4681 HGNC:7650 ENSG00000158747 NBL1, DAN family BMP antagonist NBL1 """differential screening-selected gene aberrant in neuroblastoma"", ""neuroblastoma 1, DAN family BMP antagonist"", ""neuroblastoma candidate region, suppression of tumorigenicity 1"", ""neuroblastoma suppressor of tumorigenicity 1""" D1S1733E, DAN, DAND1, NB, NO3 Yes No Comparative Toxicogenomics Database:4681, Ensembl:ENSG00000158747, GenAtlas:NBL1, GeneCard:NBL1, HGNC:HGNC:7650, HumanCyc Gene:HS08323, ModBase:P41271, NCBI Gene:4681, OMIM:600613, RefSeq DNA:NT_004610, RefSeq Protein:NP_001191013, RefSeq Protein:NP_001191014, RefSeq Protein:NP_001191015, RefSeq Protein:NP_005371, RefSeq Protein:NP_877421, RefSeq RNA:NM_001204084, RefSeq RNA:NM_001204085, RefSeq RNA:NM_001204086, RefSeq RNA:NM_005380, RefSeq RNA:NM_182744, UCSC Genome Browser:NM_005380, UniProtKB:P41271 No chr1 19969723 19984949 19643229 19658456 +PA31457 4683 HGNC:7652 ENSG00000104320 nibrin NBN AT-V1, AT-V2, ATV, NBS, NBS1 Yes No Comparative Toxicogenomics Database:4683, Ensembl:ENSG00000104320, GenAtlas:NBN, GeneCard:NBN, HGNC:HGNC:7652, HumanCyc Gene:HS02562, ModBase:O60934, NCBI Gene:4683, OMIM:251260, OMIM:602667, RefSeq DNA:NG_008860, RefSeq DNA:NT_008046, RefSeq Protein:NP_002476, RefSeq RNA:NM_002485, UCSC Genome Browser:NM_002485, UniProtKB:O60934 No chr8 90945564 90996952 89933336 89984733 +PA128395786 55672 HGNC:26088 ENSG00000219481 NBPF member 1 NBPF1 neuroblastoma breakpoint family, member 1 FLJ20719, KIAA1693 Yes No Comparative Toxicogenomics Database:55672, Ensembl:ENSG00000219481, GeneCard:NBPF1, HGNC:HGNC:26088, HumanCyc Gene:HS16464, HumanCyc Gene:HS17310, ModBase:Q3BBV0, NCBI Gene:55672, OMIM:610501, RefSeq DNA:NT_004610, RefSeq Protein:NP_060410, RefSeq RNA:NM_017940, UCSC Genome Browser:NM_017940, UniProtKB:Q3BBV0 No chr1 16888922 16940100 16562427 16613605 +PA142671290 100132406 HGNC:31992 ENSG00000271425 NBPF member 10 NBPF10 neuroblastoma breakpoint family, member 10 AG1 Yes No Ensembl:ENSG00000271425, GeneCard:NBPF10, HGNC:HGNC:31992, ModBase:Q6P3W6, NCBI Gene:100132406, RefSeq DNA:NT_167185, RefSeq Protein:NP_001034792, RefSeq RNA:NM_001039703 No chr1 145293371 145368684 146066318 146144804 +PA142671291 200030 HGNC:31993 ENSG00000263956 NBPF member 11 NBPF11 neuroblastoma breakpoint family, member 11 NBPF24 Yes No Ensembl:ENSG00000263956, GeneCard:NBPF11, HGNC:HGNC:31993, NCBI Gene:200030, RefSeq DNA:NT_167185, RefSeq Protein:NP_899228, RefSeq RNA:NM_183372 No chr1 146032542 146082633 148102046 148152190 +PA142671602 149013 HGNC:24297 ENSG00000268043 NBPF member 12 NBPF12 neuroblastoma breakpoint family, member 12 COAS1, KIAA1245 Yes No Ensembl:ENSG00000268043, GeneCard:KIAA1245, GeneCard:NBPF12, HGNC:HGNC:24297, NCBI Gene:149013, OMIM:608607, RefSeq DNA:NT_034400, RefSeq Protein:XP_001715862, RefSeq Protein:XP_003119193, RefSeq Protein:XP_003119194, RefSeq Protein:XP_003119199, RefSeq RNA:XM_001715810, RefSeq RNA:XM_003119145, RefSeq RNA:XM_003119146, RefSeq RNA:XM_003119151 No chr1 146373704 146467639 146938545 146996093 +PA142671272 644861 HGNC:31995 ENSG00000283342 neuroblastoma breakpoint family, member 13, pseudogene NBPF13P Yes No Ensembl:ENSG00000283342, GeneCard:NBPF13P, HGNC:HGNC:31995, NCBI Gene:644861, RefSeq DNA:NG_005554, RefSeq DNA:NT_167185 No chr1 146571066 146585928 147099482 147114346 +PA142671273 25832 HGNC:25232 ENSG00000270629 NBPF member 14 NBPF14 neuroblastoma breakpoint family, member 14 DJ328E19.C1.1 Yes No Ensembl:ENSG00000270629, GeneCard:NBPF14, HGNC:HGNC:25232, HumanCyc Gene:HS13058, ModBase:Q5TI25, NCBI Gene:25832, RefSeq DNA:NT_167185, RefSeq Protein:NP_056198, RefSeq RNA:NM_015383, UniProtKB:Q5TI25 No chr1 148003031 148025865 148531385 148607636 +PA142671274 284565 HGNC:28791 ENSG00000266338 NBPF member 15 NBPF15 neuroblastoma breakpoint family, member 15 MGC8902, NBPF16 Yes No Ensembl:ENSG00000266338, GeneCard:NBPF15, HGNC:HGNC:28791, NCBI Gene:284565, OMIM:610414, RefSeq DNA:NT_004487, RefSeq Protein:NP_001164226, RefSeq Protein:NP_775909, RefSeq RNA:NM_001170755, RefSeq RNA:NM_173638, UniProtKB:Q8N660 No chr1 148555986 148596267 144421386 144459464 +PA142671276 401967 HGNC:31997 ENSG00000179571 neuroblastoma breakpoint family, member 17, pseudogene NBPF17P NBPF23 Yes No Ensembl:ENSG00000179571, GeneCard:NBPF17P, HGNC:HGNC:31997, NCBI Gene:401967, RefSeq DNA:NG_005550, RefSeq DNA:NT_004487 No chr1 149089775 149106106 143595216 143635780 +PA142671277 441908 HGNC:31998 ENSG00000240667 neuroblastoma breakpoint family, member 18, pseudogene NBPF18P Yes No Ensembl:ENSG00000240667, GeneCard:NBPF18P, HGNC:HGNC:31998, NCBI Gene:441908, RefSeq DNA:NG_005552, RefSeq DNA:NT_004487 No chr1 151990754 151994985 152018278 152022509 +PA142671278 101060226 HGNC:31999 ENSG00000271383 NBPF member 19 NBPF19 neuroblastoma breakpoint family, member 19 Yes No Ensembl:ENSG00000271383, GeneCard:NBPF19, HGNC:HGNC:31999, NCBI Gene:101060226 No chr1 6290163 6371669 149472955 149556256 +PA142671279 100288142 HGNC:32000 ENSG00000162825 NBPF member 20 NBPF20 neuroblastoma breakpoint family, member 20 Yes No Ensembl:ENSG00000162825, GeneCard:NBPF20, HGNC:HGNC:32000, ModBase:Q3BBV1, NCBI Gene:100288142 No chr1 148250249 148347262 145289900 145405778 +PA142671280 205655 HGNC:32001 ENSG00000231382 neuroblastoma breakpoint family, member 21, pseudogene NBPF21P Yes No Ensembl:ENSG00000231382, GeneCard:NBPF21P, HGNC:HGNC:32001, NCBI Gene:205655, RefSeq DNA:NG_005549, RefSeq DNA:NT_022517 No chr3 36657501 36679289 36616009 36637797 +PA166123706 101060684 HGNC:49571 ENSG00000273136 NBPF member 26 NBPF26 neuroblastoma breakpoint family, member 26 Yes No Ensembl:ENSG00000273136, HGNC:HGNC:49571, NCBI Gene:101060684 No +PA142671282 343381 HGNC:31987 ENSG00000227001 neuroblastoma breakpoint family, member 2, pseudogene NBPF2P Yes No Ensembl:ENSG00000227001, GeneCard:NBPF2P, HGNC:HGNC:31987, NCBI Gene:343381, RefSeq DNA:NG_005533, RefSeq DNA:NT_004610 No chr1 21749601 21754453 21423108 21427960 +PA142671283 84224 HGNC:25076 ENSG00000142794 NBPF member 3 NBPF3 neuroblastoma breakpoint family, member 3 AE2 Yes No Ensembl:ENSG00000142794, GeneCard:NBPF3, HGNC:HGNC:25076, HumanCyc Gene:HS13939, ModBase:Q8TC96, NCBI Gene:84224, OMIM:612992, RefSeq DNA:NT_004610, RefSeq Protein:NP_115640, RefSeq RNA:NM_032264, UniProtKB:B3KTI0, UniProtKB:Q9H094 No chr1 21766583 21811393 21436775 21484900 +PA142671284 148545 HGNC:26550 ENSG00000196427 NBPF member 4 NBPF4 neuroblastoma breakpoint family, member 4 FLJ32833 Yes No Ensembl:ENSG00000196427, GeneCard:NBPF4, HGNC:HGNC:26550, HumanCyc Gene:HS14944, NCBI Gene:148545, RefSeq DNA:NT_032977, RefSeq Protein:NP_001137461, RefSeq RNA:NM_001143989, UniProtKB:B7ZAX3, UniProtKB:Q5T483, UniProtKB:Q96M43 No chr1 108765902 108786720 108222464 108244081 +PA142671285 100507044 HGNC:24491 ENSG00000243967 neuroblastoma breakpoint family, member 5, pseudogene NBPF5P Yes No Ensembl:ENSG00000243967, GeneCard:NBPF5, HGNC:HGNC:24491, NCBI Gene:100507044, RefSeq DNA:NT_019273, RefSeq Protein:XP_001714524, RefSeq RNA:XM_001714472 No chr1 108918741 108926235 108375971 108383614 +PA142671286 653149 HGNC:31988 ENSG00000186086 NBPF member 6 NBPF6 neuroblastoma breakpoint family, member 6 Yes No Ensembl:ENSG00000186086, GeneCard:NBPF6, HGNC:HGNC:31988, ModBase:Q5VWK0, NCBI Gene:653149, RefSeq DNA:NT_032977, RefSeq Protein:NP_001137459, RefSeq Protein:NP_001137460, RefSeq RNA:NM_001143987, RefSeq RNA:NM_001143988, UniProtKB:Q5VWK0 No chr1 108992887 109013639 108421496 108471903 +PA142671288 728841 HGNC:31990 ENSG00000270231 NBPF member 8 NBPF8 neuroblastoma breakpoint family, member 8 NBPF8P Yes No Ensembl:ENSG00000270231, GeneCard:NBPF8, HGNC:HGNC:31990, NCBI Gene:728841, RefSeq DNA:NT_079497, RefSeq Protein:XP_001726998, RefSeq Protein:XP_002346267, RefSeq RNA:XM_001726946, RefSeq RNA:XM_002346226, RefSeq RNA:XR_110613 No chr1 144169149 144224264 120436351 120467844 +PA142671289 400818 HGNC:31991 ENSG00000269713 NBPF member 9 NBPF9 neuroblastoma breakpoint family, member 9 AE01 Yes No Ensembl:ENSG00000269713, GeneCard:NBPF9, HGNC:HGNC:31991, NCBI Gene:400818, RefSeq DNA:NT_077933, RefSeq DNA:NT_167185, RefSeq Protein:NP_001032764, RefSeq RNA:NM_001037675, UniProtKB:Q3BBV1, UniProtKB:Q3BBV2 No chr1 144811743 144830407 149054033 149090861 +PA30510 4077 HGNC:6746 ENSG00000188554 NBR1 autophagy cargo receptor NBR1 """NBR1, autophagy cargo receptor"", ""neighbor of BRCA1 gene 1""" 1A1-3B, CA125, KIAA0049, M17S2 Yes No Comparative Toxicogenomics Database:4077, Ensembl:ENSG00000188554, GenAtlas:NBR1, GeneCard:NBR1, HGNC:HGNC:6746, NCBI Gene:4077, OMIM:166945, RefSeq DNA:NT_010783, RefSeq Protein:NP_005890, RefSeq Protein:NP_114064, RefSeq Protein:NP_114068, RefSeq RNA:NM_005899, RefSeq RNA:NM_031858, RefSeq RNA:NM_031862, UCSC Genome Browser:NM_005899, UniProtKB:Q14596 No chr17 41322498 41363707 43170471 43211689 +PA134896632 10230 HGNC:20691 ENSG00000198496 neighbor of BRCA1 gene 2 (non-protein coding) NBR2 non-protein coding RNA 192 NCRNA00192 Yes No Ensembl:ENSG00000198496, GeneCard:NBR2, HGNC:HGNC:20691, NCBI Gene:10230, RefSeq DNA:NT_010783, RefSeq RNA:NR_003108 No chr17 41277600 41297130 43125583 43145113 +PA31458 83988 HGNC:7655 ENSG00000104490 neurocalcin delta NCALD Yes No Comparative Toxicogenomics Database:83988, Ensembl:ENSG00000104490, GenAtlas:NCALD, GeneCard:NCALD, HGNC:HGNC:7655, HumanCyc Gene:HS02587, ModBase:P61601, NCBI Gene:83988, OMIM:606722, RefSeq DNA:NT_008046, RefSeq Protein:NP_001035714, RefSeq Protein:NP_001035715, RefSeq Protein:NP_001035716, RefSeq Protein:NP_001035717, RefSeq Protein:NP_001035718, RefSeq Protein:NP_001035719, RefSeq Protein:NP_001035720, RefSeq Protein:NP_114430, RefSeq RNA:NM_001040624, RefSeq RNA:NM_001040625, RefSeq RNA:NM_001040626, RefSeq RNA:NM_001040627, RefSeq RNA:NM_001040628, RefSeq RNA:NM_001040629, RefSeq RNA:NM_001040630, RefSeq RNA:NM_032041, UCSC Genome Browser:NM_032041, UniProtKB:B2RB70, UniProtKB:P61601 No chr8 102698770 103137135 101686542 102124907 +PA31459 4684 HGNC:7656 ENSG00000149294 neural cell adhesion molecule 1 NCAM1 CD56, NCAM Yes Yes Comparative Toxicogenomics Database:4684, Ensembl:ENSG00000149294, GenAtlas:NCAM1, GeneCard:NCAM1, HGNC:HGNC:7656, HumanCyc Gene:HS07601, ModBase:Q59FL7, NCBI Gene:4684, OMIM:116930, RefSeq DNA:NT_033899, RefSeq Protein:NP_000606, RefSeq Protein:NP_001070150, RefSeq Protein:NP_001229536, RefSeq Protein:NP_001229537, RefSeq Protein:NP_851996, RefSeq RNA:NM_000615, RefSeq RNA:NM_001076682, RefSeq RNA:NM_001242607, RefSeq RNA:NM_001242608, RefSeq RNA:NM_181351, UCSC Genome Browser:NM_000615, UniProtKB:P13591 No chr11 112831969 113149158 112961247 113278436 +PA31460 4685 HGNC:7657 ENSG00000154654 neural cell adhesion molecule 2 NCAM2 MGC51008, NCAM21 Yes No Comparative Toxicogenomics Database:4685, Ensembl:ENSG00000154654, GenAtlas:NCAM2, GeneCard:NCAM2, HGNC:HGNC:7657, HumanCyc Gene:HS07998, ModBase:O15394, NCBI Gene:4685, OMIM:602040, RefSeq DNA:NT_011512, RefSeq Protein:NP_004531, RefSeq RNA:NM_004540, UCSC Genome Browser:NM_004540, UniProtKB:O15394 No chr21 22370633 22913892 20998315 21543324 +PA162396986 1463 HGNC:2465 ENSG00000130287 neurocan NCAN neurocan proteoglycan CSPG3 Yes No Ensembl:ENSG00000130287, GeneCard:NCAN, HGNC:HGNC:2465, HumanCyc Gene:HS05363, ModBase:O14594, NCBI Gene:1463, OMIM:600826, RefSeq DNA:NT_011295, RefSeq Protein:NP_004377, RefSeq RNA:NM_004386, UniProtKB:O14594, UniProtKB:Q4LE67 No chr19 19322773 19363061 19211973 19252252 +PA162397021 9918 HGNC:24305 ENSG00000010292 non-SMC condensin I complex subunit D2 NCAPD2 """chromosome condensation related SMC associated protein 1"", ""non-SMC condensin I complex, subunit D2""" CAP-D2, CNAP1, KIAA0159, hCAP-D2 Yes No Ensembl:ENSG00000010292, GeneCard:NCAPD2, HGNC:HGNC:24305, HumanCyc Gene:HS12034, ModBase:Q15021, NCBI Gene:9918, RefSeq DNA:NT_009759, RefSeq Protein:NP_055680, RefSeq RNA:NM_014865, UniProtKB:B3KMS0, UniProtKB:B3KY03, UniProtKB:Q15021 No chr12 6602547 6641132 6494132 6531966 +PA162397090 23310 HGNC:28952 ENSG00000151503 non-SMC condensin II complex subunit D3 NCAPD3 non-SMC condensin II complex, subunit D3 CAP-D3, FLJ42888, KIAA0056, hCAP-D3, hHCP-6, hcp-6 Yes No Ensembl:ENSG00000151503, GeneCard:NCAPD3, HGNC:HGNC:28952, ModBase:P42695, NCBI Gene:23310, OMIM:609276, RefSeq DNA:NT_033899, RefSeq Protein:NP_056076, RefSeq RNA:NM_015261, UniProtKB:P42695 No chr11 134022337 134094426 134152442 134225443 +PA162397165 64151 HGNC:24304 ENSG00000109805 non-SMC condensin I complex subunit G NCAPG """chromosome condensation protein G"", ""non-SMC condensin I complex, subunit G""" CAP-G, FLJ12450, YCG1, hCAP-G Yes No Ensembl:ENSG00000109805, GeneCard:NCAPG, HGNC:HGNC:24304, HumanCyc Gene:HS12700, ModBase:Q9BPX3, NCBI Gene:64151, OMIM:606280, RefSeq DNA:NT_006316, RefSeq Protein:NP_071741, RefSeq RNA:NM_022346, UniProtKB:Q9BPX3 No chr4 17812436 17846488 17810813 17844865 +PA162397212 54892 HGNC:21904 ENSG00000146918 non-SMC condensin II complex subunit G2 NCAPG2 non-SMC condensin II complex, subunit G2 CAP-G2, FLJ20311, LUZP5, MTB, hCAP-G2 Yes No Ensembl:ENSG00000146918, GeneCard:NCAPG2, HGNC:HGNC:21904, HumanCyc Gene:HS14184, ModBase:Q86XI2, NCBI Gene:54892, OMIM:608532, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_060230, RefSeq RNA:NM_017760, UniProtKB:Q86XI2 No chr7 158424002 158497520 158631169 158704831 +PA162397273 23397 HGNC:1112 ENSG00000121152 non-SMC condensin I complex subunit H NCAPH non-SMC condensin I complex, subunit H BRRN1, CAP-H, NCAPH1, hCAP-H Yes No Ensembl:ENSG00000121152, GeneCard:NCAPH, HGNC:HGNC:1112, HumanCyc Gene:HS13013, ModBase:Q15003, NCBI Gene:23397, OMIM:602332, RefSeq DNA:NT_022171, RefSeq Protein:NP_056156, RefSeq RNA:NM_015341, UniProtKB:Q15003 No chr2 97001479 97042833 96335741 96377095 +PA162397314 29781 HGNC:25071 ENSG00000025770 non-SMC condensin II complex subunit H2 NCAPH2 """CAP-H2 subunit of the condensin II complex"", ""kleisin beta"", ""non-SMC condensin II complex, subunit H2""" 384D8-2, CAP-H2, hCAP-H2 Yes No Ensembl:ENSG00000025770, GeneCard:NCAPH2, HGNC:HGNC:25071, HumanCyc Gene:HS12074, ModBase:Q6IBW4, NCBI Gene:29781, OMIM:611230, RefSeq DNA:NG_021419, RefSeq DNA:NT_011526, RefSeq Protein:NP_001171940, RefSeq Protein:NP_055366, RefSeq Protein:NP_689512, RefSeq RNA:NM_001185011, RefSeq RNA:NM_014551, RefSeq RNA:NM_152299, UniProtKB:Q6IBW4 No chr22 50946645 50963209 50508216 50524780 +PA31461 4686 HGNC:7658 ENSG00000136937 nuclear cap binding protein subunit 1 NCBP1 nuclear cap binding protein subunit 1, 80kDa CBP80, NCBP, Sto1 Yes No Ensembl:ENSG00000136937, GenAtlas:NCBP1, GeneCard:NCBP1, HGNC:HGNC:7658, HumanCyc Gene:HS06251, ModBase:Q09161, NCBI Gene:4686, OMIM:600469, RefSeq DNA:NT_008470, RefSeq Protein:NP_002477, RefSeq RNA:NM_002486, UCSC Genome Browser:NM_002486, UniProtKB:Q09161 No chr9 100395705 100436030 97633423 97673748 +PA31462 22916 HGNC:7659 ENSG00000114503 nuclear cap binding protein subunit 2 NCBP2 nuclear cap binding protein subunit 2, 20kDa CBP20, Cbc2, NIP1 Yes No Comparative Toxicogenomics Database:22916, Ensembl:ENSG00000114503, GenAtlas:NCBP2, GeneCard:NCBP2, HGNC:HGNC:7659, HumanCyc Gene:HS03775, ModBase:P52298, NCBI Gene:22916, OMIM:605133, RefSeq DNA:NT_029928, RefSeq Protein:NP_001036005, RefSeq Protein:NP_031388, RefSeq RNA:NM_001042540, RefSeq RNA:NM_007362, UCSC Genome Browser:NM_007362, UniProtKB:P52298 No chr3 196662273 196669464 196935402 196942594 +PA166181580 152217 HGNC:25121 ENSG00000270170 NCBP2 antisense 2 (head to head) NCBP2AS2 KRAS-interacting microprotein, NCBP2 antisense RNA 2 (head to head), hypoxia-induced angiogenesis regulator HIAR, KRASIM, NCBP2-AS2 Yes No Ensembl:ENSG00000270170, HGNC:HGNC:25121, NCBI Gene:152217 No 0 0 0 0 +PA134968208 392517 HGNC:31795 ENSG00000170935 nuclear cap binding protein subunit 2 like NCBP2L nuclear cap binding protein subunit 2-like Yes No Ensembl:ENSG00000170935, GeneCard:NCBP2L, HGNC:HGNC:31795, NCBI Gene:392517, RefSeq DNA:NG_011409, RefSeq DNA:NT_011651 No chrX 107037491 107037907 107794261 107794677 +PA145149545 55421 HGNC:24612 ENSG00000074356 nuclear cap binding subunit 3 NCBP3 ELG protein, chromosome 17 open reading frame 85 C17orf85, ELG, HSA277841 Yes No Ensembl:ENSG00000074356, GeneCard:C17orf85, HGNC:HGNC:24612, HumanCyc Gene:HS12226, NCBI Gene:55421, RefSeq DNA:NT_010718, RefSeq Protein:NP_001107590, RefSeq Protein:NP_061023, RefSeq RNA:NM_001114118, RefSeq RNA:NM_018553, UniProtKB:Q53F19 No chr17 3710042 3749545 3806748 3846251 +PA164723566 342897 HGNC:33739 ENSG00000188505 NCCRP1, F-box associated domain containing NCCRP1 non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) FBXO50, LOC342897, NCCRP-1 Yes No Ensembl:ENSG00000188505, GeneCard:NCCRP1, HGNC:HGNC:33739, ModBase:Q6ZVX7, NCBI Gene:342897, RefSeq DNA:NT_011109, RefSeq Protein:NP_001001414, RefSeq RNA:NM_001001414, UniProtKB:Q6ZVX7 No chr19 39687604 39692522 39196964 39201882 +PA134963729 23154 HGNC:17597 ENSG00000020129 neurochondrin NCDN norbin NCDN-1, NCDN-2 Yes No Ensembl:ENSG00000020129, GeneCard:NCDN, HGNC:HGNC:17597, HumanCyc Gene:HS12062, ModBase:Q9UBB6, NCBI Gene:23154, OMIM:608458, RefSeq DNA:NT_032977, RefSeq Protein:NP_001014839, RefSeq Protein:NP_001014841, RefSeq Protein:NP_055099, RefSeq RNA:NM_001014839, RefSeq RNA:NM_001014841, RefSeq RNA:NM_014284, UniProtKB:Q9UBB6 No chr1 36023311 36032380 35557792 35566779 +PA165697847 57552 HGNC:29260 ENSG00000144959 neutral cholesterol ester hydrolase 1 NCEH1 acetylalkylglycerol acetylhydrolase, alkylacetylglycerol acetylhydrolase AADACL1, KIAA1363, NCEH Yes No Comparative Toxicogenomics Database:57552, Ensembl:ENSG00000144959, GeneCard:NCEH1, HGNC:HGNC:29260, ModBase:Q6PIU2, NCBI Gene:57552, OMIM:613234, RefSeq DNA:NT_005612, RefSeq Protein:NP_001139748, RefSeq Protein:NP_001139749, RefSeq Protein:NP_001139750, RefSeq Protein:NP_065843, RefSeq RNA:NM_001146276, RefSeq RNA:NM_001146277, RefSeq RNA:NM_001146278, RefSeq RNA:NM_020792, UniProtKB:Q6PIU2 No chr3 172348435 172429207 172630645 172711218 +PA31463 653361 HGNC:7660 ENSG00000158517 neutrophil cytosolic factor 1 NCF1 """NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1""" NCF1A, NOXO2, SH3PXD1A, p47phox Yes No Ensembl:ENSG00000158517, GenAtlas:NCF1, GeneCard:NCF1, HGNC:HGNC:7660, ModBase:Q9BXI8, NCBI Gene:653361, OMIM:233700, OMIM:608512, RefSeq DNA:NG_009078, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_000256, RefSeq RNA:NM_000265, UCSC Genome Browser:NM_000265, UniProtKB:P14598 No chr7 74188309 74203720 74773962 74789376 +PA143485556 654816 HGNC:32522 ENSG00000182487 neutrophil cytosolic factor 1B pseudogene NCF1B SH3PXD1B Yes No Ensembl:ENSG00000182487, GeneCard:NCF1B, HGNC:HGNC:32522, NCBI Gene:654816, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq RNA:NR_003186 No chr7 72634674 72649979 73220639 73235945 +PA143485557 654817 HGNC:32523 ENSG00000165178 neutrophil cytosolic factor 1C pseudogene NCF1C SH3PXD1C Yes No Ensembl:ENSG00000165178, GeneCard:NCF1C, HGNC:HGNC:32523, NCBI Gene:654817, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq RNA:NR_003187 No chr7 74572384 74587802 75156578 75171998 +PA31464 4688 HGNC:7661 ENSG00000116701 neutrophil cytosolic factor 2 NCF2 """NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2""" NOXA2, p67phox Yes No Comparative Toxicogenomics Database:4688, Ensembl:ENSG00000116701, GenAtlas:NCF2, GeneCard:NCF2, HGNC:HGNC:7661, HumanCyc Gene:HS04036, ModBase:P19878, NCBI Gene:4688, OMIM:233710, OMIM:608515, RefSeq DNA:NG_007267, RefSeq DNA:NT_004487, RefSeq Protein:NP_000424, RefSeq Protein:NP_001121123, RefSeq Protein:NP_001177718, RefSeq Protein:NP_001177723, RefSeq RNA:NM_000433, RefSeq RNA:NM_001127651, RefSeq RNA:NM_001190789, RefSeq RNA:NM_001190794, UCSC Genome Browser:NM_000433, UniProtKB:P19878 No chr1 183524697 183560056 183555562 183590921 +PA31465 4689 HGNC:7662 ENSG00000100365 neutrophil cytosolic factor 4 NCF4 """neutrophil NADPH oxidase factor 4"", ""neutrophil cytosolic factor 4, 40kDa""" SH3PXD4, p40phox Yes Yes Comparative Toxicogenomics Database:4689, Ensembl:ENSG00000100365, GenAtlas:NCF4, GeneCard:NCF4, HGNC:HGNC:7662, HumanCyc Gene:HS02062, ModBase:Q15080, NCBI Gene:4689, OMIM:601488, RefSeq DNA:NG_023400, RefSeq DNA:NT_011520, RefSeq Protein:NP_000622, RefSeq Protein:NP_038202, RefSeq RNA:NM_000631, RefSeq RNA:NM_013416, UCSC Genome Browser:NM_000631, UniProtKB:A8K4F9, UniProtKB:Q15080 No chr22 37257030 37274059 36860988 36878017 +PA31466 4690 HGNC:7664 ENSG00000158092 NCK adaptor protein 1 NCK1 NCK, NCKalpha Yes No Comparative Toxicogenomics Database:4690, Ensembl:ENSG00000158092, GenAtlas:NCK1, GeneCard:NCK1, HGNC:HGNC:7664, HumanCyc Gene:HS08266, ModBase:P16333, NCBI Gene:4690, OMIM:600508, RefSeq DNA:NT_005612, RefSeq Protein:NP_001177725, RefSeq Protein:NP_006144, RefSeq RNA:NM_001190796, RefSeq RNA:NM_006153, UCSC Genome Browser:NM_006153, UniProtKB:P16333 No chr3 136581050 136670446 136862208 136951610 +PA31467 8440 HGNC:7665 ENSG00000071051 NCK adaptor protein 2 NCK2 NCKbeta Yes No Comparative Toxicogenomics Database:8440, Ensembl:ENSG00000071051, GenAtlas:NCK2, GeneCard:NCK2, HGNC:HGNC:7665, HumanCyc Gene:HS01022, ModBase:O43639, NCBI Gene:8440, OMIM:604930, RefSeq DNA:NT_022171, RefSeq Protein:NP_001004720, RefSeq Protein:NP_001004722, RefSeq Protein:NP_003572, RefSeq RNA:NM_001004720, RefSeq RNA:NM_001004722, RefSeq RNA:NM_003581, UCSC Genome Browser:NM_003581, UniProtKB:O43639 No chr2 106361520 106510730 105744649 105894274 +PA31468 10787 HGNC:7666 ENSG00000061676 NCK associated protein 1 NCKAP1 NCK-associated protein 1 HEM2, NAP125, Nap1 Yes No Comparative Toxicogenomics Database:10787, Ensembl:ENSG00000061676, GenAtlas:NCKAP1, GeneCard:NCKAP1, HGNC:HGNC:7666, HumanCyc Gene:HS00758, ModBase:Q9Y2A7, NCBI Gene:10787, OMIM:604891, RefSeq DNA:NT_005403, RefSeq Protein:NP_038464, RefSeq Protein:NP_995314, RefSeq RNA:NM_013436, RefSeq RNA:NM_205842, UCSC Genome Browser:NM_013436, UniProtKB:Q9Y2A7 No chr2 183789579 183903586 182924851 183038858 +PA29239 3071 HGNC:4862 ENSG00000123338 NCK associated protein 1 like NCKAP1L NCK-associated protein 1-like HEM1 Yes No Comparative Toxicogenomics Database:3071, Ensembl:ENSG00000123338, GenAtlas:NCKAP1L, GeneCard:NCKAP1L, HGNC:HGNC:4862, HumanCyc Gene:HS04647, ModBase:P55160, NCBI Gene:3071, OMIM:141180, RefSeq DNA:NT_029419, RefSeq Protein:NP_001171905, RefSeq Protein:NP_005328, RefSeq RNA:NM_001184976, RefSeq RNA:NM_005337, UCSC Genome Browser:NM_005337, UniProtKB:B4DUT5, UniProtKB:P55160 No chr12 54891495 54936899 54497711 54543115 +PA165696957 344148 HGNC:29847 ENSG00000176771 NCK associated protein 5 NCKAP5 NCK-associated protein 5, Nck associated protein 5, peripheral clock protein ERIH1, ERIH2, NAP5 Yes No Ensembl:ENSG00000176771, GeneCard:NCKAP5, HGNC:HGNC:29847, NCBI Gene:344148, OMIM:608789, RefSeq DNA:NT_022135, RefSeq Protein:NP_997246, RefSeq Protein:NP_997364, RefSeq RNA:NM_207363, RefSeq RNA:NM_207481, UniProtKB:O14513 No chr2 133429361 134399118 132671788 133675181 +PA165513124 57701 HGNC:29321 ENSG00000167566 NCK associated protein 5 like NCKAP5L NCK-associated protein 5-like KIAA1602 Yes No Ensembl:ENSG00000167566, GeneCard:NCKAP5L, HGNC:HGNC:29321, NCBI Gene:57701, RefSeq DNA:NT_029419, RefSeq Protein:NP_001032895, RefSeq Protein:NP_065992, RefSeq RNA:NM_001037806, RefSeq RNA:NM_020941, RefSeq RNA:XM_035497, RefSeq RNA:XM_937378, UniProtKB:Q9HCH0 No chr12 50184929 50222208 49791139 49828750 +PA134872724 51517 HGNC:15486 ENSG00000213672 NCK interacting protein with SH3 domain NCKIPSD """SH3 protein interacting with Nck, 90 kDa"", ""dia interacting protein"", ""diaphanous protein interacting protein""" AF3P21, DIP1, ORF1, SPIN90, WASLBP, WISH Yes No Ensembl:ENSG00000213672, GeneCard:NCKIPSD, HGNC:HGNC:15486, ModBase:Q9NZQ3, NCBI Gene:51517, OMIM:606671, RefSeq DNA:NT_022517, RefSeq Protein:NP_057537, RefSeq Protein:NP_909119, RefSeq RNA:NM_016453, RefSeq RNA:NM_184231, UniProtKB:Q9NZQ3 No chr3 48700419 48723366 48663814 48685941 +PA31469 4691 HGNC:7667 ENSG00000115053 nucleolin NCL C23, Nsr1 Yes No Comparative Toxicogenomics Database:4691, Ensembl:ENSG00000115053, GenAtlas:NCL, GeneCard:NCL, HGNC:HGNC:7667, HumanCyc Gene:HS03828, ModBase:P19338, NCBI Gene:4691, OMIM:164035, RefSeq DNA:NT_005403, RefSeq Protein:NP_005372, RefSeq Protein:XP_002342316, RefSeq RNA:NM_005381, RefSeq RNA:XM_002342275, UCSC Genome Browser:NM_005381, UniProtKB:B3KM80, UniProtKB:P19338 No chr2 232319459 232329208 231454748 231464494 +PA134898417 56926 HGNC:26923 ENSG00000125912 nicalin NCLN nicastrin-like protein NET59, NICALIN Yes No Comparative Toxicogenomics Database:56926, Ensembl:ENSG00000125912, GeneCard:NCLN, HGNC:HGNC:26923, HumanCyc Gene:HS13189, ModBase:Q9BTX4, NCBI Gene:56926, OMIM:609156, RefSeq DNA:NT_011255, RefSeq Protein:NP_064555, RefSeq RNA:NM_020170, UniProtKB:Q969V3 No chr19 3185875 3209573 3185877 3209575 +PA164723567 100302751 HGNC:35472 ENSG00000213212 nucleolin pseudogene 1 NCLP1 Yes No Ensembl:ENSG00000213212, HGNC:HGNC:35472, NCBI Gene:100302751 No chr9 139707240 139709928 136812788 136815476 +PA164723568 100379142 HGNC:35473 ENSG00000234228 nucleolin pseudogene 2 NCLP2 bA85L21.1 Yes No Ensembl:ENSG00000234228, HGNC:HGNC:35473, NCBI Gene:100379142 No chrX 134209166 134210627 135075136 135076597 +PA142672448 400746 HGNC:29332 ENSG00000184454 non-compact myelin associated protein NCMAP myelin protein of 11 kDa, noncompact myelin associated protein C1orf130, FLJ42528, MP11 Yes Yes Ensembl:ENSG00000184454, GeneCard:C1orf130, HGNC:HGNC:29332, NCBI Gene:400746, RefSeq DNA:NT_004610, RefSeq Protein:NP_001010980, RefSeq RNA:NM_001010980, UniProtKB:Q5T1S8 No chr1 24882567 24935819 24556076 24609328 +PA31470 8648 HGNC:7668 ENSG00000084676 nuclear receptor coactivator 1 NCOA1 F-SRC-1, KAT13A, NCoA-1, RIP160, SRC1, bHLHe74 Yes Yes Comparative Toxicogenomics Database:8648, Ensembl:ENSG00000084676, GenAtlas:NCOA1, GeneCard:NCOA1, HGNC:HGNC:7668, HumanCyc Gene:HS01476, ModBase:Q6GVI5, NCBI Gene:8648, OMIM:602691, RefSeq DNA:NT_022184, RefSeq Protein:NP_003734, RefSeq Protein:NP_671756, RefSeq Protein:NP_671766, RefSeq RNA:NM_003743, RefSeq RNA:NM_147223, RefSeq RNA:NM_147233, UCSC Genome Browser:NM_003743, UniProtKB:Q15788 No chr2 24714919 24993571 24492050 24770702 +PA31471 10499 HGNC:7669 ENSG00000140396 nuclear receptor coactivator 2 NCOA2 glucocorticoid receptor interacting protein 1 GRIP1, KAT13C, NCoA-2, TIF2, bHLHe75 Yes No Comparative Toxicogenomics Database:10499, Ensembl:ENSG00000140396, GenAtlas:NCOA2, GeneCard:NCOA2, HGNC:HGNC:7669, HumanCyc Gene:HS06711, ModBase:Q15596, NCBI Gene:10499, OMIM:601993, RefSeq DNA:NT_008183, RefSeq Protein:NP_006531, RefSeq RNA:NM_006540, UCSC Genome Browser:NM_006540, UniProtKB:Q15596 No chr8 71021997 71316062 70109762 70405390 +PA31472 8202 HGNC:7670 ENSG00000124151 nuclear receptor coactivator 3 NCOA3 receptor-associated coactivator 3, thyroid hormone receptor activator molecule 1 ACTR, AIB1, CAGH16, KAT13B, RAC3, SRC-3, SRC3, TNRC16, TRAM-1, bHLHe42, p/CIP Yes Yes Comparative Toxicogenomics Database:8202, Ensembl:ENSG00000124151, GenAtlas:NCOA3, GeneCard:NCOA3, HGNC:HGNC:7670, HumanCyc Gene:HS04721, ModBase:Q9Y6Q9, NCBI Gene:8202, OMIM:601937, RefSeq DNA:NG_016810, RefSeq DNA:NT_011362, RefSeq Protein:NP_001167558, RefSeq Protein:NP_001167559, RefSeq Protein:NP_006525, RefSeq Protein:NP_858045, RefSeq RNA:NM_001174087, RefSeq RNA:NM_001174088, RefSeq RNA:NM_006534, RefSeq RNA:NM_181659, UCSC Genome Browser:NM_006534, UniProtKB:Q59EE8, UniProtKB:Q9Y6Q9 No chr20 46130601 46285621 47501857 47656877 +PA31473 8031 HGNC:7671 ENSG00000266412 nuclear receptor coactivator 4 NCOA4 RET-activating gene ELE1 ARA70, DKFZp762E1112, ELE1, PTC3, RFG Yes No Comparative Toxicogenomics Database:8031, Ensembl:ENSG00000266412, GenAtlas:NCOA4, GeneCard:NCOA4, HGNC:HGNC:7671, HumanCyc Gene:HS06479, ModBase:Q13772, NCBI Gene:8031, OMIM:188550, OMIM:601984, RefSeq DNA:NG_023372, RefSeq DNA:NT_030059, RefSeq Protein:NP_001138732, RefSeq Protein:NP_001138733, RefSeq Protein:NP_001138734, RefSeq Protein:NP_001138735, RefSeq Protein:NP_005428, RefSeq RNA:NM_001145260, RefSeq RNA:NM_001145261, RefSeq RNA:NM_001145262, RefSeq RNA:NM_001145263, RefSeq RNA:NM_005437, UCSC Genome Browser:NM_005437, UniProtKB:A8K8W5, UniProtKB:B2R5V0, UniProtKB:B4E260, UniProtKB:Q13772, UniProtKB:Q96E88 No chr10 51565108 51590734 46005088 46030714 +PA134890575 326605 HGNC:20022 ENSG00000258629 nuclear receptor coactivator 4 pseudogene 1 NCOA4P1 Yes No Ensembl:ENSG00000258629, HGNC:HGNC:20022, NCBI Gene:326605, RefSeq DNA:NG_002594, RefSeq DNA:NT_026437 No chr14 66344751 66347785 65878033 65881067 +PA31474 57727 HGNC:15909 ENSG00000124160 nuclear receptor coactivator 5 NCOA5 coactivator independent of AF-2 CIA, bA465L10.6 Yes No Comparative Toxicogenomics Database:57727, Ensembl:ENSG00000124160, GenAtlas:NCOA5, GeneCard:NCOA5, HGNC:HGNC:15909, HumanCyc Gene:HS04724, ModBase:Q9HCD5, NCBI Gene:57727, RefSeq DNA:NT_011362, RefSeq Protein:NP_066018, RefSeq RNA:NM_020967, UCSC Genome Browser:NM_020967, UniProtKB:Q9HCD5 No chr20 44689624 44718580 46060985 46089962 +PA31475 23054 HGNC:15936 ENSG00000198646 nuclear receptor coactivator 6 NCOA6 activating signal cointegrator-2, nuclear receptor coactivator RAP250, peroxisome proliferator-activated receptor interacting protein AIB3, ASC2, KIAA0181, NRC, PRIP, RAP250, TRBP Yes No Comparative Toxicogenomics Database:23054, Ensembl:ENSG00000198646, GenAtlas:NCOA6, GeneCard:NCOA6, HGNC:HGNC:15936, ModBase:Q14686, NCBI Gene:23054, OMIM:605299, RefSeq DNA:NT_011362, RefSeq Protein:NP_001229468, RefSeq Protein:NP_054790, RefSeq RNA:NM_001242539, RefSeq RNA:NM_014071, UCSC Genome Browser:NM_014071, UniProtKB:Q14686 No chr20 33302578 33413433 34714774 34825649 +PA134905581 135112 HGNC:21081 ENSG00000111912 nuclear receptor coactivator 7 NCOA7 TBC/LysM-associated domain containing 4 ERAP140, TLDC4, dJ187J11.3 Yes Yes Comparative Toxicogenomics Database:135112, Ensembl:ENSG00000111912, GeneCard:NCOA7, HGNC:HGNC:21081, ModBase:Q8N1W4, NCBI Gene:135112, OMIM:609752, RefSeq DNA:NT_025741, RefSeq Protein:NP_001116314, RefSeq Protein:NP_001186548, RefSeq Protein:NP_001186549, RefSeq Protein:NP_001186550, RefSeq Protein:NP_001186551, RefSeq Protein:NP_861447, RefSeq RNA:NM_001122842, RefSeq RNA:NM_001199619, RefSeq RNA:NM_001199620, RefSeq RNA:NM_001199621, RefSeq RNA:NM_001199622, RefSeq RNA:NM_181782, UniProtKB:B3KXK4, UniProtKB:Q8N3C8, UniProtKB:Q8NI08 No chr6 126102307 126253176 125780948 125932030 +PA31477 9611 HGNC:7672 ENSG00000141027 nuclear receptor corepressor 1 NCOR1 """protein phosphatase 1, regulatory subunit 109"", ""thyroid hormone- and retinoic acid receptor-associated corepressor 1""" KIAA1047, MGC104216, N-CoR, PPP1R109, TRAC1, hCIT529I10, hN-CoR Yes No Comparative Toxicogenomics Database:9611, Ensembl:ENSG00000141027, GenAtlas:NCOR1, GeneCard:NCOR1, HGNC:HGNC:7672, HumanCyc Gene:HS06792, ModBase:O75376, NCBI Gene:9611, OMIM:600849, RefSeq DNA:NT_010718, RefSeq Protein:NP_001177367, RefSeq Protein:NP_001177369, RefSeq Protein:NP_006302, RefSeq RNA:NM_001190438, RefSeq RNA:NM_001190440, RefSeq RNA:NM_006311, UCSC Genome Browser:NM_006311, UniProtKB:O75376 No chr17 15933408 16118874 16030094 16216746 +PA25734 149934 HGNC:16724 ENSG00000240108 nuclear receptor corepressor 1 pseudogene 1 NCOR1P1 bB329D4.2 Yes No Ensembl:ENSG00000240108, GenAtlas:C20orf191, GeneCard:NCOR1P1, HGNC:HGNC:16724, NCBI Gene:149934, RefSeq DNA:NT_011387, RefSeq RNA:NR_003678 No chr20 26084052 26094677 26103416 26114041 +PA31478 9612 HGNC:7673 ENSG00000196498 nuclear receptor corepressor 2 NCOR2 """CTG repeat protein 26"", ""silencing mediator of retinoic acid and thyroid hormone receptor"", ""thyroid-, retinoic-acid-receptor-associated corepressor""" CTG26, SMRT, SMRTE, TNRC14, TRAC-1 Yes No Comparative Toxicogenomics Database:9612, Ensembl:ENSG00000196498, GenAtlas:NCOR2, GeneCard:NCOR2, HGNC:HGNC:7673, NCBI Gene:9612, OMIM:600848, RefSeq DNA:NG_022928, RefSeq DNA:NT_009755, RefSeq Protein:NP_001070729, RefSeq Protein:NP_001193583, RefSeq Protein:NP_006303, RefSeq RNA:NM_001077261, RefSeq RNA:NM_001206654, RefSeq RNA:NM_006312, UCSC Genome Browser:NM_006312, UniProtKB:Q9Y618 No chr12 124808957 125052079 124324411 124567464 +PA30495 9437 HGNC:6731 ENSG00000189430 natural cytotoxicity triggering receptor 1 NCR1 CD335, LY94, NK-p46, NKP46 Yes No Comparative Toxicogenomics Database:9437, Ensembl:ENSG00000189430, GeneCard:NCR1, HGNC:HGNC:6731, HumanCyc Gene:HS08500, ModBase:O76036, NCBI Gene:9437, OMIM:604530, RefSeq DNA:NT_011109, RefSeq Protein:NP_001138929, RefSeq Protein:NP_001138930, RefSeq Protein:NP_001229285, RefSeq Protein:NP_001229286, RefSeq Protein:NP_004820, RefSeq RNA:NM_001145457, RefSeq RNA:NM_001145458, RefSeq RNA:NM_001242356, RefSeq RNA:NM_001242357, RefSeq RNA:NM_004829, RefSeq RNA:NR_027041, RefSeq RNA:NR_027043, UCSC Genome Browser:NM_004829, UniProtKB:B0V3L0, UniProtKB:B0V3L5, UniProtKB:O76036 No chr19 55417504 55424454 54906042 54938211 +PA30496 9436 HGNC:6732 ENSG00000096264 natural cytotoxicity triggering receptor 2 NCR2 CD336, LY95, NK-p44 Yes No Ensembl:ENSG00000096264, GeneCard:NCR2, HGNC:HGNC:6732, HumanCyc Gene:HS01858, ModBase:O95944, NCBI Gene:9436, OMIM:604531, RefSeq DNA:NT_007592, RefSeq Protein:NP_001186438, RefSeq Protein:NP_001186439, RefSeq Protein:NP_004819, RefSeq RNA:NM_001199509, RefSeq RNA:NM_001199510, RefSeq RNA:NM_004828, UCSC Genome Browser:NM_004828, UniProtKB:O95944 No chr6 41303528 41318625 41335620 41350887 +PA134883693 259197 HGNC:19077 ENSG00000204475, ENSG00000206430, ENSG00000223833, ENSG00000225211, ENSG00000236315, ENSG00000236979, ENSG00000237103, ENSG00000237808 natural cytotoxicity triggering receptor 3 NCR3 1C7, CD337, LY117, NKp30 Yes Yes Comparative Toxicogenomics Database:259197, Ensembl:ENSG00000204475, Ensembl:ENSG00000206430, Ensembl:ENSG00000223833, Ensembl:ENSG00000225211, Ensembl:ENSG00000236315, Ensembl:ENSG00000236979, Ensembl:ENSG00000237103, Ensembl:ENSG00000237808, GeneCard:NCR3, HGNC:HGNC:19077, HumanCyc Gene:HS01853, ModBase:Q5ST91, NCBI Gene:259197, OMIM:609148, OMIM:611550, RefSeq DNA:NG_021176, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001138938, RefSeq Protein:NP_001138939, RefSeq Protein:NP_667341, RefSeq RNA:NM_001145466, RefSeq RNA:NM_001145467, RefSeq RNA:NM_147130, UniProtKB:O14931, UniProtKB:Q05D23 No chr6 31556660 31560762 31588883 31593024 +PA166049084 374383 HGNC:42400 ENSG00000188211 natural killer cell cytotoxicity receptor 3 ligand 1 NCR3LG1 B7 homolog 6 B7-H6, DKFZp686O24166 Yes No Ensembl:ENSG00000188211, HGNC:HGNC:42400, NCBI Gene:374383 No chr11 17373279 17398868 17351762 17377321 +PA165660389 100302746 HGNC:37153 non-protein coding RNA, upstream of F2R/PAR1 NCRUPAR non-protein coding RNA 193, noncoding RNA upstream of the PAR-1 NCRNA00193, ncR-uPAR Yes No GeneCard:NCRUPAR, HGNC:HGNC:37153, NCBI Gene:100302746, RefSeq RNA:NR_028375 No chr5 76008228 76008713 76712403 76712888 +PA28371 23413 HGNC:3953 ENSG00000107130 neuronal calcium sensor 1 NCS1 FREQ, NCS-1 Yes No Comparative Toxicogenomics Database:23413, Ensembl:ENSG00000107130, GenAtlas:FREQ, GeneCard:FREQ, GeneCard:NCS1, HGNC:HGNC:3953, HumanCyc Gene:HS02971, ModBase:P62166, NCBI Gene:23413, OMIM:603315, RefSeq DNA:NT_008470, RefSeq Protein:NP_001122298, RefSeq Protein:NP_055101, RefSeq RNA:NM_001128826, RefSeq RNA:NM_014286, UCSC Genome Browser:NM_014286, UniProtKB:P62166 No chr9 132934857 132999583 130172578 130237304 +PA142671271 23385 HGNC:17091 ENSG00000162736 nicastrin NCSTN APH2, KIAA0253 Yes No Ensembl:ENSG00000162736, GeneCard:NCSTN, HGNC:HGNC:17091, HumanCyc Gene:HS08732, ModBase:Q92542, NCBI Gene:23385, OMIM:605254, RefSeq DNA:NT_004487, RefSeq Protein:NP_056146, RefSeq RNA:NM_015331, UniProtKB:Q5T208, UniProtKB:Q92542 No chr1 160313063 160328742 160343056 160358952 +PA142670764 55706 HGNC:25525 ENSG00000058804 NDC1 transmembrane nucleoporin NDC1 nuclear division cycle 1 homolog (S. cerevisiae), transmembrane protein 48 FLJ10407, NET3, TMEM48 Yes No Comparative Toxicogenomics Database:55706, Ensembl:ENSG00000058804, GeneCard:TMEM48, HGNC:HGNC:25525, HumanCyc Gene:HS12150, NCBI Gene:55706, OMIM:610115, RefSeq DNA:NT_032977, RefSeq Protein:NP_001162023, RefSeq Protein:NP_060557, RefSeq RNA:NM_001168551, RefSeq RNA:NM_018087, RefSeq RNA:NR_033142, UniProtKB:Q9BTX1 No chr1 54231133 54304225 53765460 53838552 +PA162397359 10403 HGNC:16909 ENSG00000080986 NDC80 kinetochore complex component NDC80 """NDC80 kinetochore complex component"", ""NDC80, kinetochore complex component""" HEC, HEC1, KNTC2, TID3, hsNDC80 Yes No Ensembl:ENSG00000080986, GeneCard:NDC80, HGNC:HGNC:16909, HumanCyc Gene:HS01377, ModBase:O14777, NCBI Gene:10403, OMIM:607272, RefSeq DNA:NT_010859, RefSeq Protein:NP_006092, RefSeq RNA:NM_006101, UniProtKB:A8K031, UniProtKB:O14777 No chr18 2571510 2616634 2571511 2616635 +PA128394673 54820 HGNC:17619 ENSG00000072864 nudE neurodevelopment protein 1 NDE1 nudE nuclear distribution E homolog 1 (A. nidulans) FLJ20101, NDE, NUDE, nudE Yes No Comparative Toxicogenomics Database:54820, Ensembl:ENSG00000072864, GeneCard:NDE1, HGNC:HGNC:17619, HumanCyc Gene:HS12220, NCBI Gene:54820, OMIM:609449, RefSeq DNA:NG_021210, RefSeq DNA:NT_010393, RefSeq Protein:NP_001137451, RefSeq Protein:NP_060138, RefSeq RNA:NM_001143979, RefSeq RNA:NM_017668, UCSC Genome Browser:NM_017668, UniProtKB:Q9NXR1 No chr16 15737124 15820210 15643267 15726353 +PA134887314 81565 HGNC:17620 ENSG00000166579 nudE neurodevelopment protein 1 like 1 NDEL1 nudE neurodevelopment protein 1-like 1, nudE nuclear distribution E homolog (A. nidulans)-like 1 MITAP1, NDE1L1, NDE2, NUDEL Yes No Comparative Toxicogenomics Database:81565, Ensembl:ENSG00000166579, GeneCard:NDEL1, HGNC:HGNC:17620, HumanCyc Gene:HS15462, ModBase:Q9GZM8, NCBI Gene:81565, OMIM:607538, RefSeq DNA:NT_010718, RefSeq Protein:NP_001020750, RefSeq Protein:NP_110435, RefSeq RNA:NM_001025579, RefSeq RNA:NM_030808, UniProtKB:A6NIZ0, UniProtKB:Q9GZM8 No chr17 8316447 8371495 8435852 8472744 +PA134943402 80762 HGNC:17592 ENSG00000131507 Nedd4 family interacting protein 1 NDFIP1 MGC10924, N4WBP5 Yes No Comparative Toxicogenomics Database:80762, Ensembl:ENSG00000131507, GeneCard:NDFIP1, HGNC:HGNC:17592, HumanCyc Gene:HS13385, ModBase:Q9BT67, NCBI Gene:80762, OMIM:612050, RefSeq DNA:NT_029289, RefSeq Protein:NP_085048, RefSeq RNA:NM_030571, UniProtKB:Q9BT67 No chr5 141488324 141534008 142108759 142154443 +PA134953250 54602 HGNC:18537 ENSG00000102471 Nedd4 family interacting protein 2 NDFIP2 KIAA1165, N4wbp5a Yes No Comparative Toxicogenomics Database:54602, Ensembl:ENSG00000102471, GeneCard:NDFIP2, HGNC:HGNC:18537, NCBI Gene:54602, OMIM:610041, RefSeq DNA:NT_024524, RefSeq Protein:NP_001154879, RefSeq Protein:NP_061953, RefSeq RNA:NM_001161407, RefSeq RNA:NM_019080, UniProtKB:B4DGY6, UniProtKB:Q9NV92 No chr13 80055259 80130212 79480722 79556077 +PA31479 4692 HGNC:7675 ENSG00000182636 necdin, MAGE family member NDN """Prader-Willi syndrome chromosome region"", ""necdin, melanoma antigen (MAGE) family member""" HsT16328, PWCR Yes No Comparative Toxicogenomics Database:4692, Ensembl:ENSG00000182636, GenAtlas:NDN, GeneCard:NDN, HGNC:HGNC:7675, ModBase:Q99608, NCBI Gene:4692, OMIM:176270, OMIM:602117, RefSeq DNA:NG_009380, RefSeq DNA:NT_026446, RefSeq Protein:NP_002478, RefSeq RNA:NM_002487, UCSC Genome Browser:NM_002487, UniProtKB:Q99608 No chr15 23930554 23932450 23685407 23687303 +PA147358639 79625 HGNC:26256 ENSG00000173376 neuron derived neurotrophic factor NDNF neuron-derived neurotrophic factor C4orf31, FLJ23191 Yes No Comparative Toxicogenomics Database:79625, Ensembl:ENSG00000173376, GeneCard:C4orf31, HGNC:HGNC:26256, HumanCyc Gene:HS16203, ModBase:Q8TB73, NCBI Gene:79625, RefSeq DNA:NT_016354, RefSeq Protein:NP_078850, RefSeq RNA:NM_024574, UniProtKB:Q8TB73 No chr4 121956782 121993673 121035627 121072518 +PA134885020 27158 HGNC:29838 ENSG00000188566 NADPH dependent diflavin oxidoreductase 1 NDOR1 NADPH dependent FMN and FAD containing oxidoreductase, novel reductase 1 CIAE1, NR1, bA350O14.9 Yes No Ensembl:ENSG00000188566, GeneCard:NDOR1, HGNC:HGNC:29838, ModBase:Q9UHB4, NCBI Gene:27158, OMIM:606073, RefSeq DNA:NT_024000, RefSeq Protein:NP_001137498, RefSeq Protein:NP_001137499, RefSeq Protein:NP_001137500, RefSeq Protein:NP_055249, RefSeq RNA:NM_001144026, RefSeq RNA:NM_001144027, RefSeq RNA:NM_001144028, RefSeq RNA:NM_014434, UniProtKB:D3YTG6, UniProtKB:D3YTH9, UniProtKB:Q9UHB4 No chr9 140100119 140113813 137205667 137219361 +PA31481 4693 HGNC:7678 ENSG00000124479 norrin cystine knot growth factor NDP NDP """NDP, norrin cystine knot growth factor"", ""Norrie disease (pseudoglioma)""" EVR2, norrin Yes No Comparative Toxicogenomics Database:4693, Ensembl:ENSG00000124479, GenAtlas:NDP, GeneCard:NDP, HGNC:HGNC:7678, HumanCyc Gene:HS04775, ModBase:Q00604, NCBI Gene:4693, OMIM:300658, OMIM:305390, OMIM:310600, RefSeq DNA:NG_009832, RefSeq DNA:NT_079573, RefSeq Protein:NP_000257, RefSeq RNA:NM_000266, UCSC Genome Browser:NM_000266, UniProtKB:Q00604 No chrX 43808022 43832921 43948776 43973675 +PA31482 10397 HGNC:7679 ENSG00000104419 N-myc downstream regulated 1 NDRG1 CAP43, DRG1, NDR1, RTP, TDD5 Yes Yes Comparative Toxicogenomics Database:10397, Ensembl:ENSG00000104419, GenAtlas:NDRG1, GeneCard:NDRG1, HGNC:HGNC:7679, HumanCyc Gene:HS02581, ModBase:Q92597, NCBI Gene:10397, OMIM:601455, OMIM:605262, RefSeq DNA:NG_007943, RefSeq DNA:NT_008046, RefSeq Protein:NP_001128714, RefSeq Protein:NP_006087, RefSeq RNA:NM_001135242, RefSeq RNA:NM_006096, UCSC Genome Browser:NM_006096, UniProtKB:Q92597 No chr8 134249414 134309835 133237171 133297587 +PA31483 57447 HGNC:14460 ENSG00000165795 NDRG family member 2 NDRG2 KIAA1248, SYLD Yes No Comparative Toxicogenomics Database:57447, Ensembl:ENSG00000165795, GenAtlas:NDRG2, GeneCard:NDRG2, HGNC:HGNC:14460, HumanCyc Gene:HS09285, ModBase:Q96PN0, NCBI Gene:57447, OMIM:605272, RefSeq DNA:NT_026437, RefSeq Protein:NP_057334, RefSeq Protein:NP_963293, RefSeq Protein:NP_963294, RefSeq Protein:NP_963831, RefSeq Protein:NP_963832, RefSeq Protein:NP_963833, RefSeq Protein:NP_963834, RefSeq Protein:NP_963835, RefSeq RNA:NM_016250, RefSeq RNA:NM_201535, RefSeq RNA:NM_201536, RefSeq RNA:NM_201537, RefSeq RNA:NM_201538, RefSeq RNA:NM_201539, RefSeq RNA:NM_201540, RefSeq RNA:NM_201541, UCSC Genome Browser:NM_016250, UniProtKB:Q9UN36 No chr14 21484922 21539098 21016763 21070872 +PA31484 57446 HGNC:14462 ENSG00000101079 NDRG family member 3 NDRG3 Yes No Comparative Toxicogenomics Database:57446, Ensembl:ENSG00000101079, GenAtlas:NDRG3, GeneCard:NDRG3, HGNC:HGNC:14462, HumanCyc Gene:HS02189, ModBase:Q9UGV2, NCBI Gene:57446, OMIM:605273, RefSeq DNA:NT_011362, RefSeq Protein:NP_071922, RefSeq Protein:NP_114402, RefSeq RNA:NM_022477, RefSeq RNA:NM_032013, RefSeq RNA:NR_038370, UCSC Genome Browser:NM_022477, UniProtKB:Q9UGV2 No chr20 35280169 35374541 36651766 36746138 +PA31485 65009 HGNC:14466 ENSG00000103034 NDRG family member 4 NDRG4 KIAA1180, SMAP-8 Yes No Comparative Toxicogenomics Database:65009, Ensembl:ENSG00000103034, GenAtlas:NDRG4, GeneCard:NDRG4, HGNC:HGNC:14466, HumanCyc Gene:HS02443, ModBase:Q9ULP0, NCBI Gene:65009, RefSeq DNA:NT_010498, RefSeq Protein:NP_001123959, RefSeq Protein:NP_001229762, RefSeq Protein:NP_001229763, RefSeq Protein:NP_001229764, RefSeq Protein:NP_001229765, RefSeq Protein:NP_065198, RefSeq Protein:NP_075061, RefSeq RNA:NM_001130487, RefSeq RNA:NM_001242833, RefSeq RNA:NM_001242834, RefSeq RNA:NM_001242835, RefSeq RNA:NM_001242836, RefSeq RNA:NM_020465, RefSeq RNA:NM_022910, RefSeq RNA:NR_040072, UCSC Genome Browser:NM_020465, UniProtKB:Q9ULP0 No chr16 58497549 58547523 58463645 58515403 +PA31486 3340 HGNC:7680 ENSG00000070614 N-deacetylase and N-sulfotransferase 1 NDST1 N-Deacetylase-N-sulfotransferase 1, N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1, [Heparan sulfate]-glucosamine N-sulfotransferase 1, heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1 HSST, NST1 Yes No Comparative Toxicogenomics Database:3340, Ensembl:ENSG00000070614, GenAtlas:NDST1, GeneCard:NDST1, HGNC:HGNC:7680, HumanCyc Gene:HS01001, ModBase:P52848, NCBI Gene:3340, OMIM:600853, RefSeq DNA:NT_029289, RefSeq Protein:NP_001534, RefSeq RNA:NM_001543, UCSC Genome Browser:NM_001543, UniProtKB:A8K8T3, UniProtKB:P52848 No chr5 149865365 149937773 150485783 150558211 +PA31487 8509 HGNC:7681 ENSG00000166507 N-deacetylase and N-sulfotransferase 2 NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 HSST2, NST2 Yes No Ensembl:ENSG00000166507, GenAtlas:NDST2, GeneCard:NDST2, HGNC:HGNC:7681, HumanCyc Gene:HS09410, ModBase:P52849, NCBI Gene:8509, OMIM:603268, RefSeq DNA:NT_030059, RefSeq Protein:NP_003626, RefSeq RNA:NM_003635, UCSC Genome Browser:NM_003635, UniProtKB:B4E139, UniProtKB:P52849 No chr10 75561669 75571589 73801911 73811831 +PA31488 9348 HGNC:7682 ENSG00000164100 N-deacetylase and N-sulfotransferase 3 NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 HSST3 Yes No Ensembl:ENSG00000164100, GenAtlas:NDST3, GeneCard:NDST3, HGNC:HGNC:7682, HumanCyc Gene:HS09011, ModBase:O95803, NCBI Gene:9348, OMIM:603950, RefSeq DNA:NT_016354, RefSeq Protein:NP_004775, RefSeq RNA:NM_004784, UCSC Genome Browser:NM_004784, UniProtKB:O95803 No chr4 118955500 119179789 118033596 118258945 +PA134875549 64579 HGNC:20779 ENSG00000138653 N-deacetylase and N-sulfotransferase 4 NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 Yes No Ensembl:ENSG00000138653, GeneCard:NDST4, HGNC:HGNC:20779, HumanCyc Gene:HS06527, ModBase:Q9H3R1, NCBI Gene:64579, RefSeq DNA:NT_016354, RefSeq Protein:NP_072091, RefSeq RNA:NM_022569, UniProtKB:Q9H3R1 No chr4 115748931 116035032 114824122 115114098 +PA31489 4694 HGNC:7683 ENSG00000125356 NADH:ubiquinone oxidoreductase subunit A1 NDUFA1 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa"", ""NADH:ubiquinone oxidoreductase (complex 1)"", ""complex I MWFE subunit"", ""type I dehydrogenase""" CI-MWFE, MWFE Yes No Comparative Toxicogenomics Database:4694, Ensembl:ENSG00000125356, GenAtlas:NDUFA1, GeneCard:NDUFA1, HGNC:HGNC:7683, HumanCyc Gene:HS04875, NCBI Gene:4694, OMIM:252010, OMIM:300078, RefSeq DNA:NG_009381, RefSeq DNA:NT_011786, RefSeq Protein:NP_004532, RefSeq RNA:NM_004541, UCSC Genome Browser:NM_004541, UniProtKB:O15239, UniProtKB:Q6IBB5 No chrX 119005734 119010629 119871771 119876666 +PA31490 4705 HGNC:7684 ENSG00000130414 NADH:ubiquinone oxidoreductase subunit A10 NDUFA10 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa"", ""complex I 42kDa subunit""" CI-42k Yes No Comparative Toxicogenomics Database:4705, Ensembl:ENSG00000130414, GenAtlas:NDUFA10, GeneCard:NDUFA10, HGNC:HGNC:7684, HumanCyc Gene:HS05385, ModBase:O95299, NCBI Gene:4705, OMIM:603835, RefSeq DNA:NT_005416, RefSeq Protein:NP_004535, RefSeq RNA:NM_004544, UCSC Genome Browser:NM_004544, UniProtKB:O95299 No chr2 240896789 240964819 239892450 240025402 +PA134914606 126328 HGNC:20371 ENSG00000174886 NADH:ubiquinone oxidoreductase subunit A11 NDUFA11 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa"", ""complex I B14.7 subunit""" B14.7 Yes No Ensembl:ENSG00000174886, GeneCard:NDUFA11, HGNC:HGNC:20371, HumanCyc Gene:HS11922, NCBI Gene:126328, OMIM:252010, OMIM:612638, RefSeq DNA:NT_011255, RefSeq Protein:NP_001180304, RefSeq Protein:NP_783313, RefSeq RNA:NM_001193375, RefSeq RNA:NM_175614, RefSeq RNA:NR_034166, UniProtKB:Q86Y39 No chr19 5891287 5904024 5891276 5904013 +PA142671269 55967 HGNC:23987 ENSG00000184752 NADH:ubiquinone oxidoreductase subunit A12 NDUFA12 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12"", ""complex I B17.2 subunit""" B17.2, DAP13 Yes No Ensembl:ENSG00000184752, GeneCard:NDUFA12, HGNC:HGNC:23987, HumanCyc Gene:HS03370, ModBase:Q9UI09, NCBI Gene:55967, RefSeq DNA:NT_029419, RefSeq Protein:NP_061326, RefSeq RNA:NM_018838, UniProtKB:Q9UI09 No chr12 95365104 95397489 94971328 95003713 +PA142671270 51079 HGNC:17194 ENSG00000186010 NADH:ubiquinone oxidoreductase subunit A13 NDUFA13 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13"", ""complex I B16.6 subunit""" B16.6, CDA016, CGI-39, GRIM-19, GRIM19 Yes No Comparative Toxicogenomics Database:51079, Ensembl:ENSG00000186010, GeneCard:NDUFA13, HGNC:HGNC:17194, HumanCyc Gene:HS05364, NCBI Gene:51079, OMIM:607464, OMIM:609435, RefSeq DNA:NG_013380, RefSeq DNA:NT_011295, RefSeq Protein:NP_057049, RefSeq RNA:NM_015965, UniProtKB:Q9P0J0 No chr19 19626550 19639858 19516210 19528204 +PA31491 4695 HGNC:7685 ENSG00000131495 NADH:ubiquinone oxidoreductase subunit A2 NDUFA2 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa"", ""complex I B8 subunit""" B8 Yes No Comparative Toxicogenomics Database:4695, Ensembl:ENSG00000131495, GenAtlas:NDUFA2, GeneCard:NDUFA2, HGNC:HGNC:7685, HumanCyc Gene:HS05539, NCBI Gene:4695, OMIM:256000, OMIM:602137, RefSeq DNA:NG_021417, RefSeq DNA:NT_029289, RefSeq Protein:NP_001171941, RefSeq Protein:NP_002479, RefSeq RNA:NM_001185012, RefSeq RNA:NM_002488, RefSeq RNA:NR_033697, UCSC Genome Browser:NM_002488, UniProtKB:D6RJD6, UniProtKB:O43678 No chr5 140024948 140027370 140645363 140647785 +PA31492 4696 HGNC:7686 ENSG00000170906 NADH:ubiquinone oxidoreductase subunit A3 NDUFA3 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa"", ""complex I B9 subunit""" B9 Yes No Ensembl:ENSG00000170906, GenAtlas:NDUFA3, GeneCard:NDUFA3, HGNC:HGNC:7686, HumanCyc Gene:HS10204, NCBI Gene:4696, OMIM:603832, RefSeq DNA:NT_011109, RefSeq Protein:NP_004533, RefSeq RNA:NM_004542, UCSC Genome Browser:NM_004542, UniProtKB:O95167, UniProtKB:Q6FGG4 No chr19 54606160 54610281 54102338 54106974 +PA31493 4697 HGNC:7687 ENSG00000189043 NDUFA4 mitochondrial complex associated NDUFA4 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"", ""NADH-ubiquinone oxidoreductase MLRQ subunit"", ""NDUFA4, mitochondrial complex associated"", ""complex I 9kDa subunit"", ""cytochrome c oxidase subunit FA4"", ""mitochondrial respiratory chain associated factor 1"", ""mitochondrial stress response 1""" CI-9k, COXFA4, MISTR1, MLRQ, MRCAF1 Yes No Comparative Toxicogenomics Database:4697, Ensembl:ENSG00000189043, GenAtlas:NDUFA4, GeneCard:NDUFA4, HGNC:HGNC:7687, HumanCyc Gene:HS08711, NCBI Gene:4697, OMIM:603833, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002480, RefSeq RNA:NM_002489, UCSC Genome Browser:NM_002489, UniProtKB:O00483 No chr7 10971580 10979813 10931953 10940186 +PA144596402 56901 HGNC:29836 ENSG00000185633 NDUFA4 mitochondrial complex associated like 2 NDUFA4L2 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2"", ""NADH-ubiquinone oxidoreductase MLRQ subunit homolog"", ""NDUFA4, mitochondrial complex associated like 2"", ""cytochrome c oxidase subunit FA4 like 2"", ""mitochondrial stress response hypoxia""" COXFA4L2, FLJ26118, MISTRH, NUOMS Yes No Ensembl:ENSG00000185633, GeneCard:NDUFA4L2, HGNC:HGNC:29836, ModBase:Q9NRX3, NCBI Gene:56901, RefSeq DNA:NT_029419, RefSeq Protein:NP_064527, RefSeq RNA:NM_020142, UniProtKB:Q9NRX3 No chr12 57628686 57634545 57234903 57240762 +PA144596403 360165 HGNC:29835 ENSG00000224550 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 1 NDUFA4P1 Yes No Ensembl:ENSG00000224550, GeneCard:NDUFA4P1, HGNC:HGNC:29835, NCBI Gene:360165, RefSeq DNA:NG_002998, RefSeq DNA:NT_032977 No chr1 108047750 108048250 107505128 107505628 +PA31494 4698 HGNC:7688 ENSG00000128609 NADH:ubiquinone oxidoreductase subunit A5 NDUFA5 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"", ""NADH-ubiquinone oxidoreductase 13 kDa-B subunit"", ""complex I 13kDa subunit B"", ""type I dehydrogenase"", ""ubiquinone reductase""" B13, CI-13KD-B, CI-13kB, NUFM, UQOR13 Yes No Comparative Toxicogenomics Database:4698, Ensembl:ENSG00000128609, GenAtlas:NDUFA5, GeneCard:NDUFA5, HGNC:HGNC:7688, HumanCyc Gene:HS05206, NCBI Gene:4698, OMIM:601677, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_004991, RefSeq RNA:NM_005000, UCSC Genome Browser:NM_005000, UniProtKB:Q16718 No chr7 123181083 123197958 123536997 123601651 +PA31495 4699 HGNC:7689 ENSG00000232390 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, pseudogene 1 NDUFA5P1 Yes No Ensembl:ENSG00000232390, GenAtlas:NDUFA5P1, GeneCard:NDUFA5P1, HGNC:HGNC:7689, NCBI Gene:4699 No chr11 3343099 3344020 3321869 3322790 +PA31496 4700 HGNC:7690 ENSG00000184983 NADH:ubiquinone oxidoreductase subunit A6 NDUFA6 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa"", ""complex I B14 subunit""" B14, CI-B14, LYRM6, NADHB14 Yes No Comparative Toxicogenomics Database:4700, Ensembl:ENSG00000184983, GenAtlas:NDUFA6, GeneCard:NDUFA6, HGNC:HGNC:7690, HumanCyc Gene:HS00037, NCBI Gene:4700, OMIM:602138, RefSeq DNA:NT_011520, RefSeq Protein:NP_002481, RefSeq RNA:NM_002490, UCSC Genome Browser:NM_002490, UniProtKB:P56556 No chr22 42481530 42486888 42085526 42090884 +PA31497 4701 HGNC:7691 ENSG00000267855 NADH:ubiquinone oxidoreductase subunit A7 NDUFA7 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa"", ""complex I B14.5a subunit""" B14.5a Yes No Ensembl:ENSG00000267855, GenAtlas:NDUFA7, GeneCard:NDUFA7, HGNC:HGNC:7691, HumanCyc Gene:HS09632, NCBI Gene:4701, OMIM:602139, RefSeq DNA:NT_077812, RefSeq Protein:NP_004992, RefSeq RNA:NM_005001, UCSC Genome Browser:NM_005001, UniProtKB:O95182 No chr19 8373492 8386452 8308603 8321413 +PA31498 4702 HGNC:7692 ENSG00000119421 NADH:ubiquinone oxidoreductase subunit A8 NDUFA8 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa"", ""complex I PGIV subunit""" MGC793, PGIV Yes No Comparative Toxicogenomics Database:4702, Ensembl:ENSG00000119421, GenAtlas:NDUFA8, GeneCard:NDUFA8, HGNC:HGNC:7692, HumanCyc Gene:HS04297, NCBI Gene:4702, OMIM:603359, RefSeq DNA:NT_008470, RefSeq Protein:NP_055037, RefSeq RNA:NM_014222, UCSC Genome Browser:NM_014222, UniProtKB:B1AM93, UniProtKB:P51970 No chr9 124894745 124922098 122132466 122159819 +PA31499 4704 HGNC:7693 ENSG00000139180 NADH:ubiquinone oxidoreductase subunit A9 NDUFA9 """NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa"", ""complex I 39kDa subunit"", ""short chain dehydrogenase/reductase family 22E, member 1""" CI-39k, COQ11, NDUFS2L, SDR22E1 Yes No Comparative Toxicogenomics Database:4704, Ensembl:ENSG00000139180, GenAtlas:NDUFA9, GeneCard:NDUFA9, HGNC:HGNC:7693, HumanCyc Gene:HS06589, ModBase:Q16795, NCBI Gene:4704, OMIM:603834, RefSeq DNA:NT_009759, RefSeq Protein:NP_004993, RefSeq RNA:NM_005002, UCSC Genome Browser:NM_005002, UniProtKB:Q16795 No chr12 4758264 4796720 4649098 4687554 +PA134895794 266625 HGNC:19252 ENSG00000237406 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 NDUFA9P1 dJ106I20.2 Yes No Ensembl:ENSG00000237406, GeneCard:NDUFA9P1, HGNC:HGNC:19252, NCBI Gene:266625, RefSeq DNA:NG_002366, RefSeq DNA:NT_011520 No chr22 36293180 36294467 35897132 35898419 +PA31500 4706 HGNC:7694 ENSG00000004779 NADH:ubiquinone oxidoreductase subunit AB1 NDUFAB1 """NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa"", ""acyl carrier protein, mitochondrial"", ""complex I SDAP subunit""" ACP, ACP1, FASN2A, SDAP Yes No Comparative Toxicogenomics Database:4706, Ensembl:ENSG00000004779, GenAtlas:NDUFAB1, GeneCard:NDUFAB1, HGNC:HGNC:7694, HumanCyc Gene:HS00112, ModBase:O14561, NCBI Gene:4706, OMIM:603836, RefSeq DNA:NT_010393, RefSeq Protein:NP_004994, RefSeq RNA:NM_005003, UCSC Genome Browser:NM_005003, UniProtKB:O14561 No chr16 23592335 23607639 23581012 23596329 +PA134934729 51103 HGNC:18828 ENSG00000137806 NADH:ubiquinone oxidoreductase complex assembly factor 1 NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 CGI-65, CIA30 Yes No Comparative Toxicogenomics Database:51103, Ensembl:ENSG00000137806, GeneCard:NDUFAF1, HGNC:HGNC:18828, HumanCyc Gene:HS06398, ModBase:Q9Y375, NCBI Gene:51103, OMIM:606934, RefSeq DNA:NT_010194, RefSeq Protein:NP_057097, RefSeq RNA:NM_016013, UniProtKB:Q9Y375 No chr15 41679547 41694658 41387349 41402694 +PA162397398 91942 HGNC:28086 ENSG00000164182 NADH:ubiquinone oxidoreductase complex assembly factor 2 NDUFAF2 """Myc-induced mitochondrial protein"", ""NADH dehydrogenase (ubiquinone) complex I, assembly factor 2""" B17.2L, MMTN, NDUFA12L, mimitin Yes No Ensembl:ENSG00000164182, GeneCard:NDUFAF2, HGNC:HGNC:28086, NCBI Gene:91942, OMIM:252010, OMIM:609653, RefSeq DNA:NG_008978, RefSeq DNA:NT_006713, RefSeq Protein:NP_777549, RefSeq RNA:NM_174889, UniProtKB:Q8N183 No chr5 60240956 60448864 60945129 61153037 +PA164723795 25915 HGNC:29918 ENSG00000178057 NADH:ubiquinone oxidoreductase complex assembly factor 3 NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 2P1, C3orf60, DKFZP564J0123, E3-3, MGC10527 Yes No Ensembl:ENSG00000178057, GeneCard:NDUFAF3, HGNC:HGNC:29918, NCBI Gene:25915, OMIM:252010, OMIM:612911, RefSeq DNA:NG_016282, RefSeq DNA:NT_022517, RefSeq Protein:NP_951032, RefSeq Protein:NP_951033, RefSeq Protein:NP_951047, RefSeq Protein:NP_951056, RefSeq Protein:NP_955449, RefSeq RNA:NM_199069, RefSeq RNA:NM_199070, RefSeq RNA:NM_199073, RefSeq RNA:NM_199074, RefSeq RNA:NM_199417, UniProtKB:A4FU71, UniProtKB:Q9BU61, UniProtKB:Q9Y3Z0 No chr3 49057908 49060928 49020475 49023495 +PA164723808 29078 HGNC:21034 ENSG00000123545 NADH:ubiquinone oxidoreductase complex assembly factor 4 NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 C6orf66, HRPAP20, HSPC125, My013, bA22L21.1 Yes No Ensembl:ENSG00000123545, GeneCard:NDUFAF4, HGNC:HGNC:21034, HumanCyc Gene:HS13094, NCBI Gene:29078, OMIM:252010, OMIM:611776, RefSeq DNA:NG_013379, RefSeq DNA:NT_025741, RefSeq Protein:NP_054884, RefSeq RNA:NM_014165, UniProtKB:Q9P032 No chr6 97337187 97345767 96889311 96897891 +PA25780 79133 HGNC:15899 ENSG00000101247 NADH:ubiquinone oxidoreductase complex assembly factor 5 NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 C20orf7, dJ842G6.1 Yes No Comparative Toxicogenomics Database:79133, Ensembl:ENSG00000101247, GenAtlas:C20orf7, GeneCard:C20orf7, HGNC:HGNC:15899, HumanCyc Gene:HS12448, ModBase:Q5TEU4, NCBI Gene:79133, OMIM:252010, OMIM:612360, RefSeq DNA:NG_015811, RefSeq DNA:NT_011387, RefSeq Protein:NP_001034464, RefSeq Protein:NP_077025, RefSeq RNA:NM_001039375, RefSeq RNA:NM_024120, RefSeq RNA:NR_029377, UCSC Genome Browser:NM_024120, UniProtKB:Q5TEU4 No chr20 13765672 13799067 13785026 13821580 +PA142672357 137682 HGNC:28625 ENSG00000156170 NADH:ubiquinone oxidoreductase complex assembly factor 6 NDUFAF6 """NADH dehydrogenase (ubiquinone) complex I, assembly factor 6"", ""long non-coding RNA REplication STress""" C8orf38, MGC40214, lncREST Yes No Ensembl:ENSG00000156170, GeneCard:C8orf38, HGNC:HGNC:28625, HumanCyc Gene:HS14605, ModBase:Q330K2, NCBI Gene:137682, OMIM:256000, OMIM:612392, RefSeq DNA:NG_016647, RefSeq DNA:NT_008046, RefSeq Protein:NP_689629, RefSeq RNA:NM_152416, UniProtKB:Q330K2 No chr8 96037209 96115685 94895271 95118496 +PA162379266 55471 HGNC:28816 ENSG00000003509 NADH:ubiquinone oxidoreductase complex assembly factor 7 NDUFAF7 """NADH dehydrogenase (ubiquinone) complex I, assembly factor 7"", ""mitochondrial dysfunction protein A homolog""" C2orf56, MidA, PRO1853 Yes No Ensembl:ENSG00000003509, GeneCard:C2orf56, HGNC:HGNC:28816, HumanCyc Gene:HS11993, ModBase:Q7L592, NCBI Gene:55471, RefSeq DNA:NT_022184, RefSeq Protein:NP_001077415, RefSeq Protein:NP_653337, RefSeq RNA:NM_001083946, RefSeq RNA:NM_144736, UniProtKB:Q7L592 No chr2 37458774 37476303 37231631 37259052 +PA162378532 284184 HGNC:33551 ENSG00000224877 NADH:ubiquinone oxidoreductase complex assembly factor 8 NDUFAF8 chromosome 17 open reading frame 89 C17orf89 Yes No Ensembl:ENSG00000224877, GeneCard:C17orf89, HGNC:HGNC:33551, NCBI Gene:284184, RefSeq DNA:NT_010783, RefSeq Protein:NP_001079990, RefSeq RNA:NM_001086521, UniProtKB:A1L188 No chr17 79213039 79215098 81239311 81241298 +PA31501 4707 HGNC:7695 ENSG00000183648 NADH:ubiquinone oxidoreductase subunit B1 NDUFB1 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa"", ""complex I MNLL subunit""" CI-MNLL, MNLL Yes No Comparative Toxicogenomics Database:4707, Ensembl:ENSG00000183648, GenAtlas:NDUFB1, GeneCard:NDUFB1, HGNC:HGNC:7695, HumanCyc Gene:HS09306, NCBI Gene:4707, OMIM:603837, RefSeq DNA:NT_026437, RefSeq Protein:NP_004536, RefSeq RNA:NM_004545, UCSC Genome Browser:NM_004545, UniProtKB:O75438 No chr14 92582467 92588153 92116123 92121809 +PA31502 4716 HGNC:7696 ENSG00000140990 NADH:ubiquinone oxidoreductase subunit B10 NDUFB10 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa"", ""complex I PDSW subunit""" PDSW Yes No Comparative Toxicogenomics Database:4716, Ensembl:ENSG00000140990, GenAtlas:NDUFB10, GeneCard:NDUFB10, HGNC:HGNC:7696, HumanCyc Gene:HS06786, NCBI Gene:4716, OMIM:603843, RefSeq DNA:NT_010393, RefSeq Protein:NP_004539, RefSeq RNA:NM_004548, UCSC Genome Browser:NM_004548, UniProtKB:A8K761, UniProtKB:O96000 No chr16 2009517 2011976 1959516 1961975 +PA134924203 54539 HGNC:20372 ENSG00000147123 NADH:ubiquinone oxidoreductase subunit B11 NDUFB11 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa"", ""complex I NP17.3 subunit""" ESSS, NP17.3, Np15 Yes No Comparative Toxicogenomics Database:54539, Ensembl:ENSG00000147123, GeneCard:NDUFB11, HGNC:HGNC:20372, HumanCyc Gene:HS14193, NCBI Gene:54539, OMIM:300403, RefSeq DNA:NT_079573, RefSeq Protein:NP_001129470, RefSeq Protein:NP_061929, RefSeq RNA:NM_001135998, RefSeq RNA:NM_019056, RefSeq RNA:NR_024234, RefSeq RNA:NR_024235, UniProtKB:Q9NX14 No chrX 47001615 47004609 47142216 47145210 +PA31503 4708 HGNC:7697 ENSG00000090266 NADH:ubiquinone oxidoreductase subunit B2 NDUFB2 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa"", ""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit""" AGGG, CI-AGGG Yes No Comparative Toxicogenomics Database:4708, Ensembl:ENSG00000090266, GenAtlas:NDUFB2, GeneCard:NDUFB2, HGNC:HGNC:7697, HumanCyc Gene:HS01679, NCBI Gene:4708, OMIM:603838, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_004537, RefSeq RNA:NM_004546, UCSC Genome Browser:NM_004546, UniProtKB:A4D1T5, UniProtKB:O95178 No chr7 140396481 140406446 140696681 140706646 +PA31504 4709 HGNC:7698 ENSG00000119013 NADH:ubiquinone oxidoreductase subunit B3 NDUFB3 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa"", ""complex I B12 subunit""" B12 Yes No Comparative Toxicogenomics Database:4709, Ensembl:ENSG00000119013, GenAtlas:NDUFB3, GeneCard:NDUFB3, HGNC:HGNC:7698, HumanCyc Gene:HS04271, NCBI Gene:4709, OMIM:603839, RefSeq DNA:NT_005403, RefSeq Protein:NP_002482, RefSeq RNA:NM_002491, UCSC Genome Browser:NM_002491, UniProtKB:O43676, UniProtKB:Q6IB80 No chr2 201936462 201950473 201071739 201085750 +PA31505 93993 HGNC:13673 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 1 NDUFB3P1 Yes No GenAtlas:NDUFB3P1, GeneCard:NDUFB3P1, HGNC:HGNC:13673, NCBI Gene:93993, RefSeq DNA:NG_000954, RefSeq DNA:NT_032977 No chr1 109635089 109635662 109092467 109093040 +PA31506 93994 HGNC:13674 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 2 NDUFB3P2 Yes No GenAtlas:NDUFB3P2, GeneCard:NDUFB3P2, HGNC:HGNC:13674, NCBI Gene:93994, RefSeq DNA:NG_000955, RefSeq DNA:NT_008470 No chr9 127940793 127941096 125178475 125178816 +PA31507 93996 HGNC:13675 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 3 NDUFB3P3 Yes No GenAtlas:NDUFB3P3, GeneCard:NDUFB3P3, HGNC:HGNC:13675, NCBI Gene:93996, RefSeq DNA:NG_000957, RefSeq DNA:NT_026437 No chr14 53478647 53479116 53011929 53012398 +PA31508 93995 HGNC:13676 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 4 NDUFB3P4 Yes No GenAtlas:NDUFB3P4, GeneCard:NDUFB3P4, HGNC:HGNC:13676, NCBI Gene:93995, RefSeq DNA:NG_000956, RefSeq DNA:NT_026437 No chr14 +PA31509 93997 HGNC:13677 ENSG00000227779 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 5 NDUFB3P5 Yes No Ensembl:ENSG00000227779, GenAtlas:NDUFB3P5, GeneCard:NDUFB3P5, HGNC:HGNC:13677, NCBI Gene:93997, RefSeq DNA:NG_000958, RefSeq DNA:NT_011786 No chrX 140474941 140475401 141380777 141381228 +PA31510 4710 HGNC:7699 ENSG00000065518 NADH:ubiquinone oxidoreductase subunit B4 NDUFB4 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa"", ""complex I B15 subunit""" B15 Yes No Comparative Toxicogenomics Database:4710, Ensembl:ENSG00000065518, GenAtlas:NDUFB4, GeneCard:NDUFB4, HGNC:HGNC:7699, HumanCyc Gene:HS00843, NCBI Gene:4710, OMIM:603840, RefSeq DNA:NT_005612, RefSeq Protein:NP_001161803, RefSeq Protein:NP_004538, RefSeq RNA:NM_001168331, RefSeq RNA:NM_004547, UCSC Genome Browser:NM_004547, UniProtKB:B2RUY3, UniProtKB:O95168 No chr3 120315128 120321258 120596281 120602411 +PA31511 4711 HGNC:7700 ENSG00000136521 NADH:ubiquinone oxidoreductase subunit B5 NDUFB5 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa"", ""complex I SGDH subunit""" CI-SGDH, MGC12314, SGDH Yes No Comparative Toxicogenomics Database:4711, Ensembl:ENSG00000136521, GenAtlas:NDUFB5, GeneCard:NDUFB5, HGNC:HGNC:7700, HumanCyc Gene:HS06175, NCBI Gene:4711, OMIM:603841, RefSeq DNA:NT_005612, RefSeq Protein:NP_001186886, RefSeq Protein:NP_001186887, RefSeq Protein:NP_002483, RefSeq RNA:NM_001199957, RefSeq RNA:NM_001199958, RefSeq RNA:NM_002492, UCSC Genome Browser:NM_002492, UniProtKB:O43674 No chr3 179322575 179342288 179604787 179624500 +PA31512 4712 HGNC:7701 ENSG00000165264 NADH:ubiquinone oxidoreductase subunit B6 NDUFB6 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa"", ""NADH-ubiquinone oxidoreductase B17 subunit"", ""NADH-ubiquinone oxidoreductase beta subunit, 6"", ""complex I, mitochondrial respiratory chain, B17 subunit""" B17, CI Yes No Comparative Toxicogenomics Database:4712, Ensembl:ENSG00000165264, GenAtlas:NDUFB6, GeneCard:NDUFB6, HGNC:HGNC:7701, HumanCyc Gene:HS09208, NCBI Gene:4712, OMIM:603322, RefSeq DNA:NG_011511, RefSeq DNA:NT_008413, RefSeq Protein:NP_001186916, RefSeq Protein:NP_002484, RefSeq Protein:NP_877416, RefSeq RNA:NM_001199987, RefSeq RNA:NM_002493, RefSeq RNA:NM_182739, UCSC Genome Browser:NM_002493, UniProtKB:O95139, UniProtKB:Q5VYT2 No chr9 32553524 32573182 32553526 32573184 +PA31513 4713 HGNC:7702 ENSG00000099795 NADH:ubiquinone oxidoreductase subunit B7 NDUFB7 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa"", ""NADH-ubiquinone oxidoreductase B18 subunit"", ""complex I B18 subunit""" B18, CI-B18, MGC2480 Yes No Comparative Toxicogenomics Database:4713, Ensembl:ENSG00000099795, GenAtlas:NDUFB7, GeneCard:NDUFB7, HGNC:HGNC:7702, HumanCyc Gene:HS01908, NCBI Gene:4713, OMIM:603842, RefSeq DNA:NT_011295, RefSeq Protein:NP_004137, RefSeq RNA:NM_004146, UCSC Genome Browser:NM_004146, UniProtKB:P17568 No chr19 14676890 14682889 14566078 14572077 +PA31514 4714 HGNC:7703 ENSG00000166136 NADH:ubiquinone oxidoreductase subunit B8 NDUFB8 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa"", ""complex I ASHI subunit""" ASHI, CI-ASHI Yes No Comparative Toxicogenomics Database:4714, Ensembl:ENSG00000166136, GenAtlas:NDUFB8, GeneCard:NDUFB8, HGNC:HGNC:7703, HumanCyc Gene:HS09335, ModBase:O95169, NCBI Gene:4714, OMIM:602140, RefSeq DNA:NT_030059, RefSeq Protein:NP_004995, RefSeq RNA:NM_005004, UCSC Genome Browser:NM_005004, UniProtKB:O95169 No chr10 102283497 102289640 100523729 100529923 +PA134917839 326606 HGNC:20023 ENSG00000258972 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 1 NDUFB8P1 Yes No Ensembl:ENSG00000258972, GeneCard:NDUFB8P1, HGNC:HGNC:20023, NCBI Gene:326606, RefSeq DNA:NG_002595, RefSeq DNA:NT_026437 No chr14 74098160 74098825 73631456 73632121 +PA31515 4715 HGNC:7704 ENSG00000147684 NADH:ubiquinone oxidoreductase subunit B9 NDUFB9 """NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa"", ""complex I B22 subunit""" B22, LYRM3, UQOR22 Yes No Comparative Toxicogenomics Database:4715, Ensembl:ENSG00000147684, GenAtlas:NDUFB9, GeneCard:NDUFB9, HGNC:HGNC:7704, HumanCyc Gene:HS07466, NCBI Gene:4715, OMIM:601445, RefSeq DNA:NT_008046, RefSeq Protein:NP_004996, RefSeq RNA:NM_005005, UCSC Genome Browser:NM_005005, UniProtKB:Q9Y6M9 No chr8 125551343 125580751 124539102 124549986 +PA31516 4717 HGNC:7705 ENSG00000109390 NADH:ubiquinone oxidoreductase subunit C1 NDUFC1 """NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa"", ""complex I KFYI subunit""" KFYI Yes No Comparative Toxicogenomics Database:4717, Ensembl:ENSG00000109390, GenAtlas:NDUFC1, GeneCard:NDUFC1, HGNC:HGNC:7705, HumanCyc Gene:HS03223, NCBI Gene:4717, OMIM:603844, RefSeq DNA:NT_016354, RefSeq Protein:NP_001171915, RefSeq Protein:NP_001171916, RefSeq Protein:NP_001171917, RefSeq Protein:NP_001171918, RefSeq Protein:NP_001171919, RefSeq Protein:NP_001171920, RefSeq Protein:NP_002485, RefSeq RNA:NM_001184986, RefSeq RNA:NM_001184987, RefSeq RNA:NM_001184988, RefSeq RNA:NM_001184989, RefSeq RNA:NM_001184990, RefSeq RNA:NM_001184991, RefSeq RNA:NM_002494, UCSC Genome Browser:NM_002494, UniProtKB:O43677 No chr4 140211071 140223705 139289917 139302551 +PA31517 4718 HGNC:7706 ENSG00000151366 NADH:ubiquinone oxidoreductase subunit C2 NDUFC2 """NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa"", ""complex I subunit B14.5b"", ""human lung cancer oncogene 1""" B14.5b, HLC-1 Yes No Comparative Toxicogenomics Database:4718, Ensembl:ENSG00000151366, GenAtlas:NDUFC2, GeneCard:NDUFC2, HGNC:HGNC:7706, HumanCyc Gene:HS07729, NCBI Gene:4718, OMIM:603845, RefSeq DNA:NT_167190, RefSeq Protein:NP_001190983, RefSeq Protein:NP_001190984, RefSeq Protein:NP_004540, RefSeq RNA:NM_001204054, RefSeq RNA:NM_001204055, RefSeq RNA:NM_004549, UCSC Genome Browser:NM_004549, UniProtKB:O95298, UniProtKB:Q549M5 No chr11 77779393 77791265 78068347 78080219 +PA31518 4719 HGNC:7707 ENSG00000023228 NADH:ubiquinone oxidoreductase core subunit S1 NDUFS1 """NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"", ""complex I 75kDa subunit""" CI-75k Yes No Comparative Toxicogenomics Database:4719, Ensembl:ENSG00000023228, GenAtlas:NDUFS1, GeneCard:NDUFS1, HGNC:HGNC:7707, HumanCyc Gene:HS00422, ModBase:P28331, NCBI Gene:4719, OMIM:157655, OMIM:252010, RefSeq DNA:NG_009248, RefSeq DNA:NT_005403, RefSeq Protein:NP_001186910, RefSeq Protein:NP_001186911, RefSeq Protein:NP_001186912, RefSeq Protein:NP_001186913, RefSeq Protein:NP_004997, RefSeq RNA:NM_001199981, RefSeq RNA:NM_001199982, RefSeq RNA:NM_001199983, RefSeq RNA:NM_001199984, RefSeq RNA:NM_005006, UCSC Genome Browser:NM_005006, UniProtKB:P28331 No chr2 206987803 207024243 206121971 206159519 +PA31519 4720 HGNC:7708 ENSG00000158864 NADH:ubiquinone oxidoreductase core subunit S2 NDUFS2 """NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"", ""complex I 49kDa subunit""" CI-49 Yes No Comparative Toxicogenomics Database:4720, Ensembl:ENSG00000158864, GenAtlas:NDUFS2, GeneCard:NDUFS2, HGNC:HGNC:7708, HumanCyc Gene:HS08339, ModBase:O75306, NCBI Gene:4720, OMIM:252010, OMIM:602985, RefSeq DNA:NG_013352, RefSeq DNA:NT_004487, RefSeq Protein:NP_001159631, RefSeq Protein:NP_004541, RefSeq RNA:NM_001166159, RefSeq RNA:NM_004550, UCSC Genome Browser:NM_004550, UniProtKB:B7Z792, UniProtKB:O75306 No chr1 161167209 161184185 161197377 161214395 +PA31520 4722 HGNC:7710 ENSG00000213619 NADH:ubiquinone oxidoreductase core subunit S3 NDUFS3 """NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"", ""complex I 30kDa subunit""" CI-30 Yes No Comparative Toxicogenomics Database:4722, Ensembl:ENSG00000213619, GenAtlas:NDUFS3, GeneCard:NDUFS3, HGNC:HGNC:7710, HumanCyc Gene:HS03319, ModBase:O75489, NCBI Gene:4722, OMIM:256000, OMIM:603846, RefSeq DNA:NG_011946, RefSeq DNA:NT_009237, RefSeq Protein:NP_004542, RefSeq RNA:NM_004551, UCSC Genome Browser:NM_004551, UniProtKB:O75489 No chr11 47600562 47606115 47579010 47584563 +PA31521 4724 HGNC:7711 ENSG00000164258 NADH:ubiquinone oxidoreductase subunit S4 NDUFS4 """NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)"", ""complex I 18kDa subunit""" AQDQ, CI-18 Yes No Comparative Toxicogenomics Database:4724, Ensembl:ENSG00000164258, GenAtlas:NDUFS4, GeneCard:NDUFS4, HGNC:HGNC:7711, HumanCyc Gene:HS09048, ModBase:O43181, NCBI Gene:4724, OMIM:252010, OMIM:256000, OMIM:602694, RefSeq DNA:NG_008200, RefSeq DNA:NT_006713, RefSeq Protein:NP_002486, RefSeq RNA:NM_002495, UCSC Genome Browser:NM_002495, UniProtKB:O43181 No chr5 52856464 52979171 53560610 53683341 +PA31522 4725 HGNC:7712 ENSG00000168653 NADH:ubiquinone oxidoreductase subunit S5 NDUFS5 """NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"", ""complex I 51kDa subunit""" CI-15k Yes No Comparative Toxicogenomics Database:4725, Ensembl:ENSG00000168653, GenAtlas:NDUFS5, GeneCard:NDUFS5, HGNC:HGNC:7712, HumanCyc Gene:HS09799, ModBase:O43920, NCBI Gene:4725, OMIM:603847, RefSeq DNA:NT_032977, RefSeq Protein:NP_001171908, RefSeq Protein:NP_004543, RefSeq RNA:NM_001184979, RefSeq RNA:NM_004552, UCSC Genome Browser:NM_004552, UniProtKB:O43920, UniProtKB:Q6IBA0 No chr1 39491967 39500308 39026295 39034636 +PA31523 4726 HGNC:7713 ENSG00000145494 NADH:ubiquinone oxidoreductase subunit S6 NDUFS6 """NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"", ""complex I 13kDa subunit A""" CI-13kA Yes No Comparative Toxicogenomics Database:4726, Ensembl:ENSG00000145494, GenAtlas:NDUFS6, GeneCard:NDUFS6, HGNC:HGNC:7713, HumanCyc Gene:HS07258, ModBase:O75380, NCBI Gene:4726, OMIM:252010, OMIM:603848, RefSeq DNA:NG_013354, RefSeq DNA:NT_006576, RefSeq Protein:NP_004544, RefSeq RNA:NM_004553, UCSC Genome Browser:NM_004553, UniProtKB:O75380, UniProtKB:Q6IBC4 No chr5 1801496 1816165 1801382 1816051 +PA31524 374291 HGNC:7714 ENSG00000115286 NADH:ubiquinone oxidoreductase core subunit S7 NDUFS7 """NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"", ""complex I 20kDa subunit""" CI-20, FLJ45860, FLJ46880, PSST Yes No Comparative Toxicogenomics Database:374291, Ensembl:ENSG00000115286, GenAtlas:NDUFS7, GeneCard:NDUFS7, HGNC:HGNC:7714, ModBase:O75251, NCBI Gene:374291, OMIM:256000, OMIM:601825, RefSeq DNA:NG_008283, RefSeq DNA:NT_011255, RefSeq Protein:NP_077718, RefSeq RNA:NM_024407, UCSC Genome Browser:NM_024407, UniProtKB:O75251, UniProtKB:Q7LD69 No chr19 1383526 1395588 1383571 1395589 +PA31525 4728 HGNC:7715 ENSG00000110717 NADH:ubiquinone oxidoreductase core subunit S8 NDUFS8 """NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"", ""complex I 23kDa subunit""" CI-23k, TYKY Yes No Comparative Toxicogenomics Database:4728, Ensembl:ENSG00000110717, GenAtlas:NDUFS8, GeneCard:NDUFS8, HGNC:HGNC:7715, HumanCyc Gene:HS03332, ModBase:O00217, NCBI Gene:4728, OMIM:256000, OMIM:602141, RefSeq DNA:NG_017040, RefSeq DNA:NT_167190, RefSeq Protein:NP_002487, RefSeq RNA:NM_002496, UCSC Genome Browser:NM_002496, UniProtKB:O00217 No chr11 67798084 67804114 68030617 68036647 +PA31526 4723 HGNC:7716 ENSG00000167792 NADH:ubiquinone oxidoreductase core subunit V1 NDUFV1 """NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"", ""complex I 51kDa subunit""" CI-51K Yes No Comparative Toxicogenomics Database:4723, Ensembl:ENSG00000167792, GenAtlas:NDUFV1, GeneCard:NDUFV1, HGNC:HGNC:7716, HumanCyc Gene:HS09641, ModBase:P49821, NCBI Gene:4723, OMIM:161015, OMIM:203450, OMIM:252010, OMIM:256000, RefSeq DNA:NG_013353, RefSeq DNA:NT_167190, RefSeq Protein:NP_001159574, RefSeq Protein:NP_009034, RefSeq RNA:NM_001166102, RefSeq RNA:NM_007103, UCSC Genome Browser:NM_007103, UniProtKB:P49821 No chr11 67374323 67380012 67606852 67612541 +PA31527 4729 HGNC:7717 ENSG00000178127 NADH:ubiquinone oxidoreductase core subunit V2 NDUFV2 """NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"", ""complex I 24kDa subunit""" CI-24k Yes No Comparative Toxicogenomics Database:4729, Ensembl:ENSG00000178127, GenAtlas:NDUFV2, GeneCard:NDUFV2, HGNC:HGNC:7717, HumanCyc Gene:HS11253, ModBase:P19404, NCBI Gene:4729, OMIM:168600, OMIM:600532, RefSeq DNA:NG_013355, RefSeq DNA:NT_010859, RefSeq Protein:NP_066552, RefSeq RNA:NM_021074, UCSC Genome Browser:NM_021074, UniProtKB:P19404 No chr18 9102628 9134343 9102623 9134345 +PA31528 4730 HGNC:7718 ENSG00000267809 NADH dehydrogenase (ubiquinone) flavoprotein 2 pseudogene 1 NDUFV2P1 Yes No Ensembl:ENSG00000267809, GenAtlas:NDUFV2P1, GeneCard:NDUFV2P1, HGNC:HGNC:7718, NCBI Gene:4730, RefSeq DNA:NG_001161, RefSeq DNA:NT_011109 No chr19 53727161 53728132 53223908 53224879 +PA31529 4731 HGNC:7719 ENSG00000160194 NADH:ubiquinone oxidoreductase subunit V3 NDUFV3 """NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa"", ""complex I 10kDa subunit""" CI-10k Yes No Ensembl:ENSG00000160194, GenAtlas:NDUFV3, GeneCard:NDUFV3, HGNC:HGNC:7719, HumanCyc Gene:HS08459, NCBI Gene:4731, OMIM:602184, RefSeq DNA:NT_011515, RefSeq Protein:NP_001001503, RefSeq Protein:NP_066553, RefSeq RNA:NM_001001503, RefSeq RNA:NM_021075, UCSC Genome Browser:NM_021075, UniProtKB:P56181 No chr21 44313378 44329773 42893268 42911396 +PA165543519 283131 HGNC:30815 ENSG00000245532 nuclear paraspeckle assembly transcript 1 (non-protein coding) NEAT1 long intergenic non-protein coding RNA 84, nuclear enriched abundant transcript 1, trophoblast derived non-protein coding RNA LINC00084, MENepsilon/beta, TncRNA Yes No Ensembl:ENSG00000245532, GeneCard:NEAT1, HGNC:HGNC:30815, HumanCyc Gene:HS11800, NCBI Gene:283131, OMIM:612769, RefSeq DNA:NT_033903, RefSeq DNA:NT_167190, RefSeq RNA:NR_002802, RefSeq RNA:NR_028272 No chr11 65190269 65194003 65422798 65445540 +PA31530 4703 HGNC:7720 ENSG00000183091 nebulin NEB nemaline myopathy type 2 NEB177D, NEM2 Yes No Comparative Toxicogenomics Database:4703, Ensembl:ENSG00000183091, GenAtlas:NEB, GeneCard:NEB, HGNC:HGNC:7720, HumanCyc Gene:HS01352, NCBI Gene:4703, OMIM:161650, OMIM:256030, RefSeq DNA:NG_009382, RefSeq DNA:NT_005403, RefSeq Protein:NP_001157979, RefSeq Protein:NP_001157980, RefSeq Protein:NP_004534, RefSeq RNA:NM_001164507, RefSeq RNA:NM_001164508, RefSeq RNA:NM_004543, UCSC Genome Browser:NM_004543, UniProtKB:P20929, UniProtKB:Q05C45, UniProtKB:Q14214, UniProtKB:Q96MF8 No chr2 152341853 152591001 151485334 151734487 +PA134981177 10529 HGNC:16932 ENSG00000078114 nebulette NEBL LIM and SH3 protein 2, LIM-nebulette C10orf113, LASP2, LNEBL, bA165O3.1 Yes No Comparative Toxicogenomics Database:10529, Ensembl:ENSG00000078114, GeneCard:NEBL, HGNC:HGNC:16932, HumanCyc Gene:HS01272, ModBase:O76041, NCBI Gene:10529, OMIM:605491, RefSeq DNA:NG_017092, RefSeq DNA:NT_008705, RefSeq Protein:NP_001166955, RefSeq Protein:NP_006384, RefSeq Protein:NP_998734, RefSeq RNA:NM_001173484, RefSeq RNA:NM_006393, RefSeq RNA:NM_213569, UniProtKB:O76041, UniProtKB:Q59FZ8, UniProtKB:Q70I54 No chr10 21068900 21463116 20779973 21174187 +PA162397411 64168 HGNC:20983 ENSG00000123119 N-terminal EF-hand calcium binding protein 1 NECAB1 EFCBP1 Yes Yes Ensembl:ENSG00000123119, GeneCard:NECAB1, HGNC:HGNC:20983, HumanCyc Gene:HS04629, ModBase:Q8N987, NCBI Gene:64168, RefSeq DNA:NT_008046, RefSeq Protein:NP_071746, RefSeq RNA:NM_022351, UniProtKB:Q8N987 No chr8 91803921 91971630 90791693 90959402 +PA162397412 54550 HGNC:23746 ENSG00000103154 N-terminal EF-hand calcium binding protein 2 NECAB2 EFCBP2 Yes No Ensembl:ENSG00000103154, GeneCard:NECAB2, HGNC:HGNC:23746, HumanCyc Gene:HS12514, ModBase:Q7Z6G3, NCBI Gene:54550, RefSeq DNA:NT_010498, RefSeq Protein:NP_061938, RefSeq RNA:NM_019065, UniProtKB:Q7Z6G3 No chr16 84002237 84036379 83968632 84002776 +PA24871 63941 HGNC:15851 ENSG00000125967 N-terminal EF-hand calcium binding protein 3 NECAB3 EF-hand calcium binding protein 3 APBA2BP, EFCBP3, NIP1, SYTIP2, XB51, dJ63M2.4, dJ63M2.5 Yes No Ensembl:ENSG00000125967, GenAtlas:APBA2BP, GeneCard:APBA2BP, GeneCard:NECAB3, HGNC:HGNC:15851, HumanCyc Gene:HS04979, NCBI Gene:63941, OMIM:612478, RefSeq DNA:NT_011362, RefSeq DNA:NT_028392, RefSeq Protein:NP_112508, RefSeq Protein:NP_112509, RefSeq RNA:NM_031231, RefSeq RNA:NM_031232, UCSC Genome Browser:NM_031231, UniProtKB:Q96P71 No chr20 32244893 32262264 33657087 33674458 +PA142671267 25977 HGNC:24539 ENSG00000089818 NECAP endocytosis associated 1 NECAP1 adaptin-ear-binding coat-associated protein 1 DKFZP566B183 Yes No Ensembl:ENSG00000089818, GeneCard:NECAP1, HGNC:HGNC:24539, HumanCyc Gene:HS12324, ModBase:Q8NC96, NCBI Gene:25977, OMIM:611623, RefSeq DNA:NT_009714, RefSeq Protein:NP_056324, RefSeq RNA:NM_015509, RefSeq RNA:NR_024260, UniProtKB:Q8NC96 No chr12 8234807 8250373 8082211 8097777 +PA142671268 55707 HGNC:25528 ENSG00000157191 NECAP endocytosis associated 2 NECAP2 adaptin-ear-binding coat-associated protein 2 FLJ10420 Yes No Comparative Toxicogenomics Database:55707, Ensembl:ENSG00000157191, GeneCard:NECAP2, HGNC:HGNC:25528, HumanCyc Gene:HS14653, ModBase:Q9NVZ3, NCBI Gene:55707, OMIM:611624, RefSeq DNA:NT_004610, RefSeq Protein:NP_001138749, RefSeq Protein:NP_001138750, RefSeq Protein:NP_060560, RefSeq RNA:NM_001145277, RefSeq RNA:NM_001145278, RefSeq RNA:NM_018090, UniProtKB:B4DY19, UniProtKB:Q9NVZ3 No chr1 16767167 16786585 16440672 16460090 +PA34051 5818 HGNC:9706 ENSG00000110400 nectin cell adhesion molecule 1 NECTIN1 nectin, poliovirus receptor-related 1 (herpesvirus entry mediator C) CD111, CLPED1, ED4, HIgR, HV1S, HVEC, Nectin-1, OFC7, PRR, PRR1, PVRL1, PVRR1, SK-12 Yes No Comparative Toxicogenomics Database:5818, Ensembl:ENSG00000110400, GenAtlas:PVRL1, GeneCard:PVRL1, HGNC:HGNC:9706, HumanCyc Gene:HS03307, ModBase:Q15223, NCBI Gene:5818, OMIM:225000, OMIM:225060, OMIM:600644, RefSeq DNA:NG_013083, RefSeq DNA:NT_033899, RefSeq Protein:NP_002846, RefSeq Protein:NP_976030, RefSeq Protein:NP_976031, RefSeq RNA:NM_002855, RefSeq RNA:NM_203285, RefSeq RNA:NM_203286, UCSC Genome Browser:NM_002855, UniProtKB:Q15223 No chr11 119508808 119599435 119638098 119728725 +PA34052 5819 HGNC:9707 ENSG00000130202 nectin cell adhesion molecule 2 NECTIN2 poliovirus receptor-related 2 (herpesvirus entry mediator B) CD112, HVEB, Nectin-2, PRR2, PVRL2, PVRR2 Yes No Comparative Toxicogenomics Database:5819, Ensembl:ENSG00000130202, GenAtlas:PVRL2, GeneCard:PVRL2, HGNC:HGNC:9707, HumanCyc Gene:HS05351, ModBase:Q92692, NCBI Gene:5819, OMIM:600798, RefSeq DNA:NT_011109, RefSeq Protein:NP_001036189, RefSeq Protein:NP_002847, RefSeq RNA:NM_001042724, RefSeq RNA:NM_002856, UCSC Genome Browser:NM_002856, UniProtKB:Q92692 No chr19 45349393 45392485 44846136 44889228 +PA134969621 25945 HGNC:17664 ENSG00000177707 nectin cell adhesion molecule 3 NECTIN3 poliovirus receptor-related 3 CD113, CDw113, DKFZP566B0846, PPR3, PVRL3, PVRR3, nectin-3 Yes No Comparative Toxicogenomics Database:25945, Ensembl:ENSG00000177707, GeneCard:PVRL3, HGNC:HGNC:17664, HumanCyc Gene:HS16908, ModBase:Q9NQS3, NCBI Gene:25945, OMIM:607147, RefSeq DNA:NT_005612, RefSeq Protein:NP_056295, RefSeq RNA:NM_015480, RefSeq RNA:XR_108463, UniProtKB:Q9NQS3 No chr3 110790606 110913017 111071759 111201444 +PA134991624 81607 HGNC:19688 ENSG00000143217 nectin cell adhesion molecule 4 NECTIN4 poliovirus receptor-related 4 LNIR, PRR4, PVRL4, nectin-4 Yes Yes Ensembl:ENSG00000143217, GeneCard:PVRL4, HGNC:HGNC:19688, HumanCyc Gene:HS13955, ModBase:Q96NY8, NCBI Gene:81607, OMIM:609607, RefSeq DNA:NT_004487, RefSeq Protein:NP_112178, RefSeq RNA:NM_030916, UniProtKB:Q96NY8 No chr1 161040781 161059385 161070991 161089595 +PA31531 121441 HGNC:7723 ENSG00000139350 NEDD1 gamma-tubulin ring complex targeting factor NEDD1 """neural precursor cell expressed, developmentally down-regulated 1"", ""tubulin gamma complex associated protein 7""" GCP-WD, TUBGCP7 Yes No Comparative Toxicogenomics Database:121441, Ensembl:ENSG00000139350, GenAtlas:NEDD1, GeneCard:NEDD1, HGNC:HGNC:7723, HumanCyc Gene:HS13774, ModBase:Q8NHV4, NCBI Gene:121441, OMIM:600372, RefSeq DNA:NT_029419, RefSeq Protein:NP_001128647, RefSeq Protein:NP_001128648, RefSeq Protein:NP_001128649, RefSeq Protein:NP_690869, RefSeq RNA:NM_001135175, RefSeq RNA:NM_001135176, RefSeq RNA:NM_001135177, RefSeq RNA:NM_152905, UCSC Genome Browser:NM_152905, UniProtKB:A8K1Z3, UniProtKB:B4E145, UniProtKB:Q8NHV4 No chr12 97301001 97347474 96907222 96953691 +PA31533 4734 HGNC:7727 ENSG00000069869 NEDD4 E3 ubiquitin protein ligase NEDD4 """neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase"", ""receptor-potentiating factor 1""" KIAA0093, MGC176705, NEDD4-1, RPF1 Yes Yes Comparative Toxicogenomics Database:4734, Ensembl:ENSG00000069869, GenAtlas:NEDD4, GeneCard:NEDD4, HGNC:HGNC:7727, HumanCyc Gene:HS00973, ModBase:P46934, NCBI Gene:4734, OMIM:602278, RefSeq DNA:NT_010194, RefSeq Protein:NP_006145, RefSeq Protein:NP_940682, RefSeq RNA:NM_006154, RefSeq RNA:NM_198400, UniProtKB:P46934 No chr15 56119120 56285835 55826917 55993746 +PA31534 23327 HGNC:7728 ENSG00000049759 NEDD4 like E3 ubiquitin protein ligase NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase KIAA0439, NEDD4-2, RSP5 Yes Yes Comparative Toxicogenomics Database:23327, Ensembl:ENSG00000049759, GenAtlas:NEDD4L, GeneCard:NEDD4L, HGNC:HGNC:7728, HumanCyc Gene:HS00626, ModBase:Q9H2W4, NCBI Gene:23327, OMIM:606384, RefSeq DNA:NT_025028, RefSeq Protein:NP_001138436, RefSeq Protein:NP_001138437, RefSeq Protein:NP_001138438, RefSeq Protein:NP_001138439, RefSeq Protein:NP_001138440, RefSeq Protein:NP_001138441, RefSeq Protein:NP_001138442, RefSeq Protein:NP_001138443, RefSeq Protein:NP_056092, RefSeq RNA:NM_001144964, RefSeq RNA:NM_001144965, RefSeq RNA:NM_001144966, RefSeq RNA:NM_001144967, RefSeq RNA:NM_001144968, RefSeq RNA:NM_001144969, RefSeq RNA:NM_001144970, RefSeq RNA:NM_001144971, RefSeq RNA:NM_015277, UCSC Genome Browser:NM_015277, UniProtKB:Q3LSM7, UniProtKB:Q96PU5 No chr18 55711580 56068772 58044362 58401540 +PA31537 4738 HGNC:7732 ENSG00000129559 NEDD8 ubiquitin like modifier NEDD8 neural precursor cell expressed, developmentally down-regulated 8 Nedd-8 Yes No Comparative Toxicogenomics Database:4738, Ensembl:ENSG00000129559, GenAtlas:NEDD8, GeneCard:NEDD8, HGNC:HGNC:7732, HumanCyc Gene:HS05293, ModBase:Q15843, NCBI Gene:4738, OMIM:603171, RefSeq DNA:NT_026437, RefSeq Protein:NP_006147, RefSeq RNA:NM_006156, UCSC Genome Browser:NM_006156, UniProtKB:Q15843 No chr14 24686057 24701576 24216851 24232370 +PA31538 4739 HGNC:7733 ENSG00000111859 neural precursor cell expressed, developmentally down-regulated 9 NEDD9 Cas scaffolding protein family member 2, Cas-like CAS-L, CASS2, HEF1 Yes No Comparative Toxicogenomics Database:4739, Ensembl:ENSG00000111859, GenAtlas:NEDD9, GeneCard:NEDD9, HGNC:HGNC:7733, ModBase:Q14511, NCBI Gene:4739, OMIM:602265, RefSeq DNA:NT_007592, RefSeq Protein:NP_001135865, RefSeq Protein:NP_006394, RefSeq Protein:NP_892011, RefSeq RNA:NM_001142393, RefSeq RNA:NM_006403, RefSeq RNA:NM_182966, UCSC Genome Browser:NM_006403, UniProtKB:A8K9G7, UniProtKB:Q14511, UniProtKB:Q5XKI0 No chr6 11183531 11382581 11183298 11382348 +PA31540 4744 HGNC:7737 ENSG00000100285 neurofilament heavy chain NEFH """neurofilament heavy"", ""neurofilament, heavy polypeptide""" NF-H, NFH Yes No Comparative Toxicogenomics Database:4744, Ensembl:ENSG00000100285, GenAtlas:NEFH, GeneCard:NEFH, HGNC:HGNC:7737, HumanCyc Gene:HS02024, ModBase:P12036, NCBI Gene:4744, OMIM:105400, OMIM:162230, RefSeq DNA:NG_008404, RefSeq DNA:NT_011520, RefSeq Protein:NP_066554, RefSeq RNA:NM_021076, UCSC Genome Browser:NM_021076, UniProtKB:P12036 No chr22 29876181 29887279 29480192 29491290 +PA31541 339396 HGNC:7738 ENSG00000223489 neurofilament, heavy polypeptide pseudogene 1 NEFHP1 neurofilament, heavy polypeptide 200kDa (NEFH) pseudogene Yes No Ensembl:ENSG00000223489, GenAtlas:NEFHL, GeneCard:NEFHL, HGNC:HGNC:7738, NCBI Gene:339396 No chr1 117282606 117285231 116739784 116742652 +PA31542 4747 HGNC:7739 ENSG00000277586 neurofilament light chain NEFL """neurofilament light"", ""neurofilament, light polypeptide"", ""protein phosphatase 1, regulatory subunit 110""" CMT1F, CMT2E, NF68, NFL, PPP1R110 Yes No Comparative Toxicogenomics Database:4747, Ensembl:ENSG00000277586, GenAtlas:NEFL, GeneCard:NEFL, HGNC:HGNC:7739, HumanCyc Gene:HS02608, ModBase:P07196, NCBI Gene:4747, OMIM:162280, OMIM:607684, OMIM:607734, RefSeq DNA:NG_008492, RefSeq DNA:NT_167187, RefSeq Protein:NP_006149, RefSeq RNA:NM_006158, UCSC Genome Browser:NM_006158, UniProtKB:P07196 No chr8 24808468 24814383 24950955 24956869 +PA162397442 4741 HGNC:7734 ENSG00000104722 neurofilament medium chain NEFM """neurofilament medium"", ""neurofilament, medium polypeptide""" NEF3, NF-M, NFM Yes Yes Ensembl:ENSG00000104722, GeneCard:NEFM, HGNC:HGNC:7734, HumanCyc Gene:HS02606, ModBase:P07197, NCBI Gene:4741, OMIM:162250, RefSeq DNA:NG_008388, RefSeq DNA:NT_167187, RefSeq Protein:NP_001099011, RefSeq Protein:NP_005373, RefSeq RNA:NM_001105541, RefSeq RNA:NM_005382, UniProtKB:P07197, UniProtKB:Q9UK51 No chr8 24770712 24776607 24913761 24919093 +PA134862452 257194 HGNC:17302 ENSG00000172260 neuronal growth regulator 1 NEGR1 IgLON family member 4, a kindred of IgLON, neurotractin IGLON4, KILON, MGC46680, Ntra Yes No Ensembl:ENSG00000172260, GeneCard:NEGR1, HGNC:HGNC:17302, HumanCyc Gene:HS16064, ModBase:Q7Z3B1, NCBI Gene:257194, OMIM:613173, RefSeq DNA:NT_032977, RefSeq Protein:NP_776169, RefSeq RNA:NM_173808, UniProtKB:Q7Z3B1 No chr1 71868625 72748533 71402942 72282850 +PA38334 79661 HGNC:18448 ENSG00000140398 nei like DNA glycosylase 1 NEIL1 DNA endonuclease eight-like glycosylase 1, nei endonuclease VIII-like 1 (E. coli) FLJ22402, FPG1, NEI1, hFPG1 Yes Yes Comparative Toxicogenomics Database:79661, Ensembl:ENSG00000140398, GenAtlas:NEIL1, GeneCard:NEIL1, HGNC:HGNC:18448, HumanCyc Gene:HS06712, ModBase:Q96FI4, NCBI Gene:79661, OMIM:608844, RefSeq DNA:NT_010194, RefSeq Protein:NP_078884, RefSeq RNA:NM_024608, UCSC Genome Browser:NM_024608, UniProtKB:Q96FI4 No chr15 75639331 75647592 75346895 75355251 +PA38769 252969 HGNC:18956 ENSG00000154328 nei like DNA glycosylase 2 NEIL2 nei endonuclease VIII-like 2 (E. coli) FLJ31644, MGC2832, MGC4505, NEH2 Yes No Ensembl:ENSG00000154328, GenAtlas:NEIL2, GeneCard:NEIL2, HGNC:HGNC:18956, HumanCyc Gene:HS07973, ModBase:Q969S2, NCBI Gene:252969, OMIM:608933, RefSeq DNA:NT_077531, RefSeq Protein:NP_001129218, RefSeq Protein:NP_001129219, RefSeq Protein:NP_001129220, RefSeq Protein:NP_659480, RefSeq RNA:NM_001135746, RefSeq RNA:NM_001135747, RefSeq RNA:NM_001135748, RefSeq RNA:NM_145043, UCSC Genome Browser:NM_145043, UniProtKB:B4DFR7, UniProtKB:Q969S2 No chr8 11627172 11644854 11769663 11787346 +PA134889634 55247 HGNC:24573 ENSG00000109674 nei like DNA glycosylase 3 NEIL3 """nei endonuclease VIII-like 3 (E. coli)"", ""zinc finger, GRF-type containing 3""" FLJ10858, FPG2, ZGRF3, hFPG2, hNEI3 Yes No Ensembl:ENSG00000109674, GeneCard:NEIL3, HGNC:HGNC:24573, HumanCyc Gene:HS03247, ModBase:Q8TAT5, NCBI Gene:55247, OMIM:608934, RefSeq DNA:NT_016354, RefSeq Protein:NP_060718, RefSeq RNA:NM_018248, UniProtKB:Q8TAT5 No chr4 178230991 178284092 177309837 177362938 +PA31545 4750 HGNC:7744 ENSG00000137601 NIMA related kinase 1 NEK1 NIMA-related kinase 1 KIAA1901, NY-REN-55 Yes No Comparative Toxicogenomics Database:4750, Ensembl:ENSG00000137601, GenAtlas:NEK1, GeneCard:NEK1, HGNC:HGNC:7744, HumanCyc Gene:HS06366, ModBase:Q96PY6, NCBI Gene:4750, OMIM:604588, RefSeq DNA:NT_016354, RefSeq Protein:NP_001186326, RefSeq Protein:NP_001186327, RefSeq Protein:NP_001186328, RefSeq Protein:NP_001186329, RefSeq Protein:NP_036356, RefSeq RNA:NM_001199397, RefSeq RNA:NM_001199398, RefSeq RNA:NM_001199399, RefSeq RNA:NM_001199400, RefSeq RNA:NM_012224, UniProtKB:Q96PY6 No chr4 170314421 170533778 169393270 169612629 +PA38594 152110 HGNC:18592 ENSG00000163491 NIMA related kinase 10 NEK10 NIMA-related kinase 10 FLJ32685 Yes No Ensembl:ENSG00000163491, GenAtlas:NEK10, GeneCard:NEK10, HGNC:HGNC:18592, HumanCyc Gene:HS08859, NCBI Gene:152110, RefSeq DNA:NT_022517, RefSeq Protein:NP_955379, RefSeq RNA:NM_199347, UniProtKB:Q6ZWH5, UniProtKB:Q8N774 No chr3 27257097 27410912 27107336 27369460 +PA38595 79858 HGNC:18593 ENSG00000114670 NIMA related kinase 11 NEK11 NIMA-related kinase 11 FLJ23495 Yes No Ensembl:ENSG00000114670, GenAtlas:NEK11, GeneCard:NEK11, HGNC:HGNC:18593, HumanCyc Gene:HS03787, ModBase:Q8NG66, NCBI Gene:79858, OMIM:609779, RefSeq DNA:NT_005612, RefSeq Protein:NP_001139475, RefSeq Protein:NP_079076, RefSeq Protein:NP_665917, RefSeq RNA:NM_001146003, RefSeq RNA:NM_024800, RefSeq RNA:NM_145910, UCSC Genome Browser:NM_024800, UniProtKB:B4DM56, UniProtKB:Q8NG66 No chr3 130745694 131069309 131026850 131350465 +PA31546 4751 HGNC:7745 ENSG00000117650 NIMA related kinase 2 NEK2 """HsPK 21"", ""NIMA-related kinase 2"", ""protein phosphatase 1, regulatory subunit 111""" NEK2A, NLK1, PPP1R111, RP67 Yes No Comparative Toxicogenomics Database:4751, Ensembl:ENSG00000117650, GenAtlas:NEK2, GeneCard:NEK2, HGNC:HGNC:7745, HumanCyc Gene:HS04163, ModBase:P51955, NCBI Gene:4751, OMIM:604043, RefSeq DNA:NT_167186, RefSeq Protein:NP_001191111, RefSeq Protein:NP_001191112, RefSeq Protein:NP_002488, RefSeq RNA:NM_001204182, RefSeq RNA:NM_001204183, RefSeq RNA:NM_002497, UCSC Genome Browser:NM_002497, UniProtKB:P51955 No chr1 211831598 211848972 211658256 211675630 +PA134980094 326302 HGNC:19272 ENSG00000277367 NEK2 pseudogene 1 NEK2P1 Yes No Ensembl:ENSG00000277367, HGNC:HGNC:19272, NCBI Gene:326302, RefSeq DNA:NG_002554, RefSeq DNA:NT_026437 No chr14 20097140 20099257 18888449 18890566 +PA31547 4752 HGNC:7746 ENSG00000136098 NIMA related kinase 3 NEK3 NIMA-related kinase 3, glycogen synthase A kinase, hydroxyalkyl-protein kinase, phosphorylase B kinase kinase, serine/threonine-protein kinase NEK3 HSPK36, MGC29949 Yes No Ensembl:ENSG00000136098, GenAtlas:NEK3, GeneCard:NEK3, HGNC:HGNC:7746, HumanCyc Gene:HS06111, ModBase:P51956, NCBI Gene:4752, OMIM:604044, RefSeq DNA:NT_024524, RefSeq Protein:NP_001139571, RefSeq Protein:NP_002489, RefSeq Protein:NP_689933, RefSeq RNA:NM_001146099, RefSeq RNA:NM_002498, RefSeq RNA:NM_152720, RefSeq RNA:NR_027415, UCSC Genome Browser:NM_002498, UniProtKB:P51956 No chr13 52706779 52733996 52132643 52159861 +PA31548 6787 HGNC:11399 ENSG00000114904 NIMA related kinase 4 NEK4 NIMA-related kinase 4, serine/threonine protein kinase-2 NRK2, STK2, pp12301 Yes No Comparative Toxicogenomics Database:6787, Ensembl:ENSG00000114904, GenAtlas:NEK4, GeneCard:NEK4, HGNC:HGNC:11399, HumanCyc Gene:HS03815, ModBase:P51957, NCBI Gene:6787, OMIM:601959, RefSeq DNA:NT_022517, RefSeq Protein:NP_001180462, RefSeq Protein:NP_003148, RefSeq RNA:NM_001193533, RefSeq RNA:NM_003157, UCSC Genome Browser:NM_003157, UniProtKB:P51957, UniProtKB:Q05DF6 No chr3 52744796 52804965 52707936 52770949 +PA31549 341676 HGNC:7748 ENSG00000197168 NIMA related kinase 5 NEK5 NIMA-related kinase 5 Yes No Ensembl:ENSG00000197168, GenAtlas:NEK5, GeneCard:NEK5, HGNC:HGNC:7748, ModBase:Q6P3R8, NCBI Gene:341676, RefSeq DNA:NT_024524, RefSeq Protein:NP_954983, RefSeq RNA:NM_199289, UniProtKB:Q6P3R8 No chr13 52638898 52703214 52064762 52129092 +PA31550 10783 HGNC:7749 ENSG00000119408 NIMA related kinase 6 NEK6 NIMA-related kinase 6, putative serine-threonine protein kinase SID6-1512 Yes No Comparative Toxicogenomics Database:10783, Ensembl:ENSG00000119408, GenAtlas:NEK6, GeneCard:NEK6, HGNC:HGNC:7749, HumanCyc Gene:HS04294, ModBase:Q9HC98, NCBI Gene:10783, OMIM:604884, RefSeq DNA:NT_008470, RefSeq Protein:NP_001138473, RefSeq Protein:NP_001159639, RefSeq Protein:NP_001159640, RefSeq Protein:NP_001159641, RefSeq Protein:NP_001159642, RefSeq Protein:NP_001159643, RefSeq Protein:NP_055212, RefSeq RNA:NM_001145001, RefSeq RNA:NM_001166167, RefSeq RNA:NM_001166168, RefSeq RNA:NM_001166169, RefSeq RNA:NM_001166170, RefSeq RNA:NM_001166171, RefSeq RNA:NM_014397, UCSC Genome Browser:NM_014397, UniProtKB:B7Z2D9, UniProtKB:Q9HC98 No chr9 127019885 127114721 124257606 124352442 +PA31551 140609 HGNC:13386 ENSG00000151414 NIMA related kinase 7 NEK7 NIMA-related kinase 7 Yes No Comparative Toxicogenomics Database:140609, Ensembl:ENSG00000151414, GenAtlas:NEK7, GeneCard:NEK7, HGNC:HGNC:13386, HumanCyc Gene:HS07733, ModBase:Q8TDX7, NCBI Gene:140609, OMIM:606848, RefSeq DNA:NT_004487, RefSeq Protein:NP_598001, RefSeq RNA:NM_133494, UCSC Genome Browser:NM_133494, UniProtKB:B2R8K8, UniProtKB:Q8TDX7 No chr1 198126108 198291550 198156978 198322420 +PA38361 284086 HGNC:13387 ENSG00000160602 NIMA related kinase 8 NEK8 NIMA-related kinase 8 NPHP9 Yes No Comparative Toxicogenomics Database:284086, Ensembl:ENSG00000160602, GenAtlas:NEK8, GeneCard:NEK8, HGNC:HGNC:13387, ModBase:Q86SG6, NCBI Gene:284086, OMIM:609799, RefSeq DNA:NG_012263, RefSeq DNA:NT_010799, RefSeq Protein:NP_835464, RefSeq RNA:NM_178170, UCSC Genome Browser:NM_178170, UniProtKB:Q86SG6 No chr17 27055822 27069784 28727899 28743457 +PA38593 91754 HGNC:18591 ENSG00000119638 NIMA related kinase 9 NEK9 NIMA-related kinase 9 DKFZp434D0935, MGC16714, NERCC, NERCC1, Nek8 Yes No Comparative Toxicogenomics Database:91754, Ensembl:ENSG00000119638, GenAtlas:NEK9, GeneCard:NEK9, HGNC:HGNC:18591, HumanCyc Gene:HS04314, ModBase:Q8TD19, NCBI Gene:91754, OMIM:609798, RefSeq DNA:NT_026437, RefSeq Protein:NP_149107, RefSeq RNA:NM_033116, UCSC Genome Browser:NM_033116, UniProtKB:Q6PKF2, UniProtKB:Q8TD19 No chr14 75548818 75593778 75082115 75127075 +PA37371 7469 HGNC:12768 ENSG00000185049 negative elongation factor complex member A NELFA NELF-A, WHSC2 Yes No Comparative Toxicogenomics Database:7469, Ensembl:ENSG00000185049, GenAtlas:WHSC2, GeneCard:WHSC2, HGNC:HGNC:12768, ModBase:Q9H3P2, NCBI Gene:7469, OMIM:606026, RefSeq DNA:NG_009232, RefSeq DNA:NT_006051, RefSeq Protein:NP_005654, RefSeq RNA:NM_005663, UCSC Genome Browser:NM_005663, UniProtKB:Q9H3P2 No chr4 1984441 2010962 1982714 2009972 +PA162382703 25920 HGNC:24324 ENSG00000188986 negative elongation factor complex member B NELFB COBRA1, KIAA1182, NELF-B Yes No Ensembl:ENSG00000188986, GeneCard:COBRA1, HGNC:HGNC:24324, ModBase:Q8WX92, NCBI Gene:25920, OMIM:611180, RefSeq DNA:NT_024000, RefSeq Protein:NP_056271, RefSeq RNA:NM_015456, UniProtKB:Q8WX92 No chr9 140149759 140168000 137255300 137273548 +PA38055 51497 HGNC:15934 ENSG00000101158 negative elongation factor complex member C/D NELFCD trihydrophobin 1 HSPC130, NELF-C, NELF-D, TH1, TH1L Yes Yes Comparative Toxicogenomics Database:51497, Ensembl:ENSG00000101158, GenAtlas:TH1L, GeneCard:TH1L, HGNC:HGNC:15934, HumanCyc Gene:HS12438, ModBase:Q9UGN1, NCBI Gene:51497, OMIM:605297, RefSeq DNA:NT_011362, RefSeq Protein:NP_945327, RefSeq RNA:NM_198976, UCSC Genome Browser:NM_016397, UniProtKB:Q8IXH7 No chr20 57556263 57570400 58981208 58995133 +PA134974984 7936 HGNC:13974 ENSG00000204356, ENSG00000206268, ENSG00000206357, ENSG00000229363, ENSG00000231044, ENSG00000233801 negative elongation factor complex member E NELFE D6S45, NELF-E, RD, RDBP, RDP Yes No Comparative Toxicogenomics Database:7936, Ensembl:ENSG00000204356, Ensembl:ENSG00000206268, Ensembl:ENSG00000206357, Ensembl:ENSG00000229363, Ensembl:ENSG00000231044, Ensembl:ENSG00000233801, GeneCard:RDBP, HGNC:HGNC:13974, HumanCyc Gene:HS09776, ModBase:P18615, NCBI Gene:7936, OMIM:154040, RefSeq DNA:NG_000013, RefSeq DNA:NG_004658, RefSeq DNA:NG_005163, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002895, RefSeq RNA:NM_002904, UniProtKB:P18615 No chr6 31919864 31926864 31952087 31959087 +PA31552 4745 HGNC:7750 ENSG00000165973 neural EGFL like 1 NELL1 NEL-like 1 (chicken) FLJ45906, IDH3GL Yes Yes Comparative Toxicogenomics Database:4745, Ensembl:ENSG00000165973, GenAtlas:NELL1, GeneCard:NELL1, HGNC:HGNC:7750, HumanCyc Gene:HS09312, ModBase:Q92832, NCBI Gene:4745, OMIM:602319, RefSeq DNA:NT_009237, RefSeq Protein:NP_006148, RefSeq Protein:NP_963845, RefSeq RNA:NM_006157, RefSeq RNA:NM_201551, UCSC Genome Browser:NM_006157, UniProtKB:B3KXR2, UniProtKB:Q4VB91, UniProtKB:Q92832 No chr11 20691117 21597232 20669551 21575686 +PA31553 4753 HGNC:7751 ENSG00000184613 neural EGFL like 2 NELL2 NEL-like 2 (chicken) NRP2 Yes No Comparative Toxicogenomics Database:4753, Ensembl:ENSG00000184613, GenAtlas:NELL2, GeneCard:NELL2, HGNC:HGNC:7751, ModBase:Q99435, NCBI Gene:4753, OMIM:602320, RefSeq DNA:NT_029419, RefSeq Protein:NP_001138579, RefSeq Protein:NP_001138580, RefSeq Protein:NP_001138581, RefSeq Protein:NP_001138582, RefSeq Protein:NP_006150, RefSeq RNA:NM_001145107, RefSeq RNA:NM_001145108, RefSeq RNA:NM_001145109, RefSeq RNA:NM_001145110, RefSeq RNA:NM_006159, UCSC Genome Browser:NM_006159, UniProtKB:B7Z2U7, UniProtKB:B7Z5Q4, UniProtKB:B7Z625, UniProtKB:B7Z9U3, UniProtKB:Q96JS2, UniProtKB:Q99435 No chr12 44902058 45307711 44508275 44921848 +PA35593 9147 HGNC:10663 ENSG00000165525 nuclear export mediator factor NEMF New-York Colon 1, Ribosome quality control complex subunit NEMF, caliban homolog (Drosophila) FLJ10051, NY-CO-1, RQC2, SDCCAG1 Yes No Comparative Toxicogenomics Database:9147, Ensembl:ENSG00000165525, GenAtlas:SDCCAG1, GeneCard:SDCCAG1, HGNC:HGNC:10663, HumanCyc Gene:HS15338, ModBase:O60524, NCBI Gene:9147, OMIM:608378, RefSeq DNA:NT_026437, RefSeq Protein:NP_004704, RefSeq RNA:NM_004713, UCSC Genome Browser:NM_004713, UniProtKB:B3KSK1 No chr14 50250528 50319763 49782083 49853073 +PA162406290 23306 HGNC:29001 ENSG00000166881 nuclear envelope integral membrane protein 1 NEMP1 transmembrane protein 194A KIAA0286, TMEM194, TMEM194A Yes No Ensembl:ENSG00000166881, GeneCard:TMEM194A, HGNC:HGNC:29001, NCBI Gene:23306, RefSeq DNA:NT_029419, RefSeq Protein:NP_001124435, RefSeq Protein:NP_056072, RefSeq RNA:NM_001130963, RefSeq RNA:NM_015257, UniProtKB:O14524 No chr12 57449426 57472574 57055643 57088703 +PA162406311 100131211 HGNC:33700 ENSG00000189362 nuclear envelope integral membrane protein 2 NEMP2 transmembrane protein 194B TMEM194B Yes No Ensembl:ENSG00000189362, GeneCard:TMEM194B, HGNC:HGNC:33700, ModBase:A6NFY4, NCBI Gene:100131211, RefSeq DNA:NT_005403, RefSeq Protein:NP_001136117, RefSeq RNA:NM_001142645, UniProtKB:A6NFY4 No chr2 191371619 191399468 190454088 190607126 +PA142671266 29937 HGNC:30384 ENSG00000117691 neudesin neurotrophic factor NENF neudesin CIR2, SCIRP10, SPUF Yes No Ensembl:ENSG00000117691, GeneCard:NENF, HGNC:HGNC:30384, HumanCyc Gene:HS04166, ModBase:Q9UMX5, NCBI Gene:29937, OMIM:611874, RefSeq DNA:NT_167186, RefSeq Protein:NP_037481, RefSeq RNA:NM_013349, RefSeq RNA:NR_026598, UniProtKB:Q9UMX5 No chr1 212606229 212619721 212432887 212446379 +PA31555 4756 HGNC:7754 ENSG00000067141 neogenin 1 NEO1 immunoglobulin superfamily, DCC subclass, member 2 HsT17534, IGDCC2, NGN, NTN1R2 Yes No Comparative Toxicogenomics Database:4756, Ensembl:ENSG00000067141, GenAtlas:NEO1, GeneCard:NEO1, HGNC:HGNC:7754, HumanCyc Gene:HS00899, ModBase:Q92859, NCBI Gene:4756, OMIM:601907, RefSeq DNA:NG_016965, RefSeq DNA:NT_010194, RefSeq Protein:NP_001166094, RefSeq Protein:NP_001166095, RefSeq Protein:NP_002490, RefSeq RNA:NM_001172623, RefSeq RNA:NM_001172624, RefSeq RNA:NM_002499, UCSC Genome Browser:NM_002499, UniProtKB:B7ZKM9, UniProtKB:B7ZKN0, UniProtKB:Q59FP8, UniProtKB:Q92859 No chr15 73344056 73597547 73051715 73305206 +PA134948355 25871 HGNC:24496 ENSG00000163608 nucleolus and neural progenitor protein NEPRO chromosome 3 open reading frame 17 C3orf17, DKFZP434F2021, NET17 Yes No Ensembl:ENSG00000163608, GeneCard:C3orf17, HGNC:HGNC:24496, HumanCyc Gene:HS15086, ModBase:Q6NW34, NCBI Gene:25871, RefSeq DNA:NT_005612, RefSeq Protein:NP_001020243, RefSeq Protein:NP_001020244, RefSeq Protein:NP_056227, RefSeq RNA:NM_001025072, RefSeq RNA:NM_001025073, RefSeq RNA:NM_015412, RefSeq RNA:NR_027794, RefSeq RNA:NR_027796, UniProtKB:Q6NW34 No chr3 112721291 112738555 113002444 113019733 +PA31556 10763 HGNC:7756 ENSG00000132688 nestin NES FLJ21841 Yes No Comparative Toxicogenomics Database:10763, Ensembl:ENSG00000132688, GenAtlas:NES, GeneCard:NES, HGNC:HGNC:7756, ModBase:P48681, NCBI Gene:10763, OMIM:600915, RefSeq DNA:NG_012300, RefSeq DNA:NT_004487, RefSeq Protein:NP_006608, RefSeq RNA:NM_006617, UniProtKB:P48681, UniProtKB:Q9H6U9 No chr1 156638555 156647189 156668763 156677397 +PA164742175 10276 HGNC:14592 ENSG00000173848 neuroepithelial cell transforming 1 NET1 ARHGEF8, NET1A Yes No Ensembl:ENSG00000173848, HGNC:HGNC:14592, ModBase:Q7Z628, NCBI Gene:10276, OMIM:606450, RefSeq DNA:NT_008705, RefSeq DNA:NT_077567, RefSeq Protein:NP_001040625, RefSeq Protein:NP_005854, RefSeq RNA:NM_001047160, RefSeq RNA:NM_005863, UniProtKB:Q7Z628 No chr10 5454514 5501019 5412551 5459056 +PA31558 81832 HGNC:13823 ENSG00000166342 neuropilin and tolloid like 1 NETO1 neuropilin (NRP) and tolloid (TLL)-like 1 BCTL1, BTCL1 Yes No Comparative Toxicogenomics Database:81832, Ensembl:ENSG00000166342, GenAtlas:NETO1, GeneCard:NETO1, HGNC:HGNC:13823, HumanCyc Gene:HS15430, ModBase:Q8TDF5, NCBI Gene:81832, OMIM:607973, RefSeq DNA:NT_025028, RefSeq Protein:NP_001188394, RefSeq Protein:NP_620416, RefSeq Protein:NP_620552, RefSeq Protein:NP_694821, RefSeq RNA:NM_001201465, RefSeq RNA:NM_138966, RefSeq RNA:NM_138999, RefSeq RNA:NM_153181, UCSC Genome Browser:NM_138966, UniProtKB:Q8TDF5 No chr18 70409549 70534828 72742314 72867667 +PA31559 81831 HGNC:14644 ENSG00000171208 neuropilin and tolloid like 2 NETO2 neuropilin (NRP) and tolloid (TLL)-like 2 FLJ10430, NEOT2 Yes No Ensembl:ENSG00000171208, GenAtlas:NETO2, GeneCard:NETO2, HGNC:HGNC:14644, HumanCyc Gene:HS15964, ModBase:Q8NC67, NCBI Gene:81831, OMIM:607974, RefSeq DNA:NT_010498, RefSeq Protein:NP_001188406, RefSeq Protein:NP_060562, RefSeq RNA:NM_001201477, RefSeq RNA:NM_018092, UCSC Genome Browser:NM_018092, UniProtKB:Q8NC67 No chr16 47115431 47177936 47081520 47144025 +PA31560 4758 HGNC:7758 ENSG00000184494, ENSG00000204386, ENSG00000223957, ENSG00000227129, ENSG00000227315, ENSG00000228691, ENSG00000234343, ENSG00000234846 neuraminidase 1 NEU1 sialidase 1 (lysosomal sialidase), sialidase-1 NEU Yes No Comparative Toxicogenomics Database:4758, Ensembl:ENSG00000184494, Ensembl:ENSG00000204386, Ensembl:ENSG00000223957, Ensembl:ENSG00000227129, Ensembl:ENSG00000227315, Ensembl:ENSG00000228691, Ensembl:ENSG00000234343, Ensembl:ENSG00000234846, GenAtlas:NEU1, GeneCard:NEU1, HGNC:HGNC:7758, ModBase:Q99519, NCBI Gene:4758, OMIM:256550, OMIM:608272, RefSeq DNA:NG_008201, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_000425, RefSeq RNA:NM_000434, UCSC Genome Browser:NM_000434, UniProtKB:Q5JQI0, UniProtKB:Q99519 No chr6 31826829 31830709 31859052 31862932 +PA31561 4759 HGNC:7759 ENSG00000115488 neuraminidase 2 NEU2 N-acetyl-alpha-neuraminidase 2, sialidase 2 (cytosolic sialidase) SIAL2 Yes Yes Comparative Toxicogenomics Database:4759, Ensembl:ENSG00000115488, GenAtlas:NEU2, GeneCard:NEU2, HGNC:HGNC:7759, HumanCyc Gene:HS03898, ModBase:Q9Y3R4, NCBI Gene:4759, OMIM:605528, RefSeq DNA:NT_005403, RefSeq Protein:NP_005374, RefSeq RNA:NM_005383, UCSC Genome Browser:NM_005383, UniProtKB:Q9Y3R4 No chr2 233897382 233899767 233032672 233035057 +PA31562 10825 HGNC:7760 ENSG00000162139 neuraminidase 3 NEU3 sialidase 3 (membrane sialidase) Yes Yes Comparative Toxicogenomics Database:10825, Ensembl:ENSG00000162139, GenAtlas:NEU3, GeneCard:NEU3, HGNC:HGNC:7760, HumanCyc Gene:HS08646, ModBase:Q9UQ49, NCBI Gene:10825, OMIM:604617, RefSeq DNA:NT_167190, RefSeq Protein:NP_006647, RefSeq RNA:NM_006656, UCSC Genome Browser:NM_006656, UniProtKB:A8K327 No chr11 74699950 74718743 74988905 75007698 +PA134917116 129807 HGNC:21328 ENSG00000204099 neuraminidase 4 NEU4 sialidase 4 Yes No Ensembl:ENSG00000204099, GeneCard:NEU4, HGNC:HGNC:21328, HumanCyc Gene:HS07964, HumanCyc Gene:HS11296, ModBase:Q8WWR8, NCBI Gene:129807, OMIM:608527, RefSeq DNA:NT_005416, RefSeq Protein:NP_001161071, RefSeq Protein:NP_001161072, RefSeq Protein:NP_001161073, RefSeq Protein:NP_001161074, RefSeq Protein:NP_542779, RefSeq RNA:NM_001167599, RefSeq RNA:NM_001167600, RefSeq RNA:NM_001167601, RefSeq RNA:NM_001167602, RefSeq RNA:NM_080741, UniProtKB:B3KR54, UniProtKB:Q8WWR8 No chr2 242749920 242758742 241809065 241817413 +PA31563 9148 HGNC:7761 ENSG00000107954 neuralized E3 ubiquitin protein ligase 1 NEURL1 neuralized homolog (Drosophila) NEURL, NEURL1, RNF67, h-neu, neu-1 Yes No Comparative Toxicogenomics Database:9148, Ensembl:ENSG00000107954, GenAtlas:NEURL, GeneCard:NEURL, HGNC:HGNC:7761, HumanCyc Gene:HS03049, ModBase:O76050, NCBI Gene:9148, OMIM:603804, RefSeq DNA:NT_030059, RefSeq Protein:NP_004201, RefSeq RNA:NM_004210, UCSC Genome Browser:NM_004210, UniProtKB:B4DS86, UniProtKB:O76050 No chr10 105253735 105352309 103493890 103592552 +PA164723819 54492 HGNC:35422 ENSG00000214357 neuralized E3 ubiquitin protein ligase 1B NEURL1B neuralized homolog 1B (Drosophila) DKFZP761M1511, Neur2, RNF67B Yes No Ensembl:ENSG00000214357, GeneCard:NEURL1B, HGNC:HGNC:35422, NCBI Gene:54492, RefSeq DNA:NT_023133, RefSeq Protein:NP_001136123, RefSeq RNA:NM_001142651, UniProtKB:A8MQ27, UniProtKB:C9DQJ5 No chr5 172068266 172118543 172641266 172691540 +PA25705 140825 HGNC:16156 ENSG00000124257 neuralized E3 ubiquitin protein ligase 2 NEURL2 neuralized homolog 2 (Drosophila) C20orf163, FLJ30259, Ozz, Ozz-E3, dJ337O18.6 Yes No Comparative Toxicogenomics Database:140825, Ensembl:ENSG00000124257, GenAtlas:NEURL2, GeneCard:NEURL2, HGNC:HGNC:16156, HumanCyc Gene:HS04754, ModBase:Q9BR09, NCBI Gene:140825, OMIM:608597, RefSeq DNA:NT_011362, RefSeq Protein:NP_542787, RefSeq RNA:NM_080749, UCSC Genome Browser:NM_080749, UniProtKB:Q9BR09 No chr20 44517111 44519926 45888472 45891287 +PA166123707 93082 HGNC:25162 ENSG00000163121 neuralized E3 ubiquitin protein ligase 3 NEURL3 LOC93082, Lincr, RNF132 Yes No Ensembl:ENSG00000163121, HGNC:HGNC:25162, NCBI Gene:93082 No chr2 +PA164723835 84461 HGNC:34410 ENSG00000215041 neuralized E3 ubiquitin protein ligase 4 NEURL4 neuralized homolog 4 (Drosophila) KIAA1787 Yes No Ensembl:ENSG00000215041, GeneCard:NEURL4, HGNC:HGNC:34410, NCBI Gene:84461, RefSeq DNA:NT_010718, RefSeq Protein:NP_001005408, RefSeq Protein:NP_115818, RefSeq RNA:NM_001005408, RefSeq RNA:NM_032442, UniProtKB:Q96JN8 No chr17 7218947 7232644 7315632 7329319 +PA31564 4760 HGNC:7762 ENSG00000162992 neuronal differentiation 1 NEUROD1 NEUROD, beta-cell E-box transactivator 2, neurogenic helix-loop-helix protein NEUROD BETA2, BHF-1, MODY6, NeuroD, bHLHa3 Yes Yes Comparative Toxicogenomics Database:4760, Ensembl:ENSG00000162992, GenAtlas:NEUROD1, GeneCard:NEUROD1, HGNC:HGNC:7762, HumanCyc Gene:HS08769, ModBase:Q13562, NCBI Gene:4760, OMIM:125853, OMIM:601724, OMIM:606394, RefSeq DNA:NG_011820, RefSeq DNA:NT_005403, RefSeq Protein:NP_002491, RefSeq RNA:NM_002500, UCSC Genome Browser:NM_002500, UniProtKB:Q13562 No chr2 182540833 182545392 181676106 181680665 +PA31565 4761 HGNC:7763 ENSG00000171532 neuronal differentiation 2 NEUROD2 NeuroD-related factor NDRF, bHLHa1 Yes No Comparative Toxicogenomics Database:4761, Ensembl:ENSG00000171532, GenAtlas:NEUROD2, GeneCard:NEUROD2, HGNC:HGNC:7763, HumanCyc Gene:HS10335, ModBase:Q15784, NCBI Gene:4761, OMIM:601725, RefSeq DNA:NT_010783, RefSeq Protein:NP_006151, RefSeq RNA:NM_006160, UCSC Genome Browser:NM_006160, UniProtKB:Q15784 No chr17 37760021 37764175 39603768 39607922 +PA31566 58158 HGNC:13802 ENSG00000123307 neuronal differentiation 4 NEUROD4 ATH-3, Atoh3, MATH-3, bHLHa4 Yes No Comparative Toxicogenomics Database:58158, Ensembl:ENSG00000123307, GenAtlas:NEUROD4, GeneCard:NEUROD4, HGNC:HGNC:13802, HumanCyc Gene:HS04646, ModBase:Q9HD90, NCBI Gene:58158, OMIM:611635, RefSeq DNA:NT_029419, RefSeq Protein:NP_067014, RefSeq RNA:NM_021191, UCSC Genome Browser:NM_021191, UniProtKB:Q8IW56, UniProtKB:Q9HD90 No chr12 55413729 55423801 55019945 55030017 +PA31568 63974 HGNC:13804 ENSG00000164600 neuronal differentiation 6 NEUROD6 Atoh2, Math-2, NEX1M, Nex1, bHLHa2 Yes No Comparative Toxicogenomics Database:63974, Ensembl:ENSG00000164600, GenAtlas:NEUROD6, GeneCard:NEUROD6, HGNC:HGNC:13804, HumanCyc Gene:HS09099, ModBase:Q96NK8, NCBI Gene:63974, OMIM:611513, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_073565, RefSeq RNA:NM_022728, UCSC Genome Browser:NM_022728, UniProtKB:Q548T9, UniProtKB:Q96NK8 No chr7 31377075 31380538 31337461 31340924 +PA31569 4762 HGNC:7764 ENSG00000181965 neurogenin 1 NEUROG1 neurogenic differentiation 3 AKA, Math4C, NEUROD3, bHLHa6, ngn1 Yes No Ensembl:ENSG00000181965, GenAtlas:NEUROG1, GeneCard:NEUROG1, HGNC:HGNC:7764, HumanCyc Gene:HS11691, ModBase:Q92886, NCBI Gene:4762, OMIM:601726, RefSeq DNA:NT_034772, RefSeq Protein:NP_006152, RefSeq RNA:NM_006161, UCSC Genome Browser:NM_006161, UniProtKB:Q92886 No chr5 134869972 134871639 135534282 135535949 +PA31570 63973 HGNC:13805 ENSG00000178403 neurogenin 2 NEUROG2 Atoh4, Math4A, NGN2, bHLHa8, ngn-2 Yes No Comparative Toxicogenomics Database:63973, Ensembl:ENSG00000178403, GenAtlas:NEUROG2, GeneCard:NEUROG2, HGNC:HGNC:13805, HumanCyc Gene:HS11286, ModBase:Q9H2A3, NCBI Gene:63973, OMIM:606624, RefSeq DNA:NT_016354, RefSeq Protein:NP_076924, RefSeq RNA:NM_024019, UCSC Genome Browser:NM_024019, UniProtKB:Q9H2A3 No chr4 113434672 113437328 112513516 112516172 +PA31571 50674 HGNC:13806 ENSG00000122859 neurogenin 3 NEUROG3 Atoh5, Math4B, bHLHa7, ngn3 Yes No Comparative Toxicogenomics Database:50674, Ensembl:ENSG00000122859, GenAtlas:NEUROG3, GeneCard:NEUROG3, HGNC:HGNC:13806, HumanCyc Gene:HS04607, ModBase:Q9Y4Z2, NCBI Gene:50674, OMIM:604882, OMIM:610370, RefSeq DNA:NG_021321, RefSeq DNA:NT_030059, RefSeq Protein:NP_066279, RefSeq RNA:NM_020999, UCSC Genome Browser:NM_020999, UniProtKB:Q9Y4Z2 No chr10 71331791 71333210 69571440 69573454 +PA162393214 340533 HGNC:29433 ENSG00000050030 neurite extension and migration factor NEXMIF XLMR-related protein, neurite extension KIAA2022, KIDLIA, MRX98, XPN Yes No Ensembl:ENSG00000050030, GeneCard:KIAA2022, HGNC:HGNC:29433, ModBase:Q5QGS0, NCBI Gene:340533, OMIM:300524, RefSeq DNA:NT_011669, RefSeq Protein:NP_001008537, RefSeq RNA:NM_001008537, UniProtKB:Q5QGS0 No chrX 73952691 74145287 74732856 74925452 +PA134974801 91624 HGNC:29557 ENSG00000162614 nexilin F-actin binding protein NEXN nexilin (F actin binding protein) NELIN, nexilin Yes No Comparative Toxicogenomics Database:91624, Ensembl:ENSG00000162614, GeneCard:NEXN, HGNC:HGNC:29557, HumanCyc Gene:HS08704, ModBase:Q9Y2V1, NCBI Gene:91624, OMIM:613121, OMIM:613122, RefSeq DNA:NG_016625, RefSeq DNA:NT_032977, RefSeq Protein:NP_001165780, RefSeq Protein:NP_653174, RefSeq RNA:NM_001172309, RefSeq RNA:NM_144573, UniProtKB:B4DDI0, UniProtKB:B4DPZ7, UniProtKB:Q0ZGT2 No chr1 78354200 78412009 77888515 77946329 +PA142672502 374987 HGNC:31983 ENSG00000235927 NEXN antisense RNA 1 NEXN-AS1 FLJ90637 Yes No Ensembl:ENSG00000235927, GeneCard:NEXN-AS1, HGNC:HGNC:31983, NCBI Gene:374987, RefSeq DNA:NT_032977, RefSeq RNA:XR_041257, RefSeq RNA:XR_041258, RefSeq RNA:XR_041259, RefSeq RNA:XR_110470 No chr1 78347033 78357449 77881348 77889539 +PA31572 4763 HGNC:7765 ENSG00000196712 neurofibromin 1 NF1 Watson disease, neurofibromatosis, von Recklinghausen disease Yes No Comparative Toxicogenomics Database:4763, Ensembl:ENSG00000196712, GenAtlas:NF1, GeneCard:NF1, HGNC:HGNC:7765, ModBase:P21359, NCBI Gene:4763, OMIM:162200, OMIM:162210, OMIM:193520, OMIM:601321, OMIM:607785, OMIM:613113, RefSeq DNA:NG_009018, RefSeq DNA:NT_010799, RefSeq Protein:NP_000258, RefSeq Protein:NP_001035957, RefSeq Protein:NP_001121619, RefSeq RNA:NM_000267, RefSeq RNA:NM_001042492, RefSeq RNA:NM_001128147, UCSC Genome Browser:NM_000267, UniProtKB:P21359 No chr17 29421945 29704695 31094927 31377677 +PA31579 440225 HGNC:38664 ENSG00000258997 neurofibromin 1 pseudogene 2 NF1P2 Yes No Ensembl:ENSG00000258997, GenAtlas:NF1P1, GeneCard:NF1P1, HGNC:HGNC:38664, NCBI Gene:440225, RefSeq DNA:NG_005158, RefSeq DNA:NT_037852, RefSeq RNA:NR_028506 No chr15 22133181 22145802 21927657 21940278 +PA31573 4764 HGNC:7766 ENSG00000183249 neurofibromin 1 pseudogene 3 NF1P3 Yes No Ensembl:ENSG00000183249, GenAtlas:NF1L1, GeneCard:NF1P3, HGNC:HGNC:7766, NCBI Gene:4764, RefSeq DNA:NG_009867, RefSeq DNA:NT_011512 No chr21 15373246 15377600 14000925 14005279 +PA31576 100419029 HGNC:7769 ENSG00000258027 neurofibromin 1 pseudogene 4 NF1P4 Yes No Ensembl:ENSG00000258027, GenAtlas:NF1L4, GeneCard:NF1L4, HGNC:HGNC:7769, NCBI Gene:100419029, RefSeq DNA:NG_007891, RefSeq DNA:NT_026437 No chr14 19484443 19495427 19492279 19501728 +PA31577 4768 HGNC:7770 ENSG00000175319 neurofibromin 1 pseudogene 5 NF1P5 Yes No Ensembl:ENSG00000175319, GenAtlas:NF1L5, GeneCard:NF1P5, HGNC:HGNC:7770, NCBI Gene:4768, RefSeq DNA:NG_007889, RefSeq DNA:NT_010859 No chr18 14152996 14157343 14152997 14157344 +PA31578 644637 HGNC:7771 ENSG00000224435 neurofibromin 1 pseudogene 6 NF1P6 Em:AP000532.C22.1 Yes No Ensembl:ENSG00000224435, GenAtlas:NF1L6, GeneCard:NF1P6, HGNC:HGNC:7771, NCBI Gene:644637, RefSeq DNA:NG_007890, RefSeq DNA:NT_028395 No chr22 16345913 16355362 15622601 15632050 +PA31574 401007 HGNC:7767 ENSG00000236956 neurofibromin 1 pseudogene 8 NF1P8 Yes No Ensembl:ENSG00000236956, GenAtlas:NF1L2, GeneCard:NF1P8, HGNC:HGNC:7767, NCBI Gene:401007, RefSeq DNA:NG_007888, RefSeq DNA:NT_022135 No chr2 131946021 131955578 131188448 131198005 +PA31580 4771 HGNC:7773 ENSG00000186575 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor NF2 bilateral acoustic neurofibromatosis, moesin-ezrin-radixin like, neurofibromin 2, neurofibromin 2 (merlin), schwannomin ACN, BANF, SCH, merlin, merlin-1 Yes No Comparative Toxicogenomics Database:4771, Ensembl:ENSG00000186575, GenAtlas:NF2, GeneCard:NF2, HGNC:HGNC:7773, HumanCyc Gene:HS02036, ModBase:Q96T33, NCBI Gene:4771, OMIM:101000, OMIM:162091, OMIM:607174, OMIM:607379, RefSeq DNA:NG_009057, RefSeq DNA:NT_011520, RefSeq Protein:NP_000259, RefSeq Protein:NP_057502, RefSeq Protein:NP_861546, RefSeq Protein:NP_861966, RefSeq Protein:NP_861967, RefSeq Protein:NP_861968, RefSeq Protein:NP_861969, RefSeq Protein:NP_861970, RefSeq Protein:NP_861971, RefSeq RNA:NM_000268, RefSeq RNA:NM_016418, RefSeq RNA:NM_181825, RefSeq RNA:NM_181828, RefSeq RNA:NM_181829, RefSeq RNA:NM_181830, RefSeq RNA:NM_181831, RefSeq RNA:NM_181832, RefSeq RNA:NM_181833, UCSC Genome Browser:NM_000268, UniProtKB:P35240 No chr22 29999545 30094589 29603556 29698600 +PA134949664 150372 HGNC:29872 ENSG00000235568 NFAT activating protein with ITAM motif 1 NFAM1 CNAIP Yes No Ensembl:ENSG00000235568, GeneCard:NFAM1, HGNC:HGNC:29872, HumanCyc Gene:HS15516, ModBase:Q8NET5, NCBI Gene:150372, OMIM:608740, RefSeq DNA:NT_011520, RefSeq Protein:NP_666017, RefSeq RNA:NM_145912, UniProtKB:Q8NET5 No chr22 42776413 42833086 42380407 42438155 +PA128395771 23114 HGNC:29866 ENSG00000163531 neurofascin NFASC FLJ46866, KIAA0756, NF, NRCAML Yes No Ensembl:ENSG00000163531, GeneCard:NFASC, HGNC:HGNC:29866, ModBase:Q6ZQV6, NCBI Gene:23114, OMIM:609145, RefSeq DNA:NT_004487, RefSeq Protein:NP_001005388, RefSeq Protein:NP_001005389, RefSeq Protein:NP_001153803, RefSeq Protein:NP_001153804, RefSeq Protein:NP_001153805, RefSeq Protein:NP_055905, RefSeq RNA:NM_001005388, RefSeq RNA:NM_001005389, RefSeq RNA:NM_001160331, RefSeq RNA:NM_001160332, RefSeq RNA:NM_001160333, RefSeq RNA:NM_015090, UniProtKB:B4DRH7, UniProtKB:O94856 No chr1 204797782 204991950 204828652 205022822 +PA31581 10725 HGNC:7774 ENSG00000102908 nuclear factor of activated T cells 5 NFAT5 """nuclear factor of activated T-cells 5, tonicity-responsive"", ""tonicity-responsive enhancer binding protein""" KIAA0827, NF-AT5, NFATL1, NFATZ, OREBP, TONEBP Yes No Comparative Toxicogenomics Database:10725, Ensembl:ENSG00000102908, GenAtlas:NFAT5, GeneCard:NFAT5, HGNC:HGNC:7774, HumanCyc Gene:HS02427, HumanCyc Gene:HS11642, ModBase:O94916, NCBI Gene:10725, OMIM:604708, RefSeq DNA:NT_010498, RefSeq Protein:NP_001106649, RefSeq Protein:NP_006590, RefSeq Protein:NP_619727, RefSeq Protein:NP_619728, RefSeq Protein:NP_775321, RefSeq RNA:NM_001113178, RefSeq RNA:NM_006599, RefSeq RNA:NM_138713, RefSeq RNA:NM_138714, RefSeq RNA:NM_173214, UCSC Genome Browser:NM_006599, UniProtKB:A2RRB4, UniProtKB:O94916, UniProtKB:Q7LA65, UniProtKB:Q96QH3 No chr16 69599869 69738569 69565952 69704666 +PA31582 4772 HGNC:7775 ENSG00000131196 nuclear factor of activated T cells 1 NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NF-ATC, NFAT2, NFATc Yes Yes Comparative Toxicogenomics Database:4772, Ensembl:ENSG00000131196, GenAtlas:NFATC1, GeneCard:NFATC1, HGNC:HGNC:7775, HumanCyc Gene:HS05501, ModBase:O95644, NCBI Gene:4772, OMIM:600489, RefSeq DNA:NT_025028, RefSeq Protein:NP_006153, RefSeq Protein:NP_765975, RefSeq Protein:NP_765976, RefSeq Protein:NP_765977, RefSeq Protein:NP_765978, RefSeq RNA:NM_006162, RefSeq RNA:NM_172387, RefSeq RNA:NM_172388, RefSeq RNA:NM_172389, RefSeq RNA:NM_172390, UCSC Genome Browser:NM_006162, UniProtKB:B5B2M5, UniProtKB:B5B2M8, UniProtKB:B5B2M9, UniProtKB:O95644, UniProtKB:Q2M1S3 No chr18 77155772 77289323 79395772 79529323 +PA31583 4773 HGNC:7776 ENSG00000101096 nuclear factor of activated T cells 2 NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 NF-ATP, NFAT1, NFATp Yes Yes Comparative Toxicogenomics Database:4773, Ensembl:ENSG00000101096, GenAtlas:NFATC2, GeneCard:NFATC2, HGNC:HGNC:7776, HumanCyc Gene:HS02192, ModBase:Q13469, NCBI Gene:4773, OMIM:600490, RefSeq DNA:NT_011362, RefSeq Protein:NP_001129493, RefSeq Protein:NP_036472, RefSeq Protein:NP_775114, RefSeq RNA:NM_001136021, RefSeq RNA:NM_012340, RefSeq RNA:NM_173091, UCSC Genome Browser:NM_012340, UniProtKB:B5B2N8, UniProtKB:B5B2N9, UniProtKB:B5B2P3, UniProtKB:Q13469 No chr20 50003494 50179370 51386957 51562857 +PA134887712 84901 HGNC:25906 ENSG00000176953 nuclear factor of activated T cells 2 interacting protein NFATC2IP nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein ESC2, FLJ14639, NIP45, RAD60 Yes No Comparative Toxicogenomics Database:84901, Ensembl:ENSG00000176953, GeneCard:NFATC2IP, HGNC:HGNC:25906, ModBase:Q8NCF5, NCBI Gene:84901, RefSeq DNA:NT_010393, RefSeq Protein:NP_116204, RefSeq RNA:NM_032815, UniProtKB:Q8NCF5 No chr16 28962318 28977786 28950988 28967097 +PA247 4775 HGNC:7777 ENSG00000072736 nuclear factor of activated T cells 3 NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 NFAT4, NFATX, n339260 Yes No Comparative Toxicogenomics Database:4775, Ensembl:ENSG00000072736, GenAtlas:NFATC3, GeneCard:NFATC3, HGNC:HGNC:7777, HumanCyc Gene:HS01079, ModBase:Q12968, NCBI Gene:4775, OMIM:602698, RefSeq DNA:NT_010498, RefSeq Protein:NP_004546, RefSeq Protein:NP_775186, RefSeq Protein:NP_775187, RefSeq Protein:NP_775188, RefSeq RNA:NM_004555, RefSeq RNA:NM_173163, RefSeq RNA:NM_173164, RefSeq RNA:NM_173165, UCSC Genome Browser:NM_004555, UniProtKB:B5B2S0, UniProtKB:B5B2S1, UniProtKB:B5B2S2, UniProtKB:Q12968 No chr16 68118654 68263162 68085366 68229259 +PA31584 4776 HGNC:7778 ENSG00000100968 nuclear factor of activated T cells 4 NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 NFAT3 Yes Yes Comparative Toxicogenomics Database:4776, Ensembl:ENSG00000100968, GenAtlas:NFATC4, GeneCard:NFATC4, HGNC:HGNC:7778, HumanCyc Gene:HS02172, ModBase:B5B2W9, NCBI Gene:4776, OMIM:602699, RefSeq DNA:NT_026437, RefSeq Protein:NP_001129494, RefSeq Protein:NP_001185894, RefSeq Protein:NP_001185895, RefSeq Protein:NP_001185896, RefSeq Protein:NP_004545, RefSeq RNA:NM_001136022, RefSeq RNA:NM_001198965, RefSeq RNA:NM_001198966, RefSeq RNA:NM_001198967, RefSeq RNA:NM_004554, UCSC Genome Browser:NM_004554, UniProtKB:Q14934 No chr14 24834885 24848810 24366911 24379604 +PA31586 4778 HGNC:7780 ENSG00000123405 nuclear factor, erythroid 2 NFE2 nuclear factor (erythroid-derived 2), 45kDa NF-E2 Yes No Ensembl:ENSG00000123405, GenAtlas:NFE2, GeneCard:NFE2, HGNC:HGNC:7780, HumanCyc Gene:HS04655, ModBase:Q16621, NCBI Gene:4778, OMIM:601490, RefSeq DNA:NT_029419, RefSeq Protein:NP_001129495, RefSeq Protein:NP_006154, RefSeq RNA:NM_001136023, RefSeq RNA:NM_006163, UCSC Genome Browser:NM_006163, UniProtKB:A8K3E0, UniProtKB:Q16621 No chr12 54685891 54718869 54292107 54301037 +PA31587 4779 HGNC:7781 ENSG00000082641 NFE2 like bZIP transcription factor 1 NFE2L1 """locus control region-factor 1"", ""nuclear factor (erythroid-derived 2)-like 1"", ""nuclear factor erythroid 2-related factor 1"", ""nuclear factor, erythroid 2 like 1"", ""nuclear factor, erythroid 2-like 1"", ""transcription factor 11""" FLJ00380, LCR-F1, NRF-1, NRF1, TCF11 Yes No Comparative Toxicogenomics Database:4779, Ensembl:ENSG00000082641, GenAtlas:NFE2L1, GeneCard:NFE2L1, HGNC:HGNC:7781, HumanCyc Gene:HS01427, ModBase:Q14494, NCBI Gene:4779, OMIM:163260, RefSeq DNA:NT_010783, RefSeq Protein:NP_003195, RefSeq RNA:NM_003204, UCSC Genome Browser:NM_003204, UniProtKB:Q14494, UniProtKB:Q8NF22 No chr17 46125686 46138907 48048324 48061545 +PA31588 4780 HGNC:7782 ENSG00000116044 NFE2 like bZIP transcription factor 2 NFE2L2 """NF-E2-related factor 2"", ""nuclear factor (erythroid-derived 2)-like 2"", ""nuclear factor, erythroid 2 like 2"", ""nuclear factor, erythroid 2-like 2""" NRF-2, NRF2 Yes Yes Comparative Toxicogenomics Database:4780, Ensembl:ENSG00000116044, GenAtlas:NFE2L2, GeneCard:NFE2L2, HGNC:HGNC:7782, HumanCyc Gene:HS03976, ModBase:Q16236, NCBI Gene:4780, OMIM:600492, RefSeq DNA:NT_005403, RefSeq Protein:NP_001138884, RefSeq Protein:NP_001138885, RefSeq Protein:NP_006155, RefSeq RNA:NM_001145412, RefSeq RNA:NM_001145413, RefSeq RNA:NM_006164, UCSC Genome Browser:NM_006164, UniProtKB:B4E338, UniProtKB:Q16236 No chr2 178095031 178129859 177230303 177265131 +PA31589 9603 HGNC:7783 ENSG00000050344 NFE2 like bZIP transcription factor 3 NFE2L3 """nuclear factor (erythroid-derived 2)-like 3"", ""nuclear factor, erythroid 2 like 3"", ""nuclear factor, erythroid 2-like 3""" Nrf3 Yes No Ensembl:ENSG00000050344, GenAtlas:NFE2L3, GeneCard:NFE2L3, HGNC:HGNC:7783, HumanCyc Gene:HS00632, ModBase:Q9Y4A8, NCBI Gene:9603, OMIM:604135, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_004280, RefSeq RNA:NM_004289, UCSC Genome Browser:NM_004289, UniProtKB:Q9Y4A8 No chr7 26191847 26226757 26152227 26187137 +PA166123708 58160 HGNC:29902 ENSG00000230257 nuclear factor, erythroid 4 NFE4 NF-E4 Yes No Ensembl:ENSG00000230257, HGNC:HGNC:29902, NCBI Gene:58160 No +PA31590 4774 HGNC:7784 ENSG00000162599 nuclear factor I A NFIA nuclear factor I/A KIAA1439, NFI-L Yes No Comparative Toxicogenomics Database:4774, Ensembl:ENSG00000162599, GenAtlas:NFIA, GeneCard:NFIA, HGNC:HGNC:7784, HumanCyc Gene:HS08699, NCBI Gene:4774, OMIM:600727, RefSeq DNA:NG_011787, RefSeq DNA:NT_032977, RefSeq Protein:NP_001128145, RefSeq Protein:NP_001138983, RefSeq Protein:NP_001138984, RefSeq Protein:NP_005586, RefSeq RNA:NM_001134673, RefSeq RNA:NM_001145511, RefSeq RNA:NM_001145512, RefSeq RNA:NM_005595, UCSC Genome Browser:NM_005595, UniProtKB:B4DRJ3, UniProtKB:B4DS53, UniProtKB:Q12857 No chr1 61542946 61928460 61077124 61462788 +PA31591 4781 HGNC:7785 ENSG00000147862 nuclear factor I B NFIB nuclear factor I/B NFI-RED, NFIB2, NFIB3 Yes Yes Comparative Toxicogenomics Database:4781, Ensembl:ENSG00000147862, GenAtlas:NFIB, GeneCard:NFIB, HGNC:HGNC:7785, HumanCyc Gene:HS07474, ModBase:O00712, NCBI Gene:4781, OMIM:600728, RefSeq DNA:NT_008413, RefSeq Protein:NP_001177666, RefSeq Protein:NP_001177667, RefSeq Protein:NP_005587, RefSeq RNA:NM_001190737, RefSeq RNA:NM_001190738, RefSeq RNA:NM_005596, UCSC Genome Browser:NM_005596, UniProtKB:O00712, UniProtKB:Q5VW28 No chr9 14081842 14398982 14081843 14398983 +PA31592 4782 HGNC:7786 ENSG00000141905 nuclear factor I C NFIC CCAAT-binding transcription factor, nuclear factor I/C (CCAAT-binding transcription factor) CTF, CTF5, NF-I, NFI Yes No Comparative Toxicogenomics Database:4782, Ensembl:ENSG00000141905, GenAtlas:NFIC, GeneCard:NFIC, HGNC:HGNC:7786, HumanCyc Gene:HS06876, NCBI Gene:4782, OMIM:600729, RefSeq DNA:NT_011255, RefSeq Protein:NP_005588, RefSeq Protein:NP_995315, RefSeq RNA:NM_005597, RefSeq RNA:NM_205843, UCSC Genome Browser:NM_005597, UniProtKB:P08651 No chr19 3359561 3469215 3359563 3469217 +PA31593 4783 HGNC:7787 ENSG00000165030 nuclear factor, interleukin 3 regulated NFIL3 E4 promoter-binding protein, adenovirus E4 promoter region binding protein E4BP4, IL3BP1, NF-IL3A, NFIL3A Yes No Comparative Toxicogenomics Database:4783, Ensembl:ENSG00000165030, GenAtlas:NFIL3, GeneCard:NFIL3, HGNC:HGNC:7787, HumanCyc Gene:HS09174, ModBase:Q16649, NCBI Gene:4783, OMIM:605327, RefSeq DNA:NT_008470, RefSeq Protein:NP_005375, RefSeq RNA:NM_005384, UCSC Genome Browser:NM_005384, UniProtKB:Q16649 No chr9 94171327 94186908 91409045 91425063 +PA166351981 105372267 HGNC:52681 NFIL3 like basic leucine zipper NFILZ LINC01862 Yes No HGNC:HGNC:52681, NCBI Gene:105372267 No 0 0 0 0 +PA31594 4784 HGNC:7788 ENSG00000008441 nuclear factor I X NFIX CCAAT-binding transcription factor, nuclear factor I/X (CCAAT-binding transcription factor) NF1A Yes No Comparative Toxicogenomics Database:4784, Ensembl:ENSG00000008441, GenAtlas:NFIX, GeneCard:NFIX, HGNC:HGNC:7788, HumanCyc Gene:HS00248, NCBI Gene:4784, OMIM:164005, RefSeq DNA:NT_011295, RefSeq Protein:NP_002492, RefSeq RNA:NM_002501, UCSC Genome Browser:NM_002501, UniProtKB:Q14938 No chr19 13106584 13209610 12995512 13098796 +PA248 4790 HGNC:7794 ENSG00000109320 nuclear factor kappa B subunit 1 NFKB1 Nuclear factor NF-kappa-B p105 subunit, nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 KBF1, NF-kB1, NF-kappaB, NFKB-p50, NFkappaB, p105, p50 Yes Yes Comparative Toxicogenomics Database:4790, Ensembl:ENSG00000109320, GenAtlas:NFKB1, GeneCard:NFKB1, HGNC:HGNC:7794, HumanCyc Gene:HS03217, ModBase:P19838, NCBI Gene:4790, OMIM:164011, RefSeq DNA:NT_016354, RefSeq Protein:NP_001158884, RefSeq Protein:NP_003989, RefSeq RNA:NM_001165412, RefSeq RNA:NM_003998, UCSC Genome Browser:NM_003998, UniProtKB:P19838 No chr4 103422486 103538459 102501329 102617302 +PA31600 4791 HGNC:7795 ENSG00000077150 nuclear factor kappa B subunit 2 NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) LYT-10, NF-kB2, p105, p49/p100, p52 Yes Yes Comparative Toxicogenomics Database:4791, Ensembl:ENSG00000077150, GenAtlas:NFKB2, GeneCard:NFKB2, HGNC:HGNC:7795, HumanCyc Gene:HS01231, ModBase:Q00653, NCBI Gene:4791, OMIM:164012, RefSeq DNA:NT_030059, RefSeq Protein:NP_001070961, RefSeq Protein:NP_001070962, RefSeq Protein:NP_002493, RefSeq RNA:NM_001077493, RefSeq RNA:NM_001077494, RefSeq RNA:NM_002502, UCSC Genome Browser:NM_002502, UniProtKB:A8K9D9, UniProtKB:Q00653 No chr10 104153867 104162286 102394110 102402529 +PA31601 4792 HGNC:7797 ENSG00000100906 NFKB inhibitor alpha NFKBIA """NF-kappa-B inhibitor alpha"", ""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha""" IKBA, IkappaBalpha, MAD-3, NFKBI Yes Yes Comparative Toxicogenomics Database:4792, Ensembl:ENSG00000100906, GenAtlas:NFKBIA, GeneCard:NFKBIA, HGNC:HGNC:7797, HumanCyc Gene:HS02162, ModBase:P25963, NCBI Gene:4792, OMIM:164008, OMIM:612132, RefSeq DNA:NG_007571, RefSeq DNA:NT_026437, RefSeq Protein:NP_065390, RefSeq RNA:NM_020529, UCSC Genome Browser:NM_020529, UniProtKB:P25963 No chr14 35870716 35873960 35401510 35404754 +PA31602 4793 HGNC:7798 ENSG00000104825 NFKB inhibitor beta NFKBIB """NF-kappa-B inhibitor beta"", ""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta""" IKBB, TRIP9 Yes Yes Comparative Toxicogenomics Database:4793, Ensembl:ENSG00000104825, GenAtlas:NFKBIB, GeneCard:NFKBIB, HGNC:HGNC:7798, HumanCyc Gene:HS02627, ModBase:Q15653, NCBI Gene:4793, OMIM:604495, RefSeq DNA:NT_011109, RefSeq Protein:NP_001001716, RefSeq Protein:NP_002494, RefSeq RNA:NM_001001716, RefSeq RNA:NM_002503, UCSC Genome Browser:NM_002503, UniProtKB:Q15653, UniProtKB:Q96LS1 No chr19 39390340 39399534 38899503 38908894 +PA162397453 84807 HGNC:15671 ENSG00000167604 NFKB inhibitor delta NFKBID """NF-kappa-B inhibitor delta"", ""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta""" IkBNS, IkappaBNS, TA-NFKBH Yes No Ensembl:ENSG00000167604, GeneCard:NFKBID, HGNC:HGNC:15671, HumanCyc Gene:HS15571, ModBase:Q8NI38, NCBI Gene:84807, RefSeq DNA:NT_011109, RefSeq Protein:NP_640332, RefSeq RNA:NM_139239, UniProtKB:Q8NI38 No chr19 36378854 36393205 35887630 35902301 +PA31603 4794 HGNC:7799 ENSG00000146232 NFKB inhibitor epsilon NFKBIE """NF-kappa-B inhibitor epsilon"", ""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon""" IKBE Yes No Comparative Toxicogenomics Database:4794, Ensembl:ENSG00000146232, GenAtlas:NFKBIE, GeneCard:NFKBIE, HGNC:HGNC:7799, HumanCyc Gene:HS07334, ModBase:O00221, NCBI Gene:4794, OMIM:604548, RefSeq DNA:NT_007592, RefSeq Protein:NP_004547, RefSeq RNA:NM_004556, UCSC Genome Browser:NM_004556, UniProtKB:O00221, UniProtKB:Q96F31 No chr6 44225903 44233525 44258166 44265788 +PA31604 4795 HGNC:7800 ENSG00000204498 NFKB inhibitor like 1 NFKBIL1 NF-kappa-B inhibitor-like protein 1, nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 IKBL, NFKBIL Yes No Comparative Toxicogenomics Database:4795, Ensembl:ENSG00000204498, GenAtlas:NFKBIL1, GeneCard:NFKBIL1, HGNC:HGNC:7800, HumanCyc Gene:HS09790, ModBase:Q9UBC1, NCBI Gene:4795, OMIM:180300, OMIM:601022, RefSeq DNA:NG_012344, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001138433, RefSeq Protein:NP_001138434, RefSeq Protein:NP_001138435, RefSeq Protein:NP_004998, RefSeq RNA:NM_001144961, RefSeq RNA:NM_001144962, RefSeq RNA:NM_001144963, RefSeq RNA:NM_005007, UCSC Genome Browser:NM_005007, UniProtKB:A8K778, UniProtKB:Q5ST96, UniProtKB:Q5STV4, UniProtKB:Q5STV6, UniProtKB:Q9UBC1 No chr6 31514628 31526606 31546851 31558829 +PA134990505 64332 HGNC:29805 ENSG00000144802 NFKB inhibitor zeta NFKBIZ """IL-1 inducible nuclear ankyrin-repeat protein"", ""NF-kappa-B inhibitor zeta"", ""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta""" FLJ34463, INAP, MAIL Yes No Comparative Toxicogenomics Database:64332, Ensembl:ENSG00000144802, GeneCard:NFKBIZ, HGNC:HGNC:29805, HumanCyc Gene:HS14050, ModBase:Q9BYH8, NCBI Gene:64332, OMIM:608004, RefSeq DNA:NT_005612, RefSeq Protein:NP_001005474, RefSeq Protein:NP_113607, RefSeq RNA:NM_001005474, RefSeq RNA:NM_031419, UniProtKB:Q9BYH8 No chr3 101546834 101579869 101827990 101861025 +PA31606 4798 HGNC:7802 ENSG00000170322 nuclear factor related to kappaB binding protein NFRKB DNA-binding protein R kappa B, INO80 complex subunit G, nuclear factor related to kappa B binding protein DKFZp547B2013, INO80G Yes No Comparative Toxicogenomics Database:4798, Ensembl:ENSG00000170322, GenAtlas:NFRKB, GeneCard:NFRKB, HGNC:HGNC:7802, HumanCyc Gene:HS10101, NCBI Gene:4798, OMIM:164013, RefSeq DNA:NT_033899, RefSeq Protein:NP_001137307, RefSeq Protein:NP_006156, RefSeq RNA:NM_001143835, RefSeq RNA:NM_006165, UCSC Genome Browser:NM_006165, UniProtKB:Q6P4R8 No chr11 129733670 129765490 129863773 129895596 +PA31607 9054 HGNC:15910 ENSG00000244005 NFS1 cysteine desulfurase NFS1 """NFS1 cysteine desulfurase"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"", ""NFS1, cysteine desulfurase""" IscS, NifS Yes No Comparative Toxicogenomics Database:9054, Ensembl:ENSG00000244005, GenAtlas:NFS1, GeneCard:NFS1, HGNC:HGNC:15910, HumanCyc Gene:HS01304, ModBase:Q9Y697, NCBI Gene:9054, OMIM:603485, RefSeq DNA:NT_011362, RefSeq Protein:NP_001185918, RefSeq Protein:NP_066923, RefSeq RNA:NM_001198989, RefSeq RNA:NM_021100, RefSeq RNA:NR_037570, UCSC Genome Browser:NM_021100, UniProtKB:Q9Y697 No chr20 34256610 34287287 35668688 35699365 +PA162397454 27247 HGNC:16287 ENSG00000169599 NFU1 iron-sulfur cluster scaffold NFU1 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) CGI-33, HIRIP5, NIFUC, NifU Yes No Ensembl:ENSG00000169599, GeneCard:NFU1, HGNC:HGNC:16287, HumanCyc Gene:HS15790, ModBase:Q9UMS0, NCBI Gene:27247, OMIM:608100, RefSeq DNA:NT_022184, RefSeq Protein:NP_001002755, RefSeq Protein:NP_001002756, RefSeq Protein:NP_001002757, RefSeq Protein:NP_056515, RefSeq RNA:NM_001002755, RefSeq RNA:NM_001002756, RefSeq RNA:NM_001002757, RefSeq RNA:NM_015700, UniProtKB:Q9UMS0 No chr2 69623245 69664760 69396113 69438123 +PA31608 4799 HGNC:7803 ENSG00000086102 nuclear transcription factor, X-box binding 1 NFX1 MGC20369, NFX2, TEG-42, Tex42 Yes No Comparative Toxicogenomics Database:4799, Ensembl:ENSG00000086102, GenAtlas:NFX1, GeneCard:NFX1, HGNC:HGNC:7803, HumanCyc Gene:HS01521, ModBase:Q12986, NCBI Gene:4799, OMIM:603255, RefSeq DNA:NT_008413, RefSeq Protein:NP_002495, RefSeq Protein:NP_667344, RefSeq Protein:NP_667345, RefSeq RNA:NM_002504, RefSeq RNA:NM_147133, RefSeq RNA:NM_147134, UCSC Genome Browser:NM_002504, UniProtKB:A0JLR2, UniProtKB:Q12986 No chr9 33290418 33371155 33290417 33371163 +PA38661 152518 HGNC:18726 ENSG00000170448 nuclear transcription factor, X-box binding like 1 NFXL1 """nuclear transcription factor, X-box binding-like 1"", ""ovarian zinc finger protein""" HOZFP Yes No Comparative Toxicogenomics Database:152518, Ensembl:ENSG00000170448, GenAtlas:NFXL1, GeneCard:NFXL1, HGNC:HGNC:18726, HumanCyc Gene:HS10131, ModBase:Q6ZNB6, NCBI Gene:152518, RefSeq DNA:NT_006238, RefSeq Protein:NP_694540, RefSeq RNA:NM_152995, UniProtKB:Q6ZNB6, UniProtKB:Q8J028 No chr4 47849250 47916684 47847233 47914667 +PA31609 4800 HGNC:7804 ENSG00000001167 nuclear transcription factor Y subunit alpha NFYA nuclear transcription factor Y, alpha CBF-B, HAP2, NF-YA Yes No Comparative Toxicogenomics Database:4800, Ensembl:ENSG00000001167, GenAtlas:NFYA, GeneCard:NFYA, HGNC:HGNC:7804, HumanCyc Gene:HS00072, ModBase:P23511, NCBI Gene:4800, OMIM:189903, RefSeq DNA:NT_007592, RefSeq Protein:NP_002496, RefSeq Protein:NP_068351, RefSeq RNA:NM_002505, RefSeq RNA:NM_021705, UCSC Genome Browser:NM_002505, UniProtKB:P23511 No chr6 41040707 41070146 41072968 41102407 +PA31610 4801 HGNC:7805 ENSG00000120837 nuclear transcription factor Y subunit beta NFYB nuclear transcription factor Y, beta CBF-A, HAP3, NF-YB Yes No Comparative Toxicogenomics Database:4801, Ensembl:ENSG00000120837, GenAtlas:NFYB, GeneCard:NFYB, HGNC:HGNC:7805, HumanCyc Gene:HS04441, ModBase:P25208, NCBI Gene:4801, OMIM:189904, RefSeq DNA:NT_029419, RefSeq Protein:NP_006157, RefSeq RNA:NM_006166, UCSC Genome Browser:NM_006166, UniProtKB:P25208 No chr12 104510858 104532040 104117080 104138262 +PA31611 4802 HGNC:7806 ENSG00000066136 nuclear transcription factor Y subunit gamma NFYC nuclear transcription factor Y, gamma CBF-C, NF-YC Yes No Comparative Toxicogenomics Database:4802, Ensembl:ENSG00000066136, GenAtlas:NFYC, GeneCard:NFYC, HGNC:HGNC:7806, HumanCyc Gene:HS00869, ModBase:Q9UML0, NCBI Gene:4802, OMIM:605344, RefSeq DNA:NT_032977, RefSeq Protein:NP_001136059, RefSeq Protein:NP_001136060, RefSeq Protein:NP_001136061, RefSeq Protein:NP_001136062, RefSeq Protein:NP_055038, RefSeq RNA:NM_001142587, RefSeq RNA:NM_001142588, RefSeq RNA:NM_001142589, RefSeq RNA:NM_001142590, RefSeq RNA:NM_014223, UCSC Genome Browser:NM_014223, UniProtKB:B4DUS6, UniProtKB:B4DW63, UniProtKB:Q13952, UniProtKB:Q59GY4, UniProtKB:Q5T6K9 No chr1 41157242 41237275 40691570 40771603 +PA31612 58157 HGNC:14077 ENSG00000165553 neuroglobin NGB Yes No Comparative Toxicogenomics Database:58157, Ensembl:ENSG00000165553, GenAtlas:NGB, GeneCard:NGB, HGNC:HGNC:14077, HumanCyc Gene:HS09247, ModBase:Q9NPG2, NCBI Gene:58157, OMIM:605304, RefSeq DNA:NT_026437, RefSeq Protein:NP_067080, RefSeq RNA:NM_021257, UCSC Genome Browser:NM_021257, UniProtKB:A0M8W9, UniProtKB:Q9NPG2 No chr14 77731834 77737655 77265491 77271312 +PA134957933 25983 HGNC:20271 ENSG00000129460 neuroguidin NGDN neuroguidin, EIF4E binding protein C14orf120, CANu1, DKFZP564O092, LCP5, NGD, lpd-2 Yes No Comparative Toxicogenomics Database:25983, Ensembl:ENSG00000129460, GeneCard:NGDN, HGNC:HGNC:20271, ModBase:Q8NEJ9, NCBI Gene:25983, OMIM:610777, RefSeq DNA:NT_026437, RefSeq Protein:NP_001036100, RefSeq Protein:NP_056329, RefSeq RNA:NM_001042635, RefSeq RNA:NM_015514, UniProtKB:Q8NEJ9 No chr14 23938898 23947402 23469689 23478193 +PA31613 25791 HGNC:7807 ENSG00000066248 neuronal guanine nucleotide exchange factor NGEF ephexin, ephexin1 ARHGEF27 Yes No Comparative Toxicogenomics Database:25791, Ensembl:ENSG00000066248, GenAtlas:NGEF, GeneCard:NGEF, HGNC:HGNC:7807, HumanCyc Gene:HS12180, ModBase:Q8N5V2, NCBI Gene:25791, OMIM:605991, RefSeq DNA:NT_005403, RefSeq Protein:NP_001107562, RefSeq Protein:NP_062824, RefSeq RNA:NM_001114090, RefSeq RNA:NM_019850, UCSC Genome Browser:NM_019850, UniProtKB:Q8N5V2 No chr2 233743396 233877951 232878686 233013241 +PA162397475 4803 HGNC:7808 ENSG00000134259 nerve growth factor NGF nerve growth factor (beta polypeptide) NGFB Yes Yes Ensembl:ENSG00000134259, GeneCard:NGF, HGNC:HGNC:7808, HumanCyc Gene:HS05847, ModBase:P01138, NCBI Gene:4803, OMIM:162030, OMIM:608654, RefSeq DNA:NG_007944, RefSeq DNA:NT_032977, RefSeq Protein:NP_002497, RefSeq RNA:NM_002506, UniProtKB:P01138 No chr1 115828537 115880857 115285915 115338253 +PA31615 4804 HGNC:7809 ENSG00000064300 nerve growth factor receptor NGFR """TNFR superfamily, member 16"", ""low affinity nerve growth factor receptor""" CD271, TNFRSF16, p75NTR Yes Yes Comparative Toxicogenomics Database:4804, Ensembl:ENSG00000064300, GenAtlas:NGFR, GeneCard:NGFR, HGNC:HGNC:7809, HumanCyc Gene:HS00800, ModBase:P08138, NCBI Gene:4804, OMIM:162010, RefSeq DNA:NT_010783, RefSeq Protein:NP_002498, RefSeq RNA:NM_002507, UCSC Genome Browser:NM_002507, UniProtKB:P08138 No chr17 47572655 47592382 49495293 49515020 +PA38462 55768 HGNC:17646 ENSG00000151092 N-glycanase 1 NGLY1 peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase, peptide:N-glycanase FLJ11005, PNG-1, PNG1 Yes No Comparative Toxicogenomics Database:55768, Ensembl:ENSG00000151092, GenAtlas:NGLY1, GeneCard:NGLY1, HGNC:HGNC:17646, HumanCyc Gene:HS14352, ModBase:Q96IV0, NCBI Gene:55768, OMIM:610661, RefSeq DNA:NT_022517, RefSeq Protein:NP_001138765, RefSeq Protein:NP_001138766, RefSeq Protein:NP_001138767, RefSeq Protein:NP_060767, RefSeq RNA:NM_001145293, RefSeq RNA:NM_001145294, RefSeq RNA:NM_001145295, RefSeq RNA:NM_018297, UCSC Genome Browser:NM_018297, UniProtKB:B4DJE9, UniProtKB:Q96IV0 No chr3 25760435 25831530 25718944 25790039 +PA142671265 51335 HGNC:18077 ENSG00000182768 neugrin, neurite outgrowth associated NGRN DSC92 Yes No Comparative Toxicogenomics Database:51335, Ensembl:ENSG00000182768, GeneCard:NGRN, HGNC:HGNC:18077, ModBase:Q9NPE2, NCBI Gene:51335, RefSeq DNA:NT_010274, RefSeq Protein:NP_001028260, RefSeq Protein:NP_057729, RefSeq RNA:NM_001033088, RefSeq RNA:NM_016645, RefSeq RNA:NR_028052, UniProtKB:Q9NPE2 No chr15 90808895 90815443 90265663 90272211 +PA144596401 79840 HGNC:25737 ENSG00000187736 non-homologous end joining factor 1 NHEJ1 XRCC4-like factor, nonhomologous end-joining factor 1 Cernunnos, FLJ12610, XLF Yes No Ensembl:ENSG00000187736, GeneCard:NHEJ1, HGNC:HGNC:25737, ModBase:Q9H9Q4, NCBI Gene:79840, OMIM:611290, OMIM:611291, RefSeq DNA:NG_007880, RefSeq DNA:NT_005403, RefSeq Protein:NP_079058, RefSeq RNA:NM_024782, UniProtKB:Q9H9Q4 No chr2 219940046 220025587 219075324 219160865 +PA35931 9368 HGNC:11075 ENSG00000109062 NHERF family PDZ scaffold protein 1 NHERF1 """Na(+)/H(+) exchange regulatory cofactor 1"", ""SLC9A3 regulator 1"", ""ezrin-radixin-moesin-binding phosphoprotein 50"", ""solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1""" EBP50, NHE-RF, NHERF, NHERF-1, NHERF1, SLC9A3R1 Yes No Comparative Toxicogenomics Database:9368, Ensembl:ENSG00000109062, GenAtlas:SLC9A3R1, GeneCard:SLC9A3R1, HGNC:HGNC:11075, HumanCyc Gene:HS03190, ModBase:O14745, NCBI Gene:9368, OMIM:604990, OMIM:612287, RefSeq DNA:NG_013022, RefSeq DNA:NT_010783, RefSeq Protein:NP_004243, RefSeq RNA:NM_004252, UCSC Genome Browser:NM_004252, UniProtKB:O14745 No chr17 72744751 72765499 74748612 74769360 +PA35932 9351 HGNC:11076 ENSG00000065054 NHERF family PDZ scaffold protein 2 NHERF2 """NHE3 kinase A regulatory protein"", ""Na(+)/H(+) exchange regulatory cofactor 2"", ""SLC9A3 regulator 2"", ""SRY-interacting protein 1"", ""Tyrosine kinase activator protein 1"", ""solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2""" E3KARP, NHERF-2, OCTS2, SIP-1, SLC9A3R2, TKA-1 Yes No Comparative Toxicogenomics Database:9351, Ensembl:ENSG00000065054, GenAtlas:SLC9A3R2, GeneCard:SLC9A3R2, HGNC:HGNC:11076, HumanCyc Gene:HS00827, ModBase:Q15599, NCBI Gene:9351, OMIM:606553, RefSeq DNA:NT_010393, RefSeq Protein:NP_001123484, RefSeq Protein:NP_004776, RefSeq RNA:NM_001130012, RefSeq RNA:NM_004785, UCSC Genome Browser:NM_004785, UniProtKB:Q15599 No chr16 2076869 2089027 2026868 2039026 +PA134911718 79849 HGNC:19891 ENSG00000172367 NHERF family PDZ scaffold protein 4 NHERF4 Intestinal and kidney-enriched PDZ protein, Na(+)/H(+) exchange regulatory cofactor 4, Na/Pi cotransporter C-terminal-associated protein 2, PDZ domain containing 3 FLJ22756, IKEPP, NaPi-Cap2, PDZD3, PDZK2 Yes No Ensembl:ENSG00000172367, GeneCard:PDZD3, HGNC:HGNC:19891, HumanCyc Gene:HS10503, ModBase:Q86UT5, NCBI Gene:79849, OMIM:607146, RefSeq DNA:NT_033899, RefSeq Protein:NP_001161940, RefSeq Protein:NP_079067, RefSeq RNA:NM_001168468, RefSeq RNA:NM_024791, RefSeq RNA:NR_033122, UniProtKB:B0YJ61, UniProtKB:Q86UT5 No chr11 119056127 119060932 119185457 119190223 +PA31619 4807 HGNC:7817 ENSG00000171786 nescient helix-loop-helix 1 NHLH1 nescient helix loop helix 1 HEN1, NSCL, NSCL1, bHLHa35 Yes Yes Ensembl:ENSG00000171786, GenAtlas:NHLH1, GeneCard:NHLH1, HGNC:HGNC:7817, HumanCyc Gene:HS10380, ModBase:Q02575, NCBI Gene:4807, OMIM:162360, RefSeq DNA:NT_004487, RefSeq Protein:NP_005589, RefSeq RNA:NM_005598, UCSC Genome Browser:NM_005598, UniProtKB:Q02575, UniProtKB:Q5T203 No chr1 160336861 160342638 160367071 160372848 +PA31620 4808 HGNC:7818 ENSG00000177551 nescient helix-loop-helix 2 NHLH2 nescient helix loop helix 2 HEN2, NSCL2, bHLHa34 Yes No Ensembl:ENSG00000177551, GenAtlas:NHLH2, GeneCard:NHLH2, HGNC:HGNC:7818, HumanCyc Gene:HS11185, ModBase:Q02577, NCBI Gene:4808, OMIM:162361, RefSeq DNA:NT_032977, RefSeq Protein:NP_001104531, RefSeq Protein:NP_005590, RefSeq RNA:NM_001111061, RefSeq RNA:NM_005599, UCSC Genome Browser:NM_005599, UniProtKB:Q02577 No chr1 116378998 116383747 115829707 115841127 +PA134916338 378884 HGNC:21576 ENSG00000187566 NHL repeat containing E3 ubiquitin protein ligase 1 NHLRC1 """NHL repeat containing 1"", ""epilepsy, progressive myoclonus type 2B""" EPM2B, bA204B7.2, malin Yes No Comparative Toxicogenomics Database:378884, Ensembl:ENSG00000187566, GeneCard:NHLRC1, HGNC:HGNC:21576, ModBase:Q6VVB1, NCBI Gene:378884, OMIM:254780, OMIM:608072, RefSeq DNA:NG_016750, RefSeq DNA:NT_007592, RefSeq Protein:NP_940988, RefSeq RNA:NM_198586, UniProtKB:Q6VVB1 No chr6 18120718 18122851 18120487 18122620 +PA134883896 374354 HGNC:24731 ENSG00000196865 NHL repeat containing 2 NHLRC2 DKFZp779F115, FLJ20147, FLJ25621, FLJ33312, MGC45492 Yes No Comparative Toxicogenomics Database:374354, Ensembl:ENSG00000196865, GeneCard:NHLRC2, HGNC:HGNC:24731, ModBase:Q8NBF2, NCBI Gene:374354, RefSeq DNA:NT_030059, RefSeq Protein:NP_940916, RefSeq RNA:NM_198514, UniProtKB:Q8NBF2 No chr10 115614391 115672265 113854632 113912506 +PA162397544 387921 HGNC:33751 ENSG00000188811 NHL repeat containing 3 NHLRC3 Yes No Ensembl:ENSG00000188811, GeneCard:NHLRC3, HGNC:HGNC:33751, ModBase:Q5JS37, NCBI Gene:387921, RefSeq DNA:NT_024524, RefSeq Protein:NP_001012772, RefSeq Protein:NP_001017370, RefSeq RNA:NM_001012754, RefSeq RNA:NM_001017370, UniProtKB:B4DTL0, UniProtKB:Q5JS37, UniProtKB:Q68DP7 No chr13 39612448 39624246 39038311 39050109 +PA165450302 283948 HGNC:26700 ENSG00000257108 NHL repeat containing 4 NHLRC4 Yes No Ensembl:ENSG00000257108, GeneCard:NHLRC4, HGNC:HGNC:26700, NCBI Gene:283948, RefSeq DNA:NT_010393, RefSeq Protein:NP_788850, RefSeq RNA:NM_176677, UniProtKB:P0CG21 No chr16 617032 619495 566995 569495 +PA164723898 55651 HGNC:14377 ENSG00000145912 NHP2 ribonucleoprotein NHP2 FLJ20479, NOLA2 Yes No Ensembl:ENSG00000145912, GeneCard:NHP2, HGNC:HGNC:14377, HumanCyc Gene:HS07303, ModBase:Q9NX24, NCBI Gene:55651, OMIM:224230, OMIM:606470, RefSeq DNA:NG_011765, RefSeq DNA:NT_023133, RefSeq Protein:NP_001030005, RefSeq Protein:NP_060308, RefSeq RNA:NM_001034833, RefSeq RNA:NM_017838, UniProtKB:Q9NX24 No chr5 177576464 177580961 178149463 178153960 +PA134943870 414200 HGNC:23582 ENSG00000105988 NHP2 ribonucleoprotein pseudogene 1 NHP2P1 bA360G10.4 Yes No Ensembl:ENSG00000105988, HGNC:HGNC:23582, NCBI Gene:414200, RefSeq DNA:NG_005297, RefSeq DNA:NT_030059 No chr10 93976049 93976812 92216292 92217055 +PA31622 4810 HGNC:7820 ENSG00000188158 NHS actin remodeling regulator NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) Yes No Comparative Toxicogenomics Database:4810, Ensembl:ENSG00000188158, GenAtlas:NHS, GeneCard:NHS, HGNC:HGNC:7820, ModBase:Q6T4R5, NCBI Gene:4810, OMIM:300457, OMIM:302350, RefSeq DNA:NG_011553, RefSeq DNA:NT_167197, RefSeq Protein:NP_001129496, RefSeq Protein:NP_938011, RefSeq RNA:NM_001136024, RefSeq RNA:NM_198270, UniProtKB:Q6T4R5 No chrX 17393357 17754114 17375420 17735994 +PA134929320 57224 HGNC:21021 ENSG00000135540 NHS like 1 NHSL1 NHS-like 1 C6orf63, KIAA1357, bA43P8.1 Yes No Comparative Toxicogenomics Database:57224, Ensembl:ENSG00000135540, GeneCard:NHSL1, HGNC:HGNC:21021, NCBI Gene:57224, RefSeq DNA:NT_025741, RefSeq Protein:NP_001137532, RefSeq Protein:NP_065197, RefSeq RNA:NM_001144060, RefSeq RNA:NM_020464, UniProtKB:Q5SYE7 No chr6 138743180 138893726 138422043 138692616 +PA162397561 340527 HGNC:33737 ENSG00000204131 NHS like 2 NHSL2 NHS-like 2 Yes No Ensembl:ENSG00000204131, GeneCard:NHSL2, HGNC:HGNC:33737, ModBase:Q5HYW2, NCBI Gene:340527, RefSeq DNA:NT_011669, RefSeq Protein:NP_001013649, RefSeq RNA:NM_001013627 No chrX 71130938 71363424 71911073 72153286 +PA142671612 57648 HGNC:29301 ENSG00000162522 NHS like 3 NHSL3 KIAA1522 Yes No Comparative Toxicogenomics Database:57648, Ensembl:ENSG00000162522, GeneCard:KIAA1522, HGNC:HGNC:29301, NCBI Gene:57648, RefSeq DNA:NT_032977, RefSeq Protein:NP_001185901, RefSeq Protein:NP_001185902, RefSeq Protein:NP_065939, RefSeq RNA:NM_001198972, RefSeq RNA:NM_001198973, RefSeq RNA:NM_020888, UniProtKB:Q9P206 No chr1 33207492 33240571 32741839 32774970 +PA162385951 116496 HGNC:16784 ENSG00000135842 niban apoptosis regulator 1 NIBAN1 """cell growth inhibiting protein 39"", ""family with sequence similarity 129 member A"", ""family with sequence similarity 129, member A""" C1orf24, FAM129A, GIG39, NIBAN Yes No Ensembl:ENSG00000135842, GeneCard:FAM129A, HGNC:HGNC:16784, HumanCyc Gene:HS06071, ModBase:Q9BZQ8, NCBI Gene:116496, RefSeq DNA:NT_004487, RefSeq Protein:NP_443198, RefSeq RNA:NM_052966, UniProtKB:Q9BZQ8 No chr1 184760159 184943718 184791025 184975132 +PA162385984 64855 HGNC:25282 ENSG00000136830 niban apoptosis regulator 2 NIBAN2 """family with sequence similarity 129 member B"", ""family with sequence similarity 129, member B"", ""melanoma invasion by ERK""" C9orf88, DKFZP434H0820, FAM129B, FLJ13518, FLJ22151, FLJ22298, MINERVA, bA356B19.6 Yes No Ensembl:ENSG00000136830, GeneCard:FAM129B, HGNC:HGNC:25282, HumanCyc Gene:HS13643, ModBase:Q96TA1, NCBI Gene:64855, RefSeq DNA:NT_008470, RefSeq Protein:NP_001030611, RefSeq Protein:NP_073744, RefSeq RNA:NM_001035534, RefSeq RNA:NM_022833, UniProtKB:Q5VVW7, UniProtKB:Q96TA1 No chr9 130267618 130341268 127505338 127579007 +PA162386017 199786 HGNC:24130 ENSG00000167483 niban apoptosis regulator 3 NIBAN3 """B cell novel protein 1"", ""family with sequence similarity 129 member C"", ""family with sequence similarity 129, member C""" BCNP1, FAM129C, FLJ39802 Yes No Ensembl:ENSG00000167483, GeneCard:FAM129C, HGNC:HGNC:24130, HumanCyc Gene:HS15556, ModBase:Q86XR2, NCBI Gene:199786, OMIM:609967, RefSeq DNA:NT_011295, RefSeq Protein:NP_001091994, RefSeq Protein:NP_775815, RefSeq RNA:NM_001098524, RefSeq RNA:NM_173544, UniProtKB:Q86XR2 No chr19 17634110 17664648 17523301 17556755 +PA31623 84276 HGNC:18317 ENSG00000145029 nicolin 1, tubulin polyglutamylase complex subunit NICN1 nicolin 1 MGC12936 Yes No Comparative Toxicogenomics Database:84276, Ensembl:ENSG00000145029, GenAtlas:NICN1, GeneCard:NICN1, HGNC:HGNC:18317, HumanCyc Gene:HS14069, NCBI Gene:84276, OMIM:611516, RefSeq DNA:NT_022517, RefSeq Protein:NP_115692, RefSeq RNA:NM_032316, UCSC Genome Browser:NM_032316, UniProtKB:B2R7Q3, UniProtKB:Q9BSH3 No chr3 49459766 49466777 49422333 49429324 +PA31624 171176 HGNC:18322 ENSG00000237623 nicolin 2, pseudogene NICN2P Yes No Ensembl:ENSG00000237623, GenAtlas:NICN2P, GeneCard:NICN2P, HGNC:HGNC:18322, NCBI Gene:171176, RefSeq DNA:NG_005534, RefSeq DNA:NT_079573 No chrX 47128504 47133961 47272141 47274462 +PA164717315 401115 HGNC:34437 ENSG00000243449 NELL2 interacting cell ontogeny regulator 1 NICOL1 NELL2-interacting cofactor for lumicrine signalling, chromosome 4 open reading frame 48 C4orf48, NICOL Yes No Ensembl:ENSG00000243449, GeneCard:C4orf48, HGNC:HGNC:34437, NCBI Gene:401115, RefSeq DNA:NT_006051, RefSeq Protein:NP_001135408, RefSeq Protein:NP_001161715, RefSeq RNA:NM_001141936, RefSeq RNA:NM_001168243, UniProtKB:Q5BLP8 No chr4 2043720 2045697 2035610 2043970 +PA31625 4811 HGNC:7821 ENSG00000116962 nidogen 1 NID1 NID, entactin Yes No Comparative Toxicogenomics Database:4811, Ensembl:ENSG00000116962, GenAtlas:NID1, GeneCard:NID1, HGNC:HGNC:7821, HumanCyc Gene:HS04072, ModBase:P14543, NCBI Gene:4811, OMIM:131390, RefSeq DNA:NT_167186, RefSeq Protein:NP_002499, RefSeq RNA:NM_002508, UCSC Genome Browser:NM_002508, UniProtKB:P14543 No chr1 236139130 236228481 235975830 236065181 +PA31626 22795 HGNC:13389 ENSG00000087303 nidogen 2 NID2 nidogen 2 (osteonidogen), osteonidogen Yes No Comparative Toxicogenomics Database:22795, Ensembl:ENSG00000087303, GenAtlas:NID2, GeneCard:NID2, HGNC:HGNC:13389, HumanCyc Gene:HS01573, ModBase:Q14112, NCBI Gene:22795, OMIM:605399, RefSeq DNA:NT_026437, RefSeq Protein:NP_031387, RefSeq RNA:NM_007361, UCSC Genome Browser:NM_007361, UniProtKB:Q14112 No chr14 52471520 52535949 52004802 52069231 +PA31629 60491 HGNC:13390 ENSG00000196290 NGG1 interacting factor 3 like 1 NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) ALS2CR1, CALS-7, MDS015 Yes No Comparative Toxicogenomics Database:60491, Ensembl:ENSG00000196290, GenAtlas:NIF3L1, GeneCard:NIF3L1, HGNC:HGNC:13390, ModBase:Q9GZT8, NCBI Gene:60491, OMIM:605778, RefSeq DNA:NT_005403, RefSeq Protein:NP_001129511, RefSeq Protein:NP_001135827, RefSeq Protein:NP_001135828, RefSeq Protein:NP_068596, RefSeq RNA:NM_001136039, RefSeq RNA:NM_001142355, RefSeq RNA:NM_001142356, RefSeq RNA:NM_021824, UCSC Genome Browser:NM_021824, UniProtKB:Q6X735, UniProtKB:Q9GZT8 No chr2 201754050 201768655 200889327 200903932 +PA38470 84365 HGNC:17838 ENSG00000155438 nucleolar protein interacting with the FHA domain of MKI67 NIFK MKI67 (FHA domain) interacting nucleolar phosphoprotein, nucleolar protein interacting with the FHA domain of pKi-67 MKI67IP, NIFK, Nopp34, hNIFK Yes No Comparative Toxicogenomics Database:84365, Ensembl:ENSG00000155438, GenAtlas:MKI67IP, GeneCard:MKI67IP, HGNC:HGNC:17838, HumanCyc Gene:HS08050, ModBase:Q9BYG3, NCBI Gene:84365, OMIM:611970, RefSeq DNA:NT_022135, RefSeq Protein:NP_115766, RefSeq RNA:NM_032390, UCSC Genome Browser:NM_032390, UniProtKB:Q9BYG3 No chr2 122484521 122494503 121726945 121736927 +PA166123709 167359 HGNC:28646 ENSG00000177453 NIM1 serine/threonine protein kinase NIM1K MGC42105, NIM1 Yes No Ensembl:ENSG00000177453, HGNC:HGNC:28646, NCBI Gene:167359 No +PA31630 51199 HGNC:14906 ENSG00000100503 ninein NIN ninein (GSK3B interacting protein) Yes No Comparative Toxicogenomics Database:51199, Ensembl:ENSG00000100503, GenAtlas:NIN, GeneCard:NIN, HGNC:HGNC:14906, HumanCyc Gene:HS02098, ModBase:Q9HBY5, NCBI Gene:51199, OMIM:608684, RefSeq DNA:NT_026437, RefSeq Protein:NP_057434, RefSeq Protein:NP_065972, RefSeq Protein:NP_891989, RefSeq Protein:NP_891991, RefSeq RNA:NM_016350, RefSeq RNA:NM_020921, RefSeq RNA:NM_182944, RefSeq RNA:NM_182946, UCSC Genome Browser:NM_016350, UniProtKB:Q5BKU3, UniProtKB:Q5XUU0, UniProtKB:Q8N4C6 No chr14 51186481 51297839 50719763 50831121 +PA31631 4814 HGNC:7824 ENSG00000131669 ninjurin 1 NINJ1 nerve injury-induced protein-1 NIN1 Yes No Comparative Toxicogenomics Database:4814, Ensembl:ENSG00000131669, GenAtlas:NINJ1, GeneCard:NINJ1, HGNC:HGNC:7824, HumanCyc Gene:HS05550, NCBI Gene:4814, OMIM:602062, RefSeq DNA:NT_008470, RefSeq Protein:NP_004139, RefSeq RNA:NM_004148, UCSC Genome Browser:NM_004148, UniProtKB:Q92982 No chr9 95883771 95896570 93121489 93134304 +PA31632 4815 HGNC:7825 ENSG00000171840 ninjurin 2 NINJ2 Yes No Comparative Toxicogenomics Database:4815, Ensembl:ENSG00000171840, GenAtlas:NINJ2, GeneCard:NINJ2, HGNC:HGNC:7825, HumanCyc Gene:HS10395, NCBI Gene:4815, OMIM:607297, RefSeq DNA:NT_009759, RefSeq Protein:NP_057617, RefSeq RNA:NM_016533, UCSC Genome Browser:NM_016533, UniProtKB:Q9NZG7 No chr12 673462 772755 564296 663741 +PA165392435 22981 HGNC:29163 ENSG00000101004 ninein like NINL ninein-like, ninein-like protein KIAA0980, NLP Yes No Ensembl:ENSG00000101004, GeneCard:NINL, HGNC:HGNC:29163, NCBI Gene:22981, OMIM:609580, RefSeq DNA:NT_011387, RefSeq Protein:NP_079452, RefSeq RNA:NM_025176, UniProtKB:Q9Y2I6 No chr20 25433333 25566167 25452697 25585531 +PA142671264 51388 HGNC:24328 ENSG00000132603 nucleolar pre-rRNA processing protein NIP7 NIP7 NIP7, nucleolar pre-rRNA processing protein CGI-37, FLJ10296, HSPC031, KD93 Yes No Comparative Toxicogenomics Database:51388, Ensembl:ENSG00000132603, GeneCard:NIP7, HGNC:HGNC:24328, HumanCyc Gene:HS13434, ModBase:Q9Y221, NCBI Gene:51388, RefSeq DNA:NT_010498, RefSeq Protein:NP_001186363, RefSeq Protein:NP_057185, RefSeq RNA:NM_001199434, RefSeq RNA:NM_016101, UniProtKB:Q9Y221 No chr16 69373415 69377014 69339512 69343111 +PA134967361 123606 HGNC:17043 ENSG00000170113 NIPA magnesium transporter 1 NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 MGC35570, SLC57A1, SPG6 Yes No Comparative Toxicogenomics Database:123606, Ensembl:ENSG00000170113, GenAtlas:NIPA1, GeneCard:NIPA1, HGNC:HGNC:17043, HumanCyc Gene:HS15846, ModBase:Q7RTP0, NCBI Gene:123606, OMIM:600363, OMIM:608145, RefSeq DNA:NG_009056, RefSeq DNA:NT_078094, RefSeq Protein:NP_001135747, RefSeq Protein:NP_653200, RefSeq RNA:NM_001142275, RefSeq RNA:NM_144599, UniProtKB:Q7RTP0, UniProtKB:Q8TAY1 No chr15 23043279 23086843 22786225 22829789 +PA134911294 81614 HGNC:17044 ENSG00000140157 NIPA magnesium transporter 2 NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 SLC57A2 Yes No Comparative Toxicogenomics Database:81614, Ensembl:ENSG00000140157, GeneCard:NIPA2, HGNC:HGNC:17044, HumanCyc Gene:HS06686, ModBase:Q8N8Q9, NCBI Gene:81614, OMIM:608146, RefSeq DNA:NG_021303, RefSeq DNA:NT_078094, RefSeq Protein:NP_001008860, RefSeq Protein:NP_001008892, RefSeq Protein:NP_001008894, RefSeq Protein:NP_001171817, RefSeq Protein:NP_001171818, RefSeq Protein:NP_112184, RefSeq RNA:NM_001008860, RefSeq RNA:NM_001008892, RefSeq RNA:NM_001008894, RefSeq RNA:NM_001184888, RefSeq RNA:NM_001184889, RefSeq RNA:NM_030922, UniProtKB:A6NFH4, UniProtKB:Q8N8Q9 No chr15 23004684 23034427 22838641 22868384 +PA164723925 152519 HGNC:27194 ENSG00000163293 NIPA like domain containing 1 NIPAL1 NIPA-like domain containing 1 DKFZp686A06115, NIPA3, NPAL1, SLC57A3 Yes No Ensembl:ENSG00000163293, GeneCard:NIPAL1, HGNC:HGNC:27194, NCBI Gene:152519, RefSeq DNA:NT_006238, RefSeq Protein:NP_997213, RefSeq RNA:NM_207330, UniProtKB:Q6NVV3 No chr4 48018791 48039084 48016772 48040173 +PA164723926 79815 HGNC:25854 ENSG00000104361 NIPA like domain containing 2 NIPAL2 NIPA-like domain containing 2 FLJ13955, NPAL2, SLC57A4 Yes Yes Ensembl:ENSG00000104361, GeneCard:NIPAL2, HGNC:HGNC:25854, HumanCyc Gene:HS12548, NCBI Gene:79815, RefSeq DNA:NT_008046, RefSeq Protein:NP_079035, RefSeq RNA:NM_024759, UniProtKB:Q9H841 No chr8 99202054 99307444 98189826 98295427 +PA164723927 57185 HGNC:25233 ENSG00000001461 NIPA like domain containing 3 NIPAL3 NIPA-like domain containing 3 DJ462O23.2, NPAL3, SLC57A5 Yes No Ensembl:ENSG00000001461, GeneCard:NIPAL3, HGNC:HGNC:25233, HumanCyc Gene:HS11986, NCBI Gene:57185, RefSeq DNA:NT_004610, RefSeq Protein:NP_065181, RefSeq RNA:NM_020448, UniProtKB:A2A298, UniProtKB:Q6P499 No chr1 24742245 24799473 24413360 24472983 +PA164723956 348938 HGNC:28018 ENSG00000172548 NIPA like domain containing 4 NIPAL4 NIPA-like domain containing 4, ichthyin ICHYN, NIPA4, SLC57A6 Yes No Ensembl:ENSG00000172548, GeneCard:NIPAL4, HGNC:HGNC:28018, NCBI Gene:348938, OMIM:609383, OMIM:612281, RefSeq DNA:NG_016626, RefSeq DNA:NT_023133, RefSeq Protein:NP_001092757, RefSeq Protein:NP_001165763, RefSeq RNA:NM_001099287, RefSeq RNA:NM_001172292, UniProtKB:Q0D2K0 No chr5 156887027 156901730 157460019 157474722 +PA134962343 25836 HGNC:28862 ENSG00000164190 NIPBL cohesin loading factor NIPBL """NIPBL, cohesin loading factor"", ""Nipped-B homolog (Drosophila)"", ""sister chromatid cohesion 2 homolog (yeast)""" DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, IDN3, Scc2 Yes No Comparative Toxicogenomics Database:25836, Ensembl:ENSG00000164190, GeneCard:NIPBL, HGNC:HGNC:28862, HumanCyc Gene:HS15168, ModBase:Q6KC79, NCBI Gene:25836, OMIM:122470, OMIM:608667, RefSeq DNA:NG_006987, RefSeq DNA:NT_006576, RefSeq Protein:NP_056199, RefSeq Protein:NP_597677, RefSeq RNA:NM_015384, RefSeq RNA:NM_133433, UniProtKB:Q6KC79 No chr5 36876861 37065926 36876759 37065819 +PA31634 8508 HGNC:7827 ENSG00000184117 nipsnap homolog 1 NIPSNAP1 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1, nipsnap homolog 1 (C. elegans) Yes No Comparative Toxicogenomics Database:8508, Ensembl:ENSG00000184117, GenAtlas:NIPSNAP1, GeneCard:NIPSNAP1, HGNC:HGNC:7827, ModBase:Q9BPW8, NCBI Gene:8508, OMIM:603249, RefSeq DNA:NT_011520, RefSeq Protein:NP_001189431, RefSeq Protein:NP_003625, RefSeq RNA:NM_001202502, RefSeq RNA:NM_003634, UCSC Genome Browser:NM_003634, UniProtKB:Q9BPW8 No chr22 29950797 29977326 29554808 29581337 +PA28593 2631 HGNC:4179 ENSG00000146729 nipsnap homolog 2 NIPSNAP2 glioblastoma amplified sequence GBAS, NIPSNAP2 Yes No Ensembl:ENSG00000146729, GenAtlas:GBAS, GeneCard:GBAS, HGNC:HGNC:4179, HumanCyc Gene:HS07368, ModBase:O75323, NCBI Gene:2631, OMIM:603004, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_001189398, RefSeq Protein:NP_001474, RefSeq RNA:NM_001202469, RefSeq RNA:NM_001483, UCSC Genome Browser:NM_001483, UniProtKB:O75323 No chr7 56032270 56067875 55964577 56000182 +PA134954501 25934 HGNC:23619 ENSG00000136783 nipsnap homolog 3A NIPSNAP3A nipsnap homolog 3A (C. elegans) DKFZp564D177, FLJ13953, HSPC299, MGC14553, NIPSNAP4, TassC Yes No Comparative Toxicogenomics Database:25934, Ensembl:ENSG00000136783, GeneCard:NIPSNAP3A, HGNC:HGNC:23619, HumanCyc Gene:HS13639, ModBase:Q9UFN0, NCBI Gene:25934, OMIM:608871, RefSeq DNA:NT_008470, RefSeq Protein:NP_056284, RefSeq RNA:NM_015469, UniProtKB:Q9UFN0 No chr9 107509969 107522403 104747688 104760122 +PA134947095 55335 HGNC:23641 ENSG00000165028 nipsnap homolog 3B NIPSNAP3B nipsnap homolog 3B (C. elegans) FLJ11275, NIPSNAP3, SNAP1 Yes No Ensembl:ENSG00000165028, GeneCard:NIPSNAP3B, HGNC:HGNC:23641, HumanCyc Gene:HS15276, ModBase:Q9BS92, NCBI Gene:55335, OMIM:608872, RefSeq DNA:NT_008470, RefSeq Protein:NP_060846, RefSeq RNA:NM_018376, UniProtKB:Q9BS92 No chr9 107526022 107540045 104763741 104777764 +PA31635 11188 HGNC:18006 ENSG00000010322 nischarin NISCH I-1 receptor candidate protein, imidazoline receptor antisera selected, imidazoline receptor candidate I-1, IRAS, KIAA0975 Yes No Ensembl:ENSG00000010322, GenAtlas:NISCH, GeneCard:NISCH, HGNC:HGNC:18006, HumanCyc Gene:HS00283, ModBase:Q9Y2I1, NCBI Gene:11188, RefSeq DNA:NT_022517, RefSeq Protein:NP_009115, RefSeq RNA:NM_007184, UCSC Genome Browser:NM_007184, UniProtKB:Q9Y2I1 No chr3 52489524 52527088 52455508 52493072 +PA31636 4817 HGNC:7828 ENSG00000158793 nitrilase 1 NIT1 Yes No Comparative Toxicogenomics Database:4817, Ensembl:ENSG00000158793, GenAtlas:NIT1, GeneCard:NIT1, HGNC:HGNC:7828, HumanCyc Gene:HS08330, ModBase:Q86X76, NCBI Gene:4817, OMIM:604618, RefSeq DNA:NT_004487, RefSeq Protein:NP_001172021, RefSeq Protein:NP_001172022, RefSeq Protein:NP_001172023, RefSeq Protein:NP_005591, RefSeq RNA:NM_001185092, RefSeq RNA:NM_001185093, RefSeq RNA:NM_001185094, RefSeq RNA:NM_005600, UCSC Genome Browser:NM_005600, UniProtKB:B1AQP4, UniProtKB:Q86X76 No chr1 161087862 161095235 161118072 161125446 +PA134882857 56954 HGNC:29878 ENSG00000114021 nitrilase family member 2 NIT2 """nitrilase family, member 2"", ""omega-amidase NIT2""" Yes No Comparative Toxicogenomics Database:56954, Ensembl:ENSG00000114021, GeneCard:NIT2, HGNC:HGNC:29878, HumanCyc Gene:HS03733, ModBase:Q9NQR4, NCBI Gene:56954, RefSeq DNA:NT_005612, RefSeq Protein:NP_064587, RefSeq RNA:NM_020202, UniProtKB:Q9NQR4 No chr3 100053483 100075844 100334718 100355634 +PA162397562 79570 HGNC:25743 ENSG00000084628 sodium/potassium transporting ATPase interacting 1 NKAIN1 Na+/K+ transporting ATPase interacting 1, sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 FAM77C, FLJ12650 Yes No Ensembl:ENSG00000084628, GeneCard:NKAIN1, HGNC:HGNC:25743, HumanCyc Gene:HS12284, NCBI Gene:79570, OMIM:612871, RefSeq DNA:NT_032977, RefSeq Protein:NP_078798, RefSeq RNA:NM_024522 No chr1 31652592 31712734 31179270 31239887 +PA162397563 154215 HGNC:16443 ENSG00000188580 sodium/potassium transporting ATPase interacting 2 NKAIN2 Na+/K+ transporting ATPase interacting 2 FAM77B, TCBA1 Yes No Ensembl:ENSG00000188580, GeneCard:NKAIN2, HGNC:HGNC:16443, HumanCyc Gene:HS16656, NCBI Gene:154215, OMIM:609758, RefSeq DNA:NG_021365, RefSeq DNA:NT_025741, RefSeq Protein:NP_001035304, RefSeq Protein:NP_699186, RefSeq RNA:NM_001040214, RefSeq RNA:NM_153355, UniProtKB:Q5VXU1 No chr6 124124991 125146786 123803840 124825652 +PA162397582 286183 HGNC:26829 ENSG00000185942 sodium/potassium transporting ATPase interacting 3 NKAIN3 Na+/K+ transporting ATPase interacting 3 FAM77D, FLJ39630, NKAIN3-IT1 Yes Yes Ensembl:ENSG00000185942, GeneCard:NKAIN3, HGNC:HGNC:26829, HumanCyc Gene:HS11955, NCBI Gene:286183, OMIM:612872, RefSeq DNA:NT_008183, RefSeq Protein:NP_775959, RefSeq RNA:NM_173688, UniProtKB:Q8N8D7 No chr8 63161501 63912211 62248942 62999652 +PA162397583 128414 HGNC:16191 ENSG00000101198 sodium/potassium transporting ATPase interacting 4 NKAIN4 Na+/K+ transporting ATPase interacting 4 C20orf58, FAM77A, bA261N11.2 Yes No Ensembl:ENSG00000101198, GeneCard:NKAIN4, HGNC:HGNC:16191, HumanCyc Gene:HS12443, NCBI Gene:128414, OMIM:612873, RefSeq DNA:NT_011333, RefSeq Protein:NP_690603, RefSeq RNA:NM_152864, UniProtKB:B3KWY5, UniProtKB:Q8IVV8 No chr20 61872136 61885892 63240784 63254904 +PA162397584 79576 HGNC:29873 ENSG00000101882 NFKB activating protein NKAP NF kappaB activating protein FLJ22626 Yes No Ensembl:ENSG00000101882, GeneCard:NKAP, HGNC:HGNC:29873, HumanCyc Gene:HS12468, NCBI Gene:79576, OMIM:300766, RefSeq DNA:NG_021260, RefSeq DNA:NT_011786, RefSeq Protein:NP_078804, RefSeq RNA:NM_024528, UniProtKB:Q8N5F7 No chrX 119059013 119077735 119925050 119943772 +PA143485352 55216 HGNC:25569 ENSG00000150776 NKAP domain containing 1 NKAPD1 chromosome 11 open reading frame 57 C11orf57, FLJ10726 Yes No Ensembl:ENSG00000150776, GeneCard:C11orf57, HGNC:HGNC:25569, HumanCyc Gene:HS14340, ModBase:Q6ZUT1, NCBI Gene:55216, RefSeq DNA:NT_033899, RefSeq Protein:NP_001076438, RefSeq Protein:NP_001076439, RefSeq Protein:NP_060665, RefSeq RNA:NM_001082969, RefSeq RNA:NM_001082970, RefSeq RNA:NM_018195, UniProtKB:Q6ZUT1 No chr11 111944968 111955874 112074244 112085150 +PA162397607 222698 HGNC:21584 ENSG00000189134 NFKB activating protein like NKAPL NFKB activating protein-like C6orf194, bA424I5.1 Yes No Ensembl:ENSG00000189134, GeneCard:NKAPL, HGNC:HGNC:21584, NCBI Gene:222698, RefSeq DNA:NT_007592, RefSeq Protein:NP_001007532, RefSeq RNA:NM_001007531, UniProtKB:Q5M9Q1 No chr6 28227075 28228736 28259297 28260958 +PA134907845 158801 HGNC:26706 ENSG00000233382 NFKB activating protein pseudogene 1 NKAPP1 FLJ36576 Yes No Ensembl:ENSG00000233382, HGNC:HGNC:26706, NCBI Gene:158801, RefSeq DNA:NT_011786, RefSeq RNA:NR_027131, RefSeq RNA:XR_017748, RefSeq RNA:XR_017897, RefSeq RNA:XR_041218 No chrX 119370305 119379122 120236452 120245267 +PA31637 85407 HGNC:17045 ENSG00000140807 NKD inhibitor of WNT signaling pathway 1 NKD1 """NKD1, WNT signaling pathway inhibitor"", ""naked cuticle homolog 1 (Drosophila)""" Yes No Comparative Toxicogenomics Database:85407, Ensembl:ENSG00000140807, GenAtlas:NKD1, GeneCard:NKD1, HGNC:HGNC:17045, HumanCyc Gene:HS06759, ModBase:Q969G9, NCBI Gene:85407, OMIM:607851, RefSeq DNA:NT_010498, RefSeq Protein:NP_149110, RefSeq RNA:NM_033119, UCSC Genome Browser:NM_033119, UniProtKB:Q969G9 No chr16 50582241 50674771 50548330 50649249 +PA31638 85409 HGNC:17046 ENSG00000145506 NKD inhibitor of WNT signaling pathway 2 NKD2 """Dvl-binding protein NKD2"", ""NKD2, WNT signaling pathway inhibitor"", ""naked cuticle homolog 2 (Drosophila)"", ""naked cuticle-2""" Naked2 Yes No Comparative Toxicogenomics Database:85409, Ensembl:ENSG00000145506, GenAtlas:NKD2, GeneCard:NKD2, HGNC:HGNC:17046, HumanCyc Gene:HS14097, ModBase:Q969F2, NCBI Gene:85409, OMIM:607852, RefSeq DNA:NT_006576, RefSeq Protein:NP_149111, RefSeq RNA:NM_033120, UCSC Genome Browser:NM_033120, UniProtKB:Q969F2 No chr5 1008941 1038927 1008845 1038812 +PA31639 4818 HGNC:7830 ENSG00000105374 natural killer cell granule protein 7 NKG7 granule membrane protein 17, natural killer cell group 7 sequence GIG1, GMP-17 Yes No Comparative Toxicogenomics Database:4818, Ensembl:ENSG00000105374, GenAtlas:NKG7, GeneCard:NKG7, HGNC:HGNC:7830, HumanCyc Gene:HS02725, ModBase:Q16617, NCBI Gene:4818, OMIM:606008, RefSeq DNA:NT_011109, RefSeq Protein:NP_005592, RefSeq RNA:NM_005601, UCSC Genome Browser:NM_005601, UniProtKB:Q16617 No chr19 51874874 51875976 51371616 51372706 +PA134958823 28512 HGNC:17899 ENSG00000197885 NFKB inhibitor interacting Ras like 1 NKIRAS1 NFKB inhibitor interacting Ras-like 1 KBRAS1, kappaB-Ras1 Yes No Ensembl:ENSG00000197885, GeneCard:NKIRAS1, HGNC:HGNC:17899, ModBase:Q9NYS0, NCBI Gene:28512, OMIM:604496, RefSeq DNA:NT_022517, RefSeq Protein:NP_065078, RefSeq RNA:NM_020345, UniProtKB:Q9NYS0 No chr3 23933552 23958537 23889536 23917046 +PA134968907 28511 HGNC:17898 ENSG00000168256 NFKB inhibitor interacting Ras like 2 NKIRAS2 NFKB inhibitor interacting Ras-like 2 DKFZP434N1526, KBRAS2, kappaB-Ras2 Yes No Comparative Toxicogenomics Database:28511, Ensembl:ENSG00000168256, GeneCard:NKIRAS2, HGNC:HGNC:17898, HumanCyc Gene:HS09717, ModBase:Q9NYR9, NCBI Gene:28511, OMIM:604497, RefSeq DNA:NT_010783, RefSeq Protein:NP_001001349, RefSeq Protein:NP_001138399, RefSeq Protein:NP_001138400, RefSeq Protein:NP_001138401, RefSeq Protein:NP_060065, RefSeq RNA:NM_001001349, RefSeq RNA:NM_001144927, RefSeq RNA:NM_001144928, RefSeq RNA:NM_001144929, RefSeq RNA:NM_017595, UniProtKB:B4DNM3, UniProtKB:Q9NYR9 No chr17 40169594 40177659 42017576 42025641 +PA134993651 284353 HGNC:24739 ENSG00000179846 NTPase KAP family P-loop domain containing 1 NKPD1 NTPase, KAP family P-loop domain containing 1 FLJ33600 Yes No Ensembl:ENSG00000179846, GeneCard:NKPD1, HGNC:HGNC:24739, ModBase:Q17RQ9, NCBI Gene:284353, RefSeq DNA:NT_011109, RefSeq Protein:NP_001124539, RefSeq Protein:NP_940880, RefSeq RNA:NM_001131067, RefSeq RNA:NM_198478, UniProtKB:D6RH15 No chr19 45653008 45663408 45149750 45162831 +PA134990602 55922 HGNC:19374 ENSG00000186416 NFKB repressing factor NKRF ITBA4, NRF Yes No Ensembl:ENSG00000186416, GeneCard:NKRF, HGNC:HGNC:19374, HumanCyc Gene:HS10251, ModBase:O15226, NCBI Gene:55922, OMIM:300440, RefSeq DNA:NG_016800, RefSeq DNA:NT_011786, RefSeq Protein:NP_001404819, RefSeq RNA:NM_001417890, UniProtKB:A3F768, UniProtKB:A3F769, UniProtKB:O15226 No chrX 118722300 118739846 119588337 119606464 +PA31641 4820 HGNC:7833 ENSG00000114857 natural killer cell triggering receptor NKTR NK-TR protein, NK-tumor recognition protein, natural killer triggering receptor, natural killer-tumor recognition sequence, natural-killer cells cyclophilin-related protein CypNK, p104 Yes No Comparative Toxicogenomics Database:4820, Ensembl:ENSG00000114857, GenAtlas:NKTR, GeneCard:NKTR, HGNC:HGNC:7833, HumanCyc Gene:HS03810, ModBase:P30414, NCBI Gene:4820, OMIM:161565, RefSeq DNA:NT_022517, RefSeq Protein:NP_005376, RefSeq RNA:NM_005385, UCSC Genome Browser:NM_005385, UniProtKB:P30414 No chr3 42642147 42690233 42600655 42648741 +PA145148380 54729 HGNC:24975 ENSG00000235608 NK1 homeobox 1 NKX1-1 HSPX153, SAX2 Yes No Ensembl:ENSG00000235608, GeneCard:NKX1-1, HGNC:HGNC:24975, NCBI Gene:54729, RefSeq DNA:NT_037622, RefSeq Protein:XP_001715861, RefSeq Protein:XP_931434, RefSeq Protein:XP_942752, RefSeq RNA:XM_001715809, RefSeq RNA:XM_926341, RefSeq RNA:XM_937659, UniProtKB:Q15270 No chr4 +PA134977174 390010 HGNC:31652 ENSG00000229544 NK1 homeobox 2 NKX1-2 C10orf121, bB238F13.2 Yes No Comparative Toxicogenomics Database:390010, Ensembl:ENSG00000229544, GeneCard:NKX1-2, HGNC:HGNC:31652, NCBI Gene:390010, RefSeq DNA:NT_030059, RefSeq Protein:NP_001139812, RefSeq Protein:XP_002343058, RefSeq Protein:XP_002344570, RefSeq Protein:XP_002347203, RefSeq RNA:NM_001146340, RefSeq RNA:XM_002343017, RefSeq RNA:XM_002344529, RefSeq RNA:XM_002347162, UniProtKB:Q9UD57 No chr10 126135998 126138550 124447429 124449981 +PA36531 7080 HGNC:11825 ENSG00000136352 NK2 homeobox 1 NKX2-1 BCH, NKX2A, TITF1, TTF-1, TTF1 Yes No Comparative Toxicogenomics Database:7080, Ensembl:ENSG00000136352, GenAtlas:TITF1, GeneCard:NKX2-1, GeneCard:TITF1, HGNC:HGNC:11825, HumanCyc Gene:HS06150, NCBI Gene:7080, OMIM:118700, OMIM:600635, OMIM:610978, RefSeq DNA:NG_013365, RefSeq DNA:NT_026437, RefSeq Protein:NP_001073136, RefSeq Protein:NP_003308, RefSeq Protein:XP_002344812, RefSeq RNA:NM_001079668, RefSeq RNA:NM_003317, RefSeq RNA:XM_002344771, UCSC Genome Browser:NM_003317, UniProtKB:P43699 No chr14 36985602 36990894 36516397 36520225 +PA31642 4821 HGNC:7835 ENSG00000125820 NK2 homeobox 2 NKX2-2 NKX2.2, NKX2B Yes No Comparative Toxicogenomics Database:4821, Ensembl:ENSG00000125820, GenAtlas:NKX2-2, GeneCard:NKX2-2, HGNC:HGNC:7835, HumanCyc Gene:HS04944, ModBase:O95096, NCBI Gene:4821, OMIM:604612, RefSeq DNA:NT_011387, RefSeq Protein:NP_002500, RefSeq RNA:NM_002509, UCSC Genome Browser:NM_002509, UniProtKB:O95096 No chr20 21491655 21494664 21511010 21514026 +PA31643 159296 HGNC:7836 ENSG00000119919 NK2 homeobox 3 NKX2-3 CSX3, NKX2.3, NKX2C, NKX4-3 Yes No Comparative Toxicogenomics Database:159296, Ensembl:ENSG00000119919, GenAtlas:NKX2-3, GeneCard:NKX2-3, HGNC:HGNC:7836, HumanCyc Gene:HS04348, ModBase:Q8TAU0, NCBI Gene:159296, OMIM:606727, RefSeq DNA:NG_016854, RefSeq DNA:NT_030059, RefSeq Protein:NP_660328, RefSeq RNA:NM_145285, UCSC Genome Browser:NM_145285, UniProtKB:Q8TAU0 No chr10 101292690 101296281 99532933 99536524 +PA31644 644524 HGNC:7837 ENSG00000125816 NK2 homeobox 4 NKX2-4 NKX2.4, NKX2D Yes No Ensembl:ENSG00000125816, GenAtlas:NKX2-4, GeneCard:NKX2-4, HGNC:HGNC:7837, ModBase:Q9H2Z4, NCBI Gene:644524, OMIM:607808, RefSeq DNA:NT_011387, RefSeq Protein:NP_149416, RefSeq RNA:NM_033176, UniProtKB:Q9H2Z4 No chr20 21376005 21378047 21395367 21397409 +PA24202 1482 HGNC:2488 ENSG00000183072 NK2 homeobox 5 NKX2-5 tinman (Drosophila) homolog, tinman paralog (Drosophila) CSX, CSX1, NKX2.5, NKX2E, NKX4-1 Yes No Comparative Toxicogenomics Database:1482, Ensembl:ENSG00000183072, GeneCard:NKX2-5, HGNC:HGNC:2488, ModBase:P52952, NCBI Gene:1482, OMIM:108900, OMIM:187500, OMIM:225250, OMIM:600584, RefSeq DNA:NG_013340, RefSeq DNA:NT_023133, RefSeq Protein:NP_001159647, RefSeq Protein:NP_001159648, RefSeq Protein:NP_004378, RefSeq RNA:NM_001166175, RefSeq RNA:NM_001166176, RefSeq RNA:NM_004387, UCSC Genome Browser:NM_004387, UniProtKB:B4DNB6, UniProtKB:P52952 No chr5 172659107 172662315 173232104 173235312 +PA145148392 137814 HGNC:32940 ENSG00000180053 NK2 homeobox 6 NKX2-6 tinman (Drosophila) homolog, tinman paralog (Drosophila) CSX2, NKX4-2 Yes Yes Comparative Toxicogenomics Database:137814, Ensembl:ENSG00000180053, GeneCard:NKX2-6, HGNC:HGNC:32940, ModBase:A6NCS4, NCBI Gene:137814, OMIM:217095, OMIM:611770, RefSeq DNA:NT_167187, RefSeq Protein:NP_001129743, RefSeq RNA:NM_001136271, UniProtKB:C9JML6 No chr8 23559964 23564111 23702451 23706598 +PA38402 26257 HGNC:16364 ENSG00000136327 NK2 homeobox 8 NKX2-8 NKX2.8, NKX2H, Nkx2-9 Yes No Ensembl:ENSG00000136327, GenAtlas:NKX2-8, GeneCard:NKX2-8, HGNC:HGNC:16364, HumanCyc Gene:HS06149, ModBase:O15522, NCBI Gene:26257, OMIM:603245, RefSeq DNA:NT_026437, RefSeq Protein:NP_055175, RefSeq RNA:NM_014360, UCSC Genome Browser:NM_014360, UniProtKB:O15522 No chr14 37049216 37051786 36580011 36582614 +PA31645 4824 HGNC:7838 ENSG00000167034 NK3 homeobox 1 NKX3-1 BAPX2, NKX3.1, NKX3A Yes No Comparative Toxicogenomics Database:4824, Ensembl:ENSG00000167034, GenAtlas:NKX3-1, GeneCard:NKX3-1, HGNC:HGNC:7838, HumanCyc Gene:HS09502, ModBase:Q99801, NCBI Gene:4824, OMIM:602041, RefSeq DNA:NT_167187, RefSeq Protein:NP_006158, RefSeq RNA:NM_006167, UCSC Genome Browser:NM_006167, UniProtKB:Q99801 No chr8 23536206 23540450 23678693 23682937 +PA162397617 579 HGNC:951 ENSG00000109705 NK3 homeobox 2 NKX3-2 BAPX1, NKX3.2, NKX3B Yes No Ensembl:ENSG00000109705, GeneCard:NKX3-2, HGNC:HGNC:951, HumanCyc Gene:HS03251, ModBase:P78367, NCBI Gene:579, OMIM:602183, OMIM:613330, RefSeq DNA:NG_023192, RefSeq DNA:NT_006316, RefSeq Protein:NP_001180, RefSeq RNA:NM_001189, UniProtKB:P78367 No chr4 13542454 13546114 13540830 13544490 +PA31646 4825 HGNC:7839 ENSG00000163623 NK6 homeobox 1 NKX6-1 NKX6A, Nkx6.1 Yes No Ensembl:ENSG00000163623, GenAtlas:NKX6-1, GeneCard:NKX6-1, HGNC:HGNC:7839, HumanCyc Gene:HS08894, ModBase:P78426, NCBI Gene:4825, OMIM:602563, RefSeq DNA:NT_016354, RefSeq Protein:NP_006159, RefSeq RNA:NM_006168, UCSC Genome Browser:NM_006168, UniProtKB:P78426 No chr4 85414436 85419387 84493283 84498234 +PA134896334 84504 HGNC:19321 ENSG00000148826 NK6 homeobox 2 NKX6-2 GTX, NKX6.1, NKX6B Yes No Comparative Toxicogenomics Database:84504, Ensembl:ENSG00000148826, GeneCard:NKX6-2, HGNC:HGNC:19321, ModBase:Q9C056, NCBI Gene:84504, OMIM:605955, RefSeq DNA:NT_008818, RefSeq Protein:NP_796374, RefSeq RNA:NM_177400, UniProtKB:Q9C056 No chr10 134598320 134599537 132783179 132786033 +PA145148400 157848 HGNC:26328 ENSG00000165066 NK6 homeobox 3 NKX6-3 FLJ25169 Yes No Ensembl:ENSG00000165066, GeneCard:NKX6-3, HGNC:HGNC:26328, HumanCyc Gene:HS09179, NCBI Gene:157848, OMIM:610772, RefSeq DNA:NT_167187, RefSeq Protein:NP_689781, RefSeq RNA:NM_152568, UniProtKB:A6NJ46 No chr8 41503829 41508011 41645177 41650818 +PA142671263 54475 HGNC:19889 ENSG00000073536 notchless homolog 1 NLE1 """Notchless gene homolog, (Drosophila)"", ""notchless homolog 1 (Drosophila)""" FLJ10458, NLE, Rsa4 Yes No Comparative Toxicogenomics Database:54475, Ensembl:ENSG00000073536, GeneCard:NLE1, HGNC:HGNC:19889, HumanCyc Gene:HS01105, ModBase:Q9NVX2, NCBI Gene:54475, RefSeq DNA:NT_010799, RefSeq Protein:NP_001014445, RefSeq Protein:NP_060566, RefSeq RNA:NM_001014445, RefSeq RNA:NM_018096, UniProtKB:Q9NVX2 No chr17 33458368 33469322 35128755 35142315 +PA31647 22871 HGNC:14291 ENSG00000169760 neuroligin 1 NLGN1 KIAA1070, NLG1 Yes Yes Ensembl:ENSG00000169760, GenAtlas:NLGN1, GeneCard:NLGN1, HGNC:HGNC:14291, HumanCyc Gene:HS10004, ModBase:Q8N2Q7, NCBI Gene:22871, OMIM:600568, RefSeq DNA:NT_005612, RefSeq Protein:NP_055747, RefSeq RNA:NM_014932, UCSC Genome Browser:NM_014932, UniProtKB:Q8N2Q7 No chr3 173115570 174004434 173395899 174291287 +PA31648 57555 HGNC:14290 ENSG00000169992 neuroligin 2 NLGN2 KIAA1366 Yes No Ensembl:ENSG00000169992, GenAtlas:NLGN2, GeneCard:NLGN2, HGNC:HGNC:14290, HumanCyc Gene:HS10052, ModBase:Q8NFZ4, NCBI Gene:57555, OMIM:606479, RefSeq DNA:NT_010718, RefSeq Protein:NP_065846, RefSeq RNA:NM_020795, UCSC Genome Browser:NM_020795, UniProtKB:Q8NFZ4 No chr17 7311502 7323183 7405492 7419864 +PA31649 54413 HGNC:14289 ENSG00000196338 neuroligin 3 NLGN3 ASPGX1, AUTSX1, HNL3, KIAA1480 Yes No Comparative Toxicogenomics Database:54413, Ensembl:ENSG00000196338, GenAtlas:NLGN3, GeneCard:NLGN3, HGNC:HGNC:14289, ModBase:Q9NZ94, NCBI Gene:54413, OMIM:300336, OMIM:300425, OMIM:300494, RefSeq DNA:NG_015874, RefSeq DNA:NT_011669, RefSeq Protein:NP_001160132, RefSeq Protein:NP_061850, RefSeq Protein:NP_851820, RefSeq RNA:NM_001166660, RefSeq RNA:NM_018977, RefSeq RNA:NM_181303, UCSC Genome Browser:NM_018977, UniProtKB:D2X2H6, UniProtKB:Q4G160, UniProtKB:Q86V51, UniProtKB:Q9NZ94 No chrX 70364681 70391682 71144389 71175307 +PA31650 57502 HGNC:14287 ENSG00000146938 neuroligin 4 X-linked NLGN4X neuroligin 4, X-linked HLNX, KIAA1260, NLGN, NLGN4 Yes No Comparative Toxicogenomics Database:57502, Ensembl:ENSG00000146938, GenAtlas:NLGN4X, GeneCard:NLGN4X, HGNC:HGNC:14287, HumanCyc Gene:HS07381, ModBase:Q8N0W4, NCBI Gene:57502, OMIM:300427, OMIM:300495, OMIM:300497, RefSeq DNA:NG_008881, RefSeq DNA:NT_167197, RefSeq Protein:NP_065793, RefSeq Protein:NP_851849, RefSeq RNA:NM_020742, RefSeq RNA:NM_181332, UCSC Genome Browser:NM_020742, UniProtKB:Q8N0W4 No chrX 5808067 6146916 5890026 6228882 +PA38386 22829 HGNC:15529 ENSG00000165246 neuroligin 4 Y-linked NLGN4Y neuroligin 4, Y-linked KIAA0951 Yes No Ensembl:ENSG00000165246, GenAtlas:NLGN4Y, GeneCard:NLGN4Y, HGNC:HGNC:15529, ModBase:Q8NFZ3, NCBI Gene:22829, OMIM:400028, RefSeq DNA:NT_011875, RefSeq Protein:NP_001157710, RefSeq Protein:NP_001193779, RefSeq Protein:NP_055708, RefSeq RNA:NM_001164238, RefSeq RNA:NM_001206850, RefSeq RNA:NM_014893, RefSeq RNA:NR_028318, RefSeq RNA:NR_028319, UCSC Genome Browser:NM_014893, UniProtKB:Q8N5B6, UniProtKB:Q8NFZ3 No chrY 16634488 16956825 14522578 14844945 +PA134914500 51701 HGNC:29858 ENSG00000087095 nemo like kinase NLK nemo-like kinase Yes No Comparative Toxicogenomics Database:51701, Ensembl:ENSG00000087095, GeneCard:NLK, HGNC:HGNC:29858, HumanCyc Gene:HS01556, ModBase:Q9UBE8, NCBI Gene:51701, OMIM:609476, RefSeq DNA:NT_010799, RefSeq Protein:NP_057315, RefSeq RNA:NM_016231, UniProtKB:Q9UBE8 No chr17 26369009 26523407 28042647 28205140 +PA31651 57486 HGNC:16058 ENSG00000123213 neurolysin NLN neurolysin (metallopeptidase M3 family), neurotensin endopeptidase AGTBP, KIAA1226 Yes No Comparative Toxicogenomics Database:57486, Ensembl:ENSG00000123213, GenAtlas:NLN, GeneCard:NLN, HGNC:HGNC:16058, HumanCyc Gene:HS04642, ModBase:Q9BYT8, NCBI Gene:57486, OMIM:611530, RefSeq DNA:NT_006713, RefSeq Protein:NP_065777, RefSeq RNA:NM_020726, UCSC Genome Browser:NM_020726, UniProtKB:Q9BYT8 No chr5 65018023 65125111 65722196 65829283 +PA162397626 197358 HGNC:29889 ENSG00000167984 NLR family CARD domain containing 3 NLRC3 """NLR family, CARD domain containing 3"", ""NOD-like receptor C3"", ""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3""" CLR16.2, FLJ00348, NOD3 Yes No Ensembl:ENSG00000167984, GeneCard:NLRC3, HGNC:HGNC:29889, ModBase:Q7RTR2, NCBI Gene:197358, RefSeq DNA:NT_010393, RefSeq Protein:NP_849172, RefSeq RNA:NM_178844, UniProtKB:C3VPR7, UniProtKB:Q7RTR2 No chr16 3589033 3627392 3538272 3578373 +PA162397671 58484 HGNC:16412 ENSG00000091106 NLR family CARD domain containing 4 NLRC4 """NLR family, CARD domain containing 4"", ""NOD-like receptor C4"", ""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4""" CARD12, CLAN, CLAN1, CLANA, CLANB, CLANC, CLAND, CLR2.1, ipaf Yes No Ensembl:ENSG00000091106, GeneCard:NLRC4, HGNC:HGNC:16412, HumanCyc Gene:HS01720, ModBase:Q9NPP4, NCBI Gene:58484, OMIM:606831, RefSeq DNA:NT_022184, RefSeq Protein:NP_001186067, RefSeq Protein:NP_001186068, RefSeq Protein:NP_067032, RefSeq RNA:NM_001199138, RefSeq RNA:NM_001199139, RefSeq RNA:NM_021209, UniProtKB:Q9NPP4 No chr2 32449518 32490812 32224449 32265743 +PA162397694 84166 HGNC:29933 ENSG00000140853 NLR family CARD domain containing 5 NLRC5 """NLR family, CARD domain containing 5"", ""NOD-like receptor C5"", ""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5""" CLR16.1, FLJ21709, NOD27 Yes No Ensembl:ENSG00000140853, GeneCard:NLRC5, HGNC:HGNC:29933, NCBI Gene:84166, RefSeq DNA:NT_010498, RefSeq Protein:NP_115582, RefSeq RNA:NM_032206, UniProtKB:Q86WI3, UniProtKB:Q9H6Y0 No chr16 57023469 57117438 56989547 57083524 +PA162397797 22861 HGNC:14374 ENSG00000091592 NLR family pyrin domain containing 1 NLRP1 """NLR family, pyrin domain containing 1"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1""" CARD7, CLR17.1, DEFCAP, DKFZp586O1822, KIAA0926, NAC, NALP1, SLEV1, VAMAS1 Yes No Ensembl:ENSG00000091592, GeneCard:NLRP1, HGNC:HGNC:14374, HumanCyc Gene:HS01740, ModBase:Q9C000, NCBI Gene:22861, OMIM:606579, OMIM:606636, RefSeq DNA:NG_011651, RefSeq DNA:NT_010718, RefSeq Protein:NP_001028225, RefSeq Protein:NP_055737, RefSeq Protein:NP_127497, RefSeq Protein:NP_127499, RefSeq Protein:NP_127500, RefSeq RNA:NM_001033053, RefSeq RNA:NM_014922, RefSeq RNA:NM_033004, RefSeq RNA:NM_033006, RefSeq RNA:NM_033007, UniProtKB:Q9C000 No chr17 5404719 5487832 5501399 5584512 +PA162397832 338322 HGNC:21464 ENSG00000182261 NLR family pyrin domain containing 10 NLRP10 """NLR family, pyrin domain containing 10"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10""" CLR11.1, NALP10, NOD8, PAN5, Pynod Yes No Ensembl:ENSG00000182261, GeneCard:NLRP10, HGNC:HGNC:21464, ModBase:Q86W26, NCBI Gene:338322, OMIM:609662, RefSeq DNA:NT_009237, RefSeq Protein:NP_789791, RefSeq RNA:NM_176821, UniProtKB:Q86W26 No chr11 7981156 7985059 7959023 7965427 +PA162397841 204801 HGNC:22945 ENSG00000179873 NLR family pyrin domain containing 11 NLRP11 """NLR family, pyrin domain containing 11"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11""" CLR19.6, NALP11, NOD17, PAN10, PYPAF6 Yes No Ensembl:ENSG00000179873, GeneCard:NLRP11, HGNC:HGNC:22945, HumanCyc Gene:HS11420, ModBase:P59045, NCBI Gene:204801, OMIM:609664, RefSeq DNA:NT_011109, RefSeq Protein:NP_659444, RefSeq RNA:NM_145007, UniProtKB:P59045 No chr19 56296763 56348128 55785397 55836762 +PA162397866 91662 HGNC:22938 ENSG00000142405 NLR family pyrin domain containing 12 NLRP12 """NLR family, pyrin domain containing 12"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12""" CLR19.3, Monarch1, NALP12, PAN6, PYPAF7, RNO2 Yes No Ensembl:ENSG00000142405, GeneCard:NLRP12, HGNC:HGNC:22938, HumanCyc Gene:HS06922, ModBase:P59046, NCBI Gene:91662, OMIM:609648, OMIM:611762, RefSeq DNA:NG_008651, RefSeq DNA:NT_011109, RefSeq Protein:NP_150639, RefSeq Protein:NP_653288, RefSeq RNA:NM_033297, RefSeq RNA:NM_144687, UniProtKB:P59046 No chr19 54296838 54327657 53793584 53824403 +PA162397891 126204 HGNC:22937 ENSG00000173572 NLR family pyrin domain containing 13 NLRP13 """NLR family, pyrin domain containing 13"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13""" CLR19.7, NALP13, NOD14, PAN13 Yes No Ensembl:ENSG00000173572, GeneCard:NLRP13, HGNC:HGNC:22937, ModBase:Q86W25, NCBI Gene:126204, OMIM:609660, RefSeq DNA:NT_011109, RefSeq Protein:NP_789780, RefSeq RNA:NM_176810, UniProtKB:Q86W25 No chr19 56403058 56443702 55891692 55932336 +PA162397917 338323 HGNC:22939 ENSG00000158077 NLR family pyrin domain containing 14 NLRP14 """NLR family, pyrin domain containing 14"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14""" CLR11.2, GC-LRR, NALP14, NOD5, Nalp-iota, PAN8 Yes No Ensembl:ENSG00000158077, GeneCard:NLRP14, HGNC:HGNC:22939, ModBase:Q86W24, NCBI Gene:338323, OMIM:609665, RefSeq DNA:NT_009237, RefSeq Protein:NP_789792, RefSeq RNA:NM_176822, UniProtKB:Q86W24 No chr11 7041700 7092757 7020446 7089025 +PA162397946 55655 HGNC:22948 ENSG00000022556 NLR family pyrin domain containing 2 NLRP2 """NLR family, pyrin domain containing 2"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2""" CLR19.9, FLJ20510, NALP2, NBS1, PAN1, PYPAF2 Yes No Ensembl:ENSG00000022556, GeneCard:NLRP2, HGNC:HGNC:22948, HumanCyc Gene:HS00419, ModBase:Q9NX02, NCBI Gene:55655, OMIM:609364, RefSeq DNA:NT_011109, RefSeq Protein:NP_001167552, RefSeq Protein:NP_001167553, RefSeq Protein:NP_001167554, RefSeq Protein:NP_060322, RefSeq RNA:NM_001174081, RefSeq RNA:NM_001174082, RefSeq RNA:NM_001174083, RefSeq RNA:NM_017852, UniProtKB:B4DZL7, UniProtKB:Q9NX02 No chr19 55476652 55512510 54965284 55001142 +PA166181581 286430 HGNC:29887 ENSG00000215174 NLR family pyrin domain containing 2B NLRP2B CLRX.1, NALP2P, NLRP2P, NOD24, POP4 Yes No Ensembl:ENSG00000215174, HGNC:HGNC:29887, NCBI Gene:286430 No 0 0 0 0 +PA26512 114548 HGNC:16400 ENSG00000162711 NLR family pyrin domain containing 3 NLRP3 """Cryopyrin"", ""NLR family, pyrin domain containing 3"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3""" AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, DFNA34, FCAS, FCU, MWS, NALP3, PYPAF1 Yes Yes Comparative Toxicogenomics Database:114548, Ensembl:ENSG00000162711, GenAtlas:CIAS1, GeneCard:NLRP3, HGNC:HGNC:16400, HumanCyc Gene:HS08725, ModBase:Q8TEU9, NCBI Gene:114548, OMIM:120100, OMIM:191900, OMIM:606416, OMIM:607115, RefSeq DNA:NG_007509, RefSeq DNA:NT_167186, RefSeq Protein:NP_001073289, RefSeq Protein:NP_001120933, RefSeq Protein:NP_001120934, RefSeq Protein:NP_004886, RefSeq Protein:NP_899632, RefSeq RNA:NM_001079821, RefSeq RNA:NM_001127461, RefSeq RNA:NM_001127462, RefSeq RNA:NM_004895, RefSeq RNA:NM_183395, UCSC Genome Browser:NM_004895, UniProtKB:B2RC97, UniProtKB:Q96P20 No chr1 247579247 247612410 247416156 247449108 +PA162397947 147945 HGNC:22943 ENSG00000160505 NLR family pyrin domain containing 4 NLRP4 """NLR family, pyrin domain containing 4"", ""cancer/testis antigen 58"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4""" CLR19.5, CT58, FLJ32126, NALP4, PAN2, PYPAF4, RNH2 Yes No Ensembl:ENSG00000160505, GeneCard:NLRP4, HGNC:HGNC:22943, HumanCyc Gene:HS14816, ModBase:Q96MN2, NCBI Gene:147945, OMIM:609645, RefSeq DNA:NT_011109, RefSeq Protein:NP_604393, RefSeq RNA:NM_134444, UniProtKB:B2RCA1, UniProtKB:Q96MN2 No chr19 56347944 56393221 55836578 55881855 +PA162397970 126206 HGNC:21269 ENSG00000171487 NLR family pyrin domain containing 5 NLRP5 """NLR family, pyrin domain containing 5"", ""maternal antigen that embryos require"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5""" CLR19.8, MATER, NALP5, PAN11, PYPAF8 Yes No Ensembl:ENSG00000171487, GeneCard:NLRP5, HGNC:HGNC:21269, HumanCyc Gene:HS10320, ModBase:P59047, NCBI Gene:126206, OMIM:609658, RefSeq DNA:NT_011109, RefSeq Protein:NP_703148, RefSeq RNA:NM_153447, UniProtKB:P59047 No chr19 56511092 56573176 55999726 56061810 +PA162398002 171389 HGNC:22944 ENSG00000174885 NLR family pyrin domain containing 6 NLRP6 """NLR family, pyrin domain containing 6"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6""" CLR11.4, NALP6, PAN3, PYPAF5 Yes No Ensembl:ENSG00000174885, GeneCard:NLRP6, HGNC:HGNC:22944, HumanCyc Gene:HS10842, ModBase:P59044, NCBI Gene:171389, OMIM:609650, RefSeq DNA:NT_009237, RefSeq Protein:NP_612202, RefSeq RNA:NM_138329, UniProtKB:P59044 No chr11 278570 285388 278365 285942 +PA162398003 199713 HGNC:22947 ENSG00000167634 NLR family pyrin domain containing 7 NLRP7 """NLR family, pyrin domain containing 7"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7""" CLR19.4, NALP7, NOD12, PAN7, PYPAF3 Yes No Ensembl:ENSG00000167634, GeneCard:NLRP7, HGNC:HGNC:22947, HumanCyc Gene:HS09593, ModBase:Q8WX94, NCBI Gene:199713, OMIM:231090, OMIM:609661, RefSeq DNA:NG_008056, RefSeq DNA:NT_011109, RefSeq Protein:NP_001120727, RefSeq Protein:NP_631915, RefSeq Protein:NP_996611, RefSeq RNA:NM_001127255, RefSeq RNA:NM_139176, RefSeq RNA:NM_206828, UniProtKB:Q32MH8, UniProtKB:Q8WX94 No chr19 55434857 55477611 54923509 54965184 +PA162398028 126205 HGNC:22940 ENSG00000179709 NLR family pyrin domain containing 8 NLRP8 """NLR family, pyrin domain containing 8"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8""" CLR19.2, NALP8, NOD16, PAN4 Yes Yes Ensembl:ENSG00000179709, GeneCard:NLRP8, HGNC:HGNC:22940, ModBase:Q86W28, NCBI Gene:126205, OMIM:609659, RefSeq DNA:NT_011109, RefSeq Protein:NP_789781, RefSeq RNA:NM_176811, UniProtKB:Q86W28 No chr19 56459198 56499995 55947832 55988629 +PA162398029 338321 HGNC:22941 ENSG00000185792 NLR family pyrin domain containing 9 NLRP9 """NLR family, pyrin domain containing 9"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9""" CLR19.1, NALP9, NOD6, PAN12 Yes No Ensembl:ENSG00000185792, GeneCard:NLRP9, HGNC:HGNC:22941, ModBase:Q7RTR0, NCBI Gene:338321, OMIM:609663, RefSeq DNA:NT_011109, RefSeq Protein:NP_789790, RefSeq RNA:NM_176820, UniProtKB:Q7RTR0 No chr19 56219798 56249768 55708432 55738402 +PA162398052 79671 HGNC:29890 ENSG00000160703 NLR family member X1 NLRX1 """NLR family, X1"", ""NOD-like receptor X1"", ""nucleotide-binding oligomerization domain, leucine rich repeat containing X1""" CLR11.3, NOD9 Yes No Ensembl:ENSG00000160703, GeneCard:NLRX1, HGNC:HGNC:29890, HumanCyc Gene:HS14824, ModBase:Q86UT6, NCBI Gene:79671, OMIM:611947, RefSeq DNA:NT_033899, RefSeq Protein:NP_078894, RefSeq Protein:NP_733840, RefSeq RNA:NM_024618, RefSeq RNA:NM_170722, UniProtKB:Q86UT6 No chr11 119039036 119054725 119168334 119184016 +PA31654 4828 HGNC:7842 ENSG00000197696 neuromedin B NMB MGC17211, MGC2277, MGC3936 Yes No Comparative Toxicogenomics Database:4828, Ensembl:ENSG00000197696, GenAtlas:NMB, GeneCard:NMB, HGNC:HGNC:7842, NCBI Gene:4828, OMIM:162340, RefSeq DNA:NT_010274, RefSeq Protein:NP_066563, RefSeq Protein:NP_995580, RefSeq RNA:NM_021077, RefSeq RNA:NM_205858, UCSC Genome Browser:NM_021077, UniProtKB:P08949 No chr15 85198360 85201802 84655129 84658611 +PA31655 4829 HGNC:7843 ENSG00000135577 neuromedin B receptor NMBR bombesin receptor 1 BB1, BB1R, BRS1 Yes No Comparative Toxicogenomics Database:4829, Ensembl:ENSG00000135577, GenAtlas:NMBR, GeneCard:NMBR, HGNC:HGNC:7843, HumanCyc Gene:HS06030, IUPHAR Receptor:38, ModBase:P28336, NCBI Gene:4829, OMIM:162341, RefSeq DNA:NT_025741, RefSeq Protein:NP_002502, RefSeq RNA:NM_002511, UCSC Genome Browser:NM_002511, UniProtKB:P28336 No chr6 142396745 142409936 142074484 142147205 +PA134884140 51068 HGNC:24250 ENSG00000169251 NMD3 ribosome export adaptor NMD3 NMD3 homolog (S. cerevisiae) CGI-07 Yes No Comparative Toxicogenomics Database:51068, Ensembl:ENSG00000169251, GeneCard:NMD3, HGNC:HGNC:24250, HumanCyc Gene:HS09916, ModBase:Q96D46, NCBI Gene:51068, OMIM:611021, RefSeq DNA:NT_005612, RefSeq Protein:NP_057022, RefSeq RNA:NM_015938, UniProtKB:Q96D46 No chr3 160939050 160970082 161221262 161253532 +PA249 4830 HGNC:7849 ENSG00000239672 NME/NM23 nucleoside diphosphate kinase 1 NME1 NDPKA, NM23, NM23-H1 Yes Yes Comparative Toxicogenomics Database:4830, Ensembl:ENSG00000239672, GenAtlas:NME1, GeneCard:NME1, HGNC:HGNC:7849, HumanCyc Gene:HS00300, ModBase:P15531, NCBI Gene:4830, OMIM:156490, OMIM:256700, RefSeq DNA:NG_021169, RefSeq DNA:NT_010783, RefSeq Protein:NP_000260, RefSeq Protein:NP_937818, RefSeq RNA:NM_000269, RefSeq RNA:NM_198175, UCSC Genome Browser:NM_000269, UniProtKB:P15531 No chr17 49230920 49239450 51153559 51162089 +PA162398077 654364 HGNC:33531 ENSG00000011052 NME1-NME2 readthrough NME1-NME2 NM23-LV, NMELV Yes Yes Ensembl:ENSG00000011052, GeneCard:NME1-NME2, HGNC:HGNC:33531, NCBI Gene:654364, RefSeq DNA:NT_010783, RefSeq Protein:NP_001018146, RefSeq RNA:NM_001018136, RefSeq RNA:NR_037149, UniProtKB:P22392 No chr17 49230897 49249105 51153536 51171744 +PA250 4831 HGNC:7850 ENSG00000243678 NME/NM23 nucleoside diphosphate kinase 2 NME2 NDPKB, NM23-H2 Yes No Comparative Toxicogenomics Database:4831, Ensembl:ENSG00000243678, GenAtlas:NME2, GeneCard:NME2, HGNC:HGNC:7850, HumanCyc Gene:HS04463, ModBase:P22392, NCBI Gene:4831, OMIM:156491, RefSeq DNA:NT_010783, RefSeq Protein:NP_001018147, RefSeq Protein:NP_001018148, RefSeq Protein:NP_001018149, RefSeq Protein:NP_001185611, RefSeq Protein:NP_002503, RefSeq RNA:NM_001018137, RefSeq RNA:NM_001018138, RefSeq RNA:NM_001018139, RefSeq RNA:NM_001198682, RefSeq RNA:NM_002512, UCSC Genome Browser:NM_002512, UniProtKB:Q6FHN3 No chr17 49242796 49249105 51165435 51171744 +PA134929506 283458 HGNC:31358 ENSG00000123009 NME/NM23 nucleoside diphosphate kinase 2 pseudogene 1 NME2P1 Yes No Ensembl:ENSG00000123009, GeneCard:NME2P1, HGNC:HGNC:31358, HumanCyc Gene:HS11951, ModBase:O60361, NCBI Gene:283458, RefSeq DNA:NT_009775, RefSeq RNA:NR_001577 No chr12 120720021 120720668 120282253 120282865 +PA31656 4832 HGNC:7851 ENSG00000103024 NME/NM23 nucleoside diphosphate kinase 3 NME3 DR-nm23, NDPKC, NM23-H3 Yes No Comparative Toxicogenomics Database:4832, Ensembl:ENSG00000103024, GenAtlas:NME3, GeneCard:NME3, HGNC:HGNC:7851, HumanCyc Gene:HS02442, ModBase:Q13232, NCBI Gene:4832, OMIM:601817, RefSeq DNA:NT_010393, RefSeq Protein:NP_002504, RefSeq RNA:NM_002513, UCSC Genome Browser:NM_002513, UniProtKB:Q13232 No chr16 1820321 1821743 1770320 1771750 +PA31657 4833 HGNC:7852 ENSG00000103202 NME/NM23 nucleoside diphosphate kinase 4 NME4 NDPKD, NM23H4, nm23-H4 Yes Yes Comparative Toxicogenomics Database:4833, Ensembl:ENSG00000103202, GenAtlas:NME4, GeneCard:NME4, HGNC:HGNC:7852, HumanCyc Gene:HS02473, ModBase:O00746, NCBI Gene:4833, OMIM:601818, RefSeq DNA:NT_010393, RefSeq Protein:NP_005000, RefSeq RNA:NM_005009, UCSC Genome Browser:NM_005009, UniProtKB:O00746 No chr16 446752 450754 396755 400754 +PA31658 8382 HGNC:7853 ENSG00000112981 NME/NM23 family member 5 NME5 radial spoke 23 homolog (Chlamydomonas) RSPH23, nm23-H5 Yes No Ensembl:ENSG00000112981, GenAtlas:NME5, GeneCard:NME5, HGNC:HGNC:7853, HumanCyc Gene:HS03636, ModBase:P56597, NCBI Gene:8382, OMIM:603575, RefSeq DNA:NT_034772, RefSeq Protein:NP_003542, RefSeq RNA:NM_003551, UCSC Genome Browser:NM_003551, UniProtKB:P56597 No chr5 137450861 137475132 138115172 138139443 +PA134873104 10201 HGNC:20567 ENSG00000172113 NME/NM23 nucleoside diphosphate kinase 6 NME6 IPIA-ALPHA, NM23-H6 Yes No Comparative Toxicogenomics Database:10201, Ensembl:ENSG00000172113, GeneCard:NME6, HGNC:HGNC:20567, HumanCyc Gene:HS10449, ModBase:O75414, NCBI Gene:10201, OMIM:608294, RefSeq DNA:NT_022517, RefSeq Protein:NP_005784, RefSeq RNA:NM_005793, UniProtKB:O75414 No chr3 48335485 48343719 48289369 48302259 +PA134962167 29922 HGNC:20461 ENSG00000143156 NME/NM23 family member 7 NME7 cilia and flagella associated protein 67 CFAP67, FLJ37194, NM23-H7 Yes No Comparative Toxicogenomics Database:29922, Ensembl:ENSG00000143156, GeneCard:NME7, HGNC:HGNC:20461, HumanCyc Gene:HS06995, ModBase:Q9Y5B8, NCBI Gene:29922, OMIM:613465, RefSeq DNA:NT_004487, RefSeq Protein:NP_037462, RefSeq Protein:NP_932076, RefSeq RNA:NM_013330, RefSeq RNA:NM_197972, UniProtKB:B3KSW9, UniProtKB:Q9Y5B8 No chr1 169101258 169337186 169132385 169367963 +PA134925065 51314 HGNC:16473 ENSG00000086288 NME/NM23 family member 8 NME8 sperm-specific thioredoxin 2 CILD6, DNAI8, NM23-H8, SPTRX2, TXNDC3 Yes No Comparative Toxicogenomics Database:51314, Ensembl:ENSG00000086288, GeneCard:TXNDC3, HGNC:HGNC:16473, HumanCyc Gene:HS01527, ModBase:Q8N427, NCBI Gene:51314, OMIM:607421, OMIM:610852, RefSeq DNA:NG_015893, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_057700, RefSeq RNA:NM_016616, UniProtKB:Q8N427 No chr7 37887930 37940003 37848597 37900401 +PA134909407 347736 HGNC:21343 ENSG00000181322 NME/NM23 family member 9 NME9 NM23-H9, TXL-2, TXNDC6 Yes No Ensembl:ENSG00000181322, GeneCard:TXNDC6, HGNC:HGNC:21343, ModBase:Q86XW9, NCBI Gene:347736, RefSeq DNA:NT_005612, RefSeq Protein:NP_835231, RefSeq RNA:NM_178130, UniProtKB:Q86XW9 No chr3 137980279 138049018 138261437 138331785 +PA31659 9111 HGNC:7854 ENSG00000123609 N-myc and STAT interactor NMI N-myc (and STAT) interactor Yes No Comparative Toxicogenomics Database:9111, Ensembl:ENSG00000123609, GenAtlas:NMI, GeneCard:NMI, HGNC:HGNC:7854, HumanCyc Gene:HS04678, ModBase:Q13287, NCBI Gene:9111, OMIM:603525, RefSeq DNA:NT_005403, RefSeq Protein:NP_004679, RefSeq RNA:NM_004688, UCSC Genome Browser:NM_004688, UniProtKB:Q13287, UniProtKB:Q8WTW2 No chr2 152126982 152146430 151270465 151289916 +PA31660 64802 HGNC:17877 ENSG00000173614 nicotinamide nucleotide adenylyltransferase 1 NMNAT1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 LCA9, NMNAT, PNAT1 Yes No Comparative Toxicogenomics Database:64802, Ensembl:ENSG00000173614, GeneCard:NMNAT1, HGNC:HGNC:17877, HumanCyc Gene:HS10701, ModBase:Q9HAN9, NCBI Gene:64802, OMIM:608700, RefSeq DNA:NT_021937, RefSeq Protein:NP_073624, RefSeq RNA:NM_022787, UCSC Genome Browser:NM_022787, UniProtKB:B1AN63, UniProtKB:Q9HAN9 No chr1 10003486 10045556 9942923 9996739 +PA25604 23057 HGNC:16789 ENSG00000157064 nicotinamide nucleotide adenylyltransferase 2 NMNAT2 C1orf15, KIAA0479, PNAT2 Yes No Ensembl:ENSG00000157064, GeneCard:NMNAT2, HGNC:HGNC:16789, HumanCyc Gene:HS08173, ModBase:Q9BZQ4, NCBI Gene:23057, OMIM:608701, RefSeq DNA:NT_004487, RefSeq Protein:NP_055854, RefSeq Protein:NP_733820, RefSeq RNA:NM_015039, RefSeq RNA:NM_170706, UCSC Genome Browser:NM_015039, UniProtKB:Q9BZQ4 No chr1 183217372 183387634 183248237 183418499 +PA134952303 349565 HGNC:20989 ENSG00000163864 nicotinamide nucleotide adenylyltransferase 3 NMNAT3 PNAT3 Yes No Comparative Toxicogenomics Database:349565, Ensembl:ENSG00000163864, GeneCard:NMNAT3, HGNC:HGNC:20989, ModBase:Q96T66, NCBI Gene:349565, OMIM:608702, RefSeq DNA:NT_005612, RefSeq Protein:NP_001186976, RefSeq Protein:NP_835471, RefSeq RNA:NM_001200047, RefSeq RNA:NM_178177, UniProtKB:Q96T66 No chr3 139279022 139396885 139560180 139678050 +PA145007922 57407 HGNC:24987 ENSG00000153406 NmrA like redox sensor 1 NMRAL1 """NmrA-like family domain containing 1"", ""short chain dehydrogenase/reductase family 48A, member 1""" FLJ25918, HSCARG, SDR48A1 Yes No Ensembl:ENSG00000153406, GeneCard:NMRAL1, HGNC:HGNC:24987, HumanCyc Gene:HS14470, ModBase:Q9HBL8, NCBI Gene:57407, RefSeq DNA:NT_010393, RefSeq Protein:NP_065728, RefSeq RNA:NM_020677, UniProtKB:Q9HBL8 No chr16 4511690 4524896 4461677 4476320 +PA134946592 54981 HGNC:26057 ENSG00000106733 nicotinamide riboside kinase 1 NMRK1 ribosylnicotinamide kinase C9orf95, FLJ20559, NRK1, bA235O14.2 Yes No Ensembl:ENSG00000106733, GeneCard:C9orf95, HGNC:HGNC:26057, HumanCyc Gene:HS02947, ModBase:Q9NWW6, NCBI Gene:54981, OMIM:608704, RefSeq DNA:NT_008470, RefSeq Protein:NP_001121075, RefSeq Protein:NP_060351, RefSeq RNA:NM_001127603, RefSeq RNA:NM_017881, RefSeq RNA:NR_023352, UniProtKB:Q9NWW6 No chr9 77676116 77703133 75060577 75088319 +PA134938442 27231 HGNC:17871 ENSG00000077009 nicotinamide riboside kinase 2 NMRK2 muscle-specific beta 1 integrin binding protein, nicotinamide riboside kinase 2 ITGB1BP3, MIBP, NRK2 Yes No Ensembl:ENSG00000077009, GeneCard:ITGB1BP3, HGNC:HGNC:17871, HumanCyc Gene:HS01225, ModBase:Q9NPI5, NCBI Gene:27231, OMIM:608705, RefSeq DNA:NT_011255, RefSeq Protein:NP_733778, RefSeq RNA:NM_170678, UniProtKB:Q9NPI5 No chr19 3933101 3942414 3933103 3942416 +PA142671260 129521 HGNC:32203 ENSG00000204640 neuromedin S NMS prepro-NMS Yes No Ensembl:ENSG00000204640, GeneCard:NMS, HGNC:HGNC:32203, NCBI Gene:129521, RefSeq DNA:NT_022171, RefSeq Protein:NP_001011717, RefSeq RNA:NM_001011717, UniProtKB:Q5H8A3 No chr2 101086944 101099742 100470482 100483280 +PA31661 4836 HGNC:7857 ENSG00000136448 N-myristoyltransferase 1 NMT1 """alternative, short form NMT-S"", ""long form, NMT-L"", ""myristoyl-CoA:protein N-myristoyltransferase""" NMT Yes No Comparative Toxicogenomics Database:4836, Ensembl:ENSG00000136448, GenAtlas:NMT1, GeneCard:NMT1, HGNC:HGNC:7857, HumanCyc Gene:HS06161, ModBase:P30419, NCBI Gene:4836, OMIM:160993, RefSeq DNA:NT_010783, RefSeq Protein:NP_066565, RefSeq RNA:NM_021079, UCSC Genome Browser:NM_021079, UniProtKB:P30419 No chr17 43138322 43186384 45061291 45109016 +PA31662 9397 HGNC:7858 ENSG00000152465 N-myristoyltransferase 2 NMT2 Yes No Comparative Toxicogenomics Database:9397, Ensembl:ENSG00000152465, GenAtlas:NMT2, GeneCard:NMT2, HGNC:HGNC:7858, HumanCyc Gene:HS07823, ModBase:O60551, NCBI Gene:9397, OMIM:603801, RefSeq DNA:NT_008705, RefSeq Protein:NP_004799, RefSeq RNA:NM_004808, UCSC Genome Browser:NM_004808, UniProtKB:O60551 No chr10 15147771 15210703 15104588 15168732 +PA31663 10874 HGNC:7859 ENSG00000109255 neuromedin U NMU prepro-NMU Yes No Comparative Toxicogenomics Database:10874, Ensembl:ENSG00000109255, GenAtlas:NMU, GeneCard:NMU, HGNC:HGNC:7859, HumanCyc Gene:HS03214, NCBI Gene:10874, OMIM:605103, RefSeq DNA:NT_022853, RefSeq Protein:NP_006672, RefSeq RNA:NM_006681, UCSC Genome Browser:NM_006681, UniProtKB:P48645 No chr4 56461396 56502465 55595229 55636698 +PA28910 10316 HGNC:4518 ENSG00000171596 neuromedin U receptor 1 NMUR1 FM-3, GPC-R, GPR66, NMU1R Yes No Ensembl:ENSG00000171596, GenAtlas:NMUR1, GeneCard:NMUR1, HGNC:HGNC:4518, HumanCyc Gene:HS10349, IUPHAR Receptor:298, ModBase:Q9HB89, NCBI Gene:10316, OMIM:604153, RefSeq DNA:NT_005403, RefSeq Protein:NP_006047, RefSeq RNA:NM_006056, UCSC Genome Browser:NM_006056, UniProtKB:Q9HB89 No chr2 232387871 232395182 231519903 231530471 +PA31664 56923 HGNC:16454 ENSG00000132911 neuromedin U receptor 2 NMUR2 NMU2R Yes No Comparative Toxicogenomics Database:56923, Ensembl:ENSG00000132911, GenAtlas:NMUR2, GeneCard:NMUR2, HGNC:HGNC:16454, HumanCyc Gene:HS05706, IUPHAR Receptor:299, ModBase:Q9GZQ4, NCBI Gene:56923, OMIM:605108, RefSeq DNA:NT_029289, RefSeq Protein:NP_064552, RefSeq RNA:NM_020167, UCSC Genome Browser:NM_020167, UniProtKB:Q9GZQ4 No chr5 151771102 151784840 152391541 152405279 +PA31665 4826 HGNC:7860 ENSG00000053438 neuronatin NNAT Peg5 Yes No Comparative Toxicogenomics Database:4826, Ensembl:ENSG00000053438, GenAtlas:NNAT, GeneCard:NNAT, HGNC:HGNC:7860, HumanCyc Gene:HS00658, NCBI Gene:4826, OMIM:603106, RefSeq DNA:NG_009263, RefSeq DNA:NT_011362, RefSeq Protein:NP_005377, RefSeq Protein:NP_859017, RefSeq RNA:NM_005386, RefSeq RNA:NM_181689, UCSC Genome Browser:NM_005386, UniProtKB:Q16517 No chr20 36149607 36152092 37521206 37523690 +PA251 4837 HGNC:7861 ENSG00000166741 nicotinamide N-methyltransferase NNMT Yes No Comparative Toxicogenomics Database:4837, Ensembl:ENSG00000166741, GenAtlas:NNMT, GeneCard:NNMT, HGNC:HGNC:7861, HumanCyc Gene:HS09444, ModBase:P40261, NCBI Gene:4837, OMIM:600008, RefSeq DNA:NT_033899, RefSeq Protein:NP_006160, RefSeq RNA:NM_006169, UCSC Genome Browser:NM_006169, UniProtKB:P40261, UniProtKB:Q6FH49 No chr11 114166535 114183238 114295813 114312516 +PA31667 23530 HGNC:7863 ENSG00000112992 nicotinamide nucleotide transhydrogenase NNT Yes No Comparative Toxicogenomics Database:23530, Ensembl:ENSG00000112992, GenAtlas:NNT, GeneCard:NNT, HGNC:HGNC:7863, HumanCyc Gene:HS03639, ModBase:Q13423, NCBI Gene:23530, OMIM:607878, RefSeq DNA:NT_006576, RefSeq Protein:NP_036475, RefSeq Protein:NP_892022, RefSeq RNA:NM_012343, RefSeq RNA:NM_182977, UCSC Genome Browser:NM_012343, UniProtKB:Q13423 No chr5 43602791 43705668 43602574 43705566 +PA134878853 84273 HGNC:28473 ENSG00000084092 nitric oxide associated 1 NOA1 """mitochondrial GTPase 3 homolog (S. cerevisiae)"", ""nitric oxide synthase, mitochondrial (putative)""" C4orf14, MGC3232, MTG3, hAtNOS1, hNOA1 Yes No Ensembl:ENSG00000084092, GeneCard:C4orf14, HGNC:HGNC:28473, HumanCyc Gene:HS12282, ModBase:Q8NC60, NCBI Gene:84273, RefSeq DNA:NT_022853, RefSeq Protein:NP_115689, RefSeq RNA:NM_032313, UniProtKB:Q8NC60 No chr4 57829516 57843826 56963344 56977660 +PA143485585 28987 HGNC:29540 ENSG00000141101 NIN1 (RPN12) binding protein 1 homolog NOB1 NIN1/RPN12 binding protein 1 homolog (S. cerevisiae), nin one binding protein ART-4, MST158, NOB1P, PSMD8BP1 Yes No Comparative Toxicogenomics Database:28987, Ensembl:ENSG00000141101, GeneCard:NOB1, HGNC:HGNC:29540, HumanCyc Gene:HS13862, ModBase:Q9ULX3, NCBI Gene:28987, RefSeq DNA:NT_010498, RefSeq Protein:NP_054781, RefSeq RNA:NM_014062, UniProtKB:Q9ULX3 No chr16 69775757 69788871 69741854 69754968 +PA145007938 135935 HGNC:22448 ENSG00000106410 NOBOX oogenesis homeobox NOBOX newborn ovary homeobox-encoding gene OG2, Og2x Yes No Comparative Toxicogenomics Database:135935, Ensembl:ENSG00000106410, GeneCard:NOBOX, HGNC:HGNC:22448, NCBI Gene:135935, OMIM:610934, OMIM:611548, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001073882, RefSeq RNA:NM_001080413 No chr7 144094333 144107320 144396805 144410438 +PA142671261 26155 HGNC:24517 ENSG00000188976 NOC2 like nucleolar associated transcriptional repressor NOC2L """novel INHAT repressor"", ""nucleolar complex associated 2 homolog (S. cerevisiae)"", ""protein phosphatase 1, regulatory subunit 12""" DKFZP564C186, NET15, NET7, NIR, PPP1R112 Yes No Comparative Toxicogenomics Database:26155, Ensembl:ENSG00000188976, GeneCard:NOC2L, HGNC:HGNC:24517, ModBase:Q9Y3T9, NCBI Gene:26155, OMIM:610770, RefSeq DNA:NT_004350, RefSeq Protein:NP_056473, RefSeq RNA:NM_015658, UniProtKB:Q9Y3T9 No chr1 879583 894679 944203 959299 +PA134887727 64318 HGNC:24034 ENSG00000173145 NOC3 like DNA replication regulator NOC3L factor for adipocyte differentiation 24, nucleolar complex associated 3 homolog (S. cerevisiae) AD24, C10orf117, FAD24, FLJ12820 Yes Yes Comparative Toxicogenomics Database:64318, Ensembl:ENSG00000173145, GeneCard:NOC3L, HGNC:HGNC:24034, HumanCyc Gene:HS16177, ModBase:Q8WTT2, NCBI Gene:64318, OMIM:610769, RefSeq DNA:NT_030059, RefSeq Protein:NP_071896, RefSeq RNA:NM_022451, UniProtKB:Q8WTT2 No chr10 96092989 96122715 94333226 94362976 +PA142671262 79050 HGNC:28461 ENSG00000184967 nucleolar complex associated 4 homolog NOC4L nucleolar complex associated 4 homolog (S. cerevisiae) MGC3162, NET49, Noc4, UTP19 Yes No Comparative Toxicogenomics Database:79050, Ensembl:ENSG00000184967, GeneCard:NOC4L, HGNC:HGNC:28461, ModBase:Q9BVI4, NCBI Gene:79050, OMIM:612819, RefSeq DNA:NT_009755, RefSeq Protein:NP_076983, RefSeq RNA:NM_024078, UniProtKB:Q9BVI4 No chr12 132628993 132636986 132144421 132152473 +PA26176 25819 HGNC:14254 ENSG00000151014 nocturnin NOCT CCR4 carbon catabolite repression 4-like (S. cerevisiae) CCR4, CCR4L, CCRN4L, Ccr4c, NOC Yes No Comparative Toxicogenomics Database:25819, Ensembl:ENSG00000151014, GenAtlas:CCRN4L, GeneCard:CCRN4L, HGNC:HGNC:14254, HumanCyc Gene:HS07702, ModBase:Q9UK39, NCBI Gene:25819, OMIM:608468, RefSeq DNA:NT_016354, RefSeq Protein:NP_036250, RefSeq RNA:NM_012118, UCSC Genome Browser:NM_012118, UniProtKB:Q8WTX0, UniProtKB:Q9UK39 No chr4 139936913 139967093 139015759 139045939 +PA162398098 10392 HGNC:16390 ENSG00000106100 nucleotide binding oligomerization domain containing 1 NOD1 """NLR family, CARD domain containing 1"", ""nucleotide-binding oligomerization domain containing 1"", ""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1""" CARD4, CLR7.1, NLRC1 Yes No Ensembl:ENSG00000106100, GeneCard:NOD1, HGNC:HGNC:16390, HumanCyc Gene:HS02862, ModBase:Q9Y239, NCBI Gene:10392, OMIM:605980, RefSeq DNA:NG_013025, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_006083, RefSeq RNA:NM_006092, UniProtKB:Q9Y239 No chr7 30464143 30518426 30424527 30478840 +PA26074 64127 HGNC:5331 ENSG00000167207 nucleotide binding oligomerization domain containing 2 NOD2 """NLR family, CARD domain containing 2"", ""NOD-like receptor C2"", ""nucleotide-binding oligomerization domain containing 2"", ""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2""" BLAU, CARD15, CD, CLR16.3, IBD1, NLRC2, PSORAS1 Yes Yes Comparative Toxicogenomics Database:64127, Ensembl:ENSG00000167207, GenAtlas:CARD15, GeneCard:CARD15, GeneCard:NOD2, HGNC:HGNC:5331, HumanCyc Gene:HS09526, NCBI Gene:64127, OMIM:181000, OMIM:186580, OMIM:266600, OMIM:605956, OMIM:607507, OMIM:609464, RefSeq DNA:NG_007508, RefSeq DNA:NT_010498, RefSeq Protein:NP_071445, RefSeq RNA:NM_022162, UCSC Genome Browser:NM_022162, UniProtKB:Q9HC29 No chr16 50727507 50766990 50693581 50733077 +PA31669 4838 HGNC:7865 ENSG00000156574 nodal growth differentiation factor NODAL Yes No Comparative Toxicogenomics Database:4838, Ensembl:ENSG00000156574, GenAtlas:NODAL, GeneCard:NODAL, HGNC:HGNC:7865, ModBase:Q96S42, NCBI Gene:4838, OMIM:270100, OMIM:601265, RefSeq DNA:NG_012448, RefSeq DNA:NT_030059, RefSeq Protein:NP_060525, RefSeq RNA:NM_018055, UCSC Genome Browser:NM_018055, UniProtKB:Q96S42 No chr10 72191692 72201465 70431936 70441709 +PA31670 9241 HGNC:7866 ENSG00000183691 noggin NOG SYM1, SYNS1 Yes No Comparative Toxicogenomics Database:9241, Ensembl:ENSG00000183691, GenAtlas:NOG, GeneCard:NOG, HGNC:HGNC:7866, ModBase:Q13253, NCBI Gene:9241, OMIM:184460, OMIM:185800, OMIM:186500, OMIM:186570, OMIM:602991, OMIM:611377, RefSeq DNA:NG_011958, RefSeq DNA:NT_010783, RefSeq Protein:NP_005441, RefSeq RNA:NM_005450, UCSC Genome Browser:NM_005450, UniProtKB:Q13253 No chr17 54671060 54672951 56593699 56595590 +PA142671257 79954 HGNC:25862 ENSG00000115761 nucleolar protein 10 NOL10 FLJ14075, PQBP5 Yes No Comparative Toxicogenomics Database:79954, Ensembl:ENSG00000115761, GeneCard:NOL10, HGNC:HGNC:25862, HumanCyc Gene:HS12852, ModBase:Q9BSC4, NCBI Gene:79954, RefSeq DNA:NT_005334, RefSeq Protein:NP_079170, RefSeq RNA:NM_024894, UniProtKB:Q9BSC4 No chr2 10710892 10830113 10570766 10689991 +PA142671258 25926 HGNC:24557 ENSG00000130935 nucleolar protein 11 NOL11 DKFZP586L0724 Yes No Comparative Toxicogenomics Database:25926, Ensembl:ENSG00000130935, GeneCard:NOL11, HGNC:HGNC:24557, HumanCyc Gene:HS13358, ModBase:Q9H8H0, NCBI Gene:25926, RefSeq DNA:NT_010783, RefSeq Protein:NP_056277, RefSeq RNA:NM_015462, UniProtKB:Q9H8H0 No chr17 65713949 65740319 67717833 67744208 +PA145148362 79159 HGNC:28585 ENSG00000273899 nucleolar protein 12 NOL12 MGC3731, Nop25, RRP17 Yes No Comparative Toxicogenomics Database:79159, Ensembl:ENSG00000273899, GeneCard:NOL12, HGNC:HGNC:28585, HumanCyc Gene:HS12387, ModBase:Q9UGY1, NCBI Gene:79159, RefSeq DNA:NT_011520, RefSeq Protein:NP_077289, RefSeq RNA:NM_024313, UniProtKB:Q9UGY1 No chr22 38077680 38089718 37686337 37693478 +PA31673 8996 HGNC:7869 ENSG00000140939 nucleolar protein 3 NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) ARC, CARD2, MYP, NOP30 Yes No Comparative Toxicogenomics Database:8996, Ensembl:ENSG00000140939, GenAtlas:NOL3, GeneCard:NOL3, HGNC:HGNC:7869, HumanCyc Gene:HS06775, ModBase:O60936, NCBI Gene:8996, OMIM:605235, RefSeq DNA:NT_010498, RefSeq Protein:NP_001171986, RefSeq Protein:NP_001171987, RefSeq Protein:NP_003937, RefSeq RNA:NM_001185057, RefSeq RNA:NM_001185058, RefSeq RNA:NM_003946, UCSC Genome Browser:NM_003946, UniProtKB:O60936, UniProtKB:Q5TZN6 No chr16 67204400 67209640 67170497 67175737 +PA31674 8715 HGNC:7870 ENSG00000101746 nucleolar protein 4 NOL4 cancer/testis antigen 125 CT125, HRIHFB2255, NOLP Yes No Ensembl:ENSG00000101746, GenAtlas:NOL4, GeneCard:NOL4, HGNC:HGNC:7870, HumanCyc Gene:HS02299, NCBI Gene:8715, OMIM:603577, RefSeq DNA:NT_010966, RefSeq Protein:NP_001185475, RefSeq Protein:NP_001185476, RefSeq Protein:NP_001185477, RefSeq Protein:NP_001185478, RefSeq Protein:NP_003778, RefSeq RNA:NM_001198546, RefSeq RNA:NM_001198547, RefSeq RNA:NM_001198548, RefSeq RNA:NM_001198549, RefSeq RNA:NM_003787, RefSeq RNA:NR_036752, UCSC Genome Browser:NM_003787, UniProtKB:O94818 No chr18 31431064 31803515 33851100 34224834 +PA25652 140688 HGNC:16106 ENSG00000197183 nucleolar protein 4 like NOL4L chromosome 20 open reading frame 112, hypothetical protein LOC140688, nucleolar protein 4-like C20orf112, C20orf113, DKFZP566G1424, dJ1184F4.2, dJ1184F4.4 Yes No Ensembl:ENSG00000197183, GenAtlas:C20orf112, GeneCard:C20orf112, HGNC:HGNC:16106, NCBI Gene:140688, RefSeq DNA:NT_011362, RefSeq Protein:NP_542183, RefSeq Protein:XP_003118850, RefSeq Protein:XP_003118851, RefSeq RNA:NM_080616, RefSeq RNA:XM_003118802, RefSeq RNA:XM_003118803, UCSC Genome Browser:NM_080616, UniProtKB:Q96MY1 No chr20 31030862 31172875 32443059 32585073 +PA134979388 65083 HGNC:19910 ENSG00000165271 nucleolar protein 6 NOL6 nucleolar protein 6 (RNA-associated) FLJ21959, MGC14896, MGC14921, MGC20838, Nrap, UTP22, bA311H10.1 Yes No Comparative Toxicogenomics Database:65083, Ensembl:ENSG00000165271, GeneCard:NOL6, HGNC:HGNC:19910, HumanCyc Gene:HS15306, ModBase:Q9H675, NCBI Gene:65083, OMIM:611532, RefSeq DNA:NT_008413, RefSeq Protein:NP_075068, RefSeq Protein:NP_631981, RefSeq RNA:NM_022917, RefSeq RNA:NM_139235, UniProtKB:Q9H6R4 No chr9 33461351 33473941 33460811 33473943 +PA134881915 51406 HGNC:21040 ENSG00000225921 nucleolar protein 7 NOL7 nucleolar protein 7, 27kDa C6orf90, NOP27, PQBP3, RARG-1, dJ223E5.2 Yes No Comparative Toxicogenomics Database:51406, Ensembl:ENSG00000225921, GeneCard:NOL7, HGNC:HGNC:21040, HumanCyc Gene:HS13679, ModBase:Q9UMY1, NCBI Gene:51406, OMIM:611533, RefSeq DNA:NT_007592, RefSeq Protein:NP_057251, RefSeq RNA:NM_016167, UniProtKB:Q9UMY1 No chr6 13612531 13633089 13615327 13632470 +PA134918056 55035 HGNC:23387 ENSG00000198000 nucleolar protein 8 NOL8 C9orf34, FLJ20736, Nop132 Yes No Comparative Toxicogenomics Database:55035, Ensembl:ENSG00000198000, GeneCard:NOL8, HGNC:HGNC:23387, ModBase:Q7L3E2, NCBI Gene:55035, OMIM:611534, RefSeq DNA:NT_008470, RefSeq Protein:NP_060418, RefSeq RNA:NM_017948, RefSeq RNA:NR_024020, UniProtKB:Q76FK4 No chr9 95059640 95087876 92297358 92325594 +PA142671256 79707 HGNC:26265 ENSG00000162408 nucleolar protein 9 NOL9 polynucleotide 5'-kinase FLJ23323, Grc3, NET6 Yes No Ensembl:ENSG00000162408, GeneCard:NOL9, HGNC:HGNC:26265, HumanCyc Gene:HS14914, ModBase:Q5SY16, NCBI Gene:79707, RefSeq DNA:NT_021937, RefSeq Protein:NP_078930, RefSeq RNA:NM_024654, UniProtKB:Q5SY16 No chr1 6581407 6614658 6521347 6554598 +PA31679 9221 HGNC:15608 ENSG00000166197 nucleolar and coiled-body phosphoprotein 1 NOLC1 KIAA0035, NOPP130, NOPP140, P130, Srp40 Yes No Comparative Toxicogenomics Database:9221, Ensembl:ENSG00000166197, GenAtlas:NOLC1, GeneCard:NOLC1, HGNC:HGNC:15608, HumanCyc Gene:HS09353, ModBase:Q14978, NCBI Gene:9221, OMIM:602394, RefSeq DNA:NT_030059, RefSeq Protein:NP_004732, RefSeq RNA:NM_004741, UCSC Genome Browser:NM_004741, UniProtKB:Q14978 No chr10 103911933 103923627 102152176 102163871 +PA25946 64434 HGNC:13244 ENSG00000146909 nucleolar protein with MIF4G domain 1 NOM1 protein phosphatase 1, regulatory subunit 113 C7orf3, PPP1R113, SGD1 Yes No Ensembl:ENSG00000146909, GenAtlas:NOM1, GeneCard:NOM1, HGNC:HGNC:13244, HumanCyc Gene:HS14182, ModBase:Q5C9Z4, NCBI Gene:64434, OMIM:611269, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_612409, RefSeq RNA:NM_138400, UniProtKB:Q5C9Z4 No chr7 156742417 156765876 156949723 156973182 +PA134934458 23420 HGNC:30060 ENSG00000103512 NODAL modulator 1 NOMO1 PM5 Yes No Comparative Toxicogenomics Database:23420, Ensembl:ENSG00000103512, GeneCard:NOMO1, HGNC:HGNC:30060, HumanCyc Gene:HS02476, HumanCyc Gene:HS02516, NCBI Gene:23420, OMIM:609157, RefSeq DNA:NT_010393, RefSeq Protein:NP_055102, RefSeq RNA:NM_014287, UniProtKB:Q15155 No chr16 14927643 14990014 14833786 14896157 +PA134958124 283820 HGNC:22652 ENSG00000185164 NODAL modulator 2 NOMO2 NOMO, PM5 Yes No Ensembl:ENSG00000185164, GeneCard:NOMO2, HGNC:HGNC:22652, ModBase:Q5JPE7, NCBI Gene:283820, OMIM:609158, RefSeq DNA:NT_010393, RefSeq Protein:NP_001004060, RefSeq Protein:NP_775885, RefSeq RNA:NM_001004060, RefSeq RNA:NM_173614, UniProtKB:Q4G177, UniProtKB:Q5JPE7 No chr16 18511182 18573434 18499924 18562159 +PA134950400 408050 HGNC:25242 ENSG00000103226 NODAL modulator 3 NOMO3 Yes No Ensembl:ENSG00000103226, GeneCard:NOMO3, HGNC:HGNC:25242, NCBI Gene:408050, OMIM:609159, RefSeq DNA:NT_010393, RefSeq Protein:NP_001004067, RefSeq RNA:NM_001004067, UniProtKB:P69849, UniProtKB:Q1LZN2 No chr16 16326389 16388668 16232532 16294811 +PA31680 4841 HGNC:7871 ENSG00000147140 non-POU domain containing octamer binding NONO """Nuclear RNA-binding protein, 54-kD"", ""non-POU domain containing, octamer-binding"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114""" NMT55, NRB54, P54, P54NRB, PPP1R114 Yes No Comparative Toxicogenomics Database:4841, Ensembl:ENSG00000147140, GenAtlas:NONO, GeneCard:NONO, HGNC:HGNC:7871, HumanCyc Gene:HS07400, ModBase:Q15233, NCBI Gene:4841, OMIM:300084, RefSeq DNA:NT_011669, RefSeq Protein:NP_001138880, RefSeq Protein:NP_001138881, RefSeq Protein:NP_001138882, RefSeq Protein:NP_031389, RefSeq RNA:NM_001145408, RefSeq RNA:NM_001145409, RefSeq RNA:NM_001145410, RefSeq RNA:NM_007363, UCSC Genome Browser:NM_007363, UniProtKB:B7Z4C2, UniProtKB:Q15233 No chrX 70503042 70521018 71283192 71301168 +PA164723973 55505 HGNC:14378 ENSG00000182117 NOP10 ribonucleoprotein NOP10 homolog of yeast Nop10p MGC70651, NOLA3, NOP10P Yes No Ensembl:ENSG00000182117, GeneCard:NOP10, HGNC:HGNC:14378, ModBase:Q9NPE3, NCBI Gene:55505, OMIM:224230, OMIM:606471, RefSeq DNA:NG_011562, RefSeq DNA:NT_010194, RefSeq Protein:NP_061118, RefSeq RNA:NM_018648, UniProtKB:Q9NPE3 No chr15 34633917 34635362 34341716 34343161 +PA164723982 8602 HGNC:16821 ENSG00000087269 NOP14 nucleolar protein NOP14 NOP14 homolog (S. cerevisiae) C4orf9, NOL14, RES4-25, UTP2 Yes No Comparative Toxicogenomics Database:8602, Ensembl:ENSG00000087269, GeneCard:NOP14, HGNC:HGNC:16821, HumanCyc Gene:HS12293, NCBI Gene:8602, OMIM:611526, RefSeq DNA:NT_006051, RefSeq DNA:NT_006081, RefSeq Protein:NP_003694, RefSeq RNA:NM_003703, UniProtKB:P78316 No chr4 2939663 2965233 2937936 2963506 +PA134935002 317648 HGNC:20205 ENSG00000249673 NOP14 antisense RNA 1 NOP14-AS1 RES4-24 Yes No Ensembl:ENSG00000249673, GeneCard:C4orf10, HGNC:HGNC:20205, NCBI Gene:317648, RefSeq DNA:NT_006051, RefSeq RNA:NR_015453 No chr4 2937273 2952794 2935546 2951078 +PA164724025 51491 HGNC:26934 ENSG00000048162 NOP16 nucleolar protein NOP16 HBV pre-S2 trans-regulated protein 3, hypothetical protein HSPC111 HSPC111, HSPC185, LOC51491 Yes No Ensembl:ENSG00000048162, GeneCard:NOP16, HGNC:HGNC:26934, HumanCyc Gene:HS00601, NCBI Gene:51491, OMIM:612861, RefSeq DNA:NT_023133, RefSeq Protein:NP_057475, RefSeq RNA:NM_016391, UniProtKB:Q9Y3C1 No chr5 175810940 175815763 176383937 176388927 +PA164724026 4839 HGNC:7867 ENSG00000111641 NOP2 nucleolar protein NOP2 NOP2/Sun domain family, member 1 NOL1, NOP120, NSUN1, p120 Yes No Ensembl:ENSG00000111641, GeneCard:NOP2, HGNC:HGNC:7867, HumanCyc Gene:HS03434, ModBase:P46087, NCBI Gene:4839, OMIM:164031, RefSeq DNA:NT_009759, RefSeq Protein:NP_001028886, RefSeq Protein:NP_006161, RefSeq RNA:NM_001033714, RefSeq RNA:NM_006170, UniProtKB:P46087 No chr12 6666036 6677498 6556870 6568332 +PA28736 29997 HGNC:4333 ENSG00000105373 NOP53 ribosome biogenesis factor NOP53 glioma tumor suppressor candidate region gene 2 GLTSCR2, PICT-1, PICT1 Yes No Comparative Toxicogenomics Database:29997, Ensembl:ENSG00000105373, GenAtlas:GLTSCR2, GeneCard:GLTSCR2, HGNC:HGNC:4333, HumanCyc Gene:HS02724, NCBI Gene:29997, OMIM:605691, RefSeq DNA:NT_011109, RefSeq Protein:NP_056525, RefSeq RNA:NM_015710, UCSC Genome Browser:NM_015710, UniProtKB:Q9NZM5 No chr19 48248793 48260323 47745536 47757066 +PA164724063 10528 HGNC:15911 ENSG00000101361 NOP56 ribonucleoprotein NOP56 spinocerebellar ataxia 36 NOL5A, SCA36 Yes No Ensembl:ENSG00000101361, GeneCard:NOP56, HGNC:HGNC:15911, HumanCyc Gene:HS02253, NCBI Gene:10528, RefSeq DNA:NT_011387, RefSeq Protein:NP_006383, RefSeq RNA:NM_006392, RefSeq RNA:NR_027700, UniProtKB:O00567 No chr20 2633178 2639039 2652532 2658393 +PA134891852 646192 HGNC:13962 ENSG00000235559 NOP56 ribonucleoprotein pseudogene 1 NOP56P1 NOP56-L, dJ207F6.1 Yes No Ensembl:ENSG00000235559, HGNC:HGNC:13962, NCBI Gene:646192, RefSeq DNA:NG_006572, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_113892 No chr6 28751410 28751781 28783633 28784004 +PA164724092 51602 HGNC:29926 ENSG00000055044 NOP58 ribonucleoprotein NOP58 HSPC120, NOP5 Yes No Ensembl:ENSG00000055044, GeneCard:NOP58, HGNC:HGNC:29926, HumanCyc Gene:HS00679, NCBI Gene:51602, RefSeq DNA:NT_005403, RefSeq Protein:NP_057018, RefSeq RNA:NM_015934, UniProtKB:Q9Y2X3 No chr2 203130515 203168384 202265716 202303661 +PA134867241 161424 HGNC:19826 ENSG00000196943 NOP9 nucleolar protein NOP9 C14orf21 Yes No Ensembl:ENSG00000196943, GeneCard:C14orf21, HGNC:HGNC:19826, ModBase:Q86U38, NCBI Gene:161424, RefSeq DNA:NT_026437, RefSeq Protein:NP_777573, RefSeq RNA:NM_174913, UniProtKB:Q86U38 No chr14 24769075 24777379 24299854 24309126 +PA166351982 121053 HGNC:28628 NOP protein chaperone 1 NOPCHAP1 DNA damage-sensitive RNA 1 C12orf45, DDSR1, MGC40397 Yes No HGNC:HGNC:28628, NCBI Gene:121053 No 0 0 0 0 +PA252 4842 HGNC:7872 ENSG00000089250 nitric oxide synthase 1 NOS1 nitric oxide synthase 1 (neuronal) NOS, nNOS Yes Yes Comparative Toxicogenomics Database:4842, Ensembl:ENSG00000089250, GenAtlas:NOS1, GeneCard:NOS1, HGNC:HGNC:7872, HumanCyc Gene:HS01647, ModBase:P29475, NCBI Gene:4842, OMIM:163731, OMIM:179010, RefSeq DNA:NG_011991, RefSeq DNA:NT_009775, RefSeq Protein:NP_000611, RefSeq Protein:NP_001191142, RefSeq Protein:NP_001191143, RefSeq Protein:NP_001191147, RefSeq RNA:NM_000620, RefSeq RNA:NM_001204213, RefSeq RNA:NM_001204214, RefSeq RNA:NM_001204218, UCSC Genome Browser:NM_000620, UniProtKB:A0PJJ7, UniProtKB:B3VK56, UniProtKB:P29475 No chr12 117645921 117799607 117208142 117441843 +PA142671259 9722 HGNC:16859 ENSG00000198929 nitric oxide synthase 1 adaptor protein NOS1AP C-terminal PDZ domain ligand of neuronal nitric oxide synthase, nitric oxide synthase 1 (neuronal) adaptor protein CAPON, KIAA0464 Yes Yes Comparative Toxicogenomics Database:9722, Ensembl:ENSG00000198929, GeneCard:NOS1AP, HGNC:HGNC:16859, HumanCyc Gene:HS14739, ModBase:O75052, NCBI Gene:9722, OMIM:605551, OMIM:610141, RefSeq DNA:NG_015979, RefSeq DNA:NT_004487, RefSeq Protein:NP_001119532, RefSeq Protein:NP_001158229, RefSeq Protein:NP_055512, RefSeq RNA:NM_001126060, RefSeq RNA:NM_001164757, RefSeq RNA:NM_014697, UniProtKB:B7ZLF5, UniProtKB:O75052 No chr1 162039581 162339813 162069791 162370023 +PA164724093 4843 HGNC:7873 ENSG00000007171 nitric oxide synthase 2 NOS2 nitric oxide synthase 2, inducible HEP-NOS, NOS, NOS2A, iNOS Yes Yes Ensembl:ENSG00000007171, GeneCard:NOS2, HGNC:HGNC:7873, HumanCyc Gene:HS00205, ModBase:P35228, NCBI Gene:4843, OMIM:145500, OMIM:163730, OMIM:248310, OMIM:611162, RefSeq DNA:NG_011470, RefSeq DNA:NT_010799, RefSeq Protein:NP_000616, RefSeq RNA:NM_000625, UniProtKB:P35228 No chr17 26083792 26127555 27756766 27804339 +PA31681 201288 ENSG00000167494 nitric oxide synthase 2B NOS2B Yes No Ensembl:ENSG00000167494, GenAtlas:NOS2B, GeneCard:NOS2B, NCBI Gene:201288, OMIM:600719, UniProtKB:P81272 No chr17 18400404 18406599 18497090 18503285 +PA31682 645740 ENSG00000168937 nitric oxide synthase 2C NOS2C Yes No Ensembl:ENSG00000168937, GenAtlas:NOS2C, GeneCard:NOS2C, NCBI Gene:645740, OMIM:600720, UniProtKB:Q14961 No chr17 25978467 25991679 27651441 27664653 +PA254 4846 HGNC:7876 ENSG00000164867 nitric oxide synthase 3 NOS3 endothelial nitric oxide synthase, nitric oxide synthase 3 (endothelial cell) ECNOS, eNOS Yes Yes Comparative Toxicogenomics Database:4846, Ensembl:ENSG00000164867, GenAtlas:NOS3, GeneCard:NOS3, HGNC:HGNC:7876, HumanCyc Gene:HS09149, ModBase:P29474, NCBI Gene:4846, OMIM:104300, OMIM:145500, OMIM:163729, OMIM:189800, OMIM:601367, RefSeq DNA:NG_011992, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_000594, RefSeq Protein:NP_001153581, RefSeq Protein:NP_001153582, RefSeq Protein:NP_001153583, RefSeq RNA:NM_000603, RefSeq RNA:NM_001160109, RefSeq RNA:NM_001160110, RefSeq RNA:NM_001160111, UCSC Genome Browser:NM_000603, UniProtKB:A0S0A6, UniProtKB:A0S0A7, UniProtKB:A0S0A8, UniProtKB:P29474 No chr7 150688144 150711687 150991056 151014599 +PA134989259 51070 HGNC:17946 ENSG00000142546 nitric oxide synthase interacting protein NOSIP CGI-25 Yes No Comparative Toxicogenomics Database:51070, Ensembl:ENSG00000142546, GeneCard:NOSIP, HGNC:HGNC:17946, HumanCyc Gene:HS13929, ModBase:Q9Y314, NCBI Gene:51070, RefSeq DNA:NT_011109, RefSeq Protein:NP_057037, RefSeq RNA:NM_015953, UniProtKB:Q9Y314 No chr19 50058725 50083845 49555468 49580599 +PA134992787 115677 HGNC:20203 ENSG00000163072 nitric oxide synthase trafficking NOSTRIN nitric oxide synthase trafficker MGC20702 Yes No Ensembl:ENSG00000163072, GeneCard:NOSTRIN, HGNC:HGNC:20203, HumanCyc Gene:HS15016, ModBase:Q8IVI9, NCBI Gene:115677, OMIM:607496, RefSeq DNA:NT_005403, RefSeq Protein:NP_001034813, RefSeq Protein:NP_001165102, RefSeq Protein:NP_001165103, RefSeq Protein:NP_443178, RefSeq RNA:NM_001039724, RefSeq RNA:NM_001171631, RefSeq RNA:NM_001171632, RefSeq RNA:NM_052946, UniProtKB:B3KSF5, UniProtKB:Q8IVI9 No chr2 169643049 169721849 168786539 168865339 +PA31683 4851 HGNC:7881 ENSG00000148400 notch receptor 1 NOTCH1 notch 1 TAN1 Yes No Comparative Toxicogenomics Database:4851, Ensembl:ENSG00000148400, GenAtlas:NOTCH1, GeneCard:NOTCH1, HGNC:HGNC:7881, HumanCyc Gene:HS07525, ModBase:P46531, NCBI Gene:4851, OMIM:109730, OMIM:190198, RefSeq DNA:NG_007458, RefSeq DNA:NT_024000, RefSeq Protein:NP_060087, RefSeq RNA:NM_017617, UCSC Genome Browser:NM_017617, UniProtKB:P46531 No chr9 139388896 139440238 136494433 136545786 +PA31684 4853 HGNC:7882 ENSG00000134250 notch receptor 2 NOTCH2 notch 2 Yes No Comparative Toxicogenomics Database:4853, Ensembl:ENSG00000134250, GenAtlas:NOTCH2, GeneCard:NOTCH2, HGNC:HGNC:7882, HumanCyc Gene:HS05842, ModBase:Q04721, NCBI Gene:4853, OMIM:600275, OMIM:610205, RefSeq DNA:NG_008163, RefSeq DNA:NT_032977, RefSeq Protein:NP_001186930, RefSeq Protein:NP_077719, RefSeq RNA:NM_001200001, RefSeq RNA:NM_024408, UCSC Genome Browser:NM_024408, UniProtKB:Q04721 No chr1 120454176 120639880 119911553 120073449 +PA134983899 388677 HGNC:31862 ENSG00000264343 notch 2 N-terminal like A NOTCH2NLA notch 2 N-terminal like N2N, NOTCH2NL Yes No Ensembl:ENSG00000264343, GeneCard:NOTCH2NL, HGNC:HGNC:31862, ModBase:Q7Z3S9, NCBI Gene:388677, RefSeq DNA:NT_167185, RefSeq Protein:NP_982283, RefSeq RNA:NM_203458, UniProtKB:Q7Z3S9 No chr1 145176379 145286270 146151908 146229032 +PA166181582 100996763 HGNC:53923 ENSG00000286019 notch 2 N-terminal like B NOTCH2NLB Yes No Ensembl:ENSG00000286019, HGNC:HGNC:53923, NCBI Gene:100996763 No 0 0 0 0 +PA166181583 100996717 HGNC:53924 ENSG00000286219 notch 2 N-terminal like C NOTCH2NLC Yes No Ensembl:ENSG00000286219, HGNC:HGNC:53924, NCBI Gene:100996717 No 0 0 0 0 +PA166351983 101929796 HGNC:53925 notch 2 N-terminal like R NOTCH2NLR Yes No HGNC:HGNC:53925, NCBI Gene:101929796 No 0 0 0 0 +PA31685 4854 HGNC:7883 ENSG00000074181 notch receptor 3 NOTCH3 notch 3 CADASIL, CASIL Yes No Comparative Toxicogenomics Database:4854, Ensembl:ENSG00000074181, GenAtlas:NOTCH3, GeneCard:NOTCH3, HGNC:HGNC:7883, HumanCyc Gene:HS01129, ModBase:Q9UM47, NCBI Gene:4854, OMIM:125310, OMIM:600276, RefSeq DNA:NG_009819, RefSeq DNA:NT_011295, RefSeq Protein:NP_000426, RefSeq RNA:NM_000435, UCSC Genome Browser:NM_000435, UniProtKB:Q9UM47 No chr19 15270444 15311792 15159633 15200981 +PA31686 4855 HGNC:7884 ENSG00000204301, ENSG00000234876 notch receptor 4 NOTCH4 notch 4 INT3 Yes Yes Comparative Toxicogenomics Database:4855, Ensembl:ENSG00000204301, Ensembl:ENSG00000234876, GenAtlas:NOTCH4, GeneCard:NOTCH4, HGNC:HGNC:7884, ModBase:Q99466, NCBI Gene:4855, OMIM:164951, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_004548, RefSeq RNA:NM_004557, UCSC Genome Browser:NM_004557, UniProtKB:Q99466 No chr6 32162620 32191844 32194843 32224067 +PA134895171 344022 HGNC:31839 ENSG00000214513 notochord homeobox NOTO Yes No Ensembl:ENSG00000214513, GeneCard:NOTO, HGNC:HGNC:31839, NCBI Gene:344022, RefSeq DNA:NT_022184, RefSeq Protein:NP_001127934, RefSeq RNA:NM_001134462, UniProtKB:A8MTQ0 No chr2 73429386 73438340 73202258 73211212 +PA142671250 147111 HGNC:27106 ENSG00000185269 notum, palmitoleoyl-protein carboxylesterase NOTUM [Wnt protein] O-palmitoleoyl-L-serine hydrolase, notum pectinacetylesterase homolog (Drosophila) Yes No Comparative Toxicogenomics Database:147111, Ensembl:ENSG00000185269, GeneCard:NOTUM, HGNC:HGNC:27106, NCBI Gene:147111, OMIM:609847, RefSeq DNA:NT_010663, RefSeq Protein:NP_848588, RefSeq RNA:NM_178493, UniProtKB:Q6P988 No chr17 79910383 79919057 81952507 81961181 +PA31688 4857 HGNC:7886 ENSG00000139910 NOVA alternative splicing regulator 1 NOVA1 neuro-oncological ventral antigen 1 NOVA-1 Yes No Comparative Toxicogenomics Database:4857, Ensembl:ENSG00000139910, GenAtlas:NOVA1, GeneCard:NOVA1, HGNC:HGNC:7886, HumanCyc Gene:HS06667, ModBase:P51513, NCBI Gene:4857, OMIM:602157, RefSeq DNA:NT_026437, RefSeq Protein:NP_002506, RefSeq Protein:NP_006480, RefSeq Protein:NP_006482, RefSeq RNA:NM_002515, RefSeq RNA:NM_006489, RefSeq RNA:NM_006491, UCSC Genome Browser:NM_002515, UniProtKB:P51513 No chr14 26915089 27067239 26445883 26597754 +PA31689 4858 HGNC:7887 ENSG00000104967 NOVA alternative splicing regulator 2 NOVA2 astrocytic NOVA1-like, neuro-oncological ventral antigen 2, neuro-oncological ventral antigen 3 ANOVA, NOVA-2, NOVA3 Yes No Ensembl:ENSG00000104967, GenAtlas:NOVA2, GeneCard:NOVA2, HGNC:HGNC:7887, HumanCyc Gene:HS02664, ModBase:Q9UNW9, NCBI Gene:4858, OMIM:601991, RefSeq DNA:NT_011109, RefSeq Protein:NP_002507, RefSeq RNA:NM_002516, UCSC Genome Browser:NM_002516, UniProtKB:Q9UNW9 No chr19 46442771 46476657 45933734 45973399 +PA31690 27035 HGNC:7889 ENSG00000007952 NADPH oxidase 1 NOX1 NADPH oxidase 1 variant NOH-1L, NADPH oxidase homolog-1, mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating) GP91-2, MOX1, NOH-1, NOH-1L, NOH1 Yes No Comparative Toxicogenomics Database:27035, Ensembl:ENSG00000007952, GenAtlas:NOX1, GeneCard:NOX1, HGNC:HGNC:7889, HumanCyc Gene:HS00225, ModBase:Q9Y5S8, NCBI Gene:27035, OMIM:300225, RefSeq DNA:NG_012567, RefSeq DNA:NT_011651, RefSeq Protein:NP_008983, RefSeq Protein:NP_039249, RefSeq RNA:NM_007052, RefSeq RNA:NM_013955, UCSC Genome Browser:NM_007052, UniProtKB:Q9Y5S8 No chrX 100098313 100129334 100843324 100874345 +PA31691 50508 HGNC:7890 ENSG00000074771 NADPH oxidase 3 NOX3 GP91-3 Yes Yes Comparative Toxicogenomics Database:50508, Ensembl:ENSG00000074771, GenAtlas:NOX3, GeneCard:NOX3, HGNC:HGNC:7890, HumanCyc Gene:HS01151, ModBase:Q9HBY0, NCBI Gene:50508, OMIM:607105, RefSeq DNA:NG_011995, RefSeq DNA:NT_025741, RefSeq Protein:NP_056533, RefSeq RNA:NM_015718, UCSC Genome Browser:NM_015718, UniProtKB:Q9HBY0 No chr6 155716502 155777037 155395368 155455903 +PA31692 50507 HGNC:7891 ENSG00000086991 NADPH oxidase 4 NOX4 KOX, KOX-1 Yes No Comparative Toxicogenomics Database:50507, Ensembl:ENSG00000086991, GenAtlas:NOX4, GeneCard:NOX4, HGNC:HGNC:7891, HumanCyc Gene:HS01546, ModBase:Q9NPH5, NCBI Gene:50507, OMIM:605261, RefSeq DNA:NT_167190, RefSeq Protein:NP_001137308, RefSeq Protein:NP_001137309, RefSeq Protein:NP_058627, RefSeq RNA:NM_001143836, RefSeq RNA:NM_001143837, RefSeq RNA:NM_016931, RefSeq RNA:NR_026571, UCSC Genome Browser:NM_016931, UniProtKB:B3KQ17, UniProtKB:B7Z520, UniProtKB:Q9NPH5 No chr11 89057521 89322779 89324353 89589611 +PA31693 79400 HGNC:14874 ENSG00000255346 NADPH oxidase 5 NOX5 NADPH oxidase, EF-hand calcium binding domain 5 NOX5A, NOX5B Yes No Comparative Toxicogenomics Database:79400, Ensembl:ENSG00000255346, GenAtlas:NOX5, GeneCard:NOX5, HGNC:HGNC:14874, HumanCyc Gene:HS06400, ModBase:Q96PH1, NCBI Gene:79400, OMIM:606572, RefSeq DNA:NT_010194, RefSeq Protein:NP_001171708, RefSeq Protein:NP_001171709, RefSeq Protein:NP_078781, RefSeq RNA:NM_001184779, RefSeq RNA:NM_001184780, RefSeq RNA:NM_024505, RefSeq RNA:NR_033671, RefSeq RNA:NR_033672, UCSC Genome Browser:NM_024505, UniProtKB:Q96PH1 No chr15 69222839 69349501 68930500 69057161 +PA35598 10811 HGNC:10668 ENSG00000188747 NADPH oxidase activator 1 NOXA1 FLJ25475, NY-CO-31, SDCCAG31 Yes No Ensembl:ENSG00000188747, GeneCard:NOXA1, HGNC:HGNC:10668, ModBase:Q86UR1, NCBI Gene:10811, OMIM:611255, RefSeq DNA:NT_024000, RefSeq Protein:NP_006638, RefSeq RNA:NM_006647, UniProtKB:Q86UR1 No chr9 140317847 140328858 137423372 137434406 +PA134896072 124056 HGNC:19404 ENSG00000196408 NADPH oxidase organizer 1 NOXO1 P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28 Yes No Comparative Toxicogenomics Database:124056, Ensembl:ENSG00000196408, GeneCard:NOXO1, HGNC:HGNC:19404, ModBase:Q8NFA2, NCBI Gene:124056, OMIM:611256, RefSeq DNA:NT_010393, RefSeq Protein:NP_653204, RefSeq Protein:NP_751907, RefSeq Protein:NP_751908, RefSeq RNA:NM_144603, RefSeq RNA:NM_172167, RefSeq RNA:NM_172168, UniProtKB:Q8NFA2 No chr16 2028918 2031704 1978917 1982751 +PA134935429 122945 HGNC:20487 ENSG00000165555 NADP dependent oxidoreductase domain containing 1 NOXRED1 NADP-dependent oxidoreductase domain containing 1 C14orf148, FLJ32809 Yes No Ensembl:ENSG00000165555, GeneCard:C14orf148, HGNC:HGNC:20487, HumanCyc Gene:HS09248, NCBI Gene:122945, RefSeq DNA:NT_026437, RefSeq Protein:NP_001106946, RefSeq Protein:NP_620146, RefSeq RNA:NM_001113475, RefSeq RNA:NM_138791, UniProtKB:Q6NXP6 No chr14 77859827 77890225 77394021 77426013 +PA25519 23742 HGNC:1190 ENSG00000185823 nuclear pore associated protein 1 NPAP1 C15orf2 Yes No Ensembl:ENSG00000185823, GenAtlas:C15orf2, GeneCard:C15orf2, HGNC:HGNC:1190, ModBase:Q9NZP6, NCBI Gene:23742, OMIM:610922, RefSeq DNA:NG_021413, RefSeq DNA:NT_026446, RefSeq Protein:NP_061831, RefSeq RNA:NM_018958, UCSC Genome Browser:NM_018958, UniProtKB:Q9NZP6 No chr15 24920541 24928593 24675394 24683446 +PA166181584 729159 HGNC:53980 ENSG00000278499 nuclear pore associated protein 1 like NPAP1L Yes No Ensembl:ENSG00000278499, HGNC:HGNC:53980, NCBI Gene:729159 No 0 0 0 0 +PA31695 4861 HGNC:7894 ENSG00000130751 neuronal PAS domain protein 1 NPAS1 member of PAS superfamily 5, neuronal PAS1 MOP5, PASD5, bHLHe11 Yes No Comparative Toxicogenomics Database:4861, Ensembl:ENSG00000130751, GenAtlas:NPAS1, GeneCard:NPAS1, HGNC:HGNC:7894, HumanCyc Gene:HS05436, ModBase:Q99742, NCBI Gene:4861, OMIM:603346, RefSeq DNA:NT_011109, RefSeq Protein:NP_002508, RefSeq RNA:NM_002517, UCSC Genome Browser:NM_002517, UniProtKB:Q99742 No chr19 47523077 47549033 47019820 47045775 +PA31696 4862 HGNC:7895 ENSG00000170485 neuronal PAS domain protein 2 NPAS2 MOP4, PASD4, bHLHe9 Yes No Comparative Toxicogenomics Database:4862, Ensembl:ENSG00000170485, GenAtlas:NPAS2, GeneCard:NPAS2, HGNC:HGNC:7895, HumanCyc Gene:HS00759, ModBase:Q99743, NCBI Gene:4862, OMIM:603347, RefSeq DNA:NG_023259, RefSeq DNA:NT_022171, RefSeq Protein:NP_002509, RefSeq RNA:NM_002518, UCSC Genome Browser:NM_002518, UniProtKB:A2I2P5, UniProtKB:Q99743 No chr2 101436613 101613289 100820151 100996829 +PA134968746 64067 HGNC:19311 ENSG00000151322 neuronal PAS domain protein 3 NPAS3 MOP6, PASD6, bHLHe12 Yes Yes Ensembl:ENSG00000151322, GeneCard:NPAS3, HGNC:HGNC:19311, HumanCyc Gene:HS07724, ModBase:Q8IXF0, NCBI Gene:64067, OMIM:609430, RefSeq DNA:NG_013036, RefSeq DNA:NT_026437, RefSeq Protein:NP_001158221, RefSeq Protein:NP_001159365, RefSeq Protein:NP_071406, RefSeq Protein:NP_775182, RefSeq RNA:NM_001164749, RefSeq RNA:NM_001165893, RefSeq RNA:NM_022123, RefSeq RNA:NM_173159, UniProtKB:Q8IXF0 No chr14 33404115 34273382 32934785 33804176 +PA142671254 266743 HGNC:18983 ENSG00000174576 neuronal PAS domain protein 4 NPAS4 Le-PAS, NXF, PASD10, bHLHe79 Yes No Ensembl:ENSG00000174576, GeneCard:NPAS4, HGNC:HGNC:18983, ModBase:Q8IUM7, NCBI Gene:266743, OMIM:608554, RefSeq DNA:NT_167190, RefSeq Protein:NP_849195, RefSeq RNA:NM_178864, UniProtKB:Q8IUM7 No chr11 66188475 66194177 66409158 66426707 +PA31697 4863 HGNC:7896 ENSG00000149308 nuclear protein, coactivator of histone transcription NPAT nuclear protein, ataxia-telangiectasia locus E14, p220 Yes No Comparative Toxicogenomics Database:4863, Ensembl:ENSG00000149308, GenAtlas:NPAT, GeneCard:NPAT, HGNC:HGNC:7896, HumanCyc Gene:HS14277, NCBI Gene:4863, OMIM:601448, RefSeq DNA:NT_033899, RefSeq Protein:NP_002510, RefSeq RNA:NM_002519, UCSC Genome Browser:NM_002519, UniProtKB:Q14207 No chr11 108028117 108093365 108155280 108222638 +PA142671255 256933 HGNC:30099 ENSG00000183979 neuropeptide B NPB prepro-NPB PPL7, PPNPB Yes No Ensembl:ENSG00000183979, GeneCard:NPB, HGNC:HGNC:30099, NCBI Gene:256933, OMIM:607996, RefSeq DNA:NT_010663, RefSeq Protein:NP_683694, RefSeq RNA:NM_148896, UniProtKB:Q8NG41 No chr17 79860072 79860781 81902109 81902905 +PA28912 2831 HGNC:4522 ENSG00000288611 neuropeptides B and W receptor 1 NPBWR1 neuropeptides B/W receptor 1 GPR7 Yes No Ensembl:ENSG00000288611, GenAtlas:NPBWR1, GeneCard:NPBWR1, HGNC:HGNC:4522, IUPHAR Receptor:303, ModBase:P48145, NCBI Gene:2831, OMIM:600730, RefSeq DNA:NT_008183, RefSeq Protein:NP_005276, RefSeq RNA:NM_005285, UCSC Genome Browser:NM_005285, UniProtKB:P48145 No chr8 53852468 53853454 52939908 52940894 +PA28923 2832 HGNC:4530 ENSG00000125522 neuropeptides B and W receptor 2 NPBWR2 neuropeptides B/W receptor 2 GPR8 Yes No Comparative Toxicogenomics Database:2832, Ensembl:ENSG00000125522, GenAtlas:NPBWR2, GeneCard:NPBWR2, HGNC:HGNC:4530, HumanCyc Gene:HS04901, IUPHAR Receptor:304, ModBase:P48146, NCBI Gene:2832, OMIM:600731, RefSeq DNA:NT_011333, RefSeq Protein:NP_005277, RefSeq RNA:NM_005286, UCSC Genome Browser:NM_005286, UniProtKB:P48146 No chr20 62737183 62738184 64105830 64106831 +PA31698 4864 HGNC:7897 ENSG00000141458 NPC intracellular cholesterol transporter 1 NPC1 Niemann-Pick disease, type C1 SLC65A1 Yes No Comparative Toxicogenomics Database:4864, Ensembl:ENSG00000141458, GenAtlas:NPC1, GeneCard:NPC1, HGNC:HGNC:7897, HumanCyc Gene:HS06833, ModBase:O15118, NCBI Gene:4864, OMIM:257220, OMIM:607623, RefSeq DNA:NG_012795, RefSeq DNA:NT_010966, RefSeq Protein:NP_000262, RefSeq RNA:NM_000271, UCSC Genome Browser:NM_000271, UniProtKB:O15118 No chr18 21086148 21166581 23506184 23586617 +PA31699 29881 HGNC:7898 ENSG00000015520 NPC1 like intracellular cholesterol transporter 1 NPC1L1 NPC1-like 1 SLC65A2 Yes Yes Comparative Toxicogenomics Database:29881, Ensembl:ENSG00000015520, GenAtlas:NPC1L1, GeneCard:NPC1L1, HGNC:HGNC:7898, HumanCyc Gene:HS00370, ModBase:Q9UHC9, NCBI Gene:29881, OMIM:608010, RefSeq DNA:NG_013088, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001095118, RefSeq Protein:NP_037521, RefSeq RNA:NM_001101648, RefSeq RNA:NM_013389, UCSC Genome Browser:NM_013389, UniProtKB:A8MSP5, UniProtKB:Q17RV5, UniProtKB:Q9UHC9 No chr7 44552134 44580914 44512440 44541650 +PA31700 10577 HGNC:14537 ENSG00000119655 NPC intracellular cholesterol transporter 2 NPC2 """Niemann-Pick disease, type C2"", ""epididymal protein 1""" EDDM1, HE1, NP-C2 Yes Yes Comparative Toxicogenomics Database:10577, Ensembl:ENSG00000119655, GenAtlas:NPC2, GeneCard:NPC2, HGNC:HGNC:14537, HumanCyc Gene:HS04316, ModBase:P61916, NCBI Gene:10577, OMIM:601015, OMIM:607625, RefSeq DNA:NG_007117, RefSeq DNA:NT_026437, RefSeq Protein:NP_006423, RefSeq RNA:NM_006432, UCSC Genome Browser:NM_006432, UniProtKB:P61916 No chr14 74942900 74960084 74479940 74493475 +PA31701 56654 HGNC:7899 ENSG00000107281 neural proliferation, differentiation and control 1 NPDC1 neural proliferation, differentiation and control, 1 CAB-, CAB1, DKFZp586J0523 Yes No Comparative Toxicogenomics Database:56654, Ensembl:ENSG00000107281, GenAtlas:NPDC1, GeneCard:NPDC1, HGNC:HGNC:7899, HumanCyc Gene:HS02985, NCBI Gene:56654, OMIM:605798, RefSeq DNA:NT_024000, RefSeq Protein:NP_056207, RefSeq RNA:NM_015392, UCSC Genome Browser:NM_015392, UniProtKB:Q9NQX5 No chr9 139933909 139941147 137039457 137046224 +PA31702 79716 HGNC:16244 ENSG00000215440 aminopeptidase like 1 NPEPL1 aminopeptidase-like 1 FLJ11583, bA261P9.2 Yes No Ensembl:ENSG00000215440, GenAtlas:NPEPL1, GeneCard:NPEPL1, HGNC:HGNC:16244, ModBase:Q8NDH3, NCBI Gene:79716, RefSeq DNA:NT_011362, RefSeq Protein:NP_001191801, RefSeq Protein:NP_001191802, RefSeq Protein:NP_078939, RefSeq RNA:NM_001204872, RefSeq RNA:NM_001204873, RefSeq RNA:NM_024663, UCSC Genome Browser:NM_024663, UniProtKB:Q8NDH3 No chr20 57264187 57290900 58689131 58715844 +PA31703 9520 HGNC:7900 ENSG00000141279 aminopeptidase puromycin sensitive NPEPPS metalloproteinase MP100, puromycin-sensitive aminopeptidase MP100, PSA Yes No Comparative Toxicogenomics Database:9520, Ensembl:ENSG00000141279, GenAtlas:NPEPPS, GeneCard:NPEPPS, HGNC:HGNC:7900, HumanCyc Gene:HS06810, ModBase:P55786, NCBI Gene:9520, OMIM:606793, RefSeq DNA:NT_010783, RefSeq Protein:NP_006301, RefSeq RNA:NM_006310, UCSC Genome Browser:NM_006310, UniProtKB:P55786 No chr17 45600316 45700642 47522950 47623276 +PA31704 8620 HGNC:7901 ENSG00000139574 neuropeptide FF-amide peptide precursor NPFF FMRFAL Yes No Comparative Toxicogenomics Database:8620, Ensembl:ENSG00000139574, GenAtlas:NPFF, GeneCard:NPFF, HGNC:HGNC:7901, HumanCyc Gene:HS06633, NCBI Gene:8620, OMIM:604643, RefSeq DNA:NT_029419, RefSeq Protein:NP_003708, RefSeq RNA:NM_003717, UCSC Genome Browser:NM_003717, UniProtKB:O15130 No chr12 53900472 53901422 53506688 53507638 +PA134934991 64106 HGNC:17425 ENSG00000148734 neuropeptide FF receptor 1 NPFFR1 neuropeptide FF 1 GPR147, NPFF1R1, OT7T022 Yes No Ensembl:ENSG00000148734, GeneCard:NPFFR1, HGNC:HGNC:17425, HumanCyc Gene:HS07556, IUPHAR Receptor:300, ModBase:Q9GZQ6, NCBI Gene:64106, OMIM:607448, RefSeq DNA:NT_030059, RefSeq Protein:NP_071429, RefSeq RNA:NM_022146, UniProtKB:Q9GZQ6 No chr10 72014713 72043450 70254957 70283694 +PA28918 10886 HGNC:4525 ENSG00000056291 neuropeptide FF receptor 2 NPFFR2 neuropeptide FF 2 GPR74, NPFF2, NPGPR Yes No Ensembl:ENSG00000056291, GenAtlas:NPFFR2, GeneCard:NPFFR2, HGNC:HGNC:4525, HumanCyc Gene:HS00693, IUPHAR Receptor:301, ModBase:Q9Y5X5, NCBI Gene:10886, OMIM:607449, RefSeq DNA:NT_022778, RefSeq Protein:NP_001138228, RefSeq Protein:NP_004876, RefSeq Protein:NP_444264, RefSeq RNA:NM_001144756, RefSeq RNA:NM_004885, RefSeq RNA:NM_053036, UCSC Genome Browser:NM_004885, UniProtKB:A0PJM9, UniProtKB:Q9Y5X5 No chr4 72897521 73013918 72031804 72148201 +PA31706 4867 HGNC:7905 ENSG00000144061 nephrocystin 1 NPHP1 nephrocystin-1, nephronophthisis 1 (juvenile) JBTS4, NPH1, SLSN1 Yes No Comparative Toxicogenomics Database:4867, Ensembl:ENSG00000144061, GenAtlas:NPHP1, GeneCard:NPHP1, HGNC:HGNC:7905, HumanCyc Gene:HS07145, ModBase:O15259, NCBI Gene:4867, OMIM:256100, OMIM:266900, OMIM:607100, OMIM:609583, RefSeq DNA:NG_008287, RefSeq DNA:NT_022135, RefSeq Protein:NP_000263, RefSeq Protein:NP_001121650, RefSeq Protein:NP_001121651, RefSeq Protein:NP_997064, RefSeq RNA:NM_000272, RefSeq RNA:NM_001128178, RefSeq RNA:NM_001128179, RefSeq RNA:NM_207181, UCSC Genome Browser:NM_000272, UniProtKB:O15259 No chr2 110880913 110962639 110123336 110205062 +PA31708 27031 HGNC:7907 ENSG00000113971 nephrocystin 3 NPHP3 """Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"", ""nephrocystin-3"", ""nephronophthisis 3 (adolescent)""" CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, NPH3, SLSN3 Yes No Comparative Toxicogenomics Database:27031, Ensembl:ENSG00000113971, GenAtlas:NPHP3, GeneCard:NPHP3, HGNC:HGNC:7907, ModBase:Q8NCM5, NCBI Gene:27031, OMIM:208540, OMIM:604387, OMIM:608002, RefSeq DNA:NG_008130, RefSeq DNA:NT_005612, RefSeq Protein:NP_694972, RefSeq RNA:NM_153240, UCSC Genome Browser:NM_153240, UniProtKB:Q7Z494 No chr3 132399453 132441303 132680609 132722459 +PA164723683 348808 HGNC:24129 ENSG00000248724 NPHP3 antisense RNA 1 NPHP3-AS1 Yes No Ensembl:ENSG00000248724, GeneCard:NCRNA00119, HGNC:HGNC:24129, NCBI Gene:348808, RefSeq DNA:NT_005612, RefSeq RNA:NR_002811 No chr3 132441186 132593050 132722342 132874206 +PA134927048 261734 HGNC:19104 ENSG00000131697 nephrocystin 4 NPHP4 POC10 centriolar protein homolog (Chlamydomonas), nephrocystin-4, nephronophthisis 4, nephroretinin KIAA0673, POC10, SLSN4 Yes No Comparative Toxicogenomics Database:261734, Ensembl:ENSG00000131697, GeneCard:NPHP4, HGNC:HGNC:19104, HumanCyc Gene:HS13394, ModBase:O75161, NCBI Gene:261734, OMIM:606966, OMIM:606996, OMIM:607215, RefSeq DNA:NG_011724, RefSeq DNA:NT_021937, RefSeq Protein:NP_055917, RefSeq RNA:NM_015102, UniProtKB:O75161 No chr1 5922870 6052618 5862808 5992473 +PA31709 4868 HGNC:7908 ENSG00000161270 NPHS1 adhesion molecule, nephrin NPHS1 """NPHS1, nephrin"", ""nephrosis 1, congenital, Finnish type (nephrin)""" CNF, NPHN Yes Yes Comparative Toxicogenomics Database:4868, Ensembl:ENSG00000161270, GenAtlas:NPHS1, GeneCard:NPHS1, HGNC:HGNC:7908, HumanCyc Gene:HS08580, ModBase:O60500, NCBI Gene:4868, OMIM:256300, OMIM:602716, RefSeq DNA:NG_013356, RefSeq DNA:NT_011109, RefSeq Protein:NP_004637, RefSeq RNA:NM_004646, UCSC Genome Browser:NM_004646, UniProtKB:O60500 No chr19 36316274 36342895 35825372 35851993 +PA31710 7827 HGNC:13394 ENSG00000116218 NPHS2 stomatin family member, podocin NPHS2 """NPHS2, podocin"", ""nephrosis 2, idiopathic, steroid-resistant (podocin)""" PDCN, SRN1 Yes No Comparative Toxicogenomics Database:7827, Ensembl:ENSG00000116218, GenAtlas:NPHS2, GeneCard:NPHS2, HGNC:HGNC:13394, HumanCyc Gene:HS03997, ModBase:Q9NP85, NCBI Gene:7827, OMIM:600995, OMIM:604766, RefSeq DNA:NG_007535, RefSeq DNA:NT_004487, RefSeq Protein:NP_055440, RefSeq RNA:NM_014625, UCSC Genome Browser:NM_014625, UniProtKB:Q9NP85 No chr1 179519674 179545086 179550539 179575987 +PA31711 9284 HGNC:7909 ENSG00000183426 nuclear pore complex interacting protein family member A1 NPIPA1 """nuclear pore complex interacting protein"", ""nuclear pore complex interacting protein family, member A1""" NPIP, morpheus Yes No Comparative Toxicogenomics Database:9284, Ensembl:ENSG00000183426, GenAtlas:NPIP, GeneCard:NPIP, HGNC:HGNC:7909, HumanCyc Gene:HS12203, NCBI Gene:9284, OMIM:606406, RefSeq DNA:NT_010393, RefSeq Protein:NP_008916, RefSeq RNA:NM_006985, UCSC Genome Browser:NM_006985, UniProtKB:Q9UND3 No chr16 15027316 15045931 14935258 14952074 +PA166123710 642799 HGNC:41979 ENSG00000254852 nuclear pore complex interacting protein family member A2 NPIPA2 nuclear pore complex interacting protein family, member A2 Yes No Ensembl:ENSG00000254852, HGNC:HGNC:41979, NCBI Gene:642799 No chr16 +PA166123711 642778 HGNC:41978 ENSG00000224712 nuclear pore complex interacting protein family member A3 NPIPA3 nuclear pore complex interacting protein family, member A3 Yes No Ensembl:ENSG00000224712, HGNC:HGNC:41978, NCBI Gene:642778 No chr16 +PA166123712 100288332 HGNC:41980 ENSG00000183793 nuclear pore complex interacting protein family member A5 NPIPA5 nuclear pore complex interacting protein family, member A5 Yes No Ensembl:ENSG00000183793, HGNC:HGNC:41980, NCBI Gene:100288332 No chr16 +PA166351984 131675794 HGNC:27893 nuclear pore complex interacting protein family, member A6 NPIPA6 Yes No HGNC:HGNC:27893, NCBI Gene:131675794 No 0 0 0 0 +PA166123713 101059938 HGNC:41982 ENSG00000214967 nuclear pore complex interacting protein family member A7 NPIPA7 nuclear pore complex interacting protein family, member A7 Yes No Ensembl:ENSG00000214967, HGNC:HGNC:41982, NCBI Gene:101059938 No +PA166123714 101059953 HGNC:41983 ENSG00000214940 nuclear pore complex interacting protein family member A8 NPIPA8 """morpheus gene family member 9"", ""nuclear pore complex interacting protein family, member A8""" LCR16a9 Yes No Ensembl:ENSG00000214940, HGNC:HGNC:41983, NCBI Gene:101059953 No +PA166351985 105376752 HGNC:41984 nuclear pore complex interacting protein family, member A9 NPIPA9 Yes No HGNC:HGNC:41984, NCBI Gene:105376752 No 0 0 0 0 +PA166123720 728888 HGNC:37453 ENSG00000254206 nuclear pore complex interacting protein family member B11 NPIPB11 nuclear pore complex interacting protein family, member B11 Yes No Ensembl:ENSG00000254206, HGNC:HGNC:37453, NCBI Gene:728888 No +PA166351988 440353 HGNC:37491 nuclear pore complex interacting protein family member B12 NPIPB12 Yes No HGNC:HGNC:37491, NCBI Gene:440353 No 0 0 0 0 +PA166181585 613037 HGNC:41989 ENSG00000198064 nuclear pore complex interacting protein family, member B13 NPIPB13 Yes No Ensembl:ENSG00000198064, HGNC:HGNC:41989, NCBI Gene:613037 No 0 0 0 0 +PA164724166 440348 HGNC:34409 ENSG00000196436 nuclear pore complex interacting protein family member B15 NPIPB15 """nuclear pore complex interacting protein family, member B15"", ""nuclear pore complex interacting protein-like 2""" LOC440348, NPIPL2 Yes No Ensembl:ENSG00000196436, GeneCard:NPIPL2, HGNC:HGNC:34409, NCBI Gene:440348, RefSeq DNA:NT_010498, RefSeq Protein:XP_002344140, RefSeq Protein:XP_003118768, RefSeq RNA:XM_002344099, RefSeq RNA:XM_003118720 No chr16 74411790 74426013 74374986 74392115 +PA166351986 729978 HGNC:37451 nuclear pore complex interacting protein family member B2 NPIPB2 Yes No HGNC:HGNC:37451, NCBI Gene:729978 No 0 0 0 0 +PA164724182 23117 HGNC:28989 ENSG00000169246, ENSG00000243716 nuclear pore complex interacting protein family member B3 NPIPB3 """nuclear pore complex interacting protein family, member B3"", ""nuclear pore complex interacting protein-like 3""" KIAA0220, NPIPL3 Yes No Ensembl:ENSG00000169246, Ensembl:ENSG00000243716, GeneCard:NPIPL3, HGNC:HGNC:28989, NCBI Gene:23117, RefSeq DNA:NT_010393, RefSeq Protein:NP_569731, RefSeq RNA:NM_130464, UniProtKB:Q92617 No chr16 21413455 21436658 21402134 21425337 +PA166123715 440345 HGNC:41985 ENSG00000185864 nuclear pore complex interacting protein family member B4 NPIPB4 nuclear pore complex interacting protein family, member B4 Yes No Ensembl:ENSG00000185864, HGNC:HGNC:41985, NCBI Gene:440345 No +PA166123716 100132247 HGNC:37233 ENSG00000243716 nuclear pore complex interacting protein family member B5 NPIPB5 nuclear pore complex interacting protein family, member B5 Yes No Ensembl:ENSG00000243716, HGNC:HGNC:37233, NCBI Gene:100132247 No chr16 +PA166123717 728741 HGNC:37454 ENSG00000198156 nuclear pore complex interacting protein family member B6 NPIPB6 nuclear pore complex interacting protein family, member B6 Yes No Ensembl:ENSG00000198156, HGNC:HGNC:37454, NCBI Gene:728741 No +PA166351987 440350 HGNC:33832 nuclear pore complex interacting protein family member B7 NPIPB7 LOC440350, NPIPL1 Yes No HGNC:HGNC:33832, NCBI Gene:440350 No 0 0 0 0 +PA166123718 728734 HGNC:37490 ENSG00000255524 nuclear pore complex interacting protein family member B8 NPIPB8 nuclear pore complex interacting protein family, member B8 Yes No Ensembl:ENSG00000255524, HGNC:HGNC:37490, NCBI Gene:728734 No +PA166123719 100507607 HGNC:41987 ENSG00000196993 nuclear pore complex interacting protein family member B9 NPIPB9 nuclear pore complex interacting protein family, member B9 Yes No Ensembl:ENSG00000196993, HGNC:HGNC:41987, NCBI Gene:100507607 No +PA165450303 100874381 HGNC:35407 ENSG00000188599 nuclear pore complex interacting protein pseudogene 1 NPIPP1 Yes No Ensembl:ENSG00000188599, HGNC:HGNC:35407, NCBI Gene:100874381 No chr16 15198155 15217355 15104298 15123498 +PA25602 80896 HGNC:16781 ENSG00000135838 N-acetylneuraminate pyruvate lyase NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase), dihydrodipicolinate synthetase homolog 1 (E. coli) C1orf13, DHDPS1, NPL1 Yes No Comparative Toxicogenomics Database:80896, Ensembl:ENSG00000135838, GeneCard:NPL, HGNC:HGNC:16781, HumanCyc Gene:HS13595, ModBase:Q9BXD5, NCBI Gene:80896, OMIM:611412, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186979, RefSeq Protein:NP_001186980, RefSeq Protein:NP_001186981, RefSeq Protein:NP_001186985, RefSeq Protein:NP_110396, RefSeq RNA:NM_001200050, RefSeq RNA:NM_001200051, RefSeq RNA:NM_001200052, RefSeq RNA:NM_001200056, RefSeq RNA:NM_030769, UCSC Genome Browser:NM_030769, UniProtKB:Q9BXD5 No chr1 182758584 182799519 182789449 182830384 +PA143485558 55666 HGNC:18261 ENSG00000182446 NPL4 homolog, ubiquitin recognition factor NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae) FLJ20657, KIAA1499, NPL4 Yes No Ensembl:ENSG00000182446, GeneCard:NPLOC4, HGNC:HGNC:18261, ModBase:Q8TAT6, NCBI Gene:55666, OMIM:606590, RefSeq DNA:NT_010783, RefSeq Protein:NP_060391, RefSeq RNA:NM_017921, UniProtKB:Q8TAT6 No chr17 79523913 79604138 81556885 81637153 +PA31712 4869 HGNC:7910 ENSG00000181163 nucleophosmin 1 NPM1 """nucleolar phosphoprotein B23"", ""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"", ""nucleophosmin/nucleoplasmin family, member 1"", ""numatrin""" B23, NPM Yes No Comparative Toxicogenomics Database:4869, Ensembl:ENSG00000181163, GenAtlas:NPM1, GeneCard:NPM1, HGNC:HGNC:7910, HumanCyc Gene:HS11583, ModBase:Q96EA5, NCBI Gene:4869, OMIM:164040, OMIM:601626, RefSeq DNA:NG_016018, RefSeq DNA:NT_023133, RefSeq Protein:NP_001032827, RefSeq Protein:NP_002511, RefSeq Protein:NP_954654, RefSeq RNA:NM_001037738, RefSeq RNA:NM_002520, RefSeq RNA:NM_199185, UCSC Genome Browser:NM_002520, UniProtKB:P06748, UniProtKB:Q9BYG9 No chr5 170814652 170837888 171387648 171410900 +PA31713 4870 HGNC:7911 ENSG00000267652 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 1 NPM1P1 NG1-1.6 Yes No Ensembl:ENSG00000267652, GenAtlas:NPM1P1, GeneCard:NPM1P1, HGNC:HGNC:7911, NCBI Gene:4870, RefSeq DNA:NG_001162, RefSeq DNA:NT_010966 No chr18 39368871 39369360 41788907 41789396 +PA31714 10837 HGNC:7912 ENSG00000214428 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 10 NPM1P10 Yes No Ensembl:ENSG00000214428, GenAtlas:NPM1P10, GeneCard:NPM1P10, HGNC:HGNC:7912, NCBI Gene:10837, RefSeq DNA:NG_009882, RefSeq DNA:NT_025741 No chr6 104472802 104474734 104024927 104026859 +PA31715 10836 HGNC:7913 ENSG00000226827 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 11 NPM1P11 Yes No Ensembl:ENSG00000226827, GenAtlas:NPM1P11, GeneCard:NPM1P11, HGNC:HGNC:7913, NCBI Gene:10836, RefSeq DNA:NG_022930, RefSeq DNA:NT_007819 No chr7 11297002 11298267 11257375 11258640 +PA31716 10835 HGNC:7914 ENSG00000215311 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 12 NPM1P12 Yes No Ensembl:ENSG00000215311, GenAtlas:NPM1P12, GeneCard:NPM1P12, HGNC:HGNC:7914, NCBI Gene:10835, RefSeq DNA:NG_000887, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 149031005 149032261 149333914 149335170 +PA31717 10834 HGNC:7915 ENSG00000232492 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 13 NPM1P13 Yes No Ensembl:ENSG00000232492, GenAtlas:NPM1P13, GeneCard:NPM1P13, HGNC:HGNC:7915, NCBI Gene:10834, RefSeq DNA:NG_000886, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 18988214 18989485 18948591 18949862 +PA31718 10833 HGNC:7916 ENSG00000182965 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 14 NPM1P14 Yes No Ensembl:ENSG00000182965, GenAtlas:NPM1P14, GeneCard:NPM1P14, HGNC:HGNC:7916, NCBI Gene:10833, RefSeq DNA:NG_000885, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596 No chr7 112160451 112162038 112520396 112521983 +PA31721 10830 HGNC:7919 ENSG00000242070 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 17 NPM1P17 Yes No Ensembl:ENSG00000242070, GenAtlas:NPM1P17, GeneCard:NPM1P17, HGNC:HGNC:7919, NCBI Gene:10830, RefSeq DNA:NG_001233, RefSeq DNA:NT_005612 No chr3 137442497 137443410 137723655 137724568 +PA31722 10829 HGNC:7920 ENSG00000225739 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 18 NPM1P18 Yes No Ensembl:ENSG00000225739, GenAtlas:NPM1P18, GeneCard:NPM1P18, HGNC:HGNC:7920, NCBI Gene:10829, RefSeq DNA:NG_001232, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 36858468 36859621 36818863 36820016 +PA31723 10828 HGNC:7921 ENSG00000223864 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 19 NPM1P19 Yes No Ensembl:ENSG00000223864, GenAtlas:NPM1P19, GeneCard:NPM1P19, HGNC:HGNC:7921, NCBI Gene:10828, RefSeq DNA:NG_001231, RefSeq DNA:NT_011362 No chr20 37606357 37607157 38977514 38978514 +PA31724 4871 HGNC:7922 ENSG00000266227 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 2 NPM1P2 NG2-6 Yes No Ensembl:ENSG00000266227, GenAtlas:NPM1P2, GeneCard:NPM1P2, HGNC:HGNC:7922, NCBI Gene:4871, RefSeq DNA:NG_009868, RefSeq DNA:NT_010966 No chr18 23784744 23786507 26204780 26206543 +PA134983842 326608 HGNC:20140 ENSG00000259161 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 20 NPM1P20 Yes No Ensembl:ENSG00000259161, GeneCard:NPM1P20, HGNC:HGNC:20140, NCBI Gene:326608, RefSeq DNA:NG_002597, RefSeq DNA:NT_026437 No chr14 102309098 102310467 101842761 101844130 +PA142671249 100129237 HGNC:13855 ENSG00000248578 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 21 NPM1P21 Yes No Ensembl:ENSG00000248578, GeneCard:NPM1P21, HGNC:HGNC:13855, NCBI Gene:100129237, RefSeq DNA:NG_011601, RefSeq DNA:NT_008183 No chr8 57013470 57014920 56100911 56102361 +PA31725 4872 HGNC:7923 ENSG00000261007 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 3 NPM1P3 NG3-3 Yes No Ensembl:ENSG00000261007, GenAtlas:NPM1P3, GeneCard:NPM1P3, HGNC:HGNC:7923, NCBI Gene:4872, RefSeq DNA:NG_001163, RefSeq DNA:NT_010393 No chr16 5415697 5417009 5365696 5367008 +PA31726 100128903 HGNC:7924 ENSG00000226703 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 4 NPM1P4 NG4-5 Yes No Ensembl:ENSG00000226703, GenAtlas:NPM1P4, GeneCard:NPM1P4, HGNC:HGNC:7924, NCBI Gene:100128903, RefSeq DNA:NG_001164, RefSeq DNA:NG_011457, RefSeq DNA:NT_024524 No chr13 28270210 28271439 27696073 27697302 +PA31727 4874 HGNC:7925 ENSG00000258925 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 5 NPM1P5 NG5-4 Yes No Ensembl:ENSG00000258925, GenAtlas:NPM1P5, GeneCard:NPM1P5, HGNC:HGNC:7925, NCBI Gene:4874, RefSeq DNA:NG_001165, RefSeq DNA:NT_010274 No chr15 92828960 92830464 92285730 92287234 +PA31728 4875 HGNC:7926 ENSG00000213881 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 NPM1P6 NG6-4 Yes No Ensembl:ENSG00000213881, GenAtlas:NPM1P6, GeneCard:NPM1P6, HGNC:HGNC:7926, NCBI Gene:4875, RefSeq DNA:NG_001166, RefSeq DNA:NT_008183 No chr8 62114814 62116104 61202255 61203545 +PA31729 10831 HGNC:7927 ENSG00000213443 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 7 NPM1P7 Yes No Ensembl:ENSG00000213443, GenAtlas:NPM1P16, GenAtlas:NPM1P7, GeneCard:NPM1P16, GeneCard:NPM1P7, HGNC:HGNC:7927, NCBI Gene:10831, RefSeq DNA:NG_001167, RefSeq DNA:NG_009459, RefSeq DNA:NT_009714 No chr12 9847883 9849145 9695287 9696549 +PA31730 100130233 HGNC:7928 ENSG00000236285 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 8 NPM1P8 Yes No Ensembl:ENSG00000236285, GenAtlas:NPM1P8, GeneCard:NPM1P8, HGNC:HGNC:7928, NCBI Gene:100130233 No chrX 32224022 32224852 32205766 32206935 +PA31731 392428 HGNC:7929 ENSG00000231066 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 9 NPM1P9 Yes No Ensembl:ENSG00000231066, GenAtlas:NPM1P9, GeneCard:NPM1P9, HGNC:HGNC:7929, NCBI Gene:392428, RefSeq DNA:NG_005106, RefSeq DNA:NT_167197 No chrX 14852280 14853539 14834158 14835417 +PA31732 10361 HGNC:7930 ENSG00000158806 nucleophosmin/nucleoplasmin 2 NPM2 Yes No Comparative Toxicogenomics Database:10361, Ensembl:ENSG00000158806, GenAtlas:NPM2, GeneCard:NPM2, HGNC:HGNC:7930, ModBase:Q86SE8, NCBI Gene:10361, OMIM:608073, RefSeq DNA:NT_167187, RefSeq Protein:NP_877724, RefSeq RNA:NM_182795, UCSC Genome Browser:NM_182795, UniProtKB:Q86SE8 No chr8 21881621 21894408 22023308 22036908 +PA31733 10360 HGNC:7931 ENSG00000107833 nucleophosmin/nucleoplasmin 3 NPM3 Yes No Comparative Toxicogenomics Database:10360, Ensembl:ENSG00000107833, GenAtlas:NPM3, GeneCard:NPM3, HGNC:HGNC:7931, HumanCyc Gene:HS03035, ModBase:O75607, NCBI Gene:10360, OMIM:606456, RefSeq DNA:NT_030059, RefSeq Protein:NP_008924, RefSeq RNA:NM_006993, UCSC Genome Browser:NM_006993, UniProtKB:O75607 No chr10 103541082 103543170 101781325 101783413 +PA142671247 255743 HGNC:27405 ENSG00000168743 nephronectin NPNT EGFL6L, POEM Yes No Ensembl:ENSG00000168743, GeneCard:NPNT, HGNC:HGNC:27405, NCBI Gene:255743, OMIM:610306, RefSeq DNA:NT_016354, RefSeq Protein:NP_001028219, RefSeq Protein:NP_001171619, RefSeq Protein:NP_001171620, RefSeq Protein:NP_001171621, RefSeq Protein:NP_001171622, RefSeq RNA:NM_001033047, RefSeq RNA:NM_001184690, RefSeq RNA:NM_001184691, RefSeq RNA:NM_001184692, RefSeq RNA:NM_001184693 No chr4 106816588 106892828 105895440 105971671 +PA256 4878 HGNC:7939 ENSG00000175206 natriuretic peptide A NPPA ANP, PND Yes Yes Comparative Toxicogenomics Database:4878, Ensembl:ENSG00000175206, GenAtlas:NPPA, GeneCard:NPPA, HGNC:HGNC:7939, HumanCyc Gene:HS10895, NCBI Gene:4878, OMIM:108780, OMIM:612201, RefSeq DNA:NG_012926, RefSeq DNA:NT_021937, RefSeq Protein:NP_006163, RefSeq RNA:NM_006172, UCSC Genome Browser:NM_006172, UniProtKB:P01160 No chr1 11905766 11907840 11845709 11847783 +PA165752124 100379251 HGNC:37635 NPPA antisense RNA 1 NPPA-AS1 Yes Yes GeneCard:NPPA-AS1, HGNC:HGNC:37635, NCBI Gene:100379251, RefSeq RNA:NR_037806 No chr1 11900376 11907673 11840319 11847616 +PA31734 4879 HGNC:7940 ENSG00000120937 natriuretic peptide B NPPB Yes No Comparative Toxicogenomics Database:4879, Ensembl:ENSG00000120937, GenAtlas:NPPB, GeneCard:NPPB, HGNC:HGNC:7940, HumanCyc Gene:HS04453, ModBase:P16860, NCBI Gene:4879, OMIM:600295, RefSeq DNA:NT_021937, RefSeq Protein:NP_002512, RefSeq RNA:NM_002521, UCSC Genome Browser:NM_002521, UniProtKB:P16860 No chr1 11917521 11918992 11857464 11858935 +PA31735 4880 HGNC:7941 ENSG00000163273 natriuretic peptide C NPPC CNP Yes No Comparative Toxicogenomics Database:4880, Ensembl:ENSG00000163273, GenAtlas:NPPC, GeneCard:NPPC, HGNC:HGNC:7941, HumanCyc Gene:HS08816, ModBase:P23582, NCBI Gene:4880, OMIM:600296, RefSeq DNA:NT_005403, RefSeq Protein:NP_077720, RefSeq RNA:NM_024409, UCSC Genome Browser:NM_024409, UniProtKB:P23582 No chr2 232786805 232791038 231922094 231926403 +PA31736 4881 HGNC:7943 ENSG00000169418 natriuretic peptide receptor 1 NPR1 guanylate cyclase A, natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) ANPRA, ANPa, GUCY2A, NPRA Yes No Comparative Toxicogenomics Database:4881, Ensembl:ENSG00000169418, GenAtlas:NPR1, GeneCard:NPR1, HGNC:HGNC:7943, HumanCyc Gene:HS09944, ModBase:P16066, NCBI Gene:4881, OMIM:108960, RefSeq DNA:NT_004487, RefSeq Protein:NP_000897, RefSeq RNA:NM_000906, UCSC Genome Browser:NM_000906, UniProtKB:P16066 No chr1 153651093 153666468 153678617 153693992 +PA257 4882 HGNC:7944 ENSG00000159899 natriuretic peptide receptor 2 NPR2 guanylate cyclase 2B, guanylate cyclase B, guanylyl cyclase B, natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) AMDM, ANPRB, ANPb, GC-B, GUCY2B, NPRB Yes No Comparative Toxicogenomics Database:4882, Ensembl:ENSG00000159899, GenAtlas:NPR2, GeneCard:NPR2, HGNC:HGNC:7944, HumanCyc Gene:HS08430, ModBase:P20594, NCBI Gene:4882, OMIM:108961, OMIM:602875, RefSeq DNA:NG_009249, RefSeq DNA:NT_008413, RefSeq Protein:NP_003986, RefSeq RNA:NM_003995, UCSC Genome Browser:NM_000907, UniProtKB:P20594 No chr9 35789962 35809728 35752945 35809731 +PA31737 4883 HGNC:7945 ENSG00000113389 natriuretic peptide receptor 3 NPR3 guanylate cyclase C, natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) ANPRC, C5orf23, FLJ14054, GUCY2B, NPRC Yes No Comparative Toxicogenomics Database:4883, Ensembl:ENSG00000113389, GenAtlas:NPR3, GeneCard:NPR3, HGNC:HGNC:7945, HumanCyc Gene:HS03678, ModBase:P17342, NCBI Gene:4883, OMIM:108962, RefSeq DNA:NT_006576, RefSeq Protein:NP_000899, RefSeq Protein:NP_001191304, RefSeq Protein:NP_001191305, RefSeq RNA:NM_000908, RefSeq RNA:NM_001204375, RefSeq RNA:NM_001204376, UCSC Genome Browser:NM_000908, UniProtKB:P17342, UniProtKB:Q60I31 No chr5 32710284 32791830 32689076 32791724 +PA165697981 10641 HGNC:24969 ENSG00000114388 NPR2 like, GATOR1 complex subunit NPRL2 nitrogen permease regulator-like 2 (S. cerevisiae) NPR2, NPR2L, TUSC4 Yes No Comparative Toxicogenomics Database:10641, Ensembl:ENSG00000114388, GeneCard:NPRL2, HGNC:HGNC:24969, HumanCyc Gene:HS12815, ModBase:Q8WTW4, NCBI Gene:10641, OMIM:607072, RefSeq DNA:NT_022517, RefSeq Protein:NP_006536, RefSeq RNA:NM_006545, UniProtKB:Q8WTW4 No chr3 50384918 50388486 50347487 50351055 +PA25550 8131 HGNC:14124 ENSG00000103148 NPR3 like, GATOR1 complex subunit NPRL3 conserved gene telomeric to alpha globin cluster, nitrogen permease regulator-like 3 (S. cerevisiae) C16orf35, CGTHBA, HS-40, MARE, NPR3, RMD11 Yes No Ensembl:ENSG00000103148, GenAtlas:C16orf35, GeneCard:C16orf35, GeneCard:NPRL3, HGNC:HGNC:14124, HumanCyc Gene:HS02459, ModBase:Q12980, NCBI Gene:8131, OMIM:600928, RefSeq DNA:NT_010393, RefSeq DNA:NT_037887, RefSeq Protein:NP_001034565, RefSeq Protein:NP_001070818, RefSeq RNA:NM_001039476, RefSeq RNA:NM_001077350, UCSC Genome Browser:NM_012075, UniProtKB:Q12980, UniProtKB:Q9BTE2 No chr16 135800 188697 85801 138698 +PA162398160 594857 HGNC:33940 ENSG00000214285 neuropeptide S NPS prepro-neuropeptide S Yes No Ensembl:ENSG00000214285, GeneCard:NPS, HGNC:HGNC:33940, NCBI Gene:594857, OMIM:609513, RefSeq DNA:NT_008818, RefSeq Protein:NP_001025184, RefSeq RNA:NM_001030013, UniProtKB:P0C0P6 No chr10 129347613 129350935 127549349 127552671 +PA134951416 387129 HGNC:23631 ENSG00000187258 neuropeptide S receptor 1 NPSR1 GPR154, GPRA, PGR14 Yes No Comparative Toxicogenomics Database:387129, Ensembl:ENSG00000187258, GeneCard:NPSR1, HGNC:HGNC:23631, IUPHAR Receptor:302, ModBase:Q6JSL7, NCBI Gene:387129, OMIM:608584, OMIM:608595, RefSeq DNA:NG_012185, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_997055, RefSeq Protein:NP_997056, RefSeq RNA:NM_207172, RefSeq RNA:NM_207173, UniProtKB:Q6W5P4 No chr7 34697897 34917944 34658239 34878332 +PA134927704 27020 HGNC:17867 ENSG00000156642 neuroplastin NPTN GP55, GP65, SDFR1, SDR1, np55, np65 Yes No Comparative Toxicogenomics Database:27020, Ensembl:ENSG00000156642, GeneCard:NPTN, HGNC:HGNC:17867, HumanCyc Gene:HS08144, ModBase:Q9Y639, NCBI Gene:27020, OMIM:612820, RefSeq DNA:NT_010194, RefSeq Protein:NP_001154835, RefSeq Protein:NP_001154836, RefSeq Protein:NP_036560, RefSeq Protein:NP_059429, RefSeq RNA:NM_001161363, RefSeq RNA:NM_001161364, RefSeq RNA:NM_012428, RefSeq RNA:NM_017455, UniProtKB:B2RAL7, UniProtKB:Q9Y639 No chr15 73852344 73925753 73560003 73633412 +PA31738 4884 HGNC:7952 ENSG00000171246 neuronal pentraxin 1 NPTX1 neuronal pentraxin I Yes No Ensembl:ENSG00000171246, GenAtlas:NPTX1, GeneCard:NPTX1, HGNC:HGNC:7952, HumanCyc Gene:HS10275, ModBase:Q15818, NCBI Gene:4884, OMIM:602367, RefSeq DNA:NT_010783, RefSeq Protein:NP_002513, RefSeq RNA:NM_002522, UCSC Genome Browser:NM_002522, UniProtKB:Q15818 No chr17 78440633 78450404 80466833 80476604 +PA31739 4885 HGNC:7953 ENSG00000106236 neuronal pentraxin 2 NPTX2 apexin, neuronal pentraxin II Yes No Comparative Toxicogenomics Database:4885, Ensembl:ENSG00000106236, GenAtlas:NPTX2, GeneCard:NPTX2, HGNC:HGNC:7953, HumanCyc Gene:HS02872, ModBase:P47972, NCBI Gene:4885, OMIM:600750, RefSeq DNA:NG_009905, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_002514, RefSeq RNA:NM_002523, UCSC Genome Browser:NM_002523, UniProtKB:P47972 No chr7 98246597 98259181 98617285 98629869 +PA31740 23467 HGNC:7954 ENSG00000221890 neuronal pentraxin receptor NPTXR Yes No Ensembl:ENSG00000221890, GenAtlas:NPTXR, GeneCard:NPTXR, HGNC:HGNC:7954, ModBase:O95502, NCBI Gene:23467, OMIM:609474, RefSeq DNA:NT_011520, RefSeq Protein:NP_055108, RefSeq RNA:NM_014293, UCSC Genome Browser:NM_014293, UniProtKB:O95502 No chr22 39214456 39240017 38818451 38844012 +PA162398161 64111 HGNC:13782 ENSG00000105954 neuropeptide VF precursor NPVF FMRFamide-related peptide precursor, RFamide-related peptide precursor C7orf9, RFRP Yes No Ensembl:ENSG00000105954, GeneCard:NPVF, HGNC:HGNC:13782, HumanCyc Gene:HS02833, ModBase:Q9HCQ7, NCBI Gene:64111, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_071433, RefSeq RNA:NM_022150, UniProtKB:Q9HCQ7 No chr7 25264189 25268105 25224570 25228486 +PA142671248 283869 HGNC:30509 ENSG00000183971 neuropeptide W NPW prepro-neuropeptide W PPL8 Yes No Ensembl:ENSG00000183971, GeneCard:NPW, HGNC:HGNC:30509, NCBI Gene:283869, OMIM:607997, RefSeq DNA:NT_010393, RefSeq Protein:NP_001092926, RefSeq RNA:NM_001099456, UniProtKB:Q8N729 No chr16 2069521 2070756 2019520 2020755 +PA255 4852 HGNC:7955 ENSG00000122585 neuropeptide Y NPY prepro-neuropeptide Y PYY4 Yes No Comparative Toxicogenomics Database:4852, Ensembl:ENSG00000122585, GenAtlas:NPY, GeneCard:NPY, HGNC:HGNC:7955, HumanCyc Gene:HS04580, ModBase:P01303, NCBI Gene:4852, OMIM:162640, RefSeq DNA:NG_016148, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000896, RefSeq RNA:NM_000905, UCSC Genome Browser:NM_000905, UniProtKB:A4D158, UniProtKB:P01303 No chr7 24323807 24331484 24284188 24291865 +PA258 4886 HGNC:7956 ENSG00000164128 neuropeptide Y receptor Y1 NPY1R NPYR Yes Yes Comparative Toxicogenomics Database:4886, Ensembl:ENSG00000164128, GenAtlas:NPY1R, GeneCard:NPY1R, HGNC:HGNC:7956, HumanCyc Gene:HS09023, IUPHAR Receptor:305, ModBase:P25929, NCBI Gene:4886, OMIM:162641, RefSeq DNA:NT_016354, RefSeq Protein:NP_000900, RefSeq RNA:NM_000909, UCSC Genome Browser:NM_000909, UniProtKB:P25929 No chr4 164245116 164265984 163323962 163344847 +PA31741 4887 HGNC:7957 ENSG00000185149 neuropeptide Y receptor Y2 NPY2R Yes No Ensembl:ENSG00000185149, GenAtlas:NPY2R, GeneCard:NPY2R, HGNC:HGNC:7957, IUPHAR Receptor:306, ModBase:P49146, NCBI Gene:4887, OMIM:162642, RefSeq DNA:NT_016354, RefSeq Protein:NP_000901, RefSeq RNA:NM_000910, UCSC Genome Browser:NM_000910, UniProtKB:P49146 No chr4 156094924 156138248 155173514 155217078 +PA33692 5540 HGNC:9329 ENSG00000204174 neuropeptide Y receptor Y4 NPY4R PP1, PPYR1, Y4 Yes No Comparative Toxicogenomics Database:5540, Ensembl:ENSG00000204174, GenAtlas:PPYR1, GeneCard:PPYR1, HGNC:HGNC:9329, IUPHAR Receptor:307, ModBase:P50391, NCBI Gene:5540, OMIM:601790, RefSeq DNA:NT_031847, RefSeq Protein:NP_005963, RefSeq RNA:NM_005972, UCSC Genome Browser:NM_005972, UniProtKB:P50391 No chr10 47083534 47088320 46458551 46470668 +PA166181586 100996758 HGNC:52383 ENSG00000264717 neuropeptide Y receptor Y4-2 NPY4R2 CH17-360D5.1 Yes No Ensembl:ENSG00000264717, HGNC:HGNC:52383, NCBI Gene:100996758 No 0 0 0 0 +PA31742 4889 HGNC:7958 ENSG00000164129 neuropeptide Y receptor Y5 NPY5R NPYR5 Yes Yes Comparative Toxicogenomics Database:4889, Ensembl:ENSG00000164129, GenAtlas:NPY5R, GeneCard:NPY5R, HGNC:HGNC:7958, HumanCyc Gene:HS09024, IUPHAR Receptor:308, ModBase:Q15761, NCBI Gene:4889, OMIM:602001, RefSeq DNA:NT_016354, RefSeq Protein:NP_006165, RefSeq RNA:NM_006174, UCSC Genome Browser:NM_006174, UniProtKB:Q15761 No chr4 164265062 164273540 163336968 163352277 +PA31743 4888 HGNC:7959 ENSG00000226306 neuropeptide Y receptor Y6 (pseudogene) NPY6R NPY1RL, NPY6RP, PP2 Yes No Ensembl:ENSG00000226306, GenAtlas:NPY6R, GeneCard:NPY6R, HGNC:HGNC:7959, ModBase:Q99463, NCBI Gene:4888, OMIM:601770, RefSeq DNA:NT_034772, RefSeq RNA:NR_002713, UCSC Genome Browser:NM_006173 No chr5 137136882 137146440 137801193 137810751 +PA31744 1728 HGNC:2874 ENSG00000181019 NAD(P)H quinone dehydrogenase 1 NQO1 """DT-diaphorase"", ""NAD(P)H dehydrogenase, quinone 1"", ""NAD(P)H-quinone oxidoreductase"", ""quinone reductase""" DHQU, DIA4, DTD, NMOR1, QR1 Yes Yes Comparative Toxicogenomics Database:1728, Ensembl:ENSG00000181019, GenAtlas:NQO1, GeneCard:NQO1, HGNC:HGNC:2874, HumanCyc Gene:HS01604, HumanCyc Gene:HS11566, ModBase:P15559, NCBI Gene:1728, OMIM:125860, RefSeq DNA:NG_011504, RefSeq DNA:NT_010498, RefSeq Protein:NP_000894, RefSeq Protein:NP_001020604, RefSeq Protein:NP_001020605, RefSeq RNA:NM_000903, RefSeq RNA:NM_001025433, RefSeq RNA:NM_001025434, UCSC Genome Browser:NM_000903, UniProtKB:B7ZAD1, UniProtKB:P15559 No chr16 69743304 69760849 69709401 69726668 +PA31745 4835 HGNC:7856 ENSG00000124588 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 NQO2 """N-ribosyldihydronicotinamide:quinone reductase 2"", ""NAD(P)H dehydrogenase, quinone 2"", ""NRH:quinone oxidoreductase 2"", ""quinone reductase 2""" DHQV, DIA6, NMOR2, QR2 Yes Yes Comparative Toxicogenomics Database:4835, Ensembl:ENSG00000124588, GenAtlas:NQO2, GeneCard:NQO2, HGNC:HGNC:7856, HumanCyc Gene:HS04802, ModBase:P16083, NCBI Gene:4835, OMIM:114480, OMIM:160998, RefSeq DNA:NT_007592, RefSeq Protein:NP_000895, RefSeq RNA:NM_000904, UCSC Genome Browser:NM_000904, UniProtKB:P16083 No chr6 3000067 3019997 2999816 3019876 +PA31746 190 HGNC:7960 ENSG00000169297 nuclear receptor subfamily 0 group B member 1 NR0B1 nuclear receptor subfamily 0, group B, member 1 AHC, AHCH, DAX1, DSS Yes No Comparative Toxicogenomics Database:190, Ensembl:ENSG00000169297, GenAtlas:NR0B1, GeneCard:NR0B1, HGNC:HGNC:7960, HumanCyc Gene:HS09923, ModBase:P51843, NCBI Gene:190, OMIM:300018, OMIM:300200, OMIM:300473, RefSeq DNA:NG_009814, RefSeq DNA:NT_167197, RefSeq Protein:NP_000466, RefSeq RNA:NM_000475, UCSC Genome Browser:NM_000475, UniProtKB:P51843 No chrX 30322539 30327495 30304422 30309399 +PA31747 8431 HGNC:7961 ENSG00000131910 nuclear receptor subfamily 0 group B member 2 NR0B2 nuclear receptor subfamily 0, group B, member 2 SHP Yes No Comparative Toxicogenomics Database:8431, Ensembl:ENSG00000131910, GenAtlas:NR0B2, GeneCard:NR0B2, HGNC:HGNC:7961, HumanCyc Gene:HS05583, ModBase:Q15466, NCBI Gene:8431, OMIM:601665, OMIM:604630, RefSeq DNA:NG_012143, RefSeq DNA:NT_004610, RefSeq Protein:NP_068804, RefSeq RNA:NM_021969, UCSC Genome Browser:NM_021969, UniProtKB:Q15466 No chr1 27237975 27240567 26911484 26914076 +PA31748 9572 HGNC:7962 ENSG00000126368 nuclear receptor subfamily 1 group D member 1 NR1D1 nuclear receptor subfamily 1, group D, member 1 REVERBA, REVERBalpha, Rev-ErbAalpha, THRA1, THRAL, ear-1, hRev Yes Yes Comparative Toxicogenomics Database:9572, Ensembl:ENSG00000126368, GenAtlas:NR1D1, GeneCard:NR1D1, HGNC:HGNC:7962, HumanCyc Gene:HS05014, ModBase:P20393, NCBI Gene:9572, OMIM:602408, RefSeq DNA:NT_010783, RefSeq Protein:NP_068370, RefSeq RNA:NM_021724, UCSC Genome Browser:NM_021724, UniProtKB:P20393 No chr17 38249037 38256978 40092784 40100725 +PA31749 9975 HGNC:7963 ENSG00000174738 nuclear receptor subfamily 1 group D member 2 NR1D2 nuclear receptor subfamily 1, group D, member 2 BD73, EAR-1r, HZF2, Hs.37288, REVERBB, REVERBbeta, RVR Yes No Comparative Toxicogenomics Database:9975, Ensembl:ENSG00000174738, GenAtlas:NR1D2, GeneCard:NR1D2, HGNC:HGNC:7963, HumanCyc Gene:HS10824, ModBase:Q14995, NCBI Gene:9975, OMIM:602304, RefSeq DNA:NT_022517, RefSeq Protein:NP_001138897, RefSeq Protein:NP_005117, RefSeq RNA:NM_001145425, RefSeq RNA:NM_005126, UCSC Genome Browser:NM_005126, UniProtKB:B4DXD3, UniProtKB:Q14995 No chr3 23986751 24022109 23945260 23980618 +PA31750 7376 HGNC:7965 ENSG00000131408 nuclear receptor subfamily 1 group H member 2 NR1H2 """liver X receptor-beta"", ""nuclear receptor subfamily 1, group H, member 2""" LXR-b, LXRb, NER, NER-I, RIP15, UNR Yes Yes Comparative Toxicogenomics Database:7376, Ensembl:ENSG00000131408, GenAtlas:NR1H2, GeneCard:NR1H2, HGNC:HGNC:7965, HumanCyc Gene:HS05524, ModBase:P55055, NCBI Gene:7376, OMIM:600380, RefSeq DNA:NT_011109, RefSeq Protein:NP_009052, RefSeq RNA:NM_007121, UCSC Genome Browser:NM_007121, UniProtKB:P55055 No chr19 50879680 50886285 50376423 50383028 +PA31751 10062 HGNC:7966 ENSG00000025434 nuclear receptor subfamily 1 group H member 3 NR1H3 """liver X receptor-alpha"", ""nuclear receptor subfamily 1, group H, member 3""" LXR-a, LXRa, RLD-1 Yes Yes Comparative Toxicogenomics Database:10062, Ensembl:ENSG00000025434, GenAtlas:NR1H3, GeneCard:NR1H3, HGNC:HGNC:7966, HumanCyc Gene:HS00441, ModBase:Q13133, NCBI Gene:10062, OMIM:602423, RefSeq DNA:NT_009237, RefSeq Protein:NP_001123573, RefSeq Protein:NP_001123574, RefSeq Protein:NP_005684, RefSeq RNA:NM_001130101, RefSeq RNA:NM_001130102, RefSeq RNA:NM_005693, UCSC Genome Browser:NM_005693, UniProtKB:Q13133, UniProtKB:Q8IW13 No chr11 47269851 47290584 47248300 47269033 +PA31752 9971 HGNC:7967 ENSG00000012504 nuclear receptor subfamily 1 group H member 4 NR1H4 """bile acid receptor"", ""farnesoid X receptor"", ""nuclear receptor subfamily 1, group H, member 4""" FXR, HRR-1, HRR1, RIP14 Yes Yes Comparative Toxicogenomics Database:9971, Ensembl:ENSG00000012504, GenAtlas:NR1H4, GeneCard:NR1H4, HGNC:HGNC:7967, HumanCyc Gene:HS00334, ModBase:Q96RI1, NCBI Gene:9971, OMIM:603826, RefSeq DNA:NT_029419, RefSeq Protein:NP_001193906, RefSeq Protein:NP_001193907, RefSeq Protein:NP_001193908, RefSeq Protein:NP_001193921, RefSeq Protein:NP_001193922, RefSeq Protein:NP_005114, RefSeq RNA:NM_001206977, RefSeq RNA:NM_001206978, RefSeq RNA:NM_001206979, RefSeq RNA:NM_001206992, RefSeq RNA:NM_001206993, RefSeq RNA:NM_005123, UCSC Genome Browser:NM_005123, UniProtKB:B6ZGS9, UniProtKB:Q96RI1 No chr12 100867486 100957645 100473773 100563867 +PA378 8856 HGNC:7968 ENSG00000144852 nuclear receptor subfamily 1 group I member 2 NR1I2 """nuclear receptor subfamily 1, group I, member 2"", ""orphan nuclear receptor PXR"", ""pregnane X receptor""" BXR, ONR1, PAR2, PXR, SXR Yes Yes Comparative Toxicogenomics Database:8856, Ensembl:ENSG00000144852, GenAtlas:NR1I2, GeneCard:NR1I2, HGNC:HGNC:7968, HumanCyc Gene:HS07212, ModBase:Q9UJ26, NCBI Gene:8856, OMIM:603065, RefSeq DNA:NG_011856, RefSeq DNA:NT_005612, RefSeq Protein:NP_003880, RefSeq Protein:NP_071285, RefSeq Protein:NP_148934, RefSeq RNA:NM_003889, RefSeq RNA:NM_022002, RefSeq RNA:NM_033013, UCSC Genome Browser:NM_003889, UniProtKB:O75469 No chr3 119499331 119552295 119780484 119818485 +PA391 9970 HGNC:7969 ENSG00000143257 nuclear receptor subfamily 1 group I member 3 NR1I3 """constitutive androstane receptor"", ""nuclear receptor subfamily 1, group I, member 3""" CAR, CAR1, MB67 Yes Yes Comparative Toxicogenomics Database:9970, Ensembl:ENSG00000143257, GenAtlas:NR1I3, GeneCard:NR1I3, HGNC:HGNC:7969, HumanCyc Gene:HS07016, ModBase:Q14994, NCBI Gene:9970, OMIM:603881, RefSeq DNA:NT_004487, RefSeq Protein:NP_001070937, RefSeq Protein:NP_001070938, RefSeq Protein:NP_001070939, RefSeq Protein:NP_001070940, RefSeq Protein:NP_001070941, RefSeq Protein:NP_001070942, RefSeq Protein:NP_001070943, RefSeq Protein:NP_001070944, RefSeq Protein:NP_001070945, RefSeq Protein:NP_001070946, RefSeq Protein:NP_001070947, RefSeq Protein:NP_001070948, RefSeq Protein:NP_001070949, RefSeq Protein:NP_001070950, RefSeq Protein:NP_005113, RefSeq RNA:NM_001077469, RefSeq RNA:NM_001077470, RefSeq RNA:NM_001077471, RefSeq RNA:NM_001077472, RefSeq RNA:NM_001077473, RefSeq RNA:NM_001077474, RefSeq RNA:NM_001077475, RefSeq RNA:NM_001077476, RefSeq RNA:NM_001077477, RefSeq RNA:NM_001077478, RefSeq RNA:NM_001077479, RefSeq RNA:NM_001077480, RefSeq RNA:NM_001077481, RefSeq RNA:NM_001077482, RefSeq RNA:NM_005122, UCSC Genome Browser:NM_005122, UniProtKB:Q0VAC9, UniProtKB:Q14994, UniProtKB:Q4U0F0, UniProtKB:Q6GZ68, UniProtKB:Q6GZ76, UniProtKB:Q6GZ77, UniProtKB:Q6GZ78, UniProtKB:Q6GZ79, UniProtKB:Q6GZ82, UniProtKB:Q6GZ83, UniProtKB:Q6GZ84, UniProtKB:Q6GZ85, UniProtKB:Q6GZ87, UniProtKB:Q6GZ89 No chr1 161199456 161208432 161229666 161238623 +PA31753 22817 HGNC:7970 nuclear receptor subfamily 1, group I, member 4 NR1I4 Yes No GenAtlas:NR1I4, GeneCard:NR1I4, HGNC:HGNC:7970, NCBI Gene:22817 No +PA31754 7181 HGNC:7971 ENSG00000120798 nuclear receptor subfamily 2 group C member 1 NR2C1 nuclear receptor subfamily 2, group C, member 1 TR2, TR2-11 Yes No Comparative Toxicogenomics Database:7181, Ensembl:ENSG00000120798, GenAtlas:NR2C1, GeneCard:NR2C1, HGNC:HGNC:7971, HumanCyc Gene:HS04435, ModBase:P13056, NCBI Gene:7181, OMIM:601529, RefSeq DNA:NT_029419, RefSeq Protein:NP_001027458, RefSeq Protein:NP_001120834, RefSeq Protein:NP_003288, RefSeq RNA:NM_001032287, RefSeq RNA:NM_001127362, RefSeq RNA:NM_003297, UCSC Genome Browser:NM_003297, UniProtKB:P13056 No chr12 95414005 95467404 95020229 95073628 +PA31755 7182 HGNC:7972 ENSG00000177463 nuclear receptor subfamily 2 group C member 2 NR2C2 nuclear receptor subfamily 2, group C, member 2 TAK1, TR2R1, TR4, hTAK1 Yes No Comparative Toxicogenomics Database:7182, Ensembl:ENSG00000177463, GenAtlas:NR2C2, GeneCard:NR2C2, HGNC:HGNC:7972, HumanCyc Gene:HS11171, ModBase:P49116, NCBI Gene:7182, OMIM:601426, RefSeq DNA:NT_022517, RefSeq Protein:NP_003289, RefSeq RNA:NM_003298, UCSC Genome Browser:NM_003298, UniProtKB:P49116, UniProtKB:Q6PHZ7 No chr3 14989091 15090780 14947584 15049279 +PA162398172 126382 HGNC:30763 ENSG00000184162 nuclear receptor 2C2 associated protein NR2C2AP TR4 orphan receptor associated protein TRA16, nuclear receptor 2C2-associated protein TRA16 Yes No Ensembl:ENSG00000184162, GeneCard:NR2C2AP, HGNC:HGNC:30763, ModBase:Q86WQ0, NCBI Gene:126382, OMIM:608719, RefSeq DNA:NT_011295, RefSeq Protein:NP_795361, RefSeq RNA:NM_176880, UniProtKB:Q86WQ0 No chr19 19312223 19314238 19201409 19203453 +PA31756 7101 HGNC:7973 ENSG00000112333 nuclear receptor subfamily 2 group E member 1 NR2E1 """nuclear receptor subfamily 2, group E, member 1"", ""tailless""" TLL, TLX, XTLL Yes No Ensembl:ENSG00000112333, GenAtlas:NR2E1, GeneCard:NR2E1, HGNC:HGNC:7973, HumanCyc Gene:HS03560, ModBase:Q9Y466, NCBI Gene:7101, OMIM:603849, RefSeq DNA:NT_025741, RefSeq Protein:NP_003260, RefSeq RNA:NM_003269, UCSC Genome Browser:NM_003269, UniProtKB:B6ZGT9, UniProtKB:Q9Y466 No chr6 108487215 108510013 108166058 108188809 +PA31757 10002 HGNC:7974 ENSG00000278570 nuclear receptor subfamily 2 group E member 3 NR2E3 nuclear receptor subfamily 2, group E, member 3 PNR, RP37, rd7 Yes No Comparative Toxicogenomics Database:10002, Ensembl:ENSG00000278570, GenAtlas:NR2E3, GeneCard:NR2E3, HGNC:HGNC:7974, HumanCyc Gene:HS00480, ModBase:Q9Y5X4, NCBI Gene:10002, OMIM:268100, OMIM:604485, OMIM:611131, RefSeq DNA:NG_009113, RefSeq DNA:NT_010194, RefSeq Protein:NP_055064, RefSeq Protein:NP_057430, RefSeq RNA:NM_014249, RefSeq RNA:NM_016346, UCSC Genome Browser:NM_014249, UniProtKB:B6ZGU0, UniProtKB:Q9Y5X4 No chr15 72102888 72110600 71810548 71818259 +PA31758 7025 HGNC:7975 ENSG00000175745 nuclear receptor subfamily 2 group F member 1 NR2F1 nuclear receptor subfamily 2, group F, member 1 COUP-TFI, COUPTF1, EAR-3, ERBAL3, SVP44, TCFCOUP1, TFCOUP1 Yes No Comparative Toxicogenomics Database:7025, Ensembl:ENSG00000175745, GenAtlas:NR2F1, GeneCard:NR2F1, HGNC:HGNC:7975, HumanCyc Gene:HS10970, ModBase:P10589, NCBI Gene:7025, OMIM:132890, RefSeq DNA:NT_034772, RefSeq Protein:NP_005645, RefSeq RNA:NM_005654, UCSC Genome Browser:NM_005654, UniProtKB:P10589 No chr5 92919043 92930319 93583337 93594613 +PA31759 7026 HGNC:7976 ENSG00000185551 nuclear receptor subfamily 2 group F member 2 NR2F2 """COUP transcription factor II"", ""nuclear receptor subfamily 2, group F, member 2""" ARP1, COUP-TFII, COUPTF2, COUPTFB, NF-E3, SVP40, TFCOUP2 Yes No Comparative Toxicogenomics Database:7026, Ensembl:ENSG00000185551, GenAtlas:NR2F2, GeneCard:NR2F2, HGNC:HGNC:7976, ModBase:P24468, NCBI Gene:7026, OMIM:107773, RefSeq DNA:NG_016753, RefSeq DNA:NT_010274, RefSeq Protein:NP_001138627, RefSeq Protein:NP_001138628, RefSeq Protein:NP_001138629, RefSeq Protein:NP_066285, RefSeq RNA:NM_001145155, RefSeq RNA:NM_001145156, RefSeq RNA:NM_001145157, RefSeq RNA:NM_021005, UCSC Genome Browser:NM_021005, UniProtKB:B4DQJ2, UniProtKB:P24468, UniProtKB:Q3KQR7 No chr15 96869157 96883492 96325928 96340263 +PA31760 2063 HGNC:7977 ENSG00000160113 nuclear receptor subfamily 2 group F member 6 NR2F6 nuclear receptor subfamily 2, group F, member 6 EAR-2, EAR2, ERBAL2 Yes No Comparative Toxicogenomics Database:2063, Ensembl:ENSG00000160113, GenAtlas:NR2F6, GeneCard:NR2F6, HGNC:HGNC:7977, HumanCyc Gene:HS08447, ModBase:P10588, NCBI Gene:2063, OMIM:132880, RefSeq DNA:NT_011295, RefSeq Protein:NP_005225, RefSeq RNA:NM_005234, UCSC Genome Browser:NM_005234, UniProtKB:P10588 No chr19 17342692 17356744 17231885 17245342 +PA181 2908 HGNC:7978 ENSG00000113580 nuclear receptor subfamily 3 group C member 1 NR3C1 """glucocorticoid receptor"", ""nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)""" GR, GRL Yes Yes Comparative Toxicogenomics Database:2908, Ensembl:ENSG00000113580, GenAtlas:NR3C1, GeneCard:NR3C1, HGNC:HGNC:7978, HumanCyc Gene:HS03698, ModBase:P04150, NCBI Gene:2908, OMIM:138040, RefSeq DNA:NG_009062, RefSeq DNA:NT_029289, RefSeq Protein:NP_000167, RefSeq Protein:NP_001018084, RefSeq Protein:NP_001018085, RefSeq Protein:NP_001018086, RefSeq Protein:NP_001018087, RefSeq Protein:NP_001018661, RefSeq Protein:NP_001019265, RefSeq Protein:NP_001191187, RefSeq Protein:NP_001191188, RefSeq Protein:NP_001191189, RefSeq Protein:NP_001191190, RefSeq Protein:NP_001191191, RefSeq Protein:NP_001191192, RefSeq Protein:NP_001191193, RefSeq Protein:NP_001191194, RefSeq RNA:NM_000176, RefSeq RNA:NM_001018074, RefSeq RNA:NM_001018075, RefSeq RNA:NM_001018076, RefSeq RNA:NM_001018077, RefSeq RNA:NM_001020825, RefSeq RNA:NM_001024094, RefSeq RNA:NM_001204258, RefSeq RNA:NM_001204259, RefSeq RNA:NM_001204260, RefSeq RNA:NM_001204261, RefSeq RNA:NM_001204262, RefSeq RNA:NM_001204263, RefSeq RNA:NM_001204264, RefSeq RNA:NM_001204265, UCSC Genome Browser:NM_000176, UniProtKB:P04150 No chr5 142657496 143113322 143277931 143435512 +PA28989 2910 HGNC:4592 nuclear receptor subfamily 3, group C, member 1 pseudogene 1 NR3C1P1 Yes No GenAtlas:NR3C1P, GeneCard:NR3C1P1, HGNC:HGNC:4592, NCBI Gene:2910, OMIM:138060 No chr16 87500742 87501291 87467136 87467670 +PA242 4306 HGNC:7979 ENSG00000151623 nuclear receptor subfamily 3 group C member 2 NR3C2 nuclear receptor subfamily 3, group C, member 2 MLR, MR Yes Yes Comparative Toxicogenomics Database:4306, Ensembl:ENSG00000151623, GenAtlas:NR3C2, GeneCard:NR3C2, HGNC:HGNC:7979, HumanCyc Gene:HS07752, ModBase:P08235, NCBI Gene:4306, OMIM:177735, OMIM:600983, OMIM:605115, RefSeq DNA:NG_013350, RefSeq DNA:NT_016354, RefSeq Protein:NP_000892, RefSeq Protein:NP_001159576, RefSeq RNA:NM_000901, RefSeq RNA:NM_001166104, UCSC Genome Browser:NM_000901, UniProtKB:B0ZBF5, UniProtKB:B0ZBF6, UniProtKB:P08235, UniProtKB:Q2NKL1 No chr4 148999915 149365850 148078764 148445287 +PA31761 3164 HGNC:7980 ENSG00000123358 nuclear receptor subfamily 4 group A member 1 NR4A1 nuclear receptor subfamily 4, group A, member 1 GFRP1, HMR, N10, NAK-1, NGFIB, NUR77, TR3 Yes No Comparative Toxicogenomics Database:3164, Ensembl:ENSG00000123358, GenAtlas:NR4A1, GeneCard:NR4A1, HGNC:HGNC:7980, HumanCyc Gene:HS04650, ModBase:P22736, NCBI Gene:3164, OMIM:139139, RefSeq DNA:NT_029419, RefSeq Protein:NP_001189162, RefSeq Protein:NP_002126, RefSeq Protein:NP_775180, RefSeq RNA:NM_001202233, RefSeq RNA:NM_002135, RefSeq RNA:NM_173157, UCSC Genome Browser:NM_002135, UniProtKB:P22736, UniProtKB:Q53Y00 No chr12 52416616 52453291 52022832 52059507 +PA31762 4929 HGNC:7981 ENSG00000153234 nuclear receptor subfamily 4 group A member 2 NR4A2 nuclear receptor subfamily 4, group A, member 2 HZF-3, NOT, NURR1, RNR1, TINUR Yes No Comparative Toxicogenomics Database:4929, Ensembl:ENSG00000153234, GenAtlas:NR4A2, GeneCard:NR4A2, HGNC:HGNC:7981, HumanCyc Gene:HS07895, ModBase:P43354, NCBI Gene:4929, OMIM:168600, OMIM:601828, RefSeq DNA:NG_011821, RefSeq DNA:NT_005403, RefSeq Protein:NP_006177, RefSeq RNA:NM_006186, UCSC Genome Browser:NM_006186, UniProtKB:P43354, UniProtKB:Q53EL4 No chr2 157180944 157189287 156324432 156334683 +PA31763 8013 HGNC:7982 ENSG00000119508 nuclear receptor subfamily 4 group A member 3 NR4A3 nuclear receptor subfamily 4, group A, member 3 CHN, CSMF, MINOR, NOR1 Yes No Comparative Toxicogenomics Database:8013, Ensembl:ENSG00000119508, GenAtlas:NR4A3, GeneCard:NR4A3, HGNC:HGNC:7982, HumanCyc Gene:HS04303, ModBase:Q92570, NCBI Gene:8013, OMIM:600542, OMIM:612237, RefSeq DNA:NT_008470, RefSeq Protein:NP_008912, RefSeq Protein:NP_775290, RefSeq Protein:NP_775291, RefSeq Protein:NP_775292, RefSeq RNA:NM_006981, RefSeq RNA:NM_173198, RefSeq RNA:NM_173199, RefSeq RNA:NM_173200, UCSC Genome Browser:NM_006981, UniProtKB:Q92570 No chr9 102584137 102629173 99821855 99866893 +PA31764 2516 HGNC:7983 ENSG00000136931 nuclear receptor subfamily 5 group A member 1 NR5A1 """nuclear receptor subfamily 5, group A, member 1"", ""steroidogenic factor 1""" AD4BP, ELP, FTZ1, FTZF1, SF-1, SF1, hSF-1 Yes No Comparative Toxicogenomics Database:2516, Ensembl:ENSG00000136931, GenAtlas:NR5A1, GeneCard:NR5A1, HGNC:HGNC:7983, HumanCyc Gene:HS06246, ModBase:Q13285, NCBI Gene:2516, OMIM:184757, OMIM:612964, OMIM:612965, RefSeq DNA:NG_008176, RefSeq DNA:NT_008470, RefSeq Protein:NP_004950, RefSeq RNA:NM_004959, UCSC Genome Browser:NM_004959, UniProtKB:Q13285 No chr9 127243515 127269769 124481234 124507420 +PA31765 2494 HGNC:7984 ENSG00000116833 nuclear receptor subfamily 5 group A member 2 NR5A2 """liver receptor homolog-1"", ""nuclear receptor subfamily 5, group A, member 2""" B1F2, FTF, FTZ-F1, FTZ-F1beta, LRH-1, LRH1, hB1F, hB1F-2 Yes No Comparative Toxicogenomics Database:2494, Ensembl:ENSG00000116833, GenAtlas:NR5A2, GeneCard:NR5A2, HGNC:HGNC:7984, HumanCyc Gene:HS04062, ModBase:O00482, NCBI Gene:2494, OMIM:604453, RefSeq DNA:NT_004487, RefSeq Protein:NP_003813, RefSeq Protein:NP_995582, RefSeq RNA:NM_003822, RefSeq RNA:NM_205860, UCSC Genome Browser:NM_003822, UniProtKB:O00482, UniProtKB:Q9UEC0 No chr1 199996730 200146552 200027602 200177424 +PA31766 2649 HGNC:7985 ENSG00000148200 nuclear receptor subfamily 6 group A member 1 NR6A1 nuclear receptor subfamily 6, group A, member 1 CT150, GCNF, GCNF1, RTR Yes No Comparative Toxicogenomics Database:2649, Ensembl:ENSG00000148200, GenAtlas:NR6A1, GeneCard:NR6A1, HGNC:HGNC:7985, HumanCyc Gene:HS07499, ModBase:Q15406, NCBI Gene:2649, OMIM:602778, RefSeq DNA:NT_008470, RefSeq Protein:NP_001480, RefSeq Protein:NP_201591, RefSeq RNA:NM_001489, RefSeq RNA:NM_033334, UCSC Genome Browser:NM_001489, UniProtKB:Q15406 No chr9 127279554 127533589 124517275 124771310 +PA31767 4892 HGNC:7988 ENSG00000197893 nebulin related anchoring protein NRAP nebulin-related anchoring protein Yes No Comparative Toxicogenomics Database:4892, Ensembl:ENSG00000197893, GenAtlas:NRAP, GeneCard:NRAP, HGNC:HGNC:7988, ModBase:Q8TCH0, NCBI Gene:4892, OMIM:602873, RefSeq DNA:NT_030059, RefSeq Protein:NP_006166, RefSeq Protein:NP_932326, RefSeq RNA:NM_006175, RefSeq RNA:NM_198060, UCSC Genome Browser:NM_006175, UniProtKB:Q6NV74, UniProtKB:Q86VF7 No chr10 115348583 115423829 113588824 113664070 +PA164724205 441478 HGNC:33843 ENSG00000198435 NOTCH regulated ankyrin repeat protein NRARP NOTCH-regulated ankyrin repeat protein MGC61598 Yes No Ensembl:ENSG00000198435, GeneCard:NRARP, HGNC:HGNC:33843, ModBase:Q7Z6K4, NCBI Gene:441478, RefSeq DNA:NT_024000, RefSeq Protein:NP_001004354, RefSeq RNA:NM_001004354, UniProtKB:Q7Z6K4 No chr9 140194083 140196703 137299631 137302251 +PA31768 4893 HGNC:7989 ENSG00000213281 NRAS proto-oncogene, GTPase NRAS neuroblastoma RAS viral (v-ras) oncogene homolog N-ras Yes Yes Comparative Toxicogenomics Database:4893, Ensembl:ENSG00000213281, GenAtlas:NRAS, GeneCard:NRAS, HGNC:HGNC:7989, HumanCyc Gene:HS09797, ModBase:P01111, NCBI Gene:4893, OMIM:114500, OMIM:164790, OMIM:188470, OMIM:613224, RefSeq DNA:NG_007572, RefSeq DNA:NT_032977, RefSeq Protein:NP_002515, RefSeq RNA:NM_002524, UCSC Genome Browser:NM_002524, UniProtKB:P01111, UniProtKB:Q5U091 No chr1 115247085 115259515 114704464 114716894 +PA134946285 29982 HGNC:19692 ENSG00000148572 nuclear receptor binding factor 2 NRBF2 comodulator of PPAR and RXR 1, comodulator of PPAR and RXR 2 COPR1, COPR2, DKFZp564C1664, FLJ30395 Yes No Comparative Toxicogenomics Database:29982, Ensembl:ENSG00000148572, GeneCard:NRBF2, HGNC:HGNC:19692, HumanCyc Gene:HS07538, ModBase:Q96F24, NCBI Gene:29982, RefSeq DNA:NT_030059, RefSeq Protein:NP_110386, RefSeq RNA:NM_030759, UniProtKB:Q96F24 No chr10 64893007 64914786 63133247 63155031 +PA31772 29959 HGNC:7993 ENSG00000115216 nuclear receptor binding protein 1 NRBP1 BCON3, MADM, MUDPNP, NRBP Yes No Comparative Toxicogenomics Database:29959, Ensembl:ENSG00000115216, GenAtlas:NRBP1, GeneCard:NRBP1, HGNC:HGNC:7993, HumanCyc Gene:HS03849, ModBase:Q9UHY1, NCBI Gene:29959, OMIM:606010, RefSeq DNA:NT_022184, RefSeq Protein:NP_037524, RefSeq RNA:NM_013392, UCSC Genome Browser:NM_013392, UniProtKB:Q9UHY1 No chr2 27651473 27665126 27427790 27442259 +PA134891143 340371 HGNC:19339 ENSG00000185189 nuclear receptor binding protein 2 NRBP2 DKFZp434P086 Yes No Comparative Toxicogenomics Database:340371, Ensembl:ENSG00000185189, GeneCard:NRBP2, HGNC:HGNC:19339, ModBase:Q9NSY0, NCBI Gene:340371, RefSeq DNA:NT_008046, RefSeq Protein:NP_848659, RefSeq RNA:NM_178564, UniProtKB:Q9NSY0 No chr8 144915755 144924200 143829776 143840974 +PA31773 4897 HGNC:7994 ENSG00000091129 neuronal cell adhesion molecule NRCAM NgCAM-related cell adhesion molecule Bravo, KIAA0343 Yes No Ensembl:ENSG00000091129, GenAtlas:NRCAM, GeneCard:NRCAM, HGNC:HGNC:7994, HumanCyc Gene:HS01723, ModBase:Q92823, NCBI Gene:4897, OMIM:601581, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001032209, RefSeq Protein:NP_001032210, RefSeq Protein:NP_001180511, RefSeq Protein:NP_001180512, RefSeq Protein:NP_001180513, RefSeq Protein:NP_005001, RefSeq RNA:NM_001037132, RefSeq RNA:NM_001037133, RefSeq RNA:NM_001193582, RefSeq RNA:NM_001193583, RefSeq RNA:NM_001193584, RefSeq RNA:NM_005010, UCSC Genome Browser:NM_005010, UniProtKB:Q6QRP2, UniProtKB:Q92823 No chr7 107788071 108096841 108147626 108456442 +PA31774 4898 HGNC:7995 ENSG00000078618 nardilysin convertase NRDC N-arginine dibasic convertase, nardilysin (N-arginine dibasic convertase) NRD1, hNRD1, hNRD2 Yes No Comparative Toxicogenomics Database:4898, Ensembl:ENSG00000078618, GenAtlas:NRD1, GeneCard:NRD1, HGNC:HGNC:7995, HumanCyc Gene:HS01293, ModBase:O43847, NCBI Gene:4898, OMIM:602651, RefSeq DNA:NT_032977, RefSeq Protein:NP_001095132, RefSeq Protein:NP_001229290, RefSeq Protein:NP_002516, RefSeq RNA:NM_001101662, RefSeq RNA:NM_001242361, RefSeq RNA:NM_002525, UCSC Genome Browser:NM_002525, UniProtKB:B1AKJ5, UniProtKB:O43847, UniProtKB:Q6UUU9 No chr1 52254864 52344609 51789192 51878937 +PA134926790 55051 HGNC:20186 ENSG00000119720 NRDE-2, necessary for RNA interference, domain containing NRDE2 C14orf102, FLJ14051 Yes No Ensembl:ENSG00000119720, GeneCard:C14orf102, HGNC:HGNC:20186, HumanCyc Gene:HS12954, ModBase:Q9H7Z3, NCBI Gene:55051, RefSeq DNA:NT_026437, RefSeq Protein:NP_060440, RefSeq Protein:NP_950244, RefSeq RNA:NM_017970, RefSeq RNA:NM_199043, UniProtKB:Q9H7Z3 No chr14 90744398 90798481 90274276 90332137 +PA128394547 9315 HGNC:16834 ENSG00000134986 neuronal regeneration related protein NREP neuronal protein 3.1 C5orf13, D4S114, P311, PRO1873, PTZ17, SEZ17 Yes No Comparative Toxicogenomics Database:9315, Ensembl:ENSG00000134986, GeneCard:C5orf13, HGNC:HGNC:16834, HumanCyc Gene:HS13555, NCBI Gene:9315, OMIM:607332, RefSeq DNA:NT_034772, RefSeq DNA:NT_079592, RefSeq Protein:NP_001135946, RefSeq Protein:NP_001135947, RefSeq Protein:NP_001135948, RefSeq Protein:NP_001135949, RefSeq Protein:NP_001135950, RefSeq Protein:NP_001135951, RefSeq Protein:NP_001135952, RefSeq Protein:NP_001135953, RefSeq Protein:NP_001135954, RefSeq Protein:NP_001135955, RefSeq Protein:NP_004763, RefSeq RNA:NM_001142474, RefSeq RNA:NM_001142475, RefSeq RNA:NM_001142476, RefSeq RNA:NM_001142477, RefSeq RNA:NM_001142478, RefSeq RNA:NM_001142479, RefSeq RNA:NM_001142480, RefSeq RNA:NM_001142481, RefSeq RNA:NM_001142482, RefSeq RNA:NM_001142483, RefSeq RNA:NM_004772, UCSC Genome Browser:NM_004772, UniProtKB:B7Z5D2, UniProtKB:Q16612 No chr5 111065000 111312628 111729303 111976931 +PA31775 4899 HGNC:7996 ENSG00000106459 nuclear respiratory factor 1 NRF1 alpha palindromic-binding protein ALPHA-PAL, EWG Yes No Comparative Toxicogenomics Database:4899, Ensembl:ENSG00000106459, GenAtlas:NRF1, GeneCard:NRF1, HGNC:HGNC:7996, HumanCyc Gene:HS02910, ModBase:Q16656, NCBI Gene:4899, OMIM:600879, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001035199, RefSeq Protein:NP_005002, RefSeq RNA:NM_001040110, RefSeq RNA:NM_005011, UCSC Genome Browser:NM_005011, UniProtKB:Q16656, UniProtKB:Q96AN2 No chr7 129251555 129396922 129611702 129757082 +PA31776 3084 HGNC:7997 ENSG00000157168 neuregulin 1 NRG1 GGF, HGL, HRG, NDF, NRG1-IT2 Yes Yes Comparative Toxicogenomics Database:3084, Ensembl:ENSG00000157168, GenAtlas:NRG1, GeneCard:NRG1, HGNC:HGNC:7997, HumanCyc Gene:HS08186, ModBase:Q15491, ModBase:Q7RTW2, NCBI Gene:3084, OMIM:142445, OMIM:603013, RefSeq DNA:NG_012005, RefSeq DNA:NT_167187, RefSeq Protein:NP_001153467, RefSeq Protein:NP_001153468, RefSeq Protein:NP_001153471, RefSeq Protein:NP_001153473, RefSeq Protein:NP_001153474, RefSeq Protein:NP_001153476, RefSeq Protein:NP_001153477, RefSeq Protein:NP_001153479, RefSeq Protein:NP_001153480, RefSeq Protein:NP_004486, RefSeq Protein:NP_039250, RefSeq Protein:NP_039251, RefSeq Protein:NP_039252, RefSeq Protein:NP_039253, RefSeq Protein:NP_039254, RefSeq Protein:NP_039255, RefSeq Protein:NP_039256, RefSeq Protein:NP_039258, RefSeq RNA:NM_001159995, RefSeq RNA:NM_001159996, RefSeq RNA:NM_001159999, RefSeq RNA:NM_001160001, RefSeq RNA:NM_001160002, RefSeq RNA:NM_001160004, RefSeq RNA:NM_001160005, RefSeq RNA:NM_001160007, RefSeq RNA:NM_001160008, RefSeq RNA:NM_004495, RefSeq RNA:NM_013956, RefSeq RNA:NM_013957, RefSeq RNA:NM_013958, RefSeq RNA:NM_013959, RefSeq RNA:NM_013960, RefSeq RNA:NM_013961, RefSeq RNA:NM_013962, RefSeq RNA:NM_013964, UCSC Genome Browser:NM_004495, UniProtKB:A6MW55, UniProtKB:A6MW56, UniProtKB:B0FYA7, UniProtKB:B0FYA9, UniProtKB:B7Z1D7, UniProtKB:B7Z4Z3, UniProtKB:Q02297, UniProtKB:Q6PK61, UniProtKB:Q7RTW3, UniProtKB:Q7RTW5 No chr8 31496820 32622558 31639222 32771716 +PA31777 9542 HGNC:7998 ENSG00000158458 neuregulin 2 NRG2 divergent of neuregulin-1, neural- and thymus-derived activator for ErbB kinases Don-1, HRG2, NTAK Yes No Comparative Toxicogenomics Database:9542, Ensembl:ENSG00000158458, GenAtlas:NRG2, GeneCard:NRG2, HGNC:HGNC:7998, HumanCyc Gene:HS08292, ModBase:O14511, NCBI Gene:9542, OMIM:603818, RefSeq DNA:NT_029289, RefSeq Protein:NP_001171864, RefSeq Protein:NP_004874, RefSeq Protein:NP_053584, RefSeq Protein:NP_053585, RefSeq Protein:NP_053586, RefSeq RNA:NM_001184935, RefSeq RNA:NM_004883, RefSeq RNA:NM_013981, RefSeq RNA:NM_013982, RefSeq RNA:NM_013983, UCSC Genome Browser:NM_004883, UniProtKB:O14511 No chr5 139226364 139422884 139846779 140043675 +PA31778 10718 HGNC:7999 ENSG00000185737 neuregulin 3 NRG3 Yes Yes Ensembl:ENSG00000185737, GenAtlas:NRG3, GeneCard:NRG3, HGNC:HGNC:7999, ModBase:P56975, NCBI Gene:10718, OMIM:605533, RefSeq DNA:NG_013373, RefSeq DNA:NT_030059, RefSeq Protein:NP_001010848, RefSeq Protein:NP_001159444, RefSeq Protein:NP_001159445, RefSeq RNA:NM_001010848, RefSeq RNA:NM_001165972, RefSeq RNA:NM_001165973, UniProtKB:B3KVG8, UniProtKB:B9EGV5, UniProtKB:P56975 No chr10 83635070 84746935 81875298 82989979 +PA134992709 101929590 HGNC:31429 ENSG00000225738 NRG3 antisense RNA 1 NRG3-AS1 Em:AC010157.1 Yes No Ensembl:ENSG00000225738, GeneCard:C10orf100, HGNC:HGNC:31429, NCBI Gene:101929590 No chr10 83985163 83992390 82229014 82232920 +PA142671246 145957 HGNC:29862 ENSG00000169752 neuregulin 4 NRG4 HRG4 Yes No Comparative Toxicogenomics Database:145957, Ensembl:ENSG00000169752, GeneCard:NRG4, HGNC:HGNC:29862, HumanCyc Gene:HS15810, ModBase:Q8WWG1, NCBI Gene:145957, OMIM:610894, RefSeq DNA:NT_010194, RefSeq Protein:NP_612640, RefSeq RNA:NM_138573, UniProtKB:Q8WWG1 No chr15 76234314 76304785 75935190 76062997 +PA31779 4900 HGNC:8000 ENSG00000154146 neurogranin NRGN neurogranin (protein kinase C substrate, RC3) RC3 Yes No Comparative Toxicogenomics Database:4900, Ensembl:ENSG00000154146, GenAtlas:NRGN, GeneCard:NRGN, HGNC:HGNC:8000, HumanCyc Gene:HS07954, ModBase:Q92686, NCBI Gene:4900, OMIM:602350, RefSeq DNA:NT_033899, RefSeq Protein:NP_001119653, RefSeq Protein:NP_006167, RefSeq RNA:NM_001126181, RefSeq RNA:NM_006176, UCSC Genome Browser:NM_006176, UniProtKB:Q92686 No chr11 124609829 124617102 124739933 124747206 +PA31780 8204 HGNC:8001 ENSG00000180530 nuclear receptor interacting protein 1 NRIP1 nuclear factor RIP140, receptor interacting protein 140 RIP140 Yes No Comparative Toxicogenomics Database:8204, Ensembl:ENSG00000180530, GenAtlas:NRIP1, GeneCard:NRIP1, HGNC:HGNC:8001, HumanCyc Gene:HS11503, ModBase:P48552, NCBI Gene:8204, OMIM:602490, RefSeq DNA:NT_011512, RefSeq Protein:NP_003480, RefSeq RNA:NM_003489, UCSC Genome Browser:NM_003489, UniProtKB:A8K171, UniProtKB:P48552 No chr21 16333556 16438224 14961235 15065903 +PA134978127 83714 HGNC:23078 ENSG00000053702 nuclear receptor interacting protein 2 NRIP2 DKFZP761G1913 Yes No Comparative Toxicogenomics Database:83714, Ensembl:ENSG00000053702, GeneCard:NRIP2, HGNC:HGNC:23078, HumanCyc Gene:HS00659, NCBI Gene:83714, RefSeq DNA:NT_009759, RefSeq Protein:NP_113662, RefSeq RNA:NM_031474, UniProtKB:A2RRE3, UniProtKB:Q9BQI9 No chr12 2934514 2944372 2825348 2835536 +PA25481 56675 HGNC:1167 ENSG00000175352 nuclear receptor interacting protein 3 NRIP3 C11orf14 Yes No Comparative Toxicogenomics Database:56675, Ensembl:ENSG00000175352, GeneCard:NRIP3, HGNC:HGNC:1167, HumanCyc Gene:HS10918, ModBase:Q9NQ35, NCBI Gene:56675, OMIM:613125, RefSeq DNA:NT_009237, RefSeq Protein:NP_065696, RefSeq RNA:NM_020645, UCSC Genome Browser:NM_020645, UniProtKB:Q9NQ35 No chr11 9002123 9025596 8980576 9004049 +PA134869113 203447 HGNC:25391 ENSG00000123572 Nik related kinase NRK DKFZp686A17109 Yes No Ensembl:ENSG00000123572, GeneCard:NRK, HGNC:HGNC:25391, ModBase:Q7Z2Y5, NCBI Gene:203447, OMIM:300791, RefSeq DNA:NG_021425, RefSeq DNA:NT_011651, RefSeq Protein:NP_940867, RefSeq RNA:NM_198465, UniProtKB:Q7Z2Y5 No chrX 105066536 105202602 105821944 105958610 +PA31781 4901 HGNC:8002 ENSG00000129535 neural retina leucine zipper NRL Maf-family bZIP transcription factor NRL D14S46E, NRL-MAF, RP27 Yes No Comparative Toxicogenomics Database:4901, Ensembl:ENSG00000129535, GenAtlas:NRL, GeneCard:NRL, HGNC:HGNC:8002, HumanCyc Gene:HS05291, ModBase:P54845, NCBI Gene:4901, OMIM:162080, RefSeq DNA:NG_011697, RefSeq DNA:NT_026437, RefSeq Protein:NP_006168, RefSeq RNA:NM_006177, UCSC Genome Browser:NM_006177, UniProtKB:P54845, UniProtKB:Q53XD0 No chr14 24547902 24584223 24078693 24114924 +PA31782 11270 HGNC:8003 ENSG00000137404, ENSG00000206484, ENSG00000228854, ENSG00000228867, ENSG00000234809, ENSG00000235773, ENSG00000236843 nurim NRM nurim (nuclear envelope membrane protein) NRM29 Yes No Comparative Toxicogenomics Database:11270, Ensembl:ENSG00000137404, Ensembl:ENSG00000206484, Ensembl:ENSG00000228854, Ensembl:ENSG00000228867, Ensembl:ENSG00000234809, Ensembl:ENSG00000235773, Ensembl:ENSG00000236843, GenAtlas:NRM, GeneCard:NRM, HGNC:HGNC:8003, HumanCyc Gene:HS06338, ModBase:Q8IXM6, NCBI Gene:11270, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_009174, RefSeq RNA:NM_007243, UCSC Genome Browser:NM_007243, UniProtKB:B0S7R0, UniProtKB:Q8IXM6 No chr6 30655824 30659197 30688047 30691420 +PA38477 51299 HGNC:17972 ENSG00000124785 neuritin 1 NRN1 NRN Yes No Ensembl:ENSG00000124785, GenAtlas:NRN1, GeneCard:NRN1, HGNC:HGNC:17972, HumanCyc Gene:HS13145, NCBI Gene:51299, OMIM:607409, RefSeq DNA:NT_007592, RefSeq Protein:NP_057672, RefSeq RNA:NM_016588, UCSC Genome Browser:NM_016588, UniProtKB:Q9NPD7 No chr6 5998232 6007838 5997999 6007605 +PA162398187 123904 HGNC:29811 ENSG00000188038 neuritin 1 like NRN1L neuritin 1-like MRCC2446, UNQ2446 Yes No Ensembl:ENSG00000188038, GeneCard:NRN1L, HGNC:HGNC:29811, ModBase:Q496H8, NCBI Gene:123904, RefSeq DNA:NT_010498, RefSeq Protein:NP_940845, RefSeq RNA:NM_198443, UniProtKB:Q496H8 No chr16 67918781 67920271 67884878 67886368 +PA164747531 641373 HGNC:37079 ENSG00000253079 non-protein coding RNA, repressor of NFAT NRON non-protein coding RNA 194, noncoding repressor of NFAT NCRNA00194 Yes No Ensembl:ENSG00000253079, GeneCard:NRON, HGNC:HGNC:37079, NCBI Gene:641373, OMIM:609618 No chr9 129170054 129172783 126407775 126410504 +PA31783 8829 HGNC:8004 ENSG00000099250 neuropilin 1 NRP1 CD304, NRP, VEGF165R Yes Yes Comparative Toxicogenomics Database:8829, Ensembl:ENSG00000099250, GenAtlas:NRP1, GeneCard:NRP1, HGNC:HGNC:8004, HumanCyc Gene:HS01882, ModBase:O14786, NCBI Gene:8829, OMIM:602069, RefSeq DNA:NT_008705, RefSeq Protein:NP_001019799, RefSeq Protein:NP_001019800, RefSeq Protein:NP_003864, RefSeq RNA:NM_001024628, RefSeq RNA:NM_001024629, RefSeq RNA:NM_003873, UCSC Genome Browser:NM_003873, UniProtKB:O14786, UniProtKB:Q59F20, UniProtKB:Q68DN3, UniProtKB:Q6AWA9, UniProtKB:Q96I90 No chr10 33466419 33623833 33177491 33334905 +PA31784 8828 HGNC:8005 ENSG00000118257 neuropilin 2 NRP2 VEGF165R2 Yes Yes Comparative Toxicogenomics Database:8828, Ensembl:ENSG00000118257, GenAtlas:NRP2, GeneCard:NRP2, HGNC:HGNC:8005, HumanCyc Gene:HS04205, ModBase:O60462, NCBI Gene:8828, OMIM:602070, RefSeq DNA:NT_005403, RefSeq Protein:NP_003863, RefSeq Protein:NP_061004, RefSeq Protein:NP_957716, RefSeq Protein:NP_957718, RefSeq Protein:NP_957719, RefSeq Protein:NP_958436, RefSeq RNA:NM_003872, RefSeq RNA:NM_018534, RefSeq RNA:NM_201264, RefSeq RNA:NM_201266, RefSeq RNA:NM_201267, RefSeq RNA:NM_201279, UCSC Genome Browser:NM_003872, UniProtKB:O60462, UniProtKB:Q7LBX6, UniProtKB:Q7LBX7, UniProtKB:Q7Z3T9, UniProtKB:Q9H2D4, UniProtKB:Q9H2D5, UniProtKB:Q9H2E2, UniProtKB:Q9H2E3, UniProtKB:Q9H2E4 No chr2 206547184 206662857 205682450 205798133 +PA142671521 375387 HGNC:24613 ENSG00000174004 negative regulator of reactive oxygen species NRROS glycoprotein A repetitions predominant like 1, leucine rich repeat containing 33 ELLP3030, GARPL1, LRRC33, MGC50789, UNQ3030 Yes No Comparative Toxicogenomics Database:375387, Ensembl:ENSG00000174004, GeneCard:LRRC33, HGNC:HGNC:24613, ModBase:Q86YC3, NCBI Gene:375387, RefSeq DNA:NT_029928, RefSeq Protein:NP_940967, RefSeq RNA:NM_198565, UniProtKB:Q86YC3 No chr3 196366656 196388875 196639696 196662004 +PA38254 140767 HGNC:17881 ENSG00000152954 neurensin 1 NRSN1 VMP, p24 Yes No Comparative Toxicogenomics Database:140767, Ensembl:ENSG00000152954, GenAtlas:NRSN1, GeneCard:NRSN1, HGNC:HGNC:17881, HumanCyc Gene:HS14450, NCBI Gene:140767, RefSeq DNA:NT_007592, RefSeq Protein:NP_542454, RefSeq RNA:NM_080723, UCSC Genome Browser:NM_080723, UniProtKB:Q8IZ57 No chr6 24126414 24147757 24126186 24147529 +PA25805 80023 HGNC:16229 ENSG00000125841 neurensin 2 NRSN2 C20orf98, dJ1103G7.6 Yes No Ensembl:ENSG00000125841, GenAtlas:NRSN2, GeneCard:NRSN2, HGNC:HGNC:16229, HumanCyc Gene:HS04951, NCBI Gene:80023, OMIM:610666, RefSeq DNA:NT_011387, RefSeq Protein:NP_079234, RefSeq RNA:NM_024958, UCSC Genome Browser:NM_024958, UniProtKB:Q9GZP1 No chr20 326789 335512 346726 359705 +PA31785 4902 HGNC:8007 ENSG00000171119 neurturin NRTN prepro-neurturin NTN Yes No Comparative Toxicogenomics Database:4902, Ensembl:ENSG00000171119, GenAtlas:NRTN, GeneCard:NRTN, HGNC:HGNC:8007, HumanCyc Gene:HS10247, ModBase:Q99748, NCBI Gene:4902, OMIM:142623, OMIM:602018, RefSeq DNA:NG_008202, RefSeq DNA:NT_011255, RefSeq Protein:NP_004549, RefSeq RNA:NM_004558, UCSC Genome Browser:NM_004558, UniProtKB:Q99748 No chr19 5823818 5828335 5805387 5828324 +PA31786 9378 HGNC:8008 ENSG00000179915 neurexin 1 NRXN1 Hs.22998, KIAA0578 Yes Yes Comparative Toxicogenomics Database:9378, Ensembl:ENSG00000179915, GenAtlas:NRXN1, GeneCard:NRXN1, HGNC:HGNC:8008, HumanCyc Gene:HS11428, ModBase:P58400, ModBase:Q9UDM6, NCBI Gene:9378, OMIM:209850, OMIM:600565, RefSeq DNA:NG_011878, RefSeq DNA:NT_022184, RefSeq Protein:NP_001129131, RefSeq Protein:NP_004792, RefSeq Protein:NP_620072, RefSeq RNA:NM_001135659, RefSeq RNA:NM_004801, RefSeq RNA:NM_138735, UCSC Genome Browser:NM_004801, UniProtKB:A4FVB9, UniProtKB:A7E294, UniProtKB:A7KRL9, UniProtKB:Q49A31, UniProtKB:Q9ULB1 No chr2 50145643 51259674 49918503 51032536 +PA31787 9379 HGNC:8009 ENSG00000110076 neurexin 2 NRXN2 neurexin II Yes No Comparative Toxicogenomics Database:9379, Ensembl:ENSG00000110076, GenAtlas:NRXN2, GeneCard:NRXN2, HGNC:HGNC:8009, HumanCyc Gene:HS03283, ModBase:P58401, ModBase:Q9P2S2, NCBI Gene:9379, OMIM:600566, RefSeq DNA:NT_167190, RefSeq Protein:NP_055895, RefSeq Protein:NP_620060, RefSeq Protein:NP_620063, RefSeq RNA:NM_015080, RefSeq RNA:NM_138732, RefSeq RNA:NM_138734, UCSC Genome Browser:NM_015080, UniProtKB:P58401, UniProtKB:Q9P2S2 No chr11 64373646 64490660 64606174 64723188 +PA31788 9369 HGNC:8010 ENSG00000021645 neurexin 3 NRXN3 C14orf60, KIAA0743 Yes No Ensembl:ENSG00000021645, GenAtlas:NRXN3, GeneCard:NRXN3, HGNC:HGNC:8010, HumanCyc Gene:HS00413, NCBI Gene:9369, OMIM:600567, RefSeq DNA:NT_026437, RefSeq Protein:NP_001098720, RefSeq Protein:NP_004787, RefSeq Protein:NP_620426, RefSeq RNA:NM_001105250, RefSeq RNA:NM_004796, RefSeq RNA:NM_138970, UCSC Genome Browser:NM_004796, UniProtKB:A5PKW8, UniProtKB:Q9HDB5, UniProtKB:Q9Y4C0 No chr14 78636716 80334633 77979904 79868290 +PA165660390 10412 HGNC:30728 ENSG00000164346 NSA2 ribosome biogenesis factor NSA2 """NSA2 ribosome biogenesis homolog (S. cerevisiae)"", ""NSA2, ribosome biogenesis homolog"", ""TGF beta-inducible nuclear protein 1"", ""hairy cell leukemia protein 1""" FLJ94393, HCLG1, HUSSY-29, TINP1 Yes No Ensembl:ENSG00000164346, GeneCard:NSA2, HGNC:HGNC:30728, HumanCyc Gene:HS09068, NCBI Gene:10412, OMIM:612497, RefSeq DNA:NT_006713, RefSeq Protein:NP_055701, RefSeq RNA:NM_014886, UniProtKB:O95478, UniProtKB:Q5J7U2 No chr5 74062816 74072737 74765429 74776912 +PA31790 64324 HGNC:14234 ENSG00000165671 nuclear receptor binding SET domain protein 1 NSD1 histone-lysine N-methyltransferase, H3 lysine-36 specific ARA267, FLJ22263, KMT3B, STO Yes No Comparative Toxicogenomics Database:64324, Ensembl:ENSG00000165671, GenAtlas:NSD1, GeneCard:NSD1, HGNC:HGNC:14234, HumanCyc Gene:HS09264, ModBase:Q96L73, NCBI Gene:64324, OMIM:117550, OMIM:130650, OMIM:277590, OMIM:601626, OMIM:606681, RefSeq DNA:NG_009821, RefSeq DNA:NT_023133, RefSeq Protein:NP_071900, RefSeq Protein:NP_758859, RefSeq RNA:NM_022455, RefSeq RNA:NM_172349, UCSC Genome Browser:NM_022455, UniProtKB:Q96L73, UniProtKB:Q96MN8 No chr5 176560026 176727214 177133079 177300213 +PA37369 7468 HGNC:12766 ENSG00000109685 nuclear receptor binding SET domain protein 2 NSD2 Wolf-Hirschhorn syndrome candidate 1, multiple myeloma SET domain containing protein KMT3G, MMSET, NSD2, WHSC1 Yes No Comparative Toxicogenomics Database:7468, Ensembl:ENSG00000109685, GenAtlas:WHSC1, GeneCard:WHSC1, HGNC:HGNC:12766, HumanCyc Gene:HS03249, ModBase:Q9UI92, NCBI Gene:7468, OMIM:194190, OMIM:602952, RefSeq DNA:NG_009269, RefSeq DNA:NT_006051, RefSeq Protein:NP_001035889, RefSeq Protein:NP_015627, RefSeq Protein:NP_579877, RefSeq Protein:NP_579878, RefSeq Protein:NP_579889, RefSeq Protein:NP_579890, RefSeq RNA:NM_001042424, RefSeq RNA:NM_007331, RefSeq RNA:NM_133330, RefSeq RNA:NM_133331, RefSeq RNA:NM_133334, RefSeq RNA:NM_133335, UCSC Genome Browser:NM_007331, UniProtKB:O96028 No chr4 1873123 1983934 1871357 1982207 +PA37370 54904 HGNC:12767 ENSG00000147548 nuclear receptor binding SET domain protein 3 NSD3 Wolf-Hirschhorn syndrome candidate 1-like 1 FLJ20353, KMT3F, NSD3, WHISTLE, WHSC1L1 Yes No Comparative Toxicogenomics Database:54904, Ensembl:ENSG00000147548, GenAtlas:WHSC1L1, GeneCard:WHSC1L1, HGNC:HGNC:12767, HumanCyc Gene:HS07446, ModBase:Q9NXA6, NCBI Gene:54904, OMIM:601626, OMIM:607083, RefSeq DNA:NG_023292, RefSeq DNA:NT_167187, RefSeq Protein:NP_060248, RefSeq Protein:NP_075447, RefSeq RNA:NM_017778, RefSeq RNA:NM_023034, UCSC Genome Browser:NM_017778, UniProtKB:Q5T0T0, UniProtKB:Q9BZ95 No chr8 38127217 38239872 38275042 38382272 +PA134959020 50814 HGNC:13398 ENSG00000147383 NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL NSDHL """3-beta-hydroxysteroid dehydrogenase"", ""3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)"", ""NAD(P) dependent steroid dehydrogenase-like"", ""short chain dehydrogenase/reductase family 31E, member 1""" H105e3, SDR31E1, XAP104 Yes No Comparative Toxicogenomics Database:50814, Ensembl:ENSG00000147383, GeneCard:NSDHL, HGNC:HGNC:13398, HumanCyc Gene:HS07423, ModBase:Q15738, NCBI Gene:50814, OMIM:300275, OMIM:308050, RefSeq DNA:NG_009163, RefSeq DNA:NT_167198, RefSeq Protein:NP_001123237, RefSeq Protein:NP_057006, RefSeq RNA:NM_001129765, RefSeq RNA:NM_015922, UniProtKB:Q15738 No chrX 151999511 152037907 152830967 152869363 +PA31793 4905 HGNC:8016 ENSG00000073969 N-ethylmaleimide sensitive factor, vesicle fusing ATPase NSF N-ethylmaleimide-sensitive factor, N-ethylmaleimide-sensitive factor-like protein SEC18, SKD2 Yes No Comparative Toxicogenomics Database:4905, Ensembl:ENSG00000073969, GenAtlas:NSF, GeneCard:NSF, HGNC:HGNC:8016, HumanCyc Gene:HS01124, ModBase:P46459, NCBI Gene:4905, OMIM:601633, RefSeq DNA:NT_010783, RefSeq DNA:NT_167251, RefSeq Protein:NP_006169, RefSeq RNA:NM_006178, RefSeq RNA:NR_040116, UCSC Genome Browser:NM_006178, UniProtKB:P46459, UniProtKB:Q96D47 No chr17 44668035 44834830 46590669 46757464 +PA31794 55968 HGNC:15912 ENSG00000088833 NSFL1 cofactor NSFL1C NSFL1 (p97) cofactor (p47), SHP1 homolog (S. cerevisiae), UBX domain protein 2C UBX1, UBXD10, UBXN2C, dJ776F14.1, p47 Yes No Comparative Toxicogenomics Database:55968, Ensembl:ENSG00000088833, GenAtlas:NSFL1C, GeneCard:NSFL1C, HGNC:HGNC:15912, ModBase:Q9UNZ2, NCBI Gene:55968, OMIM:606610, RefSeq DNA:NT_011387, RefSeq Protein:NP_001193665, RefSeq Protein:NP_057227, RefSeq Protein:NP_061327, RefSeq Protein:NP_872289, RefSeq RNA:NM_001206736, RefSeq RNA:NM_016143, RefSeq RNA:NM_018839, RefSeq RNA:NM_182483, RefSeq RNA:NR_038164, UCSC Genome Browser:NM_016143, UCSC Genome Browser:NM_018839, UniProtKB:A2A2L1, UniProtKB:Q53FE8, UniProtKB:Q9UNZ2 No chr20 1422807 1448345 1442162 1467720 +PA166181587 27065 HGNC:18790 ENSG00000168824 neuronal vesicle trafficking associated 1 NSG1 DNA segment on chromosome 4 (unique) 234 expressed sequence, neuron specific gene family member 1, neuron-enriched endosomal protein of 21 kD D4S234E, NEEP21, P21 Yes No Ensembl:ENSG00000168824, HGNC:HGNC:18790, NCBI Gene:27065 No 0 0 0 0 +PA166181588 51617 HGNC:24955 ENSG00000170091 neuronal vesicle trafficking associated 2 NSG2 calcyon family member 3 CALY3, HMP19, Nsg2 Yes No Ensembl:ENSG00000170091, HGNC:HGNC:24955, NCBI Gene:51617 No 0 0 0 0 +PA162398188 25936 HGNC:24548 ENSG00000117697 NSL1 component of MIS12 kinetochore complex NSL1 """NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"", ""NSL1, MIS12 kinetochore complex component""" C1orf48, DC8, DKFZP566O1646, MIS14 Yes No Ensembl:ENSG00000117697, GeneCard:NSL1, HGNC:HGNC:24548, HumanCyc Gene:HS04167, ModBase:Q96IY1, NCBI Gene:25936, OMIM:609174, RefSeq DNA:NT_167186, RefSeq Protein:NP_001036014, RefSeq Protein:NP_056286, RefSeq RNA:NM_001042549, RefSeq RNA:NM_015471, UniProtKB:Q53FM2, UniProtKB:Q96IY1 No chr1 212899495 212965139 212726153 212798900 +PA31795 8439 HGNC:8017 ENSG00000035681 neutral sphingomyelinase activation associated factor NSMAF neutral sphingomyelinase (N-SMase) activation associated factor FAN, GRAMD5 Yes No Comparative Toxicogenomics Database:8439, Ensembl:ENSG00000035681, GenAtlas:NSMAF, GeneCard:NSMAF, HGNC:HGNC:8017, HumanCyc Gene:HS00509, ModBase:Q92636, NCBI Gene:8439, OMIM:603043, RefSeq DNA:NT_008183, RefSeq Protein:NP_001138244, RefSeq Protein:NP_003571, RefSeq RNA:NM_001144772, RefSeq RNA:NM_003580, UCSC Genome Browser:NM_003580, UniProtKB:B4DFB0, UniProtKB:Q92636 No chr8 59496063 59572404 58583504 58659845 +PA134943761 197370 HGNC:29897 ENSG00000169189 NSE1 homolog, SMC5-SMC6 complex component NSMCE1 non-SMC element 1 homolog (S. cerevisiae) NSE1 Yes No Comparative Toxicogenomics Database:197370, Ensembl:ENSG00000169189, GeneCard:NSMCE1, HGNC:HGNC:29897, HumanCyc Gene:HS09896, ModBase:Q8WV22, NCBI Gene:197370, RefSeq DNA:NT_010393, RefSeq Protein:NP_659547, RefSeq RNA:NM_145080, UniProtKB:Q8WV22 No chr16 27236315 27280113 27224994 27268810 +PA142672355 286053 HGNC:26513 ENSG00000156831 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase NSMCE2 """non-SMC element 2, MMS21 homolog (S. cerevisiae)"", ""zinc finger, MIZ-type containing 7""" C8orf36, FLJ32440, MMS21, NSE2, ZMIZ7 Yes No Ensembl:ENSG00000156831, GeneCard:NSMCE2, HGNC:HGNC:26513, HumanCyc Gene:HS14636, ModBase:Q96MF7, NCBI Gene:286053, RefSeq DNA:NT_008046, RefSeq Protein:NP_775956, RefSeq RNA:NM_173685, UniProtKB:Q96MF7 No chr8 126104083 126379367 125091818 125367125 +PA31480 56160 HGNC:7677 ENSG00000185115 NSE3 homolog, SMC5-SMC6 complex component NSMCE3 necdin-like 2 HCA4, MAGEG1, MAGEL3, NDNL2, NSE3, NSMCE3 Yes No Ensembl:ENSG00000185115, GenAtlas:NDNL2, GeneCard:NDNL2, HGNC:HGNC:7677, ModBase:Q96MG7, NCBI Gene:56160, OMIM:608243, RefSeq DNA:NT_010194, RefSeq Protein:NP_619649, RefSeq RNA:NM_138704, UCSC Genome Browser:NM_138704, UniProtKB:Q96MG7 No chr15 29560353 29562020 29268149 29269816 +PA162398205 54780 HGNC:25935 ENSG00000107672 NSE4 homolog A, SMC5-SMC6 complex component NSMCE4A non-SMC element 4 homolog A (S. cerevisiae) C10orf86, FLJ20003, NSE4A, bA500G22.3 Yes No Ensembl:ENSG00000107672, GeneCard:NSMCE4A, HGNC:HGNC:25935, HumanCyc Gene:HS12656, NCBI Gene:54780, OMIM:612987, RefSeq DNA:NT_030059, RefSeq Protein:NP_001161337, RefSeq Protein:NP_060085, RefSeq RNA:NM_001167865, RefSeq RNA:NM_017615, UniProtKB:Q9NXX6 No chr10 123716603 123734743 121957088 121975228 +PA134917144 26012 HGNC:29843 ENSG00000165802 NMDA receptor synaptonuclear signaling and neuronal migration factor NSMF NELF Yes No Comparative Toxicogenomics Database:26012, Ensembl:ENSG00000165802, GeneCard:NELF, HGNC:HGNC:29843, HumanCyc Gene:HS15366, NCBI Gene:26012, OMIM:146110, OMIM:608137, RefSeq DNA:NG_021362, RefSeq DNA:NT_024000, RefSeq Protein:NP_001124441, RefSeq Protein:NP_001124442, RefSeq Protein:NP_001124443, RefSeq Protein:NP_001171535, RefSeq Protein:NP_056352, RefSeq RNA:NM_001130969, RefSeq RNA:NM_001130970, RefSeq RNA:NM_001130971, RefSeq RNA:NM_001178064, RefSeq RNA:NM_015537, UniProtKB:Q2TB96, UniProtKB:Q6X4W1 No chr9 140342022 140353808 137447570 137459357 +PA142672171 84081 HGNC:25305 ENSG00000126653 nuclear speckle splicing regulatory protein 1 NSRP1 CCDC55, DKFZP434K1421, NSrp70 Yes No Ensembl:ENSG00000126653, GeneCard:CCDC55, HGNC:HGNC:25305, HumanCyc Gene:HS13210, ModBase:Q9H0G5, NCBI Gene:84081, RefSeq DNA:NT_010799, RefSeq Protein:NP_115517, RefSeq RNA:NM_032141, UniProtKB:Q9H0G5 No chr17 28443821 28513493 30115526 30186475 +PA134953940 54888 HGNC:25994 ENSG00000037474 NOP2/Sun RNA methyltransferase 2 NSUN2 """Myc-induced SUN-domain-containing protein"", ""NOP2/Sun RNA methyltransferase family member 2"", ""NOP2/Sun RNA methyltransferase family, member 2"", ""RNA cytosine C(5)-methyltransferase NSUN2"", ""tRNA methyltransferase 4 homolog (S. cerevisiae)""" FLJ20303, MRT5, Misu, SAKI, TRM4 Yes No Comparative Toxicogenomics Database:54888, Ensembl:ENSG00000037474, GeneCard:NSUN2, HGNC:HGNC:25994, HumanCyc Gene:HS12087, ModBase:Q08J23, NCBI Gene:54888, OMIM:610916, RefSeq DNA:NT_006576, RefSeq Protein:NP_001180384, RefSeq Protein:NP_060225, RefSeq RNA:NM_001193455, RefSeq RNA:NM_017755, RefSeq RNA:NR_037947, UniProtKB:B3KP09, UniProtKB:Q08J23 No chr5 6599352 6633473 6599239 6633360 +PA134961151 63899 HGNC:26208 ENSG00000178694 NOP2/Sun RNA methyltransferase 3 NSUN3 """NOP2/Sun RNA methyltransferase family member 3"", ""NOP2/Sun domain family, member 3"", ""tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial""" FLJ22609 Yes Yes Ensembl:ENSG00000178694, GeneCard:NSUN3, HGNC:HGNC:26208, HumanCyc Gene:HS17107, ModBase:Q9H649, NCBI Gene:63899, RefSeq DNA:NT_005612, RefSeq Protein:NP_071355, RefSeq RNA:NM_022072, UniProtKB:Q9H649 No chr3 93781855 93845630 94063011 94126786 +PA134953046 387338 HGNC:31802 ENSG00000117481 NOP2/Sun RNA methyltransferase 4 NSUN4 """NOP2/Sun RNA methyltransferase family member 4"", ""NOP2/Sun domain family, member 4"", ""sperm head and tail associated protein""" MGC22960, SHTAP Yes No Ensembl:ENSG00000117481, GeneCard:NSUN4, HGNC:HGNC:31802, ModBase:Q96CB9, NCBI Gene:387338, RefSeq DNA:NT_032977, RefSeq Protein:NP_950245, RefSeq RNA:NM_199044, UniProtKB:Q96CB9 No chr1 46805849 46830824 46340177 46365152 +PA134993779 55695 HGNC:16385 ENSG00000130305 NOP2/Sun RNA methyltransferase 5 NSUN5 """NOP2/Sun RNA methyltransferase family member 5"", ""NOP2/Sun domain family, member 5"", ""NOP2/Sun domain family, member 5A""" (NOL1), FLJ10267, NOL1R, NSUN5A, WBSCR20, WBSCR20A, Ynl022cL, p120, p120(NOL1) Yes No Comparative Toxicogenomics Database:55695, Ensembl:ENSG00000130305, GeneCard:NSUN5, HGNC:HGNC:16385, HumanCyc Gene:HS13327, ModBase:Q96P11, NCBI Gene:55695, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001161819, RefSeq Protein:NP_001161820, RefSeq Protein:NP_060514, RefSeq Protein:NP_683759, RefSeq RNA:NM_001168347, RefSeq RNA:NM_001168348, RefSeq RNA:NM_018044, RefSeq RNA:NM_148956, UniProtKB:B3KX04, UniProtKB:B4DP79, UniProtKB:Q96P11 No chr7 72716513 72722864 73302516 73308867 +PA143485559 155400 HGNC:19146 ENSG00000223705 NOP2/Sun domain family, member 5 pseudogene 1 NSUN5P1 Williams Beuren syndrome chromosome region 20B WBSCR20B Yes No Ensembl:ENSG00000223705, HGNC:HGNC:19146, NCBI Gene:155400, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001034664, RefSeq Protein:NP_001034665, RefSeq Protein:NP_663620, RefSeq RNA:NM_001039575, RefSeq RNA:NM_001039576, RefSeq RNA:NM_145645, RefSeq RNA:NR_033322, UniProtKB:Q3KNT7 No chr7 75039605 75046071 75410322 75416792 +PA143485560 260294 HGNC:16609 ENSG00000106133 NOP2/Sun domain family, member 5 pseudogene 2 NSUN5P2 Williams Beuren syndrome chromosome region 20C DKFZp434K058, FLJ11626, MGC15057, NOL1R2, WBSCR20B, WBSCR20C Yes No Ensembl:ENSG00000106133, HGNC:HGNC:16609, ModBase:Q63ZY6, NCBI Gene:260294, RefSeq DNA:NT_007758, RefSeq DNA:NT_079593, RefSeq Protein:NP_001034576, RefSeq Protein:NP_115534, RefSeq Protein:NP_683738, RefSeq RNA:NM_001039487, RefSeq RNA:NM_032158, RefSeq RNA:NM_148936, RefSeq RNA:NR_033323, UniProtKB:Q63ZY6 No chr7 72418832 72425302 72948293 72954763 +PA134986220 221078 HGNC:23529 ENSG00000241058 NOP2/Sun RNA methyltransferase 6 NSUN6 """NOP2/Sun RNA methyltransferase family member 6"", ""NOP2/Sun domain family, member 6""" ARL5B-AS1, FLJ23743, NOPD1 Yes No Comparative Toxicogenomics Database:221078, Ensembl:ENSG00000241058, GeneCard:NSUN6, HGNC:HGNC:23529, ModBase:Q8TEA1, NCBI Gene:221078, RefSeq DNA:NT_008705, RefSeq Protein:NP_872349, RefSeq RNA:NM_182543, UniProtKB:Q8TEA1 No chr10 18834264 18948180 18512582 18659264 +PA145007896 79730 HGNC:25857 ENSG00000179299 NOP2/Sun RNA methyltransferase family member 7 NSUN7 NOP2/Sun domain family, member 7 FLJ14001 Yes No Ensembl:ENSG00000179299, GeneCard:NSUN7, HGNC:HGNC:25857, HumanCyc Gene:HS12701, NCBI Gene:79730, RefSeq DNA:NT_006238, RefSeq Protein:NP_078953, RefSeq RNA:NM_024677 No chr4 40751914 40812002 40749874 40810601 +PA31798 30833 HGNC:17144 ENSG00000125458 5', 3'-nucleotidase, cytosolic NT5C DNT-1, DNT1, PN-I, UMPH2, cdN, dNT-1 Yes No Comparative Toxicogenomics Database:30833, Ensembl:ENSG00000125458, GenAtlas:NT5C, GeneCard:NT5C, HGNC:HGNC:17144, HumanCyc Gene:HS04890, ModBase:Q8TCD5, NCBI Gene:30833, OMIM:191720, RefSeq DNA:NT_010783, RefSeq Protein:NP_055410, RefSeq RNA:NM_014595, UCSC Genome Browser:NM_014595, UniProtKB:Q8TCD5 No chr17 73126320 73127890 75130225 75131965 +PA31799 84618 HGNC:17819 ENSG00000116981 5'-nucleotidase, cytosolic IA NT5C1A """AMP-specific 5'-NT"", ""cytosolic 5' nucleotidase, type 1A"", ""cytosolic 5'-nucleotidase IA""" CN-I, CN-IA, CN1, CN1A, MGC119199, MGC119201 Yes Yes Ensembl:ENSG00000116981, GenAtlas:NT5C1A, GeneCard:NT5C1A, HGNC:HGNC:17819, HumanCyc Gene:HS04074, ModBase:Q9BXI3, NCBI Gene:84618, OMIM:610525, RefSeq DNA:NT_032977, RefSeq Protein:NP_115915, RefSeq RNA:NM_032526, UCSC Genome Browser:NM_032526, UniProtKB:Q9BXI3 No chr1 40124793 40137710 39659121 39672038 +PA31800 93034 HGNC:17818 ENSG00000185013 5'-nucleotidase, cytosolic IB NT5C1B AIRP, CN-IB Yes No Ensembl:ENSG00000185013, GenAtlas:NT5C1B, GeneCard:NT5C1B, HGNC:HGNC:17818, HumanCyc Gene:HS03944, ModBase:Q96P26, NCBI Gene:93034, OMIM:610526, RefSeq DNA:NT_015926, RefSeq Protein:NP_001002006, RefSeq Protein:NP_001186015, RefSeq Protein:NP_001186016, RefSeq Protein:NP_001186017, RefSeq Protein:NP_150278, RefSeq RNA:NM_001002006, RefSeq RNA:NM_001199086, RefSeq RNA:NM_001199087, RefSeq RNA:NM_001199088, RefSeq RNA:NM_033253, UCSC Genome Browser:NM_033253, UniProtKB:B3KUK6, UniProtKB:Q96P26 No chr2 18744137 18771359 18562871 18589580 +PA31801 22978 HGNC:8022 ENSG00000076685 5'-nucleotidase, cytosolic II NT5C2 purine 5' nucleotidase GMP, NT5B, PNT5, SPG45, SPG65, cN-II Yes Yes Comparative Toxicogenomics Database:22978, Ensembl:ENSG00000076685, GenAtlas:NT5C2, GeneCard:NT5C2, HGNC:HGNC:8022, HumanCyc Gene:HS01216, ModBase:P49902, NCBI Gene:22978, OMIM:600417, RefSeq DNA:NT_030059, RefSeq Protein:NP_001127845, RefSeq Protein:NP_036361, RefSeq RNA:NM_001134373, RefSeq RNA:NM_012229, UCSC Genome Browser:NM_012229, UniProtKB:A8K6K2, UniProtKB:P49902 No chr10 104847774 104953063 103088017 103193306 +PA31802 51251 HGNC:17820 ENSG00000122643 5'-nucleotidase, cytosolic IIIA NT5C3A lupin NT5C3, P5'N-1, PN-I, POMP, PSN1, UMPH, UMPH1, cN-III, hUMP1, p36 Yes Yes Comparative Toxicogenomics Database:51251, Ensembl:ENSG00000122643, GenAtlas:NT5C3, GeneCard:NT5C3, HGNC:HGNC:17820, HumanCyc Gene:HS04585, ModBase:Q9UC44, NCBI Gene:51251, OMIM:266120, OMIM:606224, RefSeq DNA:NG_015800, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001002009, RefSeq Protein:NP_001002010, RefSeq Protein:NP_001159590, RefSeq Protein:NP_057573, RefSeq RNA:NM_001002009, RefSeq RNA:NM_001002010, RefSeq RNA:NM_001166118, RefSeq RNA:NM_016489, RefSeq RNA:NR_029372, UCSC Genome Browser:NM_016489, UniProtKB:Q9H0P0 No chr7 33053725 33102409 33014113 33062797 +PA31803 90859 HGNC:18530 ENSG00000213492 5'-nucleotidase, cytosolic IIIA pseudogene 1 NT5C3AP1 UMPH1P Yes No Ensembl:ENSG00000213492, GenAtlas:NT5C3P1, GeneCard:NT5C3P1, HGNC:HGNC:18530, NCBI Gene:90859, RefSeq DNA:NG_000948, RefSeq DNA:NT_016354 No chr4 118495644 118497341 117574489 117576186 +PA142671245 115024 HGNC:28300 ENSG00000141698 5'-nucleotidase, cytosolic IIIB NT5C3B MGC20781, NT5C3L, cN-IIIB Yes No Comparative Toxicogenomics Database:115024, Ensembl:ENSG00000141698, GeneCard:NT5C3L, HGNC:HGNC:28300, HumanCyc Gene:HS13906, ModBase:Q969T7, NCBI Gene:115024, RefSeq DNA:NT_010783, RefSeq Protein:NP_443167, RefSeq RNA:NM_052935, RefSeq RNA:NR_033464, RefSeq RNA:NR_033465 No chr17 39981334 39992523 41825082 41836276 +PA134864338 326609 HGNC:20046 ENSG00000258524 5',3'-nucleotidase, cytosolic pseudogene 1 NT5CP1 Yes No Ensembl:ENSG00000258524, GeneCard:NT5CP1, HGNC:HGNC:20046, NCBI Gene:326609, RefSeq DNA:NG_002598, RefSeq DNA:NT_026437 No chr14 74037701 74038356 73570997 73571652 +PA134986974 326611 HGNC:20047 ENSG00000258408 5',3'-nucleotidase, cytosolic pseudogene 2 NT5CP2 Yes No Ensembl:ENSG00000258408, GeneCard:NT5CP2, HGNC:HGNC:20047, NCBI Gene:326611, RefSeq DNA:NG_002599, RefSeq DNA:NT_026437 No chr14 74005679 74006536 73538975 73539832 +PA134892962 221294 HGNC:21556 ENSG00000178425 5'-nucleotidase domain containing 1 NT5DC1 MGC24302, NT5C2L1, dJ486I3.1 Yes No Ensembl:ENSG00000178425, GeneCard:NT5DC1, HGNC:HGNC:21556, HumanCyc Gene:HS12783, ModBase:Q5TFE4, NCBI Gene:221294, RefSeq DNA:NG_021351, RefSeq DNA:NT_025741, RefSeq Protein:NP_689942, RefSeq RNA:NM_152729, UniProtKB:B3KR35, UniProtKB:Q5TFE4 No chr6 116421999 116566853 116100833 116245690 +PA143485561 64943 HGNC:25717 ENSG00000168268 5'-nucleotidase domain containing 2 NT5DC2 FLJ12442 Yes No Comparative Toxicogenomics Database:64943, Ensembl:ENSG00000168268, GeneCard:NT5DC2, HGNC:HGNC:25717, HumanCyc Gene:HS15654, ModBase:Q9H857, NCBI Gene:64943, RefSeq DNA:NT_022517, RefSeq Protein:NP_001127703, RefSeq Protein:NP_075059, RefSeq RNA:NM_001134231, RefSeq RNA:NM_022908, UniProtKB:Q9H857 No chr3 52558385 52569093 52524369 52535077 +PA143485562 51559 HGNC:30826 ENSG00000111696 5'-nucleotidase domain containing 3 NT5DC3 FLJ11266, TU12B1-TY Yes No Comparative Toxicogenomics Database:51559, Ensembl:ENSG00000111696, GeneCard:NT5DC3, HGNC:HGNC:30826, HumanCyc Gene:HS12747, ModBase:Q86UY8, NCBI Gene:51559, OMIM:611076, RefSeq DNA:NT_029419, RefSeq Protein:NP_001026871, RefSeq RNA:NM_001031701, UniProtKB:Q86UY8 No chr12 104166081 104234975 103746315 103841238 +PA143485563 284958 HGNC:27678 ENSG00000144130 5'-nucleotidase domain containing 4 NT5DC4 Yes No Ensembl:ENSG00000144130, GeneCard:NT5DC4, HGNC:HGNC:27678, NCBI Gene:284958, RefSeq DNA:NT_022135, RefSeq Protein:XP_001715729, RefSeq Protein:XP_001716411, RefSeq Protein:XP_001716593, RefSeq RNA:XM_001715677, RefSeq RNA:XM_001716359, RefSeq RNA:XM_001716541 No chr2 +PA31804 4907 HGNC:8021 ENSG00000135318 5'-nucleotidase ecto NT5E 5'-nucleotidase, ecto (CD73) CALJA, CD73, NT5, eN, eNT Yes Yes Comparative Toxicogenomics Database:4907, Ensembl:ENSG00000135318, GenAtlas:NT5E, GeneCard:NT5E, HGNC:HGNC:8021, HumanCyc Gene:HS05981, ModBase:P21589, NCBI Gene:4907, OMIM:129190, RefSeq DNA:NT_007299, RefSeq Protein:NP_001191742, RefSeq Protein:NP_002517, RefSeq RNA:NM_001204813, RefSeq RNA:NM_002526, UCSC Genome Browser:NM_002526, UniProtKB:B2RBH2, UniProtKB:P21589, UniProtKB:Q6NZX3 No chr6 86159302 86205509 85449584 85495791 +PA31805 56953 HGNC:15769 ENSG00000205309 5',3'-nucleotidase, mitochondrial NT5M dNT-2, dNT2, mdN Yes No Comparative Toxicogenomics Database:56953, Ensembl:ENSG00000205309, GenAtlas:NT5M, GeneCard:NT5M, HGNC:HGNC:15769, NCBI Gene:56953, OMIM:605292, RefSeq DNA:NT_010718, RefSeq Protein:NP_064586, RefSeq RNA:NM_020201, UCSC Genome Browser:NM_020201, UniProtKB:Q9NPB1 No chr17 17206680 17250977 17303366 17347663 +PA134863573 123803 HGNC:29909 ENSG00000157045 N-terminal asparagine amidase NTAN1 Yes No Comparative Toxicogenomics Database:123803, Ensembl:ENSG00000157045, GeneCard:NTAN1, HGNC:HGNC:29909, HumanCyc Gene:HS14648, ModBase:Q96AB6, NCBI Gene:123803, RefSeq DNA:NT_010393, RefSeq Protein:NP_775745, RefSeq RNA:NM_173474, UniProtKB:Q96AB6 No chr16 15131710 15149936 15037853 15056079 +PA166351989 55093 HGNC:25490 N-terminal glutamine amidase 1 NTAQ1 C8orf32, FLJ10204, WDYHV1 Yes No HGNC:HGNC:25490, NCBI Gene:55093 No 0 0 0 0 +PA31806 4908 HGNC:8023 ENSG00000185652 neurotrophin 3 NTF3 NGF2 Yes No Comparative Toxicogenomics Database:4908, Ensembl:ENSG00000185652, GenAtlas:NTF3, GeneCard:NTF3, HGNC:HGNC:8023, ModBase:P20783, NCBI Gene:4908, OMIM:162660, RefSeq DNA:NT_009759, RefSeq Protein:NP_001096124, RefSeq Protein:NP_002518, RefSeq RNA:NM_001102654, RefSeq RNA:NM_002527, UCSC Genome Browser:NM_002527, UniProtKB:B7Z1T5, UniProtKB:P20783 No chr12 5541280 5604465 5432114 5495299 +PA162398206 4909 HGNC:8024 ENSG00000225950 neurotrophin 4 NTF4 neurotrophic factor 4 GLC1O, NT-4/5, NTF5 Yes No Ensembl:ENSG00000225950, GeneCard:NTF4, HGNC:HGNC:8024, HumanCyc Gene:HS09619, NCBI Gene:4909, OMIM:162662, OMIM:613100, RefSeq DNA:NG_000019, RefSeq DNA:NG_016289, RefSeq DNA:NT_011109, RefSeq Protein:NP_006170, RefSeq RNA:NM_006179, UniProtKB:P34130 No chr19 49564323 49568333 49058284 49065076 +PA31808 4910 HGNC:8025 ENSG00000267019 neurotrophin 6 alpha (pseudogene) NTF6A NTF5P, PSI-NT4 Yes No Ensembl:ENSG00000267019, GenAtlas:NTF6A, GeneCard:NTF6A, HGNC:HGNC:8025, NCBI Gene:4910, RefSeq DNA:NG_000019, RefSeq DNA:NT_011109, UCSC Genome Browser:NM_021084 No chr19 49528482 49529379 49025225 49026122 +PA31809 4911 HGNC:8026 ENSG00000267685 neurotrophin 6 beta (pseudogene) NTF6B Yes No Ensembl:ENSG00000267685, GenAtlas:NTF6B, GeneCard:NTF6B, HGNC:HGNC:8026, NCBI Gene:4911, RefSeq DNA:NG_000019, RefSeq DNA:NT_011109, UCSC Genome Browser:NM_021085 No chr19 49541491 49542395 49038234 49039138 +PA31810 4912 HGNC:8027 ENSG00000267099 neurotrophin 6 gamma (pseudogene) NTF6G Yes No Ensembl:ENSG00000267099, GenAtlas:NTF6G, GeneCard:NTF6G, HGNC:HGNC:8027, NCBI Gene:4912, RefSeq DNA:NG_000019, RefSeq DNA:NT_011109, UCSC Genome Browser:NM_021086 No chr19 49532948 49533842 49029691 49030585 +PA31811 4913 HGNC:8028 ENSG00000065057 nth like DNA glycosylase 1 NTHL1 nth endonuclease III-like 1 (E. coli) NTH1, OCTS3 Yes No Comparative Toxicogenomics Database:4913, Ensembl:ENSG00000065057, GenAtlas:NTHL1, GeneCard:NTHL1, HGNC:HGNC:8028, HumanCyc Gene:HS00828, ModBase:P78549, NCBI Gene:4913, OMIM:602656, RefSeq DNA:NG_008412, RefSeq DNA:NT_010393, RefSeq Protein:NP_002519, RefSeq RNA:NM_002528, UCSC Genome Browser:NM_002528, UniProtKB:P78549 No chr16 2089816 2097931 2039815 2047872 +PA164724212 50863 HGNC:17941 ENSG00000182667 neurotrimin NTM IgLON family member 2, neurotrimin CEPU-1, HNT, IGLON2, NTRI Yes No Ensembl:ENSG00000182667, GeneCard:NTM, HGNC:HGNC:17941, NCBI Gene:50863, OMIM:607938, RefSeq DNA:NT_033899, RefSeq Protein:NP_001041674, RefSeq Protein:NP_001137530, RefSeq Protein:NP_001137531, RefSeq Protein:NP_057606, RefSeq RNA:NM_001048209, RefSeq RNA:NM_001144058, RefSeq RNA:NM_001144059, RefSeq RNA:NM_016522, UniProtKB:A0MTT2, UniProtKB:Q9P121 No chr11 131240371 132206716 131370326 132336822 +PA162395788 28989 HGNC:23373 ENSG00000148335 N-terminal Xaa-Pro-Lys N-methyltransferase 1 NTMT1 AD-003, C9orf32, HOMT1A, METTL11A, NRMT, NRMT1 Yes No Ensembl:ENSG00000148335, GeneCard:METTL11A, HGNC:HGNC:23373, HumanCyc Gene:HS07515, ModBase:Q9BV86, NCBI Gene:28989, RefSeq DNA:NT_008470, RefSeq Protein:NP_054783, RefSeq RNA:NM_014064, UniProtKB:Q9BV86 No chr9 132371036 132397879 129608884 129636742 +PA166351990 149281 HGNC:31932 N-terminal Xaa-Pro-Lys N-methyltransferase 2 NTMT2 C1orf184, HOMT1B, METTL11B Yes No HGNC:HGNC:31932, NCBI Gene:149281 No 0 0 0 0 +PA31813 9423 HGNC:8029 ENSG00000065320 netrin 1 NTN1 Netrin-1 NET1, NTN1L Yes No Comparative Toxicogenomics Database:9423, Ensembl:ENSG00000065320, GenAtlas:NTN1, GeneCard:NTN1, HGNC:HGNC:8029, HumanCyc Gene:HS00836, ModBase:O95631, NCBI Gene:9423, OMIM:601614, RefSeq DNA:NT_010718, RefSeq Protein:NP_004813, RefSeq RNA:NM_004822, UCSC Genome Browser:NM_004822, UniProtKB:O95631 No chr17 8924859 9147317 9021542 9244000 +PA164724231 4917 HGNC:8030 ENSG00000162068 netrin 3 NTN3 Netrin-3 NTN2L Yes No Ensembl:ENSG00000162068, GeneCard:NTN3, HGNC:HGNC:8030, HumanCyc Gene:HS08640, ModBase:O00634, NCBI Gene:4917, OMIM:602349, RefSeq DNA:NT_010393, RefSeq Protein:NP_006172, RefSeq RNA:NM_006181, UniProtKB:O00634 No chr16 2521500 2524146 2471499 2474145 +PA31815 59277 HGNC:13658 ENSG00000074527 netrin 4 NTN4 Netrin-4, beta-netrin Yes No Comparative Toxicogenomics Database:59277, Ensembl:ENSG00000074527, GenAtlas:NTN4, GeneCard:NTN4, HGNC:HGNC:13658, HumanCyc Gene:HS01141, ModBase:Q9HB63, NCBI Gene:59277, OMIM:610401, RefSeq DNA:NT_029419, RefSeq Protein:NP_067052, RefSeq RNA:NM_021229, UCSC Genome Browser:NM_021229, UniProtKB:Q9HB63 No chr12 96051583 96184565 95657807 95790758 +PA164724232 126147 HGNC:25208 ENSG00000142233 netrin 5 NTN5 Netrin-5 Yes No Ensembl:ENSG00000142233, GeneCard:NTN5, HGNC:HGNC:25208, HumanCyc Gene:HS06913, ModBase:Q8WTR8, NCBI Gene:126147, RefSeq DNA:NT_011109, RefSeq Protein:NP_665806, RefSeq RNA:NM_145807, UniProtKB:Q8WTR8 No chr19 49164664 49176264 48661407 48673119 +PA164742200 22854 HGNC:23319 ENSG00000162631 netrin G1 NTNG1 Netrin-G1, laminet-1, netrin G1f KIAA0976, Lmnt1, NetG1, NetrinG1 Yes Yes Ensembl:ENSG00000162631, GeneCard:NTNG1, HGNC:HGNC:23319, HumanCyc Gene:HS08710, ModBase:Q9Y2I2, NCBI Gene:22854, OMIM:608818, RefSeq DNA:NT_032977, RefSeq Protein:NP_001106697, RefSeq Protein:NP_001106699, RefSeq Protein:NP_055732, RefSeq RNA:NM_001113226, RefSeq RNA:NM_001113228, RefSeq RNA:NM_014917, UniProtKB:A6NMF6, UniProtKB:Q5IEC3, UniProtKB:Q5IEC6, UniProtKB:Q5IEC8, UniProtKB:Q9Y2I2 No chr1 107682540 108024477 107139918 107484899 +PA134962540 84628 HGNC:14288 ENSG00000196358 netrin G2 NTNG2 Netrin-G2, laminet-2 KIAA1857, Lmnt2, NTNG1, NetrinG2 Yes No Ensembl:ENSG00000196358, GeneCard:NTNG2, HGNC:HGNC:14288, ModBase:Q96CW9, NCBI Gene:84628, RefSeq DNA:NT_035014, RefSeq Protein:NP_115925, RefSeq RNA:NM_032536, UniProtKB:O95898, UniProtKB:Q96CW9 No chr9 135037334 135118224 132161234 132244534 +PA142672508 84284 HGNC:28204 ENSG00000135778 nucleoside-triphosphatase, cancer-related NTPCR human cancer-related NTPase C1orf57, HCR-NTPase, MGC13186, THEP1 Yes No Ensembl:ENSG00000135778, GeneCard:C1orf57, HGNC:HGNC:28204, HumanCyc Gene:HS06064, ModBase:Q9BSD7, NCBI Gene:84284, RefSeq DNA:NT_167186, RefSeq Protein:NP_115700, RefSeq RNA:NM_032324, UniProtKB:Q5TDE9, UniProtKB:Q9BSD7 No chr1 233086277 233114548 232950624 232978473 +PA31817 4914 HGNC:8031 ENSG00000198400 neurotrophic receptor tyrosine kinase 1 NTRK1 """high affinity nerve growth factor receptor"", ""neurotrophic tyrosine kinase, receptor, type 1"", ""tropomyosin receptor kinase A""" MTC, TRK, TRKA Yes Yes Comparative Toxicogenomics Database:4914, Ensembl:ENSG00000198400, GenAtlas:NTRK1, GeneCard:NTRK1, HGNC:HGNC:8031, HumanCyc Gene:HS04087, ModBase:Q9UIU7, NCBI Gene:4914, OMIM:155240, OMIM:191315, OMIM:256800, RefSeq DNA:NG_007493, RefSeq DNA:NT_004487, RefSeq Protein:NP_001007793, RefSeq Protein:NP_001012331, RefSeq Protein:NP_002520, RefSeq RNA:NM_001007792, RefSeq RNA:NM_001012331, RefSeq RNA:NM_002529, UCSC Genome Browser:NM_002529, UniProtKB:A6NF12, UniProtKB:P04629 No chr1 156785542 156851642 156815750 156881850 +PA31818 4915 HGNC:8032 ENSG00000148053 neurotrophic receptor tyrosine kinase 2 NTRK2 """BDNF/NT-3 growth factors receptor"", ""neurotrophic tyrosine kinase, receptor, type 2""" TRKB Yes Yes Comparative Toxicogenomics Database:4915, Ensembl:ENSG00000148053, GenAtlas:NTRK2, GeneCard:NTRK2, HGNC:HGNC:8032, HumanCyc Gene:HS07487, ModBase:Q16620, NCBI Gene:4915, OMIM:600456, RefSeq DNA:NG_012201, RefSeq DNA:NT_008470, RefSeq Protein:NP_001007098, RefSeq Protein:NP_001018074, RefSeq Protein:NP_001018075, RefSeq Protein:NP_001018076, RefSeq Protein:NP_006171, RefSeq RNA:NM_001007097, RefSeq RNA:NM_001018064, RefSeq RNA:NM_001018065, RefSeq RNA:NM_001018066, RefSeq RNA:NM_006180, UCSC Genome Browser:NM_006180, UniProtKB:Q16620, UniProtKB:Q548C2, UniProtKB:Q59GJ1, UniProtKB:Q5VWE5, UniProtKB:Q8WXJ5, UniProtKB:Q8WXJ7 No chr9 87283417 87641985 84668368 85027070 +PA31819 4916 HGNC:8033 ENSG00000140538 neurotrophic receptor tyrosine kinase 3 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 TRKC Yes No Comparative Toxicogenomics Database:4916, Ensembl:ENSG00000140538, GenAtlas:NTRK3, GeneCard:NTRK3, HGNC:HGNC:8033, HumanCyc Gene:HS06735, ModBase:Q16288, NCBI Gene:4916, OMIM:191316, RefSeq DNA:NT_010274, RefSeq Protein:NP_001007157, RefSeq Protein:NP_001012338, RefSeq Protein:NP_002521, RefSeq RNA:NM_001007156, RefSeq RNA:NM_001012338, RefSeq RNA:NM_002530, UCSC Genome Browser:NM_002530, UniProtKB:Q16288, UniProtKB:Q96CY4 No chr15 88419948 88800026 87859749 88256796 +PA31820 4922 HGNC:8038 ENSG00000133636 neurotensin NTS neuromedin N, pro-neurotensin/neuromedin Yes No Comparative Toxicogenomics Database:4922, Ensembl:ENSG00000133636, GenAtlas:NTS, GeneCard:NTS, HGNC:HGNC:8038, HumanCyc Gene:HS05774, NCBI Gene:4922, OMIM:162650, RefSeq DNA:NT_029419, RefSeq Protein:NP_006174, RefSeq RNA:NM_006183, UCSC Genome Browser:NM_006183, UniProtKB:P30990, UniProtKB:Q6FH20 No chr12 86268073 86276770 85874295 85882992 +PA31821 4923 HGNC:8039 ENSG00000101188 neurotensin receptor 1 NTSR1 neurotensin receptor 1 (high affinity) NTR Yes No Comparative Toxicogenomics Database:4923, Ensembl:ENSG00000101188, GenAtlas:NTSR1, GeneCard:NTSR1, HGNC:HGNC:8039, HumanCyc Gene:HS02212, IUPHAR Receptor:309, ModBase:P30989, NCBI Gene:4923, OMIM:162651, RefSeq DNA:NT_011333, RefSeq Protein:NP_002522, RefSeq RNA:NM_002531, UCSC Genome Browser:NM_002531, UniProtKB:P30989 No chr20 61340189 61394123 62708770 62762771 +PA31822 23620 HGNC:8040 ENSG00000169006 neurotensin receptor 2 NTSR2 NTR2 Yes No Comparative Toxicogenomics Database:23620, Ensembl:ENSG00000169006, GenAtlas:NTSR2, GeneCard:NTSR2, HGNC:HGNC:8040, HumanCyc Gene:HS09863, IUPHAR Receptor:310, ModBase:O95665, NCBI Gene:23620, OMIM:605538, RefSeq DNA:NT_005334, RefSeq Protein:NP_036476, RefSeq RNA:NM_012344, UCSC Genome Browser:NM_012344, UniProtKB:O95665 No chr2 11798304 11810329 11658178 11670206 +PA142671242 9891 HGNC:14311 ENSG00000074590 NUAK family kinase 1 NUAK1 """AMP-activated protein kinase family member 5"", ""NUAK family, SNF1-like kinase, 1""" ARK5, KIAA0537, NuaK1 Yes No Comparative Toxicogenomics Database:9891, Ensembl:ENSG00000074590, GeneCard:NUAK1, HGNC:HGNC:14311, HumanCyc Gene:HS01143, ModBase:O60285, NCBI Gene:9891, OMIM:608130, RefSeq DNA:NT_029419, RefSeq Protein:NP_055655, RefSeq RNA:NM_014840, UniProtKB:O60285 No chr12 106457125 106533811 106063347 106140033 +PA142671243 81788 HGNC:29558 ENSG00000163545 NUAK family kinase 2 NUAK2 """NUAK family, SNF1-like kinase, 2"", ""SNF1/AMP activated protein kinase""" FLJ90349, SNARK Yes No Comparative Toxicogenomics Database:81788, Ensembl:ENSG00000163545, GeneCard:NUAK2, HGNC:HGNC:29558, HumanCyc Gene:HS08878, ModBase:Q9H093, NCBI Gene:81788, OMIM:608131, RefSeq DNA:NT_004487, RefSeq Protein:NP_112214, RefSeq RNA:NM_030952, UniProtKB:Q9H093 No chr1 205271191 205290883 205302059 205321791 +PA147357533 51667 HGNC:17623 ENSG00000013374 negative regulator of ubiquitin like proteins 1 NUB1 NEDD8 ultimate buster-1, negative regulator of ubiquitin-like proteins 1 BS4, NUB1L, NYREN18 Yes No Comparative Toxicogenomics Database:51667, Ensembl:ENSG00000013374, GeneCard:NUB1, HGNC:HGNC:17623, HumanCyc Gene:HS00346, ModBase:Q9Y5A7, NCBI Gene:51667, OMIM:607981, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_057202, RefSeq RNA:NM_016118, UniProtKB:Q9Y5A7 No chr7 151038785 151075547 151341699 151378461 +PA31823 4682 HGNC:8041 ENSG00000103274 NUBP iron-sulfur cluster assembly factor 1, cytosolic NUBP1 nucleotide binding protein 1 CIAO5, NBP1, NBP35 Yes No Comparative Toxicogenomics Database:4682, Ensembl:ENSG00000103274, GenAtlas:NUBP1, GeneCard:NUBP1, HGNC:HGNC:8041, HumanCyc Gene:HS02484, ModBase:P53384, NCBI Gene:4682, OMIM:600280, RefSeq DNA:NT_010393, RefSeq Protein:NP_002475, RefSeq RNA:NM_002484, UCSC Genome Browser:NM_002484, UniProtKB:P53384 No chr16 10837643 10863208 10743164 10769351 +PA31824 10101 HGNC:8042 ENSG00000095906 NUBP iron-sulfur cluster assembly factor 2, cytosolic NUBP2 nucleotide binding protein 2 CFD1, CIAO6 Yes No Comparative Toxicogenomics Database:10101, Ensembl:ENSG00000095906, GenAtlas:NUBP2, GeneCard:NUBP2, HGNC:HGNC:8042, HumanCyc Gene:HS01836, ModBase:Q9Y5Y2, NCBI Gene:10101, OMIM:610779, RefSeq DNA:NT_010393, RefSeq Protein:NP_036357, RefSeq RNA:NM_012225, UCSC Genome Browser:NM_012225, UniProtKB:Q9Y5Y2 No chr16 1832931 1839192 1782923 1789191 +PA134907818 80224 HGNC:20278 ENSG00000151413 NUBP iron-sulfur cluster assembly factor, mitochondrial NUBPL iron-sulfur protein required for NADH dehydrogenase, nucleotide binding protein like, nucleotide binding protein-like C14orf127, FLJ12660, IND1, huInd1 Yes Yes Comparative Toxicogenomics Database:80224, Ensembl:ENSG00000151413, GeneCard:NUBPL, HGNC:HGNC:20278, HumanCyc Gene:HS07732, ModBase:Q8TB37, NCBI Gene:80224, RefSeq DNA:NT_026437, RefSeq Protein:NP_001188502, RefSeq Protein:NP_001188503, RefSeq Protein:NP_079428, RefSeq RNA:NM_001201573, RefSeq RNA:NM_001201574, RefSeq RNA:NM_025152, UniProtKB:Q8TB37 No chr14 32030591 32330430 31561385 31861293 +PA31825 4924 HGNC:8043 ENSG00000104805 nucleobindin 1 NUCB1 Calnuc, NUC Yes No Comparative Toxicogenomics Database:4924, Ensembl:ENSG00000104805, GenAtlas:NUCB1, GeneCard:NUCB1, HGNC:HGNC:8043, HumanCyc Gene:HS02620, ModBase:Q02818, NCBI Gene:4924, OMIM:601323, RefSeq DNA:NT_011109, RefSeq Protein:NP_006175, RefSeq RNA:NM_006184, UCSC Genome Browser:NM_006184, UniProtKB:Q02818 No chr19 49403307 49426540 48900050 48923283 +PA31826 4925 HGNC:8044 ENSG00000070081 nucleobindin 2 NUCB2 nesfatin, novel DNA binding/EF-hand/leucine zipper protein NEFA Yes Yes Comparative Toxicogenomics Database:4925, Ensembl:ENSG00000070081, GenAtlas:NUCB2, GeneCard:NUCB2, HGNC:HGNC:8044, HumanCyc Gene:HS00983, NCBI Gene:4925, OMIM:608020, RefSeq DNA:NT_009237, RefSeq Protein:NP_005004, RefSeq RNA:NM_005013, UCSC Genome Browser:NM_005013, UniProtKB:P80303 No chr11 17281884 17371510 17260340 17331881 +PA142671244 64710 HGNC:29923 ENSG00000069275 nuclear casein kinase and cyclin dependent kinase substrate 1 NUCKS1 nuclear casein kinase and cyclin-dependent kinase substrate 1 NUCKS Yes No Comparative Toxicogenomics Database:64710, Ensembl:ENSG00000069275, GeneCard:NUCKS1, HGNC:HGNC:29923, HumanCyc Gene:HS00958, ModBase:Q9H1E3, NCBI Gene:64710, OMIM:611912, RefSeq DNA:NT_004487, RefSeq Protein:NP_073568, RefSeq RNA:NM_022731, UniProtKB:Q9H1E3 No chr1 205681947 205719372 205712819 205750244 +PA31827 10726 HGNC:8045 ENSG00000090273 nuclear distribution C, dynein complex regulator NUDC nuclear distribution C homolog (A. nidulans), nudC nuclear distribution protein NudC Yes No Comparative Toxicogenomics Database:10726, Ensembl:ENSG00000090273, GenAtlas:NUDC, GeneCard:NUDC, HGNC:HGNC:8045, HumanCyc Gene:HS01681, ModBase:Q9Y266, NCBI Gene:10726, OMIM:610325, RefSeq DNA:NT_004610, RefSeq Protein:NP_006591, RefSeq RNA:NM_006600, UCSC Genome Browser:NM_006600, UniProtKB:Q9Y266 No chr1 27248187 27273362 26911128 26946871 +PA134985670 84955 HGNC:24306 ENSG00000120526 NudC domain containing 1 NUDCD1 CML66, FLJ14991 Yes No Comparative Toxicogenomics Database:84955, Ensembl:ENSG00000120526, GeneCard:NUDCD1, HGNC:HGNC:24306, HumanCyc Gene:HS12993, ModBase:Q96RS6, NCBI Gene:84955, OMIM:606109, RefSeq DNA:NT_008046, RefSeq Protein:NP_001121683, RefSeq Protein:NP_116258, RefSeq RNA:NM_001128211, RefSeq RNA:NM_032869, UniProtKB:Q96RS6 No chr8 110253148 110346486 109240919 109334205 +PA134991349 134492 HGNC:30535 ENSG00000170584 NudC domain containing 2 NUDCD2 DKFZp686E10109, NudCL2 Yes No Comparative Toxicogenomics Database:134492, Ensembl:ENSG00000170584, GeneCard:NUDCD2, HGNC:HGNC:30535, HumanCyc Gene:HS15898, ModBase:Q8WVJ2, NCBI Gene:134492, RefSeq DNA:NT_023133, RefSeq Protein:NP_660309, RefSeq RNA:NM_145266, UniProtKB:B2R4V0, UniProtKB:Q8WVJ2 No chr5 162880586 162887143 163453580 163460137 +PA134989375 23386 HGNC:22208 ENSG00000015676 NudC domain containing 3 NUDCD3 KIAA1068, NudCL Yes No Ensembl:ENSG00000015676, GeneCard:NUDCD3, HGNC:HGNC:22208, HumanCyc Gene:HS12054, ModBase:Q8IVD9, NCBI Gene:23386, OMIM:610296, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_056147, RefSeq RNA:NM_015332, UniProtKB:Q8IVD9 No chr7 44421965 44530474 44382366 44490875 +PA31828 10790 HGNC:8046 ENSG00000213197 nuclear distribution gene C homolog (A. nidulans) pseudogene 1 NUDCP1 Yes No Ensembl:ENSG00000213197, GenAtlas:NUDCP1, GeneCard:NUDCP1, HGNC:HGNC:8046, NCBI Gene:10790, RefSeq DNA:NG_001230, RefSeq DNA:NT_005403 No chr2 153246099 153247363 152389585 152390849 +PA31829 10789 HGNC:8047 ENSG00000238082 nuclear distribution gene C homolog (A. nidulans) pseudogene 2 NUDCP2 Yes No Ensembl:ENSG00000238082, GenAtlas:NUDCP2, GeneCard:NUDCP2, HGNC:HGNC:8047, NCBI Gene:10789, RefSeq DNA:NG_001229, RefSeq DNA:NT_005403 No chr2 179319443 179320385 178454716 178455643 +PA31830 4521 HGNC:8048 ENSG00000106268 nudix hydrolase 1 NUDT1 """7,8-dihydro-8-oxoguanine triphosphatase"", ""8-oxo-7,8-dihydrodeoxyguanosine triphosphatase"", ""8-oxo-7,8-dihydroguanosine triphosphatase"", ""8-oxo-dGTPase"", ""mutT human homolog 1"", ""nucleoside diphosphate-linked moiety X-type motif 1"", ""nudix (nucleoside diphosphate linked moiety X)-type motif 1"", ""nudix motif 1""" MTH1 Yes No Comparative Toxicogenomics Database:4521, Ensembl:ENSG00000106268, GenAtlas:NUDT1, GeneCard:NUDT1, HGNC:HGNC:8048, HumanCyc Gene:HS02879, ModBase:P36639, NCBI Gene:4521, OMIM:600312, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002443, RefSeq Protein:NP_945186, RefSeq Protein:NP_945187, RefSeq Protein:NP_945188, RefSeq Protein:NP_945190, RefSeq Protein:NP_945191, RefSeq Protein:NP_945192, RefSeq RNA:NM_002452, RefSeq RNA:NM_198948, RefSeq RNA:NM_198949, RefSeq RNA:NM_198950, RefSeq RNA:NM_198952, RefSeq RNA:NM_198953, RefSeq RNA:NM_198954, UCSC Genome Browser:NM_002452, UniProtKB:P36639, UniProtKB:Q7Z7N6 No chr7 2281857 2290780 2242222 2251145 +PA31831 170685 HGNC:17621 ENSG00000122824 nudix hydrolase 10 NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10 DIPP3a, hDIPP3alpha Yes No Ensembl:ENSG00000122824, GenAtlas:NUDT10, GeneCard:NUDT10, HGNC:HGNC:17621, ModBase:Q8NFP7, NCBI Gene:170685, OMIM:300527, RefSeq DNA:NT_011638, RefSeq Protein:NP_694853, RefSeq RNA:NM_153183, UniProtKB:Q8NFP7 No chrX 51075083 51080377 51332231 51337525 +PA31832 55190 HGNC:18011 ENSG00000196368 nudix hydrolase 11 NUDT11 nudix (nucleoside diphosphate linked moiety X)-type motif 11 DIPP3b, FLJ10628, hDIPP3beta Yes No Comparative Toxicogenomics Database:55190, Ensembl:ENSG00000196368, GenAtlas:NUDT11, GeneCard:NUDT11, HGNC:HGNC:18011, HumanCyc Gene:HS04604, HumanCyc Gene:HS05381, ModBase:Q96G61, NCBI Gene:55190, OMIM:300528, RefSeq DNA:NT_011638, RefSeq Protein:NP_060629, RefSeq RNA:NM_018159, UCSC Genome Browser:NM_018159, UniProtKB:Q96G61 No chrX 51232863 51239459 51490011 51496607 +PA38699 83594 HGNC:18826 ENSG00000112874 nudix hydrolase 12 NUDT12 nucleoside diphosphate linked moiety X-type motif 12, nudix (nucleoside diphosphate linked moiety X)-type motif 12 DKFZP761I172 Yes No Comparative Toxicogenomics Database:83594, Ensembl:ENSG00000112874, GenAtlas:NUDT12, GeneCard:NUDT12, HGNC:HGNC:18826, HumanCyc Gene:HS12784, ModBase:Q9BQG2, NCBI Gene:83594, OMIM:609232, RefSeq DNA:NT_034772, RefSeq Protein:NP_113626, RefSeq RNA:NM_031438, UCSC Genome Browser:NM_031438, UniProtKB:Q9BQG2 No chr5 102884556 102898493 103548855 103562805 +PA38700 25961 HGNC:18827 ENSG00000166321 nudix hydrolase 13 NUDT13 nudix (nucleoside diphosphate linked moiety X)-type motif 13 DKFZp586P2219 Yes No Comparative Toxicogenomics Database:25961, Ensembl:ENSG00000166321, GenAtlas:NUDT13, GeneCard:NUDT13, HGNC:HGNC:18827, HumanCyc Gene:HS15427, ModBase:Q86X67, NCBI Gene:25961, OMIM:609233, RefSeq DNA:NT_030059, RefSeq Protein:NP_056985, RefSeq RNA:NM_015901, UCSC Genome Browser:NM_015901, UniProtKB:Q86X67 No chr10 74870133 74891583 73110375 73131828 +PA134971372 256281 HGNC:20141 ENSG00000183828 nudix hydrolase 14 NUDT14 nudix (nucleoside diphosphate linked moiety X)-type motif 14, uridine diphosphate glucose pyrophosphatase UGPP Yes No Ensembl:ENSG00000183828, GeneCard:NUDT14, HGNC:HGNC:20141, HumanCyc Gene:HS11943, ModBase:O95848, NCBI Gene:256281, OMIM:609219, RefSeq DNA:NT_026437, RefSeq Protein:NP_803877, RefSeq RNA:NM_177533, UniProtKB:O95848 No chr14 105639274 105647660 105172937 105181323 +PA134963132 55270 HGNC:23063 ENSG00000136159 nudix hydrolase 15 NUDT15 nudix (nucleoside diphosphate linked moiety X)-type motif 15 FLJ10956, MTH2 Yes Yes Ensembl:ENSG00000136159, GeneCard:NUDT15, HGNC:HGNC:23063, HumanCyc Gene:HS13617, ModBase:Q9NV35, NCBI Gene:55270, PharmVar Gene:NUDT15, RefSeq DNA:NG_047021.1, RefSeq Protein:NP_060753, RefSeq RNA:NM_018283, UniProtKB:Q9NV35 Yes chr13 48611862 48626891 48037726 48052755 +PA142671236 574532 HGNC:17266 nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 1 NUDT15P1 Yes No GeneCard:NUDT15P1, HGNC:HGNC:17266, NCBI Gene:574532 No chr8 60470019 60470480 59556699 59557936 +PA142671237 574533 HGNC:20784 nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 2 NUDT15P2 Yes No GeneCard:NUDT15P2, HGNC:HGNC:20784, NCBI Gene:574533 No chr17 30755106 30762447 32428087 32435429 +PA134955224 131870 HGNC:26442 ENSG00000198585 nudix hydrolase 16 NUDT16 nudix (nucleoside diphosphate linked moiety X)-type motif 16 FLJ31265 Yes No Ensembl:ENSG00000198585, GeneCard:NUDT16, HGNC:HGNC:26442, ModBase:Q96DE0, NCBI Gene:131870, RefSeq DNA:NT_005612, RefSeq Protein:NP_001165376, RefSeq Protein:NP_001165377, RefSeq Protein:NP_689608, RefSeq RNA:NM_001171905, RefSeq RNA:NM_001171906, RefSeq RNA:NM_152395, RefSeq RNA:NR_033268, UniProtKB:B4E3B4, UniProtKB:Q96DE0 No chr3 131100515 131107674 131381671 131388830 +PA134977238 84309 HGNC:28154 ENSG00000168101 nudix hydrolase 16 like 1 NUDT16L1 nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1, syndesmos SDOS, TIRR Yes No Comparative Toxicogenomics Database:84309, Ensembl:ENSG00000168101, GeneCard:NUDT16L1, HGNC:HGNC:28154, HumanCyc Gene:HS15637, ModBase:Q9BRJ7, NCBI Gene:84309, RefSeq DNA:NT_010393, RefSeq Protein:NP_001180381, RefSeq Protein:NP_115725, RefSeq RNA:NM_001193452, RefSeq RNA:NM_032349, UniProtKB:Q9BRJ7 No chr16 4743526 4745860 4691340 4695859 +PA134890899 200035 HGNC:26618 ENSG00000186364 nudix hydrolase 17 NUDT17 nucleoside diphosphate-linked moiety X motif 17, nudix (nucleoside diphosphate linked moiety X)-type motif 17 FLJ34433 Yes No Ensembl:ENSG00000186364, GeneCard:NUDT17, HGNC:HGNC:26618, ModBase:P0C025, NCBI Gene:200035, RefSeq DNA:NT_167185, RefSeq Protein:NP_001012776, RefSeq RNA:NM_001012758, UniProtKB:P0C025 No chr1 145586491 145589435 145844985 145848954 +PA142671238 79873 HGNC:26194 ENSG00000275074 nudix hydrolase 18 NUDT18 mutT human homolog 3, nudix (nucleoside diphosphate linked moiety X)-type motif 18 FLJ22494, MTH3 Yes No Comparative Toxicogenomics Database:79873, Ensembl:ENSG00000275074, GeneCard:NUDT18, HGNC:HGNC:26194, HumanCyc Gene:HS16226, ModBase:Q6ZVK8, NCBI Gene:79873, RefSeq DNA:NT_167187, RefSeq Protein:NP_079091, RefSeq RNA:NM_024815, UniProtKB:Q6ZVK8 No chr8 21964383 21966932 22106872 22110355 +PA142671239 390916 HGNC:32036 ENSG00000213965 nudix hydrolase 19 NUDT19 nudix (nucleoside diphosphate linked moiety X)-type motif 19 RP2 Yes No Ensembl:ENSG00000213965, GeneCard:NUDT19, HGNC:HGNC:32036, ModBase:A8MXV4, NCBI Gene:390916, RefSeq DNA:NT_011109, RefSeq Protein:NP_001099040, RefSeq RNA:NM_001105570, UniProtKB:A8MXV4 No chr19 33157186 33204702 32691607 32713796 +PA31833 318 HGNC:8049 ENSG00000164978 nudix hydrolase 2 NUDT2 """Ap4A hydrolase 1"", ""Ap4Aase"", ""bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)"", ""diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"", ""diadenosine tetraphosphatase"", ""nudix (nucleoside diphosphate linked moiety X)-type motif 2""" APAH1 Yes No Comparative Toxicogenomics Database:318, Ensembl:ENSG00000164978, GenAtlas:NUDT2, GeneCard:NUDT2, HGNC:HGNC:8049, HumanCyc Gene:HS09170, ModBase:P50583, NCBI Gene:318, OMIM:602852, RefSeq DNA:NT_008413, RefSeq Protein:NP_001152, RefSeq Protein:NP_671701, RefSeq Protein:NP_671702, RefSeq RNA:NM_001161, RefSeq RNA:NM_147172, RefSeq RNA:NM_147173, UCSC Genome Browser:NM_001161, UniProtKB:P50583 No chr9 34329504 34343711 34329506 34343713 +PA26845 11051 HGNC:13870 ENSG00000167005 nudix hydrolase 21 NUDT21 cleavage factor Im complex 25 kDa subunit, nudix (nucleoside diphosphate linked moiety X)-type motif 21 CFIM25, CPSF5 Yes No Comparative Toxicogenomics Database:11051, Ensembl:ENSG00000167005, GenAtlas:NUDT21, GeneCard:NUDT21, HGNC:HGNC:13870, HumanCyc Gene:HS09500, ModBase:O43809, NCBI Gene:11051, OMIM:604978, RefSeq DNA:NT_010498, RefSeq Protein:NP_008937, RefSeq RNA:NM_007006, UCSC Genome Browser:NM_007006, UniProtKB:O43809 No chr16 56463048 56485261 56429136 56451349 +PA142671240 84304 HGNC:28189 ENSG00000149761 nudix hydrolase 22 NUDT22 nudix (nucleoside diphosphate linked moiety X)-type motif 22 MGC13045 Yes No Comparative Toxicogenomics Database:84304, Ensembl:ENSG00000149761, GeneCard:NUDT22, HGNC:HGNC:28189, HumanCyc Gene:HS14306, ModBase:Q9BRQ3, NCBI Gene:84304, RefSeq DNA:NT_167190, RefSeq Protein:NP_001122084, RefSeq Protein:NP_001122085, RefSeq Protein:NP_115720, RefSeq RNA:NM_001128612, RefSeq RNA:NM_001128613, RefSeq RNA:NM_032344, UniProtKB:Q9BRQ3 No chr11 63993730 63997491 64226258 64230016 +PA31834 11165 HGNC:8050 ENSG00000272325 nudix hydrolase 3 NUDT3 nudix (nucleoside diphosphate linked moiety X)-type motif 3 DIPP Yes No Comparative Toxicogenomics Database:11165, Ensembl:ENSG00000272325, GenAtlas:NUDT3, GeneCard:NUDT3, HGNC:HGNC:8050, HumanCyc Gene:HS03602, ModBase:O95989, NCBI Gene:11165, OMIM:609228, RefSeq DNA:NT_007592, RefSeq Protein:NP_006694, RefSeq RNA:NM_006703, UCSC Genome Browser:NM_006703, UniProtKB:O95989 No chr6 34254971 34360457 34287194 34392680 +PA31835 11163 HGNC:8051 ENSG00000173598 nudix hydrolase 4 NUDT4 diphosphoinositol polyphosphate phosphohydrolase type 2, nudix (nucleoside diphosphate linked moiety X)-type motif 4 DIPP2, DIPP2alpha, DIPP2beta, HDCMB47P, KIAA0487 Yes No Comparative Toxicogenomics Database:11163, Ensembl:ENSG00000173598, GenAtlas:NUDT4, GeneCard:NUDT4, HGNC:HGNC:8051, HumanCyc Gene:HS11129, ModBase:Q9NZJ9, NCBI Gene:11163, OMIM:609229, RefSeq DNA:NT_029419, RefSeq Protein:NP_061967, RefSeq Protein:NP_950241, RefSeq RNA:NM_019094, RefSeq RNA:NM_199040, UCSC Genome Browser:NM_019094, UniProtKB:Q9NZJ9 No chr12 93771701 93797024 93377923 93403248 +PA31836 440672 HGNC:18012 ENSG00000177144 nudix hydrolase 4B NUDT4B nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1 NUDT4P1 Yes No Ensembl:ENSG00000177144, GenAtlas:NUDT4P1, GeneCard:NUDT4P1, HGNC:HGNC:18012, NCBI Gene:440672, RefSeq DNA:NT_167185, RefSeq RNA:NM_001355407 No chr1 145136108 145139932 148748600 148752401 +PA31838 11164 HGNC:8052 ENSG00000165609 nudix hydrolase 5 NUDT5 nudix (nucleoside diphosphate linked moiety X)-type motif 5 YSA1H, hYSAH1 Yes No Comparative Toxicogenomics Database:11164, Ensembl:ENSG00000165609, GenAtlas:NUDT5, GeneCard:NUDT5, HGNC:HGNC:8052, HumanCyc Gene:HS09255, ModBase:Q9UKK9, NCBI Gene:11164, OMIM:609230, RefSeq DNA:NT_008705, RefSeq Protein:NP_054861, RefSeq RNA:NM_014142, UCSC Genome Browser:NM_014142, UniProtKB:Q9UKK9 No chr10 12209573 12238143 12165328 12196144 +PA31839 11162 HGNC:8053 ENSG00000170917 nudix hydrolase 6 NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6 FGF-AS, FGF2AS, gfg, gfg-1 Yes No Comparative Toxicogenomics Database:11162, Ensembl:ENSG00000170917, GenAtlas:NUDT6, GeneCard:NUDT6, HGNC:HGNC:8053, HumanCyc Gene:HS10207, ModBase:P53370, NCBI Gene:11162, OMIM:606261, RefSeq DNA:NT_016354, RefSeq Protein:NP_009014, RefSeq Protein:NP_932158, RefSeq RNA:NM_007083, RefSeq RNA:NM_198041, UCSC Genome Browser:NM_007083, UniProtKB:P53370 No chr4 123813799 123844159 122892644 122923004 +PA31840 283927 HGNC:8054 ENSG00000140876 nudix hydrolase 7 NUDT7 nudix (nucleoside diphosphate linked moiety X)-type motif 7 Yes No Comparative Toxicogenomics Database:283927, Ensembl:ENSG00000140876, GenAtlas:NUDT7, GeneCard:NUDT7, HGNC:HGNC:8054, ModBase:P0C024, NCBI Gene:283927, OMIM:609231, RefSeq DNA:NT_010498, RefSeq Protein:NP_001099133, RefSeq RNA:NM_001105663, RefSeq RNA:NR_024154, UniProtKB:P0C024 No chr16 77756389 77809332 77722488 77742260 +PA31841 254552 HGNC:8055 ENSG00000167799 nudix hydrolase 8 NUDT8 nudix (nucleoside diphosphate linked moiety X)-type motif 8 FLJ41567 Yes No Comparative Toxicogenomics Database:254552, Ensembl:ENSG00000167799, GenAtlas:NUDT8, GeneCard:NUDT8, HGNC:HGNC:8055, ModBase:Q8WV74, NCBI Gene:254552, RefSeq DNA:NT_167190, RefSeq Protein:NP_862826, RefSeq RNA:NM_181843, UCSC Genome Browser:NM_181843, UniProtKB:Q8WV74 No chr11 67395409 67397408 67621421 67630116 +PA31842 53343 HGNC:8056 ENSG00000170502 nudix hydrolase 9 NUDT9 nudix (nucleoside diphosphate linked moiety X)-type motif 9 MGC3037 Yes No Comparative Toxicogenomics Database:53343, Ensembl:ENSG00000170502, GenAtlas:NUDT9, GeneCard:NUDT9, HGNC:HGNC:8056, HumanCyc Gene:HS10140, NCBI Gene:53343, OMIM:606022, RefSeq DNA:NT_016354, RefSeq Protein:NP_076952, RefSeq Protein:NP_932155, RefSeq RNA:NM_024047, RefSeq RNA:NM_198038, UCSC Genome Browser:NM_024047, UniProtKB:Q8NG26, UniProtKB:Q96KB3, UniProtKB:Q9BW91 No chr4 88343728 88380606 87420002 87459454 +PA134981804 119369 HGNC:28523 ENSG00000234043 nudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1 NUDT9P1 MGC34007, bA56M3.1 Yes No Ensembl:ENSG00000234043, GeneCard:NUDT9P1, HGNC:HGNC:28523, NCBI Gene:119369, RefSeq DNA:NT_030059, RefSeq RNA:NR_002779 No chr10 92911752 92912840 91151995 91153083 +PA162398215 83540 HGNC:14621 ENSG00000143228 NUF2 component of NDC80 kinetochore complex NUF2 """NDC80 kinetochore complex component NUF2"", ""NUF2, NDC80 kinetochore complex component"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"", ""cancer/testis antigen 106""" CDCA1, CT106, NUF2R Yes No Ensembl:ENSG00000143228, GeneCard:NUF2, HGNC:HGNC:14621, HumanCyc Gene:HS13957, ModBase:Q9BZD4, NCBI Gene:83540, OMIM:611772, RefSeq DNA:NT_004487, RefSeq Protein:NP_113611, RefSeq Protein:NP_663735, RefSeq RNA:NM_031423, RefSeq RNA:NM_145697, UniProtKB:Q9BZD4 No chr1 163291723 163325553 163321933 163355764 +PA31843 26747 HGNC:8057 ENSG00000083635 nuclear FMR1 interacting protein 1 NUFIP1 nuclear fragile X mental retardation protein interacting protein 1 NUFIP, Rsa1 Yes No Comparative Toxicogenomics Database:26747, Ensembl:ENSG00000083635, GenAtlas:NUFIP1, GeneCard:NUFIP1, HGNC:HGNC:8057, HumanCyc Gene:HS01445, NCBI Gene:26747, OMIM:604354, RefSeq DNA:NT_024524, RefSeq Protein:NP_036477, RefSeq RNA:NM_012345, UCSC Genome Browser:NM_012345, UniProtKB:Q9UHK0 No chr13 45513384 45563613 44939249 44989478 +PA143485564 57532 HGNC:17634 ENSG00000108256 nuclear FMR1 interacting protein 2 NUFIP2 nuclear fragile X mental retardation protein interacting protein 2 182-FIP, 82-FIP, FIP-82, KIAA1321, MGC117262, NUFP2, PIG1 Yes No Ensembl:ENSG00000108256, GeneCard:NUFIP2, HGNC:HGNC:17634, ModBase:Q7Z417, NCBI Gene:57532, OMIM:609356, RefSeq DNA:NT_010799, RefSeq Protein:NP_065823, RefSeq RNA:NM_020772, UniProtKB:A1L3A7, UniProtKB:Q7Z417 No chr17 27582854 27621166 29255836 29294148 +PA162380784 389643 HGNC:33550 ENSG00000189233 nuclear GTPase, germinal center associated NUGGC speckled-like pattern in the germinal center C8orf80, HMFN0672, SLIP-GC Yes No Ensembl:ENSG00000189233, GeneCard:C8orf80, HGNC:HGNC:33550, NCBI Gene:389643, RefSeq DNA:NT_167187, RefSeq Protein:NP_001010906, RefSeq RNA:NM_001010906, UniProtKB:Q68CJ6 No chr8 27879481 27941431 28021964 28084068 +PA31844 4926 HGNC:8059 ENSG00000137497 nuclear mitotic apparatus protein 1 NUMA1 NUMA Yes Yes Ensembl:ENSG00000137497, GenAtlas:NUMA1, GeneCard:NUMA1, HGNC:HGNC:8059, HumanCyc Gene:HS06351, ModBase:Q14980, NCBI Gene:4926, OMIM:164009, RefSeq DNA:NT_167190, RefSeq Protein:NP_006176, RefSeq RNA:NM_006185, UCSC Genome Browser:NM_006185, UniProtKB:Q14980, UniProtKB:Q3SYK8, UniProtKB:Q4LE64 No chr11 71713910 71791732 72002864 72080693 +PA31845 8650 HGNC:8060 ENSG00000133961 NUMB endocytic adaptor protein NUMB """NUMB, endocytic adaptor protein"", ""numb homolog (Drosophila)""" C14orf41 Yes No Ensembl:ENSG00000133961, GenAtlas:NUMB, GeneCard:NUMB, HGNC:HGNC:8060, HumanCyc Gene:HS05799, ModBase:Q9UKF0, NCBI Gene:8650, OMIM:603728, RefSeq DNA:NT_026437, RefSeq Protein:NP_001005743, RefSeq Protein:NP_001005744, RefSeq Protein:NP_001005745, RefSeq Protein:NP_003735, RefSeq RNA:NM_001005743, RefSeq RNA:NM_001005744, RefSeq RNA:NM_001005745, RefSeq RNA:NM_003744, UCSC Genome Browser:NM_003744, UniProtKB:P49757 No chr14 73741858 73925288 73275210 73458580 +PA31846 9253 HGNC:8061 ENSG00000105245 NUMB like endocytic adaptor protein NUMBL """NUMB like, endocytic adaptor protein"", ""numb homolog (Drosophila)-like""" CAG3A, CTG3a, NUMB-R, NUMBLIKE, NUMBR, TNRC23 Yes No Comparative Toxicogenomics Database:9253, Ensembl:ENSG00000105245, GenAtlas:NUMBL, GeneCard:NUMBL, HGNC:HGNC:8061, HumanCyc Gene:HS02698, ModBase:Q9Y6R0, NCBI Gene:9253, OMIM:604018, RefSeq DNA:NT_011109, RefSeq Protein:NP_004747, RefSeq RNA:NM_004756, UCSC Genome Browser:NM_004756, UniProtKB:Q9Y6R0 No chr19 41171810 41196556 40665905 40690658 +PA134890486 57122 HGNC:29914 ENSG00000111581 nucleoporin 107 NUP107 nuclear pore complex protein Nup107, nucleoporin 107kDa NUP84 Yes Yes Comparative Toxicogenomics Database:57122, Ensembl:ENSG00000111581, GeneCard:NUP107, HGNC:HGNC:29914, HumanCyc Gene:HS03426, NCBI Gene:57122, OMIM:607617, RefSeq DNA:NT_029419, RefSeq Protein:NP_065134, RefSeq RNA:NM_020401, UniProtKB:P57740 No chr12 69080731 69136473 68686951 68742693 +PA31847 55746 HGNC:18016 ENSG00000069248 nucleoporin 133 NUP133 nucleoporin 133kDa FLJ10814 Yes No Comparative Toxicogenomics Database:55746, Ensembl:ENSG00000069248, GenAtlas:NUP133, GeneCard:NUP133, HGNC:HGNC:18016, HumanCyc Gene:HS00957, ModBase:Q8WUM0, NCBI Gene:55746, OMIM:607613, RefSeq DNA:NG_011969, RefSeq DNA:NT_167186, RefSeq Protein:NP_060700, RefSeq RNA:NM_018230, UCSC Genome Browser:NM_018230, UniProtKB:Q8WUM0 No chr1 229577044 229644088 229440995 229508343 +PA31848 9972 HGNC:8062 ENSG00000124789 nucleoporin 153 NUP153 nucleoporin 153kDa HNUP153 Yes No Comparative Toxicogenomics Database:9972, Ensembl:ENSG00000124789, GenAtlas:NUP153, GeneCard:NUP153, HGNC:HGNC:8062, HumanCyc Gene:HS04836, ModBase:P49790, NCBI Gene:9972, OMIM:603948, RefSeq DNA:NT_007592, RefSeq Protein:NP_005115, RefSeq RNA:NM_005124, UCSC Genome Browser:NM_005124, UniProtKB:P49790 No chr6 17615266 17707065 17615035 17706834 +PA31849 9631 HGNC:8063 ENSG00000113569 nucleoporin 155 NUP155 nucleoporin 155kDa KIAA0791, N155 Yes No Ensembl:ENSG00000113569, GenAtlas:NUP155, GeneCard:NUP155, HGNC:HGNC:8063, HumanCyc Gene:HS03695, ModBase:O75694, NCBI Gene:9631, OMIM:606694, RefSeq DNA:NT_006576, RefSeq Protein:NP_004289, RefSeq Protein:NP_705618, RefSeq RNA:NM_004298, RefSeq RNA:NM_153485, UCSC Genome Browser:NM_004298, UniProtKB:O75694 No chr5 37291735 37371228 37291633 37371455 +PA31850 23279 HGNC:18017 ENSG00000030066 nucleoporin 160 NUP160 Nuclear pore complex protein Nup160, nucleoporin 160kDa FLJ22583, KIAA0197 Yes No Comparative Toxicogenomics Database:23279, Ensembl:ENSG00000030066, GenAtlas:NUP160, GeneCard:NUP160, HGNC:HGNC:18017, HumanCyc Gene:HS00475, ModBase:Q12769, NCBI Gene:23279, OMIM:607614, RefSeq DNA:NT_009237, RefSeq Protein:NP_056046, RefSeq RNA:NM_015231, UniProtKB:Q12769 No chr11 47799670 47870057 47778083 47848544 +PA134908952 23511 HGNC:17859 ENSG00000095319 nucleoporin 188 NUP188 nucleoporin 188kDa KIAA0169 Yes No Ensembl:ENSG00000095319, GeneCard:NUP188, HGNC:HGNC:17859, ModBase:Q5SRE5, NCBI Gene:23511, RefSeq DNA:NT_008470, RefSeq Protein:NP_056169, RefSeq RNA:NM_015354, UniProtKB:Q5SRE5 No chr9 131709972 131769375 128947693 129007096 +PA38624 23165 HGNC:18658 ENSG00000155561 nucleoporin 205 NUP205 nuclear pore complex protein Nup205, nucleoporin 205kDa C7orf14, KIAA0225 Yes No Comparative Toxicogenomics Database:23165, Ensembl:ENSG00000155561, GenAtlas:NUP205, GeneCard:NUP205, HGNC:HGNC:18658, HumanCyc Gene:HS14571, NCBI Gene:23165, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_055950, RefSeq RNA:NM_015135, UniProtKB:Q92621 No chr7 135242662 135333501 135557914 135648753 +PA128394614 23225 HGNC:30052 ENSG00000132182 nucleoporin 210 NUP210 nucleoporin 210kDa FLJ22389, GP210, KIAA0906, POM210 Yes No Comparative Toxicogenomics Database:23225, Ensembl:ENSG00000132182, GeneCard:NUP210, HGNC:HGNC:30052, HumanCyc Gene:HS13417, ModBase:Q8TEM1, NCBI Gene:23225, OMIM:607703, RefSeq DNA:NT_022517, RefSeq Protein:NP_079199, RefSeq RNA:NM_024923, UCSC Genome Browser:NM_024923, UniProtKB:Q8TEM1 No chr3 13357730 13461819 13316230 13420319 +PA134984604 91181 HGNC:29915 ENSG00000143552 nucleoporin 210 like NUP210L nucleoporin 210kDa-like Yes No Ensembl:ENSG00000143552, GeneCard:NUP210L, HGNC:HGNC:29915, ModBase:Q5VU65, NCBI Gene:91181, RefSeq DNA:NT_004487, RefSeq Protein:NP_001152956, RefSeq Protein:NP_997191, RefSeq RNA:NM_001159484, RefSeq RNA:NM_207308, UniProtKB:Q5VU65, UniProtKB:Q9UF31 No chr1 153965166 154127592 153992582 154155116 +PA143485323 255330 HGNC:27399 ENSG00000198284 nucleoporin 210kDa pseudogene 1 NUP210P1 Yes No Ensembl:ENSG00000198284, GeneCard:NUP210P1, HGNC:HGNC:27399, NCBI Gene:255330, RefSeq DNA:NT_005612, RefSeq RNA:NR_034158, RefSeq RNA:XR_040325, RefSeq RNA:XR_040326, RefSeq RNA:XR_040327 No chr3 126380924 126390782 126662081 126671939 +PA31851 8021 HGNC:8064 ENSG00000126883 nucleoporin 214 NUP214 """CAN protein, putative oncogene"", ""nuclear pore complex protein Nup214"", ""nucleoporin 214kDa""" CAIN, CAN, D9S46E, N214 Yes No Comparative Toxicogenomics Database:8021, Ensembl:ENSG00000126883, GenAtlas:NUP214, GeneCard:NUP214, HGNC:HGNC:8064, HumanCyc Gene:HS05058, ModBase:P35658, NCBI Gene:8021, OMIM:114350, OMIM:601626, RefSeq DNA:NG_023371, RefSeq DNA:NT_035014, RefSeq Protein:NP_005076, RefSeq RNA:NM_005085, UCSC Genome Browser:NM_005085, UniProtKB:P35658 No chr9 134000948 134110057 131125561 131234670 +PA134861481 129401 HGNC:29797 ENSG00000163002 nucleoporin 35 NUP35 mitotic phosphoprotein 44, nucleoporin 35kDa MP44 Yes No Comparative Toxicogenomics Database:129401, Ensembl:ENSG00000163002, GeneCard:NUP35, HGNC:HGNC:29797, HumanCyc Gene:HS15002, ModBase:Q8NFH5, NCBI Gene:129401, OMIM:608140, RefSeq DNA:NT_005403, RefSeq Protein:NP_612142, RefSeq RNA:NM_138285, UniProtKB:Q8NFH5 No chr2 183982247 184026408 183117490 183161684 +PA134948997 79023 HGNC:29929 ENSG00000075188 nucleoporin 37 NUP37 nucleoporin 37kDa FLJ22618, MGC5585 Yes No Comparative Toxicogenomics Database:79023, Ensembl:ENSG00000075188, GeneCard:NUP37, HGNC:HGNC:29929, HumanCyc Gene:HS01163, ModBase:Q8NFH4, NCBI Gene:79023, OMIM:609264, RefSeq DNA:NT_029419, RefSeq Protein:NP_076962, RefSeq RNA:NM_024057, UniProtKB:Q8NFH4 No chr12 102467967 102514025 102074189 102120139 +PA134990469 11097 HGNC:17010 ENSG00000136243 nucleoporin 42 NUP42 nucleoporin like 2, nucleoporin-like protein 1 CG1, H_RG271G13.9, NLP_1, NUPL2, hCG1 Yes No Ensembl:ENSG00000136243, GeneCard:NUPL2, HGNC:HGNC:17010, HumanCyc Gene:HS06136, ModBase:O15504, NCBI Gene:11097, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_031368, RefSeq RNA:NM_007342, UniProtKB:O15504 No chr7 23221446 23240630 23181567 23201011 +PA134930788 348995 HGNC:21182 ENSG00000120253 nucleoporin 43 NUP43 nucleoporin 43kDa FLJ13287, bA350J20.1 Yes No Comparative Toxicogenomics Database:348995, Ensembl:ENSG00000120253, GeneCard:NUP43, HGNC:HGNC:21182, ModBase:Q8NFH3, NCBI Gene:348995, OMIM:608141, RefSeq DNA:NT_025741, RefSeq Protein:NP_942590, RefSeq RNA:NM_198887, UniProtKB:Q8NFH3, UniProtKB:Q8TEA6 No chr6 150045457 150067688 149724315 149746572 +PA31852 10762 HGNC:8065 ENSG00000093000 nucleoporin 50 NUP50 nucleoporin 50kDa NPAP60L Yes No Comparative Toxicogenomics Database:10762, Ensembl:ENSG00000093000, GenAtlas:NUP50, GeneCard:NUP50, HGNC:HGNC:8065, HumanCyc Gene:HS01789, ModBase:Q9UKX7, NCBI Gene:10762, OMIM:604646, RefSeq DNA:NT_011520, RefSeq Protein:NP_009103, RefSeq Protein:NP_705931, RefSeq RNA:NM_007172, RefSeq RNA:NM_153645, UCSC Genome Browser:NM_007172, UniProtKB:Q8N6V5, UniProtKB:Q9UKX7 No chr22 45559726 45583892 45163845 45188011 +PA134924391 145375 HGNC:20025 ENSG00000259010 nucleoporin 50 pseudogene 1 NUP50P1 Yes No Ensembl:ENSG00000259010, HGNC:HGNC:20025, NCBI Gene:145375, RefSeq DNA:NG_002384, RefSeq DNA:NT_026437 No chr14 65063610 65068669 64596892 64601951 +PA31853 53371 HGNC:17359 ENSG00000138750 nucleoporin 54 NUP54 nucleoporin 54kDa Yes No Ensembl:ENSG00000138750, GenAtlas:NUP54, GeneCard:NUP54, HGNC:HGNC:17359, HumanCyc Gene:HS06546, ModBase:Q7Z3B4, NCBI Gene:53371, OMIM:607607, RefSeq DNA:NT_016354, RefSeq Protein:NP_059122, RefSeq RNA:NM_017426, UCSC Genome Browser:NM_017426, UniProtKB:Q7Z3B4 No chr4 77035812 77069668 76114659 76148515 +PA134981903 9818 HGNC:20261 ENSG00000139496 nucleoporin 58 NUP58 nucleoporin like 1 KIAA0410, NUP45, NUPL1 Yes No Comparative Toxicogenomics Database:9818, Ensembl:ENSG00000139496, GeneCard:NUPL1, HGNC:HGNC:20261, HumanCyc Gene:HS13782, ModBase:Q9BVL2, NCBI Gene:9818, OMIM:607615, RefSeq DNA:NT_024524, RefSeq Protein:NP_001008564, RefSeq Protein:NP_001008565, RefSeq Protein:NP_054808, RefSeq RNA:NM_001008564, RefSeq RNA:NM_001008565, RefSeq RNA:NM_014089, UniProtKB:A6NI12, UniProtKB:Q9BVL2 No chr13 25875222 25916561 25301152 25349795 +PA31854 23636 HGNC:8066 ENSG00000213024 nucleoporin 62 NUP62 nuclear pore glycoprotein p62, nucleoporin 62kDa DKFZp547L134, FLJ20822, FLJ43869, IBSN, MGC841, SNDI, p62 Yes Yes Comparative Toxicogenomics Database:23636, Ensembl:ENSG00000213024, GenAtlas:NUP62, GeneCard:NUP62, HGNC:HGNC:8066, HumanCyc Gene:HS02660, ModBase:P37198, NCBI Gene:23636, OMIM:271930, OMIM:605815, RefSeq DNA:NG_023448, RefSeq DNA:NT_011109, RefSeq Protein:NP_001180286, RefSeq Protein:NP_036478, RefSeq Protein:NP_057637, RefSeq Protein:NP_714940, RefSeq Protein:NP_714941, RefSeq RNA:NM_001193357, RefSeq RNA:NM_012346, RefSeq RNA:NM_016553, RefSeq RNA:NM_153718, RefSeq RNA:NM_153719, UCSC Genome Browser:NM_012346, UniProtKB:P37198 No chr19 50410082 50432988 49906825 49929731 +PA145148360 54830 HGNC:25960 ENSG00000198088 nucleoporin 62 C-terminal like NUP62CL nucleoporin 62kDa C-terminal like FLJ20130 Yes No Comparative Toxicogenomics Database:54830, Ensembl:ENSG00000198088, GeneCard:NUP62CL, HGNC:HGNC:25960, ModBase:Q9H1M0, NCBI Gene:54830, RefSeq DNA:NG_021315, RefSeq DNA:NT_011651, RefSeq Protein:NP_060151, RefSeq RNA:NM_017681, RefSeq RNA:NR_033676, UniProtKB:Q9H1M0 No chrX 106366657 106449670 107123427 107206440 +PA142671241 79902 HGNC:8734 ENSG00000125450 nucleoporin 85 NUP85 nucleoporin 85kDa FLJ12549, NUP75 Yes No Comparative Toxicogenomics Database:79902, Ensembl:ENSG00000125450, GeneCard:NUP85, HGNC:HGNC:8734, HumanCyc Gene:HS04888, ModBase:Q9BW27, NCBI Gene:79902, OMIM:170285, RefSeq DNA:NT_010783, RefSeq Protein:NP_079120, RefSeq RNA:NM_024844, UniProtKB:Q9BW27 No chr17 73201597 73231854 75205450 75235759 +PA31855 4927 HGNC:8067 ENSG00000108559 nucleoporin 88 NUP88 nucleoporin 88kDa MGC8530 Yes No Comparative Toxicogenomics Database:4927, Ensembl:ENSG00000108559, GenAtlas:NUP88, GeneCard:NUP88, HGNC:HGNC:8067, HumanCyc Gene:HS03124, ModBase:Q99567, NCBI Gene:4927, OMIM:602552, RefSeq DNA:NT_010718, RefSeq Protein:NP_002523, RefSeq RNA:NM_002532, UCSC Genome Browser:NM_002532, UniProtKB:Q99567 No chr17 5289346 5323400 5384833 5419739 +PA134912759 9688 HGNC:28958 ENSG00000102900 nucleoporin 93 NUP93 nuclear pore complex protein Nup93, nucleoporin 93kDa KIAA0095 Yes No Comparative Toxicogenomics Database:9688, Ensembl:ENSG00000102900, GeneCard:NUP93, HGNC:HGNC:28958, HumanCyc Gene:HS12499, NCBI Gene:9688, RefSeq DNA:NT_010498, RefSeq Protein:NP_001229724, RefSeq Protein:NP_001229725, RefSeq Protein:NP_055484, RefSeq RNA:NM_001242795, RefSeq RNA:NM_001242796, RefSeq RNA:NM_014669, UniProtKB:B3KPQ8, UniProtKB:Q8N1F7 No chr16 56764017 56882637 56730105 56844950 +PA31856 4928 HGNC:8068 ENSG00000110713 nucleoporin 98 and 96 precursor NUP98 Nuclear pore complex protein Nup98-Nup96, nucleoporin 96, nucleoporin 98, nucleoporin 98kDa NUP196, NUP96, Nup98-96, Nup98-Nup96 Yes No Comparative Toxicogenomics Database:4928, Ensembl:ENSG00000110713, GenAtlas:NUP98, GeneCard:NUP98, HGNC:HGNC:8068, HumanCyc Gene:HS03331, ModBase:Q9Y6J4, NCBI Gene:4928, OMIM:601021, RefSeq DNA:NT_009237, RefSeq Protein:NP_005378, RefSeq Protein:NP_057404, RefSeq Protein:NP_624357, RefSeq Protein:NP_624358, RefSeq RNA:NM_005387, RefSeq RNA:NM_016320, RefSeq RNA:NM_139131, RefSeq RNA:NM_139132, UCSC Genome Browser:NM_005387, UniProtKB:P52948 No chr11 3696240 3819022 3675010 3797792 +PA165450395 26471 HGNC:29990 ENSG00000176046 nuclear protein 1, transcriptional regulator NUPR1 """candidate of metastasis 1"", ""nuclear protein, transcriptional regulator, 1""" COM1, p8 Yes No Ensembl:ENSG00000176046, GeneCard:NUPR1, HGNC:HGNC:29990, HumanCyc Gene:HS10992, NCBI Gene:26471, RefSeq DNA:NT_010393, RefSeq Protein:NP_001035948, RefSeq Protein:NP_036517, RefSeq RNA:NM_001042483, RefSeq RNA:NM_012385, UniProtKB:O60356 No chr16 28548662 28550495 28537341 28539174 +PA166049111 389493 HGNC:44164 ENSG00000185290 nuclear protein 2, transcriptional regulator NUPR2 nuclear protein, transcriptional regulator, 1-like NUPR1L, P8 Yes No Ensembl:ENSG00000185290, HGNC:HGNC:44164, NCBI Gene:389493 No chr7 56182374 56184090 56114681 56116397 +PA162398248 116150 HGNC:21042 ENSG00000153989 NUS1 dehydrodolichyl diphosphate synthase subunit NUS1 """NUS1, dehydrodolichyl diphosphate synthase subunit"", ""Nogo-B receptor"", ""nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)"", ""transport and golgi organization 14 homolog (Drosophila)""" C6orf68, MGC7199, NgBR, TANGO14 Yes No Ensembl:ENSG00000153989, GeneCard:NUS1, HGNC:HGNC:21042, HumanCyc Gene:HS14498, ModBase:Q96E22, NCBI Gene:116150, OMIM:610463, RefSeq DNA:NT_025741, RefSeq Protein:NP_612468, RefSeq RNA:NM_138459, UniProtKB:Q96E22 No chr6 117996617 118031890 117675454 117710727 +PA134987502 51203 HGNC:18538 ENSG00000137804 nucleolar and spindle associated protein 1 NUSAP1 ANKT, BM037, FLJ13421, LNP, NuSAP1, PRO0310p1, Q0310, SAPL Yes No Comparative Toxicogenomics Database:51203, Ensembl:ENSG00000137804, GeneCard:NUSAP1, HGNC:HGNC:18538, HumanCyc Gene:HS06397, NCBI Gene:51203, OMIM:612818, RefSeq DNA:NT_010194, RefSeq Protein:NP_001123369, RefSeq Protein:NP_057443, RefSeq Protein:NP_060924, RefSeq RNA:NM_001129897, RefSeq RNA:NM_016359, RefSeq RNA:NM_018454, UniProtKB:Q9BXS6 No chr15 41624892 41673248 41332694 41381050 +PA38365 10204 HGNC:13722 ENSG00000102898 nuclear transport factor 2 NUTF2 NTF2, PP15 Yes No Comparative Toxicogenomics Database:10204, Ensembl:ENSG00000102898, GenAtlas:NUTF2, GeneCard:NUTF2, HGNC:HGNC:13722, HumanCyc Gene:HS02425, ModBase:P61970, NCBI Gene:10204, OMIM:605813, RefSeq DNA:NT_010498, RefSeq Protein:NP_005787, RefSeq RNA:NM_005796, UCSC Genome Browser:NM_005796, UniProtKB:P61970 No chr16 67880819 67906470 67846732 67872567 +PA134939639 326613 HGNC:19934 ENSG00000258300 nuclear transport factor 2 pseudogene 2 NUTF2P2 Yes No Ensembl:ENSG00000258300, GeneCard:NUTF2P2, HGNC:HGNC:19934, NCBI Gene:326613, RefSeq DNA:NG_002603, RefSeq DNA:NT_026437 No chr14 36288964 36289815 35819758 35820614 +PA162378206 256646 HGNC:29919 ENSG00000184507 NUT midline carcinoma family member 1 NUTM1 """NUT midline carcinoma, family member 1"", ""nuclear protein in testis""" C15orf55, DKFZp434O192, FAM22H, NUT Yes No Ensembl:ENSG00000184507, GeneCard:C15orf55, HGNC:HGNC:29919, ModBase:Q86Y26, NCBI Gene:256646, OMIM:608963, RefSeq DNA:NT_010194, RefSeq Protein:NP_786883, RefSeq RNA:NM_175741, UniProtKB:Q86Y26 No chr15 34635458 34649936 34343315 34357737 +PA134875735 728118 HGNC:23438 ENSG00000184923 NUT family member 2A NUTM2A FAM22A Yes No Ensembl:ENSG00000184923, GeneCard:FAM22A, HGNC:HGNC:23438, NCBI Gene:728118, RefSeq DNA:NT_030059, RefSeq Protein:NP_001092808, RefSeq RNA:NM_001099338, UniProtKB:Q8IVF1 No chr10 88983616 88995645 87221899 87235372 +PA134908712 729262 HGNC:23445 ENSG00000188199 NUT family member 2B NUTM2B FAM22B, bA119F19.1 Yes No Ensembl:ENSG00000188199, GeneCard:FAM22B, HGNC:HGNC:23445, ModBase:A6NNL0, NCBI Gene:729262, RefSeq DNA:NG_012780, RefSeq DNA:NT_030059, RefSeq Protein:XP_001133075, RefSeq RNA:XM_001133075, UniProtKB:A6NNL0 No chr10 81460192 81472722 79703227 79712757 +PA134912178 728130 HGNC:23447 ENSG00000214562 NUT family member 2D NUTM2D FAM22D Yes No Ensembl:ENSG00000214562, GeneCard:FAM22D, HGNC:HGNC:23447, NCBI Gene:728130, RefSeq DNA:NT_030059, RefSeq Protein:NP_001009610, RefSeq RNA:NM_001009610, UniProtKB:Q5VT03 No chr10 89117477 89130452 87357720 87370695 +PA134988973 283008 HGNC:23448 ENSG00000228570 NUT family member 2E NUTM2E FAM22E Yes No Ensembl:ENSG00000228570, GeneCard:FAM22E, HGNC:HGNC:23448, NCBI Gene:283008, RefSeq DNA:NG_012781, RefSeq DNA:NT_030059, RefSeq Protein:XP_002343042, RefSeq Protein:XP_930996, RefSeq RNA:XM_002343001, RefSeq RNA:XM_925903, UniProtKB:B1AL46 No chr10 81601114 81610632 79841358 79850876 +PA134981634 54754 HGNC:23450 ENSG00000130950 NUT family member 2F NUTM2F DKFZp434I1117, FAM22F Yes No Ensembl:ENSG00000130950, GeneCard:FAM22F, HGNC:HGNC:23450, ModBase:A1L443, NCBI Gene:54754, RefSeq DNA:NT_008470, RefSeq Protein:NP_060031, RefSeq RNA:NM_017561, UniProtKB:A1L443 No chr9 97080478 97090926 94318196 94328644 +PA134899635 441457 HGNC:23449 ENSG00000188152 NUT family member 2G NUTM2G FAM22G Yes No Ensembl:ENSG00000188152, GeneCard:FAM22G, HGNC:HGNC:23449, NCBI Gene:441457, RefSeq DNA:NT_008470, RefSeq Protein:NP_001038942, RefSeq Protein:NP_001164212, RefSeq RNA:NM_001045477, RefSeq RNA:NM_001170741, UniProtKB:Q5VZR2 No chr9 99691286 99704572 96929004 96942290 +PA31857 4931 HGNC:8070 ENSG00000143748 nuclear VCP like NVL Nuclear valosin-containing protein-like, nuclear VCP-like, nuclear VCP-like protein NVL2 Yes No Comparative Toxicogenomics Database:4931, Ensembl:ENSG00000143748, GenAtlas:NVL, GeneCard:NVL, HGNC:HGNC:8070, HumanCyc Gene:HS07098, ModBase:O15381, NCBI Gene:4931, OMIM:602426, RefSeq DNA:NT_167186, RefSeq Protein:NP_002524, RefSeq Protein:NP_996671, RefSeq RNA:NM_002533, RefSeq RNA:NM_206840, UCSC Genome Browser:NM_002533, UniProtKB:O15381 No chr1 224415036 224517891 224227334 224330201 +PA162398263 284434 HGNC:27619 ENSG00000188039 NACHT and WD repeat domain containing 1 NWD1 Yes No Ensembl:ENSG00000188039, GeneCard:NWD1, HGNC:HGNC:27619, NCBI Gene:284434, RefSeq DNA:NT_011295, RefSeq Protein:NP_001007526, RefSeq RNA:NM_001007525, UniProtKB:C9J2Y8 No chr19 16830787 16928774 16719526 16817963 +PA145148614 57495 HGNC:29229 ENSG00000174145 NACHT and WD repeat domain containing 2 NWD2 KIAA1239 Yes No Ensembl:ENSG00000174145, GeneCard:KIAA1239, HGNC:HGNC:29229, NCBI Gene:57495, RefSeq DNA:NT_016297, RefSeq Protein:NP_001138462, RefSeq RNA:NM_001144990, UniProtKB:Q9ULI1 No chr4 +PA31858 10482 HGNC:8071 ENSG00000162231 nuclear RNA export factor 1 NXF1 tip associating protein DKFZp667O0311, Mex67, TAP Yes No Comparative Toxicogenomics Database:10482, Ensembl:ENSG00000162231, GenAtlas:NXF1, GeneCard:NXF1, HGNC:HGNC:8071, HumanCyc Gene:HS08651, ModBase:Q9UBU9, NCBI Gene:10482, OMIM:602647, RefSeq DNA:NT_167190, RefSeq Protein:NP_001074960, RefSeq Protein:NP_006353, RefSeq RNA:NM_001081491, RefSeq RNA:NM_006362, UCSC Genome Browser:NM_006362, UniProtKB:B4E269, UniProtKB:Q59E96, UniProtKB:Q9UBU9 No chr11 62559597 62572964 62792125 62805492 +PA31859 56001 HGNC:8072 ENSG00000185554, ENSG00000185945 nuclear RNA export factor 2 NXF2 TAP like protein 2, cancer/testis antigen 39 CT39, TAPL-2 Yes No Ensembl:ENSG00000185554, Ensembl:ENSG00000185945, GenAtlas:NXF2, GeneCard:NXF2, HGNC:HGNC:8072, HumanCyc Gene:HS07409, NCBI Gene:56001, OMIM:300315, RefSeq DNA:NT_011651, RefSeq Protein:NP_060279, RefSeq Protein:NP_071336, RefSeq RNA:NM_017809, RefSeq RNA:NM_022053, UCSC Genome Browser:NM_017809 No chrX 101502094 101581634 102247100 102326720 +PA162398310 728343 HGNC:23984 ENSG00000269437 nuclear RNA export factor 2B NXF2B bA353J17.1 Yes No Ensembl:ENSG00000269437, GeneCard:NXF2B, HGNC:HGNC:23984, NCBI Gene:728343, RefSeq DNA:NT_011651, RefSeq Protein:NP_001093156, RefSeq RNA:NM_001099686, UniProtKB:Q9GZY0 No chrX 101615316 101694929 102360395 102440008 +PA31860 56000 HGNC:8073 ENSG00000147206 nuclear RNA export factor 3 NXF3 Yes No Ensembl:ENSG00000147206, GenAtlas:NXF3, GeneCard:NXF3, HGNC:HGNC:8073, ModBase:Q9H4D5, NCBI Gene:56000, OMIM:300316, RefSeq DNA:NG_012572, RefSeq DNA:NT_011651, RefSeq Protein:NP_071335, RefSeq RNA:NM_022052, UCSC Genome Browser:NM_022052, UniProtKB:Q9H4D5 No chrX 102330749 102348022 103075821 103093094 +PA31861 55999 HGNC:8074 ENSG00000196970 nuclear RNA export factor 4 pseudogene NXF4 Yes No Ensembl:ENSG00000196970, GenAtlas:NXF4, GeneCard:NXF4, HGNC:HGNC:8074, NCBI Gene:55999, OMIM:300318, RefSeq DNA:NT_011651, RefSeq RNA:NR_002216 No chrX 101804893 101826621 102549965 102571693 +PA31862 55998 HGNC:8075 ENSG00000126952 nuclear RNA export factor 5 NXF5 Yes No Ensembl:ENSG00000126952, GenAtlas:NXF5, GeneCard:NXF5, HGNC:HGNC:8075, HumanCyc Gene:HS05064, ModBase:Q9H1B3, NCBI Gene:55998, OMIM:300319, RefSeq DNA:NG_009851, RefSeq DNA:NT_011651, RefSeq Protein:NP_116564, RefSeq RNA:NM_032946, RefSeq RNA:NR_028089, UCSC Genome Browser:NM_032946, UniProtKB:A2RRM0, UniProtKB:Q9H1B4 No chrX 101087085 101112549 101832112 101857577 +PA31863 64359 HGNC:18008 ENSG00000167693 nucleoredoxin NXN FLJ12614, NRX Yes No Comparative Toxicogenomics Database:64359, Ensembl:ENSG00000167693, GenAtlas:NXN, GeneCard:NXN, HGNC:HGNC:18008, HumanCyc Gene:HS15588, ModBase:Q6DKJ4, NCBI Gene:64359, OMIM:612895, RefSeq DNA:NT_010718, RefSeq Protein:NP_001192248, RefSeq Protein:NP_071908, RefSeq RNA:NM_001205319, RefSeq RNA:NM_022463, UCSC Genome Browser:NM_022463, UniProtKB:Q6DKJ4 No chr17 702553 883017 799313 979766 +PA162398383 115861 HGNC:25179 ENSG00000171773 nucleoredoxin like 1 NXNL1 nucleoredoxin-like 1, rod-derived cone viability factor RDCVF, TXNL6 Yes No Ensembl:ENSG00000171773, GeneCard:NXNL1, HGNC:HGNC:25179, HumanCyc Gene:HS10377, ModBase:Q96CM4, NCBI Gene:115861, OMIM:608791, RefSeq DNA:NT_011295, RefSeq Protein:NP_612463, RefSeq RNA:NM_138454, UniProtKB:Q96CM4 No chr19 17566234 17571725 17455425 17460916 +PA162398384 158046 HGNC:30482 ENSG00000130045 nucleoredoxin like 2 NXNL2 nucleoredoxin-like 2, rod-derived cone viability factor 2 C9orf121, RdCVF2 Yes No Ensembl:ENSG00000130045, GeneCard:NXNL2, HGNC:HGNC:30482, HumanCyc Gene:HS13317, ModBase:Q5VZ03, NCBI Gene:158046, RefSeq DNA:NT_008470, RefSeq Protein:NP_001155097, RefSeq Protein:NP_660326, RefSeq RNA:NM_001161625, RefSeq RNA:NM_145283, UniProtKB:B1AMD0, UniProtKB:Q5VZ03 No chr9 91149203 91190704 88535088 88584510 +PA134910690 120400 HGNC:28527 ENSG00000095110 neurexophilin and PC-esterase domain family member 1 NXPE1 neurexophilin and PC-esterase domain family, member 1 FAM55A, MGC34290 Yes No Ensembl:ENSG00000095110, GeneCard:FAM55A, HGNC:HGNC:28527, HumanCyc Gene:HS12352, NCBI Gene:120400, RefSeq DNA:NT_033899, RefSeq Protein:NP_689528, RefSeq RNA:NM_152315, UniProtKB:Q8N323 No chr11 114392423 114430580 114518946 114560244 +PA134861439 120406 HGNC:26331 ENSG00000204361 neurexophilin and PC-esterase domain family member 2 NXPE2 neurexophilin and PC-esterase domain family, member 2 FAM55B, FLJ25224 Yes No Ensembl:ENSG00000204361, GeneCard:FAM55B, HGNC:HGNC:26331, ModBase:Q96DL1, NCBI Gene:120406, RefSeq DNA:NT_033899, RefSeq Protein:NP_872301, RefSeq RNA:NM_182495, UniProtKB:A6NFP8 No chr11 114549200 114579357 114464276 114813702 +PA134977295 91775 HGNC:28238 ENSG00000144815 neurexophilin and PC-esterase domain family member 3 NXPE3 neurexophilin and PC-esterase domain family, member 3 FAM55C, MGC15606 Yes No Ensembl:ENSG00000144815, GeneCard:FAM55C, HGNC:HGNC:28238, HumanCyc Gene:HS14054, ModBase:Q969Y0, NCBI Gene:91775, RefSeq DNA:NT_005612, RefSeq Protein:NP_001127928, RefSeq Protein:NP_659474, RefSeq RNA:NM_001134456, RefSeq RNA:NM_145037, UniProtKB:Q969Y0 No chr3 101498029 101547075 101779185 101828231 +PA134871713 54827 HGNC:23117 ENSG00000137634 neurexophilin and PC-esterase domain family member 4 NXPE4 neurexophilin and PC-esterase domain family, member 4 C11orf33, FAM55D, FLJ20127 Yes No Ensembl:ENSG00000137634, GeneCard:FAM55D, HGNC:HGNC:23117, HumanCyc Gene:HS13688, ModBase:Q6UWF7, NCBI Gene:54827, RefSeq DNA:NT_033899, RefSeq Protein:NP_001071107, RefSeq Protein:NP_060148, RefSeq RNA:NM_001077639, RefSeq RNA:NM_017678, UniProtKB:Q6UWF7 No chr11 114441313 114466484 114570591 114596215 +PA134961263 30010 HGNC:20693 ENSG00000122584 neurexophilin 1 NXPH1 Yes No Ensembl:ENSG00000122584, GeneCard:NXPH1, HGNC:HGNC:20693, HumanCyc Gene:HS13062, ModBase:P58417, NCBI Gene:30010, OMIM:604639, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_689958, RefSeq RNA:NM_152745, UniProtKB:P58417, UniProtKB:Q3LID8 No chr7 8473585 8792593 8433955 8752963 +PA31864 11249 HGNC:8076 ENSG00000144227 neurexophilin 2 NXPH2 NPH2 Yes No Ensembl:ENSG00000144227, GenAtlas:NXPH2, GeneCard:NXPH2, HGNC:HGNC:8076, HumanCyc Gene:HS07158, ModBase:O95156, NCBI Gene:11249, OMIM:604635, RefSeq DNA:NT_022135, RefSeq Protein:NP_009157, RefSeq RNA:NM_007226, UniProtKB:O95156 No chr2 139426727 139537811 138669157 138780241 +PA31865 11248 HGNC:8077 ENSG00000182575 neurexophilin 3 NXPH3 NPH3 Yes No Comparative Toxicogenomics Database:11248, Ensembl:ENSG00000182575, GenAtlas:NXPH3, GeneCard:NXPH3, HGNC:HGNC:8077, NCBI Gene:11248, OMIM:604636, RefSeq DNA:NT_010783, RefSeq Protein:NP_009156, RefSeq RNA:NM_007225, UCSC Genome Browser:NM_007225, UniProtKB:O95157 No chr17 47653298 47661172 49575936 49583810 +PA31866 11247 HGNC:8078 ENSG00000182379 neurexophilin 4 NXPH4 NPH4 Yes No Comparative Toxicogenomics Database:11247, Ensembl:ENSG00000182379, GenAtlas:NXPH4, GeneCard:NXPH4, HGNC:HGNC:8078, NCBI Gene:11247, OMIM:604637, RefSeq DNA:NT_029419, RefSeq Protein:NP_009155, RefSeq RNA:NM_007224, UniProtKB:O95158 No chr12 57610578 57620232 57216795 57226449 +PA31867 29107 HGNC:15913 ENSG00000132661 nuclear transport factor 2 like export factor 1 NXT1 NTF2-like export factor 1, nuclear transport factor 2-like export factor 1 MTR2, P15 Yes No Comparative Toxicogenomics Database:29107, Ensembl:ENSG00000132661, GenAtlas:NXT1, GeneCard:NXT1, HGNC:HGNC:15913, HumanCyc Gene:HS05668, ModBase:Q9UKK6, NCBI Gene:29107, OMIM:605811, RefSeq DNA:NT_011387, RefSeq Protein:NP_037380, RefSeq RNA:NM_013248, UCSC Genome Browser:NM_013248, UniProtKB:Q9UKK6 No chr20 23331373 23335408 23350736 23354772 +PA134928861 55916 HGNC:18151 ENSG00000101888 nuclear transport factor 2 like export factor 2 NXT2 nuclear transport factor 2-like export factor 2 P15-2 Yes No Comparative Toxicogenomics Database:55916, Ensembl:ENSG00000101888, GeneCard:NXT2, HGNC:HGNC:18151, HumanCyc Gene:HS02313, ModBase:Q9NPJ8, NCBI Gene:55916, OMIM:300320, RefSeq DNA:NT_011651, RefSeq Protein:NP_001229546, RefSeq Protein:NP_001229547, RefSeq Protein:NP_061168, RefSeq RNA:NM_001242617, RefSeq RNA:NM_001242618, RefSeq RNA:NM_018698, UniProtKB:Q9NPJ8 No chrX 108779010 108787927 109535781 109544698 +PA162380561 222950 HGNC:22009 ENSG00000166924 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 NYAP1 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 C7orf51, FLJ37538, KIAA1486L Yes No Ensembl:ENSG00000166924, GeneCard:C7orf51, HGNC:HGNC:22009, HumanCyc Gene:HS15503, ModBase:Q6ZVC0, NCBI Gene:222950, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_775835, RefSeq RNA:NM_173564, UniProtKB:Q6ZVC0 No chr7 100081550 100092425 100483872 100494802 +PA165696738 57624 HGNC:29291 ENSG00000144460 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 NYAP2 KIAA1486 Yes No Ensembl:ENSG00000144460, GeneCard:KIAA1486, HGNC:HGNC:29291, NCBI Gene:57624, RefSeq DNA:NT_005403, RefSeq Protein:NP_065915, RefSeq RNA:NM_020864, UniProtKB:Q9P242 No chr2 226264426 226518734 225399710 225703653 +PA165479228 57523 HGNC:20165 ENSG00000205978 NYN domain and retroviral integrase containing NYNRIN Cousin of GIN1 CGIN1, FLJ11811, KIAA1305 Yes No Ensembl:ENSG00000205978, GeneCard:NYNRIN, HGNC:HGNC:20165, ModBase:Q9P2P1, NCBI Gene:57523, RefSeq DNA:NT_026437, RefSeq Protein:NP_079357, RefSeq RNA:NM_025081, RefSeq RNA:XM_370756, RefSeq RNA:XM_940150, UniProtKB:Q9P2P1 No chr14 24867992 24888494 24398786 24419288 +PA31871 60506 HGNC:8082 ENSG00000188937 nyctalopin NYX CLRP, CSNB1, CSNB1A, CSNB4 Yes No Comparative Toxicogenomics Database:60506, Ensembl:ENSG00000188937, GenAtlas:NYX, GeneCard:NYX, HGNC:HGNC:8082, ModBase:Q9GZU5, NCBI Gene:60506, OMIM:300278, OMIM:310500, RefSeq DNA:NG_009112, RefSeq DNA:NT_079573, RefSeq Protein:NP_072089, RefSeq RNA:NM_022567, UCSC Genome Browser:NM_022567, UniProtKB:Q9GZU5 No chrX 41306713 41334905 41447460 41476414 +PA142671234 220323 HGNC:28752 ENSG00000184232 out at first homolog OAF OAF homolog (Drosophila) MGC52117 Yes No Comparative Toxicogenomics Database:220323, Ensembl:ENSG00000184232, GeneCard:OAF, HGNC:HGNC:28752, ModBase:Q86UD1, NCBI Gene:220323, RefSeq DNA:NT_033899, RefSeq Protein:NP_848602, RefSeq RNA:NM_178507, UniProtKB:Q86UD1 No chr11 120081747 120100650 120211039 120229941 +PA134879529 221443 HGNC:21257 ENSG00000124596 O-acyl-ADP-ribose deacylase 1 OARD1 terminal ADP-ribose protein glycohydrolase 1 C6orf130, MGC19570, TARG1, dJ34B21.3 Yes No Ensembl:ENSG00000124596, GeneCard:C6orf130, HGNC:HGNC:21257, HumanCyc Gene:HS13138, ModBase:Q9Y530, NCBI Gene:221443, RefSeq DNA:NT_007592, RefSeq Protein:NP_659500, RefSeq RNA:NM_145063, UniProtKB:Q9Y530 No chr6 41034526 41040207 41066792 41072449 +PA31875 4938 HGNC:8086 ENSG00000089127 2'-5'-oligoadenylate synthetase 1 OAS1 """2'-5' oligoadenylate synthase 1"", ""2'-5'-oligoadenylate synthetase 1, 40/46kDa""" IFI-4, OIAS, OIASI Yes Yes Comparative Toxicogenomics Database:4938, Ensembl:ENSG00000089127, GenAtlas:OAS1, GeneCard:OAS1, HGNC:HGNC:8086, HumanCyc Gene:HS01635, ModBase:Q16701, NCBI Gene:4938, OMIM:164350, OMIM:222100, RefSeq DNA:NG_011530, RefSeq DNA:NT_009775, RefSeq Protein:NP_001027581, RefSeq Protein:NP_002525, RefSeq Protein:NP_058132, RefSeq RNA:NM_001032409, RefSeq RNA:NM_002534, RefSeq RNA:NM_016816, UCSC Genome Browser:NM_002534, UniProtKB:P00973 No chr12 113344739 113357712 112906777 112932190 +PA31876 4939 HGNC:8087 ENSG00000111335 2'-5'-oligoadenylate synthetase 2 OAS2 2'-5'-oligoadenylate synthetase 2, 69/71kDa Yes No Comparative Toxicogenomics Database:4939, Ensembl:ENSG00000111335, GenAtlas:OAS2, GeneCard:OAS2, HGNC:HGNC:8087, HumanCyc Gene:HS03404, ModBase:P29728, NCBI Gene:4939, OMIM:603350, RefSeq DNA:NT_009775, RefSeq Protein:NP_001027903, RefSeq Protein:NP_002526, RefSeq Protein:NP_058197, RefSeq RNA:NM_001032731, RefSeq RNA:NM_002535, RefSeq RNA:NM_016817, UCSC Genome Browser:NM_002535, UniProtKB:P29728, UniProtKB:Q6PJ33, UniProtKB:Q7Z6D0 No chr12 113416274 113449528 112978395 113011723 +PA31877 4940 HGNC:8088 ENSG00000111331 2'-5'-oligoadenylate synthetase 3 OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa Yes No Ensembl:ENSG00000111331, GenAtlas:OAS3, GeneCard:OAS3, HGNC:HGNC:8088, HumanCyc Gene:HS03402, ModBase:Q9Y6K5, NCBI Gene:4940, OMIM:603351, RefSeq DNA:NT_009775, RefSeq Protein:NP_006178, RefSeq RNA:NM_006187, UCSC Genome Browser:NM_006187, UniProtKB:Q9Y6K5 No chr12 113376249 113411056 112938433 112973251 +PA31879 8638 HGNC:8090 ENSG00000135114 2'-5'-oligoadenylate synthetase like OASL 2'-5'-oligoadenylate synthetase-like OASL1, TRIP14, p59OASL Yes Yes Comparative Toxicogenomics Database:8638, Ensembl:ENSG00000135114, GenAtlas:OASL, GeneCard:OASL, HGNC:HGNC:8090, HumanCyc Gene:HS05957, ModBase:Q15646, NCBI Gene:8638, OMIM:603281, RefSeq DNA:NT_009775, RefSeq Protein:NP_003724, RefSeq Protein:NP_937856, RefSeq RNA:NM_003733, RefSeq RNA:NM_198213, UCSC Genome Browser:NM_003733, UniProtKB:B3KN79, UniProtKB:Q15646 No chr12 121458095 121477045 121018882 121039242 +PA31880 4942 HGNC:8091 ENSG00000065154 ornithine aminotransferase OAT Ornithine aminotransferase, gyrate atrophy, ornithine aminotransferase precursor HOGA Yes No Comparative Toxicogenomics Database:4942, Ensembl:ENSG00000065154, GenAtlas:OAT, GeneCard:OAT, HGNC:HGNC:8091, HumanCyc Gene:HS00832, ModBase:P04181, NCBI Gene:4942, OMIM:258870, OMIM:613349, RefSeq DNA:NG_008861, RefSeq DNA:NT_030059, RefSeq Protein:NP_000265, RefSeq Protein:NP_001165285, RefSeq RNA:NM_000274, RefSeq RNA:NM_001171814, UCSC Genome Browser:NM_000274, UniProtKB:P04181, UniProtKB:Q68CS0 No chr10 126085872 126107545 124397303 124418976 +PA31883 4945 HGNC:8094 ornithine aminotransferase pseudogene 1 OATP1 Yes No GenAtlas:OATL3, GeneCard:OATP1, HGNC:HGNC:8094, NCBI Gene:4945, RefSeq DNA:NG_001169, RefSeq DNA:NT_030059 No chr10 126132353 126132812 124443784 124444243 +PA31884 4946 HGNC:8095 ENSG00000104904 ornithine decarboxylase antizyme 1 OAZ1 antizyme 1 AZ1, AZI, MGC138338, OAZ Yes No Comparative Toxicogenomics Database:4946, Ensembl:ENSG00000104904, GenAtlas:OAZ1, GeneCard:OAZ1, HGNC:HGNC:8095, HumanCyc Gene:HS02652, ModBase:P54368, NCBI Gene:4946, OMIM:601579, RefSeq DNA:NT_011255, RefSeq Protein:NP_004143, RefSeq RNA:NM_004152, UCSC Genome Browser:NM_004152, UniProtKB:P54368 No chr19 2269520 2273487 2269486 2273488 +PA31885 4947 HGNC:8096 ENSG00000180304 ornithine decarboxylase antizyme 2 OAZ2 Yes No Comparative Toxicogenomics Database:4947, Ensembl:ENSG00000180304, GenAtlas:OAZ2, GeneCard:OAZ2, HGNC:HGNC:8096, ModBase:O95190, NCBI Gene:4947, OMIM:604152, RefSeq DNA:NT_010194, RefSeq Protein:NP_002528, RefSeq RNA:NM_002537, UCSC Genome Browser:NM_002537, UniProtKB:O95190 No chr15 64979773 64995462 64687574 64703281 +PA31886 51686 HGNC:8097 ENSG00000143450 ornithine decarboxylase antizyme 3 OAZ3 Yes No Comparative Toxicogenomics Database:51686, Ensembl:ENSG00000143450, GenAtlas:OAZ3, GeneCard:OAZ3, HGNC:HGNC:8097, HumanCyc Gene:HS07058, ModBase:Q9UMX2, NCBI Gene:51686, OMIM:605138, RefSeq DNA:NT_004487, RefSeq Protein:NP_001128411, RefSeq Protein:NP_057262, RefSeq RNA:NM_001134939, RefSeq RNA:NM_016178, UCSC Genome Browser:NM_016178, UniProtKB:Q6GMR0, UniProtKB:Q9UMX2 No chr1 151735445 151743806 151762969 151771330 +PA166351991 79596 HGNC:20308 ORC ubiquitin ligase 1 OBI1 C13orf7, FLJ13449, RNF219 Yes No HGNC:HGNC:20308, NCBI Gene:79596 No 0 0 0 0 +PA134915019 29991 HGNC:23380 ENSG00000122136 odorant binding protein 2A OBP2A LCN13, OBP, hOBPIIa Yes No Comparative Toxicogenomics Database:29991, Ensembl:ENSG00000122136, GeneCard:OBP2A, HGNC:HGNC:23380, HumanCyc Gene:HS04548, ModBase:Q9NY56, NCBI Gene:29991, OMIM:164320, RefSeq DNA:NT_019501, RefSeq Protein:NP_055397, RefSeq RNA:NM_014582, UniProtKB:Q9NY56 No chr9 138437885 138441815 135544812 135549969 +PA134883553 29989 HGNC:23381 ENSG00000171102 odorant binding protein 2B OBP2B LCN14, hOBPIIb Yes No Comparative Toxicogenomics Database:29989, Ensembl:ENSG00000171102, GeneCard:OBP2B, HGNC:HGNC:23381, HumanCyc Gene:HS10242, ModBase:Q9NPH6, NCBI Gene:29989, OMIM:604606, RefSeq DNA:NT_035014, RefSeq Protein:NP_055396, RefSeq RNA:NM_014581, UniProtKB:Q9NPH6 No chr9 136080666 136084714 133205279 133223255 +PA31888 84033 HGNC:15719 ENSG00000154358 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF OBSCN ARHGEF30, KIAA1556, KIAA1639, UNC89 Yes No Ensembl:ENSG00000154358, GenAtlas:OBSCN, GeneCard:OBSCN, HGNC:HGNC:15719, HumanCyc Gene:HS07976, NCBI Gene:84033, OMIM:608616, RefSeq DNA:NT_167186, RefSeq Protein:NP_001092093, RefSeq Protein:NP_443075, RefSeq RNA:NM_001098623, RefSeq RNA:NM_052843, UniProtKB:Q5VST9 No chr1 228395740 228566577 228208013 228381431 +PA142671235 23363 HGNC:29092 ENSG00000124006 obscurin like cytoskeletal adaptor 1 OBSL1 obscurin like 1, obscurin-like 1 KIAA0657 Yes No Comparative Toxicogenomics Database:23363, Ensembl:ENSG00000124006, GeneCard:OBSL1, HGNC:HGNC:29092, NCBI Gene:23363, OMIM:610991, OMIM:612921, RefSeq DNA:NG_016977, RefSeq DNA:NT_005403, RefSeq Protein:NP_001166879, RefSeq Protein:NP_001166902, RefSeq Protein:NP_056126, RefSeq RNA:NM_001173408, RefSeq RNA:NM_001173431, RefSeq RNA:NM_015311, UniProtKB:A4KVA4, UniProtKB:A4KVA5, UniProtKB:Q9H8B3 No chr2 220415450 220436357 219549408 219571573 +PA31889 729330 HGNC:8100 ENSG00000253117 otoconin 90 OC90 PLA2L Yes No Ensembl:ENSG00000253117, GenAtlas:OC90, GeneCard:OC90, HGNC:HGNC:8100, ModBase:Q02509, NCBI Gene:729330, OMIM:601658, RefSeq DNA:NT_008046, RefSeq Protein:NP_001073868, RefSeq RNA:NM_001080399, UniProtKB:B4DNG8 No chr8 133036467 133071627 132024220 132059380 +PA31890 4948 HGNC:8101 ENSG00000104044 OCA2 melanosomal transmembrane protein OCA2 P-protein, melanocyte-specific transporter protein, oculocutaneous albinism II BEY, BEY1, BEY2, D15S12, EYCL, EYCL2, EYCL3, HCL3, P Yes No Comparative Toxicogenomics Database:4948, Ensembl:ENSG00000104044, GenAtlas:OCA2, GeneCard:OCA2, HGNC:HGNC:8101, HumanCyc Gene:HS02540, ModBase:Q04671, NCBI Gene:4948, OMIM:203200, OMIM:227220, OMIM:611409, RefSeq DNA:NG_009846, RefSeq DNA:NT_026446, RefSeq Protein:NP_000266, RefSeq RNA:NM_000275, UCSC Genome Browser:NM_000275, UniProtKB:Q04671 No chr15 28000021 28344483 27719008 28099342 +PA162398385 79629 HGNC:26221 ENSG00000099330 occludin/ELL domain containing 1 OCEL1 FLJ22709 Yes No Ensembl:ENSG00000099330, GeneCard:OCEL1, HGNC:HGNC:26221, HumanCyc Gene:HS12368, ModBase:Q9H607, NCBI Gene:79629, RefSeq DNA:NT_011295, RefSeq Protein:NP_078854, RefSeq RNA:NM_024578, UniProtKB:Q9H607 No chr19 17337040 17340028 17226204 17229219 +PA134898158 54940 HGNC:16074 ENSG00000109180 OCIA domain containing 1 OCIAD1 ovarian cancer immunoreactive antigen domain containing 1 , ovarian cancer immunoreactive antigen domain containing 1  Asrij, FLJ20455, OCIA, TPA018 Yes No Comparative Toxicogenomics Database:54940, Ensembl:ENSG00000109180, GeneCard:OCIAD1, HGNC:HGNC:16074, HumanCyc Gene:HS12688, ModBase:Q9NX40, NCBI Gene:54940, RefSeq DNA:NT_006238, RefSeq Protein:NP_001073308, RefSeq Protein:NP_001073309, RefSeq Protein:NP_001073310, RefSeq Protein:NP_001073311, RefSeq Protein:NP_001161726, RefSeq Protein:NP_060300, RefSeq RNA:NM_001079839, RefSeq RNA:NM_001079840, RefSeq RNA:NM_001079841, RefSeq RNA:NM_001079842, RefSeq RNA:NM_001168254, RefSeq RNA:NM_017830, UniProtKB:C9K030, UniProtKB:Q9NX40 No chr4 48832599 48863834 48831043 48861817 +PA128394755 132299 HGNC:28685 ENSG00000145247 OCIA domain containing 2 OCIAD2 ovarian cancer immunoreactive antigen domain containing 2 MGC45416 Yes No Comparative Toxicogenomics Database:132299, Ensembl:ENSG00000145247, GeneCard:OCIAD2, HGNC:HGNC:28685, HumanCyc Gene:HS14079, NCBI Gene:132299, RefSeq DNA:NT_006238, RefSeq Protein:NP_001014446, RefSeq Protein:NP_689611, RefSeq RNA:NM_001014446, RefSeq RNA:NM_152398, UCSC Genome Browser:NM_152398, UniProtKB:Q56VL3 No chr4 48887405 48908815 48885380 48906828 +PA134875092 100287085 HGNC:31827 OCIA domain containing 2 pseudogene 1 OCIAD2P1 Yes No GeneCard:OCIAD2P1, HGNC:HGNC:31827, NCBI Gene:100287085, RefSeq DNA:NG_017000, RefSeq DNA:NT_008183 No chr8 81480200 81480813 80567965 80568578 +PA166351992 HGNC:8103 oculomedin OCLM Yes No HGNC:HGNC:8103 No 0 0 0 0 +PA31893 100506658 HGNC:8104 ENSG00000197822 occludin OCLN """phosphatase 1, regulatory subunit 115"", ""tight junction protein occludin TM4 minus""" PPP1R115 Yes No Comparative Toxicogenomics Database:4950, Ensembl:ENSG00000197822, GenAtlas:OCLN, GeneCard:OCLN, HGNC:HGNC:8104, ModBase:Q16625, NCBI Gene:100506658, OMIM:602876, RefSeq DNA:NT_006713, RefSeq Protein:NP_002529, RefSeq RNA:NM_002538, UCSC Genome Browser:NM_002538, UniProtKB:Q16625 No chr5 68788119 68853931 69492292 69558104 +PA31894 654231 HGNC:8105 ENSG00000122543 oncomodulin OCM beta parvalbumin, oncomodulin 1 OCM1 Yes No Ensembl:ENSG00000122543, GenAtlas:OCM, GeneCard:OCM, HGNC:HGNC:8105, ModBase:P32930, NCBI Gene:654231, OMIM:164795, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001091091, RefSeq RNA:NM_001097622, UCSC Genome Browser:NM_006188, UniProtKB:B9EJH7, UniProtKB:P0CE72 No chr7 5920429 5925994 5859789 5886363 +PA164724233 4951 HGNC:34396 ENSG00000135175 oncomodulin 2 OCM2 Yes No Ensembl:ENSG00000135175, GeneCard:OCM2, HGNC:HGNC:34396, HumanCyc Gene:HS04574, HumanCyc Gene:HS05964, NCBI Gene:4951, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_006179, RefSeq RNA:NM_006188, UniProtKB:P0CE71 No chr7 97614012 97619416 97984700 97990104 +PA31896 4952 HGNC:8108 ENSG00000122126 OCRL inositol polyphosphate-5-phosphatase OCRL """Dent disease 2"", ""OCRL, inositol polyphosphate-5-phosphatase"", ""oculocerebrorenal syndrome of Lowe""" Dent-2, OCRL1 Yes Yes Comparative Toxicogenomics Database:4952, Ensembl:ENSG00000122126, GenAtlas:OCRL, GeneCard:OCRL, HGNC:HGNC:8108, HumanCyc Gene:HS04546, ModBase:Q9UJG5, NCBI Gene:4952, OMIM:300009, OMIM:300535, OMIM:300555, OMIM:309000, RefSeq DNA:NG_008638, RefSeq DNA:NT_011786, RefSeq Protein:NP_000267, RefSeq Protein:NP_001578, RefSeq RNA:NM_000276, RefSeq RNA:NM_001587, UCSC Genome Browser:NM_000276, UniProtKB:Q01968 No chrX 128673826 128726533 129532737 129592561 +PA25664 128506 HGNC:16116 ENSG00000149635 osteoclast stimulatory transmembrane protein OCSTAMP C20orf123, dJ257E24.3 Yes No Ensembl:ENSG00000149635, GenAtlas:C20orf123, GeneCard:C20orf123, HGNC:HGNC:16116, HumanCyc Gene:HS14299, ModBase:Q9BR26, NCBI Gene:128506, RefSeq DNA:NT_011362, RefSeq Protein:NP_542452, RefSeq Protein:XP_002343762, RefSeq Protein:XP_002345456, RefSeq Protein:XP_002348085, RefSeq RNA:NM_080721, RefSeq RNA:XM_002343721, RefSeq RNA:XM_002345415, RefSeq RNA:XM_002348044, UniProtKB:Q9BR26 No chr20 45169670 45179213 46541031 46550574 +PA166351993 93233 HGNC:26560 outer dynein arm docking complex subunit 1 ODAD1 CCDC114, CILD20, FLJ32926 Yes No HGNC:HGNC:26560, NCBI Gene:93233 No 0 0 0 0 +PA166351994 55130 HGNC:25583 outer dynein arm docking complex subunit 2 ODAD2 ARMC4, CILD23, DKFZP434P1735, FLJ10376, FLJ10817, gudu Yes No HGNC:HGNC:25583, NCBI Gene:55130 No 0 0 0 0 +PA166351995 115948 HGNC:28303 outer dynein arm docking complex subunit 3 ODAD3 CCDC151, MGC20983, ODA10 Yes No HGNC:HGNC:28303, NCBI Gene:115948 No 0 0 0 0 +PA166351996 83538 HGNC:25280 outer dynein arm docking complex subunit 4 ODAD4 DKFZP434H0115, TTC25 Yes No HGNC:HGNC:25280, NCBI Gene:83538 No 0 0 0 0 +PA145148342 54959 HGNC:26043 ENSG00000109205 odontogenic, ameloblast associated ODAM odontogenic, ameloblast asssociated APin, FLJ20513 Yes No Ensembl:ENSG00000109205, GeneCard:ODAM, HGNC:HGNC:26043, HumanCyc Gene:HS12692, ModBase:A1E959, NCBI Gene:54959, RefSeq DNA:NT_022778, RefSeq Protein:NP_060325, RefSeq RNA:NM_017855, UniProtKB:A1E959 No chr4 71061441 71070293 70195728 70204576 +PA145008917 152816 HGNC:26300 ENSG00000174792 odontogenesis associated phosphoprotein ODAPH amelogenesis imperfecta type IIA4, chromosome 4 open reading frame 26 AI2A4, C4orf26, FLJ23657 Yes No Ensembl:ENSG00000174792, GeneCard:C4orf26, HGNC:HGNC:26300, NCBI Gene:152816, RefSeq DNA:NT_016354, RefSeq Protein:NP_001193910, RefSeq Protein:NP_848592, RefSeq RNA:NM_001206981, RefSeq RNA:NM_178497, UniProtKB:Q17RF5 No chr4 76481258 76491103 75554997 75565893 +PA31897 4953 HGNC:8109 ENSG00000115758 ornithine decarboxylase 1 ODC1 ODC Yes Yes Comparative Toxicogenomics Database:4953, Ensembl:ENSG00000115758, GenAtlas:ODC1, GeneCard:ODC1, HGNC:HGNC:8109, HumanCyc Gene:HS03935, ModBase:P11926, NCBI Gene:4953, OMIM:114500, OMIM:165640, RefSeq DNA:NG_012105, RefSeq DNA:NT_005334, RefSeq Protein:NP_002530, RefSeq RNA:NM_002539, UCSC Genome Browser:NM_002539, UniProtKB:P11926, UniProtKB:Q53TU3 No chr2 10580507 10588680 10440371 10448554 +PA31898 4954 HGNC:8110 ENSG00000244556 ornithine decarboxylase pseudogene ODCP Yes No Ensembl:ENSG00000244556, GenAtlas:ODCP, GeneCard:ODCP, HGNC:HGNC:8110, NCBI Gene:4954, RefSeq DNA:NT_007933 No chr7 128668552 128671091 129028498 129031037 +PA31901 4956 HGNC:8113 ENSG00000155087 outer dense fiber of sperm tails 1 ODF1 cancer/testis antigen 133 CT133, HSPB10, ODF27, ODFPG, RT7 Yes No Ensembl:ENSG00000155087, GenAtlas:ODF1, GeneCard:ODF1, HGNC:HGNC:8113, HumanCyc Gene:HS08027, NCBI Gene:4956, OMIM:182878, RefSeq DNA:NT_008046, RefSeq Protein:NP_077721, RefSeq RNA:NM_024410, UCSC Genome Browser:NM_024410, UniProtKB:Q14990 No chr8 103563848 103573245 102551620 102561017 +PA31902 4957 HGNC:8114 ENSG00000136811 outer dense fiber of sperm tails 2 ODF2 cancer/testis antigen 134, cenexin CT134, ODF84 Yes No Comparative Toxicogenomics Database:4957, Ensembl:ENSG00000136811, GenAtlas:ODF2, GeneCard:ODF2, HGNC:HGNC:8114, HumanCyc Gene:HS06215, ModBase:Q96FN2, NCBI Gene:4957, OMIM:602015, RefSeq DNA:NT_008470, RefSeq Protein:NP_001229281, RefSeq Protein:NP_001229282, RefSeq Protein:NP_001229283, RefSeq Protein:NP_002531, RefSeq Protein:NP_702910, RefSeq Protein:NP_702911, RefSeq Protein:NP_702913, RefSeq Protein:NP_702914, RefSeq Protein:NP_702915, RefSeq Protein:NP_702917, RefSeq Protein:NP_702918, RefSeq RNA:NM_001242352, RefSeq RNA:NM_001242353, RefSeq RNA:NM_001242354, RefSeq RNA:NM_002540, RefSeq RNA:NM_153432, RefSeq RNA:NM_153433, RefSeq RNA:NM_153435, RefSeq RNA:NM_153436, RefSeq RNA:NM_153437, RefSeq RNA:NM_153439, RefSeq RNA:NM_153440, UCSC Genome Browser:NM_002540, UniProtKB:Q5BJF6 No chr9 131217434 131263571 128455155 128501292 +PA142671232 57489 HGNC:29225 ENSG00000122417 outer dense fiber of sperm tails 2 like ODF2L outer dense fiber of sperm tails 2-like KIAA1229 Yes No Ensembl:ENSG00000122417, GeneCard:ODF2L, HGNC:HGNC:29225, ModBase:Q9ULJ1, NCBI Gene:57489, RefSeq DNA:NT_032977, RefSeq Protein:NP_001007023, RefSeq Protein:NP_001171694, RefSeq Protein:NP_001171695, RefSeq Protein:NP_065780, RefSeq RNA:NM_001007022, RefSeq RNA:NM_001184765, RefSeq RNA:NM_001184766, RefSeq RNA:NM_020729, UniProtKB:Q9ULJ1 No chr1 86812507 86862025 86346824 86396345 +PA134978853 146852 HGNC:19056 ENSG00000184650 outer dense fiber of sperm tails 4 ODF4 cancer/testis antigen 136 CT136, OPPO1 Yes No Comparative Toxicogenomics Database:146852, Ensembl:ENSG00000184650, GeneCard:ODF4, HGNC:HGNC:19056, NCBI Gene:146852, OMIM:610097, RefSeq DNA:NT_010718, RefSeq Protein:NP_694552, RefSeq RNA:NM_153007, UniProtKB:Q2M2E3 No chr17 8243158 8249364 8339840 8346048 +PA134934744 54953 HGNC:24299 ENSG00000157181 odr-4 GPCR localization factor homolog ODR4 LAG1-interacting protein, chromosome 1 open reading frame 27, transactivated by recombinant transforming growth factor beta, transactivated by recombinant transforming growth factor beta 1 C1orf27, FLJ20505, TTG1, odr-4 Yes No Ensembl:ENSG00000157181, GeneCard:C1orf27, HGNC:HGNC:24299, HumanCyc Gene:HS14652, ModBase:Q5SWX8, NCBI Gene:54953, OMIM:609335, RefSeq DNA:NT_004487, RefSeq Protein:NP_001157717, RefSeq Protein:NP_001157718, RefSeq Protein:NP_060317, RefSeq RNA:NM_001164245, RefSeq RNA:NM_001164246, RefSeq RNA:NM_017847, UniProtKB:B4DNY0, UniProtKB:Q5SWX8 No chr1 186344890 186390503 186375758 186421375 +PA134905750 266553 HGNC:21017 ENSG00000181355 orofacial cleft 1 candidate 1 OFCC1 MRDS1, Opo Yes No Ensembl:ENSG00000181355, GeneCard:OFCC1, HGNC:HGNC:21017, HumanCyc Gene:HS17662, ModBase:Q8IZS5, NCBI Gene:266553, RefSeq DNA:NT_007592, RefSeq Protein:NP_694548, RefSeq Protein:XP_003118606, RefSeq RNA:NM_153003, RefSeq RNA:XM_003118558 No chr6 9697863 10211841 9775808 9842630 +PA31909 8481 HGNC:2567 ENSG00000046651 OFD1 centriole and centriolar satellite protein OFD1 """Joubert syndrome type 10"", ""OFD1, centriole and centriolar satellite protein"", ""oral-facial-digital syndrome 1""" 71-7A, CXorf5, JBTS10, RP23 Yes No Comparative Toxicogenomics Database:8481, Ensembl:ENSG00000046651, GenAtlas:OFD1, GeneCard:OFD1, HGNC:HGNC:2567, HumanCyc Gene:HS00581, ModBase:O75665, NCBI Gene:8481, OMIM:300170, OMIM:300209, OMIM:300804, OMIM:311200, RefSeq DNA:NG_008872, RefSeq DNA:NT_167197, RefSeq Protein:NP_003602, RefSeq RNA:NM_003611, UCSC Genome Browser:NM_003611, UniProtKB:O75665 No chrX 13733549 13787480 13734713 13769361 +PA134927015 386694 HGNC:23882 ENSG00000225466 OFD1 pseudogene 10, Y-linked OFD1P10Y Yes No Ensembl:ENSG00000225466, HGNC:HGNC:23882, NCBI Gene:386694, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 25727742 25761045 23581595 23614898 +PA134885288 386695 HGNC:23883 ENSG00000237302 OFD1 pseudogene 11, Y-linked OFD1P11Y Yes No Ensembl:ENSG00000237302, HGNC:HGNC:23883, NCBI Gene:386695, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 25916970 25944397 23770823 23798250 +PA134918131 386696 HGNC:23884 ENSG00000232585 OFD1 pseudogene 12, Y-linked OFD1P12Y Yes No Ensembl:ENSG00000232585, HGNC:HGNC:23884, NCBI Gene:386696, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 26129447 26141328 23983300 23995181 +PA134960994 386697 HGNC:23885 ENSG00000225287 OFD1 pseudogene 13, Y-linked OFD1P13Y Yes No Ensembl:ENSG00000225287, HGNC:HGNC:23885, NCBI Gene:386697, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 27821142 27843573 25674995 25697426 +PA134953407 386698 HGNC:23886 OFD1 pseudogene 14, Y-linked OFD1P14Y Yes No HGNC:HGNC:23886, NCBI Gene:386698, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 28017978 28034128 25871831 25887981 +PA134945751 386699 HGNC:23887 ENSG00000234888 OFD1 pseudogene 15, Y-linked OFD1P15Y Yes No Ensembl:ENSG00000234888, HGNC:HGNC:23887, NCBI Gene:386699, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 28215812 28234742 26069665 26088595 +PA134935440 442485 HGNC:18213 ENSG00000277519 OFD1 pseudogene 16, Y-linked OFD1P16Y Yes No Ensembl:ENSG00000277519, HGNC:HGNC:18213, NCBI Gene:442485, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 23957534 23964359 21811387 21818212 +PA25912 23738 HGNC:1332 ENSG00000228212 OFD1 pseudogene 17 OFD1P17 71-7A3, 71-7A5 Yes No Ensembl:ENSG00000228212, GeneCard:OFD1P17, HGNC:HGNC:1332, NCBI Gene:23738, RefSeq DNA:NG_003023, RefSeq DNA:NT_006576 No chr5 37209101 37212599 37208999 37212497 +PA27088 10751 HGNC:2589 ENSG00000235511 OFD1 pseudogene 18, Y-linked OFD1P18Y 71-7A2 Yes No Ensembl:ENSG00000235511, GenAtlas:CYorf1, GeneCard:OFD1P18Y, HGNC:HGNC:2589, NCBI Gene:10751, RefSeq DNA:NG_009011, RefSeq DNA:NT_011903 No chrY 28043354 28043728 25897207 25897581 +PA134867361 378009 HGNC:23873 ENSG00000226011 OFD1 pseudogene 1, Y-linked OFD1P1Y Yes No Ensembl:ENSG00000226011, HGNC:HGNC:23873, NCBI Gene:378009, RefSeq DNA:NT_011875 No chrY 19921079 19934714 17809199 17822834 +PA134899495 378010 HGNC:23874 ENSG00000226611 OFD1 pseudogene 2, Y-linked OFD1P2Y Yes No Ensembl:ENSG00000226611, HGNC:HGNC:23874, NCBI Gene:378010, RefSeq DNA:NT_011875 No chrY 20242502 20258697 18080616 18096811 +PA134875754 386687 HGNC:23875 ENSG00000231988 OFD1 pseudogene 3, Y-linked OFD1P3Y Yes No Ensembl:ENSG00000231988, HGNC:HGNC:23875, NCBI Gene:386687, RefSeq DNA:NG_003116, RefSeq DNA:NT_011896 No chrY 8902151 8908229 9034110 9040188 +PA134908916 386688 HGNC:23876 ENSG00000229406 OFD1 pseudogene 4, Y-linked OFD1P4Y Yes No Ensembl:ENSG00000229406, HGNC:HGNC:23876, NCBI Gene:386688, RefSeq DNA:NT_011875 No chrY 20614936 20631145 18453050 18469259 +PA134970586 386689 HGNC:23877 ENSG00000240438 OFD1 pseudogene 5, Y-linked OFD1P5Y Yes No Ensembl:ENSG00000240438, HGNC:HGNC:23877, NCBI Gene:386689, RefSeq DNA:NT_011875 No chrY 20743849 20791065 18581963 18629179 +PA134988461 386690 HGNC:13657 ENSG00000242153 OFD1 pseudogene 6, Y-linked OFD1P6Y Yes No Ensembl:ENSG00000242153, HGNC:HGNC:13657, NCBI Gene:386690, RefSeq DNA:NT_011875 No chrY 20835613 20900326 18673727 18738440 +PA134985463 386691 HGNC:23879 ENSG00000238088 OFD1 pseudogene 7, Y-linked OFD1P7Y Yes No Ensembl:ENSG00000238088, HGNC:HGNC:23879, NCBI Gene:386691, RefSeq DNA:NT_011875 No chrY 21010048 21029267 18848162 18867381 +PA134940617 386692 HGNC:23880 ENSG00000231159 OFD1 pseudogene 8, Y-linked OFD1P8Y Yes No Ensembl:ENSG00000231159, HGNC:HGNC:23880, NCBI Gene:386692, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 24118358 24151831 21972211 22005684 +PA134934035 386693 HGNC:23881 ENSG00000230476 OFD1 pseudogene 9, Y-linked OFD1P9Y Yes No Ensembl:ENSG00000230476, HGNC:HGNC:23881, NCBI Gene:386693, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 24726854 24760330 22580707 22614183 +PA30787 10724 HGNC:7056 ENSG00000198408 O-GlcNAcase OGA meningioma expressed antigen 5 (hyaluronidase), nuclear cytoplasmic O-GlcNAcase and acetyltransferase MEA5, MGEA5, NCOAT, OGA Yes No Comparative Toxicogenomics Database:10724, Ensembl:ENSG00000198408, GenAtlas:MGEA5, GeneCard:MGEA5, HGNC:HGNC:7056, HumanCyc Gene:HS03036, ModBase:O60502, NCBI Gene:10724, OMIM:604039, RefSeq DNA:NT_030059, RefSeq Protein:NP_001135906, RefSeq Protein:NP_036347, RefSeq RNA:NM_001142434, RefSeq RNA:NM_012215, UCSC Genome Browser:NM_012215, UniProtKB:O60502 No chr10 103544200 103578930 101784443 101818709 +PA31910 4967 HGNC:8124 ENSG00000105953 oxoglutarate dehydrogenase OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) E1k, KGD1, OGDC-E1, OGDH2 Yes No Comparative Toxicogenomics Database:4967, Ensembl:ENSG00000105953, GenAtlas:OGDH, GeneCard:OGDH, HGNC:HGNC:8124, HumanCyc Gene:HS02832, ModBase:Q02218, NCBI Gene:4967, OMIM:203740, OMIM:613022, RefSeq DNA:NG_023260, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001003941, RefSeq Protein:NP_001158508, RefSeq Protein:NP_002532, RefSeq RNA:NM_001003941, RefSeq RNA:NM_001165036, RefSeq RNA:NM_002541, UCSC Genome Browser:NM_002541, UniProtKB:B4E2U9, UniProtKB:B4E3E9, UniProtKB:Q02218, UniProtKB:Q96DD3 No chr7 44646104 44748669 44606522 44709070 +PA134878907 55753 HGNC:25590 ENSG00000197444 oxoglutarate dehydrogenase L OGDHL oxoglutarate dehydrogenase like, oxoglutarate dehydrogenase-like FLJ10851 Yes No Ensembl:ENSG00000197444, GeneCard:OGDHL, HGNC:HGNC:25590, HumanCyc Gene:HS03018, ModBase:Q9ULD0, NCBI Gene:55753, RefSeq DNA:NT_030059, RefSeq Protein:NP_001137468, RefSeq Protein:NP_001137469, RefSeq Protein:NP_060715, RefSeq RNA:NM_001143996, RefSeq RNA:NM_001143997, RefSeq RNA:NM_018245, UniProtKB:B4DKG2, UniProtKB:B4E193, UniProtKB:Q9ULD0 No chr10 50942687 50970425 49734641 49762379 +PA143485568 55239 HGNC:25585 ENSG00000087263 2-oxoglutarate and iron dependent oxygenase domain containing 1 OGFOD1 """2-oxoglutarate and iron-dependent oxygenase domain containing 1"", ""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)""" FLJ10826, KIAA1612, TPA1 Yes No Comparative Toxicogenomics Database:55239, Ensembl:ENSG00000087263, GeneCard:OGFOD1, HGNC:HGNC:25585, HumanCyc Gene:HS01569, ModBase:Q8N543, NCBI Gene:55239, RefSeq DNA:NT_010498, RefSeq Protein:NP_060703, RefSeq RNA:NM_018233, UniProtKB:Q8N543 No chr16 56485424 56511407 56451480 56477495 +PA143485569 79676 HGNC:25823 ENSG00000111325 2-oxoglutarate and iron dependent oxygenase domain containing 2 OGFOD2 2-oxoglutarate and iron-dependent oxygenase domain containing 2 FLJ13491, FLJ37501 Yes No Comparative Toxicogenomics Database:79676, Ensembl:ENSG00000111325, GeneCard:OGFOD2, HGNC:HGNC:25823, HumanCyc Gene:HS03400, ModBase:Q6N063, NCBI Gene:79676, RefSeq DNA:NT_009755, RefSeq Protein:NP_078899, RefSeq RNA:NM_024623, UniProtKB:Q6N063 No chr12 123459354 123464588 122974703 122980041 +PA164716907 79701 HGNC:26174 ENSG00000181396 2-oxoglutarate and iron dependent oxygenase domain containing 3 OGFOD3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 C17orf101, FLJ22222 Yes No Ensembl:ENSG00000181396, GeneCard:C17orf101, HGNC:HGNC:26174, HumanCyc Gene:HS11612, NCBI Gene:79701, RefSeq DNA:NT_010663, RefSeq Protein:NP_078924, RefSeq Protein:NP_787098, RefSeq RNA:NM_024648, RefSeq RNA:NM_175902, RefSeq RNA:NR_033265, UniProtKB:C9JDC8, UniProtKB:Q6PK18 No chr17 80347086 80376513 82389210 82418637 +PA31911 11054 HGNC:15768 ENSG00000060491 opioid growth factor receptor OGFR 7-60 Yes No Comparative Toxicogenomics Database:11054, Ensembl:ENSG00000060491, GenAtlas:OGFR, GeneCard:OGFR, HGNC:HGNC:15768, HumanCyc Gene:HS00744, ModBase:Q9NZT4, NCBI Gene:11054, OMIM:606459, RefSeq DNA:NT_011333, RefSeq Protein:NP_031372, RefSeq RNA:NM_007346, UCSC Genome Browser:NM_007346, UniProtKB:Q9NZT2 No chr20 61436156 61445352 62804825 62814000 +PA128394713 79627 HGNC:21378 ENSG00000119900 opioid growth factor receptor like 1 OGFRL1 opioid growth factor receptor-like 1 dJ331H24.1 Yes No Ensembl:ENSG00000119900, GeneCard:OGFRL1, HGNC:HGNC:21378, HumanCyc Gene:HS12964, ModBase:Q5TC84, NCBI Gene:79627, RefSeq DNA:NT_007299, RefSeq Protein:NP_078852, RefSeq RNA:NM_024576, UCSC Genome Browser:NM_024576, UniProtKB:Q5TC84 No chr6 71998477 72013267 71288296 71309059 +PA31912 4968 HGNC:8125 ENSG00000114026 8-oxoguanine DNA glycosylase OGG1 8-hydroxyguanine DNA glycosylase, OGG1 type 1d, OGG1 type 1e, OGG1 type 1g, OGG1 type 1h HMMH, HOGG1, MUTM, OGH1 Yes Yes Comparative Toxicogenomics Database:4968, Ensembl:ENSG00000114026, GenAtlas:OGG1, GeneCard:OGG1, HGNC:HGNC:8125, HumanCyc Gene:HS03734, ModBase:Q9Y6C4, NCBI Gene:4968, OMIM:144700, OMIM:601982, RefSeq DNA:NG_012106, RefSeq DNA:NT_022517, RefSeq Protein:NP_002533, RefSeq Protein:NP_058212, RefSeq Protein:NP_058213, RefSeq Protein:NP_058214, RefSeq Protein:NP_058434, RefSeq Protein:NP_058436, RefSeq Protein:NP_058437, RefSeq Protein:NP_058438, RefSeq RNA:NM_002542, RefSeq RNA:NM_016819, RefSeq RNA:NM_016820, RefSeq RNA:NM_016821, RefSeq RNA:NM_016826, RefSeq RNA:NM_016827, RefSeq RNA:NM_016828, RefSeq RNA:NM_016829, UCSC Genome Browser:NM_002542, UniProtKB:O15527 No chr3 9791628 9829468 9749944 9788246 +PA31913 4969 HGNC:8126 ENSG00000106809 osteoglycin OGN mimecan proteoglycan OIF, SLRR3A, mimecan Yes No Comparative Toxicogenomics Database:4969, Ensembl:ENSG00000106809, GenAtlas:OGN, GeneCard:OGN, HGNC:HGNC:8126, HumanCyc Gene:HS02954, ModBase:P20774, NCBI Gene:4969, OMIM:602383, RefSeq DNA:NT_008470, RefSeq Protein:NP_054776, RefSeq Protein:NP_148935, RefSeq RNA:NM_014057, RefSeq RNA:NM_033014, UCSC Genome Browser:NM_014057, UniProtKB:A8K0R3, UniProtKB:P20774, UniProtKB:Q7Z532 No chr9 95146249 95166976 92383271 92404699 +PA31914 8473 HGNC:8127 ENSG00000147162 O-linked N-acetylglucosamine (GlcNAc) transferase OGT UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase FLJ23071, HRNT1, MGC22921, O-GLCNAC, OGT1 Yes No Comparative Toxicogenomics Database:8473, Ensembl:ENSG00000147162, GenAtlas:OGT, GeneCard:OGT, HGNC:HGNC:8127, HumanCyc Gene:HS07403, ModBase:O15294, NCBI Gene:8473, OMIM:300255, RefSeq DNA:NG_015875, RefSeq DNA:NT_011669, RefSeq Protein:NP_858058, RefSeq Protein:NP_858059, RefSeq RNA:NM_181672, RefSeq RNA:NM_181673, UCSC Genome Browser:NM_003605, UniProtKB:O15294 No chrX 70752912 70795747 71533062 71575897 +PA134887641 11339 HGNC:20300 ENSG00000104147 Opa interacting protein 5 OIP5 MIS18 kinetochore protein homolog B (S. pombe), cancer/testis antigen 86 CT86, MIS18B, hMIS18beta Yes No Ensembl:ENSG00000104147, GeneCard:OIP5, HGNC:HGNC:20300, HumanCyc Gene:HS02548, ModBase:O43482, NCBI Gene:11339, OMIM:606020, RefSeq DNA:NT_010194, RefSeq Protein:NP_009211, RefSeq RNA:NM_007280, UniProtKB:O43482 No chr15 41601466 41624819 41309268 41332621 +PA142671231 170392 HGNC:29953 ENSG00000138315 oncoprotein induced transcript 3 OIT3 liver-specific ZP domain-containing protein FLJ39116, LZP Yes No Ensembl:ENSG00000138315, GeneCard:OIT3, HGNC:HGNC:29953, HumanCyc Gene:HS06484, ModBase:Q8WWZ8, NCBI Gene:170392, OMIM:609330, RefSeq DNA:NT_030059, RefSeq Protein:NP_689848, RefSeq RNA:NM_152635, UniProtKB:Q8WWZ8 No chr10 74653339 74692787 72893556 72933036 +PA162398388 29789 HGNC:28833 ENSG00000138430 Obg like ATPase 1 OLA1 Obg-like ATPase 1 GTPBP9, PTD004 Yes No Ensembl:ENSG00000138430, GeneCard:OLA1, HGNC:HGNC:28833, HumanCyc Gene:HS06503, ModBase:Q9NTK5, NCBI Gene:29789, OMIM:611175, RefSeq DNA:NT_005403, RefSeq Protein:NP_001011708, RefSeq Protein:NP_037473, RefSeq RNA:NM_001011708, RefSeq RNA:NM_013341, UniProtKB:Q9NTK5 No chr2 174937175 175113365 174072447 174248637 +PA134955731 55301 HGNC:25625 ENSG00000152463 oleoyl-ACP hydrolase OLAH """S-acyl fatty acid synthase thioesterase, medium chain"", ""oleoyl-acyl-carrier-protein hydrolase"", ""thioesterase 2"", ""type II thioesterase""" FLJ11106, SAST, TE2, THEDC1 Yes No Ensembl:ENSG00000152463, GeneCard:OLAH, HGNC:HGNC:25625, HumanCyc Gene:HS07821, ModBase:Q9NV23, NCBI Gene:55301, RefSeq DNA:NT_008705, RefSeq Protein:NP_001034791, RefSeq Protein:NP_060794, RefSeq RNA:NM_001039702, RefSeq RNA:NM_018324, UniProtKB:Q9NUW1, UniProtKB:Q9NV23 No chr10 15085895 15115851 15043896 15073852 +PA31915 10439 HGNC:17187 ENSG00000130558 olfactomedin 1 OLFM1 noelin1, pancortin AMY, NOE1, NOELIN, OlfA Yes No Comparative Toxicogenomics Database:10439, Ensembl:ENSG00000130558, GenAtlas:OLFM1, GeneCard:OLFM1, HGNC:HGNC:17187, HumanCyc Gene:HS05403, ModBase:Q99784, NCBI Gene:10439, OMIM:605366, RefSeq DNA:NT_019501, RefSeq Protein:NP_006325, RefSeq Protein:NP_055094, RefSeq RNA:NM_006334, RefSeq RNA:NM_014279, UCSC Genome Browser:NM_006334, UniProtKB:Q6IMJ7, UniProtKB:Q6IMJ8, UniProtKB:Q99784 No chr9 137967089 138013030 135075243 135121184 +PA31916 93145 HGNC:17189 ENSG00000105088 olfactomedin 2 OLFM2 noelin 2 NOE2, OlfC Yes No Comparative Toxicogenomics Database:93145, Ensembl:ENSG00000105088, GenAtlas:OLFM2, GeneCard:OLFM2, HGNC:HGNC:17189, HumanCyc Gene:HS02674, ModBase:O95897, NCBI Gene:93145, RefSeq DNA:NT_011295, RefSeq Protein:NP_477512, RefSeq RNA:NM_058164, UCSC Genome Browser:NM_058164, UniProtKB:O95897 No chr19 9964394 10047070 9853718 9936552 +PA31917 118427 HGNC:17990 ENSG00000118733 olfactomedin 3 OLFM3 optimedin NOE3 Yes No Comparative Toxicogenomics Database:118427, Ensembl:ENSG00000118733, GenAtlas:OLFM3, GeneCard:OLFM3, HGNC:HGNC:17990, HumanCyc Gene:HS04247, NCBI Gene:118427, OMIM:607567, RefSeq DNA:NT_032977, RefSeq Protein:NP_477518, RefSeq RNA:NM_058170, UniProtKB:B3KTG9, UniProtKB:Q5T3V6, UniProtKB:Q96PB7 No chr1 102268126 102462790 101800028 101997234 +PA134984745 10562 HGNC:17190 ENSG00000102837 olfactomedin 4 OLFM4 olfactoimedin, tiarin GC1, GW112, OlfD, pDP4 Yes No Comparative Toxicogenomics Database:10562, Ensembl:ENSG00000102837, GeneCard:OLFM4, HGNC:HGNC:17190, HumanCyc Gene:HS12494, ModBase:Q6UX06, NCBI Gene:10562, RefSeq DNA:NT_024524, RefSeq Protein:NP_006409, RefSeq RNA:NM_006418, UniProtKB:Q6UX06 No chr13 53602876 53626196 53028741 53052061 +PA134904379 283298 HGNC:24473 ENSG00000183801 olfactomedin like 1 OLFML1 olfactomedin-like 1 ONT2, UNQ564 Yes No Comparative Toxicogenomics Database:283298, Ensembl:ENSG00000183801, GeneCard:OLFML1, HGNC:HGNC:24473, ModBase:Q6UWY5, NCBI Gene:283298, RefSeq DNA:NT_009237, RefSeq Protein:NP_940876, RefSeq RNA:NM_198474, UniProtKB:Q5HYE3, UniProtKB:Q6UWY5 No chr11 7506600 7533128 7485354 7511897 +PA134967883 169611 HGNC:27270 ENSG00000185585 olfactomedin like 2A OLFML2A olfactomedin-like 2A, photomedin-1 FLJ00237 Yes No Comparative Toxicogenomics Database:169611, Ensembl:ENSG00000185585, GeneCard:OLFML2A, HGNC:HGNC:27270, ModBase:Q68BL7, NCBI Gene:169611, RefSeq DNA:NT_008470, RefSeq Protein:NP_872293, RefSeq RNA:NM_182487, UniProtKB:Q68BL7 No chr9 127539435 127577161 124777158 124814891 +PA134990758 25903 HGNC:24558 ENSG00000162745 olfactomedin like 2B OLFML2B olfactomedin-like 2B, photomedin-2 DKFZP586L151 Yes No Comparative Toxicogenomics Database:25903, Ensembl:ENSG00000162745, GeneCard:OLFML2B, HGNC:HGNC:24558, ModBase:Q68BL8, NCBI Gene:25903, RefSeq DNA:NT_004487, RefSeq Protein:NP_056256, RefSeq RNA:NM_015441, UniProtKB:Q68BL8 No chr1 161952982 161994172 161983192 162024465 +PA134913777 56944 HGNC:24956 ENSG00000116774 olfactomedin like 3 OLFML3 olfactomedin-like 3 HNOEL-iso, OLF44 Yes No Comparative Toxicogenomics Database:56944, Ensembl:ENSG00000116774, GeneCard:OLFML3, HGNC:HGNC:24956, HumanCyc Gene:HS12882, ModBase:Q9NRN5, NCBI Gene:56944, OMIM:610088, RefSeq DNA:NT_032977, RefSeq Protein:NP_064575, RefSeq RNA:NM_020190, UniProtKB:Q9NRN5 No chr1 114522030 114524875 113979391 113982254 +PA31918 116448 HGNC:16983 ENSG00000184221 oligodendrocyte transcription factor 1 OLIG1 """basic domain, helix-loop-helix protein, class B, 6"", ""oligodendrocyte lineage transcription factor 1"", ""oligodendrocyte-specific bHLH transcription factor 1""" BHLHB6, bHLHe21 Yes No Comparative Toxicogenomics Database:116448, Ensembl:ENSG00000184221, GenAtlas:OLIG1, GeneCard:OLIG1, HGNC:HGNC:16983, ModBase:Q8TAK6, NCBI Gene:116448, OMIM:606385, RefSeq DNA:NT_011512, RefSeq Protein:NP_620450, RefSeq RNA:NM_138983, UniProtKB:Q8TAK6 No chr21 34442450 34444728 33070144 33072422 +PA31919 10215 HGNC:9398 ENSG00000205927 oligodendrocyte transcription factor 2 OLIG2 """basic domain, helix-loop-helix protein, class B, 1"", ""human protein kinase C-binding protein RACK17"", ""oligodendrocyte lineage transcription factor 2"", ""oligodendrocyte-specific bHLH transcription factor 2"", ""protein kinase C binding protein 2""" BHLHB1, OLIGO2, PRKCBP2, RACK17, bHLHe19 Yes No Comparative Toxicogenomics Database:10215, Ensembl:ENSG00000205927, GenAtlas:OLIG2, GeneCard:OLIG2, HGNC:HGNC:9398, ModBase:Q13516, NCBI Gene:10215, OMIM:606386, RefSeq DNA:NG_011834, RefSeq DNA:NT_011512, RefSeq Protein:NP_005797, RefSeq RNA:NM_005806, UCSC Genome Browser:NM_005806, UniProtKB:Q13516 No chr21 34398216 34401504 33025908 33029196 +PA134945348 167826 HGNC:18003 ENSG00000177468 oligodendrocyte transcription factor 3 OLIG3 Bhlhb7, bHLHe20 Yes No Ensembl:ENSG00000177468, GeneCard:OLIG3, HGNC:HGNC:18003, ModBase:Q7RTU3, NCBI Gene:167826, OMIM:609323, RefSeq DNA:NT_025741, RefSeq Protein:NP_786923, RefSeq RNA:NM_175747, UniProtKB:Q7RTU3 No chr6 137813336 137815531 137492199 137494394 +PA31920 4973 HGNC:8133 ENSG00000173391 oxidized low density lipoprotein receptor 1 OLR1 oxidized low density lipoprotein (lectin-like) receptor 1 CLEC8A, LOX-1, SCARE1 Yes No Comparative Toxicogenomics Database:4973, Ensembl:ENSG00000173391, GenAtlas:OLR1, GeneCard:OLR1, HGNC:HGNC:8133, HumanCyc Gene:HS10657, ModBase:P78380, NCBI Gene:4973, OMIM:602601, RefSeq DNA:NG_016743, RefSeq DNA:NT_009714, RefSeq Protein:NP_001166103, RefSeq Protein:NP_001166104, RefSeq Protein:NP_002534, RefSeq RNA:NM_001172632, RefSeq RNA:NM_001172633, RefSeq RNA:NM_002543, UCSC Genome Browser:NM_002543, UniProtKB:B4DI48, UniProtKB:P78380 No chr12 10310899 10324790 10158300 10172191 +PA134911478 115209 HGNC:29661 ENSG00000162600 OMA1 zinc metallopeptidase OMA1 OMA1 zinc metallopeptidase homolog (S. cerevisiae), overlapping activity with M-AAA protease, zinc metallopeptidase OMA1 FLJ33782, MPRP-1, YKR087C, ZMPOMA1 Yes No Comparative Toxicogenomics Database:115209, Ensembl:ENSG00000162600, GeneCard:OMA1, HGNC:HGNC:29661, HumanCyc Gene:HS08700, ModBase:Q96E52, NCBI Gene:115209, RefSeq DNA:NT_032977, RefSeq Protein:NP_660286, RefSeq RNA:NM_145243, UniProtKB:Q96E52 No chr1 58881052 59012469 58480719 58546799 +PA31921 4958 HGNC:8134 ENSG00000127083 osteomodulin OMD osteoadherin proteoglycan SLRR2C, osteoadherin Yes No Comparative Toxicogenomics Database:4958, Ensembl:ENSG00000127083, GenAtlas:OMD, GeneCard:OMD, HGNC:HGNC:8134, HumanCyc Gene:HS05073, ModBase:Q99983, NCBI Gene:4958, RefSeq DNA:NT_008470, RefSeq Protein:NP_005005, RefSeq RNA:NM_005014, UCSC Genome Browser:NM_005014, UniProtKB:Q99983 No chr9 95176527 95186836 92414245 92424554 +PA31922 4974 HGNC:8135 ENSG00000126861 oligodendrocyte myelin glycoprotein OMG OMGP Yes No Comparative Toxicogenomics Database:4974, Ensembl:ENSG00000126861, GenAtlas:OMG, GeneCard:OMG, HGNC:HGNC:8135, HumanCyc Gene:HS05056, ModBase:P23515, NCBI Gene:4974, OMIM:164345, RefSeq DNA:NT_010799, RefSeq Protein:NP_002535, RefSeq RNA:NM_002544, UCSC Genome Browser:NM_002544, UniProtKB:P23515 No chr17 29621668 29624380 31294650 31297362 +PA31923 4975 HGNC:8136 ENSG00000254550 olfactory marker protein OMP Yes No Comparative Toxicogenomics Database:4975, Ensembl:ENSG00000254550, GenAtlas:OMP, GeneCard:OMP, HGNC:HGNC:8136, ModBase:P47874, NCBI Gene:4975, OMIM:164340, RefSeq DNA:NT_167190, RefSeq Protein:NP_006180, RefSeq RNA:NM_006189, UCSC Genome Browser:NM_006189, UniProtKB:P47874 No chr11 76813886 76814377 77102840 77103331 +PA31924 3175 HGNC:8138 ENSG00000169856 one cut homeobox 1 ONECUT1 HNF-6, HNF6, HNF6A Yes No Comparative Toxicogenomics Database:3175, Ensembl:ENSG00000169856, GenAtlas:ONECUT1, GeneCard:ONECUT1, HGNC:HGNC:8138, HumanCyc Gene:HS10018, ModBase:Q9UBC0, NCBI Gene:3175, OMIM:604164, RefSeq DNA:NT_010194, RefSeq Protein:NP_004489, RefSeq RNA:NM_004498, UCSC Genome Browser:NM_004498, UniProtKB:Q9UBC0 No chr15 53049160 53082209 52756963 52790264 +PA31925 9480 HGNC:8139 ENSG00000119547 one cut homeobox 2 ONECUT2 OC-2 Yes No Ensembl:ENSG00000119547, GenAtlas:ONECUT2, GeneCard:ONECUT2, HGNC:HGNC:8139, HumanCyc Gene:HS04309, ModBase:O95948, NCBI Gene:9480, OMIM:604894, RefSeq DNA:NT_025028, RefSeq Protein:NP_004843, RefSeq RNA:NM_004852, UCSC Genome Browser:NM_004852, UniProtKB:O95948 No chr18 55102917 55158530 57435420 57491298 +PA31926 390874 HGNC:13399 ENSG00000205922 one cut homeobox 3 ONECUT3 Yes No Ensembl:ENSG00000205922, GenAtlas:ONECUT3, GeneCard:ONECUT3, HGNC:HGNC:13399, ModBase:O60422, NCBI Gene:390874, OMIM:611294, RefSeq DNA:NT_011255, RefSeq Protein:NP_001073957, RefSeq RNA:NM_001080488, UniProtKB:O60422 No chr19 1753662 1775444 1753663 1775445 +PA162398414 441161 HGNC:21382 ENSG00000203907 oocyte expressed protein OOEP KH homology domain containing 2 C6orf156, Em:AC019205.2, KHDC2 Yes No Ensembl:ENSG00000203907, GeneCard:OOEP, HGNC:HGNC:21382, NCBI Gene:441161, OMIM:611689, RefSeq DNA:NT_007299, RefSeq Protein:NP_001073976, RefSeq RNA:NM_001080507, UniProtKB:A6NGQ2 No chr6 74078278 74079515 73368553 73369888 +PA166351997 255649 HGNC:49233 oocyte secreted protein 1 OOSP1 Yes No HGNC:HGNC:49233, NCBI Gene:255649 No 0 0 0 0 +PA162399666 219990 HGNC:26699 ENSG00000149507 oocyte secreted protein 2 OOSP2 placenta-specific 1-like FLJ36198, OOSP2A, PLAC1L, TMEM122 Yes No Ensembl:ENSG00000149507, GeneCard:PLAC1L, HGNC:HGNC:26699, HumanCyc Gene:HS14287, NCBI Gene:219990, RefSeq DNA:NT_167190, RefSeq Protein:NP_776162, RefSeq RNA:NM_173801, UniProtKB:Q86WS3 No chr11 59807748 59815517 60040275 60048044 +PA166181589 112577461 HGNC:53903 ENSG00000285231 oocyte secreted protein family member 3 OOSP3 Yes No Ensembl:ENSG00000285231, HGNC:HGNC:53903, NCBI Gene:112577461 No 0 0 0 0 +PA166181590 112577462 HGNC:53904 ENSG00000285010 oocyte secreted protein family member 4A OOSP4A Yes No Ensembl:ENSG00000285010, HGNC:HGNC:53904, NCBI Gene:112577462 No 0 0 0 0 +PA166181591 107987155 HGNC:53905 ENSG00000255393 oocyte secreted protein family member 4B OOSP4B Yes No Ensembl:ENSG00000255393, HGNC:HGNC:53905, NCBI Gene:107987155 No 0 0 0 0 +PA31927 4976 HGNC:8140 ENSG00000198836 OPA1 mitochondrial dynamin like GTPase OPA1 """Dynamin-like 120 kDa protein, mitochondrial"", ""OPA1, mitochondrial dynamin like GTPase"", ""dynamin-like guanosine triphosphatase"", ""mitochondrial dynamin-like GTPase"", ""optic atrophy 1 (autosomal dominant)""" FLJ12460, KIAA0567, MGM1, NPG, NTG Yes No Comparative Toxicogenomics Database:4976, Ensembl:ENSG00000198836, GenAtlas:OPA1, GeneCard:OPA1, HGNC:HGNC:8140, NCBI Gene:4976, OMIM:125250, OMIM:165500, OMIM:605290, OMIM:606657, RefSeq DNA:NG_011605, RefSeq DNA:NT_005612, RefSeq Protein:NP_056375, RefSeq Protein:NP_570844, RefSeq Protein:NP_570845, RefSeq Protein:NP_570846, RefSeq Protein:NP_570847, RefSeq Protein:NP_570848, RefSeq Protein:NP_570849, RefSeq Protein:NP_570850, RefSeq RNA:NM_015560, RefSeq RNA:NM_130831, RefSeq RNA:NM_130832, RefSeq RNA:NM_130833, RefSeq RNA:NM_130834, RefSeq RNA:NM_130835, RefSeq RNA:NM_130836, RefSeq RNA:NM_130837, UCSC Genome Browser:NM_015560, UniProtKB:O60313 No chr3 193310933 193415600 193593144 193697811 +PA31929 80207 HGNC:8142 ENSG00000125741 outer mitochondrial membrane lipid metabolism regulator OPA3 OPA3 """3-methylglutaconic aciduria type III"", ""OPA3, outer mitochondrial membrane lipid metabolism regulator"", ""optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)""" FLJ22187, MGA3 Yes No Comparative Toxicogenomics Database:80207, Ensembl:ENSG00000125741, GenAtlas:OPA3, GeneCard:OPA3, HGNC:HGNC:8142, HumanCyc Gene:HS04923, NCBI Gene:80207, OMIM:165300, OMIM:258501, OMIM:606580, RefSeq DNA:NG_013332, RefSeq DNA:NT_011109, RefSeq Protein:NP_001017989, RefSeq Protein:NP_079412, RefSeq RNA:NM_001017989, RefSeq RNA:NM_025136, UCSC Genome Browser:NM_025136, UniProtKB:Q9H6K4 No chr19 46031025 46088122 45527767 45584864 +PA162398424 93377 HGNC:20707 ENSG00000197430 oligodendrocytic myelin paranodal and inner loop protein OPALIN HTMP10, TMEM10, TMP10 Yes No Ensembl:ENSG00000197430, GeneCard:OPALIN, HGNC:HGNC:20707, NCBI Gene:93377, RefSeq DNA:NT_030059, RefSeq Protein:NP_001035191, RefSeq Protein:NP_001035192, RefSeq Protein:NP_149984, RefSeq RNA:NM_001040102, RefSeq RNA:NM_001040103, RefSeq RNA:NM_033207, UniProtKB:A8MYG4, UniProtKB:B4DK96, UniProtKB:Q5W102, UniProtKB:Q96PE5 No chr10 98102973 98119092 96343216 96359365 +PA31930 4978 HGNC:8143 ENSG00000183715 opioid binding protein/cell adhesion molecule like OPCML IgLON family member 1, opioid binding protein/cell adhesion molecule-like IGLON1, OBCAM, OPCM Yes Yes Comparative Toxicogenomics Database:4978, Ensembl:ENSG00000183715, GenAtlas:OPCML, GeneCard:OPCML, HGNC:HGNC:8143, ModBase:Q14982, NCBI Gene:4978, OMIM:167000, OMIM:600632, OMIM:604370, RefSeq DNA:NG_012107, RefSeq DNA:NT_033899, RefSeq Protein:NP_001012393, RefSeq Protein:NP_002536, RefSeq RNA:NM_001012393, RefSeq RNA:NM_002545, RefSeq RNA:XR_110538, UCSC Genome Browser:NM_002545, UniProtKB:Q14982 No chr11 132284875 133402403 132403361 133532983 +PA31934 4983 HGNC:8148 ENSG00000079482 oligophrenin 1 OPHN1 ARHGAP41, MRX60, OPN1 Yes No Comparative Toxicogenomics Database:4983, Ensembl:ENSG00000079482, GenAtlas:OPHN1, GeneCard:OPHN1, HGNC:HGNC:8148, HumanCyc Gene:HS01331, ModBase:O60890, NCBI Gene:4983, OMIM:300127, OMIM:300486, RefSeq DNA:NG_008960, RefSeq DNA:NT_011669, RefSeq Protein:NP_002538, RefSeq RNA:NM_002547, UCSC Genome Browser:NM_002547, UniProtKB:O60890 No chrX 67262186 67653369 68042344 68433841 +PA31935 26873 HGNC:8149 ENSG00000178814 5-oxoprolinase, ATP-hydrolysing OPLAH 5-oxoprolinase (ATP-hydrolysing) 5-Opase, OPLA Yes No Comparative Toxicogenomics Database:26873, Ensembl:ENSG00000178814, GenAtlas:OPLAH, GeneCard:OPLAH, HGNC:HGNC:8149, HumanCyc Gene:HS11949, ModBase:O14841, NCBI Gene:26873, RefSeq DNA:NT_008046, RefSeq Protein:NP_060040, RefSeq RNA:NM_017570, UniProtKB:O14841 No chr8 145106167 145115584 144051266 144064026 +PA31936 5956 HGNC:9936 ENSG00000102076 opsin 1, long wave sensitive OPN1LW """cone dystrophy 5 (X-linked)"", ""opsin 1 (cone pigments), long-wave-sensitive""" CBBM, CBP, COD5, RCP Yes No Comparative Toxicogenomics Database:5956, Ensembl:ENSG00000102076, GenAtlas:OPN1LW, GeneCard:OPN1LW, HGNC:HGNC:9936, HumanCyc Gene:HS02346, ModBase:P04000, NCBI Gene:5956, OMIM:303700, OMIM:303900, RefSeq DNA:NG_009105, RefSeq DNA:NT_167198, RefSeq Protein:NP_064445, RefSeq RNA:NM_020061, UCSC Genome Browser:NM_020061, UniProtKB:P04000 No chrX 153409725 153424507 154144224 154159032 +PA31937 2652 HGNC:4206 ENSG00000268221 opsin 1, medium wave sensitive OPN1MW """cone dystrophy 5 (X-linked)"", ""opsin 1 (cone pigments), medium-wave-sensitive""" CBBM, CBD, COD5, GCP, OPN1MW1 Yes No Comparative Toxicogenomics Database:2652, Ensembl:ENSG00000268221, GenAtlas:OPN1MW, GeneCard:OPN1MW, HGNC:HGNC:4206, HumanCyc Gene:HS07420, HumanCyc Gene:HS09342, NCBI Gene:2652, OMIM:303700, OMIM:303800, RefSeq DNA:NG_011606, RefSeq DNA:NT_167198, RefSeq Protein:NP_000504, RefSeq RNA:NM_000513, UCSC Genome Browser:NM_000513 No chrX 153448085 153462352 154182596 154196861 +PA142671229 728458 HGNC:26952 ENSG00000166160 opsin 1, medium wave sensitive 2 OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2 Yes No Ensembl:ENSG00000166160, GeneCard:OPN1MW2, HGNC:HGNC:26952, NCBI Gene:728458, RefSeq DNA:NT_167198, RefSeq Protein:NP_001041646, RefSeq RNA:NM_001048181, UniProtKB:P04001 No chrX 153485203 153498755 154219734 154233286 +PA166181592 101060233 HGNC:51831 ENSG00000269433 opsin 1, medium wave sensitive 3 OPN1MW3 Yes No Ensembl:ENSG00000269433, HGNC:HGNC:51831, NCBI Gene:101060233 No 0 0 0 0 +PA31938 611 HGNC:1012 ENSG00000128617 opsin 1, short wave sensitive OPN1SW """blue-sensitive opsin"", ""color blindness, tritan"", ""opsin 1 (cone pigments), short-wave-sensitive""" BCP, BOP, CBT Yes Yes Comparative Toxicogenomics Database:611, Ensembl:ENSG00000128617, GenAtlas:OPN1SW, GeneCard:OPN1SW, HGNC:HGNC:1012, HumanCyc Gene:HS05207, ModBase:P03999, NCBI Gene:611, OMIM:190900, OMIM:613522, RefSeq DNA:NG_009094, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001699, RefSeq RNA:NM_001708, UCSC Genome Browser:NM_001708, UniProtKB:P03999, UniProtKB:Q0PJU0 No chr7 128412543 128415844 128772489 128775790 +PA31939 23596 HGNC:14007 ENSG00000054277 opsin 3 OPN3 """panopsin"", ""protein phosphatase 1, regulatory subunit 116""" ECPN, ERO, NMO-1, PPP1R116, encephalopsin Yes No Comparative Toxicogenomics Database:23596, Ensembl:ENSG00000054277, GenAtlas:OPN3, GeneCard:OPN3, HGNC:HGNC:14007, HumanCyc Gene:HS00668, IUPHAR Receptor:160, ModBase:Q9H1Y3, NCBI Gene:23596, OMIM:606695, RefSeq DNA:NT_167186, RefSeq Protein:NP_055137, RefSeq RNA:NM_014322, UCSC Genome Browser:NM_014322, UniProtKB:Q9H1Y3 No chr1 241756452 241803701 241593150 241640399 +PA31940 94233 HGNC:14449 ENSG00000122375 opsin 4 OPN4 melanopsin MOP Yes No Ensembl:ENSG00000122375, GenAtlas:OPN4, GeneCard:OPN4, HGNC:HGNC:14449, HumanCyc Gene:HS04565, ModBase:Q9UHM6, NCBI Gene:94233, OMIM:606665, RefSeq DNA:NT_030059, RefSeq Protein:NP_001025186, RefSeq Protein:NP_150598, RefSeq RNA:NM_001030015, RefSeq RNA:NM_033282, UCSC Genome Browser:NM_033282, UniProtKB:A6NEB4, UniProtKB:Q9UHM6 No chr10 88414314 88426217 86653495 86666460 +PA134942887 221391 HGNC:19992 ENSG00000124818 opsin 5 OPN5 neuropsin TMEM13, dJ402H5.1 Yes No Ensembl:ENSG00000124818, GeneCard:OPN5, HGNC:HGNC:19992, IUPHAR Receptor:161, ModBase:Q6U736, NCBI Gene:221391, OMIM:609042, RefSeq DNA:NT_007592, RefSeq Protein:NP_001025222, RefSeq Protein:NP_859528, RefSeq RNA:NM_001030051, RefSeq RNA:NM_181744, RefSeq RNA:NR_033806, UniProtKB:Q6U736 No chr6 47749775 47794117 47782037 47831088 +PA31942 4985 HGNC:8153 ENSG00000116329 opioid receptor delta 1 OPRD1 opioid receptor, delta 1 Yes Yes Comparative Toxicogenomics Database:4985, Ensembl:ENSG00000116329, GenAtlas:OPRD1, GeneCard:OPRD1, HGNC:HGNC:8153, HumanCyc Gene:HS04007, IUPHAR Receptor:317, ModBase:P41143, NCBI Gene:4985, OMIM:165195, RefSeq DNA:NT_004610, RefSeq Protein:NP_000902, RefSeq RNA:NM_000911, UCSC Genome Browser:NM_000911, UniProtKB:P41143 No chr1 29138654 29190208 28812142 28863696 +PA31943 4986 HGNC:8154 ENSG00000082556 opioid receptor kappa 1 OPRK1 opioid receptor, kappa 1 KOR, OPRK Yes Yes Comparative Toxicogenomics Database:4986, Ensembl:ENSG00000082556, GenAtlas:OPRK1, GeneCard:OPRK1, HGNC:HGNC:8154, HumanCyc Gene:HS01426, IUPHAR Receptor:318, ModBase:P41145, NCBI Gene:4986, OMIM:165196, RefSeq DNA:NT_008183, RefSeq Protein:NP_000903, RefSeq RNA:NM_000912, UCSC Genome Browser:NM_000912, UniProtKB:P41145 No chr8 54138276 54164257 53225716 53251697 +PA31944 4987 HGNC:8155 ENSG00000125510 opioid related nociceptin receptor 1 OPRL1 LC132 receptor-like, kappa3-related opioid receptor, nociceptin/orphanin FQ receptor, opiate receptor-like 1, orphanin FQ receptor KOR-3, NOCIR, NOPr, OOR, ORL1, PNOCR Yes Yes Comparative Toxicogenomics Database:4987, Ensembl:ENSG00000125510, GenAtlas:OPRL1, GeneCard:OPRL1, HGNC:HGNC:8155, HumanCyc Gene:HS04899, IUPHAR Receptor:320, ModBase:P41146, NCBI Gene:4987, OMIM:602548, RefSeq DNA:NT_011333, RefSeq Protein:NP_000904, RefSeq Protein:NP_001186948, RefSeq Protein:NP_872588, RefSeq RNA:NM_000913, RefSeq RNA:NM_001200019, RefSeq RNA:NM_182647, UCSC Genome Browser:NM_000913, UniProtKB:P41146 No chr20 62711451 62731996 64080082 64100643 +PA31945 4988 HGNC:8156 ENSG00000112038 opioid receptor mu 1 OPRM1 """Mu opiate receptor"", ""Mu opioid receptor"", ""opioid receptor, mu 1""" MOP, MOR1 Yes Yes Comparative Toxicogenomics Database:4988, Ensembl:ENSG00000112038, GenAtlas:OPRM1, GeneCard:OPRM1, HGNC:HGNC:8156, HumanCyc Gene:HS03501, IUPHAR Receptor:319, ModBase:P35372, NCBI Gene:4988, OMIM:600018, OMIM:600669, RefSeq DNA:NG_021208, RefSeq DNA:NT_025741, RefSeq Protein:NP_000905, RefSeq Protein:NP_001008503, RefSeq Protein:NP_001008504, RefSeq Protein:NP_001008505, RefSeq Protein:NP_001138751, RefSeq Protein:NP_001138752, RefSeq Protein:NP_001138753, RefSeq Protein:NP_001138754, RefSeq Protein:NP_001138755, RefSeq Protein:NP_001138756, RefSeq Protein:NP_001138757, RefSeq Protein:NP_001138758, RefSeq Protein:NP_001138759, RefSeq RNA:NM_000914, RefSeq RNA:NM_001008503, RefSeq RNA:NM_001008504, RefSeq RNA:NM_001008505, RefSeq RNA:NM_001145279, RefSeq RNA:NM_001145280, RefSeq RNA:NM_001145281, RefSeq RNA:NM_001145282, RefSeq RNA:NM_001145283, RefSeq RNA:NM_001145284, RefSeq RNA:NM_001145285, RefSeq RNA:NM_001145286, RefSeq RNA:NM_001145287, UCSC Genome Browser:NM_000914, UniProtKB:B0FXJ1, UniProtKB:B8Q1L8, UniProtKB:B8Q1L9, UniProtKB:P35372, UniProtKB:Q6UPP1 Yes chr6 154331631 154568001 154010496 154246867 +PA33803 58503 HGNC:17279 ENSG00000171199 opiorphin prepropeptide OPRPN proline rich, lacrimal 1 BPLP, PRL1, PROL1, opiorphin Yes No Ensembl:ENSG00000171199, GenAtlas:PROL1, GeneCard:PROL1, HGNC:HGNC:17279, HumanCyc Gene:HS10263, NCBI Gene:58503, OMIM:608936, RefSeq DNA:NT_022778, RefSeq Protein:NP_067048, RefSeq RNA:NM_021225, UCSC Genome Browser:NM_021225, UniProtKB:Q99935 No chr4 71263599 71275914 70397882 70410197 +PA31947 26254 HGNC:8158 ENSG00000188770 opticin OPTC oculoglycan Yes No Ensembl:ENSG00000188770, GenAtlas:OPTC, GeneCard:OPTC, HGNC:HGNC:8158, ModBase:Q9UBM4, NCBI Gene:26254, OMIM:605127, RefSeq DNA:NG_022886, RefSeq DNA:NT_004487, RefSeq Protein:NP_055174, RefSeq RNA:NM_014359, UCSC Genome Browser:NM_014359, UniProtKB:Q9UBM4 No chr1 203463271 203478077 203494143 203508949 +PA31948 10133 HGNC:17142 ENSG00000123240 optineurin OPTN FIP-2, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP Yes No Comparative Toxicogenomics Database:10133, Ensembl:ENSG00000123240, GenAtlas:OPTN, GeneCard:OPTN, HGNC:HGNC:17142, HumanCyc Gene:HS04643, ModBase:Q9UEV4, NCBI Gene:10133, OMIM:137760, OMIM:602432, OMIM:606657, OMIM:613435, RefSeq DNA:NG_012876, RefSeq DNA:NT_008705, RefSeq Protein:NP_001008212, RefSeq Protein:NP_001008213, RefSeq Protein:NP_001008214, RefSeq Protein:NP_068815, RefSeq RNA:NM_001008211, RefSeq RNA:NM_001008212, RefSeq RNA:NM_001008213, RefSeq RNA:NM_021980, UCSC Genome Browser:NM_021980, UniProtKB:Q96CV9 No chr10 13141425 13180291 13100082 13138276 +PA31950 341276 HGNC:8161 ENSG00000170790 olfactory receptor family 10 subfamily A member 2 OR10A2 olfactory receptor, family 10, subfamily A, member 2 OR10A2P, OST363 Yes No Ensembl:ENSG00000170790, GenAtlas:OR10A2, GeneCard:OR10A2, HGNC:HGNC:8161, ModBase:Q9H208, NCBI Gene:341276, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004460, RefSeq RNA:NM_001004460, UniProtKB:Q9H208 No chr11 6890986 6891897 6869755 6870666 +PA31951 26496 HGNC:8162 ENSG00000170683 olfactory receptor family 10 subfamily A member 3 OR10A3 olfactory receptor, family 10, subfamily A, member 3 HSHTPCRX12, HTPCRX12 Yes No Ensembl:ENSG00000170683, GenAtlas:OR10A3, GeneCard:OR10A3, HGNC:HGNC:8162, ModBase:P58181, NCBI Gene:26496, RefSeq DNA:NT_009237, RefSeq Protein:NP_001003745, RefSeq RNA:NM_001003745, UniProtKB:P58181 No chr11 7960123 7961067 7938576 7939520 +PA31952 283297 HGNC:15130 ENSG00000170782 olfactory receptor family 10 subfamily A member 4 OR10A4 olfactory receptor, family 10, subfamily A, member 4 OR10A4P Yes No Ensembl:ENSG00000170782, GenAtlas:OR10A4, GeneCard:OR10A4, HGNC:HGNC:15130, ModBase:Q9H209, NCBI Gene:283297, RefSeq DNA:NT_009237, RefSeq Protein:NP_997069, RefSeq RNA:NM_207186, UniProtKB:Q9H209 No chr11 6897856 6898850 6876625 6877619 +PA31953 144124 HGNC:15131 ENSG00000166363 olfactory receptor family 10 subfamily A member 5 OR10A5 olfactory receptor, family 10, subfamily A, member 5 JCG6, OR10A1, OR11-403 Yes No Ensembl:ENSG00000166363, GenAtlas:OR10A5, GeneCard:OR10A5, HGNC:HGNC:15131, ModBase:Q9H207, NCBI Gene:144124, OMIM:608493, RefSeq DNA:NT_009237, RefSeq Protein:NP_835462, RefSeq RNA:NM_178168, UniProtKB:Q9H207 No chr11 6866914 6867867 6845683 6846636 +PA31954 390093 HGNC:15132 ENSG00000279000 olfactory receptor family 10 subfamily A member 6 (gene/pseudogene) OR10A6 olfactory receptor, family 10, subfamily A, member 6 Yes No Ensembl:ENSG00000279000, GenAtlas:OR10A6, GeneCard:OR10A6, HGNC:HGNC:15132, ModBase:Q8NH74, NCBI Gene:390093, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004461, RefSeq RNA:NM_001004461, UniProtKB:Q8NH74 No chr11 7949265 7950209 7927718 7928662 +PA31955 121364 HGNC:15329 ENSG00000179919 olfactory receptor family 10 subfamily A member 7 OR10A7 olfactory receptor, family 10, subfamily A, member 7 Yes No Ensembl:ENSG00000179919, GenAtlas:OR10A7, GeneCard:OR10A7, HGNC:HGNC:15329, ModBase:Q8NGE5, NCBI Gene:121364, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005280, RefSeq RNA:NM_001005280, UniProtKB:Q8NGE5 No chr12 55614809 55615759 55221025 55221975 +PA31956 81487 HGNC:14989 ENSG00000180409 olfactory receptor, family 10, subfamily AA, member 1 pseudogene OR10AA1P Yes No Ensembl:ENSG00000180409, GenAtlas:OR10AA1P, GeneCard:OR10AA1P, HGNC:HGNC:14989, NCBI Gene:81487, RefSeq DNA:NG_004278, RefSeq DNA:NT_004487 No chr1 158778192 158779125 158808402 158809335 +PA31957 390091 HGNC:14804 ENSG00000176716 olfactory receptor, family 10, subfamily AB, member 1 pseudogene OR10AB1P Yes No Ensembl:ENSG00000176716, GenAtlas:OR10AB1P, GeneCard:OR10AB1P, HGNC:HGNC:14804, NCBI Gene:390091, RefSeq DNA:NG_004153, RefSeq DNA:NT_009237 No chr11 7749948 7750885 7728401 7729338 +PA31958 392133 HGNC:14758 ENSG00000176510 olfactory receptor family 10 subfamily AC member 1 (gene/pseudogene) OR10AC1 """olfactory receptor, family 10, subfamily AC, member 1 (gene/pseudogene)"", ""olfactory receptor, family 10, subfamily AC, member 1 pseudogene""" OR10AC1P Yes No Ensembl:ENSG00000176510, GenAtlas:OR10AC1P, GeneCard:OR10AC1P, HGNC:HGNC:14758, ModBase:Q8NH08, NCBI Gene:392133, RefSeq DNA:NG_004374, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 143208060 143209004 143510967 143511911 +PA31959 121275 HGNC:14819 ENSG00000172640 olfactory receptor family 10 subfamily AD member 1 OR10AD1 olfactory receptor, family 10, subfamily AD, member 1 OR10AD1P Yes No Ensembl:ENSG00000172640, GeneCard:OR10AD1, HGNC:HGNC:14819, ModBase:Q8NGE0, NCBI Gene:121275, RefSeq DNA:NT_029419, RefSeq Protein:NP_001004134, RefSeq RNA:NM_001004134, UniProtKB:Q8NGE0 No chr12 48595620 48599103 48202339 48203292 +PA31960 81486 HGNC:14990 ENSG00000271890 olfactory receptor, family 10, subfamily AE, member 1 pseudogene OR10AE1P Yes No Ensembl:ENSG00000271890, GenAtlas:OR10AE1P, GeneCard:OR10AE1P, HGNC:HGNC:14990, NCBI Gene:81486, RefSeq DNA:NG_004277, RefSeq DNA:NT_004487 No chr1 159551413 159552010 159581623 159582220 +PA134987112 403223 HGNC:31235 ENSG00000272837 olfactory receptor, family 10, subfamily AE, member 3 pseudogene OR10AE3P Yes Yes Ensembl:ENSG00000272837, GeneCard:OR10AE3P, HGNC:HGNC:31235, NCBI Gene:403223, RefSeq DNA:NG_004401, RefSeq DNA:NT_029419 No chr12 56039978 56040446 55646194 55646662 +PA134948967 282769 HGNC:19606 ENSG00000255416 olfactory receptor, family 10, subfamily AF, member 1 pseudogene OR10AF1P Yes No Ensembl:ENSG00000255416, GeneCard:OR10AF1P, HGNC:HGNC:19606, NCBI Gene:282769, RefSeq DNA:NG_004298, RefSeq DNA:NT_167190 No chr11 55715595 55716399 55948119 55948923 +PA134929321 282770 HGNC:19607 ENSG00000174970 olfactory receptor family 10 subfamily AG member 1 OR10AG1 olfactory receptor, family 10, subfamily AG, member 1 Yes No Ensembl:ENSG00000174970, GeneCard:OR10AG1, HGNC:HGNC:19607, ModBase:Q8NH19, NCBI Gene:282770, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005491, RefSeq RNA:NM_001005491, UniProtKB:Q8NH19 No chr11 55735034 55735939 55967558 55968463 +PA134931042 402246 HGNC:19647 ENSG00000272595 olfactory receptor, family 10, subfamily AH, member 1 pseudogene OR10AH1P Yes No Ensembl:ENSG00000272595, GeneCard:OR10AH1P, HGNC:HGNC:19647, NCBI Gene:402246, RefSeq DNA:NG_004397, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 5156721 5157719 5117090 5118088 +PA134993183 403224 HGNC:31236 ENSG00000254807 olfactory receptor, family 10, subfamily AK, member 1 pseudogene OR10AK1P Yes No Ensembl:ENSG00000254807, GeneCard:OR10AK1P, HGNC:HGNC:31236, NCBI Gene:403224, RefSeq DNA:NG_004402, RefSeq DNA:NT_167190 No chr11 55724691 55725105 55957215 55957629 +PA31961 401903 HGNC:8163 ENSG00000267961 olfactory receptor, family 10, subfamily B, member 1 pseudogene OR10B1P Yes No Ensembl:ENSG00000267961, GenAtlas:OR10B1P, GeneCard:OR10B1P, HGNC:HGNC:8163, NCBI Gene:401903, RefSeq DNA:NG_002201, RefSeq DNA:NT_011295 No chr19 15251943 15252849 15141132 15142038 +PA31962 442194 HGNC:8165 ENSG00000206474, ENSG00000220550, ENSG00000224234, ENSG00000230505, ENSG00000232397 olfactory receptor family 10 subfamily C member 1 OR10C1 """olfactory receptor family 10 subfamily C member 1 (gene/pseudogene)"", ""olfactory receptor, family 10, subfamily C, member 1"", ""olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)""" OR10C1P, OR10C2, hs6M1-17 Yes No Ensembl:ENSG00000206474, Ensembl:ENSG00000220550, Ensembl:ENSG00000224234, Ensembl:ENSG00000230505, Ensembl:ENSG00000232397, GenAtlas:OR10C1, GeneCard:OR10C1, HGNC:HGNC:8165, ModBase:Q96KK4, NCBI Gene:442194, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_039229, RefSeq RNA:NM_013941, UCSC Genome Browser:NM_013941, UniProtKB:Q6IFQ5 No chr6 29407716 29408754 29439939 29440977 +PA31963 26541 HGNC:8166 ENSG00000196403 olfactory receptor, family 10, subfamily D, member 1 pseudogene OR10D1P HTPCRX03, OST074 Yes No Ensembl:ENSG00000196403, GenAtlas:OR10D1P, GeneCard:OR10D1P, HGNC:HGNC:8166, NCBI Gene:26541, RefSeq DNA:NG_004126, RefSeq DNA:NT_033899 No chr11 124029129 124030061 124158422 124159354 +PA31964 26497 HGNC:8168 ENSG00000197309 olfactory receptor family 10 subfamily D member 3 OR10D3 """olfactory receptor family 10 subfamily D member 3 (putative)"", ""olfactory receptor, family 10, subfamily D, member 3 (non-functional)""" HTPCRX09, OR10D3P Yes No Ensembl:ENSG00000197309, GenAtlas:OR10D3P, GeneCard:OR10D3, HGNC:HGNC:8168, ModBase:Q8NH80, NCBI Gene:26497, RefSeq DNA:NG_004125, RefSeq DNA:NT_033899 No chr11 124055978 124056913 124185271 124186206 +PA31965 390266 HGNC:14770 ENSG00000186268 olfactory receptor, family 10, subfamily D, member 4 pseudogene OR10D4P Yes No Ensembl:ENSG00000186268, GenAtlas:OR10D4P, GeneCard:OR10D4P, HGNC:HGNC:14770, ModBase:Q8NGN7, NCBI Gene:390266, RefSeq DNA:NG_003196, RefSeq DNA:NT_033899 No chr11 123964143 123965439 124093436 124094732 +PA31966 79488 HGNC:14838 ENSG00000213182 olfactory receptor, family 10, subfamily D, member 5 pseudogene OR10D5P Yes No Ensembl:ENSG00000213182, GenAtlas:OR10D5P, GeneCard:OR10D5P, HGNC:HGNC:14838, NCBI Gene:79488, RefSeq DNA:NG_002254, RefSeq DNA:NT_033899 No chr11 123925500 123926433 124054793 124055726 +PA31968 26540 HGNC:8169 ENSG00000273586 olfactory receptor, family 10, subfamily G, member 1 pseudogene OR10G1P Yes No Ensembl:ENSG00000273586, GenAtlas:OR10G1P, GeneCard:OR10G1P, HGNC:HGNC:8169, NCBI Gene:26540, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22069935 22071076 21601720 21602914 +PA31969 26534 HGNC:8170 ENSG00000255582 olfactory receptor family 10 subfamily G member 2 OR10G2 olfactory receptor, family 10, subfamily G, member 2 Yes No Ensembl:ENSG00000255582, GenAtlas:OR10G2, GeneCard:OR10G2, HGNC:HGNC:8170, ModBase:Q8NGC3, NCBI Gene:26534, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437, RefSeq Protein:NP_001005466, RefSeq RNA:NM_001005466, UniProtKB:Q8NGC3 No chr14 22102066 22102998 21633836 21634940 +PA31970 26533 HGNC:8171 ENSG00000169208 olfactory receptor family 10 subfamily G member 3 OR10G3 olfactory receptor, family 10, subfamily G, member 3 Yes No Ensembl:ENSG00000169208, GenAtlas:OR10G3, GeneCard:OR10G3, HGNC:HGNC:8171, ModBase:Q8NGC4, NCBI Gene:26533, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437, RefSeq Protein:NP_001005465, RefSeq RNA:NM_001005465, UniProtKB:Q8NGC4 No chr14 22037934 22038875 21569803 21570744 +PA31971 390264 HGNC:14809 ENSG00000254737 olfactory receptor family 10 subfamily G member 4 OR10G4 olfactory receptor, family 10, subfamily G, member 4 Yes No Ensembl:ENSG00000254737, GenAtlas:OR10G4, GeneCard:OR10G4, HGNC:HGNC:14809, ModBase:Q8NGN3, NCBI Gene:390264, RefSeq DNA:NT_033899, RefSeq Protein:NP_001004462, RefSeq RNA:NM_001004462, UniProtKB:Q8NGN3 No chr11 123886282 123887217 124015575 124016510 +PA31972 79515 HGNC:14811 ENSG00000226461 olfactory receptor, family 10, subfamily G, member 5 pseudogene OR10G5P Yes No Ensembl:ENSG00000226461, GenAtlas:OR10G5P, GeneCard:OR10G5P, HGNC:HGNC:14811, NCBI Gene:79515, RefSeq DNA:NG_002261, RefSeq DNA:NT_033899 No chr11 123880219 123881123 124009512 124010416 +PA31973 79490 HGNC:14836 ENSG00000198674 olfactory receptor family 10 subfamily G member 6 OR10G6 olfactory receptor, family 10, subfamily G, member 6 OR10G6P, OR10G6Q Yes No Ensembl:ENSG00000198674, GenAtlas:OR10G6, GeneCard:OR10G6, HGNC:HGNC:14836, ModBase:Q8NH81, NCBI Gene:79490, RefSeq DNA:NG_002255, RefSeq DNA:NT_033899 No chr11 123864873 123865631 123994166 123994924 +PA31974 390265 HGNC:14842 ENSG00000182634 olfactory receptor family 10 subfamily G member 7 OR10G7 olfactory receptor, family 10, subfamily G, member 7 Yes No Ensembl:ENSG00000182634, GenAtlas:OR10G7, GeneCard:OR10G7, HGNC:HGNC:14842, ModBase:Q8NGN6, NCBI Gene:390265, RefSeq DNA:NT_033899, RefSeq Protein:NP_001004463, RefSeq RNA:NM_001004463, UniProtKB:Q8NGN6 No chr11 123908773 123909708 124038066 124039001 +PA31975 219869 HGNC:14845 ENSG00000234560 olfactory receptor family 10 subfamily G member 8 OR10G8 olfactory receptor, family 10, subfamily G, member 8 Yes No Ensembl:ENSG00000234560, GenAtlas:OR10G8, GeneCard:OR10G8, HGNC:HGNC:14845, ModBase:Q8NGN5, NCBI Gene:219869, RefSeq DNA:NT_033899, RefSeq Protein:NP_001004464, RefSeq RNA:NM_001004464, UniProtKB:Q8NGN5 No chr11 123900330 123901265 124029623 124030558 +PA31976 219870 HGNC:15129 ENSG00000236981 olfactory receptor family 10 subfamily G member 9 OR10G9 olfactory receptor, family 10, subfamily G, member 9 OR10G10P Yes No Ensembl:ENSG00000236981, GenAtlas:OR10G9, GeneCard:OR10G9, HGNC:HGNC:15129, ModBase:Q8NGN4, NCBI Gene:219870, RefSeq DNA:NT_033899, RefSeq Protein:NP_001001953, RefSeq RNA:NM_001001953, UniProtKB:Q8NGN4 No chr11 123893720 123894655 124023013 124023948 +PA31977 26539 HGNC:8172 ENSG00000186723 olfactory receptor family 10 subfamily H member 1 OR10H1 olfactory receptor, family 10, subfamily H, member 1 Yes No Ensembl:ENSG00000186723, GenAtlas:OR10H1, GeneCard:OR10H1, HGNC:HGNC:8172, ModBase:Q9Y4A9, NCBI Gene:26539, RefSeq DNA:NT_011295, RefSeq Protein:NP_039228, RefSeq RNA:NM_013940, UCSC Genome Browser:NM_013940, UniProtKB:Q9Y4A9 No chr19 15917817 15918936 15806957 15808759 +PA31978 26538 HGNC:8173 ENSG00000171942 olfactory receptor family 10 subfamily H member 2 OR10H2 olfactory receptor, family 10, subfamily H, member 2 Yes No Ensembl:ENSG00000171942, GenAtlas:OR10H2, GeneCard:OR10H2, HGNC:HGNC:8173, HumanCyc Gene:HS10418, ModBase:O60403, NCBI Gene:26538, RefSeq DNA:NT_011295, RefSeq Protein:NP_039227, RefSeq RNA:NM_013939, UCSC Genome Browser:NM_013939, UniProtKB:O60403 No chr19 15838834 15839862 15728024 15729052 +PA31979 26532 HGNC:8174 ENSG00000171936 olfactory receptor family 10 subfamily H member 3 OR10H3 olfactory receptor, family 10, subfamily H, member 3 Yes No Ensembl:ENSG00000171936, GenAtlas:OR10H3, GeneCard:OR10H3, HGNC:HGNC:8174, HumanCyc Gene:HS10416, ModBase:O60404, NCBI Gene:26532, RefSeq DNA:NT_011295, RefSeq Protein:NP_039226, RefSeq RNA:NM_013938, UCSC Genome Browser:NM_013938, UniProtKB:O60404 No chr19 15852203 15853153 15741393 15742343 +PA31980 126541 HGNC:15388 ENSG00000176231 olfactory receptor family 10 subfamily H member 4 OR10H4 olfactory receptor, family 10, subfamily H, member 4 Yes No Ensembl:ENSG00000176231, GenAtlas:OR10H4, GeneCard:OR10H4, HGNC:HGNC:15388, ModBase:Q8NGA5, NCBI Gene:126541, RefSeq DNA:NT_011295, RefSeq Protein:NP_001004465, RefSeq RNA:NM_001004465, UniProtKB:Q8NGA5 No chr19 16059818 16060768 15949008 15949958 +PA31981 284433 HGNC:15389 ENSG00000172519 olfactory receptor family 10 subfamily H member 5 OR10H5 olfactory receptor, family 10, subfamily H, member 5 Yes No Ensembl:ENSG00000172519, GenAtlas:OR10H5, GeneCard:OR10H5, HGNC:HGNC:15389, ModBase:Q8NGA6, NCBI Gene:284433, RefSeq DNA:NT_011295, RefSeq Protein:NP_001004466, RefSeq RNA:NM_001004466, UniProtKB:Q8NGA6 No chr19 15904859 15905806 15794049 15794996 +PA31982 26476 HGNC:8175 ENSG00000196184 olfactory receptor family 10 subfamily J member 1 OR10J1 olfactory receptor, family 10, subfamily J, member 1 HGMP07J, HSHGMP07J Yes No Ensembl:ENSG00000196184, GenAtlas:OR10J1, GeneCard:OR10J1, HGNC:HGNC:8175, ModBase:P30954, NCBI Gene:26476, RefSeq DNA:NT_004487, RefSeq Protein:NP_036483, RefSeq RNA:NM_012351, UCSC Genome Browser:NM_012351, UniProtKB:P30954 No chr1 159409512 159410600 159406348 159440967 +PA31983 391117 HGNC:14991 ENSG00000248642 olfactory receptor, family 10, subfamily J, member 2 pseudogene OR10J2P Yes No Ensembl:ENSG00000248642, GenAtlas:OR10J2P, GeneCard:OR10J2P, HGNC:HGNC:14991, NCBI Gene:391117, RefSeq DNA:NG_004364, RefSeq DNA:NT_004487 No chr1 159248833 159249790 159279043 159280000 +PA31984 441911 HGNC:14992 ENSG00000196266 olfactory receptor family 10 subfamily J member 3 (gene/pseudogene) OR10J3 """olfactory receptor family 10 subfamily J member 3"", ""olfactory receptor, family 10, subfamily J, member 3""" OR10J3P Yes No Ensembl:ENSG00000196266, GenAtlas:OR10J3, GeneCard:OR10J3, HGNC:HGNC:14992, ModBase:Q5JRS4, NCBI Gene:441911, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004467, RefSeq RNA:NM_001004467, UniProtKB:Q5JRS4 No chr1 159283460 159284449 159313670 159314659 +PA31985 391121 HGNC:15408 ENSG00000249730 olfactory receptor family 10 subfamily J member 4 (gene/pseudogene) OR10J4 olfactory receptor, family 10, subfamily J, member 4 (gene/pseudogene) OR10J4P, OST717 Yes No Ensembl:ENSG00000249730, GenAtlas:OR10J4P, GeneCard:OR10J4, HGNC:HGNC:15408, NCBI Gene:391121, RefSeq DNA:NG_004367, RefSeq DNA:NT_004487 No chr1 159401995 159402926 159432205 159433136 +PA31986 127385 HGNC:14993 ENSG00000184155 olfactory receptor family 10 subfamily J member 5 OR10J5 olfactory receptor, family 10, subfamily J, member 5 Yes No Ensembl:ENSG00000184155, GenAtlas:OR10J5, GeneCard:OR10J5, HGNC:HGNC:14993, ModBase:Q8NHC4, NCBI Gene:127385, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004469, RefSeq RNA:NM_001004469, UniProtKB:Q8NHC4 No chr1 159504868 159505797 159535078 159536007 +PA31987 401973 HGNC:14994 ENSG00000158731 olfactory receptor, family 10, subfamily J, member 6 pseudogene OR10J6P Yes No Ensembl:ENSG00000158731, GenAtlas:OR10J6P, GeneCard:OR10J6P, HGNC:HGNC:14994, ModBase:Q8NGY7, NCBI Gene:401973, RefSeq DNA:NG_004393, RefSeq DNA:NT_004487 No chr1 159568089 159569015 159598299 159599225 +PA134864740 391119 HGNC:19637 ENSG00000248442 olfactory receptor, family 10, subfamily J, member 7 pseudogene OR10J7P Yes No Ensembl:ENSG00000248442, GeneCard:OR10J7P, HGNC:HGNC:19637, NCBI Gene:391119, RefSeq DNA:NG_004365, RefSeq DNA:NT_004487 No chr1 159320841 159321813 159351051 159352023 +PA134909314 343409 HGNC:19638 ENSG00000251686 olfactory receptor, family 10, subfamily J, member 8 pseudogene OR10J8P Yes No Ensembl:ENSG00000251686, GeneCard:OR10J8P, HGNC:HGNC:19638, NCBI Gene:343409, RefSeq DNA:NG_004308, RefSeq DNA:NT_004487 No chr1 159335951 159336876 159366161 159367086 +PA134879238 391120 HGNC:19639 ENSG00000249197 olfactory receptor, family 10, subfamily J, member 9 pseudogene OR10J9P Yes No Ensembl:ENSG00000249197, GeneCard:OR10J9P, HGNC:HGNC:19639, NCBI Gene:391120, RefSeq DNA:NG_004366, RefSeq DNA:NT_004487 No chr1 159375212 159376198 159405422 159406408 +PA31988 391109 HGNC:14693 ENSG00000173285 olfactory receptor family 10 subfamily K member 1 OR10K1 olfactory receptor, family 10, subfamily K, member 1 Yes No Ensembl:ENSG00000173285, GenAtlas:OR10K1, GeneCard:OR10K1, HGNC:HGNC:14693, ModBase:Q8NGX5, NCBI Gene:391109, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004473, RefSeq RNA:NM_001004473, UniProtKB:Q8NGX5 No chr1 158435352 158436293 158465562 158466503 +PA31989 391107 HGNC:14826 ENSG00000180708 olfactory receptor family 10 subfamily K member 2 OR10K2 olfactory receptor, family 10, subfamily K, member 2 Yes No Ensembl:ENSG00000180708, GenAtlas:OR10K2, GeneCard:OR10K2, HGNC:HGNC:14826, ModBase:Q6IF99, NCBI Gene:391107, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004476, RefSeq RNA:NM_001004476, UniProtKB:Q6IF99 No chr1 158389718 158390656 158419928 158420866 +PA31990 390267 HGNC:14689 ENSG00000213181 olfactory receptor, family 10, subfamily N, member 1 pseudogene OR10N1P Yes No Ensembl:ENSG00000213181, GenAtlas:OR10N1P, GeneCard:OR10N1P, HGNC:HGNC:14689, NCBI Gene:390267, RefSeq DNA:NG_004339, RefSeq DNA:NT_033899 No chr11 123975759 123976681 124105052 124105974 +PA31991 121130 HGNC:15378 ENSG00000175398 olfactory receptor family 10 subfamily P member 1 OR10P1 olfactory receptor, family 10, subfamily P, member 1 OR10P1P, OR10P2P, OR10P3P, OST701 Yes Yes Ensembl:ENSG00000175398, GenAtlas:OR10P1, GeneCard:OR10P1, HGNC:HGNC:15378, ModBase:Q8NGE3, NCBI Gene:121130, RefSeq DNA:NT_029419, RefSeq Protein:NP_996782, RefSeq RNA:NM_206899, UniProtKB:Q8NGE3 No chr12 56030676 56031617 55636892 55637833 +PA31994 219960 HGNC:15134 ENSG00000180475 olfactory receptor family 10 subfamily Q member 1 OR10Q1 olfactory receptor, family 10, subfamily Q, member 1 Yes No Ensembl:ENSG00000180475, GenAtlas:OR10Q1, GeneCard:OR10Q1, HGNC:HGNC:15134, ModBase:Q8NGQ4, NCBI Gene:219960, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004471, RefSeq RNA:NM_001004471, UniProtKB:Q8NGQ4 No chr11 57995354 57996390 58227882 58228918 +PA31995 81345 HGNC:15135 ENSG00000272900 olfactory receptor, family 10, subfamily Q, member 2 pseudogene OR10Q2P Yes No Ensembl:ENSG00000272900, GenAtlas:OR10Q2P, GeneCard:OR10Q2P, HGNC:HGNC:15135, NCBI Gene:81345, RefSeq DNA:NG_004249, RefSeq DNA:NT_167190 No chr11 58059301 58060243 58291829 58292771 +PA31996 79513 HGNC:14813 ENSG00000227445 olfactory receptor, family 10, subfamily R, member 1 pseudogene OR10R1P Yes No Ensembl:ENSG00000227445, GenAtlas:OR10R1P, GeneCard:OR10R1P, HGNC:HGNC:14813, NCBI Gene:79513, RefSeq DNA:NG_002259, RefSeq DNA:NT_004487 No chr1 158484575 158485715 158514785 158515925 +PA31997 343406 HGNC:14820 ENSG00000198965 olfactory receptor family 10 subfamily R member 2 OR10R2 olfactory receptor, family 10, subfamily R, member 2 OR10R2Q Yes No Ensembl:ENSG00000198965, GenAtlas:OR10R2, GeneCard:OR10R2, HGNC:HGNC:14820, ModBase:Q8NGX6, NCBI Gene:343406, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004472, RefSeq RNA:NM_001004472, UniProtKB:Q8NGX6 No chr1 158449668 158450675 158479878 158480885 +PA31998 391110 HGNC:14829 ENSG00000198703 olfactory receptor, family 10, subfamily R, member 3 pseudogene OR10R3P Yes No Ensembl:ENSG00000198703, GenAtlas:OR10R3P, GeneCard:OR10R3P, HGNC:HGNC:14829, NCBI Gene:391110, RefSeq DNA:NG_004362, RefSeq DNA:NT_004487 No chr1 158461010 158461948 158491220 158492158 +PA31999 219873 HGNC:14807 ENSG00000196248 olfactory receptor family 10 subfamily S member 1 OR10S1 olfactory receptor, family 10, subfamily S, member 1 Yes No Ensembl:ENSG00000196248, GenAtlas:OR10S1, GeneCard:OR10S1, HGNC:HGNC:14807, ModBase:Q8NGN2, NCBI Gene:219873, RefSeq DNA:NT_033899, RefSeq Protein:NP_001004474, RefSeq RNA:NM_001004474, UniProtKB:Q8NGN2 No chr11 123847403 123848398 123976696 123977691 +PA32000 79514 HGNC:14812 ENSG00000203758 olfactory receptor, family 10, subfamily T, member 1 pseudogene OR10T1P Yes No Ensembl:ENSG00000203758, GenAtlas:OR10T1P, GeneCard:OR10T1P, HGNC:HGNC:14812, NCBI Gene:79514, RefSeq DNA:NG_002260, RefSeq DNA:NT_004487 No chr1 158414858 158415804 158445068 158446014 +PA32001 128360 HGNC:14816 ENSG00000186306 olfactory receptor family 10 subfamily T member 2 OR10T2 olfactory receptor, family 10, subfamily T, member 2 Yes No Ensembl:ENSG00000186306, GenAtlas:OR10T2, GeneCard:OR10T2, HGNC:HGNC:14816, ModBase:Q8NGX3, NCBI Gene:128360, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004475, RefSeq RNA:NM_001004475, UniProtKB:Q8NGX3 No chr1 158368312 158369256 158398522 158399466 +PA32002 390318 HGNC:15332 ENSG00000227423 olfactory receptor, family 10, subfamily U, member 1 pseudogene OR10U1P Yes No Ensembl:ENSG00000227423, GenAtlas:OR10U1P, GeneCard:OR10U1P, HGNC:HGNC:15332, NCBI Gene:390318, RefSeq DNA:NG_004344, RefSeq DNA:NT_029419 No chr12 55587644 55588599 55193860 55194815 +PA32003 390201 HGNC:15136 ENSG00000172289 olfactory receptor family 10 subfamily V member 1 OR10V1 olfactory receptor, family 10, subfamily V, member 1 Yes No Ensembl:ENSG00000172289, GenAtlas:OR10V1, GeneCard:OR10V1, HGNC:HGNC:15136, ModBase:Q8NGI7, NCBI Gene:390201, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005324, RefSeq RNA:NM_001005324, UniProtKB:Q8NGI7 No chr11 59480389 59481318 59712916 59713845 +PA32004 81343 HGNC:15137 ENSG00000255538 olfactory receptor, family 10, subfamily V, member 2 pseudogene OR10V2P Yes No Ensembl:ENSG00000255538, GenAtlas:OR10V2P, GeneCard:OR10V2P, HGNC:HGNC:15137, NCBI Gene:81343, RefSeq DNA:NG_004248, RefSeq DNA:NT_167190 No chr11 59516285 59517054 59748812 59749581 +PA32005 81342 HGNC:15138 ENSG00000254743 olfactory receptor, family 10, subfamily V, member 3 pseudogene OR10V3P Yes No Ensembl:ENSG00000254743, GenAtlas:OR10V3P, GeneCard:OR10V3P, HGNC:HGNC:15138, NCBI Gene:81342, RefSeq DNA:NG_004247, RefSeq DNA:NT_167190 No chr11 59508799 59509523 59741326 59742050 +PA134862560 403225 HGNC:31237 olfactory receptor, family 10, subfamily V, member 7 pseudogene OR10V7P Yes No GeneCard:OR10V7P, HGNC:HGNC:31237, NCBI Gene:403225, RefSeq DNA:NG_005817, RefSeq DNA:NT_026437 No chr14 42575081 42575380 42105878 42106177 +PA32006 81341 HGNC:15139 ENSG00000172772 olfactory receptor family 10 subfamily W member 1 OR10W1 olfactory receptor, family 10, subfamily W, member 1 OR10W1P Yes No Ensembl:ENSG00000172772, GenAtlas:OR10W1, GeneCard:OR10W1, HGNC:HGNC:15139, ModBase:Q8NGF6, NCBI Gene:81341, RefSeq DNA:NT_167190, RefSeq Protein:NP_997257, RefSeq RNA:NM_207374, UniProtKB:Q8NGF6 No chr11 58034264 58035732 58266792 58268260 +PA32007 128367 HGNC:14995 ENSG00000279111 olfactory receptor family 10 subfamily X member 1 OR10X1 """olfactory receptor family 10 subfamily X member 1 (gene/pseudogene)"", ""olfactory receptor, family 10, subfamily X, member 1"", ""olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)""" OR10X1P Yes No Ensembl:ENSG00000279111, GenAtlas:OR10X1, GeneCard:OR10X1, HGNC:HGNC:14995, ModBase:Q8NGY0, NCBI Gene:128367, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004477, RefSeq RNA:NM_001004477, UniProtKB:Q8NGY0 No chr1 158548709 158549689 158578919 158579899 +PA32008 81340 HGNC:15140 ENSG00000254403 olfactory receptor, family 10, subfamily Y, member 1 pseudogene OR10Y1P Yes No Ensembl:ENSG00000254403, GenAtlas:OR10Y1P, GeneCard:OR10Y1P, HGNC:HGNC:15140, NCBI Gene:81340, RefSeq DNA:NG_004245, RefSeq DNA:NT_167190 No chr11 59495993 59496966 59728520 59729493 +PA32009 128368 HGNC:14996 ENSG00000198967 olfactory receptor family 10 subfamily Z member 1 OR10Z1 olfactory receptor, family 10, subfamily Z, member 1 Yes No Ensembl:ENSG00000198967, GenAtlas:OR10Z1, GeneCard:OR10Z1, HGNC:HGNC:14996, ModBase:Q8NGY1, NCBI Gene:128368, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004478, RefSeq RNA:NM_001004478, UniProtKB:Q8NGY1 No chr1 158576229 158577170 158606439 158607380 +PA32010 26531 HGNC:8176 ENSG00000204694, ENSG00000206472, ENSG00000206517, ENSG00000230780, ENSG00000232289, ENSG00000234347, ENSG00000237258 olfactory receptor family 11 subfamily A member 1 OR11A1 olfactory receptor, family 11, subfamily A, member 1 OR11A2, hs6M1-18 Yes No Ensembl:ENSG00000204694, Ensembl:ENSG00000206472, Ensembl:ENSG00000206517, Ensembl:ENSG00000230780, Ensembl:ENSG00000232289, Ensembl:ENSG00000234347, Ensembl:ENSG00000237258, GenAtlas:OR11A1, GeneCard:OR11A1, HGNC:HGNC:8176, ModBase:Q9GZK7, NCBI Gene:26531, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_039225, RefSeq RNA:NM_013937, UCSC Genome Browser:NM_013937, UniProtKB:Q9GZK7 No chr6 29393281 29424848 29425504 29427732 +PA32011 390438 HGNC:15345 ENSG00000258468 olfactory receptor, family 11, subfamily G, member 1 pseudogene OR11G1P Yes No Ensembl:ENSG00000258468, GenAtlas:OR11G1P, GeneCard:OR11G1P, HGNC:HGNC:15345, NCBI Gene:390438, RefSeq DNA:NG_004352, RefSeq DNA:NT_026437 No chr14 20647286 20648294 20179127 20180135 +PA32012 390439 HGNC:15346 ENSG00000196832 olfactory receptor family 11 subfamily G member 2 OR11G2 olfactory receptor, family 11, subfamily G, member 2 Yes No Ensembl:ENSG00000196832, GenAtlas:OR11G2, GeneCard:OR11G2, HGNC:HGNC:15346, ModBase:Q8NGC1, NCBI Gene:390439, RefSeq DNA:NT_026437, RefSeq Protein:NP_001005503, RefSeq RNA:NM_001005503, UniProtKB:Q8NGC1 No chr14 20665495 20666532 20197336 20198373 +PA32013 81061 HGNC:15404 ENSG00000130538 olfactory receptor family 11 subfamily H member 1 OR11H1 olfactory receptor, family 11, subfamily H, member 1 OR22-1 Yes No Ensembl:ENSG00000130538, GenAtlas:OR11H1, GeneCard:OR11H1, HGNC:HGNC:15404, ModBase:Q8NG94, NCBI Gene:81061, RefSeq DNA:NT_028395, RefSeq Protein:NP_001005239, RefSeq RNA:NM_001005239, UniProtKB:Q8NG94 No chr22 16448824 16449804 15528159 15529139 +PA142671220 440153 HGNC:30738 ENSG00000257115 olfactory receptor family 11 subfamily H member 12 OR11H12 olfactory receptor, family 11, subfamily H, member 12 Yes No Ensembl:ENSG00000257115, GeneCard:OR11H12, HGNC:HGNC:30738, ModBase:B2RN74, NCBI Gene:440153, RefSeq DNA:NT_026437, RefSeq Protein:NP_001013372, RefSeq RNA:NM_001013354, UniProtKB:B2RN74 No chr14 19377594 19378574 18601117 18602097 +PA142671221 440159 HGNC:29997 ENSG00000196143 olfactory receptor, family 11, subfamily H, member 13 pseudogene OR11H13P Yes No Ensembl:ENSG00000196143, GeneCard:OR11H13P, HGNC:HGNC:29997, NCBI Gene:440159, RefSeq DNA:NG_004865, RefSeq DNA:NT_026437 No chr14 19806435 19807415 19180291 19181271 +PA32014 79334 HGNC:14716 ENSG00000258453 olfactory receptor family 11 subfamily H member 2 OR11H2 olfactory receptor, family 11, subfamily H, member 2 C14orf15, OR11H2P, OR11H8P Yes No Ensembl:ENSG00000258453, GenAtlas:OR11H2, GeneCard:OR11H2, HGNC:HGNC:14716, ModBase:Q8NH07, NCBI Gene:79334, RefSeq DNA:NG_004141, RefSeq DNA:NT_026437, RefSeq Protein:NP_001184216, RefSeq RNA:NM_001197287 No chr14 20181063 20182491 19712904 19714332 +PA32015 81113 HGNC:15367 ENSG00000258721 olfactory receptor, family 11, subfamily H, member 3 pseudogene OR11H3P Yes No Ensembl:ENSG00000258721, GenAtlas:OR11H3P, GeneCard:OR11H3P, HGNC:HGNC:15367, NCBI Gene:81113, RefSeq DNA:NG_004166, RefSeq DNA:NT_077631 No chr15 22297500 22298446 22009549 22010495 +PA32016 390442 HGNC:15347 ENSG00000176198 olfactory receptor family 11 subfamily H member 4 OR11H4 olfactory receptor, family 11, subfamily H, member 4 Yes No Ensembl:ENSG00000176198, GenAtlas:OR11H4, GeneCard:OR11H4, HGNC:HGNC:15347, ModBase:Q8NGC9, NCBI Gene:390442, RefSeq DNA:NT_026437, RefSeq Protein:NP_001004479, RefSeq RNA:NM_001004479, UniProtKB:Q8NGC9 No chr14 20710951 20711925 20242792 20243766 +PA32017 390440 HGNC:15348 ENSG00000258625 olfactory receptor, family 11, subfamily H, member 5 pseudogene OR11H5P Yes No Ensembl:ENSG00000258625, GenAtlas:OR11H5P, GeneCard:OR11H5P, HGNC:HGNC:15348, NCBI Gene:390440, RefSeq DNA:NG_004353, RefSeq DNA:NT_026437 No chr14 20677457 20678355 20209298 20210196 +PA32018 122748 HGNC:15349 ENSG00000176219 olfactory receptor family 11 subfamily H member 6 OR11H6 olfactory receptor, family 11, subfamily H, member 6 Yes No Ensembl:ENSG00000176219, GenAtlas:OR11H6, GeneCard:OR11H6, HGNC:HGNC:15349, ModBase:Q8NGC7, NCBI Gene:122748, RefSeq DNA:NT_026437, RefSeq Protein:NP_001004480, RefSeq RNA:NM_001004480, UniProtKB:Q8NGC7 No chr14 20691869 20692861 20223710 20224702 +PA32019 390441 HGNC:15350 ENSG00000258806 olfactory receptor family 11 subfamily H member 7 (gene/pseudogene) OR11H7 olfactory receptor, family 11, subfamily H, member 7 (gene/pseudogene) OR11H7P Yes No Ensembl:ENSG00000258806, GenAtlas:OR11H7P, GeneCard:OR11H7, HGNC:HGNC:15350, NCBI Gene:390441, RefSeq DNA:NG_004354, RefSeq DNA:NT_026437 No chr14 20697562 20698503 20229403 20230344 +PA32020 81479 HGNC:14997 ENSG00000232791 olfactory receptor, family 11, subfamily I, member 1 pseudogene OR11I1P Yes No Ensembl:ENSG00000232791, GenAtlas:OR11I1P, GeneCard:OR11I1P, HGNC:HGNC:14997, NCBI Gene:81479, RefSeq DNA:NG_003221, RefSeq DNA:NT_032977 No chr1 111396721 111397714 110854099 110855092 +PA32022 81111 HGNC:15369 olfactory receptor, family 11, subfamily J, member 1 pseudogene OR11J1P Yes No GenAtlas:OR11J1P, GeneCard:OR11J1P, HGNC:HGNC:15369, NCBI Gene:81111, RefSeq DNA:NG_004165, RefSeq DNA:NT_077631 No chr15 22268236 22269195 21542998 21543957 +PA32023 81110 HGNC:15370 ENSG00000258855 olfactory receptor, family 11, subfamily J, member 2 pseudogene OR11J2P Yes No Ensembl:ENSG00000258855, GenAtlas:OR11J2P, GeneCard:OR11J2P, HGNC:HGNC:15370, NCBI Gene:81110, RefSeq DNA:NG_004164, RefSeq DNA:NT_037852 No chr15 21165991 21166936 20960662 20961607 +PA134875267 403226 HGNC:31238 ENSG00000258494 olfactory receptor, family 11, subfamily J, member 5 pseudogene OR11J5P Yes No Ensembl:ENSG00000258494, GeneCard:OR11J5P, HGNC:HGNC:31238, NCBI Gene:403226, RefSeq DNA:NG_004403, RefSeq DNA:NT_037852 No chr15 21174579 21175538 20969250 20970209 +PA32024 81109 HGNC:15371 ENSG00000283680 olfactory receptor, family 11, subfamily K, member 1 pseudogene OR11K1P Yes No Ensembl:ENSG00000283680, GenAtlas:OR11K1P, GeneCard:OR11K1P, HGNC:HGNC:15371, NCBI Gene:81109, RefSeq DNA:NG_004163, RefSeq DNA:NT_077631 No chr15 22318853 22319781 22030902 22031830 +PA134940436 401742 HGNC:19635 ENSG00000258438 olfactory receptor, family 11, subfamily K, member 2 pseudogene OR11K2P Yes No Ensembl:ENSG00000258438, GeneCard:OR11K2P, HGNC:HGNC:19635, NCBI Gene:401742, RefSeq DNA:NG_004392, RefSeq DNA:NT_026437 No chr14 20201504 20202451 19733345 19734292 +PA32025 391189 HGNC:14998 ENSG00000197591 olfactory receptor family 11 subfamily L member 1 OR11L1 olfactory receptor, family 11, subfamily L, member 1 Yes No Ensembl:ENSG00000197591, GenAtlas:OR11L1, GeneCard:OR11L1, HGNC:HGNC:14998, ModBase:Q8NGX0, NCBI Gene:391189, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001959, RefSeq RNA:NM_001001959, UniProtKB:Q8NGX0 No chr1 248004230 248005198 247840928 247841896 +PA32026 121270 HGNC:15333 ENSG00000224709 olfactory receptor, family 11, subfamily M, member 1 pseudogene OR11M1P Yes No Ensembl:ENSG00000224709, GenAtlas:OR11M1P, GeneCard:OR11M1P, HGNC:HGNC:15333, NCBI Gene:121270, RefSeq DNA:NG_004284, RefSeq DNA:NT_029419 No chr12 49021624 49022596 48627841 48628813 +PA134949172 392540 HGNC:19582 ENSG00000185903 olfactory receptor, family 11, subfamily N, member 1 pseudogene OR11N1P Yes No Ensembl:ENSG00000185903, GeneCard:OR11N1P, HGNC:HGNC:19582, NCBI Gene:392540, RefSeq DNA:NG_004381, RefSeq DNA:NT_011786 No chrX 130458308 130459287 131324334 131325313 +PA134892944 282795 HGNC:19636 ENSG00000284742 olfactory receptor, family 11, subfamily P, member 1 pseudogene OR11P1P Yes No Ensembl:ENSG00000284742, GeneCard:OR11P1P, HGNC:HGNC:19636, NCBI Gene:282795, RefSeq DNA:NG_004302, RefSeq DNA:NT_026437 No chr14 20652084 20652457 20183925 20184298 +PA134991246 403227 HGNC:31239 ENSG00000237650 olfactory receptor, family 11, subfamily Q, member 1 pseudogene OR11Q1P Yes No Ensembl:ENSG00000237650, GeneCard:OR11Q1P, HGNC:HGNC:31239, NCBI Gene:403227, RefSeq DNA:NG_004404, RefSeq DNA:NT_011786 No chrX 130338070 130339018 131204096 131205044 +PA32027 26530 HGNC:8177 ENSG00000251608 olfactory receptor family 12 subfamily D member 1 (gene/pseudogene) OR12D1 """olfactory receptor, family 12, subfamily D, member 1 (gene/pseudogene)"", ""olfactory receptor, family 12, subfamily D, member 1 pseudogene""" OR12D1P, hs6M1-19 Yes No Ensembl:ENSG00000251608, GenAtlas:OR12D1P, GeneCard:OR12D1P, HGNC:HGNC:8177, NCBI Gene:26530, RefSeq DNA:NG_002196, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29384942 29386073 29417165 29418296 +PA32028 26529 HGNC:8178 ENSG00000280236 olfactory receptor family 12 subfamily D member 2 OR12D2 """olfactory receptor family 12 subfamily D member 2 (gene/pseudogene)"", ""olfactory receptor, family 12, subfamily D, member 2"", ""olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)""" hs6M1-20 Yes No Ensembl:ENSG00000280236, GenAtlas:OR12D2, GeneCard:OR12D2, HGNC:HGNC:8178, HumanCyc Gene:HS09824, ModBase:P58182, NCBI Gene:26529, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167249, RefSeq Protein:NP_039224, RefSeq RNA:NM_013936, UCSC Genome Browser:NM_013936, UniProtKB:P58182 No chr6 29364416 29365448 29396639 29397671 +PA32029 81797 HGNC:13963 ENSG00000112462, ENSG00000204692, ENSG00000224487, ENSG00000242022 olfactory receptor family 12 subfamily D member 3 OR12D3 olfactory receptor, family 12, subfamily D, member 3 hs6M1-27 Yes No Ensembl:ENSG00000112462, Ensembl:ENSG00000204692, Ensembl:ENSG00000224487, Ensembl:ENSG00000242022, GenAtlas:OR12D3, GeneCard:OR12D3, HGNC:HGNC:13963, HumanCyc Gene:HS03573, HumanCyc Gene:HS11593, ModBase:Q9UGF7, NCBI Gene:81797, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167249, RefSeq Protein:NP_112221, RefSeq RNA:NM_030959, UCSC Genome Browser:NM_030959, UniProtKB:D2XT27, UniProtKB:Q9UGF7 No chr6 29341200 29343068 29373423 29375291 +PA32030 79290 HGNC:14772 ENSG00000172678, ENSG00000256574 olfactory receptor family 13 subfamily A member 1 OR13A1 olfactory receptor, family 13, subfamily A, member 1 Yes No Ensembl:ENSG00000172678, Ensembl:ENSG00000256574, GenAtlas:OR13A1, GeneCard:OR13A1, HGNC:HGNC:14772, ModBase:Q8NGR1, NCBI Gene:79290, RefSeq DNA:NT_033985, RefSeq Protein:NP_001004297, RefSeq RNA:NM_001004297, UniProtKB:Q8NGR1 No chr10 45798102 45811056 45302294 45315608 +PA32031 392377 HGNC:14699 ENSG00000235248 olfactory receptor, family 13, subfamily C, member 1 pseudogene OR13C1P Yes No Ensembl:ENSG00000235248, GenAtlas:OR13C1P, GeneCard:OR13C1P, HGNC:HGNC:14699, NCBI Gene:392377, RefSeq DNA:NG_002246, RefSeq DNA:NT_008470 No chr9 107419044 107419997 104656763 104657716 +PA32032 392376 HGNC:14701 ENSG00000276119 olfactory receptor family 13 subfamily C member 2 OR13C2 olfactory receptor, family 13, subfamily C, member 2 Yes No Ensembl:ENSG00000276119, GenAtlas:OR13C2, GeneCard:OR13C2, HGNC:HGNC:14701, ModBase:Q8NGS9, NCBI Gene:392376, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004481, RefSeq RNA:NM_001004481, UniProtKB:Q8NGS9 No chr9 107366952 107367908 104604671 104605627 +PA32033 138803 HGNC:14704 ENSG00000204246 olfactory receptor family 13 subfamily C member 3 OR13C3 olfactory receptor, family 13, subfamily C, member 3 Yes No Ensembl:ENSG00000204246, GenAtlas:OR13C3, GeneCard:OR13C3, HGNC:HGNC:14704, ModBase:Q8NGS6, NCBI Gene:138803, RefSeq DNA:NT_008470, RefSeq Protein:NP_001001961, RefSeq RNA:NM_001001961, UniProtKB:Q8NGS6 No chr9 107298051 107299094 104535770 104536813 +PA32034 138804 HGNC:14722 ENSG00000148136 olfactory receptor family 13 subfamily C member 4 OR13C4 olfactory receptor, family 13, subfamily C, member 4 Yes No Ensembl:ENSG00000148136, GenAtlas:OR13C4, GeneCard:OR13C4, HGNC:HGNC:14722, ModBase:Q8NGS5, NCBI Gene:138804, RefSeq DNA:NT_008470, RefSeq Protein:NP_001001919, RefSeq RNA:NM_001001919, UniProtKB:Q8NGS5 No chr9 107288534 107289490 104526253 104527209 +PA32035 138799 HGNC:15100 ENSG00000277556 olfactory receptor family 13 subfamily C member 5 OR13C5 olfactory receptor, family 13, subfamily C, member 5 Yes No Ensembl:ENSG00000277556, GenAtlas:OR13C5, GeneCard:OR13C5, HGNC:HGNC:15100, ModBase:Q8NGS8, NCBI Gene:138799, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004482, RefSeq RNA:NM_001004482, UniProtKB:Q8NGS8 No chr9 107360738 107361694 104598457 104599413 +PA32036 392311 HGNC:15101 ENSG00000179443 olfactory receptor, family 13, subfamily C, member 6 pseudogene OR13C6P Yes No Ensembl:ENSG00000179443, GenAtlas:OR13C6P, GeneCard:OR13C6P, HGNC:HGNC:15101, NCBI Gene:392311, RefSeq DNA:NG_004378, RefSeq DNA:NT_008413 No chr9 35991336 35992282 35991339 35992285 +PA32037 81377 HGNC:15102 ENSG00000243641 olfactory receptor family 13 subfamily C member 7 (gene/pseudogene) OR13C7 """olfactory receptor, family 13, subfamily C, member 7 (gene/pseudogene)"", ""olfactory receptor, family 13, subfamily C, member 7 pseudogene""" OR13C7P, OST706 Yes No Ensembl:ENSG00000243641, GeneCard:OR13C7P, HGNC:HGNC:15102, NCBI Gene:81377, RefSeq DNA:NG_002408, RefSeq DNA:NT_008413 No chr9 36002909 36003864 36002912 36003867 +PA32038 138802 HGNC:15103 ENSG00000186943 olfactory receptor family 13 subfamily C member 8 OR13C8 olfactory receptor, family 13, subfamily C, member 8 Yes No Ensembl:ENSG00000186943, GenAtlas:OR13C8, GeneCard:OR13C8, HGNC:HGNC:15103, ModBase:Q8NGS7, NCBI Gene:138802, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004483, RefSeq RNA:NM_001004483, UniProtKB:Q8NGS7 No chr9 107331449 107332411 104569168 104570130 +PA32039 286362 HGNC:15104 ENSG00000136839 olfactory receptor family 13 subfamily C member 9 OR13C9 olfactory receptor, family 13, subfamily C, member 9 Yes No Ensembl:ENSG00000136839, GenAtlas:OR13C9, GeneCard:OR13C9, HGNC:HGNC:15104, ModBase:Q8NGT0, NCBI Gene:286362, RefSeq DNA:NT_008470, RefSeq Protein:NP_001001956, RefSeq RNA:NM_001001956, UniProtKB:Q8NGT0 No chr9 107379529 107380485 104617248 104618204 +PA32040 286365 HGNC:14695 ENSG00000179055 olfactory receptor family 13 subfamily D member 1 OR13D1 olfactory receptor, family 13, subfamily D, member 1 Yes No Ensembl:ENSG00000179055, GenAtlas:OR13D1, GeneCard:OR13D1, HGNC:HGNC:14695, ModBase:Q8NGV5, NCBI Gene:286365, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004484, RefSeq RNA:NM_001004484, UniProtKB:Q8NGV5 No chr9 107456703 107457743 104694422 104695462 +PA32041 392375 HGNC:15105 ENSG00000237443 olfactory receptor, family 13, subfamily D, member 2 pseudogene OR13D2P Yes No Ensembl:ENSG00000237443, GenAtlas:OR13D2P, GeneCard:OR13D2P, HGNC:HGNC:15105, NCBI Gene:392375, RefSeq DNA:NG_004380, RefSeq DNA:NT_008470 No chr9 107352299 107353232 104590018 104590951 +PA32042 402374 HGNC:15106 ENSG00000188712 olfactory receptor, family 13, subfamily D, member 3 pseudogene OR13D3P Yes No Ensembl:ENSG00000188712, GenAtlas:OR13D3P, GeneCard:OR13D3P, HGNC:HGNC:15106, NCBI Gene:402374, RefSeq DNA:NG_004400, RefSeq DNA:NT_008470 No chr9 107484617 107485550 104722336 104723269 +PA32043 392308 HGNC:15107 ENSG00000236083 olfactory receptor, family 13, subfamily E, member 1 pseudogene OR13E1P OST741 Yes No Ensembl:ENSG00000236083, GenAtlas:OR13E1P, GeneCard:OR13E1P, HGNC:HGNC:15107, NCBI Gene:392308, RefSeq DNA:NG_004377, RefSeq DNA:NT_008413 No chr9 35859022 35859977 35859025 35859980 +PA32045 138805 HGNC:14723 ENSG00000186881 olfactory receptor family 13 subfamily F member 1 OR13F1 olfactory receptor, family 13, subfamily F, member 1 Yes No Ensembl:ENSG00000186881, GenAtlas:OR13F1, GeneCard:OR13F1, HGNC:HGNC:14723, ModBase:Q8NGS4, NCBI Gene:138805, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004485, RefSeq RNA:NM_001004485, UniProtKB:Q8NGS4 No chr9 107266544 107267503 104504263 104505222 +PA32046 441933 HGNC:14999 ENSG00000197437 olfactory receptor family 13 subfamily G member 1 OR13G1 olfactory receptor, family 13, subfamily G, member 1 Yes No Ensembl:ENSG00000197437, GenAtlas:OR13G1, GeneCard:OR13G1, HGNC:HGNC:14999, ModBase:Q8NGZ3, NCBI Gene:441933, OMIM:611677, RefSeq DNA:NT_167186, RefSeq Protein:NP_001005487, RefSeq RNA:NM_001005487, UniProtKB:Q8NGZ3 No chr1 247835420 247836343 247672118 247673041 +PA32047 347468 HGNC:14755 ENSG00000171054 olfactory receptor family 13 subfamily H member 1 OR13H1 olfactory receptor, family 13, subfamily H, member 1 Yes No Ensembl:ENSG00000171054, GenAtlas:OR13H1, GeneCard:OR13H1, HGNC:HGNC:14755, ModBase:Q8NG92, NCBI Gene:347468, RefSeq DNA:NT_011786, RefSeq Protein:NP_001004486, RefSeq RNA:NM_001004486, UniProtKB:Q8NG92 No chrX 130678048 130678974 131544074 131545000 +PA32048 79538 HGNC:14732 ENSG00000273423 olfactory receptor, family 13, subfamily I, member 1 pseudogene OR13I1P Yes No Ensembl:ENSG00000273423, GenAtlas:OR13I1P, GeneCard:OR13I1P, HGNC:HGNC:14732, NCBI Gene:79538, RefSeq DNA:NG_004626, RefSeq DNA:NT_008470 No chr9 107392036 107393300 104629755 104631019 +PA32049 392309 HGNC:15108 ENSG00000168828 olfactory receptor family 13 subfamily J member 1 OR13J1 olfactory receptor, family 13, subfamily J, member 1 Yes No Ensembl:ENSG00000168828, GenAtlas:OR13J1, GeneCard:OR13J1, HGNC:HGNC:15108, ModBase:Q8NGT2, NCBI Gene:392309, RefSeq DNA:NT_008413, RefSeq Protein:NP_001004487, RefSeq RNA:NM_001004487, UniProtKB:Q8NGT2 No chr9 35869460 35870398 35869463 35870401 +PA32050 402424 HGNC:14721 ENSG00000237225 olfactory receptor, family 13, subfamily K, member 1 pseudogene OR13K1P Yes No Ensembl:ENSG00000237225, GenAtlas:OR13K1P, GeneCard:OR13K1P, HGNC:HGNC:14721, NCBI Gene:402424, RefSeq DNA:NG_004632, RefSeq DNA:NT_011786 No chrX 130696704 130697787 131562730 131563813 +PA134875853 403228 HGNC:31240 ENSG00000226653 olfactory receptor, family 13, subfamily Z, member 1 pseudogene OR13Z1P Yes No Ensembl:ENSG00000226653, GeneCard:OR13Z1P, HGNC:HGNC:31240, NCBI Gene:403228, RefSeq DNA:NG_004405, RefSeq DNA:NT_167185 No chr1 146890733 146891625 147419006 147419898 +PA134910309 403229 HGNC:31241 ENSG00000272443 olfactory receptor, family 13, subfamily Z, member 2 pseudogene OR13Z2P Yes No Ensembl:ENSG00000272443, GeneCard:OR13Z2P, HGNC:HGNC:31241, NCBI Gene:403229, RefSeq DNA:NG_004406, RefSeq DNA:NT_167185 No chr1 146917312 146917867 147445479 147446234 +PA134863518 403230 HGNC:31242 ENSG00000272480 olfactory receptor, family 13, subfamily Z, member 3 pseudogene OR13Z3P Yes No Ensembl:ENSG00000272480, GeneCard:OR13Z3P, HGNC:HGNC:31242, NCBI Gene:403230, RefSeq DNA:NG_005818, RefSeq DNA:NT_167185 No chr1 146953988 146954378 147482238 147482628 +PA162398441 284532 HGNC:15022 ENSG00000196772 olfactory receptor family 14 subfamily A member 16 OR14A16 olfactory receptor, family 14, subfamily A, member 16 OR5AT1 Yes No Ensembl:ENSG00000196772, GeneCard:OR14A16, HGNC:HGNC:15022, ModBase:Q8NHC5, NCBI Gene:284532, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001966, RefSeq RNA:NM_001001966, UniProtKB:Q8NHC5 No chr1 247978102 247979031 247814800 247815729 +PA32477 388761 HGNC:15024 ENSG00000241128 olfactory receptor family 14 subfamily A member 2 OR14A2 olfactory receptor, family 14, subfamily A, member 2 OR5AX1, OR5AX1P Yes No Ensembl:ENSG00000241128, GenAtlas:OR5AX1, GeneCard:OR14A2, HGNC:HGNC:15024, NCBI Gene:388761, RefSeq DNA:NG_002409, RefSeq DNA:NT_004836 No chr1 247886201 247887545 247722899 247724243 +PA162398442 127066 HGNC:15026 ENSG00000177174 olfactory receptor family 14 subfamily C member 36 OR14C36 olfactory receptor, family 14, subfamily C, member 36 OR5BF1 Yes No Ensembl:ENSG00000177174, GeneCard:OR14C36, HGNC:HGNC:15026, ModBase:Q8NHC7, NCBI Gene:127066, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001918, RefSeq RNA:NM_001001918, UniProtKB:Q8NHC7 No chr1 248512077 248513015 248348775 248349713 +PA162398443 401994 HGNC:19575 ENSG00000189181 olfactory receptor family 14 subfamily I member 1 OR14I1 olfactory receptor, family 14, subfamily I, member 1 OR5BU1, OR5BU1P Yes No Ensembl:ENSG00000189181, GeneCard:OR14I1, HGNC:HGNC:19575, ModBase:A6ND48, NCBI Gene:401994, RefSeq DNA:NT_004836, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004734, RefSeq RNA:NM_001004734, UniProtKB:A6ND48 No chr1 248844580 248862258 248681296 248685566 +PA162398444 442191 HGNC:13971 ENSG00000112459, ENSG00000204695, ENSG00000225291 olfactory receptor family 14 subfamily J member 1 OR14J1 olfactory receptor, family 14, subfamily J, member 1 OR5U1, hs6M1-28 Yes No Ensembl:ENSG00000112459, Ensembl:ENSG00000204695, Ensembl:ENSG00000225291, GeneCard:OR14J1, HGNC:HGNC:13971, ModBase:Q9UGF5, NCBI Gene:442191, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167249, RefSeq Protein:NP_112208, RefSeq RNA:NM_030946, UniProtKB:Q9UGF5 No chr6 29274467 29275432 29306690 29307655 +PA32478 343170 HGNC:15025 ENSG00000153230 olfactory receptor family 14 subfamily K member 1 OR14K1 olfactory receptor, family 14, subfamily K, member 1 OR5AY1 Yes No Ensembl:ENSG00000153230, GenAtlas:OR5AY1, GeneCard:OR14K1, HGNC:HGNC:15025, ModBase:Q8NGZ2, NCBI Gene:343170, RefSeq DNA:NT_004836, RefSeq Protein:NP_001004732, RefSeq RNA:NM_001004732, UniProtKB:Q8NGZ2 No chr1 247901917 247902861 247738615 247739559 +PA32475 127617 HGNC:15023 ENSG00000198452 olfactory receptor family 14 subfamily L member 1 OR14L1 olfactory receptor, family 14, subfamily L, member 1 pseudogene OR14L1P, OR5AV1, OR5AV1P Yes No Ensembl:ENSG00000198452, GenAtlas:OR5AV1P, GeneCard:OR14L1P, HGNC:HGNC:15023, ModBase:Q8NHC6, NCBI Gene:127617, RefSeq DNA:NG_004286, RefSeq DNA:NT_004836, UniProtKB:Q8NHC6 No chr1 247782983 247783861 247619681 247620559 +PA32051 8383 HGNC:8179 ENSG00000172146 olfactory receptor family 1 subfamily A member 1 OR1A1 olfactory receptor, family 1, subfamily A, member 1 OR17-7 Yes No Ensembl:ENSG00000172146, GenAtlas:OR1A1, GeneCard:OR1A1, HGNC:HGNC:8179, HumanCyc Gene:HS10453, ModBase:Q9P1Q5, NCBI Gene:8383, RefSeq DNA:NT_010718, RefSeq Protein:NP_055380, RefSeq RNA:NM_014565, UCSC Genome Browser:NM_014565, UniProtKB:Q9P1Q5 No chr17 3118915 3119844 3215621 3216550 +PA32052 26189 HGNC:8180 ENSG00000172150 olfactory receptor family 1 subfamily A member 2 OR1A2 olfactory receptor, family 1, subfamily A, member 2 OR17-6 Yes No Ensembl:ENSG00000172150, GenAtlas:OR1A2, GeneCard:OR1A2, HGNC:HGNC:8180, HumanCyc Gene:HS10455, ModBase:Q9Y585, NCBI Gene:26189, RefSeq DNA:NT_010718, RefSeq Protein:NP_036484, RefSeq RNA:NM_012352, UCSC Genome Browser:NM_012352, UniProtKB:Q9Y585 No chr17 3100813 3101742 3197517 3198448 +PA32053 79312 HGNC:14750 ENSG00000234288 olfactory receptor, family 1, subfamily AA, member 1 pseudogene OR1AA1P Yes No Ensembl:ENSG00000234288, GenAtlas:OR1AA1P, GeneCard:OR1AA1P, HGNC:HGNC:14750, NCBI Gene:79312, RefSeq DNA:NG_002238, RefSeq DNA:NT_011786 No chrX 130558276 130559216 131424302 131425242 +PA32054 81090 HGNC:15390 ENSG00000267450 olfactory receptor, family 1, subfamily AB, member 1 pseudogene OR1AB1P Yes No Ensembl:ENSG00000267450, GenAtlas:OR1AB1P, GeneCard:OR1AB1P, HGNC:HGNC:15390, NCBI Gene:81090, RefSeq DNA:NG_004627, RefSeq DNA:NT_011295 No chr19 16162788 16163526 16051978 16052716 +PA134963237 403231 HGNC:31243 ENSG00000267129 olfactory receptor, family 1, subfamily AC, member 1 pseudogene OR1AC1P Yes No Ensembl:ENSG00000267129, GeneCard:OR1AC1P, HGNC:HGNC:31243, NCBI Gene:403231, RefSeq DNA:NG_005819, RefSeq DNA:NT_010718 No chr17 3280761 3281007 3377467 3377713 +PA32055 347169 HGNC:8181 ENSG00000280094 olfactory receptor family 1 subfamily B member 1 OR1B1 """olfactory receptor family 1 subfamily B member 1 (gene/pseudogene)"", ""olfactory receptor, family 1, subfamily B, member 1""" OR9-B Yes No Ensembl:ENSG00000280094, GenAtlas:OR1B1, GeneCard:OR1B1, HGNC:HGNC:8181, ModBase:Q8NGR6, NCBI Gene:347169, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004450, RefSeq RNA:NM_001004450, UniProtKB:Q8NGR6 No chr9 125390858 125391814 122578405 122657626 +PA32056 26188 HGNC:8182 ENSG00000221888 olfactory receptor family 1 subfamily C member 1 OR1C1 olfactory receptor, family 1, subfamily C, member 1 HSTPCR27, TPCR27 Yes No Ensembl:ENSG00000221888, GenAtlas:OR1C1, GeneCard:OR1C1, HGNC:HGNC:8182, HumanCyc Gene:HS07093, ModBase:Q15619, NCBI Gene:26188, RefSeq DNA:NT_167186, RefSeq Protein:NP_036485, RefSeq RNA:NM_012353, UniProtKB:Q15619 No chr1 247920764 247921708 247757462 247758406 +PA32057 4991 HGNC:8183 ENSG00000184166 olfactory receptor family 1 subfamily D member 2 OR1D2 olfactory receptor, family 1, subfamily D, member 2 OLFR1, OR17-4 Yes No Ensembl:ENSG00000184166, GenAtlas:OR1D2, GeneCard:OR1D2, HGNC:HGNC:8183, ModBase:P34982, NCBI Gene:4991, OMIM:164342, RefSeq DNA:NT_010718, RefSeq Protein:NP_002539, RefSeq RNA:NM_002548, UCSC Genome Browser:NM_002548, UniProtKB:P34982 No chr17 2995352 2996290 3092058 3092996 +PA32058 8384 HGNC:8184 ENSG00000262106 olfactory receptor, family 1, subfamily D, member 3 pseudogene OR1D3P OR11-13, OR11-22, OR17-23 Yes No Ensembl:ENSG00000262106, GenAtlas:OR1D3P, GeneCard:OR1D3P, HGNC:HGNC:8184, NCBI Gene:8384, RefSeq DNA:NG_002298, RefSeq DNA:NT_010718 No chr17 3169106 3169748 3265812 3266454 +PA32059 653166 HGNC:8185 ENSG00000255095 olfactory receptor family 1 subfamily D member 4 OR1D4 """olfactory receptor family 1 subfamily D member 4 (gene/pseudogene)"", ""olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)""" OR17-30 Yes No Ensembl:ENSG00000255095, GenAtlas:OR1D4, GeneCard:OR1D4, HGNC:HGNC:8185, ModBase:P47884, NCBI Gene:653166, RefSeq DNA:NG_005839, RefSeq DNA:NT_010718, RefSeq Protein:NP_003543, RefSeq RNA:NM_003552, RefSeq RNA:NR_033795, UCSC Genome Browser:NM_003552 No chr17 3143970 3144559 3240676 3241265 +PA32060 8386 HGNC:8186 ENSG00000262628 olfactory receptor family 1 subfamily D member 5 OR1D5 olfactory receptor, family 1, subfamily D, member 5 C17orf2, OR17-31 Yes No Ensembl:ENSG00000262628, GenAtlas:OR1D5, GeneCard:OR1D5, HGNC:HGNC:8186, ModBase:P58170, NCBI Gene:8386, RefSeq DNA:NT_010718, RefSeq Protein:NP_055381, RefSeq RNA:NM_014566, UCSC Genome Browser:NM_014566, UniProtKB:P58170 No chr17 2965963 2966901 3062669 3063607 +PA32062 8387 HGNC:8189 ENSG00000180016 olfactory receptor family 1 subfamily E member 1 OR1E1 olfactory receptor, family 1, subfamily E, member 1 HGM071, OR13-66, OR17-2, OR17-32, OR1E5, OR1E6, OR1E9P Yes No Ensembl:ENSG00000180016, GenAtlas:OR1E1, GeneCard:OR1E1, HGNC:HGNC:8189, HumanCyc Gene:HS11441, ModBase:P30953, NCBI Gene:8387, RefSeq DNA:NT_010718, RefSeq Protein:NP_003544, RefSeq RNA:NM_003553, UCSC Genome Browser:NM_003553, UniProtKB:P30953 No chr17 3300760 3301704 3397466 3398410 +PA32063 8388 HGNC:8190 ENSG00000127780 olfactory receptor family 1 subfamily E member 2 OR1E2 olfactory receptor, family 1, subfamily E, member 2 OR17-135, OR17-93, OR1E4 Yes No Ensembl:ENSG00000127780, GenAtlas:OR1E2, GeneCard:OR1E2, HGNC:HGNC:8190, HumanCyc Gene:HS05126, ModBase:P47887, NCBI Gene:8388, RefSeq DNA:NT_010718, RefSeq Protein:NP_003545, RefSeq RNA:NM_003554, UCSC Genome Browser:NM_003554, UniProtKB:P47887, UniProtKB:Q6IFM7 No chr17 3336164 3337135 3432870 3433841 +PA32064 8389 HGNC:8191 ENSG00000142163 olfactory receptor family 1 subfamily E member 3 (gene/pseudogene) OR1E3 olfactory receptor, family 1, subfamily E, member 3 (gene/pseudogene) OR17-210, OR1E3P Yes No Ensembl:ENSG00000142163, GenAtlas:OR1E3P, GeneCard:OR1E3, HGNC:HGNC:8191, NCBI Gene:8389, RefSeq DNA:NG_002151, RefSeq DNA:NT_010718 No chr17 3019721 3020668 3116427 3117374 +PA32070 4992 HGNC:8194 ENSG00000168124 olfactory receptor family 1 subfamily F member 1 OR1F1 olfactory receptor, family 1, subfamily F, member 1 OLFMF, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OR1F10, OR1F13P, OR1F4, OR1F5, OR1F6, OR1F7, OR1F8, OR1F9, OR3-145, Olfmf Yes No Ensembl:ENSG00000168124, GenAtlas:OR1F1, GeneCard:OR1F1, HGNC:HGNC:8194, HumanCyc Gene:HS09696, ModBase:O43749, NCBI Gene:4992, OMIM:603232, RefSeq DNA:NT_010393, RefSeq Protein:NP_036492, RefSeq RNA:NM_012360, UCSC Genome Browser:NM_012360, UniProtKB:O43749 No chr16 3254247 3255185 3188195 3206559 +PA32075 26184 HGNC:8196 ENSG00000203581 olfactory receptor, family 1, subfamily F, member 2 OR1F2P OLFMF2 Yes No Ensembl:ENSG00000203581, GenAtlas:OR1F2, GeneCard:OR1F2P, HGNC:HGNC:8196, ModBase:Q96R84, NCBI Gene:26184, RefSeq DNA:NT_010393, RefSeq DNA:NT_037887, RefSeq RNA:NR_002169, UniProtKB:Q96R84 No chr16 3265562 3266546 3215562 3216546 +PA32076 8390 HGNC:8204 ENSG00000183024 olfactory receptor family 1 subfamily G member 1 OR1G1 olfactory receptor, family 1, subfamily G, member 1 OR17-209, OR1G2 Yes No Ensembl:ENSG00000183024, GenAtlas:OR1G1, GeneCard:OR1G1, HGNC:HGNC:8204, ModBase:P47890, NCBI Gene:8390, RefSeq DNA:NT_010718, RefSeq Protein:NP_003546, RefSeq RNA:NM_003555, UCSC Genome Browser:NM_003555, UniProtKB:P47890 No chr17 3029904 3030845 3126610 3127551 +PA32077 26742 HGNC:8206 ENSG00000228914 olfactory receptor, family 1, subfamily H, member 1 pseudogene OR1H1P OST26 Yes No Ensembl:ENSG00000228914, GenAtlas:OR1H1P, GeneCard:OR1H1P, HGNC:HGNC:8206, NCBI Gene:26742, RefSeq DNA:NG_004138, RefSeq DNA:NT_008470 No chr9 125370144 125371077 122607865 122608798 +PA32078 126370 HGNC:8207 ENSG00000094661 olfactory receptor family 1 subfamily I member 1 OR1I1 olfactory receptor, family 1, subfamily I, member 1 OR19-20, OR1I1P, OR1I1Q Yes No Ensembl:ENSG00000094661, GenAtlas:OR1I1, GeneCard:OR1I1, HGNC:HGNC:8207, ModBase:O60431, NCBI Gene:126370, RefSeq DNA:NT_011295, RefSeq Protein:NP_001004713, RefSeq RNA:NM_001004713, UniProtKB:O60431 No chr19 15197877 15198944 15087066 15088133 +PA32079 347168 HGNC:8208 ENSG00000136834 olfactory receptor family 1 subfamily J member 1 OR1J1 olfactory receptor, family 1, subfamily J, member 1 hg32 Yes No Ensembl:ENSG00000136834, GenAtlas:OR1J1, GeneCard:OR1J1, HGNC:HGNC:8208, ModBase:Q8NGS3, NCBI Gene:347168, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004451, RefSeq RNA:NM_001004451, UniProtKB:Q8NGS3 No chr9 125239237 125240205 122476958 122477926 +PA32080 26740 HGNC:8209 ENSG00000197233 olfactory receptor family 1 subfamily J member 2 OR1J2 olfactory receptor, family 1, subfamily J, member 2 OR1J3, OR1J5, OST044 Yes No Ensembl:ENSG00000197233, GenAtlas:OR1J2, GeneCard:OR1J2, HGNC:HGNC:8209, ModBase:Q8NGS2, NCBI Gene:26740, RefSeq DNA:NT_008470, RefSeq Protein:NP_473448, RefSeq RNA:NM_054107, UniProtKB:Q8NGS2 No chr9 125231369 125276376 122403407 122514097 +PA32081 26219 HGNC:8211 ENSG00000239590 olfactory receptor family 1 subfamily J member 4 OR1J4 olfactory receptor, family 1, subfamily J, member 4 HSHTPCRX01, HTPCRX01 Yes No Ensembl:ENSG00000239590, GenAtlas:OR1J4, GeneCard:OR1J4, HGNC:HGNC:8211, ModBase:Q8NGS1, NCBI Gene:26219, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004452, RefSeq RNA:NM_001004452, UniProtKB:A3KME5, UniProtKB:Q8NGS1 No chr9 125281420 125282361 122519141 122520082 +PA32083 392392 HGNC:8212 ENSG00000165204 olfactory receptor family 1 subfamily K member 1 OR1K1 olfactory receptor, family 1, subfamily K, member 1 MNAB, hg99 Yes No Ensembl:ENSG00000165204, GenAtlas:OR1K1, GeneCard:OR1K1, HGNC:HGNC:8212, ModBase:Q8NGR3, NCBI Gene:392392, RefSeq DNA:NT_008470, RefSeq Protein:NP_543135, RefSeq RNA:NM_080859, UCSC Genome Browser:NM_018835, UniProtKB:Q8NGR3 No chr9 125562402 125563352 122800123 122801073 +PA32084 26737 HGNC:8213 ENSG00000173679 olfactory receptor family 1 subfamily L member 1 OR1L1 olfactory receptor, family 1, subfamily L, member 1 OR1L2, OR9-C Yes No Ensembl:ENSG00000173679, GenAtlas:OR1L1, GeneCard:OR1L1, HGNC:HGNC:8213, ModBase:Q8NH94, NCBI Gene:26737, RefSeq DNA:NT_008470, RefSeq Protein:NP_001005236, RefSeq RNA:NM_001005236, UniProtKB:Q8NH94 No chr9 125423995 125424927 122661716 122662648 +PA32085 26735 HGNC:8215 ENSG00000171481 olfactory receptor family 1 subfamily L member 3 OR1L3 olfactory receptor, family 1, subfamily L, member 3 OR9-D Yes No Ensembl:ENSG00000171481, GenAtlas:OR1L3, GeneCard:OR1L3, HGNC:HGNC:8215, ModBase:Q8NH93, NCBI Gene:26735, RefSeq DNA:NT_008470, RefSeq Protein:NP_001005234, RefSeq RNA:NM_001005234, UniProtKB:Q8NH93 No chr9 125437409 125438383 122675130 122676104 +PA32086 254973 HGNC:8216 ENSG00000136939 olfactory receptor family 1 subfamily L member 4 OR1L4 olfactory receptor, family 1, subfamily L, member 4 OR1L5, OR9-E Yes No Ensembl:ENSG00000136939, GenAtlas:OR1L4, GeneCard:OR1L4, HGNC:HGNC:8216, ModBase:Q8NGR5, NCBI Gene:254973, RefSeq DNA:NT_008470, RefSeq Protein:NP_001005235, RefSeq RNA:NM_001005235, UniProtKB:Q8NGR5 No chr9 125486269 125487204 122723990 122724925 +PA32087 392390 HGNC:8218 ENSG00000171459 olfactory receptor family 1 subfamily L member 6 OR1L6 olfactory receptor, family 1, subfamily L, member 6 OR1L7 Yes No Ensembl:ENSG00000171459, GenAtlas:OR1L6, GeneCard:OR1L6, HGNC:HGNC:8218, ModBase:Q8NGR2, NCBI Gene:392390, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004453, RefSeq RNA:NM_001004453, UniProtKB:Q8NGR2 No chr9 125512127 125513062 122749848 122750783 +PA32088 138881 HGNC:15110 ENSG00000171496 olfactory receptor family 1 subfamily L member 8 OR1L8 olfactory receptor, family 1, subfamily L, member 8 Yes No Ensembl:ENSG00000171496, GenAtlas:OR1L8, GeneCard:OR1L8, HGNC:HGNC:15110, ModBase:Q8NGR8, NCBI Gene:138881, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004454, RefSeq RNA:NM_001004454, UniProtKB:Q8NGR8 No chr9 125329827 125330756 122546009 122576960 +PA32089 125963 HGNC:8220 ENSG00000170929 olfactory receptor family 1 subfamily M member 1 OR1M1 olfactory receptor, family 1, subfamily M, member 1 OR19-6 Yes No Ensembl:ENSG00000170929, GenAtlas:OR1M1, GeneCard:OR1M1, HGNC:HGNC:8220, ModBase:Q8NGA1, NCBI Gene:125963, RefSeq DNA:NT_011295, RefSeq Protein:NP_001004456, RefSeq RNA:NM_001004456, UniProtKB:Q8NGA1 No chr19 9203921 9204862 9093245 9094186 +PA134971237 403232 HGNC:31244 ENSG00000267154 olfactory receptor, family 1, subfamily M, member 4 pseudogene OR1M4P Yes No Ensembl:ENSG00000267154, GeneCard:OR1M4P, HGNC:HGNC:31244, NCBI Gene:403232, RefSeq DNA:NG_004407, RefSeq DNA:NT_011295 No chr19 9193612 9194074 9082936 9083398 +PA32090 138883 HGNC:8221 ENSG00000171505 olfactory receptor family 1 subfamily N member 1 OR1N1 olfactory receptor, family 1, subfamily N, member 1 OR1-26, OR1N3 Yes No Ensembl:ENSG00000171505, GenAtlas:OR1N1, GeneCard:OR1N1, HGNC:HGNC:8221, ModBase:Q8NGS0, NCBI Gene:138883, RefSeq DNA:NT_008470, RefSeq Protein:NP_036495, RefSeq RNA:NM_012363, UniProtKB:Q8NGS0 No chr9 125288637 125289572 122526358 122527293 +PA32091 138882 HGNC:15111 ENSG00000171501 olfactory receptor family 1 subfamily N member 2 OR1N2 olfactory receptor, family 1, subfamily N, member 2 Yes No Ensembl:ENSG00000171501, GenAtlas:OR1N2, GeneCard:OR1N2, HGNC:HGNC:15111, ModBase:Q8NGR9, NCBI Gene:138882, RefSeq DNA:NT_008470, RefSeq Protein:NP_001004457, RefSeq RNA:NM_001004457, UniProtKB:Q8NGR9 No chr9 125315449 125316441 122553170 122554162 +PA32093 8391 HGNC:8222 ENSG00000262085 olfactory receptor family 1 subfamily P member 1 (gene/pseudogene) OR1P1 olfactory receptor, family 1, subfamily P, member 1 (gene/pseudogene) OR17-208, OR1P1P Yes No Ensembl:ENSG00000262085, GenAtlas:OR1P1P, GeneCard:OR1P1, HGNC:HGNC:8222, NCBI Gene:8391, RefSeq DNA:NG_002153, RefSeq DNA:NT_010718 No chr17 3057184 3058176 3153890 3154882 +PA32094 158131 HGNC:8223 ENSG00000165202 olfactory receptor family 1 subfamily Q member 1 OR1Q1 olfactory receptor, family 1, subfamily Q, member 1 HSTPCR106, OR1Q2, OR1Q3, OR9-A, OST226, OST226OR9-A, TPCR106 Yes No Ensembl:ENSG00000165202, GenAtlas:OR1Q1, GeneCard:OR1Q1, HGNC:HGNC:8223, ModBase:Q15612, NCBI Gene:158131, RefSeq DNA:NT_008470, RefSeq Protein:NP_036496, RefSeq RNA:NM_012364, UniProtKB:Q15612 No chr9 125377017 125377961 122614738 122615682 +PA32095 9596 HGNC:8226 ENSG00000180042 olfactory receptor, family 1, subfamily R, member 1 pseudogene OR1R1P OR17-1 Yes No Ensembl:ENSG00000180042, GenAtlas:OR1R1P, GeneCard:OR1R1P, HGNC:HGNC:8226, NCBI Gene:9596, RefSeq DNA:NG_002302, RefSeq DNA:NT_010718 No chr17 3289140 3290168 3385846 3386874 +PA32098 219959 HGNC:8227 ENSG00000280204 olfactory receptor family 1 subfamily S member 1 OR1S1 """olfactory receptor family 1 subfamily S member 1 (gene/pseudogene)"", ""olfactory receptor, family 1, subfamily S, member 1""" OST034 Yes No Ensembl:ENSG00000280204, GenAtlas:OR1S1, GeneCard:OR1S1, HGNC:HGNC:8227, ModBase:Q8NH92, NCBI Gene:219959, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004458, RefSeq RNA:NM_001004458, UniProtKB:Q8NH92 No chr11 57982217 57983194 58214745 58215722 +PA32099 219958 HGNC:15141 ENSG00000197887 olfactory receptor family 1 subfamily S member 2 OR1S2 olfactory receptor, family 1, subfamily S, member 2 Yes No Ensembl:ENSG00000197887, GenAtlas:OR1S2, GeneCard:OR1S2, HGNC:HGNC:15141, ModBase:Q8NGQ3, NCBI Gene:219958, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004459, RefSeq RNA:NM_001004459, UniProtKB:Q8NGQ3 No chr11 57970676 57971653 58203204 58204181 +PA32100 402236 HGNC:15062 ENSG00000272494 olfactory receptor, family 1, subfamily X, member 1 pseudogene OR1X1P Yes No Ensembl:ENSG00000272494, GenAtlas:OR1X1P, GeneCard:OR1X1P, HGNC:HGNC:15062, NCBI Gene:402236, RefSeq DNA:NG_004630, RefSeq DNA:NT_023133 No chr5 175433148 175434392 176006145 176007389 +PA134950096 402240 HGNC:31245 ENSG00000214351 olfactory receptor, family 1, subfamily X, member 5 pseudogene OR1X5P Yes No Ensembl:ENSG00000214351, GeneCard:OR1X5P, HGNC:HGNC:31245, NCBI Gene:402240, RefSeq DNA:NG_004631, RefSeq DNA:NT_023133 No chr5 177263413 177264664 177836412 177837663 +PA32101 346528 HGNC:8229 ENSG00000212807, ENSG00000221970 olfactory receptor family 2 subfamily A member 1 OR2A1 olfactory receptor, family 2, subfamily A, member 1 Yes No Ensembl:ENSG00000212807, Ensembl:ENSG00000221970, GenAtlas:OR2A1, GeneCard:OR2A1, HGNC:HGNC:8229, NCBI Gene:346528, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001005287, RefSeq RNA:NM_001005287 No chr7 144009039 144017558 144318125 144319057 +PA32104 346525 HGNC:15082 ENSG00000221858 olfactory receptor family 2 subfamily A member 12 OR2A12 olfactory receptor, family 2, subfamily A, member 12 OR2A12P Yes No Ensembl:ENSG00000221858, GeneCard:OR2A12, HGNC:HGNC:15082, ModBase:Q8NGT7, NCBI Gene:346525, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001004135, RefSeq RNA:NM_001004135, UniProtKB:A4D2G4, UniProtKB:Q8NGT7 No chr7 143792201 143793133 144095108 144096040 +PA32105 392140 HGNC:15083 ENSG00000273234 olfactory receptor, family 2, subfamily A, member 13 pseudogene OR2A13P Yes No Ensembl:ENSG00000273234, GenAtlas:OR2A13P, GeneCard:OR2A13P, HGNC:HGNC:15083, NCBI Gene:392140, RefSeq DNA:NG_004375, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 143839028 143840234 144141935 144143141 +PA32106 135941 HGNC:15084 ENSG00000221938 olfactory receptor family 2 subfamily A member 14 OR2A14 olfactory receptor, family 2, subfamily A, member 14 OR2A14P, OR2A6, OST182 Yes No Ensembl:ENSG00000221938, GenAtlas:OR2A14, GeneCard:OR2A14, HGNC:HGNC:15084, ModBase:Q96R47, NCBI Gene:135941, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001001659, RefSeq RNA:NM_001001659, UniProtKB:Q96R47 No chr7 143826206 143827138 144129113 144130045 +PA32107 135942 HGNC:15085 ENSG00000239981 olfactory receptor, family 2, subfamily A, member 15 pseudogene OR2A15P Yes No Ensembl:ENSG00000239981, GenAtlas:OR2A15P, GeneCard:OR2A15P, HGNC:HGNC:15085, NCBI Gene:135942, RefSeq DNA:NG_004290, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 143815557 143816453 144118464 144119360 +PA32115 442361 HGNC:8230 ENSG00000221989 olfactory receptor family 2 subfamily A member 2 OR2A2 olfactory receptor, family 2, subfamily A, member 2 OR2A17P, OR2A2P, OST008 Yes No Ensembl:ENSG00000221989, GenAtlas:OR2A2, GeneCard:OR2A2, HGNC:HGNC:8230, ModBase:Q6IF42, NCBI Gene:442361, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001005480, RefSeq RNA:NM_001005480 No chr7 143806676 143807632 144109583 144110539 +PA32112 401428 HGNC:15413 ENSG00000170356 olfactory receptor, family 2, subfamily A, member 20 pseudogene OR2A20P Yes No Ensembl:ENSG00000170356, GenAtlas:OR2A20P, GeneCard:OR2A20P, HGNC:HGNC:15413, NCBI Gene:401428, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq RNA:NR_002158 No chr7 143947767 143948696 144250674 144251603 +PA134892120 392138 HGNC:19562 ENSG00000221933 olfactory receptor family 2 subfamily A member 25 OR2A25 olfactory receptor, family 2, subfamily A, member 25 OR2A25P, OR2A27 Yes No Ensembl:ENSG00000221933, GeneCard:OR2A25, HGNC:HGNC:19562, ModBase:A4D2G3, NCBI Gene:392138, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001004488, RefSeq RNA:NM_001004488, UniProtKB:A4D2G3 No chr7 143771313 143772245 144074220 144075152 +PA32116 202861 HGNC:8231 ENSG00000183122 olfactory receptor, family 2, subfamily A, member 3 pseudogene OR2A3P Yes No Ensembl:ENSG00000183122, GenAtlas:OR2A3P, GeneCard:OR2A3P, HGNC:HGNC:8231, NCBI Gene:202861, RefSeq DNA:NG_004292, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 143854119 143855452 144157026 144158359 +PA32117 79541 HGNC:14729 ENSG00000180658 olfactory receptor family 2 subfamily A member 4 OR2A4 olfactory receptor, family 2, subfamily A, member 4 OR2A10 Yes No Ensembl:ENSG00000180658, GenAtlas:OR2A4, GeneCard:OR2A4, HGNC:HGNC:14729, HumanCyc Gene:HS11514, ModBase:O95047, NCBI Gene:79541, RefSeq DNA:NT_025741, RefSeq DNA:NT_079596, RefSeq Protein:NP_112170, RefSeq RNA:NM_030908, UCSC Genome Browser:NM_030908, UniProtKB:O95047 No chr6 132021609 132022541 131699644 131701401 +PA134924592 403234 HGNC:31246 ENSG00000239967 olfactory receptor, family 2, subfamily A, member 41 pseudogene OR2A41P Yes No Ensembl:ENSG00000239967, GeneCard:OR2A41P, HGNC:HGNC:31246, NCBI Gene:403234, RefSeq DNA:NG_004408, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 143774486 143774947 144077393 144077854 +PA134971566 402317 HGNC:31230 ENSG00000212807, ENSG00000221970 olfactory receptor family 2 subfamily A member 42 OR2A42 olfactory receptor, family 2, subfamily A, member 42 Yes No Ensembl:ENSG00000212807, Ensembl:ENSG00000221970, GeneCard:OR2A42, HGNC:HGNC:31230, ModBase:Q8NGT9, NCBI Gene:402317, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001001802, RefSeq RNA:NM_001001802, UniProtKB:Q8NGT9 No chr7 143928876 143936126 144231911 144232843 +PA32118 393046 HGNC:8232 ENSG00000221836 olfactory receptor family 2 subfamily A member 5 OR2A5 olfactory receptor, family 2, subfamily A, member 5 OR2A26, OR2A8, OR7-138, OR7-141 Yes No Ensembl:ENSG00000221836, GenAtlas:OR2A5, GeneCard:OR2A5, HGNC:HGNC:8232, ModBase:Q96R48, NCBI Gene:393046, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_036497, RefSeq RNA:NM_012365, UniProtKB:Q96R48 No chr7 143747495 143748430 144050402 144051337 +PA32120 401427 HGNC:8234 ENSG00000243896 olfactory receptor family 2 subfamily A member 7 OR2A7 olfactory receptor, family 2, subfamily A, member 7 HSDJ0798C17 Yes No Ensembl:ENSG00000243896, GenAtlas:OR2A7, GeneCard:OR2A7, HGNC:HGNC:8234, ModBase:Q96R45, NCBI Gene:401427, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001005328, RefSeq RNA:NM_001005328, UniProtKB:Q96R45 No chr7 143955789 143956721 144258696 144259628 +PA32121 441295 HGNC:8236 ENSG00000228960 olfactory receptor, family 2, subfamily A, member 9 pseudogene OR2A9P HSDJ0798C17 Yes No Ensembl:ENSG00000228960, GenAtlas:OR2A9P, GeneCard:OR2A9P, HGNC:HGNC:8236, NCBI Gene:441295, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq RNA:NR_002157 No chr7 143996614 143997598 144299521 144300505 +PA32122 79313 HGNC:14749 ENSG00000223677 olfactory receptor, family 2, subfamily AD, member 1 pseudogene OR2AD1P OR2AD1, hs6M1-8P Yes No Ensembl:ENSG00000223677, GenAtlas:OR2AD1P, GeneCard:OR2AD1P, HGNC:HGNC:14749, NCBI Gene:79313, RefSeq DNA:NG_002239, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 28994457 28995384 29026680 29027607 +PA32123 81392 HGNC:15087 ENSG00000244623 olfactory receptor family 2 subfamily AE member 1 OR2AE1 olfactory receptor, family 2, subfamily AE, member 1 OR2AE2 Yes No Ensembl:ENSG00000244623, GenAtlas:OR2AE1, GeneCard:OR2AE1, HGNC:HGNC:15087, ModBase:Q8NHA4, NCBI Gene:81392, RefSeq DNA:NG_000004, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001005276, RefSeq RNA:NM_001005276, UniProtKB:Q8NHA4 No chr7 99473685 99474656 99876062 99877033 +PA32124 79331 HGNC:14719 ENSG00000235730 olfactory receptor, family 2, subfamily AF, member 1 pseudogene OR2AF1P Yes No Ensembl:ENSG00000235730, GenAtlas:OR2AF1P, GeneCard:OR2AF1P, HGNC:HGNC:14719, NCBI Gene:79331, RefSeq DNA:NG_002257, RefSeq DNA:NT_011786 No chrX 130753049 130753938 131619047 131619936 +PA32126 144125 HGNC:15142 ENSG00000279486 olfactory receptor family 2 subfamily AG member 1 OR2AG1 """olfactory receptor family 2 subfamily AG member 1 (gene/pseudogene)"", ""olfactory receptor, family 2, subfamily AG, member 1""" OR2AG3 Yes No Ensembl:ENSG00000279486, GenAtlas:OR2AG1, GeneCard:OR2AG1, HGNC:HGNC:15142, ModBase:Q9H205, NCBI Gene:144125, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004489, RefSeq RNA:NM_001004489, UniProtKB:Q9H205 No chr11 6806248 6807245 6785017 6786014 +PA32127 338755 HGNC:15143 ENSG00000188124 olfactory receptor family 2 subfamily AG member 2 OR2AG2 olfactory receptor, family 2, subfamily AG, member 2 OR2AG2P Yes No Ensembl:ENSG00000188124, GenAtlas:OR2AG2, GeneCard:OR2AG2, HGNC:HGNC:15143, ModBase:A6NM03, NCBI Gene:338755, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004490, RefSeq RNA:NM_001004490, UniProtKB:A6NM03 No chr11 6789238 6790188 6768007 6768957 +PA32128 81336 HGNC:15144 ENSG00000232511 olfactory receptor, family 2, subfamily AH, member 1 pseudogene OR2AH1P Yes No Ensembl:ENSG00000232511, GenAtlas:OR2AH1P, GeneCard:OR2AH1P, HGNC:HGNC:15144, NCBI Gene:81336, RefSeq DNA:NG_004244, RefSeq DNA:NT_167190 No chr11 56436496 56437420 56669020 56669944 +PA32129 134082 HGNC:15063 ENSG00000236791 olfactory receptor, family 2, subfamily AI, member 1 pseudogene OR2AI1P Yes No Ensembl:ENSG00000236791, GenAtlas:OR2AI1P, GeneCard:OR2AI1P, HGNC:HGNC:15063, NCBI Gene:134082, RefSeq DNA:NG_004289, RefSeq DNA:NT_023133 No chr5 180119835 180120763 180692835 180693763 +PA32130 127608 HGNC:15001 ENSG00000177275 olfactory receptor family 2 subfamily AJ member 1 OR2AJ1 olfactory receptor, family 2, subfamily AJ, member 1 OR2AJ1P, OR2AJ1Q Yes No Ensembl:ENSG00000177275, GenAtlas:OR2AJ1, GeneCard:OR2AJ1, HGNC:HGNC:15001, ModBase:Q8NGZ0, NCBI Gene:127608, RefSeq DNA:NG_004652, RefSeq DNA:NT_167186 No chr1 248097179 248098121 247933877 247934819 +PA134921949 391191 HGNC:19569 ENSG00000187080 olfactory receptor family 2 subfamily AK member 2 OR2AK2 olfactory receptor, family 2, subfamily AK, member 2 OR2AK1P Yes No Ensembl:ENSG00000187080, GeneCard:OR2AK2, HGNC:HGNC:19569, ModBase:Q8NG84, NCBI Gene:391191, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004491, RefSeq RNA:NM_001004491, UniProtKB:Q8NG84 No chr1 248128634 248129641 247965332 247966339 +PA32132 79547 HGNC:14712 ENSG00000254767 olfactory receptor, family 2, subfamily AL, member 1 pseudogene OR2AL1P Yes No Ensembl:ENSG00000254767, GenAtlas:OR2AL1P, GeneCard:OR2AL1P, HGNC:HGNC:14712, NCBI Gene:79547, RefSeq DNA:NG_002273, RefSeq DNA:NT_033899 No chr11 105064827 105065763 105194100 105195036 +PA32133 81366 HGNC:15113 ENSG00000236110 olfactory receptor, family 2, subfamily AM, member 1 pseudogene OR2AM1P Yes No Ensembl:ENSG00000236110, GenAtlas:OR2AM1P, GeneCard:OR2AM1P, HGNC:HGNC:15113, NCBI Gene:81366, RefSeq DNA:NG_004255, RefSeq DNA:NT_008413 No chr9 36021709 36022113 36021712 36022116 +PA134968224 403235 HGNC:31247 ENSG00000240621 olfactory receptor, family 2, subfamily AO, member 1 pseudogene OR2AO1P Yes No Ensembl:ENSG00000240621, GeneCard:OR2AO1P, HGNC:HGNC:31247, NCBI Gene:403235, RefSeq DNA:NG_004409, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 143873834 143874610 144176741 144177517 +PA32135 121129 HGNC:15335 ENSG00000179615 olfactory receptor family 2 subfamily AP member 1 OR2AP1 olfactory receptor, family 2, subfamily AP, member 1 OR2AP1P Yes No Ensembl:ENSG00000179615, GenAtlas:OR2AP1, GeneCard:OR2AP1, HGNC:HGNC:15335, ModBase:Q8NGE2, NCBI Gene:121129, RefSeq DNA:NG_004283, RefSeq DNA:NT_029419 No chr12 55968199 55969128 55574415 55575344 +PA32136 81474 HGNC:15003 ENSG00000229724 olfactory receptor, family 2, subfamily AQ, member 1 pseudogene OR2AQ1P Yes No Ensembl:ENSG00000229724, GenAtlas:OR2AQ1P, GeneCard:OR2AQ1P, HGNC:HGNC:15003, NCBI Gene:81474, RefSeq DNA:NG_004276, RefSeq DNA:NT_004487 No chr1 158765788 158766028 158795998 158796238 +PA32138 81473 HGNC:15004 ENSG00000227102 olfactory receptor, family 2, subfamily AS, member 1 pseudogene OR2AS1P Yes No Ensembl:ENSG00000227102, GenAtlas:OR2AS1P, GeneCard:OR2AS1P, HGNC:HGNC:15004, NCBI Gene:81473, RefSeq DNA:NG_004705, RefSeq DNA:NT_167186 No chr1 248712723 248713204 248549422 248549903 +PA134970584 403236 HGNC:31248 ENSG00000271934 olfactory receptor, family 2, subfamily AS, member 2 pseudogene OR2AS2P Yes No Ensembl:ENSG00000271934, GeneCard:OR2AS2P, HGNC:HGNC:31248, NCBI Gene:403236, RefSeq DNA:NG_004706, RefSeq DNA:NT_167186 No chr1 248661612 248661961 248498311 248498660 +PA32139 390225 HGNC:15145 ENSG00000254475 olfactory receptor, family 2, subfamily AT, member 1 pseudogene OR2AT1P Yes No Ensembl:ENSG00000254475, GenAtlas:OR2AT1P, GeneCard:OR2AT1P, HGNC:HGNC:15145, NCBI Gene:390225, RefSeq DNA:NG_004338, RefSeq DNA:NT_167190 No chr11 74842148 74842917 75131103 75131872 +PA134903990 390224 HGNC:19619 ENSG00000234611 olfactory receptor, family 2, subfamily AT, member 2 pseudogene OR2AT2P Yes No Ensembl:ENSG00000234611, GeneCard:OR2AT2P, HGNC:HGNC:19619, NCBI Gene:390224, RefSeq DNA:NG_004337, RefSeq DNA:NT_167190 No chr11 74782165 74783136 75071120 75072091 +PA134941860 341152 HGNC:19620 ENSG00000171561 olfactory receptor family 2 subfamily AT member 4 OR2AT4 olfactory receptor, family 2, subfamily AT, member 4 Yes No Ensembl:ENSG00000171561, GeneCard:OR2AT4, HGNC:HGNC:19620, ModBase:A6NND4, NCBI Gene:341152, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005285, RefSeq RNA:NM_001005285, UniProtKB:A6NND4 No chr11 74799796 74800758 75088692 75100854 +PA134961529 127623 HGNC:31249 ENSG00000177535 olfactory receptor family 2 subfamily B member 11 OR2B11 olfactory receptor, family 2, subfamily B, member 11 Yes Yes Ensembl:ENSG00000177535, GeneCard:OR2B11, HGNC:HGNC:31249, ModBase:Q5JQS5, NCBI Gene:127623, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004492, RefSeq RNA:NM_001004492, UniProtKB:Q5JQS5 No chr1 247614331 247615284 247451029 247451982 +PA32141 81697 HGNC:13966 ENSG00000168131 olfactory receptor family 2 subfamily B member 2 OR2B2 olfactory receptor, family 2, subfamily B, member 2 OR2B2Q, OR2B9, OR6-1, hs6M1-10 Yes No Ensembl:ENSG00000168131, GenAtlas:OR2B2, GeneCard:OR2B2, HGNC:HGNC:13966, HumanCyc Gene:HS09700, ModBase:Q9GZK3, NCBI Gene:81697, RefSeq DNA:NT_007592, RefSeq Protein:NP_149046, RefSeq RNA:NM_033057, UCSC Genome Browser:NM_033057, UniProtKB:Q9GZK3 No chr6 27878963 27880174 27911185 27912396 +PA32142 442184 HGNC:8238 ENSG00000204703, ENSG00000206524, ENSG00000225736, ENSG00000226832, ENSG00000231319, ENSG00000233054, ENSG00000233180, ENSG00000233687 olfactory receptor family 2 subfamily B member 3 OR2B3 olfactory receptor, family 2, subfamily B, member 3 OR2B3P, OR6-4 Yes No Ensembl:ENSG00000204703, Ensembl:ENSG00000206524, Ensembl:ENSG00000225736, Ensembl:ENSG00000226832, Ensembl:ENSG00000231319, Ensembl:ENSG00000233054, Ensembl:ENSG00000233180, Ensembl:ENSG00000233687, GenAtlas:OR2B3, GeneCard:OR2B3, HGNC:HGNC:8238, ModBase:O76000, NCBI Gene:442184, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001005226, RefSeq RNA:NM_001005226 No chr6 29053985 29055090 29086208 29087313 +PA32143 442190 HGNC:8239 olfactory receptor, family 2, subfamily B, member 4 pseudogene OR2B4P hs6M1-22 Yes No GenAtlas:OR2B4P, GeneCard:OR2B4P, HGNC:HGNC:8239, NCBI Gene:442190, RefSeq DNA:NG_004686, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167249 No chr6 29258373 29259527 29290596 29291750 +PA32144 26212 HGNC:8241 ENSG00000124657 olfactory receptor family 2 subfamily B member 6 OR2B6 olfactory receptor, family 2, subfamily B, member 6 OR2B1, OR2B1P, OR2B5, OR2B6P, OR5-40, OR5-41, OR6-31, dJ408B20.2 Yes No Ensembl:ENSG00000124657, GenAtlas:OR2B6, GeneCard:OR2B6, HGNC:HGNC:8241, HumanCyc Gene:HS04812, ModBase:P58173, NCBI Gene:26212, RefSeq DNA:NT_007592, RefSeq Protein:NP_036499, RefSeq RNA:NM_012367, UniProtKB:P58173 No chr6 27925019 27925960 27957241 27958182 +PA32145 81695 HGNC:13967 ENSG00000187763 olfactory receptor, family 2, subfamily B, member 7 pseudogene OR2B7P hs6M1-31P Yes No Ensembl:ENSG00000187763, GenAtlas:OR2B7P, GeneCard:OR2B7P, HGNC:HGNC:13967, NCBI Gene:81695, RefSeq DNA:NG_004280, RefSeq DNA:NT_007592 No chr6 28014213 28015147 28046435 28047369 +PA32146 65944 HGNC:13968 ENSG00000182477 olfactory receptor family 2 subfamily B member 8 (gene/pseudogene) OR2B8 olfactory receptor, family 2, subfamily B, member 8 pseudogene OR2B8P, hs6M1-29P Yes No Ensembl:ENSG00000182477, GenAtlas:OR2B8P, GeneCard:OR2B8P, HGNC:HGNC:13968, ModBase:P59922, NCBI Gene:65944, RefSeq DNA:NG_003194, RefSeq DNA:NT_007592 No chr6 28020906 28022043 28053128 28054265 +PA134863079 403238 HGNC:31250 ENSG00000272882 olfactory receptor, family 2, subfamily BH, member 1 pseudogene OR2BH1P Yes No Ensembl:ENSG00000272882, GeneCard:OR2BH1P, HGNC:HGNC:31250, NCBI Gene:403238, RefSeq DNA:NG_004410, RefSeq DNA:NT_009237 No chr11 29008182 29009045 28986635 28987498 +PA32147 4993 HGNC:8242 ENSG00000168158 olfactory receptor family 2 subfamily C member 1 OR2C1 olfactory receptor, family 2, subfamily C, member 1 OLFmf3, OR2C2P Yes No Ensembl:ENSG00000168158, GenAtlas:OR2C1, GeneCard:OR2C1, HGNC:HGNC:8242, HumanCyc Gene:HS09705, ModBase:O95371, NCBI Gene:4993, RefSeq DNA:NT_010393, RefSeq Protein:NP_036500, RefSeq RNA:NM_012368, UCSC Genome Browser:NM_012368, UniProtKB:O95371 No chr16 3405889 3406924 3355889 3356924 +PA32149 81472 HGNC:15005 ENSG00000196242 olfactory receptor family 2 subfamily C member 3 OR2C3 olfactory receptor, family 2, subfamily C, member 3 OR2C4, OR2C5P, OST742 Yes No Ensembl:ENSG00000196242, GenAtlas:OR2C3, GeneCard:OR2C3, HGNC:HGNC:15005, NCBI Gene:81472, RefSeq DNA:NT_167186, RefSeq Protein:NP_932340, RefSeq RNA:NM_198074, UniProtKB:Q8N628 No chr1 247693434 247697141 247530132 247533839 +PA32152 120776 HGNC:8244 ENSG00000166368 olfactory receptor family 2 subfamily D member 2 OR2D2 olfactory receptor, family 2, subfamily D, member 2 OR11-610, OR2D1, hg27 Yes No Ensembl:ENSG00000166368, GenAtlas:OR2D2, GeneCard:OR2D2, HGNC:HGNC:8244, ModBase:Q9H210, NCBI Gene:120776, OMIM:608494, RefSeq DNA:NT_009237, RefSeq Protein:NP_003691, RefSeq RNA:NM_003700, UniProtKB:Q9H210 No chr11 6912805 6913731 6891574 6892500 +PA32153 120775 HGNC:15146 ENSG00000178358 olfactory receptor family 2 subfamily D member 3 OR2D3 olfactory receptor, family 2, subfamily D, member 3 Yes No Ensembl:ENSG00000178358, GenAtlas:OR2D3, GeneCard:OR2D3, HGNC:HGNC:15146, ModBase:Q8NGH3, NCBI Gene:120775, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004684, RefSeq RNA:NM_001004684, UniProtKB:Q8NGH3 No chr11 6942233 6943225 6921002 6921994 +PA32154 26719 HGNC:15507 ENSG00000219262 olfactory receptor, family 2, subfamily E, member 1 pseudogene OR2E1P HS29K1, HSNH0569I24, hs6M1-9, hs6M1-9p Yes No Ensembl:ENSG00000219262, GenAtlas:OR2E1P, GeneCard:OR2E1P, HGNC:HGNC:15507, NCBI Gene:26719, RefSeq DNA:NG_004088, RefSeq DNA:NT_007592 No chr6 28423307 28423934 28455530 28456157 +PA32155 26211 HGNC:8246 ENSG00000213215 olfactory receptor family 2 subfamily F member 1 OR2F1 """olfactory receptor family 2 subfamily F member 1 (gene/pseudogene)"", ""olfactory receptor, family 2, subfamily F, member 1"", ""olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)""" OLF3, OR14-60, OR2F3, OR2F3P, OR2F4, OR2F5, OR7-139, OR7-140 Yes No Ensembl:ENSG00000213215, GenAtlas:OR2F1, GeneCard:OR2F1, HGNC:HGNC:8246, HumanCyc Gene:HS05088, ModBase:Q13607, NCBI Gene:26211, OMIM:608497, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_036501, RefSeq RNA:NM_012369, UCSC Genome Browser:NM_012369, UniProtKB:Q13607 No chr7 143657020 143658108 143907152 143988540 +PA32156 135948 HGNC:8247 ENSG00000221910 olfactory receptor family 2 subfamily F member 2 OR2F2 olfactory receptor, family 2, subfamily F, member 2 OR7-1 Yes No Ensembl:ENSG00000221910, GenAtlas:OR2F2, GeneCard:OR2F2, HGNC:HGNC:8247, ModBase:O95006, NCBI Gene:135948, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001004685, RefSeq RNA:NM_001004685, UniProtKB:O95006 No chr7 143632326 143633279 143935233 143936186 +PA32158 26717 HGNC:8251 ENSG00000213911 olfactory receptor, family 2, subfamily G, member 1 pseudogene OR2G1P OST619, hs6M1-25 Yes No Ensembl:ENSG00000213911, GenAtlas:OR2G1P, GeneCard:OR2G1P, HGNC:HGNC:8251, NCBI Gene:26717, RefSeq DNA:NG_004689, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29197007 29197997 29229230 29230220 +PA32159 81470 HGNC:15007 ENSG00000177489 olfactory receptor family 2 subfamily G member 2 OR2G2 olfactory receptor, family 2, subfamily G, member 2 Yes No Ensembl:ENSG00000177489, GenAtlas:OR2G2, GeneCard:OR2G2, HGNC:HGNC:15007, ModBase:Q8NGZ5, NCBI Gene:81470, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001915, RefSeq RNA:NM_001001915, UniProtKB:Q8NGZ5 No chr1 247751662 247752615 247588360 247589313 +PA32160 81469 HGNC:15008 ENSG00000177476 olfactory receptor family 2 subfamily G member 3 OR2G3 olfactory receptor, family 2, subfamily G, member 3 Yes No Ensembl:ENSG00000177476, GenAtlas:OR2G3, GeneCard:OR2G3, HGNC:HGNC:15008, ModBase:Q8NGZ4, NCBI Gene:81469, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001914, RefSeq RNA:NM_001001914, UniProtKB:Q8NGZ4 No chr1 247768888 247769817 247605586 247606515 +PA142671228 391211 HGNC:27019 ENSG00000188558 olfactory receptor family 2 subfamily G member 6 OR2G6 olfactory receptor, family 2, subfamily G, member 6 Yes No Ensembl:ENSG00000188558, GeneCard:OR2G6, HGNC:HGNC:27019, ModBase:Q5TZ20, NCBI Gene:391211, RefSeq DNA:NT_167186, RefSeq Protein:NP_001013373, RefSeq RNA:NM_001013355, UniProtKB:Q5TZ20 No chr1 248684948 248685898 248521647 248522597 +PA32161 26716 HGNC:8252 ENSG00000204688, ENSG00000206471, ENSG00000206516, ENSG00000224395, ENSG00000229125, ENSG00000229408, ENSG00000232984, ENSG00000235132 olfactory receptor family 2 subfamily H member 1 OR2H1 olfactory receptor, family 2, subfamily H, member 1 OR2H6, OR2H8, OR6-2 Yes No Ensembl:ENSG00000204688, Ensembl:ENSG00000206471, Ensembl:ENSG00000206516, Ensembl:ENSG00000224395, Ensembl:ENSG00000229125, Ensembl:ENSG00000229408, Ensembl:ENSG00000232984, Ensembl:ENSG00000235132, GenAtlas:OR2H1, GeneCard:OR2H1, HGNC:HGNC:8252, ModBase:Q9GZK4, NCBI Gene:26716, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_112145, RefSeq RNA:NM_030883, UCSC Genome Browser:NM_030883, UniProtKB:B0S7T4, UniProtKB:Q9GZK4 No chr6 29424947 29432099 29457133 29464322 +PA32162 7932 HGNC:8253 ENSG00000204657 olfactory receptor family 2 subfamily H member 2 OR2H2 olfactory receptor, family 2, subfamily H, member 2 hs6M1-12 Yes No Ensembl:ENSG00000204657, GenAtlas:OR2H2, GeneCard:OR2H2, HGNC:HGNC:8253, HumanCyc Gene:HS11581, ModBase:O95918, NCBI Gene:7932, OMIM:600578, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_009091, RefSeq RNA:NM_007160, UniProtKB:O95918 No chr6 29553818 29556745 29586524 29591022 +PA32164 442189 HGNC:8255 olfactory receptor, family 2, subfamily H, member 4 pseudogene OR2H4P OR2H4, OR6-3, dJ80I19.6, hs6M1-7 Yes No GenAtlas:OR2H4P, GeneCard:OR2H4P, HGNC:HGNC:8255, NCBI Gene:442189, RefSeq DNA:NG_004685, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29183013 29183953 29215236 29216176 +PA32165 26713 HGNC:8256 ENSG00000232173 olfactory receptor, family 2, subfamily H, member 5 pseudogene OR2H5P HS271M21, OR2H5, hs6M1-13 Yes No Ensembl:ENSG00000232173, GenAtlas:OR2H5P, GeneCard:OR2H5P, HGNC:HGNC:8256, NCBI Gene:26713, RefSeq DNA:NG_002319, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248 No chr6 29541850 29542428 29574073 29574651 +PA32167 442197 HGNC:8258 ENSG00000237988 olfactory receptor family 2 subfamily I member 1 (gene/pseudogene) OR2I1 olfactory receptor, family 2, subfamily I, member 1 pseudogene HS6M1-14, OR2I1P, OR2I2, OR2I3P, OR2I4P Yes No Ensembl:ENSG00000237988, GenAtlas:OR2I1P, GeneCard:OR2I1P, HGNC:HGNC:8258, ModBase:Q8NGU4, NCBI Gene:442197, RefSeq DNA:NG_004688, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248 No chr6 29520882 29521940 29553105 29554163 +PA32176 442185 HGNC:8259 ENSG00000204702 olfactory receptor family 2 subfamily J member 1 OR2J1 """olfactory receptor family 2 subfamily J member 1 (gene/pseudogene)"", ""olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)""" OR2J1P, OR6-5, dJ80I19.2, hs6M1-4 Yes No Ensembl:ENSG00000204702, GenAtlas:OR2J1, GeneCard:OR2J1, HGNC:HGNC:8259, ModBase:Q9GZK6, NCBI Gene:442185, RefSeq DNA:NG_004683, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29068720 29069655 29100943 29101878 +PA32177 26707 HGNC:8260 ENSG00000204700 olfactory receptor family 2 subfamily J member 2 OR2J2 olfactory receptor, family 2, subfamily J, member 2 OR6-8, dJ80I19.4, hs6M1-6 Yes No Ensembl:ENSG00000204700, GenAtlas:OR2J2, GeneCard:OR2J2, HGNC:HGNC:8260, HumanCyc Gene:HS04824, ModBase:Q9GZL3, NCBI Gene:26707, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_112167, RefSeq RNA:NM_030905, UCSC Genome Browser:NM_030905, UniProtKB:O76002 No chr6 29141311 29142351 29173534 29174574 +PA32178 442186 HGNC:8261 ENSG00000204701 olfactory receptor family 2 subfamily J member 3 OR2J3 olfactory receptor, family 2, subfamily J, member 3 OR6-6 Yes No Ensembl:ENSG00000204701, GenAtlas:OR2J3, GeneCard:OR2J3, HGNC:HGNC:8261, ModBase:O76001, NCBI Gene:442186, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001005216, RefSeq RNA:NM_001005216, UniProtKB:O76001 No chr6 29079587 29080661 29111810 29112884 +PA32179 442188 HGNC:8262 ENSG00000224233 olfactory receptor, family 2, subfamily J, member 4 pseudogene OR2J4P OR6-9, dJ80I19.5, hs6M1-5 Yes No Ensembl:ENSG00000224233, GenAtlas:OR2J4P, GeneCard:OR2J4P, HGNC:HGNC:8262, NCBI Gene:442188, RefSeq DNA:NG_004684, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29149287 29150219 29181510 29182442 +PA32181 26248 HGNC:8264 ENSG00000171133 olfactory receptor family 2 subfamily K member 2 OR2K2 olfactory receptor, family 2, subfamily K, member 2 HSHTPCRH06, HTPCRH06, OR2AR1P Yes No Ensembl:ENSG00000171133, GenAtlas:OR2K2, GeneCard:OR2K2, HGNC:HGNC:8264, ModBase:Q8NGT1, NCBI Gene:26248, RefSeq DNA:NT_008470, RefSeq Protein:NP_995581, RefSeq RNA:NM_205859, UniProtKB:Q8NGT1 No chr9 114089763 114091952 111326884 111330224 +PA134982185 284521 HGNC:19578 ENSG00000196071 olfactory receptor family 2 subfamily L member 13 OR2L13 olfactory receptor, family 2, subfamily L, member 13 OR2L14 Yes No Ensembl:ENSG00000196071, GeneCard:OR2L13, HGNC:HGNC:19578, ModBase:Q8N349, NCBI Gene:284521, RefSeq DNA:NT_167186, RefSeq Protein:NP_787107, RefSeq RNA:NM_175911, UniProtKB:Q8N349 No chr1 248100493 248264224 247937029 248100922 +PA32182 26247 HGNC:8265 ENSG00000224227 olfactory receptor, family 2, subfamily L, member 1 pseudogene OR2L1P HSHTPCRX02, HTPCRX02 Yes No Ensembl:ENSG00000224227, GenAtlas:OR2L1P, GeneCard:OR2L1P, HGNC:HGNC:8265, NCBI Gene:26247, RefSeq DNA:NT_167186, RefSeq RNA:NR_002145 No chr1 248153569 248154493 247990267 247991191 +PA32183 26246 HGNC:8266 ENSG00000203663 olfactory receptor family 2 subfamily L member 2 OR2L2 olfactory receptor, family 2, subfamily L, member 2 HSHTPCRH07, HTPCRH07, OR2L12, OR2L4P Yes No Ensembl:ENSG00000203663, GenAtlas:OR2L2, GeneCard:OR2L2, HGNC:HGNC:8266, ModBase:Q8NH16, NCBI Gene:26246, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004686, RefSeq RNA:NM_001004686, UniProtKB:Q8NH16 No chr1 248201474 248202607 248035420 248039332 +PA32184 391192 HGNC:15009 ENSG00000198128 olfactory receptor family 2 subfamily L member 3 OR2L3 olfactory receptor, family 2, subfamily L, member 3 Yes No Ensembl:ENSG00000198128, GenAtlas:OR2L3, GeneCard:OR2L3, HGNC:HGNC:15009, ModBase:Q8NG85, NCBI Gene:391192, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004687, RefSeq RNA:NM_001004687, UniProtKB:Q8NG85 No chr1 248223984 248224922 248060682 248061620 +PA32186 81466 HGNC:15011 ENSG00000197454 olfactory receptor family 2 subfamily L member 5 OR2L5 olfactory receptor, family 2, subfamily L, member 5 OR2L11, OR2L5P Yes No Ensembl:ENSG00000197454, GenAtlas:OR2L5, GeneCard:OR2L5, HGNC:HGNC:15011, ModBase:Q8NG80, NCBI Gene:81466, RefSeq DNA:NG_004275, RefSeq DNA:NT_167186 No chr1 248185250 248186188 248021948 248022886 +PA32187 81465 HGNC:15012 ENSG00000232215 olfactory receptor, family 2, subfamily L, member 6 pseudogene OR2L6P Yes No Ensembl:ENSG00000232215, GenAtlas:OR2L6P, GeneCard:OR2L6P, HGNC:HGNC:15012, NCBI Gene:81465, RefSeq DNA:NG_004274, RefSeq DNA:NT_167186 No chr1 248166433 248167371 248003131 248004069 +PA32189 391190 HGNC:15014 ENSG00000279263 olfactory receptor family 2 subfamily L member 8 OR2L8 """olfactory receptor family 2 subfamily L member 8 (gene/pseudogene)"", ""olfactory receptor, family 2, subfamily L, member 8"", ""olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)""" Yes No Ensembl:ENSG00000279263, GenAtlas:OR2L8, GeneCard:OR2L8, HGNC:HGNC:15014, ModBase:Q8NGY9, NCBI Gene:391190, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001963, RefSeq RNA:NM_001001963, UniProtKB:Q8NGY9 No chr1 248112160 248113098 247948858 247949796 +PA32190 81462 HGNC:15015 ENSG00000237492 olfactory receptor, family 2, subfamily L, member 9 pseudogene OR2L9P Yes No Ensembl:ENSG00000237492, GenAtlas:OR2L9P, GeneCard:OR2L9P, HGNC:HGNC:15015, NCBI Gene:81462, RefSeq DNA:NG_004273, RefSeq DNA:NT_167186 No chr1 248138045 248138978 247974743 247975676 +PA32191 388762 HGNC:8267 ENSG00000177233 olfactory receptor, family 2, subfamily M, member 1 pseudogene OR2M1P OST037 Yes No Ensembl:ENSG00000177233, GenAtlas:OR2M1P, GeneCard:OR2M1P, HGNC:HGNC:8267, NCBI Gene:388762, RefSeq DNA:NT_167186, RefSeq RNA:NR_002141 No chr1 248285438 248286082 248122136 248122780 +PA32192 391194 HGNC:8268 ENSG00000198601 olfactory receptor family 2 subfamily M member 2 OR2M2 olfactory receptor, family 2, subfamily M, member 2 OR2M2Q, OST423 Yes No Ensembl:ENSG00000198601, GenAtlas:OR2M2, GeneCard:OR2M2, HGNC:HGNC:8268, ModBase:Q96R28, NCBI Gene:391194, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004688, RefSeq RNA:NM_001004688, UniProtKB:Q96R28 No chr1 248343288 248344331 248179986 248181029 +PA32193 127062 HGNC:8269 ENSG00000228198 olfactory receptor family 2 subfamily M member 3 OR2M3 olfactory receptor, family 2, subfamily M, member 3 OR2M3P, OR2M6, OST003 Yes No Ensembl:ENSG00000228198, GenAtlas:OR2M3, GeneCard:OR2M3, HGNC:HGNC:8269, ModBase:Q8NG83, NCBI Gene:127062, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004689, RefSeq RNA:NM_001004689, UniProtKB:Q8NG83 No chr1 248366370 248367308 248203068 248204006 +PA32194 26245 HGNC:8270 ENSG00000171180 olfactory receptor family 2 subfamily M member 4 OR2M4 olfactory receptor, family 2, subfamily M, member 4 HSHTPCRX18, HTPCRX18, OST710, TPCR100 Yes No Ensembl:ENSG00000171180, GenAtlas:OR2M4, GeneCard:OR2M4, HGNC:HGNC:8270, HumanCyc Gene:HS10261, ModBase:Q96R27, NCBI Gene:26245, RefSeq DNA:NT_167186, RefSeq Protein:NP_059974, RefSeq RNA:NM_017504, UniProtKB:Q96R27 No chr1 248402231 248403166 248238929 248239864 +PA134871998 127059 HGNC:19576 ENSG00000162727 olfactory receptor family 2 subfamily M member 5 OR2M5 olfactory receptor, family 2, subfamily M, member 5 OR2M5P Yes No Ensembl:ENSG00000162727, GeneCard:OR2M5, HGNC:HGNC:19576, ModBase:A3KFT3, NCBI Gene:127059, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004690, RefSeq RNA:NM_001004690, UniProtKB:A3KFT3 No chr1 248308450 248309388 248145148 248146086 +PA134874354 391196 HGNC:19594 ENSG00000177186 olfactory receptor family 2 subfamily M member 7 OR2M7 olfactory receptor, family 2, subfamily M, member 7 Yes No Ensembl:ENSG00000177186, GeneCard:OR2M7, HGNC:HGNC:19594, ModBase:Q8NG81, NCBI Gene:391196, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004691, RefSeq RNA:NM_001004691, UniProtKB:Q8NG81 No chr1 248486932 248487870 248323630 248324568 +PA32195 26701 HGNC:8271 olfactory receptor, family 2, subfamily N, member 1 pseudogene OR2N1P OR6-7 Yes No GenAtlas:OR2N1P, GeneCard:OR2N1P, HGNC:HGNC:8271, NCBI Gene:26701, RefSeq DNA:NG_002216, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, UCSC Genome Browser:NM_012348 No chr6 29105547 29106693 29137770 29138916 +PA32196 442183 HGNC:8272 ENSG00000236909 olfactory receptor, family 2, subfamily P, member 1 pseudogene OR2P1P hs6M1-26 Yes No Ensembl:ENSG00000236909, GenAtlas:OR2P1P, GeneCard:OR2P1P, HGNC:HGNC:8272, NCBI Gene:442183, RefSeq DNA:NG_004693, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29039609 29040343 29071832 29072566 +PA32197 346524 HGNC:8273 ENSG00000273377 olfactory receptor, family 2, subfamily Q, member 1 pseudogene OR2Q1P OR7-2 Yes No Ensembl:ENSG00000273377, GenAtlas:OR2Q1P, GeneCard:OR2Q1P, HGNC:HGNC:8273, NCBI Gene:346524, RefSeq DNA:NG_004310, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 143677898 143679025 143980805 143981932 +PA32198 392132 HGNC:8274 ENSG00000236853 olfactory receptor, family 2, subfamily R, member 1, pseudogene OR2R1P OST058 Yes No Ensembl:ENSG00000236853, GenAtlas:OR2R1P, GeneCard:OR2R1P, HGNC:HGNC:8274, NCBI Gene:392132, RefSeq DNA:NG_004373, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 143185555 143186502 143488462 143489409 +PA32199 392313 HGNC:8275 ENSG00000228307 olfactory receptor, family 2, subfamily S, member 1 pseudogene OR2S1P OST611 Yes No Ensembl:ENSG00000228307, GenAtlas:OR2S1P, GeneCard:OR2S1P, HGNC:HGNC:8275, NCBI Gene:392313, RefSeq DNA:NG_004379, RefSeq DNA:NT_008413 No chr9 36013182 36014128 36013185 36014131 +PA32200 56656 HGNC:8276 ENSG00000278889 olfactory receptor family 2 subfamily S member 2 OR2S2 """olfactory receptor family 2 subfamily S member 2 (gene/pseudogene)"", ""olfactory receptor, family 2, subfamily S, member 2""" Yes No Ensembl:ENSG00000278889, GenAtlas:OR2S2, GeneCard:OR2S2, HGNC:HGNC:8276, HumanCyc Gene:HS04596, ModBase:Q9NQN1, NCBI Gene:56656, RefSeq DNA:NT_008413, RefSeq Protein:NP_063950, RefSeq RNA:NM_019897, UCSC Genome Browser:NM_019897, UniProtKB:Q9NQN1 No chr9 35957105 35958151 35957108 35958154 +PA32201 26696 HGNC:8277 ENSG00000175143 olfactory receptor family 2 subfamily T member 1 OR2T1 olfactory receptor, family 2, subfamily T, member 1 OR1-25 Yes No Ensembl:ENSG00000175143, GenAtlas:OR2T1, GeneCard:OR2T1, HGNC:HGNC:8277, HumanCyc Gene:HS10886, ModBase:O43869, NCBI Gene:26696, RefSeq DNA:NT_167186, RefSeq Protein:NP_112166, RefSeq RNA:NM_030904, UniProtKB:O43869 No chr1 248569296 248570405 248405995 248407104 +PA134982857 127069 HGNC:19573 ENSG00000184022 olfactory receptor family 2 subfamily T member 10 OR2T10 olfactory receptor, family 2, subfamily T, member 10 Yes No Ensembl:ENSG00000184022, GeneCard:OR2T10, HGNC:HGNC:19573, ModBase:Q8NGZ9, NCBI Gene:127069, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004693, RefSeq RNA:NM_001004693, UniProtKB:Q8NGZ9 No chr1 248756131 248757069 248483404 248645469 +PA134948800 127077 HGNC:19574 ENSG00000279301 olfactory receptor family 2 subfamily T member 11 OR2T11 """olfactory receptor family 2 subfamily T member 11 (gene/pseudogene)"", ""olfactory receptor, family 2, subfamily T, member 11"", ""olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)""" OR2T11Q Yes No Ensembl:ENSG00000279301, GeneCard:OR2T11, HGNC:HGNC:19574, ModBase:Q8NH01, NCBI Gene:127077, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001964, RefSeq RNA:NM_001001964, UniProtKB:Q8NH01 No chr1 248789479 248790429 248626178 248627128 +PA134941840 127064 HGNC:19592 ENSG00000177201 olfactory receptor family 2 subfamily T member 12 OR2T12 olfactory receptor, family 2, subfamily T, member 12 Yes No Ensembl:ENSG00000177201, GeneCard:OR2T12, HGNC:HGNC:19592, ModBase:Q8NG77, NCBI Gene:127064, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004692, RefSeq RNA:NM_001004692, UniProtKB:Q8NG77 No chr1 248457918 248458880 248294616 248295578 +PA32202 401992 HGNC:14725 ENSG00000196240 olfactory receptor family 2 subfamily T member 2 OR2T2 olfactory receptor, family 2, subfamily T, member 2 OR2T2P Yes No Ensembl:ENSG00000196240, GeneCard:OR2T2, HGNC:HGNC:14725, ModBase:Q6IF00, NCBI Gene:401992, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004136, RefSeq RNA:NM_001004136, UniProtKB:Q6IF00 No chr1 248616099 248617073 248452798 248453772 +PA134945560 403239 HGNC:31252 ENSG00000187701 olfactory receptor family 2 subfamily T member 27 OR2T27 olfactory receptor, family 2, subfamily T, member 27 Yes No Ensembl:ENSG00000187701, GeneCard:OR2T27, HGNC:HGNC:31252, ModBase:Q8NH04, NCBI Gene:403239, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001824, RefSeq RNA:NM_001001824, UniProtKB:Q8NH04 No chr1 248813232 248814185 248649931 248650884 +PA134876557 343563 HGNC:31253 ENSG00000182783 olfactory receptor family 2 subfamily T member 29 OR2T29 olfactory receptor, family 2, subfamily T, member 29 Yes No Ensembl:ENSG00000182783, GeneCard:OR2T29, HGNC:HGNC:31253, ModBase:Q8NH02, NCBI Gene:343563, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004694, RefSeq RNA:NM_001004694, UniProtKB:Q8NH00, UniProtKB:Q8NH02 No chr1 248721845 248722792 248558544 248559491 +PA32203 343173 HGNC:14727 ENSG00000196539 olfactory receptor family 2 subfamily T member 3 OR2T3 olfactory receptor, family 2, subfamily T, member 3 Yes No Ensembl:ENSG00000196539, GenAtlas:OR2T3, GeneCard:OR2T3, HGNC:HGNC:14727, ModBase:Q8NH03, NCBI Gene:343173, RefSeq DNA:NT_167186, RefSeq Protein:NP_001005495, RefSeq RNA:NM_001005495, UniProtKB:Q8NH03 No chr1 248636652 248637608 248473351 248474307 +PA134982934 403241 HGNC:31254 ENSG00000197067 olfactory receptor, family 2, subfamily T, member 32 pseudogene OR2T32P Yes No Ensembl:ENSG00000197067, GeneCard:OR2T32P, HGNC:HGNC:31254, NCBI Gene:403241, RefSeq DNA:NG_004411, RefSeq DNA:NT_167186 No chr1 248246935 248247898 248083633 248084596 +PA134889138 391195 HGNC:31255 ENSG00000177212 olfactory receptor family 2 subfamily T member 33 OR2T33 olfactory receptor, family 2, subfamily T, member 33 Yes No Ensembl:ENSG00000177212, GeneCard:OR2T33, HGNC:HGNC:31255, ModBase:Q8NG76, NCBI Gene:391195, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004695, RefSeq RNA:NM_001004695, UniProtKB:Q8NG76 No chr1 248436154 248437116 248272852 248273814 +PA134944535 127068 HGNC:31256 ENSG00000183310 olfactory receptor family 2 subfamily T member 34 OR2T34 olfactory receptor, family 2, subfamily T, member 34 Yes No Ensembl:ENSG00000183310, GeneCard:OR2T34, HGNC:HGNC:31256, ModBase:Q8NGX1, NCBI Gene:127068, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001821, RefSeq RNA:NM_001001821, UniProtKB:Q8NGX1 No chr1 248737102 248738058 248573801 248574757 +PA134968902 403244 HGNC:31257 ENSG00000177151 olfactory receptor family 2 subfamily T member 35 (gene/pseudogene) OR2T35 """olfactory receptor family 2 subfamily T member 35"", ""olfactory receptor, family 2, subfamily T, member 35""" Yes No Ensembl:ENSG00000177151, GeneCard:OR2T35, HGNC:HGNC:31257, ModBase:Q8NGX2, NCBI Gene:403244, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001827, RefSeq RNA:NM_001001827, UniProtKB:Q8NGX2 No chr1 248801588 248802559 248638287 248639258 +PA32204 127074 HGNC:15016 ENSG00000196944 olfactory receptor family 2 subfamily T member 4 OR2T4 olfactory receptor, family 2, subfamily T, member 4 OR2T4Q Yes No Ensembl:ENSG00000196944, GenAtlas:OR2T4, GeneCard:OR2T4, HGNC:HGNC:15016, ModBase:Q8NH00, NCBI Gene:127074, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004696, RefSeq RNA:NM_001004696 No chr1 248524883 248525929 248361581 248362627 +PA32205 401993 HGNC:15017 ENSG00000203661 olfactory receptor family 2 subfamily T member 5 OR2T5 olfactory receptor, family 2, subfamily T, member 5 Yes No Ensembl:ENSG00000203661, GenAtlas:OR2T5, GeneCard:OR2T5, HGNC:HGNC:15017, ModBase:Q6IEZ7, NCBI Gene:401993, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004697, RefSeq RNA:NM_001004697, UniProtKB:Q6IEZ7 No chr1 248651890 248652837 248488589 248489536 +PA32206 254879 HGNC:15018 ENSG00000198104 olfactory receptor family 2 subfamily T member 6 OR2T6 olfactory receptor, family 2, subfamily T, member 6 OR2T6P, OR2T9, OST703 Yes No Ensembl:ENSG00000198104, GenAtlas:OR2T6, GeneCard:OR2T6, HGNC:HGNC:15018, ModBase:Q8NHC8, NCBI Gene:254879, RefSeq DNA:NT_167186, RefSeq Protein:NP_001005471, RefSeq RNA:NM_001005471, UniProtKB:Q8NHC8 No chr1 248550910 248551836 248387609 248388535 +PA32207 81458 HGNC:15019 ENSG00000227152 olfactory receptor family 2 subfamily T member 7 (gene/pseudogene) OR2T7 """olfactory receptor family 2 subfamily T member 7"", ""olfactory receptor, family 2, subfamily T, member 7""" OR2T7P, OST723 Yes No Ensembl:ENSG00000227152, GenAtlas:OR2T7, GeneCard:OR2T7, HGNC:HGNC:15019, NCBI Gene:81458, RefSeq DNA:NG_004272, RefSeq DNA:NT_167186 No chr1 248604483 248605434 248441182 248442133 +PA32208 343172 HGNC:15020 ENSG00000177462 olfactory receptor family 2 subfamily T member 8 OR2T8 olfactory receptor, family 2, subfamily T, member 8 OR2T8P Yes No Ensembl:ENSG00000177462, GenAtlas:OR2T8, GeneCard:OR2T8, HGNC:HGNC:15020, ModBase:A6NH00, NCBI Gene:343172, RefSeq DNA:NT_167186, RefSeq Protein:NP_001005522, RefSeq RNA:NM_001005522, UniProtKB:A6NH00 No chr1 248080963 248085258 247914138 247923152 +PA32209 26695 HGNC:8278 ENSG00000204697 olfactory receptor, family 2, subfamily U, member 1 pseudogene OR2U1P hs6M1-24 Yes No Ensembl:ENSG00000204697, GenAtlas:OR2U1P, GeneCard:OR2U1P, HGNC:HGNC:8278, NCBI Gene:26695, RefSeq DNA:NG_004625, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167249 No chr6 29230436 29231856 29262659 29264079 +PA32210 26694 HGNC:8279 ENSG00000242524 olfactory receptor, family 2, subfamily U, member 2 pseudogene OR2U2P hs6M1-23 Yes No Ensembl:ENSG00000242524, GenAtlas:OR2U2P, GeneCard:OR2U2P, HGNC:HGNC:8279, NCBI Gene:26694, RefSeq DNA:NG_004687, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167249 No chr6 29236242 29237198 29268465 29269421 +PA32211 26693 HGNC:8280 ENSG00000185372 olfactory receptor family 2 subfamily V member 1 OR2V1 olfactory receptor, family 2, subfamily V, member 1 OR2V1P, OST265 Yes No Ensembl:ENSG00000185372, GenAtlas:OR2V1, GeneCard:OR2V1, HGNC:HGNC:8280, ModBase:Q8NHB1, NCBI Gene:26693, RefSeq DNA:NG_004137, RefSeq DNA:NT_023133 No chr5 180551339 180556557 181124357 181125304 +PA32212 285659 HGNC:15341 ENSG00000182613 olfactory receptor family 2 subfamily V member 2 OR2V2 olfactory receptor, family 2, subfamily V, member 2 OR2V3, OST713 Yes No Ensembl:ENSG00000182613, GenAtlas:OR2V2, GeneCard:OR2V2, HGNC:HGNC:15341, ModBase:Q96R30, NCBI Gene:285659, RefSeq DNA:NT_023133, RefSeq Protein:NP_996763, RefSeq RNA:NM_206880, UniProtKB:Q96R30 No chr5 180581943 180582890 181154943 181155890 +PA32214 26692 HGNC:8281 ENSG00000204704, ENSG00000206525, ENSG00000226463, ENSG00000227639, ENSG00000228652, ENSG00000228977, ENSG00000229328, ENSG00000234101 olfactory receptor family 2 subfamily W member 1 OR2W1 olfactory receptor, family 2, subfamily W, member 1 hs6M1-15 Yes No Ensembl:ENSG00000204704, Ensembl:ENSG00000206525, Ensembl:ENSG00000226463, Ensembl:ENSG00000227639, Ensembl:ENSG00000228652, Ensembl:ENSG00000228977, Ensembl:ENSG00000229328, Ensembl:ENSG00000234101, GenAtlas:OR2W1, GeneCard:OR2W1, HGNC:HGNC:8281, HumanCyc Gene:HS04822, ModBase:Q9Y3N9, NCBI Gene:26692, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_112165, RefSeq RNA:NM_030903, UCSC Genome Browser:NM_030903, UniProtKB:Q9Y3N9 No chr6 29011990 29012952 29044213 29045175 +PA32215 81694 HGNC:13970 ENSG00000217315 olfactory receptor, family 2, subfamily W, member 2 pseudogene OR2W2P hs6M1-30P Yes No Ensembl:ENSG00000217315, GenAtlas:OR2W2P, GeneCard:OR2W2P, HGNC:HGNC:13970, NCBI Gene:81694, RefSeq DNA:NG_004279, RefSeq DNA:NT_007592 No chr6 28001693 28002640 28033915 28034862 +PA32216 343171 HGNC:15021 ENSG00000238243 olfactory receptor family 2 subfamily W member 3 OR2W3 olfactory receptor, family 2, subfamily W, member 3 OR2W3P, OR2W8P, OST718 Yes No Ensembl:ENSG00000238243, GenAtlas:OR2W3, GeneCard:OR2W3, HGNC:HGNC:15021, ModBase:Q7Z3T1, NCBI Gene:343171, RefSeq DNA:NT_167186, RefSeq Protein:NP_001001957, RefSeq RNA:NM_001001957, UniProtKB:Q7Z3T1 No chr1 248058889 248059833 247895587 247896531 +PA32217 81407 HGNC:15071 ENSG00000216629 olfactory receptor, family 2, subfamily W, member 4 pseudogene OR2W4P Yes No Ensembl:ENSG00000216629, GenAtlas:OR2W4P, GeneCard:OR2W4P, HGNC:HGNC:15071, NCBI Gene:81407, RefSeq DNA:NG_004261, RefSeq DNA:NT_007592 No chr6 27944929 27945851 27977151 27978073 +PA32219 81406 HGNC:15072 ENSG00000168126 olfactory receptor, family 2, subfamily W, member 6 pseudogene OR2W6P Yes No Ensembl:ENSG00000168126, GenAtlas:OR2W6P, GeneCard:OR2W6P, HGNC:HGNC:15072, ModBase:Q8NHA6, NCBI Gene:81406, RefSeq DNA:NG_004260, RefSeq DNA:NT_007592 No chr6 27905182 27906179 27937404 27938401 +PA134885598 403245 HGNC:31258 ENSG00000224830 olfactory receptor, family 2, subfamily X, member 1 pseudogene OR2X1P Yes No Ensembl:ENSG00000224830, GeneCard:OR2X1P, HGNC:HGNC:31258, NCBI Gene:403245, RefSeq DNA:NG_004412, RefSeq DNA:NT_167186 No chr1 248102374 248103118 247939072 247939816 +PA32220 134083 HGNC:14837 ENSG00000174339 olfactory receptor family 2 subfamily Y member 1 OR2Y1 olfactory receptor, family 2, subfamily Y, member 1 Yes No Ensembl:ENSG00000174339, GenAtlas:OR2Y1, GeneCard:OR2Y1, HGNC:HGNC:14837, ModBase:Q8NGV0, NCBI Gene:134083, RefSeq DNA:NT_023133, RefSeq Protein:NP_001001657, RefSeq RNA:NM_001001657, UniProtKB:Q8NGV0 No chr5 180166123 180167058 180739123 180740058 +PA32221 284383 HGNC:15391 ENSG00000181733 olfactory receptor family 2 subfamily Z member 1 OR2Z1 olfactory receptor, family 2, subfamily Z, member 1 OR2Z2 Yes No Ensembl:ENSG00000181733, GenAtlas:OR2Z1, GeneCard:OR2Z1, HGNC:HGNC:15391, ModBase:Q8NG97, NCBI Gene:284383, RefSeq DNA:NT_011295, RefSeq Protein:NP_001004699, RefSeq RNA:NM_001004699, UniProtKB:Q8NG97 No chr19 8841391 8842335 8730954 8732009 +PA32223 4994 HGNC:8282 ENSG00000180090 olfactory receptor family 3 subfamily A member 1 OR3A1 olfactory receptor, family 3, subfamily A, member 1 OLFRA03, OR17-40, OR40 Yes No Ensembl:ENSG00000180090, GenAtlas:OR3A1, GeneCard:OR3A1, HGNC:HGNC:8282, HumanCyc Gene:HS11447, ModBase:P47881, NCBI Gene:4994, RefSeq DNA:NT_010718, RefSeq Protein:NP_002541, RefSeq RNA:NM_002550, UCSC Genome Browser:NM_002550, UniProtKB:P47881 No chr17 3194929 3195876 3288318 3336087 +PA32224 4995 HGNC:8283 ENSG00000221882 olfactory receptor family 3 subfamily A member 2 OR3A2 olfactory receptor, family 3, subfamily A, member 2 OLFRA04, OR17-228, OR228 Yes No Ensembl:ENSG00000221882, GenAtlas:OR3A2, GeneCard:OR3A2, HGNC:HGNC:8283, ModBase:P47893, NCBI Gene:4995, RefSeq DNA:NT_010718, RefSeq Protein:NP_002542, RefSeq RNA:NM_002551, UCSC Genome Browser:NM_002551, UniProtKB:P47893 No chr17 3181184 3182268 3276113 3386311 +PA32225 8392 HGNC:8284 ENSG00000159961 olfactory receptor family 3 subfamily A member 3 OR3A3 olfactory receptor, family 3, subfamily A, member 3 OR17-137, OR17-16, OR17-201, OR3A6, OR3A7, OR3A8P Yes No Ensembl:ENSG00000159961, GenAtlas:OR3A3, GeneCard:OR3A3, HGNC:HGNC:8284, HumanCyc Gene:HS08437, ModBase:P47888, NCBI Gene:8392, RefSeq DNA:NT_010718, RefSeq Protein:NP_036505, RefSeq RNA:NM_012373, UCSC Genome Browser:NM_012373, UniProtKB:P47888 No chr17 3323862 3324827 3420424 3421805 +PA32226 390756 HGNC:15510 ENSG00000180068 olfactory receptor, family 3, subfamily A, member 4 pseudogene OR3A4P Yes No Ensembl:ENSG00000180068, GenAtlas:OR3A4, GeneCard:OR3A4P, HGNC:HGNC:15510, ModBase:P47883, NCBI Gene:390756, RefSeq DNA:NT_010718, RefSeq RNA:NR_024128 No chr17 3213539 3214740 3310245 3311446 +PA32228 392561 HGNC:14839 ENSG00000237619 olfactory receptor, family 3, subfamily B, member 1 pseudogene OR3B1P Yes No Ensembl:ENSG00000237619, GenAtlas:OR3B1P, GeneCard:OR3B1P, HGNC:HGNC:14839, NCBI Gene:392561, RefSeq DNA:NG_004382, RefSeq DNA:NT_167198 No chrX 153887007 153887935 154658733 154659661 +PA142671227 504175 HGNC:25339 ENSG00000230411 olfactory receptor, family 3, subfamily D, member 1 pseudogene OR3D1P Yes No Ensembl:ENSG00000230411, GeneCard:OR3D1P, HGNC:HGNC:25339, NCBI Gene:504175, RefSeq DNA:NG_004862, RefSeq DNA:NT_167186 No chr1 247830184 247831119 247666882 247667817 +PA32229 390138 HGNC:15147 ENSG00000255493 olfactory receptor, family 4, subfamily A, member 10 pseudogene OR4A10P Yes No Ensembl:ENSG00000255493, GenAtlas:OR4A10P, GeneCard:OR4A10P, HGNC:HGNC:15147, NCBI Gene:390138, RefSeq DNA:NG_004334, RefSeq DNA:NT_167190 No chr11 55199434 55199844 55431958 55432368 +PA32230 390136 HGNC:15148 ENSG00000254663 olfactory receptor, family 4, subfamily A, member 11 pseudogene OR4A11P Yes No Ensembl:ENSG00000254663, GenAtlas:OR4A11P, GeneCard:OR4A11P, HGNC:HGNC:15148, NCBI Gene:390136, RefSeq DNA:NG_004332, RefSeq DNA:NT_167190 No chr11 55086037 55086954 55318561 55319478 +PA32231 81331 HGNC:15149 ENSG00000254723 olfactory receptor, family 4, subfamily A, member 12 pseudogene OR4A12P Yes No Ensembl:ENSG00000254723, GenAtlas:OR4A12P, GeneCard:OR4A12P, HGNC:HGNC:15149, NCBI Gene:81331, RefSeq DNA:NG_004243, RefSeq DNA:NT_167190 No chr11 55093233 55094177 55325757 55326701 +PA32232 81330 HGNC:15150 ENSG00000181950 olfactory receptor, family 4, subfamily A, member 13 pseudogene OR4A13P Yes No Ensembl:ENSG00000181950, GenAtlas:OR4A13P, GeneCard:OR4A13P, HGNC:HGNC:15150, NCBI Gene:81330, RefSeq DNA:NG_004242, RefSeq DNA:NT_167190 No chr11 55234248 55235189 55466772 55467713 +PA32233 81329 HGNC:15151 olfactory receptor, family 4, subfamily A, member 14 pseudogene OR4A14P Yes No GenAtlas:OR4A14P, GeneCard:OR4A14P, HGNC:HGNC:15151, NCBI Gene:81329, RefSeq DNA:NG_004241, RefSeq DNA:NT_167190 No chr11 55245028 55245986 55477552 55478510 +PA32234 81328 HGNC:15152 ENSG00000181958 olfactory receptor family 4 subfamily A member 15 OR4A15 olfactory receptor, family 4, subfamily A, member 15 Yes No Ensembl:ENSG00000181958, GenAtlas:OR4A15, GeneCard:OR4A15, HGNC:HGNC:15152, ModBase:Q8NGL6, NCBI Gene:81328, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005275, RefSeq RNA:NM_001005275, UniProtKB:Q8NGL6 No chr11 55135360 55136394 55367884 55368918 +PA32235 81327 HGNC:15153 ENSG00000181961 olfactory receptor family 4 subfamily A member 16 OR4A16 olfactory receptor, family 4, subfamily A, member 16 OR4A16Q Yes No Ensembl:ENSG00000181961, GenAtlas:OR4A16, GeneCard:OR4A16, HGNC:HGNC:15153, ModBase:Q8NH70, NCBI Gene:81327, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005274, RefSeq RNA:NM_001005274, UniProtKB:Q8NH70 No chr11 55110677 55111663 55343201 55344187 +PA32236 390139 HGNC:15154 ENSG00000255196 olfactory receptor, family 4, subfamily A, member 17 pseudogene OR4A17P Yes No Ensembl:ENSG00000255196, GenAtlas:OR4A17P, GeneCard:OR4A17P, HGNC:HGNC:15154, NCBI Gene:390139, RefSeq DNA:NG_004335, RefSeq DNA:NT_167190 No chr11 55211912 55212815 55444436 55445339 +PA32237 81325 HGNC:15155 ENSG00000254637 olfactory receptor, family 4, subfamily A, member 18 pseudogene OR4A18P Yes No Ensembl:ENSG00000254637, GenAtlas:OR4A18P, GeneCard:OR4A18P, HGNC:HGNC:15155, NCBI Gene:81325, RefSeq DNA:NG_004240, RefSeq DNA:NT_009237 No chr11 49938942 49940029 49917390 49918477 +PA32238 81324 HGNC:15156 ENSG00000254940 olfactory receptor, family 4, subfamily A, member 19 pseudogene OR4A19P Yes No Ensembl:ENSG00000254940, GenAtlas:OR4A19P, GeneCard:OR4A19P, HGNC:HGNC:15156, NCBI Gene:81324, RefSeq DNA:NG_004239, RefSeq DNA:NT_009237 No chr11 49941863 49942965 49920311 49921413 +PA32239 8596 HGNC:8289 ENSG00000254408 olfactory receptor, family 4, subfamily A, member 1 pseudogene OR4A1P OR11-30 Yes No Ensembl:ENSG00000254408, GenAtlas:OR4A1P, GeneCard:OR4A1P, HGNC:HGNC:8289, NCBI Gene:8596, RefSeq DNA:NG_002173, RefSeq DNA:NT_009237 No chr11 49919833 49920738 49898281 49899186 +PA32241 81322 HGNC:15158 ENSG00000181943 olfactory receptor, family 4, subfamily A, member 21 pseudogene OR4A21P Yes No Ensembl:ENSG00000181943, GenAtlas:OR4A21P, GeneCard:OR4A21P, HGNC:HGNC:15158, NCBI Gene:81322, RefSeq DNA:NG_004238, RefSeq DNA:NT_167190 No chr11 55258633 55259622 55491157 55492146 +PA32242 390133 HGNC:15159 ENSG00000227547 olfactory receptor, family 4, subfamily A, member 2 pseudogene OR4A2P Yes No Ensembl:ENSG00000227547, GenAtlas:OR4A2P, GeneCard:OR4A2P, HGNC:HGNC:15159, NCBI Gene:390133, RefSeq DNA:NG_004330, RefSeq DNA:NT_035158 No chr11 51451069 51451981 54667299 54668211 +PA32243 81320 HGNC:15160 ENSG00000254464 olfactory receptor, family 4, subfamily A, member 3 pseudogene OR4A3P Yes No Ensembl:ENSG00000254464, GenAtlas:OR4A3P, GeneCard:OR4A3P, HGNC:HGNC:15160, NCBI Gene:81320, RefSeq DNA:NG_004237, RefSeq DNA:NT_035158 No chr11 51455829 51456699 54662581 54663451 +PA134882267 390116 HGNC:31259 ENSG00000254832 olfactory receptor, family 4, subfamily A, member 40 pseudogene OR4A40P Yes No Ensembl:ENSG00000254832, GeneCard:OR4A40P, HGNC:HGNC:31259, NCBI Gene:390116, RefSeq DNA:NG_004327, RefSeq DNA:NT_009237 No chr11 48533873 48534816 48512321 48513264 +PA134927877 403247 HGNC:31260 ENSG00000255297 olfactory receptor, family 4, subfamily A, member 41 pseudogene OR4A41P Yes No Ensembl:ENSG00000255297, GeneCard:OR4A41P, HGNC:HGNC:31260, NCBI Gene:403247, RefSeq DNA:NG_004413, RefSeq DNA:NT_009237 No chr11 48611292 48612243 48589740 48590691 +PA134867363 403248 HGNC:31261 ENSG00000254674 olfactory receptor, family 4, subfamily A, member 42 pseudogene OR4A42P Yes No Ensembl:ENSG00000254674, GeneCard:OR4A42P, HGNC:HGNC:31261, NCBI Gene:403248, RefSeq DNA:NG_004414, RefSeq DNA:NT_009237 No chr11 48631616 48632549 48610064 48610997 +PA134917280 390117 HGNC:31262 ENSG00000255534 olfactory receptor, family 4, subfamily A, member 43 pseudogene OR4A43P Yes No Ensembl:ENSG00000255534, GeneCard:OR4A43P, HGNC:HGNC:31262, NCBI Gene:390117, RefSeq DNA:NG_004328, RefSeq DNA:NT_009237 No chr11 48547617 48548527 48526065 48526975 +PA134881954 403250 HGNC:31263 ENSG00000255053 olfactory receptor, family 4, subfamily A, member 44 pseudogene OR4A44P Yes No Ensembl:ENSG00000255053, GeneCard:OR4A44P, HGNC:HGNC:31263, NCBI Gene:403250, RefSeq DNA:NG_004415, RefSeq DNA:NT_009237 No chr11 48649033 48650013 48627481 48628461 +PA134901485 403251 HGNC:31264 ENSG00000213607 olfactory receptor, family 4, subfamily A, member 45 pseudogene OR4A45P Yes No Ensembl:ENSG00000213607, GeneCard:OR4A45P, HGNC:HGNC:31264, NCBI Gene:403251, RefSeq DNA:NG_004416, RefSeq DNA:NT_009237 No chr11 48600935 48602000 48579383 48580448 +PA134887311 403252 HGNC:31265 ENSG00000255304 olfactory receptor, family 4, subfamily A, member 46 pseudogene OR4A46P Yes No Ensembl:ENSG00000255304, GeneCard:OR4A46P, HGNC:HGNC:31265, NCBI Gene:403252, RefSeq DNA:NG_004417, RefSeq DNA:NT_009237 No chr11 48517871 48518811 48496319 48497259 +PA134952685 403253 HGNC:31266 ENSG00000237388 olfactory receptor family 4 subfamily A member 47 OR4A47 olfactory receptor, family 4, subfamily A, member 47 Yes No Ensembl:ENSG00000237388, GeneCard:OR4A47, HGNC:HGNC:31266, ModBase:Q6IF82, NCBI Gene:403253, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005512, RefSeq RNA:NM_001005512, UniProtKB:Q6IF82 No chr11 48510345 48511274 48488793 48489722 +PA134906878 403254 HGNC:31267 ENSG00000255113 olfactory receptor, family 4, subfamily A, member 48 pseudogene OR4A48P Yes No Ensembl:ENSG00000255113, GeneCard:OR4A48P, HGNC:HGNC:31267, NCBI Gene:403254, RefSeq DNA:NG_004418, RefSeq DNA:NT_009237 No chr11 48513274 48514047 48491722 48492495 +PA134867965 403255 HGNC:31268 ENSG00000254472 olfactory receptor, family 4, subfamily A, member 49 pseudogene OR4A49P Yes No Ensembl:ENSG00000254472, GeneCard:OR4A49P, HGNC:HGNC:31268, NCBI Gene:403255, RefSeq DNA:NG_004419, RefSeq DNA:NT_009237 No chr11 49936564 49937195 49915012 49915643 +PA32244 390134 HGNC:15161 ENSG00000254769 olfactory receptor, family 4, subfamily A, member 4 pseudogene OR4A4P Yes No Ensembl:ENSG00000254769, GenAtlas:OR4A4P, GeneCard:OR4A4P, HGNC:HGNC:15161, ModBase:Q8NGN8, NCBI Gene:390134, RefSeq DNA:NG_004331, RefSeq DNA:NT_035158 No chr11 51458684 51459613 54659667 54660596 +PA32245 81318 HGNC:15162 ENSG00000221840 olfactory receptor family 4 subfamily A member 5 OR4A5 olfactory receptor, family 4, subfamily A, member 5 Yes No Ensembl:ENSG00000221840, GenAtlas:OR4A5, GeneCard:OR4A5, HGNC:HGNC:15162, ModBase:Q8NH83, NCBI Gene:81318, RefSeq DNA:NT_035158, RefSeq Protein:NP_001005272, RefSeq RNA:NM_001005272 No chr11 51411378 51412448 54706832 54707902 +PA134934033 403256 HGNC:31269 ENSG00000255294 olfactory receptor, family 4, subfamily A, member 50 pseudogene OR4A50P Yes No Ensembl:ENSG00000255294, GeneCard:OR4A50P, HGNC:HGNC:31269, NCBI Gene:403256, RefSeq DNA:NG_004420, RefSeq DNA:NT_167190 No chr11 55243420 55243905 55475944 55476429 +PA32246 390131 HGNC:15163 ENSG00000255078 olfactory receptor, family 4, subfamily A, member 6 pseudogene OR4A6P Yes No Ensembl:ENSG00000255078, GenAtlas:OR4A6P, GeneCard:OR4A6P, HGNC:HGNC:15163, NCBI Gene:390131, RefSeq DNA:NG_004329, RefSeq DNA:NT_035158 No chr11 51393463 51394432 54724848 54725817 +PA32247 81316 HGNC:15164 ENSG00000255349 olfactory receptor, family 4, subfamily A, member 7 pseudogene OR4A7P Yes No Ensembl:ENSG00000255349, GenAtlas:OR4A7P, GeneCard:OR4A7P, HGNC:HGNC:15164, NCBI Gene:81316, RefSeq DNA:NG_004236, RefSeq DNA:NT_035158 No chr11 51425920 51426829 54692451 54693360 +PA32248 81315 HGNC:15165 ENSG00000225997 olfactory receptor family 4 subfamily A member 8 (gene/pseudogene) OR4A8 """olfactory receptor, family 4, subfamily A, member 8 (gene/pseudogene)"", ""olfactory receptor, family 4, subfamily A, member 8 pseudogene""" OR4A8P Yes No Ensembl:ENSG00000225997, GenAtlas:OR4A8P, GeneCard:OR4A8P, HGNC:HGNC:15165, NCBI Gene:81315, RefSeq DNA:NG_004235, RefSeq DNA:NT_035158 No chr11 51435460 51436404 54682876 54683820 +PA32249 390137 HGNC:15166 ENSG00000254891 olfactory receptor, family 4, subfamily A, member 9 pseudogene OR4A9P Yes No Ensembl:ENSG00000254891, GenAtlas:OR4A9P, GeneCard:OR4A9P, HGNC:HGNC:15166, NCBI Gene:390137, RefSeq DNA:NG_004333, RefSeq DNA:NT_167190 No chr11 55156006 55156949 55388530 55389473 +PA32250 119765 HGNC:8290 ENSG00000175619 olfactory receptor family 4 subfamily B member 1 OR4B1 olfactory receptor, family 4, subfamily B, member 1 OST208 Yes No Ensembl:ENSG00000175619, GenAtlas:OR4B1, GeneCard:OR4B1, HGNC:HGNC:8290, ModBase:Q8NGF8, NCBI Gene:119765, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005470, RefSeq RNA:NM_001005470, UniProtKB:Q8NGF8 No chr11 48238362 48239291 48216810 48217739 +PA32251 26690 HGNC:8291 ENSG00000255514 olfactory receptor, family 4, subfamily B, member 2 pseudogene OR4B2P hg449 Yes No Ensembl:ENSG00000255514, GenAtlas:OR4B2P, GeneCard:OR4B2P, HGNC:HGNC:8291, NCBI Gene:26690, RefSeq DNA:NG_004136, RefSeq DNA:NT_009237 No chr11 48248982 48249884 48227430 48228332 +PA32252 79526 HGNC:14800 ENSG00000184789 olfactory receptor, family 4, subfamily C, member 10 pseudogene OR4C10P Yes No Ensembl:ENSG00000184789, GenAtlas:OR4C10P, GeneCard:OR4C10P, HGNC:HGNC:14800, NCBI Gene:79526, RefSeq DNA:NG_002264, RefSeq DNA:NT_009237 No chr11 48453769 48454699 48432217 48433147 +PA32253 219429 HGNC:15167 ENSG00000172188 olfactory receptor family 4 subfamily C member 11 OR4C11 olfactory receptor, family 4, subfamily C, member 11 OR4C11P Yes No Ensembl:ENSG00000172188, GenAtlas:OR4C11, GeneCard:OR4C11, HGNC:HGNC:15167, ModBase:Q6IEV9, NCBI Gene:219429, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004700, RefSeq RNA:NM_001004700, UniProtKB:Q6IEV9 No chr11 55370830 55371874 55603354 55604398 +PA32254 283093 HGNC:15168 ENSG00000221954 olfactory receptor family 4 subfamily C member 12 OR4C12 olfactory receptor, family 4, subfamily C, member 12 Yes No Ensembl:ENSG00000221954, GenAtlas:OR4C12, GeneCard:OR4C12, HGNC:HGNC:15168, ModBase:Q96R67, NCBI Gene:283093, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005270, RefSeq RNA:NM_001005270, UniProtKB:Q96R67 No chr11 50003009 50004071 49981473 49982535 +PA32255 283092 HGNC:15169 ENSG00000258817 olfactory receptor family 4 subfamily C member 13 OR4C13 olfactory receptor, family 4, subfamily C, member 13 Yes No Ensembl:ENSG00000258817, GenAtlas:OR4C13, GeneCard:OR4C13, HGNC:HGNC:15169, ModBase:Q8NGP0, NCBI Gene:283092, RefSeq DNA:NT_009237, RefSeq Protein:NP_001001955, RefSeq RNA:NM_001001955, UniProtKB:Q8NGP0 No chr11 49973943 49974971 49952391 49953419 +PA32256 81310 HGNC:15170 ENSG00000233301 olfactory receptor, family 4, subfamily C, member 14 pseudogene OR4C14P Yes No Ensembl:ENSG00000233301, GenAtlas:OR4C14P, GeneCard:OR4C14P, HGNC:HGNC:15170, NCBI Gene:81310, RefSeq DNA:NG_004234, RefSeq DNA:NT_167190 No chr11 55304479 55305401 55537003 55537925 +PA32257 81309 HGNC:15171 ENSG00000181939 olfactory receptor family 4 subfamily C member 15 OR4C15 olfactory receptor, family 4, subfamily C, member 15 Yes No Ensembl:ENSG00000181939, GenAtlas:OR4C15, GeneCard:OR4C15, HGNC:HGNC:15171, ModBase:Q8NGM1, NCBI Gene:81309, RefSeq DNA:NT_167190, RefSeq Protein:NP_001001920, RefSeq RNA:NM_001001920 No chr11 55321783 55322895 55554307 55555419 +PA32258 219428 HGNC:15172 ENSG00000279514 olfactory receptor family 4 subfamily C member 16 OR4C16 """olfactory receptor family 4 subfamily C member 16 (gene/pseudogene)"", ""olfactory receptor, family 4, subfamily C, member 16"", ""olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)""" Yes No Ensembl:ENSG00000279514, GenAtlas:OR4C16, GeneCard:OR4C16, HGNC:HGNC:15172, ModBase:Q8NGL9, NCBI Gene:219428, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004701, RefSeq RNA:NM_001004701, UniProtKB:Q8NGL9 No chr11 55339604 55340536 55572128 55573060 +PA32259 26242 HGNC:8292 ENSG00000254576 olfactory receptor, family 4, subfamily C, member 1 pseudogene OR4C1P HSHTPCRX11, HTPCRX11 Yes No Ensembl:ENSG00000254576, GenAtlas:OR4C1P, GeneCard:OR4C1P, HGNC:HGNC:8292, NCBI Gene:26242, RefSeq DNA:NG_002184, RefSeq DNA:NT_167190 No chr11 55277114 55278238 55509638 55510762 +PA32260 119750 HGNC:14696 ENSG00000182565 olfactory receptor, family 4, subfamily C, member 2 pseudogene OR4C2P Yes No Ensembl:ENSG00000182565, GenAtlas:OR4C2P, GeneCard:OR4C2P, HGNC:HGNC:14696, NCBI Gene:119750, RefSeq DNA:NG_002250, RefSeq DNA:NT_009237 No chr11 48441595 48442631 48420043 48421079 +PA32261 256144 HGNC:14697 ENSG00000176547 olfactory receptor family 4 subfamily C member 3 OR4C3 olfactory receptor, family 4, subfamily C, member 3 Yes No Ensembl:ENSG00000176547, GenAtlas:OR4C3, GeneCard:OR4C3, HGNC:HGNC:14697, ModBase:Q8NH37, NCBI Gene:256144, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004702, RefSeq RNA:NM_001004702, UniProtKB:Q8NH37 No chr11 48346493 48347482 48324941 48325930 +PA134868716 403257 HGNC:31270 ENSG00000260811 olfactory receptor family 4 subfamily C member 45 (gene/pseudogene) OR4C45 olfactory receptor, family 4, subfamily C, member 45 Yes No Ensembl:ENSG00000260811, GeneCard:OR4C45, HGNC:HGNC:31270, ModBase:A6NMZ5, NCBI Gene:403257, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005513, RefSeq RNA:NM_001005513 No chr11 191765 192685 50032874 50033794 +PA134910149 119749 HGNC:31271 ENSG00000185926 olfactory receptor family 4 subfamily C member 46 OR4C46 olfactory receptor, family 4, subfamily C, member 46 Yes No Ensembl:ENSG00000185926, GeneCard:OR4C46, HGNC:HGNC:31271, ModBase:A6NHA9, NCBI Gene:119749, RefSeq DNA:NT_035158, RefSeq Protein:NP_001004703, RefSeq RNA:NM_001004703, UniProtKB:A6NHA9 No chr11 51515282 51516211 54603069 54603998 +PA134893408 403259 HGNC:31272 ENSG00000283605 olfactory receptor, family 4, subfamily C, member 48 pseudogene OR4C48P Yes No Ensembl:ENSG00000283605, GeneCard:OR4C48P, HGNC:HGNC:31272, NCBI Gene:403259, RefSeq DNA:NG_004421 No chr11 177666 178590 50018789 50019713 +PA134928442 403260 HGNC:31273 ENSG00000260595 olfactory receptor, family 4, subfamily C, member 49 pseudogene OR4C49P Yes No Ensembl:ENSG00000260595, GeneCard:OR4C49P, HGNC:HGNC:31273, NCBI Gene:403260, RefSeq DNA:NG_004422 No chr11 212303 213199 50053412 50054308 +PA32262 79550 HGNC:14700 ENSG00000197161 olfactory receptor, family 4, subfamily C, member 4 pseudogene OR4C4P OR4C17P, OR4C47P Yes No Ensembl:ENSG00000197161, GenAtlas:OR4C4P, GeneCard:OR4C4P, HGNC:HGNC:14700, NCBI Gene:79550, RefSeq DNA:NG_002275, RefSeq DNA:NT_009237 No chr11 48366900 48373999 48345348 48352447 +PA32263 79346 HGNC:14702 ENSG00000176540 olfactory receptor family 4 subfamily C member 5 OR4C5 """olfactory receptor family 4 subfamily C member 5 (gene/pseudogene)"", ""olfactory receptor, family 4, subfamily C, member 5"", ""olfactory receptor, family 4, subfamily C, member 5 (gene/pseudogene)""" OR4C5P, OR4C5Q Yes No Ensembl:ENSG00000176540, GenAtlas:OR4C5, GeneCard:OR4C5, HGNC:HGNC:14702, ModBase:Q8NGB2, NCBI Gene:79346, RefSeq DNA:NG_002247, RefSeq DNA:NT_009237 No chr11 48386949 48387940 48365397 48366388 +PA134946072 256190 HGNC:31274 ENSG00000237610 olfactory receptor, family 4, subfamily C, member 50 pseudogene OR4C50P Yes No Ensembl:ENSG00000237610, GeneCard:OR4C50P, HGNC:HGNC:31274, NCBI Gene:256190, RefSeq DNA:NG_004295, RefSeq DNA:NT_035158 No chr11 51526874 51527800 54591480 54592406 +PA32264 219432 HGNC:14743 ENSG00000181903 olfactory receptor family 4 subfamily C member 6 OR4C6 olfactory receptor, family 4, subfamily C, member 6 Yes No Ensembl:ENSG00000181903, GenAtlas:OR4C6, GeneCard:OR4C6, HGNC:HGNC:14743, ModBase:Q8NH72, NCBI Gene:219432, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004704, RefSeq RNA:NM_001004704, UniProtKB:Q8NH72 No chr11 55432643 55433572 55665167 55666096 +PA32265 79294 HGNC:14768 ENSG00000255312 olfactory receptor, family 4, subfamily C, member 7 pseudogene OR4C7P Yes No Ensembl:ENSG00000255312, GenAtlas:OR4C7P, GeneCard:OR4C7P, HGNC:HGNC:14768, NCBI Gene:79294, RefSeq DNA:NG_002229, RefSeq DNA:NT_035158 No chr11 51483227 51484351 54634929 54636053 +PA32266 79530 HGNC:14796 ENSG00000254925 olfactory receptor, family 4, subfamily C, member 9 pseudogene OR4C9P Yes No Ensembl:ENSG00000254925, GenAtlas:OR4C9P, GeneCard:OR4C9P, HGNC:HGNC:14796, NCBI Gene:79530, RefSeq DNA:NG_002267, RefSeq DNA:NT_009237 No chr11 48485605 48486529 48464053 48464977 +PA32267 26689 HGNC:8293 ENSG00000141194 olfactory receptor family 4 subfamily D member 1 OR4D1 olfactory receptor, family 4, subfamily D, member 1 OR4D3, TPCR16 Yes No Ensembl:ENSG00000141194, GenAtlas:OR4D1, GeneCard:OR4D1, HGNC:HGNC:8293, HumanCyc Gene:HS06806, ModBase:Q15615, NCBI Gene:26689, RefSeq DNA:NT_010783, RefSeq Protein:NP_036506, RefSeq RNA:NM_012374, UniProtKB:Q15615 No chr17 56232515 56233447 58155154 58156086 +PA32268 390197 HGNC:15173 ENSG00000254466 olfactory receptor family 4 subfamily D member 10 OR4D10 olfactory receptor, family 4, subfamily D, member 10 OR4D10P, OST711 Yes No Ensembl:ENSG00000254466, GenAtlas:OR4D10, GeneCard:OR4D10, HGNC:HGNC:15173, ModBase:Q8NGI6, NCBI Gene:390197, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004705, RefSeq RNA:NM_001004705, UniProtKB:Q8NGI6 No chr11 59244903 59245838 59477430 59478365 +PA32269 219986 HGNC:15174 ENSG00000176200 olfactory receptor family 4 subfamily D member 11 OR4D11 olfactory receptor, family 4, subfamily D, member 11 OR4D11P Yes No Ensembl:ENSG00000176200, GenAtlas:OR4D11, GeneCard:OR4D11, HGNC:HGNC:15174, ModBase:Q8NGI4, NCBI Gene:219986, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004706, RefSeq RNA:NM_001004706, UniProtKB:Q8NGI4 No chr11 59271049 59271984 59503576 59504511 +PA32270 124538 HGNC:8294 ENSG00000255713 olfactory receptor family 4 subfamily D member 2 OR4D2 olfactory receptor, family 4, subfamily D, member 2 Yes No Ensembl:ENSG00000255713, GenAtlas:OR4D2, GeneCard:OR4D2, HGNC:HGNC:8294, ModBase:P58180, NCBI Gene:124538, RefSeq DNA:NT_010783, RefSeq Protein:NP_001004707, RefSeq RNA:NM_001004707, UniProtKB:P58180 No chr17 56247017 56247940 58169656 58170579 +PA32272 219875 HGNC:14852 ENSG00000171014 olfactory receptor family 4 subfamily D member 5 OR4D5 olfactory receptor, family 4, subfamily D, member 5 Yes No Ensembl:ENSG00000171014, GenAtlas:OR4D5, GeneCard:OR4D5, HGNC:HGNC:14852, ModBase:Q8NGN0, NCBI Gene:219875, RefSeq DNA:NT_033899, RefSeq Protein:NP_001001965, RefSeq RNA:NM_001001965, UniProtKB:Q8NGN0 No chr11 123810324 123811280 123939617 123940573 +PA32273 219983 HGNC:15175 ENSG00000166884 olfactory receptor family 4 subfamily D member 6 OR4D6 olfactory receptor, family 4, subfamily D, member 6 Yes Yes Ensembl:ENSG00000166884, GenAtlas:OR4D6, GeneCard:OR4D6, HGNC:HGNC:15175, ModBase:Q8NGJ1, NCBI Gene:219983, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004708, RefSeq RNA:NM_001004708, UniProtKB:Q8NGJ1 No chr11 59224434 59225378 59456961 59457905 +PA32274 81304 HGNC:15176 ENSG00000254770 olfactory receptor, family 4, subfamily D, member 7 pseudogene OR4D7P OST724 Yes No Ensembl:ENSG00000254770, GenAtlas:OR4D7P, GeneCard:OR4D7P, HGNC:HGNC:15176, NCBI Gene:81304, RefSeq DNA:NG_004233, RefSeq DNA:NT_167190 No chr11 59299171 59300184 59531698 59532711 +PA32275 401696 HGNC:15177 ENSG00000204989 olfactory receptor, family 4, subfamily D, member 8 pseudogene OR4D8P Yes No Ensembl:ENSG00000204989, GenAtlas:OR4D8P, GeneCard:OR4D8P, HGNC:HGNC:15177, NCBI Gene:401696, RefSeq DNA:NG_004232, RefSeq DNA:NT_167190 No chr11 59259126 59260084 59491653 59492611 +PA32276 390199 HGNC:15178 ENSG00000172742 olfactory receptor family 4 subfamily D member 9 OR4D9 olfactory receptor, family 4, subfamily D, member 9 Yes No Ensembl:ENSG00000172742, GenAtlas:OR4D9, GeneCard:OR4D9, HGNC:HGNC:15178, ModBase:Q8NGE8, NCBI Gene:390199, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004711, RefSeq RNA:NM_001004711, UniProtKB:Q8NGE8 No chr11 59282386 59283330 59514913 59515857 +PA32277 26687 HGNC:8296 ENSG00000276240 olfactory receptor family 4 subfamily E member 1 OR4E1 """olfactory receptor family 4 subfamily E member 1 (gene/pseudogene)"", ""olfactory receptor, family 4, subfamily E, member 1 (gene/pseudogene)""" OR4E1P Yes No Ensembl:ENSG00000276240, GenAtlas:OR4E1P, GeneCard:OR4E1, HGNC:HGNC:8296, NCBI Gene:26687, RefSeq DNA:NG_001332 No chr14 22138104 22139250 21669912 21671017 +PA32278 26686 HGNC:8297 ENSG00000221977 olfactory receptor family 4 subfamily E member 2 OR4E2 olfactory receptor, family 4, subfamily E, member 2 Yes No Ensembl:ENSG00000221977, GenAtlas:OR4E2, GeneCard:OR4E2, HGNC:HGNC:8297, ModBase:Q8NGC2, NCBI Gene:26686, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437, RefSeq Protein:NP_001001912, RefSeq RNA:NM_001001912, UniProtKB:Q8NGC2 No chr14 22133297 22134238 21665083 21666024 +PA32281 390651 HGNC:15076 ENSG00000214344 olfactory receptor, family 4, subfamily F, member 13 pseudogene OR4F13P Yes No Ensembl:ENSG00000214344, GenAtlas:OR4F13P, GeneCard:OR4F13P, HGNC:HGNC:15076, NCBI Gene:390651, RefSeq DNA:NG_004357, RefSeq DNA:NT_010274, RefSeq Protein:NP_001181950, RefSeq RNA:NM_001195021 No chr15 102382322 102390527 101842119 101850324 +PA32282 390650 HGNC:15077 ENSG00000232459 olfactory receptor, family 4, subfamily F, member 14 pseudogene OR4F14P Yes No Ensembl:ENSG00000232459, GenAtlas:OR4F14P, GeneCard:OR4F14P, HGNC:HGNC:15077, NCBI Gene:390650, RefSeq DNA:NG_004356, RefSeq DNA:NT_010274 No chr15 102368944 102369879 101828741 101829676 +PA32283 390649 HGNC:15078 ENSG00000182854 olfactory receptor family 4 subfamily F member 15 OR4F15 olfactory receptor, family 4, subfamily F, member 15 Yes No Ensembl:ENSG00000182854, GenAtlas:OR4F15, GeneCard:OR4F15, HGNC:HGNC:15078, ModBase:Q8NGB8, NCBI Gene:390649, RefSeq DNA:NT_010274, RefSeq Protein:NP_001001674, RefSeq RNA:NM_001001674, UniProtKB:Q8NGB8 No chr15 102358390 102359328 101818187 101819125 +PA32284 81399 HGNC:15079 ENSG00000185097, ENSG00000230178, ENSG00000235249 olfactory receptor family 4 subfamily F member 16 OR4F16 olfactory receptor, family 4, subfamily F, member 16 Yes No Ensembl:ENSG00000185097, Ensembl:ENSG00000230178, Ensembl:ENSG00000235249, GenAtlas:OR4F16, GeneCard:OR4F16, HGNC:HGNC:15079, NCBI Gene:81399, RefSeq DNA:NT_004350, RefSeq Protein:NP_001005277, RefSeq RNA:NM_001005277, UniProtKB:Q6IEY1 No chr1 621096 622034 683910 720118 +PA32285 81099 HGNC:15381 ENSG00000176695 olfactory receptor family 4 subfamily F member 17 OR4F17 olfactory receptor, family 4, subfamily F, member 17 OR4F11P, OR4F18, OR4F19 Yes No Ensembl:ENSG00000176695, GenAtlas:OR4F17, GeneCard:OR4F17, HGNC:HGNC:15381, ModBase:Q8NGA8, NCBI Gene:81099, RefSeq DNA:NT_011255, RefSeq Protein:NP_001005240, RefSeq RNA:NM_001005240, UniProtKB:Q8NGA8 No chr19 107152 111690 107152 111690 +PA32287 26685 HGNC:8298 ENSG00000220212 olfactory receptor, family 4, subfamily F, member 1 pseudogene OR4F1P HSDJ0609N19 Yes No Ensembl:ENSG00000220212, GenAtlas:OR4F1P, GeneCard:OR4F1P, HGNC:HGNC:8298, NCBI Gene:26685, RefSeq DNA:NG_004134, RefSeq DNA:NT_007592 No chr6 105919 106856 105919 106856 +PA134918173 441308 HGNC:19583 ENSG00000176269 olfactory receptor family 4 subfamily F member 21 OR4F21 olfactory receptor, family 4, subfamily F, member 21 OR4F21P Yes No Ensembl:ENSG00000176269, GeneCard:OR4F21, HGNC:HGNC:19583, NCBI Gene:441308, RefSeq DNA:NT_023736, RefSeq Protein:NP_001005504, RefSeq RNA:NM_001005504, UniProtKB:O95013 No chr8 116086 117024 166086 167024 +PA134937228 390652 HGNC:31229 ENSG00000257109 olfactory receptor, family 4, subfamily F, member 28 pseudogene OR4F28P Yes No Ensembl:ENSG00000257109, GeneCard:OR4F28P, HGNC:HGNC:31229, NCBI Gene:390652, RefSeq DNA:NG_004358, RefSeq DNA:NT_010274 No chr15 102416167 102417104 101875964 101876901 +PA134963748 729759 HGNC:31275 ENSG00000284733 olfactory receptor family 4 subfamily F member 29 OR4F29 olfactory receptor, family 4, subfamily F, member 29 Yes No Ensembl:ENSG00000284733, GeneCard:OR4F29, HGNC:HGNC:31275, NCBI Gene:729759, RefSeq DNA:NT_077912, RefSeq Protein:NP_001005221, RefSeq RNA:NM_001005221 No chr1 367659 368597 450740 451678 +PA32288 390028 HGNC:8299 ENSG00000224777 olfactory receptor, family 4, subfamily F, member 2 pseudogene OR4F2P OR4F2, S191N21, hs6M1-11 Yes No Ensembl:ENSG00000224777, GenAtlas:OR4F2P, GeneCard:OR4F2P, HGNC:HGNC:8299, NCBI Gene:390028, RefSeq DNA:NG_004259, RefSeq DNA:NT_009237 No chr11 86649 87586 86649 87586 +PA32289 26683 HGNC:8300 ENSG00000185097, ENSG00000230178, ENSG00000235249 olfactory receptor family 4 subfamily F member 3 OR4F3 olfactory receptor, family 4, subfamily F, member 3 Yes No Ensembl:ENSG00000185097, Ensembl:ENSG00000230178, Ensembl:ENSG00000235249, GenAtlas:OR4F3, GeneCard:OR4F3, HGNC:HGNC:8300, NCBI Gene:26683, RefSeq DNA:NT_023133, RefSeq Protein:NP_001005224, RefSeq RNA:NM_001005224 No chr5 180794288 180795226 181342142 181370030 +PA32290 26682 HGNC:8301 ENSG00000177693, ENSG00000186092 olfactory receptor family 4 subfamily F member 4 OR4F4 olfactory receptor, family 4, subfamily F, member 4 OR4F18 Yes No Ensembl:ENSG00000177693, Ensembl:ENSG00000186092, GenAtlas:OR4F4, GeneCard:OR4F4, HGNC:HGNC:8301, ModBase:Q96R69, NCBI Gene:26682, RefSeq DNA:NT_010274, RefSeq Protein:NP_001004195, RefSeq RNA:NM_001004195, UniProtKB:Q96R69 No chr15 102462345 102463262 101922142 101923059 +PA32291 79501 HGNC:14825 ENSG00000186092 olfactory receptor family 4 subfamily F member 5 OR4F5 olfactory receptor, family 4, subfamily F, member 5 Yes No Ensembl:ENSG00000186092, GenAtlas:OR4F5, GeneCard:OR4F5, HGNC:HGNC:14825, ModBase:Q8NH21, NCBI Gene:79501, RefSeq DNA:NT_077402, RefSeq Protein:NP_001005484, RefSeq RNA:NM_001005484, UniProtKB:Q8NH21 No chr1 69091 70008 69091 70008 +PA32292 390648 HGNC:15372 ENSG00000184140 olfactory receptor family 4 subfamily F member 6 OR4F6 olfactory receptor, family 4, subfamily F, member 6 OR4F12 Yes No Ensembl:ENSG00000184140, GenAtlas:OR4F6, GeneCard:OR4F6, HGNC:HGNC:15372, ModBase:Q8NGB9, NCBI Gene:390648, RefSeq DNA:NT_010274, RefSeq Protein:NP_001005326, RefSeq RNA:NM_001005326, UniProtKB:Q8NGB9 No chr15 102345923 102346861 101805720 101806658 +PA32293 81390 HGNC:15089 ENSG00000217874 olfactory receptor, family 4, subfamily F, member 7 pseudogene OR4F7P Yes No Ensembl:ENSG00000217874, GenAtlas:OR4F7P, GeneCard:OR4F7P, HGNC:HGNC:15089, NCBI Gene:81390, RefSeq DNA:NG_004682, RefSeq DNA:NT_025741 No chr6 170948694 170949631 170639606 170640543 +PA32294 390872 HGNC:15395 ENSG00000266971 olfactory receptor, family 4, subfamily F, member 8 pseudogene OR4F8P Yes No Ensembl:ENSG00000266971, GenAtlas:OR4F8P, GeneCard:OR4F8P, HGNC:HGNC:15395, NCBI Gene:390872, RefSeq DNA:NG_004359, RefSeq DNA:NT_011255 No chr19 156282 157216 156282 157216 +PA134901419 403263 HGNC:31276 ENSG00000240361 olfactory receptor, family 4, subfamily G, member 11 pseudogene OR4G11P Yes No Ensembl:ENSG00000240361, GeneCard:OR4G11P, HGNC:HGNC:31276, NCBI Gene:403263, RefSeq DNA:NG_004423, RefSeq DNA:NT_077402 No chr1 63016 63885 63016 63885 +PA32296 26681 HGNC:8302 ENSG00000267310 olfactory receptor, family 4, subfamily G, member 1 pseudogene OR4G1P OLB Yes No Ensembl:ENSG00000267310, GenAtlas:OR4G1P, GeneCard:OR4G1P, HGNC:HGNC:8302, NCBI Gene:26681, RefSeq DNA:NG_004133, RefSeq DNA:NT_011255 No chr19 104602 105470 104602 105470 +PA32297 26680 HGNC:8303 ENSG00000183909 olfactory receptor, family 4, subfamily G, member 2 pseudogene OR4G2P Yes No Ensembl:ENSG00000183909, GenAtlas:OR4G2P, GeneCard:OR4G2P, HGNC:HGNC:8303, NCBI Gene:26680, RefSeq DNA:NG_003201, RefSeq DNA:NT_010274 No chr15 102466830 102467506 101926627 101927303 +PA32298 26679 HGNC:8304 ENSG00000282137 olfactory receptor, family 4, subfamily G, member 3 pseudogene OR4G3P OLC, OLC-7501 Yes No Ensembl:ENSG00000282137, GenAtlas:OR4G3P, GeneCard:OR4G3P, HGNC:HGNC:8304, NCBI Gene:26679, RefSeq DNA:NG_003222, RefSeq DNA:NT_011255 No chr19 94077 94940 94077 94940 +PA32299 79504 HGNC:14822 ENSG00000268020 olfactory receptor, family 4, subfamily G, member 4 pseudogene OR4G4P Yes No Ensembl:ENSG00000268020, GenAtlas:OR4G4P, GeneCard:OR4G4P, HGNC:HGNC:14822, NCBI Gene:79504, RefSeq DNA:NG_004148, RefSeq DNA:NT_077402 No chr1 52453 53396 52453 53396 +PA32301 81438 HGNC:15039 ENSG00000275771 olfactory receptor, family 4, subfamily G, member 6 pseudogene OR4G6P Yes No Ensembl:ENSG00000275771, GenAtlas:OR4G6P, GeneCard:OR4G6P, HGNC:HGNC:15039, NCBI Gene:81438, RefSeq DNA:NG_004268, RefSeq DNA:NT_010274 No chr15 102477752 102478695 101937549 101938492 +PA134865110 161271 HGNC:19433 ENSG00000176312 olfactory receptor, family 4, subfamily H, member 12 pseudogene OR4H12P C14orf14 Yes No Ensembl:ENSG00000176312, GeneCard:OR4H12P, HGNC:HGNC:19433, HumanCyc Gene:HS11038, NCBI Gene:161271, RefSeq DNA:NG_004089, RefSeq DNA:NT_026437 No chr14 20228069 20228947 19759910 19760788 +PA32306 26322 HGNC:8312 ENSG00000284892 olfactory receptor, family 4, subfamily H, member 6 pseudogene OR4H6P OR14-58, OR15-69, OR15-71, OR15-80, OR15-81, OR15-82, OR4-114, OR4-115, OR4-119, OR4H6, OR4H8P, OR4H9, OR5-39, OR5-84 Yes No Ensembl:ENSG00000284892, GenAtlas:OR4H6P, GeneCard:OR4H6P, HGNC:HGNC:8312, NCBI Gene:26322, RefSeq DNA:NG_002307, RefSeq DNA:NT_077631 No chr15 22344854 22345489 22056903 22057538 +PA32308 79544 HGNC:14726 ENSG00000155249 olfactory receptor family 4 subfamily K member 1 OR4K1 olfactory receptor, family 4, subfamily K, member 1 Yes No Ensembl:ENSG00000155249, GenAtlas:OR4K1, GeneCard:OR4K1, HGNC:HGNC:14726, ModBase:Q8NGD4, NCBI Gene:79544, RefSeq DNA:NT_026437, RefSeq Protein:NP_001004063, RefSeq RNA:NM_001004063, UniProtKB:Q8NGD4 No chr14 20403767 20404842 19920263 19936736 +PA32310 81079 HGNC:15402 ENSG00000179381 olfactory receptor, family 4, subfamily K, member 11 pseudogene OR4K11P OR21-1 Yes No Ensembl:ENSG00000179381, GenAtlas:OR4K11P, GeneCard:OR4K11P, HGNC:HGNC:15402, NCBI Gene:81079, RefSeq DNA:NG_004161, RefSeq DNA:NT_011512 No chr21 14916552 14917506 13544231 13545185 +PA32311 81078 HGNC:15403 ENSG00000218549 olfactory receptor, family 4, subfamily K, member 12 pseudogene OR4K12P OR21-2 Yes No Ensembl:ENSG00000218549, GenAtlas:OR4K12P, GeneCard:OR4K12P, HGNC:HGNC:15403, NCBI Gene:81078, RefSeq DNA:NG_004160, RefSeq DNA:NT_011512 No chr21 14953393 14954325 13581072 13582004 +PA32312 390433 HGNC:15351 ENSG00000176253 olfactory receptor family 4 subfamily K member 13 OR4K13 olfactory receptor, family 4, subfamily K, member 13 Yes No Ensembl:ENSG00000176253, GenAtlas:OR4K13, GeneCard:OR4K13, HGNC:HGNC:15351, ModBase:Q8NH42, NCBI Gene:390433, RefSeq DNA:NT_026437, RefSeq Protein:NP_001004714, RefSeq RNA:NM_001004714, UniProtKB:Q8NH42 No chr14 20502003 20502917 20033844 20034758 +PA32313 122740 HGNC:15352 ENSG00000169484 olfactory receptor family 4 subfamily K member 14 OR4K14 olfactory receptor, family 4, subfamily K, member 14 Yes No Ensembl:ENSG00000169484, GenAtlas:OR4K14, GeneCard:OR4K14, HGNC:HGNC:15352, ModBase:Q8NGD5, NCBI Gene:122740, RefSeq DNA:NT_026437, RefSeq Protein:NP_001004712, RefSeq RNA:NM_001004712, UniProtKB:Q8NGD5 No chr14 20482420 20483352 20014261 20015193 +PA32314 81127 HGNC:15353 ENSG00000169488 olfactory receptor family 4 subfamily K member 15 OR4K15 olfactory receptor, family 4, subfamily K, member 15 OR4K15Q Yes No Ensembl:ENSG00000169488, GenAtlas:OR4K15, GeneCard:OR4K15, HGNC:HGNC:15353, ModBase:Q8NH41, NCBI Gene:81127, RefSeq DNA:NT_026437, RefSeq Protein:NP_001005486, RefSeq RNA:NM_001005486, UniProtKB:Q8NH41 No chr14 20443678 20444724 19975519 19976565 +PA32315 81126 HGNC:15354 ENSG00000258822 olfactory receptor, family 4, subfamily K, member 16 pseudogene OR4K16P Yes No Ensembl:ENSG00000258822, GenAtlas:OR4K16P, GeneCard:OR4K16P, HGNC:HGNC:15354, NCBI Gene:81126, RefSeq DNA:NG_004172, RefSeq DNA:NT_026437 No chr14 20424706 20425713 19956547 19957554 +PA32316 390436 HGNC:15355 ENSG00000176230 olfactory receptor family 4 subfamily K member 17 OR4K17 olfactory receptor, family 4, subfamily K, member 17 Yes No Ensembl:ENSG00000176230, GenAtlas:OR4K17, GeneCard:OR4K17, HGNC:HGNC:15355, ModBase:Q8NGC6, NCBI Gene:390436, RefSeq DNA:NT_026437, RefSeq Protein:NP_001004715, RefSeq RNA:NM_001004715 No chr14 20585566 20586597 20117407 20118438 +PA32317 390431 HGNC:14728 ENSG00000165762 olfactory receptor family 4 subfamily K member 2 OR4K2 olfactory receptor, family 4, subfamily K, member 2 Yes No Ensembl:ENSG00000165762, GenAtlas:OR4K2, GeneCard:OR4K2, HGNC:HGNC:14728, ModBase:Q8NGD2, NCBI Gene:390431, RefSeq DNA:NT_026437, RefSeq Protein:NP_001005501, RefSeq RNA:NM_001005501, UniProtKB:Q8NGD2 No chr14 20344427 20345371 19876268 19877212 +PA32318 283617 HGNC:14731 ENSG00000176290 olfactory receptor family 4 subfamily K member 3 (gene/pseudogene) OR4K3 olfactory receptor, family 4, subfamily K, member 3 (gene/pseudogene) OR4K3P Yes No Ensembl:ENSG00000176290, GenAtlas:OR4K3P, GeneCard:OR4K3, HGNC:HGNC:14731, ModBase:Q96R72, NCBI Gene:283617, RefSeq DNA:NG_003198, RefSeq DNA:NT_026437, UniProtKB:Q96R72 No chr14 20336156 20337502 19867997 19869343 +PA32319 79318 HGNC:14744 ENSG00000258541 olfactory receptor, family 4, subfamily K, member 4 pseudogene OR4K4P Yes No Ensembl:ENSG00000258541, GenAtlas:OR4K4P, GeneCard:OR4K4P, HGNC:HGNC:14744, NCBI Gene:79318, RefSeq DNA:NG_002242, RefSeq DNA:NT_026437 No chr14 20373871 20374803 19905712 19906644 +PA32320 79317 HGNC:14745 ENSG00000176281 olfactory receptor family 4 subfamily K member 5 OR4K5 olfactory receptor, family 4, subfamily K, member 5 Yes No Ensembl:ENSG00000176281, GenAtlas:OR4K5, GeneCard:OR4K5, HGNC:HGNC:14745, ModBase:Q8NGD3, NCBI Gene:79317, RefSeq DNA:NT_026437, RefSeq Protein:NP_001005483, RefSeq RNA:NM_001005483, UniProtKB:Q8NGD3 No chr14 20388766 20389737 19920607 19921578 +PA32321 79314 HGNC:14748 ENSG00000228304 olfactory receptor, family 4, subfamily K, member 6 pseudogene OR4K6P Yes No Ensembl:ENSG00000228304, GenAtlas:OR4K6P, GeneCard:OR4K6P, HGNC:HGNC:14748, NCBI Gene:79314, RefSeq DNA:NG_002240, RefSeq DNA:NT_026437 No chr14 20315426 20316488 19847267 19848329 +PA32322 79306 HGNC:14756 ENSG00000265340 olfactory receptor, family 4, subfamily K, member 7 pseudogene OR4K7P Yes No Ensembl:ENSG00000265340, GenAtlas:OR4K7P, GeneCard:OR4K7P, HGNC:HGNC:14756, NCBI Gene:79306, RefSeq DNA:NG_002235, RefSeq DNA:NT_010859 No chr18 14570743 14571715 14570744 14571716 +PA32323 390836 HGNC:14787 ENSG00000266693 olfactory receptor, family 4, subfamily K, member 8 pseudogene OR4K8P Yes No Ensembl:ENSG00000266693, GenAtlas:OR4K8P, GeneCard:OR4K8P, HGNC:HGNC:14787, NCBI Gene:390836, RefSeq DNA:NG_002222, RefSeq DNA:NT_010859 No chr18 14613209 14614180 14613210 14614181 +PA32325 122742 HGNC:15356 ENSG00000176246 olfactory receptor family 4 subfamily L member 1 OR4L1 olfactory receptor, family 4, subfamily L, member 1 OR4L2P Yes No Ensembl:ENSG00000176246, GenAtlas:OR4L1, GeneCard:OR4L1, HGNC:HGNC:15356, ModBase:Q8NH43, NCBI Gene:122742, RefSeq DNA:NT_026437, RefSeq Protein:NP_001004717, RefSeq RNA:NM_001004717, UniProtKB:Q8NH43 No chr14 20528204 20529142 20060045 20060983 +PA32327 441670 HGNC:14735 ENSG00000176299 olfactory receptor family 4 subfamily M member 1 OR4M1 olfactory receptor, family 4, subfamily M, member 1 Yes No Ensembl:ENSG00000176299, GenAtlas:OR4M1, GeneCard:OR4M1, HGNC:HGNC:14735, ModBase:Q8NGD0, NCBI Gene:441670, RefSeq DNA:NT_026437, RefSeq Protein:NP_001005500, RefSeq RNA:NM_001005500, UniProtKB:Q8NGD0 No chr14 20248482 20249423 19779664 19783111 +PA32328 390538 HGNC:15373 ENSG00000274102 olfactory receptor family 4 subfamily M member 2 OR4M2 olfactory receptor, family 4, subfamily M, member 2 Yes No Ensembl:ENSG00000274102, GenAtlas:OR4M2, GeneCard:OR4M2, HGNC:HGNC:15373, ModBase:Q8NGB6, NCBI Gene:390538, RefSeq DNA:NT_077631, RefSeq Protein:NP_001004719, RefSeq RNA:NM_001004719, UniProtKB:Q8NGB6 No chr15 22368478 22369561 22080527 22081610 +PA166351998 118568804 HGNC:55109 olfactory receptor family 4 subfamily M member 2B OR4M2B Yes No HGNC:HGNC:55109, NCBI Gene:118568804 No 0 0 0 0 +PA32329 79322 HGNC:14740 ENSG00000258564 olfactory receptor, family 4, subfamily N, member 1 pseudogene OR4N1P Yes No Ensembl:ENSG00000258564, GenAtlas:OR4N1P, GeneCard:OR4N1P, HGNC:HGNC:14740, NCBI Gene:79322, RefSeq DNA:NG_002243, RefSeq DNA:NT_026437 No chr14 20264504 20265477 19796254 19797418 +PA32330 390429 HGNC:14742 ENSG00000176294 olfactory receptor family 4 subfamily N member 2 OR4N2 olfactory receptor, family 4, subfamily N, member 2 Yes No Ensembl:ENSG00000176294, GenAtlas:OR4N2, GeneCard:OR4N2, HGNC:HGNC:14742, ModBase:Q8NGD1, NCBI Gene:390429, RefSeq DNA:NT_026437, RefSeq Protein:NP_001004723, RefSeq RNA:NM_001004723, UniProtKB:Q8NGD1 No chr14 20295608 20296531 19803770 19828372 +PA32331 390539 HGNC:15374 ENSG00000259435 olfactory receptor, family 4, subfamily N, member 3 pseudogene OR4N3P Yes No Ensembl:ENSG00000259435, GenAtlas:OR4N3P, GeneCard:OR4N3P, HGNC:HGNC:15374, NCBI Gene:390539, RefSeq DNA:NG_004355, RefSeq DNA:NT_077631, RefSeq Protein:NP_001074310, RefSeq RNA:NM_001080841, RefSeq RNA:NR_028067 No chr15 22413462 22414398 22125511 22126447 +PA32332 283694 HGNC:15375 ENSG00000183706 olfactory receptor family 4 subfamily N member 4 OR4N4 olfactory receptor, family 4, subfamily N, member 4 Yes No Ensembl:ENSG00000183706, GenAtlas:OR4N4, GeneCard:OR4N4, HGNC:HGNC:15375, ModBase:Q8N0Y3, NCBI Gene:283694, RefSeq DNA:NT_077631, RefSeq Protein:NP_001005241, RefSeq RNA:NM_001005241, UniProtKB:Q8N0Y3 No chr15 22382473 22383815 22094431 22095864 +PA166351999 105369274 HGNC:55110 olfactory receptor family 4 subfamily N member 4C OR4N4C Yes No HGNC:HGNC:55110, NCBI Gene:105369274 No 0 0 0 0 +PA32333 390437 HGNC:15358 ENSG00000184394 olfactory receptor family 4 subfamily N member 5 OR4N5 olfactory receptor, family 4, subfamily N, member 5 Yes No Ensembl:ENSG00000184394, GenAtlas:OR4N5, GeneCard:OR4N5, HGNC:HGNC:15358, ModBase:Q8IXE1, NCBI Gene:390437, RefSeq DNA:NT_026437, RefSeq Protein:NP_001004724, RefSeq RNA:NM_001004724, UniProtKB:Q8IXE1 No chr14 20611895 20612821 20143736 20144662 +PA32334 79308 HGNC:14754 ENSG00000188439 olfactory receptor, family 4, subfamily P, member 1 pseudogene OR4P1P Yes No Ensembl:ENSG00000188439, GenAtlas:OR4P1P, GeneCard:OR4P1P, HGNC:HGNC:14754, NCBI Gene:79308, RefSeq DNA:NG_002236, RefSeq DNA:NT_167190 No chr11 55450716 55451851 55683240 55684375 +PA32337 81300 HGNC:15180 ENSG00000181927 olfactory receptor family 4 subfamily P member 4 OR4P4 olfactory receptor, family 4, subfamily P, member 4 OR4P3P Yes No Ensembl:ENSG00000181927, GenAtlas:OR4P4, GeneCard:OR4P4, HGNC:HGNC:15180, ModBase:Q8NGL7, NCBI Gene:81300, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004124, RefSeq RNA:NM_001004124, UniProtKB:Q8NGL7 No chr11 55405834 55406772 55638358 55639296 +PA32338 81104 HGNC:15376 ENSG00000285135 olfactory receptor, family 4, subfamily Q, member 1 pseudogene OR4Q1P Yes No Ensembl:ENSG00000285135, GenAtlas:OR4Q1P, GeneCard:OR4Q1P, HGNC:HGNC:15376, NCBI Gene:81104, RefSeq DNA:NG_004162, RefSeq DNA:NT_077631 No chr15 22332368 22333348 22044417 22045397 +PA32339 390432 HGNC:15359 ENSG00000196383 olfactory receptor family 4 subfamily Q member 2 (gene/pseudogene) OR4Q2 olfactory receptor, family 4, subfamily Q, member 2 (gene/pseudogene) OR4Q2P Yes No Ensembl:ENSG00000196383, GenAtlas:OR4Q2P, GeneCard:OR4Q2, HGNC:HGNC:15359, NCBI Gene:390432, RefSeq DNA:NG_004349, RefSeq DNA:NT_026437 No chr14 20470321 20471251 20002162 20003092 +PA32340 441669 HGNC:15426 ENSG00000182652 olfactory receptor family 4 subfamily Q member 3 OR4Q3 olfactory receptor, family 4, subfamily Q, member 3 C14orf13, OR4Q4 Yes No Ensembl:ENSG00000182652, GenAtlas:OR4Q3, GeneCard:OR4Q3, HGNC:HGNC:15426, ModBase:Q8NH05, NCBI Gene:441669, RefSeq DNA:NT_026437, RefSeq Protein:NP_751944, RefSeq RNA:NM_172194, UniProtKB:Q8NH05 No chr14 20215587 20216528 19747428 19748369 +PA32341 79528 HGNC:14798 ENSG00000255215 olfactory receptor, family 4, subfamily R, member 1 pseudogene OR4R1P Yes No Ensembl:ENSG00000255215, GenAtlas:OR4R1P, GeneCard:OR4R1P, HGNC:HGNC:14798, NCBI Gene:79528, RefSeq DNA:NG_002265, RefSeq DNA:NT_009237 No chr11 48507739 48508584 48486187 48487032 +PA32342 81299 HGNC:15181 ENSG00000255560 olfactory receptor, family 4, subfamily R, member 2 pseudogene OR4R2P Yes No Ensembl:ENSG00000255560, GenAtlas:OR4R2P, GeneCard:OR4R2P, HGNC:HGNC:15181, NCBI Gene:81299, RefSeq DNA:NG_004231, RefSeq DNA:NT_035158 No chr11 51461327 51462183 54657097 54657953 +PA32343 81298 HGNC:15182 ENSG00000254624 olfactory receptor, family 4, subfamily R, member 3 pseudogene OR4R3P Yes No Ensembl:ENSG00000254624, GenAtlas:OR4R3P, GeneCard:OR4R3P, HGNC:HGNC:15182, NCBI Gene:81298, RefSeq DNA:NG_004230, RefSeq DNA:NT_009237 No chr11 49944602 49945439 49923050 49923887 +PA32344 256148 HGNC:14705 ENSG00000176555 olfactory receptor family 4 subfamily S member 1 OR4S1 olfactory receptor, family 4, subfamily S, member 1 Yes No Ensembl:ENSG00000176555, GenAtlas:OR4S1, GeneCard:OR4S1, HGNC:HGNC:14705, ModBase:Q8NGB4, NCBI Gene:256148, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004725, RefSeq RNA:NM_001004725, UniProtKB:Q8NGB4 No chr11 48327775 48328704 48306223 48307152 +PA32345 219431 HGNC:15183 ENSG00000174982 olfactory receptor family 4 subfamily S member 2 OR4S2 olfactory receptor, family 4, subfamily S, member 2 OR4S2P, OST725 Yes No Ensembl:ENSG00000174982, GeneCard:OR4S2, HGNC:HGNC:15183, ModBase:Q8NH73, NCBI Gene:219431, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004059, RefSeq RNA:NM_001004059, UniProtKB:Q8NH73 No chr11 55418380 55419315 55650904 55651839 +PA32346 390435 HGNC:15360 ENSG00000258641 olfactory receptor, family 4, subfamily T, member 1 pseudogene OR4T1P Yes No Ensembl:ENSG00000258641, GenAtlas:OR4T1P, GeneCard:OR4T1P, HGNC:HGNC:15360, NCBI Gene:390435, RefSeq DNA:NG_004351, RefSeq DNA:NT_026437 No chr14 20561515 20562435 20093356 20094276 +PA32347 390434 HGNC:15361 ENSG00000258899 olfactory receptor, family 4, subfamily U, member 1 pseudogene OR4U1P Yes No Ensembl:ENSG00000258899, GenAtlas:OR4U1P, GeneCard:OR4U1P, HGNC:HGNC:15361, NCBI Gene:390434, RefSeq DNA:NG_004350, RefSeq DNA:NT_026437 No chr14 20512075 20513014 20043916 20044855 +PA32348 79534 HGNC:14736 ENSG00000254841 olfactory receptor, family 4, subfamily V, member 1 pseudogene OR4V1P Yes No Ensembl:ENSG00000254841, GenAtlas:OR4V1P, GeneCard:OR4V1P, HGNC:HGNC:14736, NCBI Gene:79534, RefSeq DNA:NG_002270, RefSeq DNA:NT_167190 No chr11 55441013 55442152 55673537 55674676 +PA32349 81077 HGNC:15405 olfactory receptor, family 4, subfamily W, member 1 pseudogene OR4W1P Yes No GenAtlas:OR4W1P, GeneCard:OR4W1P, HGNC:HGNC:15405, NCBI Gene:81077, RefSeq DNA:NG_004159, RefSeq DNA:NT_011786 No chrX 125636854 125637201 126502871 126503218 +PA32350 390113 HGNC:14854 ENSG00000176567 olfactory receptor family 4 subfamily X member 1 OR4X1 """olfactory receptor family 4 subfamily X member 1 (gene/pseudogene)"", ""olfactory receptor, family 4, subfamily X, member 1"", ""olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)""" Yes No Ensembl:ENSG00000176567, GenAtlas:OR4X1, GeneCard:OR4X1, HGNC:HGNC:14854, ModBase:Q8NH49, NCBI Gene:390113, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004726, RefSeq RNA:NM_001004726, UniProtKB:Q8NH49 No chr11 48285413 48286330 48263861 48264778 +PA32351 119764 HGNC:15184 ENSG00000172208 olfactory receptor family 4 subfamily X member 2 OR4X2 """olfactory receptor family 4 subfamily X member 2 (gene/pseudogene)"", ""olfactory receptor, family 4, subfamily X, member 2""" Yes No Ensembl:ENSG00000172208, GenAtlas:OR4X2, GeneCard:OR4X2, HGNC:HGNC:15184, ModBase:Q8NGF9, NCBI Gene:119764, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004727, RefSeq RNA:NM_001004727, UniProtKB:Q8NGF9 No chr11 48266656 48267567 48245104 48246015 +PA134875755 403264 HGNC:31277 ENSG00000255077 olfactory receptor, family 4, subfamily X, member 7 pseudogene OR4X7P Yes No Ensembl:ENSG00000255077, GeneCard:OR4X7P, HGNC:HGNC:31277, NCBI Gene:403264, RefSeq DNA:NG_005820, RefSeq DNA:NT_167190 No chr11 55179003 55179194 55411527 55411718 +PA32352 81295 HGNC:15185 ENSG00000230484 olfactory receptor, family 51, subfamily A, member 10 pseudogene OR51A10P Yes No Ensembl:ENSG00000230484, GenAtlas:OR51A10P, GeneCard:OR51A10P, HGNC:HGNC:15185, NCBI Gene:81295, RefSeq DNA:NG_004229, RefSeq DNA:NT_009237 No chr11 5489734 5490589 5468504 5469359 +PA32354 26537 HGNC:8316 ENSG00000176752 olfactory receptor, family 51, subfamily A, member 1 pseudogene OR51A1P Yes No Ensembl:ENSG00000176752, GenAtlas:OR51A1P, GeneCard:OR51A1P, HGNC:HGNC:8316, NCBI Gene:26537, RefSeq DNA:NG_002199, RefSeq DNA:NT_009237, UCSC Genome Browser:NM_016942 No chr11 5191287 5192553 5170057 5171323 +PA32355 401667 HGNC:14764 ENSG00000205496 olfactory receptor family 51 subfamily A member 2 OR51A2 olfactory receptor, family 51, subfamily A, member 2 Yes No Ensembl:ENSG00000205496, GenAtlas:OR51A2, GeneCard:OR51A2, HGNC:HGNC:14764, ModBase:Q8NGJ7, NCBI Gene:401667, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004748, RefSeq RNA:NM_001004748, UniProtKB:Q8NGJ7 No chr11 4976002 4976943 4954772 4955713 +PA32356 79532 HGNC:14794 ENSG00000227023 olfactory receptor, family 51, subfamily A, member 3 pseudogene OR51A3P Yes No Ensembl:ENSG00000227023, GenAtlas:OR51A3P, GeneCard:OR51A3P, HGNC:HGNC:14794, NCBI Gene:79532, RefSeq DNA:NG_002268, RefSeq DNA:NT_009237 No chr11 4958568 4959524 4937338 4938294 +PA32357 401666 HGNC:14795 ENSG00000205497 olfactory receptor family 51 subfamily A member 4 OR51A4 olfactory receptor, family 51, subfamily A, member 4 Yes No Ensembl:ENSG00000205497, GenAtlas:OR51A4, GeneCard:OR51A4, HGNC:HGNC:14795, ModBase:Q8NGJ6, NCBI Gene:401666, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005329, RefSeq RNA:NM_001005329, UniProtKB:Q8NGJ6 No chr11 4967389 4968330 4946159 4947100 +PA32358 79525 HGNC:14801 ENSG00000225003 olfactory receptor, family 51, subfamily A, member 5 pseudogene OR51A5P Yes No Ensembl:ENSG00000225003, GenAtlas:OR51A5P, GeneCard:OR51A5P, HGNC:HGNC:14801, NCBI Gene:79525, RefSeq DNA:NG_002263, RefSeq DNA:NT_009237 No chr11 4994161 4995126 4972931 4973896 +PA32359 390046 HGNC:15187 ENSG00000197023 olfactory receptor, family 51, subfamily A, member 6 pseudogene OR51A6P Yes No Ensembl:ENSG00000197023, GenAtlas:OR51A6P, GeneCard:OR51A6P, HGNC:HGNC:15187, NCBI Gene:390046, RefSeq DNA:NG_004325, RefSeq DNA:NT_009237 No chr11 4910807 4911825 4889577 4890595 +PA32360 119687 HGNC:15188 ENSG00000176895 olfactory receptor family 51 subfamily A member 7 OR51A7 olfactory receptor, family 51, subfamily A, member 7 Yes No Ensembl:ENSG00000176895, GenAtlas:OR51A7, GeneCard:OR51A7, HGNC:HGNC:15188, ModBase:Q8NH64, NCBI Gene:119687, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004749, RefSeq RNA:NM_001004749, UniProtKB:Q8NH64 No chr11 4928600 4929538 4907370 4908308 +PA32361 401662 HGNC:15189 ENSG00000197984 olfactory receptor, family 51, subfamily A, member 8 pseudogene OR51A8P Yes No Ensembl:ENSG00000197984, GenAtlas:OR51A8P, GeneCard:OR51A8P, HGNC:HGNC:15189, NCBI Gene:401662, RefSeq DNA:NG_004387, RefSeq DNA:NT_009237 No chr11 4853363 4854299 4832133 4833069 +PA32362 390039 HGNC:15190 ENSG00000180723 olfactory receptor, family 51, subfamily A, member 9 pseudogene OR51A9P Yes No Ensembl:ENSG00000180723, GenAtlas:OR51A9P, GeneCard:OR51A9P, HGNC:HGNC:15190, NCBI Gene:390039, RefSeq DNA:NG_004320, RefSeq DNA:NT_009237 No chr11 4682061 4682959 4660831 4661729 +PA134868717 403265 HGNC:31278 ENSG00000229093 olfactory receptor, family 51, subfamily AB, member 1 pseudogene OR51AB1P Yes No Ensembl:ENSG00000229093, GeneCard:OR51AB1P, HGNC:HGNC:31278, NCBI Gene:403265, RefSeq DNA:NG_004424, RefSeq DNA:NT_009237 No chr11 5312697 5313581 5291467 5292351 +PA32364 79345 HGNC:14703 ENSG00000279012 olfactory receptor family 51 subfamily B member 2 OR51B2 """olfactory receptor family 51 subfamily B member 2 (gene/pseudogene)"", ""olfactory receptor, family 51, subfamily B, member 2""" OR51B1P Yes No Ensembl:ENSG00000279012, GenAtlas:OR51B2, GeneCard:OR51B2, HGNC:HGNC:14703, ModBase:Q9Y5P1, NCBI Gene:79345, RefSeq DNA:NT_009237, RefSeq Protein:NP_149420, RefSeq RNA:NM_033180, UCSC Genome Browser:NM_033180, UniProtKB:Q17R53, UniProtKB:Q9Y5P1 No chr11 5344528 5345582 5323298 5324352 +PA32365 79342 HGNC:14706 ENSG00000223735 olfactory receptor, family 51, subfamily B, member 3 pseudogene OR51B3P Yes No Ensembl:ENSG00000223735, GenAtlas:OR51B3P, GeneCard:OR51B3P, HGNC:HGNC:14706, NCBI Gene:79342, RefSeq DNA:NG_004142, RefSeq DNA:NT_009237 No chr11 5335975 5336923 5314745 5315693 +PA32366 79339 HGNC:14708 ENSG00000183251 olfactory receptor family 51 subfamily B member 4 OR51B4 olfactory receptor, family 51, subfamily B, member 4 Yes No Comparative Toxicogenomics Database:79339, Ensembl:ENSG00000183251, GenAtlas:OR51B4, GeneCard:OR51B4, HGNC:HGNC:14708, ModBase:Q9Y5P0, NCBI Gene:79339, RefSeq DNA:NT_009237, RefSeq Protein:NP_149419, RefSeq RNA:NM_033179, UCSC Genome Browser:NM_033179, UniProtKB:A4FU14, UniProtKB:Q9Y5P0 No chr11 5322244 5323176 5301014 5301946 +PA134907440 282763 HGNC:19599 ENSG00000167355 olfactory receptor family 51 subfamily B member 5 OR51B5 olfactory receptor, family 51, subfamily B, member 5 Yes No Ensembl:ENSG00000167355, GeneCard:OR51B5, HGNC:HGNC:19599, ModBase:Q9H339, NCBI Gene:282763, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005567, RefSeq RNA:NM_001005567, RefSeq RNA:NR_038321, UniProtKB:Q9H339 No chr11 5362113 5368140 5340883 5505652 +PA134989095 390058 HGNC:19600 ENSG00000176239 olfactory receptor family 51 subfamily B member 6 OR51B6 olfactory receptor, family 51, subfamily B, member 6 Yes No Ensembl:ENSG00000176239, GeneCard:OR51B6, HGNC:HGNC:19600, ModBase:Q9H340, NCBI Gene:390058, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004750, RefSeq RNA:NM_001004750, UniProtKB:Q9H340 No chr11 5372738 5373676 5351508 5352446 +PA134983841 403266 HGNC:31279 ENSG00000236359 olfactory receptor, family 51, subfamily B, member 8 pseudogene OR51B8P Yes No Ensembl:ENSG00000236359, GeneCard:OR51B8P, HGNC:HGNC:31279, NCBI Gene:403266, RefSeq DNA:NG_004425, RefSeq DNA:NT_009237 No chr11 5351818 5352575 5330588 5331345 +PA32367 401661 HGNC:15191 ENSG00000197674 olfactory receptor family 51 subfamily C member 1 OR51C1 olfactory receptor, family 51, subfamily C, member 1 pseudogene OR51C1P, OR51C2P, OR51C3P, OST734 Yes No Ensembl:ENSG00000197674, GenAtlas:OR51C1P, GeneCard:OR51C1P, HGNC:HGNC:15191, NCBI Gene:401661, RefSeq DNA:NG_004228, RefSeq DNA:NT_009237 No chr11 4711990 4712931 4690760 4691701 +PA134972499 390041 HGNC:31280 ENSG00000272664 olfactory receptor, family 51, subfamily C, member 4 pseudogene OR51C4P Yes No Ensembl:ENSG00000272664, GeneCard:OR51C4P, HGNC:HGNC:31280, NCBI Gene:390041, RefSeq DNA:NG_004322, RefSeq DNA:NT_009237 No chr11 4739842 4740789 4718612 4719559 +PA32370 390038 HGNC:15193 ENSG00000197428 olfactory receptor family 51 subfamily D member 1 OR51D1 olfactory receptor, family 51, subfamily D, member 1 OR51D1Q Yes No Ensembl:ENSG00000197428, GenAtlas:OR51D1, GeneCard:OR51D1, HGNC:HGNC:15193, ModBase:Q8NGF3, NCBI Gene:390038, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004751, RefSeq RNA:NM_001004751, UniProtKB:Q8NGF3 No chr11 4660945 4662068 4639715 4640838 +PA32371 143503 HGNC:15194 ENSG00000180785 olfactory receptor family 51 subfamily E member 1 OR51E1 olfactory receptor, family 51, subfamily E, member 1 GPR136, GPR164, OR51E1P, OR52A3P Yes No Ensembl:ENSG00000180785, GenAtlas:OR51E1, GeneCard:OR51E1, HGNC:HGNC:15194, HumanCyc Gene:HS11529, ModBase:Q8TCB6, NCBI Gene:143503, OMIM:611267, RefSeq DNA:NT_009237, RefSeq Protein:NP_689643, RefSeq RNA:NM_152430, UniProtKB:Q8TCB6 No chr11 4665156 4676718 4643926 4655488 +PA32372 81285 HGNC:15195 ENSG00000167332 olfactory receptor family 51 subfamily E member 2 OR51E2 olfactory receptor, family 51, subfamily E, member 2 PSGR Yes No Ensembl:ENSG00000167332, GenAtlas:OR51E2, GeneCard:OR51E2, HGNC:HGNC:15195, HumanCyc Gene:HS09542, ModBase:Q9H255, NCBI Gene:81285, OMIM:611268, RefSeq DNA:NT_009237, RefSeq Protein:NP_110401, RefSeq RNA:NM_030774, UCSC Genome Browser:NM_030774, UniProtKB:Q9H255 No chr11 4701401 4719076 4680171 4697846 +PA32374 256892 HGNC:15196 ENSG00000280021 olfactory receptor family 51 subfamily F member 1 OR51F1 """olfactory receptor family 51 subfamily F member 1 (gene/pseudogene)"", ""olfactory receptor, family 51, subfamily F, member 1""" OR51F1P Yes No Ensembl:ENSG00000280021, GenAtlas:OR51F1, GeneCard:OR51F1, HGNC:HGNC:15196, ModBase:A6NGY5, NCBI Gene:256892, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004752, RefSeq RNA:NM_001004752, UniProtKB:A6NLW9 No chr11 4790209 4791147 4768979 4769917 +PA32375 119694 HGNC:15197 ENSG00000176925 olfactory receptor family 51 subfamily F member 2 OR51F2 olfactory receptor, family 51, subfamily F, member 2 Yes No Ensembl:ENSG00000176925, GenAtlas:OR51F2, GeneCard:OR51F2, HGNC:HGNC:15197, ModBase:Q8NH61, NCBI Gene:119694, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004753, RefSeq RNA:NM_001004753, UniProtKB:Q8NH61 No chr11 4842616 4843644 4821386 4822414 +PA134967633 390043 HGNC:31281 ENSG00000272559 olfactory receptor, family 51, subfamily F, member 3 pseudogene OR51F3P Yes No Ensembl:ENSG00000272559, GeneCard:OR51F3P, HGNC:HGNC:31281, NCBI Gene:390043, RefSeq DNA:NG_004323, RefSeq DNA:NT_009237 No chr11 4757407 4758307 4736177 4737077 +PA134864179 390044 HGNC:31282 ENSG00000273051 olfactory receptor, family 51, subfamily F, member 4 pseudogene OR51F4P Yes No Ensembl:ENSG00000273051, GeneCard:OR51F4P, HGNC:HGNC:31282, NCBI Gene:390044, RefSeq DNA:NG_004324, RefSeq DNA:NT_009237 No chr11 4773275 4774173 4752045 4752943 +PA134938970 390040 HGNC:31283 ENSG00000272634 olfactory receptor, family 51, subfamily F, member 5 pseudogene OR51F5P Yes No Ensembl:ENSG00000272634, GeneCard:OR51F5P, HGNC:HGNC:31283, NCBI Gene:390040, RefSeq DNA:NG_004321, RefSeq DNA:NT_009237 No chr11 4730799 4731740 4709569 4710510 +PA32376 79324 HGNC:14738 ENSG00000278870 olfactory receptor family 51 subfamily G member 1 OR51G1 """olfactory receptor family 51 subfamily G member 1 (gene/pseudogene)"", ""olfactory receptor, family 51, subfamily G, member 1""" OR51G3P Yes No Ensembl:ENSG00000278870, GenAtlas:OR51G1, GeneCard:OR51G1, HGNC:HGNC:14738, ModBase:Q8NGK1, NCBI Gene:79324, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005237, RefSeq RNA:NM_001005237, UniProtKB:Q8NGK1 No chr11 4944604 4945569 4923374 4924339 +PA32377 81282 HGNC:15198 ENSG00000176893 olfactory receptor family 51 subfamily G member 2 OR51G2 olfactory receptor, family 51, subfamily G, member 2 Yes No Ensembl:ENSG00000176893, GenAtlas:OR51G2, GeneCard:OR51G2, HGNC:HGNC:15198, ModBase:Q8NGK0, NCBI Gene:81282, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005238, RefSeq RNA:NM_001005238, UniProtKB:Q8NGK0 No chr11 4935949 4936893 4914719 4915663 +PA32378 401663 HGNC:14833 ENSG00000176904 olfactory receptor family 51 subfamily H member 1 OR51H1 """olfactory receptor, family 51, subfamily H, member 1"", ""olfactory receptor, family 51, subfamily H, member 1 pseudogene""" OR51H1P Yes No Ensembl:ENSG00000176904, GenAtlas:OR51H1P, GeneCard:OR51H1P, HGNC:HGNC:14833, ModBase:Q8NH63, NCBI Gene:401663, RefSeq DNA:NG_004388, RefSeq DNA:NT_009237 No chr11 4880849 4881793 4859619 4860563 +PA32379 401664 HGNC:15199 ENSG00000198217 olfactory receptor, family 51, subfamily H, member 2 pseudogene OR51H2P Yes No Ensembl:ENSG00000198217, GenAtlas:OR51H2P, GeneCard:OR51H2P, HGNC:HGNC:15199, NCBI Gene:401664, RefSeq DNA:NG_004389, RefSeq DNA:NT_009237 No chr11 4897787 4898733 4876557 4877503 +PA32380 390063 HGNC:15200 ENSG00000167359 olfactory receptor family 51 subfamily I member 1 OR51I1 olfactory receptor, family 51, subfamily I, member 1 Yes No Ensembl:ENSG00000167359, GenAtlas:OR51I1, GeneCard:OR51I1, HGNC:HGNC:15200, ModBase:Q9H343, NCBI Gene:390063, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005288, RefSeq RNA:NM_001005288, UniProtKB:Q9H343 No chr11 5461772 5462783 5440542 5441553 +PA32381 390064 HGNC:15201 ENSG00000187918 olfactory receptor family 51 subfamily I member 2 OR51I2 olfactory receptor, family 51, subfamily I, member 2 Yes No Ensembl:ENSG00000187918, GenAtlas:OR51I2, GeneCard:OR51I2, HGNC:HGNC:15201, ModBase:Q9H344, NCBI Gene:390064, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004754, RefSeq RNA:NM_001004754, UniProtKB:Q9H344 No chr11 5474638 5475707 5453408 5454477 +PA32382 79470 HGNC:14856 ENSG00000184321 olfactory receptor family 51 subfamily J member 1 OR51J1 """olfactory receptor family 51 subfamily J member 1 (gene/pseudogene)"", ""olfactory receptor, family 51, subfamily J, member 1 (gene/pseudogene)""" OR51J1P, OR51J2 Yes No Ensembl:ENSG00000184321, GenAtlas:OR51J1, GeneCard:OR51J1, HGNC:HGNC:14856, ModBase:Q9H342, NCBI Gene:79470, RefSeq DNA:NG_002252, RefSeq DNA:NT_009237 No chr11 5423727 5424901 5402497 5403671 +PA32383 81278 HGNC:15202 ENSG00000248424 olfactory receptor, family 51, subfamily K, member 1 pseudogene OR51K1P Yes No Ensembl:ENSG00000248424, GenAtlas:OR51K1P, GeneCard:OR51K1P, HGNC:HGNC:15202, NCBI Gene:81278, RefSeq DNA:NG_004226, RefSeq DNA:NT_009237 No chr11 5451886 5452832 5430656 5431602 +PA32384 119682 HGNC:14759 ENSG00000176798 olfactory receptor family 51 subfamily L member 1 OR51L1 olfactory receptor, family 51, subfamily L, member 1 Yes No Ensembl:ENSG00000176798, GenAtlas:OR51L1, GeneCard:OR51L1, HGNC:HGNC:14759, ModBase:Q8NGJ5, NCBI Gene:119682, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004755, RefSeq RNA:NM_001004755, UniProtKB:Q8NGJ5 No chr11 5020213 5021160 4998983 4999930 +PA32385 390059 HGNC:14847 ENSG00000184698 olfactory receptor family 51 subfamily M member 1 OR51M1 olfactory receptor, family 51, subfamily M, member 1 Yes No Ensembl:ENSG00000184698, GenAtlas:OR51M1, GeneCard:OR51M1, HGNC:HGNC:14847, ModBase:Q9H341, NCBI Gene:390059, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004756, RefSeq RNA:NM_001004756, UniProtKB:B2RNI9 No chr11 5410607 5411664 5389377 5390434 +PA32386 119696 HGNC:14757 ENSG00000176951 olfactory receptor, family 51, subfamily N, member 1 pseudogene OR51N1P Yes No Ensembl:ENSG00000176951, GenAtlas:OR51N1P, GeneCard:OR51N1P, HGNC:HGNC:14757, NCBI Gene:119696, RefSeq DNA:NG_004281, RefSeq DNA:NT_009237 No chr11 4807984 4808932 4786754 4787702 +PA32387 79300 HGNC:14762 ENSG00000224300 olfactory receptor, family 51, subfamily P, member 1 pseudogene OR51P1P Yes No Ensembl:ENSG00000224300, GenAtlas:OR51P1P, GeneCard:OR51P1P, HGNC:HGNC:14762, NCBI Gene:79300, RefSeq DNA:NG_002232, RefSeq DNA:NT_009237 No chr11 5036260 5037411 5015030 5016181 +PA32388 390061 HGNC:14851 ENSG00000167360 olfactory receptor family 51 subfamily Q member 1 OR51Q1 """olfactory receptor family 51 subfamily Q member 1 (gene/pseudogene)"", ""olfactory receptor, family 51, subfamily Q, member 1"", ""olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)""" Yes No Ensembl:ENSG00000167360, GenAtlas:OR51Q1, GeneCard:OR51Q1, HGNC:HGNC:14851, ModBase:Q8NH59, NCBI Gene:390061, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004757, RefSeq RNA:NM_001004757, UniProtKB:Q8NH59 No chr11 5443341 5444436 5422111 5423206 +PA32389 390034 HGNC:15203 ENSG00000237272 olfactory receptor, family 51, subfamily R, member 1 pseudogene OR51R1P Yes No Ensembl:ENSG00000237272, GenAtlas:OR51R1P, GeneCard:OR51R1P, HGNC:HGNC:15203, NCBI Gene:390034, RefSeq DNA:NG_004318, RefSeq DNA:NT_009237 No chr11 4439290 4440238 4418060 4419008 +PA32390 119692 HGNC:15204 ENSG00000176922 olfactory receptor family 51 subfamily S member 1 OR51S1 olfactory receptor, family 51, subfamily S, member 1 Yes No Ensembl:ENSG00000176922, GenAtlas:OR51S1, GeneCard:OR51S1, HGNC:HGNC:15204, ModBase:Q8NGJ8, NCBI Gene:119692, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004758, RefSeq RNA:NM_001004758, UniProtKB:Q8NGJ8 No chr11 4869467 4870438 4848237 4849208 +PA32391 401665 HGNC:15205 ENSG00000176900 olfactory receptor family 51 subfamily T member 1 OR51T1 olfactory receptor, family 51, subfamily T, member 1 Yes No Ensembl:ENSG00000176900, GenAtlas:OR51T1, GeneCard:OR51T1, HGNC:HGNC:15205, ModBase:Q8NGJ9, NCBI Gene:401665, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004759, RefSeq RNA:NM_001004759 No chr11 4903049 4904113 4881819 4882883 +PA134873075 283111 HGNC:19597 ENSG00000176742 olfactory receptor family 51 subfamily V member 1 OR51V1 olfactory receptor, family 51, subfamily V, member 1 OR51A12 Yes No Ensembl:ENSG00000176742, GeneCard:OR51V1, HGNC:HGNC:19597, ModBase:Q9H2C8, NCBI Gene:283111, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004760, RefSeq RNA:NM_001004760, UniProtKB:Q9H2C8 No chr11 5220965 5221930 5199735 5200700 +PA32392 23538 HGNC:8318 ENSG00000182070 olfactory receptor family 52 subfamily A member 1 OR52A1 olfactory receptor, family 52, subfamily A, member 1 HPFH1OR Yes No Ensembl:ENSG00000182070, GenAtlas:OR52A1, GeneCard:OR52A1, HGNC:HGNC:8318, ModBase:Q9UKL2, NCBI Gene:23538, RefSeq DNA:NT_009237, RefSeq Protein:NP_036507, RefSeq RNA:NM_012375, UCSC Genome Browser:NM_012375, UniProtKB:Q9UKL2 No chr11 5172661 5173599 5151431 5152369 +PA134991603 390054 HGNC:19580 ENSG00000171944 olfactory receptor family 52 subfamily A member 5 OR52A5 olfactory receptor, family 52, subfamily A, member 5 Yes No Ensembl:ENSG00000171944, GeneCard:OR52A5, HGNC:HGNC:19580, ModBase:Q9H2C5, NCBI Gene:390054, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005160, RefSeq RNA:NM_001005160, UniProtKB:Q9H2C5 No chr11 5152922 5153872 5131692 5132642 +PA32395 81274 HGNC:15206 ENSG00000180909 olfactory receptor, family 52, subfamily B, member 1 pseudogene OR52B1P Yes No Ensembl:ENSG00000180909, GenAtlas:OR52B1P, GeneCard:OR52B1P, HGNC:HGNC:15206, NCBI Gene:81274, RefSeq DNA:NG_004225, RefSeq DNA:NT_009237 No chr11 6172825 6173779 6151595 6152549 +PA32396 255725 HGNC:15207 ENSG00000255307 olfactory receptor family 52 subfamily B member 2 OR52B2 olfactory receptor, family 52, subfamily B, member 2 Yes No Ensembl:ENSG00000255307, GenAtlas:OR52B2, GeneCard:OR52B2, HGNC:HGNC:15207, ModBase:Q96RD2, NCBI Gene:255725, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004052, RefSeq RNA:NM_001004052, UniProtKB:Q96RD2 No chr11 6190585 6191556 6169355 6170326 +PA32397 387747 HGNC:15208 ENSG00000175800 olfactory receptor, family 52, subfamily B, member 3 pseudogene OR52B3P Yes No Ensembl:ENSG00000175800, GenAtlas:OR52B3P, GeneCard:OR52B3P, HGNC:HGNC:15208, NCBI Gene:387747, RefSeq DNA:NG_004311, RefSeq DNA:NT_009237 No chr11 4399512 4400454 4378282 4379224 +PA32398 143496 HGNC:15209 ENSG00000221996 olfactory receptor family 52 subfamily B member 4 OR52B4 """olfactory receptor family 52 subfamily B member 4 (gene/pseudogene)"", ""olfactory receptor, family 52, subfamily B, member 4""" Yes No Ensembl:ENSG00000221996, GenAtlas:OR52B4, GeneCard:OR52B4, HGNC:HGNC:15209, ModBase:Q8NGK2, NCBI Gene:143496, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005161, RefSeq RNA:NM_001005161, UniProtKB:Q8NGK2 No chr11 4388493 4389616 4367263 4368386 +PA32399 81270 HGNC:15210 ENSG00000231049 olfactory receptor, family 52, subfamily B, member 5 pseudogene OR52B5P Yes No Ensembl:ENSG00000231049, GenAtlas:OR52B5P, GeneCard:OR52B5P, HGNC:HGNC:15210, NCBI Gene:81270, RefSeq DNA:NG_004224, RefSeq DNA:NT_009237 No chr11 5582197 5583141 5560967 5561911 +PA32400 340980 HGNC:15211 ENSG00000187747 olfactory receptor family 52 subfamily B member 6 OR52B6 olfactory receptor, family 52, subfamily B, member 6 Yes No Ensembl:ENSG00000187747, GenAtlas:OR52B6, GeneCard:OR52B6, HGNC:HGNC:15211, ModBase:Q8NGF0, NCBI Gene:340980, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005162, RefSeq RNA:NM_001005162, UniProtKB:Q8NGF0 No chr11 5602107 5603114 5580877 5581884 +PA32401 390066 HGNC:15212 ENSG00000181609 olfactory receptor family 52 subfamily D member 1 OR52D1 olfactory receptor, family 52, subfamily D, member 1 Yes No Ensembl:ENSG00000181609, GenAtlas:OR52D1, GeneCard:OR52D1, HGNC:HGNC:15212, ModBase:Q9H346, NCBI Gene:390066, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005163, RefSeq RNA:NM_001005163, UniProtKB:Q9H346 No chr11 5509915 5510979 5488685 5489749 +PA32402 79296 HGNC:14766 ENSG00000273085 olfactory receptor family 52 subfamily E member 1 (gene/pseudogene) OR52E1 olfactory receptor, family 52, subfamily E, member 1 (gene/pseudogene) OR52E1P Yes No Ensembl:ENSG00000273085, GenAtlas:OR52E1P, GeneCard:OR52E1, HGNC:HGNC:14766, ModBase:Q8NGJ3, NCBI Gene:79296, RefSeq DNA:NG_003197, RefSeq DNA:NT_009237, UniProtKB:Q8NGJ3 No chr11 5090702 5091826 5069472 5070596 +PA32403 119678 HGNC:14769 ENSG00000176787 olfactory receptor family 52 subfamily E member 2 OR52E2 olfactory receptor, family 52, subfamily E, member 2 Yes Yes Ensembl:ENSG00000176787, GenAtlas:OR52E2, GeneCard:OR52E2, HGNC:HGNC:14769, ModBase:Q8NGJ4, NCBI Gene:119678, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005164, RefSeq RNA:NM_001005164, UniProtKB:Q8NGJ4 No chr11 5079880 5080857 5058650 5059627 +PA32404 79533 HGNC:14793 ENSG00000226157 olfactory receptor, family 52, subfamily E, member 3 pseudogene OR52E3P Yes No Ensembl:ENSG00000226157, GenAtlas:OR52E3P, GeneCard:OR52E3P, HGNC:HGNC:14793, NCBI Gene:79533, RefSeq DNA:NG_002269, RefSeq DNA:NT_009237 No chr11 5113906 5114880 5092676 5093650 +PA32405 390081 HGNC:15213 ENSG00000180974 olfactory receptor family 52 subfamily E member 4 OR52E4 olfactory receptor, family 52, subfamily E, member 4 Yes No Ensembl:ENSG00000180974, GenAtlas:OR52E4, GeneCard:OR52E4, HGNC:HGNC:15213, ModBase:Q8NGH9, NCBI Gene:390081, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005165, RefSeq RNA:NM_001005165, UniProtKB:Q8NGH9 No chr11 5905523 5906461 5884293 5885231 +PA32406 390082 HGNC:15214 ENSG00000277932 olfactory receptor family 52 subfamily E member 5 OR52E5 olfactory receptor, family 52, subfamily E, member 5 Yes No Ensembl:ENSG00000277932, GenAtlas:OR52E5, GeneCard:OR52E5, HGNC:HGNC:15214, ModBase:Q8NH55, NCBI Gene:390082, RefSeq DNA:NG_005911, RefSeq DNA:NT_009237 No chr11 5922007 5923155 5900777 5901925 +PA32407 390078 HGNC:15215 ENSG00000205409 olfactory receptor family 52 subfamily E member 6 OR52E6 olfactory receptor, family 52, subfamily E, member 6 Yes No Ensembl:ENSG00000205409, GenAtlas:OR52E6, GeneCard:OR52E6, HGNC:HGNC:15215, ModBase:Q96RD3, NCBI Gene:390078, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005167, RefSeq RNA:NM_001005167, UniProtKB:Q96RD3 No chr11 5862186 5863127 5840956 5841897 +PA32408 81264 HGNC:15216 ENSG00000233563 olfactory receptor, family 52, subfamily E, member 7 pseudogene OR52E7P Yes No Ensembl:ENSG00000233563, GenAtlas:OR52E7P, GeneCard:OR52E7P, HGNC:HGNC:15216, NCBI Gene:81264, RefSeq DNA:NG_004223, RefSeq DNA:NT_009237 No chr11 5895190 5896118 5873960 5874888 +PA32409 390079 HGNC:15217 ENSG00000183269 olfactory receptor family 52 subfamily E member 8 OR52E8 olfactory receptor, family 52, subfamily E, member 8 Yes No Ensembl:ENSG00000183269, GenAtlas:OR52E8, GeneCard:OR52E8, HGNC:HGNC:15217, ModBase:Q6IFG1, NCBI Gene:390079, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005168, RefSeq RNA:NM_001005168, UniProtKB:Q6IFG1 No chr11 5877979 5878932 5856749 5857702 +PA32410 390067 HGNC:15218 ENSG00000181616 olfactory receptor family 52 subfamily H member 1 OR52H1 olfactory receptor, family 52, subfamily H, member 1 Yes No Ensembl:ENSG00000181616, GenAtlas:OR52H1, GeneCard:OR52H1, HGNC:HGNC:15218, ModBase:Q8NGJ2, NCBI Gene:390067, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005289, RefSeq RNA:NM_001005289, UniProtKB:Q8NGJ2 No chr11 5565791 5566753 5544561 5545523 +PA32411 81261 HGNC:15219 ENSG00000248553 olfactory receptor, family 52, subfamily H, member 2 pseudogene OR52H2P Yes No Ensembl:ENSG00000248553, GenAtlas:OR52H2P, GeneCard:OR52H2P, HGNC:HGNC:15219, NCBI Gene:81261, RefSeq DNA:NG_004222, RefSeq DNA:NT_009237 No chr11 5572895 5573826 5551665 5552596 +PA32412 390037 HGNC:15220 ENSG00000232268 olfactory receptor family 52 subfamily I member 1 OR52I1 olfactory receptor, family 52, subfamily I, member 1 Yes No Ensembl:ENSG00000232268, GenAtlas:OR52I1, GeneCard:OR52I1, HGNC:HGNC:15220, ModBase:Q8NGK6, NCBI Gene:390037, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005169, RefSeq RNA:NM_001005169, UniProtKB:Q8NGK6 No chr11 4615269 4616243 4594039 4595013 +PA32413 143502 HGNC:15221 ENSG00000226288 olfactory receptor family 52 subfamily I member 2 OR52I2 olfactory receptor, family 52, subfamily I, member 2 Yes No Ensembl:ENSG00000226288, GenAtlas:OR52I2, GeneCard:OR52I2, HGNC:HGNC:15221, ModBase:Q8NH67, NCBI Gene:143502, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005170, RefSeq RNA:NM_001005170, UniProtKB:Q8NH67 No chr11 4608021 4609135 4586791 4587905 +PA32414 79302 HGNC:14760 ENSG00000203560 olfactory receptor, family 52, subfamily J, member 1 pseudogene OR52J1P Yes No Ensembl:ENSG00000203560, GenAtlas:OR52J1P, GeneCard:OR52J1P, HGNC:HGNC:14760, NCBI Gene:79302, RefSeq DNA:NG_002234, RefSeq DNA:NT_009237 No chr11 5125454 5126323 5104224 5105093 +PA32415 79529 HGNC:14797 ENSG00000230261 olfactory receptor, family 52, subfamily J, member 2 pseudogene OR52J2P Yes No Ensembl:ENSG00000230261, GenAtlas:OR52J2P, GeneCard:OR52J2P, HGNC:HGNC:14797, NCBI Gene:79529, RefSeq DNA:NG_002266, RefSeq DNA:NT_009237 No chr11 5058146 5059304 5036916 5038074 +PA32416 119679 HGNC:14799 ENSG00000205495 olfactory receptor family 52 subfamily J member 3 OR52J3 olfactory receptor, family 52, subfamily J, member 3 Yes Yes Ensembl:ENSG00000205495, GenAtlas:OR52J3, GeneCard:OR52J3, HGNC:HGNC:14799, ModBase:Q8NH60, NCBI Gene:119679, RefSeq DNA:NT_009237, RefSeq Protein:NP_001001916, RefSeq RNA:NM_001001916, UniProtKB:Q8NH60 No chr11 5067756 5068691 5046526 5047461 +PA32417 390036 HGNC:15222 ENSG00000196778 olfactory receptor family 52 subfamily K member 1 OR52K1 olfactory receptor, family 52, subfamily K, member 1 Yes No Ensembl:ENSG00000196778, GenAtlas:OR52K1, GeneCard:OR52K1, HGNC:HGNC:15222, ModBase:Q8NGK4, NCBI Gene:390036, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005171, RefSeq RNA:NM_001005171, UniProtKB:Q8NGK4 No chr11 4510109 4511138 4488879 4489908 +PA32418 119774 HGNC:15223 ENSG00000181963 olfactory receptor family 52 subfamily K member 2 OR52K2 olfactory receptor, family 52, subfamily K, member 2 Yes No Ensembl:ENSG00000181963, GenAtlas:OR52K2, GeneCard:OR52K2, HGNC:HGNC:15223, ModBase:Q8NGK3, NCBI Gene:119774, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005172, RefSeq RNA:NM_001005172, UniProtKB:Q8NGK3 No chr11 4470525 4471591 4449295 4450361 +PA32419 390035 HGNC:15224 ENSG00000225101 olfactory receptor, family 52, subfamily K, member 3 pseudogene OR52K3P Yes No Ensembl:ENSG00000225101, GenAtlas:OR52K3P, GeneCard:OR52K3P, HGNC:HGNC:15224, NCBI Gene:390035, RefSeq DNA:NG_004319, RefSeq DNA:NT_009237 No chr11 4496040 4496986 4474810 4475756 +PA32420 338751 HGNC:14785 ENSG00000183313 olfactory receptor family 52 subfamily L member 1 OR52L1 olfactory receptor, family 52, subfamily L, member 1 Yes No Ensembl:ENSG00000183313, GenAtlas:OR52L1, GeneCard:OR52L1, HGNC:HGNC:14785, ModBase:Q8NGH7, NCBI Gene:338751, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005173, RefSeq RNA:NM_001005173, UniProtKB:Q8NGH7 No chr11 6007122 6008215 5985892 5986985 +PA32421 79274 HGNC:14788 ENSG00000262980 olfactory receptor, family 52, subfamily L, member 2 pseudogene OR52L2P Yes No Ensembl:ENSG00000262980, GenAtlas:OR52L2P, GeneCard:OR52L2P, HGNC:HGNC:14788, ModBase:Q8NGH6, NCBI Gene:79274, RefSeq DNA:NG_003195, RefSeq DNA:NT_009237 No chr11 6078449 6079560 6057219 6058330 +PA32422 119772 HGNC:15225 ENSG00000197790 olfactory receptor family 52 subfamily M member 1 OR52M1 olfactory receptor, family 52, subfamily M, member 1 OR52M1P Yes No Ensembl:ENSG00000197790, GeneCard:OR52M1, HGNC:HGNC:15225, ModBase:Q8NGK5, NCBI Gene:119772, RefSeq DNA:NT_009237, RefSeq Protein:NP_001004137, RefSeq RNA:NM_001004137, UniProtKB:Q8NGK5 No chr11 4566421 4567374 4545191 4546144 +PA32423 338637 HGNC:15226 ENSG00000226616 olfactory receptor, family 52, subfamily M, member 2 pseudogene OR52M2P Yes No Ensembl:ENSG00000226616, GenAtlas:OR52M2P, GeneCard:OR52M2P, HGNC:HGNC:15226, NCBI Gene:338637, RefSeq DNA:NG_004305, RefSeq DNA:NT_009237 No chr11 4536175 4537154 4514945 4515924 +PA32425 79473 HGNC:14853 ENSG00000181001 olfactory receptor family 52 subfamily N member 1 OR52N1 olfactory receptor, family 52, subfamily N, member 1 Yes No Ensembl:ENSG00000181001, GenAtlas:OR52N1, GeneCard:OR52N1, HGNC:HGNC:14853, ModBase:Q8NH53, NCBI Gene:79473, RefSeq DNA:NT_009237, RefSeq Protein:NP_001001913, RefSeq RNA:NM_001001913, UniProtKB:Q8NH53 No chr11 5809084 5810046 5787854 5788816 +PA32426 390077 HGNC:15228 ENSG00000180988 olfactory receptor family 52 subfamily N member 2 OR52N2 olfactory receptor, family 52, subfamily N, member 2 Yes No Ensembl:ENSG00000180988, GenAtlas:OR52N2, GeneCard:OR52N2, HGNC:HGNC:15228, ModBase:Q8NGI0, NCBI Gene:390077, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005174, RefSeq RNA:NM_001005174, UniProtKB:Q8NGI0 No chr11 5825018 5842572 5803433 5822675 +PA32427 81251 HGNC:15229 ENSG00000236965 olfactory receptor, family 52, subfamily N, member 3 pseudogene OR52N3P Yes No Ensembl:ENSG00000236965, GenAtlas:OR52N3P, GeneCard:OR52N3P, HGNC:HGNC:15229, NCBI Gene:81251, RefSeq DNA:NG_004221, RefSeq DNA:NT_009237 No chr11 5821594 5822551 5800364 5801321 +PA32428 390072 HGNC:15230 ENSG00000181074 olfactory receptor family 52 subfamily N member 4 OR52N4 """olfactory receptor family 52 subfamily N member 4 (gene/pseudogene)"", ""olfactory receptor, family 52, subfamily N, member 4"", ""olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)""" Yes No Ensembl:ENSG00000181074, GenAtlas:OR52N4, GeneCard:OR52N4, HGNC:HGNC:15230, ModBase:Q8NGI2, NCBI Gene:390072, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005175, RefSeq RNA:NM_001005175, UniProtKB:Q8NGI2 No chr11 5757228 5777162 5722137 5755958 +PA32429 390075 HGNC:15231 ENSG00000181009 olfactory receptor family 52 subfamily N member 5 OR52N5 olfactory receptor, family 52, subfamily N, member 5 OR52N5Q Yes No Ensembl:ENSG00000181009, GenAtlas:OR52N5, GeneCard:OR52N5, HGNC:HGNC:15231, ModBase:Q8NH56, NCBI Gene:390075, RefSeq DNA:NT_009237, RefSeq Protein:NP_001001922, RefSeq RNA:NM_001001922, UniProtKB:Q8NH56 No chr11 5798864 5799897 5777634 5778667 +PA166352001 81248 HGNC:15232 olfactory receptor family 52 subfamily P member 1 (gene/pseudogene) OR52P1 OR52P1P Yes No HGNC:HGNC:15232, NCBI Gene:81248 No 0 0 0 0 +PA32431 119775 HGNC:15233 ENSG00000171999 olfactory receptor, family 52, subfamily P, member 2 pseudogene OR52P2P Yes No Ensembl:ENSG00000171999, GenAtlas:OR52P2P, GeneCard:OR52P2P, HGNC:HGNC:15233, NCBI Gene:119775, RefSeq DNA:NG_004282, RefSeq DNA:NT_009237 No chr11 4452562 4453458 4431332 4432228 +PA32432 81246 HGNC:15234 ENSG00000277514 olfactory receptor, family 52, subfamily Q, member 1 pseudogene OR52Q1P Yes No Ensembl:ENSG00000277514, GenAtlas:OR52Q1P, GeneCard:OR52Q1P, HGNC:HGNC:15234, NCBI Gene:81246, RefSeq DNA:NG_004219, RefSeq DNA:NT_009237 No chr11 5924866 5925709 5903636 5904479 +PA32433 119695 HGNC:15235 ENSG00000279270 olfactory receptor family 52 subfamily R member 1 OR52R1 """olfactory receptor family 52 subfamily R member 1 (gene/pseudogene)"", ""olfactory receptor, family 52, subfamily R, member 1""" Yes No Ensembl:ENSG00000279270, GenAtlas:OR52R1, GeneCard:OR52R1, HGNC:HGNC:15235, NCBI Gene:119695, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005177, RefSeq RNA:NM_001005177, UniProtKB:Q8NGF1 No chr11 4824663 4825610 4803433 4804380 +PA32434 79521 HGNC:14805 ENSG00000237354 olfactory receptor, family 52, subfamily S, member 1 pseudogene OR52S1P Yes No Ensembl:ENSG00000237354, GenAtlas:OR52S1P, GeneCard:OR52S1P, HGNC:HGNC:14805, NCBI Gene:79521, RefSeq DNA:NG_002262, RefSeq DNA:NT_009237 No chr11 5097342 5098296 5076112 5077066 +PA32435 81244 HGNC:15236 ENSG00000233646 olfactory receptor, family 52, subfamily T, member 1 pseudogene OR52T1P Yes No Ensembl:ENSG00000233646, GenAtlas:OR52T1P, GeneCard:OR52T1P, HGNC:HGNC:15236, NCBI Gene:81244, RefSeq DNA:NG_004218, RefSeq DNA:NT_009237 No chr11 5587880 5588845 5566650 5567615 +PA32436 81243 HGNC:15237 ENSG00000232381 olfactory receptor, family 52, subfamily U, member 1 pseudogene OR52U1P Yes No Ensembl:ENSG00000232381, GenAtlas:OR52U1P, GeneCard:OR52U1P, HGNC:HGNC:15237, NCBI Gene:81243, RefSeq DNA:NG_004217, RefSeq DNA:NT_009237 No chr11 5740520 5741496 5719290 5720266 +PA32437 81242 HGNC:15238 ENSG00000249633 olfactory receptor, family 52, subfamily V, member 1 pseudogene OR52V1P Yes No Ensembl:ENSG00000249633, GenAtlas:OR52V1P, GeneCard:OR52V1P, HGNC:HGNC:15238, NCBI Gene:81242, RefSeq DNA:NG_004216, RefSeq DNA:NT_009237 No chr11 5548453 5549356 5527223 5528126 +PA32438 120787 HGNC:15239 ENSG00000175485 olfactory receptor family 52 subfamily W member 1 OR52W1 olfactory receptor, family 52, subfamily W, member 1 OR52W1P Yes No Ensembl:ENSG00000175485, GenAtlas:OR52W1, GeneCard:OR52W1, HGNC:HGNC:15239, ModBase:Q6IF63, NCBI Gene:120787, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005178, RefSeq RNA:NM_001005178 No chr11 6220454 6221416 6199224 6200186 +PA32439 79272 HGNC:14790 ENSG00000234895 olfactory receptor, family 52, subfamily X, member 1 pseudogene OR52X1P Yes No Ensembl:ENSG00000234895, GenAtlas:OR52X1P, GeneCard:OR52X1P, HGNC:HGNC:14790, NCBI Gene:79272, RefSeq DNA:NG_002220, RefSeq DNA:NT_009237 No chr11 6087943 6089122 6066713 6067892 +PA32440 81240 HGNC:15240 ENSG00000231070 olfactory receptor, family 52, subfamily Y, member 1 pseudogene OR52Y1P Yes No Ensembl:ENSG00000231070, GenAtlas:OR52Y1P, GeneCard:OR52Y1P, HGNC:HGNC:15240, NCBI Gene:81240, RefSeq DNA:NG_004215, RefSeq DNA:NT_009237 No chr11 4814998 4815491 4793768 4794261 +PA32441 390030 HGNC:15241 ENSG00000231548 olfactory receptor, family 55, subfamily B, member 1 pseudogene OR55B1P Yes No Ensembl:ENSG00000231548, GenAtlas:OR55B1P, GeneCard:OR55B1P, HGNC:HGNC:15241, NCBI Gene:390030, RefSeq DNA:NG_004317, RefSeq DNA:NT_009237 No chr11 4167545 4168524 4146315 4147294 +PA32443 120796 HGNC:14781 ENSG00000180934 olfactory receptor family 56 subfamily A member 1 OR56A1 olfactory receptor, family 56, subfamily A, member 1 Yes No Ensembl:ENSG00000180934, GenAtlas:OR56A1, GeneCard:OR56A1, HGNC:HGNC:14781, ModBase:Q8NGH5, NCBI Gene:120796, RefSeq DNA:NT_009237, RefSeq Protein:NP_001001917, RefSeq RNA:NM_001001917, UniProtKB:Q8NGH5 No chr11 6047901 6048971 6026671 6027741 +PA32445 390083 HGNC:14786 ENSG00000184478 olfactory receptor family 56 subfamily A member 3 OR56A3 olfactory receptor, family 56, subfamily A, member 3 OR56A3P, OR56A6 Yes No Ensembl:ENSG00000184478, GenAtlas:OR56A3, GeneCard:OR56A3, HGNC:HGNC:14786, ModBase:Q8NH54, NCBI Gene:390083, RefSeq DNA:NT_009237, RefSeq Protein:NP_001003443, RefSeq RNA:NM_001003443, UniProtKB:Q8NH54 No chr11 5968577 5969524 5947347 5948294 +PA32446 120793 HGNC:14791 ENSG00000183389 olfactory receptor family 56 subfamily A member 4 OR56A4 olfactory receptor, family 56, subfamily A, member 4 Yes No Ensembl:ENSG00000183389, GenAtlas:OR56A4, GeneCard:OR56A4, HGNC:HGNC:14791, ModBase:Q8NGH8, NCBI Gene:120793, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005179, RefSeq RNA:NM_001005179, UniProtKB:Q8NGH8 No chr11 6023281 6024378 6002051 6003148 +PA32447 390084 HGNC:14792 ENSG00000188691 olfactory receptor family 56 subfamily A member 5 OR56A5 olfactory receptor, family 56, subfamily A, member 5 OR56A5P Yes No Ensembl:ENSG00000188691, GenAtlas:OR56A5, GeneCard:OR56A5, HGNC:HGNC:14792, ModBase:P0C7T3, NCBI Gene:390084, RefSeq DNA:NT_009237, RefSeq Protein:NP_001139505, RefSeq Protein:XP_001715217, RefSeq Protein:XP_002343088, RefSeq Protein:XP_945192, RefSeq RNA:NM_001146033, RefSeq RNA:XM_001715165, RefSeq RNA:XM_002343047, RefSeq RNA:XM_940099, UniProtKB:P0C7T3 No chr11 5988783 5989724 5967553 5968494 +PA32449 81236 HGNC:15244 ENSG00000255481 olfactory receptor, family 56, subfamily A, member 7 pseudogene OR56A7P Yes No Ensembl:ENSG00000255481, GenAtlas:OR56A7P, GeneCard:OR56A7P, HGNC:HGNC:15244, NCBI Gene:81236, RefSeq DNA:NG_004214, RefSeq DNA:NT_009237 No chr11 6067039 6067976 6045809 6046746 +PA32450 387748 HGNC:15245 ENSG00000181023 olfactory receptor family 56 subfamily B member 1 OR56B1 olfactory receptor, family 56, subfamily B, member 1 OR56B1P Yes No Ensembl:ENSG00000181023, GenAtlas:OR56B1, GeneCard:OR56B1, HGNC:HGNC:15245, ModBase:Q8NGI3, NCBI Gene:387748, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005180, RefSeq RNA:NM_001005180, UniProtKB:Q8NGI3 No chr11 5757678 5758768 5736448 5737538 +PA32451 390073 HGNC:15246 ENSG00000181017 olfactory receptor family 56 subfamily B member 2 OR56B2 olfactory receptor, family 56, subfamily B, member 2 pseudogene OR56B2P Yes No Ensembl:ENSG00000181017, GenAtlas:OR56B2P, GeneCard:OR56B2P, HGNC:HGNC:15246, ModBase:Q8NGI1, NCBI Gene:390073, RefSeq DNA:NG_004326, RefSeq DNA:NT_009237 No chr11 5786391 5787275 5765161 5766045 +PA32452 401675 HGNC:15247 ENSG00000180913 olfactory receptor, family 56, subfamily B, member 3 pseudogene OR56B3P Yes No Ensembl:ENSG00000180913, GenAtlas:OR56B3P, GeneCard:OR56B3P, HGNC:HGNC:15247, NCBI Gene:401675, RefSeq DNA:NG_004390, RefSeq DNA:NT_009237 No chr11 6149840 6150783 6128610 6129553 +PA32453 196335 HGNC:15248 ENSG00000180919 olfactory receptor family 56 subfamily B member 4 OR56B4 olfactory receptor, family 56, subfamily B, member 4 Yes No Ensembl:ENSG00000180919, GenAtlas:OR56B4, GeneCard:OR56B4, HGNC:HGNC:15248, ModBase:Q8NH76, NCBI Gene:196335, RefSeq DNA:NT_009237, RefSeq Protein:NP_001005181, RefSeq RNA:NM_001005181, UniProtKB:Q6IF63, UniProtKB:Q8NH76 No chr11 6129009 6129968 6107684 6108835 +PA32454 219982 HGNC:8319 ENSG00000172320 olfactory receptor family 5 subfamily A member 1 OR5A1 olfactory receptor, family 5, subfamily A, member 1 OR5A1P, OST181 Yes No Ensembl:ENSG00000172320, GenAtlas:OR5A1, GeneCard:OR5A1, HGNC:HGNC:8319, ModBase:Q8NGJ0, NCBI Gene:219982, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004728, RefSeq RNA:NM_001004728, UniProtKB:Q8NGJ0 No chr11 59210642 59211589 59443169 59444116 +PA32455 219981 HGNC:15249 ENSG00000172324 olfactory receptor family 5 subfamily A member 2 OR5A2 olfactory receptor, family 5, subfamily A, member 2 Yes No Ensembl:ENSG00000172324, GenAtlas:OR5A2, GeneCard:OR5A2, HGNC:HGNC:15249, ModBase:Q8NGI9, NCBI Gene:219981, RefSeq DNA:NT_167190, RefSeq Protein:NP_001001954, RefSeq RNA:NM_001001954, UniProtKB:Q8NGI9 No chr11 59189452 59190426 59421979 59422953 +PA32456 81431 HGNC:15047 ENSG00000213439 olfactory receptor family 5 subfamily AC member 1 (gene/pseudogene) OR5AC1 olfactory receptor, family 5, subfamily AC, member 1 (gene/pseudogene) OR5AC1P Yes No Ensembl:ENSG00000213439, GenAtlas:OR5AC1P, GeneCard:OR5AC1, HGNC:HGNC:15047, NCBI Gene:81431, RefSeq DNA:NG_004267, RefSeq DNA:NT_005612 No chr3 97783315 97784236 98064471 98065392 +PA32457 81050 HGNC:15431 ENSG00000196578 olfactory receptor family 5 subfamily AC member 2 OR5AC2 olfactory receptor, family 5, subfamily AC, member 2 HSA1 Yes No Ensembl:ENSG00000196578, GenAtlas:OR5AC2, GeneCard:OR5AC2, HGNC:HGNC:15431, ModBase:Q9NZP5, NCBI Gene:81050, RefSeq DNA:NT_005612, RefSeq Protein:NP_473447, RefSeq RNA:NM_054106, UniProtKB:Q9NZP5 No chr3 97806017 97806946 98087173 98088102 +PA134915056 403271 HGNC:31284 ENSG00000251090 olfactory receptor, family 5, subfamily AC, member 4 pseudogene OR5AC4P Yes No Ensembl:ENSG00000251090, GeneCard:OR5AC4P, HGNC:HGNC:31284, NCBI Gene:403271, RefSeq DNA:NG_004426, RefSeq DNA:NT_005612 No chr3 97823598 97824513 98104754 98105669 +PA32458 79336 HGNC:14714 ENSG00000268067 olfactory receptor, family 5, subfamily AH, member 1 pseudogene OR5AH1P Yes No Ensembl:ENSG00000268067, GenAtlas:OR5AH1P, GeneCard:OR5AH1P, HGNC:HGNC:14714, NCBI Gene:79336, RefSeq DNA:NG_002357, RefSeq DNA:NT_011109 No chr19 57272233 57272601 56760865 56761233 +PA32459 81230 HGNC:15250 ENSG00000255083 olfactory receptor, family 5, subfamily AK, member 1 pseudogene OR5AK1P Yes No Ensembl:ENSG00000255083, GenAtlas:OR5AK1P, GeneCard:OR5AK1P, HGNC:HGNC:15250, NCBI Gene:81230, RefSeq DNA:NG_004213, RefSeq DNA:NT_167190 No chr11 56785567 56786494 57018092 57019019 +PA32460 390181 HGNC:15251 ENSG00000181273 olfactory receptor family 5 subfamily AK member 2 OR5AK2 olfactory receptor, family 5, subfamily AK, member 2 Yes No Ensembl:ENSG00000181273, GenAtlas:OR5AK2, GeneCard:OR5AK2, HGNC:HGNC:15251, ModBase:Q8NH90, NCBI Gene:390181, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005323, RefSeq RNA:NM_001005323, UniProtKB:Q8NH90 No chr11 56756389 56757318 56988914 56989843 +PA32461 81228 HGNC:15252 ENSG00000181282 olfactory receptor, family 5, subfamily AK, member 3 pseudogene OR5AK3P Yes No Ensembl:ENSG00000181282, GenAtlas:OR5AK3P, GeneCard:OR5AK3P, HGNC:HGNC:15252, ModBase:Q8NH89, NCBI Gene:81228, RefSeq DNA:NG_004212, RefSeq DNA:NT_167190 No chr11 56738526 56739452 56971051 56971977 +PA32462 219525 HGNC:15253 ENSG00000283307 olfactory receptor, family 5, subfamily AK, member 4 pseudogene OR5AK4P Yes No Ensembl:ENSG00000283307, GenAtlas:OR5AK4P, GeneCard:OR5AK4P, HGNC:HGNC:15253, NCBI Gene:219525, RefSeq DNA:NG_002337, RefSeq DNA:NT_167190, RefSeq RNA:NR_036445 No chr11 56805009 56805935 57037534 57038460 +PA32463 79482 HGNC:14844 ENSG00000272987 olfactory receptor family 5 subfamily AL member 1 (gene/pseudogene) OR5AL1 olfactory receptor, family 5, subfamily AL, member 1 (gene/pseudogene) OR5AL1P Yes No Ensembl:ENSG00000272987, GenAtlas:OR5AL1P, GeneCard:OR5AL1, HGNC:HGNC:14844, NCBI Gene:79482, RefSeq DNA:NG_004144, RefSeq DNA:NT_033903 No chr11 56180173 56181157 56412697 56413681 +PA32464 79476 HGNC:14850 ENSG00000255466 olfactory receptor, family 5, subfamily AL, member 2 pseudogene OR5AL2P Yes No Ensembl:ENSG00000255466, GenAtlas:OR5AL2P, GeneCard:OR5AL2P, HGNC:HGNC:14850, NCBI Gene:79476, RefSeq DNA:NG_004143, RefSeq DNA:NT_167190 No chr11 56161206 56162125 56393730 56394649 +PA32465 81226 HGNC:15254 ENSG00000255172 olfactory receptor, family 5, subfamily AM, member 1 pseudogene OR5AM1P Yes No Ensembl:ENSG00000255172, GenAtlas:OR5AM1P, GeneCard:OR5AM1P, HGNC:HGNC:15254, NCBI Gene:81226, RefSeq DNA:NG_004211, RefSeq DNA:NT_167190 No chr11 56387222 56388286 56619746 56620810 +PA32466 390195 HGNC:15255 ENSG00000176495 olfactory receptor family 5 subfamily AN member 1 OR5AN1 olfactory receptor, family 5, subfamily AN, member 1 Yes No Ensembl:ENSG00000176495, GenAtlas:OR5AN1, GeneCard:OR5AN1, HGNC:HGNC:15255, ModBase:Q8NGI8, NCBI Gene:390195, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004729, RefSeq RNA:NM_001004729, UniProtKB:Q8NGI8 No chr11 59131932 59132867 59364459 59365394 +PA32467 81224 HGNC:15256 ENSG00000235678 olfactory receptor, family 5, subfamily AN, member 2 pseudogene OR5AN2P Yes No Ensembl:ENSG00000235678, GenAtlas:OR5AN2P, GeneCard:OR5AN2P, HGNC:HGNC:15256, NCBI Gene:81224, RefSeq DNA:NG_004210, RefSeq DNA:NT_167190 No chr11 59077115 59078061 59309642 59310588 +PA134968463 403272 HGNC:31285 ENSG00000272676 olfactory receptor, family 5, subfamily AO, member 1 pseudogene OR5AO1P Yes No Ensembl:ENSG00000272676, GeneCard:OR5AO1P, HGNC:HGNC:31285, NCBI Gene:403272, RefSeq DNA:NG_004427, RefSeq DNA:NT_167190 No chr11 56812555 56812885 57045080 57045410 +PA32468 81223 HGNC:15257 ENSG00000254795 olfactory receptor, family 5, subfamily AP, member 1 pseudogene OR5AP1P Yes No Ensembl:ENSG00000254795, GenAtlas:OR5AP1P, GeneCard:OR5AP1P, HGNC:HGNC:15257, NCBI Gene:81223, RefSeq DNA:NG_004209, RefSeq DNA:NT_167190 No chr11 56400639 56401578 56633163 56634102 +PA32469 338675 HGNC:15258 ENSG00000172464 olfactory receptor family 5 subfamily AP member 2 OR5AP2 olfactory receptor, family 5, subfamily AP, member 2 Yes No Ensembl:ENSG00000172464, GenAtlas:OR5AP2, GeneCard:OR5AP2, HGNC:HGNC:15258, ModBase:Q8NGF4, NCBI Gene:338675, RefSeq DNA:NT_167190, RefSeq Protein:NP_001002925, RefSeq RNA:NM_001002925, UniProtKB:Q8NGF4 No chr11 56408965 56409915 56641489 56642439 +PA32470 81221 HGNC:15259 ENSG00000184741 olfactory receptor, family 5, subfamily AQ, member 1 pseudogene OR5AQ1P Yes No Ensembl:ENSG00000184741, GenAtlas:OR5AQ1P, GeneCard:OR5AQ1P, HGNC:HGNC:15259, NCBI Gene:81221, RefSeq DNA:NG_004208, RefSeq DNA:NT_167190 No chr11 55821841 55822776 56054365 56055300 +PA32471 219493 HGNC:15260 ENSG00000172459 olfactory receptor family 5 subfamily AR member 1 OR5AR1 """olfactory receptor family 5 subfamily AR member 1 (gene/pseudogene)"", ""olfactory receptor, family 5, subfamily AR, member 1"", ""olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)""" Yes No Ensembl:ENSG00000172459, GenAtlas:OR5AR1, GeneCard:OR5AR1, HGNC:HGNC:15260, ModBase:Q8NGP9, NCBI Gene:219493, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004730, RefSeq RNA:NM_001004730, UniProtKB:Q8NGP9 No chr11 56431162 56432094 56663686 56664618 +PA32472 219447 HGNC:15261 ENSG00000181785 olfactory receptor family 5 subfamily AS member 1 OR5AS1 olfactory receptor, family 5, subfamily AS, member 1 Yes No Ensembl:ENSG00000181785, GenAtlas:OR5AS1, GeneCard:OR5AS1, HGNC:HGNC:15261, ModBase:Q8N127, NCBI Gene:219447, RefSeq DNA:NT_167190, RefSeq Protein:NP_001001921, RefSeq RNA:NM_001001921, UniProtKB:Q8N127 No chr11 55797895 55798869 56030419 56031393 +PA32474 390445 HGNC:15362 ENSG00000169327 olfactory receptor family 5 subfamily AU member 1 OR5AU1 olfactory receptor, family 5, subfamily AU, member 1 Yes No Ensembl:ENSG00000169327, GenAtlas:OR5AU1, GeneCard:OR5AU1, HGNC:HGNC:15362, ModBase:Q8NGC0, NCBI Gene:390445, RefSeq DNA:NT_026437, RefSeq Protein:NP_001004731, RefSeq RNA:NM_001004731, UniProtKB:Q8NGC0 No chr14 21623096 21624184 21154937 21156025 +PA32476 81076 HGNC:15406 ENSG00000229082 olfactory receptor, family 5, subfamily AW, member 1 pseudogene OR5AW1P Yes No Ensembl:ENSG00000229082, GenAtlas:OR5AW1P, GeneCard:OR5AW1P, HGNC:HGNC:15406, NCBI Gene:81076, RefSeq DNA:NG_004158, RefSeq DNA:NT_011786 No chrX 130475503 130476426 131341529 131342452 +PA32479 283193 HGNC:15262 ENSG00000180714 olfactory receptor, family 5, subfamily AZ, member 1 pseudogene OR5AZ1P Yes No Ensembl:ENSG00000180714, GenAtlas:OR5AZ1P, GeneCard:OR5AZ1P, HGNC:HGNC:15262, NCBI Gene:283193, RefSeq DNA:NG_004207, RefSeq DNA:NT_167190 No chr11 57684774 57685702 57917302 57918230 +PA32480 390186 HGNC:8320 ENSG00000255096 olfactory receptor, family 5, subfamily B, member 10 pseudogene OR5B10P OR13-34, OR13-64, OR13-67 Yes No Ensembl:ENSG00000255096, GenAtlas:OR5B10P, GeneCard:OR5B10P, HGNC:HGNC:8320, NCBI Gene:390186, RefSeq DNA:NG_002306, RefSeq DNA:NT_167190 No chr11 58116458 58117111 58348985 58349638 +PA32481 390191 HGNC:15432 ENSG00000172362 olfactory receptor family 5 subfamily B member 12 OR5B12 olfactory receptor, family 5, subfamily B, member 12 OR5B12P, OR5B16, OST743 Yes No Ensembl:ENSG00000172362, GenAtlas:OR5B12, GeneCard:OR5B12, HGNC:HGNC:15432, ModBase:Q96R08, NCBI Gene:390191, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004733, RefSeq RNA:NM_001004733, UniProtKB:Q96R08 No chr11 58206593 58207646 58439120 58440173 +PA32484 81215 HGNC:15265 ENSG00000273408 olfactory receptor, family 5, subfamily B, member 15 pseudogene OR5B15P Yes No Ensembl:ENSG00000273408, GenAtlas:OR5B15P, GeneCard:OR5B15P, HGNC:HGNC:15265, NCBI Gene:81215, RefSeq DNA:NG_004206, RefSeq DNA:NT_167190 No chr11 58155044 58155959 58387571 58388486 +PA32486 219965 HGNC:15267 ENSG00000197786 olfactory receptor family 5 subfamily B member 17 OR5B17 olfactory receptor, family 5, subfamily B, member 17 OR5B20P Yes No Ensembl:ENSG00000197786, GenAtlas:OR5B17, GeneCard:OR5B17, HGNC:HGNC:15267, ModBase:Q8NGF7, NCBI Gene:219965, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005489, RefSeq RNA:NM_001005489, UniProtKB:Q8NGF7 No chr11 58125598 58126542 58358125 58359069 +PA32488 81211 HGNC:15269 ENSG00000255431 olfactory receptor, family 5, subfamily B, member 19 pseudogene OR5B19P Yes No Ensembl:ENSG00000255431, GenAtlas:OR5B19P, GeneCard:OR5B19P, HGNC:HGNC:15269, NCBI Gene:81211, RefSeq DNA:NG_004205, RefSeq DNA:NT_167190 No chr11 58111286 58112143 58343813 58344670 +PA32489 401692 HGNC:8322 ENSG00000233499 olfactory receptor, family 5, subfamily B, member 1 pseudogene OR5B1P OR3-144, OR6-55, OR6-57, OR8-122, OR8-123, OR912-92 Yes No Ensembl:ENSG00000233499, GenAtlas:OR5B1P, GeneCard:OR5B1P, HGNC:HGNC:8322, NCBI Gene:401692, RefSeq DNA:NG_002305, RefSeq DNA:NT_167190 No chr11 58133394 58134041 58365921 58366568 +PA32490 390190 HGNC:8323 ENSG00000172365 olfactory receptor family 5 subfamily B member 2 OR5B2 olfactory receptor, family 5, subfamily B, member 2 OST073 Yes No Ensembl:ENSG00000172365, GenAtlas:OR5B2, GeneCard:OR5B2, HGNC:HGNC:8323, ModBase:Q96R09, NCBI Gene:390190, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005566, RefSeq RNA:NM_001005566, UniProtKB:Q96R09 No chr11 58189738 58190786 58422265 58423313 +PA134867164 219968 HGNC:19616 ENSG00000198283 olfactory receptor family 5 subfamily B member 21 OR5B21 olfactory receptor, family 5, subfamily B, member 21 Yes No Ensembl:ENSG00000198283, GeneCard:OR5B21, HGNC:HGNC:19616, ModBase:A6NL26, NCBI Gene:219968, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005218, RefSeq RNA:NM_001005218, UniProtKB:A6NL26 No chr11 58274649 58275578 58507176 58508105 +PA32491 441608 HGNC:8324 ENSG00000172769 olfactory receptor family 5 subfamily B member 3 OR5B3 olfactory receptor, family 5, subfamily B, member 3 OR5B13, OST129 Yes No Ensembl:ENSG00000172769, GenAtlas:OR5B3, GeneCard:OR5B3, HGNC:HGNC:8324, ModBase:Q8NH48, NCBI Gene:441608, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005469, RefSeq RNA:NM_001005469, UniProtKB:Q8NH48 No chr11 58169938 58170882 58402465 58403409 +PA32494 81210 HGNC:15270 ENSG00000255303 olfactory receptor, family 5, subfamily BA, member 1 pseudogene OR5BA1P Yes No Ensembl:ENSG00000255303, GenAtlas:OR5BA1P, GeneCard:OR5BA1P, HGNC:HGNC:15270, NCBI Gene:81210, RefSeq DNA:NG_004204, RefSeq DNA:NT_167190 No chr11 57633774 57634752 57866302 57867280 +PA32495 81209 HGNC:15271 ENSG00000198261 olfactory receptor, family 5, subfamily BB, member 1 pseudogene OR5BB1P Yes No Ensembl:ENSG00000198261, GenAtlas:OR5BB1P, GeneCard:OR5BB1P, HGNC:HGNC:15271, NCBI Gene:81209, RefSeq DNA:NG_004203, RefSeq DNA:NT_167190 No chr11 59158826 59159764 59391353 59392291 +PA32496 81208 HGNC:15272 ENSG00000255218 olfactory receptor, family 5, subfamily BC, member 1 pseudogene OR5BC1P Yes No Ensembl:ENSG00000255218, GenAtlas:OR5BC1P, GeneCard:OR5BC1P, HGNC:HGNC:15272, NCBI Gene:81208, RefSeq DNA:NG_004202, RefSeq DNA:NT_167190 No chr11 58085112 58085945 58317640 58318473 +PA32497 79483 HGNC:14843 ENSG00000254749 olfactory receptor, family 5, subfamily BD, member 1 pseudogene OR5BD1P Yes No Ensembl:ENSG00000254749, GenAtlas:OR5BD1P, GeneCard:OR5BD1P, HGNC:HGNC:14843, NCBI Gene:79483, RefSeq DNA:NG_002253, RefSeq DNA:NT_167190 No chr11 57712969 57713995 57945497 57946523 +PA32498 81207 HGNC:15273 ENSG00000225538 olfactory receptor, family 5, subfamily BE, member 1 pseudogene OR5BE1P Yes No Ensembl:ENSG00000225538, GenAtlas:OR5BE1P, GeneCard:OR5BE1P, HGNC:HGNC:15273, NCBI Gene:81207, RefSeq DNA:NG_004201, RefSeq DNA:NT_167190 No chr11 55850277 55851212 56082801 56083736 +PA32501 81075 HGNC:15407 ENSG00000242610 olfactory receptor, family 5, subfamily BH, member 1 pseudogene OR5BH1P Yes No Ensembl:ENSG00000242610, GenAtlas:OR5BH1P, GeneCard:OR5BH1P, HGNC:HGNC:15407, NCBI Gene:81075, RefSeq DNA:NG_004157, RefSeq DNA:NT_011786 No chrX 130532023 130532931 131398049 131398957 +PA32503 81047 HGNC:15434 ENSG00000257792 olfactory receptor, family 5, subfamily BJ, member 1 pseudogene OR5BJ1P OST740 Yes No Ensembl:ENSG00000257792, GenAtlas:OR5BJ1P, GeneCard:OR5BJ1P, HGNC:HGNC:15434, NCBI Gene:81047, RefSeq DNA:NG_004156, RefSeq DNA:NT_029419 No chr12 48788265 48789168 48394482 48395385 +PA32504 401718 HGNC:14817 ENSG00000257763 olfactory receptor, family 5, subfamily BK, member 1 pseudogene OR5BK1P Yes No Ensembl:ENSG00000257763, GenAtlas:OR5BK1P, GeneCard:OR5BK1P, HGNC:HGNC:14817, NCBI Gene:401718, RefSeq DNA:NG_004391, RefSeq DNA:NT_029419 No chr12 48749442 48750328 48355659 48356545 +PA32505 81205 HGNC:15275 ENSG00000272569 olfactory receptor, family 5, subfamily BL, member 1 pseudogene OR5BL1P Yes No Ensembl:ENSG00000272569, GenAtlas:OR5BL1P, GeneCard:OR5BL1P, HGNC:HGNC:15275, NCBI Gene:81205, RefSeq DNA:NG_004200, RefSeq DNA:NT_167190 No chr11 57938562 57939194 58171090 58171722 +PA32506 79491 HGNC:14835 ENSG00000250750 olfactory receptor, family 5, subfamily BM, member 1 pseudogene OR5BM1P Yes No Ensembl:ENSG00000250750, GenAtlas:OR5BM1P, GeneCard:OR5BM1P, HGNC:HGNC:14835, NCBI Gene:79491, RefSeq DNA:NG_004145, RefSeq DNA:NT_005612 No chr3 97771737 97772662 98052893 98053818 +PA32507 81204 HGNC:15276 ENSG00000254848 olfactory receptor, family 5, subfamily BN, member 1 pseudogene OR5BN1P Yes No Ensembl:ENSG00000254848, GenAtlas:OR5BN1P, GeneCard:OR5BN1P, HGNC:HGNC:15276, NCBI Gene:81204, RefSeq DNA:NG_004199, RefSeq DNA:NT_167190 No chr11 55900141 55900969 56132665 56133493 +PA142671226 504181 HGNC:29194 ENSG00000255140 olfactory receptor, family 5, subfamily BN, member 2 pseudogene OR5BN2P Yes No Ensembl:ENSG00000255140, GeneCard:OR5BN2P, HGNC:HGNC:29194, NCBI Gene:504181, RefSeq DNA:NG_004864, RefSeq DNA:NT_167190 No chr11 55884114 55884731 56116638 56117255 +PA32508 81203 HGNC:15277 ENSG00000273255 olfactory receptor, family 5, subfamily BP, member 1 pseudogene OR5BP1P Yes No Ensembl:ENSG00000273255, GenAtlas:OR5BP1P, GeneCard:OR5BP1P, HGNC:HGNC:15277, NCBI Gene:81203, RefSeq DNA:NG_004198, RefSeq DNA:NT_167190 No chr11 56823176 56823609 57055701 57056134 +PA32509 81202 HGNC:15278 ENSG00000273228 olfactory receptor, family 5, subfamily BQ, member 1 pseudogene OR5BQ1P Yes No Ensembl:ENSG00000273228, GenAtlas:OR5BQ1P, GeneCard:OR5BQ1P, HGNC:HGNC:15278, NCBI Gene:81202, RefSeq DNA:NG_004197, RefSeq DNA:NT_167190 No chr11 56796863 56797198 57029388 57029723 +PA32510 81201 HGNC:15279 ENSG00000255386 olfactory receptor, family 5, subfamily BR, member 1 pseudogene OR5BR1P Yes No Ensembl:ENSG00000255386, GenAtlas:OR5BR1P, GeneCard:OR5BR1P, HGNC:HGNC:15279, NCBI Gene:81201, RefSeq DNA:NG_004196, RefSeq DNA:NT_167190 No chr11 59100229 59101558 59332756 59334085 +PA134922217 390313 HGNC:19627 ENSG00000198678 olfactory receptor family 5 subfamily BS member 1 OR5BS1 olfactory receptor, family 5, subfamily BS, member 1 pseudogene OR5BS1P Yes No Ensembl:ENSG00000198678, GeneCard:OR5BS1P, HGNC:HGNC:19627, NCBI Gene:390313, RefSeq DNA:NG_004343, RefSeq DNA:NT_029419 No chr12 48953665 48954597 48559882 48560814 +PA134946371 282790 HGNC:19629 ENSG00000258024 olfactory receptor, family 5, subfamily BT, member 1 pseudogene OR5BT1P Yes No Ensembl:ENSG00000258024, GeneCard:OR5BT1P, HGNC:HGNC:19629, NCBI Gene:282790, RefSeq DNA:NG_004300, RefSeq DNA:NT_029419 No chr12 48779133 48780087 48385350 48386304 +PA32511 392391 HGNC:8331 ENSG00000148215 olfactory receptor family 5 subfamily C member 1 OR5C1 olfactory receptor, family 5, subfamily C, member 1 OR5C2P, OR9-F, hRPK-465_F_21 Yes No Ensembl:ENSG00000148215, GenAtlas:OR5C1, GeneCard:OR5C1, HGNC:HGNC:8331, ModBase:Q8NGR4, NCBI Gene:392391, RefSeq DNA:NT_008470, RefSeq Protein:NP_001001923, RefSeq RNA:NM_001001923, UniProtKB:Q8NGR4 No chr9 125551212 125552174 122788933 122789895 +PA32516 390142 HGNC:15280 ENSG00000279761 olfactory receptor family 5 subfamily D member 13 OR5D13 """olfactory receptor family 5 subfamily D member 13 (gene/pseudogene)"", ""olfactory receptor, family 5, subfamily D, member 13""" Yes No Ensembl:ENSG00000279761, GenAtlas:OR5D13, GeneCard:OR5D13, HGNC:HGNC:15280, ModBase:Q8NGL4, NCBI Gene:390142, RefSeq DNA:NT_167190, RefSeq Protein:NP_001001967, RefSeq RNA:NM_001001967 No chr11 55540914 55541858 55773438 55774382 +PA32517 219436 HGNC:15281 ENSG00000186113 olfactory receptor family 5 subfamily D member 14 OR5D14 olfactory receptor, family 5, subfamily D, member 14 Yes No Ensembl:ENSG00000186113, GenAtlas:OR5D14, GeneCard:OR5D14, HGNC:HGNC:15281, ModBase:Q8NGL3, NCBI Gene:219436, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004735, RefSeq RNA:NM_001004735, UniProtKB:Q8NGL3 No chr11 55563032 55563976 55795556 55796500 +PA32518 81198 HGNC:15282 ENSG00000255019 olfactory receptor, family 5, subfamily D, member 15 pseudogene OR5D15P Yes No Ensembl:ENSG00000255019, GenAtlas:OR5D15P, GeneCard:OR5D15P, HGNC:HGNC:15282, NCBI Gene:81198, RefSeq DNA:NG_004195, RefSeq DNA:NT_167190 No chr11 55554441 55555382 55786965 55787906 +PA32519 390144 HGNC:15283 ENSG00000205029 olfactory receptor family 5 subfamily D member 16 OR5D16 olfactory receptor, family 5, subfamily D, member 16 Yes No Ensembl:ENSG00000205029, GenAtlas:OR5D16, GeneCard:OR5D16, HGNC:HGNC:15283, ModBase:Q8NGK9, NCBI Gene:390144, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005496, RefSeq RNA:NM_001005496, UniProtKB:Q8NGK9 No chr11 55606228 55607214 55838752 55839738 +PA32520 81196 HGNC:15284 ENSG00000181837 olfactory receptor, family 5, subfamily D, member 17 pseudogene OR5D17P Yes No Ensembl:ENSG00000181837, GenAtlas:OR5D17P, GeneCard:OR5D17P, HGNC:HGNC:15284, NCBI Gene:81196, RefSeq DNA:NG_004194, RefSeq DNA:NT_167190 No chr11 55522453 55523430 55754977 55755954 +PA32521 219438 HGNC:15285 ENSG00000186119 olfactory receptor family 5 subfamily D member 18 OR5D18 olfactory receptor, family 5, subfamily D, member 18 Yes No Ensembl:ENSG00000186119, GenAtlas:OR5D18, GeneCard:OR5D18, HGNC:HGNC:15285, ModBase:Q8NGL1, NCBI Gene:219438, RefSeq DNA:NT_167190, RefSeq Protein:NP_001001952, RefSeq RNA:NM_001001952, UniProtKB:Q8NGL1 No chr11 55587106 55588047 55819630 55820571 +PA32522 8595 HGNC:8335 ENSG00000254457 olfactory receptor, family 5, subfamily D, member 2 pseudogene OR5D2P OR11-7a, OR18-17, OR18-42, OR18-43, OR18-44, OR8-125, OR8-127, OR912-47, OR912-91, OR912-94, R5D9P Yes No Ensembl:ENSG00000254457, GenAtlas:OR5D2P, GeneCard:OR5D2P, HGNC:HGNC:8335, NCBI Gene:8595, RefSeq DNA:NG_002277, RefSeq DNA:NT_167190 No chr11 55482473 55483109 55714997 55715633 +PA32523 8594 HGNC:8336 ENSG00000186886 olfactory receptor, family 5, subfamily D, member 3 pseudogene OR5D3P OR11-8b, OR11-8c Yes No Ensembl:ENSG00000186886, GenAtlas:OR5D3P, GeneCard:OR5D3P, HGNC:HGNC:8336, NCBI Gene:8594, RefSeq DNA:NG_002172, RefSeq DNA:NT_167190 No chr11 55493890 55494538 55726414 55727062 +PA32525 26343 HGNC:8342 ENSG00000170688 olfactory receptor, family 5, subfamily E, member 1 pseudogene OR5E1P HSTPCR24, TPCR24 Yes No Ensembl:ENSG00000170688, GenAtlas:OR5E1P, GeneCard:OR5E1P, HGNC:HGNC:8342, NCBI Gene:26343, RefSeq DNA:NT_009237, RefSeq RNA:NR_027711 No chr11 7870598 7871118 7849051 7849571 +PA32526 338674 HGNC:8343 ENSG00000149133 olfactory receptor family 5 subfamily F member 1 OR5F1 olfactory receptor, family 5, subfamily F, member 1 OR11-10 Yes No Ensembl:ENSG00000149133, GenAtlas:OR5F1, GeneCard:OR5F1, HGNC:HGNC:8343, ModBase:O95221, NCBI Gene:338674, OMIM:608492, RefSeq DNA:NT_167190, RefSeq Protein:NP_003688, RefSeq RNA:NM_003697, UniProtKB:O95221 No chr11 55761157 55762101 55993681 55994625 +PA32527 81194 HGNC:15286 ENSG00000182365 olfactory receptor, family 5, subfamily F, member 2 pseudogene OR5F2P Yes No Ensembl:ENSG00000182365, GenAtlas:OR5F2P, GeneCard:OR5F2P, HGNC:HGNC:15286, NCBI Gene:81194, RefSeq DNA:NG_004193, RefSeq DNA:NT_167190 No chr11 55782492 55783432 56015016 56015956 +PA32528 8591 HGNC:8344 ENSG00000181296 olfactory receptor, family 5, subfamily G, member 1 pseudogene OR5G1P OR11-104, OR93 Yes No Ensembl:ENSG00000181296, GenAtlas:OR5G1P, GeneCard:OR5G1P, HGNC:HGNC:8344, NCBI Gene:8591, RefSeq DNA:NG_002299, RefSeq DNA:NT_167190 No chr11 56542760 56543682 56775284 56776206 +PA32529 81193 HGNC:15287 ENSG00000241356 olfactory receptor family 5 subfamily G member 3 (gene/pseudogene) OR5G3 olfactory receptor, family 5, subfamily G, member 3 (gene/pseudogene) OR5G3P, OR5G6P Yes No Ensembl:ENSG00000241356, GeneCard:OR5G3, HGNC:HGNC:15287, NCBI Gene:81193, RefSeq DNA:NG_002406, RefSeq DNA:NT_033903 No chr11 56586955 56588122 56819479 56820646 +PA32530 81192 HGNC:15288 ENSG00000255485 olfactory receptor, family 5, subfamily G, member 4 pseudogene OR5G4P Yes No Ensembl:ENSG00000255485, GenAtlas:OR5G4P, GeneCard:OR5G4P, HGNC:HGNC:15288, NCBI Gene:81192, RefSeq DNA:NG_004192, RefSeq DNA:NT_167190 No chr11 56557597 56558577 56790121 56791101 +PA32531 81191 HGNC:15289 ENSG00000205025 olfactory receptor, family 5, subfamily G, member 5 pseudogene OR5G5P Yes No Ensembl:ENSG00000205025, GenAtlas:OR5G5P, GeneCard:OR5G5P, HGNC:HGNC:15289, NCBI Gene:81191, RefSeq DNA:NG_004191, RefSeq DNA:NT_167190 No chr11 56569335 56570270 56801859 56802794 +PA32532 26341 HGNC:8346 ENSG00000231192 olfactory receptor family 5 subfamily H member 1 OR5H1 olfactory receptor, family 5, subfamily H, member 1 HSHTPCRX14, HTPCRX14 Yes No Ensembl:ENSG00000231192, GenAtlas:OR5H1, GeneCard:OR5H1, HGNC:HGNC:8346, ModBase:A6NKK0, NCBI Gene:26341, RefSeq DNA:NT_005612, RefSeq Protein:NP_001005338, RefSeq RNA:NM_001005338, UniProtKB:A6NKK0 No chr3 97851542 97852483 98132698 98133639 +PA134948167 403273 HGNC:31286 ENSG00000236032 olfactory receptor family 5 subfamily H member 14 OR5H14 olfactory receptor, family 5, subfamily H, member 14 Yes No Ensembl:ENSG00000236032, GeneCard:OR5H14, HGNC:HGNC:31286, ModBase:A6NHG9, NCBI Gene:403273, RefSeq DNA:NT_005612, RefSeq Protein:NP_001005514, RefSeq RNA:NM_001005514, UniProtKB:A6NHG9 No chr3 97868230 97869162 98149386 98150318 +PA134956122 403274 HGNC:31287 ENSG00000233412 olfactory receptor family 5 subfamily H member 15 OR5H15 olfactory receptor, family 5, subfamily H, member 15 Yes No Ensembl:ENSG00000233412, GeneCard:OR5H15, HGNC:HGNC:31287, ModBase:A6NDH6, NCBI Gene:403274, RefSeq DNA:NT_005612, RefSeq Protein:NP_001005515, RefSeq RNA:NM_001005515, UniProtKB:A6NDH6 No chr3 97887544 97888485 98168700 98169641 +PA32533 79310 HGNC:14752 ENSG00000197938 olfactory receptor family 5 subfamily H member 2 OR5H2 olfactory receptor, family 5, subfamily H, member 2 Yes No Ensembl:ENSG00000197938, GenAtlas:OR5H2, GeneCard:OR5H2, HGNC:HGNC:14752, ModBase:Q8NGV7, NCBI Gene:79310, RefSeq DNA:NT_005612, RefSeq Protein:NP_001005482, RefSeq RNA:NM_001005482, UniProtKB:Q8NGV7 No chr3 98001732 98002676 98282888 98283832 +PA32534 79309 HGNC:14753 ENSG00000249975 olfactory receptor, family 5, subfamily H, member 3 pseudogene OR5H3P Yes No Ensembl:ENSG00000249975, GenAtlas:OR5H3P, GeneCard:OR5H3P, HGNC:HGNC:14753, NCBI Gene:79309, RefSeq DNA:NG_002237, RefSeq DNA:NT_005612 No chr3 97926267 97927185 98207423 98208341 +PA32535 79299 HGNC:14763 ENSG00000248507 olfactory receptor, family 5, subfamily H, member 4 pseudogene OR5H4P Yes No Ensembl:ENSG00000248507, GenAtlas:OR5H4P, GeneCard:OR5H4P, HGNC:HGNC:14763, NCBI Gene:79299, RefSeq DNA:NG_002231, RefSeq DNA:NT_005612 No chr3 97940883 97941810 98222039 98222966 +PA32536 79297 HGNC:14765 ENSG00000249321 olfactory receptor, family 5, subfamily H, member 5 pseudogene OR5H5P Yes No Ensembl:ENSG00000249321, GenAtlas:OR5H5P, GeneCard:OR5H5P, HGNC:HGNC:14765, NCBI Gene:79297, RefSeq DNA:NG_002230, RefSeq DNA:NT_005612 No chr3 97916055 97916982 98197211 98198138 +PA32537 79295 HGNC:14767 ENSG00000230301 olfactory receptor family 5 subfamily H member 6 OR5H6 """olfactory receptor family 5 subfamily H member 6 (gene/pseudogene)"", ""olfactory receptor, family 5, subfamily H, member 6"", ""olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)""" Yes No Ensembl:ENSG00000230301, GenAtlas:OR5H6, GeneCard:OR5H6, HGNC:HGNC:14767, ModBase:Q8NGV6, NCBI Gene:79295, RefSeq DNA:NT_005612, RefSeq Protein:NP_001005479, RefSeq RNA:NM_001005479, UniProtKB:Q8NGV6 No chr3 97983129 97984106 98263260 98265262 +PA32538 79291 HGNC:14771 ENSG00000187900 olfactory receptor, family 5, subfamily H, member 7 pseudogene OR5H7P Yes No Ensembl:ENSG00000187900, GenAtlas:OR5H7P, GeneCard:OR5H7P, HGNC:HGNC:14771, NCBI Gene:79291, RefSeq DNA:NG_002228, RefSeq DNA:NT_005612 No chr3 97957196 97958122 98238352 98239278 +PA32539 79289 HGNC:14773 ENSG00000232535 olfactory receptor family 5 subfamily H member 8 (gene/pseudogene) OR5H8 """olfactory receptor, family 5, subfamily H, member 8 (gene/pseudogene)"", ""olfactory receptor, family 5, subfamily H, member 8 pseudogene""" OR5H8P Yes No Ensembl:ENSG00000232535, GenAtlas:OR5H8P, GeneCard:OR5H8P, HGNC:HGNC:14773, NCBI Gene:79289, RefSeq DNA:NG_002227, RefSeq DNA:NT_005612 No chr3 98030757 98031684 98311913 98312840 +PA32540 10798 HGNC:8347 ENSG00000167825 olfactory receptor family 5 subfamily I member 1 OR5I1 olfactory receptor, family 5, subfamily I, member 1 HSOlf1, OLF1 Yes No Ensembl:ENSG00000167825, GenAtlas:OR5I1, GeneCard:OR5I1, HGNC:HGNC:8347, HumanCyc Gene:HS09647, ModBase:Q13606, NCBI Gene:10798, OMIM:608496, RefSeq DNA:NT_167190, RefSeq Protein:NP_006628, RefSeq RNA:NM_006637, UCSC Genome Browser:NM_006637, UniProtKB:Q13606 No chr11 55702932 55703876 55935456 55936400 +PA32541 401687 HGNC:8348 ENSG00000181780 olfactory receptor, family 5, subfamily J, member 1 pseudogene OR5J1P HTPCRH02 Yes No Ensembl:ENSG00000181780, GenAtlas:OR5J1P, GeneCard:OR5J1P, HGNC:HGNC:8348, NCBI Gene:401687, RefSeq DNA:NG_004086, RefSeq DNA:NT_167190 No chr11 55838587 55839522 56071111 56072046 +PA134982020 282775 HGNC:19612 ENSG00000174957 olfactory receptor family 5 subfamily J member 2 OR5J2 olfactory receptor, family 5, subfamily J, member 2 Yes No Ensembl:ENSG00000174957, GeneCard:OR5J2, HGNC:HGNC:19612, ModBase:Q8NH18, NCBI Gene:282775, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005492, RefSeq RNA:NM_001005492, UniProtKB:Q8NH18 No chr11 55944094 55945032 56176618 56177556 +PA134868284 403276 HGNC:31289 ENSG00000255217 olfactory receptor, family 5, subfamily J, member 7 pseudogene OR5J7P Yes No Ensembl:ENSG00000255217, GeneCard:OR5J7P, HGNC:HGNC:31289, NCBI Gene:403276, RefSeq DNA:NG_004428, RefSeq DNA:NT_167190 No chr11 55932977 55933398 56165501 56165922 +PA32542 26339 HGNC:8349 ENSG00000232382 olfactory receptor family 5 subfamily K member 1 OR5K1 olfactory receptor, family 5, subfamily K, member 1 HSHTPCRX10, HTPCRX10 Yes No Ensembl:ENSG00000232382, GenAtlas:OR5K1, GeneCard:OR5K1, HGNC:HGNC:8349, ModBase:Q8NHB7, NCBI Gene:26339, RefSeq DNA:NT_005612, RefSeq Protein:NP_001004736, RefSeq RNA:NM_001004736, UniProtKB:B9EGY5 No chr3 98188421 98189372 98469480 98470576 +PA32543 402135 HGNC:14774 ENSG00000231861 olfactory receptor family 5 subfamily K member 2 OR5K2 olfactory receptor, family 5, subfamily K, member 2 Yes No Ensembl:ENSG00000231861, GenAtlas:OR5K2, GeneCard:OR5K2, HGNC:HGNC:14774, ModBase:Q8NHB8, NCBI Gene:402135, RefSeq DNA:NT_005612, RefSeq Protein:NP_001004737, RefSeq RNA:NM_001004737, UniProtKB:Q8NHB8 No chr3 98216525 98217475 98497681 98498631 +PA134984948 403277 HGNC:31290 ENSG00000206536 olfactory receptor family 5 subfamily K member 3 OR5K3 olfactory receptor, family 5, subfamily K, member 3 Yes No Ensembl:ENSG00000206536, GeneCard:OR5K3, HGNC:HGNC:31290, ModBase:A6NET4, NCBI Gene:403277, RefSeq DNA:NT_005612, RefSeq Protein:NP_001005516, RefSeq RNA:NM_001005516, UniProtKB:A6NET4 No chr3 98109510 98110475 98390666 98391631 +PA134945625 403278 HGNC:31291 ENSG00000196098 olfactory receptor family 5 subfamily K member 4 OR5K4 olfactory receptor, family 5, subfamily K, member 4 Yes No Ensembl:ENSG00000196098, GeneCard:OR5K4, HGNC:HGNC:31291, ModBase:A6NMS3, NCBI Gene:403278, RefSeq DNA:NT_005612, RefSeq Protein:NP_001005517, RefSeq RNA:NM_001005517, UniProtKB:A6NMS3 No chr3 98072698 98073663 98353854 98354819 +PA32544 219437 HGNC:8350 ENSG00000279395 olfactory receptor family 5 subfamily L member 1 OR5L1 """olfactory receptor family 5 subfamily L member 1 (gene/pseudogene)"", ""olfactory receptor, family 5, subfamily L, member 1""" OST262 Yes No Ensembl:ENSG00000279395, GenAtlas:OR5L1, GeneCard:OR5L1, HGNC:HGNC:8350, ModBase:Q8NGL2, NCBI Gene:219437, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004738, RefSeq RNA:NM_001004738, UniProtKB:Q8NGL2 No chr11 55578943 55579878 55811467 55812402 +PA32545 26338 HGNC:8351 ENSG00000205030 olfactory receptor family 5 subfamily L member 2 OR5L2 olfactory receptor, family 5, subfamily L, member 2 HSHTPCRX16, HTPCRX16 Yes No Ensembl:ENSG00000205030, GenAtlas:OR5L2, GeneCard:OR5L2, HGNC:HGNC:8351, ModBase:Q8NGL0, NCBI Gene:26338, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004739, RefSeq RNA:NM_001004739, UniProtKB:Q8NGL0 No chr11 55594695 55595630 55827219 55828154 +PA32546 390168 HGNC:8352 ENSG00000255012 olfactory receptor family 5 subfamily M member 1 OR5M1 olfactory receptor, family 5, subfamily M, member 1 OST050 Yes No Ensembl:ENSG00000255012, GenAtlas:OR5M1, GeneCard:OR5M1, HGNC:HGNC:8352, ModBase:Q8NGP8, NCBI Gene:390168, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004740, RefSeq RNA:NM_001004740, UniProtKB:Q8NGP8 No chr11 56380031 56380978 56612555 56613502 +PA32547 390167 HGNC:15290 ENSG00000254834 olfactory receptor family 5 subfamily M member 10 OR5M10 olfactory receptor, family 5, subfamily M, member 10 Yes No Ensembl:ENSG00000254834, GenAtlas:OR5M10, GeneCard:OR5M10, HGNC:HGNC:15290, ModBase:Q6IEU7, NCBI Gene:390167, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004741, RefSeq RNA:NM_001004741, UniProtKB:Q6IEU7 No chr11 56344250 56345197 56576774 56577721 +PA32548 219487 HGNC:15291 ENSG00000255223 olfactory receptor family 5 subfamily M member 11 OR5M11 olfactory receptor, family 5, subfamily M, member 11 OR11-199 Yes No Ensembl:ENSG00000255223, GenAtlas:OR5M11, GeneCard:OR5M11, HGNC:HGNC:15291, ModBase:Q96RB7, NCBI Gene:219487, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005245, RefSeq RNA:NM_001005245, UniProtKB:Q96RB7 No chr11 56309816 56310733 56542340 56543257 +PA32549 81188 HGNC:15292 ENSG00000197866 olfactory receptor, family 5, subfamily M, member 12 pseudogene OR5M12P Yes No Ensembl:ENSG00000197866, GenAtlas:OR5M12P, GeneCard:OR5M12P, HGNC:HGNC:15292, NCBI Gene:81188, RefSeq DNA:NG_004190, RefSeq DNA:NT_167190 No chr11 56396409 56397376 56628933 56629900 +PA32550 81187 HGNC:15293 ENSG00000166693 olfactory receptor, family 5, subfamily M, member 13 pseudogene OR5M13P Yes No Ensembl:ENSG00000166693, GenAtlas:OR5M13P, GeneCard:OR5M13P, HGNC:HGNC:15293, NCBI Gene:81187, RefSeq DNA:NG_002281, RefSeq DNA:NT_167190 No chr11 56364983 56365470 56597507 56597994 +PA32551 81421 HGNC:15057 ENSG00000249081 olfactory receptor, family 5, subfamily M, member 14 pseudogene OR5M14P Yes No Ensembl:ENSG00000249081, GenAtlas:OR5M14P, GeneCard:OR5M14P, HGNC:HGNC:15057, NCBI Gene:81421, RefSeq DNA:NG_004263, RefSeq DNA:NT_006238 No chr4 41725227 41725580 41723210 41723563 +PA32552 79523 HGNC:14803 ENSG00000254752 olfactory receptor, family 5, subfamily M, member 2 pseudogene OR5M2P Yes No Ensembl:ENSG00000254752, GenAtlas:OR5M2P, GeneCard:OR5M2P, HGNC:HGNC:14803, NCBI Gene:79523, RefSeq DNA:NG_004154, RefSeq DNA:NT_167190 No chr11 56246967 56247902 56479491 56480426 +PA32553 219482 HGNC:14806 ENSG00000174937 olfactory receptor family 5 subfamily M member 3 OR5M3 olfactory receptor, family 5, subfamily M, member 3 Yes No Ensembl:ENSG00000174937, GenAtlas:OR5M3, GeneCard:OR5M3, HGNC:HGNC:14806, ModBase:Q8NGP4, NCBI Gene:219482, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004742, RefSeq RNA:NM_001004742, UniProtKB:Q8NGP4 No chr11 56236964 56238014 56469488 56470538 +PA32554 79518 HGNC:14808 ENSG00000230416 olfactory receptor, family 5, subfamily M, member 4 pseudogene OR5M4P Yes No Ensembl:ENSG00000230416, GenAtlas:OR5M4P, GeneCard:OR5M4P, HGNC:HGNC:14808, NCBI Gene:79518, RefSeq DNA:NG_004152, RefSeq DNA:NT_167190 No chr11 56216145 56217069 56448669 56449593 +PA32555 390166 HGNC:14810 ENSG00000185701 olfactory receptor, family 5, subfamily M, member 5 pseudogene OR5M5P Yes No Ensembl:ENSG00000185701, GenAtlas:OR5M5P, GeneCard:OR5M5P, HGNC:HGNC:14810, NCBI Gene:390166, RefSeq DNA:NG_004151, RefSeq DNA:NT_167190 No chr11 56294043 56294978 56526567 56527502 +PA32556 79512 HGNC:14814 ENSG00000254603 olfactory receptor, family 5, subfamily M, member 6 pseudogene OR5M6P Yes No Ensembl:ENSG00000254603, GenAtlas:OR5M6P, GeneCard:OR5M6P, HGNC:HGNC:14814, NCBI Gene:79512, RefSeq DNA:NG_004150, RefSeq DNA:NT_167190 No chr11 56279710 56280646 56512234 56513170 +PA32557 79508 HGNC:14818 ENSG00000254490 olfactory receptor, family 5, subfamily M, member 7 pseudogene OR5M7P Yes No Ensembl:ENSG00000254490, GenAtlas:OR5M7P, GeneCard:OR5M7P, HGNC:HGNC:14818, NCBI Gene:79508, RefSeq DNA:NG_004149, RefSeq DNA:NT_167190 No chr11 56267775 56268746 56500299 56501270 +PA32558 219484 HGNC:14846 ENSG00000181371 olfactory receptor family 5 subfamily M member 8 OR5M8 olfactory receptor, family 5, subfamily M, member 8 Yes No Ensembl:ENSG00000181371, GenAtlas:OR5M8, GeneCard:OR5M8, HGNC:HGNC:14846, ModBase:Q8NGP6, NCBI Gene:219484, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005282, RefSeq RNA:NM_001005282, UniProtKB:Q8NGP6 No chr11 56257911 56258846 56490435 56491370 +PA32559 390162 HGNC:15294 ENSG00000150269 olfactory receptor family 5 subfamily M member 9 OR5M9 olfactory receptor, family 5, subfamily M, member 9 Yes No Ensembl:ENSG00000150269, GenAtlas:OR5M9, GeneCard:OR5M9, HGNC:HGNC:15294, ModBase:Q8NGP3, NCBI Gene:390162, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004743, RefSeq RNA:NM_001004743, UniProtKB:Q8NGP3 No chr11 56229945 56230877 56462469 56463401 +PA32560 79283 HGNC:14779 ENSG00000166408 olfactory receptor, family 5, subfamily P, member 1 pseudogene OR5P1P Yes No Ensembl:ENSG00000166408, GenAtlas:OR5P1P, GeneCard:OR5P1P, HGNC:HGNC:14779, NCBI Gene:79283, RefSeq DNA:NG_004139, RefSeq DNA:NT_009237 No chr11 7794440 7795361 7772893 7773814 +PA32561 120065 HGNC:14783 ENSG00000183303 olfactory receptor family 5 subfamily P member 2 OR5P2 olfactory receptor, family 5, subfamily P, member 2 JCG3 Yes No Ensembl:ENSG00000183303, GenAtlas:OR5P2, GeneCard:OR5P2, HGNC:HGNC:14783, ModBase:Q8WZ92, NCBI Gene:120065, RefSeq DNA:NT_009237, RefSeq Protein:NP_703145, RefSeq RNA:NM_153444, UniProtKB:Q8WZ92 No chr11 7817521 7818489 7795974 7796942 +PA32562 120066 HGNC:14784 ENSG00000182334 olfactory receptor family 5 subfamily P member 3 OR5P3 olfactory receptor, family 5, subfamily P, member 3 JCG1 Yes No Ensembl:ENSG00000182334, GenAtlas:OR5P3, GeneCard:OR5P3, HGNC:HGNC:14784, ModBase:Q8WZ94, NCBI Gene:120066, RefSeq DNA:NT_009237, RefSeq Protein:NP_703146, RefSeq RNA:NM_153445, UniProtKB:Q8WZ94 No chr11 7846584 7847519 7825037 7825972 +PA32563 81185 HGNC:15295 ENSG00000227892 olfactory receptor, family 5, subfamily P, member 4 pseudogene OR5P4P OST730 Yes No Ensembl:ENSG00000227892, GenAtlas:OR5P4P, GeneCard:OR5P4P, HGNC:HGNC:15295, NCBI Gene:81185, RefSeq DNA:NG_004189, RefSeq DNA:NT_009237 No chr11 7767538 7768457 7745991 7746910 +PA32565 391496 HGNC:15040 ENSG00000213048 olfactory receptor, family 5, subfamily S, member 1 pseudogene OR5S1P Yes No Ensembl:ENSG00000213048, GenAtlas:OR5S1P, GeneCard:OR5S1P, HGNC:HGNC:15040, NCBI Gene:391496, RefSeq DNA:NG_004369, RefSeq DNA:NT_005416 No chr2 241048519 241049466 240109102 240110049 +PA32566 390155 HGNC:14821 ENSG00000181698 olfactory receptor family 5 subfamily T member 1 OR5T1 olfactory receptor, family 5, subfamily T, member 1 OR5T1P Yes No Ensembl:ENSG00000181698, GenAtlas:OR5T1, GeneCard:OR5T1, HGNC:HGNC:14821, ModBase:Q8NG75, NCBI Gene:390155, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004745, RefSeq RNA:NM_001004745, UniProtKB:Q8NG75 No chr11 56043115 56044095 56275639 56276619 +PA32567 219464 HGNC:15296 ENSG00000181718 olfactory receptor family 5 subfamily T member 2 OR5T2 olfactory receptor, family 5, subfamily T, member 2 Yes No Ensembl:ENSG00000181718, GenAtlas:OR5T2, GeneCard:OR5T2, HGNC:HGNC:15296, ModBase:Q8NGG2, NCBI Gene:219464, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004746, RefSeq RNA:NM_001004746, UniProtKB:Q8NGG2 No chr11 55999582 56000661 56232106 56233185 +PA32568 390154 HGNC:15297 ENSG00000172489 olfactory receptor family 5 subfamily T member 3 OR5T3 olfactory receptor, family 5, subfamily T, member 3 OR5T3Q Yes No Ensembl:ENSG00000172489, GenAtlas:OR5T3, GeneCard:OR5T3, HGNC:HGNC:15297, ModBase:Q8NGG3, NCBI Gene:390154, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004747, RefSeq RNA:NM_001004747, UniProtKB:Q8NGG3 No chr11 56019676 56020698 56252200 56253222 +PA32570 81696 HGNC:13972 ENSG00000233046, ENSG00000243441, ENSG00000243729 olfactory receptor family 5 subfamily V member 1 OR5V1 olfactory receptor, family 5, subfamily V, member 1 hs6M1-21 Yes No Ensembl:ENSG00000233046, Ensembl:ENSG00000243441, Ensembl:ENSG00000243729, GenAtlas:OR5V1, GeneCard:OR5V1, HGNC:HGNC:13972, HumanCyc Gene:HS03572, ModBase:Q9UGF6, NCBI Gene:81696, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167249, RefSeq Protein:NP_110503, RefSeq RNA:NM_030876, UCSC Genome Browser:NM_030876, UniProtKB:Q9UGF6 No chr6 29323007 29324054 29355211 29457067 +PA32571 81182 HGNC:15298 ENSG00000227806 olfactory receptor, family 5, subfamily W, member 1 pseudogene OR5W1P Yes No Ensembl:ENSG00000227806, GenAtlas:OR5W1P, GeneCard:OR5W1P, HGNC:HGNC:15298, NCBI Gene:81182, RefSeq DNA:NG_004188, RefSeq DNA:NT_167190 No chr11 55670819 55671621 55903343 55904145 +PA32572 390148 HGNC:15299 ENSG00000187612 olfactory receptor family 5 subfamily W member 2 OR5W2 olfactory receptor, family 5, subfamily W, member 2 OR5W2P, OR5W3P Yes No Ensembl:ENSG00000187612, GenAtlas:OR5W2, GeneCard:OR5W2, HGNC:HGNC:15299, ModBase:Q8NH69, NCBI Gene:390148, RefSeq DNA:NT_167190, RefSeq Protein:NP_001001960, RefSeq RNA:NM_001001960, UniProtKB:Q8NGL4, UniProtKB:Q8NH69 No chr11 55681126 55682058 55913650 55914582 +PA32574 8590 HGNC:15301 ENSG00000184933 olfactory receptor family 6 subfamily A member 2 OR6A2 olfactory receptor, family 6, subfamily A, member 2 OR11-55, OR6A1, OR6A2P Yes No Ensembl:ENSG00000184933, GenAtlas:OR6A2, GeneCard:OR6A2, HGNC:HGNC:15301, ModBase:O95222, NCBI Gene:8590, OMIM:608495, RefSeq DNA:NT_009237, RefSeq Protein:NP_003687, RefSeq RNA:NM_003696, UCSC Genome Browser:NM_003696, UniProtKB:O95222 No chr11 6815756 6817139 6794525 6795908 +PA32576 135946 HGNC:8354 ENSG00000221813 olfactory receptor family 6 subfamily B member 1 OR6B1 olfactory receptor, family 6, subfamily B, member 1 OR7-3 Yes No Ensembl:ENSG00000221813, GenAtlas:OR6B1, GeneCard:OR6B1, HGNC:HGNC:8354, ModBase:O95007, NCBI Gene:135946, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001005281, RefSeq RNA:NM_001005281, UniProtKB:O95007 No chr7 143701090 143702025 144003997 144004932 +PA32577 389090 HGNC:15041 ENSG00000182083 olfactory receptor family 6 subfamily B member 2 OR6B2 olfactory receptor, family 6, subfamily B, member 2 OR6B2P Yes No Ensembl:ENSG00000182083, GenAtlas:OR6B2, GeneCard:OR6B2, HGNC:HGNC:15041, ModBase:Q6IFH4, NCBI Gene:389090, RefSeq DNA:NT_005416, RefSeq Protein:NP_001005853, RefSeq RNA:NM_001005853, UniProtKB:Q6IFH4 No chr2 240968382 240972324 240029491 240030429 +PA32578 150681 HGNC:15042 ENSG00000178586 olfactory receptor family 6 subfamily B member 3 OR6B3 olfactory receptor, family 6, subfamily B, member 3 OR6B3P, OR6B3Q Yes No Ensembl:ENSG00000178586, GeneCard:OR6B3, HGNC:HGNC:15042, ModBase:Q8NGW1, NCBI Gene:150681, RefSeq DNA:NT_005416, RefSeq Protein:NP_775486, RefSeq RNA:NM_173351, UniProtKB:Q8NGW1 No chr2 240984494 240985489 240044611 240053722 +PA32579 390321 HGNC:8355 ENSG00000205330 olfactory receptor family 6 subfamily C member 1 OR6C1 olfactory receptor, family 6, subfamily C, member 1 OST267 Yes No Ensembl:ENSG00000205330, GenAtlas:OR6C1, GeneCard:OR6C1, HGNC:HGNC:8355, ModBase:Q96RD1, NCBI Gene:390321, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005182, RefSeq RNA:NM_001005182, UniProtKB:Q96RD1 No chr12 55714384 55715322 55320600 55321538 +PA32580 341416 HGNC:15436 ENSG00000179695 olfactory receptor family 6 subfamily C member 2 OR6C2 olfactory receptor, family 6, subfamily C, member 2 OR6C67 Yes No Ensembl:ENSG00000179695, GenAtlas:OR6C2, GeneCard:OR6C2, HGNC:HGNC:15436, ModBase:Q9NZP2, NCBI Gene:341416, RefSeq DNA:NT_029419, RefSeq Protein:NP_473446, RefSeq Protein:XP_002347373, RefSeq RNA:NM_054105, RefSeq RNA:XM_002347332, UniProtKB:Q9NZP2 No chr12 55845998 55846936 55452214 55453152 +PA32581 254786 HGNC:15437 ENSG00000205329 olfactory receptor family 6 subfamily C member 3 OR6C3 olfactory receptor, family 6, subfamily C, member 3 OST709 Yes No Ensembl:ENSG00000205329, GenAtlas:OR6C3, GeneCard:OR6C3, HGNC:HGNC:15437, ModBase:Q9NZP0, NCBI Gene:254786, RefSeq DNA:NT_029419, RefSeq Protein:NP_473445, RefSeq RNA:NM_054104, UniProtKB:Q9NZP0 No chr12 55725485 55726420 55331701 55332636 +PA134970819 341418 HGNC:19632 ENSG00000179626 olfactory receptor family 6 subfamily C member 4 OR6C4 olfactory receptor, family 6, subfamily C, member 4 Yes No Ensembl:ENSG00000179626, GeneCard:OR6C4, HGNC:HGNC:19632, ModBase:Q8NGE1, NCBI Gene:341418, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005494, RefSeq RNA:NM_001005494, UniProtKB:Q8NGE1 No chr12 55945011 55945940 55551227 55552156 +PA134946051 390320 HGNC:31292 ENSG00000230307 olfactory receptor, family 6, subfamily C, member 5 pseudogene OR6C5P Yes No Ensembl:ENSG00000230307, GeneCard:OR6C5P, HGNC:HGNC:31292, NCBI Gene:390320, RefSeq DNA:NG_004345, RefSeq DNA:NT_029419 No chr12 55705619 55706541 55311835 55312757 +PA134937223 283365 HGNC:31293 ENSG00000188324 olfactory receptor family 6 subfamily C member 6 OR6C6 olfactory receptor, family 6, subfamily C, member 6 Yes No Ensembl:ENSG00000188324, GeneCard:OR6C6, HGNC:HGNC:31293, ModBase:A6NF89, NCBI Gene:283365, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005493, RefSeq RNA:NM_001005493, UniProtKB:A6NF89 No chr12 55688072 55689016 55294288 55295232 +PA134916910 403281 HGNC:31294 ENSG00000234670 olfactory receptor, family 6, subfamily C, member 64 pseudogene OR6C64P Yes No Ensembl:ENSG00000234670, GeneCard:OR6C64P, HGNC:HGNC:31294, NCBI Gene:403281, RefSeq DNA:NG_004429, RefSeq DNA:NT_029419 No chr12 55916377 55917255 55522593 55523471 +PA134924624 403282 HGNC:31295 ENSG00000205328 olfactory receptor family 6 subfamily C member 65 OR6C65 olfactory receptor, family 6, subfamily C, member 65 Yes No Ensembl:ENSG00000205328, GeneCard:OR6C65, HGNC:HGNC:31295, ModBase:A6NJZ3, NCBI Gene:403282, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005518, RefSeq RNA:NM_001005518, UniProtKB:A6NJZ3 No chr12 55794313 55795251 55400529 55401467 +PA134917622 403283 HGNC:31296 ENSG00000233606 olfactory receptor, family 6, subfamily C, member 66 pseudogene OR6C66P Yes No Ensembl:ENSG00000233606, GeneCard:OR6C66P, HGNC:HGNC:31296, NCBI Gene:403283, RefSeq DNA:NG_004430, RefSeq DNA:NT_029419 No chr12 55782229 55783161 55388445 55389377 +PA134911831 403284 HGNC:31297 ENSG00000205327 olfactory receptor family 6 subfamily C member 68 OR6C68 olfactory receptor, family 6, subfamily C, member 68 Yes No Ensembl:ENSG00000205327, GeneCard:OR6C68, HGNC:HGNC:31297, ModBase:A6NDL8, NCBI Gene:403284, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005519, RefSeq RNA:NM_001005519, UniProtKB:A6NDL8 No chr12 55886162 55887100 55492378 55493316 +PA134873228 403285 HGNC:31298 ENSG00000213451 olfactory receptor, family 6, subfamily C, member 69 pseudogene OR6C69P Yes No Ensembl:ENSG00000213451, GeneCard:OR6C69P, HGNC:HGNC:31298, NCBI Gene:403285, RefSeq DNA:NG_004431, RefSeq DNA:NT_029419 No chr12 55656323 55657218 55262539 55263434 +PA134915898 390327 HGNC:31299 ENSG00000184954 olfactory receptor family 6 subfamily C member 70 OR6C70 olfactory receptor, family 6, subfamily C, member 70 Yes No Ensembl:ENSG00000184954, GeneCard:OR6C70, HGNC:HGNC:31299, ModBase:A6NIJ9, NCBI Gene:390327, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005499, RefSeq RNA:NM_001005499, UniProtKB:A6NIJ9 No chr12 55862984 55863922 55469200 55470138 +PA134982019 390324 HGNC:31300 ENSG00000203408 olfactory receptor, family 6, subfamily C, member 71 pseudogene OR6C71P Yes No Ensembl:ENSG00000203408, GeneCard:OR6C71P, HGNC:HGNC:31300, NCBI Gene:390324, RefSeq DNA:NG_004347, RefSeq DNA:NT_029419 No chr12 55770584 55771519 55376800 55377735 +PA134926850 403288 HGNC:31301 ENSG00000205331 olfactory receptor, family 6, subfamily C, member 72 pseudogene OR6C72P Yes No Ensembl:ENSG00000205331, GeneCard:OR6C72P, HGNC:HGNC:31301, NCBI Gene:403288, RefSeq DNA:NG_004432, RefSeq DNA:NT_029419 No chr12 55677534 55678467 55283750 55284683 +PA134961177 403289 HGNC:31302 ENSG00000257414 olfactory receptor, family 6, subfamily C, member 73 pseudogene OR6C73P Yes No Ensembl:ENSG00000257414, GeneCard:OR6C73P, HGNC:HGNC:31302, NCBI Gene:403289, RefSeq DNA:NG_004433, RefSeq DNA:NT_029419 No chr12 55790060 55791057 55396276 55397273 +PA134897737 254783 HGNC:31303 ENSG00000197706 olfactory receptor family 6 subfamily C member 74 OR6C74 olfactory receptor, family 6, subfamily C, member 74 Yes No Ensembl:ENSG00000197706, GeneCard:OR6C74, HGNC:HGNC:31303, ModBase:A6NCV1, NCBI Gene:254783, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005490, RefSeq RNA:NM_001005490, UniProtKB:A6NCV1 No chr12 55641072 55642010 55244114 55248226 +PA134873229 390323 HGNC:31304 ENSG00000187857 olfactory receptor family 6 subfamily C member 75 OR6C75 olfactory receptor, family 6, subfamily C, member 75 Yes No Ensembl:ENSG00000187857, GeneCard:OR6C75, HGNC:HGNC:31304, ModBase:A6NL08, NCBI Gene:390323, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005497, RefSeq RNA:NM_001005497, UniProtKB:A6NL08 No chr12 55758895 55759833 55365111 55366049 +PA134906466 390326 HGNC:31305 ENSG00000185821 olfactory receptor family 6 subfamily C member 76 OR6C76 olfactory receptor, family 6, subfamily C, member 76 Yes No Ensembl:ENSG00000185821, GeneCard:OR6C76, HGNC:HGNC:31305, ModBase:A6NM76, NCBI Gene:390326, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005183, RefSeq RNA:NM_001005183, UniProtKB:A6NM76 No chr12 55820038 55820976 55426254 55427192 +PA134954730 390322 HGNC:31306 ENSG00000257757 olfactory receptor, family 6, subfamily C, member 7 pseudogene OR6C7P Yes No Ensembl:ENSG00000257757, GeneCard:OR6C7P, HGNC:HGNC:31306, NCBI Gene:390322, RefSeq DNA:NG_004346, RefSeq DNA:NT_029419 No chr12 55736622 55737560 55342838 55343776 +PA32582 220974 HGNC:14849 ENSG00000224402 olfactory receptor, family 6, subfamily D, member 1 pseudogene OR6D1P Yes No Ensembl:ENSG00000224402, GenAtlas:OR6D1P, GeneCard:OR6D1P, HGNC:HGNC:14849, NCBI Gene:220974, RefSeq DNA:NG_004293, RefSeq DNA:NT_033985 No chr10 45753757 45754569 45258309 45259121 +PA32584 79323 HGNC:14739 ENSG00000235213 olfactory receptor, family 6, subfamily E, member 1 pseudogene OR6E1P Yes No Ensembl:ENSG00000235213, GenAtlas:OR6E1P, GeneCard:OR6E1P, HGNC:HGNC:14739, NCBI Gene:79323, RefSeq DNA:NG_002244, RefSeq DNA:NT_026437 No chr14 23171353 23172278 22702144 22703069 +PA32585 343169 HGNC:15027 ENSG00000169214 olfactory receptor family 6 subfamily F member 1 OR6F1 olfactory receptor, family 6, subfamily F, member 1 OST731 Yes No Ensembl:ENSG00000169214, GenAtlas:OR6F1, GeneCard:OR6F1, HGNC:HGNC:15027, ModBase:Q8NGZ6, NCBI Gene:343169, RefSeq DNA:NT_167186, RefSeq Protein:NP_001005286, RefSeq RNA:NM_001005286, UniProtKB:Q8NGZ6 No chr1 247875131 247876057 247711829 247712755 +PA32586 79549 HGNC:14707 ENSG00000255804 olfactory receptor family 6 subfamily J member 1 OR6J1 """olfactory receptor family 6 subfamily J member 1 (gene/pseudogene)"", ""olfactory receptor, family 6, subfamily J, member 1 (gene/pseudogene)""" OR6J1P, OR6J2 Yes No Ensembl:ENSG00000255804, GenAtlas:OR6J1, GeneCard:OR6J1, HGNC:HGNC:14707, ModBase:Q8NGC5, NCBI Gene:79549, RefSeq DNA:NG_002274, RefSeq DNA:NT_026437 No chr14 23102660 23103649 22633755 22634744 +PA32588 81449 HGNC:15028 ENSG00000231237 olfactory receptor, family 6, subfamily K, member 1 pseudogene OR6K1P Yes No Ensembl:ENSG00000231237, GenAtlas:OR6K1P, GeneCard:OR6K1P, HGNC:HGNC:15028, NCBI Gene:81449, RefSeq DNA:NG_004271, RefSeq DNA:NT_004487 No chr1 158664329 158665299 158694539 158695509 +PA32589 81448 HGNC:15029 ENSG00000196171 olfactory receptor family 6 subfamily K member 2 OR6K2 olfactory receptor, family 6, subfamily K, member 2 Yes No Ensembl:ENSG00000196171, GenAtlas:OR6K2, GeneCard:OR6K2, HGNC:HGNC:15029, ModBase:Q8NGY2, NCBI Gene:81448, RefSeq DNA:NT_004487, RefSeq Protein:NP_001005279, RefSeq RNA:NM_001005279, UniProtKB:Q8NGY2 No chr1 158669468 158670442 158699678 158700652 +PA32590 391114 HGNC:15030 ENSG00000203757 olfactory receptor family 6 subfamily K member 3 OR6K3 olfactory receptor, family 6, subfamily K, member 3 Yes No Ensembl:ENSG00000203757, GenAtlas:OR6K3, GeneCard:OR6K3, HGNC:HGNC:15030, ModBase:Q8NGY3, NCBI Gene:391114, RefSeq DNA:NT_004487, RefSeq Protein:NP_001005327, RefSeq RNA:NM_001005327, UniProtKB:Q8NGY3 No chr1 158686958 158687905 158717168 158718115 +PA32591 128370 HGNC:15031 ENSG00000180437 olfactory receptor, family 6, subfamily K, member 4 pseudogene OR6K4P Yes No Ensembl:ENSG00000180437, GenAtlas:OR6K4P, GeneCard:OR6K4P, HGNC:HGNC:15031, NCBI Gene:128370, RefSeq DNA:NG_004288, RefSeq DNA:NT_004487 No chr1 158693903 158694857 158724113 158725067 +PA32592 391115 HGNC:15032 ENSG00000226949 olfactory receptor, family 6, subfamily K, member 5 pseudogene OR6K5P Yes No Ensembl:ENSG00000226949, GenAtlas:OR6K5P, GeneCard:OR6K5P, HGNC:HGNC:15032, NCBI Gene:391115, RefSeq DNA:NG_004363, RefSeq DNA:NT_004487 No chr1 158712358 158713205 158742568 158743415 +PA32593 128371 HGNC:15033 ENSG00000180433 olfactory receptor family 6 subfamily K member 6 OR6K6 olfactory receptor, family 6, subfamily K, member 6 Yes No Ensembl:ENSG00000180433, GenAtlas:OR6K6, GeneCard:OR6K6, HGNC:HGNC:15033, ModBase:Q8NGW6, NCBI Gene:128371, RefSeq DNA:NT_004487, RefSeq Protein:NP_001005184, RefSeq RNA:NM_001005184, UniProtKB:Q8NGW6 No chr1 158724606 158725637 158754816 158755847 +PA32594 390012 HGNC:15124 ENSG00000233685 olfactory receptor, family 6, subfamily L, member 1 pseudogene OR6L1P Yes No Ensembl:ENSG00000233685, GenAtlas:OR6L1P, GeneCard:OR6L1P, HGNC:HGNC:15124, NCBI Gene:390012, RefSeq DNA:NG_002282, RefSeq DNA:NT_008818 No chr10 135388560 135389639 133575056 133576135 +PA32595 81356 HGNC:15125 ENSG00000273327 olfactory receptor, family 6, subfamily L, member 2 pseudogene OR6L2P Yes No Ensembl:ENSG00000273327, GenAtlas:OR6L2P, GeneCard:OR6L2P, HGNC:HGNC:15125, NCBI Gene:81356, RefSeq DNA:NG_004252, RefSeq DNA:NT_008818 No chr10 135243898 135244822 133430394 133431318 +PA32596 390261 HGNC:14711 ENSG00000196099 olfactory receptor family 6 subfamily M member 1 OR6M1 olfactory receptor, family 6, subfamily M, member 1 Yes No Ensembl:ENSG00000196099, GenAtlas:OR6M1, GeneCard:OR6M1, HGNC:HGNC:14711, ModBase:Q8NGM8, NCBI Gene:390261, RefSeq DNA:NT_033899, RefSeq Protein:NP_001005325, RefSeq RNA:NM_001005325, UniProtKB:Q8NGM8 No chr11 123676116 123677057 123805408 123806349 +PA32597 79546 HGNC:14713 ENSG00000254613 olfactory receptor, family 6, subfamily M, member 2 pseudogene OR6M2P Yes No Ensembl:ENSG00000254613, GenAtlas:OR6M2P, GeneCard:OR6M2P, HGNC:HGNC:14713, NCBI Gene:79546, RefSeq DNA:NG_004155, RefSeq DNA:NT_033899 No chr11 123711666 123712611 123840958 123841903 +PA32598 79321 HGNC:14741 ENSG00000254430 olfactory receptor, family 6, subfamily M, member 3 pseudogene OR6M3P Yes No Ensembl:ENSG00000254430, GenAtlas:OR6M3P, GeneCard:OR6M3P, HGNC:HGNC:14741, NCBI Gene:79321, RefSeq DNA:NG_004140, RefSeq DNA:NT_033899 No chr11 123732389 123733231 123861681 123862523 +PA32599 128372 HGNC:15034 ENSG00000197403 olfactory receptor family 6 subfamily N member 1 OR6N1 olfactory receptor, family 6, subfamily N, member 1 Yes No Ensembl:ENSG00000197403, GenAtlas:OR6N1, GeneCard:OR6N1, HGNC:HGNC:15034, ModBase:Q8NGY5, NCBI Gene:128372, RefSeq DNA:NT_004487, RefSeq Protein:NP_001005185, RefSeq RNA:NM_001005185, UniProtKB:Q8NGY5 No chr1 158735534 158736472 158747733 158840979 +PA32600 81442 HGNC:15035 ENSG00000188340 olfactory receptor family 6 subfamily N member 2 OR6N2 olfactory receptor, family 6, subfamily N, member 2 Yes No Ensembl:ENSG00000188340, GenAtlas:OR6N2, GeneCard:OR6N2, HGNC:HGNC:15035, ModBase:Q8NGY6, NCBI Gene:81442, RefSeq DNA:NT_004487, RefSeq Protein:NP_001005278, RefSeq RNA:NM_001005278, UniProtKB:Q8NGY6 No chr1 158746472 158747425 158776682 158777635 +PA32601 128366 HGNC:15036 ENSG00000186440 olfactory receptor family 6 subfamily P member 1 OR6P1 olfactory receptor, family 6, subfamily P, member 1 Yes No Ensembl:ENSG00000186440, GenAtlas:OR6P1, GeneCard:OR6P1, HGNC:HGNC:15036, ModBase:Q8NGX9, NCBI Gene:128366, RefSeq DNA:NT_004487, RefSeq Protein:NP_001153797, RefSeq RNA:NM_001160325, UniProtKB:Q8NGX9 No chr1 158532441 158533394 158562651 158563604 +PA32602 219952 HGNC:15302 ENSG00000279051 olfactory receptor family 6 subfamily Q member 1 OR6Q1 """olfactory receptor family 6 subfamily Q member 1 (gene/pseudogene)"", ""olfactory receptor, family 6, subfamily Q, member 1""" Yes No Ensembl:ENSG00000279051, GenAtlas:OR6Q1, GeneCard:OR6Q1, HGNC:HGNC:15302, ModBase:Q8NGQ2, NCBI Gene:219952, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005186, RefSeq RNA:NM_001005186, UniProtKB:Q8NGQ2 No chr11 57798425 57799378 58030953 58031906 +PA32603 81440 HGNC:15037 ENSG00000230576 olfactory receptor, family 6, subfamily R, member 1 pseudogene OR6R1P Yes No Ensembl:ENSG00000230576, GenAtlas:OR6R1P, GeneCard:OR6R1P, HGNC:HGNC:15037, NCBI Gene:81440, RefSeq DNA:NG_004270, RefSeq DNA:NT_167186 No chr1 247996619 247997547 247833317 247834245 +PA134912532 403294 HGNC:31307 ENSG00000273484 olfactory receptor, family 6, subfamily R, member 2 pseudogene OR6R2P Yes No Ensembl:ENSG00000273484, GeneCard:OR6R2P, HGNC:HGNC:31307, NCBI Gene:403294, RefSeq DNA:NG_004434, RefSeq DNA:NT_167187 No chr8 21654598 21655408 21797086 21797896 +PA32604 341799 HGNC:15363 ENSG00000181803 olfactory receptor family 6 subfamily S member 1 OR6S1 olfactory receptor, family 6, subfamily S, member 1 OR6S1Q Yes No Ensembl:ENSG00000181803, GenAtlas:OR6S1, GeneCard:OR6S1, HGNC:HGNC:15363, ModBase:Q8NH40, NCBI Gene:341799, RefSeq DNA:NT_026437, RefSeq Protein:NP_001001968, RefSeq RNA:NM_001001968, UniProtKB:Q8NH40 No chr14 21108855 21109850 20640696 20641691 +PA32605 219874 HGNC:14848 ENSG00000181499 olfactory receptor family 6 subfamily T member 1 OR6T1 olfactory receptor, family 6, subfamily T, member 1 Yes No Ensembl:ENSG00000181499, GenAtlas:OR6T1, GeneCard:OR6T1, HGNC:HGNC:14848, ModBase:Q8NGN1, NCBI Gene:219874, RefSeq DNA:NT_033899, RefSeq Protein:NP_001005187, RefSeq RNA:NM_001005187, UniProtKB:Q8NGN1 No chr11 123813574 123814545 123941474 123943844 +PA134894451 390329 HGNC:19631 ENSG00000272937 olfactory receptor, family 6, subfamily U, member 2 pseudogene OR6U2P Yes No Ensembl:ENSG00000272937, GeneCard:OR6U2P, HGNC:HGNC:19631, NCBI Gene:390329, RefSeq DNA:NG_004348, RefSeq DNA:NT_029419 No chr12 56005407 56006338 55611623 55612554 +PA32607 346517 HGNC:15090 ENSG00000225781 olfactory receptor family 6 subfamily V member 1 OR6V1 olfactory receptor, family 6, subfamily V, member 1 GPR138 Yes No Ensembl:ENSG00000225781, GenAtlas:OR6V1, GeneCard:OR6V1, HGNC:HGNC:15090, ModBase:Q8N148, NCBI Gene:346517, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001001667, RefSeq RNA:NM_001001667, UniProtKB:Q8N148 No chr7 142749438 142750379 143052341 143053282 +PA32608 89883 HGNC:15091 ENSG00000179420 olfactory receptor, family 6, subfamily W, member 1 pseudogene OR6W1P sdolf Yes No Ensembl:ENSG00000179420, GenAtlas:OR6W1P, GeneCard:OR6W1P, HGNC:HGNC:15091, HumanCyc Gene:HS11379, NCBI Gene:89883, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq RNA:NR_002140 No chr7 142759381 142760882 143062284 143063785 +PA32609 390260 HGNC:14737 ENSG00000221931 olfactory receptor family 6 subfamily X member 1 OR6X1 olfactory receptor, family 6, subfamily X, member 1 Yes No Ensembl:ENSG00000221931, GenAtlas:OR6X1, GeneCard:OR6X1, HGNC:HGNC:14737, ModBase:Q8NH79, NCBI Gene:390260, RefSeq DNA:NT_033899, RefSeq Protein:NP_001005188, RefSeq RNA:NM_001005188, UniProtKB:Q8NH79 No chr11 123624288 123625226 123753580 123754518 +PA32610 391112 HGNC:14823 ENSG00000197532 olfactory receptor family 6 subfamily Y member 1 OR6Y1 olfactory receptor, family 6, subfamily Y, member 1 OR6Y2 Yes No Ensembl:ENSG00000197532, GenAtlas:OR6Y1, GeneCard:OR6Y1, HGNC:HGNC:14823, ModBase:Q8NGX8, NCBI Gene:391112, RefSeq DNA:NT_004487, RefSeq Protein:NP_001005189, RefSeq RNA:NM_001005189, UniProtKB:Q8NGX8 No chr1 158516918 158517895 158547128 158548105 +PA32611 390892 HGNC:8356 ENSG00000127515 olfactory receptor family 7 subfamily A member 10 OR7A10 olfactory receptor, family 7, subfamily A, member 10 Yes No Ensembl:ENSG00000127515, GenAtlas:OR7A10, GeneCard:OR7A10, HGNC:HGNC:8356, ModBase:O76100, NCBI Gene:390892, RefSeq DNA:NT_011295, RefSeq Protein:NP_001005190, RefSeq RNA:NM_001005190, UniProtKB:O76100 No chr19 14951760 14952689 14840948 14841877 +PA32612 26669 HGNC:8357 ENSG00000198367 olfactory receptor, family 7, subfamily A, member 11 pseudogene OR7A11P OST527 Yes No Ensembl:ENSG00000198367, GenAtlas:OR7A11P, GeneCard:OR7A11P, HGNC:HGNC:8357, NCBI Gene:26669, RefSeq DNA:NG_002215, RefSeq DNA:NT_011295 No chr19 15027226 15028214 14916414 14917402 +PA32615 26335 HGNC:8361 ENSG00000176923 olfactory receptor, family 7, subfamily A, member 15 pseudogene OR7A15P OR19-1, OR19-134, OR19-146 Yes No Ensembl:ENSG00000176923, GenAtlas:OR7A15P, GeneCard:OR7A15P, HGNC:HGNC:8361, NCBI Gene:26335, RefSeq DNA:NG_002311, RefSeq DNA:NT_011295 No chr19 15038124 15038773 14927312 14927961 +PA32616 26333 HGNC:8363 ENSG00000185385 olfactory receptor family 7 subfamily A member 17 OR7A17 olfactory receptor, family 7, subfamily A, member 17 HTPCRX19 Yes No Ensembl:ENSG00000185385, GenAtlas:OR7A17, GeneCard:OR7A17, HGNC:HGNC:8363, ModBase:O14581, NCBI Gene:26333, RefSeq DNA:NT_011295, RefSeq Protein:NP_112163, RefSeq RNA:NM_030901, UCSC Genome Browser:NM_030901, UniProtKB:O14581 No chr19 14991238 14992167 14880426 14881355 +PA32617 81081 HGNC:15399 ENSG00000269678 olfactory receptor, family 7, subfamily A, member 18 pseudogene OR7A18P Yes No Ensembl:ENSG00000269678, GenAtlas:OR7A18P, GeneCard:OR7A18P, HGNC:HGNC:15399, NCBI Gene:81081, RefSeq DNA:NG_002278, RefSeq DNA:NT_011295 No chr19 14997658 14998084 14886846 14887272 +PA32618 387853 HGNC:15337 ENSG00000272963 olfactory receptor, family 7, subfamily A, member 19 pseudogene OR7A19P Yes No Ensembl:ENSG00000272963, GenAtlas:OR7A19P, GeneCard:OR7A19P, HGNC:HGNC:15337, NCBI Gene:387853, RefSeq DNA:NG_004313, RefSeq DNA:NT_029419 No chr12 46986357 46987089 46592574 46593306 +PA32619 390895 HGNC:8364 ENSG00000268834 olfactory receptor, family 7, subfamily A, member 1 pseudogene OR7A1P OLF4p, OR19-3, hg513 Yes No Ensembl:ENSG00000268834, GenAtlas:OR7A1P, GeneCard:OR7A1P, HGNC:HGNC:8364, NCBI Gene:390895, RefSeq DNA:NG_004361, RefSeq DNA:NT_011295 No chr19 15002671 15003616 14891859 14892804 +PA134933471 390894 HGNC:8370 ENSG00000172148 olfactory receptor, family 7, subfamily A, member 2 pseudogene OR7A2P OLF4p, OR19-18, hg1003 Yes No Ensembl:ENSG00000172148, GeneCard:OR7A2P, HGNC:HGNC:8370, ModBase:Q8NGA2, NCBI Gene:390894, RefSeq DNA:NG_004087, RefSeq DNA:NT_011295 No chr19 14974398 14976074 14863586 14865262 +PA32621 26668 HGNC:8366 ENSG00000269787 olfactory receptor, family 7, subfamily A, member 3 pseudogene OR7A3P OR11-7b, OR14-11, OR14-59, OR19-12 Yes No Ensembl:ENSG00000269787, GenAtlas:OR7A3P, GeneCard:OR7A3P, HGNC:HGNC:8366, NCBI Gene:26668, RefSeq DNA:NG_002170, RefSeq DNA:NT_011295 No chr19 15014139 15014785 14903327 14903973 +PA32622 26659 HGNC:8368 ENSG00000188269 olfactory receptor family 7 subfamily A member 5 OR7A5 olfactory receptor, family 7, subfamily A, member 5 HTPCR2 Yes No Ensembl:ENSG00000188269, GenAtlas:OR7A5, GeneCard:OR7A5, HGNC:HGNC:8368, ModBase:Q15622, NCBI Gene:26659, RefSeq DNA:NT_011295, RefSeq Protein:NP_059976, RefSeq RNA:NM_017506, UniProtKB:Q15622 No chr19 14937139 14939276 14825743 14835197 +PA32623 26661 HGNC:8371 ENSG00000269552 olfactory receptor, family 7, subfamily A, member 8 pseudogene OR7A8P HG83, OR19-11, OST042 Yes No Ensembl:ENSG00000269552, GenAtlas:OR7A8P, GeneCard:OR7A8P, HGNC:HGNC:8371, NCBI Gene:26661, RefSeq DNA:NG_003166, RefSeq DNA:NT_011295 No chr19 14962923 14963555 14852111 14852743 +PA32624 26664 HGNC:8373 ENSG00000127530 olfactory receptor family 7 subfamily C member 1 OR7C1 olfactory receptor, family 7, subfamily C, member 1 OR19-5, OR7C4 Yes No Ensembl:ENSG00000127530, GenAtlas:OR7C1, GeneCard:OR7C1, HGNC:HGNC:8373, ModBase:O76099, NCBI Gene:26664, RefSeq DNA:NT_011295, RefSeq Protein:NP_945182, RefSeq RNA:NM_198944, UCSC Genome Browser:NM_017506, UniProtKB:O76099 No chr19 14909943 14946188 14797550 14835376 +PA32625 26658 HGNC:8374 ENSG00000127529 olfactory receptor family 7 subfamily C member 2 OR7C2 olfactory receptor, family 7, subfamily C, member 2 OR19-18, OR7C3 Yes No Ensembl:ENSG00000127529, GenAtlas:OR7C2, GeneCard:OR7C2, HGNC:HGNC:8374, HumanCyc Gene:HS05108, ModBase:O60412, NCBI Gene:26658, RefSeq DNA:NT_011295, RefSeq Protein:NP_036509, RefSeq RNA:NM_012377, UCSC Genome Browser:NM_012377, UniProtKB:O60412 No chr19 15052301 15053260 14941489 14942448 +PA134904730 403295 HGNC:31308 olfactory receptor, family 7, subfamily D, member 11 pseudogene OR7D11P Yes No GeneCard:OR7D11P, HGNC:HGNC:31308, NCBI Gene:403295, RefSeq DNA:NG_005822, RefSeq DNA:NT_011295 No chr19 9326864 9327065 9216188 9216389 +PA32626 26656 HGNC:8377 ENSG00000188314 olfactory receptor, family 7, subfamily D, member 1 pseudogene OR7D1P OR19-A Yes No Ensembl:ENSG00000188314, GenAtlas:OR7D1P, GeneCard:OR7D1P, HGNC:HGNC:8377, NCBI Gene:26656, RefSeq DNA:NG_002212, RefSeq DNA:NT_011295 No chr19 9346020 9346668 9235344 9235992 +PA32627 162998 HGNC:8378 ENSG00000188000 olfactory receptor family 7 subfamily D member 2 OR7D2 olfactory receptor, family 7, subfamily D, member 2 FLJ38149, HTPCRH03, OR19-4 Yes No Ensembl:ENSG00000188000, GenAtlas:OR7D2, GeneCard:OR7D2, HGNC:HGNC:8378, ModBase:Q96RA2, NCBI Gene:162998, RefSeq DNA:NT_011295, RefSeq Protein:NP_787079, RefSeq RNA:NM_175883, UniProtKB:Q96RA2 No chr19 9296270 9299493 9185594 9188817 +PA32628 125958 HGNC:8380 ENSG00000174667 olfactory receptor family 7 subfamily D member 4 OR7D4 olfactory receptor, family 7, subfamily D, member 4 OR19-B, OR7D4P, hg105 Yes No Ensembl:ENSG00000174667, GenAtlas:OR7D4, GeneCard:OR7D4, HGNC:HGNC:8380, ModBase:Q8NG98, NCBI Gene:125958, OMIM:611538, RefSeq DNA:NT_011295, RefSeq Protein:NP_001005191, RefSeq RNA:NM_001005191, UniProtKB:Q8NG98 No chr19 9324526 9325547 9213850 9214871 +PA32629 81430 HGNC:15048 ENSG00000242525 olfactory receptor, family 7, subfamily E, member 100 pseudogene OR7E100P Yes No Ensembl:ENSG00000242525, GenAtlas:OR7E100P, GeneCard:OR7E100P, HGNC:HGNC:15048, NCBI Gene:81430, RefSeq DNA:NG_004266, RefSeq DNA:NT_005612 No chr3 112243033 112244047 112524186 112525200 +PA32630 81138 HGNC:15342 ENSG00000227019 olfactory receptor, family 7, subfamily E, member 101 pseudogene OR7E101P Yes No Ensembl:ENSG00000227019, GenAtlas:OR7E101P, GeneCard:OR7E101P, HGNC:HGNC:15342, NCBI Gene:81138, RefSeq DNA:NG_004175, RefSeq DNA:NT_024524 No chr13 47034671 47035344 46460579 46461188 +PA32631 400984 HGNC:15043 ENSG00000168992 olfactory receptor, family 7, subfamily E, member 102 pseudogene OR7E102P Yes No Ensembl:ENSG00000168992, GenAtlas:OR7E102P, GeneCard:OR7E102P, HGNC:HGNC:15043, NCBI Gene:400984, RefSeq DNA:NG_004385, RefSeq DNA:NT_022171 No chr2 96212327 96213322 95546579 95547574 +PA32633 81137 HGNC:15343 ENSG00000219926 olfactory receptor, family 7, subfamily E, member 104 pseudogene OR7E104P Yes No Ensembl:ENSG00000219926, GenAtlas:OR7E104P, GeneCard:OR7E104P, HGNC:HGNC:15343, NCBI Gene:81137, RefSeq DNA:NG_004174, RefSeq DNA:NT_024524 No chr13 64411061 64411806 63836928 63837673 +PA32634 81116 HGNC:15364 ENSG00000258423 olfactory receptor, family 7, subfamily E, member 105 pseudogene OR7E105P Yes No Ensembl:ENSG00000258423, GenAtlas:OR7E105P, GeneCard:OR7E105P, HGNC:HGNC:15364, NCBI Gene:81116, RefSeq DNA:NG_004171, RefSeq DNA:NT_026437 No chr14 52223709 52224704 51756991 51757986 +PA32635 81115 HGNC:15365 ENSG00000258550 olfactory receptor, family 7, subfamily E, member 106 pseudogene OR7E106P OST215 Yes No Ensembl:ENSG00000258550, GenAtlas:OR7E106P, GeneCard:OR7E106P, HGNC:HGNC:15365, NCBI Gene:81115, RefSeq DNA:NG_004170, RefSeq DNA:NT_026437 No chr14 52229766 52230792 51763048 51764074 +PA32637 81363 HGNC:15117 ENSG00000270432 olfactory receptor, family 7, subfamily E, member 108 pseudogene OR7E108P OST726 Yes No Ensembl:ENSG00000270432, GenAtlas:OR7E108P, GeneCard:OR7E108P, HGNC:HGNC:15117, NCBI Gene:81363, RefSeq DNA:NG_004254, RefSeq DNA:NT_008470 No chr9 93513500 93514522 90751218 90752240 +PA32638 401540 HGNC:15118 ENSG00000236316 olfactory receptor, family 7, subfamily E, member 109 pseudogene OR7E109P OST721 Yes No Ensembl:ENSG00000236316, GenAtlas:OR7E109P, GeneCard:OR7E109P, HGNC:HGNC:15118, NCBI Gene:401540, RefSeq DNA:NG_004386, RefSeq DNA:NT_008470 No chr9 93504784 93505730 90742502 90743448 +PA32639 10823 HGNC:8381 ENSG00000254724 olfactory receptor, family 7, subfamily E, member 10 pseudogene OR7E10P OR11-1 Yes No Ensembl:ENSG00000254724, GenAtlas:OR7E10P, GeneCard:OR7E10P, HGNC:HGNC:8381, NCBI Gene:10823, RefSeq DNA:NG_002183, RefSeq DNA:NT_167187 No chr8 12560561 12561547 12703052 12704038 +PA32640 81354 HGNC:15126 ENSG00000235623 olfactory receptor, family 7, subfamily E, member 110 pseudogene OR7E110P OR912-108, OR912-109, OR912-110, OR912-46, hg523, hg674 Yes No Ensembl:ENSG00000235623, GenAtlas:OR7E110P, GeneCard:OR7E110P, HGNC:HGNC:15126, NCBI Gene:81354, RefSeq DNA:NG_004251, RefSeq DNA:NT_008705 No chr10 15028875 15029470 14986876 14987471 +PA32641 81136 HGNC:15344 ENSG00000231667 olfactory receptor, family 7, subfamily E, member 111 pseudogene OR7E111P Yes No Ensembl:ENSG00000231667, GenAtlas:OR7E111P, GeneCard:OR7E111P, HGNC:HGNC:15344, NCBI Gene:81136, RefSeq DNA:NG_004173, RefSeq DNA:NT_024524 No chr13 68476376 68477356 67902244 67903224 +PA32645 81353 HGNC:15127 ENSG00000182531 olfactory receptor, family 7, subfamily E, member 115 pseudogene OR7E115P OST704 Yes No Ensembl:ENSG00000182531, GenAtlas:OR7E115P, GeneCard:OR7E115P, HGNC:HGNC:15127, NCBI Gene:81353, RefSeq DNA:NG_004692, RefSeq DNA:NT_008705 No chr10 15049787 15050725 15007788 15008726 +PA32646 81358 HGNC:15122 ENSG00000225072 olfactory receptor, family 7, subfamily E, member 116 pseudogene OR7E116P OST733 Yes No Ensembl:ENSG00000225072, GenAtlas:OR7E116P, GeneCard:OR7E116P, HGNC:HGNC:15122, NCBI Gene:81358, RefSeq DNA:NG_004253, RefSeq DNA:NT_008470 No chr9 92994381 92995406 90232099 90233124 +PA32647 399857 HGNC:15303 ENSG00000238161 olfactory receptor, family 7, subfamily E, member 117 pseudogene OR7E117P OST716 Yes No Ensembl:ENSG00000238161, GenAtlas:OR7E117P, GeneCard:OR7E117P, HGNC:HGNC:15303, NCBI Gene:399857, RefSeq DNA:NG_004384, RefSeq DNA:NT_009237 No chr11 3620873 3621898 3599643 3600668 +PA32650 10822 HGNC:8382 ENSG00000254447 olfactory receptor, family 7, subfamily E, member 11 pseudogene OR7E11P OR11-2 Yes No Ensembl:ENSG00000254447, GenAtlas:OR7E11P, GeneCard:OR7E11P, HGNC:HGNC:8382, NCBI Gene:10822, RefSeq DNA:NG_002181, RefSeq DNA:NT_167190 No chr11 67503149 67503812 67735678 67736341 +PA32652 402133 HGNC:15049 ENSG00000244222 olfactory receptor, family 7, subfamily E, member 121 pseudogene OR7E121P Yes No Ensembl:ENSG00000244222, GenAtlas:OR7E121P, GeneCard:OR7E121P, HGNC:HGNC:15049, NCBI Gene:402133, RefSeq DNA:NG_004395, RefSeq DNA:NT_022459 No chr3 75647801 75648823 75598650 75599672 +PA32653 81428 HGNC:15050 ENSG00000215160 olfactory receptor, family 7, subfamily E, member 122 pseudogene OR7E122P OST719 Yes No Ensembl:ENSG00000215160, GenAtlas:OR7E122P, GeneCard:OR7E122P, HGNC:HGNC:15050, NCBI Gene:81428, RefSeq DNA:NG_004265, RefSeq DNA:NT_022517 No chr3 8729920 8730840 8688234 8689154 +PA32656 389616 HGNC:15098 ENSG00000177306 olfactory receptor, family 7, subfamily E, member 125 pseudogene OR7E125P PJCG6 Yes No Ensembl:ENSG00000177306, GenAtlas:OR7E125P, GeneCard:OR7E125P, HGNC:HGNC:15098, NCBI Gene:389616, RefSeq DNA:NG_004256, RefSeq DNA:NT_023736 No chr8 7104141 7105109 7246619 7247587 +PA32657 81176 HGNC:15304 ENSG00000254593 olfactory receptor, family 7, subfamily E, member 126 pseudogene OR7E126P OR11-1, hg500 Yes No Ensembl:ENSG00000254593, GenAtlas:OR7E126P, GeneCard:OR7E126P, HGNC:HGNC:15304, NCBI Gene:81176, RefSeq DNA:NG_002280, RefSeq DNA:NT_167190 No chr11 71613950 71615368 71902904 71904322 +PA32659 81175 HGNC:15305 ENSG00000228915 olfactory receptor, family 7, subfamily E, member 128 pseudogene OR7E128P Yes No Ensembl:ENSG00000228915, GenAtlas:OR7E128P, GeneCard:OR7E128P, HGNC:HGNC:15305, NCBI Gene:81175, RefSeq DNA:NG_004186, RefSeq DNA:NT_167190 No chr11 71604454 71605485 71893408 71894439 +PA32660 391576 HGNC:15052 ENSG00000180770 olfactory receptor, family 7, subfamily E, member 129 pseudogene OR7E129P Yes No Ensembl:ENSG00000180770, GenAtlas:OR7E129P, GeneCard:OR7E129P, HGNC:HGNC:15052, NCBI Gene:391576, RefSeq DNA:NG_004264, RefSeq DNA:NT_005612 No chr3 129740398 129741422 130021555 130022579 +PA32661 10821 HGNC:8383 ENSG00000189398 olfactory receptor, family 7, subfamily E, member 12 pseudogene OR7E12P OR11-3 Yes No Ensembl:ENSG00000189398, GenAtlas:OR7E12P, GeneCard:OR7E12P, HGNC:HGNC:8383, NCBI Gene:10821, RefSeq DNA:NG_002179, RefSeq DNA:NT_009237 No chr11 3411937 3413145 3390707 3391915 +PA32662 389144 HGNC:15053 ENSG00000234458 olfactory receptor, family 7, subfamily E, member 130 pseudogene OR7E130P OST702 Yes No Ensembl:ENSG00000234458, GenAtlas:OR7E130P, GeneCard:OR7E130P, HGNC:HGNC:15053, NCBI Gene:389144, RefSeq DNA:NG_004314, RefSeq DNA:NT_005612 No chr3 125422229 125423191 125703385 125704347 +PA134994118 155340 HGNC:19557 ENSG00000205897 olfactory receptor, family 7, subfamily E, member 136 pseudogene OR7E136P Yes No Ensembl:ENSG00000205897, GeneCard:OR7E136P, HGNC:HGNC:19557, NCBI Gene:155340, RefSeq DNA:NG_004291, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 6906287 6907253 6866656 6867622 +PA32665 10820 HGNC:8384 ENSG00000197882 olfactory receptor, family 7, subfamily E, member 13 pseudogene OR7E13P OR11-4 Yes No Ensembl:ENSG00000197882, GenAtlas:OR7E13P, GeneCard:OR7E13P, HGNC:HGNC:8384, NCBI Gene:10820, RefSeq DNA:NG_002177, RefSeq DNA:NT_167190 No chr11 86543648 86544301 86832606 86833259 +PA134882265 344729 HGNC:19561 ENSG00000238152 olfactory receptor, family 7, subfamily E, member 140 pseudogene OR7E140P Yes No Ensembl:ENSG00000238152, GeneCard:OR7E140P, HGNC:HGNC:19561, NCBI Gene:344729, RefSeq DNA:NG_004309, RefSeq DNA:NT_009714 No chr12 8567375 8568370 8414779 8415774 +PA134935757 390215 HGNC:19618 ENSG00000235855 olfactory receptor, family 7, subfamily E, member 145 pseudogene OR7E145P Yes No Ensembl:ENSG00000235855, GeneCard:OR7E145P, HGNC:HGNC:19618, NCBI Gene:390215, RefSeq DNA:NG_004336, RefSeq DNA:NT_167190 No chr11 67489930 67490955 67722459 67723484 +PA134935702 282801 HGNC:19642 ENSG00000214487 olfactory receptor, family 7, subfamily E, member 148 pseudogene OR7E148P Yes No Ensembl:ENSG00000214487, GeneCard:OR7E148P, HGNC:HGNC:19642, NCBI Gene:282801, RefSeq DNA:NG_004303, RefSeq DNA:NT_009714 No chr12 8580257 8581209 8427661 8428613 +PA134956202 282756 HGNC:19589 ENSG00000177586 olfactory receptor, family 7, subfamily E, member 149 pseudogene OR7E149P Yes No Ensembl:ENSG00000177586, GeneCard:OR7E149P, HGNC:HGNC:19589, NCBI Gene:282756, RefSeq DNA:NG_004297, RefSeq DNA:NT_009714 No chr12 8589998 8590978 8437402 8438382 +PA32666 10819 HGNC:8385 ENSG00000184669 olfactory receptor, family 7, subfamily E, member 14 pseudogene OR7E14P OR11-5 Yes No Ensembl:ENSG00000184669, GenAtlas:OR7E14P, GeneCard:OR7E14P, HGNC:HGNC:8385, NCBI Gene:10819, RefSeq DNA:NG_002175, RefSeq DNA:NT_009237 No chr11 17073433 17074591 17051886 17053044 +PA134954855 403296 HGNC:31309 ENSG00000254715 olfactory receptor, family 7, subfamily E, member 154 pseudogene OR7E154P Yes No Ensembl:ENSG00000254715, GeneCard:OR7E154P, HGNC:HGNC:31309, NCBI Gene:403296, RefSeq DNA:NG_004634, RefSeq DNA:NT_077531 No chr8 7562684 7563640 7705162 7706118 +PA134981587 403297 HGNC:31310 ENSG00000234655 olfactory receptor, family 7, subfamily E, member 155 pseudogene OR7E155P Yes No Ensembl:ENSG00000234655, GeneCard:OR7E155P, HGNC:HGNC:31310, NCBI Gene:403297, RefSeq DNA:NG_004435, RefSeq DNA:NT_024524 No chr13 42013973 42014998 41439837 41440862 +PA134919913 283491 HGNC:31311 ENSG00000274052 olfactory receptor, family 7, subfamily E, member 156 pseudogene OR7E156P Yes No Ensembl:ENSG00000274052, GeneCard:OR7E156P, HGNC:HGNC:31311, NCBI Gene:283491, RefSeq DNA:NT_024524, RefSeq RNA:NR_002171 No chr13 64311568 64316701 63737435 63742568 +PA134875903 403219 HGNC:31231 ENSG00000233176 olfactory receptor, family 7, subfamily E, member 157 pseudogene OR7E157P Yes No Ensembl:ENSG00000233176, GeneCard:OR7E157P, HGNC:HGNC:31231, NCBI Gene:403219, RefSeq DNA:NG_004633, RefSeq DNA:NT_023736 No chr8 7449510 7450478 7591988 7592956 +PA134924105 392194 HGNC:31232 ENSG00000254948 olfactory receptor, family 7, subfamily E, member 158 pseudogene OR7E158P Yes No Ensembl:ENSG00000254948, GeneCard:OR7E158P, HGNC:HGNC:31232, NCBI Gene:392194, RefSeq DNA:NG_004376, RefSeq DNA:NT_077531 No chr8 11777405 11778304 11919896 11920795 +PA134993037 403299 HGNC:31312 ENSG00000258849 olfactory receptor, family 7, subfamily E, member 159 pseudogene OR7E159P Yes No Ensembl:ENSG00000258849, GeneCard:OR7E159P, HGNC:HGNC:31312, NCBI Gene:403299, RefSeq DNA:NG_004436, RefSeq DNA:NT_026437 No chr14 52238506 52238814 51771788 51772096 +PA32667 8588 HGNC:8386 ENSG00000254917 olfactory receptor, family 7, subfamily E, member 15 pseudogene OR7E15P OR11-392, OST001 Yes No Ensembl:ENSG00000254917, GenAtlas:OR7E15P, GeneCard:OR7E15P, HGNC:HGNC:8386, NCBI Gene:8588, RefSeq DNA:NG_002168, RefSeq DNA:NT_167187 No chr8 12553879 12554534 12696370 12697025 +PA134871858 402333 HGNC:31233 olfactory receptor, family 7, subfamily E, member 160 pseudogene OR7E160P Yes No GeneCard:OR7E160P, HGNC:HGNC:31233, NCBI Gene:402333, RefSeq DNA:NG_004399, RefSeq DNA:NT_077531 No chr8 11855115 11892149 11997606 12034640 +PA134906648 389626 HGNC:31234 ENSG00000206014 olfactory receptor, family 7, subfamily E, member 161 pseudogene OR7E161P Yes No Ensembl:ENSG00000206014, GeneCard:OR7E161P, HGNC:HGNC:31234, NCBI Gene:389626, RefSeq DNA:NG_004315, RefSeq DNA:NT_077531 No chr8 11786077 11787072 11928568 11929563 +PA142671225 442101 HGNC:28374 ENSG00000234386 olfactory receptor, family 7, subfamily E, member 162 pseudogene OR7E162P Yes No Ensembl:ENSG00000234386, GeneCard:OR7E162P, HGNC:HGNC:28374, NCBI Gene:442101, RefSeq DNA:NG_004863, RefSeq DNA:NT_006051 No chr4 3903233 3904267 3901506 3902540 +PA32668 26473 HGNC:8387 ENSG00000267775 olfactory receptor, family 7, subfamily E, member 16 pseudogene OR7E16P OR19-133, OR19-9 Yes No Ensembl:ENSG00000267775, GenAtlas:OR7E16P, GeneCard:OR7E16P, HGNC:HGNC:8387, NCBI Gene:26473, RefSeq DNA:NG_002189, RefSeq DNA:NT_011295 No chr19 9302105 9302753 9191429 9192077 +PA32669 390885 HGNC:8389 ENSG00000180926 olfactory receptor, family 7, subfamily E, member 18 pseudogene OR7E18P OR19-14, TPCR26 Yes No Ensembl:ENSG00000180926, GenAtlas:OR7E18P, GeneCard:OR7E18P, HGNC:HGNC:8389, NCBI Gene:390885, RefSeq DNA:NG_004360, RefSeq DNA:NT_011295 No chr19 9371653 9372473 9260977 9261797 +PA32670 26651 HGNC:8390 ENSG00000225980 olfactory receptor, family 7, subfamily E, member 19 pseudogene OR7E19P OR19-7 Yes No Ensembl:ENSG00000225980, GenAtlas:OR7E19P, GeneCard:OR7E19P, HGNC:HGNC:8390, NCBI Gene:26651, RefSeq DNA:NG_002356, RefSeq DNA:NT_011295 No chr19 9376069 9377045 9265393 9266369 +PA32671 341128 HGNC:8391 ENSG00000255554 olfactory receptor, family 7, subfamily E, member 1 pseudogene OR7E1P Yes No Ensembl:ENSG00000255554, GenAtlas:OR7E1P, GeneCard:OR7E1P, HGNC:HGNC:8391, NCBI Gene:341128, RefSeq DNA:NG_004307, RefSeq DNA:NT_167190 No chr11 67741705 67742727 67974234 67975256 +PA32673 9432 HGNC:8393 ENSG00000251178 olfactory receptor, family 7, subfamily E, member 21 pseudogene OR7E21P OR4DG, OST035 Yes No Ensembl:ENSG00000251178, GenAtlas:OR7E21P, GeneCard:OR7E21P, HGNC:HGNC:8393, NCBI Gene:9432, RefSeq DNA:NG_004123, RefSeq DNA:NT_005612 No chr3 129753331 129754384 130034488 130035541 +PA32674 9431 HGNC:8394 ENSG00000179799 olfactory receptor, family 7, subfamily E, member 22 pseudogene OR7E22P OR3.6, OR6DG Yes No Ensembl:ENSG00000179799, GenAtlas:OR7E22P, GeneCard:OR7E22P, HGNC:HGNC:8394, NCBI Gene:9431, RefSeq DNA:NG_004122, RefSeq DNA:NT_022459 No chr3 75405636 75406661 75356485 75357510 +PA134956688 391279 HGNC:8395 ENSG00000228433 olfactory receptor, family 7, subfamily E, member 23 pseudogene OR7E23P OR21-3 Yes No Ensembl:ENSG00000228433, GeneCard:OR7E23P, HGNC:HGNC:8395, NCBI Gene:391279, RefSeq DNA:NG_004368, RefSeq DNA:NT_011512 No chr21 33993372 33994354 32621062 32622044 +PA32675 26648 HGNC:8396 ENSG00000237521 olfactory receptor family 7 subfamily E member 24 OR7E24 olfactory receptor, family 7, subfamily E, member 24 HSHT2, OR19-8, OR7E24P, OR7E24Q Yes No Ensembl:ENSG00000237521, GenAtlas:OR7E24, GeneCard:OR7E24, HGNC:HGNC:8396, ModBase:Q6IFN5, NCBI Gene:26648, RefSeq DNA:NT_011295, RefSeq Protein:NP_001073404, RefSeq RNA:NM_001079935, UniProtKB:Q6IFN5 No chr19 9361720 9362739 9251044 9252063 +PA32676 26647 HGNC:8397 ENSG00000187847 olfactory receptor, family 7, subfamily E, member 25 pseudogene OR7E25P CIT-B-440L2, OR19-C Yes No Ensembl:ENSG00000187847, GenAtlas:OR7E25P, GeneCard:OR7E25P, HGNC:HGNC:8397, NCBI Gene:26647, RefSeq DNA:NG_004132, RefSeq DNA:NT_011295 No chr19 9314928 9315908 9204252 9205232 +PA32677 401637 HGNC:8398 ENSG00000228547 olfactory receptor, family 7, subfamily E, member 26 pseudogene OR7E26P OR1-51, OR1-72, OR1-73, OR912-95 Yes No Ensembl:ENSG00000228547, GenAtlas:OR7E26P, GeneCard:OR7E26P, HGNC:HGNC:8398, NCBI Gene:401637, RefSeq DNA:NG_002315, RefSeq DNA:NT_008705 No chr10 15041198 15041851 14999199 14999852 +PA32679 26645 HGNC:8400 ENSG00000251491 olfactory receptor, family 7, subfamily E, member 28 pseudogene OR7E28P OST128, hg616 Yes No Ensembl:ENSG00000251491, GenAtlas:OR7E28P, GeneCard:OR7E28P, HGNC:HGNC:8400, NCBI Gene:26645, RefSeq DNA:NG_004131, RefSeq DNA:NT_005403 No chr2 159718858 159719804 158862346 158863292 +PA32680 26644 HGNC:8401 ENSG00000243429 olfactory receptor, family 7, subfamily E, member 29 pseudogene OR7E29P OST032 Yes No Ensembl:ENSG00000243429, GenAtlas:OR7E29P, GeneCard:OR7E29P, HGNC:HGNC:8401, NCBI Gene:26644, RefSeq DNA:NG_004130, RefSeq DNA:NT_005612 No chr3 125430979 125431923 125712135 125713079 +PA32681 8587 HGNC:8402 ENSG00000255203 olfactory receptor, family 7, subfamily E, member 2 pseudogene OR7E2P OR11-6, hg94 Yes No Ensembl:ENSG00000255203, GenAtlas:OR7E2P, GeneCard:OR7E2P, HGNC:HGNC:8402, NCBI Gene:8587, RefSeq DNA:NG_002166, RefSeq DNA:NT_167190 No chr11 86567973 86568996 86856931 86857954 +PA32683 375601 HGNC:8404 ENSG00000185074 olfactory receptor, family 7, subfamily E, member 31 pseudogene OR7E31P OST205 Yes No Ensembl:ENSG00000185074, GenAtlas:OR7E31P, GeneCard:OR7E31P, HGNC:HGNC:8404, NCBI Gene:375601, RefSeq DNA:NG_004666, RefSeq DNA:NT_008470 No chr9 92978508 92979164 90216226 90216882 +PA32684 26640 HGNC:8406 ENSG00000226537 olfactory receptor, family 7, subfamily E, member 33 pseudogene OR7E33P hg688 Yes No Ensembl:ENSG00000226537, GenAtlas:OR7E33P, GeneCard:OR7E33P, HGNC:HGNC:8406, NCBI Gene:26640, RefSeq DNA:NG_002211, RefSeq DNA:NT_024524 No chr13 68485042 68486249 67910910 67912117 +PA32686 391632 HGNC:8408 ENSG00000250425 olfactory receptor, family 7, subfamily E, member 35 pseudogene OR7E35P OST018 Yes No Ensembl:ENSG00000250425, GenAtlas:OR7E35P, GeneCard:OR7E35P, HGNC:HGNC:8408, NCBI Gene:391632, RefSeq DNA:NG_004371, RefSeq DNA:NT_006316 No chr4 9756517 9757430 9754893 9755806 +PA32687 26637 HGNC:8409 ENSG00000205240 olfactory receptor, family 7, subfamily E, member 36 pseudogene OR7E36P OST024 Yes No Ensembl:ENSG00000205240, GenAtlas:OR7E36P, GeneCard:OR7E36P, HGNC:HGNC:8409, NCBI Gene:26637, RefSeq DNA:NG_004129, RefSeq DNA:NT_024524 No chr13 42005400 42006394 41431264 41432258 +PA32688 100506759 HGNC:8410 ENSG00000215480 olfactory receptor, family 7, subfamily E, member 37 pseudogene OR7E37P hg533 Yes No Ensembl:ENSG00000215480, GenAtlas:OR7E37P, GeneCard:OR7E37P, HGNC:HGNC:8410, NCBI Gene:100506759, RefSeq DNA:NT_024524, RefSeq DNA:NT_079595, RefSeq RNA:NR_002163 No chr13 42016700 42017902 41442564 41443766 +PA32689 389537 HGNC:8411 ENSG00000183444 olfactory receptor, family 7, subfamily E, member 38 pseudogene OR7E38P OST127 Yes No Ensembl:ENSG00000183444, GenAtlas:OR7E38P, GeneCard:OR7E38P, HGNC:HGNC:8411, NCBI Gene:389537, RefSeq DNA:NG_002209, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595 No chr7 97595404 97596389 97966092 97967077 +PA32690 253933 HGNC:8412 ENSG00000273252 olfactory receptor, family 7, subfamily E, member 39 pseudogene OR7E39P hg611 Yes No Ensembl:ENSG00000273252, GenAtlas:OR7E39P, GeneCard:OR7E39P, HGNC:HGNC:8412, NCBI Gene:253933, RefSeq DNA:NG_004294, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 6874454 6875425 6834823 6835794 +PA32693 8583 HGNC:8415 ENSG00000250640 olfactory receptor, family 7, subfamily E, member 41 pseudogene OR7E41P OR11-20, OR8-126, hg84 Yes No Ensembl:ENSG00000250640, GenAtlas:OR7E41P, GeneCard:OR7E41P, HGNC:HGNC:8415, NCBI Gene:8583, RefSeq DNA:NG_002158, RefSeq DNA:NT_009237 No chr11 15009332 15009974 14987786 14988428 +PA32695 26475 HGNC:8417 ENSG00000249844 olfactory receptor, family 7, subfamily E, member 43 pseudogene OR7E43P OR4-116 Yes No Ensembl:ENSG00000249844, GenAtlas:OR7E43P, GeneCard:OR7E43P, HGNC:HGNC:8417, NCBI Gene:26475, RefSeq DNA:NG_002191, RefSeq DNA:NT_006051 No chr4 4176126 4176778 4174399 4175051 +PA32698 402077 HGNC:8420 ENSG00000234485 olfactory receptor, family 7, subfamily E, member 46 pseudogene OR7E46P MCEEP, OST379 Yes No Ensembl:ENSG00000234485, GenAtlas:OR7E46P, GeneCard:OR7E46P, HGNC:HGNC:8420, NCBI Gene:402077, RefSeq DNA:NG_004394, RefSeq DNA:NT_022184 No chr2 71264852 71265796 71037722 71038666 +PA32699 26628 HGNC:8421 ENSG00000257542 olfactory receptor, family 7, subfamily E, member 47 pseudogene OR7E47P OR7E141 Yes No Ensembl:ENSG00000257542, GenAtlas:OR7E47P, GeneCard:OR7E47P, HGNC:HGNC:8421, NCBI Gene:26628, RefSeq DNA:NG_004128, RefSeq DNA:NT_029419 No chr12 52501102 52502047 52079696 52108319 +PA32701 8585 HGNC:8424 ENSG00000255261 olfactory receptor, family 7, subfamily E, member 4 pseudogene OR7E4P OR11-11a Yes No Ensembl:ENSG00000255261, GenAtlas:OR7E4P, GeneCard:OR7E4P, HGNC:HGNC:8424, NCBI Gene:8585, RefSeq DNA:NG_002162, RefSeq DNA:NT_167190 No chr11 71331146 71332068 71620100 71621022 +PA32704 26478 HGNC:8428 ENSG00000239978 olfactory receptor, family 7, subfamily E, member 53 pseudogene OR7E53P OR3-142, OR3-143 Yes No Ensembl:ENSG00000239978, GenAtlas:OR7E53P, GeneCard:OR7E53P, HGNC:HGNC:8428, NCBI Gene:26478, RefSeq DNA:NG_002316, RefSeq DNA:NT_005612 No chr3 125453336 125453991 125734493 125735148 +PA32706 391548 HGNC:8430 ENSG00000230655 olfactory receptor, family 7, subfamily E, member 55 pseudogene OR7E55P OR2DG, OR3.2, OST013 Yes No Ensembl:ENSG00000230655, GenAtlas:OR7E55P, GeneCard:OR7E55P, HGNC:HGNC:8430, NCBI Gene:391548, RefSeq DNA:NG_004370, RefSeq DNA:NT_022459 No chr3 75419563 75420513 75370412 75371362 +PA32709 402249 HGNC:8434 ENSG00000250561 olfactory receptor, family 7, subfamily E, member 59 pseudogene OR7E59P OST119 Yes No Ensembl:ENSG00000250561, GenAtlas:OR7E59P, GeneCard:OR7E59P, HGNC:HGNC:8434, NCBI Gene:402249, RefSeq DNA:NG_004398, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 6919253 6920211 6879622 6880580 +PA32710 219445 HGNC:8435 ENSG00000214880 olfactory receptor, family 7, subfamily E, member 5 pseudogene OR7E5P FLJ31393, OR11-12 Yes No Ensembl:ENSG00000214880, GenAtlas:OR7E5P, GeneCard:OR7E5P, HGNC:HGNC:8435, NCBI Gene:219445, RefSeq DNA:NT_167190, RefSeq RNA:NR_027688 No chr11 55746179 55753881 55978703 55986405 +PA32711 26479 HGNC:8438 ENSG00000234896 olfactory receptor, family 7, subfamily E, member 62 pseudogene OR7E62P OR2-53, OR7E62, OR7E63, OR7E64 Yes No Ensembl:ENSG00000234896, GenAtlas:OR7E62P, GeneCard:OR7E62P, HGNC:HGNC:8438, NCBI Gene:26479, RefSeq DNA:NG_002317, RefSeq DNA:NT_022184 No chr2 71282522 71283168 71055392 71056038 +PA32712 26614 HGNC:8442 ENSG00000243674 olfactory receptor, family 7, subfamily E, member 66 pseudogene OR7E66P HG630, OR3.3, OR3DG Yes No Ensembl:ENSG00000243674, GenAtlas:OR7E66P, GeneCard:OR7E66P, HGNC:HGNC:8442, NCBI Gene:26614, RefSeq DNA:NG_004127, RefSeq DNA:NT_022459 No chr3 75397394 75397915 75348243 75348764 +PA32715 392752 HGNC:8457 ENSG00000238228 olfactory receptor, family 7, subfamily E, member 7 pseudogene OR7E7P Yes No Ensembl:ENSG00000238228, GenAtlas:OR7E7P, GeneCard:OR7E7P, HGNC:HGNC:8457, NCBI Gene:392752, RefSeq DNA:NG_002208, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595 No chr7 97576295 97577301 97946983 97947989 +PA32718 391630 HGNC:14688 ENSG00000249866 olfactory receptor, family 7, subfamily E, member 83 pseudogene OR7E83P Yes No Ensembl:ENSG00000249866, GenAtlas:OR7E83P, GeneCard:OR7E83P, HGNC:HGNC:14688, NCBI Gene:391630, RefSeq DNA:NG_002251, RefSeq DNA:NT_006316 No chr4 9514472 9515636 9512823 9513987 +PA32719 390288 HGNC:14690 ENSG00000284689 olfactory receptor, family 7, subfamily E, member 84 pseudogene OR7E84P OST185 Yes No Ensembl:ENSG00000284689, GenAtlas:OR7E84P, GeneCard:OR7E84P, HGNC:HGNC:14690, NCBI Gene:390288, RefSeq DNA:NG_002276, RefSeq DNA:NT_006316 No chr4 9470652 9471875 9468826 9470249 +PA32720 442105 HGNC:14692 ENSG00000250884 olfactory receptor, family 7, subfamily E, member 85 pseudogene OR7E85P Yes No Ensembl:ENSG00000250884, GenAtlas:OR7E85P, GeneCard:OR7E85P, HGNC:HGNC:14692, NCBI Gene:442105, RefSeq DNA:NG_002249, RefSeq DNA:NT_006316 No chr4 9485250 9486477 9483603 9484830 +PA32721 442104 HGNC:14694 ENSG00000248364 olfactory receptor, family 7, subfamily E, member 86 pseudogene OR7E86P Yes No Ensembl:ENSG00000248364, GenAtlas:OR7E86P, GeneCard:OR7E86P, HGNC:HGNC:14694, NCBI Gene:442104, RefSeq DNA:NG_002248, RefSeq DNA:NT_006316 No chr4 9460848 9462070 9459122 9460344 +PA32722 8586 HGNC:14709 ENSG00000184055 olfactory receptor, family 7, subfamily E, member 87 pseudogene OR7E87P OR11-9 Yes No Ensembl:ENSG00000184055, GenAtlas:OR7E87P, GeneCard:OR7E87P, HGNC:HGNC:14709, NCBI Gene:8586, RefSeq DNA:NG_002164, RefSeq DNA:NT_167190 No chr11 71304704 71305351 71593658 71594305 +PA32724 79540 HGNC:14730 ENSG00000243792 olfactory receptor, family 7, subfamily E, member 89 pseudogene OR7E89P Yes No Ensembl:ENSG00000243792, GenAtlas:OR7E89P, GeneCard:OR7E89P, HGNC:HGNC:14730, NCBI Gene:79540, RefSeq DNA:NG_002272, RefSeq DNA:NT_005403 No chr2 159710016 159711184 158853504 158854672 +PA32725 346708 HGNC:8458 ENSG00000177400 olfactory receptor, family 7, subfamily E, member 8 pseudogene OR7E8P OR11-11a Yes No Ensembl:ENSG00000177400, GenAtlas:OR7E8P, GeneCard:OR7E8P, HGNC:HGNC:8458, NCBI Gene:346708, RefSeq DNA:NG_002207, RefSeq DNA:NT_167187 No chr8 12541649 12542674 12684140 12685165 +PA32726 79537 HGNC:14733 ENSG00000188668 olfactory receptor, family 7, subfamily E, member 90 pseudogene OR7E90P OST705 Yes No Ensembl:ENSG00000188668, GenAtlas:OR7E90P, GeneCard:OR7E90P, HGNC:HGNC:14733, NCBI Gene:79537, RefSeq DNA:NG_002271, RefSeq DNA:NT_005403 No chr2 159731105 159732278 158874593 158875766 +PA32727 79315 HGNC:14747 ENSG00000205847 olfactory receptor, family 7, subfamily E, member 91 pseudogene OR7E91P Yes No Ensembl:ENSG00000205847, GenAtlas:OR7E91P, GeneCard:OR7E91P, HGNC:HGNC:14747, NCBI Gene:79315, RefSeq DNA:NT_022184, RefSeq RNA:NR_002185 No chr2 71251205 71257061 71024075 71029931 +PA32729 79282 HGNC:14780 ENSG00000228963 olfactory receptor, family 7, subfamily E, member 93 pseudogene OR7E93P Yes No Ensembl:ENSG00000228963, GenAtlas:OR7E93P, GeneCard:OR7E93P, HGNC:HGNC:14780, NCBI Gene:79282, RefSeq DNA:NG_002225, RefSeq DNA:NT_005612 No chr3 125443277 125444447 125724434 125725604 +PA32730 79273 HGNC:14789 ENSG00000249646 olfactory receptor, family 7, subfamily E, member 94 pseudogene OR7E94P Yes No Ensembl:ENSG00000249646, GenAtlas:OR7E94P, GeneCard:OR7E94P, HGNC:HGNC:14789, NCBI Gene:79273, RefSeq DNA:NG_002221, RefSeq DNA:NT_016354 No chr4 80508908 80509237 79587754 79588083 +PA32732 401450 HGNC:14815 ENSG00000227013 olfactory receptor, family 7, subfamily E, member 96 pseudogene OR7E96P Yes No Ensembl:ENSG00000227013, GenAtlas:OR7E96P, GeneCard:OR7E96P, HGNC:HGNC:14815, NCBI Gene:401450, RefSeq DNA:NG_004629, RefSeq DNA:NT_077531 No chr8 7897501 7898469 8039979 8040947 +PA32733 79492 HGNC:14834 ENSG00000179170 olfactory receptor, family 7, subfamily E, member 97 pseudogene OR7E97P Yes No Ensembl:ENSG00000179170, GenAtlas:OR7E97P, GeneCard:OR7E97P, HGNC:HGNC:14834, NCBI Gene:79492, RefSeq DNA:NG_002256, RefSeq DNA:NT_005612 No chr3 125465972 125466942 125747129 125748099 +PA32735 81419 HGNC:15059 ENSG00000250710 olfactory receptor, family 7, subfamily E, member 99 pseudogene OR7E99P Yes No Ensembl:ENSG00000250710, GenAtlas:OR7E99P, GeneCard:OR7E99P, HGNC:HGNC:15059, NCBI Gene:81419, RefSeq DNA:NG_004262, RefSeq DNA:NT_006051 No chr4 4158206 4159230 4156479 4157503 +PA32737 125962 HGNC:8465 ENSG00000161807 olfactory receptor family 7 subfamily G member 1 OR7G1 olfactory receptor, family 7, subfamily G, member 1 OR19-15, OR7G1P Yes No Ensembl:ENSG00000161807, GenAtlas:OR7G1, GeneCard:OR7G1, HGNC:HGNC:8465, ModBase:Q8NGA0, NCBI Gene:125962, RefSeq DNA:NT_011295, RefSeq Protein:NP_001005192, RefSeq RNA:NM_001005192, UniProtKB:Q8NGA0 No chr19 9225504 9226439 9114828 9115763 +PA134871103 403300 HGNC:31313 ENSG00000275787 olfactory receptor, family 7, subfamily G, member 15 pseudogene OR7G15P Yes No Ensembl:ENSG00000275787, GeneCard:OR7G15P, HGNC:HGNC:31313, NCBI Gene:403300, RefSeq DNA:NG_004437, RefSeq DNA:NT_011295 No chr19 9232759 9233162 9122083 9122486 +PA32738 390882 HGNC:8466 ENSG00000170923 olfactory receptor family 7 subfamily G member 2 OR7G2 olfactory receptor, family 7, subfamily G, member 2 OST260 Yes No Ensembl:ENSG00000170923, GenAtlas:OR7G2, GeneCard:OR7G2, HGNC:HGNC:8466, ModBase:Q8NG99, NCBI Gene:390882, RefSeq DNA:NT_011295, RefSeq Protein:NP_001005193, RefSeq RNA:NM_001005193 No chr19 9212945 9213982 9102269 9103306 +PA32739 390883 HGNC:8467 ENSG00000170920 olfactory receptor family 7 subfamily G member 3 OR7G3 olfactory receptor, family 7, subfamily G, member 3 OST085 Yes No Ensembl:ENSG00000170920, GenAtlas:OR7G3, GeneCard:OR7G3, HGNC:HGNC:8467, ModBase:Q8NG95, NCBI Gene:390883, RefSeq DNA:NT_011295, RefSeq Protein:NP_001001958, RefSeq RNA:NM_001001958, UniProtKB:Q8NG95 No chr19 9236688 9237626 9126012 9126950 +PA32740 390886 HGNC:8468 ENSG00000226480 olfactory receptor, family 7, subfamily H, member 1 pseudogene OR7H1P OR7H1 Yes No Ensembl:ENSG00000226480, GenAtlas:OR7H1P, GeneCard:OR7H1P, HGNC:HGNC:8468, NCBI Gene:390886, RefSeq DNA:NG_002205, RefSeq DNA:NT_011295 No chr19 9389109 9390045 9278433 9279369 +PA134867172 403301 HGNC:31314 ENSG00000251261 olfactory receptor, family 7, subfamily H, member 2 pseudogene OR7H2P Yes No Ensembl:ENSG00000251261, GeneCard:OR7H2P, HGNC:HGNC:31314, NCBI Gene:403301, RefSeq DNA:NG_004438, RefSeq DNA:NT_034772 No chr5 101151587 101152484 101815883 101816780 +PA32741 81114 HGNC:15366 ENSG00000258275 olfactory receptor, family 7, subfamily K, member 1 pseudogene OR7K1P Yes No Ensembl:ENSG00000258275, GenAtlas:OR7K1P, GeneCard:OR7K1P, HGNC:HGNC:15366, NCBI Gene:81114, RefSeq DNA:NG_004167, RefSeq DNA:NT_026437 No chr14 25826971 25827974 25357765 25358768 +PA32742 79499 HGNC:14827 ENSG00000232787 olfactory receptor, family 7, subfamily L, member 1 pseudogene OR7L1P Yes No Ensembl:ENSG00000232787, GenAtlas:OR7L1P, GeneCard:OR7L1P, HGNC:HGNC:14827, NCBI Gene:79499, RefSeq DNA:NG_002258, RefSeq DNA:NT_011786 No chrX 130730096 130731178 131596122 131597204 +PA32743 81352 HGNC:15128 ENSG00000273336 olfactory receptor, family 7, subfamily M, member 1 pseudogene OR7M1P Yes No Ensembl:ENSG00000273336, GenAtlas:OR7M1P, GeneCard:OR7M1P, HGNC:HGNC:15128, NCBI Gene:81352, RefSeq DNA:NG_004250, RefSeq DNA:NT_008818 No chr10 135294726 135295275 133481222 133481771 +PA32744 390275 HGNC:8469 ENSG00000196119 olfactory receptor family 8 subfamily A member 1 OR8A1 olfactory receptor, family 8, subfamily A, member 1 OST025 Yes No Ensembl:ENSG00000196119, GenAtlas:OR8A1, GeneCard:OR8A1, HGNC:HGNC:8469, ModBase:Q8NGG7, NCBI Gene:390275, RefSeq DNA:NT_033899, RefSeq Protein:NP_001005194, RefSeq RNA:NM_001005194, UniProtKB:Q8NGG7 No chr11 124439965 124440945 124570069 124571049 +PA32745 390273 HGNC:15306 ENSG00000255510 olfactory receptor, family 8, subfamily A, member 2 pseudogene OR8A2P Yes No Ensembl:ENSG00000255510, GenAtlas:OR8A2P, GeneCard:OR8A2P, HGNC:HGNC:15306, NCBI Gene:390273, RefSeq DNA:NG_004341, RefSeq DNA:NT_033899 No chr11 124330461 124331423 124460565 124461527 +PA134917194 403302 HGNC:31315 ENSG00000255315 olfactory receptor, family 8, subfamily A, member 3 pseudogene OR8A3P Yes No Ensembl:ENSG00000255315, GeneCard:OR8A3P, HGNC:HGNC:31315, NCBI Gene:403302, RefSeq DNA:NG_004439, RefSeq DNA:NT_033899 No chr11 124401503 124401881 124531607 124531985 +PA32746 390274 HGNC:14751 ENSG00000254646 olfactory receptor, family 8, subfamily B, member 10 pseudogene OR8B10P Yes No Ensembl:ENSG00000254646, GenAtlas:OR8B10P, GeneCard:OR8B10P, HGNC:HGNC:14751, NCBI Gene:390274, RefSeq DNA:NG_004342, RefSeq DNA:NT_033899 No chr11 124386206 124387138 124516310 124517242 +PA32748 219858 HGNC:15307 ENSG00000170953 olfactory receptor family 8 subfamily B member 12 OR8B12 olfactory receptor, family 8, subfamily B, member 12 Yes No Ensembl:ENSG00000170953, GenAtlas:OR8B12, GeneCard:OR8B12, HGNC:HGNC:15307, ModBase:Q8NGG6, NCBI Gene:219858, RefSeq DNA:NT_033899, RefSeq Protein:NP_001005195, RefSeq RNA:NM_001005195, UniProtKB:Q8NGG6 No chr11 124412618 124413550 124542722 124543654 +PA32749 8582 HGNC:8470 ENSG00000227737 olfactory receptor, family 8, subfamily B, member 1 pseudogene OR8B1P OR11-561 Yes No Ensembl:ENSG00000227737, GenAtlas:OR8B1P, GeneCard:OR8B1P, HGNC:HGNC:8470, NCBI Gene:8582, RefSeq DNA:NG_002156, RefSeq DNA:NT_033899 No chr11 124235315 124236287 124365419 124366391 +PA32750 26595 HGNC:8471 ENSG00000284680 olfactory receptor family 8 subfamily B member 2 OR8B2 olfactory receptor, family 8, subfamily B, member 2 Yes No Ensembl:ENSG00000284680, GenAtlas:OR8B2, GeneCard:OR8B2, HGNC:HGNC:8471, ModBase:Q96RD0, NCBI Gene:26595, RefSeq DNA:NT_033899, RefSeq Protein:NP_001005468, RefSeq RNA:NM_001005468, UniProtKB:Q96RD0 No chr11 124252298 124276648 124382402 124397319 +PA32751 390271 HGNC:8472 ENSG00000284609 olfactory receptor family 8 subfamily B member 3 OR8B3 olfactory receptor, family 8, subfamily B, member 3 Yes No Ensembl:ENSG00000284609, GenAtlas:OR8B3, GeneCard:OR8B3, HGNC:HGNC:8472, NCBI Gene:390271, RefSeq DNA:NT_033899, RefSeq Protein:NP_001005467, RefSeq RNA:NM_001005467, UniProtKB:Q8NGG8 No chr11 124266306 124267247 124396410 124410495 +PA32752 283162 HGNC:8473 ENSG00000280090 olfactory receptor family 8 subfamily B member 4 OR8B4 """olfactory receptor family 8 subfamily B member 4 (gene/pseudogene)"", ""olfactory receptor, family 8, subfamily B, member 4""" OR8B4P Yes No Ensembl:ENSG00000280090, GenAtlas:OR8B4, GeneCard:OR8B4, HGNC:HGNC:8473, ModBase:Q96RC9, NCBI Gene:283162, RefSeq DNA:NT_033899, RefSeq Protein:NP_001005196, RefSeq RNA:NM_001005196, UniProtKB:Q96RC9 No chr11 124293838 124294767 124423942 124424871 +PA32753 26592 HGNC:8474 ENSG00000255030 olfactory receptor, family 8, subfamily B, member 5 pseudogene OR8B5P Yes No Ensembl:ENSG00000255030, GenAtlas:OR8B5P, GeneCard:OR8B5P, HGNC:HGNC:8474, NCBI Gene:26592, RefSeq DNA:NG_002204, RefSeq DNA:NT_033899 No chr11 124227505 124228307 124357609 124358411 +PA32754 26591 HGNC:8475 ENSG00000255225 olfactory receptor, family 8, subfamily B, member 6 pseudogene OR8B6P Yes No Ensembl:ENSG00000255225, GenAtlas:OR8B6P, GeneCard:OR8B6P, HGNC:HGNC:8475, NCBI Gene:26591, RefSeq DNA:NG_002203, RefSeq DNA:NT_033899 No chr11 124208708 124209608 124338812 124339712 +PA32755 26590 HGNC:8476 ENSG00000254976 olfactory receptor, family 8, subfamily B, member 7 pseudogene OR8B7P Yes No Ensembl:ENSG00000254976, GenAtlas:OR8B7P, GeneCard:OR8B7P, HGNC:HGNC:8476, NCBI Gene:26590, RefSeq DNA:NG_002202, RefSeq DNA:NT_033899 No chr11 124194685 124195303 124324789 124325407 +PA32756 26493 HGNC:8477 ENSG00000197125 olfactory receptor family 8 subfamily B member 8 OR8B8 olfactory receptor, family 8, subfamily B, member 8 TPCR85 Yes No Ensembl:ENSG00000197125, GenAtlas:OR8B8, GeneCard:OR8B8, HGNC:HGNC:8477, ModBase:Q15620, NCBI Gene:26493, RefSeq DNA:NT_033899, RefSeq Protein:NP_036510, RefSeq RNA:NM_012378, UCSC Genome Browser:NM_012378, UniProtKB:Q15620 No chr11 124310046 124310981 124440150 124441085 +PA32757 79316 HGNC:14746 ENSG00000229386 olfactory receptor, family 8, subfamily B, member 9 pseudogene OR8B9P Yes No Ensembl:ENSG00000229386, GenAtlas:OR8B9P, GeneCard:OR8B9P, HGNC:HGNC:14746, NCBI Gene:79316, RefSeq DNA:NG_002322, RefSeq DNA:NT_033899 No chr11 124350974 124351459 124481078 124481563 +PA32758 8580 HGNC:8478 ENSG00000229254 olfactory receptor, family 8, subfamily C, member 1 pseudogene OR8C1P OR11-175, OR912-106, OR912-45 Yes No Ensembl:ENSG00000229254, GenAtlas:OR8C1P, GeneCard:OR8C1P, HGNC:HGNC:8478, NCBI Gene:8580, RefSeq DNA:NG_002154, RefSeq DNA:NT_033899 No chr11 124246837 124247511 124376941 124377615 +PA32760 283159 HGNC:8481 ENSG00000196341 olfactory receptor family 8 subfamily D member 1 OR8D1 olfactory receptor, family 8, subfamily D, member 1 OR8D3, OST004 Yes No Ensembl:ENSG00000196341, GenAtlas:OR8D1, GeneCard:OR8D1, HGNC:HGNC:8481, ModBase:Q8WZ84, NCBI Gene:283159, RefSeq DNA:NT_033899, RefSeq Protein:NP_001002917, RefSeq RNA:NM_001002917, UniProtKB:Q8WZ84 No chr11 124179736 124180662 124309840 124310766 +PA32761 283160 HGNC:8482 ENSG00000279116 olfactory receptor family 8 subfamily D member 2 OR8D2 """olfactory receptor family 8 subfamily D member 2 (gene/pseudogene)"", ""olfactory receptor, family 8, subfamily D, member 2""" Yes No Ensembl:ENSG00000279116, GenAtlas:OR8D2, GeneCard:OR8D2, HGNC:HGNC:8482, ModBase:Q9GZM6, NCBI Gene:283160, RefSeq DNA:NT_033899, RefSeq Protein:NP_001002918, RefSeq RNA:NM_001002918, UniProtKB:Q9GZM6 No chr11 124189158 124190093 124319262 124320197 +PA32762 338662 HGNC:14840 ENSG00000181518 olfactory receptor family 8 subfamily D member 4 OR8D4 olfactory receptor, family 8, subfamily D, member 4 Yes No Ensembl:ENSG00000181518, GenAtlas:OR8D4, GeneCard:OR8D4, HGNC:HGNC:14840, ModBase:Q8NGM9, NCBI Gene:338662, RefSeq DNA:NT_033899, RefSeq Protein:NP_001005197, RefSeq RNA:NM_001005197, UniProtKB:Q8NGM9 No chr11 123777139 123778083 123906432 123907376 +PA32763 390269 HGNC:14691 ENSG00000239426 olfactory receptor, family 8, subfamily F, member 1 pseudogene OR8F1P Yes No Ensembl:ENSG00000239426, GenAtlas:OR8F1P, GeneCard:OR8F1P, HGNC:HGNC:14691, NCBI Gene:390269, RefSeq DNA:NG_004340, RefSeq DNA:NT_033899 No chr11 124077891 124078853 124207184 124208146 +PA32764 26494 HGNC:8484 ENSG00000197849 olfactory receptor family 8 subfamily G member 1 OR8G1 """olfactory receptor family 8 subfamily G member 1 (gene/pseudogene)"", ""olfactory receptor, family 8, subfamily G, member 1"", ""olfactory receptor, family 8, subfamily G, member 1 (gene/pseudogene)""" HSTPCR25, OR8G1P, TPCR25 Yes No Ensembl:ENSG00000197849, GenAtlas:OR8G1, GeneCard:OR8G1, HGNC:HGNC:8484, ModBase:Q15617, NCBI Gene:26494, RefSeq DNA:NT_033899, RefSeq Protein:NP_001002905, RefSeq RNA:NM_001002905, UniProtKB:Q15617 No chr11 124120423 124121287 124249676 124250611 +PA32766 387815 HGNC:14698 ENSG00000255425 olfactory receptor family 8 subfamily G member 3 (gene/pseudogene) OR8G3 olfactory receptor, family 8, subfamily G, member 3 pseudogene OR8G3P Yes No Ensembl:ENSG00000255425, GenAtlas:OR8G3P, GeneCard:OR8G3P, HGNC:HGNC:14698, NCBI Gene:387815, RefSeq DNA:NG_004312, RefSeq DNA:NT_033899 No chr11 124085927 124086491 124215220 124215784 +PA134942725 219865 HGNC:19622 ENSG00000255298 olfactory receptor family 8 subfamily G member 5 OR8G5 olfactory receptor, family 8, subfamily G, member 5 OR8G5P, OR8G6 Yes No Ensembl:ENSG00000255298, GeneCard:OR8G5, HGNC:HGNC:19622, ModBase:Q8NG78, NCBI Gene:219865, RefSeq DNA:NT_033899, RefSeq Protein:NP_001005198, RefSeq RNA:NM_001005198 No chr11 124134723 124135763 124241158 124323283 +PA134913027 282786 HGNC:19625 ENSG00000276316 olfactory receptor, family 8, subfamily G, member 7 pseudogene OR8G7P Yes No Ensembl:ENSG00000276316, GeneCard:OR8G7P, HGNC:HGNC:19625, NCBI Gene:282786, RefSeq DNA:NG_004628, RefSeq DNA:NT_033899 No chr11 124109123 124110319 124238422 124239577 +PA32767 219469 HGNC:14824 ENSG00000181693 olfactory receptor family 8 subfamily H member 1 OR8H1 olfactory receptor, family 8, subfamily H, member 1 Yes No Ensembl:ENSG00000181693, GenAtlas:OR8H1, GeneCard:OR8H1, HGNC:HGNC:14824, ModBase:Q8NGG4, NCBI Gene:219469, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005199, RefSeq RNA:NM_001005199, UniProtKB:Q8NGG4 No chr11 56057603 56058538 56290127 56291062 +PA32768 390151 HGNC:15308 ENSG00000181767 olfactory receptor family 8 subfamily H member 2 OR8H2 olfactory receptor, family 8, subfamily H, member 2 Yes No Ensembl:ENSG00000181767, GenAtlas:OR8H2, GeneCard:OR8H2, HGNC:HGNC:15308, ModBase:Q8N162, NCBI Gene:390151, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005200, RefSeq RNA:NM_001005200, UniProtKB:Q8N162 No chr11 55872519 55873457 56105043 56105981 +PA32769 390152 HGNC:15309 ENSG00000181761 olfactory receptor family 8 subfamily H member 3 OR8H3 olfactory receptor, family 8, subfamily H, member 3 Yes No Ensembl:ENSG00000181761, GenAtlas:OR8H3, GeneCard:OR8H3, HGNC:HGNC:15309, ModBase:Q8N146, NCBI Gene:390152, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005201, RefSeq RNA:NM_001005201, UniProtKB:Q8N146 No chr11 55889849 55890787 56122373 56123311 +PA32770 79498 HGNC:14828 ENSG00000255461 olfactory receptor, family 8, subfamily I, member 1 pseudogene OR8I1P Yes No Ensembl:ENSG00000255461, GenAtlas:OR8I1P, GeneCard:OR8I1P, HGNC:HGNC:14828, NCBI Gene:79498, RefSeq DNA:NG_004147, RefSeq DNA:NT_167190 No chr11 56064016 56064946 56296540 56297470 +PA32771 120586 HGNC:15310 ENSG00000172154 olfactory receptor family 8 subfamily I member 2 OR8I2 olfactory receptor, family 8, subfamily I, member 2 Yes No Ensembl:ENSG00000172154, GenAtlas:OR8I2, GeneCard:OR8I2, HGNC:HGNC:15310, ModBase:Q8N0Y5, NCBI Gene:120586, RefSeq DNA:NT_167190, RefSeq Protein:NP_001003750, RefSeq RNA:NM_001003750, UniProtKB:Q8N0Y5 No chr11 55860784 55861716 56093308 56094240 +PA134879017 403303 HGNC:31316 ENSG00000254524 olfactory receptor, family 8, subfamily I, member 4 pseudogene OR8I4P Yes No Ensembl:ENSG00000254524, GeneCard:OR8I4P, HGNC:HGNC:31316, NCBI Gene:403303, RefSeq DNA:NG_004635, RefSeq DNA:NT_167190 No chr11 55864719 55864859 56097243 56097383 +PA32772 219477 HGNC:14855 ENSG00000172487 olfactory receptor family 8 subfamily J member 1 OR8J1 olfactory receptor, family 8, subfamily J, member 1 Yes No Ensembl:ENSG00000172487, GenAtlas:OR8J1, GeneCard:OR8J1, HGNC:HGNC:14855, ModBase:Q8NGP2, NCBI Gene:219477, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005205, RefSeq RNA:NM_001005205, UniProtKB:Q8NGP2 No chr11 56127691 56128764 56360215 56361288 +PA32773 81169 HGNC:15311 ENSG00000254658 olfactory receptor family 8 subfamily J member 2 (gene/pseudogene) OR8J2 olfactory receptor, family 8, subfamily J, member 2 (gene/pseudogene) OR8J2P Yes No Ensembl:ENSG00000254658, GenAtlas:OR8J2P, GeneCard:OR8J2, HGNC:HGNC:15311, NCBI Gene:81169, RefSeq DNA:NG_004185, RefSeq DNA:NT_033903 No chr11 55978333 55979297 56210857 56211821 +PA32774 81168 HGNC:15312 ENSG00000167822 olfactory receptor family 8 subfamily J member 3 OR8J3 olfactory receptor, family 8, subfamily J, member 3 Yes No Ensembl:ENSG00000167822, GenAtlas:OR8J3, GeneCard:OR8J3, HGNC:HGNC:15312, ModBase:Q8NGG0, NCBI Gene:81168, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004064, RefSeq RNA:NM_001004064, UniProtKB:Q8NGG0 No chr11 55904247 55905194 56136771 56137718 +PA32775 390157 HGNC:14831 ENSG00000150261 olfactory receptor family 8 subfamily K member 1 OR8K1 olfactory receptor, family 8, subfamily K, member 1 Yes No Ensembl:ENSG00000150261, GenAtlas:OR8K1, GeneCard:OR8K1, HGNC:HGNC:14831, ModBase:Q8NGG5, NCBI Gene:390157, RefSeq DNA:NT_167190, RefSeq Protein:NP_001002907, RefSeq RNA:NM_001002907, UniProtKB:Q8NGG5 No chr11 56113515 56114474 56346039 56346998 +PA32776 79494 HGNC:14832 ENSG00000255134 olfactory receptor, family 8, subfamily K, member 2 pseudogene OR8K2P Yes No Ensembl:ENSG00000255134, GenAtlas:OR8K2P, GeneCard:OR8K2P, HGNC:HGNC:14832, NCBI Gene:79494, RefSeq DNA:NG_004146, RefSeq DNA:NT_167190 No chr11 56102619 56103545 56335143 56336069 +PA32777 219473 HGNC:15313 ENSG00000280314 olfactory receptor family 8 subfamily K member 3 (gene/pseudogene) OR8K3 olfactory receptor, family 8, subfamily K, member 3 Yes No Ensembl:ENSG00000280314, GenAtlas:OR8K3, GeneCard:OR8K3, HGNC:HGNC:15313, ModBase:Q8NH51, NCBI Gene:219473, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005202, RefSeq RNA:NM_001005202, UniProtKB:Q8NH51 No chr11 56085783 56086721 56318307 56319245 +PA32778 81166 HGNC:15314 ENSG00000254947 olfactory receptor, family 8, subfamily K, member 4 pseudogene OR8K4P Yes No Ensembl:ENSG00000254947, GenAtlas:OR8K4P, GeneCard:OR8K4P, HGNC:HGNC:15314, NCBI Gene:81166, RefSeq DNA:NG_004184, RefSeq DNA:NT_167190 No chr11 55909991 55910862 56142515 56143386 +PA32779 219453 HGNC:15315 ENSG00000181752 olfactory receptor family 8 subfamily K member 5 OR8K5 olfactory receptor, family 8, subfamily K, member 5 Yes No Ensembl:ENSG00000181752, GenAtlas:OR8K5, GeneCard:OR8K5, HGNC:HGNC:15315, ModBase:Q8NH50, NCBI Gene:219453, RefSeq DNA:NT_167190, RefSeq Protein:NP_001004058, RefSeq RNA:NM_001004058, UniProtKB:Q8NH50 No chr11 55926870 55927793 56159394 56160317 +PA32780 81164 HGNC:15316 ENSG00000254903 olfactory receptor, family 8, subfamily L, member 1 pseudogene OR8L1P Yes No Ensembl:ENSG00000254903, GenAtlas:OR8L1P, GeneCard:OR8L1P, HGNC:HGNC:15316, NCBI Gene:81164, RefSeq DNA:NG_004183, RefSeq DNA:NT_167190 No chr11 56149112 56150066 56381636 56382590 +PA32782 81163 HGNC:15317 ENSG00000255341 olfactory receptor, family 8, subfamily Q, member 1 pseudogene OR8Q1P Yes No Ensembl:ENSG00000255341, GenAtlas:OR8Q1P, GeneCard:OR8Q1P, HGNC:HGNC:15317, NCBI Gene:81163, RefSeq DNA:NG_004182, RefSeq DNA:NT_033899 No chr11 124471499 124472155 124601603 124602259 +PA32783 81162 HGNC:15318 ENSG00000256347 olfactory receptor, family 8, subfamily R, member 1 pseudogene OR8R1P Yes No Ensembl:ENSG00000256347, GenAtlas:OR8R1P, GeneCard:OR8R1P, HGNC:HGNC:15318, NCBI Gene:81162, RefSeq DNA:NG_004181, RefSeq DNA:NT_167190 No chr11 72960361 72960914 73249316 73249869 +PA134896911 341568 HGNC:19628 ENSG00000284723 olfactory receptor family 8 subfamily S member 1 OR8S1 olfactory receptor, family 8, subfamily S, member 1 Yes No Ensembl:ENSG00000284723, GeneCard:OR8S1, HGNC:HGNC:19628, ModBase:Q8NH09, NCBI Gene:341568, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005203, RefSeq RNA:NM_001005203, UniProtKB:Q8NH09 No chr12 48919415 48921886 48525632 48528103 +PA134924905 403304 HGNC:31317 ENSG00000273434 olfactory receptor, family 8, subfamily S, member 21 pseudogene OR8S21P Yes No Ensembl:ENSG00000273434, GeneCard:OR8S21P, HGNC:HGNC:31317, NCBI Gene:403304, RefSeq DNA:NG_005823, RefSeq DNA:NT_029419 No chr12 48810933 48811120 48417150 48417337 +PA134969304 282791 HGNC:19630 ENSG00000226413 olfactory receptor, family 8, subfamily T, member 1 pseudogene OR8T1P Yes No Ensembl:ENSG00000226413, GeneCard:OR8T1P, HGNC:HGNC:19630, NCBI Gene:282791, RefSeq DNA:NG_004301, RefSeq DNA:NT_029419 No chr12 48835815 48836729 48442032 48442946 +PA134970669 219417 HGNC:19611 ENSG00000172199 olfactory receptor family 8 subfamily U member 1 OR8U1 olfactory receptor, family 8, subfamily U, member 1 Yes No Ensembl:ENSG00000172199, GeneCard:OR8U1, HGNC:HGNC:19611, ModBase:Q8NH10, NCBI Gene:219417, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005204, RefSeq RNA:NM_001005204, UniProtKB:Q8NH10 No chr11 56143100 56144029 56375624 56376553 +PA166352000 219479 HGNC:14841 olfactory receptor family 8 subfamily U member 3 OR8U3 OR5R1, OR5R1P Yes No HGNC:HGNC:14841, NCBI Gene:219479 No 0 0 0 0 +PA142671222 504189 HGNC:27538 ENSG00000262315 olfactory receptor family 8 subfamily U member 8 OR8U8 olfactory receptor, family 8, subfamily U, member 8 Yes No Ensembl:ENSG00000262315, GeneCard:OR8U8, HGNC:HGNC:27538, ModBase:P0C7N1, NCBI Gene:504189, RefSeq Protein:NP_001013374, RefSeq RNA:NM_001013356, UniProtKB:P0C7N1 No chr11 186374 187333 186374 187333 +PA142671223 504190 HGNC:29166 ENSG00000281038 olfactory receptor family 8 subfamily U member 9 OR8U9 olfactory receptor, family 8, subfamily U, member 9 Yes No Ensembl:ENSG00000281038, GeneCard:OR8U9, HGNC:HGNC:29166, ModBase:P0C7N5, NCBI Gene:504190, RefSeq Protein:NP_001013375, RefSeq RNA:NM_001013357, UniProtKB:P0C7N5 No chr11 193979 194908 193979 194908 +PA134904391 282776 HGNC:19613 ENSG00000230213 olfactory receptor, family 8, subfamily V, member 1 pseudogene OR8V1P Yes No Ensembl:ENSG00000230213, GeneCard:OR8V1P, HGNC:HGNC:19613, NCBI Gene:282776, RefSeq DNA:NG_004299, RefSeq DNA:NT_167190 No chr11 55955807 55956727 56188331 56189251 +PA134896423 403305 HGNC:31318 ENSG00000255048 olfactory receptor, family 8, subfamily X, member 1 pseudogene OR8X1P Yes No Ensembl:ENSG00000255048, GeneCard:OR8X1P, HGNC:HGNC:31318, NCBI Gene:403305, RefSeq DNA:NG_004440, RefSeq DNA:NT_033899 No chr11 124274129 124274997 124404233 124405101 +PA32784 26495 HGNC:8486 ENSG00000237621 olfactory receptor, family 9, subfamily A, member 1 pseudogene OR9A1P HSHTPCRX06, HTPCRX06 Yes No Ensembl:ENSG00000237621, GenAtlas:OR9A1P, GeneCard:OR9A1P, HGNC:HGNC:8486, NCBI Gene:26495, RefSeq DNA:NG_002195, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 141586948 141587736 141887148 141887936 +PA32785 135924 HGNC:15093 ENSG00000179468 olfactory receptor family 9 subfamily A member 2 OR9A2 olfactory receptor, family 9, subfamily A, member 2 Yes No Ensembl:ENSG00000179468, GenAtlas:OR9A2, GeneCard:OR9A2, HGNC:HGNC:15093, ModBase:Q8NGT5, NCBI Gene:135924, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001001658, RefSeq RNA:NM_001001658, UniProtKB:A4D2H9, UniProtKB:Q8NGT5 No chr7 142723287 142724219 143026200 143027132 +PA32786 392106 HGNC:15094 ENSG00000240031 olfactory receptor, family 9, subfamily A, member 3 pseudogene OR9A3P Yes No Ensembl:ENSG00000240031, GenAtlas:OR9A3P, GeneCard:OR9A3P, HGNC:HGNC:15094, NCBI Gene:392106, RefSeq DNA:NG_004372, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 141562659 141563618 141862859 141863818 +PA32787 130075 HGNC:15095 ENSG00000258083 olfactory receptor family 9 subfamily A member 4 OR9A4 olfactory receptor, family 9, subfamily A, member 4 Yes No Ensembl:ENSG00000258083, GenAtlas:OR9A4, GeneCard:OR9A4, HGNC:HGNC:15095, ModBase:Q8NGU2, NCBI Gene:130075, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001001656, RefSeq RNA:NM_001001656, UniProtKB:Q8NGU2 No chr7 141618676 141619620 141918876 141919820 +PA32788 390174 HGNC:15319 ENSG00000174914 olfactory receptor family 9 subfamily G member 1 OR9G1 olfactory receptor, family 9, subfamily G, member 1 OR9G5 Yes No Ensembl:ENSG00000174914, GenAtlas:OR9G1, GeneCard:OR9G1, HGNC:HGNC:15319, ModBase:Q8NH87, NCBI Gene:390174, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005213, RefSeq RNA:NM_001005213, UniProtKB:Q8NH87 No chr11 56467864 56468781 56700388 56701305 +PA32789 81160 HGNC:15320 ENSG00000254825 olfactory receptor, family 9, subfamily G, member 2 pseudogene OR9G2P Yes No Ensembl:ENSG00000254825, GenAtlas:OR9G2P, GeneCard:OR9G2P, HGNC:HGNC:15320, NCBI Gene:81160, RefSeq DNA:NG_004180, RefSeq DNA:NT_167190 No chr11 56518473 56519460 56750997 56751984 +PA32790 81159 HGNC:15321 ENSG00000181325 olfactory receptor, family 9, subfamily G, member 3 pseudogene OR9G3P Yes No Ensembl:ENSG00000181325, GenAtlas:OR9G3P, GeneCard:OR9G3P, HGNC:HGNC:15321, NCBI Gene:81159, RefSeq DNA:NG_004179, RefSeq DNA:NT_167190 No chr11 56507656 56508569 56740180 56741093 +PA32791 283189 HGNC:15322 ENSG00000172457 olfactory receptor family 9 subfamily G member 4 OR9G4 olfactory receptor, family 9, subfamily G, member 4 Yes No Ensembl:ENSG00000172457, GenAtlas:OR9G4, GeneCard:OR9G4, HGNC:HGNC:15322, ModBase:Q8NGQ1, NCBI Gene:283189, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005284, RefSeq RNA:NM_001005284, UniProtKB:Q8NGQ1 No chr11 56510304 56511287 56742828 56743811 +PA142671224 504191 HGNC:31940 ENSG00000262191 olfactory receptor family 9 subfamily G member 9 OR9G9 olfactory receptor, family 9, subfamily G, member 9 Yes No Ensembl:ENSG00000262191, GeneCard:OR9G9, HGNC:HGNC:31940, ModBase:P0C7N8, NCBI Gene:504191, RefSeq DNA:NT_167190, RefSeq Protein:NP_001013376, RefSeq RNA:NM_001013358, UniProtKB:P0C7N8 No chr11 18234 19151 18234 19151 +PA32793 81439 HGNC:15038 ENSG00000228336 olfactory receptor family 9 subfamily H member 1 pseudogene (gene/pseudogene) OR9H1 olfactory receptor, family 9, subfamily H, member 1 pseudogene OR9H1P Yes No Ensembl:ENSG00000228336, GenAtlas:OR9H1P, GeneCard:OR9H1P, HGNC:HGNC:15038, NCBI Gene:81439, RefSeq DNA:NG_004269, RefSeq DNA:NT_167186 No chr1 247938213 247939136 247774911 247775834 +PA32794 219954 HGNC:14718 ENSG00000172377 olfactory receptor family 9 subfamily I member 1 OR9I1 olfactory receptor, family 9, subfamily I, member 1 Yes No Ensembl:ENSG00000172377, GenAtlas:OR9I1, GeneCard:OR9I1, HGNC:HGNC:14718, ModBase:Q8NGQ6, NCBI Gene:219954, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005211, RefSeq RNA:NM_001005211, UniProtKB:Q8NGQ6 No chr11 57885972 57886916 58118500 58119444 +PA32795 81156 HGNC:15324 ENSG00000186508 olfactory receptor, family 9, subfamily I, member 2 pseudogene OR9I2P Yes No Ensembl:ENSG00000186508, GenAtlas:OR9I2P, GeneCard:OR9I2P, HGNC:HGNC:15324, NCBI Gene:81156, RefSeq DNA:NG_002279, RefSeq DNA:NT_167190 No chr11 57912321 57912806 58144849 58145334 +PA32796 81155 HGNC:15325 ENSG00000272685 olfactory receptor, family 9, subfamily I, member 3 pseudogene OR9I3P OST714 Yes No Ensembl:ENSG00000272685, GenAtlas:OR9I3P, GeneCard:OR9I3P, HGNC:HGNC:15325, NCBI Gene:81155, RefSeq DNA:NG_004178, RefSeq DNA:NT_167190 No chr11 57876192 57877133 58108720 58109661 +PA32798 121360 HGNC:15338 ENSG00000196534 olfactory receptor, family 9, subfamily K, member 1 pseudogene OR9K1P Yes No Ensembl:ENSG00000196534, GenAtlas:OR9K1P, GeneCard:OR9K1P, HGNC:HGNC:15338, NCBI Gene:121360, RefSeq DNA:NG_004285, RefSeq DNA:NT_029419 No chr12 55509318 55510256 55115534 55116472 +PA32799 441639 HGNC:15339 ENSG00000170605 olfactory receptor family 9 subfamily K member 2 OR9K2 olfactory receptor, family 9, subfamily K, member 2 Yes No Ensembl:ENSG00000170605, GenAtlas:OR9K2, GeneCard:OR9K2, HGNC:HGNC:15339, ModBase:Q8NGE7, NCBI Gene:441639, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005243, RefSeq RNA:NM_001005243, UniProtKB:Q8NGE7 No chr12 55523553 55524560 55129769 55130776 +PA32800 79301 HGNC:14761 ENSG00000255131 olfactory receptor, family 9, subfamily L, member 1 pseudogene OR9L1P Yes No Ensembl:ENSG00000255131, GenAtlas:OR9L1P, GeneCard:OR9L1P, HGNC:HGNC:14761, NCBI Gene:79301, RefSeq DNA:NG_002233, RefSeq DNA:NT_167190 No chr11 57844822 57846078 58077350 58078606 +PA32802 81153 HGNC:15327 ENSG00000186124 olfactory receptor, family 9, subfamily M, member 1, pseudogene OR9M1P Yes No Ensembl:ENSG00000186124, GenAtlas:OR9M1P, GeneCard:OR9M1P, HGNC:HGNC:15327, NCBI Gene:81153, RefSeq DNA:NG_004177, RefSeq DNA:NT_167190 No chr11 55623068 55623997 55855592 55856521 +PA32803 81383 HGNC:15096 ENSG00000244292 olfactory receptor, family 9, subfamily N, member 1 pseudogene OR9N1P Yes No Ensembl:ENSG00000244292, GenAtlas:OR9N1P, GeneCard:OR9N1P, HGNC:HGNC:15096, NCBI Gene:81383, RefSeq DNA:NG_004258, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 141611202 141611822 141911402 141912022 +PA32804 81382 HGNC:15097 ENSG00000239293 olfactory receptor, family 9, subfamily P, member 1 pseudogene OR9P1P Yes No Ensembl:ENSG00000239293, GenAtlas:OR9P1P, GeneCard:OR9P1P, HGNC:HGNC:15097, NCBI Gene:81382, RefSeq DNA:NG_004257, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142744168 142744873 143047067 143047772 +PA32805 219956 HGNC:14724 ENSG00000186509 olfactory receptor family 9 subfamily Q member 1 OR9Q1 olfactory receptor, family 9, subfamily Q, member 1 Yes No Ensembl:ENSG00000186509, GenAtlas:OR9Q1, GeneCard:OR9Q1, HGNC:HGNC:14724, ModBase:Q8NGQ5, NCBI Gene:219956, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005212, RefSeq RNA:NM_001005212, UniProtKB:Q8NGQ5 No chr11 57791353 57949059 58023881 58181587 +PA32806 219957 HGNC:15328 ENSG00000186513 olfactory receptor family 9 subfamily Q member 2 OR9Q2 olfactory receptor, family 9, subfamily Q, member 2 OR9Q2P Yes No Ensembl:ENSG00000186513, GenAtlas:OR9Q2, GeneCard:OR9Q2, HGNC:HGNC:15328, ModBase:Q8NGE9, NCBI Gene:219957, RefSeq DNA:NT_167190, RefSeq Protein:NP_001005283, RefSeq RNA:NM_001005283, UniProtKB:Q8NGE9 No chr11 57957906 57958990 58190434 58191518 +PA32807 81140 HGNC:15340 ENSG00000224622 olfactory receptor, family 9, subfamily R, member 1 pseudogene OR9R1P Yes No Ensembl:ENSG00000224622, GenAtlas:OR9R1P, GeneCard:OR9R1P, HGNC:HGNC:15340, NCBI Gene:81140, RefSeq DNA:NG_004176, RefSeq DNA:NT_029419 No chr12 55552632 55553585 55158848 55159801 +PA134934981 403275 HGNC:31288 ENSG00000231278 olfactory receptor, family 9, subfamily S, member 24 pseudogene OR9S24P Yes No Ensembl:ENSG00000231278, HGNC:HGNC:31288, NCBI Gene:403275 No chr2 241018850 241019777 240079433 240080360 +PA162398445 84876 HGNC:25896 ENSG00000276045 ORAI calcium release-activated calcium modulator 1 ORAI1 calcium release-activated calcium modulator 1 CRACM1, FLJ14466, TMEM142A Yes Yes Ensembl:ENSG00000276045, GeneCard:ORAI1, HGNC:HGNC:25896, ModBase:Q96D31, NCBI Gene:84876, OMIM:610277, OMIM:612782, RefSeq DNA:NG_007500, RefSeq DNA:NT_009775, RefSeq Protein:NP_116179, RefSeq RNA:NM_032790, UniProtKB:Q96D31 No chr12 122064455 122079946 121626550 121642040 +PA162398454 80228 HGNC:21667 ENSG00000160991 ORAI calcium release-activated calcium modulator 2 ORAI2 CAP-binding protein complex interacting protein 2 C7orf19, CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8, TMEM142B Yes No Ensembl:ENSG00000160991, GeneCard:ORAI2, HGNC:HGNC:21667, HumanCyc Gene:HS14841, NCBI Gene:80228, OMIM:610929, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001119812, RefSeq Protein:NP_116220, RefSeq RNA:NM_001126340, RefSeq RNA:NM_032831, UniProtKB:Q96SN7, UniProtKB:Q9H9Y3 No chr7 102073977 102097268 102433530 102456821 +PA162398465 93129 HGNC:28185 ENSG00000175938 ORAI calcium release-activated calcium modulator 3 ORAI3 MGC13024, TMEM142C Yes No Ensembl:ENSG00000175938, GeneCard:ORAI3, HGNC:HGNC:28185, HumanCyc Gene:HS16551, ModBase:Q9BRQ5, NCBI Gene:93129, OMIM:610930, RefSeq DNA:NT_010393, RefSeq Protein:NP_689501, RefSeq RNA:NM_152288, UniProtKB:Q9BRQ5 No chr16 30960405 30966259 30949084 30954938 +PA32808 4998 HGNC:8487 ENSG00000085840 origin recognition complex subunit 1 ORC1 """origin recognition complex 1"", ""origin recognition complex, subunit 1"", ""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""replication control protein 1""" HSORC1, ORC1L, PARC1 Yes No Comparative Toxicogenomics Database:4998, Ensembl:ENSG00000085840, GenAtlas:ORC1L, GeneCard:ORC1L, HGNC:HGNC:8487, HumanCyc Gene:HS01511, ModBase:Q13415, NCBI Gene:4998, OMIM:601902, RefSeq DNA:NT_032977, RefSeq Protein:NP_001177747, RefSeq Protein:NP_001177748, RefSeq Protein:NP_004144, RefSeq RNA:NM_001190818, RefSeq RNA:NM_001190819, RefSeq RNA:NM_004153, UCSC Genome Browser:NM_004153, UniProtKB:Q13415 No chr1 52838501 52870143 52371408 52404471 +PA32809 4999 HGNC:8488 ENSG00000115942 origin recognition complex subunit 2 ORC2 origin recognition complex, subunit 2 ORC2L Yes No Ensembl:ENSG00000115942, GenAtlas:ORC2L, GeneCard:ORC2L, HGNC:HGNC:8488, HumanCyc Gene:HS03955, ModBase:Q13416, NCBI Gene:4999, OMIM:601182, RefSeq DNA:NT_005403, RefSeq Protein:NP_006181, RefSeq RNA:NM_006190, RefSeq RNA:NR_033915, UCSC Genome Browser:NM_006190, UniProtKB:Q13416 No chr2 201774894 201828424 200908981 200963703 +PA32810 23595 HGNC:8489 ENSG00000135336 origin recognition complex subunit 3 ORC3 origin recognition complex, subunit 3 IMAGE50150, LATHEO, ORC3L Yes No Comparative Toxicogenomics Database:23595, Ensembl:ENSG00000135336, GenAtlas:ORC3L, GeneCard:ORC3L, HGNC:HGNC:8489, HumanCyc Gene:HS05983, ModBase:Q9UNT6, NCBI Gene:23595, OMIM:604972, RefSeq DNA:NT_007299, RefSeq Protein:NP_001184188, RefSeq Protein:NP_036513, RefSeq Protein:NP_862820, RefSeq RNA:NM_001197259, RefSeq RNA:NM_012381, RefSeq RNA:NM_181837, UCSC Genome Browser:NM_012381, UniProtKB:Q9UBD5 No chr6 88299785 88377172 87590067 87677824 +PA32811 5000 HGNC:8490 ENSG00000115947 origin recognition complex subunit 4 ORC4 origin recognition complex, subunit 4 HsORC4, ORC4L, Orc4p Yes No Comparative Toxicogenomics Database:5000, Ensembl:ENSG00000115947, GenAtlas:ORC4L, GeneCard:ORC4L, HGNC:HGNC:8490, HumanCyc Gene:HS03958, ModBase:O43929, NCBI Gene:5000, OMIM:603056, RefSeq DNA:NT_022135, RefSeq Protein:NP_001177808, RefSeq Protein:NP_001177810, RefSeq Protein:NP_001177811, RefSeq Protein:NP_002543, RefSeq Protein:NP_859525, RefSeq Protein:NP_859526, RefSeq RNA:NM_001190879, RefSeq RNA:NM_001190881, RefSeq RNA:NM_001190882, RefSeq RNA:NM_002552, RefSeq RNA:NM_181741, RefSeq RNA:NM_181742, UCSC Genome Browser:NM_002552, UniProtKB:O43929 No chr2 148687966 148779173 147930397 148021604 +PA32812 5001 HGNC:8491 ENSG00000164815 origin recognition complex subunit 5 ORC5 """origin recognition complex, subunit 5"", ""protein phosphatase 1, regulatory subunit 117""" ORC5L, ORC5T, Orc5p, PPP1R117 Yes No Ensembl:ENSG00000164815, GenAtlas:ORC5L, GeneCard:ORC5L, HGNC:HGNC:8491, HumanCyc Gene:HS09139, ModBase:O43913, NCBI Gene:5001, OMIM:602331, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_002544, RefSeq Protein:NP_859531, RefSeq RNA:NM_002553, RefSeq RNA:NM_181747, UCSC Genome Browser:NM_002553, UniProtKB:A4D0P7, UniProtKB:A4D0P8, UniProtKB:O43913, UniProtKB:O95268 No chr7 103766788 103848495 104126341 104208047 +PA32813 23594 HGNC:17151 ENSG00000091651 origin recognition complex subunit 6 ORC6 origin recognition complex, subunit 6 ORC6L Yes No Comparative Toxicogenomics Database:23594, Ensembl:ENSG00000091651, GenAtlas:ORC6L, GeneCard:ORC6L, HGNC:HGNC:17151, HumanCyc Gene:HS01743, ModBase:Q9Y5N6, NCBI Gene:23594, OMIM:607213, RefSeq DNA:NT_010498, RefSeq Protein:NP_055136, RefSeq RNA:NM_014321, RefSeq RNA:NR_037620, UCSC Genome Browser:NM_014321, UniProtKB:Q9Y5N6 No chr16 46723558 46732306 46689646 46698394 +PA260 5004 HGNC:8498 ENSG00000229314 orosomucoid 1 ORM1 Alpha-1-acid glycoprotein 1 A1AG1 Yes Yes Comparative Toxicogenomics Database:5004, Ensembl:ENSG00000229314, GenAtlas:ORM1, GeneCard:ORM1, HGNC:HGNC:8498, ModBase:P02763, NCBI Gene:5004, OMIM:138600, RefSeq DNA:NG_012108, RefSeq DNA:NT_008470, RefSeq Protein:NP_000598, RefSeq RNA:NM_000607, UCSC Genome Browser:NM_000607, UniProtKB:P02763, UniProtKB:Q5T539 No chr9 117085303 117088759 114323023 114326479 +PA32818 5005 HGNC:8499 ENSG00000228278 orosomucoid 2 ORM2 alpha-1-acid glycoprotein, type 2 AGP-B, AGP-B', AGP2 Yes Yes Comparative Toxicogenomics Database:5005, Ensembl:ENSG00000228278, GenAtlas:ORM2, GeneCard:ORM2, HGNC:HGNC:8499, ModBase:P19652, NCBI Gene:5005, OMIM:138610, RefSeq DNA:NT_008470, RefSeq Protein:NP_000599, RefSeq RNA:NM_000608, UCSC Genome Browser:NM_000608, UniProtKB:P19652, UniProtKB:Q5T538 No chr9 117092069 117095536 114329789 114333256 +PA32819 94101 HGNC:16036 ENSG00000128699 ORMDL sphingolipid biosynthesis regulator 1 ORMDL1 ORM1-like 1 (S. cerevisiae) Yes Yes Comparative Toxicogenomics Database:94101, Ensembl:ENSG00000128699, GenAtlas:ORMDL1, GeneCard:ORMDL1, HGNC:HGNC:16036, NCBI Gene:94101, OMIM:610073, RefSeq DNA:NT_005403, RefSeq Protein:NP_001121622, RefSeq Protein:NP_057551, RefSeq RNA:NM_001128150, RefSeq RNA:NM_016467, UniProtKB:Q9P0S3 No chr2 190634993 190649097 189766149 189784371 +PA32820 29095 HGNC:16037 ENSG00000123353 ORMDL sphingolipid biosynthesis regulator 2 ORMDL2 ORM1-like 2 (S. cerevisiae) HSPC160, MST095, MSTP095, adoplin-2 Yes No Comparative Toxicogenomics Database:29095, Ensembl:ENSG00000123353, GenAtlas:ORMDL2, GeneCard:ORMDL2, HGNC:HGNC:16037, HumanCyc Gene:HS13087, NCBI Gene:29095, OMIM:610074, RefSeq DNA:NT_029419, RefSeq Protein:NP_054901, RefSeq RNA:NM_014182, UCSC Genome Browser:NM_014182, UniProtKB:Q53FV1 No chr12 56211806 56214959 55818022 55821175 +PA32821 94103 HGNC:16038 ENSG00000172057 ORMDL sphingolipid biosynthesis regulator 3 ORMDL3 ORM1-like 3 (S. cerevisiae) Yes Yes Comparative Toxicogenomics Database:94103, Ensembl:ENSG00000172057, GenAtlas:ORMDL3, GeneCard:ORMDL3, HGNC:HGNC:16038, HumanCyc Gene:HS16051, NCBI Gene:94103, OMIM:610075, RefSeq DNA:NT_010783, RefSeq Protein:NP_644809, RefSeq RNA:NM_139280, UCSC Genome Browser:NM_139280, UniProtKB:Q8N138 No chr17 38077294 38083884 39921041 39927804 +PA164724245 10956 HGNC:16994 ENSG00000135506 OS9 endoplasmic reticulum lectin OS9 """OS9, endoplasmic reticulum lectin"", ""endoplasmic reticulum lectin 2"", ""erlectin 2"", ""osteosarcoma amplified 9, endoplasmic reticulum lectin""" ERLEC2, OS-9 Yes No Ensembl:ENSG00000135506, GeneCard:OS9, HGNC:HGNC:16994, HumanCyc Gene:HS06022, NCBI Gene:10956, OMIM:609677, RefSeq DNA:NT_029419, RefSeq Protein:NP_001017956, RefSeq Protein:NP_001017957, RefSeq Protein:NP_001017958, RefSeq Protein:NP_006803, RefSeq RNA:NM_001017956, RefSeq RNA:NM_001017957, RefSeq RNA:NM_001017958, RefSeq RNA:NM_006812, UniProtKB:A6NLB2, UniProtKB:Q13438, UniProtKB:Q9BW99 No chr12 58087738 58115340 57693955 57721557 +PA32822 5007 HGNC:8503 ENSG00000110048 oxysterol binding protein OSBP OSBP1 Yes No Ensembl:ENSG00000110048, GenAtlas:OSBP, GeneCard:OSBP, HGNC:HGNC:8503, HumanCyc Gene:HS03281, ModBase:P22059, NCBI Gene:5007, OMIM:167040, RefSeq DNA:NT_167190, RefSeq Protein:NP_002547, RefSeq RNA:NM_002556, UCSC Genome Browser:NM_002556, UniProtKB:P22059 No chr11 59341871 59383617 59574398 59616144 +PA32823 23762 HGNC:8504 ENSG00000184792 oxysterol binding protein 2 OSBP2 KIAA1664, ORP-4, ORP4, OSBPL1 Yes No Ensembl:ENSG00000184792, GenAtlas:OSBP2, GeneCard:OSBP2, HGNC:HGNC:8504, ModBase:Q969R2, NCBI Gene:23762, OMIM:606729, RefSeq DNA:NT_011520, RefSeq Protein:NP_110385, RefSeq RNA:NM_030758, UCSC Genome Browser:NM_030758, UniProtKB:Q969R2 No chr22 31089769 31303811 30693782 30907824 +PA32824 114884 HGNC:16395 ENSG00000144645 oxysterol binding protein like 10 OSBPL10 oxysterol binding protein-like 10 Yes No Comparative Toxicogenomics Database:114884, Ensembl:ENSG00000144645, GenAtlas:OSBPL10, GeneCard:OSBPL10, HGNC:HGNC:16395, HumanCyc Gene:HS07186, ModBase:Q9BXB5, NCBI Gene:114884, OMIM:606738, RefSeq DNA:NT_022517, RefSeq Protein:NP_001167531, RefSeq Protein:NP_060254, RefSeq RNA:NM_001174060, RefSeq RNA:NM_017784, UCSC Genome Browser:NM_017784, UniProtKB:B4E212, UniProtKB:Q9BXB5, UniProtKB:Q9NX98 No chr3 31702317 32023342 31660825 31981850 +PA32825 114885 HGNC:16397 ENSG00000144909 oxysterol binding protein like 11 OSBPL11 oxysterol binding protein-like 11 FLJ13012, FLJ13164, ORP-11, ORP11 Yes No Comparative Toxicogenomics Database:114885, Ensembl:ENSG00000144909, GenAtlas:OSBPL11, GeneCard:OSBPL11, HGNC:HGNC:16397, HumanCyc Gene:HS07218, ModBase:Q9BXB4, NCBI Gene:114885, OMIM:606739, RefSeq DNA:NT_005612, RefSeq Protein:NP_073613, RefSeq RNA:NM_022776, UCSC Genome Browser:NM_022776, UniProtKB:Q9BXB4 No chr3 125247702 125314381 125528858 125595537 +PA32826 114876 HGNC:16398 ENSG00000141447 oxysterol binding protein like 1A OSBPL1A oxysterol binding protein-like 1A ORP-1, ORP1, OSBPL1B Yes No Comparative Toxicogenomics Database:114876, Ensembl:ENSG00000141447, GenAtlas:OSBPL1A, GeneCard:OSBPL1A, HGNC:HGNC:16398, HumanCyc Gene:HS06829, ModBase:Q9BXW6, NCBI Gene:114876, OMIM:606730, RefSeq DNA:NT_010966, RefSeq Protein:NP_001229437, RefSeq Protein:NP_060500, RefSeq Protein:NP_542164, RefSeq RNA:NM_001242508, RefSeq RNA:NM_018030, RefSeq RNA:NM_080597, UCSC Genome Browser:NM_018030, UniProtKB:B0YJ56, UniProtKB:Q6GSK5, UniProtKB:Q9BXW6 No chr18 21742009 21977846 24162045 24397882 +PA32827 9885 HGNC:15761 ENSG00000130703 oxysterol binding protein like 2 OSBPL2 oxysterol binding protein-like 2 DFNA67, KIAA0772, ORP-2 Yes No Comparative Toxicogenomics Database:9885, Ensembl:ENSG00000130703, GenAtlas:OSBPL2, GeneCard:OSBPL2, HGNC:HGNC:15761, HumanCyc Gene:HS05423, ModBase:Q9H1P3, NCBI Gene:9885, OMIM:606731, RefSeq DNA:NT_011362, RefSeq Protein:NP_055650, RefSeq Protein:NP_653081, RefSeq RNA:NM_014835, RefSeq RNA:NM_144498, UCSC Genome Browser:NM_014835, UniProtKB:Q9H1P3 No chr20 60813541 60871269 62238485 62296213 +PA32828 26031 HGNC:16370 ENSG00000070882 oxysterol binding protein like 3 OSBPL3 oxysterol binding protein-like 3 KIAA0704, ORP-3, ORP3, OSBP3 Yes No Comparative Toxicogenomics Database:26031, Ensembl:ENSG00000070882, GenAtlas:OSBPL3, GeneCard:OSBPL3, HGNC:HGNC:16370, HumanCyc Gene:HS01016, ModBase:Q8NFH1, NCBI Gene:26031, OMIM:606732, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_056365, RefSeq Protein:NP_663160, RefSeq Protein:NP_663161, RefSeq Protein:NP_663162, RefSeq RNA:NM_015550, RefSeq RNA:NM_145320, RefSeq RNA:NM_145321, RefSeq RNA:NM_145322, UCSC Genome Browser:NM_015550, UniProtKB:Q9H4L5 No chr7 24836159 25019818 24796537 24980218 +PA32829 114879 HGNC:16392 ENSG00000021762 oxysterol binding protein like 5 OSBPL5 oxysterol binding protein homologue 1, oxysterol binding protein-like 5 KIAA1534, OBPH1, ORP5 Yes No Comparative Toxicogenomics Database:114879, Ensembl:ENSG00000021762, GenAtlas:OSBPL5, GeneCard:OSBPL5, HGNC:HGNC:16392, HumanCyc Gene:HS00414, ModBase:Q9H0X9, NCBI Gene:114879, OMIM:606733, RefSeq DNA:NG_009548, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137535, RefSeq Protein:NP_065947, RefSeq Protein:NP_663613, RefSeq RNA:NM_001144063, RefSeq RNA:NM_020896, RefSeq RNA:NM_145638, UCSC Genome Browser:NM_020896, UniProtKB:A8KAD5, UniProtKB:Q8N596, UniProtKB:Q9H0X9 No chr11 3108345 3186582 3087116 3165352 +PA32830 114880 HGNC:16388 ENSG00000079156 oxysterol binding protein like 6 OSBPL6 OSBP-related protein 6, oxysterol binding protein-like 6 ORP6 Yes No Ensembl:ENSG00000079156, GenAtlas:OSBPL6, GeneCard:OSBPL6, HGNC:HGNC:16388, HumanCyc Gene:HS01314, ModBase:Q9BZF3, NCBI Gene:114880, OMIM:606734, RefSeq DNA:NT_005403, RefSeq Protein:NP_001188409, RefSeq Protein:NP_001188410, RefSeq Protein:NP_001188411, RefSeq Protein:NP_115912, RefSeq Protein:NP_665682, RefSeq RNA:NM_001201480, RefSeq RNA:NM_001201481, RefSeq RNA:NM_001201482, RefSeq RNA:NM_032523, RefSeq RNA:NM_145739, UCSC Genome Browser:NM_032523, UniProtKB:Q9BZF3 No chr2 179059208 179264160 178194479 178399433 +PA32831 114881 HGNC:16387 ENSG00000006025 oxysterol binding protein like 7 OSBPL7 oxysterol binding protein-like 7 MGC71150, ORP7 Yes No Ensembl:ENSG00000006025, GenAtlas:OSBPL7, GeneCard:OSBPL7, HGNC:HGNC:16387, HumanCyc Gene:HS00159, ModBase:Q9BZF2, NCBI Gene:114881, OMIM:606735, RefSeq DNA:NT_010783, RefSeq Protein:NP_665741, RefSeq RNA:NM_145798, UCSC Genome Browser:NM_017731, UniProtKB:Q8WXP9, UniProtKB:Q9BZF2 No chr17 45884733 45899169 47807367 47821822 +PA32832 114882 HGNC:16396 ENSG00000091039 oxysterol binding protein like 8 OSBPL8 oxysterol binding protein-like 8 MST120, MSTP120, ORP8, OSBP10 Yes No Comparative Toxicogenomics Database:114882, Ensembl:ENSG00000091039, GenAtlas:OSBPL8, GeneCard:OSBPL8, HGNC:HGNC:16396, HumanCyc Gene:HS01717, ModBase:Q9BZF1, NCBI Gene:114882, OMIM:606736, RefSeq DNA:NT_029419, RefSeq Protein:NP_001003712, RefSeq Protein:NP_065892, RefSeq RNA:NM_001003712, RefSeq RNA:NM_020841, UCSC Genome Browser:NM_020841, UniProtKB:Q5HYM3, UniProtKB:Q9BZF1 No chr12 76745577 76953589 76351797 76559809 +PA32833 114883 HGNC:16386 ENSG00000117859 oxysterol binding protein like 9 OSBPL9 oxysterol binding protein-like 9 Yes No Comparative Toxicogenomics Database:114883, Ensembl:ENSG00000117859, GenAtlas:OSBPL9, GeneCard:OSBPL9, HGNC:HGNC:16386, HumanCyc Gene:HS04175, ModBase:Q96SU4, NCBI Gene:114883, OMIM:606737, RefSeq DNA:NT_032977, RefSeq Protein:NP_078862, RefSeq Protein:NP_683702, RefSeq Protein:NP_683703, RefSeq Protein:NP_683704, RefSeq Protein:NP_683705, RefSeq Protein:NP_683706, RefSeq Protein:NP_683707, RefSeq RNA:NM_024586, RefSeq RNA:NM_148904, RefSeq RNA:NM_148905, RefSeq RNA:NM_148906, RefSeq RNA:NM_148907, RefSeq RNA:NM_148908, RefSeq RNA:NM_148909, RefSeq RNA:NR_036662, UCSC Genome Browser:NM_024586, UniProtKB:B3KPQ4, UniProtKB:Q96SU4 No chr1 52082546 52254891 51616874 51789219 +PA162398474 126014 HGNC:29960 ENSG00000170909 osteoclast associated Ig-like receptor OSCAR osteoclast associated, immunoglobulin-like receptor Yes No Ensembl:ENSG00000170909, GeneCard:OSCAR, HGNC:HGNC:29960, HumanCyc Gene:HS10205, NCBI Gene:126014, OMIM:606862, RefSeq DNA:NT_011109, RefSeq Protein:NP_570127, RefSeq Protein:NP_573398, RefSeq Protein:NP_573399, RefSeq Protein:NP_996554, RefSeq RNA:NM_130771, RefSeq RNA:NM_133168, RefSeq RNA:NM_133169, RefSeq RNA:NM_206818, UniProtKB:A8MPS0, UniProtKB:Q8IYS5 No chr19 54597933 54604159 54094668 54102686 +PA165752125 127700 HGNC:29971 ENSG00000116885 organic solute carrier partner 1 OSCP1 oxidored nitro domain containing protein C1orf102, NOR1 Yes No Ensembl:ENSG00000116885, GeneCard:OSCP1, HGNC:HGNC:29971, HumanCyc Gene:HS12886, NCBI Gene:127700, OMIM:608854, RefSeq DNA:NT_032977, RefSeq Protein:NP_659484, RefSeq Protein:NP_996668, RefSeq RNA:NM_145047, RefSeq RNA:NM_206837, UniProtKB:A6NIN9, UniProtKB:Q8WVF1 No chr1 36883507 36916086 36417906 36450485 +PA25651 51526 HGNC:16105 ENSG00000132823 oxidative stress responsive serine rich 1 OSER1 chromosome 20 open reading frame 111, oxidative stress responsive serine-rich 1, oxidative stress-responsive 1, peroxide-inducible transcript 1 C20orf111, HSPC207, Osr1, Perit1, dJ1183I21.1 Yes No Ensembl:ENSG00000132823, GenAtlas:C20orf111, GeneCard:C20orf111, HGNC:HGNC:16105, HumanCyc Gene:HS13447, ModBase:Q9NX31, NCBI Gene:51526, RefSeq DNA:NT_011362, RefSeq Protein:NP_057554, RefSeq RNA:NM_016470, UCSC Genome Browser:NM_016470, UniProtKB:Q9NX31 No chr20 42824579 42839702 44195939 44217229 +PA32834 55644 HGNC:18028 ENSG00000092094 O-sialoglycoprotein endopeptidase OSGEP GCPL1, KAE1, OSGEP1, PRSMG1, TCS3 Yes No Comparative Toxicogenomics Database:55644, Ensembl:ENSG00000092094, GenAtlas:OSGEP, GeneCard:OSGEP, HGNC:HGNC:18028, HumanCyc Gene:HS01757, ModBase:Q9NPF4, NCBI Gene:55644, OMIM:610107, RefSeq DNA:NT_026437, RefSeq Protein:NP_060277, RefSeq RNA:NM_017807, UCSC Genome Browser:NM_017807, UniProtKB:Q9NPF4 No chr14 20915207 20923267 20447048 20455108 +PA134959704 64172 HGNC:23075 ENSG00000128694 O-sialoglycoprotein endopeptidase like 1 OSGEPL1 O-sialoglycoprotein endopeptidase-like 1 OSGEPL, Qri7 Yes No Ensembl:ENSG00000128694, GeneCard:OSGEPL1, HGNC:HGNC:23075, HumanCyc Gene:HS05216, ModBase:Q9H4B0, NCBI Gene:64172, RefSeq DNA:NT_005403, RefSeq Protein:NP_071748, RefSeq RNA:NM_022353, UniProtKB:Q9H4B0 No chr2 190611386 190628020 189746660 189763198 +PA162398489 29948 HGNC:30093 ENSG00000140961 oxidative stress induced growth inhibitor 1 OSGIN1 bone marrow stromal cell-derived growth inhibitor, pregnancy induced growth inhibitor BDGI, OKL38 Yes No Ensembl:ENSG00000140961, GeneCard:OSGIN1, HGNC:HGNC:30093, HumanCyc Gene:HS13854, ModBase:Q9UJX0, NCBI Gene:29948, OMIM:607975, RefSeq DNA:NT_010498, RefSeq Protein:NP_037502, RefSeq Protein:NP_892025, RefSeq Protein:NP_892026, RefSeq RNA:NM_013370, RefSeq RNA:NM_182980, RefSeq RNA:NM_182981, UniProtKB:Q52M33, UniProtKB:Q9UJX0 No chr16 83982594 83999937 83953222 83966332 +PA162398506 734 HGNC:1355 ENSG00000164823 oxidative stress induced growth inhibitor family member 2 OSGIN2 C8orf1, hT41 Yes No Ensembl:ENSG00000164823, GeneCard:OSGIN2, HGNC:HGNC:1355, HumanCyc Gene:HS09143, ModBase:Q9Y236, NCBI Gene:734, OMIM:604598, RefSeq DNA:NT_008046, RefSeq Protein:NP_001119583, RefSeq Protein:NP_004328, RefSeq RNA:NM_001126111, RefSeq RNA:NM_004337, UniProtKB:Q9Y236 No chr8 90914096 90940096 89901868 89927888 +PA32836 5008 HGNC:8506 ENSG00000099985 oncostatin M OSM MGC20461 Yes No Comparative Toxicogenomics Database:5008, Ensembl:ENSG00000099985, GenAtlas:OSM, GeneCard:OSM, HGNC:HGNC:8506, HumanCyc Gene:HS01944, ModBase:P13725, NCBI Gene:5008, OMIM:165095, RefSeq DNA:NT_011520, RefSeq Protein:NP_065391, RefSeq RNA:NM_020530, UCSC Genome Browser:NM_020530, UniProtKB:P13725 No chr22 30658817 30662829 30262828 30266843 +PA32837 9180 HGNC:8507 ENSG00000145623 oncostatin M receptor OSMR Oncostatin-M-specific receptor subunit beta OSMRB, OSMRbeta Yes Yes Comparative Toxicogenomics Database:9180, Ensembl:ENSG00000145623, GenAtlas:OSMR, GeneCard:OSMR, HGNC:HGNC:8507, HumanCyc Gene:HS07265, ModBase:Q99650, NCBI Gene:9180, OMIM:105250, OMIM:601743, RefSeq DNA:NG_016236, RefSeq DNA:NT_006576, RefSeq Protein:NP_001161827, RefSeq Protein:NP_003990, RefSeq RNA:NM_001168355, RefSeq RNA:NM_003999, UCSC Genome Browser:NM_003999, UniProtKB:Q99650 No chr5 38845960 38935743 38845858 38945579 +PA164742217 130497 HGNC:8111 ENSG00000143867 odd-skipped related transcription factor 1 OSR1 odd-skipped related 1 (Drosophila), odd-skipped related transciption factor 1 ODD Yes No Ensembl:ENSG00000143867, GeneCard:OSR1, HGNC:HGNC:8111, HumanCyc Gene:HS07120, ModBase:Q8TAX0, NCBI Gene:130497, OMIM:608891, RefSeq DNA:NT_015926, RefSeq Protein:NP_660303, RefSeq RNA:NM_145260, UniProtKB:Q8TAX0 No chr2 19551246 19558372 19351485 19358611 +PA134924513 116039 HGNC:15830 ENSG00000164920 odd-skipped related transciption factor 2 OSR2 odd-skipped related 2 (Drosophila) FLJ90037 Yes No Comparative Toxicogenomics Database:116039, Ensembl:ENSG00000164920, GeneCard:OSR2, HGNC:HGNC:15830, HumanCyc Gene:HS09159, ModBase:Q8N2R0, NCBI Gene:116039, OMIM:611297, RefSeq DNA:NT_008046, RefSeq Protein:NP_001135934, RefSeq Protein:NP_443727, RefSeq RNA:NM_001142462, RefSeq RNA:NM_053001, UniProtKB:Q8N2R0 No chr8 99956631 99964338 98944403 98952104 +PA165697090 100128731 HGNC:32483 ENSG00000228474 oligosaccharyltransferase complex subunit 4, non-catalytic OST4 oligosaccharyltransferase 4 homolog (S. cerevisiae) Yes No Ensembl:ENSG00000228474, GeneCard:OST4, HGNC:HGNC:32483, NCBI Gene:100128731, RefSeq DNA:NT_022184, RefSeq Protein:NP_001128165, RefSeq RNA:NM_001134693, UniProtKB:P0C6T2 No chr2 27293340 27294567 27070472 27071699 +PA164724280 58505 HGNC:24448 ENSG00000198856 oligosaccharyltransferase complex non-catalytic subunit OSTC DC2 protein, oligosaccharyltransferase complex subunit (non-catalytic) DC2 Yes No Ensembl:ENSG00000198856, GeneCard:OSTC, HGNC:HGNC:24448, ModBase:Q9NRP0, NCBI Gene:58505, RefSeq DNA:NT_016354, RefSeq Protein:NP_067050, RefSeq RNA:NM_021227, UniProtKB:Q9NRP0 No chr4 109571741 109588978 108650585 108667822 +PA164724293 202459 HGNC:30530 ENSG00000243775 oligosaccharyltransferase complex subunit pseudogene 1 OSTCP1 DC2 protein-like DC2L Yes No Ensembl:ENSG00000243775, GeneCard:OSTCP1, HGNC:HGNC:30530, NCBI Gene:202459, RefSeq DNA:NT_025741, RefSeq Protein:NP_660346, RefSeq RNA:NM_145303, RefSeq RNA:NR_028496 No chr6 159262149 159278664 158841117 158857632 +PA32839 26578 HGNC:8510 ENSG00000134996 osteoclast stimulating factor 1 OSTF1 OSF, SH3P2, bA235O14.1 Yes No Comparative Toxicogenomics Database:26578, Ensembl:ENSG00000134996, GenAtlas:OSTF1, GeneCard:OSTF1, HGNC:HGNC:8510, HumanCyc Gene:HS05937, ModBase:Q92882, NCBI Gene:26578, OMIM:610180, RefSeq DNA:NT_008470, RefSeq Protein:NP_036515, RefSeq RNA:NM_012383, UCSC Genome Browser:NM_012383, UniProtKB:Q92882 No chr9 77703398 77762114 75088480 75147201 +PA134992664 386654 HGNC:31439 ENSG00000258244 osteoclast stimulating factor 1 pseudogene 1 OSTF1P1 Yes No Ensembl:ENSG00000258244, HGNC:HGNC:31439, NCBI Gene:386654, RefSeq DNA:NG_003109, RefSeq DNA:NT_009775 No chr12 115025856 115026604 114588051 114588799 +PA134941162 28962 HGNC:21652 ENSG00000081087 osteoclastogenesis associated transmembrane protein 1 OSTM1 CLCN7 accessory beta subunit, grey-lethal, osteopetrosis associated transmembrane protein 1 GL, HSPC019 Yes No Comparative Toxicogenomics Database:28962, Ensembl:ENSG00000081087, GeneCard:OSTM1, HGNC:HGNC:21652, ModBase:Q86WC4, NCBI Gene:28962, OMIM:259700, OMIM:259720, OMIM:607649, RefSeq DNA:NG_007262, RefSeq DNA:NT_025741, RefSeq Protein:NP_054747, RefSeq RNA:NM_014028, UniProtKB:Q86WC4 No chr6 108362613 108395941 108041409 108074737 +PA134912892 344901 HGNC:29961 ENSG00000188729 osteocrin OSTN Yes No Ensembl:ENSG00000188729, GeneCard:OSTN, HGNC:HGNC:29961, NCBI Gene:344901, OMIM:610280, RefSeq DNA:NT_005612, RefSeq Protein:NP_937827, RefSeq RNA:NM_198184, UniProtKB:P61366 No chr3 190917039 190983404 191199060 191265601 +PA32840 5009 HGNC:8512 ENSG00000036473 ornithine transcarbamylase OTC ornithine carbamoyltransferase, ornithine transcarbamylase deficiency OTC1, OTCD, OTCase Yes No Comparative Toxicogenomics Database:5009, Ensembl:ENSG00000036473, GenAtlas:OTC, GeneCard:OTC, HGNC:HGNC:8512, HumanCyc Gene:HS00516, ModBase:P00480, NCBI Gene:5009, OMIM:300461, OMIM:311250, RefSeq DNA:NG_008471, RefSeq DNA:NT_079573, RefSeq Protein:NP_000522, RefSeq RNA:NM_000531, UCSC Genome Browser:NM_000531, UniProtKB:P00480 No chrX 38211736 38280703 38352483 38421450 +PA38403 146183 HGNC:16378 ENSG00000155719 otoancorin OTOA cancer/testis antigen 108 CT108, DFNB22 Yes No Comparative Toxicogenomics Database:146183, Ensembl:ENSG00000155719, GenAtlas:OTOA, GeneCard:OTOA, HGNC:HGNC:16378, HumanCyc Gene:HS14581, NCBI Gene:146183, OMIM:607038, OMIM:607039, RefSeq DNA:NG_012973, RefSeq DNA:NT_010393, RefSeq Protein:NP_001155155, RefSeq Protein:NP_653273, RefSeq Protein:NP_733764, RefSeq RNA:NM_001161683, RefSeq RNA:NM_144672, RefSeq RNA:NM_170664, UCSC Genome Browser:NM_144672, UniProtKB:A2VDI0, UniProtKB:B3KWU3, UniProtKB:Q05BM7, UniProtKB:Q7RTW8 No chr16 21689835 21772050 21663857 21771468 +PA32841 9381 HGNC:8515 ENSG00000115155 otoferlin OTOF fer-1-like family member 2 DFNB6, DFNB9, FER1L2 Yes No Comparative Toxicogenomics Database:9381, Ensembl:ENSG00000115155, GenAtlas:OTOF, GeneCard:OTOF, HGNC:HGNC:8515, HumanCyc Gene:HS03840, ModBase:Q9HC10, NCBI Gene:9381, OMIM:601071, OMIM:603681, RefSeq DNA:NG_009937, RefSeq DNA:NT_022184, RefSeq Protein:NP_004793, RefSeq Protein:NP_919224, RefSeq Protein:NP_919303, RefSeq Protein:NP_919304, RefSeq RNA:NM_004802, RefSeq RNA:NM_194248, RefSeq RNA:NM_194322, RefSeq RNA:NM_194323, UCSC Genome Browser:NM_004802, UniProtKB:B9A0H6, UniProtKB:Q9HC10 No chr2 26680071 26781566 26457203 26558698 +PA32842 340990 HGNC:8516 ENSG00000188162 otogelin OTOG FLJ46346, OTGN, mlemp Yes No Ensembl:ENSG00000188162, GenAtlas:OTOG, GeneCard:OTOG, HGNC:HGNC:8516, ModBase:Q6ZRI0, NCBI Gene:340990, OMIM:604487, RefSeq DNA:NT_009237, RefSeq Protein:XP_001717583, RefSeq Protein:XP_002343092, RefSeq Protein:XP_002344605, RefSeq Protein:XP_002347263, RefSeq Protein:XP_291816, RefSeq Protein:XP_946095, RefSeq RNA:XM_001717531, RefSeq RNA:XM_002343051, RefSeq RNA:XM_002344564, RefSeq RNA:XM_002347222, RefSeq RNA:XM_291816, RefSeq RNA:XM_941002 No chr11 17568920 17667491 17547373 17645944 +PA162377849 283310 HGNC:26901 ENSG00000165899 otogelin like OTOGL otogelin-like C12orf64, FLJ90579 Yes No Ensembl:ENSG00000165899, GeneCard:C12orf64, HGNC:HGNC:26901, HumanCyc Gene:HS15381, NCBI Gene:283310, RefSeq DNA:NT_029419, RefSeq Protein:NP_775862, RefSeq Protein:XP_002343244, RefSeq Protein:XP_002344734, RefSeq Protein:XP_002347411, RefSeq RNA:NM_173591, RefSeq RNA:XM_002343203, RefSeq RNA:XM_002344693, RefSeq RNA:XM_002347370 No chr12 80583151 80772870 80130377 80379090 +PA166049016 131149 HGNC:34071 ENSG00000182447 otolin 1 OTOL1 C1q and TNF related 16, C1q and tumor necrosis factor related protein 15 C1QTNF15, C1QTNF16 Yes No Ensembl:ENSG00000182447, HGNC:HGNC:34071, NCBI Gene:131149 No chr3 161147389 161221740 161496808 161503942 +PA134883507 133060 HGNC:19656 ENSG00000163982 otopetrin 1 OTOP1 Yes No Ensembl:ENSG00000163982, GeneCard:OTOP1, HGNC:HGNC:19656, ModBase:Q7RTM1, NCBI Gene:133060, OMIM:607806, RefSeq DNA:NT_006051, RefSeq Protein:NP_819056, RefSeq RNA:NM_177998, UniProtKB:Q7RTM1 No chr4 4190530 4228621 4188803 4226894 +PA134930692 92736 HGNC:19657 ENSG00000183034 otopetrin 2 OTOP2 Yes No Comparative Toxicogenomics Database:92736, Ensembl:ENSG00000183034, GeneCard:OTOP2, HGNC:HGNC:19657, NCBI Gene:92736, OMIM:607827, RefSeq DNA:NT_010783, RefSeq Protein:NP_835454, RefSeq RNA:NM_178160, UniProtKB:Q7RTS6 No chr17 72920370 72930006 74922963 74933913 +PA134888566 347741 HGNC:19658 ENSG00000182938 otopetrin 3 OTOP3 Yes No Ensembl:ENSG00000182938, GeneCard:OTOP3, HGNC:HGNC:19658, ModBase:Q7RTS5, NCBI Gene:347741, OMIM:607828, RefSeq DNA:NT_010783, RefSeq Protein:NP_839947, RefSeq RNA:NM_178233, UniProtKB:Q7RTS5 No chr17 72931897 72946087 74935802 74949993 +PA32843 56914 HGNC:8517 ENSG00000125879 otoraplin OTOR fibrocyte-derived protein FDP, MIAL, MIAL1 Yes No Ensembl:ENSG00000125879, GenAtlas:OTOR, GeneCard:OTOR, HGNC:HGNC:8517, HumanCyc Gene:HS04965, ModBase:Q9NRC9, NCBI Gene:56914, OMIM:606067, RefSeq DNA:NT_011387, RefSeq Protein:NP_064542, RefSeq RNA:NM_020157, UCSC Genome Browser:NM_020157, UniProtKB:Q9NRC9 No chr20 16728998 16732809 16748353 16752164 +PA134906408 150677 HGNC:22644 ENSG00000178602 otospiralin OTOS OTOSP Yes Yes Ensembl:ENSG00000178602, GeneCard:OTOS, HGNC:HGNC:22644, HumanCyc Gene:HS17088, ModBase:Q8NHW6, NCBI Gene:150677, OMIM:607877, RefSeq DNA:NT_005416, RefSeq Protein:NP_683764, RefSeq RNA:NM_148961, UniProtKB:Q8NHW6 No chr2 241078446 241080073 240138942 240141373 +PA32844 23440 HGNC:8518 ENSG00000171540 orthopedia homeobox OTP Yes No Ensembl:ENSG00000171540, GenAtlas:OTP, GeneCard:OTP, HGNC:HGNC:8518, HumanCyc Gene:HS15998, ModBase:Q5XKR4, NCBI Gene:23440, OMIM:604529, RefSeq DNA:NT_006713, RefSeq Protein:NP_115485, RefSeq Protein:XP_002345857, RefSeq RNA:NM_032109, RefSeq RNA:XM_002345816, UCSC Genome Browser:NM_032109, UniProtKB:Q5XKR4 No chr5 76924537 76934522 77628712 77638697 +PA134988141 55611 HGNC:23077 ENSG00000167770 OTU deubiquitinase, ubiquitin aldehyde binding 1 OTUB1 OTU domain, ubiquitin aldehyde binding 1 FLJ20113, FLJ40710 Yes No Comparative Toxicogenomics Database:55611, Ensembl:ENSG00000167770, GeneCard:OTUB1, HGNC:HGNC:23077, HumanCyc Gene:HS15599, ModBase:Q96FW1, NCBI Gene:55611, OMIM:608337, RefSeq DNA:NT_167190, RefSeq Protein:NP_060140, RefSeq RNA:NM_017670, RefSeq RNA:NR_003089, UniProtKB:B3KUV5, UniProtKB:Q96FW1 No chr11 63753325 63765892 63985853 63998420 +PA134861658 78990 HGNC:20351 ENSG00000089723 OTU deubiquitinase, ubiquitin aldehyde binding 2 OTUB2 OTU domain, ubiquitin aldehyde binding 2 C14orf137, FLJ21916, MGC3102 Yes No Comparative Toxicogenomics Database:78990, Ensembl:ENSG00000089723, GeneCard:OTUB2, HGNC:HGNC:20351, HumanCyc Gene:HS12323, ModBase:Q96DC9, NCBI Gene:78990, OMIM:608338, RefSeq DNA:NT_026437, RefSeq Protein:NP_075601, RefSeq RNA:NM_023112, UniProtKB:Q96DC9 No chr14 94489511 94515276 94016083 94048933 +PA134932304 220213 HGNC:27346 ENSG00000165312 OTU deubiquitinase 1 OTUD1 OTU domain containing 1 DUBA7, OTDC1 Yes No Ensembl:ENSG00000165312, GeneCard:OTUD1, HGNC:HGNC:27346, ModBase:Q5VV17, NCBI Gene:220213, OMIM:612022, RefSeq DNA:NT_008705, RefSeq Protein:NP_001138845, RefSeq RNA:NM_001145373, UniProtKB:Q5VV17 No chr10 23728198 23731310 23439269 23442381 +PA142671215 23252 HGNC:29038 ENSG00000169914 OTU deubiquitinase 3 OTUD3 OTU domain containing 3 DUBA4, KIAA0459 Yes No Comparative Toxicogenomics Database:23252, Ensembl:ENSG00000169914, GeneCard:OTUD3, HGNC:HGNC:29038, ModBase:Q5T2D3, NCBI Gene:23252, OMIM:611758, RefSeq DNA:NT_004610, RefSeq Protein:NP_056022, RefSeq RNA:NM_015207, UniProtKB:Q5T2D3 No chr1 20208356 20239438 19881711 19912945 +PA142671216 54726 HGNC:24949 ENSG00000164164 OTU deubiquitinase 4 OTUD4 OTU domain containing 4 DUBA6, HSHIN1, KIAA1046 Yes No Comparative Toxicogenomics Database:54726, Ensembl:ENSG00000164164, GeneCard:OTUD4, HGNC:HGNC:24949, HumanCyc Gene:HS09030, ModBase:Q01804, NCBI Gene:54726, OMIM:611744, RefSeq DNA:NT_016354, RefSeq Protein:NP_001096123, RefSeq Protein:NP_059963, RefSeq Protein:NP_955356, RefSeq RNA:NM_001102653, RefSeq RNA:NM_017493, RefSeq RNA:NM_199324, UniProtKB:Q01804 No chr4 146054802 146101768 145133650 145180019 +PA142671217 55593 HGNC:25402 ENSG00000068308 OTU deubiquitinase 5 OTUD5 OTU domain containing 5, deubiquitinase A DKFZp761A052, DUBA Yes No Comparative Toxicogenomics Database:55593, Ensembl:ENSG00000068308, GeneCard:OTUD5, HGNC:HGNC:25402, ModBase:Q96G74, NCBI Gene:55593, OMIM:300713, RefSeq DNA:NT_079573, RefSeq Protein:NP_001129629, RefSeq Protein:NP_001129630, RefSeq Protein:NP_001129631, RefSeq Protein:NP_060072, RefSeq RNA:NM_001136157, RefSeq RNA:NM_001136158, RefSeq RNA:NM_001136159, RefSeq RNA:NM_017602, UniProtKB:B4DGG7, UniProtKB:Q96G74 No chrX 48779301 48815880 48922024 48958386 +PA142671218 139562 HGNC:32312 ENSG00000189401 OTU deubiquitinase 6A OTUD6A OTU domain containing 6A DUBA2, FLJ25831, HSHIN6 Yes No Ensembl:ENSG00000189401, GeneCard:OTUD6A, HGNC:HGNC:32312, ModBase:Q7L8S5, NCBI Gene:139562, OMIM:300714, RefSeq DNA:NT_011669, RefSeq Protein:NP_997203, RefSeq RNA:NM_207320, UniProtKB:Q7L8S5 No chrX 69282341 69284029 70062491 70064179 +PA142671219 51633 HGNC:24281 ENSG00000155100 OTU deubiquitinase 6B OTUD6B OTU domain containing 6B CGI-77, DUBA5 Yes No Ensembl:ENSG00000155100, GeneCard:OTUD6B, HGNC:HGNC:24281, HumanCyc Gene:HS14554, ModBase:Q8N6M0, NCBI Gene:51633, OMIM:612021, RefSeq DNA:NT_008046, RefSeq Protein:NP_057107, RefSeq RNA:NM_016023, UniProtKB:Q8N6M0 No chr8 92082424 92099323 91070196 91087095 +PA134877572 161725 HGNC:20718 ENSG00000169918 OTU deubiquitinase 7A OTUD7A OTU domain containing 7A C15orf16, CEZANNE2, OTUD7 Yes No Ensembl:ENSG00000169918, GeneCard:OTUD7A, HGNC:HGNC:20718, HumanCyc Gene:HS15829, ModBase:Q8TE49, NCBI Gene:161725, OMIM:612024, RefSeq DNA:NT_010194, RefSeq Protein:NP_570971, RefSeq RNA:NM_130901, UniProtKB:Q8TE49 No chr15 31773884 32162875 31483126 31655339 +PA134873802 56957 HGNC:16683 ENSG00000264522 OTU deubiquitinase 7B OTUD7B OTU domain containing 7B CEZANNE, ZA20D1 Yes No Comparative Toxicogenomics Database:56957, Ensembl:ENSG00000264522, GeneCard:OTUD7B, HGNC:HGNC:16683, HumanCyc Gene:HS15024, ModBase:Q6GQQ9, NCBI Gene:56957, OMIM:611748, RefSeq DNA:NT_004487, RefSeq Protein:NP_064590, RefSeq RNA:NM_020205, UniProtKB:Q6GQQ9 No chr1 149912229 149982686 149940330 150010766 +PA142671789 90268 HGNC:25118 ENSG00000154124 OTU deubiquitinase with linear linkage specificity OTULIN """family with sequence similarity 105, member B"", ""gumby"", ""ubiquitin thioesterase otulin""" FAM105B, FLJ34884 Yes No Comparative Toxicogenomics Database:90268, Ensembl:ENSG00000154124, GeneCard:FAM105B, HGNC:HGNC:25118, HumanCyc Gene:HS14507, ModBase:Q96BN8, NCBI Gene:90268, RefSeq DNA:NT_006576, RefSeq Protein:NP_612357, RefSeq RNA:NM_138348, UniProtKB:Q96BN8 No chr5 14664783 14699842 14660794 14716552 +PA142671788 54491 HGNC:25629 ENSG00000145569 OTU deubiquitinase with linear linkage specificity like OTULINL family with sequence similarity 105, member A FAM105A, FLJ11127, NET20 Yes No Comparative Toxicogenomics Database:54491, Ensembl:ENSG00000145569, GeneCard:FAM105A, HGNC:HGNC:25629, HumanCyc Gene:HS14099, ModBase:Q9NUU6, NCBI Gene:54491, RefSeq DNA:NT_006576, RefSeq Protein:NP_061891, RefSeq RNA:NM_019018, UniProtKB:Q9NUU6 No chr5 14581891 14616289 14581782 14616180 +PA32848 5013 HGNC:8521 ENSG00000115507 orthodenticle homeobox 1 OTX1 Homeobox protein OTX1 Yes No Comparative Toxicogenomics Database:5013, Ensembl:ENSG00000115507, GenAtlas:OTX1, GeneCard:OTX1, HGNC:HGNC:8521, HumanCyc Gene:HS03899, ModBase:P32242, NCBI Gene:5013, OMIM:600036, RefSeq DNA:NT_022184, RefSeq Protein:NP_001186699, RefSeq Protein:NP_055377, RefSeq RNA:NM_001199770, RefSeq RNA:NM_014562, UCSC Genome Browser:NM_014562, UniProtKB:B3KTJ4, UniProtKB:P32242 No chr2 63277192 63284966 63050057 63057831 +PA32849 5015 HGNC:8522 ENSG00000165588 orthodenticle homeobox 2 OTX2 Yes No Comparative Toxicogenomics Database:5015, Ensembl:ENSG00000165588, GenAtlas:OTX2, GeneCard:OTX2, HGNC:HGNC:8522, HumanCyc Gene:HS09253, ModBase:P32243, NCBI Gene:5015, OMIM:600037, OMIM:610125, RefSeq DNA:NG_008204, RefSeq DNA:NT_026437, RefSeq Protein:NP_068374, RefSeq Protein:NP_758840, RefSeq RNA:NM_021728, RefSeq RNA:NM_172337, UCSC Genome Browser:NM_021728, UniProtKB:P32243 No chr14 57267425 57277194 56800707 56810476 +PA165432281 124641 HGNC:24203 ENSG00000262664 OVCA2 serine hydrolase domain containing OVCA2 """OVCA2, serine hydrolase domain containing"", ""candidate tumor suppressor in ovarian cancer 2"", ""ovarian tumor suppressor candidate 2""" Yes No Ensembl:ENSG00000262664, GeneCard:OVCA2, HGNC:HGNC:24203, NCBI Gene:124641, OMIM:607896, RefSeq DNA:NT_010718, RefSeq Protein:NP_543012, RefSeq RNA:NM_080822, UniProtKB:Q8WZ82 No chr17 1945277 1946725 2041983 2043431 +PA134910581 341350 HGNC:23080 ENSG00000187950 ovochymase 1 OVCH1 OVCH Yes No Ensembl:ENSG00000187950, GeneCard:OVCH1, HGNC:HGNC:23080, ModBase:Q7RTY7, NCBI Gene:341350, RefSeq DNA:NT_009714, RefSeq Protein:NP_899234, RefSeq RNA:NM_183378, UniProtKB:Q7RTY7 No chr12 29580489 29650619 29426871 29499693 +PA142671212 341277 HGNC:29970 ENSG00000183378 ovochymase 2 OVCH2 ovochymase 2 (gene/pseudogene) OVTN Yes No Ensembl:ENSG00000183378, GeneCard:OVCH2, HGNC:HGNC:29970, ModBase:Q7RTZ1, NCBI Gene:341277, RefSeq DNA:NT_009237, RefSeq Protein:NP_937828, RefSeq RNA:NM_198185 No chr11 7710669 7728001 7678623 7706894 +PA32852 5016 HGNC:8524 ENSG00000085465 oviductal glycoprotein 1 OVGP1 """oviductal glycoprotein 1, 120kDa"", ""oviductin""" CHIT5, MUC9, OGP Yes No Comparative Toxicogenomics Database:5016, Ensembl:ENSG00000085465, GenAtlas:OVGP1, GeneCard:OVGP1, HGNC:HGNC:8524, HumanCyc Gene:HS01496, ModBase:Q12889, NCBI Gene:5016, OMIM:603578, RefSeq DNA:NT_032977, RefSeq Protein:NP_002548, RefSeq RNA:NM_002557, UCSC Genome Browser:NM_002557, UniProtKB:Q12889, UniProtKB:Q86YN0 No chr1 111956937 111970399 111414315 111427777 +PA32853 5017 HGNC:8525 ENSG00000172818 ovo like transcriptional repressor 1 OVOL1 ovo-like 1(Drosophila), ovo-like zinc finger 1 HOVO1 Yes No Ensembl:ENSG00000172818, GenAtlas:OVOL1, GeneCard:OVOL1, HGNC:HGNC:8525, HumanCyc Gene:HS10573, ModBase:O14753, NCBI Gene:5017, OMIM:602313, RefSeq DNA:NT_167190, RefSeq Protein:NP_004552, RefSeq RNA:NM_004561, UCSC Genome Browser:NM_004561, UniProtKB:O14753 No chr11 65554505 65564690 65787034 65797219 +PA38039 58495 HGNC:15804 ENSG00000125850 ovo like zinc finger 2 OVOL2 ovo-like 2 (Drosophila), ovo-like zinc finger 2 CHED, CHED1, HOVO2, ZNF339, bA504H3.3 Yes No Ensembl:ENSG00000125850, GenAtlas:OVOL2, GeneCard:OVOL2, HGNC:HGNC:15804, HumanCyc Gene:HS04956, ModBase:Q9BRP0, NCBI Gene:58495, RefSeq DNA:NT_011387, RefSeq Protein:NP_067043, RefSeq RNA:NM_021220, UCSC Genome Browser:NM_021220, UniProtKB:Q9BRP0 No chr20 18004796 18039834 18024152 18059188 +PA166048946 728361 HGNC:14186 ENSG00000105261 ovo like zinc finger 3 OVOL3 ovo-like 3 (Drosophila), ovo-like zinc finger 3 HOVO3 Yes No Ensembl:ENSG00000105261, HGNC:HGNC:14186, NCBI Gene:728361 No chr19 36602105 36604613 36111180 36113711 +PA32854 5018 HGNC:8526 ENSG00000155463 OXA1L mitochondrial inner membrane protein OXA1L """OXA1L, mitochondrial inner membrane protein"", ""oxidase (cytochrome c) assembly 1-like""" MGC133129, OXA1, OXA1L1 Yes No Comparative Toxicogenomics Database:5018, Ensembl:ENSG00000155463, GenAtlas:OXA1L, GeneCard:OXA1L, HGNC:HGNC:8526, HumanCyc Gene:HS08051, NCBI Gene:5018, OMIM:601066, RefSeq DNA:NT_026437, RefSeq Protein:NP_005006, RefSeq RNA:NM_005015, UCSC Genome Browser:NM_005015, UniProtKB:Q15070, UniProtKB:Q2M1J6 No chr14 23235731 23240998 22766522 22771789 +PA32855 5019 HGNC:8527 ENSG00000083720 3-oxoacid CoA-transferase 1 OXCT1 3-oxoacid CoA transferase 1, Succinyl-CoA:3-ketoacid-CoA transferase OXCT, SCOT Yes No Comparative Toxicogenomics Database:5019, Ensembl:ENSG00000083720, GenAtlas:OXCT1, GeneCard:OXCT1, HGNC:HGNC:8527, HumanCyc Gene:HS01447, ModBase:P55809, NCBI Gene:5019, OMIM:245050, OMIM:601424, RefSeq DNA:NG_011823, RefSeq DNA:NT_006576, RefSeq Protein:NP_000427, RefSeq RNA:NM_000436, UCSC Genome Browser:NM_000436, UniProtKB:P55809 No chr5 41730167 41870791 41730065 41870689 +PA38360 64064 HGNC:18606 ENSG00000198754 3-oxoacid CoA-transferase 2 OXCT2 3-oxoacid CoA transferase 2 FKSG25, FLJ00030, SCOT-T Yes No Ensembl:ENSG00000198754, GenAtlas:OXCT2, GeneCard:OXCT2, HGNC:HGNC:18606, HumanCyc Gene:HS11579, ModBase:Q9BYC2, NCBI Gene:64064, OMIM:610289, RefSeq DNA:NT_032977, RefSeq Protein:NP_071403, RefSeq RNA:NM_022120, UCSC Genome Browser:NM_022120, UniProtKB:Q9BYC2 No chr1 40235197 40237020 39769525 39771348 +PA134863259 192217 HGNC:21627 ENSG00000237624 3-oxoacid CoA transferase 2 pseudogene 1 OXCT2P1 Yes No Ensembl:ENSG00000237624, HGNC:HGNC:21627, NCBI Gene:192217, RefSeq DNA:NG_001331, RefSeq DNA:NT_032977 No chr1 39980535 39982339 39514866 39516669 +PA134983779 165140 HGNC:24884 ENSG00000162881 oxoeicosanoid receptor 1 OXER1 5-oxo-ETE acid G-protein-coupled receptor 1, OXE receptor, oxoeicosanoid (OXE) receptor 1 GPCR, GPR170, TG1019 Yes No Ensembl:ENSG00000162881, GeneCard:OXER1, HGNC:HGNC:24884, HumanCyc Gene:HS08748, IUPHAR Receptor:271, ModBase:Q8TDS5, NCBI Gene:165140, RefSeq DNA:NT_022184, RefSeq Protein:NP_683765, RefSeq RNA:NM_148962, UniProtKB:Q8TDS5 No chr2 42989639 42991401 42762499 42764261 +PA28924 27199 HGNC:4531 ENSG00000165621 oxoglutarate receptor 1 OXGR1 2-oxoglutarate receptor 1, alpha-ketoglutarate receptor 1, oxoglutarate (alpha-ketoglutarate) receptor 1 GPR80, GPR99, P2RY15, P2Y15, aKGR Yes No Ensembl:ENSG00000165621, GenAtlas:OXGR1, GeneCard:OXGR1, HGNC:HGNC:4531, HumanCyc Gene:HS09256, IUPHAR Receptor:162, ModBase:Q96P68, NCBI Gene:27199, OMIM:606922, RefSeq DNA:NT_009952, RefSeq Protein:NP_543008, RefSeq RNA:NM_080818, UCSC Genome Browser:NM_080818, UniProtKB:B2R986, UniProtKB:Q96P68 No chr13 97637973 97646984 96985719 96995842 +PA162378543 339229 HGNC:27901 ENSG00000204237 oxidoreductase like domain containing 1 OXLD1 oxidoreductase-like domain containing 1 C17orf90, MGC104712 Yes No Ensembl:ENSG00000204237, GeneCard:C17orf90, HGNC:HGNC:27901, NCBI Gene:339229, RefSeq DNA:NT_010783, RefSeq Protein:NP_001034931, RefSeq RNA:NM_001039842, UniProtKB:Q5BKU9 No chr17 79632066 79633618 81665036 81666637 +PA142671213 92106 HGNC:25128 ENSG00000154814 oxidoreductase NAD binding domain containing 1 OXNAD1 oxidoreductase NAD-binding domain containing 1 MGC15763 Yes Yes Comparative Toxicogenomics Database:92106, Ensembl:ENSG00000154814, GeneCard:OXNAD1, HGNC:HGNC:25128, HumanCyc Gene:HS08011, ModBase:Q96HP4, NCBI Gene:92106, RefSeq DNA:NT_022517, RefSeq Protein:NP_612390, RefSeq RNA:NM_138381, UniProtKB:Q96HP4 No chr3 16306667 16379000 16265160 16386979 +PA32856 55074 HGNC:15822 ENSG00000164830 oxidation resistance 1 OXR1 TBC/LysM-associated domain containing 3 TLDC3 Yes No Comparative Toxicogenomics Database:55074, Ensembl:ENSG00000164830, GenAtlas:OXR1, GeneCard:OXR1, HGNC:HGNC:15822, HumanCyc Gene:HS09146, ModBase:Q8N573, NCBI Gene:55074, OMIM:605609, RefSeq DNA:NT_008046, RefSeq Protein:NP_001185461, RefSeq Protein:NP_001185462, RefSeq Protein:NP_001185463, RefSeq Protein:NP_001185464, RefSeq Protein:NP_060472, RefSeq Protein:NP_851999, RefSeq RNA:NM_001198532, RefSeq RNA:NM_001198533, RefSeq RNA:NM_001198534, RefSeq RNA:NM_001198535, RefSeq RNA:NM_018002, RefSeq RNA:NM_181354, UCSC Genome Browser:NM_018002, UCSC Genome Browser:NM_181354, UniProtKB:Q8N573 No chr8 107282406 107764922 106270178 106752694 +PA142671214 54995 HGNC:26063 ENSG00000151093 3-oxoacyl-ACP synthase, mitochondrial OXSM beta-ketoacyl synthase CEM1, FASN2D, FLJ20604, KS Yes No Comparative Toxicogenomics Database:54995, Ensembl:ENSG00000151093, GeneCard:OXSM, HGNC:HGNC:26063, HumanCyc Gene:HS07707, ModBase:Q9NWU1, NCBI Gene:54995, OMIM:610324, RefSeq DNA:NT_022517, RefSeq Protein:NP_001138863, RefSeq Protein:NP_060367, RefSeq RNA:NM_001145391, RefSeq RNA:NM_017897, RefSeq RNA:NR_026937, UniProtKB:Q9NWU1 No chr3 25831563 25836025 25783661 25794534 +PA134973207 9943 HGNC:8508 ENSG00000172939 oxidative stress responsive kinase 1 OXSR1 oxidative stress responsive 1, oxidative-stress responsive 1 KIAA1101, OSR1 Yes No Ensembl:ENSG00000172939, GeneCard:OXSR1, HGNC:HGNC:8508, HumanCyc Gene:HS10595, ModBase:O95747, NCBI Gene:9943, OMIM:604046, RefSeq DNA:NT_022517, RefSeq Protein:NP_005100, RefSeq RNA:NM_005109, UniProtKB:O95747 No chr3 38207022 38296979 38165051 38255488 +PA32857 5020 HGNC:8528 ENSG00000101405 oxytocin/neurophysin I prepropeptide OXT neurophysin I, oxytocin OT, OT-NPI, OXT-NPI Yes Yes Comparative Toxicogenomics Database:5020, Ensembl:ENSG00000101405, GenAtlas:OXT, GeneCard:OXT, HGNC:HGNC:8528, HumanCyc Gene:HS02260, ModBase:P01178, NCBI Gene:5020, OMIM:167050, RefSeq DNA:NT_011387, RefSeq Protein:NP_000906, RefSeq RNA:NM_000915, UCSC Genome Browser:NM_000915, UniProtKB:P01178 No chr20 3052266 3053163 3068871 3072517 +PA32858 5021 HGNC:8529 ENSG00000180914 oxytocin receptor OXTR OTR Yes No Comparative Toxicogenomics Database:5021, Ensembl:ENSG00000180914, GenAtlas:OXTR, GeneCard:OXTR, HGNC:HGNC:8529, HumanCyc Gene:HS11549, IUPHAR Receptor:369, ModBase:P30559, NCBI Gene:5021, OMIM:167055, RefSeq DNA:NT_022517, RefSeq Protein:NP_000907, RefSeq RNA:NM_000916, UCSC Genome Browser:NM_000916, UniProtKB:B2R9L7, UniProtKB:P30559 No chr3 8792094 8811300 8748579 8769614 +PA32861 5023 HGNC:8533 ENSG00000108405 purinergic receptor P2X 1 P2RX1 purinergic receptor P2X, ligand-gated ion channel, 1 P2X1 Yes No Comparative Toxicogenomics Database:5023, Ensembl:ENSG00000108405, GenAtlas:P2RX1, GeneCard:P2RX1, HGNC:HGNC:8533, HumanCyc Gene:HS03099, IUPHAR Receptor:478, NCBI Gene:5023, OMIM:600845, RefSeq DNA:NG_012109, RefSeq DNA:NT_010718, RefSeq Protein:NP_002549, RefSeq RNA:NM_002558, UCSC Genome Browser:NM_002558, UniProtKB:P51575 No chr17 3799885 3819960 3896591 3916666 +PA32862 22953 HGNC:15459 ENSG00000187848 purinergic receptor P2X 2 P2RX2 purinergic receptor P2X, ligand-gated ion channel, 2 DFNA41, P2X2 Yes No Comparative Toxicogenomics Database:22953, Ensembl:ENSG00000187848, GenAtlas:P2RX2, GeneCard:P2RX2, HGNC:HGNC:15459, HumanCyc Gene:HS11119, IUPHAR Receptor:479, ModBase:Q9NR38, NCBI Gene:22953, OMIM:600844, RefSeq DNA:NT_024477, RefSeq Protein:NP_036358, RefSeq Protein:NP_057402, RefSeq Protein:NP_733782, RefSeq Protein:NP_733783, RefSeq Protein:NP_777361, RefSeq Protein:NP_777362, RefSeq RNA:NM_012226, RefSeq RNA:NM_016318, RefSeq RNA:NM_170682, RefSeq RNA:NM_170683, RefSeq RNA:NM_174872, RefSeq RNA:NM_174873, UCSC Genome Browser:NM_012226, UniProtKB:Q9UBL9 No chr12 133195393 133198972 132618780 132623678 +PA32863 5024 HGNC:8534 ENSG00000109991 purinergic receptor P2X 3 P2RX3 purinergic receptor P2X, ligand-gated ion channel, 3 P2X3 Yes No Comparative Toxicogenomics Database:5024, Ensembl:ENSG00000109991, GenAtlas:P2RX3, GeneCard:P2RX3, HGNC:HGNC:8534, HumanCyc Gene:HS03274, IUPHAR Receptor:480, NCBI Gene:5024, OMIM:600843, RefSeq DNA:NT_167190, RefSeq Protein:NP_002550, RefSeq RNA:NM_002559, UCSC Genome Browser:NM_002559, UniProtKB:P56373 No chr11 57105841 57137549 57335943 57372399 +PA32864 5025 HGNC:8535 ENSG00000135124 purinergic receptor P2X 4 P2RX4 purinergic receptor P2X, ligand-gated ion channel, 4 P2X4 Yes No Comparative Toxicogenomics Database:5025, Ensembl:ENSG00000135124, GenAtlas:P2RX4, GeneCard:P2RX4, HGNC:HGNC:8535, HumanCyc Gene:HS05960, IUPHAR Receptor:481, ModBase:Q99571, NCBI Gene:5025, OMIM:600846, RefSeq DNA:NT_009775, RefSeq Protein:NP_002551, RefSeq RNA:NM_002560, UCSC Genome Browser:NM_002560, UniProtKB:Q99571 No chr12 121647664 121671909 121209861 121234106 +PA32865 5026 HGNC:8536 ENSG00000083454 purinergic receptor P2X 5 P2RX5 purinergic receptor P2X, ligand-gated ion channel, 5 LRH-1, P2X5 Yes No Comparative Toxicogenomics Database:5026, Ensembl:ENSG00000083454, GenAtlas:P2RX5, GeneCard:P2RX5, HGNC:HGNC:8536, HumanCyc Gene:HS01441, IUPHAR Receptor:482, NCBI Gene:5026, OMIM:602836, RefSeq DNA:NT_010718, RefSeq Protein:NP_001191448, RefSeq Protein:NP_001191449, RefSeq Protein:NP_002552, RefSeq Protein:NP_778255, RefSeq Protein:NP_778256, RefSeq RNA:NM_001204519, RefSeq RNA:NM_001204520, RefSeq RNA:NM_002561, RefSeq RNA:NM_175080, RefSeq RNA:NM_175081, UCSC Genome Browser:NM_002561, UniProtKB:Q93086 No chr17 3575156 3599698 3673227 3696404 +PA162398523 9127 HGNC:8538 ENSG00000099957 purinergic receptor P2X 6 P2RX6 purinergic receptor P2X, ligand-gated ion channel, 6 MGC129625, P2RXL1, P2X6, P2XM Yes No Ensembl:ENSG00000099957, GeneCard:P2RX6, HGNC:HGNC:8538, HumanCyc Gene:HS01938, IUPHAR Receptor:483, NCBI Gene:9127, OMIM:608077, RefSeq DNA:NT_011520, RefSeq Protein:NP_001153026, RefSeq Protein:NP_005437, RefSeq RNA:NM_001159554, RefSeq RNA:NM_005446, UniProtKB:C9JQN0, UniProtKB:O15547, UniProtKB:Q32MB6 No chr22 21369442 21382302 21009699 21028013 +PA32866 5027 HGNC:8537 ENSG00000089041 purinergic receptor P2X 7 P2RX7 purinergic receptor P2X, ligand-gated ion channel, 7 MGC20089, P2X7 Yes Yes Comparative Toxicogenomics Database:5027, Ensembl:ENSG00000089041, GenAtlas:P2RX7, GeneCard:P2RX7, HGNC:HGNC:8537, HumanCyc Gene:HS01626, IUPHAR Receptor:484, NCBI Gene:5027, OMIM:151400, OMIM:602566, RefSeq DNA:NG_011471, RefSeq DNA:NT_009775, RefSeq Protein:NP_002553, RefSeq RNA:NM_002562, RefSeq RNA:NR_033948, RefSeq RNA:NR_033949, RefSeq RNA:NR_033950, RefSeq RNA:NR_033951, RefSeq RNA:NR_033952, RefSeq RNA:NR_033953, RefSeq RNA:NR_033954, RefSeq RNA:NR_033955, RefSeq RNA:NR_033956, UCSC Genome Browser:NM_002562, UniProtKB:Q7Z771, UniProtKB:Q99572 No chr12 121570622 121624439 121132819 121189478 +PA32868 5028 HGNC:8539 ENSG00000169860 purinergic receptor P2Y1 P2RY1 """purinergic receptor P2Y, G-protein coupled, 1"", ""suppressing androgen receptor in renal cell carcinoma""" P2Y1, SARCC Yes Yes Comparative Toxicogenomics Database:5028, Ensembl:ENSG00000169860, GenAtlas:P2RY1, GeneCard:P2RY1, HGNC:HGNC:8539, HumanCyc Gene:HS10020, IUPHAR Receptor:323, ModBase:P47900, NCBI Gene:5028, OMIM:601167, RefSeq DNA:NT_005612, RefSeq Protein:NP_002554, RefSeq RNA:NM_002563, UCSC Genome Browser:NM_002563, UniProtKB:P47900 No chr3 152552736 152555845 152834693 152841439 +PA134873055 27334 HGNC:19906 ENSG00000078589 P2Y receptor family member 10 P2RY10 """lysophosphatidylserine receptor 2"", ""purinergic receptor P2Y, G-protein coupled, 10""" LPS2, P2Y10 Yes No Comparative Toxicogenomics Database:27334, Ensembl:ENSG00000078589, GeneCard:P2RY10, HGNC:HGNC:19906, HumanCyc Gene:HS01291, IUPHAR Receptor:165, ModBase:O00398, NCBI Gene:27334, OMIM:300529, RefSeq DNA:NG_013276, RefSeq DNA:NT_011651, RefSeq Protein:NP_055314, RefSeq Protein:NP_938147, RefSeq RNA:NM_014499, RefSeq RNA:NM_198333, UniProtKB:O00398 No chrX 78200829 78219224 78945332 78963727 +PA32869 5032 HGNC:8540 ENSG00000244165 purinergic receptor P2Y11 P2RY11 purinergic receptor P2Y, G-protein coupled, 11 P2Y11 Yes Yes Ensembl:ENSG00000244165, GenAtlas:P2RY11, GeneCard:P2RY11, HGNC:HGNC:8540, IUPHAR Receptor:327, ModBase:Q96G91, NCBI Gene:5032, OMIM:602697, RefSeq DNA:NT_011295, RefSeq Protein:NP_002557, RefSeq RNA:NM_002566, UCSC Genome Browser:NM_002566, UniProtKB:Q96G91 No chr19 10222197 10226065 10111521 10115389 +PA134971947 64805 HGNC:18124 ENSG00000169313 purinergic receptor P2Y12 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 HORK3, P2Y12, SP1999 Yes Yes Comparative Toxicogenomics Database:64805, Ensembl:ENSG00000169313, GeneCard:P2RY12, HGNC:HGNC:18124, HumanCyc Gene:HS09927, IUPHAR Receptor:328, ModBase:Q9H244, NCBI Gene:64805, OMIM:600515, OMIM:609821, RefSeq DNA:NG_016019, RefSeq DNA:NT_005612, RefSeq Protein:NP_073625, RefSeq Protein:NP_795345, RefSeq RNA:NM_022788, RefSeq RNA:NM_176876, UniProtKB:Q9H244 No chr3 151054631 151102600 151336843 151384812 +PA28930 53829 HGNC:4537 ENSG00000181631 purinergic receptor P2Y13 P2RY13 purinergic receptor P2Y, G-protein coupled, 13 FKSG77, GPR86, GPR94, P2Y13 Yes No Ensembl:ENSG00000181631, GenAtlas:P2RY13, GeneCard:P2RY13, HGNC:HGNC:4537, HumanCyc Gene:HS11638, IUPHAR Receptor:329, NCBI Gene:53829, OMIM:606380, RefSeq DNA:NT_005612, RefSeq Protein:NP_795713, RefSeq RNA:NM_176894, UCSC Genome Browser:NM_023914 No chr3 151044096 151047337 151326308 151329549 +PA28853 9934 HGNC:16442 ENSG00000174944 purinergic receptor P2Y14 P2RY14 purinergic receptor P2Y, G-protein coupled, 14 GPR105, KIAA0001 Yes No Comparative Toxicogenomics Database:9934, Ensembl:ENSG00000174944, GenAtlas:P2RY14, GeneCard:P2RY14, HGNC:HGNC:16442, HumanCyc Gene:HS10852, IUPHAR Receptor:330, ModBase:Q15391, NCBI Gene:9934, OMIM:610116, RefSeq DNA:NT_005612, RefSeq Protein:NP_001074924, RefSeq Protein:NP_055694, RefSeq RNA:NM_001081455, RefSeq RNA:NM_014879, UCSC Genome Browser:NM_014879, UniProtKB:A5JUU3, UniProtKB:Q15391 No chr3 150929905 150996996 151212115 151279165 +PA32870 5029 HGNC:8541 ENSG00000175591 purinergic receptor P2Y2 P2RY2 purinergic receptor P2Y, G-protein coupled, 2 P2U Yes No Comparative Toxicogenomics Database:5029, Ensembl:ENSG00000175591, GenAtlas:P2RY2, GeneCard:P2RY2, HGNC:HGNC:8541, HumanCyc Gene:HS10956, IUPHAR Receptor:324, ModBase:P41231, NCBI Gene:5029, OMIM:600041, RefSeq DNA:NT_167190, RefSeq Protein:NP_002555, RefSeq Protein:NP_788085, RefSeq Protein:NP_788086, RefSeq RNA:NM_002564, RefSeq RNA:NM_176071, RefSeq RNA:NM_176072, UCSC Genome Browser:NM_002564, UniProtKB:P41231 No chr11 72928735 72953472 73200416 73246743 +PA32871 5030 HGNC:8542 ENSG00000186912 pyrimidinergic receptor P2Y4 P2RY4 pyrimidinergic receptor P2Y, G-protein coupled, 4 NRU, P2P, P2Y4, UNR Yes No Comparative Toxicogenomics Database:5030, Ensembl:ENSG00000186912, GenAtlas:P2RY4, GeneCard:P2RY4, HGNC:HGNC:8542, IUPHAR Receptor:325, ModBase:P51582, NCBI Gene:5030, OMIM:300038, RefSeq DNA:NG_013250, RefSeq DNA:NT_011669, RefSeq Protein:NP_002556, RefSeq RNA:NM_002565, UCSC Genome Browser:NM_002565, UniProtKB:P51582 No chrX 69478016 69479654 70258166 70259804 +PA32872 5031 HGNC:8543 ENSG00000171631 pyrimidinergic receptor P2Y6 P2RY6 pyrimidinergic receptor P2Y, G-protein coupled, 6 P2Y6 Yes No Comparative Toxicogenomics Database:5031, Ensembl:ENSG00000171631, GenAtlas:P2RY6, GeneCard:P2RY6, HGNC:HGNC:8543, HumanCyc Gene:HS10358, IUPHAR Receptor:326, ModBase:Q15077, NCBI Gene:5031, OMIM:602451, RefSeq DNA:NT_167190, RefSeq Protein:NP_004145, RefSeq Protein:NP_789766, RefSeq Protein:NP_789767, RefSeq Protein:NP_789768, RefSeq RNA:NM_004154, RefSeq RNA:NM_176796, RefSeq RNA:NM_176797, RefSeq RNA:NM_176798, UCSC Genome Browser:NM_004154, UniProtKB:Q15077 No chr11 72975550 73009670 73264503 73298625 +PA32873 286530 HGNC:15524 ENSG00000182162 P2Y receptor family member 8 P2RY8 purinergic receptor P2Y, G-protein coupled, 8 P2Y8 Yes No Ensembl:ENSG00000182162, GenAtlas:P2RY8, GeneCard:P2RY8, HGNC:HGNC:15524, IUPHAR Receptor:164, ModBase:Q86VZ1, NCBI Gene:286530, OMIM:300525, RefSeq DNA:NG_013252, RefSeq DNA:NT_167196, RefSeq DNA:NT_167204, RefSeq Protein:NP_835230, RefSeq RNA:NM_178129, UCSC Genome Browser:NM_178129, UniProtKB:Q86VZ1 No chrX 1581465 1656037 1462572 1537488 +PA134930599 64175 HGNC:19316 ENSG00000117385 prolyl 3-hydroxylase 1 P3H1 growth suppressor 1, leucine proline-enriched proteoglycan (leprecan) 1, procollagen-proline 3-dioxygenase, prolyl 3-hydroxylase 1 GROS1, LEPRE1, LEPRECAN, MGC117314, P3H1 Yes No Comparative Toxicogenomics Database:64175, Ensembl:ENSG00000117385, GeneCard:LEPRE1, HGNC:HGNC:19316, HumanCyc Gene:HS04122, ModBase:Q9HC87, NCBI Gene:64175, OMIM:610339, OMIM:610915, RefSeq DNA:NG_008123, RefSeq DNA:NT_032977, RefSeq Protein:NP_001139761, RefSeq Protein:NP_071751, RefSeq RNA:NM_001146289, RefSeq RNA:NM_022356, UniProtKB:Q32P28 No chr1 43212006 43232755 42746335 42767084 +PA134922807 55214 HGNC:19317 ENSG00000090530 prolyl 3-hydroxylase 2 P3H2 leprecan-like 1, procollagen-proline 3-dioxygenase 2, prolyl 3-hydroxylase 2 FLJ10718, LEPREL1, MLAT4, P3H2 Yes No Ensembl:ENSG00000090530, GeneCard:LEPREL1, HGNC:HGNC:19317, HumanCyc Gene:HS01693, ModBase:Q8IVL5, NCBI Gene:55214, OMIM:610341, RefSeq DNA:NT_005612, RefSeq Protein:NP_001127890, RefSeq Protein:NP_060662, RefSeq RNA:NM_001134418, RefSeq RNA:NM_018192, UniProtKB:Q8IVL5 No chr3 189674517 189840226 189956728 190122437 +PA134890414 10536 HGNC:19318 ENSG00000110811 prolyl 3-hydroxylase 3 P3H3 leprecan-like 2, procollagen-proline 3-dioxygenase, prolyl 3-hydroxylase 3 GRCB, HSU47926, LEPREL2, P3H3 Yes No Comparative Toxicogenomics Database:10536, Ensembl:ENSG00000110811, GeneCard:LEPREL2, HGNC:HGNC:19318, HumanCyc Gene:HS03341, ModBase:Q8IVL6, NCBI Gene:10536, OMIM:610342, RefSeq DNA:NT_009759, RefSeq Protein:NP_055077, RefSeq RNA:NM_014262, UniProtKB:Q8IVL6 No chr12 6937572 6949018 6828373 6839854 +PA166048948 10609 HGNC:16946 ENSG00000141696 prolyl 3-hydroxylase family member 4 (inactive) P3H4 leprecan-like 4, prolyl 3-hydroxylase family member 4 (non-enzymatic), synaptonemal complex 65 LEPREL4, NO55, SC65 Yes No Ensembl:ENSG00000141696, HGNC:HGNC:16946, NCBI Gene:10609 No chr17 39958204 39968881 41801952 41812617 +PA166181593 110117498 HGNC:53451 ENSG00000250719 PIK3R3 upstream open reading frame P3R3URF PIK3R3 upstream reading frame Yes No Ensembl:ENSG00000250719, HGNC:HGNC:53451, NCBI Gene:110117498 No 0 0 0 0 +PA32874 5033 HGNC:8546 ENSG00000122884 prolyl 4-hydroxylase subunit alpha 1 P4HA1 """collagen prolyl 4-hydroxylase alpha(I)"", ""prolyl 4-hydroxylase, alpha polypeptide I""" C-P4Halpha(I), P4HA Yes No Comparative Toxicogenomics Database:5033, Ensembl:ENSG00000122884, GenAtlas:P4HA1, GeneCard:P4HA1, HGNC:HGNC:8546, HumanCyc Gene:HS04613, ModBase:P13674, NCBI Gene:5033, OMIM:176710, RefSeq DNA:NT_030059, RefSeq Protein:NP_000908, RefSeq Protein:NP_001017962, RefSeq Protein:NP_001136067, RefSeq Protein:NP_001136068, RefSeq RNA:NM_000917, RefSeq RNA:NM_001017962, RefSeq RNA:NM_001142595, RefSeq RNA:NM_001142596, UCSC Genome Browser:NM_000917, UniProtKB:C9JL12, UniProtKB:P13674, UniProtKB:Q5VSQ6 No chr10 74766975 74856732 73007217 73096974 +PA32875 8974 HGNC:8547 ENSG00000072682 prolyl 4-hydroxylase subunit alpha 2 P4HA2 """4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"", ""lncRNA promotes epithelial-mesenchymal transition"", ""prolyl 4-hydroxylase, alpha polypeptide II""" C-P4Halpha(II), lncRNA-PE Yes No Comparative Toxicogenomics Database:8974, Ensembl:ENSG00000072682, GenAtlas:P4HA2, GeneCard:P4HA2, HGNC:HGNC:8547, HumanCyc Gene:HS01076, ModBase:O15460, NCBI Gene:8974, OMIM:600608, RefSeq DNA:NT_034772, RefSeq Protein:NP_001017974, RefSeq Protein:NP_001136070, RefSeq Protein:NP_001136071, RefSeq Protein:NP_001352608, RefSeq Protein:NP_004190, RefSeq RNA:NM_001017974, RefSeq RNA:NM_001142598, RefSeq RNA:NM_001142599, RefSeq RNA:NM_001365679, RefSeq RNA:NM_004199, UCSC Genome Browser:NM_004199, UniProtKB:O15460, UniProtKB:Q05DA4 No chr5 131528299 131563556 132190147 132227863 +PA134870931 283208 HGNC:30135 ENSG00000149380 prolyl 4-hydroxylase subunit alpha 3 P4HA3 """collagen prolyl 4-hydroxylase alpha(III)"", ""prolyl 4-hydroxylase, alpha polypeptide III""" C-P4Halpha(III) Yes No Ensembl:ENSG00000149380, GeneCard:P4HA3, HGNC:HGNC:30135, ModBase:Q7Z4N8, NCBI Gene:283208, OMIM:608987, RefSeq DNA:NT_167190, RefSeq Protein:NP_878907, RefSeq RNA:NM_182904, UniProtKB:Q7Z4N8 No chr11 73958532 74022699 74259923 74311676 +PA32876 5034 HGNC:8548 ENSG00000185624 prolyl 4-hydroxylase subunit beta P4HB """collagen prolyl 4-hydroxylase beta"", ""prolyl 4-hydroxylase, beta polypeptide"", ""protein disulfide isomerase family A, member 1"", ""protein disulfide isomerase-associated 1""" DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PO4DB, PO4HB, PROHB Yes No Comparative Toxicogenomics Database:5034, Ensembl:ENSG00000185624, GenAtlas:P4HB, GeneCard:P4HB, HGNC:HGNC:8548, HumanCyc Gene:HS06845, ModBase:P07237, NCBI Gene:5034, OMIM:176790, RefSeq DNA:NT_010663, RefSeq Protein:NP_000909, RefSeq RNA:NM_000918, UCSC Genome Browser:NM_000918, UniProtKB:P07237 No chr17 79801034 79818566 81843158 81860668 +PA164724295 54681 HGNC:28858 ENSG00000178467 prolyl 4-hydroxylase, transmembrane P4HTM """Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"", ""prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)""" EGLN4, FLJ20262, HIFPH4, P4H-TM, PH-4, PH4, PHD4 Yes No Ensembl:ENSG00000178467, GeneCard:P4HTM, HGNC:HGNC:28858, HumanCyc Gene:HS11289, NCBI Gene:54681, RefSeq DNA:NT_022517, RefSeq Protein:NP_808807, RefSeq Protein:NP_808808, RefSeq RNA:NM_177938, RefSeq RNA:NM_177939, UniProtKB:Q9NXG6 No chr3 49027304 49044582 48989908 49007149 +PA32877 5036 HGNC:8550 ENSG00000170515 proliferation-associated 2G4 PA2G4 """ErbB-3 receptor binding protein"", ""IRES-specific cellular transacting factor 45"", ""proliferation-associated 2G4, 38kDa""" EBP1, ITAF45 Yes No Comparative Toxicogenomics Database:5036, Ensembl:ENSG00000170515, GenAtlas:PA2G4, GeneCard:PA2G4, HGNC:HGNC:8550, HumanCyc Gene:HS10141, ModBase:Q9UQ80, NCBI Gene:5036, OMIM:602145, RefSeq DNA:NT_029419, RefSeq Protein:NP_006182, RefSeq RNA:NM_006191, UCSC Genome Browser:NM_006191, UniProtKB:Q9UQ80 No chr12 56498103 56507694 56104319 56113910 +PA32878 389884 HGNC:8551 ENSG00000237828 proliferation-associated 2G4 pseudogene 1 PA2G4P1 Yes No Ensembl:ENSG00000237828, GenAtlas:PA2G4P, GeneCard:PA2G4P1, HGNC:HGNC:8551, NCBI Gene:389884, RefSeq DNA:NG_005879, RefSeq DNA:NT_011786 No chrX 120002187 120003804 120868348 120869962 +PA32879 170533 HGNC:16531 ENSG00000235698 proliferation-associated 2G4 pseudogene 2 PA2G4P2 PA2G4L5, bA102J14.2 Yes No Ensembl:ENSG00000235698, GenAtlas:PA2G4P2, GeneCard:PA2G4P2, HGNC:HGNC:16531, NCBI Gene:170533, RefSeq DNA:NG_001046, RefSeq DNA:NT_011387 No chr20 12360658 12362171 12380010 12381523 +PA142671207 619212 HGNC:31731 ENSG00000263405 proliferation-associated 2G4 pseudogene 3 PA2G4P3 HsT2542, PA2G4L4 Yes No Ensembl:ENSG00000263405, GeneCard:PA2G4P3, HGNC:HGNC:31731, NCBI Gene:619212, RefSeq DNA:NG_005881, RefSeq DNA:NT_010966 No chr18 25032202 25033780 27452238 27453816 +PA142671208 647033 HGNC:32217 ENSG00000230457 proliferation-associated 2G4 pseudogene 4 PA2G4P4 PA2G4L1 Yes No Ensembl:ENSG00000230457, GeneCard:PA2G4P4, HGNC:HGNC:32217, NCBI Gene:647033, RefSeq DNA:NT_005612, RefSeq RNA:NR_003284 No chr3 156527060 156529810 156809271 156812021 +PA142671209 389424 HGNC:32218 ENSG00000225580 proliferation-associated 2G4 pseudogene 5 PA2G4P5 PA2G4L2 Yes No Ensembl:ENSG00000225580, GeneCard:PA2G4P5, HGNC:HGNC:32218, NCBI Gene:389424, RefSeq DNA:NG_005878, RefSeq DNA:NT_025741 No chr6 112936892 112939232 112615690 112618030 +PA142671210 646083 HGNC:32219 ENSG00000231799 proliferation-associated 2G4 pseudogene 6 PA2G4P6 PA2G4L3 Yes No Ensembl:ENSG00000231799, GeneCard:PA2G4P6, HGNC:HGNC:32219, NCBI Gene:646083, RefSeq DNA:NG_005882, RefSeq DNA:NT_008470 No chr9 92064352 92066679 89449437 89451764 +PA162398551 80227 HGNC:25687 ENSG00000175575 proteasomal ATPase associated factor 1 PAAF1 proteasomal ATPase-associated factor 1 FLJ11848, Rpn14, WDR71 Yes No Ensembl:ENSG00000175575, GeneCard:PAAF1, HGNC:HGNC:25687, HumanCyc Gene:HS16476, ModBase:Q9BRP4, NCBI Gene:80227, RefSeq DNA:NT_167190, RefSeq Protein:NP_079431, RefSeq RNA:NM_025155, UniProtKB:Q9BRP4 No chr11 73587744 73638781 73876699 73927736 +PA166352021 116224 HGNC:23490 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 PABIR1 C9orf42, FAM122A, MGC17347 Yes No HGNC:HGNC:23490, NCBI Gene:116224 No 0 0 0 0 +PA128394763 159090 HGNC:30490 PABIR family member 2 PABIR2 family with sequence similarity 122B, synoviocyte proliferation-associated in collagen-induced arthritis 2 DKFZp686L20116, FAM122B, RP11-308B5.5, SPACIA2 Yes No GeneCard:FAM122B, HGNC:HGNC:30490, HumanCyc Gene:HS14622, NCBI Gene:159090, RefSeq DNA:NG_016348, RefSeq DNA:NT_011786, RefSeq Protein:NP_001160071, RefSeq Protein:NP_001160072, RefSeq Protein:NP_001164227, RefSeq Protein:NP_001164228, RefSeq Protein:NP_660327, RefSeq RNA:NM_001166599, RefSeq RNA:NM_001166600, RefSeq RNA:NM_001170756, RefSeq RNA:NM_001170757, RefSeq RNA:NM_145284, UCSC Genome Browser:NM_145284, UniProtKB:Q7Z309 No chrX 133903596 133931262 134769566 134797232 +PA166352022 159091 HGNC:25202 PABIR family member 3 PABIR3 FAM122C, RP3-473B4.1 Yes No HGNC:HGNC:25202, NCBI Gene:159091 No 0 0 0 0 +PA32880 26986 HGNC:8554 ENSG00000070756 poly(A) binding protein cytoplasmic 1 PABPC1 poly(A) binding protein, cytoplasmic 1 PAB1, PABP1, PABPC2, PABPL1 Yes No Comparative Toxicogenomics Database:26986, Ensembl:ENSG00000070756, GenAtlas:PABPC1, GeneCard:PABPC1, HGNC:HGNC:8554, HumanCyc Gene:HS01007, ModBase:P11940, NCBI Gene:26986, OMIM:604679, RefSeq DNA:NT_008046, RefSeq Protein:NP_002559, RefSeq RNA:NM_002568, UCSC Genome Browser:NM_002568, UniProtKB:P11940 No chr8 101715144 101734969 100702916 100722998 +PA162398552 80336 HGNC:15797 ENSG00000101104 poly(A) binding protein cytoplasmic 1 like PABPC1L poly(A) binding protein, cytoplasmic 1-like C20orf119, PABPC1L1, dJ1069P2.3, ePAB Yes No Ensembl:ENSG00000101104, GeneCard:PABPC1L, HGNC:HGNC:15797, HumanCyc Gene:HS02193, ModBase:Q4VXU2, NCBI Gene:80336, RefSeq DNA:NT_011362, RefSeq Protein:NP_001118228, RefSeq RNA:NM_001124756, UniProtKB:Q4VXU2 No chr20 43538701 43587585 44910060 44959160 +PA162398587 340529 HGNC:27989 ENSG00000184388, ENSG00000186288 poly(A) binding protein cytoplasmic 1 like 2A PABPC1L2A poly(A) binding protein, cytoplasmic 1-like 2A RBM32A Yes No Ensembl:ENSG00000184388, Ensembl:ENSG00000186288, GeneCard:PABPC1L2A, HGNC:HGNC:27989, NCBI Gene:340529, RefSeq DNA:NT_011669, RefSeq Protein:NP_001012995, RefSeq RNA:NM_001012977 No chrX 72297177 72299351 73077338 73079512 +PA162398594 645974 HGNC:31852 ENSG00000184388 poly(A) binding protein cytoplasmic 1 like 2B PABPC1L2B poly(A) binding protein, cytoplasmic 1-like 2B RBM32B Yes No Ensembl:ENSG00000184388, GeneCard:PABPC1L2B, HGNC:HGNC:31852, ModBase:Q5JQF8, NCBI Gene:645974, RefSeq DNA:NT_011669, RefSeq Protein:NP_001035971, RefSeq RNA:NM_001042506, UniProtKB:Q5JQF8 No chrX 72223352 72225551 73003513 73005712 +PA32885 26980 HGNC:8558 ENSG00000231707 poly(A) binding protein, cytoplasmic 1 pseudogene 1 PABPC1P1 PABP1 Yes No Ensembl:ENSG00000231707, GenAtlas:PABPCP1, GeneCard:PABPC1P1, HGNC:HGNC:8558, NCBI Gene:26980, RefSeq DNA:NG_001268, RefSeq DNA:NT_016297 No chr4 39975056 39975997 39973443 39974339 +PA32889 285314 HGNC:37992 ENSG00000239443 poly(A) binding protein, cytoplasmic 1 pseudogene 10 PABPC1P10 D3S3192 Yes No Ensembl:ENSG00000239443, GenAtlas:PABPL1, GeneCard:PABPC1P10, HGNC:HGNC:37992, NCBI Gene:285314, OMIM:173865, UCSC Genome Browser:NM_002568 No chr3 155027216 155027596 155309427 155310005 +PA32886 728773 HGNC:8559 ENSG00000198526 poly(A) binding protein, cytoplasmic 1 pseudogene 2 PABPC1P2 PABP2, PABP4 Yes No Ensembl:ENSG00000198526, GenAtlas:PABPCP2, GeneCard:PABPC1P2, HGNC:HGNC:8559, ModBase:Q6NV95, NCBI Gene:728773, RefSeq DNA:NG_001267, RefSeq DNA:NT_022135, RefSeq RNA:NR_026904, RefSeq RNA:XR_015420, RefSeq RNA:XR_015734, RefSeq RNA:XR_041739 No chr2 147344625 147348558 146587057 146590990 +PA32887 26978 HGNC:8560 ENSG00000230673 poly(A) binding protein, cytoplasmic 1 pseudogene 3 PABPC1P3 PABP3 Yes No Ensembl:ENSG00000230673, GenAtlas:PABPCP3, GeneCard:PABPC1P3, HGNC:HGNC:8560, NCBI Gene:26978, RefSeq DNA:NG_001266, RefSeq DNA:NT_011669 No chrX 73802419 73803382 74582662 74583542 +PA32882 5042 HGNC:8556 ENSG00000151846 poly(A) binding protein cytoplasmic 3 PABPC3 """poly(A) binding protein, cytoplasmic 3"", ""testis PABP""" PABP3, PABPL3, tPABP Yes No Ensembl:ENSG00000151846, GenAtlas:PABPC3, GeneCard:PABPC3, HGNC:HGNC:8556, HumanCyc Gene:HS07774, ModBase:Q9H361, NCBI Gene:5042, OMIM:604680, RefSeq DNA:NT_024524, RefSeq Protein:NP_112241, RefSeq RNA:NM_030979, UCSC Genome Browser:NM_030979, UniProtKB:Q5VX58, UniProtKB:Q9H361 No chr13 25670276 25672705 25096138 25098567 +PA32883 8761 HGNC:8557 ENSG00000090621 poly(A) binding protein cytoplasmic 4 PABPC4 """Inducible poly(A)-binding protein"", ""activated-platelet protein 1"", ""poly(A) binding protein, cytoplasmic 4 (inducible form)""" APP-1, iPABP Yes No Ensembl:ENSG00000090621, GenAtlas:PABPC4, GeneCard:PABPC4, HGNC:HGNC:8557, HumanCyc Gene:HS01700, ModBase:Q13310, NCBI Gene:8761, OMIM:603407, RefSeq DNA:NT_032977, RefSeq Protein:NP_001129125, RefSeq Protein:NP_001129126, RefSeq Protein:NP_003810, RefSeq RNA:NM_001135653, RefSeq RNA:NM_001135654, RefSeq RNA:NM_003819, UCSC Genome Browser:NM_003819, UniProtKB:Q13310, UniProtKB:Q4VC03 No chr1 40026485 40042522 39560813 39576849 +PA142671211 132430 HGNC:31955 ENSG00000254535 poly(A) binding protein cytoplasmic 4 like PABPC4L poly(A) binding protein, cytoplasmic 4-like Yes No Ensembl:ENSG00000254535, HGNC:HGNC:31955, NCBI Gene:132430, RefSeq DNA:NT_016354, RefSeq Protein:NP_001108206, RefSeq RNA:NM_001114734, RefSeq RNA:NR_003550 No chr4 135117488 135122903 133948459 134201748 +PA32884 140886 HGNC:13629 ENSG00000174740 poly(A) binding protein cytoplasmic 5 PABPC5 poly(A) binding protein, cytoplasmic 5 PABP5 Yes No Ensembl:ENSG00000174740, GenAtlas:PABPC5, GeneCard:PABPC5, HGNC:HGNC:13629, HumanCyc Gene:HS10825, ModBase:Q96DU9, NCBI Gene:140886, OMIM:300407, RefSeq DNA:NG_021346, RefSeq DNA:NT_011651, RefSeq Protein:NP_543022, RefSeq RNA:NM_080832, UCSC Genome Browser:NM_080832, UniProtKB:Q96DU9 No chrX 90689597 90693583 91434598 91438584 +PA145149056 102724167 HGNC:31845 ENSG00000234161 PABPC5 antisense RNA 1 PABPC5-AS1 OTTHUMG00000021960 Yes No Ensembl:ENSG00000234161, GeneCard:PABPC5-AS1, HGNC:HGNC:31845, NCBI Gene:102724167 No chrX +PA32891 8106 HGNC:8565 ENSG00000100836 poly(A) binding protein nuclear 1 PABPN1 poly(A) binding protein, nuclear 1 OPMD, PAB2, PABP2 Yes No Comparative Toxicogenomics Database:8106, Ensembl:ENSG00000100836, GenAtlas:PABPN1, GeneCard:PABPN1, HGNC:HGNC:8565, HumanCyc Gene:HS02152, ModBase:Q86U42, NCBI Gene:8106, OMIM:164300, OMIM:602279, RefSeq DNA:NG_008239, RefSeq DNA:NT_026437, RefSeq Protein:NP_004634, RefSeq RNA:NM_004643, UCSC Genome Browser:NM_004643, UniProtKB:Q86U42 No chr14 23789397 23795394 23320188 23326185 +PA165450439 390748 HGNC:37237 ENSG00000205022 PABPN1 like, cytoplasmic PABPN1L """embryonic poly(A) binding protein 2"", ""poly(A) binding protein nuclear 1 like, cytoplasmic"", ""poly(A) binding protein, nuclear 1-like (cytoplasmic)""" ePABP2 Yes No Ensembl:ENSG00000205022, GeneCard:PABPN1L, HGNC:HGNC:37237, NCBI Gene:390748, RefSeq DNA:NT_010542, RefSeq Protein:NP_001073956, RefSeq RNA:NM_001080487 No chr16 88929746 88933068 88862623 88870152 +PA32892 5043 HGNC:8566 pseudoautosomal boundary region, X-linked PABX Yes No GenAtlas:PABX, GeneCard:PABX, HGNC:HGNC:8566, NCBI Gene:5043 No chrX +PA32893 5044 HGNC:8567 pseudoautosomal boundary region, Y-linked PABY Yes No GenAtlas:PABY, GeneCard:PABY, HGNC:HGNC:8567, NCBI Gene:5044 No chrY +PA162406386 55248 HGNC:25593 ENSG00000065600 proton activated chloride channel 1 PACC1 acid-sensitive outwardly rectifying channel, transmembrane protein 206 ASOR, C1orf75, FLJ10874, PAC, PAORAC, TMEM206 Yes No Ensembl:ENSG00000065600, GeneCard:TMEM206, HGNC:HGNC:25593, HumanCyc Gene:HS12174, ModBase:Q9H813, NCBI Gene:55248, RefSeq DNA:NT_167186, RefSeq Protein:NP_001185791, RefSeq Protein:NP_060722, RefSeq RNA:NM_001198862, RefSeq RNA:NM_018252, UniProtKB:Q9H813 No chr1 212537816 212588267 212364474 212415508 +PA134909011 135138 HGNC:19152 ENSG00000112530 parkin coregulated PACRG PARK2 co-regulated BUG21, FLJ32724, Glup, HAK005771, PARK2CRG, pf12 Yes No Comparative Toxicogenomics Database:135138, Ensembl:ENSG00000112530, GeneCard:PACRG, HGNC:HGNC:19152, ModBase:Q96M98, NCBI Gene:135138, OMIM:607572, OMIM:608427, RefSeq DNA:NG_011525, RefSeq DNA:NT_025741, RefSeq Protein:NP_001073847, RefSeq Protein:NP_001073848, RefSeq Protein:NP_689623, RefSeq RNA:NM_001080378, RefSeq RNA:NM_001080379, RefSeq RNA:NM_152410, UniProtKB:Q96M98 No chr6 163148164 163736524 162726870 163315492 +PA164724318 133015 HGNC:28442 ENSG00000163138 parkin coregulated like PACRGL PARK2 co-regulated-like C4orf28, MGC29898 Yes No Ensembl:ENSG00000163138, GeneCard:PACRGL, HGNC:HGNC:28442, HumanCyc Gene:HS15030, ModBase:Q8N7B6, NCBI Gene:133015, RefSeq DNA:NT_006316, RefSeq Protein:NP_001124199, RefSeq Protein:NP_659485, RefSeq RNA:NM_001130727, RefSeq RNA:NM_145048, UniProtKB:B4DMN7, UniProtKB:Q8N7B6 No chr4 20702036 20729980 20696282 20757766 +PA134989529 55690 HGNC:30032 ENSG00000175115 phosphofurin acidic cluster sorting protein 1 PACS1 FLJ10209, KIAA1175 Yes No Comparative Toxicogenomics Database:55690, Ensembl:ENSG00000175115, GeneCard:PACS1, HGNC:HGNC:30032, HumanCyc Gene:HS10881, ModBase:Q9ULP5, NCBI Gene:55690, OMIM:607492, RefSeq DNA:NT_167190, RefSeq Protein:NP_060496, RefSeq RNA:NM_018026, UniProtKB:Q6VY07 No chr11 65837747 66012218 66070276 66244747 +PA134941470 23241 HGNC:23794 ENSG00000179364 phosphofurin acidic cluster sorting protein 2 PACS2 KIAA0602, PACS1L Yes No Comparative Toxicogenomics Database:23241, Ensembl:ENSG00000179364, GeneCard:PACS2, HGNC:HGNC:23794, ModBase:Q86VP3, NCBI Gene:23241, OMIM:610423, RefSeq DNA:NT_026437, RefSeq Protein:NP_001094383, RefSeq Protein:NP_056012, RefSeq RNA:NM_001100913, RefSeq RNA:NM_015197, UniProtKB:Q86VP3 No chr14 105767170 105864484 105300811 105398147 +PA32896 29993 HGNC:8570 ENSG00000124507 protein kinase C and casein kinase substrate in neurons 1 PACSIN1 syndapin I SDPI Yes No Ensembl:ENSG00000124507, GenAtlas:PACSIN1, GeneCard:PACSIN1, HGNC:HGNC:8570, HumanCyc Gene:HS04782, ModBase:Q9BY11, NCBI Gene:29993, OMIM:606512, RefSeq DNA:NT_007592, RefSeq Protein:NP_001186512, RefSeq Protein:NP_065855, RefSeq RNA:NM_001199583, RefSeq RNA:NM_020804, UCSC Genome Browser:NM_020804, UniProtKB:Q5TZC3, UniProtKB:Q9BY11 No chr6 34433838 34503000 34466061 34536262 +PA32897 11252 HGNC:8571 ENSG00000100266 protein kinase C and casein kinase substrate in neurons 2 PACSIN2 syndapin II SDPII Yes Yes Comparative Toxicogenomics Database:11252, Ensembl:ENSG00000100266, GenAtlas:PACSIN2, GeneCard:PACSIN2, HGNC:HGNC:8571, HumanCyc Gene:HS02018, ModBase:Q9UNF0, NCBI Gene:11252, OMIM:604960, RefSeq DNA:NT_011520, RefSeq Protein:NP_001171899, RefSeq Protein:NP_001171900, RefSeq Protein:NP_009160, RefSeq RNA:NM_001184970, RefSeq RNA:NM_001184971, RefSeq RNA:NM_007229, UCSC Genome Browser:NM_007229, UniProtKB:Q6FIA3, UniProtKB:Q9UNF0 No chr22 43265772 43411184 42869766 43015690 +PA32898 29763 HGNC:8572 ENSG00000165912 protein kinase C and casein kinase substrate in neurons 3 PACSIN3 syndapin III SDPIII Yes No Comparative Toxicogenomics Database:29763, Ensembl:ENSG00000165912, GenAtlas:PACSIN3, GeneCard:PACSIN3, HGNC:HGNC:8572, HumanCyc Gene:HS09300, ModBase:Q9UKS6, NCBI Gene:29763, OMIM:606513, RefSeq DNA:NT_009237, RefSeq Protein:NP_001171903, RefSeq Protein:NP_001171904, RefSeq Protein:NP_057307, RefSeq RNA:NM_001184974, RefSeq RNA:NM_001184975, RefSeq RNA:NM_016223, UCSC Genome Browser:NM_016223, UniProtKB:Q9UKS6 No chr11 47199073 47208010 47177522 47186459 +PA32899 29943 HGNC:18367 ENSG00000142623 peptidyl arginine deiminase 1 PADI1 """hPAD-colony 10"", ""peptidyl arginine deiminase, type I"", ""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1""" HPAD10, PAD1, PDI, PDI1 Yes No Comparative Toxicogenomics Database:29943, Ensembl:ENSG00000142623, GenAtlas:PADI1, GeneCard:PADI1, HGNC:HGNC:18367, HumanCyc Gene:HS06945, ModBase:Q9ULC6, NCBI Gene:29943, OMIM:607934, RefSeq DNA:NT_004610, RefSeq Protein:NP_037490, RefSeq RNA:NM_013358, UCSC Genome Browser:NM_013358, UniProtKB:Q9ULC6 No chr1 17531621 17572501 17205123 17246006 +PA32900 11240 HGNC:18341 ENSG00000117115 peptidyl arginine deiminase 2 PADI2 peptidyl arginine deiminase, type II KIAA0994, PDI2 Yes No Comparative Toxicogenomics Database:11240, Ensembl:ENSG00000117115, GenAtlas:PADI2, GeneCard:PADI2, HGNC:HGNC:18341, HumanCyc Gene:HS04094, ModBase:Q9Y2J8, NCBI Gene:11240, OMIM:607935, RefSeq DNA:NT_004610, RefSeq Protein:NP_031391, RefSeq RNA:NM_007365, UCSC Genome Browser:NM_007365, UniProtKB:Q9Y2J8 No chr1 17393256 17445948 17066761 17119453 +PA32901 51702 HGNC:18337 ENSG00000142619 peptidyl arginine deiminase 3 PADI3 peptidyl arginine deiminase, type III PDI3 Yes No Comparative Toxicogenomics Database:51702, Ensembl:ENSG00000142619, GenAtlas:PADI3, GeneCard:PADI3, HGNC:HGNC:18337, HumanCyc Gene:HS06944, ModBase:Q9ULW8, NCBI Gene:51702, OMIM:606755, RefSeq DNA:NT_004610, RefSeq Protein:NP_057317, RefSeq RNA:NM_016233, UCSC Genome Browser:NM_016233, UniProtKB:Q9ULW8 No chr1 17575593 17610728 17249079 17284233 +PA32903 23569 HGNC:18368 ENSG00000159339 peptidyl arginine deiminase 4 PADI4 peptidyl arginine deiminase, type IV PAD, PADI5, PDI4, PDI5 Yes Yes Comparative Toxicogenomics Database:23569, Ensembl:ENSG00000159339, GenAtlas:PADI4, GeneCard:PADI4, HGNC:HGNC:18368, HumanCyc Gene:HS08389, NCBI Gene:23569, OMIM:180300, OMIM:605347, RefSeq DNA:NG_023261, RefSeq DNA:NT_004610, RefSeq Protein:NP_036519, RefSeq RNA:NM_012387, UCSC Genome Browser:NM_012387, UniProtKB:B2RBW0, UniProtKB:Q9UM07 No chr1 17634690 17690495 17308195 17364004 +PA134975206 353238 HGNC:20449 ENSG00000276747 peptidyl arginine deiminase 6 PADI6 peptidyl arginine deiminase, type VI Yes No Ensembl:ENSG00000276747, GeneCard:PADI6, HGNC:HGNC:20449, ModBase:Q6TGC4, NCBI Gene:353238, OMIM:610363, RefSeq DNA:NT_004610, RefSeq Protein:NP_997304, RefSeq RNA:NM_207421, UniProtKB:Q6TGC4 No chr1 17698741 17728195 17372196 17401699 +PA32904 5047 HGNC:8573 ENSG00000122133 progestagen associated endometrial protein PAEP PP14 protein (placental protein 14), alpha uterine protein, glycodelin, glycodelin-A, glycodelin-F, glycodelin-S, pregnancy-associated endometrial alpha-2-globulin, progestagen-associated endometrial protein, progesterone-associated endometrial protein GD, GdA, GdF, GdS, MGC138509, MGC142288, PAEG, PEP, PP14 Yes No Comparative Toxicogenomics Database:5047, Ensembl:ENSG00000122133, GenAtlas:PAEP, GeneCard:PAEP, HGNC:HGNC:8573, HumanCyc Gene:HS04547, ModBase:P09466, NCBI Gene:5047, OMIM:173310, RefSeq DNA:NT_019501, RefSeq Protein:NP_001018059, RefSeq Protein:NP_002562, RefSeq RNA:NM_001018049, RefSeq RNA:NM_002571, UCSC Genome Browser:NM_002571, UniProtKB:P09466 No chr9 138453601 138458622 135561624 135566776 +PA142671206 54623 HGNC:25459 ENSG00000006712 PAF1 homolog, Paf1/RNA polymerase II complex component PAF1 Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) F23149_1, FLJ11123, PD2 Yes No Ensembl:ENSG00000006712, GeneCard:PAF1, HGNC:HGNC:25459, HumanCyc Gene:HS12015, ModBase:Q8N7H5, NCBI Gene:54623, OMIM:610506, RefSeq DNA:NT_011109, RefSeq Protein:NP_061961, RefSeq RNA:NM_019088, UniProtKB:Q8N7H5 No chr19 39876269 39881835 39385629 39391195 +PA32905 5048 HGNC:8574 ENSG00000007168 platelet activating factor acetylhydrolase 1b regulatory subunit 1 PAFAH1B1 """lissencephaly-1"", ""platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)""" LIS1, MDCR, MDS, NudF, PAFAH Yes No Comparative Toxicogenomics Database:5048, Ensembl:ENSG00000007168, GenAtlas:PAFAH1B1, GeneCard:PAFAH1B1, HGNC:HGNC:8574, HumanCyc Gene:HS00204, ModBase:P43034, NCBI Gene:5048, OMIM:247200, OMIM:601545, OMIM:607432, RefSeq DNA:NG_009799, RefSeq DNA:NT_010718, RefSeq Protein:NP_000421, RefSeq RNA:NM_000430, UCSC Genome Browser:NM_000430, UniProtKB:P43034 No chr17 2496923 2588909 2593210 2685617 +PA32908 7845 HGNC:8577 ENSG00000214354 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 pseudogene 1 PAFAH1B1P1 LIS2 Yes No Ensembl:ENSG00000214354, GenAtlas:PAFAH1P1, GeneCard:PAFAH1B1P1, HGNC:HGNC:8577, NCBI Gene:7845, RefSeq DNA:NG_003165, RefSeq DNA:NT_022184 No chr2 87865192 87866769 87565672 87567327 +PA32909 27002 HGNC:8578 ENSG00000223973 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 pseudogene 2 PAFAH1B1P2 LIS2P Yes No Ensembl:ENSG00000223973, GenAtlas:PAFAH1P2, GeneCard:PAFAH1B1P2, HGNC:HGNC:8578, NCBI Gene:27002, RefSeq DNA:NG_003167, RefSeq DNA:NT_022135 No chr2 112141139 112142720 111383488 111385143 +PA32906 5049 HGNC:8575 ENSG00000168092 platelet activating factor acetylhydrolase 1b catalytic subunit 2 PAFAH1B2 """PAF-AH1b alpha 2 subunit"", ""platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)""" Yes Yes Comparative Toxicogenomics Database:5049, Ensembl:ENSG00000168092, GenAtlas:PAFAH1B2, GeneCard:PAFAH1B2, HGNC:HGNC:8575, HumanCyc Gene:HS09693, ModBase:P68402, NCBI Gene:5049, OMIM:602508, RefSeq DNA:NT_033899, RefSeq Protein:NP_001171675, RefSeq Protein:NP_001171676, RefSeq Protein:NP_001171677, RefSeq Protein:NP_002563, RefSeq RNA:NM_001184746, RefSeq RNA:NM_001184747, RefSeq RNA:NM_001184748, RefSeq RNA:NM_002572, UCSC Genome Browser:NM_002572, UniProtKB:A8DPS5, UniProtKB:P68402, UniProtKB:Q6IBR6 No chr11 117015000 117048889 117144284 117178173 +PA32907 5050 HGNC:8576 ENSG00000079462 platelet activating factor acetylhydrolase 1b catalytic subunit 3 PAFAH1B3 """PAF-AH1b alpha 1 subunit"", ""platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)""" Yes No Comparative Toxicogenomics Database:5050, Ensembl:ENSG00000079462, GenAtlas:PAFAH1B3, GeneCard:PAFAH1B3, HGNC:HGNC:8576, HumanCyc Gene:HS01330, ModBase:Q15102, NCBI Gene:5050, OMIM:603074, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139411, RefSeq Protein:NP_001139412, RefSeq Protein:NP_002564, RefSeq RNA:NM_001145939, RefSeq RNA:NM_001145940, RefSeq RNA:NM_002573, UCSC Genome Browser:NM_002573, UniProtKB:Q15102 No chr19 42801185 42806952 42297033 42302800 +PA32910 5051 HGNC:8579 ENSG00000158006 platelet activating factor acetylhydrolase 2 PAFAH2 platelet-activating factor acetylhydrolase 2, 40kDa HSD-PLA2 Yes No Comparative Toxicogenomics Database:5051, Ensembl:ENSG00000158006, GenAtlas:PAFAH2, GeneCard:PAFAH2, HGNC:HGNC:8579, HumanCyc Gene:HS08258, ModBase:Q99487, NCBI Gene:5051, OMIM:602344, RefSeq DNA:NT_004610, RefSeq Protein:NP_000428, RefSeq RNA:NM_000437, UCSC Genome Browser:NM_000437, UniProtKB:Q99487 No chr1 26286258 26326366 25959764 25998164 +PA142671201 55824 HGNC:30043 ENSG00000076641 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 PAG1 Csk-binding protein, phosphoprotein associated with glycosphingolipid microdomains 1, transmembrane adaptor protein PAG CBP, PAG Yes No Ensembl:ENSG00000076641, GeneCard:PAG1, HGNC:HGNC:30043, HumanCyc Gene:HS01213, ModBase:Q9NWQ8, NCBI Gene:55824, OMIM:605767, RefSeq DNA:NT_008183, RefSeq Protein:NP_060910, RefSeq RNA:NM_018440, UniProtKB:Q9NWQ8 No chr8 81880045 82024303 80967810 81112080 +PA28522 8712 HGNC:4107 ENSG00000068985 PAGE family member 1 PAGE1 P antigen family, member 1 (prostate associated) CT16.3, GAGE-9, GAGEB1, PAGE-1 Yes No Ensembl:ENSG00000068985, GenAtlas:PAGE1, GeneCard:PAGE1, HGNC:HGNC:4107, HumanCyc Gene:HS00950, ModBase:O75459, NCBI Gene:8712, OMIM:300288, RefSeq DNA:NG_012550, RefSeq DNA:NT_086939, RefSeq Protein:NP_003776, RefSeq RNA:NM_003785, UCSC Genome Browser:NM_003785, UniProtKB:O75459 No chrX 49452053 49460596 49687450 49696019 +PA142671202 203569 HGNC:31804 ENSG00000234068 PAGE family member 2 PAGE2 P antigen family, member 2 (prostate associated) CT16.4, GAGEC2, MGC62094, PAGE-2 Yes No Ensembl:ENSG00000234068, GeneCard:PAGE2, HGNC:HGNC:31804, NCBI Gene:203569, OMIM:300738, RefSeq DNA:NT_011630, RefSeq Protein:NP_997222, RefSeq RNA:NM_207339, UniProtKB:Q7Z2X7 No chrX 55115497 55119260 55089052 55092836 +PA142671203 389860 HGNC:31805 ENSG00000238269 PAGE family member 2B PAGE2B P antigen family, member 2B CT16.5 Yes No Ensembl:ENSG00000238269, GeneCard:PAGE2B, HGNC:HGNC:31805, ModBase:Q5JRK9, NCBI Gene:389860, RefSeq DNA:NT_011630, RefSeq Protein:NP_001015038, RefSeq RNA:NM_001015038, UniProtKB:Q5JRK9 No chrX 55101489 55105336 55027927 55078903 +PA28525 139793 HGNC:4110 ENSG00000204279 PAGE family member 3 PAGE3 P antigen family, member 3 (prostate associated) CT16.6, GAGED1, PAGE-3 Yes No Ensembl:ENSG00000204279, GenAtlas:PAGE3, GeneCard:PAGE3, HGNC:HGNC:4110, NCBI Gene:139793, OMIM:300739, RefSeq DNA:NG_017195, RefSeq DNA:NT_011630, RefSeq Protein:NP_001017931, RefSeq RNA:NM_001017931, RefSeq RNA:NR_033460 No chrX 55284848 55291165 55257833 55264916 +PA28523 9506 HGNC:4108 ENSG00000101951 PAGE family member 4 PAGE4 P antigen family, member 4 (prostate associated) CT16.7, GAGEC1, PAGE-4 Yes No Comparative Toxicogenomics Database:9506, Ensembl:ENSG00000101951, GenAtlas:PAGE4, GeneCard:PAGE4, HGNC:HGNC:4108, HumanCyc Gene:HS02322, ModBase:O60829, NCBI Gene:9506, OMIM:300287, RefSeq DNA:NT_086939, RefSeq Protein:NP_008934, RefSeq RNA:NM_007003, UCSC Genome Browser:NM_007003, UniProtKB:O60829 No chrX 49593863 49598572 49829260 49834264 +PA142671204 90737 HGNC:29992 ENSG00000158639 PAGE family member 5 PAGE5 """P antigen family, member 5 (prostate associated)"", ""cancer/testis antigen family 16, member 1"", ""cancer/testis antigen family 16, member 2""" CT16.1, CT16.2, PAGE-5 Yes No Ensembl:ENSG00000158639, GeneCard:PAGE5, HGNC:HGNC:29992, HumanCyc Gene:HS14729, ModBase:Q96GU1, NCBI Gene:90737, RefSeq DNA:NT_011630, RefSeq Protein:NP_001013453, RefSeq Protein:NP_569734, RefSeq RNA:NM_001013435, RefSeq RNA:NM_130467, UniProtKB:Q5JUL0, UniProtKB:Q96GU1 No chrX 55246791 55250541 55220347 55224108 +PA142672260 79447 HGNC:28707 ENSG00000280789 PAXIP1 associated glutamate rich protein 1 PAGR1 PAXIP1 associated glutamate-rich protein 1, PTIP-associated 1 protein, glutamate-rich coactivator associated with SRC1, glutamate-rich coactivator interacting with SRC1/NCOA1 C16orf53, GAS, MGC4606, PA1 Yes No Ensembl:ENSG00000280789, GeneCard:C16orf53, HGNC:HGNC:28707, ModBase:Q9BTK6, NCBI Gene:79447, OMIM:612033, RefSeq DNA:NT_010393, RefSeq Protein:NP_078792, RefSeq RNA:NM_024516, UniProtKB:Q9BTK6 No chr16 29827528 29833816 29816207 29822495 +PA32911 5053 HGNC:8582 ENSG00000171759 phenylalanine hydroxylase PAH phenylalanine 4-monooxygenase PH Yes Yes Comparative Toxicogenomics Database:5053, Ensembl:ENSG00000171759, GenAtlas:PAH, GeneCard:PAH, HGNC:HGNC:8582, HumanCyc Gene:HS10374, ModBase:P00439, NCBI Gene:5053, OMIM:261600, OMIM:612349, RefSeq DNA:NG_008690, RefSeq DNA:NT_029419, RefSeq Protein:NP_000268, RefSeq RNA:NM_000277, UCSC Genome Browser:NM_000277, UniProtKB:P00439 No chr12 103232104 103311381 102838326 102917603 +PA32914 10606 HGNC:8587 ENSG00000128050 phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase ADE2H1, AIRC, PAIS Yes No Comparative Toxicogenomics Database:10606, Ensembl:ENSG00000128050, GenAtlas:PAICS, GeneCard:PAICS, HGNC:HGNC:8587, HumanCyc Gene:HS05155, ModBase:P22234, NCBI Gene:10606, OMIM:172439, RefSeq DNA:NT_022853, RefSeq Protein:NP_001072992, RefSeq Protein:NP_001072993, RefSeq Protein:NP_006443, RefSeq RNA:NM_001079524, RefSeq RNA:NM_001079525, RefSeq RNA:NM_006452, UCSC Genome Browser:NM_006452, UniProtKB:P22234, UniProtKB:Q68CQ5 No chr4 57276682 57327534 56435749 56461368 +PA32915 780814 HGNC:8588 ENSG00000226055 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 1 PAICSP1 Yes No Ensembl:ENSG00000226055, GenAtlas:PAICSP1, GeneCard:PAICSP1, HGNC:HGNC:8588, NCBI Gene:780814 No chr9 37878058 37912432 37878061 37912435 +PA32916 780815 HGNC:8589 ENSG00000228595 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2 PAICSP2 Yes No Ensembl:ENSG00000228595, GenAtlas:PAICSP2, GeneCard:PAICSP2, HGNC:HGNC:8589, NCBI Gene:780815 No chr9 94373548 94374813 91611266 91612531 +PA134941557 10605 HGNC:16945 ENSG00000172239 poly(A) binding protein interacting protein 1 PAIP1 PABP-interacting protein 1 Yes No Comparative Toxicogenomics Database:10605, Ensembl:ENSG00000172239, GeneCard:PAIP1, HGNC:HGNC:16945, HumanCyc Gene:HS10477, ModBase:Q9H074, NCBI Gene:10605, OMIM:605184, RefSeq DNA:NT_006576, RefSeq Protein:NP_006442, RefSeq Protein:NP_877590, RefSeq Protein:NP_899152, RefSeq RNA:NM_006451, RefSeq RNA:NM_182789, RefSeq RNA:NM_183323, UniProtKB:A6NKV8, UniProtKB:Q9H074 No chr5 43526369 43557521 43526267 43557419 +PA134921503 100421582 HGNC:18240 ENSG00000233892 poly(A) binding protein interacting protein 1 pseudogene 1 PAIP1P1 bCX300M20.3, bPG254M11.3, bQB44E15.5 Yes No Ensembl:ENSG00000233892, GeneCard:PAIP1P1, HGNC:HGNC:18240, NCBI Gene:100421582 No chr6 30154575 30156383 30186798 30188606 +PA134897284 51247 HGNC:17970 ENSG00000120727 poly(A) binding protein interacting protein 2 PAIP2 PABP-interacting protein 2 PAIP2A Yes No Comparative Toxicogenomics Database:51247, Ensembl:ENSG00000120727, GeneCard:PAIP2, HGNC:HGNC:17970, HumanCyc Gene:HS13002, NCBI Gene:51247, OMIM:605604, RefSeq DNA:NT_034772, RefSeq Protein:NP_001028284, RefSeq Protein:NP_057564, RefSeq RNA:NM_001033112, RefSeq RNA:NM_016480, UniProtKB:Q9BPZ3 No chr5 138677519 138705409 139341832 139369720 +PA162398595 400961 HGNC:29200 ENSG00000124374 poly(A) binding protein interacting protein 2B PAIP2B KIAA1155 Yes No Ensembl:ENSG00000124374, GeneCard:PAIP2B, HGNC:HGNC:29200, NCBI Gene:400961, OMIM:611018, RefSeq DNA:NT_022184, RefSeq Protein:NP_065192, RefSeq Protein:XP_376062, RefSeq Protein:XP_935497, RefSeq Protein:XP_947418, RefSeq Protein:XP_951001, RefSeq RNA:NM_020459, RefSeq RNA:XM_376062, RefSeq RNA:XM_930404, RefSeq RNA:XM_942325, RefSeq RNA:XM_945908, UniProtKB:Q9ULR5 No chr2 71409868 71454233 71182738 71227110 +PA32917 5058 HGNC:8590 ENSG00000149269 p21 (RAC1) activated kinase 1 PAK1 """STE20 homolog, yeast"", ""p21 protein (Cdc42/Rac)-activated kinase 1""" Yes No Comparative Toxicogenomics Database:5058, Ensembl:ENSG00000149269, GenAtlas:PAK1, GeneCard:PAK1, HGNC:HGNC:8590, HumanCyc Gene:HS07598, ModBase:Q13153, NCBI Gene:5058, OMIM:602590, RefSeq DNA:NT_167190, RefSeq Protein:NP_001122092, RefSeq Protein:NP_002567, RefSeq RNA:NM_001128620, RefSeq RNA:NM_002576, UCSC Genome Browser:NM_002576, UniProtKB:Q13153 No chr11 77033060 77185108 77322015 77474063 +PA134928299 55003 HGNC:20882 ENSG00000111845 PAK1 interacting protein 1 PAK1IP1 FLJ20624, MAK11, PIP1, WDR84, bA421M1.5, hPIP1 Yes No Comparative Toxicogenomics Database:55003, Ensembl:ENSG00000111845, GeneCard:PAK1IP1, HGNC:HGNC:20882, HumanCyc Gene:HS12753, ModBase:Q9NWT1, NCBI Gene:55003, OMIM:607811, RefSeq DNA:NT_007592, RefSeq Protein:NP_060376, RefSeq RNA:NM_017906, UniProtKB:Q9NWT1 No chr6 10695180 10710015 10690865 10709782 +PA32918 5062 HGNC:8591 ENSG00000180370 p21 (RAC1) activated kinase 2 PAK2 S6/H4 kinase, p21 protein (Cdc42/Rac)-activated kinase 2 PAK65, PAKgamma Yes No Comparative Toxicogenomics Database:5062, Ensembl:ENSG00000180370, GenAtlas:PAK2, GeneCard:PAK2, HGNC:HGNC:8591, HumanCyc Gene:HS11487, ModBase:Q13177, NCBI Gene:5062, OMIM:605022, RefSeq DNA:NG_009227, RefSeq DNA:NT_029928, RefSeq Protein:NP_002568, RefSeq RNA:NM_002577, UCSC Genome Browser:NM_002577, UniProtKB:A8K5M4, UniProtKB:Q13177 No chr3 196466728 196559518 196739857 196832647 +PA32919 5063 HGNC:8592 ENSG00000077264 p21 (RAC1) activated kinase 3 PAK3 p21 protein (Cdc42/Rac)-activated kinase 3 MRX30, MRX47, bPAK, hPAK3 Yes No Comparative Toxicogenomics Database:5063, Ensembl:ENSG00000077264, GenAtlas:PAK3, GeneCard:PAK3, HGNC:HGNC:8592, HumanCyc Gene:HS01238, ModBase:Q9P0J8, NCBI Gene:5063, OMIM:300142, OMIM:300558, RefSeq DNA:NG_008288, RefSeq DNA:NT_011651, RefSeq Protein:NP_001121638, RefSeq Protein:NP_001121639, RefSeq Protein:NP_001121640, RefSeq Protein:NP_001121644, RefSeq Protein:NP_001121645, RefSeq Protein:NP_002569, RefSeq RNA:NM_001128166, RefSeq RNA:NM_001128167, RefSeq RNA:NM_001128168, RefSeq RNA:NM_001128172, RefSeq RNA:NM_001128173, RefSeq RNA:NM_002578, UCSC Genome Browser:NM_002578, UniProtKB:B1GX77, UniProtKB:B1GX78, UniProtKB:B1GX79, UniProtKB:B2RCU6, UniProtKB:O75914 No chrX 110187513 110470590 110944241 111227361 +PA32920 10298 HGNC:16059 ENSG00000130669 p21 (RAC1) activated kinase 4 PAK4 p21 protein (Cdc42/Rac)-activated kinase 4 Yes No Comparative Toxicogenomics Database:10298, Ensembl:ENSG00000130669, GenAtlas:PAK4, GeneCard:PAK4, HGNC:HGNC:16059, HumanCyc Gene:HS05417, ModBase:O96013, NCBI Gene:10298, OMIM:605451, RefSeq DNA:NT_011109, RefSeq Protein:NP_001014831, RefSeq Protein:NP_001014832, RefSeq Protein:NP_001014834, RefSeq Protein:NP_001014835, RefSeq Protein:NP_005875, RefSeq RNA:NM_001014831, RefSeq RNA:NM_001014832, RefSeq RNA:NM_001014834, RefSeq RNA:NM_001014835, RefSeq RNA:NM_005884, UCSC Genome Browser:NM_005884, UniProtKB:O96013 No chr19 39616417 39670046 39125780 39179406 +PA32922 57144 HGNC:15916 ENSG00000101349 p21 (RAC1) activated kinase 5 PAK5 p21 protein (Cdc42/Rac)-activated kinase 7 KIAA1264, PAK5, PAK7 Yes No Ensembl:ENSG00000101349, GenAtlas:PAK7, GeneCard:PAK7, HGNC:HGNC:15916, HumanCyc Gene:HS02251, ModBase:Q9P286, NCBI Gene:57144, OMIM:608038, RefSeq DNA:NT_011387, RefSeq Protein:NP_065074, RefSeq Protein:NP_817127, RefSeq RNA:NM_020341, RefSeq RNA:NM_177990, UCSC Genome Browser:NM_020341, UniProtKB:B0AZM9, UniProtKB:Q9P286 No chr20 9518037 9819687 9537390 9839042 +PA32921 56924 HGNC:16061 ENSG00000137843 p21 (RAC1) activated kinase 6 PAK6 p21 protein (Cdc42/Rac)-activated kinase 6 PAK5 Yes No Comparative Toxicogenomics Database:56924, Ensembl:ENSG00000137843, GenAtlas:PAK6, GeneCard:PAK6, HGNC:HGNC:16061, HumanCyc Gene:HS06409, ModBase:Q9NQU5, NCBI Gene:56924, OMIM:608110, RefSeq DNA:NT_010194, RefSeq Protein:NP_001122100, RefSeq Protein:NP_001122101, RefSeq Protein:NP_064553, RefSeq RNA:NM_001128628, RefSeq RNA:NM_001128629, RefSeq RNA:NM_020168, UCSC Genome Browser:NM_020168, UniProtKB:A8K2G2, UniProtKB:B3KYB0, UniProtKB:Q9NQU5 No chr15 40509629 40569688 40239091 40277487 +PA162398608 79728 HGNC:26144 ENSG00000083093 partner and localizer of BRCA2 PALB2 Fanconi anemia, complementation group N FANCN, FLJ21816 Yes No Ensembl:ENSG00000083093, GeneCard:PALB2, HGNC:HGNC:26144, HumanCyc Gene:HS12274, ModBase:Q86YC2, NCBI Gene:79728, OMIM:114480, OMIM:610355, OMIM:610832, OMIM:613348, RefSeq DNA:NG_007406, RefSeq DNA:NT_010393, RefSeq Protein:NP_078951, RefSeq RNA:NM_024675, UniProtKB:Q86YC2 No chr16 23614481 23652678 23603162 23641357 +PA134986569 27143 HGNC:23530 ENSG00000107719 phosphatase domain containing paladin 1 PALD1 phosphatase domain containing, paladin 1 KIAA1274, PALD Yes No Comparative Toxicogenomics Database:27143, Ensembl:ENSG00000107719, GeneCard:KIAA1274, HGNC:HGNC:23530, ModBase:Q9ULE6, NCBI Gene:27143, RefSeq DNA:NT_030059, RefSeq Protein:NP_055246, RefSeq RNA:NM_014431, UniProtKB:Q9ULE6 No chr10 72238564 72328206 70458542 70568450 +PA142671205 23022 HGNC:17068 ENSG00000129116 palladin, cytoskeletal associated protein PALLD CGI-151, KIAA0992, SIH002 Yes No Comparative Toxicogenomics Database:23022, Ensembl:ENSG00000129116, GeneCard:PALLD, HGNC:HGNC:17068, NCBI Gene:23022, OMIM:260350, OMIM:606856, OMIM:608092, RefSeq DNA:NG_013376, RefSeq DNA:NT_016354, RefSeq Protein:NP_001159580, RefSeq Protein:NP_001159581, RefSeq Protein:NP_001159582, RefSeq Protein:NP_057165, RefSeq RNA:NM_001166108, RefSeq RNA:NM_001166109, RefSeq RNA:NM_001166110, RefSeq RNA:NM_016081, UniProtKB:B2RTX2, UniProtKB:B3KTG2, UniProtKB:B7ZMM5, UniProtKB:Q8WX93 No chr4 169418215 169849608 168497039 168928457 +PA32923 5064 HGNC:8594 ENSG00000099864 paralemmin PALM paralemmin-1 KIAA0270, PALM1 Yes No Ensembl:ENSG00000099864, GenAtlas:PALM, GeneCard:PALM, HGNC:HGNC:8594, HumanCyc Gene:HS01922, ModBase:O75781, NCBI Gene:5064, OMIM:608134, RefSeq DNA:NT_011255, RefSeq Protein:NP_001035224, RefSeq Protein:NP_002570, RefSeq RNA:NM_001040134, RefSeq RNA:NM_002579, UCSC Genome Browser:NM_002579, UniProtKB:O75781 No chr19 708953 748330 708953 748330 +PA32924 114299 HGNC:15845 paralemmin 2 PALM2 Yes No Comparative Toxicogenomics Database:114299, GenAtlas:PALM2, GeneCard:PALM2, HGNC:HGNC:15845, HumanCyc Gene:HS08233, ModBase:Q8IXS6, NCBI Gene:114299, RefSeq DNA:NT_008470, RefSeq Protein:NP_001032370, RefSeq Protein:NP_443749, RefSeq RNA:NM_001037293, RefSeq RNA:NM_053016, UCSC Genome Browser:NM_053016, UniProtKB:Q8IXS6 No chr9 112403068 112713756 109640788 109951476 +PA166352041 445815 HGNC:33529 PALM2 and AKAP2 fusion PALM2AKAP2 PALM2-AKAP2 Yes No HGNC:HGNC:33529, NCBI Gene:445815 No 0 0 0 0 +PA165393890 342979 HGNC:33274 ENSG00000187867 paralemmin 3 PALM3 Yes No Ensembl:ENSG00000187867, GeneCard:PALM3, HGNC:HGNC:33274, NCBI Gene:342979, RefSeq DNA:NT_011295, RefSeq Protein:NP_001138500, RefSeq RNA:NM_001145028, UniProtKB:A6NDB9 No chr19 14164179 14172908 14053367 14062137 +PA32925 54873 HGNC:15846 ENSG00000099260 palmdelphin PALMD C1orf11, FLJ20271, PALML Yes No Comparative Toxicogenomics Database:54873, Ensembl:ENSG00000099260, GenAtlas:PALMD, GeneCard:PALMD, HGNC:HGNC:15846, HumanCyc Gene:HS12366, ModBase:Q9NP74, NCBI Gene:54873, OMIM:610182, RefSeq DNA:NT_032977, RefSeq Protein:NP_060204, RefSeq RNA:NM_017734, UCSC Genome Browser:NM_017734, UniProtKB:Q9NP74 No chr1 100111431 100160097 99645875 99694541 +PA166352042 64398 HGNC:18669 protein associated with LIN7 1, MAGUK p55 family member PALS1 protein associated with Lin-7 1, stardust FLJ12615, MPP5 Yes No HGNC:HGNC:18669, NCBI Gene:64398 No 0 0 0 0 +PA166352043 51678 HGNC:18167 protein associated with LIN7 2, MAGUK p55 family member PALS2 MPP6, VAM-1, p55T Yes No HGNC:HGNC:18167, NCBI Gene:51678 No 0 0 0 0 +PA32926 5066 HGNC:8596 ENSG00000145730 peptidylglycine alpha-amidating monooxygenase PAM peptidyl-alpha-hydroxyglycine alpha-amidating lyase, peptidylglycine alpha-hydroxylating monooxygenase PAL, PAM-1, PHM Yes No Comparative Toxicogenomics Database:5066, Ensembl:ENSG00000145730, GenAtlas:PAM, GeneCard:PAM, HGNC:HGNC:8596, HumanCyc Gene:HS07279, ModBase:Q9UCG0, NCBI Gene:5066, OMIM:170270, RefSeq DNA:NT_034772, RefSeq Protein:NP_000910, RefSeq Protein:NP_001170777, RefSeq Protein:NP_620121, RefSeq Protein:NP_620176, RefSeq Protein:NP_620177, RefSeq RNA:NM_000919, RefSeq RNA:NM_001177306, RefSeq RNA:NM_138766, RefSeq RNA:NM_138821, RefSeq RNA:NM_138822, RefSeq RNA:NR_033440, UCSC Genome Browser:NM_000919, UniProtKB:P19021 No chr5 102201527 102366809 102754783 103031105 +PA166048989 51025 HGNC:29679 ENSG00000217930 presequence translocase associated motor 16 PAM16 mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction, presequence translocase-associated motor 16 homolog (S. cerevisiae) Magmas, TIMM16, Tim16 Yes No Ensembl:ENSG00000217930, HGNC:HGNC:29679, NCBI Gene:51025 No chr16 4390252 4401373 4340251 4351372 +PA164724339 25891 HGNC:24554 ENSG00000149090 peptidase domain containing associated with muscle regeneration 1 PAMR1 regeneration-associated muscle protease DKFZP586H2123, RAMP Yes No Ensembl:ENSG00000149090, GeneCard:PAMR1, HGNC:HGNC:24554, HumanCyc Gene:HS07582, NCBI Gene:25891, RefSeq DNA:NT_009237, RefSeq Protein:NP_001001991, RefSeq Protein:NP_056245, RefSeq RNA:NM_001001991, RefSeq RNA:NM_015430, UniProtKB:Q6UXH9 No chr11 35453374 35551848 35431827 35530300 +PA162398664 9924 HGNC:20074 ENSG00000135473 poly(A) specific ribonuclease subunit PAN2 PAN2 """PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"", ""PAN2 poly(A) specific ribonuclease subunit"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)""" KIAA0710, USP52, hPAN2 Yes No Ensembl:ENSG00000135473, GeneCard:PAN2, HGNC:HGNC:20074, HumanCyc Gene:HS06015, NCBI Gene:9924, RefSeq DNA:NT_029419, RefSeq Protein:NP_001120932, RefSeq Protein:NP_001159751, RefSeq Protein:NP_055686, RefSeq RNA:NM_001127460, RefSeq RNA:NM_001166279, RefSeq RNA:NM_014871, UniProtKB:Q504Q3 No chr12 56710007 56727837 56316223 56334053 +PA144596398 255967 HGNC:29991 ENSG00000152520 poly(A) specific ribonuclease subunit PAN3 PAN3 PAN3 poly(A) specific ribonuclease subunit, PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) Yes No Ensembl:ENSG00000152520, GeneCard:PAN3, HGNC:HGNC:29991, NCBI Gene:255967, RefSeq DNA:NT_024524, RefSeq Protein:NP_787050, RefSeq RNA:NM_175854, UniProtKB:B7Z3W7, UniProtKB:Q58A45 No chr13 28710997 28869475 28138079 28295338 +PA32928 53354 HGNC:8598 ENSG00000152782 pantothenate kinase 1 PANK1 MGC24596, PANK, PANK1a, PANK1b Yes No Comparative Toxicogenomics Database:53354, Ensembl:ENSG00000152782, GeneCard:PANK1, HGNC:HGNC:8598, HumanCyc Gene:HS07852, ModBase:Q8TE04, NCBI Gene:53354, OMIM:606160, RefSeq DNA:NT_030059, RefSeq Protein:NP_612189, RefSeq Protein:NP_683878, RefSeq Protein:NP_683879, RefSeq RNA:NM_138316, RefSeq RNA:NM_148977, RefSeq RNA:NM_148978, UCSC Genome Browser:NM_138316, UniProtKB:Q8TE04 No chr10 91339254 91405329 89579497 89645572 +PA38048 80025 HGNC:15894 ENSG00000125779 pantothenate kinase 2 PANK2 Hallervorden-Spatz syndrome, pantothenate kinase-associated neurodegeneration C20orf48, FLJ11729, HARP, HSS, NBIA1, PKAN Yes No Comparative Toxicogenomics Database:80025, Ensembl:ENSG00000125779, GenAtlas:PANK2, GeneCard:PANK2, HGNC:HGNC:15894, HumanCyc Gene:HS13177, ModBase:Q9BZ23, NCBI Gene:80025, OMIM:234200, OMIM:606157, OMIM:607236, RefSeq DNA:NG_008131, RefSeq DNA:NT_011387, RefSeq Protein:NP_079236, RefSeq Protein:NP_705902, RefSeq Protein:NP_705904, RefSeq RNA:NM_024960, RefSeq RNA:NM_153638, RefSeq RNA:NM_153640, UCSC Genome Browser:NM_024960, UniProtKB:Q6P1K9, UniProtKB:Q9BZ23 No chr20 3869486 3904538 3888839 3929882 +PA134903180 79646 HGNC:19365 ENSG00000120137 pantothenate kinase 3 PANK3 FLJ12899 Yes No Comparative Toxicogenomics Database:79646, Ensembl:ENSG00000120137, GeneCard:PANK3, HGNC:HGNC:19365, HumanCyc Gene:HS04372, ModBase:Q9H999, NCBI Gene:79646, OMIM:606161, RefSeq DNA:NT_023133, RefSeq Protein:NP_078870, RefSeq RNA:NM_024594, UniProtKB:Q9H999 No chr5 167982628 168006614 168555623 168579609 +PA134887214 55229 HGNC:19366 ENSG00000157881 pantothenate kinase 4 (inactive) PANK4 pantothenate kinase 4 FLJ10782 Yes No Ensembl:ENSG00000157881, GeneCard:PANK4, HGNC:HGNC:19366, HumanCyc Gene:HS08249, ModBase:Q9NVE7, NCBI Gene:55229, OMIM:606162, RefSeq DNA:NT_004350, RefSeq Protein:NP_060686, RefSeq RNA:NM_018216, UniProtKB:Q9NVE7 No chr1 2439975 2458061 2508531 2526628 +PA166123721 101927423 HGNC:51237 proapoptotic nucleolar protein 1 PANO1 PANO Yes No HGNC:HGNC:51237, NCBI Gene:101927423 No +PA32929 24145 HGNC:8599 ENSG00000110218 pannexin 1 PANX1 innexin MRS1, PX1, UNQ2529 Yes No Comparative Toxicogenomics Database:24145, Ensembl:ENSG00000110218, GenAtlas:PANX1, GeneCard:PANX1, HGNC:HGNC:8599, HumanCyc Gene:HS03295, NCBI Gene:24145, OMIM:608420, RefSeq DNA:NT_167190, RefSeq Protein:NP_056183, RefSeq RNA:NM_015368, UCSC Genome Browser:NM_015368, UniProtKB:Q96RD7 No chr11 93862094 93918762 94128928 94185596 +PA32930 56666 HGNC:8600 ENSG00000073150 pannexin 2 PANX2 PX2, hPANX2 Yes No Ensembl:ENSG00000073150, GenAtlas:PANX2, GeneCard:PANX2, HGNC:HGNC:8600, HumanCyc Gene:HS01098, ModBase:Q96RD6, NCBI Gene:56666, OMIM:608421, RefSeq DNA:NT_011526, RefSeq Protein:NP_001153772, RefSeq Protein:NP_443071, RefSeq RNA:NM_001160300, RefSeq RNA:NM_052839, RefSeq RNA:NR_027691, UCSC Genome Browser:NM_052839, UniProtKB:B3KTT7, UniProtKB:Q495U3, UniProtKB:Q96RD6 No chr22 50609160 50618724 50170731 50180295 +PA134920643 116337 HGNC:20573 ENSG00000154143 pannexin 3 PANX3 Px3 Yes No Ensembl:ENSG00000154143, GeneCard:PANX3, HGNC:HGNC:20573, HumanCyc Gene:HS07952, NCBI Gene:116337, OMIM:608422, RefSeq DNA:NT_033899, RefSeq Protein:NP_443191, RefSeq RNA:NM_052959, UniProtKB:Q96QZ0 No chr11 124481453 124490252 124611557 124620356 +PA134907695 196743 HGNC:20837 ENSG00000148832 polyamine oxidase PAOX polyamine oxidase (exo-N4-amino) PAO Yes No Comparative Toxicogenomics Database:196743, Ensembl:ENSG00000148832, GeneCard:PAOX, HGNC:HGNC:20837, HumanCyc Gene:HS07563, ModBase:Q6QHG3, NCBI Gene:196743, RefSeq DNA:NT_008818, RefSeq Protein:NP_690875, RefSeq Protein:NP_997010, RefSeq Protein:NP_997011, RefSeq RNA:NM_152911, RefSeq RNA:NM_207127, RefSeq RNA:NM_207128, UniProtKB:Q6QHF9 No chr10 135192741 135205198 133379237 133391696 +PA134914395 89932 HGNC:19262 ENSG00000100767 papilin, proteoglycan like sulfated glycoprotein PAPLN papilin, proteoglycan-like sulfated glycoprotein MGC50452 Yes Yes Comparative Toxicogenomics Database:89932, Ensembl:ENSG00000100767, GeneCard:PAPLN, HGNC:HGNC:19262, NCBI Gene:89932, RefSeq DNA:NT_026437, RefSeq Protein:NP_775733, RefSeq RNA:NM_173462, UniProtKB:B3KXI1, UniProtKB:O95428 No chr14 73704205 73741348 73235842 73274640 +PA32932 10914 HGNC:14981 ENSG00000090060 poly(A) polymerase alpha PAPOLA PAP Yes No Comparative Toxicogenomics Database:10914, Ensembl:ENSG00000090060, GenAtlas:PAPOLA, GeneCard:PAPOLA, HGNC:HGNC:14981, HumanCyc Gene:HS01674, ModBase:P51003, NCBI Gene:10914, OMIM:605553, RefSeq DNA:NT_026437, RefSeq Protein:NP_116021, RefSeq RNA:NM_032632, UCSC Genome Browser:NM_032632, UniProtKB:P51003 No chr14 96968713 97033453 96502376 96567116 +PA32933 56903 HGNC:15970 ENSG00000218823 poly(A) polymerase beta PAPOLB poly(A) polymerase beta (testis specific) PAPT Yes No Ensembl:ENSG00000218823, GenAtlas:PAPOLB, GeneCard:PAPOLB, HGNC:HGNC:15970, HumanCyc Gene:HS11975, ModBase:Q9NRJ5, NCBI Gene:56903, OMIM:607436, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_064529, RefSeq RNA:NM_020144, UCSC Genome Browser:NM_020144, UniProtKB:A4D1Z6, UniProtKB:Q9NRJ5 No chr7 4897369 4901625 4857738 4861994 +PA32934 64895 HGNC:14982 ENSG00000115421 poly(A) polymerase gamma PAPOLG FLJ12972 Yes No Ensembl:ENSG00000115421, GenAtlas:PAPOLG, GeneCard:PAPOLG, HGNC:HGNC:14982, HumanCyc Gene:HS03887, ModBase:Q9BWT3, NCBI Gene:64895, RefSeq DNA:NT_022184, RefSeq Protein:NP_075045, RefSeq RNA:NM_022894, UCSC Genome Browser:NM_022894, UniProtKB:Q9BWT3, UniProtKB:Q9H7W6 No chr2 60983365 61029221 60756230 60802086 +PA32935 5069 HGNC:8602 ENSG00000182752 pappalysin 1 PAPPA """aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"", ""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""pregnancy-associated plasma protein A, pappalysin 1""" ASBABP2, DIPLA1, IGFBP-4ase, PAPA, PAPP-A, PAPPA1 Yes Yes Comparative Toxicogenomics Database:5069, Ensembl:ENSG00000182752, GenAtlas:PAPPA, GeneCard:PAPPA, HGNC:HGNC:8602, HumanCyc Gene:HS04290, ModBase:Q13219, NCBI Gene:5069, OMIM:176385, RefSeq DNA:NT_008470, RefSeq Protein:NP_002572, RefSeq RNA:NM_002581, UCSC Genome Browser:NM_002581, UniProtKB:Q13219 No chr9 118916071 119164600 116153752 116402321 +PA33373 60676 HGNC:14615 ENSG00000116183 pappalysin 2 PAPPA2 PAPP-A2, PAPPE, PLAC3 Yes Yes Comparative Toxicogenomics Database:60676, Ensembl:ENSG00000116183, GenAtlas:PAPPA2, GeneCard:PAPPA2, HGNC:HGNC:14615, HumanCyc Gene:HS03993, ModBase:Q9BXP8, NCBI Gene:60676, RefSeq DNA:NG_023390, RefSeq DNA:NT_004487, RefSeq Protein:NP_064714, RefSeq Protein:NP_068755, RefSeq RNA:NM_020318, RefSeq RNA:NM_021936, UCSC Genome Browser:NM_020318, UniProtKB:A9Z1Y8, UniProtKB:Q9BXP8 No chr1 176432307 176814737 176463159 176845601 +PA384 9061 HGNC:8603 ENSG00000138801 3'-phosphoadenosine 5'-phosphosulfate synthase 1 PAPSS1 adenylyl-sulfate kinase, sulfate adenylyltransferase ATPSK1, PAPSS Yes No Comparative Toxicogenomics Database:9061, Ensembl:ENSG00000138801, GenAtlas:PAPSS1, GeneCard:PAPSS1, HGNC:HGNC:8603, HumanCyc Gene:HS06566, ModBase:O43252, NCBI Gene:9061, OMIM:603262, RefSeq DNA:NT_016354, RefSeq Protein:NP_005434, RefSeq RNA:NM_005443, UCSC Genome Browser:NM_005443, UniProtKB:O43252, UniProtKB:Q6IAX6 No chr4 108534822 108641419 107613666 107720263 +PA383 9060 HGNC:8604 ENSG00000198682 3'-phosphoadenosine 5'-phosphosulfate synthase 2 PAPSS2 PAPS synthase 2, adenosine 5'-phosphosulfate kinase, adenylyl-sulfate kinase, bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2, sulfate adenylyltransferase ATPSK2 Yes No Comparative Toxicogenomics Database:9060, Ensembl:ENSG00000198682, GenAtlas:PAPSS2, GeneCard:PAPSS2, HGNC:HGNC:8604, HumanCyc Gene:HS07544, ModBase:O95340, NCBI Gene:9060, OMIM:603005, OMIM:612847, RefSeq DNA:NG_012150, RefSeq DNA:NT_030059, RefSeq Protein:NP_001015880, RefSeq Protein:NP_004661, RefSeq RNA:NM_001015880, RefSeq RNA:NM_004670, UCSC Genome Browser:NM_004670, UniProtKB:O95340, UniProtKB:Q5TB52 No chr10 89419476 89507462 87659719 87747705 +PA134952039 152559 HGNC:30130 ENSG00000163291 progestin and adipoQ receptor family member 3 PAQR3 progestin and adipoQ receptor family member III Yes No Comparative Toxicogenomics Database:152559, Ensembl:ENSG00000163291, GeneCard:PAQR3, HGNC:HGNC:30130, ModBase:Q6TCH7, NCBI Gene:152559, RefSeq DNA:NT_016354, RefSeq Protein:NP_001035292, RefSeq RNA:NM_001040202, UniProtKB:Q6TCH7 No chr4 79836364 79860582 78887225 78939428 +PA134945614 124222 HGNC:26386 ENSG00000162073 progestin and adipoQ receptor family member 4 PAQR4 progestin and adipoQ receptor family member IV FLJ30002 Yes No Ensembl:ENSG00000162073, GeneCard:PAQR4, HGNC:HGNC:26386, HumanCyc Gene:HS08641, ModBase:Q8N4S7, NCBI Gene:124222, RefSeq DNA:NT_010393, RefSeq Protein:NP_689554, RefSeq RNA:NM_152341, UniProtKB:Q8N4S7 No chr16 3019342 3023485 2969245 2973489 +PA142671199 54852 HGNC:29645 ENSG00000137819 progestin and adipoQ receptor family member 5 PAQR5 membrane progestin receptor gamma, progestin and adipoQ receptor family member V FLJ20190, MPRG Yes No Comparative Toxicogenomics Database:54852, Ensembl:ENSG00000137819, GeneCard:PAQR5, HGNC:HGNC:29645, HumanCyc Gene:HS06403, ModBase:Q9NXK6, NCBI Gene:54852, OMIM:607781, RefSeq DNA:NT_010194, RefSeq Protein:NP_001098024, RefSeq Protein:NP_060175, RefSeq RNA:NM_001104554, RefSeq RNA:NM_017705, UniProtKB:Q9NXK6 No chr15 69591294 69699976 69284134 69407637 +PA134931897 79957 HGNC:30132 ENSG00000160781 progestin and adipoQ receptor family member 6 PAQR6 progestin and adipoQ receptor family member VI FLJ22672, PRdelta Yes No Comparative Toxicogenomics Database:79957, Ensembl:ENSG00000160781, GeneCard:PAQR6, HGNC:HGNC:30132, HumanCyc Gene:HS14827, ModBase:Q6TCH4, NCBI Gene:79957, RefSeq DNA:NT_004487, RefSeq Protein:NP_079173, RefSeq Protein:NP_940798, RefSeq RNA:NM_024897, RefSeq RNA:NM_198406, UniProtKB:Q5TCK7, UniProtKB:Q6TCH4 No chr1 156213112 156217908 156243321 156248488 +PA142671200 164091 HGNC:23146 ENSG00000182749 progestin and adipoQ receptor family member 7 PAQR7 membrane progestin receptor alpha, progestin and adipoQ receptor family member VII MPRA, PGLP, mSR Yes No Comparative Toxicogenomics Database:164091, Ensembl:ENSG00000182749, GeneCard:PAQR7, HGNC:HGNC:23146, ModBase:Q86WK9, NCBI Gene:164091, OMIM:607779, RefSeq DNA:NT_004610, RefSeq Protein:NP_848509, RefSeq RNA:NM_178422, UniProtKB:Q5XKF9, UniProtKB:Q86WK9 No chr1 26187975 26202461 25861484 25876707 +PA25934 85315 HGNC:15708 ENSG00000170915 progestin and adipoQ receptor family member 8 PAQR8 progestin and adipoQ receptor family member VIII C6orf33, LMPB1, MPRB Yes No Ensembl:ENSG00000170915, GenAtlas:PAQR8, GeneCard:PAQR8, HGNC:HGNC:15708, HumanCyc Gene:HS10206, ModBase:Q8TEZ7, NCBI Gene:85315, OMIM:607780, RefSeq DNA:NT_007592, RefSeq Protein:NP_588608, RefSeq RNA:NM_133367, UCSC Genome Browser:NM_133367, UniProtKB:B3KXW6, UniProtKB:Q8TEZ7 No chr6 52226926 52272575 52362128 52407777 +PA134880790 344838 HGNC:30131 ENSG00000188582 progestin and adipoQ receptor family member 9 PAQR9 brown fat long noncoding RNA, progestin and adipoQ receptor family member IX BLNC1, FLJ41938 Yes No Comparative Toxicogenomics Database:344838, Ensembl:ENSG00000188582, GeneCard:PAQR9, HGNC:HGNC:30131, ModBase:Q6ZVX9, NCBI Gene:344838, RefSeq DNA:NT_005612, RefSeq Protein:NP_940906, RefSeq RNA:NM_198504, UniProtKB:Q6ZVX9 No chr3 142680073 142682818 142961231 142963336 +PA32936 56288 HGNC:16051 ENSG00000148498 par-3 family cell polarity regulator PARD3 """atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""par-3 partitioning defective 3 homolog (C. elegans)"", ""protein phosphatase 1, regulatory subunit 118""" ASIP, Baz, Bazooka, PAR3, PARD3A, PPP1R118 Yes No Comparative Toxicogenomics Database:56288, Ensembl:ENSG00000148498, GenAtlas:PARD3, GeneCard:PARD3, HGNC:HGNC:16051, HumanCyc Gene:HS07534, ModBase:Q9BY58, NCBI Gene:56288, OMIM:606745, RefSeq DNA:NT_008705, RefSeq Protein:NP_001171714, RefSeq Protein:NP_001171715, RefSeq Protein:NP_001171716, RefSeq Protein:NP_001171717, RefSeq Protein:NP_001171718, RefSeq Protein:NP_001171719, RefSeq Protein:NP_001171720, RefSeq Protein:NP_001171721, RefSeq Protein:NP_001171722, RefSeq Protein:NP_001171723, RefSeq Protein:NP_062565, RefSeq RNA:NM_001184785, RefSeq RNA:NM_001184786, RefSeq RNA:NM_001184787, RefSeq RNA:NM_001184788, RefSeq RNA:NM_001184789, RefSeq RNA:NM_001184790, RefSeq RNA:NM_001184791, RefSeq RNA:NM_001184792, RefSeq RNA:NM_001184793, RefSeq RNA:NM_001184794, RefSeq RNA:NM_019619, UCSC Genome Browser:NM_019619, UniProtKB:Q8TEW0 No chr10 34398488 35104253 34109560 34815325 +PA162398721 117583 HGNC:14446 ENSG00000116117 par-3 family cell polarity regulator beta PARD3B par-3 partitioning defective 3 homolog B (C. elegans) ALS2CR19, PAR3beta, Par3L Yes Yes Ensembl:ENSG00000116117, GeneCard:PARD3B, HGNC:HGNC:14446, HumanCyc Gene:HS03981, ModBase:Q8TEW8, NCBI Gene:117583, RefSeq DNA:NT_005403, RefSeq Protein:NP_476518, RefSeq Protein:NP_689739, RefSeq Protein:NP_995585, RefSeq RNA:NM_057177, RefSeq RNA:NM_152526, RefSeq RNA:NM_205863, UniProtKB:Q8TEW8 No chr2 205410516 206484886 204545793 205620162 +PA32937 50855 HGNC:15943 ENSG00000102981 par-6 family cell polarity regulator alpha PARD6A par-6 partitioning defective 6 homolog alpha (C. elegans) PAR-6, PAR-6A, PAR6alpha, TAX40, TIP-40 Yes No Comparative Toxicogenomics Database:50855, Ensembl:ENSG00000102981, GenAtlas:PARD6A, GeneCard:PARD6A, HGNC:HGNC:15943, HumanCyc Gene:HS02438, ModBase:Q9NPB6, NCBI Gene:50855, OMIM:607484, RefSeq DNA:NT_010498, RefSeq Protein:NP_001032358, RefSeq Protein:NP_058644, RefSeq RNA:NM_001037281, RefSeq RNA:NM_016948, UCSC Genome Browser:NM_016948, UniProtKB:Q9NPB6 No chr16 67694851 67696681 67660948 67662778 +PA32938 84612 HGNC:16245 ENSG00000124171 par-6 family cell polarity regulator beta PARD6B par-6 partitioning defective 6 homolog beta (C. elegans) PAR-6B Yes No Ensembl:ENSG00000124171, GenAtlas:PARD6B, GeneCard:PARD6B, HGNC:HGNC:16245, HumanCyc Gene:HS04726, ModBase:Q9BYG5, NCBI Gene:84612, OMIM:608975, RefSeq DNA:NT_011362, RefSeq Protein:NP_115910, RefSeq RNA:NM_032521, UniProtKB:Q9BYG5 No chr20 49347923 49373333 50731544 50753741 +PA32939 84552 HGNC:16076 ENSG00000178184 par-6 family cell polarity regulator gamma PARD6G par-6 partitioning defective 6 homolog gamma (C. elegans) PAR-6G, PAR6gamma Yes No Ensembl:ENSG00000178184, GenAtlas:PARD6G, GeneCard:PARD6G, HGNC:HGNC:16076, HumanCyc Gene:HS11258, ModBase:Q9BYG4, NCBI Gene:84552, OMIM:608976, RefSeq DNA:NT_025028, RefSeq Protein:NP_115899, RefSeq RNA:NM_032510, UCSC Genome Browser:NM_032510, UniProtKB:Q9BYG4 No chr18 77915115 78005397 80157232 80247514 +PA32940 8505 HGNC:8605 ENSG00000227345 poly(ADP-ribose) glycohydrolase PARG poly (ADP-ribose) glycohydrolase Yes No Comparative Toxicogenomics Database:8505, Ensembl:ENSG00000227345, GenAtlas:PARG, GeneCard:PARG, HGNC:HGNC:8605, HumanCyc Gene:HS05225, ModBase:Q86W56, NCBI Gene:8505, OMIM:603501, RefSeq DNA:NT_030059, RefSeq Protein:NP_003622, RefSeq RNA:NM_003631, UCSC Genome Browser:NM_003631, UniProtKB:Q86W56 No chr10 51026325 51371346 49818275 49942027 +PA32941 170534 HGNC:17833 Parkinson disease 10 (susceptibility) PARK10 AAOPD Yes No Comparative Toxicogenomics Database:170534, GenAtlas:PARK10, GeneCard:PARK10, HGNC:HGNC:17833, NCBI Gene:170534, OMIM:168600, OMIM:606852 No chr1 +PA32946 11315 HGNC:16369 ENSG00000116288 Parkinsonism associated deglycase PARK7 parkinson protein 7 DJ-1, DJ1, GATD2 Yes No Comparative Toxicogenomics Database:11315, Ensembl:ENSG00000116288, GenAtlas:PARK7, GeneCard:PARK7, HGNC:HGNC:16369, HumanCyc Gene:HS04006, ModBase:Q99497, NCBI Gene:11315, OMIM:602533, OMIM:606324, RefSeq DNA:NG_008271, RefSeq DNA:NT_021937, RefSeq Protein:NP_001116849, RefSeq Protein:NP_009193, RefSeq RNA:NM_001123377, RefSeq RNA:NM_007262, UCSC Genome Browser:NM_007262, UniProtKB:Q99497 No chr1 8021714 8045342 7961654 7985282 +PA134939789 55486 HGNC:18253 ENSG00000175193 presenilin associated rhomboid like PARL """presenilin associated, rhomboid-like"", ""rhomboid 7 homolog 1 (Drosophila)""" PRO2207, PSARL, PSARL1, RHBDS1 Yes No Ensembl:ENSG00000175193, GeneCard:PARL, HGNC:HGNC:18253, HumanCyc Gene:HS16444, ModBase:Q9H300, NCBI Gene:55486, OMIM:607858, RefSeq DNA:NT_005612, RefSeq Protein:NP_001032728, RefSeq Protein:NP_061092, RefSeq RNA:NM_001037639, RefSeq RNA:NM_018622, UniProtKB:Q9H300 No chr3 183543522 183602693 183826488 183884908 +PA165664393 25849 HGNC:24536 ENSG00000169116 prostate androgen-regulated mucin-like protein 1 PARM1 """Castration-induced prostatic apoptosis-related protein 1"", ""Prostatic androgen-repressed message 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)""" Cipar1, DKFZP564O0823, WSC4 Yes No Ensembl:ENSG00000169116, GeneCard:PARM1, HGNC:HGNC:24536, HumanCyc Gene:HS15747, NCBI Gene:25849, RefSeq DNA:NT_016354, RefSeq Protein:NP_056208, RefSeq RNA:NM_015393, UniProtKB:Q6UWI2 No chr4 75858285 75975325 74933075 75050115 +PA32949 5073 HGNC:8609 ENSG00000140694 poly(A)-specific ribonuclease PARN deadenylation nuclease DAN Yes No Ensembl:ENSG00000140694, GenAtlas:PARN, GeneCard:PARN, HGNC:HGNC:8609, HumanCyc Gene:HS06752, ModBase:O95453, NCBI Gene:5073, OMIM:604212, RefSeq DNA:NT_010393, RefSeq Protein:NP_001127949, RefSeq Protein:NP_002573, RefSeq RNA:NM_001134477, RefSeq RNA:NM_002582, UCSC Genome Browser:NM_002582, UniProtKB:B4DDG8, UniProtKB:O95453 No chr16 14529557 14724128 14435700 14630277 +PA32 142 HGNC:270 ENSG00000143799 poly(ADP-ribose) polymerase 1 PARP1 poly (ADP-ribose) polymerase 1 ADPRT, ARTD1, PARP, PARS, PPOL, Poly-PARP Yes No Comparative Toxicogenomics Database:142, Ensembl:ENSG00000143799, GenAtlas:PARP1, GeneCard:PARP1, HGNC:HGNC:270, HumanCyc Gene:HS07107, ModBase:P09874, NCBI Gene:142, OMIM:173870, RefSeq DNA:NT_167186, RefSeq Protein:NP_001609, RefSeq RNA:NM_001618, UCSC Genome Browser:NM_001618, UniProtKB:P09874 No chr1 226548392 226595801 226360691 226408100 +PA134892853 84875 HGNC:25895 ENSG00000178685 poly(ADP-ribose) polymerase family member 10 PARP10 poly (ADP-ribose) polymerase family, member 10 ARTD10, FLJ14464 Yes No Comparative Toxicogenomics Database:84875, Ensembl:ENSG00000178685, GeneCard:PARP10, HGNC:HGNC:25895, HumanCyc Gene:HS17104, ModBase:Q53GL7, NCBI Gene:84875, OMIM:609564, RefSeq DNA:NT_008046, RefSeq Protein:NP_116178, RefSeq RNA:NM_032789, UniProtKB:Q53GL7 No chr8 145051320 145060635 143977152 143986471 +PA25507 57097 HGNC:1186 ENSG00000111224 poly(ADP-ribose) polymerase family member 11 PARP11 poly (ADP-ribose) polymerase family, member 11 ARTD11, C12orf6 Yes Yes Ensembl:ENSG00000111224, GenAtlas:PARP11, GeneCard:PARP11, HGNC:HGNC:1186, HumanCyc Gene:HS12735, ModBase:Q9NR21, NCBI Gene:57097, RefSeq DNA:NT_009759, RefSeq Protein:NP_065100, RefSeq RNA:NM_020367, UCSC Genome Browser:NM_020367, UniProtKB:Q9NR21 No chr12 3907410 3982608 3808861 3873448 +PA134953063 64761 HGNC:21919 ENSG00000059378 poly(ADP-ribose) polymerase family member 12 PARP12 poly (ADP-ribose) polymerase family, member 12 ARTD12, FLJ22693, PARP-12, ZC3H1, ZC3HDC1 Yes No Ensembl:ENSG00000059378, GeneCard:PARP12, HGNC:HGNC:21919, HumanCyc Gene:HS00729, ModBase:Q9H0J9, NCBI Gene:64761, OMIM:612481, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_073587, RefSeq RNA:NM_022750, UniProtKB:A4D1T0, UniProtKB:Q9H0J9 No chr7 139723544 139764086 140023744 140063721 +PA134861585 54625 HGNC:29232 ENSG00000173193 poly(ADP-ribose) polymerase family member 14 PARP14 poly (ADP-ribose) polymerase family, member 14 ARTD8, BAL2, KIAA1268, pART8 Yes Yes Ensembl:ENSG00000173193, GeneCard:PARP14, HGNC:HGNC:29232, NCBI Gene:54625, OMIM:610028, RefSeq DNA:NT_005612, RefSeq Protein:NP_060024, RefSeq RNA:NM_017554, UniProtKB:C9J8I1, UniProtKB:Q460N5, UniProtKB:Q8N546 No chr3 122399672 122449687 122680726 122730840 +PA134905094 165631 HGNC:26876 ENSG00000173200 poly(ADP-ribose) polymerase family member 15 PARP15 poly (ADP-ribose) polymerase family, member 15 ARTD7, BAL3, FLJ40597, pART7 Yes No Ensembl:ENSG00000173200, GeneCard:PARP15, HGNC:HGNC:26876, HumanCyc Gene:HS16181, ModBase:Q460N3, NCBI Gene:165631, OMIM:612066, RefSeq DNA:NT_005612, RefSeq Protein:NP_001106995, RefSeq Protein:NP_689828, RefSeq RNA:NM_001113523, RefSeq RNA:NM_152615, UniProtKB:Q460N3 No chr3 122296435 122357894 122575914 122639047 +PA134984504 54956 HGNC:26040 ENSG00000138617 poly(ADP-ribose) polymerase family member 16 PARP16 poly (ADP-ribose) polymerase family, member 16 ARTD15, C15orf30, FLJ20509, FLJ25281, pART15 Yes No Comparative Toxicogenomics Database:54956, Ensembl:ENSG00000138617, GeneCard:PARP16, HGNC:HGNC:26040, HumanCyc Gene:HS13734, ModBase:Q8N5Y8, NCBI Gene:54956, RefSeq DNA:NT_010194, RefSeq Protein:NP_060321, RefSeq RNA:NM_017851, UniProtKB:Q8N5Y8 No chr15 65550436 65579212 65231691 65286886 +PA24595 144 HGNC:275 ENSG00000227105 poly (ADP-ribose) polymerase family, member 1 pseudogene 1 PARP1P1 Yes No Ensembl:ENSG00000227105, GenAtlas:PARP1P1, GeneCard:PARP1P1, HGNC:HGNC:275, NCBI Gene:144, RefSeq DNA:NG_002655, RefSeq DNA:NT_009952 No chr13 111588971 111592579 110936624 110940232 +PA24596 145 HGNC:276 ENSG00000258995 poly (ADP-ribose) polymerase family, member 1 pseudogene 2 PARP1P2 Yes No Ensembl:ENSG00000258995, GenAtlas:PARP1P2, GeneCard:PARP1P2, HGNC:HGNC:276, NCBI Gene:145, RefSeq DNA:NG_002656, RefSeq DNA:NT_026437 No chr14 63589719 63590653 63123001 63123935 +PA24592 10038 HGNC:272 ENSG00000129484 poly(ADP-ribose) polymerase 2 PARP2 poly (ADP-ribose) polymerase 2 ADPRTL2, ARTD2 Yes No Ensembl:ENSG00000129484, GenAtlas:PARP2, GeneCard:PARP2, HGNC:HGNC:272, HumanCyc Gene:HS05285, ModBase:Q9UGN5, NCBI Gene:10038, OMIM:607725, RefSeq DNA:NT_026437, RefSeq Protein:NP_001036083, RefSeq Protein:NP_005475, RefSeq RNA:NM_001042618, RefSeq RNA:NM_005484, UCSC Genome Browser:NM_005484, UniProtKB:Q9UGN5 No chr14 20811773 20826063 20343041 20357904 +PA24593 10039 HGNC:273 ENSG00000041880 poly(ADP-ribose) polymerase family member 3 PARP3 """NAD+ ADP-ribosyltransferase 3"", ""poly (ADP-ribose) polymerase family, member 3"", ""poly(ADP-ribose) polymerase 3"", ""poly(ADP-ribose) synthetase-3""" ADPRT3, ADPRTL3, ARTD3, IRT1, hPARP-3, pADPRT-3 Yes No Comparative Toxicogenomics Database:10039, Ensembl:ENSG00000041880, GenAtlas:PARP3, GeneCard:PARP3, HGNC:HGNC:273, HumanCyc Gene:HS00555, ModBase:Q9Y6F1, NCBI Gene:10039, OMIM:607726, RefSeq DNA:NT_022517, RefSeq Protein:NP_001003931, RefSeq Protein:NP_005476, RefSeq RNA:NM_001003931, RefSeq RNA:NM_005485, UCSC Genome Browser:NM_005485, UniProtKB:Q9Y6F1 No chr3 51976297 51982883 51942282 51948867 +PA24591 143 HGNC:271 ENSG00000102699 poly(ADP-ribose) polymerase family member 4 PARP4 """poly (ADP-ribose) polymerase family, member 4"", ""vault poly(ADP-ribose) polymerase"", ""von Willebrand factor A domain containing 5C""" ADPRTL1, ARTD4, VAULT3, VPARP, VWA5C, p193 Yes No Ensembl:ENSG00000102699, GenAtlas:PARP4, GeneCard:PARP4, HGNC:HGNC:271, HumanCyc Gene:HS02404, ModBase:Q9UKK3, NCBI Gene:143, OMIM:607519, RefSeq DNA:NT_024524, RefSeq Protein:NP_006428, RefSeq RNA:NM_006437, UCSC Genome Browser:NM_006437, UniProtKB:Q5QNZ9, UniProtKB:Q9UKK3 No chr13 24995069 25086948 24420930 24512993 +PA38562 347613 HGNC:18500 ENSG00000237917 poly (ADP-ribose) polymerase family, member 4 pseudogene 1 PARP4P1 poly (ADP-ribose) polymerase family, member 4 pseudogene, Y-linked 1 PARP4PY1 Yes No Ensembl:ENSG00000237917, GenAtlas:PARP4P, GeneCard:PARP4P1, HGNC:HGNC:18500, NCBI Gene:347613, RefSeq DNA:NG_002802, RefSeq DNA:NT_011903 No chrY 28740815 28780802 26594668 26634655 +PA24594 23783 HGNC:274 ENSG00000249263 poly (ADP-ribose) polymerase family, member 4 pseudogene 3 PARP4P3 Yes No Ensembl:ENSG00000249263, GenAtlas:ADPRTL4, GeneCard:ANKRD62P1-PARP4P3, HGNC:HGNC:274, NCBI Gene:23783, RefSeq DNA:NG_002623, RefSeq DNA:NT_011519, RefSeq RNA:NR_040115 No chr22 17134598 17156430 16653708 16675540 +PA134900863 56965 HGNC:26921 ENSG00000137817 poly(ADP-ribose) polymerase family member 6 PARP6 poly (ADP-ribose) polymerase family, member 6 ARTD17, pART17 Yes No Ensembl:ENSG00000137817, GeneCard:PARP6, HGNC:HGNC:26921, HumanCyc Gene:HS13697, ModBase:Q2NL67, NCBI Gene:56965, RefSeq DNA:NT_010194, RefSeq Protein:NP_064599, RefSeq RNA:NM_020214, UniProtKB:Q2NL67 No chr15 72533522 72564885 72241181 72272575 +PA134903201 79668 HGNC:26124 ENSG00000151883 poly(ADP-ribose) polymerase family member 8 PARP8 poly (ADP-ribose) polymerase family, member 8 ARTD16, FLJ21308, pART16 Yes No Comparative Toxicogenomics Database:79668, Ensembl:ENSG00000151883, GeneCard:PARP8, HGNC:HGNC:26124, HumanCyc Gene:HS14395, ModBase:Q8N3A8, NCBI Gene:79668, RefSeq DNA:NT_006713, RefSeq Protein:NP_001171526, RefSeq Protein:NP_001171527, RefSeq Protein:NP_078891, RefSeq RNA:NM_001178055, RefSeq RNA:NM_001178056, RefSeq RNA:NM_024615, UniProtKB:B2RB27, UniProtKB:Q5T2N8, UniProtKB:Q8N3A8 No chr5 49961733 50142356 50665899 50846522 +PA134870403 83666 HGNC:24118 ENSG00000138496 poly(ADP-ribose) polymerase family member 9 PARP9 poly (ADP-ribose) polymerase family, member 9 ARTD9, BAL, BAL1 Yes No Comparative Toxicogenomics Database:83666, Ensembl:ENSG00000138496, GeneCard:PARP9, HGNC:HGNC:24118, HumanCyc Gene:HS13730, ModBase:Q8IXQ6, NCBI Gene:83666, OMIM:612065, RefSeq DNA:NT_005612, RefSeq Protein:NP_001139574, RefSeq Protein:NP_001139575, RefSeq Protein:NP_001139576, RefSeq Protein:NP_001139577, RefSeq Protein:NP_001139578, RefSeq Protein:NP_113646, RefSeq RNA:NM_001146102, RefSeq RNA:NM_001146103, RefSeq RNA:NM_001146104, RefSeq RNA:NM_001146105, RefSeq RNA:NM_001146106, RefSeq RNA:NM_031458, UniProtKB:B2R8S9, UniProtKB:Q59ER9, UniProtKB:Q8IXQ6 No chr3 122246757 122283523 122527910 122564676 +PA143485378 55010 HGNC:26074 ENSG00000185480 PARP1 binding protein PARPBP PARP-1 binding protein C12orf48, FLJ20641, PARI Yes No Ensembl:ENSG00000185480, GeneCard:C12orf48, HGNC:HGNC:26074, NCBI Gene:55010, RefSeq DNA:NT_029419, RefSeq Protein:NP_060385, RefSeq RNA:NM_017915, UniProtKB:Q9NWS1 No chr12 102513956 102591298 102120171 102197520 +PA142671198 25973 HGNC:30563 ENSG00000162396 prolyl-tRNA synthetase 2, mitochondrial PARS2 """proline tRNA ligase 2, mitochondrial (putative)"", ""prolyl-tRNA synthetase 2, mitochondrial (putative)""" DKFZp727A071 Yes No Ensembl:ENSG00000162396, GeneCard:PARS2, HGNC:HGNC:30563, HumanCyc Gene:HS08668, ModBase:Q7L3T8, NCBI Gene:25973, OMIM:612036, RefSeq DNA:NT_032977, RefSeq Protein:NP_689481, RefSeq RNA:NM_152268, UniProtKB:Q7L3T8 No chr1 55222571 55230226 54756898 54764553 +PA165660422 25859 HGNC:17263 ENSG00000152931 prostate androgen-regulated transcript 1 (non-protein coding) PART1 non-protein coding RNA 206 DKFZP586D0823, NCRNA00206 Yes No Ensembl:ENSG00000152931, GeneCard:PART1, HGNC:HGNC:17263, NCBI Gene:25859, OMIM:604991, RefSeq DNA:NT_006713, RefSeq RNA:NR_024617, RefSeq RNA:NR_028508, RefSeq RNA:NR_028509 No chr5 59783540 59843484 60487713 60547657 +PA32950 55742 HGNC:14652 ENSG00000197702 parvin alpha PARVA """actopaxin"", ""parvin, alpha""" FLJ10793, FLJ12254, MXRA2 Yes No Comparative Toxicogenomics Database:55742, Ensembl:ENSG00000197702, GenAtlas:PARVA, GeneCard:PARVA, HGNC:HGNC:14652, ModBase:Q9NVD7, NCBI Gene:55742, OMIM:608120, RefSeq DNA:NT_009237, RefSeq Protein:NP_060692, RefSeq RNA:NM_018222, UCSC Genome Browser:NM_018222, UniProtKB:Q9NVD7 No chr11 12397988 12556903 12376441 12535356 +PA32951 29780 HGNC:14653 ENSG00000188677 parvin beta PARVB """affixin"", ""parvin, beta""" CGI-56 Yes No Comparative Toxicogenomics Database:29780, Ensembl:ENSG00000188677, GenAtlas:PARVB, GeneCard:PARVB, HGNC:HGNC:14653, ModBase:Q9Y3L7, NCBI Gene:29780, OMIM:608121, RefSeq DNA:NT_011520, RefSeq Protein:NP_001003828, RefSeq Protein:NP_037459, RefSeq RNA:NM_001003828, RefSeq RNA:NM_013327, UCSC Genome Browser:NM_013327, UniProtKB:B0QYN1, UniProtKB:Q96PN1, UniProtKB:Q9HBI1 No chr22 44395091 44565113 43999211 44169233 +PA32952 64098 HGNC:14654 ENSG00000138964 parvin gamma PARVG parvin, gamma Yes No Ensembl:ENSG00000138964, GenAtlas:PARVG, GeneCard:PARVG, HGNC:HGNC:14654, HumanCyc Gene:HS06575, ModBase:Q9HBI0, NCBI Gene:64098, OMIM:608122, RefSeq DNA:NT_011520, RefSeq Protein:NP_001131077, RefSeq Protein:NP_001131078, RefSeq Protein:NP_071424, RefSeq RNA:NM_001137605, RefSeq RNA:NM_001137606, RefSeq RNA:NM_022141, RefSeq RNA:NR_024426, RefSeq RNA:NR_024427, RefSeq RNA:NR_024428, UCSC Genome Browser:NM_022141, UniProtKB:Q9HBI0 No chr22 44566271 44604349 44170228 44208469 +PA134909788 139135 HGNC:20686 ENSG00000166049 PAS domain containing repressor 1 PASD1 PAS domain containing 1, cancer/testis antigen 63 CT63 Yes No Ensembl:ENSG00000166049, GeneCard:PASD1, HGNC:HGNC:20686, HumanCyc Gene:HS09324, ModBase:Q8IV76, NCBI Gene:139135, RefSeq DNA:NG_021218, RefSeq DNA:NT_167198, RefSeq Protein:NP_775764, RefSeq RNA:NM_173493, UniProtKB:Q8IV76 No chrX 150732007 150845211 151563535 151676739 +PA32953 23178 HGNC:17270 ENSG00000115687 PAS domain containing serine/threonine kinase PASK KIAA0135, PASKIN, STK37 Yes No Comparative Toxicogenomics Database:23178, Ensembl:ENSG00000115687, GenAtlas:PASK, GeneCard:PASK, HGNC:HGNC:17270, HumanCyc Gene:HS03928, ModBase:Q96RG2, NCBI Gene:23178, OMIM:607505, RefSeq DNA:NT_005416, RefSeq Protein:NP_055963, RefSeq RNA:NM_015148, UCSC Genome Browser:NM_015148, UniProtKB:Q05BE4, UniProtKB:Q96RG2 No chr2 242045514 242089394 241106099 241150347 +PA164724368 160065 HGNC:24664 ENSG00000171053 prostate and testis expressed 1 PATE1 expressed in prostate and testis PATE Yes No Ensembl:ENSG00000171053, GeneCard:PATE1, HGNC:HGNC:24664, HumanCyc Gene:HS10234, NCBI Gene:160065, OMIM:606861, RefSeq DNA:NT_033899, RefSeq Protein:NP_612151, RefSeq RNA:NM_138294, UniProtKB:Q8WXA2 No chr11 125616180 125619743 125746293 125749848 +PA164724383 399967 HGNC:32249 ENSG00000196844 prostate and testis expressed 2 PATE2 C11orf38, LVLF3112, PATE-M, UNQ3112 Yes No Ensembl:ENSG00000196844, GeneCard:PATE2, HGNC:HGNC:32249, NCBI Gene:399967, RefSeq DNA:NT_033899, RefSeq Protein:NP_997720, RefSeq RNA:NM_212555, UniProtKB:Q6UY27 No chr11 125646025 125648714 125776130 125778819 +PA164724396 100169851 HGNC:35426 ENSG00000236027 prostate and testis expressed 3 PATE3 HEL-127, PATE-DJ Yes No Ensembl:ENSG00000236027, GeneCard:PATE3, HGNC:HGNC:35426, NCBI Gene:100169851, RefSeq DNA:NT_033899, RefSeq Protein:NP_001123355, RefSeq RNA:NM_001129883, UniProtKB:B3GLJ2 No chr11 125658006 125661495 125785996 125791600 +PA164724397 399968 HGNC:35427 ENSG00000237353 prostate and testis expressed 4 PATE4 FLJ41047, PATE-B Yes No Ensembl:ENSG00000237353, GeneCard:PATE4, HGNC:HGNC:35427, NCBI Gene:399968, RefSeq DNA:NT_033899, RefSeq Protein:NP_001138346, RefSeq RNA:NM_001144874 No chr11 125703211 125709967 125833316 125840072 +PA134919267 10207 HGNC:28881 ENSG00000132849 PATJ crumbs cell polarity complex component PATJ """InaD-like (Drosophila)"", ""PATJ, crumbs cell polarity complex component"", ""Pals1-associated tight junction"", ""inactivation-no-afterpotential D-like""" Cipp, INADL, PATJ Yes No Comparative Toxicogenomics Database:10207, Ensembl:ENSG00000132849, GeneCard:INADL, HGNC:HGNC:28881, HumanCyc Gene:HS05699, ModBase:Q5VUA9, NCBI Gene:10207, OMIM:603199, RefSeq DNA:NT_032977, RefSeq Protein:NP_795352, RefSeq RNA:NM_176877, UniProtKB:Q8NI35 No chr1 62208149 62629592 61742477 62163920 +PA162398769 219988 HGNC:26721 ENSG00000166889 PAT1 homolog 1, processing body mRNA decay factor PATL1 protein associated with topoisomerase II homolog 1 (yeast) FLJ36874, Pat1b Yes No Ensembl:ENSG00000166889, GeneCard:PATL1, HGNC:HGNC:26721, HumanCyc Gene:HS15498, NCBI Gene:219988, RefSeq DNA:NT_167190, RefSeq Protein:NP_689929, RefSeq RNA:NM_152716, UniProtKB:Q86TB9 No chr11 59404189 59436513 59636716 59669040 +PA164724408 197135 HGNC:33630 ENSG00000229474 PAT1 homolog 2 PATL2 protein associated with topoisomerase II homolog 2 (yeast) Pat1a Yes No Ensembl:ENSG00000229474, GeneCard:PATL2, HGNC:HGNC:33630, NCBI Gene:197135, RefSeq DNA:NT_010194, RefSeq Protein:NP_001138584, RefSeq RNA:NM_001145112, UniProtKB:C9JE40 No chr15 44957930 44970894 44665732 44711389 +PA162398806 23598 HGNC:13071 ENSG00000100105 POZ/BTB and AT hook containing zinc finger 1 PATZ1 POZ (BTB) and AT hook containing zinc finger 1 MAZR, PATZ, RIAZ, ZBTB19, ZNF278, ZSG, dJ400N23 Yes No Ensembl:ENSG00000100105, GeneCard:PATZ1, HGNC:HGNC:13071, HumanCyc Gene:HS01977, ModBase:Q9HBE1, NCBI Gene:23598, OMIM:605165, RefSeq DNA:NT_011520, RefSeq Protein:NP_055138, RefSeq Protein:NP_114439, RefSeq Protein:NP_114440, RefSeq Protein:NP_114441, RefSeq RNA:NM_014323, RefSeq RNA:NM_032050, RefSeq RNA:NM_032051, RefSeq RNA:NM_032052, UniProtKB:Q9HBE1 No chr22 31721790 31742249 31325804 31346263 +PA32954 5074 HGNC:8614 ENSG00000177425 pro-apoptotic WT1 regulator PAWR """PRKC, apoptosis, WT1, regulator"", ""prostate apoptosis response-4""" PAR4, par-4 Yes No Comparative Toxicogenomics Database:5074, Ensembl:ENSG00000177425, GenAtlas:PAWR, GeneCard:PAWR, HGNC:HGNC:8614, HumanCyc Gene:HS11165, ModBase:Q96IZ0, NCBI Gene:5074, OMIM:601936, RefSeq DNA:NT_029419, RefSeq Protein:NP_002574, RefSeq RNA:NM_002583, UCSC Genome Browser:NM_002583, UniProtKB:Q96IZ0 No chr12 79985745 80084877 79587791 79691097 +PA32955 5075 HGNC:8615 ENSG00000125813 paired box 1 PAX1 Yes No Comparative Toxicogenomics Database:5075, Ensembl:ENSG00000125813, GenAtlas:PAX1, GeneCard:PAX1, HGNC:HGNC:8615, HumanCyc Gene:HS04937, ModBase:P15863, NCBI Gene:5075, OMIM:167411, RefSeq DNA:NT_011387, RefSeq Protein:NP_006183, RefSeq RNA:NM_006192, UCSC Genome Browser:NM_006192, UniProtKB:P15863 No chr20 21686297 21699124 21705659 21718486 +PA32956 5076 HGNC:8616 ENSG00000075891 paired box 2 PAX2 PAX-2 Yes No Comparative Toxicogenomics Database:5076, Ensembl:ENSG00000075891, GenAtlas:PAX2, GeneCard:PAX2, HGNC:HGNC:8616, HumanCyc Gene:HS01192, ModBase:Q02962, NCBI Gene:5076, OMIM:120330, OMIM:167409, RefSeq DNA:NG_008680, RefSeq DNA:NT_030059, RefSeq Protein:NP_000269, RefSeq Protein:NP_003978, RefSeq Protein:NP_003979, RefSeq Protein:NP_003980, RefSeq Protein:NP_003981, RefSeq RNA:NM_000278, RefSeq RNA:NM_003987, RefSeq RNA:NM_003988, RefSeq RNA:NM_003989, RefSeq RNA:NM_003990, UCSC Genome Browser:NM_000278, UniProtKB:Q02962 No chr10 102495316 102589698 100732940 100829941 +PA32957 5077 HGNC:8617 ENSG00000135903 paired box 3 PAX3 HUP2, PAX-3, WS1 Yes No Comparative Toxicogenomics Database:5077, Ensembl:ENSG00000135903, GenAtlas:PAX3, GeneCard:PAX3, HGNC:HGNC:8617, HumanCyc Gene:HS06079, ModBase:P23760, NCBI Gene:5077, OMIM:122880, OMIM:148820, OMIM:193500, OMIM:268220, OMIM:606597, RefSeq DNA:NG_011632, RefSeq DNA:NT_005403, RefSeq Protein:NP_000429, RefSeq Protein:NP_001120838, RefSeq Protein:NP_039230, RefSeq Protein:NP_852122, RefSeq Protein:NP_852123, RefSeq Protein:NP_852124, RefSeq Protein:NP_852125, RefSeq Protein:NP_852126, RefSeq RNA:NM_000438, RefSeq RNA:NM_001127366, RefSeq RNA:NM_013942, RefSeq RNA:NM_181457, RefSeq RNA:NM_181458, RefSeq RNA:NM_181459, RefSeq RNA:NM_181460, RefSeq RNA:NM_181461, UCSC Genome Browser:NM_000438, UniProtKB:P23760, UniProtKB:Q12777, UniProtKB:Q494Z3, UniProtKB:Q494Z4, UniProtKB:Q86UQ2, UniProtKB:Q86UQ3 No chr2 223064606 223163715 222199887 222298996 +PA32958 5078 HGNC:8618 ENSG00000106331 paired box 4 PAX4 Paired box protein Pax-4 MODY9 Yes Yes Ensembl:ENSG00000106331, GenAtlas:PAX4, GeneCard:PAX4, HGNC:HGNC:8618, HumanCyc Gene:HS02890, ModBase:O43316, NCBI Gene:5078, OMIM:125853, OMIM:167413, OMIM:612225, OMIM:612227, RefSeq DNA:NG_012848, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_006184, RefSeq RNA:NM_006193, UCSC Genome Browser:NM_006193, UniProtKB:O43316 No chr7 127250346 127255982 127610292 127618192 +PA32959 5079 HGNC:8619 ENSG00000196092 paired box 5 PAX5 B-cell lineage specific activator BSAP, PAX-5 Yes No Comparative Toxicogenomics Database:5079, Ensembl:ENSG00000196092, GenAtlas:PAX5, GeneCard:PAX5, HGNC:HGNC:8619, ModBase:Q02548, NCBI Gene:5079, OMIM:167414, RefSeq DNA:NT_008413, RefSeq Protein:NP_057953, RefSeq RNA:NM_016734, UCSC Genome Browser:NM_016734, UniProtKB:A9Z1W5, UniProtKB:Q02548 No chr9 36833272 37034476 36833274 37035949 +PA32960 5080 HGNC:8620 ENSG00000007372 paired box 6 PAX6 """Aniridia 1"", ""Aniridia 2"", ""aniridia, keratitis""" AN, AN1, AN2, D11S812E, WAGR Yes No Comparative Toxicogenomics Database:5080, Ensembl:ENSG00000007372, GenAtlas:PAX6, GeneCard:PAX6, HGNC:HGNC:8620, HumanCyc Gene:HS00214, ModBase:P26367, NCBI Gene:5080, OMIM:106210, OMIM:120200, OMIM:120430, OMIM:129750, OMIM:136520, OMIM:148190, OMIM:165550, OMIM:206700, OMIM:604219, OMIM:604229, OMIM:607108, RefSeq DNA:NG_008679, RefSeq DNA:NT_009237, RefSeq Protein:NP_000271, RefSeq Protein:NP_001121084, RefSeq Protein:NP_001595, RefSeq RNA:NM_000280, RefSeq RNA:NM_001127612, RefSeq RNA:NM_001604, UCSC Genome Browser:NM_000280, UniProtKB:P26367, UniProtKB:Q66SS1 No chr11 31806340 31839509 31784792 31817961 +PA32961 5081 HGNC:8621 ENSG00000009709 paired box 7 PAX7 Hup1 Yes No Comparative Toxicogenomics Database:5081, Ensembl:ENSG00000009709, GenAtlas:PAX7, GeneCard:PAX7, HGNC:HGNC:8621, HumanCyc Gene:HS00264, ModBase:P23759, NCBI Gene:5081, OMIM:167410, OMIM:268220, RefSeq DNA:NG_023262, RefSeq DNA:NT_004610, RefSeq Protein:NP_001128726, RefSeq Protein:NP_002575, RefSeq Protein:NP_039236, RefSeq RNA:NM_001135254, RefSeq RNA:NM_002584, RefSeq RNA:NM_013945, UCSC Genome Browser:NM_002584, UniProtKB:P23759, UniProtKB:Q2PJS5 No chr1 18957500 19075360 18631006 18748866 +PA32962 7849 HGNC:8622 ENSG00000125618 paired box 8 PAX8 PAX-8 Yes No Comparative Toxicogenomics Database:7849, Ensembl:ENSG00000125618, GenAtlas:PAX8, GeneCard:PAX8, HGNC:HGNC:8622, HumanCyc Gene:HS04906, ModBase:Q06710, NCBI Gene:7849, OMIM:167415, OMIM:218700, RefSeq DNA:NG_012384, RefSeq DNA:NT_022135, RefSeq Protein:NP_003457, RefSeq Protein:NP_039245, RefSeq Protein:NP_039246, RefSeq Protein:NP_039247, RefSeq Protein:NP_054698, RefSeq RNA:NM_003466, RefSeq RNA:NM_013951, RefSeq RNA:NM_013952, RefSeq RNA:NM_013953, RefSeq RNA:NM_013992, UCSC Genome Browser:NM_003466, UniProtKB:A8MSW8, UniProtKB:Q06710 No chr2 113973574 114036527 113215997 113278950 +PA32963 5083 HGNC:8623 ENSG00000198807 paired box 9 PAX9 Yes No Comparative Toxicogenomics Database:5083, Ensembl:ENSG00000198807, GenAtlas:PAX9, GeneCard:PAX9, HGNC:HGNC:8623, ModBase:P55771, NCBI Gene:5083, OMIM:106600, OMIM:167416, OMIM:604625, RefSeq DNA:NG_013357, RefSeq DNA:NT_026437, RefSeq Protein:NP_006185, RefSeq RNA:NM_006194, UCSC Genome Browser:NM_006194, UniProtKB:P55771, UniProtKB:Q2L4T1 No chr14 37126773 37147012 36657568 36677807 +PA25861 94104 HGNC:13579 ENSG00000159086 PAX3 and PAX7 binding protein 1 PAXBP1 GC-rich sequence DNA-binding factor candidate, functional spliceosome-associated protein 105 C21orf66, GCFC, GCFC1, fSAP105 Yes No Ensembl:ENSG00000159086, GenAtlas:C21orf66, GeneCard:C21orf66, GeneCard:GCFC1, HGNC:HGNC:13579, HumanCyc Gene:HS08355, ModBase:Q9Y5B6, NCBI Gene:94104, RefSeq DNA:NT_011512, RefSeq Protein:NP_037461, RefSeq Protein:NP_057715, RefSeq Protein:NP_478071, RefSeq RNA:NM_013329, RefSeq RNA:NM_016631, RefSeq RNA:NM_058191, RefSeq RNA:NM_145328, RefSeq RNA:NR_027873, UCSC Genome Browser:NM_013329, UniProtKB:Q8N6E6, UniProtKB:Q9Y5B6 No chr21 34106210 34144169 32733899 32771858 +PA32964 22976 HGNC:8624 ENSG00000157212 PAX interacting protein 1 PAXIP1 PAX interacting (with transcription-activation domain) protein 1 CAGF28, CAGF29, PAXIP1L, PTIP, TNRC2 Yes No Comparative Toxicogenomics Database:22976, Ensembl:ENSG00000157212, GenAtlas:PAXIP1, GeneCard:PAXIP1, HGNC:HGNC:8624, HumanCyc Gene:HS08190, ModBase:Q6ZW49, NCBI Gene:22976, OMIM:104300, OMIM:608254, RefSeq DNA:NG_023293, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_031375, RefSeq RNA:NM_007349, UCSC Genome Browser:NM_007349, UniProtKB:Q6ZW49 No chr7 154735400 154794682 154943690 155003393 +PA143485344 286257 HGNC:27849 ENSG00000148362 PAXX non-homologous end joining factor PAXX """PAXX, non-homologous end joining factor"", ""XRCC4-like small protein"", ""chromosome 9 open reading frame 142"", ""paralog of XRCC4 and XLF""" C9orf142, XLS Yes No Ensembl:ENSG00000148362, GeneCard:C9orf142, HGNC:HGNC:27849, ModBase:Q9BUH6, NCBI Gene:286257, RefSeq DNA:NT_024000, RefSeq Protein:NP_899064, RefSeq RNA:NM_183241, UniProtKB:Q9BUH6 No chr9 139886870 139888428 136992418 136993976 +PA128394657 51260 HGNC:28790 ENSG00000102390 polysaccharide biosynthesis domain containing 1 PBDC1 CXorf26, MGC874 Yes No Ensembl:ENSG00000102390, GeneCard:CXorf26, HGNC:HGNC:28790, HumanCyc Gene:HS12483, ModBase:Q9BVG4, NCBI Gene:51260, RefSeq DNA:NT_011669, RefSeq Protein:NP_057584, RefSeq RNA:NM_016500, UCSC Genome Browser:NM_016500, UniProtKB:Q9BVG4 No chrX 75392771 75398033 76172929 76178310 +PA134925802 55872 HGNC:18282 ENSG00000168078 PDZ binding kinase PBK T-LAK cell-originated protein kinase, cancer/testis antigen 84 CT84, FLJ14385, Nori-3, SPK, TOPK Yes No Comparative Toxicogenomics Database:55872, Ensembl:ENSG00000168078, GeneCard:PBK, HGNC:HGNC:18282, HumanCyc Gene:HS09691, ModBase:Q96KB5, NCBI Gene:55872, OMIM:611210, RefSeq DNA:NT_167187, RefSeq Protein:NP_060962, RefSeq RNA:NM_018492, UniProtKB:Q96KB5 No chr8 27667138 27695612 27809621 27838095 +PA162398821 64081 HGNC:23301 ENSG00000108187 phenazine biosynthesis like protein domain containing PBLD MAWD binding protein, phenazine biosynthesis-like protein domain containing FLJ14767, MAWBP, MAWDBP Yes No Ensembl:ENSG00000108187, GeneCard:PBLD, HGNC:HGNC:23301, HumanCyc Gene:HS03070, ModBase:P30039, NCBI Gene:64081, OMIM:612189, RefSeq DNA:NT_030059, RefSeq Protein:NP_001028255, RefSeq Protein:NP_071412, RefSeq RNA:NM_001033083, RefSeq RNA:NM_022129, UniProtKB:C9JIM0, UniProtKB:P30039 No chr10 70042417 70096115 68282660 68332958 +PA134869958 59351 HGNC:21079 ENSG00000254440 prostate and breast cancer overexpressed 1 PBOV1 UC28, UROC28 Yes No Ensembl:ENSG00000254440, GeneCard:PBOV1, HGNC:HGNC:21079, NCBI Gene:59351, OMIM:605669, RefSeq DNA:NT_025741, RefSeq Protein:NP_067648, RefSeq RNA:NM_021635, UniProtKB:Q9GZY1 No chr6 138537123 138539627 138215986 138218490 +PA162398846 55193 HGNC:30064 ENSG00000163939 polybromo 1 PBRM1 BAF180, PB1, SMARCH1 Yes No Ensembl:ENSG00000163939, GeneCard:PBRM1, HGNC:HGNC:30064, HumanCyc Gene:HS08971, ModBase:Q9H2T4, NCBI Gene:55193, OMIM:606083, RefSeq DNA:NT_022517, RefSeq Protein:NP_060635, RefSeq Protein:NP_060783, RefSeq Protein:NP_851385, RefSeq RNA:NM_018165, RefSeq RNA:NM_018313, RefSeq RNA:NM_181042, UniProtKB:Q86U86 No chr3 52579368 52719866 52545352 52685933 +PA32970 5087 HGNC:8632 ENSG00000185630 PBX homeobox 1 PBX1 pre-B-cell leukemia homeobox 1 Yes No Comparative Toxicogenomics Database:5087, Ensembl:ENSG00000185630, GenAtlas:PBX1, GeneCard:PBX1, HGNC:HGNC:8632, HumanCyc Gene:HS09506, ModBase:P40424, NCBI Gene:5087, OMIM:176310, RefSeq DNA:NT_004487, RefSeq Protein:NP_001191890, RefSeq Protein:NP_001191892, RefSeq Protein:NP_002576, RefSeq RNA:NM_001204961, RefSeq RNA:NM_001204963, RefSeq RNA:NM_002585, UCSC Genome Browser:NM_002585, UniProtKB:A8K5V0, UniProtKB:P40424, UniProtKB:Q68DD6 No chr1 164528597 164821067 164559360 164886047 +PA32971 5089 HGNC:8633 ENSG00000204304, ENSG00000206315, ENSG00000224952, ENSG00000225987, ENSG00000232005, ENSG00000236353, ENSG00000237344 PBX homeobox 2 PBX2 pre-B-cell leukemia homeobox 2 G17, HOX12, PBX2MHC Yes No Comparative Toxicogenomics Database:5089, Ensembl:ENSG00000204304, Ensembl:ENSG00000206315, Ensembl:ENSG00000224952, Ensembl:ENSG00000225987, Ensembl:ENSG00000232005, Ensembl:ENSG00000236353, Ensembl:ENSG00000237344, GenAtlas:PBX2, GeneCard:PBX2, HGNC:HGNC:8633, HumanCyc Gene:HS03504, ModBase:P40425, NCBI Gene:5089, OMIM:176311, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002577, RefSeq RNA:NM_002586, UCSC Genome Browser:NM_002586, UniProtKB:P40425 No chr6 32152510 32157963 32184733 32190186 +PA32974 5088 HGNC:8635 ENSG00000244171 pre-B-cell leukemia homeobox 2 pseudogene 1 PBX2P1 Yes No Ensembl:ENSG00000244171, GenAtlas:PBXP1, GeneCard:PBX2P1, HGNC:HGNC:8635, NCBI Gene:5088, RefSeq DNA:NG_002434, RefSeq DNA:NT_005612 No chr3 142894904 142898095 143176062 143179253 +PA32972 5090 HGNC:8634 ENSG00000167081 PBX homeobox 3 PBX3 pre-B-cell leukemia homeobox 3 Yes No Comparative Toxicogenomics Database:5090, Ensembl:ENSG00000167081, GenAtlas:PBX3, GeneCard:PBX3, HGNC:HGNC:8634, ModBase:P40426, NCBI Gene:5090, OMIM:176312, RefSeq DNA:NT_008470, RefSeq Protein:NP_001128250, RefSeq Protein:NP_006186, RefSeq RNA:NM_001134778, RefSeq RNA:NM_006195, RefSeq RNA:NR_024122, RefSeq RNA:NR_024123, UCSC Genome Browser:NM_006195, UniProtKB:P40426, UniProtKB:Q96AL5 No chr9 128509617 128729656 125747338 125967377 +PA32973 80714 HGNC:13403 ENSG00000105717 PBX homeobox 4 PBX4 pre-B-cell leukemia homeobox 4 Yes No Ensembl:ENSG00000105717, GenAtlas:PBX4, GeneCard:PBX4, HGNC:HGNC:13403, HumanCyc Gene:HS02804, ModBase:Q9BYU1, NCBI Gene:80714, OMIM:608127, RefSeq DNA:NT_011295, RefSeq Protein:NP_079521, RefSeq RNA:NM_025245, RefSeq RNA:NR_038198, UCSC Genome Browser:NM_025245, UniProtKB:Q9BYU1 No chr19 19672516 19729725 19561707 19618916 +PA134956095 57326 HGNC:21199 ENSG00000163346 PBX homeobox interacting protein 1 PBXIP1 pre-B-cell leukemia homeobox interacting protein 1 HPIP Yes No Comparative Toxicogenomics Database:57326, Ensembl:ENSG00000163346, GeneCard:PBXIP1, HGNC:HGNC:21199, HumanCyc Gene:HS08831, ModBase:Q96AQ6, NCBI Gene:57326, RefSeq DNA:NT_004487, RefSeq Protein:NP_065385, RefSeq RNA:NM_020524, UniProtKB:Q96AQ6 No chr1 154916553 154928624 154944080 154956163 +PA32975 5091 HGNC:8636 ENSG00000173599 pyruvate carboxylase PC PCB Yes No Comparative Toxicogenomics Database:5091, Ensembl:ENSG00000173599, GenAtlas:PC, GeneCard:PC, HGNC:HGNC:8636, HumanCyc Gene:HS10697, ModBase:P11498, NCBI Gene:5091, OMIM:266150, OMIM:608786, RefSeq DNA:NG_008319, RefSeq DNA:NT_167190, RefSeq Protein:NP_000911, RefSeq Protein:NP_001035806, RefSeq Protein:NP_071504, RefSeq RNA:NM_000920, RefSeq RNA:NM_001040716, RefSeq RNA:NM_022172, UCSC Genome Browser:NM_000920, UniProtKB:P11498 No chr11 66615993 66725847 66848522 66958418 +PA32976 50652 HGNC:8637 ENSG00000225937 prostate cancer antigen 3 (non-protein coding) PCA3 non-protein coding RNA 19 DD3, NCRNA00019 Yes No Ensembl:ENSG00000225937, GenAtlas:PCA3, GeneCard:PCA3, HGNC:HGNC:8637, NCBI Gene:50652, OMIM:604845, RefSeq DNA:NT_008470, RefSeq RNA:NR_015342 No chr9 79379354 79402838 76764436 76787569 +PA162379508 388939 HGNC:34383 ENSG00000179270 photoreceptor cilium actin regulator PCARE chromosome 2 open reading frame 71 C2orf71, FLJ34931, RP54 Yes No Ensembl:ENSG00000179270, GeneCard:C2orf71, HGNC:HGNC:34383, ModBase:A6NGG8, NCBI Gene:388939, OMIM:268000, OMIM:613425, OMIM:613428, RefSeq DNA:NG_021427, RefSeq DNA:NT_022184, RefSeq Protein:NP_001025054, RefSeq RNA:NM_001029883, UniProtKB:A6NGG8 No chr2 29284556 29297127 29061690 29074261 +PA32985 5092 HGNC:8646 ENSG00000166228 pterin-4 alpha-carbinolamine dehydratase 1 PCBD1 Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha), dimerizing cofactor for HNF1, pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha, pterin-4-alpha carbinolamine dehydratase DCOH, PCBD, PCD Yes No Comparative Toxicogenomics Database:5092, Ensembl:ENSG00000166228, GenAtlas:PCBD1, GeneCard:PCBD1, HGNC:HGNC:8646, HumanCyc Gene:HS09360, ModBase:P61457, NCBI Gene:5092, OMIM:126090, OMIM:264070, RefSeq DNA:NG_008646, RefSeq DNA:NT_030059, RefSeq Protein:NP_000272, RefSeq RNA:NM_000281, UCSC Genome Browser:NM_000281, UniProtKB:P61457 No chr10 72642037 72648541 70882280 70888786 +PA142671197 84105 HGNC:24474 ENSG00000132570 pterin-4 alpha-carbinolamine dehydratase 2 PCBD2 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 DCOH2, DCOHM Yes No Comparative Toxicogenomics Database:84105, Ensembl:ENSG00000132570, GeneCard:PCBD2, HGNC:HGNC:24474, HumanCyc Gene:HS13433, ModBase:Q9H0N5, NCBI Gene:84105, OMIM:609836, RefSeq DNA:NT_034772, RefSeq Protein:NP_115527, RefSeq RNA:NM_032151, UniProtKB:Q9H0N5 No chr5 134240810 134298336 134905120 134962646 +PA32986 5093 HGNC:8647 ENSG00000169564 poly(rC) binding protein 1 PCBP1 heterogeneous nuclear ribonucleoprotein E1 HNRPE1, HNRPX, hnRNP-E1, hnRNP-X Yes No Comparative Toxicogenomics Database:5093, Ensembl:ENSG00000169564, GenAtlas:PCBP1, GeneCard:PCBP1, HGNC:HGNC:8647, HumanCyc Gene:HS09968, ModBase:Q15365, NCBI Gene:5093, OMIM:601209, RefSeq DNA:NT_022184, RefSeq Protein:NP_006187, RefSeq RNA:NM_006196, UCSC Genome Browser:NM_006196, UniProtKB:Q15365, UniProtKB:Q53SS8 No chr2 70313972 70316335 70087453 70089203 +PA32987 5094 HGNC:8648 ENSG00000197111 poly(rC) binding protein 2 PCBP2 heterogenous nuclear ribonucleoprotein E2 HNRNPE2, HNRPE2, hnRNP-E2 Yes No Comparative Toxicogenomics Database:5094, Ensembl:ENSG00000197111, GenAtlas:PCBP2, GeneCard:PCBP2, HGNC:HGNC:8648, ModBase:Q15366, NCBI Gene:5094, OMIM:601210, RefSeq DNA:NT_029419, RefSeq Protein:NP_001092090, RefSeq Protein:NP_001122383, RefSeq Protein:NP_001122384, RefSeq Protein:NP_001122385, RefSeq Protein:NP_001122386, RefSeq Protein:NP_005007, RefSeq Protein:NP_114366, RefSeq RNA:NM_001098620, RefSeq RNA:NM_001128911, RefSeq RNA:NM_001128912, RefSeq RNA:NM_001128913, RefSeq RNA:NM_001128914, RefSeq RNA:NM_005016, RefSeq RNA:NM_031989, UCSC Genome Browser:NM_005016, UniProtKB:A8K7X6, UniProtKB:Q15366, UniProtKB:Q32Q82, UniProtKB:Q59HD4, UniProtKB:Q68Y55, UniProtKB:Q6IPF4 No chr12 53845886 53874946 53452102 53481162 +PA32988 54040 HGNC:8649 ENSG00000235701 poly(rC) binding protein 2 pseudogene 1 PCBP2P1 Yes No Ensembl:ENSG00000235701, GenAtlas:PCBP2P1, GeneCard:PCBP2P1, HGNC:HGNC:8649, NCBI Gene:54040, RefSeq DNA:NG_000916, RefSeq DNA:NT_011512 No chr21 +PA32989 286157 HGNC:8650 ENSG00000253341 poly(rC) binding protein 2 pseudogene 2 PCBP2P2 Yes No Ensembl:ENSG00000253341, GenAtlas:PCBP2P2, GeneCard:PCBP2P2, HGNC:HGNC:8650, NCBI Gene:286157, RefSeq DNA:NG_008071, RefSeq DNA:NT_008183 No chr8 75515112 75516763 74602877 74604528 +PA32990 54039 HGNC:8651 ENSG00000183570 poly(rC) binding protein 3 PCBP3 FLJ44028, PCBP3-OT1, PCBP3OT Yes No Comparative Toxicogenomics Database:54039, Ensembl:ENSG00000183570, GenAtlas:PCBP3, GeneCard:PCBP3, HGNC:HGNC:8651, ModBase:P57721, NCBI Gene:54039, OMIM:608502, RefSeq DNA:NT_011515, RefSeq Protein:NP_001123613, RefSeq Protein:NP_065389, RefSeq RNA:NM_001130141, RefSeq RNA:NM_020528, UCSC Genome Browser:NM_020528, UniProtKB:P57721 No chr21 47268023 47362368 45849961 45942454 +PA32991 57060 HGNC:8652 ENSG00000090097 poly(rC) binding protein 4 PCBP4 LYST-interacting protein, RNA binding protein MCG10, alphaCP-4 protein LIP4, MCG10 Yes No Comparative Toxicogenomics Database:57060, Ensembl:ENSG00000090097, GenAtlas:PCBP4, GeneCard:PCBP4, HGNC:HGNC:8652, HumanCyc Gene:HS01676, ModBase:P57723, NCBI Gene:57060, OMIM:608503, RefSeq DNA:NT_022517, RefSeq Protein:NP_001167571, RefSeq Protein:NP_065151, RefSeq Protein:NP_127501, RefSeq Protein:NP_127502, RefSeq Protein:NP_127503, RefSeq RNA:NM_001174100, RefSeq RNA:NM_020418, RefSeq RNA:NM_033008, RefSeq RNA:NM_033009, RefSeq RNA:NM_033010, UCSC Genome Browser:NM_020418, UniProtKB:P57723 No chr3 51991470 52001482 51957454 51967466 +PA32992 5095 HGNC:8653 ENSG00000175198 propionyl-CoA carboxylase subunit alpha PCCA propionyl CoA carboxylase, alpha polypeptide Yes No Comparative Toxicogenomics Database:5095, Ensembl:ENSG00000175198, GenAtlas:PCCA, GeneCard:PCCA, HGNC:HGNC:8653, HumanCyc Gene:HS10893, ModBase:P05165, NCBI Gene:5095, OMIM:232000, OMIM:606054, RefSeq DNA:NG_008768, RefSeq DNA:NT_009952, RefSeq Protein:NP_000273, RefSeq Protein:NP_001121164, RefSeq Protein:NP_001171475, RefSeq RNA:NM_000282, RefSeq RNA:NM_001127692, RefSeq RNA:NM_001178004, UCSC Genome Browser:NM_000282, UniProtKB:B4DPF9, UniProtKB:P05165, UniProtKB:Q8WXQ7 No chr13 100741269 101182691 100089015 100530437 +PA32993 5096 HGNC:8654 ENSG00000114054 propionyl-CoA carboxylase subunit beta PCCB propionyl CoA carboxylase, beta polypeptide Yes No Comparative Toxicogenomics Database:5096, Ensembl:ENSG00000114054, GenAtlas:PCCB, GeneCard:PCCB, HGNC:HGNC:8654, HumanCyc Gene:HS03736, ModBase:P05166, NCBI Gene:5096, OMIM:232050, OMIM:606054, RefSeq DNA:NG_008939, RefSeq DNA:NT_005612, RefSeq Protein:NP_000523, RefSeq Protein:NP_001171485, RefSeq RNA:NM_000532, RefSeq RNA:NM_001178014, UCSC Genome Browser:NM_000532, UniProtKB:B7Z2Z4, UniProtKB:P05166 No chr3 135969167 136056737 136250325 136330171 +PA32994 5097 HGNC:8655 ENSG00000156453 protocadherin 1 PCDH1 pc42 Yes No Ensembl:ENSG00000156453, GenAtlas:PCDH1, GeneCard:PCDH1, HGNC:HGNC:8655, HumanCyc Gene:HS08127, ModBase:Q08174, NCBI Gene:5097, OMIM:603626, RefSeq DNA:NT_029289, RefSeq Protein:NP_002578, RefSeq Protein:NP_115796, RefSeq RNA:NM_002587, RefSeq RNA:NM_032420, UCSC Genome Browser:NM_002587, UniProtKB:B3KQM8, UniProtKB:Q08174 No chr5 141232655 141258361 141852319 141878410 +PA32995 57575 HGNC:13404 ENSG00000138650 protocadherin 10 PCDH10 KIAA1400, OL-PCDH Yes No Comparative Toxicogenomics Database:57575, Ensembl:ENSG00000138650, GenAtlas:PCDH10, GeneCard:PCDH10, HGNC:HGNC:13404, HumanCyc Gene:HS06526, ModBase:Q9P2E7, NCBI Gene:57575, OMIM:608286, RefSeq DNA:NT_016354, RefSeq Protein:NP_065866, RefSeq Protein:NP_116586, RefSeq RNA:NM_020815, RefSeq RNA:NM_032961, UCSC Genome Browser:NM_020815, UniProtKB:Q96SF0, UniProtKB:Q9NSR3, UniProtKB:Q9P2E7 No chr4 134070470 134112732 133149290 133208606 +PA32996 27328 HGNC:8656 ENSG00000102290 protocadherin 11 X-linked PCDH11X protein phosphatase 1, regulatory subunit 119 PCDH-X, PCDH11, PCDHX, PPP1R119 Yes No Ensembl:ENSG00000102290, GenAtlas:PCDH11X, GeneCard:PCDH11X, HGNC:HGNC:8656, HumanCyc Gene:HS02379, ModBase:Q96RW0, NCBI Gene:27328, OMIM:300246, RefSeq DNA:NG_016251, RefSeq DNA:NT_011651, RefSeq Protein:NP_001161832, RefSeq Protein:NP_001161833, RefSeq Protein:NP_001161834, RefSeq Protein:NP_001161835, RefSeq Protein:NP_055337, RefSeq Protein:NP_116749, RefSeq Protein:NP_116750, RefSeq Protein:NP_116751, RefSeq RNA:NM_001168360, RefSeq RNA:NM_001168361, RefSeq RNA:NM_001168362, RefSeq RNA:NM_001168363, RefSeq RNA:NM_014522, RefSeq RNA:NM_032967, RefSeq RNA:NM_032968, RefSeq RNA:NM_032969, UCSC Genome Browser:NM_014522, UniProtKB:Q9BZA7 No chrX 91034260 91878229 91779310 92623230 +PA32997 83259 HGNC:15813 ENSG00000099715 protocadherin 11 Y-linked PCDH11Y PCDH22, PCDHY Yes No Comparative Toxicogenomics Database:83259, Ensembl:ENSG00000099715, GenAtlas:PCDH11Y, GeneCard:PCDH11Y, HGNC:HGNC:15813, HumanCyc Gene:HS01902, ModBase:Q70LS5, NCBI Gene:83259, OMIM:400022, RefSeq DNA:NG_011652, RefSeq DNA:NT_011896, RefSeq Protein:NP_116753, RefSeq Protein:NP_116754, RefSeq Protein:NP_116755, RefSeq RNA:NM_032971, RefSeq RNA:NM_032972, RefSeq RNA:NM_032973, UCSC Genome Browser:NM_032971, UniProtKB:Q9BZA8 No chrY 4868267 5610269 5000044 5742228 +PA32998 51294 HGNC:8657 ENSG00000113555 protocadherin 12 PCDH12 VE-cadherin-2 Yes No Ensembl:ENSG00000113555, GenAtlas:PCDH12, GeneCard:PCDH12, HGNC:HGNC:8657, HumanCyc Gene:HS03693, ModBase:Q9NPG4, NCBI Gene:51294, OMIM:605622, RefSeq DNA:NT_029289, RefSeq Protein:NP_057664, RefSeq RNA:NM_016580, UCSC Genome Browser:NM_016580, UniProtKB:Q9NPG4 No chr5 141323150 141338627 141943585 141959062 +PA32999 65217 HGNC:14674 ENSG00000150275 protocadherin related 15 PCDH15 cadherin-related family member 15, protocadherin-related 15 CDHR15, DFNB23, USH1F Yes No Comparative Toxicogenomics Database:65217, Ensembl:ENSG00000150275, GenAtlas:PCDH15, GeneCard:PCDH15, HGNC:HGNC:14674, HumanCyc Gene:HS07662, ModBase:Q96QU1, NCBI Gene:65217, OMIM:601067, OMIM:602083, OMIM:605514, OMIM:609533, RefSeq DNA:NG_009191, RefSeq DNA:NT_030059, RefSeq Protein:NP_001136235, RefSeq Protein:NP_001136236, RefSeq Protein:NP_001136237, RefSeq Protein:NP_001136238, RefSeq Protein:NP_001136239, RefSeq Protein:NP_001136240, RefSeq Protein:NP_001136241, RefSeq Protein:NP_001136242, RefSeq Protein:NP_001136243, RefSeq Protein:NP_001136244, RefSeq Protein:NP_001136245, RefSeq Protein:NP_149045, RefSeq RNA:NM_001142763, RefSeq RNA:NM_001142764, RefSeq RNA:NM_001142765, RefSeq RNA:NM_001142766, RefSeq RNA:NM_001142767, RefSeq RNA:NM_001142768, RefSeq RNA:NM_001142769, RefSeq RNA:NM_001142770, RefSeq RNA:NM_001142771, RefSeq RNA:NM_001142772, RefSeq RNA:NM_001142773, RefSeq RNA:NM_033056, UCSC Genome Browser:NM_033056, UniProtKB:A2A3E3, UniProtKB:A2A3E6, UniProtKB:A2A3E7, UniProtKB:A2A3E8, UniProtKB:Q96QU1 No chr10 55562531 56561051 53802771 55629182 +PA33001 27253 HGNC:14267 ENSG00000118946 protocadherin 17 PCDH17 PCDH68, PCH68 Yes No Comparative Toxicogenomics Database:27253, Ensembl:ENSG00000118946, GenAtlas:PCDH17, GeneCard:PCDH17, HGNC:HGNC:14267, HumanCyc Gene:HS04262, ModBase:O14917, NCBI Gene:27253, OMIM:611760, RefSeq DNA:NT_024524, RefSeq Protein:NP_001035519, RefSeq RNA:NM_001040429, UCSC Genome Browser:NM_014459, UniProtKB:O14917 No chr13 58204238 58303445 57630104 57728931 +PA33002 54510 HGNC:14268 ENSG00000189184 protocadherin 18 PCDH18 KIAA1562, PCDH68L Yes No Comparative Toxicogenomics Database:54510, Ensembl:ENSG00000189184, GenAtlas:PCDH18, GeneCard:PCDH18, HGNC:HGNC:14268, ModBase:Q9HCL0, NCBI Gene:54510, OMIM:608287, RefSeq DNA:NT_016354, RefSeq Protein:NP_061908, RefSeq RNA:NM_019035, UCSC Genome Browser:NM_019035, UniProtKB:Q9HCL0 No chr4 138440072 138453629 137518918 137532530 +PA33003 57526 HGNC:14270 ENSG00000165194 protocadherin 19 PCDH19 EFMR, EIEE9, KIAA1313 Yes No Comparative Toxicogenomics Database:57526, Ensembl:ENSG00000165194, GenAtlas:PCDH19, GeneCard:PCDH19, HGNC:HGNC:14270, NCBI Gene:57526, OMIM:300088, OMIM:300460, RefSeq DNA:NG_021319, RefSeq DNA:NT_011651, RefSeq Protein:NP_001098713, RefSeq Protein:NP_001171809, RefSeq Protein:NP_065817, RefSeq RNA:NM_001105243, RefSeq RNA:NM_001184880, RefSeq RNA:NM_020766, UniProtKB:B3KU71, UniProtKB:Q8TAB3 No chrX 99546642 99665271 100291644 100410273 +PA33004 64881 HGNC:14257 ENSG00000280165 protocadherin 20 PCDH20 FLJ22218, PCDH13 Yes No Ensembl:ENSG00000280165, GenAtlas:PCDH20, GeneCard:PCDH20, HGNC:HGNC:14257, ModBase:Q8N6Y1, NCBI Gene:64881, RefSeq DNA:NT_024524, RefSeq Protein:NP_073754, RefSeq RNA:NM_022843, UCSC Genome Browser:NM_022843, UniProtKB:A8K1K9, UniProtKB:B3KSZ7, UniProtKB:Q8N6Y1 No chr13 61983818 61989655 61408963 61427266 +PA33006 5099 HGNC:8659 ENSG00000169851 protocadherin 7 PCDH7 protein phosphatase 1, regulatory subunit 120 BH-Pcdh, PPP1R120 Yes No Comparative Toxicogenomics Database:5099, Ensembl:ENSG00000169851, GenAtlas:PCDH7, GeneCard:PCDH7, HGNC:HGNC:8659, HumanCyc Gene:HS10016, ModBase:O60245, NCBI Gene:5099, OMIM:602988, RefSeq DNA:NT_006316, RefSeq Protein:NP_001166994, RefSeq Protein:NP_002580, RefSeq Protein:NP_115832, RefSeq Protein:NP_115833, RefSeq RNA:NM_001173523, RefSeq RNA:NM_002589, RefSeq RNA:NM_032456, RefSeq RNA:NM_032457, UCSC Genome Browser:NM_002589, UniProtKB:O60245 No chr4 30721951 31148423 30720378 31146801 +PA33007 5100 HGNC:8660 ENSG00000136099 protocadherin 8 PCDH8 ARCADLIN, PAPC Yes No Ensembl:ENSG00000136099, GenAtlas:PCDH8, GeneCard:PCDH8, HGNC:HGNC:8660, HumanCyc Gene:HS06112, ModBase:O95206, NCBI Gene:5100, OMIM:603580, RefSeq DNA:NT_024524, RefSeq Protein:NP_002581, RefSeq Protein:NP_116567, RefSeq RNA:NM_002590, RefSeq RNA:NM_032949, UCSC Genome Browser:NM_002590, UniProtKB:O95206 No chr13 53418109 53422775 52843974 52848640 +PA33008 5101 HGNC:8661 ENSG00000184226 protocadherin 9 PCDH9 Yes No Comparative Toxicogenomics Database:5101, Ensembl:ENSG00000184226, GenAtlas:PCDH9, GeneCard:PCDH9, HGNC:HGNC:8661, ModBase:Q9HC56, NCBI Gene:5101, OMIM:603581, RefSeq DNA:NG_011876, RefSeq DNA:NT_024524, RefSeq Protein:NP_065136, RefSeq Protein:NP_982354, RefSeq RNA:NM_020403, RefSeq RNA:NM_203487, UCSC Genome Browser:NM_020403, UniProtKB:Q9HC56 No chr13 66876966 67804468 66302834 67230336 +PA35501 56117 HGNC:8662 protocadherin alpha cluster, complex locus PCDHA@ CNR1, CNRS1 Yes No GenAtlas:PCDHA@, GeneCard:PCDHA@, HGNC:HGNC:8662, NCBI Gene:56117, OMIM:604966, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289 No chr5 140165876 140391929 140786136 141012344 +PA33009 56147 HGNC:8663 ENSG00000204970 protocadherin alpha 1 PCDHA1 KIAA0345-like 13 Yes No Ensembl:ENSG00000204970, GenAtlas:PCDHA1, GeneCard:PCDHA1, HGNC:HGNC:8663, ModBase:Q9Y5I3, NCBI Gene:56147, OMIM:606307, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061723, RefSeq Protein:NP_113598, RefSeq Protein:NP_113599, RefSeq RNA:NM_018900, RefSeq RNA:NM_031410, RefSeq RNA:NM_031411, UCSC Genome Browser:NM_018900, UniProtKB:Q9Y5I3 No chr5 140165876 140391929 140786136 141012344 +PA33010 56139 HGNC:8664 ENSG00000250120 protocadherin alpha 10 PCDHA10 KIAA0345-like 4, ortholog to mouse CNR8 CNR8, CNRN8, CRNR8, PCDH-ALPHA10 Yes No Ensembl:ENSG00000250120, GenAtlas:PCDHA10, GeneCard:PCDHA10, HGNC:HGNC:8664, ModBase:Q9Y5I2, NCBI Gene:56139, OMIM:606316, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061724, RefSeq Protein:NP_114065, RefSeq Protein:NP_114066, RefSeq RNA:NM_018901, RefSeq RNA:NM_031859, RefSeq RNA:NM_031860, UCSC Genome Browser:NM_018901, UniProtKB:Q9Y5I2 No chr5 140235634 140391929 140855883 141012344 +PA33011 56138 HGNC:8665 ENSG00000249158 protocadherin alpha 11 PCDHA11 KIAA0345-like 3, ortholog of mouse CNR7 CNR7, CNRN7, CRNR7, PCDH-ALPHA11 Yes No Comparative Toxicogenomics Database:56138, Ensembl:ENSG00000249158, GenAtlas:PCDHA11, GeneCard:PCDHA11, HGNC:HGNC:8665, ModBase:Q9Y5I1, NCBI Gene:56138, OMIM:606317, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061725, RefSeq Protein:NP_114067, RefSeq RNA:NM_018902, RefSeq RNA:NM_031861, UCSC Genome Browser:NM_018902, UniProtKB:Q9Y5I1 No chr5 140247149 140391932 140867513 141012344 +PA33012 56137 HGNC:8666 ENSG00000251664 protocadherin alpha 12 PCDHA12 KIAA0345-like 2 PCDH-ALPHA12 Yes No Ensembl:ENSG00000251664, GenAtlas:PCDHA12, GeneCard:PCDHA12, HGNC:HGNC:8666, ModBase:Q9UN75, NCBI Gene:56137, OMIM:606318, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061726, RefSeq Protein:NP_114070, RefSeq RNA:NM_018903, RefSeq RNA:NM_031864, UCSC Genome Browser:NM_018903, UniProtKB:Q9UN75 No chr5 140254931 140391929 140875302 141012344 +PA33013 56136 HGNC:8667 ENSG00000239389 protocadherin alpha 13 PCDHA13 KIAA0345-like 1, ortholog of mouse CNR5 CNR5, CNRN5, CRNR5, PCDH-ALPHA13 Yes No Ensembl:ENSG00000239389, GenAtlas:PCDHA13, GeneCard:PCDHA13, HGNC:HGNC:8667, ModBase:Q9Y5I0, NCBI Gene:56136, OMIM:606319, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061727, RefSeq Protein:NP_114071, RefSeq RNA:NM_018904, RefSeq RNA:NM_031865, UCSC Genome Browser:NM_018904, UniProtKB:Q9Y5I0 No chr5 140261854 140391929 140882269 141012344 +PA35040 26307 HGNC:2163 ENSG00000249504 protocadherin alpha 14 pseudogene PCDHA14 CNR3, CRNR3, PCDH-PSI4 Yes No Ensembl:ENSG00000249504, GenAtlas:PCDHA14, GeneCard:PCDHA14, HGNC:HGNC:2163, NCBI Gene:26307, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289 No chr5 140240773 140243135 140861188 140863550 +PA33014 56146 HGNC:8668 ENSG00000204969 protocadherin alpha 2 PCDHA2 KIAA0345-like 12 Yes No Comparative Toxicogenomics Database:56146, Ensembl:ENSG00000204969, GenAtlas:PCDHA2, GeneCard:PCDHA2, HGNC:HGNC:8668, ModBase:Q9Y5H9, NCBI Gene:56146, OMIM:606308, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061728, RefSeq Protein:NP_113683, RefSeq RNA:NM_018905, RefSeq RNA:NM_031495, UCSC Genome Browser:NM_018905, UniProtKB:Q9Y5H9 No chr5 140174444 140391929 140794859 141012344 +PA33015 56145 HGNC:8669 ENSG00000255408 protocadherin alpha 3 PCDHA3 KIAA0345-like 11 PCDH-ALPHA3 Yes No Ensembl:ENSG00000255408, GenAtlas:PCDHA3, GeneCard:PCDHA3, HGNC:HGNC:8669, ModBase:Q9Y5H8, NCBI Gene:56145, OMIM:606309, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061729, RefSeq Protein:NP_113685, RefSeq RNA:NM_018906, RefSeq RNA:NM_031497, UCSC Genome Browser:NM_018906, UniProtKB:Q9Y5H8 No chr5 140180783 140391929 140801198 141012344 +PA33016 56144 HGNC:8670 ENSG00000204967 protocadherin alpha 4 PCDHA4 ortholog of mouse CNR1, KIAA0345-like 10 CNR1, CNRN1, CRNR1, PCDH-ALPHA4 Yes No Ensembl:ENSG00000204967, GenAtlas:PCDHA4, GeneCard:PCDHA4, HGNC:HGNC:8670, ModBase:Q9UN74, NCBI Gene:56144, OMIM:606310, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061730, RefSeq Protein:NP_113688, RefSeq RNA:NM_018907, RefSeq RNA:NM_031500, UCSC Genome Browser:NM_018907, UniProtKB:Q9UN74 No chr5 140186672 140391929 140807074 141012344 +PA33017 56143 HGNC:8671 ENSG00000204965 protocadherin alpha 5 PCDHA5 KIAA0345-like 9, ortholog of mouse CNR6 CNR6, CNRN6, CRNR6, PCDH-ALPHA5 Yes No Comparative Toxicogenomics Database:56143, Ensembl:ENSG00000204965, GenAtlas:PCDHA5, GeneCard:PCDHA5, HGNC:HGNC:8671, ModBase:Q9Y5H7, NCBI Gene:56143, OMIM:606311, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061731, RefSeq Protein:NP_113689, RefSeq RNA:NM_018908, RefSeq RNA:NM_031501, UCSC Genome Browser:NM_018908, UniProtKB:Q9Y5H7 No chr5 140201361 140391929 140821776 141012344 +PA33018 56142 HGNC:8672 ENSG00000081842 protocadherin alpha 6 PCDHA6 KIAA0345-like 8 CNR2, CRNR2, PCDH-ALPHA6 Yes No Ensembl:ENSG00000081842, GenAtlas:PCDHA6, GeneCard:PCDHA6, HGNC:HGNC:8672, ModBase:Q9UN73, NCBI Gene:56142, OMIM:606312, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061732, RefSeq Protein:NP_114036, RefSeq Protein:NP_114037, RefSeq RNA:NM_018909, RefSeq RNA:NM_031848, RefSeq RNA:NM_031849, UCSC Genome Browser:NM_018909, UniProtKB:Q9UN73 No chr5 140207650 140391929 140827922 141012344 +PA33019 56141 HGNC:8673 ENSG00000204963 protocadherin alpha 7 PCDHA7 KIAA0345-like 7, ortholog to mouse CNR4 CNR4, CRNR4 Yes No Ensembl:ENSG00000204963, GenAtlas:PCDHA7, GeneCard:PCDHA7, HGNC:HGNC:8673, ModBase:Q9UN72, NCBI Gene:56141, OMIM:606313, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061733, RefSeq Protein:NP_114040, RefSeq RNA:NM_018910, RefSeq RNA:NM_031852, UCSC Genome Browser:NM_018910, UniProtKB:Q9UN72 No chr5 140213969 140391929 140834384 141012344 +PA33020 56140 HGNC:8674 ENSG00000204962 protocadherin alpha 8 PCDHA8 KIAA0345-like 6 Yes No Ensembl:ENSG00000204962, GenAtlas:PCDHA8, GeneCard:PCDHA8, HGNC:HGNC:8674, ModBase:Q9Y5H6, NCBI Gene:56140, OMIM:606314, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061734, RefSeq Protein:NP_114062, RefSeq RNA:NM_018911, RefSeq RNA:NM_031856, UCSC Genome Browser:NM_018911, UniProtKB:Q9Y5H6 No chr5 140220907 140391929 140841322 141012344 +PA33021 9752 HGNC:8675 ENSG00000204961 protocadherin alpha 9 PCDHA9 KIAA0345-like 5 KIAA0345, PCDH-ALPHA9 Yes No Comparative Toxicogenomics Database:9752, Ensembl:ENSG00000204961, GenAtlas:PCDHA9, GeneCard:PCDHA9, HGNC:HGNC:8675, ModBase:Q9Y5H5, NCBI Gene:9752, OMIM:606315, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_054724, RefSeq Protein:NP_114063, RefSeq RNA:NM_014005, RefSeq RNA:NM_031857, UCSC Genome Browser:NM_014005, UniProtKB:Q9Y5H5 No chr5 140227357 140391929 140847772 141012344 +PA33022 56135 HGNC:8676 ENSG00000248383 protocadherin alpha subfamily C, 1 PCDHAC1 PCDH-ALPHA-C1 Yes No Ensembl:ENSG00000248383, GenAtlas:PCDHAC1, GeneCard:PCDHAC1, HGNC:HGNC:8676, ModBase:Q9H158, NCBI Gene:56135, OMIM:606320, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061721, RefSeq Protein:NP_114088, RefSeq RNA:NM_018898, RefSeq RNA:NM_031882, UCSC Genome Browser:NM_018898, UniProtKB:Q9H158 No chr5 140306302 140391929 140926717 141012344 +PA33023 56134 HGNC:8677 ENSG00000243232 protocadherin alpha subfamily C, 2 PCDHAC2 PCDH-ALPHA-C2 Yes No Ensembl:ENSG00000243232, GenAtlas:PCDHAC2, GeneCard:PCDHAC2, HGNC:HGNC:8677, HumanCyc Gene:HS01404, ModBase:Q9Y5I4, NCBI Gene:56134, OMIM:606321, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289, RefSeq Protein:NP_061722, RefSeq Protein:NP_114089, RefSeq RNA:NM_018899, RefSeq RNA:NM_031883, UCSC Genome Browser:NM_018899, UniProtKB:Q9Y5I4 No chr5 140345747 140391929 140966162 141012344 +PA33024 56119 HGNC:8678 protocadherin alpha constant PCDHACT PCDHAC Yes No GenAtlas:PCDHACT, GeneCard:PCDHACT, HGNC:HGNC:8678, NCBI Gene:56119, RefSeq DNA:NG_000016, RefSeq DNA:NT_029289 No chr5 140358534 140391929 140978949 141012344 +PA35502 56116 HGNC:8679 protocadherin beta cluster PCDHB@ PCDH3 Yes No GenAtlas:PCDHB@, GeneCard:PCDHB@, HGNC:HGNC:8679, NCBI Gene:56116, OMIM:604967, RefSeq DNA:NG_000017 No chr5 140430979 140627802 141051394 141248234 +PA33025 29930 HGNC:8680 ENSG00000171815 protocadherin beta 1 PCDHB1 PCDH-BETA1 Yes No Ensembl:ENSG00000171815, GenAtlas:PCDHB1, GeneCard:PCDHB1, HGNC:HGNC:8680, HumanCyc Gene:HS10388, ModBase:Q9Y5F3, NCBI Gene:29930, OMIM:606327, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_037472, RefSeq RNA:NM_013340, UCSC Genome Browser:NM_013340, UniProtKB:Q9Y5F3 No chr5 140430979 140433512 141051376 141053962 +PA33026 56126 HGNC:8681 ENSG00000120324 protocadherin beta 10 PCDHB10 Yes No Ensembl:ENSG00000120324, GenAtlas:PCDHB10, GeneCard:PCDHB10, HGNC:HGNC:8681, HumanCyc Gene:HS04391, ModBase:Q9UN67, NCBI Gene:56126, OMIM:606336, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061753, RefSeq RNA:NM_018930, UCSC Genome Browser:NM_018930, UniProtKB:Q9UN67 No chr5 140571952 140575213 141192379 141195640 +PA33027 56125 HGNC:8682 ENSG00000197479 protocadherin beta 11 PCDHB11 cadherin ME2 ME2, PCDH-BETA11 Yes No Ensembl:ENSG00000197479, GenAtlas:PCDHB11, GeneCard:PCDHB11, HGNC:HGNC:8682, HumanCyc Gene:HS04393, ModBase:Q9Y5F2, NCBI Gene:56125, OMIM:606337, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061754, RefSeq RNA:NM_018931, UCSC Genome Browser:NM_018931, UniProtKB:Q9Y5F2 No chr5 140578916 140582618 141199775 141203045 +PA33028 56124 HGNC:8683 ENSG00000120328 protocadherin beta 12 PCDHB12 PCDH-BETA12 Yes No Ensembl:ENSG00000120328, GenAtlas:PCDHB12, GeneCard:PCDHB12, HGNC:HGNC:8683, ModBase:Q9Y5F1, NCBI Gene:56124, OMIM:606338, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061755, RefSeq RNA:NM_018932, UCSC Genome Browser:NM_018932, UniProtKB:Q9Y5F1 No chr5 140587914 140592143 141208719 141212126 +PA33029 56123 HGNC:8684 ENSG00000187372 protocadherin beta 13 PCDHB13 PCDH-BETA13 Yes No Ensembl:ENSG00000187372, GenAtlas:PCDHB13, GeneCard:PCDHB13, HGNC:HGNC:8684, ModBase:Q9Y5F0, NCBI Gene:56123, OMIM:606339, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061756, RefSeq RNA:NM_018933, UCSC Genome Browser:NM_018933, UniProtKB:Q9HAB4, UniProtKB:Q9Y5F0 No chr5 140593509 140596993 141213919 141217421 +PA33030 56122 HGNC:8685 ENSG00000120327 protocadherin beta 14 PCDHB14 PCDH-BETA14 Yes No Ensembl:ENSG00000120327, GenAtlas:PCDHB14, GeneCard:PCDHB14, HGNC:HGNC:8685, HumanCyc Gene:HS04392, ModBase:Q9Y5E9, NCBI Gene:56122, OMIM:606340, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061757, RefSeq RNA:NM_018934, UCSC Genome Browser:NM_018934, UniProtKB:Q9Y5E9 No chr5 140603078 140605860 141222326 141226288 +PA33031 56121 HGNC:8686 ENSG00000113248 protocadherin beta 15 PCDHB15 PCDH-BETA15 Yes No Ensembl:ENSG00000113248, GenAtlas:PCDHB15, GeneCard:PCDHB15, HGNC:HGNC:8686, HumanCyc Gene:HS03661, ModBase:Q9Y5E8, NCBI Gene:56121, OMIM:606341, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061758, RefSeq RNA:NM_018935, UCSC Genome Browser:NM_018935, UniProtKB:Q9Y5E8 No chr5 140625147 140627802 141245349 141248234 +PA33032 57717 HGNC:14546 ENSG00000272674 protocadherin beta 16 PCDHB16 PCDHbeta 16, cadherin ME1, protocadherin-3x KIAA1621, ME1, PCDH-BETA16, PCDH3X, PCDHB8a Yes No Comparative Toxicogenomics Database:57717, Ensembl:ENSG00000272674, GenAtlas:PCDHB16, GeneCard:PCDHB16, HGNC:HGNC:14546, ModBase:Q9NRJ7, NCBI Gene:57717, OMIM:606345, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_066008, RefSeq RNA:NM_020957, UCSC Genome Browser:NM_020957, UniProtKB:Q9NRJ7 No chr5 140560980 140566710 141181690 141186221 +PA33035 84054 HGNC:14549 ENSG00000262096 protocadherin beta 19 pseudogene PCDHB19P PCDH-PSI5 Yes No Ensembl:ENSG00000262096, GenAtlas:PCDHB19P, GeneCard:PCDHB19P, HGNC:HGNC:14549, NCBI Gene:84054, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq RNA:NR_001282 No chr5 140619689 140624320 141240121 141244752 +PA33036 56133 HGNC:8687 ENSG00000112852 protocadherin beta 2 PCDHB2 PCDH-BETA2 Yes No Comparative Toxicogenomics Database:56133, Ensembl:ENSG00000112852, GenAtlas:PCDHB2, GeneCard:PCDHB2, HGNC:HGNC:8687, HumanCyc Gene:HS03627, ModBase:Q9Y5E7, NCBI Gene:56133, OMIM:606328, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061759, RefSeq RNA:NM_018936, UCSC Genome Browser:NM_018936, UniProtKB:Q9Y5E7 No chr5 140474195 140476964 141094607 141097380 +PA33037 56132 HGNC:8688 ENSG00000113205 protocadherin beta 3 PCDHB3 PCDH-BETA3 Yes No Ensembl:ENSG00000113205, GenAtlas:PCDHB3, GeneCard:PCDHB3, HGNC:HGNC:8688, HumanCyc Gene:HS03655, ModBase:Q9Y5E6, NCBI Gene:56132, OMIM:606329, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061760, RefSeq RNA:NM_018937, UCSC Genome Browser:NM_018937, UniProtKB:Q9Y5E6 No chr5 140480234 140483406 141100242 141103827 +PA33038 56131 HGNC:8689 ENSG00000081818 protocadherin beta 4 PCDHB4 PCDH-BETA4 Yes No Ensembl:ENSG00000081818, GenAtlas:PCDHB4, GeneCard:PCDHB4, HGNC:HGNC:8689, HumanCyc Gene:HS01403, ModBase:Q9Y5E5, NCBI Gene:56131, OMIM:606330, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061761, RefSeq RNA:NM_018938, UCSC Genome Browser:NM_018938, UniProtKB:Q9Y5E5 No chr5 140501581 140505201 141121750 141125623 +PA33039 26167 HGNC:8690 ENSG00000113209 protocadherin beta 5 PCDHB5 DKFZp586B0217, PCDH-BETA5 Yes No Ensembl:ENSG00000113209, GenAtlas:PCDHB5, GeneCard:PCDHB5, HGNC:HGNC:8690, HumanCyc Gene:HS03656, ModBase:Q9Y5E4, NCBI Gene:26167, OMIM:606331, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_056484, RefSeq RNA:NM_015669, UCSC Genome Browser:NM_015669, UniProtKB:Q9Y5E4 No chr5 140514800 140517704 141135206 141138127 +PA33040 56130 HGNC:8691 ENSG00000113211 protocadherin beta 6 PCDHB6 PCDH-BETA6 Yes Yes Ensembl:ENSG00000113211, GenAtlas:PCDHB6, GeneCard:PCDHB6, HGNC:HGNC:8691, HumanCyc Gene:HS03657, ModBase:Q9Y5E3, NCBI Gene:56130, OMIM:606332, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061762, RefSeq RNA:NM_018939, UCSC Genome Browser:NM_018939, UniProtKB:Q9Y5E3 No chr5 140529839 140532868 141150022 141153287 +PA33041 56129 HGNC:8692 ENSG00000113212 protocadherin beta 7 PCDHB7 PCDH-BETA7 Yes No Ensembl:ENSG00000113212, GenAtlas:PCDHB7, GeneCard:PCDHB7, HGNC:HGNC:8692, HumanCyc Gene:HS03658, ModBase:Q9Y5E2, NCBI Gene:56129, OMIM:606333, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061763, RefSeq RNA:NM_018940, UCSC Genome Browser:NM_018940, UniProtKB:A1L3Y8, UniProtKB:Q9Y5E2 No chr5 140552243 140555957 141172621 141176376 +PA33042 56128 HGNC:8693 ENSG00000120322 protocadherin beta 8 PCDHB8 PCDH-BETA8, PCDH3I Yes Yes Ensembl:ENSG00000120322, GenAtlas:PCDHB8, GeneCard:PCDHB8, HGNC:HGNC:8693, HumanCyc Gene:HS04390, ModBase:Q9UN66, NCBI Gene:56128, OMIM:606334, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061993, RefSeq RNA:NM_019120, UCSC Genome Browser:NM_019120, UniProtKB:Q9UN66 No chr5 140557371 140560081 141177790 141180500 +PA33043 56127 HGNC:8694 ENSG00000177839 protocadherin beta 9 PCDHB9 protocadherin-3h PCDH-BETA9, PCDH3H Yes No Ensembl:ENSG00000177839, GenAtlas:PCDHB9, GeneCard:PCDHB9, HGNC:HGNC:8694, HumanCyc Gene:HS11220, ModBase:Q9Y5E1, NCBI Gene:56127, OMIM:606335, RefSeq DNA:NG_000017, RefSeq DNA:NT_029289, RefSeq Protein:NP_061992, RefSeq RNA:NM_019119, UCSC Genome Browser:NM_019119, UniProtKB:Q9Y5E1 No chr5 140566893 140571111 141187127 141191538 +PA35503 56115 HGNC:8695 protocadherin gamma cluster PCDHG@ PCDH2, PCDH4 Yes No GenAtlas:PCDHG@, GeneCard:PCDHG@, HGNC:HGNC:8695, NCBI Gene:56115, OMIM:604968, RefSeq DNA:NG_000012 No chr5 140710252 140892546 141330685 141512979 +PA33044 56114 HGNC:8696 ENSG00000204956 protocadherin gamma subfamily A, 1 PCDHGA1 PCDH-GAMMA-A1 Yes No Comparative Toxicogenomics Database:56114, Ensembl:ENSG00000204956, GenAtlas:PCDHGA1, GeneCard:PCDHGA1, HGNC:HGNC:8696, ModBase:Q9Y5H4, NCBI Gene:56114, OMIM:606288, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061735, RefSeq Protein:NP_114382, RefSeq RNA:NM_018912, RefSeq RNA:NM_031993, UCSC Genome Browser:NM_018912, UniProtKB:Q9Y5H4 No chr5 140709388 140892546 141330685 141512979 +PA33045 56106 HGNC:8697 ENSG00000253846 protocadherin gamma subfamily A, 10 PCDHGA10 PCDH-GAMMA-A10 Yes No Ensembl:ENSG00000253846, GenAtlas:PCDHGA10, GeneCard:PCDHGA10, HGNC:HGNC:8697, ModBase:Q9Y5H3, NCBI Gene:56106, OMIM:606297, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061736, RefSeq Protein:NP_114479, RefSeq RNA:NM_018913, RefSeq RNA:NM_032090, UCSC Genome Browser:NM_018913, UniProtKB:Q9Y5H3 No chr5 140792743 140892546 141413176 141512979 +PA33046 56105 HGNC:8698 ENSG00000253873 protocadherin gamma subfamily A, 11 PCDHGA11 PCDH-GAMMA-A11 Yes No Comparative Toxicogenomics Database:56105, Ensembl:ENSG00000253873, GenAtlas:PCDHGA11, GeneCard:PCDHGA11, HGNC:HGNC:8698, ModBase:Q9Y5H2, NCBI Gene:56105, OMIM:606298, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061737, RefSeq Protein:NP_114480, RefSeq Protein:NP_114481, RefSeq RNA:NM_018914, RefSeq RNA:NM_032091, RefSeq RNA:NM_032092, UCSC Genome Browser:NM_018914, UniProtKB:Q9Y5H2 No chr5 140800537 140892546 141420970 141512979 +PA33047 26025 HGNC:8699 ENSG00000253159 protocadherin gamma subfamily A, 12 PCDHGA12 fibroblast cadherin FIB3 FIB3, KIAA0588, PCDH-GAMMA-A12 Yes No Ensembl:ENSG00000253159, GenAtlas:PCDHGA12, GeneCard:PCDHGA12, HGNC:HGNC:8699, ModBase:O60330, NCBI Gene:26025, OMIM:603059, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_003726, RefSeq Protein:NP_115265, RefSeq RNA:NM_003735, RefSeq RNA:NM_032094, UCSC Genome Browser:NM_003735, UniProtKB:O60330 No chr5 140810158 140892546 141430591 141512979 +PA33048 56113 HGNC:8700 ENSG00000081853 protocadherin gamma subfamily A, 2 PCDHGA2 PCDH-GAMMA-A2 Yes No Ensembl:ENSG00000081853, GenAtlas:PCDHGA2, GeneCard:PCDHGA2, HGNC:HGNC:8700, ModBase:Q9Y5H1, NCBI Gene:56113, OMIM:606289, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061738, RefSeq Protein:NP_114398, RefSeq RNA:NM_018915, RefSeq RNA:NM_032009, UCSC Genome Browser:NM_018915, UniProtKB:Q9Y5H1 No chr5 140718354 140892546 141338760 141512979 +PA33049 56112 HGNC:8701 ENSG00000254245 protocadherin gamma subfamily A, 3 PCDHGA3 PCDH-GAMMA-A3 Yes No Comparative Toxicogenomics Database:56112, Ensembl:ENSG00000254245, GenAtlas:PCDHGA3, GeneCard:PCDHGA3, HGNC:HGNC:8701, ModBase:Q9Y5H0, NCBI Gene:56112, OMIM:606290, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061739, RefSeq Protein:NP_114400, RefSeq RNA:NM_018916, RefSeq RNA:NM_032011, UCSC Genome Browser:NM_018916, UniProtKB:Q9Y5H0 No chr5 140723601 140892546 141344034 141512979 +PA33050 56111 HGNC:8702 ENSG00000262576 protocadherin gamma subfamily A, 4 PCDHGA4 PCDH-GAMMA-A4 Yes No Ensembl:ENSG00000262576, GenAtlas:PCDHGA4, GeneCard:PCDHGA4, HGNC:HGNC:8702, ModBase:Q9Y5G9, NCBI Gene:56111, OMIM:606291, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061740, RefSeq Protein:NP_114442, RefSeq RNA:NM_018917, RefSeq RNA:NM_032053, UCSC Genome Browser:NM_018917, UniProtKB:Q9Y5G9 No chr5 140734768 140892546 141355025 141512979 +PA33051 56110 HGNC:8703 ENSG00000253485 protocadherin gamma subfamily A, 5 PCDHGA5 cadherin ME3 CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5 Yes No Comparative Toxicogenomics Database:56110, Ensembl:ENSG00000253485, GenAtlas:PCDHGA5, GeneCard:PCDHGA5, HGNC:HGNC:8703, ModBase:Q9Y5G8, NCBI Gene:56110, OMIM:606292, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061741, RefSeq Protein:NP_114443, RefSeq RNA:NM_018918, RefSeq RNA:NM_032054, UCSC Genome Browser:NM_018918, UniProtKB:Q9Y5G8 No chr5 140743729 140892546 141364331 141512979 +PA33052 56109 HGNC:8704 ENSG00000253731 protocadherin gamma subfamily A, 6 PCDHGA6 PCDH-GAMMA-A6 Yes No Ensembl:ENSG00000253731, GenAtlas:PCDHGA6, GeneCard:PCDHGA6, HGNC:HGNC:8704, ModBase:Q9Y5G7, NCBI Gene:56109, OMIM:606293, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061742, RefSeq Protein:NP_114475, RefSeq RNA:NM_018919, RefSeq RNA:NM_032086, UCSC Genome Browser:NM_018919, UniProtKB:Q9Y5G7 No chr5 140749811 140892546 141374084 141512979 +PA33053 56108 HGNC:8705 ENSG00000253537 protocadherin gamma subfamily A, 7 PCDHGA7 PCDH-GAMMA-A7 Yes No Ensembl:ENSG00000253537, GenAtlas:PCDHGA7, GeneCard:PCDHGA7, HGNC:HGNC:8705, ModBase:Q9Y5G6, NCBI Gene:56108, OMIM:606294, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061743, RefSeq Protein:NP_114476, RefSeq RNA:NM_018920, RefSeq RNA:NM_032087, UCSC Genome Browser:NM_018920, UniProtKB:Q9Y5G6 No chr5 140762467 140892546 141382739 141512979 +PA33054 9708 HGNC:8706 ENSG00000253767 protocadherin gamma subfamily A, 8 PCDHGA8 KIAA0327, PCDH-GAMMA-A8 Yes No Ensembl:ENSG00000253767, GenAtlas:PCDHGA8, GeneCard:PCDHGA8, HGNC:HGNC:8706, ModBase:Q9Y5G5, NCBI Gene:9708, OMIM:606295, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_054723, RefSeq Protein:NP_114477, RefSeq RNA:NM_014004, RefSeq RNA:NM_032088, UCSC Genome Browser:NM_014004, UniProtKB:Q9Y5G5 No chr5 140767059 140892546 141391916 141512979 +PA33055 56107 HGNC:8707 ENSG00000261934 protocadherin gamma subfamily A, 9 PCDHGA9 PCDH-GAMMA-A9 Yes No Ensembl:ENSG00000261934, GenAtlas:PCDHGA9, GeneCard:PCDHGA9, HGNC:HGNC:8707, ModBase:Q9Y5G4, NCBI Gene:56107, OMIM:606296, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061744, RefSeq Protein:NP_114478, RefSeq RNA:NM_018921, RefSeq RNA:NM_032089, UCSC Genome Browser:NM_018921, UniProtKB:Q9Y5G4 No chr5 140782520 140892546 141402953 141512979 +PA33056 56104 HGNC:8708 ENSG00000254221 protocadherin gamma subfamily B, 1 PCDHGB1 protocadherin gamma subfamily B, 1, isoform 2 PCDH-GAMMA-B1 Yes No Ensembl:ENSG00000254221, GenAtlas:PCDHGB1, GeneCard:PCDHGB1, HGNC:HGNC:8708, ModBase:Q9Y5G3, NCBI Gene:56104, OMIM:606299, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061745, RefSeq Protein:NP_115266, RefSeq RNA:NM_018922, RefSeq RNA:NM_032095, UCSC Genome Browser:NM_018922, UniProtKB:Q9Y5G3 No chr5 140729828 140892546 141350261 141512979 +PA33057 56103 HGNC:8709 ENSG00000253910 protocadherin gamma subfamily B, 2 PCDHGB2 PCDH-GAMMA-B2 Yes No Ensembl:ENSG00000253910, GenAtlas:PCDHGB2, GeneCard:PCDHGB2, HGNC:HGNC:8709, ModBase:Q9Y5G2, NCBI Gene:56103, OMIM:606300, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061746, RefSeq Protein:NP_115267, RefSeq RNA:NM_018923, RefSeq RNA:NM_032096, UCSC Genome Browser:NM_018923, UniProtKB:Q9Y5G2 No chr5 140739409 140892546 141360136 141512979 +PA33058 56102 HGNC:8710 ENSG00000262209 protocadherin gamma subfamily B, 3 PCDHGB3 PCDH-GAMMA-B3 Yes No Ensembl:ENSG00000262209, GenAtlas:PCDHGB3, GeneCard:PCDHGB3, HGNC:HGNC:8710, ModBase:Q9Y5G1, NCBI Gene:56102, OMIM:606301, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061747, RefSeq Protein:NP_115268, RefSeq RNA:NM_018924, RefSeq RNA:NM_032097, UCSC Genome Browser:NM_018924, UniProtKB:Q9Y5G1 No chr5 140749962 140892546 141370264 141512979 +PA33059 8641 HGNC:8711 ENSG00000253953 protocadherin gamma subfamily B, 4 PCDHGB4 cadherin 20, fibroblast cadherin FIB2 CDH20, FIB2, PCDH-GAMMA-B4 Yes No Ensembl:ENSG00000253953, GenAtlas:PCDHGB4, GeneCard:PCDHGB4, HGNC:HGNC:8711, ModBase:Q9UN71, NCBI Gene:8641, OMIM:603058, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_003727, RefSeq Protein:NP_115269, RefSeq RNA:NM_003736, RefSeq RNA:NM_032098, UCSC Genome Browser:NM_003736, UniProtKB:Q9UN71 No chr5 140767452 140892546 141387885 141512979 +PA33060 56101 HGNC:8712 ENSG00000276547 protocadherin gamma subfamily B, 5 PCDHGB5 PCDH-GAMMA-B5 Yes No Ensembl:ENSG00000276547, GenAtlas:PCDHGB5, GeneCard:PCDHGB5, HGNC:HGNC:8712, ModBase:Q9Y5G0, NCBI Gene:56101, OMIM:606302, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061748, RefSeq Protein:NP_115270, RefSeq RNA:NM_018925, RefSeq RNA:NM_032099, UCSC Genome Browser:NM_018925, UniProtKB:Q9Y5G0 No chr5 140777695 140892546 141398128 141512979 +PA33061 56100 HGNC:8713 ENSG00000253305 protocadherin gamma subfamily B, 6 PCDHGB6 PCDH-GAMMA-B6 Yes No Comparative Toxicogenomics Database:56100, Ensembl:ENSG00000253305, GenAtlas:PCDHGB6, GeneCard:PCDHGB6, HGNC:HGNC:8713, ModBase:Q9Y5F9, NCBI Gene:56100, OMIM:606303, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061749, RefSeq Protein:NP_115271, RefSeq RNA:NM_018926, RefSeq RNA:NM_032100, UCSC Genome Browser:NM_018926, UniProtKB:Q9Y5F9 No chr5 140787588 140892546 141408203 141512979 +PA33062 56099 HGNC:8714 ENSG00000254122 protocadherin gamma subfamily B, 7 PCDHGB7 cadherin ME6 ME6, PCDH-GAMMA-B7 Yes No Ensembl:ENSG00000254122, GenAtlas:PCDHGB7, GeneCard:PCDHGB7, HGNC:HGNC:8714, ModBase:Q9Y5F8, NCBI Gene:56099, OMIM:606304, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061750, RefSeq Protein:NP_115272, RefSeq RNA:NM_018927, RefSeq RNA:NM_032101, UCSC Genome Browser:NM_018927, UniProtKB:Q9Y5F8 No chr5 140797214 140892548 141417647 141512981 +PA35504 56120 HGNC:8715 ENSG00000248449 protocadherin gamma subfamily B, 8 pseudogene PCDHGB8P PCDH-PSI3 Yes No Ensembl:ENSG00000248449, GenAtlas:PCDHGB8P, GeneCard:PCDHGB8P, HGNC:HGNC:8715, NCBI Gene:56120, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq RNA:NR_001297 No chr5 140805853 140807825 141426286 141428258 +PA33063 84055 HGNC:15688 ENSG00000276545 protocadherin gamma subfamily B, 9 pseudogene PCDHGB9P PSI6 Yes No Ensembl:ENSG00000276545, GenAtlas:PCDHGB9P, GeneCard:PCDHGB9P, HGNC:HGNC:15688, NCBI Gene:84055, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289 No chr5 140819690 140821993 141440123 141442426 +PA33064 5098 HGNC:8716 ENSG00000240184 protocadherin gamma subfamily C, 3 PCDHGC3 cadherin-like 2, protocadherin 2, protocadherin 43 PC-43, PC43, PCDH-GAMMA-C3 Yes No Comparative Toxicogenomics Database:5098, Ensembl:ENSG00000240184, GenAtlas:PCDHGC3, GeneCard:PCDHGC3, HGNC:HGNC:8716, ModBase:Q9UN70, NCBI Gene:5098, OMIM:603627, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_002579, RefSeq Protein:NP_115778, RefSeq Protein:NP_115779, RefSeq RNA:NM_002588, RefSeq RNA:NM_032402, RefSeq RNA:NM_032403, UCSC Genome Browser:NM_002588, UniProtKB:Q9BR81, UniProtKB:Q9UN70 No chr5 140855569 140892546 141476002 141512977 +PA33065 56098 HGNC:8717 ENSG00000242419 protocadherin gamma subfamily C, 4 PCDHGC4 PCDH-GAMMA-C4 Yes No Ensembl:ENSG00000242419, GenAtlas:PCDHGC4, GeneCard:PCDHGC4, HGNC:HGNC:8717, ModBase:Q9Y5F7, NCBI Gene:56098, OMIM:606305, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061751, RefSeq Protein:NP_115782, RefSeq RNA:NM_018928, RefSeq RNA:NM_032406, UCSC Genome Browser:NM_018928, UniProtKB:A4FU17, UniProtKB:Q9Y5F7 No chr5 140864741 140892546 141485174 141512979 +PA33066 56097 HGNC:8718 ENSG00000240764 protocadherin gamma subfamily C, 5 PCDHGC5 PCDH-GAMMA-C5 Yes No Comparative Toxicogenomics Database:56097, Ensembl:ENSG00000240764, GenAtlas:PCDHGC5, GeneCard:PCDHGC5, HGNC:HGNC:8718, HumanCyc Gene:HS01405, ModBase:Q9Y5F6, NCBI Gene:56097, OMIM:606306, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_061752, RefSeq Protein:NP_115783, RefSeq RNA:NM_018929, RefSeq RNA:NM_032407, UCSC Genome Browser:NM_018929, UniProtKB:Q9Y5F6 No chr5 140868808 140892546 141489241 141512979 +PA33067 56118 HGNC:8719 protocadherin gamma constant PCDHGCT PCDHGC Yes No GenAtlas:PCDHGCT, GeneCard:PCDHGCT, HGNC:HGNC:8719, NCBI Gene:56118 No chr5 +PA25790 64773 HGNC:16212 ENSG00000132635 PC-esterase domain containing 1A PCED1A C20orf81, FAM113A, FLJ22376, bA12M19.1 Yes No Ensembl:ENSG00000132635, GenAtlas:FAM113A, GeneCard:FAM113A, HGNC:HGNC:16212, HumanCyc Gene:HS13437, ModBase:Q9H1Q7, NCBI Gene:64773, RefSeq DNA:NT_011387, RefSeq Protein:NP_073597, RefSeq RNA:NM_022760, UCSC Genome Browser:NM_022760, UniProtKB:Q9H1Q7 No chr20 2815960 2821889 2835314 2841243 +PA143485471 91523 HGNC:28255 ENSG00000179715 PC-esterase domain containing 1B PCED1B FAM113B, MGC16044 Yes No Ensembl:ENSG00000179715, GeneCard:FAM113B, HGNC:HGNC:28255, HumanCyc Gene:HS17338, ModBase:Q96HM7, NCBI Gene:91523, RefSeq DNA:NT_029419, RefSeq Protein:NP_612380, RefSeq RNA:NM_138371, UniProtKB:Q96HM7 No chr12 47473386 47630446 47079603 47236663 +PA142671196 51585 HGNC:30097 ENSG00000165494 PCF11 cleavage and polyadenylation factor subunit PCF11 """PCF11 cleavage and polyadenylation factor subunit"", ""PCF11, cleavage and polyadenylation factor subunit"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)""" KIAA0824 Yes No Comparative Toxicogenomics Database:51585, Ensembl:ENSG00000165494, GeneCard:PCF11, HGNC:HGNC:30097, HumanCyc Gene:HS09239, ModBase:O94913, NCBI Gene:51585, OMIM:608876, RefSeq DNA:NT_167190, RefSeq Protein:NP_056969, RefSeq RNA:NM_015885, UniProtKB:O94913 No chr11 82868137 82896836 83157095 83185794 +PA162398976 64002 HGNC:30145 ENSG00000227418 PCGEM1, prostate-specific transcript (non-protein coding) PCGEM1 long intergenic non-protein coding RNA 71, non-protein coding RNA 71 LINC00071, NCRNA00071 Yes No Ensembl:ENSG00000227418, GeneCard:PCGEM1, HGNC:HGNC:30145, NCBI Gene:64002, OMIM:605443, RefSeq DNA:NT_005403, RefSeq RNA:NR_002769 No chr2 193614571 193641625 192749845 192776899 +PA134976631 84759 HGNC:17615 ENSG00000115289 polycomb group ring finger 1 PCGF1 MGC10882, NSPC1, RNF68 Yes No Comparative Toxicogenomics Database:84759, Ensembl:ENSG00000115289, GeneCard:PCGF1, HGNC:HGNC:17615, HumanCyc Gene:HS12839, ModBase:Q9BSM1, NCBI Gene:84759, OMIM:610231, RefSeq DNA:NT_022184, RefSeq Protein:NP_116062, RefSeq RNA:NM_032673, UniProtKB:Q9BSM1 No chr2 74732170 74735707 74505043 74508580 +PA37516 7703 HGNC:12929 ENSG00000277258 polycomb group ring finger 2 PCGF2 MEL-18, RNF110, ZNF144 Yes No Comparative Toxicogenomics Database:7703, Ensembl:ENSG00000277258, GenAtlas:PCGF2, GeneCard:PCGF2, HGNC:HGNC:12929, HumanCyc Gene:HS00698, ModBase:P35227, NCBI Gene:7703, OMIM:600346, RefSeq DNA:NT_010783, RefSeq Protein:NP_009075, RefSeq RNA:NM_007144, UCSC Genome Browser:NM_007144, UniProtKB:P35227 No chr17 36890150 36906070 38733897 38749817 +PA34433 10336 HGNC:10066 ENSG00000185619 polycomb group ring finger 3 PCGF3 DONG1, FLJ36550, MGC40413, RNF3, RNF3A Yes Yes Comparative Toxicogenomics Database:10336, Ensembl:ENSG00000185619, GenAtlas:PCGF3, GeneCard:PCGF3, HGNC:HGNC:10066, HumanCyc Gene:HS12222, ModBase:Q3KNV8, NCBI Gene:10336, RefSeq DNA:NT_037622, RefSeq Protein:NP_006306, RefSeq RNA:NM_006315, UCSC Genome Browser:NM_006315, UniProtKB:Q3KNV8 No chr4 699537 764428 705741 770980 +PA134929149 84333 HGNC:28264 ENSG00000180628 polycomb group ring finger 5 PCGF5 MGC16202, RNF159 Yes No Comparative Toxicogenomics Database:84333, Ensembl:ENSG00000180628, GeneCard:PCGF5, HGNC:HGNC:28264, HumanCyc Gene:HS17536, ModBase:Q86SE9, NCBI Gene:84333, RefSeq DNA:NT_030059, RefSeq Protein:NP_115749, RefSeq RNA:NM_032373, UniProtKB:Q86SE9 No chr10 92922769 93044088 91162403 91284331 +PA134887110 84108 HGNC:21156 ENSG00000156374 polycomb group ring finger 6 PCGF6 MBLR, RNF134 Yes No Comparative Toxicogenomics Database:84108, Ensembl:ENSG00000156374, GeneCard:PCGF6, HGNC:HGNC:21156, HumanCyc Gene:HS14613, ModBase:Q9BYE7, NCBI Gene:84108, OMIM:607816, RefSeq DNA:NT_030059, RefSeq Protein:NP_001011663, RefSeq Protein:NP_115530, RefSeq RNA:NM_001011663, RefSeq RNA:NM_032154, UniProtKB:Q9BYE7 No chr10 105062553 105110891 103302796 103351134 +PA134916345 253272 HGNC:30341 ENSG00000268140 polycomb group ring finger 7 pseudogene PCGF7P Yes No Ensembl:ENSG00000268140, GeneCard:PCGF7P, HGNC:HGNC:30341, NCBI Gene:253272, RefSeq DNA:NG_003076, RefSeq DNA:NT_011295 No chr19 22320726 22322900 22137924 22140098 +PA144596397 55795 HGNC:25653 ENSG00000126226 PCI domain containing 2 PCID2 FLJ11305 Yes No Ensembl:ENSG00000126226, GeneCard:PCID2, HGNC:HGNC:25653, HumanCyc Gene:HS13199, NCBI Gene:55795, RefSeq DNA:NT_027140, RefSeq Protein:NP_001120674, RefSeq Protein:NP_001120675, RefSeq Protein:NP_060856, RefSeq RNA:NM_001127202, RefSeq RNA:NM_001127203, RefSeq RNA:NM_018386, UniProtKB:A8K097, UniProtKB:Q5JVF3 No chr13 113831853 113863335 113165002 113209466 +PA162398977 63935 HGNC:16200 ENSG00000100982 phosphorylated CTD interacting factor 1 PCIF1 """PDX1 C-terminal inhibiting factor 1"", ""cap-specific adenosine methyltransferase'"", ""mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase"", ""protein phosphatase 1, regulatory subunit 121""" C20orf67, CAPAM, MT-A70, PPP1R121, bA465L10.1 Yes No Ensembl:ENSG00000100982, GeneCard:PCIF1, HGNC:HGNC:16200, HumanCyc Gene:HS12432, ModBase:Q9H4Z3, NCBI Gene:63935, RefSeq DNA:NT_011362, RefSeq Protein:NP_071387, RefSeq RNA:NM_022104, UniProtKB:Q9H4Z3 No chr20 44563313 44576732 45934674 45948023 +PA33069 5105 HGNC:8724 ENSG00000124253 phosphoenolpyruvate carboxykinase 1 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) PEPCK-C Yes Yes Comparative Toxicogenomics Database:5105, Ensembl:ENSG00000124253, GenAtlas:PCK1, GeneCard:PCK1, HGNC:HGNC:8724, HumanCyc Gene:HS04751, ModBase:P35558, NCBI Gene:5105, OMIM:261680, RefSeq DNA:NG_008205, RefSeq DNA:NT_011362, RefSeq Protein:NP_002582, RefSeq RNA:NM_002591, UCSC Genome Browser:NM_002591, UniProtKB:P35558 No chr20 56136137 56141515 57561081 57566461 +PA33070 5106 HGNC:8725 ENSG00000100889 phosphoenolpyruvate carboxykinase 2, mitochondrial PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) PEPCK, PEPCK2 Yes No Comparative Toxicogenomics Database:5106, Ensembl:ENSG00000100889, GenAtlas:PCK2, GeneCard:PCK2, HGNC:HGNC:8725, HumanCyc Gene:HS02160, ModBase:Q16822, NCBI Gene:5106, OMIM:261650, RefSeq DNA:NG_008162, RefSeq DNA:NT_026437, RefSeq Protein:NP_001018083, RefSeq Protein:NP_004554, RefSeq RNA:NM_001018073, RefSeq RNA:NM_004563, UCSC Genome Browser:NM_004563, UniProtKB:Q16822 No chr14 24563347 24573339 24094131 24104132 +PA134974023 9768 HGNC:28961 ENSG00000166803 PCNA clamp associated factor PCLAF PCNA-associated factor KIAA0101, NS5ATP9, OEATC-1, PAF15, p15(PAF) Yes No Comparative Toxicogenomics Database:9768, Ensembl:ENSG00000166803, GeneCard:KIAA0101, HGNC:HGNC:28961, HumanCyc Gene:HS15486, NCBI Gene:9768, OMIM:610696, RefSeq DNA:NT_010194, RefSeq Protein:NP_001025160, RefSeq Protein:NP_055551, RefSeq RNA:NM_001029989, RefSeq RNA:NM_014736, UniProtKB:A6NNU5, UniProtKB:Q15004 No chr15 64657193 64679914 64364994 64387687 +PA33072 27445 HGNC:13406 ENSG00000186472 piccolo presynaptic cytomatrix protein PCLO aczonin ACZ, DKFZp779G1236, KIAA0559 Yes No Ensembl:ENSG00000186472, GenAtlas:PCLO, GeneCard:PCLO, HGNC:HGNC:13406, HumanCyc Gene:HS01162, ModBase:Q9Y6V0, NCBI Gene:27445, OMIM:604918, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_055325, RefSeq Protein:NP_149015, RefSeq RNA:NM_014510, RefSeq RNA:NM_033026, UniProtKB:Q9Y6V0 No chr7 82383321 82792197 82754005 83164162 +PA33073 5108 HGNC:8727 ENSG00000078674 pericentriolar material 1 PCM1 PTC4 Yes No Comparative Toxicogenomics Database:5108, Ensembl:ENSG00000078674, GenAtlas:PCM1, GeneCard:PCM1, HGNC:HGNC:8727, HumanCyc Gene:HS01295, NCBI Gene:5108, OMIM:188550, OMIM:600299, RefSeq DNA:NT_167187, RefSeq Protein:NP_006188, RefSeq RNA:NM_006197, UCSC Genome Browser:NM_006197, UniProtKB:A2RUU9, UniProtKB:Q15154 No chr8 17780364 17887457 17922763 18029948 +PA262 5110 HGNC:8728 ENSG00000120265 protein-L-isoaspartate (D-aspartate) O-methyltransferase PCMT1 Yes No Comparative Toxicogenomics Database:5110, Ensembl:ENSG00000120265, GenAtlas:PCMT1, GeneCard:PCMT1, HGNC:HGNC:8728, HumanCyc Gene:HS04385, ModBase:Q99625, NCBI Gene:5110, OMIM:176851, RefSeq DNA:NT_025741, RefSeq Protein:NP_005380, RefSeq RNA:NM_005389, UCSC Genome Browser:NM_005389 No chr6 150070831 150132557 149749695 149811421 +PA142671194 115294 HGNC:30483 ENSG00000168300 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 PCMTD1 FLJ10883 Yes No Comparative Toxicogenomics Database:115294, Ensembl:ENSG00000168300, GeneCard:PCMTD1, HGNC:HGNC:30483, HumanCyc Gene:HS09730, ModBase:Q96MG8, NCBI Gene:115294, RefSeq DNA:NT_008183, RefSeq Protein:NP_443169, RefSeq RNA:NM_052937, UniProtKB:Q96MG8 No chr8 52730140 52811735 51817575 51899186 +PA165791570 100874520 HGNC:38804 ENSG00000226061 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 1 PCMTD1P1 Yes No Ensembl:ENSG00000226061, HGNC:HGNC:38804, NCBI Gene:100874520 No chrY 10011453 10011813 10173844 10174204 +PA25750 55251 HGNC:15882 ENSG00000203880 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 PCMTD2 C20orf36, FLJ10883 Yes No Comparative Toxicogenomics Database:55251, Ensembl:ENSG00000203880, GenAtlas:PCMTD2, GeneCard:PCMTD2, HGNC:HGNC:15882, HumanCyc Gene:HS11004, ModBase:Q9NV79, NCBI Gene:55251, RefSeq DNA:NT_011333, RefSeq Protein:NP_001098395, RefSeq Protein:NP_060727, RefSeq RNA:NM_001104925, RefSeq RNA:NM_018257, UCSC Genome Browser:NM_018257, UniProtKB:Q9NV79 No chr20 62887048 62907583 64255695 64276226 +PA263 5111 HGNC:8729 ENSG00000132646 proliferating cell nuclear antigen PCNA Yes No Comparative Toxicogenomics Database:5111, Ensembl:ENSG00000132646, GenAtlas:PCNA, GeneCard:PCNA, HGNC:HGNC:8729, HumanCyc Gene:HS05667, ModBase:P12004, NCBI Gene:5111, OMIM:176740, RefSeq DNA:NT_011387, RefSeq Protein:NP_002583, RefSeq Protein:NP_872590, RefSeq RNA:NM_002592, RefSeq RNA:NM_182649, UCSC Genome Browser:NM_002592, UniProtKB:P12004 No chr20 5095599 5107268 5114953 5126622 +PA165392488 100302739 HGNC:37184 PCNA antisense RNA 1 PCNA-AS1 Yes No GeneCard:PCNA-AS1, HGNC:HGNC:37184, NCBI Gene:100302739, RefSeq RNA:NR_028370 No chr20 5100232 5100615 5119586 5119969 +PA33076 359806 HGNC:8732 ENSG00000249065 proliferating cell nuclear antigen pseudogene 1 PCNAP1 p1PCNA Yes No Ensembl:ENSG00000249065, GenAtlas:PCNAP1, GeneCard:PCNAP1, HGNC:HGNC:8732, NCBI Gene:359806, RefSeq DNA:NG_002902, RefSeq DNA:NT_016354, RefSeq RNA:NR_028270 No chr4 100081750 100082804 99160593 99161647 +PA33077 359805 HGNC:8733 proliferating cell nuclear antigen pseudogene 2 PCNAP2 pF2PCNA Yes No GenAtlas:PCNAP2, GeneCard:PCNAP2, HGNC:HGNC:8733, NCBI Gene:359805, RefSeq DNA:NG_002901, RefSeq DNA:NT_016354 No chr4 100083711 100083847 99162554 99162690 +PA143485572 57092 HGNC:30023 ENSG00000081154 PEST proteolytic signal containing nuclear protein PCNP Yes No Ensembl:ENSG00000081154, GeneCard:PCNP, HGNC:HGNC:30023, HumanCyc Gene:HS01386, ModBase:Q8WW12, NCBI Gene:57092, RefSeq DNA:NT_005612, RefSeq Protein:NP_065090, RefSeq RNA:NM_020357, UniProtKB:Q8WW12 No chr3 101292997 101313281 101574094 101594465 +PA142671195 654427 HGNC:32440 ENSG00000258359 PEST containing nuclear protein pseudogene 1 PCNPP1 Yes No Ensembl:ENSG00000258359, GeneCard:PCNPP1, HGNC:HGNC:32440, NCBI Gene:654427, RefSeq DNA:NG_009494, RefSeq DNA:NT_009775 No chr12 112104728 112108183 111666931 111670379 +PA33079 5116 HGNC:16068 ENSG00000160299 pericentrin PCNT Seckel syndrome 4, kendrin KEN, KIAA0402, PCN, PCNT2, PCNTB, SCKL4 Yes No Comparative Toxicogenomics Database:5116, Ensembl:ENSG00000160299, GenAtlas:PCNT, GeneCard:PCNT, HGNC:HGNC:16068, HumanCyc Gene:HS08483, ModBase:O95613, NCBI Gene:5116, OMIM:210720, OMIM:605925, RefSeq DNA:NG_008961, RefSeq DNA:NT_011515, RefSeq Protein:NP_006022, RefSeq RNA:NM_006031, UCSC Genome Browser:NM_006031, UniProtKB:O95613 No chr21 47743976 47865682 46324103 46445769 +PA134905848 22990 HGNC:19740 ENSG00000100731 pecanex 1 PCNX1 pecanex homolog (Drosophila) KIAA0805, KIAA0995, PCNX, PCNXL1, pecanex Yes No Ensembl:ENSG00000100731, GeneCard:PCNX, HGNC:HGNC:19740, HumanCyc Gene:HS12424, ModBase:Q96RV3, NCBI Gene:22990, RefSeq DNA:NT_026437, RefSeq Protein:NP_055797, RefSeq RNA:NM_014982, UniProtKB:Q96RV3 No chr14 71374122 71582099 70907405 71115382 +PA33081 80003 HGNC:8736 ENSG00000135749 pecanex 2 PCNX2 pecanex-like 2 (Drosophila) FLJ11383, KIAA0435, PCNXL2 Yes No Ensembl:ENSG00000135749, GenAtlas:PCNXL2, GeneCard:PCNXL2, HGNC:HGNC:8736, ModBase:A6NKB5, NCBI Gene:80003, RefSeq DNA:NT_167186, RefSeq Protein:NP_055616, RefSeq RNA:NM_014801, UniProtKB:A6NKB5, UniProtKB:B3KNZ5 No chr1 233119855 233431459 232984109 233295735 +PA38680 399909 HGNC:18760 ENSG00000197136 pecanex 3 PCNX3 pecanex-like 3 (Drosophila) FLJ22427, PCNXL3 Yes No Ensembl:ENSG00000197136, GenAtlas:PCNXL3, GeneCard:PCNXL3, HGNC:HGNC:18760, ModBase:Q9H6A9, NCBI Gene:399909, RefSeq DNA:NT_167190, RefSeq Protein:NP_115599, RefSeq RNA:NM_032223, UCSC Genome Browser:NM_032223, UniProtKB:Q9H6A9 No chr11 65383686 65404910 65614311 65637439 +PA134919147 64430 HGNC:20349 ENSG00000126773 pecanex 4 PCNX4 pecanex-like 4 (Drosophila) C14orf135, PCNXL4 Yes No Ensembl:ENSG00000126773, GeneCard:C14orf135, HGNC:HGNC:20349, HumanCyc Gene:HS13215, NCBI Gene:64430, RefSeq DNA:NT_026437, RefSeq Protein:NP_071940, RefSeq RNA:NM_022495, UniProtKB:B6ZDM2, UniProtKB:Q63HM2 No chr14 60558545 60601532 60091276 60142976 +PA33083 5118 HGNC:8738 ENSG00000106333 procollagen C-endopeptidase enhancer PCOLCE """procollagen C-proteinase enhancer 1"", ""procollagen, type 1, COOH-terminal proteinase enhancer""" PCPE, PCPE1 Yes No Comparative Toxicogenomics Database:5118, Ensembl:ENSG00000106333, GenAtlas:PCOLCE, GeneCard:PCOLCE, HGNC:HGNC:8738, HumanCyc Gene:HS02891, ModBase:Q15113, NCBI Gene:5118, OMIM:600270, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_002584, RefSeq RNA:NM_002593, UCSC Genome Browser:NM_002593, UniProtKB:Q15113 No chr7 100199882 100205798 100602259 100608175 +PA33084 26577 HGNC:8739 ENSG00000163710 procollagen C-endopeptidase enhancer 2 PCOLCE2 PCPE2 Yes No Comparative Toxicogenomics Database:26577, Ensembl:ENSG00000163710, GenAtlas:PCOLCE2, GeneCard:PCOLCE2, HGNC:HGNC:8739, HumanCyc Gene:HS08918, ModBase:Q9UKZ9, NCBI Gene:26577, OMIM:607064, RefSeq DNA:NT_005612, RefSeq Protein:NP_037495, RefSeq RNA:NM_013363, UCSC Genome Browser:NM_013363, UniProtKB:Q9UKZ9 No chr3 142536702 142608045 142817860 142889203 +PA134864901 126006 HGNC:30209 ENSG00000174788 Purkinje cell protein 2 PCP2 GPSM4, MGC41903 Yes No Comparative Toxicogenomics Database:126006, Ensembl:ENSG00000174788, GeneCard:PCP2, HGNC:HGNC:30209, NCBI Gene:126006, RefSeq DNA:NT_077812, RefSeq Protein:NP_777555, RefSeq RNA:NM_174895, UniProtKB:Q8IVA1 No chr19 7696501 7701282 7631614 7636967 +PA33087 5121 HGNC:8742 ENSG00000183036 Purkinje cell protein 4 PCP4 PEP-19 Yes No Comparative Toxicogenomics Database:5121, Ensembl:ENSG00000183036, GenAtlas:PCP4, GeneCard:PCP4, HGNC:HGNC:8742, ModBase:P48539, NCBI Gene:5121, OMIM:601629, RefSeq DNA:NT_011512, RefSeq Protein:NP_006189, RefSeq RNA:NM_006198, UCSC Genome Browser:NM_006198, UniProtKB:P48539, UniProtKB:Q6ICS4 No chr21 41239347 41301322 39867421 39929397 +PA143485573 654790 HGNC:20448 ENSG00000248485 Purkinje cell protein 4 like 1 PCP4L1 IQM1 Yes No Comparative Toxicogenomics Database:654790, Ensembl:ENSG00000248485, GeneCard:PCP4L1, HGNC:HGNC:20448, NCBI Gene:654790, RefSeq DNA:NT_004487, RefSeq Protein:NP_001096036, RefSeq RNA:NM_001102566, UniProtKB:A6NKN8 No chr1 161228517 161255240 161258727 161285450 +PA33089 5122 HGNC:8743 ENSG00000175426 proprotein convertase subtilisin/kexin type 1 PCSK1 neuroendocrine convertase 1, prohormone convertase 1, prohormone convertase 3, proprotein convertase 1, proprotein convertase 1/3 NEC1, PC1, PC1/3, PC3, SPC3 Yes No Comparative Toxicogenomics Database:5122, Ensembl:ENSG00000175426, GenAtlas:PCSK1, GeneCard:PCSK1, HGNC:HGNC:8743, HumanCyc Gene:HS10930, ModBase:P29120, NCBI Gene:5122, OMIM:162150, OMIM:600955, OMIM:612362, RefSeq DNA:NG_021161, RefSeq DNA:NT_034772, RefSeq Protein:NP_000430, RefSeq Protein:NP_001171346, RefSeq Protein:NP_001171347, RefSeq RNA:NM_000439, RefSeq RNA:NM_001177875, RefSeq RNA:NM_001177876, UCSC Genome Browser:NM_000439, UniProtKB:B7Z8T7, UniProtKB:P29120 No chr5 95726040 95768985 96390336 96433281 +PA33090 27344 HGNC:17301 ENSG00000102109 proprotein convertase subtilisin/kexin type 1 inhibitor PCSK1N BigLEN, PEN, SAAS, SCG8, SgVIII, proSAAS Yes No Comparative Toxicogenomics Database:27344, Ensembl:ENSG00000102109, GenAtlas:PCSK1N, GeneCard:PCSK1N, HGNC:HGNC:17301, HumanCyc Gene:HS02355, ModBase:Q9UHG2, NCBI Gene:27344, OMIM:300399, RefSeq DNA:NT_079573, RefSeq Protein:NP_037403, RefSeq RNA:NM_013271, UCSC Genome Browser:NM_013271, UniProtKB:Q9UHG2 No chrX 48689504 48694036 48831092 48835638 +PA33091 5126 HGNC:8744 ENSG00000125851 proprotein convertase subtilisin/kexin type 2 PCSK2 KEX2-like endoprotease 2, neuroendocrine convertase 2 NEC2, PC2, SPC2 Yes No Comparative Toxicogenomics Database:5126, Ensembl:ENSG00000125851, GenAtlas:PCSK2, GeneCard:PCSK2, HGNC:HGNC:8744, HumanCyc Gene:HS04957, ModBase:P16519, NCBI Gene:5126, OMIM:162151, RefSeq DNA:NT_011387, RefSeq Protein:NP_001188457, RefSeq Protein:NP_001188458, RefSeq Protein:NP_002585, RefSeq RNA:NM_001201528, RefSeq RNA:NM_001201529, RefSeq RNA:NM_002594, UCSC Genome Browser:NM_002594, UniProtKB:P16519, UniProtKB:Q5JYQ1 No chr20 17206752 17465223 17226107 17484578 +PA33092 54760 HGNC:8746 ENSG00000115257 proprotein convertase subtilisin/kexin type 4 PCSK4 DKFZp434B217, MGC34749, PC4, SPC5 Yes No Comparative Toxicogenomics Database:54760, Ensembl:ENSG00000115257, GenAtlas:PCSK4, GeneCard:PCSK4, HGNC:HGNC:8746, HumanCyc Gene:HS03858, ModBase:Q6UW60, NCBI Gene:54760, OMIM:600487, RefSeq DNA:NT_011255, RefSeq Protein:NP_060043, RefSeq RNA:NM_017573, UCSC Genome Browser:NM_017573, UniProtKB:B3KQ28, UniProtKB:Q6UW60 No chr19 1481427 1490886 1481428 1490874 +PA33093 5125 HGNC:8747 ENSG00000099139 proprotein convertase subtilisin/kexin type 5 PCSK5 PC5, PC6, SPC6 Yes No Comparative Toxicogenomics Database:5125, Ensembl:ENSG00000099139, GenAtlas:PCSK5, GeneCard:PCSK5, HGNC:HGNC:8747, HumanCyc Gene:HS01877, ModBase:Q92824, NCBI Gene:5125, OMIM:600488, RefSeq DNA:NT_008470, RefSeq Protein:NP_001177411, RefSeq Protein:NP_006191, RefSeq Protein:XP_002342982, RefSeq Protein:XP_002346208, RefSeq Protein:XP_002347099, RefSeq RNA:NM_001190482, RefSeq RNA:NM_006200, RefSeq RNA:XM_002342941, RefSeq RNA:XM_002346167, RefSeq RNA:XM_002347058, UCSC Genome Browser:NM_006200, UniProtKB:Q92824 No chr9 78505560 78977255 75890601 76362339 +PA32895 5046 HGNC:8569 ENSG00000140479 proprotein convertase subtilisin/kexin type 6 PCSK6 subtilisin-like proprotein convertase 4, subtilisin-like protease, subtilisin/kexin-like protease PACE4 PACE4, SPC4 Yes No Comparative Toxicogenomics Database:5046, Ensembl:ENSG00000140479, GenAtlas:PCSK6, GeneCard:PCSK6, HGNC:HGNC:8569, HumanCyc Gene:HS06724, ModBase:Q9UEJ9, NCBI Gene:5046, OMIM:167405, RefSeq DNA:NT_010274, RefSeq Protein:NP_002561, RefSeq Protein:NP_612192, RefSeq Protein:NP_612193, RefSeq Protein:NP_612194, RefSeq Protein:NP_612195, RefSeq Protein:NP_612196, RefSeq Protein:NP_612197, RefSeq Protein:NP_612198, RefSeq RNA:NM_002570, RefSeq RNA:NM_138319, RefSeq RNA:NM_138320, RefSeq RNA:NM_138321, RefSeq RNA:NM_138322, RefSeq RNA:NM_138323, RefSeq RNA:NM_138324, RefSeq RNA:NM_138325, UCSC Genome Browser:NM_002570, UniProtKB:P29122 No chr15 101844133 102030187 101303928 101489984 +PA33094 9159 HGNC:8748 ENSG00000160613 proprotein convertase subtilisin/kexin type 7 PCSK7 LPC, PC7, PC8, SPC7 Yes No Ensembl:ENSG00000160613, GenAtlas:PCSK7, GeneCard:PCSK7, HGNC:HGNC:8748, HumanCyc Gene:HS08511, ModBase:Q16549, NCBI Gene:9159, OMIM:604872, RefSeq DNA:NT_033899, RefSeq Protein:NP_004707, RefSeq RNA:NM_004716, UCSC Genome Browser:NM_004716, UniProtKB:Q16549 No chr11 117075788 117102811 117205071 117232525 +PA38617 255738 HGNC:20001 ENSG00000169174 proprotein convertase subtilisin/kexin type 9 PCSK9 FH3, HCHOLA3, NARC-1 Yes Yes Comparative Toxicogenomics Database:255738, Ensembl:ENSG00000169174, GeneCard:PCSK9, HGNC:HGNC:20001, ModBase:Q8NBP7, NCBI Gene:255738, OMIM:603776, OMIM:607786, RefSeq DNA:NG_009061, RefSeq DNA:NT_032977, RefSeq Protein:NP_777596, RefSeq RNA:NM_174936, UCSC Genome Browser:NM_174936, UniProtKB:Q8NBP7 No chr1 55505149 55530526 55039476 55064853 +PA33098 58488 HGNC:8752 ENSG00000141179 phosphatidylcholine transfer protein PCTP StAR-related lipid transfer (START) domain containing 2 STARD2 Yes No Comparative Toxicogenomics Database:58488, Ensembl:ENSG00000141179, GenAtlas:PCTP, GeneCard:PCTP, HGNC:HGNC:8752, HumanCyc Gene:HS06805, ModBase:Q9UKL6, NCBI Gene:58488, OMIM:606055, RefSeq DNA:NT_010783, RefSeq Protein:NP_001095872, RefSeq Protein:NP_067036, RefSeq RNA:NM_001102402, RefSeq RNA:NM_021213, UCSC Genome Browser:NM_021213, UniProtKB:Q549N3, UniProtKB:Q9BSC9, UniProtKB:Q9UKL6 No chr17 53828340 53920522 55750979 55845001 +PA134959852 51449 HGNC:20588 ENSG00000116005 prenylcysteine oxidase 1 PCYOX1 KIAA0908, PCL1 Yes No Comparative Toxicogenomics Database:51449, Ensembl:ENSG00000116005, GeneCard:PCYOX1, HGNC:HGNC:20588, HumanCyc Gene:HS03967, ModBase:Q9UHG3, NCBI Gene:51449, OMIM:610995, RefSeq DNA:NT_022184, RefSeq Protein:NP_057381, RefSeq RNA:NM_016297, UniProtKB:Q9UHG3 No chr2 70485231 70508317 70258099 70281185 +PA147357517 78991 HGNC:28477 ENSG00000145882 prenylcysteine oxidase 1 like PCYOX1L MGC3265 Yes No Ensembl:ENSG00000145882, GeneCard:PCYOX1L, HGNC:HGNC:28477, HumanCyc Gene:HS14115, ModBase:Q8NBM8, NCBI Gene:78991, RefSeq DNA:NT_029289, RefSeq Protein:NP_076933, RefSeq RNA:NM_024028, UniProtKB:Q8NBM8 No chr5 148737570 148749221 149358007 149375112 +PA33099 5130 HGNC:8754 ENSG00000161217 phosphate cytidylyltransferase 1A, choline PCYT1A """CTP:phosphocholine cytidylyltransferase-alpha"", ""choline-phosphate cytidylyltransferase alpha"", ""phosphate cytidylyltransferase 1, choline, alpha"", ""phosphate cytidylyltransferase 1, choline, alpha isoform"", ""phosphorylcholine transferase alpha""" CCTalpha, CT, CTPCT, PCYT1 Yes No Comparative Toxicogenomics Database:5130, Ensembl:ENSG00000161217, GenAtlas:PCYT1A, GeneCard:PCYT1A, HGNC:HGNC:8754, HumanCyc Gene:HS08577, ModBase:P49585, NCBI Gene:5130, OMIM:123695, RefSeq DNA:NT_029928, RefSeq Protein:NP_005008, RefSeq RNA:NM_005017, UCSC Genome Browser:NM_005017, UniProtKB:P49585 No chr3 195961239 196014623 196237745 196287752 +PA33100 9468 HGNC:8755 ENSG00000102230 phosphate cytidylyltransferase 1B, choline PCYT1B """CTP:phosphocholine cytidylyltransferase-beta"", ""choline-phosphate cytidylyltransferase beta"", ""phosphate cytidylyltransferase 1, choline, beta"", ""phosphorylcholine transferase beta""" CCT-beta, CCTbeta, CTB Yes No Ensembl:ENSG00000102230, GenAtlas:PCYT1B, GeneCard:PCYT1B, HGNC:HGNC:8755, HumanCyc Gene:HS02371, ModBase:Q9Y5K3, NCBI Gene:9468, OMIM:604926, RefSeq DNA:NG_013253, RefSeq DNA:NT_167197, RefSeq Protein:NP_001156736, RefSeq Protein:NP_001156737, RefSeq Protein:NP_004836, RefSeq RNA:NM_001163264, RefSeq RNA:NM_001163265, RefSeq RNA:NM_004845, UCSC Genome Browser:NM_004845, UniProtKB:Q9Y5K3 No chrX 24576204 24690979 24558087 24672862 +PA33101 5833 HGNC:8756 ENSG00000185813 phosphate cytidylyltransferase 2, ethanolamine PCYT2 CTP:phosphoethanolamine cytidylyltransferase, ethanolamine-phosphate cytidylyltransferase:, phosphorylethanolamine transferase ET Yes No Comparative Toxicogenomics Database:5833, Ensembl:ENSG00000185813, GenAtlas:PCYT2, GeneCard:PCYT2, HGNC:HGNC:8756, HumanCyc Gene:HS06840, ModBase:Q99447, NCBI Gene:5833, OMIM:602679, RefSeq DNA:NT_010663, RefSeq Protein:NP_001171846, RefSeq Protein:NP_002852, RefSeq RNA:NM_001184917, RefSeq RNA:NM_002861, RefSeq RNA:NR_033681, RefSeq RNA:NR_033682, RefSeq RNA:NR_033683, RefSeq RNA:NR_033685, UCSC Genome Browser:NM_002861, UniProtKB:Q99447 No chr17 79860777 79869340 81900965 81911477 +PA33102 11333 HGNC:14634 ENSG00000106244 PDGFA associated protein 1 PDAP1 PDGF associated protein HASPP28, PAP, PAP1 Yes No Comparative Toxicogenomics Database:11333, Ensembl:ENSG00000106244, GenAtlas:PDAP1, GeneCard:PDAP1, HGNC:HGNC:14634, HumanCyc Gene:HS02873, ModBase:Q13442, NCBI Gene:11333, OMIM:607075, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_055706, RefSeq RNA:NM_014891, UCSC Genome Browser:NM_014891, UniProtKB:Q13442 No chr7 98992296 99006305 99394673 99408682 +PA33109 5132 HGNC:8759 ENSG00000116703 phosducin PDC MEKA Yes No Ensembl:ENSG00000116703, GenAtlas:PDC, GeneCard:PDC, HGNC:HGNC:8759, HumanCyc Gene:HS04037, ModBase:P20941, NCBI Gene:5132, OMIM:171490, RefSeq DNA:NG_009101, RefSeq DNA:NT_004487, RefSeq Protein:NP_002588, RefSeq Protein:NP_072098, RefSeq RNA:NM_002597, RefSeq RNA:NM_022576, UCSC Genome Browser:NM_002597, UniProtKB:P20941, UniProtKB:Q9UP22 No chr1 186412698 186430240 186443566 186461108 +PA33110 5133 HGNC:8760 ENSG00000188389 programmed cell death 1 PDCD1 CD279, PD-1, PD1, SLEB2, hSLE1 Yes No Comparative Toxicogenomics Database:5133, Ensembl:ENSG00000188389, GenAtlas:PDCD1, GeneCard:PDCD1, HGNC:HGNC:8760, IUPHAR Receptor:504, ModBase:Q15116, NCBI Gene:5133, OMIM:152700, OMIM:600244, RefSeq DNA:NG_012110, RefSeq DNA:NT_005416, RefSeq Protein:NP_005009, RefSeq RNA:NM_005018, UCSC Genome Browser:NM_005018, UniProtKB:Q15116, UniProtKB:Q8IX89 No chr2 242792033 242801058 241849881 241858908 +PA33111 11235 HGNC:8761 ENSG00000114209 programmed cell death 10 PDCD10 CCM3, TFAR15 Yes No Comparative Toxicogenomics Database:11235, Ensembl:ENSG00000114209, GenAtlas:PDCD10, GeneCard:PDCD10, HGNC:HGNC:8761, HumanCyc Gene:HS12812, ModBase:Q9BUL8, NCBI Gene:11235, OMIM:603285, OMIM:609118, RefSeq DNA:NG_008158, RefSeq DNA:NT_005612, RefSeq Protein:NP_009148, RefSeq Protein:NP_665858, RefSeq Protein:NP_665859, RefSeq RNA:NM_007217, RefSeq RNA:NM_145859, RefSeq RNA:NM_145860, UCSC Genome Browser:NM_007217, UniProtKB:Q9BUL8 No chr3 167401692 167452693 167683891 167735690 +PA134909758 22984 HGNC:13408 ENSG00000148843 programmed cell death 11 PDCD11 ALG-4, KIAA0185, NFBP, RRP5 Yes No Comparative Toxicogenomics Database:22984, Ensembl:ENSG00000148843, GeneCard:PDCD11, HGNC:HGNC:13408, ModBase:Q14690, NCBI Gene:22984, OMIM:612333, RefSeq DNA:NT_030059, RefSeq Protein:NP_055791, RefSeq RNA:NM_014976, UniProtKB:Q14690 No chr10 105156387 105206052 103396615 103446295 +PA134891547 80380 HGNC:18731 ENSG00000197646 programmed cell death 1 ligand 2 PDCD1LG2 B7 dendritic cell molecule B7-DC, B7DC, Btdc, CD273, PD-L2, PDL2, bA574F11.2 Yes Yes Ensembl:ENSG00000197646, GeneCard:PDCD1LG2, HGNC:HGNC:18731, ModBase:Q9BQ51, NCBI Gene:80380, OMIM:605723, RefSeq DNA:NT_008413, RefSeq Protein:NP_079515, RefSeq RNA:NM_025239, UniProtKB:Q9BQ51 No chr9 5510512 5571282 5510438 5571282 +PA33112 5134 HGNC:8762 ENSG00000071994 programmed cell death 2 PDCD2 RP8, ZMYND7 Yes No Comparative Toxicogenomics Database:5134, Ensembl:ENSG00000071994, GenAtlas:PDCD2, GeneCard:PDCD2, HGNC:HGNC:8762, HumanCyc Gene:HS01048, ModBase:Q16342, NCBI Gene:5134, OMIM:600866, RefSeq DNA:NT_025741, RefSeq Protein:NP_001186390, RefSeq Protein:NP_001186391, RefSeq Protein:NP_001186392, RefSeq Protein:NP_001186393, RefSeq Protein:NP_002589, RefSeq Protein:NP_659005, RefSeq RNA:NM_001199461, RefSeq RNA:NM_001199462, RefSeq RNA:NM_001199463, RefSeq RNA:NM_001199464, RefSeq RNA:NM_002598, RefSeq RNA:NM_144781, UCSC Genome Browser:NM_002598, UniProtKB:Q16342 No chr6 170884660 170893780 170575572 170584692 +PA144596395 84306 HGNC:28194 ENSG00000126249 programmed cell death 2 like PDCD2L programmed cell death 2-like MGC13096 Yes No Comparative Toxicogenomics Database:84306, Ensembl:ENSG00000126249, GeneCard:PDCD2L, HGNC:HGNC:28194, HumanCyc Gene:HS13202, ModBase:Q9BRP1, NCBI Gene:84306, RefSeq DNA:NT_011109, RefSeq Protein:NP_115722, RefSeq RNA:NM_032346, UniProtKB:Q9BRP1 No chr19 34895300 34917073 34404398 34426168 +PA33113 27250 HGNC:8763 ENSG00000150593 programmed cell death 4 PDCD4 nuclear antigen H731, programmed cell death 4 (neoplastic transformation inhibitor) H731 Yes No Comparative Toxicogenomics Database:27250, Ensembl:ENSG00000150593, GenAtlas:PDCD4, GeneCard:PDCD4, HGNC:HGNC:8763, HumanCyc Gene:HS07676, ModBase:Q53EL6, NCBI Gene:27250, OMIM:608610, RefSeq DNA:NT_030059, RefSeq Protein:NP_001186421, RefSeq Protein:NP_055271, RefSeq Protein:NP_663314, RefSeq RNA:NM_001199492, RefSeq RNA:NM_014456, RefSeq RNA:NM_145341, UCSC Genome Browser:NM_014456, UniProtKB:B5ME91, UniProtKB:Q53EL6 No chr10 112631553 112659764 110871795 110900006 +PA33114 9141 HGNC:8764 ENSG00000105185 programmed cell death 5 PDCD5 TF1 cell apoptosis-related gene 19, TFAR19 novel apoptosis-related MGC9294, TFAR19 Yes No Comparative Toxicogenomics Database:9141, Ensembl:ENSG00000105185, GenAtlas:PDCD5, GeneCard:PDCD5, HGNC:HGNC:8764, HumanCyc Gene:HS02686, ModBase:O14737, NCBI Gene:9141, OMIM:604583, RefSeq DNA:NT_011109, RefSeq Protein:NP_004699, RefSeq RNA:NM_004708, UCSC Genome Browser:NM_004708, UniProtKB:O14737 No chr19 33072071 33078358 32581161 32587452 +PA33115 10016 HGNC:8765 ENSG00000249915 programmed cell death 6 PDCD6 apoptosis-linked gene-2 ALG-2, PEF1B Yes No Comparative Toxicogenomics Database:10016, Ensembl:ENSG00000249915, GenAtlas:PDCD6, GeneCard:PDCD6, HGNC:HGNC:8765, HumanCyc Gene:HS00782, ModBase:O75340, NCBI Gene:10016, OMIM:601057, RefSeq DNA:NT_006576, RefSeq Protein:NP_037364, RefSeq RNA:NM_013232, UCSC Genome Browser:NM_013232, UniProtKB:O75340, UniProtKB:Q53FC3 No chr5 271736 315089 271621 314974 +PA33116 10015 HGNC:8766 ENSG00000170248 programmed cell death 6 interacting protein PDCD6IP ALG-2 interacting protein X AIP1, Alix, Hp95 Yes No Comparative Toxicogenomics Database:10015, Ensembl:ENSG00000170248, GenAtlas:PDCD6IP, GeneCard:PDCD6IP, HGNC:HGNC:8766, HumanCyc Gene:HS10087, ModBase:Q8WUM4, NCBI Gene:10015, OMIM:608074, RefSeq DNA:NT_022517, RefSeq Protein:NP_001155901, RefSeq Protein:NP_037506, RefSeq RNA:NM_001162429, RefSeq RNA:NM_013374, RefSeq RNA:NR_027867, RefSeq RNA:NR_027868, UCSC Genome Browser:NM_013374, UniProtKB:Q6NUS1, UniProtKB:Q8WUM4 No chr3 33840063 33911199 33798571 33869707 +PA33117 10081 HGNC:8767 ENSG00000090470 programmed cell death 7 PDCD7 U11/U12 snRNP 59K 59K, ES18, HES18 Yes No Ensembl:ENSG00000090470, GenAtlas:PDCD7, GeneCard:PDCD7, HGNC:HGNC:8767, HumanCyc Gene:HS12330, ModBase:Q8N8D1, NCBI Gene:10081, OMIM:608138, RefSeq DNA:NT_010194, RefSeq Protein:NP_005698, RefSeq RNA:NM_005707, UCSC Genome Browser:NM_005707, UniProtKB:Q6IEG3, UniProtKB:Q8N8D1 No chr15 65409717 65426174 65117379 65133836 +PA33119 5082 HGNC:8770 ENSG00000136940 phosducin like PDCL phosducin-like DKFZp564M1863, PhLP Yes No Comparative Toxicogenomics Database:5082, Ensembl:ENSG00000136940, GenAtlas:PDCL, GeneCard:PDCL, HGNC:HGNC:8770, HumanCyc Gene:HS06254, ModBase:Q13371, NCBI Gene:5082, OMIM:604421, RefSeq DNA:NT_008470, RefSeq Protein:NP_005379, RefSeq RNA:NM_005388, UCSC Genome Browser:NM_005388, UniProtKB:Q13371, UniProtKB:Q4VXB6 No chr9 125580376 125590935 122816058 122828656 +PA134987062 132954 HGNC:29524 ENSG00000163440 phosducin like 2 PDCL2 phosducin-like 2 GCPHLP Yes No Ensembl:ENSG00000163440, GeneCard:PDCL2, HGNC:HGNC:29524, HumanCyc Gene:HS15061, ModBase:Q8N4E4, NCBI Gene:132954, OMIM:611676, RefSeq DNA:NT_022853, RefSeq Protein:NP_689614, RefSeq RNA:NM_152401, UniProtKB:Q8N4E4 No chr4 56422686 56458418 55556523 55592275 +PA134979849 79031 HGNC:28860 ENSG00000115539 phosducin like 3 PDCL3 phosducin-like 3 VIAF1 Yes No Comparative Toxicogenomics Database:79031, Ensembl:ENSG00000115539, GeneCard:PDCL3, HGNC:HGNC:28860, HumanCyc Gene:HS03906, ModBase:Q9H2J4, NCBI Gene:79031, OMIM:611678, RefSeq DNA:NT_022171, RefSeq Protein:NP_076970, RefSeq RNA:NM_024065, UniProtKB:Q9H2J4 No chr2 101179418 101193201 100562956 100577472 +PA134935462 392225 HGNC:31826 ENSG00000226301 phosducin-like 3 pseudogene 1 PDCL3P1 Yes No Ensembl:ENSG00000226301, GeneCard:PDCL3P1, HGNC:HGNC:31826, NCBI Gene:392225 No chr8 61299760 61300751 60387201 60388192 +PA142671192 643831 HGNC:31705 ENSG00000282989 phosducin-like 3 pseudogene 2 PDCL3P2 Yes No Ensembl:ENSG00000282989, GeneCard:PDCL3P2, HGNC:HGNC:31705, NCBI Gene:643831 No chr8 102883823 102884807 101871595 101872579 +PA33120 10846 HGNC:8772 ENSG00000112541 phosphodiesterase 10A PDE10A cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A Yes No Ensembl:ENSG00000112541, GenAtlas:PDE10A, GeneCard:PDE10A, HGNC:HGNC:8772, HumanCyc Gene:HS03586, ModBase:Q9Y233, NCBI Gene:10846, OMIM:610652, RefSeq DNA:NT_025741, RefSeq Protein:NP_001124162, RefSeq Protein:NP_006652, RefSeq RNA:NM_001130690, RefSeq RNA:NM_006661, UCSC Genome Browser:NM_006661, UniProtKB:Q9ULW9, UniProtKB:Q9Y233 No chr6 165740776 166075588 165327287 165988121 +PA33121 50940 HGNC:8773 ENSG00000128655 phosphodiesterase 11A PDE11A Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A Yes No Comparative Toxicogenomics Database:50940, Ensembl:ENSG00000128655, GenAtlas:PDE11A, GeneCard:PDE11A, HGNC:HGNC:8773, HumanCyc Gene:HS05213, ModBase:Q9HCR9, NCBI Gene:50940, OMIM:604961, OMIM:610475, RefSeq DNA:NG_012168, RefSeq DNA:NT_005403, RefSeq Protein:NP_001070664, RefSeq Protein:NP_001070665, RefSeq Protein:NP_001070826, RefSeq Protein:NP_058649, RefSeq RNA:NM_001077196, RefSeq RNA:NM_001077197, RefSeq RNA:NM_001077358, RefSeq RNA:NM_016953, UCSC Genome Browser:NM_016953, UniProtKB:Q9HCR9 No chr2 178487977 178973066 177623249 178108339 +PA162399016 201626 HGNC:25386 ENSG00000174840 phosphodiesterase 12 PDE12 2'-phosphodiesterase, mitochondrial deadenylase 2'-PDE, 3635, DKFZp667B1218 Yes No Ensembl:ENSG00000174840, GeneCard:PDE12, HGNC:HGNC:25386, ModBase:Q6L8Q7, NCBI Gene:201626, RefSeq DNA:NT_022517, RefSeq Protein:NP_808881, RefSeq RNA:NM_177966, UniProtKB:Q6L8Q7 No chr3 57541882 57640704 57556247 57656480 +PA33122 5136 HGNC:8774 ENSG00000115252 phosphodiesterase 1A PDE1A phosphodiesterase 1A, calmodulin-dependent Yes No Comparative Toxicogenomics Database:5136, Ensembl:ENSG00000115252, GenAtlas:PDE1A, GeneCard:PDE1A, HGNC:HGNC:8774, HumanCyc Gene:HS03856, ModBase:Q9C0L4, NCBI Gene:5136, OMIM:171890, RefSeq DNA:NT_005403, RefSeq Protein:NP_001003683, RefSeq Protein:NP_005010, RefSeq RNA:NM_001003683, RefSeq RNA:NM_005019, UCSC Genome Browser:NM_005019, UniProtKB:P54750 No chr2 183004762 183387572 182140035 182523375 +PA33123 5153 HGNC:8775 ENSG00000123360 phosphodiesterase 1B PDE1B phosphodiesterase 1B, calmodulin-dependent PDES1B Yes No Comparative Toxicogenomics Database:5153, Ensembl:ENSG00000123360, GenAtlas:PDE1B, GeneCard:PDE1B, HGNC:HGNC:8775, HumanCyc Gene:HS04651, ModBase:Q01064, NCBI Gene:5153, OMIM:171891, RefSeq DNA:NT_029419, RefSeq Protein:NP_000915, RefSeq Protein:NP_001159447, RefSeq RNA:NM_000924, RefSeq RNA:NM_001165975, UCSC Genome Browser:NM_000924, UniProtKB:Q01064, UniProtKB:Q7Z364 No chr12 54943177 54973023 54549393 54579239 +PA33124 5137 HGNC:8776 ENSG00000154678 phosphodiesterase 1C PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa Hcam3 Yes No Comparative Toxicogenomics Database:5137, Ensembl:ENSG00000154678, GenAtlas:PDE1C, GeneCard:PDE1C, HGNC:HGNC:8776, HumanCyc Gene:HS07999, ModBase:Q14123, NCBI Gene:5137, OMIM:602987, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001177985, RefSeq Protein:NP_001177986, RefSeq Protein:NP_001177987, RefSeq Protein:NP_001177988, RefSeq Protein:NP_005011, RefSeq RNA:NM_001191056, RefSeq RNA:NM_001191057, RefSeq RNA:NM_001191058, RefSeq RNA:NM_001191059, RefSeq RNA:NM_005020, UCSC Genome Browser:NM_005020, UniProtKB:Q14123 No chr7 31791666 32339016 31616777 32428224 +PA33125 5138 HGNC:8777 ENSG00000186642 phosphodiesterase 2A PDE2A phosphodiesterase 2A, cGMP-stimulated Yes No Comparative Toxicogenomics Database:5138, Ensembl:ENSG00000186642, GenAtlas:PDE2A, GeneCard:PDE2A, HGNC:HGNC:8777, HumanCyc Gene:HS10579, ModBase:O00408, NCBI Gene:5138, OMIM:602658, RefSeq DNA:NT_167190, RefSeq Protein:NP_001137311, RefSeq Protein:NP_001139681, RefSeq Protein:NP_002590, RefSeq RNA:NM_001143839, RefSeq RNA:NM_001146209, RefSeq RNA:NM_002599, RefSeq RNA:NR_026572, UCSC Genome Browser:NM_002599, UniProtKB:O00408, UniProtKB:Q5J793, UniProtKB:Q8IW54 No chr11 72287184 72385497 72576140 72674453 +PA33126 5139 HGNC:8778 ENSG00000172572 phosphodiesterase 3A PDE3A """cGMP-inhibited 3',5'-cyclic phosphodiesterase A"", ""phosphodiesterase 3A, cGMP-inhibited""" CGI-PDE Yes Yes Ensembl:ENSG00000172572, GenAtlas:PDE3A, GeneCard:PDE3A, HGNC:HGNC:8778, HumanCyc Gene:HS10538, ModBase:Q14432, NCBI Gene:5139, OMIM:123805, RefSeq DNA:NT_009714, RefSeq Protein:NP_000912, RefSeq RNA:NM_000921, UCSC Genome Browser:NM_000921, UniProtKB:Q14432 No chr12 20522179 20840575 20369245 20684107 +PA33127 5140 HGNC:8779 ENSG00000152270 phosphodiesterase 3B PDE3B phosphodiesterase 3B, cGMP-inhibited HcGIP1 Yes No Comparative Toxicogenomics Database:5140, Ensembl:ENSG00000152270, GenAtlas:PDE3B, GeneCard:PDE3B, HGNC:HGNC:8779, HumanCyc Gene:HS07803, ModBase:Q13370, NCBI Gene:5140, OMIM:602047, RefSeq DNA:NT_009237, RefSeq Protein:NP_000913, RefSeq RNA:NM_000922, UCSC Genome Browser:NM_000922, UniProtKB:A7E2E5, UniProtKB:Q13370 No chr11 14665191 14893605 14643691 14872059 +PA33128 5141 HGNC:8780 ENSG00000065989 phosphodiesterase 4A PDE4A """phosphodiesterase 4A, cAMP-specific"", ""phosphodiesterase E2 dunce homolog (Drosophila)""" DPDE2 Yes No Comparative Toxicogenomics Database:5141, Ensembl:ENSG00000065989, GenAtlas:PDE4A, GeneCard:PDE4A, HGNC:HGNC:8780, HumanCyc Gene:HS00862, ModBase:P27815, NCBI Gene:5141, OMIM:600126, RefSeq DNA:NT_011295, RefSeq Protein:NP_001104777, RefSeq Protein:NP_001104778, RefSeq Protein:NP_001104779, RefSeq Protein:NP_006193, RefSeq RNA:NM_001111307, RefSeq RNA:NM_001111308, RefSeq RNA:NM_001111309, RefSeq RNA:NM_006202, UCSC Genome Browser:NM_006202, UniProtKB:P27815 No chr19 10527449 10580307 10416773 10469631 +PA33129 5142 HGNC:8781 ENSG00000184588 phosphodiesterase 4B PDE4B """cAMP-specific 3',5'-cyclic phosphodiesterase 4B"", ""phosphodiesterase 4B, cAMP-specific"", ""phosphodiesterase E4 dunce homolog (Drosophila)""" DPDE4 Yes Yes Comparative Toxicogenomics Database:5142, Ensembl:ENSG00000184588, GenAtlas:PDE4B, GeneCard:PDE4B, HGNC:HGNC:8781, HumanCyc Gene:HS00040, ModBase:Q07343, NCBI Gene:5142, OMIM:600127, RefSeq DNA:NT_032977, RefSeq Protein:NP_001032416, RefSeq Protein:NP_001032417, RefSeq Protein:NP_001032418, RefSeq Protein:NP_002591, RefSeq RNA:NM_001037339, RefSeq RNA:NM_001037340, RefSeq RNA:NM_001037341, RefSeq RNA:NM_002600, UCSC Genome Browser:NM_002600, UniProtKB:Q07343, UniProtKB:Q59GM8, UniProtKB:Q5TEK4, UniProtKB:Q5TEK5, UniProtKB:Q5TEK6 No chr1 66258193 66840262 65792510 66374579 +PA264 5143 HGNC:8782 ENSG00000105650 phosphodiesterase 4C PDE4C """phosphodiesterase 4C, cAMP-specific"", ""phosphodiesterase E1 dunce homolog (Drosophila)""" DPDE1 Yes Yes Comparative Toxicogenomics Database:5143, Ensembl:ENSG00000105650, GenAtlas:PDE4C, GeneCard:PDE4C, HGNC:HGNC:8782, HumanCyc Gene:HS02781, ModBase:Q08493, NCBI Gene:5143, OMIM:600128, RefSeq DNA:NT_011295, RefSeq Protein:NP_000914, RefSeq Protein:NP_001092288, RefSeq Protein:NP_001092289, RefSeq RNA:NM_000923, RefSeq RNA:NM_001098818, RefSeq RNA:NM_001098819, UCSC Genome Browser:NM_000923, UniProtKB:O43849, UniProtKB:P78505, UniProtKB:Q08493, UniProtKB:Q32MM7, UniProtKB:Q7KYS4 No chr19 18318771 18359010 18207961 18248200 +PA33130 5144 HGNC:8783 ENSG00000113448 phosphodiesterase 4D PDE4D """cAMP-specific 3',5'-cyclic phosphodiesterase 4D"", ""phosphodiesterase 4D, cAMP-specific"", ""phosphodiesterase E3 dunce homolog (Drosophila)""" DPDE3 Yes Yes Comparative Toxicogenomics Database:5144, Ensembl:ENSG00000113448, GenAtlas:PDE4D, GeneCard:PDE4D, HGNC:HGNC:8783, HumanCyc Gene:HS03683, ModBase:Q8IVD2, NCBI Gene:5144, OMIM:600129, OMIM:606799, RefSeq DNA:NT_006713, RefSeq Protein:NP_001098101, RefSeq Protein:NP_001159371, RefSeq Protein:NP_001184147, RefSeq Protein:NP_001184148, RefSeq Protein:NP_001184149, RefSeq Protein:NP_001184150, RefSeq Protein:NP_001184151, RefSeq Protein:NP_001184152, RefSeq Protein:NP_006194, RefSeq RNA:NM_001104631, RefSeq RNA:NM_001165899, RefSeq RNA:NM_001197218, RefSeq RNA:NM_001197219, RefSeq RNA:NM_001197220, RefSeq RNA:NM_001197221, RefSeq RNA:NM_001197222, RefSeq RNA:NM_001197223, RefSeq RNA:NM_006203, RefSeq RNA:XR_039820, RefSeq RNA:XR_039821, RefSeq RNA:XR_039822, RefSeq RNA:XR_108601, UCSC Genome Browser:NM_006203, UniProtKB:Q08499 No chr5 58264865 59783925 58969038 60488098 +PA33131 9659 HGNC:15580 ENSG00000178104 phosphodiesterase 4D interacting protein PDE4DIP myomegalin CMYA2, KIAA0454, KIAA0477, MMGL Yes No Comparative Toxicogenomics Database:9659, Ensembl:ENSG00000178104, GenAtlas:PDE4DIP, GeneCard:PDE4DIP, HGNC:HGNC:15580, HumanCyc Gene:HS16988, ModBase:Q86TB2, NCBI Gene:9659, OMIM:608117, RefSeq DNA:NT_167185, RefSeq Protein:NP_001002810, RefSeq Protein:NP_001002811, RefSeq Protein:NP_001002812, RefSeq Protein:NP_001182189, RefSeq Protein:NP_001182190, RefSeq Protein:NP_001185761, RefSeq Protein:NP_001185763, RefSeq Protein:NP_055459, RefSeq Protein:NP_071754, RefSeq RNA:NM_001002810, RefSeq RNA:NM_001002811, RefSeq RNA:NM_001002812, RefSeq RNA:NM_001195260, RefSeq RNA:NM_001195261, RefSeq RNA:NM_001198832, RefSeq RNA:NM_001198834, RefSeq RNA:NM_014644, RefSeq RNA:NM_022359, UCSC Genome Browser:NM_014644, UniProtKB:Q5VU43 No chr1 144851424 145076186 148808167 149051277 +PA33132 8654 HGNC:8784 ENSG00000138735 phosphodiesterase 5A PDE5A phosphodiesterase 5A, cGMP-specific Yes No Comparative Toxicogenomics Database:8654, Ensembl:ENSG00000138735, GenAtlas:PDE5A, GeneCard:PDE5A, HGNC:HGNC:8784, HumanCyc Gene:HS06542, ModBase:O76074, NCBI Gene:8654, OMIM:603310, RefSeq DNA:NT_016354, RefSeq Protein:NP_001074, RefSeq Protein:NP_236914, RefSeq Protein:NP_246273, RefSeq RNA:NM_001083, RefSeq RNA:NM_033430, RefSeq RNA:NM_033437, UCSC Genome Browser:NM_001083, UniProtKB:O76074 No chr4 120415550 120549981 119494395 119629080 +PA33133 5145 HGNC:8785 ENSG00000132915 phosphodiesterase 6A PDE6A """Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha"", ""phosphodiesterase 6A, cGMP-specific, rod, alpha"", ""retinitis pigmentosa type 43""" PDEA, RP43 Yes No Ensembl:ENSG00000132915, GenAtlas:PDE6A, GeneCard:PDE6A, HGNC:HGNC:8785, HumanCyc Gene:HS05708, ModBase:P16499, NCBI Gene:5145, OMIM:180071, RefSeq DNA:NG_009102, RefSeq DNA:NT_029289, RefSeq Protein:NP_000431, RefSeq RNA:NM_000440, UCSC Genome Browser:NM_000440, UniProtKB:P16499 No chr5 149237519 149324356 149857956 149944793 +PA33134 5158 HGNC:8786 ENSG00000133256 phosphodiesterase 6B PDE6B """congenital stationary night blindness 3, autosomal dominant"", ""phosphodiesterase 6B, cGMP-specific, rod, beta"", ""rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta""" CSNB3, CSNBAD2, PDEB, RP40, rd1 Yes No Comparative Toxicogenomics Database:5158, Ensembl:ENSG00000133256, GenAtlas:PDE6B, GeneCard:PDE6B, HGNC:HGNC:8786, HumanCyc Gene:HS05752, NCBI Gene:5158, OMIM:163500, OMIM:180072, RefSeq DNA:NG_009839, RefSeq DNA:NT_037622, RefSeq Protein:NP_000274, RefSeq Protein:NP_001138763, RefSeq Protein:NP_001138764, RefSeq RNA:NM_000283, RefSeq RNA:NM_001145291, RefSeq RNA:NM_001145292, UCSC Genome Browser:NM_000283, UniProtKB:B4DHV7, UniProtKB:B7Z9T9, UniProtKB:P35913 No chr4 619363 664681 587593 670892 +PA33135 5146 HGNC:8787 ENSG00000095464 phosphodiesterase 6C PDE6C """Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha"", ""phosphodiesterase 6C, cGMP-specific, cone, alpha prime""" ACHM5, COD4, PDEA2 Yes No Ensembl:ENSG00000095464, GenAtlas:PDE6C, GeneCard:PDE6C, HGNC:HGNC:8787, HumanCyc Gene:HS01821, ModBase:P51160, NCBI Gene:5146, OMIM:600827, OMIM:613093, RefSeq DNA:NG_016752, RefSeq DNA:NT_030059, RefSeq Protein:NP_006195, RefSeq RNA:NM_006204, UCSC Genome Browser:NM_006204, UniProtKB:P51160 No chr10 95372345 95425430 93612588 93665673 +PA33136 5147 HGNC:8788 ENSG00000156973 phosphodiesterase 6D PDE6D """phosphodiesterase 6D, cGMP-specific, rod, delta"", ""retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta""" JBTS22 Yes No Ensembl:ENSG00000156973, GenAtlas:PDE6D, GeneCard:PDE6D, HGNC:HGNC:8788, HumanCyc Gene:HS08164, NCBI Gene:5147, OMIM:602676, RefSeq DNA:NT_005403, RefSeq Protein:NP_002592, RefSeq RNA:NM_002601, UCSC Genome Browser:NM_002601, UniProtKB:O43924, UniProtKB:Q6IB24 No chr2 232597147 232645974 231732425 231781327 +PA33137 5148 HGNC:8789 ENSG00000185527 phosphodiesterase 6G PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma PDEG, RP57 Yes No Comparative Toxicogenomics Database:5148, Ensembl:ENSG00000185527, GenAtlas:PDE6G, GeneCard:PDE6G, HGNC:HGNC:8789, HumanCyc Gene:HS06576, ModBase:P18545, NCBI Gene:5148, OMIM:180073, RefSeq DNA:NG_009834, RefSeq DNA:NT_010783, RefSeq Protein:NP_002593, RefSeq RNA:NM_002602, RefSeq RNA:NR_026872, UCSC Genome Browser:NM_002602, UniProtKB:P18545 No chr17 79617489 79623607 81650459 81663418 +PA33138 5149 HGNC:8790 ENSG00000139053 phosphodiesterase 6H PDE6H """phosphodiesterase 6H, cGMP-specific, cone, gamma"", ""retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma""" Yes No Comparative Toxicogenomics Database:5149, Ensembl:ENSG00000139053, GenAtlas:PDE6H, GeneCard:PDE6H, HGNC:HGNC:8790, ModBase:Q13956, NCBI Gene:5149, OMIM:601190, OMIM:610024, RefSeq DNA:NG_016859, RefSeq DNA:NT_009714, RefSeq Protein:NP_006196, RefSeq RNA:NM_006205, UCSC Genome Browser:NM_006205, UniProtKB:Q13956 No chr12 15125956 15134799 14973022 14982697 +PA33139 5150 HGNC:8791 ENSG00000205268 phosphodiesterase 7A PDE7A high affinity cAMP-specific PDE 1 HCP1 Yes No Comparative Toxicogenomics Database:5150, Ensembl:ENSG00000205268, GenAtlas:PDE7A, GeneCard:PDE7A, HGNC:HGNC:8791, HumanCyc Gene:HS02610, ModBase:Q13946, NCBI Gene:5150, OMIM:171885, RefSeq DNA:NT_008183, RefSeq Protein:NP_001229247, RefSeq Protein:NP_002594, RefSeq Protein:NP_002595, RefSeq RNA:NM_001242318, RefSeq RNA:NM_002603, RefSeq RNA:NM_002604, UCSC Genome Browser:NM_002603, UniProtKB:Q13946 No chr8 66626569 66753969 65714334 65841734 +PA33140 27115 HGNC:8792 ENSG00000171408 phosphodiesterase 7B PDE7B Yes No Comparative Toxicogenomics Database:27115, Ensembl:ENSG00000171408, GenAtlas:PDE7B, GeneCard:PDE7B, HGNC:HGNC:8792, HumanCyc Gene:HS10299, ModBase:Q9NP56, NCBI Gene:27115, OMIM:604645, RefSeq DNA:NG_011994, RefSeq DNA:NT_025741, RefSeq Protein:NP_061818, RefSeq RNA:NM_018945, UCSC Genome Browser:NM_018945, UniProtKB:Q9NP56 No chr6 136172834 136516709 135808752 136195571 +PA33141 5151 HGNC:8793 ENSG00000073417 phosphodiesterase 8A PDE8A HsT19550 Yes No Comparative Toxicogenomics Database:5151, Ensembl:ENSG00000073417, GenAtlas:PDE8A, GeneCard:PDE8A, HGNC:HGNC:8793, HumanCyc Gene:HS01103, ModBase:O60658, NCBI Gene:5151, OMIM:602972, RefSeq DNA:NT_010274, RefSeq Protein:NP_002596, RefSeq Protein:NP_775656, RefSeq RNA:NM_002605, RefSeq RNA:NM_173454, UCSC Genome Browser:NM_002605, UniProtKB:O60658 No chr15 85523744 85682376 84980513 85139145 +PA33142 8622 HGNC:8794 ENSG00000113231 phosphodiesterase 8B PDE8B High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B Yes No Ensembl:ENSG00000113231, GenAtlas:PDE8B, GeneCard:PDE8B, HGNC:HGNC:8794, HumanCyc Gene:HS03659, ModBase:O95263, NCBI Gene:8622, OMIM:603390, OMIM:609161, RefSeq DNA:NG_023364, RefSeq DNA:NT_006713, RefSeq Protein:NP_001025022, RefSeq Protein:NP_001025023, RefSeq Protein:NP_001025024, RefSeq Protein:NP_001025025, RefSeq Protein:NP_003710, RefSeq RNA:NM_001029851, RefSeq RNA:NM_001029852, RefSeq RNA:NM_001029853, RefSeq RNA:NM_001029854, RefSeq RNA:NM_003719, UCSC Genome Browser:NM_003719, UniProtKB:B3KMJ9, UniProtKB:O95263, UniProtKB:Q3ZCW6 No chr5 76476082 76724081 77180252 77428256 +PA33143 5152 HGNC:8795 ENSG00000160191 phosphodiesterase 9A PDE9A Yes No Comparative Toxicogenomics Database:5152, Ensembl:ENSG00000160191, GenAtlas:PDE9A, GeneCard:PDE9A, HGNC:HGNC:8795, HumanCyc Gene:HS08457, ModBase:Q86WN4, NCBI Gene:5152, OMIM:602973, RefSeq DNA:NT_011515, RefSeq Protein:NP_001001567, RefSeq Protein:NP_001001568, RefSeq Protein:NP_001001569, RefSeq Protein:NP_001001570, RefSeq Protein:NP_001001571, RefSeq Protein:NP_001001572, RefSeq Protein:NP_001001573, RefSeq Protein:NP_001001574, RefSeq Protein:NP_001001575, RefSeq Protein:NP_001001576, RefSeq Protein:NP_001001577, RefSeq Protein:NP_001001578, RefSeq Protein:NP_001001579, RefSeq Protein:NP_001001580, RefSeq Protein:NP_001001581, RefSeq Protein:NP_001001582, RefSeq Protein:NP_001001583, RefSeq Protein:NP_001001584, RefSeq Protein:NP_001001585, RefSeq Protein:NP_002597, RefSeq RNA:NM_001001567, RefSeq RNA:NM_001001568, RefSeq RNA:NM_001001569, RefSeq RNA:NM_001001570, RefSeq RNA:NM_001001571, RefSeq RNA:NM_001001572, RefSeq RNA:NM_001001573, RefSeq RNA:NM_001001574, RefSeq RNA:NM_001001575, RefSeq RNA:NM_001001576, RefSeq RNA:NM_001001577, RefSeq RNA:NM_001001578, RefSeq RNA:NM_001001579, RefSeq RNA:NM_001001580, RefSeq RNA:NM_001001581, RefSeq RNA:NM_001001582, RefSeq RNA:NM_001001583, RefSeq RNA:NM_001001584, RefSeq RNA:NM_001001585, RefSeq RNA:NM_002606, UCSC Genome Browser:NM_002606, UniProtKB:O76083 No chr21 44073862 44195619 42653752 42775509 +PA144596394 64146 HGNC:30012 ENSG00000213380, ENSG00000258429 peptide deformylase, mitochondrial PDF peptide deformylase (mitochondrial) Yes No Ensembl:ENSG00000213380, Ensembl:ENSG00000258429, GeneCard:PDF, HGNC:HGNC:30012, ModBase:Q9HBH1, NCBI Gene:64146, RefSeq DNA:NT_010498, RefSeq Protein:NP_071736, RefSeq RNA:NM_022341, UniProtKB:Q9HBH1 No chr16 69362524 69364498 69328621 69330595 +PA33144 5154 HGNC:8799 ENSG00000197461 platelet derived growth factor subunit A PDGFA PDGF A-chain, platelet-derived growth factor alpha chain, platelet-derived growth factor alpha polypeptide PDGF-A, PDGF1 Yes No Comparative Toxicogenomics Database:5154, Ensembl:ENSG00000197461, GenAtlas:PDGFA, GeneCard:PDGFA, HGNC:HGNC:8799, ModBase:P04085, NCBI Gene:5154, OMIM:173430, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002598, RefSeq Protein:NP_148983, RefSeq RNA:NM_002607, RefSeq RNA:NM_033023, UCSC Genome Browser:NM_002607, UniProtKB:P04085 No chr7 536895 559481 497245 520668 +PA33145 5155 HGNC:8800 ENSG00000100311 platelet derived growth factor subunit B PDGFB becaplermin, oncogene SIS, platelet-derived growth factor beta polypeptide SIS, SSV Yes No Comparative Toxicogenomics Database:5155, Ensembl:ENSG00000100311, GenAtlas:PDGFB, GeneCard:PDGFB, HGNC:HGNC:8800, HumanCyc Gene:HS02038, ModBase:P01127, NCBI Gene:5155, OMIM:190040, RefSeq DNA:NG_012111, RefSeq DNA:NT_011520, RefSeq Protein:NP_002599, RefSeq Protein:NP_148937, RefSeq RNA:NM_002608, RefSeq RNA:NM_033016, UCSC Genome Browser:NM_002608, UniProtKB:P01127, UniProtKB:Q15354 No chr22 39619685 39640957 39223359 39245055 +PA33146 56034 HGNC:8801 ENSG00000145431 platelet derived growth factor C PDGFC SCDGF, fallotein Yes No Comparative Toxicogenomics Database:56034, Ensembl:ENSG00000145431, GenAtlas:PDGFC, GeneCard:PDGFC, HGNC:HGNC:8801, HumanCyc Gene:HS07255, ModBase:Q9NRA1, NCBI Gene:56034, OMIM:608452, RefSeq DNA:NT_016354, RefSeq Protein:NP_057289, RefSeq RNA:NM_016205, RefSeq RNA:NR_036641, UCSC Genome Browser:NM_016205, UniProtKB:Q9NRA1 No chr4 157682763 157892546 156761611 156971394 +PA134892327 80310 HGNC:30620 ENSG00000170962 platelet derived growth factor D PDGFD spinal cord derived growth factor B IEGF, MSTP036, SCDGF-B Yes No Comparative Toxicogenomics Database:80310, Ensembl:ENSG00000170962, GeneCard:PDGFD, HGNC:HGNC:30620, HumanCyc Gene:HS10221, ModBase:Q9GZP0, NCBI Gene:80310, OMIM:609673, RefSeq DNA:NT_033899, RefSeq Protein:NP_079484, RefSeq Protein:NP_149126, RefSeq RNA:NM_025208, RefSeq RNA:NM_033135, UniProtKB:Q9GZP0 No chr11 103777914 104035027 103907186 104164299 +PA33147 5156 HGNC:8803 ENSG00000134853 platelet derived growth factor receptor alpha PDGFRA platelet-derived growth factor receptor, alpha polypeptide CD140a, GAS9, PDGFR2 Yes Yes Comparative Toxicogenomics Database:5156, Ensembl:ENSG00000134853, GenAtlas:PDGFRA, GeneCard:PDGFRA, HGNC:HGNC:8803, HumanCyc Gene:HS05923, ModBase:P16234, NCBI Gene:5156, OMIM:173490, OMIM:606764, OMIM:607685, RefSeq DNA:NG_009250, RefSeq DNA:NT_022853, RefSeq Protein:NP_006197, RefSeq RNA:NM_006206, UCSC Genome Browser:NM_006206, UniProtKB:P16234 No chr4 55095264 55164412 54229097 54298245 +PA33148 5159 HGNC:8804 ENSG00000113721 platelet derived growth factor receptor beta PDGFRB platelet-derived growth factor receptor, beta polypeptide CD140b, JTK12, PDGFR, PDGFR1 Yes Yes Comparative Toxicogenomics Database:5159, Ensembl:ENSG00000113721, GenAtlas:PDGFRB, GeneCard:PDGFRB, HGNC:HGNC:8804, HumanCyc Gene:HS03710, ModBase:P09619, NCBI Gene:5159, OMIM:131440, OMIM:173410, RefSeq DNA:NG_023367, RefSeq DNA:NT_029289, RefSeq Protein:NP_002600, RefSeq RNA:NM_002609, UCSC Genome Browser:NM_002609, UniProtKB:P09619, UniProtKB:Q59F04 No chr5 149493402 149535447 150113839 150155884 +PA33149 5157 HGNC:8805 ENSG00000104213 platelet derived growth factor receptor like PDGFRL platelet-derived growth factor receptor-like PRLTS Yes No Comparative Toxicogenomics Database:5157, Ensembl:ENSG00000104213, GenAtlas:PDGFRL, GeneCard:PDGFRL, HGNC:HGNC:8805, HumanCyc Gene:HS02553, ModBase:Q15198, NCBI Gene:5157, OMIM:114500, OMIM:114550, OMIM:604584, RefSeq DNA:NG_023332, RefSeq DNA:NT_167187, RefSeq Protein:NP_006198, RefSeq RNA:NM_006207, UCSC Genome Browser:NM_006207, UniProtKB:Q15198 No chr8 17433942 17500642 17576433 17643133 +PA33150 5160 HGNC:8806 ENSG00000131828 pyruvate dehydrogenase E1 subunit alpha 1 PDHA1 """pyruvate dehydrogenase (lipoamide) alpha 1"", ""pyruvate dehydrogenase E1 alpha 1 subunit"", ""pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial""" E1alpha, PDHA Yes No Comparative Toxicogenomics Database:5160, Ensembl:ENSG00000131828, GenAtlas:PDHA1, GeneCard:PDHA1, HGNC:HGNC:8806, HumanCyc Gene:HS05573, ModBase:P08559, NCBI Gene:5160, OMIM:300502, OMIM:308930, OMIM:312170, RefSeq DNA:NG_016781, RefSeq DNA:NT_167197, RefSeq Protein:NP_000275, RefSeq Protein:NP_001166925, RefSeq Protein:NP_001166926, RefSeq Protein:NP_001166927, RefSeq RNA:NM_000284, RefSeq RNA:NM_001173454, RefSeq RNA:NM_001173455, RefSeq RNA:NM_001173456, UCSC Genome Browser:NM_000284, UniProtKB:A5YVE9, UniProtKB:B7Z3T7, UniProtKB:P08559 No chrX 19362011 19379825 19343893 19361707 +PA33151 5161 HGNC:8807 ENSG00000163114 pyruvate dehydrogenase E1 subunit alpha 2 PDHA2 pyruvate dehydrogenase (lipoamide) alpha 2, pyruvate dehydrogenase E1 alpha 2 subunit PDHAL Yes No Comparative Toxicogenomics Database:5161, Ensembl:ENSG00000163114, GenAtlas:PDHA2, GeneCard:PDHA2, HGNC:HGNC:8807, HumanCyc Gene:HS08790, ModBase:P29803, NCBI Gene:5161, OMIM:179061, RefSeq DNA:NT_016354, RefSeq Protein:NP_005381, RefSeq RNA:NM_005390, UCSC Genome Browser:NM_005390, UniProtKB:P29803 No chr4 96761239 96762625 95840088 95841474 +PA33152 5162 HGNC:8808 ENSG00000168291 pyruvate dehydrogenase E1 subunit beta PDHB pyruvate dehydrogenase (lipoamide) beta, pyruvate dehydrogenase E1 beta subunit E1beta, PDHE1B Yes No Comparative Toxicogenomics Database:5162, Ensembl:ENSG00000168291, GenAtlas:PDHB, GeneCard:PDHB, HGNC:HGNC:8808, HumanCyc Gene:HS09727, ModBase:P11177, NCBI Gene:5162, OMIM:179060, RefSeq DNA:NG_016860, RefSeq DNA:NT_022517, RefSeq Protein:NP_000916, RefSeq Protein:NP_001166939, RefSeq RNA:NM_000925, RefSeq RNA:NM_001173468, RefSeq RNA:NR_033384, UCSC Genome Browser:NM_000925, UniProtKB:B4DDD7, UniProtKB:P11177 No chr3 58413357 58419579 58427630 58433852 +PA134976445 8050 HGNC:21350 ENSG00000110435 pyruvate dehydrogenase complex component X PDHX pyruvate dehydrogenase complex, component X DLDBP, E3BP, OPDX, PDX1, proX Yes No Comparative Toxicogenomics Database:8050, Ensembl:ENSG00000110435, GeneCard:PDHX, HGNC:HGNC:21350, HumanCyc Gene:HS03310, ModBase:O00330, NCBI Gene:8050, OMIM:245349, OMIM:608769, RefSeq DNA:NG_013368, RefSeq DNA:NT_009237, RefSeq Protein:NP_001128496, RefSeq Protein:NP_001159630, RefSeq Protein:NP_003468, RefSeq RNA:NM_001135024, RefSeq RNA:NM_001166158, RefSeq RNA:NM_003477, UniProtKB:O00330 No chr11 34937677 35017675 34915829 34996128 +PA33153 64714 HGNC:14180 ENSG00000185615 protein disulfide isomerase family A member 2 PDIA2 protein disulfide isomerase family A, member 2 PDA2, PDI, PDIP, PDIR Yes Yes Comparative Toxicogenomics Database:64714, Ensembl:ENSG00000185615, GenAtlas:PDIA2, GeneCard:PDIA2, HGNC:HGNC:14180, HumanCyc Gene:HS02458, ModBase:Q13087, NCBI Gene:64714, OMIM:608012, RefSeq DNA:NT_010393, RefSeq Protein:NP_006840, RefSeq RNA:NM_006849, UCSC Genome Browser:NM_006849, UniProtKB:Q13087 No chr16 333118 337215 283118 287209 +PA29000 2923 HGNC:4606 ENSG00000167004 protein disulfide isomerase family A member 3 PDIA3 protein disulfide isomerase family A, member 3 ERp57, ERp60, ERp61, GRP57, GRP58, HsT17083, P58, PI-PLC Yes No Comparative Toxicogenomics Database:2923, Ensembl:ENSG00000167004, GenAtlas:PDIA3, GeneCard:PDIA3, HGNC:HGNC:4606, HumanCyc Gene:HS09499, ModBase:P30101, NCBI Gene:2923, OMIM:602046, RefSeq DNA:NG_005156, RefSeq DNA:NT_010194, RefSeq Protein:NP_005304, RefSeq RNA:NM_005313, UCSC Genome Browser:NM_005313, UniProtKB:P30101 No chr15 44038326 44064804 43746392 43772606 +PA142671190 9601 HGNC:30167 ENSG00000155660 protein disulfide isomerase family A member 4 PDIA4 protein disulfide isomerase family A, member 4 ERP70, ERP72 Yes No Comparative Toxicogenomics Database:9601, Ensembl:ENSG00000155660, GeneCard:PDIA4, HGNC:HGNC:30167, HumanCyc Gene:HS08062, ModBase:P13667, NCBI Gene:9601, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_004902, RefSeq RNA:NM_004911, UniProtKB:P13667 No chr7 148700154 148725782 149003054 149028690 +PA142671191 10954 HGNC:24811 ENSG00000065485 protein disulfide isomerase family A member 5 PDIA5 protein disulfide isomerase family A, member 5 FLJ30401, PDIR Yes No Comparative Toxicogenomics Database:10954, Ensembl:ENSG00000065485, GeneCard:PDIA5, HGNC:HGNC:24811, HumanCyc Gene:HS00842, ModBase:Q14554, NCBI Gene:10954, RefSeq DNA:NT_005612, RefSeq Protein:NP_006801, RefSeq RNA:NM_006810, RefSeq RNA:NR_028444, UniProtKB:Q14554 No chr3 122785856 122880953 123067009 123162106 +PA134977905 10130 HGNC:30168 ENSG00000143870 protein disulfide isomerase family A member 6 PDIA6 """protein disulfide isomerase family A, member 6"", ""protein disulfide isomerase-related protein""" ERp5, P5, TXNDC7 Yes No Comparative Toxicogenomics Database:10130, Ensembl:ENSG00000143870, GeneCard:PDIA6, HGNC:HGNC:30168, HumanCyc Gene:HS07121, ModBase:Q15084, NCBI Gene:10130, OMIM:611099, RefSeq DNA:NT_005334, RefSeq Protein:NP_005733, RefSeq RNA:NM_005742, UCSC Genome Browser:NM_005742, UniProtKB:Q15084, UniProtKB:Q53RC7 No chr2 10908889 10978103 10783391 10837977 +PA134959839 149420 HGNC:18981 ENSG00000175087 PDLIM1 interacting kinase 1 like PDIK1L CLIK1L Yes No Comparative Toxicogenomics Database:149420, Ensembl:ENSG00000175087, GeneCard:PDIK1L, HGNC:HGNC:18981, HumanCyc Gene:HS10876, ModBase:Q8N165, NCBI Gene:149420, OMIM:610785, RefSeq DNA:NT_004610, RefSeq Protein:NP_690048, RefSeq RNA:NM_152835, RefSeq RNA:NR_026685, RefSeq RNA:NR_026686, UniProtKB:Q8N165 No chr1 26437656 26452039 26109406 26125548 +PA164724442 204474 HGNC:27338 ENSG00000169340 protein disulfide isomerase like, testis expressed PDILT """protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"", ""protein disulfide isomerase-like, testis expressed""" PDIA7 Yes No Ensembl:ENSG00000169340, GeneCard:PDILT, HGNC:HGNC:27338, NCBI Gene:204474, RefSeq DNA:NT_010393, RefSeq Protein:NP_777584, RefSeq RNA:NM_174924, UniProtKB:Q8N807 No chr16 20370492 20416064 20359170 20404742 +PA33154 5163 HGNC:8809 ENSG00000152256 pyruvate dehydrogenase kinase 1 PDK1 pyruvate dehydrogenase kinase, isozyme 1 Yes No Comparative Toxicogenomics Database:5163, Ensembl:ENSG00000152256, GenAtlas:PDK1, GeneCard:PDK1, HGNC:HGNC:8809, HumanCyc Gene:HS07801, ModBase:Q15118, NCBI Gene:5163, OMIM:602524, RefSeq DNA:NT_005403, RefSeq Protein:NP_002601, RefSeq RNA:NM_002610, UCSC Genome Browser:NM_002610, UniProtKB:Q15118 No chr2 173420101 173490351 172555373 172672693 +PA33155 5164 HGNC:8810 ENSG00000005882 pyruvate dehydrogenase kinase 2 PDK2 pyruvate dehydrogenase kinase, isozyme 2 PDHK2 Yes No Comparative Toxicogenomics Database:5164, Ensembl:ENSG00000005882, GenAtlas:PDK2, GeneCard:PDK2, HGNC:HGNC:8810, HumanCyc Gene:HS00151, ModBase:Q15119, NCBI Gene:5164, OMIM:602525, RefSeq DNA:NT_010783, RefSeq Protein:NP_001186827, RefSeq Protein:NP_001186828, RefSeq Protein:NP_001186829, RefSeq Protein:NP_002602, RefSeq RNA:NM_001199898, RefSeq RNA:NM_001199899, RefSeq RNA:NM_001199900, RefSeq RNA:NM_002611, UCSC Genome Browser:NM_002611, UniProtKB:Q15119 No chr17 48172101 48188733 50094737 50111369 +PA33156 5165 HGNC:8811 ENSG00000067992 pyruvate dehydrogenase kinase 3 PDK3 pyruvate dehydrogenase kinase, isozyme 3 Yes No Comparative Toxicogenomics Database:5165, Ensembl:ENSG00000067992, GenAtlas:PDK3, GeneCard:PDK3, HGNC:HGNC:8811, HumanCyc Gene:HS00925, ModBase:Q15120, NCBI Gene:5165, OMIM:602526, RefSeq DNA:NG_016762, RefSeq DNA:NT_167197, RefSeq Protein:NP_001135858, RefSeq Protein:NP_005382, RefSeq RNA:NM_001142386, RefSeq RNA:NM_005391, UCSC Genome Browser:NM_005391, UniProtKB:B4DXG6, UniProtKB:Q15120 No chrX 24483344 24568583 24465227 24550466 +PA33157 5166 HGNC:8812 ENSG00000004799 pyruvate dehydrogenase kinase 4 PDK4 pyruvate dehydrogenase kinase, isozyme 4 Yes No Comparative Toxicogenomics Database:5166, Ensembl:ENSG00000004799, GenAtlas:PDK4, GeneCard:PDK4, HGNC:HGNC:8812, HumanCyc Gene:HS00113, ModBase:Q16654, NCBI Gene:5166, OMIM:602527, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_002603, RefSeq RNA:NM_002612, UCSC Genome Browser:NM_002612, UniProtKB:A4D1H4, UniProtKB:Q16654 No chr7 95212809 95225925 95583497 95596613 +PA33158 9124 HGNC:2067 ENSG00000107438 PDZ and LIM domain 1 PDLIM1 carboxyl terminal LIM domain protein 1, elfin CLIM1, CLP-36, CLP36, hCLIM1 Yes No Comparative Toxicogenomics Database:9124, Ensembl:ENSG00000107438, GenAtlas:PDLIM1, GeneCard:PDLIM1, HGNC:HGNC:2067, HumanCyc Gene:HS02997, ModBase:O00151, NCBI Gene:9124, OMIM:605900, RefSeq DNA:NT_030059, RefSeq Protein:NP_066272, RefSeq RNA:NM_020992, UCSC Genome Browser:NM_020992, UniProtKB:O00151 No chr10 96997325 97050905 95237568 95291148 +PA33159 64236 HGNC:13992 ENSG00000120913 PDZ and LIM domain 2 PDLIM2 PDZ and LIM domain 2 (mystique), mystique Yes No Comparative Toxicogenomics Database:64236, Ensembl:ENSG00000120913, GenAtlas:PDLIM2, GeneCard:PDLIM2, HGNC:HGNC:13992, HumanCyc Gene:HS04451, ModBase:Q96JY6, NCBI Gene:64236, OMIM:609722, RefSeq DNA:NT_167187, RefSeq Protein:NP_067643, RefSeq Protein:NP_789847, RefSeq Protein:NP_932159, RefSeq RNA:NM_021630, RefSeq RNA:NM_176871, RefSeq RNA:NM_198042, UCSC Genome Browser:NM_021630, UniProtKB:Q96JY6 No chr8 22435805 22455538 22578741 22598025 +PA134970631 27295 HGNC:20767 ENSG00000154553 PDZ and LIM domain 3 PDLIM3 ALP Yes No Comparative Toxicogenomics Database:27295, Ensembl:ENSG00000154553, GeneCard:PDLIM3, HGNC:HGNC:20767, HumanCyc Gene:HS07987, ModBase:Q53GG5, NCBI Gene:27295, OMIM:605889, RefSeq DNA:NT_016354, RefSeq Protein:NP_001107579, RefSeq Protein:NP_055291, RefSeq RNA:NM_001114107, RefSeq RNA:NM_014476, UniProtKB:Q53GG5 No chr4 186421814 186456712 185500660 185535606 +PA134869796 8572 HGNC:16501 ENSG00000131435 PDZ and LIM domain 4 PDLIM4 RIL Yes No Comparative Toxicogenomics Database:8572, Ensembl:ENSG00000131435, GeneCard:PDLIM4, HGNC:HGNC:16501, HumanCyc Gene:HS05526, ModBase:P50479, NCBI Gene:8572, OMIM:166710, OMIM:603422, RefSeq DNA:NG_015836, RefSeq DNA:NT_034772, RefSeq Protein:NP_001124499, RefSeq Protein:NP_003678, RefSeq RNA:NM_001131027, RefSeq RNA:NM_003687, UniProtKB:P50479 No chr5 131593351 131609147 132257658 132273454 +PA134917248 10611 HGNC:17468 ENSG00000163110 PDZ and LIM domain 5 PDLIM5 Enh, LIM Yes Yes Comparative Toxicogenomics Database:10611, Ensembl:ENSG00000163110, GeneCard:PDLIM5, HGNC:HGNC:17468, HumanCyc Gene:HS08789, ModBase:Q96HC4, NCBI Gene:10611, OMIM:605904, RefSeq DNA:NT_016354, RefSeq Protein:NP_001011513, RefSeq Protein:NP_001011515, RefSeq Protein:NP_001011516, RefSeq Protein:NP_006448, RefSeq RNA:NM_001011513, RefSeq RNA:NM_001011515, RefSeq RNA:NM_001011516, RefSeq RNA:NM_006457, RefSeq RNA:NR_024179, UniProtKB:A6NFZ5, UniProtKB:Q96HC4 No chr4 95373008 95589378 94451857 94668227 +PA128394546 9260 HGNC:22958 ENSG00000196923 PDZ and LIM domain 7 PDLIM7 PDZ and LIM domain 7 (enigma) ENIGMA Yes No Comparative Toxicogenomics Database:9260, Ensembl:ENSG00000196923, GeneCard:PDLIM7, HGNC:HGNC:22958, HumanCyc Gene:HS08540, ModBase:Q9NR12, NCBI Gene:9260, OMIM:605903, RefSeq DNA:NT_023133, RefSeq Protein:NP_005442, RefSeq Protein:NP_976227, RefSeq Protein:NP_998801, RefSeq RNA:NM_005451, RefSeq RNA:NM_203352, RefSeq RNA:NM_213636, UCSC Genome Browser:NM_005451, UniProtKB:Q9NR12 No chr5 176910395 176924606 177483394 177497605 +PA33607 54704 HGNC:9279 ENSG00000164951 pyruvate dehydrogenase phosphatase catalytic subunit 1 PDP1 """protein phosphatase, Mg2+/Mn2+ dependent 2A"", ""pyruvate dehyrogenase phosphatase catalytic subunit 1""" PDH, PDP, PPM2A, PPM2C Yes No Comparative Toxicogenomics Database:54704, Ensembl:ENSG00000164951, GenAtlas:PPM2C, GeneCard:PDP1, GeneCard:PPM2C, HGNC:HGNC:9279, HumanCyc Gene:HS09167, ModBase:Q9P0J1, NCBI Gene:54704, OMIM:605993, OMIM:608782, RefSeq DNA:NG_012233, RefSeq DNA:NT_008046, RefSeq Protein:NP_001155250, RefSeq Protein:NP_001155251, RefSeq Protein:NP_001155252, RefSeq Protein:NP_001155253, RefSeq Protein:NP_060914, RefSeq RNA:NM_001161778, RefSeq RNA:NM_001161779, RefSeq RNA:NM_001161780, RefSeq RNA:NM_001161781, RefSeq RNA:NM_018444, UCSC Genome Browser:NM_018444, UniProtKB:B4DYX8, UniProtKB:Q6P1N1, UniProtKB:Q9P0J1 No chr8 94929083 94938296 93916855 93926068 +PA165450460 57546 HGNC:30263 ENSG00000172840 pyruvate dehydrogenase phosphatase catalytic subunit 2 PDP2 """[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase"", ""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"", ""protein phosphatase, Mg2+/Mn2+ dependent 2B"", ""pyruvate dehyrogenase phosphatase catalytic subunit 2""" KIAA1348, PPM2B, PPM2C2 Yes No Ensembl:ENSG00000172840, GeneCard:PDP2, HGNC:HGNC:30263, HumanCyc Gene:HS11977, NCBI Gene:57546, RefSeq DNA:NT_010498, RefSeq Protein:NP_065837, RefSeq RNA:NM_020786, UniProtKB:Q9P2J9 No chr16 66914360 66925004 66880397 66891101 +PA33160 5170 HGNC:8816 ENSG00000140992 3-phosphoinositide dependent protein kinase 1 PDPK1 3-phosphoinositide dependent protein kinase-1, PkB kinase PDK1 Yes No Comparative Toxicogenomics Database:5170, Ensembl:ENSG00000140992, GenAtlas:PDPK1, GeneCard:PDPK1, HGNC:HGNC:8816, HumanCyc Gene:HS06787, ModBase:O15530, NCBI Gene:5170, OMIM:605213, RefSeq DNA:NT_010393, RefSeq Protein:NP_002604, RefSeq Protein:NP_112558, RefSeq RNA:NM_002613, RefSeq RNA:NM_031268, UCSC Genome Browser:NM_002613, UniProtKB:O15530, UniProtKB:Q9BRD5 No chr16 2587965 2653191 2537964 2603190 +PA142671187 10630 HGNC:29602 ENSG00000162493 podoplanin PDPN lung type I cell membrane associated glycoprotein D2-40, GP40, Gp38, PA2.26, T1A-2, aggrus Yes No Comparative Toxicogenomics Database:10630, Ensembl:ENSG00000162493, GeneCard:PDPN, HGNC:HGNC:29602, HumanCyc Gene:HS08683, NCBI Gene:10630, OMIM:608863, RefSeq DNA:NT_004610, RefSeq Protein:NP_001006625, RefSeq Protein:NP_001006626, RefSeq Protein:NP_006465, RefSeq Protein:NP_938203, RefSeq RNA:NM_001006624, RefSeq RNA:NM_001006625, RefSeq RNA:NM_006474, RefSeq RNA:NM_198389, UniProtKB:A8MT07, UniProtKB:Q86YL7 No chr1 13910252 13944452 13583757 13617957 +PA166048996 55066 HGNC:30264 ENSG00000090857 pyruvate dehydrogenase phosphatase regulatory subunit PDPR PDP3 Yes No Ensembl:ENSG00000090857, HGNC:HGNC:30264, NCBI Gene:55066 No chr16 70147529 70196437 70113626 70163630 +PA25667 81572 HGNC:16119 ENSG00000088356 p53 and DNA damage regulated 1 PDRG1 p53 and DNA-damage regulated 1 C20orf126, dJ310O13.3 Yes No Ensembl:ENSG00000088356, GenAtlas:PDRG1, GeneCard:PDRG1, HGNC:HGNC:16119, HumanCyc Gene:HS12305, ModBase:Q9NUG6, NCBI Gene:81572, OMIM:610789, RefSeq DNA:NT_011362, RefSeq Protein:NP_110442, RefSeq RNA:NM_030815, UCSC Genome Browser:NM_030815, UniProtKB:Q9NUG6 No chr20 30532758 30556513 31944955 31952080 +PA162399027 23244 HGNC:29088 ENSG00000121892 PDS5 cohesin associated factor A PDS5A PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) KIAA0648, PIG54, SCC-112 Yes No Ensembl:ENSG00000121892, GeneCard:PDS5A, HGNC:HGNC:29088, HumanCyc Gene:HS12328, ModBase:Q29RF7, NCBI Gene:23244, OMIM:613200, RefSeq DNA:NG_021172, RefSeq DNA:NT_016297, RefSeq Protein:NP_001093869, RefSeq Protein:NP_001093870, RefSeq Protein:NP_056015, RefSeq RNA:NM_001100399, RefSeq RNA:NM_001100400, RefSeq RNA:NM_015200, UniProtKB:Q29RF7 No chr4 39824483 39979576 39822863 39977956 +PA162399098 23047 HGNC:20418 ENSG00000083642 PDS5 cohesin associated factor B PDS5B PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) APRIN, AS3, CG008, FLJ23236, KIAA0979 Yes No Ensembl:ENSG00000083642, GeneCard:PDS5B, HGNC:HGNC:20418, ModBase:Q9NTI5, NCBI Gene:23047, OMIM:605333, RefSeq DNA:NG_021308, RefSeq DNA:NT_024524, RefSeq Protein:NP_055847, RefSeq RNA:NM_015032, UniProtKB:Q9NTI5 No chr13 33160564 33352158 32586427 32778020 +PA134982512 23590 HGNC:17759 ENSG00000148459 decaprenyl diphosphate synthase subunit 1 PDSS1 """coenzyme Q1 homolog (yeast)"", ""prenyl (decaprenyl) diphosphate synthase, subunit 1""" COQ1, COQ1A, TPRT, TPT Yes No Comparative Toxicogenomics Database:23590, Ensembl:ENSG00000148459, GeneCard:PDSS1, HGNC:HGNC:17759, HumanCyc Gene:HS07530, ModBase:Q5T2R2, NCBI Gene:23590, OMIM:607426, OMIM:607429, RefSeq DNA:NG_008972, RefSeq DNA:NT_008705, RefSeq Protein:NP_055132, RefSeq RNA:NM_014317, UniProtKB:Q5T2R2 No chr10 26986353 27035727 26697052 26746798 +PA134957167 57107 HGNC:23041 ENSG00000164494 decaprenyl diphosphate synthase subunit 2 PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 C6orf210, COQ1B, bA59I9.3 Yes No Comparative Toxicogenomics Database:57107, Ensembl:ENSG00000164494, GeneCard:PDSS2, HGNC:HGNC:23041, HumanCyc Gene:HS15203, ModBase:Q86YH6, NCBI Gene:57107, OMIM:607426, OMIM:610564, RefSeq DNA:NG_013033, RefSeq DNA:NT_025741, RefSeq Protein:NP_065114, RefSeq RNA:NM_020381, UniProtKB:Q86YH6 No chr6 107473761 107780779 107152557 107459683 +PA162399173 3651 HGNC:6107 ENSG00000139515 pancreatic and duodenal homeobox 1 PDX1 Glucose-sensitive factor, Islet/duodenum homeobox-1, insulin upstream factor 1, somatostatin transcription factor 1 GSF, IDX-1, IPF1, IUF-1, MODY4, PDX-1, STF-1 Yes No Ensembl:ENSG00000139515, GeneCard:PDX1, HGNC:HGNC:6107, HumanCyc Gene:HS06625, ModBase:P52945, NCBI Gene:3651, OMIM:125853, OMIM:260370, OMIM:600733, OMIM:606392, RefSeq DNA:NG_008183, RefSeq DNA:NT_024524, RefSeq Protein:NP_000200, RefSeq RNA:NM_000209, UniProtKB:P52945 No chr13 28494168 28500451 27919982 27926314 +PA162399182 23042 HGNC:28995 ENSG00000179889 pyridoxal dependent decarboxylase domain containing 1 PDXDC1 pyridoxal-dependent decarboxylase domain containing 1 KIAA0251 Yes No Ensembl:ENSG00000179889, GeneCard:PDXDC1, HGNC:HGNC:28995, ModBase:Q6P996, NCBI Gene:23042, RefSeq DNA:NT_010393, RefSeq Protein:NP_055842, RefSeq RNA:NM_015027, UniProtKB:Q6P996 No chr16 15068448 15131552 14974591 15139410 +PA33162 8566 HGNC:8819 ENSG00000160209 pyridoxal kinase PDXK """pyridoxal (pyridoxine, vitamin B6) kinase"", ""pyridoxine kinase""" C21orf124, C21orf97, FLJ21324, FLJ31940, MGC15873, PKH, PNK, PRED79 Yes No Comparative Toxicogenomics Database:8566, Ensembl:ENSG00000160209, GenAtlas:PDXK, GeneCard:PDXK, HGNC:HGNC:8819, HumanCyc Gene:HS08466, ModBase:O00764, NCBI Gene:8566, OMIM:179020, RefSeq DNA:NT_011515, RefSeq Protein:NP_003672, RefSeq RNA:NM_003681, UCSC Genome Browser:NM_003681, UniProtKB:O00764 No chr21 45138978 45182188 43719097 43762307 +PA134882132 57026 HGNC:30259 ENSG00000241360 pyridoxal phosphatase PDXP """chronophin"", ""pyridoxal (pyridoxine, vitamin B6) phosphatase""" CIN, FLJ32703, dJ37E16.5 Yes No Comparative Toxicogenomics Database:57026, Ensembl:ENSG00000241360, GeneCard:PDXP, HGNC:HGNC:30259, ModBase:Q96GD0, NCBI Gene:57026, OMIM:609246, RefSeq DNA:NT_011520, RefSeq Protein:NP_064711, RefSeq RNA:NM_020315, UniProtKB:Q96GD0 No chr22 38054737 38062939 37658730 37666932 +PA33163 5173 HGNC:8820 ENSG00000101327 prodynorphin PDYN beta-neoendorphin, dynorphin, leu-enkephalin, leumorphin, neoendorphin-dynorphin-enkephalin prepropeptide, preproenkephalin B, rimorphin ADCA, PENKB, SCA23 Yes Yes Comparative Toxicogenomics Database:5173, Ensembl:ENSG00000101327, GenAtlas:PDYN, GeneCard:PDYN, HGNC:HGNC:8820, HumanCyc Gene:HS02242, NCBI Gene:5173, OMIM:131340, RefSeq DNA:NT_011387, RefSeq Protein:NP_001177821, RefSeq Protein:NP_001177827, RefSeq Protein:NP_001177828, RefSeq Protein:NP_001177829, RefSeq Protein:NP_077722, RefSeq RNA:NM_001190892, RefSeq RNA:NM_001190898, RefSeq RNA:NM_001190899, RefSeq RNA:NM_001190900, RefSeq RNA:NM_024411, UCSC Genome Browser:NM_024411, UniProtKB:P01213 No chr20 1959402 1974931 1978756 1994285 +PA134968632 51248 HGNC:28034 ENSG00000120509 PDZ domain containing 11 PDZD11 PDZK11 Yes No Comparative Toxicogenomics Database:51248, Ensembl:ENSG00000120509, GeneCard:PDZD11, HGNC:HGNC:28034, HumanCyc Gene:HS04406, ModBase:Q5EBL8, NCBI Gene:51248, OMIM:300632, RefSeq DNA:NT_011669, RefSeq Protein:NP_057568, RefSeq RNA:NM_016484, UniProtKB:Q5EBL8 No chrX 69506211 69509798 70286361 70290040 +PA33164 23037 HGNC:18486 ENSG00000133401 PDZ domain containing 2 PDZD2 KIAA0300, PDZK3 Yes No Comparative Toxicogenomics Database:23037, Ensembl:ENSG00000133401, GenAtlas:PDZD2, GeneCard:PDZD2, HGNC:HGNC:18486, HumanCyc Gene:HS05760, ModBase:O15018, NCBI Gene:23037, OMIM:610697, RefSeq DNA:NT_006576, RefSeq Protein:NP_835260, RefSeq RNA:NM_178140, UCSC Genome Browser:NM_015022, UniProtKB:O15018 No chr5 31639345 32111038 31639388 32110932 +PA134896313 57595 HGNC:21167 ENSG00000067840 PDZ domain containing 4 PDZD4 FLJ34125, KIAA1444, LNX5, LU1, PDZK4, PDZRN4L Yes No Ensembl:ENSG00000067840, GeneCard:PDZD4, HGNC:HGNC:21167, ModBase:Q76G19, NCBI Gene:57595, OMIM:300634, RefSeq DNA:NT_167198, RefSeq Protein:NP_115901, RefSeq RNA:NM_032512, UniProtKB:Q76G19 No chrX 153067621 153096022 153802166 153830567 +PA142671189 79955 HGNC:26257 ENSG00000186862 PDZ domain containing 7 PDZD7 DFNB57, FLJ23209, PDZK7, bA108L7.8 Yes No Comparative Toxicogenomics Database:79955, Ensembl:ENSG00000186862, GeneCard:PDZD7, HGNC:HGNC:26257, HumanCyc Gene:HS03030, ModBase:Q9H5P4, NCBI Gene:79955, OMIM:612971, RefSeq DNA:NT_030059, RefSeq Protein:NP_001182192, RefSeq Protein:NP_079171, RefSeq RNA:NM_001195263, RefSeq RNA:NM_024895, UniProtKB:Q9H5P4 No chr10 102767440 102790914 101007683 101031157 +PA134916380 118987 HGNC:26974 ENSG00000165650 PDZ domain containing 8 PDZD8 FLJ34427, PDZK8, bA129M16.2 Yes No Ensembl:ENSG00000165650, GeneCard:PDZD8, HGNC:HGNC:26974, ModBase:Q8NEN9, NCBI Gene:118987, RefSeq DNA:NT_030059, RefSeq Protein:NP_776152, RefSeq RNA:NM_173791, UniProtKB:Q8NEN9 No chr10 119029936 119134951 117280489 117375467 +PA165450481 255762 HGNC:28740 ENSG00000155714 PDZ domain containing 9 PDZD9 C16orf65, MGC50721 Yes No Ensembl:ENSG00000155714, GeneCard:PDZD9, HGNC:HGNC:28740, NCBI Gene:255762, RefSeq DNA:NT_010393, RefSeq Protein:NP_776167, RefSeq RNA:NM_001370530, RefSeq RNA:NM_173806, UniProtKB:Q8IXQ8 No chr16 21995186 22012431 21957540 22001137 +PA33165 5174 HGNC:8821 ENSG00000174827 PDZ domain containing 1 PDZK1 C-terminal-linking and modulating protein, CFTR-associated protein of 70 kDa, Na(+)/H(+) exchange regulatory cofactor 3, Na/Pi cotransporter C-terminal-associated protein 1 CAP70, CLAMP, NHERF3, NaPi-Cap1, PDZD1 Yes Yes Comparative Toxicogenomics Database:5174, Ensembl:ENSG00000174827, GenAtlas:PDZK1, GeneCard:PDZK1, HGNC:HGNC:8821, HumanCyc Gene:HS10835, ModBase:Q5T2W1, NCBI Gene:5174, OMIM:603831, RefSeq DNA:NT_167185, RefSeq Protein:NP_001188254, RefSeq Protein:NP_001188255, RefSeq Protein:NP_002605, RefSeq RNA:NM_001201325, RefSeq RNA:NM_001201326, RefSeq RNA:NM_002614, UCSC Genome Browser:NM_002614, UniProtKB:Q5T2W1 No chr1 145727662 145764207 145670852 145707507 +PA142671188 10158 HGNC:16887 ENSG00000162366 PDZK1 interacting protein 1 PDZK1IP1 DD96, MAP17, SPAP Yes No Comparative Toxicogenomics Database:10158, Ensembl:ENSG00000162366, GeneCard:PDZK1IP1, HGNC:HGNC:16887, HumanCyc Gene:HS08661, NCBI Gene:10158, OMIM:607178, RefSeq DNA:NT_032977, RefSeq Protein:NP_005755, RefSeq RNA:NM_005764, UniProtKB:Q13113 No chr1 47649261 47655771 47183589 47190099 +PA134931098 23024 HGNC:17704 ENSG00000121440 PDZ domain containing ring finger 3 PDZRN3 likely ortholog of mouse semaF cytoplasmic domain associated protein 3 KIAA1095, LNX3, SEMACAP3, SEMCAP3 Yes Yes Ensembl:ENSG00000121440, GeneCard:PDZRN3, HGNC:HGNC:17704, ModBase:Q9UPQ7, NCBI Gene:23024, OMIM:609729, RefSeq DNA:NT_022459, RefSeq Protein:NP_055824, RefSeq RNA:NM_015009, UniProtKB:Q9UPQ7 No chr3 73431582 73674072 73382430 73625003 +PA134974780 29951 HGNC:30552 ENSG00000165966 PDZ domain containing ring finger 4 PDZRN4 similar to semaF cytoplasmic domain associated protein 3 DKFZp434B0417, FLJ33777, IMAGE5767589, LNX4 Yes No Ensembl:ENSG00000165966, GeneCard:PDZRN4, HGNC:HGNC:30552, HumanCyc Gene:HS15388, NCBI Gene:29951, OMIM:609730, RefSeq DNA:NT_029419, RefSeq Protein:NP_001158067, RefSeq Protein:NP_037509, RefSeq RNA:NM_001164595, RefSeq RNA:NM_013377, UniProtKB:B4DGD1, UniProtKB:Q6ZMN7 No chr12 41582250 41968392 41188448 41574590 +PA33166 8682 HGNC:8822 ENSG00000162734 proliferation and apoptosis adaptor protein 15 PEA15 """Phosphoprotein enriched in astrocytes, 15kD"", ""Phosphoprotein enriched in diabetes"", ""homolog of mouse MAT-1 oncogene"", ""phosphoprotein enriched in astrocytes 15""" HMAT1, HUMMAT1H, MAT1, MAT1H, PEA-15, PED, PED-PEA15, PED/PEA15 Yes No Comparative Toxicogenomics Database:8682, Ensembl:ENSG00000162734, GenAtlas:PEA15, GeneCard:PEA15, HGNC:HGNC:8822, HumanCyc Gene:HS08730, ModBase:Q15121, NCBI Gene:8682, OMIM:603434, RefSeq DNA:NT_004487, RefSeq Protein:NP_003759, RefSeq RNA:NM_003768, UCSC Genome Browser:NM_003768, UniProtKB:B1AKZ4, UniProtKB:Q15121 No chr1 160175125 160185162 160205319 160215376 +PA166123722 79834 HGNC:29431 ENSG00000173517 pseudopodium enriched atypical kinase 1 PEAK1 pseudopodium-enriched atypical kinase 1 KIAA2002, sgk269 Yes No Ensembl:ENSG00000173517, HGNC:HGNC:29431, NCBI Gene:79834, RefSeq DNA:NT_010194, RefSeq Protein:NP_079052, RefSeq Protein:XP_370878, RefSeq Protein:XP_940171, RefSeq Protein:XP_943831, RefSeq Protein:XP_948929, RefSeq RNA:NM_024776, RefSeq RNA:XM_370878, RefSeq RNA:XM_935078, RefSeq RNA:XM_938738, RefSeq RNA:XM_943836 No chr15 +PA134922698 374872 HGNC:24793 ENSG00000188305 PEAK family member 3 PEAK3 chromosome 19 open reading frame 35 C19orf35, FLJ45778 Yes No Ensembl:ENSG00000188305, GeneCard:C19orf35, HGNC:HGNC:24793, ModBase:Q6ZS72, NCBI Gene:374872, RefSeq DNA:NT_011255, RefSeq Protein:NP_940934, RefSeq RNA:NM_198532, UniProtKB:Q6ZS72 No chr19 2274631 2282181 2274632 2282182 +PA162399233 375033 HGNC:33631 ENSG00000187800 platelet endothelial aggregation receptor 1 PEAR1 FLJ00193, MEGF12 Yes Yes Ensembl:ENSG00000187800, GeneCard:PEAR1, HGNC:HGNC:33631, ModBase:Q5VY43, NCBI Gene:375033, OMIM:610278, RefSeq DNA:NT_004487, RefSeq Protein:NP_001073940, RefSeq RNA:NM_001080471, UniProtKB:Q5VY43 No chr1 156863496 156886226 156893697 156916434 +PA32968 5037 HGNC:8630 ENSG00000089220 phosphatidylethanolamine binding protein 1 PEBP1 Raf kinase inhibitory protein, hippocampal cholinergic neurostimulating peptide HCNP, PBP, PEBP, RKIP Yes No Comparative Toxicogenomics Database:5037, Ensembl:ENSG00000089220, GenAtlas:PEBP1, GeneCard:PEBP1, HGNC:HGNC:8630, HumanCyc Gene:HS01644, ModBase:P30086, NCBI Gene:5037, OMIM:604591, RefSeq DNA:NT_009775, RefSeq Protein:NP_002558, RefSeq RNA:NM_002567, UCSC Genome Browser:NM_002567, UniProtKB:P30086 No chr12 118573668 118583390 118135884 118145588 +PA134949511 326614 HGNC:20054 ENSG00000259059 phosphatidylethanolamine binding protein 1 pseudogene 1 PEBP1P1 Yes No Ensembl:ENSG00000259059, HGNC:HGNC:20054, NCBI Gene:326614, RefSeq DNA:NG_002604, RefSeq DNA:NT_026437 No chr14 96889265 96890634 96422928 96424297 +PA165585814 157310 HGNC:28319 ENSG00000134020 phosphatidylethanolamine binding protein 4 PEBP4 cousin-of-RKIP 1 protein, phosphatidylethanolamine-binding protein 4 CORK1, MGC22776, hPEBP4 Yes Yes Ensembl:ENSG00000134020, GeneCard:PEBP4, HGNC:HGNC:28319, HumanCyc Gene:HS13506, NCBI Gene:157310, OMIM:612473, RefSeq DNA:NT_167187, RefSeq Protein:NP_659399, RefSeq RNA:NM_144962, UniProtKB:Q96S96 No chr8 22570765 22785491 22713251 22941095 +PA33167 5175 HGNC:8823 ENSG00000261371 platelet and endothelial cell adhesion molecule 1 PECAM1 CD31 antigen, platelet/endothelial cell adhesion molecule 1 CD31 Yes No Comparative Toxicogenomics Database:5175, Ensembl:ENSG00000261371, GenAtlas:PECAM1, GeneCard:PECAM1, HGNC:HGNC:8823, ModBase:Q9NQS9, NCBI Gene:5175, OMIM:173445, RefSeq DNA:NT_010783, RefSeq Protein:NP_000433, RefSeq RNA:NM_000442, UCSC Genome Browser:NM_000442, UniProtKB:P16284 No chr17 62396775 62404856 64319415 64413844 +PA134967510 55825 HGNC:18281 ENSG00000115425 peroxisomal trans-2-enoyl-CoA reductase PECR short chain dehydrogenase/reductase family 29C, member 1 HSA250303, SDR29C1, TERP Yes No Comparative Toxicogenomics Database:55825, Ensembl:ENSG00000115425, GeneCard:PECR, HGNC:HGNC:18281, HumanCyc Gene:HS03889, ModBase:Q9BY49, NCBI Gene:55825, OMIM:605843, RefSeq DNA:NT_005403, RefSeq Protein:NP_060911, RefSeq RNA:NM_018441, UniProtKB:Q9BY49 No chr2 216903111 216946539 216029088 216081823 +PA166352044 387521 HGNC:16735 plasmanylethanolamine desaturase 1 PEDS1 CarF homolog CarF, Kua, TMEM189 Yes No HGNC:HGNC:16735, NCBI Gene:387521 No 0 0 0 0 +PA142671184 553115 HGNC:30009 ENSG00000162517 penta-EF-hand domain containing 1 PEF1 peflin PEF1A Yes No Comparative Toxicogenomics Database:553115, Ensembl:ENSG00000162517, GeneCard:PEF1, HGNC:HGNC:30009, ModBase:Q9UBV8, NCBI Gene:553115, OMIM:610033, RefSeq DNA:NT_032977, RefSeq Protein:NP_036524, RefSeq RNA:NM_001359651, RefSeq RNA:NM_012392, RefSeq RNA:NR_033686, UniProtKB:Q9UBV8 No chr1 32095463 32110838 31629862 31645237 +PA33170 23089 HGNC:14005 ENSG00000242265 paternally expressed 10 PEG10 Sushi-Ichi retrotransposon homolog 1, mammalian retrotransposon-derived 2, retrotransposon Gag like 2 HB-1, KIAA1051, MEF3L, Mar2, Mart2, RGAG3, RTL2, SIRH1 Yes No Comparative Toxicogenomics Database:23089, Ensembl:ENSG00000242265, GenAtlas:PEG10, GeneCard:PEG10, HGNC:HGNC:14005, NCBI Gene:23089, OMIM:609810, RefSeq DNA:NG_011340, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001035242, RefSeq Protein:NP_001165908, RefSeq Protein:NP_001165909, RefSeq Protein:NP_001171890, RefSeq Protein:NP_001171891, RefSeq Protein:NP_055883, RefSeq RNA:NM_001040152, RefSeq RNA:NM_001172437, RefSeq RNA:NM_001172438, RefSeq RNA:NM_001184961, RefSeq RNA:NM_001184962, RefSeq RNA:NM_015068, UCSC Genome Browser:NM_015068, UniProtKB:B4DSP0, UniProtKB:Q86TG7 No chr7 94285637 94299007 94656325 94669695 +PA33171 5178 HGNC:8826 ENSG00000198300 paternally expressed 3 PEG3 KIAA0287, ZKSCAN22, ZNF904, ZSCAN24 Yes No Comparative Toxicogenomics Database:5178, Ensembl:ENSG00000198300, GenAtlas:PEG3, GeneCard:PEG3, HGNC:HGNC:8826, ModBase:Q9GZU2, NCBI Gene:5178, OMIM:601483, RefSeq DNA:NG_012989, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139656, RefSeq Protein:NP_001139657, RefSeq Protein:NP_001139658, RefSeq Protein:NP_001139659, RefSeq Protein:NP_006201, RefSeq RNA:NM_001146184, RefSeq RNA:NM_001146185, RefSeq RNA:NM_001146186, RefSeq RNA:NM_001146187, RefSeq RNA:NM_006210, UCSC Genome Browser:NM_006210, UniProtKB:A7E2B8, UniProtKB:B4DIM4, UniProtKB:Q96Q96, UniProtKB:Q9GZU2 No chr19 57285730 57352121 56810077 56840726 +PA164724443 100169890 HGNC:35127 PEG3 antisense RNA 1 PEG3-AS1 antisense PEG3 transcript, non-protein coding RNA 155 APEG3, NCRNA00155 Yes No GeneCard:PEG3-AS1, HGNC:HGNC:35127, NCBI Gene:100169890, RefSeq DNA:NT_011109, RefSeq RNA:NR_023847 No chr19 57323848 57325161 56812480 56813793 +PA33172 57162 HGNC:8827 ENSG00000197329 pellino E3 ubiquitin protein ligase 1 PELI1 Yes No Comparative Toxicogenomics Database:57162, Ensembl:ENSG00000197329, GenAtlas:PELI1, GeneCard:PELI1, HGNC:HGNC:8827, ModBase:Q96FA3, NCBI Gene:57162, RefSeq DNA:NT_022184, RefSeq Protein:NP_065702, RefSeq RNA:NM_020651, UCSC Genome Browser:NM_020651, UniProtKB:Q53T26, UniProtKB:Q96FA3 No chr2 64319786 64371605 64092652 64144471 +PA33173 57161 HGNC:8828 ENSG00000139946 pellino E3 ubiquitin protein ligase family member 2 PELI2 Yes No Comparative Toxicogenomics Database:57161, Ensembl:ENSG00000139946, GenAtlas:PELI2, GeneCard:PELI2, HGNC:HGNC:8828, HumanCyc Gene:HS13806, NCBI Gene:57161, RefSeq DNA:NT_026437, RefSeq Protein:NP_067078, RefSeq RNA:NM_021255, UCSC Genome Browser:NM_021255, UniProtKB:Q9HAT8 No chr14 56585039 56768241 56118330 56301586 +PA142671185 246330 HGNC:30010 ENSG00000174516 pellino E3 ubiquitin protein ligase family member 3 PELI3 MGC35521 Yes No Ensembl:ENSG00000174516, GeneCard:PELI3, HGNC:HGNC:30010, HumanCyc Gene:HS16357, ModBase:Q8N2H9, NCBI Gene:246330, OMIM:609827, RefSeq DNA:NT_167190, RefSeq Protein:NP_001091980, RefSeq Protein:NP_659502, RefSeq RNA:NM_001098510, RefSeq RNA:NM_145065, UniProtKB:Q8N2H9 No chr11 66233798 66244808 66466327 66477337 +PA33174 53918 HGNC:8829 ENSG00000152684 pelota mRNA surveillance and ribosome rescue factor PELO pelota homolog (Drosophila) Yes No Comparative Toxicogenomics Database:53918, Ensembl:ENSG00000152684, GenAtlas:PELO, GeneCard:PELO, HGNC:HGNC:8829, HumanCyc Gene:HS07269, ModBase:Q9BRX2, NCBI Gene:53918, OMIM:605757, RefSeq DNA:NG_002793, RefSeq DNA:NT_006713, RefSeq Protein:NP_057030, RefSeq RNA:NM_015946, UCSC Genome Browser:NM_015946, UniProtKB:Q9BRX2 No chr5 52083774 52098451 52787940 52802617 +PA142671186 27043 HGNC:30134 ENSG00000141456 proline, glutamate and leucine rich protein 1 PELP1 MNAR Yes No Comparative Toxicogenomics Database:27043, Ensembl:ENSG00000141456, GeneCard:PELP1, HGNC:HGNC:30134, HumanCyc Gene:HS06832, ModBase:Q8IZL8, NCBI Gene:27043, OMIM:609455, RefSeq DNA:NT_010718, RefSeq Protein:NP_055204, RefSeq RNA:NM_014389, UniProtKB:Q8IZL8 No chr17 4574679 4607712 4671384 4704337 +PA33175 10400 HGNC:8830 ENSG00000133027 phosphatidylethanolamine N-methyltransferase PEMT PEMPT, PEMT2 Yes Yes Comparative Toxicogenomics Database:10400, Ensembl:ENSG00000133027, GenAtlas:PEMT, GeneCard:PEMT, HGNC:HGNC:8830, HumanCyc Gene:HS05721, ModBase:Q9UBM1, NCBI Gene:10400, OMIM:602391, RefSeq DNA:NT_010718, RefSeq Protein:NP_009100, RefSeq Protein:NP_680477, RefSeq Protein:NP_680478, RefSeq RNA:NM_007169, RefSeq RNA:NM_148172, RefSeq RNA:NM_148173, UCSC Genome Browser:NM_007169, UniProtKB:Q9UBM1 No chr17 17408877 17495434 17505561 17591703 +PA33176 5179 HGNC:8831 ENSG00000181195 proenkephalin PENK preproenkephalin Yes No Comparative Toxicogenomics Database:5179, Ensembl:ENSG00000181195, GenAtlas:PENK, GeneCard:PENK, HGNC:HGNC:8831, HumanCyc Gene:HS11586, NCBI Gene:5179, OMIM:131330, RefSeq DNA:NT_008183, RefSeq Protein:NP_001129162, RefSeq Protein:NP_006202, RefSeq RNA:NM_001135690, RefSeq RNA:NM_006211, UCSC Genome Browser:NM_006211, UniProtKB:P01210 No chr8 57353513 57359282 56440954 56446734 +PA33179 5182 HGNC:8838 peptidase B PEPB Yes No GenAtlas:PEPB, GeneCard:PEPB, HGNC:HGNC:8838, NCBI Gene:5182, OMIM:169900 No chr12 +PA33180 5183 HGNC:8839 peptidase C PEPC Yes No GenAtlas:PEPC, GeneCard:PEPC, HGNC:HGNC:8839, NCBI Gene:5183, OMIM:170000 No chr1 +PA33181 5184 HGNC:8840 ENSG00000124299 peptidase D PEPD Xaa-Pro dipeptidase, imidodipeptidase, prolidase Yes No Comparative Toxicogenomics Database:5184, Ensembl:ENSG00000124299, GenAtlas:PEPD, GeneCard:PEPD, HGNC:HGNC:8840, HumanCyc Gene:HS04757, ModBase:P12955, NCBI Gene:5184, OMIM:170100, OMIM:613230, RefSeq DNA:NG_013358, RefSeq DNA:NT_011109, RefSeq Protein:NP_000276, RefSeq Protein:NP_001159528, RefSeq Protein:NP_001159529, RefSeq RNA:NM_000285, RefSeq RNA:NM_001166056, RefSeq RNA:NM_001166057, UCSC Genome Browser:NM_000285, UniProtKB:A8MX47, UniProtKB:B4DDB7, UniProtKB:P12955 No chr19 33877855 34012799 33386949 33521893 +PA33182 5185 HGNC:8841 peptidase E PEPE Yes No GenAtlas:PEPE, GeneCard:PEPE, HGNC:HGNC:8841, NCBI Gene:5185, OMIM:170200 No chr17 +PA33184 5187 HGNC:8845 ENSG00000179094 period circadian regulator 1 PER1 period circadian clock 1 PER, RIGUI Yes No Comparative Toxicogenomics Database:5187, Ensembl:ENSG00000179094, GenAtlas:PER1, GeneCard:PER1, HGNC:HGNC:8845, HumanCyc Gene:HS11350, ModBase:O15534, NCBI Gene:5187, OMIM:602260, RefSeq DNA:NT_010718, RefSeq Protein:NP_002607, RefSeq RNA:NM_002616, UCSC Genome Browser:NM_002616, UniProtKB:O15534 No chr17 8043788 8059723 8140470 8156405 +PA33185 8864 HGNC:8846 ENSG00000132326 period circadian regulator 2 PER2 period circadian clock 2 KIAA0347 Yes Yes Comparative Toxicogenomics Database:8864, Ensembl:ENSG00000132326, GenAtlas:PER2, GeneCard:PER2, HGNC:HGNC:8846, HumanCyc Gene:HS05618, ModBase:O15055, NCBI Gene:8864, OMIM:603426, OMIM:604348, RefSeq DNA:NG_012146, RefSeq DNA:NT_005120, RefSeq Protein:NP_073728, RefSeq RNA:NM_022817, UCSC Genome Browser:NM_003894, UniProtKB:O15055 No chr2 239152679 239198678 238244038 238290102 +PA33186 8863 HGNC:8847 ENSG00000049246 period circadian regulator 3 PER3 period circadian clock 3 Yes Yes Comparative Toxicogenomics Database:8863, Ensembl:ENSG00000049246, GenAtlas:PER3, GeneCard:PER3, HGNC:HGNC:8847, HumanCyc Gene:HS00616, ModBase:P56645, NCBI Gene:8863, OMIM:603427, RefSeq DNA:NT_021937, RefSeq Protein:NP_058515, RefSeq RNA:NM_016831, UCSC Genome Browser:NM_016831, UniProtKB:A2I2N5, UniProtKB:P56645 No chr1 7844413 7905241 7784285 7845181 +PA166352045 105371045 HGNC:52293 proline and glutamate rich with coiled coil 1 PERCC1 Yes No HGNC:HGNC:52293, NCBI Gene:105371045 No 0 0 0 0 +PA142672419 84808 HGNC:28208 ENSG00000187642 PPARGC1 and ESRR induced regulator, muscle 1 PERM1 PGC-1- and ERR-induced regulator in muscle 1, chromosome 1 open reading frame 170 C1orf170, MGC13275, Perm1, RP11-54O7.8 Yes No Ensembl:ENSG00000187642, GeneCard:C1orf170, HGNC:HGNC:28208, NCBI Gene:84808, RefSeq DNA:NT_004350, RefSeq RNA:NR_027693, RefSeq RNA:XR_039825, RefSeq RNA:XR_039826, RefSeq RNA:XR_039827 No chr1 910579 917473 975198 982117 +PA134944221 64065 HGNC:17637 ENSG00000112378 p53 apoptosis effector related to PMP22 PERP """PERP, TP53 apoptosis effector"", ""keratinocyte associated protein 1""" KCP1, KRTCAP1, PIGPC1, THW, dJ496H19.1 Yes Yes Comparative Toxicogenomics Database:64065, Ensembl:ENSG00000112378, GeneCard:PERP, HGNC:HGNC:17637, HumanCyc Gene:HS12772, NCBI Gene:64065, OMIM:609301, RefSeq DNA:NT_025741, RefSeq Protein:NP_071404, RefSeq RNA:NM_022121, UniProtKB:Q96FX8 No chr6 138409642 138428660 138088505 138107523 +PA33190 23481 HGNC:8848 ENSG00000100029 pescadillo ribosomal biogenesis factor 1 PES1 NOP7, PES Yes No Comparative Toxicogenomics Database:23481, Ensembl:ENSG00000100029, GenAtlas:PES1, GeneCard:PES1, HGNC:HGNC:8848, HumanCyc Gene:HS01955, ModBase:O00541, NCBI Gene:23481, OMIM:605819, RefSeq DNA:NT_011520, RefSeq Protein:NP_055118, RefSeq RNA:NM_014303, RefSeq RNA:NR_036550, UCSC Genome Browser:NM_014303, UniProtKB:B2RDF2, UniProtKB:O00541 No chr22 30972612 31003000 30576625 30607013 +PA166049058 100131801 HGNC:40038 ENSG00000229833 PET100 cytochrome c oxidase chaperone PET100 PET100 homolog, PET100 homolog (S. cerevisiae) C19orf79 Yes No Ensembl:ENSG00000229833, HGNC:HGNC:40038, NCBI Gene:100131801 No chr19 7694671 7696510 7629785 7631624 +PA166049064 100303755 HGNC:40045 ENSG00000232838 PET117 cytochrome c oxidase chaperone PET117 PET117 homolog, PET117 homolog (S. cerevisiae) CSRP2BP Yes No Ensembl:ENSG00000232838, HGNC:HGNC:40045, NCBI Gene:100303755 No chr20 18118499 18169016 18137855 18143169 +PA33192 5189 HGNC:8850 ENSG00000127980 peroxisomal biogenesis factor 1 PEX1 ZWS, ZWS1 Yes No Comparative Toxicogenomics Database:5189, Ensembl:ENSG00000127980, GenAtlas:PEX1, GeneCard:PEX1, HGNC:HGNC:8850, HumanCyc Gene:HS05146, ModBase:O43933, NCBI Gene:5189, OMIM:202370, OMIM:214100, OMIM:266510, OMIM:602136, RefSeq DNA:NG_008341, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000457, RefSeq RNA:NM_000466, UCSC Genome Browser:NM_000466, UniProtKB:O43933 No chr7 92116337 92157845 92487023 92528531 +PA33193 5192 HGNC:8851 ENSG00000157911 peroxisomal biogenesis factor 10 PEX10 RNF69 Yes No Comparative Toxicogenomics Database:5192, Ensembl:ENSG00000157911, GenAtlas:PEX10, GeneCard:PEX10, HGNC:HGNC:8851, HumanCyc Gene:HS08252, ModBase:O60683, NCBI Gene:5192, OMIM:202370, OMIM:214100, OMIM:602859, RefSeq DNA:NG_008342, RefSeq DNA:NT_004350, RefSeq Protein:NP_002608, RefSeq Protein:NP_722540, RefSeq RNA:NM_002617, RefSeq RNA:NM_153818, UCSC Genome Browser:NM_002617, UniProtKB:O60683 No chr1 2336241 2344010 2404802 2412622 +PA33194 8800 HGNC:8852 ENSG00000166821 peroxisomal biogenesis factor 11 alpha PEX11A Peroxin-11A, Peroxisomal membrane protein 11A, peroxisomal integral membrane protein 28-kDa MGC119947, MGC138534, PEX11-ALPHA, PEX11alpha, PEX11α, PEX11α, PMP28 Yes No Comparative Toxicogenomics Database:8800, Ensembl:ENSG00000166821, GenAtlas:PEX11A, GeneCard:PEX11A, HGNC:HGNC:8852, HumanCyc Gene:HS09456, ModBase:O75192, NCBI Gene:8800, OMIM:603866, RefSeq DNA:NT_010274, RefSeq Protein:NP_003838, RefSeq RNA:NM_003847, UCSC Genome Browser:NM_003847, UniProtKB:B2R8C6, UniProtKB:O75192 No chr15 90224762 90234015 89681531 89690784 +PA33195 8799 HGNC:8853 ENSG00000131779 peroxisomal biogenesis factor 11 beta PEX11B Peroxisomal membrane protein 11B PEX11beta, PEX11β, PEX11β Yes No Comparative Toxicogenomics Database:8799, Ensembl:ENSG00000131779, GenAtlas:PEX11B, GeneCard:PEX11B, HGNC:HGNC:8853, HumanCyc Gene:HS05566, ModBase:O96011, NCBI Gene:8799, OMIM:603867, RefSeq DNA:NT_167185, RefSeq Protein:NP_001171724, RefSeq Protein:NP_003837, RefSeq RNA:NM_001184795, RefSeq RNA:NM_003846, UCSC Genome Browser:NM_003846, UniProtKB:B4DXH9, UniProtKB:O96011 No chr1 145516165 145523732 145911348 145918924 +PA134987796 92960 HGNC:20208 ENSG00000104883 peroxisomal biogenesis factor 11 gamma PEX11G Peroxisomal membrane protein 11G PEX11gamma, PEX11γ, PEX11γ Yes No Ensembl:ENSG00000104883, GeneCard:PEX11G, HGNC:HGNC:20208, HumanCyc Gene:HS12562, ModBase:Q96HA9, NCBI Gene:92960, OMIM:607583, RefSeq DNA:NT_077812, RefSeq Protein:NP_542393, RefSeq RNA:NM_080662, UniProtKB:Q96HA9 No chr19 7541756 7555884 7476870 7494977 +PA33196 5193 HGNC:8854 ENSG00000108733 peroxisomal biogenesis factor 12 PEX12 Yes No Comparative Toxicogenomics Database:5193, Ensembl:ENSG00000108733, GenAtlas:PEX12, GeneCard:PEX12, HGNC:HGNC:8854, HumanCyc Gene:HS03147, ModBase:O00623, NCBI Gene:5193, OMIM:214100, OMIM:601758, RefSeq DNA:NG_008447, RefSeq DNA:NT_010799, RefSeq Protein:NP_000277, RefSeq RNA:NM_000286, UCSC Genome Browser:NM_000286, UniProtKB:O00623 No chr17 33901814 33905656 35574795 35578637 +PA33197 5194 HGNC:8855 ENSG00000162928 peroxisomal biogenesis factor 13 PEX13 Yes No Comparative Toxicogenomics Database:5194, Ensembl:ENSG00000162928, GenAtlas:PEX13, GeneCard:PEX13, HGNC:HGNC:8855, HumanCyc Gene:HS08760, ModBase:Q92968, NCBI Gene:5194, OMIM:202370, OMIM:214100, OMIM:601789, RefSeq DNA:NG_008665, RefSeq DNA:NT_022184, RefSeq Protein:NP_002609, RefSeq RNA:NM_002618, UCSC Genome Browser:NM_002618, UniProtKB:Q92968 No chr2 61244812 61279125 61017677 61051990 +PA33198 5195 HGNC:8856 ENSG00000142655 peroxisomal biogenesis factor 14 PEX14 Yes No Comparative Toxicogenomics Database:5195, Ensembl:ENSG00000142655, GenAtlas:PEX14, GeneCard:PEX14, HGNC:HGNC:8856, HumanCyc Gene:HS06948, ModBase:O75381, NCBI Gene:5195, OMIM:214100, OMIM:601791, RefSeq DNA:NG_008340, RefSeq DNA:NT_021937, RefSeq Protein:NP_004556, RefSeq RNA:NM_004565, UCSC Genome Browser:NM_004565, UniProtKB:O75381 No chr1 10535003 10690815 10474946 10630758 +PA33199 9409 HGNC:8857 ENSG00000121680 peroxisomal biogenesis factor 16 PEX16 Yes No Comparative Toxicogenomics Database:9409, Ensembl:ENSG00000121680, GenAtlas:PEX16, GeneCard:PEX16, HGNC:HGNC:8857, HumanCyc Gene:HS04511, ModBase:Q9Y5Y5, NCBI Gene:9409, OMIM:603360, RefSeq DNA:NG_008460, RefSeq DNA:NT_009237, RefSeq Protein:NP_004804, RefSeq Protein:NP_476515, RefSeq RNA:NM_004813, RefSeq RNA:NM_057174, UCSC Genome Browser:NM_004813, UniProtKB:Q9Y5Y5 No chr11 45931220 45939674 45909669 45918123 +PA34058 5824 HGNC:9713 ENSG00000162735, ENSG00000250901 peroxisomal biogenesis factor 19 PEX19 housekeeping gene, 33kD D1S2223E, HK33, PMP1, PMPI, PXF, PXMP1 Yes No Comparative Toxicogenomics Database:5824, Ensembl:ENSG00000162735, Ensembl:ENSG00000250901, GenAtlas:PEX19, GeneCard:PEX19, HGNC:HGNC:9713, HumanCyc Gene:HS08731, ModBase:P40855, NCBI Gene:5824, OMIM:214100, OMIM:600279, RefSeq DNA:NG_008637, RefSeq DNA:NT_004487, RefSeq Protein:NP_001124511, RefSeq Protein:NP_001180573, RefSeq Protein:NP_002848, RefSeq RNA:NM_001131039, RefSeq RNA:NM_001193644, RefSeq RNA:NM_002857, RefSeq RNA:NR_036492, RefSeq RNA:NR_036493, UCSC Genome Browser:NM_002857, UniProtKB:B7Z6I5, UniProtKB:P40855 No chr1 160246599 160254941 160276809 160285151 +PA34060 5828 HGNC:9717 ENSG00000164751 peroxisomal biogenesis factor 2 PEX2 Zellweger syndrome, peroxin 2 PAF-1, PMP35, PXMP3, RNF72, ZWS3 Yes No Comparative Toxicogenomics Database:5828, Ensembl:ENSG00000164751, GenAtlas:PXMP3, GeneCard:PEX2, GeneCard:PXMP3, HGNC:HGNC:9717, HumanCyc Gene:HS09130, ModBase:P28328, NCBI Gene:5828, OMIM:170993, OMIM:214100, OMIM:266510, RefSeq DNA:NG_008371, RefSeq DNA:NT_008183, RefSeq Protein:NP_000309, RefSeq Protein:NP_001073336, RefSeq Protein:NP_001165557, RefSeq Protein:NP_001165558, RefSeq RNA:NM_000318, RefSeq RNA:NM_001079867, RefSeq RNA:NM_001172086, RefSeq RNA:NM_001172087, UCSC Genome Browser:NM_000318, UniProtKB:P28328 No chr8 77892494 77913280 76980258 77001044 +PA134983458 55670 HGNC:22965 ENSG00000215193 peroxisomal biogenesis factor 26 PEX26 FLJ20695 Yes No Comparative Toxicogenomics Database:55670, Ensembl:ENSG00000215193, GeneCard:PEX26, HGNC:HGNC:22965, ModBase:Q7Z412, NCBI Gene:55670, OMIM:202370, OMIM:214100, OMIM:266510, OMIM:608666, RefSeq DNA:NG_008339, RefSeq DNA:NT_011519, RefSeq Protein:NP_001121121, RefSeq Protein:NP_001186248, RefSeq Protein:NP_060399, RefSeq RNA:NM_001127649, RefSeq RNA:NM_001199319, RefSeq RNA:NM_017929, UniProtKB:Q7Z412 No chr22 18560686 18573797 18077920 18091031 +PA33200 8504 HGNC:8858 ENSG00000034693 peroxisomal biogenesis factor 3 PEX3 Yes No Comparative Toxicogenomics Database:8504, Ensembl:ENSG00000034693, GenAtlas:PEX3, GeneCard:PEX3, HGNC:HGNC:8858, HumanCyc Gene:HS00503, ModBase:P56589, NCBI Gene:8504, OMIM:214100, OMIM:603164, RefSeq DNA:NG_008459, RefSeq DNA:NT_025741, RefSeq Protein:NP_003621, RefSeq RNA:NM_003630, UCSC Genome Browser:NM_003630, UniProtKB:P56589, UniProtKB:Q6FGP5 No chr6 143771918 143811753 143450781 143490616 +PA164717364 441150 HGNC:34431 ENSG00000221821 peroxisomal biogenesis factor 39 PEX39 chromosome 6 open reading frame 226 C6orf226, LOC441150 Yes No Ensembl:ENSG00000221821, GeneCard:C6orf226, HGNC:HGNC:34431, NCBI Gene:441150, RefSeq DNA:NT_007592, RefSeq Protein:NP_001008739, RefSeq RNA:NM_001008739, UniProtKB:Q5I0X4 No chr6 42858003 42858554 42890265 42890816 +PA34063 5830 HGNC:9719 ENSG00000139197 peroxisomal biogenesis factor 5 PEX5 peroxisomal import receptor 5, peroxisomal targeting signal 1 receptor PTS1R, PXR1 Yes No Comparative Toxicogenomics Database:5830, Ensembl:ENSG00000139197, GenAtlas:PEX5, GeneCard:PEX5, HGNC:HGNC:9719, HumanCyc Gene:HS06595, NCBI Gene:5830, OMIM:202370, OMIM:214100, OMIM:600414, RefSeq DNA:NG_008448, RefSeq DNA:NT_009714, RefSeq Protein:NP_000310, RefSeq Protein:NP_001124495, RefSeq Protein:NP_001124496, RefSeq Protein:NP_001124497, RefSeq Protein:NP_001124498, RefSeq RNA:NM_000319, RefSeq RNA:NM_001131023, RefSeq RNA:NM_001131024, RefSeq RNA:NM_001131025, RefSeq RNA:NM_001131026, UCSC Genome Browser:NM_000319, UniProtKB:B4DR50, UniProtKB:B4DZ45, UniProtKB:P50542 No chr12 7341759 7371170 7188072 7218574 +PA134892044 51555 HGNC:30024 ENSG00000114757 peroxisomal biogenesis factor 5 like PEX5L HCN channel auxiliary subunit, peroxisomal biogenesis factor 5-like PEX5R, PXR2, TRIP8b Yes No Ensembl:ENSG00000114757, GeneCard:PEX5L, HGNC:HGNC:30024, HumanCyc Gene:HS12827, ModBase:Q8IYB4, NCBI Gene:51555, OMIM:611058, RefSeq DNA:NT_005612, RefSeq Protein:NP_057643, RefSeq RNA:NM_016559, UniProtKB:Q8IYB4 No chr3 179512746 179754841 179794958 180037053 +PA33201 5190 HGNC:8859 ENSG00000124587 peroxisomal biogenesis factor 6 PEX6 PAF-2, PXAAA1 Yes No Comparative Toxicogenomics Database:5190, Ensembl:ENSG00000124587, GenAtlas:PEX6, GeneCard:PEX6, HGNC:HGNC:8859, HumanCyc Gene:HS04801, ModBase:Q13608, NCBI Gene:5190, OMIM:214100, OMIM:601498, RefSeq DNA:NG_008370, RefSeq DNA:NT_007592, RefSeq Protein:NP_000278, RefSeq RNA:NM_000287, UCSC Genome Browser:NM_000287, UniProtKB:Q13608, UniProtKB:Q5T8W1 No chr6 42931611 42946981 42963873 42979243 +PA33202 5191 HGNC:8860 ENSG00000112357 peroxisomal biogenesis factor 7 PEX7 Refsum disease PTS2R, RD Yes No Comparative Toxicogenomics Database:5191, Ensembl:ENSG00000112357, GenAtlas:PEX7, GeneCard:PEX7, HGNC:HGNC:8860, HumanCyc Gene:HS03565, ModBase:O00628, NCBI Gene:5191, OMIM:215100, OMIM:266500, OMIM:601757, RefSeq DNA:NG_008462, RefSeq DNA:NT_025741, RefSeq Protein:NP_000279, RefSeq RNA:NM_000288, UCSC Genome Browser:NM_000288, UniProtKB:O00628, UniProtKB:Q6FGN1 No chr6 137143702 137235072 136822220 136913934 +PA33203 5196 HGNC:8861 ENSG00000163737 platelet factor 4 PF4 chemokine (C-X-C motif) ligand 4 CXCL4, SCYB4 Yes No Comparative Toxicogenomics Database:5196, Ensembl:ENSG00000163737, GenAtlas:PF4, GeneCard:PF4, HGNC:HGNC:8861, HumanCyc Gene:HS08925, ModBase:P02776, NCBI Gene:5196, OMIM:173460, RefSeq DNA:NT_022778, RefSeq Protein:NP_002610, RefSeq RNA:NM_002619, UCSC Genome Browser:NM_002619, UniProtKB:P02776 No chr4 74846542 74847841 73980825 73982124 +PA33204 5197 HGNC:8862 ENSG00000109272 platelet factor 4 variant 1 PF4V1 CXCL4L1, CXCL4V1, SCYB4V1 Yes No Comparative Toxicogenomics Database:5197, Ensembl:ENSG00000109272, GenAtlas:PF4V1, GeneCard:PF4V1, HGNC:HGNC:8862, HumanCyc Gene:HS03216, ModBase:P10720, NCBI Gene:5197, OMIM:173461, RefSeq DNA:NT_022778, RefSeq Protein:NP_002611, RefSeq RNA:NM_002620, UCSC Genome Browser:NM_002620, UniProtKB:P10720 No chr4 74719013 74720198 73853296 73854484 +PA33205 5198 HGNC:8863 ENSG00000178921 phosphoribosylformylglycinamidine synthase PFAS FGAR amidotransferase FGARAT, GATD8, KIAA0361, PURL Yes No Comparative Toxicogenomics Database:5198, Ensembl:ENSG00000178921, GenAtlas:PFAS, GeneCard:PFAS, HGNC:HGNC:8863, HumanCyc Gene:HS11329, ModBase:O15067, NCBI Gene:5198, OMIM:602133, RefSeq DNA:NT_010718, RefSeq Protein:NP_036525, RefSeq RNA:NM_012393, UCSC Genome Browser:NM_012393, UniProtKB:A8K9T9, UniProtKB:Q6P4B4 No chr17 8152596 8173809 8249255 8270491 +PA33207 5201 HGNC:8866 ENSG00000113068 prefoldin subunit 1 PFDN1 PFD1 Yes No Ensembl:ENSG00000113068, GenAtlas:PFDN1, GeneCard:PFDN1, HGNC:HGNC:8866, HumanCyc Gene:HS03643, ModBase:O60925, NCBI Gene:5201, OMIM:604897, RefSeq DNA:NT_029289, RefSeq Protein:NP_002613, RefSeq RNA:NM_002622, UCSC Genome Browser:NM_002622, UniProtKB:O60925 No chr5 139624635 139682689 140245050 140303141 +PA33208 5202 HGNC:8867 ENSG00000143256 prefoldin subunit 2 PFDN2 Yes No Comparative Toxicogenomics Database:5202, Ensembl:ENSG00000143256, GenAtlas:PFDN2, GeneCard:PFDN2, HGNC:HGNC:8867, HumanCyc Gene:HS07015, ModBase:Q9UHV9, NCBI Gene:5202, OMIM:613466, RefSeq DNA:NT_004487, RefSeq Protein:NP_036526, RefSeq RNA:NM_012394, UCSC Genome Browser:NM_012394, UniProtKB:B1AQP2, UniProtKB:Q9UHV9 No chr1 161070346 161087866 161100556 161118076 +PA33209 5203 HGNC:8868 ENSG00000101132 prefoldin subunit 4 PFDN4 C-1, C1, PFD4 Yes Yes Comparative Toxicogenomics Database:5203, Ensembl:ENSG00000101132, GenAtlas:PFDN4, GeneCard:PFDN4, HGNC:HGNC:8868, HumanCyc Gene:HS02197, ModBase:Q9NQP4, NCBI Gene:5203, OMIM:604898, RefSeq DNA:NT_011362, RefSeq Protein:NP_002614, RefSeq RNA:NM_002623, UCSC Genome Browser:NM_002623, UniProtKB:Q9NQP4 No chr20 52824502 52836492 54207963 54219953 +PA33210 5204 HGNC:8869 ENSG00000123349 prefoldin subunit 5 PFDN5 MM-1, PFD5 Yes No Comparative Toxicogenomics Database:5204, Ensembl:ENSG00000123349, GenAtlas:PFDN5, GeneCard:PFDN5, HGNC:HGNC:8869, HumanCyc Gene:HS04649, ModBase:Q99471, NCBI Gene:5204, OMIM:604899, RefSeq DNA:NT_029419, RefSeq Protein:NP_002615, RefSeq Protein:NP_665904, RefSeq RNA:NM_002624, RefSeq RNA:NM_145897, UCSC Genome Browser:NM_002624, UniProtKB:Q99471, UniProtKB:Q9C083 No chr12 53689235 53693234 53295451 53299450 +PA29304 10471 HGNC:4926 ENSG00000204220, ENSG00000206283, ENSG00000224782, ENSG00000235692, ENSG00000237335 prefoldin subunit 6 PFDN6 H2-KE2, HKE2, KE-2, PFD6 Yes No Ensembl:ENSG00000204220, Ensembl:ENSG00000206283, Ensembl:ENSG00000224782, Ensembl:ENSG00000235692, Ensembl:ENSG00000237335, GenAtlas:PFDN6, GeneCard:PFDN6, HGNC:HGNC:4926, HumanCyc Gene:HS03579, ModBase:O15212, NCBI Gene:10471, OMIM:605660, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001172110, RefSeq Protein:NP_055075, RefSeq RNA:NM_001185181, RefSeq RNA:NM_014260, UCSC Genome Browser:NM_014260, UniProtKB:O15212, UniProtKB:Q5STK2 No chr6 33257374 33258711 33289597 33290934 +PA33211 5207 HGNC:8872 ENSG00000158571 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 PFKFB1 PFRX Yes No Comparative Toxicogenomics Database:5207, Ensembl:ENSG00000158571, GenAtlas:PFKFB1, GeneCard:PFKFB1, HGNC:HGNC:8872, HumanCyc Gene:HS08310, ModBase:P16118, NCBI Gene:5207, OMIM:311790, RefSeq DNA:NG_013254, RefSeq DNA:NT_011630, RefSeq Protein:NP_002616, RefSeq RNA:NM_002625, UCSC Genome Browser:NM_002625, UniProtKB:P16118 No chrX 54959307 55025244 54933134 54998534 +PA33212 5208 HGNC:8873 ENSG00000123836 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 PFKFB2 Yes No Comparative Toxicogenomics Database:5208, Ensembl:ENSG00000123836, GenAtlas:PFKFB2, GeneCard:PFKFB2, HGNC:HGNC:8873, HumanCyc Gene:HS04690, ModBase:O60825, NCBI Gene:5208, OMIM:171835, RefSeq DNA:NT_167186, RefSeq Protein:NP_001018063, RefSeq Protein:NP_006203, RefSeq RNA:NM_001018053, RefSeq RNA:NM_006212, UCSC Genome Browser:NM_006212, UniProtKB:O60825, UniProtKB:Q5VVQ3 No chr1 207207761 207254368 207053275 207081023 +PA33213 5209 HGNC:8874 ENSG00000170525 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 PFKFB3 Yes No Comparative Toxicogenomics Database:5209, Ensembl:ENSG00000170525, GenAtlas:PFKFB3, GeneCard:PFKFB3, HGNC:HGNC:8874, HumanCyc Gene:HS10144, ModBase:Q16875, NCBI Gene:5209, OMIM:605319, RefSeq DNA:NT_008705, RefSeq Protein:NP_001138915, RefSeq Protein:NP_004557, RefSeq RNA:NM_001145443, RefSeq RNA:NM_004566, UCSC Genome Browser:NM_004566, UniProtKB:Q16875, UniProtKB:Q5VX15, UniProtKB:Q5VX18 No chr10 6186843 6277508 6144802 6254648 +PA33214 5210 HGNC:8875 ENSG00000114268 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 PFKFB4 Yes No Comparative Toxicogenomics Database:5210, Ensembl:ENSG00000114268, GenAtlas:PFKFB4, GeneCard:PFKFB4, HGNC:HGNC:8875, HumanCyc Gene:HS03750, ModBase:Q16877, NCBI Gene:5210, OMIM:605320, RefSeq DNA:NT_022517, RefSeq Protein:NP_004558, RefSeq RNA:NM_004567, UCSC Genome Browser:NM_004567, UniProtKB:Q16877 No chr3 48555117 48598607 48517684 48562383 +PA33215 5211 HGNC:8876 ENSG00000141959 phosphofructokinase, liver type PFKL phosphofructokinase, liver Yes No Comparative Toxicogenomics Database:5211, Ensembl:ENSG00000141959, GenAtlas:PFKL, GeneCard:PFKL, HGNC:HGNC:8876, HumanCyc Gene:HS06881, ModBase:P17858, NCBI Gene:5211, OMIM:171860, RefSeq DNA:NT_011515, RefSeq Protein:NP_002617, RefSeq RNA:NM_002626, RefSeq RNA:NR_024108, UCSC Genome Browser:NM_002626, UniProtKB:P17858, UniProtKB:Q7L2M7 No chr21 45719925 45747261 44300034 44327381 +PA33216 5213 HGNC:8877 ENSG00000152556 phosphofructokinase, muscle PFKM protein phosphatase 1, regulatory subunit 122 PFK-1, PFKX, PPP1R122 Yes No Comparative Toxicogenomics Database:5213, Ensembl:ENSG00000152556, GenAtlas:PFKM, GeneCard:PFKM, HGNC:HGNC:8877, HumanCyc Gene:HS07832, ModBase:P08237, NCBI Gene:5213, OMIM:232800, OMIM:610681, RefSeq DNA:NG_016199, RefSeq DNA:NT_029419, RefSeq Protein:NP_000280, RefSeq Protein:NP_001160158, RefSeq Protein:NP_001160159, RefSeq Protein:NP_001160160, RefSeq RNA:NM_000289, RefSeq RNA:NM_001166686, RefSeq RNA:NM_001166687, RefSeq RNA:NM_001166688, UCSC Genome Browser:NM_000289, UniProtKB:P08237 No chr12 48499656 48540187 48105278 48146404 +PA33217 5214 HGNC:8878 ENSG00000067057 phosphofructokinase, platelet PFKP Phosphofructokinase, platelet type PFK-C, PFKF Yes No Comparative Toxicogenomics Database:5214, Ensembl:ENSG00000067057, GenAtlas:PFKP, GeneCard:PFKP, HGNC:HGNC:8878, HumanCyc Gene:HS00894, ModBase:Q01813, NCBI Gene:5214, OMIM:171840, RefSeq DNA:NT_008705, RefSeq Protein:NP_001229268, RefSeq Protein:NP_002618, RefSeq RNA:NM_001242339, RefSeq RNA:NM_002627, UCSC Genome Browser:NM_002627, UniProtKB:B3KS15, UniProtKB:Q01813 No chr10 3109667 3178997 3067475 3136805 +PA33219 5216 HGNC:8881 ENSG00000108518 profilin 1 PFN1 Yes No Comparative Toxicogenomics Database:5216, Ensembl:ENSG00000108518, GenAtlas:PFN1, GeneCard:PFN1, HGNC:HGNC:8881, HumanCyc Gene:HS03118, ModBase:P07737, NCBI Gene:5216, OMIM:176610, RefSeq DNA:NT_010718, RefSeq Protein:NP_005013, RefSeq RNA:NM_005022, UCSC Genome Browser:NM_005022, UniProtKB:P07737, UniProtKB:Q53Y44 No chr17 4848945 4852381 4945650 4949088 +PA142672469 767846 HGNC:24298 ENSG00000270392 profilin 1 pseudogene 2 PFN1P2 COAS3 Yes No Ensembl:ENSG00000270392, GeneCard:PFN1P2, HGNC:HGNC:24298, NCBI Gene:767846, OMIM:608609, RefSeq DNA:NT_077933, RefSeq RNA:NR_003242 No chr1 144610815 144612727 120432204 120434109 +PA33220 5217 HGNC:8882 ENSG00000070087 profilin 2 PFN2 Yes No Comparative Toxicogenomics Database:5217, Ensembl:ENSG00000070087, GenAtlas:PFN2, GeneCard:PFN2, HGNC:HGNC:8882, HumanCyc Gene:HS00985, ModBase:P35080, NCBI Gene:5217, OMIM:176590, RefSeq DNA:NT_005612, RefSeq Protein:NP_002619, RefSeq Protein:NP_444252, RefSeq RNA:NM_002628, RefSeq RNA:NM_053024, UCSC Genome Browser:NM_002628, UniProtKB:P35080 No chr3 149682691 149688741 149964904 149970954 +PA142671182 345456 HGNC:18627 ENSG00000196570 profilin 3 PFN3 Yes No Ensembl:ENSG00000196570, GeneCard:PFN3, HGNC:HGNC:18627, ModBase:P60673, NCBI Gene:345456, OMIM:612812, RefSeq DNA:NT_023133, RefSeq Protein:NP_001025057, RefSeq RNA:NM_001029886, UniProtKB:P60673 No chr5 176827108 176827637 177400107 177400636 +PA134919643 375189 HGNC:31103 ENSG00000176732 profilin family member 4 PFN4 profilin family, member 4 Yes No Comparative Toxicogenomics Database:375189, Ensembl:ENSG00000176732, GeneCard:PFN4, HGNC:HGNC:31103, ModBase:Q8NHR9, NCBI Gene:375189, RefSeq DNA:NT_022184, RefSeq Protein:NP_955378, RefSeq RNA:NM_199346, UniProtKB:Q53TL9, UniProtKB:Q8NHR9 No chr2 24337954 24346334 24114809 24123491 +PA33222 643834 HGNC:8885 ENSG00000229859 pepsinogen A3 PGA3 """pepsin A"", ""pepsinogen 3, group I (pepsinogen A)""" Yes No Ensembl:ENSG00000229859, GenAtlas:PGA3, GeneCard:PGA3, HGNC:HGNC:8885, NCBI Gene:643834, OMIM:169710, RefSeq DNA:NT_167190, RefSeq Protein:NP_001073275, RefSeq RNA:NM_001079807 No chr11 60970984 60980350 61203513 61212869 +PA33223 643847 HGNC:8886 ENSG00000229183 pepsinogen A4 PGA4 """pepsin A"", ""pepsinogen 4, group I (pepsinogen A)""" Yes No Ensembl:ENSG00000229183, GenAtlas:PGA4, GeneCard:PGA4, HGNC:HGNC:8886, NCBI Gene:643847, OMIM:169720, RefSeq DNA:NT_167190, RefSeq Protein:NP_001073276, RefSeq RNA:NM_001079808, UniProtKB:P00790 No chr11 60989821 60999179 61222349 61231695 +PA33224 5222 HGNC:8887 ENSG00000256713 pepsinogen A5 PGA5 """pepsin A"", ""pepsinogen 5, group I (pepsinogen A)""" Yes No Ensembl:ENSG00000256713, GenAtlas:PGA5, GeneCard:PGA5, HGNC:HGNC:8887, HumanCyc Gene:HS10548, HumanCyc Gene:HS11540, NCBI Gene:5222, OMIM:169730, RefSeq DNA:NT_167190, RefSeq Protein:NP_055039, RefSeq RNA:NM_014224, UCSC Genome Browser:NM_014224, UniProtKB:B7ZW62 No chr11 61008644 61018929 61241176 61251444 +PA33225 5223 HGNC:8888 ENSG00000171314 phosphoglycerate mutase 1 PGAM1 """Phosphoglycerate mutase A, nonmuscle form"", ""phosphoglycerate mutase 1 (brain)""" PGAM-B, PGAMA Yes No Comparative Toxicogenomics Database:5223, Ensembl:ENSG00000171314, GenAtlas:PGAM1, GeneCard:PGAM1, HGNC:HGNC:8888, HumanCyc Gene:HS10286, HumanCyc Gene:HS11159, HumanCyc Gene:HS11196, ModBase:P18669, NCBI Gene:5223, OMIM:172250, RefSeq DNA:NT_030059, RefSeq Protein:NP_002620, RefSeq RNA:NM_002629, UCSC Genome Browser:NM_002629, UniProtKB:P18669, UniProtKB:Q6FHU2 No chr10 99186027 99193198 97426125 97433444 +PA33226 5224 HGNC:8889 ENSG00000164708 phosphoglycerate mutase 2 PGAM2 phosphoglycerate mutase 2 (muscle) PGAM-M Yes No Comparative Toxicogenomics Database:5224, Ensembl:ENSG00000164708, GenAtlas:PGAM2, GeneCard:PGAM2, HGNC:HGNC:8889, HumanCyc Gene:HS09121, ModBase:P15259, NCBI Gene:5224, OMIM:261670, OMIM:612931, RefSeq DNA:NG_013016, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000281, RefSeq RNA:NM_000290, UCSC Genome Browser:NM_000290, UniProtKB:P15259 No chr7 44102326 44105186 44062727 44065587 +PA33227 170535 HGNC:16557 ENSG00000237256 phosphoglycerate mutase 3, pseudogene PGAM3P dJ1128N12.1 Yes No Ensembl:ENSG00000237256, GenAtlas:PGAM3P, GeneCard:PGAM3P, HGNC:HGNC:16557, NCBI Gene:170535, RefSeq DNA:NG_001047, RefSeq DNA:NT_011387 No chr20 11601700 11602126 11621052 11621478 +PA142671183 441531 HGNC:21731 ENSG00000226784 phosphoglycerate mutase family member 4 PGAM4 PGAM-B, PGAM1, PGAM3, dJ1000K24.1 Yes No Ensembl:ENSG00000226784, GeneCard:PGAM4, HGNC:HGNC:21731, ModBase:Q8N0Y7, NCBI Gene:441531, OMIM:300567, RefSeq DNA:NG_021360, RefSeq DNA:NT_011651, RefSeq Protein:NP_001025062, RefSeq RNA:NM_001029891, UniProtKB:Q8N0Y7 No chrX 77223458 77225135 77967961 77969638 +PA143485574 192111 HGNC:28763 ENSG00000247077 PGAM family member 5, mitochondrial serine/threonine protein phosphatase PGAM5 Bcl-XL-binding protein v68, phosphoglycerate mutase family member 5 BXLBv68, MGC5352 Yes No Comparative Toxicogenomics Database:192111, Ensembl:ENSG00000247077, GeneCard:PGAM5, HGNC:HGNC:28763, HumanCyc Gene:HS11097, ModBase:Q96HS1, NCBI Gene:192111, RefSeq DNA:NT_024477, RefSeq Protein:NP_001164014, RefSeq Protein:NP_001164015, RefSeq Protein:NP_612642, RefSeq RNA:NM_001170543, RefSeq RNA:NM_001170544, RefSeq RNA:NM_138575, UniProtKB:A9LN06, UniProtKB:C9IZY7, UniProtKB:Q96HS1 No chr12 133287393 133299323 132710807 132722737 +PA162399235 80055 HGNC:25712 ENSG00000197121 post-GPI attachment to proteins inositol deacylase 1 PGAP1 GPI inositol-deacylase, post-GPI attachment to proteins 1 Bst1, FLJ12377, SPG67 Yes No Ensembl:ENSG00000197121, GeneCard:PGAP1, HGNC:HGNC:25712, ModBase:Q75T13, NCBI Gene:80055, OMIM:611655, RefSeq DNA:NT_005403, RefSeq Protein:NP_079265, RefSeq RNA:NM_024989, UniProtKB:Q75T13 No chr2 197697728 197791454 196833004 196926995 +PA165543520 27315 HGNC:17893 ENSG00000148985 post-GPI attachment to proteins 2 PGAP2 FGF receptor activating protein 1, cell wall biogenesis 43 N-terminal homolog (S. cerevisiae) CWH43-N, FRAG1, MRT17, MRT21 Yes No Ensembl:ENSG00000148985, GeneCard:PGAP2, HGNC:HGNC:17893, HumanCyc Gene:HS07576, NCBI Gene:27315, RefSeq DNA:NT_009237, RefSeq Protein:NP_001138910, RefSeq Protein:NP_001138911, RefSeq Protein:NP_055304, RefSeq RNA:NM_001145438, RefSeq RNA:NM_001145439, RefSeq RNA:NM_014489, RefSeq RNA:NR_027014, RefSeq RNA:NR_027015, RefSeq RNA:NR_027016, RefSeq RNA:NR_027017, RefSeq RNA:NR_027018, UniProtKB:Q9UHJ9 No chr11 3818954 3847601 3797724 3826371 +PA165432310 93210 HGNC:23719 ENSG00000161395 post-GPI attachment to proteins phospholipase 3 PGAP3 post-GPI attachment to proteins 3 CAB2, MGC9753, PER1, PERLD1, PP1498 Yes No Comparative Toxicogenomics Database:93210, Ensembl:ENSG00000161395, GeneCard:PGAP3, HGNC:HGNC:23719, HumanCyc Gene:HS14861, ModBase:Q96FM1, NCBI Gene:93210, OMIM:611801, RefSeq DNA:NG_007503, RefSeq DNA:NT_010755, RefSeq DNA:NT_010783, RefSeq Protein:NP_219487, RefSeq RNA:NM_033419, UniProtKB:Q96FM1 No chr17 37827375 37844310 39671122 39688070 +PA166352046 84302 HGNC:28180 post-GPI attachment to proteins GalNAc transferase 4 PGAP4 C9orf125, MGC12992, TMEM246 Yes No HGNC:HGNC:28180, NCBI Gene:84302 No 0 0 0 0 +PA38211 58986 HGNC:17205 post-GPI attachment to proteins 6 PGAP6 post-glycosylphosphatidylinositol attachment to proteins 6, transmembrane protein 8A M83, PGAP6, TMEM6, TMEM8, TMEM8A Yes Yes GenAtlas:TMEM8, GeneCard:TMEM8, GeneCard:TMEM8A, HGNC:HGNC:17205, HumanCyc Gene:HS05317, NCBI Gene:58986, RefSeq DNA:NT_010393, RefSeq DNA:NT_037887, RefSeq Protein:NP_067082, RefSeq RNA:NM_021259, UCSC Genome Browser:NM_021259, UniProtKB:Q9HCN3 No chr16 420776 431950 370776 381950 +PA134919893 84547 HGNC:19398 ENSG00000137338 piggyBac transposable element derived 1 PGBD1 HUCEP-4, SCAND4, dJ874C20.4 Yes No Ensembl:ENSG00000137338, GeneCard:PGBD1, HGNC:HGNC:19398, HumanCyc Gene:HS06323, ModBase:Q96JS3, NCBI Gene:84547, RefSeq DNA:NT_007592, RefSeq Protein:NP_001171672, RefSeq Protein:NP_115896, RefSeq RNA:NM_001184743, RefSeq RNA:NM_032507, UniProtKB:Q96JS3 No chr6 28249314 28270326 28281537 28303681 +PA134877743 267002 HGNC:19399 ENSG00000185220 piggyBac transposable element derived 2 PGBD2 Yes No Ensembl:ENSG00000185220, GeneCard:PGBD2, HGNC:HGNC:19399, ModBase:Q6P3X8, NCBI Gene:267002, RefSeq DNA:NT_032968, RefSeq Protein:NP_001017434, RefSeq Protein:NP_733843, RefSeq RNA:NM_001017434, RefSeq RNA:NM_170725, UniProtKB:Q6P3X8 No chr1 249200395 249215453 248872852 248919146 +PA134927747 267004 HGNC:19400 piggyBac transposable element derived 3 PGBD3 FLJ90201 Yes No GeneCard:PGBD3, HGNC:HGNC:19400, ModBase:Q8N328, NCBI Gene:267004, RefSeq DNA:NT_030059, RefSeq Protein:NP_736609, RefSeq RNA:NM_170753, UniProtKB:Q8N328 No chr10 50723151 50732327 49515105 49524281 +PA134868715 267005 HGNC:19402 piggyBac transposable element derived 3 pseudogene 1 PGBD3P1 Yes No GeneCard:PGBD3P1, HGNC:HGNC:19402, NCBI Gene:267005, RefSeq DNA:NG_002400, RefSeq DNA:NT_029419 No chr12 61624724 61626733 61230943 61232952 +PA134913966 267006 HGNC:19397 piggyBac transposable element derived 3 pseudogene 2 PGBD3P2 Yes No GeneCard:PGBD3P2, HGNC:HGNC:19397, NCBI Gene:267006, RefSeq DNA:NG_002401, RefSeq DNA:NT_006576 No chr5 29881806 29883060 29881699 29882953 +PA134864024 267007 HGNC:19396 piggyBac transposable element derived 3 pseudogene 3 PGBD3P3 Yes No GeneCard:PGBD3P3, HGNC:HGNC:19396, NCBI Gene:267007, RefSeq DNA:NG_002402, RefSeq DNA:NT_009755 No chr12 126994665 126995822 126510119 126511276 +PA134864948 267008 HGNC:19379 piggyBac transposable element derived 3 pseudogene 4 PGBD3P4 Yes No GeneCard:PGBD3P4, HGNC:HGNC:19379, NCBI Gene:267008, RefSeq DNA:NG_002403, RefSeq DNA:NT_006238 No chr4 43588337 43590346 43586320 43588329 +PA134885912 161779 HGNC:19401 ENSG00000182405 piggyBac transposable element derived 4 PGBD4 FLJ32638, FLJ37497 Yes No Ensembl:ENSG00000182405, GeneCard:PGBD4, HGNC:HGNC:19401, NCBI Gene:161779, RefSeq DNA:NT_010194, RefSeq Protein:NP_689808, RefSeq RNA:NM_152595, UniProtKB:Q96DM1 No chr15 34394274 34396591 34102073 34104390 +PA134905621 79605 HGNC:19405 ENSG00000177614 piggyBac transposable element derived 5 PGBD5 DKFZp761A0620, FLJ11413 Yes No Comparative Toxicogenomics Database:79605, Ensembl:ENSG00000177614, GeneCard:PGBD5, HGNC:HGNC:19405, HumanCyc Gene:HS16886, ModBase:Q8N414, NCBI Gene:79605, RefSeq DNA:NT_167186, RefSeq Protein:NP_078830, RefSeq RNA:NM_024554, UniProtKB:Q8N414 No chr1 230457392 230561674 230321646 230425928 +PA33228 5225 HGNC:8890 ENSG00000096088 progastricsin PGC pepsinogen C, progastricsin (pepsinogen C) Yes No Comparative Toxicogenomics Database:5225, Ensembl:ENSG00000096088, GenAtlas:PGC, GeneCard:PGC, HGNC:HGNC:8890, HumanCyc Gene:HS01847, ModBase:P20142, NCBI Gene:5225, OMIM:169740, RefSeq DNA:NT_007592, RefSeq Protein:NP_001159896, RefSeq Protein:NP_002621, RefSeq RNA:NM_001166424, RefSeq RNA:NM_002630, UCSC Genome Browser:NM_002630, UniProtKB:B4DVZ3, UniProtKB:P20142 No chr6 41704449 41715139 41736711 41747401 +PA144596500 55286 HGNC:25618 ENSG00000154274 PDCD10 and GCKIII kinases associated 1 PGCKA1 chromosome 4 open reading frame 19 C4orf19, FLJ11017 Yes No Ensembl:ENSG00000154274, GeneCard:C4orf19, HGNC:HGNC:25618, HumanCyc Gene:HS14516, ModBase:Q8IY42, NCBI Gene:55286, RefSeq DNA:NT_016297, RefSeq Protein:NP_001098099, RefSeq Protein:NP_060772, RefSeq RNA:NM_001104629, RefSeq RNA:NM_018302, UniProtKB:Q8IY42 No chr4 37455552 37595132 37453454 37596146 +PA33229 5226 HGNC:8891 ENSG00000142657 phosphogluconate dehydrogenase PGD Yes No Comparative Toxicogenomics Database:5226, Ensembl:ENSG00000142657, GenAtlas:PGD, GeneCard:PGD, HGNC:HGNC:8891, HumanCyc Gene:HS06949, ModBase:P52209, NCBI Gene:5226, OMIM:172200, RefSeq DNA:NT_021937, RefSeq Protein:NP_002622, RefSeq RNA:NM_002631, UCSC Genome Browser:NM_002631, UniProtKB:A8K2Y9, UniProtKB:P52209 No chr1 10458884 10480565 10398992 10420511 +PA33230 342705 HGNC:8892 ENSG00000265273 phosphogluconate dehydrogenase pseudogene 1 PGDP1 Yes No Ensembl:ENSG00000265273, GenAtlas:PGDL1, GeneCard:PGDL1, HGNC:HGNC:8892, NCBI Gene:342705 No chr18 29542092 29543679 31962129 31963716 +PA33231 5228 HGNC:8893 ENSG00000119630 placental growth factor PGF placenta growth factor D12S1900, PGFL, PIGF, PLGF, PlGF, PlGF-2, SHGC-10760 Yes No Comparative Toxicogenomics Database:5228, Ensembl:ENSG00000119630, GenAtlas:PGF, GeneCard:PGF, HGNC:HGNC:8893, HumanCyc Gene:HS04313, NCBI Gene:5228, OMIM:601121, RefSeq DNA:NT_026437, RefSeq Protein:NP_001193941, RefSeq Protein:NP_002623, RefSeq RNA:NM_001207012, RefSeq RNA:NM_002632, UCSC Genome Browser:NM_002632, UniProtKB:P49763, UniProtKB:Q53XY6 No chr14 75408533 75422467 74941830 74955764 +PA142672576 80162 HGNC:26210 ENSG00000142102 protein-glucosylgalactosylhydroxylysine glucosidase PGGHG ATH1, acid trehalase-like 1 (yeast) ATHL1, FLJ22635 Yes No Comparative Toxicogenomics Database:80162, Ensembl:ENSG00000142102, GeneCard:ATHL1, HGNC:HGNC:26210, HumanCyc Gene:HS13919, ModBase:Q32M88, NCBI Gene:80162, RefSeq DNA:NT_009237, RefSeq Protein:NP_079368, RefSeq RNA:NM_025092, UniProtKB:Q32M88 No chr11 288480 297511 287760 295688 +PA33233 5229 HGNC:8895 ENSG00000164219 protein geranylgeranyltransferase type I subunit beta PGGT1B protein geranylgeranyltransferase type I, beta subunit BGGI, GGTI Yes No Comparative Toxicogenomics Database:5229, Ensembl:ENSG00000164219, GenAtlas:PGGT1B, GeneCard:PGGT1B, HGNC:HGNC:8895, HumanCyc Gene:HS09041, ModBase:P53609, NCBI Gene:5229, OMIM:602031, RefSeq DNA:NT_034772, RefSeq Protein:NP_005014, RefSeq RNA:NM_005023, UCSC Genome Browser:NM_005023, UniProtKB:P53609 No chr5 114546527 114599123 115200247 115262887 +PA33234 5230 HGNC:8896 ENSG00000102144 phosphoglycerate kinase 1 PGK1 Yes No Comparative Toxicogenomics Database:5230, Ensembl:ENSG00000102144, GenAtlas:PGK1, GeneCard:PGK1, HGNC:HGNC:8896, HumanCyc Gene:HS02359, ModBase:P00558, NCBI Gene:5230, OMIM:300653, OMIM:311800, RefSeq DNA:NG_008862, RefSeq DNA:NT_011651, RefSeq Protein:NP_000282, RefSeq RNA:NM_000291, UCSC Genome Browser:NM_000291, UniProtKB:A8K4W6, UniProtKB:P00558 No chrX 77359666 77382324 78104169 78126827 +PA33235 5231 HGNC:8897 ENSG00000228328 phosphoglycerate kinase 1, pseudogene 1 PGK1P1 Yes No Ensembl:ENSG00000228328, GenAtlas:PGK1P1, GeneCard:PGK1P1, HGNC:HGNC:8897, NCBI Gene:5231, RefSeq DNA:NG_001170, RefSeq DNA:NT_011669 No chrX 67289898 67291670 68070077 68071850 +PA33236 5233 HGNC:8899 ENSG00000213290 phosphoglycerate kinase 1, pseudogene 2 PGK1P2 Yes No Ensembl:ENSG00000213290, GenAtlas:PGK1P2, GeneCard:PGK1P2, HGNC:HGNC:8899, NCBI Gene:5233, RefSeq DNA:NG_001528, RefSeq DNA:NT_011295 No chr19 12670299 12672090 12559485 12561278 +PA33237 5232 HGNC:8898 ENSG00000170950 phosphoglycerate kinase 2 PGK2 phosphoglycerate kinase, testis specific PGK-2, PGKPS Yes No Ensembl:ENSG00000170950, GenAtlas:PGK2, GeneCard:PGK2, HGNC:HGNC:8898, HumanCyc Gene:HS10215, ModBase:P07205, NCBI Gene:5232, OMIM:172270, RefSeq DNA:NT_007592, RefSeq Protein:NP_620061, RefSeq RNA:NM_138733, UCSC Genome Browser:NM_138733, UniProtKB:P07205 No chr6 49753364 49755053 49785651 49787340 +PA33240 25796 HGNC:8903 ENSG00000130313 6-phosphogluconolactonase PGLS 6PGL Yes No Comparative Toxicogenomics Database:25796, Ensembl:ENSG00000130313, GenAtlas:PGLS, GeneCard:PGLS, HGNC:HGNC:8903, HumanCyc Gene:HS05370, ModBase:O95336, NCBI Gene:25796, OMIM:604951, RefSeq DNA:NT_011295, RefSeq Protein:NP_036220, RefSeq RNA:NM_012088, UCSC Genome Browser:NM_012088, UniProtKB:O95336 No chr19 17622278 17632097 17511623 17521291 +PA33241 8993 HGNC:8904 ENSG00000008438 peptidoglycan recognition protein 1 PGLYRP1 PGLYRP, PGRP, PGRP-S, PGRPS, TAG7, TNFSF3L Yes No Comparative Toxicogenomics Database:8993, Ensembl:ENSG00000008438, GenAtlas:PGLYRP1, GeneCard:PGLYRP1, HGNC:HGNC:8904, HumanCyc Gene:HS00247, ModBase:O75594, NCBI Gene:8993, OMIM:604963, RefSeq DNA:NT_011109, RefSeq Protein:NP_005082, RefSeq RNA:NM_005091, UCSC Genome Browser:NM_005091, UniProtKB:O75594 No chr19 46522411 46526556 46019153 46023298 +PA134929965 114770 HGNC:30013 ENSG00000161031 peptidoglycan recognition protein 2 PGLYRP2 N-acetylmuramoyl-L-alanine amidase, peptidoglycan recognition protein L precursor, peptidoglycan recognition protein-like PGLYRPL, PGRP-L, PGRPL, TAGL-like, tagL, tagL-alpha, tagl-beta Yes No Comparative Toxicogenomics Database:114770, Ensembl:ENSG00000161031, GeneCard:PGLYRP2, HGNC:HGNC:30013, HumanCyc Gene:HS08567, ModBase:Q96PD5, NCBI Gene:114770, OMIM:608199, RefSeq DNA:NT_011295, RefSeq Protein:NP_443122, RefSeq RNA:NM_052890, UniProtKB:Q96PD5 No chr19 15579456 15590315 15468645 15479504 +PA134861692 114771 HGNC:30014 ENSG00000159527 peptidoglycan recognition protein 3 PGLYRP3 peptidoglycan recognition protein I alpha precursor PGLYRPIalpha, PGRP-Ialpha, PGRPIA Yes No Ensembl:ENSG00000159527, GeneCard:PGLYRP3, HGNC:HGNC:30014, HumanCyc Gene:HS08409, ModBase:Q96LB9, NCBI Gene:114771, OMIM:608197, RefSeq DNA:NT_004487, RefSeq Protein:NP_443123, RefSeq RNA:NM_052891, UniProtKB:Q96LB9 No chr1 153270338 153283194 153297589 153312975 +PA134902492 57115 HGNC:30015 ENSG00000163218 peptidoglycan recognition protein 4 PGLYRP4 peptidoglycan recognition protein I beta precursor PGLYRPIbeta, PGRP-Ibeta, PGRPIB, SBBI67 Yes Yes Ensembl:ENSG00000163218, GeneCard:PGLYRP4, HGNC:HGNC:30015, HumanCyc Gene:HS08808, ModBase:Q96LB8, NCBI Gene:57115, OMIM:608198, RefSeq DNA:NT_004487, RefSeq Protein:NP_065126, RefSeq RNA:NM_020393, UniProtKB:Q96LB8 No chr1 153302596 153321039 153327410 153348844 +PA33242 5236 HGNC:8905 ENSG00000079739 phosphoglucomutase 1 PGM1 Yes Yes Comparative Toxicogenomics Database:5236, Ensembl:ENSG00000079739, GenAtlas:PGM1, GeneCard:PGM1, HGNC:HGNC:8905, HumanCyc Gene:HS01335, ModBase:P36871, NCBI Gene:5236, OMIM:171900, OMIM:612934, RefSeq DNA:NG_016966, RefSeq DNA:NT_032977, RefSeq Protein:NP_001166289, RefSeq Protein:NP_001166290, RefSeq Protein:NP_002624, RefSeq RNA:NM_001172818, RefSeq RNA:NM_001172819, RefSeq RNA:NM_002633, UCSC Genome Browser:NM_002633, UniProtKB:B4DDQ8, UniProtKB:B4DPV0, UniProtKB:B7Z6C2, UniProtKB:P36871 No chr1 64058947 64125916 63593276 63660245 +PA33243 55276 HGNC:8906 ENSG00000169299 phosphoglucomutase 2 PGM2 phosphopentomutase FLJ10983 Yes No Ensembl:ENSG00000169299, GenAtlas:PGM2, GeneCard:PGM2, HGNC:HGNC:8906, HumanCyc Gene:HS09924, ModBase:Q96G03, NCBI Gene:55276, OMIM:172000, RefSeq DNA:NT_016297, RefSeq Protein:NP_060760, RefSeq RNA:NM_018290, UniProtKB:Q96G03 No chr4 37828282 37864559 37826660 37862938 +PA134938366 283209 HGNC:20898 ENSG00000165434 phosphoglucomutase 2 like 1 PGM2L1 """glucose-1,6-bisphosphate synthase"", ""phosphoglucomutase 2-like 1""" BM32A, FLJ32029 Yes No Comparative Toxicogenomics Database:283209, Ensembl:ENSG00000165434, GeneCard:PGM2L1, HGNC:HGNC:20898, HumanCyc Gene:HS09231, ModBase:Q6PCE3, NCBI Gene:283209, OMIM:611610, RefSeq DNA:NT_167190, RefSeq Protein:NP_775853, RefSeq RNA:NM_173582, UniProtKB:Q6PCE3 No chr11 74041361 74109502 74330312 74398465 +PA33244 5238 HGNC:8907 ENSG00000013375 phosphoglucomutase 3 PGM3 acetylglucosamine phosphomutase, phosphoacetylglucosamine mutase AGM1, DKFZP434B187, PAGM Yes No Comparative Toxicogenomics Database:5238, Ensembl:ENSG00000013375, GenAtlas:PGM3, GeneCard:PGM3, HGNC:HGNC:8907, HumanCyc Gene:HS00347, ModBase:O95394, NCBI Gene:5238, OMIM:172100, RefSeq DNA:NT_007299, RefSeq Protein:NP_001186846, RefSeq Protein:NP_001186847, RefSeq Protein:NP_001186848, RefSeq Protein:NP_056414, RefSeq RNA:NM_001199917, RefSeq RNA:NM_001199918, RefSeq RNA:NM_001199919, RefSeq RNA:NM_015599, UCSC Genome Browser:NM_015599, UniProtKB:O95394 No chr6 83874592 83903655 83150728 83193936 +PA33245 5239 HGNC:8908 ENSG00000154330 phosphoglucomutase 5 PGM5 phosphoglucomutase-related protein PGMRP Yes No Ensembl:ENSG00000154330, GenAtlas:PGM5, GeneCard:PGM5, HGNC:HGNC:8908, HumanCyc Gene:HS07974, ModBase:Q15124, NCBI Gene:5239, OMIM:600981, RefSeq DNA:NT_008470, RefSeq Protein:NP_068800, RefSeq RNA:NM_021965, UCSC Genome Browser:NM_021965, UniProtKB:Q15124 No chr9 70971815 71145977 68356438 68531061 +PA142671178 653394 HGNC:28452 phosphoglucomutase 5 pseudogene 1 PGM5P1 Yes No GeneCard:PGM5P1, HGNC:HGNC:28452, NCBI Gene:653394, RefSeq DNA:NG_005636, RefSeq DNA:NT_078068 No chr9 68773919 68809958 +PA142671179 595135 HGNC:18965 ENSG00000277778 phosphoglucomutase 5 pseudogene 2 PGM5P2 Yes No Ensembl:ENSG00000277778, GeneCard:PGM5P2, HGNC:HGNC:18965, NCBI Gene:595135, RefSeq DNA:NT_078070, RefSeq RNA:NR_002836 No chr9 69080240 69147854 41007011 41074625 +PA33246 283871 HGNC:8909 ENSG00000184207 phosphoglycolate phosphatase PGP Yes No Ensembl:ENSG00000184207, GenAtlas:PGP, GeneCard:PGP, HGNC:HGNC:8909, HumanCyc Gene:HS11952, ModBase:A6NDG6, NCBI Gene:283871, OMIM:172280, RefSeq DNA:NT_010393, RefSeq Protein:NP_001035830, RefSeq RNA:NM_001042371, UniProtKB:A6NDG6 No chr16 2261603 2264822 2211602 2214827 +PA33247 54858 HGNC:13568 ENSG00000130517 pyroglutamyl-peptidase I PGPEP1 pyroglutamyl aminopeptidase PGP, PGP-I, PGPI, Pcp Yes No Comparative Toxicogenomics Database:54858, Ensembl:ENSG00000130517, GenAtlas:PGPEP1, GeneCard:PGPEP1, HGNC:HGNC:13568, HumanCyc Gene:HS05394, ModBase:Q9NXJ5, NCBI Gene:54858, OMIM:610694, RefSeq DNA:NT_011295, RefSeq Protein:NP_060182, RefSeq RNA:NM_017712, UCSC Genome Browser:NM_017712, UniProtKB:Q9NXJ5 No chr19 18451397 18480763 18340573 18369953 +PA165479208 145814 HGNC:27080 ENSG00000183571 pyroglutamyl-peptidase I like PGPEP1L pyroglutamyl-peptidase I-like Yes No Ensembl:ENSG00000183571, GeneCard:PGPEP1L, HGNC:HGNC:27080, NCBI Gene:145814, RefSeq DNA:NT_010274, RefSeq Protein:NP_001096082, RefSeq Protein:NP_001161374, RefSeq RNA:NM_001102612, RefSeq RNA:NM_001167902, UniProtKB:A6NFU8 No chr15 99511459 99551024 98968230 99007795 +PA266 5241 HGNC:8910 ENSG00000082175 progesterone receptor PGR NR3C3, PR Yes Yes Comparative Toxicogenomics Database:5241, Ensembl:ENSG00000082175, GenAtlas:PGR, GeneCard:PGR, HGNC:HGNC:8910, HumanCyc Gene:HS01415, ModBase:P06401, NCBI Gene:5241, OMIM:607311, RefSeq DNA:NG_016475, RefSeq DNA:NT_033899, RefSeq Protein:NP_000917, RefSeq Protein:NP_001189403, RefSeq RNA:NM_000926, RefSeq RNA:NM_001202474, UCSC Genome Browser:NM_000926, UniProtKB:P06401 No chr11 100900355 101000544 101029624 101130681 +PA33248 10857 HGNC:16090 ENSG00000101856 progesterone receptor membrane component 1 PGRMC1 HPR6.6 Yes No Comparative Toxicogenomics Database:10857, Ensembl:ENSG00000101856, GenAtlas:PGRMC1, GeneCard:PGRMC1, HGNC:HGNC:16090, HumanCyc Gene:HS02309, ModBase:O00264, NCBI Gene:10857, OMIM:300435, RefSeq DNA:NG_016756, RefSeq DNA:NT_011786, RefSeq Protein:NP_006658, RefSeq RNA:NM_006667, UCSC Genome Browser:NM_006667, UniProtKB:O00264, UniProtKB:Q6IB11 No chrX 118370211 118378429 119236245 119244466 +PA33249 10424 HGNC:16089 ENSG00000164040 progesterone receptor membrane component 2 PGRMC2 DG6, PMBP Yes Yes Comparative Toxicogenomics Database:10424, Ensembl:ENSG00000164040, GenAtlas:PGRMC2, GeneCard:PGRMC2, HGNC:HGNC:16089, HumanCyc Gene:HS08988, ModBase:O15173, NCBI Gene:10424, OMIM:607735, RefSeq DNA:NT_016354, RefSeq Protein:NP_006311, RefSeq RNA:NM_006320, UCSC Genome Browser:NM_006320 No chr4 129190392 129209984 128269237 128288829 +PA142671180 9489 HGNC:30029 ENSG00000087157 phosphatidylglycerophosphate synthase 1 PGS1 DKFZP762M186 Yes No Comparative Toxicogenomics Database:9489, Ensembl:ENSG00000087157, GeneCard:PGS1, HGNC:HGNC:30029, HumanCyc Gene:HS01560, ModBase:Q32NB8, NCBI Gene:9489, RefSeq DNA:NT_010783, RefSeq Protein:NP_077733, RefSeq RNA:NM_024419, UniProtKB:Q32NB8 No chr17 76374705 76420740 78378618 78424659 +PA134923900 221692 HGNC:20990 ENSG00000112137 phosphatase and actin regulator 1 PHACTR1 KIAA1733, RPEL1, dJ257A7.2 Yes Yes Comparative Toxicogenomics Database:221692, Ensembl:ENSG00000112137, GeneCard:PHACTR1, HGNC:HGNC:20990, ModBase:Q9C0D0, NCBI Gene:221692, OMIM:608723, RefSeq DNA:NT_007592, RefSeq Protein:NP_001229577, RefSeq Protein:NP_112210, RefSeq RNA:NM_001242648, RefSeq RNA:NM_030948, UniProtKB:Q9C0D0 No chr6 12716888 13290476 12716635 13290484 +PA134944445 9749 HGNC:20956 ENSG00000112419 phosphatase and actin regulator 2 PHACTR2 C6orf56, KIAA0680 Yes No Comparative Toxicogenomics Database:9749, Ensembl:ENSG00000112419, GeneCard:PHACTR2, HGNC:HGNC:20956, HumanCyc Gene:HS12775, ModBase:O75167, NCBI Gene:9749, OMIM:608724, RefSeq DNA:NT_025741, RefSeq Protein:NP_001093634, RefSeq Protein:NP_001093635, RefSeq Protein:NP_001093636, RefSeq Protein:NP_055536, RefSeq RNA:NM_001100164, RefSeq RNA:NM_001100165, RefSeq RNA:NM_001100166, RefSeq RNA:NM_014721, UniProtKB:B4DTH7, UniProtKB:O75167 No chr6 143929317 144152322 143608180 143831185 +PA128394750 116154 HGNC:15833 ENSG00000087495 phosphatase and actin regulator 3 PHACTR3 protein phosphatase 1, regulatory subunit 123 C20orf101, PPP1R123 Yes No Ensembl:ENSG00000087495, GenAtlas:PHACTR3, GeneCard:PHACTR3, HGNC:HGNC:15833, HumanCyc Gene:HS12297, ModBase:Q96KR7, NCBI Gene:116154, OMIM:608725, RefSeq DNA:NT_011362, RefSeq Protein:NP_001186434, RefSeq Protein:NP_001186435, RefSeq Protein:NP_542403, RefSeq Protein:NP_899067, RefSeq Protein:NP_899069, RefSeq RNA:NM_001199505, RefSeq RNA:NM_001199506, RefSeq RNA:NM_080672, RefSeq RNA:NM_183244, RefSeq RNA:NM_183246, UCSC Genome Browser:NM_080672, UniProtKB:B1AN68, UniProtKB:Q96KR7 No chr20 58152564 58422766 59577497 59849829 +PA134959472 65979 HGNC:25793 ENSG00000204138 phosphatase and actin regulator 4 PHACTR4 protein phosphatase 1, regulatory subunit 124 FLJ13171, PPP1R124 Yes No Ensembl:ENSG00000204138, GeneCard:PHACTR4, HGNC:HGNC:25793, ModBase:Q8IZ21, NCBI Gene:65979, OMIM:608726, RefSeq DNA:NT_004610, RefSeq Protein:NP_001041648, RefSeq Protein:NP_076412, RefSeq RNA:NM_001048183, RefSeq RNA:NM_023923, UniProtKB:Q8IZ21 No chr1 28696093 28826881 28369574 28500369 +PA166352047 80262 HGNC:29564 phagophore assembly factor 1 PHAF1 macro-autophagy and youth optimizer C16orf6, C16orf70, FLJ12076, LIN10, MYTHO, lin-10 Yes No HGNC:HGNC:29564, NCBI Gene:80262 No 0 0 0 0 +PA164724444 51808 HGNC:10241 ENSG00000164902 phosphorylated adaptor for RNA export PHAX FLJ13193, RNUXA Yes No Ensembl:ENSG00000164902, GeneCard:PHAX, HGNC:HGNC:10241, HumanCyc Gene:HS11808, ModBase:Q9H814, NCBI Gene:51808, OMIM:604924, RefSeq DNA:NT_034772, RefSeq Protein:NP_115553, RefSeq RNA:NM_032177, UniProtKB:Q9H814 No chr5 125936607 125962944 126600915 126627252 +PA33251 5245 HGNC:8912 ENSG00000167085 prohibitin 1 PHB1 prohibitin BAP32, PHB, PHB1 Yes No Comparative Toxicogenomics Database:5245, Ensembl:ENSG00000167085, GenAtlas:PHB, GeneCard:PHB, HGNC:HGNC:8912, HumanCyc Gene:HS09508, ModBase:P35232, NCBI Gene:5245, OMIM:114480, OMIM:176705, RefSeq DNA:NG_023046, RefSeq DNA:NT_010783, RefSeq Protein:NP_002625, RefSeq RNA:NM_002634, UCSC Genome Browser:NM_002634, UniProtKB:A8K401, UniProtKB:P35232 No chr17 47481410 47492267 49404048 49414905 +PA142671181 11331 HGNC:30306 ENSG00000215021 prohibitin 2 PHB2 B cell receptor associated protein 37 BCAP37, Bap37, REA, p22 Yes Yes Comparative Toxicogenomics Database:11331, Ensembl:ENSG00000215021, GeneCard:PHB2, HGNC:HGNC:30306, ModBase:Q99623, NCBI Gene:11331, OMIM:610704, RefSeq DNA:NT_009759, RefSeq Protein:NP_001138303, RefSeq Protein:NP_009204, RefSeq RNA:NM_001144831, RefSeq RNA:NM_007273, UniProtKB:Q99623 No chr12 7074515 7079981 6965352 6970823 +PA27619 1911 HGNC:3182 ENSG00000111752 polyhomeotic homolog 1 PHC1 polyhomeotic homolog 1 (Drosophila) EDR1, HPH1, RAE28 Yes Yes Comparative Toxicogenomics Database:1911, Ensembl:ENSG00000111752, GeneCard:PHC1, HGNC:HGNC:3182, HumanCyc Gene:HS03461, HumanCyc Gene:HS11423, ModBase:P78364, NCBI Gene:1911, OMIM:602978, RefSeq DNA:NT_009714, RefSeq Protein:NP_004417, RefSeq RNA:NM_004426, UCSC Genome Browser:NM_004426, UniProtKB:P78364, UniProtKB:Q6GMQ3 No chr12 9067292 9094063 8914664 8941467 +PA162399294 653441 HGNC:34502 ENSG00000179899 polyhomeotic homolog 1 (Drosophila) pseudogene 1 PHC1P1 Yes No Ensembl:ENSG00000179899, GeneCard:PHC1P1, HGNC:HGNC:34502, NCBI Gene:653441, RefSeq DNA:NG_009754, RefSeq DNA:NT_029419 No chr12 55803470 55808727 55409686 55414943 +PA27620 1912 HGNC:3183 ENSG00000134686 polyhomeotic homolog 2 PHC2 polyhomeotic homolog 2 (Drosophila) EDR2, HPH2 Yes No Comparative Toxicogenomics Database:1912, Ensembl:ENSG00000134686, GeneCard:PHC2, HGNC:HGNC:3183, HumanCyc Gene:HS05900, ModBase:Q96BL4, NCBI Gene:1912, OMIM:602979, RefSeq DNA:NT_032977, RefSeq Protein:NP_004418, RefSeq Protein:NP_932157, RefSeq RNA:NM_004427, RefSeq RNA:NM_198040, UCSC Genome Browser:NM_004427, UniProtKB:Q8IXK0 No chr1 33789224 33841194 33323623 33431017 +PA134886018 80012 HGNC:15682 ENSG00000173889 polyhomeotic homolog 3 PHC3 early development regulator 3, polyhomeotic homolog 3 (Drosophila), polyhomeotic like 3 EDR3, FLJ12729, FLJ12967, HPH3 Yes No Ensembl:ENSG00000173889, GeneCard:PHC3, HGNC:HGNC:15682, HumanCyc Gene:HS16268, ModBase:Q8NDX5, NCBI Gene:80012, RefSeq DNA:NT_005612, RefSeq Protein:NP_079223, RefSeq RNA:NM_024947, UniProtKB:Q8NDX5 No chr3 169805368 169899537 170087580 170181779 +PA143485466 144717 HGNC:26509 ENSG00000198324 PH domain containing endocytic trafficking adaptor 1 PHETA1 """Sesquipedalian-1"", ""family with sequence similarity 109, member A"", ""inositol polyphosphate phosphatase-interacting protein A""" FAM109A, FLJ32356, IPIP27A, SES1 Yes No Comparative Toxicogenomics Database:144717, Ensembl:ENSG00000198324, GeneCard:FAM109A, HGNC:HGNC:26509, ModBase:Q8N4B1, NCBI Gene:144717, RefSeq DNA:NG_021347, RefSeq DNA:NT_009775, RefSeq Protein:NP_001171467, RefSeq Protein:NP_001171468, RefSeq Protein:NP_653272, RefSeq RNA:NM_001177996, RefSeq RNA:NM_001177997, RefSeq RNA:NM_144671, UniProtKB:Q8N4B1 No chr12 111798455 111806925 111360651 111369121 +PA143485467 150368 HGNC:27161 ENSG00000177096 PH domain containing endocytic trafficking adaptor 2 PHETA2 """Sesquipedalian-2"", ""family with sequence similarity 109, member B"", ""inositol polyphosphate phosphatase-interacting protein B""" DKFZp686J07229, FAM109B, IPIP27B, SES2 Yes Yes Ensembl:ENSG00000177096, GeneCard:FAM109B, HGNC:HGNC:27161, ModBase:Q6ICB4, NCBI Gene:150368, RefSeq DNA:NT_011520, RefSeq Protein:NP_001002034, RefSeq RNA:NM_001002034, UniProtKB:Q6ICB4 No chr22 42470255 42475445 42074244 42079438 +PA33258 5251 HGNC:8918 ENSG00000102174 phosphate regulating endopeptidase X-linked PHEX """PHEX peptidase"", ""Phosphate-regulating neutral endopeptidase"", ""phosphate regulating endopeptidase homolog X-linked"", ""phosphate regulating endopeptidase homolog, X-linked""" HPDR, HPDR1, HYP, HYP1, PEX, XLH Yes No Comparative Toxicogenomics Database:5251, Ensembl:ENSG00000102174, GenAtlas:PHEX, GeneCard:PHEX, HGNC:HGNC:8918, HumanCyc Gene:HS02363, ModBase:P78562, NCBI Gene:5251, OMIM:300550, OMIM:307800, RefSeq DNA:NG_007563, RefSeq DNA:NT_167197, RefSeq Protein:NP_000435, RefSeq RNA:NM_000444, UCSC Genome Browser:NM_000444, UniProtKB:P78562 No chrX 22050921 22266478 22032327 22251310 +PA33259 5252 HGNC:8919 ENSG00000112511, ENSG00000225553 PHD finger protein 1 PHF1 polycomb-like 1, tudor domain containing 19C MTF2L2, PCL1, TDRD19C Yes No Comparative Toxicogenomics Database:5252, Ensembl:ENSG00000112511, Ensembl:ENSG00000225553, GenAtlas:PHF1, GeneCard:PHF1, HGNC:HGNC:8919, HumanCyc Gene:HS03583, ModBase:O43189, NCBI Gene:5252, OMIM:602881, RefSeq DNA:NT_007592, RefSeq DNA:NT_167249, RefSeq Protein:NP_002627, RefSeq Protein:NP_077084, RefSeq RNA:NM_002636, RefSeq RNA:NM_024165, RefSeq RNA:NR_027692, UCSC Genome Browser:NM_002636, UniProtKB:O43189 No chr6 33378773 33384230 33410751 33416453 +PA134972675 55274 HGNC:18250 ENSG00000130024 PHD finger protein 10 PHF10 BAF45a, FLJ10975, SMARCG4, XAP135 Yes No Comparative Toxicogenomics Database:55274, Ensembl:ENSG00000130024, GeneCard:PHF10, HGNC:HGNC:18250, HumanCyc Gene:HS05330, ModBase:Q8WUB8, NCBI Gene:55274, OMIM:613069, RefSeq DNA:NT_025741, RefSeq Protein:NP_060758, RefSeq Protein:NP_579866, RefSeq RNA:NM_018288, RefSeq RNA:NM_133325, UniProtKB:Q8WUB8 No chr6 170104001 170124106 169703902 169724049 +PA134937462 158905 HGNC:23210 ENSG00000228986 PHD finger protein 10 pseudogene 1 PHF10P1 XAP135P Yes No Ensembl:ENSG00000228986, GeneCard:PHF10P1, HGNC:HGNC:23210, NCBI Gene:158905, RefSeq DNA:NG_005114, RefSeq DNA:NT_167198 No chrX 154521164 154522831 155291939 155293441 +PA134947696 51131 HGNC:17024 ENSG00000136147 PHD finger protein 11 PHF11 IgE responsiveness (atopic) BCAP, IGER, NY-REN-34 Yes No Comparative Toxicogenomics Database:51131, Ensembl:ENSG00000136147, GeneCard:PHF11, HGNC:HGNC:17024, HumanCyc Gene:HS06119, ModBase:Q9UIL8, NCBI Gene:51131, OMIM:147050, OMIM:600807, OMIM:607796, RefSeq DNA:NT_024524, RefSeq Protein:NP_001035533, RefSeq Protein:NP_001035534, RefSeq RNA:NM_001040443, RefSeq RNA:NM_001040444, UniProtKB:Q9UIL8 No chr13 50069746 50103123 49495610 49528992 +PA134954478 57649 HGNC:20816 ENSG00000109118 PHD finger protein 12 PHF12 KIAA1523, PF1 Yes No Ensembl:ENSG00000109118, GeneCard:PHF12, HGNC:HGNC:20816, ModBase:Q96QT6, NCBI Gene:57649, RefSeq DNA:NT_010799, RefSeq Protein:NP_001028733, RefSeq Protein:NP_065940, RefSeq RNA:NM_001033561, RefSeq RNA:NM_020889, UniProtKB:Q96QT6 No chr17 27232264 27278622 28905250 28951490 +PA134901883 148479 HGNC:22983 ENSG00000116273 PHD finger protein 13 PHF13 MGC43399 Yes No Comparative Toxicogenomics Database:148479, Ensembl:ENSG00000116273, GeneCard:PHF13, HGNC:HGNC:22983, HumanCyc Gene:HS04004, ModBase:Q86YI8, NCBI Gene:148479, RefSeq DNA:NT_021937, RefSeq Protein:NP_722519, RefSeq RNA:NM_153812, UniProtKB:B3KUQ7, UniProtKB:Q86YI8 No chr1 6673756 6684093 6613696 6624033 +PA134867397 9678 HGNC:22203 ENSG00000106443 PHD finger protein 14 PHF14 KIAA0783 Yes No Comparative Toxicogenomics Database:9678, Ensembl:ENSG00000106443, GeneCard:PHF14, HGNC:HGNC:22203, HumanCyc Gene:HS02909, ModBase:O94880, NCBI Gene:9678, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001007158, RefSeq Protein:NP_055475, RefSeq RNA:NM_001007157, RefSeq RNA:NM_014660, RefSeq RNA:NR_033435, RefSeq RNA:NR_033436, UniProtKB:B4DG57, UniProtKB:O94880 No chr7 11013495 11209250 10973834 11188565 +PA134911501 26147 HGNC:24566 ENSG00000119403 PHD finger protein 19 PHF19 polycomb-like 3, tudor domain containing 19B DKFZP727G051, MTF2L1, PCL3, TDRD19B Yes No Ensembl:ENSG00000119403, GeneCard:PHF19, HGNC:HGNC:24566, ModBase:Q5T6S3, NCBI Gene:26147, OMIM:609740, RefSeq DNA:NT_008470, RefSeq Protein:NP_001009936, RefSeq Protein:NP_056466, RefSeq RNA:NM_001009936, RefSeq RNA:NM_015651, UniProtKB:B3KV88, UniProtKB:Q5T6S3 No chr9 123617929 123657168 120855651 120901967 +PA33260 5253 HGNC:8920 ENSG00000197724 PHD finger protein 2 PHF2 centromere protein 35, jumonji C domain-containing histone demethylase 1E CENP-35, JHDM1E, KDM7C, KIAA0662 Yes No Ensembl:ENSG00000197724, GenAtlas:PHF2, GeneCard:PHF2, HGNC:HGNC:8920, ModBase:O75151, NCBI Gene:5253, OMIM:604351, RefSeq DNA:NT_008470, RefSeq Protein:NP_005383, RefSeq RNA:NM_005392, UCSC Genome Browser:NM_005392, UniProtKB:O75151 No chr9 96338909 96441869 93576627 93679587 +PA25644 51230 HGNC:16098 ENSG00000025293 PHD finger protein 20 PHF20 tudor domain containing 20A C20orf104, TDRD20A, dJ1121G12.1 Yes No Comparative Toxicogenomics Database:51230, Ensembl:ENSG00000025293, GenAtlas:PHF20, GeneCard:PHF20, HGNC:HGNC:16098, HumanCyc Gene:HS00439, ModBase:Q9NZ22, NCBI Gene:51230, OMIM:610335, RefSeq DNA:NT_011362, RefSeq Protein:NP_057520, RefSeq RNA:NM_016436, UCSC Genome Browser:NM_016436, UniProtKB:Q566Q2, UniProtKB:Q9BVI0 No chr20 34359923 34538292 35771999 35950377 +PA134874888 51105 HGNC:24280 ENSG00000129292 PHD finger protein 20 like 1 PHF20L1 PHD finger protein 20-like 1, tudor domain containing 20B CGI-72, FLJ13649, FLJ21615, MGC64923, TDRD20B Yes No Comparative Toxicogenomics Database:51105, Ensembl:ENSG00000129292, GeneCard:PHF20L1, HGNC:HGNC:24280, HumanCyc Gene:HS05267, ModBase:Q86U89, NCBI Gene:51105, RefSeq DNA:NT_008046, RefSeq Protein:NP_057102, RefSeq Protein:NP_115581, RefSeq Protein:NP_940915, RefSeq RNA:NM_016018, RefSeq RNA:NM_032205, RefSeq RNA:NM_198513, UniProtKB:A8MW92, UniProtKB:Q9H8G4 No chr8 133787604 133861052 132775358 132848807 +PA134977844 51317 HGNC:24156 ENSG00000135365 PHD finger protein 21A PHF21A BHC80, BM-006, KIAA1696 Yes No Comparative Toxicogenomics Database:51317, Ensembl:ENSG00000135365, GeneCard:PHF21A, HGNC:HGNC:24156, HumanCyc Gene:HS05988, ModBase:Q96BD5, NCBI Gene:51317, OMIM:608325, RefSeq DNA:NT_009237, RefSeq Protein:NP_001095272, RefSeq Protein:NP_057705, RefSeq RNA:NM_001101802, RefSeq RNA:NM_016621, UniProtKB:Q96BD5 No chr11 45950870 46142985 45929319 46121434 +PA134872136 112885 HGNC:25161 ENSG00000056487 PHD finger protein 21B PHF21B BHC80L, FLJ34161, PHF4 Yes No Ensembl:ENSG00000056487, GeneCard:PHF21B, HGNC:HGNC:25161, HumanCyc Gene:HS00695, ModBase:Q96EK2, NCBI Gene:112885, RefSeq DNA:NT_011520, RefSeq Protein:NP_001129334, RefSeq Protein:NP_001229379, RefSeq Protein:NP_612424, RefSeq RNA:NM_001135862, RefSeq RNA:NM_001242450, RefSeq RNA:NM_138415, UniProtKB:Q96EK2 No chr22 45277042 45405809 44881162 45009928 +PA142671175 79142 HGNC:28428 ENSG00000040633 PHD finger protein 23 PHF23 FLJ16355, MGC2941 Yes No Comparative Toxicogenomics Database:79142, Ensembl:ENSG00000040633, GeneCard:PHF23, HGNC:HGNC:28428, HumanCyc Gene:HS00550, ModBase:Q9BUL5, NCBI Gene:79142, OMIM:612910, RefSeq DNA:NT_010718, RefSeq Protein:NP_077273, RefSeq RNA:NM_024297, UniProtKB:Q9BUL5 No chr17 7138347 7142825 7235028 7239506 +PA134993280 23349 HGNC:29180 ENSG00000122733 PHD finger protein 24 PHF24 Gα inhibitory interacting protein, Gα inhibitory interacting protein GINIP, KIAA1045 Yes No Ensembl:ENSG00000122733, GeneCard:KIAA1045, HGNC:HGNC:29180, ModBase:Q9UPV7, NCBI Gene:23349, RefSeq DNA:NT_008413, RefSeq Protein:NP_056112, RefSeq RNA:NM_015297, UniProtKB:Q9UPV7 No chr9 34957484 34982541 34810040 34982544 +PA165505339 100873793 HGNC:38808 ENSG00000226057 PHD finger protein 2 pseudogene 2 PHF2P2 Yes No Ensembl:ENSG00000226057, HGNC:HGNC:38808, NCBI Gene:100873793 No chr13 19520864 19527032 18946755 18965392 +PA33261 23469 HGNC:8921 ENSG00000118482 PHD finger protein 3 PHF3 Yes No Comparative Toxicogenomics Database:23469, Ensembl:ENSG00000118482, GenAtlas:PHF3, GeneCard:PHF3, HGNC:HGNC:8921, HumanCyc Gene:HS04220, ModBase:Q92576, NCBI Gene:23469, OMIM:607789, RefSeq DNA:NT_007299, RefSeq Protein:NP_055968, RefSeq RNA:NM_015153, UCSC Genome Browser:NM_015153, UniProtKB:Q92576 No chr6 64345707 64424407 63635802 63715522 +PA134876104 84844 HGNC:18000 ENSG00000100410 PHD finger protein 5A PHF5A splicing factor 3b, subunit 7 INI, MGC1346, Rds3, SAP14b, SF3B7, SF3b14b, bK223H9.2 Yes No Comparative Toxicogenomics Database:84844, Ensembl:ENSG00000100410, GeneCard:PHF5A, HGNC:HGNC:18000, HumanCyc Gene:HS02076, ModBase:Q7RTV0, NCBI Gene:84844, RefSeq DNA:NT_011520, RefSeq Protein:NP_116147, RefSeq RNA:NM_032758, UniProtKB:Q7RTV0 No chr22 41855721 41864708 41459717 41468704 +PA142671176 450232 HGNC:32385 ENSG00000267178 PHD finger protein 5C pseudogene PHF5CP Yes No Ensembl:ENSG00000267178, HGNC:HGNC:32385, NCBI Gene:450232, RefSeq DNA:NG_004711, RefSeq DNA:NT_011295 No chr19 19698415 19699248 19587606 19588439 +PA33263 84295 HGNC:18145 ENSG00000156531 PHD finger protein 6 PHF6 centromere protein 31 BFLS, BORJ, CENP-31, KIAA1823, MGC14797 Yes No Comparative Toxicogenomics Database:84295, Ensembl:ENSG00000156531, GenAtlas:PHF6, GeneCard:PHF6, HGNC:HGNC:18145, HumanCyc Gene:HS08138, ModBase:Q8IWS0, NCBI Gene:84295, OMIM:300414, OMIM:301900, RefSeq DNA:NG_008886, RefSeq DNA:NT_011786, RefSeq Protein:NP_001015877, RefSeq Protein:NP_115711, RefSeq Protein:NP_115834, RefSeq RNA:NM_001015877, RefSeq RNA:NM_032335, RefSeq RNA:NM_032458, UCSC Genome Browser:NM_032335, UniProtKB:A8K230, UniProtKB:Q8IWS0 No chrX 133507324 133562822 134373312 134428792 +PA38541 51533 HGNC:18458 ENSG00000010318 PHD finger protein 7 PHF7 HSPC226, NYD-SP6 Yes No Comparative Toxicogenomics Database:51533, Ensembl:ENSG00000010318, GenAtlas:PHF7, GeneCard:PHF7, HGNC:HGNC:18458, HumanCyc Gene:HS12036, ModBase:Q9BWX1, NCBI Gene:51533, RefSeq DNA:NT_022517, RefSeq Protein:NP_057567, RefSeq Protein:NP_775463, RefSeq RNA:NM_016483, RefSeq RNA:NM_173341, UCSC Genome Browser:NM_016483, UniProtKB:A6NGR3, UniProtKB:Q9BWX1, UniProtKB:Q9NS08 No chr3 52444577 52457657 52410508 52423641 +PA134889361 23133 HGNC:20672 ENSG00000172943 PHD finger protein 8 PHF8 histone lysine demethylase PHF8, jumonji C domain-containing histone demethylase 1F, lysine demethylase 7B, zinc finger protein 422 JHDM1F, KDM7B, KIAA1111, ZNF422 Yes No Comparative Toxicogenomics Database:23133, Ensembl:ENSG00000172943, GeneCard:PHF8, HGNC:HGNC:20672, ModBase:Q9UPP1, NCBI Gene:23133, OMIM:300263, OMIM:300560, RefSeq DNA:NG_021309, RefSeq DNA:NT_011630, RefSeq Protein:NP_001171825, RefSeq Protein:NP_001171826, RefSeq Protein:NP_001171827, RefSeq Protein:NP_055922, RefSeq RNA:NM_001184896, RefSeq RNA:NM_001184897, RefSeq RNA:NM_001184898, RefSeq RNA:NM_015107, UniProtKB:B7Z911, UniProtKB:Q5JPS0, UniProtKB:Q9UPP1 No chrX 53963113 54075368 53936680 54048935 +PA33264 26227 HGNC:8923 ENSG00000092621 phosphoglycerate dehydrogenase PHGDH D-3-phosphoglycerate dehydrogenase PDG, PGDH, SERA Yes No Comparative Toxicogenomics Database:26227, Ensembl:ENSG00000092621, GenAtlas:PHGDH, GeneCard:PHGDH, HGNC:HGNC:8923, HumanCyc Gene:HS01776, ModBase:O43175, NCBI Gene:26227, OMIM:601815, OMIM:606879, RefSeq DNA:NG_009188, RefSeq DNA:NT_032977, RefSeq Protein:NP_006614, RefSeq RNA:NM_006623, UCSC Genome Browser:NM_006623, UniProtKB:O43175 No chr1 120254419 120286849 119711737 119744226 +PA165479224 644844 HGNC:37226 ENSG00000233041 proline, histidine and glycine rich 1 PHGR1 proline/histidine/glycine-rich 1 Yes No Ensembl:ENSG00000233041, GeneCard:PHGR1, HGNC:HGNC:37226, NCBI Gene:644844, RefSeq DNA:NT_010194, RefSeq Protein:NP_001139115, RefSeq RNA:NM_001145643, UniProtKB:C9JFL3 No chr15 40643234 40648635 40351033 40356434 +PA33265 55023 HGNC:15673 ENSG00000146247 pleckstrin homology domain interacting protein PHIP DDB1 and CUL4 associated factor 14 BRWD2, DCAF14, FLJ20705, RepID, WDR11, ndrp Yes No Ensembl:ENSG00000146247, GenAtlas:PHIP, GeneCard:PHIP, HGNC:HGNC:15673, HumanCyc Gene:HS14140, ModBase:Q96ME2, NCBI Gene:55023, OMIM:612870, RefSeq DNA:NT_007299, RefSeq Protein:NP_060404, RefSeq RNA:NM_017934, UCSC Genome Browser:NM_017934, UniProtKB:A7J992, UniProtKB:Q8WWQ0 No chr6 79644136 79788011 78934419 79078294 +PA33266 5255 HGNC:8925 ENSG00000067177 phosphorylase kinase regulatory subunit alpha 1 PHKA1 phosphorylase kinase, alpha 1 (muscle) PHKA Yes No Comparative Toxicogenomics Database:5255, Ensembl:ENSG00000067177, GenAtlas:PHKA1, GeneCard:PHKA1, HGNC:HGNC:8925, HumanCyc Gene:HS00901, ModBase:P46020, NCBI Gene:5255, OMIM:300559, OMIM:311870, RefSeq DNA:NG_016599, RefSeq DNA:NT_011669, RefSeq Protein:NP_001116142, RefSeq Protein:NP_001165907, RefSeq Protein:NP_002628, RefSeq RNA:NM_001122670, RefSeq RNA:NM_001172436, RefSeq RNA:NM_002637, UCSC Genome Browser:NM_002637, UniProtKB:P46020 No chrX 71798664 71934029 72578814 72714181 +PA33267 5256 HGNC:8926 ENSG00000044446 phosphorylase kinase regulatory subunit alpha 2 PHKA2 phosphorylase kinase, alpha 2 (liver) PHK, PYK Yes No Comparative Toxicogenomics Database:5256, Ensembl:ENSG00000044446, GenAtlas:PHKA2, GeneCard:PHKA2, HGNC:HGNC:8926, HumanCyc Gene:HS00576, ModBase:P46019, NCBI Gene:5256, OMIM:300798, OMIM:306000, RefSeq DNA:NG_016622, RefSeq DNA:NT_167197, RefSeq Protein:NP_000283, RefSeq RNA:NM_000292, UCSC Genome Browser:NM_000292, UniProtKB:P46019 No chrX 18910416 19002480 18892298 18984362 +PA33268 5257 HGNC:8927 ENSG00000102893 phosphorylase kinase regulatory subunit beta PHKB phosphorylase kinase, beta Yes No Comparative Toxicogenomics Database:5257, Ensembl:ENSG00000102893, GenAtlas:PHKB, GeneCard:PHKB, HGNC:HGNC:8927, HumanCyc Gene:HS02424, ModBase:Q93100, NCBI Gene:5257, OMIM:172490, OMIM:261750, RefSeq DNA:NG_016598, RefSeq DNA:NT_010498, RefSeq Protein:NP_000284, RefSeq Protein:NP_001027005, RefSeq RNA:NM_000293, RefSeq RNA:NM_001031835, UCSC Genome Browser:NM_000293, UniProtKB:Q93100 No chr16 47495047 47735434 47461131 47701523 +PA33269 5258 HGNC:8928 ENSG00000226262 phosphorylase kinase, beta pseudogene 1 PHKBP1 Yes No Ensembl:ENSG00000226262, GenAtlas:PHKBP1, GeneCard:PHKBP1, HGNC:HGNC:8928, NCBI Gene:5258, RefSeq DNA:NG_001172, RefSeq DNA:NT_011387 No chr20 8078371 8080533 8097724 8099886 +PA33270 5259 HGNC:8929 ENSG00000258467 phosphorylase kinase, beta pseudogene 2 PHKBP2 Yes No Ensembl:ENSG00000258467, GenAtlas:PHKBP2, GeneCard:PHKBP2, HGNC:HGNC:8929, NCBI Gene:5259, RefSeq DNA:NG_001173, RefSeq DNA:NT_026437 No chr14 37003032 37003558 36533827 36534353 +PA33271 5260 HGNC:8930 ENSG00000164776 phosphorylase kinase catalytic subunit gamma 1 PHKG1 phosphorylase kinase, gamma 1 (muscle) PHKG Yes No Ensembl:ENSG00000164776, GenAtlas:PHKG1, GeneCard:PHKG1, HGNC:HGNC:8930, HumanCyc Gene:HS09136, ModBase:Q16816, NCBI Gene:5260, OMIM:172470, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_006204, RefSeq RNA:NM_006213, UCSC Genome Browser:NM_006213, UniProtKB:Q16816, UniProtKB:Q75LP5 No chr7 56147616 56160780 56079927 56093450 +PA33273 5262 HGNC:8932 ENSG00000236919 phosphorylase kinase, gamma 1 pseudogene 3 PHKG1P3 PHKg1ps2 Yes No Ensembl:ENSG00000236919, GenAtlas:PHKGL, GeneCard:PHKG1P3, HGNC:HGNC:8932, NCBI Gene:5262, RefSeq DNA:NG_005543, RefSeq DNA:NT_009237 No chr11 50205648 50206933 50246277 50247762 +PA33272 5261 HGNC:8931 ENSG00000156873 phosphorylase kinase catalytic subunit gamma 2 PHKG2 phosphorylase kinase, gamma 2 (testis) Yes No Comparative Toxicogenomics Database:5261, Ensembl:ENSG00000156873, GenAtlas:PHKG2, GeneCard:PHKG2, HGNC:HGNC:8931, HumanCyc Gene:HS08155, ModBase:P15735, NCBI Gene:5261, OMIM:172471, OMIM:613027, RefSeq DNA:NG_016616, RefSeq DNA:NT_010393, RefSeq Protein:NP_000285, RefSeq Protein:NP_001165903, RefSeq RNA:NM_000294, RefSeq RNA:NM_001172432, UCSC Genome Browser:NM_000294, UniProtKB:B4DEB7, UniProtKB:P15735 No chr16 30759574 30772497 30748299 30761176 +PA33274 22822 HGNC:8933 ENSG00000139289 pleckstrin homology like domain family A member 1 PHLDA1 """T-cell death-associated gene 51"", ""pleckstrin homology-like domain, family A, member 1"", ""proline-histidine rich protein""" DT1P1B11, PHRIP, TDAG51 Yes No Comparative Toxicogenomics Database:22822, Ensembl:ENSG00000139289, GenAtlas:PHLDA1, GeneCard:PHLDA1, HGNC:HGNC:8933, HumanCyc Gene:HS06604, NCBI Gene:22822, OMIM:605335, RefSeq DNA:NT_029419, RefSeq Protein:NP_031376, RefSeq RNA:NM_007350, UCSC Genome Browser:NM_007350, UniProtKB:Q8WV24 No chr12 76419227 76425556 76025447 76031776 +PA37053 7262 HGNC:12385 ENSG00000181649 pleckstrin homology like domain family A member 2 PHLDA2 pleckstrin homology-like domain, family A, member 2 BWR1C, HLDA2, IPL, TSSC3 Yes No Comparative Toxicogenomics Database:7262, Ensembl:ENSG00000181649, GenAtlas:PHLDA2, GeneCard:PHLDA2, HGNC:HGNC:12385, HumanCyc Gene:HS11641, ModBase:Q53GA4, NCBI Gene:7262, OMIM:602131, RefSeq DNA:NG_009266, RefSeq DNA:NT_009237, RefSeq Protein:NP_003302, RefSeq RNA:NM_003311, UCSC Genome Browser:NM_003311, UniProtKB:Q53GA4 No chr11 2949503 2950650 2928273 2929420 +PA33275 23612 HGNC:8934 ENSG00000174307 pleckstrin homology like domain family A member 3 PHLDA3 """pleckstrin homology-like domain, family A, member 2"", ""pleckstrin homology-like domain, family A, member 3""" TIH1 Yes No Comparative Toxicogenomics Database:23612, Ensembl:ENSG00000174307, GenAtlas:PHLDA3, GeneCard:PHLDA3, HGNC:HGNC:8934, HumanCyc Gene:HS10786, ModBase:Q9Y5J5, NCBI Gene:23612, OMIM:607054, RefSeq DNA:NT_004487, RefSeq Protein:NP_036528, RefSeq RNA:NM_012396, UCSC Genome Browser:NM_012396, UniProtKB:Q9Y5J5 No chr1 201434607 201438299 201464284 201469171 +PA134917952 23187 HGNC:23697 ENSG00000019144 pleckstrin homology like domain family B member 1 PHLDB1 pleckstrin homology-like domain, family B, member 1 FLJ00141, KIAA0638, LL5a Yes No Comparative Toxicogenomics Database:23187, Ensembl:ENSG00000019144, GeneCard:PHLDB1, HGNC:HGNC:23697, ModBase:Q86UU1, NCBI Gene:23187, OMIM:612834, RefSeq DNA:NT_033899, RefSeq Protein:NP_001138230, RefSeq Protein:NP_001138231, RefSeq Protein:NP_055972, RefSeq RNA:NM_001144758, RefSeq RNA:NM_001144759, RefSeq RNA:NM_015157, UniProtKB:Q6ZUD6, UniProtKB:Q86UU1 No chr11 118477213 118528748 118606296 118658038 +PA134884060 90102 HGNC:29573 ENSG00000144824 pleckstrin homology like domain family B member 2 PHLDB2 pleckstrin homology-like domain, family B, member 2 FLJ21791, LL5b, LL5beta Yes No Comparative Toxicogenomics Database:90102, Ensembl:ENSG00000144824, GeneCard:PHLDB2, HGNC:HGNC:29573, HumanCyc Gene:HS14056, ModBase:Q86SQ0, NCBI Gene:90102, OMIM:610298, RefSeq DNA:NT_005612, RefSeq Protein:NP_001127909, RefSeq Protein:NP_001127910, RefSeq Protein:NP_001127911, RefSeq Protein:NP_665696, RefSeq RNA:NM_001134437, RefSeq RNA:NM_001134438, RefSeq RNA:NM_001134439, RefSeq RNA:NM_145753, UniProtKB:Q86SQ0 No chr3 111451327 111695364 111732480 111976517 +PA134934874 653583 HGNC:30499 ENSG00000176531 pleckstrin homology like domain family B member 3 PHLDB3 pleckstrin homology-like domain, family B, member 3 FLJ40193 Yes No Ensembl:ENSG00000176531, GeneCard:PHLDB3, HGNC:HGNC:30499, NCBI Gene:653583, RefSeq DNA:NT_011109, RefSeq Protein:NP_942147, RefSeq RNA:NM_198850, UniProtKB:Q96HZ0 No chr19 43979255 44009073 43474341 43504916 +PA165429055 23239 HGNC:20610 ENSG00000081913 PH domain and leucine rich repeat protein phosphatase 1 PHLPP1 protein phosphatase, Mg2+/Mn2+ dependent 3A KIAA0606, PHLPP, PLEKHE1, PPM3A, SCOP Yes No Comparative Toxicogenomics Database:23239, Ensembl:ENSG00000081913, GeneCard:PHLPP1, HGNC:HGNC:20610, ModBase:O60346, NCBI Gene:23239, OMIM:609396, RefSeq DNA:NT_025028, RefSeq Protein:NP_919431, RefSeq RNA:NM_194449, UniProtKB:O60346 No chr18 60382672 60647676 62715439 62980443 +PA165450496 23035 HGNC:29149 ENSG00000040199 PH domain and leucine rich repeat protein phosphatase 2 PHLPP2 protein phosphatase, Mg2+/Mn2+ dependent 3B KIAA0931, PHLPPL, PPM3B Yes No Comparative Toxicogenomics Database:23035, Ensembl:ENSG00000040199, GeneCard:PHLPP2, HGNC:HGNC:29149, ModBase:Q6ZVD8, NCBI Gene:23035, OMIM:611066, RefSeq DNA:NT_010498, RefSeq Protein:NP_055835, RefSeq RNA:NM_015020, UniProtKB:Q3ZCW4, UniProtKB:Q6ZVD8 No chr16 71678827 71757798 71644924 71724701 +PA33276 162466 HGNC:16815 ENSG00000173868 phosphoethanolamine/phosphocholine phosphatase 1 PHOSPHO1 """phosphatase, orphan 1"", ""phosphoethanolamine/phosphocholine phosphatase""" Yes No Comparative Toxicogenomics Database:162466, Ensembl:ENSG00000173868, GenAtlas:PHOSPHO1, GeneCard:PHOSPHO1, HGNC:HGNC:16815, ModBase:Q8TCT1, NCBI Gene:162466, RefSeq DNA:NT_010783, RefSeq Protein:NP_001137276, RefSeq Protein:NP_848595, RefSeq RNA:NM_001143804, RefSeq RNA:NM_178500, UCSC Genome Browser:NM_178500, UniProtKB:Q8TCT1 No chr17 47300728 47309009 49223369 49230766 +PA134947617 493911 HGNC:28316 ENSG00000144362 phosphatase, orphan 2 PHOSPHO2 MGC22679 Yes No Comparative Toxicogenomics Database:493911, Ensembl:ENSG00000144362, GeneCard:PHOSPHO2, HGNC:HGNC:28316, ModBase:Q8TCD6, NCBI Gene:493911, RefSeq DNA:NT_005403, RefSeq Protein:NP_001008489, RefSeq Protein:NP_001186214, RefSeq Protein:NP_001186215, RefSeq Protein:NP_001186216, RefSeq Protein:NP_001186217, RefSeq RNA:NM_001008489, RefSeq RNA:NM_001199285, RefSeq RNA:NM_001199286, RefSeq RNA:NM_001199287, RefSeq RNA:NM_001199288, UniProtKB:Q8TCD6 No chr2 170550946 170558218 169694454 169701708 +PA28093 401 HGNC:691 ENSG00000165462 paired like homeobox 2A PHOX2A paired-like homeobox 2a ARIX, CFEOM2, FEOM2, PMX2A Yes No Comparative Toxicogenomics Database:401, Ensembl:ENSG00000165462, GeneCard:PHOX2A, HGNC:HGNC:691, HumanCyc Gene:HS09234, ModBase:O14813, NCBI Gene:401, OMIM:602078, OMIM:602753, RefSeq DNA:NG_008169, RefSeq DNA:NT_167190, RefSeq Protein:NP_005160, RefSeq RNA:NM_005169, UCSC Genome Browser:NM_005169, UniProtKB:O14813 No chr11 71950121 71955220 72239077 72244176 +PA33467 8929 HGNC:9143 ENSG00000109132 paired like homeobox 2B PHOX2B paired-like homeobox 2b NBPhox, PMX2B, Phox2b Yes No Comparative Toxicogenomics Database:8929, Ensembl:ENSG00000109132, GeneCard:PHOX2B, HGNC:HGNC:9143, HumanCyc Gene:HS03204, ModBase:Q99453, NCBI Gene:8929, OMIM:142623, OMIM:209880, OMIM:256700, OMIM:603851, OMIM:613013, RefSeq DNA:NG_008243, RefSeq DNA:NT_006238, RefSeq Protein:NP_003915, RefSeq RNA:NM_003924, UCSC Genome Browser:NM_003924, UniProtKB:Q99453 No chr4 41746099 41750987 41744082 41748970 +PA134948141 29085 HGNC:30033 ENSG00000054148 phosphohistidine phosphatase 1 PHPT1 phosphohistidine phosphatase 14kDa, sex-regulated protein janus-a CGI-202, DKFZp564M173, HSPC141, PHP14, bA216L13.10 Yes No Comparative Toxicogenomics Database:29085, Ensembl:ENSG00000054148, GeneCard:PHPT1, HGNC:HGNC:30033, NCBI Gene:29085, OMIM:610167, RefSeq DNA:NT_024000, RefSeq Protein:NP_001129333, RefSeq Protein:NP_054891, RefSeq RNA:NM_001135861, RefSeq RNA:NM_014172, UniProtKB:B1AMX0, UniProtKB:Q9NRX4, UniProtKB:Q9P019 No chr9 139743256 139745490 136848816 136851043 +PA164724459 57661 HGNC:24351 ENSG00000070047 PHD and ring finger domains 1 PHRF1 """CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125""" KIAA1542, PPP1R125, RNF221 Yes No Ensembl:ENSG00000070047, GeneCard:PHRF1, HGNC:HGNC:24351, ModBase:Q9P1Y6, NCBI Gene:57661, OMIM:611780, RefSeq DNA:NT_009237, RefSeq Protein:NP_065952, RefSeq RNA:NM_020901, UniProtKB:Q9P1Y6 No chr11 576226 612222 576446 612225 +PA33278 10745 HGNC:8939 ENSG00000116793 putative homeodomain transcription factor 1 PHTF1 PHTF Yes Yes Comparative Toxicogenomics Database:10745, Ensembl:ENSG00000116793, GenAtlas:PHTF1, GeneCard:PHTF1, HGNC:HGNC:8939, HumanCyc Gene:HS04056, NCBI Gene:10745, OMIM:604950, RefSeq DNA:NT_032977, RefSeq Protein:NP_006599, RefSeq RNA:NM_006608, UCSC Genome Browser:NM_006608, UniProtKB:Q9UMS5 No chr1 114239824 114302165 113697202 113759888 +PA33279 57157 HGNC:13411 ENSG00000006576 putative homeodomain transcription factor 2 PHTF2 DKFZp434D166 Yes No Comparative Toxicogenomics Database:57157, Ensembl:ENSG00000006576, GenAtlas:PHTF2, GeneCard:PHTF2, HGNC:HGNC:13411, HumanCyc Gene:HS00183, NCBI Gene:57157, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001120829, RefSeq Protein:NP_001120830, RefSeq Protein:NP_001120831, RefSeq Protein:NP_001120832, RefSeq Protein:NP_065165, RefSeq RNA:NM_001127357, RefSeq RNA:NM_001127358, RefSeq RNA:NM_001127359, RefSeq RNA:NM_001127360, RefSeq RNA:NM_020432, UCSC Genome Browser:NM_020432, UniProtKB:Q6NW35, UniProtKB:Q8N3S3, UniProtKB:Q8TBW4 No chr7 77428109 77586821 77798792 77957504 +PA33280 5264 HGNC:8940 ENSG00000107537 phytanoyl-CoA 2-hydroxylase PHYH Refsum disease, phytanoyl-CoA dioxygenase PAHX, PHYH1, RD Yes No Comparative Toxicogenomics Database:5264, Ensembl:ENSG00000107537, GenAtlas:PHYH, GeneCard:PHYH, HGNC:HGNC:8940, HumanCyc Gene:HS03003, ModBase:O14832, NCBI Gene:5264, OMIM:266500, OMIM:602026, RefSeq DNA:NG_012862, RefSeq DNA:NT_008705, RefSeq Protein:NP_001032626, RefSeq Protein:NP_006205, RefSeq RNA:NM_001037537, RefSeq RNA:NM_006214, UCSC Genome Browser:NM_006214, UniProtKB:A8MTS8, UniProtKB:O14832 No chr10 13319796 13342133 13277796 13300130 +PA134959674 254295 HGNC:23396 ENSG00000175287 phytanoyl-CoA dioxygenase domain containing 1 PHYHD1 MGC16638 Yes No Comparative Toxicogenomics Database:254295, Ensembl:ENSG00000175287, GeneCard:PHYHD1, HGNC:HGNC:23396, ModBase:Q7Z7P9, NCBI Gene:254295, RefSeq DNA:NT_008470, RefSeq Protein:NP_001094346, RefSeq Protein:NP_001094347, RefSeq Protein:NP_777593, RefSeq RNA:NM_001100876, RefSeq RNA:NM_001100877, RefSeq RNA:NM_174933, UniProtKB:Q5SRE7 No chr9 131683174 131704322 128920895 128942041 +PA33281 9796 HGNC:16865 ENSG00000168490 phytanoyl-CoA 2-hydroxylase interacting protein PHYHIP DYRK1AP3, KIAA0273, PAHX-AP Yes No Ensembl:ENSG00000168490, GenAtlas:PHYHIP, GeneCard:PHYHIP, HGNC:HGNC:16865, HumanCyc Gene:HS15675, ModBase:Q92561, NCBI Gene:9796, OMIM:608511, RefSeq DNA:NT_167187, RefSeq Protein:NP_001092805, RefSeq Protein:NP_055574, RefSeq RNA:NM_001099335, RefSeq RNA:NM_014759, UCSC Genome Browser:NM_014759, UniProtKB:Q92561 No chr8 22077216 22089851 22219703 22232338 +PA134906827 84457 HGNC:29378 ENSG00000165443 phytanoyl-CoA 2-hydroxylase interacting protein like PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein-like Em:AC025038.1, KIAA1796 Yes No Ensembl:ENSG00000165443, GeneCard:PHYHIPL, HGNC:HGNC:29378, ModBase:Q96FC7, NCBI Gene:84457, RefSeq DNA:NT_030059, RefSeq Protein:NP_001137246, RefSeq Protein:NP_115815, RefSeq RNA:NM_001143774, RefSeq RNA:NM_032439, UniProtKB:B7WP61, UniProtKB:Q96FC7 No chr10 60936348 61007815 59174811 59247774 +PA162376015 85007 HGNC:28249 ENSG00000175309 5-phosphohydroxy-L-lysine phospho-lyase PHYKPL 5-phosphonooxy-L-lysine phospho-lyase, alanine-glyoxylate aminotransferase 2-like 2 AGXT2L2, MGC15875 Yes No Ensembl:ENSG00000175309, GeneCard:AGXT2L2, HGNC:HGNC:28249, HumanCyc Gene:HS10908, ModBase:Q8IUZ5, NCBI Gene:85007, RefSeq DNA:NT_023133, RefSeq Protein:NP_699204, RefSeq RNA:NM_153373, UniProtKB:A8K7P6, UniProtKB:Q8IUZ5 No chr5 177635475 177659823 178208474 178232822 +PA33282 51050 HGNC:8946 ENSG00000137558 peptidase inhibitor 15 PI15 P25TI Yes No Ensembl:ENSG00000137558, GenAtlas:PI15, GeneCard:PI15, HGNC:HGNC:8946, HumanCyc Gene:HS06359, ModBase:O43692, NCBI Gene:51050, OMIM:607076, RefSeq DNA:NT_008183, RefSeq Protein:NP_056970, RefSeq RNA:NM_015886, UCSC Genome Browser:NM_015886, UniProtKB:O43692 No chr8 75736772 75767264 74824537 74855044 +PA134867616 221476 HGNC:21245 ENSG00000164530 peptidase inhibitor 16 PI16 microseminoprotein, beta-binding protein CD364, MGC45378, MSMBBP, dJ90K10.5 Yes No Comparative Toxicogenomics Database:221476, Ensembl:ENSG00000164530, GeneCard:PI16, HGNC:HGNC:21245, HumanCyc Gene:HS09091, ModBase:Q6UXB8, NCBI Gene:221476, RefSeq DNA:NT_007592, RefSeq Protein:NP_001186088, RefSeq Protein:NP_699201, RefSeq RNA:NM_001199159, RefSeq RNA:NM_153370, UniProtKB:Q6UXB8 No chr6 36916039 36932613 36948263 36964837 +PA33283 5266 HGNC:8947 ENSG00000124102 peptidase inhibitor 3 PI3 """peptidase inhibitor 3, skin-derived"", ""skin-derived antileukoproteinase"", ""trappin-2""" ELAFIN, ESI, SKALP, WAP3, WFDC14, cementoin Yes No Ensembl:ENSG00000124102, GenAtlas:PI3, GeneCard:PI3, HGNC:HGNC:8947, HumanCyc Gene:HS04712, ModBase:P19957, NCBI Gene:5266, OMIM:182257, RefSeq DNA:NT_011362, RefSeq Protein:NP_002629, RefSeq RNA:NM_002638, UCSC Genome Browser:NM_002638, UniProtKB:P19957 No chr20 43803540 43805185 45174899 45176544 +PA162399304 55361 HGNC:30031 ENSG00000155252 phosphatidylinositol 4-kinase type 2 alpha PI4K2A DKFZP761G1923, PI4KII, PIK42A Yes No Ensembl:ENSG00000155252, GeneCard:PI4K2A, HGNC:HGNC:30031, HumanCyc Gene:HS00573, NCBI Gene:55361, OMIM:609763, RefSeq DNA:NT_030059, RefSeq Protein:NP_060895, RefSeq RNA:NM_018425, UniProtKB:Q9BTU6 No chr10 99400443 99436187 97640686 97676434 +PA142671173 55300 HGNC:18215 ENSG00000038210 phosphatidylinositol 4-kinase type 2 beta PI4K2B FLJ11105, PI4KIIB, PIK42B Yes No Comparative Toxicogenomics Database:55300, Ensembl:ENSG00000038210, GeneCard:PI4K2B, HGNC:HGNC:18215, HumanCyc Gene:HS00529, NCBI Gene:55300, OMIM:612101, RefSeq DNA:NT_006316, RefSeq Protein:NP_060793, RefSeq RNA:NM_018323, UniProtKB:Q8TCG2 No chr4 25235653 25280831 25234031 25279209 +PA162399305 5297 HGNC:8983 ENSG00000241973 phosphatidylinositol 4-kinase alpha PI4KA """phosphatidylinositol 4-kinase III alpha"", ""phosphatidylinositol 4-kinase IIIa"", ""phosphatidylinositol 4-kinase IIIα"", ""phosphatidylinositol 4-kinase IIIα"", ""phosphatidylinositol 4-kinase, catalytic, alpha""" PI4K-ALPHA, PIK4CA, pi4K230 Yes Yes Ensembl:ENSG00000241973, GeneCard:PI4KA, HGNC:HGNC:8983, HumanCyc Gene:HS00041, ModBase:P42356, NCBI Gene:5297, OMIM:600286, RefSeq DNA:NT_011520, RefSeq Protein:NP_002641, RefSeq Protein:NP_477352, RefSeq RNA:NM_002650, RefSeq RNA:NM_058004, UniProtKB:P42356, UniProtKB:Q4LE69 No chr22 21061979 21213100 20707691 20858812 +PA162399420 5298 HGNC:8984 ENSG00000143393 phosphatidylinositol 4-kinase beta PI4KB phosphatidylinositol 4-kinase, catalytic, beta PI4K-BETA, PIK4CB, pi4K92 Yes No Ensembl:ENSG00000143393, GeneCard:PI4KB, HGNC:HGNC:8984, HumanCyc Gene:HS07046, ModBase:Q9UBF8, NCBI Gene:5298, OMIM:602758, RefSeq DNA:NT_004487, RefSeq Protein:NP_001185702, RefSeq Protein:NP_001185703, RefSeq Protein:NP_001185704, RefSeq Protein:NP_002642, RefSeq RNA:NM_001198773, RefSeq RNA:NM_001198774, RefSeq RNA:NM_001198775, RefSeq RNA:NM_002651, UniProtKB:Q9UBF8 No chr1 151264273 151300191 151291797 151327715 +PA143485382 196500 HGNC:25338 ENSG00000139200 PILR alpha associated neural protein PIANP PILR-associating neural protein C12orf53, DKFZp547D2210, PANP Yes No Ensembl:ENSG00000139200, GeneCard:C12orf53, HGNC:HGNC:25338, HumanCyc Gene:HS13765, ModBase:Q8IYJ0, NCBI Gene:196500, RefSeq DNA:NT_009759, RefSeq Protein:NP_710152, RefSeq RNA:NM_153685, UniProtKB:A8K0T3, UniProtKB:Q8IYJ0 No chr12 6802957 6810009 6689726 6700843 +PA33285 8554 HGNC:2752 ENSG00000033800 protein inhibitor of activated STAT 1 PIAS1 """protein inhibitor of activated STAT, 1"", ""zinc finger, MIZ-type containing 3""" DDXBP1, GBP, GU/RH-II, ZMIZ3 Yes No Comparative Toxicogenomics Database:8554, Ensembl:ENSG00000033800, GenAtlas:PIAS1, GeneCard:PIAS1, HGNC:HGNC:2752, HumanCyc Gene:HS00494, ModBase:O75925, NCBI Gene:8554, OMIM:603566, RefSeq DNA:NT_010194, RefSeq Protein:NP_057250, RefSeq RNA:NM_016166, UCSC Genome Browser:NM_016166, UniProtKB:O75925 No chr15 68346572 68483797 68054179 68191464 +PA134933292 9063 HGNC:17311 ENSG00000078043 protein inhibitor of activated STAT 2 PIAS2 """protein inhibitor of activated STAT, 2"", ""zinc finger, MIZ-type containing 4""" ARIP3, PIASX-ALPHA, PIASX-BETA, ZMIZ4, miz Yes No Ensembl:ENSG00000078043, GeneCard:PIAS2, HGNC:HGNC:17311, HumanCyc Gene:HS01266, NCBI Gene:9063, OMIM:603567, RefSeq DNA:NT_010966, RefSeq Protein:NP_004662, RefSeq Protein:NP_775298, RefSeq RNA:NM_004671, RefSeq RNA:NM_173206, UniProtKB:O75928 No chr18 44388900 44500130 46803224 46920167 +PA134989011 10401 HGNC:16861 ENSG00000131788 protein inhibitor of activated STAT 3 PIAS3 """protein inhibitor of activated STAT, 3"", ""zinc finger, MIZ-type containing 5""" FLJ14651, ZMIZ5 Yes No Comparative Toxicogenomics Database:10401, Ensembl:ENSG00000131788, GeneCard:PIAS3, HGNC:HGNC:16861, HumanCyc Gene:HS05569, ModBase:Q9Y6X2, NCBI Gene:10401, OMIM:605987, RefSeq DNA:NT_167185, RefSeq Protein:NP_006090, RefSeq RNA:NM_006099, UniProtKB:B3KNI3, UniProtKB:Q9Y6X2 No chr1 145575257 145586546 145848522 145859081 +PA134945903 51588 HGNC:17002 ENSG00000105229 protein inhibitor of activated STAT 4 PIAS4 """protein inhibitor of activated STAT, 4"", ""zinc finger, MIZ-type containing 6""" FLJ12419, PIASY, Piasg, ZMIZ6 Yes No Ensembl:ENSG00000105229, GeneCard:PIAS4, HGNC:HGNC:17002, HumanCyc Gene:HS02697, ModBase:Q8N2W9, NCBI Gene:51588, OMIM:605989, RefSeq DNA:NT_011255, RefSeq Protein:NP_056981, RefSeq RNA:NM_015897, UniProtKB:Q8N2W9 No chr19 4007749 4038067 4007598 4039386 +PA162399421 10464 HGNC:23352 ENSG00000083535 progesterone immunomodulatory binding factor 1 PIBF1 progesterone-induced blocking factor 1 C13orf24, CEP90, PIBF Yes No Ensembl:ENSG00000083535, GeneCard:PIBF1, HGNC:HGNC:23352, HumanCyc Gene:HS12278, ModBase:Q8WXW3, NCBI Gene:10464, OMIM:607532, RefSeq DNA:NT_024524, RefSeq Protein:NP_006337, RefSeq RNA:NM_006346, UniProtKB:Q8WXW3 No chr13 73356202 73590592 72782059 73016454 +PA33287 8301 HGNC:15514 ENSG00000073921 phosphatidylinositol binding clathrin assembly protein PICALM CALM, CLTH Yes Yes Comparative Toxicogenomics Database:8301, Ensembl:ENSG00000073921, GenAtlas:PICALM, GeneCard:PICALM, HGNC:HGNC:15514, HumanCyc Gene:HS01123, ModBase:Q13492, NCBI Gene:8301, OMIM:601626, OMIM:603025, RefSeq DNA:NT_167190, RefSeq Protein:NP_001008660, RefSeq Protein:NP_001193875, RefSeq Protein:NP_001193876, RefSeq Protein:NP_009097, RefSeq RNA:NM_001008660, RefSeq RNA:NM_001206946, RefSeq RNA:NM_001206947, RefSeq RNA:NM_007166, UCSC Genome Browser:NM_007166, UniProtKB:Q13492 No chr11 85668214 85780923 85957171 86069881 +PA33760 9463 HGNC:9394 ENSG00000100151 protein interacting with PRKCA 1 PICK1 MGC15204, PRKCABP, dJ1039K5 Yes Yes Comparative Toxicogenomics Database:9463, Ensembl:ENSG00000100151, GenAtlas:PICK1, GeneCard:PICK1, HGNC:HGNC:9394, HumanCyc Gene:HS01989, ModBase:Q9NRD5, NCBI Gene:9463, OMIM:605926, RefSeq DNA:NT_011520, RefSeq Protein:NP_001034672, RefSeq Protein:NP_001034673, RefSeq Protein:NP_036539, RefSeq RNA:NM_001039583, RefSeq RNA:NM_001039584, RefSeq RNA:NM_012407, UCSC Genome Browser:NM_012407, UniProtKB:Q9NRD5 No chr22 38453262 38471708 38056311 38075704 +PA162399462 55022 HGNC:26084 ENSG00000153823 phosphotyrosine interaction domain containing 1 PID1 FLJ20701, NYGGF4 Yes No Ensembl:ENSG00000153823, GeneCard:PID1, HGNC:HGNC:26084, HumanCyc Gene:HS14489, ModBase:Q7Z2X4, NCBI Gene:55022, OMIM:612930, RefSeq DNA:NT_005403, RefSeq Protein:NP_001094288, RefSeq Protein:NP_060403, RefSeq RNA:NM_001100818, RefSeq RNA:NM_017933, UniProtKB:Q7Z2X4 No chr2 229888689 230136057 229023973 229271341 +PA30445 55367 HGNC:16491 ENSG00000177595 p53-induced death domain protein 1 PIDD1 p53-induced death domain protein DKFZp434D229, LRDD, MGC16925, PIDD Yes No Comparative Toxicogenomics Database:55367, Ensembl:ENSG00000177595, GenAtlas:LRDD, GeneCard:LRDD, HGNC:HGNC:16491, HumanCyc Gene:HS11188, ModBase:Q9NRE6, NCBI Gene:55367, OMIM:605247, RefSeq DNA:NT_009237, RefSeq Protein:NP_060964, RefSeq Protein:NP_665893, RefSeq Protein:NP_665894, RefSeq RNA:NM_018494, RefSeq RNA:NM_145886, RefSeq RNA:NM_145887, UCSC Genome Browser:NM_018494, UniProtKB:Q9HB75 No chr11 799179 809872 799179 809504 +PA166352048 138162 HGNC:28435 piercer of microtubule wall 1 PIERCE1 p53-induced expression 1 in Rb−/− cells, p53-induced expression 1 in Rb−/− cells C9orf116, MGC29761, RbEST47 Yes No HGNC:HGNC:28435, NCBI Gene:138162 No 0 0 0 0 +PA166352049 145788 HGNC:44654 piercer of microtubule wall 2 PIERCE2 C15orf65, FLJ27352 Yes No HGNC:HGNC:44654, NCBI Gene:145788 No 0 0 0 0 +PA128394558 9780 HGNC:28993 ENSG00000103335 piezo type mechanosensitive ion channel component 1 (Er blood group) PIEZO1 piezo type mechanosensitive ion channel component 1, piezo-type mechanosensitive ion channel component 1 FAM38A, KIAA0233 Yes No Ensembl:ENSG00000103335, GeneCard:FAM38A, HGNC:HGNC:28993, HumanCyc Gene:HS12521, NCBI Gene:9780, OMIM:611184, RefSeq DNA:NT_010542, RefSeq Protein:NP_001136336, RefSeq RNA:NM_001142864, UCSC Genome Browser:NM_014745 No chr16 88781746 88851372 88715338 88785220 +PA25792 128615 HGNC:16214 ENSG00000233686 piezo-type mechanosensitive ion channel component 1 pseudogene 1 PIEZO1P1 bA164D18.1 Yes No Ensembl:ENSG00000233686, GenAtlas:C20orf83, GeneCard:PIEZO1P1, HGNC:HGNC:16214, NCBI Gene:128615, RefSeq DNA:NG_011695 No chr20 58035674 58035892 59460619 59460837 +PA134930761 63895 HGNC:26270 ENSG00000154864 piezo type mechanosensitive ion channel component 2 PIEZO2 piezo-type mechanosensitive ion channel component 2 C18orf30, C18orf58, FAM38B, FAM38B2, FLJ23144, FLJ23403, FLJ34907, HsT748, HsT771 Yes No Ensembl:ENSG00000154864, GeneCard:FAM38B, HGNC:HGNC:26270, HumanCyc Gene:HS14541, ModBase:Q9H5I5, NCBI Gene:63895, RefSeq DNA:NT_010859, RefSeq Protein:NP_071351, RefSeq RNA:NM_022068, RefSeq RNA:XR_078663, RefSeq RNA:XR_079387, UniProtKB:Q8N787, UniProtKB:Q8NAR6, UniProtKB:Q9H5I5 No chr18 10670244 11148761 10670237 11149561 +PA162399475 80119 HGNC:26220 ENSG00000140451 PIF1 5'-to-3' DNA helicase PIF1 PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) C15orf20, FLJ22692 Yes No Ensembl:ENSG00000140451, GeneCard:PIF1, HGNC:HGNC:26220, ModBase:Q9H611, NCBI Gene:80119, OMIM:610953, RefSeq DNA:NT_010194, RefSeq Protein:NP_079325, RefSeq RNA:NM_025049, UniProtKB:B2RPL7, UniProtKB:Q9H611 No chr15 65107831 65117867 64815630 64827173 +PA33288 5277 HGNC:8957 ENSG00000165195 phosphatidylinositol glycan anchor biosynthesis class A PIGA """GPI3 (SPT14) homolog (S. cerevisiae)"", ""Phosphatidylinositol N-acetylglucosaminyltransferase subunit A"", ""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"", ""phosphatidylinositol glycan anchor biosynthesis, class A""" GPI3, PIG-A Yes No Comparative Toxicogenomics Database:5277, Ensembl:ENSG00000165195, GenAtlas:PIGA, GeneCard:PIGA, HGNC:HGNC:8957, HumanCyc Gene:HS09198, ModBase:P37287, NCBI Gene:5277, OMIM:300818, OMIM:311770, RefSeq DNA:NG_009786, RefSeq DNA:NT_167197, RefSeq Protein:NP_002632, RefSeq Protein:NP_065206, RefSeq RNA:NM_002641, RefSeq RNA:NM_020473, RefSeq RNA:NR_033835, RefSeq RNA:NR_033836, UCSC Genome Browser:NM_002641, UniProtKB:B3KUV7, UniProtKB:P37287 No chrX 15337573 15353676 15319451 15335554 +PA33289 5278 HGNC:8958 ENSG00000257803 phosphatidylinositol glycan anchor biosynthesis, class A, pseudogene 1 PIGAP1 Yes No Ensembl:ENSG00000257803, GenAtlas:PIGAP1, GeneCard:PIGAP1, HGNC:HGNC:8958, NCBI Gene:5278, RefSeq DNA:NG_001174, RefSeq DNA:NT_029419 No chr12 100972412 100976450 100578634 100582672 +PA33290 9488 HGNC:8959 ENSG00000069943 phosphatidylinositol glycan anchor biosynthesis class B PIGB """GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase III"", ""phosphatidylinositol glycan anchor biosynthesis, class B""" GPI-MT-III, PIG-B Yes Yes Ensembl:ENSG00000069943, GenAtlas:PIGB, GeneCard:PIGB, HGNC:HGNC:8959, HumanCyc Gene:HS00974, ModBase:Q92521, NCBI Gene:9488, OMIM:604122, RefSeq DNA:NT_010194, RefSeq Protein:NP_004846, RefSeq RNA:NM_004855, UCSC Genome Browser:NM_004855, UniProtKB:Q92521 No chr15 55611133 55647906 55318935 55355648 +PA166181594 101928527 HGNC:50696 ENSG00000225973 PIGB opposite strand 1 PIGBOS1 Yes No Ensembl:ENSG00000225973, HGNC:HGNC:50696, NCBI Gene:101928527 No 0 0 0 0 +PA33291 5279 HGNC:8960 ENSG00000135845 phosphatidylinositol glycan anchor biosynthesis class C PIGC """phosphatidylinositol N-acetylglucosaminyltransferase"", ""phosphatidylinositol N-acetylglucosaminyltransferase subunit C"", ""phosphatidylinositol glycan anchor biosynthesis, class C""" GPI2, PIG-C Yes No Comparative Toxicogenomics Database:5279, Ensembl:ENSG00000135845, GenAtlas:PIGC, GeneCard:PIGC, HGNC:HGNC:8960, HumanCyc Gene:HS06072, ModBase:Q92535, NCBI Gene:5279, OMIM:601730, RefSeq DNA:NT_004487, RefSeq Protein:NP_002633, RefSeq Protein:NP_714969, RefSeq RNA:NM_002642, RefSeq RNA:NM_153747, UCSC Genome Browser:NM_002642, UCSC Genome Browser:NM_153747, UniProtKB:Q92535 No chr1 172410597 172413230 172441457 172444090 +PA33292 5280 HGNC:8961 ENSG00000213713 phosphatidylinositol glycan anchor biosynthesis, class C, pseudogene 1 PIGCP1 Yes No Ensembl:ENSG00000213713, GenAtlas:PIGCP1, GeneCard:PIGCP1, HGNC:HGNC:8961, NCBI Gene:5280, RefSeq DNA:NG_001175, RefSeq DNA:NT_009237 No chr11 33096632 33098264 33075086 33076718 +PA33293 5281 HGNC:8962 ENSG00000151665 phosphatidylinositol glycan anchor biosynthesis class F PIGF phosphatidylinositol glycan anchor biosynthesis, class F PIG-F Yes No Comparative Toxicogenomics Database:5281, Ensembl:ENSG00000151665, GenAtlas:PIGF, GeneCard:PIGF, HGNC:HGNC:8962, HumanCyc Gene:HS07760, ModBase:Q07326, NCBI Gene:5281, OMIM:600153, RefSeq DNA:NT_022184, RefSeq Protein:NP_002634, RefSeq Protein:NP_775097, RefSeq RNA:NM_002643, RefSeq RNA:NM_173074, UCSC Genome Browser:NM_002643, UniProtKB:Q07326, UniProtKB:Q6IB04 No chr2 46808413 46844251 46581274 46617112 +PA33294 5282 HGNC:8963 ENSG00000253869 phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 1 PIGFP1 Yes No Ensembl:ENSG00000253869, GenAtlas:PIGFP1, GeneCard:PIGFP1, HGNC:HGNC:8963, NCBI Gene:5282, RefSeq DNA:NG_001176, RefSeq DNA:NT_023133 No chr5 178349021 178349915 178922020 178922914 +PA143485575 54872 HGNC:25985 ENSG00000174227 phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) PIGG """GPI ethanolamine phosphate transferase 2"", ""LAS21 (GPI7) homolog (S. cerevisiae)"", ""phosphatidylinositol glycan anchor biosynthesis class G"", ""phosphatidylinositol glycan anchor biosynthesis, class G""" FLJ20265, GPI7, LAS21 Yes No Ensembl:ENSG00000174227, GeneCard:PIGG, HGNC:HGNC:25985, HumanCyc Gene:HS16314, ModBase:Q9NXG5, NCBI Gene:54872, RefSeq DNA:NT_037622, RefSeq Protein:NP_001120650, RefSeq Protein:NP_060203, RefSeq RNA:NM_001127178, RefSeq RNA:NM_017733, UniProtKB:Q5H8A4, UniProtKB:Q8NCI4 No chr4 492989 533320 499200 539921 +PA33295 5283 HGNC:8964 ENSG00000100564 phosphatidylinositol glycan anchor biosynthesis class H PIGH """phosphatidylinositol N-acetylglucosaminyltransferase subunit"", ""phosphatidylinositol N-acetylglucosaminyltransferase subunit H"", ""phosphatidylinositol glycan anchor biosynthesis, class H""" GPI-H Yes No Ensembl:ENSG00000100564, GenAtlas:PIGH, GeneCard:PIGH, HGNC:HGNC:8964, HumanCyc Gene:HS02109, NCBI Gene:5283, OMIM:600154, RefSeq DNA:NT_026437, RefSeq Protein:NP_004560, RefSeq RNA:NM_004569, UCSC Genome Browser:NM_004569, UniProtKB:Q14442 No chr14 68048225 68067017 67589306 67600302 +PA33296 10026 HGNC:8965 ENSG00000142892 phosphatidylinositol glycan anchor biosynthesis class K PIGK """GPI transamidase subunit"", ""GPI-anchor transamidase"", ""GPI8 homolog (S. cerevisiae)"", ""phosphatidylinositol glycan anchor biosynthesis, class K""" GPI8, PIG-K, hGPI8 Yes No Comparative Toxicogenomics Database:10026, Ensembl:ENSG00000142892, GenAtlas:PIGK, GeneCard:PIGK, HGNC:HGNC:8965, HumanCyc Gene:HS06969, ModBase:Q92643, NCBI Gene:10026, OMIM:605087, RefSeq DNA:NT_032977, RefSeq Protein:NP_005473, RefSeq RNA:NM_005482, UCSC Genome Browser:NM_005482, UniProtKB:Q92643 No chr1 77554666 77685132 77088981 77219447 +PA33297 9487 HGNC:8966 ENSG00000108474 phosphatidylinositol glycan anchor biosynthesis class L PIGL """N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase"", ""N-acetylglucosaminylphosphatidylinositol deacetylase"", ""phosphatidylinositol glycan anchor biosynthesis, class L""" PIG-L Yes No Ensembl:ENSG00000108474, GenAtlas:PIGL, GeneCard:PIGL, HGNC:HGNC:8966, HumanCyc Gene:HS03111, ModBase:Q9Y2B2, NCBI Gene:9487, OMIM:605947, RefSeq DNA:NT_010718, RefSeq Protein:NP_004269, RefSeq RNA:NM_004278, UCSC Genome Browser:NM_004278, UniProtKB:Q9Y2B2 No chr17 16120509 16230098 16217195 16351800 +PA38718 93183 HGNC:18858 ENSG00000143315 phosphatidylinositol glycan anchor biosynthesis class M PIGM """DPM:GlcN-(acyl-)PI mannosyltransferase"", ""GPI mannosyltransferase 1"", ""dol-P-Man dependent GPI mannosyltransferase"", ""phosphatidylinositol glycan anchor biosynthesis, class M""" GPI-MT-I, PIG-M Yes Yes Comparative Toxicogenomics Database:93183, Ensembl:ENSG00000143315, GenAtlas:PIGM, GeneCard:PIGM, HGNC:HGNC:18858, HumanCyc Gene:HS07022, ModBase:Q9H3S5, NCBI Gene:93183, OMIM:610273, OMIM:610293, RefSeq DNA:NG_012238, RefSeq DNA:NT_004487, RefSeq Protein:NP_660150, RefSeq RNA:NM_145167, UCSC Genome Browser:NM_145167, UniProtKB:Q9H3S5 No chr1 159997462 160001783 160027672 160031993 +PA33298 23556 HGNC:8967 ENSG00000197563 phosphatidylinositol glycan anchor biosynthesis class N PIGN """GPI ethanolamine phosphate transferase 1"", ""phosphatidylinositol glycan anchor biosynthesis, class N""" MCD4, MDC4, PIG-N Yes No Ensembl:ENSG00000197563, GenAtlas:PIGN, GeneCard:PIGN, HGNC:HGNC:8967, ModBase:O95427, NCBI Gene:23556, OMIM:606097, RefSeq DNA:NT_025028, RefSeq Protein:NP_036459, RefSeq Protein:NP_789744, RefSeq RNA:NM_012327, RefSeq RNA:NM_176787, UCSC Genome Browser:NM_012327, UniProtKB:O95427 No chr18 59711457 59854289 62044224 62187118 +PA134993507 84720 HGNC:23215 ENSG00000165282 phosphatidylinositol glycan anchor biosynthesis class O PIGO phosphatidylinositol glycan anchor biosynthesis, class O DKFZp434M222, FLJ00135, PIG-O Yes No Comparative Toxicogenomics Database:84720, Ensembl:ENSG00000165282, GeneCard:PIGO, HGNC:HGNC:23215, HumanCyc Gene:HS09213, ModBase:Q8TEQ8, NCBI Gene:84720, RefSeq DNA:NT_008413, RefSeq Protein:NP_001188413, RefSeq Protein:NP_116023, RefSeq Protein:NP_690577, RefSeq RNA:NM_001201484, RefSeq RNA:NM_032634, RefSeq RNA:NM_152850, UniProtKB:Q8TEQ8 No chr9 35087028 35096598 35085493 35096601 +PA27498 51227 HGNC:3046 ENSG00000185808 phosphatidylinositol glycan anchor biosynthesis class P PIGP """phosphatidylinositol glycan anchor biosynthesis, class P"", ""phosphatidylinositol-n-acetylglucosaminyltranferase subunit"", ""phosphatidylinositol-n-acetylglucosaminyltranferase subunit P""" DCRC, DSCR5, DSRC Yes No Comparative Toxicogenomics Database:51227, Ensembl:ENSG00000185808, GenAtlas:PIGP, GeneCard:PIGP, HGNC:HGNC:3046, HumanCyc Gene:HS11965, NCBI Gene:51227, OMIM:605938, RefSeq DNA:NT_011512, RefSeq Protein:NP_710148, RefSeq Protein:NP_710149, RefSeq RNA:NM_153681, RefSeq RNA:NM_153682, RefSeq RNA:NR_028352, UCSC Genome Browser:NM_016430, UniProtKB:P57054 No chr21 38437664 38445458 37065364 37073158 +PA33299 9091 HGNC:14135 ENSG00000007541 phosphatidylinositol glycan anchor biosynthesis class Q PIGQ """Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q"", ""phosphatidylinositol glycan anchor biosynthesis, class Q""" GPI1, hGPI1 Yes No Ensembl:ENSG00000007541, GenAtlas:PIGQ, GeneCard:PIGQ, HGNC:HGNC:14135, HumanCyc Gene:HS00218, ModBase:Q9BRB3, NCBI Gene:9091, OMIM:605754, RefSeq DNA:NT_010393, RefSeq Protein:NP_004195, RefSeq Protein:NP_683721, RefSeq RNA:NM_004204, RefSeq RNA:NM_148920, UCSC Genome Browser:NM_004204, UniProtKB:Q9BRB3 No chr16 619968 634136 569968 584136 +PA33300 5284 HGNC:8968 ENSG00000162896 polymeric immunoglobulin receptor PIGR Yes No Comparative Toxicogenomics Database:5284, Ensembl:ENSG00000162896, GenAtlas:PIGR, GeneCard:PIGR, HGNC:HGNC:8968, HumanCyc Gene:HS08756, ModBase:P01833, NCBI Gene:5284, OMIM:161950, OMIM:173880, RefSeq DNA:NG_012927, RefSeq DNA:NT_167186, RefSeq Protein:NP_002635, RefSeq RNA:NM_002644, UCSC Genome Browser:NM_002644, UniProtKB:P01833 No chr1 207101867 207119814 206928522 206946466 +PA33301 94005 HGNC:14937 ENSG00000087111 phosphatidylinositol glycan anchor biosynthesis class S PIGS """GPI transamidase component PIG-S"", ""GPI transamidase subunit"", ""phosphatidylinositol glycan anchor biosynthesis, class S""" PIG-S Yes No Ensembl:ENSG00000087111, GenAtlas:PIGS, GeneCard:PIGS, HGNC:HGNC:14937, HumanCyc Gene:HS01557, ModBase:Q96S52, NCBI Gene:94005, OMIM:610271, RefSeq DNA:NT_010799, RefSeq Protein:NP_149975, RefSeq RNA:NM_033198, UCSC Genome Browser:NM_033198, UniProtKB:Q8NBL9, UniProtKB:Q96IR5, UniProtKB:Q96S52 No chr17 26880405 26898887 28553388 28571869 +PA33302 51604 HGNC:14938 ENSG00000124155 phosphatidylinositol glycan anchor biosynthesis class T PIGT """GPI transamidase component PIG-T"", ""GPI transamidase subunit"", ""phosphatidylinositol glycan anchor biosynthesis, class T""" PIG-T Yes No Ensembl:ENSG00000124155, GenAtlas:PIGT, GeneCard:PIGT, HGNC:HGNC:14938, HumanCyc Gene:HS13112, ModBase:Q969N2, NCBI Gene:51604, OMIM:610272, RefSeq DNA:NT_011362, RefSeq Protein:NP_001171657, RefSeq Protein:NP_001171658, RefSeq Protein:NP_001171659, RefSeq Protein:NP_057021, RefSeq RNA:NM_001184728, RefSeq RNA:NM_001184729, RefSeq RNA:NM_001184730, RefSeq RNA:NM_015937, UCSC Genome Browser:NM_015937, UniProtKB:Q969N2 No chr20 44044707 44054885 45416067 45426245 +PA162399506 128869 HGNC:15791 ENSG00000101464 phosphatidylinositol glycan anchor biosynthesis class U PIGU """GPI and Actin Bar homolog (S. cerevisiae)"", ""GPI transamidase subunit"", ""GPI transamidase subunit PIGU"", ""phosphatidylinositol glycan anchor biosynthesis, class U""" CDC91L1, GAB1, PIG-U, bA346K17.2 Yes No Ensembl:ENSG00000101464, GeneCard:PIGU, HGNC:HGNC:15791, HumanCyc Gene:HS02280, ModBase:Q9H490, NCBI Gene:128869, OMIM:608528, RefSeq DNA:NG_011497, RefSeq DNA:NT_011362, RefSeq Protein:NP_536724, RefSeq RNA:NM_080476, UniProtKB:Q9H490 No chr20 33148346 33265089 34560542 34677285 +PA134952230 55650 HGNC:26031 ENSG00000060642 phosphatidylinositol glycan anchor biosynthesis class V PIGV """GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase II"", ""phosphatidylinositol glycan anchor biosynthesis, class V""" FLJ20477, GPI-MT-II, PIG-V Yes No Ensembl:ENSG00000060642, GeneCard:PIGV, HGNC:HGNC:26031, HumanCyc Gene:HS12152, ModBase:Q9NUD9, NCBI Gene:55650, OMIM:610274, RefSeq DNA:NT_004610, RefSeq Protein:NP_001189483, RefSeq Protein:NP_060307, RefSeq RNA:NM_001202554, RefSeq RNA:NM_017837, UniProtKB:Q9NUD9 No chr1 27113739 27124894 26787963 26798403 +PA134894412 284098 HGNC:23213 ENSG00000277161 phosphatidylinositol glycan anchor biosynthesis class W PIGW """GPI-anchored wall protein transfer 1 homolog (S. cerevisiae)"", ""phosphatidylinositol glycan anchor biosynthesis, class W""" FLJ37433, Gwt1, PIG-W Yes No Ensembl:ENSG00000277161, GeneCard:PIGW, HGNC:HGNC:23213, ModBase:Q7Z7B1, NCBI Gene:284098, OMIM:610275, RefSeq DNA:NT_010783, RefSeq Protein:NP_848612, RefSeq RNA:NM_178517, UniProtKB:Q7Z7B1 No chr17 34890849 34895217 36534764 36539303 +PA134928970 54965 HGNC:26046 ENSG00000163964 phosphatidylinositol glycan anchor biosynthesis class X PIGX phosphatidylinositol glycan anchor biosynthesis, class X FLJ20522, PIG-X Yes No Ensembl:ENSG00000163964, GeneCard:PIGX, HGNC:HGNC:26046, HumanCyc Gene:HS15133, NCBI Gene:54965, OMIM:610276, RefSeq DNA:NT_029928, RefSeq Protein:NP_001159776, RefSeq Protein:NP_060331, RefSeq RNA:NM_001166304, RefSeq RNA:NM_017861, UniProtKB:Q8TBF5 No chr3 196439234 196462878 196712374 196736007 +PA143485576 84992 HGNC:28213 ENSG00000255072 phosphatidylinositol glycan anchor biosynthesis class Y PIGY """Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y"", ""phosphatidylinositol glycan anchor biosynthesis, class Y""" MGC14156, PIG-Y Yes No Comparative Toxicogenomics Database:84992, Ensembl:ENSG00000255072, GeneCard:PIGY, HGNC:HGNC:28213, HumanCyc Gene:HS14084, NCBI Gene:84992, OMIM:610662, RefSeq DNA:NT_016354, RefSeq Protein:NP_001036081, RefSeq Protein:NP_116295, RefSeq RNA:NM_001042616, RefSeq RNA:NM_032906, UniProtKB:Q3MUY2, UniProtKB:Q96I23 No chr4 89442129 89444952 88520978 88523801 +PA142671171 80235 HGNC:30596 ENSG00000119227 phosphatidylinositol glycan anchor biosynthesis class Z PIGZ """GPI mannosyltransferase 4"", ""SMP3 homolog (S. cerevisiae)"", ""dol-P-Man dependent GPI mannosyltransferase"", ""phosphatidylinositol glycan anchor biosynthesis, class Z""" FLJ12768, GPI-MT-IV, MGC52163, PIG-Z, SMP3, hSMP3 Yes No Comparative Toxicogenomics Database:80235, Ensembl:ENSG00000119227, GeneCard:PIGZ, HGNC:HGNC:30596, HumanCyc Gene:HS12929, NCBI Gene:80235, OMIM:611671, RefSeq DNA:NT_029928, RefSeq Protein:NP_079439, RefSeq RNA:NM_025163, UniProtKB:Q86VD9 No chr3 196673214 196695742 196946343 196969411 +PA162399535 55011 HGNC:26075 ENSG00000104872 PIH1 domain containing 1 PIH1D1 dynein axonemal assembly factor 14 DNAAF14, FLJ20643, MOT48, NOP17, Pih1 Yes No Ensembl:ENSG00000104872, GeneCard:PIH1D1, HGNC:HGNC:26075, HumanCyc Gene:HS02639, ModBase:Q9NWS0, NCBI Gene:55011, OMIM:611480, RefSeq DNA:NT_011109, RefSeq Protein:NP_060386, RefSeq RNA:NM_017916, UniProtKB:Q9NWS0 No chr19 49949550 49955266 49446293 49452332 +PA162399536 120379 HGNC:25210 ENSG00000150773 PIH1 domain containing 2 PIH1D2 dynein axonemal assembly factor 15 DNAAF15 Yes No Ensembl:ENSG00000150773, GeneCard:PIH1D2, HGNC:HGNC:25210, HumanCyc Gene:HS14339, ModBase:Q8WWB5, NCBI Gene:120379, RefSeq DNA:NT_033899, RefSeq Protein:NP_001076088, RefSeq Protein:NP_620144, RefSeq RNA:NM_001082619, RefSeq RNA:NM_138789, UniProtKB:Q8WWB5 No chr11 111934734 111944895 112052161 112074288 +PA134979629 118788 HGNC:30034 ENSG00000155629 phosphoinositide-3-kinase adaptor protein 1 PIK3AP1 BCAP, FLJ35564 Yes No Comparative Toxicogenomics Database:118788, Ensembl:ENSG00000155629, GeneCard:PIK3AP1, HGNC:HGNC:30034, HumanCyc Gene:HS08059, ModBase:Q6ZUJ8, NCBI Gene:118788, OMIM:607942, RefSeq DNA:NT_030059, RefSeq Protein:NP_689522, RefSeq RNA:NM_152309, UniProtKB:Q6ZUJ8, UniProtKB:Q86YV3 No chr10 98353069 98480279 96593312 96720522 +PA33304 5286 HGNC:8971 ENSG00000011405 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha PIK3C2A """Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha"", ""phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha""" PI3K-C2alpha Yes No Comparative Toxicogenomics Database:5286, Ensembl:ENSG00000011405, GenAtlas:PIK3C2A, GeneCard:PIK3C2A, HGNC:HGNC:8971, HumanCyc Gene:HS00315, ModBase:O00443, NCBI Gene:5286, OMIM:603601, RefSeq DNA:NT_009237, RefSeq Protein:NP_002636, RefSeq RNA:NM_002645, UCSC Genome Browser:NM_002645, UniProtKB:O00443 No chr11 17108108 17229543 17086572 17207996 +PA33305 5287 HGNC:8972 ENSG00000133056 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta C2-PI3K, PI3K-C2beta Yes No Comparative Toxicogenomics Database:5287, Ensembl:ENSG00000133056, GenAtlas:PIK3C2B, GeneCard:PIK3C2B, HGNC:HGNC:8972, HumanCyc Gene:HS05725, ModBase:O00750, NCBI Gene:5287, OMIM:602838, RefSeq DNA:NT_004487, RefSeq Protein:NP_002637, RefSeq RNA:NM_002646, UCSC Genome Browser:NM_002646, UniProtKB:A2RUF7, UniProtKB:O00750 No chr1 204391756 204463943 204422630 204494815 +PA33306 5288 HGNC:8973 ENSG00000139144 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma PIK3C2G phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma Yes No Comparative Toxicogenomics Database:5288, Ensembl:ENSG00000139144, GenAtlas:PIK3C2G, GeneCard:PIK3C2G, HGNC:HGNC:8973, HumanCyc Gene:HS06583, ModBase:O75747, NCBI Gene:5288, OMIM:609001, RefSeq DNA:NT_009714, RefSeq Protein:NP_004561, RefSeq RNA:NM_004570, UCSC Genome Browser:NM_004570, UniProtKB:O75747 No chr12 18395912 18801352 18242946 18716861 +PA33307 5289 HGNC:8974 ENSG00000078142 phosphatidylinositol 3-kinase catalytic subunit type 3 PIK3C3 """phosphatidylinositol 3-kinase, catalytic subunit type 3"", ""vacuolar protein sorting 34 homolog""" Vps34, hVps34 Yes No Comparative Toxicogenomics Database:5289, Ensembl:ENSG00000078142, GenAtlas:PIK3C3, GeneCard:PIK3C3, HGNC:HGNC:8974, HumanCyc Gene:HS01275, ModBase:Q8NEB9, NCBI Gene:5289, OMIM:602609, RefSeq DNA:NT_010966, RefSeq Protein:NP_002638, RefSeq RNA:NM_002647, UCSC Genome Browser:NM_002647, UniProtKB:Q8NEB9 No chr18 39535165 39662272 41955196 42084606 +PA33308 5290 HGNC:8975 ENSG00000121879 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha PI3K Yes Yes Comparative Toxicogenomics Database:5290, Ensembl:ENSG00000121879, GenAtlas:PIK3CA, GeneCard:PIK3CA, HGNC:HGNC:8975, HumanCyc Gene:HS04527, ModBase:P42336, NCBI Gene:5290, OMIM:114480, OMIM:114500, OMIM:114550, OMIM:137215, OMIM:162900, OMIM:171834, OMIM:182000, OMIM:211980, OMIM:604370, RefSeq DNA:NG_012113, RefSeq DNA:NT_005612, RefSeq Protein:NP_006209, RefSeq RNA:NM_006218, UCSC Genome Browser:NM_006218, UniProtKB:P42336 No chr3 178866311 178952500 179148114 179240093 +PA33309 5291 HGNC:8976 ENSG00000051382 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta PIK3C1 Yes No Comparative Toxicogenomics Database:5291, Ensembl:ENSG00000051382, GenAtlas:PIK3CB, GeneCard:PIK3CB, HGNC:HGNC:8976, HumanCyc Gene:HS00644, ModBase:P42338, NCBI Gene:5291, OMIM:602925, RefSeq DNA:NT_005612, RefSeq Protein:NP_006210, RefSeq RNA:NM_006219, UCSC Genome Browser:NM_006219, UniProtKB:P42338 No chr3 138371540 138553780 138652698 138834938 +PA33310 5293 HGNC:8977 ENSG00000171608 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta PIK3CD """phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta"", ""phosphoinositide-3-kinase C""" p110D Yes No Comparative Toxicogenomics Database:5293, Ensembl:ENSG00000171608, GenAtlas:PIK3CD, GeneCard:PIK3CD, HGNC:HGNC:8977, HumanCyc Gene:HS10353, ModBase:O00329, NCBI Gene:5293, OMIM:602839, RefSeq DNA:NG_023434, RefSeq DNA:NT_021937, RefSeq Protein:NP_005017, RefSeq RNA:NM_005026, UCSC Genome Browser:NM_005026, UniProtKB:A7E2E0, UniProtKB:O00329 No chr1 9711789 9789172 9629889 9729114 +PA33311 5294 HGNC:8978 ENSG00000105851 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma Yes No Comparative Toxicogenomics Database:5294, Ensembl:ENSG00000105851, GenAtlas:PIK3CG, GeneCard:PIK3CG, HGNC:HGNC:8978, HumanCyc Gene:HS02818, ModBase:P48736, NCBI Gene:5294, OMIM:601232, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_002640, RefSeq RNA:NM_002649, UCSC Genome Browser:NM_002649, UniProtKB:A4D0Q6, UniProtKB:P48736 No chr7 106505723 106547592 106865278 106908978 +PA162399553 113791 HGNC:24942 ENSG00000100100 phosphoinositide-3-kinase interacting protein 1 PIK3IP1 transmembrane inhibitor of PI3K HGFL, MGC17330, TrIP Yes No Comparative Toxicogenomics Database:113791, Ensembl:ENSG00000100100, GeneCard:PIK3IP1, HGNC:HGNC:24942, HumanCyc Gene:HS12386, ModBase:Q96FE7, NCBI Gene:113791, RefSeq DNA:NT_011520, RefSeq Protein:NP_001129383, RefSeq Protein:NP_443112, RefSeq RNA:NM_001135911, RefSeq RNA:NM_052880, UniProtKB:B4DRR9, UniProtKB:Q96FE7 No chr22 31677579 31688833 31281593 31292534 +PA33312 5295 HGNC:8979 ENSG00000145675 phosphoinositide-3-kinase regulatory subunit 1 PIK3R1 """PI3 kinase-associated p85"", ""growth factor receptor bound 1"", ""phosphoinositide-3-kinase regulatory subunit alpha"", ""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)""" GRB1, p85, p85-ALPHA, p85alpha Yes Yes Comparative Toxicogenomics Database:5295, Ensembl:ENSG00000145675, GenAtlas:PIK3R1, GeneCard:PIK3R1, HGNC:HGNC:8979, HumanCyc Gene:HS07270, ModBase:P27986, NCBI Gene:5295, OMIM:171833, RefSeq DNA:NG_012849, RefSeq DNA:NT_006713, RefSeq Protein:NP_001229395, RefSeq Protein:NP_852556, RefSeq Protein:NP_852664, RefSeq Protein:NP_852665, RefSeq RNA:NM_001242466, RefSeq RNA:NM_181504, RefSeq RNA:NM_181523, RefSeq RNA:NM_181524, UCSC Genome Browser:NM_181504, UniProtKB:P27986 No chr5 67511584 67597649 68215737 68301821 +PA166352050 HGNC:31392 phosphoinositide-3-kinase, regulatory subunit 1, opposite strand PIK3R1OS Yes No HGNC:HGNC:31392 No 0 0 0 0 +PA33313 5296 HGNC:8980 ENSG00000105647 phosphoinositide-3-kinase regulatory subunit 2 PIK3R2 """phosphoinositide-3-kinase regulatory subunit beta"", ""phosphoinositide-3-kinase, regulatory subunit 2 (beta)""" P85B, p85, p85-BETA, p85beta Yes Yes Comparative Toxicogenomics Database:5296, Ensembl:ENSG00000105647, GenAtlas:PIK3R2, GeneCard:PIK3R2, HGNC:HGNC:8980, HumanCyc Gene:HS02779, ModBase:O00459, NCBI Gene:5296, OMIM:603157, RefSeq DNA:NT_011295, RefSeq Protein:NP_005018, RefSeq RNA:NM_005027, UCSC Genome Browser:NM_005027, UniProtKB:O00459 No chr19 18263988 18281343 18153178 18170533 +PA33314 8503 HGNC:8981 ENSG00000117461 phosphoinositide-3-kinase regulatory subunit 3 PIK3R3 """phosphoinositide-3-kinase regulatory subunit gamma"", ""phosphoinositide-3-kinase, regulatory subunit 3 (gamma)""" p55 Yes No Comparative Toxicogenomics Database:8503, Ensembl:ENSG00000117461, GenAtlas:PIK3R3, GeneCard:PIK3R3, HGNC:HGNC:8981, HumanCyc Gene:HS04135, ModBase:Q92569, NCBI Gene:8503, OMIM:606076, RefSeq DNA:NT_032977, RefSeq Protein:NP_001107644, RefSeq Protein:NP_003620, RefSeq RNA:NM_001114172, RefSeq RNA:NM_003629, UCSC Genome Browser:NM_003629, UniProtKB:Q8N381, UniProtKB:Q92569 No chr1 46505812 46642167 46040140 46176495 +PA33315 30849 HGNC:8982 ENSG00000196455 phosphoinositide-3-kinase regulatory subunit 4 PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4 VPS15, p150 Yes No Comparative Toxicogenomics Database:30849, Ensembl:ENSG00000196455, GenAtlas:PIK3R4, GeneCard:PIK3R4, HGNC:HGNC:8982, HumanCyc Gene:HS03788, ModBase:Q99570, NCBI Gene:30849, OMIM:602610, RefSeq DNA:NT_005612, RefSeq Protein:NP_055417, RefSeq RNA:NM_014602, UCSC Genome Browser:NM_014602, UniProtKB:Q99570 No chr3 130397778 130465696 130678934 130746852 +PA134890823 23533 HGNC:30035 ENSG00000141506 phosphoinositide-3-kinase regulatory subunit 5 PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 P101-PI3K, p101 Yes Yes Ensembl:ENSG00000141506, GeneCard:PIK3R5, HGNC:HGNC:30035, HumanCyc Gene:HS13887, ModBase:Q8WYR1, NCBI Gene:23533, OMIM:611317, RefSeq DNA:NT_010718, RefSeq Protein:NP_001136105, RefSeq Protein:NP_055123, RefSeq RNA:NM_001142633, RefSeq RNA:NM_014308, UniProtKB:Q8WYR1 No chr17 8782233 8869029 8878916 8965712 +PA162399570 146850 HGNC:27101 ENSG00000276231 phosphoinositide-3-kinase regulatory subunit 6 PIK3R6 phosphoinositide-3-kinase, regulatory subunit 6 C17orf38, FLJ34500, HsT41028, p87PIKAP Yes No Ensembl:ENSG00000276231, GeneCard:PIK3R6, HGNC:HGNC:27101, ModBase:Q5UE93, NCBI Gene:146850, OMIM:611462, RefSeq DNA:NT_010718, RefSeq Protein:NP_001010855, RefSeq RNA:NM_001010855, UniProtKB:Q5UE93 No chr17 8706055 8770994 8802723 8870003 +PA165697116 200576 HGNC:23785 ENSG00000115020 phosphoinositide kinase, FYVE-type zinc finger containing PIKFYVE """phosphoinositide kinase, FYVE finger containing"", ""zinc finger, FYVE domain containing 29""" FAB1, KIAA0981, MGC40423, PIKfyve, PIP5K, PIP5K3, ZFYVE29, p235 Yes No Comparative Toxicogenomics Database:200576, Ensembl:ENSG00000115020, GeneCard:PIKFYVE, HGNC:HGNC:23785, HumanCyc Gene:HS03825, ModBase:Q9Y2I7, NCBI Gene:200576, OMIM:121850, OMIM:609414, RefSeq DNA:NG_021188, RefSeq DNA:NT_005403, RefSeq Protein:NP_001171471, RefSeq Protein:NP_055855, RefSeq Protein:NP_689884, RefSeq RNA:NM_001002881, RefSeq RNA:NM_001178000, RefSeq RNA:NM_015040, RefSeq RNA:NM_152671, UniProtKB:Q08AR7, UniProtKB:Q8N5H0, UniProtKB:Q9Y2I7 No chr2 209130990 209223475 208266178 208358751 +PA134873007 29992 HGNC:20396 ENSG00000085514 paired immunoglobin like type 2 receptor alpha PILRA paired immunoglobin-like type 2 receptor alpha FDF03 Yes No Comparative Toxicogenomics Database:29992, Ensembl:ENSG00000085514, GeneCard:PILRA, HGNC:HGNC:20396, HumanCyc Gene:HS01499, ModBase:Q9UKJ1, NCBI Gene:29992, OMIM:605341, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_038467, RefSeq Protein:NP_840056, RefSeq Protein:NP_840057, RefSeq RNA:NM_013439, RefSeq RNA:NM_178272, RefSeq RNA:NM_178273, UniProtKB:Q9UKJ1 No chr7 99971068 99997722 100373445 100400099 +PA134906700 29990 HGNC:18297 ENSG00000121716 paired immunoglobin like type 2 receptor beta PILRB paired immunoglobin-like type 2 receptor beta FDFACT1, FDFACT2 Yes No Comparative Toxicogenomics Database:29990, Ensembl:ENSG00000121716, GeneCard:PILRB, HGNC:HGNC:18297, HumanCyc Gene:HS04514, ModBase:Q9UKJ0, NCBI Gene:29990, OMIM:605342, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_038468, RefSeq Protein:NP_778212, RefSeq Protein:NP_839956, RefSeq RNA:NM_013440, RefSeq RNA:NM_175047, RefSeq RNA:NM_178238, RefSeq RNA:NR_036569, RefSeq RNA:NR_036570, UniProtKB:Q9UKJ0 No chr7 99955626 99965454 100358003 100367831 +PA33318 5292 HGNC:8986 ENSG00000137193 Pim-1 proto-oncogene, serine/threonine kinase PIM1 pim-1 oncogene PIM Yes No Comparative Toxicogenomics Database:5292, Ensembl:ENSG00000137193, GenAtlas:PIM1, GeneCard:PIM1, HGNC:HGNC:8986, HumanCyc Gene:HS06287, ModBase:P11309, NCBI Gene:5292, OMIM:164960, RefSeq DNA:NT_007592, RefSeq Protein:NP_002639, RefSeq RNA:NM_002648, UCSC Genome Browser:NM_002648, UniProtKB:P11309 No chr6 37137922 37143204 37170146 37175428 +PA33319 11040 HGNC:8987 ENSG00000102096 Pim-2 proto-oncogene, serine/threonine kinase PIM2 pim-2 oncogene Yes No Comparative Toxicogenomics Database:11040, Ensembl:ENSG00000102096, GenAtlas:PIM2, GeneCard:PIM2, HGNC:HGNC:8987, HumanCyc Gene:HS02350, ModBase:Q9P1W9, NCBI Gene:11040, OMIM:300295, RefSeq DNA:NG_016262, RefSeq DNA:NT_079573, RefSeq Protein:NP_006866, RefSeq RNA:NM_006875, UCSC Genome Browser:NM_006875, UniProtKB:A8K4G6, UniProtKB:Q9P1W9 No chrX 48770459 48776413 48913182 48919136 +PA134980758 415116 HGNC:19310 ENSG00000198355 Pim-3 proto-oncogene, serine/threonine kinase PIM3 pim-3 oncogene Yes No Comparative Toxicogenomics Database:415116, Ensembl:ENSG00000198355, GeneCard:PIM3, HGNC:HGNC:19310, ModBase:Q86V86, NCBI Gene:415116, OMIM:610580, RefSeq DNA:NT_011520, RefSeq Protein:NP_001001852, RefSeq RNA:NM_001001852, UniProtKB:Q86V86 No chr22 50354143 50357720 49960495 49964072 +PA142671874 54478 HGNC:25483 ENSG00000129195 PICALM interacting mitotic regulator PIMREG """CALM interacting protein expressed in thymus and spleen"", ""Regulator of chromosome segregation protein 1"", ""family with sequence similarity 64, member A""" CATS, FAM64A, FLJ10156, FLJ10491, RCS1 Yes No Ensembl:ENSG00000129195, GeneCard:FAM64A, HGNC:HGNC:25483, HumanCyc Gene:HS13294, NCBI Gene:54478, RefSeq DNA:NT_010718, RefSeq Protein:NP_001182157, RefSeq Protein:NP_061886, RefSeq RNA:NM_001195228, RefSeq RNA:NM_019013, UniProtKB:Q9BSJ6 No chr17 6347735 6354385 6444305 6451065 +PA33320 5300 HGNC:8988 ENSG00000127445 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 PIN1 parvulin PIN1, protein interacting with never in mitosis A1 dod Yes Yes Comparative Toxicogenomics Database:5300, Ensembl:ENSG00000127445, GenAtlas:PIN1, GeneCard:PIN1, HGNC:HGNC:8988, HumanCyc Gene:HS05098, ModBase:Q13526, NCBI Gene:5300, OMIM:601052, RefSeq DNA:NT_011295, RefSeq Protein:NP_006212, RefSeq RNA:NM_006221, RefSeq RNA:NR_038422, RefSeq RNA:NR_038830, UCSC Genome Browser:NM_006221, UniProtKB:Q13526 No chr19 9945883 9960365 9835207 9849689 +PA33321 5301 HGNC:8989 ENSG00000229359 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 pseudogene 1 PIN1P1 Yes No Ensembl:ENSG00000229359, GenAtlas:PIN1L, GeneCard:PIN1P1, HGNC:HGNC:8989, ModBase:O15428, NCBI Gene:5301, OMIM:602051, RefSeq DNA:NT_032977, RefSeq RNA:NR_023916, UCSC Genome Browser:NM_006222 No chr1 70385005 70386000 69919322 69920317 +PA33324 5303 HGNC:8992 ENSG00000102309 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 PIN4 """parvulin"", ""protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)""" EPVH, PAR14, PAR17 Yes No Comparative Toxicogenomics Database:5303, Ensembl:ENSG00000102309, GenAtlas:PIN4, GeneCard:PIN4, HGNC:HGNC:8992, HumanCyc Gene:HS02381, ModBase:Q9Y237, NCBI Gene:5303, OMIM:300252, RefSeq DNA:NG_016328, RefSeq DNA:NT_011669, RefSeq Protein:NP_001164218, RefSeq Protein:NP_006214, RefSeq RNA:NM_001170747, RefSeq RNA:NM_006223, RefSeq RNA:NR_033187, UCSC Genome Browser:NM_006223, UniProtKB:B3KXM0, UniProtKB:Q9Y237 No chrX 71401526 71483814 72181676 72263964 +PA33325 65018 HGNC:14581 ENSG00000158828 PTEN induced kinase 1 PINK1 PTEN induced putative kinase 1 BRPK, PARK6 Yes No Comparative Toxicogenomics Database:65018, Ensembl:ENSG00000158828, GenAtlas:PINK1, GeneCard:PINK1, HGNC:HGNC:14581, HumanCyc Gene:HS08335, ModBase:Q9BXM7, NCBI Gene:65018, OMIM:605909, OMIM:608309, RefSeq DNA:NG_008164, RefSeq DNA:NT_004610, RefSeq Protein:NP_115785, RefSeq RNA:NM_032409, UCSC Genome Browser:NM_032409, UniProtKB:Q9BXM7 No chr1 20959948 20978004 20633455 20651511 +PA166049118 390940 HGNC:44206 ENSG00000234465 phospholipase A2 inhibitor and LY6/PLAUR domain containing PINLYP Yes No Ensembl:ENSG00000234465, HGNC:HGNC:44206, NCBI Gene:390940 No chr19 44080952 44086256 43575399 43582104 +PA165585852 54984 HGNC:30046 ENSG00000171056, ENSG00000258724 PIN2 (TERF1) interacting telomerase inhibitor 1 PINX1 """PIN2 interacting protein 1"", ""PIN2/TERF1 interacting, telomerase inhibitor 1"", ""liver-related putative tumor suppressor""" FLJ20565, Gno1, LPTL, LPTS, MGC8850, PinX1, Pxr1 Yes No Ensembl:ENSG00000171056, Ensembl:ENSG00000258724, GeneCard:PINX1, HGNC:HGNC:30046, NCBI Gene:54984, OMIM:606505, RefSeq DNA:NT_077531, RefSeq Protein:NP_060354, RefSeq RNA:NM_017884, UniProtKB:Q96BK5 No chr8 10622473 10697394 10764961 10839899 +PA33326 5304 HGNC:8993 ENSG00000159763 prolactin induced protein PIP apocrine, gross cystic disease fluid protein 15, prolactin-induced protein, prolactin-inducible protein, secretory actin-binding protein BRST-2, GCDFP-15, GCDFP15, GPIP4, SABP Yes No Comparative Toxicogenomics Database:5304, Ensembl:ENSG00000159763, GenAtlas:PIP, GeneCard:PIP, HGNC:HGNC:8993, HumanCyc Gene:HS08420, NCBI Gene:5304, OMIM:176720, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_002643, RefSeq RNA:NM_002652, UCSC Genome Browser:NM_002652, UniProtKB:P12273 No chr7 142829174 142836834 143132081 143139741 +PA162399615 5305 HGNC:8997 ENSG00000150867 phosphatidylinositol-5-phosphate 4-kinase type 2 alpha PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha PIP5K2A, PIP5KIIA, PIP5KIIalpha Yes No Ensembl:ENSG00000150867, GeneCard:PIP4K2A, HGNC:HGNC:8997, HumanCyc Gene:HS07693, ModBase:P48426, NCBI Gene:5305, OMIM:603140, RefSeq DNA:NT_008705, RefSeq Protein:NP_005019, RefSeq RNA:NM_005028, UniProtKB:P48426 No chr10 22823766 23003503 22534837 22714574 +PA162399640 8396 HGNC:8998 ENSG00000276293 phosphatidylinositol-5-phosphate 4-kinase type 2 beta PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta PIP5K2B, PIP5KIIB, PIP5KIIbeta Yes No Ensembl:ENSG00000276293, GeneCard:PIP4K2B, HGNC:HGNC:8998, HumanCyc Gene:HS06865, ModBase:P78356, NCBI Gene:8396, OMIM:603261, RefSeq DNA:NT_010783, RefSeq Protein:NP_003550, RefSeq RNA:NM_003559, UniProtKB:P78356 No chr17 36921944 36956218 38765691 38799965 +PA162399665 79837 HGNC:23786 ENSG00000166908 phosphatidylinositol-5-phosphate 4-kinase type 2 gamma PIP4K2C phosphatidylinositol-5-phosphate 4-kinase, type II, gamma FLJ22055, PIP5K2C Yes No Ensembl:ENSG00000166908, GeneCard:PIP4K2C, HGNC:HGNC:23786, HumanCyc Gene:HS09478, NCBI Gene:79837, RefSeq DNA:NT_029419, RefSeq Protein:NP_001139730, RefSeq Protein:NP_001139731, RefSeq Protein:NP_001139732, RefSeq Protein:NP_079055, RefSeq RNA:NM_001146258, RefSeq RNA:NM_001146259, RefSeq RNA:NM_001146260, RefSeq RNA:NM_024779, UniProtKB:B3KQV3, UniProtKB:B4DM11, UniProtKB:B4DY44, UniProtKB:Q8TBX8 No chr12 57984942 57997211 57591159 57603428 +PA134919069 90809 HGNC:19299 ENSG00000165782 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 PIP4P1 """transmembrane protein 55B"", ""type I PtdIns-4,5-P(2) 4-phosphatase"", ""type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase""" C14orf9, MGC26684, TMEM55B Yes No Ensembl:ENSG00000165782, GeneCard:TMEM55B, HGNC:HGNC:19299, HumanCyc Gene:HS15363, ModBase:Q86T03, NCBI Gene:90809, OMIM:609865, RefSeq DNA:NT_026437, RefSeq Protein:NP_001094284, RefSeq Protein:NP_653169, RefSeq RNA:NM_001100814, RefSeq RNA:NM_144568, UniProtKB:Q86T03 No chr14 20926012 20929637 20457853 20461612 +PA142670771 55529 HGNC:25452 ENSG00000155099 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 PIP4P2 """transmembrane protein 55A"", ""type II PtdIns-4,5-P(2) 4-phosphatase"", ""type II phosphatidylinositol-4,5-bisphosphate 4-phosphatase""" DKFZp762O076, TMEM55A Yes No Ensembl:ENSG00000155099, GeneCard:TMEM55A, HGNC:HGNC:25452, HumanCyc Gene:HS14553, ModBase:Q8N4L2, NCBI Gene:55529, OMIM:609864, RefSeq DNA:NT_008046, RefSeq Protein:NP_061180, RefSeq RNA:NM_018710, UniProtKB:Q8N4L2 No chr8 92006499 92053203 90994271 91040975 +PA33327 8394 HGNC:8994 ENSG00000143398 phosphatidylinositol-4-phosphate 5-kinase type 1 alpha PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha Yes No Comparative Toxicogenomics Database:8394, Ensembl:ENSG00000143398, GenAtlas:PIP5K1A, GeneCard:PIP5K1A, HGNC:HGNC:8994, HumanCyc Gene:HS07047, ModBase:Q99755, NCBI Gene:8394, OMIM:603275, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129108, RefSeq Protein:NP_001129109, RefSeq Protein:NP_001129110, RefSeq Protein:NP_003548, RefSeq RNA:NM_001135636, RefSeq RNA:NM_001135637, RefSeq RNA:NM_001135638, RefSeq RNA:NM_003557, UCSC Genome Browser:NM_003557, UniProtKB:B4DIN0, UniProtKB:Q99755 No chr1 151171021 151222007 151198003 151249536 +PA33328 8395 HGNC:8995 ENSG00000107242 phosphatidylinositol-4-phosphate 5-kinase type 1 beta PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta MSS4, STM7 Yes No Comparative Toxicogenomics Database:8395, Ensembl:ENSG00000107242, GenAtlas:PIP5K1B, GeneCard:PIP5K1B, HGNC:HGNC:8995, HumanCyc Gene:HS02982, ModBase:Q8NHQ5, NCBI Gene:8395, OMIM:602745, RefSeq DNA:NT_008470, RefSeq Protein:NP_003549, RefSeq RNA:NM_003558, UCSC Genome Browser:NM_003558, UniProtKB:O14986 No chr9 71320188 71624092 68705217 69009176 +PA33329 23396 HGNC:8996 ENSG00000186111 phosphatidylinositol-4-phosphate 5-kinase type 1 gamma PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma KIAA0589, LCCS3, PIP5Kgamma Yes Yes Comparative Toxicogenomics Database:23396, Ensembl:ENSG00000186111, GenAtlas:PIP5K1C, GeneCard:PIP5K1C, HGNC:HGNC:8996, HumanCyc Gene:HS02710, ModBase:O60331, NCBI Gene:23396, OMIM:606102, OMIM:611369, RefSeq DNA:NG_012161, RefSeq DNA:NT_011255, RefSeq Protein:NP_001182662, RefSeq Protein:NP_036530, RefSeq RNA:NM_001195733, RefSeq RNA:NM_012398, UCSC Genome Browser:NM_012398, UniProtKB:O60331 No chr19 3630179 3700484 3630181 3700492 +PA134926015 138429 HGNC:28711 ENSG00000167103 phosphatidylinositol-4-phosphate 5-kinase like 1 PIP5KL1 phosphatidylinositol phosphate kinase homolog, phosphatidylinositol-4-phosphate 5-kinase-like 1 MGC46424, PIPKH, bA203J24.5 Yes No Ensembl:ENSG00000167103, GeneCard:PIP5KL1, HGNC:HGNC:28711, NCBI Gene:138429, OMIM:612865, RefSeq DNA:NT_008470, RefSeq Protein:NP_001128691, RefSeq Protein:NP_775763, RefSeq RNA:NM_001135219, RefSeq RNA:NM_173492, UniProtKB:Q5T9C9 No chr9 130683808 130693076 127920886 127931958 +PA33332 51268 HGNC:17804 ENSG00000179761 pipecolic acid and sarcosine oxidase PIPOX L-pipecolic acid oxidase, pipecolic acid oxidase LPIPOX Yes No Comparative Toxicogenomics Database:51268, Ensembl:ENSG00000179761, GenAtlas:PIPOX, GeneCard:PIPOX, HGNC:HGNC:17804, HumanCyc Gene:HS11411, ModBase:Q9P0Z9, NCBI Gene:51268, RefSeq DNA:NT_010799, RefSeq Protein:NP_057602, RefSeq RNA:NM_016518, UCSC Genome Browser:NM_016518, UniProtKB:Q9P0Z9 No chr17 27369918 27384245 29042900 29057227 +PA134987143 266971 HGNC:23733 ENSG00000180764 PIP5K1A and PSMD4-like, pseudogene PIPSL PIP5K1A-PSMD4, PIP5K1L1, PIP5K1P3 Yes No Ensembl:ENSG00000180764, HGNC:HGNC:23733, NCBI Gene:266971, RefSeq DNA:NT_030059, RefSeq Protein:XP_943742, RefSeq Protein:XP_948879, RefSeq Protein:XP_948882, RefSeq RNA:NR_002319, RefSeq RNA:XM_938649, RefSeq RNA:XM_943786, RefSeq RNA:XM_943789, RefSeq RNA:XR_000872, RefSeq RNA:XR_000873, RefSeq RNA:XR_000874 No chr10 95717897 95721672 93958140 93961915 +PA134870022 8544 HGNC:30048 ENSG00000087842 pirin PIR pirin (iron-binding nuclear protein) Yes No Comparative Toxicogenomics Database:8544, Ensembl:ENSG00000087842, GeneCard:PIR, HGNC:HGNC:30048, HumanCyc Gene:HS01582, ModBase:O00625, NCBI Gene:8544, OMIM:603329, RefSeq DNA:NG_012549, RefSeq DNA:NT_167197, RefSeq Protein:NP_001018119, RefSeq Protein:NP_003653, RefSeq RNA:NM_001018109, RefSeq RNA:NM_003662, UniProtKB:O00625 No chrX 15402921 15511711 15384799 15493588 +PA165752152 100313844 HGNC:37505 piwi-interacting RNA cluster 1 PIRC1 Yes No GeneCard:PIRC1, HGNC:HGNC:37505, NCBI Gene:100313844 No chr1 +PA165697206 100313783 HGNC:37514 piwi-interacting RNA cluster 10 PIRC10 Yes No GeneCard:PIRC10, HGNC:HGNC:37514, NCBI Gene:100313783 No chr2 +PA165393940 100313912 HGNC:37604 piwi-interacting RNA cluster 100 PIRC100 Yes No GeneCard:PIRC100, HGNC:HGNC:37604, NCBI Gene:100313912 No chr19 +PA165393941 100313888 HGNC:37605 piwi-interacting RNA cluster 101 PIRC101 Yes No GeneCard:PIRC101, HGNC:HGNC:37605, NCBI Gene:100313888 No chr19 +PA165393952 100313876 HGNC:37606 piwi-interacting RNA cluster 102 PIRC102 Yes No GeneCard:PIRC102, HGNC:HGNC:37606, NCBI Gene:100313876 No chr19 +PA165392489 100313901 HGNC:37607 piwi-interacting RNA cluster 103 PIRC103 Yes No GeneCard:PIRC103, HGNC:HGNC:37607, NCBI Gene:100313901 No chr20 +PA165392490 100313801 HGNC:37608 piwi-interacting RNA cluster 104 PIRC104 Yes No GeneCard:PIRC104, HGNC:HGNC:37608, NCBI Gene:100313801 No chr20 +PA165378441 100313936 HGNC:37609 piwi-interacting RNA cluster 105 PIRC105 Yes No GeneCard:PIRC105, HGNC:HGNC:37609, NCBI Gene:100313936 No chr21 +PA165378353 100313877 HGNC:37610 piwi-interacting RNA cluster 106 PIRC106 Yes No GeneCard:PIRC106, HGNC:HGNC:37610, NCBI Gene:100313877 No chr22 +PA165378354 100313802 HGNC:37611 piwi-interacting RNA cluster 107 PIRC107 Yes No GeneCard:PIRC107, HGNC:HGNC:37611, NCBI Gene:100313802 No chr22 +PA165378355 100313878 HGNC:37612 piwi-interacting RNA cluster 108 PIRC108 Yes No GeneCard:PIRC108, HGNC:HGNC:37612, NCBI Gene:100313878 No chr22 +PA165378356 100313913 HGNC:37613 piwi-interacting RNA cluster 109 PIRC109 Yes No GeneCard:PIRC109, HGNC:HGNC:37613, NCBI Gene:100313913 No chr22 +PA165698028 100313897 HGNC:37515 piwi-interacting RNA cluster 11 PIRC11 Yes No GeneCard:PIRC11, HGNC:HGNC:37515, NCBI Gene:100313897 No chr3 +PA165378357 100313879 HGNC:37614 piwi-interacting RNA cluster 110 PIRC110 Yes No GeneCard:PIRC110, HGNC:HGNC:37614, NCBI Gene:100313879 No chr22 +PA165378358 100313937 HGNC:37615 piwi-interacting RNA cluster 111 PIRC111 Yes No GeneCard:PIRC111, HGNC:HGNC:37615, NCBI Gene:100313937 No chr22 +PA165378359 100313803 HGNC:37616 piwi-interacting RNA cluster 112 PIRC112 Yes No GeneCard:PIRC112, HGNC:HGNC:37616, NCBI Gene:100313803 No chr22 +PA165757359 100313880 HGNC:37617 piwi-interacting RNA cluster 113 PIRC113 Yes No GeneCard:PIRC113, HGNC:HGNC:37617, NCBI Gene:100313880 No chrX +PA165757360 100313881 HGNC:37618 piwi-interacting RNA cluster 114 PIRC114 Yes No GeneCard:PIRC114, HGNC:HGNC:37618, NCBI Gene:100313881 No chrX +PA165698029 100313808 HGNC:37516 piwi-interacting RNA cluster 12 PIRC12 Yes No GeneCard:PIRC12, HGNC:HGNC:37516, NCBI Gene:100313808 No chr3 +PA165698086 100313925 HGNC:37517 piwi-interacting RNA cluster 13 PIRC13 Yes No GeneCard:PIRC13, HGNC:HGNC:37517, NCBI Gene:100313925 No chr3 +PA165698087 100313784 HGNC:37518 piwi-interacting RNA cluster 14 PIRC14 Yes No GeneCard:PIRC14, HGNC:HGNC:37518, NCBI Gene:100313784 No chr3 +PA165698088 100313848 HGNC:37519 piwi-interacting RNA cluster 15 PIRC15 Yes No GeneCard:PIRC15, HGNC:HGNC:37519, NCBI Gene:100313848 No chr3 +PA165664420 100313849 HGNC:37520 piwi-interacting RNA cluster 16 PIRC16 Yes No GeneCard:PIRC16, HGNC:HGNC:37520, NCBI Gene:100313849 No chr4 +PA165664431 100313809 HGNC:37521 piwi-interacting RNA cluster 17 PIRC17 Yes No GeneCard:PIRC17, HGNC:HGNC:37521, NCBI Gene:100313809 No chr4 +PA165664432 100313906 HGNC:37522 piwi-interacting RNA cluster 18 PIRC18 Yes No GeneCard:PIRC18, HGNC:HGNC:37522, NCBI Gene:100313906 No chr4 +PA165664433 100313926 HGNC:37523 piwi-interacting RNA cluster 19 PIRC19 Yes No GeneCard:PIRC19, HGNC:HGNC:37523, NCBI Gene:100313926 No chr4 +PA165752169 100313924 HGNC:37506 piwi-interacting RNA cluster 2 PIRC2 Yes No GeneCard:PIRC2, HGNC:HGNC:37506, NCBI Gene:100313924 No chr1 +PA165660423 100313785 HGNC:37524 piwi-interacting RNA cluster 20 PIRC20 Yes No GeneCard:PIRC20, HGNC:HGNC:37524, NCBI Gene:100313785 No chr5 +PA165660424 100313916 HGNC:37525 piwi-interacting RNA cluster 21 PIRC21 Yes No GeneCard:PIRC21, HGNC:HGNC:37525, NCBI Gene:100313916 No chr5 +PA165660425 100313850 HGNC:37526 piwi-interacting RNA cluster 22 PIRC22 Yes No GeneCard:PIRC22, HGNC:HGNC:37526, NCBI Gene:100313850 No chr5 +PA165660426 100313786 HGNC:37527 piwi-interacting RNA cluster 23 PIRC23 Yes No GeneCard:PIRC23, HGNC:HGNC:37527, NCBI Gene:100313786 No chr5 +PA165618184 100313810 HGNC:37528 piwi-interacting RNA cluster 24 PIRC24 Yes No GeneCard:PIRC24, HGNC:HGNC:37528, NCBI Gene:100313810 No chr6 +PA165618185 100313851 HGNC:37529 piwi-interacting RNA cluster 25 PIRC25 Yes No GeneCard:PIRC25, HGNC:HGNC:37529, NCBI Gene:100313851 No chr6 +PA165618187 100313852 HGNC:37530 piwi-interacting RNA cluster 26 PIRC26 Yes No GeneCard:PIRC26, HGNC:HGNC:37530, NCBI Gene:100313852 No chr6 +PA165618188 100313907 HGNC:37531 piwi-interacting RNA cluster 27 PIRC27 Yes No GeneCard:PIRC27, HGNC:HGNC:37531, NCBI Gene:100313907 No chr6 +PA165618190 100313893 HGNC:37532 piwi-interacting RNA cluster 28 PIRC28 Yes No GeneCard:PIRC28, HGNC:HGNC:37532, NCBI Gene:100313893 No chr6 +PA165618189 100313927 HGNC:37533 piwi-interacting RNA cluster 29 PIRC29 Yes No GeneCard:PIRC29, HGNC:HGNC:37533, NCBI Gene:100313927 No chr7 +PA165752170 100313905 HGNC:37507 piwi-interacting RNA cluster 3 PIRC3 Yes No GeneCard:PIRC3, HGNC:HGNC:37507, NCBI Gene:100313905 No chr1 +PA165618191 100313853 HGNC:37534 piwi-interacting RNA cluster 30 PIRC30 Yes No GeneCard:PIRC30, HGNC:HGNC:37534, NCBI Gene:100313853 No chr7 +PA165618193 100313787 HGNC:37535 piwi-interacting RNA cluster 31 PIRC31 Yes No GeneCard:PIRC31, HGNC:HGNC:37535, NCBI Gene:100313787 No chr7 +PA165618194 100313811 HGNC:37536 piwi-interacting RNA cluster 32 PIRC32 Yes No GeneCard:PIRC32, HGNC:HGNC:37536, NCBI Gene:100313811 No chr7 +PA165618220 100313854 HGNC:37537 piwi-interacting RNA cluster 33 PIRC33 Yes No GeneCard:PIRC33, HGNC:HGNC:37537, NCBI Gene:100313854 No chr7 +PA165618221 100313890 HGNC:37538 piwi-interacting RNA cluster 34 PIRC34 Yes No GeneCard:PIRC34, HGNC:HGNC:37538, NCBI Gene:100313890 No chr7 +PA165585854 100313855 HGNC:37539 piwi-interacting RNA cluster 35 PIRC35 Yes No GeneCard:PIRC35, HGNC:HGNC:37539, NCBI Gene:100313855 No chr8 +PA165586050 100313928 HGNC:37540 piwi-interacting RNA cluster 36 PIRC36 Yes No GeneCard:PIRC36, HGNC:HGNC:37540, NCBI Gene:100313928 No chr9 +PA165586068 100313812 HGNC:37541 piwi-interacting RNA cluster 37 PIRC37 Yes No GeneCard:PIRC37, HGNC:HGNC:37541, NCBI Gene:100313812 No chr9 +PA165586069 100313788 HGNC:37542 piwi-interacting RNA cluster 38 PIRC38 Yes No GeneCard:PIRC38, HGNC:HGNC:37542, NCBI Gene:100313788 No chr9 +PA165586084 100313856 HGNC:37543 piwi-interacting RNA cluster 39 PIRC39 Yes No GeneCard:PIRC39, HGNC:HGNC:37543, NCBI Gene:100313856 No chr9 +PA165752171 100313807 HGNC:37508 piwi-interacting RNA cluster 4 PIRC4 Yes No GeneCard:PIRC4, HGNC:HGNC:37508, NCBI Gene:100313807 No chr1 +PA165586085 100313898 HGNC:37544 piwi-interacting RNA cluster 40 PIRC40 Yes No GeneCard:PIRC40, HGNC:HGNC:37544, NCBI Gene:100313898 No chr9 +PA165586108 100313917 HGNC:37545 piwi-interacting RNA cluster 41 PIRC41 Yes No GeneCard:PIRC41, HGNC:HGNC:37545, NCBI Gene:100313917 No chr9 +PA165586109 100313789 HGNC:37546 piwi-interacting RNA cluster 42 PIRC42 Yes No GeneCard:PIRC42, HGNC:HGNC:37546, NCBI Gene:100313789 No chr9 +PA165586110 100313857 HGNC:37547 piwi-interacting RNA cluster 43 PIRC43 Yes No GeneCard:PIRC43, HGNC:HGNC:37547, NCBI Gene:100313857 No chr9 +PA165586112 100313908 HGNC:37548 piwi-interacting RNA cluster 44 PIRC44 Yes No GeneCard:PIRC44, HGNC:HGNC:37548, NCBI Gene:100313908 No chr9 +PA165586130 100313813 HGNC:37549 piwi-interacting RNA cluster 45 PIRC45 Yes No GeneCard:PIRC45, HGNC:HGNC:37549, NCBI Gene:100313813 No chr9 +PA165586131 100313858 HGNC:37550 piwi-interacting RNA cluster 46 PIRC46 Yes No GeneCard:PIRC46, HGNC:HGNC:37550, NCBI Gene:100313858 No chr9 +PA165586156 100313859 HGNC:37551 piwi-interacting RNA cluster 47 PIRC47 Yes No GeneCard:PIRC47, HGNC:HGNC:37551, NCBI Gene:100313859 No chr9 +PA165548993 100313790 HGNC:37552 piwi-interacting RNA cluster 48 PIRC48 Yes No GeneCard:PIRC48, HGNC:HGNC:37552, NCBI Gene:100313790 No chr10 +PA165549042 100313929 HGNC:37553 piwi-interacting RNA cluster 49 PIRC49 Yes No GeneCard:PIRC49, HGNC:HGNC:37553, NCBI Gene:100313929 No chr10 +PA165752172 100313845 HGNC:37509 piwi-interacting RNA cluster 5 PIRC5 Yes No GeneCard:PIRC5, HGNC:HGNC:37509, NCBI Gene:100313845 No chr1 +PA165543539 100313814 HGNC:37554 piwi-interacting RNA cluster 50 PIRC50 Yes No GeneCard:PIRC50, HGNC:HGNC:37554, NCBI Gene:100313814 No chr11 +PA165543540 100313860 HGNC:37555 piwi-interacting RNA cluster 51 PIRC51 Yes No GeneCard:PIRC51, HGNC:HGNC:37555, NCBI Gene:100313860 No chr11 +PA165543541 100313791 HGNC:37556 piwi-interacting RNA cluster 52 PIRC52 Yes No GeneCard:PIRC52, HGNC:HGNC:37556, NCBI Gene:100313791 No chr11 +PA165513214 100313861 HGNC:37557 piwi-interacting RNA cluster 53 PIRC53 Yes No GeneCard:PIRC53, HGNC:HGNC:37557, NCBI Gene:100313861 No chr12 +PA165513237 100313815 HGNC:37558 piwi-interacting RNA cluster 54 PIRC54 Yes No GeneCard:PIRC54, HGNC:HGNC:37558, NCBI Gene:100313815 No chr12 +PA165513238 100313792 HGNC:37559 piwi-interacting RNA cluster 55 PIRC55 Yes No GeneCard:PIRC55, HGNC:HGNC:37559, NCBI Gene:100313792 No chr12 +PA165513240 100313862 HGNC:37560 piwi-interacting RNA cluster 56 PIRC56 Yes No GeneCard:PIRC56, HGNC:HGNC:37560, NCBI Gene:100313862 No chr12 +PA165513298 100313930 HGNC:37561 piwi-interacting RNA cluster 57 PIRC57 Yes No GeneCard:PIRC57, HGNC:HGNC:37561, NCBI Gene:100313930 No chr12 +PA165505340 100313918 HGNC:37562 piwi-interacting RNA cluster 58 PIRC58 Yes No GeneCard:PIRC58, HGNC:HGNC:37562, NCBI Gene:100313918 No chr13 +PA165479253 100313909 HGNC:37563 piwi-interacting RNA cluster 59 PIRC59 Yes No GeneCard:PIRC59, HGNC:HGNC:37563, NCBI Gene:100313909 No chr14 +PA165752173 100313846 HGNC:37510 piwi-interacting RNA cluster 6 PIRC6 Yes No GeneCard:PIRC6, HGNC:HGNC:37510, NCBI Gene:100313846 No chr1 +PA165479255 100313863 HGNC:37564 piwi-interacting RNA cluster 60 PIRC60 Yes No GeneCard:PIRC60, HGNC:HGNC:37564, NCBI Gene:100313863 No chr14 +PA165479226 100313899 HGNC:37565 piwi-interacting RNA cluster 61 PIRC61 Yes No GeneCard:PIRC61, HGNC:HGNC:37565, NCBI Gene:100313899 No chr15 +PA165479227 100313816 HGNC:37566 piwi-interacting RNA cluster 62 PIRC62 Yes No GeneCard:PIRC62, HGNC:HGNC:37566, NCBI Gene:100313816 No chr15 +PA165479229 100313793 HGNC:37567 piwi-interacting RNA cluster 63 PIRC63 Yes No GeneCard:PIRC63, HGNC:HGNC:37567, NCBI Gene:100313793 No chr15 +PA165479252 100313864 HGNC:37568 piwi-interacting RNA cluster 64 PIRC64 Yes No GeneCard:PIRC64, HGNC:HGNC:37568, NCBI Gene:100313864 No chr15 +PA165479254 100313794 HGNC:37569 piwi-interacting RNA cluster 65 PIRC65 Yes No GeneCard:PIRC65, HGNC:HGNC:37569, NCBI Gene:100313794 No chr15 +PA165479256 100313865 HGNC:37570 piwi-interacting RNA cluster 66 PIRC66 Yes No GeneCard:PIRC66, HGNC:HGNC:37570, NCBI Gene:100313865 No chr15 +PA165479258 100313817 HGNC:37571 piwi-interacting RNA cluster 67 PIRC67 Yes No GeneCard:PIRC67, HGNC:HGNC:37571, NCBI Gene:100313817 No chr15 +PA165479259 100313931 HGNC:37572 piwi-interacting RNA cluster 68 PIRC68 Yes No GeneCard:PIRC68, HGNC:HGNC:37572, NCBI Gene:100313931 No chr15 +PA165479277 100313910 HGNC:37573 piwi-interacting RNA cluster 69 PIRC69 Yes No GeneCard:PIRC69, HGNC:HGNC:37573, NCBI Gene:100313910 No chr15 +PA165752244 100313782 HGNC:37511 piwi-interacting RNA cluster 7 PIRC7 Yes No GeneCard:PIRC7, HGNC:HGNC:37511, NCBI Gene:100313782 No chr1 +PA165479279 100313866 HGNC:37574 piwi-interacting RNA cluster 70 PIRC70 Yes No GeneCard:PIRC70, HGNC:HGNC:37574, NCBI Gene:100313866 No chr15 +PA165479280 100313818 HGNC:37575 piwi-interacting RNA cluster 71 PIRC71 Yes No GeneCard:PIRC71, HGNC:HGNC:37575, NCBI Gene:100313818 No chr15 +PA165479282 100313867 HGNC:37576 piwi-interacting RNA cluster 72 PIRC72 Yes No GeneCard:PIRC72, HGNC:HGNC:37576, NCBI Gene:100313867 No chr15 +PA165479283 100313795 HGNC:37577 piwi-interacting RNA cluster 73 PIRC73 Yes No GeneCard:PIRC73, HGNC:HGNC:37577, NCBI Gene:100313795 No chr15 +PA165479285 100313932 HGNC:37578 piwi-interacting RNA cluster 74 PIRC74 Yes No GeneCard:PIRC74, HGNC:HGNC:37578, NCBI Gene:100313932 No chr15 +PA165479286 100313919 HGNC:37579 piwi-interacting RNA cluster 75 PIRC75 Yes No GeneCard:PIRC75, HGNC:HGNC:37579, NCBI Gene:100313919 No chr15 +PA165479288 100313796 HGNC:37580 piwi-interacting RNA cluster 76 PIRC76 Yes No GeneCard:PIRC76, HGNC:HGNC:37580, NCBI Gene:100313796 No chr15 +PA165479289 100313868 HGNC:37581 piwi-interacting RNA cluster 77 PIRC77 Yes No GeneCard:PIRC77, HGNC:HGNC:37581, NCBI Gene:100313868 No chr15 +PA165479307 100313869 HGNC:37582 piwi-interacting RNA cluster 78 PIRC78 Yes No GeneCard:PIRC78, HGNC:HGNC:37582, NCBI Gene:100313869 No chr15 +PA165479308 100313797 HGNC:37583 piwi-interacting RNA cluster 79 PIRC79 Yes No GeneCard:PIRC79, HGNC:HGNC:37583, NCBI Gene:100313797 No chr15 +PA165752245 100313915 HGNC:37512 piwi-interacting RNA cluster 8 PIRC8 Yes No GeneCard:PIRC8, HGNC:HGNC:37512, NCBI Gene:100313915 No chr1 +PA165479329 100313819 HGNC:37584 piwi-interacting RNA cluster 80 PIRC80 Yes No GeneCard:PIRC80, HGNC:HGNC:37584, NCBI Gene:100313819 No chr15 +PA165479331 100313870 HGNC:37585 piwi-interacting RNA cluster 81 PIRC81 Yes No GeneCard:PIRC81, HGNC:HGNC:37585, NCBI Gene:100313870 No chr15 +PA165450575 100313933 HGNC:37586 piwi-interacting RNA cluster 82 PIRC82 Yes No GeneCard:PIRC82, HGNC:HGNC:37586, NCBI Gene:100313933 No chr16 +PA165450576 100313891 HGNC:37587 piwi-interacting RNA cluster 83 PIRC83 Yes No GeneCard:PIRC83, HGNC:HGNC:37587, NCBI Gene:100313891 No chr16 +PA165450577 100313820 HGNC:37588 piwi-interacting RNA cluster 84 PIRC84 Yes No GeneCard:PIRC84, HGNC:HGNC:37588, NCBI Gene:100313820 No chr16 +PA165450578 100313871 HGNC:37589 piwi-interacting RNA cluster 85 PIRC85 Yes No GeneCard:PIRC85, HGNC:HGNC:37589, NCBI Gene:100313871 No chr16 +PA165450595 100313911 HGNC:37590 piwi-interacting RNA cluster 86 PIRC86 Yes No GeneCard:PIRC86, HGNC:HGNC:37590, NCBI Gene:100313911 No chr16 +PA165450596 100313872 HGNC:37591 piwi-interacting RNA cluster 87 PIRC87 Yes No GeneCard:PIRC87, HGNC:HGNC:37591, NCBI Gene:100313872 No chr16 +PA165450597 100313894 HGNC:37592 piwi-interacting RNA cluster 88 PIRC88 Yes No GeneCard:PIRC88, HGNC:HGNC:37592, NCBI Gene:100313894 No chr16 +PA165450598 100313873 HGNC:37593 piwi-interacting RNA cluster 89 PIRC89 Yes No GeneCard:PIRC89, HGNC:HGNC:37593, NCBI Gene:100313873 No chr16 +PA165697207 100313847 HGNC:37513 piwi-interacting RNA cluster 9 PIRC9 Yes No GeneCard:PIRC9, HGNC:HGNC:37513, NCBI Gene:100313847 No chr2 +PA165432351 100313798 HGNC:37594 piwi-interacting RNA cluster 90 PIRC90 Yes No GeneCard:PIRC90, HGNC:HGNC:37594, NCBI Gene:100313798 No chr17 +PA165432372 100313900 HGNC:37595 piwi-interacting RNA cluster 91 PIRC91 Yes No GeneCard:PIRC91, HGNC:HGNC:37595, NCBI Gene:100313900 No chr17 +PA165432373 100313920 HGNC:37596 piwi-interacting RNA cluster 92 PIRC92 Yes No GeneCard:PIRC92, HGNC:HGNC:37596, NCBI Gene:100313920 No chr17 +PA165432410 100313934 HGNC:37597 piwi-interacting RNA cluster 93 PIRC93 Yes No GeneCard:PIRC93, HGNC:HGNC:37597, NCBI Gene:100313934 No chr17 +PA165432411 100313799 HGNC:37598 piwi-interacting RNA cluster 94 PIRC94 Yes No GeneCard:PIRC94, HGNC:HGNC:37598, NCBI Gene:100313799 No chr17 +PA165432446 100313935 HGNC:37599 piwi-interacting RNA cluster 95 PIRC95 Yes No GeneCard:PIRC95, HGNC:HGNC:37599, NCBI Gene:100313935 No chr17 +PA165429096 100313800 HGNC:37600 piwi-interacting RNA cluster 96 PIRC96 Yes No GeneCard:PIRC96, HGNC:HGNC:37600, NCBI Gene:100313800 No chr18 +PA165393953 100313821 HGNC:37601 piwi-interacting RNA cluster 97 PIRC97 Yes No GeneCard:PIRC97, HGNC:HGNC:37601, NCBI Gene:100313821 No chr19 +PA165393966 100313874 HGNC:37602 piwi-interacting RNA cluster 98 PIRC98 Yes No GeneCard:PIRC98, HGNC:HGNC:37602, NCBI Gene:100313874 No chr19 +PA165393967 100313875 HGNC:37603 piwi-interacting RNA cluster 99 PIRC99 Yes No GeneCard:PIRC99, HGNC:HGNC:37603, NCBI Gene:100313875 No chr19 +PA165432447 644139 HGNC:37239 ENSG00000233670 phosphoinositide interacting regulator of transient receptor potential channels PIRT phosphoinositide-interacting regulator of TRPV1, phosphoinositide-interacting regulator of transient receptor potential channels Yes No Ensembl:ENSG00000233670, GeneCard:PIRT, HGNC:HGNC:37239, NCBI Gene:644139, OMIM:612068, RefSeq DNA:NT_010718, RefSeq Protein:NP_001094857, RefSeq RNA:NM_001101387 No chr17 10725792 10741418 10822475 10838101 +PA33333 23761 HGNC:8999 ENSG00000241878 phosphatidylserine decarboxylase PISD PSDC, dJ858B16.2 Yes No Comparative Toxicogenomics Database:23761, Ensembl:ENSG00000241878, GenAtlas:PISD, GeneCard:PISD, HGNC:HGNC:8999, HumanCyc Gene:HS01985, NCBI Gene:23761, OMIM:612770, RefSeq DNA:NT_011520, RefSeq Protein:NP_055153, RefSeq RNA:NM_014338, UCSC Genome Browser:NM_014338, UniProtKB:B1AKM7, UniProtKB:Q9UG56 No chr22 32014477 32058550 31618491 31630824 +PA33334 140464 HGNC:16671 ENSG00000281473 polled intersex syndrome regulated transcript 1 (non-protein coding RNA) PISRT1 non-protein coding RNA 195 NCRNA00195 Yes No Ensembl:ENSG00000281473, GenAtlas:PISRT1, GeneCard:PISRT1, HGNC:HGNC:16671, NCBI Gene:140464, RefSeq DNA:NT_005612, RefSeq RNA:NR_027070 No chr3 138951834 138952364 139232992 139233522 +PA142672446 57095 HGNC:25022 ENSG00000057757 PITH domain containing 1 PITHD1 PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1, TXNL1 C-terminal like C1orf128, HT014, TXNL1CL Yes No Ensembl:ENSG00000057757, GeneCard:C1orf128, HGNC:HGNC:25022, HumanCyc Gene:HS12146, ModBase:Q9GZP4, NCBI Gene:57095, RefSeq DNA:NT_004610, RefSeq Protein:NP_065095, RefSeq RNA:NM_020362, UniProtKB:Q9GZP4 No chr1 24104876 24114722 23778386 23788232 +PA33335 5306 HGNC:9001 ENSG00000174238 phosphatidylinositol transfer protein alpha PITPNA phosphatidylinositol transfer protein, alpha PITPN, VIB1A Yes No Comparative Toxicogenomics Database:5306, Ensembl:ENSG00000174238, GenAtlas:PITPNA, GeneCard:PITPNA, HGNC:HGNC:9001, HumanCyc Gene:HS10779, ModBase:Q00169, NCBI Gene:5306, OMIM:600174, RefSeq DNA:NG_013017, RefSeq DNA:NT_010718, RefSeq Protein:NP_006215, RefSeq RNA:NM_006224, UCSC Genome Browser:NM_006224, UniProtKB:Q00169 No chr17 1421283 1466110 1517989 1562816 +PA33336 23760 HGNC:9002 ENSG00000180957 phosphatidylinositol transfer protein beta PITPNB phosphatidylinositol transfer protein, beta VIB1B Yes No Comparative Toxicogenomics Database:23760, Ensembl:ENSG00000180957, GenAtlas:PITPNB, GeneCard:PITPNB, HGNC:HGNC:9002, HumanCyc Gene:HS11557, ModBase:P48739, NCBI Gene:23760, OMIM:606876, RefSeq DNA:NT_011520, RefSeq Protein:NP_036531, RefSeq RNA:NM_012399, UCSC Genome Browser:NM_012399, UniProtKB:P48739 No chr22 28247657 28315255 27851669 27919306 +PA128394642 26207 HGNC:21045 ENSG00000154217 phosphatidylinositol transfer protein cytoplasmic 1 PITPNC1 phosphatidylinositol transfer protein, cytoplasmic 1 RDGB-BETA, RDGBB, RDGBB1 Yes No Comparative Toxicogenomics Database:26207, Ensembl:ENSG00000154217, GeneCard:PITPNC1, HGNC:HGNC:21045, HumanCyc Gene:HS07960, NCBI Gene:26207, OMIM:605134, RefSeq DNA:NT_010783, RefSeq Protein:NP_036549, RefSeq Protein:NP_858057, RefSeq RNA:NM_012417, RefSeq RNA:NM_181671, UCSC Genome Browser:NM_012417, UniProtKB:Q9UKF7 No chr17 65373397 65693379 67377281 67697263 +PA33337 9600 HGNC:9003 ENSG00000110697 phosphatidylinositol transfer protein membrane associated 1 PITPNM1 """PYK2 N-terminal domain-interacting receptor 2"", ""phosphatidylinositol transfer protein, membrane-associated 1"", ""retinal degeneration B alpha 1""" DRES9, NIR2, PITPNM, RDGB, RDGB1, RDGBA1, Rd9 Yes No Comparative Toxicogenomics Database:9600, Ensembl:ENSG00000110697, GeneCard:PITPNM1, HGNC:HGNC:9003, HumanCyc Gene:HS03328, ModBase:O00562, NCBI Gene:9600, OMIM:608794, RefSeq DNA:NT_167190, RefSeq Protein:NP_001124320, RefSeq Protein:NP_004901, RefSeq RNA:NM_001130848, RefSeq RNA:NM_004910, UCSC Genome Browser:NM_004910, UniProtKB:B2R787, UniProtKB:O00562 No chr11 67259231 67272843 67491760 67505391 +PA134963002 57605 HGNC:21044 ENSG00000090975 phosphatidylinositol transfer protein membrane associated 2 PITPNM2 phosphatidylinositol transfer protein, membrane-associated 2 NIR3, RDGB2, RDGBA2 Yes Yes Ensembl:ENSG00000090975, GeneCard:PITPNM2, HGNC:HGNC:21044, HumanCyc Gene:HS01713, ModBase:Q9BZ72, NCBI Gene:57605, OMIM:608920, RefSeq DNA:NT_009755, RefSeq Protein:NP_065896, RefSeq RNA:NM_020845, UniProtKB:Q9BZ72, UniProtKB:Q9UF51 No chr12 123468027 123635376 122983480 123110489 +PA134971883 83394 HGNC:21043 ENSG00000091622 PITPNM family member 3 PITPNM3 atypical chemokine receptor 6 ACKR6, CORD5, NIR1, RDGBA3 Yes No Ensembl:ENSG00000091622, GeneCard:PITPNM3, HGNC:HGNC:21043, HumanCyc Gene:HS01741, ModBase:Q9BZ71, NCBI Gene:83394, OMIM:600977, OMIM:608921, RefSeq DNA:NG_016020, RefSeq DNA:NT_010718, RefSeq Protein:NP_001159438, RefSeq Protein:NP_112497, RefSeq RNA:NM_001165966, RefSeq RNA:NM_031220, UniProtKB:A1A5C9, UniProtKB:Q9BZ71 No chr17 6354583 6459877 6451263 6556557 +PA134902269 10531 HGNC:17663 ENSG00000107959 pitrilysin metallopeptidase 1 PITRM1 """PreP peptidasome"", ""presequence protease, mitochondrial""" KIAA1104, MP1, PreP, hMP1 Yes No Comparative Toxicogenomics Database:10531, Ensembl:ENSG00000107959, GeneCard:PITRM1, HGNC:HGNC:17663, HumanCyc Gene:HS03050, ModBase:Q9BVJ5, NCBI Gene:10531, RefSeq DNA:NT_008705, RefSeq Protein:NP_001229236, RefSeq Protein:NP_001229238, RefSeq Protein:NP_055704, RefSeq RNA:NM_001242307, RefSeq RNA:NM_001242309, RefSeq RNA:NM_014889, UniProtKB:B3KM51, UniProtKB:Q5JRX3 No chr10 3179919 3215033 3137727 3172841 +PA33338 5307 HGNC:9004 ENSG00000069011 paired like homeodomain 1 PITX1 paired-like homeodomain 1 BFT, POTX, PTX1 Yes No Comparative Toxicogenomics Database:5307, Ensembl:ENSG00000069011, GenAtlas:PITX1, GeneCard:PITX1, HGNC:HGNC:9004, HumanCyc Gene:HS00952, ModBase:P78337, NCBI Gene:5307, OMIM:119800, OMIM:602149, RefSeq DNA:NG_012114, RefSeq DNA:NT_034772, RefSeq Protein:NP_002644, RefSeq RNA:NM_002653, UCSC Genome Browser:NM_002653, UniProtKB:P78337 No chr5 134363424 134369964 135027734 135034274 +PA33339 5308 HGNC:9005 ENSG00000164093 paired like homeodomain 2 PITX2 paired-like homeodomain 2 ARP1, Brx1, IGDS, IHG2, IRID2, Otlx2, RGS, RIEG, RIEG1, RS Yes No Comparative Toxicogenomics Database:5308, Ensembl:ENSG00000164093, GenAtlas:PITX2, GeneCard:PITX2, HGNC:HGNC:9005, HumanCyc Gene:HS09009, ModBase:Q99697, NCBI Gene:5308, OMIM:137600, OMIM:180500, OMIM:180550, OMIM:601542, OMIM:604229, RefSeq DNA:NG_007120, RefSeq DNA:NT_016354, RefSeq Protein:NP_000316, RefSeq Protein:NP_001191326, RefSeq Protein:NP_001191327, RefSeq Protein:NP_001191328, RefSeq Protein:NP_700475, RefSeq Protein:NP_700476, RefSeq RNA:NM_000325, RefSeq RNA:NM_001204397, RefSeq RNA:NM_001204398, RefSeq RNA:NM_001204399, RefSeq RNA:NM_153426, RefSeq RNA:NM_153427, UCSC Genome Browser:NM_000325, UniProtKB:Q99697 No chr4 111538579 111563279 110617423 110642123 +PA33340 5309 HGNC:9006 ENSG00000107859 paired like homeodomain 3 PITX3 paired-like homeodomain 3 ASMD Yes No Comparative Toxicogenomics Database:5309, Ensembl:ENSG00000107859, GenAtlas:PITX3, GeneCard:PITX3, HGNC:HGNC:9006, HumanCyc Gene:HS03038, ModBase:O75364, NCBI Gene:5309, OMIM:107250, OMIM:602669, OMIM:610623, RefSeq DNA:NG_008147, RefSeq DNA:NT_030059, RefSeq Protein:NP_005020, RefSeq RNA:NM_005029, UCSC Genome Browser:NM_005029, UniProtKB:O75364 No chr10 103989946 104001231 102230189 102241474 +PA33341 9271 HGNC:9007 ENSG00000125207 piwi like RNA-mediated gene silencing 1 PIWIL1 piwi-like RNA-mediated gene silencing 1 CT80.1, HIWI, PIWI Yes No Ensembl:ENSG00000125207, GenAtlas:PIWIL1, GeneCard:PIWIL1, HGNC:HGNC:9007, HumanCyc Gene:HS04860, ModBase:Q96J94, NCBI Gene:9271, OMIM:605571, RefSeq DNA:NT_009755, RefSeq Protein:NP_001177900, RefSeq Protein:NP_004755, RefSeq RNA:NM_001190971, RefSeq RNA:NM_004764, UCSC Genome Browser:NM_004764, UniProtKB:Q96J94 No chr12 130822433 130856877 130337887 130412708 +PA38461 55124 HGNC:17644 ENSG00000197181 piwi like RNA-mediated gene silencing 2 PIWIL2 Hiwi-like, cancer/testis antigen 80, piwi-like RNA-mediated gene silencing 2 CT80, FLJ10351, HILI, Mili Yes No Comparative Toxicogenomics Database:55124, Ensembl:ENSG00000197181, GenAtlas:PIWIL2, GeneCard:PIWIL2, HGNC:HGNC:17644, ModBase:Q8TC59, NCBI Gene:55124, OMIM:610312, RefSeq DNA:NT_167187, RefSeq Protein:NP_001129193, RefSeq Protein:NP_060538, RefSeq RNA:NM_001135721, RefSeq RNA:NM_018068, UCSC Genome Browser:NM_018068, UniProtKB:Q8TC59 No chr8 22132810 22215560 22275297 22356866 +PA38332 440822 HGNC:18443 ENSG00000184571 piwi like RNA-mediated gene silencing 3 PIWIL3 piwi-like RNA-mediated gene silencing 3 HIWI3 Yes No Ensembl:ENSG00000184571, GenAtlas:PIWIL3, GeneCard:PIWIL3, HGNC:HGNC:18443, ModBase:Q7Z3Z3, NCBI Gene:440822, OMIM:610314, RefSeq DNA:NT_011520, RefSeq Protein:NP_001008496, RefSeq RNA:NM_001008496, UniProtKB:Q7Z3Z3 No chr22 25115001 25170687 24719034 24774720 +PA38333 143689 HGNC:18444 ENSG00000134627 piwi like RNA-mediated gene silencing 4 PIWIL4 piwi-like RNA-mediated gene silencing 4 FLJ36156, HIWI2, Miwi2 Yes No Ensembl:ENSG00000134627, GenAtlas:PIWIL4, GeneCard:PIWIL4, HGNC:HGNC:18444, HumanCyc Gene:HS13537, ModBase:Q7Z3Z4, NCBI Gene:143689, OMIM:610315, RefSeq DNA:NT_167190, RefSeq Protein:NP_689644, RefSeq RNA:NM_152431, UniProtKB:Q7Z3Z4 No chr11 94279876 94354587 94567308 94621421 +PA33342 64219 HGNC:16648 ENSG00000181191 praja ring finger ubiquitin ligase 1 PJA1 praja ring finger 1, E3 ubiquitin protein ligase FLJ11830, PRAJA1, RNF70 Yes No Comparative Toxicogenomics Database:64219, Ensembl:ENSG00000181191, GenAtlas:PJA1, GeneCard:PJA1, HGNC:HGNC:16648, HumanCyc Gene:HS17640, ModBase:Q8NG27, NCBI Gene:64219, OMIM:300420, RefSeq DNA:NG_021258, RefSeq DNA:NT_011669, RefSeq Protein:NP_001027568, RefSeq Protein:NP_071763, RefSeq Protein:NP_660095, RefSeq RNA:NM_001032396, RefSeq RNA:NM_022368, RefSeq RNA:NM_145119, UCSC Genome Browser:NM_022368, UniProtKB:A2A322, UniProtKB:Q8NG27 No chrX 68380581 68385365 69160738 69165522 +PA134873520 9867 HGNC:17481 ENSG00000198961 praja ring finger ubiquitin ligase 2 PJA2 praja ring finger 2, E3 ubiquitin protein ligase KIAA0438, Neurodap1, PRAJA2, RNF131 Yes No Comparative Toxicogenomics Database:9867, Ensembl:ENSG00000198961, GeneCard:PJA2, HGNC:HGNC:17481, NCBI Gene:9867, RefSeq DNA:NT_034772, RefSeq Protein:NP_055634, RefSeq RNA:NM_014819, UniProtKB:O43164 No chr5 108670410 108745675 109334709 109409974 +PA134927047 494513 HGNC:29502 ENSG00000204311 pejvakin PJVK deafness, autosomal recessive 59 DFNB59, pejvakin Yes No Comparative Toxicogenomics Database:494513, Ensembl:ENSG00000204311, GeneCard:DFNB59, HGNC:HGNC:29502, ModBase:Q0ZLH3, NCBI Gene:494513, OMIM:610219, OMIM:610220, RefSeq DNA:NG_012186, RefSeq DNA:NT_005403, RefSeq Protein:NP_001036167, RefSeq RNA:NM_001042702, UniProtKB:Q0ZLH3 No chr2 179316163 179326149 178450592 178461390 +PA35521 5310 HGNC:9008 ENSG00000008710 polycystin 1, transient receptor potential channel interacting PKD1 """polycystic kidney disease 1 (autosomal dominant)"", ""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1""" PBP, Pc-1, TRPP1 Yes No Comparative Toxicogenomics Database:5310, Ensembl:ENSG00000008710, GenAtlas:PKD1, GeneCard:PKD1, HGNC:HGNC:9008, HumanCyc Gene:HS00254, ModBase:P98161, NCBI Gene:5310, OMIM:173900, OMIM:601313, RefSeq DNA:NG_008617, RefSeq DNA:NT_010393, RefSeq Protein:NP_000287, RefSeq Protein:NP_001009944, RefSeq RNA:NM_000296, RefSeq RNA:NM_001009944, UCSC Genome Browser:NM_000296, UniProtKB:P98161 No chr16 2138709 2185899 2088708 2135898 +PA38282 168507 HGNC:18053 ENSG00000158683 polycystin 1 like 1, transient receptor potential channel interacting PKD1L1 polycystic kidney disease 1 like 1, polycystin-1L1 PRO19563 Yes No Ensembl:ENSG00000158683, GenAtlas:PKD1L1, GeneCard:PKD1L1, HGNC:HGNC:18053, HumanCyc Gene:HS08317, ModBase:Q8TDX9, NCBI Gene:168507, OMIM:609721, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_612152, RefSeq RNA:NM_138295, UCSC Genome Browser:NM_138295, UniProtKB:Q8TDX9 No chr7 47814250 47988071 47774603 47958622 +PA134874396 114780 HGNC:21715 ENSG00000166473 polycystin 1 like 2 (gene/pseudogene) PKD1L2 polycystic kidney disease 1-like 2 KIAA1879 Yes Yes Ensembl:ENSG00000166473, GeneCard:PKD1L2, HGNC:HGNC:21715, NCBI Gene:114780, OMIM:607894, RefSeq DNA:NT_010498, RefSeq Protein:NP_001070248, RefSeq Protein:NP_443124, RefSeq RNA:NM_001076780, RefSeq RNA:NM_052892, UniProtKB:Q7Z442 No chr16 81134484 81253975 81100879 81220370 +PA134907578 342372 HGNC:21716 ENSG00000277481 polycystin 1 like 3, transient receptor potential channel interacting PKD1L3 polycystic kidney disease 1-like 3 Yes No Comparative Toxicogenomics Database:342372, Ensembl:ENSG00000277481, GeneCard:PKD1L3, HGNC:HGNC:21716, ModBase:Q7Z443, NCBI Gene:342372, OMIM:607895, RefSeq DNA:NT_010498, RefSeq Protein:NP_853514, RefSeq Protein:XP_002344137, RefSeq Protein:XP_002344954, RefSeq Protein:XP_002347712, RefSeq RNA:NM_181536, RefSeq RNA:XM_002344096, RefSeq RNA:XM_002344913, RefSeq RNA:XM_002347671 No chr16 71963441 72033877 71929538 72000401 +PA134993778 339044 HGNC:30065 ENSG00000244257 polycystic kidney disease 1 (autosomal dominant) pseudogene 1 PKD1P1 Yes No Ensembl:ENSG00000244257, GeneCard:PKD1P1, HGNC:HGNC:30065, NCBI Gene:339044, RefSeq DNA:NT_010393, RefSeq Protein:NP_848636, RefSeq Protein:XP_002343464, RefSeq RNA:NM_178541, RefSeq RNA:NR_036447, RefSeq RNA:XM_002343423, RefSeq RNA:XR_078513 No chr16 16411466 16444465 16317609 16350608 +PA134985064 283955 HGNC:30066 ENSG00000227827 polycystic kidney disease 1 (autosomal dominant) pseudogene 2 PKD1P2 Yes No Ensembl:ENSG00000227827, GeneCard:PKD1P2, HGNC:HGNC:30066, NCBI Gene:283955, RefSeq DNA:NG_002795, RefSeq DNA:NT_010393 No chr16 16450274 16471364 16356417 16377507 +PA134977963 339039 HGNC:30067 ENSG00000183458 polycystic kidney disease 1 (autosomal dominant) pseudogene 3 PKD1P3 Yes No Ensembl:ENSG00000183458, GeneCard:PKD1P3, HGNC:HGNC:30067, NCBI Gene:339039, RefSeq DNA:NG_002796, RefSeq DNA:NT_010393 No chr16 15005334 15029565 14911477 14935708 +PA134969292 353512 HGNC:30068 ENSG00000205746 polycystic kidney disease 1 (autosomal dominant) pseudogene 4 PKD1P4 Yes No Ensembl:ENSG00000205746, GeneCard:PKD1P4, HGNC:HGNC:30068, NCBI Gene:353512, RefSeq DNA:NG_002800, RefSeq DNA:NT_010393 No chr16 18428257 18446140 18334400 18352283 +PA134914060 348156 HGNC:30069 ENSG00000254681 polycystic kidney disease 1 (autosomal dominant) pseudogene 5 PKD1P5 Yes No Ensembl:ENSG00000254681, GeneCard:PKD1P5, HGNC:HGNC:30069, NCBI Gene:348156, RefSeq DNA:NG_002798, RefSeq DNA:NT_010393 No chr16 18468378 18495871 18374521 18402014 +PA134872166 353511 HGNC:30070 ENSG00000250251 polycystic kidney disease 1 (autosomal dominant) pseudogene 6 PKD1P6 Yes No Ensembl:ENSG00000250251, GeneCard:PKD1P6, HGNC:HGNC:30070, NCBI Gene:353511, RefSeq DNA:NG_002799, RefSeq DNA:NT_010393 No chr16 15218997 15248382 15125139 15154873 +PA33343 5311 HGNC:9009 ENSG00000118762 polycystin 2, transient receptor potential cation channel PKD2 """polycystic kidney disease 2 (autosomal dominant)"", ""transient receptor potential cation channel, subfamily P, member 2""" PC2, PKD4, Pc-2, TRPP2 Yes Yes Comparative Toxicogenomics Database:5311, Ensembl:ENSG00000118762, GenAtlas:PKD2, GeneCard:PKD2, HGNC:HGNC:9009, HumanCyc Gene:HS04248, ModBase:Q13563, NCBI Gene:5311, OMIM:173910, OMIM:613095, RefSeq DNA:NG_008604, RefSeq DNA:NT_016354, RefSeq Protein:NP_000288, RefSeq RNA:NM_000297, UCSC Genome Browser:NM_000297, UniProtKB:Q13563 No chr4 88928799 88998931 88007647 88077779 +PA33344 9033 HGNC:9011 ENSG00000107593 polycystin 2 like 1, transient receptor potential cation channel PKD2L1 """polycystic kidney disease 2-like 1"", ""polycystin-L"", ""transient receptor potential cation channel, subfamily P, member 3""" PCL, PKD2L, PKDL, TRPP3 Yes No Ensembl:ENSG00000107593, GenAtlas:PKD2L1, GeneCard:PKD2L1, HGNC:HGNC:9011, HumanCyc Gene:HS03009, IUPHAR Receptor:505, ModBase:Q9P0L9, NCBI Gene:9033, OMIM:604532, RefSeq DNA:NT_030059, RefSeq Protein:NP_057196, RefSeq RNA:NM_016112, UCSC Genome Browser:NM_016112, UniProtKB:Q9P0L9 No chr10 102047903 102090243 100288145 100346472 +PA33345 27039 HGNC:9012 ENSG00000078795 polycystin 2 like 2, transient receptor potential cation channel PKD2L2 polycystic kidney disease 2-like 2, transient receptor potential cation channel subfamily P member 5 TRPP5 Yes No Ensembl:ENSG00000078795, GenAtlas:PKD2L2, GeneCard:PKD2L2, HGNC:HGNC:9012, HumanCyc Gene:HS01300, IUPHAR Receptor:506, ModBase:Q9NZM6, NCBI Gene:27039, OMIM:604669, RefSeq DNA:NT_034772, RefSeq Protein:NP_055201, RefSeq RNA:NM_014386, UCSC Genome Browser:NM_014386, UniProtKB:Q9NZM6 No chr5 137225125 137276156 137889420 137942747 +PA165697259 91461 HGNC:25123 ENSG00000162878 protein kinase domain containing, cytoplasmic PKDCC vertebrate lonesome kinase SgK493, Vlk Yes No Ensembl:ENSG00000162878, GeneCard:PKDCC, HGNC:HGNC:25123, NCBI Gene:91461, RefSeq DNA:NT_022184, RefSeq Protein:NP_612379, RefSeq RNA:NM_138370, UniProtKB:Q504Y2 No chr2 42275161 42285668 42048021 42058528 +PA33347 10343 HGNC:9015 ENSG00000130943 polycystin family receptor for egg jelly PKDREJ """polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"", ""polycystin (PKD) family receptor for egg jelly""" Yes No Ensembl:ENSG00000130943, GenAtlas:PKDREJ, GeneCard:PKDREJ, HGNC:HGNC:9015, HumanCyc Gene:HS05460, ModBase:Q9NTG1, NCBI Gene:10343, OMIM:604670, RefSeq DNA:NT_011520, RefSeq Protein:NP_006062, RefSeq RNA:NM_006071, UCSC Genome Browser:NM_006071, UniProtKB:Q9NTG1 No chr22 46651560 46659277 46255663 46263322 +PA33348 5314 HGNC:9016 ENSG00000170927 PKHD1 ciliary IPT domain containing fibrocystin/polyductin PKHD1 """PKHD1, fibrocystin/polyductin"", ""fibrocystin"", ""fibrocystin/polyductin complex"", ""polycystic kidney and hepatic disease 1 (autosomal recessive)"", ""polyductin"", ""tigmin""" ARPKD, FCYT, FPC, TIGM1 Yes No Comparative Toxicogenomics Database:5314, Ensembl:ENSG00000170927, GenAtlas:PKHD1, GeneCard:PKHD1, HGNC:HGNC:9016, HumanCyc Gene:HS10210, ModBase:Q8TCZ9, NCBI Gene:5314, OMIM:263200, OMIM:606702, RefSeq DNA:NG_008753, RefSeq DNA:NT_007592, RefSeq Protein:NP_619639, RefSeq Protein:NP_733842, RefSeq RNA:NM_138694, RefSeq RNA:NM_170724, UCSC Genome Browser:NM_138694, UniProtKB:P08F94 No chr6 51480145 51952423 51613291 52087625 +PA134950222 93035 HGNC:20313 ENSG00000205038 PKHD1 like 1 PKHD1L1 polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 Yes No Ensembl:ENSG00000205038, GeneCard:PKHD1L1, HGNC:HGNC:20313, ModBase:Q86WI1, NCBI Gene:93035, OMIM:607843, RefSeq DNA:NT_008046, RefSeq Protein:NP_803875, RefSeq RNA:NM_177531, UniProtKB:Q86WI1 No chr8 110374706 110543500 109362477 109536809 +PA33349 5569 HGNC:9017 ENSG00000171033 cAMP-dependent protein kinase inhibitor alpha PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha PRKACN1 Yes No Comparative Toxicogenomics Database:5569, Ensembl:ENSG00000171033, GenAtlas:PKIA, GeneCard:PKIA, HGNC:HGNC:9017, HumanCyc Gene:HS10230, ModBase:P61925, NCBI Gene:5569, OMIM:606059, RefSeq DNA:NT_008183, RefSeq Protein:NP_006814, RefSeq Protein:NP_862822, RefSeq RNA:NM_006823, RefSeq RNA:NM_181839, UCSC Genome Browser:NM_006823, UniProtKB:P61925 No chr8 79428336 79517502 78516101 78605267 +PA33350 5570 HGNC:9018 ENSG00000135549 cAMP-dependent protein kinase inhibitor beta PKIB protein kinase (cAMP-dependent, catalytic) inhibitor beta PRKACN2 Yes No Comparative Toxicogenomics Database:5570, Ensembl:ENSG00000135549, GenAtlas:PKIB, GeneCard:PKIB, HGNC:HGNC:9018, HumanCyc Gene:HS06028, ModBase:Q9C010, NCBI Gene:5570, OMIM:606914, RefSeq DNA:NT_025741, RefSeq Protein:NP_115860, RefSeq Protein:NP_861459, RefSeq Protein:NP_861460, RefSeq RNA:NM_032471, RefSeq RNA:NM_181794, RefSeq RNA:NM_181795, UCSC Genome Browser:NM_032471, UniProtKB:Q9C010 No chr6 122793062 123047518 122471917 122726373 +PA33351 11142 HGNC:9019 ENSG00000168734 cAMP-dependent protein kinase inhibitor gamma PKIG protein kinase (cAMP-dependent, catalytic) inhibitor gamma Yes No Comparative Toxicogenomics Database:11142, Ensembl:ENSG00000168734, GenAtlas:PKIG, GeneCard:PKIG, HGNC:HGNC:9019, HumanCyc Gene:HS09811, ModBase:Q9Y2B9, NCBI Gene:11142, OMIM:604932, RefSeq DNA:NT_011362, RefSeq Protein:NP_008997, RefSeq Protein:NP_861520, RefSeq Protein:NP_861521, RefSeq RNA:NM_007066, RefSeq RNA:NM_181804, RefSeq RNA:NM_181805, UCSC Genome Browser:NM_007066, UniProtKB:Q549H9, UniProtKB:Q9Y2B9 No chr20 43160422 43247678 44531781 44619037 +PA33352 5313 HGNC:9020 ENSG00000143627 pyruvate kinase L/R PKLR pyruvate kinase, liver and RBC Yes Yes Comparative Toxicogenomics Database:5313, Ensembl:ENSG00000143627, GenAtlas:PKLR, GeneCard:PKLR, HGNC:HGNC:9020, HumanCyc Gene:HS07088, ModBase:P30613, NCBI Gene:5313, OMIM:102900, OMIM:266200, OMIM:609712, RefSeq DNA:NG_011677, RefSeq DNA:NT_004487, RefSeq Protein:NP_000289, RefSeq Protein:NP_870986, RefSeq RNA:NM_000298, RefSeq RNA:NM_181871, UCSC Genome Browser:NM_000298, UniProtKB:P30613 No chr1 155259084 155278531 155289293 155301434 +PA33353 5315 HGNC:9021 ENSG00000067225 pyruvate kinase M1/2 PKM pyruvate kinase, muscle OIP3, PK3, PKM2, THBP1 Yes No Comparative Toxicogenomics Database:5315, Ensembl:ENSG00000067225, GenAtlas:PKM2, GeneCard:PKM2, HGNC:HGNC:9021, HumanCyc Gene:HS00906, ModBase:P14618, NCBI Gene:5315, OMIM:179050, RefSeq DNA:NT_010194, RefSeq Protein:NP_001193725, RefSeq Protein:NP_001193726, RefSeq Protein:NP_001193727, RefSeq Protein:NP_001193728, RefSeq Protein:NP_002645, RefSeq Protein:NP_872270, RefSeq Protein:NP_872271, RefSeq RNA:NM_001206796, RefSeq RNA:NM_001206797, RefSeq RNA:NM_001206798, RefSeq RNA:NM_001206799, RefSeq RNA:NM_002654, RefSeq RNA:NM_182470, RefSeq RNA:NM_182471, UCSC Genome Browser:NM_002654, UniProtKB:P14618 No chr15 72491370 72523901 72199029 72231624 +PA385 9088 HGNC:29650 ENSG00000127564 protein kinase, membrane associated tyrosine/threonine 1 PKMYT1 """membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126""" MYT1, PPP1R126 Yes No Comparative Toxicogenomics Database:9088, Ensembl:ENSG00000127564, GenAtlas:PKMYT1, GeneCard:PKMYT1, HGNC:HGNC:29650, HumanCyc Gene:HS05114, ModBase:Q99640, NCBI Gene:9088, OMIM:602474, RefSeq DNA:NT_010393, RefSeq Protein:NP_004194, RefSeq Protein:NP_872629, RefSeq RNA:NM_004203, RefSeq RNA:NM_182687, UCSC Genome Browser:NM_004203, UniProtKB:Q99640 No chr16 3018101 3030540 2972791 2980539 +PA33769 5585 HGNC:9405 ENSG00000123143 protein kinase N1 PKN1 DBK, MGC46204, PAK1, PKN, PRK1, PRKCL1 Yes No Ensembl:ENSG00000123143, GenAtlas:PKN1, GeneCard:PKN1, HGNC:HGNC:9405, HumanCyc Gene:HS04634, ModBase:Q16512, NCBI Gene:5585, OMIM:601032, RefSeq DNA:NT_011295, RefSeq Protein:NP_002732, RefSeq Protein:NP_998725, RefSeq RNA:NM_002741, RefSeq RNA:NM_213560, UCSC Genome Browser:NM_002741, UniProtKB:Q16512 No chr19 14544166 14582679 14433354 14471867 +PA33770 5586 HGNC:9406 ENSG00000065243 protein kinase N2 PKN2 cardiolipin-activated protein kinase Pak2 PRK2, PRKCL2, Pak-2, STK7 Yes No Comparative Toxicogenomics Database:5586, Ensembl:ENSG00000065243, GenAtlas:PKN2, GeneCard:PKN2, HGNC:HGNC:9406, HumanCyc Gene:HS00834, ModBase:Q16513, NCBI Gene:5586, OMIM:602549, RefSeq DNA:NT_032977, RefSeq Protein:NP_006247, RefSeq RNA:NM_006256, UCSC Genome Browser:NM_006256, UniProtKB:Q16513 No chr1 89149876 89301938 88684144 88836255 +PA134919098 29941 HGNC:17999 ENSG00000160447 protein kinase N3 PKN3 PKNbeta, UTDP4-1 Yes No Comparative Toxicogenomics Database:29941, Ensembl:ENSG00000160447, GeneCard:PKN3, HGNC:HGNC:17999, HumanCyc Gene:HS08502, ModBase:Q6P5Z2, NCBI Gene:29941, OMIM:610714, RefSeq DNA:NT_008470, RefSeq Protein:NP_037487, RefSeq RNA:NM_013355, UniProtKB:Q6P5Z2 No chr9 131464802 131483199 128702497 128720920 +PA33354 5316 HGNC:9022 ENSG00000160199 PBX/knotted 1 homeobox 1 PKNOX1 PREP1 Yes Yes Comparative Toxicogenomics Database:5316, Ensembl:ENSG00000160199, GenAtlas:PKNOX1, GeneCard:PKNOX1, HGNC:HGNC:9022, HumanCyc Gene:HS08460, ModBase:P55347, NCBI Gene:5316, OMIM:602100, RefSeq DNA:NT_011515, RefSeq Protein:NP_004562, RefSeq RNA:NM_004571, UCSC Genome Browser:NM_004571, UniProtKB:P55347, UniProtKB:Q6PKH2, UniProtKB:Q96I87 No chr21 44394643 44453688 42974510 43033931 +PA33355 63876 HGNC:16714 ENSG00000165495 PBX/knotted 1 homeobox 2 PKNOX2 Yes No Comparative Toxicogenomics Database:63876, Ensembl:ENSG00000165495, GenAtlas:PKNOX2, GeneCard:PKNOX2, HGNC:HGNC:16714, HumanCyc Gene:HS09240, ModBase:Q96KN3, NCBI Gene:63876, OMIM:613066, RefSeq DNA:NT_033899, RefSeq Protein:NP_071345, RefSeq RNA:NM_022062, UCSC Genome Browser:NM_022062, UniProtKB:Q96KN3 No chr11 125034559 125303285 125111997 125433389 +PA33356 5317 HGNC:9023 ENSG00000081277 plakophilin 1 PKP1 ectodermal dysplasia/skin fragility syndrome, plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) B6P Yes No Comparative Toxicogenomics Database:5317, Ensembl:ENSG00000081277, GenAtlas:PKP1, GeneCard:PKP1, HGNC:HGNC:9023, HumanCyc Gene:HS01392, ModBase:Q13835, NCBI Gene:5317, OMIM:601975, OMIM:604536, RefSeq DNA:NG_023337, RefSeq DNA:NT_004487, RefSeq Protein:NP_000290, RefSeq Protein:NP_001005337, RefSeq RNA:NM_000299, RefSeq RNA:NM_001005337, UCSC Genome Browser:NM_000299, UniProtKB:Q13835 No chr1 201252580 201302121 201283452 201332993 +PA33357 5318 HGNC:9024 ENSG00000057294 plakophilin 2 PKP2 Yes No Comparative Toxicogenomics Database:5318, Ensembl:ENSG00000057294, GenAtlas:PKP2, GeneCard:PKP2, HGNC:HGNC:9024, HumanCyc Gene:HS00707, ModBase:Q99959, NCBI Gene:5318, OMIM:602861, OMIM:609040, RefSeq DNA:NG_009000, RefSeq DNA:NT_009714, RefSeq Protein:NP_001005242, RefSeq Protein:NP_004563, RefSeq RNA:NM_001005242, RefSeq RNA:NM_004572, UCSC Genome Browser:NM_004572, UniProtKB:A0AV37, UniProtKB:Q99959 No chr12 32943680 33049780 32790746 32896846 +PA134891275 82500 HGNC:13413 plakophilin 2 pseudogene 1 PKP2P1 Yes No GeneCard:PKP2P1, HGNC:HGNC:13413, NCBI Gene:82500, RefSeq DNA:NG_000936, RefSeq DNA:NT_009759 No chr12 6586805 6591355 6477639 6482189 +PA33358 11187 HGNC:9025 ENSG00000184363 plakophilin 3 PKP3 Yes No Comparative Toxicogenomics Database:11187, Ensembl:ENSG00000184363, GenAtlas:PKP3, GeneCard:PKP3, HGNC:HGNC:9025, ModBase:Q9Y446, NCBI Gene:11187, OMIM:605561, RefSeq DNA:NT_009237, RefSeq Protein:NP_009114, RefSeq RNA:NM_007183, UCSC Genome Browser:NM_007183, UniProtKB:Q9Y446 No chr11 392614 404908 392599 404908 +PA33359 8502 HGNC:9026 ENSG00000144283 plakophilin 4 PKP4 p0071 Yes No Comparative Toxicogenomics Database:8502, Ensembl:ENSG00000144283, GenAtlas:PKP4, GeneCard:PKP4, HGNC:HGNC:9026, HumanCyc Gene:HS07162, ModBase:Q99569, NCBI Gene:8502, OMIM:604276, RefSeq DNA:NT_005403, RefSeq Protein:NP_001005476, RefSeq Protein:NP_003619, RefSeq RNA:NM_001005476, RefSeq RNA:NM_003628, UCSC Genome Browser:NM_003628, UniProtKB:Q86W91 No chr2 159313476 159537941 158456880 158681429 +PA134955851 51365 HGNC:17661 ENSG00000144837 phospholipase A1 member A PLA1A phosphatidylserine-specific phospholipase A1 ps-PLA1 Yes No Comparative Toxicogenomics Database:51365, Ensembl:ENSG00000144837, GeneCard:PLA1A, HGNC:HGNC:17661, HumanCyc Gene:HS07209, ModBase:Q53H76, NCBI Gene:51365, OMIM:607460, RefSeq DNA:NT_005612, RefSeq Protein:NP_001193889, RefSeq Protein:NP_001193890, RefSeq Protein:NP_056984, RefSeq RNA:NM_001206960, RefSeq RNA:NM_001206961, RefSeq RNA:NM_015900, UniProtKB:Q53H76 No chr3 119316695 119348658 119597848 119629811 +PA33360 8399 HGNC:9029 ENSG00000069764 phospholipase A2 group X PLA2G10 phospholipase A2, group X GXPLA2 Yes No Comparative Toxicogenomics Database:8399, Ensembl:ENSG00000069764, GenAtlas:PLA2G10, GeneCard:PLA2G10, HGNC:HGNC:9029, HumanCyc Gene:HS00970, NCBI Gene:8399, OMIM:603603, RefSeq DNA:NT_010393, RefSeq Protein:NP_003552, RefSeq RNA:NM_003561, UCSC Genome Browser:NM_003561, UniProtKB:O15496 No chr16 14766405 14788526 14672548 14694663 +PA38347 81579 HGNC:18554 ENSG00000123739 phospholipase A2 group XIIA PLA2G12A phospholipase A2, group XIIA PLA2G12 Yes No Comparative Toxicogenomics Database:81579, Ensembl:ENSG00000123739, GenAtlas:PLA2G12A, GeneCard:PLA2G12A, HGNC:HGNC:18554, HumanCyc Gene:HS04689, ModBase:Q9BZM1, NCBI Gene:81579, OMIM:611652, RefSeq DNA:NT_016354, RefSeq Protein:NP_110448, RefSeq RNA:NM_030821, UCSC Genome Browser:NM_030821, UniProtKB:Q542Y6, UniProtKB:Q9BZM1 No chr4 110631145 110651242 109709989 109730086 +PA38573 84647 HGNC:18555 ENSG00000138308 phospholipase A2 group XIIB PLA2G12B phospholipase A2, group XIIB PLA2G13 Yes No Comparative Toxicogenomics Database:84647, Ensembl:ENSG00000138308, GenAtlas:PLA2G12B, GeneCard:PLA2G12B, HGNC:HGNC:18555, HumanCyc Gene:HS06483, ModBase:Q9BX93, NCBI Gene:84647, OMIM:611653, RefSeq DNA:NT_030059, RefSeq Protein:NP_115951, RefSeq RNA:NM_032562, UCSC Genome Browser:NM_032562, UniProtKB:Q9BX93 No chr10 74694519 74714590 72934762 72955044 +PA164724567 23659 HGNC:17163 ENSG00000103066 phospholipase A2 group XV PLA2G15 phospholipase A2, group XV GXVPLA2, LLPL, LYPLA3 Yes No Ensembl:ENSG00000103066, GeneCard:PLA2G15, HGNC:HGNC:17163, HumanCyc Gene:HS02451, NCBI Gene:23659, OMIM:609362, RefSeq DNA:NT_010498, RefSeq Protein:NP_036452, RefSeq RNA:NM_012320, UniProtKB:Q8NCC3 No chr16 68279240 68294965 68245344 68261062 +PA33361 5319 HGNC:9030 ENSG00000170890 phospholipase A2 group IB PLA2G1B phospholipase A2, group IB (pancreas) PLA2, PLA2A, PPLA2 Yes No Comparative Toxicogenomics Database:5319, Ensembl:ENSG00000170890, GenAtlas:PLA2G1B, GeneCard:PLA2G1B, HGNC:HGNC:9030, HumanCyc Gene:HS10199, ModBase:P04054, NCBI Gene:5319, OMIM:172410, RefSeq DNA:NT_009775, RefSeq Protein:NP_000919, RefSeq RNA:NM_000928, UCSC Genome Browser:NM_000928, UniProtKB:P04054 No chr12 120759914 120765592 120322111 120327789 +PA270 5320 HGNC:9031 ENSG00000188257 phospholipase A2 group IIA PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) PLA2B, PLA2L Yes No Comparative Toxicogenomics Database:5320, Ensembl:ENSG00000188257, GenAtlas:PLA2G2A, GeneCard:PLA2G2A, HGNC:HGNC:9031, HumanCyc Gene:HS05099, ModBase:P14555, NCBI Gene:5320, OMIM:114500, OMIM:172411, RefSeq DNA:NG_012928, RefSeq DNA:NT_004610, RefSeq Protein:NP_000291, RefSeq Protein:NP_001155199, RefSeq Protein:NP_001155200, RefSeq Protein:NP_001155201, RefSeq RNA:NM_000300, RefSeq RNA:NM_001161727, RefSeq RNA:NM_001161728, RefSeq RNA:NM_001161729, UCSC Genome Browser:NM_000300, UniProtKB:P14555 No chr1 20301924 20306932 19975431 19980439 +PA33362 391013 HGNC:9032 ENSG00000187980 phospholipase A2 group IIC PLA2G2C phospholipase A2, group IIC UBXN10-AS1 Yes No Ensembl:ENSG00000187980, GenAtlas:PLA2G2C, GeneCard:PLA2G2C, HGNC:HGNC:9032, ModBase:Q5R387, NCBI Gene:391013, RefSeq DNA:NT_004610, RefSeq Protein:NP_001099042, RefSeq RNA:NM_001105572 No chr1 20490484 20501687 20163085 20177364 +PA33363 26279 HGNC:9033 ENSG00000117215 phospholipase A2 group IID PLA2G2D phospholipase A2, group IID sPLA2S Yes No Comparative Toxicogenomics Database:26279, Ensembl:ENSG00000117215, GenAtlas:PLA2G2D, GeneCard:PLA2G2D, HGNC:HGNC:9033, HumanCyc Gene:HS04103, ModBase:Q9UNK4, NCBI Gene:26279, OMIM:605630, RefSeq DNA:NT_004610, RefSeq Protein:NP_036532, RefSeq RNA:NM_012400, UCSC Genome Browser:NM_012400, UniProtKB:Q9UNK4 No chr1 20439143 20446059 20112650 20119566 +PA134889019 30814 HGNC:13414 ENSG00000188784 phospholipase A2 group IIE PLA2G2E phospholipase A2, group IIE Yes No Ensembl:ENSG00000188784, GeneCard:PLA2G2E, HGNC:HGNC:13414, HumanCyc Gene:HS08328, ModBase:Q9NZK7, NCBI Gene:30814, RefSeq DNA:NT_004610, RefSeq Protein:NP_055404, RefSeq RNA:NM_014589, UniProtKB:Q9NZK7 No chr1 20246800 20250110 19920307 19923617 +PA134931043 64600 HGNC:30040 ENSG00000158786 phospholipase A2 group IIF PLA2G2F phospholipase A2, group IIF Yes No Ensembl:ENSG00000158786, GeneCard:PLA2G2F, HGNC:HGNC:30040, HumanCyc Gene:HS08329, ModBase:Q9BZM2, NCBI Gene:64600, RefSeq DNA:NT_004610, RefSeq Protein:NP_073730, RefSeq RNA:NM_022819, UniProtKB:Q9BZM2 No chr1 20465823 20476879 20139326 20150386 +PA38267 50487 HGNC:17934 ENSG00000100078 phospholipase A2 group III PLA2G3 phospholipase A2, group III GIII-SPLA2 Yes No Ensembl:ENSG00000100078, GenAtlas:PLA2G3, GeneCard:PLA2G3, HGNC:HGNC:17934, HumanCyc Gene:HS01970, ModBase:Q9NZ20, NCBI Gene:50487, OMIM:611651, RefSeq DNA:NT_011520, RefSeq Protein:NP_056530, RefSeq RNA:NM_015715, UCSC Genome Browser:NM_015715, UniProtKB:Q9NZ20 No chr22 31530793 31536469 31134807 31140607 +PA271 5321 HGNC:9035 ENSG00000116711 phospholipase A2 group IVA PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) PLA2G4, cPLA2-alpha Yes Yes Comparative Toxicogenomics Database:5321, Ensembl:ENSG00000116711, GenAtlas:PLA2G4A, GeneCard:PLA2G4A, HGNC:HGNC:9035, HumanCyc Gene:HS04039, ModBase:P47712, NCBI Gene:5321, OMIM:600522, RefSeq DNA:NG_012203, RefSeq DNA:NT_004487, RefSeq Protein:NP_077734, RefSeq RNA:NM_024420, UCSC Genome Browser:NM_024420, UniProtKB:P47712 No chr1 186798032 186958113 186828900 186989896 +PA33364 100137049 HGNC:9036 ENSG00000243708 phospholipase A2 group IVB PLA2G4B phospholipase A2, group IVB (cytosolic) HsT16992, cPLA2-beta Yes No Ensembl:ENSG00000243708, GenAtlas:PLA2G4B, GeneCard:PLA2G4B, HGNC:HGNC:9036, ModBase:O95712, NCBI Gene:100137049, OMIM:606088, RefSeq DNA:NT_010194, RefSeq Protein:NP_001108105, RefSeq RNA:NM_001114633, UCSC Genome Browser:NM_005090 No chr15 42131011 42140346 41838813 41848148 +PA33365 8605 HGNC:9037 ENSG00000105499 phospholipase A2 group IVC PLA2G4C phospholipase A2, group IVC (cytosolic, calcium-independent) cPLA2-gamma Yes No Comparative Toxicogenomics Database:8605, Ensembl:ENSG00000105499, GenAtlas:PLA2G4C, GeneCard:PLA2G4C, HGNC:HGNC:9037, HumanCyc Gene:HS02750, ModBase:Q9UP65, NCBI Gene:8605, OMIM:603602, RefSeq DNA:NG_016021, RefSeq DNA:NT_011109, RefSeq Protein:NP_001152794, RefSeq Protein:NP_001152795, RefSeq Protein:NP_003697, RefSeq RNA:NM_001159322, RefSeq RNA:NM_001159323, RefSeq RNA:NM_003706, UCSC Genome Browser:NM_003706, UniProtKB:B4DI40, UniProtKB:Q9UP65 No chr19 48551100 48614109 48047843 48111445 +PA134974074 283748 HGNC:30038 ENSG00000159337 phospholipase A2 group IVD PLA2G4D phospholipase A2, group IVD (cytosolic) cPLA2delta Yes No Ensembl:ENSG00000159337, GeneCard:PLA2G4D, HGNC:HGNC:30038, ModBase:Q86XP0, NCBI Gene:283748, OMIM:612864, RefSeq DNA:NT_010194, RefSeq Protein:NP_828848, RefSeq RNA:NM_178034, UniProtKB:Q86XP0 No chr15 42359881 42386752 42067562 42094559 +PA142671169 123745 HGNC:24791 ENSG00000188089 phospholipase A2 group IVE PLA2G4E phospholipase A2, group IVE FLJ45651 Yes No Ensembl:ENSG00000188089, GeneCard:PLA2G4E, HGNC:HGNC:24791, ModBase:Q3MJ16, NCBI Gene:123745, RefSeq DNA:NT_010194, RefSeq Protein:NP_001073959, RefSeq Protein:NP_001193599, RefSeq RNA:NM_001080490, RefSeq RNA:NM_001206670, UniProtKB:C9JK77 No chr15 42273780 42342901 41981582 42050703 +PA142671170 255189 HGNC:27396 ENSG00000168907 phospholipase A2 group IVF PLA2G4F phospholipase A2, group IVF PLA2G4F/Z Yes No Ensembl:ENSG00000168907, GeneCard:PLA2G4F, HGNC:HGNC:27396, ModBase:Q68DD2, NCBI Gene:255189, RefSeq DNA:NT_010194, RefSeq Protein:NP_998765, RefSeq RNA:NM_213600, RefSeq RNA:NR_033151, UniProtKB:A5PKZ7, UniProtKB:Q68DD2 No chr15 42433332 42448839 42141134 42156641 +PA33366 5322 HGNC:9038 ENSG00000127472 phospholipase A2 group V PLA2G5 phospholipase A2, group V Yes No Comparative Toxicogenomics Database:5322, Ensembl:ENSG00000127472, GenAtlas:PLA2G5, GeneCard:PLA2G5, HGNC:HGNC:9038, HumanCyc Gene:HS05100, ModBase:P39877, NCBI Gene:5322, OMIM:601192, RefSeq DNA:NT_004610, RefSeq Protein:NP_000920, RefSeq RNA:NM_000929, UCSC Genome Browser:NM_000929, UniProtKB:P39877 No chr1 20386157 20418394 20028350 20091901 +PA33367 8398 HGNC:9039 ENSG00000184381 phospholipase A2 group VI PLA2G6 """neurodegeneration with brain iron accumulation 2"", ""phospholipase A2, group VI (cytosolic, calcium-independent)""" NBIA2, PARK14, PNPLA9, iPLA2, iPLA2beta Yes No Comparative Toxicogenomics Database:8398, Ensembl:ENSG00000184381, GenAtlas:PLA2G6, GeneCard:PLA2G6, HGNC:HGNC:9039, HumanCyc Gene:HS00055, ModBase:O60733, NCBI Gene:8398, OMIM:256600, OMIM:603604, OMIM:610217, OMIM:612953, RefSeq DNA:NG_007094, RefSeq DNA:NT_011520, RefSeq Protein:NP_001004426, RefSeq Protein:NP_001186491, RefSeq Protein:NP_003551, RefSeq RNA:NM_001004426, RefSeq RNA:NM_001199562, RefSeq RNA:NM_003560, UCSC Genome Browser:NM_003560, UniProtKB:O60733 No chr22 38507502 38577857 38111495 38192099 +PA33368 7941 HGNC:9040 ENSG00000146070 phospholipase A2 group VII PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) LDL-PLA2, Lp-PLA2, PAFAH Yes No Comparative Toxicogenomics Database:7941, Ensembl:ENSG00000146070, GenAtlas:PLA2G7, GeneCard:PLA2G7, HGNC:HGNC:9040, HumanCyc Gene:HS07320, ModBase:Q13093, NCBI Gene:7941, OMIM:147050, OMIM:600807, OMIM:601690, RefSeq DNA:NG_016204, RefSeq DNA:NT_007592, RefSeq Protein:NP_001161829, RefSeq Protein:NP_005075, RefSeq RNA:NM_001168357, RefSeq RNA:NM_005084, UCSC Genome Browser:NM_005084, UniProtKB:Q13093 No chr6 46672053 46703430 46700954 46735836 +PA33369 22925 HGNC:9042 ENSG00000153246 phospholipase A2 receptor 1 PLA2R1 phospholipase A2 receptor 1, 180kDa CLEC13C, PLA2-R, PLA2G1R, PLA2IR Yes No Comparative Toxicogenomics Database:22925, Ensembl:ENSG00000153246, GenAtlas:PLA2R1, GeneCard:PLA2R1, HGNC:HGNC:9042, HumanCyc Gene:HS07896, ModBase:Q13018, NCBI Gene:22925, OMIM:604939, RefSeq DNA:NT_005403, RefSeq Protein:NP_001007268, RefSeq Protein:NP_001182570, RefSeq Protein:NP_031392, RefSeq RNA:NM_001007267, RefSeq RNA:NM_001195641, RefSeq RNA:NM_007366, UCSC Genome Browser:NM_007366, UniProtKB:Q13018 No chr2 160788523 160919126 159928384 160062902 +PA33370 9373 HGNC:9043 ENSG00000137055 phospholipase A2 activating protein PLAA DOA1 homolog (S. cerevisiae), phospholipase A2-activating protein DOA1, FLJ11281, FLJ12699, PLA2P, PLAP Yes No Comparative Toxicogenomics Database:9373, Ensembl:ENSG00000137055, GenAtlas:PLAA, GeneCard:PLAA, HGNC:HGNC:9043, HumanCyc Gene:HS06262, ModBase:Q9Y263, NCBI Gene:9373, OMIM:603873, RefSeq DNA:NT_008413, RefSeq Protein:NP_001026859, RefSeq RNA:NM_001031689, UCSC Genome Browser:NM_004253, UniProtKB:Q9Y263 No chr9 26903368 26947468 26903370 26947473 +PA29445 57110 HGNC:14922 ENSG00000127252 phospholipase A and acyltransferase 1 PLAAT1 HRAS like suppressor, HRAS-like suppressor, phospholipase A/acyltransferase 1 A-C1, H-REV107, HRASLS, HRASLS1, PLA/AT1, PLAAT-1 Yes No Comparative Toxicogenomics Database:57110, Ensembl:ENSG00000127252, GenAtlas:HRASLS, GeneCard:HRASLS, HGNC:HGNC:14922, HumanCyc Gene:HS13232, ModBase:Q9HDD0, NCBI Gene:57110, OMIM:606487, RefSeq DNA:NT_005612, RefSeq Protein:NP_065119, RefSeq RNA:NM_020386, UCSC Genome Browser:NM_020386, UniProtKB:D2KX19, UniProtKB:Q6X7C0, UniProtKB:Q86WS9, UniProtKB:Q9HDD0 No chr3 192948030 193025102 193241128 193281639 +PA166352051 54979 HGNC:17824 phospholipase A and acyltransferase 2 PLAAT2 phospholipase A/acyltransferase‐2, phospholipase A/acyltransferase‐2 FLJ20556, HRASLS2, PLAAT-2 Yes No HGNC:HGNC:17824, NCBI Gene:54979 No 0 0 0 0 +PA166352052 11145 HGNC:17825 phospholipase A and acyltransferase 3 PLAAT3 adipose-specific PLA2, phospholipase A/acyltransferase‐3, phospholipase A/acyltransferase‐3 AdPLA, H-REV107-1, HRASLS3, HREV107, HREV107-3, MGC118754., PLA2G16, PLAAT-3 Yes No HGNC:HGNC:17825, NCBI Gene:11145 No 0 0 0 0 +PA166352053 5920 HGNC:9869 phospholipase A and acyltransferase 4 PLAAT4 Retinoid-inducible gene 1, phospholipase A/acyltransferase‐4, phospholipase A/acyltransferase‐4 HRASLS4, PLAAT-4, RARRES3, RIG1, TIG3 Yes No HGNC:HGNC:9869, NCBI Gene:5920 No 0 0 0 0 +PA166352054 117245 HGNC:24978 phospholipase A and acyltransferase 5 PLAAT5 Ca(2+)-independent N-acyltransferase, H-rev107-like protein 5, phospholipase A/acyltransferase‐5, phospholipase A/acyltransferase‐5 HRASLS5, HRLP5, PLAAT-5, iNAT Yes No HGNC:HGNC:24978, NCBI Gene:117245 No 0 0 0 0 +PA33371 10761 HGNC:9044 ENSG00000170965 placenta enriched 1 PLAC1 cancer/testis antigen 92, placenta specific 1, placenta-specific 1 CT92, OOSP2B, OOSP2L Yes No Comparative Toxicogenomics Database:10761, Ensembl:ENSG00000170965, GenAtlas:PLAC1, GeneCard:PLAC1, HGNC:HGNC:9044, HumanCyc Gene:HS10222, NCBI Gene:10761, OMIM:300296, RefSeq DNA:NT_011786, RefSeq Protein:NP_068568, RefSeq RNA:NM_021796, UCSC Genome Browser:NM_021796, UniProtKB:Q9HBJ0 No chrX 133699873 133792513 134565838 134764322 +PA33374 191585 HGNC:14616 ENSG00000280109 placenta-specific 4 PLAC4 C21orf115, MGC126664, MGC126666, PRED78 Yes No Ensembl:ENSG00000280109, GenAtlas:PLAC4, GeneCard:PLAC4, HGNC:HGNC:14616, ModBase:Q8WY50, NCBI Gene:191585, RefSeq DNA:NT_011512, RefSeq Protein:NP_878252, RefSeq RNA:NM_182832, UCSC Genome Browser:NM_182832, UniProtKB:Q8WY50 No chr21 42547158 42557166 41175231 41185239 +PA134950814 51316 HGNC:19254 ENSG00000145287 placenta associated 8 PLAC8 placenta specific 8, placenta-specific 8 C15, onzin Yes No Comparative Toxicogenomics Database:51316, Ensembl:ENSG00000145287, GeneCard:PLAC8, HGNC:HGNC:19254, HumanCyc Gene:HS14081, NCBI Gene:51316, OMIM:607515, RefSeq DNA:NT_016354, RefSeq Protein:NP_001124187, RefSeq Protein:NP_001124188, RefSeq Protein:NP_057703, RefSeq RNA:NM_001130715, RefSeq RNA:NM_001130716, RefSeq RNA:NM_016619, UniProtKB:Q9NZF1 No chr4 84011201 84035911 83090048 83114758 +PA134890176 153770 HGNC:31746 ENSG00000173261 PLAC8 like 1 PLAC8L1 PLAC8-like 1 Yes No Ensembl:ENSG00000173261, GeneCard:PLAC8L1, HGNC:HGNC:31746, NCBI Gene:153770, RefSeq DNA:NT_029289, RefSeq Protein:NP_001025040, RefSeq RNA:NM_001029869, UniProtKB:A1L4L8 No chr5 145463876 145483946 146084149 146104383 +PA134941839 219348 HGNC:19255 ENSG00000189129 placenta associated 9 PLAC9 placenta specific 9, placenta-specific 9 Yes No Comparative Toxicogenomics Database:219348, Ensembl:ENSG00000189129, GeneCard:PLAC9, HGNC:HGNC:19255, NCBI Gene:219348, OMIM:612857, RefSeq DNA:NT_030059, RefSeq Protein:NP_001012991, RefSeq RNA:NM_001012973, UniProtKB:Q5JTB6 No chr10 81892258 81904784 80132502 80145028 +PA33378 5324 HGNC:9045 ENSG00000181690 PLAG1 zinc finger PLAG1 pleiomorphic adenoma gene 1 ZNF912 Yes No Comparative Toxicogenomics Database:5324, Ensembl:ENSG00000181690, GenAtlas:PLAG1, GeneCard:PLAG1, HGNC:HGNC:9045, HumanCyc Gene:HS11646, ModBase:Q6DJT9, NCBI Gene:5324, OMIM:181030, OMIM:603026, RefSeq DNA:NG_023310, RefSeq DNA:NT_008183, RefSeq Protein:NP_001108106, RefSeq Protein:NP_001108107, RefSeq Protein:NP_002646, RefSeq RNA:NM_001114634, RefSeq RNA:NM_001114635, RefSeq RNA:NM_002655, UCSC Genome Browser:NM_002655, UniProtKB:B4DLC2, UniProtKB:Q6DJT9 No chr8 57073463 57123859 56160909 56211327 +PA33379 5325 HGNC:9046 ENSG00000118495 PLAG1 like zinc finger 1 PLAGL1 pleiomorphic adenoma gene-like 1 LOT1, ZAC Yes Yes Comparative Toxicogenomics Database:5325, Ensembl:ENSG00000118495, GenAtlas:PLAGL1, GeneCard:PLAGL1, HGNC:HGNC:9046, HumanCyc Gene:HS04222, ModBase:Q9UM63, NCBI Gene:5325, OMIM:601410, OMIM:603044, RefSeq DNA:NG_009384, RefSeq DNA:NT_025741, RefSeq Protein:NP_001074420, RefSeq Protein:NP_001074421, RefSeq Protein:NP_001074422, RefSeq Protein:NP_001074423, RefSeq Protein:NP_001074424, RefSeq Protein:NP_001074425, RefSeq Protein:NP_002647, RefSeq Protein:NP_006709, RefSeq RNA:NM_001080951, RefSeq RNA:NM_001080952, RefSeq RNA:NM_001080953, RefSeq RNA:NM_001080954, RefSeq RNA:NM_001080955, RefSeq RNA:NM_001080956, RefSeq RNA:NM_002656, RefSeq RNA:NM_006718, UCSC Genome Browser:NM_002656, UniProtKB:A1YLA1, UniProtKB:Q9UM63 No chr6 144261437 144385736 143940300 144064599 +PA33380 5326 HGNC:9047 ENSG00000126003 PLAG1 like zinc finger 2 PLAGL2 C2H2-type zinc finger protein, pleiomorphic adenoma gene-like 2 ZNF900 Yes No Comparative Toxicogenomics Database:5326, Ensembl:ENSG00000126003, GenAtlas:PLAGL2, GeneCard:PLAGL2, HGNC:HGNC:9047, HumanCyc Gene:HS04987, ModBase:Q9UPG8, NCBI Gene:5326, OMIM:604866, RefSeq DNA:NT_011362, RefSeq Protein:NP_002648, RefSeq RNA:NM_002657, UCSC Genome Browser:NM_002657, UniProtKB:Q9UPG8 No chr20 30780307 30795546 32192504 32207743 +PA33381 5327 HGNC:9051 ENSG00000104368 plasminogen activator, tissue type PLAT plasminogen activator, tissue Yes No Comparative Toxicogenomics Database:5327, Ensembl:ENSG00000104368, GenAtlas:PLAT, GeneCard:PLAT, HGNC:HGNC:9051, HumanCyc Gene:HS02572, ModBase:Q9BZW1, NCBI Gene:5327, OMIM:173370, OMIM:612348, RefSeq DNA:NG_023264, RefSeq DNA:NT_167187, RefSeq Protein:NP_000921, RefSeq Protein:NP_127509, RefSeq RNA:NM_000930, RefSeq RNA:NM_033011, UCSC Genome Browser:NM_000930, UniProtKB:P00750 No chr8 42032236 42065242 42174718 42207724 +PA33382 5328 HGNC:9052 ENSG00000122861 plasminogen activator, urokinase PLAU UPA, URK Yes No Comparative Toxicogenomics Database:5328, Ensembl:ENSG00000122861, GenAtlas:PLAU, GeneCard:PLAU, HGNC:HGNC:9052, HumanCyc Gene:HS04608, ModBase:P00749, NCBI Gene:5328, OMIM:104300, OMIM:191840, RefSeq DNA:NG_011904, RefSeq DNA:NT_030059, RefSeq Protein:NP_001138503, RefSeq Protein:NP_002649, RefSeq RNA:NM_001145031, RefSeq RNA:NM_002658, UCSC Genome Browser:NM_002658, UniProtKB:P00749, UniProtKB:Q59GZ8 No chr10 75670862 75677259 73909182 73917501 +PA33383 5329 HGNC:9053 ENSG00000011422 plasminogen activator, urokinase receptor PLAUR urokinase plasminogen activator surface receptor, urokinase-type plasminogen activator (uPA) receptor CD87, UPAR, URKR Yes No Comparative Toxicogenomics Database:5329, Ensembl:ENSG00000011422, GenAtlas:PLAUR, GeneCard:PLAUR, HGNC:HGNC:9053, HumanCyc Gene:HS00316, ModBase:Q9UEA6, NCBI Gene:5329, OMIM:173391, RefSeq DNA:NT_011109, RefSeq Protein:NP_001005376, RefSeq Protein:NP_001005377, RefSeq Protein:NP_002650, RefSeq RNA:NM_001005376, RefSeq RNA:NM_001005377, RefSeq RNA:NM_002659, UCSC Genome Browser:NM_002659, UniProtKB:Q03405 No chr19 44150247 44174498 43646095 43670346 +PA134891309 151056 HGNC:30041 ENSG00000163803 phospholipase B1 PLB1 FLJ30866, PLB Yes No Ensembl:ENSG00000163803, GeneCard:PLB1, HGNC:HGNC:30041, HumanCyc Gene:HS08939, ModBase:Q6P1J6, NCBI Gene:151056, OMIM:610179, RefSeq DNA:NT_022184, RefSeq Protein:NP_001164056, RefSeq Protein:NP_694566, RefSeq RNA:NM_001170585, RefSeq RNA:NM_153021, UniProtKB:B2RWP8, UniProtKB:Q6P1J6 No chr2 28718938 28866654 28488579 28644135 +PA164724597 79887 HGNC:26215 ENSG00000121316 phospholipase B domain containing 1 PLBD1 PLB homolog 1 (Dictyostelium) FLJ22662 Yes No Ensembl:ENSG00000121316, GeneCard:PLBD1, HGNC:HGNC:26215, HumanCyc Gene:HS13017, NCBI Gene:79887, RefSeq DNA:NT_009714, RefSeq Protein:NP_079105, RefSeq RNA:NM_024829, UniProtKB:Q6P4A8 No chr12 14656597 14720791 14503663 14567857 +PA164724624 196463 HGNC:27283 ENSG00000151176 phospholipase B domain containing 2 PLBD2 PLB homolog 2 (Dictyostelium), mannose-6-phosphate protein associated protein p76 p76 Yes No Ensembl:ENSG00000151176, GeneCard:PLBD2, HGNC:HGNC:27283, HumanCyc Gene:HS14357, NCBI Gene:196463, RefSeq DNA:NT_009775, RefSeq Protein:NP_001153199, RefSeq Protein:NP_775813, RefSeq RNA:NM_001159727, RefSeq RNA:NM_173542, UniProtKB:Q8NHP8 No chr12 113796371 113827458 113358566 113391582 +PA33384 23236 HGNC:15917 ENSG00000182621 phospholipase C beta 1 PLCB1 """phosphoinositide phospholipase C"", ""phospholipase C, beta 1 (phosphoinositide-specific)""" KIAA0581, PLC-I, PLC154 Yes Yes Comparative Toxicogenomics Database:23236, Ensembl:ENSG00000182621, GenAtlas:PLCB1, GeneCard:PLCB1, HGNC:HGNC:15917, HumanCyc Gene:HS11935, ModBase:Q9NQ65, NCBI Gene:23236, OMIM:607120, RefSeq DNA:NT_011387, RefSeq Protein:NP_056007, RefSeq Protein:NP_877398, RefSeq RNA:NM_015192, RefSeq RNA:NM_182734, UCSC Genome Browser:NM_015192, UniProtKB:Q9NQ66 No chr20 8112912 8865547 8132236 8884911 +PA33385 5330 HGNC:9055 ENSG00000137841 phospholipase C beta 2 PLCB2 phospholipase C, beta 2 FLJ38135 Yes No Comparative Toxicogenomics Database:5330, Ensembl:ENSG00000137841, GenAtlas:PLCB2, GeneCard:PLCB2, HGNC:HGNC:9055, HumanCyc Gene:HS06408, ModBase:Q00722, NCBI Gene:5330, OMIM:604114, RefSeq DNA:NT_010194, RefSeq Protein:NP_004564, RefSeq RNA:NM_004573, UCSC Genome Browser:NM_004573, UniProtKB:Q00722, UniProtKB:Q59F77 No chr15 40576461 40600174 40285496 40307973 +PA33386 5331 HGNC:9056 ENSG00000149782 phospholipase C beta 3 PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific) Yes No Comparative Toxicogenomics Database:5331, Ensembl:ENSG00000149782, GenAtlas:PLCB3, GeneCard:PLCB3, HGNC:HGNC:9056, HumanCyc Gene:HS07640, ModBase:Q01970, NCBI Gene:5331, OMIM:600230, RefSeq DNA:NT_167190, RefSeq Protein:NP_000923, RefSeq Protein:NP_001171812, RefSeq RNA:NM_000932, RefSeq RNA:NM_001184883, UCSC Genome Browser:NM_000932, UniProtKB:Q01970 No chr11 64018995 64036924 64251523 64269452 +PA33387 5332 HGNC:9059 ENSG00000101333 phospholipase C beta 4 PLCB4 phospholipase C, beta 4 Yes No Comparative Toxicogenomics Database:5332, Ensembl:ENSG00000101333, GenAtlas:PLCB4, GeneCard:PLCB4, HGNC:HGNC:9059, HumanCyc Gene:HS02244, ModBase:Q9UJQ2, NCBI Gene:5332, OMIM:600810, RefSeq DNA:NT_011387, RefSeq Protein:NP_000924, RefSeq Protein:NP_001166117, RefSeq Protein:NP_877949, RefSeq RNA:NM_000933, RefSeq RNA:NM_001172646, RefSeq RNA:NM_182797, UCSC Genome Browser:NM_000933, UniProtKB:Q15147 No chr20 9049357 9461463 9068710 9480816 +PA33388 5333 HGNC:9060 ENSG00000187091 phospholipase C delta 1 PLCD1 """1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1"", ""Phospholipase C d1"", ""Phospholipase C δ1"", ""Phospholipase C δ1"", ""phospholipase C, delta 1""" Yes No Comparative Toxicogenomics Database:5333, Ensembl:ENSG00000187091, GenAtlas:PLCD1, GeneCard:PLCD1, HGNC:HGNC:9060, HumanCyc Gene:HS07195, ModBase:P51178, NCBI Gene:5333, OMIM:602142, RefSeq DNA:NT_022517, RefSeq Protein:NP_001124436, RefSeq Protein:NP_006216, RefSeq RNA:NM_001130964, RefSeq RNA:NM_006225, RefSeq RNA:NR_024071, UCSC Genome Browser:NM_006225, UniProtKB:A8K8F9, UniProtKB:P51178 No chr3 38048987 38071154 38007496 38029663 +PA33389 113026 HGNC:9061 ENSG00000161714 phospholipase C delta 3 PLCD3 phospholipase C, delta 3 Yes Yes Comparative Toxicogenomics Database:113026, Ensembl:ENSG00000161714, GenAtlas:PLCD3, GeneCard:PLCD3, HGNC:HGNC:9061, HumanCyc Gene:HS08609, ModBase:Q8N3E9, NCBI Gene:113026, OMIM:608795, RefSeq DNA:NT_010783, RefSeq Protein:NP_588614, RefSeq RNA:NM_133373, UCSC Genome Browser:NM_133373, UniProtKB:Q8N3E9 No chr17 43189008 43209891 45111640 45132533 +PA33390 84812 HGNC:9062 ENSG00000115556 phospholipase C delta 4 PLCD4 phospholipase C, delta 4 Yes No Comparative Toxicogenomics Database:84812, Ensembl:ENSG00000115556, GenAtlas:PLCD4, GeneCard:PLCD4, HGNC:HGNC:9062, HumanCyc Gene:HS03908, ModBase:Q9BRC7, NCBI Gene:84812, OMIM:605939, RefSeq DNA:NT_005403, RefSeq Protein:NP_116115, RefSeq RNA:NM_032726, UCSC Genome Browser:NM_032726, UniProtKB:Q9BRC7 No chr2 219472488 219501909 218606873 218637186 +PA33391 51196 HGNC:17175 ENSG00000138193 phospholipase C epsilon 1 PLCE1 """nephrosis type 3"", ""phosphoinositide phospholipase C"", ""phospholipase C, epsilon 1""" KIAA1516, NPHS3, PLCE Yes Yes Comparative Toxicogenomics Database:51196, Ensembl:ENSG00000138193, GenAtlas:PLCE1, GeneCard:PLCE1, HGNC:HGNC:17175, HumanCyc Gene:HS06473, ModBase:Q9UHV3, NCBI Gene:51196, OMIM:608414, OMIM:610725, RefSeq DNA:NG_015799, RefSeq DNA:NT_030059, RefSeq Protein:NP_001159451, RefSeq Protein:NP_057425, RefSeq RNA:NM_001165979, RefSeq RNA:NM_016341, UCSC Genome Browser:NM_016341, UniProtKB:A8K1D7, UniProtKB:Q5VWL4, UniProtKB:Q9P212 No chr10 95753746 96088149 93993989 94329447 +PA33392 5335 HGNC:9065 ENSG00000124181 phospholipase C gamma 1 PLCG1 phospholipase C, gamma 1 NCKAP3, PLC-II, PLC1, PLC148, PLCgamma1 Yes Yes Comparative Toxicogenomics Database:5335, Ensembl:ENSG00000124181, GenAtlas:PLCG1, GeneCard:PLCG1, HGNC:HGNC:9065, HumanCyc Gene:HS04729, ModBase:P19174, NCBI Gene:5335, OMIM:172420, RefSeq DNA:NT_011362, RefSeq Protein:NP_002651, RefSeq Protein:NP_877963, RefSeq RNA:NM_002660, RefSeq RNA:NM_182811, UCSC Genome Browser:NM_002660, UniProtKB:A2A284, UniProtKB:P19174, UniProtKB:Q4LE43 No chr20 39766159 39804359 41137519 41175721 +PA33393 5336 HGNC:9066 ENSG00000197943 phospholipase C gamma 2 PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) Yes Yes Comparative Toxicogenomics Database:5336, Ensembl:ENSG00000197943, GenAtlas:PLCG2, GeneCard:PLCG2, HGNC:HGNC:9066, HumanCyc Gene:HS06773, ModBase:P16885, NCBI Gene:5336, OMIM:600220, RefSeq DNA:NT_010498, RefSeq Protein:NP_002652, RefSeq RNA:NM_002661, UCSC Genome Browser:NM_002661, UniProtKB:P16885 No chr16 81812899 81996290 81779258 81962693 +PA128394595 23007 HGNC:29185 ENSG00000114805 phospholipase C eta 1 PLCH1 """1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1"", ""phospholipase C, eta 1""" DKFZp434C1372, KIAA1069, MGC117152, PLCL3, PLCeta1 Yes No Ensembl:ENSG00000114805, GeneCard:PLCH1, HGNC:HGNC:29185, ModBase:Q4KWH8, NCBI Gene:23007, OMIM:612835, RefSeq DNA:NT_005612, RefSeq Protein:NP_001124432, RefSeq Protein:NP_001124433, RefSeq Protein:NP_055811, RefSeq RNA:NM_001130960, RefSeq RNA:NM_001130961, RefSeq RNA:NM_014996, UniProtKB:Q4KWH8, UniProtKB:Q9UPN4 No chr3 155197670 155462878 155458603 155745723 +PA134914471 9651 HGNC:29037 ENSG00000149527 phospholipase C eta 2 PLCH2 """1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2"", ""phospholipase C, eta 2""" KIAA0450, PLC-eta2, PLCL4, PLCeta2, RP3-395M20.1 Yes No Ensembl:ENSG00000149527, GeneCard:PLCH2, HGNC:HGNC:29037, ModBase:O75038, NCBI Gene:9651, OMIM:612836, RefSeq DNA:NT_004350, RefSeq Protein:NP_055453, RefSeq RNA:NM_014638, UniProtKB:O75038 No chr1 2407754 2436964 2412481 2505530 +PA33394 5334 HGNC:9063 ENSG00000115896 phospholipase C like 1 (inactive) PLCL1 """phospholipase C related, but catalytically inactive protein"", ""phospholipase C-like 1"", ""protein phosphatase 1, regulatory subunit 127""" PLC-L, PLCE, PLCL, PPP1R127, PRIP Yes No Comparative Toxicogenomics Database:5334, Ensembl:ENSG00000115896, GenAtlas:PLCL1, GeneCard:PLCL1, HGNC:HGNC:9063, HumanCyc Gene:HS03949, ModBase:Q15111, NCBI Gene:5334, OMIM:600597, RefSeq DNA:NT_005403, RefSeq Protein:NP_001108133, RefSeq Protein:NP_006217, RefSeq RNA:NM_001114661, RefSeq RNA:NM_006226, UCSC Genome Browser:NM_006226, UniProtKB:Q15111 No chr2 198669426 199014608 197804702 198149884 +PA33395 23228 HGNC:9064 ENSG00000154822 phospholipase C like 2 PLCL2 phospholipase C-like 2 KIAA1092, PLCE2 Yes No Ensembl:ENSG00000154822, GenAtlas:PLCL2, GeneCard:PLCL2, HGNC:HGNC:9064, HumanCyc Gene:HS08012, ModBase:Q9UPR0, NCBI Gene:23228, RefSeq DNA:NT_022517, RefSeq Protein:NP_001137854, RefSeq Protein:NP_055999, RefSeq RNA:NM_001144382, RefSeq RNA:NM_015184, UCSC Genome Browser:NM_015184, UniProtKB:Q9UPR0 No chr3 16974582 17132098 16802691 17090606 +PA134878642 55344 HGNC:23148 ENSG00000182378 phosphatidylinositol specific phospholipase C X domain containing 1 PLCXD1 phosphatidylinositol-specific phospholipase C, X domain containing 1 FLJ11323 Yes No Ensembl:ENSG00000182378, GeneCard:PLCXD1, HGNC:HGNC:23148, ModBase:Q9NUJ7, NCBI Gene:55344, RefSeq DNA:NG_016868, RefSeq DNA:NT_167192, RefSeq DNA:NT_167200, RefSeq Protein:NP_060860, RefSeq RNA:NM_018390, RefSeq RNA:NR_028057, UniProtKB:Q9NUJ7 No chrX 192991 220023 276324 303356 +PA134928848 257068 HGNC:26462 ENSG00000240891 phosphatidylinositol specific phospholipase C X domain containing 2 PLCXD2 phosphatidylinositol-specific phospholipase C, X domain containing 2 FLJ31579 Yes No Comparative Toxicogenomics Database:257068, Ensembl:ENSG00000240891, GeneCard:PLCXD2, HGNC:HGNC:26462, NCBI Gene:257068, RefSeq DNA:NT_005612, RefSeq Protein:NP_001127950, RefSeq Protein:NP_001172035, RefSeq Protein:NP_695000, RefSeq RNA:NM_001134478, RefSeq RNA:NM_001185106, RefSeq RNA:NM_153268, UniProtKB:Q0VAA5 No chr3 111393523 111565294 111674676 111846447 +PA134886053 345557 HGNC:31822 ENSG00000182836 phosphatidylinositol specific phospholipase C X domain containing 3 PLCXD3 phosphatidylinositol-specific phospholipase C, X domain containing 3 Yes No Ensembl:ENSG00000182836, GeneCard:PLCXD3, HGNC:HGNC:31822, ModBase:Q63HM9, NCBI Gene:345557, RefSeq DNA:NT_006576, RefSeq Protein:NP_001005473, RefSeq RNA:NM_001005473, UniProtKB:B3KXD1, UniProtKB:Q63HM9 No chr5 41307048 41510730 41306946 41510628 +PA134875646 89869 HGNC:19218 ENSG00000139151 phospholipase C zeta 1 PLCZ1 phospholipase C, zeta 1 NYD-SP27, PLCzeta Yes No Comparative Toxicogenomics Database:89869, Ensembl:ENSG00000139151, GeneCard:PLCZ1, HGNC:HGNC:19218, HumanCyc Gene:HS06584, ModBase:Q86YW0, NCBI Gene:89869, OMIM:608075, RefSeq DNA:NT_009714, RefSeq Protein:NP_149114, RefSeq RNA:NM_033123, UniProtKB:Q86YW0 No chr12 18836110 18891020 18645529 18738059 +PA164742228 5337 HGNC:9067 ENSG00000075651 phospholipase D1 PLD1 """choline phosphatase 1"", ""phospholipase D1, phosphatidylcholine-specific""" Yes No Ensembl:ENSG00000075651, GeneCard:PLD1, HGNC:HGNC:9067, HumanCyc Gene:HS01185, ModBase:Q13393, NCBI Gene:5337, OMIM:602382, RefSeq DNA:NT_005612, RefSeq Protein:NP_001123553, RefSeq Protein:NP_002653, RefSeq RNA:NM_001130081, RefSeq RNA:NM_002662, UniProtKB:Q13393, UniProtKB:Q59EA4 No chr3 171318195 171528284 171600404 171810494 +PA33397 5338 HGNC:9068 ENSG00000129219 phospholipase D2 PLD2 choline phosphatase 2 Yes No Ensembl:ENSG00000129219, GenAtlas:PLD2, GeneCard:PLD2, HGNC:HGNC:9068, HumanCyc Gene:HS05256, ModBase:O14939, NCBI Gene:5338, OMIM:602384, RefSeq DNA:NT_010718, RefSeq Protein:NP_002654, RefSeq RNA:NM_002663, UCSC Genome Browser:NM_002663, UniProtKB:O14939 No chr17 4710396 4726727 4807101 4823432 +PA134887482 23646 HGNC:17158 ENSG00000105223 phospholipase D family member 3 PLD3 phospholipase D family, member 3 HU-K4 Yes No Comparative Toxicogenomics Database:23646, Ensembl:ENSG00000105223, GeneCard:PLD3, HGNC:HGNC:17158, HumanCyc Gene:HS02695, ModBase:Q8IV08, NCBI Gene:23646, RefSeq DNA:NT_011109, RefSeq Protein:NP_001026866, RefSeq Protein:NP_036400, RefSeq RNA:NM_001031696, RefSeq RNA:NM_012268, UniProtKB:Q8IV08 No chr19 40854302 40884392 40348395 40378490 +PA134861676 122618 HGNC:23792 ENSG00000166428 phospholipase D family member 4 PLD4 phospholipase D family, member 4 C14orf175 Yes No Ensembl:ENSG00000166428, GeneCard:PLD4, HGNC:HGNC:23792, HumanCyc Gene:HS09396, ModBase:Q96BZ4, NCBI Gene:122618, RefSeq DNA:NT_026437, RefSeq Protein:NP_620145, RefSeq RNA:NM_138790, UniProtKB:Q96BZ4 No chr14 105391153 105399573 104924806 104937789 +PA142671168 200150 HGNC:26879 ENSG00000180287 phospholipase D family member 5 PLD5 phospholipase D family, member 5 FLJ40773 Yes No Ensembl:ENSG00000180287, GeneCard:PLD5, HGNC:HGNC:26879, HumanCyc Gene:HS11480, NCBI Gene:200150, RefSeq DNA:NT_167186, RefSeq Protein:NP_001182740, RefSeq Protein:NP_001182741, RefSeq Protein:NP_689879, RefSeq RNA:NM_001195811, RefSeq RNA:NM_001195812, RefSeq RNA:NM_152666, UniProtKB:Q8N7P1 No chr1 242251689 242687998 242085051 242530546 +PA164724625 201164 HGNC:30447 ENSG00000179598 phospholipase D family member 6 PLD6 """Zucchini endoribonuclease"", ""phospholipase D family, member 6""" Zuc Yes No Ensembl:ENSG00000179598, GeneCard:PLD6, HGNC:HGNC:30447, ModBase:Q8N2A8, NCBI Gene:201164, RefSeq DNA:NT_010718, RefSeq Protein:NP_849158, RefSeq RNA:NM_178836, UniProtKB:Q8N2A8 No chr17 17104309 17109646 17200990 17206332 +PA33399 5339 HGNC:9069 ENSG00000178209 plectin PLEC EBS1, PCN, PLEC1, PLTN Yes No Comparative Toxicogenomics Database:5339, Ensembl:ENSG00000178209, GenAtlas:PLEC1, GeneCard:PLEC, GeneCard:PLEC1, HGNC:HGNC:9069, HumanCyc Gene:HS11263, ModBase:Q15149, NCBI Gene:5339, OMIM:131950, OMIM:226670, OMIM:601282, OMIM:612138, RefSeq DNA:NG_012492, RefSeq DNA:NT_008046, RefSeq DNA:NT_023684, RefSeq Protein:NP_000436, RefSeq Protein:NP_958780, RefSeq Protein:NP_958781, RefSeq Protein:NP_958782, RefSeq Protein:NP_958783, RefSeq Protein:NP_958784, RefSeq Protein:NP_958785, RefSeq Protein:NP_958786, RefSeq RNA:NM_000445, RefSeq RNA:NM_201378, RefSeq RNA:NM_201379, RefSeq RNA:NM_201380, RefSeq RNA:NM_201381, RefSeq RNA:NM_201382, RefSeq RNA:NM_201383, RefSeq RNA:NM_201384, UCSC Genome Browser:NM_000445, UniProtKB:Q15149 No chr8 144989321 145050913 143915147 143976800 +PA33400 5341 HGNC:9070 ENSG00000115956 pleckstrin PLEK P47, PLEK1 Yes No Comparative Toxicogenomics Database:5341, Ensembl:ENSG00000115956, GenAtlas:PLEK, GeneCard:PLEK, HGNC:HGNC:9070, HumanCyc Gene:HS03959, ModBase:P08567, NCBI Gene:5341, OMIM:173570, RefSeq DNA:NT_022184, RefSeq Protein:NP_002655, RefSeq RNA:NM_002664, UCSC Genome Browser:NM_002664, UniProtKB:P08567 No chr2 68592322 68624585 68365190 68397453 +PA134963543 26499 HGNC:19238 ENSG00000100558 pleckstrin 2 PLEK2 Yes No Comparative Toxicogenomics Database:26499, Ensembl:ENSG00000100558, GeneCard:PLEK2, HGNC:HGNC:19238, HumanCyc Gene:HS02108, ModBase:Q9NYT0, NCBI Gene:26499, OMIM:608007, RefSeq DNA:NT_026437, RefSeq Protein:NP_057529, RefSeq RNA:NM_016445, UniProtKB:Q9NYT0 No chr14 67853700 67878828 67386979 67412200 +PA33401 59338 HGNC:14335 ENSG00000107679 pleckstrin homology domain containing A1 PLEKHA1 """pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1"", ""tandem PH domain containing protein-1""" TAPP1 Yes No Comparative Toxicogenomics Database:59338, Ensembl:ENSG00000107679, GenAtlas:PLEKHA1, GeneCard:PLEKHA1, HGNC:HGNC:14335, HumanCyc Gene:HS12657, ModBase:Q9HB21, NCBI Gene:59338, OMIM:603075, OMIM:607772, RefSeq DNA:NT_030059, RefSeq Protein:NP_001001974, RefSeq Protein:NP_001182537, RefSeq Protein:NP_067635, RefSeq RNA:NM_001001974, RefSeq RNA:NM_001195608, RefSeq RNA:NM_021622, UCSC Genome Browser:NM_021622, UniProtKB:B3KQL5, UniProtKB:Q9HB21 No chr10 124134094 124191871 122374578 122432355 +PA33402 59339 HGNC:14336 ENSG00000169499 pleckstrin homology domain containing A2 PLEKHA2 """pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2"", ""tandem PH Domain containing protein-2""" TAPP2 Yes No Comparative Toxicogenomics Database:59339, Ensembl:ENSG00000169499, GenAtlas:PLEKHA2, GeneCard:PLEKHA2, HGNC:HGNC:14336, HumanCyc Gene:HS09959, NCBI Gene:59339, OMIM:607773, RefSeq DNA:NT_167187, RefSeq Protein:NP_067636, RefSeq RNA:NM_021623, UniProtKB:A8K727, UniProtKB:Q9HB19 No chr8 38758753 38831431 38901235 38973912 +PA33403 65977 HGNC:14338 ENSG00000116095 pleckstrin homology domain containing A3 PLEKHA3 """four-phosphate-adaptor protein 1"", ""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3""" FAPP1 Yes No Ensembl:ENSG00000116095, GenAtlas:PLEKHA3, GeneCard:PLEKHA3, HGNC:HGNC:14338, HumanCyc Gene:HS03978, ModBase:Q9HB20, NCBI Gene:65977, OMIM:607774, RefSeq DNA:NT_005403, RefSeq Protein:NP_061964, RefSeq RNA:NM_019091, UCSC Genome Browser:NM_019091, UniProtKB:Q9HB20 No chr2 179345199 179369783 178480410 178516324 +PA134955013 91405 HGNC:19648 ENSG00000269800 pleckstrin homology domain containing, family A member 3 pseudogene 1 PLEKHA3P1 PLEKHA3P Yes No Ensembl:ENSG00000269800, GeneCard:PLEKHA3P1, HGNC:HGNC:19648, NCBI Gene:91405, RefSeq DNA:NG_000949, RefSeq DNA:NT_011109 No chr19 42026396 42028113 41520234 41521953 +PA33404 57664 HGNC:14339 ENSG00000105559 pleckstrin homology domain containing A4 PLEKHA4 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 PEPP1 Yes No Ensembl:ENSG00000105559, GenAtlas:PLEKHA4, GeneCard:PLEKHA4, HGNC:HGNC:14339, HumanCyc Gene:HS12595, ModBase:Q9H4M7, NCBI Gene:57664, OMIM:607769, RefSeq DNA:NT_011109, RefSeq Protein:NP_001154826, RefSeq Protein:NP_065955, RefSeq RNA:NM_001161354, RefSeq RNA:NM_020904, UCSC Genome Browser:NM_020904, UniProtKB:Q9H4M7 No chr19 49340349 49371884 48837092 48868627 +PA134949896 54477 HGNC:30036 ENSG00000052126 pleckstrin homology domain containing A5 PLEKHA5 pleckstrin homology domain containing, family A member 5 FLJ10667, KIAA1686, PEPP2 Yes No Comparative Toxicogenomics Database:54477, Ensembl:ENSG00000052126, GeneCard:PLEKHA5, HGNC:HGNC:30036, HumanCyc Gene:HS00648, ModBase:Q9HAU0, NCBI Gene:54477, OMIM:607770, RefSeq DNA:NT_009714, RefSeq Protein:NP_001137293, RefSeq Protein:NP_001177789, RefSeq Protein:NP_061885, RefSeq RNA:NM_001143821, RefSeq RNA:NM_001190860, RefSeq RNA:NM_019012, RefSeq RNA:NR_026568, UniProtKB:B4DGS1, UniProtKB:B4DHK5, UniProtKB:Q9HAU0 No chr12 19282626 19529334 19129680 19376400 +PA134955964 22874 HGNC:17053 ENSG00000143850 pleckstrin homology domain containing A6 PLEKHA6 pleckstrin homology domain containing, family A member 6 KIAA0969, PEPP3 Yes No Comparative Toxicogenomics Database:22874, Ensembl:ENSG00000143850, GeneCard:PLEKHA6, HGNC:HGNC:17053, HumanCyc Gene:HS13987, ModBase:Q9Y2H5, NCBI Gene:22874, OMIM:607771, RefSeq DNA:NT_004487, RefSeq Protein:NP_055750, RefSeq RNA:NM_014935, UniProtKB:Q9Y2H5 No chr1 204187979 204329057 204218851 204378376 +PA134894945 144100 HGNC:27049 ENSG00000166689 pleckstrin homology domain containing A7 PLEKHA7 pleckstrin homology domain containing, family A member 7 DKFZp686M22243 Yes No Ensembl:ENSG00000166689, GeneCard:PLEKHA7, HGNC:HGNC:27049, ModBase:Q6IQ23, NCBI Gene:144100, OMIM:612686, RefSeq DNA:NT_009237, RefSeq Protein:NP_778228, RefSeq RNA:NM_175058, UniProtKB:Q6IQ23 No chr11 16809207 17035963 16787153 17014423 +PA134926954 84725 HGNC:30037 ENSG00000106086 pleckstrin homology domain containing A8 PLEKHA8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 FAPP2, MGC3358 Yes No Comparative Toxicogenomics Database:84725, Ensembl:ENSG00000106086, GeneCard:PLEKHA8, HGNC:HGNC:30037, HumanCyc Gene:HS12624, NCBI Gene:84725, OMIM:608639, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001183955, RefSeq Protein:NP_001183956, RefSeq Protein:NP_116028, RefSeq RNA:NM_001197026, RefSeq RNA:NM_001197027, RefSeq RNA:NM_032639, UniProtKB:Q96JA3 No chr7 30067977 30157961 30028361 30130483 +PA134868961 51054 HGNC:30222 ENSG00000134297 pleckstrin homology domain containing, family A member 8 pseudogene 1 PLEKHA8P1 putative glycolipid transfer protein FLJ14156 Yes No Ensembl:ENSG00000134297, GeneCard:PLEKHA8P1, HGNC:HGNC:30222, HumanCyc Gene:HS13519, ModBase:O95397, NCBI Gene:51054, RefSeq DNA:NT_029419, RefSeq DNA:NT_079592, RefSeq Protein:NP_056983, RefSeq RNA:NM_015899, RefSeq RNA:NR_037144, UniProtKB:O95397 No chr12 45566817 45609789 45173034 45216006 +PA38787 58473 HGNC:19079 ENSG00000021300 pleckstrin homology domain containing B1 PLEKHB1 pleckstrin homology domain containing, family B (evectins) member 1 KPL1, PHR1, PHRET1 Yes No Comparative Toxicogenomics Database:58473, Ensembl:ENSG00000021300, GeneCard:PLEKHB1, HGNC:HGNC:19079, HumanCyc Gene:HS00406, ModBase:Q9UF11, NCBI Gene:58473, OMIM:607651, RefSeq DNA:NT_167190, RefSeq Protein:NP_001123505, RefSeq Protein:NP_001123506, RefSeq Protein:NP_001123507, RefSeq Protein:NP_001123508, RefSeq Protein:NP_067023, RefSeq RNA:NM_001130033, RefSeq RNA:NM_001130034, RefSeq RNA:NM_001130035, RefSeq RNA:NM_001130036, RefSeq RNA:NM_021200, UCSC Genome Browser:NM_021200, UniProtKB:Q9UF11 No chr11 73357223 73373864 73646178 73662819 +PA134885873 55041 HGNC:19236 ENSG00000115762 pleckstrin homology domain containing B2 PLEKHB2 pleckstrin homology domain containing, family B (evectins) member 2 EVT2, FLJ20783 Yes No Comparative Toxicogenomics Database:55041, Ensembl:ENSG00000115762, GeneCard:PLEKHB2, HGNC:HGNC:19236, HumanCyc Gene:HS12853, ModBase:Q96CS7, NCBI Gene:55041, RefSeq DNA:NT_022135, RefSeq Protein:NP_001094093, RefSeq Protein:NP_060428, RefSeq RNA:NM_001100623, RefSeq RNA:NM_017958, UniProtKB:Q53FF1, UniProtKB:Q53TH7, UniProtKB:Q96CS7 No chr2 131862420 131907425 131104847 131149852 +PA134948413 400224 HGNC:20148 ENSG00000175985 pleckstrin homology and coiled-coil domain containing D1 PLEKHD1 pleckstrin homology domain containing, family D (with coiled-coil domains) member 1 UPF0639 Yes No Ensembl:ENSG00000175985, GeneCard:PLEKHD1, HGNC:HGNC:20148, NCBI Gene:400224 No chr14 69951471 69995215 69467744 69531551 +PA134928547 79156 HGNC:20764 ENSG00000166289 pleckstrin homology and FYVE domain containing 1 PLEKHF1 pleckstrin homology domain containing, family F (with FYVE domain) member 1 APPD, MGC4090, PHAFIN1, ZFYVE15 Yes No Comparative Toxicogenomics Database:79156, Ensembl:ENSG00000166289, GeneCard:PLEKHF1, HGNC:HGNC:20764, HumanCyc Gene:HS09370, ModBase:Q96S99, NCBI Gene:79156, RefSeq DNA:NT_011109, RefSeq Protein:NP_077286, RefSeq RNA:NM_024310, UniProtKB:Q96S99 No chr19 30156327 30166384 29665420 29675477 +PA128394715 79666 HGNC:20757 ENSG00000175895 pleckstrin homology and FYVE domain containing 2 PLEKHF2 pleckstrin homology domain containing, family F (with FYVE domain) member 2 FLJ13187, PHAFIN2, ZFYVE18 Yes No Comparative Toxicogenomics Database:79666, Ensembl:ENSG00000175895, GeneCard:PLEKHF2, HGNC:HGNC:20757, HumanCyc Gene:HS10984, ModBase:Q9H8W4, NCBI Gene:79666, RefSeq DNA:NT_008046, RefSeq Protein:NP_078889, RefSeq RNA:NM_024613, UCSC Genome Browser:NM_024613, UniProtKB:Q9H8W4 No chr8 96145949 96168913 95133721 95156685 +PA134922441 57480 HGNC:20884 ENSG00000120278 pleckstrin homology and RhoGEF domain containing G1 PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 ARHGEF41, KIAA1209 Yes No Comparative Toxicogenomics Database:57480, Ensembl:ENSG00000120278, GeneCard:PLEKHG1, HGNC:HGNC:20884, ModBase:Q9ULL1, NCBI Gene:57480, RefSeq DNA:NT_025741, RefSeq Protein:NP_001025055, RefSeq RNA:NM_001029884, UniProtKB:Q5JYA6, UniProtKB:Q9ULL1 No chr6 150920999 151164801 150599863 150843665 +PA134893492 64857 HGNC:29515 ENSG00000090924 pleckstrin homology and RhoGEF domain containing G2 PLEKHG2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ARHGEF42, CLG, FLJ00018 Yes No Ensembl:ENSG00000090924, GeneCard:PLEKHG2, HGNC:HGNC:29515, NCBI Gene:64857, OMIM:611893, RefSeq DNA:NT_011109, RefSeq Protein:NP_073746, RefSeq RNA:NM_022835, UniProtKB:Q9H7P9 No chr19 39903222 39919055 39412582 39428415 +PA134925358 26030 HGNC:20364 ENSG00000126822 pleckstrin homology and RhoGEF domain containing G3 PLEKHG3 pleckstrin homology domain containing, family G (with RhoGef domain) member 3 ARHGEF43, KIAA0599 Yes No Comparative Toxicogenomics Database:26030, Ensembl:ENSG00000126822, GeneCard:PLEKHG3, HGNC:HGNC:20364, NCBI Gene:26030, RefSeq DNA:NT_026437, RefSeq Protein:NP_056364, RefSeq RNA:NM_015549, UniProtKB:A1L390 No chr14 65171132 65213623 64704129 64744346 +PA142671163 25894 HGNC:24501 ENSG00000196155 pleckstrin homology and RhoGEF domain containing G4 PLEKHG4 """pleckstrin homology domain containing, family G (with RhoGef domain) member 4"", ""puratrophin-1""" ARHGEF44, DKFZP434I216, SCA4 Yes No Comparative Toxicogenomics Database:25894, Ensembl:ENSG00000196155, GeneCard:PLEKHG4, HGNC:HGNC:24501, ModBase:Q58EX7, NCBI Gene:25894, OMIM:117210, OMIM:600223, OMIM:609526, RefSeq DNA:NG_008439, RefSeq DNA:NT_010498, RefSeq Protein:NP_001123199, RefSeq Protein:NP_001123200, RefSeq Protein:NP_001123201, RefSeq Protein:NP_001123203, RefSeq Protein:NP_056247, RefSeq RNA:NM_001129727, RefSeq RNA:NM_001129728, RefSeq RNA:NM_001129729, RefSeq RNA:NM_001129731, RefSeq RNA:NM_015432, UniProtKB:Q58EX7 No chr16 67311413 67323403 67277820 67289500 +PA162399667 153478 HGNC:29399 ENSG00000153404 pleckstrin homology and RhoGEF domain containing G4B PLEKHG4B pleckstrin homology domain containing, family G (with RhoGef domain) member 4B ARHGEF48, KIAA1909 Yes No Ensembl:ENSG00000153404, GeneCard:PLEKHG4B, HGNC:HGNC:29399, NCBI Gene:153478, RefSeq DNA:NT_006576, RefSeq Protein:NP_443141, RefSeq RNA:NM_052909, UniProtKB:Q96PX9 No chr5 140373 190087 54065 189972 +PA142671164 57449 HGNC:29105 ENSG00000171680 pleckstrin homology and RhoGEF domain containing G5 PLEKHG5 """pleckstrin homology domain containing, family G (with RhoGef domain) member 5"", ""synectin-binding guanine exchange factor""" ARHGEF45, GEF720, KIAA0720, Syx, Tech Yes No Comparative Toxicogenomics Database:57449, Ensembl:ENSG00000171680, GeneCard:PLEKHG5, HGNC:HGNC:29105, ModBase:O94827, NCBI Gene:57449, OMIM:611067, OMIM:611101, RefSeq DNA:NG_007978, RefSeq DNA:NT_021937, RefSeq Protein:NP_001036128, RefSeq Protein:NP_001036129, RefSeq Protein:NP_001036130, RefSeq Protein:NP_065682, RefSeq Protein:NP_941374, RefSeq RNA:NM_001042663, RefSeq RNA:NM_001042664, RefSeq RNA:NM_001042665, RefSeq RNA:NM_020631, RefSeq RNA:NM_198681, UniProtKB:O94827 No chr1 6526152 6580121 6466092 6520061 +PA142671165 55200 HGNC:25562 ENSG00000008323 pleckstrin homology and RhoGEF domain containing G6 PLEKHG6 """myosin II interacting GEF"", ""pleckstrin homology domain containing, family G (with RhoGef domain) member 6""" ARHGEF46, FLJ10665, MYOGEF Yes No Comparative Toxicogenomics Database:55200, Ensembl:ENSG00000008323, GeneCard:PLEKHG6, HGNC:HGNC:25562, HumanCyc Gene:HS12028, NCBI Gene:55200, OMIM:611743, RefSeq DNA:NT_009759, RefSeq Protein:NP_001138328, RefSeq Protein:NP_001138329, RefSeq Protein:NP_060643, RefSeq RNA:NM_001144856, RefSeq RNA:NM_001144857, RefSeq RNA:NM_018173, UniProtKB:Q3KR16 No chr12 6419602 6437672 6310436 6328506 +PA162399708 440107 HGNC:33829 ENSG00000187510 pleckstrin homology and RhoGEF domain containing G7 PLEKHG7 pleckstrin homology domain containing, family G (with RhoGef domain) member 7 C12orf74, FLJ46688 Yes No Ensembl:ENSG00000187510, GeneCard:PLEKHG7, HGNC:HGNC:33829, ModBase:Q6ZR37, NCBI Gene:440107, RefSeq DNA:NT_029419, RefSeq Protein:NP_001004330, RefSeq RNA:NM_001004330, UniProtKB:Q6ZR37 No chr12 93115122 93166231 92736489 92772092 +PA134879998 57475 HGNC:17733 ENSG00000054690 pleckstrin homology, MyTH4 and FERM domain containing H1 PLEKHH1 pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 KIAA1200 Yes No Comparative Toxicogenomics Database:57475, Ensembl:ENSG00000054690, GeneCard:PLEKHH1, HGNC:HGNC:17733, ModBase:Q9ULM0, NCBI Gene:57475, RefSeq DNA:NT_026437, RefSeq Protein:NP_065766, RefSeq RNA:NM_020715, UniProtKB:Q9ULM0 No chr14 67999916 68056255 67533155 67589766 +PA134912826 130271 HGNC:30506 ENSG00000152527 pleckstrin homology, MyTH4 and FERM domain containing H2 PLEKHH2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 KIAA2028, PLEKHH1L Yes Yes Ensembl:ENSG00000152527, GeneCard:PLEKHH2, HGNC:HGNC:30506, ModBase:Q8IVE3, NCBI Gene:130271, OMIM:612723, RefSeq DNA:NT_022184, RefSeq Protein:NP_742066, RefSeq RNA:NM_172069, UniProtKB:Q8IVE3 No chr2 43864439 43995126 43637300 43767987 +PA143485577 79990 HGNC:26105 ENSG00000068137 pleckstrin homology, MyTH4 and FERM domain containing H3 PLEKHH3 pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 FLJ21019 Yes No Comparative Toxicogenomics Database:79990, Ensembl:ENSG00000068137, GeneCard:PLEKHH3, HGNC:HGNC:26105, HumanCyc Gene:HS00932, ModBase:Q7Z736, NCBI Gene:79990, RefSeq DNA:NT_010783, RefSeq Protein:NP_079203, RefSeq RNA:NM_024927, UniProtKB:Q7Z736 No chr17 40819932 40829048 42667914 42677030 +PA134936152 55111 HGNC:18211 ENSG00000104886 pleckstrin homology domain containing J1 PLEKHJ1 """guanine nucleotide releasing protein x"", ""pleckstrin homology domain containing, family J member 1""" FLJ10297 Yes Yes Ensembl:ENSG00000104886, GeneCard:PLEKHJ1, HGNC:HGNC:18211, HumanCyc Gene:HS12563, ModBase:Q9NW61, NCBI Gene:55111, RefSeq DNA:NT_011255, RefSeq Protein:NP_060519, RefSeq RNA:NM_018049, UniProtKB:Q9NW61 No chr19 2233149 2237703 2229952 2236724 +PA134906881 9842 HGNC:29017 ENSG00000225190, ENSG00000233758 pleckstrin homology and RUN domain containing M1 PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1 KIAA0356 Yes No Comparative Toxicogenomics Database:9842, Ensembl:ENSG00000225190, Ensembl:ENSG00000233758, GeneCard:PLEKHM1, HGNC:HGNC:29017, ModBase:Q9Y4G2, NCBI Gene:9842, OMIM:611466, OMIM:611497, RefSeq DNA:NG_012932, RefSeq DNA:NT_010783, RefSeq DNA:NT_167251, RefSeq Protein:NP_055613, RefSeq RNA:NM_014798, RefSeq RNA:NR_027774, RefSeq RNA:NR_027782, UniProtKB:Q9Y4G2 No chr17 43513266 43568146 45434262 45490780 +PA134888781 23207 HGNC:29131 ENSG00000116786 pleckstrin homology and RUN domain containing M2 PLEKHM2 pleckstrin homology domain containing, family M (with RUN domain) member 2 KIAA0842 Yes No Ensembl:ENSG00000116786, GeneCard:PLEKHM2, HGNC:HGNC:29131, ModBase:Q9NTF7, NCBI Gene:23207, OMIM:609613, RefSeq DNA:NT_004610, RefSeq Protein:NP_055979, RefSeq RNA:NM_015164, UniProtKB:Q8IWE5 No chr1 16010632 16061264 15681506 15734769 +PA162399738 389072 HGNC:34006 ENSG00000178385 pleckstrin homology domain containing M3 PLEKHM3 """differentiation associated protein"", ""pleckstrin homology domain containing, family M, member 3""" DAPR, PLEKHM1L Yes No Ensembl:ENSG00000178385, GeneCard:PLEKHM3, HGNC:HGNC:34006, ModBase:Q6ZWE6, NCBI Gene:389072, RefSeq DNA:NT_005403, RefSeq Protein:NP_001073944, RefSeq RNA:NM_001080475, UniProtKB:Q6ZWE6 No chr2 208686012 208890284 207821288 208025675 +PA142671166 84069 HGNC:25284 ENSG00000187583 pleckstrin homology domain containing N1 PLEKHN1 pleckstrin homology domain containing, family N member 1 DKFZP434H2010 Yes Yes Ensembl:ENSG00000187583, GeneCard:PLEKHN1, HGNC:HGNC:25284, NCBI Gene:84069, RefSeq DNA:NT_004350, RefSeq Protein:NP_001153656, RefSeq Protein:NP_115505, RefSeq RNA:NM_001160184, RefSeq RNA:NM_032129, UniProtKB:Q494U1 No chr1 901872 910488 965820 975108 +PA142671167 51177 HGNC:24310 ENSG00000023902 pleckstrin homology domain containing O1 PLEKHO1 pleckstrin homology domain containing, family O member 1 CKIP-1, OC120 Yes No Comparative Toxicogenomics Database:51177, Ensembl:ENSG00000023902, GeneCard:PLEKHO1, HGNC:HGNC:24310, HumanCyc Gene:HS12071, ModBase:Q53GL0, NCBI Gene:51177, OMIM:608335, RefSeq DNA:NT_004487, RefSeq Protein:NP_057358, RefSeq RNA:NM_016274, UniProtKB:Q53GL0 No chr1 150122170 150131825 150149434 150160065 +PA162399756 80301 HGNC:30026 ENSG00000241839 pleckstrin homology domain containing O2 PLEKHO2 pleckstrin homology domain containing, family O member 2 DKFZp761K2312, PLEKHQ1, PP1628, pp9099 Yes No Ensembl:ENSG00000241839, GeneCard:PLEKHO2, HGNC:HGNC:30026, ModBase:Q8TD55, NCBI Gene:80301, RefSeq DNA:NT_010194, RefSeq Protein:NP_001181988, RefSeq Protein:NP_079477, RefSeq RNA:NM_001195059, RefSeq RNA:NM_025201, UniProtKB:Q8TD55 No chr15 65134082 65160201 64841883 64868002 +PA134886856 79949 HGNC:26285 ENSG00000148735 pleckstrin homology domain containing S1 PLEKHS1 pleckstrin homology domain containing, family S member 1 C10orf81, FLJ23537, bA211N11.2 Yes No Ensembl:ENSG00000148735, GeneCard:C10orf81, HGNC:HGNC:26285, HumanCyc Gene:HS07557, NCBI Gene:79949, RefSeq DNA:NT_030059, RefSeq Protein:NP_001180363, RefSeq Protein:NP_001180364, RefSeq Protein:NP_079165, RefSeq Protein:NP_872407, RefSeq RNA:NM_001193434, RefSeq RNA:NM_001193435, RefSeq RNA:NM_024889, RefSeq RNA:NM_182601, UniProtKB:Q5SXH7 No chr10 115511213 115542192 113751262 113782433 +PA134915529 349633 HGNC:30053 ENSG00000188771 placenta expressed transcript 1 PLET1 chromosome 11 open reading frame 34, placenta-expressed transcript 1 C11orf34, PLET1 Yes No Ensembl:ENSG00000188771, GeneCard:C11orf34, HGNC:HGNC:30053, ModBase:Q6UQ28, NCBI Gene:349633, OMIM:611904, RefSeq DNA:NT_033899, RefSeq Protein:NP_001138496, RefSeq RNA:NM_001145024, UniProtKB:Q6UQ28 No chr11 112118876 112131583 112248153 112260860 +PA33405 5340 HGNC:9071 ENSG00000122194 plasminogen PLG Yes Yes Comparative Toxicogenomics Database:5340, Ensembl:ENSG00000122194, GenAtlas:PLG, GeneCard:PLG, HGNC:HGNC:9071, HumanCyc Gene:HS04553, ModBase:P00747, NCBI Gene:5340, OMIM:173350, OMIM:217090, RefSeq DNA:NG_016200, RefSeq DNA:NT_025741, RefSeq Protein:NP_000292, RefSeq Protein:NP_001161810, RefSeq RNA:NM_000301, RefSeq RNA:NM_001168338, UCSC Genome Browser:NM_000301, UniProtKB:P00747, UniProtKB:Q5TEH5 No chr6 161123225 161175086 160702193 160754054 +PA33408 285189 HGNC:9074 ENSG00000240935 plasminogen-like A (pseudogene) PLGLA Yes No Ensembl:ENSG00000240935, GenAtlas:PLGLA1, GeneCard:PLGLA, HGNC:HGNC:9074, NCBI Gene:285189, RefSeq DNA:NT_022171, RefSeq Protein:XP_376111, RefSeq Protein:XP_935050, RefSeq Protein:XP_939217, RefSeq Protein:XP_939218, RefSeq Protein:XP_939219, RefSeq Protein:XP_939221, RefSeq Protein:XP_939223, RefSeq RNA:NR_003506, RefSeq RNA:XM_376111, RefSeq RNA:XM_929957, RefSeq RNA:XM_934124, RefSeq RNA:XM_934125, RefSeq RNA:XM_934126, RefSeq RNA:XM_934128, RefSeq RNA:XM_934130 No chr2 106998570 107007851 106382114 106391395 +PA33406 5343 HGNC:9072 ENSG00000125551, ENSG00000183281 plasminogen like B1 PLGLB1 plasminogen-like B1 PLGL, PRP-B Yes No Comparative Toxicogenomics Database:5343, Ensembl:ENSG00000125551, Ensembl:ENSG00000183281, GenAtlas:PLGLB1, GeneCard:PLGLB1, HGNC:HGNC:9072, NCBI Gene:5343, OMIM:173340, RefSeq DNA:NT_022184, RefSeq Protein:NP_001027564, RefSeq RNA:NM_001032392, UCSC Genome Browser:NM_002665, UniProtKB:Q02325 No chr2 87237587 87248969 87010464 87021846 +PA33407 5342 HGNC:9073 ENSG00000125551 plasminogen like B2 PLGLB2 plasminogen-like B2 PLGP1 Yes No Ensembl:ENSG00000125551, GenAtlas:PLGLB2, GeneCard:PLGLB2, HGNC:HGNC:9073, HumanCyc Gene:HS04904, NCBI Gene:5342, RefSeq DNA:NT_022184, RefSeq Protein:NP_002656, RefSeq RNA:NM_002665 No chr2 88047606 88058995 87748087 87759476 +PA134964114 55848 HGNC:23633 ENSG00000107020 plasminogen receptor with a C-terminal lysine PLGRKT """plasminogen receptor with a C-terminal lysine"", ""plasminogen receptor, C-terminal lysine transmembrane protein"", ""uncharacterized hematopoietic stem/progenitor cells protein MDS030""" AD025, C9orf46, FLJ14688, MDS030, Plg-RKT Yes No Ensembl:ENSG00000107020, GeneCard:C9orf46, HGNC:HGNC:23633, HumanCyc Gene:HS12647, NCBI Gene:55848, RefSeq DNA:NT_008413, RefSeq Protein:NP_060935, RefSeq RNA:NM_018465, UniProtKB:Q9HBL7 No chr9 5357966 5438381 5357966 5438476 +PA33409 5346 HGNC:9076 ENSG00000166819 perilipin 1 PLIN1 PLIN Yes Yes Ensembl:ENSG00000166819, GenAtlas:PLIN, GeneCard:PLIN, GeneCard:PLIN1, HGNC:HGNC:9076, HumanCyc Gene:HS09455, ModBase:O60240, NCBI Gene:5346, OMIM:170290, RefSeq DNA:NT_010274, RefSeq Protein:NP_001138783, RefSeq Protein:NP_002657, RefSeq RNA:NM_001145311, RefSeq RNA:NM_002666, UCSC Genome Browser:NM_002666, UniProtKB:O60240 No chr15 90207598 90222648 89664365 89679417 +PA24569 123 HGNC:248 ENSG00000147872 perilipin 2 PLIN2 adipophilin ADFP, ADRP Yes No Comparative Toxicogenomics Database:123, Ensembl:ENSG00000147872, GenAtlas:ADFP, GeneCard:ADFP, GeneCard:PLIN2, HGNC:HGNC:248, HumanCyc Gene:HS07476, ModBase:Q99541, NCBI Gene:123, OMIM:103195, RefSeq DNA:NT_008413, RefSeq Protein:NP_001113, RefSeq RNA:NM_001122, RefSeq RNA:NR_038064, UCSC Genome Browser:NM_001122, UniProtKB:Q6FHZ7, UniProtKB:Q99541 No chr9 19115759 19127604 19108391 19127606 +PA165394001 10226 HGNC:16893 ENSG00000105355 perilipin 3 PLIN3 """MPR-BINDING PROTEIN, 47-KD"", ""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17""" M6PRBP1, PP17, TIP47 Yes No Comparative Toxicogenomics Database:10226, Ensembl:ENSG00000105355, GeneCard:PLIN3, HGNC:HGNC:16893, HumanCyc Gene:HS02716, ModBase:O60664, NCBI Gene:10226, OMIM:602702, RefSeq DNA:NT_011255, RefSeq Protein:NP_001157661, RefSeq Protein:NP_001157666, RefSeq Protein:NP_005808, RefSeq RNA:NM_001164189, RefSeq RNA:NM_001164194, RefSeq RNA:NM_005817, UniProtKB:O60664 No chr19 4838346 4867780 4838334 4867768 +PA165394042 729359 HGNC:29393 ENSG00000167676 perilipin 4 PLIN4 KIAA1881, S3-12 Yes No Ensembl:ENSG00000167676, GeneCard:PLIN4, HGNC:HGNC:29393, ModBase:Q96Q06, NCBI Gene:729359, OMIM:613247, RefSeq DNA:NT_011255, RefSeq Protein:NP_001073869, RefSeq RNA:NM_001080400, UniProtKB:Q96Q06 No chr19 4502192 4518529 4502180 4520285 +PA165394043 440503 HGNC:33196 ENSG00000214456 perilipin 5 PLIN5 lipid storage droplet protein 5 LSDA5, LSDP5, MLDP, OXPAT Yes No Ensembl:ENSG00000214456, GeneCard:PLIN5, HGNC:HGNC:33196, NCBI Gene:440503, OMIM:613248, RefSeq DNA:NT_011255, RefSeq Protein:NP_001013728, RefSeq RNA:NM_001013706, UniProtKB:Q00G26 No chr19 4522543 4535208 4522531 4535196 +PA33410 5347 HGNC:9077 ENSG00000166851 polo like kinase 1 PLK1 polo-like kinase 1 PLK Yes No Comparative Toxicogenomics Database:5347, Ensembl:ENSG00000166851, GenAtlas:PLK1, GeneCard:PLK1, HGNC:HGNC:9077, HumanCyc Gene:HS09461, ModBase:P53350, NCBI Gene:5347, OMIM:602098, RefSeq DNA:NT_010393, RefSeq Protein:NP_005021, RefSeq RNA:NM_005030, UCSC Genome Browser:NM_005030, UniProtKB:P53350 No chr16 23690201 23701688 23678772 23690367 +PA134940798 10769 HGNC:19699 ENSG00000145632 polo like kinase 2 PLK2 polo-like kinase 2, serum-inducible kinase SNK Yes No Comparative Toxicogenomics Database:10769, Ensembl:ENSG00000145632, GeneCard:PLK2, HGNC:HGNC:19699, HumanCyc Gene:HS07267, ModBase:Q9NYY3, NCBI Gene:10769, OMIM:607023, RefSeq DNA:NT_006713, RefSeq Protein:NP_006613, RefSeq RNA:NM_006622, UniProtKB:Q9NYY3 No chr5 57749809 57755966 58453982 58460139 +PA26664 1263 HGNC:2154 ENSG00000173846 polo like kinase 3 PLK3 polo-like kinase 3 CNK, FNK, PRK Yes No Comparative Toxicogenomics Database:1263, Ensembl:ENSG00000173846, GenAtlas:PLK3, GeneCard:PLK3, HGNC:HGNC:2154, HumanCyc Gene:HS10737, ModBase:Q9H4B4, NCBI Gene:1263, OMIM:602913, RefSeq DNA:NT_032977, RefSeq Protein:NP_004064, RefSeq RNA:NM_004073, UCSC Genome Browser:NM_004073, UniProtKB:Q9H4B4 No chr1 45265638 45271667 44799952 44805995 +PA36205 10733 HGNC:11397 ENSG00000142731 polo like kinase 4 PLK4 polo-like kinase 4 STK18, Sak Yes No Comparative Toxicogenomics Database:10733, Ensembl:ENSG00000142731, GenAtlas:PLK4, GeneCard:PLK4, HGNC:HGNC:11397, HumanCyc Gene:HS06956, ModBase:O00444, NCBI Gene:10733, OMIM:605031, RefSeq DNA:NT_016354, RefSeq Protein:NP_001177728, RefSeq Protein:NP_001177730, RefSeq Protein:NP_055079, RefSeq RNA:NM_001190799, RefSeq RNA:NM_001190801, RefSeq RNA:NM_014264, UCSC Genome Browser:NM_014264, UniProtKB:O00444 No chr4 128802016 128820379 127880861 127899224 +PA166048975 126520 HGNC:27001 ENSG00000185988 polo like kinase 5 (inactive) PLK5 polo like kinase 5, polo-like kinase 5 PLK5P, SgK384ps Yes No Ensembl:ENSG00000185988, HGNC:HGNC:27001, NCBI Gene:126520 No chr19 1524073 1535455 1524074 1535456 +PA38572 51090 HGNC:18553 ENSG00000102934 plasmolipin PLLP plasma membrane proteolipid PMLP, TM4SF11 Yes No Comparative Toxicogenomics Database:51090, Ensembl:ENSG00000102934, GenAtlas:PLLP, GeneCard:PLLP, HGNC:HGNC:18553, HumanCyc Gene:HS02431, NCBI Gene:51090, OMIM:600340, RefSeq DNA:NT_010498, RefSeq Protein:NP_057077, RefSeq RNA:NM_015993, UCSC Genome Browser:NM_015993, UniProtKB:Q9Y342 No chr16 57290009 57318584 57256097 57284672 +PA272 5350 HGNC:9080 ENSG00000198523 phospholamban PLN CMD1P, PLB Yes No Comparative Toxicogenomics Database:5350, Ensembl:ENSG00000198523, GenAtlas:PLN, GeneCard:PLN, HGNC:HGNC:9080, ModBase:P26678, NCBI Gene:5350, OMIM:172405, OMIM:609909, RefSeq DNA:NG_009082, RefSeq DNA:NT_025741, RefSeq Protein:NP_002658, RefSeq RNA:NM_002667, UCSC Genome Browser:NM_002667, UniProtKB:P26678, UniProtKB:Q5R352 No chr6 118869442 118881587 118548263 118561715 +PA33411 5351 HGNC:9081 ENSG00000083444 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 PLOD1 """lysyl hydroxlase 1"", ""procollagen lysyl hydroxylase 1"", ""procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1""" LH1, LLH, PLOD Yes No Comparative Toxicogenomics Database:5351, Ensembl:ENSG00000083444, GenAtlas:PLOD1, GeneCard:PLOD1, HGNC:HGNC:9081, HumanCyc Gene:HS01440, ModBase:Q02809, NCBI Gene:5351, OMIM:153454, OMIM:225400, OMIM:601451, RefSeq DNA:NG_008159, RefSeq DNA:NT_021937, RefSeq Protein:NP_000293, RefSeq RNA:NM_000302, UCSC Genome Browser:NM_000302, UniProtKB:Q02809 No chr1 11994724 12035599 11934667 11975542 +PA33412 5352 HGNC:9082 ENSG00000152952 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 PLOD2 """lysyl hydroxlase 2"", ""procollagen lysyl hydroxylase 2"", ""procollagen-lysine 5-dioxygenase"", ""procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2"", ""telopeptidyl lysyl hydroxylase""" LH2, TLH Yes No Comparative Toxicogenomics Database:5352, Ensembl:ENSG00000152952, GenAtlas:PLOD2, GeneCard:PLOD2, HGNC:HGNC:9082, HumanCyc Gene:HS07866, ModBase:O00469, NCBI Gene:5352, OMIM:601865, OMIM:609220, RefSeq DNA:NG_009251, RefSeq DNA:NT_005612, RefSeq Protein:NP_000926, RefSeq Protein:NP_891988, RefSeq RNA:NM_000935, RefSeq RNA:NM_182943, UCSC Genome Browser:NM_000935, UniProtKB:O00469, UniProtKB:Q59ED2 No chr3 145787225 145879282 146069436 146161495 +PA33413 8985 HGNC:9083 ENSG00000106397 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 PLOD3 """Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3"", ""lysyl hydroxlase 3"", ""procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3""" LH3 Yes No Comparative Toxicogenomics Database:8985, Ensembl:ENSG00000106397, GenAtlas:PLOD3, GeneCard:PLOD3, HGNC:HGNC:9083, HumanCyc Gene:HS02902, ModBase:O60568, NCBI Gene:8985, OMIM:603066, OMIM:612394, RefSeq DNA:NG_012148, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001075, RefSeq RNA:NM_001084, UCSC Genome Browser:NM_001084, UniProtKB:O60568, UniProtKB:Q9UG85 No chr7 100849258 100861011 101205977 101217730 +PA33414 5354 HGNC:9086 ENSG00000123560 proteolipid protein 1 PLP1 Pelizaeus-Merzbacher disease GPM6C, PLP, SPG2 Yes No Comparative Toxicogenomics Database:5354, Ensembl:ENSG00000123560, GenAtlas:PLP1, GeneCard:PLP1, HGNC:HGNC:9086, HumanCyc Gene:HS04669, ModBase:P60201, NCBI Gene:5354, OMIM:300401, OMIM:312080, OMIM:312920, RefSeq DNA:NG_008863, RefSeq DNA:NT_011651, RefSeq Protein:NP_000524, RefSeq Protein:NP_001122306, RefSeq Protein:NP_955772, RefSeq RNA:NM_000533, RefSeq RNA:NM_001128834, RefSeq RNA:NM_199478, UCSC Genome Browser:NM_000533, UniProtKB:A8K9L3, UniProtKB:P60201 No chrX 103031439 103047548 103776506 103792619 +PA33415 5355 HGNC:9087 ENSG00000102007 proteolipid protein 2 PLP2 A4 differentiation-dependent protein, proteolipid protein 2 (colonic epithelium-enriched) A4, A4-LSB, MGC126187 Yes No Comparative Toxicogenomics Database:5355, Ensembl:ENSG00000102007, GenAtlas:PLP2, GeneCard:PLP2, HGNC:HGNC:9087, HumanCyc Gene:HS02333, NCBI Gene:5355, OMIM:300112, RefSeq DNA:NG_016420, RefSeq DNA:NT_079573, RefSeq Protein:NP_002659, RefSeq RNA:NM_002668, UCSC Genome Browser:NM_002668, UniProtKB:Q04941 No chrX 49028184 49031469 49171837 49175120 +PA33810 11212 HGNC:9457 ENSG00000147471 pyridoxal phosphate binding protein PLPBP proline synthetase co-transcribed homolog (bacterial) PROSC Yes No Comparative Toxicogenomics Database:11212, Ensembl:ENSG00000147471, GenAtlas:PROSC, GeneCard:PROSC, HGNC:HGNC:9457, ModBase:O94903, NCBI Gene:11212, OMIM:604436, RefSeq DNA:NT_167187, RefSeq Protein:NP_009129, RefSeq RNA:NM_007198, UCSC Genome Browser:NM_007198, UniProtKB:O94903 No chr8 37619680 37637286 37761753 37779768 +PA33552 8611 HGNC:9228 ENSG00000067113 phospholipid phosphatase 1 PLPP1 phosphatidic acid phosphatase type 2A LPP1, PAP-2a, PPAP2A Yes No Comparative Toxicogenomics Database:8611, Ensembl:ENSG00000067113, GenAtlas:PPAP2A, GeneCard:PPAP2A, HGNC:HGNC:9228, HumanCyc Gene:HS00898, ModBase:O14494, NCBI Gene:8611, OMIM:607124, RefSeq DNA:NT_006713, RefSeq Protein:NP_003702, RefSeq Protein:NP_795714, RefSeq RNA:NM_003711, RefSeq RNA:NM_176895, UCSC Genome Browser:NM_003711, UniProtKB:O14494 No chr5 54720670 54830906 55424842 55535370 +PA33554 8612 HGNC:9230 ENSG00000141934 phospholipid phosphatase 2 PLPP2 phosphatidic acid phosphatase type 2C LPP2, PAP-2c, PPAP2C Yes No Comparative Toxicogenomics Database:8612, Ensembl:ENSG00000141934, GenAtlas:PPAP2C, GeneCard:PPAP2C, HGNC:HGNC:9230, HumanCyc Gene:HS06877, ModBase:O43688, NCBI Gene:8612, OMIM:607126, RefSeq DNA:NT_011255, RefSeq Protein:NP_003703, RefSeq Protein:NP_803545, RefSeq Protein:NP_808211, RefSeq RNA:NM_003712, RefSeq RNA:NM_177526, RefSeq RNA:NM_177543, UCSC Genome Browser:NM_003712, UniProtKB:O43688 No chr19 281040 291435 281040 291435 +PA33553 8613 HGNC:9229 ENSG00000162407 phospholipid phosphatase 3 PLPP3 phosphatidic acid phosphatase type 2B LPP3, PAP-2b, PPAP2B Yes No Comparative Toxicogenomics Database:8613, Ensembl:ENSG00000162407, GenAtlas:PPAP2B, GeneCard:PPAP2B, HGNC:HGNC:9229, HumanCyc Gene:HS08670, ModBase:O14495, NCBI Gene:8613, OMIM:607125, RefSeq DNA:NT_032977, RefSeq Protein:NP_003704, RefSeq Protein:NP_803133, RefSeq RNA:NM_003713, RefSeq RNA:NM_177414, UCSC Genome Browser:NM_003713, UniProtKB:O14495 No chr1 56960419 57045257 56494747 56579584 +PA134907381 196051 HGNC:23531 ENSG00000203805 phospholipid phosphatase 4 PLPP4 diacylglycerol pyrophosphate phosphatase-like 2, phosphatidic acid phosphatase type 2 domain containing 1A DPPL2, PPAPDC1, PPAPDC1A Yes No Ensembl:ENSG00000203805, GeneCard:PPAPDC1A, HGNC:HGNC:23531, ModBase:Q5VZY2, NCBI Gene:196051, RefSeq DNA:NT_030059, RefSeq Protein:NP_001025230, RefSeq RNA:NM_001030059, UniProtKB:Q5VZY2 No chr10 122216466 122349367 120456954 120600123 +PA142671154 84513 HGNC:25026 ENSG00000147535 phospholipid phosphatase 5 PLPP5 diacylglycerol pyrophosphate phosphatase-like 1, phosphatidic acid phosphatase type 2 domain containing 1B DPPL1, HTPAP, PPAPDC1B Yes No Ensembl:ENSG00000147535, GeneCard:PPAPDC1B, HGNC:HGNC:25026, HumanCyc Gene:HS14209, ModBase:Q8NEB5, NCBI Gene:84513, OMIM:610626, RefSeq DNA:NT_167187, RefSeq Protein:NP_001096029, RefSeq Protein:NP_001096030, RefSeq Protein:NP_115872, RefSeq RNA:NM_001102559, RefSeq RNA:NM_001102560, RefSeq RNA:NM_032483, UniProtKB:C9JKF5, UniProtKB:Q8NEB5 No chr8 38119035 38126841 38263130 38269435 +PA142671155 403313 HGNC:23682 ENSG00000205808 phospholipid phosphatase 6 PLPP6 phosphatidic acid phosphatase type 2 domain containing 2, polyisoprenoid diphosphate phosphatase type 1, presqualene diphosphate phosphatase FLJ46512, FLJ90191, PDP1, PPAPDC2 Yes No Comparative Toxicogenomics Database:403313, Ensembl:ENSG00000205808, GeneCard:PPAPDC2, HGNC:HGNC:23682, ModBase:Q8IY26, NCBI Gene:403313, OMIM:611666, RefSeq DNA:NT_008413, RefSeq Protein:NP_982278, RefSeq RNA:NM_203453, UniProtKB:Q8IY26 No chr9 4662294 4665274 4662294 4665274 +PA134931886 84814 HGNC:28174 ENSG00000160539 phospholipid phosphatase 7 (inactive) PLPP7 nuclear envelope transmembrane protein NET39, phosphatidic acid phosphatase type 2 domain containing 3 C9orf67, FLJ14662, MGC12921, NET39, PPAPDC3 Yes No Comparative Toxicogenomics Database:84814, Ensembl:ENSG00000160539, GeneCard:PPAPDC3, HGNC:HGNC:28174, HumanCyc Gene:HS14817, ModBase:Q8NBV4, NCBI Gene:84814, RefSeq DNA:NT_035014, RefSeq Protein:NP_116117, RefSeq RNA:NM_032728, UniProtKB:Q8NBV4 No chr9 134165069 134184649 131289682 131309262 +PA166181595 54886 HGNC:25993 ENSG00000148123 phospholipid phosphatase related 1 PLPPR1 FLJ20300, LPPR1, MGC26189, PRG-3 Yes No Ensembl:ENSG00000148123, HGNC:HGNC:25993, NCBI Gene:54886 No 0 0 0 0 +PA166181596 64748 HGNC:29566 ENSG00000105520 phospholipid phosphatase related 2 PLPPR2 LPPR2, PRG-4 Yes No Ensembl:ENSG00000105520, HGNC:HGNC:29566, NCBI Gene:64748 No 0 0 0 0 +PA166181597 79948 HGNC:23497 ENSG00000129951 phospholipid phosphatase related 3 PLPPR3 FLJ11535, LPPR3, PRG-2, PRG2 Yes No Ensembl:ENSG00000129951, HGNC:HGNC:23497, NCBI Gene:79948 No 0 0 0 0 +PA166181598 9890 HGNC:23496 ENSG00000117600 phospholipid phosphatase related 4 PLPPR4 plasticity related gene-1 KIAA0455, LPPR4, PHP1, PRG-1 Yes No Ensembl:ENSG00000117600, HGNC:HGNC:23496, NCBI Gene:9890 No 0 0 0 0 +PA166181599 163404 HGNC:31703 ENSG00000117598 phospholipid phosphatase related 5 PLPPR5 plasticity-related gene 5 LPPR5, PAP2, PAP2D, PRG5 Yes No Ensembl:ENSG00000117598, HGNC:HGNC:31703, NCBI Gene:163404 No 0 0 0 0 +PA33416 5356 HGNC:9089 ENSG00000171566 pleiotropic regulator 1 PLRG1 transport and golgi organization 4 homolog (Drosophila) Cwc1, PRL1, PRPF46, Prp46, TANGO4 Yes No Comparative Toxicogenomics Database:5356, Ensembl:ENSG00000171566, GenAtlas:PLRG1, GeneCard:PLRG1, HGNC:HGNC:9089, HumanCyc Gene:HS10345, ModBase:O43660, NCBI Gene:5356, OMIM:605961, RefSeq DNA:NT_016354, RefSeq Protein:NP_001188493, RefSeq Protein:NP_002660, RefSeq RNA:NM_001201564, RefSeq RNA:NM_002669, UCSC Genome Browser:NM_002669, UniProtKB:O43660 No chr4 155456149 155471585 154534997 154550433 +PA33417 5357 HGNC:9090 ENSG00000120756 plastin 1 PLS1 I-plastin, Plastin-1, fimbrin Yes No Comparative Toxicogenomics Database:5357, Ensembl:ENSG00000120756, GenAtlas:PLS1, GeneCard:PLS1, HGNC:HGNC:9090, HumanCyc Gene:HS04433, ModBase:Q14651, NCBI Gene:5357, OMIM:602734, RefSeq DNA:NT_005612, RefSeq Protein:NP_001138791, RefSeq Protein:NP_001165783, RefSeq Protein:NP_002661, RefSeq RNA:NM_001145319, RefSeq RNA:NM_001172312, RefSeq RNA:NM_002670, UCSC Genome Browser:NM_002670, UniProtKB:Q14651 No chr3 142315229 142432506 142596387 142713664 +PA33418 5358 HGNC:9091 ENSG00000102024 plastin 3 PLS3 T-plastin Yes No Comparative Toxicogenomics Database:5358, Ensembl:ENSG00000102024, GenAtlas:PLS3, GeneCard:PLS3, HGNC:HGNC:9091, HumanCyc Gene:HS02335, ModBase:P13797, NCBI Gene:5358, OMIM:300131, RefSeq DNA:NG_012518, RefSeq DNA:NT_028405, RefSeq Protein:NP_001129497, RefSeq Protein:NP_001165806, RefSeq Protein:NP_005023, RefSeq RNA:NM_001136025, RefSeq RNA:NM_001172335, RefSeq RNA:NM_005032, UCSC Genome Browser:NM_005032, UniProtKB:A8K579, UniProtKB:B4DPW9, UniProtKB:P13797 No chrX 114795177 114885181 115560850 115650861 +PA33419 5359 HGNC:9092 ENSG00000188313 phospholipid scramblase 1 PLSCR1 MMTRA1B Yes No Comparative Toxicogenomics Database:5359, Ensembl:ENSG00000188313, GenAtlas:PLSCR1, GeneCard:PLSCR1, HGNC:HGNC:9092, ModBase:O15162, NCBI Gene:5359, OMIM:604170, RefSeq DNA:NT_005612, RefSeq Protein:NP_066928, RefSeq RNA:NM_021105, UCSC Genome Browser:NM_021105, UniProtKB:O15162 No chr3 146232967 146262628 146515178 146544841 +PA33420 57047 HGNC:16494 ENSG00000163746 phospholipid scramblase 2 PLSCR2 Yes No Comparative Toxicogenomics Database:57047, Ensembl:ENSG00000163746, GenAtlas:PLSCR2, GeneCard:PLSCR2, HGNC:HGNC:16494, HumanCyc Gene:HS08929, ModBase:Q9NRY7, NCBI Gene:57047, OMIM:607610, RefSeq DNA:NT_005612, RefSeq Protein:NP_001186907, RefSeq Protein:NP_001186908, RefSeq Protein:NP_065092, RefSeq RNA:NM_001199978, RefSeq RNA:NM_001199979, RefSeq RNA:NM_020359, UCSC Genome Browser:NM_020359, UniProtKB:Q9NRY7 No chr3 146109150 146213778 146391363 146497163 +PA33421 57048 HGNC:16495 ENSG00000187838 phospholipid scramblase 3 PLSCR3 Yes No Comparative Toxicogenomics Database:57048, Ensembl:ENSG00000187838, GenAtlas:PLSCR3, GeneCard:PLSCR3, HGNC:HGNC:16495, NCBI Gene:57048, OMIM:607611, RefSeq DNA:NT_010718, RefSeq Protein:NP_001188505, RefSeq Protein:NP_065093, RefSeq RNA:NM_001201576, RefSeq RNA:NM_020360, UCSC Genome Browser:NM_020360, UniProtKB:Q9NRY6 No chr17 7293046 7298162 7389727 7394843 +PA33422 57088 HGNC:16497 ENSG00000114698 phospholipid scramblase 4 PLSCR4 Yes No Comparative Toxicogenomics Database:57088, Ensembl:ENSG00000114698, GenAtlas:PLSCR4, GeneCard:PLSCR4, HGNC:HGNC:16497, HumanCyc Gene:HS03790, NCBI Gene:57088, OMIM:607612, RefSeq DNA:NT_005612, RefSeq Protein:NP_001121776, RefSeq Protein:NP_001121777, RefSeq Protein:NP_001121778, RefSeq Protein:NP_001170775, RefSeq Protein:NP_065086, RefSeq RNA:NM_001128304, RefSeq RNA:NM_001128305, RefSeq RNA:NM_001128306, RefSeq RNA:NM_001177304, RefSeq RNA:NM_020353, RefSeq RNA:NR_033438, RefSeq RNA:NR_033439, UCSC Genome Browser:NM_020353, UniProtKB:Q6ZR73, UniProtKB:Q9NRQ2 No chr3 145910122 145968966 146192335 146251179 +PA134902268 389158 HGNC:19952 ENSG00000231213 phospholipid scramblase family member 5 PLSCR5 phospholipid scramblase family, member 5 Yes No Ensembl:ENSG00000231213, GeneCard:PLSCR5, HGNC:HGNC:19952, NCBI Gene:389158, RefSeq DNA:NT_005612, RefSeq Protein:NP_001078889, RefSeq RNA:NM_001085420, UniProtKB:A0PG75 No chr3 146294342 146324003 146576555 146606216 +PA273 5360 HGNC:9093 ENSG00000100979 phospholipid transfer protein PLTP BPI fold containing family E BPIFE Yes No Comparative Toxicogenomics Database:5360, Ensembl:ENSG00000100979, GenAtlas:PLTP, GeneCard:PLTP, HGNC:HGNC:9093, HumanCyc Gene:HS02173, ModBase:P55058, NCBI Gene:5360, OMIM:172425, RefSeq DNA:NG_012115, RefSeq DNA:NT_011362, RefSeq Protein:NP_001229849, RefSeq Protein:NP_001229850, RefSeq Protein:NP_006218, RefSeq Protein:NP_872617, RefSeq RNA:NM_001242920, RefSeq RNA:NM_001242921, RefSeq RNA:NM_006227, RefSeq RNA:NM_182676, UCSC Genome Browser:NM_006227, UniProtKB:P55058 No chr20 44527259 44541003 45898620 45912364 +PA33424 83483 HGNC:13635 ENSG00000130300 plasmalemma vesicle associated protein PLVAP fenestrated-endothelial linked structure protein; PV-1 protein FELS, PV-1, PV1, gp68 Yes No Comparative Toxicogenomics Database:83483, Ensembl:ENSG00000130300, GenAtlas:PLVAP, GeneCard:PLVAP, HGNC:HGNC:13635, HumanCyc Gene:HS13325, ModBase:Q9BX97, NCBI Gene:83483, OMIM:607647, RefSeq DNA:NT_011295, RefSeq Protein:NP_112600, RefSeq RNA:NM_031310, UCSC Genome Browser:NM_031310, UniProtKB:Q9BX97 No chr19 17462264 17488137 17351448 17377349 +PA134990658 57125 HGNC:20945 ENSG00000161381 plexin domain containing 1 PLXDC1 tumor endothelial marker 7 precursor TEM3, TEM7 Yes No Comparative Toxicogenomics Database:57125, Ensembl:ENSG00000161381, GeneCard:PLXDC1, HGNC:HGNC:20945, HumanCyc Gene:HS08584, ModBase:Q8IUK5, NCBI Gene:57125, OMIM:606826, RefSeq DNA:NT_010783, RefSeq Protein:NP_065138, RefSeq RNA:NM_020405, UniProtKB:B2R7I8, UniProtKB:Q8IUK5 No chr17 37219556 37308946 39063303 39151649 +PA134932187 84898 HGNC:21013 ENSG00000120594 plexin domain containing 2 PLXDC2 tumor endothelial marker 7-related precursor FLJ14623, PLXDC2-OT, TEM7R Yes No Comparative Toxicogenomics Database:84898, Ensembl:ENSG00000120594, GeneCard:PLXDC2, HGNC:HGNC:21013, HumanCyc Gene:HS04411, ModBase:Q6UX71, NCBI Gene:84898, OMIM:606827, RefSeq DNA:NT_008705, RefSeq Protein:NP_116201, RefSeq RNA:NM_032812, UniProtKB:Q6UX71 No chr10 20105118 20575199 19816215 20289856 +PA33425 5361 HGNC:9099 ENSG00000114554 plexin A1 PLXNA1 NOV, PLXN1 Yes No Comparative Toxicogenomics Database:5361, Ensembl:ENSG00000114554, GenAtlas:PLXNA1, GeneCard:PLXNA1, HGNC:HGNC:9099, HumanCyc Gene:HS03780, ModBase:Q9UIW2, NCBI Gene:5361, OMIM:601055, RefSeq DNA:NT_005612, RefSeq Protein:NP_115618, RefSeq RNA:NM_032242 No chr3 126707437 126756235 126982119 127037392 +PA33426 5362 HGNC:9100 ENSG00000076356 plexin A2 PLXNA2 plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT FLJ11751, FLJ30634, KIAA0463, OCT, PLXN2 Yes No Comparative Toxicogenomics Database:5362, Ensembl:ENSG00000076356, GenAtlas:PLXNA2, GeneCard:PLXNA2, HGNC:HGNC:9100, HumanCyc Gene:HS01209, ModBase:O75051, NCBI Gene:5362, OMIM:601054, RefSeq DNA:NT_167186, RefSeq Protein:NP_079455, RefSeq RNA:NM_025179, UCSC Genome Browser:NM_025179, UniProtKB:O75051 No chr1 208195587 208417665 208022242 208244384 +PA33427 55558 HGNC:9101 ENSG00000130827 plexin A3 PLXNA3 6.3, PLXN4, Plxn3, SEX, XAP-6 Yes No Comparative Toxicogenomics Database:55558, Ensembl:ENSG00000130827, GenAtlas:PLXNA3, GeneCard:PLXNA3, HGNC:HGNC:9101, HumanCyc Gene:HS05452, ModBase:P51805, NCBI Gene:55558, OMIM:300022, RefSeq DNA:NG_021298, RefSeq DNA:NT_167198, RefSeq Protein:NP_059984, RefSeq RNA:NM_017514, UniProtKB:P51805 No chrX 153686623 153701985 154458281 154473646 +PA162399757 91584 HGNC:9102 ENSG00000221866 plexin A4 PLXNA4 DKFZp434G0625PRO34003, FAYV2820, KIAA1550, PLXNA4A, PLXNA4B Yes No Ensembl:ENSG00000221866, GeneCard:PLXNA4, HGNC:HGNC:9102, NCBI Gene:91584, OMIM:604280, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001099013, RefSeq Protein:NP_065962, RefSeq Protein:NP_861440, RefSeq RNA:NM_001105543, RefSeq RNA:NM_020911, RefSeq RNA:NM_181775, UniProtKB:A4D1N6, UniProtKB:B7WNM6, UniProtKB:Q9HCM2 No chr7 131808091 132333447 132123332 132648688 +PA33429 5364 HGNC:9103 ENSG00000164050 plexin B1 PLXNB1 KIAA0407, PLXN5, SEP Yes No Comparative Toxicogenomics Database:5364, Ensembl:ENSG00000164050, GenAtlas:PLXNB1, GeneCard:PLXNB1, HGNC:HGNC:9103, HumanCyc Gene:HS08992, ModBase:O43157, NCBI Gene:5364, OMIM:601053, RefSeq DNA:NT_022517, RefSeq Protein:NP_001123554, RefSeq Protein:NP_002664, RefSeq RNA:NM_001130082, RefSeq RNA:NM_002673, UCSC Genome Browser:NM_002673, UniProtKB:O43157 No chr3 48445261 48471460 48403854 48430324 +PA33430 23654 HGNC:9104 ENSG00000196576 plexin B2 PLXNB2 ferroptosis-associated lncRNA KIAA0315, MM1, PLEXB2, lncFAL Yes No Ensembl:ENSG00000196576, GenAtlas:PLXNB2, GeneCard:PLXNB2, HGNC:HGNC:9104, ModBase:O15031, NCBI Gene:23654, OMIM:604293, RefSeq DNA:NT_011526, RefSeq Protein:NP_036533, RefSeq RNA:NM_012401, UCSC Genome Browser:NM_012401, UniProtKB:O15031 No chr22 50713408 50746062 50274979 50307637 +PA33431 5365 HGNC:9105 ENSG00000198753 plexin B3 PLXNB3 PLEXB3, PLEXR, PLXN6 Yes Yes Ensembl:ENSG00000198753, GenAtlas:PLXNB3, GeneCard:PLXNB3, HGNC:HGNC:9105, ModBase:Q9ULL4, NCBI Gene:5365, OMIM:300214, RefSeq DNA:NG_013255, RefSeq DNA:NT_167198, RefSeq Protein:NP_001156729, RefSeq Protein:NP_005384, RefSeq RNA:NM_001163257, RefSeq RNA:NM_005393, UCSC Genome Browser:NM_005393, UniProtKB:A8K920, UniProtKB:B7Z3E6, UniProtKB:Q9ULL4 No chrX 153029651 153044801 153764196 153779346 +PA33432 10154 HGNC:9106 ENSG00000136040 plexin C1 PLXNC1 CD232, VESPR Yes No Comparative Toxicogenomics Database:10154, Ensembl:ENSG00000136040, GenAtlas:PLXNC1, GeneCard:PLXNC1, HGNC:HGNC:9106, HumanCyc Gene:HS06106, ModBase:O60486, NCBI Gene:10154, OMIM:604259, RefSeq DNA:NT_029419, RefSeq Protein:NP_005752, RefSeq RNA:NM_005761, RefSeq RNA:NR_037687, UCSC Genome Browser:NM_005761, UniProtKB:O60486 No chr12 94542499 94701451 94148696 94307675 +PA128394602 23129 HGNC:9107 ENSG00000004399 plexin D1 PLXND1 KIAA0620 Yes No Comparative Toxicogenomics Database:23129, Ensembl:ENSG00000004399, GenAtlas:PLXND1, GeneCard:PLXND1, HGNC:HGNC:9107, ModBase:Q9Y4D7, NCBI Gene:23129, OMIM:604282, RefSeq DNA:NT_005612, RefSeq Protein:NP_055918, RefSeq RNA:NM_015103, UCSC Genome Browser:NM_015103, UniProtKB:Q9Y4D7 No chr3 129274056 129325582 129555213 129606739 +PA162399772 148811 HGNC:26518 ENSG00000162877 peptidase M20 domain containing 1 PM20D1 Cps1, FLJ32569 Yes No Ensembl:ENSG00000162877, GeneCard:PM20D1, HGNC:HGNC:26518, HumanCyc Gene:HS08747, ModBase:Q6GTS8, NCBI Gene:148811, RefSeq DNA:NT_004487, RefSeq Protein:NP_689704, RefSeq RNA:NM_152491, UniProtKB:Q6GTS8 No chr1 205797150 205819276 205813811 205850148 +PA162399803 135293 HGNC:21408 ENSG00000146281 peptidase M20 domain containing 2 PM20D2 β-alanyl-lysine dipeptidase, β-alanyl-lysine dipeptidase, ß-alanyl-lysine dipeptidase, β-alanyl-lysine dipeptidase ACY1L2, bA63L7.3 Yes No Ensembl:ENSG00000146281, GeneCard:PM20D2, HGNC:HGNC:21408, ModBase:Q8IYS1, NCBI Gene:135293, RefSeq DNA:NT_007299, RefSeq Protein:NP_001010853, RefSeq RNA:NM_001010853, UniProtKB:Q8IYS1 No chr6 89850047 89875288 89096879 89165569 +PA33434 5366 HGNC:9108 ENSG00000141682 phorbol-12-myristate-13-acetate-induced protein 1 PMAIP1 APR, NOXA Yes No Comparative Toxicogenomics Database:5366, Ensembl:ENSG00000141682, GenAtlas:PMAIP1, GeneCard:PMAIP1, HGNC:HGNC:9108, HumanCyc Gene:HS06863, NCBI Gene:5366, OMIM:604959, RefSeq DNA:NT_025028, RefSeq Protein:NP_066950, RefSeq RNA:NM_021127, UCSC Genome Browser:NM_021127, UniProtKB:Q13794, UniProtKB:Q8N589 No chr18 57567153 57571538 59899960 59904306 +PA33435 5367 HGNC:9109 ENSG00000183395 pro-melanin concentrating hormone PMCH pro-melanin-concentrating hormone MCH Yes Yes Comparative Toxicogenomics Database:5367, Ensembl:ENSG00000183395, GenAtlas:PMCH, GeneCard:PMCH, HGNC:HGNC:9109, NCBI Gene:5367, OMIM:176795, RefSeq DNA:NT_029419, RefSeq Protein:NP_002665, RefSeq RNA:NM_002674, UCSC Genome Browser:NM_002674, UniProtKB:P20382 No chr12 102590237 102591614 102196459 102199540 +PA33436 5369 HGNC:9110 ENSG00000168967 pro-melanin-concentrating hormone-like 1, pseudogene PMCHL1 Yes No Ensembl:ENSG00000168967, GenAtlas:PMCHL1, GeneCard:PMCHL1, HGNC:HGNC:9110, HumanCyc Gene:HS09859, NCBI Gene:5369, OMIM:176793, RefSeq DNA:NT_006576, RefSeq RNA:NR_003921, UCSC Genome Browser:NM_031887 No chr5 22142461 22152381 22142352 22152272 +PA33437 5370 HGNC:9111 ENSG00000169040 pro-melanin-concentrating hormone-like 2, pseudogene PMCHL2 Yes No Ensembl:ENSG00000169040, GenAtlas:PMCHL2, GeneCard:PMCHL2, HGNC:HGNC:9111, HumanCyc Gene:HS09871, NCBI Gene:5370, OMIM:176794, RefSeq DNA:NT_006713, RefSeq RNA:NR_003922, UCSC Genome Browser:NM_031888 No chr5 70671612 70681820 71375785 71385993 +PA35781 6490 HGNC:10880 ENSG00000185664 premelanosome protein PMEL D12S53E, HMB-45, HMB45, ME20, Pmel17, SI, SIL, SILV, gp100 Yes No Ensembl:ENSG00000185664, GenAtlas:SILV, GeneCard:SILV, HGNC:HGNC:10880, ModBase:P40967, NCBI Gene:6490, OMIM:155550, RefSeq DNA:NT_029419, RefSeq Protein:NP_001186982, RefSeq Protein:NP_001186983, RefSeq Protein:NP_008859, RefSeq RNA:NM_001200053, RefSeq RNA:NM_001200054, RefSeq RNA:NM_006928, UCSC Genome Browser:NM_006928, UniProtKB:P40967 No chr12 56347889 56360523 55954105 55966712 +PA162399822 56937 HGNC:14107 ENSG00000124225 prostate transmembrane protein, androgen induced 1 PMEPA1 solid tumor-associated 1, solid tumor-associated gene 1 STAG1, TMEPAI Yes No Ensembl:ENSG00000124225, GeneCard:PMEPA1, HGNC:HGNC:14107, HumanCyc Gene:HS04744, ModBase:Q969W9, NCBI Gene:56937, OMIM:606564, RefSeq DNA:NT_011362, RefSeq Protein:NP_064567, RefSeq Protein:NP_954638, RefSeq Protein:NP_954639, RefSeq Protein:NP_954640, RefSeq RNA:NM_020182, RefSeq RNA:NM_199169, RefSeq RNA:NM_199170, RefSeq RNA:NM_199171, UniProtKB:Q5JY37, UniProtKB:Q8NER4, UniProtKB:Q969W9 No chr20 56223448 56286592 57648392 57711536 +PA33438 11243 HGNC:9112 ENSG00000160783 polyamine modulated factor 1 PMF1 polyamine-modulated factor 1 Yes No Comparative Toxicogenomics Database:11243, Ensembl:ENSG00000160783, GenAtlas:PMF1, GeneCard:PMF1, HGNC:HGNC:9112, ModBase:Q8N4T6, NCBI Gene:11243, OMIM:609176, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186582, RefSeq Protein:NP_001186583, RefSeq Protein:NP_009152, RefSeq RNA:NM_001199653, RefSeq RNA:NM_001199654, RefSeq RNA:NM_007221, UCSC Genome Browser:NM_007221, UniProtKB:Q6P1K2, UniProtKB:Q6ZVE6 No chr1 156182779 156209868 156212988 156240077 +PA38464 83449 HGNC:17728 ENSG00000118557 polyamine modulated factor 1 binding protein 1 PMFBP1 Yes No Comparative Toxicogenomics Database:83449, Ensembl:ENSG00000118557, GenAtlas:PMFBP1, GeneCard:PMFBP1, HGNC:HGNC:17728, HumanCyc Gene:HS12920, ModBase:Q8TBY8, NCBI Gene:83449, RefSeq DNA:NT_010498, RefSeq Protein:NP_001153685, RefSeq Protein:NP_112583, RefSeq RNA:NM_001160213, RefSeq RNA:NM_031293, UCSC Genome Browser:NM_031293, UniProtKB:B3KVI9, UniProtKB:Q8TBY8 No chr16 72152996 72206349 72116696 72173908 +PA166181600 111216276 HGNC:53649 ENSG00000283758 PMIS2 transmembrane protein PMIS2 PMIS2, transmembrane protein IFITMD9 Yes No Ensembl:ENSG00000283758, HGNC:HGNC:53649, NCBI Gene:111216276 No 0 0 0 0 +PA33439 5371 HGNC:9113 ENSG00000140464 PML nuclear body scaffold PML promyelocytic leukemia MYL, RNF71, TRIM19 Yes No Comparative Toxicogenomics Database:5371, Ensembl:ENSG00000140464, GenAtlas:PML, GeneCard:PML, HGNC:HGNC:9113, HumanCyc Gene:HS06720, ModBase:P29590, NCBI Gene:5371, OMIM:102578, RefSeq DNA:NT_010194, RefSeq Protein:NP_002666, RefSeq Protein:NP_150241, RefSeq Protein:NP_150242, RefSeq Protein:NP_150243, RefSeq Protein:NP_150247, RefSeq Protein:NP_150249, RefSeq Protein:NP_150250, RefSeq Protein:NP_150252, RefSeq Protein:NP_150253, RefSeq RNA:NM_002675, RefSeq RNA:NM_033238, RefSeq RNA:NM_033239, RefSeq RNA:NM_033240, RefSeq RNA:NM_033244, RefSeq RNA:NM_033246, RefSeq RNA:NM_033247, RefSeq RNA:NM_033249, RefSeq RNA:NM_033250, UCSC Genome Browser:NM_002675, UniProtKB:P29590, UniProtKB:Q9BPW2, UniProtKB:Q9BZX6, UniProtKB:Q9BZX7, UniProtKB:Q9BZY0 No chr15 74287014 74340160 73994673 74047819 +PA33440 5372 HGNC:9114 ENSG00000100417 phosphomannomutase 1 PMM1 brain glucose-1,6-bisphosphatase Sec53 Yes No Comparative Toxicogenomics Database:5372, Ensembl:ENSG00000100417, GenAtlas:PMM1, GeneCard:PMM1, HGNC:HGNC:9114, HumanCyc Gene:HS02079, ModBase:Q92871, NCBI Gene:5372, OMIM:601786, RefSeq DNA:NT_011520, RefSeq Protein:NP_002667, RefSeq RNA:NM_002676, UCSC Genome Browser:NM_002676, UniProtKB:A8K003, UniProtKB:Q92871 No chr22 41972890 41985871 41576886 41589867 +PA33441 5373 HGNC:9115 ENSG00000140650 phosphomannomutase 2 PMM2 """Congenital disorder of glycosylation, type Ia"", ""mannose-6-phosphate isomerase"", ""phosphomannose isomerase 1""" CDG1, CDG1a, CDGS, PMI, PMI1 Yes No Comparative Toxicogenomics Database:5373, Ensembl:ENSG00000140650, GenAtlas:PMM2, GeneCard:PMM2, HGNC:HGNC:9115, HumanCyc Gene:HS06747, ModBase:O15305, NCBI Gene:5373, OMIM:212065, OMIM:601785, RefSeq DNA:NG_009209, RefSeq DNA:NT_010393, RefSeq Protein:NP_000294, RefSeq RNA:NM_000303, UCSC Genome Browser:NM_000303, UniProtKB:O15305 No chr16 8891670 8943194 8797813 8849337 +PA33442 390831 HGNC:9116 ENSG00000265038 phosphomannomutase 2 pseudogene 1 PMM2P1 Yes No Ensembl:ENSG00000265038, GenAtlas:PMM2P1, GeneCard:PMM2P1, HGNC:HGNC:9116, NCBI Gene:390831 No chr18 10636667 10637398 10636670 10637401 +PA33443 5375 HGNC:9117 ENSG00000147588 peripheral myelin protein 2 PMP2 FABP8, M-FABP, MP2 Yes No Ensembl:ENSG00000147588, GenAtlas:PMP2, GeneCard:PMP2, HGNC:HGNC:9117, HumanCyc Gene:HS07452, ModBase:P02689, NCBI Gene:5375, OMIM:170715, RefSeq DNA:NT_008183, RefSeq Protein:NP_002668, RefSeq RNA:NM_002677, UCSC Genome Browser:NM_002677, UniProtKB:P02689, UniProtKB:Q6FHL4 No chr8 82352561 82359719 81440326 81447484 +PA33444 5376 HGNC:9118 ENSG00000109099 peripheral myelin protein 22 PMP22 CMT1A, GAS-3, GAS3, HMSNIA, HNPP, Sp110 Yes No Comparative Toxicogenomics Database:5376, Ensembl:ENSG00000109099, GenAtlas:PMP22, GeneCard:PMP22, HGNC:HGNC:9118, HumanCyc Gene:HS03197, ModBase:Q01453, NCBI Gene:5376, OMIM:118220, OMIM:118300, OMIM:145900, OMIM:162500, OMIM:180800, OMIM:601097, RefSeq DNA:NG_007949, RefSeq DNA:NT_010718, RefSeq Protein:NP_000295, RefSeq Protein:NP_696996, RefSeq Protein:NP_696997, RefSeq RNA:NM_000304, RefSeq RNA:NM_153321, RefSeq RNA:NM_153322, UCSC Genome Browser:NM_000304, UniProtKB:Q01453, UniProtKB:Q6FH25 No chr17 15133094 15168674 15229777 15265357 +PA38629 23203 HGNC:18667 ENSG00000165688 peptidase, mitochondrial processing subunit alpha PMPCA """peptidase (mitochondrial processing) alpha"", ""peptidase, mitochondrial processing alpha subunit""" Alpha-MPP, CLA1, INPP5E, KIAA0123, MAS2, SCAR2 Yes No Ensembl:ENSG00000165688, GeneCard:PMPCA, HGNC:HGNC:18667, HumanCyc Gene:HS09270, ModBase:Q10713, NCBI Gene:23203, OMIM:613036, RefSeq DNA:NT_024000, RefSeq Protein:NP_055975, RefSeq RNA:NM_015160, UCSC Genome Browser:NM_015160, UniProtKB:Q10713, UniProtKB:Q5SXM9 No chr9 139305110 139318213 136410573 136423761 +PA33445 9512 HGNC:9119 ENSG00000105819 peptidase, mitochondrial processing subunit beta PMPCB """peptidase (mitochondrial processing) beta"", ""peptidase, mitochondrial processing beta subunit""" MAS1, MPPB, MPPP52, beta-MPP Yes No Comparative Toxicogenomics Database:9512, Ensembl:ENSG00000105819, GenAtlas:PMPCB, GeneCard:PMPCB, HGNC:HGNC:9119, HumanCyc Gene:HS02813, ModBase:O75439, NCBI Gene:9512, OMIM:603131, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_004270, RefSeq RNA:NM_004279, UCSC Genome Browser:NM_004279, UniProtKB:B3KM34, UniProtKB:O75439, UniProtKB:Q96CP5 No chr7 102937873 102970349 103297412 103329902 +PA33447 5378 HGNC:9121 ENSG00000064933 PMS1 homolog 1, mismatch repair system component PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) MLH2, PMSL1 Yes No Comparative Toxicogenomics Database:5378, Ensembl:ENSG00000064933, GenAtlas:PMS1, GeneCard:PMS1, HGNC:HGNC:9121, HumanCyc Gene:HS00821, ModBase:P54277, NCBI Gene:5378, OMIM:600258, RefSeq DNA:NG_008648, RefSeq DNA:NT_005403, RefSeq Protein:NP_000525, RefSeq Protein:NP_001121615, RefSeq Protein:NP_001121616, RefSeq RNA:NM_000534, RefSeq RNA:NM_001128143, RefSeq RNA:NM_001128144, UCSC Genome Browser:NM_000534, UniProtKB:P54277, UniProtKB:Q4VAL4, UniProtKB:Q5FBZ3, UniProtKB:Q5FBZ8 No chr2 190648710 190742355 189784085 189877629 +PA33448 5395 HGNC:9122 ENSG00000122512 PMS1 homolog 2, mismatch repair system component PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) HNPCC4, H_DJ0042M02.9, MLH4, PMS-2, PMSL2 Yes Yes Comparative Toxicogenomics Database:5395, Ensembl:ENSG00000122512, GenAtlas:PMS2, GeneCard:PMS2, HGNC:HGNC:9122, HumanCyc Gene:HS04571, ModBase:P54278, NCBI Gene:5395, OMIM:276300, OMIM:600259, RefSeq DNA:NG_008466, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000526, RefSeq RNA:NM_000535, RefSeq RNA:NR_003085, UCSC Genome Browser:NM_000535, UniProtKB:P54278 No chr7 6012870 6048737 5970925 6009106 +PA33449 5379 HGNC:9123 ENSG00000078319 postmeiotic segregation increased 2 pseudogene 1 PMS2P1 PMS2L13, PMS2L7, PMS3, PMS8, PMSR1, PMSR2 Yes No Ensembl:ENSG00000078319, GenAtlas:PMS2L1, GeneCard:PMS2P1, HGNC:HGNC:9123, NCBI Gene:5379, OMIM:605038, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_003613 No chr7 99918263 99933930 100320640 100336307 +PA33450 100288713 HGNC:9124 ENSG00000276840 postmeiotic segregation increased 2 pseudogene 10 PMS2P10 PMSR4 Yes No Ensembl:ENSG00000276840, GenAtlas:PMS2L10, GeneCard:PMS2P10, HGNC:HGNC:9124, NCBI Gene:100288713, RefSeq DNA:NG_023454, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:XP_001722149, RefSeq Protein:XP_002342778, RefSeq RNA:XM_001722097, RefSeq RNA:XM_002342737 No chr7 74925017 74928923 75324481 75327776 +PA33451 441263 HGNC:9125 ENSG00000241350 postmeiotic segregation increased 2 pseudogene 11 PMS2P11 PMSR6 Yes No Comparative Toxicogenomics Database:441263, Ensembl:ENSG00000241350, GenAtlas:PMS2L11, GeneCard:DTX2P1-UPK3BP1-PMS2P11, HGNC:HGNC:9125, ModBase:Q13670, NCBI Gene:441263, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_023383, UCSC Genome Browser:NM_002684 No chr7 76610139 76653078 76980822 77023761 +PA33452 392713 HGNC:13641 ENSG00000228546 postmeiotic segregation increased 2 pseudogene 12 PMS2P12 PMSL12 Yes No Ensembl:ENSG00000228546, GenAtlas:PMS2L12, GeneCard:PMS2P12, HGNC:HGNC:13641, NCBI Gene:392713, RefSeq DNA:NG_009900, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596 No chr7 101977726 101979560 102337315 102339139 +PA33453 5380 HGNC:9127 ENSG00000278416 postmeiotic segregation increased 2 pseudogene 2 PMS2P2 PMS4 Yes No Ensembl:ENSG00000278416, GenAtlas:PMS2L2, GeneCard:PMS2L2, HGNC:HGNC:9127, HumanCyc Gene:HS05965, ModBase:O95744, NCBI Gene:5380, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_003614, UCSC Genome Browser:NM_002679 No chr7 74973159 74988251 75343937 75358997 +PA33454 5387 HGNC:9128 ENSG00000127957 postmeiotic segregation increased 2 pseudogene 3 PMS2P3 PMS5, PMSR3 Yes No Ensembl:ENSG00000127957, GenAtlas:PMS2L3, GeneCard:PMS2P3, HGNC:HGNC:9128, HumanCyc Gene:HS05145, ModBase:Q13401, NCBI Gene:5387, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001003686, RefSeq Protein:NP_005386, RefSeq RNA:NM_001003686, RefSeq RNA:NM_005395, RefSeq RNA:NR_028059 No chr7 75137069 75157453 75507747 75528123 +PA33455 5382 HGNC:9129 ENSG00000067601 postmeiotic segregation increased 2 pseudogene 4 PMS2P4 PMS2 pseudogene PMS6 Yes No Ensembl:ENSG00000067601, GenAtlas:PMS2L4, GeneCard:PMS2P4, HGNC:HGNC:9129, HumanCyc Gene:HS00912, NCBI Gene:5382, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq RNA:NR_022007 No chr7 66741118 66767429 67276131 67302442 +PA33456 5383 HGNC:9130 ENSG00000123965 postmeiotic segregation increased 2 pseudogene 5 PMS2P5 MGC34222, PMS7 Yes No Ensembl:ENSG00000123965, GenAtlas:PMS2L5, GeneCard:PMS2P5, HGNC:HGNC:9130, HumanCyc Gene:HS04701, ModBase:A8MQ11, NCBI Gene:5383, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_777590, RefSeq RNA:NM_174930, RefSeq RNA:NR_027775, RefSeq RNA:NR_027776, RefSeq RNA:NR_027777, UCSC Genome Browser:NM_174930 No chr7 74306887 74336166 74890768 74921138 +PA33462 100101440 HGNC:33515 ENSG00000229018 postmeiotic segregation increased 2 pseudogene 7 PMS2P7 PMSR7 Yes No Ensembl:ENSG00000229018, GenAtlas:PMS2LP2, GeneCard:PMS2LP2, HGNC:HGNC:33515, NCBI Gene:100101440 No chr7 72476588 72483807 73006080 73016375 +PA33461 100132832 HGNC:9135 ENSG00000233448 postmeiotic segregation increased 2 pseudogene 9 PMS2P9 PMSR5 Yes No Ensembl:ENSG00000233448, GenAtlas:PMS2LP1, GeneCard:PMS2P9, HGNC:HGNC:9135, NCBI Gene:100132832 No chr7 76668797 76682355 77039480 77053038 +PA33465 10654 HGNC:9141 ENSG00000163344 phosphomevalonate kinase PMVK HUMPMKI, PMK, PMKA Yes No Comparative Toxicogenomics Database:10654, Ensembl:ENSG00000163344, GenAtlas:PMVK, GeneCard:PMVK, HGNC:HGNC:9141, HumanCyc Gene:HS08830, ModBase:Q15126, NCBI Gene:10654, OMIM:607622, RefSeq DNA:NT_004487, RefSeq Protein:NP_006547, RefSeq RNA:NM_006556, UCSC Genome Browser:NM_006556, UniProtKB:Q15126, UniProtKB:Q6FGV9 No chr1 154897208 154909484 154924732 154942650 +PA134988711 139728 HGNC:13415 ENSG00000130822 pregnancy up-regulated nonubiquitous CaM kinase PNCK pregnancy up-regulated non-ubiquitously expressed CaM kinase CaMK1b, MGC45419 Yes No Ensembl:ENSG00000130822, GeneCard:PNCK, HGNC:HGNC:13415, ModBase:Q6P2M8, NCBI Gene:139728, OMIM:300680, RefSeq DNA:NT_167198, RefSeq Protein:NP_001034671, RefSeq Protein:NP_001129212, RefSeq RNA:NM_001039582, RefSeq RNA:NM_001135740, UniProtKB:B4E1A6, UniProtKB:Q6P2M8 No chrX 152935188 152939816 153669723 153687568 +PA162402984 25957 HGNC:21222 ENSG00000132424 PNN interacting serine and arginine rich protein PNISR PNN-interacting serine/arginine-rich protein C6orf111, DKFZp564B0769, FLJ14752, SFRS18, SRrp130, bA98I9.2 Yes No Ensembl:ENSG00000132424, GeneCard:SFRS18, HGNC:HGNC:21222, HumanCyc Gene:HS13425, ModBase:Q8N2L1, NCBI Gene:25957, RefSeq DNA:NT_025741, RefSeq Protein:NP_056306, RefSeq Protein:NP_116259, RefSeq RNA:NM_015491, RefSeq RNA:NM_032870, UniProtKB:Q8TEZ9, UniProtKB:Q8TF01 No chr6 99846534 99873263 99398051 99425345 +PA33476 25953 HGNC:9153 ENSG00000127838 PNKD metallo-beta-lactamase domain containing PNKD """PNKD, MBL domain containing"", ""myofibrillogenesis regulator 1"", ""paroxysmal nonkinesigenic dyskinesia""" BRP17, DKFZp564N1362, DYT8, FKSG19, FPD1, KIAA1184, KIPP1184, MGC31943, MR-1, MR-1S, PDC, PKND1, TAHCCP2 Yes No Comparative Toxicogenomics Database:25953, Ensembl:ENSG00000127838, GenAtlas:PNKD, GeneCard:PNKD, HGNC:HGNC:9153, ModBase:Q8N490, NCBI Gene:25953, OMIM:118800, OMIM:609023, RefSeq DNA:NG_017060, RefSeq DNA:NT_005403, RefSeq Protein:NP_001070867, RefSeq Protein:NP_056303, RefSeq Protein:NP_072094, RefSeq RNA:NM_001077399, RefSeq RNA:NM_015488, RefSeq RNA:NM_022572, UniProtKB:Q8N490 No chr2 219135115 219211516 218270392 218346793 +PA33477 11284 HGNC:9154 ENSG00000039650 polynucleotide kinase 3'-phosphatase PNKP PNK Yes No Ensembl:ENSG00000039650, GenAtlas:PNKP, GeneCard:PNKP, HGNC:HGNC:9154, HumanCyc Gene:HS00544, ModBase:Q96T60, NCBI Gene:11284, OMIM:605610, OMIM:613402, RefSeq DNA:NT_011109, RefSeq Protein:NP_009185, RefSeq RNA:NM_007254, UCSC Genome Browser:NM_007254, UniProtKB:Q96T60 No chr19 50364460 50370840 49861203 49867565 +PA134892245 154197 HGNC:21185 ENSG00000146453 PARN like ribonuclease domain containing exonuclease 1 PNLDC1 """PARN like, ribonuclease domain containing 1"", ""poly(A)-specific ribonuclease (PARN)-like domain containing 1""" FLJ40240, Trimmer, dJ195P10.2 Yes No Ensembl:ENSG00000146453, GeneCard:PNLDC1, HGNC:HGNC:21185, HumanCyc Gene:HS14156, ModBase:Q8NA58, NCBI Gene:154197, RefSeq DNA:NT_025741, RefSeq Protein:NP_775787, RefSeq RNA:NM_173516, UniProtKB:Q8NA58 No chr6 160221281 160241736 159799453 159820704 +PA33478 5406 HGNC:9155 ENSG00000175535 pancreatic lipase PNLIP triacylglycerol lipase PL Yes No Comparative Toxicogenomics Database:5406, Ensembl:ENSG00000175535, GenAtlas:PNLIP, GeneCard:PNLIP, HGNC:HGNC:9155, ModBase:P16233, NCBI Gene:5406, OMIM:246600, RefSeq DNA:NG_023311, RefSeq DNA:NT_030059, RefSeq Protein:NP_000927, RefSeq RNA:NM_000936, UCSC Genome Browser:NM_000936, UniProtKB:P16233, UniProtKB:Q5VSQ2 No chr10 118305428 118327367 116545916 116567855 +PA33479 5407 HGNC:9156 ENSG00000187021 pancreatic lipase related protein 1 PNLIPRP1 pancreatic lipase-related protein 1 PLRP1 Yes No Comparative Toxicogenomics Database:5407, Ensembl:ENSG00000187021, GenAtlas:PNLIPRP1, GeneCard:PNLIPRP1, HGNC:HGNC:9156, HumanCyc Gene:HS10947, ModBase:P54315, NCBI Gene:5407, OMIM:604422, RefSeq DNA:NT_030059, RefSeq Protein:NP_006220, RefSeq RNA:NM_006229, UCSC Genome Browser:NM_006229, UniProtKB:P54315 No chr10 118350478 118368687 116590415 116609175 +PA33480 5408 HGNC:9157 ENSG00000266200 pancreatic lipase related protein 2 (gene/pseudogene) PNLIPRP2 pancreatic lipase-related protein 2 PLRP2 Yes No Comparative Toxicogenomics Database:5408, Ensembl:ENSG00000266200, GenAtlas:PNLIPRP2, GeneCard:PNLIPRP2, HGNC:HGNC:9157, HumanCyc Gene:HS09295, ModBase:P54317, NCBI Gene:5408, OMIM:604423, RefSeq DNA:NT_030059, RefSeq Protein:NP_005387, RefSeq RNA:NM_005396, UCSC Genome Browser:NM_005396, UniProtKB:P54317 No chr10 118380465 118404654 116620953 116645143 +PA134954941 119548 HGNC:23492 ENSG00000203837 pancreatic lipase related protein 3 PNLIPRP3 pancreatic lipase-related protein 3 Yes No Ensembl:ENSG00000203837, GeneCard:PNLIPRP3, HGNC:HGNC:23492, ModBase:Q17RR3, NCBI Gene:119548, RefSeq DNA:NT_030059, RefSeq Protein:NP_001011709, RefSeq RNA:NM_001011709, UniProtKB:Q17RR3 No chr10 118187424 118237469 116427879 116477961 +PA33481 9240 HGNC:9158 ENSG00000176903 PNMA family member 1 PNMA1 paraneoplastic Ma antigen 1 MA1 Yes No Comparative Toxicogenomics Database:9240, Ensembl:ENSG00000176903, GenAtlas:PNMA1, GeneCard:PNMA1, HGNC:HGNC:9158, HumanCyc Gene:HS11100, ModBase:Q8ND90, NCBI Gene:9240, OMIM:604010, RefSeq DNA:NT_026437, RefSeq Protein:NP_006020, RefSeq RNA:NM_006029, UCSC Genome Browser:NM_006029, UniProtKB:Q8ND90 No chr14 74178486 74181128 73711783 73714425 +PA33482 10687 HGNC:9159 ENSG00000240694 PNMA family member 2 PNMA2 paraneoplastic Ma antigen 2 MA2, RGAG2 Yes No Ensembl:ENSG00000240694, GenAtlas:PNMA2, GeneCard:PNMA2, HGNC:HGNC:9159, ModBase:Q9UL42, NCBI Gene:10687, OMIM:603970, RefSeq DNA:NT_167187, RefSeq Protein:NP_009188, RefSeq RNA:NM_007257, UCSC Genome Browser:NM_007257, UniProtKB:Q5U5Z3, UniProtKB:Q9UL42 No chr8 26362196 26371608 26504680 26513967 +PA38667 29944 HGNC:18742 ENSG00000183837 PNMA family member 3 PNMA3 paraneoplastic Ma antigen 3, paraneoplastic cancer-testis-brain antigen MA3, MA5, MGC132756, MGC132758 Yes No Ensembl:ENSG00000183837, GenAtlas:PNMA3, GeneCard:PNMA3, HGNC:HGNC:18742, ModBase:Q9UL41, NCBI Gene:29944, OMIM:300675, RefSeq DNA:NG_013256, RefSeq DNA:NT_167198, RefSeq Protein:NP_037496, RefSeq RNA:NM_013364, UCSC Genome Browser:NM_013364, UniProtKB:Q9UL41 No chrX 152224766 152228827 153056343 153060467 +PA38668 114824 HGNC:18743 ENSG00000198883 PNMA family member 5 PNMA5 paraneoplastic Ma antigen family member 5, paraneoplastic antigen family 5 KIAA1934 Yes No Ensembl:ENSG00000198883, GenAtlas:PNMA5, GeneCard:PNMA5, HGNC:HGNC:18743, ModBase:Q96PV4, NCBI Gene:114824, RefSeq DNA:NG_021341, RefSeq DNA:NT_167198, RefSeq Protein:NP_001096620, RefSeq Protein:NP_001096621, RefSeq Protein:NP_001171853, RefSeq Protein:NP_443158, RefSeq RNA:NM_001103150, RefSeq RNA:NM_001103151, RefSeq RNA:NM_001184924, RefSeq RNA:NM_052926, UCSC Genome Browser:NM_052926, UniProtKB:Q96PV4 No chrX 152157368 152162671 152988824 152994458 +PA134880085 84968 HGNC:28248 ENSG00000235961 PNMA family member 6A PNMA6A paraneoplastic Ma antigen family member 6A MGC15827, PNMA6C Yes No Ensembl:ENSG00000235961, GeneCard:PNMA6A, HGNC:HGNC:28248, HumanCyc Gene:HS16107, ModBase:Q96A40, NCBI Gene:84968, RefSeq DNA:NG_016372, RefSeq DNA:NT_167198, RefSeq Protein:NP_116271, RefSeq RNA:NM_032882, UniProtKB:P0C5W0 No chrX 152338301 152340107 153072414 153075019 +PA145148266 728513 HGNC:26681 ENSG00000268883 paraneoplastic Ma antigen family member 6B PNMA6B PNMA6D Yes No Ensembl:ENSG00000268883, GeneCard:PNMA6B, HGNC:HGNC:26681, ModBase:P0C5W0, NCBI Gene:728513, RefSeq DNA:NT_011726, RefSeq Protein:XP_001721403, RefSeq Protein:XP_003403628, RefSeq RNA:XM_001721351, RefSeq RNA:XM_003403580 No chrX 152341614 152343420 153075613 153077617 +PA166181601 649238 HGNC:50767 ENSG00000214897 PNMA family member 6E PNMA6E Yes No Ensembl:ENSG00000214897, HGNC:HGNC:50767, NCBI Gene:649238 No 0 0 0 0 +PA166181602 105373377 HGNC:53119 ENSG00000225110 PNMA family member 6F PNMA6F PNMA6BL Yes No Ensembl:ENSG00000225110, HGNC:HGNC:53119, NCBI Gene:105373377 No 0 0 0 0 +PA162399835 55228 HGNC:25578 ENSG00000182013 PNMA family member 8A PNMA8A paraneoplastic Ma antigen family-like 1 FLJ10781, KIAA1183L, PNMAL1 Yes No Ensembl:ENSG00000182013, GeneCard:PNMAL1, HGNC:HGNC:25578, ModBase:Q86V59, NCBI Gene:55228, RefSeq DNA:NT_011109, RefSeq Protein:NP_001096619, RefSeq Protein:NP_060685, RefSeq RNA:NM_001103149, RefSeq RNA:NM_018215, UniProtKB:Q86V59 No chr19 46969748 46974820 46466491 46471577 +PA162399847 57469 HGNC:29206 ENSG00000204851 PNMA family member 8B PNMA8B paraneoplastic Ma antigen family-like 2 KIAA1183, PNMAL2 Yes No Ensembl:ENSG00000204851, GeneCard:PNMAL2, HGNC:HGNC:29206, NCBI Gene:57469, RefSeq DNA:NT_011109, RefSeq Protein:NP_065760, RefSeq RNA:NM_020709, UniProtKB:Q9ULN7 No chr19 46994448 46999169 46491191 46495912 +PA166181603 110806277 HGNC:53427 ENSG00000277531 PNMA family member 8C PNMA8C Yes No Ensembl:ENSG00000277531, HGNC:HGNC:53427, NCBI Gene:110806277 No 0 0 0 0 +PA274 5409 HGNC:9160 ENSG00000141744 phenylethanolamine N-methyltransferase PNMT PENT Yes Yes Comparative Toxicogenomics Database:5409, Ensembl:ENSG00000141744, GenAtlas:PNMT, GeneCard:PNMT, HGNC:HGNC:9160, HumanCyc Gene:HS06868, ModBase:P11086, NCBI Gene:5409, OMIM:171190, RefSeq DNA:NT_010783, RefSeq Protein:NP_002677, RefSeq RNA:NM_002686, UCSC Genome Browser:NM_002686, UniProtKB:P11086 No chr17 37824234 37826728 39667981 39670475 +PA33484 5411 HGNC:9162 ENSG00000100941 pinin, desmosome associated protein PNN memA Yes No Comparative Toxicogenomics Database:5411, Ensembl:ENSG00000100941, GenAtlas:PNN, GeneCard:PNN, HGNC:HGNC:9162, HumanCyc Gene:HS02170, ModBase:Q9UQR9, NCBI Gene:5411, OMIM:603154, RefSeq DNA:NT_026437, RefSeq Protein:NP_002678, RefSeq RNA:NM_002687, UCSC Genome Browser:NM_002687, UniProtKB:Q9H307 No chr14 39644387 39652422 39175183 39183218 +PA162399854 56902 HGNC:32790 ENSG00000115946 partner of NOB1 homolog PNO1 RNA binding protein, partner of NOB1 homolog (S. cerevisiae) KHRBP1, RRP20 Yes No Ensembl:ENSG00000115946, GeneCard:PNO1, HGNC:HGNC:32790, HumanCyc Gene:HS03957, ModBase:Q9NRX1, NCBI Gene:56902, RefSeq DNA:NT_022184, RefSeq Protein:NP_064528, RefSeq RNA:NM_020143, UniProtKB:Q9NRX1 No chr2 68385005 68403091 68157873 68175959 +PA33485 5368 HGNC:9163 ENSG00000168081 prepronociceptin PNOC nocistatin, orphanin FQ N/OFQ, NOP, PPNOC Yes Yes Comparative Toxicogenomics Database:5368, Ensembl:ENSG00000168081, GenAtlas:PNOC, GeneCard:PNOC, HGNC:HGNC:9163, HumanCyc Gene:HS09692, NCBI Gene:5368, OMIM:601459, RefSeq DNA:NT_167187, RefSeq Protein:NP_006219, RefSeq RNA:NM_006228, UCSC Genome Browser:NM_006228, UniProtKB:Q13519, UniProtKB:Q6FH16 No chr8 28174562 28200872 28316979 28343355 +PA31694 4860 HGNC:7892 ENSG00000198805 purine nucleoside phosphorylase PNP NP, PUNP Yes No Comparative Toxicogenomics Database:4860, Ensembl:ENSG00000198805, GenAtlas:NP, GeneCard:NP, GeneCard:PNP, HGNC:HGNC:7892, HumanCyc Gene:HS02151, ModBase:P00491, NCBI Gene:4860, OMIM:164050, OMIM:613179, RefSeq DNA:NG_009631, RefSeq DNA:NT_026437, RefSeq Protein:NP_000261, RefSeq RNA:NM_000270, UCSC Genome Browser:NM_000270, UniProtKB:P00491 No chr14 20937538 20946165 20469379 20478006 +PA134887192 285848 HGNC:21246 ENSG00000180316 patatin like phospholipase domain containing 1 PNPLA1 patatin-like phospholipase domain containing 1 FLJ38755, dJ50J22.1 Yes No Ensembl:ENSG00000180316, GeneCard:PNPLA1, HGNC:HGNC:21246, HumanCyc Gene:HS11482, NCBI Gene:285848, OMIM:612121, RefSeq DNA:NT_007592, RefSeq Protein:NP_001139188, RefSeq Protein:NP_001139189, RefSeq Protein:NP_775947, RefSeq RNA:NM_001145716, RefSeq RNA:NM_001145717, RefSeq RNA:NM_173676, UniProtKB:B8XXQ3, UniProtKB:Q8N8W4 No chr6 36210945 36276372 36242523 36313955 +PA145148264 643773 HGNC:32928 ENSG00000230538 patatin-like phospholipase domain containing 10 pseudogene PNPLA10P Yes No Ensembl:ENSG00000230538, GeneCard:PNPLA10P, HGNC:HGNC:32928, NCBI Gene:643773, RefSeq DNA:NT_011786 No chrX 126524543 126526642 127390363 127392860 +PA134903083 57104 HGNC:30802 ENSG00000177666 patatin like phospholipase domain containing 2 PNPLA2 patatin-like phospholipase domain containing 2 ATGL, FP17548, TTS-2.2, desnutrin, iPLA2zeta Yes No Comparative Toxicogenomics Database:57104, Ensembl:ENSG00000177666, GeneCard:PNPLA2, HGNC:HGNC:30802, ModBase:Q96AD5, NCBI Gene:57104, OMIM:609059, OMIM:610717, RefSeq DNA:NG_023394, RefSeq DNA:NT_009237, RefSeq Protein:NP_065109, RefSeq RNA:NM_020376, UniProtKB:Q96AD5 No chr11 818901 825573 818895 825573 +PA38592 80339 HGNC:18590 ENSG00000100344 patatin like phospholipase domain containing 3 PNPLA3 patatin-like phospholipase domain containing 3 ADPN, C22orf20, FLJ22012, adiponutrin, dJ796I17.1, iPLA2epsilon Yes Yes Comparative Toxicogenomics Database:80339, Ensembl:ENSG00000100344, GenAtlas:PNPLA3, GeneCard:PNPLA3, HGNC:HGNC:18590, HumanCyc Gene:HS02050, ModBase:Q9NST1, NCBI Gene:80339, OMIM:609567, RefSeq DNA:NG_008631, RefSeq DNA:NT_011520, RefSeq Protein:NP_079501, RefSeq RNA:NM_025225, UCSC Genome Browser:NM_025225, UniProtKB:Q9NST1 No chr22 44319619 44343451 43923739 43947568 +PA134910531 8228 HGNC:24887 ENSG00000006757 patatin like phospholipase domain containing 4 PNPLA4 patatin-like phospholipase domain containing 4 DXS1283E, GS2, iPLA2eta Yes No Comparative Toxicogenomics Database:8228, Ensembl:ENSG00000006757, GeneCard:PNPLA4, HGNC:HGNC:24887, ModBase:P41247, NCBI Gene:8228, OMIM:300102, RefSeq DNA:NG_016624, RefSeq DNA:NT_167197, RefSeq Protein:NP_001135861, RefSeq Protein:NP_001166143, RefSeq Protein:NP_004641, RefSeq RNA:NM_001142389, RefSeq RNA:NM_001172672, RefSeq RNA:NM_004650, UniProtKB:B4E362, UniProtKB:P41247 No chrX 7866804 7895780 7898763 7928587 +PA134869344 150379 HGNC:24888 ENSG00000100341 patatin like phospholipase domain containing 5 PNPLA5 patatin-like phospholipase domain containing 5 GS2L, dJ388M5.4 Yes No Ensembl:ENSG00000100341, GeneCard:PNPLA5, HGNC:HGNC:24888, HumanCyc Gene:HS02048, ModBase:Q7Z6Z6, NCBI Gene:150379, OMIM:611589, RefSeq DNA:NT_011520, RefSeq Protein:NP_001171146, RefSeq Protein:NP_620169, RefSeq RNA:NM_001177675, RefSeq RNA:NM_138814, UniProtKB:Q7Z6Z6 No chr22 44275558 44287893 43879678 43892013 +PA145148268 10908 HGNC:16268 ENSG00000032444 patatin like phospholipase domain containing 6 PNPLA6 neuropathy target esterase, patatin-like phospholipase domain containing 6 NTE, SPG39, iPLA2delta, sws Yes No Comparative Toxicogenomics Database:10908, Ensembl:ENSG00000032444, GeneCard:PNPLA6, HGNC:HGNC:16268, HumanCyc Gene:HS00485, NCBI Gene:10908, OMIM:603197, OMIM:612020, RefSeq DNA:NG_013374, RefSeq DNA:NT_077812, RefSeq Protein:NP_001159583, RefSeq Protein:NP_001159584, RefSeq Protein:NP_001159585, RefSeq Protein:NP_001159586, RefSeq Protein:NP_006693, RefSeq RNA:NM_001166111, RefSeq RNA:NM_001166112, RefSeq RNA:NM_001166113, RefSeq RNA:NM_001166114, RefSeq RNA:NM_006702, UniProtKB:B4DFB9, UniProtKB:Q8IY17 No chr19 7599033 7626653 7534152 7561767 +PA134935962 375775 HGNC:24768 ENSG00000130653 patatin like phospholipase domain containing 7 PNPLA7 patatin-like phospholipase domain containing 7 C9orf111, FLJ31318, FLJ43070, FLJ44279, NTE-R1, NTEL1, RP11-48C7.2 Yes No Ensembl:ENSG00000130653, GeneCard:PNPLA7, HGNC:HGNC:24768, NCBI Gene:375775, OMIM:612122, RefSeq DNA:NT_024000, RefSeq Protein:NP_001092007, RefSeq Protein:NP_689499, RefSeq RNA:NM_001098537, RefSeq RNA:NM_152286, UniProtKB:Q6ZV29 No chr9 140354404 140445021 137459449 137550666 +PA145148236 50640 HGNC:28900 ENSG00000135241 patatin like phospholipase domain containing 8 PNPLA8 calcium-independent phospholipase A2-gamma, patatin-like phospholipase domain containing 8 IPLA2-2, IPLA2G, iPLA2gamma Yes No Comparative Toxicogenomics Database:50640, Ensembl:ENSG00000135241, GeneCard:PNPLA8, HGNC:HGNC:28900, HumanCyc Gene:HS11964, ModBase:Q9NP80, NCBI Gene:50640, OMIM:612123, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_056538, RefSeq RNA:NM_015723, UniProtKB:Q9NP80 No chr7 108110866 108168605 108470417 108528161 +PA134915565 55163 HGNC:30260 ENSG00000108439 pyridoxamine 5'-phosphate oxidase PNPO pyridoxal 5'-phosphate synthase PDXPO Yes No Comparative Toxicogenomics Database:55163, Ensembl:ENSG00000108439, GeneCard:PNPO, HGNC:HGNC:30260, HumanCyc Gene:HS03105, ModBase:Q9NVS9, NCBI Gene:55163, OMIM:603287, OMIM:610090, RefSeq DNA:NG_008744, RefSeq DNA:NT_010783, RefSeq Protein:NP_060599, RefSeq RNA:NM_018129, UniProtKB:Q9NVS9 No chr17 46018889 46026674 47941523 47949308 +PA134915354 87178 HGNC:23166 ENSG00000138035 polyribonucleotide nucleotidyltransferase 1 PNPT1 3'-5' RNA exonuclease, polynucleotide phosphorylase DFNB70, OLD35, PNPase, old-35 Yes Yes Comparative Toxicogenomics Database:87178, Ensembl:ENSG00000138035, GeneCard:PNPT1, HGNC:HGNC:23166, HumanCyc Gene:HS06440, ModBase:Q8TCS8, NCBI Gene:87178, OMIM:610316, RefSeq DNA:NT_022184, RefSeq Protein:NP_149100, RefSeq RNA:NM_033109, UniProtKB:Q8TCS8 No chr2 55861198 55921045 55634063 55693910 +PA33804 10957 HGNC:17278 ENSG00000146278 proline rich nuclear receptor coactivator 1 PNRC1 proline-rich nuclear receptor coactivator 1 B4-2, PROL2, PRR2 Yes No Comparative Toxicogenomics Database:10957, Ensembl:ENSG00000146278, GenAtlas:PNRC1, GeneCard:PNRC1, HGNC:HGNC:17278, HumanCyc Gene:HS07339, ModBase:Q12796, NCBI Gene:10957, OMIM:606714, RefSeq DNA:NT_007299, RefSeq Protein:NP_006804, RefSeq RNA:NM_006813, UCSC Genome Browser:NM_006813, UniProtKB:Q12796 No chr6 89790429 89794879 89080710 89085160 +PA134931421 55629 HGNC:23158 ENSG00000189266 proline rich nuclear receptor coactivator 2 PNRC2 proline-rich nuclear receptor coactivator 2 Yes No Ensembl:ENSG00000189266, GeneCard:PNRC2, HGNC:HGNC:23158, ModBase:Q9NPJ4, NCBI Gene:55629, OMIM:611882, RefSeq DNA:NT_004610, RefSeq DNA:NT_113878, RefSeq Protein:NP_060231, RefSeq Protein:XP_001713933, RefSeq RNA:NM_017761, RefSeq RNA:XM_001713881, UniProtKB:Q9NPJ4 No chr1 24286301 24289952 23959164 23963462 +PA165698089 25886 HGNC:24488 ENSG00000164087 POC1 centriolar protein A POC1A POC1 centriolar protein homolog A (Chlamydomonas) DKFZP434C245, WDR51A Yes No Ensembl:ENSG00000164087, GeneCard:POC1A, HGNC:HGNC:24488, HumanCyc Gene:HS15147, ModBase:Q8NBT0, NCBI Gene:25886, RefSeq DNA:NT_022517, RefSeq Protein:NP_001155052, RefSeq Protein:NP_001155053, RefSeq Protein:NP_056241, RefSeq RNA:NM_001161580, RefSeq RNA:NM_001161581, RefSeq RNA:NM_015426, UniProtKB:A4FUW4, UniProtKB:Q8NBT0 No chr3 52109249 52188720 52075233 52154690 +PA165513299 282809 HGNC:30836 ENSG00000139323 POC1 centriolar protein B POC1B POC1 centriolar protein homolog B (Chlamydomonas) FLJ14923, TUWD12, WDR51B Yes No Comparative Toxicogenomics Database:282809, Ensembl:ENSG00000139323, GeneCard:POC1B, HGNC:HGNC:30836, HumanCyc Gene:HS13772, ModBase:Q8TC44, NCBI Gene:282809, RefSeq DNA:NT_019546, RefSeq DNA:NT_029419, RefSeq Protein:NP_001186706, RefSeq Protein:NP_758440, RefSeq RNA:NM_001199777, RefSeq RNA:NM_172240, RefSeq RNA:NR_037659, RefSeq RNA:NR_037660, UniProtKB:A0MNP0, UniProtKB:Q8TC44 No chr12 89813495 89920039 89419718 89526262 +PA165660427 134359 HGNC:26658 ENSG00000152359 POC5 centriolar protein POC5 POC5 centriolar protein homolog (Chlamydomonas) C5orf37, FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5 Yes No Ensembl:ENSG00000152359, GeneCard:POC5, HGNC:HGNC:26658, HumanCyc Gene:HS14426, ModBase:Q8NA72, NCBI Gene:134359, RefSeq DNA:NT_006713, RefSeq DNA:NT_006713.14, RefSeq Protein:NP_001092741, RefSeq Protein:NP_689621, RefSeq RNA:NM_001099271, RefSeq RNA:NM_001099271.1, RefSeq RNA:NM_152408, RefSeq RNA:NM_152408.2, UniProtKB:Q8NA72 No chr5 74970023 75013313 75674198 75717488 +PA134980106 127435 HGNC:23174 ENSG00000174348 podocan PODN podocan proteoglycan MGC24995, PCAN, PODOCAN, SLRR5A Yes No Ensembl:ENSG00000174348, GeneCard:PODN, HGNC:HGNC:23174, HumanCyc Gene:HS16323, ModBase:Q7Z5L7, NCBI Gene:127435, OMIM:608661, RefSeq DNA:NT_032977, RefSeq Protein:NP_001186009, RefSeq Protein:NP_001186010, RefSeq Protein:NP_001186011, RefSeq Protein:NP_714914, RefSeq RNA:NM_001199080, RefSeq RNA:NM_001199081, RefSeq RNA:NM_001199082, RefSeq RNA:NM_153703, UniProtKB:Q7Z5L7 No chr1 53527724 53551174 53062052 53085502 +PA162399855 79883 HGNC:26275 ENSG00000132000 podocan like 1 PODNL1 podocan-like 1 FLJ23447, SLRR5B Yes No Ensembl:ENSG00000132000, GeneCard:PODNL1, HGNC:HGNC:26275, HumanCyc Gene:HS13408, ModBase:Q6PEZ8, NCBI Gene:79883, RefSeq DNA:NT_011295, RefSeq Protein:NP_001139726, RefSeq Protein:NP_001139727, RefSeq Protein:NP_079101, RefSeq RNA:NM_001146254, RefSeq RNA:NM_001146255, RefSeq RNA:NM_024825, UniProtKB:A8K3W6, UniProtKB:B7Z564, UniProtKB:Q6PEZ8 No chr19 14042000 14064204 13931187 13953392 +PA33493 5420 HGNC:9171 ENSG00000128567 podocalyxin like PODXL podocalyxin-like Gp200, PC, PCLP, PDX, PODXL1, gp135 Yes No Comparative Toxicogenomics Database:5420, Ensembl:ENSG00000128567, GenAtlas:PODXL, GeneCard:PODXL, HGNC:HGNC:9171, HumanCyc Gene:HS05196, ModBase:O00592, NCBI Gene:5420, OMIM:602632, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001018121, RefSeq Protein:NP_005388, RefSeq RNA:NM_001018111, RefSeq RNA:NM_005397, UCSC Genome Browser:NM_005397, UniProtKB:O00592, UniProtKB:Q96N83 No chr7 131185021 131241376 131500262 131556617 +PA134860950 50512 HGNC:17936 ENSG00000114631 podocalyxin like 2 PODXL2 endoglycan, podocalyxin-like 2 EG, PODLX2 Yes No Ensembl:ENSG00000114631, GeneCard:PODXL2, HGNC:HGNC:17936, HumanCyc Gene:HS03783, ModBase:Q9NZ53, NCBI Gene:50512, RefSeq DNA:NT_005612, RefSeq Protein:NP_056535, RefSeq RNA:NM_015720, UniProtKB:Q9NZ53 No chr3 127348002 127391653 127629159 127672810 +PA134937695 79983 HGNC:13711 ENSG00000124429 POF1B actin binding protein POF1B """POF1B, actin binding protein"", ""premature ovarian failure, 1B""" FLJ22792, POF Yes No Comparative Toxicogenomics Database:79983, Ensembl:ENSG00000124429, GeneCard:POF1B, HGNC:HGNC:13711, HumanCyc Gene:HS13128, ModBase:Q8WVV4, NCBI Gene:79983, OMIM:300603, OMIM:300604, RefSeq DNA:NG_016358, RefSeq DNA:NT_011651, RefSeq Protein:NP_079197, RefSeq RNA:NM_024921, UniProtKB:A8K2U5, UniProtKB:Q8WVV4 No chrX 84532395 84634748 85277389 85379743 +PA33495 23509 HGNC:14988 ENSG00000101346 protein O-fucosyltransferase 1 POFUT1 GDP-fucose protein O-fucosyltransferase 1, peptide-O-fucosyltransferase FUT12, KIAA0180, O-FUT, O-Fuc-T Yes No Comparative Toxicogenomics Database:23509, Ensembl:ENSG00000101346, GenAtlas:POFUT1, GeneCard:POFUT1, HGNC:HGNC:14988, HumanCyc Gene:HS02249, ModBase:Q9H488, NCBI Gene:23509, OMIM:607491, RefSeq DNA:NT_011362, RefSeq Protein:NP_056167, RefSeq Protein:NP_758436, RefSeq RNA:NM_015352, RefSeq RNA:NM_172236, UCSC Genome Browser:NM_015352, UniProtKB:Q9H488 No chr20 30795625 30826467 32207822 32238664 +PA25867 23275 HGNC:14683 ENSG00000186866 protein O-fucosyltransferase 2 POFUT2 GDP-fucose protein O-fucosyltransferase 2, peptide-O-fucosyltransferase C21orf80, FUT13, KIAA0958 Yes No Ensembl:ENSG00000186866, GenAtlas:POFUT2, GeneCard:POFUT2, HGNC:HGNC:14683, HumanCyc Gene:HS12371, ModBase:Q9Y2G5, NCBI Gene:23275, OMIM:610249, RefSeq DNA:NT_011515, RefSeq Protein:NP_056042, RefSeq Protein:NP_598368, RefSeq RNA:NM_015227, RefSeq RNA:NM_133635, RefSeq RNA:NR_004858, UCSC Genome Browser:NM_015227, UniProtKB:Q9Y2G5 No chr21 46683843 46707811 45263928 45287912 +PA38684 57645 HGNC:18800 ENSG00000143157 pogo transposable element derived with KRAB domain POGK KRAB box domain containing 2, pogo transposable element with KRAB domain BASS2, KIAA15131, KRBOX2, LST003 Yes No Comparative Toxicogenomics Database:57645, Ensembl:ENSG00000143157, GenAtlas:POGK, GeneCard:POGK, HGNC:HGNC:18800, HumanCyc Gene:HS06996, ModBase:Q9P215, NCBI Gene:57645, RefSeq DNA:NT_004487, RefSeq Protein:NP_060012, RefSeq RNA:NM_017542, UCSC Genome Browser:NM_017542, UniProtKB:Q5TIJ1, UniProtKB:Q9P215 No chr1 166808681 166823709 166839404 166856344 +PA162393771 56983 HGNC:22954 ENSG00000163389 protein O-glucosyltransferase 1 POGLUT1 KDELC family like 1 9630046K23Rik, C3orf9, KDELCL1, KTELC1, MDS010, MDSRP, MGC32995, Rumi, hCLP46 Yes No Ensembl:ENSG00000163389, GeneCard:KTELC1, HGNC:HGNC:22954, HumanCyc Gene:HS15055, NCBI Gene:56983, RefSeq DNA:NT_005612, RefSeq Protein:NP_689518, RefSeq RNA:NM_152305, RefSeq RNA:NR_024265, UniProtKB:Q8NBL1 No chr3 119187785 119213555 119468938 119494708 +PA134974174 79070 HGNC:19350 ENSG00000134901 protein O-glucosyltransferase 2 POGLUT2 KDEL (Lys-Asp-Glu-Leu) containing 1, KDEL motif containing 1 EP58, KDELC1, MGC5302 Yes No Comparative Toxicogenomics Database:79070, Ensembl:ENSG00000134901, GeneCard:KDELC1, HGNC:HGNC:19350, HumanCyc Gene:HS13551, ModBase:Q6UW63, NCBI Gene:79070, OMIM:611613, RefSeq DNA:NT_009952, RefSeq Protein:NP_076994, RefSeq RNA:NM_024089, UniProtKB:Q6UW63 No chr13 103436631 103451404 102784281 102799054 +PA134904072 143888 HGNC:28496 ENSG00000178202 protein O-glucosyltransferase 3 POGLUT3 KDEL (Lys-Asp-Glu-Leu) containing 2, KDEL motif containing 2 KDELC2, MGC33424 Yes No Comparative Toxicogenomics Database:143888, Ensembl:ENSG00000178202, GeneCard:KDELC2, HGNC:HGNC:28496, HumanCyc Gene:HS17013, ModBase:Q7Z4H8, NCBI Gene:143888, RefSeq DNA:NT_033899, RefSeq Protein:NP_714916, RefSeq RNA:NM_153705, UniProtKB:Q7Z4H8 No chr11 108342832 108369169 108472106 108498432 +PA38685 23126 HGNC:18801 ENSG00000143442 pogo transposable element derived with ZNF domain POGZ pogo transposable element with ZNF domain, putative protein product of Nbla00003, suppressor of hairy wing homolog 5, zinc finger protein 280E KIAA0461, SUHW5, ZNF280E, ZNF635, ZNF635m Yes No Ensembl:ENSG00000143442, GenAtlas:POGZ, GeneCard:POGZ, HGNC:HGNC:18801, HumanCyc Gene:HS07056, ModBase:Q9Y4X7, NCBI Gene:23126, RefSeq DNA:NT_004487, RefSeq Protein:NP_001181866, RefSeq Protein:NP_001181867, RefSeq Protein:NP_055915, RefSeq Protein:NP_665739, RefSeq Protein:NP_997054, RefSeq RNA:NM_001194937, RefSeq RNA:NM_001194938, RefSeq RNA:NM_015100, RefSeq RNA:NM_145796, RefSeq RNA:NM_207171, UCSC Genome Browser:NM_015100, UniProtKB:Q7Z3K3 No chr1 151375200 151445753 151402724 151459465 +PA162399856 5422 HGNC:9173 ENSG00000101868 DNA polymerase alpha 1, catalytic subunit POLA1 polymerase (DNA directed), alpha 1, catalytic subunit NSX, POLA, p180 Yes No Ensembl:ENSG00000101868, GeneCard:POLA1, HGNC:HGNC:9173, HumanCyc Gene:HS02310, ModBase:P09884, NCBI Gene:5422, OMIM:312040, RefSeq DNA:NG_016798, RefSeq DNA:NT_167197, RefSeq Protein:NP_058633, RefSeq RNA:NM_016937, UniProtKB:P09884 No chrX 24712038 25015103 24693833 24996986 +PA411 23649 HGNC:30073 ENSG00000014138 DNA polymerase alpha 2, accessory subunit POLA2 """DNA polymerase alpha 70 kDa subunit"", ""DNA polymerase alpha subunit B"", ""polymerase (DNA directed), alpha 2, accessory subunit""" FLJ21662 Yes Yes Comparative Toxicogenomics Database:23649, Ensembl:ENSG00000014138, GenAtlas:POLA2, GeneCard:POLA2, HGNC:HGNC:30073, HumanCyc Gene:HS00357, ModBase:Q14181, NCBI Gene:23649, RefSeq DNA:NT_167190, RefSeq Protein:NP_002680, RefSeq RNA:NM_002689, UCSC Genome Browser:NM_002689, UniProtKB:Q14181 No chr11 65029432 65065088 65261852 65306269 +PA276 5423 HGNC:9174 ENSG00000070501 DNA polymerase beta POLB polymerase (DNA directed), beta Yes No Comparative Toxicogenomics Database:5423, Ensembl:ENSG00000070501, GenAtlas:POLB, GeneCard:POLB, HGNC:HGNC:9174, HumanCyc Gene:HS00997, ModBase:P06746, NCBI Gene:5423, OMIM:174760, RefSeq DNA:NT_167187, RefSeq Protein:NP_002681, RefSeq RNA:NM_002690, UCSC Genome Browser:NM_002690, UniProtKB:P06746 No chr8 42195973 42229331 42338452 42371813 +PA33496 5424 HGNC:9175 ENSG00000062822 DNA polymerase delta 1, catalytic subunit POLD1 """CDC2 homolog (S. cerevisiae)"", ""polymerase (DNA directed), delta 1, catalytic subunit""" CDC2, POLD Yes No Comparative Toxicogenomics Database:5424, Ensembl:ENSG00000062822, GenAtlas:POLD1, GeneCard:POLD1, HGNC:HGNC:9175, HumanCyc Gene:HS00772, ModBase:P28340, NCBI Gene:5424, OMIM:174761, RefSeq DNA:NT_011109, RefSeq Protein:NP_002682, RefSeq RNA:NM_002691, UCSC Genome Browser:NM_002691, UniProtKB:P28340 No chr19 50887531 50921275 50384291 50418018 +PA33497 5425 HGNC:9176 ENSG00000106628 DNA polymerase delta 2, accessory subunit POLD2 """DNA polymerase delta subunit p50"", ""Pol delta B subunit (p50)"", ""polymerase (DNA directed), delta 2, accessory subunit""" Yes No Comparative Toxicogenomics Database:5425, Ensembl:ENSG00000106628, GenAtlas:POLD2, GeneCard:POLD2, HGNC:HGNC:9176, HumanCyc Gene:HS02933, ModBase:P49005, NCBI Gene:5425, OMIM:600815, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001120690, RefSeq Protein:NP_006221, RefSeq RNA:NM_001127218, RefSeq RNA:NM_006230, UCSC Genome Browser:NM_006230, UniProtKB:A4D2J4, UniProtKB:B2R5S4, UniProtKB:P49005 No chr7 44154279 44163267 44114680 44123668 +PA134868595 10714 HGNC:20932 ENSG00000077514 DNA polymerase delta 3, accessory subunit POLD3 """DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""polymerase (DNA-directed), delta 3, accessory subunit"", ""protein phosphatase 1, regulatory subunit 128""" KIAA0039, P66, P68, PPP1R128 Yes No Comparative Toxicogenomics Database:10714, Ensembl:ENSG00000077514, GeneCard:POLD3, HGNC:HGNC:20932, ModBase:Q15054, NCBI Gene:10714, OMIM:611415, RefSeq DNA:NT_167190, RefSeq Protein:NP_006582, RefSeq RNA:NM_006591, UniProtKB:Q15054 No chr11 74303575 74380386 74592530 74669341 +PA33498 57804 HGNC:14106 ENSG00000175482 DNA polymerase delta 4, accessory subunit POLD4 """DNA polymerase delta smallest subunit p12"", ""polymerase (DNA-directed), delta 4, accessory subunit""" POLDS, p12 Yes No Comparative Toxicogenomics Database:57804, Ensembl:ENSG00000175482, GenAtlas:POLD4, GeneCard:POLD4, HGNC:HGNC:14106, HumanCyc Gene:HS10936, NCBI Gene:57804, OMIM:611525, RefSeq DNA:NT_167190, RefSeq Protein:NP_066996, RefSeq RNA:NM_021173, UCSC Genome Browser:NM_021173, UniProtKB:Q6NSD7, UniProtKB:Q9BVB1, UniProtKB:Q9HCU8 No chr11 67118236 67121067 67350765 67353596 +PA134866227 26073 HGNC:23781 ENSG00000004142 DNA polymerase delta interacting protein 2 POLDIP2 polymerase (DNA-directed), delta interacting protein 2 DKFZP586F1524, PDIP38 Yes No Comparative Toxicogenomics Database:26073, Ensembl:ENSG00000004142, GeneCard:POLDIP2, HGNC:HGNC:23781, HumanCyc Gene:HS11994, ModBase:Q9Y2S7, NCBI Gene:26073, OMIM:611519, RefSeq DNA:NT_010799, RefSeq Protein:NP_056399, RefSeq RNA:NM_015584, UniProtKB:Q9Y2S7 No chr17 26673659 26684603 28346628 28357589 +PA134899124 84271 HGNC:23782 ENSG00000100227 DNA polymerase delta interacting protein 3 POLDIP3 """S6K1 Aly/REF-like target"", ""polymerase (DNA-directed), delta interacting protein 3""" KIAA1649, PDIP3, PDIP46, SKAR Yes No Comparative Toxicogenomics Database:84271, Ensembl:ENSG00000100227, GeneCard:POLDIP3, HGNC:HGNC:23782, ModBase:Q9BY77, NCBI Gene:84271, OMIM:611520, RefSeq DNA:NT_011520, RefSeq Protein:NP_115687, RefSeq Protein:NP_835237, RefSeq RNA:NM_032311, RefSeq RNA:NM_178136, UniProtKB:Q9BY77 No chr22 42979727 43010968 42583721 42614962 +PA277 5426 HGNC:9177 ENSG00000177084 DNA polymerase epsilon, catalytic subunit POLE """DNA polymerase epsilon catalytic subunit A"", ""polymerase (DNA directed), epsilon, catalytic subunit""" POLE1 Yes No Comparative Toxicogenomics Database:5426, Ensembl:ENSG00000177084, GenAtlas:POLE, GeneCard:POLE, HGNC:HGNC:9177, HumanCyc Gene:HS11124, ModBase:Q07864, NCBI Gene:5426, OMIM:174762, RefSeq DNA:NT_024477, RefSeq Protein:NP_006222, RefSeq RNA:NM_006231, UCSC Genome Browser:NM_006231, UniProtKB:Q07864 No chr12 133200344 133264050 132623762 132687524 +PA278 5427 HGNC:9178 ENSG00000100479 DNA polymerase epsilon 2, accessory subunit POLE2 """DNA polymerase epsilon subunit B"", ""polymerase (DNA directed), epsilon 2, accessory subunit""" DPE2 Yes No Comparative Toxicogenomics Database:5427, Ensembl:ENSG00000100479, GenAtlas:POLE2, GeneCard:POLE2, HGNC:HGNC:9178, HumanCyc Gene:HS02095, ModBase:P56282, NCBI Gene:5427, OMIM:602670, RefSeq DNA:NT_026437, RefSeq Protein:NP_001184259, RefSeq Protein:NP_001184260, RefSeq Protein:NP_002683, RefSeq RNA:NM_001197330, RefSeq RNA:NM_001197331, RefSeq RNA:NM_002692, UCSC Genome Browser:NM_002692, UniProtKB:P56282 No chr14 50110270 50155098 49643552 49688417 +PA33499 54107 HGNC:13546 ENSG00000148229 DNA polymerase epsilon 3, accessory subunit POLE3 """DNA polymerase epsilon p17 subunit"", ""arsenic transactivated protein"", ""chromatin accessibility complex 17"", ""chromatin accessibility complex subunit 2"", ""histone fold protein CHRAC17"", ""polymerase (DNA directed), epsilon 3, accessory subunit""" CHARAC17, CHRAC17, CHRAC2, Ybl1, p17 Yes No Comparative Toxicogenomics Database:54107, Ensembl:ENSG00000148229, GenAtlas:POLE3, GeneCard:POLE3, HGNC:HGNC:13546, HumanCyc Gene:HS07503, ModBase:Q9NRF9, NCBI Gene:54107, OMIM:607267, RefSeq DNA:NT_008470, RefSeq Protein:NP_059139, RefSeq RNA:NM_017443, RefSeq RNA:NR_027261, UCSC Genome Browser:NM_017443, UniProtKB:Q9NRF9 No chr9 116169515 116173029 113407235 113410749 +PA38677 56655 HGNC:18755 ENSG00000115350 DNA polymerase epsilon 4, accessory subunit POLE4 polymerase (DNA-directed), epsilon 4, accessory subunit p12 Yes No Comparative Toxicogenomics Database:56655, Ensembl:ENSG00000115350, GenAtlas:POLE4, GeneCard:POLE4, HGNC:HGNC:18755, HumanCyc Gene:HS03874, ModBase:Q9NR33, NCBI Gene:56655, OMIM:607269, RefSeq DNA:NT_022184, RefSeq Protein:NP_063949, RefSeq RNA:NM_019896, UCSC Genome Browser:NM_019896, UniProtKB:Q9NR33 No chr2 75185775 75196859 74958648 74969732 +PA33500 5428 HGNC:9179 ENSG00000140521 DNA polymerase gamma, catalytic subunit POLG polymerase (DNA directed), gamma POLG1, POLGA Yes Yes Comparative Toxicogenomics Database:5428, Ensembl:ENSG00000140521, GenAtlas:POLG, GeneCard:POLG, HGNC:HGNC:9179, HumanCyc Gene:HS06732, ModBase:P54098, NCBI Gene:5428, OMIM:157640, OMIM:174763, OMIM:203700, OMIM:258450, OMIM:603041, OMIM:607459, RefSeq DNA:NG_008218, RefSeq DNA:NT_010274, RefSeq Protein:NP_001119603, RefSeq Protein:NP_002684, RefSeq RNA:NM_001126131, RefSeq RNA:NM_002693, UCSC Genome Browser:NM_002693, UniProtKB:P54098 No chr15 89859536 89878026 89316305 89334795 +PA33501 11232 HGNC:9180 ENSG00000256525 DNA polymerase gamma 2, accessory subunit POLG2 polymerase (DNA directed), gamma 2, accessory subunit HP55, MTPOLB Yes No Comparative Toxicogenomics Database:11232, Ensembl:ENSG00000256525, GenAtlas:POLG2, GeneCard:POLG2, HGNC:HGNC:9180, HumanCyc Gene:HS06166, ModBase:Q9UHN1, NCBI Gene:11232, OMIM:604983, OMIM:610131, RefSeq DNA:NG_013029, RefSeq DNA:NT_010783, RefSeq Protein:NP_009146, RefSeq RNA:NM_007215, UCSC Genome Browser:NM_007215, UniProtKB:Q9UHN1 No chr17 62473902 62493184 64477785 64497066 +PA166352055 125316803 HGNC:56246 POLG alternative reading frame POLGARF ORF-Y Yes No HGNC:HGNC:56246, NCBI Gene:125316803 No 0 0 0 0 +PA279 5429 HGNC:9181 ENSG00000170734 DNA polymerase eta POLH polymerase (DNA directed), eta RAD30A, XP-V Yes No Comparative Toxicogenomics Database:5429, Ensembl:ENSG00000170734, GenAtlas:POLH, GeneCard:POLH, HGNC:HGNC:9181, HumanCyc Gene:HS10171, ModBase:Q9Y253, NCBI Gene:5429, OMIM:278750, OMIM:603968, RefSeq DNA:NG_009252, RefSeq DNA:NT_007592, RefSeq Protein:NP_006493, RefSeq RNA:NM_006502, UCSC Genome Browser:NM_006502, UniProtKB:Q9Y253 No chr6 43543878 43588260 43576141 43620523 +PA33502 11201 HGNC:9182 ENSG00000101751 DNA polymerase iota POLI polymerase (DNA directed) iota RAD30B, RAD3OB Yes No Comparative Toxicogenomics Database:11201, Ensembl:ENSG00000101751, GenAtlas:POLI, GeneCard:POLI, HGNC:HGNC:9182, HumanCyc Gene:HS02300, ModBase:Q9UNA4, NCBI Gene:11201, OMIM:605252, RefSeq DNA:NT_010966, RefSeq Protein:NP_009126, RefSeq RNA:NM_007195, UCSC Genome Browser:NM_007195, UniProtKB:Q9UNA4 No chr18 51795849 51837583 54269479 54321266 +PA33503 51426 HGNC:9183 ENSG00000122008 DNA polymerase kappa POLK DINB protein, DNA polymerase kappa, polymerase (DNA directed) kappa, polymerase (DNA-directed) kappa DINB1, DINP, POLQ Yes No Ensembl:ENSG00000122008, GenAtlas:POLK, GeneCard:POLK, HGNC:HGNC:9183, HumanCyc Gene:HS04538, ModBase:Q9UHC5, NCBI Gene:51426, OMIM:605650, RefSeq DNA:NT_006713, RefSeq Protein:NP_057302, RefSeq RNA:NM_016218, UCSC Genome Browser:NM_016218, UniProtKB:Q9UBT6 No chr5 74807657 74895646 75511832 75602576 +PA33504 27343 HGNC:9184 ENSG00000166169 DNA polymerase lambda POLL polymerase (DNA directed), lambda Yes No Comparative Toxicogenomics Database:27343, Ensembl:ENSG00000166169, GenAtlas:POLL, GeneCard:POLL, HGNC:HGNC:9184, HumanCyc Gene:HS09346, ModBase:Q9UGP5, NCBI Gene:27343, OMIM:606343, RefSeq DNA:NG_017063, RefSeq DNA:NT_030059, RefSeq Protein:NP_001167555, RefSeq Protein:NP_001167556, RefSeq Protein:NP_037406, RefSeq RNA:NM_001174084, RefSeq RNA:NM_001174085, RefSeq RNA:NM_013274, RefSeq RNA:NR_033406, UCSC Genome Browser:NM_013274, UniProtKB:A8K860, UniProtKB:Q9UGP5 No chr10 103338639 103348027 101578882 101588270 +PA33505 27434 HGNC:9185 ENSG00000122678 DNA polymerase mu POLM """Pol iota"", ""polymerase (DNA directed), mu""" Tdt-N Yes No Comparative Toxicogenomics Database:27434, Ensembl:ENSG00000122678, GenAtlas:POLM, GeneCard:POLM, HGNC:HGNC:9185, HumanCyc Gene:HS04587, ModBase:Q9NP87, NCBI Gene:27434, OMIM:606344, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_037416, RefSeq RNA:NM_013284, UCSC Genome Browser:NM_013284, UniProtKB:Q9NP87 No chr7 44111846 44122129 44072062 44082540 +PA134979866 353497 HGNC:18870 ENSG00000130997 DNA polymerase nu POLN polymerase (DNA directed) nu Yes No Ensembl:ENSG00000130997, GeneCard:POLN, HGNC:HGNC:18870, ModBase:Q7Z5Q5, NCBI Gene:353497, OMIM:610887, RefSeq DNA:NT_006051, RefSeq Protein:NP_861524, RefSeq RNA:NM_181808, UniProtKB:Q7Z5Q5 No chr4 2073645 2243848 2071958 2242164 +PA33506 10721 HGNC:9186 ENSG00000051341 DNA polymerase theta POLQ polymerase (DNA directed), theta POLH Yes No Ensembl:ENSG00000051341, GenAtlas:POLQ, GeneCard:POLQ, HGNC:HGNC:9186, HumanCyc Gene:HS00643, ModBase:O75417, NCBI Gene:10721, OMIM:604419, RefSeq DNA:NT_005612, RefSeq Protein:NP_955452, RefSeq RNA:NM_199420, UCSC Genome Browser:NM_006596, UniProtKB:Q59EE4, UniProtKB:Q6VMB5 No chr3 121150273 121264853 121431420 121546006 +PA134891380 25885 HGNC:17264 ENSG00000068654 RNA polymerase I subunit A POLR1A polymerase (RNA) I polypeptide A, 194kDa DKFZP586M0122, FLJ21915, RPA1, RPA190, RPO1-4 Yes No Ensembl:ENSG00000068654, GeneCard:POLR1A, HGNC:HGNC:17264, HumanCyc Gene:HS00940, ModBase:O95602, NCBI Gene:25885, RefSeq DNA:NT_022184, RefSeq Protein:NP_056240, RefSeq RNA:NM_015425, UniProtKB:O95602, UniProtKB:Q9H6T2 No chr2 86253451 86333278 86026328 86106155 +PA130601182 84172 HGNC:20454 ENSG00000125630 RNA polymerase I subunit B POLR1B polymerase (RNA) I polypeptide B, 128kDa FLJ10816, FLJ21921, RPA135, RPA2, Rpo1-2 Yes No Comparative Toxicogenomics Database:84172, Ensembl:ENSG00000125630, GeneCard:POLR1B, HGNC:HGNC:20454, HumanCyc Gene:HS04907, ModBase:Q9H9Y6, NCBI Gene:84172, OMIM:602000, RefSeq DNA:NT_022135, RefSeq Protein:NP_001131076, RefSeq Protein:NP_061887, RefSeq RNA:NM_001137604, RefSeq RNA:NM_019014, UCSC Genome Browser:NM_019014, UniProtKB:Q9H9Y6 No chr2 113298676 113334727 112541915 112577153 +PA134882004 9533 HGNC:20194 ENSG00000171453 RNA polymerase I and III subunit C POLR1C polymerase (RNA) I polypeptide C, 30kDa AC40, RPA39, RPA40, RPA5, RPAC1, RPC40 Yes No Comparative Toxicogenomics Database:9533, Ensembl:ENSG00000171453, GeneCard:POLR1C, HGNC:HGNC:20194, HumanCyc Gene:HS10309, ModBase:O15160, NCBI Gene:9533, OMIM:610060, RefSeq DNA:NT_007592, RefSeq Protein:NP_004866, RefSeq Protein:NP_976035, RefSeq RNA:NM_004875, RefSeq RNA:NM_203290, UniProtKB:O15160, UniProtKB:Q96HT3 No chr6 43484777 43497114 43517024 43562404 +PA134914527 51082 HGNC:20422 ENSG00000186184 RNA polymerase I and III subunit D POLR1D polymerase (RNA) I polypeptide D, 16kDa AC19, MGC9850, RPA16, RPA9, RPAC2, RPO1-3 Yes No Ensembl:ENSG00000186184, GeneCard:POLR1D, HGNC:HGNC:20422, HumanCyc Gene:HS04544, ModBase:Q9Y2S0, NCBI Gene:51082, RefSeq DNA:NT_024524, RefSeq Protein:NP_001193488, RefSeq Protein:NP_057056, RefSeq Protein:NP_689918, RefSeq RNA:NM_001206559, RefSeq RNA:NM_015972, RefSeq RNA:NM_152705, UniProtKB:Q9Y2S0 No chr13 28194880 28241559 27620743 27667422 +PA142671136 64425 HGNC:17631 ENSG00000137054 RNA polymerase I subunit E POLR1E """RNA polymerase I associated factor 53"", ""polymerase (RNA) I polypeptide E, 53kDa""" FLJ13390, FLJ13970, PAF53, PRAF1, RPA49 Yes No Comparative Toxicogenomics Database:64425, Ensembl:ENSG00000137054, GeneCard:POLR1E, HGNC:HGNC:17631, HumanCyc Gene:HS13656, NCBI Gene:64425, RefSeq DNA:NT_008413, RefSeq Protein:NP_071935, RefSeq RNA:NM_022490, UniProtKB:Q9GZS1 No chr9 37485945 37503694 37485935 37503697 +PA166352056 221830 HGNC:18027 RNA polymerase I subunit F POLR1F A43, RPA43, TWISTNB Yes No HGNC:HGNC:18027, NCBI Gene:221830 No 0 0 0 0 +PA142672156 10849 HGNC:24219 RNA polymerase I subunit G POLR1G """CD3 epsilon associated protein"", ""CD3e molecule associated protein"", ""CD3e molecule, epsilon associated protein"", ""antisense to ERCC 1""" A34.5, ASE-1, CAST, CD3EAP, PAF49, RPA34 Yes Yes Comparative Toxicogenomics Database:10849, GeneCard:CD3EAP, HGNC:HGNC:24219, HumanCyc Gene:HS04177, ModBase:O15446, NCBI Gene:10849, OMIM:107325, RefSeq DNA:NT_011109, RefSeq Protein:NP_036231, RefSeq RNA:NM_012099, UniProtKB:O15446 No chr19 45909467 45914024 45406129 45410766 +PA37754 30834 HGNC:13182 RNA polymerase I subunit H POLR1H zinc ribbon domain containing 1 A12.2, HTEX-6, RPA12, ZNRD1, hZR14, tctex-6 Yes No Comparative Toxicogenomics Database:30834, GenAtlas:ZNRD1, GeneCard:ZNRD1, HGNC:HGNC:13182, HumanCyc Gene:HS00875, ModBase:Q9P1U0, NCBI Gene:30834, OMIM:607525, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_055411, RefSeq Protein:NP_740753, RefSeq RNA:NM_014596, RefSeq RNA:NM_170783, UCSC Genome Browser:NM_014596, UniProtKB:Q2L6J2, UniProtKB:Q9P1U0 No chr6 30029017 30032686 30061240 30064909 +PA33507 5430 HGNC:9187 ENSG00000181222 RNA polymerase II subunit A POLR2A """DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"", ""polymerase (RNA) II (DNA directed) polypeptide A, 220kDa""" POLR2, POLRA, RPB1 Yes Yes Comparative Toxicogenomics Database:5430, Ensembl:ENSG00000181222, GenAtlas:POLR2A, GeneCard:POLR2A, HGNC:HGNC:9187, HumanCyc Gene:HS11591, ModBase:P24928, NCBI Gene:5430, OMIM:180660, RefSeq DNA:NT_010718, RefSeq Protein:NP_000928, RefSeq RNA:NM_000937, UCSC Genome Browser:NM_000937, UniProtKB:P24928 No chr17 7387698 7417935 7484379 7514618 +PA33508 5431 HGNC:9188 ENSG00000047315 RNA polymerase II subunit B POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa RPB2 Yes No Comparative Toxicogenomics Database:5431, Ensembl:ENSG00000047315, GenAtlas:POLR2B, GeneCard:POLR2B, HGNC:HGNC:9188, HumanCyc Gene:HS00587, ModBase:P30876, NCBI Gene:5431, OMIM:180661, RefSeq DNA:NT_022853, RefSeq Protein:NP_000929, RefSeq RNA:NM_000938, UCSC Genome Browser:NM_000938, UniProtKB:P30876 No chr4 57844944 57897334 56978640 57031162 +PA33509 5432 HGNC:9189 ENSG00000102978 RNA polymerase II subunit C POLR2C """RNA polymerase II subunit 3"", ""polymerase (RNA) II (DNA directed) polypeptide C, 33kDa""" RPB3 Yes No Comparative Toxicogenomics Database:5432, Ensembl:ENSG00000102978, GenAtlas:POLR2C, GeneCard:POLR2C, HGNC:HGNC:9189, HumanCyc Gene:HS02437, ModBase:P19387, NCBI Gene:5432, OMIM:180663, RefSeq DNA:NT_010498, RefSeq Protein:NP_116558, RefSeq RNA:NM_032940, UCSC Genome Browser:NM_002694, UniProtKB:P19387, UniProtKB:Q6FGR6 No chr16 57496551 57505921 57462639 57472009 +PA33511 5433 HGNC:9191 ENSG00000144231 RNA polymerase II subunit D POLR2D RNA polymerase II subunit hsRBP4, RNA polymerase II subunit hsRPB4, polymerase (RNA) II (DNA directed) polypeptide D RBP4, RPB4 Yes No Ensembl:ENSG00000144231, GenAtlas:POLR2D, GeneCard:POLR2D, HGNC:HGNC:9191, HumanCyc Gene:HS07161, ModBase:O15514, NCBI Gene:5433, OMIM:606017, RefSeq DNA:NT_022135, RefSeq Protein:NP_004796, RefSeq RNA:NM_004805, UCSC Genome Browser:NM_004805, UniProtKB:O15514 No chr2 128603840 128615729 127846266 127858155 +PA33512 5434 HGNC:9192 ENSG00000099817 RNA polymerase II, I and III subunit E POLR2E """DNA directed RNA polymerase II 23 kda polypeptide"", ""RNA polymerase II subunit E"", ""polymerase (RNA) II (DNA directed) polypeptide E, 25kDa""" RPABC1, RPB5, XAP4, hRPB25, hsRPB5 Yes No Comparative Toxicogenomics Database:5434, Ensembl:ENSG00000099817, GenAtlas:POLR2E, GeneCard:POLR2E, HGNC:HGNC:9192, HumanCyc Gene:HS01914, ModBase:P19388, NCBI Gene:5434, OMIM:180664, RefSeq DNA:NT_011255, RefSeq Protein:NP_002686, RefSeq RNA:NM_002695, UCSC Genome Browser:NM_002695, UniProtKB:P19388 No chr19 1086578 1095391 1086579 1095392 +PA33513 5435 HGNC:9193 ENSG00000100142 RNA polymerase II, I and III subunit F POLR2F DNA directed RNA polymerase II 14.4 kda polypeptide, RNA polymerase II subunit F, polymerase (RNA) II (DNA directed) polypeptide F HRBP14.4, RPB6 Yes No Comparative Toxicogenomics Database:5435, Ensembl:ENSG00000100142, GenAtlas:POLR2F, GeneCard:POLR2F, HGNC:HGNC:9193, HumanCyc Gene:HS01986, ModBase:P61218, NCBI Gene:5435, OMIM:604414, RefSeq DNA:NT_011520, RefSeq Protein:NP_068809, RefSeq RNA:NM_021974, UCSC Genome Browser:NM_021974, UniProtKB:P61218 No chr22 38349674 38368463 37953663 38041915 +PA33514 5436 HGNC:9194 ENSG00000168002 RNA polymerase II subunit G POLR2G polymerase (RNA) II (DNA directed) polypeptide G RPB7, hRPB19, hsRPB7 Yes No Comparative Toxicogenomics Database:5436, Ensembl:ENSG00000168002, GenAtlas:POLR2G, GeneCard:POLR2G, HGNC:HGNC:9194, HumanCyc Gene:HS09678, ModBase:P62487, NCBI Gene:5436, OMIM:602013, RefSeq DNA:NT_167190, RefSeq Protein:NP_002687, RefSeq RNA:NM_002696, UCSC Genome Browser:NM_002696, UniProtKB:P62487 No chr11 62529011 62534187 62761539 62766715 +PA33515 5437 HGNC:9195 ENSG00000163882 RNA polymerase II, I and III subunit H POLR2H RNA polymerase II subunit H, polymerase (RNA) II (DNA directed) polypeptide H RPB8 Yes No Comparative Toxicogenomics Database:5437, Ensembl:ENSG00000163882, GenAtlas:POLR2H, GeneCard:POLR2H, HGNC:HGNC:9195, HumanCyc Gene:HS08959, ModBase:P52434, NCBI Gene:5437, OMIM:606023, RefSeq DNA:NT_005612, RefSeq Protein:NP_006223, RefSeq RNA:NM_006232, UCSC Genome Browser:NM_006232, UniProtKB:P52434 No chr3 184079502 184086383 184361710 184368595 +PA33516 5438 HGNC:9196 ENSG00000105258 RNA polymerase II subunit I POLR2I polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa RPB9, hRPB14.5 Yes No Comparative Toxicogenomics Database:5438, Ensembl:ENSG00000105258, GenAtlas:POLR2I, GeneCard:POLR2I, HGNC:HGNC:9196, HumanCyc Gene:HS02703, ModBase:P36954, NCBI Gene:5438, OMIM:180662, RefSeq DNA:NT_011109, RefSeq Protein:NP_006224, RefSeq RNA:NM_006233, UCSC Genome Browser:NM_006233, UniProtKB:P36954 No chr19 36604611 36606206 36113709 36115304 +PA33517 5439 HGNC:9197 ENSG00000005075 RNA polymerase II subunit J POLR2J polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa POLR2J1, RPB11, RPB11A, RPB11m, hRPB14 Yes No Comparative Toxicogenomics Database:5439, Ensembl:ENSG00000005075, GenAtlas:POLR2J, GeneCard:POLR2J, HGNC:HGNC:9197, HumanCyc Gene:HS00127, ModBase:P52435, NCBI Gene:5439, OMIM:604150, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_006225, RefSeq RNA:NM_006234, UCSC Genome Browser:NM_006234, UniProtKB:P52435 No chr7 102113547 102119446 102473100 102478999 +PA164724655 246721 HGNC:23208 ENSG00000228049 RNA polymerase II subunit J2 POLR2J2 polymerase (RNA) II (DNA directed) polypeptide J2 RPB11b1 Yes No Ensembl:ENSG00000228049, GeneCard:POLR2J2, HGNC:HGNC:23208, HumanCyc Gene:HS10712, NCBI Gene:246721, OMIM:609881, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_116581, RefSeq RNA:NM_032959, UniProtKB:Q9GZM3 No chr7 102277195 102312176 102636748 102671729 +PA164724678 548644 HGNC:33853 ENSG00000168255 RNA polymerase II subunit J3 POLR2J3 polymerase (RNA) II (DNA directed) polypeptide J3 Yes No Ensembl:ENSG00000168255, GeneCard:POLR2J3, HGNC:HGNC:33853, NCBI Gene:548644, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001091084, RefSeq RNA:NM_001097615, UniProtKB:Q9H1A7 No chr7 102178365 102213107 102537919 102572660 +PA33518 5440 HGNC:9198 ENSG00000147669 RNA polymerase II, I and III subunit K POLR2K """RNA polymerase II subunit K"", ""polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa""" RPB10alpha, RPB12 Yes No Ensembl:ENSG00000147669, GenAtlas:POLR2K, GeneCard:POLR2K, HGNC:HGNC:9198, HumanCyc Gene:HS07463, ModBase:P53803, NCBI Gene:5440, OMIM:606033, RefSeq DNA:NT_008046, RefSeq Protein:NP_005025, RefSeq RNA:NM_005034, UCSC Genome Browser:NM_005034, UniProtKB:P53803 No chr8 101162839 101166230 100150611 100154002 +PA33519 5441 HGNC:9199 ENSG00000177700 RNA polymerase II, I and III subunit L POLR2L """RNA polymerase II subunit L"", ""polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa""" RBP10, RPABC5, RPB10beta, RPB7.6, hRPB7.6, hsRPB10b Yes No Comparative Toxicogenomics Database:5441, Ensembl:ENSG00000177700, GenAtlas:POLR2L, GeneCard:POLR2L, HGNC:HGNC:9199, HumanCyc Gene:HS11206, ModBase:P62875, NCBI Gene:5441, OMIM:601189, RefSeq DNA:NT_009237, RefSeq Protein:NP_066951, RefSeq RNA:NM_021128, UCSC Genome Browser:NM_021128, UniProtKB:P62875 No chr11 839721 842529 839721 842529 +PA28986 81488 HGNC:14862 ENSG00000255529 RNA polymerase II subunit M POLR2M polymerase (RNA) II (DNA directed) polypeptide M GCOM1, GRINL1A, Gdown, Gdown1 Yes No Ensembl:ENSG00000255529, GenAtlas:GRINL1A, GeneCard:GRINL1A, HGNC:HGNC:14862, HumanCyc Gene:HS06418, ModBase:Q96JB7, NCBI Gene:81488, OMIM:606485, RefSeq DNA:NT_010194, RefSeq Protein:NP_001018112, RefSeq Protein:NP_056347, RefSeq RNA:NM_001018102, RefSeq RNA:NM_015532, RefSeq RNA:NR_027390, UCSC Genome Browser:NM_015532, UniProtKB:P0CAP1, UniProtKB:P0CAP2, UniProtKB:Q6EEV4 No chr15 57998901 58009753 57706521 57717557 +PA134900426 11128 HGNC:30074 ENSG00000148606 RNA polymerase III subunit A POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa C160, RPC1, RPC155, hRPC155 Yes No Comparative Toxicogenomics Database:11128, Ensembl:ENSG00000148606, GeneCard:POLR3A, HGNC:HGNC:30074, HumanCyc Gene:HS07543, ModBase:O14802, NCBI Gene:11128, RefSeq DNA:NT_030059, RefSeq Protein:NP_008986, RefSeq RNA:NM_007055, UniProtKB:O14802 No chr10 79734907 79789298 77975149 78029540 +PA134867680 55703 HGNC:30348 ENSG00000013503 RNA polymerase III subunit B POLR3B polymerase (RNA) III (DNA directed) polypeptide B C128, FLJ10388, RPC2 Yes No Ensembl:ENSG00000013503, GeneCard:POLR3B, HGNC:HGNC:30348, HumanCyc Gene:HS12049, ModBase:Q9NW08, NCBI Gene:55703, RefSeq DNA:NT_029419, RefSeq Protein:NP_001154180, RefSeq Protein:NP_060552, RefSeq RNA:NM_001160708, RefSeq RNA:NM_018082, UniProtKB:B3KV73, UniProtKB:Q7Z3R8, UniProtKB:Q9NW08 No chr12 106751436 106903976 106357658 106510198 +PA134870963 10623 HGNC:30076 ENSG00000186141 RNA polymerase III subunit C POLR3C polymerase (RNA) III (DNA directed) polypeptide C (62kD) C82, RPC3, RPC62 Yes No Ensembl:ENSG00000186141, GeneCard:POLR3C, HGNC:HGNC:30076, HumanCyc Gene:HS05568, ModBase:Q9BUI4, NCBI Gene:10623, RefSeq DNA:NT_167185, RefSeq Protein:NP_006459, RefSeq RNA:NM_006468, UniProtKB:Q9BUI4 No chr1 145592605 145610972 145823183 145844402 +PA25390 661 HGNC:1080 ENSG00000168495 RNA polymerase III subunit D POLR3D polymerase (RNA) III (DNA directed) polypeptide D, 44kDa BN51T, C53, RPC4, TSBN51 Yes No Comparative Toxicogenomics Database:661, Ensembl:ENSG00000168495, GeneCard:POLR3D, HGNC:HGNC:1080, HumanCyc Gene:HS09773, ModBase:P05423, NCBI Gene:661, OMIM:187280, RefSeq DNA:NT_167187, RefSeq Protein:NP_001713, RefSeq RNA:NM_001722, UCSC Genome Browser:NM_001722, UniProtKB:P05423 No chr8 22102619 22108680 22245104 22251167 +PA134964025 55718 HGNC:30347 ENSG00000058600 RNA polymerase III subunit E POLR3E polymerase (RNA) III (DNA directed) polypeptide E (80kD) C37, FLJ10509, RPC5, SIN Yes No Comparative Toxicogenomics Database:55718, Ensembl:ENSG00000058600, GeneCard:POLR3E, HGNC:HGNC:30347, HumanCyc Gene:HS12148, ModBase:Q9NVU0, NCBI Gene:55718, RefSeq DNA:NT_010393, RefSeq Protein:NP_060589, RefSeq RNA:NM_018119, UniProtKB:Q9NVU0 No chr16 22308696 22346424 22297366 22335103 +PA33520 10621 HGNC:15763 ENSG00000132664 RNA polymerase III subunit F POLR3F """RNA polymerase III C39 subunit"", ""polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa""" C34, RPC39, RPC6 Yes No Comparative Toxicogenomics Database:10621, Ensembl:ENSG00000132664, GenAtlas:POLR3F, GeneCard:POLR3F, HGNC:HGNC:15763, HumanCyc Gene:HS05669, ModBase:Q9H1D9, NCBI Gene:10621, RefSeq DNA:NT_011387, RefSeq Protein:NP_006457, RefSeq RNA:NM_006466, UCSC Genome Browser:NM_006466, UniProtKB:Q9H1D9 No chr20 18448033 18465287 18467389 18484648 +PA134986024 10622 HGNC:30075 ENSG00000113356 RNA polymerase III subunit G POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) C31, RPC32, RPC7 Yes Yes Ensembl:ENSG00000113356, GeneCard:POLR3G, HGNC:HGNC:30075, HumanCyc Gene:HS03673, ModBase:O15318, NCBI Gene:10622, RefSeq DNA:NT_006713, RefSeq Protein:NP_006458, RefSeq RNA:NM_006467, UniProtKB:O15318 No chr5 89769876 89810474 90473929 90514557 +PA134921690 84265 HGNC:28466 ENSG00000121851 RNA polymerase III subunit GL POLR3GL RNA polymerase III subunit G like, polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like MGC3200, flj32422 Yes No Comparative Toxicogenomics Database:84265, Ensembl:ENSG00000121851, GeneCard:POLR3GL, HGNC:HGNC:28466, HumanCyc Gene:HS13028, ModBase:Q9BT43, NCBI Gene:84265, RefSeq DNA:NT_167185, RefSeq Protein:NP_115681, RefSeq RNA:NM_032305, UniProtKB:Q9BT43 No chr1 145456236 145476081 145959037 145978848 +PA134994174 171568 HGNC:30349 ENSG00000100413 RNA polymerase III subunit H POLR3H polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) C25, KIAA1665, RPC8 Yes No Ensembl:ENSG00000100413, GeneCard:POLR3H, HGNC:HGNC:30349, HumanCyc Gene:HS12408, ModBase:Q9Y535, NCBI Gene:171568, RefSeq DNA:NT_011520, RefSeq Protein:NP_001018060, RefSeq Protein:NP_001018062, RefSeq Protein:NP_612211, RefSeq RNA:NM_001018050, RefSeq RNA:NM_001018052, RefSeq RNA:NM_138338, UniProtKB:Q6ZPA8, UniProtKB:Q9Y535 No chr22 41921803 41940479 41525799 41544606 +PA33521 51728 HGNC:14121 ENSG00000161980 RNA polymerase III subunit K POLR3K polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa C11, RPC11 Yes No Comparative Toxicogenomics Database:51728, Ensembl:ENSG00000161980, GenAtlas:POLR3K, GeneCard:POLR3K, HGNC:HGNC:14121, HumanCyc Gene:HS08632, ModBase:Q9Y2Y1, NCBI Gene:51728, OMIM:606007, RefSeq DNA:NT_010393, RefSeq Protein:NP_057394, RefSeq RNA:NM_016310, UCSC Genome Browser:NM_016310, UniProtKB:Q9Y2Y1 No chr16 96979 103632 46979 53632 +PA33522 5442 HGNC:9200 ENSG00000099821 RNA polymerase mitochondrial POLRMT polymerase (RNA) mitochondrial (DNA directed) APOLMT, MTRNAP, MTRPOL, h-mtRPOL Yes No Ensembl:ENSG00000099821, GenAtlas:POLRMT, GeneCard:POLRMT, HGNC:HGNC:9200, HumanCyc Gene:HS01915, ModBase:O00411, NCBI Gene:5442, OMIM:601778, RefSeq DNA:NG_023049, RefSeq DNA:NT_011255, RefSeq Protein:NP_005026, RefSeq RNA:NM_005035, UCSC Genome Browser:NM_005035, UniProtKB:O00411, UniProtKB:Q4G0F4 No chr19 617223 633665 617221 633592 +PA142671160 284167 HGNC:28865 ENSG00000266066 polymerase (RNA) mitochondrial (DNA directed) pseudogene 1 POLRMTP1 Yes No Ensembl:ENSG00000266066, HGNC:HGNC:28865, NCBI Gene:284167, RefSeq DNA:NG_011773, RefSeq DNA:NT_010783, RefSeq RNA:XR_017049, RefSeq RNA:XR_019047, RefSeq RNA:XR_037756 No chr17 60214284 60218000 62136923 62140639 +PA134987951 9883 HGNC:19702 ENSG00000196313 POM121 transmembrane nucleoporin POM121 DKFZP586G1822, DKFZP586P2220, KIAA0618, POM121A Yes No Comparative Toxicogenomics Database:9883, Ensembl:ENSG00000196313, GeneCard:POM121, HGNC:HGNC:19702, NCBI Gene:9883, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_742017, RefSeq RNA:NM_172020, UniProtKB:Q96HA1, UniProtKB:Q9Y6I0 No chr7 72349906 72421979 72879335 72951440 +PA162399935 100101267 HGNC:34005 ENSG00000272391 POM121 transmembrane nucleoporin C POM121C Yes No Ensembl:ENSG00000272391, GeneCard:POM121C, HGNC:HGNC:34005, NCBI Gene:100101267, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001092885, RefSeq RNA:NM_001099415 No chr7 75046060 75115565 75416781 75486288 +PA165618224 285877 HGNC:25369 ENSG00000221900 POM121 transmembrane nucleoporin like 12 POM121L12 POM121 transmembrane nucleoporin-like 12 DKFZp564N2472 Yes No Ensembl:ENSG00000221900, GeneCard:POM121L12, HGNC:HGNC:25369, NCBI Gene:285877, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_872401, RefSeq RNA:NM_182595 No chr7 53103349 53104618 53035656 53036925 +PA38140 25812 HGNC:16439 ENSG00000183169 POM121 transmembrane nucleoporin-like 1, pseudogene POM121L1P POM121-like 2 Yes No Ensembl:ENSG00000183169, GenAtlas:POM121L1, GeneCard:POM121L1P, HGNC:HGNC:16439, NCBI Gene:25812, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520, RefSeq RNA:NR_024591, UCSC Genome Browser:NM_014348 No chr22 22974028 22987012 22631557 22644541 +PA33524 94026 HGNC:13973 ENSG00000158553 POM121 transmembrane nucleoporin like 2 POM121L2 POM121 transmembrane nucleoporin-like 2 POM121-L Yes Yes Ensembl:ENSG00000158553, GenAtlas:POM121L2, GeneCard:POM121L2, HGNC:HGNC:13973, HumanCyc Gene:HS14725, NCBI Gene:94026, RefSeq DNA:NG_008890, RefSeq DNA:NT_007592, RefSeq Protein:NP_258443, RefSeq RNA:NM_033482, UCSC Genome Browser:NM_033482, UniProtKB:C9J1I7 No chr6 27276842 27280011 27309063 27312232 +PA134919038 266697 HGNC:19326 ENSG00000217261 POM121 transmembrane nucleoporin-like 4 pseudogene POM121L4P Yes No Ensembl:ENSG00000217261, GeneCard:POM121L4P, HGNC:HGNC:19326, NCBI Gene:266697, RefSeq DNA:NT_011520, RefSeq RNA:NR_024592 No chr22 21043843 21046009 20689555 20691721 +PA134988228 729392 HGNC:31343 ENSG00000243307 POM121 transmembrane nucleoporin-like 6 pseudogene POM121L6P bA239L20.2 Yes No Ensembl:ENSG00000243307, GeneCard:POM121L6P, HGNC:HGNC:31343, NCBI Gene:729392, RefSeq DNA:NG_008948, RefSeq DNA:NT_007592, RefSeq RNA:XR_132515 No chr6 26838446 26865940 26870667 26898161 +PA33526 5443 HGNC:9201 ENSG00000115138 proopiomelanocortin POMC adrenocorticotropic hormone, adrenocorticotropin, alpha-melanocyte stimulating hormone, beta-endorphin, beta-lipotropin, beta-melanocyte stimulating hormone, opiomelanocortin prepropeptide ACTH, CLIP, LPH, MSH, NPP, POC Yes Yes Comparative Toxicogenomics Database:5443, Ensembl:ENSG00000115138, GenAtlas:POMC, GeneCard:POMC, HGNC:HGNC:9201, HumanCyc Gene:HS03838, NCBI Gene:5443, OMIM:176830, OMIM:601665, OMIM:609734, RefSeq DNA:NG_008997, RefSeq DNA:NT_022184, RefSeq Protein:NP_000930, RefSeq Protein:NP_001030333, RefSeq RNA:NM_000939, RefSeq RNA:NM_001035256, UCSC Genome Browser:NM_000939, UniProtKB:P01189, UniProtKB:Q53T23, UniProtKB:Q6FHC8 No chr2 25383722 25391559 25160853 25168851 +PA142671161 55624 HGNC:19139 ENSG00000085998 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) POMGNT1 """protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"", ""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase""" FLJ20277, LGMD2O, MEB, MGAT1.2 Yes No Comparative Toxicogenomics Database:55624, Ensembl:ENSG00000085998, GeneCard:POMGNT1, HGNC:HGNC:19139, HumanCyc Gene:HS01515, ModBase:Q8WZA1, NCBI Gene:55624, OMIM:253280, OMIM:606822, RefSeq DNA:NG_009205, RefSeq DNA:NT_032977, RefSeq Protein:NP_060209, RefSeq RNA:NM_017739, RefSeq RNA:NR_024332, UniProtKB:Q8WZA1 No chr1 46654353 46685977 46188681 46220305 +PA142672374 84892 HGNC:25902 ENSG00000144647 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) POMGNT2 """glycosyltransferase-like domain containing 2"", ""protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2""" AGO61, C3orf39, FLJ14566, GTDC2 Yes No Ensembl:ENSG00000144647, GeneCard:C3orf39, HGNC:HGNC:25902, HumanCyc Gene:HS14042, ModBase:Q8NAT1, NCBI Gene:84892, RefSeq DNA:NT_022517, RefSeq Protein:NP_116195, RefSeq RNA:NM_032806, UniProtKB:Q8NAT1 No chr3 43120721 43147575 43079229 43106092 +PA166123723 84197 HGNC:26267 ENSG00000185900 protein O-mannose kinase POMK protein-O-mannose kinase FLJ23356, SgK196 Yes No Ensembl:ENSG00000185900, HGNC:HGNC:26267, NCBI Gene:84197 No +PA134898606 51371 HGNC:20330 ENSG00000132963 proteasome maturation protein POMP proteassemblin C13orf12, HSPC014, UMP1 Yes No Comparative Toxicogenomics Database:51371, Ensembl:ENSG00000132963, GeneCard:POMP, HGNC:HGNC:20330, HumanCyc Gene:HS13456, NCBI Gene:51371, OMIM:601952, OMIM:613386, RefSeq DNA:NT_024524, RefSeq Protein:NP_057016, RefSeq RNA:NM_015932, UniProtKB:Q9Y244 No chr13 29233141 29253094 28659004 28678957 +PA33527 10585 HGNC:9202 ENSG00000130714 protein O-mannosyltransferase 1 POMT1 dolichyl-phosphate-mannose-protein mannosyltransferase, protein-O-mannosyltransferase 1 LGMD2K Yes No Comparative Toxicogenomics Database:10585, Ensembl:ENSG00000130714, GenAtlas:POMT1, GeneCard:POMT1, HGNC:HGNC:9202, HumanCyc Gene:HS05428, ModBase:Q9UNT2, NCBI Gene:10585, OMIM:236670, OMIM:607423, OMIM:609308, RefSeq DNA:NG_008896, RefSeq DNA:NT_035014, RefSeq Protein:NP_001070833, RefSeq Protein:NP_001070834, RefSeq Protein:NP_001129585, RefSeq Protein:NP_001129586, RefSeq Protein:NP_009102, RefSeq RNA:NM_001077365, RefSeq RNA:NM_001077366, RefSeq RNA:NM_001136113, RefSeq RNA:NM_001136114, RefSeq RNA:NM_007171, UCSC Genome Browser:NM_007171, UniProtKB:B4DIF0, UniProtKB:Q9Y6A1 No chr9 134378282 134399193 131502895 131523806 +PA134980627 29954 HGNC:19743 ENSG00000009830 protein O-mannosyltransferase 2 POMT2 Dolichyl-phosphate-mannose--protein mannosyltransferase, protein-O-mannosyltransferase 2 LGMD2N Yes Yes Comparative Toxicogenomics Database:29954, Ensembl:ENSG00000009830, GeneCard:POMT2, HGNC:HGNC:19743, HumanCyc Gene:HS00268, ModBase:Q9UKY4, NCBI Gene:29954, OMIM:236670, OMIM:607439, RefSeq DNA:NG_008897, RefSeq DNA:NT_026437, RefSeq Protein:NP_037514, RefSeq RNA:NM_013382, UniProtKB:Q9UKY4 No chr14 77741299 77787225 77274956 77320885 +PA33528 22932 HGNC:9203 ENSG00000146707 POM121 and ZP3 fusion POMZP3 POM-ZP3 fusion protein, POM121/ZP3 fusion protein POM-ZP3, POM121 Yes No Ensembl:ENSG00000146707, GenAtlas:POMZP3, GeneCard:POMZP3, HGNC:HGNC:9203, HumanCyc Gene:HS07367, NCBI Gene:22932, OMIM:600587, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_036362, RefSeq Protein:NP_694537, RefSeq RNA:NM_012230, RefSeq RNA:NM_152992, UCSC Genome Browser:NM_012230 No chr7 76239303 76256620 76609986 76627303 +PA33529 5444 HGNC:9204 ENSG00000005421 paraoxonase 1 PON1 arylesterase 1, esterase A ESA, PON Yes Yes Comparative Toxicogenomics Database:5444, Ensembl:ENSG00000005421, GenAtlas:PON1, GeneCard:PON1, HGNC:HGNC:9204, HumanCyc Gene:HS00141, ModBase:P27169, NCBI Gene:5444, OMIM:168820, OMIM:612633, RefSeq DNA:NG_008779, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000437, RefSeq RNA:NM_000446, UCSC Genome Browser:NM_000446, UniProtKB:P27169 No chr7 94927669 94953884 95298357 95324572 +PA33530 5445 HGNC:9205 ENSG00000105854 paraoxonase 2 PON2 arylesterase 2, paraoxonase nirs Yes Yes Comparative Toxicogenomics Database:5445, Ensembl:ENSG00000105854, GenAtlas:PON2, GeneCard:PON2, HGNC:HGNC:9205, HumanCyc Gene:HS02820, ModBase:Q15165, NCBI Gene:5445, OMIM:602447, RefSeq DNA:NG_008725, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000296, RefSeq Protein:NP_001018171, RefSeq RNA:NM_000305, RefSeq RNA:NM_001018161, UCSC Genome Browser:NM_000305, UniProtKB:A4D1H7, UniProtKB:Q15165 No chr7 95034174 95064636 95404862 95435072 +PA33531 5446 HGNC:9206 ENSG00000105852 paraoxonase 3 PON3 arylesterase 3 Yes No Comparative Toxicogenomics Database:5446, Ensembl:ENSG00000105852, GenAtlas:PON3, GeneCard:PON3, HGNC:HGNC:9206, HumanCyc Gene:HS02819, ModBase:Q15166, NCBI Gene:5446, OMIM:602720, RefSeq DNA:NG_008726, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_000931, RefSeq RNA:NM_000940, UCSC Genome Browser:NM_000940, UniProtKB:Q15166 No chr7 94989181 95025702 95359872 95396375 +PA134907403 10940 HGNC:30129 ENSG00000104356 POP1 homolog, ribonuclease P/MRP subunit POP1 """processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)"", ""processing of precursors 1""" Yes No Ensembl:ENSG00000104356, GeneCard:POP1, HGNC:HGNC:30129, HumanCyc Gene:HS02570, NCBI Gene:10940, OMIM:602486, RefSeq DNA:NT_008046, RefSeq Protein:NP_001139332, RefSeq Protein:NP_001139333, RefSeq Protein:NP_055844, RefSeq RNA:NM_001145860, RefSeq RNA:NM_001145861, RefSeq RNA:NM_015029, UniProtKB:Q96F88, UniProtKB:Q99575 No chr8 99129521 99172069 98117293 98159841 +PA134987921 10775 HGNC:30081 ENSG00000105171 POP4 homolog, ribonuclease P/MRP subunit POP4 processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) RPP29 Yes No Comparative Toxicogenomics Database:10775, Ensembl:ENSG00000105171, GeneCard:POP4, HGNC:HGNC:30081, HumanCyc Gene:HS02683, ModBase:O95707, NCBI Gene:10775, OMIM:606114, RefSeq DNA:NT_011109, RefSeq Protein:NP_006618, RefSeq RNA:NM_006627, RefSeq RNA:NR_027368, UniProtKB:O95707 No chr19 30097170 30108162 29606263 29617255 +PA128394660 51367 HGNC:17689 ENSG00000167272 POP5 homolog, ribonuclease P/MRP subunit POP5 processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) Yes No Comparative Toxicogenomics Database:51367, Ensembl:ENSG00000167272, GeneCard:POP5, HGNC:HGNC:17689, HumanCyc Gene:HS15540, ModBase:Q969H6, NCBI Gene:51367, OMIM:609992, RefSeq DNA:NT_009775, RefSeq Protein:NP_057002, RefSeq Protein:NP_937845, RefSeq RNA:NM_015918, RefSeq RNA:NM_198202, UCSC Genome Browser:NM_015918, UniProtKB:A6NL80, UniProtKB:Q969H6 No chr12 121016848 121019201 120579045 120581452 +PA134887425 10248 HGNC:19949 ENSG00000172336 POP7 homolog, ribonuclease P/MRP subunit POP7 """processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)"", ""ribonuclease P protein subunit p20""" RPP2, RPP20 Yes No Comparative Toxicogenomics Database:10248, Ensembl:ENSG00000172336, GeneCard:POP7, HGNC:HGNC:19949, HumanCyc Gene:HS10492, ModBase:O75817, NCBI Gene:10248, OMIM:606113, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_005828, RefSeq RNA:NM_005837, UniProtKB:O75817 No chr7 100303676 100305123 100706053 100707500 +PA25469 11149 HGNC:1152 ENSG00000112276 popeye domain cAMP effector 1 POPDC1 blood vessel epicardial substance, popeye domain containing 1 BVES, HBVES, POP1, POPDC1 Yes No Ensembl:ENSG00000112276, GenAtlas:BVES, GeneCard:BVES, HGNC:HGNC:1152, HumanCyc Gene:HS03545, ModBase:Q8NE79, NCBI Gene:11149, OMIM:604577, RefSeq DNA:NT_025741, RefSeq Protein:NP_001186492, RefSeq Protein:NP_009004, RefSeq Protein:NP_671488, RefSeq RNA:NM_001199563, RefSeq RNA:NM_007073, RefSeq RNA:NM_147147, UCSC Genome Browser:NM_007073, UniProtKB:Q8NE79 No chr6 105544697 105585049 105096822 105137174 +PA134982197 64091 HGNC:17648 ENSG00000121577 popeye domain cAMP effector 2 POPDC2 popeye domain containing 2 POP2 Yes No Comparative Toxicogenomics Database:64091, Ensembl:ENSG00000121577, GeneCard:POPDC2, HGNC:HGNC:17648, HumanCyc Gene:HS04503, ModBase:Q9HBU9, NCBI Gene:64091, OMIM:605823, RefSeq DNA:NT_005612, RefSeq Protein:NP_071418, RefSeq RNA:NM_022135, UniProtKB:Q9HBU9 No chr3 119360899 119379437 119642052 119660590 +PA134935151 64208 HGNC:17649 ENSG00000132429 popeye domain cAMP effector 3 POPDC3 popeye domain containing 3 MGC22671, POP3, bA355M14.1 Yes No Ensembl:ENSG00000132429, GeneCard:POPDC3, HGNC:HGNC:17649, HumanCyc Gene:HS13426, ModBase:Q9HBV1, NCBI Gene:64208, OMIM:605824, RefSeq DNA:NT_025741, RefSeq Protein:NP_071756, RefSeq RNA:NM_022361, RefSeq RNA:NR_024539, UniProtKB:Q9HBV1 No chr6 105605775 105627858 105157900 105179983 +PA33532 5447 HGNC:9208 ENSG00000127948 cytochrome p450 oxidoreductase POR NADPH--hemoprotein reductase, P450 (cytochrome) oxidoreductase CYPOR, FLJ26468 Yes Yes Comparative Toxicogenomics Database:5447, Ensembl:ENSG00000127948, GenAtlas:POR, GeneCard:POR, HGNC:HGNC:9208, HumanCyc Gene:HS05140, ModBase:P16435, NCBI Gene:5447, OMIM:124015, OMIM:201750, RefSeq DNA:NG_008930, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001382342, RefSeq RNA:NM_001395413, UCSC Genome Browser:NM_000941, UniProtKB:P16435 No chr7 75544420 75616173 75915102 75986855 +PA134906089 64840 HGNC:17652 ENSG00000102312 porcupine O-acyltransferase PORCN porcupine homolog (Drosophila) DHOF, MG61, PORC, PPN, por Yes No Comparative Toxicogenomics Database:64840, Ensembl:ENSG00000102312, GeneCard:PORCN, HGNC:HGNC:17652, HumanCyc Gene:HS12478, ModBase:Q9H237, NCBI Gene:64840, OMIM:300651, OMIM:305600, RefSeq DNA:NG_009278, RefSeq DNA:NT_079573, RefSeq Protein:NP_073736, RefSeq Protein:NP_982299, RefSeq Protein:NP_982300, RefSeq Protein:NP_982301, RefSeq Protein:NP_982302, RefSeq RNA:NM_022825, RefSeq RNA:NM_203473, RefSeq RNA:NM_203474, RefSeq RNA:NM_203475, RefSeq RNA:NM_203476, UniProtKB:B3KQ96, UniProtKB:B7ZAR3, UniProtKB:Q9H237 No chrX 48367347 48379202 48508954 48520814 +PA134900304 10631 HGNC:16953 ENSG00000133110 periostin POSTN """osteoblast specific factor 2"", ""periostin, osteoblast specific factor""" OSF-2, PN, periostin Yes No Comparative Toxicogenomics Database:10631, Ensembl:ENSG00000133110, GeneCard:POSTN, HGNC:HGNC:16953, HumanCyc Gene:HS05735, ModBase:Q15063, NCBI Gene:10631, OMIM:608777, RefSeq DNA:NT_024524, RefSeq Protein:NP_001129406, RefSeq Protein:NP_001129407, RefSeq Protein:NP_001129408, RefSeq Protein:NP_006466, RefSeq RNA:NM_001135934, RefSeq RNA:NM_001135935, RefSeq RNA:NM_001135936, RefSeq RNA:NM_006475, UniProtKB:Q15063 No chr13 38136719 38172981 37562582 37598844 +PA134934904 25913 HGNC:17284 ENSG00000128513 protection of telomeres 1 POT1 DKFZp586D211, hPot1 Yes No Comparative Toxicogenomics Database:25913, Ensembl:ENSG00000128513, GeneCard:POT1, HGNC:HGNC:17284, HumanCyc Gene:HS13262, ModBase:Q9NUX5, NCBI Gene:25913, OMIM:606478, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001036059, RefSeq Protein:NP_056265, RefSeq RNA:NM_001042594, RefSeq RNA:NM_015450, RefSeq RNA:NR_003102, RefSeq RNA:NR_003103, RefSeq RNA:NR_003104, UniProtKB:A8MTK3, UniProtKB:Q5MJ33, UniProtKB:Q9NUX5 No chr7 124462440 124570037 124822386 124929983 +PA164724701 340441 HGNC:33893 ENSG00000188877 POTE ankyrin domain family member A (gene/pseudogene) POTEA """POTE ankyrin domain family member A"", ""POTE ankyrin domain family, member A"", ""cancer/testis antigen family 104, member 3""" A26A1, CT104.3, POTE-8, POTE8 Yes No Ensembl:ENSG00000188877, GeneCard:POTEA, HGNC:HGNC:33893, NCBI Gene:340441, OMIM:608915, RefSeq DNA:NT_167187, RefSeq Protein:NP_001002920, RefSeq Protein:NP_001005365, RefSeq RNA:NM_001002920, RefSeq RNA:NM_001005365, UniProtKB:Q6S8J7 No chr8 43147585 43218328 43292370 43363185 +PA164724702 100996331 HGNC:33734 ENSG00000183206, ENSG00000233917 POTE ankyrin domain family member B POTEB """POTE ankyrin domain family, member B"", ""cancer/testis antigen family 104, member 5""" A26B1, CT104.5, POTE-15, POTE15 Yes No Ensembl:ENSG00000183206, Ensembl:ENSG00000233917, GeneCard:POTEB, HGNC:HGNC:33734, NCBI Gene:100996331, OMIM:608912, RefSeq DNA:NT_037852, RefSeq Protein:NP_997238, RefSeq Protein:XP_003403587, RefSeq Protein:XP_003403588, RefSeq Protein:XP_003403589, RefSeq RNA:NM_207355, RefSeq RNA:XM_003403539, RefSeq RNA:XM_003403540, RefSeq RNA:XM_003403541, UniProtKB:Q6S5H4 No chr15 22051853 22083137 21846329 21877393 +PA166123724 100287399 HGNC:48327 ENSG00000230031 POTE ankyrin domain family member B2 POTEB2 POTE ankyrin domain family, member B2 Yes No Ensembl:ENSG00000230031, HGNC:HGNC:48327, NCBI Gene:100287399 No chr15 +PA166123725 102724631 HGNC:51240 ENSG00000278522 POTE ankyrin domain family member B3 POTEB3 POTE ankyrin domain family, member B3 Yes No Ensembl:ENSG00000278522, HGNC:HGNC:51240, NCBI Gene:102724631 No +PA164724729 388468 HGNC:33894 ENSG00000183206 POTE ankyrin domain family member C POTEC """POTE ankyrin domain family, member C"", ""cancer/testis antigen family 104, member 6""" A26B2, CT104.6, DKFZp686J0529, POTE-18, POTE18 Yes No Ensembl:ENSG00000183206, GeneCard:POTEC, HGNC:HGNC:33894, NCBI Gene:388468, RefSeq DNA:NT_010859, RefSeq Protein:NP_001131143, RefSeq RNA:NM_001137671, UniProtKB:B2RU33 No chr18 14511737 14543599 14507339 14543600 +PA164724756 317754 HGNC:23822 ENSG00000166351 POTE ankyrin domain family member D POTED """POTE ankyrin domain family, member D"", ""cancer/testis antigen family 104, member 1""" A26B3, ANKRD21, CT104.1, POTE, POTE-21, POTE21 Yes No Ensembl:ENSG00000166351, GeneCard:POTED, HGNC:HGNC:23822, HumanCyc Gene:HS15433, ModBase:Q86YR6, NCBI Gene:317754, OMIM:607549, RefSeq DNA:NT_011512, RefSeq Protein:NP_778146, RefSeq RNA:NM_174981, UniProtKB:Q86YR6 No chr21 14982498 15013937 13610081 13641585 +PA164724783 445582 HGNC:33895 ENSG00000188219 POTE ankyrin domain family member E POTEE """POTE ankyrin domain family, member E"", ""cancer/testis antigen family 104, member 2""" A26C1, A26C1A, CT104.2, POTE-2, POTE2, POTE2gamma Yes No Ensembl:ENSG00000188219, GeneCard:POTEE, HGNC:HGNC:33895, NCBI Gene:445582, OMIM:608914, RefSeq DNA:NT_022135, RefSeq Protein:NP_001077007, RefSeq RNA:NM_001083538, UniProtKB:Q6S8J3 No chr2 131975924 132022944 131209580 131265254 +PA164724818 728378 HGNC:33905 ENSG00000196604 POTE ankyrin domain family member F POTEF POTE ankyrin domain family, member F A26C1B, POTE2alpha, POTEACTIN Yes No Ensembl:ENSG00000196604, GeneCard:POTEF, HGNC:HGNC:33905, NCBI Gene:728378, RefSeq DNA:NT_022135, RefSeq Protein:NP_001093241, RefSeq RNA:NM_001099771, UniProtKB:A5A3E0 No chr2 130831108 130886795 130073535 130129222 +PA164724853 404785 HGNC:33896 ENSG00000187537 POTE ankyrin domain family member G POTEG """POTE ankyrin domain family, member G"", ""cancer/testis antigen family 104, member 4""" A26C2, CT104.4, POTE-14, POTE14, POTE14alpha Yes No Ensembl:ENSG00000187537, GeneCard:POTEG, HGNC:HGNC:33896, NCBI Gene:404785, OMIM:608916, RefSeq DNA:NT_026437, RefSeq Protein:NP_001005356, RefSeq RNA:NM_001005356, RefSeq RNA:NR_027480, UniProtKB:Q6S5H5 No chr14 19553365 19584942 19402764 19434341 +PA24458 23784 HGNC:133 ENSG00000198062 POTE ankyrin domain family member H POTEH """POTE ankyrin domain family, member H"", ""cancer/testis antigen family 104, member 7""" A26C3, ACTBL1, CT104.7, POTE22 Yes No Ensembl:ENSG00000198062, GenAtlas:ACTBL1, GeneCard:ACTBL1, GeneCard:POTEH, HGNC:HGNC:133, NCBI Gene:23784, OMIM:608913, RefSeq DNA:NT_028395, RefSeq Protein:NP_001004053, RefSeq Protein:NP_001129685, RefSeq RNA:NM_001004053, RefSeq RNA:NM_001136213, UniProtKB:Q6S545 No chr22 16256332 16287937 15690026 15721631 +PA165697301 653269 HGNC:37093 ENSG00000196834 POTE ankyrin domain family member I POTEI POTE ankyrin domain family, member I POTE2beta Yes No Ensembl:ENSG00000196834, GeneCard:POTEI, HGNC:HGNC:37093, NCBI Gene:653269, RefSeq DNA:NT_022135, RefSeq Protein:XP_002342300, RefSeq Protein:XP_933678, RefSeq RNA:XM_002342259, RefSeq RNA:XM_928585, UniProtKB:P0CG38 No chr2 131220234 131266808 130462245 131626428 +PA165697368 653781 HGNC:37094 ENSG00000222038 POTE ankyrin domain family member J POTEJ POTE ankyrin domain family, member J POTE2beta Yes No Ensembl:ENSG00000222038, GeneCard:POTEJ, HGNC:HGNC:37094, NCBI Gene:653781, RefSeq DNA:NT_022135, RefSeq Protein:XP_934799, RefSeq RNA:XM_929706, UniProtKB:P0CG39 No chr2 131369106 131415610 130611077 130658448 +PA142672652 440915 HGNC:30182 ENSG00000204434 POTE ankyrin domain family, member K, pseudogene POTEKP FKSG30, POTE2delta Yes No Ensembl:ENSG00000204434, HGNC:HGNC:30182, ModBase:Q9BYX7, NCBI Gene:440915, OMIM:611266, RefSeq DNA:NT_022135, RefSeq Protein:XP_001723211, RefSeq Protein:XP_001723964, RefSeq Protein:XP_001724457, RefSeq RNA:NR_033885, RefSeq RNA:XM_001723159, RefSeq RNA:XM_001723912, RefSeq RNA:XM_001724405 No chr2 132349666 132366974 131592093 131609401 +PA165479276 641455 HGNC:37096 ENSG00000222036 POTE ankyrin domain family member M POTEM """POTE ankyrin domain family, member M"", ""prostate-specific P704P""" ACT, P704P, POTE14beta Yes No Ensembl:ENSG00000222036, GeneCard:POTEM, HGNC:HGNC:37096, NCBI Gene:641455, RefSeq DNA:NT_026437, RefSeq Protein:NP_001138914, RefSeq RNA:NM_001145442, UniProtKB:A6NI47 No chr14 19983954 20020272 18967434 19003752 +PA33534 5449 HGNC:9210 ENSG00000064835 POU class 1 homeobox 1 POU1F1 growth hormone factor 1, pituitary transcript factor 1 GHF-1, PIT-1, PIT1, POU1F1a Yes No Comparative Toxicogenomics Database:5449, Ensembl:ENSG00000064835, GenAtlas:POU1F1, GeneCard:POU1F1, HGNC:HGNC:9210, HumanCyc Gene:HS00819, ModBase:P28069, NCBI Gene:5449, OMIM:173110, OMIM:262600, OMIM:613038, RefSeq DNA:NG_008225, RefSeq DNA:NT_022459, RefSeq Protein:NP_000297, RefSeq Protein:NP_001116229, RefSeq RNA:NM_000306, RefSeq RNA:NM_001122757, UCSC Genome Browser:NM_000306, UniProtKB:P28069 No chr3 87308783 87325737 87259633 87276587 +PA33535 5450 HGNC:9211 ENSG00000110777 POU class 2 homeobox associating factor 1 POU2AF1 OCT-binding factor 1, POU class 2 associating factor 1 BOB1, OBF1, OCA-B Yes No Comparative Toxicogenomics Database:5450, Ensembl:ENSG00000110777, GenAtlas:POU2AF1, GeneCard:POU2AF1, HGNC:HGNC:9211, HumanCyc Gene:HS03337, NCBI Gene:5450, OMIM:601206, RefSeq DNA:NT_033899, RefSeq Protein:NP_006226, RefSeq RNA:NM_006235, UCSC Genome Browser:NM_006235, UniProtKB:Q16633 No chr11 111222976 111250348 111352251 111379432 +PA143485348 341032 HGNC:30527 ENSG00000150750 POU class 2 homeobox associating factor 2 POU2AF2 chromosome 11 open reading frame 53 C11orf53, MGC50104, OCA-T1 Yes No Ensembl:ENSG00000150750, GeneCard:C11orf53, HGNC:HGNC:30527, ModBase:Q8IXP5, NCBI Gene:341032, RefSeq DNA:NT_033899, RefSeq Protein:NP_940900, RefSeq RNA:NM_198498, UniProtKB:Q8IXP5 No chr11 111126707 111156973 111245720 111286406 +PA165543240 120376 HGNC:26978 ENSG00000214290 POU class 2 homeobox associating factor 3 POU2AF3 cancer susceptibility candidate 13, chromosome 11 open reading frame 93, colorectal cancer associated 2 C11orf93, CASC13, COLCA2, OCA-T2 Yes No Ensembl:ENSG00000214290, GeneCard:C11orf93, HGNC:HGNC:26978, NCBI Gene:120376, RefSeq DNA:NT_033899, RefSeq Protein:NP_001129577, RefSeq RNA:NM_001136105, UniProtKB:A8K830 No chr11 111169271 111179460 111298517 111308735 +PA33536 5451 HGNC:9212 ENSG00000143190 POU class 2 homeobox 1 POU2F1 OCT1, OTF1 Yes No Comparative Toxicogenomics Database:5451, Ensembl:ENSG00000143190, GenAtlas:POU2F1, GeneCard:POU2F1, HGNC:HGNC:9212, HumanCyc Gene:HS07006, ModBase:P14859, NCBI Gene:5451, OMIM:164175, RefSeq DNA:NT_004487, RefSeq Protein:NP_001185712, RefSeq Protein:NP_001185715, RefSeq Protein:NP_002688, RefSeq RNA:NM_001198783, RefSeq RNA:NM_001198786, RefSeq RNA:NM_002697, RefSeq RNA:NR_037163, UCSC Genome Browser:NM_002697, UniProtKB:P14859 No chr1 167190066 167396582 167220829 167427345 +PA33537 5452 HGNC:9213 ENSG00000028277 POU class 2 homeobox 2 POU2F2 octamer-binding transcription factor 2 OCT2, OTF2 Yes Yes Comparative Toxicogenomics Database:5452, Ensembl:ENSG00000028277, GenAtlas:POU2F2, GeneCard:POU2F2, HGNC:HGNC:9213, HumanCyc Gene:HS00464, ModBase:P09086, NCBI Gene:5452, OMIM:164176, RefSeq DNA:NT_011109, RefSeq Protein:NP_001193954, RefSeq Protein:NP_001193955, RefSeq Protein:NP_002689, RefSeq RNA:NM_001207025, RefSeq RNA:NM_001207026, RefSeq RNA:NM_002698, UCSC Genome Browser:NM_002698, UniProtKB:P09086 No chr19 42590262 42636625 42086110 42197931 +PA134963258 25833 HGNC:19864 ENSG00000137709 POU class 2 homeobox 3 POU2F3 Epoc-1, OCT11, PLA-1, Skn-1a Yes No Comparative Toxicogenomics Database:25833, Ensembl:ENSG00000137709, GeneCard:POU2F3, HGNC:HGNC:19864, HumanCyc Gene:HS06378, ModBase:Q9UKI9, NCBI Gene:25833, OMIM:607394, RefSeq DNA:NT_033899, RefSeq Protein:NP_055167, RefSeq RNA:NM_014352, UniProtKB:Q9UKI9 No chr11 120107349 120190653 120236640 120319944 +PA33538 5453 HGNC:9214 ENSG00000185668 POU class 3 homeobox 1 POU3F1 OCT6, OTF6, SCIP Yes No Comparative Toxicogenomics Database:5453, Ensembl:ENSG00000185668, GenAtlas:POU3F1, GeneCard:POU3F1, HGNC:HGNC:9214, ModBase:Q03052, NCBI Gene:5453, OMIM:602479, RefSeq DNA:NT_032977, RefSeq Protein:NP_002690, RefSeq RNA:NM_002699, UCSC Genome Browser:NM_002699, UniProtKB:Q03052 No chr1 38509523 38512450 38043851 38046778 +PA33539 5454 HGNC:9215 ENSG00000184486 POU class 3 homeobox 2 POU3F2 BRN2, OCT7, OTF7, POUF3 Yes No Comparative Toxicogenomics Database:5454, Ensembl:ENSG00000184486, GenAtlas:POU3F2, GeneCard:POU3F2, HGNC:HGNC:9215, ModBase:P20265, NCBI Gene:5454, OMIM:600494, RefSeq DNA:NT_025741, RefSeq Protein:NP_005595, RefSeq RNA:NM_005604, UCSC Genome Browser:NM_005604, UniProtKB:B3KTH8, UniProtKB:P20265 No chr6 99282580 99286666 98834704 98838790 +PA33540 5455 HGNC:9216 ENSG00000198914 POU class 3 homeobox 3 POU3F3 BRN1, OTF8 Yes No Comparative Toxicogenomics Database:5455, Ensembl:ENSG00000198914, GenAtlas:POU3F3, GeneCard:POU3F3, HGNC:HGNC:9216, ModBase:P20264, NCBI Gene:5455, OMIM:602480, RefSeq DNA:NT_022171, RefSeq Protein:NP_006227, RefSeq RNA:NM_006236, UCSC Genome Browser:NM_006236, UniProtKB:P20264 No chr2 105471969 105473471 104854068 104858574 +PA33541 5456 HGNC:9217 ENSG00000196767 POU class 3 homeobox 4 POU3F4 Octamer-binding transcription factor 9, brain-4 BRN4, DFN3, DFNX2, OTF9 Yes No Comparative Toxicogenomics Database:5456, Ensembl:ENSG00000196767, GenAtlas:POU3F4, GeneCard:POU3F4, HGNC:HGNC:9217, ModBase:P49335, NCBI Gene:5456, OMIM:300039, OMIM:304400, RefSeq DNA:NG_009936, RefSeq DNA:NT_011651, RefSeq Protein:NP_000298, RefSeq RNA:NM_000307, UCSC Genome Browser:NM_000307, UniProtKB:B2RC71, UniProtKB:P49335 No chrX 82763269 82764775 83508261 83509767 +PA33542 5457 HGNC:9218 ENSG00000152192 POU class 4 homeobox 1 POU4F1 BRN3A, RDC-1 Yes No Comparative Toxicogenomics Database:5457, Ensembl:ENSG00000152192, GenAtlas:POU4F1, GeneCard:POU4F1, HGNC:HGNC:9218, HumanCyc Gene:HS07795, NCBI Gene:5457, OMIM:601632, RefSeq DNA:NT_024524, RefSeq Protein:NP_006228, RefSeq RNA:NM_006237, UCSC Genome Browser:NM_006237, UniProtKB:Q01851 No chr13 79173227 79177695 78599092 78603560 +PA33543 5458 HGNC:9219 ENSG00000151615 POU class 4 homeobox 2 POU4F2 BRN3B, Brn-3b Yes No Comparative Toxicogenomics Database:5458, Ensembl:ENSG00000151615, GenAtlas:POU4F2, GeneCard:POU4F2, HGNC:HGNC:9219, HumanCyc Gene:HS07750, ModBase:Q12837, NCBI Gene:5458, OMIM:113725, RefSeq DNA:NT_016354, RefSeq Protein:NP_004566, RefSeq RNA:NM_004575, UCSC Genome Browser:NM_004575, UniProtKB:Q12837 No chr4 147560045 147563623 146638893 146642471 +PA33544 5459 HGNC:9220 ENSG00000091010 POU class 4 homeobox 3 POU4F3 BRN3C, DFNA15, DFNA42, DFNA52 Yes No Comparative Toxicogenomics Database:5459, Ensembl:ENSG00000091010, GenAtlas:POU4F3, GeneCard:POU4F3, HGNC:HGNC:9220, HumanCyc Gene:HS01716, ModBase:Q15319, NCBI Gene:5459, OMIM:602459, OMIM:602460, RefSeq DNA:NG_011885, RefSeq DNA:NT_029289, RefSeq Protein:NP_002691, RefSeq RNA:NM_002700, UCSC Genome Browser:NM_002700, UniProtKB:Q15319 No chr5 145718587 145720083 146339024 146340520 +PA33545 5460 HGNC:9221 ENSG00000204531, ENSG00000206454, ENSG00000229094, ENSG00000230336, ENSG00000233911, ENSG00000235068, ENSG00000237582 POU class 5 homeobox 1 POU5F1 MGC22487, OCT-4, OCT3, OTF3, Oct3/4, Oct4 Yes Yes Comparative Toxicogenomics Database:5460, Ensembl:ENSG00000204531, Ensembl:ENSG00000206454, Ensembl:ENSG00000229094, Ensembl:ENSG00000230336, Ensembl:ENSG00000233911, Ensembl:ENSG00000235068, Ensembl:ENSG00000237582, GenAtlas:POU5F1, GeneCard:POU5F1, HGNC:HGNC:9221, HumanCyc Gene:HS06328, ModBase:Q5STF4, NCBI Gene:5460, OMIM:164177, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001167002, RefSeq Protein:NP_002692, RefSeq Protein:NP_976034, RefSeq RNA:NM_001173531, RefSeq RNA:NM_002701, RefSeq RNA:NM_203289, UCSC Genome Browser:NM_002701, UniProtKB:D2IYK3, UniProtKB:Q01860 No chr6 31132114 31138451 31164337 31170693 +PA33547 5462 HGNC:9223 ENSG00000212993 POU class 5 homeobox 1B POU5F1B OTF3C, OTF3P1, POU5F1P1 Yes No Ensembl:ENSG00000212993, GenAtlas:POU5F1P1, GeneCard:POU5F1B, GeneCard:POU5F1P1, HGNC:HGNC:9223, ModBase:Q06416, ModBase:Q9BZV7, NCBI Gene:5462, RefSeq DNA:NT_008046, RefSeq Protein:NP_001153014, RefSeq RNA:NM_001159542, RefSeq RNA:NR_002304, UniProtKB:Q06416 No chr8 128427131 128429455 127415612 127417210 +PA162399970 134187 HGNC:26367 ENSG00000248483 POU domain class 5, transcription factor 2 POU5F2 FLJ25680, SPRM-1 Yes No Ensembl:ENSG00000248483, GeneCard:POU5F2, HGNC:HGNC:26367, ModBase:Q8N7G0, NCBI Gene:134187, RefSeq DNA:NT_034772, RefSeq Protein:NP_694948, RefSeq RNA:NM_153216, UniProtKB:Q8N7G0 No chr5 93076015 93077309 93740309 93741603 +PA33548 5463 HGNC:9224 ENSG00000184271 POU class 6 homeobox 1 POU6F1 BRN5, MPOU, TCFB1 Yes No Comparative Toxicogenomics Database:5463, Ensembl:ENSG00000184271, GenAtlas:POU6F1, GeneCard:POU6F1, HGNC:HGNC:9224, ModBase:Q14863, NCBI Gene:5463, RefSeq DNA:NT_029419, RefSeq Protein:NP_002693, RefSeq RNA:NM_002702, RefSeq RNA:NR_026893, UCSC Genome Browser:NM_002702, UniProtKB:Q14863 No chr12 51580719 51611477 51186936 51218134 +PA134969420 11281 HGNC:21694 ENSG00000106536 POU class 6 homeobox 2 POU6F2 Retina-derived POU-domain factor-1 RPF-1 Yes No Comparative Toxicogenomics Database:11281, Ensembl:ENSG00000106536, GeneCard:POU6F2, HGNC:HGNC:21694, HumanCyc Gene:HS02918, ModBase:P78424, NCBI Gene:11281, OMIM:601583, OMIM:609062, RefSeq DNA:NG_016022, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001159490, RefSeq Protein:NP_009183, RefSeq RNA:NM_001166018, RefSeq RNA:NM_007252, UniProtKB:P78424 No chr7 39017609 39504390 38977878 39468601 +PA134954476 151842 HGNC:28884 pyrophosphatase (inorganic) 1 pseudogene PP1P Yes No GeneCard:PP1P, HGNC:HGNC:28884, NCBI Gene:151842, RefSeq DNA:NG_002639, RefSeq DNA:NT_022517 No chr3 17912909 17914193 17871417 17872701 +PA143485325 151649 HGNC:28406 ENSG00000183977 protein phosphatase 2C like domain containing 1 PP2D1 protein phosphatase 2C-like domain containing 1 C3orf48, FLJ25449 Yes No Ensembl:ENSG00000183977, GeneCard:C3orf48, HGNC:HGNC:28406, ModBase:A8MPX8, NCBI Gene:151649, RefSeq DNA:NT_022517, RefSeq RNA:NR_027694, RefSeq RNA:XR_078278, RefSeq RNA:XR_078953, RefSeq RNA:XR_079135 No chr3 20021453 20053765 19979961 20012273 +PA33550 5464 HGNC:9226 ENSG00000180817 inorganic pyrophosphatase 1 PPA1 cytosolic inorganic pyrophosphatase, inorganic diphosphatase 1, inorganic pyrophosphatase 1, pyrophosphatase (inorganic) 1, pyrophosphate phospho-hydrolase IOPPP, PP, PP1, Ppase, SID6-8061 Yes No Comparative Toxicogenomics Database:5464, Ensembl:ENSG00000180817, GenAtlas:PPA1, GeneCard:PPA1, HGNC:HGNC:9226, HumanCyc Gene:HS11534, ModBase:Q15181, NCBI Gene:5464, OMIM:179030, RefSeq DNA:NT_030059, RefSeq Protein:NP_066952, RefSeq RNA:NM_021129, UCSC Genome Browser:NM_021129, UniProtKB:Q15181 No chr10 71962586 71993667 70202830 70233434 +PA142671159 27068 HGNC:28883 ENSG00000138777 inorganic pyrophosphatase 2 PPA2 pyrophosphatase (inorganic) 2 FLJ20459 Yes Yes Comparative Toxicogenomics Database:27068, Ensembl:ENSG00000138777, GeneCard:PPA2, HGNC:HGNC:28883, HumanCyc Gene:HS06557, ModBase:Q9ULX0, NCBI Gene:27068, OMIM:609988, RefSeq DNA:NT_016354, RefSeq Protein:NP_001029363, RefSeq Protein:NP_008834, RefSeq Protein:NP_789842, RefSeq Protein:NP_789843, RefSeq Protein:NP_789845, RefSeq RNA:NM_001034191, RefSeq RNA:NM_006903, RefSeq RNA:NM_176866, RefSeq RNA:NM_176867, RefSeq RNA:NM_176869, UniProtKB:Q9H2U2 No chr4 106290234 106395227 105369077 105474070 +PA33551 56342 HGNC:9227 ENSG00000130810 peter pan homolog PPAN peter pan homolog (Drosophila) BXDC3, SSF, SSF1, SSF2 Yes No Comparative Toxicogenomics Database:56342, Ensembl:ENSG00000130810, GenAtlas:PPAN, GeneCard:PPAN, HGNC:HGNC:9227, HumanCyc Gene:HS05446, ModBase:Q9NQ55, NCBI Gene:56342, OMIM:607793, RefSeq DNA:NT_011295, RefSeq Protein:NP_064615, RefSeq RNA:NM_020230, UCSC Genome Browser:NM_020230 No chr19 10216899 10221975 10106223 10111299 +PA162399971 692312 HGNC:33526 ENSG00000243207 PPAN-P2RY11 readthrough PPAN-P2RY11 Yes Yes Ensembl:ENSG00000243207, GeneCard:PPAN-P2RY11, HGNC:HGNC:33526, NCBI Gene:692312, RefSeq DNA:NT_011295, RefSeq Protein:NP_001035754, RefSeq Protein:NP_001185619, RefSeq RNA:NM_001040664, RefSeq RNA:NM_001198690, UniProtKB:Q9NQ55 No chr19 10216899 10226065 10106223 10115389 +PA280 5465 HGNC:9232 ENSG00000186951 peroxisome proliferator activated receptor alpha PPARA peroxisome proliferator-activated receptor alpha NR1C1, PPAR, hPPAR Yes Yes Comparative Toxicogenomics Database:5465, Ensembl:ENSG00000186951, GenAtlas:PPARA, GeneCard:PPARA, HGNC:HGNC:9232, HumanCyc Gene:HS02075, ModBase:Q07869, NCBI Gene:5465, OMIM:170998, RefSeq DNA:NG_012204, RefSeq DNA:NT_011520, RefSeq Protein:NP_001001928, RefSeq Protein:NP_005027, RefSeq RNA:NM_001001928, RefSeq RNA:NM_005036, UCSC Genome Browser:NM_005036, UniProtKB:Q07869 No chr22 46546458 46639653 46150534 46243756 +PA166352057 HGNC:9233 peroxisome proliferator-activated receptor alpha-like PPARAL Yes No HGNC:HGNC:9233 No 0 0 0 0 +PA33557 5467 HGNC:9235 ENSG00000112033 peroxisome proliferator activated receptor delta PPARD peroxisome proliferator activated receptor beta, peroxisome proliferator-activated receptor delta FAAR, NR1C2, NUC1, NUCII, PPARB Yes Yes Comparative Toxicogenomics Database:5467, Ensembl:ENSG00000112033, GenAtlas:PPARD, GeneCard:PPARD, HGNC:HGNC:9235, HumanCyc Gene:HS03500, ModBase:Q03181, NCBI Gene:5467, OMIM:600409, RefSeq DNA:NG_012345, RefSeq DNA:NT_007592, RefSeq Protein:NP_001165289, RefSeq Protein:NP_001165290, RefSeq Protein:NP_001165291, RefSeq Protein:NP_006229, RefSeq Protein:NP_803184, RefSeq RNA:NM_001171818, RefSeq RNA:NM_001171819, RefSeq RNA:NM_001171820, RefSeq RNA:NM_006238, RefSeq RNA:NM_177435, UCSC Genome Browser:NM_006238, UniProtKB:B4E3V3, UniProtKB:B7Z3W1, UniProtKB:Q03181 No chr6 35310335 35395968 35342558 35428191 +PA281 5468 HGNC:9236 ENSG00000132170 peroxisome proliferator activated receptor gamma PPARG peroxisome proliferator-activated receptor gamma NR1C3, PPARG1, PPARG2, PPARgamma Yes Yes Comparative Toxicogenomics Database:5468, Ensembl:ENSG00000132170, GenAtlas:PPARG, GeneCard:PPARG, HGNC:HGNC:9236, HumanCyc Gene:HS05602, ModBase:Q15832, NCBI Gene:5468, OMIM:125853, OMIM:137800, OMIM:151660, OMIM:601487, OMIM:601665, OMIM:604367, OMIM:609338, RefSeq DNA:NG_011749, RefSeq DNA:NT_022517, RefSeq Protein:NP_005028, RefSeq Protein:NP_056953, RefSeq Protein:NP_619725, RefSeq Protein:NP_619726, RefSeq RNA:NM_005037, RefSeq RNA:NM_015869, RefSeq RNA:NM_138711, RefSeq RNA:NM_138712, UCSC Genome Browser:NM_005037, UniProtKB:D2KUA6, UniProtKB:P37231 No chr3 12329349 12475855 12287850 12471054 +PA33558 10891 HGNC:9237 ENSG00000109819 PPARG coactivator 1 alpha PPARGC1A """PPARgamma coactivator 1alpha"", ""peroxisome proliferator-activated receptor gamma, coactivator 1 alpha""" PGC-1alpha, PGC1, PGC1A, PPARAGCIα, PPARAGCIα, PPARGC1 Yes Yes Comparative Toxicogenomics Database:10891, Ensembl:ENSG00000109819, GenAtlas:PPARGC1A, GeneCard:PPARGC1A, HGNC:HGNC:9237, HumanCyc Gene:HS03261, ModBase:Q9UBK2, NCBI Gene:10891, OMIM:604517, RefSeq DNA:NT_006316, RefSeq Protein:NP_037393, RefSeq RNA:NM_013261, UCSC Genome Browser:NM_013261, UniProtKB:Q4W5M7, UniProtKB:Q9UBK2 No chr4 23793644 24474394 23792021 24472975 +PA134953410 133522 HGNC:30022 ENSG00000155846 PPARG coactivator 1 beta PPARGC1B """PPARgamma coactivator 1 beta"", ""peroxisome proliferator-activated receptor gamma, coactivator 1 beta""" PERC, PGC1B, PPARAGCIβ, PPARAGCIβ Yes No Comparative Toxicogenomics Database:133522, Ensembl:ENSG00000155846, GeneCard:PPARGC1B, HGNC:HGNC:30022, HumanCyc Gene:HS08070, ModBase:Q86YN6, NCBI Gene:133522, OMIM:601665, OMIM:608886, RefSeq DNA:NG_016747, RefSeq DNA:NT_029289, RefSeq Protein:NP_001166169, RefSeq Protein:NP_001166170, RefSeq Protein:NP_573570, RefSeq RNA:NM_001172698, RefSeq RNA:NM_001172699, RefSeq RNA:NM_133263, UniProtKB:B3KVW0, UniProtKB:B7ZM40, UniProtKB:Q86YN6 No chr5 149109815 149234585 149730252 149857861 +PA33559 5471 HGNC:9238 ENSG00000128059 phosphoribosyl pyrophosphate amidotransferase PPAT GPAT, PRAT Yes No Comparative Toxicogenomics Database:5471, Ensembl:ENSG00000128059, GenAtlas:PPAT, GeneCard:PPAT, HGNC:HGNC:9238, HumanCyc Gene:HS05157, ModBase:Q06203, NCBI Gene:5471, OMIM:172450, RefSeq DNA:NT_022853, RefSeq Protein:NP_002694, RefSeq RNA:NM_002703, UCSC Genome Browser:NM_002703, UniProtKB:A8K4H7, UniProtKB:Q06203 No chr4 57259528 57301802 56393362 56435636 +PA33560 100289640 HGNC:9239 ENSG00000241293 phosphoribosyl pyrophosphate amidotransferase pseudogene 1 PPATP1 Yes No Ensembl:ENSG00000241293, GenAtlas:PPATP1, GeneCard:PPATP1, HGNC:HGNC:9239, NCBI Gene:100289640 No chr3 87100345 87101888 87051195 87052738 +PA33561 5473 HGNC:9240 ENSG00000163736 pro-platelet basic protein PPBP beta-thromboglobulin, chemokine (C-X-C motif) ligand 7, connective tissue-activating peptide III, neutrophil-activating peptide-2, platelet basic protein, pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) Beta-TG, CTAP3, CTAPIII, CXCL7, LA-PF4, LDGF, MDGF, NAP-2, NAP-2-L1, PBP, SCYB7, TGB, TGB1, THBGB1, b-TG1 Yes No Comparative Toxicogenomics Database:5473, Ensembl:ENSG00000163736, GenAtlas:PPBP, GeneCard:PPBP, HGNC:HGNC:9240, HumanCyc Gene:HS08924, ModBase:P02775, NCBI Gene:5473, OMIM:121010, RefSeq DNA:NT_022778, RefSeq Protein:NP_002695, RefSeq RNA:NM_002704, UCSC Genome Browser:NM_002704, UniProtKB:P02775 No chr4 74852156 74853907 73986439 73988190 +PA33562 728045 HGNC:9241 ENSG00000250550 pro-platelet basic protein pseudogene 1 PPBPP1 TGB2 Yes No Comparative Toxicogenomics Database:5474, Ensembl:ENSG00000250550, GenAtlas:PPBPL1, GeneCard:PPBPP1, HGNC:HGNC:9241, NCBI Gene:728045, OMIM:188035, RefSeq DNA:NG_016721, RefSeq DNA:NT_022778, RefSeq Protein:NP_001138232, RefSeq RNA:NM_001144760 No chr4 74713503 74714770 73848736 73849253 +PA134910736 10895 HGNC:16981 ENSG00000248848 pro-platelet basic protein pseudogene 2 PPBPP2 SPBPBP Yes No Ensembl:ENSG00000248848, GeneCard:PPBPP2, HGNC:HGNC:16981, NCBI Gene:10895, OMIM:611591, RefSeq DNA:NT_022778, RefSeq RNA:NR_026769 No chr4 74919755 74921116 74054038 74055399 +PA142671157 60490 HGNC:28107 ENSG00000138621 phosphopantothenoylcysteine decarboxylase PPCDC FLJ14585, MDS018 Yes Yes Ensembl:ENSG00000138621, GeneCard:PPCDC, HGNC:HGNC:28107, HumanCyc Gene:HS13735, ModBase:Q96CD2, NCBI Gene:60490, OMIM:609854, RefSeq DNA:NT_010194, RefSeq Protein:NP_068595, RefSeq RNA:NM_021823, UniProtKB:Q96CD2 No chr15 75315927 75343067 75023533 75060180 +PA142671158 79717 HGNC:25686 ENSG00000127125 phosphopantothenoylcysteine synthetase PPCS FLJ11838 Yes No Comparative Toxicogenomics Database:79717, Ensembl:ENSG00000127125, GeneCard:PPCS, HGNC:HGNC:25686, HumanCyc Gene:HS13229, ModBase:Q9HAB8, NCBI Gene:79717, OMIM:609853, RefSeq DNA:NT_032977, RefSeq Protein:NP_001070915, RefSeq Protein:NP_078940, RefSeq RNA:NM_001077447, RefSeq RNA:NM_024664, UniProtKB:Q5VVM0, UniProtKB:Q9HAB8 No chr1 42921968 42939088 42456341 42473381 +PA25691 79144 HGNC:16142 ENSG00000125534 pancreatic progenitor cell differentiation and proliferation factor PPDPF exocrine differentiation and proliferation factor, pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish) C20orf149, dJ697K14.9, exdpf Yes No Ensembl:ENSG00000125534, GenAtlas:C20orf149, GeneCard:C20orf149, GeneCard:PPDPF, HGNC:HGNC:16142, HumanCyc Gene:HS13166, NCBI Gene:79144, RefSeq DNA:NT_011333, RefSeq Protein:NP_077275, RefSeq RNA:NM_024299, UCSC Genome Browser:NM_024299, UniProtKB:Q9H3Y8 No chr20 62151426 62153524 63520780 63522171 +PA134881233 492307 HGNC:31745 ENSG00000168333 pancreatic progenitor cell differentiation and proliferation factor like PPDPFL chromosome 8 open reading frame 22 C8orf22 Yes No Ensembl:ENSG00000168333, GeneCard:C8orf22, HGNC:HGNC:31745, NCBI Gene:492307, RefSeq DNA:NT_008183, RefSeq Protein:NP_001007177, RefSeq RNA:NM_001007176, UniProtKB:Q8WWR9 No chr8 49966895 49988642 49054336 49076083 +PA33564 5475 HGNC:9243 ENSG00000086717 protein phosphatase with EF-hand domain 1 PPEF1 """protein phosphatase 7, catalytic subunit, alpha isozyme"", ""protein phosphatase, EF-hand calcium binding domain 1""" PPEF, PPP7CA Yes No Ensembl:ENSG00000086717, GenAtlas:PPEF1, GeneCard:PPEF1, HGNC:HGNC:9243, HumanCyc Gene:HS01541, ModBase:O14829, NCBI Gene:5475, OMIM:300109, RefSeq DNA:NG_012519, RefSeq DNA:NT_167197, RefSeq Protein:NP_006231, RefSeq Protein:NP_689410, RefSeq Protein:NP_689412, RefSeq RNA:NM_006240, RefSeq RNA:NM_152224, RefSeq RNA:NM_152226, UCSC Genome Browser:NM_006240, UniProtKB:O14829 No chrX 18704257 18846039 18675909 18827921 +PA33565 5470 HGNC:9244 ENSG00000156194 protein phosphatase with EF-hand domain 2 PPEF2 """protein phosphatase 7, catalytic subunit, beta isozyme"", ""protein phosphatase, EF-hand calcium binding domain 2""" PPP7CB Yes No Comparative Toxicogenomics Database:5470, Ensembl:ENSG00000156194, GenAtlas:PPEF2, GeneCard:PPEF2, HGNC:HGNC:9244, HumanCyc Gene:HS08103, ModBase:O14830, NCBI Gene:5470, OMIM:602256, RefSeq DNA:NT_016354, RefSeq Protein:NP_006230, RefSeq RNA:NM_006239, UCSC Genome Browser:NM_006239, UniProtKB:O14830 No chr4 76781025 76823681 75859872 75902528 +PA33566 8500 HGNC:9245 ENSG00000131626 PTPRF interacting protein alpha 1 PPFIA1 """Liprin-alpha1"", ""protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1""" LIP.1, LIPRIN Yes Yes Comparative Toxicogenomics Database:8500, Ensembl:ENSG00000131626, GenAtlas:PPFIA1, GeneCard:PPFIA1, HGNC:HGNC:9245, HumanCyc Gene:HS05546, ModBase:Q13136, NCBI Gene:8500, OMIM:611054, RefSeq DNA:NT_167190, RefSeq Protein:NP_003617, RefSeq Protein:NP_803172, RefSeq RNA:NM_003626, RefSeq RNA:NM_177423, UCSC Genome Browser:NM_003626, UniProtKB:Q13136 No chr11 70116806 70230607 70270687 70384501 +PA33567 8499 HGNC:9246 ENSG00000139220 PTPRF interacting protein alpha 2 PPFIA2 """Liprin-alpha2"", ""protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2""" Yes No Ensembl:ENSG00000139220, GenAtlas:PPFIA2, GeneCard:PPFIA2, HGNC:HGNC:9246, ModBase:O75334, NCBI Gene:8499, OMIM:603143, RefSeq DNA:NT_029419, RefSeq Protein:NP_001207402, RefSeq Protein:NP_001207403, RefSeq Protein:NP_001207404, RefSeq Protein:NP_001207405, RefSeq Protein:NP_001207406, RefSeq Protein:NP_001207407, RefSeq Protein:NP_001207408, RefSeq Protein:NP_001207409, RefSeq Protein:NP_003616, RefSeq RNA:NM_001220473, RefSeq RNA:NM_001220474, RefSeq RNA:NM_001220475, RefSeq RNA:NM_001220476, RefSeq RNA:NM_001220477, RefSeq RNA:NM_001220478, RefSeq RNA:NM_001220479, RefSeq RNA:NM_001220480, RefSeq RNA:NM_003625, RefSeq RNA:NR_038265, UCSC Genome Browser:NM_003625, UniProtKB:O75334 No chr12 81652045 82153109 81257975 81759748 +PA33568 8541 HGNC:9247 ENSG00000177380 PTPRF interacting protein alpha 3 PPFIA3 """liprin"", ""liprin-alpha 3"", ""protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3"", ""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3""" KIAA0654, LPNA3, MGC126567, MGC126569 Yes No Comparative Toxicogenomics Database:8541, Ensembl:ENSG00000177380, GenAtlas:PPFIA3, GeneCard:PPFIA3, HGNC:HGNC:9247, HumanCyc Gene:HS12560, ModBase:O75145, NCBI Gene:8541, OMIM:603144, RefSeq DNA:NT_011109, RefSeq Protein:NP_003651, RefSeq RNA:NM_003660, UCSC Genome Browser:NM_003660, UniProtKB:O75145 No chr19 49622646 49654287 49119389 49151030 +PA33569 8497 HGNC:9248 ENSG00000143847 PTPRF interacting protein alpha 4 PPFIA4 """Liprin-alpha4"", ""protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4""" Yes No Ensembl:ENSG00000143847, GenAtlas:PPFIA4, GeneCard:PPFIA4, HGNC:HGNC:9248, HumanCyc Gene:HS07116, ModBase:O75335, NCBI Gene:8497, OMIM:603145, RefSeq DNA:NT_004487, RefSeq Protein:NP_055868, RefSeq Protein:XP_003118551, RefSeq RNA:NM_015053, RefSeq RNA:XM_003118503, UniProtKB:B3KN22, UniProtKB:O75335 No chr1 202995649 203047864 203026491 203078736 +PA33570 8496 HGNC:9249 ENSG00000110841 PPFIA binding protein 1 PPFIBP1 """PTPRF interacting protein, binding protein 1 (liprin beta 1)"", ""liprin beta 1""" L2, SGT2, hSGT2, hSgt2p Yes No Comparative Toxicogenomics Database:8496, Ensembl:ENSG00000110841, GenAtlas:PPFIBP1, GeneCard:PPFIBP1, HGNC:HGNC:9249, HumanCyc Gene:HS03343, ModBase:Q86W92, NCBI Gene:8496, OMIM:603141, RefSeq DNA:NT_009714, RefSeq Protein:NP_001185844, RefSeq Protein:NP_001185845, RefSeq Protein:NP_003613, RefSeq Protein:NP_803193, RefSeq RNA:NM_001198915, RefSeq RNA:NM_001198916, RefSeq RNA:NM_003622, RefSeq RNA:NM_177444, UCSC Genome Browser:NM_003622, UniProtKB:Q86W92 No chr12 27677045 27848497 27524112 27695564 +PA33571 8495 HGNC:9250 ENSG00000166387 PPFIA binding protein 2 PPFIBP2 """PTPRF interacting protein, binding protein 2 (liprin beta 2)"", ""liprin beta 2""" Cclp1 Yes No Comparative Toxicogenomics Database:8495, Ensembl:ENSG00000166387, GenAtlas:PPFIBP2, GeneCard:PPFIBP2, HGNC:HGNC:9250, HumanCyc Gene:HS09387, ModBase:Q8ND30, NCBI Gene:8495, OMIM:603142, RefSeq DNA:NT_009237, RefSeq Protein:NP_003612, RefSeq RNA:NM_003621, UniProtKB:Q8ND30 No chr11 7534996 7678537 7513765 7667329 +PA134881011 51535 HGNC:19369 ENSG00000134283 periphilin 1 PPHLN1 Yes No Comparative Toxicogenomics Database:51535, Ensembl:ENSG00000134283, GeneCard:PPHLN1, HGNC:HGNC:19369, HumanCyc Gene:HS05850, ModBase:Q8NEY8, NCBI Gene:51535, OMIM:608150, RefSeq DNA:NT_029419, RefSeq Protein:NP_001137259, RefSeq Protein:NP_001137260, RefSeq Protein:NP_001137261, RefSeq Protein:NP_057572, RefSeq Protein:NP_958846, RefSeq Protein:NP_958847, RefSeq Protein:NP_958848, RefSeq Protein:NP_958923, RefSeq RNA:NM_001143787, RefSeq RNA:NM_001143788, RefSeq RNA:NM_001143789, RefSeq RNA:NM_016488, RefSeq RNA:NM_201438, RefSeq RNA:NM_201439, RefSeq RNA:NM_201440, RefSeq RNA:NM_201515, UniProtKB:Q8NEY8 No chr12 42719947 42842422 42326126 42448621 +PA33574 5478 HGNC:9253 ENSG00000196262 peptidylprolyl isomerase A PPIA Peptidyl-prolyl cis-trans isomerase A, cyclophilin A, peptidylprolyl isomerase A (cyclophilin A) CYPA Yes No Comparative Toxicogenomics Database:5478, Ensembl:ENSG00000196262, GenAtlas:PPIA, GeneCard:PPIA, HGNC:HGNC:9253, HumanCyc Gene:HS07363, HumanCyc Gene:HS07997, ModBase:P62937, NCBI Gene:5478, OMIM:123840, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_066953, RefSeq RNA:NM_021130, UCSC Genome Browser:NM_021130, UniProtKB:A8K220, UniProtKB:P62937 No chr7 44836241 44842716 44796636 44803123 +PA164724909 653505 HGNC:24369 ENSG00000263353 peptidylprolyl isomerase A like 4A PPIAL4A peptidylprolyl isomerase A (cyclophilin A)-like 4A COAS2, PPIAL4, PPIAL4B Yes No Ensembl:ENSG00000263353, GeneCard:PPIAL4A, HGNC:HGNC:24369, NCBI Gene:653505, OMIM:608608, RefSeq DNA:NT_167185, RefSeq Protein:NP_839944, RefSeq RNA:NM_178230 No chr1 144363462 144364246 120889746 120890530 +PA164724917 653598 HGNC:33995 ENSG00000288867 peptidylprolyl isomerase A like 4C PPIAL4C peptidylprolyl isomerase A (cyclophilin A)-like 4C Yes No Ensembl:ENSG00000288867, GeneCard:PPIAL4C, HGNC:HGNC:33995, NCBI Gene:653598, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129261, RefSeq RNA:NM_001135789, UniProtKB:Q9Y536 No chr1 149553003 149553787 149583823 149584607 +PA165752246 645142 HGNC:33998 ENSG00000289549 peptidylprolyl isomerase A like 4D PPIAL4D peptidylprolyl isomerase A (cyclophilin A)-like 4D Yes No Ensembl:ENSG00000289549, GeneCard:PPIAL4D, HGNC:HGNC:33998, NCBI Gene:645142, RefSeq DNA:NG_005555, RefSeq DNA:NT_113799, RefSeq Protein:NP_001157733, RefSeq RNA:NM_001164261 No chr1 148201752 148202536 145241415 145242199 +PA164724924 730262 HGNC:33997 ENSG00000271567 peptidylprolyl isomerase A like 4E PPIAL4E peptidylprolyl isomerase A (cyclophilin A)-like 4E Yes No Ensembl:ENSG00000271567, GeneCard:PPIAL4E, HGNC:HGNC:33997, NCBI Gene:730262, RefSeq DNA:NT_004487, RefSeq Protein:NP_001137504, RefSeq RNA:NM_001144032 No chr1 148644011 148644795 144372875 144373659 +PA165752267 728945 HGNC:33999 ENSG00000279782 peptidylprolyl isomerase A like 4F PPIAL4F peptidylprolyl isomerase A (cyclophilin A)-like 4F Yes No Ensembl:ENSG00000279782, GeneCard:PPIAL4F, HGNC:HGNC:33999, NCBI Gene:728945, RefSeq DNA:NG_009697, RefSeq DNA:NT_004487, RefSeq Protein:NP_001157734, RefSeq RNA:NM_001164262 No chr1 148806015 148806799 144592868 144593652 +PA164724931 644591 HGNC:33996 ENSG00000236334 peptidylprolyl isomerase A like 4G PPIAL4G peptidylprolyl isomerase A (cyclophilin A)-like 4G Yes No Ensembl:ENSG00000236334, GeneCard:PPIAL4G, HGNC:HGNC:33996, NCBI Gene:644591, RefSeq DNA:NT_113797, RefSeq Protein:NP_001116540, RefSeq RNA:NM_001123068, UniProtKB:A2BFH1 No chr1 143767144 143767881 148482548 148483285 +PA166181604 105371242 HGNC:53889 ENSG00000270339 peptidylprolyl isomerase A like 4H PPIAL4H Yes No Ensembl:ENSG00000270339, HGNC:HGNC:53889, NCBI Gene:105371242 No 0 0 0 0 +PA33592 140913 HGNC:9264 ENSG00000224530 peptidylprolyl isomerase A (cyclophilin A) pseudogene 10 PPIAP10 cyclophillin related pseudogene CRP Yes No Ensembl:ENSG00000224530, GenAtlas:PPIAP10, GeneCard:PPIAP10, HGNC:HGNC:9264, NCBI Gene:140913, RefSeq DNA:NG_001008, RefSeq DNA:NT_011362 No chr20 52037753 52038198 53421192 53421678 +PA33591 5483 HGNC:9263 ENSG00000251495 peptidylprolyl isomerase A (cyclophilin A) pseudogene 11 PPIAP11 Yes No Ensembl:ENSG00000251495, GenAtlas:PPIAP11, GeneCard:PPIAP11, HGNC:HGNC:9263, NCBI Gene:5483, RefSeq DNA:NG_001177, RefSeq DNA:NT_006713 No chr5 81305169 81306048 82009390 82010140 +PA33595 5485 HGNC:9266 ENSG00000237882 peptidylprolyl isomerase A (cyclophilin A) pseudogene 13 PPIAP13 Yes No Ensembl:ENSG00000237882, GenAtlas:PPIAP13, GeneCard:PPIAP13, HGNC:HGNC:9266, NCBI Gene:5485, RefSeq DNA:NG_005167, RefSeq DNA:NT_030059 No chr10 76848751 76849602 75089032 75089772 +PA33596 5486 HGNC:9267 ENSG00000264775 peptidylprolyl isomerase A (cyclophilin A) pseudogene 14 PPIAP14 Yes No Ensembl:ENSG00000264775, GenAtlas:PPIAP14, GeneCard:PPIAP14, HGNC:HGNC:9267, NCBI Gene:5486, RefSeq DNA:NG_005168, RefSeq DNA:NT_010859 No chr18 5002511 5003328 5002552 5003296 +PA33597 5487 HGNC:9268 ENSG00000244196 peptidylprolyl isomerase A (cyclophilin A) pseudogene 15 PPIAP15 Yes No Ensembl:ENSG00000244196, GenAtlas:PPIAP15, GeneCard:PPIAP15, HGNC:HGNC:9268, NCBI Gene:5487, RefSeq DNA:NG_005169, RefSeq DNA:NT_005612 No chr3 109189927 109190726 109471120 109471857 +PA33598 5488 HGNC:9269 ENSG00000213509 peptidylprolyl isomerase A (cyclophilin A) pseudogene 16 PPIAP16 Yes No Ensembl:ENSG00000213509, GenAtlas:PPIAP16, GeneCard:PPIAP16, HGNC:HGNC:9269, NCBI Gene:5488, RefSeq DNA:NG_005170, RefSeq DNA:NT_022517 No chr3 57927409 57928275 57941776 57942514 +PA33593 170540 HGNC:16334 ENSG00000225622 peptidylprolyl isomerase A (cyclophilin A) pseudogene 17 PPIAP17 bA494B22.1 Yes No Ensembl:ENSG00000225622, GenAtlas:PPIAP17, GeneCard:PPIAP17, HGNC:HGNC:16334, NCBI Gene:170540, RefSeq DNA:NG_001049, RefSeq DNA:NT_011387 No chr20 16204395 16205180 16223750 16224535 +PA143485579 729673 HGNC:32454 peptidylprolyl isomerase A (cyclophilin A) pseudogene 18 PPIAP18 Yes No GeneCard:PPIAP18, HGNC:HGNC:32454, NCBI Gene:729673, RefSeq DNA:NG_006115, RefSeq DNA:NT_022517 No chr3 44914813 44915557 44873322 44874063 +PA162400000 390006 HGNC:31663 ENSG00000228169 peptidylprolyl isomerase A (cyclophilin A) pseudogene 19 PPIAP19 bA108K1.2 Yes No Ensembl:ENSG00000228169, GeneCard:PPIAP19, HGNC:HGNC:31663, NCBI Gene:390006, RefSeq DNA:NG_009701, RefSeq DNA:NT_030059 No chr10 116449902 116450393 114689943 114690683 +PA33578 170537 HGNC:16542 ENSG00000227379 peptidylprolyl isomerase A (cyclophilin A) pseudogene 2 PPIAP2 bA384D7.2 Yes No Ensembl:ENSG00000227379, GenAtlas:PPIAP2, GeneCard:PPIAP2, HGNC:HGNC:16542, NCBI Gene:170537, RefSeq DNA:NG_001048, RefSeq DNA:NT_011387 No chr20 25348708 25349444 25368067 25368808 +PA165394106 100500737 HGNC:38037 ENSG00000235686 peptidylprolyl isomerase A (cyclophilin A) pseudogene 20 PPIAP20 Yes No Ensembl:ENSG00000235686, HGNC:HGNC:38037, NCBI Gene:100500737 No chr19 12618943 12619077 12508129 12508263 +PA33575 170536 HGNC:16246 ENSG00000226038 peptidylprolyl isomerase A (cyclophilin A) pseudogene 21 PPIAP21 dJ269M15.1 Yes No Ensembl:ENSG00000226038, GenAtlas:PPIAL, GeneCard:PPIAP21, HGNC:HGNC:16246, NCBI Gene:170536, RefSeq DNA:NG_001566, RefSeq DNA:NT_011362 No chr20 41859388 41860102 43230733 43231461 +PA134925918 653214 HGNC:17236 ENSG00000198618 peptidylprolyl isomerase A (cyclophilin A) pseudogene 22 PPIAP22 PPIA3L Yes No Ensembl:ENSG00000198618, GeneCard:PPIAP22, HGNC:HGNC:17236, NCBI Gene:653214, RefSeq DNA:NG_005752, RefSeq DNA:NT_011512 No chr21 20230097 20230594 18857737 18858476 +PA33579 170539 HGNC:16545 ENSG00000235044 peptidylprolyl isomerase A (cyclophilin A) pseudogene 3 PPIAP3 bA425M5.2 Yes No Ensembl:ENSG00000235044, GenAtlas:PPIAP3, GeneCard:PPIAP3, HGNC:HGNC:16545, NCBI Gene:170539, RefSeq DNA:NG_001014, RefSeq DNA:NT_011362 No chr20 36158442 36158946 37530003 37530744 +PA134898463 122552 HGNC:19935 ENSG00000258591 peptidylprolyl isomerase A (cyclophilin A) pseudogene 4 PPIAP4 Yes No Ensembl:ENSG00000258591, GeneCard:PPIAP4, HGNC:HGNC:19935, NCBI Gene:122552, RefSeq DNA:NG_002483, RefSeq DNA:NT_026437 No chr14 39577399 39578132 39108195 39108928 +PA134866517 122842 HGNC:20027 ENSG00000258996 peptidylprolyl isomerase A (cyclophilin A) pseudogene 5 PPIAP5 Yes No Ensembl:ENSG00000258996, GeneCard:PPIAP5, HGNC:HGNC:20027, NCBI Gene:122842, RefSeq DNA:NG_002484, RefSeq DNA:NT_026437 No chr14 59648288 59648862 59181571 59182144 +PA134906011 319128 HGNC:20028 ENSG00000258477 peptidylprolyl isomerase A (cyclophilin A) pseudogene 6 PPIAP6 Yes No Ensembl:ENSG00000258477, GeneCard:PPIAP6, HGNC:HGNC:20028, NCBI Gene:319128, RefSeq DNA:NG_002506, RefSeq DNA:NT_026437 No chr14 68888169 68889011 68421492 68422242 +PA33599 5489 HGNC:9270 ENSG00000173810 peptidylprolyl isomerase A (cyclophilin A) pseudogene 7 PPIAP7 Yes No Ensembl:ENSG00000173810, GenAtlas:PPIAP7, GeneCard:PPIAP7, HGNC:HGNC:9270, NCBI Gene:5489, RefSeq DNA:NG_005171, RefSeq DNA:NT_032977 No chr1 101736182 101737051 101270665 101271410 +PA33600 341457 HGNC:9271 ENSG00000225185 peptidylprolyl isomerase A (cyclophilin A) pseudogene 8 PPIAP8 Yes No Ensembl:ENSG00000225185, GenAtlas:PPIAP8, GeneCard:PPIAP8, HGNC:HGNC:9271, NCBI Gene:341457, RefSeq DNA:NG_006121, RefSeq DNA:NT_019546 No chr12 98984291 98984983 98590515 98591247 +PA33601 5491 HGNC:9272 ENSG00000219797 peptidylprolyl isomerase A (cyclophilin A) pseudogene 9 PPIAP9 Em:AC006046.3 Yes No Ensembl:ENSG00000219797, GenAtlas:PPIAP9, GeneCard:PPIAP9, HGNC:HGNC:9272, NCBI Gene:5491, RefSeq DNA:NG_001025, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 31486754 31488108 31518977 31520330 +PA33580 5479 HGNC:9255 ENSG00000166794 peptidylprolyl isomerase B PPIB S-cyclophilin, cyclophilin B, peptidyl-prolyl cis-trans isomerase B, peptidylprolyl isomerase B (cyclophilin B), rotamase B B, CYP-S1, CYPB, OI9, PPIase, SCYLP Yes No Comparative Toxicogenomics Database:5479, Ensembl:ENSG00000166794, GenAtlas:PPIB, GeneCard:PPIB, HGNC:HGNC:9255, HumanCyc Gene:HS09452, ModBase:P23284, NCBI Gene:5479, OMIM:123841, OMIM:259440, RefSeq DNA:NG_012979, RefSeq DNA:NT_010194, RefSeq Protein:NP_000933, RefSeq RNA:NM_000942, UCSC Genome Browser:NM_000942, UniProtKB:P23284 No chr15 64448014 64455354 64155815 64163155 +PA33581 5480 HGNC:9256 ENSG00000168938 peptidylprolyl isomerase C PPIC cyclophilin C, peptidylprolyl isomerase C (cyclophilin C) CYPC Yes No Comparative Toxicogenomics Database:5480, Ensembl:ENSG00000168938, GenAtlas:PPIC, GeneCard:PPIC, HGNC:HGNC:9256, HumanCyc Gene:HS09855, ModBase:P45877, NCBI Gene:5480, OMIM:123842, RefSeq DNA:NT_034772, RefSeq Protein:NP_000934, RefSeq RNA:NM_000943, UCSC Genome Browser:NM_000943, UniProtKB:P45877 No chr5 122359078 122372425 123023383 123036730 +PA33582 5481 HGNC:9257 ENSG00000171497 peptidylprolyl isomerase D PPID cyclophilin 40 CYP-40, CypD Yes No Comparative Toxicogenomics Database:5481, Ensembl:ENSG00000171497, GenAtlas:PPID, GeneCard:PPID, HGNC:HGNC:9257, HumanCyc Gene:HS10323, ModBase:Q08752, NCBI Gene:5481, OMIM:601753, RefSeq DNA:NT_016354, RefSeq Protein:NP_005029, RefSeq RNA:NM_005038, UCSC Genome Browser:NM_005038, UniProtKB:Q08752 No chr4 159630279 159644552 158709127 158723400 +PA33583 10450 HGNC:9258 ENSG00000084072 peptidylprolyl isomerase E PPIE """PPIase E"", ""cyclophilin 33"", ""cyclophilin E"", ""peptidyl-prolyl cis-trans isomerase E"", ""peptidylprolyl isomerase E (cyclophilin E)"", ""peptidylprolyl isomerase E, isoform 1"", ""rotamase E""" CyP-33, CypE, MGC111222, MGC3736 Yes No Ensembl:ENSG00000084072, GenAtlas:PPIE, GeneCard:PPIE, HGNC:HGNC:9258, HumanCyc Gene:HS01463, ModBase:Q9UNP9, NCBI Gene:10450, OMIM:602435, RefSeq DNA:NT_032977, RefSeq Protein:NP_001181936, RefSeq Protein:NP_006103, RefSeq Protein:NP_982281, RefSeq Protein:NP_982282, RefSeq RNA:NM_001195007, RefSeq RNA:NM_006112, RefSeq RNA:NM_203456, RefSeq RNA:NM_203457, RefSeq RNA:NR_036543, RefSeq RNA:NR_036544, UCSC Genome Browser:NM_006112, UniProtKB:Q9UNP9 No chr1 40204517 40229586 39738845 39765698 +PA33584 10105 HGNC:9259 ENSG00000108179 peptidylprolyl isomerase F PPIF cyclophilin D Cyp-D, CypD, hCyP3 Yes No Comparative Toxicogenomics Database:10105, Ensembl:ENSG00000108179, GenAtlas:PPIF, GeneCard:PPIF, HGNC:HGNC:9259, HumanCyc Gene:HS03069, ModBase:P30405, NCBI Gene:10105, OMIM:604486, RefSeq DNA:NT_030059, RefSeq Protein:NP_005720, RefSeq RNA:NM_005729, UCSC Genome Browser:NM_005729, UniProtKB:P30405 No chr10 81107220 81115090 79347464 79355334 +PA33585 9360 HGNC:14650 ENSG00000138398 peptidylprolyl isomerase G PPIG SR-related CTD-associated factor 10, cyclophilin G, peptidylprolyl isomerase G (cyclophilin G) CARS-Cyp, SCAF10, SRCyp Yes No Comparative Toxicogenomics Database:9360, Ensembl:ENSG00000138398, GenAtlas:PPIG, GeneCard:PPIG, HGNC:HGNC:14650, HumanCyc Gene:HS06500, ModBase:Q13427, NCBI Gene:9360, OMIM:606093, RefSeq DNA:NT_005403, RefSeq Protein:NP_004783, RefSeq RNA:NM_004792, UCSC Genome Browser:NM_004792, UniProtKB:Q13427 No chr2 170440850 170497916 169584340 169641406 +PA33586 10465 HGNC:14651 ENSG00000171960 peptidylprolyl isomerase H PPIH PPIase h, U-snRNP-associated cyclophilin SunCyp-20, USA-CyP SnuCyp-20, cyclophilin H, peptidyl-prolyl cis-trans isomerase H, peptidylprolyl isomerase H (cyclophilin H), rotamase H, small nuclear ribonucleoprotein particle-specific cyclophilin H CYP-20, CYPH, MGC5016, SnuCyp-20, USA-CYP Yes No Comparative Toxicogenomics Database:10465, Ensembl:ENSG00000171960, GenAtlas:PPIH, GeneCard:PPIH, HGNC:HGNC:14651, HumanCyc Gene:HS10424, ModBase:O43447, NCBI Gene:10465, OMIM:606095, RefSeq DNA:NT_032977, RefSeq Protein:NP_006338, RefSeq RNA:NM_006347, UCSC Genome Browser:NM_006347, UniProtKB:O43447, UniProtKB:Q6FH36 No chr1 43123706 43142429 42657770 42681654 +PA134931420 246731 HGNC:31355 ENSG00000230911 peptidylprolyl isomerase H (cyclophilin H) pseudogene 1 PPIHP1 Yes No Ensembl:ENSG00000230911, GeneCard:PPIHP1, HGNC:HGNC:31355, NCBI Gene:246731, RefSeq DNA:NG_001586, RefSeq DNA:NT_033899 No chr11 111900386 111901118 112029662 112030394 +PA134887213 404199 HGNC:31356 ENSG00000220541 peptidylprolyl isomerase H (cyclophilin H) pseudogene 2 PPIHP2 Yes No Ensembl:ENSG00000220541, GeneCard:PPIHP2, HGNC:HGNC:31356, NCBI Gene:404199, RefSeq DNA:NG_004860, RefSeq DNA:NT_011651 No chrX 112765709 112766456 113522438 113523185 +PA33587 51645 HGNC:9260 ENSG00000137168 peptidylprolyl isomerase like 1 PPIL1 cyclophilin like 1, peptidylprolyl isomerase (cyclophilin)-like 1 CYPL1 Yes No Comparative Toxicogenomics Database:51645, Ensembl:ENSG00000137168, GenAtlas:PPIL1, GeneCard:PPIL1, HGNC:HGNC:9260, HumanCyc Gene:HS06281, ModBase:Q9Y3C6, NCBI Gene:51645, OMIM:601301, RefSeq DNA:NT_007592, RefSeq Protein:NP_057143, RefSeq RNA:NM_016059, UCSC Genome Browser:NM_016059, UniProtKB:Q9Y3C6 No chr6 36822605 36842800 36854829 36875024 +PA134923347 150947 HGNC:20865 ENSG00000237951 peptidylprolyl isomerase (cyclophilin)-like 1 pseudogene 1 PPIL1P1 Yes No Ensembl:ENSG00000237951, GeneCard:PPIL1P1, HGNC:HGNC:20865, NCBI Gene:150947, RefSeq DNA:NG_001555, RefSeq DNA:NT_022184 No chr2 26384697 26386728 26161828 26163859 +PA33588 23759 HGNC:9261 ENSG00000100023 peptidylprolyl isomerase like 2 PPIL2 U-box domain containing 7, peptidyl-prolyl cis-trans isomerase-like 2, peptidylprolyl isomerase (cyclophilin)-like 2 CYC4, Cyp-60, UBOX7 Yes No Comparative Toxicogenomics Database:23759, Ensembl:ENSG00000100023, GenAtlas:PPIL2, GeneCard:PPIL2, HGNC:HGNC:9261, HumanCyc Gene:HS01952, ModBase:Q13356, NCBI Gene:23759, OMIM:607588, RefSeq DNA:NT_011520, RefSeq Protein:NP_055152, RefSeq Protein:NP_680480, RefSeq Protein:NP_680481, RefSeq RNA:NM_014337, RefSeq RNA:NM_148175, RefSeq RNA:NM_148176, UCSC Genome Browser:NM_014337, UniProtKB:Q13356 No chr22 22020273 22052202 21665984 21698276 +PA33589 53938 HGNC:9262 ENSG00000240344 peptidylprolyl isomerase like 3 PPIL3 Cyclophilin J, peptidylprolyl isomerase (cyclophilin)-like 3 CyPJ Yes No Comparative Toxicogenomics Database:53938, Ensembl:ENSG00000240344, GenAtlas:PPIL3, GeneCard:PPIL3, HGNC:HGNC:9262, HumanCyc Gene:HS03953, ModBase:Q9H2H8, NCBI Gene:53938, RefSeq DNA:NT_005403, RefSeq Protein:NP_115861, RefSeq Protein:NP_570981, RefSeq Protein:NP_572028, RefSeq RNA:NM_032472, RefSeq RNA:NM_130906, RefSeq RNA:NM_131916, UCSC Genome Browser:NM_032472, UniProtKB:Q9H2H8 No chr2 201735630 201754048 200870907 200889333 +PA33590 85313 HGNC:15702 ENSG00000131013 peptidylprolyl isomerase like 4 PPIL4 peptidylprolyl isomerase (cyclophilin)-like 4 Yes No Ensembl:ENSG00000131013, GenAtlas:PPIL4, GeneCard:PPIL4, HGNC:HGNC:15702, HumanCyc Gene:HS05468, ModBase:Q8WUA2, NCBI Gene:85313, OMIM:607609, RefSeq DNA:NT_025741, RefSeq Protein:NP_624311, RefSeq RNA:NM_139126, UCSC Genome Browser:NM_139126, UniProtKB:Q8WUA2 No chr6 149825631 149867238 149504495 149546102 +PA134939571 285755 HGNC:21557 ENSG00000185250 peptidylprolyl isomerase like 6 PPIL6 peptidylprolyl isomerase (cyclophilin)-like 6, radial spoke 12 homolog (Chlamydomonas) MGC41939, RSPH12, bA425D10.6, dJ919F19.1 Yes No Comparative Toxicogenomics Database:285755, Ensembl:ENSG00000185250, GeneCard:PPIL6, HGNC:HGNC:21557, HumanCyc Gene:HS11954, ModBase:Q8IXY8, NCBI Gene:285755, RefSeq DNA:NT_025741, RefSeq Protein:NP_001104768, RefSeq Protein:NP_775943, RefSeq RNA:NM_001111298, RefSeq RNA:NM_173672, UniProtKB:A9NIU9, UniProtKB:Q8IXY8 No chr6 109711418 109762374 109390215 109441171 +PA165479401 9677 HGNC:29023 ENSG00000168781 diphosphoinositol pentakisphosphate kinase 1 PPIP5K1 HISPPD2A, IPS1, KIAA0377, VIP1 Yes No Comparative Toxicogenomics Database:9677, Ensembl:ENSG00000168781, GeneCard:PPIP5K1, HGNC:HGNC:29023, HumanCyc Gene:HS09822, ModBase:Q8IZN0, NCBI Gene:9677, OMIM:610979, RefSeq DNA:NG_005156, RefSeq DNA:NG_022929, RefSeq DNA:NT_010194, RefSeq Protein:NP_001019634, RefSeq Protein:NP_001124330, RefSeq Protein:NP_001124331, RefSeq Protein:NP_001177143, RefSeq Protein:NP_055474, RefSeq Protein:XP_001723327, RefSeq RNA:NM_001024463, RefSeq RNA:NM_001130858, RefSeq RNA:NM_001130859, RefSeq RNA:NM_001190214, RefSeq RNA:NM_014659, RefSeq RNA:XM_001723275, UniProtKB:Q6PFW1 No chr15 43825660 43882451 43533462 43590272 +PA142671689 554224 HGNC:32373 diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 PPIP5K1P1 HISPPD2BP, KIAA0377P Yes No HGNC:HGNC:32373, NCBI Gene:554224, RefSeq DNA:NG_005156, RefSeq DNA:NT_010194 No chr15 43956515 43977026 43664417 43684727 +PA165660454 23262 HGNC:29035 ENSG00000145725 diphosphoinositol pentakisphosphate kinase 2 PPIP5K2 CFAP160, DFNB100, HISPPD1, KIAA0433, VIP2 Yes No Ensembl:ENSG00000145725, GeneCard:PPIP5K2, HGNC:HGNC:29035, HumanCyc Gene:HS07278, NCBI Gene:23262, OMIM:611648, RefSeq DNA:NT_034772, RefSeq Protein:NP_056031, RefSeq RNA:NM_015216, UCSC Genome Browser:NM_015216, UniProtKB:O43314 No chr5 102455958 102539224 103120254 103203523 +PA33602 5493 HGNC:9273 ENSG00000118898 periplakin PPL Yes No Comparative Toxicogenomics Database:5493, Ensembl:ENSG00000118898, GenAtlas:PPL, GeneCard:PPL, HGNC:HGNC:9273, HumanCyc Gene:HS04257, ModBase:O60437, NCBI Gene:5493, OMIM:602871, RefSeq DNA:NT_010393, RefSeq Protein:NP_002696, RefSeq RNA:NM_002705, UCSC Genome Browser:NM_002705, UniProtKB:O60437 No chr16 4932508 4987136 4882507 4937135 +PA33603 5494 HGNC:9275 ENSG00000100614 protein phosphatase, Mg2+/Mn2+ dependent 1A PPM1A """phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1A""" MGC9201, PP2CA, PP2Calpha Yes Yes Comparative Toxicogenomics Database:5494, Ensembl:ENSG00000100614, GenAtlas:PPM1A, GeneCard:PPM1A, HGNC:HGNC:9275, HumanCyc Gene:HS02125, ModBase:P35813, NCBI Gene:5494, OMIM:606108, RefSeq DNA:NT_026437, RefSeq Protein:NP_066283, RefSeq Protein:NP_808820, RefSeq Protein:NP_808821, RefSeq RNA:NM_021003, RefSeq RNA:NM_177951, RefSeq RNA:NM_177952, UCSC Genome Browser:NM_021003, UniProtKB:B2R8E4, UniProtKB:P35813 No chr14 60712470 60765805 60245752 60299087 +PA33604 5495 HGNC:9276 ENSG00000138032 protein phosphatase, Mg2+/Mn2+ dependent 1B PPM1B """protein phosphatase 2C, beta isoform"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1B""" PP2CB, PP2CBETA, PPC2BETAX Yes No Comparative Toxicogenomics Database:5495, Ensembl:ENSG00000138032, GenAtlas:PPM1B, GeneCard:PPM1B, HGNC:HGNC:9276, HumanCyc Gene:HS06439, ModBase:O75688, NCBI Gene:5495, OMIM:603770, RefSeq DNA:NG_011678, RefSeq DNA:NT_022184, RefSeq Protein:NP_001028728, RefSeq Protein:NP_001028729, RefSeq Protein:NP_002697, RefSeq Protein:NP_808907, RefSeq Protein:NP_808908, RefSeq RNA:NM_001033556, RefSeq RNA:NM_001033557, RefSeq RNA:NM_002706, RefSeq RNA:NM_177968, RefSeq RNA:NM_177969, UCSC Genome Browser:NM_002706, UniProtKB:O75688, UniProtKB:Q4J6C1, UniProtKB:Q4J6C2, UniProtKB:Q658R4, UniProtKB:Q96ER6 No chr2 44395984 44471570 44168803 44247330 +PA33605 8493 HGNC:9277 ENSG00000170836 protein phosphatase, Mg2+/Mn2+ dependent 1D PPM1D """protein phosphatase 2C, delta isoform"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1D"", ""wild-type p53-induced phosphatase 1""" PP2C-DELTA, Wip1 Yes No Comparative Toxicogenomics Database:8493, Ensembl:ENSG00000170836, GenAtlas:PPM1D, GeneCard:PPM1D, HGNC:HGNC:9277, HumanCyc Gene:HS10191, ModBase:O15297, NCBI Gene:8493, OMIM:114480, OMIM:605100, RefSeq DNA:NG_023265, RefSeq DNA:NT_010783, RefSeq Protein:NP_003611, RefSeq RNA:NM_003620, UCSC Genome Browser:NM_003620, UniProtKB:O15297 No chr17 58677544 58743641 60600183 60666280 +PA134943567 22843 HGNC:19322 ENSG00000175175 protein phosphatase, Mg2+/Mn2+ dependent 1E PPM1E """nuclear calmodulin-dependent protein kinase phosphatase"", ""partner of PIX 1"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1E""" CaMKP-N, KIAA1072, POPX1, PP2CH Yes No Ensembl:ENSG00000175175, GeneCard:PPM1E, HGNC:HGNC:19322, HumanCyc Gene:HS10889, ModBase:Q8WY54, NCBI Gene:22843, RefSeq DNA:NT_010783, RefSeq Protein:NP_055721, RefSeq RNA:NM_014906, UniProtKB:Q8WY54 No chr17 56833230 57062540 58755869 58985617 +PA134935566 9647 HGNC:19388 ENSG00000100034 protein phosphatase, Mg2+/Mn2+ dependent 1F PPM1F """Ca(2+)/calmodulin-dependent protein kinase phosphatase"", ""partner of PIX 2"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1F""" CAMKP, CaMKPase, FEM-2, KIAA0015, POPX2 Yes No Comparative Toxicogenomics Database:9647, Ensembl:ENSG00000100034, GeneCard:PPM1F, HGNC:HGNC:19388, HumanCyc Gene:HS01959, ModBase:P49593, NCBI Gene:9647, RefSeq DNA:NT_011520, RefSeq Protein:NP_055449, RefSeq RNA:NM_014634, UniProtKB:P49593 No chr22 22273792 22307250 21919419 21952878 +PA33606 5496 HGNC:9278 ENSG00000115241 protein phosphatase, Mg2+/Mn2+ dependent 1G PPM1G """PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1G""" PP2CG, PP2Cgamma Yes No Comparative Toxicogenomics Database:5496, Ensembl:ENSG00000115241, GenAtlas:PPM1G, GeneCard:PPM1G, HGNC:HGNC:9278, HumanCyc Gene:HS03855, ModBase:O15355, NCBI Gene:5496, OMIM:605119, RefSeq DNA:NT_022184, RefSeq Protein:NP_002698, RefSeq Protein:NP_817092, RefSeq RNA:NM_002707, RefSeq RNA:NM_177983, UCSC Genome Browser:NM_002707, UniProtKB:O15355, UniProtKB:Q6IAU5 No chr2 27604066 27632550 27381199 27409683 +PA38354 57460 HGNC:18583 ENSG00000111110 protein phosphatase, Mg2+/Mn2+ dependent 1H PPM1H """neurite extension-related protein phosphatase related to PP2C"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1H""" ARHCL1, FLJ13253, KIAA1157, NERPP-2C Yes No Ensembl:ENSG00000111110, GenAtlas:PPM1H, GeneCard:PPM1H, HGNC:HGNC:18583, ModBase:Q9ULR3, NCBI Gene:57460, RefSeq DNA:NT_029419, RefSeq Protein:NP_065751, RefSeq RNA:NM_020700, UniProtKB:B1Q2A9, UniProtKB:Q9ULR3 No chr12 63037762 63328665 62643982 62935135 +PA142671150 333926 HGNC:20785 ENSG00000155367 protein phosphatase, Mg2+/Mn2+ dependent 1J PPM1J """protein phosphatase 2C zeta"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1J""" DKFZp434P1514, FLJ35951, MGC19531, PP2Czeta, PPP2CZ Yes No Ensembl:ENSG00000155367, GeneCard:PPM1J, HGNC:HGNC:20785, ModBase:Q5JR12, NCBI Gene:333926, OMIM:609957, RefSeq DNA:NT_032977, RefSeq Protein:NP_005158, RefSeq RNA:NM_005167, UniProtKB:Q5JR12 No chr1 113252616 113257950 112709994 112715328 +PA134912083 152926 HGNC:25415 ENSG00000163644 protein phosphatase, Mg2+/Mn2+ dependent 1K PPM1K """PP2C-type mitochondrial phosphoprotein phosphatase"", ""branched-chain α-ketoacid dehydrogenase phosphatase"", ""branched-chain a-ketoacid dehydrogenase phosphatase"", ""branched-chain α-ketoacid dehydrogenase phosphatase"", ""branched-chain α-ketoacid dehydrogenase phosphatase"", ""protein phosphatase 2C kappa"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1K""" BDP, DKFZp761G058, PP2Ckappa, PP2Cm, hPTMP Yes No Comparative Toxicogenomics Database:152926, Ensembl:ENSG00000163644, GeneCard:PPM1K, HGNC:HGNC:25415, HumanCyc Gene:HS08904, ModBase:Q96NT4, NCBI Gene:152926, OMIM:611065, RefSeq DNA:NT_016354, RefSeq Protein:NP_689755, RefSeq RNA:NM_152542, UniProtKB:Q8N3J5 No chr4 89178761 89205983 88257609 88284831 +PA134871016 151742 HGNC:16381 ENSG00000163590 protein phosphatase, Mg2+/Mn2+ dependent 1L PPM1L """PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1L""" PP2CE Yes No Comparative Toxicogenomics Database:151742, Ensembl:ENSG00000163590, GeneCard:PPM1L, HGNC:HGNC:16381, HumanCyc Gene:HS08887, ModBase:Q5SGD2, NCBI Gene:151742, OMIM:611931, RefSeq DNA:NT_005612, RefSeq Protein:NP_640338, RefSeq RNA:NM_139245, UniProtKB:Q5SGD2 No chr3 160473996 160788817 160755532 161078907 +PA142671151 132160 HGNC:26506 ENSG00000164088 protein phosphatase, Mg2+/Mn2+ dependent 1M PPM1M """protein phosphatase 2C eta"", ""protein phosphatase, Mg2+/Mn2+ dependent, 1M""" FLJ32332, PP2Ceta Yes No Comparative Toxicogenomics Database:132160, Ensembl:ENSG00000164088, GeneCard:PPM1M, HGNC:HGNC:26506, HumanCyc Gene:HS09007, ModBase:Q96MI6, NCBI Gene:132160, OMIM:608979, RefSeq DNA:NT_022517, RefSeq Protein:NP_001116342, RefSeq Protein:NP_653242, RefSeq RNA:NM_001122870, RefSeq RNA:NM_144641, UniProtKB:Q96MI6 No chr3 52279782 52284615 52245725 52250599 +PA165394107 147699 HGNC:26845 ENSG00000213889 protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) PPM1N protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) FLJ40125 Yes No Ensembl:ENSG00000213889, GeneCard:PPM1N, HGNC:HGNC:26845, NCBI Gene:147699, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073870, RefSeq RNA:NM_001080401, UniProtKB:Q8N819 No chr19 46001731 46005768 45497964 45502694 +PA142671152 51400 HGNC:30178 ENSG00000214517 protein phosphatase methylesterase 1 PPME1 ABDH19, PME-1 Yes No Comparative Toxicogenomics Database:51400, Ensembl:ENSG00000214517, GeneCard:PPME1, HGNC:HGNC:30178, ModBase:Q9Y570, NCBI Gene:51400, OMIM:611117, RefSeq DNA:NT_167190, RefSeq Protein:NP_057231, RefSeq RNA:NM_016147, UniProtKB:Q9Y570 No chr11 73881936 73965748 74170891 74254703 +PA33608 5498 HGNC:9280 ENSG00000143224 protoporphyrinogen oxidase PPOX PPO, VP Yes No Comparative Toxicogenomics Database:5498, Ensembl:ENSG00000143224, GenAtlas:PPOX, GeneCard:PPOX, HGNC:HGNC:9280, HumanCyc Gene:HS07011, ModBase:P50336, NCBI Gene:5498, OMIM:176200, OMIM:600923, RefSeq DNA:NG_012877, RefSeq DNA:NT_004487, RefSeq Protein:NP_000300, RefSeq Protein:NP_001116236, RefSeq RNA:NM_000309, RefSeq RNA:NM_001122764, UCSC Genome Browser:NM_000309, UniProtKB:P50336 No chr1 161135832 161148136 161165728 161178277 +PA33609 5499 HGNC:9281 ENSG00000172531 protein phosphatase 1 catalytic subunit alpha PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme PP-1A, PP1A, PP1alpha, PPP1A Yes No Comparative Toxicogenomics Database:5499, Ensembl:ENSG00000172531, GenAtlas:PPP1CA, GeneCard:PPP1CA, HGNC:HGNC:9281, HumanCyc Gene:HS10534, ModBase:P62136, NCBI Gene:5499, OMIM:176875, RefSeq DNA:NT_167190, RefSeq Protein:NP_001008709, RefSeq Protein:NP_002699, RefSeq Protein:NP_996756, RefSeq RNA:NM_001008709, RefSeq RNA:NM_002708, RefSeq RNA:NM_206873, UCSC Genome Browser:NM_002708, UniProtKB:A6NNR3, UniProtKB:P62136, UniProtKB:Q07161 No chr11 67165652 67169376 67398181 67401905 +PA33610 5500 HGNC:9282 ENSG00000213639 protein phosphatase 1 catalytic subunit beta PPP1CB """myosin phosphatase"", ""protein phosphatase 1, catalytic subunit, beta isozyme""" MP, PP-1B, PP1B, PP1beta, PP1c, PPP1beta Yes No Comparative Toxicogenomics Database:5500, Ensembl:ENSG00000213639, GenAtlas:PPP1CB, GeneCard:PPP1CB, HGNC:HGNC:9282, HumanCyc Gene:HS08941, ModBase:P62140, NCBI Gene:5500, OMIM:600590, RefSeq DNA:NT_022184, RefSeq Protein:NP_002700, RefSeq Protein:NP_996759, RefSeq RNA:NM_002709, RefSeq RNA:NM_206876, UCSC Genome Browser:NM_002709, UniProtKB:P62140 No chr2 28974614 29025806 28751748 28802940 +PA33611 5501 HGNC:9283 ENSG00000186298 protein phosphatase 1 catalytic subunit gamma PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme PP1C, PP1gamma Yes No Comparative Toxicogenomics Database:5501, Ensembl:ENSG00000186298, GenAtlas:PPP1CC, GeneCard:PPP1CC, HGNC:HGNC:9283, HumanCyc Gene:HS07713, ModBase:P36873, NCBI Gene:5501, OMIM:176914, RefSeq DNA:NT_009775, RefSeq Protein:NP_002701, RefSeq RNA:NM_002710, UCSC Genome Browser:NM_002710, UniProtKB:P36873 No chr12 111157613 111180783 110708369 110742978 +PA33612 5514 HGNC:9284 ENSG00000204569, ENSG00000206489, ENSG00000227804, ENSG00000230995, ENSG00000231737, ENSG00000235291, ENSG00000238104 protein phosphatase 1 regulatory subunit 10 PPP1R10 """HLA-C associated transcript 53"", ""phosphatase 1 nuclear targeting subunit"", ""protein phosphatase 1, regulatory subunit 10""" CAT53, FB19, PNUTS, p99 Yes No Comparative Toxicogenomics Database:5514, Ensembl:ENSG00000204569, Ensembl:ENSG00000206489, Ensembl:ENSG00000227804, Ensembl:ENSG00000230995, Ensembl:ENSG00000231737, Ensembl:ENSG00000235291, Ensembl:ENSG00000238104, GenAtlas:PPP1R10, GeneCard:PPP1R10, HGNC:HGNC:9284, HumanCyc Gene:HS06311, HumanCyc Gene:HS11478, ModBase:Q96QC0, NCBI Gene:5514, OMIM:603771, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002705, RefSeq RNA:NM_002714, UCSC Genome Browser:NM_002714, UniProtKB:Q2L6I0, UniProtKB:Q58F28, UniProtKB:Q96QC0 No chr6 30568177 30585084 30600400 30618607 +PA33613 100422381 HGNC:16325 ENSG00000255352 protein phosphatase 1, regulatory subunit 10 pseudogene 1 PPP1R10P1 Yes No Ensembl:ENSG00000255352, GenAtlas:PPP1R10P, GeneCard:PPP1R10P, HGNC:HGNC:16325, NCBI Gene:100422381 No chr11 130659124 130660770 130789229 130790875 +PA33614 6992 HGNC:9285 ENSG00000204619, ENSG00000206501, ENSG00000227720, ENSG00000233314, ENSG00000234058, ENSG00000236560, ENSG00000237403, ENSG00000237829 protein phosphatase 1 regulatory inhibitor subunit 11 PPP1R11 protein phosphatase 1, regulatory (inhibitor) subunit 11 CFAP255, HCG-V, HCGV, TCTE5, Tctex5 Yes No Comparative Toxicogenomics Database:6992, Ensembl:ENSG00000204619, Ensembl:ENSG00000206501, Ensembl:ENSG00000227720, Ensembl:ENSG00000233314, Ensembl:ENSG00000234058, Ensembl:ENSG00000236560, Ensembl:ENSG00000237403, Ensembl:ENSG00000237829, GenAtlas:PPP1R11, GeneCard:PPP1R11, HGNC:HGNC:9285, HumanCyc Gene:HS03581, ModBase:O60927, NCBI Gene:6992, OMIM:606670, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_068778, RefSeq RNA:NM_021959, UCSC Genome Browser:NM_021959, UniProtKB:A2BEK1, UniProtKB:O60927 No chr6 30034932 30038110 30066859 30070333 +PA33615 94297 HGNC:16326 ENSG00000236216 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 1 PPP1R11P1 Yes No Ensembl:ENSG00000236216, GenAtlas:PPP1R11P1, GeneCard:PPP1R11P1, HGNC:HGNC:16326, NCBI Gene:94297 No chr1 21724486 21724857 21397800 21398562 +PA33616 94298 HGNC:16327 ENSG00000231765 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 2 PPP1R11P2 Yes No Ensembl:ENSG00000231765, GenAtlas:PPP1R11P2, GeneCard:PPP1R11P2, HGNC:HGNC:16327, NCBI Gene:94298, RefSeq DNA:NG_009575, RefSeq DNA:NT_011630 No chrX 57255467 57255848 57229034 57229415 +PA33617 4659 HGNC:7618 ENSG00000058272 protein phosphatase 1 regulatory subunit 12A PPP1R12A """myosin binding subunit"", ""myosin phosphatase-targeting subunit 1"", ""protein phosphatase 1, regulatory subunit 12A""" M130, MBS, MYPT1 Yes No Comparative Toxicogenomics Database:4659, Ensembl:ENSG00000058272, GenAtlas:PPP1R12A, GeneCard:PPP1R12A, HGNC:HGNC:7618, HumanCyc Gene:HS00720, ModBase:O14974, NCBI Gene:4659, OMIM:602021, RefSeq DNA:NT_029419, RefSeq Protein:NP_001137357, RefSeq Protein:NP_001137358, RefSeq Protein:NP_002471, RefSeq RNA:NM_001143885, RefSeq RNA:NM_001143886, RefSeq RNA:NM_002480, UCSC Genome Browser:NM_002480, UniProtKB:B2RAH5, UniProtKB:B4DZ09, UniProtKB:O14974 No chr12 80167343 80329235 79773563 79935455 +PA33618 4660 HGNC:7619 ENSG00000077157 protein phosphatase 1 regulatory subunit 12B PPP1R12B """myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"", ""protein phosphatase 1, regulatory subunit 12B""" MGC131980, MGC87886, MYPT2, PP1bp55 Yes No Comparative Toxicogenomics Database:4660, Ensembl:ENSG00000077157, GenAtlas:PPP1R12B, GeneCard:PPP1R12B, HGNC:HGNC:7619, HumanCyc Gene:HS01233, ModBase:O60237, NCBI Gene:4660, OMIM:603768, RefSeq DNA:NT_004487, RefSeq Protein:NP_001161329, RefSeq Protein:NP_001161330, RefSeq Protein:NP_001184060, RefSeq Protein:NP_002472, RefSeq Protein:NP_115286, RefSeq Protein:NP_115287, RefSeq Protein:NP_115288, RefSeq RNA:NM_001167857, RefSeq RNA:NM_001167858, RefSeq RNA:NM_001197131, RefSeq RNA:NM_002481, RefSeq RNA:NM_032103, RefSeq RNA:NM_032104, RefSeq RNA:NM_032105, UCSC Genome Browser:NM_002481, UniProtKB:O60237, UniProtKB:Q2TAI8 No chr1 202317830 202557697 202348702 202588569 +PA38560 360021 HGNC:18498 ENSG00000229238 protein phosphatase 1, regulatory subunit 12B pseudogene, Y-linked 1 PPP1R12BP1 PPP1R12BPY1 Yes No Ensembl:ENSG00000229238, GenAtlas:PPP1R12BP, GeneCard:PPP1R12BP1, HGNC:HGNC:18498, NCBI Gene:360021, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 28423970 28494825 26277823 26348678 +PA33619 54776 HGNC:14947 ENSG00000125503 protein phosphatase 1 regulatory subunit 12C PPP1R12C """myosin-binding subunit 85"", ""protein phosphatase 1, regulatory subunit 12C""" AAVS1, DKFZP434D0412, LENG3, MBS85, p84, p85 Yes No Comparative Toxicogenomics Database:54776, Ensembl:ENSG00000125503, GenAtlas:PPP1R12C, GeneCard:PPP1R12C, HGNC:HGNC:14947, HumanCyc Gene:HS13163, ModBase:Q9BZL4, NCBI Gene:54776, OMIM:613245, RefSeq DNA:NT_011109, RefSeq Protein:NP_060077, RefSeq RNA:NM_017607, UCSC Genome Browser:NM_017607, UniProtKB:Q9BZL4 No chr19 55602281 55628968 55090913 55117600 +PA33622 23368 HGNC:14950 ENSG00000088808 protein phosphatase 1 regulatory subunit 13B PPP1R13B protein phosphatase 1, regulatory subunit 13B ASPP1, KIAA0771, p53BP2-like, p85 Yes No Comparative Toxicogenomics Database:23368, Ensembl:ENSG00000088808, GenAtlas:PPP1R13B, GeneCard:PPP1R13B, HGNC:HGNC:14950, HumanCyc Gene:HS12312, ModBase:Q96KQ4, NCBI Gene:23368, OMIM:606455, RefSeq DNA:NT_026437, RefSeq Protein:NP_056131, RefSeq RNA:NM_015316, UCSC Genome Browser:NM_015316, UniProtKB:Q96KQ4 No chr14 104200088 104315116 103733751 103848967 +PA34195 10848 HGNC:18838 ENSG00000104881 protein phosphatase 1 regulatory subunit 13 like PPP1R13L """RelA-associated Inhibitor"", ""protein phosphatase 1, regulatory subunit 13 like""" IASPP, RAI Yes Yes Ensembl:ENSG00000104881, GenAtlas:RAI4, GeneCard:PPP1R13L, GeneCard:RAI4, HGNC:HGNC:18838, HumanCyc Gene:HS02641, ModBase:Q8WUF5, NCBI Gene:10848, OMIM:607463, RefSeq DNA:NT_011109, RefSeq Protein:NP_001135974, RefSeq Protein:NP_006654, RefSeq RNA:NM_001142502, RefSeq RNA:NM_006663, UniProtKB:Q8WUF5 No chr19 45882892 45909787 45379634 45406349 +PA33623 94274 HGNC:14871 ENSG00000167641 protein phosphatase 1 regulatory inhibitor subunit 14A PPP1R14A """17-KDa protein"", ""17-kDa PKC-potentiated inhibitory protein of PP1"", ""PKC-potentiated inhibitory protein of PP1"", ""protein phosphatase 1, regulatory (inhibitor) subunit 14A""" CPI-17, PPP1INL Yes No Comparative Toxicogenomics Database:94274, Ensembl:ENSG00000167641, GenAtlas:PPP1R14A, GeneCard:PPP1R14A, HGNC:HGNC:14871, HumanCyc Gene:HS15582, ModBase:Q96A00, NCBI Gene:94274, OMIM:608153, RefSeq DNA:NT_011109, RefSeq Protein:NP_150281, RefSeq RNA:NM_033256, UCSC Genome Browser:NM_033256, UniProtKB:Q96A00 No chr19 38741877 38747231 38251237 38256591 +PA33624 26472 HGNC:9057 ENSG00000173457 protein phosphatase 1 regulatory inhibitor subunit 14B PPP1R14B protein phosphatase 1, regulatory (inhibitor) subunit 14B PHI-1, PLCB3N, PNG, SOM172 Yes No Comparative Toxicogenomics Database:26472, Ensembl:ENSG00000173457, GenAtlas:PPP1R14B, GeneCard:PPP1R14B, HGNC:HGNC:9057, HumanCyc Gene:HS16215, ModBase:Q96C90, NCBI Gene:26472, OMIM:601140, RefSeq DNA:NT_167190, RefSeq Protein:NP_619634, RefSeq RNA:NM_138689, UCSC Genome Browser:NM_138689, UniProtKB:Q96C90 No chr11 64011951 64014413 64244479 64246941 +PA33625 50516 HGNC:9058 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 1 PPP1R14BP1 Yes No GenAtlas:PPP1R14BP1, GeneCard:PPP1R14BP1, HGNC:HGNC:9058, NCBI Gene:50516, RefSeq DNA:NG_001274, RefSeq DNA:NT_011520 No chr22 31672423 31673401 31276437 31277415 +PA33626 729406 HGNC:16329 ENSG00000213082 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 2 PPP1R14BP2 Yes No Ensembl:ENSG00000213082, GenAtlas:PPP1R14BP2, GeneCard:PPP1R14BP2, HGNC:HGNC:16329, NCBI Gene:729406 No chr2 208546314 208546754 207681390 207682230 +PA33627 100507617 HGNC:16330 ENSG00000179967 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 3 PPP1R14BP3 Yes No Ensembl:ENSG00000179967, GenAtlas:PPP1R14BP3, GeneCard:PPP1R14BP3, HGNC:HGNC:16330, NCBI Gene:100507617 No chr4 140036087 140036528 139114733 139115539 +PA33628 94302 HGNC:16331 ENSG00000270889 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 4 PPP1R14BP4 Yes No Ensembl:ENSG00000270889, GenAtlas:PPP1R14BP4, GeneCard:PPP1R14BP4, HGNC:HGNC:16331, NCBI Gene:94302 No chr7 36010760 36011174 35970950 35971762 +PA33629 442256 HGNC:16332 ENSG00000213133 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 5 PPP1R14BP5 Yes No Ensembl:ENSG00000213133, GenAtlas:PPP1R14BP5, GeneCard:PPP1R14BP5, HGNC:HGNC:16332, NCBI Gene:442256 No chr6 126579070 126579476 126257729 126258331 +PA33630 81706 HGNC:14952 ENSG00000198729 protein phosphatase 1 regulatory inhibitor subunit 14C PPP1R14C """kinase C-enhanced PP1 inhibitor"", ""protein phosphatase 1, regulatory (inhibitor) subunit 14C""" CPI17-like, KEPI, NY-BR-81 Yes Yes Ensembl:ENSG00000198729, GenAtlas:PPP1R14C, GeneCard:PPP1R14C, HGNC:HGNC:14952, ModBase:Q8TAE6, NCBI Gene:81706, OMIM:613242, RefSeq DNA:NT_025741, RefSeq Protein:NP_112211, RefSeq RNA:NM_030949, UCSC Genome Browser:NM_030949, UniProtKB:Q8TAE6 No chr6 150464188 150571528 150143052 150250392 +PA33631 54866 HGNC:14953 ENSG00000166143 protein phosphatase 1 regulatory inhibitor subunit 14D PPP1R14D """PKC-dependent PP1 inhibitory protein"", ""gut and brain phosphatase inhibitor 1"", ""protein phosphatase 1, regulatory (inhibitor) subunit 14D""" CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016 Yes No Ensembl:ENSG00000166143, GenAtlas:PPP1R14D, GeneCard:PPP1R14D, HGNC:HGNC:14953, HumanCyc Gene:HS15408, ModBase:Q9NXH3, NCBI Gene:54866, OMIM:613256, RefSeq DNA:NT_010194, RefSeq Protein:NP_001123615, RefSeq Protein:NP_060196, RefSeq RNA:NM_001130143, RefSeq RNA:NM_017726, UCSC Genome Browser:NM_017726, UniProtKB:Q4V755, UniProtKB:Q9NXH3 No chr15 41107643 41121283 40815445 40828793 +PA33632 23645 HGNC:14375 ENSG00000087074 protein phosphatase 1 regulatory subunit 15A PPP1R15A """growth arrest and DNA-damage-inducible 34"", ""protein phosphatase 1, regulatory subunit 15A""" GADD34 Yes No Comparative Toxicogenomics Database:23645, Ensembl:ENSG00000087074, GenAtlas:PPP1R15A, GeneCard:PPP1R15A, HGNC:HGNC:14375, HumanCyc Gene:HS01549, ModBase:O75807, NCBI Gene:23645, OMIM:611048, RefSeq DNA:NT_011109, RefSeq Protein:NP_055145, RefSeq RNA:NM_014330, UCSC Genome Browser:NM_014330, UniProtKB:O75807 No chr19 49375649 49379319 48872392 48876062 +PA33633 84919 HGNC:14951 ENSG00000158615 protein phosphatase 1 regulatory subunit 15B PPP1R15B protein phosphatase 1, regulatory subunit 15B FLJ14744 Yes No Comparative Toxicogenomics Database:84919, Ensembl:ENSG00000158615, GenAtlas:PPP1R15B, GeneCard:PPP1R15B, HGNC:HGNC:14951, HumanCyc Gene:HS14726, NCBI Gene:84919, OMIM:613257, RefSeq DNA:NT_004487, RefSeq Protein:NP_116222, RefSeq RNA:NM_032833, UCSC Genome Browser:NM_032833, UniProtKB:Q5SWA1 No chr1 204369781 204380945 204398684 204411880 +PA33634 84988 HGNC:14941 ENSG00000160972 protein phosphatase 1 regulatory subunit 16A PPP1R16A protein phosphatase 1, regulatory subunit 16A MGC14333, MYPT3 Yes No Ensembl:ENSG00000160972, GenAtlas:PPP1R16A, GeneCard:PPP1R16A, HGNC:HGNC:14941, HumanCyc Gene:HS08559, ModBase:Q96I34, NCBI Gene:84988, OMIM:609172, RefSeq DNA:NT_037704, RefSeq Protein:NP_116291, RefSeq RNA:NM_032902, UCSC Genome Browser:NM_032902, UniProtKB:Q96I34 No chr8 145703365 145727504 144477987 144502121 +PA33635 26051 HGNC:15850 ENSG00000101445 protein phosphatase 1 regulatory subunit 16B PPP1R16B """TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"", ""protein phosphatase 1, regulatory subunit 16B""" ANKRD4, KIAA0823, TIMAP Yes No Comparative Toxicogenomics Database:26051, Ensembl:ENSG00000101445, GenAtlas:PPP1R16B, GeneCard:PPP1R16B, HGNC:HGNC:15850, HumanCyc Gene:HS02274, ModBase:Q96T49, NCBI Gene:26051, OMIM:613275, RefSeq DNA:NT_011362, RefSeq Protein:NP_001166206, RefSeq Protein:NP_056383, RefSeq RNA:NM_001172735, RefSeq RNA:NM_015568, UCSC Genome Browser:NM_015568, UniProtKB:Q5W9G4, UniProtKB:Q96T49 No chr20 37434348 37551667 38805693 38923024 +PA134908901 10842 HGNC:16973 ENSG00000106341 protein phosphatase 1 regulatory subunit 17 PPP1R17 """G-substrate"", ""protein phosphatase 1, regulatory subunit 17""" C7orf16, GSBS Yes No Comparative Toxicogenomics Database:10842, Ensembl:ENSG00000106341, GeneCard:C7orf16, HGNC:HGNC:16973, HumanCyc Gene:HS02893, NCBI Gene:10842, OMIM:143890, OMIM:604088, RefSeq DNA:NG_023417, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001138595, RefSeq Protein:NP_006649, RefSeq RNA:NM_001145123, RefSeq RNA:NM_006658, UniProtKB:B4DE58, UniProtKB:O96001 No chr7 31726631 31748069 31687017 31709931 +PA134918172 170954 HGNC:29413 ENSG00000146112, ENSG00000225060, ENSG00000229998, ENSG00000230341, ENSG00000234000 protein phosphatase 1 regulatory subunit 18 PPP1R18 """protein phosphatase 1 F-actin cytoskeleton targeting subunit"", ""protein phosphatase 1, regulatory subunit 18""" KIAA1949, phostensin Yes Yes Ensembl:ENSG00000146112, Ensembl:ENSG00000225060, Ensembl:ENSG00000229998, Ensembl:ENSG00000230341, Ensembl:ENSG00000234000, GeneCard:KIAA1949, HGNC:HGNC:29413, ModBase:Q8NDQ4, NCBI Gene:170954, OMIM:610990, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001128342, RefSeq Protein:NP_597728, RefSeq RNA:NM_001134870, RefSeq RNA:NM_133471, UniProtKB:Q6NYC8 No chr6 30644166 30655672 30676389 30687895 +PA33636 5502 HGNC:9286 ENSG00000135447 protein phosphatase 1 regulatory inhibitor subunit 1A PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A Yes No Ensembl:ENSG00000135447, GenAtlas:PPP1R1A, GeneCard:PPP1R1A, HGNC:HGNC:9286, HumanCyc Gene:HS06008, ModBase:Q13522, NCBI Gene:5502, OMIM:613246, RefSeq DNA:NT_029419, RefSeq Protein:NP_006732, RefSeq RNA:NM_006741, UCSC Genome Browser:NM_006741, UniProtKB:Q13522 No chr12 54969176 54982451 54579240 54588659 +PA33637 94304 HGNC:16316 ENSG00000255255 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 1 PPP1R1AP1 Yes No Ensembl:ENSG00000255255, GenAtlas:PPP1R1AP1, GeneCard:PPP1R1AP1, HGNC:HGNC:16316, NCBI Gene:94304 No chr11 75622244 75622668 75911200 75911624 +PA33638 100129627 HGNC:16317 ENSG00000261084 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 2 PPP1R1AP2 Yes No Ensembl:ENSG00000261084, GenAtlas:PPP1R1AP2, GeneCard:PPP1R1AP2, HGNC:HGNC:16317, NCBI Gene:100129627 No chr16 35146391 35146893 35912020 35912522 +PA33639 84152 HGNC:9287 ENSG00000131771 protein phosphatase 1 regulatory inhibitor subunit 1B PPP1R1B """dopamine and cAMP regulated phosphoprotein"", ""protein phosphatase 1, regulatory (inhibitor) subunit 1B""" DARPP-32, FLJ20940 Yes No Comparative Toxicogenomics Database:84152, Ensembl:ENSG00000131771, GenAtlas:PPP1R1B, GeneCard:PPP1R1B, HGNC:HGNC:9287, HumanCyc Gene:HS05563, ModBase:Q9UD71, NCBI Gene:84152, OMIM:604399, RefSeq DNA:NT_010783, RefSeq Protein:NP_001229393, RefSeq Protein:NP_115568, RefSeq Protein:NP_852606, RefSeq RNA:NM_001242464, RefSeq RNA:NM_032192, RefSeq RNA:NM_181505, UCSC Genome Browser:NM_032192, UniProtKB:B3KVQ9, UniProtKB:Q9UD71 No chr17 37783177 37792878 39626208 39636625 +PA33640 151242 HGNC:14940 ENSG00000150722 protein phosphatase 1 regulatory inhibitor subunit 1C PPP1R1C protein phosphatase 1, regulatory (inhibitor) subunit 1C Inhibitor-1-like Yes Yes Comparative Toxicogenomics Database:151242, Ensembl:ENSG00000150722, GenAtlas:PPP1R1C, GeneCard:PPP1R1C, HGNC:HGNC:14940, HumanCyc Gene:HS11925, ModBase:Q8WVI7, NCBI Gene:151242, OMIM:613240, RefSeq DNA:NT_005403, RefSeq Protein:NP_001074014, RefSeq RNA:NM_001080545, UniProtKB:Q8WVI7 No chr2 182818968 182996109 181954241 182131382 +PA33641 5504 HGNC:9288 ENSG00000184203 protein phosphatase 1 regulatory inhibitor subunit 2 PPP1R2 protein phosphatase 1, regulatory (inhibitor) subunit 2 IPP2, PPP1R2A Yes No Comparative Toxicogenomics Database:5504, Ensembl:ENSG00000184203, GenAtlas:PPP1R2, GeneCard:PPP1R2, HGNC:HGNC:9288, ModBase:P41236, NCBI Gene:5504, OMIM:601792, RefSeq DNA:NT_029928, RefSeq Protein:NP_006232, RefSeq RNA:NM_006241, UCSC Genome Browser:NM_006241, UniProtKB:P41236, UniProtKB:Q6NXS2 No chr3 195241221 195270224 195514422 195543401 +PA164722001 129285 HGNC:30595 ENSG00000162869 protein phosphatase 1 regulatory subunit 21 PPP1R21 protein phosphatase 1, regulatory subunit 21 CCDC128, FERRY2, FLJ16566, Fy-2, KLRAQ1 Yes No Ensembl:ENSG00000162869, GeneCard:KLRAQ1, HGNC:HGNC:30595, HumanCyc Gene:HS14980, ModBase:Q6ZMI0, NCBI Gene:129285, RefSeq DNA:NT_022184, RefSeq Protein:NP_001129101, RefSeq Protein:NP_001129102, RefSeq Protein:NP_001180404, RefSeq Protein:NP_694539, RefSeq RNA:NM_001135629, RefSeq RNA:NM_001135630, RefSeq RNA:NM_001193475, RefSeq RNA:NM_152994, RefSeq RNA:NR_024188, UniProtKB:Q6ZMI0 No chr2 48667908 48742531 48440769 48515392 +PA134869847 9858 HGNC:29089 ENSG00000196422 protein phosphatase 1 regulatory subunit 26 PPP1R26 """1A6/DRIM (down-regulated in metastasis) interacting protein"", ""DRIM/UTP20 interacting protein"", ""protein phosphatase 1, regulatory subunit 26""" KIAA0649 Yes No Ensembl:ENSG00000196422, GeneCard:KIAA0649, HGNC:HGNC:29089, ModBase:Q5T8A7, NCBI Gene:9858, RefSeq DNA:NT_019501, RefSeq Protein:NP_055626, RefSeq RNA:NM_014811, UniProtKB:Q5T8A7 No chr9 138371545 138380739 135477650 135488894 +PA27555 116729 HGNC:16813 ENSG00000182676 protein phosphatase 1 regulatory subunit 27 PPP1R27 protein phosphatase 1, regulatory subunit 27 DYSFIP1, toonin Yes No Ensembl:ENSG00000182676, GenAtlas:DYSFIP1, GeneCard:DYSFIP1, HGNC:HGNC:16813, ModBase:Q86WC6, NCBI Gene:116729, RefSeq DNA:NT_010663, RefSeq Protein:NP_001007534, RefSeq RNA:NM_001007533, UniProtKB:Q86WC6 No chr17 79791368 79792926 81833492 81835050 +PA33644 153743 HGNC:16318 ENSG00000231989 PPP1R2 family member B PPP1R2B protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 MGC87149, PPP1R2P3 Yes No Ensembl:ENSG00000231989, GenAtlas:PPP1R2P3, GeneCard:PPP1R2P3, HGNC:HGNC:16318, NCBI Gene:153743, RefSeq DNA:NT_023133, RefSeq RNA:NR_002168, RefSeq RNA:NR_038443 No chr5 156277549 156279539 156850538 156852528 +PA33650 80316 HGNC:16324 ENSG00000102055 PPP1R2 family member C PPP1R2C """PPP1R2C family member C"", ""protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9""" I-4, PPP1R2P9 Yes No Ensembl:ENSG00000102055, GenAtlas:PPP1R2P9, GeneCard:PPP1R2P9, HGNC:HGNC:16324, HumanCyc Gene:HS02343, NCBI Gene:80316, RefSeq DNA:NT_079573, RefSeq RNA:NR_002191 No chrX 42636617 42637486 42777366 42778235 +PA33642 100507444 HGNC:9289 ENSG00000234515 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1 PPP1R2P1 IPP-2P Yes No Ensembl:ENSG00000234515, GenAtlas:PPP1R2P1, GeneCard:PPP1R2P1, HGNC:HGNC:9289, ModBase:Q96PQ5, NCBI Gene:100507444, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_027771 No chr6 32844255 32847851 32876475 32880074 +PA33643 54036 HGNC:9290 ENSG00000234008 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 PPP1R2P2 Yes No Ensembl:ENSG00000234008, GenAtlas:PPP1R2P2, GeneCard:PPP1R2P2, HGNC:HGNC:9290, NCBI Gene:54036, RefSeq DNA:NG_000913, RefSeq DNA:NT_011512 No chr21 37259190 37261024 35886892 35888917 +PA33645 728970 HGNC:16319 ENSG00000241353 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 4 PPP1R2P4 Yes No Ensembl:ENSG00000241353, GenAtlas:PPP1R2P4, GeneCard:PPP1R2P4, HGNC:HGNC:16319, NCBI Gene:728970, RefSeq DNA:NG_011458, RefSeq DNA:NT_024524 No chr13 47011529 47012332 46436727 46438185 +PA33646 649489 HGNC:16320 ENSG00000229360 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 5 PPP1R2P5 Yes No Ensembl:ENSG00000229360, GenAtlas:PPP1R2P5, GeneCard:PPP1R2P5, HGNC:HGNC:16320, NCBI Gene:649489 No chr2 107557339 107557941 106940683 106941682 +PA33647 100130972 HGNC:16321 ENSG00000241661 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 6 PPP1R2P6 Yes No Ensembl:ENSG00000241661, GenAtlas:PPP1R2P6, GeneCard:PPP1R2P6, HGNC:HGNC:16321, NCBI Gene:100130972 No chr7 139992552 139993139 140292556 140293538 +PA33649 94310 HGNC:16323 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 8 PPP1R2P8 Yes No GenAtlas:PPP1R2P8, GeneCard:PPP1R2P8, HGNC:HGNC:16323, NCBI Gene:94310 No chr5 20997273 20998857 20997164 20998748 +PA162380520 221908 HGNC:28320 ENSG00000160813 protein phosphatase 1 regulatory subunit 35 PPP1R35 protein phosphatase 1, regulatory subunit 35 C7orf47, MGC22793 Yes No Ensembl:ENSG00000160813, GeneCard:C7orf47, HGNC:HGNC:28320, HumanCyc Gene:HS14831, ModBase:Q8TAP8, NCBI Gene:221908, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_659467, RefSeq RNA:NM_145030, UniProtKB:Q8TAP8 No chr7 100032900 100034468 100435282 100436615 +PA134955014 145376 HGNC:20097 ENSG00000165807 protein phosphatase 1 regulatory subunit 36 PPP1R36 protein phosphatase 1, regulatory subunit 36 C14orf50 Yes No Ensembl:ENSG00000165807, GeneCard:C14orf50, HGNC:HGNC:20097, HumanCyc Gene:HS15368, ModBase:Q96LQ0, NCBI Gene:145376, RefSeq DNA:NT_026437, RefSeq Protein:NP_758953, RefSeq RNA:NM_172365, UniProtKB:Q96LQ0 No chr14 65016620 65056099 64549902 64590098 +PA162394589 284352 HGNC:27607 ENSG00000104866 protein phosphatase 1 regulatory subunit 37 PPP1R37 protein phosphatase 1, regulatory subunit 37 LRRC68 Yes No Ensembl:ENSG00000104866, GeneCard:LRRC68, HGNC:HGNC:27607, NCBI Gene:284352, RefSeq DNA:NT_011109, RefSeq Protein:NP_061994, RefSeq Protein:XP_001723021, RefSeq Protein:XP_001723062, RefSeq Protein:XP_001724766, RefSeq RNA:NM_019121, RefSeq RNA:XM_001722969, RefSeq RNA:XM_001723010, RefSeq RNA:XM_001724714 No chr19 45596431 45650543 45093173 45147286 +PA33651 5506 HGNC:9291 ENSG00000154415 protein phosphatase 1 regulatory subunit 3A PPP1R3A """glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"", ""protein phosphatase 1, regulatory subunit 3A""" GM, PPP1R3 Yes No Comparative Toxicogenomics Database:5506, Ensembl:ENSG00000154415, GenAtlas:PPP1R3A, GeneCard:PPP1R3A, HGNC:HGNC:9291, HumanCyc Gene:HS07979, ModBase:Q16821, NCBI Gene:5506, OMIM:600917, OMIM:604367, RefSeq DNA:NG_012116, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_002702, RefSeq RNA:NM_002711, UCSC Genome Browser:NM_002711, UniProtKB:Q16821 No chr7 113516882 113559082 113876827 113919094 +PA33652 79660 HGNC:14942 ENSG00000173281 protein phosphatase 1 regulatory subunit 3B PPP1R3B """PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"", ""protein phosphatase 1, regulatory subunit 3B""" FLJ14005, GL, PPP1R4 Yes No Comparative Toxicogenomics Database:79660, Ensembl:ENSG00000173281, GenAtlas:PPP1R3B, GeneCard:PPP1R3B, HGNC:HGNC:14942, HumanCyc Gene:HS16195, ModBase:Q86XI6, NCBI Gene:79660, OMIM:610541, RefSeq DNA:NT_077531, RefSeq Protein:NP_001188258, RefSeq Protein:NP_078883, RefSeq RNA:NM_001201329, RefSeq RNA:NM_024607, UCSC Genome Browser:NM_024607, UniProtKB:Q86XI6 No chr8 8993764 9009152 9136254 9151642 +PA33653 5507 HGNC:9293 ENSG00000119938 protein phosphatase 1 regulatory subunit 3C PPP1R3C """Phosphatase 1, regulatory inhibitor subunit 5"", ""protein phosphatase 1, regulatory subunit 3C"", ""protein targeting to glycogen""" PPP1R5, PTG Yes No Comparative Toxicogenomics Database:5507, Ensembl:ENSG00000119938, GenAtlas:PPP1R3C, GeneCard:PPP1R3C, HGNC:HGNC:9293, HumanCyc Gene:HS04352, ModBase:Q9UQK1, NCBI Gene:5507, OMIM:602999, RefSeq DNA:NT_030059, RefSeq Protein:NP_005389, RefSeq RNA:NM_005398, UCSC Genome Browser:NM_005398, UniProtKB:Q9UQK1 No chr10 93388197 93392858 91628440 91633101 +PA33654 5509 HGNC:9294 ENSG00000132825 protein phosphatase 1 regulatory subunit 3D PPP1R3D protein phosphatase 1, regulatory subunit 3D PPP1R6 Yes No Comparative Toxicogenomics Database:5509, Ensembl:ENSG00000132825, GenAtlas:PPP1R3D, GeneCard:PPP1R3D, HGNC:HGNC:9294, HumanCyc Gene:HS05694, ModBase:O95685, NCBI Gene:5509, OMIM:603326, RefSeq DNA:NT_011362, RefSeq Protein:NP_006233, RefSeq RNA:NM_006242, UCSC Genome Browser:NM_006242, UniProtKB:O95685, UniProtKB:Q86X09 No chr20 58511887 58515352 59936832 59940297 +PA33655 90673 HGNC:14943 ENSG00000235194 protein phosphatase 1 regulatory subunit 3E PPP1R3E protein phosphatase 1, regulatory subunit 3E FLJ00089 Yes No Ensembl:ENSG00000235194, GenAtlas:PPP1R3E, GeneCard:PPP1R3E, HGNC:HGNC:14943, NCBI Gene:90673, RefSeq DNA:NT_026437, RefSeq RNA:NR_026862 No chr14 23764861 23772071 23295921 23302848 +PA33656 89801 HGNC:14944 ENSG00000049769 protein phosphatase 1 regulatory subunit 3F PPP1R3F protein phosphatase 1, regulatory subunit 3F Hb2E Yes No Ensembl:ENSG00000049769, GenAtlas:PPP1R3F, GeneCard:PPP1R3F, HGNC:HGNC:14944, HumanCyc Gene:HS00628, ModBase:Q6ZSY5, NCBI Gene:89801, RefSeq DNA:NG_021273, RefSeq DNA:NT_079573, RefSeq Protein:NP_001171674, RefSeq Protein:NP_149992, RefSeq RNA:NM_001184745, RefSeq RNA:NM_033215, UCSC Genome Browser:NM_033215, UniProtKB:Q6ZSY5 No chrX 49126305 49144557 49269822 49301465 +PA33657 648791 HGNC:14945 ENSG00000219607 protein phosphatase 1 regulatory subunit 3G PPP1R3G protein phosphatase 1, regulatory subunit 3G Yes No Comparative Toxicogenomics Database:389364, Ensembl:ENSG00000219607, GenAtlas:PPP1R3G, GeneCard:PPP1R3G, HGNC:HGNC:14945, NCBI Gene:648791, RefSeq DNA:NT_007592, RefSeq Protein:NP_001138587, RefSeq RNA:NM_001145115, UniProtKB:B7ZBB8 No chr6 5085720 5087455 5085486 5087221 +PA162394588 286187 HGNC:33732 ENSG00000178125 protein phosphatase 1 regulatory subunit 42 PPP1R42 """protein phosphatase 1, regulatory subunit 42"", ""testis leucine-rich repeat""" LRRC67, TLLR, dtr Yes No Ensembl:ENSG00000178125, GeneCard:LRRC67, HGNC:HGNC:33732, NCBI Gene:286187, RefSeq DNA:NT_008183, RefSeq Protein:NP_001013648, RefSeq RNA:NM_001013626, UniProtKB:Q7Z4L9 No chr8 67876280 67940804 66988131 67028551 +PA33658 5510 HGNC:9295 ENSG00000115685 protein phosphatase 1 regulatory subunit 7 PPP1R7 protein phosphatase 1, regulatory subunit 7 sds22 Yes No Comparative Toxicogenomics Database:5510, Ensembl:ENSG00000115685, GenAtlas:PPP1R7, GeneCard:PPP1R7, HGNC:HGNC:9295, HumanCyc Gene:HS03927, ModBase:Q15435, NCBI Gene:5510, OMIM:602877, RefSeq DNA:NT_005416, RefSeq Protein:NP_002703, RefSeq RNA:NM_002712, UCSC Genome Browser:NM_002712, UniProtKB:Q15435 No chr2 242089012 242122439 241149573 241183650 +PA33659 5511 HGNC:9296 ENSG00000117751 protein phosphatase 1 regulatory subunit 8 PPP1R8 """RNase E"", ""activator of RNA decay"", ""nuclear inhibitor of protein phosphatase-1"", ""nuclear subunit of PP-1"", ""protein phosphatase 1 regulatory subunit 8"", ""protein phosphatase 1, regulatory subunit 8""" ARD1, NIPP-1, NIPP1, PRO2047, ard-1 Yes No Comparative Toxicogenomics Database:5511, Ensembl:ENSG00000117751, GenAtlas:PPP1R8, GeneCard:PPP1R8, HGNC:HGNC:9296, HumanCyc Gene:HS04172, ModBase:Q12972, NCBI Gene:5511, OMIM:602636, RefSeq DNA:NT_004610, RefSeq Protein:NP_002704, RefSeq Protein:NP_054829, RefSeq Protein:NP_612568, RefSeq RNA:NM_002713, RefSeq RNA:NM_014110, RefSeq RNA:NM_138558, UCSC Genome Browser:NM_002713, UniProtKB:Q12972, UniProtKB:Q5TEJ4, UniProtKB:Q6ICT4 No chr1 28157252 28178183 27830741 27851672 +PA33660 5512 HGNC:9297 ENSG00000224986 protein phosphatase 1, regulatory subunit 8 pseudogene 1 PPP1R8P1 Yes No Ensembl:ENSG00000224986, GenAtlas:PPP1R8P, GeneCard:PPP1R8P1, HGNC:HGNC:9297, NCBI Gene:5512, RefSeq DNA:NG_001178, RefSeq DNA:NT_032977 No chr1 48790646 48791818 48324976 48326158 +PA33661 55607 HGNC:14946 ENSG00000158528 protein phosphatase 1 regulatory subunit 9A PPP1R9A protein phosphatase 1, regulatory subunit 9A FLJ20068, KIAA1222, Neurabin-I Yes No Comparative Toxicogenomics Database:55607, Ensembl:ENSG00000158528, GenAtlas:PPP1R9A, GeneCard:PPP1R9A, HGNC:HGNC:14946, HumanCyc Gene:HS08306, ModBase:Q9ULJ8, NCBI Gene:55607, OMIM:602468, RefSeq DNA:NG_015803, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001159632, RefSeq Protein:NP_001159633, RefSeq Protein:NP_001159634, RefSeq Protein:NP_001159635, RefSeq Protein:NP_060120, RefSeq RNA:NM_001166160, RefSeq RNA:NM_001166161, RefSeq RNA:NM_001166162, RefSeq RNA:NM_001166163, RefSeq RNA:NM_017650, UCSC Genome Browser:NM_017650, UniProtKB:A1L494, UniProtKB:B2RWQ1, UniProtKB:B7ZLX4, UniProtKB:Q9ULJ8 No chr7 94536949 94925727 94907202 95296415 +PA33662 84687 HGNC:9298 ENSG00000108819 protein phosphatase 1 regulatory subunit 9B PPP1R9B """Neurabin-2"", ""protein phosphatase 1, regulatory subunit 9B"", ""spinophilin""" PPP1R6, PPP1R9, SPINO, Spn Yes No Comparative Toxicogenomics Database:84687, Ensembl:ENSG00000108819, GenAtlas:PPP1R9B, GeneCard:PPP1R9B, HGNC:HGNC:9298, HumanCyc Gene:HS03160, NCBI Gene:84687, OMIM:603325, RefSeq DNA:NT_010783, RefSeq Protein:NP_115984, RefSeq RNA:NM_032595, UCSC Genome Browser:NM_032595, UniProtKB:Q96SB3 No chr17 48211101 48227877 50133735 50151027 +PA33663 5515 HGNC:9299 ENSG00000113575 protein phosphatase 2 catalytic subunit alpha PPP2CA """protein phosphatase 2, catalytic subunit, alpha isozyme"", ""protein phosphatase 2A catalytic subunit, alpha isoform""" PP2AC, PP2Calpha Yes No Comparative Toxicogenomics Database:5515, Ensembl:ENSG00000113575, GenAtlas:PPP2CA, GeneCard:PPP2CA, HGNC:HGNC:9299, HumanCyc Gene:HS03696, ModBase:P67775, NCBI Gene:5515, OMIM:176915, RefSeq DNA:NT_034772, RefSeq Protein:NP_002706, RefSeq RNA:NM_002715, UCSC Genome Browser:NM_002715, UniProtKB:B3KUN1, UniProtKB:P67775 No chr5 133532148 133561950 134196457 134226259 +PA33664 5516 HGNC:9300 ENSG00000104695 protein phosphatase 2 catalytic subunit beta PPP2CB """protein phosphatase 2, catalytic subunit, beta isozyme"", ""protein phosphatase 2A catalytic subunit, beta isoform""" PP2Abeta Yes No Comparative Toxicogenomics Database:5516, Ensembl:ENSG00000104695, GenAtlas:PPP2CB, GeneCard:PPP2CB, HGNC:HGNC:9300, HumanCyc Gene:HS02605, ModBase:P62714, NCBI Gene:5516, OMIM:176916, RefSeq DNA:NT_167187, RefSeq Protein:NP_001009552, RefSeq Protein:NP_004147, RefSeq RNA:NM_001009552, RefSeq RNA:NM_004156, UCSC Genome Browser:NM_004156, UniProtKB:P62714 No chr8 30643126 30670352 30785610 30812836 +PA33665 5517 HGNC:9301 protein phosphatase 2, catalytic subunit, beta isozyme pseudogene 1 PPP2CBP1 Yes No GenAtlas:PPP2CBP, GeneCard:PPP2CBP1, HGNC:HGNC:9301, NCBI Gene:5517, RefSeq DNA:NG_004793, RefSeq DNA:NT_010393 No chr16 31817193 31818642 31805872 31807321 +PA33666 5518 HGNC:9302 ENSG00000105568 protein phosphatase 2 scaffold subunit Aalpha PPP2R1A """Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"", ""protein phosphatase 2, regulatory subunit A, alpha"", ""protein phosphatase 2A structural subunit A, alpha isoform"", ""protein phosphatase 2A, regulatory subunit A, alpha isoform""" PP2A-Aalpha, PP2AA, PR65A Yes No Comparative Toxicogenomics Database:5518, Ensembl:ENSG00000105568, GenAtlas:PPP2R1A, GeneCard:PPP2R1A, HGNC:HGNC:9302, HumanCyc Gene:HS02763, ModBase:P30153, NCBI Gene:5518, OMIM:605983, RefSeq DNA:NT_011109, RefSeq Protein:NP_055040, RefSeq RNA:NM_014225, RefSeq RNA:NR_033500, UCSC Genome Browser:NM_014225, UniProtKB:A8K7B7, UniProtKB:P30153 No chr19 52693055 52729678 52189802 52226425 +PA33667 5519 HGNC:9303 ENSG00000137713 protein phosphatase 2 scaffold subunit Abeta PPP2R1B """PP2A-A-beta"", ""protein phosphatase 2, regulatory subunit A, beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform""" PP2A-Abeta, PR65B Yes No Comparative Toxicogenomics Database:5519, Ensembl:ENSG00000137713, GenAtlas:PPP2R1B, GeneCard:PPP2R1B, HGNC:HGNC:9303, HumanCyc Gene:HS06380, ModBase:P30154, NCBI Gene:5519, OMIM:211980, OMIM:603113, RefSeq DNA:NG_012117, RefSeq DNA:NT_033899, RefSeq Protein:NP_001171033, RefSeq Protein:NP_001171034, RefSeq Protein:NP_002707, RefSeq Protein:NP_859050, RefSeq Protein:NP_859051, RefSeq RNA:NM_001177562, RefSeq RNA:NM_001177563, RefSeq RNA:NM_002716, RefSeq RNA:NM_181699, RefSeq RNA:NM_181700, UCSC Genome Browser:NM_002716, UniProtKB:B4DGQ6, UniProtKB:B4DK91, UniProtKB:B4DWW5, UniProtKB:P30154 No chr11 111597632 111637169 111694569 111766445 +PA33668 5520 HGNC:9304 ENSG00000221914 protein phosphatase 2 regulatory subunit Balpha PPP2R2A """PP2A subunit B isoform alpha"", ""protein phosphatase 2, regulatory subunit B, alpha""" B55A, B55alpha, PR52A, PR55A, PR55alpha Yes No Comparative Toxicogenomics Database:5520, Ensembl:ENSG00000221914, GenAtlas:PPP2R2A, GeneCard:PPP2R2A, HGNC:HGNC:9304, ModBase:P63151, NCBI Gene:5520, OMIM:604941, RefSeq DNA:NT_167187, RefSeq Protein:NP_001171062, RefSeq Protein:NP_002708, RefSeq RNA:NM_001177591, RefSeq RNA:NM_002717, UCSC Genome Browser:NM_002717, UniProtKB:B4E1T7, UniProtKB:P63151 No chr8 26149007 26230196 26291491 26372680 +PA33669 5521 HGNC:9305 ENSG00000156475 protein phosphatase 2 regulatory subunit Bbeta PPP2R2B """PP2A subunit B isoform beta"", ""protein phosphatase 2, regulatory subunit B, beta""" B55beta, PR52B, PR55-BETA, SCA12 Yes No Comparative Toxicogenomics Database:5521, Ensembl:ENSG00000156475, GenAtlas:PPP2R2B, GeneCard:PPP2R2B, HGNC:HGNC:9305, HumanCyc Gene:HS08130, ModBase:Q00005, NCBI Gene:5521, OMIM:604325, OMIM:604326, RefSeq DNA:NG_011570, RefSeq DNA:NT_029289, RefSeq Protein:NP_001120853, RefSeq Protein:NP_004567, RefSeq Protein:NP_858060, RefSeq Protein:NP_858061, RefSeq Protein:NP_858062, RefSeq Protein:NP_858063, RefSeq Protein:NP_858064, RefSeq RNA:NM_001127381, RefSeq RNA:NM_004576, RefSeq RNA:NM_181674, RefSeq RNA:NM_181675, RefSeq RNA:NM_181676, RefSeq RNA:NM_181677, RefSeq RNA:NM_181678, UCSC Genome Browser:NM_004576, UniProtKB:A8MU22, UniProtKB:Q00005 No chr5 145969067 146461083 146589504 147081520 +PA33670 5522 HGNC:9306 ENSG00000074211 protein phosphatase 2 regulatory subunit Bgamma PPP2R2C """PP2A subunit B isoform gamma"", ""protein phosphatase 2, regulatory subunit B, gamma""" B55gamma, IMYPNO, MGC33570, PR52, PR55G Yes No Comparative Toxicogenomics Database:5522, Ensembl:ENSG00000074211, GenAtlas:PPP2R2C, GeneCard:PPP2R2C, HGNC:HGNC:9306, HumanCyc Gene:HS01131, ModBase:Q9Y2T4, NCBI Gene:5522, OMIM:605997, RefSeq DNA:NT_006051, RefSeq Protein:NP_001193923, RefSeq Protein:NP_001193924, RefSeq Protein:NP_001193925, RefSeq Protein:NP_065149, RefSeq Protein:NP_870991, RefSeq RNA:NM_001206994, RefSeq RNA:NM_001206995, RefSeq RNA:NM_001206996, RefSeq RNA:NM_020416, RefSeq RNA:NM_181876, UCSC Genome Browser:NM_020416, UniProtKB:Q9Y2T4 No chr4 6322305 6565327 6320578 6563600 +PA134899040 55844 HGNC:23732 ENSG00000175470 protein phosphatase 2 regulatory subunit Bdelta PPP2R2D """PP2A subunit B isoform delta"", ""protein phosphatase 2, regulatory subunit B, delta""" B55D, B55delta, MDS026 Yes No Comparative Toxicogenomics Database:55844, Ensembl:ENSG00000175470, GeneCard:PPP2R2D, HGNC:HGNC:23732, HumanCyc Gene:HS10935, ModBase:Q66LE6, NCBI Gene:55844, RefSeq DNA:NT_008818, RefSeq Protein:NP_001003656, RefSeq Protein:NP_060931, RefSeq RNA:NM_001003656, RefSeq RNA:NM_018461, RefSeq RNA:NR_033191, UniProtKB:Q66LE6, UniProtKB:Q6PEG1 No chr10 133747957 133770054 131900644 131971535 +PA35523 5523 HGNC:9307 ENSG00000073711 protein phosphatase 2 regulatory subunit B''alpha PPP2R3A """PR130/B''alpha1 subunit"", ""PR72/B''alpha2 subuit"", ""protein phosphatase 2, regulatory subunit B'', alpha""" PPP2R3, PR130, PR72 Yes No Comparative Toxicogenomics Database:5523, Ensembl:ENSG00000073711, GenAtlas:PPP2R3A, GeneCard:PPP2R3A, HGNC:HGNC:9307, HumanCyc Gene:HS01110, ModBase:Q06190, NCBI Gene:5523, OMIM:604944, RefSeq DNA:NT_005612, RefSeq Protein:NP_001177376, RefSeq Protein:NP_002709, RefSeq Protein:NP_871626, RefSeq RNA:NM_001190447, RefSeq RNA:NM_002718, RefSeq RNA:NM_181897, UCSC Genome Browser:NM_002718, UniProtKB:B4DNU1, UniProtKB:Q06190 No chr3 135684515 135866752 135965673 136147910 +PA134878872 28227 HGNC:13417 ENSG00000167393 protein phosphatase 2 regulatory subunit B''beta PPP2R3B protein phosphatase 2, regulatory subunit B'', beta PPP2R3L, PPP2R3LY, PR48, PR70 Yes No Ensembl:ENSG00000167393, GeneCard:PPP2R3B, HGNC:HGNC:13417, HumanCyc Gene:HS09554, ModBase:Q9Y5P8, NCBI Gene:28227, OMIM:300339, RefSeq DNA:NG_013257, RefSeq DNA:NT_167193, RefSeq DNA:NT_167201, RefSeq Protein:NP_037371, RefSeq Protein:NP_955358, RefSeq RNA:NM_013239, RefSeq RNA:NM_199326, UniProtKB:Q9Y5P8 No chrX 294668 347690 333933 386955 +PA162400008 55012 HGNC:17485 ENSG00000092020 protein phosphatase 2 regulatory subunit B''gamma PPP2R3C protein phosphatase 2, regulatory subunit B'', gamma C14orf10, FLJ20644, G4-1, G5PR Yes No Ensembl:ENSG00000092020, GeneCard:PPP2R3C, HGNC:HGNC:17485, HumanCyc Gene:HS01752, ModBase:Q969Q6, NCBI Gene:55012, RefSeq DNA:NT_026437, RefSeq Protein:NP_060387, RefSeq RNA:NM_017917, UniProtKB:Q969Q6 No chr14 35554678 35591868 35085467 35122543 +PA33672 5525 HGNC:9309 ENSG00000066027 protein phosphatase 2 regulatory subunit B'alpha PPP2R5A protein phosphatase 2, regulatory subunit B', alpha B56A, B56alpha, PR61A Yes No Comparative Toxicogenomics Database:5525, Ensembl:ENSG00000066027, GenAtlas:PPP2R5A, GeneCard:PPP2R5A, HGNC:HGNC:9309, HumanCyc Gene:HS00863, ModBase:Q15172, NCBI Gene:5525, OMIM:601643, RefSeq DNA:NT_167186, RefSeq Protein:NP_001186685, RefSeq Protein:NP_006234, RefSeq RNA:NM_001199756, RefSeq RNA:NM_006243, UCSC Genome Browser:NM_006243, UniProtKB:Q15172 No chr1 212458879 212535205 212285537 212361863 +PA33673 5526 HGNC:9310 ENSG00000068971 protein phosphatase 2 regulatory subunit B'beta PPP2R5B """PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform""" B56B, B56beta, FLJ35411, PR61B Yes No Comparative Toxicogenomics Database:5526, Ensembl:ENSG00000068971, GenAtlas:PPP2R5B, GeneCard:PPP2R5B, HGNC:HGNC:9310, HumanCyc Gene:HS00948, ModBase:Q15173, NCBI Gene:5526, OMIM:601644, RefSeq DNA:NT_167190, RefSeq Protein:NP_006235, RefSeq RNA:NM_006244, UCSC Genome Browser:NM_006244, UniProtKB:Q15173 No chr11 64692143 64701950 64917553 64934478 +PA33674 5527 HGNC:9311 ENSG00000078304 protein phosphatase 2 regulatory subunit B'gamma PPP2R5C protein phosphatase 2, regulatory subunit B', gamma B56G, B56gamma, PR61G Yes No Comparative Toxicogenomics Database:5527, Ensembl:ENSG00000078304, GenAtlas:PPP2R5C, GeneCard:PPP2R5C, HGNC:HGNC:9311, HumanCyc Gene:HS01281, ModBase:Q13362, NCBI Gene:5527, OMIM:601645, RefSeq DNA:NT_026437, RefSeq Protein:NP_001155197, RefSeq Protein:NP_001155198, RefSeq Protein:NP_002710, RefSeq Protein:NP_848701, RefSeq Protein:NP_848702, RefSeq Protein:NP_848703, RefSeq RNA:NM_001161725, RefSeq RNA:NM_001161726, RefSeq RNA:NM_002719, RefSeq RNA:NM_178586, RefSeq RNA:NM_178587, RefSeq RNA:NM_178588, UCSC Genome Browser:NM_002719, UniProtKB:B4DYJ8, UniProtKB:Q13362, UniProtKB:Q6ZN33 No chr14 102226910 102394329 101760573 101927992 +PA33675 140921 HGNC:17835 ENSG00000239557 protein phosphatase 2, regulatory subunit B', gamma pseudogene PPP2R5CP Yes No Ensembl:ENSG00000239557, GenAtlas:PPP2R5CP, GeneCard:PPP2R5CP, HGNC:HGNC:17835, NCBI Gene:140921, RefSeq DNA:NG_001307, RefSeq DNA:NT_022517 No chr3 52407668 52409065 52373652 52375049 +PA33676 5528 HGNC:9312 ENSG00000112640 protein phosphatase 2 regulatory subunit B'delta PPP2R5D """Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta""" B56D, B56delta Yes Yes Comparative Toxicogenomics Database:5528, Ensembl:ENSG00000112640, GenAtlas:PPP2R5D, GeneCard:PPP2R5D, HGNC:HGNC:9312, HumanCyc Gene:HS03597, ModBase:Q14738, NCBI Gene:5528, OMIM:601646, RefSeq DNA:NT_007592, RefSeq Protein:NP_006236, RefSeq Protein:NP_851307, RefSeq Protein:NP_851308, RefSeq RNA:NM_006245, RefSeq RNA:NM_180976, RefSeq RNA:NM_180977, UCSC Genome Browser:NM_006245, UniProtKB:Q14738 No chr6 42952218 42980083 42984499 43012345 +PA33677 5529 HGNC:9313 ENSG00000154001 protein phosphatase 2 regulatory subunit B'epsilon PPP2R5E protein phosphatase 2, regulatory subunit B', epsilon isoform B56E, B56epsilon Yes Yes Comparative Toxicogenomics Database:5529, Ensembl:ENSG00000154001, GenAtlas:PPP2R5E, GeneCard:PPP2R5E, HGNC:HGNC:9313, HumanCyc Gene:HS07940, ModBase:Q16537, NCBI Gene:5529, OMIM:601647, RefSeq DNA:NT_026437, RefSeq Protein:NP_006237, RefSeq RNA:NM_006246, UCSC Genome Browser:NM_006246, UniProtKB:Q16537 No chr14 63839838 64010095 63373892 63543361 +PA33678 5530 HGNC:9314 ENSG00000138814 protein phosphatase 3 catalytic subunit alpha PPP3CA """calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"", ""protein phosphatase 3, catalytic subunit, alpha isozyme""" CALN, CALNA, CNA1, PPP2B Yes Yes Comparative Toxicogenomics Database:5530, Ensembl:ENSG00000138814, GenAtlas:PPP3CA, GeneCard:PPP3CA, HGNC:HGNC:9314, HumanCyc Gene:HS06568, ModBase:Q08209, NCBI Gene:5530, OMIM:114105, RefSeq DNA:NT_016354, RefSeq Protein:NP_000935, RefSeq Protein:NP_001124163, RefSeq Protein:NP_001124164, RefSeq RNA:NM_000944, RefSeq RNA:NM_001130691, RefSeq RNA:NM_001130692, UCSC Genome Browser:NM_000944, UniProtKB:A8W6Z7, UniProtKB:Q08209 No chr4 101944587 102268655 101023430 101347471 +PA33679 5532 HGNC:9315 ENSG00000107758 protein phosphatase 3 catalytic subunit beta PPP3CB """calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"", ""protein phosphatase 3, catalytic subunit, beta isozyme""" CALNA2, CALNB, CNA2, PP2Bbeta Yes No Comparative Toxicogenomics Database:5532, Ensembl:ENSG00000107758, GenAtlas:PPP3CB, GeneCard:PPP3CB, HGNC:HGNC:9315, HumanCyc Gene:HS03023, ModBase:P16298, NCBI Gene:5532, OMIM:114106, RefSeq DNA:NT_030059, RefSeq Protein:NP_001135825, RefSeq Protein:NP_001135826, RefSeq Protein:NP_066955, RefSeq RNA:NM_001142353, RefSeq RNA:NM_001142354, RefSeq RNA:NM_021132, UCSC Genome Browser:NM_021132, UniProtKB:P16298, UniProtKB:Q8N1F0 No chr10 75196563 75255782 73436428 73496024 +PA33680 5533 HGNC:9316 ENSG00000120910 protein phosphatase 3 catalytic subunit gamma PPP3CC """calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"", ""protein phosphatase 3, catalytic subunit, gamma isozyme""" CALNA3, PP2Bgamma Yes No Ensembl:ENSG00000120910, GenAtlas:PPP3CC, GeneCard:PPP3CC, HGNC:HGNC:9316, HumanCyc Gene:HS04450, ModBase:P48454, NCBI Gene:5533, OMIM:114107, RefSeq DNA:NT_167187, RefSeq Protein:NP_005596, RefSeq RNA:NM_005605, UCSC Genome Browser:NM_005605, UniProtKB:P48454 No chr8 22298483 22398657 22440970 22541466 +PA33681 5534 HGNC:9317 ENSG00000221823 protein phosphatase 3 regulatory subunit B, alpha PPP3R1 """calcineurin B, type I (19kDa)"", ""protein phosphatase 2B regulatory subunit B alpha"", ""protein phosphatase 3, regulatory subunit B, alpha""" CALNB1, CNB, CNB1 Yes Yes Comparative Toxicogenomics Database:5534, Ensembl:ENSG00000221823, GenAtlas:PPP3R1, GeneCard:PPP3R1, HGNC:HGNC:9317, ModBase:P63098, NCBI Gene:5534, OMIM:601302, RefSeq DNA:NT_022184, RefSeq Protein:NP_000936, RefSeq RNA:NM_000945, UCSC Genome Browser:NM_000945, UniProtKB:P63098 No chr2 68405979 68483392 68178857 68252519 +PA33682 5535 HGNC:9318 ENSG00000188386 protein phosphatase 3 regulatory subunit B, beta PPP3R2 """calcineurin B, type II (19kDa)"", ""protein phosphatase 2B regulatory subunit 2"", ""protein phosphatase 3, regulatory subunit B (calcineurin B)-like"", ""protein phosphatase 3, regulatory subunit B, beta""" PPP3RL Yes No Ensembl:ENSG00000188386, GenAtlas:PPP3R2, GeneCard:PPP3R2, HGNC:HGNC:9318, ModBase:Q96LZ3, NCBI Gene:5535, RefSeq DNA:NT_008470, RefSeq Protein:NP_671709, RefSeq RNA:NM_147180, UCSC Genome Browser:NM_147180, UniProtKB:Q5VTR4, UniProtKB:Q96LZ3 No chr9 104353897 104357283 101591615 101595001 +PA33683 5531 HGNC:9319 ENSG00000149923 protein phosphatase 4 catalytic subunit PPP4C """protein phosphatase 4, catalytic subunit"", ""protein phosphatase X, catalytic subunit""" PP4, PPX Yes No Comparative Toxicogenomics Database:5531, Ensembl:ENSG00000149923, GenAtlas:PPP4C, GeneCard:PPP4C, HGNC:HGNC:9319, HumanCyc Gene:HS07646, ModBase:P60510, NCBI Gene:5531, OMIM:602035, RefSeq DNA:NT_010393, RefSeq Protein:NP_002711, RefSeq RNA:NM_002720, UCSC Genome Browser:NM_002720, UniProtKB:P60510 No chr16 30087297 30096698 30075976 30085377 +PA33684 9989 HGNC:9320 ENSG00000154845 protein phosphatase 4 regulatory subunit 1 PPP4R1 protein phosphatase 4, regulatory subunit 1 PP4R1 Yes No Comparative Toxicogenomics Database:9989, Ensembl:ENSG00000154845, GenAtlas:PPP4R1, GeneCard:PPP4R1, HGNC:HGNC:9320, HumanCyc Gene:HS14539, ModBase:Q8TF05, NCBI Gene:9989, OMIM:604908, RefSeq DNA:NT_010859, RefSeq Protein:NP_001035847, RefSeq Protein:NP_005125, RefSeq RNA:NM_001042388, RefSeq RNA:NM_005134, UCSC Genome Browser:NM_005134, UniProtKB:Q8TF05 No chr18 9546789 9614605 9546791 9615274 +PA33685 55370 HGNC:15755 ENSG00000124224 protein phosphatase 4, regulatory subunit 1-like PPP4R1L bA196N14.4, bA196N14.5 Yes No Comparative Toxicogenomics Database:55370, Ensembl:ENSG00000124224, GenAtlas:PPP4R1L, GeneCard:PPP4R1L, HGNC:HGNC:15755, HumanCyc Gene:HS13117, ModBase:Q9P1A2, NCBI Gene:55370, RefSeq DNA:NT_011362, RefSeq RNA:NR_003505, UCSC Genome Browser:NM_018498 No chr20 56807833 56884495 58232777 58309439 +PA38520 151987 HGNC:18296 ENSG00000163605 protein phosphatase 4 regulatory subunit 2 PPP4R2 protein phosphatase 4, regulatory subunit 2 Yes No Ensembl:ENSG00000163605, GenAtlas:PPP4R2, GeneCard:PPP4R2, HGNC:HGNC:18296, ModBase:Q9NY27, NCBI Gene:151987, RefSeq DNA:NT_022459, RefSeq Protein:NP_777567, RefSeq RNA:NM_174907, UCSC Genome Browser:NM_019853, UCSC Genome Browser:NM_174907, UniProtKB:Q9NY27 No chr3 73045985 73118349 72996743 73069201 +PA162403940 55671 HGNC:20219 ENSG00000100796 protein phosphatase 4 regulatory subunit 3A PPP4R3A SMEK homolog 1, suppressor of mek1 (Dictyostelium) FLFL1, FLJ20707, KIAA2010, MSTP033, PP4R3, SMEK1, smk-1, smk1 Yes No Ensembl:ENSG00000100796, GeneCard:SMEK1, HGNC:HGNC:20219, HumanCyc Gene:HS12426, ModBase:Q9NWP1, NCBI Gene:55671, OMIM:610351, RefSeq DNA:NT_026437, RefSeq Protein:NP_115949, RefSeq RNA:NM_032560, UniProtKB:Q6IN85 No chr14 91923955 91976898 91457481 91510554 +PA162403977 57223 HGNC:29267 ENSG00000275052 protein phosphatase 4 regulatory subunit 3B PPP4R3B SMEK homolog 2, suppressor of mek1 (Dictyostelium) FLFL2, FLJ31474, KIAA1387, PSY2, SMEK2 Yes No Ensembl:ENSG00000275052, GeneCard:SMEK2, HGNC:HGNC:29267, ModBase:Q5MIZ7, NCBI Gene:57223, OMIM:610352, RefSeq DNA:NT_022184, RefSeq Protein:NP_001116436, RefSeq Protein:NP_065196, RefSeq RNA:NM_001122964, RefSeq RNA:NM_020463, UniProtKB:Q5MIZ7 No chr2 55774428 55844860 55547292 55617757 +PA166181605 139420 HGNC:33146 ENSG00000224960 protein phosphatase 4 regulatory subunit 3C PPP4R3C FLFL3P, FLJ32867, PPP4R3CP, SMEK3P, smk1 Yes No Ensembl:ENSG00000224960, HGNC:HGNC:33146, NCBI Gene:139420 No 0 0 0 0 +PA164724938 57718 HGNC:23788 ENSG00000119698 protein phosphatase 4 regulatory subunit 4 PPP4R4 """cilia and flagella associated protein 14"", ""protein phosphatase 4, regulatory subunit 4""" CFAP14, KIAA1622, PP4R4 Yes No Ensembl:ENSG00000119698, GeneCard:PPP4R4, HGNC:HGNC:23788, HumanCyc Gene:HS12952, ModBase:Q6NUP7, NCBI Gene:57718, RefSeq DNA:NT_026437, RefSeq Protein:NP_066009, RefSeq Protein:NP_478144, RefSeq RNA:NM_020958, RefSeq RNA:NM_058237, UniProtKB:Q6NUP7 No chr14 94640649 94746092 94174312 94279735 +PA33686 5536 HGNC:9322 ENSG00000011485 protein phosphatase 5 catalytic subunit PPP5C protein phosphatase 5, catalytic subunit PP5, PPP5 Yes No Comparative Toxicogenomics Database:5536, Ensembl:ENSG00000011485, GenAtlas:PPP5C, GeneCard:PPP5C, HGNC:HGNC:9322, HumanCyc Gene:HS00320, ModBase:P53041, NCBI Gene:5536, OMIM:600658, RefSeq DNA:NT_011109, RefSeq Protein:NP_001191213, RefSeq Protein:NP_006238, RefSeq RNA:NM_001204284, RefSeq RNA:NM_006247, UCSC Genome Browser:NM_006247, UniProtKB:P53041 No chr19 46850251 46896238 46346994 46390975 +PA33687 5537 HGNC:9323 ENSG00000119414 protein phosphatase 6 catalytic subunit PPP6C protein phosphatase 6, catalytic subunit PP6 Yes No Ensembl:ENSG00000119414, GenAtlas:PPP6C, GeneCard:PPP6C, HGNC:HGNC:9323, HumanCyc Gene:HS04296, ModBase:O00743, NCBI Gene:5537, OMIM:612725, RefSeq DNA:NT_008470, RefSeq Protein:NP_001116827, RefSeq Protein:NP_001116841, RefSeq Protein:NP_002712, RefSeq RNA:NM_001123355, RefSeq RNA:NM_001123369, RefSeq RNA:NM_002721, UCSC Genome Browser:NM_002721, UniProtKB:B7Z2W9, UniProtKB:O00743 No chr9 127908852 127952218 125146573 125189939 +PA165394108 22870 HGNC:29195 ENSG00000105063 protein phosphatase 6 regulatory subunit 1 PPP6R1 protein phosphatase 6, regulatory subunit 1 KIAA1115, SAP190, SAPS1 Yes No Comparative Toxicogenomics Database:22870, Ensembl:ENSG00000105063, GeneCard:PPP6R1, HGNC:HGNC:29195, HumanCyc Gene:HS12572, NCBI Gene:22870, OMIM:610875, RefSeq DNA:NT_011109, RefSeq Protein:NP_055746, RefSeq RNA:NM_014931, UCSC Genome Browser:NM_014931, UniProtKB:Q9UPN7 No chr19 55741147 55770038 55229779 55258670 +PA165378360 9701 HGNC:19253 ENSG00000100239 protein phosphatase 6 regulatory subunit 2 PPP6R2 protein phosphatase 6, regulatory subunit 2 KIAA0685, SAP190, SAPS2, dJ579N16.1 Yes No Ensembl:ENSG00000100239, GeneCard:PPP6R2, HGNC:HGNC:19253, NCBI Gene:9701, OMIM:610877, RefSeq DNA:NT_011526, RefSeq Protein:NP_001229827, RefSeq Protein:NP_001229828, RefSeq Protein:NP_001229829, RefSeq Protein:NP_055493, RefSeq RNA:NM_001242898, RefSeq RNA:NM_001242899, RefSeq RNA:NM_001242900, RefSeq RNA:NM_014678, UniProtKB:O75170 No chr22 50781746 50883519 50343317 50445090 +PA25487 55291 HGNC:1173 ENSG00000110075 protein phosphatase 6 regulatory subunit 3 PPP6R3 """protein phosphatase 6, regulatory subunit 3"", ""sporulation-induced transcript 4-associated protein""" C11orf23, DKFZp781E17107, DKFZp781E2374, DKFZp781O2362, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712, PP6R3, SAP190, SAPL, SAPLa, SAPS3 Yes No Ensembl:ENSG00000110075, GenAtlas:SAPS3, GeneCard:PPP6R3, GeneCard:SAPS3, HGNC:HGNC:1173, HumanCyc Gene:HS12713, NCBI Gene:55291, OMIM:610879, RefSeq DNA:NT_033903, RefSeq DNA:NT_167190, RefSeq Protein:NP_001157632, RefSeq Protein:NP_001157633, RefSeq Protein:NP_001157634, RefSeq Protein:NP_001157635, RefSeq Protein:NP_001157636, RefSeq Protein:NP_060782, RefSeq RNA:NM_001164160, RefSeq RNA:NM_001164161, RefSeq RNA:NM_001164162, RefSeq RNA:NM_001164163, RefSeq RNA:NM_001164164, RefSeq RNA:NM_018312, UCSC Genome Browser:NM_018312, UniProtKB:Q5H9R7 No chr11 68228186 68382802 68460712 68615334 +PA134886297 23082 HGNC:30025 ENSG00000148840 PPARG related coactivator 1 PPRC1 """peroxisome proliferator-activated receptor gamma, coactivator-related 1"", ""pgc-1 related coactivator""" KIAA0595, MGC74642, PRC Yes No Comparative Toxicogenomics Database:23082, Ensembl:ENSG00000148840, GeneCard:PPRC1, HGNC:HGNC:30025, HumanCyc Gene:HS07566, ModBase:Q5VV67, NCBI Gene:23082, RefSeq DNA:NT_030059, RefSeq Protein:NP_055877, RefSeq RNA:NM_015062, UniProtKB:Q5VV67 No chr10 103892787 103910090 102132994 102150333 +PA33688 5538 HGNC:9325 ENSG00000131238 palmitoyl-protein thioesterase 1 PPT1 ceroid-lipofuscinosis, neuronal 1, infantile CLN1, INCL, PPT Yes No Comparative Toxicogenomics Database:5538, Ensembl:ENSG00000131238, GenAtlas:PPT1, GeneCard:PPT1, HGNC:HGNC:9325, HumanCyc Gene:HS05505, ModBase:P50897, NCBI Gene:5538, OMIM:256730, OMIM:600722, RefSeq DNA:NG_009192, RefSeq DNA:NT_032977, RefSeq Protein:NP_000301, RefSeq Protein:NP_001136076, RefSeq RNA:NM_000310, RefSeq RNA:NM_001142604, UCSC Genome Browser:NM_000310, UniProtKB:B4DY24, UniProtKB:P50897, UniProtKB:Q6FGQ4 No chr1 40538382 40563142 40072710 40097470 +PA33689 9374 HGNC:9326 ENSG00000168452, ENSG00000206329, ENSG00000221988, ENSG00000227600, ENSG00000231618, ENSG00000236649 palmitoyl-protein thioesterase 2 PPT2 Yes No Comparative Toxicogenomics Database:9374, Ensembl:ENSG00000168452, Ensembl:ENSG00000206329, Ensembl:ENSG00000221988, Ensembl:ENSG00000227600, Ensembl:ENSG00000231618, Ensembl:ENSG00000236649, GenAtlas:PPT2, GeneCard:PPT2, HGNC:HGNC:9326, ModBase:Q5STJ5, NCBI Gene:9374, OMIM:603298, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001191032, RefSeq Protein:NP_005146, RefSeq Protein:NP_619731, RefSeq RNA:NM_001204103, RefSeq RNA:NM_005155, RefSeq RNA:NM_138717, UCSC Genome Browser:NM_005155, UniProtKB:B0S872, UniProtKB:Q9UMR5 No chr6 32121229 32131458 32153452 32163681 +PA143485580 160760 HGNC:30695 ENSG00000196850 protein phosphatase targeting COQ7 PPTC7 PTC7 protein phosphatase homolog, PTC7 protein phosphatase homolog (S. cerevisiae), T cell activation protein phosphatase 2C TA-PP2C Yes No Comparative Toxicogenomics Database:160760, Ensembl:ENSG00000196850, GeneCard:PPTC7, HGNC:HGNC:30695, HumanCyc Gene:HS06617, ModBase:Q8NI37, NCBI Gene:160760, OMIM:609668, RefSeq DNA:NT_009775, RefSeq Protein:NP_644812, RefSeq RNA:NM_139283, UniProtKB:Q8NI37 No chr12 110972237 111021064 110534432 110583259 +PA142671149 23398 HGNC:28954 ENSG00000113593 peptidylprolyl isomerase domain and WD repeat containing 1 PPWD1 KIAA0073 Yes No Ensembl:ENSG00000113593, GeneCard:PPWD1, HGNC:HGNC:28954, HumanCyc Gene:HS11903, ModBase:Q96BP3, NCBI Gene:23398, RefSeq DNA:NT_006713, RefSeq Protein:NP_056157, RefSeq RNA:NM_015342, UniProtKB:Q96BP3 No chr5 64859063 64883376 65563236 65587549 +PA33690 5539 HGNC:9327 ENSG00000108849 pancreatic polypeptide PPY pancreatic polypeptide Y, prepro-PP (prepropancreatic polypeptide) PNP Yes No Comparative Toxicogenomics Database:5539, Ensembl:ENSG00000108849, GenAtlas:PPY, GeneCard:PPY, HGNC:HGNC:9327, HumanCyc Gene:HS03171, ModBase:P01298, NCBI Gene:5539, OMIM:167780, RefSeq DNA:NT_010783, RefSeq Protein:NP_002713, RefSeq RNA:NM_002722, UCSC Genome Browser:NM_002722, UniProtKB:P01298 No chr17 42018172 42019833 43940802 43944211 +PA33693 10084 HGNC:9330 ENSG00000102103 polyglutamine binding protein 1 PQBP1 MRX2, MRX55, MRXS3, MRXS8, RENS1, SHS Yes No Comparative Toxicogenomics Database:10084, Ensembl:ENSG00000102103, GenAtlas:PQBP1, GeneCard:PQBP1, HGNC:HGNC:9330, HumanCyc Gene:HS02353, ModBase:Q4VY36, NCBI Gene:10084, OMIM:300463, OMIM:309500, RefSeq DNA:NG_015967, RefSeq DNA:NT_079573, RefSeq Protein:NP_001027553, RefSeq Protein:NP_001027554, RefSeq Protein:NP_001027555, RefSeq Protein:NP_001027556, RefSeq Protein:NP_001161461, RefSeq Protein:NP_001161462, RefSeq Protein:NP_001161464, RefSeq Protein:NP_005701, RefSeq Protein:NP_652766, RefSeq RNA:NM_001032381, RefSeq RNA:NM_001032382, RefSeq RNA:NM_001032383, RefSeq RNA:NM_001032384, RefSeq RNA:NM_001167989, RefSeq RNA:NM_001167990, RefSeq RNA:NM_001167992, RefSeq RNA:NM_005710, RefSeq RNA:NM_144495, UCSC Genome Browser:NM_005710, UniProtKB:O60828 No chrX 48755160 48760422 48897862 48903145 +PA164725009 84366 HGNC:30591 ENSG00000159182 PRAC1 small nuclear protein PRAC1 """prostate cancer susceptibility candidate"", ""prostate cancer susceptibility candidate 1"", ""prostate, rectum and colon""" C17orf92, PRAC Yes No Ensembl:ENSG00000159182, GeneCard:PRAC, HGNC:HGNC:30591, HumanCyc Gene:HS08366, NCBI Gene:84366, OMIM:609819, RefSeq DNA:NT_010783, RefSeq Protein:NP_115767, RefSeq RNA:NM_032391, UniProtKB:Q96KF2 No chr17 46799081 46799882 48721719 48722520 +PA165432260 360205 HGNC:30143 ENSG00000229637 PRAC2 small nuclear protein PRAC2 """HOXB cluster antisense RNA 5"", ""prostate cancer susceptibility candidate 2"", ""prostate, rectum and colon 2""" C17orf93, HOXB-AS5, HOXB13-AS1, NCRNA00253, PRAC2 Yes No Ensembl:ENSG00000229637, GeneCard:NCRNA00253, HGNC:HGNC:30143, NCBI Gene:360205, OMIM:610787, RefSeq DNA:NT_010783, RefSeq RNA:NR_024103, RefSeq RNA:NR_024103.1 No chr17 46800542 46802119 48720802 48724758 +PA25895 84279 HGNC:16047 ENSG00000135617 protease associated domain containing 1 PRADC1 protease-associated domain containing 1, protease-associated domain-containing glycoprotein 21 kDa C2orf7, MGC13004, PAP21, hPAP21 Yes No Ensembl:ENSG00000135617, GenAtlas:C2orf7, GeneCard:C2orf7, HGNC:HGNC:16047, HumanCyc Gene:HS06036, ModBase:Q9BSG0, NCBI Gene:84279, RefSeq DNA:NT_022184, RefSeq Protein:NP_115695, RefSeq RNA:NM_032319, UCSC Genome Browser:NM_032319, UniProtKB:Q2Z1P2, UniProtKB:Q9BSG0 No chr2 73455134 73460356 73228006 73233228 +PA134955002 11230 HGNC:28911 ENSG00000243279 PRA1 domain family member 2 PRAF2 PRA1 domain family, member 2 JM4, Yip6a Yes No Comparative Toxicogenomics Database:11230, Ensembl:ENSG00000243279, GeneCard:PRAF2, HGNC:HGNC:28911, NCBI Gene:11230, RefSeq DNA:NT_079573, RefSeq Protein:NP_009144, RefSeq RNA:NM_007213, UniProtKB:O60831 No chrX 48928818 48931662 49071156 49074045 +PA166181606 157285 HGNC:25438 ENSG00000275342 PEAK1 related, kinase-activating pseudokinase 1 PRAG1 """PEAK family member 2"", ""Pragmin, RND2 effector protein"", ""sugen kinase 223""" DKFZp761P0423, NACK, PEAK2, PRAGMIN, SgK223 Yes No Ensembl:ENSG00000275342, HGNC:HGNC:25438, NCBI Gene:157285 No 0 0 0 0 +PA142671137 84106 HGNC:30091 ENSG00000133246 PML-RARA regulated adaptor molecule 1 PRAM1 PML-RAR Yes No Comparative Toxicogenomics Database:84106, Ensembl:ENSG00000133246, GeneCard:PRAM1, HGNC:HGNC:30091, HumanCyc Gene:HS13468, ModBase:Q96QH2, NCBI Gene:84106, OMIM:606466, RefSeq DNA:NT_077812, RefSeq Protein:NP_115528, RefSeq RNA:NM_032152, UniProtKB:Q96QH2 No chr19 8554940 8567538 8490055 8502654 +PA33698 23532 HGNC:9336 ENSG00000185686 PRAME nuclear receptor transcriptional regulator PRAME cancer/testis antigen 130, preferentially expressed antigen in melanoma CT130, MAPE Yes No Comparative Toxicogenomics Database:23532, Ensembl:ENSG00000185686, GenAtlas:PRAME, GeneCard:PRAME, HGNC:HGNC:9336, ModBase:P78395, NCBI Gene:23532, OMIM:606021, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520, RefSeq Protein:NP_006106, RefSeq Protein:NP_996836, RefSeq Protein:NP_996837, RefSeq Protein:NP_996838, RefSeq Protein:NP_996839, RefSeq RNA:NM_006115, RefSeq RNA:NM_206953, RefSeq RNA:NM_206954, RefSeq RNA:NM_206955, RefSeq RNA:NM_206956, UCSC Genome Browser:NM_006115, UniProtKB:P78395 No chr22 22890123 22901696 22547696 22559765 +PA142671138 65121 HGNC:28840 ENSG00000116721 PRAME family member 1 PRAMEF1 Yes No Ensembl:ENSG00000116721, GeneCard:PRAMEF1, HGNC:HGNC:28840, HumanCyc Gene:HS12880, ModBase:O95521, NCBI Gene:65121, RefSeq DNA:NT_021937, RefSeq Protein:NP_075389, RefSeq RNA:NM_023013, UniProtKB:O95521 No chr1 12851546 12856777 12791397 12796628 +PA142671147 343071 HGNC:27997 ENSG00000187545 PRAME family member 10 PRAMEF10 Yes No Ensembl:ENSG00000187545, GeneCard:PRAMEF10, HGNC:HGNC:27997, ModBase:O60809, NCBI Gene:343071, RefSeq DNA:NT_021937, RefSeq Protein:NP_001034450, RefSeq RNA:NM_001039361, UniProtKB:O60809 No chr1 12952727 12958094 12892896 12898270 +PA142671148 440560 HGNC:14086 ENSG00000157358, ENSG00000204501, ENSG00000204513 PRAME family member 11 PRAMEF11 Yes No Ensembl:ENSG00000157358, Ensembl:ENSG00000204501, Ensembl:ENSG00000204513, GeneCard:PRAMEF11, HGNC:HGNC:14086, NCBI Gene:440560, RefSeq DNA:NT_021937, RefSeq Protein:NP_001139816, RefSeq Protein:XP_002342073, RefSeq RNA:NM_001146344, RefSeq RNA:XM_002342032, UniProtKB:O60813 No chr1 12884468 12891264 12824380 12831410 +PA145148158 390999 HGNC:22125 ENSG00000116726 PRAME family member 12 PRAMEF12 OTTHUMG00000001927 Yes No Ensembl:ENSG00000116726, GeneCard:PRAMEF12, HGNC:HGNC:22125, ModBase:O95522, NCBI Gene:390999, RefSeq DNA:NT_021937, RefSeq Protein:NP_001074299, RefSeq RNA:NM_001080830, UniProtKB:O95522 No chr1 12834984 12838049 12774848 12777906 +PA145148169 400736 HGNC:13262 ENSG00000279169 PRAME family member 13 PRAMEF13 OTTHUMG00000008034 Yes No Ensembl:ENSG00000279169, GeneCard:PRAMEF13, HGNC:HGNC:13262, ModBase:Q5VWM6, NCBI Gene:400736, RefSeq DNA:NT_004610, RefSeq Protein:NP_001019832, RefSeq RNA:NM_001024661, UniProtKB:Q5VWM6 No chr1 13447414 13452656 13196188 13201409 +PA145148171 729528 HGNC:13576 ENSG00000204481 PRAME family member 14 PRAMEF14 OTTHUMG00000007916 Yes No Ensembl:ENSG00000204481, GeneCard:PRAMEF14, HGNC:HGNC:13576, ModBase:Q5SWL7, NCBI Gene:729528, RefSeq DNA:NT_004610, RefSeq Protein:NP_001093324, RefSeq RNA:NM_001099854, UniProtKB:Q5SWL7 No chr1 13668269 13673511 13341892 13347134 +PA145148173 653619 HGNC:26764 ENSG00000204501 PRAME family member 15 PRAMEF15 OTTHUMG00000007921 Yes No Ensembl:ENSG00000204501, GeneCard:PRAMEF15, HGNC:HGNC:26764, NCBI Gene:653619, RefSeq DNA:NT_004610, RefSeq Protein:NP_001091846, RefSeq RNA:NM_001098376 No chr1 13641973 13648987 13315581 13322595 +PA166352059 HGNC:25767 PRAME family member 16 PRAMEF16 OTTHUMG00000002933 Yes No HGNC:HGNC:25767 No 0 0 0 0 +PA145148194 391004 HGNC:29485 ENSG00000204479 PRAME family member 17 PRAMEF17 OTTHUMG00000007909 Yes No Ensembl:ENSG00000204479, GeneCard:PRAMEF17, HGNC:HGNC:29485, ModBase:Q5VTA0, NCBI Gene:391004, RefSeq DNA:NT_004610, RefSeq Protein:NP_001093321, RefSeq RNA:NM_001099851, UniProtKB:Q5VTA0 No chr1 13716088 13719064 13389632 13392629 +PA145148195 391003 HGNC:30693 ENSG00000279804 PRAME family member 18 PRAMEF18 OTTHUMG00000002932 Yes No Ensembl:ENSG00000279804, GeneCard:PRAMEF18, HGNC:HGNC:30693, ModBase:Q5VWM3, NCBI Gene:391003, RefSeq DNA:NT_004610, RefSeq Protein:NP_001093320, RefSeq RNA:NM_001099850, UniProtKB:Q5VWM3 No chr1 13474053 13477569 13222695 13226154 +PA145148196 645414 HGNC:24908 ENSG00000204480 PRAME family member 19 PRAMEF19 OTTHUMG00000007919 Yes No Ensembl:ENSG00000204480, GeneCard:PRAMEF19, HGNC:HGNC:24908, ModBase:Q5SWL8, NCBI Gene:645414, RefSeq DNA:NT_004610, RefSeq Protein:NP_001093260, RefSeq RNA:NM_001099790 No chr1 13694889 13698405 13368431 13371947 +PA142671139 65122 HGNC:28841 ENSG00000120952 PRAME family member 2 PRAMEF2 FLJ43580 Yes No Ensembl:ENSG00000120952, GeneCard:PRAMEF2, HGNC:HGNC:28841, HumanCyc Gene:HS13008, ModBase:O60811, NCBI Gene:65122, RefSeq DNA:NT_021937, RefSeq Protein:NP_075390, RefSeq RNA:NM_023014, UniProtKB:O60811 No chr1 12916941 12921764 12857086 12861909 +PA145148198 645425 HGNC:25224 ENSG00000204478 PRAME family member 20 PRAMEF20 OTTHUMG00000007911, OTTHUMT00000008157, PRAMEF21 Yes No Ensembl:ENSG00000204478, GeneCard:PRAMEF20, HGNC:HGNC:25224, NCBI Gene:645425, RefSeq DNA:NT_004610, RefSeq Protein:NP_001093322, RefSeq RNA:NM_001099852, UniProtKB:Q5VT98 No chr1 13736907 13747803 13410450 13421328 +PA162400009 653606 HGNC:34393 ENSG00000276816 PRAME family member 22 PRAMEF22 PRAMEF3L Yes No Ensembl:ENSG00000276816, GeneCard:PRAMEF22, HGNC:HGNC:34393, ModBase:A3QJZ6, NCBI Gene:653606, RefSeq DNA:NT_021937, RefSeq Protein:NP_001094101, RefSeq RNA:NM_001100631, UniProtKB:A3QJZ6 No chr1 13035543 13038381 18521 23071 +PA166123726 441873 HGNC:49179 ENSG00000229571 PRAME family member 25 PRAMEF25 Yes No Ensembl:ENSG00000229571, HGNC:HGNC:49179, NCBI Gene:441873 No +PA166123727 645359 HGNC:49178 ENSG00000280267 PRAME family member 26 PRAMEF26 Yes No Ensembl:ENSG00000280267, HGNC:HGNC:49178, NCBI Gene:645359 No +PA166181607 101929983 HGNC:51234 ENSG00000274764 PRAME family member 27 PRAMEF27 Yes No Ensembl:ENSG00000274764, HGNC:HGNC:51234, NCBI Gene:101929983 No 0 0 0 0 +PA166352058 HGNC:14087 PRAME family member 3 PRAMEF3 Yes No HGNC:HGNC:14087 No 0 0 0 0 +PA166181608 645382 HGNC:49193 ENSG00000237700 PRAME family member 33 PRAMEF33 PRAMEF33P Yes No Ensembl:ENSG00000237700, HGNC:HGNC:49193, NCBI Gene:645382 No 0 0 0 0 +PA142671141 400735 HGNC:31971 ENSG00000243073 PRAME family member 4 PRAMEF4 RP5-845O24.6 Yes No Ensembl:ENSG00000243073, GeneCard:PRAMEF4, HGNC:HGNC:31971, ModBase:O60810, NCBI Gene:400735, RefSeq DNA:NT_021937, RefSeq Protein:NP_001009611, RefSeq RNA:NM_001009611, UniProtKB:O60810 No chr1 12939033 12946025 12879212 12886201 +PA142671142 343068 HGNC:27995 ENSG00000270601 PRAME family member 5 PRAMEF5 PRAMEF23, PRAMEF5L Yes No Ensembl:ENSG00000270601, GeneCard:PRAMEF5, HGNC:HGNC:27995, ModBase:Q5TYX0, NCBI Gene:343068, RefSeq DNA:NT_004610, RefSeq Protein:NP_001013425, RefSeq RNA:NM_001013407, UniProtKB:Q5TYX0 No chr1 13359819 13369057 13254198 13263435 +PA142671143 440561 HGNC:30583 ENSG00000232423 PRAME family member 6 PRAMEF6 Yes No Ensembl:ENSG00000232423, GeneCard:PRAMEF6, HGNC:HGNC:30583, ModBase:Q5VXH4, NCBI Gene:440561, RefSeq DNA:NT_021937, RefSeq Protein:NP_001010889, RefSeq RNA:NM_001010889, UniProtKB:Q5VXH4 No chr1 12998302 13007406 12938472 12947580 +PA142671144 441871 HGNC:28415 ENSG00000204510 PRAME family member 7 PRAMEF7 Yes No Ensembl:ENSG00000204510, GeneCard:PRAMEF7, HGNC:HGNC:28415, ModBase:Q5VXH5, NCBI Gene:441871, RefSeq DNA:NT_021937, RefSeq Protein:NP_001012277, RefSeq RNA:NM_001012277, UniProtKB:Q5VXH5 No chr1 12976467 12980300 12916647 12920480 +PA142671145 391002 HGNC:24074 ENSG00000182330 PRAME family member 8 PRAMEF8 Yes No Ensembl:ENSG00000182330, GeneCard:PRAMEF8, HGNC:HGNC:24074, ModBase:Q5VWM4, NCBI Gene:391002, RefSeq DNA:NT_004610, RefSeq Protein:NP_001012276, RefSeq RNA:NM_001012276, UniProtKB:Q5VWM4 No chr1 13386646 13390765 13281223 13285137 +PA142671146 343070 HGNC:27996 ENSG00000157358, ENSG00000204501 PRAME family member 9 PRAMEF9 Yes No Ensembl:ENSG00000157358, Ensembl:ENSG00000204501, GeneCard:PRAMEF9, HGNC:HGNC:27996, ModBase:Q5VWM5, NCBI Gene:343070, RefSeq DNA:NT_004610, RefSeq Protein:NP_001010890, RefSeq RNA:NM_001010890, UniProtKB:Q5VWM5 No chr1 13421176 13428191 13175281 13179132 +PA134981678 118471 HGNC:23304 ENSG00000165828 proline rich acidic protein 1 PRAP1 proline-rich acidic protein 1 UPA Yes No Comparative Toxicogenomics Database:118471, Ensembl:ENSG00000165828, GeneCard:PRAP1, HGNC:HGNC:23304, HumanCyc Gene:HS15372, NCBI Gene:118471, OMIM:609776, RefSeq DNA:NT_008818, RefSeq Protein:NP_001138673, RefSeq Protein:NP_660203, RefSeq RNA:NM_001145201, RefSeq RNA:NM_145202, UniProtKB:A6XND8, UniProtKB:Q96NZ9 No chr10 135148362 135166187 133347340 133352683 +PA33699 5542 HGNC:9337 ENSG00000251655 proline rich protein BstNI subfamily 1 PRB1 proline rich protein BstNI subfamily 1 (gene/pseudogene), proline-rich protein BstNI subfamily 1 PM, PMF, PMS, PRB1L, PRB1M Yes No Ensembl:ENSG00000251655, GenAtlas:PRB1, GeneCard:PRB1, HGNC:HGNC:9337, ModBase:P04280, NCBI Gene:5542, OMIM:180989, RefSeq DNA:NT_009714, RefSeq Protein:NP_005030, RefSeq Protein:NP_955385, RefSeq Protein:NP_955386, RefSeq RNA:NM_005039, RefSeq RNA:NM_199353, RefSeq RNA:NM_199354, UCSC Genome Browser:NM_005039, UniProtKB:P04280 No chr12 11504757 11508524 11351823 11355590 +PA33700 653247 HGNC:9338 ENSG00000121335 proline rich protein BstNI subfamily 2 PRB2 proline-rich protein BstNI subfamily 2 PRPPRB1, Ps, cP7 Yes Yes Ensembl:ENSG00000121335, GenAtlas:PRB2, GeneCard:PRB2, HGNC:HGNC:9338, NCBI Gene:653247, OMIM:168810, RefSeq DNA:NT_009714, RefSeq Protein:NP_006239, RefSeq RNA:NM_006248 No chr12 11544474 11548498 11391540 11395564 +PA33701 5544 HGNC:9339 ENSG00000197870 proline rich protein BstNI subfamily 3 PRB3 proline-rich protein BstNI subfamily 3 PRG Yes No Ensembl:ENSG00000197870, GenAtlas:PRB3, GeneCard:PRB3, HGNC:HGNC:9339, HumanCyc Gene:HS04484, ModBase:Q04118, NCBI Gene:5544, OMIM:168840, RefSeq DNA:NG_013305, RefSeq DNA:NT_009714, RefSeq Protein:NP_006240, RefSeq RNA:NM_006249, UCSC Genome Browser:NM_006249, UniProtKB:Q04118 No chr12 11418847 11422656 11265914 11269707 +PA33702 5545 HGNC:9340 ENSG00000230657 proline rich protein BstNI subfamily 4 PRB4 proline-rich protein BstNI subfamily 4 Yes No Ensembl:ENSG00000230657, GenAtlas:PRB4, GeneCard:PRB4, HGNC:HGNC:9340, HumanCyc Gene:HS11018, NCBI Gene:5545, OMIM:180990, RefSeq DNA:NT_009714, RefSeq Protein:NP_002714, RefSeq RNA:NM_002723, UCSC Genome Browser:NM_002723, UniProtKB:P10163 No chr12 11460015 11463369 11307081 11310435 +PA33703 9055 HGNC:9341 ENSG00000198901 protein regulator of cytokinesis 1 PRC1 anaphase spindle elongation 1 homolog (S. cerevisiae) ASE1, MAP65 Yes No Comparative Toxicogenomics Database:9055, Ensembl:ENSG00000198901, GenAtlas:PRC1, GeneCard:PRC1, HGNC:HGNC:9341, NCBI Gene:9055, OMIM:603484, RefSeq DNA:NT_010274, RefSeq Protein:NP_003972, RefSeq Protein:NP_955445, RefSeq Protein:NP_955446, RefSeq RNA:NM_003981, RefSeq RNA:NM_199413, RefSeq RNA:NM_199414, UCSC Genome Browser:NM_003981, UniProtKB:O43663 No chr15 91509268 91537881 90966038 90994651 +PA33704 5546 HGNC:9343 ENSG00000143294 proline rich mitotic checkpoint control factor PRCC papillary renal cell carcinoma (translocation-associated) RCCP1 Yes No Comparative Toxicogenomics Database:5546, Ensembl:ENSG00000143294, GenAtlas:PRCC, GeneCard:PRCC, HGNC:HGNC:9343, HumanCyc Gene:HS07019, ModBase:Q92733, NCBI Gene:5546, OMIM:179755, OMIM:605074, RefSeq DNA:NG_008138, RefSeq DNA:NT_004487, RefSeq Protein:NP_005964, RefSeq Protein:NP_955448, RefSeq RNA:NM_005973, RefSeq RNA:NM_199416, UCSC Genome Browser:NM_005973, UniProtKB:A6NG79, UniProtKB:Q92733, UniProtKB:Q96FT4 No chr1 156737274 156770609 156767482 156800819 +PA162400025 768206 HGNC:32528 ENSG00000214140 photoreceptor disc component PRCD progressive rod-cone degeneration RP36 Yes No Ensembl:ENSG00000214140, GeneCard:PRCD, HGNC:HGNC:32528, NCBI Gene:768206, OMIM:610598, OMIM:610599, RefSeq DNA:NG_016702, RefSeq DNA:NT_010783, RefSeq Protein:NP_001071088, RefSeq RNA:NM_001077620, RefSeq RNA:NR_033357, UniProtKB:Q00LT1 No chr17 74523668 74541458 76527586 76555339 +PA33705 5547 HGNC:9344 ENSG00000137509 prolylcarboxypeptidase PRCP angiotensinase C, prolylcarboxypeptidase (angiotensinase C) HUMPCP, PCP Yes Yes Comparative Toxicogenomics Database:5547, Ensembl:ENSG00000137509, GenAtlas:PRCP, GeneCard:PRCP, HGNC:HGNC:9344, HumanCyc Gene:HS06356, ModBase:P42785, NCBI Gene:5547, OMIM:176785, RefSeq DNA:NT_167190, RefSeq Protein:NP_005031, RefSeq Protein:NP_955450, RefSeq RNA:NM_005040, RefSeq RNA:NM_199418, UCSC Genome Browser:NM_005040, UniProtKB:A8MU24, UniProtKB:B3KRK5, UniProtKB:P42785 No chr11 82535409 82612733 82822940 82901740 +PA33707 639 HGNC:9346 ENSG00000057657 PR/SET domain 1 PRDM1 PR domain containing 1, with ZNF domain BLIMP1, Blimp-1, PRDI-BF1 Yes Yes Comparative Toxicogenomics Database:639, Ensembl:ENSG00000057657, GenAtlas:PRDM1, GeneCard:PRDM1, HGNC:HGNC:9346, HumanCyc Gene:HS00711, ModBase:O75626, NCBI Gene:639, OMIM:603423, RefSeq DNA:NT_025741, RefSeq Protein:NP_001189, RefSeq Protein:NP_878911, RefSeq RNA:NM_001198, RefSeq RNA:NM_182907, UCSC Genome Browser:NM_001198, UniProtKB:O75626, UniProtKB:Q86WM7 No chr6 106534195 106557814 106046729 106109939 +PA33708 56980 HGNC:13995 ENSG00000170325 PR/SET domain 10 PRDM10 PR domain containing 10, PR-domain family member 7, PRDM zinc finger transcription factor, tristanin KIAA1231, MGC131802, PFM7 Yes No Ensembl:ENSG00000170325, GenAtlas:PRDM10, GeneCard:PRDM10, HGNC:HGNC:13995, HumanCyc Gene:HS10104, NCBI Gene:56980, RefSeq DNA:NT_033899, RefSeq Protein:NP_064613, RefSeq Protein:NP_955469, RefSeq Protein:NP_955470, RefSeq Protein:NP_955471, RefSeq RNA:NM_020228, RefSeq RNA:NM_199437, RefSeq RNA:NM_199438, RefSeq RNA:NM_199439, UCSC Genome Browser:NM_020228, UniProtKB:Q9NQV6 No chr11 129769601 129872730 129899706 130003097 +PA33709 56981 HGNC:13996 ENSG00000019485 PR/SET domain 11 PRDM11 PR domain containing 11, PR-domain containing protein 11 PFM8 Yes No Ensembl:ENSG00000019485, GenAtlas:PRDM11, GeneCard:PRDM11, HGNC:HGNC:13996, HumanCyc Gene:HS12060, ModBase:Q9NQV5, NCBI Gene:56981, RefSeq DNA:NT_009237, RefSeq Protein:NP_064614, RefSeq RNA:NM_020229, UCSC Genome Browser:NM_020229, UniProtKB:Q8N9F1, UniProtKB:Q9NQV5 No chr11 45115564 45256675 45094013 45235124 +PA33710 59335 HGNC:13997 ENSG00000130711 PR/SET domain 12 PRDM12 PR domain containing 12, PR-domain containing protein 12, PR-domain zinc finger protein 12 PFM9 Yes No Comparative Toxicogenomics Database:59335, Ensembl:ENSG00000130711, GenAtlas:PRDM12, GeneCard:PRDM12, HGNC:HGNC:13997, HumanCyc Gene:HS05426, ModBase:Q9H4Q4, NCBI Gene:59335, RefSeq DNA:NT_035014, RefSeq Protein:NP_067632, RefSeq RNA:NM_021619, UCSC Genome Browser:NM_021619, UniProtKB:Q9H4Q4 No chr9 133539981 133558384 130664594 130682997 +PA33711 59336 HGNC:13998 ENSG00000112238 PR/SET domain 13 PRDM13 PR domain containing 13 PFM10 Yes No Ensembl:ENSG00000112238, GenAtlas:PRDM13, GeneCard:PRDM13, HGNC:HGNC:13998, HumanCyc Gene:HS03539, ModBase:Q9H4Q3, NCBI Gene:59336, RefSeq DNA:NT_025741, RefSeq Protein:NP_067633, RefSeq RNA:NM_021620, UCSC Genome Browser:NM_021620, UniProtKB:Q5TGC2, UniProtKB:Q9H4Q3 No chr6 100054650 100063454 99606774 99615578 +PA33712 63978 HGNC:14001 ENSG00000147596 PR/SET domain 14 PRDM14 PR domain containing 14 Yes No Ensembl:ENSG00000147596, GenAtlas:PRDM14, GeneCard:PRDM14, HGNC:HGNC:14001, HumanCyc Gene:HS07453, ModBase:Q9GZV8, NCBI Gene:63978, OMIM:611781, RefSeq DNA:NT_008183, RefSeq Protein:NP_078780, RefSeq RNA:NM_024504, UCSC Genome Browser:NM_024504, UniProtKB:Q9GZV8 No chr8 70963886 70983562 70051126 70071327 +PA33713 63977 HGNC:13999 ENSG00000141956 PR/SET domain 15 PRDM15 PR domain containing 15 C21orf83, ZNF298 Yes No Ensembl:ENSG00000141956, GenAtlas:PRDM15, GeneCard:PRDM15, HGNC:HGNC:13999, ModBase:P57071, NCBI Gene:63977, RefSeq DNA:NT_011515, RefSeq Protein:NP_001035514, RefSeq Protein:NP_071398, RefSeq RNA:NM_001040424, RefSeq RNA:NM_022115, UCSC Genome Browser:NM_144771, UniProtKB:P57071, UniProtKB:Q4W8S5 No chr21 43218385 43299591 41798225 41879482 +PA33714 63976 HGNC:14000 ENSG00000142611 PR/SET domain 16 PRDM16 MDS1/EVI1-like, PR domain containing 16, PR-domain zinc finger protein 16, transcription factor MEL1 KIAA1675, KMT8F, MEL1, MGC166915, PFM13 Yes Yes Comparative Toxicogenomics Database:63976, Ensembl:ENSG00000142611, GenAtlas:PRDM16, GeneCard:PRDM16, HGNC:HGNC:14000, HumanCyc Gene:HS06942, ModBase:Q9HAZ2, NCBI Gene:63976, OMIM:605557, RefSeq DNA:NT_004350, RefSeq Protein:NP_071397, RefSeq Protein:NP_955533, RefSeq RNA:NM_022114, RefSeq RNA:NM_199454, UCSC Genome Browser:NM_022114, UniProtKB:Q9HAZ2 No chr1 2985565 3355185 3069025 3438621 +PA33715 7799 HGNC:9347 ENSG00000116731 PR/SET domain 2 PRDM2 """GATA-3 binding protein G3B"", ""MTE-binding protein"", ""PR domain containing 2, with ZNF domain"", ""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""zinc-finger DNA-binding protein""" HUMHOXY1, KMT8, KMT8A, MTB-ZF, RIZ, RIZ1, RIZ2 Yes No Comparative Toxicogenomics Database:7799, Ensembl:ENSG00000116731, GenAtlas:PRDM2, GeneCard:PRDM2, HGNC:HGNC:9347, HumanCyc Gene:HS04042, ModBase:Q13029, NCBI Gene:7799, OMIM:601196, RefSeq DNA:NT_004610, RefSeq Protein:NP_001007258, RefSeq Protein:NP_001129082, RefSeq Protein:NP_036363, RefSeq Protein:NP_056950, RefSeq RNA:NM_001007257, RefSeq RNA:NM_001135610, RefSeq RNA:NM_012231, RefSeq RNA:NM_015866, UCSC Genome Browser:NM_012231, UniProtKB:B1AJZ4, UniProtKB:Q13029, UniProtKB:Q5THJ1 No chr1 14026714 14151574 13698875 13825079 +PA33716 11108 HGNC:9348 ENSG00000110851 PR/SET domain 4 PRDM4 PR domain containing 4 PFM1 Yes No Comparative Toxicogenomics Database:11108, Ensembl:ENSG00000110851, GenAtlas:PRDM4, GeneCard:PRDM4, HGNC:HGNC:9348, HumanCyc Gene:HS03345, ModBase:Q9UKN5, NCBI Gene:11108, OMIM:605780, RefSeq DNA:NT_029419, RefSeq Protein:NP_036538, RefSeq RNA:NM_012406, UCSC Genome Browser:NM_012406, UniProtKB:B3KPI0, UniProtKB:Q9UKN5 No chr12 108126643 108155049 107732866 107761137 +PA33717 11107 HGNC:9349 ENSG00000138738 PR/SET domain 5 PRDM5 PR domain containing 5 PFM2 Yes No Ensembl:ENSG00000138738, GenAtlas:PRDM5, GeneCard:PRDM5, HGNC:HGNC:9349, HumanCyc Gene:HS06543, ModBase:Q9NQX1, NCBI Gene:11107, RefSeq DNA:NT_016354, RefSeq Protein:NP_061169, RefSeq RNA:NM_018699, UCSC Genome Browser:NM_018699, UniProtKB:Q9NQX1 No chr4 121613070 121844013 120684907 120922866 +PA33718 93166 HGNC:9350 ENSG00000061455 PR/SET domain 6 PRDM6 PR domain containing 6 KMT8C, PRISM Yes No Comparative Toxicogenomics Database:93166, Ensembl:ENSG00000061455, GenAtlas:PRDM6, GeneCard:PRDM6, HGNC:HGNC:9350, HumanCyc Gene:HS00755, NCBI Gene:93166, RefSeq DNA:NT_034772, RefSeq Protein:NP_001129711, RefSeq RNA:NM_001136239, UniProtKB:Q9NQX0 No chr5 122424841 122529960 123089146 123194266 +PA33719 11105 HGNC:9351 ENSG00000126856 PR/SET domain 7 PRDM7 PR domain containing 7 ZNF910 Yes No Ensembl:ENSG00000126856, GenAtlas:PRDM7, GeneCard:PRDM7, HGNC:HGNC:9351, HumanCyc Gene:HS09047, ModBase:Q9NQW5, NCBI Gene:11105, OMIM:609759, RefSeq DNA:NT_010542, RefSeq Protein:NP_001091643, RefSeq Protein:NP_443722, RefSeq RNA:NM_001098173, RefSeq RNA:NM_052996, UCSC Genome Browser:NM_052996, UniProtKB:Q9NQW5 No chr16 90122974 90143708 90056566 90077339 +PA33720 56978 HGNC:13993 ENSG00000152784 PR/SET domain 8 PRDM8 PR domain containing 8 KMT8D Yes No Ensembl:ENSG00000152784, GenAtlas:PRDM8, GeneCard:PRDM8, HGNC:HGNC:13993, HumanCyc Gene:HS14446, ModBase:Q9NQV8, NCBI Gene:56978, RefSeq DNA:NT_016354, RefSeq Protein:NP_001092873, RefSeq Protein:NP_064611, RefSeq RNA:NM_001099403, RefSeq RNA:NM_020226, UCSC Genome Browser:NM_020226, UniProtKB:Q05CA1, UniProtKB:Q9NQV8 No chr4 81105033 81125483 80183418 80204329 +PA33721 56979 HGNC:13994 ENSG00000164256 PR/SET domain 9 PRDM9 PR domain containing 9, PR-domain containing protein 9, histone-lysine N-methyltransferase PRDM9 KMT8B, MSBP3, Meisetz, PFM6, ZNF899 Yes No Ensembl:ENSG00000164256, GenAtlas:MSBP3, GenAtlas:PRDM9, GeneCard:MSBP3, GeneCard:PRDM9, HGNC:HGNC:13994, ModBase:Q9NQV7, NCBI Gene:56979, OMIM:609760, RefSeq DNA:NT_006576, RefSeq Protein:NP_064612, RefSeq RNA:NM_020227, UCSC Genome Browser:NM_020227, UniProtKB:Q9NQV7 No chr5 23507724 23528706 23507609 23528597 +PA33722 5052 HGNC:9352 ENSG00000117450 peroxiredoxin 1 PRDX1 NKEFA, PAGA Yes No Comparative Toxicogenomics Database:5052, Ensembl:ENSG00000117450, GenAtlas:PRDX1, GeneCard:PRDX1, HGNC:HGNC:9352, HumanCyc Gene:HS04134, ModBase:Q06830, NCBI Gene:5052, OMIM:176763, RefSeq DNA:NT_032977, RefSeq Protein:NP_001189360, RefSeq Protein:NP_002565, RefSeq Protein:NP_859047, RefSeq Protein:NP_859048, RefSeq RNA:NM_001202431, RefSeq RNA:NM_002574, RefSeq RNA:NM_181696, RefSeq RNA:NM_181697, UCSC Genome Browser:NM_002574, UniProtKB:Q06830 No chr1 45976707 45988562 45511035 45522890 +PA33723 7001 HGNC:9353 ENSG00000167815 peroxiredoxin 2 PRDX2 natural killer-enhancing factor B, thiol-specific antioxidant 1, thioredoxin peroxidase 1, thioredoxin-dependent peroxide reductase 1, torin MGC4104, NKEFB, PRP, PRX2, PRXII, TDPX1, TSA Yes No Comparative Toxicogenomics Database:7001, Ensembl:ENSG00000167815, GenAtlas:PRDX2, GeneCard:PRDX2, HGNC:HGNC:9353, HumanCyc Gene:HS09645, ModBase:P32119, NCBI Gene:7001, OMIM:600538, RefSeq DNA:NT_011295, RefSeq Protein:NP_005800, RefSeq Protein:NP_859428, RefSeq RNA:NM_005809, RefSeq RNA:NM_181738, UCSC Genome Browser:NM_005809, UniProtKB:A8K0C0, UniProtKB:P32119 No chr19 12907634 12912724 12796820 12801910 +PA134969017 359844 HGNC:30020 ENSG00000215049 peroxiredoxin 2 pseudogene 1 PRDX2P1 Yes No Ensembl:ENSG00000215049, GeneCard:PRDX2P1, HGNC:HGNC:30020, NCBI Gene:359844, RefSeq DNA:NG_002915, RefSeq DNA:NT_024524 No chr13 30870205 30871124 30296068 30296987 +PA33724 10935 HGNC:9354 ENSG00000165672 peroxiredoxin 3 PRDX3 AOP-1, AOP1, MER5, SP-22 Yes No Comparative Toxicogenomics Database:10935, Ensembl:ENSG00000165672, GenAtlas:PRDX3, GeneCard:PRDX3, HGNC:HGNC:9354, HumanCyc Gene:HS09265, ModBase:P30048, NCBI Gene:10935, OMIM:604769, RefSeq DNA:NT_030059, RefSeq Protein:NP_006784, RefSeq Protein:NP_054817, RefSeq RNA:NM_006793, RefSeq RNA:NM_014098, UCSC Genome Browser:NM_006793, UniProtKB:P30048 No chr10 120927215 120938377 119167699 119178865 +PA33725 10549 HGNC:17169 ENSG00000123131 peroxiredoxin 4 PRDX4 AOE37-2 Yes Yes Comparative Toxicogenomics Database:10549, Ensembl:ENSG00000123131, GenAtlas:PRDX4, GeneCard:PRDX4, HGNC:HGNC:17169, HumanCyc Gene:HS04632, ModBase:Q13162, NCBI Gene:10549, OMIM:606506, RefSeq DNA:NG_012563, RefSeq DNA:NT_167197, RefSeq Protein:NP_006397, RefSeq RNA:NM_006406, UCSC Genome Browser:NM_006406, UniProtKB:Q13162 No chrX 23682377 23704516 23664260 23686399 +PA33726 25824 HGNC:9355 ENSG00000126432 peroxiredoxin 5 PRDX5 Alu co-repressor 1, TPx type VI, antioxidant enzyme B166, liver tissue 2D-page spot 71B, peroxisomal antioxidant enzyme, thioredoxin peroxidase PMP20 ACR1, AOEB166, B166, MGC117264, MGC142283, MGC142285, PLP, PMP20, PRDX6, PRXV, SBBI10 Yes No Comparative Toxicogenomics Database:25824, Ensembl:ENSG00000126432, GenAtlas:PRDX5, GeneCard:PRDX5, HGNC:HGNC:9355, HumanCyc Gene:HS05016, ModBase:P30044, NCBI Gene:25824, OMIM:606583, RefSeq DNA:NT_167190, RefSeq Protein:NP_036226, RefSeq Protein:NP_857634, RefSeq Protein:NP_857635, RefSeq RNA:NM_012094, RefSeq RNA:NM_181651, RefSeq RNA:NM_181652, UCSC Genome Browser:NM_012094, UniProtKB:B7ZLJ4, UniProtKB:B7ZVW3, UniProtKB:P30044 No chr11 64085347 64089295 64318088 64321823 +PA134992760 9588 HGNC:16753 ENSG00000117592 peroxiredoxin 6 PRDX6 1-Cys, AOP2, KIAA0106, MGC46173, NSGPx, PRX, aiPLA2, p29 Yes No Comparative Toxicogenomics Database:9588, Ensembl:ENSG00000117592, GeneCard:PRDX6, HGNC:HGNC:16753, HumanCyc Gene:HS04152, ModBase:P30041, NCBI Gene:9588, OMIM:602316, RefSeq DNA:NT_004487, RefSeq Protein:NP_004896, RefSeq RNA:NM_004905, UniProtKB:P30041 No chr1 173446486 173457946 173477347 173488807 +PA33727 10113 HGNC:9356 ENSG00000138073 prolactin regulatory element binding PREB SEC12 Yes No Comparative Toxicogenomics Database:10113, Ensembl:ENSG00000138073, GenAtlas:PREB, GeneCard:PREB, HGNC:HGNC:9356, HumanCyc Gene:HS06446, ModBase:Q9HCU5, NCBI Gene:10113, OMIM:606395, RefSeq DNA:NT_022184, RefSeq Protein:NP_037520, RefSeq RNA:NM_013388, UCSC Genome Browser:NM_013388, UniProtKB:Q53SZ8, UniProtKB:Q9HCU5 No chr2 27353624 27357542 27130756 27134674 +PA162400040 27166 HGNC:30255 ENSG00000169230 PRELI domain containing 1 PRELID1 protein of relevant evolutionary and lymphoid interest, px19-like protein CGI-106, PRELI, PX19 Yes No Ensembl:ENSG00000169230, GeneCard:PRELID1, HGNC:HGNC:30255, HumanCyc Gene:HS09908, NCBI Gene:27166, OMIM:605733, RefSeq DNA:NT_023133, RefSeq Protein:NP_037369, RefSeq RNA:NM_013237, UniProtKB:Q9Y255 No chr5 176730763 176733960 177303762 177306959 +PA162400041 153768 HGNC:28306 ENSG00000186314 PRELI domain containing 2 PRELID2 FLJ38376, MGC21644 Yes No Ensembl:ENSG00000186314, GeneCard:PRELID2, HGNC:HGNC:28306, NCBI Gene:153768, RefSeq DNA:NT_029289, RefSeq Protein:NP_612501, RefSeq Protein:NP_892005, RefSeq Protein:NP_995318, RefSeq RNA:NM_138492, RefSeq RNA:NM_182960, RefSeq RNA:NM_205846, UniProtKB:Q8N945 No chr5 145138582 145214899 145587325 145835369 +PA162403903 10650 HGNC:24639 ENSG00000141391 PRELI domain containing 3A PRELID3A erythroid differentiation and denucleation factor 1, slowmo homolog 1 (Drosophila) C18orf43, FLJ31484, HFL-EDDG1, PRELID3A, SLMO1 Yes No Ensembl:ENSG00000141391, GeneCard:SLMO1, HGNC:HGNC:24639, HumanCyc Gene:HS13876, NCBI Gene:10650, RefSeq DNA:NT_010859, RefSeq Protein:NP_001135877, RefSeq Protein:NP_001135878, RefSeq Protein:NP_006544, RefSeq RNA:NM_001142405, RefSeq RNA:NM_001142406, RefSeq RNA:NM_006553, UniProtKB:B4E0C9, UniProtKB:Q96N28 No chr18 12407895 12432237 12407896 12432238 +PA162403922 51012 HGNC:15892 ENSG00000101166 PRELI domain containing 3B PRELID3B slowmo homolog 2 (Drosophila) C20orf45, PRELID3B, SLMO2, dJ543J19.5 Yes No Ensembl:ENSG00000101166, GeneCard:SLMO2, HGNC:HGNC:15892, HumanCyc Gene:HS12439, NCBI Gene:51012, RefSeq DNA:NT_011362, RefSeq Protein:NP_057129, RefSeq RNA:NM_016045, UniProtKB:Q9Y3B1 No chr20 57608200 57617901 59033145 59042846 +PA33729 5549 HGNC:9357 ENSG00000188783 proline and arginine rich end leucine rich repeat protein PRELP prolargin proteoglycan, proline/arginine-rich end leucine-rich repeat protein SLRR2A, prolargin Yes No Comparative Toxicogenomics Database:5549, Ensembl:ENSG00000188783, GenAtlas:PRELP, GeneCard:PRELP, HGNC:HGNC:9357, ModBase:P51888, NCBI Gene:5549, OMIM:601914, RefSeq DNA:NT_004487, RefSeq Protein:NP_002716, RefSeq Protein:NP_958505, RefSeq RNA:NM_002725, RefSeq RNA:NM_201348, UCSC Genome Browser:NM_002725, UniProtKB:P51888, UniProtKB:Q6FG38 No chr1 203444883 203460480 203475755 203491352 +PA33730 5550 HGNC:9358 ENSG00000085377 prolyl endopeptidase PREP prolyl oligopeptidase Yes No Comparative Toxicogenomics Database:5550, Ensembl:ENSG00000085377, GenAtlas:PREP, GeneCard:PREP, HGNC:HGNC:9358, HumanCyc Gene:HS01492, ModBase:P48147, NCBI Gene:5550, OMIM:600400, RefSeq DNA:NG_011472, RefSeq DNA:NT_025741, RefSeq Protein:NP_002717, RefSeq RNA:NM_002726, UCSC Genome Browser:NM_002726, UniProtKB:P48147, UniProtKB:Q9UM02 No chr6 105725442 105850999 105277567 105403124 +PA142671134 9581 HGNC:30228 ENSG00000138078 prolyl endopeptidase like PREPL prolyl endopeptidase-like KIAA0436 Yes No Ensembl:ENSG00000138078, GeneCard:PREPL, HGNC:HGNC:30228, ModBase:Q4J6C6, NCBI Gene:9581, OMIM:606407, OMIM:609557, RefSeq DNA:NG_016429, RefSeq DNA:NT_022184, RefSeq Protein:NP_001035844, RefSeq Protein:NP_001035845, RefSeq Protein:NP_001165074, RefSeq Protein:NP_001165077, RefSeq Protein:NP_001165084, RefSeq Protein:NP_001165088, RefSeq Protein:NP_006027, RefSeq RNA:NM_001042385, RefSeq RNA:NM_001042386, RefSeq RNA:NM_001171603, RefSeq RNA:NM_001171606, RefSeq RNA:NM_001171613, RefSeq RNA:NM_001171617, RefSeq RNA:NM_006036, UniProtKB:B9A027, UniProtKB:Q4J6C6 No chr2 44544746 44589001 44317607 44361862 +PA164725018 57580 HGNC:32594 ENSG00000124126 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 PREX1 """PIP3 dependent Rac exchange factor 1"", ""phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1""" KIAA1415, P-REX1 Yes No Ensembl:ENSG00000124126, GeneCard:PREX1, HGNC:HGNC:32594, HumanCyc Gene:HS04716, ModBase:Q9P2D2, NCBI Gene:57580, OMIM:606905, RefSeq DNA:NT_011362, RefSeq Protein:NP_065871, RefSeq RNA:NM_020820, UniProtKB:Q8TCU6 No chr20 47240787 47444420 48624252 48827883 +PA164725103 80243 HGNC:22950 ENSG00000046889 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 PREX2 """phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2"", ""protein phosphatase 1, regulatory subunit 129""" DEP.2, DEPDC2, FLJ12987, P-REX2, PPP1R129 Yes No Ensembl:ENSG00000046889, GeneCard:PREX2, HGNC:HGNC:22950, HumanCyc Gene:HS00584, ModBase:Q70Z35, NCBI Gene:80243, OMIM:612139, RefSeq DNA:NT_008183, RefSeq Protein:NP_079146, RefSeq Protein:NP_079446, RefSeq RNA:NM_024870, RefSeq RNA:NM_025170, UniProtKB:Q70Z35 No chr8 68864244 69143897 67951921 68237033 +PA33732 5551 HGNC:9360 ENSG00000180644 perforin 1 PRF1 Perforin, perforin 1 (pore forming protein) HPLH2, P1, PFP Yes Yes Comparative Toxicogenomics Database:5551, Ensembl:ENSG00000180644, GenAtlas:PRF1, GeneCard:PRF1, HGNC:HGNC:9360, HumanCyc Gene:HS11513, ModBase:P14222, NCBI Gene:5551, OMIM:170280, OMIM:603553, OMIM:605027, RefSeq DNA:NG_009615, RefSeq DNA:NT_030059, RefSeq Protein:NP_001076585, RefSeq Protein:NP_005032, RefSeq RNA:NM_001083116, RefSeq RNA:NM_005041, UCSC Genome Browser:NM_005041, UniProtKB:P14222 No chr10 72357104 72362531 70597348 70602775 +PA33734 5553 HGNC:9362 ENSG00000186652 proteoglycan 2, pro eosinophil major basic protein PRG2 """eosinophil major basic protein"", ""proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)""" BMPG, MBP, proMBP Yes No Comparative Toxicogenomics Database:5553, Ensembl:ENSG00000186652, GenAtlas:PRG2, GeneCard:PRG2, HGNC:HGNC:9362, HumanCyc Gene:HS05912, ModBase:P13727, NCBI Gene:5553, OMIM:605601, RefSeq DNA:NT_167190, RefSeq Protein:NP_002719, RefSeq RNA:NM_002728, UCSC Genome Browser:NM_002728, UniProtKB:P13727 No chr11 57154834 57171420 57386787 57390657 +PA33735 10394 HGNC:9363 ENSG00000156575 proteoglycan 3, pro eosinophil major basic protein 2 PRG3 proteoglycan 3 MBP2, MBPH Yes No Comparative Toxicogenomics Database:10394, Ensembl:ENSG00000156575, GenAtlas:PRG3, GeneCard:PRG3, HGNC:HGNC:9363, HumanCyc Gene:HS08141, ModBase:Q9Y2Y8, NCBI Gene:10394, OMIM:606814, RefSeq DNA:NT_167190, RefSeq Protein:NP_006084, RefSeq RNA:NM_006093, UCSC Genome Browser:NM_006093, UniProtKB:Q9Y2Y8 No chr11 57144242 57148623 57376769 57381150 +PA33736 10216 HGNC:9364 ENSG00000116690 proteoglycan 4 PRG4 """Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""articular superficial zone protein"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""lubricin"", ""megakaryocyte stimulating factor""" CACP, FLJ32635, HAPO, JCAP, MSF, SZP, bG174L6.2 Yes No Comparative Toxicogenomics Database:10216, Ensembl:ENSG00000116690, GenAtlas:PRG4, GeneCard:PRG4, HGNC:HGNC:9364, HumanCyc Gene:HS04035, ModBase:Q92954, NCBI Gene:10216, OMIM:208250, OMIM:604283, RefSeq DNA:NG_008248, RefSeq DNA:NT_004487, RefSeq Protein:NP_001121180, RefSeq Protein:NP_001121181, RefSeq Protein:NP_001121182, RefSeq Protein:NP_005798, RefSeq RNA:NM_001127708, RefSeq RNA:NM_001127709, RefSeq RNA:NM_001127710, RefSeq RNA:NM_005807, UCSC Genome Browser:NM_005807, UniProtKB:Q92954 No chr1 186265405 186283688 186296273 186314562 +PA33737 5554 HGNC:9366 ENSG00000231887 proline rich protein HaeIII subfamily 1 PRH1 proline-rich protein HaeIII subfamily 1 Pa Yes No Ensembl:ENSG00000231887, GenAtlas:PRH1, GeneCard:PRH1, HGNC:HGNC:9366, NCBI Gene:5554, OMIM:168730, RefSeq DNA:NT_009714, RefSeq Protein:NP_006241, RefSeq RNA:NM_006250, UCSC Genome Browser:NM_006250 No chr12 11033560 11036874 10880961 11171623 +PA33738 5555 HGNC:9367 ENSG00000134551 proline rich protein HaeIII subfamily 2 PRH2 """acidic salivary proline-rich protein, HaeIII type, 2"", ""parotid proline-rich protein"", ""proline-rich protein HaeIII subfamily 2""" Pr Yes No Ensembl:ENSG00000134551, GenAtlas:PRH2, GeneCard:PRH2, HGNC:HGNC:9367, HumanCyc Gene:HS05885, NCBI Gene:5555, OMIM:168790, RefSeq DNA:NT_009714, RefSeq Protein:NP_001103683, RefSeq Protein:NP_005033, RefSeq RNA:NM_001110213, RefSeq RNA:NM_005042, UCSC Genome Browser:NM_005042, UniProtKB:P02810 No chr12 11081834 11087444 10929236 10934845 +PA134906946 144165 HGNC:17019 ENSG00000139174 prickle planar cell polarity protein 1 PRICKLE1 REST/NRSF interacting LIM domain protein, prickle homolog 1 (Drosophila) EPM1B, FLJ31937, RILP Yes No Comparative Toxicogenomics Database:144165, Ensembl:ENSG00000139174, GeneCard:PRICKLE1, HGNC:HGNC:17019, HumanCyc Gene:HS13763, ModBase:Q96MT3, NCBI Gene:144165, OMIM:608500, OMIM:612437, RefSeq DNA:NG_012965, RefSeq DNA:NT_029419, RefSeq Protein:NP_001138353, RefSeq Protein:NP_001138354, RefSeq Protein:NP_001138355, RefSeq Protein:NP_694571, RefSeq RNA:NM_001144881, RefSeq RNA:NM_001144882, RefSeq RNA:NM_001144883, RefSeq RNA:NM_153026, UniProtKB:B3KVG3, UniProtKB:B3KVG6, UniProtKB:Q96MT3 No chr12 42852140 42983572 42458338 42589770 +PA134883144 166336 HGNC:20340 ENSG00000163637 prickle planar cell polarity protein 2 PRICKLE2 prickle homolog 2 (Drosophila) DKFZp686D143 Yes No Comparative Toxicogenomics Database:166336, Ensembl:ENSG00000163637, GeneCard:PRICKLE2, HGNC:HGNC:20340, ModBase:Q7Z3G6, NCBI Gene:166336, OMIM:608501, RefSeq DNA:NT_022517, RefSeq Protein:NP_942559, RefSeq RNA:NM_198859, UniProtKB:Q7Z3G6 No chr3 64079526 64253859 64093850 64445476 +PA162400060 4007 HGNC:6645 ENSG00000012211 prickle planar cell polarity protein 3 PRICKLE3 prickle homolog 3 (Drosophila) LMO6 Yes No Ensembl:ENSG00000012211, GeneCard:PRICKLE3, HGNC:HGNC:6645, HumanCyc Gene:HS00331, ModBase:O43900, NCBI Gene:4007, OMIM:300111, RefSeq DNA:NG_017135, RefSeq DNA:NT_079573, RefSeq Protein:NP_006141, RefSeq RNA:NM_006150, UniProtKB:O43900 No chrX 49031546 49042981 49174802 49186400 +PA162400083 29964 HGNC:16805 ENSG00000278224 prickle planar cell polarity protein 4 PRICKLE4 overexpressed breast tumour protein, prickle homolog 4 (Drosophila) C6orf49, DKFZp761H221, OEBT Yes No Ensembl:ENSG00000278224, GeneCard:PRICKLE4, HGNC:HGNC:16805, HumanCyc Gene:HS13137, NCBI Gene:29964, OMIM:611389, RefSeq DNA:NT_007592, RefSeq Protein:NP_037529, RefSeq RNA:NM_013397, UniProtKB:Q2TBC4 No chr6 41748500 41755110 41780762 41787372 +PA33739 5557 HGNC:9369 ENSG00000198056 DNA primase subunit 1 PRIM1 primase, DNA, polypeptide 1 (49kDa) Yes No Comparative Toxicogenomics Database:5557, Ensembl:ENSG00000198056, GenAtlas:PRIM1, GeneCard:PRIM1, HGNC:HGNC:9369, ModBase:P49642, NCBI Gene:5557, OMIM:176635, RefSeq DNA:NT_029419, RefSeq Protein:NP_000937, RefSeq RNA:NM_000946, UCSC Genome Browser:NM_000946, UniProtKB:P49642 No chr12 57125364 57146146 56731580 56752362 +PA162400108 5558 HGNC:9370 ENSG00000146143 DNA primase subunit 2 PRIM2 primase, DNA, polypeptide 2 (58kDa) PRIM2A Yes No Ensembl:ENSG00000146143, GeneCard:PRIM2, HGNC:HGNC:9370, HumanCyc Gene:HS07327, ModBase:P49643, NCBI Gene:5558, OMIM:176636, RefSeq DNA:NT_007592, RefSeq Protein:NP_000938, RefSeq Protein:XP_003403487, RefSeq RNA:NM_000947, RefSeq RNA:XM_003403439, UniProtKB:P49643 No chr6 +PA38315 145270 HGNC:18319 ENSG00000175785 proline rich membrane anchor 1 PRIMA1 membrane anchor of acetylcholinesterase PRIMA Yes No Ensembl:ENSG00000175785, GenAtlas:PRIMA1, GeneCard:PRIMA1, HGNC:HGNC:18319, ModBase:Q86XR5, NCBI Gene:145270, RefSeq DNA:NG_009069, RefSeq DNA:NT_026437, RefSeq Protein:NP_821092, RefSeq RNA:NM_178013, UCSC Genome Browser:NM_178004, UniProtKB:Q86XR5 No chr14 94184644 94254766 93718298 93789029 +PA145008751 201973 HGNC:26575 ENSG00000164306 primase and DNA directed polymerase PRIMPOL coiled-coil domain containing 111, primase and polymerase (DNA-directed) CCDC111, FLJ33167 Yes Yes Ensembl:ENSG00000164306, GeneCard:CCDC111, HGNC:HGNC:26575, HumanCyc Gene:HS15182, ModBase:Q96LW4, NCBI Gene:201973, RefSeq DNA:NT_016354, RefSeq Protein:NP_689896, RefSeq RNA:NM_152683, UniProtKB:Q96LW4 No chr4 185570767 185616112 184649613 184694959 +PA162400141 100169750 HGNC:34235 psoriasis associated non-protein coding RNA induced by stress PRINS non-protein coding RNA 74 NCRNA00074 Yes No GeneCard:PRINS, HGNC:HGNC:34235, NCBI Gene:100169750, RefSeq DNA:NT_008705, RefSeq RNA:NR_023388 No chr10 +PA33744 5562 HGNC:9376 ENSG00000132356 protein kinase AMP-activated catalytic subunit alpha 1 PRKAA1 """AMPK, alpha, 1"", ""protein kinase, AMP-activated, alpha 1 catalytic subunit""" AMPKa1 Yes Yes Comparative Toxicogenomics Database:5562, Ensembl:ENSG00000132356, GenAtlas:PRKAA1, GeneCard:PRKAA1, HGNC:HGNC:9376, HumanCyc Gene:HS05623, ModBase:Q13131, NCBI Gene:5562, OMIM:602739, RefSeq DNA:NT_006576, RefSeq Protein:NP_006242, RefSeq Protein:NP_996790, RefSeq RNA:NM_006251, RefSeq RNA:NM_206907, UCSC Genome Browser:NM_006251, UniProtKB:Q13131 No chr5 40759481 40798297 40759379 40798195 +PA33745 5563 HGNC:9377 ENSG00000162409 protein kinase AMP-activated catalytic subunit alpha 2 PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit AMPK, AMPKa2, PRKAA Yes Yes Comparative Toxicogenomics Database:5563, Ensembl:ENSG00000162409, GenAtlas:PRKAA2, GeneCard:PRKAA2, HGNC:HGNC:9377, HumanCyc Gene:HS08671, ModBase:P54646, NCBI Gene:5563, OMIM:600497, RefSeq DNA:NT_032977, RefSeq Protein:NP_006243, RefSeq RNA:NM_006252, UCSC Genome Browser:NM_006252, UniProtKB:P54646 No chr1 57110990 57181008 56645317 56715335 +PA33746 5564 HGNC:9378 ENSG00000111725 protein kinase AMP-activated non-catalytic subunit beta 1 PRKAB1 """AMPK beta 1"", ""protein kinase, AMP-activated, beta 1 non-catalytic subunit""" Yes No Comparative Toxicogenomics Database:5564, Ensembl:ENSG00000111725, GenAtlas:PRKAB1, GeneCard:PRKAB1, HGNC:HGNC:9378, HumanCyc Gene:HS03453, ModBase:Q9Y478, NCBI Gene:5564, OMIM:602740, RefSeq DNA:NT_009775, RefSeq Protein:NP_006244, RefSeq RNA:NM_006253, UCSC Genome Browser:NM_006253, UniProtKB:Q9Y478 No chr12 120105669 120119429 119667864 119681624 +PA33747 5565 HGNC:9379 ENSG00000131791 protein kinase AMP-activated non-catalytic subunit beta 2 PRKAB2 """AMPK beta 2"", ""protein kinase, AMP-activated, beta 2 non-catalytic subunit""" Yes Yes Comparative Toxicogenomics Database:5565, Ensembl:ENSG00000131791, GenAtlas:PRKAB2, GeneCard:PRKAB2, HGNC:HGNC:9379, HumanCyc Gene:HS05570, ModBase:O43741, NCBI Gene:5565, OMIM:602741, RefSeq DNA:NT_167185, RefSeq Protein:NP_005390, RefSeq RNA:NM_005399, UCSC Genome Browser:NM_005399, UniProtKB:O43741 No chr1 146626685 146644168 147155106 147172589 +PA33748 5566 HGNC:9380 ENSG00000072062 protein kinase cAMP-activated catalytic subunit alpha PRKACA """PKA C-alpha"", ""cAMP-dependent protein kinase catalytic subunit alpha"", ""protein kinase, cAMP-dependent, catalytic, alpha""" PKACa Yes No Comparative Toxicogenomics Database:5566, Ensembl:ENSG00000072062, GenAtlas:PRKACA, GeneCard:PRKACA, HGNC:HGNC:9380, HumanCyc Gene:HS01051, ModBase:P17612, NCBI Gene:5566, OMIM:601639, RefSeq DNA:NT_011295, RefSeq Protein:NP_002721, RefSeq Protein:NP_997401, RefSeq RNA:NM_002730, RefSeq RNA:NM_207518, UCSC Genome Browser:NM_002730, UniProtKB:P17612 No chr19 14202500 14228559 14091688 14117747 +PA33749 5567 HGNC:9381 ENSG00000142875 protein kinase cAMP-activated catalytic subunit beta PRKACB """PKA C-beta"", ""cAMP-dependent protein kinase catalytic subunit beta"", ""protein kinase, cAMP-dependent, catalytic, beta""" PKACb Yes No Comparative Toxicogenomics Database:5567, Ensembl:ENSG00000142875, GenAtlas:PRKACB, GeneCard:PRKACB, HGNC:HGNC:9381, HumanCyc Gene:HS06968, ModBase:Q5BNF3, NCBI Gene:5567, OMIM:176892, RefSeq DNA:NT_032977, RefSeq Protein:NP_001229786, RefSeq Protein:NP_001229787, RefSeq Protein:NP_001229788, RefSeq Protein:NP_001229789, RefSeq Protein:NP_001229790, RefSeq Protein:NP_001229791, RefSeq Protein:NP_002722, RefSeq Protein:NP_891993, RefSeq Protein:NP_997461, RefSeq RNA:NM_001242857, RefSeq RNA:NM_001242858, RefSeq RNA:NM_001242859, RefSeq RNA:NM_001242860, RefSeq RNA:NM_001242861, RefSeq RNA:NM_001242862, RefSeq RNA:NM_002731, RefSeq RNA:NM_182948, RefSeq RNA:NM_207578, UCSC Genome Browser:NM_002731, UniProtKB:B2RB89, UniProtKB:P22694 No chr1 84543745 84704181 84077975 84238498 +PA33750 5568 HGNC:9382 ENSG00000165059 protein kinase cAMP-activated catalytic subunit gamma PRKACG protein kinase, cAMP-dependent, catalytic, gamma PKACg Yes No Ensembl:ENSG00000165059, GenAtlas:PRKACG, GeneCard:PRKACG, HGNC:HGNC:9382, HumanCyc Gene:HS09176, ModBase:P22612, NCBI Gene:5568, OMIM:176893, RefSeq DNA:NT_008470, RefSeq Protein:NP_002723, RefSeq RNA:NM_002732, UCSC Genome Browser:NM_002732, UniProtKB:P22612 No chr9 71627426 71635600 69012529 69014123 +PA33751 5571 HGNC:9385 ENSG00000181929 protein kinase AMP-activated non-catalytic subunit gamma 1 PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit Yes No Comparative Toxicogenomics Database:5571, Ensembl:ENSG00000181929, GenAtlas:PRKAG1, GeneCard:PRKAG1, HGNC:HGNC:9385, HumanCyc Gene:HS11683, ModBase:P54619, NCBI Gene:5571, OMIM:602742, RefSeq DNA:NT_029419, RefSeq Protein:NP_001193638, RefSeq Protein:NP_001193639, RefSeq Protein:NP_002724, RefSeq Protein:NP_997626, RefSeq RNA:NM_001206709, RefSeq RNA:NM_001206710, RefSeq RNA:NM_002733, RefSeq RNA:NM_212461, UCSC Genome Browser:NM_002733, UniProtKB:P54619 No chr12 49396055 49413012 49002272 49018975 +PA33752 51422 HGNC:9386 ENSG00000106617 protein kinase AMP-activated non-catalytic subunit gamma 2 PRKAG2 """AMPK gamma2"", ""protein kinase, AMP-activated, gamma 2 non-catalytic subunit""" AAKG, AAKG2, CMH6, H91620p, WPWS Yes Yes Comparative Toxicogenomics Database:51422, Ensembl:ENSG00000106617, GenAtlas:PRKAG2, GeneCard:PRKAG2, HGNC:HGNC:9386, HumanCyc Gene:HS02931, ModBase:Q9UGJ0, NCBI Gene:51422, OMIM:194200, OMIM:261740, OMIM:600858, OMIM:602743, RefSeq DNA:NG_007486, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001035723, RefSeq Protein:NP_057287, RefSeq Protein:NP_077747, RefSeq RNA:NM_001040633, RefSeq RNA:NM_016203, RefSeq RNA:NM_024429, UCSC Genome Browser:NM_016203, UniProtKB:Q9UGJ0 No chr7 151253200 151574316 151556114 151877231 +PA33753 53632 HGNC:9387 ENSG00000115592 protein kinase AMP-activated non-catalytic subunit gamma 3 PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit Yes No Ensembl:ENSG00000115592, GenAtlas:PRKAG3, GeneCard:PRKAG3, HGNC:HGNC:9387, HumanCyc Gene:HS03912, ModBase:Q9UGI9, NCBI Gene:53632, OMIM:604976, RefSeq DNA:NG_016458, RefSeq DNA:NT_005403, RefSeq Protein:NP_059127, RefSeq RNA:NM_017431, UCSC Genome Browser:NM_017431, UniProtKB:Q9UGI9 No chr2 219687083 219696526 218821853 218831803 +PA33754 5573 HGNC:9388 ENSG00000108946 protein kinase cAMP-dependent type I regulatory subunit alpha PRKAR1A """Carney complex type 1"", ""protein kinase, cAMP-dependent, regulatory, type I, alpha""" CNC1, PKR1, PRKAR1, Prkar1alpha, TSE1 Yes No Comparative Toxicogenomics Database:5573, Ensembl:ENSG00000108946, GenAtlas:PRKAR1A, GeneCard:PRKAR1A, HGNC:HGNC:9388, HumanCyc Gene:HS03179, ModBase:P10644, NCBI Gene:5573, OMIM:160980, OMIM:188550, OMIM:188830, OMIM:255960, OMIM:610489, RefSeq DNA:NG_007093, RefSeq DNA:NT_010783, RefSeq Protein:NP_002725, RefSeq Protein:NP_997636, RefSeq Protein:NP_997637, RefSeq RNA:NM_002734, RefSeq RNA:NM_212471, RefSeq RNA:NM_212472, UCSC Genome Browser:NM_002734, UniProtKB:B2R5T5, UniProtKB:P10644 No chr17 66507921 66547457 68413623 68551316 +PA33756 5575 HGNC:9390 ENSG00000188191 protein kinase cAMP-dependent type I regulatory subunit beta PRKAR1B protein kinase, cAMP-dependent, regulatory, type I, beta Yes No Comparative Toxicogenomics Database:5575, Ensembl:ENSG00000188191, GenAtlas:PRKAR1B, GeneCard:PRKAR1B, HGNC:HGNC:9390, ModBase:P31321, NCBI Gene:5575, OMIM:176911, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001158230, RefSeq Protein:NP_001158231, RefSeq Protein:NP_001158232, RefSeq Protein:NP_001158233, RefSeq Protein:NP_001158234, RefSeq Protein:NP_002726, RefSeq RNA:NM_001164758, RefSeq RNA:NM_001164759, RefSeq RNA:NM_001164760, RefSeq RNA:NM_001164761, RefSeq RNA:NM_001164762, RefSeq RNA:NM_002735, UniProtKB:P31321 No chr7 588834 767313 549185 727676 +PA33757 5576 HGNC:9391 ENSG00000114302 protein kinase cAMP-dependent type II regulatory subunit alpha PRKAR2A protein kinase, cAMP-dependent, regulatory, type II, alpha PRKAR2 Yes No Comparative Toxicogenomics Database:5576, Ensembl:ENSG00000114302, GenAtlas:PRKAR2A, GeneCard:PRKAR2A, HGNC:HGNC:9391, HumanCyc Gene:HS03753, ModBase:P13861, NCBI Gene:5576, OMIM:176910, RefSeq DNA:NT_022517, RefSeq Protein:NP_004148, RefSeq RNA:NM_004157, UCSC Genome Browser:NM_004157, UniProtKB:P13861, UniProtKB:Q9BUB1 No chr3 48784017 48885270 48744601 48847850 +PA33758 5577 HGNC:9392 ENSG00000005249 protein kinase cAMP-dependent type II regulatory subunit beta PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta PRKAR2 Yes No Comparative Toxicogenomics Database:5577, Ensembl:ENSG00000005249, GenAtlas:PRKAR2B, GeneCard:PRKAR2B, HGNC:HGNC:9392, HumanCyc Gene:HS00136, ModBase:P31323, NCBI Gene:5577, OMIM:176912, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_002727, RefSeq RNA:NM_002736, UCSC Genome Browser:NM_002736, UniProtKB:B3KY43, UniProtKB:P31323 No chr7 106685178 106802256 107044728 107161811 +PA33759 5578 HGNC:9393 ENSG00000154229 protein kinase C alpha PRKCA protein kinase C, alpha PKCA, PKCa, PKCα, PKCα Yes Yes Comparative Toxicogenomics Database:5578, Ensembl:ENSG00000154229, GenAtlas:PRKCA, GeneCard:PRKCA, HGNC:HGNC:9393, HumanCyc Gene:HS07962, ModBase:P17252, NCBI Gene:5578, OMIM:176960, RefSeq DNA:NG_012206, RefSeq DNA:NT_010783, RefSeq Protein:NP_002728, RefSeq RNA:NM_002737, UCSC Genome Browser:NM_002737, UniProtKB:B5BU22, UniProtKB:P17252 No chr17 64298760 64806862 66302640 66810744 +PA33761 5579 HGNC:9395 ENSG00000166501 protein kinase C beta PRKCB protein kinase C, beta PKCB, PKCβ, PKCß, PKCβ, PRKCB1, PRKCB2 Yes Yes Ensembl:ENSG00000166501, GenAtlas:PRKCB1, GeneCard:PRKCB, GeneCard:PRKCB1, HGNC:HGNC:9395, HumanCyc Gene:HS09408, ModBase:Q9UJ30, NCBI Gene:5579, OMIM:176970, RefSeq DNA:NT_010393, RefSeq Protein:NP_002729, RefSeq Protein:NP_997700, RefSeq RNA:NM_002738, RefSeq RNA:NM_212535, UCSC Genome Browser:NM_002738, UniProtKB:P05771 No chr16 23847300 24231932 23835979 24220611 +PA33763 5580 HGNC:9399 ENSG00000163932 protein kinase C delta PRKCD protein kinase C, delta Yes No Comparative Toxicogenomics Database:5580, Ensembl:ENSG00000163932, GenAtlas:PRKCD, GeneCard:PRKCD, HGNC:HGNC:9399, HumanCyc Gene:HS08969, ModBase:Q05655, NCBI Gene:5580, OMIM:176977, RefSeq DNA:NT_022517, RefSeq Protein:NP_006245, RefSeq Protein:NP_997704, RefSeq RNA:NM_006254, RefSeq RNA:NM_212539, UCSC Genome Browser:NM_006254, UniProtKB:Q05655 No chr3 53195223 53226733 53161207 53192717 +PA33765 5581 HGNC:9401 ENSG00000171132 protein kinase C epsilon PRKCE protein kinase C, epsilon Yes Yes Comparative Toxicogenomics Database:5581, Ensembl:ENSG00000171132, GenAtlas:PRKCE, GeneCard:PRKCE, HGNC:HGNC:9401, HumanCyc Gene:HS10253, ModBase:Q02156, NCBI Gene:5581, OMIM:176975, RefSeq DNA:NT_022184, RefSeq Protein:NP_005391, RefSeq RNA:NM_005400, UCSC Genome Browser:NM_005400, UniProtKB:Q02156 No chr2 45878454 46415129 45651315 46187990 +PA33766 5582 HGNC:9402 ENSG00000126583 protein kinase C gamma PRKCG """PKC-gamma"", ""protein kinase C, gamma""" MGC57564, PKCC, PKCG, PKC¿, PKCγ, PKCγ, SCA14 Yes No Comparative Toxicogenomics Database:5582, Ensembl:ENSG00000126583, GenAtlas:PRKCG, GeneCard:PRKCG, HGNC:HGNC:9402, HumanCyc Gene:HS05035, ModBase:P05129, NCBI Gene:5582, OMIM:176980, OMIM:605361, RefSeq DNA:NG_009114, RefSeq DNA:NT_011109, RefSeq Protein:NP_002730, RefSeq RNA:NM_002739, UCSC Genome Browser:NM_002739, UniProtKB:P05129 No chr19 54385467 54410906 53882184 53907647 +PA33767 5583 HGNC:9403 ENSG00000027075 protein kinase C eta PRKCH protein kinase C, eta PKC-L, PKCL, PRKCL Yes No Comparative Toxicogenomics Database:5583, Ensembl:ENSG00000027075, GenAtlas:PRKCH, GeneCard:PRKCH, HGNC:HGNC:9403, HumanCyc Gene:HS00456, ModBase:P24723, NCBI Gene:5583, OMIM:601367, OMIM:605437, RefSeq DNA:NG_011514, RefSeq DNA:NT_026437, RefSeq Protein:NP_006246, RefSeq RNA:NM_006255, UCSC Genome Browser:NM_006255, UniProtKB:P24723 No chr14 61788515 62017698 61280953 61550980 +PA33768 5584 HGNC:9404 ENSG00000163558 protein kinase C iota PRKCI protein kinase C, iota DXS1179E, PKCI Yes No Comparative Toxicogenomics Database:5584, Ensembl:ENSG00000163558, GenAtlas:PRKCI, GeneCard:PRKCI, HGNC:HGNC:9404, HumanCyc Gene:HS08880, ModBase:P41743, NCBI Gene:5584, OMIM:600539, RefSeq DNA:NT_005612, RefSeq Protein:NP_002731, RefSeq RNA:NM_002740, UCSC Genome Browser:NM_002740, UniProtKB:P41743 No chr3 169940220 170023770 170222432 170305982 +PA33773 5588 HGNC:9410 ENSG00000065675 protein kinase C theta PRKCQ protein kinase C, theta Yes Yes Comparative Toxicogenomics Database:5588, Ensembl:ENSG00000065675, GenAtlas:PRKCQ, GeneCard:PRKCQ, HGNC:HGNC:9410, HumanCyc Gene:HS00853, ModBase:Q04759, NCBI Gene:5588, OMIM:600448, RefSeq DNA:NT_008705, RefSeq Protein:NP_001229342, RefSeq Protein:NP_006248, RefSeq RNA:NM_001242413, RefSeq RNA:NM_006257, UCSC Genome Browser:NM_006257, UniProtKB:Q04759 No chr10 6435558 6622254 6393038 6580646 +PA33774 5589 HGNC:9411 ENSG00000130175 PRKCSH beta subunit of glucosidase II PRKCSH advanced glycation end-product receptor 2, glucosidase 2 subunit beta, glucosidase II beta subunit, hepatocystin, protein kinase C substrate 80K-H 80K-H, AGE-R2, G19P1, GIIB, GIIbeta, GluIIbeta, PCLD, PKCSH, PLD1, VASAP-60 Yes No Comparative Toxicogenomics Database:5589, Ensembl:ENSG00000130175, GenAtlas:PCLD, GenAtlas:PRKCSH, GeneCard:PCLD, GeneCard:PRKCSH, HGNC:HGNC:9411, HumanCyc Gene:HS05346, ModBase:P14314, NCBI Gene:5589, OMIM:174050, OMIM:177060, RefSeq DNA:NG_009300, RefSeq DNA:NT_011295, RefSeq Protein:NP_001001329, RefSeq Protein:NP_002734, RefSeq RNA:NM_001001329, RefSeq RNA:NM_002743, UCSC Genome Browser:NM_002743, UniProtKB:A8K318, UniProtKB:P14314 No chr19 11546111 11561783 11435257 11450968 +PA33775 5590 HGNC:9412 ENSG00000067606 protein kinase C zeta PRKCZ protein kinase C, zeta PKC2 Yes No Comparative Toxicogenomics Database:5590, Ensembl:ENSG00000067606, GenAtlas:PRKCZ, GeneCard:PRKCZ, HGNC:HGNC:9412, HumanCyc Gene:HS00913, ModBase:Q05513, NCBI Gene:5590, OMIM:176982, RefSeq DNA:NT_004350, RefSeq Protein:NP_001028753, RefSeq Protein:NP_001028754, RefSeq Protein:NP_001229803, RefSeq Protein:NP_002735, RefSeq RNA:NM_001033581, RefSeq RNA:NM_001033582, RefSeq RNA:NM_001242874, RefSeq RNA:NM_002744, UCSC Genome Browser:NM_002744, UniProtKB:A8MU64, UniProtKB:Q05513 No chr1 1981909 2116834 2050470 2185395 +PA33771 5587 HGNC:9407 ENSG00000184304 protein kinase D1 PRKD1 PKC-mu, PKCM, PKD, PRKCM Yes Yes Comparative Toxicogenomics Database:5587, Ensembl:ENSG00000184304, GenAtlas:PRKD1, GeneCard:PRKD1, HGNC:HGNC:9407, HumanCyc Gene:HS00043, ModBase:Q15139, NCBI Gene:5587, OMIM:605435, RefSeq DNA:NT_026437, RefSeq Protein:NP_002733, RefSeq RNA:NM_002742, UCSC Genome Browser:NM_002742, UniProtKB:Q15139 No chr14 30045685 30396899 29576479 29927693 +PA134903505 25865 HGNC:17293 ENSG00000105287 protein kinase D2 PRKD2 DKFZP586E0820, HSPC187, PKD2 Yes No Comparative Toxicogenomics Database:25865, Ensembl:ENSG00000105287, GeneCard:PRKD2, HGNC:HGNC:17293, HumanCyc Gene:HS02707, ModBase:Q9BZL6, NCBI Gene:25865, OMIM:607074, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073349, RefSeq Protein:NP_001073350, RefSeq Protein:NP_001073351, RefSeq Protein:NP_057541, RefSeq RNA:NM_001079880, RefSeq RNA:NM_001079881, RefSeq RNA:NM_001079882, RefSeq RNA:NM_016457, UniProtKB:Q8NCK8, UniProtKB:Q9BZL6 No chr19 47177573 47220384 46674316 46717127 +PA33772 23683 HGNC:9408 ENSG00000115825 protein kinase D3 PRKD3 EPK2, PRKCN Yes No Comparative Toxicogenomics Database:23683, Ensembl:ENSG00000115825, GenAtlas:PRKD3, GeneCard:PRKD3, HGNC:HGNC:9408, HumanCyc Gene:HS03940, ModBase:O94806, NCBI Gene:23683, OMIM:607077, RefSeq DNA:NT_022184, RefSeq Protein:NP_005804, RefSeq RNA:NM_005813, UCSC Genome Browser:NM_005813, UniProtKB:O94806 No chr2 37477645 37551915 37250502 37324803 +PA33776 5591 HGNC:9413 ENSG00000253729 protein kinase, DNA-activated, catalytic subunit PRKDC """DNA-dependent protein kinase catalytic subunit"", ""protein kinase, DNA-activated, catalytic polypeptide""" DNA-PKC, DNA-PKcs, DNAPK, DNAPKc, DNPK1, HYRC, HYRC1, XRCC7, p350, p460 Yes No Comparative Toxicogenomics Database:5591, Ensembl:ENSG00000253729, GenAtlas:PRKDC, GeneCard:PRKDC, HGNC:HGNC:9413, HumanCyc Gene:HS04461, ModBase:Q9UME3, NCBI Gene:5591, OMIM:600899, RefSeq DNA:NG_023435, RefSeq DNA:NT_008183, RefSeq Protein:NP_001075109, RefSeq Protein:NP_008835, RefSeq RNA:NM_001081640, RefSeq RNA:NM_006904, UCSC Genome Browser:NM_006904, UniProtKB:P78527 No chr8 48685669 48872743 47773108 47960183 +PA33777 5592 HGNC:9414 ENSG00000185532 protein kinase cGMP-dependent 1 PRKG1 protein kinase, cGMP-dependent, type I PGK, PKG, PKG1, PRKG1B, PRKGR1B Yes Yes Comparative Toxicogenomics Database:5592, Ensembl:ENSG00000185532, GenAtlas:PRKG1, GeneCard:PRKG1, HGNC:HGNC:9414, HumanCyc Gene:HS00044, ModBase:P14619, ModBase:Q13976, NCBI Gene:5592, OMIM:176894, RefSeq DNA:NT_030059, RefSeq Protein:NP_001091982, RefSeq Protein:NP_006249, RefSeq RNA:NM_001098512, RefSeq RNA:NM_006258, UCSC Genome Browser:NM_006258, UniProtKB:Q13976 No chr10 52750911 54058110 50991151 52298350 +PA33778 5593 HGNC:9416 ENSG00000138669 protein kinase cGMP-dependent 2 PRKG2 protein kinase, cGMP-dependent, type II PKG2, PRKGR2, cGKII Yes No Ensembl:ENSG00000138669, GenAtlas:PRKG2, GeneCard:PRKG2, HGNC:HGNC:9416, HumanCyc Gene:HS06530, ModBase:Q13237, NCBI Gene:5593, OMIM:601591, RefSeq DNA:NT_016354, RefSeq Protein:NP_006250, RefSeq RNA:NM_006259, UCSC Genome Browser:NM_006259, UniProtKB:Q13237 No chr4 82008643 82136271 81086874 81217837 +PA32942 5071 HGNC:8607 ENSG00000185345 parkin RBR E3 ubiquitin protein ligase PRKN """E3 ubiquitin ligase"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)""" AR-JP, PARK2, PDJ, parkin Yes No Comparative Toxicogenomics Database:5071, Ensembl:ENSG00000185345, GenAtlas:PARK2, GeneCard:PARK2, HGNC:HGNC:8607, ModBase:O60260, NCBI Gene:5071, OMIM:211980, OMIM:600116, OMIM:602544, OMIM:604370, OMIM:607572, RefSeq DNA:NG_008289, RefSeq DNA:NT_025741, RefSeq Protein:NP_004553, RefSeq Protein:NP_054642, RefSeq Protein:NP_054643, RefSeq RNA:NM_004562, RefSeq RNA:NM_013987, RefSeq RNA:NM_013988, UCSC Genome Browser:NM_004562, UniProtKB:O60260, UniProtKB:Q5VVX3, UniProtKB:Q5VVX4 No chr6 161768590 163148834 161347417 162727802 +PA33780 8575 HGNC:9438 ENSG00000180228 protein activator of interferon induced protein kinase EIF2AK2 PRKRA """PKR-associated protein X"", ""protein activator of the interferon-induced protein kinase"", ""protein kinase, interferon-inducible double stranded RNA dependent activator""" DYT16, HSD14, PACT, RAX Yes No Comparative Toxicogenomics Database:8575, Ensembl:ENSG00000180228, GenAtlas:PRKRA, GeneCard:PRKRA, HGNC:HGNC:9438, HumanCyc Gene:HS11473, ModBase:O75569, NCBI Gene:8575, OMIM:603424, OMIM:612067, RefSeq DNA:NG_009053, RefSeq DNA:NT_005403, RefSeq DNA:NT_167246, RefSeq DNA:NT_167249, RefSeq Protein:NP_001132989, RefSeq Protein:NP_001132990, RefSeq Protein:NP_003681, RefSeq RNA:NM_001139517, RefSeq RNA:NM_001139518, RefSeq RNA:NM_003690, UCSC Genome Browser:NM_003690, UniProtKB:O75569 No chr2 179296141 179315958 178431414 178451240 +PA134952162 79706 HGNC:21894 ENSG00000128563 PRKR interacting protein 1 PRKRIP1 KRAB box domain containing 3, PRKR interacting protein 1 (IL11 inducible), likely ortholog of mouse C114 dsRNA-binding protein C114, FLJ13902, KRBOX3 Yes No Comparative Toxicogenomics Database:79706, Ensembl:ENSG00000128563, GeneCard:PRKRIP1, HGNC:HGNC:21894, HumanCyc Gene:HS13264, ModBase:Q9H875, NCBI Gene:79706, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_078929, RefSeq RNA:NM_024653, UniProtKB:Q9H875 No chr7 102036804 102067129 102396357 102426682 +PA33786 5613 HGNC:9441 ENSG00000183943 protein kinase cAMP-dependent X-linked catalytic subunit PRKX """protein kinase X-linked"", ""protein kinase, X-linked""" PKX1 Yes No Comparative Toxicogenomics Database:5613, Ensembl:ENSG00000183943, GenAtlas:PRKX, GeneCard:PRKX, HGNC:HGNC:9441, ModBase:P51817, NCBI Gene:5613, OMIM:300083, RefSeq DNA:NG_016716, RefSeq DNA:NT_167197, RefSeq Protein:NP_005035, RefSeq RNA:NM_005044, UCSC Genome Browser:NM_005044, UniProtKB:P51817 No chrX 3522384 3631675 3604343 3713634 +PA33787 441733 HGNC:9442 ENSG00000259205 protein kinase, X-linked, pseudogene 1 PRKXP1 Yes No Ensembl:ENSG00000259205, GenAtlas:PRKXP1, GeneCard:PRKXP1, HGNC:HGNC:9442, NCBI Gene:441733, RefSeq DNA:NG_005679, RefSeq DNA:NT_010274 No chr15 101087957 101099488 100547752 100559283 +PA33788 5615 HGNC:9443 protein kinase, X-linked, pseudogene 2 PRKXP2 Yes No GenAtlas:PRKXP2, GeneCard:PRKXP2, HGNC:HGNC:9443, NCBI Gene:5615 No chrX 69098181 69098580 69878345 69878744 +PA33789 5616 HGNC:9444 ENSG00000099725 protein kinase, Y-linked, pseudogene PRKY PRKXP3, PRKYP Yes No Ensembl:ENSG00000099725, GenAtlas:PRKY, GeneCard:PRKY, HGNC:HGNC:9444, HumanCyc Gene:HS01904, ModBase:O43930, NCBI Gene:5616, OMIM:400008, RefSeq DNA:NT_011896, RefSeq Protein:NP_002751, RefSeq RNA:NM_002760, RefSeq RNA:NR_028062, UCSC Genome Browser:NM_002760 No chrY 7142013 7249588 7273972 7381547 +PA33790 5617 HGNC:9445 ENSG00000172179 prolactin PRL Yes No Comparative Toxicogenomics Database:5617, Ensembl:ENSG00000172179, GenAtlas:PRL, GeneCard:PRL, HGNC:HGNC:9445, HumanCyc Gene:HS10464, ModBase:P01236, NCBI Gene:5617, OMIM:176760, RefSeq DNA:NT_007592, RefSeq Protein:NP_000939, RefSeq Protein:NP_001157030, RefSeq RNA:NM_000948, RefSeq RNA:NM_001163558, UCSC Genome Browser:NM_000948, UniProtKB:P01236, UniProtKB:Q5THQ0 No chr6 22287473 22303082 22287244 22302897 +PA134927756 51052 HGNC:17945 ENSG00000071677 prolactin releasing hormone PRLH PRH Yes No Comparative Toxicogenomics Database:51052, Ensembl:ENSG00000071677, GeneCard:PRLH, HGNC:HGNC:17945, HumanCyc Gene:HS01039, NCBI Gene:51052, OMIM:602663, RefSeq DNA:NT_005120, RefSeq Protein:NP_056977, RefSeq RNA:NM_015893, UniProtKB:P81277, UniProtKB:Q53QV7 No chr2 238475217 238475818 237566574 237567175 +PA28847 2834 HGNC:4464 ENSG00000119973 prolactin releasing hormone receptor PRLHR GPR10, PrRPR Yes No Comparative Toxicogenomics Database:2834, Ensembl:ENSG00000119973, GenAtlas:PRLHR, GeneCard:PRLHR, HGNC:HGNC:4464, HumanCyc Gene:HS04358, IUPHAR Receptor:337, ModBase:P49683, NCBI Gene:2834, OMIM:600895, RefSeq DNA:NT_030059, RefSeq Protein:NP_004239, RefSeq RNA:NM_004248, UCSC Genome Browser:NM_004248, UniProtKB:A5JUU5, UniProtKB:P49683 No chr10 120352916 120355160 118593404 118595648 +PA33791 5618 HGNC:9446 ENSG00000113494 prolactin receptor PRLR Yes No Comparative Toxicogenomics Database:5618, Ensembl:ENSG00000113494, GenAtlas:PRLR, GeneCard:PRLR, HGNC:HGNC:9446, HumanCyc Gene:HS03686, ModBase:P16471, NCBI Gene:5618, OMIM:176761, RefSeq DNA:NT_006576, RefSeq Protein:NP_000940, RefSeq Protein:NP_001191243, RefSeq Protein:NP_001191244, RefSeq Protein:NP_001191245, RefSeq Protein:NP_001191246, RefSeq Protein:NP_001191247, RefSeq RNA:NM_000949, RefSeq RNA:NM_001204314, RefSeq RNA:NM_001204315, RefSeq RNA:NM_001204316, RefSeq RNA:NM_001204317, RefSeq RNA:NM_001204318, RefSeq RNA:NR_037910, UCSC Genome Browser:NM_000949, UniProtKB:P16471 No chr5 35048861 35230823 35048295 35230589 +PA33792 5619 HGNC:9447 ENSG00000175646 protamine 1 PRM1 cancer/testis antigen family 94, member 1 CT94.1 Yes No Comparative Toxicogenomics Database:5619, Ensembl:ENSG00000175646, GenAtlas:PRM1, GeneCard:PRM1, HGNC:HGNC:9447, HumanCyc Gene:HS10965, NCBI Gene:5619, OMIM:182880, RefSeq DNA:NT_010393, RefSeq Protein:NP_002752, RefSeq RNA:NM_002761, UCSC Genome Browser:NM_002761, UniProtKB:P04553, UniProtKB:Q3MN80 No chr16 11374693 11375192 11280836 11281335 +PA33793 5620 HGNC:9448 ENSG00000122304 protamine 2 PRM2 cancer/testis antigen family 94, member 2 CT94.2 Yes No Comparative Toxicogenomics Database:5620, Ensembl:ENSG00000122304, GenAtlas:PRM2, GeneCard:PRM2, HGNC:HGNC:9448, HumanCyc Gene:HS04561, ModBase:P04554, NCBI Gene:5620, OMIM:182890, RefSeq DNA:NT_010393, RefSeq Protein:NP_002753, RefSeq RNA:NM_002762, UCSC Genome Browser:NM_002762, UniProtKB:P04554, UniProtKB:Q1LZN1 No chr16 11369493 11370337 11275636 11276480 +PA33794 58531 HGNC:13732 ENSG00000178257 protamine 3 PRM3 Yes No Comparative Toxicogenomics Database:58531, Ensembl:ENSG00000178257, GenAtlas:PRM3, GeneCard:PRM3, HGNC:HGNC:13732, HumanCyc Gene:HS11269, ModBase:Q9NNZ6, NCBI Gene:58531, RefSeq DNA:NT_010393, RefSeq Protein:NP_067070, RefSeq RNA:NM_021247, UCSC Genome Browser:NM_021247, UniProtKB:Q9NNZ6 No chr16 11367141 11367452 11273199 11273595 +PA29461 3276 HGNC:5187 ENSG00000126457 protein arginine methyltransferase 1 PRMT1 highly conserved protein 1 ANM1, HCP1, HRMT1L2 Yes No Comparative Toxicogenomics Database:3276, Ensembl:ENSG00000126457, GenAtlas:PRMT1, GeneCard:PRMT1, HGNC:HGNC:5187, HumanCyc Gene:HS05019, ModBase:Q9NZ06, NCBI Gene:3276, OMIM:602950, RefSeq DNA:NT_011109, RefSeq Protein:NP_001193971, RefSeq Protein:NP_001527, RefSeq Protein:NP_938074, RefSeq Protein:NP_938075, RefSeq RNA:NM_001207042, RefSeq RNA:NM_001536, RefSeq RNA:NM_198318, RefSeq RNA:NM_198319, RefSeq RNA:NR_033397, UCSC Genome Browser:NM_001536, UniProtKB:Q8WUW5, UniProtKB:Q99873 No chr19 50180409 50191707 49676166 49688450 +PA29460 3275 HGNC:5186 ENSG00000160310 protein arginine methyltransferase 2 PRMT2 HRMT1L1, MGC111373 Yes No Comparative Toxicogenomics Database:3275, Ensembl:ENSG00000160310, GenAtlas:PRMT2, GeneCard:PRMT2, HGNC:HGNC:5186, HumanCyc Gene:HS08486, ModBase:P55345, NCBI Gene:3275, OMIM:601961, RefSeq DNA:NT_011515, RefSeq Protein:NP_001229793, RefSeq Protein:NP_001229794, RefSeq Protein:NP_001229795, RefSeq Protein:NP_001526, RefSeq Protein:NP_996845, RefSeq RNA:NM_001242864, RefSeq RNA:NM_001242865, RefSeq RNA:NM_001242866, RefSeq RNA:NM_001535, RefSeq RNA:NM_206962, UCSC Genome Browser:NM_001535, UniProtKB:P55345 No chr21 48055507 48085155 46635153 46665685 +PA29462 10196 HGNC:30163 ENSG00000185238 protein arginine methyltransferase 3 PRMT3 HRMT1L3 Yes No Comparative Toxicogenomics Database:10196, Ensembl:ENSG00000185238, GenAtlas:PRMT3, GeneCard:PRMT3, HGNC:HGNC:30163, ModBase:O60678, NCBI Gene:10196, OMIM:603190, RefSeq DNA:NT_009237, RefSeq Protein:NP_001138638, RefSeq Protein:NP_001138639, RefSeq Protein:NP_005779, RefSeq RNA:NM_001145166, RefSeq RNA:NM_001145167, RefSeq RNA:NM_005788, UCSC Genome Browser:NM_019854, UniProtKB:O60678, UniProtKB:Q8WUV3 No chr11 20409076 20530879 20387530 20510861 +PA35794 10419 HGNC:10894 ENSG00000100462 protein arginine methyltransferase 5 PRMT5 HRMT1L5, SKB1, SKB1Hs Yes No Comparative Toxicogenomics Database:10419, Ensembl:ENSG00000100462, GenAtlas:PRMT5, GeneCard:PRMT5, HGNC:HGNC:10894, HumanCyc Gene:HS02092, ModBase:O14744, NCBI Gene:10419, OMIM:604045, RefSeq DNA:NT_026437, RefSeq Protein:NP_001034708, RefSeq Protein:NP_006100, RefSeq RNA:NM_001039619, RefSeq RNA:NM_006109, UCSC Genome Browser:NM_006109, UniProtKB:A8MZ91, UniProtKB:O14744 No chr14 23389733 23398789 22920511 22929585 +PA134992775 55170 HGNC:18241 ENSG00000198890 protein arginine methyltransferase 6 PRMT6 FLJ10559, HRMT1L6 Yes No Comparative Toxicogenomics Database:55170, Ensembl:ENSG00000198890, GeneCard:PRMT6, HGNC:HGNC:18241, HumanCyc Gene:HS11391, ModBase:Q96LA8, NCBI Gene:55170, OMIM:608274, RefSeq DNA:NT_032977, RefSeq Protein:NP_060607, RefSeq RNA:NM_018137, UniProtKB:Q96LA8 No chr1 107599267 107601916 107056645 107059294 +PA143485581 54496 HGNC:25557 ENSG00000132600 protein arginine methyltransferase 7 PRMT7 FLJ10640, KIAA1933 Yes No Comparative Toxicogenomics Database:54496, Ensembl:ENSG00000132600, GeneCard:PRMT7, HGNC:HGNC:25557, HumanCyc Gene:HS05660, ModBase:Q9NVM4, NCBI Gene:54496, OMIM:610087, RefSeq DNA:NT_010498, RefSeq Protein:NP_001171753, RefSeq Protein:NP_061896, RefSeq RNA:NM_001184824, RefSeq RNA:NM_019023, UniProtKB:Q9NVM4 No chr16 68344877 68391169 68310974 68358832 +PA134903406 56341 HGNC:5188 ENSG00000111218 protein arginine methyltransferase 8 PRMT8 HRMT1L3, HRMT1L4 Yes No Ensembl:ENSG00000111218, GeneCard:PRMT8, HGNC:HGNC:5188, HumanCyc Gene:HS03381, ModBase:Q9NR22, NCBI Gene:56341, OMIM:610086, RefSeq DNA:NT_009759, RefSeq Protein:NP_062828, RefSeq RNA:NM_019854, UniProtKB:Q59GT2, UniProtKB:Q9NR22 No chr12 3490515 3703139 3381349 3593973 +PA165664476 90826 HGNC:25099 ENSG00000164169 protein arginine methyltransferase 9 PRMT9 protein arginine methyltransferase 10 (putative) FLJ46629, PRMT10 Yes No Ensembl:ENSG00000164169, GeneCard:PRMT10, HGNC:HGNC:25099, NCBI Gene:90826, RefSeq DNA:NT_016354, RefSeq Protein:NP_612373, RefSeq RNA:NM_138364, UniProtKB:Q6P2P2 No chr4 148558936 148605381 147635626 147684230 +PA33795 23627 HGNC:15748 ENSG00000171864 prion like protein doppel PRND downstream prion protein-like gene, prion protein 2 (dublet), prion-like protein doppel DOPPEL, DPL, PrPLP, dJ1068H6.4 Yes No Ensembl:ENSG00000171864, GenAtlas:PRND, GeneCard:PRND, HGNC:HGNC:15748, HumanCyc Gene:HS10406, ModBase:Q9UKY0, NCBI Gene:23627, OMIM:604263, RefSeq DNA:NT_011387, RefSeq Protein:NP_036541, RefSeq RNA:NM_012409, UCSC Genome Browser:NM_012409, UniProtKB:Q9UKY0 No chr20 4702556 4709106 4721854 4728462 +PA33796 5621 HGNC:9449 ENSG00000171867 prion protein (Kanno blood group) PRNP Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia, p27-30, prion protein AltPrP, CD230, CJD, GSS, PRIP, PRP Yes No Comparative Toxicogenomics Database:5621, Ensembl:ENSG00000171867, GenAtlas:PRNP, GeneCard:PRNP, HGNC:HGNC:9449, HumanCyc Gene:HS10408, ModBase:Q9UP19, NCBI Gene:5621, OMIM:123400, OMIM:137440, OMIM:176640, OMIM:600072, OMIM:603218, OMIM:606688, RefSeq DNA:NG_009087, RefSeq DNA:NT_011387, RefSeq Protein:NP_000302, RefSeq Protein:NP_001073590, RefSeq Protein:NP_001073591, RefSeq Protein:NP_001073592, RefSeq Protein:NP_898902, RefSeq RNA:NM_000311, RefSeq RNA:NM_001080121, RefSeq RNA:NM_001080122, RefSeq RNA:NM_001080123, RefSeq RNA:NM_183079, UCSC Genome Browser:NM_000311, UniProtKB:P04156, UniProtKB:Q53YK7 No chr20 4666797 4682235 4686151 4701588 +PA134909108 149830 HGNC:18046 ENSG00000180259 prion protein (testis specific) PRNT M8 protein M8 Yes No Ensembl:ENSG00000180259, GeneCard:PRNT, HGNC:HGNC:18046, NCBI Gene:149830, RefSeq DNA:NT_011387, RefSeq RNA:NR_024267, RefSeq RNA:NR_024268, RefSeq RNA:NR_024269 No chr20 4711928 4721314 4731282 4740668 +PA166049072 389333 HGNC:41906 ENSG00000228672 proline rich basic protein 1 PROB1 proline-rich basic protein 1 C5orf65 Yes No Ensembl:ENSG00000228672, HGNC:HGNC:41906, NCBI Gene:389333 No chr5 138727635 138730885 139391946 139395196 +PA33799 5624 HGNC:9451 ENSG00000115718 protein C, inactivator of coagulation factors Va and VIIIa PROC coagulation factor XIV, prepro-protein C, protein C (inactivator of coagulation factors Va and VIIIa) Yes Yes Comparative Toxicogenomics Database:5624, Ensembl:ENSG00000115718, GenAtlas:PROC, GeneCard:PROC, HGNC:HGNC:9451, HumanCyc Gene:HS03931, ModBase:P04070, NCBI Gene:5624, OMIM:176860, OMIM:612283, OMIM:612304, RefSeq DNA:NG_016323, RefSeq DNA:NT_022135, RefSeq Protein:NP_000303, RefSeq RNA:NM_000312, UCSC Genome Browser:NM_000312, UniProtKB:P04070 No chr2 128175996 128186822 127418221 127429246 +PA165432492 147011 HGNC:28600 ENSG00000167525 protein interacting with cyclin A1 PROCA1 proline-rich cyclin A1-interacting protein MGC39650 Yes No Ensembl:ENSG00000167525, GeneCard:PROCA1, HGNC:HGNC:28600, HumanCyc Gene:HS09568, NCBI Gene:147011, RefSeq DNA:NT_010799, RefSeq Protein:NP_689678, RefSeq RNA:NM_152465, UniProtKB:Q8NCQ7 No chr17 27030214 27039127 28703197 28712065 +PA33800 10544 HGNC:9452 ENSG00000101000 protein C receptor PROCR protein C receptor, endothelial CCD41, CD201, EPCR Yes Yes Comparative Toxicogenomics Database:10544, Ensembl:ENSG00000101000, GenAtlas:PROCR, GeneCard:PROCR, HGNC:HGNC:9452, HumanCyc Gene:HS02180, ModBase:Q9UNN8, NCBI Gene:10544, OMIM:600646, RefSeq DNA:NT_011362, RefSeq Protein:NP_006395, RefSeq RNA:NM_006404, UCSC Genome Browser:NM_006404, UniProtKB:Q9UNN8 No chr20 33759740 33803771 35171937 35215989 +PA33801 5625 HGNC:9453 ENSG00000100033 proline dehydrogenase 1 PRODH p53 Inducible gene 6, proline dehydrogenase (oxidase) 1, proline oxidase HSPOX2, PIG6, POX, PRODH1, PRODH2, SCZD4, TP53I6 Yes No Comparative Toxicogenomics Database:5625, Ensembl:ENSG00000100033, GenAtlas:PRODH, GeneCard:PRODH, HGNC:HGNC:9453, HumanCyc Gene:HS01958, NCBI Gene:5625, OMIM:239500, OMIM:600850, OMIM:606810, RefSeq DNA:NG_008226, RefSeq DNA:NT_011519, RefSeq Protein:NP_001182155, RefSeq Protein:NP_057419, RefSeq RNA:NM_001195226, RefSeq RNA:NM_016335, UCSC Genome Browser:NM_016335, UniProtKB:O43272 No chr22 18900206 18924066 18912774 18936553 +PA33802 58510 HGNC:17325 ENSG00000250799 proline dehydrogenase 2 PRODH2 Hydroxyproline dehydrogenase, proline dehydrogenase (oxidase) 2 HSPOX1 Yes No Comparative Toxicogenomics Database:58510, Ensembl:ENSG00000250799, GenAtlas:PRODH2, GeneCard:PRODH2, HGNC:HGNC:17325, ModBase:Q9UF12, NCBI Gene:58510, RefSeq DNA:NT_011109, RefSeq Protein:NP_067055, RefSeq RNA:NM_021232, UCSC Genome Browser:NM_021232, UniProtKB:Q9UF12 No chr19 36290892 36304201 35799987 35813299 +PA38539 84432 HGNC:18454 ENSG00000143125 prokineticin 1 PROK1 Endocrine gland-derived vascular endothelial growth factor, black mamba toxin-related protein, mambakine EG-VEGF, EGVEGF, PK1, PRK1 Yes No Ensembl:ENSG00000143125, GenAtlas:PROK1, GeneCard:PROK1, HGNC:HGNC:18454, HumanCyc Gene:HS06986, ModBase:P58294, NCBI Gene:84432, OMIM:606233, RefSeq DNA:NT_032977, RefSeq Protein:NP_115790, RefSeq RNA:NM_032414, UCSC Genome Browser:NM_032414, UniProtKB:P58294 No chr1 110993788 110999976 110451166 110457354 +PA38540 60675 HGNC:18455 ENSG00000163421 prokineticin 2 PROK2 protein Bv8 homolog BV8, KAL4, MIT1, PK2 Yes No Comparative Toxicogenomics Database:60675, Ensembl:ENSG00000163421, GenAtlas:PROK2, GeneCard:PROK2, HGNC:HGNC:18455, HumanCyc Gene:HS08847, ModBase:Q9HC23, NCBI Gene:60675, OMIM:146110, OMIM:607002, OMIM:610628, RefSeq DNA:NG_008275, RefSeq DNA:NT_022459, RefSeq Protein:NP_001119600, RefSeq Protein:NP_068754, RefSeq RNA:NM_001126128, RefSeq RNA:NM_021935, UCSC Genome Browser:NM_021935, UniProtKB:Q6ISR0, UniProtKB:Q9HC23 No chr3 71820806 71834357 71771655 71785206 +PA28916 10887 HGNC:4524 ENSG00000169618 prokineticin receptor 1 PROKR1 GPR73, GPR73a, PKR1, ZAQ Yes No Comparative Toxicogenomics Database:10887, Ensembl:ENSG00000169618, GenAtlas:PROKR1, GeneCard:PROKR1, HGNC:HGNC:4524, HumanCyc Gene:HS09979, IUPHAR Receptor:335, ModBase:Q8TCW9, NCBI Gene:10887, OMIM:607122, RefSeq DNA:NT_022184, RefSeq Protein:NP_620414, RefSeq RNA:NM_138964, UCSC Genome Browser:NM_138964, UniProtKB:Q8TCW9 No chr2 68870712 68883244 68645822 68655576 +PA30014 128674 HGNC:15836 ENSG00000101292 prokineticin receptor 2 PROKR2 GPR73L1, GPR73b, GPRg2, KAL3, PKR2, dJ680N4.3 Yes No Comparative Toxicogenomics Database:128674, Ensembl:ENSG00000101292, GenAtlas:KAL3, GenAtlas:PROKR2, GeneCard:KAL3, GeneCard:PROKR2, HGNC:HGNC:15836, HumanCyc Gene:HS02233, IUPHAR Receptor:336, ModBase:Q8NFJ6, NCBI Gene:128674, OMIM:244200, OMIM:607123, RefSeq DNA:NG_008132, RefSeq DNA:NT_011387, RefSeq Protein:NP_658986, RefSeq RNA:NM_144773, UCSC Genome Browser:NM_144773, UniProtKB:Q8NFJ6 No chr20 5281711 5297378 5298852 5317542 +PA33807 8842 HGNC:9454 ENSG00000007062 prominin 1 PROM1 """AC133 antigen"", ""Retinitis pigmentosa 41, Cone-rod dystrophy 12""" AC133, CD133, CORD12, MCDR2, PROML1, RP41, STGD4 Yes Yes Comparative Toxicogenomics Database:8842, Ensembl:ENSG00000007062, GeneCard:PROM1, HGNC:HGNC:9454, HumanCyc Gene:HS00203, ModBase:O43490, NCBI Gene:8842, OMIM:603786, OMIM:604365, OMIM:608051, OMIM:612095, OMIM:612657, RefSeq DNA:NG_011696, RefSeq DNA:NT_006316, RefSeq Protein:NP_001139319, RefSeq Protein:NP_001139320, RefSeq Protein:NP_001139321, RefSeq Protein:NP_001139322, RefSeq Protein:NP_001139323, RefSeq Protein:NP_001139324, RefSeq Protein:NP_006008, RefSeq RNA:NM_001145847, RefSeq RNA:NM_001145848, RefSeq RNA:NM_001145849, RefSeq RNA:NM_001145850, RefSeq RNA:NM_001145851, RefSeq RNA:NM_001145852, RefSeq RNA:NM_006017, UCSC Genome Browser:NM_006017, UniProtKB:O43490, UniProtKB:Q6SV49, UniProtKB:Q6SV50, UniProtKB:Q6SV51, UniProtKB:Q6SV52 No chr4 15969849 16085723 15968226 16084100 +PA134861956 150696 HGNC:20685 ENSG00000155066 prominin 2 PROM2 Yes No Comparative Toxicogenomics Database:150696, Ensembl:ENSG00000155066, GeneCard:PROM2, HGNC:HGNC:20685, HumanCyc Gene:HS08025, NCBI Gene:150696, RefSeq DNA:NT_022171, RefSeq Protein:NP_001159449, RefSeq Protein:NP_001159450, RefSeq Protein:NP_653308, RefSeq RNA:NM_001165977, RefSeq RNA:NM_001165978, RefSeq RNA:NM_144707, UniProtKB:B2R879, UniProtKB:Q8N271 No chr2 95939674 95966067 95274448 95291320 +PA33808 5626 HGNC:9455 ENSG00000175325 PROP paired-like homeobox 1 PROP1 Yes No Comparative Toxicogenomics Database:5626, Ensembl:ENSG00000175325, GenAtlas:PROP1, GeneCard:PROP1, HGNC:HGNC:9455, HumanCyc Gene:HS10913, ModBase:O75360, NCBI Gene:5626, OMIM:262600, OMIM:601538, RefSeq DNA:NG_015889, RefSeq DNA:NT_023133, RefSeq Protein:NP_006252, RefSeq RNA:NM_006261, UCSC Genome Browser:NM_006261, UniProtKB:O75360 No chr5 177419236 177423243 177992235 177996242 +PA134879499 9692 HGNC:19958 ENSG00000100890 protein only RNase P catalytic subunit PRORP Mitochondrial ribonuclease P catalytic subunit, mitochondrial RNase P subunit 3, proteinaceous RNase P KIAA0391, MRPP3, PRORP Yes Yes Ensembl:ENSG00000100890, GeneCard:KIAA0391, HGNC:HGNC:19958, HumanCyc Gene:HS12429, ModBase:O15091, NCBI Gene:9692, OMIM:609947, RefSeq DNA:NT_026437, RefSeq Protein:NP_055487, RefSeq RNA:NM_014672, UniProtKB:O15091 No chr14 35591527 35743284 35121855 35274078 +PA164723675 344405 HGNC:34379 ENSG00000162997 prolyl-tRNA synthetase associated domain containing 1, pseudogene PRORSD1P YBak domain containing 1 Prdxdd1, Ybakd1 Yes No Ensembl:ENSG00000162997, HGNC:HGNC:34379, NCBI Gene:344405, RefSeq DNA:NT_022184, RefSeq RNA:NR_027258, RefSeq RNA:XR_042020, RefSeq RNA:XR_042021, RefSeq RNA:XR_042022 No chr2 55509455 55511608 55282319 55284472 +PA165791229 100533178 HGNC:38732 ENSG00000183146 PRORY Y-linked lncRNA PRORY """chromosome Y open reading frame 17"", ""proline rich Y-linked"", ""proline rich, Y-linked""" CYorf17 Yes No Ensembl:ENSG00000183146, HGNC:HGNC:38732, NCBI Gene:100533178 No chrY 23545072 23548149 21381674 21454622 +PA33809 5627 HGNC:9456 ENSG00000184500 protein S PROS1 protein S (alpha) PROS Yes Yes Comparative Toxicogenomics Database:5627, Ensembl:ENSG00000184500, GenAtlas:PROS1, GeneCard:PROS1, HGNC:HGNC:9456, HumanCyc Gene:HS09937, ModBase:P07225, NCBI Gene:5627, OMIM:176880, OMIM:612336, RefSeq DNA:NG_009813, RefSeq DNA:NT_005612, RefSeq Protein:NP_000304, RefSeq RNA:NM_000313, UCSC Genome Browser:NM_000313, UniProtKB:P07225 No chr3 93591881 93692934 93873037 93974090 +PA134912550 80209 HGNC:20291 ENSG00000120685 proline and serine rich 1 PROSER1 C13orf23, FLJ12661, bA50D16.2 Yes No Ensembl:ENSG00000120685, GeneCard:C13orf23, HGNC:HGNC:20291, HumanCyc Gene:HS13001, ModBase:Q86XN7, NCBI Gene:80209, RefSeq DNA:NT_024524, RefSeq Protein:NP_079414, RefSeq Protein:NP_733837, RefSeq RNA:NM_025138, RefSeq RNA:NM_170719, UniProtKB:A6NJ97, UniProtKB:Q86XN7 No chr13 39584002 39612213 39009865 39038115 +PA134910296 254427 HGNC:23728 ENSG00000148426 proline and serine rich 2 PROSER2 proline and serine-rich protein 2 C10orf47, MGC35403 Yes No Ensembl:ENSG00000148426, GeneCard:C10orf47, HGNC:HGNC:23728, HumanCyc Gene:HS14243, NCBI Gene:254427, RefSeq DNA:NT_008705, RefSeq Protein:NP_694988, RefSeq RNA:NM_153256, UniProtKB:Q86WR7 No chr10 11865295 11914276 11823341 11872277 +PA162378639 148137 HGNC:25204 ENSG00000167595 proline and serine rich 3 PROSER3 chromosome 19 open reading frame 55 C19orf55, FLJ30657 Yes No Ensembl:ENSG00000167595, GeneCard:C19orf55, HGNC:HGNC:25204, HumanCyc Gene:HS15569, NCBI Gene:148137, RefSeq DNA:NT_011109, RefSeq Protein:NP_001034976, RefSeq RNA:NM_001039887, UniProtKB:Q2NL68 No chr19 36249044 36260077 35758139 35770115 +PA33812 5629 HGNC:9459 ENSG00000117707 prospero homeobox 1 PROX1 Yes Yes Comparative Toxicogenomics Database:5629, Ensembl:ENSG00000117707, GenAtlas:PROX1, GeneCard:PROX1, HGNC:HGNC:9459, HumanCyc Gene:HS04168, ModBase:Q92786, NCBI Gene:5629, OMIM:601546, RefSeq DNA:NT_167186, RefSeq Protein:NP_002754, RefSeq RNA:NM_002763, UCSC Genome Browser:NM_002763, UniProtKB:Q92786 No chr1 214161278 214214853 213983239 214041510 +PA166129563 100505832 HGNC:43656 ENSG00000230461 PROX1 antisense RNA 1 PROX1-AS1 Yes No Ensembl:ENSG00000230461, HGNC:HGNC:43656, NCBI Gene:100505832 No chr1 213995227 214160147 213819641 213986153 +PA162400142 283571 HGNC:26715 ENSG00000119608 prospero homeobox 2 PROX2 FLJ36749 Yes No Ensembl:ENSG00000119608, GeneCard:PROX2, HGNC:HGNC:26715, HumanCyc Gene:HS12944, NCBI Gene:283571, RefSeq DNA:NT_026437, RefSeq Protein:NP_001073877, RefSeq RNA:NM_001080408, UniProtKB:Q3B8N5 No chr14 75319736 75330562 74853033 74876663 +PA33813 8858 HGNC:9460 ENSG00000126231 protein Z, vitamin K dependent plasma glycoprotein PROZ protein Z, vitamin K-dependent plasma glycoprotein PZ Yes No Ensembl:ENSG00000126231, GenAtlas:PROZ, GeneCard:PROZ, HGNC:HGNC:9460, HumanCyc Gene:HS05001, ModBase:P22891, NCBI Gene:8858, OMIM:176895, RefSeq DNA:NT_027140, RefSeq Protein:NP_003882, RefSeq RNA:NM_003891, UCSC Genome Browser:NM_003891, UniProtKB:P22891 No chr13 113812968 113826698 113155864 113172386 +PA38447 8899 HGNC:17346 ENSG00000112739 pre-mRNA processing factor kinase PRP4K PRP4K PRP4 pre-mRNA processing factor 4 homolog B (yeast), pre-mRNA processing factor 4B KIAA0536, PR4H, PRPF4B, Prp4, Prp4B Yes No Comparative Toxicogenomics Database:8899, Ensembl:ENSG00000112739, GenAtlas:PRPF4B, GeneCard:PRPF4B, HGNC:HGNC:17346, HumanCyc Gene:HS03613, ModBase:Q13523, NCBI Gene:8899, OMIM:602338, RefSeq DNA:NT_007592, RefSeq Protein:NP_003904, RefSeq RNA:NM_003913, UCSC Genome Browser:NM_003913, UniProtKB:Q13523 No chr6 4021563 4065217 4019402 4064983 +PA38449 8559 HGNC:17351 ENSG00000165630 pre-mRNA processing factor 18 PRPF18 PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) hPrp18 Yes No Ensembl:ENSG00000165630, GenAtlas:PRPF18, GeneCard:PRPF18, HGNC:HGNC:17351, HumanCyc Gene:HS09258, ModBase:Q99633, NCBI Gene:8559, OMIM:604993, RefSeq DNA:NT_008705, RefSeq Protein:NP_003666, RefSeq RNA:NM_003675, UCSC Genome Browser:NM_003675, UniProtKB:Q99633 No chr10 13628939 13672868 13586811 13645279 +PA134941355 27339 HGNC:17896 ENSG00000110107 pre-mRNA processing factor 19 PRPF19 PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae), nuclear matrix protein NMP200 related to splicing factor PRP19, psoralen 4 NMP200, PRP19, PSO4, SNEV, UBOX4, hPSO4 Yes No Comparative Toxicogenomics Database:27339, Ensembl:ENSG00000110107, GeneCard:PRPF19, HGNC:HGNC:17896, HumanCyc Gene:HS03288, ModBase:Q9UMS4, NCBI Gene:27339, OMIM:608330, RefSeq DNA:NT_167190, RefSeq Protein:NP_055317, RefSeq RNA:NM_014502, UniProtKB:Q9UMS4 No chr11 60658019 60674061 60890547 60906589 +PA134892509 9129 HGNC:17348 ENSG00000117360 pre-mRNA processing factor 3 PRPF3 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae), U4/U6 small nuclear ribonucleoprotein Prp3 HPRP3, Prp3, RP18, SNRNP90, hPrp3 Yes No Comparative Toxicogenomics Database:9129, Ensembl:ENSG00000117360, GeneCard:PRPF3, HGNC:HGNC:17348, HumanCyc Gene:HS04121, ModBase:O43395, NCBI Gene:9129, OMIM:601414, OMIM:607301, RefSeq DNA:NG_008245, RefSeq DNA:NT_004487, RefSeq Protein:NP_004689, RefSeq RNA:NM_004698, UniProtKB:O43395 No chr1 150293928 150325704 150321479 150353233 +PA33814 26121 HGNC:15446 ENSG00000105618 pre-mRNA processing factor 31 PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), U4/U6 small nuclear ribonucleoprotein Prp31 NY-BR-99, PRP31, RP11, SNRNP61, hPrp31 Yes Yes Comparative Toxicogenomics Database:26121, Ensembl:ENSG00000105618, GenAtlas:PRPF31, GeneCard:PRPF31, HGNC:HGNC:15446, HumanCyc Gene:HS12597, ModBase:Q8WWY3, NCBI Gene:26121, OMIM:600138, OMIM:606419, RefSeq DNA:NG_009759, RefSeq DNA:NT_011109, RefSeq Protein:NP_056444, RefSeq RNA:NM_015629, UCSC Genome Browser:NM_015629, UniProtKB:Q8WWY3 No chr19 54618790 54635150 54115410 54131719 +PA142671125 84950 HGNC:25930 ENSG00000134748 pre-mRNA processing factor 38A PRPF38A PRP38 pre-mRNA processing factor 38 (yeast) domain containing A FLJ14936, Prp38 Yes No Comparative Toxicogenomics Database:84950, Ensembl:ENSG00000134748, GeneCard:PRPF38A, HGNC:HGNC:25930, HumanCyc Gene:HS13542, ModBase:Q8NAV1, NCBI Gene:84950, RefSeq DNA:NT_032977, RefSeq Protein:NP_116253, RefSeq RNA:NM_032864, UniProtKB:Q8NAV1 No chr1 52870219 52883992 52404547 52419723 +PA142671126 55119 HGNC:25512 ENSG00000134186 pre-mRNA processing factor 38B PRPF38B PRP38 pre-mRNA processing factor 38 (yeast) domain containing B FLJ10330, NET1 Yes No Comparative Toxicogenomics Database:55119, Ensembl:ENSG00000134186, GeneCard:PRPF38B, HGNC:HGNC:25512, HumanCyc Gene:HS13512, ModBase:Q9NW40, NCBI Gene:55119, RefSeq DNA:NT_032977, RefSeq Protein:NP_060531, RefSeq RNA:NM_018061, RefSeq RNA:NR_037185, UniProtKB:Q5VTL8, UniProtKB:Q69YH0 No chr1 109234932 109244425 108692292 108701803 +PA142671127 55015 HGNC:20314 ENSG00000185246 pre-mRNA processing factor 39 PRPF39 PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) FLJ11128, FLJ20666 Yes No Comparative Toxicogenomics Database:55015, Ensembl:ENSG00000185246, GeneCard:PRPF39, HGNC:HGNC:20314, HumanCyc Gene:HS02086, ModBase:Q86UA1, NCBI Gene:55015, RefSeq DNA:NT_026437, RefSeq Protein:NP_060392, RefSeq RNA:NM_017922, UniProtKB:Q86UA1 No chr14 45553302 45584804 45084099 45115601 +PA38448 9128 HGNC:17349 ENSG00000136875 pre-mRNA splicing tri-snRNP complex factor PRPF4 PRPF4 PRP4 pre-mRNA processing factor 4 homolog (yeast), PRP4/STK/WD splicing factor, U4/U6 small nuclear ribonucleoprotein Prp4, pre-mRNA processing factor 4 HPRP4, HPRP4P, PRP4, Prp4p, SNRNP60 Yes No Ensembl:ENSG00000136875, GenAtlas:PRPF4, GeneCard:PRPF4, HGNC:HGNC:17349, HumanCyc Gene:HS06236, ModBase:O43172, NCBI Gene:9128, OMIM:607795, RefSeq DNA:NT_008470, RefSeq Protein:NP_004688, RefSeq RNA:NM_004697, UCSC Genome Browser:NM_004697, UniProtKB:O43172 No chr9 116037914 116056079 113275634 113292905 +PA28195 55660 HGNC:16463 ENSG00000196504 pre-mRNA processing factor 40 homolog A PRPF40A PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) FBP-11, FBP11, FLAF1, FLJ20585, FNBP3, HIP10, HYPA, NY-REN-6, Prp40 Yes No Comparative Toxicogenomics Database:55660, Ensembl:ENSG00000196504, GenAtlas:PRPF40A, GeneCard:PRPF40A, HGNC:HGNC:16463, HumanCyc Gene:HS06182, ModBase:O75400, NCBI Gene:55660, OMIM:612941, RefSeq DNA:NT_005403, RefSeq Protein:NP_060362, RefSeq RNA:NM_017892, UCSC Genome Browser:NM_017892, UniProtKB:O75400, UniProtKB:Q05C41 No chr2 153508107 153574628 152651593 152718007 +PA143485582 25766 HGNC:25031 ENSG00000110844 pre-mRNA processing factor 40 homolog B PRPF40B Huntingtin interacting protein C, PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) HYPC Yes No Ensembl:ENSG00000110844, GeneCard:PRPF40B, HGNC:HGNC:25031, ModBase:Q6NWY9, NCBI Gene:25766, RefSeq DNA:NT_029419, RefSeq Protein:NP_001026868, RefSeq Protein:NP_036404, RefSeq RNA:NM_001031698, RefSeq RNA:NM_012272, UniProtKB:Q6NWY9 No chr12 50017197 50038452 49622717 49644669 +PA25682 24148 HGNC:15860 ENSG00000101161 pre-mRNA processing factor 6 PRPF6 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) ANT-1, C20orf14, Prp6, RP60, SNRNP102, TOM, U5-102K, bB152O15.1, hPrp6 Yes No Comparative Toxicogenomics Database:24148, Ensembl:ENSG00000101161, GenAtlas:PRPF6, GeneCard:PRPF6, HGNC:HGNC:15860, HumanCyc Gene:HS02206, ModBase:O94906, NCBI Gene:24148, RefSeq DNA:NT_011333, RefSeq Protein:NP_036601, RefSeq RNA:NM_012469, UCSC Genome Browser:NM_012469, UniProtKB:O94906 No chr20 62612417 62664453 63981069 64033100 +PA33815 10594 HGNC:17340 ENSG00000174231 pre-mRNA processing factor 8 PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) PRPC8, Prp8, RP13, SNRNP220, hPrp8 Yes No Comparative Toxicogenomics Database:10594, Ensembl:ENSG00000174231, GenAtlas:PRPF8, GeneCard:PRPF8, HGNC:HGNC:17340, HumanCyc Gene:HS10777, ModBase:Q6P2Q9, NCBI Gene:10594, OMIM:600059, OMIM:607300, RefSeq DNA:NG_009118, RefSeq DNA:NT_010718, RefSeq Protein:NP_006436, RefSeq RNA:NM_006445, UCSC Genome Browser:NM_006445, UniProtKB:Q6P2Q9 No chr17 1553923 1588176 1650629 1684882 +PA33816 5630 HGNC:9461 ENSG00000135406 peripherin PRPH NEF4, PRPH1 Yes No Comparative Toxicogenomics Database:5630, Ensembl:ENSG00000135406, GenAtlas:PRPH, GeneCard:PRPH, HGNC:HGNC:9461, HumanCyc Gene:HS05997, ModBase:P41219, NCBI Gene:5630, OMIM:105400, OMIM:170710, RefSeq DNA:NG_008354, RefSeq DNA:NT_029419, RefSeq Protein:NP_006253, RefSeq RNA:NM_006262, UCSC Genome Browser:NM_006262, UniProtKB:B3KWQ6, UniProtKB:P41219 No chr12 49688796 49692481 49295013 49298698 +PA34310 5961 HGNC:9942 ENSG00000112619 peripherin 2 PRPH2 """choroidal dystrophy, central areolar 2"", ""peripherin 2 (retinal degeneration, slow)"", ""retinal peripherin"", ""tetraspanin-22""" CACD2, RDS, RP7, TSPAN22, rd2 Yes No Comparative Toxicogenomics Database:5961, Ensembl:ENSG00000112619, GenAtlas:RDS, GeneCard:PRPH2, GeneCard:RDS, HGNC:HGNC:9942, HumanCyc Gene:HS03595, NCBI Gene:5961, OMIM:136880, OMIM:169150, OMIM:179605, OMIM:608133, OMIM:608161, OMIM:613105, RefSeq DNA:NG_009176, RefSeq DNA:NT_007592, RefSeq Protein:NP_000313, RefSeq RNA:NM_000322, UCSC Genome Browser:NM_000322, UniProtKB:P23942 No chr6 42664333 42690692 42694509 42723024 +PA33817 5631 HGNC:9462 ENSG00000147224 phosphoribosyl pyrophosphate synthetase 1 PRPS1 PRS I, ribose-phosphate diphosphokinase 1 CMTX5, DFN2, DFNX1, PPRibP, PRS-I Yes No Comparative Toxicogenomics Database:5631, Ensembl:ENSG00000147224, GenAtlas:PRPS1, GeneCard:PRPS1, HGNC:HGNC:9462, HumanCyc Gene:HS07410, ModBase:P60891, NCBI Gene:5631, OMIM:300661, OMIM:301835, OMIM:304500, OMIM:311070, OMIM:311850, RefSeq DNA:NG_008407, RefSeq DNA:NT_011651, RefSeq Protein:NP_001191331, RefSeq Protein:NP_002755, RefSeq RNA:NM_001204402, RefSeq RNA:NM_002764, UCSC Genome Browser:NM_002764, UniProtKB:P60891 No chrX 106871654 106894256 107628424 107651026 +PA33818 221823 HGNC:9463 ENSG00000229937 phosphoribosyl pyrophosphate synthetase 1 like 1 PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 PRPS3, PRPSL Yes No Comparative Toxicogenomics Database:221823, Ensembl:ENSG00000229937, GenAtlas:PRPS1L1, GeneCard:PRPS1L1, HGNC:HGNC:9463, HumanCyc Gene:HS11931, ModBase:P21108, NCBI Gene:221823, OMIM:611566, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_787082, RefSeq RNA:NM_175886, UniProtKB:P21108 No chr7 18066397 18067486 18026774 18027863 +PA33819 100421295 HGNC:9464 ENSG00000232630 phosphoribosyl pyrophosphate synthetase 1 pseudogene 2 PRPS1P2 Yes No Ensembl:ENSG00000232630, GenAtlas:PRPS1L2, GeneCard:PRPS1L2, HGNC:HGNC:9464, NCBI Gene:100421295 No chr9 127912933 127913867 125150654 125151588 +PA33820 5634 HGNC:9465 ENSG00000101911 phosphoribosyl pyrophosphate synthetase 2 PRPS2 PRS II, ribose-phosphate diphosphokinase 2 Yes No Comparative Toxicogenomics Database:5634, Ensembl:ENSG00000101911, GenAtlas:PRPS2, GeneCard:PRPS2, HGNC:HGNC:9465, HumanCyc Gene:HS02317, ModBase:P11908, NCBI Gene:5634, OMIM:311860, RefSeq DNA:NG_016717, RefSeq DNA:NT_167197, RefSeq Protein:NP_001034180, RefSeq Protein:NP_002756, RefSeq RNA:NM_001039091, RefSeq RNA:NM_002765, UCSC Genome Browser:NM_002765, UniProtKB:P11908 No chrX 12809474 12842346 12791355 12824227 +PA33821 5635 HGNC:9466 ENSG00000161542 phosphoribosyl pyrophosphate synthetase associated protein 1 PRPSAP1 phosphoribosyl pyrophosphate synthetase-associated protein 1 PAP39 Yes No Comparative Toxicogenomics Database:5635, Ensembl:ENSG00000161542, GenAtlas:PRPSAP1, GeneCard:PRPSAP1, HGNC:HGNC:9466, HumanCyc Gene:HS08590, ModBase:Q14558, NCBI Gene:5635, OMIM:601249, RefSeq DNA:NT_010783, RefSeq Protein:NP_002757, RefSeq RNA:NM_002766, UCSC Genome Browser:NM_002766, UniProtKB:Q14558 No chr17 74306868 74379970 76310787 76354149 +PA33822 5636 HGNC:9467 ENSG00000141127 phosphoribosyl pyrophosphate synthetase associated protein 2 PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2 PAP41 Yes No Comparative Toxicogenomics Database:5636, Ensembl:ENSG00000141127, GenAtlas:PRPSAP2, GeneCard:PRPSAP2, HGNC:HGNC:9467, HumanCyc Gene:HS06801, ModBase:O60256, NCBI Gene:5636, OMIM:603762, RefSeq DNA:NT_010718, RefSeq Protein:NP_002758, RefSeq RNA:NM_002767, UCSC Genome Browser:NM_002767, UniProtKB:O60256 No chr17 18759612 18834600 18856299 18931287 +PA142671131 55771 HGNC:25619 ENSG00000068489 proline rich 11 PRR11 FLJ11029 Yes No Ensembl:ENSG00000068489, GeneCard:PRR11, HGNC:HGNC:25619, HumanCyc Gene:HS12194, ModBase:Q96HE9, NCBI Gene:55771, RefSeq DNA:NT_010783, RefSeq Protein:NP_060774, RefSeq RNA:NM_018304, UniProtKB:D2SNZ4, UniProtKB:Q96HE9 No chr17 57232860 57284070 59155499 59206709 +PA134903328 57479 HGNC:29217 ENSG00000126464 proline rich 12 PRR12 KIAA1205 Yes No Ensembl:ENSG00000126464, GeneCard:PRR12, HGNC:HGNC:29217, NCBI Gene:57479, RefSeq DNA:NT_011109, RefSeq Protein:NP_065770, RefSeq RNA:NM_020719, UniProtKB:Q9ULL5 No chr19 50094912 50129696 49591177 49626439 +PA143485583 54458 HGNC:24528 ENSG00000205352 proline rich 13 PRR13 DKFZP564J157, FLJ23818 Yes No Comparative Toxicogenomics Database:54458, Ensembl:ENSG00000205352, GeneCard:PRR13, HGNC:HGNC:24528, ModBase:Q9NZ81, NCBI Gene:54458, OMIM:610459, RefSeq DNA:NT_029419, RefSeq Protein:NP_001005354, RefSeq Protein:NP_060927, RefSeq RNA:NM_001005354, RefSeq RNA:NM_018457, UniProtKB:Q9NZ81 No chr12 53835433 53840427 53441649 53446643 +PA144596393 78994 HGNC:28458 ENSG00000156858 proline rich 14 PRR14 MGC3121 Yes No Ensembl:ENSG00000156858, GeneCard:PRR14, HGNC:HGNC:28458, HumanCyc Gene:HS14637, ModBase:Q9BWN1, NCBI Gene:78994, RefSeq DNA:NT_010393, RefSeq Protein:NP_076936, RefSeq RNA:NM_024031, UniProtKB:Q9BWN1 No chr16 30662038 30667734 30650702 30656440 +PA145149425 253143 HGNC:28738 ENSG00000183530 proline rich 14 like PRR14L proline rich 14-like C22orf30, MGC50372 Yes No Ensembl:ENSG00000183530, GeneCard:C22orf30, HGNC:HGNC:28738, NCBI Gene:253143, RefSeq DNA:NT_011520, RefSeq Protein:NP_775837, RefSeq RNA:NM_173566, UniProtKB:Q5THK1 No chr22 32077333 32146120 31681347 31750176 +PA162400154 222171 HGNC:22310 ENSG00000176532 proline rich 15 PRR15 Yes No Ensembl:ENSG00000176532, GeneCard:PRR15, HGNC:HGNC:22310, NCBI Gene:222171, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_787083, RefSeq RNA:NM_175887, UniProtKB:A4D1A1, UniProtKB:Q8IV56 No chr7 29603039 29606911 29563796 29567300 +PA165432527 79170 HGNC:28149 ENSG00000167183 proline rich 15 like PRR15L proline rich 15-like ATAD4, MGC11242 Yes No Comparative Toxicogenomics Database:79170, Ensembl:ENSG00000167183, GeneCard:PRR15L, HGNC:HGNC:28149, HumanCyc Gene:HS15532, NCBI Gene:79170, RefSeq DNA:NT_010783, RefSeq Protein:NP_077296, RefSeq RNA:NM_024320, UniProtKB:Q9BU68 No chr17 46029333 46035252 47951967 47957905 +PA162400155 51334 HGNC:29654 ENSG00000184838 proline rich 16 PRR16 Largen DSC54 Yes No Ensembl:ENSG00000184838, GeneCard:PRR16, HGNC:HGNC:29654, NCBI Gene:51334, RefSeq DNA:NT_034772, RefSeq Protein:NP_057728, RefSeq RNA:NM_016644, UniProtKB:Q569H4 No chr5 119799973 120023009 120464222 120794587 +PA162400157 285800 HGNC:28574 ENSG00000176381 proline rich 18 PRR18 MGC35308 Yes No Ensembl:ENSG00000176381, GeneCard:PRR18, HGNC:HGNC:28574, NCBI Gene:285800, RefSeq DNA:NT_025741, RefSeq Protein:NP_787118, RefSeq RNA:NM_175922, UniProtKB:Q8N4B5 No chr6 166718788 166722011 166305680 166308383 +PA162400164 284338 HGNC:33728 ENSG00000188368 proline rich 19 PRR19 MGC70924 Yes No Ensembl:ENSG00000188368, GeneCard:PRR19, HGNC:HGNC:33728, ModBase:A6NJB7, NCBI Gene:284338, RefSeq DNA:NT_011109, RefSeq Protein:NP_954979, RefSeq RNA:NM_199285, UniProtKB:A6NJB7 No chr19 42806284 42814973 42302132 42310821 +PA165505341 122183 HGNC:24754 ENSG00000204919 proline rich 20A PRR20A FLJ40296, PRR20 Yes No Ensembl:ENSG00000204919, GeneCard:PRR20A, HGNC:HGNC:24754, NCBI Gene:122183, RefSeq DNA:NT_024524, RefSeq Protein:NP_940843, RefSeq RNA:NM_198441 No chr13 57715052 57718073 57140918 57143939 +PA165505352 729233 HGNC:37220 ENSG00000204918 proline rich 20B PRR20B Yes No Ensembl:ENSG00000204918, GeneCard:PRR20B, HGNC:HGNC:37220, NCBI Gene:729233, RefSeq DNA:NT_024524, RefSeq Protein:NP_001123876, RefSeq RNA:NM_001130404 No chr13 57721622 57724643 57147488 57150509 +PA165505363 729240 HGNC:37221 ENSG00000229665 proline rich 20C PRR20C Yes No Ensembl:ENSG00000229665, GeneCard:PRR20C, HGNC:HGNC:37221, NCBI Gene:729240, RefSeq DNA:NT_024524, RefSeq Protein:NP_001123877, RefSeq Protein:XP_002347323, RefSeq RNA:NM_001130405, RefSeq RNA:XM_002347282 No chr13 57728195 57731216 57154061 57157082 +PA165505462 729246 HGNC:37222 ENSG00000227151 proline rich 20D PRR20D Yes No Ensembl:ENSG00000227151, GeneCard:PRR20D, HGNC:HGNC:37222, NCBI Gene:729246, RefSeq DNA:NT_024524, RefSeq Protein:NP_001123878, RefSeq RNA:NM_001130406 No chr13 57734766 57737787 57160632 57163653 +PA165505473 729250 HGNC:37223 ENSG00000234278 proline rich 20E PRR20E Yes No Ensembl:ENSG00000234278, GeneCard:PRR20E, HGNC:HGNC:37223, NCBI Gene:729250, RefSeq DNA:NT_024524, RefSeq Protein:NP_001123879, RefSeq RNA:NM_001130407, UniProtKB:P86478, UniProtKB:P86479, UniProtKB:P86480, UniProtKB:P86481, UniProtKB:P86496 No chr13 57741331 57744352 57167197 57170218 +PA166181609 100419008 HGNC:53837 ENSG00000239620 proline rich 20G PRR20G Yes No Ensembl:ENSG00000239620, HGNC:HGNC:53837, NCBI Gene:100419008 No 0 0 0 0 +PA165697417 643905 HGNC:33866 proline rich 21 PRR21 Yes No GeneCard:PRR21, HGNC:HGNC:33866, NCBI Gene:643905, RefSeq DNA:NT_005416, RefSeq Protein:NP_001074304, RefSeq RNA:NM_001080835, UniProtKB:Q8WXC7 No chr2 240981230 240982399 240041813 240042982 +PA165394215 163154 HGNC:28354 ENSG00000212123 proline rich 22 PRR22 MGC24975 Yes No Ensembl:ENSG00000212123, GeneCard:PRR22, HGNC:HGNC:28354, NCBI Gene:163154, RefSeq DNA:NT_011255, RefSeq Protein:NP_001127788, RefSeq Protein:NP_699190, RefSeq RNA:NM_001134316, RefSeq RNA:NM_153359, UniProtKB:Q8IZ63 No chr19 5782971 5784776 5782960 5784765 +PA165698130 729627 HGNC:37172 ENSG00000206260 proline rich 23A PRR23A Yes No Ensembl:ENSG00000206260, GeneCard:PRR23A, HGNC:HGNC:37172, NCBI Gene:729627, RefSeq DNA:NT_005612, RefSeq Protein:NP_001128131, RefSeq RNA:NM_001134659, UniProtKB:A6NEV1 No chr3 138722804 138725110 139003962 139006268 +PA165698144 389151 HGNC:33764 ENSG00000184814 proline rich 23B PRR23B FLJ46116 Yes No Ensembl:ENSG00000184814, GeneCard:PRR23B, HGNC:HGNC:33764, NCBI Gene:389151, RefSeq DNA:NT_005612, RefSeq Protein:NP_001013672, RefSeq RNA:NM_001013650, UniProtKB:Q6ZRT6 No chr3 138737873 138739768 139019031 139020926 +PA165698175 389152 HGNC:37173 ENSG00000233701 proline rich 23C PRR23C FLJ46210 Yes No Ensembl:ENSG00000233701, GeneCard:PRR23C, HGNC:HGNC:37173, NCBI Gene:389152, RefSeq DNA:NT_005612, RefSeq Protein:NP_001128129, RefSeq RNA:NM_001134657, UniProtKB:Q6ZRP0 No chr3 138760944 138763734 139042102 139044892 +PA166123728 100131608 HGNC:49420 ENSG00000255251 proline rich 23 domain containing 1 PRR23D1 Yes No Ensembl:ENSG00000255251, HGNC:HGNC:49420, NCBI Gene:100131608 No +PA166123729 100133251 HGNC:49396 ENSG00000255378 proline rich 23 domain containing 2 PRR23D2 Yes No Ensembl:ENSG00000255378, HGNC:HGNC:49396, NCBI Gene:100133251 No +PA143485332 285311 HGNC:32481 ENSG00000214324 PRR23 family member E PRR23E chromosome 3 open reading frame 56 C3orf56, FLJ40141 Yes No Ensembl:ENSG00000214324, GeneCard:C3orf56, HGNC:HGNC:32481, ModBase:Q8N813, NCBI Gene:285311, RefSeq DNA:NT_005612, RefSeq RNA:XR_078289, RefSeq RNA:XR_078964, RefSeq RNA:XR_079154, RefSeq RNA:XR_108480 No chr3 126911974 126917028 127193131 127198185 +PA165450599 388199 HGNC:37230 proline rich 25 PRR25 gs64 Yes No GeneCard:PRR25, HGNC:HGNC:37230, NCBI Gene:388199, RefSeq DNA:NT_010393, RefSeq Protein:NP_001013660, RefSeq Protein:XP_002344986, RefSeq RNA:NM_001013638, RefSeq RNA:XM_002344945, UniProtKB:Q96S07 No chr16 855443 863861 805443 813861 +PA162379834 401137 HGNC:33193 ENSG00000187533 proline rich 27 PRR27 chromosome 4 open reading frame 40 C4orf40 Yes No Ensembl:ENSG00000187533, GeneCard:C4orf40, HGNC:HGNC:33193, ModBase:Q6MZM9, NCBI Gene:401137, RefSeq DNA:NT_022778, RefSeq Protein:NP_999876, RefSeq RNA:NM_214711, UniProtKB:Q6MZM9 No chr4 71017793 71032326 70154187 70166609 +PA142672220 92340 HGNC:25673 ENSG00000224383 proline rich 29 PRR29 chromosome 17 open reading frame 72 C17orf72, DKFZp761M2312, FLJ11724 Yes No Ensembl:ENSG00000224383, GeneCard:C17orf72, HGNC:HGNC:25673, NCBI Gene:92340, RefSeq DNA:NT_010783, RefSeq Protein:NP_001157729, RefSeq Protein:NP_001177958, RefSeq Protein:NP_001177959, RefSeq Protein:NP_001177960, RefSeq RNA:NM_001164257, RefSeq RNA:NM_001191029, RefSeq RNA:NM_001191030, RefSeq RNA:NM_001191031, RefSeq RNA:NR_015354, UniProtKB:P0C7W0 No chr17 62075711 62081645 63998351 64004305 +PA134950097 80742 HGNC:21149 ENSG00000204576, ENSG00000206491, ENSG00000223766, ENSG00000223887, ENSG00000228186, ENSG00000229202, ENSG00000233564 proline rich 3 PRR3 CAT56, Em:AB014077.1, Em:AB023052.2 Yes No Ensembl:ENSG00000204576, Ensembl:ENSG00000206491, Ensembl:ENSG00000223766, Ensembl:ENSG00000223887, Ensembl:ENSG00000228186, Ensembl:ENSG00000229202, Ensembl:ENSG00000233564, GeneCard:PRR3, HGNC:HGNC:21149, ModBase:P79522, NCBI Gene:80742, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001070965, RefSeq Protein:NP_079539, RefSeq RNA:NM_001077497, RefSeq RNA:NM_025263, UniProtKB:B3KQA4, UniProtKB:P79522, UniProtKB:Q96QB9 No chr6 30524486 30532473 30556709 30564696 +PA162379215 339779 HGNC:28677 ENSG00000186143 proline rich 30 PRR30 chromosome 2 open reading frame 53 C2orf53, MGC44505 Yes No Ensembl:ENSG00000186143, GeneCard:C2orf53, HGNC:HGNC:28677, ModBase:Q53SZ7, NCBI Gene:339779, RefSeq DNA:NT_022184, RefSeq Protein:NP_848648, RefSeq RNA:NM_178553, UniProtKB:Q53SZ7 No chr2 27359715 27362332 27136847 27139464 +PA162383082 100130613 HGNC:34498 ENSG00000183631 proline rich 32 PRR32 chromosome X open reading frame 64 CXorf64 Yes No Ensembl:ENSG00000183631, GeneCard:CXorf64, HGNC:HGNC:34498, ModBase:B1ATL7, NCBI Gene:100130613, RefSeq DNA:NG_021226, RefSeq DNA:NT_011786, RefSeq Protein:NP_001116188, RefSeq RNA:NM_001122716, UniProtKB:B1ATL7 No chrX 125953747 125955769 126819764 126821786 +PA166049019 102724536 HGNC:35118 ENSG00000283787 proline rich 33 PRR33 chromosome 11 open reading frame 89 C11orf89, LOC728008 Yes No Ensembl:ENSG00000283787, HGNC:HGNC:35118, NCBI Gene:102724536 No chr11 +PA145149369 55267 HGNC:25606 ENSG00000182257 proline rich 34 PRR34 C22orf26, chromosome 22 open reading frame 26 FLJ10945 Yes No Ensembl:ENSG00000182257, GeneCard:C22orf26, HGNC:HGNC:25606, NCBI Gene:55267, RefSeq DNA:NT_011520, RefSeq Protein:NP_060750, RefSeq RNA:NM_018280, UniProtKB:Q9NV39 No chr22 46446339 46450024 46050459 46054144 +PA25524 146325 HGNC:14139 ENSG00000161992 proline rich 35 PRR35 chromosome 16 open reading frame 11 C16orf11 Yes No Ensembl:ENSG00000161992, GenAtlas:C16orf11, GeneCard:C16orf11, HGNC:HGNC:14139, HumanCyc Gene:HS14888, ModBase:Q96S23, NCBI Gene:146325, RefSeq DNA:NT_010393, RefSeq Protein:NP_660313, RefSeq RNA:NM_145270, UniProtKB:P0CG20 No chr16 609836 615529 559786 565529 +PA166123730 80164 HGNC:26172 ENSG00000183248 proline rich 36 PRR36 Yes No Ensembl:ENSG00000183248, HGNC:HGNC:26172, NCBI Gene:80164 No +PA33806 11272 HGNC:18020 ENSG00000111215 proline rich 4 PRR4 proline rich 4 (lacrimal) LPRP, PROL4 Yes No Ensembl:ENSG00000111215, GenAtlas:PRR4, GeneCard:PRR4, HGNC:HGNC:18020, HumanCyc Gene:HS03380, NCBI Gene:11272, OMIM:605359, RefSeq DNA:NT_009714, RefSeq Protein:NP_001092008, RefSeq Protein:NP_009175, RefSeq RNA:NM_001098538, RefSeq RNA:NM_007244, UCSC Genome Browser:NM_007244, UniProtKB:Q16378 No chr12 10998448 11002075 10845849 10849476 +PA144596392 55615 HGNC:31682 ENSG00000186654 proline rich 5 PRR5 proline rich 5 (renal), protein observed with Rictor-1 FLJ20185k, PP610, PROTOR1, Protor-1, Protor-1. Yes No Ensembl:ENSG00000186654, GeneCard:PRR5, HGNC:HGNC:31682, ModBase:Q96RW2, NCBI Gene:55615, OMIM:609406, RefSeq DNA:NT_011520, RefSeq Protein:NP_001017528, RefSeq Protein:NP_001017529, RefSeq Protein:NP_001017530, RefSeq Protein:NP_001185650, RefSeq Protein:NP_056181, RefSeq Protein:NP_851850, RefSeq RNA:NM_001017528, RefSeq RNA:NM_001017529, RefSeq RNA:NM_001017530, RefSeq RNA:NM_001198721, RefSeq RNA:NM_015366, RefSeq RNA:NM_181333, UniProtKB:A8K699, UniProtKB:P85299 No chr22 45064427 45133561 44668547 44737681 +PA165378362 553158 HGNC:34512 ENSG00000248405 PRR5-ARHGAP8 readthrough PRR5-ARHGAP8 Yes No Ensembl:ENSG00000248405, HGNC:HGNC:34512, NCBI Gene:553158 No chr22 45098382 45258664 44702198 44862784 +PA165543593 79899 HGNC:25878 ENSG00000135362 proline rich 5 like PRR5L protein observed with Rictor-2 FLJ14213, PROTOR-2 Yes No Ensembl:ENSG00000135362, GeneCard:PRR5L, HGNC:HGNC:25878, HumanCyc Gene:HS13578, NCBI Gene:79899, OMIM:611728, RefSeq DNA:NT_009237, RefSeq Protein:NP_001153639, RefSeq Protein:NP_001153640, RefSeq Protein:NP_001153641, RefSeq Protein:NP_079117, RefSeq RNA:NM_001160167, RefSeq RNA:NM_001160168, RefSeq RNA:NM_001160169, RefSeq RNA:NM_024841, UniProtKB:B3KNU3, UniProtKB:Q6MZQ0 No chr11 36317725 36486754 36296175 36465204 +PA134939770 80758 HGNC:28130 ENSG00000131188 proline rich 7, synaptic PRR7 proline rich 7 (synaptic) MGC10772 Yes No Ensembl:ENSG00000131188, GeneCard:PRR7, HGNC:HGNC:28130, HumanCyc Gene:HS13377, ModBase:Q8TB68, NCBI Gene:80758, RefSeq DNA:NT_023133, RefSeq Protein:NP_001167572, RefSeq Protein:NP_001167573, RefSeq Protein:NP_085044, RefSeq RNA:NM_001174101, RefSeq RNA:NM_001174102, RefSeq RNA:NM_030567, UniProtKB:Q8TB68 No chr5 176873796 176883287 177445936 177456701 +PA142671129 574414 HGNC:32057 ENSG00000203783 proline rich 9 PRR9 Yes No Ensembl:ENSG00000203783, GeneCard:PRR9, HGNC:HGNC:32057, NCBI Gene:574414, RefSeq Protein:NP_001182500, RefSeq RNA:NM_001195571 No chr1 153190060 153191793 153217584 153219317 +PA162400175 133619 HGNC:28164 ENSG00000164244 proline rich coiled-coil 1 PRRC1 proline-rich coiled-coil 1 FLJ32875 Yes No Ensembl:ENSG00000164244, GeneCard:PRRC1, HGNC:HGNC:28164, HumanCyc Gene:HS15173, ModBase:Q96M27, NCBI Gene:133619, RefSeq DNA:NT_034772, RefSeq Protein:NP_570721, RefSeq RNA:NM_130809, UniProtKB:Q96M27 No chr5 126853301 126890781 127517609 127555089 +PA25263 7916 HGNC:13918 ENSG00000204469 proline rich coiled-coil 2A PRRC2A proline-rich coiled-coil 2A BAT2, D6S51E, G2 Yes Yes Comparative Toxicogenomics Database:7916, Ensembl:ENSG00000204469, GenAtlas:BAT2, GeneCard:BAT2, HGNC:HGNC:13918, HumanCyc Gene:HS03487, NCBI Gene:7916, OMIM:142580, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_004629, RefSeq Protein:NP_542417, RefSeq RNA:NM_004638, RefSeq RNA:NM_080686, UCSC Genome Browser:NM_004638, UniProtKB:P48634 No chr6 31588450 31605554 31620673 31637780 +PA165585468 84726 HGNC:28121 ENSG00000288701 proline rich coiled-coil 2B PRRC2B proline-rich coiled-coil 2B BAT2L, BAT2L1, KIAA0515, LQFBS-1, MGC10526 Yes No Ensembl:ENSG00000288701, GeneCard:BAT2L1, HGNC:HGNC:28121, NCBI Gene:84726, RefSeq DNA:NG_008896, RefSeq DNA:NT_035014, RefSeq Protein:NP_037450, RefSeq RNA:NM_013318, UniProtKB:Q68CR0, UniProtKB:Q9BU62 No chr9 134305477 134375584 131430090 131500191 +PA165750415 23215 HGNC:24903 ENSG00000117523 proline rich coiled-coil 2C PRRC2C proline-rich coiled-coil 2C BAT2D1, BAT2L2, KIAA1096, XTP2 Yes No Comparative Toxicogenomics Database:23215, Ensembl:ENSG00000117523, GeneCard:BAT2L2, HGNC:HGNC:24903, NCBI Gene:23215, RefSeq DNA:NT_004487, RefSeq Protein:NP_055987, RefSeq RNA:NM_015172, UniProtKB:Q9Y520 No chr1 171454652 171562650 171485496 171593511 +PA33824 5638 HGNC:9469 ENSG00000130962 proline rich and Gla domain 1 PRRG1 proline rich Gla (G-carboxyglutamic acid) 1 PRGP1 Yes No Ensembl:ENSG00000130962, GenAtlas:PRRG1, GeneCard:PRRG1, HGNC:HGNC:9469, HumanCyc Gene:HS05464, ModBase:O14668, NCBI Gene:5638, OMIM:604428, RefSeq DNA:NG_016770, RefSeq DNA:NT_079573, RefSeq Protein:NP_000941, RefSeq Protein:NP_001135867, RefSeq Protein:NP_001166957, RefSeq Protein:NP_001166960, RefSeq Protein:NP_001166961, RefSeq RNA:NM_000950, RefSeq RNA:NM_001142395, RefSeq RNA:NM_001173486, RefSeq RNA:NM_001173489, RefSeq RNA:NM_001173490, UCSC Genome Browser:NM_000950, UniProtKB:C9JXL7, UniProtKB:O14668, UniProtKB:Q8NEK6 No chrX 37208528 37316548 37349275 37457295 +PA33825 5639 HGNC:9470 ENSG00000126460 proline rich and Gla domain 2 PRRG2 proline rich Gla (G-carboxyglutamic acid) 2 PRGP2 Yes No Ensembl:ENSG00000126460, GenAtlas:PRRG2, GeneCard:PRRG2, HGNC:HGNC:9470, HumanCyc Gene:HS05021, ModBase:O14669, NCBI Gene:5639, OMIM:604429, RefSeq DNA:NT_011109, RefSeq Protein:NP_000942, RefSeq RNA:NM_000951, UCSC Genome Browser:NM_000951, UniProtKB:O14669 No chr19 50084574 50094272 49580617 49591008 +PA134963933 79057 HGNC:30798 ENSG00000130032 proline rich and Gla domain 3 PRRG3 proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) TMG3 Yes No Comparative Toxicogenomics Database:79057, Ensembl:ENSG00000130032, GeneCard:PRRG3, HGNC:HGNC:30798, HumanCyc Gene:HS05331, ModBase:Q9BZD7, NCBI Gene:79057, OMIM:300685, RefSeq DNA:NG_016589, RefSeq DNA:NT_167198, RefSeq Protein:NP_076987, RefSeq RNA:NM_024082, RefSeq RNA:NR_033262, UniProtKB:Q9BZD7 No chrX 150863730 150870063 151694606 151701591 +PA134974592 79056 HGNC:30799 ENSG00000135378 proline rich and Gla domain 4 PRRG4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) TMG4 Yes No Comparative Toxicogenomics Database:79056, Ensembl:ENSG00000135378, GeneCard:PRRG4, HGNC:HGNC:30799, HumanCyc Gene:HS05992, ModBase:Q9BZD6, NCBI Gene:79056, OMIM:611690, RefSeq DNA:NT_009237, RefSeq Protein:NP_076986, RefSeq RNA:NM_024081, UniProtKB:Q9BZD6 No chr11 32851309 32879669 32829756 32858123 +PA25932 80863 HGNC:13943 ENSG00000204314, ENSG00000206331, ENSG00000225141, ENSG00000227122, ENSG00000229071, ENSG00000229488, ENSG00000235956, ENSG00000238056 proline rich transmembrane protein 1 PRRT1 dispanin subfamily D member 1, interferon induced transmembrane protein domain containing 7, proline-rich transmembrane protein 1 C6orf31, DSPD1, IFITMD7, NG5, SynDIG4 Yes No Comparative Toxicogenomics Database:80863, Ensembl:ENSG00000204314, Ensembl:ENSG00000206331, Ensembl:ENSG00000225141, Ensembl:ENSG00000227122, Ensembl:ENSG00000229071, Ensembl:ENSG00000229488, Ensembl:ENSG00000235956, Ensembl:ENSG00000238056, GenAtlas:PRRT1, GeneCard:PRRT1, HGNC:HGNC:13943, ModBase:Q99946, NCBI Gene:80863, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_085154, RefSeq RNA:NM_030651, UCSC Genome Browser:NM_030651, UniProtKB:Q99946 No chr6 32116140 32119720 32148363 32151943 +PA166181610 642515 HGNC:53642 ENSG00000283526 proline rich transmembrane protein 1B PRRT1B dispanin subfamily D member 2 DSPD2, IFITMD8 Yes No Ensembl:ENSG00000283526, HGNC:HGNC:53642, NCBI Gene:642515 No 0 0 0 0 +PA142671132 112476 HGNC:30500 ENSG00000167371 proline rich transmembrane protein 2 PRRT2 Episodic kinesigenic dyskinesia 1, Paroxysmal kinesigenic dyskinesia, dispanin subfamily B member 3, interferon induced transmembrane protein domain containing 1, proline-rich transmembrane protein 2 DKFZp547J199, DSPB3, DYT10, EKD1, FICCA, FLJ25513, ICCA, IFITMD1, PKC Yes No Ensembl:ENSG00000167371, GeneCard:PRRT2, HGNC:HGNC:30500, HumanCyc Gene:HS15545, ModBase:Q7Z6L0, NCBI Gene:112476, RefSeq DNA:NT_010393, RefSeq Protein:NP_660282, RefSeq RNA:NM_145239, UniProtKB:Q7Z6L0 No chr16 29823409 29827202 29811856 29815920 +PA142671133 285368 HGNC:26591 ENSG00000163704 proline rich transmembrane protein 3 PRRT3 proline-rich transmembrane protein 3 FLJ33674 Yes No Ensembl:ENSG00000163704, GeneCard:PRRT3, HGNC:HGNC:26591, ModBase:Q5FWE3, NCBI Gene:285368, RefSeq DNA:NT_022517, RefSeq Protein:NP_997234, RefSeq RNA:NM_207351, UniProtKB:Q5FWE3 No chr3 9987226 9994078 9945542 9952415 +PA165618245 401399 HGNC:37280 ENSG00000224940 proline rich transmembrane protein 4 PRRT4 proline-rich transmembrane protein 4 Yes No Ensembl:ENSG00000224940, GeneCard:PRRT4, HGNC:HGNC:37280, NCBI Gene:401399, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001108198, RefSeq Protein:NP_001167635, RefSeq RNA:NM_001114726, RefSeq RNA:NM_001174164, UniProtKB:C9JH25 No chr7 127990379 128001739 128350325 128362067 +PA33466 5396 HGNC:9142 ENSG00000116132 paired related homeobox 1 PRRX1 PHOX1, PMX1 Yes No Comparative Toxicogenomics Database:5396, Ensembl:ENSG00000116132, GenAtlas:PRRX1, GeneCard:PRRX1, HGNC:HGNC:9142, HumanCyc Gene:HS03984, ModBase:P54821, NCBI Gene:5396, OMIM:167420, RefSeq DNA:NT_004487, RefSeq Protein:NP_008833, RefSeq Protein:NP_073207, RefSeq RNA:NM_006902, RefSeq RNA:NM_022716, UCSC Genome Browser:NM_006902, UniProtKB:P54821 No chr1 170633313 170708541 170662728 170739400 +PA134871679 51450 HGNC:21338 ENSG00000167157 paired related homeobox 2 PRRX2 PMX2, PRX2 Yes No Comparative Toxicogenomics Database:51450, Ensembl:ENSG00000167157, GeneCard:PRRX2, HGNC:HGNC:21338, HumanCyc Gene:HS09518, ModBase:Q99811, NCBI Gene:51450, OMIM:604675, RefSeq DNA:NT_008470, RefSeq Protein:NP_057391, RefSeq RNA:NM_016307, UniProtKB:Q99811 No chr9 132427920 132484953 129665641 129722674 +PA33828 5644 HGNC:9475 ENSG00000204983 serine protease 1 PRSS1 protease, serine, 1 (trypsin 1) TRY1 Yes No Comparative Toxicogenomics Database:5644, Ensembl:ENSG00000204983, GenAtlas:PRSS1, GeneCard:PRSS1, HGNC:HGNC:9475, ModBase:Q9HAN5, NCBI Gene:5644, OMIM:167800, OMIM:276000, RefSeq DNA:NG_001333, RefSeq DNA:NG_008307, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_002760, RefSeq RNA:NM_002769, UCSC Genome Browser:NM_002769, UniProtKB:P07477 No chr7 142457319 142460927 142740235 142753076 +PA33830 8492 HGNC:9477 ENSG00000164099 serine protease 12 PRSS12 """brain-specific serine protease 3"", ""mental retardation, autosomal recessive 1"", ""motopsin"", ""neurotrypsin"", ""protease, serine, 12 (neurotrypsin, motopsin)""" BSSP-3, MRT1 Yes No Comparative Toxicogenomics Database:8492, Ensembl:ENSG00000164099, GenAtlas:PRSS12, GeneCard:PRSS12, HGNC:HGNC:9477, HumanCyc Gene:HS09010, ModBase:P56730, NCBI Gene:8492, OMIM:249500, OMIM:606709, RefSeq DNA:NG_023350, RefSeq DNA:NT_016354, RefSeq Protein:NP_003610, RefSeq RNA:NM_003619, UCSC Genome Browser:NM_003619, UniProtKB:P56730, UniProtKB:Q96I80 No chr4 119201193 119274053 118280038 118353042 +PA33832 10279 HGNC:9480 ENSG00000112812 serine protease 16 PRSS16 """protease, serine, 16 (thymus)"", ""thymus-specific serine protease""" TSSP Yes No Ensembl:ENSG00000112812, GenAtlas:PRSS16, GeneCard:PRSS16, HGNC:HGNC:9480, HumanCyc Gene:HS03623, ModBase:Q9NQE7, NCBI Gene:10279, OMIM:607169, RefSeq DNA:NT_007592, RefSeq Protein:NP_005856, RefSeq RNA:NM_005865, UCSC Genome Browser:NM_005865, UniProtKB:Q9NQE7 No chr6 27215480 27224399 27247701 27256620 +PA33833 5645 HGNC:9483 ENSG00000275896 serine protease 2 PRSS2 """protease, serine, 2 (trypsin 2)"", ""trypsin 2""" TRY2 Yes No Comparative Toxicogenomics Database:5645, Ensembl:ENSG00000275896, GenAtlas:PRSS2, GeneCard:PRSS2, HGNC:HGNC:9483, HumanCyc Gene:HS10703, ModBase:P07478, NCBI Gene:5645, OMIM:601564, RefSeq DNA:NG_001333, RefSeq DNA:NG_008322, RefSeq DNA:NT_079596, RefSeq Protein:NP_002761, RefSeq RNA:NM_002770, UCSC Genome Browser:NM_002770, UniProtKB:P07478, UniProtKB:Q5NV56 No chr7 974016 977604 142770943 142774564 +PA33834 10942 HGNC:9485 ENSG00000007038 serine protease 21 PRSS21 protease, serine, 21 (testisin) ESP-1, TEST1, TESTISIN Yes No Ensembl:ENSG00000007038, GenAtlas:PRSS21, GeneCard:PRSS21, HGNC:HGNC:9485, HumanCyc Gene:HS00201, ModBase:Q9Y6M0, NCBI Gene:10942, OMIM:608159, RefSeq DNA:NT_010393, RefSeq Protein:NP_006790, RefSeq Protein:NP_659205, RefSeq Protein:NP_659206, RefSeq RNA:NM_006799, RefSeq RNA:NM_144956, RefSeq RNA:NM_144957, UCSC Genome Browser:NM_006799, UniProtKB:Q9Y6M0 No chr16 2867164 2871723 2817163 2821722 +PA33835 64063 HGNC:14368 ENSG00000005001 serine protease 22 PRSS22 """brain-specific serine protease 4"", ""protease, serine, 22""" BSSP-4, SP001LA, hBSSP-4 Yes No Comparative Toxicogenomics Database:64063, Ensembl:ENSG00000005001, GenAtlas:PRSS22, GeneCard:PRSS22, HGNC:HGNC:14368, HumanCyc Gene:HS00122, ModBase:Q9GZN4, NCBI Gene:64063, OMIM:609343, RefSeq DNA:NT_010393, RefSeq Protein:NP_071402, RefSeq RNA:NM_022119, UCSC Genome Browser:NM_022119, UniProtKB:Q9GZN4 No chr16 2902728 2908625 2852727 2858630 +PA134952846 11098 HGNC:14370 ENSG00000150687 serine protease 23 PRSS23 protease, serine, 23 SIG13, SPUVE Yes No Comparative Toxicogenomics Database:11098, Ensembl:ENSG00000150687, GeneCard:PRSS23, HGNC:HGNC:14370, HumanCyc Gene:HS07683, ModBase:O95084, NCBI Gene:11098, RefSeq DNA:NT_167190, RefSeq Protein:NP_009104, RefSeq RNA:NM_007173, UniProtKB:O95084 No chr11 86511288 86522275 86791059 86952910 +PA33837 83886 HGNC:15475 ENSG00000172382 serine protease 27 PRSS27 protease, serine 27 CAPH2, MPN, marapsin, pancreasin Yes No Comparative Toxicogenomics Database:83886, Ensembl:ENSG00000172382, GenAtlas:PRSS27, GeneCard:PRSS27, HGNC:HGNC:15475, HumanCyc Gene:HS10510, ModBase:Q9BQR3, NCBI Gene:83886, OMIM:608018, RefSeq DNA:NT_010393, RefSeq Protein:NP_114154, RefSeq RNA:NM_031948, UniProtKB:Q9BQR3 No chr16 2762423 2770552 2712418 2720551 +PA134869388 123787 HGNC:17542 ENSG00000196364 protease, serine, 29, pseudogene PRSS29P Isp2 Yes No Ensembl:ENSG00000196364, GeneCard:PRSS29P, HGNC:HGNC:17542, NCBI Gene:123787, RefSeq DNA:NG_002329, RefSeq DNA:NT_010393 No chr16 1311004 1314005 1261003 1264004 +PA33838 5646 HGNC:9486 ENSG00000010438 serine protease 3 PRSS3 """mesotrypsin"", ""protease, serine, 3""" PRSS4, TRY3, TRY4 Yes No Comparative Toxicogenomics Database:5646, Ensembl:ENSG00000010438, GenAtlas:PRSS3, GeneCard:PRSS3, HGNC:HGNC:9486, HumanCyc Gene:HS00287, ModBase:P35030, NCBI Gene:5646, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413, RefSeq Protein:NP_001184026, RefSeq Protein:NP_001184027, RefSeq Protein:NP_002762, RefSeq Protein:NP_031369, RefSeq RNA:NM_001197097, RefSeq RNA:NM_001197098, RefSeq RNA:NM_002771, RefSeq RNA:NM_007343, UCSC Genome Browser:NM_002771, UniProtKB:A8CED1, UniProtKB:P35030, UniProtKB:Q6ISJ4 No chr9 33750464 33799229 33750466 33799231 +PA134987813 260429 HGNC:30405 ENSG00000103355 serine protease 33 PRSS33 protease, serine, 33 EOS Yes No Ensembl:ENSG00000103355, GeneCard:PRSS33, HGNC:HGNC:30405, HumanCyc Gene:HS02493, ModBase:Q8NF86, NCBI Gene:260429, RefSeq DNA:NT_010393, RefSeq Protein:NP_690851, RefSeq RNA:NM_152891, UniProtKB:Q8NF86 No chr16 2833954 2837943 2783953 2787759 +PA134974089 167681 HGNC:21387 ENSG00000146250 serine protease 35 PRSS35 protease, serine, 35 C6orf158, MGC46520, dJ223E3.1 Yes No Comparative Toxicogenomics Database:167681, Ensembl:ENSG00000146250, GeneCard:PRSS35, HGNC:HGNC:21387, HumanCyc Gene:HS07337, ModBase:Q8N3Z0, NCBI Gene:167681, RefSeq DNA:NT_007299, RefSeq Protein:NP_001163894, RefSeq Protein:NP_699193, RefSeq RNA:NM_001170423, RefSeq RNA:NM_153362, UniProtKB:Q8N3Z0 No chr6 84222194 84235423 83512475 83525704 +PA142671123 146547 HGNC:26906 ENSG00000178226 serine protease 36 PRSS36 """polyserase 2"", ""protease, serine, 36""" FLJ90661 Yes No Ensembl:ENSG00000178226, GeneCard:PRSS36, HGNC:HGNC:26906, HumanCyc Gene:HS11266, ModBase:Q5K4E3, NCBI Gene:146547, OMIM:610560, RefSeq DNA:NT_010393, RefSeq Protein:NP_775773, RefSeq RNA:NM_173502, UniProtKB:Q5K4E3 No chr16 31150244 31161415 31138926 31150094 +PA165618277 136242 HGNC:29211 ENSG00000165076 serine protease 37 PRSS37 protease, serine, 37 Yes No Ensembl:ENSG00000165076, GeneCard:PRSS37, HGNC:HGNC:29211, NCBI Gene:136242, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001008271, RefSeq Protein:NP_001165422, RefSeq RNA:NM_001008270, RefSeq RNA:NM_001171951, UniProtKB:A4D1T9, UniProtKB:B7ZMK3 No chr7 141536078 141541332 141836278 141849725 +PA165752268 339501 HGNC:29625 ENSG00000185888 serine protease 38 PRSS38 """marapsin 2"", ""protease, serine, 38""" MPN2 Yes No Ensembl:ENSG00000185888, GeneCard:PRSS38, HGNC:HGNC:29625, NCBI Gene:339501, RefSeq DNA:NT_167186, RefSeq Protein:NP_898885, RefSeq RNA:NM_183062, UniProtKB:A1L453 No chr1 228003418 228034171 227815708 227846470 +PA165450634 360226 HGNC:30715 ENSG00000215148 serine protease 41 PRSS41 """protease, serine, 41"", ""testis serine protease 1""" TESSP1 Yes No Ensembl:ENSG00000215148, GeneCard:PRSS41, HGNC:HGNC:30715, NCBI Gene:360226, RefSeq DNA:NT_010393, RefSeq Protein:NP_001128558, RefSeq RNA:NM_001135086, UniProtKB:Q7RTY9 No chr16 2848486 2855133 2789525 2805287 +PA165664477 345062 HGNC:24635 ENSG00000189099 serine protease 48 PRSS48 protease, serine, 48 ESSPL Yes No Ensembl:ENSG00000189099, GeneCard:PRSS48, HGNC:HGNC:24635, NCBI Gene:345062, RefSeq DNA:NT_016354, RefSeq Protein:NP_899231, RefSeq RNA:NM_183375, UniProtKB:Q7RTY5 No chr4 152198152 152212719 151276482 151291856 +PA165698443 29122 HGNC:17910 ENSG00000283706 serine protease 50 PRSS50 """cancer/testis antigen 20"", ""protease, serine, 50"", ""testes specific protease 50""" CT20, TSP50 Yes No Ensembl:ENSG00000283706, GeneCard:PRSS50, HGNC:HGNC:17910, HumanCyc Gene:HS11667, NCBI Gene:29122, OMIM:607950, RefSeq DNA:NT_022517, RefSeq Protein:NP_037402, RefSeq RNA:NM_013270, UniProtKB:Q9UI38 No chr3 46753606 46759373 46712116 46717883 +PA166181611 346702 HGNC:37321 ENSG00000253649 serine protease 51 PRSS51 Yes No Ensembl:ENSG00000253649, HGNC:HGNC:37321, NCBI Gene:346702 No 0 0 0 0 +PA165450635 339105 HGNC:34407 ENSG00000151006 serine protease 53 PRSS53 """polyserase 3"", ""protease, serine, 53""" POL3S Yes Yes Ensembl:ENSG00000151006, GeneCard:PRSS53, HGNC:HGNC:34407, NCBI Gene:339105, OMIM:610561, RefSeq DNA:NT_010393, RefSeq Protein:NP_001034592, RefSeq RNA:NM_001039503, UniProtKB:Q2L4Q9 No chr16 31094745 31100289 31083424 31090035 +PA165450675 221191 HGNC:26336 ENSG00000103023 serine protease 54 PRSS54 """cancer/testis antigen 67"", ""protease, serine, 54""" CT67, FLJ25339, KLKBL4 Yes No Ensembl:ENSG00000103023, GeneCard:PRSS54, HGNC:HGNC:26336, NCBI Gene:221191, RefSeq DNA:NT_010498, RefSeq Protein:NP_001073961, RefSeq RNA:NM_001080492, UniProtKB:Q6PEW0 No chr16 58313901 58328951 58279997 58295047 +PA165585933 203074 HGNC:30824 ENSG00000184647 serine protease 55 PRSS55 protease, serine, 55 CT153, T-SP1, UNQ9391 Yes No Ensembl:ENSG00000184647, GeneCard:PRSS55, HGNC:HGNC:30824, NCBI Gene:203074, RefSeq DNA:NT_077531, RefSeq Protein:NP_001183949, RefSeq Protein:NP_940866, RefSeq RNA:NM_001197020, RefSeq RNA:NM_198464, UniProtKB:Q6UWB4 No chr8 10383030 10411676 10525331 10554166 +PA166049040 646960 HGNC:39433 ENSG00000237412 serine protease 56 PRSS56 protease, serine, 56 Yes No Ensembl:ENSG00000237412, HGNC:HGNC:39433, NCBI Gene:646960 No chr2 233385173 233390426 232520463 232525716 +PA166049004 400668 HGNC:31397 ENSG00000185198 serine protease 57 PRSS57 protease, serine, 57 PRSSL1, UNQ782 Yes No Ensembl:ENSG00000185198, HGNC:HGNC:31397, ModBase:Q6UWY2, NCBI Gene:400668, RefSeq DNA:NT_011255, RefSeq Protein:NP_999875, RefSeq RNA:NM_214710, UniProtKB:Q6UWY2 No chr19 685546 695462 685521 695461 +PA166049038 136541 HGNC:39125 ENSG00000258223 serine protease 58 PRSS58 """protease, serine, 58"", ""trypsin X3""" TRYX3 Yes No Ensembl:ENSG00000258223, HGNC:HGNC:39125, NCBI Gene:136541 No chr7 141951958 141957878 142252138 142258058 +PA33840 5652 HGNC:9491 ENSG00000052344 serine protease 8 PRSS8 """channel-activating serine protease 1"", ""prostasin"", ""protease, serine, 8""" CAP1 Yes No Comparative Toxicogenomics Database:5652, Ensembl:ENSG00000052344, GenAtlas:PRSS8, GeneCard:PRSS8, HGNC:HGNC:9491, HumanCyc Gene:HS00649, ModBase:Q16651, NCBI Gene:5652, OMIM:600823, RefSeq DNA:NT_010393, RefSeq Protein:NP_002764, RefSeq RNA:NM_002773, UCSC Genome Browser:NM_002773, UniProtKB:Q16651 No chr16 31142754 31147151 31131433 31135762 +PA134888009 56952 HGNC:23333 ENSG00000099256 phosphoribosyl transferase domain containing 1 PRTFDC1 HHGP Yes No Comparative Toxicogenomics Database:56952, Ensembl:ENSG00000099256, GeneCard:PRTFDC1, HGNC:HGNC:23333, HumanCyc Gene:HS01884, ModBase:Q9NRG1, NCBI Gene:56952, OMIM:610751, RefSeq DNA:NT_008705, RefSeq Protein:NP_064585, RefSeq RNA:NM_020200, UniProtKB:Q9NRG1 No chr10 25137536 25242680 24848607 24952644 +PA142671124 283659 HGNC:26373 ENSG00000166450 protogenin PRTG immunoglobulin superfamily, DCC subclass, member 5 FLJ25756, IGDCC5 Yes No Comparative Toxicogenomics Database:283659, Ensembl:ENSG00000166450, GeneCard:PRTG, HGNC:HGNC:26373, HumanCyc Gene:HS15446, ModBase:Q2VWP7, NCBI Gene:283659, OMIM:613261, RefSeq DNA:NT_010194, RefSeq Protein:NP_776175, RefSeq RNA:NM_173814, UniProtKB:Q2VWP7 No chr15 55903738 56035847 55611540 55743649 +PA33842 5657 HGNC:9495 ENSG00000196415 proteinase 3 PRTN3 """Wegener granulomatosis autoantigen"", ""myeloblastin"", ""serine proteinase, neutrophil""" ACPA, AGP7, C-ANCA, MBT, P29, PR-3 Yes No Comparative Toxicogenomics Database:5657, Ensembl:ENSG00000196415, GenAtlas:PRTN3, GeneCard:PRTN3, HGNC:HGNC:9495, HumanCyc Gene:HS10473, ModBase:P24158, NCBI Gene:5657, OMIM:177020, RefSeq DNA:NT_011255, RefSeq Protein:NP_002768, RefSeq RNA:NM_002777, UCSC Genome Browser:NM_002777, UniProtKB:P24158 No chr19 840985 848175 840965 848175 +PA134939749 58497 HGNC:13420 ENSG00000143363 prune exopolyphosphatase 1 PRUNE1 prune exopolyphosphatase DRES-17, H-PRUNE, HTCD37, PRUNE Yes No Comparative Toxicogenomics Database:58497, Ensembl:ENSG00000143363, GeneCard:PRUNE, HGNC:HGNC:13420, HumanCyc Gene:HS07034, ModBase:Q9UIV0, NCBI Gene:58497, RefSeq DNA:NT_004487, RefSeq Protein:NP_067045, RefSeq RNA:NM_021222, UniProtKB:Q86TP1 No chr1 150980867 151008189 151008391 151035713 +PA162400198 158471 HGNC:25209 ENSG00000106772 prune homolog 2 with BCH domain PRUNE2 olfaxin, prune homolog 2 (Drosophila) A214N16.3, BMCC1, BNIPXL, C9orf65, KIAA0367, bA214N16.3 Yes No Comparative Toxicogenomics Database:158471, Ensembl:ENSG00000106772, GeneCard:PRUNE2, HGNC:HGNC:25209, NCBI Gene:158471, OMIM:610691, RefSeq DNA:NT_008470, RefSeq DNA:NT_023935, RefSeq Protein:NP_056040, RefSeq Protein:NP_620173, RefSeq RNA:NM_015225, RefSeq RNA:NM_138818, UniProtKB:B3KYC4, UniProtKB:Q5JUB6, UniProtKB:Q8WUY3 No chr9 79226292 79521136 76611376 76906220 +PA33843 57716 HGNC:13797 ENSG00000105227 periaxin PRX KIAA1620 Yes No Comparative Toxicogenomics Database:57716, Ensembl:ENSG00000105227, GenAtlas:PRX, GeneCard:PRX, HGNC:HGNC:13797, HumanCyc Gene:HS02696, ModBase:Q9BXM0, NCBI Gene:57716, OMIM:145900, OMIM:605725, RefSeq DNA:NG_007979, RefSeq DNA:NT_011109, RefSeq Protein:NP_066007, RefSeq Protein:NP_870998, RefSeq RNA:NM_020956, RefSeq RNA:NM_181882, UCSC Genome Browser:NM_020956, UniProtKB:Q9BXM0 No chr19 40899671 40919279 40393762 40414718 +PA134969403 84293 HGNC:28651 ENSG00000122378 peroxiredoxin like 2A PRXL2A """Adiporedoxin"", ""family with sequence similarity 213, member A"", ""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes""" Adrx, C10orf58, FAM213A, MGC4248, PAMM Yes No Ensembl:ENSG00000122378, GeneCard:C10orf58, HGNC:HGNC:28651, HumanCyc Gene:HS13048, ModBase:Q9BRX8, NCBI Gene:84293, RefSeq DNA:NT_030059, RefSeq Protein:NP_115709, RefSeq RNA:NM_032333, RefSeq RNA:NR_024572, UniProtKB:Q9BRX8 No chr10 82167585 82192753 80407829 80437115 +PA142672477 127281 HGNC:28390 ENSG00000157870 peroxiredoxin like 2B PRXL2B """family with sequence similarity 213, member B"", ""prostamide/prostaglandin F synthase"", ""thioredoxin-type PGF synthase""" C1orf93, FAM213B, MGC26818 Yes No Ensembl:ENSG00000157870, GeneCard:C1orf93, HGNC:HGNC:28390, HumanCyc Gene:HS14681, ModBase:Q8TBF2, NCBI Gene:127281, RefSeq DNA:NT_004350, RefSeq Protein:NP_001182665, RefSeq Protein:NP_001182666, RefSeq Protein:NP_001182667, RefSeq Protein:NP_001182669, RefSeq Protein:NP_001182670, RefSeq Protein:NP_689584, RefSeq RNA:NM_001195736, RefSeq RNA:NM_001195737, RefSeq RNA:NM_001195738, RefSeq RNA:NM_001195740, RefSeq RNA:NM_001195741, RefSeq RNA:NM_152371, RefSeq RNA:NR_036637, RefSeq RNA:NR_036638, UniProtKB:Q8TBF2 No chr1 2517899 2522908 2586460 2591469 +PA38190 195827 HGNC:16881 ENSG00000158122 peroxiredoxin like 2C PRXL2C AhpC/TSA antioxidant enzyme domain containing 1 AAED1, C9orf21 Yes No Ensembl:ENSG00000158122, GenAtlas:C9orf21, GeneCard:C9orf21, HGNC:HGNC:16881, ModBase:Q7RTV5, NCBI Gene:195827, RefSeq DNA:NT_008470, RefSeq Protein:NP_714542, RefSeq RNA:NM_153698, UniProtKB:Q7RTV5 No chr9 99403109 99417603 96641251 96655331 +PA33844 9081 HGNC:14024 ENSG00000169763, ENSG00000169789, ENSG00000169807, ENSG00000172283 PTPN13 like Y-linked PRY PTPN13-like, Y-linked PRY1, PTPN13LY Yes No Ensembl:ENSG00000169763, Ensembl:ENSG00000169789, Ensembl:ENSG00000169807, Ensembl:ENSG00000172283, GenAtlas:PRY, GeneCard:PRY, HGNC:HGNC:14024, HumanCyc Gene:HS15815, HumanCyc Gene:HS15816, HumanCyc Gene:HS16067, NCBI Gene:9081, OMIM:400019, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_004667, RefSeq RNA:NM_004676, UCSC Genome Browser:NM_004676, UniProtKB:O14603 No chrY 24636544 24660784 22488013 22516303 +PA134964356 442862 HGNC:21504 ENSG00000169807 PTPN13 like Y-linked 2 PRY2 PTPN13-like, Y-linked 2 PTPN13LY2 Yes No Ensembl:ENSG00000169807, GeneCard:PRY2, HGNC:HGNC:21504, NCBI Gene:442862, OMIM:400041, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_001002758, RefSeq RNA:NM_001002758 No chrY 24217903 24242154 22071756 22096007 +PA165791571 HGNC:38785 PTPN13-like, Y-linked pseudogene 5 PRYP5 Yes No HGNC:HGNC:38785 No +PA165791572 HGNC:38786 PTPN13-like, Y-linked pseudogene 6 PRYP6 Yes No HGNC:HGNC:38786 No +PA33845 5660 HGNC:9498 ENSG00000197746 prosaposin PSAP precursor of saposins, saposin-A, saposin-B, saposin-C, saposin-D, variant Gaucher disease and variant metachromatic leukodystrophy GLBA, SAP1, SAP2 Yes No Comparative Toxicogenomics Database:5660, Ensembl:ENSG00000197746, GenAtlas:PSAP, GeneCard:PSAP, HGNC:HGNC:9498, ModBase:Q6IBQ6, NCBI Gene:5660, OMIM:176801, OMIM:249900, OMIM:610539, OMIM:611721, OMIM:611722, RefSeq DNA:NG_009301, RefSeq DNA:NT_030059, RefSeq Protein:NP_001035930, RefSeq Protein:NP_001035931, RefSeq Protein:NP_002769, RefSeq RNA:NM_001042465, RefSeq RNA:NM_001042466, RefSeq RNA:NM_002778, UCSC Genome Browser:NM_002778, UniProtKB:P07602, UniProtKB:Q53Y86 No chr10 73576055 73611082 71816283 71851375 +PA162400215 768239 HGNC:33131 ENSG00000178597 prosaposin like 1 PSAPL1 prosaposin like 1 (gene/pseudogene), prosaposin-like 1 (gene/pseudogene) Yes No Ensembl:ENSG00000178597, GeneCard:PSAPL1, HGNC:HGNC:33131, ModBase:Q6NUJ1, NCBI Gene:768239, RefSeq DNA:NT_006051, RefSeq Protein:NP_001078851, RefSeq RNA:NM_001085382, UniProtKB:Q6NUJ1 No chr4 7432021 7436700 7430294 7434973 +PA128395782 29968 HGNC:19129 ENSG00000135069 phosphoserine aminotransferase 1 PSAT1 phosphoserine transaminase PSA, PSAT Yes No Comparative Toxicogenomics Database:29968, Ensembl:ENSG00000135069, GeneCard:PSAT1, HGNC:HGNC:19129, HumanCyc Gene:HS05946, ModBase:Q9Y617, NCBI Gene:29968, OMIM:610936, OMIM:610992, RefSeq DNA:NG_012165, RefSeq DNA:NT_008470, RefSeq Protein:NP_066977, RefSeq Protein:NP_478059, RefSeq RNA:NM_021154, RefSeq RNA:NM_058179, UCSC Genome Browser:NM_021154, UniProtKB:Q9Y617 No chr9 80911991 80945009 78297075 78330093 +PA142672325 137133 HGNC:15785 ENSG00000253810 phosphoserine aminotransferase 1 pseudogene 1 PSAT1P1 similar to phosphoserine aminotransferase isoform 1 Yes No Ensembl:ENSG00000253810, HGNC:HGNC:15785, NCBI Gene:137133, RefSeq DNA:NG_009632, RefSeq DNA:NT_008183, RefSeq RNA:XR_016569, RefSeq RNA:XR_018119, RefSeq RNA:XR_040462 No chr8 50651756 50653966 49739196 49741406 +PA33847 8000 HGNC:9500 ENSG00000167653 prostate stem cell antigen PSCA lncPSCA Yes No Comparative Toxicogenomics Database:8000, Ensembl:ENSG00000167653, GenAtlas:PSCA, GeneCard:PSCA, HGNC:HGNC:9500, HumanCyc Gene:HS09599, ModBase:O43653, NCBI Gene:8000, OMIM:602470, RefSeq DNA:NG_011722, RefSeq DNA:NT_008046, RefSeq Protein:NP_005663, RefSeq RNA:NM_005672, RefSeq RNA:NR_033343, UCSC Genome Browser:NM_005672 No chr8 143751726 143764145 142670308 142682727 +PA33854 5662 HGNC:9507 ENSG00000059915 pleckstrin and Sec7 domain containing PSD exchange factor for ARF6 A EFA6, EFA6A, KIAA2011, PSD1, TYL Yes No Comparative Toxicogenomics Database:5662, Ensembl:ENSG00000059915, GenAtlas:PSD, GeneCard:PSD, HGNC:HGNC:9507, HumanCyc Gene:HS00737, ModBase:A5PKW4, NCBI Gene:5662, OMIM:602327, RefSeq DNA:NT_030059, RefSeq Protein:NP_002770, RefSeq RNA:NM_002779, UCSC Genome Browser:NM_002779, UniProtKB:A5PKW4 No chr10 104162374 104179691 102402617 102420164 +PA134885177 84249 HGNC:19092 ENSG00000146005 pleckstrin and Sec7 domain containing 2 PSD2 DKFZp761B0514, EFA6C Yes No Ensembl:ENSG00000146005, GeneCard:PSD2, HGNC:HGNC:19092, HumanCyc Gene:HS14126, NCBI Gene:84249, RefSeq DNA:NT_029289, RefSeq Protein:NP_115665, RefSeq RNA:NM_032289, UniProtKB:Q9BQI7 No chr5 139175406 139224051 139683980 139844466 +PA128394629 23362 HGNC:19093 ENSG00000156011 pleckstrin and Sec7 domain containing 3 PSD3 DKFZp761K1423, EFA6D, EFA6R, HCA67, KIAA0942 Yes No Comparative Toxicogenomics Database:23362, Ensembl:ENSG00000156011, GeneCard:PSD3, HGNC:HGNC:19093, HumanCyc Gene:HS14596, NCBI Gene:23362, RefSeq DNA:NT_167187, RefSeq Protein:NP_056125, RefSeq Protein:NP_996792, RefSeq RNA:NM_015310, RefSeq RNA:NM_206909, UCSC Genome Browser:NM_015310, UniProtKB:B3KRC4, UniProtKB:Q9NYI0 No chr8 18384813 18871196 18527303 19086909 +PA134875981 23550 HGNC:19096 ENSG00000125637 pleckstrin and Sec7 domain containing 4 PSD4 EFA6B, TIC Yes No Ensembl:ENSG00000125637, GeneCard:PSD4, HGNC:HGNC:19096, HumanCyc Gene:HS13171, ModBase:Q8NDX1, NCBI Gene:23550, RefSeq DNA:NT_022135, RefSeq Protein:NP_036587, RefSeq RNA:NM_012455, UniProtKB:Q8NDX1 No chr2 113914976 113960677 113157399 113203229 +PA33855 5663 HGNC:9508 ENSG00000080815 presenilin 1 PSEN1 familial Alzheimer Disease AD3, FAD, PS-1, PS1, PSNL1, S182 Yes No Comparative Toxicogenomics Database:5663, Ensembl:ENSG00000080815, GenAtlas:PSEN1, GeneCard:PSEN1, HGNC:HGNC:9508, HumanCyc Gene:HS01368, ModBase:P49768, NCBI Gene:5663, OMIM:104311, OMIM:172700, OMIM:600274, OMIM:607822, RefSeq DNA:NG_007386, RefSeq DNA:NT_026437, RefSeq Protein:NP_000012, RefSeq Protein:NP_015557, RefSeq RNA:NM_000021, RefSeq RNA:NM_007318, UCSC Genome Browser:NM_000021, UniProtKB:P49768 No chr14 73603143 73690399 73136435 73223691 +PA33856 5664 HGNC:9509 ENSG00000143801 presenilin 2 PSEN2 Alzheimer disease 3-like, presenilin 2 (Alzheimer disease 4) AD3L, AD4, E5-1, PS-2, PS2, STM2 Yes No Comparative Toxicogenomics Database:5664, Ensembl:ENSG00000143801, GenAtlas:PSEN2, GeneCard:PSEN2, HGNC:HGNC:9509, HumanCyc Gene:HS07108, ModBase:P49810, NCBI Gene:5664, OMIM:600759, OMIM:606889, RefSeq DNA:NG_007381, RefSeq DNA:NT_167186, RefSeq Protein:NP_000438, RefSeq Protein:NP_036618, RefSeq RNA:NM_000447, RefSeq RNA:NM_012486, UCSC Genome Browser:NM_000447, UniProtKB:A8K8D4, UniProtKB:P49810 No chr1 227057885 227083804 226870572 226903829 +PA142671122 55851 HGNC:30100 ENSG00000205155 presenilin enhancer, gamma-secretase subunit PSENEN presenilin enhancer 2 homolog (C. elegans), presenilin enhancer gamma secretase subunit PEN2 Yes No Comparative Toxicogenomics Database:55851, Ensembl:ENSG00000205155, GeneCard:PSENEN, HGNC:HGNC:30100, NCBI Gene:55851, OMIM:607632, RefSeq DNA:NT_011109, RefSeq Protein:NP_758844, RefSeq RNA:NM_172341, UniProtKB:Q9NZ42 No chr19 36236478 36238056 35745577 35747155 +PA33861 5669 HGNC:9514 ENSG00000231924 pregnancy specific beta-1-glycoprotein 1 PSG1 CD66f, PBG1, PSBG1, PSGGA Yes No Ensembl:ENSG00000231924, GenAtlas:PSG1, GeneCard:PSG1, HGNC:HGNC:9514, ModBase:Q9P1W5, NCBI Gene:5669, OMIM:176390, RefSeq DNA:NT_011109, RefSeq Protein:NP_001171754, RefSeq Protein:NP_001171755, RefSeq Protein:NP_008836, RefSeq RNA:NM_001184825, RefSeq RNA:NM_001184826, RefSeq RNA:NM_006905, UCSC Genome Browser:NM_006905, UniProtKB:P11464 No chr19 43370613 43383921 42866461 42879719 +PA33862 653492 HGNC:9515 ENSG00000248257 pregnancy specific beta-1-glycoprotein 10, pseudogene PSG10P pregnancy specific beta-1-glycoprotein 12, pregnancy specific beta-1-glycoprotein 120 Yes No Ensembl:ENSG00000248257, GenAtlas:PSG10, GeneCard:PSG10P, HGNC:HGNC:9515, ModBase:Q15235, NCBI Gene:653492, OMIM:176399, RefSeq DNA:NT_011109, RefSeq RNA:NR_026824 No chr19 43341149 43359870 42836997 42855718 +PA164742300 5680 HGNC:9516 ENSG00000243130 pregnancy specific beta-1-glycoprotein 11 PSG11 pregnancy specific beta-1-glycoprotein 13 MGC22484, PSG13, PSG14 Yes No Ensembl:ENSG00000243130, GeneCard:PSG11, HGNC:HGNC:9516, NCBI Gene:5680, OMIM:176401, RefSeq DNA:NT_011109, RefSeq Protein:NP_001106881, RefSeq Protein:NP_002776, RefSeq Protein:NP_976032, RefSeq RNA:NM_001113410, RefSeq RNA:NM_002785, RefSeq RNA:NM_203287, UniProtKB:Q9UQ72 No chr19 43511809 43530658 43007657 43026479 +PA33864 5670 HGNC:9519 ENSG00000242221 pregnancy specific beta-1-glycoprotein 2 PSG2 carcinoembryonic antigen SG8, pregnancy-specific beta-1 glycoprotein, pregnancy-specific beta-1-glycoprotein 7 CEA, PSBG2, PSG1, PSGGB Yes No Ensembl:ENSG00000242221, GenAtlas:PSG2, GeneCard:PSG2, HGNC:HGNC:9519, HumanCyc Gene:HS01096, ModBase:P11465, NCBI Gene:5670, OMIM:176391, RefSeq DNA:NT_011109, RefSeq Protein:NP_112536, RefSeq RNA:NM_031246, UCSC Genome Browser:NM_031246, UniProtKB:P11465 No chr19 43568362 43586893 43064210 43082741 +PA33865 5671 HGNC:9520 ENSG00000221826 pregnancy specific beta-1-glycoprotein 3 PSG3 Yes No Ensembl:ENSG00000221826, GenAtlas:PSG3, GeneCard:PSG3, HGNC:HGNC:9520, ModBase:Q16557, NCBI Gene:5671, OMIM:176392, RefSeq DNA:NT_011109, RefSeq Protein:NP_066296, RefSeq RNA:NM_021016, UCSC Genome Browser:NM_021016, UniProtKB:Q16557 No chr19 43225794 43244668 42721642 42740516 +PA33866 5672 HGNC:9521 ENSG00000243137 pregnancy specific beta-1-glycoprotein 4 PSG4 pregnancy-specific beta-1-glycoprotein 4 Yes No Ensembl:ENSG00000243137, GenAtlas:PSG4, GeneCard:PSG4, HGNC:HGNC:9521, ModBase:Q00888, NCBI Gene:5672, OMIM:176393, RefSeq DNA:NT_011109, RefSeq Protein:NP_002771, RefSeq Protein:NP_998798, RefSeq RNA:NM_002780, RefSeq RNA:NM_213633, UCSC Genome Browser:NM_002780, UniProtKB:B3KQL2, UniProtKB:Q00888, UniProtKB:Q6P520 No chr19 43696854 43709926 43192702 43205774 +PA33867 5673 HGNC:9522 ENSG00000204941 pregnancy specific beta-1-glycoprotein 5 PSG5 pregnancy-specific beta 1 glycoprotein, pregnancy-specific beta-1 glycoprotein FL-NCA-3, PSG Yes No Comparative Toxicogenomics Database:5673, Ensembl:ENSG00000204941, GenAtlas:PSG5, GeneCard:PSG5, HGNC:HGNC:9522, HumanCyc Gene:HS10193, ModBase:Q15238, NCBI Gene:5673, OMIM:176394, RefSeq DNA:NT_011109, RefSeq Protein:NP_001123486, RefSeq Protein:NP_002772, RefSeq RNA:NM_001130014, RefSeq RNA:NM_002781, UCSC Genome Browser:NM_002781, UniProtKB:A8MT77, UniProtKB:Q15238 No chr19 43671895 43690688 43167743 43186536 +PA33868 5675 HGNC:9523 ENSG00000170848 pregnancy specific beta-1-glycoprotein 6 PSG6 Yes No Ensembl:ENSG00000170848, GenAtlas:PSG6, GeneCard:PSG6, HGNC:HGNC:9523, ModBase:Q00889, NCBI Gene:5675, OMIM:176395, RefSeq DNA:NT_011109, RefSeq Protein:NP_001027020, RefSeq Protein:NP_002773, RefSeq RNA:NM_001031850, RefSeq RNA:NM_002782, UCSC Genome Browser:NM_002782, UniProtKB:Q00889 No chr19 43406234 43422076 42902082 42917924 +PA33869 5676 HGNC:9524 ENSG00000221878 pregnancy specific beta-1-glycoprotein 7 PSG7 pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) Yes No Ensembl:ENSG00000221878, GenAtlas:PSG7, GeneCard:PSG7, HGNC:HGNC:9524, HumanCyc Gene:HS04773, NCBI Gene:5676, OMIM:176396, RefSeq DNA:NT_011109, RefSeq Protein:NP_001193579, RefSeq Protein:NP_002774, RefSeq RNA:NM_001206650, RefSeq RNA:NM_002783, UCSC Genome Browser:NM_002783, UniProtKB:Q13046 No chr19 43428284 43441330 42924132 42937178 +PA33870 440533 HGNC:9525 ENSG00000124467 pregnancy specific beta-1-glycoprotein 8 PSG8 Yes No Comparative Toxicogenomics Database:440533, Ensembl:ENSG00000124467, GenAtlas:PSG8, GeneCard:PSG8, HGNC:HGNC:9525, ModBase:Q9UQ74, NCBI Gene:440533, OMIM:176397, RefSeq DNA:NT_011109, RefSeq Protein:NP_001123639, RefSeq Protein:NP_001123640, RefSeq Protein:NP_874366, RefSeq RNA:NM_001130167, RefSeq RNA:NM_001130168, RefSeq RNA:NM_182707, UniProtKB:A5PKV3, UniProtKB:Q9UQ74 No chr19 43256839 43269831 42752687 42765692 +PA33871 5678 HGNC:9526 ENSG00000183668 pregnancy specific beta-1-glycoprotein 9 PSG9 PSG11, PSGII Yes No Comparative Toxicogenomics Database:5678, Ensembl:ENSG00000183668, GenAtlas:PSG9, GeneCard:PSG9, HGNC:HGNC:9526, HumanCyc Gene:HS04770, ModBase:Q00887, NCBI Gene:5678, OMIM:176398, RefSeq DNA:NT_011109, RefSeq Protein:NP_002775, RefSeq RNA:NM_002784, UCSC Genome Browser:NM_002784, UniProtKB:Q00887 No chr19 43757434 43773709 43253282 43269563 +PA33872 11168 HGNC:9527 ENSG00000164985 PC4 and SRSF1 interacting protein 1 PSIP1 PC4 and SFRS1 interacting protein 1, lens epithelium-derived growth factor DFS70, LEDGF, PSIP2, p52, p75 Yes No Ensembl:ENSG00000164985, GenAtlas:PSIP1, GeneCard:PSIP1, HGNC:HGNC:9527, ModBase:O75475, NCBI Gene:11168, OMIM:603620, RefSeq DNA:NT_008413, RefSeq Protein:NP_001121689, RefSeq Protein:NP_066967, RefSeq Protein:NP_150091, RefSeq RNA:NM_001128217, RefSeq RNA:NM_021144, RefSeq RNA:NM_033222, UCSC Genome Browser:NM_021144, UCSC Genome Browser:NM_033222, UniProtKB:O75475 No chr9 15464064 15511003 15464066 15511019 +PA134943780 353329 HGNC:31132 ENSG00000234297 PC4 and SFRS1 interacting protein 1 pseudogene 1 PSIP1P1 Yes No Ensembl:ENSG00000234297, HGNC:HGNC:31132, NCBI Gene:353329, RefSeq DNA:NG_002792, RefSeq DNA:NT_008413 No chr9 15054965 15056598 15054967 15056600 +PA33874 5681 HGNC:9529 ENSG00000159792 protein serine kinase H1 PSKH1 Yes No Ensembl:ENSG00000159792, GenAtlas:PSKH1, GeneCard:PSKH1, HGNC:HGNC:9529, HumanCyc Gene:HS08422, ModBase:P11801, NCBI Gene:5681, OMIM:177015, RefSeq DNA:NT_010498, RefSeq Protein:NP_006733, RefSeq RNA:NM_006742, UCSC Genome Browser:NM_006742, UniProtKB:P11801 No chr16 67927175 67963581 67893272 67929678 +PA134961168 85481 HGNC:18997 ENSG00000147613 protein serine kinase H2 PSKH2 Yes No Ensembl:ENSG00000147613, GeneCard:PSKH2, HGNC:HGNC:18997, HumanCyc Gene:HS07457, ModBase:Q96QS6, NCBI Gene:85481, RefSeq DNA:NT_008046, RefSeq Protein:NP_149117, RefSeq RNA:NM_033126, UniProtKB:Q96QS6 No chr8 87060691 87081851 86047109 86069987 +PA33875 5682 HGNC:9530 ENSG00000129084 proteasome 20S subunit alpha 1 PSMA1 """proteasome (prosome, macropain) subunit, alpha type, 1"", ""proteasome subunit alpha 1"", ""proteasome subunit α6"", ""proteasome subunit α6""" HC2, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915, NU, PROS30 Yes No Comparative Toxicogenomics Database:5682, Ensembl:ENSG00000129084, GenAtlas:PSMA1, GeneCard:PSMA1, HGNC:HGNC:9530, HumanCyc Gene:HS05243, ModBase:P25786, NCBI Gene:5682, OMIM:602854, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137409, RefSeq Protein:NP_002777, RefSeq Protein:NP_683877, RefSeq RNA:NM_001143937, RefSeq RNA:NM_002786, RefSeq RNA:NM_148976, UCSC Genome Browser:NM_002786, UniProtKB:B4E0X6, UniProtKB:P25786 No chr11 14526422 14665180 14504876 14643634 +PA33876 5683 HGNC:9531 ENSG00000106588, ENSG00000256646 proteasome 20S subunit alpha 2 PSMA2 """proteasome (prosome, macropain) subunit, alpha type, 2"", ""proteasome subunit alpha 2""" HC3, MU, PMSA2 Yes No Comparative Toxicogenomics Database:5683, Ensembl:ENSG00000106588, Ensembl:ENSG00000256646, GenAtlas:PSMA2, GeneCard:PSMA2, HGNC:HGNC:9531, HumanCyc Gene:HS02926, ModBase:P25787, NCBI Gene:5683, OMIM:176842, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002778, RefSeq RNA:NM_002787, UCSC Genome Browser:NM_002787, UniProtKB:P25787 No chr7 42956460 42971805 42916861 42932206 +PA33877 5684 HGNC:9532 ENSG00000100567 proteasome 20S subunit alpha 3 PSMA3 """proteasome (prosome, macropain) subunit, alpha type, 3"", ""proteasome subunit alpha 3"", ""proteasome subunit α7"", ""proteasome subunit α7""" HC8 Yes No Comparative Toxicogenomics Database:5684, Ensembl:ENSG00000100567, GenAtlas:PSMA3, GeneCard:PSMA3, HGNC:HGNC:9532, HumanCyc Gene:HS02111, ModBase:P25788, NCBI Gene:5684, OMIM:176843, RefSeq DNA:NT_026437, RefSeq Protein:NP_002779, RefSeq Protein:NP_687033, RefSeq RNA:NM_002788, RefSeq RNA:NM_152132, RefSeq RNA:NR_038123, UCSC Genome Browser:NM_002788, UniProtKB:P25788 No chr14 58711523 58738727 58244805 58272009 +PA33878 5685 HGNC:9533 ENSG00000041357 proteasome 20S subunit alpha 4 PSMA4 """proteasome (prosome, macropain) subunit, alpha type, 4"", ""proteasome subunit alpha 4"", ""proteasome subunit α3"", ""proteasome subunit α3""" HC9, HsT17706 Yes Yes Comparative Toxicogenomics Database:5685, Ensembl:ENSG00000041357, GenAtlas:PSMA4, GeneCard:PSMA4, HGNC:HGNC:9533, HumanCyc Gene:HS00553, ModBase:P25789, NCBI Gene:5685, OMIM:176846, RefSeq DNA:NT_010194, RefSeq Protein:NP_001096137, RefSeq Protein:NP_001096138, RefSeq Protein:NP_002780, RefSeq RNA:NM_001102667, RefSeq RNA:NM_001102668, RefSeq RNA:NM_002789, UCSC Genome Browser:NM_002789, UniProtKB:P25789, UniProtKB:Q567Q5, UniProtKB:Q7Z474 No chr15 78832747 78841562 78540405 78549220 +PA33879 5686 HGNC:9534 ENSG00000143106 proteasome 20S subunit alpha 5 PSMA5 """proteasome (prosome, macropain) subunit, alpha type, 5"", ""proteasome subunit alpha 5""" ZETA Yes No Comparative Toxicogenomics Database:5686, Ensembl:ENSG00000143106, GenAtlas:PSMA5, GeneCard:PSMA5, HGNC:HGNC:9534, HumanCyc Gene:HS06984, ModBase:P28066, NCBI Gene:5686, OMIM:176844, RefSeq DNA:NT_032977, RefSeq Protein:NP_001186701, RefSeq Protein:NP_001186702, RefSeq Protein:NP_001186703, RefSeq Protein:NP_002781, RefSeq RNA:NM_001199772, RefSeq RNA:NM_001199773, RefSeq RNA:NM_001199774, RefSeq RNA:NM_002790, UCSC Genome Browser:NM_002790, UniProtKB:P28066 No chr1 109941653 109969108 109399031 109426486 +PA33880 5687 HGNC:9535 ENSG00000100902 proteasome 20S subunit alpha 6 PSMA6 """proteasome (prosome, macropain) subunit, alpha type, 6"", ""proteasome subunit alpha 6"", ""proteasome subunit α1"", ""proteasome subunit α1""" IOTA, MGC22756, MGC2333, MGC23846, PROS27, p27K Yes No Comparative Toxicogenomics Database:5687, Ensembl:ENSG00000100902, GenAtlas:PSMA6, GeneCard:PSMA6, HGNC:HGNC:9535, HumanCyc Gene:HS02161, NCBI Gene:5687, OMIM:602855, RefSeq DNA:NG_011703, RefSeq DNA:NT_026437, RefSeq Protein:NP_002782, RefSeq RNA:NM_002791, UCSC Genome Browser:NM_002791, UniProtKB:P60900 No chr14 35747811 35786680 35278558 35317479 +PA134917496 64596 HGNC:17460 ENSG00000215414 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 1 PSMA6P1 PSMA6-LIKE, PSMA6Y Yes No Ensembl:ENSG00000215414, HGNC:HGNC:17460, NCBI Gene:64596, RefSeq DNA:NG_002321, RefSeq DNA:NT_011875 No chrY 15398441 15399423 13286561 13287546 +PA33881 5688 HGNC:9536 ENSG00000101182 proteasome 20S subunit alpha 7 PSMA7 """proteasome (prosome, macropain) subunit, alpha type, 7"", ""proteasome subunit RC6-1"", ""proteasome subunit XAPC7"", ""proteasome subunit alpha 7"", ""proteasome subunit α4"", ""proteasome subunit α4""" C6, HSPC, RC6-1, XAPC7 Yes No Comparative Toxicogenomics Database:5688, Ensembl:ENSG00000101182, GenAtlas:PSMA7, GeneCard:PSMA7, HGNC:HGNC:9536, HumanCyc Gene:HS02209, ModBase:O14818, NCBI Gene:5688, OMIM:606607, RefSeq DNA:NT_011362, RefSeq Protein:NP_002783, RefSeq RNA:NM_002792, UCSC Genome Browser:NM_002792, UniProtKB:O14818 No chr20 60711783 60718514 62136727 62143458 +PA134969470 143471 HGNC:22985 ENSG00000154611 proteasome 20S subunit alpha 8 PSMA8 """proteasome (prosome, macropain) subunit, alpha type, 8"", ""proteasome subunit alpha 8""" MGC26605, PSMA7L Yes No Ensembl:ENSG00000154611, GeneCard:PSMA8, HGNC:HGNC:22985, HumanCyc Gene:HS07991, ModBase:Q8TAA3, NCBI Gene:143471, RefSeq DNA:NT_010966, RefSeq Protein:NP_001020267, RefSeq Protein:NP_001020268, RefSeq Protein:NP_653263, RefSeq RNA:NM_001025096, RefSeq RNA:NM_001025097, RefSeq RNA:NM_144662, UniProtKB:Q8TAA3 No chr18 23713816 23773319 26133847 26193355 +PA33882 5689 HGNC:9537 ENSG00000008018 proteasome 20S subunit beta 1 PSMB1 """proteasome (prosome, macropain) subunit, beta type, 1"", ""proteasome subunit beta 1"", ""proteasome subunit β6"", ""proteasome subunit β6""" HC5, PMSB1 Yes No Comparative Toxicogenomics Database:5689, Ensembl:ENSG00000008018, GenAtlas:PSMB1, GeneCard:PSMB1, HGNC:HGNC:9537, HumanCyc Gene:HS00227, ModBase:P20618, NCBI Gene:5689, OMIM:602017, RefSeq DNA:NT_025741, RefSeq Protein:NP_002784, RefSeq RNA:NM_002793, UCSC Genome Browser:NM_002793, UniProtKB:P20618 No chr6 170844204 170862417 170535116 170553329 +PA33883 5699 HGNC:9538 ENSG00000205220 proteasome 20S subunit beta 10 PSMB10 """proteasome (prosome, macropain) subunit, beta type, 10"", ""proteasome subunit beta 10"", ""proteasome subunit β2i"", ""proteasome subunit β2i""" LMP10, MECL1, MGC1665, beta2i Yes No Comparative Toxicogenomics Database:5699, Ensembl:ENSG00000205220, GenAtlas:PSMB10, GeneCard:PSMB10, HGNC:HGNC:9538, HumanCyc Gene:HS06798, ModBase:P40306, NCBI Gene:5699, OMIM:176847, RefSeq DNA:NT_010498, RefSeq Protein:NP_002792, RefSeq RNA:NM_002801, UCSC Genome Browser:NM_002801, UniProtKB:P40306 No chr16 67968407 67970780 67934504 67936877 +PA162400222 122706 HGNC:31963 ENSG00000222028 proteasome subunit beta 11 PSMB11 proteasome (prosome, macropain) subunit, beta type, 11 beta5t Yes No Ensembl:ENSG00000222028, GeneCard:PSMB11, HGNC:HGNC:31963, ModBase:A5LHX3, NCBI Gene:122706, OMIM:611137, RefSeq DNA:NT_026437, RefSeq Protein:NP_001093250, RefSeq RNA:NM_001099780, UniProtKB:A5LHX3, UniProtKB:B3KVC3 No chr14 23511376 23513269 23042167 23044060 +PA33884 5690 HGNC:9539 ENSG00000126067 proteasome 20S subunit beta 2 PSMB2 """proteasome (prosome, macropain) subunit, beta type, 2"", ""proteasome subunit beta 2"", ""proteasome subunit β4"", ""proteasome subunit β4""" HC7-I Yes No Comparative Toxicogenomics Database:5690, Ensembl:ENSG00000126067, GenAtlas:PSMB2, GeneCard:PSMB2, HGNC:HGNC:9539, HumanCyc Gene:HS04992, ModBase:P49721, NCBI Gene:5690, OMIM:602175, RefSeq DNA:NT_032977, RefSeq Protein:NP_001186708, RefSeq Protein:NP_001186709, RefSeq Protein:NP_002785, RefSeq RNA:NM_001199779, RefSeq RNA:NM_001199780, RefSeq RNA:NM_002794, UCSC Genome Browser:NM_002794, UniProtKB:P49721 No chr1 36040259 36107445 35599541 35641844 +PA33885 5691 HGNC:9540 ENSG00000277791 proteasome 20S subunit beta 3 PSMB3 """proteasome (prosome, macropain) subunit, beta type, 3"", ""proteasome subunit beta 3""" HC10-II, MGC4147 Yes No Comparative Toxicogenomics Database:5691, Ensembl:ENSG00000277791, GenAtlas:PSMB3, GeneCard:PSMB3, HGNC:HGNC:9540, HumanCyc Gene:HS03083, ModBase:P49720, NCBI Gene:5691, OMIM:602176, RefSeq DNA:NT_010783, RefSeq Protein:NP_002786, RefSeq RNA:NM_002795, UCSC Genome Browser:NM_002795, UniProtKB:P49720 No chr17 36908978 36920484 38752713 38764231 +PA134925224 121131 HGNC:20633 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene PSMB3P Yes Yes GeneCard:PSMB3P, HGNC:HGNC:20633, NCBI Gene:121131, RefSeq DNA:NG_001533, RefSeq DNA:NT_029419 No chr12 56048318 56049018 55654534 55655234 +PA33886 5692 HGNC:9541 ENSG00000159377 proteasome 20S subunit beta 4 PSMB4 """proteasome (prosome, macropain) subunit, beta type, 4"", ""proteasome subunit beta 4"", ""proteasome subunit β7"", ""proteasome subunit β7""" HN3, PROS26 Yes Yes Comparative Toxicogenomics Database:5692, Ensembl:ENSG00000159377, GenAtlas:PSMB4, GeneCard:PSMB4, HGNC:HGNC:9541, HumanCyc Gene:HS08395, ModBase:P28070, NCBI Gene:5692, OMIM:602177, RefSeq DNA:NT_004487, RefSeq Protein:NP_002787, RefSeq RNA:NM_002796, UCSC Genome Browser:NM_002796, UniProtKB:P28070 No chr1 151372041 151374412 151399565 151401936 +PA33887 5693 HGNC:9542 ENSG00000100804 proteasome 20S subunit beta 5 PSMB5 """proteasome (prosome, macropain) subunit, beta type, 5"", ""proteasome subunit X"", ""proteasome subunit beta 5""" MB1, X Yes No Comparative Toxicogenomics Database:5693, Ensembl:ENSG00000100804, GenAtlas:PSMB5, GeneCard:PSMB5, HGNC:HGNC:9542, HumanCyc Gene:HS02145, ModBase:P28074, NCBI Gene:5693, OMIM:600306, RefSeq DNA:NT_026437, RefSeq Protein:NP_001124197, RefSeq Protein:NP_001138404, RefSeq Protein:NP_002788, RefSeq RNA:NM_001130725, RefSeq RNA:NM_001144932, RefSeq RNA:NM_002797, UCSC Genome Browser:NM_002797, UniProtKB:P28074 No chr14 23485752 23504429 23016543 23035220 +PA33888 5694 HGNC:9543 ENSG00000142507 proteasome 20S subunit beta 6 PSMB6 """proteasome (prosome, macropain) subunit, beta type, 6"", ""proteasome subunit beta 6"", ""proteasome subunit β1"", ""proteasome subunit β1""" DELTA, Y Yes No Comparative Toxicogenomics Database:5694, Ensembl:ENSG00000142507, GenAtlas:PSMB6, GeneCard:PSMB6, HGNC:HGNC:9543, HumanCyc Gene:HS06927, ModBase:P28072, NCBI Gene:5694, OMIM:600307, RefSeq DNA:NT_010718, RefSeq Protein:NP_002789, RefSeq RNA:NM_002798, UCSC Genome Browser:NM_002798, UniProtKB:P28072, UniProtKB:Q6IAT9 No chr17 4699439 4701798 4796144 4798503 +PA33889 5695 HGNC:9544 ENSG00000136930 proteasome 20S subunit beta 7 PSMB7 """proteasome (prosome, macropain) subunit, beta type, 7"", ""proteasome subunit beta 7"", ""proteasome subunit β2"", ""proteasome subunit β2""" Z Yes No Comparative Toxicogenomics Database:5695, Ensembl:ENSG00000136930, GenAtlas:PSMB7, GeneCard:PSMB7, HGNC:HGNC:9544, HumanCyc Gene:HS06245, ModBase:Q99436, NCBI Gene:5695, OMIM:604030, RefSeq DNA:NT_008470, RefSeq Protein:NP_002790, RefSeq RNA:NM_002799, UCSC Genome Browser:NM_002799, UniProtKB:Q99436 No chr9 127115744 127177752 124353465 124415473 +PA33890 5696 HGNC:9545 ENSG00000204264, ENSG00000206298, ENSG00000226201, ENSG00000230034, ENSG00000230669, ENSG00000231631, ENSG00000235715, ENSG00000236443 proteasome 20S subunit beta 8 PSMB8 """proteasome (prosome, macropain) subunit, beta type, 8"", ""proteasome subunit beta 8"", ""proteasome subunit β5i"", ""proteasome subunit β5i""" D6S216E, LMP7, PSMB5i, RING10, beta5i Yes Yes Comparative Toxicogenomics Database:5696, Ensembl:ENSG00000204264, Ensembl:ENSG00000206298, Ensembl:ENSG00000226201, Ensembl:ENSG00000230034, Ensembl:ENSG00000230669, Ensembl:ENSG00000231631, Ensembl:ENSG00000235715, Ensembl:ENSG00000236443, GenAtlas:PSMB8, GeneCard:PSMB8, HGNC:HGNC:9545, HumanCyc Gene:HS09748, ModBase:P28062, NCBI Gene:5696, OMIM:177046, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_004150, RefSeq Protein:NP_683720, RefSeq RNA:NM_004159, RefSeq RNA:NM_148919, UCSC Genome Browser:NM_004159, UniProtKB:P28062, UniProtKB:Q5QNR8 No chr6 32808494 32812712 32840717 32844935 +PA33891 5698 HGNC:9546 ENSG00000239836, ENSG00000240065, ENSG00000240118, ENSG00000243067, ENSG00000243594 proteasome 20S subunit beta 9 PSMB9 """proteasome (prosome, macropain) subunit, beta type, 9"", ""proteasome subunit beta 9"", ""proteasome subunit β1i"", ""proteasome subunit β1i""" LMP2, PSMB6i, RING12, beta1i Yes No Comparative Toxicogenomics Database:5698, Ensembl:ENSG00000239836, Ensembl:ENSG00000240065, Ensembl:ENSG00000240118, Ensembl:ENSG00000243067, Ensembl:ENSG00000243594, GenAtlas:PSMB9, GeneCard:PSMB9, HGNC:HGNC:9546, HumanCyc Gene:HS03512, ModBase:P28065, NCBI Gene:5698, OMIM:177045, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_002791, RefSeq Protein:NP_683756, RefSeq RNA:NM_002800, RefSeq RNA:NM_148954, UCSC Genome Browser:NM_002800, UniProtKB:P28065, UniProtKB:Q5JNW4 No chr6 32821927 32827628 32854161 32859851 +PA33892 5700 HGNC:9547 ENSG00000100764 proteasome 26S subunit, ATPase 1 PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 RPT2, S4, p56 Yes No Comparative Toxicogenomics Database:5700, Ensembl:ENSG00000100764, GenAtlas:PSMC1, GeneCard:PSMC1, HGNC:HGNC:9547, HumanCyc Gene:HS02142, ModBase:P62191, NCBI Gene:5700, OMIM:602706, RefSeq DNA:NT_026437, RefSeq Protein:NP_002793, RefSeq RNA:NM_002802, UCSC Genome Browser:NM_002802, UniProtKB:P62191, UniProtKB:Q53XL8 No chr14 90722894 90738969 90256550 90272625 +PA134970731 151645 HGNC:30147 ENSG00000241506 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 1 PSMC1P1 bcm3415 Yes No Ensembl:ENSG00000241506, GeneCard:PSMC1P1, HGNC:HGNC:30147, NCBI Gene:151645, RefSeq DNA:NG_001556, RefSeq DNA:NT_022459 No chr3 68684836 68686393 68635685 68637242 +PA33893 5701 HGNC:9548 ENSG00000161057 proteasome 26S subunit, ATPase 2 PSMC2 """mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""proteasome (prosome, macropain) 26S subunit, ATPase, 2"", ""proteasome 26S subunit, ATPase, 2"", ""putative protein product of Nbla10058""" MSS1, Nbla10058, RPT1, S7 Yes No Comparative Toxicogenomics Database:5701, Ensembl:ENSG00000161057, GenAtlas:PSMC2, GeneCard:PSMC2, HGNC:HGNC:9548, HumanCyc Gene:HS08569, ModBase:P35998, NCBI Gene:5701, OMIM:154365, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001191382, RefSeq Protein:NP_002794, RefSeq RNA:NM_001204453, RefSeq RNA:NM_002803, UCSC Genome Browser:NM_002803, UniProtKB:P35998 No chr7 102984852 103009842 103344405 103369395 +PA33894 5702 HGNC:9549 ENSG00000165916 proteasome 26S subunit, ATPase 3 PSMC3 """Tat-binding protein-1"", ""proteasome (prosome, macropain) 26S subunit, ATPase, 3""" RPT5, TBP-1, TBP1 Yes No Comparative Toxicogenomics Database:5702, Ensembl:ENSG00000165916, GenAtlas:PSMC3, GeneCard:PSMC3, HGNC:HGNC:9549, HumanCyc Gene:HS09302, ModBase:P17980, NCBI Gene:5702, OMIM:186852, RefSeq DNA:NT_009237, RefSeq Protein:NP_002795, RefSeq RNA:NM_002804, UCSC Genome Browser:NM_002804, UniProtKB:P17980 No chr11 47440320 47448024 47418769 47426473 +PA143485584 29893 HGNC:17928 ENSG00000131470 PSMC3 interacting protein PSMC3IP TBP-1 interacting protein, homologous-pairing protein 2 homolog GT198, HUMGT198A, Hop2, TBPIP Yes No Comparative Toxicogenomics Database:29893, Ensembl:ENSG00000131470, GeneCard:PSMC3IP, HGNC:HGNC:17928, HumanCyc Gene:HS05533, ModBase:Q9P2W1, NCBI Gene:29893, OMIM:608665, RefSeq DNA:NT_010783, RefSeq Protein:NP_037422, RefSeq Protein:NP_057640, RefSeq RNA:NM_013290, RefSeq RNA:NM_016556, UniProtKB:B5ME70, UniProtKB:Q9P2W1 No chr17 40724328 40729849 42572310 42577831 +PA33896 5704 HGNC:9551 ENSG00000013275 proteasome 26S subunit, ATPase 4 PSMC4 """MB67 interacting protein"", ""Tat-binding protein 7"", ""protease 26S subunit 6"", ""proteasome (prosome, macropain) 26S subunit, ATPase, 4""" MGC13687, MGC23214, MGC8570, MIP224, RPT3, S6, TBP-7, TBP7 Yes No Comparative Toxicogenomics Database:5704, Ensembl:ENSG00000013275, GenAtlas:PSMC4, GeneCard:PSMC4, HGNC:HGNC:9551, HumanCyc Gene:HS00340, ModBase:P43686, NCBI Gene:5704, OMIM:602707, RefSeq DNA:NT_011109, RefSeq Protein:NP_006494, RefSeq Protein:NP_694546, RefSeq RNA:NM_006503, RefSeq RNA:NM_153001, UCSC Genome Browser:NM_006503, UniProtKB:A8K2M0, UniProtKB:P43686 No chr19 40476912 40487671 39971005 39981764 +PA33897 5705 HGNC:9552 ENSG00000087191 proteasome 26S subunit, ATPase 5 PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5 RPT6, S8, SUG-1, SUG1, TBP10, TRIP1, p45, p45/SUG Yes No Comparative Toxicogenomics Database:5705, Ensembl:ENSG00000087191, GenAtlas:PSMC5, GeneCard:PSMC5, HGNC:HGNC:9552, HumanCyc Gene:HS01562, ModBase:P62195, NCBI Gene:5705, OMIM:601681, RefSeq DNA:NT_010783, RefSeq Protein:NP_001186092, RefSeq Protein:NP_002796, RefSeq RNA:NM_001199163, RefSeq RNA:NM_002805, UCSC Genome Browser:NM_002805, UniProtKB:P62195 No chr17 61904770 61909387 63827410 63832027 +PA33898 5706 HGNC:9553 ENSG00000100519 proteasome 26S subunit, ATPase 6 PSMC6 proteasome (prosome, macropain) 26S subunit, ATPase, 6 RPT5, p42 Yes No Comparative Toxicogenomics Database:5706, Ensembl:ENSG00000100519, GenAtlas:PSMC6, GeneCard:PSMC6, HGNC:HGNC:9553, HumanCyc Gene:HS02101, ModBase:P62333, NCBI Gene:5706, OMIM:602708, RefSeq DNA:NT_026437, RefSeq Protein:NP_002797, RefSeq RNA:NM_002806, UCSC Genome Browser:NM_002806, UniProtKB:P62333 No chr14 53173894 53194716 52707163 52727998 +PA134917620 266723 HGNC:20634 proteasome 26S subunit, ATPase, 6 pseudogene 1 PSMC6P1 Yes No HGNC:HGNC:20634, NCBI Gene:266723, RefSeq DNA:NG_002379, RefSeq DNA:NT_008183 No chr8 56962240 56963775 56049681 56051216 +PA33899 5707 HGNC:9554 ENSG00000173692 proteasome 26S subunit, non-ATPase 1 PSMD1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 P112, Rpn2, S1 Yes No Comparative Toxicogenomics Database:5707, Ensembl:ENSG00000173692, GenAtlas:PSMD1, GeneCard:PSMD1, HGNC:HGNC:9554, HumanCyc Gene:HS10713, ModBase:Q8IV79, NCBI Gene:5707, RefSeq DNA:NT_005403, RefSeq Protein:NP_001177966, RefSeq Protein:NP_002798, RefSeq RNA:NM_001191037, RefSeq RNA:NM_002807, RefSeq RNA:NR_034059, UCSC Genome Browser:NM_002807, UniProtKB:Q99460 No chr2 231921578 232037541 231056864 231172827 +PA33900 5716 HGNC:9555 ENSG00000101843 proteasome 26S subunit, non-ATPase 10 PSMD10 """gankyrin"", ""proteasome (prosome, macropain) 26S subunit, non-ATPase, 10""" p28 Yes No Comparative Toxicogenomics Database:5716, Ensembl:ENSG00000101843, GenAtlas:PSMD10, GeneCard:PSMD10, HGNC:HGNC:9555, HumanCyc Gene:HS02305, ModBase:O75832, NCBI Gene:5716, OMIM:603480, RefSeq DNA:NG_012521, RefSeq DNA:NT_011651, RefSeq Protein:NP_002805, RefSeq Protein:NP_736606, RefSeq RNA:NM_002814, RefSeq RNA:NM_170750, UCSC Genome Browser:NM_002814, UniProtKB:O75832, UniProtKB:Q8IZK9 No chrX 107327435 107334874 108084205 108091644 +PA33901 170541 HGNC:16602 ENSG00000228663 proteasome 26S subunit, non-ATPase, 10 pseudogene 1 PSMD10P1 dJ914P20.4 Yes No Ensembl:ENSG00000228663, GenAtlas:PSMD10P, GeneCard:PSMD10P1, HGNC:HGNC:16602, NCBI Gene:170541, RefSeq DNA:NG_001050, RefSeq DNA:NT_011362 No chr20 49530252 49531132 50913715 50914595 +PA33902 5717 HGNC:9556 ENSG00000108671 proteasome 26S subunit, non-ATPase 11 PSMD11 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 MGC3844, Rpn6, S9, p44.5 Yes No Comparative Toxicogenomics Database:5717, Ensembl:ENSG00000108671, GenAtlas:PSMD11, GeneCard:PSMD11, HGNC:HGNC:9556, HumanCyc Gene:HS03140, ModBase:O00231, NCBI Gene:5717, OMIM:604449, RefSeq DNA:NT_010799, RefSeq Protein:NP_002806, RefSeq RNA:NM_002815, UCSC Genome Browser:NM_002815, UniProtKB:O00231 No chr17 30771481 30810337 32444463 32483319 +PA33903 5718 HGNC:9557 ENSG00000197170 proteasome 26S subunit, non-ATPase 12 PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 Rpn5, p55 Yes No Comparative Toxicogenomics Database:5718, Ensembl:ENSG00000197170, GenAtlas:PSMD12, GeneCard:PSMD12, HGNC:HGNC:9557, ModBase:O00232, NCBI Gene:5718, OMIM:604450, RefSeq DNA:NT_010783, RefSeq Protein:NP_002807, RefSeq Protein:NP_777360, RefSeq RNA:NM_002816, RefSeq RNA:NM_174871, UCSC Genome Browser:NM_002816, UniProtKB:A6NP15, UniProtKB:O00232 No chr17 65336619 65362721 67337916 67366627 +PA33904 5719 HGNC:9558 ENSG00000185627 proteasome 26S subunit, non-ATPase 13 PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 Rpn9, p40.5 Yes No Comparative Toxicogenomics Database:5719, Ensembl:ENSG00000185627, GenAtlas:PSMD13, GeneCard:PSMD13, HGNC:HGNC:9558, ModBase:Q9UNM6, NCBI Gene:5719, OMIM:603481, RefSeq DNA:NT_009237, RefSeq Protein:NP_002808, RefSeq Protein:NP_787128, RefSeq RNA:NM_002817, RefSeq RNA:NM_175932, UCSC Genome Browser:NM_002817, UniProtKB:B3KT15, UniProtKB:Q9UNM6 No chr11 236808 252984 236675 252984 +PA134957776 10213 HGNC:16889 ENSG00000115233 proteasome 26S subunit, non-ATPase 14 PSMD14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 POH1, Rpn11, pad1 Yes Yes Comparative Toxicogenomics Database:10213, Ensembl:ENSG00000115233, GeneCard:PSMD14, HGNC:HGNC:16889, HumanCyc Gene:HS03852, ModBase:O00487, NCBI Gene:10213, OMIM:607173, RefSeq DNA:NT_005403, RefSeq Protein:NP_005796, RefSeq RNA:NM_005805, UniProtKB:O00487, UniProtKB:Q96DE8 No chr2 162164786 162268228 161308275 161411717 +PA33905 5708 HGNC:9559 ENSG00000175166 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 PSMD2 """proteasome (prosome, macropain) 26S subunit, non-ATPase, 2"", ""proteasome 26S subunit, non-ATPase 2""" MGC14274, P97, Rpn1, S2, TRAP2 Yes No Ensembl:ENSG00000175166, GenAtlas:PSMD2, GeneCard:PSMD2, HGNC:HGNC:9559, HumanCyc Gene:HS10888, ModBase:Q13200, NCBI Gene:5708, OMIM:606223, RefSeq DNA:NT_005612, RefSeq Protein:NP_002799, RefSeq RNA:NM_002808, UCSC Genome Browser:NM_002808, UniProtKB:Q13200 No chr3 184016886 184026842 184299098 184309054 +PA38123 5709 HGNC:9560 ENSG00000108344 proteasome 26S subunit, non-ATPase 3 PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 P58, Rpn3, S3, TSTA2 Yes No Comparative Toxicogenomics Database:5709, Ensembl:ENSG00000108344, GenAtlas:PSMD3, GenAtlas:TSTA2, GeneCard:PSMD3, GeneCard:TSTA2, HGNC:HGNC:9560, HumanCyc Gene:HS03089, ModBase:O43242, NCBI Gene:5709, RefSeq DNA:NT_010783, RefSeq Protein:NP_002800, RefSeq RNA:NM_002809, UCSC Genome Browser:NM_002809, UniProtKB:O43242, UniProtKB:Q8N9M2 No chr17 38137021 38154213 39980768 39997960 +PA33907 5710 HGNC:9561 ENSG00000159352 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 PSMD4 """proteasome (prosome, macropain) 26S subunit, non-ATPase, 4"", ""proteasome 26S subunit, non-ATPase 4""" AF, AF-1, Rpn10, S5A Yes No Comparative Toxicogenomics Database:5710, Ensembl:ENSG00000159352, GenAtlas:PSMD4, GeneCard:PSMD4, HGNC:HGNC:9561, HumanCyc Gene:HS08392, ModBase:P55036, NCBI Gene:5710, OMIM:601648, RefSeq DNA:NT_004487, RefSeq Protein:NP_002801, RefSeq RNA:NM_002810, UCSC Genome Browser:NM_002810, UniProtKB:P55036 No chr1 151227176 151239955 151254700 151267479 +PA33908 54035 HGNC:9562 ENSG00000223741 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 pseudogene 1 PSMD4P1 Yes No Ensembl:ENSG00000223741, GenAtlas:PSMD15, GeneCard:PSMD4P1, HGNC:HGNC:9562, NCBI Gene:54035, RefSeq DNA:NG_002723, RefSeq DNA:NT_011512 No chr21 37858168 37859730 36485870 36487432 +PA33909 5711 HGNC:9563 ENSG00000095261 proteasome 26S subunit, non-ATPase 5 PSMD5 proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 KIAA0072, S5B Yes No Comparative Toxicogenomics Database:5711, Ensembl:ENSG00000095261, GenAtlas:PSMD5, GeneCard:PSMD5, HGNC:HGNC:9563, HumanCyc Gene:HS01814, ModBase:Q16401, NCBI Gene:5711, OMIM:604452, RefSeq DNA:NT_008470, RefSeq Protein:NP_005038, RefSeq RNA:NM_005047, UCSC Genome Browser:NM_005047, UniProtKB:Q16401 No chr9 123578331 123605299 120798318 120843021 +PA33910 9861 HGNC:9564 ENSG00000163636 proteasome 26S subunit, non-ATPase 6 PSMD6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 KIAA0107, Rpn7, S10, p44S10 Yes No Comparative Toxicogenomics Database:9861, Ensembl:ENSG00000163636, GenAtlas:PSMD6, GeneCard:PSMD6, HGNC:HGNC:9564, HumanCyc Gene:HS08902, ModBase:Q15008, NCBI Gene:9861, RefSeq DNA:NT_022517, RefSeq Protein:NP_055629, RefSeq RNA:NM_014814, UniProtKB:Q15008 No chr3 63996225 64009686 64010549 64024010 +PA33911 5713 HGNC:9565 ENSG00000103035 proteasome 26S subunit, non-ATPase 7 PSMD7 """Mov34 homolog"", ""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7""" MOV34, P40, Rpn8, S12 Yes No Comparative Toxicogenomics Database:5713, Ensembl:ENSG00000103035, GenAtlas:PSMD7, GeneCard:PSMD7, HGNC:HGNC:9565, HumanCyc Gene:HS02444, ModBase:P51665, NCBI Gene:5713, OMIM:157970, RefSeq DNA:NT_010498, RefSeq Protein:NP_002802, RefSeq RNA:NM_002811, UCSC Genome Browser:NM_002811, UniProtKB:P51665 No chr16 74330673 74340186 74296775 74306288 +PA33912 5714 HGNC:9566 ENSG00000099341 proteasome 26S subunit, non-ATPase 8 PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 HIP6, HYPF, Nin1p, Rpn12, S14, p31 Yes No Comparative Toxicogenomics Database:5714, Ensembl:ENSG00000099341, GenAtlas:PSMD8, GeneCard:PSMD8, HGNC:HGNC:9566, HumanCyc Gene:HS01891, ModBase:P48556, NCBI Gene:5714, RefSeq DNA:NT_011109, RefSeq Protein:NP_002803, RefSeq RNA:NM_002812, UCSC Genome Browser:NM_002812, UniProtKB:B4DX18, UniProtKB:P48556 No chr19 38865190 38874464 38374550 38383824 +PA33913 5715 HGNC:9567 ENSG00000110801, ENSG00000256950 proteasome 26S subunit, non-ATPase 9 PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 Rpn4, p27 Yes No Comparative Toxicogenomics Database:5715, Ensembl:ENSG00000110801, Ensembl:ENSG00000256950, GenAtlas:PSMD9, GeneCard:PSMD9, HGNC:HGNC:9567, HumanCyc Gene:HS03340, ModBase:O00233, NCBI Gene:5715, OMIM:603146, RefSeq DNA:NT_009775, RefSeq Protein:NP_002804, RefSeq RNA:NM_002813, UCSC Genome Browser:NM_002813, UniProtKB:O00233 No chr12 122326637 122355771 121888731 121917865 +PA33914 5720 HGNC:9568 ENSG00000092010 proteasome activator subunit 1 PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) IFI5111, PA28alpha Yes No Comparative Toxicogenomics Database:5720, Ensembl:ENSG00000092010, GenAtlas:PSME1, GeneCard:PSME1, HGNC:HGNC:9568, HumanCyc Gene:HS01751, ModBase:Q06323, NCBI Gene:5720, OMIM:600654, RefSeq DNA:NT_026437, RefSeq Protein:NP_006254, RefSeq Protein:NP_788955, RefSeq RNA:NM_006263, RefSeq RNA:NM_176783, UCSC Genome Browser:NM_006263, UniProtKB:A6NJG9, UniProtKB:Q06323, UniProtKB:Q6IBM2, UniProtKB:Q86SZ9 No chr14 24605295 24608176 24136158 24138967 +PA33915 5721 HGNC:9569 ENSG00000100911 proteasome activator subunit 2 PSME2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) PA28beta Yes No Comparative Toxicogenomics Database:5721, Ensembl:ENSG00000100911, GenAtlas:PSME2, GeneCard:PSME2, HGNC:HGNC:9569, HumanCyc Gene:HS02164, ModBase:Q9UL46, NCBI Gene:5721, OMIM:602161, RefSeq DNA:NT_026437, RefSeq Protein:NP_002809, RefSeq RNA:NM_002818, UCSC Genome Browser:NM_002818, UniProtKB:Q86SZ7, UniProtKB:Q9UL46 No chr14 24612574 24615855 24143365 24147316 +PA134910079 257093 HGNC:20632 ENSG00000238000 proteasome activator subunit 2 pseudogene 1 PSME2P1 Yes No Ensembl:ENSG00000238000, HGNC:HGNC:20632, NCBI Gene:257093, RefSeq DNA:NG_002626, RefSeq DNA:NT_023148 No chr5 97549077 97549869 98213373 98214165 +PA33916 10197 HGNC:9570 ENSG00000131467 proteasome activator subunit 3 PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) Ki, PA28-gamma, PA28G, REG-GAMMA Yes No Comparative Toxicogenomics Database:10197, Ensembl:ENSG00000131467, GenAtlas:PSME3, GeneCard:PSME3, HGNC:HGNC:9570, HumanCyc Gene:HS05531, ModBase:P61289, NCBI Gene:10197, OMIM:605129, RefSeq DNA:NT_010783, RefSeq Protein:NP_005780, RefSeq Protein:NP_789839, RefSeq RNA:NM_005789, RefSeq RNA:NM_176863, UCSC Genome Browser:NM_005789, UniProtKB:P61289 No chr17 40985159 40995777 42833142 42843760 +PA166352060 80011 HGNC:29856 proteasome activator subunit 3 interacting protein 1 PSME3IP1 NEFA interacting nuclear protein NIP30, PA28G interacting protein 30kDa, PSME3 interacting protein 30kDa C16orf94, FAM192A, NIP30, PIP30 Yes No HGNC:HGNC:29856, NCBI Gene:80011 No 0 0 0 0 +PA134872587 23198 HGNC:20635 ENSG00000068878 proteasome activator subunit 4 PSME4 proteasome (prosome, macropain) activator subunit 4 KIAA0077, PA200 Yes No Comparative Toxicogenomics Database:23198, Ensembl:ENSG00000068878, GeneCard:PSME4, HGNC:HGNC:20635, NCBI Gene:23198, OMIM:607705, RefSeq DNA:NT_022184, RefSeq Protein:NP_055429, RefSeq RNA:NM_014614, UniProtKB:Q14997 No chr2 54091204 54197977 53864067 53970840 +PA33917 9491 HGNC:9571 ENSG00000125818 proteasome inhibitor subunit 1 PSMF1 """proteasome (prosome, macropain) inhibitor subunit 1 (PI31)"", ""proteasome inhibitor hP131 subunit""" PI31 Yes No Comparative Toxicogenomics Database:9491, Ensembl:ENSG00000125818, GenAtlas:PSMF1, GeneCard:PSMF1, HGNC:HGNC:9571, HumanCyc Gene:HS04942, ModBase:Q92530, NCBI Gene:9491, RefSeq DNA:NT_011387, RefSeq Protein:NP_006805, RefSeq Protein:NP_848693, RefSeq RNA:NM_006814, RefSeq RNA:NM_178578, UCSC Genome Browser:NM_006814, UniProtKB:Q92530 No chr20 1093872 1149017 1113229 1172246 +PA162400229 8624 HGNC:3043 ENSG00000183527 proteasome assembly chaperone 1 PSMG1 proteasome (prosome, macropain) assembly chaperone 1 DSCR2, LRPC21, PAC1, c21-LRP Yes No Ensembl:ENSG00000183527, GeneCard:PSMG1, HGNC:HGNC:3043, ModBase:O95456, NCBI Gene:8624, OMIM:605296, RefSeq DNA:NT_011512, RefSeq Protein:NP_003711, RefSeq Protein:NP_982257, RefSeq RNA:NM_003720, RefSeq RNA:NM_203433, UniProtKB:O95456 No chr21 40449076 40555440 39175446 39183514 +PA162400246 56984 HGNC:24929 ENSG00000128789 proteasome assembly chaperone 2 PSMG2 """CD40 ligand-activated specific transcript 3"", ""hepatocellular carcinoma susceptibility protein"", ""proteasome (prosome, macropain) assembly chaperone 2""" CLAST3, HCCA3, HsT1707, MDS003, MGC15092, PAC2, TNFSF5IP1 Yes No Ensembl:ENSG00000128789, GeneCard:PSMG2, HGNC:HGNC:24929, HumanCyc Gene:HS13276, ModBase:Q969U7, NCBI Gene:56984, OMIM:609702, RefSeq DNA:NT_010859, RefSeq Protein:NP_064617, RefSeq Protein:NP_671692, RefSeq RNA:NM_020232, RefSeq RNA:NM_147163, UniProtKB:Q969U7 No chr18 12658738 12725739 12658739 12725740 +PA162400247 84262 HGNC:22420 ENSG00000157778 proteasome assembly chaperone 3 PSMG3 proteasome (prosome, macropain) assembly chaperone 3 C7orf48, MGC10911, PAC3 Yes No Ensembl:ENSG00000157778, GeneCard:PSMG3, HGNC:HGNC:22420, HumanCyc Gene:HS14676, NCBI Gene:84262, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001127812, RefSeq Protein:NP_115678, RefSeq RNA:NM_001134340, RefSeq RNA:NM_032302, UniProtKB:Q9BT73 No chr7 1606968 1609668 1567332 1570032 +PA162400256 389362 HGNC:21108 ENSG00000180822 proteasome assembly chaperone 4 PSMG4 proteasome (prosome, macropain) assembly chaperone 4 C6orf86, PAC4 Yes No Ensembl:ENSG00000180822, GeneCard:PSMG4, HGNC:HGNC:21108, NCBI Gene:389362, RefSeq DNA:NT_007592, RefSeq Protein:NP_001122063, RefSeq Protein:NP_001122064, RefSeq Protein:NP_001129222, RefSeq RNA:NM_001128591, RefSeq RNA:NM_001128592, RefSeq RNA:NM_001135750, UniProtKB:C9J2F8, UniProtKB:Q5JS54 No chr6 3259162 3268300 3254325 3308224 +PA33919 170679 HGNC:17202 ENSG00000204540, ENSG00000231094, ENSG00000233439, ENSG00000235487 psoriasis susceptibility 1 candidate 1 PSORS1C1 C6orf16, SEEK1 Yes Yes Ensembl:ENSG00000204540, Ensembl:ENSG00000231094, Ensembl:ENSG00000233439, Ensembl:ENSG00000235487, GenAtlas:PSORS1C1, GeneCard:PSORS1C1, HGNC:HGNC:17202, NCBI Gene:170679, RefSeq DNA:NG_021348, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_054787, RefSeq RNA:NM_014068, UCSC Genome Browser:NM_014068, UniProtKB:D2IYL0, UniProtKB:Q9UIG5 No chr6 31082608 31107869 31114831 31140092 +PA33920 170680 HGNC:17199 ENSG00000204538 psoriasis susceptibility 1 candidate 2 PSORS1C2 C6orf17, SPR1 Yes Yes Ensembl:ENSG00000204538, GenAtlas:PSORS1C2, GeneCard:PSORS1C2, HGNC:HGNC:17199, NCBI Gene:170680, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_054788, RefSeq RNA:NM_014069, UCSC Genome Browser:NM_014069, UniProtKB:Q9UIG4 No chr6 31105311 31107127 31137534 31139350 +PA33921 100130889 HGNC:17203 ENSG00000204528 psoriasis susceptibility 1 candidate 3 (non-protein coding) PSORS1C3 non-protein coding RNA 196 NCRNA00196 Yes Yes Ensembl:ENSG00000204528, GenAtlas:PSORS1C3, GeneCard:PSORS1C3, HGNC:HGNC:17203, NCBI Gene:100130889, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_026816 No chr6 31141512 31145676 31173735 31177899 +PA134968603 55269 HGNC:20320 ENSG00000121390 paraspeckle component 1 PSPC1 FLJ10955, PSP1 Yes No Comparative Toxicogenomics Database:55269, Ensembl:ENSG00000121390, GeneCard:PSPC1, HGNC:HGNC:20320, HumanCyc Gene:HS04493, ModBase:Q8WXF1, NCBI Gene:55269, OMIM:612408, RefSeq DNA:NT_024524, RefSeq Protein:NP_001035879, RefSeq RNA:NM_001042414, RefSeq RNA:NR_003272, UniProtKB:Q8WXF1 No chr13 20248892 20357159 19674752 19783047 +PA33928 5723 HGNC:9577 ENSG00000146733 phosphoserine phosphatase PSPH PSP Yes No Comparative Toxicogenomics Database:5723, Ensembl:ENSG00000146733, GenAtlas:PSPH, GeneCard:PSPH, HGNC:HGNC:9577, HumanCyc Gene:HS07370, ModBase:P78330, NCBI Gene:5723, OMIM:172480, RefSeq DNA:NG_011473, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_004568, RefSeq RNA:NM_004577, UCSC Genome Browser:NM_004577, UniProtKB:P78330 No chr7 56078056 56119297 56010363 56051604 +PA33929 8781 HGNC:9578 ENSG00000226278 phosphoserine phosphatase pseudogene 1 PSPHP1 L-3-phosphoserine-phosphatase homolog CO9 Yes No Ensembl:ENSG00000226278, GenAtlas:PSPHL, GeneCard:PSPHP1, HGNC:HGNC:9578, HumanCyc Gene:HS00060, NCBI Gene:8781, OMIM:604239, RefSeq DNA:NG_009001, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, UCSC Genome Browser:NM_003832 No chr7 55832490 55841389 55764797 55773696 +PA33930 5623 HGNC:9579 ENSG00000125650 persephin PSPN PSP Yes No Comparative Toxicogenomics Database:5623, Ensembl:ENSG00000125650, GenAtlas:PSPN, GeneCard:PSPN, HGNC:HGNC:9579, HumanCyc Gene:HS04909, ModBase:O60542, NCBI Gene:5623, OMIM:602921, RefSeq DNA:NT_011255, RefSeq Protein:NP_004149, RefSeq RNA:NM_004158, UCSC Genome Browser:NM_004158, UniProtKB:O60542 No chr19 6375305 6375860 6375294 6375849 +PA142671120 84722 HGNC:24472 ENSG00000134222 proline and serine rich coiled-coil 1 PSRC1 differential display and activated by p53, proline/serine-rich coiled-coil 1 DDA3 Yes Yes Comparative Toxicogenomics Database:84722, Ensembl:ENSG00000134222, GeneCard:PSRC1, HGNC:HGNC:24472, HumanCyc Gene:HS13514, ModBase:Q6PGN9, NCBI Gene:84722, OMIM:613126, RefSeq DNA:NT_032977, RefSeq Protein:NP_001005290, RefSeq Protein:NP_001027461, RefSeq Protein:NP_001027462, RefSeq Protein:NP_116025, RefSeq RNA:NM_001005290, RefSeq RNA:NM_001032290, RefSeq RNA:NM_001032291, RefSeq RNA:NM_032636, UniProtKB:A8K0M8, UniProtKB:Q6PGN9 No chr1 109822176 109825790 109279554 109283182 +PA162400268 118672 HGNC:28578 ENSG00000179988 phosphoseryl-tRNA kinase PSTK L-seryl-tRNA(Sec) kinase, O-phosphoseryl-tRNA(Sec) kinase C10orf89, MGC35392 Yes No Ensembl:ENSG00000179988, GeneCard:PSTK, HGNC:HGNC:28578, HumanCyc Gene:HS17405, ModBase:Q8IV42, NCBI Gene:118672, OMIM:611310, RefSeq DNA:NT_030059, RefSeq Protein:NP_699167, RefSeq RNA:NM_153336, UniProtKB:Q8IV42 No chr10 124739556 124749906 122980040 122997519 +PA33931 9051 HGNC:9580 ENSG00000140368 proline-serine-threonine phosphatase interacting protein 1 PSTPIP1 CD2 antigen-binding protein 1, CD2 cytoplasmic tail-binding protein, PEST phosphatase-interacting protein 1 CD2BP1, CD2BP1L, CD2BP1S, H-PIP, PAPAS, PSTPIP Yes No Comparative Toxicogenomics Database:9051, Ensembl:ENSG00000140368, GenAtlas:PSTPIP1, GeneCard:PSTPIP1, HGNC:HGNC:9580, HumanCyc Gene:HS06706, ModBase:O43586, NCBI Gene:9051, OMIM:604416, OMIM:606347, RefSeq DNA:NG_007526, RefSeq DNA:NT_010194, RefSeq Protein:NP_003969, RefSeq RNA:NM_003978, UCSC Genome Browser:NM_003978, UniProtKB:O43586 No chr15 77287021 77329673 76994680 77037475 +PA33932 9050 HGNC:9581 ENSG00000152229 proline-serine-threonine phosphatase interacting protein 2 PSTPIP2 Yes No Ensembl:ENSG00000152229, GenAtlas:PSTPIP2, GeneCard:PSTPIP2, HGNC:HGNC:9581, HumanCyc Gene:HS07799, NCBI Gene:9050, RefSeq DNA:NT_010966, RefSeq Protein:NP_077748, RefSeq RNA:NM_024430, UCSC Genome Browser:NM_024430, UniProtKB:Q9H939 No chr18 43563502 43652250 45983536 46072327 +PA33933 5724 HGNC:9582 ENSG00000169403 platelet activating factor receptor PTAFR platelet-activating factor receptor Yes No Comparative Toxicogenomics Database:5724, Ensembl:ENSG00000169403, GenAtlas:PTAFR, GeneCard:PTAFR, HGNC:HGNC:9582, HumanCyc Gene:HS09941, IUPHAR Receptor:334, ModBase:P25105, NCBI Gene:5724, OMIM:173393, RefSeq DNA:NT_004610, RefSeq Protein:NP_000943, RefSeq Protein:NP_001158193, RefSeq Protein:NP_001158194, RefSeq Protein:NP_001158195, RefSeq RNA:NM_000952, RefSeq RNA:NM_001164721, RefSeq RNA:NM_001164722, RefSeq RNA:NM_001164723, UCSC Genome Browser:NM_000952, UniProtKB:A8K7N8, UniProtKB:P25105 No chr1 28473677 28520447 28147166 28193936 +PA134897041 375743 HGNC:30449 ENSG00000188647 protein prenyltransferase alpha subunit repeat containing 1 PTAR1 Yes No Comparative Toxicogenomics Database:375743, Ensembl:ENSG00000188647, GeneCard:PTAR1, HGNC:HGNC:30449, ModBase:Q7Z6K3, NCBI Gene:375743, RefSeq DNA:NT_008470, RefSeq Protein:NP_001093136, RefSeq RNA:NM_001099666, UniProtKB:Q7Z6K3 No chr9 72324438 72374916 69709522 69760050 +PA33934 5725 HGNC:9583 ENSG00000011304 polypyrimidine tract binding protein 1 PTBP1 heterogeneous nuclear ribonucleoprotein I HNRNP-I, HNRPI, PTB, PTB-1, PTB2, PTB3, PTB4, pPTB Yes No Comparative Toxicogenomics Database:5725, Ensembl:ENSG00000011304, GenAtlas:PTBP1, GeneCard:PTBP1, HGNC:HGNC:9583, HumanCyc Gene:HS00310, ModBase:P26599, NCBI Gene:5725, OMIM:600693, RefSeq DNA:NT_011255, RefSeq Protein:NP_002810, RefSeq Protein:NP_114367, RefSeq Protein:NP_114368, RefSeq Protein:NP_787041, RefSeq RNA:NM_002819, RefSeq RNA:NM_031990, RefSeq RNA:NM_031991, RefSeq RNA:NM_175847, UCSC Genome Browser:NM_002819, UniProtKB:A6NLN1, UniProtKB:P26599, UniProtKB:Q9BUQ0 No chr19 797392 812327 797392 812327 +PA134898811 122888 HGNC:20030 ENSG00000259078 polypyrimidine tract binding protein 1 pseudogene PTBP1P Yes No Ensembl:ENSG00000259078, GeneCard:PTBP1P, HGNC:HGNC:20030, NCBI Gene:122888, RefSeq DNA:NG_002328, RefSeq DNA:NT_026437 No chr14 65745938 65748375 65279220 65281655 +PA33935 58155 HGNC:17662 ENSG00000117569 polypyrimidine tract binding protein 2 PTBP2 PTB, PTBLP, brPTB, nPTB Yes No Comparative Toxicogenomics Database:58155, Ensembl:ENSG00000117569, GenAtlas:PTBP2, GeneCard:PTBP2, HGNC:HGNC:17662, HumanCyc Gene:HS04150, ModBase:Q9UKA9, NCBI Gene:58155, OMIM:608449, RefSeq DNA:NT_032977, RefSeq Protein:NP_067013, RefSeq RNA:NM_021190, UCSC Genome Browser:NM_021190, UniProtKB:Q9UKA9 No chr1 97187161 97280605 96721605 96815049 +PA34625 9991 HGNC:10253 ENSG00000119314 polypyrimidine tract binding protein 3 PTBP3 DKFZp781I1117, ROD1 Yes No Comparative Toxicogenomics Database:9991, Ensembl:ENSG00000119314, GenAtlas:ROD1, GeneCard:ROD1, HGNC:HGNC:10253, HumanCyc Gene:HS04282, ModBase:O95758, NCBI Gene:9991, OMIM:607527, RefSeq DNA:NT_008470, RefSeq Protein:NP_001157260, RefSeq Protein:NP_001157262, RefSeq Protein:NP_005147, RefSeq RNA:NM_001163788, RefSeq RNA:NM_001163790, RefSeq RNA:NM_005156, UCSC Genome Browser:NM_005156, UniProtKB:B1ALY5, UniProtKB:O95758 No chr9 114979995 115095944 112217715 112333664 +PA134877986 26024 HGNC:22198 ENSG00000106246 pentatricopeptide repeat domain 1 PTCD1 KIAA0632 Yes No Ensembl:ENSG00000106246, GeneCard:PTCD1, HGNC:HGNC:22198, HumanCyc Gene:HS12628, ModBase:O75127, NCBI Gene:26024, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_056360, RefSeq RNA:NM_015545, UniProtKB:A4D273, UniProtKB:O75127 No chr7 99014362 99045811 99416739 99438839 +PA134909110 79810 HGNC:25734 ENSG00000049883 pentatricopeptide repeat domain 2 PTCD2 FLJ12598 Yes No Comparative Toxicogenomics Database:79810, Ensembl:ENSG00000049883, GeneCard:PTCD2, HGNC:HGNC:25734, HumanCyc Gene:HS12118, ModBase:Q8WV60, NCBI Gene:79810, RefSeq DNA:NT_006713, RefSeq Protein:NP_079030, RefSeq RNA:NM_024754, UniProtKB:Q8WV60 No chr5 71616200 71656544 72320367 72368395 +PA134953685 100131302 HGNC:31718 ENSG00000258456 pentatricopeptide repeat domain 2 pseudogene 1 PTCD2P1 Yes No Ensembl:ENSG00000258456, GeneCard:PTCD2P1, HGNC:HGNC:31718, NCBI Gene:100131302 No chr14 20992448 20993574 20524289 20525415 +PA147357465 55037 HGNC:24717 ENSG00000132300 pentatricopeptide repeat domain 3 PTCD3 DKFZp666K071, FLJ20758, mS39 Yes No Ensembl:ENSG00000132300, GeneCard:PTCD3, HGNC:HGNC:24717, HumanCyc Gene:HS13420, ModBase:Q96EY7, NCBI Gene:55037, RefSeq DNA:NT_022184, RefSeq Protein:NP_060422, RefSeq RNA:NM_017952, UniProtKB:Q96EY7 No chr2 86333305 86369280 86106182 86142157 +PA33937 5727 HGNC:9585 ENSG00000185920 patched 1 PTCH1 BCNS, NBCCS, PTCH Yes No Comparative Toxicogenomics Database:5727, Ensembl:ENSG00000185920, GenAtlas:PTCH, GeneCard:PTCH, GeneCard:PTCH1, HGNC:HGNC:9585, NCBI Gene:5727, OMIM:109400, OMIM:155255, OMIM:601309, OMIM:605462, OMIM:610828, RefSeq DNA:NG_007664, RefSeq DNA:NT_008470, RefSeq Protein:NP_000255, RefSeq Protein:NP_001077071, RefSeq Protein:NP_001077072, RefSeq Protein:NP_001077073, RefSeq Protein:NP_001077074, RefSeq Protein:NP_001077075, RefSeq Protein:NP_001077076, RefSeq RNA:NM_000264, RefSeq RNA:NM_001083602, RefSeq RNA:NM_001083603, RefSeq RNA:NM_001083604, RefSeq RNA:NM_001083605, RefSeq RNA:NM_001083606, RefSeq RNA:NM_001083607, UCSC Genome Browser:NM_000264, UniProtKB:Q13635, UniProtKB:Q59FG5, UniProtKB:Q5R1U7, UniProtKB:Q5R1U9, UniProtKB:Q5R1V0, UniProtKB:Q5VZC2 No chr9 98205264 98279247 95442982 95516965 +PA33938 8643 HGNC:9586 ENSG00000117425 patched 2 PTCH2 Yes No Comparative Toxicogenomics Database:8643, Ensembl:ENSG00000117425, GenAtlas:PTCH2, GeneCard:PTCH2, HGNC:HGNC:9586, HumanCyc Gene:HS04132, ModBase:Q9Y6C5, NCBI Gene:8643, OMIM:155255, OMIM:603673, OMIM:605462, RefSeq DNA:NG_013369, RefSeq DNA:NT_032977, RefSeq Protein:NP_001159764, RefSeq Protein:NP_003729, RefSeq RNA:NM_001166292, RefSeq RNA:NM_003738, UCSC Genome Browser:NM_003738, UniProtKB:Q9Y6C5 No chr1 45285516 45309226 44819844 44842944 +PA134942420 139411 HGNC:26392 ENSG00000165186 patched domain containing 1 PTCHD1 FLJ30296 Yes Yes Ensembl:ENSG00000165186, GeneCard:PTCHD1, HGNC:HGNC:26392, HumanCyc Gene:HS09195, ModBase:Q96NR3, NCBI Gene:139411, RefSeq DNA:NG_021300, RefSeq DNA:NT_167197, RefSeq Protein:NP_775766, RefSeq RNA:NM_173495, UniProtKB:Q96NR3 No chrX 23352985 23414918 23334370 23404374 +PA142671117 374308 HGNC:24776 ENSG00000182077 patched domain containing 3 (gene/pseudogene) PTCHD3 patched domain containing 3 FLJ44037, PTR Yes No Ensembl:ENSG00000182077, GeneCard:PTCHD3, HGNC:HGNC:24776, NCBI Gene:374308, OMIM:611791, RefSeq DNA:NT_008705, RefSeq Protein:NP_001030014, RefSeq RNA:NM_001034842, UniProtKB:Q3KNS1 No chr10 27687117 27703297 27398188 27414368 +PA134982541 442213 HGNC:21345 ENSG00000244694 patched domain containing 4 PTCHD4 C6orf138, FLJ41841, PTCH53, dJ402H5.2 Yes No Ensembl:ENSG00000244694, GeneCard:PTCHD4, HGNC:HGNC:21345, ModBase:Q6ZW05, NCBI Gene:442213, RefSeq DNA:NT_007592, RefSeq Protein:NP_001013754, RefSeq Protein:NP_997382, RefSeq RNA:NM_001013732, RefSeq RNA:NM_207499, UniProtKB:B2RPC0, UniProtKB:Q6ZW05 No chr6 47845157 48036425 47858598 48111132 +PA134993184 171558 HGNC:21290 ENSG00000171611 pre T cell antigen receptor alpha PTCRA pre T-cell antigen receptor alpha PT-ALPHA, PTA Yes No Ensembl:ENSG00000171611, GeneCard:PTCRA, HGNC:HGNC:21290, HumanCyc Gene:HS16004, ModBase:Q6ISU1, NCBI Gene:171558, OMIM:606817, RefSeq DNA:NT_007592, RefSeq Protein:NP_612153, RefSeq RNA:NM_138296, UniProtKB:Q6ISU1 No chr6 42883545 42893583 42915989 42925838 +PA165585999 100302522 HGNC:37127 ENSG00000287736 papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding) PTCSC1 non-protein coding RNA 197 AK023948, NCRNA00197 Yes No Ensembl:ENSG00000287736, GeneCard:PTCSC1, HGNC:HGNC:37127, NCBI Gene:100302522 No chr8 +PA33939 9791 HGNC:9587 ENSG00000156471 phosphatidylserine synthase 1 PTDSS1 KIAA0024, PSS1, PSSA Yes No Ensembl:ENSG00000156471, GenAtlas:PTDSS1, GeneCard:PTDSS1, HGNC:HGNC:9587, HumanCyc Gene:HS08129, ModBase:P48651, NCBI Gene:9791, OMIM:612792, RefSeq DNA:NT_008046, RefSeq Protein:NP_055569, RefSeq RNA:NM_014754, UCSC Genome Browser:NM_014754, UniProtKB:P48651 No chr8 97274167 97346774 96261886 96334552 +PA33940 81490 HGNC:15463 ENSG00000174915 phosphatidylserine synthase 2 PTDSS2 PSS2 Yes No Ensembl:ENSG00000174915, GenAtlas:PTDSS2, GeneCard:PTDSS2, HGNC:HGNC:15463, HumanCyc Gene:HS10846, NCBI Gene:81490, OMIM:612793, RefSeq DNA:NT_009237, RefSeq Protein:NP_110410, RefSeq RNA:NM_030783, UCSC Genome Browser:NM_030783, UniProtKB:Q9BVG9 No chr11 450280 491399 448264 491399 +PA33942 5728 HGNC:9588 ENSG00000171862 phosphatase and tensin homolog PTEN """Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN"", ""mutated in multiple advanced cancers 1""" BZS, MHAM, MMAC1, PTEN1, TEP1 Yes Yes Comparative Toxicogenomics Database:5728, Ensembl:ENSG00000171862, GenAtlas:PTEN, GeneCard:PTEN, HGNC:HGNC:9588, HumanCyc Gene:HS10404, ModBase:P60484, NCBI Gene:5728, OMIM:137800, OMIM:153480, OMIM:155600, OMIM:158350, OMIM:174900, OMIM:176807, OMIM:176920, OMIM:188470, OMIM:275355, OMIM:276950, OMIM:601728, OMIM:605309, OMIM:607174, OMIM:608089, OMIM:612242, OMIM:613028, RefSeq DNA:NG_007466, RefSeq DNA:NT_030059, RefSeq Protein:NP_000305, RefSeq RNA:NM_000314, UCSC Genome Browser:NM_000314, UniProtKB:P60484 No chr10 89623195 89728532 87863438 87971930 +PA33943 11191 HGNC:9589 ENSG00000237984 phosphatase and tensin homolog pseudogene 1 PTENP1 PTEN-rs, PTEN2, PTH2, psiPTEN Yes No Ensembl:ENSG00000237984, GenAtlas:PTENP1, GeneCard:PTENP1, HGNC:HGNC:9589, NCBI Gene:11191, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413, RefSeq RNA:NR_023917 No chr9 33673502 33677418 33673504 33677420 +PA33944 9317 HGNC:9590 ENSG00000165983 phosphotriesterase related PTER Yes No Comparative Toxicogenomics Database:9317, Ensembl:ENSG00000165983, GenAtlas:PTER, GeneCard:PTER, HGNC:HGNC:9590, HumanCyc Gene:HS09313, ModBase:Q96BW5, NCBI Gene:9317, OMIM:604446, RefSeq DNA:NT_008705, RefSeq Protein:NP_001001484, RefSeq Protein:NP_109589, RefSeq RNA:NM_001001484, RefSeq RNA:NM_030664, UCSC Genome Browser:NM_030664, UniProtKB:Q96BW5 No chr10 16478942 16555744 16436943 16517962 +PA134864129 256297 HGNC:23734 ENSG00000168267 pancreas associated transcription factor 1a PTF1A pancreas specific transcription factor, 1a PTF1-p48, bHLHa29, p48 Yes No Comparative Toxicogenomics Database:256297, Ensembl:ENSG00000168267, GeneCard:PTF1A, HGNC:HGNC:23734, ModBase:Q7RTS3, NCBI Gene:256297, OMIM:607194, OMIM:609069, RefSeq DNA:NG_009798, RefSeq DNA:NT_008705, RefSeq Protein:NP_835455, RefSeq RNA:NM_178161, UniProtKB:Q7RTS3 No chr10 23481460 23483181 23192531 23194252 +PA285 5729 HGNC:9591 ENSG00000168229 prostaglandin D2 receptor PTGDR prostaglandin D2 receptor (DP) DP, DP1, PTGDR1 Yes No Comparative Toxicogenomics Database:5729, Ensembl:ENSG00000168229, GenAtlas:PTGDR, GeneCard:PTGDR, HGNC:HGNC:9591, HumanCyc Gene:HS09712, IUPHAR Receptor:338, ModBase:Q13258, NCBI Gene:5729, OMIM:604687, OMIM:607277, RefSeq DNA:NG_012118, RefSeq DNA:NT_026437, RefSeq Protein:NP_000944, RefSeq RNA:NM_000953, UCSC Genome Browser:NM_000953, UniProtKB:Q13258 No chr14 52734310 52743808 52267256 52280914 +PA28891 11251 HGNC:4502 ENSG00000183134 prostaglandin D2 receptor 2 PTGDR2 chemoattractant receptor homologous molecule expressed on T helper type 2 cells CD294, CRTH2, DP2, GPR44 Yes No Comparative Toxicogenomics Database:11251, Ensembl:ENSG00000183134, GenAtlas:GPR44, GeneCard:GPR44, HGNC:HGNC:4502, IUPHAR Receptor:339, ModBase:Q9Y5Y4, NCBI Gene:11251, OMIM:604837, RefSeq DNA:NG_016170, RefSeq DNA:NT_167190, RefSeq Protein:NP_004769, RefSeq RNA:NM_004778, UCSC Genome Browser:NM_004778, UniProtKB:Q9Y5Y4 No chr11 60618398 60623444 60850925 60855971 +PA33945 5730 HGNC:9592 ENSG00000107317 prostaglandin D2 synthase PTGDS lipocalin-type prostaglandin D synthase, prostaglandin D2 synthase 21kDa (brain) L-PGDS, PGDS Yes No Comparative Toxicogenomics Database:5730, Ensembl:ENSG00000107317, GenAtlas:PTGDS, GeneCard:PTGDS, HGNC:HGNC:9592, HumanCyc Gene:HS02989, ModBase:P41222, NCBI Gene:5730, OMIM:176803, RefSeq DNA:NT_024000, RefSeq Protein:NP_000945, RefSeq RNA:NM_000954, UCSC Genome Browser:NM_000954, UniProtKB:P41222 No chr9 139871898 139876194 136977504 136981742 +PA286 5731 HGNC:9593 ENSG00000160951 prostaglandin E receptor 1 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa EP1 Yes No Comparative Toxicogenomics Database:5731, Ensembl:ENSG00000160951, GenAtlas:PTGER1, GeneCard:PTGER1, HGNC:HGNC:9593, HumanCyc Gene:HS08555, IUPHAR Receptor:340, ModBase:P34995, NCBI Gene:5731, OMIM:176802, RefSeq DNA:NT_011295, RefSeq Protein:NP_000946, RefSeq RNA:NM_000955, UCSC Genome Browser:NM_000955, UniProtKB:P34995 No chr19 14583278 14586174 14472466 14475362 +PA287 5732 HGNC:9594 ENSG00000125384 prostaglandin E receptor 2 PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa EP2 Yes Yes Comparative Toxicogenomics Database:5732, Ensembl:ENSG00000125384, GenAtlas:PTGER2, GeneCard:PTGER2, HGNC:HGNC:9594, HumanCyc Gene:HS04879, IUPHAR Receptor:341, ModBase:P43116, NCBI Gene:5732, OMIM:176804, OMIM:208550, RefSeq DNA:NG_013082, RefSeq DNA:NT_026437, RefSeq Protein:NP_000947, RefSeq RNA:NM_000956, UCSC Genome Browser:NM_000956, UniProtKB:P43116 No chr14 52781016 52795324 52314298 52328606 +PA288 5733 HGNC:9595 ENSG00000050628 prostaglandin E receptor 3 PTGER3 prostaglandin E receptor 3 (subtype EP3) EP3, lnc003875 Yes Yes Comparative Toxicogenomics Database:5733, Ensembl:ENSG00000050628, GenAtlas:PTGER3, GeneCard:PTGER3, HGNC:HGNC:9595, HumanCyc Gene:HS00636, IUPHAR Receptor:342, ModBase:P43115, NCBI Gene:5733, OMIM:176806, RefSeq DNA:NT_032977, RefSeq Protein:NP_000948, RefSeq Protein:NP_001119516, RefSeq Protein:NP_942005, RefSeq Protein:NP_942006, RefSeq Protein:NP_942007, RefSeq Protein:NP_942008, RefSeq Protein:NP_942009, RefSeq Protein:NP_942010, RefSeq Protein:NP_942011, RefSeq Protein:NP_942012, RefSeq RNA:NM_000957, RefSeq RNA:NM_001126044, RefSeq RNA:NM_198712, RefSeq RNA:NM_198713, RefSeq RNA:NM_198714, RefSeq RNA:NM_198715, RefSeq RNA:NM_198716, RefSeq RNA:NM_198717, RefSeq RNA:NM_198718, RefSeq RNA:NM_198719, RefSeq RNA:NR_028292, RefSeq RNA:NR_028293, RefSeq RNA:NR_028294, UCSC Genome Browser:NM_000957, UniProtKB:B1AK19, UniProtKB:O00325, UniProtKB:P43115 No chr1 71318036 71513497 70852353 71047814 +PA289 5734 HGNC:9596 ENSG00000171522 prostaglandin E receptor 4 PTGER4 prostaglandin E receptor 4 (subtype EP4) EP4 Yes Yes Comparative Toxicogenomics Database:5734, Ensembl:ENSG00000171522, GenAtlas:PTGER4, GeneCard:PTGER4, HGNC:HGNC:9596, HumanCyc Gene:HS10332, IUPHAR Receptor:343, ModBase:P35408, NCBI Gene:5734, OMIM:601586, RefSeq DNA:NT_006576, RefSeq Protein:NP_000949, RefSeq RNA:NM_000958, UCSC Genome Browser:NM_000958, UniProtKB:A0PJF5, UniProtKB:P35408 No chr5 40680032 40696962 40679930 40740932 +PA33946 5735 HGNC:9597 prostaglandin E receptor 4 (subtype EP4) pseudogene 1 PTGER4P1 Yes No GenAtlas:PTGER4P1, GeneCard:PTGER4P1, HGNC:HGNC:9597, NCBI Gene:5735 No chr9 45362482 45362931 41279459 41279908 +PA33947 442421 HGNC:9598 ENSG00000184523 prostaglandin E receptor 4 (subtype EP4) pseudogene 2 PTGER4P2 Yes No Ensembl:ENSG00000184523, GenAtlas:PTGER4P2, GeneCard:PTGER4P2, HGNC:HGNC:9598, NCBI Gene:442421 No chr9 66494269 66503030 62838445 62847206 +PA165586232 100874378 HGNC:38498 ENSG00000239684 prostaglandin E receptor 4 (subtype EP4) pseudogene 3 PTGER4P3 Yes No Ensembl:ENSG00000239684, HGNC:HGNC:38498, NCBI Gene:100874378 No chr9 68371630 68372011 63775896 63776277 +PA33948 9536 HGNC:9599 ENSG00000148344 prostaglandin E synthase PTGES MGST1-like 1, glutathione S-transferase 1-like 1, microsomal glutathione S-transferase 1-like 1, microsomal prostaglandin E synthase-1, p53-induced gene 12, tumor protein p53 inducible protein 12 MGST-IV, MGST1-L1, MGST1L1, PIG12, TP53I12 Yes Yes Comparative Toxicogenomics Database:9536, Ensembl:ENSG00000148344, GenAtlas:PTGES, GeneCard:PTGES, HGNC:HGNC:9599, HumanCyc Gene:HS07518, ModBase:O14684, NCBI Gene:9536, OMIM:605172, RefSeq DNA:NT_008470, RefSeq Protein:NP_004869, RefSeq RNA:NM_004878, UCSC Genome Browser:NM_004878, UniProtKB:O14684, UniProtKB:Q5SZC0 No chr9 132500615 132515344 129738336 129777579 +PA33949 80142 HGNC:17822 ENSG00000148334 prostaglandin E synthase 2 PTGES2 C9orf15, FLJ14038 Yes No Comparative Toxicogenomics Database:80142, Ensembl:ENSG00000148334, GenAtlas:PTGES2, GeneCard:PTGES2, HGNC:HGNC:17822, HumanCyc Gene:HS07514, ModBase:Q9H7Z7, NCBI Gene:80142, OMIM:608152, RefSeq DNA:NG_012488, RefSeq DNA:NT_008470, RefSeq Protein:NP_079348, RefSeq Protein:NP_945176, RefSeq Protein:NP_945178, RefSeq RNA:NM_025072, RefSeq RNA:NM_198938, RefSeq RNA:NM_198940, RefSeq RNA:NR_027811, RefSeq RNA:NR_027812, UCSC Genome Browser:NM_025072, UniProtKB:Q9H7Z7 No chr9 130882972 130890741 128120693 128128462 +PA142671118 10728 HGNC:16049 ENSG00000110958 prostaglandin E synthase 3 PTGES3 prostaglandin E synthase 3 (cytosolic) TEBP, cPGES, p23 Yes No Comparative Toxicogenomics Database:10728, Ensembl:ENSG00000110958, GeneCard:PTGES3, HGNC:HGNC:16049, HumanCyc Gene:HS03359, ModBase:Q15185, NCBI Gene:10728, OMIM:607061, RefSeq DNA:NT_029419, RefSeq Protein:NP_006592, RefSeq RNA:NM_006601, UniProtKB:Q15185 No chr12 57057125 57082138 56663341 56689250 +PA166049103 100885848 HGNC:43943 ENSG00000267060 prostaglandin E synthase 3 like PTGES3L prostaglandin E synthase 3 (cytosolic)-like Yes No Ensembl:ENSG00000267060, HGNC:HGNC:43943, NCBI Gene:100885848 No chr17 41120105 41132545 42968088 42980528 +PA290 5737 HGNC:9600 ENSG00000122420 prostaglandin F receptor PTGFR FP prostanoid receptor, prostaglandin F receptor (FP) FP Yes Yes Comparative Toxicogenomics Database:5737, Ensembl:ENSG00000122420, GenAtlas:PTGFR, GeneCard:PTGFR, HGNC:HGNC:9600, HumanCyc Gene:HS04569, IUPHAR Receptor:344, ModBase:P43088, NCBI Gene:5737, OMIM:600563, RefSeq DNA:NT_032977, RefSeq Protein:NP_000950, RefSeq Protein:NP_001034674, RefSeq RNA:NM_000959, RefSeq RNA:NM_001039585, UCSC Genome Browser:NM_000959, UniProtKB:P43088, UniProtKB:Q6RYQ6 No chr1 78956728 79006386 78490974 78540701 +PA33950 5738 HGNC:9601 ENSG00000134247 prostaglandin F2 receptor inhibitor PTGFRN CD315, CD9P-1, EWI-F, FLJ11001, FPRP, KIAA1436, SMAP-6 Yes No Comparative Toxicogenomics Database:5738, Ensembl:ENSG00000134247, GenAtlas:PTGFRN, GeneCard:PTGFRN, HGNC:HGNC:9601, HumanCyc Gene:HS13515, ModBase:Q9P2B2, NCBI Gene:5738, OMIM:601204, RefSeq DNA:NT_032977, RefSeq Protein:NP_065173, RefSeq RNA:NM_020440, UniProtKB:Q9P2B2 No chr1 117452689 117532972 116909923 116990358 +PA291 5739 HGNC:9602 ENSG00000160013 prostaglandin I2 receptor PTGIR prostacyclin receptor, prostaglandin I2 (prostacyclin) receptor (IP) IP Yes Yes Comparative Toxicogenomics Database:5739, Ensembl:ENSG00000160013, GenAtlas:PTGIR, GeneCard:PTGIR, HGNC:HGNC:9602, HumanCyc Gene:HS08439, IUPHAR Receptor:345, ModBase:P43119, NCBI Gene:5739, OMIM:600022, RefSeq DNA:NT_011109, RefSeq Protein:NP_000951, RefSeq RNA:NM_000960, UCSC Genome Browser:NM_000960, UniProtKB:P43119 No chr19 47114585 47128375 46610040 46625118 +PA292 5740 HGNC:9603 ENSG00000124212 prostaglandin I2 synthase PTGIS """cytochrome P450, family 8, subfamily A, polypeptide 1"", ""prostacyclin synthase"", ""prostaglandin I2 (prostacyclin) synthase""" CYP8A1, PGIS Yes No Comparative Toxicogenomics Database:5740, Ensembl:ENSG00000124212, GenAtlas:PTGIS, GeneCard:PTGIS, HGNC:HGNC:9603, HumanCyc Gene:HS04738, ModBase:Q16647, NCBI Gene:5740, OMIM:145500, OMIM:601699, RefSeq DNA:NG_007940, RefSeq DNA:NT_011362, RefSeq Protein:NP_000952, RefSeq RNA:NM_000961, UCSC Genome Browser:NM_000961, UniProtKB:Q16647, URL:http://www.imm.ki.se/CYPalleles/cyp8a1.htm No chr20 48120411 48184707 49503874 49568170 +PA162400322 22949 HGNC:18429 ENSG00000106853 prostaglandin reductase 1 PTGR1 zinc binding alcohol dehydrogenase domain containing 3 LTB4DH, ZADH3 Yes No Ensembl:ENSG00000106853, GeneCard:PTGR1, HGNC:HGNC:18429, HumanCyc Gene:HS02959, ModBase:Q14914, NCBI Gene:22949, OMIM:601274, RefSeq DNA:NT_008470, RefSeq Protein:NP_001139580, RefSeq Protein:NP_001139581, RefSeq Protein:NP_036344, RefSeq RNA:NM_001146108, RefSeq RNA:NM_001146109, RefSeq RNA:NM_012212, UniProtKB:B4DPK3, UniProtKB:Q14914 No chr9 114312002 114362135 111549722 111599855 +PA162400323 145482 HGNC:20149 ENSG00000140043 prostaglandin reductase 2 PTGR2 FLJ39091, ZADH1 Yes No Ensembl:ENSG00000140043, GeneCard:PTGR2, HGNC:HGNC:20149, HumanCyc Gene:HS06681, ModBase:Q8N8N7, NCBI Gene:145482, OMIM:608642, RefSeq DNA:NT_026437, RefSeq Protein:NP_001139626, RefSeq Protein:NP_001139627, RefSeq Protein:NP_689657, RefSeq RNA:NM_001146154, RefSeq RNA:NM_001146155, RefSeq RNA:NM_152444, UniProtKB:Q8N8N7 No chr14 74318534 74352168 73851831 73885465 +PA166352061 284273 HGNC:28697 prostaglandin reductase 3 PTGR3 prostaglandin reductase-3 MGC45594, PTGR-3, ZADH2 Yes No HGNC:HGNC:28697, NCBI Gene:284273 No 0 0 0 0 +PA24346 5742 HGNC:9604 ENSG00000095303 prostaglandin-endoperoxide synthase 1 PTGS1 cyclooxygenase-1, prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) COX1, PGHS-1, PTGHS Yes Yes Comparative Toxicogenomics Database:5742, Ensembl:ENSG00000095303, GenAtlas:PTGS1, GeneCard:PTGS1, HGNC:HGNC:9604, HumanCyc Gene:HS01815, ModBase:P23219, NCBI Gene:5742, OMIM:176805, RefSeq DNA:NT_008470, RefSeq Protein:NP_000953, RefSeq Protein:NP_542158, RefSeq RNA:NM_000962, RefSeq RNA:NM_080591, UCSC Genome Browser:NM_000962, UniProtKB:P23219 No chr9 125132809 125157982 122369906 122395703 +PA293 5743 HGNC:9605 ENSG00000073756 prostaglandin-endoperoxide synthase 2 PTGS2 cyclooxygenase 2, prostaglandin G/H synthase 2, prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) COX2 Yes Yes Comparative Toxicogenomics Database:5743, Ensembl:ENSG00000073756, GenAtlas:PTGS2, GeneCard:PTGS2, HGNC:HGNC:9605, HumanCyc Gene:HS01115, ModBase:P35354, NCBI Gene:5743, OMIM:600262, RefSeq DNA:NT_004487, RefSeq Protein:NP_000954, RefSeq RNA:NM_000963, UCSC Genome Browser:NM_000963, UniProtKB:P35354 No chr1 186640944 186649559 186671812 186680427 +PA33951 5741 HGNC:9606 ENSG00000152266 parathyroid hormone PTH parathormone, parathyrin, parathyroid hormone 1, prepro-PTH, preproparathyroid hormone PTH1 Yes Yes Comparative Toxicogenomics Database:5741, Ensembl:ENSG00000152266, GenAtlas:PTH, GeneCard:PTH, HGNC:HGNC:9606, HumanCyc Gene:HS07802, ModBase:P01270, NCBI Gene:5741, OMIM:146200, OMIM:168450, RefSeq DNA:NG_008962, RefSeq DNA:NT_009237, RefSeq Protein:NP_000306, RefSeq RNA:NM_000315, UCSC Genome Browser:NM_000315, UniProtKB:P01270 No chr11 13513601 13517567 13492045 13496175 +PA33953 5745 HGNC:9608 ENSG00000160801 parathyroid hormone 1 receptor PTH1R PTHR, PTHR1 Yes Yes Comparative Toxicogenomics Database:5745, Ensembl:ENSG00000160801, GenAtlas:PTHR1, GeneCard:PTH1R, GeneCard:PTHR1, HGNC:HGNC:9608, HumanCyc Gene:HS08537, IUPHAR Receptor:331, NCBI Gene:5745, OMIM:125350, OMIM:156400, OMIM:166000, OMIM:168468, OMIM:215045, OMIM:600002, RefSeq DNA:NG_008864, RefSeq DNA:NT_022517, RefSeq Protein:NP_000307, RefSeq Protein:NP_001171673, RefSeq RNA:NM_000316, RefSeq RNA:NM_001184744, UCSC Genome Browser:NM_000316, UniProtKB:Q03431 No chr3 46919236 46945289 46877690 46903799 +PA162400324 113091 HGNC:30828 ENSG00000142538 parathyroid hormone 2 PTH2 tuberoinfundibular 39 residues TIP39 Yes No Ensembl:ENSG00000142538, GeneCard:PTH2, HGNC:HGNC:30828, NCBI Gene:113091, OMIM:608386, RefSeq DNA:NT_011109, RefSeq Protein:NP_848544, RefSeq RNA:NM_178449, UniProtKB:Q96A98 No chr19 49925671 49926698 49422414 49423441 +PA162400333 5746 HGNC:9609 ENSG00000144407 parathyroid hormone 2 receptor PTH2R PTHR2 Yes No Ensembl:ENSG00000144407, GeneCard:PTH2R, HGNC:HGNC:9609, HumanCyc Gene:HS07172, IUPHAR Receptor:332, ModBase:P49190, NCBI Gene:5746, OMIM:601469, RefSeq DNA:NT_005403, RefSeq Protein:NP_005039, RefSeq RNA:NM_005048, UniProtKB:P49190 No chr2 209224569 209359231 208359845 208494506 +PA33952 5744 HGNC:9607 ENSG00000087494 parathyroid hormone like hormone PTHLH osteostatin, parathyroid hormone-like hormone, parathyroid hormone-like hormone preproprotein, parathyroid hormone-related protein preproprotein HHM, PLP, PTHR, PTHRP Yes No Comparative Toxicogenomics Database:5744, Ensembl:ENSG00000087494, GenAtlas:PTHLH, GeneCard:PTHLH, HGNC:HGNC:9607, HumanCyc Gene:HS01579, ModBase:P12272, NCBI Gene:5744, OMIM:168470, OMIM:613382, RefSeq DNA:NG_023197, RefSeq DNA:NT_009714, RefSeq Protein:NP_002811, RefSeq Protein:NP_945315, RefSeq Protein:NP_945316, RefSeq Protein:NP_945317, RefSeq RNA:NM_002820, RefSeq RNA:NM_198964, RefSeq RNA:NM_198965, RefSeq RNA:NM_198966, UCSC Genome Browser:NM_002820, UniProtKB:P12272, UniProtKB:Q53XY9 No chr12 28111017 28125664 27958084 27974187 +PA33955 5747 HGNC:9611 ENSG00000169398 protein tyrosine kinase 2 PTK2 protein phosphatase 1, regulatory subunit 71 FADK, FAK, FAK1, PPP1R71 Yes No Comparative Toxicogenomics Database:5747, Ensembl:ENSG00000169398, GenAtlas:PTK2, GeneCard:PTK2, HGNC:HGNC:9611, HumanCyc Gene:HS09940, ModBase:Q05397, NCBI Gene:5747, OMIM:600758, RefSeq DNA:NT_008046, RefSeq Protein:NP_001186578, RefSeq Protein:NP_005598, RefSeq Protein:NP_722560, RefSeq RNA:NM_001199649, RefSeq RNA:NM_005607, RefSeq RNA:NM_153831, UCSC Genome Browser:NM_005607, UniProtKB:Q05397, UniProtKB:Q658W2, UniProtKB:Q8IYN9 No chr8 141668481 142011412 140658382 141001313 +PA33956 2185 HGNC:9612 ENSG00000120899 protein tyrosine kinase 2 beta PTK2B CADTK, CAKB, FAK2, PTK, PYK2, RAFTK Yes No Comparative Toxicogenomics Database:2185, Ensembl:ENSG00000120899, GenAtlas:PTK2B, GeneCard:PTK2B, HGNC:HGNC:9612, HumanCyc Gene:HS04447, ModBase:Q14289, NCBI Gene:2185, OMIM:601212, RefSeq DNA:NT_167187, RefSeq Protein:NP_004094, RefSeq Protein:NP_775266, RefSeq Protein:NP_775267, RefSeq Protein:NP_775268, RefSeq RNA:NM_004103, RefSeq RNA:NM_173174, RefSeq RNA:NM_173175, RefSeq RNA:NM_173176, UCSC Genome Browser:NM_004103, UniProtKB:Q14289, UniProtKB:Q6PID4 No chr8 27168999 27316908 27311482 27459391 +PA33960 5753 HGNC:9617 ENSG00000101213 protein tyrosine kinase 6 PTK6 BRK Yes No Comparative Toxicogenomics Database:5753, Ensembl:ENSG00000101213, GenAtlas:PTK6, GeneCard:PTK6, HGNC:HGNC:9617, HumanCyc Gene:HS02221, ModBase:Q13882, NCBI Gene:5753, OMIM:602004, RefSeq DNA:NT_011333, RefSeq Protein:NP_005966, RefSeq RNA:NM_005975, UCSC Genome Browser:NM_005975, UniProtKB:Q13882 No chr20 62159766 62168723 63528413 63537370 +PA33961 5754 HGNC:9618 ENSG00000112655 protein tyrosine kinase 7 (inactive) PTK7 colon carcinoma kinase 4, protein tyrosine kinase 7 CCK4 Yes No Ensembl:ENSG00000112655, GenAtlas:PTK7, GeneCard:PTK7, HGNC:HGNC:9618, HumanCyc Gene:HS03599, ModBase:Q13308, NCBI Gene:5754, OMIM:601890, RefSeq DNA:NT_007592, RefSeq Protein:NP_002812, RefSeq Protein:NP_690619, RefSeq Protein:NP_690620, RefSeq Protein:NP_690621, RefSeq RNA:NM_002821, RefSeq RNA:NM_152880, RefSeq RNA:NM_152881, RefSeq RNA:NM_152882, UCSC Genome Browser:NM_002821, UniProtKB:Q13308 No chr6 43044006 43129458 43076268 43161720 +PA33966 5757 HGNC:9623 ENSG00000187514 prothymosin alpha PTMA """gene sequence 28"", ""prothymosin, alpha"", ""prothymosin-a"", ""prothymosin-α"", ""prothymosin-α""" TMSA Yes No Comparative Toxicogenomics Database:5757, Ensembl:ENSG00000187514, GenAtlas:PTMA, GeneCard:PTMA, HGNC:HGNC:9623, ModBase:P06454, NCBI Gene:5757, OMIM:188390, RefSeq DNA:NT_005403, RefSeq Protein:NP_001092755, RefSeq Protein:NP_002814, RefSeq RNA:NM_001099285, RefSeq RNA:NM_002823, UCSC Genome Browser:NM_002823, UniProtKB:P06454, UniProtKB:Q53S24 No chr2 232573235 232578251 231708525 231713541 +PA33967 5758 HGNC:9624 ENSG00000228415 prothymosin, alpha pseudogene 1 (gene sequence 26) PTMAP1 Em:AB023049.6 Yes No Ensembl:ENSG00000228415, GenAtlas:PTMAP1, GeneCard:PTMAP1, HGNC:HGNC:9624, NCBI Gene:5758, RefSeq DNA:NG_004833, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 30601227 30603014 30633450 30635237 +PA33968 5759 HGNC:9625 ENSG00000197744 prothymosin, alpha pseudogene 2 (gene sequence 32) PTMAP2 Yes No Ensembl:ENSG00000197744, GenAtlas:PTMAP2, GeneCard:PTMAP2, HGNC:HGNC:9625, NCBI Gene:5759, RefSeq DNA:NG_002765, RefSeq DNA:NT_034772 No chr5 118309257 118310515 118973562 118974820 +PA33969 5760 HGNC:9626 ENSG00000218902 prothymosin, alpha pseudogene 3 (gene sequence 34) PTMAP3 Yes No Ensembl:ENSG00000218902, GenAtlas:PTMAP3, GeneCard:PTMAP3, HGNC:HGNC:9626, NCBI Gene:5760, RefSeq DNA:NG_001180, RefSeq DNA:NT_011387 No chr20 17992436 17993701 18011792 18013057 +PA33970 5761 HGNC:9627 ENSG00000231503 prothymosin, alpha pseudogene 4 (gene sequence 112) PTMAP4 Yes No Ensembl:ENSG00000231503, GenAtlas:PTMAP4, GeneCard:PTMAP4, HGNC:HGNC:9627, NCBI Gene:5761, RefSeq DNA:NG_001181, RefSeq DNA:NT_009714 No chr12 9391909 9393092 9239326 9240496 +PA33971 150928 HGNC:9628 ENSG00000214182 prothymosin, alpha pseudogene 5 PTMAP5 gene sequence 150 Yes No Ensembl:ENSG00000214182, GenAtlas:PTMAP5, GeneCard:PTMAP5, HGNC:HGNC:9628, NCBI Gene:150928, RefSeq DNA:NG_004798, RefSeq DNA:NG_005102, RefSeq DNA:NT_024524 No chr13 82264031 82265215 81689896 81691080 +PA33972 170542 HGNC:16573 ENSG00000237000 prothymosin, alpha pseudogene 6 PTMAP6 dJ539E24.2 Yes No Ensembl:ENSG00000237000, GenAtlas:PTMAP6, GeneCard:PTMAP6, HGNC:HGNC:16573, NCBI Gene:170542, RefSeq DNA:NG_001051, RefSeq DNA:NT_011362 No chr20 55276401 55276570 56701345 56701514 +PA134896773 326626 HGNC:20031 prothymosin, alpha pseudogene 7 PTMAP7 Yes No GeneCard:PTMAP7, HGNC:HGNC:20031, NCBI Gene:326626, RefSeq DNA:NG_002608, RefSeq DNA:NT_026437 No chr14 92492766 92493911 92026422 92027567 +PA33973 5763 HGNC:9629 ENSG00000159335 parathymosin PTMS ParaT Yes No Comparative Toxicogenomics Database:5763, Ensembl:ENSG00000159335, GenAtlas:PTMS, GeneCard:PTMS, HGNC:HGNC:9629, HumanCyc Gene:HS08388, ModBase:P20962, NCBI Gene:5763, OMIM:168440, RefSeq DNA:NT_009759, RefSeq Protein:NP_002815, RefSeq RNA:NM_002824, UCSC Genome Browser:NM_002824, UniProtKB:P20962 No chr12 6875255 6880118 6766139 6770952 +PA33974 5764 HGNC:9630 ENSG00000105894 pleiotrophin PTN heparin binding growth factor 8 HBGF8, HBNF, NEGF1 Yes No Comparative Toxicogenomics Database:5764, Ensembl:ENSG00000105894, GenAtlas:PTN, GeneCard:PTN, HGNC:HGNC:9630, HumanCyc Gene:HS02828, ModBase:P21246, NCBI Gene:5764, OMIM:162095, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_002816, RefSeq RNA:NM_002825, UCSC Genome Browser:NM_002825, UniProtKB:P21246 No chr7 136912088 137028606 137227341 137343865 +PA33976 53635 HGNC:9632 ENSG00000104960 PTOV1 extended AT-hook containing adaptor protein PTOV1 """PTOV1, extended AT-hook containing adaptor protein"", ""prostate tumor overexpressed 1""" Yes No Ensembl:ENSG00000104960, GenAtlas:PTOV1, GeneCard:PTOV1, HGNC:HGNC:9632, HumanCyc Gene:HS02662, ModBase:Q86YD1, NCBI Gene:53635, OMIM:610195, RefSeq DNA:NT_011109, RefSeq Protein:NP_059128, RefSeq RNA:NM_017432, UCSC Genome Browser:NM_017432, UniProtKB:Q86YD1 No chr19 50353667 50363999 49850726 49860744 +PA33977 7803 HGNC:9634 ENSG00000112245 protein tyrosine phosphatase 4A1 PTP4A1 """phosphatase of regenerating liver 1"", ""protein tyrosine phosphatase type IVA, member 1""" PRL-1, PRL1, PTPCAAX1 Yes No Comparative Toxicogenomics Database:7803, Ensembl:ENSG00000112245, GenAtlas:PTP4A1, GeneCard:PTP4A1, HGNC:HGNC:9634, HumanCyc Gene:HS03541, ModBase:Q93096, NCBI Gene:7803, OMIM:601585, RefSeq DNA:NT_007299, RefSeq Protein:NP_003454, RefSeq RNA:NM_003463, UCSC Genome Browser:NM_003463, UniProtKB:Q93096 No chr6 64281917 64293493 63528021 63583588 +PA33978 8073 HGNC:9635 ENSG00000184007 protein tyrosine phosphatase 4A2 PTP4A2 """phosphatase of regenerating liver 2"", ""protein tyrosine phosphatase type IVA, member 2""" HU-PP-1, OV-1, PRL-2, PRL2, PTP4A, PTPCAAX2, ptp-IV1a Yes No Ensembl:ENSG00000184007, GenAtlas:PTP4A2, GeneCard:PTP4A2, HGNC:HGNC:9635, ModBase:Q12974, NCBI Gene:8073, OMIM:601584, RefSeq DNA:NT_032977, RefSeq Protein:NP_001182029, RefSeq Protein:NP_001182030, RefSeq Protein:NP_536316, RefSeq Protein:NP_536317, RefSeq RNA:NM_001195100, RefSeq RNA:NM_001195101, RefSeq RNA:NM_080391, RefSeq RNA:NM_080392, UCSC Genome Browser:NM_003479, UniProtKB:Q12974 No chr1 32372022 32403988 31906421 31942635 +PA33980 5767 HGNC:9637 ENSG00000267185 protein tyrosine phosphatase type IVA, member 2 pseudogene 1 PTP4A2P1 h-PRL-1 Yes No Ensembl:ENSG00000267185, GenAtlas:PTP4AP1, GeneCard:PTP4A2P1, HGNC:HGNC:9637, NCBI Gene:5767, RefSeq DNA:NG_004085, RefSeq DNA:NT_010755, RefSeq DNA:NT_010783 No chr17 40685151 40686232 42533133 42534214 +PA33981 5769 HGNC:9638 ENSG00000254481 protein tyrosine phosphatase type IVA, member 2 pseudogene 2 PTP4A2P2 Yes No Ensembl:ENSG00000254481, GenAtlas:PTP4AP2, GeneCard:PTP4A2P2, HGNC:HGNC:9638, NCBI Gene:5769, RefSeq DNA:NG_001182, RefSeq DNA:NT_033899 No chr11 133993322 133995113 134123427 134125218 +PA33979 11156 HGNC:9636 ENSG00000184489 protein tyrosine phosphatase 4A3 PTP4A3 """phosphatase of regenerating liver 3"", ""protein tyrosine phosphatase type IVA, member 3""" PRL-3, PRL-R, PRL3 Yes No Comparative Toxicogenomics Database:11156, Ensembl:ENSG00000184489, GenAtlas:PTP4A3, GeneCard:PTP4A3, HGNC:HGNC:9636, HumanCyc Gene:HS00003, ModBase:O75365, NCBI Gene:11156, OMIM:606449, RefSeq DNA:NT_008046, RefSeq Protein:NP_009010, RefSeq Protein:NP_116000, RefSeq RNA:NM_007079, RefSeq RNA:NM_032611, UCSC Genome Browser:NM_007079, UniProtKB:O75365 No chr8 142402093 142442554 141391993 141432454 +PA33671 5524 HGNC:9308 ENSG00000119383 protein phosphatase 2 phosphatase activator PTPA """PP2A phosphatase activator"", ""phosphotyrosyl phosphatase activator"", ""protein phosphatase 2A activator, regulatory subunit 4""" PPP2R4, PR53, PTPA Yes No Comparative Toxicogenomics Database:5524, Ensembl:ENSG00000119383, GenAtlas:PPP2R4, GeneCard:PPP2R4, HGNC:HGNC:9308, HumanCyc Gene:HS04286, ModBase:Q9NNZ9, NCBI Gene:5524, OMIM:600756, RefSeq DNA:NT_008470, RefSeq Protein:NP_001180326, RefSeq Protein:NP_066954, RefSeq Protein:NP_821067, RefSeq Protein:NP_821068, RefSeq Protein:NP_821070, RefSeq RNA:NM_001193397, RefSeq RNA:NM_021131, RefSeq RNA:NM_178000, RefSeq RNA:NM_178001, RefSeq RNA:NM_178003, UCSC Genome Browser:NM_021131, UniProtKB:Q15257 No chr9 131873183 131911225 129110949 129148946 +PA134940207 138639 HGNC:30184 ENSG00000158079 protein tyrosine phosphatase domain containing 1 PTPDC1 protein tyrosine phosphatase PTP9Q22 FLJ37312, PTP9Q22 Yes No Ensembl:ENSG00000158079, GeneCard:PTPDC1, HGNC:HGNC:30184, HumanCyc Gene:HS08265, ModBase:A2A3K4, NCBI Gene:138639, RefSeq DNA:NT_008470, RefSeq Protein:NP_689635, RefSeq Protein:NP_818931, RefSeq RNA:NM_152422, RefSeq RNA:NM_177995, UniProtKB:A2A3K4 No chr9 96793076 96872138 94030591 94109856 +PA142671115 114971 HGNC:26965 ENSG00000110536 protein tyrosine phosphatase mitochondrial 1 PTPMT1 """PTEN-like phosphatase"", ""phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1"", ""protein tyrosine phosphatase, mitochondrial 1""" DUSP23, MOSP, PLIP Yes No Comparative Toxicogenomics Database:114971, Ensembl:ENSG00000110536, GeneCard:PTPMT1, HGNC:HGNC:26965, ModBase:Q8WUK0, NCBI Gene:114971, OMIM:609538, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137456, RefSeq Protein:NP_783859, RefSeq RNA:NM_001143984, RefSeq RNA:NM_175732, UniProtKB:Q8WUK0 No chr11 47586888 47595013 47565430 47573461 +PA33985 5770 HGNC:9642 ENSG00000196396 protein tyrosine phosphatase non-receptor type 1 PTPN1 protein tyrosine phosphatase, non-receptor type 1 PTP1B Yes No Comparative Toxicogenomics Database:5770, Ensembl:ENSG00000196396, GenAtlas:PTPN1, GeneCard:PTPN1, HGNC:HGNC:9642, HumanCyc Gene:HS00788, ModBase:P18031, NCBI Gene:5770, OMIM:125853, OMIM:176885, RefSeq DNA:NG_012119, RefSeq DNA:NT_011362, RefSeq Protein:NP_002818, RefSeq RNA:NM_002827, UCSC Genome Browser:NM_002827, UniProtKB:A8K3M3, UniProtKB:P18031 No chr20 49126858 49201299 50510321 50584762 +PA33986 5781 HGNC:9644 ENSG00000179295 protein tyrosine phosphatase non-receptor type 11 PTPN11 """SH2 domain-containing protein tyrosine phosphatase 2"", ""protein tyrosine phosphatase, non-receptor type 11""" BPTP3, NS1, PTP2C, SH-PTP2, SHP-2, SHP2 Yes No Comparative Toxicogenomics Database:5781, Ensembl:ENSG00000179295, GenAtlas:PTPN11, GeneCard:PTPN11, HGNC:HGNC:9644, HumanCyc Gene:HS01636, ModBase:Q06124, NCBI Gene:5781, OMIM:151100, OMIM:163950, OMIM:163955, OMIM:176876, OMIM:607785, RefSeq DNA:NG_007459, RefSeq DNA:NT_009775, RefSeq Protein:NP_002825, RefSeq RNA:NM_002834, UCSC Genome Browser:NM_002834, UniProtKB:Q06124 No chr12 112856536 112947717 112418732 112509913 +PA33987 5782 HGNC:9645 ENSG00000127947 protein tyrosine phosphatase non-receptor type 12 PTPN12 protein tyrosine phosphatase, non-receptor type 12 PTP-PEST, PTPG1 Yes No Comparative Toxicogenomics Database:5782, Ensembl:ENSG00000127947, GenAtlas:PTPN12, GeneCard:PTPN12, HGNC:HGNC:9645, HumanCyc Gene:HS05139, ModBase:Q05209, NCBI Gene:5782, OMIM:600079, RefSeq DNA:NG_008394, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001124480, RefSeq Protein:NP_001124481, RefSeq Protein:NP_002826, RefSeq RNA:NM_001131008, RefSeq RNA:NM_001131009, RefSeq RNA:NM_002835, UCSC Genome Browser:NM_002835, UniProtKB:A4D1C5, UniProtKB:B4DKY2, UniProtKB:B4E105, UniProtKB:Q05209 No chr7 77166773 77269388 77537160 77640071 +PA33988 5783 HGNC:9646 ENSG00000163629 protein tyrosine phosphatase non-receptor type 13 PTPN13 """APO-1/CD95 (Fas)-associated phosphatase"", ""protein tyrosine phosphatase, non-receptor type 13"", ""protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)""" PTP-BAS, PTP-BL, PTP1E, PTPL1 Yes No Comparative Toxicogenomics Database:5783, Ensembl:ENSG00000163629, GenAtlas:PTPN13, GeneCard:PTPN13, HGNC:HGNC:9646, HumanCyc Gene:HS08898, ModBase:Q8IWH7, NCBI Gene:5783, OMIM:600267, RefSeq DNA:NT_016354, RefSeq Protein:NP_006255, RefSeq Protein:NP_542414, RefSeq Protein:NP_542415, RefSeq Protein:NP_542416, RefSeq RNA:NM_006264, RefSeq RNA:NM_080683, RefSeq RNA:NM_080684, RefSeq RNA:NM_080685, UCSC Genome Browser:NM_006264, UniProtKB:Q12923 No chr4 87515468 87736332 86594307 86815179 +PA33989 5784 HGNC:9647 ENSG00000152104 protein tyrosine phosphatase non-receptor type 14 PTPN14 protein tyrosine phosphatase, non-receptor type 14 PEZ, PTPD2 Yes No Comparative Toxicogenomics Database:5784, Ensembl:ENSG00000152104, GenAtlas:PTPN14, GeneCard:PTPN14, HGNC:HGNC:9647, HumanCyc Gene:HS07792, ModBase:Q15678, NCBI Gene:5784, OMIM:603155, RefSeq DNA:NT_167186, RefSeq Protein:NP_005392, RefSeq RNA:NM_005401, UCSC Genome Browser:NM_005401, UniProtKB:A8K6H6, UniProtKB:Q15678 No chr1 214521640 214725024 214348696 214551681 +PA33991 26469 HGNC:9649 ENSG00000072135 protein tyrosine phosphatase non-receptor type 18 PTPN18 """brain derived phosphatase"", ""protein tyrosine phosphatase, non-receptor type 18"", ""protein tyrosine phosphatase, non-receptor type 18 (brain-derived)""" BDP1 Yes No Comparative Toxicogenomics Database:26469, Ensembl:ENSG00000072135, GenAtlas:PTPN18, GeneCard:PTPN18, HGNC:HGNC:9649, HumanCyc Gene:HS01057, ModBase:Q99952, NCBI Gene:26469, OMIM:606587, RefSeq DNA:NT_022135, RefSeq Protein:NP_001135842, RefSeq Protein:NP_055184, RefSeq RNA:NM_001142370, RefSeq RNA:NM_014369, UCSC Genome Browser:NM_014369, UniProtKB:B4E1E6, UniProtKB:Q99952 No chr2 131113580 131132982 130356007 130375409 +PA33993 5771 HGNC:9650 ENSG00000175354 protein tyrosine phosphatase non-receptor type 2 PTPN2 protein tyrosine phosphatase, non-receptor type 2 PTPT, TC-PTP, TC45, TC48, TCELLPTP, TCPTP Yes Yes Comparative Toxicogenomics Database:5771, Ensembl:ENSG00000175354, GenAtlas:PTPN2, GeneCard:PTPN2, HGNC:HGNC:9650, HumanCyc Gene:HS10919, ModBase:P17706, NCBI Gene:5771, OMIM:176887, RefSeq DNA:NT_010859, RefSeq Protein:NP_001193942, RefSeq Protein:NP_002819, RefSeq Protein:NP_536347, RefSeq Protein:NP_536348, RefSeq RNA:NM_001207013, RefSeq RNA:NM_002828, RefSeq RNA:NM_080422, RefSeq RNA:NM_080423, UCSC Genome Browser:NM_002828, UniProtKB:A8K3N4, UniProtKB:P17706, UniProtKB:Q96AU5 No chr18 12785477 12884337 12785478 12884351 +PA134863260 26095 HGNC:23423 ENSG00000204179 protein tyrosine phosphatase non-receptor type 20 PTPN20 """protein tyrosine phosphatase, non-receptor type 20"", ""protein tyrosine phosphatase, non-receptor type 20B""" CT126, DKFZP566K0524, PTPN20A, PTPN20B, bA142I17.1, bA42B19.1 Yes No Ensembl:ENSG00000204179, GeneCard:PTPN20B, HGNC:HGNC:23423, HumanCyc Gene:HS05028, ModBase:Q5T1G3, NCBI Gene:26095, OMIM:610631, RefSeq DNA:NT_030772, RefSeq Protein:NP_001035816, RefSeq Protein:NP_001035817, RefSeq Protein:NP_001035818, RefSeq Protein:NP_001035819, RefSeq Protein:NP_001035820, RefSeq Protein:NP_001035821, RefSeq Protein:NP_001035822, RefSeq Protein:NP_001035823, RefSeq Protein:NP_001035824, RefSeq Protein:NP_056420, RefSeq RNA:NM_001042357, RefSeq RNA:NM_001042358, RefSeq RNA:NM_001042359, RefSeq RNA:NM_001042360, RefSeq RNA:NM_001042361, RefSeq RNA:NM_001042362, RefSeq RNA:NM_001042363, RefSeq RNA:NM_001042364, RefSeq RNA:NM_001042365, RefSeq RNA:NM_015605, UniProtKB:Q9Y406 No chr10 48737042 48827942 46911134 47003834 +PA134992146 653045 HGNC:23424 ENSG00000278561 protein tyrosine phosphatase, non-receptor type 20C, pseudogene PTPN20CP bA164N7.3 Yes No Ensembl:ENSG00000278561, GeneCard:PTPN20C, HGNC:HGNC:23424, NCBI Gene:653045, RefSeq DNA:NG_005691, RefSeq DNA:NT_030059 No chr10 49299273 49348465 48105157 48140142 +PA33994 11099 HGNC:9651 ENSG00000070778 protein tyrosine phosphatase non-receptor type 21 PTPN21 protein tyrosine phosphatase, non-receptor type 21 PTPD1, PTPRL10 Yes No Comparative Toxicogenomics Database:11099, Ensembl:ENSG00000070778, GenAtlas:PTPN21, GeneCard:PTPN21, HGNC:HGNC:9651, HumanCyc Gene:HS01011, ModBase:Q16825, NCBI Gene:11099, OMIM:603271, RefSeq DNA:NT_026437, RefSeq Protein:NP_008970, RefSeq RNA:NM_007039, UCSC Genome Browser:NM_007039, UniProtKB:Q16825 No chr14 88932122 89021123 88465778 88554779 +PA33995 26191 HGNC:9652 ENSG00000134242 protein tyrosine phosphatase non-receptor type 22 PTPN22 """protein tyrosine phosphatase, non-receptor type 22"", ""protein tyrosine phosphatase, non-receptor type 22 (lymphoid)""" Lyp, Lyp1, Lyp2, PTPN8 Yes Yes Comparative Toxicogenomics Database:26191, Ensembl:ENSG00000134242, GenAtlas:PTPN22, GeneCard:PTPN22, HGNC:HGNC:9652, HumanCyc Gene:HS05837, ModBase:Q9Y2R2, NCBI Gene:26191, OMIM:152700, OMIM:180300, OMIM:222100, OMIM:600716, RefSeq DNA:NG_011432, RefSeq DNA:NT_032977, RefSeq Protein:NP_001180360, RefSeq Protein:NP_036543, RefSeq Protein:NP_057051, RefSeq RNA:NM_001193431, RefSeq RNA:NM_012411, RefSeq RNA:NM_015967, UCSC Genome Browser:NM_012411, UniProtKB:Q9Y2R2 No chr1 114356433 114414375 113813811 113871761 +PA33996 25930 HGNC:14406 ENSG00000076201 protein tyrosine phosphatase non-receptor type 23 PTPN23 protein tyrosine phosphatase, non-receptor type 23 DKFZP564F0923, HD-PTP, KIAA1471 Yes No Comparative Toxicogenomics Database:25930, Ensembl:ENSG00000076201, GenAtlas:PTPN23, GeneCard:PTPN23, HGNC:HGNC:14406, HumanCyc Gene:HS01202, ModBase:Q9H3S7, NCBI Gene:25930, OMIM:606584, RefSeq DNA:NT_022517, RefSeq Protein:NP_056281, RefSeq RNA:NM_015466, UCSC Genome Browser:NM_015466, UniProtKB:Q9H3S7 No chr3 47422383 47454931 47380982 47413441 +PA33997 646981 HGNC:9653 ENSG00000228196 protein tyrosine phosphatase, non-receptor type 2 pseudogene 1 PTPN2P1 Yes No Ensembl:ENSG00000228196, GenAtlas:PTPN2P1, GeneCard:PTPN2P1, HGNC:HGNC:9653, NCBI Gene:646981 No chr1 178715479 178716965 178746344 178747830 +PA33998 646758 HGNC:9654 ENSG00000224117 protein tyrosine phosphatase, non-receptor type 2 pseudogene 2 PTPN2P2 Yes No Ensembl:ENSG00000224117, GenAtlas:PTPN2P2, GeneCard:PTPN2P2, HGNC:HGNC:9654, NCBI Gene:646758 No chr13 31127808 31128947 30553666 30555010 +PA33999 5774 HGNC:9655 ENSG00000070159 protein tyrosine phosphatase non-receptor type 3 PTPN3 protein tyrosine phosphatase, non-receptor type 3 PTPH1 Yes No Comparative Toxicogenomics Database:5774, Ensembl:ENSG00000070159, GenAtlas:PTPN3, GeneCard:PTPN3, HGNC:HGNC:9655, HumanCyc Gene:HS00986, ModBase:P26045, NCBI Gene:5774, OMIM:176877, RefSeq DNA:NT_008470, RefSeq Protein:NP_001138840, RefSeq Protein:NP_001138841, RefSeq Protein:NP_001138842, RefSeq Protein:NP_001138843, RefSeq Protein:NP_001138844, RefSeq Protein:NP_002820, RefSeq RNA:NM_001145368, RefSeq RNA:NM_001145369, RefSeq RNA:NM_001145370, RefSeq RNA:NM_001145371, RefSeq RNA:NM_001145372, RefSeq RNA:NM_002829, RefSeq RNA:NR_026918, UCSC Genome Browser:NM_002829, UniProtKB:B7Z3V3, UniProtKB:B7Z9V1, UniProtKB:B7ZA03, UniProtKB:P26045, UniProtKB:Q8N4S3 No chr9 112137974 112260593 109375694 109538395 +PA34000 5775 HGNC:9656 ENSG00000088179 protein tyrosine phosphatase non-receptor type 4 PTPN4 """protein tyrosine phosphatase, non-receptor type 4"", ""protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)""" PTPMEG Yes No Comparative Toxicogenomics Database:5775, Ensembl:ENSG00000088179, GenAtlas:PTPN4, GeneCard:PTPN4, HGNC:HGNC:9656, HumanCyc Gene:HS01591, ModBase:P29074, NCBI Gene:5775, OMIM:176878, RefSeq DNA:NT_022135, RefSeq Protein:NP_002821, RefSeq RNA:NM_002830, UCSC Genome Browser:NM_002830, UniProtKB:P29074 No chr2 120517207 120742496 119759631 119984899 +PA34001 84867 HGNC:9657 ENSG00000110786 protein tyrosine phosphatase non-receptor type 5 PTPN5 """protein tyrosine phosphatase, non-receptor type 5"", ""protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)"", ""striatal-enriched protein tyrosine phosphatase""" PTPSTEP, STEP, STEP61 Yes No Comparative Toxicogenomics Database:84867, Ensembl:ENSG00000110786, GenAtlas:PTPN5, GeneCard:PTPN5, HGNC:HGNC:9657, HumanCyc Gene:HS03338, NCBI Gene:84867, OMIM:176879, RefSeq DNA:NT_009237, RefSeq Protein:NP_001035059, RefSeq Protein:NP_008837, RefSeq Protein:NP_116170, RefSeq RNA:NM_001039970, RefSeq RNA:NM_006906, RefSeq RNA:NM_032781, UCSC Genome Browser:NM_032781, UniProtKB:B3KXG7, UniProtKB:P54829, UniProtKB:Q86TL3 No chr11 18749475 18814268 18727928 18792721 +PA34002 5777 HGNC:9658 ENSG00000111679 protein tyrosine phosphatase non-receptor type 6 PTPN6 protein tyrosine phosphatase, non-receptor type 6 HCP, HCPH, PTP-1C, SHP-1, SHP1 Yes No Comparative Toxicogenomics Database:5777, Ensembl:ENSG00000111679, GenAtlas:PTPN6, GeneCard:PTPN6, HGNC:HGNC:9658, HumanCyc Gene:HS03446, HumanCyc Gene:HS10647, ModBase:P29350, NCBI Gene:5777, OMIM:176883, RefSeq DNA:NT_009759, RefSeq Protein:NP_002822, RefSeq Protein:NP_536858, RefSeq Protein:NP_536859, RefSeq RNA:NM_002831, RefSeq RNA:NM_080548, RefSeq RNA:NM_080549, UCSC Genome Browser:NM_002831, UniProtKB:P29350, UniProtKB:Q53XS4, UniProtKB:Q9UK67 No chr12 7055740 7070479 6946576 6961316 +PA34003 5778 HGNC:9659 ENSG00000143851 protein tyrosine phosphatase non-receptor type 7 PTPN7 protein tyrosine phosphatase, non-receptor type 7 HEPTP, LC-PTP Yes No Comparative Toxicogenomics Database:5778, Ensembl:ENSG00000143851, GenAtlas:PTPN7, GeneCard:PTPN7, HGNC:HGNC:9659, HumanCyc Gene:HS07117, ModBase:P35236, NCBI Gene:5778, OMIM:176889, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186726, RefSeq Protein:NP_002823, RefSeq Protein:NP_542155, RefSeq RNA:NM_001199797, RefSeq RNA:NM_002832, RefSeq RNA:NM_080588, RefSeq RNA:NR_037663, RefSeq RNA:NR_037664, UCSC Genome Browser:NM_002832, UniProtKB:P35236 No chr1 202116141 202130716 202147012 202161588 +PA34005 5780 HGNC:9661 ENSG00000169410 protein tyrosine phosphatase non-receptor type 9 PTPN9 protein tyrosine phosphatase, non-receptor type 9 MEG2 Yes No Ensembl:ENSG00000169410, GenAtlas:PTPN9, GeneCard:PTPN9, HGNC:HGNC:9661, HumanCyc Gene:HS09942, ModBase:P43378, NCBI Gene:5780, OMIM:600768, RefSeq DNA:NT_010194, RefSeq Protein:NP_002824, RefSeq RNA:NM_002833, UCSC Genome Browser:NM_002833, UniProtKB:P43378 No chr15 75759462 75871625 75467121 75579291 +PA34009 5786 HGNC:9664 ENSG00000132670 protein tyrosine phosphatase receptor type A PTPRA """protein tyrosine phosphatase, receptor type A"", ""protein tyrosine phosphatase, receptor type, A""" HLPR, HPTPA, LRP, PTPA, PTPRL2, RPTPA Yes No Comparative Toxicogenomics Database:5786, Ensembl:ENSG00000132670, GenAtlas:PTPRA, GeneCard:PTPRA, HGNC:HGNC:9664, HumanCyc Gene:HS05671, ModBase:P18433, NCBI Gene:5786, OMIM:176884, RefSeq DNA:NT_011387, RefSeq Protein:NP_002827, RefSeq Protein:NP_543030, RefSeq Protein:NP_543031, RefSeq RNA:NM_002836, RefSeq RNA:NM_080840, RefSeq RNA:NM_080841, UCSC Genome Browser:NM_002836, UniProtKB:P18433 No chr20 2844841 3019316 2864195 3038669 +PA34010 5787 HGNC:9665 ENSG00000127329 protein tyrosine phosphatase receptor type B PTPRB """protein tyrosine phosphatase, receptor type B"", ""protein tyrosine phosphatase, receptor type, B""" PTPB Yes No Comparative Toxicogenomics Database:5787, Ensembl:ENSG00000127329, GenAtlas:PTPRB, GeneCard:PTPRB, HGNC:HGNC:9665, HumanCyc Gene:HS05085, ModBase:P23467, NCBI Gene:5787, OMIM:176882, RefSeq DNA:NT_029419, RefSeq Protein:NP_001103224, RefSeq Protein:NP_001193900, RefSeq Protein:NP_001193901, RefSeq Protein:NP_002828, RefSeq RNA:NM_001109754, RefSeq RNA:NM_001206971, RefSeq RNA:NM_001206972, RefSeq RNA:NM_002837, UCSC Genome Browser:NM_002837, UniProtKB:P23467, UniProtKB:Q6ZTX7 No chr12 70910630 71031220 70516850 70637440 +PA34011 5788 HGNC:9666 ENSG00000081237 protein tyrosine phosphatase receptor type C PTPRC """glycoprotein 180"", ""leukocyte-common antigen"", ""protein tyrosine phosphatase, receptor type C"", ""protein tyrosine phosphatase, receptor type, C""" B220, CD45, CD45R, GP180, LCA, LY5, T200 Yes Yes Comparative Toxicogenomics Database:5788, Ensembl:ENSG00000081237, GenAtlas:PTPRC, GeneCard:PTPRC, HGNC:HGNC:9666, HumanCyc Gene:HS01390, ModBase:P08575, NCBI Gene:5788, OMIM:126200, OMIM:151460, OMIM:608971, OMIM:609532, RefSeq DNA:NG_007730, RefSeq DNA:NT_004487, RefSeq Protein:NP_002829, RefSeq Protein:NP_563578, RefSeq Protein:NP_563579, RefSeq Protein:NP_563580, RefSeq RNA:NM_002838, RefSeq RNA:NM_080921, RefSeq RNA:NM_080922, RefSeq RNA:NM_080923, UCSC Genome Browser:NM_002838, UniProtKB:P08575, UniProtKB:Q0VAE8, UniProtKB:Q6PJK7 No chr1 198608098 198726605 198638968 198757476 +PA34012 5790 HGNC:9667 ENSG00000213402 protein tyrosine phosphatase receptor type C associated protein PTPRCAP """protein tyrosine phosphatase, receptor type C associated protein"", ""protein tyrosine phosphatase, receptor type, C-associated protein""" CD45-AP, LPAP Yes No Comparative Toxicogenomics Database:5790, Ensembl:ENSG00000213402, GenAtlas:PTPRCAP, GeneCard:PTPRCAP, HGNC:HGNC:9667, NCBI Gene:5790, OMIM:601577, RefSeq DNA:NT_167190, RefSeq Protein:NP_005599, RefSeq RNA:NM_005608, UCSC Genome Browser:NM_005608, UniProtKB:Q14761 No chr11 67202981 67205153 67435510 67437682 +PA34013 5789 HGNC:9668 ENSG00000153707 protein tyrosine phosphatase receptor type D PTPRD """protein tyrosine phosphatase, receptor type D"", ""protein tyrosine phosphatase, receptor type, D""" HPTP, PTPD Yes Yes Comparative Toxicogenomics Database:5789, Ensembl:ENSG00000153707, GenAtlas:PTPRD, GeneCard:PTPRD, HGNC:HGNC:9668, HumanCyc Gene:HS07918, ModBase:P23468, NCBI Gene:5789, OMIM:601598, RefSeq DNA:NT_008413, RefSeq Protein:NP_001035802, RefSeq Protein:NP_001164496, RefSeq Protein:NP_002830, RefSeq Protein:NP_569075, RefSeq Protein:NP_569076, RefSeq Protein:NP_569077, RefSeq RNA:NM_001040712, RefSeq RNA:NM_001171025, RefSeq RNA:NM_002839, RefSeq RNA:NM_130391, RefSeq RNA:NM_130392, RefSeq RNA:NM_130393, UCSC Genome Browser:NM_002839, UniProtKB:P23468, UniProtKB:Q2HXI4, UniProtKB:Q3KPI9, UniProtKB:Q3KPJ0, UniProtKB:Q3KPJ1, UniProtKB:Q3KPJ2, UniProtKB:Q59H90 No chr9 8314246 10612723 8314246 10612840 +PA34014 5791 HGNC:9669 ENSG00000132334 protein tyrosine phosphatase receptor type E PTPRE """protein tyrosine phosphatase, receptor type E"", ""protein tyrosine phosphatase, receptor type, E""" PTPE Yes No Comparative Toxicogenomics Database:5791, Ensembl:ENSG00000132334, GenAtlas:PTPRE, GeneCard:PTPRE, HGNC:HGNC:9669, HumanCyc Gene:HS05621, ModBase:P23469, NCBI Gene:5791, OMIM:600926, RefSeq DNA:NT_008818, RefSeq Protein:NP_006495, RefSeq Protein:NP_569119, RefSeq RNA:NM_006504, RefSeq RNA:NM_130435, UCSC Genome Browser:NM_006504, UniProtKB:P23469, UniProtKB:Q5VWH4, UniProtKB:Q96P81 No chr10 129705325 129884180 127907061 128085855 +PA34015 5792 HGNC:9670 ENSG00000142949 protein tyrosine phosphatase receptor type F PTPRF """leukocyte antigen-related tyrosine phosphatase"", ""leukocyte common antigen related"", ""protein tyrosine phosphatase, receptor type F"", ""protein tyrosine phosphatase, receptor type, F""" LAR Yes No Comparative Toxicogenomics Database:5792, Ensembl:ENSG00000142949, GenAtlas:PTPRF, GeneCard:PTPRF, HGNC:HGNC:9670, HumanCyc Gene:HS06974, ModBase:P10586, NCBI Gene:5792, OMIM:179590, RefSeq DNA:NT_032977, RefSeq Protein:NP_002831, RefSeq Protein:NP_569707, RefSeq RNA:NM_002840, RefSeq RNA:NM_130440, UCSC Genome Browser:NM_002840, UniProtKB:P10586 No chr1 43991708 44089343 43522238 43623672 +PA34016 5793 HGNC:9671 ENSG00000144724 protein tyrosine phosphatase receptor type G PTPRG """protein tyrosine phosphatase, receptor type G"", ""protein tyrosine phosphatase, receptor type, G""" PTPG, RPTPG Yes No Comparative Toxicogenomics Database:5793, Ensembl:ENSG00000144724, GenAtlas:PTPRG, GeneCard:PTPRG, HGNC:HGNC:9671, HumanCyc Gene:HS07197, NCBI Gene:5793, OMIM:176886, RefSeq DNA:NT_022517, RefSeq Protein:NP_002832, RefSeq RNA:NM_002841, UCSC Genome Browser:NM_002841, UniProtKB:P23470 No chr3 61547243 62280573 61561569 62297609 +PA34017 5794 HGNC:9672 ENSG00000080031 protein tyrosine phosphatase receptor type H PTPRH """protein tyrosine phosphatase, receptor type H"", ""protein tyrosine phosphatase, receptor type, H""" SAP-1 Yes No Comparative Toxicogenomics Database:5794, Ensembl:ENSG00000080031, GenAtlas:PTPRH, GeneCard:PTPRH, HGNC:HGNC:9672, HumanCyc Gene:HS01346, ModBase:Q9HD43, NCBI Gene:5794, OMIM:602510, RefSeq DNA:NT_011109, RefSeq Protein:NP_001154912, RefSeq Protein:NP_002833, RefSeq RNA:NM_001161440, RefSeq RNA:NM_002842, UCSC Genome Browser:NM_002842, UniProtKB:C9JCH2, UniProtKB:Q9HD43 No chr19 55692615 55720874 55181247 55209506 +PA34018 5795 HGNC:9673 ENSG00000149177 protein tyrosine phosphatase receptor type J PTPRJ """protein tyrosine phosphatase, receptor type J"", ""protein tyrosine phosphatase, receptor type, J""" CD148, DEP1, HPTPeta Yes No Comparative Toxicogenomics Database:5795, Ensembl:ENSG00000149177, GenAtlas:PTPRJ, GeneCard:PTPRJ, HGNC:HGNC:9673, HumanCyc Gene:HS07590, ModBase:Q12913, NCBI Gene:5795, OMIM:114500, OMIM:600925, RefSeq DNA:NG_012209, RefSeq DNA:NT_009237, RefSeq Protein:NP_001091973, RefSeq Protein:NP_002834, RefSeq RNA:NM_001098503, RefSeq RNA:NM_002843, UCSC Genome Browser:NM_002843, UniProtKB:Q12913, UniProtKB:Q6P4H4, UniProtKB:Q9NPR5 No chr11 48002101 48192394 47980504 48170842 +PA34019 5796 HGNC:9674 ENSG00000152894 protein tyrosine phosphatase receptor type K PTPRK """protein tyrosine phosphatase, receptor type K"", ""protein tyrosine phosphatase, receptor type, K""" R-PTP-kappa Yes No Comparative Toxicogenomics Database:5796, Ensembl:ENSG00000152894, GenAtlas:PTPRK, GeneCard:PTPRK, HGNC:HGNC:9674, HumanCyc Gene:HS07858, ModBase:Q15262, NCBI Gene:5796, OMIM:602545, RefSeq DNA:NT_025741, RefSeq Protein:NP_001129120, RefSeq Protein:NP_002835, RefSeq RNA:NM_001135648, RefSeq RNA:NM_002844, UCSC Genome Browser:NM_002844, UniProtKB:B2RTQ8, UniProtKB:B4DHC3, UniProtKB:Q15262, UniProtKB:Q86WJ2 No chr6 128289924 128841870 127968779 128520847 +PA34020 5797 HGNC:9675 ENSG00000173482 protein tyrosine phosphatase receptor type M PTPRM """protein tyrosine phosphatase, receptor type M"", ""protein tyrosine phosphatase, receptor type, M""" PTPRL1, RPTPU, hR-PTPu Yes Yes Comparative Toxicogenomics Database:5797, Ensembl:ENSG00000173482, GenAtlas:PTPRM, GeneCard:PTPRM, HGNC:HGNC:9675, HumanCyc Gene:HS00046, ModBase:P28827, NCBI Gene:5797, OMIM:176888, RefSeq DNA:NT_010859, RefSeq Protein:NP_001098714, RefSeq Protein:NP_002836, RefSeq RNA:NM_001105244, RefSeq RNA:NM_002845, UCSC Genome Browser:NM_002845, UniProtKB:A7MBN1, UniProtKB:P28827 No chr18 7567314 8406859 7567316 8406861 +PA34021 5798 HGNC:9676 ENSG00000054356 protein tyrosine phosphatase receptor type N PTPRN """insulinoma-associated tyrosine-phosphatase-like protein"", ""islet cell antigen 512"", ""protein tyrosine phosphatase, receptor type N"", ""protein tyrosine phosphatase, receptor type, N""" IA-2, ICA512 Yes No Comparative Toxicogenomics Database:5798, Ensembl:ENSG00000054356, GenAtlas:PTPRN, GeneCard:PTPRN, HGNC:HGNC:9676, HumanCyc Gene:HS00670, ModBase:Q16849, NCBI Gene:5798, OMIM:601773, RefSeq DNA:NT_005403, RefSeq Protein:NP_001186692, RefSeq Protein:NP_001186693, RefSeq Protein:NP_002837, RefSeq RNA:NM_001199763, RefSeq RNA:NM_001199764, RefSeq RNA:NM_002846, UCSC Genome Browser:NM_002846, UniProtKB:Q16849, UniProtKB:Q96IA0 No chr2 220154345 220174295 219289623 219309573 +PA34022 5799 HGNC:9677 ENSG00000155093 protein tyrosine phosphatase receptor type N2 PTPRN2 """IAR PTPRP"", ""protein tyrosine phosphatase, receptor type N2"", ""protein tyrosine phosphatase, receptor type, N polypeptide 2""" IA-2beta, ICAAR, KIAA0387, phogrin Yes Yes Comparative Toxicogenomics Database:5799, Ensembl:ENSG00000155093, GenAtlas:PTPRN2, GeneCard:PTPRN2, HGNC:HGNC:9677, HumanCyc Gene:HS00047, ModBase:Q92932, NCBI Gene:5799, OMIM:601698, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_002838, RefSeq Protein:NP_570857, RefSeq Protein:NP_570858, RefSeq RNA:NM_002847, RefSeq RNA:NM_130842, RefSeq RNA:NM_130843, UCSC Genome Browser:NM_002847, UniProtKB:Q92932, UniProtKB:Q9Y4I6 No chr7 157331750 158380482 157539052 158587802 +PA34023 5800 HGNC:9678 ENSG00000151490 protein tyrosine phosphatase receptor type O PTPRO """osteoclastic transmembrane protein-tyrosine phosphatase"", ""protein tyrosine phosphatase, receptor type O"", ""protein tyrosine phosphatase, receptor type, O""" GLEPP1, NPHS6, PTP-U2, PTP-oc, PTPU2 Yes No Comparative Toxicogenomics Database:5800, Ensembl:ENSG00000151490, GenAtlas:PTPRO, GeneCard:PTPRO, HGNC:HGNC:9678, HumanCyc Gene:HS07740, ModBase:Q16827, NCBI Gene:5800, OMIM:600579, RefSeq DNA:NT_009714, RefSeq Protein:NP_002839, RefSeq Protein:NP_109592, RefSeq Protein:NP_109593, RefSeq Protein:NP_109594, RefSeq Protein:NP_109595, RefSeq Protein:NP_109596, RefSeq RNA:NM_002848, RefSeq RNA:NM_030667, RefSeq RNA:NM_030668, RefSeq RNA:NM_030669, RefSeq RNA:NM_030670, RefSeq RNA:NM_030671, UCSC Genome Browser:NM_002848, UniProtKB:Q16827, UniProtKB:Q9UBF0, UniProtKB:Q9UBT5 No chr12 15475191 15751265 15322257 15598331 +PA164742315 374462 HGNC:9679 ENSG00000139304 protein tyrosine phosphatase receptor type Q PTPRQ """phosphatidylinositol phosphatase PTPRQ"", ""protein tyrosine phosphatase, receptor type Q"", ""protein tyrosine phosphatase, receptor type, Q""" DFNB84 Yes No Ensembl:ENSG00000139304, GeneCard:PTPRQ, HGNC:HGNC:9679, NCBI Gene:374462, OMIM:603317, OMIM:613391, RefSeq DNA:NT_029419, RefSeq Protein:NP_001138498, RefSeq RNA:NM_001145026 No chr12 80838126 81073968 80424261 80680273 +PA34025 5801 HGNC:9680 ENSG00000153233 protein tyrosine phosphatase receptor type R PTPRR """protein tyrosine phosphatase, receptor type R"", ""protein tyrosine phosphatase, receptor type, R""" EC-PTP, PCPTP1, PTP-SL, PTPBR7, PTPRQ Yes No Comparative Toxicogenomics Database:5801, Ensembl:ENSG00000153233, GenAtlas:PTPRR, GeneCard:PTPRR, HGNC:HGNC:9680, HumanCyc Gene:HS07894, ModBase:Q15256, NCBI Gene:5801, OMIM:602853, RefSeq DNA:NT_029419, RefSeq Protein:NP_001193944, RefSeq Protein:NP_001193945, RefSeq Protein:NP_002840, RefSeq Protein:NP_570897, RefSeq RNA:NM_001207015, RefSeq RNA:NM_001207016, RefSeq RNA:NM_002849, RefSeq RNA:NM_130846, UCSC Genome Browser:NM_002849, UniProtKB:Q15256, UniProtKB:Q2TAJ3 No chr12 71031853 71314584 70638073 70920804 +PA34026 5802 HGNC:9681 ENSG00000105426 protein tyrosine phosphatase receptor type S PTPRS """protein tyrosine phosphatase, receptor type S"", ""protein tyrosine phosphatase, receptor type, S""" PTP-sigma, PTPsigma Yes No Comparative Toxicogenomics Database:5802, Ensembl:ENSG00000105426, GenAtlas:PTPRS, GeneCard:PTPRS, HGNC:HGNC:9681, HumanCyc Gene:HS02737, ModBase:Q13332, NCBI Gene:5802, OMIM:601576, RefSeq DNA:NT_011255, RefSeq Protein:NP_002841, RefSeq Protein:NP_570923, RefSeq Protein:NP_570924, RefSeq Protein:NP_570925, RefSeq RNA:NM_002850, RefSeq RNA:NM_130853, RefSeq RNA:NM_130854, RefSeq RNA:NM_130855, UCSC Genome Browser:NM_002850, UniProtKB:Q13332, UniProtKB:Q2M3R7, UniProtKB:Q59FX6, UniProtKB:Q8NHS7 No chr19 5205514 5340814 5205503 5340803 +PA34027 11122 HGNC:9682 ENSG00000196090 protein tyrosine phosphatase receptor type T PTPRT """protein tyrosine phosphatase, receptor type T"", ""protein tyrosine phosphatase, receptor type, T""" KIAA0283, RPTPrho Yes No Comparative Toxicogenomics Database:11122, Ensembl:ENSG00000196090, GenAtlas:PTPRT, GeneCard:PTPRT, HGNC:HGNC:9682, HumanCyc Gene:HS00002, ModBase:Q9NTL1, NCBI Gene:11122, OMIM:608712, RefSeq DNA:NT_011362, RefSeq Protein:NP_008981, RefSeq Protein:NP_573400, RefSeq RNA:NM_007050, RefSeq RNA:NM_133170, UCSC Genome Browser:NM_007050, UniProtKB:B1AJR7, UniProtKB:O14522 No chr20 40701392 41818557 42072752 43189917 +PA34028 10076 HGNC:9683 ENSG00000060656 protein tyrosine phosphatase receptor type U PTPRU """pi R-PTP-Psi"", ""protein tyrosine phosphatase, receptor type U"", ""protein tyrosine phosphatase, receptor type, U""" FMI, PCP-2, PTP, PTPRO, hPTP-J Yes No Comparative Toxicogenomics Database:10076, Ensembl:ENSG00000060656, GenAtlas:PTPRU, GeneCard:PTPRU, HGNC:HGNC:9683, HumanCyc Gene:HS00747, ModBase:Q92729, NCBI Gene:10076, OMIM:602454, RefSeq DNA:NT_004610, RefSeq Protein:NP_001181930, RefSeq Protein:NP_005695, RefSeq Protein:NP_573438, RefSeq Protein:NP_573439, RefSeq RNA:NM_001195001, RefSeq RNA:NM_005704, RefSeq RNA:NM_133177, RefSeq RNA:NM_133178, UCSC Genome Browser:NM_005704, UniProtKB:Q92729 No chr1 29563028 29653325 29236516 29326813 +PA134935370 148713 HGNC:13421 ENSG00000243323 protein tyrosine phosphatase, receptor type, V, pseudogene PTPRVP ESP, OST-PTP Yes No Ensembl:ENSG00000243323, HGNC:HGNC:13421, NCBI Gene:148713, RefSeq DNA:NT_004487, RefSeq RNA:NR_002930 No chr1 202137179 202158577 202168051 202189449 +PA34029 5803 HGNC:9685 ENSG00000106278 protein tyrosine phosphatase receptor type Z1 PTPRZ1 """protein tyrosine phosphatase, receptor type Z1"", ""protein tyrosine phosphatase, receptor-type, Z polypeptide 1""" PTP18, PTPRZ, PTPZ, RPTPB, phosphacan Yes No Comparative Toxicogenomics Database:5803, Ensembl:ENSG00000106278, GenAtlas:PTPRZ1, GeneCard:PTPRZ1, HGNC:HGNC:9685, HumanCyc Gene:HS02880, HumanCyc Gene:HS11250, ModBase:P23471, NCBI Gene:5803, OMIM:176891, OMIM:600263, RefSeq DNA:NG_023266, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001193767, RefSeq Protein:NP_001193768, RefSeq Protein:NP_002842, RefSeq RNA:NM_001206838, RefSeq RNA:NM_001206839, RefSeq RNA:NM_002851, UCSC Genome Browser:NM_002851, UniProtKB:P23471 No chr7 121513159 121702090 121873105 122062036 +PA34030 5804 HGNC:9686 protein tyrosine phosphatase, receptor-type, Z polypeptide 2 PTPRZ2 HTPZP2, PTPRZ Yes No GenAtlas:PTPRZ2, GeneCard:PTPRZ2, HGNC:HGNC:9686, NCBI Gene:5804, OMIM:604008 No chr1 +PA134917129 138428 HGNC:27039 ENSG00000187024 peptidyl-tRNA hydrolase 1 homolog PTRH1 peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae) C9orf115, PTH1 Yes No Ensembl:ENSG00000187024, GeneCard:PTRH1, HGNC:HGNC:27039, HumanCyc Gene:HS11924, ModBase:Q86Y79, NCBI Gene:138428, RefSeq DNA:NT_008470, RefSeq Protein:NP_001002913, RefSeq RNA:NM_001002913, UniProtKB:Q86Y79 No chr9 130476227 130487152 127695024 127716714 +PA143485586 51651 HGNC:24265 ENSG00000141378 peptidyl-tRNA hydrolase 2 PTRH2 Bcl-2 inhibitor of transcription, cilia and flagella associated protein 37 BIT1, CFAP37, CGI-147, PTH2 Yes No Comparative Toxicogenomics Database:51651, Ensembl:ENSG00000141378, GeneCard:PTRH2, HGNC:HGNC:24265, HumanCyc Gene:HS06818, ModBase:Q9Y3E5, NCBI Gene:51651, OMIM:608625, RefSeq DNA:NT_010783, RefSeq Protein:NP_057161, RefSeq RNA:NM_016077, UniProtKB:Q9Y3E5 No chr17 57774667 57784856 59697306 59707598 +PA162379611 391356 HGNC:33782 ENSG00000184924 peptidyl-tRNA hydrolase domain containing 1 PTRHD1 C2orf79, LOC391356 Yes No Ensembl:ENSG00000184924, GeneCard:C2orf79, HGNC:HGNC:33782, ModBase:Q6GMV3, NCBI Gene:391356, RefSeq DNA:NT_022184, RefSeq Protein:NP_001013685, RefSeq RNA:NM_001013663, UniProtKB:Q6GMV3 No chr2 25013136 25016251 24790267 24793382 +PA34032 5805 HGNC:9689 ENSG00000150787 6-pyruvoyltetrahydropterin synthase PTS PTPS Yes No Comparative Toxicogenomics Database:5805, Ensembl:ENSG00000150787, GenAtlas:PTS, GeneCard:PTS, HGNC:HGNC:9689, HumanCyc Gene:HS07692, ModBase:Q03393, NCBI Gene:5805, OMIM:261640, OMIM:612719, RefSeq DNA:NG_008743, RefSeq DNA:NT_033899, RefSeq Protein:NP_000308, RefSeq RNA:NM_000317, UCSC Genome Browser:NM_000317, UniProtKB:Q03393 No chr11 112097088 112104696 112226365 112233973 +PA34033 9232 HGNC:9690 ENSG00000164611 PTTG1 regulator of sister chromatid separation, securin PTTG1 ESP1-associated protein 1, endogenous cardiac regeneration-associated regulator, pituitary tumor-transforming 1, tumor-transforming protein 1 EAP1, ECRAR, HPTTG, PTTG, TUTR1, securin Yes Yes Comparative Toxicogenomics Database:9232, Ensembl:ENSG00000164611, GenAtlas:PTTG1, GeneCard:PTTG1, HGNC:HGNC:9690, HumanCyc Gene:HS09104, ModBase:O95997, NCBI Gene:9232, OMIM:604147, RefSeq DNA:NT_023133, RefSeq Protein:NP_004210, RefSeq RNA:NM_004219, UCSC Genome Browser:NM_004219, UniProtKB:O95997, UniProtKB:Q6IAL9 No chr5 159848865 159855747 160421807 160428744 +PA34034 754 HGNC:13524 ENSG00000183255 PTTG1 interacting protein PTTG1IP pituitary tumor-transforming 1 interacting protein C21orf1, C21orf3, PBF, PTTG1IP1 Yes No Comparative Toxicogenomics Database:754, Ensembl:ENSG00000183255, GenAtlas:PTTG1IP, GeneCard:PTTG1IP, HGNC:HGNC:13524, NCBI Gene:754, OMIM:603784, RefSeq DNA:NT_011515, RefSeq Protein:NP_004330, RefSeq RNA:NM_004339, UCSC Genome Browser:NM_004339, UniProtKB:P53801 No chr21 46269500 46294487 44849585 44873903 +PA166352062 102723899 HGNC:55318 PTTG1IP family member 2 PTTG1IP2 Yes No HGNC:HGNC:55318, NCBI Gene:102723899 No 0 0 0 0 +PA34035 10744 HGNC:9691 ENSG00000250254 pituitary tumor-transforming 2 PTTG2 Yes No Ensembl:ENSG00000250254, GenAtlas:PTTG2, GeneCard:PTTG2, HGNC:HGNC:9691, HumanCyc Gene:HS11649, NCBI Gene:10744, OMIM:604231, RefSeq DNA:NT_016297, RefSeq Protein:NP_006598, RefSeq RNA:NM_006607, UCSC Genome Browser:NM_006607, UniProtKB:Q9NZH5 No chr4 37962056 37962631 37960435 37961010 +PA134988136 26255 HGNC:13422 ENSG00000213005 pituitary tumor-transforming 3, pseudogene PTTG3P Yes No Comparative Toxicogenomics Database:26255, Ensembl:ENSG00000213005, HGNC:HGNC:13422, NCBI Gene:26255, RefSeq DNA:NT_008183, RefSeq RNA:NR_002734 No chr8 67679632 67680240 66767397 66768005 +PA134904688 326315 HGNC:20055 ENSG00000258571 pituitary tumor-transforming 4 pseudogene PTTG4P Yes No Ensembl:ENSG00000258571, GeneCard:PTTG4P, HGNC:HGNC:20055, NCBI Gene:326315, RefSeq DNA:NG_002565, RefSeq DNA:NT_026437 No chr14 71552114 71552593 71085397 71085876 +PA34036 5806 HGNC:9692 ENSG00000163661 pentraxin 3 PTX3 """Tumor necrosis factor-inducible gene 14 protein"", ""long pentraxin 3"", ""pentraxin 3, long""" TNFAIP5, TSG-14 Yes No Comparative Toxicogenomics Database:5806, Ensembl:ENSG00000163661, GenAtlas:PTX3, GeneCard:PTX3, HGNC:HGNC:9692, HumanCyc Gene:HS08908, ModBase:P26022, NCBI Gene:5806, OMIM:602492, RefSeq DNA:NT_005612, RefSeq Protein:NP_002843, RefSeq RNA:NM_002852, UCSC Genome Browser:NM_002852, UniProtKB:P26022 No chr3 157154580 157161417 157436791 157443628 +PA25553 390667 HGNC:14171 ENSG00000251692 pentraxin 4 PTX4 """long pentraxin 4"", ""pentraxin 4, long""" C16orf38 Yes No Ensembl:ENSG00000251692, GenAtlas:C16orf38, GeneCard:C16orf38, GeneCard:PTX4, HGNC:HGNC:14171, NCBI Gene:390667, OMIM:613442, RefSeq DNA:NT_010393, RefSeq DNA:NT_037887, RefSeq Protein:NP_001013680, RefSeq RNA:NM_001013658, UniProtKB:Q96A99 No chr16 1535940 1538468 1485939 1488467 +PA165756731 8226 HGNC:16818 ENSG00000130021 pseudouridine 5'-phosphatase PUDP haloacid dehalogenase-like hydrolase domain containing 1 DXF68S1E, FAM16AX, GS1, HDHD1, HDHD1A Yes No Comparative Toxicogenomics Database:8226, Ensembl:ENSG00000130021, GeneCard:HDHD1, GeneCard:HDHD1A, HGNC:HGNC:16818, HumanCyc Gene:HS05329, ModBase:Q08623, NCBI Gene:8226, OMIM:306480, RefSeq DNA:NG_021256, RefSeq DNA:NT_011757, RefSeq DNA:NT_167197, RefSeq Protein:NP_001129037, RefSeq Protein:NP_001171606, RefSeq Protein:NP_001171607, RefSeq Protein:NP_036212, RefSeq RNA:NM_001135565, RefSeq RNA:NM_001178135, RefSeq RNA:NM_001178136, RefSeq RNA:NM_012080, UCSC Genome Browser:NM_012080, UniProtKB:B4DV93, UniProtKB:Q08623 No chrX 6966961 7066231 6768840 7148190 +PA162400364 22827 HGNC:17042 ENSG00000179950 poly(U) binding splicing factor 60 PUF60 FBP interacting repressor, Ro ribonucleoprotein binding protein 1, poly-U binding splicing factor 60KDa, pyrimidine tract binding splicing factor, siah binding protein 1 FIR, RoBPI, SIAHBP1 Yes No Ensembl:ENSG00000179950, GeneCard:PUF60, HGNC:HGNC:17042, HumanCyc Gene:HS11434, ModBase:Q9UHX1, NCBI Gene:22827, OMIM:604819, RefSeq DNA:NT_008046, RefSeq Protein:NP_001129505, RefSeq Protein:NP_055096, RefSeq Protein:NP_510965, RefSeq RNA:NM_001136033, RefSeq RNA:NM_014281, RefSeq RNA:NM_078480, UniProtKB:Q9UHX1 No chr8 144898514 144911556 143816344 143829386 +PA34042 9698 HGNC:14957 ENSG00000134644 pumilio RNA binding family member 1 PUM1 pumilio RNA-binding family member 1, pumilio homolog 1 (Drosophila) KIAA0099, PUMH1 Yes No Ensembl:ENSG00000134644, GenAtlas:PUM1, GeneCard:PUM1, HGNC:HGNC:14957, HumanCyc Gene:HS05896, NCBI Gene:9698, OMIM:607204, RefSeq DNA:NT_032977, RefSeq Protein:NP_001018494, RefSeq Protein:NP_055491, RefSeq RNA:NM_001020658, RefSeq RNA:NM_014676, UCSC Genome Browser:NM_014676, UniProtKB:Q14671, UniProtKB:Q53HH5 No chr1 31404353 31538838 30931506 31065717 +PA34043 23369 HGNC:14958 ENSG00000055917 pumilio RNA binding family member 2 PUM2 pumilio RNA-binding family member 2, pumilio homolog 2 (Drosophila) KIAA0235, PUMH2 Yes No Comparative Toxicogenomics Database:23369, Ensembl:ENSG00000055917, GenAtlas:PUM2, GeneCard:PUM2, HGNC:HGNC:14958, HumanCyc Gene:HS00687, ModBase:Q8TB72, NCBI Gene:23369, OMIM:607205, RefSeq DNA:NT_015926, RefSeq Protein:NP_056132, RefSeq RNA:NM_015317, UCSC Genome Browser:NM_015317, UniProtKB:Q8TB72 No chr2 20448453 20550585 20248692 20352423 +PA134895115 9933 HGNC:29676 ENSG00000080608 pumilio RNA binding family member 3 PUM3 minor histocompatibility antigen HA-8, penguin homolog (Drosophila) HA-8, KIAA0020, PEN, PUF6, Puf-A, XTP5, hPUF-A Yes No Comparative Toxicogenomics Database:9933, Ensembl:ENSG00000080608, GeneCard:KIAA0020, HGNC:HGNC:29676, HumanCyc Gene:HS01363, ModBase:Q15397, NCBI Gene:9933, OMIM:609960, RefSeq DNA:NT_008413, RefSeq Protein:NP_055693, RefSeq RNA:NM_014878, UniProtKB:Q15397 No chr9 2804152 2844130 2804152 2844130 +PA34045 5813 HGNC:9701 ENSG00000185129 purine rich element binding protein A PURA purine-rich element binding protein A PUR-ALPHA, PUR1, PURALPHA Yes Yes Ensembl:ENSG00000185129, GenAtlas:PURA, GeneCard:PURA, HGNC:HGNC:9701, ModBase:Q00577, NCBI Gene:5813, OMIM:600473, RefSeq DNA:NT_029289, RefSeq Protein:NP_005850, RefSeq RNA:NM_005859, UCSC Genome Browser:NM_005859, UniProtKB:Q00577, UniProtKB:Q56A79 No chr5 139493708 139499001 140114123 140119416 +PA34046 5814 HGNC:9702 ENSG00000146676 purine rich element binding protein B PURB purine-rich element binding protein B PURBETA Yes No Comparative Toxicogenomics Database:5814, Ensembl:ENSG00000146676, GenAtlas:PURB, GeneCard:PURB, HGNC:HGNC:9702, HumanCyc Gene:HS14169, ModBase:Q96QR8, NCBI Gene:5814, OMIM:608887, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_150093, RefSeq RNA:NM_033224, UCSC Genome Browser:NM_033224, UniProtKB:Q96QR8 No chr7 44915892 44924960 44876293 44885385 +PA134879671 29942 HGNC:17930 ENSG00000172733 purine rich element binding protein G PURG purine-rich element binding protein G PURG-A, PURG-B Yes No Comparative Toxicogenomics Database:29942, Ensembl:ENSG00000172733, GeneCard:PURG, HGNC:HGNC:17930, HumanCyc Gene:HS16123, ModBase:Q9UJV8, NCBI Gene:29942, RefSeq DNA:NT_167187, RefSeq Protein:NP_001015508, RefSeq Protein:NP_037489, RefSeq RNA:NM_001015508, RefSeq RNA:NM_013357, UniProtKB:Q9UJV8 No chr8 30853320 30891231 30995802 31033715 +PA34047 80324 HGNC:15508 ENSG00000177192 pseudouridine synthase 1 PUS1 mitochondrial myopathy and sideroblastic anemia 1, pseudouridylate synthase 1, tRNA pseudouridine(38-40) synthase MLASA1 Yes No Comparative Toxicogenomics Database:80324, Ensembl:ENSG00000177192, GenAtlas:PUS1, GeneCard:PUS1, HGNC:HGNC:15508, HumanCyc Gene:HS11137, ModBase:Q9Y606, NCBI Gene:80324, OMIM:600462, OMIM:608109, RefSeq DNA:NG_013039, RefSeq DNA:NT_009755, RefSeq Protein:NP_001002019, RefSeq Protein:NP_001002020, RefSeq Protein:NP_079491, RefSeq RNA:NM_001002019, RefSeq RNA:NM_001002020, RefSeq RNA:NM_025215, UCSC Genome Browser:NM_025215, UniProtKB:Q9Y606 No chr12 132413745 132428406 131929200 131944040 +PA162400393 150962 HGNC:26505 ENSG00000162927 pseudouridine synthase 10 PUS10 pseudouridylate synthase 10 CCDC139, FLJ32312 Yes No Ensembl:ENSG00000162927, GeneCard:PUS10, HGNC:HGNC:26505, HumanCyc Gene:HS14989, NCBI Gene:150962, OMIM:612787, RefSeq DNA:NT_022184, RefSeq Protein:NP_653310, RefSeq RNA:NM_144709, UniProtKB:Q3MIT2 No chr2 61167548 61245365 60938352 61018283 +PA134874048 83480 HGNC:25461 ENSG00000110060 pseudouridine synthase 3 PUS3 pseudouridylate synthase 3, tRNA pseudouridine(38/39) synthase, tRNA-uridine isomerase 3 DEG1, FKSG32 Yes No Comparative Toxicogenomics Database:83480, Ensembl:ENSG00000110060, GeneCard:PUS3, HGNC:HGNC:25461, HumanCyc Gene:HS12710, ModBase:Q9BZE2, NCBI Gene:83480, RefSeq DNA:NT_033899, RefSeq Protein:NP_112597, RefSeq RNA:NM_031307, UniProtKB:Q9BZE2 No chr11 125763380 125773145 125893485 125903774 +PA143485587 54517 HGNC:26033 ENSG00000091127 pseudouridine synthase 7 PUS7 pseudouridylate synthase 7 (putative), pseudouridylate synthase 7 homolog (S. cerevisiae) FLJ20485 Yes No Comparative Toxicogenomics Database:54517, Ensembl:ENSG00000091127, GeneCard:PUS7, HGNC:HGNC:26033, ModBase:Q96PZ0, NCBI Gene:54517, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_061915, RefSeq RNA:NM_019042, UniProtKB:B3KRB2, UniProtKB:B3KY42, UniProtKB:Q96PZ0 No chr7 105096948 105162689 105456501 105522270 +PA143485588 83448 HGNC:25276 ENSG00000129317 pseudouridine synthase 7 like PUS7L pseudouridylate synthase 7 homolog (S. cerevisiae)-like DKFZP434G1415 Yes No Ensembl:ENSG00000129317, GeneCard:PUS7L, HGNC:HGNC:25276, HumanCyc Gene:HS05269, ModBase:Q9H0K6, NCBI Gene:83448, RefSeq DNA:NT_029419, RefSeq Protein:NP_001092084, RefSeq Protein:NP_001092085, RefSeq Protein:NP_112582, RefSeq RNA:NM_001098614, RefSeq RNA:NM_001098615, RefSeq RNA:NM_031292, UniProtKB:Q9H0K6 No chr12 44121828 44152620 43728188 43758817 +PA134947837 126789 HGNC:26914 ENSG00000169972 pseudouridine synthase like 1 PUSL1 pseudouridylate synthase-like 1 FLJ90811 Yes No Ensembl:ENSG00000169972, GeneCard:PUSL1, HGNC:HGNC:26914, HumanCyc Gene:HS15832, ModBase:Q8N0Z8, NCBI Gene:126789, RefSeq DNA:NT_004350, RefSeq Protein:NP_699170, RefSeq RNA:NM_153339, UniProtKB:Q8N0Z8 No chr1 1243962 1247057 1308562 1311677 +PA34049 5816 HGNC:9704 ENSG00000100362 parvalbumin PVALB parvalbumin alpha D22S749 Yes No Comparative Toxicogenomics Database:5816, Ensembl:ENSG00000100362, GenAtlas:PVALB, GeneCard:PVALB, HGNC:HGNC:9704, HumanCyc Gene:HS02061, ModBase:P20472, NCBI Gene:5816, OMIM:168890, RefSeq DNA:NT_011520, RefSeq Protein:NP_002845, RefSeq RNA:NM_002854, UCSC Genome Browser:NM_002854, UniProtKB:P20472 No chr22 37196745 37215517 36800701 36819473 +PA166181612 388428 HGNC:40053 ENSG00000225180 parvalbumin like EF-hand containing PVALEF AATK-AS1 Yes No Ensembl:ENSG00000225180, HGNC:HGNC:40053, NCBI Gene:388428 No 0 0 0 0 +PA34050 5817 HGNC:9705 ENSG00000073008 PVR cell adhesion molecule PVR nectin-like 5, poliovirus receptor CD155, HVED, NECL5, Necl-5, PVS, Tage4 Yes No Comparative Toxicogenomics Database:5817, Ensembl:ENSG00000073008, GenAtlas:PVR, GeneCard:PVR, HGNC:HGNC:9705, HumanCyc Gene:HS01090, ModBase:P15151, NCBI Gene:5817, OMIM:173850, RefSeq DNA:NG_008781, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129240, RefSeq Protein:NP_001129241, RefSeq Protein:NP_001129242, RefSeq Protein:NP_006496, RefSeq RNA:NM_001135768, RefSeq RNA:NM_001135769, RefSeq RNA:NM_001135770, RefSeq RNA:NM_006505, UCSC Genome Browser:NM_006505, UniProtKB:P15151 No chr19 45147098 45169429 44643798 44666161 +PA162400434 79037 HGNC:32190 ENSG00000213413 PVR related immunoglobulin domain containing PVRIG CD112 receptor, nectin-2 receptor, poliovirus receptor related immunoglobulin domain containing C7orf15, CD112R, MGC2463 Yes No Ensembl:ENSG00000213413, GeneCard:PVRIG, HGNC:HGNC:32190, ModBase:Q6DKI7, NCBI Gene:79037, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_076975, RefSeq RNA:NM_024070, UniProtKB:Q6DKI7 No chr7 99816147 99819113 100218625 100221489 +PA34053 5820 HGNC:9709 ENSG00000249859 Pvt1 oncogene (non-protein coding) PVT1 long intergenic non-protein coding RNA 79, non-protein coding RNA 79 LINC00079, NCRNA00079 Yes Yes Comparative Toxicogenomics Database:5820, Ensembl:ENSG00000249859, GenAtlas:PVT1, GeneCard:PVT1, HGNC:HGNC:9709, NCBI Gene:5820, OMIM:165140, RefSeq DNA:NT_008046, RefSeq RNA:NR_003367 No chr8 128902874 129113499 127794533 128101253 +PA142671112 11137 HGNC:17015 ENSG00000136045 PWP1 homolog, endonuclein PWP1 PWP1 homolog (S. cerevisiae), endonuclein IEF-SSP-9502 Yes No Ensembl:ENSG00000136045, GeneCard:PWP1, HGNC:HGNC:17015, HumanCyc Gene:HS06107, ModBase:Q13610, NCBI Gene:11137, RefSeq DNA:NT_029419, RefSeq Protein:NP_008993, RefSeq RNA:NM_007062, UniProtKB:Q13610 No chr12 108079590 108106257 107685732 107713162 +PA162400451 5822 HGNC:9711 ENSG00000241945 PWP2 small subunit processome component PWP2 """PWP2 periodic tryptophan protein homolog (yeast)"", ""PWP2, small subunit processome component""" EHOC-17, PWP2H, UTP1 Yes No Ensembl:ENSG00000241945, GeneCard:PWP2, HGNC:HGNC:9711, ModBase:Q15269, NCBI Gene:5822, OMIM:601475, RefSeq DNA:NT_011515, RefSeq Protein:NP_005040, RefSeq RNA:NM_005049, UniProtKB:Q15269 No chr21 45527208 45551063 44107262 44131181 +PA162400498 791114 HGNC:33235 ENSG00000259905 Prader-Willi region non-protein coding RNA 1 PWRN1 non-protein coding RNA 198 NCRNA00198 Yes No Ensembl:ENSG00000259905, GeneCard:PWRN1, HGNC:HGNC:33235, NCBI Gene:791114, OMIM:611215, RefSeq DNA:NG_016177, RefSeq DNA:NT_026446, RefSeq RNA:NR_026646 No chr15 24803304 24832927 24558157 24587780 +PA162400499 791115 HGNC:33236 ENSG00000260551 Prader-Willi region non-protein coding RNA 2 PWRN2 non-protein coding RNA 199 NCRNA00199 Yes No Ensembl:ENSG00000260551, GeneCard:PWRN2, HGNC:HGNC:33236, NCBI Gene:791115, OMIM:611217, RefSeq DNA:NT_026446, RefSeq RNA:NR_026647 No chr15 24409924 24415095 24164779 24169906 +PA162400500 114825 HGNC:29406 ENSG00000170234 PWWP domain containing 2A PWWP2A KIAA1935 Yes No Ensembl:ENSG00000170234, GeneCard:PWWP2A, HGNC:HGNC:29406, NCBI Gene:114825, RefSeq DNA:NT_023133, RefSeq Protein:NP_001124336, RefSeq Protein:NP_443159, RefSeq RNA:NM_001130864, RefSeq RNA:NM_052927, UniProtKB:Q96N64 No chr5 159502889 159546452 160043538 160120709 +PA162400513 170394 HGNC:25150 ENSG00000171813 PWWP domain containing 2B PWWP2B FLJ46823, PWWP2, bA432J24.1 Yes No Ensembl:ENSG00000171813, GeneCard:PWWP2B, HGNC:HGNC:25150, ModBase:Q6NUJ5, NCBI Gene:170394, RefSeq DNA:NT_008818, RefSeq Protein:NP_001092107, RefSeq Protein:NP_612508, RefSeq RNA:NM_001098637, RefSeq RNA:NM_138499, UniProtKB:Q6NUJ5 No chr10 134210702 134231363 132397196 132417863 +PA164742142 84939 HGNC:29641 ENSG00000160953 PWWP domain containing 3A, DNA repair factor PWWP3A melanoma associated antigen (mutated) 1 EXPAND1, MUM-1, MUM1 Yes No Ensembl:ENSG00000160953, HGNC:HGNC:29641, NCBI Gene:84939, RefSeq DNA:NT_011255, RefSeq Protein:NP_116242, RefSeq RNA:NM_032853, RefSeq RNA:NR_024247, UniProtKB:Q2TAK8 No chr19 1354976 1378430 1354977 1378431 +PA134880222 139221 HGNC:26583 ENSG00000157502 PWWP domain containing 3B PWWP3B melanoma associated antigen (mutated) 1-like 1 FLJ33516, MUM1L1 Yes No Ensembl:ENSG00000157502, GeneCard:MUM1L1, HGNC:HGNC:26583, HumanCyc Gene:HS14665, ModBase:Q5H9M0, NCBI Gene:139221, RefSeq DNA:NG_016639, RefSeq DNA:NT_011651, RefSeq Protein:NP_001164491, RefSeq Protein:NP_689636, RefSeq RNA:NM_001171020, RefSeq RNA:NM_152423, UniProtKB:Q5H9M0 No chrX 105412298 105452949 106168278 106208961 +PA166352063 728317 HGNC:55197 PWWP domain containing 4 PWWP4 Yes No HGNC:HGNC:55197, NCBI Gene:728317 No 0 0 0 0 +PA134944183 221749 HGNC:21361 ENSG00000168994 PX domain containing 1 PXDC1 C6orf145 Yes No Ensembl:ENSG00000168994, GeneCard:C6orf145, HGNC:HGNC:21361, ModBase:Q5TGL8, NCBI Gene:221749, RefSeq DNA:NT_007592, RefSeq Protein:NP_899229, RefSeq RNA:NM_183373, UniProtKB:Q5TGL8 No chr6 3722836 3752246 3722602 3752012 +PA128394535 7837 HGNC:14966 ENSG00000130508 peroxidasin PXDN peroxidasin homolog (Drosophila) D2S448, D2S448E, KIAA0230, MG50, PRG2, PXN Yes No Comparative Toxicogenomics Database:7837, Ensembl:ENSG00000130508, GeneCard:PXDN, HGNC:HGNC:14966, ModBase:Q92626, NCBI Gene:7837, OMIM:605158, RefSeq DNA:NT_022221, RefSeq Protein:NP_036425, RefSeq RNA:NM_012293, UniProtKB:Q92626 No chr2 1635659 1748291 1631887 1744852 +PA142671110 137902 HGNC:26359 ENSG00000147485 peroxidasin like PXDNL peroxidasin homolog (Drosophila)-like, polysomal ribonuclease 1 homolog (Xenopus) FLJ25471, PMR1 Yes No Ensembl:ENSG00000147485, GeneCard:PXDNL, HGNC:HGNC:26359, HumanCyc Gene:HS07441, ModBase:A1KZ92, NCBI Gene:137902, RefSeq DNA:NT_008183, RefSeq Protein:NP_653252, RefSeq RNA:NM_144651, UniProtKB:A1KZ92 No chr8 52232137 52722005 51319575 51811031 +PA134899496 54899 HGNC:23326 ENSG00000168297 PX domain containing serine/threonine kinase like PXK PX domain containing serine/threonine kinase FLJ20335, Slob Yes No Comparative Toxicogenomics Database:54899, Ensembl:ENSG00000168297, GeneCard:PXK, HGNC:HGNC:23326, HumanCyc Gene:HS09728, ModBase:Q6ZN39, NCBI Gene:54899, OMIM:611450, RefSeq DNA:NT_022517, RefSeq Protein:NP_060241, RefSeq RNA:NM_017771, UniProtKB:Q7Z7A4 No chr3 58318617 58411815 58332868 58426127 +PA34059 5827 HGNC:9716 ENSG00000176894 peroxisomal membrane protein 2 PXMP2 peroxisomal membrane protein 2, 22kDa MPV17L3, PMP22 Yes No Comparative Toxicogenomics Database:5827, Ensembl:ENSG00000176894, GenAtlas:PXMP2, GeneCard:PXMP2, HGNC:HGNC:9716, HumanCyc Gene:HS16743, NCBI Gene:5827, RefSeq DNA:NT_024477, RefSeq Protein:NP_061133, RefSeq RNA:NM_018663, UCSC Genome Browser:NM_018663, UniProtKB:Q9NR77 No chr12 133264192 133281577 132687606 132704991 +PA34061 11264 HGNC:15920 ENSG00000101417 peroxisomal membrane protein 4 PXMP4 """24 kDa peroxisomal intrinsic membrane protein"", ""peroxisomal membrane protein 4, 24kDa""" PMP24 Yes No Comparative Toxicogenomics Database:11264, Ensembl:ENSG00000101417, GenAtlas:PXMP4, GeneCard:PXMP4, HGNC:HGNC:15920, HumanCyc Gene:HS02262, ModBase:Q9Y6I8, NCBI Gene:11264, RefSeq DNA:NT_011362, RefSeq Protein:NP_009169, RefSeq Protein:NP_899634, RefSeq RNA:NM_007238, RefSeq RNA:NM_183397, UCSC Genome Browser:NM_007238, UniProtKB:A2A2I7, UniProtKB:Q9Y6I8 No chr20 32290550 32308136 33702744 33720330 +PA34062 5829 HGNC:9718 ENSG00000089159 paxillin PXN Yes No Comparative Toxicogenomics Database:5829, Ensembl:ENSG00000089159, GenAtlas:PXN, GeneCard:PXN, HGNC:HGNC:9718, HumanCyc Gene:HS01639, ModBase:P49023, NCBI Gene:5829, OMIM:602505, RefSeq DNA:NT_009775, RefSeq Protein:NP_001074324, RefSeq Protein:NP_002850, RefSeq Protein:NP_079433, RefSeq RNA:NM_001080855, RefSeq RNA:NM_002859, RefSeq RNA:NM_025157, UCSC Genome Browser:NM_002859, UniProtKB:P49023, UniProtKB:Q59GS5, UniProtKB:Q5HYA4, UniProtKB:Q9BTK0 No chr12 120648242 120703574 120210439 120265771 +PA134958920 222659 HGNC:18312 ENSG00000179165 peroxisomal testis enriched protein 1 PXT1 peroxisomal, testis specific 1 STEPP Yes No Ensembl:ENSG00000179165, GeneCard:PXT1, HGNC:HGNC:18312, HumanCyc Gene:HS17217, NCBI Gene:222659, RefSeq DNA:NT_007592, RefSeq Protein:NP_694535, RefSeq RNA:NM_152990, UniProtKB:Q8NFP0 No chr6 36358328 36410666 36390551 36442889 +PA134964387 92370 HGNC:26303 ENSG00000155893 2-phosphoxylose phosphatase 1 PXYLP1 acid phosphatase-like 2 ACPL2, FLJ23751 Yes No Comparative Toxicogenomics Database:92370, Ensembl:ENSG00000155893, GeneCard:ACPL2, HGNC:HGNC:26303, HumanCyc Gene:HS08078, ModBase:Q8TE99, NCBI Gene:92370, RefSeq DNA:NT_005612, RefSeq Protein:NP_001032249, RefSeq Protein:NP_689495, RefSeq RNA:NM_001037172, RefSeq RNA:NM_152282, UniProtKB:Q8TE99, UniProtKB:Q9NT50 No chr3 140950682 141013486 141231825 141294903 +PA134950175 29108 HGNC:16608 ENSG00000103490 PYD and CARD domain containing PYCARD apoptosis-associated speck-like, apoptosis-associated speck-like protein containing a CARD ASC, CARD5, TMS-1 Yes No Comparative Toxicogenomics Database:29108, Ensembl:ENSG00000103490, GeneCard:PYCARD, HGNC:HGNC:16608, HumanCyc Gene:HS02510, ModBase:Q9ULZ3, NCBI Gene:29108, OMIM:606838, RefSeq DNA:NT_010393, RefSeq Protein:NP_037390, RefSeq Protein:NP_660183, RefSeq RNA:NM_013258, RefSeq RNA:NM_145182, UniProtKB:Q9ULZ3 No chr16 31212807 31214097 31201486 31202776 +PA34064 5831 HGNC:9721 ENSG00000183010 pyrroline-5-carboxylate reductase 1 PYCR1 P5C Yes No Comparative Toxicogenomics Database:5831, Ensembl:ENSG00000183010, GenAtlas:PYCR1, GeneCard:PYCR1, HGNC:HGNC:9721, HumanCyc Gene:HS06848, ModBase:P32322, NCBI Gene:5831, OMIM:179035, OMIM:612940, RefSeq DNA:NG_023032, RefSeq DNA:NT_010663, RefSeq Protein:NP_008838, RefSeq Protein:NP_722546, RefSeq RNA:NM_006907, RefSeq RNA:NM_153824, UCSC Genome Browser:NM_006907, UniProtKB:A6NFM2, UniProtKB:P32322, UniProtKB:Q9HBQ4 No chr17 79890260 79895203 81932384 81937328 +PA134881955 29920 HGNC:30262 ENSG00000143811 pyrroline-5-carboxylate reductase 2 PYCR2 pyrroline-5-carboxylate reductase family, member 2 P5CR2 Yes No Comparative Toxicogenomics Database:29920, Ensembl:ENSG00000143811, GeneCard:PYCR2, HGNC:HGNC:30262, HumanCyc Gene:HS07109, ModBase:Q96C36, NCBI Gene:29920, RefSeq DNA:NT_167186, RefSeq Protein:NP_037460, RefSeq RNA:NM_013328, UniProtKB:Q96C36 No chr1 226107577 226112040 225919877 225924340 +PA134889043 65263 HGNC:25846 ENSG00000104524 pyrroline-5-carboxylate reductase 3 PYCR3 pyrroline-5-carboxylate reductase-like FLJ13852, PYCRL Yes No Comparative Toxicogenomics Database:65263, Ensembl:ENSG00000104524, GeneCard:PYCRL, HGNC:HGNC:25846, HumanCyc Gene:HS02592, ModBase:Q53H96, NCBI Gene:65263, RefSeq DNA:NT_008046, RefSeq Protein:NP_075566, RefSeq RNA:NM_023078, UniProtKB:Q53H96 No chr8 144686083 144691784 143603913 143609614 +PA142671111 260434 HGNC:30261 ENSG00000169900 pyrin domain containing 1 PYDC1 PYD (pyrin domain) containing 1 ASC2, POP1 Yes No Ensembl:ENSG00000169900, GeneCard:PYDC1, HGNC:HGNC:30261, HumanCyc Gene:HS15826, ModBase:Q8WXC3, NCBI Gene:260434, RefSeq DNA:NT_010393, RefSeq Protein:NP_690865, RefSeq RNA:NM_152901, UniProtKB:Q8WXC3 No chr16 31227283 31228398 31215962 31217093 +PA162400524 152138 HGNC:33512 ENSG00000253548 pyrin domain containing 2 PYDC2 POP2 Yes No Ensembl:ENSG00000253548, GeneCard:PYDC2, HGNC:HGNC:33512, ModBase:Q56P42, NCBI Gene:152138, RefSeq DNA:NT_005612, RefSeq Protein:NP_001076777, RefSeq RNA:NM_001083308, UniProtKB:Q56P42 No chr3 191178952 191179245 191461163 191461456 +PA166181613 107181291 HGNC:53781 pyrin domain containing 5 PYDC5 pyrin domain only protein 3 POP3 Yes No HGNC:HGNC:53781, NCBI Gene:107181291 No 0 0 0 0 +PA34066 5834 HGNC:9723 ENSG00000100994 glycogen phosphorylase B PYGB """glycogen phosphorylase, brain form"", ""phosphorylase, glycogen; brain""" Yes No Ensembl:ENSG00000100994, GenAtlas:PYGB, GeneCard:PYGB, HGNC:HGNC:9723, HumanCyc Gene:HS02178, ModBase:P11216, NCBI Gene:5834, OMIM:138550, RefSeq DNA:NT_011387, RefSeq Protein:NP_002853, RefSeq RNA:NM_002862, UCSC Genome Browser:NM_002862, UniProtKB:P11216 No chr20 25228706 25278648 25248070 25298012 +PA34068 5836 HGNC:9725 ENSG00000100504 glycogen phosphorylase L PYGL """Hers disease"", ""glycogen phosphorylase, liver form"", ""glycogen storage disease type VI"", ""phosphorylase, glycogen, liver""" GSD6 Yes Yes Comparative Toxicogenomics Database:5836, Ensembl:ENSG00000100504, GenAtlas:PYGL, GeneCard:PYGL, HGNC:HGNC:9725, HumanCyc Gene:HS02099, ModBase:P06737, NCBI Gene:5836, OMIM:232700, RefSeq DNA:NG_012796, RefSeq DNA:NT_026437, RefSeq Protein:NP_001157412, RefSeq Protein:NP_002854, RefSeq RNA:NM_001163940, RefSeq RNA:NM_002863, UCSC Genome Browser:NM_002863, UniProtKB:P06737 No chr14 51371935 51411248 50905217 50944530 +PA34069 5837 HGNC:9726 ENSG00000068976 glycogen phosphorylase, muscle associated PYGM """McArdle syndrome"", ""glycogen phosphorylase, muscle form"", ""glycogen storage disease type V"", ""myophosphorylase"", ""phosphorylase, glycogen, muscle""" GSD5 Yes No Comparative Toxicogenomics Database:5837, Ensembl:ENSG00000068976, GenAtlas:PYGM, GeneCard:PYGM, HGNC:HGNC:9726, HumanCyc Gene:HS00949, ModBase:P11217, NCBI Gene:5837, OMIM:232600, OMIM:608455, RefSeq DNA:NG_013018, RefSeq DNA:NT_167190, RefSeq Protein:NP_001158188, RefSeq Protein:NP_005600, RefSeq RNA:NM_001164716, RefSeq RNA:NM_005609, UCSC Genome Browser:NM_005609, UniProtKB:A6NDY6, UniProtKB:P11217 No chr11 64513861 64528187 64746389 64760715 +PA134875127 26108 HGNC:30256 ENSG00000171016 pygopus family PHD finger 1 PYGO1 pygopus homolog 1 (Drosophila) Yes No Ensembl:ENSG00000171016, GeneCard:PYGO1, HGNC:HGNC:30256, ModBase:Q9Y3Y4, NCBI Gene:26108, OMIM:606902, RefSeq DNA:NT_010194, RefSeq Protein:NP_056432, RefSeq RNA:NM_015617, UniProtKB:Q9Y3Y4 No chr15 55836805 55881050 55538884 55588852 +PA134881185 90780 HGNC:30257 ENSG00000163348 pygopus family PHD finger 2 PYGO2 pygopus homolog 2 (Drosophila) Yes No Comparative Toxicogenomics Database:90780, Ensembl:ENSG00000163348, GeneCard:PYGO2, HGNC:HGNC:30257, HumanCyc Gene:HS08833, ModBase:Q9BRQ0, NCBI Gene:90780, OMIM:606903, RefSeq DNA:NT_004487, RefSeq Protein:NP_612157, RefSeq RNA:NM_138300, UniProtKB:Q5T170, UniProtKB:Q9BRQ0 No chr1 154929502 154934258 154957026 154961782 +PA134967485 149628 HGNC:28894 ENSG00000163564 pyrin and HIN domain family member 1 PYHIN1 pyrin and HIN domain family, member 1 IFIX, MGC23885 Yes No Ensembl:ENSG00000163564, GeneCard:PYHIN1, HGNC:HGNC:28894, HumanCyc Gene:HS15079, ModBase:Q6K0P9, NCBI Gene:149628, OMIM:612677, RefSeq DNA:NT_004487, RefSeq Protein:NP_689714, RefSeq Protein:NP_945146, RefSeq Protein:NP_945147, RefSeq Protein:NP_945148, RefSeq RNA:NM_152501, RefSeq RNA:NM_198928, RefSeq RNA:NM_198929, RefSeq RNA:NM_198930, UniProtKB:Q6K0P9 No chr1 158901337 158946849 158931177 159010083 +PA142670574 84305 HGNC:30258 ENSG00000170473 PYM homolog 1, exon junction complex associated factor PYM1 partner of Y14 and Mago, within bgcn homolog (Drosophila) PYM, WIBG Yes No Ensembl:ENSG00000170473, GeneCard:WIBG, HGNC:HGNC:30258, HumanCyc Gene:HS15884, ModBase:Q9BRP8, NCBI Gene:84305, RefSeq DNA:NT_029419, RefSeq Protein:NP_001137325, RefSeq Protein:NP_115721, RefSeq RNA:NM_001143853, RefSeq RNA:NM_032345, UniProtKB:Q9BRP8 No chr12 56295197 56321697 55901413 55927913 +PA162400525 79912 HGNC:26162 ENSG00000121350 pyridine nucleotide-disulphide oxidoreductase domain 1 PYROXD1 DKFZp762G094, FLJ22028 Yes No Ensembl:ENSG00000121350, GeneCard:PYROXD1, HGNC:HGNC:26162, HumanCyc Gene:HS04485, ModBase:Q8WU10, NCBI Gene:79912, RefSeq DNA:NT_009714, RefSeq Protein:NP_079130, RefSeq RNA:NM_024854, UniProtKB:Q8WU10 No chr12 21590538 21624184 21437604 21471250 +PA165549043 84795 HGNC:23517 ENSG00000119943 pyridine nucleotide-disulphide oxidoreductase domain 2 PYROXD2 C10orf33, FLJ23849 Yes Yes Ensembl:ENSG00000119943, GeneCard:PYROXD2, HGNC:HGNC:23517, HumanCyc Gene:HS04353, ModBase:Q8N2H3, NCBI Gene:84795, RefSeq DNA:NG_009646, RefSeq DNA:NT_030059, RefSeq Protein:NP_116098, RefSeq Protein:XP_001714423, RefSeq Protein:XP_001725159, RefSeq Protein:XP_001725455, RefSeq RNA:NM_032709, RefSeq RNA:XM_001714371, RefSeq RNA:XM_001725107, RefSeq RNA:XM_001725403, UniProtKB:Q8N2H3 No chr10 100143322 100174978 98383565 98415221 +PA166049121 100996939 HGNC:44317 ENSG00000145337 PIGY upstream open reading frame PYURF PIGY upstream reading frame PreY Yes No Ensembl:ENSG00000145337, HGNC:HGNC:44317, NCBI Gene:100996939 No chr4 89442129 89444952 88520978 88523801 +PA34090 5697 HGNC:9748 ENSG00000131096 peptide YY PYY prepro-PYY PYY1 Yes No Comparative Toxicogenomics Database:5697, Ensembl:ENSG00000131096, GenAtlas:PYY, GeneCard:PYY, HGNC:HGNC:9748, HumanCyc Gene:HS05488, ModBase:P10082, NCBI Gene:5697, OMIM:600781, OMIM:601665, RefSeq DNA:NG_023338, RefSeq DNA:NT_010783, RefSeq Protein:NP_004151, RefSeq RNA:NM_004160, UCSC Genome Browser:NM_004160, UniProtKB:P10082 No chr17 42030101 42081837 43952733 44024260 +PA34091 23615 HGNC:9749 ENSG00000237575 peptide YY, 2 (pseudogene) PYY2 seminalplasmin Yes No Ensembl:ENSG00000237575, GenAtlas:PYY2, GeneCard:PYY2, HGNC:HGNC:9749, HumanCyc Gene:HS17754, NCBI Gene:23615, OMIM:606637, RefSeq DNA:NT_010799, RefSeq RNA:NR_003064, UCSC Genome Browser:NM_021093 No chr17 26553589 26555086 28226563 28228060 +PA145148157 644059 HGNC:31855 ENSG00000181977 peptide YY, 3 (pseudogene) PYY3 OTTHUMG00000021515 Yes No Ensembl:ENSG00000181977, GeneCard:PYY3, HGNC:HGNC:31855, ModBase:Q5JQD4, NCBI Gene:644059, RefSeq DNA:NG_007615, RefSeq DNA:NT_086939 No chrX 49920714 49921244 50156066 50156596 +PA34092 5858 HGNC:9750 ENSG00000126838 PZP alpha-2-macroglobulin like PZP """PZP, alpha-2-macroglobulin like"", ""pregnancy-zone protein""" CPAMD6 Yes No Comparative Toxicogenomics Database:5858, Ensembl:ENSG00000126838, GenAtlas:PZP, GeneCard:PZP, HGNC:HGNC:9750, HumanCyc Gene:HS05053, ModBase:P20742, NCBI Gene:5858, OMIM:176420, RefSeq DNA:NT_009714, RefSeq Protein:NP_002855, RefSeq RNA:NM_002864, UCSC Genome Browser:NM_002864 No chr12 9301436 9360966 9140730 9208370 +PA34093 5859 HGNC:9751 glutaminyl-tRNA synthetase 1 QARS1 glutamine tRNA ligase, glutaminyl-tRNA synthetase QARS Yes No Comparative Toxicogenomics Database:5859, GenAtlas:QARS, GeneCard:QARS, HGNC:HGNC:9751, HumanCyc Gene:HS10441, ModBase:P47897, NCBI Gene:5859, OMIM:603727, RefSeq DNA:NT_022517, RefSeq Protein:NP_005042, RefSeq RNA:NM_005051, UCSC Genome Browser:NM_005051, UniProtKB:P47897 No chr3 49133365 49142562 49095932 49105129 +PA34094 5860 HGNC:9752 ENSG00000151552 quinoid dihydropteridine reductase QDPR """6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1""" DHPR, PKU2, SDR33C1 Yes No Comparative Toxicogenomics Database:5860, Ensembl:ENSG00000151552, GenAtlas:QDPR, GeneCard:QDPR, HGNC:HGNC:9752, HumanCyc Gene:HS07746, ModBase:P09417, NCBI Gene:5860, OMIM:261630, OMIM:612676, RefSeq DNA:NG_008763, RefSeq DNA:NT_006316, RefSeq Protein:NP_000311, RefSeq RNA:NM_000320, UCSC Genome Browser:NM_000320, UniProtKB:P09417 No chr4 17488016 17513857 17486393 17512234 +PA134912180 9444 HGNC:21100 ENSG00000112531 QKI, KH domain containing RNA binding QKI QKI, KH domain containing, RNA binding QK3 Yes No Comparative Toxicogenomics Database:9444, Ensembl:ENSG00000112531, GeneCard:QKI, HGNC:HGNC:21100, ModBase:Q9P0X6, NCBI Gene:9444, OMIM:609590, RefSeq DNA:NT_025741, RefSeq Protein:NP_006766, RefSeq Protein:NP_996735, RefSeq Protein:NP_996736, RefSeq Protein:NP_996737, RefSeq RNA:NM_006775, RefSeq RNA:NM_206853, RefSeq RNA:NM_206854, RefSeq RNA:NM_206855, UniProtKB:Q8WY44, UniProtKB:Q96PU8 No chr6 163835675 163999628 163414486 163578596 +PA134865965 84267 HGNC:28144 ENSG00000165118 Q-nucleotide N-glycosylase 1 QNG1 chromosome 9 open reading frame 64 C9orf64, MGC10999 Yes No Ensembl:ENSG00000165118, GeneCard:C9orf64, HGNC:HGNC:28144, HumanCyc Gene:HS15286, ModBase:Q5T6V5, NCBI Gene:84267, OMIM:611342, RefSeq DNA:NT_008470, RefSeq Protein:NP_115683, RefSeq RNA:NM_032307, UniProtKB:Q5T6V5 No chr9 86553226 86571665 83938311 83956986 +PA34095 25797 HGNC:9753 ENSG00000115828 glutaminyl-peptide cyclotransferase QPCT glutaminyl cyclase GCT, QC Yes No Comparative Toxicogenomics Database:25797, Ensembl:ENSG00000115828, GenAtlas:QPCT, GeneCard:QPCT, HGNC:HGNC:9753, HumanCyc Gene:HS03941, ModBase:Q16769, NCBI Gene:25797, OMIM:607065, RefSeq DNA:NT_022184, RefSeq Protein:NP_036545, RefSeq RNA:NM_012413, UCSC Genome Browser:NM_012413, UniProtKB:Q16769, UniProtKB:Q53TR4 No chr2 37571742 37600465 37344610 37373322 +PA134922163 54814 HGNC:25952 ENSG00000011478 glutaminyl-peptide cyclotransferase like QPCTL glutaminyl cyclase-like, glutaminyl-peptide cyclotransferase-like FLJ20084 Yes No Comparative Toxicogenomics Database:54814, Ensembl:ENSG00000011478, GeneCard:QPCTL, HGNC:HGNC:25952, HumanCyc Gene:HS12044, ModBase:Q9NXS2, NCBI Gene:54814, RefSeq DNA:NT_011109, RefSeq Protein:NP_001156849, RefSeq Protein:NP_060129, RefSeq RNA:NM_001163377, RefSeq RNA:NM_017659, UniProtKB:Q9NXS2 No chr19 46195741 46207248 45692402 45703990 +PA34096 23475 HGNC:9755 ENSG00000103485 quinolinate phosphoribosyltransferase QPRT nicotinate-nucleotide pyrophosphorylase (carboxylating) QPRTase Yes No Comparative Toxicogenomics Database:23475, Ensembl:ENSG00000103485, GenAtlas:QPRT, GeneCard:QPRT, HGNC:HGNC:9755, HumanCyc Gene:HS02508, ModBase:Q15274, NCBI Gene:23475, OMIM:606248, RefSeq DNA:NT_010393, RefSeq Protein:NP_055113, RefSeq RNA:NM_014298, UCSC Genome Browser:NM_014298, UniProtKB:Q15274 No chr16 29690334 29709324 29670588 29698699 +PA162400554 347148 HGNC:29982 ENSG00000188710 pyroglutamylated RFamide peptide QRFP prepro-QRFP 26RFa, P518, prepro-26RFa Yes No Ensembl:ENSG00000188710, GeneCard:QRFP, HGNC:HGNC:29982, NCBI Gene:347148, OMIM:609795, RefSeq DNA:NT_035014, RefSeq Protein:NP_937823, RefSeq RNA:NM_198180, UniProtKB:P83859 No chr9 133768815 133769225 130893428 130896812 +PA164725243 84109 HGNC:15565 ENSG00000186867 pyroglutamylated RFamide peptide receptor QRFPR peptide P518 receptor GPR103 Yes No Ensembl:ENSG00000186867, GeneCard:QRFPR, HGNC:HGNC:15565, IUPHAR Receptor:333, ModBase:Q96P65, NCBI Gene:84109, OMIM:606925, RefSeq DNA:NT_016354, RefSeq Protein:NP_937822, RefSeq RNA:NM_198179, UniProtKB:Q96P65 No chr4 122249797 122302181 121328642 121381029 +PA142671106 54870 HGNC:24713 ENSG00000198218 glutamine rich 1 QRICH1 glutamine-rich 1 AB-DIP, FLJ20259, VERBRAS Yes No Comparative Toxicogenomics Database:54870, Ensembl:ENSG00000198218, GeneCard:QRICH1, HGNC:HGNC:24713, ModBase:Q2TAL8, NCBI Gene:54870, RefSeq DNA:NT_022517, RefSeq Protein:NP_060200, RefSeq Protein:NP_942581, RefSeq RNA:NM_017730, RefSeq RNA:NM_198880, UniProtKB:A1L3Z9, UniProtKB:Q2TAL8 No chr3 49067140 49131504 49029707 49094373 +PA142671107 84074 HGNC:25326 ENSG00000129646 glutamine rich 2 QRICH2 DKFZP434P0316 Yes No Ensembl:ENSG00000129646, GeneCard:QRICH2, HGNC:HGNC:25326, HumanCyc Gene:HS13306, ModBase:Q9H0J4, NCBI Gene:84074, RefSeq DNA:NT_010783, RefSeq Protein:NP_115510, RefSeq RNA:NM_032134, UniProtKB:Q9H0J4 No chr17 74270130 74304771 76271296 76308690 +PA128394680 55278 HGNC:21020 ENSG00000130348 glutaminyl-tRNA amidotransferase subunit QRSL1 QRSL1 """QRSL1, glutaminyl-tRNA amidotransferase subunit A"", ""glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1"", ""glutamyl-tRNA(Gln) amidotransferase, subunit A""" DKFZP564C1278, FLJ10989, FLJ12189, FLJ13447, GatA Yes No Comparative Toxicogenomics Database:55278, Ensembl:ENSG00000130348, GeneCard:QRSL1, HGNC:HGNC:21020, HumanCyc Gene:HS05375, ModBase:Q9H0R6, NCBI Gene:55278, RefSeq DNA:NT_025741, RefSeq Protein:NP_060762, RefSeq RNA:NM_018292, UCSC Genome Browser:NM_018292, UniProtKB:Q9H0R6 No chr6 107077441 107116292 106629566 106668417 +PA143485589 79832 HGNC:26154 ENSG00000060749 glutamine and serine rich 1 QSER1 FLJ21924 Yes No Ensembl:ENSG00000060749, GeneCard:QSER1, HGNC:HGNC:26154, HumanCyc Gene:HS12153, NCBI Gene:79832, RefSeq DNA:NT_009237, RefSeq Protein:NP_001070254, RefSeq RNA:NM_001076786, UniProtKB:B3KWV1, UniProtKB:Q2KHR3 No chr11 32914792 33001816 32892826 32980270 +PA162400559 5768 HGNC:9756 ENSG00000116260 quiescin sulfhydryl oxidase 1 QSOX1 quiescin Q6 sulfhydryl oxidase 1, thiol oxidase 1 QSCN6 Yes No Ensembl:ENSG00000116260, GeneCard:QSOX1, HGNC:HGNC:9756, HumanCyc Gene:HS04002, ModBase:O00391, NCBI Gene:5768, OMIM:603120, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004128, RefSeq Protein:NP_002817, RefSeq RNA:NM_001004128, RefSeq RNA:NM_002826, UniProtKB:O00391 No chr1 180123968 180169430 180154833 180198034 +PA162400588 169714 HGNC:30249 ENSG00000165661 quiescin sulfhydryl oxidase 2 QSOX2 quiescin Q6 sulfhydryl oxidase 2, thiol oxidase 2 DKFZp762A2013, QSCN6L1, SOXN Yes No Ensembl:ENSG00000165661, GeneCard:QSOX2, HGNC:HGNC:30249, ModBase:Q6ZRP7, NCBI Gene:169714, OMIM:612860, RefSeq DNA:NT_019501, RefSeq Protein:NP_859052, RefSeq RNA:NM_181701, UniProtKB:Q6ZRP7 No chr9 139098179 139137687 136206333 136245841 +PA134963074 81890 HGNC:23797 ENSG00000213339 queuine tRNA-ribosyltransferase catalytic subunit 1 QTRT1 queuine tRNA-ribosyltransferase 1, tRNA-guanine transglycosylase TGT Yes No Comparative Toxicogenomics Database:81890, Ensembl:ENSG00000213339, GeneCard:QTRT1, HGNC:HGNC:23797, HumanCyc Gene:HS05270, ModBase:Q9BXR0, NCBI Gene:81890, OMIM:609615, RefSeq DNA:NT_011295, RefSeq Protein:NP_112486, RefSeq RNA:NM_031209, UniProtKB:Q71RF8, UniProtKB:Q9BXR0 No chr19 10812112 10824043 10701436 10713367 +PA134925851 79691 HGNC:25771 ENSG00000151576 queuine tRNA-ribosyltransferase accessory subunit 2 QTRT2 queuine tRNA-ribosyltransferase domain containing 1 FLJ12960, QTRTD1 Yes No Ensembl:ENSG00000151576, GeneCard:QTRTD1, HGNC:HGNC:25771, HumanCyc Gene:HS07747, ModBase:Q9H974, NCBI Gene:79691, RefSeq DNA:NT_005612, RefSeq Protein:NP_078914, RefSeq RNA:NM_024638, UniProtKB:Q9H974 No chr3 113775582 113807269 114056735 114088422 +PA142671108 203069 HGNC:27329 ENSG00000104679 R3H domain and coiled-coil containing 1 R3HCC1 DKFZp564N123 Yes No Ensembl:ENSG00000104679, GeneCard:R3HCC1, HGNC:HGNC:27329, ModBase:Q9Y3T6, NCBI Gene:203069, RefSeq DNA:NT_167187, RefSeq Protein:NP_001129580, RefSeq RNA:NM_001136108, UniProtKB:B7ZLI1, UniProtKB:Q9Y3T6 No chr8 23145442 23153792 23288092 23296279 +PA134939071 27291 HGNC:23512 ENSG00000166024 R3H domain and coiled-coil containing 1 like R3HCC1L R3H domain and coiled-coil containing 1-like C10orf28, GIDRP86, GIDRP88, PSORT Yes No Ensembl:ENSG00000166024, GeneCard:C10orf28, HGNC:HGNC:23512, HumanCyc Gene:HS17360, NCBI Gene:27291, RefSeq DNA:NT_030059, RefSeq Protein:NP_055287, RefSeq RNA:NM_014472, UniProtKB:Q4KMY3 No chr10 99894381 100004654 98134608 98244897 +PA34098 23518 HGNC:9757 ENSG00000048991 R3H domain containing 1 R3HDM1 KIAA0029, R3HDM Yes No Ensembl:ENSG00000048991, GenAtlas:R3HDM1, GeneCard:R3HDM1, HGNC:HGNC:9757, HumanCyc Gene:HS00609, ModBase:Q15032, NCBI Gene:23518, RefSeq DNA:NT_022135, RefSeq Protein:NP_056176, RefSeq RNA:NM_015361, UCSC Genome Browser:NM_015361, UniProtKB:Q15032 No chr2 136289036 136482839 135531429 135725270 +PA143485590 22864 HGNC:29167 ENSG00000179912 R3H domain containing 2 R3HDM2 KIAA1002 Yes No Ensembl:ENSG00000179912, GeneCard:R3HDM2, HGNC:HGNC:29167, NCBI Gene:22864, RefSeq DNA:NT_029419, RefSeq Protein:NP_055740, RefSeq RNA:NM_014925, UniProtKB:Q9Y2K5 No chr12 57647547 57824782 57253764 57430999 +PA134902004 91300 HGNC:28270 ENSG00000198858 R3H domain containing 4 R3HDM4 C19orf22, MGC16353 Yes No Ensembl:ENSG00000198858, GeneCard:C19orf22, HGNC:HGNC:28270, ModBase:Q96D70, NCBI Gene:91300, RefSeq DNA:NT_011255, RefSeq Protein:NP_620129, RefSeq RNA:NM_138774, UniProtKB:Q96D70 No chr19 896503 913225 896503 913225 +PA34099 140902 HGNC:16249 ENSG00000101074 R3H domain containing like R3HDML R3H domain containing-like dJ881L22.3 Yes No Ensembl:ENSG00000101074, GenAtlas:R3HDML, GeneCard:R3HDML, HGNC:HGNC:16249, ModBase:Q9H3Y0, NCBI Gene:140902, RefSeq DNA:NT_011362, RefSeq Protein:NP_848586, RefSeq RNA:NM_178491, UCSC Genome Browser:NM_178491, UniProtKB:Q9H3Y0 No chr20 42965798 42979432 44337158 44350792 +PA34100 10890 HGNC:9759 ENSG00000084733 RAB10, member RAS oncogene family RAB10 ras-related GTP-binding protein Yes No Comparative Toxicogenomics Database:10890, Ensembl:ENSG00000084733, GenAtlas:RAB10, GeneCard:RAB10, HGNC:HGNC:9759, HumanCyc Gene:HS01479, ModBase:P61026, NCBI Gene:10890, OMIM:612672, RefSeq DNA:NT_022184, RefSeq Protein:NP_057215, RefSeq RNA:NM_016131, UCSC Genome Browser:NM_016131, UniProtKB:P61026 No chr2 26256729 26360323 26033860 26137454 +PA34101 8766 HGNC:9760 ENSG00000103769 RAB11A, member RAS oncogene family RAB11A YL8 Yes No Comparative Toxicogenomics Database:8766, Ensembl:ENSG00000103769, GenAtlas:RAB11A, GeneCard:RAB11A, HGNC:HGNC:9760, HumanCyc Gene:HS02533, ModBase:P62491, NCBI Gene:8766, OMIM:605570, RefSeq DNA:NT_010194, RefSeq Protein:NP_001193765, RefSeq Protein:NP_004654, RefSeq RNA:NM_001206836, RefSeq RNA:NM_004663, UCSC Genome Browser:NM_004663, UniProtKB:P62491 No chr15 66161629 66184329 65869459 65891991 +PA34102 9230 HGNC:9761 ENSG00000185236 RAB11B, member RAS oncogene family RAB11B H-YPT3 Yes No Comparative Toxicogenomics Database:9230, Ensembl:ENSG00000185236, GenAtlas:RAB11B, GeneCard:RAB11B, HGNC:HGNC:9761, ModBase:Q15907, NCBI Gene:9230, OMIM:604198, RefSeq DNA:NT_077812, RefSeq Protein:NP_004209, RefSeq RNA:NM_004218, UCSC Genome Browser:NM_004218, UniProtKB:Q15907 No chr19 8455205 8469318 8390321 8404434 +PA134937501 80223 HGNC:30265 ENSG00000156675 RAB11 family interacting protein 1 RAB11FIP1 RAB11 family interacting protein 1 (class I) FLJ22524, FLJ22622, RCP, Rab11-FIP1 Yes No Comparative Toxicogenomics Database:80223, Ensembl:ENSG00000156675, GeneCard:RAB11FIP1, HGNC:HGNC:30265, HumanCyc Gene:HS14630, ModBase:Q6WKZ4, NCBI Gene:80223, OMIM:608737, RefSeq DNA:NT_167187, RefSeq Protein:NP_001002233, RefSeq Protein:NP_001002814, RefSeq Protein:NP_079427, RefSeq RNA:NM_001002233, RefSeq RNA:NM_001002814, RefSeq RNA:NM_025151, UniProtKB:Q6WKZ4 No chr8 37716465 37757015 37858947 37899516 +PA134961225 22841 HGNC:29152 ENSG00000107560 RAB11 family interacting protein 2 RAB11FIP2 RAB11 family interacting protein 2 (class I) KIAA0941, Rab11-FIP2, nRip11 Yes No Comparative Toxicogenomics Database:22841, Ensembl:ENSG00000107560, GeneCard:RAB11FIP2, HGNC:HGNC:29152, HumanCyc Gene:HS12655, ModBase:Q7L804, NCBI Gene:22841, OMIM:608599, RefSeq DNA:NT_030059, RefSeq Protein:NP_055719, RefSeq RNA:NM_014904, UniProtKB:Q7L804 No chr10 119764427 119806297 118004916 118046921 +PA134950896 9727 HGNC:17224 ENSG00000090565 RAB11 family interacting protein 3 RAB11FIP3 RAB11 family interacting protein 3 (class II), arfophilin-1 KIAA0665, Rab11-FIP3, eferin Yes No Comparative Toxicogenomics Database:9727, Ensembl:ENSG00000090565, GeneCard:RAB11FIP3, HGNC:HGNC:17224, HumanCyc Gene:HS01697, ModBase:O75154, NCBI Gene:9727, OMIM:608738, RefSeq DNA:NT_010393, RefSeq Protein:NP_001135744, RefSeq Protein:NP_055515, RefSeq RNA:NM_001142272, RefSeq RNA:NM_014700, UniProtKB:O75154 No chr16 475649 572485 425621 522485 +PA134978007 84440 HGNC:30267 ENSG00000131242 RAB11 family interacting protein 4 RAB11FIP4 RAB11 family interacting protein 4 (class II) FLJ00131, KIAA1821, MGC11316, RAB11-FIP4 Yes No Comparative Toxicogenomics Database:84440, Ensembl:ENSG00000131242, GeneCard:RAB11FIP4, HGNC:HGNC:30267, HumanCyc Gene:HS05507, ModBase:Q86YS3, NCBI Gene:84440, OMIM:611999, RefSeq DNA:NT_010799, RefSeq Protein:NP_116321, RefSeq RNA:NM_032932, UniProtKB:Q86YS3 No chr17 29718642 29865232 31391624 31538217 +PA134971129 26056 HGNC:24845 ENSG00000135631 RAB11 family interacting protein 5 RAB11FIP5 RAB11 family interacting protein 5 (class I) GAF1, KIAA0857, RIP11, pp75 Yes No Ensembl:ENSG00000135631, GeneCard:RAB11FIP5, HGNC:HGNC:24845, HumanCyc Gene:HS06040, ModBase:Q9BXF6, NCBI Gene:26056, OMIM:605536, RefSeq DNA:NT_022184, RefSeq Protein:NP_056285, RefSeq RNA:NM_015470, UniProtKB:Q9BXF6 No chr2 73300510 73340146 73073382 73113018 +PA142671102 201475 HGNC:31332 ENSG00000206418 RAB12, member RAS oncogene family RAB12 Yes No Ensembl:ENSG00000206418, GeneCard:RAB12, HGNC:HGNC:31332, ModBase:Q6IQ22, NCBI Gene:201475, RefSeq DNA:NT_010859, RefSeq Protein:NP_001020471, RefSeq RNA:NM_001025300, UniProtKB:Q6IQ22 No chr18 8609443 8639380 8609428 8639383 +PA34103 5872 HGNC:9762 ENSG00000143545 RAB13, member RAS oncogene family RAB13 Yes No Comparative Toxicogenomics Database:5872, Ensembl:ENSG00000143545, GenAtlas:RAB13, GeneCard:RAB13, HGNC:HGNC:9762, HumanCyc Gene:HS07073, ModBase:P51153, NCBI Gene:5872, OMIM:602672, RefSeq DNA:NT_004487, RefSeq Protein:NP_002861, RefSeq RNA:NM_002870, UCSC Genome Browser:NM_002870, UniProtKB:P51153 No chr1 153954093 153958853 153981617 153990644 +PA34104 51552 HGNC:16524 ENSG00000119396 RAB14, member RAS oncogene family RAB14 F protein-binding protein 1, bA165P4.3 (member RAS oncogene family), small GTP binding protein RAB14 FBP, RAB-14 Yes No Comparative Toxicogenomics Database:51552, Ensembl:ENSG00000119396, GenAtlas:RAB14, GeneCard:RAB14, HGNC:HGNC:16524, HumanCyc Gene:HS04288, ModBase:P61106, NCBI Gene:51552, OMIM:612673, RefSeq DNA:NT_008470, RefSeq Protein:NP_057406, RefSeq RNA:NM_016322, UCSC Genome Browser:NM_016322, UniProtKB:P61106 No chr9 123940415 123964365 121178137 121202087 +PA134901572 376267 HGNC:20150 ENSG00000139998 RAB15, member RAS oncogene family RAB15 Yes No Comparative Toxicogenomics Database:376267, Ensembl:ENSG00000139998, GeneCard:RAB15, HGNC:HGNC:20150, ModBase:P59190, NCBI Gene:376267, RefSeq DNA:NT_026437, RefSeq Protein:NP_941959, RefSeq RNA:NM_198686, UniProtKB:P59190 No chr14 65412532 65439016 64945814 64972197 +PA34105 64284 HGNC:16523 ENSG00000124839 RAB17, member RAS oncogene family RAB17 Yes No Ensembl:ENSG00000124839, GenAtlas:RAB17, GeneCard:RAB17, HGNC:HGNC:16523, HumanCyc Gene:HS04844, ModBase:Q9H0T7, NCBI Gene:64284, OMIM:602206, RefSeq DNA:NT_005120, RefSeq Protein:NP_071894, RefSeq RNA:NM_022449, RefSeq RNA:NR_033308, UCSC Genome Browser:NM_022449, UniProtKB:Q6PJZ0, UniProtKB:Q9H0T7 No chr2 238482965 238499769 237574322 237591126 +PA34106 22931 HGNC:14244 ENSG00000099246 RAB18, member RAS oncogene family RAB18 Yes No Ensembl:ENSG00000099246, GenAtlas:RAB18, GeneCard:RAB18, HGNC:HGNC:14244, HumanCyc Gene:HS01881, ModBase:Q9NP72, NCBI Gene:22931, OMIM:602207, RefSeq DNA:NT_008705, RefSeq Protein:NP_067075, RefSeq RNA:NM_021252, UCSC Genome Browser:NM_021252, UniProtKB:Q9NP72 No chr10 27793103 27831166 27504174 27542237 +PA162400617 401409 HGNC:19982 ENSG00000146955 RAB19, member RAS oncogene family RAB19 RAB19B Yes No Ensembl:ENSG00000146955, GeneCard:RAB19, HGNC:HGNC:19982, NCBI Gene:401409, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001008749, RefSeq RNA:NM_001008749, UniProtKB:A4D1S5 No chr7 140103843 140126653 140403740 140426881 +PA34107 5861 HGNC:9758 ENSG00000138069 RAB1A, member RAS oncogene family RAB1A Rab GTPase YPT1 homolog (yeast) RAB1, YPT1 Yes No Comparative Toxicogenomics Database:5861, Ensembl:ENSG00000138069, GenAtlas:RAB1A, GeneCard:RAB1A, HGNC:HGNC:9758, HumanCyc Gene:HS06444, ModBase:P62820, NCBI Gene:5861, OMIM:179508, RefSeq DNA:NT_022184, RefSeq Protein:NP_004152, RefSeq Protein:NP_056358, RefSeq RNA:NM_004161, RefSeq RNA:NM_015543, UCSC Genome Browser:NM_004161, UniProtKB:P62820, UniProtKB:Q5U0I6 No chr2 65313988 65357435 65086854 65130301 +PA34108 81876 HGNC:18370 ENSG00000174903 RAB1B, member RAS oncogene family RAB1B Yes No Ensembl:ENSG00000174903, GenAtlas:RAB1B, GeneCard:RAB1B, HGNC:HGNC:18370, HumanCyc Gene:HS10844, ModBase:Q9H0U4, NCBI Gene:81876, OMIM:612565, RefSeq DNA:NT_167190, RefSeq Protein:NP_112243, RefSeq RNA:NM_030981, UCSC Genome Browser:NM_030981, UniProtKB:Q9H0U4 No chr11 66036056 66044963 66268526 66277492 +PA142671109 441400 HGNC:23683 ENSG00000233111 RAB1C, member RAS oncogene family pseudogene RAB1C Yes No Ensembl:ENSG00000233111, GeneCard:RAB1C, HGNC:HGNC:23683, NCBI Gene:441400, RefSeq DNA:NG_005395, RefSeq DNA:NT_008413 No chr9 37636685 37637290 37636688 37637293 +PA34110 55647 HGNC:18260 ENSG00000139832 RAB20, member RAS oncogene family RAB20 FLJ20429 Yes No Comparative Toxicogenomics Database:55647, Ensembl:ENSG00000139832, GenAtlas:RAB20, GeneCard:RAB20, HGNC:HGNC:18260, HumanCyc Gene:HS06660, ModBase:Q9NX57, NCBI Gene:55647, RefSeq DNA:NT_009952, RefSeq Protein:NP_060287, RefSeq RNA:NM_017817, UCSC Genome Browser:NM_017817, UniProtKB:Q9NX57 No chr13 111175413 111214071 110523066 110561737 +PA34111 23011 HGNC:18263 ENSG00000080371 RAB21, member RAS oncogene family RAB21 KIAA0118 Yes No Comparative Toxicogenomics Database:23011, Ensembl:ENSG00000080371, GenAtlas:RAB21, GeneCard:RAB21, HGNC:HGNC:18263, HumanCyc Gene:HS01354, ModBase:Q9UL25, NCBI Gene:23011, OMIM:612398, RefSeq DNA:NT_029419, RefSeq Protein:NP_055814, RefSeq RNA:NM_014999, UCSC Genome Browser:NM_014999, UniProtKB:Q9UL25 No chr12 72148658 72181150 71754863 71793476 +PA34112 57403 HGNC:9764 ENSG00000124209 RAB22A, member RAS oncogene family RAB22A Yes No Comparative Toxicogenomics Database:57403, Ensembl:ENSG00000124209, GenAtlas:RAB22A, GeneCard:RAB22A, HGNC:HGNC:9764, HumanCyc Gene:HS04737, ModBase:Q9UL26, NCBI Gene:57403, OMIM:612966, RefSeq DNA:NT_011362, RefSeq Protein:NP_065724, RefSeq RNA:NM_020673, UCSC Genome Browser:NM_020673, UniProtKB:Q9UL26 No chr20 56884771 56942563 58309715 58367507 +PA34113 51715 HGNC:14263 ENSG00000112210 RAB23, member RAS oncogene family RAB23 Yes No Comparative Toxicogenomics Database:51715, Ensembl:ENSG00000112210, GenAtlas:RAB23, GeneCard:RAB23, HGNC:HGNC:14263, HumanCyc Gene:HS03532, ModBase:Q9ULC3, NCBI Gene:51715, OMIM:201000, OMIM:606144, RefSeq DNA:NG_012170, RefSeq DNA:NT_007592, RefSeq Protein:NP_057361, RefSeq Protein:NP_899050, RefSeq RNA:NM_016277, RefSeq RNA:NM_183227, UCSC Genome Browser:NM_016277, UniProtKB:Q9ULC3 No chr6 57051790 57087112 57186992 57222314 +PA34114 53917 HGNC:9765 ENSG00000169228 RAB24, member RAS oncogene family RAB24 Yes No Ensembl:ENSG00000169228, GenAtlas:RAB24, GeneCard:RAB24, HGNC:HGNC:9765, ModBase:Q969Q5, NCBI Gene:53917, OMIM:612415, RefSeq DNA:NT_023133, RefSeq Protein:NP_001026847, RefSeq Protein:NP_570137, RefSeq RNA:NM_001031677, RefSeq RNA:NM_130781, UCSC Genome Browser:NM_130781, UniProtKB:Q969Q5 No chr5 176728199 176730744 177301190 177303744 +PA34115 57111 HGNC:18238 ENSG00000132698 RAB25, member RAS oncogene family RAB25 CATX-8 Yes No Comparative Toxicogenomics Database:57111, Ensembl:ENSG00000132698, GenAtlas:RAB25, GeneCard:RAB25, HGNC:HGNC:18238, HumanCyc Gene:HS05680, ModBase:P57735, NCBI Gene:57111, OMIM:612942, RefSeq DNA:NT_004487, RefSeq Protein:NP_065120, RefSeq RNA:NM_020387, UCSC Genome Browser:NM_020387, UniProtKB:P57735 No chr1 156030966 156040295 156061149 156070514 +PA34116 25837 HGNC:14259 ENSG00000167964 RAB26, member RAS oncogene family RAB26 Yes No Ensembl:ENSG00000167964, GenAtlas:RAB26, GeneCard:RAB26, HGNC:HGNC:14259, HumanCyc Gene:HS09664, ModBase:Q9ULW5, NCBI Gene:25837, OMIM:605455, RefSeq DNA:NT_010393, RefSeq Protein:NP_055168, RefSeq RNA:NM_014353, UCSC Genome Browser:NM_014353, UniProtKB:Q3L6K5, UniProtKB:Q9ULW5 No chr16 2198145 2204141 2148144 2154165 +PA34117 5873 HGNC:9766 ENSG00000069974 RAB27A, member RAS oncogene family RAB27A GS2, HsT18676, RAB27, RAM Yes Yes Comparative Toxicogenomics Database:5873, Ensembl:ENSG00000069974, GenAtlas:RAB27A, GeneCard:RAB27A, HGNC:HGNC:9766, HumanCyc Gene:HS00977, ModBase:P51159, NCBI Gene:5873, OMIM:603868, OMIM:607624, RefSeq DNA:NG_009103, RefSeq DNA:NT_010194, RefSeq Protein:NP_004571, RefSeq Protein:NP_899057, RefSeq Protein:NP_899058, RefSeq Protein:NP_899059, RefSeq RNA:NM_004580, RefSeq RNA:NM_183234, RefSeq RNA:NM_183235, RefSeq RNA:NM_183236, UCSC Genome Browser:NM_004580, UniProtKB:A2RU94, UniProtKB:P51159 No chr15 55495164 55582034 55202966 55291188 +PA34118 5874 HGNC:9767 ENSG00000041353 RAB27B, member RAS oncogene family RAB27B Yes No Comparative Toxicogenomics Database:5874, Ensembl:ENSG00000041353, GenAtlas:RAB27B, GeneCard:RAB27B, HGNC:HGNC:9767, HumanCyc Gene:HS00552, ModBase:O00194, NCBI Gene:5874, OMIM:603869, RefSeq DNA:NT_025028, RefSeq Protein:NP_004154, RefSeq RNA:NM_004163, UCSC Genome Browser:NM_004163, UniProtKB:O00194 No chr18 52385097 52562747 54717842 54895516 +PA34119 9364 HGNC:9768 ENSG00000157869 RAB28, member RAS oncogene family RAB28 Yes No Ensembl:ENSG00000157869, GenAtlas:RAB28, GeneCard:RAB28, HGNC:HGNC:9768, HumanCyc Gene:HS08247, ModBase:P51157, NCBI Gene:9364, OMIM:612994, RefSeq DNA:NT_006316, RefSeq Protein:NP_001017979, RefSeq Protein:NP_001153073, RefSeq Protein:NP_004240, RefSeq RNA:NM_001017979, RefSeq RNA:NM_001159601, RefSeq RNA:NM_004249, UCSC Genome Browser:NM_004249, UniProtKB:P51157 No chr4 13343863 13485989 13293479 13484365 +PA34151 8934 HGNC:9789 ENSG00000117280 RAB29, member RAS oncogene family RAB29 RAB7, member RAS oncogene family-like 1 RAB7L, RAB7L1 Yes No Comparative Toxicogenomics Database:8934, Ensembl:ENSG00000117280, GenAtlas:RAB7L1, GeneCard:RAB7L1, HGNC:HGNC:9789, HumanCyc Gene:HS04112, ModBase:O14966, NCBI Gene:8934, OMIM:603949, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129134, RefSeq Protein:NP_001129135, RefSeq Protein:NP_001129136, RefSeq Protein:NP_003920, RefSeq RNA:NM_001135662, RefSeq RNA:NM_001135663, RefSeq RNA:NM_001135664, RefSeq RNA:NM_003929, UCSC Genome Browser:NM_003929, UniProtKB:B2R7I9, UniProtKB:B4E1K3, UniProtKB:C9JE77, UniProtKB:O14966, UniProtKB:Q6FGU7 No chr1 205737114 205744615 205767986 205775487 +PA162400618 5862 HGNC:9763 ENSG00000104388 RAB2A, member RAS oncogene family RAB2A RAB2 Yes No Ensembl:ENSG00000104388, GeneCard:RAB2A, HGNC:HGNC:9763, HumanCyc Gene:HS02577, ModBase:P61019, NCBI Gene:5862, OMIM:179509, RefSeq DNA:NT_008183, RefSeq Protein:NP_001229573, RefSeq Protein:NP_002856, RefSeq RNA:NM_001242644, RefSeq RNA:NM_002865, UniProtKB:P61019 No chr8 61429469 61536203 60516910 60623644 +PA134865942 84932 HGNC:20246 ENSG00000129472 RAB2B, member RAS oncogene family RAB2B FLJ14824 Yes No Comparative Toxicogenomics Database:84932, Ensembl:ENSG00000129472, GeneCard:RAB2B, HGNC:HGNC:20246, HumanCyc Gene:HS05282, ModBase:Q8WUD1, NCBI Gene:84932, OMIM:607466, RefSeq DNA:NT_026437, RefSeq Protein:NP_001156852, RefSeq Protein:NP_116235, RefSeq RNA:NM_001163380, RefSeq RNA:NM_032846, RefSeq RNA:NR_028074, UniProtKB:B4DUD4, UniProtKB:Q6NZ33, UniProtKB:Q8WUD1 No chr14 21927179 21945132 21459020 21476973 +PA34121 27314 HGNC:9770 ENSG00000137502 RAB30, member RAS oncogene family RAB30 Yes No Comparative Toxicogenomics Database:27314, Ensembl:ENSG00000137502, GenAtlas:RAB30, GeneCard:RAB30, HGNC:HGNC:9770, HumanCyc Gene:HS06353, ModBase:Q15771, NCBI Gene:27314, OMIM:605693, RefSeq DNA:NT_167190, RefSeq Protein:NP_055303, RefSeq RNA:NM_014488, UCSC Genome Browser:NM_014488, UniProtKB:A8K5R1, UniProtKB:Q15771 No chr11 82684177 82782965 82973133 83071923 +PA34122 11031 HGNC:9771 ENSG00000168461 RAB31, member RAS oncogene family RAB31 Rab22B Yes No Comparative Toxicogenomics Database:11031, Ensembl:ENSG00000168461, GenAtlas:RAB31, GeneCard:RAB31, HGNC:HGNC:9771, HumanCyc Gene:HS09766, ModBase:Q13636, NCBI Gene:11031, OMIM:605694, RefSeq DNA:NT_010859, RefSeq Protein:NP_006859, RefSeq RNA:NM_006868, UCSC Genome Browser:NM_006868, UniProtKB:Q13636 No chr18 9708228 9862553 9707971 9862556 +PA34123 10981 HGNC:9772 ENSG00000118508 RAB32, member RAS oncogene family RAB32 Yes No Comparative Toxicogenomics Database:10981, Ensembl:ENSG00000118508, GenAtlas:RAB32, GeneCard:RAB32, HGNC:HGNC:9772, HumanCyc Gene:HS04227, ModBase:Q13637, NCBI Gene:10981, OMIM:612906, RefSeq DNA:NT_025741, RefSeq Protein:NP_006825, RefSeq RNA:NM_006834, UCSC Genome Browser:NM_006834, UniProtKB:Q13637 No chr6 146864828 146876086 146543692 146554956 +PA34124 9363 HGNC:9773 ENSG00000134594 RAB33A, member RAS oncogene family RAB33A RabS10 Yes No Ensembl:ENSG00000134594, GenAtlas:RAB33A, GeneCard:RAB33A, HGNC:HGNC:9773, HumanCyc Gene:HS05891, ModBase:Q14088, NCBI Gene:9363, OMIM:300333, RefSeq DNA:NG_012558, RefSeq DNA:NT_011786, RefSeq Protein:NP_004785, RefSeq RNA:NM_004794, UCSC Genome Browser:NM_004794, UniProtKB:Q14088 No chrX 129305773 129318844 130110633 130184872 +PA34125 83452 HGNC:16075 ENSG00000172007 RAB33B, member RAS oncogene family RAB33B DKFZP434G099 Yes No Ensembl:ENSG00000172007, GenAtlas:RAB33B, GeneCard:RAB33B, HGNC:HGNC:16075, HumanCyc Gene:HS10432, ModBase:Q9H082, NCBI Gene:83452, OMIM:605950, RefSeq DNA:NT_016354, RefSeq Protein:NP_112586, RefSeq RNA:NM_031296, UCSC Genome Browser:NM_031296, UniProtKB:Q9H082 No chr4 140374961 140397070 139453232 139475916 +PA34126 83871 HGNC:16519 ENSG00000109113 RAB34, member RAS oncogene family RAB34 nine-amino acid residue-repeats NARR, RAB39, RAH Yes No Comparative Toxicogenomics Database:83871, Ensembl:ENSG00000109113, GenAtlas:RAB34, GeneCard:RAB34, HGNC:HGNC:16519, HumanCyc Gene:HS03202, ModBase:Q9BZG1, NCBI Gene:83871, OMIM:610917, RefSeq DNA:NT_010799, RefSeq Protein:NP_001136096, RefSeq Protein:NP_001136097, RefSeq Protein:NP_001138414, RefSeq Protein:NP_001138415, RefSeq Protein:NP_114140, RefSeq RNA:NM_001142624, RefSeq RNA:NM_001142625, RefSeq RNA:NM_001144942, RefSeq RNA:NM_001144943, RefSeq RNA:NM_031934, RefSeq RNA:NR_024575, RefSeq RNA:NR_024579, UCSC Genome Browser:NM_031934, UniProtKB:B4DNC0, UniProtKB:Q96PJ7, UniProtKB:Q9BZG1 No chr17 27041299 27045286 28714281 28718268 +PA34127 11021 HGNC:9774 ENSG00000111737 RAB35, member RAS oncogene family RAB35 H-ray Yes No Comparative Toxicogenomics Database:11021, Ensembl:ENSG00000111737, GenAtlas:RAB35, GeneCard:RAB35, HGNC:HGNC:9774, HumanCyc Gene:HS03460, ModBase:Q15286, NCBI Gene:11021, OMIM:604199, RefSeq DNA:NT_009775, RefSeq Protein:NP_001161078, RefSeq Protein:NP_006852, RefSeq RNA:NM_001167606, RefSeq RNA:NM_006861, UCSC Genome Browser:NM_006861, UniProtKB:Q15286 No chr12 120532899 120554643 120095094 120116839 +PA34128 9609 HGNC:9775 ENSG00000100228 RAB36, member RAS oncogene family RAB36 Yes No Comparative Toxicogenomics Database:9609, Ensembl:ENSG00000100228, GenAtlas:RAB36, GeneCard:RAB36, HGNC:HGNC:9775, HumanCyc Gene:HS02011, ModBase:O95755, NCBI Gene:9609, OMIM:605662, RefSeq DNA:NT_011520, RefSeq Protein:NP_004905, RefSeq RNA:NM_004914, UCSC Genome Browser:NM_004914, UniProtKB:O95755 No chr22 23487513 23506531 23145298 23169285 +PA134901093 326624 HGNC:30268 ENSG00000172794 RAB37, member RAS oncogene family RAB37 Yes No Ensembl:ENSG00000172794, GeneCard:RAB37, HGNC:HGNC:30268, ModBase:Q96AX2, NCBI Gene:326624, OMIM:609956, RefSeq DNA:NT_010783, RefSeq Protein:NP_001006639, RefSeq Protein:NP_001157461, RefSeq Protein:NP_001157462, RefSeq Protein:NP_783865, RefSeq RNA:NM_001006638, RefSeq RNA:NM_001163989, RefSeq RNA:NM_001163990, RefSeq RNA:NM_175738, UniProtKB:A8MXF5, UniProtKB:A8MYT0, UniProtKB:Q8IWA7, UniProtKB:Q96AX2 No chr17 72667256 72743474 74671117 74747335 +PA34129 23682 HGNC:9776 ENSG00000123892 RAB38, member RAS oncogene family RAB38 NY-MEL-1 Yes No Comparative Toxicogenomics Database:23682, Ensembl:ENSG00000123892, GenAtlas:RAB38, GeneCard:RAB38, HGNC:HGNC:9776, HumanCyc Gene:HS04697, ModBase:P57729, NCBI Gene:23682, OMIM:606281, RefSeq DNA:NT_167190, RefSeq Protein:NP_071732, RefSeq RNA:NM_022337, UCSC Genome Browser:NM_022337, UniProtKB:P57729 No chr11 87846415 87908635 87809490 88175505 +PA34130 54734 HGNC:16521 ENSG00000179331 RAB39A, member RAS oncogene family RAB39A rab-related GTP-binding protein RAB39 Yes No Ensembl:ENSG00000179331, GenAtlas:RAB39, GeneCard:RAB39, HGNC:HGNC:16521, HumanCyc Gene:HS11370, ModBase:Q14964, NCBI Gene:54734, RefSeq DNA:NT_033899, RefSeq Protein:NP_059986, RefSeq RNA:NM_017516, UniProtKB:Q14964 No chr11 107799277 107834208 107928475 107963482 +PA34131 116442 HGNC:16499 ENSG00000155961 RAB39B, member RAS oncogene family RAB39B MRX72, WSN Yes No Ensembl:ENSG00000155961, GenAtlas:RAB39B, GeneCard:RAB39B, HGNC:HGNC:16499, HumanCyc Gene:HS08085, ModBase:Q96DA2, NCBI Gene:116442, OMIM:300271, OMIM:300774, RefSeq DNA:NG_005114, RefSeq DNA:NG_012626, RefSeq DNA:NT_167198, RefSeq Protein:NP_741995, RefSeq RNA:NM_171998, UCSC Genome Browser:NM_171998, UniProtKB:Q96DA2 No chrX 154487526 154493852 155258234 155264589 +PA34132 5864 HGNC:9777 ENSG00000105649 RAB3A, member RAS oncogene family RAB3A RAS-associated protein RAB3A Yes No Comparative Toxicogenomics Database:5864, Ensembl:ENSG00000105649, GenAtlas:RAB3A, GeneCard:RAB3A, HGNC:HGNC:9777, HumanCyc Gene:HS02780, ModBase:P20336, NCBI Gene:5864, OMIM:179490, RefSeq DNA:NT_011295, RefSeq Protein:NP_002857, RefSeq RNA:NM_002866, UCSC Genome Browser:NM_002866, UniProtKB:P20336 No chr19 18307609 18314874 18196799 18204064 +PA34133 5865 HGNC:9778 ENSG00000169213 RAB3B, member RAS oncogene family RAB3B Yes No Comparative Toxicogenomics Database:5865, Ensembl:ENSG00000169213, GenAtlas:RAB3B, GeneCard:RAB3B, HGNC:HGNC:9778, HumanCyc Gene:HS09902, ModBase:P20337, NCBI Gene:5865, OMIM:179510, RefSeq DNA:NT_032977, RefSeq Protein:NP_002858, RefSeq RNA:NM_002867, UCSC Genome Browser:NM_002867, UniProtKB:P20337 No chr1 52373628 52456436 51907956 51990764 +PA134874100 115827 HGNC:30269 ENSG00000152932 RAB3C, member RAS oncogene family RAB3C Yes No Ensembl:ENSG00000152932, GeneCard:RAB3C, HGNC:HGNC:30269, HumanCyc Gene:HS07862, ModBase:Q96E17, NCBI Gene:115827, OMIM:612829, RefSeq DNA:NT_006713, RefSeq Protein:NP_612462, RefSeq RNA:NM_138453, UniProtKB:Q96E17 No chr5 57877950 58155221 58582188 58859394 +PA34134 9545 HGNC:9779 ENSG00000105514 RAB3D, member RAS oncogene family RAB3D Rab3D upregulated with myeloid differentiation, glioblastoma overexpressed D2-2, GOV, RAB16, RAD3D Yes No Comparative Toxicogenomics Database:9545, Ensembl:ENSG00000105514, GenAtlas:RAB3D, GeneCard:RAB3D, HGNC:HGNC:9779, HumanCyc Gene:HS02754, ModBase:O95716, NCBI Gene:9545, OMIM:604350, RefSeq DNA:NT_011295, RefSeq Protein:NP_004274, RefSeq RNA:NM_004283, UCSC Genome Browser:NM_004283, UniProtKB:O95716 No chr19 11432722 11450344 11322046 11339668 +PA134969639 22930 HGNC:17063 ENSG00000115839 RAB3 GTPase activating protein catalytic subunit 1 RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) KIAA0066, RAB3GAP, RAB3GAP130, WARBM1 Yes No Comparative Toxicogenomics Database:22930, Ensembl:ENSG00000115839, GeneCard:RAB3GAP1, HGNC:HGNC:17063, ModBase:Q15042, NCBI Gene:22930, OMIM:600118, OMIM:602536, RefSeq DNA:NG_016972, RefSeq DNA:NT_022135, RefSeq Protein:NP_001165906, RefSeq Protein:NP_036365, RefSeq RNA:NM_001172435, RefSeq RNA:NM_012233, UniProtKB:B9A6J2, UniProtKB:C9J837, UniProtKB:Q15042 No chr2 135809835 135928280 135052265 135176667 +PA142671105 25782 HGNC:17168 ENSG00000118873 RAB3 GTPase activating non-catalytic protein subunit 2 RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) DKFZP434D245, KIAA0839, RAB3-GAP150, SPG69 Yes No Comparative Toxicogenomics Database:25782, Ensembl:ENSG00000118873, GeneCard:RAB3GAP2, HGNC:HGNC:17168, HumanCyc Gene:HS04256, ModBase:Q9H2M9, NCBI Gene:25782, OMIM:212720, OMIM:609275, RefSeq DNA:NG_015837, RefSeq DNA:NT_167186, RefSeq Protein:NP_036546, RefSeq RNA:NM_012414, UniProtKB:A6H8V0, UniProtKB:Q9H2M9 No chr1 220321610 220445843 220148268 220272501 +PA34135 5866 HGNC:9780 ENSG00000167994 RAB3A interacting protein like 1 RAB3IL1 RAB3A interacting protein (rabin3)-like 1, guanine nucleotide exchange factor for Rab3A GRAB Yes No Ensembl:ENSG00000167994, GenAtlas:RAB3IL1, GeneCard:RAB3IL1, HGNC:HGNC:9780, HumanCyc Gene:HS15621, ModBase:Q8TBN0, NCBI Gene:5866, RefSeq DNA:NT_167190, RefSeq Protein:NP_037533, RefSeq RNA:NM_013401, UCSC Genome Browser:NM_013401, UniProtKB:Q8TBN0 No chr11 61664706 61713747 61897296 61946312 +PA34136 117177 HGNC:16508 ENSG00000127328 RAB3A interacting protein RAB3IP RABIN3 FLJ22548, RABIN8, rabin3 Yes No Comparative Toxicogenomics Database:117177, Ensembl:ENSG00000127328, GenAtlas:RAB3IP, GeneCard:RAB3IP, HGNC:HGNC:16508, HumanCyc Gene:HS13234, ModBase:Q9H673, NCBI Gene:117177, OMIM:608686, RefSeq DNA:NT_029419, RefSeq Protein:NP_001019818, RefSeq Protein:NP_071901, RefSeq Protein:NP_783322, RefSeq Protein:NP_783323, RefSeq Protein:NP_783324, RefSeq RNA:NM_001024647, RefSeq RNA:NM_022456, RefSeq RNA:NM_175623, RefSeq RNA:NM_175624, RefSeq RNA:NM_175625, UCSC Genome Browser:NM_022456, UniProtKB:Q96QF0 No chr12 70132466 70216984 69738007 69823204 +PA34137 142684 HGNC:18283 ENSG00000172476 RAB40A, member RAS oncogene family RAB40A RAR2A, Rar-2 Yes No Ensembl:ENSG00000172476, GenAtlas:RAB40A, GeneCard:RAB40A, HGNC:HGNC:18283, HumanCyc Gene:HS02358, ModBase:Q8WXH6, NCBI Gene:142684, RefSeq DNA:NG_017149, RefSeq DNA:NT_011651, RefSeq Protein:NP_543155, RefSeq RNA:NM_080879, UCSC Genome Browser:NM_080879, UniProtKB:Q8WXH6 No chrX 102753053 102774417 103493266 103519489 +PA142671103 282808 HGNC:25410 ENSG00000102128 RAB40A like RAB40AL """RAB40A, member RAS oncogene family-like"", ""Ras like GTPase""" RAR2, RLGP Yes No Ensembl:ENSG00000102128, HGNC:HGNC:25410, ModBase:P0C0E4, NCBI Gene:282808, OMIM:300405, RefSeq DNA:NT_011651, RefSeq Protein:NP_001027004, RefSeq RNA:NM_001031834, UniProtKB:P0C0E4 No chrX 102192200 102193228 102937272 102938300 +PA34138 10966 HGNC:18284 ENSG00000141542 RAB40B, member RAS oncogene family RAB40B RAR, SEC4L Yes No Ensembl:ENSG00000141542, GenAtlas:RAB40B, GeneCard:RAB40B, HGNC:HGNC:18284, HumanCyc Gene:HS06846, ModBase:Q12829, NCBI Gene:10966, RefSeq DNA:NT_010663, RefSeq Protein:NP_006813, RefSeq RNA:NM_006822, UCSC Genome Browser:NM_006822, UniProtKB:Q12829 No chr17 80614943 80656598 82657067 82698722 +PA34139 57799 HGNC:18285 ENSG00000197562 RAB40C, member RAS oncogene family RAB40C RARL, RASL8C Yes No Comparative Toxicogenomics Database:57799, Ensembl:ENSG00000197562, GenAtlas:RAB40C, GeneCard:RAB40C, HGNC:HGNC:18285, HumanCyc Gene:HS05115, ModBase:Q96S21, NCBI Gene:57799, RefSeq DNA:NT_010393, RefSeq Protein:NP_001166134, RefSeq Protein:NP_001166135, RefSeq Protein:NP_001166136, RefSeq Protein:NP_001166137, RefSeq Protein:NP_066991, RefSeq RNA:NM_001172663, RefSeq RNA:NM_001172664, RefSeq RNA:NM_001172665, RefSeq RNA:NM_001172666, RefSeq RNA:NM_021168, UCSC Genome Browser:NM_021168, UniProtKB:Q5PXE8, UniProtKB:Q6PIU5, UniProtKB:Q96S21 No chr16 639357 679273 589357 629273 +PA34140 347517 HGNC:18293 ENSG00000147127 RAB41, member RAS oncogene family RAB41 Yes No Ensembl:ENSG00000147127, GenAtlas:RAB41, GeneCard:RAB41, HGNC:HGNC:18293, ModBase:Q5JT25, NCBI Gene:347517, RefSeq DNA:NG_021267, RefSeq DNA:NT_011669, RefSeq Protein:NP_001027898, RefSeq RNA:NM_001032726, UniProtKB:Q5JT25 No chrX 69502022 69504852 70280978 70285088 +PA134976516 115273 HGNC:28702 ENSG00000188060 RAB42, member RAS oncogene family RAB42 MGC45806 Yes No Ensembl:ENSG00000188060, GeneCard:RAB42, HGNC:HGNC:28702, ModBase:Q8N4Z0, NCBI Gene:115273, RefSeq DNA:NT_004610, RefSeq Protein:NP_001180461, RefSeq Protein:NP_689517, RefSeq RNA:NM_001193532, RefSeq RNA:NM_152304, UniProtKB:Q8N4Z0 No chr1 28918712 28921098 28592200 28595444 +PA142671104 646996 HGNC:19799 ENSG00000230997 RAB42, member RAS oncogene family, pseudogene 1 RAB42P1 Yes No Ensembl:ENSG00000230997, HGNC:HGNC:19799, NCBI Gene:646996, RefSeq DNA:NG_009574, RefSeq DNA:NT_026437, RefSeq RNA:NR_003543 No chr14 90358166 90359254 89891784 89892910 +PA134968262 339122 HGNC:19983 ENSG00000172780 RAB43, member RAS oncogene family RAB43 ISY1, RAB11B, RAB41 Yes No Ensembl:ENSG00000172780, GeneCard:RAB43, HGNC:HGNC:19983, ModBase:Q86YS6, NCBI Gene:339122, RefSeq DNA:NT_005612, RefSeq Protein:NP_001191812, RefSeq Protein:NP_001191813, RefSeq Protein:NP_001191814, RefSeq Protein:NP_001191815, RefSeq Protein:NP_001191816, RefSeq Protein:NP_001191817, RefSeq Protein:NP_940892, RefSeq RNA:NM_001204883, RefSeq RNA:NM_001204884, RefSeq RNA:NM_001204885, RefSeq RNA:NM_001204886, RefSeq RNA:NM_001204887, RefSeq RNA:NM_001204888, RefSeq RNA:NM_198490, UniProtKB:Q86YS6 No chr3 128806412 128840993 129087569 129122150 +PA134912533 401258 HGNC:21068 ENSG00000255587 RAB44, member RAS oncogene family RAB44 RASD3, RASL13, dJ431A14.3 Yes No Ensembl:ENSG00000255587, GeneCard:RAB44, HGNC:HGNC:21068, NCBI Gene:401258, RefSeq DNA:NT_007592, RefSeq Protein:XP_001722060, RefSeq Protein:XP_001722120, RefSeq Protein:XP_001725059, RefSeq Protein:XP_003403488, RefSeq Protein:XP_003403489, RefSeq RNA:XM_001722008, RefSeq RNA:XM_001722068, RefSeq RNA:XM_001725007, RefSeq RNA:XM_003403440, RefSeq RNA:XM_003403441 No chr6 36665628 36700960 36697808 36733183 +PA34141 5867 HGNC:9781 ENSG00000168118 RAB4A, member RAS oncogene family RAB4A HRES-1/RAB4, RAB4 Yes No Comparative Toxicogenomics Database:5867, Ensembl:ENSG00000168118, GenAtlas:RAB4A, GeneCard:RAB4A, HGNC:HGNC:9781, ModBase:P20338, NCBI Gene:5867, OMIM:179511, RefSeq DNA:NT_167186, RefSeq Protein:NP_004569, RefSeq RNA:NM_004578, UCSC Genome Browser:NM_004578, UniProtKB:P20338 No chr1 229406809 229441641 229271062 229305894 +PA34142 53916 HGNC:9782 ENSG00000167578 RAB4B, member RAS oncogene family RAB4B ras-related GTP-binding protein 4b, small GTP binding protein RAB4B FLJ78649, MGC52123 Yes No Comparative Toxicogenomics Database:53916, Ensembl:ENSG00000167578, GenAtlas:RAB4B, GeneCard:RAB4B, HGNC:HGNC:9782, HumanCyc Gene:HS09583, ModBase:P61018, NCBI Gene:53916, OMIM:612945, RefSeq DNA:NT_011109, RefSeq Protein:NP_057238, RefSeq RNA:NM_016154, UCSC Genome Browser:NM_016154, UniProtKB:P61018, UniProtKB:Q6PIK3 No chr19 41283670 41302849 40778219 40796944 +PA34143 5868 HGNC:9783 ENSG00000144566 RAB5A, member RAS oncogene family RAB5A RAS-associated protein RAB5A RAB5 Yes No Comparative Toxicogenomics Database:5868, Ensembl:ENSG00000144566, GenAtlas:RAB5A, GeneCard:RAB5A, HGNC:HGNC:9783, HumanCyc Gene:HS07179, ModBase:P20339, NCBI Gene:5868, OMIM:179512, RefSeq DNA:NT_022517, RefSeq Protein:NP_004153, RefSeq RNA:NM_004162, UCSC Genome Browser:NM_004162, UniProtKB:P20339, UniProtKB:Q6FI44 No chr3 19988572 20026667 19947080 19985175 +PA34144 5869 HGNC:9784 ENSG00000111540 RAB5B, member RAS oncogene family RAB5B Yes No Ensembl:ENSG00000111540, GenAtlas:RAB5B, GeneCard:RAB5B, HGNC:HGNC:9784, HumanCyc Gene:HS03425, ModBase:P61020, NCBI Gene:5869, OMIM:179514, RefSeq DNA:NT_029419, RefSeq Protein:NP_002859, RefSeq RNA:NM_002868, UCSC Genome Browser:NM_002868, UniProtKB:P61020 No chr12 56367697 56390467 55973913 55996683 +PA34145 5878 HGNC:9785 ENSG00000108774 RAB5C, member RAS oncogene family RAB5C """RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family""" RAB5CL, RABL Yes No Ensembl:ENSG00000108774, GenAtlas:RAB5C, GeneCard:RAB5C, HGNC:HGNC:9785, HumanCyc Gene:HS03152, ModBase:P51148, NCBI Gene:5878, OMIM:604037, RefSeq DNA:NT_010783, RefSeq Protein:NP_004574, RefSeq Protein:NP_958842, RefSeq RNA:NM_004583, RefSeq RNA:NM_201434, UCSC Genome Browser:NM_004583, UniProtKB:P51148 No chr17 40276994 40307062 42124976 42155044 +PA25740 55969 HGNC:15870 ENSG00000101084 RAB5 interacting factor RAB5IF chromosome 20 open reading frame 24, obligate partner of TMCO1 insertase, respirasome complex assembly factor 1 C20orf24, OPTI, PNAS-11, RCAF1, RIP5 Yes No Comparative Toxicogenomics Database:55969, Ensembl:ENSG00000101084, GenAtlas:C20orf24, GeneCard:C20orf24, HGNC:HGNC:15870, HumanCyc Gene:HS12436, NCBI Gene:55969, RefSeq DNA:NT_011362, RefSeq Protein:NP_001186463, RefSeq Protein:NP_061328, RefSeq Protein:NP_955777, RefSeq RNA:NM_001199534, RefSeq RNA:NM_018840, RefSeq RNA:NM_199483, RefSeq RNA:NR_026562, UCSC Genome Browser:NM_018840, UniProtKB:Q5QPG6, UniProtKB:Q9BUV8 No chr20 35234137 35240960 36605734 36612557 +PA34146 5870 HGNC:9786 ENSG00000175582 RAB6A, member RAS oncogene family RAB6A RAB6 Yes No Comparative Toxicogenomics Database:5870, Ensembl:ENSG00000175582, GenAtlas:RAB6A, GeneCard:RAB6A, HGNC:HGNC:9786, HumanCyc Gene:HS10955, ModBase:P20340, NCBI Gene:5870, OMIM:179513, RefSeq DNA:NT_167190, RefSeq Protein:NP_002860, RefSeq Protein:NP_942599, RefSeq RNA:NM_002869, RefSeq RNA:NM_198896, UCSC Genome Browser:NM_002869, UniProtKB:P20340 No chr11 73386683 73472201 73675638 73761156 +PA34147 51560 HGNC:14902 ENSG00000154917 RAB6B, member RAS oncogene family RAB6B Yes No Ensembl:ENSG00000154917, GenAtlas:RAB6B, GeneCard:RAB6B, HGNC:HGNC:14902, HumanCyc Gene:HS08016, ModBase:Q9NRW1, NCBI Gene:51560, RefSeq DNA:NT_005612, RefSeq Protein:NP_057661, RefSeq RNA:NM_016577, UCSC Genome Browser:NM_016577, UniProtKB:Q9NRW1 No chr3 133543079 133614691 133824235 133895847 +PA34148 84084 HGNC:16525 ENSG00000222014 RAB6C, member RAS oncogene family RAB6C WTH3 Yes No Ensembl:ENSG00000222014, GenAtlas:RAB6C, GeneCard:RAB6C, HGNC:HGNC:16525, ModBase:Q9H0N0, NCBI Gene:84084, OMIM:612909, RefSeq DNA:NT_022135, RefSeq Protein:NP_115520, RefSeq RNA:NM_032144, UCSC Genome Browser:NM_032144, UniProtKB:Q9H0N0 No chr2 130737235 130740311 129979662 129982738 +PA166181614 150786 HGNC:30272 ENSG00000233087 RAB6D, member RAS oncogene family RAB6D RAB6CL, WTH3DI Yes No Ensembl:ENSG00000233087, HGNC:HGNC:30272, NCBI Gene:150786 No 0 0 0 0 +PA162400619 7879 HGNC:9788 ENSG00000075785 RAB7A, member RAS oncogene family RAB7A CMT2B, RAB7 Yes Yes Ensembl:ENSG00000075785, GeneCard:RAB7A, HGNC:HGNC:9788, HumanCyc Gene:HS01188, ModBase:P51149, NCBI Gene:7879, OMIM:600882, OMIM:602298, RefSeq DNA:NG_008070, RefSeq DNA:NT_005612, RefSeq Protein:NP_004628, RefSeq RNA:NM_004637, UniProtKB:P51149 No chr3 128444975 128533641 128726136 128814798 +PA134940117 338382 HGNC:30513 ENSG00000276600 RAB7B, member RAS oncogene family RAB7B MGC16212, MGC9726 Yes No Ensembl:ENSG00000276600, GeneCard:RAB7B, HGNC:HGNC:30513, ModBase:Q96AH8, NCBI Gene:338382, RefSeq Protein:NP_001157994, RefSeq Protein:NP_796377, RefSeq RNA:NM_001164522, RefSeq RNA:NM_177403, UniProtKB:Q96AH8 No chr1 +PA30743 4218 HGNC:7007 ENSG00000167461 RAB8A, member RAS oncogene family RAB8A MEL, RAB8 Yes No Comparative Toxicogenomics Database:4218, Ensembl:ENSG00000167461, GenAtlas:RAB8A, GeneCard:RAB8A, HGNC:HGNC:7007, HumanCyc Gene:HS09561, ModBase:P61006, NCBI Gene:4218, OMIM:165040, RefSeq DNA:NT_011295, RefSeq Protein:NP_005361, RefSeq RNA:NM_005370, UCSC Genome Browser:NM_005370, UniProtKB:P61006 No chr19 16222490 16244445 16111680 16133635 +PA134944620 51762 HGNC:30273 ENSG00000166128 RAB8B, member RAS oncogene family RAB8B Yes No Comparative Toxicogenomics Database:51762, Ensembl:ENSG00000166128, GeneCard:RAB8B, HGNC:HGNC:30273, HumanCyc Gene:HS09333, ModBase:Q92930, NCBI Gene:51762, RefSeq DNA:NT_010194, RefSeq Protein:NP_057614, RefSeq RNA:NM_016530, UniProtKB:Q92930 No chr15 63481728 63559975 63189529 63267776 +PA34152 9367 HGNC:9792 ENSG00000123595 RAB9A, member RAS oncogene family RAB9A RAB9 Yes No Ensembl:ENSG00000123595, GenAtlas:RAB9A, GeneCard:RAB9A, HGNC:HGNC:9792, HumanCyc Gene:HS04677, ModBase:P51151, NCBI Gene:9367, OMIM:300284, RefSeq DNA:NT_167197, RefSeq Protein:NP_001182257, RefSeq Protein:NP_004242, RefSeq RNA:NM_001195328, RefSeq RNA:NM_004251, UCSC Genome Browser:NM_004251, UniProtKB:P51151 No chrX 13707240 13727944 13689121 13709825 +PA34153 51209 HGNC:14090 ENSG00000123570 RAB9B, member RAS oncogene family RAB9B RAB9L Yes No Comparative Toxicogenomics Database:51209, Ensembl:ENSG00000123570, GenAtlas:RAB9B, GeneCard:RAB9B, HGNC:HGNC:14090, HumanCyc Gene:HS04673, ModBase:Q9NP90, NCBI Gene:51209, OMIM:300285, RefSeq DNA:NG_016452, RefSeq DNA:NT_011651, RefSeq Protein:NP_057454, RefSeq RNA:NM_016370, UCSC Genome Browser:NM_016370, UniProtKB:Q9NP90 No chrX 103077255 103087212 103822325 103832282 +PA34154 9366 HGNC:9793 ENSG00000232159 RAB9B, member RAS oncogene family pseudogene 1 RAB9BP1 Yes No Ensembl:ENSG00000232159, GenAtlas:RAB9P1, GeneCard:RAB9BP1, HGNC:HGNC:9793, NCBI Gene:9366, RefSeq DNA:NT_034772, RefSeq RNA:NR_000039, UCSC Genome Browser:NM_004250 No chr5 104435175 104435799 105099474 105100098 +PA34155 10567 HGNC:9794 ENSG00000105404 Rab acceptor 1 RABAC1 PRA1 domain family 1, Rab acceptor 1 (prenylated), prenylated Rab acceptor 1 PRA1, PRAF1, YIP3 Yes No Comparative Toxicogenomics Database:10567, Ensembl:ENSG00000105404, GenAtlas:RABAC1, GeneCard:RABAC1, HGNC:HGNC:9794, HumanCyc Gene:HS12588, NCBI Gene:10567, OMIM:604925, RefSeq DNA:NT_011109, RefSeq Protein:NP_006414, RefSeq RNA:NM_006423, UCSC Genome Browser:NM_006423, UniProtKB:Q9UI14 No chr19 42460833 42463530 41956681 41959376 +PA134884097 9135 HGNC:17677 ENSG00000029725 rabaptin, RAB GTPase binding effector protein 1 RABEP1 RAB5EP, RABPT5, neurocrescin, rabaptin-5 Yes Yes Comparative Toxicogenomics Database:9135, Ensembl:ENSG00000029725, GeneCard:RABEP1, HGNC:HGNC:17677, HumanCyc Gene:HS00473, ModBase:Q15276, NCBI Gene:9135, OMIM:603616, RefSeq DNA:NT_010718, RefSeq Protein:NP_001077054, RefSeq Protein:NP_004694, RefSeq RNA:NM_001083585, RefSeq RNA:NM_004703, UniProtKB:Q15276 No chr17 5185558 5289132 5282263 5386340 +PA134952719 79874 HGNC:24817 ENSG00000177548 rabaptin, RAB GTPase binding effector protein 2 RABEP2 Rabaptin-5beta FLJ23282, FRA Yes No Comparative Toxicogenomics Database:79874, Ensembl:ENSG00000177548, GeneCard:RABEP2, HGNC:HGNC:24817, HumanCyc Gene:HS11184, ModBase:Q9H5N1, NCBI Gene:79874, OMIM:611869, RefSeq DNA:NT_010393, RefSeq Protein:NP_079092, RefSeq RNA:NM_024816, UniProtKB:Q9H5N1 No chr16 28915742 28937339 28904421 28925211 +PA142671100 10244 HGNC:16896 ENSG00000136933 Rab9 effector protein with kelch motifs RABEPK RAB9P40, bA65N13.1 Yes Yes Comparative Toxicogenomics Database:10244, Ensembl:ENSG00000136933, GeneCard:RABEPK, HGNC:HGNC:16896, HumanCyc Gene:HS06248, ModBase:Q7Z6M1, NCBI Gene:10244, OMIM:605962, RefSeq DNA:NT_008470, RefSeq Protein:NP_001167623, RefSeq Protein:NP_001167624, RefSeq Protein:NP_005824, RefSeq RNA:NM_001174152, RefSeq RNA:NM_001174153, RefSeq RNA:NM_005833, UniProtKB:A8K403, UniProtKB:Q7Z6M1 No chr9 127962821 127996438 125200493 125234159 +PA134977298 23637 HGNC:17155 ENSG00000011454 RAB GTPase activating protein 1 RABGAP1 """TBC1 domain family, member 11"", ""rab6 GTPase activating protein (GAP and centrosome-associated)""" GAPCenA, TBC1D11 Yes No Ensembl:ENSG00000011454, GeneCard:RABGAP1, HGNC:HGNC:17155, HumanCyc Gene:HS00318, NCBI Gene:23637, RefSeq DNA:NT_008470, RefSeq Protein:NP_036329, RefSeq RNA:NM_012197, UniProtKB:B9A6L2, UniProtKB:Q9Y3P9 No chr9 125703288 125867147 122931638 123104869 +PA134940645 9910 HGNC:24663 ENSG00000152061 RAB GTPase activating protein 1 like RABGAP1L RAB GTPase activating protein 1-like FLJ38519, HHL, KIAA0471, TBC1D18 Yes Yes Comparative Toxicogenomics Database:9910, Ensembl:ENSG00000152061, GeneCard:RABGAP1L, HGNC:HGNC:24663, HumanCyc Gene:HS14404, ModBase:Q9UQ19, NCBI Gene:9910, OMIM:609238, RefSeq DNA:NT_004487, RefSeq Protein:NP_001030307, RefSeq Protein:NP_055672, RefSeq Protein:XP_003403466, RefSeq RNA:NM_001035230, RefSeq RNA:NM_014857, RefSeq RNA:XM_003403418, UniProtKB:B5MC30, UniProtKB:Q5R372 No chr1 174128552 174964445 174159414 174995308 +PA134946532 27342 HGNC:17676 ENSG00000154710 RAB guanine nucleotide exchange factor 1 RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1 RABEX5, rabex-5 Yes No Comparative Toxicogenomics Database:27342, Ensembl:ENSG00000154710, GeneCard:RABGEF1, HGNC:HGNC:17676, HumanCyc Gene:HS08000, ModBase:Q9UJ41, NCBI Gene:27342, OMIM:609700, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_055319, RefSeq RNA:NM_014504, UniProtKB:Q9UJ41 No chr7 66147151 66276451 66682091 66811464 +PA34156 5875 HGNC:9795 ENSG00000100949 Rab geranylgeranyltransferase subunit alpha RABGGTA """Rab geranylgeranyltransferase, alpha subunit"", ""protein prenyltransferase alpha subunit repeat containing 3""" PTAR3 Yes No Ensembl:ENSG00000100949, GenAtlas:RABGGTA, GeneCard:RABGGTA, HGNC:HGNC:9795, HumanCyc Gene:HS02171, ModBase:Q92696, NCBI Gene:5875, OMIM:601905, RefSeq DNA:NT_026437, RefSeq Protein:NP_004572, RefSeq Protein:NP_878256, RefSeq RNA:NM_004581, RefSeq RNA:NM_182836, UCSC Genome Browser:NM_004581, UniProtKB:Q92696 No chr14 24734744 24740833 24265538 24271627 +PA34157 5876 HGNC:9796 ENSG00000137955 Rab geranylgeranyltransferase subunit beta RABGGTB Rab geranylgeranyltransferase, beta subunit Yes No Comparative Toxicogenomics Database:5876, Ensembl:ENSG00000137955, GenAtlas:RABGGTB, GeneCard:RABGGTB, HGNC:HGNC:9796, HumanCyc Gene:HS06425, ModBase:P53611, NCBI Gene:5876, OMIM:179080, RefSeq DNA:NT_032977, RefSeq Protein:NP_004573, RefSeq RNA:NM_004582, UCSC Genome Browser:NM_004582, UniProtKB:P53611, UniProtKB:Q6IB63 No chr1 76251879 76260775 75786194 75795090 +PA34158 5877 HGNC:9797 ENSG00000183155 RAB interacting factor RABIF RASGRF3, mss4 Yes No Comparative Toxicogenomics Database:5877, Ensembl:ENSG00000183155, GenAtlas:RABIF, GeneCard:RABIF, HGNC:HGNC:9797, ModBase:P47224, NCBI Gene:5877, OMIM:603417, RefSeq DNA:NT_004487, RefSeq Protein:NP_002862, RefSeq RNA:NM_002871, UCSC Genome Browser:NM_002871, UniProtKB:P47224 No chr1 202847410 202858385 202878282 202889257 +PA34159 11159 HGNC:9799 ENSG00000144134 RAB, member of RAS oncogene family like 2A RABL2A RAB, member of RAS oncogene family-like 2A Yes No Ensembl:ENSG00000144134, GenAtlas:RABL2A, GeneCard:RABL2A, HGNC:HGNC:9799, ModBase:Q9UBK7, NCBI Gene:11159, OMIM:605412, RefSeq DNA:NT_022135, RefSeq Protein:NP_009013, RefSeq Protein:NP_038198, RefSeq RNA:NM_007082, RefSeq RNA:NM_013412, UCSC Genome Browser:NM_007082, UniProtKB:Q9UBK7 No chr2 114384814 114400975 113627218 113643398 +PA34160 11158 HGNC:9800 ENSG00000079974 RAB, member of RAS oncogene family like 2B RABL2B RAB, member of RAS oncogene family-like 2B Yes No Ensembl:ENSG00000079974, GenAtlas:RABL2B, GeneCard:RABL2B, HGNC:HGNC:9800, HumanCyc Gene:HS01343, HumanCyc Gene:HS07148, ModBase:Q9UNT1, NCBI Gene:11158, OMIM:605413, RefSeq DNA:NT_011526, RefSeq Protein:NP_001003789, RefSeq Protein:NP_001124391, RefSeq Protein:NP_001124392, RefSeq Protein:NP_001124393, RefSeq Protein:NP_001124394, RefSeq Protein:NP_001124395, RefSeq Protein:NP_009012, RefSeq RNA:NM_001003789, RefSeq RNA:NM_001130919, RefSeq RNA:NM_001130920, RefSeq RNA:NM_001130921, RefSeq RNA:NM_001130922, RefSeq RNA:NM_001130923, RefSeq RNA:NM_007081, UCSC Genome Browser:NM_007081, UniProtKB:Q9UNT1 No chr22 51205920 51222103 50767492 50783705 +PA34161 285282 HGNC:18072 ENSG00000144840 RAB, member of RAS oncogene family like 3 RABL3 RAB, member of RAS oncogene family-like 3 MGC23920 Yes No Ensembl:ENSG00000144840, GenAtlas:RABL3, GeneCard:RABL3, HGNC:HGNC:18072, ModBase:Q5HYI8, NCBI Gene:285282, RefSeq DNA:NT_005612, RefSeq Protein:NP_776186, RefSeq RNA:NM_173825, UniProtKB:Q5HYI8 No chr3 120405528 120461384 120686681 120742537 +PA134868176 55684 HGNC:24703 ENSG00000196642 RAB, member RAS oncogene family like 6 RABL6 """RAB, member RAS oncogene family-like 6"", ""Rab-like protein 1"", ""partner of ARF""" C9orf86, FLJ10101, FLJ13045, Parf, RBEL1, bA216L13.9, pp8875 Yes No Comparative Toxicogenomics Database:55684, Ensembl:ENSG00000196642, GeneCard:C9orf86, HGNC:HGNC:24703, ModBase:Q9H935, NCBI Gene:55684, OMIM:610615, RefSeq DNA:NT_024000, RefSeq Protein:NP_001167459, RefSeq Protein:NP_001167460, RefSeq Protein:NP_060465, RefSeq Protein:NP_078994, RefSeq RNA:NM_001173988, RefSeq RNA:NM_001173989, RefSeq RNA:NM_017995, RefSeq RNA:NM_024718, UniProtKB:A8QVZ7, UniProtKB:Q3YEC7 No chr9 139702374 139735639 136807922 136841187 +PA34162 5879 HGNC:9801 ENSG00000136238 Rac family small GTPase 1 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) Rac-1, TC-25, p21-Rac1 Yes No Comparative Toxicogenomics Database:5879, Ensembl:ENSG00000136238, GenAtlas:RAC1, GeneCard:RAC1, HGNC:HGNC:9801, HumanCyc Gene:HS06134, ModBase:P63000, NCBI Gene:5879, OMIM:602048, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_008839, RefSeq Protein:NP_061485, RefSeq RNA:NM_006908, RefSeq RNA:NM_018890, UCSC Genome Browser:NM_006908, UniProtKB:A4D2P0, UniProtKB:A4D2P1, UniProtKB:P63000 No chr7 6414126 6443598 6374495 6403967 +PA134972330 387612 HGNC:31001 ENSG00000266520 ras-related C3 botulinum toxin substrate 1 pseudogene 1 RAC1P1 HsT2789 Yes No Ensembl:ENSG00000266520, GeneCard:RAC1P1, HGNC:HGNC:31001, NCBI Gene:387612, RefSeq DNA:NG_005321, RefSeq DNA:NT_010966 No chr18 22265442 22266329 24685478 24686365 +PA134962154 442775 HGNC:31414 ENSG00000249936 ras-related C3 botulinum toxin substrate 1 pseudogene 2 RAC1P2 Psi2Rac1 Yes No Ensembl:ENSG00000249936, GeneCard:RAC1P2, HGNC:HGNC:31414, NCBI Gene:442775, RefSeq DNA:NG_005326, RefSeq DNA:NT_006238 No chr4 46725687 46726624 46723670 46724607 +PA134987113 492295 HGNC:31833 ENSG00000231404 ras-related C3 botulinum toxin substrate 1 pseudogene 3 RAC1P3 Psi3Rac1 Yes No Ensembl:ENSG00000231404, GeneCard:RAC1P3, HGNC:HGNC:31833, NCBI Gene:492295, RefSeq DNA:NG_004753, RefSeq DNA:NT_024524 No chr13 41861621 41862575 41287485 41288439 +PA134887356 286472 HGNC:31113 ENSG00000237584 ras-related C3 botulinum toxin substrate 1 pseudogene 4 RAC1P4 Psi4Rac1 Yes No Ensembl:ENSG00000237584, GeneCard:RAC1P4, HGNC:HGNC:31113, NCBI Gene:286472, RefSeq DNA:NG_004751, RefSeq DNA:NT_011786 No chrX 136523206 136524190 137441047 137442031 +PA134934979 402183 HGNC:30593 ENSG00000213522 ras-related C3 botulinum toxin substrate 1 pseudogene 5 RAC1P5 Psi1Rac1 Yes No Ensembl:ENSG00000213522, GeneCard:RAC1P5, HGNC:HGNC:30593, NCBI Gene:402183, RefSeq DNA:NG_005324, RefSeq DNA:NT_016354 No chr4 108123810 108125914 107202653 107204757 +PA34163 5880 HGNC:9802 ENSG00000128340 Rac family small GTPase 2 RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) EN-7 Yes Yes Comparative Toxicogenomics Database:5880, Ensembl:ENSG00000128340, GenAtlas:RAC2, GeneCard:RAC2, HGNC:HGNC:9802, HumanCyc Gene:HS05183, ModBase:P15153, NCBI Gene:5880, OMIM:602049, OMIM:608203, RefSeq DNA:NG_007288, RefSeq DNA:NT_011520, RefSeq Protein:NP_002863, RefSeq RNA:NM_002872, UCSC Genome Browser:NM_002872, UniProtKB:P15153 No chr22 37621301 37640339 37225261 37244299 +PA34164 5881 HGNC:9803 ENSG00000169750 Rac family small GTPase 3 RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) Yes No Comparative Toxicogenomics Database:5881, Ensembl:ENSG00000169750, GenAtlas:RAC3, GeneCard:RAC3, HGNC:HGNC:9803, HumanCyc Gene:HS10002, ModBase:P60763, NCBI Gene:5881, OMIM:602050, RefSeq DNA:NT_010663, RefSeq Protein:NP_005043, RefSeq RNA:NM_005052, UCSC Genome Browser:NM_005052, UniProtKB:P60763 No chr17 79989532 79992080 82031656 82034204 +PA34165 29127 HGNC:9804 ENSG00000161800 Rac GTPase activating protein 1 RACGAP1 CYK4, MgcRacGAP Yes No Comparative Toxicogenomics Database:29127, Ensembl:ENSG00000161800, GenAtlas:RACGAP1, GeneCard:RACGAP1, HGNC:HGNC:9804, HumanCyc Gene:HS08612, ModBase:Q9H0H5, NCBI Gene:29127, OMIM:604980, RefSeq DNA:NT_029419, RefSeq Protein:NP_001119575, RefSeq Protein:NP_001119576, RefSeq Protein:NP_037409, RefSeq RNA:NM_001126103, RefSeq RNA:NM_001126104, RefSeq RNA:NM_013277, UCSC Genome Browser:NM_013277, UniProtKB:B2RE34, UniProtKB:Q9H0H5 No chr12 50382945 50425586 49989162 50033136 +PA28779 10399 HGNC:4399 ENSG00000204628 receptor for activated C kinase 1 RACK1 """Receptor for Activated C Kinase 1"", ""guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1""" GNB2L1, Gnb2-rs1, H12.3, RACK1 Yes No Comparative Toxicogenomics Database:10399, Ensembl:ENSG00000204628, GenAtlas:GNB2L1, GeneCard:GNB2L1, HGNC:HGNC:4399, ModBase:P63244, NCBI Gene:10399, OMIM:176981, RefSeq DNA:NT_023133, RefSeq Protein:NP_006089, RefSeq RNA:NM_006098, UCSC Genome Browser:NM_006098, UniProtKB:P63244 No chr5 180663928 180671209 181236928 181243906 +PA34166 5810 HGNC:9806 ENSG00000113456 RAD1 checkpoint DNA exonuclease RAD1 DNA repair exonuclease REC1, RAD1 checkpoint clamp component, RAD1 homolog (S. pombe), Rad1-like DNA damage checkpoint, cell cycle checkpoint protein Hrad1, checkpoint control protein HRAD1, exonuclease homolog RAD1 HRAD1, REC1 Yes No Comparative Toxicogenomics Database:5810, Ensembl:ENSG00000113456, GenAtlas:RAD1, GeneCard:RAD1, HGNC:HGNC:9806, HumanCyc Gene:HS03684, ModBase:O60671, NCBI Gene:5810, OMIM:603153, RefSeq DNA:NT_006576, RefSeq Protein:NP_002844, RefSeq RNA:NM_002853, RefSeq RNA:NR_026591, UCSC Genome Browser:NM_002853, UniProtKB:O60671 No chr5 34905365 34915780 34905260 34915675 +PA34167 5884 HGNC:9807 ENSG00000152942 RAD17 checkpoint clamp loader component RAD17 RAD17 homolog (S. pombe) CCYC, RAD17Sp, Rad24 Yes No Comparative Toxicogenomics Database:5884, Ensembl:ENSG00000152942, GenAtlas:RAD17, GeneCard:RAD17, HGNC:HGNC:9807, HumanCyc Gene:HS07863, ModBase:O75943, NCBI Gene:5884, OMIM:603139, RefSeq DNA:NT_006713, RefSeq Protein:NP_002864, RefSeq Protein:NP_579916, RefSeq Protein:NP_579917, RefSeq Protein:NP_579918, RefSeq Protein:NP_579919, RefSeq Protein:NP_579920, RefSeq Protein:NP_579921, RefSeq Protein:NP_579922, RefSeq RNA:NM_002873, RefSeq RNA:NM_133338, RefSeq RNA:NM_133339, RefSeq RNA:NM_133340, RefSeq RNA:NM_133341, RefSeq RNA:NM_133342, RefSeq RNA:NM_133343, RefSeq RNA:NM_133344, UCSC Genome Browser:NM_002873, UniProtKB:O75943 No chr5 68665124 68710628 69369297 69414801 +PA34168 9207 HGNC:9808 ENSG00000232400 RAD17 homolog (S. pombe) pseudogene 1 RAD17P1 HRAD17P1 Yes No Ensembl:ENSG00000232400, GenAtlas:RAD17P1, GeneCard:RAD17P1, HGNC:HGNC:9808, NCBI Gene:9207, RefSeq DNA:NG_002929, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 16903489 16905994 16863865 16866370 +PA34169 9206 HGNC:9809 ENSG00000223724 RAD17 homolog (S. pombe) pseudogene 2 RAD17P2 HRAD17P2 Yes No Ensembl:ENSG00000223724, GenAtlas:RAD17P2, GeneCard:RAD17P2, HGNC:HGNC:9809, NCBI Gene:9206, RefSeq DNA:NG_002928, RefSeq DNA:NT_024524 No chr13 49617820 49621005 49043693 49046878 +PA134912253 56852 HGNC:18278 ENSG00000070950 RAD18 E3 ubiquitin protein ligase RAD18 """RAD18 E3 ubiquitin protein ligase"", ""RAD18 homolog (S. cerevisiae)"", ""RAD18, E3 ubiquitin protein ligase""" RNF73 Yes Yes Comparative Toxicogenomics Database:56852, Ensembl:ENSG00000070950, GeneCard:RAD18, HGNC:HGNC:18278, HumanCyc Gene:HS01019, ModBase:Q9NS91, NCBI Gene:56852, OMIM:605256, RefSeq DNA:NT_022517, RefSeq Protein:NP_064550, RefSeq RNA:NM_020165, UniProtKB:Q9NS91 No chr3 8918880 9005159 8877196 8969249 +PA34170 5885 HGNC:9811 ENSG00000164754 RAD21 cohesin complex component RAD21 RAD21 homolog (S. pombe), kleisin, sister chromatid cohesion 1 KIAA0078, SCC1, hHR21 Yes No Comparative Toxicogenomics Database:5885, Ensembl:ENSG00000164754, GenAtlas:RAD21, GeneCard:RAD21, HGNC:HGNC:9811, HumanCyc Gene:HS09131, ModBase:O60216, NCBI Gene:5885, OMIM:606462, RefSeq DNA:NT_008046, RefSeq Protein:NP_006256, RefSeq RNA:NM_006265, UCSC Genome Browser:NM_006265, UniProtKB:O60216 No chr8 117858173 117887105 116845934 116874866 +PA165585767 644660 HGNC:32158 ENSG00000253327 RAD21 antisense RNA 1 RAD21-AS1 Yes No Ensembl:ENSG00000253327, GeneCard:RAD21-AS1, HGNC:HGNC:32158, NCBI Gene:644660, RefSeq DNA:NT_008046, RefSeq RNA:NR_033886, RefSeq RNA:XR_040078, RefSeq RNA:XR_040079, RefSeq RNA:XR_040080 No chr8 117886663 117889107 116874424 116876868 +PA34171 642636 HGNC:16271 ENSG00000244588 RAD21 cohesin complex component like 1 RAD21L1 RAD21-like 1 (S. pombe) RAD21L, dJ545L17.2 Yes No Ensembl:ENSG00000244588, GenAtlas:RAD21L1, GeneCard:RAD21L1, HGNC:HGNC:16271, NCBI Gene:642636, RefSeq DNA:NT_011387, RefSeq Protein:NP_001130038, RefSeq RNA:NM_001136566, UniProtKB:Q9H4I0 No chr20 1206707 1235988 1226043 1255876 +PA34172 5886 HGNC:9812 ENSG00000179262 RAD23 homolog A, nucleotide excision repair protein RAD23A """RAD23 homolog A (S. cerevisiae)"", ""RAD23, yeast homolog, A""" HHR23A, MGC111083 Yes No Comparative Toxicogenomics Database:5886, Ensembl:ENSG00000179262, GenAtlas:RAD23A, GeneCard:RAD23A, HGNC:HGNC:9812, HumanCyc Gene:HS11365, ModBase:P54725, NCBI Gene:5886, OMIM:600061, RefSeq DNA:NT_011295, RefSeq Protein:NP_005044, RefSeq RNA:NM_005053, UCSC Genome Browser:NM_005053, UniProtKB:P54725 No chr19 13056628 13064457 12945814 12953643 +PA34173 5887 HGNC:9813 ENSG00000119318 RAD23 homolog B, nucleotide excision repair protein RAD23B RAD23 homolog B (S. cerevisiae), XP-C repair complementing complex 58 kDa, XP-C repair complementing protein HHR23B, HR23B, P58 Yes No Comparative Toxicogenomics Database:5887, Ensembl:ENSG00000119318, GenAtlas:RAD23B, GeneCard:RAD23B, HGNC:HGNC:9813, HumanCyc Gene:HS04283, ModBase:P54727, NCBI Gene:5887, OMIM:600062, RefSeq DNA:NT_008470, RefSeq Protein:NP_002865, RefSeq RNA:NM_002874, UCSC Genome Browser:NM_002874, UniProtKB:P54727 No chr9 110045517 110094475 107283236 107332194 +PA34175 10111 HGNC:9816 ENSG00000113522 RAD50 double strand break repair protein RAD50 RAD50 homolog (S. cerevisiae) RAD50-2, hRad50 Yes Yes Comparative Toxicogenomics Database:10111, Ensembl:ENSG00000113522, GenAtlas:RAD50, GeneCard:RAD50, HGNC:HGNC:9816, HumanCyc Gene:HS03689, ModBase:Q92878, NCBI Gene:10111, OMIM:604040, OMIM:613078, RefSeq DNA:NG_021151, RefSeq DNA:NT_034772, RefSeq Protein:NP_005723, RefSeq Protein:NP_597816, RefSeq RNA:NM_005732, RefSeq RNA:NM_133482, UCSC Genome Browser:NM_005732, UniProtKB:A5D6Y3, UniProtKB:Q92878 No chr5 131892616 131980313 132556924 132644621 +PA34176 5888 HGNC:9817 ENSG00000051180 RAD51 recombinase RAD51 """BRCA1/BRCA2-containing complex, subunit 5"", ""RAD51 homolog (S. cerevisiae)""" BRCC5, FANCR, HsRad51, HsT16930, RAD51A, RECA Yes Yes Comparative Toxicogenomics Database:5888, Ensembl:ENSG00000051180, GenAtlas:RAD51, GeneCard:RAD51, HGNC:HGNC:9817, HumanCyc Gene:HS00642, ModBase:Q06609, NCBI Gene:5888, OMIM:114480, OMIM:179617, RefSeq DNA:NG_012120, RefSeq DNA:NT_010194, RefSeq Protein:NP_001157741, RefSeq Protein:NP_001157742, RefSeq Protein:NP_002866, RefSeq Protein:NP_597994, RefSeq RNA:NM_001164269, RefSeq RNA:NM_001164270, RefSeq RNA:NM_002875, RefSeq RNA:NM_133487, UCSC Genome Browser:NM_002875, UniProtKB:B0FXP0, UniProtKB:Q06609, UniProtKB:Q6ZNA8 No chr15 40987327 41024356 40694774 40732340 +PA134871784 10635 HGNC:16956 ENSG00000111247 RAD51 associated protein 1 RAD51AP1 PIR51 Yes No Comparative Toxicogenomics Database:10635, Ensembl:ENSG00000111247, GeneCard:RAD51AP1, HGNC:HGNC:16956, HumanCyc Gene:HS03387, NCBI Gene:10635, OMIM:603070, RefSeq DNA:NT_009759, RefSeq Protein:NP_001124334, RefSeq Protein:NP_006470, RefSeq RNA:NM_001130862, RefSeq RNA:NM_006479, UniProtKB:Q96B01 No chr12 4647940 4669213 4538784 4560047 +PA164725260 729475 HGNC:34417 ENSG00000214842 RAD51 associated protein 2 RAD51AP2 FLJ17540 Yes No Ensembl:ENSG00000214842, GeneCard:RAD51AP2, HGNC:HGNC:34417, NCBI Gene:729475, RefSeq DNA:NT_015926, RefSeq Protein:NP_001092688, RefSeq RNA:NM_001099218, UniProtKB:Q09MP3 No chr2 17691851 17701847 17510584 17530414 +PA34178 5890 HGNC:9822 ENSG00000182185 RAD51 paralog B RAD51B RAD51 homolog B (S. cerevisiae) R51H2, RAD51L1, REC2, hREC2 Yes No Comparative Toxicogenomics Database:5890, Ensembl:ENSG00000182185, GenAtlas:RAD51L1, GeneCard:RAD51L1, HGNC:HGNC:9822, ModBase:Q86U93, NCBI Gene:5890, OMIM:602948, RefSeq DNA:NG_023267, RefSeq DNA:NT_026437, RefSeq Protein:NP_002868, RefSeq Protein:NP_598193, RefSeq Protein:NP_598194, RefSeq RNA:NM_002877, RefSeq RNA:NM_133509, RefSeq RNA:NM_133510, UCSC Genome Browser:NM_002877, UniProtKB:O15315 No chr14 68286496 69149889 67819779 68683118 +PA34177 5889 HGNC:9820 ENSG00000108384 RAD51 paralog C RAD51C RAD51 homolog C (S. cerevisiae) FANCO, RAD51L2 Yes No Comparative Toxicogenomics Database:5889, Ensembl:ENSG00000108384, GenAtlas:RAD51C, GeneCard:RAD51C, HGNC:HGNC:9820, HumanCyc Gene:HS03095, ModBase:O43502, NCBI Gene:5889, OMIM:602774, OMIM:613390, OMIM:613399, RefSeq DNA:NG_023199, RefSeq DNA:NT_010783, RefSeq Protein:NP_002867, RefSeq Protein:NP_478123, RefSeq RNA:NM_002876, RefSeq RNA:NM_058216, UCSC Genome Browser:NM_002876, UniProtKB:O43502, UniProtKB:O43503 No chr17 56769934 56811703 58692538 58734342 +PA34179 5892 HGNC:9823 ENSG00000185379 RAD51 paralog D RAD51D DNA repair protein RAD51 homolog 4, RAD51 homolog D (S. cerevisiae), recombination repair protein HsTRAD, R51H3, RAD51L3, Trad Yes No Comparative Toxicogenomics Database:5892, Ensembl:ENSG00000185379, GenAtlas:RAD51L3, GeneCard:RAD51L3, HGNC:HGNC:9823, ModBase:O94908, NCBI Gene:5892, OMIM:602954, RefSeq DNA:NT_010799, RefSeq Protein:NP_001136043, RefSeq Protein:NP_002869, RefSeq Protein:NP_598332, RefSeq RNA:NM_001142571, RefSeq RNA:NM_002878, RefSeq RNA:NM_133629, RefSeq RNA:NR_037711, RefSeq RNA:NR_037712, UCSC Genome Browser:NM_002878, UniProtKB:B4DJU7, UniProtKB:O75771 No chr17 33426811 33446888 35099792 35119869 +PA34180 5893 HGNC:9824 ENSG00000002016 RAD52 homolog, DNA repair protein RAD52 RAD52 homolog (S. cerevisiae) Yes Yes Comparative Toxicogenomics Database:5893, Ensembl:ENSG00000002016, GenAtlas:RAD52, GeneCard:RAD52, HGNC:HGNC:9824, HumanCyc Gene:HS00078, NCBI Gene:5893, OMIM:600392, RefSeq DNA:NG_017078, RefSeq DNA:NT_009759, RefSeq Protein:NP_602296, RefSeq RNA:NM_134424, UCSC Genome Browser:NM_002879, UniProtKB:P43351, UniProtKB:Q3MI84, UniProtKB:Q5DR82 No chr12 1021255 1099774 911028 991195 +PA134927202 25788 HGNC:17228 ENSG00000197275 RAD54 homolog B RAD54B RAD54 homolog B (S. cerevisiae) RDH54 Yes No Ensembl:ENSG00000197275, GeneCard:RAD54B, HGNC:HGNC:17228, ModBase:Q9Y620, NCBI Gene:25788, OMIM:604289, RefSeq DNA:NG_012878, RefSeq DNA:NT_008046, RefSeq Protein:NP_001192191, RefSeq Protein:NP_001192192, RefSeq Protein:NP_036547, RefSeq RNA:NM_001205262, RefSeq RNA:NM_001205263, RefSeq RNA:NM_012415, UniProtKB:Q9Y620 No chr8 95384188 95487343 94371960 94475115 +PA34181 8438 HGNC:9826 ENSG00000085999 RAD54 like RAD54L RAD54-like (S. cerevisiae) RAD54A, hHR54, hRAD54 Yes No Comparative Toxicogenomics Database:8438, Ensembl:ENSG00000085999, GenAtlas:RAD54L, GeneCard:RAD54L, HGNC:HGNC:9826, HumanCyc Gene:HS01516, ModBase:Q92698, NCBI Gene:8438, OMIM:114480, OMIM:603615, OMIM:605027, RefSeq DNA:NG_012144, RefSeq DNA:NT_032977, RefSeq Protein:NP_001136020, RefSeq Protein:NP_003570, RefSeq RNA:NM_001142548, RefSeq RNA:NM_003579, UCSC Genome Browser:NM_003579, UniProtKB:A8K996, UniProtKB:Q92698 No chr1 46713367 46744145 46247695 46278477 +PA143485591 23132 HGNC:29123 ENSG00000164080 RAD54 like 2 RAD54L2 AR interacting protein 4, RAD54-like 2 (S. cerevisiae) ARIP4, KIAA0809, SRISNF2L Yes No Ensembl:ENSG00000164080, GeneCard:RAD54L2, HGNC:HGNC:29123, HumanCyc Gene:HS09004, NCBI Gene:23132, RefSeq DNA:NT_022517, RefSeq Protein:NP_055921, RefSeq RNA:NM_015106, UniProtKB:B3KV54, UniProtKB:Q9Y4B4 No chr3 51575596 51697634 51538683 51668660 +PA294 5883 HGNC:9827 ENSG00000172613 RAD9 checkpoint clamp component A RAD9A RAD9 homolog A (S. pombe) RAD9 Yes No Ensembl:ENSG00000172613, GeneCard:RAD9A, HGNC:HGNC:9827, HumanCyc Gene:HS10543, ModBase:Q99638, NCBI Gene:5883, OMIM:603761, RefSeq DNA:NT_167190, RefSeq Protein:NP_004575, RefSeq RNA:NM_004584, UCSC Genome Browser:NM_004584, UniProtKB:Q99638 No chr11 67159423 67165883 67391952 67398412 +PA134889252 144715 HGNC:21700 ENSG00000151164 RAD9 checkpoint clamp component B RAD9B RAD9 homolog B (S. pombe) FLJ40346 Yes No Ensembl:ENSG00000151164, GeneCard:RAD9B, HGNC:HGNC:21700, HumanCyc Gene:HS14356, ModBase:Q6WBX8, NCBI Gene:144715, OMIM:608368, RefSeq DNA:NT_009775, RefSeq Protein:NP_689655, RefSeq RNA:NM_152442, UniProtKB:Q6WBX8 No chr12 110940005 110973952 110501655 110534208 +PA164725261 55698 HGNC:22226 ENSG00000157927 Rap associating with DIL domain RADIL Ras association and DIL domains FLJ10324, KIAA1849, RASIP2 Yes No Comparative Toxicogenomics Database:55698, Ensembl:ENSG00000157927, GeneCard:RADIL, HGNC:HGNC:22226, HumanCyc Gene:HS08254, NCBI Gene:55698, OMIM:611491, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_060529, RefSeq RNA:NM_018059, UCSC Genome Browser:NM_018059, UniProtKB:Q96JH8 No chr7 4838736 4923335 4799109 4883704 +PA145149058 55086 HGNC:25486 ENSG00000147231 RPA1 related single stranded DNA binding protein, X-linked RADX chromosome X open reading frame 57 CXorf57, FLJ10178, FLJ14191 Yes No Comparative Toxicogenomics Database:55086, Ensembl:ENSG00000147231, GeneCard:CXorf57, HGNC:HGNC:25486, HumanCyc Gene:HS14200, ModBase:Q6NSI4, NCBI Gene:55086, RefSeq DNA:NG_021317, RefSeq DNA:NT_011651, RefSeq Protein:NP_001171711, RefSeq Protein:NP_060485, RefSeq RNA:NM_001184782, RefSeq RNA:NM_018015, UniProtKB:Q6NSI4 No chrX 105855160 105922673 106611930 106679443 +PA34182 8480 HGNC:9828 ENSG00000101146 ribonucleic acid export 1 RAE1 RAE1 RNA export 1 homolog (S. pombe) Gle2, Mnrp41 Yes No Comparative Toxicogenomics Database:8480, Ensembl:ENSG00000101146, GenAtlas:RAE1, GeneCard:RAE1, HGNC:HGNC:9828, HumanCyc Gene:HS02201, ModBase:P78406, NCBI Gene:8480, OMIM:603343, RefSeq DNA:NT_011362, RefSeq Protein:NP_001015885, RefSeq Protein:NP_003601, RefSeq RNA:NM_001015885, RefSeq RNA:NM_003610, UCSC Genome Browser:NM_003610, UniProtKB:A8K882, UniProtKB:P78406 No chr20 55926145 55953519 57350969 57378463 +PA134913788 135250 HGNC:16793 ENSG00000164520 retinoic acid early transcript 1E RAET1E LETAL, ULBP4, bA350J20.7 Yes No Ensembl:ENSG00000164520, GeneCard:RAET1E, HGNC:HGNC:16793, HumanCyc Gene:HS09090, ModBase:Q8TD07, NCBI Gene:135250, OMIM:609243, RefSeq DNA:NT_025741, RefSeq Protein:NP_631904, RefSeq RNA:NM_139165, UniProtKB:Q8TD07 No chr6 150204511 150217195 149864399 149898353 +PA134864722 353089 HGNC:16794 retinoic acid early transcript 1F pseudogene RAET1F Yes No GeneCard:RAET1F, HGNC:HGNC:16794, NCBI Gene:353089, RefSeq DNA:NG_005420, RefSeq DNA:NT_025741 No chr6 150231164 150231626 149910028 149910490 +PA134897742 353091 HGNC:16795 ENSG00000203722 retinoic acid early transcript 1G RAET1G ULBP5 Yes No Comparative Toxicogenomics Database:353091, Ensembl:ENSG00000203722, GeneCard:RAET1G, HGNC:HGNC:16795, ModBase:Q6H3X3, NCBI Gene:353091, OMIM:609244, RefSeq DNA:NT_025741, RefSeq Protein:NP_001001788, RefSeq RNA:NM_001001788, UniProtKB:Q6H3X3 No chr6 150238014 150244269 149916878 149926323 +PA134879019 646024 HGNC:16797 ENSG00000218358 retinoic acid early transcript 1K pseudogene RAET1K Yes No Ensembl:ENSG00000218358, GeneCard:RAET1K, HGNC:HGNC:16797, NCBI Gene:646024, RefSeq DNA:NT_025741, RefSeq RNA:NR_024045 No chr6 150319155 150326280 149998019 150005144 +PA134918665 154064 HGNC:16798 ENSG00000155918 retinoic acid early transcript 1L RAET1L Yes No Ensembl:ENSG00000155918, GeneCard:RAET1L, HGNC:HGNC:16798, HumanCyc Gene:HS08081, ModBase:Q5VY80, NCBI Gene:154064, OMIM:611047, RefSeq DNA:NT_025741, RefSeq Protein:NP_570970, RefSeq RNA:NM_130900, UniProtKB:Q5VY80 No chr6 150341266 150346668 150018334 150025596 +PA134957949 353094 HGNC:16799 ENSG00000216444 retinoic acid early transcript 1M pseudogene RAET1M Yes No Ensembl:ENSG00000216444, GeneCard:RAET1M, HGNC:HGNC:16799, NCBI Gene:353094, RefSeq DNA:NG_008390, RefSeq DNA:NT_025741 No chr6 150353905 150354702 150032769 150033566 +PA34183 5894 HGNC:9829 ENSG00000132155 Raf-1 proto-oncogene, serine/threonine kinase RAF1 """C-Raf proto-oncogene, serine/threonine kinase"", ""v-raf-1 murine leukemia viral oncogene homolog 1""" CRAF, Raf-1, c-Raf Yes Yes Comparative Toxicogenomics Database:5894, Ensembl:ENSG00000132155, GenAtlas:RAF1, GeneCard:RAF1, HGNC:HGNC:9829, HumanCyc Gene:HS05600, ModBase:P04049, NCBI Gene:5894, OMIM:164760, OMIM:611553, OMIM:611554, RefSeq DNA:NG_007467, RefSeq DNA:NT_022517, RefSeq Protein:NP_002871, RefSeq RNA:NM_002880, UCSC Genome Browser:NM_002880, UniProtKB:P04049 No chr3 12625100 12705700 12583601 12664201 +PA34184 348910 HGNC:9830 ENSG00000250040 v-raf-1 murine leukemia viral oncogene homolog 1 pseudogene 1 RAF1P1 Yes No Ensembl:ENSG00000250040, GenAtlas:RAF1P1, GeneCard:RAF1P1, HGNC:HGNC:9830, NCBI Gene:348910, RefSeq DNA:NG_003018, RefSeq DNA:NT_006316 No chr4 10256550 10258283 10254926 10256659 +PA34185 5896 HGNC:9831 ENSG00000166349 recombination activating 1 RAG1 RING finger protein 74, V(D)J recombination-activating protein 1, recombination activating gene 1, recombination activating protein 1 MGC43321, RNF74 Yes No Comparative Toxicogenomics Database:5896, Ensembl:ENSG00000166349, GenAtlas:RAG1, GeneCard:RAG1, HGNC:HGNC:9831, HumanCyc Gene:HS09382, ModBase:P15918, NCBI Gene:5896, OMIM:179615, OMIM:233650, OMIM:601457, OMIM:603554, OMIM:609889, RefSeq DNA:NG_007528, RefSeq DNA:NT_009237, RefSeq Protein:NP_000439, RefSeq RNA:NM_000448, UCSC Genome Browser:NM_000448, UniProtKB:P15918 No chr11 36532053 36601312 36510366 36579762 +PA34186 5897 HGNC:9832 ENSG00000175097 recombination activating 2 RAG2 recombination activating gene 2 Yes No Comparative Toxicogenomics Database:5897, Ensembl:ENSG00000175097, GenAtlas:RAG2, GeneCard:RAG2, HGNC:HGNC:9832, HumanCyc Gene:HS10878, ModBase:P55895, NCBI Gene:5897, OMIM:179616, OMIM:233650, OMIM:601457, OMIM:603554, RefSeq DNA:NG_007573, RefSeq DNA:NT_009237, RefSeq Protein:NP_000527, RefSeq RNA:NM_000536, RefSeq RNA:NR_033666, UCSC Genome Browser:NM_000536, UniProtKB:P55895 No chr11 36613493 36619829 36591943 36598279 +PA34188 10743 HGNC:9834 ENSG00000108557 retinoic acid induced 1 RAI1 DKFZP434A139, KIAA1820, MGC12824, SMCR, SMS Yes No Comparative Toxicogenomics Database:10743, Ensembl:ENSG00000108557, GenAtlas:RAI1, GeneCard:RAI1, HGNC:HGNC:9834, HumanCyc Gene:HS03123, ModBase:Q7Z5J4, NCBI Gene:10743, OMIM:182290, OMIM:607642, RefSeq DNA:NG_007101, RefSeq DNA:NT_010718, RefSeq Protein:NP_109590, RefSeq RNA:NM_030665, UCSC Genome Browser:NM_017574, UCSC Genome Browser:NM_030665, UniProtKB:Q7Z5J4 No chr17 17584787 17714767 17681376 17811453 +PA34189 26064 HGNC:14873 ENSG00000039560 retinoic acid induced 14 RAI14 novel retinal pigment epithelial DKFZp564G013, KIAA1334, NORPEG, RAI13 Yes No Comparative Toxicogenomics Database:26064, Ensembl:ENSG00000039560, GenAtlas:RAI14, GeneCard:RAI14, HGNC:HGNC:14873, HumanCyc Gene:HS12090, ModBase:Q9P0K7, NCBI Gene:26064, OMIM:606586, RefSeq DNA:NT_006576, RefSeq Protein:NP_001138992, RefSeq Protein:NP_001138993, RefSeq Protein:NP_001138994, RefSeq Protein:NP_001138995, RefSeq Protein:NP_001138997, RefSeq Protein:NP_056392, RefSeq RNA:NM_001145520, RefSeq RNA:NM_001145521, RefSeq RNA:NM_001145522, RefSeq RNA:NM_001145523, RefSeq RNA:NM_001145525, RefSeq RNA:NM_015577, UCSC Genome Browser:NM_015577, UniProtKB:Q9P0K7 No chr5 34656342 34832717 34656328 34832612 +PA34193 10742 HGNC:9835 ENSG00000131831 retinoic acid induced 2 RAI2 Yes No Comparative Toxicogenomics Database:10742, Ensembl:ENSG00000131831, GenAtlas:RAI2, GeneCard:RAI2, HGNC:HGNC:9835, HumanCyc Gene:HS05574, NCBI Gene:10742, OMIM:300217, RefSeq DNA:NG_016739, RefSeq DNA:NT_167197, RefSeq Protein:NP_001166203, RefSeq Protein:NP_001166210, RefSeq Protein:NP_001166214, RefSeq Protein:NP_068557, RefSeq RNA:NM_001172732, RefSeq RNA:NM_001172739, RefSeq RNA:NM_001172743, RefSeq RNA:NM_021785, RefSeq RNA:NR_033348, RefSeq RNA:NR_033349, UCSC Genome Browser:NM_021785, UniProtKB:B2RBE9, UniProtKB:B3KPD7, UniProtKB:B4DQM9, UniProtKB:Q9Y5P3 No chrX 17818169 17879457 17800049 17861346 +PA34197 5898 HGNC:9839 ENSG00000006451 RAS like proto-oncogene A RALA RAS-like protein A, Ras family small GTP binding protein RALA, Ras-related protein Ral-A, ras related GTP binding protein A, v-ral simian leukemia viral oncogene homolog A (ras related) RAL Yes No Comparative Toxicogenomics Database:5898, Ensembl:ENSG00000006451, GenAtlas:RALA, GeneCard:RALA, HGNC:HGNC:9839, HumanCyc Gene:HS00178, ModBase:P11233, NCBI Gene:5898, OMIM:179550, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_005393, RefSeq RNA:NM_005402, UCSC Genome Browser:NM_005402, UniProtKB:P11233 No chr7 39663152 39747723 39622955 39708124 +PA34198 5899 HGNC:9840 ENSG00000144118 RAS like proto-oncogene B RALB ras related GTP binding protein B, v-ral simian leukemia viral oncogene homolog B, v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) Yes No Comparative Toxicogenomics Database:5899, Ensembl:ENSG00000144118, GenAtlas:RALB, GeneCard:RALB, HGNC:HGNC:9840, HumanCyc Gene:HS07147, ModBase:P11234, NCBI Gene:5899, OMIM:179551, RefSeq DNA:NT_022135, RefSeq Protein:NP_002872, RefSeq RNA:NM_002881, UCSC Genome Browser:NM_002881, UniProtKB:P11234, UniProtKB:Q53T32, UniProtKB:Q6ZS74 No chr2 120997646 121052287 120240070 120294711 +PA34199 10928 HGNC:9841 ENSG00000017797 ralA binding protein 1 RALBP1 RIP, RIP1, RLIP76 Yes Yes Comparative Toxicogenomics Database:10928, Ensembl:ENSG00000017797, GenAtlas:RALBP1, GeneCard:RALBP1, HGNC:HGNC:9841, HumanCyc Gene:HS00384, ModBase:Q15311, NCBI Gene:10928, OMIM:605801, RefSeq DNA:NT_010859, RefSeq Protein:NP_006779, RefSeq RNA:NM_006788, UCSC Genome Browser:NM_006788, UniProtKB:Q15311 No chr18 9475530 9538106 9475532 9538108 +PA165479278 253959 HGNC:17770 ENSG00000174373 Ral GTPase activating protein catalytic subunit alpha 1 RALGAPA1 """GAP-related interacting protein to E12"", ""Ral GTPase activating protein catalytic alpha subunit 1"", ""Ral GTPase activating protein, alpha subunit 1 (catalytic)"", ""tuberin-like protein 1""" DKFZp667F074, GARNL1, GRIPE, KIAA0884, RalGAPalpha1, Tulip1 Yes No Comparative Toxicogenomics Database:253959, Ensembl:ENSG00000174373, GeneCard:RALGAPA1, HGNC:HGNC:17770, ModBase:Q6GYQ0, NCBI Gene:253959, OMIM:608884, RefSeq DNA:NT_026437, RefSeq Protein:NP_055805, RefSeq Protein:NP_919277, RefSeq RNA:NM_014990, RefSeq RNA:NM_194301, UniProtKB:Q6GYQ0 No chr14 36007558 36278432 35538352 35809304 +PA25784 57186 HGNC:16207 ENSG00000188559 Ral GTPase activating protein catalytic subunit alpha 2 RALGAPA2 """Ral GTPase activating protein catalytic alpha subunit 2"", ""Ral GTPase activating protein, alpha subunit 2 (catalytic)""" AS250, C20orf74, KIAA1272, RapGAPalpha2, dJ1049G11.4 Yes Yes Ensembl:ENSG00000188559, GenAtlas:C20orf74, GeneCard:C20orf74, GeneCard:RALGAPA2, HGNC:HGNC:16207, NCBI Gene:57186, RefSeq DNA:NT_011387, RefSeq Protein:NP_065076, RefSeq RNA:NM_020343, UniProtKB:Q2PPJ7 No chr20 20370202 20693281 20389558 20712638 +PA165392608 57148 HGNC:29221 ENSG00000170471 Ral GTPase activating protein non-catalytic subunit beta RALGAPB """Ral GTPase activating protein non-catalytic beta subunit"", ""Ral GTPase activating protein, beta subunit (non-catalytic)""" DKFZp781M2411, KIAA1219, RalGAPbeta Yes No Ensembl:ENSG00000170471, GeneCard:RALGAPB, HGNC:HGNC:29221, ModBase:Q9Y3G9, NCBI Gene:57148, RefSeq DNA:NT_011362, RefSeq Protein:NP_065069, RefSeq RNA:NM_020336, UniProtKB:Q86X10 No chr20 37101486 37207504 38472806 38578861 +PA34200 5900 HGNC:9842 ENSG00000160271 ral guanine nucleotide dissociation stimulator RALGDS RGDS, RGF, RalGEF Yes No Comparative Toxicogenomics Database:5900, Ensembl:ENSG00000160271, GenAtlas:RALGDS, GeneCard:RALGDS, HGNC:HGNC:9842, HumanCyc Gene:HS08478, ModBase:Q12967, NCBI Gene:5900, OMIM:601619, RefSeq DNA:NT_035014, RefSeq Protein:NP_001035827, RefSeq Protein:NP_006257, RefSeq RNA:NM_001042368, RefSeq RNA:NM_006266, UCSC Genome Browser:NM_006266, UniProtKB:Q12967, UniProtKB:Q6KH11, UniProtKB:Q6PCE1, UniProtKB:Q6ZSD5, UniProtKB:Q8N4Y1 No chr9 135973107 136024607 133097720 133149220 +PA134907502 9649 HGNC:16851 ENSG00000136828 Ral GEF with PH domain and SH3 binding motif 1 RALGPS1 KIAA0351, RALGEF2, RALGPS1A Yes No Comparative Toxicogenomics Database:9649, Ensembl:ENSG00000136828, GeneCard:RALGPS1, HGNC:HGNC:16851, HumanCyc Gene:HS06220, ModBase:Q9NZ16, NCBI Gene:9649, RefSeq DNA:NT_008470, RefSeq Protein:NP_001177657, RefSeq Protein:NP_001177658, RefSeq Protein:NP_001177659, RefSeq Protein:NP_055451, RefSeq RNA:NM_001190728, RefSeq RNA:NM_001190729, RefSeq RNA:NM_001190730, RefSeq RNA:NM_014636, UniProtKB:Q5JS13 No chr9 129677053 129985445 126914774 127223166 +PA134864387 55103 HGNC:30279 ENSG00000116191 Ral GEF with PH domain and SH3 binding motif 2 RALGPS2 FLJ10244, FLJ25604, KIAA0351 Yes No Comparative Toxicogenomics Database:55103, Ensembl:ENSG00000116191, GeneCard:RALGPS2, HGNC:HGNC:30279, HumanCyc Gene:HS03994, ModBase:Q86X27, NCBI Gene:55103, RefSeq DNA:NT_004487, RefSeq Protein:NP_689876, RefSeq RNA:NM_152663, UniProtKB:Q86X27 No chr1 178694300 178890975 178725147 178921842 +PA34201 22913 HGNC:15921 ENSG00000125970 RALY heterogeneous nuclear ribonucleoprotein RALY RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse)) HNRPCL2, P542 Yes No Comparative Toxicogenomics Database:22913, Ensembl:ENSG00000125970, GenAtlas:RALY, GeneCard:RALY, HGNC:HGNC:15921, HumanCyc Gene:HS04981, ModBase:Q9UKM9, NCBI Gene:22913, RefSeq DNA:NT_011362, RefSeq Protein:NP_031393, RefSeq Protein:NP_057951, RefSeq RNA:NM_007367, RefSeq RNA:NM_016732, UCSC Genome Browser:NM_007367, UniProtKB:Q9UKM9 No chr20 32581458 32670991 33993652 34084884 +PA162400636 138046 HGNC:27036 ENSG00000184672 RALY RNA binding protein like RALYL RALY RNA binding protein-like HNRPCL3 Yes No Ensembl:ENSG00000184672, GeneCard:RALYL, HGNC:HGNC:27036, ModBase:Q86SE5, NCBI Gene:138046, RefSeq DNA:NT_008183, RefSeq Protein:NP_001093861, RefSeq Protein:NP_001093862, RefSeq Protein:NP_001093863, RefSeq Protein:NP_776247, RefSeq RNA:NM_001100391, RefSeq RNA:NM_001100392, RefSeq RNA:NM_001100393, RefSeq RNA:NM_173848, UniProtKB:B3KSX3, UniProtKB:B3KT61, UniProtKB:Q86SE5 No chr8 85095453 85834079 84182629 84921844 +PA142671786 83640 HGNC:31022 ENSG00000169612 RNA guanine-7 methyltransferase activating subunit RAMAC """RNMT-activating mini protein"", ""family with sequence similarity 103, member A1""" C15orf18, FAM103A1, HsT19360, MGC2560, RAM, RAMMET Yes No Ensembl:ENSG00000169612, GeneCard:FAM103A1, HGNC:HGNC:31022, HumanCyc Gene:HS15793, NCBI Gene:83640, RefSeq DNA:NT_077661, RefSeq Protein:NP_113640, RefSeq RNA:NM_031452, UniProtKB:Q9BTL3 No chr15 83654955 83659809 82986203 82991057 +PA166352064 353267 HGNC:21234 RNA guanine-7 methyltransferase activating subunit like RAMACL C6orf119, FAM103A2P, RAMMETL, dJ427A4.2 Yes No HGNC:HGNC:21234, NCBI Gene:353267 No 0 0 0 0 +PA34202 10267 HGNC:9843 ENSG00000132329 receptor activity modifying protein 1 RAMP1 receptor (G protein-coupled) activity modifying protein 1 Yes Yes Comparative Toxicogenomics Database:10267, Ensembl:ENSG00000132329, GenAtlas:RAMP1, GeneCard:RAMP1, HGNC:HGNC:9843, HumanCyc Gene:HS05619, IUPHAR Receptor:51, NCBI Gene:10267, OMIM:605153, RefSeq DNA:NT_005120, RefSeq Protein:NP_005846, RefSeq RNA:NM_005855, UCSC Genome Browser:NM_005855, UniProtKB:O60894 No chr2 238768187 238820756 237858714 237912117 +PA34203 10266 HGNC:9844 ENSG00000131477 receptor activity modifying protein 2 RAMP2 receptor (G protein-coupled) activity modifying protein 2 Yes No Comparative Toxicogenomics Database:10266, Ensembl:ENSG00000131477, GenAtlas:RAMP2, GeneCard:RAMP2, HGNC:HGNC:9844, HumanCyc Gene:HS05536, IUPHAR Receptor:52, ModBase:O60895, NCBI Gene:10266, OMIM:605154, RefSeq DNA:NT_010783, RefSeq Protein:NP_005845, RefSeq RNA:NM_005854, UCSC Genome Browser:NM_005854, UniProtKB:O60895 No chr17 40913145 40915063 42761194 42763041 +PA34204 10268 HGNC:9845 ENSG00000122679 receptor activity modifying protein 3 RAMP3 receptor (G protein-coupled) activity modifying protein 3 Yes No Comparative Toxicogenomics Database:10268, Ensembl:ENSG00000122679, GenAtlas:RAMP3, GeneCard:RAMP3, HGNC:HGNC:9845, HumanCyc Gene:HS04588, IUPHAR Receptor:53, ModBase:O60896, NCBI Gene:10268, OMIM:605155, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_005847, RefSeq RNA:NM_005856, UCSC Genome Browser:NM_005856, UniProtKB:A4D2L1, UniProtKB:O60896 No chr7 45197367 45223849 45157768 45184250 +PA34205 5901 HGNC:9846 ENSG00000132341 RAN, member RAS oncogene family RAN ARA24, Gsp1, TC4 Yes No Comparative Toxicogenomics Database:5901, Ensembl:ENSG00000132341, GenAtlas:RAN, GeneCard:RAN, HGNC:HGNC:9846, HumanCyc Gene:HS05622, ModBase:Q9CWI7, NCBI Gene:5901, OMIM:601179, RefSeq DNA:NT_009755, RefSeq Protein:NP_006316, RefSeq RNA:NM_006325, UCSC Genome Browser:NM_006325, UniProtKB:A8K3Z8, UniProtKB:P62826 No chr12 131356617 131362220 130871879 130877678 +PA34206 5902 HGNC:9847 ENSG00000099901 RAN binding protein 1 RANBP1 HTF9A Yes No Comparative Toxicogenomics Database:5902, Ensembl:ENSG00000099901, GenAtlas:RANBP1, GeneCard:RANBP1, HGNC:HGNC:9847, HumanCyc Gene:HS01928, ModBase:P43487, NCBI Gene:5902, OMIM:601180, RefSeq DNA:NT_011519, RefSeq Protein:NP_002873, RefSeq RNA:NM_002882, UCSC Genome Browser:NM_002882, UniProtKB:P43487 No chr22 20103461 20114880 20115938 20127357 +PA134929520 57610 HGNC:29285 ENSG00000141084 RAN binding protein 10 RANBP10 KIAA1464 Yes No Comparative Toxicogenomics Database:57610, Ensembl:ENSG00000141084, GeneCard:RANBP10, HGNC:HGNC:29285, ModBase:Q6VN20, NCBI Gene:57610, RefSeq DNA:NT_010498, RefSeq Protein:NP_065901, RefSeq RNA:NM_020850, UniProtKB:Q6VN20 No chr16 67756973 67840788 67723066 67806652 +PA34208 64901 HGNC:14428 ENSG00000204764 RAN binding protein 17 RANBP17 Yes No Ensembl:ENSG00000204764, GenAtlas:RANBP17, GeneCard:RANBP17, HGNC:HGNC:14428, ModBase:Q9H2T7, NCBI Gene:64901, OMIM:606141, RefSeq DNA:NT_023133, RefSeq Protein:NP_075048, RefSeq RNA:NM_022897, UCSC Genome Browser:NM_022897, UniProtKB:Q546R4, UniProtKB:Q9H2T7 No chr5 170288880 170727454 170861882 171300015 +PA34209 5903 HGNC:9848 ENSG00000153201 RAN binding protein 2 RANBP2 nucleoporin 358 ADANE, ANE1, NUP358 Yes No Comparative Toxicogenomics Database:5903, Ensembl:ENSG00000153201, GenAtlas:RANBP2, GeneCard:RANBP2, HGNC:HGNC:9848, HumanCyc Gene:HS07889, ModBase:P49792, NCBI Gene:5903, OMIM:601181, OMIM:608033, RefSeq DNA:NG_012210, RefSeq DNA:NT_022171, RefSeq Protein:NP_006258, RefSeq RNA:NM_006267, UCSC Genome Browser:NM_006267, UniProtKB:P49792 No chr2 109335902 109402267 108719446 109842301 +PA134862721 326627 HGNC:19734 ENSG00000259144 RAN binding protein 20 pseudogene RANBP20P Yes No Ensembl:ENSG00000259144, GeneCard:RANBP20P, HGNC:HGNC:19734, NCBI Gene:326627, RefSeq DNA:NG_002609, RefSeq DNA:NT_026437 No chr14 21188964 21191300 20720805 20723141 +PA34211 8498 HGNC:9850 ENSG00000031823 RAN binding protein 3 RANBP3 Yes No Comparative Toxicogenomics Database:8498, Ensembl:ENSG00000031823, GenAtlas:RANBP3, GeneCard:RANBP3, HGNC:HGNC:9850, HumanCyc Gene:HS00482, ModBase:Q9H6Z4, NCBI Gene:8498, OMIM:603327, RefSeq DNA:NT_011255, RefSeq Protein:NP_003615, RefSeq Protein:NP_015559, RefSeq Protein:NP_015561, RefSeq RNA:NM_003624, RefSeq RNA:NM_007320, RefSeq RNA:NM_007322, UCSC Genome Browser:NM_003624, UniProtKB:Q53GE1, UniProtKB:Q9H6Z4 No chr19 5916150 5978320 5916139 5978309 +PA162400660 202151 HGNC:26353 ENSG00000164188 RAN binding protein 3 like RANBP3L RAN binding protein 3-like FLJ25422 Yes No Ensembl:ENSG00000164188, GeneCard:RANBP3L, HGNC:HGNC:26353, HumanCyc Gene:HS15167, ModBase:Q86VV4, NCBI Gene:202151, RefSeq DNA:NT_006576, RefSeq Protein:NP_001154901, RefSeq Protein:NP_659437, RefSeq RNA:NM_001161429, RefSeq RNA:NM_145000, UniProtKB:B7Z866, UniProtKB:Q86VV4 No chr5 36247950 36302011 36246919 36301936 +PA34212 26953 HGNC:9851 ENSG00000137040 RAN binding protein 6 RANBP6 Yes No Comparative Toxicogenomics Database:26953, Ensembl:ENSG00000137040, GenAtlas:RANBP6, GeneCard:RANBP6, HGNC:HGNC:9851, ModBase:O60518, NCBI Gene:26953, RefSeq DNA:NT_008413, RefSeq Protein:NP_036548, RefSeq RNA:NM_012416, RefSeq RNA:NR_024094, RefSeq RNA:NR_024095, UniProtKB:O60518 No chr9 6011019 6015640 6011019 6015660 +PA34215 10048 HGNC:13727 ENSG00000010017 RAN binding protein 9 RANBP9 Ran Binding Protein in the Microtubule organizing center RanBPM Yes No Comparative Toxicogenomics Database:10048, Ensembl:ENSG00000010017, GenAtlas:RANBP9, GeneCard:RANBP9, HGNC:HGNC:13727, HumanCyc Gene:HS00271, ModBase:Q96S59, NCBI Gene:10048, OMIM:603854, RefSeq DNA:NT_007592, RefSeq Protein:NP_005484, RefSeq RNA:NM_005493, UCSC Genome Browser:NM_005493, UniProtKB:Q96S59 No chr6 13621730 13711796 13621498 13711582 +PA34216 5905 HGNC:9854 ENSG00000100401 Ran GTPase activating protein 1 RANGAP1 Fug1, KIAA1835, SD Yes No Comparative Toxicogenomics Database:5905, Ensembl:ENSG00000100401, GenAtlas:RANGAP1, GeneCard:RANGAP1, HGNC:HGNC:9854, HumanCyc Gene:HS02073, ModBase:P46060, NCBI Gene:5905, OMIM:602362, RefSeq DNA:NT_011520, RefSeq Protein:NP_002874, RefSeq RNA:NM_002883, UCSC Genome Browser:NM_002883, UniProtKB:P46060 No chr22 41640781 41682255 41244777 41302213 +PA162400661 29098 HGNC:17679 ENSG00000108961 RAN guanine nucleotide release factor RANGRF MOG1 homolog (S. cerevisiae) HSPC165, HSPC236, MOG1, RANGNRF Yes No Ensembl:ENSG00000108961, GeneCard:RANGRF, HGNC:HGNC:17679, HumanCyc Gene:HS12684, ModBase:Q9HD47, NCBI Gene:29098, OMIM:607954, RefSeq DNA:NT_010718, RefSeq Protein:NP_001171272, RefSeq Protein:NP_001171273, RefSeq Protein:NP_057576, RefSeq RNA:NM_001177801, RefSeq RNA:NM_001177802, RefSeq RNA:NM_016492, UniProtKB:Q9HD47 No chr17 8191745 8193409 8287150 8290091 +PA134923988 221547 HGNC:21631 ENSG00000236603 RAN, member RAS oncogene family pseudogene 1 RANP1 Em:AB014080.2 Yes No Ensembl:ENSG00000236603, GeneCard:RANP1, HGNC:HGNC:21631, NCBI Gene:221547, RefSeq DNA:NG_002749, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 30453662 30454724 30485885 30486976 +PA34217 5906 HGNC:9855 ENSG00000116473 RAP1A, member of RAS oncogene family RAP1A KREV-1, SMGP21 Yes No Comparative Toxicogenomics Database:5906, Ensembl:ENSG00000116473, GenAtlas:RAP1A, GeneCard:RAP1A, HGNC:HGNC:9855, HumanCyc Gene:HS04014, ModBase:P62834, NCBI Gene:5906, OMIM:179520, RefSeq DNA:NT_032977, RefSeq Protein:NP_001010935, RefSeq Protein:NP_002875, RefSeq RNA:NM_001010935, RefSeq RNA:NM_002884, UCSC Genome Browser:NM_002884, UniProtKB:A8KAH9, UniProtKB:P62834 No chr1 112162405 112256807 111542223 111716695 +PA34218 5907 HGNC:9856 ENSG00000258769 RAP1A, member of RAS oncogene family pseudogene RAP1AP KREV1P, SMGP21A Yes No Ensembl:ENSG00000258769, GenAtlas:RAP1AP, GeneCard:RAP1AP, HGNC:HGNC:9856, NCBI Gene:5907, RefSeq DNA:NG_004799, RefSeq DNA:NT_026437 No chr14 74949550 74950869 74482847 74484166 +PA34219 5908 HGNC:9857 ENSG00000127314 RAP1B, member of RAS oncogene family RAP1B DKFZp586H0723, K-REV, RAL1B Yes No Comparative Toxicogenomics Database:5908, Ensembl:ENSG00000127314, GenAtlas:RAP1B, GeneCard:RAP1B, HGNC:HGNC:9857, HumanCyc Gene:HS05081, ModBase:P61224, NCBI Gene:5908, OMIM:179530, RefSeq DNA:NT_029419, RefSeq Protein:NP_001010942, RefSeq Protein:NP_056461, RefSeq RNA:NM_001010942, RefSeq RNA:NM_015646, UCSC Genome Browser:NM_015646, UniProtKB:P61224 No chr12 69004619 69054385 68610839 68660605 +PA34220 5909 HGNC:9858 ENSG00000076864 RAP1 GTPase activating protein RAP1GAP KIAA0474, RAP1GA1, RAP1GAP1, RAP1GAPII Yes No Comparative Toxicogenomics Database:5909, Ensembl:ENSG00000076864, GenAtlas:RAP1GAP, GeneCard:RAP1GAP, HGNC:HGNC:9858, HumanCyc Gene:HS01220, NCBI Gene:5909, OMIM:600278, RefSeq DNA:NT_004610, RefSeq Protein:NP_001139129, RefSeq Protein:NP_001139130, RefSeq Protein:NP_002876, RefSeq RNA:NM_001145657, RefSeq RNA:NM_001145658, RefSeq RNA:NM_002885, UCSC Genome Browser:NM_002885, UniProtKB:P47736, UniProtKB:Q7Z5S8 No chr1 21922708 21996010 21596215 21669444 +PA165432528 23108 HGNC:29176 ENSG00000132359 RAP1 GTPase activating protein 2 RAP1GAP2 GARNL4, KIAA1039 Yes No Comparative Toxicogenomics Database:23108, Ensembl:ENSG00000132359, GeneCard:RAP1GAP2, HGNC:HGNC:29176, ModBase:Q684P5, NCBI Gene:23108, RefSeq DNA:NG_013030, RefSeq DNA:NT_010718, RefSeq Protein:NP_001093868, RefSeq Protein:NP_055900, RefSeq RNA:NM_001100398, RefSeq RNA:NM_015085, UniProtKB:Q684P5 No chr17 2659050 2941035 2755698 3037741 +PA34221 5910 HGNC:9859 ENSG00000138698 Rap1 GTPase-GDP dissociation stimulator 1 RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 SmgGDS Yes No Ensembl:ENSG00000138698, GenAtlas:RAP1GDS1, GeneCard:RAP1GDS1, HGNC:HGNC:9859, HumanCyc Gene:HS06539, ModBase:P52306, NCBI Gene:5910, OMIM:179502, RefSeq DNA:NT_016354, RefSeq Protein:NP_001093896, RefSeq Protein:NP_001093897, RefSeq Protein:NP_001093898, RefSeq Protein:NP_001093899, RefSeq Protein:NP_001093900, RefSeq Protein:NP_066982, RefSeq RNA:NM_001100426, RefSeq RNA:NM_001100427, RefSeq RNA:NM_001100428, RefSeq RNA:NM_001100429, RefSeq RNA:NM_001100430, RefSeq RNA:NM_021159, UCSC Genome Browser:NM_021159, UniProtKB:B3KNU0, UniProtKB:P52306, UniProtKB:Q499L7, UniProtKB:Q4QQI8, UniProtKB:Q6U7G8, UniProtKB:Q9BUX6 No chr4 99182527 99365012 98261376 98443861 +PA34222 5911 HGNC:9861 ENSG00000125249 RAP2A, member of RAS oncogene family RAP2A K-REV, RAP2 Yes No Comparative Toxicogenomics Database:5911, Ensembl:ENSG00000125249, GenAtlas:RAP2A, GeneCard:RAP2A, HGNC:HGNC:9861, HumanCyc Gene:HS04863, ModBase:P10114, NCBI Gene:5911, OMIM:179540, RefSeq DNA:NT_009952, RefSeq Protein:NP_066361, RefSeq RNA:NM_021033, UCSC Genome Browser:NM_021033, UniProtKB:P10114 No chr13 98086475 98120252 97434221 97467998 +PA34223 5912 HGNC:9862 ENSG00000181467 RAP2B, member of RAS oncogene family RAP2B Ras family small GTP binding protein RAP2B, Ras-related protein RAP-2B, small GTP binding protein Yes No Comparative Toxicogenomics Database:5912, Ensembl:ENSG00000181467, GenAtlas:RAP2B, GeneCard:RAP2B, HGNC:HGNC:9862, HumanCyc Gene:HS11622, ModBase:P61225, NCBI Gene:5912, OMIM:179541, RefSeq DNA:NT_005612, RefSeq Protein:NP_002877, RefSeq RNA:NM_002886, UCSC Genome Browser:NM_002886, UniProtKB:P61225, UniProtKB:Q5JQ44 No chr3 152880001 152888413 153162212 153170624 +PA134899238 57826 HGNC:21165 ENSG00000123728 RAP2C, member of RAS oncogene family RAP2C DKFZp313B211 Yes No Comparative Toxicogenomics Database:57826, Ensembl:ENSG00000123728, GeneCard:RAP2C, HGNC:HGNC:21165, HumanCyc Gene:HS04687, ModBase:Q9Y3L5, NCBI Gene:57826, RefSeq DNA:NT_011786, RefSeq Protein:NP_067006, RefSeq RNA:NM_021183, UniProtKB:Q9Y3L5 No chrX 131337052 131353508 132203024 132219480 +PA28964 2889 HGNC:4568 ENSG00000107263 Rap guanine nucleotide exchange factor 1 RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 C3G, GRF2 Yes No Comparative Toxicogenomics Database:2889, Ensembl:ENSG00000107263, GenAtlas:RAPGEF1, GeneCard:RAPGEF1, HGNC:HGNC:4568, HumanCyc Gene:HS02984, ModBase:Q13905, NCBI Gene:2889, OMIM:600303, RefSeq DNA:NT_035014, RefSeq Protein:NP_005303, RefSeq Protein:NP_941372, RefSeq RNA:NM_005312, RefSeq RNA:NM_198679, UCSC Genome Browser:NM_005312, UniProtKB:Q13905, UniProtKB:Q8IV73 No chr9 134452157 134615364 131576770 131740068 +PA130413152 9693 HGNC:16854 ENSG00000109756 Rap guanine nucleotide exchange factor 2 RAPGEF2 Rap GEP, Rap guanine nucleotide exchange factor (GEF) 2 DKFZP586O1422, KIAA0313, PDZ-GEF1, PDZGEF1, RA-GEF Yes No Comparative Toxicogenomics Database:9693, Ensembl:ENSG00000109756, GeneCard:RAPGEF2, HGNC:HGNC:16854, HumanCyc Gene:HS03255, ModBase:Q9Y4G8, NCBI Gene:9693, OMIM:609530, RefSeq DNA:NT_016354, RefSeq Protein:NP_055062, RefSeq RNA:NM_014247, UniProtKB:Q9Y4G8 No chr4 160025224 160281314 159104067 159360164 +PA134910959 10411 HGNC:16629 ENSG00000079337 Rap guanine nucleotide exchange factor 3 RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3, exchange protein directly activated by cAMP 1 EPAC, bcm910, cAMP-GEFI Yes No Comparative Toxicogenomics Database:10411, Ensembl:ENSG00000079337, GeneCard:RAPGEF3, HGNC:HGNC:16629, HumanCyc Gene:HS01323, ModBase:O95398, NCBI Gene:10411, OMIM:606057, RefSeq DNA:NT_029419, RefSeq Protein:NP_001092001, RefSeq Protein:NP_001092002, RefSeq Protein:NP_006096, RefSeq RNA:NM_001098531, RefSeq RNA:NM_001098532, RefSeq RNA:NM_006105, UniProtKB:A8K2G5, UniProtKB:O95398 No chr12 48128453 48164846 47734670 47759106 +PA134861108 11069 HGNC:16626 ENSG00000091428 Rap guanine nucleotide exchange factor 4 RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4, cAMP-regulated guanine nucleotide exchange factor II, exchange protein directly activated by cAMP 2 CGEF2, cAMP-GEFII Yes No Comparative Toxicogenomics Database:11069, Ensembl:ENSG00000091428, GeneCard:RAPGEF4, HGNC:HGNC:16626, HumanCyc Gene:HS01732, ModBase:Q8WZA2, NCBI Gene:11069, OMIM:606058, RefSeq DNA:NT_005403, RefSeq Protein:NP_001093867, RefSeq Protein:NP_008954, RefSeq RNA:NM_001100397, RefSeq RNA:NM_007023, UniProtKB:Q8WZA2 No chr2 173600525 173917621 172735282 173052893 +PA134902361 9771 HGNC:16862 ENSG00000136237 Rap guanine nucleotide exchange factor 5 RAPGEF5 M-Ras-regulated GEF, Rap guanine nucleotide exchange factor (GEF) 5 GFR, KIAA0277, MR-GEF Yes Yes Comparative Toxicogenomics Database:9771, Ensembl:ENSG00000136237, GeneCard:RAPGEF5, HGNC:HGNC:16862, HumanCyc Gene:HS06133, ModBase:Q92565, NCBI Gene:9771, OMIM:609527, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_036426, RefSeq RNA:NM_012294, UniProtKB:Q5JPD2, UniProtKB:Q92565 No chr7 22157908 22396751 22118290 22357133 +PA134885793 51735 HGNC:20655 ENSG00000158987 Rap guanine nucleotide exchange factor 6 RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6 PDZ-GEF2, PDZGEF2, RA-GEF-2 Yes No Ensembl:ENSG00000158987, GeneCard:RAPGEF6, HGNC:HGNC:20655, HumanCyc Gene:HS08349, ModBase:Q8TEU7, NCBI Gene:51735, OMIM:610499, RefSeq DNA:NT_034772, RefSeq Protein:NP_001157858, RefSeq Protein:NP_001157859, RefSeq Protein:NP_001157860, RefSeq Protein:NP_001157861, RefSeq Protein:NP_001157862, RefSeq Protein:NP_057424, RefSeq RNA:NM_001164386, RefSeq RNA:NM_001164387, RefSeq RNA:NM_001164388, RefSeq RNA:NM_001164389, RefSeq RNA:NM_001164390, RefSeq RNA:NM_016340, UniProtKB:A3KN82, UniProtKB:A5PLL6, UniProtKB:B2RTU6, UniProtKB:B7ZML2, UniProtKB:Q8TEU7 No chr5 130759614 130970929 131423921 131635236 +PA134884826 51195 HGNC:17428 ENSG00000108352 Rap guanine nucleotide exchange factor like 1 RAPGEFL1 Link guanine nucleotide exchange factor II, Rap guanine nucleotide exchange factor (GEF)-like 1 Link-GEFII Yes No Ensembl:ENSG00000108352, GeneCard:RAPGEFL1, HGNC:HGNC:17428, HumanCyc Gene:HS03091, NCBI Gene:51195, RefSeq DNA:NT_010783, RefSeq Protein:NP_057423, RefSeq RNA:NM_016339, UniProtKB:Q9UHV5 No chr17 38334242 38351906 40177010 40195656 +PA24749 65059 HGNC:14436 ENSG00000173166 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 RAPH1 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18 ALS2CR18, ALS2CR9, KIAA1681 Yes No Ensembl:ENSG00000173166, GenAtlas:RAPH1, GeneCard:RAPH1, HGNC:HGNC:14436, HumanCyc Gene:HS10624, ModBase:Q70E73, NCBI Gene:65059, OMIM:609035, RefSeq DNA:NT_005403, RefSeq Protein:NP_976241, RefSeq Protein:NP_998754, RefSeq RNA:NM_203365, RefSeq RNA:NM_213589, UCSC Genome Browser:NM_025252, UniProtKB:Q70E73, UniProtKB:Q8N8R9 No chr2 204298538 204400058 203433682 203535335 +PA34224 5913 HGNC:9863 ENSG00000165917 receptor associated protein of the synapse RAPSN rapsyn, receptor-associated protein of the synapse CMS1D, CMS1E, RNF205 Yes No Comparative Toxicogenomics Database:5913, Ensembl:ENSG00000165917, GenAtlas:RAPSN, GeneCard:RAPSN, HGNC:HGNC:9863, HumanCyc Gene:HS09303, ModBase:Q13702, NCBI Gene:5913, OMIM:208150, OMIM:601592, OMIM:608931, RefSeq DNA:NG_008312, RefSeq DNA:NT_009237, RefSeq Protein:NP_005046, RefSeq Protein:NP_116034, RefSeq RNA:NM_005055, RefSeq RNA:NM_032645, UCSC Genome Browser:NM_005055, UniProtKB:Q13702 No chr11 47459308 47470730 47437757 47449178 +PA34225 5914 HGNC:9864 ENSG00000131759 retinoic acid receptor alpha RARA retinoic acid receptor, alpha NR1B1, RAR, RAR-alpha, RARalpha Yes No Comparative Toxicogenomics Database:5914, Ensembl:ENSG00000131759, GenAtlas:RARA, GeneCard:RARA, HGNC:HGNC:9864, HumanCyc Gene:HS05562, ModBase:P10276, NCBI Gene:5914, OMIM:180240, OMIM:612376, RefSeq DNA:NT_010783, RefSeq Protein:NP_000955, RefSeq Protein:NP_001019980, RefSeq Protein:NP_001138773, RefSeq Protein:NP_001138774, RefSeq RNA:NM_000964, RefSeq RNA:NM_001024809, RefSeq RNA:NM_001145301, RefSeq RNA:NM_001145302, UCSC Genome Browser:NM_000964, UniProtKB:A8K840, UniProtKB:B8Y636, UniProtKB:P10276, UniProtKB:Q6I9R7 No chr17 38465423 38513895 40309171 40357643 +PA34226 5915 HGNC:9865 ENSG00000077092 retinoic acid receptor beta RARB retinoic acid receptor, beta HAP, NR1B2, RAR-beta, RARbeta, RRB2 Yes No Comparative Toxicogenomics Database:5915, Ensembl:ENSG00000077092, GenAtlas:RARB, GeneCard:RARB, HGNC:HGNC:9865, HumanCyc Gene:HS01228, ModBase:P10826, NCBI Gene:5915, OMIM:180220, RefSeq DNA:NT_022517, RefSeq Protein:NP_000956, RefSeq Protein:NP_057236, RefSeq RNA:NM_000965, RefSeq RNA:NM_016152, UCSC Genome Browser:NM_000965, UniProtKB:P10826, UniProtKB:Q5QHG3 No chr3 25215638 25639423 24829323 25597932 +PA34227 5916 HGNC:9866 ENSG00000172819 retinoic acid receptor gamma RARG retinoic acid receptor, gamma NR1B3, RAR-gamma, RARC, RARgamma Yes Yes Comparative Toxicogenomics Database:5916, Ensembl:ENSG00000172819, GenAtlas:RARG, GeneCard:RARG, HGNC:HGNC:9866, HumanCyc Gene:HS10574, ModBase:P13631, ModBase:P22932, NCBI Gene:5916, OMIM:180190, RefSeq DNA:NT_029419, RefSeq Protein:NP_000957, RefSeq Protein:NP_001036193, RefSeq RNA:NM_000966, RefSeq RNA:NM_001042728, UCSC Genome Browser:NM_000966, UniProtKB:A8K3H3, UniProtKB:P13631 No chr12 53604350 53626040 53210566 53232256 +PA34228 5918 HGNC:9867 ENSG00000118849 retinoic acid receptor responder 1 RARRES1 latexin-like, retinoic acid receptor responder (tazarotene induced) 1 LXNL, TIG1 Yes No Comparative Toxicogenomics Database:5918, Ensembl:ENSG00000118849, GenAtlas:RARRES1, GeneCard:RARRES1, HGNC:HGNC:9867, HumanCyc Gene:HS04254, ModBase:P49788, NCBI Gene:5918, OMIM:605090, RefSeq DNA:NT_005612, RefSeq Protein:NP_002879, RefSeq Protein:NP_996846, RefSeq RNA:NM_002888, RefSeq RNA:NM_206963, UCSC Genome Browser:NM_002888, UniProtKB:P49788 No chr3 158414892 158450642 158697103 158732944 +PA34229 5919 HGNC:9868 ENSG00000106538 retinoic acid receptor responder 2 RARRES2 chemerin, retinoic acid receptor responder (tazarotene induced) 2 HP10433, TIG2 Yes No Comparative Toxicogenomics Database:5919, Ensembl:ENSG00000106538, GenAtlas:RARRES2, GeneCard:RARRES2, HGNC:HGNC:9868, HumanCyc Gene:HS02920, ModBase:Q99969, NCBI Gene:5919, OMIM:601973, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_002880, RefSeq RNA:NM_002889, UCSC Genome Browser:NM_002889, UniProtKB:Q7LE02, UniProtKB:Q99969 No chr7 150031033 150038773 150338318 150341685 +PA34231 5917 HGNC:9870 arginyl-tRNA synthetase 1 RARS1 """arginine tRNA ligase 1, cytoplasmic"", ""arginyl-tRNA synthetase""" DALRD1, RARS Yes Yes Comparative Toxicogenomics Database:5917, GenAtlas:RARS, GeneCard:RARS, HGNC:HGNC:9870, HumanCyc Gene:HS03704, ModBase:P54136, NCBI Gene:5917, OMIM:107820, RefSeq DNA:NT_023133, RefSeq Protein:NP_002878, RefSeq RNA:NM_002887, UCSC Genome Browser:NM_002887, UniProtKB:P54136 No chr5 167913463 167946311 168486458 168519306 +PA162400662 57038 HGNC:21406 ENSG00000146282 arginyl-tRNA synthetase 2, mitochondrial RARS2 arginine tRNA ligase 2, mitochondrial (putative) DALRD2, MGC14993, MGC23778, PRO1992, RARSL, dJ382I10.6 Yes No Ensembl:ENSG00000146282, GeneCard:RARS2, HGNC:HGNC:21406, HumanCyc Gene:HS07340, ModBase:Q5T160, NCBI Gene:57038, OMIM:611523, OMIM:611524, RefSeq DNA:NG_008601, RefSeq DNA:NT_007299, RefSeq Protein:NP_064716, RefSeq RNA:NM_020320, UniProtKB:Q5T160 No chr6 88223656 88299735 87513744 87590032 +PA34232 5921 HGNC:9871 ENSG00000145715 RAS p21 protein activator 1 RASA1 RAS p21 protein activator (GTPase activating protein) 1, Ras GTPase-activating protein 1, capillary malformation-arteriovenous malformation, p120 RAS GTPase activating protein CM-AVM, GAP, RASA, p120, p120GAP, p120RASGAP Yes No Comparative Toxicogenomics Database:5921, Ensembl:ENSG00000145715, GenAtlas:RASA1, GeneCard:RASA1, HGNC:HGNC:9871, HumanCyc Gene:HS07276, ModBase:P20936, NCBI Gene:5921, OMIM:139150, OMIM:605462, OMIM:608354, OMIM:608355, RefSeq DNA:NG_011650, RefSeq DNA:NT_006713, RefSeq Protein:NP_002881, RefSeq Protein:NP_072179, RefSeq RNA:NM_002890, RefSeq RNA:NM_022650, UCSC Genome Browser:NM_002890, UniProtKB:P20936 No chr5 86564070 86687743 87267801 87391926 +PA34233 5922 HGNC:9872 ENSG00000155903 RAS p21 protein activator 2 RASA2 Ras GTPase-activating protein 2 GAP1M Yes No Comparative Toxicogenomics Database:5922, Ensembl:ENSG00000155903, GenAtlas:RASA2, GeneCard:RASA2, HGNC:HGNC:9872, HumanCyc Gene:HS08080, ModBase:Q15283, NCBI Gene:5922, OMIM:601589, RefSeq DNA:NT_005612, RefSeq Protein:NP_006497, RefSeq RNA:NM_006506, UCSC Genome Browser:NM_006506, UniProtKB:Q15283 No chr3 141205891 141334186 141487047 141615363 +PA134905447 22821 HGNC:20331 ENSG00000185989 RAS p21 protein activator 3 RASA3 GAP1IP4BP, GAPIII Yes No Comparative Toxicogenomics Database:22821, Ensembl:ENSG00000185989, GeneCard:RASA3, HGNC:HGNC:20331, ModBase:Q14644, NCBI Gene:22821, OMIM:605182, RefSeq DNA:NT_024498, RefSeq Protein:NP_031394, RefSeq RNA:NM_007368, UniProtKB:Q14644 No chr13 114747194 114898095 113977783 114132623 +PA134889495 10156 HGNC:23181 ENSG00000105808 RAS p21 protein activator 4 RASA4 CAPRI, GAPL, KIAA0538 Yes No Comparative Toxicogenomics Database:10156, Ensembl:ENSG00000105808, GeneCard:RASA4, HGNC:HGNC:23181, HumanCyc Gene:HS02811, ModBase:O43374, NCBI Gene:10156, OMIM:607943, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001073346, RefSeq Protein:NP_008920, RefSeq RNA:NM_001079877, RefSeq RNA:NM_006989, UniProtKB:O43374, UniProtKB:Q2NL74 No chr7 102220093 102257205 102579646 102616758 +PA164725296 100271927 HGNC:35202 ENSG00000170667 RAS p21 protein activator 4B RASA4B Yes No Ensembl:ENSG00000170667, GeneCard:RASA4B, HGNC:HGNC:35202, NCBI Gene:100271927, RefSeq Protein:XP_003118646, RefSeq Protein:XP_003118647, RefSeq Protein:XP_003118648, RefSeq RNA:XM_003118598, RefSeq RNA:XM_003118599, RefSeq RNA:XM_003118600 No chr7 102123586 102158224 102483139 102517777 +PA34234 8437 HGNC:9873 ENSG00000111344 RAS protein activator like 1 RASAL1 RAS protein activator like 1 (GAP1 like) RASAL Yes No Comparative Toxicogenomics Database:8437, Ensembl:ENSG00000111344, GenAtlas:RASAL1, GeneCard:RASAL1, HGNC:HGNC:9873, HumanCyc Gene:HS03408, ModBase:O95294, NCBI Gene:8437, OMIM:604118, RefSeq DNA:NT_009775, RefSeq Protein:NP_001180449, RefSeq Protein:NP_001180450, RefSeq Protein:NP_004649, RefSeq RNA:NM_001193520, RefSeq RNA:NM_001193521, RefSeq RNA:NM_004658, UCSC Genome Browser:NM_004658, UniProtKB:O95294 No chr12 113536624 113574044 113096515 113136239 +PA34235 9462 HGNC:9874 ENSG00000075391 RAS protein activator like 2 RASAL2 Ras GTPase activating protein-like, Ras protein activator like 1 nGAP Yes No Comparative Toxicogenomics Database:9462, Ensembl:ENSG00000075391, GenAtlas:RASAL2, GeneCard:RASAL2, HGNC:HGNC:9874, HumanCyc Gene:HS01174, ModBase:Q9UJF2, NCBI Gene:9462, OMIM:606136, RefSeq DNA:NT_004487, RefSeq Protein:NP_004832, RefSeq Protein:NP_733793, RefSeq RNA:NM_004841, RefSeq RNA:NM_170692, UCSC Genome Browser:NM_004841, UniProtKB:A8K2P3, UniProtKB:Q2TB22, UniProtKB:Q9UJF2 No chr1 178062864 178448649 178093729 178479514 +PA164725297 64926 HGNC:26129 ENSG00000105122 RAS protein activator like 3 RASAL3 FLJ21438 Yes No Ensembl:ENSG00000105122, GeneCard:RASAL3, HGNC:HGNC:26129, NCBI Gene:64926, RefSeq DNA:NT_011295, RefSeq Protein:NP_075055, RefSeq RNA:NM_022904, UniProtKB:Q86YV0, UniProtKB:Q9H7J2 No chr19 15562435 15575382 15451624 15464571 +PA34236 51655 HGNC:15828 ENSG00000108551 ras related dexamethasone induced 1 RASD1 """RAS, dexamethasone-induced 1"", ""activator of G protein signaling"", ""dexamethasone-induced ras-related protein 1"", ""ras-related protein""" AGS1, DEXRAS1 Yes No Comparative Toxicogenomics Database:51655, Ensembl:ENSG00000108551, GenAtlas:RASD1, GeneCard:RASD1, HGNC:HGNC:15828, HumanCyc Gene:HS03121, ModBase:Q9Y272, NCBI Gene:51655, OMIM:605550, RefSeq DNA:NT_010718, RefSeq Protein:NP_001186918, RefSeq Protein:NP_057168, RefSeq RNA:NM_001199989, RefSeq RNA:NM_016084, UCSC Genome Browser:NM_016084, UniProtKB:Q9Y272 No chr17 17397751 17399709 17494437 17496395 +PA34237 23551 HGNC:18229 ENSG00000100302 RASD family member 2 RASD2 """RASD family, member 2"", ""Ras homolog enriched in striatum"", ""tumor endothelial marker 2""" MGC:4834, Rhes, TEM2 Yes No Comparative Toxicogenomics Database:23551, Ensembl:ENSG00000100302, GenAtlas:RASD2, GeneCard:RASD2, HGNC:HGNC:18229, HumanCyc Gene:HS02034, ModBase:Q96D21, NCBI Gene:23551, OMIM:612842, RefSeq DNA:NT_011520, RefSeq Protein:NP_055125, RefSeq RNA:NM_014310, UCSC Genome Browser:NM_014310, UniProtKB:Q96D21 No chr22 35936556 35950048 35540492 35554003 +PA134867201 158158 HGNC:26464 ENSG00000165105 RAS and EF-hand domain containing RASEF FLJ31614, RAB45, TSG Yes No Ensembl:ENSG00000165105, GeneCard:RASEF, HGNC:HGNC:26464, HumanCyc Gene:HS09185, ModBase:Q8IZ41, NCBI Gene:158158, OMIM:611344, RefSeq DNA:NT_008470, RefSeq Protein:NP_689786, RefSeq RNA:NM_152573, UniProtKB:Q8IZ41 No chr9 85594500 85678043 82979585 83063177 +PA134884893 221002 HGNC:24246 ENSG00000198915 RasGEF domain family member 1A RASGEF1A RasGEF domain family, member 1A CG4853, FLJ37817 Yes No Ensembl:ENSG00000198915, GeneCard:RASGEF1A, HGNC:HGNC:24246, ModBase:Q8N9B8, NCBI Gene:221002, RefSeq DNA:NT_033985, RefSeq Protein:NP_660356, RefSeq RNA:NM_145313, UniProtKB:Q8N9B8 No chr10 43689983 43762367 43194533 43266919 +PA134927621 153020 HGNC:24881 ENSG00000138670 RasGEF domain family member 1B RASGEF1B RasGEF domain family, member 1B FLJ31695, GPIG4 Yes No Ensembl:ENSG00000138670, GeneCard:RASGEF1B, HGNC:HGNC:24881, HumanCyc Gene:HS06531, ModBase:Q0VAM2, NCBI Gene:153020, RefSeq DNA:NT_016354, RefSeq Protein:NP_689758, RefSeq RNA:NM_152545, UniProtKB:Q0VAM2 No chr4 82347547 82393082 81426393 81471928 +PA134895897 255426 HGNC:27400 ENSG00000146090 RasGEF domain family member 1C RASGEF1C RasGEF domain family, member 1C FLJ35841 Yes No Ensembl:ENSG00000146090, GeneCard:RASGEF1C, HGNC:HGNC:27400, ModBase:Q8N431, NCBI Gene:255426, RefSeq DNA:NT_023133, RefSeq Protein:NP_778232, RefSeq RNA:NM_175062, UniProtKB:Q8N431 No chr5 179527795 179636130 180100795 180209130 +PA34238 5923 HGNC:9875 ENSG00000058335 Ras protein specific guanine nucleotide releasing factor 1 RASGRF1 CDC25 like (S. cerevisiae), Ras protein-specific guanine nucleotide-releasing factor 1 CDC25, CDC25L, GNRP, GRF1, GRF55, H-GRF55, PP13187 Yes No Comparative Toxicogenomics Database:5923, Ensembl:ENSG00000058335, GenAtlas:RASGRF1, GeneCard:RASGRF1, HGNC:HGNC:9875, HumanCyc Gene:HS00721, ModBase:Q13972, NCBI Gene:5923, OMIM:606600, RefSeq DNA:NT_010194, RefSeq Protein:NP_001139120, RefSeq Protein:NP_002882, RefSeq Protein:NP_722522, RefSeq RNA:NM_001145648, RefSeq RNA:NM_002891, RefSeq RNA:NM_153815, UCSC Genome Browser:NM_002891, UniProtKB:A8K270, UniProtKB:Q13972, UniProtKB:Q8IUU5 No chr15 79252289 79383215 78959947 79090873 +PA34239 5924 HGNC:9876 ENSG00000113319 Ras protein specific guanine nucleotide releasing factor 2 RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 GRF2, Ras-GRF2 Yes No Comparative Toxicogenomics Database:5924, Ensembl:ENSG00000113319, GenAtlas:RASGRF2, GeneCard:RASGRF2, HGNC:HGNC:9876, HumanCyc Gene:HS03670, ModBase:O14827, NCBI Gene:5924, OMIM:606614, RefSeq DNA:NT_006713, RefSeq Protein:NP_008840, RefSeq RNA:NM_006909, UniProtKB:O14827 No chr5 80256491 80525981 80960672 81230162 +PA34240 10125 HGNC:9878 ENSG00000172575 RAS guanyl releasing protein 1 RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated), calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II CalDAG-GEFII, RASGRP Yes No Comparative Toxicogenomics Database:10125, Ensembl:ENSG00000172575, GenAtlas:RASGRP1, GeneCard:RASGRP1, HGNC:HGNC:9878, HumanCyc Gene:HS10539, ModBase:Q9UI94, NCBI Gene:10125, OMIM:603962, RefSeq DNA:NG_023268, RefSeq DNA:NT_010194, RefSeq Protein:NP_001122074, RefSeq Protein:NP_005730, RefSeq RNA:NM_001128602, RefSeq RNA:NM_005739, UCSC Genome Browser:NM_005739, UniProtKB:B2RA89, UniProtKB:O95267 No chr15 38780302 38857661 38488097 38564806 +PA34241 10235 HGNC:9879 ENSG00000068831 RAS guanyl releasing protein 2 RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated), calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I CALDAG-GEFI Yes Yes Comparative Toxicogenomics Database:10235, Ensembl:ENSG00000068831, GenAtlas:RASGRP2, GeneCard:RASGRP2, HGNC:HGNC:9879, HumanCyc Gene:HS00946, ModBase:Q7LDG7, NCBI Gene:10235, OMIM:605577, RefSeq DNA:NG_007574, RefSeq DNA:NT_167190, RefSeq Protein:NP_001092140, RefSeq Protein:NP_001092141, RefSeq Protein:NP_722541, RefSeq RNA:NM_001098670, RefSeq RNA:NM_001098671, RefSeq RNA:NM_153819, UCSC Genome Browser:NM_005825, UniProtKB:Q7LDG7 No chr11 64494383 64512928 64726911 64745456 +PA134937092 25780 HGNC:14545 ENSG00000152689 RAS guanyl releasing protein 3 RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated), calcium- and diacylglycerol-regulated guanine nucleotide exchange factor III CalDAG-GEFIII, GRP3, KIAA0846 Yes No Ensembl:ENSG00000152689, GeneCard:RASGRP3, HGNC:HGNC:14545, HumanCyc Gene:HS07848, ModBase:Q8IV61, NCBI Gene:25780, OMIM:609531, RefSeq DNA:NT_022184, RefSeq Protein:NP_001132960, RefSeq Protein:NP_056191, RefSeq Protein:NP_733772, RefSeq RNA:NM_001139488, RefSeq RNA:NM_015376, RefSeq RNA:NM_170672, UniProtKB:Q53SD7, UniProtKB:Q8IV61 No chr2 33661416 33789798 33436348 33564731 +PA38770 115727 HGNC:18958 ENSG00000171777 RAS guanyl releasing protein 4 RASGRP4 Yes No Ensembl:ENSG00000171777, GenAtlas:RASGRP4, GeneCard:RASGRP4, HGNC:HGNC:18958, ModBase:Q8TDF6, NCBI Gene:115727, OMIM:607320, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139674, RefSeq Protein:NP_001139675, RefSeq Protein:NP_001139676, RefSeq Protein:NP_001139677, RefSeq Protein:NP_001139678, RefSeq Protein:NP_001139679, RefSeq Protein:NP_733749, RefSeq RNA:NM_001146202, RefSeq RNA:NM_001146203, RefSeq RNA:NM_001146204, RefSeq RNA:NM_001146205, RefSeq RNA:NM_001146206, RefSeq RNA:NM_001146207, RefSeq RNA:NM_170604, UCSC Genome Browser:NM_052949, UniProtKB:Q8TDF6 No chr19 38899695 38916945 38409055 38426305 +PA134875519 54922 HGNC:24716 ENSG00000105538 Ras interacting protein 1 RASIP1 FLJ20401, RAIN Yes No Comparative Toxicogenomics Database:54922, Ensembl:ENSG00000105538, GeneCard:RASIP1, HGNC:HGNC:24716, HumanCyc Gene:HS12594, ModBase:Q5U651, NCBI Gene:54922, OMIM:609623, RefSeq DNA:NT_011109, RefSeq Protein:NP_060275, RefSeq RNA:NM_017805, UniProtKB:Q5U651, UniProtKB:Q7L251, UniProtKB:Q8IUR2 No chr19 49223842 49244136 48720585 48740833 +PA162400707 10633 HGNC:16954 ENSG00000100276 RAS like family 10 member A RASL10A RAS-like, family 10, member A RRP22 Yes No Ensembl:ENSG00000100276, GeneCard:RASL10A, HGNC:HGNC:16954, HumanCyc Gene:HS02020, ModBase:Q92737, NCBI Gene:10633, OMIM:602220, RefSeq DNA:NT_011520, RefSeq Protein:NP_001007280, RefSeq Protein:NP_006468, RefSeq RNA:NM_001007279, RefSeq RNA:NM_006477, UniProtKB:Q92737 No chr22 29708922 29711745 29312933 29319618 +PA134936888 91608 HGNC:30295 ENSG00000270885 RAS like family 10 member B RASL10B RAS-like, family 10, member B RRP17, VTS58635 Yes No Comparative Toxicogenomics Database:91608, Ensembl:ENSG00000270885, GeneCard:RASL10B, HGNC:HGNC:30295, HumanCyc Gene:HS06804, ModBase:Q96S79, NCBI Gene:91608, OMIM:612128, RefSeq DNA:NT_010799, RefSeq Protein:NP_201572, RefSeq RNA:NM_033315, UniProtKB:B3KV31, UniProtKB:Q96S79 No chr17 34058679 34070540 35731660 35743521 +PA134906253 387496 HGNC:23802 ENSG00000122035 RAS like family 11 member A RASL11A RAS-like, family 11, member A Yes No Comparative Toxicogenomics Database:387496, Ensembl:ENSG00000122035, GeneCard:RASL11A, HGNC:HGNC:23802, ModBase:Q6T310, NCBI Gene:387496, OMIM:612403, RefSeq DNA:NT_024524, RefSeq Protein:NP_996563, RefSeq RNA:NM_206827, UniProtKB:Q6T310 No chr13 27844464 27847828 27270327 27273690 +PA134872992 65997 HGNC:23804 ENSG00000128045 RAS like family 11 member B RASL11B RAS-like, family 11, member B Yes No Comparative Toxicogenomics Database:65997, Ensembl:ENSG00000128045, GeneCard:RASL11B, HGNC:HGNC:23804, HumanCyc Gene:HS05154, ModBase:Q9BPW5, NCBI Gene:65997, OMIM:612404, RefSeq DNA:NT_022853, RefSeq Protein:NP_076429, RefSeq RNA:NM_023940, UniProtKB:Q9BPW5 No chr4 53728495 53733002 52862328 52866835 +PA134920029 51285 HGNC:30289 ENSG00000103710 RAS like family 12 RASL12 """RAS-like, family 12"", ""Ras family member Ris""" RIS Yes No Comparative Toxicogenomics Database:51285, Ensembl:ENSG00000103710, GeneCard:RASL12, HGNC:HGNC:30289, HumanCyc Gene:HS02530, ModBase:Q9NYN1, NCBI Gene:51285, RefSeq DNA:NT_010194, RefSeq Protein:NP_057647, RefSeq RNA:NM_016563, UniProtKB:Q9NYN1 No chr15 65337919 65360707 65045576 65076654 +PA34245 11186 HGNC:9882 ENSG00000068028 Ras association domain family member 1 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 123F2, NORE2A, RDA32, REH3P21 Yes Yes Comparative Toxicogenomics Database:11186, Ensembl:ENSG00000068028, GenAtlas:RASSF1, GeneCard:RASSF1, HGNC:HGNC:9882, HumanCyc Gene:HS00928, ModBase:Q9UND5, NCBI Gene:11186, OMIM:211980, OMIM:605082, RefSeq DNA:NG_023270, RefSeq DNA:NT_022517, RefSeq Protein:NP_001193886, RefSeq Protein:NP_009113, RefSeq Protein:NP_733830, RefSeq Protein:NP_733831, RefSeq Protein:NP_733832, RefSeq RNA:NM_001206957, RefSeq RNA:NM_007182, RefSeq RNA:NM_170712, RefSeq RNA:NM_170713, RefSeq RNA:NM_170714, UCSC Genome Browser:NM_007182, UniProtKB:Q5TZT2, UniProtKB:Q9NS23 No chr3 50367217 50378367 50329786 50340936 +PA162400718 644943 HGNC:33984 ENSG00000189431 Ras association domain family member 10 RASSF10 Ras association (RalGDS/AF-6) domain family (N-terminal) member 10, peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor-like Yes No Ensembl:ENSG00000189431, GeneCard:RASSF10, HGNC:HGNC:33984, NCBI Gene:644943, RefSeq DNA:NT_009237, RefSeq Protein:NP_001073990, RefSeq RNA:NM_001080521 No chr11 13030970 13033653 13009423 13012106 +PA34246 9770 HGNC:9883 ENSG00000101265 Ras association domain family member 2 RASSF2 Ras association (RalGDS/AF-6) domain family member 2, centromere protein 34 CENP-34, KIAA0168 Yes No Comparative Toxicogenomics Database:9770, Ensembl:ENSG00000101265, GenAtlas:RASSF2, GeneCard:RASSF2, HGNC:HGNC:9883, HumanCyc Gene:HS02227, ModBase:P50749, NCBI Gene:9770, OMIM:609492, RefSeq DNA:NT_011387, RefSeq Protein:NP_055552, RefSeq Protein:NP_739580, RefSeq RNA:NM_014737, RefSeq RNA:NM_170774, UCSC Genome Browser:NM_014737, UniProtKB:P50749 No chr20 4760669 4804291 4780023 4823668 +PA34247 283349 HGNC:14271 ENSG00000153179 Ras association domain family member 3 RASSF3 Ras association (RalGDS/AF-6) domain family member 3 Yes No Comparative Toxicogenomics Database:283349, Ensembl:ENSG00000153179, GenAtlas:RASSF3, GeneCard:RASSF3, HGNC:HGNC:14271, ModBase:Q86WH2, NCBI Gene:283349, OMIM:607019, RefSeq DNA:NT_029419, RefSeq Protein:NP_001229620, RefSeq Protein:NP_835463, RefSeq RNA:NM_001242691, RefSeq RNA:NM_178169, UCSC Genome Browser:NM_178169, UniProtKB:Q86WH2 No chr12 65004293 65091347 64610513 64697567 +PA134951366 83937 HGNC:20793 ENSG00000107551 Ras association domain family member 4 RASSF4 Ras association (RalGDS/AF-6) domain family member 4 AD037, MGC44914 Yes No Comparative Toxicogenomics Database:83937, Ensembl:ENSG00000107551, GeneCard:RASSF4, HGNC:HGNC:20793, HumanCyc Gene:HS03004, ModBase:Q9H2L5, NCBI Gene:83937, OMIM:610559, RefSeq DNA:NT_033985, RefSeq Protein:NP_114412, RefSeq RNA:NM_032023, UniProtKB:Q9H2L5 No chr10 45455183 45491337 44959753 44994724 +PA134958571 83593 HGNC:17609 ENSG00000266094 Ras association domain family member 5 RASSF5 Ras association (RalGDS/AF-6) domain family member 5, novel Ras effector 1, regulator for cell adhesion and polarization enriched in lymphoid tissues Maxp1, NORE1, RAPL Yes No Comparative Toxicogenomics Database:83593, Ensembl:ENSG00000266094, GeneCard:RASSF5, HGNC:HGNC:17609, HumanCyc Gene:HS06193, ModBase:Q8WWW0, NCBI Gene:83593, OMIM:607020, RefSeq DNA:NT_167186, RefSeq Protein:NP_872604, RefSeq Protein:NP_872605, RefSeq Protein:NP_872606, RefSeq RNA:NM_182663, RefSeq RNA:NM_182664, RefSeq RNA:NM_182665, UniProtKB:Q8WWW0 No chr1 206680866 206762616 206507530 206589284 +PA134900075 166824 HGNC:20796 ENSG00000169435 Ras association domain family member 6 RASSF6 Ras association (RalGDS/AF-6) domain family member 6 Yes No Comparative Toxicogenomics Database:166824, Ensembl:ENSG00000169435, GeneCard:RASSF6, HGNC:HGNC:20796, ModBase:Q6ZTQ3, NCBI Gene:166824, OMIM:612620, RefSeq DNA:NT_022778, RefSeq Protein:NP_803876, RefSeq Protein:NP_958834, RefSeq RNA:NM_177532, RefSeq RNA:NM_201431, UniProtKB:Q6ZTQ3 No chr4 74437267 74486348 73571550 73620631 +PA25480 8045 HGNC:1166 ENSG00000099849 Ras association domain family member 7 RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 C11orf13, CFAP88, FAP88, HRAS1, HRC1 Yes No Comparative Toxicogenomics Database:8045, Ensembl:ENSG00000099849, GenAtlas:RASSF7, GeneCard:RASSF7, HGNC:HGNC:1166, HumanCyc Gene:HS01919, ModBase:Q02833, NCBI Gene:8045, OMIM:143023, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137465, RefSeq Protein:NP_001137466, RefSeq Protein:NP_003466, RefSeq RNA:NM_001143993, RefSeq RNA:NM_001143994, RefSeq RNA:NM_003475, UCSC Genome Browser:NM_003475, UniProtKB:Q02833, UniProtKB:Q3KP41 No chr11 560309 564025 559776 564025 +PA25502 11228 HGNC:13232 ENSG00000123094 Ras association domain family member 8 RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 C12orf2, HoJ-1 Yes No Comparative Toxicogenomics Database:11228, Ensembl:ENSG00000123094, GenAtlas:RASSF8, GeneCard:RASSF8, HGNC:HGNC:13232, HumanCyc Gene:HS04625, ModBase:Q8NHQ8, NCBI Gene:11228, OMIM:608231, RefSeq DNA:NT_009714, RefSeq Protein:NP_001158218, RefSeq Protein:NP_001158219, RefSeq Protein:NP_001158220, RefSeq Protein:NP_009142, RefSeq RNA:NM_001164746, RefSeq RNA:NM_001164747, RefSeq RNA:NM_001164748, RefSeq RNA:NM_007211, UCSC Genome Browser:NM_007211, UniProtKB:A8K8G8, UniProtKB:Q8NHQ8 No chr12 26111964 26232825 25959031 26079892 +PA162400725 9182 HGNC:15739 ENSG00000198774 Ras association domain family member 9 RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 P-CIP1, PAMCI Yes No Ensembl:ENSG00000198774, GeneCard:RASSF9, HGNC:HGNC:15739, ModBase:O75901, NCBI Gene:9182, OMIM:610383, RefSeq DNA:NT_029419, RefSeq Protein:NP_005438, RefSeq RNA:NM_005447, UniProtKB:O75901 No chr12 86198331 86230318 85800703 85836540 +PA144596390 125950 HGNC:30296 ENSG00000161847 ribonucleoprotein, PTB binding 1 RAVER1 ribonucleoprotein, PTB-binding 1 KIAA1978 Yes No Comparative Toxicogenomics Database:125950, Ensembl:ENSG00000161847, GeneCard:RAVER1, HGNC:HGNC:30296, ModBase:Q8IY67, NCBI Gene:125950, OMIM:609950, RefSeq DNA:NT_011295, RefSeq Protein:NP_597709, RefSeq RNA:NM_133452, UniProtKB:Q8IY67 No chr19 10426888 10444314 10316212 10333638 +PA144596391 55225 HGNC:25577 ENSG00000162437 ribonucleoprotein, PTB binding 2 RAVER2 ribonucleoprotein, PTB-binding 2 FLJ10770, KIAA1579 Yes Yes Ensembl:ENSG00000162437, GeneCard:RAVER2, HGNC:HGNC:25577, NCBI Gene:55225, OMIM:609953, RefSeq DNA:NT_032977, RefSeq Protein:NP_060681, RefSeq RNA:NM_018211, UniProtKB:Q9HCJ3 No chr1 65210778 65298915 64744979 64833232 +PA38626 30062 HGNC:18662 ENSG00000134438 retina and anterior neural fold homeobox RAX retinal homeobox protein Rx RAX1, RX Yes No Comparative Toxicogenomics Database:30062, Ensembl:ENSG00000134438, GenAtlas:RAX, GeneCard:RAX, HGNC:HGNC:18662, HumanCyc Gene:HS05868, ModBase:Q9Y2V3, NCBI Gene:30062, OMIM:601881, OMIM:611038, RefSeq DNA:NG_013031, RefSeq DNA:NT_025028, RefSeq Protein:NP_038463, RefSeq RNA:NM_013435, UCSC Genome Browser:NM_013435, UniProtKB:Q9Y2V3 No chr18 56934267 56940625 59267035 59273393 +PA162400734 84839 HGNC:18286 ENSG00000173976 retina and anterior neural fold homeobox 2 RAX2 ARMD6, CORD11, MGC15631, RAXL1 Yes No Ensembl:ENSG00000173976, GeneCard:RAX2, HGNC:HGNC:18286, HumanCyc Gene:HS10753, ModBase:Q96IS3, NCBI Gene:84839, OMIM:610362, OMIM:610381, RefSeq DNA:NG_011565, RefSeq DNA:NT_011255, RefSeq Protein:NP_116142, RefSeq RNA:NM_032753, UniProtKB:Q96IS3 No chr19 3769087 3772219 3769089 3772221 +PA295 5925 HGNC:9884 ENSG00000139687 RB transcriptional corepressor 1 RB1 """prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"", ""retinoblastoma 1""" OSRC, PPP1R130, RB Yes No Comparative Toxicogenomics Database:5925, Ensembl:ENSG00000139687, GenAtlas:RB1, GeneCard:RB1, HGNC:HGNC:9884, HumanCyc Gene:HS06650, ModBase:P06400, NCBI Gene:5925, OMIM:109800, OMIM:180200, OMIM:259500, RefSeq DNA:NG_009009, RefSeq DNA:NT_024524, RefSeq Protein:NP_000312, RefSeq RNA:NM_000321, UCSC Genome Browser:NM_000321, UniProtKB:P06400 No chr13 48877883 49056026 48303747 48481890 +PA34248 9821 HGNC:15574 ENSG00000023287 RB1 inducible coiled-coil 1 RB1CC1 """200 kDa FAK family kinase-interacting protein"", ""RB1-inducible coiled-coil 1"", ""phosphatase 1, regulatory subunit 131""" ATG17, Cc1, DRAGOU14, FIP200, KIAA0203, PPP1R131 Yes No Comparative Toxicogenomics Database:9821, Ensembl:ENSG00000023287, GenAtlas:RB1CC1, GeneCard:RB1CC1, HGNC:HGNC:15574, HumanCyc Gene:HS12070, ModBase:Q8TDY2, NCBI Gene:9821, OMIM:114480, OMIM:606837, RefSeq DNA:NG_015833, RefSeq DNA:NT_008183, RefSeq Protein:NP_001077086, RefSeq Protein:NP_055596, RefSeq RNA:NM_001083617, RefSeq RNA:NM_014781, UCSC Genome Browser:NM_014781, UniProtKB:Q8TDY2 No chr8 53535018 53627026 52622458 52714466 +PA162400745 57786 HGNC:17680 ENSG00000146587 RB associated KRAB zinc finger RBAK RB-associated KRAB zinc finger ZNF769 Yes No Ensembl:ENSG00000146587, GeneCard:RBAK, HGNC:HGNC:17680, HumanCyc Gene:HS07356, ModBase:Q9NYW8, NCBI Gene:57786, OMIM:608191, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001191385, RefSeq Protein:NP_066986, RefSeq RNA:NM_001204456, RefSeq RNA:NM_021163, UniProtKB:Q9NYW8 No chr7 5085452 5109119 5045821 5069488 +PA34251 5928 HGNC:9887 ENSG00000162521 RB binding protein 4, chromatin remodeling factor RBBP4 retinoblastoma binding protein 4 NURF55, RbAp48, lin-53 Yes No Comparative Toxicogenomics Database:5928, Ensembl:ENSG00000162521, GenAtlas:RBBP4, GeneCard:RBBP4, HGNC:HGNC:9887, HumanCyc Gene:HS08689, ModBase:Q09028, NCBI Gene:5928, OMIM:602923, RefSeq DNA:NT_032977, RefSeq Protein:NP_001128727, RefSeq Protein:NP_001128728, RefSeq Protein:NP_005601, RefSeq RNA:NM_001135255, RefSeq RNA:NM_001135256, RefSeq RNA:NM_005610, UCSC Genome Browser:NM_005610, UniProtKB:B4DRH0, UniProtKB:Q09028 No chr1 33116749 33151812 32651148 32686211 +PA34252 5929 HGNC:9888 ENSG00000117222 RB binding protein 5, histone lysine methyltransferase complex subunit RBBP5 """SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""retinoblastoma binding protein 5""" RBQ3, SWD1 Yes No Comparative Toxicogenomics Database:5929, Ensembl:ENSG00000117222, GenAtlas:RBBP5, GeneCard:RBBP5, HGNC:HGNC:9888, HumanCyc Gene:HS04104, ModBase:Q15291, NCBI Gene:5929, OMIM:600697, RefSeq DNA:NT_004487, RefSeq Protein:NP_001180201, RefSeq Protein:NP_001180202, RefSeq Protein:NP_005048, RefSeq RNA:NM_001193272, RefSeq RNA:NM_001193273, RefSeq RNA:NM_005057, UCSC Genome Browser:NM_005057, UniProtKB:Q15291 No chr1 205055270 205091150 205086142 205122022 +PA34253 5930 HGNC:9889 ENSG00000122257 RB binding protein 6, ubiquitin ligase RBBP6 proliferation potential-related protein, retinoblastoma binding protein 6 P2P-R, PACT, SNAMA Yes No Comparative Toxicogenomics Database:5930, Ensembl:ENSG00000122257, GenAtlas:RBBP6, GeneCard:RBBP6, HGNC:HGNC:9889, HumanCyc Gene:HS04559, ModBase:Q9H3I8, NCBI Gene:5930, OMIM:600938, RefSeq DNA:NT_010393, RefSeq Protein:NP_008841, RefSeq Protein:NP_061173, RefSeq Protein:NP_116015, RefSeq RNA:NM_006910, RefSeq RNA:NM_018703, RefSeq RNA:NM_032626, UCSC Genome Browser:NM_006910, UniProtKB:Q7Z6E9 No chr16 24550866 24584184 24539587 24572863 +PA34254 5931 HGNC:9890 ENSG00000102054 RB binding protein 7, chromatin remodeling factor RBBP7 G1/S transition control protein-binding protein RbAp46, histone acetyltransferase type B subunit 2, retinoblastoma binding protein 7, retinoblastoma-binding protein 7, retinoblastoma-binding protein RbAp46, retinoblastoma-binding protein p46 RbAp46 Yes No Comparative Toxicogenomics Database:5931, Ensembl:ENSG00000102054, GenAtlas:RBBP7, GeneCard:RBBP7, HGNC:HGNC:9890, HumanCyc Gene:HS02342, ModBase:Q16576, NCBI Gene:5931, OMIM:602922, RefSeq DNA:NT_167197, RefSeq Protein:NP_001185648, RefSeq Protein:NP_002884, RefSeq RNA:NM_001198719, RefSeq RNA:NM_002893, UCSC Genome Browser:NM_002893, UniProtKB:Q16576, UniProtKB:Q6FHQ0 No chrX 16862773 16888565 16844650 16870411 +PA34255 5932 HGNC:9891 ENSG00000101773 RB binding protein 8, endonuclease RBBP8 CTBP-interacting protein, retinoblastoma binding protein 8 COM1, CtIP, RIM, SCKL2 Yes No Comparative Toxicogenomics Database:5932, Ensembl:ENSG00000101773, GenAtlas:RBBP8, GeneCard:RBBP8, HGNC:HGNC:9891, HumanCyc Gene:HS02301, ModBase:Q99708, NCBI Gene:5932, OMIM:604124, RefSeq DNA:NG_012121, RefSeq DNA:NT_010966, RefSeq Protein:NP_002885, RefSeq Protein:NP_976036, RefSeq Protein:NP_976037, RefSeq RNA:NM_002894, RefSeq RNA:NM_203291, RefSeq RNA:NM_203292, UCSC Genome Browser:NM_002894, UniProtKB:A6NKN2, UniProtKB:Q99708 No chr18 20513295 20606451 22914121 23026486 +PA25693 140893 HGNC:16144 ENSG00000130701 RBBP8 N-terminal like RBBP8NL hypothetical protein LOC140893 C20orf151, dJ908M14.3 Yes No Ensembl:ENSG00000130701, GenAtlas:C20orf151, GeneCard:C20orf151, HGNC:HGNC:16144, HumanCyc Gene:HS13345, ModBase:Q8NC74, NCBI Gene:140893, RefSeq DNA:NT_011362, RefSeq Protein:NP_543023, RefSeq RNA:NM_080833, UCSC Genome Browser:NM_080833, UniProtKB:Q8NC74 No chr20 60985293 61002629 62410237 62427573 +PA34256 10741 HGNC:9892 ENSG00000089050 RB binding protein 9, serine hydrolase RBBP9 retinoblastoma binding protein 9 Bog Yes No Ensembl:ENSG00000089050, GenAtlas:RBBP9, GeneCard:RBBP9, HGNC:HGNC:9892, HumanCyc Gene:HS01627, ModBase:O75884, NCBI Gene:10741, OMIM:602908, RefSeq DNA:NT_011387, RefSeq Protein:NP_006597, RefSeq RNA:NM_006606, UCSC Genome Browser:NM_006606, UniProtKB:O75884 No chr20 18467184 18477899 18486540 18497250 +PA25723 10616 HGNC:15864 ENSG00000125826 RANBP2-type and C3HC4-type zinc finger containing 1 RBCK1 RanBP-type and C3HC4-type zinc finger containing 1, heme-oxidized IRP2 ubiquitin ligase 1 C20orf18, HOIL1, RBCK2, RNF54, UBCE7IP3, XAP4, ZRANB4 Yes No Comparative Toxicogenomics Database:10616, Ensembl:ENSG00000125826, GenAtlas:RBCK1, GeneCard:RBCK1, HGNC:HGNC:15864, HumanCyc Gene:HS04947, ModBase:Q9BYM8, NCBI Gene:10616, OMIM:610924, RefSeq DNA:NT_011387, RefSeq Protein:NP_006453, RefSeq Protein:NP_112506, RefSeq RNA:NM_006462, RefSeq RNA:NM_031229, UCSC Genome Browser:NM_006462, UniProtKB:Q9BYM8 No chr20 388696 411610 408050 432139 +PA134885774 79863 HGNC:26120 ENSG00000101546 ribosome binding factor A RBFA ribosome binding factor A (putative) C18orf22, FLJ21172, HsT169 Yes No Ensembl:ENSG00000101546, GeneCard:C18orf22, HGNC:HGNC:26120, HumanCyc Gene:HS02288, ModBase:Q8N0V3, NCBI Gene:79863, RefSeq DNA:NT_025028, RefSeq Protein:NP_001165438, RefSeq Protein:NP_079081, RefSeq RNA:NM_001171967, RefSeq RNA:NM_024805, UniProtKB:Q8N0V3 No chr18 77794346 77810652 80034346 80050652 +PA166048951 54715 HGNC:18222 ENSG00000078328 RNA binding fox-1 homolog 1 RBFOX1 """RNA binding protein, fox-1 homolog (C. elegans) 1"", ""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1""" A2BP1, FOX-1, HRNBP1 Yes Yes Ensembl:ENSG00000078328, HGNC:HGNC:18222, NCBI Gene:54715 No chr16 5289469 7763342 5239749 7713343 +PA34272 23543 HGNC:9906 ENSG00000100320 RNA binding fox-1 homolog 2 RBFOX2 """RNA binding protein, fox-1 homolog (C. elegans) 2"", ""hexaribonucleotide binding protein 2""" FOX-2, HNRBP2, HRNBP2, RBM9 Yes No Comparative Toxicogenomics Database:23543, Ensembl:ENSG00000100320, GenAtlas:RBM9, GeneCard:RBM9, HGNC:HGNC:9906, HumanCyc Gene:HS02042, ModBase:Q8WYB1, NCBI Gene:23543, OMIM:612149, RefSeq DNA:NT_011520, RefSeq Protein:NP_001026865, RefSeq Protein:NP_001076045, RefSeq Protein:NP_001076046, RefSeq Protein:NP_001076047, RefSeq Protein:NP_001076048, RefSeq Protein:NP_055124, RefSeq RNA:NM_001031695, RefSeq RNA:NM_001082576, RefSeq RNA:NM_001082577, RefSeq RNA:NM_001082578, RefSeq RNA:NM_001082579, RefSeq RNA:NM_014309, UCSC Genome Browser:NM_014309, UniProtKB:O43251 No chr22 36134783 36424679 35738736 36028892 +PA166048977 146713 HGNC:27097 ENSG00000167281 RNA binding fox-1 homolog 3 RBFOX3 """RNA binding protein, fox-1 homolog (C. elegans) 3"", ""hexaribonucleotide binding protein 3"", ""neuronal nuclei""" FOX-3, HRNBP3, NeuN Yes Yes Ensembl:ENSG00000167281, HGNC:HGNC:27097, NCBI Gene:146713 No chr17 77085427 77512230 79089345 79611101 +PA142672322 401466 HGNC:32235 ENSG00000176731 ribosomal biogenesis factor RBIS chromosome 8 open reading frame 59, ribosome biogenesis factor identified in screen C8orf59 Yes No Ensembl:ENSG00000176731, GeneCard:C8orf59, HGNC:HGNC:32235, NCBI Gene:401466, RefSeq DNA:NT_008183, RefSeq Protein:NP_001093140, RefSeq Protein:NP_001093141, RefSeq Protein:NP_001093142, RefSeq Protein:NP_001093143, RefSeq RNA:NM_001099670, RefSeq RNA:NM_001099671, RefSeq RNA:NM_001099672, RefSeq RNA:NM_001099673, UniProtKB:Q8N0T1 No chr8 86126288 86132643 85214053 85220422 +PA134951602 64080 HGNC:30325 ENSG00000171174 ribokinase RBKS DKFZp686G13268, RBSK Yes No Comparative Toxicogenomics Database:64080, Ensembl:ENSG00000171174, GeneCard:RBKS, HGNC:HGNC:30325, HumanCyc Gene:HS10260, ModBase:Q9H477, NCBI Gene:64080, OMIM:611132, RefSeq DNA:NT_022184, RefSeq Protein:NP_071411, RefSeq RNA:NM_022128, UniProtKB:Q9H477 No chr2 28004266 28113223 27781364 27890396 +PA34257 5933 HGNC:9893 ENSG00000080839 RB transcriptional corepressor like 1 RBL1 retinoblastoma-like 1, retinoblastoma-like 1 (p107) PRB1, cp107, p107 Yes No Comparative Toxicogenomics Database:5933, Ensembl:ENSG00000080839, GenAtlas:RBL1, GeneCard:RBL1, HGNC:HGNC:9893, HumanCyc Gene:HS01373, ModBase:P28749, NCBI Gene:5933, OMIM:116957, RefSeq DNA:NT_011362, RefSeq Protein:NP_002886, RefSeq Protein:NP_899662, RefSeq RNA:NM_002895, RefSeq RNA:NM_183404, UCSC Genome Browser:NM_002895, UniProtKB:P28749 No chr20 35624752 35724403 36996349 37096215 +PA34258 5934 HGNC:9894 ENSG00000103479 RB transcriptional corepressor like 2 RBL2 retinoblastoma-like 2, retinoblastoma-like 2 (p130) Rb2, p130 Yes No Comparative Toxicogenomics Database:5934, Ensembl:ENSG00000103479, GenAtlas:RBL2, GeneCard:RBL2, HGNC:HGNC:9894, HumanCyc Gene:HS02507, ModBase:Q08999, NCBI Gene:5934, OMIM:180203, RefSeq DNA:NT_010498, RefSeq Protein:NP_005602, RefSeq RNA:NM_005611, UCSC Genome Browser:NM_005611, UniProtKB:Q08999, UniProtKB:Q8NE70 No chr16 53468351 53525560 53434420 53491648 +PA34259 8241 HGNC:9896 ENSG00000182872 RNA binding motif protein 10 RBM10 G-patch domain containing 9, zinc finger RANBP2-type containing 5 DXS8237E, GPATC9, GPATCH9, KIAA0122, S1-1, ZRANB5 Yes No Comparative Toxicogenomics Database:8241, Ensembl:ENSG00000182872, GenAtlas:RBM10, GeneCard:RBM10, HGNC:HGNC:9896, ModBase:P98175, NCBI Gene:8241, OMIM:300080, OMIM:311900, RefSeq DNA:NG_012548, RefSeq DNA:NT_079573, RefSeq Protein:NP_001191395, RefSeq Protein:NP_001191396, RefSeq Protein:NP_001191397, RefSeq Protein:NP_005667, RefSeq Protein:NP_690595, RefSeq RNA:NM_001204466, RefSeq RNA:NM_001204467, RefSeq RNA:NM_001204468, RefSeq RNA:NM_005676, RefSeq RNA:NM_152856, UCSC Genome Browser:NM_005676, UniProtKB:P98175 No chrX 47004617 47046214 47145196 47186815 +PA34260 54033 HGNC:9897 ENSG00000185272 RNA binding motif protein 11 RBM11 Yes No Ensembl:ENSG00000185272, GenAtlas:RBM11, GeneCard:RBM11, HGNC:HGNC:9897, ModBase:P57052, NCBI Gene:54033, RefSeq DNA:NT_011512, RefSeq Protein:NP_658983, RefSeq RNA:NM_144770, UCSC Genome Browser:NM_144770, UniProtKB:P57052 No chr21 15588466 15600693 14216107 14228372 +PA34261 10137 HGNC:9898 ENSG00000244462 RNA binding motif protein 12 RBM12 HRIHFB2091, KIAA0765, SWAN Yes No Comparative Toxicogenomics Database:10137, Ensembl:ENSG00000244462, GenAtlas:RBM12, GeneCard:RBM12, HGNC:HGNC:9898, ModBase:Q9NTZ6, NCBI Gene:10137, OMIM:607179, RefSeq DNA:NT_011362, RefSeq Protein:NP_001185767, RefSeq Protein:NP_001185769, RefSeq Protein:NP_006038, RefSeq Protein:NP_690051, RefSeq RNA:NM_001198838, RefSeq RNA:NM_001198840, RefSeq RNA:NM_006047, RefSeq RNA:NM_152838, UCSC Genome Browser:NM_006047, UniProtKB:Q9NTZ6 No chr20 34236847 34252878 35648925 35664956 +PA142671098 389677 HGNC:32310 ENSG00000183808 RNA binding motif protein 12B RBM12B Yes No Ensembl:ENSG00000183808, GeneCard:RBM12B, HGNC:HGNC:32310, ModBase:Q8IXT5, NCBI Gene:389677, RefSeq DNA:NT_008046, RefSeq Protein:NP_976324, RefSeq RNA:NM_203390, UniProtKB:Q8IXT5 No chr8 94742798 94753268 93725161 93741012 +PA142672358 55472 HGNC:28818 ENSG00000279331 RBM12B antisense RNA 1 RBM12B-AS1 PRO1905 Yes No Comparative Toxicogenomics Database:55472, Ensembl:ENSG00000279331, GeneCard:C8orf39, HGNC:HGNC:28818, NCBI Gene:55472, RefSeq DNA:NT_008046, RefSeq RNA:NR_027259 No chr8 94752339 94753047 93740111 93740819 +PA34263 10432 HGNC:14219 ENSG00000239306 RNA binding motif protein 14 RBM14 SYT interacting protein, coactivator activator COAA, DKFZp779J0927, SIP, SYTIP1 Yes No Comparative Toxicogenomics Database:10432, Ensembl:ENSG00000239306, GenAtlas:RBM14, GeneCard:RBM14, HGNC:HGNC:14219, ModBase:Q96PK6, NCBI Gene:10432, OMIM:612409, RefSeq DNA:NT_167190, RefSeq Protein:NP_001185765, RefSeq Protein:NP_001185766, RefSeq Protein:NP_006319, RefSeq RNA:NM_001198836, RefSeq RNA:NM_001198837, RefSeq RNA:NM_006328, UCSC Genome Browser:NM_006328, UniProtKB:Q96PK6 No chr11 66384053 66397405 66616582 66629934 +PA34264 64783 HGNC:14959 ENSG00000162775 RNA binding motif protein 15 RBM15 one twenty-two OTT, OTT1 Yes No Ensembl:ENSG00000162775, GenAtlas:RBM15, GeneCard:RBM15, HGNC:HGNC:14959, HumanCyc Gene:HS08740, ModBase:Q96T38, NCBI Gene:64783, OMIM:606077, RefSeq DNA:NT_032977, RefSeq Protein:NP_001188474, RefSeq Protein:NP_073605, RefSeq RNA:NM_001201545, RefSeq RNA:NM_022768, UCSC Genome Browser:NM_022768, UniProtKB:Q86VW9, UniProtKB:Q96T37 No chr1 110881945 110889303 110338426 110373005 +PA134870079 29890 HGNC:24303 ENSG00000259956 RNA binding motif protein 15B RBM15B HUMAGCGB, OTT3 Yes No Comparative Toxicogenomics Database:29890, Ensembl:ENSG00000259956, GeneCard:RBM15B, HGNC:HGNC:24303, HumanCyc Gene:HS17363, ModBase:Q8NDT2, NCBI Gene:29890, OMIM:612602, RefSeq DNA:NT_022517, RefSeq Protein:NP_037418, RefSeq RNA:NM_013286, UniProtKB:Q8NDT2 No chr3 51428699 51435339 51391268 51397908 +PA134860993 84991 HGNC:16944 ENSG00000134453 RNA binding motif protein 17 RBM17 splicing factor 45kDa MGC14439, SPF45 Yes No Comparative Toxicogenomics Database:84991, Ensembl:ENSG00000134453, GeneCard:RBM17, HGNC:HGNC:16944, HumanCyc Gene:HS05872, ModBase:Q96I25, NCBI Gene:84991, OMIM:606935, RefSeq DNA:NT_008705, RefSeq Protein:NP_001139019, RefSeq Protein:NP_116294, RefSeq RNA:NM_001145547, RefSeq RNA:NM_032905, UniProtKB:Q5W009, UniProtKB:Q96I25 No chr10 6130949 6159422 6088986 6117459 +PA134928031 92400 HGNC:28413 ENSG00000119446 RNA binding motif protein 18 RBM18 MGC2734 Yes No Comparative Toxicogenomics Database:92400, Ensembl:ENSG00000119446, GeneCard:RBM18, HGNC:HGNC:28413, HumanCyc Gene:HS04299, ModBase:Q96H35, NCBI Gene:92400, RefSeq DNA:NT_008470, RefSeq Protein:NP_149108, RefSeq RNA:NM_033117, RefSeq RNA:NR_027125, RefSeq RNA:NR_027126, UniProtKB:Q96H35 No chr9 125001834 125027143 122239555 122264864 +PA134886784 9904 HGNC:29098 ENSG00000122965 RNA binding motif protein 19 RBM19 DKFZp586F1023, KIAA0682, Mrd1 Yes No Comparative Toxicogenomics Database:9904, Ensembl:ENSG00000122965, GeneCard:RBM19, HGNC:HGNC:29098, HumanCyc Gene:HS04617, ModBase:Q9Y4C8, NCBI Gene:9904, RefSeq DNA:NT_009775, RefSeq Protein:NP_001140170, RefSeq Protein:NP_001140171, RefSeq Protein:NP_057280, RefSeq RNA:NM_001146698, RefSeq RNA:NM_001146699, RefSeq RNA:NM_016196, UniProtKB:A8K5X9, UniProtKB:Q9Y4C8 No chr12 114254543 114404176 113816738 113966371 +PA134934622 282996 HGNC:27424 ENSG00000203867 RNA binding motif protein 20 RBM20 Yes No Ensembl:ENSG00000203867, GeneCard:RBM20, HGNC:HGNC:27424, NCBI Gene:282996, OMIM:613171, OMIM:613172, RefSeq DNA:NG_021177, RefSeq DNA:NT_030059, RefSeq Protein:NP_001127835, RefSeq RNA:NM_001134363, UniProtKB:B5A868 No chr10 112404155 112599227 110641934 110839471 +PA134982384 55696 HGNC:25503 ENSG00000086589 RNA binding motif protein 22 RBM22 functional spliceosome-associated protein 47 Cwc2, FLJ10290, ZC3H16, fSAP47 Yes No Comparative Toxicogenomics Database:55696, Ensembl:ENSG00000086589, GeneCard:RBM22, HGNC:HGNC:25503, HumanCyc Gene:HS01536, ModBase:Q9NW64, NCBI Gene:55696, OMIM:612430, RefSeq DNA:NT_029289, RefSeq Protein:NP_060517, RefSeq RNA:NM_018047, UniProtKB:Q9NW64 No chr5 150070352 150080669 150690790 150701107 +PA134892656 400645 HGNC:31466 ENSG00000265097 RNA binding motif protein 22 pseudogene 1 RBM22P1 Yes No Ensembl:ENSG00000265097, GeneCard:RBM22P1, HGNC:HGNC:31466, NCBI Gene:400645, RefSeq DNA:NG_011577 No chr18 24998848 25000400 27418884 27420436 +PA134974852 55147 HGNC:20155 ENSG00000100461 RNA binding motif protein 23 RBM23 coactivator of activating protein-1 and estrogen recep- tors beta, coactivator of activating protein-1 and estrogen receptors beta CAPERbeta, FLJ10482, RNPC4 Yes No Ensembl:ENSG00000100461, GeneCard:RBM23, HGNC:HGNC:20155, HumanCyc Gene:HS02091, ModBase:Q86U06, NCBI Gene:55147, RefSeq DNA:NT_026437, RefSeq Protein:NP_001070819, RefSeq Protein:NP_001070820, RefSeq Protein:NP_060577, RefSeq RNA:NM_001077351, RefSeq RNA:NM_001077352, RefSeq RNA:NM_018107, UniProtKB:Q86U06 No chr14 23369854 23388396 22900645 22919187 +PA134964569 221662 HGNC:21539 ENSG00000112183 RNA binding motif protein 24 RBM24 FLJ30829, RNPC6, dJ259A10.1 Yes No Comparative Toxicogenomics Database:221662, Ensembl:ENSG00000112183, GeneCard:RBM24, HGNC:HGNC:21539, HumanCyc Gene:HS03529, ModBase:Q9BX46, NCBI Gene:221662, RefSeq DNA:NT_007592, RefSeq Protein:NP_001137413, RefSeq Protein:NP_001137414, RefSeq Protein:NP_694565, RefSeq RNA:NM_001143941, RefSeq RNA:NM_001143942, RefSeq RNA:NM_153020, UniProtKB:A8KAI7, UniProtKB:Q9BX46 No chr6 17281739 17294102 17281508 17293875 +PA134912024 58517 HGNC:23244 ENSG00000119707 RNA binding motif protein 25 RBM25 functional spliceosome-associated protein 94 NET52, RNPC7, S164, Snu71, fSAP94 Yes No Comparative Toxicogenomics Database:58517, Ensembl:ENSG00000119707, GeneCard:RBM25, HGNC:HGNC:23244, ModBase:Q9UEQ5, NCBI Gene:58517, OMIM:612427, RefSeq DNA:NT_026437, RefSeq Protein:NP_067062, RefSeq RNA:NM_021239, UniProtKB:P49756 No chr14 73525221 73588749 73058436 73121675 +PA134982324 64062 HGNC:20327 ENSG00000139746 RNA binding motif protein 26 RBM26 """acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132""" ARRS2, C13orf10, FLJ20957, PPP1R132, PRO1777, SE70-2, ZC3H17 Yes No Ensembl:ENSG00000139746, GeneCard:RBM26, HGNC:HGNC:20327, HumanCyc Gene:HS06656, ModBase:Q5W0G7, NCBI Gene:64062, RefSeq DNA:NT_024524, RefSeq Protein:NP_071401, RefSeq RNA:NM_022118, UniProtKB:Q5T8P6 No chr13 79885962 79980393 79311827 79406265 +PA134925458 54439 HGNC:29243 ENSG00000091009 RNA binding motif protein 27 RBM27 acidic rich RS domain containing 1 ARRS1, KIAA1311, Psc1, ZC3H18, ZC3H20 Yes No Ensembl:ENSG00000091009, GeneCard:RBM27, HGNC:HGNC:29243, ModBase:Q9P2N5, NCBI Gene:54439, RefSeq DNA:NT_029289, RefSeq Protein:NP_061862, RefSeq RNA:NM_018989, UniProtKB:Q9P2N5 No chr5 145583113 145668786 146203550 146289223 +PA134867266 55131 HGNC:21863 ENSG00000106344 RNA binding motif protein 28 RBM28 FLJ10377, NOP4 Yes No Comparative Toxicogenomics Database:55131, Ensembl:ENSG00000106344, GeneCard:RBM28, HGNC:HGNC:21863, HumanCyc Gene:HS02894, ModBase:Q9NW13, NCBI Gene:55131, OMIM:612074, OMIM:612079, RefSeq DNA:NG_015802, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001159607, RefSeq Protein:NP_060547, RefSeq RNA:NM_001166135, RefSeq RNA:NM_018077, UniProtKB:B4DU52, UniProtKB:Q9NW13 No chr7 127950429 127983962 128304120 128343915 +PA34265 5935 HGNC:9900 ENSG00000102317 RNA binding motif protein 3 RBM3 RNA binding motif (RNP1, RRM) protein 3 IS1-RNPL Yes No Comparative Toxicogenomics Database:5935, Ensembl:ENSG00000102317, GenAtlas:RBM3, GeneCard:RBM3, HGNC:HGNC:9900, HumanCyc Gene:HS02382, ModBase:P98179, NCBI Gene:5935, OMIM:300027, RefSeq DNA:NT_079573, RefSeq Protein:NP_006734, RefSeq RNA:NM_006743, UCSC Genome Browser:NM_006743, UniProtKB:P98179 No chrX 48432741 48439553 48574353 48581165 +PA142671093 155435 HGNC:27223 ENSG00000184863 RNA binding motif protein 33 RBM33 DKFZp434D1319, DKFZp686F102, MGC20460, PRR8 Yes No Ensembl:ENSG00000184863, GeneCard:RBM33, HGNC:HGNC:27223, ModBase:Q96EV2, NCBI Gene:155435, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_444271, RefSeq RNA:NM_053043, UniProtKB:Q96EV2 No chr7 155437188 155574179 155644494 155781485 +PA142671094 23029 HGNC:28965 ENSG00000188739 RNA binding motif protein 34 RBM34 KIAA0117 Yes No Ensembl:ENSG00000188739, GeneCard:RBM34, HGNC:HGNC:28965, ModBase:P42696, NCBI Gene:23029, RefSeq DNA:NT_167186, RefSeq Protein:NP_001155005, RefSeq Protein:NP_055829, RefSeq RNA:NM_001161533, RefSeq RNA:NM_015014, RefSeq RNA:NR_027762, UniProtKB:P42696 No chr1 235294498 235324571 235131183 235161616 +PA34449 55544 HGNC:15818 ENSG00000132819 RNA binding motif protein 38 RBM38 HSRNASEB, RNPC1, SEB4D, dJ800J21.2, seb4B Yes No Comparative Toxicogenomics Database:55544, Ensembl:ENSG00000132819, GenAtlas:RBM38, GeneCard:RBM38, HGNC:HGNC:15818, HumanCyc Gene:HS05692, ModBase:Q9H0Z9, NCBI Gene:55544, OMIM:612428, RefSeq DNA:NT_011362, RefSeq Protein:NP_059965, RefSeq Protein:NP_906270, RefSeq RNA:NM_017495, RefSeq RNA:NM_183425, UCSC Genome Browser:NM_017495, UniProtKB:Q9H0Z9 No chr20 55966454 55984389 57391398 57409333 +PA34450 9584 HGNC:15923 ENSG00000131051 RNA binding motif protein 39 RBM39 coactivator of activating protein-1 and estrogen receptors, functional spliceosome-associated protein 59 CAPER, CAPERalpha, CC1.3, HCC1, RNPC2, fSAP59 Yes No Ensembl:ENSG00000131051, GenAtlas:RBM39, GeneCard:RBM39, HGNC:HGNC:15923, HumanCyc Gene:HS05479, ModBase:Q14498, NCBI Gene:9584, OMIM:604739, RefSeq DNA:NT_011362, RefSeq Protein:NP_001229528, RefSeq Protein:NP_001229529, RefSeq Protein:NP_001229530, RefSeq Protein:NP_001229531, RefSeq Protein:NP_001229532, RefSeq Protein:NP_004893, RefSeq Protein:NP_909122, RefSeq RNA:NM_001242599, RefSeq RNA:NM_001242600, RefSeq RNA:NM_001242601, RefSeq RNA:NM_001242602, RefSeq RNA:NM_001242603, RefSeq RNA:NM_004902, RefSeq RNA:NM_184234, UCSC Genome Browser:NM_004902, UniProtKB:Q14498 No chr20 34291531 34330258 35703609 35742336 +PA34266 5936 HGNC:9901 ENSG00000173933 RNA binding motif protein 4 RBM4 LARK, RBM4A, ZCCHC21, ZCRB3A Yes No Comparative Toxicogenomics Database:5936, Ensembl:ENSG00000173933, GenAtlas:RBM4, GeneCard:RBM4, HGNC:HGNC:9901, HumanCyc Gene:HS10751, ModBase:Q9BWF3, NCBI Gene:5936, OMIM:602571, RefSeq DNA:NT_167190, RefSeq Protein:NP_001185772, RefSeq Protein:NP_001185773, RefSeq Protein:NP_002887, RefSeq RNA:NM_001198843, RefSeq RNA:NM_001198844, RefSeq RNA:NM_002896, UCSC Genome Browser:NM_002896, UniProtKB:Q9BWF3 No chr11 66406088 66435856 66638617 66668385 +PA145148155 55285 HGNC:25617 ENSG00000089682 RNA binding motif protein 41 RBM41 FLJ11016 Yes No Comparative Toxicogenomics Database:55285, Ensembl:ENSG00000089682, GeneCard:RBM41, HGNC:HGNC:25617, HumanCyc Gene:HS01660, ModBase:Q96IZ5, NCBI Gene:55285, RefSeq DNA:NG_016385, RefSeq DNA:NT_011651, RefSeq Protein:NP_001164551, RefSeq Protein:NP_060771, RefSeq RNA:NM_001171080, RefSeq RNA:NM_018301, UniProtKB:Q96IZ5 No chrX 106305115 106362057 107061885 107118827 +PA162400760 79171 HGNC:28117 ENSG00000126254 RNA binding motif protein 42 RBM42 MGC10433 Yes No Ensembl:ENSG00000126254, GeneCard:RBM42, HGNC:HGNC:28117, HumanCyc Gene:HS05005, ModBase:Q9BTD8, NCBI Gene:79171, OMIM:613232, RefSeq DNA:NT_011109, RefSeq Protein:NP_077297, RefSeq RNA:NM_024321, UniProtKB:Q9BTD8 No chr19 36119980 36128587 35629016 35637686 +PA162400761 375287 HGNC:24790 ENSG00000184898 RNA binding motif protein 43 RBM43 C2orf38, FLJ45645 Yes No Ensembl:ENSG00000184898, GeneCard:RBM43, HGNC:HGNC:24790, ModBase:Q6ZSC3, NCBI Gene:375287, RefSeq DNA:NT_005403, RefSeq Protein:NP_940959, RefSeq RNA:NM_198557, UniProtKB:Q6ZSC3 No chr2 152104728 152118389 151247689 151261875 +PA162400774 375316 HGNC:24756 ENSG00000177483 RNA binding motif protein 44 RBM44 FLJ40411 Yes No Ensembl:ENSG00000177483, GeneCard:RBM44, HGNC:HGNC:24756, ModBase:Q6ZP01, NCBI Gene:375316, RefSeq DNA:NT_005120, RefSeq Protein:NP_001073973, RefSeq RNA:NM_001080504, UniProtKB:Q6ZP01, UniProtKB:Q8N7S3 No chr2 238707032 238751451 237798048 237842808 +PA162400809 129831 HGNC:24468 ENSG00000155636 RNA binding motif protein 45 RBM45 developmentally regulated RNA binding protein 1 DRB1, FLJ44612 Yes No Ensembl:ENSG00000155636, GeneCard:RBM45, HGNC:HGNC:24468, HumanCyc Gene:HS08060, ModBase:Q8IUH3, NCBI Gene:129831, OMIM:608888, RefSeq DNA:NT_005403, RefSeq Protein:NP_694453, RefSeq RNA:NM_152945, UniProtKB:Q8IUH3 No chr2 178977149 178994383 178112409 178129656 +PA162400810 166863 HGNC:28401 ENSG00000151962 RNA binding motif protein 46 RBM46 cancer/testis antigen 68 CT68, MGC27016 Yes No Ensembl:ENSG00000151962, GeneCard:RBM46, HGNC:HGNC:28401, HumanCyc Gene:HS07783, ModBase:Q8TBY0, NCBI Gene:166863, RefSeq DNA:NT_016354, RefSeq Protein:NP_659416, RefSeq RNA:NM_144979, UniProtKB:B3KWU8, UniProtKB:Q8TBY0 No chr4 155702424 155749965 154781250 154828813 +PA162400825 54502 HGNC:30358 ENSG00000163694 RNA binding motif protein 47 RBM47 FLJ20273, NET18 Yes No Ensembl:ENSG00000163694, GeneCard:RBM47, HGNC:HGNC:30358, HumanCyc Gene:HS08915, ModBase:A0AV96, NCBI Gene:54502, RefSeq DNA:NT_006238, RefSeq Protein:NP_001092104, RefSeq Protein:NP_061900, RefSeq RNA:NM_001098634, RefSeq RNA:NM_019027, UniProtKB:A0AV96 No chr4 40425272 40632958 40423255 40630911 +PA164717383 84060 HGNC:21785 ENSG00000127993 RNA binding motif protein 48 RBM48 C7orf64, DKFZp564O0523, HSPC304 Yes No Ensembl:ENSG00000127993, GeneCard:C7orf64, HGNC:HGNC:21785, HumanCyc Gene:HS13248, ModBase:Q5RL73, NCBI Gene:84060, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_115496, RefSeq RNA:NM_032120, UniProtKB:Q5RL73 No chr7 92158079 92167319 92528709 92540481 +PA134977404 83759 HGNC:28842 ENSG00000173914 RNA binding motif protein 4B RBM4B MGC10871, RBM30, RBM4L, ZCCHC15, ZCCHC21B, ZCRB3B Yes No Ensembl:ENSG00000173914, GeneCard:RBM4B, HGNC:HGNC:28842, HumanCyc Gene:HS10748, ModBase:Q9BQ04, NCBI Gene:83759, RefSeq DNA:NT_167190, RefSeq Protein:NP_113680, RefSeq RNA:NM_031492, UniProtKB:Q9BQ04 No chr11 66432469 66445348 66664994 66677921 +PA34267 10181 HGNC:9902 ENSG00000003756 RNA binding motif protein 5 RBM5 H37, LUCA-15, LUCA15 Yes No Comparative Toxicogenomics Database:10181, Ensembl:ENSG00000003756, GenAtlas:RBM5, GeneCard:RBM5, HGNC:HGNC:9902, HumanCyc Gene:HS00096, ModBase:P52756, NCBI Gene:10181, OMIM:606884, RefSeq DNA:NT_022517, RefSeq Protein:NP_005769, RefSeq RNA:NM_005778, RefSeq RNA:NR_036627, UCSC Genome Browser:NM_005778, UniProtKB:P52756 No chr3 50126341 50156397 50088908 50118964 +PA34268 10180 HGNC:9903 ENSG00000004534 RNA binding motif protein 6 RBM6 3G2, DEF-3, DEF3, NY-LU-12, g16 Yes No Comparative Toxicogenomics Database:10180, Ensembl:ENSG00000004534, GenAtlas:RBM6, GeneCard:RBM6, HGNC:HGNC:9903, HumanCyc Gene:HS00107, ModBase:P78332, NCBI Gene:10180, OMIM:606886, RefSeq DNA:NT_022517, RefSeq Protein:NP_001161054, RefSeq Protein:NP_005768, RefSeq RNA:NM_001167582, RefSeq RNA:NM_005777, UCSC Genome Browser:NM_005777, UniProtKB:A8K6Q4, UniProtKB:P78332, UniProtKB:Q86SS3 No chr3 49977474 50114685 49940038 50077252 +PA34269 10179 HGNC:9904 ENSG00000076053 RNA binding motif protein 7 RBM7 Yes No Comparative Toxicogenomics Database:10179, Ensembl:ENSG00000076053, GenAtlas:RBM7, GeneCard:RBM7, HGNC:HGNC:9904, HumanCyc Gene:HS01198, ModBase:Q9Y580, NCBI Gene:10179, OMIM:612413, RefSeq DNA:NT_033899, RefSeq Protein:NP_057174, RefSeq RNA:NM_016090, UCSC Genome Browser:NM_016090, UniProtKB:Q9Y580 No chr11 114271283 114279636 114400529 114410610 +PA34270 9939 HGNC:9905 ENSG00000265241 RNA binding motif protein 8A RBM8A binder of OVCA1, exon junction complex core component Y14 BOV-1A, BOV-1B, BOV-1C, RBM8, RBM8B, Y14, ZNRP Yes No Comparative Toxicogenomics Database:9939, Ensembl:ENSG00000265241, GenAtlas:RBM8A, GeneCard:RBM8A, HGNC:HGNC:9905, HumanCyc Gene:HS05571, ModBase:Q9Y5S9, NCBI Gene:9939, OMIM:605313, RefSeq DNA:NT_167185, RefSeq Protein:NP_005096, RefSeq RNA:NM_005105, UCSC Genome Browser:NM_005105, UniProtKB:Q9Y5S9 No chr1 145507557 145513536 145921556 145927536 +PA34271 112846 HGNC:13426 ENSG00000258427 RNA binding motif protein 8B pseudogene RBM8B Yes No Ensembl:ENSG00000258427, GenAtlas:RBM8B, GeneCard:RBM8B, HGNC:HGNC:13426, NCBI Gene:112846, RefSeq DNA:NG_002415, RefSeq DNA:NT_026437 No chr14 60864417 60867232 60397699 60400514 +PA34273 5937 HGNC:9907 ENSG00000153250 RNA binding motif single stranded interacting protein 1 RBMS1 """RNA binding motif, single stranded interacting protein 1"", ""c-myc gene single strand binding protein 2"", ""suppressor of cdc 2 (cdc13) with RNA binding motif 2""" C2orf12, DKFZp564H0764, HCC-4, MSSP-1, MSSP-2, MSSP-3, SCR2, YC1 Yes No Comparative Toxicogenomics Database:5937, Ensembl:ENSG00000153250, GenAtlas:RBMS1, GeneCard:RBMS1, HGNC:HGNC:9907, HumanCyc Gene:HS07897, ModBase:P29558, NCBI Gene:5937, OMIM:602310, RefSeq DNA:NT_005403, RefSeq Protein:NP_002888, RefSeq Protein:NP_058520, RefSeq RNA:NM_002897, RefSeq RNA:NM_016836, UCSC Genome Browser:NM_002897, UniProtKB:P29558 No chr2 161128662 161350366 160272151 160493856 +PA34274 5938 HGNC:9908 ENSG00000225422 RNA binding motif, single stranded interacting protein 1 pseudogene 1 RBMS1P1 MSSP1 Yes No Comparative Toxicogenomics Database:5938, Ensembl:ENSG00000225422, GenAtlas:RBMS1P, GeneCard:RBMS1P1, HGNC:HGNC:9908, NCBI Gene:5938, RefSeq DNA:NG_000866, RefSeq DNA:NT_029419 No chr12 66626796 66629006 66233016 66235226 +PA34275 5939 HGNC:9909 ENSG00000076067 RNA binding motif single stranded interacting protein 2 RBMS2 RNA binding motif, single stranded interacting protein 2 SCR3 Yes No Ensembl:ENSG00000076067, GenAtlas:RBMS2, GeneCard:RBMS2, HGNC:HGNC:9909, HumanCyc Gene:HS01200, ModBase:Q15434, NCBI Gene:5939, OMIM:602387, RefSeq DNA:NT_029419, RefSeq Protein:NP_002889, RefSeq RNA:NM_002898, UCSC Genome Browser:NM_002898, UniProtKB:Q15434 No chr12 56915607 56994859 56521812 56596196 +PA34276 27303 HGNC:13427 ENSG00000144642 RNA binding motif single stranded interacting protein 3 RBMS3 """RNA binding motif, single stranded interacting protein 3"", ""RNA-binding protein""" Yes Yes Comparative Toxicogenomics Database:27303, Ensembl:ENSG00000144642, GenAtlas:RBMS3, GeneCard:RBMS3, HGNC:HGNC:13427, HumanCyc Gene:HS07185, ModBase:Q6XE24, NCBI Gene:27303, OMIM:605786, RefSeq DNA:NT_022517, RefSeq Protein:NP_001003792, RefSeq Protein:NP_001003793, RefSeq Protein:NP_001171182, RefSeq Protein:NP_001171183, RefSeq Protein:NP_055298, RefSeq RNA:NM_001003792, RefSeq RNA:NM_001003793, RefSeq RNA:NM_001177711, RefSeq RNA:NM_001177712, RefSeq RNA:NM_014483, UCSC Genome Browser:NM_014483, UniProtKB:A8K9S4, UniProtKB:Q6XE24 No chr3 29322351 30051886 29280860 30010395 +PA34277 27316 HGNC:9910 ENSG00000147274 RNA binding motif protein X-linked RBMX """RNA binding motif protein, X-linked"", ""heterogeneous nuclear ribonucleoprotein G""" HNRNPG, RNMX, hnRNP-G Yes No Comparative Toxicogenomics Database:27316, Ensembl:ENSG00000147274, GenAtlas:RBMX, GeneCard:RBMX, HGNC:HGNC:9910, HumanCyc Gene:HS07415, ModBase:P38159, NCBI Gene:27316, OMIM:300199, RefSeq DNA:NG_012918, RefSeq DNA:NT_011786, RefSeq Protein:NP_001158275, RefSeq Protein:NP_002130, RefSeq RNA:NM_001164803, RefSeq RNA:NM_002139, RefSeq RNA:NR_028476, RefSeq RNA:NR_028477, UCSC Genome Browser:NM_002139, UniProtKB:B4E3U4, UniProtKB:P38159 No chrX 135951353 135962939 136869194 136880780 +PA134872051 51634 HGNC:24282 ENSG00000134597 RNA binding motif protein X-linked 2 RBMX2 RNA binding motif protein, X-linked 2 CGI-79, Snu17 Yes No Ensembl:ENSG00000134597, GeneCard:RBMX2, HGNC:HGNC:24282, HumanCyc Gene:HS05893, ModBase:Q9Y388, NCBI Gene:51634, RefSeq DNA:NT_011786, RefSeq Protein:NP_057108, RefSeq RNA:NM_016024, UniProtKB:Q05DU0, UniProtKB:Q9Y388 No chrX 129535943 129547317 130401969 130413343 +PA165752300 494115 HGNC:25073 ENSG00000213516 RBMX like 1 RBMXL1 """RNA binding motif protein, X-linked-like 1"", ""kynurenine aminotransferase III""" KAT3 Yes No Ensembl:ENSG00000213516, GeneCard:RBMXL1, HGNC:HGNC:25073, NCBI Gene:494115, RefSeq Protein:NP_001156008, RefSeq Protein:NP_062556, RefSeq RNA:NM_001162536, RefSeq RNA:NM_019610, UniProtKB:Q96E39 No chr1 89445139 89458643 88979456 88992960 +PA162400840 27288 HGNC:17886 ENSG00000170748 RBMX like 2 RBMXL2 """RNA binding motif protein, X-linked-like 2"", ""heterogeneous nuclear ribonucleoprotein G T""" HNRNPG-T, HNRPGT Yes No Ensembl:ENSG00000170748, GeneCard:RBMXL2, HGNC:HGNC:17886, HumanCyc Gene:HS10174, ModBase:O75526, NCBI Gene:27288, OMIM:605444, RefSeq DNA:NT_009237, RefSeq Protein:NP_055284, RefSeq RNA:NM_014469, UniProtKB:O75526 No chr11 7110165 7112379 7088934 7091148 +PA164725338 139804 HGNC:26859 ENSG00000175718 RBMX like 3 RBMXL3 RNA binding motif protein, X-linked-like 3 CXorf55, FLJ40249 Yes No Ensembl:ENSG00000175718, GeneCard:RBMXL3, HGNC:HGNC:26859, HumanCyc Gene:HS16496, NCBI Gene:139804, RefSeq DNA:NT_028405, RefSeq Protein:NP_001138818, RefSeq RNA:NM_001145346, UniProtKB:Q8N7X1 No chrX 114423963 114427536 115189400 115192868 +PA34278 3186 HGNC:9911 ENSG00000216835 RNA binding motif protein, X-linked pseudogene 1 RBMXP1 HNRNP-G Yes No Ensembl:ENSG00000216835, GenAtlas:RBMXP1, GeneCard:RBMXP1, HGNC:HGNC:9911, NCBI Gene:3186, RefSeq DNA:NG_001022, RefSeq DNA:NT_007592, UCSC Genome Browser:NM_002139 No chr6 48180639 48182705 48212903 48214969 +PA34279 5940 HGNC:9912 ENSG00000234414 RNA binding motif protein Y-linked family 1 member A1 RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1 RBM1, RBM2, YRRM1, YRRM2 Yes No Ensembl:ENSG00000234414, GenAtlas:RBMY1A1, GeneCard:RBMY1A1, HGNC:HGNC:9912, HumanCyc Gene:HS05543, HumanCyc Gene:HS10010, HumanCyc Gene:HS10813, NCBI Gene:5940, OMIM:400006, RefSeq DNA:NG_004832, RefSeq DNA:NG_012805, RefSeq DNA:NT_011875, RefSeq Protein:NP_005049, RefSeq RNA:NM_005058, UCSC Genome Browser:NM_005058, UniProtKB:Q15414 No chrY 23696724 23721586 21534879 21559683 +PA38712 286557 HGNC:18849 ENSG00000197038 RNA binding motif protein, Y-linked, family 1, member A3 pseudogene RBMY1A3P Yes No Ensembl:ENSG00000197038, GenAtlas:RBMY1A3P, GeneCard:RBMY1A3P, HGNC:HGNC:18849, NCBI Gene:286557, RefSeq DNA:NT_086998, RefSeq RNA:NR_001547 No chrY 9154670 9160483 9317061 9322874 +PA134872137 378948 HGNC:23914 ENSG00000242875 RNA binding motif protein Y-linked family 1 member B RBMY1B RNA binding motif protein, Y-linked, family 1, member B Yes No Ensembl:ENSG00000242875, GeneCard:RBMY1B, HGNC:HGNC:23914, ModBase:A6NDE4, NCBI Gene:378948, RefSeq DNA:NG_004832, RefSeq DNA:NT_011875, RefSeq Protein:NP_001006121, RefSeq RNA:NM_001006121, UniProtKB:A6NDE4 No chrY 23673186 23687672 21511338 21527212 +PA34281 5942 HGNC:9914 RNA binding motif protein Y-linked family 1 member C RBMY1C RNA binding motif protein, Y-linked, family 1, member C Yes No GenAtlas:RBMY1C, GeneCard:RBMY1C, HGNC:HGNC:9914, NCBI Gene:5942, UCSC Genome Browser:NM_005058 No chrY +PA134863616 378949 HGNC:23915 ENSG00000244395 RNA binding motif protein Y-linked family 1 member D RBMY1D RNA binding motif protein, Y-linked, family 1, member D Yes No Ensembl:ENSG00000244395, GeneCard:RBMY1D, HGNC:HGNC:23915, ModBase:P0C7P1, NCBI Gene:378949, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_001006120, RefSeq RNA:NM_001006120, UniProtKB:P0C7P1 No chrY 24015849 24040715 21869719 21900746 +PA134905273 378950 HGNC:23916 ENSG00000242389 RNA binding motif protein Y-linked family 1 member E RBMY1E RNA binding motif protein, Y-linked, family 1, member E Yes No Ensembl:ENSG00000242389, GeneCard:RBMY1E, HGNC:HGNC:23916, ModBase:A6NEQ0, NCBI Gene:378950, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_001006118, RefSeq RNA:NM_001006118, UniProtKB:A6NEQ0 No chrY 24049765 24064252 21902174 21918044 +PA134991920 159163 HGNC:23974 ENSG00000169800, ENSG00000226941 RNA binding motif protein Y-linked family 1 member F RBMY1F RNA binding motif protein, Y-linked, family 1, member F MGC33094 Yes No Ensembl:ENSG00000169800, Ensembl:ENSG00000226941, GeneCard:RBMY1F, HGNC:HGNC:23974, NCBI Gene:159163, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_689798, RefSeq RNA:NM_152585 No chrY 24314689 24329172 22167099 22182942 +PA165791573 100287769 HGNC:9915 RNA binding motif protein, Y-linked, family 1, member G, pseudogene RBMY1GP Yes No HGNC:HGNC:9915, NCBI Gene:100287769 No chrY 9163099 9168196 9325490 9330587 +PA34283 5944 HGNC:9916 ENSG00000169811 RNA binding motif protein, Y-linked, family 1, member H, pseudogene RBMY1HP Yes No Ensembl:ENSG00000169811, GenAtlas:RBMY1H, GeneCard:RBMY1HP, HGNC:HGNC:9916, NCBI Gene:5944, RefSeq DNA:NG_004832, RefSeq DNA:NT_011875, UCSC Genome Browser:NM_005404 No chrY 23655305 23664223 21493419 21502337 +PA134946298 378951 HGNC:23917 ENSG00000226941 RNA binding motif protein Y-linked family 1 member J RBMY1J RNA binding motif protein, Y-linked, family 1, member J Yes No Ensembl:ENSG00000226941, GeneCard:RBMY1J, HGNC:HGNC:23917, ModBase:Q15415, NCBI Gene:378951, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq Protein:NP_001006117, RefSeq RNA:NM_001006117, UniProtKB:Q15415 No chrY 24549543 24564028 22403410 22419317 +PA165791574 100874497 HGNC:38750 ENSG00000229234 RNA binding motif protein, Y-linked, family 1, member K, pseudogene RBMY1KP RBMY1K Yes No Ensembl:ENSG00000229234, HGNC:HGNC:38750, NCBI Gene:100874497 No chrY 24355478 24362727 22209331 22216580 +PA34284 5945 HGNC:9917 ENSG00000226092 RNA binding motif protein, Y-linked, family 2, member A pseudogene RBMY2AP Yes No Ensembl:ENSG00000226092, GenAtlas:RBMY2AP, GeneCard:RBMY2AP, HGNC:HGNC:9917, NCBI Gene:5945, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 24073262 24085386 21927115 21939239 +PA34285 375850 HGNC:9918 ENSG00000224657 RNA binding motif protein, Y-linked, family 2, member B pseudogene RBMY2BP Yes No Ensembl:ENSG00000224657, GenAtlas:RBMY2BP, GeneCard:RBMY2BP, HGNC:HGNC:9918, NCBI Gene:375850, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, UCSC Genome Browser:NM_005405 No chrY 24793303 24801365 22647156 22655218 +PA134944219 140123 HGNC:23260 ENSG00000215540 RNA binding motif protein, Y-linked, family 2, member C pseudogene RBMY2CP Yes No Ensembl:ENSG00000215540, GeneCard:RBMY2CP, HGNC:HGNC:23260, NCBI Gene:140123, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 25683049 25695178 23536902 23549031 +PA134956878 347598 HGNC:23259 ENSG00000215507 RNA binding motif protein, Y-linked, family 2, member D pseudogene RBMY2DP Yes No Ensembl:ENSG00000215507, GeneCard:RBMY2DP, HGNC:HGNC:23259, NCBI Gene:347598, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:XR_042013 No chrY 28267732 28279861 26121585 26133714 +PA134927663 159125 HGNC:23890 ENSG00000223637 RNA binding motif protein, Y-linked, family 2, member E pseudogene RBMY2EP Yes No Ensembl:ENSG00000223637, GeneCard:RBMY2EP, HGNC:HGNC:23890, NCBI Gene:159125, RefSeq DNA:NG_004832, RefSeq DNA:NT_011875, RefSeq RNA:NR_001574 No chrY 23557034 23563448 21395148 21401562 +PA134973718 159162 HGNC:23891 ENSG00000243040 RNA binding motif protein, Y-linked, family 2, member F pseudogene RBMY2FP MGC26641 Yes No Ensembl:ENSG00000243040, GeneCard:RBMY2FP, HGNC:HGNC:23891, NCBI Gene:159162, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_002193 No chrY 24455004 24462352 22308859 22316205 +PA134865112 378952 HGNC:23892 ENSG00000223744 RNA binding motif protein, Y-linked, family 2, member G pseudogene RBMY2GP Yes No Ensembl:ENSG00000223744, GeneCard:RBMY2GP, HGNC:HGNC:23892, NCBI Gene:378952, RefSeq DNA:NG_003081, RefSeq DNA:NT_011896 No chrY 6196230 6211625 6328189 6343584 +PA134932126 378953 HGNC:23893 ENSG00000238073 RNA binding motif protein, Y-linked, family 2, member H pseudogene RBMY2HP Yes No Ensembl:ENSG00000238073, GeneCard:RBMY2HP, HGNC:HGNC:23893, NCBI Gene:378953, RefSeq DNA:NG_003082, RefSeq DNA:NT_011896 No chrY 7539509 7546019 7671470 7678012 +PA134919266 378955 HGNC:23918 ENSG00000227204 RNA binding motif protein, Y-linked, family 2, member J pseudogene RBMY2JP Yes No Ensembl:ENSG00000227204, GeneCard:RBMY2JP, HGNC:HGNC:23918, NCBI Gene:378955, RefSeq DNA:NG_003083, RefSeq DNA:NT_011896 No chrY 7995165 8012671 8127124 8144630 +PA134948674 140100 HGNC:23888 ENSG00000225809 RNA binding motif protein, Y-linked, family 2, member K pseudogene RBMY2KP Yes No Ensembl:ENSG00000225809, GeneCard:RBMY2KP, HGNC:HGNC:23888, NCBI Gene:140100, RefSeq DNA:NG_003074, RefSeq DNA:NT_011896 No chrY 8132217 8147187 8264166 8277195 +PA134972037 140101 HGNC:23889 RNA binding motif protein, Y-linked, family 2, member M pseudogene RBMY2MP Yes No GeneCard:RBMY2MP, HGNC:HGNC:23889, NCBI Gene:140101, RefSeq DNA:NG_003075, RefSeq DNA:NT_011896 No chrY 8772259 8784385 8904183 8916345 +PA134902396 378956 HGNC:23919 ENSG00000229208 RNA binding motif protein, Y-linked, family 2, member N pseudogene RBMY2NP Yes No Ensembl:ENSG00000229208, GeneCard:RBMY2NP, HGNC:HGNC:23919, NCBI Gene:378956, RefSeq DNA:NG_003084, RefSeq DNA:NT_011878 No chrY 9669027 9673576 9831418 9835967 +PA134984079 379005 HGNC:23894 ENSG00000234950 RNA binding motif protein, Y-linked, family 2, member O pseudogene RBMY2OP Yes No Ensembl:ENSG00000234950, GeneCard:RBMY2OP, HGNC:HGNC:23894, NCBI Gene:379005, RefSeq DNA:NG_003085, RefSeq DNA:NT_011878 No chrY 9789156 9797452 9951547 9959843 +PA134885176 379006 HGNC:23895 ENSG00000236718 RNA binding motif protein, Y-linked, family 2, member Q pseudogene RBMY2QP Yes No Ensembl:ENSG00000236718, GeneCard:RBMY2QP, HGNC:HGNC:23895, NCBI Gene:379006, RefSeq DNA:NG_003086, RefSeq DNA:NT_011878 No chrY 9859825 9872899 10022206 10035324 +PA134879126 379007 HGNC:23896 RNA binding motif protein, Y-linked, family 2, member S pseudogene RBMY2SP Yes No GeneCard:RBMY2SP, HGNC:HGNC:23896, NCBI Gene:379007, RefSeq DNA:NG_004832, RefSeq DNA:NT_011875 No chrY 23473047 23481321 21311161 21319435 +PA134904802 379008 HGNC:23897 ENSG00000237269 RNA binding motif protein, Y-linked, family 2, member T pseudogene RBMY2TP Yes No Ensembl:ENSG00000237269, GeneCard:RBMY2TP, HGNC:HGNC:23897, NCBI Gene:379008, RefSeq DNA:NG_004832, RefSeq DNA:NT_011875 No chrY 23592210 23599233 21430324 21437347 +PA134864323 379009 HGNC:23898 ENSG00000225615 RNA binding motif protein, Y-linked, family 2, member U pseudogene RBMY2UP Yes No Ensembl:ENSG00000225615, GeneCard:RBMY2UP, HGNC:HGNC:23898, NCBI Gene:379009, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 24344469 24348024 22198322 22201877 +PA134983340 379010 HGNC:23899 RNA binding motif protein, Y-linked, family 2, member V pseudogene RBMY2VP Yes No GeneCard:RBMY2VP, HGNC:HGNC:23899, NCBI Gene:379010, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 24527713 24534243 22381566 22388096 +PA134978043 379011 HGNC:23900 ENSG00000230727 RNA binding motif protein, Y-linked, family 2, member W pseudogene RBMY2WP Yes No Ensembl:ENSG00000230727, GeneCard:RBMY2WP, HGNC:HGNC:23900, NCBI Gene:379011, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 24908471 24916037 22762324 22769890 +PA134979542 379012 HGNC:23901 ENSG00000234399 RNA binding motif protein, Y-linked, family 2, member X pseudogene RBMY2XP Yes No Ensembl:ENSG00000234399, GeneCard:RBMY2XP, HGNC:HGNC:23901, NCBI Gene:379012, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 26542224 26549780 24396077 24403633 +PA134936138 379024 HGNC:23902 ENSG00000227633 RNA binding motif protein, Y-linked, family 2, member Y pseudogene RBMY2YP Yes No Ensembl:ENSG00000227633, GeneCard:RBMY2YP, HGNC:HGNC:23902, NCBI Gene:379024, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 27412627 27420192 25266480 25274045 +PA134913724 64593 HGNC:23286 ENSG00000231436 RNA binding motif protein, Y-linked, family 3, member A pseudogene RBMY3AP RBMY3P, RBMY4P, SPATA14 Yes No Ensembl:ENSG00000231436, GeneCard:RBMY3AP, HGNC:HGNC:23286, NCBI Gene:64593, RefSeq DNA:NT_011878, RefSeq RNA:NR_001573 No chrY 9448330 9452762 9610721 9615153 +PA34286 5947 HGNC:9919 ENSG00000114115, ENSG00000248478 retinol binding protein 1 RBP1 """cellular retinol binding protein 1"", ""retinol binding protein 1, cellular""" CRABP-I, CRBP, CRBP-I, CRBP1, CRBPI, RBPC, hCRBP1 Yes No Comparative Toxicogenomics Database:5947, Ensembl:ENSG00000114115, Ensembl:ENSG00000248478, GenAtlas:RBP1, GeneCard:RBP1, HGNC:HGNC:9919, HumanCyc Gene:HS03740, ModBase:P09455, NCBI Gene:5947, OMIM:180260, RefSeq DNA:NT_005612, RefSeq Protein:NP_001124464, RefSeq Protein:NP_001124465, RefSeq Protein:NP_002890, RefSeq RNA:NM_001130992, RefSeq RNA:NM_001130993, RefSeq RNA:NM_002899, UCSC Genome Browser:NM_002899, UniProtKB:P09455 No chr3 139236276 139258671 139517434 139539829 +PA34287 5948 HGNC:9920 ENSG00000114113 retinol binding protein 2 RBP2 retinol binding protein 2, cellular CRABP-II, CRBP2, CRBPII, RBPC2 Yes No Comparative Toxicogenomics Database:5948, Ensembl:ENSG00000114113, GenAtlas:RBP2, GeneCard:RBP2, HGNC:HGNC:9920, HumanCyc Gene:HS03739, ModBase:P50120, NCBI Gene:5948, OMIM:180280, RefSeq DNA:NT_005612, RefSeq Protein:NP_004155, RefSeq RNA:NM_004164, UCSC Genome Browser:NM_004164, UniProtKB:P50120 No chr3 139171726 139199662 139452884 139476510 +PA34288 5949 HGNC:9921 ENSG00000265203 retinol binding protein 3 RBP3 """interphotoreceptor retinoid-binding protein"", ""interstitial retinol-binding protein 3"", ""retinol binding protein 3, interstitial""" D10S64, D10S65, D10S66, IRBP, RP66 Yes No Comparative Toxicogenomics Database:5949, Ensembl:ENSG00000265203, GenAtlas:RBP3, GeneCard:RBP3, HGNC:HGNC:9921, HumanCyc Gene:HS03012, ModBase:P10745, NCBI Gene:5949, OMIM:180290, RefSeq DNA:NT_030772, RefSeq Protein:NP_002891, RefSeq RNA:NM_002900, UCSC Genome Browser:NM_002900, UniProtKB:P10745, UniProtKB:Q8IXN0 No chr10 48381487 48390991 47348371 47357875 +PA34289 5950 HGNC:9922 ENSG00000138207 retinol binding protein 4 RBP4 retinol binding protein 4, plasma Yes No Comparative Toxicogenomics Database:5950, Ensembl:ENSG00000138207, GenAtlas:RBP4, GeneCard:RBP4, HGNC:HGNC:9922, HumanCyc Gene:HS06474, ModBase:P02753, NCBI Gene:5950, OMIM:180250, RefSeq DNA:NG_009104, RefSeq DNA:NT_030059, RefSeq Protein:NP_006735, RefSeq RNA:NM_006744, UCSC Genome Browser:NM_006744, UniProtKB:P02753 No chr10 95351593 95361101 93591836 93601744 +PA164742366 83758 HGNC:15847 ENSG00000139194 retinol binding protein 5 RBP5 retinol binding protein 5, cellular CRBP-III, CRBP3, CRBPIII Yes No Ensembl:ENSG00000139194, GeneCard:RBP5, HGNC:HGNC:15847, HumanCyc Gene:HS06594, ModBase:P82980, NCBI Gene:83758, OMIM:611866, RefSeq DNA:NT_009714, RefSeq Protein:NP_113679, RefSeq RNA:NM_031491, UniProtKB:P82980 No chr12 7276280 7281466 7119106 7130272 +PA134988307 116362 HGNC:30316 ENSG00000162444 retinol binding protein 7 RBP7 """cellular retinol binding protein 7"", ""retinol binding protein 7, cellular""" CRBPIV Yes No Ensembl:ENSG00000162444, GeneCard:RBP7, HGNC:HGNC:30316, HumanCyc Gene:HS08680, ModBase:Q96R05, NCBI Gene:116362, OMIM:608604, RefSeq DNA:NT_021937, RefSeq Protein:NP_443192, RefSeq RNA:NM_052960, UniProtKB:Q96R05 No chr1 10057255 10076078 9997197 10016020 +PA34292 3516 HGNC:5724 ENSG00000168214 recombination signal binding protein for immunoglobulin kappa J region RBPJ suppressor of hairless homolog (Drosophila) CBF1, IGKJRB, IGKJRB1, KBF2, RBP-J, RBPJK, RBPSUH, SUH Yes No Ensembl:ENSG00000168214, GenAtlas:RBPSUH, GeneCard:RBPJ, GeneCard:RBPSUH, HGNC:HGNC:5724, NCBI Gene:3516, OMIM:147183, RefSeq DNA:NT_006316, RefSeq Protein:NP_005340, RefSeq Protein:NP_056958, RefSeq Protein:NP_976028, RefSeq Protein:NP_976029, RefSeq RNA:NM_005349, RefSeq RNA:NM_015874, RefSeq RNA:NM_203283, RefSeq RNA:NM_203284, UCSC Genome Browser:NM_005349, UniProtKB:B4DY22, UniProtKB:Q06330 No chr4 26165077 26436753 26163489 26435131 +PA162400876 11317 HGNC:13761 ENSG00000124232 recombination signal binding protein for immunoglobulin kappa J region like RBPJL recombination signal binding protein for immunoglobulin kappa J region-like RBP-L, RBPSUHL, SUH, SUHL Yes No Ensembl:ENSG00000124232, GeneCard:RBPJL, HGNC:HGNC:13761, HumanCyc Gene:HS04746, ModBase:Q9UBG7, NCBI Gene:11317, RefSeq DNA:NT_011362, RefSeq Protein:NP_055091, RefSeq RNA:NM_014276, UniProtKB:Q9UBG7 No chr20 43935483 43946464 45306836 45319677 +PA34294 3517 HGNC:5726 ENSG00000274181 RBPJ pseudogene 2 RBPJP2 RBPSUHP2 Yes No Ensembl:ENSG00000274181, GenAtlas:RBPSUHP1, GeneCard:RBPJP2, HGNC:HGNC:5726, NCBI Gene:3517, RefSeq DNA:NG_001151, RefSeq DNA:NT_113814, RefSeq DNA:NT_167189 No chr9 65972985 65975258 66635579 66637852 +PA34296 58164 HGNC:13686 RBPJ pseudogene 3 RBPJP3 K2 Yes No GenAtlas:RBPSUHP3, GeneCard:RBPJP3, HGNC:HGNC:13686, NCBI Gene:58164, RefSeq DNA:NG_001292 No chr9 +PA34297 58163 HGNC:13687 RBPJ pseudogene 4 RBPJP4 K7 Yes No GenAtlas:RBPSUHP4, GeneCard:RBPJP4, HGNC:HGNC:13687, NCBI Gene:58163, RefSeq DNA:NG_001291 No chr9 +PA134985584 11030 HGNC:19097 ENSG00000157110 RNA binding protein, mRNA processing factor RBPMS RNA binding protein with multiple splicing HERMES Yes No Comparative Toxicogenomics Database:11030, Ensembl:ENSG00000157110, GeneCard:RBPMS, HGNC:HGNC:19097, HumanCyc Gene:HS08180, ModBase:Q93062, NCBI Gene:11030, OMIM:601558, RefSeq DNA:NT_167187, RefSeq Protein:NP_001008710, RefSeq Protein:NP_001008711, RefSeq Protein:NP_001008712, RefSeq Protein:NP_006858, RefSeq RNA:NM_001008710, RefSeq RNA:NM_001008711, RefSeq RNA:NM_001008712, RefSeq RNA:NM_006867, UniProtKB:Q93062 No chr8 30242017 30429778 30384501 30572261 +PA134871904 348093 HGNC:19098 ENSG00000166831 RNA binding protein, mRNA processing factor 2 RBPMS2 RNA binding protein with multiple splicing 2 Yes No Ensembl:ENSG00000166831, GeneCard:RBPMS2, HGNC:HGNC:19098, ModBase:Q6ZRY4, NCBI Gene:348093, RefSeq DNA:NT_010194, RefSeq Protein:NP_919248, RefSeq RNA:NM_194272, UniProtKB:Q6ZRY4 No chr15 65032093 65067770 64739894 64775571 +PA34291 54032 HGNC:9923 ENSG00000234159 RNA binding protein with multiple splicing-like pseudogene RBPMSLP Yes No Ensembl:ENSG00000234159, GenAtlas:RBPMSLP, GeneCard:RBPMSLP, HGNC:HGNC:9923, NCBI Gene:54032 No chr21 17116323 17116647 15744004 15744328 +PA134959491 64145 HGNC:20759 ENSG00000131381 rabenosyn, RAB effector RBSN """Rabenosyn-5"", ""zinc finger, FYVE domain containing 20""" ZFYVE20 Yes No Ensembl:ENSG00000131381, GeneCard:ZFYVE20, HGNC:HGNC:20759, HumanCyc Gene:HS05519, ModBase:Q9H1K0, NCBI Gene:64145, OMIM:609511, RefSeq DNA:NT_022517, RefSeq Protein:NP_071735, RefSeq RNA:NM_022340, UniProtKB:Q9H1K0 No chr3 15111580 15140662 15070069 15099163 +PA34299 9978 HGNC:9928 ENSG00000100387 ring-box 1 RBX1 """regulator of cullins 1"", ""ring-box 1, E3 ubiquitin protein ligase""" BA554C12.1, RNF75, ROC1 Yes Yes Comparative Toxicogenomics Database:9978, Ensembl:ENSG00000100387, GenAtlas:RBX1, GeneCard:RBX1, HGNC:HGNC:9928, HumanCyc Gene:HS02070, ModBase:P62877, NCBI Gene:9978, OMIM:603814, RefSeq DNA:NT_011520, RefSeq Protein:NP_055063, RefSeq RNA:NM_014248, UCSC Genome Browser:NM_014248, UniProtKB:P62877 No chr22 41347351 41369019 40951347 40973015 +PA142671090 149041 HGNC:29434 ENSG00000135870 ring finger and CCCH-type domains 1 RC3H1 KIAA2025 protein, roquin-1 KIAA2025, RNF198, RP5-1198E17.5, roquin Yes No Ensembl:ENSG00000135870, GeneCard:RC3H1, HGNC:HGNC:29434, ModBase:Q5TC82, NCBI Gene:149041, OMIM:609424, RefSeq DNA:NT_004487, RefSeq Protein:NP_742068, RefSeq RNA:NM_172071, UniProtKB:Q5TC82 No chr1 173900352 173962210 173931084 173993072 +PA162400905 54542 HGNC:21461 ENSG00000056586 ring finger and CCCH-type domains 2 RC3H2 roquin-2 FLJ20301, FLJ20713, MNAB, RNF164 Yes No Ensembl:ENSG00000056586, GeneCard:RC3H2, HGNC:HGNC:21461, HumanCyc Gene:HS00697, ModBase:Q9NXE1, NCBI Gene:54542, RefSeq DNA:NT_008470, RefSeq Protein:NP_001094058, RefSeq Protein:NP_061323, RefSeq RNA:NM_001100588, RefSeq RNA:NM_018835, UniProtKB:Q9HBD1 No chr9 125606835 125667562 122849453 122905283 +PA162400946 1827 HGNC:3040 ENSG00000159200 regulator of calcineurin 1 RCAN1 DSCR1 Yes No Ensembl:ENSG00000159200, GeneCard:RCAN1, HGNC:HGNC:3040, HumanCyc Gene:HS08372, ModBase:Q9UF15, ModBase:Q9UME4, NCBI Gene:1827, OMIM:602917, RefSeq DNA:NG_007071, RefSeq DNA:NT_011512, RefSeq Protein:NP_004405, RefSeq Protein:NP_981962, RefSeq Protein:NP_981963, RefSeq RNA:NM_004414, RefSeq RNA:NM_203417, RefSeq RNA:NM_203418, UniProtKB:P53805, UniProtKB:Q6FGP2 No chr21 35888782 35987382 34516442 34615142 +PA162400959 10231 HGNC:3041 ENSG00000172348 regulator of calcineurin 2 RCAN2 DSCR1L1, ZAKI-4 Yes No Ensembl:ENSG00000172348, GeneCard:RCAN2, HGNC:HGNC:3041, HumanCyc Gene:HS10496, ModBase:Q14206, NCBI Gene:10231, OMIM:604876, RefSeq DNA:NT_007592, RefSeq Protein:NP_005813, RefSeq RNA:NM_005822, UniProtKB:Q14206, UniProtKB:Q86YJ0 No chr6 46188467 46459804 46220730 46492067 +PA162400972 11123 HGNC:3042 ENSG00000117602 RCAN family member 3 RCAN3 DSCR1L2 Yes No Ensembl:ENSG00000117602, GeneCard:RCAN3, HGNC:HGNC:3042, HumanCyc Gene:HS04157, ModBase:Q9UKA8, NCBI Gene:11123, OMIM:605860, RefSeq DNA:NT_004610, RefSeq Protein:NP_038469, RefSeq RNA:NM_013441, UniProtKB:Q9UKA8 No chr1 24828841 24863510 24502351 24537020 +PA134955699 55213 HGNC:18243 ENSG00000136144 RCC1 and BTB domain containing protein 1 RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 CLLD7, CLLL7, FLJ10716 Yes No Ensembl:ENSG00000136144, GeneCard:RCBTB1, HGNC:HGNC:18243, HumanCyc Gene:HS06117, ModBase:Q8NDN9, NCBI Gene:55213, OMIM:103780, OMIM:607867, RefSeq DNA:NT_024524, RefSeq Protein:NP_060661, RefSeq RNA:NM_018191, UniProtKB:B3KR20, UniProtKB:Q8NDN9 No chr13 50106082 50159742 49531944 49585606 +PA26450 1102 HGNC:1914 ENSG00000136161 RCC1 and BTB domain containing protein 2 RCBTB2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 CHC1L Yes No Comparative Toxicogenomics Database:1102, Ensembl:ENSG00000136161, GenAtlas:RCBTB2, GeneCard:RCBTB2, HGNC:HGNC:1914, HumanCyc Gene:HS06126, ModBase:O95199, NCBI Gene:1102, OMIM:603524, RefSeq DNA:NT_024524, RefSeq Protein:NP_001259, RefSeq RNA:NM_001268, UCSC Genome Browser:NM_001268, UniProtKB:O95199 No chr13 49063099 49107341 48488963 48535995 +PA26449 1104 HGNC:1913 ENSG00000180198 regulator of chromosome condensation 1 RCC1 CHC1, SNHG3-RCC1 Yes No Comparative Toxicogenomics Database:1104, Ensembl:ENSG00000180198, GenAtlas:RCC1, GeneCard:RCC1, HGNC:HGNC:1913, HumanCyc Gene:HS11466, ModBase:P18754, NCBI Gene:1104, OMIM:179710, RefSeq DNA:NT_004610, RefSeq Protein:NP_001041659, RefSeq Protein:NP_001041660, RefSeq Protein:NP_001041662, RefSeq Protein:NP_001041663, RefSeq Protein:NP_001041664, RefSeq Protein:NP_001260, RefSeq RNA:NM_001048194, RefSeq RNA:NM_001048195, RefSeq RNA:NM_001048197, RefSeq RNA:NM_001048198, RefSeq RNA:NM_001048199, RefSeq RNA:NM_001269, RefSeq RNA:NM_001381865, RefSeq RNA:NM_001381866, UCSC Genome Browser:NM_001269, UniProtKB:Q6NT97 No chr1 28832455 28865708 28505943 28539196 +PA37941 81554 HGNC:14948 ENSG00000274523 RCC1 like RCC1L Williams-Beuren syndrome chromosome region 16 WBSCR16 Yes No Comparative Toxicogenomics Database:81554, Ensembl:ENSG00000274523, GenAtlas:WBSCR16, GeneCard:WBSCR16, HGNC:HGNC:14948, HumanCyc Gene:HS10793, ModBase:Q96I51, NCBI Gene:81554, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_110425, RefSeq RNA:NM_030798, UCSC Genome Browser:NM_030798, UniProtKB:Q96I51 No chr7 74441223 74489717 75027119 75073881 +PA142671091 55920 HGNC:30297 ENSG00000179051 regulator of chromosome condensation 2 RCC2 TD-60 Yes No Comparative Toxicogenomics Database:55920, Ensembl:ENSG00000179051, GeneCard:RCC2, HGNC:HGNC:30297, ModBase:Q9P258, NCBI Gene:55920, OMIM:609587, RefSeq DNA:NT_004610, RefSeq Protein:NP_001129676, RefSeq Protein:NP_061185, RefSeq RNA:NM_001136204, RefSeq RNA:NM_018715, UniProtKB:Q9P258 No chr1 17733251 17766250 17406755 17439754 +PA142671092 91433 HGNC:30457 ENSG00000166965 RCC1 domain containing 1 RCCD1 MGC14386 Yes No Ensembl:ENSG00000166965, GeneCard:RCCD1, HGNC:HGNC:30457, HumanCyc Gene:HS15508, ModBase:A6NED2, NCBI Gene:91433, RefSeq DNA:NT_010274, RefSeq Protein:NP_001017919, RefSeq Protein:NP_291022, RefSeq RNA:NM_001017919, RefSeq RNA:NM_033544, UniProtKB:A6NED2 No chr15 91498106 91506355 90954864 90964858 +PA34302 9986 HGNC:13721 ENSG00000173653 Ras converting CAAX endopeptidase 1 RCE1 """CAAX prenyl protease 2"", ""RCE1 homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"", ""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2""" FACE-2, FACE2, RCE1A, RCE1B, hRCE1 Yes No Ensembl:ENSG00000173653, GenAtlas:RCE1, GeneCard:RCE1, HGNC:HGNC:13721, HumanCyc Gene:HS10707, ModBase:Q9Y256, NCBI Gene:9986, OMIM:605385, RefSeq DNA:NT_167190, RefSeq Protein:NP_001027450, RefSeq Protein:NP_005124, RefSeq RNA:NM_001032279, RefSeq RNA:NM_005133, UCSC Genome Browser:NM_005133, UniProtKB:Q9Y256 No chr11 66610883 66614003 66843412 66846532 +PA38240 25898 HGNC:17479 ENSG00000163743 ring finger and CHY zinc finger domain containing 1 RCHY1 """androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase"", ""zinc finger, CHY-type""" ARNIP, CHIMP, DKFZp586C1620, PIRH2, PRO1996, RNF199, ZCHY, ZNF363 Yes No Ensembl:ENSG00000163743, GenAtlas:RCHY1, GeneCard:RCHY1, HGNC:HGNC:17479, HumanCyc Gene:HS08928, ModBase:Q96PM5, NCBI Gene:25898, OMIM:607680, RefSeq DNA:NT_016354, RefSeq Protein:NP_001008925, RefSeq Protein:NP_001009922, RefSeq Protein:NP_056251, RefSeq RNA:NM_001008925, RefSeq RNA:NM_001009922, RefSeq RNA:NM_015436, RefSeq RNA:NR_037913, RefSeq RNA:NR_037914, UCSC Genome Browser:NM_015436, UniProtKB:Q96PM5 No chr4 76404247 76439884 75479037 75515057 +PA134894364 10171 HGNC:17687 ENSG00000120158 RNA terminal phosphate cyclase like 1 RCL1 RNA terminal phosphate cyclase-like 1 RNAC, RPCL1 Yes No Comparative Toxicogenomics Database:10171, Ensembl:ENSG00000120158, GeneCard:RCL1, HGNC:HGNC:17687, HumanCyc Gene:HS04375, ModBase:Q9Y2P8, NCBI Gene:10171, OMIM:611405, RefSeq DNA:NT_008413, RefSeq Protein:NP_005763, RefSeq RNA:NM_005772, UniProtKB:Q9Y2P8 No chr9 4792834 4861066 4792834 4861077 +PA34303 5954 HGNC:9934 ENSG00000049449 reticulocalbin 1 RCN1 """proliferation-inducing gene 20"", ""reticulocalbin 1, EF-hand calcium binding domain""" FLJ37041, PIG20, RCN, Rcal Yes No Comparative Toxicogenomics Database:5954, Ensembl:ENSG00000049449, GenAtlas:RCN1, GeneCard:RCN1, HGNC:HGNC:9934, HumanCyc Gene:HS00621, ModBase:Q15293, NCBI Gene:5954, OMIM:602735, RefSeq DNA:NT_009237, RefSeq Protein:NP_002892, RefSeq RNA:NM_002901, UCSC Genome Browser:NM_002901, UniProtKB:Q15293 No chr11 32112477 32127272 32090931 32105726 +PA34304 5955 HGNC:9935 ENSG00000117906 reticulocalbin 2 RCN2 """Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"", ""reticulocalbin 2, EF-hand calcium binding domain""" E6BP, ERC-55, ERC55, TCBP49 Yes No Comparative Toxicogenomics Database:5955, Ensembl:ENSG00000117906, GenAtlas:RCN2, GeneCard:RCN2, HGNC:HGNC:9935, HumanCyc Gene:HS04180, ModBase:Q14257, NCBI Gene:5955, OMIM:602584, RefSeq DNA:NT_010194, RefSeq Protein:NP_002893, RefSeq RNA:NM_002902, UCSC Genome Browser:NM_002902, UniProtKB:Q14257 No chr15 77223962 77242601 76931621 76950260 +PA134880380 57333 HGNC:21145 ENSG00000142552 reticulocalbin 3 RCN3 reticulocalbin 3, EF-hand calcium binding domain RLP49 Yes No Comparative Toxicogenomics Database:57333, Ensembl:ENSG00000142552, GeneCard:RCN3, HGNC:HGNC:21145, HumanCyc Gene:HS06937, ModBase:Q96D15, NCBI Gene:57333, RefSeq DNA:NT_011109, RefSeq Protein:NP_065701, RefSeq RNA:NM_020650, UniProtKB:Q96D15 No chr19 50030875 50046891 49527579 49543638 +PA34305 23186 HGNC:17441 ENSG00000089902 REST corepressor 1 RCOR1 COREST, KIAA0071, RCOR Yes No Comparative Toxicogenomics Database:23186, Ensembl:ENSG00000089902, GenAtlas:RCOR1, GeneCard:RCOR1, HGNC:HGNC:17441, HumanCyc Gene:HS01668, ModBase:Q9UKL0, NCBI Gene:23186, OMIM:607675, RefSeq DNA:NT_026437, RefSeq Protein:NP_055971, RefSeq RNA:NM_015156, UCSC Genome Browser:NM_015156, UniProtKB:Q9UKL0 No chr14 103058996 103196913 102592638 102730576 +PA134876257 283248 HGNC:27455 ENSG00000167771 REST corepressor 2 RCOR2 Yes No Comparative Toxicogenomics Database:283248, Ensembl:ENSG00000167771, GeneCard:RCOR2, HGNC:HGNC:27455, HumanCyc Gene:HS09630, ModBase:Q8IZ40, NCBI Gene:283248, RefSeq DNA:NT_167190, RefSeq Protein:NP_775858, RefSeq RNA:NM_173587, UniProtKB:Q8IZ40 No chr11 63678693 63684407 63911221 63916844 +PA134917623 55758 HGNC:25594 ENSG00000117625 REST corepressor 3 RCOR3 FLJ10876 Yes No Comparative Toxicogenomics Database:55758, Ensembl:ENSG00000117625, GeneCard:RCOR3, HGNC:HGNC:25594, HumanCyc Gene:HS04160, ModBase:Q9P2K3, NCBI Gene:55758, RefSeq DNA:NT_167186, RefSeq Protein:NP_001129695, RefSeq Protein:NP_001129696, RefSeq Protein:NP_001129697, RefSeq Protein:NP_060724, RefSeq RNA:NM_001136223, RefSeq RNA:NM_001136224, RefSeq RNA:NM_001136225, RefSeq RNA:NM_018254, UniProtKB:B3KYA2, UniProtKB:B4DYY7, UniProtKB:Q9P2K3 No chr1 211432708 211489727 211259347 211316385 +PA142671088 92241 HGNC:28310 ENSG00000198771 RCSD domain containing 1 RCSD1 CapZ interacting protein CapZIP, MGC21854, MK2S4 Yes No Comparative Toxicogenomics Database:92241, Ensembl:ENSG00000198771, GeneCard:RCSD1, HGNC:HGNC:28310, NCBI Gene:92241, OMIM:610579, RefSeq DNA:NT_004487, RefSeq Protein:NP_443094, RefSeq RNA:NM_052862, UniProtKB:Q6JBY9 No chr1 167599474 167677933 167630193 167708696 +PA162400987 5957 HGNC:9937 ENSG00000109047 recoverin RCVRN RCV1 Yes No Ensembl:ENSG00000109047, GeneCard:RCVRN, HGNC:HGNC:9937, HumanCyc Gene:HS03188, ModBase:P35243, NCBI Gene:5957, OMIM:179618, RefSeq DNA:NT_010718, RefSeq Protein:NP_002894, RefSeq RNA:NM_002903, UniProtKB:P35243, UniProtKB:Q53XL0 No chr17 9801027 9808684 9897710 9905367 +PA162400998 343035 HGNC:19689 ENSG00000198570 RD3 regulator of GUCY2D RD3 """retinal degeneration 3"", ""retinal degeneration 3, GUCY2D regulator""" C1orf36, LCA12 Yes No Ensembl:ENSG00000198570, GeneCard:RD3, HGNC:HGNC:19689, NCBI Gene:343035, OMIM:180040, OMIM:610612, RefSeq DNA:NG_013042, RefSeq DNA:NT_167186, RefSeq Protein:NP_001158160, RefSeq Protein:NP_898882, RefSeq RNA:NM_001164688, RefSeq RNA:NM_183059, UniProtKB:Q7Z3Z2 No chr1 211649864 211666259 211476522 211492917 +PA166049071 647286 HGNC:40912 ENSG00000227729 RD3 like RD3L TDRD9 antisense 1, retinal degeneration 3 like, retinal degeneration 3-like TDRD9-AS1, TDRD9AS1 Yes No Ensembl:ENSG00000227729, HGNC:HGNC:40912, NCBI Gene:647286 No chr14 104406763 104408645 103940426 103942308 +PA134989620 157506 HGNC:19975 ENSG00000121039 retinol dehydrogenase 10 RDH10 """retinol dehydrogenase 10 (all-trans)"", ""short chain dehydrogenase/reductase family 16C, member 4""" SDR16C4 Yes No Comparative Toxicogenomics Database:157506, Ensembl:ENSG00000121039, GeneCard:RDH10, HGNC:HGNC:19975, HumanCyc Gene:HS13010, ModBase:Q8IZV5, NCBI Gene:157506, OMIM:607599, RefSeq DNA:NT_008183, RefSeq Protein:NP_742034, RefSeq RNA:NM_172037, UniProtKB:Q8IZV5 No chr8 74206837 74237520 73294602 73325285 +PA134981588 51109 HGNC:17964 ENSG00000072042 retinol dehydrogenase 11 RDH11 """androgen-regulated short-chain dehydrogenase/reductase 1"", ""retinol dehydrogenase 11 (all-trans/9-cis/11-cis)"", ""short chain dehydrogenase/reductase family 7C, member 1""" ARSDR1, MDT1, SDR7C1 Yes No Comparative Toxicogenomics Database:51109, Ensembl:ENSG00000072042, GeneCard:RDH11, HGNC:HGNC:17964, HumanCyc Gene:HS01050, ModBase:Q8TC12, NCBI Gene:51109, OMIM:607849, RefSeq DNA:NT_026437, RefSeq Protein:NP_057110, RefSeq RNA:NM_016026, UniProtKB:Q8TC12 No chr14 68143517 68162510 67676800 67695793 +PA134864793 145226 HGNC:19977 ENSG00000139988 retinol dehydrogenase 12 RDH12 """retinol dehydrogenase 12 (all-trans/9-cis/11-cis)"", ""short chain dehydrogenase/reductase family 7C, member 2""" FLJ30273, LCA13, LCA3, RP53, SDR7C2 Yes No Comparative Toxicogenomics Database:145226, Ensembl:ENSG00000139988, GeneCard:RDH12, HGNC:HGNC:19977, HumanCyc Gene:HS06673, ModBase:Q96NR8, NCBI Gene:145226, OMIM:604232, OMIM:608830, OMIM:612712, RefSeq DNA:NG_008321, RefSeq DNA:NT_026437, RefSeq Protein:NP_689656, RefSeq RNA:NM_152443, UniProtKB:Q96NR8 No chr14 68168603 68201168 67701886 67734451 +PA134897935 112724 HGNC:19978 ENSG00000160439 retinol dehydrogenase 13 RDH13 """retinol dehydrogenase 13 (all-trans/9-cis)"", ""short chain dehydrogenase/reductase family 7C, member 3""" SDR7C3 Yes No Ensembl:ENSG00000160439, GeneCard:RDH13, HGNC:HGNC:19978, HumanCyc Gene:HS08501, ModBase:Q8NBN7, NCBI Gene:112724, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139443, RefSeq Protein:NP_612421, RefSeq RNA:NM_001145971, RefSeq RNA:NM_138412, RefSeq RNA:NR_027381, RefSeq RNA:NR_027382, UniProtKB:B3KVA3, UniProtKB:Q8NBN7 No chr19 55555684 55580914 55038895 55069774 +PA134872714 57665 HGNC:19979 ENSG00000240857 retinol dehydrogenase 14 RDH14 """retinol dehydrogenase 14 (all-trans/9-cis/11-cis)"", ""short chain dehydrogenase/reductase family 7C, member 4""" PAN2, SDR7C4 Yes No Comparative Toxicogenomics Database:57665, Ensembl:ENSG00000240857, GeneCard:RDH14, HGNC:HGNC:19979, ModBase:Q9HBH5, NCBI Gene:57665, RefSeq DNA:NT_015926, RefSeq Protein:NP_065956, RefSeq RNA:NM_020905, UniProtKB:Q53RX3, UniProtKB:Q9HBH5 No chr2 18735989 18741959 18554723 18560693 +PA142671089 8608 HGNC:29674 ENSG00000139547 retinol dehydrogenase 16 RDH16 """microsomal NAD+ dependent retinol dehydrogenase 4"", ""retinol dehydrogenase 16 (all-trans)"", ""short chain dehydrogenase/reductase family 9C, member 8""" RODH-4, SDR9C8 Yes No Comparative Toxicogenomics Database:8608, Ensembl:ENSG00000139547, GeneCard:RDH16, HGNC:HGNC:29674, HumanCyc Gene:HS06629, ModBase:O75452, NCBI Gene:8608, RefSeq DNA:NT_029419, RefSeq Protein:NP_003699, RefSeq RNA:NM_003708, UniProtKB:O75452 No chr12 57345215 57353158 56951431 56959374 +PA34308 5959 HGNC:9940 ENSG00000135437 retinol dehydrogenase 5 RDH5 """retinol dehydrogenase 5 (11-cis/9-cis)"", ""short chain dehydrogenase/reductase family 9C, member 5""" HSD17B9, RDH1, SDR9C5 Yes No Comparative Toxicogenomics Database:5959, Ensembl:ENSG00000135437, GenAtlas:RDH5, GeneCard:RDH5, HGNC:HGNC:9940, HumanCyc Gene:HS06003, ModBase:Q92781, NCBI Gene:5959, OMIM:136880, OMIM:601617, RefSeq DNA:NG_008606, RefSeq DNA:NT_029419, RefSeq Protein:NP_001186700, RefSeq Protein:NP_002896, RefSeq RNA:NM_001199771, RefSeq RNA:NM_002905, UCSC Genome Browser:NM_002905, UniProtKB:Q92781 No chr12 56114151 56118526 55720367 55724742 +PA34309 50700 HGNC:14423 ENSG00000080511 retinol dehydrogenase 8 RDH8 """retinol dehydrogenase 8 (all-trans)"", ""short chain dehydrogenase/reductase family 28C, member 2""" PRRDH, SDR28C2 Yes No Ensembl:ENSG00000080511, GenAtlas:RDH8, GeneCard:RDH8, HGNC:HGNC:14423, HumanCyc Gene:HS01358, ModBase:Q9NYR8, NCBI Gene:50700, OMIM:608575, RefSeq DNA:NT_011295, RefSeq Protein:NP_056540, RefSeq RNA:NM_015725, UCSC Genome Browser:NM_015725, UniProtKB:Q9NYR8 No chr19 10123925 10132954 10013249 10022278 +PA134932526 201299 HGNC:19950 ENSG00000278023 RAD52 motif containing 1 RDM1 RAD52 motif 1 MGC33977, RAD52B Yes No Comparative Toxicogenomics Database:201299, Ensembl:ENSG00000278023, GeneCard:RDM1, HGNC:HGNC:19950, ModBase:Q8NG50, NCBI Gene:201299, OMIM:612896, RefSeq DNA:NT_010799, RefSeq Protein:NP_001030008, RefSeq Protein:NP_001156592, RefSeq Protein:NP_001156593, RefSeq Protein:NP_001156594, RefSeq Protein:NP_001156596, RefSeq Protein:NP_001156597, RefSeq Protein:NP_001156602, RefSeq Protein:NP_663629, RefSeq RNA:NM_001034836, RefSeq RNA:NM_001163120, RefSeq RNA:NM_001163121, RefSeq RNA:NM_001163122, RefSeq RNA:NM_001163124, RefSeq RNA:NM_001163125, RefSeq RNA:NM_001163130, RefSeq RNA:NM_145654, RefSeq RNA:NR_027996, RefSeq RNA:NR_027997, RefSeq RNA:NR_027998, RefSeq RNA:NR_027999, RefSeq RNA:NR_028000, UniProtKB:A8MY68, UniProtKB:Q8NG50 No chr17 34245084 34257780 35918080 35931821 +PA34311 5962 HGNC:9944 ENSG00000137710 radixin RDX DFNB24 Yes No Comparative Toxicogenomics Database:5962, Ensembl:ENSG00000137710, GenAtlas:RDX, GeneCard:RDX, HGNC:HGNC:9944, HumanCyc Gene:HS06379, ModBase:P35241, NCBI Gene:5962, OMIM:179410, OMIM:611022, RefSeq DNA:NG_023044, RefSeq DNA:NT_033899, RefSeq Protein:NP_002897, RefSeq RNA:NM_002906, UCSC Genome Browser:NM_002906, UniProtKB:B0YJ88, UniProtKB:P35241, UniProtKB:Q6PKD3 No chr11 110045605 110167437 110174880 110296712 +PA34312 643244 HGNC:9945 ENSG00000255387 radixin pseudogene 1 RDXP1 Yes No Ensembl:ENSG00000255387, GenAtlas:RDXP1, GeneCard:RDXP1, HGNC:HGNC:9945, NCBI Gene:643244 No chr11 4231520 4233520 4210290 4212301 +PA34313 5964 HGNC:9946 ENSG00000223391 radixin pseudogene 2 RDXP2 Yes No Ensembl:ENSG00000223391, GenAtlas:RDXP2, GeneCard:RDXP2, HGNC:HGNC:9946, NCBI Gene:5964, RefSeq DNA:NG_000867, RefSeq DNA:NT_167197 No chrX 27533288 27536000 27515171 27517883 +PA162378269 283677 HGNC:25065 ENSG00000183324 REC114 meiotic recombination protein REC114 chromosome 15 open reading frame 60 C15orf60, CT147, FLJ27520, FLJ36860, FLJ44083, LOC283677 Yes No Ensembl:ENSG00000183324, GeneCard:C15orf60, HGNC:HGNC:25065, ModBase:Q7Z4M0, NCBI Gene:283677, RefSeq DNA:NT_010194, RefSeq Protein:NP_001035826, RefSeq RNA:NM_001042367, UniProtKB:Q7Z4M0 No chr15 73735499 73852354 73443158 73560015 +PA162401009 9985 HGNC:16879 ENSG00000100918 REC8 meiotic recombination protein REC8 REC8 homolog (yeast) REC8L1, Rec8p, kleisin-alpha Yes No Ensembl:ENSG00000100918, GeneCard:REC8, HGNC:HGNC:16879, HumanCyc Gene:HS02165, ModBase:O95072, NCBI Gene:9985, OMIM:608193, RefSeq DNA:NT_026437, RefSeq Protein:NP_001041670, RefSeq Protein:NP_005123, RefSeq RNA:NM_001048205, RefSeq RNA:NM_005132, UniProtKB:O95072 No chr14 24641062 24649735 24171853 24180408 +PA34314 8434 HGNC:11345 ENSG00000122707 reversion inducing cysteine rich protein with kazal motifs RECK reversion-inducing-cysteine-rich protein with kazal motifs ST15, hRECK Yes No Comparative Toxicogenomics Database:8434, Ensembl:ENSG00000122707, GenAtlas:RECK, GeneCard:RECK, HGNC:HGNC:11345, HumanCyc Gene:HS04594, ModBase:O95980, NCBI Gene:8434, OMIM:605227, RefSeq DNA:NT_008413, RefSeq Protein:NP_066934, RefSeq RNA:NM_021111, UCSC Genome Browser:NM_021111, UniProtKB:A8K9D8, UniProtKB:O95980 No chr9 36036910 36124452 36036905 36124455 +PA34315 5965 HGNC:9948 ENSG00000004700 RecQ like helicase RECQL DNA helicase Q1-like, RecQ helicase-like, RecQ protein-like (DNA helicase Q1-like) RecQ1, RecQL1 Yes No Comparative Toxicogenomics Database:5965, Ensembl:ENSG00000004700, GenAtlas:RECQL, GeneCard:RECQL, HGNC:HGNC:9948, HumanCyc Gene:HS00109, ModBase:P46063, NCBI Gene:5965, OMIM:600537, RefSeq DNA:NT_009714, RefSeq Protein:NP_002898, RefSeq Protein:NP_116559, RefSeq RNA:NM_002907, RefSeq RNA:NM_032941, UCSC Genome Browser:NM_002907, UniProtKB:P46063 No chr12 21621844 21654603 21468910 21501669 +PA34316 9401 HGNC:9949 ENSG00000160957 RecQ like helicase 4 RECQL4 RecQ protein-like 4 RecQ4 Yes No Comparative Toxicogenomics Database:9401, Ensembl:ENSG00000160957, GenAtlas:RECQL4, GeneCard:RECQL4, HGNC:HGNC:9949, HumanCyc Gene:HS08556, ModBase:O94761, NCBI Gene:9401, OMIM:218600, OMIM:266280, OMIM:268400, OMIM:603780, RefSeq DNA:NG_016430, RefSeq DNA:NT_037704, RefSeq Protein:NP_004251, RefSeq RNA:NM_004260, UCSC Genome Browser:NM_004260, UniProtKB:O94761 No chr8 145736667 145743210 144511284 144517833 +PA34317 9400 HGNC:9950 ENSG00000108469 RecQ like helicase 5 RECQL5 RecQ protein 5, RecQ protein-like 5 FLJ90603, RecQ5 Yes No Comparative Toxicogenomics Database:9400, Ensembl:ENSG00000108469, GenAtlas:RECQL5, GeneCard:RECQL5, HGNC:HGNC:9950, HumanCyc Gene:HS03110, ModBase:O94762, NCBI Gene:9400, OMIM:603781, RefSeq DNA:NT_010783, RefSeq Protein:NP_001003715, RefSeq Protein:NP_001003716, RefSeq Protein:NP_004250, RefSeq RNA:NM_001003715, RefSeq RNA:NM_001003716, RefSeq RNA:NM_004259, UCSC Genome Browser:NM_004259, UniProtKB:A5YM55, UniProtKB:O94762 No chr17 73622925 73663270 75626845 75667202 +PA143485370 283461 HGNC:26846 ENSG00000180116 regulator of DNA class I crossover intermediates 1 REDIC1 chromosome 12 open reading frame 40 C12orf40, FLJ40126 Yes Yes Ensembl:ENSG00000180116, GeneCard:C12orf40, HGNC:HGNC:26846, HumanCyc Gene:HS17435, ModBase:Q86WS4, NCBI Gene:283461, RefSeq DNA:NT_029419, RefSeq Protein:NP_001026918, RefSeq RNA:NM_001031748, UniProtKB:Q86WS4 No chr12 40019972 40115716 39626167 39908300 +PA166181615 345051 HGNC:53638 ENSG00000250673 reeler domain containing 1 REELD1 Yes No Ensembl:ENSG00000250673, HGNC:HGNC:53638, NCBI Gene:345051 No 0 0 0 0 +PA134906680 65055 HGNC:25786 ENSG00000068615 receptor accessory protein 1 REEP1 receptor expression enhancing protein 1 C2orf23, FLJ13110, SPG31, Yip2a Yes No Comparative Toxicogenomics Database:65055, Ensembl:ENSG00000068615, GeneCard:REEP1, HGNC:HGNC:25786, HumanCyc Gene:HS12195, NCBI Gene:65055, OMIM:609139, OMIM:610250, RefSeq DNA:NG_013037, RefSeq DNA:NT_022184, RefSeq Protein:NP_001158202, RefSeq Protein:NP_001158203, RefSeq Protein:NP_001158204, RefSeq Protein:NP_075063, RefSeq RNA:NM_001164730, RefSeq RNA:NM_001164731, RefSeq RNA:NM_001164732, RefSeq RNA:NM_022912, UniProtKB:B7Z4D7, UniProtKB:B7Z4F2, UniProtKB:B7Z5R9, UniProtKB:Q9H902 No chr2 86441116 86565206 86213993 86338083 +PA134920985 51308 HGNC:17975 ENSG00000132563 receptor accessory protein 2 REEP2 C5orf19, SGC32445, SPG72, Yip2d Yes No Comparative Toxicogenomics Database:51308, Ensembl:ENSG00000132563, GeneCard:REEP2, HGNC:HGNC:17975, HumanCyc Gene:HS13432, NCBI Gene:51308, OMIM:609347, RefSeq DNA:NT_034772, RefSeq Protein:NP_057690, RefSeq RNA:NM_016606, UniProtKB:Q9BRK0 No chr5 137774690 137782658 138439001 138446969 +PA134863406 221035 HGNC:23711 ENSG00000165476 receptor accessory protein 3 REEP3 C10orf74, Yip2b Yes No Comparative Toxicogenomics Database:221035, Ensembl:ENSG00000165476, GeneCard:REEP3, HGNC:HGNC:23711, NCBI Gene:221035, OMIM:609348, RefSeq DNA:NT_030059, RefSeq Protein:NP_001001330, RefSeq RNA:NM_001001330, UniProtKB:Q6NUK4 No chr10 65281113 65384883 63521353 63625123 +PA134890554 80346 HGNC:26176 ENSG00000168476 receptor accessory protein 4 REEP4 C8orf20, FLJ22246, FLJ22277, PP432, Yip2c Yes No Comparative Toxicogenomics Database:80346, Ensembl:ENSG00000168476, GeneCard:REEP4, HGNC:HGNC:26176, HumanCyc Gene:HS15673, NCBI Gene:80346, OMIM:609349, RefSeq DNA:NT_167187, RefSeq Protein:NP_079508, RefSeq RNA:NM_025232, UniProtKB:Q9H6H4 No chr8 21995533 21999448 22138014 22141951 +PA134882361 7905 HGNC:30077 ENSG00000129625 receptor accessory protein 5 REEP5 deleted in polyposis 1, polyposis coli region hypothetical protein DP1, polyposis locus protein 1 C5orf18, D5S346, DP1, POB16, TB2, Yip2e Yes Yes Comparative Toxicogenomics Database:7905, Ensembl:ENSG00000129625, GeneCard:REEP5, HGNC:HGNC:30077, HumanCyc Gene:HS05300, NCBI Gene:7905, OMIM:125265, RefSeq DNA:NT_034772, RefSeq Protein:NP_005660, RefSeq RNA:NM_005669, UniProtKB:Q00765 No chr5 112212081 112258339 112876384 112922334 +PA134892881 92840 HGNC:30078 ENSG00000115255 receptor accessory protein 6 REEP6 deleted in polyposis 1-like 1, polyposis locus protein 1-like 1 C19orf32, DP1L1, FLJ25383, TB1, Yip2f Yes No Comparative Toxicogenomics Database:92840, Ensembl:ENSG00000115255, GeneCard:REEP6, HGNC:HGNC:30078, HumanCyc Gene:HS12835, ModBase:Q96HR9, NCBI Gene:92840, OMIM:609346, RefSeq DNA:NT_011255, RefSeq Protein:NP_612402, RefSeq RNA:NM_138393, UniProtKB:Q96HR9 No chr19 1491165 1497924 1491166 1497925 +PA34318 5967 HGNC:9951 ENSG00000115386 regenerating family member 1 alpha REG1A pancreatic stone protein, pancreatic thread protein, regenerating islet-derived 1 alpha PSP, PSPS, PSPS1, PTP, REG Yes No Ensembl:ENSG00000115386, GenAtlas:REG1A, GeneCard:REG1A, HGNC:HGNC:9951, HumanCyc Gene:HS03882, ModBase:P05451, NCBI Gene:5967, OMIM:167770, RefSeq DNA:NG_023271, RefSeq DNA:NT_022184, RefSeq Protein:NP_002900, RefSeq RNA:NM_002909, UCSC Genome Browser:NM_002909, UniProtKB:A8K7G6, UniProtKB:P05451, UniProtKB:Q4ZG28 No chr2 79347584 79350545 79120458 79123419 +PA34319 5968 HGNC:9952 ENSG00000172023 regenerating family member 1 beta REG1B lithostathine 1 beta, regenerating islet-derived 1 beta, secretory pancreatic stone protein 2 PSPS2, REGH, REGI-BETA, REGL Yes No Ensembl:ENSG00000172023, GenAtlas:REG1B, GeneCard:REG1B, HGNC:HGNC:9952, HumanCyc Gene:HS10437, ModBase:P48304, NCBI Gene:5968, OMIM:167771, RefSeq DNA:NT_022184, RefSeq Protein:NP_006498, RefSeq RNA:NM_006507, UCSC Genome Browser:NM_006507, UniProtKB:P48304, UniProtKB:Q6ICS1 No chr2 79312149 79315150 79085023 79088024 +PA32931 5068 HGNC:8601 ENSG00000172016 regenerating family member 3 alpha REG3A regenerating islet-derived 3 alpha HIP, PAP, PAP1, PBCGF, REG-III, REG3 Yes No Comparative Toxicogenomics Database:5068, Ensembl:ENSG00000172016, GenAtlas:REG3A, GeneCard:REG3A, HGNC:HGNC:8601, HumanCyc Gene:HS10434, ModBase:Q06141, NCBI Gene:5068, OMIM:167805, RefSeq DNA:NT_022184, RefSeq Protein:NP_002571, RefSeq Protein:NP_620354, RefSeq Protein:NP_620355, RefSeq RNA:NM_002580, RefSeq RNA:NM_138937, RefSeq RNA:NM_138938, UCSC Genome Browser:NM_002580, UniProtKB:Q06141, UniProtKB:Q53S56 No chr2 79384132 79386880 79157006 79159754 +PA142671087 130120 HGNC:29595 ENSG00000143954 regenerating family member 3 gamma REG3G regenerating islet-derived 3 gamma LPPM429, PAP1B, UNQ429 Yes No Comparative Toxicogenomics Database:130120, Ensembl:ENSG00000143954, GeneCard:REG3G, HGNC:HGNC:29595, ModBase:Q6UW15, NCBI Gene:130120, OMIM:609933, RefSeq DNA:NT_022184, RefSeq Protein:NP_001008388, RefSeq Protein:NP_940850, RefSeq RNA:NM_001008387, RefSeq RNA:NM_198448, UniProtKB:Q6UW15 No chr2 79252812 79255630 79025686 79028504 +PA134888932 83998 HGNC:22977 ENSG00000134193 regenerating family member 4 REG4 """gastrointestinal secretory protein"", ""regenerating gene type IV"", ""regenerating islet-derived family, member 4""" GISP, REG-IV, RELP Yes No Ensembl:ENSG00000134193, GeneCard:REG4, HGNC:HGNC:22977, HumanCyc Gene:HS05828, ModBase:Q9BYZ8, NCBI Gene:83998, OMIM:609846, RefSeq DNA:NT_032977, RefSeq Protein:NP_001152824, RefSeq Protein:NP_001152825, RefSeq Protein:NP_114433, RefSeq RNA:NM_001159352, RefSeq RNA:NM_001159353, RefSeq RNA:NM_032044, UniProtKB:Q9BYZ8 No chr1 120336641 120354203 119794018 119811580 +PA34321 5966 HGNC:9954 ENSG00000162924 REL proto-oncogene, NF-kB subunit REL v-rel avian reticuloendotheliosis viral oncogene homolog, v-rel reticuloendotheliosis viral oncogene homolog (avian) HIVEN86A, I-Rel, c-Rel Yes Yes Comparative Toxicogenomics Database:5966, Ensembl:ENSG00000162924, GenAtlas:REL, GeneCard:REL, HGNC:HGNC:9954, HumanCyc Gene:HS08759, ModBase:Q04864, NCBI Gene:5966, OMIM:164910, RefSeq DNA:NT_022184, RefSeq Protein:NP_002899, RefSeq RNA:NM_002908, UCSC Genome Browser:NM_002908, UniProtKB:Q04864 No chr2 61108709 61171410 60881495 60928171 +PA296 5970 HGNC:9955 ENSG00000173039 RELA proto-oncogene, NF-kB subunit RELA v-rel avian reticuloendotheliosis viral oncogene homolog A, v-rel reticuloendotheliosis viral oncogene homolog A (avian) NFKB3, p65 Yes Yes Comparative Toxicogenomics Database:5970, Ensembl:ENSG00000173039, GenAtlas:RELA, GeneCard:RELA, HGNC:HGNC:9955, HumanCyc Gene:HS10609, ModBase:Q04206, NCBI Gene:5970, OMIM:164014, RefSeq DNA:NT_167190, RefSeq Protein:NP_001138610, RefSeq Protein:NP_068810, RefSeq RNA:NM_001145138, RefSeq RNA:NM_021975, UCSC Genome Browser:NM_021975, UniProtKB:Q04206 No chr11 65421067 65430443 65653596 65662972 +PA34322 5971 HGNC:9956 ENSG00000104856 RELB proto-oncogene, NF-kB subunit RELB v-rel avian reticuloendotheliosis viral oncogene homolog B, v-rel reticuloendotheliosis viral oncogene homolog B REL-B Yes No Comparative Toxicogenomics Database:5971, Ensembl:ENSG00000104856, GenAtlas:RELB, GeneCard:RELB, HGNC:HGNC:9956, HumanCyc Gene:HS02635, ModBase:Q01201, NCBI Gene:5971, OMIM:604758, RefSeq DNA:NT_011109, RefSeq Protein:NP_006500, RefSeq RNA:NM_006509, UCSC Genome Browser:NM_006509, UniProtKB:Q01201 No chr19 45504707 45541456 45001449 45038198 +PA134865247 57614 HGNC:29289 ENSG00000134444 RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing RELCH FLJ33841, HsT3308, HsT885, KIAA1468 Yes No Ensembl:ENSG00000134444, GeneCard:KIAA1468, HGNC:HGNC:29289, HumanCyc Gene:HS13529, ModBase:Q9P260, NCBI Gene:57614, RefSeq DNA:NT_025028, RefSeq Protein:NP_065905, RefSeq RNA:NM_020854, UniProtKB:Q96ES0, UniProtKB:Q9P260 No chr18 59854506 59974355 62187244 62307122 +PA162401054 768211 HGNC:27379 ENSG00000181826 RELT like 1 RELL1 RELT-like 1 Yes No Ensembl:ENSG00000181826, GeneCard:RELL1, HGNC:HGNC:27379, ModBase:Q8IUW5, NCBI Gene:768211, OMIM:611212, RefSeq DNA:NT_016297, RefSeq Protein:NP_001078868, RefSeq Protein:NP_001078869, RefSeq RNA:NM_001085399, RefSeq RNA:NM_001085400, UniProtKB:Q8IUW5 No chr4 37592422 37687999 37590800 37686377 +PA162401073 285613 HGNC:26902 ENSG00000164620 RELT like 2 RELL2 RELT-like 2 C5orf16, FLJ90583 Yes No Ensembl:ENSG00000164620, GeneCard:RELL2, HGNC:HGNC:26902, HumanCyc Gene:HS15220, NCBI Gene:285613, OMIM:611213, RefSeq DNA:NT_029289, RefSeq Protein:NP_001123501, RefSeq Protein:NP_776189, RefSeq RNA:NM_001130029, RefSeq RNA:NM_173828, UniProtKB:Q8NC24 No chr5 141016517 141020918 141636946 141641077 +PA34323 5649 HGNC:9957 ENSG00000189056 reelin RELN PRO1598, RL Yes Yes Comparative Toxicogenomics Database:5649, Ensembl:ENSG00000189056, GenAtlas:RELN, GeneCard:RELN, HGNC:HGNC:9957, NCBI Gene:5649, OMIM:257320, OMIM:600514, RefSeq DNA:NG_011877, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_005036, RefSeq Protein:NP_774959, RefSeq RNA:NM_005045, RefSeq RNA:NM_173054, UCSC Genome Browser:NM_005045, UniProtKB:P78509 No chr7 103112231 103629963 103471784 103989516 +PA162401092 84957 HGNC:13764 ENSG00000054967 RELT TNF receptor RELT """RELT tumor necrosis factor receptor"", ""RELT, TNF receptor"", ""receptor expressed in lymphoid tissues""" FLJ14993, TNFRSF19L Yes No Ensembl:ENSG00000054967, GeneCard:RELT, HGNC:HGNC:13764, HumanCyc Gene:HS00677, ModBase:Q969Z4, NCBI Gene:84957, OMIM:611211, RefSeq DNA:NT_167190, RefSeq Protein:NP_116260, RefSeq Protein:NP_689408, RefSeq RNA:NM_032871, RefSeq RNA:NM_152222, UniProtKB:Q969Z4 No chr11 73087405 73108519 73376360 73397474 +PA34324 28954 HGNC:15922 ENSG00000088320 RRAD and GEM like GTPase 1 REM1 GTPase GES, RAS (RAD and GEM)-like GTP-binding 1 GES, REM Yes No Ensembl:ENSG00000088320, GenAtlas:REM1, GeneCard:REM1, HGNC:HGNC:15922, HumanCyc Gene:HS01598, ModBase:O75628, NCBI Gene:28954, OMIM:610388, RefSeq DNA:NT_011362, RefSeq Protein:NP_054731, RefSeq RNA:NM_014012, UCSC Genome Browser:NM_014012, UniProtKB:O75628 No chr20 30063091 30072708 31475273 31484905 +PA134916581 161253 HGNC:20248 ENSG00000139890 RRAD and GEM like GTPase 2 REM2 RAS (RAD and GEM)-like GTP binding 2 FLJ38964 Yes No Ensembl:ENSG00000139890, GeneCard:REM2, HGNC:HGNC:20248, HumanCyc Gene:HS06666, ModBase:Q8IYK8, NCBI Gene:161253, RefSeq DNA:NT_026437, RefSeq Protein:NP_775798, RefSeq RNA:NM_173527, UniProtKB:Q8IYK8 No chr14 23352374 23356889 22883165 22887680 +PA297 5972 HGNC:9958 ENSG00000143839 renin REN Yes Yes Comparative Toxicogenomics Database:5972, Ensembl:ENSG00000143839, GenAtlas:REN, GeneCard:REN, HGNC:HGNC:9958, HumanCyc Gene:HS07113, ModBase:P00797, NCBI Gene:5972, OMIM:179820, OMIM:267430, OMIM:613092, RefSeq DNA:NG_012122, RefSeq DNA:NT_004487, RefSeq Protein:NP_000528, RefSeq RNA:NM_000537, UCSC Genome Browser:NM_000537, UniProtKB:P00797 No chr1 204123944 204135465 204154816 204166337 +PA34325 5973 HGNC:9959 ENSG00000102032 renin binding protein RENBP GlcNAc 2-epimerase, N-acetyl-D-glucosamine 2-epimerase, N-acylglucosamine 2-epimerase RBP, RNBP Yes No Comparative Toxicogenomics Database:5973, Ensembl:ENSG00000102032, GenAtlas:RENBP, GeneCard:RENBP, HGNC:HGNC:9959, HumanCyc Gene:HS02337, ModBase:P51606, NCBI Gene:5973, OMIM:312420, RefSeq DNA:NG_012522, RefSeq DNA:NT_167198, RefSeq Protein:NP_002901, RefSeq RNA:NM_002910, UCSC Genome Browser:NM_002910, UniProtKB:P51606 No chrX 153200722 153210232 153935263 153944780 +PA165513308 387849 HGNC:33748 ENSG00000174236 RAB15 effector protein REP15 RAB15EP Yes No Ensembl:ENSG00000174236, GeneCard:REP15, HGNC:HGNC:33748, NCBI Gene:387849, OMIM:610848, RefSeq DNA:NT_009714, RefSeq Protein:NP_001025045, RefSeq RNA:NM_001029874 No chr12 27849428 27850566 27696495 27697633 +PA134933473 29803 HGNC:17922 ENSG00000214022 replication initiator 1 REPIN1 replication initiation region protein (60kD), zinc finger protein 464 (RIP60), zinc finger protein AP4 AP4, H_DJ0584D14.12, RIP60, ZNF464, Zfp464 Yes No Comparative Toxicogenomics Database:29803, Ensembl:ENSG00000214022, GeneCard:REPIN1, HGNC:HGNC:17922, ModBase:Q9BWE0, NCBI Gene:29803, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001093165, RefSeq Protein:NP_001093166, RefSeq Protein:NP_037532, RefSeq Protein:NP_055189, RefSeq RNA:NM_001099695, RefSeq RNA:NM_001099696, RefSeq RNA:NM_013400, RefSeq RNA:NM_014374, UniProtKB:Q9BWE0 No chr7 150065361 150071133 150368228 150374044 +PA34329 85021 HGNC:15578 ENSG00000135597 RALBP1 associated Eps domain containing 1 REPS1 Yes Yes Comparative Toxicogenomics Database:85021, Ensembl:ENSG00000135597, GenAtlas:REPS1, GeneCard:REPS1, HGNC:HGNC:15578, HumanCyc Gene:HS06033, ModBase:Q96D71, NCBI Gene:85021, RefSeq DNA:NT_025741, RefSeq Protein:NP_001122089, RefSeq Protein:NP_114128, RefSeq RNA:NM_001128617, RefSeq RNA:NM_031922, UCSC Genome Browser:NM_031922, UniProtKB:Q96D71 No chr6 139225620 139309419 138904015 138988282 +PA34330 9185 HGNC:9963 ENSG00000169891 RALBP1 associated Eps domain containing 2 REPS2 POB1 Yes No Comparative Toxicogenomics Database:9185, Ensembl:ENSG00000169891, GenAtlas:REPS2, GeneCard:REPS2, HGNC:HGNC:9963, HumanCyc Gene:HS10027, ModBase:Q8NFH8, NCBI Gene:9185, OMIM:300317, RefSeq DNA:NG_012557, RefSeq DNA:NT_167197, RefSeq Protein:NP_001074444, RefSeq Protein:NP_004717, RefSeq RNA:NM_001080975, RefSeq RNA:NM_004726, UCSC Genome Browser:NM_004726, UniProtKB:Q5JNZ8, UniProtKB:Q8NFH8 No chrX 16964814 17171403 16946691 17194274 +PA134901074 11079 HGNC:30309 ENSG00000157916 retention in endoplasmic reticulum sorting receptor 1 RER1 RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) Yes No Comparative Toxicogenomics Database:11079, Ensembl:ENSG00000157916, GeneCard:RER1, HGNC:HGNC:30309, HumanCyc Gene:HS08253, ModBase:O15258, NCBI Gene:11079, RefSeq DNA:NG_016128, RefSeq DNA:NT_004350, RefSeq Protein:NP_008964, RefSeq RNA:NM_007033, UniProtKB:O15258, UniProtKB:Q5T094 No chr1 2323214 2336883 2391314 2405444 +PA34332 473 HGNC:9965 ENSG00000142599 arginine-glutamic acid dipeptide repeats RERE arginine-glutamic acid dipeptide (RE) repeats, atrophin 2 ARG, ARP, ATN1L, ATN2, DNB1, KIAA0458 Yes No Comparative Toxicogenomics Database:473, Ensembl:ENSG00000142599, GenAtlas:RERE, GeneCard:RERE, HGNC:HGNC:9965, HumanCyc Gene:HS06940, ModBase:Q9P2R6, NCBI Gene:473, OMIM:605226, RefSeq DNA:NT_021937, RefSeq Protein:NP_001036146, RefSeq Protein:NP_001036147, RefSeq Protein:NP_036234, RefSeq RNA:NM_001042681, RefSeq RNA:NM_001042682, RefSeq RNA:NM_012102, UCSC Genome Browser:NM_012102, UniProtKB:Q9P2R6 No chr1 8412464 8877699 8352404 8826226 +PA165791575 HGNC:38795 arginine-glutamic acid dipeptide (RE) repeats pseudogene 1, Y-linked REREP1Y Yes No HGNC:HGNC:38795 No +PA165791576 HGNC:38796 arginine-glutamic acid dipeptide (RE) repeats pseudogene 2, Y-linked REREP2Y Yes No HGNC:HGNC:38796 No +PA34333 85004 HGNC:15980 ENSG00000134533 RAS like estrogen regulated growth inhibitor RERG RAS-like, estrogen-regulated, growth inhibitor MGC15754 Yes No Comparative Toxicogenomics Database:85004, Ensembl:ENSG00000134533, GenAtlas:RERG, GeneCard:RERG, HGNC:HGNC:15980, HumanCyc Gene:HS05881, ModBase:Q96A58, NCBI Gene:85004, OMIM:612664, RefSeq DNA:NT_009714, RefSeq Protein:NP_001177655, RefSeq Protein:NP_116307, RefSeq RNA:NM_001190726, RefSeq RNA:NM_032918, UCSC Genome Browser:NM_032918, UniProtKB:Q96A58 No chr12 15260716 15374411 15107782 15221803 +PA162401119 79785 HGNC:26213 ENSG00000111404 RERG like RERGL RERG/RAS-like FLJ22655 Yes No Ensembl:ENSG00000111404, GeneCard:RERGL, HGNC:HGNC:26213, HumanCyc Gene:HS03414, ModBase:Q9H628, NCBI Gene:79785, RefSeq DNA:NT_009714, RefSeq Protein:NP_079006, RefSeq RNA:NM_024730, UniProtKB:Q9H628 No chr12 18233803 18243139 18080869 18090193 +PA143485365 55196 HGNC:25559 ENSG00000174718 retroelement silencing factor 1 RESF1 gonad expressed transcript C12orf35, FLJ10652, FLJ20696, GET, KIAA1551, UTA2-1 Yes No Ensembl:ENSG00000174718, GeneCard:C12orf35, HGNC:HGNC:25559, HumanCyc Gene:HS16382, ModBase:Q9HCM1, NCBI Gene:55196, RefSeq DNA:NT_009714, RefSeq Protein:NP_060639, RefSeq RNA:NM_018169, UniProtKB:Q9HCM1 No chr12 32112353 32146041 31958800 31993107 +PA166049014 389075 HGNC:33762 ENSG00000182698 regulated endocrine specific protein 18 RESP18 regulated endocrine-specific protein 18 Yes No Ensembl:ENSG00000182698, HGNC:HGNC:33762, NCBI Gene:389075 No chr2 220192131 220197899 219327409 219336656 +PA34334 5978 HGNC:9966 ENSG00000084093 RE1 silencing transcription factor REST RE1-silencing transcription factor, neuron-restrictive silencer factor DFNA27, NRSF, XBR Yes No Comparative Toxicogenomics Database:5978, Ensembl:ENSG00000084093, GenAtlas:REST, GeneCard:REST, HGNC:HGNC:9966, HumanCyc Gene:HS01465, ModBase:Q13127, NCBI Gene:5978, OMIM:600571, RefSeq DNA:NT_022853, RefSeq Protein:NP_001180437, RefSeq Protein:NP_005603, RefSeq RNA:NM_001193508, RefSeq RNA:NM_005612, UCSC Genome Browser:NM_005612, UniProtKB:Q13127 No chr4 57774042 57802010 56907876 56935847 +PA34335 5979 HGNC:9967 ENSG00000165731 ret proto-oncogene RET RET receptor tyrosine kinase, cadherin-related family member 16, rearranged during transfection CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET51 Yes Yes Comparative Toxicogenomics Database:5979, Ensembl:ENSG00000165731, GenAtlas:RET, GeneCard:RET, HGNC:HGNC:9967, HumanCyc Gene:HS09276, ModBase:P07949, NCBI Gene:5979, OMIM:142623, OMIM:155240, OMIM:162300, OMIM:164761, OMIM:171300, OMIM:171400, OMIM:191830, OMIM:209880, RefSeq DNA:NG_007489, RefSeq DNA:NT_033985, RefSeq Protein:NP_065681, RefSeq Protein:NP_066124, RefSeq RNA:NM_020630, RefSeq RNA:NM_020975, UCSC Genome Browser:NM_000323, UniProtKB:P07949, UniProtKB:Q9BTB0, UniProtKB:Q9BTX6 No chr10 43572517 43625799 43077069 43130351 +PA422 56729 HGNC:20389 ENSG00000104918 resistin RETN ADSF, FIZZ3, RETN1 Yes Yes Comparative Toxicogenomics Database:56729, Ensembl:ENSG00000104918, GeneCard:RETN, HGNC:HGNC:20389, HumanCyc Gene:HS02655, ModBase:Q9HD89, NCBI Gene:56729, OMIM:125853, OMIM:605565, RefSeq DNA:NG_023447, RefSeq DNA:NT_077812, RefSeq Protein:NP_001180303, RefSeq Protein:NP_065148, RefSeq RNA:NM_001193374, RefSeq RNA:NM_020415, UCSC Genome Browser:NM_020415, UniProtKB:Q9HD89 No chr19 7733972 7735340 7669086 7670454 +PA134906814 84666 HGNC:20388 ENSG00000163515 resistin like beta RETNLB FIZZ2, HXCP2, RELMb Yes No Ensembl:ENSG00000163515, GeneCard:RETNLB, HGNC:HGNC:20388, HumanCyc Gene:HS08866, ModBase:Q9BQ08, NCBI Gene:84666, OMIM:605645, RefSeq DNA:NT_005612, RefSeq Protein:NP_115968, RefSeq RNA:NM_032579, UniProtKB:Q9BQ08 No chr3 108474486 108476130 108755639 108757283 +PA162386188 54463 HGNC:25964 ENSG00000154153 reticulophagy regulator 1 RETREG1 family with sequence similarity 134, member B FAM134B, FLJ20152, JK1 Yes No Ensembl:ENSG00000154153, GeneCard:FAM134B, HGNC:HGNC:25964, HumanCyc Gene:HS14510, ModBase:Q9H6L5, NCBI Gene:54463, OMIM:613114, OMIM:613115, RefSeq DNA:NG_016644, RefSeq DNA:NT_006576, RefSeq Protein:NP_001030022, RefSeq Protein:NP_061873, RefSeq RNA:NM_001034850, RefSeq RNA:NM_019000, UniProtKB:Q9H6L5 No chr5 16472922 16617167 16473038 16617058 +PA162386165 79137 HGNC:28450 ENSG00000144567 reticulophagy regulator family member 2 RETREG2 family with sequence similarity 134, member A C2orf17, FAM134A, MAG-2, MGC3035 Yes No Ensembl:ENSG00000144567, GeneCard:FAM134A, HGNC:HGNC:28450, HumanCyc Gene:HS14036, NCBI Gene:79137, RefSeq DNA:NT_005403, RefSeq Protein:NP_077269, RefSeq RNA:NM_024293, UniProtKB:Q8NC44 No chr2 220042939 220050197 219178190 219185475 +PA162386207 162427 HGNC:27258 ENSG00000141699 reticulophagy regulator family member 3 RETREG3 family with sequence similarity 134, member C DKFZp686B1036, FAM134C, FLJ33806 Yes No Ensembl:ENSG00000141699, GeneCard:FAM134C, HGNC:HGNC:27258, ModBase:Q86VR2, NCBI Gene:162427, RefSeq DNA:NT_010783, RefSeq Protein:NP_835227, RefSeq RNA:NM_178126, RefSeq RNA:NR_026697, UniProtKB:Q86VR2 No chr17 40731526 40761445 42579508 42609427 +PA145007867 54884 HGNC:25991 ENSG00000042445 retinol saturase RETSAT """all-trans-retinol 13,14-reductase"", ""retinol saturase (all-trans-retinol 13,14-reductase)""" FLJ20296 Yes No Comparative Toxicogenomics Database:54884, Ensembl:ENSG00000042445, GeneCard:RETSAT, HGNC:HGNC:25991, HumanCyc Gene:HS00560, ModBase:Q6NUM9, NCBI Gene:54884, RefSeq DNA:NT_022184, RefSeq Protein:NP_060220, RefSeq RNA:NM_017750, UniProtKB:Q6NUM9 No chr2 85569078 85581821 85341955 85354698 +PA162401120 51455 HGNC:14060 ENSG00000135945 REV1 DNA directed polymerase REV1 """REV1, DNA directed polymerase"", ""REV1, polymerase (DNA directed)""" REV1L Yes Yes Ensembl:ENSG00000135945, GeneCard:REV1, HGNC:HGNC:14060, HumanCyc Gene:HS06091, ModBase:Q9UBZ9, NCBI Gene:51455, OMIM:606134, RefSeq DNA:NT_022171, RefSeq Protein:NP_001032961, RefSeq Protein:NP_057400, RefSeq RNA:NM_001037872, RefSeq RNA:NM_016316, UniProtKB:Q9UBZ9 No chr2 100016938 100106480 99400475 99490123 +PA34337 5980 HGNC:9968 ENSG00000009413 REV3 like, DNA directed polymerase zeta catalytic subunit REV3L """REV3-like, polymerase (DNA directed), zeta, catalytic subunit"", ""polymerase, DNA, zeta""" POLZ, REV3 Yes Yes Comparative Toxicogenomics Database:5980, Ensembl:ENSG00000009413, GenAtlas:REV3L, GeneCard:REV3L, HGNC:HGNC:9968, HumanCyc Gene:HS00262, ModBase:O60673, NCBI Gene:5980, OMIM:602776, RefSeq DNA:NT_025741, RefSeq Protein:NP_002903, RefSeq RNA:NM_002912, UCSC Genome Browser:NM_002912, UniProtKB:O60673 No chr6 111620234 111804421 111299031 111483715 +PA162378719 55049 HGNC:26098 ENSG00000006015 required for excision 1-B domain containing REX1BD chromosome 19 open reading frame 60 C19orf60, FLJ20850, FLJ30108, FLJ34606, FLJ37391 Yes No Ensembl:ENSG00000006015, GeneCard:C19orf60, HGNC:HGNC:26098, HumanCyc Gene:HS12008, ModBase:Q96EN9, NCBI Gene:55049, RefSeq DNA:NT_011295, RefSeq Protein:NP_001093888, RefSeq Protein:NP_001093889, RefSeq RNA:NM_001100418, RefSeq RNA:NM_001100419, UniProtKB:Q96EN9 No chr19 18699495 18703147 18588685 18592337 +PA142671077 57455 HGNC:24616 ENSG00000079313 RNA exonuclease 1 homolog REXO1 """REX1, RNA exonuclease 1 homolog (S. cerevisiae)"", ""elongin A binding protein 1""" EloA-BP1, KIAA1138, TCEB3BP1 Yes No Comparative Toxicogenomics Database:57455, Ensembl:ENSG00000079313, GeneCard:REXO1, HGNC:HGNC:24616, HumanCyc Gene:HS01320, ModBase:Q8N1G1, NCBI Gene:57455, OMIM:609614, RefSeq DNA:NT_011255, RefSeq Protein:NP_065746, RefSeq RNA:NM_020695, UniProtKB:Q8N1G1 No chr19 1815245 1848520 1815246 1848684 +PA142671079 100288527 HGNC:32239 ENSG00000276998 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2, pseudogene REXO1L2P Yes No Ensembl:ENSG00000276998, HGNC:HGNC:32239, NCBI Gene:100288527, RefSeq DNA:NT_008046, RefSeq Protein:XP_002342902, RefSeq RNA:NR_003594, RefSeq RNA:XM_002342861 No chr8 86787245 86788322 85775016 85776093 +PA142671080 441359 HGNC:32240 ENSG00000273567 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 3, pseudogene REXO1L3P Yes No Ensembl:ENSG00000273567, GeneCard:REXO1L3P, HGNC:HGNC:32240, NCBI Gene:441359, RefSeq DNA:NG_009316, RefSeq DNA:NT_008183 No chr8 86556617 86568889 85654577 85656660 +PA142671081 653042 HGNC:32241 ENSG00000270416 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 4, pseudogene REXO1L4P Yes No Ensembl:ENSG00000270416, GeneCard:REXO1L4P, HGNC:HGNC:32241, NCBI Gene:653042, RefSeq DNA:NG_007182, RefSeq DNA:NT_008046 No chr8 86814747 86816774 85802323 85803458 +PA142671082 107986879 HGNC:32242 ENSG00000277436 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 5, pseudogene REXO1L5P Yes No Ensembl:ENSG00000277436, GeneCard:REXO1L5P, HGNC:HGNC:32242, NCBI Gene:107986879, RefSeq DNA:NG_009317, RefSeq DNA:NT_008046 No chr8 +PA142671083 441362 HGNC:32243 ENSG00000277422 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 6, pseudogene REXO1L6P REXO1L7P Yes No Ensembl:ENSG00000277422, GeneCard:REXO1L6P, HGNC:HGNC:32243, NCBI Gene:441362, RefSeq DNA:NG_016769 No chr8 86839094 86840171 85826704 85827839 +PA142671085 25996 HGNC:17851 ENSG00000076043 RNA exonuclease 2 REXO2 REX2, RNA exonuclease 2 homolog (S. cerevisiae) CGI-114, DKFZP566E144, SFN Yes No Comparative Toxicogenomics Database:25996, Ensembl:ENSG00000076043, GeneCard:REXO2, HGNC:HGNC:17851, HumanCyc Gene:HS01197, ModBase:Q9Y3B8, NCBI Gene:25996, OMIM:607149, RefSeq DNA:NT_033899, RefSeq Protein:NP_056338, RefSeq RNA:NM_015523, UniProtKB:B2R532, UniProtKB:Q9Y3B8 No chr11 114310108 114321001 114439386 114450279 +PA37414 57109 HGNC:12820 ENSG00000148300 REX4 homolog, 3'-5' exonuclease REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae) XPMC2H, hPMC2 Yes No Ensembl:ENSG00000148300, GenAtlas:REXO4, GeneCard:REXO4, HGNC:HGNC:12820, HumanCyc Gene:HS07510, ModBase:Q9GZR2, NCBI Gene:57109, OMIM:602930, RefSeq DNA:NT_035014, RefSeq Protein:NP_065118, RefSeq RNA:NM_020385, UCSC Genome Browser:NM_020385, UniProtKB:Q9GZR2 No chr9 136271182 136283292 133406058 133418172 +PA166181616 81691 HGNC:24661 ENSG00000005189 RNA exonuclease 5 REXO5 NEF-sp Yes No Ensembl:ENSG00000005189, HGNC:HGNC:24661, NCBI Gene:81691 No 0 0 0 0 +PA34338 5981 HGNC:9969 ENSG00000035928 replication factor C subunit 1 RFC1 replication factor C (activator 1) 1, 145kDa A1, MHCBFB, PO-GA, RFC140 Yes No Comparative Toxicogenomics Database:5981, Ensembl:ENSG00000035928, GenAtlas:RFC1, GeneCard:RFC1, HGNC:HGNC:9969, HumanCyc Gene:HS00513, ModBase:P35251, NCBI Gene:5981, OMIM:102579, RefSeq DNA:NT_016297, RefSeq Protein:NP_001191676, RefSeq Protein:NP_002904, RefSeq RNA:NM_001204747, RefSeq RNA:NM_002913, UCSC Genome Browser:NM_002913, UniProtKB:P35251 No chr4 39289069 39368001 39287449 39366381 +PA34339 5982 HGNC:9970 ENSG00000049541 replication factor C subunit 2 RFC2 """activator 1"", ""replication factor C (activator 1) 2, 40kDa""" A1, RFC40 Yes No Comparative Toxicogenomics Database:5982, Ensembl:ENSG00000049541, GenAtlas:RFC2, GeneCard:RFC2, HGNC:HGNC:9970, HumanCyc Gene:HS00624, ModBase:P35250, NCBI Gene:5982, OMIM:600404, RefSeq DNA:NG_008102, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_002905, RefSeq Protein:NP_852136, RefSeq RNA:NM_002914, RefSeq RNA:NM_181471, UCSC Genome Browser:NM_002914, UniProtKB:P35250, UniProtKB:Q75MT5 No chr7 73645832 73668788 74231502 74254458 +PA34340 5983 HGNC:9971 ENSG00000133119 replication factor C subunit 3 RFC3 """A1 38 kDa subunit"", ""RFC, 38 kD subunit"", ""replication factor C (activator 1) 3, 38kDa""" MGC5276, RFC38 Yes No Comparative Toxicogenomics Database:5983, Ensembl:ENSG00000133119, GenAtlas:RFC3, GeneCard:RFC3, HGNC:HGNC:9971, HumanCyc Gene:HS05740, ModBase:P40938, NCBI Gene:5983, OMIM:600405, RefSeq DNA:NT_024524, RefSeq Protein:NP_002906, RefSeq Protein:NP_853536, RefSeq RNA:NM_002915, RefSeq RNA:NM_181558, UCSC Genome Browser:NM_002915, UniProtKB:C9JU95, UniProtKB:P40938 No chr13 34392206 34540695 33818049 33973946 +PA34341 5984 HGNC:9972 ENSG00000163918 replication factor C subunit 4 RFC4 """A1 37 kDa subunit"", ""RFC 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""replication factor C (activator 1) 4, 37kDa""" A1, RFC37 Yes No Comparative Toxicogenomics Database:5984, Ensembl:ENSG00000163918, GenAtlas:RFC4, GeneCard:RFC4, HGNC:HGNC:9972, HumanCyc Gene:HS08965, ModBase:P35249, NCBI Gene:5984, OMIM:102577, RefSeq DNA:NT_005612, RefSeq Protein:NP_002907, RefSeq Protein:NP_853551, RefSeq RNA:NM_002916, RefSeq RNA:NM_181573, UCSC Genome Browser:NM_002916, UniProtKB:P35249 No chr3 186507681 186524484 186789892 186806695 +PA34342 5985 HGNC:9973 ENSG00000111445 replication factor C subunit 5 RFC5 replication factor C (activator 1) 5, 36.5kDa RFC36 Yes No Comparative Toxicogenomics Database:5985, Ensembl:ENSG00000111445, GenAtlas:RFC5, GeneCard:RFC5, HGNC:HGNC:9973, HumanCyc Gene:HS03418, ModBase:P40937, NCBI Gene:5985, OMIM:600407, RefSeq DNA:NT_009775, RefSeq Protein:NP_001123584, RefSeq Protein:NP_001123585, RefSeq Protein:NP_001193730, RefSeq Protein:NP_031396, RefSeq Protein:NP_853556, RefSeq RNA:NM_001130112, RefSeq RNA:NM_001130113, RefSeq RNA:NM_001206801, RefSeq RNA:NM_007370, RefSeq RNA:NM_181578, UCSC Genome Browser:NM_007370, UniProtKB:A8MZ62, UniProtKB:P40937 No chr12 118454506 118470044 118016701 118033568 +PA162401171 317671 HGNC:29587 ENSG00000175449 Rieske Fe-S domain containing RFESD Rieske (Fe-S) domain containing Yes No Ensembl:ENSG00000175449, GeneCard:RFESD, HGNC:HGNC:29587, ModBase:Q8TAC1, NCBI Gene:317671, RefSeq DNA:NT_034772, RefSeq Protein:NP_001124537, RefSeq Protein:NP_001124538, RefSeq Protein:NP_775498, RefSeq RNA:NM_001131065, RefSeq RNA:NM_001131066, RefSeq RNA:NM_173362, UniProtKB:Q8TAC1 No chr5 94982471 94992849 95646744 95658082 +PA142671086 117584 HGNC:24821 ENSG00000092871 ring finger and FYVE like domain containing E3 ubiquitin protein ligase RFFL caspase 8 and 10 associated RING protein-2, ring finger and FYVE-like domain containing E3 ubiquitin protein ligase CARP-2, CARP2, RNF189, RNF34L, fring, rififylin Yes No Comparative Toxicogenomics Database:117584, Ensembl:ENSG00000092871, GeneCard:RFFL, HGNC:HGNC:24821, HumanCyc Gene:HS01783, ModBase:Q8WZ73, NCBI Gene:117584, OMIM:609735, RefSeq DNA:NT_010799, RefSeq Protein:NP_001017368, RefSeq Protein:NP_476519, RefSeq RNA:NM_001017368, RefSeq RNA:NM_057178, RefSeq RNA:NR_037713, UniProtKB:Q8WZ73 No chr17 33336131 33416348 35009112 35089329 +PA134916697 55312 HGNC:30324 ENSG00000135002 riboflavin kinase RFK FLJ11149, RIFK Yes Yes Comparative Toxicogenomics Database:55312, Ensembl:ENSG00000135002, GeneCard:RFK, HGNC:HGNC:30324, HumanCyc Gene:HS05938, ModBase:Q969G6, NCBI Gene:55312, OMIM:613010, RefSeq DNA:NT_008470, RefSeq Protein:NP_060809, RefSeq RNA:NM_018339, UniProtKB:Q969G6 No chr9 79000433 79009444 76385517 76394528 +PA143485462 144347 HGNC:27051 ENSG00000178882 refilin A RFLNA family with sequence similarity 101, member A Cfm2, FAM101A, FLJ44614, RefilinA Yes No Ensembl:ENSG00000178882, GeneCard:FAM101A, HGNC:HGNC:27051, NCBI Gene:144347, RefSeq DNA:NT_009755, RefSeq Protein:NP_859060, RefSeq RNA:NM_181709, UniProtKB:Q6ZTI6 No chr12 124773710 124800570 124289164 124316024 +PA143485463 359845 HGNC:28705 ENSG00000183688 refilin B RFLNB family with sequence similarity 101, member B Cfm1, FAM101B, MGC45871, RefilinB Yes No Comparative Toxicogenomics Database:359845, Ensembl:ENSG00000183688, GeneCard:FAM101B, HGNC:HGNC:28705, ModBase:Q8N5W9, NCBI Gene:359845, RefSeq DNA:NT_024972, RefSeq Protein:NP_874364, RefSeq RNA:NM_182705, UniProtKB:Q8N5W9 No chr17 289769 295731 439978 445940 +PA34343 5986 HGNC:9974 ENSG00000169733 RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase RFNG Yes No Ensembl:ENSG00000169733, GenAtlas:RFNG, GeneCard:RFNG, HGNC:HGNC:9974, HumanCyc Gene:HS09998, ModBase:Q9Y644, NCBI Gene:5986, OMIM:602578, RefSeq DNA:NT_010663, RefSeq Protein:NP_002908, RefSeq RNA:NM_002917, UniProtKB:Q8N9R1, UniProtKB:Q9Y644 No chr17 80005778 80009650 82047902 82051774 +PA34346 5988 HGNC:9977 ENSG00000128250 ret finger protein like 1 RFPL1 ret finger protein-like 1 RNF78 Yes No Ensembl:ENSG00000128250, GenAtlas:RFPL1, GeneCard:RFPL1, HGNC:HGNC:9977, HumanCyc Gene:HS13251, ModBase:O75677, NCBI Gene:5988, OMIM:605968, RefSeq DNA:NT_011520, RefSeq Protein:NP_066306, RefSeq RNA:NM_021026, UCSC Genome Browser:NM_021026, UniProtKB:O75677 No chr22 29834572 29838444 29403031 29442491 +PA34347 10740 HGNC:9978 ENSG00000225465 RFPL1 antisense RNA 1 RFPL1S non-protein coding RNA 6 NCRNA00006, RFPL1-AS Yes No Ensembl:ENSG00000225465, GenAtlas:RFPL1S, GeneCard:RFPL1S, HGNC:HGNC:9978, NCBI Gene:10740, OMIM:605972, RefSeq DNA:NT_011520, RefSeq RNA:NR_002727 No chr22 29833004 29838118 29437015 29442129 +PA34348 10739 HGNC:9979 ENSG00000128253 ret finger protein like 2 RFPL2 ret finger protein-like 2 RNF79 Yes No Ensembl:ENSG00000128253, GenAtlas:RFPL2, GeneCard:RFPL2, HGNC:HGNC:9979, HumanCyc Gene:HS05166, ModBase:O75678, NCBI Gene:10739, OMIM:605969, RefSeq DNA:NT_011520, RefSeq Protein:NP_001091997, RefSeq Protein:NP_001153017, RefSeq Protein:NP_001153018, RefSeq Protein:NP_006596, RefSeq RNA:NM_001098527, RefSeq RNA:NM_001159545, RefSeq RNA:NM_001159546, RefSeq RNA:NM_006605, UCSC Genome Browser:NM_006605, UniProtKB:O75678 No chr22 32586422 32603223 32190435 32204844 +PA34349 10738 HGNC:9980 ENSG00000128276 ret finger protein like 3 RFPL3 ret finger protein-like 3 RNF120 Yes No Ensembl:ENSG00000128276, GenAtlas:RFPL3, GeneCard:RFPL3, HGNC:HGNC:9980, HumanCyc Gene:HS05172, ModBase:O75679, NCBI Gene:10738, OMIM:605970, RefSeq DNA:NT_011520, RefSeq Protein:NP_001092005, RefSeq Protein:NP_006595, RefSeq RNA:NM_001098535, RefSeq RNA:NM_006604, UCSC Genome Browser:NM_006604, UniProtKB:A2A279, UniProtKB:O75679, UniProtKB:Q8N5R4 No chr22 32750872 32757148 32354885 32361161 +PA34350 10737 HGNC:9981 ENSG00000205853 RFPL3 antisense RFPL3S non-protein coding RNA 5 NCRNA00005, RFPL3-AS Yes No Ensembl:ENSG00000205853, GenAtlas:RFPL3S, GeneCard:RFPL3S, HGNC:HGNC:9981, NCBI Gene:10737, OMIM:605971, RefSeq DNA:NT_011520, RefSeq RNA:NR_001450, RefSeq RNA:NR_002596 No chr22 32755893 32767063 32359906 32371264 +PA162401186 342931 HGNC:16449 ENSG00000223638 ret finger protein like 4A RFPL4A ret finger protein-like 4A RFPL4, RNF210 Yes No Ensembl:ENSG00000223638, GeneCard:RFPL4A, HGNC:HGNC:16449, NCBI Gene:342931, OMIM:612601, RefSeq DNA:NT_011109, RefSeq Protein:NP_001138486, RefSeq RNA:NM_001145014, UniProtKB:A6NLU0 No chr19 56270507 56274541 55757298 55763388 +PA166049157 729974 HGNC:45147 ENSG00000229292 ret finger protein like 4A like 1 RFPL4AL1 ret finger protein-like 4A-like 1 RNF210B Yes No Ensembl:ENSG00000229292, HGNC:HGNC:45147, NCBI Gene:729974 No chr19 56283171 56284545 55769118 55773423 +PA162401195 442247 HGNC:33264 ENSG00000251258 ret finger protein like 4B RFPL4B ret finger protein-like 4B RNF211 Yes Yes Ensembl:ENSG00000251258, GeneCard:RFPL4B, HGNC:HGNC:33264, ModBase:Q6ZWI9, NCBI Gene:442247, RefSeq DNA:NT_025741, RefSeq Protein:NP_001013756, RefSeq RNA:NM_001013734, UniProtKB:Q6ZWI9 No chr6 112668532 112672498 112309755 112351480 +PA134960002 91869 HGNC:30220 ENSG00000163933 RFT1 homolog RFT1 RFT1 homolog (S. cerevisiae), congenital disorder of glycosylation 1N CDG1N Yes No Comparative Toxicogenomics Database:91869, Ensembl:ENSG00000163933, GeneCard:RFT1, HGNC:HGNC:30220, HumanCyc Gene:HS08970, ModBase:Q96AA3, NCBI Gene:91869, OMIM:611908, OMIM:612015, RefSeq DNA:NG_009203, RefSeq DNA:NT_022517, RefSeq Protein:NP_443091, RefSeq RNA:NM_052859, UniProtKB:Q96AA3 No chr3 53122499 53164480 53071151 53130469 +PA162401206 23180 HGNC:30278 ENSG00000131378 raftlin, lipid raft linker 1 RFTN1 raft-linking protein FLJ23866, KIAA0084, MIG2, Raftlin Yes No Ensembl:ENSG00000131378, GeneCard:RFTN1, HGNC:HGNC:30278, ModBase:Q14699, NCBI Gene:23180, RefSeq DNA:NT_022517, RefSeq Protein:NP_055965, RefSeq RNA:NM_015150, UniProtKB:Q14699, UniProtKB:Q8N5I0 No chr3 16357352 16555222 16315845 16513715 +PA162401231 130132 HGNC:26402 ENSG00000162944 raftlin family member 2 RFTN2 C2orf11, FLJ30574, Raftlin-2 Yes No Ensembl:ENSG00000162944, GeneCard:RFTN2, HGNC:HGNC:26402, HumanCyc Gene:HS14991, NCBI Gene:130132, RefSeq DNA:NT_005403, RefSeq Protein:NP_653230, RefSeq RNA:NM_144629, UniProtKB:Q52LD8 No chr2 198435524 198540774 197568224 197676050 +PA134960063 55159 HGNC:25539 ENSG00000168411 ring finger and WD repeat domain 3 RFWD3 FANCW, FLJ10520, RNF201 Yes No Ensembl:ENSG00000168411, GeneCard:RFWD3, HGNC:HGNC:25539, HumanCyc Gene:HS15669, ModBase:Q6PCD5, NCBI Gene:55159, RefSeq DNA:NT_010498, RefSeq Protein:NP_060594, RefSeq RNA:NM_018124, UniProtKB:Q6PCD5 No chr16 74655297 74700779 74621396 74666892 +PA34352 5989 HGNC:9982 ENSG00000132005 regulatory factor X1 RFX1 """MHC class II regulatory factor RFX"", ""enhancer factor C"", ""regulatory factor X, 1 (influences HLA class II expression)"", ""trans-acting regulatory factor 1""" EF-C Yes No Comparative Toxicogenomics Database:5989, Ensembl:ENSG00000132005, GenAtlas:RFX1, GeneCard:RFX1, HGNC:HGNC:9982, HumanCyc Gene:HS05591, ModBase:P22670, NCBI Gene:5989, OMIM:600006, RefSeq DNA:NT_011295, RefSeq Protein:NP_002909, RefSeq RNA:NM_002918, UCSC Genome Browser:NM_002918, UniProtKB:P22670 No chr19 14072342 14117134 13961530 14007514 +PA34353 5990 HGNC:9983 ENSG00000087903 regulatory factor X2 RFX2 """DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"", ""regulatory factor X, 2 (influences HLA class II expression)"", ""trans-acting regulatory factor 2""" FLJ14226 Yes No Comparative Toxicogenomics Database:5990, Ensembl:ENSG00000087903, GenAtlas:RFX2, GeneCard:RFX2, HGNC:HGNC:9983, HumanCyc Gene:HS01584, ModBase:P48378, NCBI Gene:5990, OMIM:142765, RefSeq DNA:NT_011255, RefSeq Protein:NP_000626, RefSeq Protein:NP_602309, RefSeq RNA:NM_000635, RefSeq RNA:NM_134433, UCSC Genome Browser:NM_000635, UniProtKB:P48378 No chr19 5993175 6110664 5993164 6110653 +PA34354 5991 HGNC:9984 ENSG00000080298 regulatory factor X3 RFX3 regulatory factor X, 3 (influences HLA class II expression) Yes No Comparative Toxicogenomics Database:5991, Ensembl:ENSG00000080298, GenAtlas:RFX3, GeneCard:RFX3, HGNC:HGNC:9984, HumanCyc Gene:HS01353, ModBase:P48380, NCBI Gene:5991, OMIM:601337, RefSeq DNA:NT_008413, RefSeq Protein:NP_002910, RefSeq Protein:NP_602304, RefSeq RNA:NM_002919, RefSeq RNA:NM_134428, UCSC Genome Browser:NM_002919, UniProtKB:P48380 No chr9 3218297 3525992 3218297 3526001 +PA34355 5992 HGNC:9985 ENSG00000111783 regulatory factor X4 RFX4 regulatory factor X, 4 (influences HLA class II expression) Yes No Comparative Toxicogenomics Database:5992, Ensembl:ENSG00000111783, GenAtlas:RFX4, GeneCard:RFX4, HGNC:HGNC:9985, HumanCyc Gene:HS03464, NCBI Gene:5992, OMIM:603958, RefSeq DNA:NT_029419, RefSeq Protein:NP_001193620, RefSeq Protein:NP_002911, RefSeq Protein:NP_115880, RefSeq Protein:NP_998759, RefSeq RNA:NM_001206691, RefSeq RNA:NM_002920, RefSeq RNA:NM_032491, RefSeq RNA:NM_213594, UCSC Genome Browser:NM_002920, UniProtKB:B2RDW4, UniProtKB:Q33E94 No chr12 106976685 107156582 106582907 106762804 +PA34356 5993 HGNC:9986 ENSG00000143390 regulatory factor X5 RFX5 regulatory factor X, 5 (influences HLA class II expression) Yes No Comparative Toxicogenomics Database:5993, Ensembl:ENSG00000143390, GenAtlas:RFX5, GeneCard:RFX5, HGNC:HGNC:9986, HumanCyc Gene:HS07045, ModBase:P48382, NCBI Gene:5993, OMIM:209920, OMIM:601863, RefSeq DNA:NG_007576, RefSeq DNA:NT_004487, RefSeq Protein:NP_000440, RefSeq Protein:NP_001020774, RefSeq RNA:NM_000449, RefSeq RNA:NM_001025603, UCSC Genome Browser:NM_000449, UniProtKB:P48382 No chr1 151313116 151319785 151340640 151347319 +PA162401254 222546 HGNC:21478 ENSG00000185002 regulatory factor X6 RFX6 """DNA-binding protein RFX6"", ""regulatory factor X, 6""" MGC33442, RFXDC1, dJ955L16.1 Yes No Ensembl:ENSG00000185002, GeneCard:RFX6, HGNC:HGNC:21478, ModBase:Q8HWS3, NCBI Gene:222546, OMIM:612659, RefSeq DNA:NT_025741, RefSeq Protein:NP_775831, RefSeq RNA:NM_173560, UniProtKB:Q8HWS3 No chr6 117198376 117253326 116877213 116932163 +PA162401255 64864 HGNC:25777 ENSG00000181827 regulatory factor X7 RFX7 regulatory factor X, 7 FLJ12994, RFXDC2 Yes No Ensembl:ENSG00000181827, GeneCard:RFX7, HGNC:HGNC:25777, HumanCyc Gene:HS17736, ModBase:Q2KHR2, NCBI Gene:64864, OMIM:612660, RefSeq DNA:NT_010194, RefSeq Protein:NP_073752, RefSeq RNA:NM_022841, UniProtKB:Q2KHR2 No chr15 56379479 56535728 56090533 56247654 +PA165697419 731220 HGNC:37253 ENSG00000196460 regulatory factor X8 RFX8 RFX family member 8, lacking RFX DNA binding domain FLJ42986 Yes No Ensembl:ENSG00000196460, GeneCard:RFX8, HGNC:HGNC:37253, NCBI Gene:731220, RefSeq DNA:NT_022171, RefSeq Protein:NP_001139136, RefSeq RNA:NM_001145664, UniProtKB:Q6ZV50 No chr2 102013823 102091165 101397344 101475179 +PA34357 8625 HGNC:9987 ENSG00000064490 regulatory factor X associated ankyrin containing protein RFXANK DNA-binding protein RFXANK, RFX-Bdelta4, ankyrin repeat-containing regulatory factor X-associated protein, regulatory factor X subunit B, regulatory factor X-associated ankyrin-containing protein ANKRA1, BLS, F14150_1, MGC138628, RFX-B Yes No Comparative Toxicogenomics Database:8625, Ensembl:ENSG00000064490, GenAtlas:RFXANK, GeneCard:RFXANK, HGNC:HGNC:9987, HumanCyc Gene:HS00806, ModBase:O14593, NCBI Gene:8625, OMIM:209920, OMIM:603200, RefSeq DNA:NG_007432, RefSeq DNA:NT_011295, RefSeq Protein:NP_003712, RefSeq Protein:NP_604389, RefSeq RNA:NM_003721, RefSeq RNA:NM_134440, UCSC Genome Browser:NM_003721, UniProtKB:O14593 No chr19 19303008 19312678 19192199 19201869 +PA34358 5994 HGNC:9988 ENSG00000133111 regulatory factor X associated protein RFXAP regulatory factor X-associated protein Yes Yes Comparative Toxicogenomics Database:5994, Ensembl:ENSG00000133111, GenAtlas:RFXAP, GeneCard:RFXAP, HGNC:HGNC:9988, HumanCyc Gene:HS05736, ModBase:O00287, NCBI Gene:5994, OMIM:209920, OMIM:601861, RefSeq DNA:NG_007876, RefSeq DNA:NT_024524, RefSeq Protein:NP_000529, RefSeq RNA:NM_000538, UCSC Genome Browser:NM_000538, UniProtKB:O00287 No chr13 37393339 37403740 36819202 36829603 +PA134895181 28984 HGNC:20369 ENSG00000102760 regulator of cell cycle RGCC response gene to complement 32 C13orf15, RGC-32, RGC32, bA157L14.2 Yes No Ensembl:ENSG00000102760, GeneCard:C13orf15, HGNC:HGNC:20369, HumanCyc Gene:HS02409, NCBI Gene:28984, OMIM:610077, RefSeq DNA:NT_024524, RefSeq Protein:NP_054778, RefSeq RNA:NM_014059, UniProtKB:Q9H4X1 No chr13 42031542 42045013 41457406 41470877 +PA134934636 23179 HGNC:30281 ENSG00000143344 ral guanine nucleotide dissociation stimulator like 1 RGL1 ral guanine nucleotide dissociation stimulator-like 1 RGL Yes No Comparative Toxicogenomics Database:23179, Ensembl:ENSG00000143344, GeneCard:RGL1, HGNC:HGNC:30281, HumanCyc Gene:HS07031, ModBase:Q9NZL6, NCBI Gene:23179, OMIM:605667, RefSeq DNA:NT_004487, RefSeq Protein:NP_055964, RefSeq RNA:NM_015149, UniProtKB:Q5SXQ6, UniProtKB:Q9NZL6 No chr1 183605208 183897666 183636047 183928551 +PA34120 5863 HGNC:9769 ENSG00000206282, ENSG00000224841, ENSG00000228736, ENSG00000237441, ENSG00000237825 ral guanine nucleotide dissociation stimulator like 2 RGL2 ral guanine nucleotide dissociation stimulator-like 2 HKE1.5, KE1.5, RAB2L Yes No Comparative Toxicogenomics Database:5863, Ensembl:ENSG00000206282, Ensembl:ENSG00000224841, Ensembl:ENSG00000228736, Ensembl:ENSG00000237441, Ensembl:ENSG00000237825, GenAtlas:RGL2, GeneCard:RGL2, HGNC:HGNC:9769, HumanCyc Gene:HS00700, ModBase:O15211, NCBI Gene:5863, OMIM:602306, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_004752, RefSeq RNA:NM_004761, RefSeq RNA:NR_028387, UCSC Genome Browser:NM_004761, UniProtKB:O15211, UniProtKB:Q4G0R5, UniProtKB:Q9BWF0 No chr6 33259431 33267386 33291654 33299388 +PA134979213 57139 HGNC:30282 ENSG00000205517 ral guanine nucleotide dissociation stimulator like 3 RGL3 ral guanine nucleotide dissociation stimulator-like 3 FLJ32585 Yes No Ensembl:ENSG00000205517, GeneCard:RGL3, HGNC:HGNC:30282, ModBase:Q3MIN7, NCBI Gene:57139, RefSeq DNA:NT_011295, RefSeq Protein:NP_001030300, RefSeq Protein:NP_001155088, RefSeq RNA:NM_001035223, RefSeq RNA:NM_001161616, UniProtKB:B7ZL22, UniProtKB:Q3MIN7 No chr19 11504732 11530018 11394056 11419342 +PA162401277 266747 HGNC:31911 ENSG00000159496 ral guanine nucleotide dissociation stimulator like 4 RGL4 RalGDS related oncogene, ral guanine nucleotide dissociation stimulator-like 4 Rgr Yes Yes Ensembl:ENSG00000159496, GeneCard:RGL4, HGNC:HGNC:31911, HumanCyc Gene:HS14761, ModBase:Q8IZJ4, NCBI Gene:266747, OMIM:612214, RefSeq DNA:NT_011520, RefSeq Protein:NP_705843, RefSeq RNA:NM_153615, UniProtKB:Q8IZJ4 No chr22 24033048 24041444 23690861 23699176 +PA128394693 56963 HGNC:30308 ENSG00000182175 repulsive guidance molecule BMP co-receptor a RGMA """RGM domain family, member A"", ""repulsive guidance molecule family member a""" RGM, RGMa Yes Yes Comparative Toxicogenomics Database:56963, Ensembl:ENSG00000182175, GeneCard:RGMA, HGNC:HGNC:30308, NCBI Gene:56963, OMIM:607362, RefSeq DNA:NT_010274, RefSeq Protein:NP_001159755, RefSeq Protein:NP_001159758, RefSeq Protein:NP_001159759, RefSeq Protein:NP_001159760, RefSeq Protein:NP_001159761, RefSeq Protein:NP_064596, RefSeq RNA:NM_001166283, RefSeq RNA:NM_001166286, RefSeq RNA:NM_001166287, RefSeq RNA:NM_001166288, RefSeq RNA:NM_001166289, RefSeq RNA:NM_020211, UCSC Genome Browser:NM_020211, UniProtKB:B7Z5S8, UniProtKB:Q96B86 No chr15 93586636 93632443 93043406 93089214 +PA134868641 285704 HGNC:26896 ENSG00000174136 repulsive guidance molecule BMP co-receptor b RGMB """RGM domain family, member B"", ""repulsive guidance molecule family member b""" DRAGON, FLJ90406 Yes No Comparative Toxicogenomics Database:285704, Ensembl:ENSG00000174136, GeneCard:RGMB, HGNC:HGNC:26896, HumanCyc Gene:HS16301, NCBI Gene:285704, OMIM:612687, RefSeq DNA:NT_034772, RefSeq Protein:NP_001012779, RefSeq RNA:NM_001012761, UniProtKB:Q6NW40 No chr5 98104999 98132198 98768386 98796494 +PA34359 9104 HGNC:9989 ENSG00000130988 regucalcin RGN gluconolactonase, senescence marker protein-30 RC, SMP30 Yes No Comparative Toxicogenomics Database:9104, Ensembl:ENSG00000130988, GenAtlas:RGN, GeneCard:RGN, HGNC:HGNC:9989, HumanCyc Gene:HS05466, ModBase:Q15493, NCBI Gene:9104, OMIM:300212, RefSeq DNA:NT_079573, RefSeq Protein:NP_004674, RefSeq Protein:NP_690608, RefSeq RNA:NM_004683, RefSeq RNA:NM_152869, UCSC Genome Browser:NM_004683, UniProtKB:Q15493 No chrX 46937775 46952712 47078299 47093314 +PA162401278 9827 HGNC:21965 ENSG00000107185 RGP1 homolog, RAB6A GEF complex partner 1 RGP1 RGP1 retrograde golgi transport homolog (S. cerevisiae) KIAA0258 Yes No Ensembl:ENSG00000107185, GeneCard:RGP1, HGNC:HGNC:21965, HumanCyc Gene:HS12652, ModBase:Q92546, NCBI Gene:9827, RefSeq DNA:NT_008413, RefSeq Protein:NP_001073965, RefSeq RNA:NM_001080496 No chr9 35749277 35753264 35749280 35753267 +PA142671070 400966 HGNC:32414 ENSG00000187627 RANBP2 like and GRIP domain containing 1 RGPD1 RANBP2-like and GRIP domain containing 1 RGP1 Yes No Ensembl:ENSG00000187627, GeneCard:RGPD1, HGNC:HGNC:32414, ModBase:Q68DN6, NCBI Gene:400966, OMIM:612704, RefSeq DNA:NT_022184, RefSeq Protein:NP_001019628, RefSeq RNA:NM_001024457 No chr2 87140890 87241099 86913575 87013976 +PA142671071 729857 HGNC:32415 ENSG00000185304 RANBP2 like and GRIP domain containing 2 RGPD2 RANBP2-like and GRIP domain containing 2 RANBP2L2, RGP2 Yes No Ensembl:ENSG00000185304, GeneCard:RGPD2, HGNC:HGNC:32415, ModBase:P0C839, NCBI Gene:729857, OMIM:612705, RefSeq DNA:NT_022184, RefSeq Protein:NP_001071638, RefSeq RNA:NM_001078170, UniProtKB:B4DYH0, UniProtKB:Q68DN6 No chr2 88056717 88125331 87756955 87992819 +PA142671072 653489 HGNC:32416 ENSG00000153165 RANBP2 like and GRIP domain containing 3 RGPD3 RANBP2-like and GRIP domain containing 3 RGP3 Yes No Ensembl:ENSG00000153165, GeneCard:RGPD3, HGNC:HGNC:32416, NCBI Gene:653489, OMIM:612706, RefSeq DNA:NG_021160, RefSeq DNA:NT_022171, RefSeq Protein:NP_001137485, RefSeq RNA:NM_001144013, UniProtKB:B8ZZM4 No chr2 107021136 107084801 106404680 106470935 +PA142671073 285190 HGNC:32417 ENSG00000196862 RANBP2 like and GRIP domain containing 4 RGPD4 RANBP2-like and GRIP domain containing 4 DKFZp686P0288, RGP4 Yes No Ensembl:ENSG00000196862, GeneCard:RGPD4, HGNC:HGNC:32417, NCBI Gene:285190, OMIM:612707, RefSeq DNA:NT_022171, RefSeq Protein:NP_872394, RefSeq RNA:NM_182588, UniProtKB:B9A029 No chr2 108443388 108509000 107826921 107892544 +PA142671074 84220 HGNC:32418 ENSG00000015568, ENSG00000183054 RANBP2 like and GRIP domain containing 5 RGPD5 RANBP2-like and GRIP domain containing 5 BS-63, DKFZp686I1842, RGP5 Yes No Ensembl:ENSG00000015568, Ensembl:ENSG00000183054, GeneCard:RGPD5, HGNC:HGNC:32418, HumanCyc Gene:HS00372, NCBI Gene:84220, OMIM:612708, RefSeq DNA:NT_022135, RefSeq Protein:NP_005045, RefSeq Protein:NP_115636, RefSeq RNA:NM_005054, RefSeq RNA:NM_032260, UniProtKB:Q99666 No chr2 110550335 110615268 109760592 109857691 +PA142671075 729540 HGNC:32419 ENSG00000015568, ENSG00000183054 RANBP2 like and GRIP domain containing 6 RGPD6 RANBP2-like and GRIP domain containing 6 RGP6 Yes No Ensembl:ENSG00000015568, Ensembl:ENSG00000183054, GeneCard:RGPD6, HGNC:HGNC:32419, ModBase:Q53T03, NCBI Gene:729540, OMIM:612709, RefSeq DNA:NT_022135, RefSeq Protein:NP_001032955, RefSeq Protein:NP_001116835, RefSeq RNA:NM_001037866, RefSeq RNA:NM_001123363 No chr2 111271379 111336309 110513802 110610903 +PA34210 727851 HGNC:9849 ENSG00000169629 RANBP2 like and GRIP domain containing 8 RGPD8 RANBP2-like and GRIP domain containing 8 RANBP2L1, RanBP2alpha Yes No Ensembl:ENSG00000169629, GenAtlas:RGPD8, GeneCard:RGPD8, HGNC:HGNC:9849, ModBase:O14715, NCBI Gene:727851, OMIM:602752, RefSeq DNA:NT_022135, RefSeq Protein:NP_001157935, RefSeq Protein:XP_001722331, RefSeq Protein:XP_002346308, RefSeq RNA:NM_001164463, RefSeq RNA:XM_001722279, RefSeq RNA:XM_002346267, UCSC Genome Browser:NM_005054, UniProtKB:O14715 No chr2 113125946 113191222 112368369 112433645 +PA34360 5995 HGNC:9990 ENSG00000148604 retinal G protein coupled receptor RGR RGR-opsin RP44 Yes No Comparative Toxicogenomics Database:5995, Ensembl:ENSG00000148604, GenAtlas:RGR, GeneCard:RGR, HGNC:HGNC:9990, HumanCyc Gene:HS07542, ModBase:P47804, NCBI Gene:5995, OMIM:600342, RefSeq DNA:NG_009106, RefSeq DNA:NT_030059, RefSeq Protein:NP_001012738, RefSeq Protein:NP_001012740, RefSeq Protein:NP_002912, RefSeq RNA:NM_001012720, RefSeq RNA:NM_001012722, RefSeq RNA:NM_002921, UCSC Genome Browser:NM_002921, UniProtKB:P47804 No chr10 86004809 86018944 84245053 84259188 +PA34361 5996 HGNC:9991 ENSG00000090104 regulator of G protein signaling 1 RGS1 regulator of G-protein signaling 1 1R20, BL34, IER1, IR20 Yes No Comparative Toxicogenomics Database:5996, Ensembl:ENSG00000090104, GenAtlas:RGS1, GeneCard:RGS1, HGNC:HGNC:9991, HumanCyc Gene:HS01677, ModBase:Q08116, NCBI Gene:5996, OMIM:600323, RefSeq DNA:NT_004487, RefSeq Protein:NP_002913, RefSeq RNA:NM_002922, UCSC Genome Browser:NM_002922, UniProtKB:Q08116 No chr1 192544857 192549159 192575727 192580029 +PA34362 6001 HGNC:9992 ENSG00000148908 regulator of G protein signaling 10 RGS10 regulator of G-protein signaling 10 Yes No Comparative Toxicogenomics Database:6001, Ensembl:ENSG00000148908, GenAtlas:RGS10, GeneCard:RGS10, HGNC:HGNC:9992, HumanCyc Gene:HS07570, ModBase:O43665, NCBI Gene:6001, OMIM:602856, RefSeq DNA:NT_030059, RefSeq Protein:NP_001005339, RefSeq Protein:NP_002916, RefSeq RNA:NM_001005339, RefSeq RNA:NM_002925, UCSC Genome Browser:NM_002925, UniProtKB:O43665 No chr10 121259339 121302222 119499813 119542752 +PA34363 8786 HGNC:9993 ENSG00000076344 regulator of G protein signaling 11 RGS11 regulator of G-protein signaling 11 Yes No Comparative Toxicogenomics Database:8786, Ensembl:ENSG00000076344, GenAtlas:RGS11, GeneCard:RGS11, HGNC:HGNC:9993, HumanCyc Gene:HS01207, ModBase:O94810, NCBI Gene:8786, OMIM:603895, RefSeq DNA:NT_010393, RefSeq Protein:NP_003825, RefSeq Protein:NP_899180, RefSeq RNA:NM_003834, RefSeq RNA:NM_183337, UCSC Genome Browser:NM_003834, UniProtKB:O94810, UniProtKB:Q4TT70, UniProtKB:Q4TT72 No chr16 318300 325941 268301 275943 +PA34364 6002 HGNC:9994 ENSG00000159788 regulator of G protein signaling 12 RGS12 regulator of G-protein signaling 12 Yes No Comparative Toxicogenomics Database:6002, Ensembl:ENSG00000159788, GenAtlas:RGS12, GeneCard:RGS12, HGNC:HGNC:9994, HumanCyc Gene:HS08421, ModBase:O14924, NCBI Gene:6002, OMIM:602512, RefSeq DNA:NT_006051, RefSeq Protein:NP_002917, RefSeq Protein:NP_937870, RefSeq Protein:NP_937872, RefSeq RNA:NM_002926, RefSeq RNA:NM_198227, RefSeq RNA:NM_198229, UCSC Genome Browser:NM_002926, UniProtKB:O14924 No chr4 3315874 3441640 3292978 3439913 +PA34365 6003 HGNC:9995 ENSG00000127074 regulator of G protein signaling 13 RGS13 regulator of G-protein signaling 13 Yes No Comparative Toxicogenomics Database:6003, Ensembl:ENSG00000127074, GenAtlas:RGS13, GeneCard:RGS13, HGNC:HGNC:9995, HumanCyc Gene:HS05070, ModBase:O14921, NCBI Gene:6003, OMIM:607190, RefSeq DNA:NT_004487, RefSeq Protein:NP_002918, RefSeq Protein:NP_658912, RefSeq RNA:NM_002927, RefSeq RNA:NM_144766, UCSC Genome Browser:NM_002927, UniProtKB:O14921 No chr1 192605268 192629441 192636138 192660311 +PA34366 10636 HGNC:9996 ENSG00000169220 regulator of G protein signaling 14 RGS14 regulator of G-protein signaling 14 Yes No Ensembl:ENSG00000169220, GenAtlas:RGS14, GeneCard:RGS14, HGNC:HGNC:9996, HumanCyc Gene:HS09905, NCBI Gene:10636, OMIM:602513, RefSeq DNA:NT_023133, RefSeq Protein:NP_006471, RefSeq RNA:NM_006480, UCSC Genome Browser:NM_006480, UniProtKB:O43566 No chr5 176784704 176799599 177357671 177372601 +PA34367 6004 HGNC:9997 ENSG00000143333 regulator of G protein signaling 16 RGS16 regulator of G-protein signaling 16 A28-RGS14, RGS-r Yes No Comparative Toxicogenomics Database:6004, Ensembl:ENSG00000143333, GenAtlas:RGS16, GeneCard:RGS16, HGNC:HGNC:9997, HumanCyc Gene:HS07029, ModBase:O15492, NCBI Gene:6004, OMIM:602514, RefSeq DNA:NT_004487, RefSeq Protein:NP_002919, RefSeq RNA:NM_002928, UCSC Genome Browser:NM_002928, UniProtKB:O15492 No chr1 182567758 182573548 182598623 182604413 +PA34368 26575 HGNC:14088 ENSG00000091844 regulator of G protein signaling 17 RGS17 regulator of G-protein signaling 17 RGS-17, RGSZ2 Yes Yes Ensembl:ENSG00000091844, GenAtlas:RGS17, GeneCard:RGS17, HGNC:HGNC:14088, HumanCyc Gene:HS01747, ModBase:Q9UGC6, NCBI Gene:26575, OMIM:607191, RefSeq DNA:NT_025741, RefSeq Protein:NP_036551, RefSeq RNA:NM_012419, UCSC Genome Browser:NM_012419, UniProtKB:Q9UGC6 No chr6 153332026 153452389 153010891 153131284 +PA34369 64407 HGNC:14261 ENSG00000150681 regulator of G protein signaling 18 RGS18 regulator of G-protein signaling 18 RGS13 Yes No Comparative Toxicogenomics Database:64407, Ensembl:ENSG00000150681, GenAtlas:RGS18, GeneCard:RGS18, HGNC:HGNC:14261, HumanCyc Gene:HS07682, ModBase:Q9NS28, NCBI Gene:64407, OMIM:607192, RefSeq DNA:NT_004487, RefSeq Protein:NP_570138, RefSeq RNA:NM_130782, UCSC Genome Browser:NM_130782, UniProtKB:Q9NS28 No chr1 192127592 192154945 192158462 192187172 +PA34370 10287 HGNC:13735 ENSG00000171700 regulator of G protein signaling 19 RGS19 regulator of G-protein signaling 19 GAIP, RGSGAIP Yes No Comparative Toxicogenomics Database:10287, Ensembl:ENSG00000171700, GenAtlas:RGS19, GeneCard:RGS19, HGNC:HGNC:13735, HumanCyc Gene:HS10366, ModBase:P49795, NCBI Gene:10287, OMIM:605071, RefSeq DNA:NT_011333, RefSeq Protein:NP_001034556, RefSeq Protein:NP_005864, RefSeq RNA:NM_001039467, RefSeq RNA:NM_005873, UCSC Genome Browser:NM_005873, UniProtKB:P49795 No chr20 62704534 62711356 64073181 64080004 +PA34372 5997 HGNC:9998 ENSG00000116741 regulator of G protein signaling 2 RGS2 """regulator of G-protein signaling 2"", ""regulator of G-protein signaling 2, 24kDa""" G0S8 Yes Yes Comparative Toxicogenomics Database:5997, Ensembl:ENSG00000116741, GenAtlas:RGS2, GeneCard:RGS2, HGNC:HGNC:9998, HumanCyc Gene:HS04043, ModBase:P41220, NCBI Gene:5997, OMIM:600861, RefSeq DNA:NG_012800, RefSeq DNA:NT_004487, RefSeq Protein:NP_002914, RefSeq RNA:NM_002923, UCSC Genome Browser:NM_002923, UniProtKB:P41220 No chr1 192778169 192781407 192809039 192812277 +PA34373 8601 HGNC:14600 ENSG00000147509 regulator of G protein signaling 20 RGS20 regulator of G-protein signaling 20 RGSZ1, ZGAP1 Yes No Ensembl:ENSG00000147509, GenAtlas:RGS20, GeneCard:RGS20, HGNC:HGNC:14600, HumanCyc Gene:HS07444, ModBase:O76081, NCBI Gene:8601, OMIM:607193, RefSeq DNA:NT_008183, RefSeq Protein:NP_003693, RefSeq Protein:NP_733466, RefSeq RNA:NM_003702, RefSeq RNA:NM_170587, UCSC Genome Browser:NM_003702, UniProtKB:O76081 No chr8 54764368 54871863 53851808 53959304 +PA134875582 431704 HGNC:26839 ENSG00000253148 regulator of G protein signaling 21 RGS21 regulator of G-protein signaling 21 Yes No Ensembl:ENSG00000253148, GeneCard:RGS21, HGNC:HGNC:26839, ModBase:Q2M5E4, NCBI Gene:431704, OMIM:612407, RefSeq DNA:NT_004487, RefSeq Protein:NP_001034241, RefSeq RNA:NM_001039152, UniProtKB:Q2M5E4 No chr1 192286122 192336415 192316992 192367285 +PA142671068 26166 HGNC:24499 ENSG00000132554 regulator of G protein signaling 22 RGS22 regulator of G-protein signaling 22 CT145, DKFZP434I092, PRTD-NY2 Yes No Ensembl:ENSG00000132554, GeneCard:RGS22, HGNC:HGNC:24499, HumanCyc Gene:HS05655, NCBI Gene:26166, RefSeq DNA:NT_008046, RefSeq Protein:NP_056483, RefSeq RNA:NM_015668, UniProtKB:Q8NE09 No chr8 100973164 101118344 99960936 100106116 +PA34374 5998 HGNC:9999 ENSG00000138835 regulator of G protein signaling 3 RGS3 regulator of G-protein signaling 3 C2PA, FLJ20370, PDZ-RGS3 Yes No Comparative Toxicogenomics Database:5998, Ensembl:ENSG00000138835, GenAtlas:RGS3, GeneCard:RGS3, HGNC:HGNC:9999, HumanCyc Gene:HS06574, ModBase:Q8TD59, NCBI Gene:5998, OMIM:602189, RefSeq DNA:NT_008470, RefSeq Protein:NP_060260, RefSeq Protein:NP_066929, RefSeq Protein:NP_570613, RefSeq Protein:NP_602299, RefSeq Protein:NP_652759, RefSeq Protein:NP_652760, RefSeq RNA:NM_017790, RefSeq RNA:NM_021106, RefSeq RNA:NM_130795, RefSeq RNA:NM_134427, RefSeq RNA:NM_144488, RefSeq RNA:NM_144489, UCSC Genome Browser:NM_017790, UniProtKB:B3KWG8, UniProtKB:P49796, UniProtKB:Q9NX91 No chr9 116207009 116360023 113444729 113597743 +PA34375 5999 HGNC:10000 ENSG00000117152 regulator of G protein signaling 4 RGS4 regulator of G-protein signaling 4 SCZD9 Yes Yes Comparative Toxicogenomics Database:5999, Ensembl:ENSG00000117152, GenAtlas:RGS4, GeneCard:RGS4, HGNC:HGNC:10000, HumanCyc Gene:HS04101, ModBase:P49798, NCBI Gene:5999, OMIM:602516, OMIM:604906, RefSeq DNA:NG_023312, RefSeq DNA:NT_004487, RefSeq Protein:NP_001095915, RefSeq Protein:NP_001106851, RefSeq Protein:NP_001106852, RefSeq Protein:NP_005604, RefSeq RNA:NM_001102445, RefSeq RNA:NM_001113380, RefSeq RNA:NM_001113381, RefSeq RNA:NM_005613, UCSC Genome Browser:NM_005613, UniProtKB:A7XA58, UniProtKB:A7XA59, UniProtKB:A7YVV7, UniProtKB:B1APZ3, UniProtKB:P49798 No chr1 163038396 163046592 163068606 163076802 +PA34376 8490 HGNC:10001 ENSG00000232995 regulator of G protein signaling 5 RGS5 regulator of G-protein signaling 5 Yes Yes Comparative Toxicogenomics Database:8490, Ensembl:ENSG00000232995, GenAtlas:RGS5, GeneCard:RGS5, HGNC:HGNC:10001, HumanCyc Gene:HS07013, ModBase:O15539, NCBI Gene:8490, OMIM:145500, OMIM:603276, RefSeq DNA:NT_004487, RefSeq Protein:NP_001182232, RefSeq Protein:NP_003608, RefSeq RNA:NM_001195303, RefSeq RNA:NM_003617, RefSeq RNA:XR_108295, UCSC Genome Browser:NM_003617, UniProtKB:O15539 No chr1 163112089 163291581 163142299 163321791 +PA34377 9628 HGNC:10002 ENSG00000182732 regulator of G protein signaling 6 RGS6 regulator of G-protein signaling 6 Yes No Ensembl:ENSG00000182732, GenAtlas:RGS6, GeneCard:RGS6, HGNC:HGNC:10002, ModBase:Q9Y647, NCBI Gene:9628, OMIM:603894, RefSeq DNA:NT_026437, RefSeq Protein:NP_001191345, RefSeq Protein:NP_001191346, RefSeq Protein:NP_001191347, RefSeq Protein:NP_001191348, RefSeq Protein:NP_001191349, RefSeq Protein:NP_001191350, RefSeq Protein:NP_001191351, RefSeq Protein:NP_001191352, RefSeq Protein:NP_001191353, RefSeq Protein:NP_004287, RefSeq RNA:NM_001204416, RefSeq RNA:NM_001204417, RefSeq RNA:NM_001204418, RefSeq RNA:NM_001204419, RefSeq RNA:NM_001204420, RefSeq RNA:NM_001204421, RefSeq RNA:NM_001204422, RefSeq RNA:NM_001204423, RefSeq RNA:NM_001204424, RefSeq RNA:NM_004296, UCSC Genome Browser:NM_004296, UniProtKB:P49758, UniProtKB:Q2M3K2 No chr14 72398817 73033238 71932100 72632478 +PA34378 6000 HGNC:10003 ENSG00000182901 regulator of G protein signaling 7 RGS7 regulator of G-protein signaling 7 Yes No Ensembl:ENSG00000182901, GenAtlas:RGS7, GeneCard:RGS7, HGNC:HGNC:10003, ModBase:P49802, NCBI Gene:6000, OMIM:602517, RefSeq DNA:NT_167186, RefSeq Protein:NP_002915, RefSeq RNA:NM_002924, UCSC Genome Browser:NM_002924, UniProtKB:P49802 No chr1 240938817 241520505 240775193 241357374 +PA162401279 401190 HGNC:23271 ENSG00000186479 regulator of G protein signaling 7 binding protein RGS7BP regulator of G-protein signaling 7 binding protein R7BP Yes No Ensembl:ENSG00000186479, GeneCard:RGS7BP, HGNC:HGNC:23271, NCBI Gene:401190, OMIM:610890, RefSeq DNA:NT_006713, RefSeq Protein:NP_001025046, RefSeq RNA:NM_001029875, UniProtKB:Q6MZT1 No chr5 63801774 63909285 64504565 64614661 +PA34379 85397 HGNC:16810 ENSG00000135824 regulator of G protein signaling 8 RGS8 regulator of G-protein signaling 8 MGC119067, MGC119068, MGC119069 Yes No Comparative Toxicogenomics Database:85397, Ensembl:ENSG00000135824, GenAtlas:RGS8, GeneCard:RGS8, HGNC:HGNC:16810, HumanCyc Gene:HS06068, ModBase:P57771, NCBI Gene:85397, OMIM:607189, RefSeq DNA:NT_004487, RefSeq Protein:NP_001095920, RefSeq Protein:NP_203131, RefSeq RNA:NM_001102450, RefSeq RNA:NM_033345, UCSC Genome Browser:NM_033345, UniProtKB:P57771 No chr1 182613036 182653502 182641814 182753291 +PA34380 8787 HGNC:10004 ENSG00000108370 regulator of G protein signaling 9 RGS9 regulator of G protein signalling 9, regulator of G protein signalling 9L, regulator of G-protein signaling 9, regulator of G-protein signaling 9L MGC111763, MGC26458, PERRS, RGS9L Yes No Comparative Toxicogenomics Database:8787, Ensembl:ENSG00000108370, GenAtlas:RGS9, GeneCard:RGS9, HGNC:HGNC:10004, HumanCyc Gene:HS03092, ModBase:O75916, NCBI Gene:8787, OMIM:604067, OMIM:608415, RefSeq DNA:NG_013021, RefSeq DNA:NT_010783, RefSeq Protein:NP_001075424, RefSeq Protein:NP_001159405, RefSeq Protein:NP_003826, RefSeq RNA:NM_001081955, RefSeq RNA:NM_001165933, RefSeq RNA:NM_003835, UCSC Genome Browser:NM_003835, UniProtKB:A8K1G1, UniProtKB:O75916 No chr17 63133456 63223821 65137338 65227703 +PA162401280 388531 HGNC:30304 ENSG00000186326 regulator of G protein signaling 9 binding protein RGS9BP FLJ45744, PERRS, R9AP, RGS9 Yes No Ensembl:ENSG00000186326, GeneCard:RGS9BP, HGNC:HGNC:30304, ModBase:Q6ZS82, NCBI Gene:388531, OMIM:607814, OMIM:608415, RefSeq DNA:NG_016751, RefSeq DNA:NT_011109, RefSeq Protein:NP_997274, RefSeq RNA:NM_207391, UniProtKB:Q6ZS82 No chr19 33166313 33169206 32675407 32678300 +PA134870196 353299 HGNC:18636 ENSG00000121446 regulator of G protein signaling like 1 RGSL1 regulator of G-protein signaling like 1 RGSL2 Yes No Ensembl:ENSG00000121446, GeneCard:RGSL1, HGNC:HGNC:18636, ModBase:Q9H084, NCBI Gene:353299, OMIM:611012, RefSeq DNA:NT_004487, RefSeq Protein:NP_001131141, RefSeq RNA:NM_001137669, UniProtKB:A5PLK6 No chr1 182419256 182529732 182447877 182560597 +PA34381 6005 HGNC:10006 ENSG00000112077 Rh associated glycoprotein RHAG Ammonium transporter Rh type A, Rh-associated glycoprotein CD241, RH50A, SLC42A1 Yes No Comparative Toxicogenomics Database:6005, Ensembl:ENSG00000112077, GenAtlas:RHAG, GeneCard:RHAG, HGNC:HGNC:10006, HumanCyc Gene:HS03508, ModBase:Q02094, NCBI Gene:6005, OMIM:180297, OMIM:268150, RefSeq DNA:NG_011704, RefSeq DNA:NT_007592, RefSeq Protein:NP_000315, RefSeq RNA:NM_000324, UCSC Genome Browser:NM_000324, UniProtKB:Q02094, UniProtKB:Q96E98 No chr6 49572888 49604587 49605175 49636874 +PA143485593 84236 HGNC:23081 ENSG00000144468 rhomboid domain containing 1 RHBDD1 rhomboid like 4 DKFZp547E052, RHBDL4 Yes No Ensembl:ENSG00000144468, GeneCard:RHBDD1, HGNC:HGNC:23081, ModBase:Q8TEB9, NCBI Gene:84236, RefSeq DNA:NT_005403, RefSeq Protein:NP_001161080, RefSeq Protein:NP_115652, RefSeq RNA:NM_001167608, RefSeq RNA:NM_032276, UniProtKB:Q8TEB9 No chr2 227700652 227863926 226800164 226999210 +PA134864375 57414 HGNC:23082 ENSG00000005486 rhomboid domain containing 2 RHBDD2 NPD007, RHBDL7 Yes No Comparative Toxicogenomics Database:57414, Ensembl:ENSG00000005486, GeneCard:RHBDD2, HGNC:HGNC:23082, HumanCyc Gene:HS12005, ModBase:Q6NTF9, NCBI Gene:57414, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001035546, RefSeq Protein:NP_001035547, RefSeq RNA:NM_001040456, RefSeq RNA:NM_001040457, UniProtKB:Q6NTF9 No chr7 75508317 75518244 75878999 75888926 +PA25887 25807 HGNC:1308 ENSG00000100263 rhomboid domain containing 3 RHBDD3 C22orf3, PTAG Yes No Comparative Toxicogenomics Database:25807, Ensembl:ENSG00000100263, GenAtlas:RHBDD3, GeneCard:RHBDD3, HGNC:HGNC:1308, HumanCyc Gene:HS12399, ModBase:Q9Y3P4, NCBI Gene:25807, RefSeq DNA:NT_011520, RefSeq Protein:NP_036397, RefSeq RNA:NM_012265, UCSC Genome Browser:NM_012265, UniProtKB:Q9Y3P4 No chr22 29655844 29664147 29259855 29268196 +PA25563 64285 HGNC:20561 ENSG00000007384 rhomboid 5 homolog 1 RHBDF1 rhomboid 5 homolog 1 (Drosophila) C16orf8, Dist1, EGFR-RS, FLJ2235, iRhom1 Yes No Ensembl:ENSG00000007384, GeneCard:RHBDF1, HGNC:HGNC:20561, HumanCyc Gene:HS12023, ModBase:Q96CC6, NCBI Gene:64285, RefSeq DNA:NT_010393, RefSeq Protein:NP_071895, RefSeq RNA:NM_022450, UCSC Genome Browser:NM_022450, UniProtKB:Q96CC6 No chr16 108058 126354 58059 76355 +PA134980674 79651 HGNC:20788 ENSG00000129667 rhomboid 5 homolog 2 RHBDF2 rhomboid 5 homolog 2 (Drosophila) FLJ22341, RHBDL5, RHBDL6, TOC, TOCG, iRhom2 Yes Yes Comparative Toxicogenomics Database:79651, Ensembl:ENSG00000129667, GeneCard:RHBDF2, HGNC:HGNC:20788, HumanCyc Gene:HS13307, NCBI Gene:79651, RefSeq DNA:NT_010783, RefSeq Protein:NP_001005498, RefSeq Protein:NP_078875, RefSeq RNA:NM_001005498, RefSeq RNA:NM_024599, UniProtKB:Q6PJF5 No chr17 74466975 74497509 76470893 76501440 +PA34382 9028 HGNC:10007 ENSG00000103269 rhomboid like 1 RHBDL1 rhomboid, veinlet-like 1 (Drosophila) RHBDL, RRP Yes No Comparative Toxicogenomics Database:9028, Ensembl:ENSG00000103269, GeneCard:RHBDL1, HGNC:HGNC:10007, HumanCyc Gene:HS02483, ModBase:O75783, NCBI Gene:9028, OMIM:603264, RefSeq DNA:NT_010393, RefSeq Protein:NP_003952, RefSeq RNA:NM_003961, UCSC Genome Browser:NM_003961, UniProtKB:O75783 No chr16 725666 728268 675666 678271 +PA34383 54933 HGNC:16083 ENSG00000158315 rhomboid like 2 RHBDL2 rhomboid, veinlet-like 2 (Drosophila) FLJ20435 Yes No Comparative Toxicogenomics Database:54933, Ensembl:ENSG00000158315, GenAtlas:RHBDL2, GeneCard:RHBDL2, HGNC:HGNC:16083, HumanCyc Gene:HS08280, ModBase:Q9NX52, NCBI Gene:54933, OMIM:608962, RefSeq DNA:NT_032977, RefSeq Protein:NP_060291, RefSeq RNA:NM_017821, UCSC Genome Browser:NM_017821, UniProtKB:B3KUN4, UniProtKB:Q9NX52 No chr1 39350614 39407456 38885806 38941830 +PA34384 162494 HGNC:16502 ENSG00000141314 rhomboid like 3 RHBDL3 rhomboid, veinlet-like 3 (Drosophila) RHBDL4, VRHO Yes No Comparative Toxicogenomics Database:162494, Ensembl:ENSG00000141314, GenAtlas:RHBDL3, GeneCard:RHBDL3, HGNC:HGNC:16502, HumanCyc Gene:HS06813, ModBase:P58872, NCBI Gene:162494, RefSeq DNA:NT_010799, RefSeq Protein:NP_612201, RefSeq RNA:NM_138328, UniProtKB:P58872, UniProtKB:Q495Y4 No chr17 30593195 30651680 32266167 32324661 +PA34385 57127 HGNC:14572 ENSG00000132677 Rh family B glycoprotein RHBG """Rh family B glycoprotein (gene/pseudogene)"", ""Rh family, B glycoprotein (gene/pseudogene)"", ""solute carrier family 42 member 2""" SLC42A2 Yes No Comparative Toxicogenomics Database:57127, Ensembl:ENSG00000132677, GenAtlas:RHBG, GeneCard:RHBG, HGNC:HGNC:14572, HumanCyc Gene:HS05674, ModBase:Q9H310, NCBI Gene:57127, OMIM:607079, RefSeq DNA:NT_004487, RefSeq Protein:NP_065140, RefSeq RNA:NM_020407, RefSeq RNA:NR_026549, UCSC Genome Browser:NM_020407, UniProtKB:Q9H310 No chr1 156338980 156355013 156366044 156385221 +PA34386 6006 HGNC:10008 ENSG00000188672 Rh blood group CcEe antigens RHCE Rh blood group, CcEe antigens CD240CE, RH, SLC42A4 Yes No Comparative Toxicogenomics Database:6006, Ensembl:ENSG00000188672, GenAtlas:RHCE, GeneCard:RHCE, HGNC:HGNC:10008, HumanCyc Gene:HS11322, ModBase:P18577, NCBI Gene:6006, OMIM:111700, RefSeq DNA:NG_003255, RefSeq DNA:NG_009208, RefSeq DNA:NT_004610, RefSeq Protein:NP_065231, RefSeq Protein:NP_619522, RefSeq Protein:NP_619523, RefSeq Protein:NP_619524, RefSeq RNA:NM_020485, RefSeq RNA:NM_138616, RefSeq RNA:NM_138617, RefSeq RNA:NM_138618, UCSC Genome Browser:NM_020485, UniProtKB:P18577, UniProtKB:Q5VSJ7, UniProtKB:Q5VSJ8 No chr1 25687853 25747363 25362249 25430193 +PA134876043 51458 HGNC:18140 ENSG00000140519 Rh family C glycoprotein RHCG Rh family, C glycoprotein C15orf6, PDRC2, RHGK, SLC42A3 Yes No Ensembl:ENSG00000140519, GeneCard:RHCG, HGNC:HGNC:18140, HumanCyc Gene:HS06731, ModBase:Q9UBD6, NCBI Gene:51458, OMIM:605381, RefSeq DNA:NT_010274, RefSeq Protein:NP_057405, RefSeq RNA:NM_016321, UniProtKB:A8K4D4, UniProtKB:Q9UBD6 No chr15 90014638 90039799 89471407 89496613 +PA34387 6007 HGNC:10009 ENSG00000187010 Rh blood group D antigen RHD Rh blood group, D antigen CD240D, DIIIc, RH, Rh30a, Rh4, RhII, RhPI, SLC42A5 Yes No Comparative Toxicogenomics Database:6007, Ensembl:ENSG00000187010, GenAtlas:RHD, GeneCard:RHD, HGNC:HGNC:10009, ModBase:Q9UQ20, NCBI Gene:6007, OMIM:111680, RefSeq DNA:NG_003255, RefSeq DNA:NG_007494, RefSeq DNA:NT_004610, RefSeq Protein:NP_001121163, RefSeq Protein:NP_057208, RefSeq RNA:NM_001127691, RefSeq RNA:NM_016124, UCSC Genome Browser:NM_016124, UniProtKB:Q02161, UniProtKB:Q5XLT3, UniProtKB:Q7RU08 No chr1 25598884 25656936 25272393 25330445 +PA34389 6009 HGNC:10011 ENSG00000106615 Ras homolog, mTORC1 binding RHEB Ras homolog enriched in brain RHEB2 Yes No Comparative Toxicogenomics Database:6009, Ensembl:ENSG00000106615, GeneCard:RHEB, HGNC:HGNC:10011, HumanCyc Gene:HS02930, ModBase:Q15382, NCBI Gene:6009, OMIM:601293, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_005605, RefSeq RNA:NM_005614, UCSC Genome Browser:NM_005614, UniProtKB:Q15382 No chr7 151163098 151217010 151466012 151519924 +PA134984759 121268 HGNC:21166 ENSG00000167550 RHEB like 1 RHEBL1 Ras homolog enriched in brain like 1 FLJ25797, MGC34869, RHEB2 Yes No Comparative Toxicogenomics Database:121268, Ensembl:ENSG00000167550, GeneCard:RHEBL1, HGNC:HGNC:21166, HumanCyc Gene:HS09575, ModBase:Q8TAI7, NCBI Gene:121268, RefSeq DNA:NT_029419, RefSeq Protein:NP_653194, RefSeq RNA:NM_144593, UniProtKB:Q8TAI7 No chr12 49458467 49463808 49064676 49070682 +PA34388 6008 HGNC:10010 ENSG00000229927 Ras-homolog enriched in brain pseudogene 1 RHEBP1 RHEB Yes No Ensembl:ENSG00000229927, GeneCard:RHEBP1, HGNC:HGNC:10010, NCBI Gene:6008, RefSeq DNA:NG_002826, RefSeq DNA:NT_031847 No chr10 46913771 46915114 46634502 46635846 +PA142672434 440712 HGNC:25341 ENSG00000263961 regulator of hemoglobinization and erythroid cell expansion RHEX chromosome 1 open reading frame 186, regulator of human erythroid cell expansion C1orf186, FLJ16052 Yes No Ensembl:ENSG00000263961, GeneCard:C1orf186, HGNC:HGNC:25341, NCBI Gene:440712, RefSeq DNA:NT_086602, RefSeq Protein:NP_001007545, RefSeq RNA:NM_001007544, UniProtKB:Q6ZWK4 No chr1 206238872 206288236 206052723 206102701 +PA143485362 83695 HGNC:28206 ENSG00000171792 RAD9-HUS1-RAD1 interacting nuclear orphan 1 RHNO1 Rad9, Rad1, Hus1 interacting nuclear orphan C12orf32, HKMT1188, MGC13204, RHINO Yes No Ensembl:ENSG00000171792, GeneCard:C12orf32, HGNC:HGNC:28206, HumanCyc Gene:HS16024, ModBase:Q9BSD3, NCBI Gene:83695, RefSeq DNA:NT_009759, RefSeq RNA:NR_027363, RefSeq RNA:NR_027364, RefSeq RNA:NR_027365, RefSeq RNA:XR_078456, RefSeq RNA:XR_078774, RefSeq RNA:XR_079310 No chr12 2985424 2998691 2876258 2889525 +PA34390 6010 HGNC:10012 ENSG00000163914 rhodopsin RHO opsin 2, rod pigment CSNBAD1, OPN2, RP4 Yes No Comparative Toxicogenomics Database:6010, Ensembl:ENSG00000163914, GenAtlas:RHO, GeneCard:RHO, HGNC:HGNC:10012, HumanCyc Gene:HS08964, ModBase:P08100, NCBI Gene:6010, OMIM:180380, OMIM:610445, RefSeq DNA:NG_009115, RefSeq DNA:NT_005612, RefSeq Protein:NP_000530, RefSeq RNA:NM_000539, UCSC Genome Browser:NM_000539, UniProtKB:P08100 No chr3 129247482 129254187 129528639 129535344 +PA134865095 387 HGNC:667 ENSG00000067560 ras homolog family member A RHOA ARH12, ARHA, RHOH12, Rho12, RhoA Yes Yes Comparative Toxicogenomics Database:387, Ensembl:ENSG00000067560, GeneCard:RHOA, HGNC:HGNC:667, HumanCyc Gene:HS00910, ModBase:P61586, NCBI Gene:387, OMIM:165390, RefSeq DNA:NT_022517, RefSeq Protein:NP_001655, RefSeq RNA:NM_001664, UniProtKB:P61586, UniProtKB:Q9BVT0 No chr3 49396569 49449526 49359136 49412097 +PA24950 388 HGNC:668 ENSG00000143878 ras homolog family member B RHOB oncogene RHO H6 ARH6, ARHB, MST081, RHOH6, RhoB Yes No Comparative Toxicogenomics Database:388, Ensembl:ENSG00000143878, GenAtlas:RHOB, GeneCard:RHOB, HGNC:HGNC:668, HumanCyc Gene:HS07122, ModBase:P62745, NCBI Gene:388, OMIM:165370, RefSeq DNA:NT_015926, RefSeq Protein:NP_004031, RefSeq RNA:NM_004040, UCSC Genome Browser:NM_004040, UniProtKB:B2R692, UniProtKB:P62745 No chr2 20646835 20649201 20447071 20449445 +PA38664 9886 HGNC:18738 ENSG00000072422 Rho related BTB domain containing 1 RHOBTB1 Rho-related BTB domain containing 1 KIAA0740 Yes No Comparative Toxicogenomics Database:9886, Ensembl:ENSG00000072422, GenAtlas:RHOBTB1, GeneCard:RHOBTB1, HGNC:HGNC:18738, HumanCyc Gene:HS01067, ModBase:O94844, NCBI Gene:9886, OMIM:607351, RefSeq DNA:NT_030059, RefSeq Protein:NP_001229288, RefSeq Protein:NP_055651, RefSeq RNA:NM_001242359, RefSeq RNA:NM_014836, RefSeq RNA:NR_024554, RefSeq RNA:NR_024555, RefSeq RNA:NR_024556, UCSC Genome Browser:NM_014836, UniProtKB:O94844 No chr10 62629196 62761198 60869438 61001486 +PA38678 23221 HGNC:18756 ENSG00000008853 Rho related BTB domain containing 2 RHOBTB2 Rho-related BTB domain containing 2 DBC2, KIAA0717 Yes No Comparative Toxicogenomics Database:23221, Ensembl:ENSG00000008853, GenAtlas:RHOBTB2, GeneCard:RHOBTB2, HGNC:HGNC:18756, HumanCyc Gene:HS00257, ModBase:Q9BYZ6, NCBI Gene:23221, OMIM:607352, RefSeq DNA:NT_167187, RefSeq Protein:NP_001153508, RefSeq Protein:NP_001153509, RefSeq Protein:NP_055993, RefSeq RNA:NM_001160036, RefSeq RNA:NM_001160037, RefSeq RNA:NM_015178, UCSC Genome Browser:NM_015178, UniProtKB:A8K9Z8, UniProtKB:Q9BYZ6 No chr8 22844930 22877710 22987406 23020197 +PA38679 22836 HGNC:18757 ENSG00000164292 Rho related BTB domain containing 3 RHOBTB3 Rho-related BTB domain containing 3 KIAA0878 Yes No Comparative Toxicogenomics Database:22836, Ensembl:ENSG00000164292, GenAtlas:RHOBTB3, GeneCard:RHOBTB3, HGNC:HGNC:18757, HumanCyc Gene:HS09054, ModBase:O94955, NCBI Gene:22836, OMIM:607353, RefSeq DNA:NT_034772, RefSeq Protein:NP_055714, RefSeq RNA:NM_014899, UCSC Genome Browser:NM_014899, UniProtKB:O94955 No chr5 95049181 95132071 95713522 95796367 +PA24951 389 HGNC:669 ENSG00000155366 ras homolog family member C RHOC ARH9, ARHC, RhoC Yes No Comparative Toxicogenomics Database:389, Ensembl:ENSG00000155366, GenAtlas:RHOC, GeneCard:RHOC, HGNC:HGNC:669, HumanCyc Gene:HS08047, ModBase:P08134, NCBI Gene:389, OMIM:165380, RefSeq DNA:NT_032977, RefSeq Protein:NP_001036143, RefSeq Protein:NP_001036144, RefSeq Protein:NP_786886, RefSeq RNA:NM_001042678, RefSeq RNA:NM_001042679, RefSeq RNA:NM_175744, UCSC Genome Browser:NM_005167, UCSC Genome Browser:NM_175744, UniProtKB:P08134 No chr1 113243749 113250025 112701127 112707403 +PA24952 29984 HGNC:670 ENSG00000173156 ras homolog family member D RHOD Rho-related GTP-binding protein RhoD, Rho-related protein HP1 ARHD, Rho, RhoD, RhoHP1 Yes No Comparative Toxicogenomics Database:29984, Ensembl:ENSG00000173156, GenAtlas:RHOD, GeneCard:RHOD, HGNC:HGNC:670, HumanCyc Gene:HS10623, ModBase:O00212, NCBI Gene:29984, OMIM:605781, RefSeq DNA:NT_167190, RefSeq Protein:NP_055393, RefSeq RNA:NM_014578, UCSC Genome Browser:NM_014578, UniProtKB:O00212 No chr11 66824289 66839488 67056818 67072017 +PA24954 54509 HGNC:15703 ENSG00000139725 ras homolog family member F, filopodia associated RHOF ras homolog family member F (in filopodia), rho in filopodia ARHF, FLJ20247, RIF Yes No Ensembl:ENSG00000139725, GenAtlas:RHOF, GeneCard:RHOF, HGNC:HGNC:15703, HumanCyc Gene:HS06653, ModBase:Q9HBH0, NCBI Gene:54509, RefSeq DNA:NT_009775, RefSeq Protein:NP_061907, RefSeq RNA:NM_019034, UCSC Genome Browser:NM_019034, UniProtKB:Q9HBH0 No chr12 122215660 122231594 121777754 121793688 +PA24955 391 HGNC:672 ENSG00000177105 ras homolog family member G RHOG ARHG, MGC125835, MGC125836, RhoG Yes No Comparative Toxicogenomics Database:391, Ensembl:ENSG00000177105, GenAtlas:RHOG, GeneCard:RHOG, HGNC:HGNC:672, HumanCyc Gene:HS11125, ModBase:P84095, NCBI Gene:391, OMIM:179505, RefSeq DNA:NT_009237, RefSeq Protein:NP_001656, RefSeq RNA:NM_001665, UCSC Genome Browser:NM_001665, UniProtKB:P84095, UniProtKB:Q6ICQ8 No chr11 3848208 3862213 3826978 3840983 +PA24979 399 HGNC:686 ENSG00000168421 ras homolog family member H RHOH ARHH, RhoH, TTF Yes No Comparative Toxicogenomics Database:399, Ensembl:ENSG00000168421, GenAtlas:RHOH, GeneCard:RHOH, HGNC:HGNC:686, HumanCyc Gene:HS09755, ModBase:Q15669, NCBI Gene:399, OMIM:602037, RefSeq DNA:NT_016297, RefSeq Protein:NP_004301, RefSeq RNA:NM_004310, UCSC Genome Browser:NM_004310, UniProtKB:Q15669, UniProtKB:Q6ICP4 No chr4 40192631 40246384 40191011 40244764 +PA24981 57381 HGNC:688 ENSG00000126785 ras homolog family member J RHOJ ARHJ, FLJ14445, RASL7B, TCL Yes No Comparative Toxicogenomics Database:57381, Ensembl:ENSG00000126785, GenAtlas:RHOJ, GeneCard:RHOJ, HGNC:HGNC:688, HumanCyc Gene:HS05049, ModBase:Q9H4E5, NCBI Gene:57381, OMIM:607653, RefSeq DNA:NT_026437, RefSeq Protein:NP_065714, RefSeq RNA:NM_020663, UCSC Genome Browser:NM_020663, UniProtKB:Q9H4E5 No chr14 63671080 63760230 63204127 63293512 +PA134904280 23433 HGNC:17736 ENSG00000119729 ras homolog family member Q RHOQ ARHQ, RASL7A, TC10 Yes No Comparative Toxicogenomics Database:23433, Ensembl:ENSG00000119729, GeneCard:RHOQ, HGNC:HGNC:17736, HumanCyc Gene:HS04334, ModBase:P17081, NCBI Gene:23433, OMIM:605857, RefSeq DNA:NT_022184, RefSeq Protein:NP_036381, RefSeq RNA:NM_012249, UniProtKB:P17081 No chr2 46769867 46811827 46542409 46584688 +PA134938408 319093 HGNC:20003 ENSG00000258568 ras homolog family member Q pseudogene 1 RHOQP1 Yes No Ensembl:ENSG00000258568, HGNC:HGNC:20003, NCBI Gene:319093, RefSeq DNA:NG_002478, RefSeq DNA:NT_026437 No chr14 50066691 50067331 49599673 49600913 +PA134906318 55288 HGNC:21168 ENSG00000126858 ras homolog family member T1 RHOT1 mitochondrial Rho (MIRO) GTPase 1 ARHT1, FLJ11040, MIRO-1, MIRO1 Yes No Ensembl:ENSG00000126858, GeneCard:RHOT1, HGNC:HGNC:21168, HumanCyc Gene:HS05054, ModBase:Q86UB0, NCBI Gene:55288, RefSeq DNA:NT_010799, RefSeq Protein:NP_001028738, RefSeq Protein:NP_001028740, RefSeq Protein:NP_060777, RefSeq RNA:NM_001033566, RefSeq RNA:NM_001033568, RefSeq RNA:NM_018307, UniProtKB:Q8IXI2 No chr17 30469473 30552746 32142454 32253374 +PA134889674 89941 HGNC:21169 ENSG00000140983 ras homolog family member T2 RHOT2 mitochondrial Rho (MIRO) GTPase 2 ARHT2, C16orf39, MIRO-2, MIRO2 Yes No Comparative Toxicogenomics Database:89941, Ensembl:ENSG00000140983, GeneCard:RHOT2, HGNC:HGNC:21169, HumanCyc Gene:HS06782, ModBase:Q8IXI1, NCBI Gene:89941, RefSeq DNA:NT_010393, RefSeq Protein:NP_620124, RefSeq RNA:NM_138769, UniProtKB:Q8IXI1 No chr16 718083 724174 668083 674174 +PA38246 58480 HGNC:17794 ENSG00000116574 ras homolog family member U RHOU 2310026M05Rik, CDC42-like GTPase, GTP-binding protein SB128, GTP-binding protein like 1, Ryu GTPase, Wnt-1 responsive Cdc42 homolog, ras-like gene family member U ARHU, CDC42L1, DJ646B12.2, FLJ10616, WRCH-1, WRCH1, fJ646B12.2, hG28K Yes No Comparative Toxicogenomics Database:58480, Ensembl:ENSG00000116574, GenAtlas:RHOU, GeneCard:RHOU, HGNC:HGNC:17794, HumanCyc Gene:HS04022, ModBase:Q7L0Q8, NCBI Gene:58480, OMIM:606366, RefSeq DNA:NT_167186, RefSeq Protein:NP_067028, RefSeq RNA:NM_021205, RefSeq RNA:NR_037962, UCSC Genome Browser:NM_021205, UniProtKB:Q7L0Q8 No chr1 228780394 228882416 228644647 228746669 +PA38313 171177 HGNC:18313 ENSG00000104140 ras homolog family member V RHOV ARHV, Chp, WRCH2 Yes No Comparative Toxicogenomics Database:171177, Ensembl:ENSG00000104140, GenAtlas:RHOV, GeneCard:RHOV, HGNC:HGNC:18313, HumanCyc Gene:HS02546, ModBase:Q96L33, NCBI Gene:171177, RefSeq DNA:NT_010194, RefSeq Protein:NP_598378, RefSeq RNA:NM_133639, UCSC Genome Browser:NM_133639, UniProtKB:Q96L33 No chr15 41164412 41166487 40872214 40874289 +PA162401287 158800 HGNC:29993 ENSG00000101883 Rhox homeobox family member 1 RHOXF1 Rhox homeobox family, member 1 OTEX, PEPP1 Yes No Ensembl:ENSG00000101883, GeneCard:RHOXF1, HGNC:HGNC:29993, HumanCyc Gene:HS02312, ModBase:Q8NHV9, NCBI Gene:158800, OMIM:300446, RefSeq DNA:NT_011786, RefSeq Protein:NP_644811, RefSeq RNA:NM_139282, UniProtKB:Q8NHV9 No chrX 119243011 119249847 120109049 120117651 +PA162401288 84528 HGNC:30011 ENSG00000131721 Rhox homeobox family member 2 RHOXF2 """Rhox homeobox family, member 2"", ""cancer/testis antigen 107""" CT107, PEPP-2, PEPP2, THG1 Yes No Ensembl:ENSG00000131721, GeneCard:RHOXF2, HGNC:HGNC:30011, HumanCyc Gene:HS05553, ModBase:Q9BQY4, NCBI Gene:84528, OMIM:300447, RefSeq DNA:NT_011786, RefSeq Protein:NP_115887, RefSeq RNA:NM_032498, UniProtKB:Q9BQY4 No chrX 119292432 119297933 120158534 120164039 +PA162401289 727940 HGNC:33519 ENSG00000203989 Rhox homeobox family member 2B RHOXF2B Rhox homeobox family, member 2B Yes No Ensembl:ENSG00000203989, GeneCard:RHOXF2B, HGNC:HGNC:33519, ModBase:P0C7M4, NCBI Gene:727940, RefSeq DNA:NT_011786, RefSeq Protein:NP_001093155, RefSeq RNA:NM_001099685, UniProtKB:P0C7M4 No chrX 119206229 119211707 120072264 120077742 +PA134987144 114822 HGNC:19973 ENSG00000158106 rhophilin Rho GTPase binding protein 1 RHPN1 rhophilin, Rho GTPase binding protein 1 KIAA1929, ODF5, RHPN Yes No Ensembl:ENSG00000158106, GeneCard:RHPN1, HGNC:HGNC:19973, HumanCyc Gene:HS08268, ModBase:Q8TCX5, NCBI Gene:114822, OMIM:601031, RefSeq DNA:NT_008046, RefSeq Protein:NP_443156, RefSeq RNA:NM_052924, UniProtKB:Q8TCX5 No chr8 144451025 144466390 143368827 143384220 +PA142672370 78998 HGNC:28457 ENSG00000254389 RHPN1 antisense RNA 1 (head to head) RHPN1-AS1 MGC3113 Yes No Ensembl:ENSG00000254389, GeneCard:C8orf51, HGNC:HGNC:28457, NCBI Gene:78998, RefSeq DNA:NT_008046, RefSeq RNA:NR_026785 No chr8 144448793 144450805 143366623 143368635 +PA134979284 85415 HGNC:19974 ENSG00000131941 rhophilin Rho GTPase binding protein 2 RHPN2 rhophilin, Rho GTPase binding protein 2 Yes No Comparative Toxicogenomics Database:85415, Ensembl:ENSG00000131941, GeneCard:RHPN2, HGNC:HGNC:19974, HumanCyc Gene:HS05585, ModBase:Q8IUC4, NCBI Gene:85415, RefSeq DNA:NT_011109, RefSeq Protein:NP_149094, RefSeq RNA:NM_033103, UniProtKB:Q8IUC4 No chr19 33469498 33555824 32978592 33064918 +PA134903330 158787 HGNC:26537 ENSG00000158423 RIB43A domain with coiled-coils 1 RIBC1 FLJ32783 Yes No Ensembl:ENSG00000158423, GeneCard:RIBC1, HGNC:HGNC:26537, HumanCyc Gene:HS14713, ModBase:Q8N443, NCBI Gene:158787, RefSeq DNA:NT_011630, RefSeq Protein:NP_001026915, RefSeq Protein:NP_659405, RefSeq RNA:NM_001031745, RefSeq RNA:NM_144968, UniProtKB:Q8N443 No chrX 53449727 53458063 53422782 53431120 +PA134967342 26150 HGNC:13241 ENSG00000128408 RIB43A domain with coiled-coils 2 RIBC2 C22orf11, DKFZp566F0546, FLJ25720 Yes No Ensembl:ENSG00000128408, GeneCard:RIBC2, HGNC:HGNC:13241, HumanCyc Gene:HS13257, ModBase:Q9H4K1, NCBI Gene:26150, RefSeq DNA:NT_011520, RefSeq Protein:NP_056468, RefSeq RNA:NM_015653, UniProtKB:Q9H4K1 No chr22 45809572 45828302 45413691 45432422 +PA134884486 57589 HGNC:17686 ENSG00000107036 RIC1 homolog, RAB6A GEF complex partner 1 RIC1 RAB6A GEF complex partner 1 KIAA1432, bA207C16.1 Yes No Ensembl:ENSG00000107036, GeneCard:KIAA1432, HGNC:HGNC:17686, NCBI Gene:57589, OMIM:610354, RefSeq DNA:NT_008413, RefSeq Protein:NP_001129392, RefSeq Protein:NP_001193486, RefSeq Protein:NP_065880, RefSeq RNA:NM_001135920, RefSeq RNA:NM_001206557, RefSeq RNA:NM_020829, UniProtKB:B2RN24, UniProtKB:Q4ADV7 No chr9 5629031 5776557 5629030 5778633 +PA142671066 79608 HGNC:30338 ENSG00000166405 RIC3 acetylcholine receptor chaperone RIC3 resistance to inhibitors of cholinesterase 3 homolog (C. elegans) AYST720, FLJ11608, PRO1385 Yes No Ensembl:ENSG00000166405, GeneCard:RIC3, HGNC:HGNC:30338, HumanCyc Gene:HS15439, NCBI Gene:79608, OMIM:610509, RefSeq DNA:NT_009237, RefSeq Protein:NP_001128581, RefSeq Protein:NP_001193600, RefSeq Protein:NP_001193601, RefSeq Protein:NP_078833, RefSeq RNA:NM_001135109, RefSeq RNA:NM_001206671, RefSeq RNA:NM_001206672, RefSeq RNA:NM_024557, UniProtKB:Q7Z5B4 No chr11 8127597 8190590 8092965 8169088 +PA142671067 60626 HGNC:29550 ENSG00000177963 RIC8 guanine nucleotide exchange factor A RIC8A resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) synembryn, synembryn-A Yes No Ensembl:ENSG00000177963, GeneCard:RIC8A, HGNC:HGNC:29550, HumanCyc Gene:HS16955, NCBI Gene:60626, OMIM:609146, RefSeq DNA:NT_009237, RefSeq Protein:NP_068751, RefSeq RNA:NM_021932, UniProtKB:Q9NPQ8 No chr11 207499 215113 207511 215175 +PA142671064 55188 HGNC:25555 ENSG00000111785 RIC8 guanine nucleotide exchange factor B RIC8B resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) FLJ10620, RIC8, hSyn Yes No Ensembl:ENSG00000111785, GeneCard:RIC8B, HGNC:HGNC:25555, HumanCyc Gene:HS12749, NCBI Gene:55188, OMIM:609147, RefSeq DNA:NT_029419, RefSeq Protein:NP_060627, RefSeq RNA:NM_018157, UniProtKB:A2RTZ0 No chr12 107168077 107283094 106774285 106889316 +PA165660455 253260 HGNC:28611 ENSG00000164327 RPTOR independent companion of MTOR complex 2 RICTOR """RPTOR independent companion of MTOR, complex 2"", ""pianissimo"", ""rapamycin-insensitive companion of mTOR""" AVO3, KIAA1999, MGC39830, PIA Yes Yes Ensembl:ENSG00000164327, GeneCard:RICTOR, HGNC:HGNC:28611, NCBI Gene:253260, OMIM:609022, RefSeq DNA:NT_006576, RefSeq Protein:NP_689969, RefSeq RNA:NM_152756, UniProtKB:Q6R327 No chr5 38938022 39074505 38937920 39074421 +PA134890258 10247 HGNC:16897 ENSG00000132541 reactive intermediate imine deaminase A homolog RIDA heat-responsive protein 12, reactive intermediate/imine deaminase A homolog, translational inhibitor p14.5 HRSP12, P14.5, PSP, UK114 Yes No Comparative Toxicogenomics Database:10247, Ensembl:ENSG00000132541, GeneCard:HRSP12, HGNC:HGNC:16897, HumanCyc Gene:HS05653, ModBase:P52758, NCBI Gene:10247, OMIM:602487, RefSeq DNA:NT_008046, RefSeq Protein:NP_005827, RefSeq RNA:NM_005836, UniProtKB:P52758, UniProtKB:Q6IBG0 No chr8 99114567 99129418 98102339 98117190 +PA134933858 55183 HGNC:23207 ENSG00000080345 replication timing regulatory factor 1 RIF1 RAP1 interacting factor homolog (yeast) FLJ10599, FLJ12870 Yes No Comparative Toxicogenomics Database:55183, Ensembl:ENSG00000080345, GeneCard:RIF1, HGNC:HGNC:23207, ModBase:Q9H830, NCBI Gene:55183, OMIM:608952, RefSeq DNA:NG_017162, RefSeq DNA:NT_005403, RefSeq Protein:NP_001171134, RefSeq Protein:NP_001171135, RefSeq Protein:NP_001171136, RefSeq Protein:NP_060621, RefSeq RNA:NM_001177663, RefSeq RNA:NM_001177664, RefSeq RNA:NM_001177665, RefSeq RNA:NM_018151, UniProtKB:C9JBR1, UniProtKB:Q5UIP0 No chr2 152266397 152333860 151409883 151534200 +PA134994272 23586 HGNC:19102 ENSG00000107201 RNA sensor RIG-I RIGI Antiviral innate immune response receptor RIG-I, DEAD (Asp-Glu-Ala-Asp) box polypeptide 58, DExD/H-box helicase 58, RNA helicase RIG-I, retinoic acid inducible gene I DDX58, DKFZp434J1111, FLJ13599, RIG-1, RIG-I, RIG1 Yes Yes Comparative Toxicogenomics Database:23586, Ensembl:ENSG00000107201, GeneCard:DDX58, HGNC:HGNC:19102, HumanCyc Gene:HS02980, ModBase:O95786, NCBI Gene:23586, OMIM:609631, RefSeq DNA:NT_008413, RefSeq Protein:NP_055129, RefSeq RNA:NM_014314, UniProtKB:O95786 No chr9 32455300 32526322 32455302 32526324 +PA165750490 284485 HGNC:26686 ENSG00000178796 regulatory subunit of type II PKA R-subunit domain containing 1 RIIAD1 regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1 C1orf230, FLJ36032, NCRNA00166 Yes No Ensembl:ENSG00000178796, GeneCard:C1orf230, HGNC:HGNC:26686, NCBI Gene:284485, RefSeq DNA:NT_004487, RefSeq Protein:NP_001138428, RefSeq Protein:XP_001721404, RefSeq Protein:XP_371311, RefSeq Protein:XP_942155, RefSeq RNA:NM_001144956, RefSeq RNA:XM_001721352, RefSeq RNA:XM_371311, RefSeq RNA:XM_937062, UniProtKB:A6NNX1 No chr1 151694013 151702082 151721537 151729606 +PA134915969 83547 HGNC:30266 ENSG00000167705 Rab interacting lysosomal protein RILP FLJ31193 Yes No Ensembl:ENSG00000167705, GeneCard:RILP, HGNC:HGNC:30266, HumanCyc Gene:HS09612, ModBase:Q96NA2, NCBI Gene:83547, OMIM:607848, RefSeq DNA:NT_010718, RefSeq Protein:NP_113618, RefSeq RNA:NM_031430, UniProtKB:Q96NA2 No chr17 1549444 1553392 1646150 1650098 +PA162401302 353116 HGNC:26814 ENSG00000188026 Rab interacting lysosomal protein like 1 RILPL1 Rab interacting lysosomal protein-like 1 FLJ39378 Yes No Ensembl:ENSG00000188026, GeneCard:RILPL1, HGNC:HGNC:26814, ModBase:Q5EBL4, NCBI Gene:353116, RefSeq DNA:NT_009755, RefSeq Protein:NP_847884, RefSeq RNA:NM_178314, UniProtKB:Q5EBL4 No chr12 123955909 124018265 123471073 123533718 +PA162401325 196383 HGNC:28787 ENSG00000150977 Rab interacting lysosomal protein like 2 RILPL2 Rab interacting lysosomal protein-like 2 FLJ30380, FLJ32372, MGC7036 Yes No Ensembl:ENSG00000150977, GeneCard:RILPL2, HGNC:HGNC:28787, HumanCyc Gene:HS14344, ModBase:Q969X0, NCBI Gene:196383, RefSeq DNA:NT_009755, RefSeq Protein:NP_659495, RefSeq RNA:NM_145058, UniProtKB:Q969X0 No chr12 123899936 123921264 123408567 123436733 +PA143485594 23504 HGNC:30339 ENSG00000060709 RIMS binding protein 2 RIMBP2 protein phosphatase 1, regulatory subunit 133 KIAA0318, MGC15831, PPP1R133, RBP2, RIM-BP2 Yes No Comparative Toxicogenomics Database:23504, Ensembl:ENSG00000060709, GeneCard:RIMBP2, HGNC:HGNC:30339, ModBase:O15034, NCBI Gene:23504, OMIM:611602, RefSeq DNA:NT_009755, RefSeq Protein:NP_056162, RefSeq RNA:NM_015347, UniProtKB:O15034 No chr12 130880681 131200828 130396133 130716361 +PA162401326 85376 HGNC:29344 ENSG00000275793 RIMS binding protein 3 RIMBP3 KIAA1666, RIMBP3.1, RIMBP3A Yes No Ensembl:ENSG00000275793, GeneCard:RIMBP3, HGNC:HGNC:29344, ModBase:Q9UFD9, NCBI Gene:85376, OMIM:612699, RefSeq DNA:NT_011519, RefSeq Protein:NP_056487, RefSeq RNA:NM_015672 No chr22 20455991 20461786 18606124 18611919 +PA162401333 440804 HGNC:33891 ENSG00000274600 RIMS binding protein 3B RIMBP3B Yes No Ensembl:ENSG00000274600, GeneCard:RIMBP3B, HGNC:HGNC:33891, ModBase:A6NNM3, NCBI Gene:440804, OMIM:612700, RefSeq DNA:NT_011520, RefSeq Protein:NP_001122107, RefSeq RNA:NM_001128635 No chr22 21738040 21743458 21383751 21389169 +PA162401340 150221 HGNC:33892 ENSG00000183246 RIMS binding protein 3C RIMBP3C Yes No Ensembl:ENSG00000183246, GeneCard:RIMBP3C, HGNC:HGNC:33892, NCBI Gene:150221, OMIM:612701, RefSeq DNA:NT_011520, RefSeq Protein:NP_001122105, RefSeq RNA:NM_001128633 No chr22 21899955 21905750 21545666 21551461 +PA164725339 284716 HGNC:28725 ENSG00000177181 ribosomal modification protein rimK like family member A RIMKLA N-acetylaspartylglutamate synthetase II, ribosomal modification protein rimK-like family member A FAM80A, MGC47816, NAAGS-II, RP11-157D18.1 Yes No Ensembl:ENSG00000177181, GeneCard:RIMKLA, HGNC:HGNC:28725, HumanCyc Gene:HS16807, NCBI Gene:284716, RefSeq DNA:NT_032977, RefSeq Protein:NP_775913, RefSeq RNA:NM_173642, UniProtKB:Q8IXN7 No chr1 42846468 42889900 42380797 42425813 +PA164725354 57494 HGNC:29228 ENSG00000166532 ribosomal modification protein rimK like family member B RIMKLB Beta-citrylglutamate synthase B, N-acetylaspartyl-glutamate synthetase, ribosomal modification protein rimK-like family member B FAM80B, KIAA1238, NAAGS, NAAGS-I Yes No Ensembl:ENSG00000166532, GeneCard:RIMKLB, HGNC:HGNC:29228, ModBase:Q9ULI2, NCBI Gene:57494, RefSeq DNA:NT_009714, RefSeq Protein:NP_065785, RefSeq RNA:NM_020734, UniProtKB:Q9ULI2 No chr12 8834273 8935688 8681606 8783098 +PA35526 54031 HGNC:34034 ENSG00000189089 ribosomal modification protein rimK-like family member B pseudogene 1 RIMKLBP1 Yes No Ensembl:ENSG00000189089, GenAtlas:RIMKLP, GeneCard:RIMKLBP1, HGNC:HGNC:34034, NCBI Gene:54031, RefSeq DNA:NG_000912, RefSeq DNA:NT_011512 No chr21 37422358 37424397 36050160 36052187 +PA166352084 285636 HGNC:27750 RAB7A interacting MON1-CCZ1 complex subunit 1 RIMOC1 C5orf51 LOC285636 Yes No HGNC:HGNC:27750, NCBI Gene:285636 No 0 0 0 0 +PA38220 22999 HGNC:17282 ENSG00000079841 regulating synaptic membrane exocytosis 1 RIMS1 Rab3-interacting molecule CORD7, KIAA0340, RAB3IP2, RIM, RIM1 Yes Yes Comparative Toxicogenomics Database:22999, Ensembl:ENSG00000079841, GenAtlas:RIMS1, GeneCard:RIMS1, HGNC:HGNC:17282, HumanCyc Gene:HS01340, ModBase:Q9HBA2, NCBI Gene:22999, OMIM:603649, OMIM:606629, RefSeq DNA:NG_016209, RefSeq DNA:NT_007299, RefSeq Protein:NP_001161879, RefSeq Protein:NP_001161880, RefSeq Protein:NP_001161881, RefSeq Protein:NP_001161882, RefSeq Protein:NP_001161883, RefSeq Protein:NP_055804, RefSeq RNA:NM_001168407, RefSeq RNA:NM_001168408, RefSeq RNA:NM_001168409, RefSeq RNA:NM_001168410, RefSeq RNA:NM_001168411, RefSeq RNA:NM_014989, UCSC Genome Browser:NM_014989, UniProtKB:B7Z2Q9, UniProtKB:B7Z3S3, UniProtKB:B7Z6S2, UniProtKB:B7Z9Z3, UniProtKB:Q3ZCW0, UniProtKB:Q86UR5 No chr6 72596406 73112845 71886703 72403143 +PA38445 9699 HGNC:17283 ENSG00000176406 regulating synaptic membrane exocytosis 2 RIMS2 KIAA0751, OBOE, RAB3IP3, RIM2 Yes No Ensembl:ENSG00000176406, GenAtlas:RIMS2, GeneCard:RIMS2, HGNC:HGNC:17283, ModBase:Q9UQ26, NCBI Gene:9699, OMIM:606630, RefSeq DNA:NT_008046, RefSeq Protein:NP_001093587, RefSeq Protein:NP_055492, RefSeq RNA:NM_001100117, RefSeq RNA:NM_014677, UCSC Genome Browser:NM_014677, UniProtKB:B3KX91, UniProtKB:Q9UQ26 No chr8 104512426 105266656 103500026 104254430 +PA134980870 9783 HGNC:21292 ENSG00000117016 regulating synaptic membrane exocytosis 3 RIMS3 NIM3, RIM3 Yes No Comparative Toxicogenomics Database:9783, Ensembl:ENSG00000117016, GeneCard:RIMS3, HGNC:HGNC:21292, HumanCyc Gene:HS04085, ModBase:Q9UJD0, NCBI Gene:9783, OMIM:611600, RefSeq DNA:NT_032977, RefSeq Protein:NP_055562, RefSeq RNA:NM_014747, UniProtKB:Q9UJD0 No chr1 41086352 41131324 40620680 40692104 +PA25733 140730 HGNC:16183 ENSG00000101098 regulating synaptic membrane exocytosis 4 RIMS4 C20orf190, dJ781B1.3 Yes No Ensembl:ENSG00000101098, GeneCard:RIMS4, HGNC:HGNC:16183, HumanCyc Gene:HS12437, ModBase:Q9H426, NCBI Gene:140730, OMIM:611601, RefSeq DNA:NT_011362, RefSeq Protein:NP_001192246, RefSeq Protein:NP_892015, RefSeq RNA:NM_001205317, RefSeq RNA:NM_182970, UniProtKB:Q9H426 No chr20 43380445 43438979 44751804 44810338 +PA38671 9610 HGNC:18749 ENSG00000174791 Ras and Rab interactor 1 RIN1 Yes No Comparative Toxicogenomics Database:9610, Ensembl:ENSG00000174791, GenAtlas:RIN1, GeneCard:RIN1, HGNC:HGNC:18749, HumanCyc Gene:HS10831, ModBase:Q13671, NCBI Gene:9610, OMIM:605965, RefSeq DNA:NT_167190, RefSeq Protein:NP_004283, RefSeq RNA:NM_004292, UCSC Genome Browser:NM_004292, UniProtKB:Q13671 No chr11 66099535 66104000 66332063 66337235 +PA38672 54453 HGNC:18750 ENSG00000132669 Ras and Rab interactor 2 RIN2 RASSF4 Yes No Ensembl:ENSG00000132669, GenAtlas:RIN2, GeneCard:RIN2, HGNC:HGNC:18750, HumanCyc Gene:HS05670, ModBase:Q8WYP3, NCBI Gene:54453, OMIM:610222, OMIM:613075, RefSeq DNA:NG_016310, RefSeq DNA:NT_011387, RefSeq Protein:NP_001229510, RefSeq Protein:NP_061866, RefSeq RNA:NM_001242581, RefSeq RNA:NM_018993, UCSC Genome Browser:NM_018993, UniProtKB:Q8WYP3 No chr20 19738254 19983103 19757610 20002459 +PA38673 79890 HGNC:18751 ENSG00000100599 Ras and Rab interactor 3 RIN3 FLJ22439 Yes No Comparative Toxicogenomics Database:79890, Ensembl:ENSG00000100599, GenAtlas:RIN3, GeneCard:RIN3, HGNC:HGNC:18751, HumanCyc Gene:HS02118, ModBase:Q8TB24, NCBI Gene:79890, OMIM:610223, RefSeq DNA:NT_026437, RefSeq Protein:NP_079108, RefSeq RNA:NM_024832, UCSC Genome Browser:NM_024832, UniProtKB:Q86U22, UniProtKB:Q8TB24 No chr14 92980125 93155339 92513773 92688994 +PA34393 6015 HGNC:10018 ENSG00000204227, ENSG00000206287, ENSG00000226788, ENSG00000228520, ENSG00000231115, ENSG00000235107 ring finger protein 1 RING1 RNF1 Yes No Ensembl:ENSG00000204227, Ensembl:ENSG00000206287, Ensembl:ENSG00000226788, Ensembl:ENSG00000228520, Ensembl:ENSG00000231115, Ensembl:ENSG00000235107, GenAtlas:RING1, GeneCard:RING1, HGNC:HGNC:10018, HumanCyc Gene:HS03576, ModBase:Q06587, NCBI Gene:6015, OMIM:602045, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_002922, RefSeq RNA:NM_002931, UCSC Genome Browser:NM_002931, UniProtKB:A8JZZ0, UniProtKB:Q06587 No chr6 33176286 33180499 33208509 33212722 +PA162401347 126432 HGNC:24795 ENSG00000187994 Ras and Rab interactor like RINL Ras and Rab interactor-like FLJ45909 Yes No Ensembl:ENSG00000187994, GeneCard:RINL, HGNC:HGNC:24795, ModBase:Q6ZS11, NCBI Gene:126432, RefSeq DNA:NT_011109, RefSeq Protein:NP_001182762, RefSeq Protein:NP_940847, RefSeq RNA:NM_001195833, RefSeq RNA:NM_198445, UniProtKB:Q6ZS11 No chr19 39358470 39368919 38867829 38878279 +PA143485595 60561 HGNC:21876 ENSG00000135249 RAD50 interactor 1 RINT1 FLJ11785, RINT-1 Yes No Comparative Toxicogenomics Database:60561, Ensembl:ENSG00000135249, GeneCard:RINT1, HGNC:HGNC:21876, HumanCyc Gene:HS13567, ModBase:Q6NUQ1, NCBI Gene:60561, OMIM:610089, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_068749, RefSeq RNA:NM_021930, UniProtKB:Q6NUQ1 No chr7 105172532 105208131 105532085 105567688 +PA134928236 83732 HGNC:18656 ENSG00000124784 RIO kinase 1 RIOK1 AD034, FLJ30006, RRP10, bA288G3.1 Yes No Ensembl:ENSG00000124784, GeneCard:RIOK1, HGNC:HGNC:18656, HumanCyc Gene:HS04833, ModBase:Q9BRS2, NCBI Gene:83732, RefSeq DNA:NT_007592, RefSeq Protein:NP_113668, RefSeq Protein:NP_694550, RefSeq RNA:NM_031480, RefSeq RNA:NM_153005, UniProtKB:Q9BRS2, UniProtKB:Q9H2L9 No chr6 7390062 7418270 7389816 7418037 +PA134885533 55781 HGNC:18999 ENSG00000058729 RIO kinase 2 RIOK2 FLJ11159 Yes No Ensembl:ENSG00000058729, GeneCard:RIOK2, HGNC:HGNC:18999, HumanCyc Gene:HS00725, ModBase:Q9BVS4, NCBI Gene:55781, RefSeq DNA:NT_034772, RefSeq Protein:NP_001153221, RefSeq Protein:NP_060813, RefSeq RNA:NM_001159749, RefSeq RNA:NM_018343, UniProtKB:D6RDI3, UniProtKB:Q9BVS4 No chr5 96496571 96519005 97160867 97183301 +PA36248 8780 HGNC:11451 ENSG00000101782 RIO kinase 3 RIOK3 SUDD Yes No Comparative Toxicogenomics Database:8780, Ensembl:ENSG00000101782, GeneCard:RIOK3, HGNC:HGNC:11451, HumanCyc Gene:HS02302, ModBase:O14730, NCBI Gene:8780, OMIM:603579, RefSeq DNA:NT_010966, RefSeq Protein:NP_003822, RefSeq RNA:NM_003831, UCSC Genome Browser:NM_003831, UniProtKB:B0YJ89, UniProtKB:O14730 No chr18 21032787 21063104 23452823 23483140 +PA134919088 79697 HGNC:20968 ENSG00000170468 ribosomal oxygenase 1 RIOX1 Myc-associated protein with JmjC domain, chromosome 14 open reading frame 169, nucleolar protein 66 C14orf169, FLJ21802, JMJD9, MAPJD, NO66 Yes No Ensembl:ENSG00000170468, GeneCard:C14orf169, HGNC:HGNC:20968, HumanCyc Gene:HS15881, ModBase:Q9H6W3, NCBI Gene:79697, OMIM:611919, RefSeq DNA:NT_026437, RefSeq Protein:NP_078920, RefSeq RNA:NM_024644, UniProtKB:Q9H6W3 No chr14 73957644 73960105 73490934 73493401 +PA134991047 84864 HGNC:19441 ENSG00000170854 ribosomal oxygenase 2 RIOX2 MYC induced nuclear antigen FLJ14393, JMJD10, MINA, MINA53, NO52, mdig Yes No Comparative Toxicogenomics Database:84864, Ensembl:ENSG00000170854, GeneCard:MINA, HGNC:HGNC:19441, HumanCyc Gene:HS15922, ModBase:Q8IUF8, NCBI Gene:84864, OMIM:612049, RefSeq DNA:NT_005612, RefSeq Protein:NP_001035998, RefSeq Protein:NP_116167, RefSeq Protein:NP_694822, RefSeq RNA:NM_001042533, RefSeq RNA:NM_032778, RefSeq RNA:NM_153182, UniProtKB:Q8IUF8 No chr3 97660661 97691295 97941817 97972451 +PA34394 8737 HGNC:10019 ENSG00000137275 receptor interacting serine/threonine kinase 1 RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1, receptor-interacting protein kinase 1 RIP, RIP-1, RIP1 Yes No Comparative Toxicogenomics Database:8737, Ensembl:ENSG00000137275, GenAtlas:RIPK1, GeneCard:RIPK1, HGNC:HGNC:10019, HumanCyc Gene:HS06304, ModBase:Q13546, NCBI Gene:8737, OMIM:603453, RefSeq DNA:NT_007592, RefSeq Protein:NP_003795, RefSeq RNA:NM_003804, UCSC Genome Browser:NM_003804, UniProtKB:Q13546 No chr6 3064201 3115421 3063888 3115187 +PA34395 8767 HGNC:10020 ENSG00000104312 receptor interacting serine/threonine kinase 2 RIPK2 receptor-interacting serine-threonine kinase 2 CARD3, CARDIAK, RICK, RIP2 Yes No Comparative Toxicogenomics Database:8767, Ensembl:ENSG00000104312, GenAtlas:RIPK2, GeneCard:RIPK2, HGNC:HGNC:10020, HumanCyc Gene:HS02560, ModBase:O43353, NCBI Gene:8767, OMIM:603455, RefSeq DNA:NT_008046, RefSeq Protein:NP_003812, RefSeq RNA:NM_003821, UCSC Genome Browser:NM_003821, UniProtKB:O43353 No chr8 90769335 90803292 89757747 89791064 +PA34396 11035 HGNC:10021 ENSG00000129465 receptor interacting serine/threonine kinase 3 RIPK3 receptor-interacting serine-threonine kinase 3 RIP3 Yes No Comparative Toxicogenomics Database:11035, Ensembl:ENSG00000129465, GenAtlas:RIPK3, GeneCard:RIPK3, HGNC:HGNC:10021, HumanCyc Gene:HS05280, ModBase:Q9Y572, NCBI Gene:11035, OMIM:605817, RefSeq DNA:NT_026437, RefSeq Protein:NP_006862, RefSeq RNA:NM_006871, UCSC Genome Browser:NM_006871, UniProtKB:Q9Y572 No chr14 24805227 24809242 24336021 24340036 +PA24805 54101 HGNC:496 ENSG00000183421 receptor interacting serine/threonine kinase 4 RIPK4 PKC-delta-interacting protein kinase, protein kinase C-associated kinase, receptor-interacting serine-threonine kinase 4 ANKK2, ANKRD3, DIK, PKK, RIP4 Yes No Ensembl:ENSG00000183421, GenAtlas:RIPK4, GeneCard:RIPK4, HGNC:HGNC:496, HumanCyc Gene:HS11966, ModBase:P57078, NCBI Gene:54101, OMIM:605706, RefSeq DNA:NT_011515, RefSeq Protein:NP_065690, RefSeq RNA:NM_020639, UCSC Genome Browser:NM_020639, UniProtKB:Q96T11, UniProtKB:Q9H4D1 No chr21 43159529 43187249 41739369 41767089 +PA142671875 79567 HGNC:25836 ENSG00000039523 RHO family interacting cell polarization regulator 1 RIPOR1 family with sequence similarity 65, member A FAM65A, FLJ13725 Yes No Comparative Toxicogenomics Database:79567, Ensembl:ENSG00000039523, GeneCard:FAM65A, HGNC:HGNC:25836, HumanCyc Gene:HS12089, ModBase:Q6ZS17, NCBI Gene:79567, RefSeq DNA:NT_010498, RefSeq Protein:NP_001180451, RefSeq Protein:NP_001180452, RefSeq Protein:NP_001180453, RefSeq Protein:NP_078795, RefSeq RNA:NM_001193522, RefSeq RNA:NM_001193523, RefSeq RNA:NM_001193524, RefSeq RNA:NM_024519, UniProtKB:Q6ZS17 No chr16 67562717 67580691 67528814 67546788 +PA162387677 9750 HGNC:13872 ENSG00000111913 RHO family interacting cell polarization regulator 2 RIPOR2 """family with sequence similarity 65, member B"", ""myogenesis-related and NCAM-associated protein homolog (chicken)""" C6orf32, DIFF48, FAM65B, KIAA0386, MYONAP Yes Yes Ensembl:ENSG00000111913, GeneCard:FAM65B, HGNC:HGNC:13872, HumanCyc Gene:HS12760, ModBase:Q9Y4F9, NCBI Gene:9750, OMIM:611410, RefSeq DNA:NT_007592, RefSeq Protein:NP_055537, RefSeq Protein:NP_056948, RefSeq RNA:NM_014722, RefSeq RNA:NM_015864, UniProtKB:Q9Y4F9 No chr6 24804512 24936275 24804281 25042288 +PA162387710 140876 HGNC:16168 ENSG00000042062 RIPOR family member 3 RIPOR3 family with sequence similarity 65, member C C20orf175, C20orf176, FAM65C, dJ530I15.2, dJ530I15.3 Yes No Ensembl:ENSG00000042062, GeneCard:FAM65C, HGNC:HGNC:16168, HumanCyc Gene:HS12096, ModBase:Q96MK2, NCBI Gene:140876, RefSeq DNA:NT_011362, RefSeq Protein:NP_543019, RefSeq RNA:NM_080829, UniProtKB:Q96MK2 No chr20 49202645 49308277 50586108 50692004 +PA162401348 92129 HGNC:25117 ENSG00000147223 ripply transcriptional repressor 1 RIPPLY1 ripply1 homolog (zebrafish) Yes No Ensembl:ENSG00000147223, GeneCard:RIPPLY1, HGNC:HGNC:25117, NCBI Gene:92129, OMIM:300575, RefSeq DNA:NG_022934, RefSeq DNA:NT_011651, RefSeq Protein:NP_001165177, RefSeq Protein:NP_612391, RefSeq RNA:NM_001171706, RefSeq RNA:NM_138382, UniProtKB:Q0D2K3 No chrX 106143293 106146561 106900063 106903331 +PA162401349 134701 HGNC:21390 ENSG00000203877 ripply transcriptional repressor 2 RIPPLY2 ripply2 homolog (zebrafish) C6orf159, dJ237I15.1 Yes No Ensembl:ENSG00000203877, GeneCard:RIPPLY2, HGNC:HGNC:21390, NCBI Gene:134701, OMIM:609891, RefSeq DNA:NT_007299, RefSeq Protein:NP_001009994, RefSeq RNA:NM_001009994, UniProtKB:Q5TAB7 No chr6 84562985 84567234 83853266 83857515 +PA27499 53820 HGNC:3047 ENSG00000183145 ripply transcriptional repressor 3 RIPPLY3 Down syndrome critical region gene 6 DSCR6 Yes No Ensembl:ENSG00000183145, GenAtlas:DSCR6, GeneCard:DSCR6, HGNC:HGNC:3047, NCBI Gene:53820, OMIM:609892, RefSeq DNA:NT_011512, RefSeq Protein:NP_061835, RefSeq RNA:NM_018962, UCSC Genome Browser:NM_018962, UniProtKB:P57055 No chr21 38378456 38391959 37006150 37019659 +PA35528 6016 HGNC:10023 ENSG00000143622 Ras like without CAAX 1 RIT1 """GTP-binding protein Roc1"", ""Ras-like without CAAX 1"", ""Ric-like, expressed in many tissues""" MGC125864, MGC125865, RIBB, RIT, ROC1 Yes No Comparative Toxicogenomics Database:6016, Ensembl:ENSG00000143622, GenAtlas:RIT1, GeneCard:RIT1, HGNC:HGNC:10023, HumanCyc Gene:HS07087, ModBase:Q92963, NCBI Gene:6016, OMIM:609591, RefSeq DNA:NT_004487, RefSeq Protein:NP_008843, RefSeq RNA:NM_006912, UCSC Genome Browser:NM_006912, UniProtKB:Q5VY90, UniProtKB:Q92963 No chr1 155867599 155881193 155897808 155911402 +PA35527 6014 HGNC:10017 ENSG00000152214 Ras like without CAAX 2 RIT2 Ras-like without CAAX 2 RIBA, RIN Yes No Comparative Toxicogenomics Database:6014, Ensembl:ENSG00000152214, GenAtlas:RIT2, GeneCard:RIT2, HGNC:HGNC:10017, HumanCyc Gene:HS07797, ModBase:Q99578, NCBI Gene:6014, OMIM:609592, RefSeq DNA:NT_010966, RefSeq Protein:NP_002921, RefSeq RNA:NM_002930, UCSC Genome Browser:NM_002930, UniProtKB:Q99578 No chr18 40323183 40695676 42743218 43115692 +PA143485381 84934 HGNC:25925 ENSG00000139405 RBPJ interacting and tubulin associated 1 RITA1 RBP-J interacting and tubulin associated, chromosome 12 open reading frame 52 C12orf52, FLJ14827, RITA Yes No Ensembl:ENSG00000139405, GeneCard:C12orf52, HGNC:HGNC:25925, HumanCyc Gene:HS13778, ModBase:Q96K30, NCBI Gene:84934, RefSeq DNA:NT_009775, RefSeq Protein:NP_116237, RefSeq RNA:NM_032848, UniProtKB:Q96K30 No chr12 113623342 113630169 113185526 113192368 +PA34397 6017 HGNC:10024 ENSG00000140522 retinaldehyde binding protein 1 RLBP1 CRALBP Yes No Comparative Toxicogenomics Database:6017, Ensembl:ENSG00000140522, GenAtlas:RLBP1, GeneCard:RLBP1, HGNC:HGNC:10024, HumanCyc Gene:HS06733, ModBase:P12271, NCBI Gene:6017, OMIM:136880, OMIM:180090, OMIM:268000, OMIM:607475, OMIM:607476, RefSeq DNA:NG_008116, RefSeq DNA:NT_010274, RefSeq Protein:NP_000317, RefSeq RNA:NM_000326, UCSC Genome Browser:NM_000326, UniProtKB:P12271 No chr15 89753098 89764922 89209867 89223179 +PA34398 6018 HGNC:10025 ENSG00000117000 RLF zinc finger RLF rearranged L-myc fusion ZNF292L, Zn-15L Yes No Comparative Toxicogenomics Database:6018, Ensembl:ENSG00000117000, GenAtlas:RLF, GeneCard:RLF, HGNC:HGNC:10025, HumanCyc Gene:HS04081, ModBase:Q13129, NCBI Gene:6018, OMIM:180610, RefSeq DNA:NT_032977, RefSeq Protein:NP_036553, RefSeq RNA:NM_012421, UCSC Genome Browser:NM_012421, UniProtKB:Q13129 No chr1 40627041 40706593 40161369 40240921 +PA142671062 57008 HGNC:16738 rearranged L-myc fusion pseudogene 1 RLFP1 Yes No HGNC:HGNC:16738, NCBI Gene:57008, RefSeq DNA:NG_001289 No chr4 117016648 117018256 116095492 116097100 +PA143485359 91298 HGNC:25322 ENSG00000133641 RNA 5'-phosphate and 3'-OH ligase 1 RLIG1 chromosome 12 open reading frame 29 C12orf29, DKFZp434N2030 Yes No Ensembl:ENSG00000133641, GeneCard:C12orf29, HGNC:HGNC:25322, NCBI Gene:91298, RefSeq DNA:NT_029419, RefSeq Protein:NP_001009894, RefSeq RNA:NM_001009894, UniProtKB:Q8N999 No chr12 88429268 88443937 88035491 88050160 +PA164725373 51132 HGNC:13429 ENSG00000131263 ring finger protein, LIM domain interacting RLIM E3 ubiquitin-protein ligase RLIM, LIM domain interacting ring finger protein, ring zinc finger protein NY-REN-43antigen MGC15161, NY-REN-43, RNF12 Yes No Ensembl:ENSG00000131263, GeneCard:RLIM, HGNC:HGNC:13429, HumanCyc Gene:HS05508, NCBI Gene:51132, OMIM:300379, RefSeq DNA:NG_013258, RefSeq DNA:NT_011669, RefSeq Protein:NP_057204, RefSeq Protein:NP_899196, RefSeq RNA:NM_016120, RefSeq RNA:NM_183353, UniProtKB:Q9NVW2 No chrX 73802811 73834461 74582976 74614626 +PA34399 6013 HGNC:10026 ENSG00000107018 relaxin 1 RLN1 prorelaxin H1 H1 Yes No Ensembl:ENSG00000107018, GenAtlas:RLN1, GeneCard:RLN1, HGNC:HGNC:10026, HumanCyc Gene:HS02968, NCBI Gene:6013, OMIM:179730, RefSeq DNA:NT_008413, RefSeq Protein:NP_008842, RefSeq RNA:NM_006911, UCSC Genome Browser:NM_006911, UniProtKB:P04808 No chr9 5307637 5339873 5306937 5339883 +PA34400 6019 HGNC:10027 ENSG00000107014 relaxin 2 RLN2 """prorelaxin H2"", ""relaxin H2"", ""relaxin, ovarian, of pregnancy""" H2, RLXH2, bA12D24.1.1, bA12D24.1.2 Yes No Comparative Toxicogenomics Database:6019, Ensembl:ENSG00000107014, GenAtlas:RLN2, GeneCard:RLN2, HGNC:HGNC:10027, HumanCyc Gene:HS02967, ModBase:P04090, NCBI Gene:6019, OMIM:179740, RefSeq DNA:NT_008413, RefSeq Protein:NP_005050, RefSeq Protein:NP_604390, RefSeq RNA:NM_005059, RefSeq RNA:NM_134441, UCSC Genome Browser:NM_005059, UniProtKB:P04090 No chr9 5299864 5304611 5299864 5306134 +PA34401 117579 HGNC:17135 ENSG00000171136 relaxin 3 RLN3 prorelaxin H3 H3, RXN3, ZINS4 Yes No Ensembl:ENSG00000171136, GenAtlas:RLN3, GeneCard:RLN3, HGNC:HGNC:17135, HumanCyc Gene:HS10255, ModBase:Q8WXF3, NCBI Gene:117579, OMIM:606855, RefSeq DNA:NT_011295, RefSeq Protein:NP_543140, RefSeq RNA:NM_080864, UCSC Genome Browser:NM_080864, UniProtKB:Q8WXF3 No chr19 14139017 14141783 14028148 14031558 +PA134862561 29919 HGNC:24326 ENSG00000141452 regulator of MON1-CCZ1 RMC1 chromosome 18 open reading frame 8, colon cancer associated protein Mic1, macrophage inhibitory cytokine 1 C18orf8, HsT2591, MIC-1, MIC1, WDR98 Yes No Ensembl:ENSG00000141452, GeneCard:C18orf8, HGNC:HGNC:24326, HumanCyc Gene:HS13882, ModBase:Q96DM3, NCBI Gene:29919, RefSeq DNA:NT_010966, RefSeq Protein:NP_037458, RefSeq RNA:NM_013326, UniProtKB:Q96DM3 No chr18 21083434 21113311 23503470 23531807 +PA142671849 51115 HGNC:24285 ENSG00000176623 regulator of microtubule dynamics 1 RMDN1 CGI-90, FAM82B, FLJ20665, RMD1 Yes No Ensembl:ENSG00000176623, GeneCard:FAM82B, HGNC:HGNC:24285, HumanCyc Gene:HS16696, ModBase:Q96DB5, NCBI Gene:51115, OMIM:611871, RefSeq DNA:NT_008046, RefSeq Protein:NP_057117, RefSeq RNA:NM_016033, UniProtKB:Q96DB5 No chr8 87479627 87526567 86467116 86514348 +PA162387925 151393 HGNC:26567 ENSG00000115841 regulator of microtubule dynamics 2 RMDN2 FAM82A, FAM82A1, FLJ32954, RMD2 Yes No Ensembl:ENSG00000115841, GeneCard:FAM82A1, HGNC:HGNC:26567, HumanCyc Gene:HS12856, NCBI Gene:151393, OMIM:611872, RefSeq DNA:NT_022184, RefSeq Protein:NP_001164262, RefSeq Protein:NP_001164263, RefSeq Protein:NP_001164264, RefSeq Protein:NP_653314, RefSeq RNA:NM_001170791, RefSeq RNA:NM_001170792, RefSeq RNA:NM_001170793, RefSeq RNA:NM_144713, UniProtKB:Q96LZ7 No chr2 38152462 38294285 37920789 38068032 +PA162387926 55177 HGNC:25550 ENSG00000137824 regulator of microtubule dynamics 3 RMDN3 FAM82A2, FAM82C, FLJ10579, PTPIP51, RMD3 Yes No Ensembl:ENSG00000137824, GeneCard:FAM82A2, HGNC:HGNC:25550, HumanCyc Gene:HS13699, ModBase:Q96TC7, NCBI Gene:55177, OMIM:611873, RefSeq DNA:NT_010194, RefSeq Protein:NP_060615, RefSeq RNA:NM_018145, UniProtKB:Q96TC7 No chr15 41028085 41047458 40735884 40755336 +PA134939007 80010 HGNC:25764 ENSG00000178966 RecQ mediated genome instability 1 RMI1 """BLM-Associated Polypeptide, 75 kDa"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)""" BLAP75, C9orf76, FLJ12888 Yes No Comparative Toxicogenomics Database:80010, Ensembl:ENSG00000178966, GeneCard:RMI1, HGNC:HGNC:25764, HumanCyc Gene:HS17167, NCBI Gene:80010, OMIM:610404, RefSeq DNA:NT_008470, RefSeq Protein:NP_079221, RefSeq RNA:NM_024945, UniProtKB:Q9H9A7 No chr9 86595321 86618989 83980722 84004074 +PA145149635 116028 HGNC:28349 ENSG00000175643 RecQ mediated genome instability 2 RMI2 RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae) BLAP18, C16orf75, MGC24665 Yes No Ensembl:ENSG00000175643, GeneCard:C16orf75, HGNC:HGNC:28349, HumanCyc Gene:HS16482, ModBase:Q96E14, NCBI Gene:116028, OMIM:612426, RefSeq DNA:NT_010393, RefSeq Protein:NP_689521, RefSeq RNA:NM_152308, UniProtKB:Q96E14 No chr16 11439311 11445617 11345438 11351763 +PA162401372 55005 HGNC:21176 ENSG00000155906 required for meiotic nuclear division 1 homolog RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) C6orf96, FLJ20627, RMD1, bA351K16.3 Yes No Ensembl:ENSG00000155906, GeneCard:RMND1, HGNC:HGNC:21176, HumanCyc Gene:HS14590, ModBase:Q9NWS8, NCBI Gene:55005, RefSeq DNA:NT_025741, RefSeq Protein:NP_060379, RefSeq RNA:NM_017909, UniProtKB:Q9NWS8 No chr6 151725897 151773316 151404548 151452181 +PA144596388 64795 HGNC:25850 ENSG00000153561 required for meiotic nuclear division 5 homolog A RMND5A 44-kD protein coding for CTLH motif, GID complex subunit 2 homolog A, required for meiotic nuclear division 5 homolog A (S. cerevisiae) FLJ13910, GID2, GID2A, RMD5, p44CTLH Yes No Comparative Toxicogenomics Database:64795, Ensembl:ENSG00000153561, GeneCard:RMND5A, HGNC:HGNC:25850, HumanCyc Gene:HS14477, ModBase:Q9H871, NCBI Gene:64795, RefSeq DNA:NT_022184, RefSeq Protein:NP_073617, RefSeq RNA:NM_022780, UniProtKB:Q9H871 No chr2 86947414 87005164 86720291 86778041 +PA144596389 64777 HGNC:26181 ENSG00000145916 required for meiotic nuclear division 5 homolog B RMND5B GID complex subunit 2 homolog B, required for meiotic nuclear division 5 homolog B (S. cerevisiae) FLJ22318, GID2, GID2B Yes No Ensembl:ENSG00000145916, GeneCard:RMND5B, HGNC:HGNC:26181, HumanCyc Gene:HS14116, ModBase:Q96G75, NCBI Gene:64777, RefSeq DNA:NT_023133, RefSeq Protein:NP_073599, RefSeq RNA:NM_022762, UniProtKB:Q96G75 No chr5 177558002 177575567 178130532 178148570 +PA34404 6023 HGNC:10031 ENSG00000269900 RNA component of mitochondrial RNA processing endoribonuclease RMRP NME1, RMRPR, RRP2 Yes No Comparative Toxicogenomics Database:6023, Ensembl:ENSG00000269900, GenAtlas:RMRP, GeneCard:RMRP, HGNC:HGNC:10031, HumanCyc Gene:HS11810, NCBI Gene:6023, OMIM:157660, OMIM:250250, OMIM:250460, OMIM:607095, RefSeq DNA:NG_017041, RefSeq DNA:NT_008413, RefSeq RNA:NR_003051 No chr9 35657748 35658015 35657751 35658018 +PA143485596 196475 HGNC:29893 ENSG00000255794 rhabdomyosarcoma 2 associated transcript (non-protein coding) RMST long intergenic non-protein coding RNA 54, non-protein coding RNA 54 LINC00054, NCRMS, NCRNA00054 Yes No Ensembl:ENSG00000255794, GeneCard:RMST, HGNC:HGNC:29893, HumanCyc Gene:HS11708, NCBI Gene:196475, OMIM:607045, RefSeq DNA:NT_029419, RefSeq RNA:NR_024037 No chr12 97856554 97987820 97465021 97533766 +PA34405 125050 HGNC:10037 ENSG00000283293 RNA, 7SK small nuclear RN7SK 7SK Yes No Ensembl:ENSG00000283293, GenAtlas:RN7SK, GeneCard:RN7SK, HGNC:HGNC:10037, HumanCyc Gene:HS11706, NCBI Gene:125050, OMIM:606515, RefSeq DNA:NT_007592, RefSeq RNA:NR_001445 No chr6 52860418 52860749 52995620 52995951 +PA34406 6029 HGNC:10038 ENSG00000276168 RNA, 7SL, cytoplasmic 1 RN7SL1 7L1a, 7SL, RNSRP1 Yes No Ensembl:ENSG00000276168, GenAtlas:RN7SL1, GeneCard:RN7SL1, HGNC:HGNC:10038, NCBI Gene:6029, OMIM:612177, RefSeq DNA:NT_026437, RefSeq RNA:NR_002715 No chr14 50053298 50053596 49586580 49586878 +PA134926014 378706 HGNC:23134 ENSG00000274012 RNA, 7SL, cytoplasmic 2 RN7SL2 7L30.1, 7SL1c, RNSRP2 Yes No Ensembl:ENSG00000274012, GeneCard:RN7SL2, HGNC:HGNC:23134, NCBI Gene:378706, OMIM:612179, RefSeq DNA:NT_026437, RefSeq RNA:NR_027260 No chr14 50329269 50329567 49862551 49862849 +PA134976393 378707 HGNC:23135 ENSG00000278771 RNA, 7SL, cytoplasmic 3 RN7SL3 7L30.2, RNSRP3 Yes No Ensembl:ENSG00000278771, GeneCard:RN7SL3, HGNC:HGNC:23135, NCBI Gene:378707, OMIM:612180, RefSeq DNA:NG_011406, RefSeq DNA:NT_026437 No chr14 50320334 50320632 49853616 49853914 +PA34407 6030 HGNC:10039 ENSG00000263740 RNA, 7SL, cytoplasmic 4, pseudogene RN7SL4P 7L28 Yes No Ensembl:ENSG00000263740, GenAtlas:RN7SLP1, GeneCard:RN7SL4P, HGNC:HGNC:10039, NCBI Gene:6030, RefSeq DNA:NG_002425, RefSeq DNA:NT_022517 No chr3 +PA34408 6031 HGNC:10040 ENSG00000265735 RNA, 7SL, cytoplasmic 5, pseudogene RN7SL5P 7LEM1 Yes No Ensembl:ENSG00000265735, GenAtlas:RN7SLP2, GeneCard:RN7SL5P, HGNC:HGNC:10040, NCBI Gene:6031, RefSeq DNA:NG_002426, RefSeq DNA:NT_008413 No chr9 9441998 9442310 9441998 9442310 +PA34409 6032 HGNC:10041 RNA, 7SL, cytoplasmic 6, pseudogene RN7SL6P 7L7 Yes No GenAtlas:RN7SLP3, GeneCard:RN7SL6P, HGNC:HGNC:10041, NCBI Gene:6032, RefSeq DNA:NG_002427, RefSeq DNA:NT_011520 No chr22 +PA34410 6033 HGNC:10042 ENSG00000266794 RNA, 7SL, cytoplasmic 7, pseudogene RN7SL7P 7L23 Yes No Ensembl:ENSG00000266794, GenAtlas:RN7SLP4, GeneCard:RN7SL7P, HGNC:HGNC:10042, NCBI Gene:6033, RefSeq DNA:NG_002428, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595 No chr7 92600256 92600640 92970942 92971326 +PA34411 6034 HGNC:10043 ENSG00000243352 RNA, 7SL, cytoplasmic 8, pseudogene RN7SL8P 7L63 Yes No Ensembl:ENSG00000243352, GenAtlas:RN7SLP5, GeneCard:RN7SL8P, HGNC:HGNC:10043, NCBI Gene:6034, RefSeq DNA:NG_002429, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596 No chr7 104552320 104552592 104911873 104912145 +PA165378364 100008588 HGNC:37657 RNA, 18S ribosomal 5 RNA18S5 Yes No GeneCard:RN18S1, HGNC:HGNC:37657, NCBI Gene:100008588, RefSeq DNA:NT_167214, RefSeq RNA:NR_003286 No chr22 109078 110946 109078 110946 +PA165378365 100008589 HGNC:37659 RNA, 28S ribosomal 5 RNA28S5 Yes No GeneCard:RN28S1, HGNC:HGNC:37659, NCBI Gene:100008589, RefSeq DNA:NT_008470, RefSeq RNA:NR_003287 No chr22 113348 118417 113348 118417 +PA165378366 100008587 HGNC:37660 RNA, 5.8S ribosomal 5 RNA5-8S5 Yes No GeneCard:RN5-8S1, HGNC:HGNC:37660, NCBI Gene:100008587, RefSeq DNA:NT_167214, RefSeq RNA:NR_003285 No chr22 112025 112180 112025 112180 +PA162401401 100169751 HGNC:34362 ENSG00000199352 RNA, 5S ribosomal 1 RNA5S1 Yes No Ensembl:ENSG00000199352, GeneCard:RN5S1, HGNC:HGNC:34362, NCBI Gene:100169751, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023363 No chr1 228746013 228746133 228610266 228610386 +PA162401402 100169761 HGNC:34371 ENSG00000199910 RNA, 5S ribosomal 10 RNA5S10 Yes No Ensembl:ENSG00000199910, GeneCard:RN5S10, HGNC:HGNC:34371, NCBI Gene:100169761, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023372 No chr1 228766135 228766255 228630388 228630508 +PA162401403 100169762 HGNC:34372 ENSG00000199334 RNA, 5S ribosomal 11 RNA5S11 Yes No Ensembl:ENSG00000199334, GeneCard:RN5S11, HGNC:HGNC:34372, NCBI Gene:100169762, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023373 No chr1 228768376 228768496 228632629 228632749 +PA162401404 100169763 HGNC:34373 ENSG00000199270 RNA, 5S ribosomal 12 RNA5S12 Yes No Ensembl:ENSG00000199270, GeneCard:RN5S12, HGNC:HGNC:34373, NCBI Gene:100169763, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023374 No chr1 228770616 228770736 228634869 228634989 +PA162401405 100169764 HGNC:34374 ENSG00000202526 RNA, 5S ribosomal 13 RNA5S13 Yes No Ensembl:ENSG00000202526, GeneCard:RN5S13, HGNC:HGNC:34374, NCBI Gene:100169764, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023375 No chr1 228772841 228772961 228637094 228637214 +PA162401406 100169765 HGNC:34375 ENSG00000201355 RNA, 5S ribosomal 14 RNA5S14 Yes No Ensembl:ENSG00000201355, GeneCard:RN5S14, HGNC:HGNC:34375, NCBI Gene:100169765, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023376 No chr1 228775082 228775202 228639335 228639455 +PA162401407 100169766 HGNC:34376 ENSG00000201925 RNA, 5S ribosomal 15 RNA5S15 Yes No Ensembl:ENSG00000201925, GeneCard:RN5S15, HGNC:HGNC:34376, NCBI Gene:100169766, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023377 No chr1 228777313 228777433 228641566 228641686 +PA162401408 100169767 HGNC:34377 ENSG00000202257 RNA, 5S ribosomal 16 RNA5S16 Yes No Ensembl:ENSG00000202257, GeneCard:RN5S16, HGNC:HGNC:34377, NCBI Gene:100169767, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023378 No chr1 228779554 228779674 228643807 228643927 +PA162401409 100169768 HGNC:34378 ENSG00000200370 RNA, 5S ribosomal 17 RNA5S17 Yes No Ensembl:ENSG00000200370, GeneCard:RN5S17, HGNC:HGNC:34378, NCBI Gene:100169768, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023379 No chr1 228781785 228781905 228646038 228646158 +PA162401410 100169753 HGNC:34363 ENSG00000201588 RNA, 5S ribosomal 2 RNA5S2 Yes No Ensembl:ENSG00000201588, GeneCard:RN5S2, HGNC:HGNC:34363, NCBI Gene:100169753, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023364 No chr1 228748254 228748374 228612507 228612627 +PA162401411 100169754 HGNC:34364 ENSG00000199337 RNA, 5S ribosomal 3 RNA5S3 Yes No Ensembl:ENSG00000199337, GeneCard:RN5S3, HGNC:HGNC:34364, NCBI Gene:100169754, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023365 No chr1 228750495 228750615 228614748 228614868 +PA162401412 100169755 HGNC:34365 ENSG00000200381 RNA, 5S ribosomal 4 RNA5S4 Yes No Ensembl:ENSG00000200381, GeneCard:RN5S4, HGNC:HGNC:34365, NCBI Gene:100169755, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023366 No chr1 228752736 228752856 228616989 228617109 +PA162401413 100169756 HGNC:34366 ENSG00000199396 RNA, 5S ribosomal 5 RNA5S5 Yes No Ensembl:ENSG00000199396, GeneCard:RN5S5, HGNC:HGNC:34366, NCBI Gene:100169756, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023367 No chr1 228754977 228755097 228619230 228619350 +PA162401414 100169757 HGNC:34367 ENSG00000200624 RNA, 5S ribosomal 6 RNA5S6 Yes No Ensembl:ENSG00000200624, GeneCard:RN5S6, HGNC:HGNC:34367, NCBI Gene:100169757, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023368 No chr1 228757192 228757312 228621445 228621565 +PA162401415 100169758 HGNC:34368 ENSG00000202521 RNA, 5S ribosomal 7 RNA5S7 Yes No Ensembl:ENSG00000202521, GeneCard:RN5S7, HGNC:HGNC:34368, NCBI Gene:100169758, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023369 No chr1 228759412 228759532 228623665 228623785 +PA162401416 100169759 HGNC:34369 ENSG00000200343 RNA, 5S ribosomal 8 RNA5S8 Yes No Ensembl:ENSG00000200343, GeneCard:RN5S8, HGNC:HGNC:34369, NCBI Gene:100169759, RefSeq DNA:NT_079596, RefSeq DNA:NT_167186, RefSeq RNA:NR_023370 No chr1 228761654 228761774 228625907 228626027 +PA162401417 100169760 HGNC:34370 ENSG00000201321 RNA, 5S ribosomal 9 RNA5S9 Yes No Ensembl:ENSG00000201321, GeneCard:RN5S9, HGNC:HGNC:34370, NCBI Gene:100169760, RefSeq DNA:NT_167186, RefSeq RNA:NR_023371 No chr1 228763893 228764013 228628146 228628266 +PA34412 6035 HGNC:10044 ENSG00000129538 ribonuclease A family member 1, pancreatic RNASE1 ribonuclease, RNase A family, 1 (pancreatic) RAC1, RNS1 Yes No Comparative Toxicogenomics Database:6035, Ensembl:ENSG00000129538, GenAtlas:RNASE1, GeneCard:RNASE1, HGNC:HGNC:10044, HumanCyc Gene:HS05292, ModBase:P07998, NCBI Gene:6035, OMIM:180440, RefSeq DNA:NT_026437, RefSeq Protein:NP_002924, RefSeq Protein:NP_937875, RefSeq Protein:NP_937877, RefSeq Protein:NP_937878, RefSeq RNA:NM_002933, RefSeq RNA:NM_198232, RefSeq RNA:NM_198234, RefSeq RNA:NM_198235, UCSC Genome Browser:NM_002933, UniProtKB:P07998 No chr14 21269515 21271036 20801356 20802877 +PA134878150 338879 HGNC:19275 ENSG00000182545 ribonuclease A family member 10 (inactive) RNASE10 ribonuclease, RNase A family, 10 (non-active) RAH1, RNASE9 Yes No Comparative Toxicogenomics Database:338879, Ensembl:ENSG00000182545, GeneCard:RNASE10, HGNC:HGNC:19275, ModBase:Q5GAN6, NCBI Gene:338879, RefSeq DNA:NT_026437, RefSeq Protein:NP_001012993, RefSeq RNA:NM_001012975, UniProtKB:Q5GAN6 No chr14 20973696 20979314 20510472 20511122 +PA134929509 122651 HGNC:19269 ENSG00000173464 ribonuclease A family member 11 (inactive) RNASE11 ribonuclease, RNase A family, 11 (non-active) C14orf6, RAJ1 Yes No Ensembl:ENSG00000173464, GeneCard:RNASE11, HGNC:HGNC:19269, HumanCyc Gene:HS16216, ModBase:Q8TAA1, NCBI Gene:122651, RefSeq DNA:NT_026437, RefSeq Protein:NP_660293, RefSeq RNA:NM_145250, UniProtKB:Q5GAN5, UniProtKB:Q8TAA1 No chr14 21051051 21078037 20582892 20590258 +PA134948996 493901 HGNC:24211 ENSG00000258436 ribonuclease A family member 12 (inactive) RNASE12 ribonuclease, RNase A family, 12 (non-active) RAI1 Yes No Ensembl:ENSG00000258436, GeneCard:RNASE12, HGNC:HGNC:24211, ModBase:Q5GAN4, NCBI Gene:493901, RefSeq DNA:NT_026437, RefSeq Protein:NP_001019993, RefSeq RNA:NM_001024822, UniProtKB:Q5GAN4 No chr14 21058239 21059532 20590080 20590823 +PA134922548 440163 HGNC:25285 ENSG00000206150 ribonuclease A family member 13 (inactive) RNASE13 ribonuclease, RNase A family, 13 (non-active) RAL1 Yes No Ensembl:ENSG00000206150, GeneCard:RNASE13, HGNC:HGNC:25285, ModBase:Q5GAN3, NCBI Gene:440163, RefSeq DNA:NT_026437, RefSeq Protein:NP_001012264, RefSeq RNA:NM_001012264, UniProtKB:Q5GAN3 No chr14 21500979 21502944 21032820 21034785 +PA34413 6036 HGNC:10045 ENSG00000169385 ribonuclease A family member 2 RNASE2 """eosinophil-derived neurotoxin"", ""ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)""" EDN, RAF3, RNS2 Yes No Ensembl:ENSG00000169385, GenAtlas:RNASE2, GeneCard:RNASE2, HGNC:HGNC:10045, HumanCyc Gene:HS09938, ModBase:P10153, NCBI Gene:6036, OMIM:131410, RefSeq DNA:NT_026437, RefSeq Protein:NP_002925, RefSeq RNA:NM_002934, UCSC Genome Browser:NM_002934, UniProtKB:P10153 No chr14 21423630 21424594 20955471 20956435 +PA34414 6037 HGNC:10046 ENSG00000169397 ribonuclease A family member 3 RNASE3 """eosinophil cationic protein"", ""ribonuclease, RNase A family, 3""" ECP, RAF1, RNS3 Yes No Ensembl:ENSG00000169397, GenAtlas:RNASE3, GeneCard:RNASE3, HGNC:HGNC:10046, HumanCyc Gene:HS09939, ModBase:P12724, NCBI Gene:6037, OMIM:131398, RefSeq DNA:NT_026437, RefSeq Protein:NP_002926, RefSeq RNA:NM_002935, UCSC Genome Browser:NM_002935, UniProtKB:P12724 No chr14 21359562 21360507 20891403 20892348 +PA34415 6038 HGNC:10047 ENSG00000258818 ribonuclease A family member 4 RNASE4 ribonuclease, RNase A family, 4 RAB1 Yes No Comparative Toxicogenomics Database:6038, Ensembl:ENSG00000258818, GenAtlas:RNASE4, GeneCard:RNASE4, HGNC:HGNC:10047, HumanCyc Gene:HS11659, ModBase:P34096, NCBI Gene:6038, OMIM:601030, RefSeq DNA:NT_026437, RefSeq Protein:NP_002928, RefSeq Protein:NP_919412, RefSeq RNA:NM_002937, RefSeq RNA:NM_194431, UCSC Genome Browser:NM_002937, UniProtKB:P34096, UniProtKB:Q53XB4 No chr14 21152259 21168761 20684213 20700602 +PA34416 6039 HGNC:10048 ENSG00000169413 ribonuclease A family member 6 RNASE6 """RNase k6"", ""ribonuclease A family member k6"", ""ribonuclease, RNase A family, k6""" RAD1, RNS6, RNaseK6 Yes No Comparative Toxicogenomics Database:6039, Ensembl:ENSG00000169413, GenAtlas:RNASE6, GeneCard:RNASE6, HGNC:HGNC:10048, HumanCyc Gene:HS09943, ModBase:Q93091, NCBI Gene:6039, OMIM:601981, RefSeq DNA:NT_026437, RefSeq Protein:NP_005606, RefSeq RNA:NM_005615, UCSC Genome Browser:NM_005615, UniProtKB:Q6IB39, UniProtKB:Q93091 No chr14 21249210 21250626 20780956 20782467 +PA134939592 84659 HGNC:19278 ENSG00000165799 ribonuclease A family member 7 RNASE7 ribonuclease, RNase A family, 7 RAE1 Yes No Ensembl:ENSG00000165799, GeneCard:RNASE7, HGNC:HGNC:19278, HumanCyc Gene:HS09286, ModBase:Q9H1E1, NCBI Gene:84659, OMIM:612484, RefSeq DNA:NT_026437, RefSeq Protein:NP_115961, RefSeq RNA:NM_032572, UniProtKB:Q9H1E1 No chr14 21510385 21512393 21042226 21044233 +PA134930162 122665 HGNC:19277 ENSG00000173431 ribonuclease A family member 8 RNASE8 ribonuclease, RNase A family, 8 RAE2 Yes No Ensembl:ENSG00000173431, GeneCard:RNASE8, HGNC:HGNC:19277, HumanCyc Gene:HS10663, ModBase:Q8TDE3, NCBI Gene:122665, OMIM:612485, RefSeq DNA:NT_026437, RefSeq Protein:NP_612204, RefSeq RNA:NM_138331, UniProtKB:Q8TDE3 No chr14 21526052 21526516 21057822 21058455 +PA134887351 390443 HGNC:20673 ENSG00000188655 ribonuclease A family member 9 (inactive) RNASE9 ribonuclease, RNase A family, 9 (non-active) RAK1, h461 Yes No Ensembl:ENSG00000188655, GeneCard:RNASE9, HGNC:HGNC:20673, ModBase:P60153, NCBI Gene:390443, RefSeq DNA:NT_026437, RefSeq Protein:NP_001001673, RefSeq Protein:NP_001103826, RefSeq Protein:NP_001103827, RefSeq Protein:NP_001103828, RefSeq Protein:NP_001103829, RefSeq Protein:NP_001103830, RefSeq Protein:NP_001103831, RefSeq RNA:NM_001001673, RefSeq RNA:NM_001110356, RefSeq RNA:NM_001110357, RefSeq RNA:NM_001110358, RefSeq RNA:NM_001110359, RefSeq RNA:NM_001110360, RefSeq RNA:NM_001110361, UniProtKB:A2RQR8, UniProtKB:A8QJS1, UniProtKB:P60153 No chr14 21024252 21029125 20556093 20560931 +PA38543 246243 HGNC:18466 ENSG00000171865 ribonuclease H1 RNASEH1 RNase H1 Yes No Comparative Toxicogenomics Database:246243, Ensembl:ENSG00000171865, GenAtlas:RNASEH1, GeneCard:RNASEH1, HGNC:HGNC:18466, HumanCyc Gene:HS10407, ModBase:O60930, NCBI Gene:246243, OMIM:604123, RefSeq DNA:NT_022139, RefSeq Protein:NP_002927, RefSeq RNA:NM_002936, UCSC Genome Browser:NM_002936, UniProtKB:B3KUD4, UniProtKB:O60930 No chr2 3592675 3605957 3531813 3558371 +PA34417 284203 HGNC:10049 ENSG00000265790 ribonuclease H1 pseudogene 1 RNASEH1P1 RNH1 Yes No Ensembl:ENSG00000265790, GenAtlas:RNASEH1P1, GeneCard:RNASEH1P1, HGNC:HGNC:10049, NCBI Gene:284203, RefSeq DNA:NG_004111, RefSeq DNA:NT_010718, UCSC Genome Browser:NM_002936 No chr17 20805289 20806089 20901976 20902776 +PA134937366 390766 HGNC:18715 ENSG00000231458 ribonuclease H1 pseudogene 2 RNASEH1P2 Yes No Ensembl:ENSG00000231458, GeneCard:RNASEH1P2, HGNC:HGNC:18715, NCBI Gene:390766, RefSeq DNA:NG_004110, RefSeq DNA:NT_010718 No chr17 16586716 16587544 16683402 16684230 +PA134960346 199827 HGNC:18716 ribonuclease H1 pseudogene 3 RNASEH1P3 Yes No GeneCard:RNASEH1P3, HGNC:HGNC:18716, NCBI Gene:199827, RefSeq DNA:NG_001567, RefSeq DNA:NT_167186 No chr1 210477021 210478163 210303676 210304818 +PA38565 10535 HGNC:18518 ENSG00000104889 ribonuclease H2 subunit A RNASEH2A ribonuclease H2, subunit A AGS4, RNASEHI, RNHIA, RNHL Yes No Comparative Toxicogenomics Database:10535, Ensembl:ENSG00000104889, GenAtlas:RNASEH2A, GeneCard:RNASEH2A, HGNC:HGNC:18518, HumanCyc Gene:HS02645, ModBase:O75792, NCBI Gene:10535, OMIM:606034, OMIM:610333, RefSeq DNA:NG_012662, RefSeq DNA:NT_011295, RefSeq Protein:NP_006388, RefSeq RNA:NM_006397, UCSC Genome Browser:NM_006397, UniProtKB:O75792 No chr19 12912863 12924462 12802054 12813648 +PA162401418 79621 HGNC:25671 ENSG00000136104 ribonuclease H2 subunit B RNASEH2B ribonuclease H2, subunit B AGS2, DLEU8, FLJ11712 Yes No Ensembl:ENSG00000136104, GeneCard:RNASEH2B, HGNC:HGNC:25671, HumanCyc Gene:HS13612, NCBI Gene:79621, OMIM:610181, OMIM:610326, RefSeq DNA:NG_009055, RefSeq DNA:NT_024524, RefSeq Protein:NP_001135751, RefSeq Protein:NP_078846, RefSeq RNA:NM_001142279, RefSeq RNA:NM_024570, UniProtKB:Q5TBB1, UniProtKB:Q8N451 No chr13 51483814 51544596 50909678 50970462 +PA162401445 84153 HGNC:24116 ENSG00000172922 ribonuclease H2 subunit C RNASEH2C """Aicardi-Goutieres syndrome 3"", ""ribonuclease H2, subunit C""" AGS3, AYP1 Yes No Ensembl:ENSG00000172922, GeneCard:RNASEH2C, HGNC:HGNC:24116, HumanCyc Gene:HS16149, NCBI Gene:84153, OMIM:610329, OMIM:610330, RefSeq DNA:NG_008976, RefSeq DNA:NT_167190, RefSeq Protein:NP_115569, RefSeq RNA:NM_032193, UniProtKB:Q8TDP1 No chr11 65485144 65488409 65717673 65720938 +PA162401458 440400 HGNC:33911 ENSG00000219200 ribonuclease K RNASEK ribonuclease, RNase K MGC71993 Yes No Ensembl:ENSG00000219200, GeneCard:RNASEK, HGNC:HGNC:33911, NCBI Gene:440400, RefSeq DNA:NT_010718, RefSeq Protein:NP_001004333, RefSeq RNA:NM_001004333, RefSeq RNA:NR_037715, RefSeq RNA:NR_037716, UniProtKB:Q6P5S7 No chr17 6915736 6917852 7012417 7014533 +PA34418 6041 HGNC:10050 ENSG00000135828 ribonuclease L RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) HPC1, PRCA1, RNS4 Yes No Comparative Toxicogenomics Database:6041, Ensembl:ENSG00000135828, GenAtlas:RNASEL, GeneCard:RNASEL, HGNC:HGNC:10050, HumanCyc Gene:HS06069, ModBase:Q05823, NCBI Gene:6041, OMIM:180435, OMIM:601518, RefSeq DNA:NG_009024, RefSeq DNA:NT_004487, RefSeq Protein:NP_066956, RefSeq RNA:NM_021133, UCSC Genome Browser:NM_021133, UniProtKB:Q05823, UniProtKB:Q5W0L2 No chr1 182542769 182558420 182573634 182589285 +PA128394541 8635 HGNC:21686 ENSG00000026297 ribonuclease T2 RNASET2 FLJ10907, RNASE6PL, bA514O12.3 Yes No Comparative Toxicogenomics Database:8635, Ensembl:ENSG00000026297, GeneCard:RNASET2, HGNC:HGNC:21686, HumanCyc Gene:HS00449, ModBase:O00584, NCBI Gene:8635, OMIM:612944, OMIM:612951, RefSeq DNA:NG_016280, RefSeq DNA:NT_025741, RefSeq Protein:NP_003721, RefSeq RNA:NM_003730, UCSC Genome Browser:NM_003730, UniProtKB:O00584 No chr6 167342992 167370077 166929509 166956589 +PA134972408 27289 HGNC:18314 ENSG00000172602 Rho family GTPase 1 RND1 ras homolog gene family, member S ARHS, RHOS, Rho6 Yes Yes Comparative Toxicogenomics Database:27289, Ensembl:ENSG00000172602, GeneCard:RND1, HGNC:HGNC:18314, HumanCyc Gene:HS10541, ModBase:Q92730, NCBI Gene:27289, OMIM:609038, RefSeq DNA:NT_029419, RefSeq Protein:NP_055285, RefSeq RNA:NM_014470, UniProtKB:Q92730 No chr12 49250916 49259653 48857133 48865870 +PA134936989 8153 HGNC:18315 ENSG00000108830 Rho family GTPase 2 RND2 ARHN, Rho7, RhoN Yes No Comparative Toxicogenomics Database:8153, Ensembl:ENSG00000108830, GeneCard:RND2, HGNC:HGNC:18315, HumanCyc Gene:HS03166, ModBase:P52198, NCBI Gene:8153, OMIM:601555, RefSeq DNA:NT_010783, RefSeq Protein:NP_005431, RefSeq RNA:NM_005440, UniProtKB:P52198 No chr17 41177258 41184058 43025241 43032041 +PA24953 390 HGNC:671 ENSG00000115963 Rho family GTPase 3 RND3 ARHE, Rho8, RhoE Yes No Comparative Toxicogenomics Database:390, Ensembl:ENSG00000115963, GenAtlas:RND3, GeneCard:RND3, HGNC:HGNC:671, HumanCyc Gene:HS03960, ModBase:P61587, NCBI Gene:390, OMIM:602924, RefSeq DNA:NT_005403, RefSeq Protein:NP_005159, RefSeq RNA:NM_005168, UCSC Genome Browser:NM_005168, UniProtKB:P61587 No chr2 151324707 151344209 150468193 150487695 +PA34419 9921 HGNC:10055 ENSG00000022840 ring finger protein 10 RNF10 KIAA0262, RIE2 Yes No Comparative Toxicogenomics Database:9921, Ensembl:ENSG00000022840, GenAtlas:RNF10, GeneCard:RNF10, HGNC:HGNC:10055, HumanCyc Gene:HS12067, ModBase:Q8N5U6, NCBI Gene:9921, RefSeq DNA:NT_009775, RefSeq Protein:NP_055683, RefSeq RNA:NM_014868, UCSC Genome Browser:NM_014868, UniProtKB:Q8N5U6 No chr12 120972132 121015397 120534309 120577594 +PA37448 7844 HGNC:12859 ENSG00000239305 ring finger protein 103 RNF103 KF1, ZFP103, hkf-1 Yes No Comparative Toxicogenomics Database:7844, Ensembl:ENSG00000239305, GeneCard:RNF103, HGNC:HGNC:12859, ModBase:O00237, NCBI Gene:7844, OMIM:602507, RefSeq DNA:NT_022184, RefSeq Protein:NP_001185880, RefSeq Protein:NP_001185881, RefSeq Protein:NP_005658, RefSeq RNA:NM_001198951, RefSeq RNA:NM_001198952, RefSeq RNA:NM_005667, UCSC Genome Browser:NM_005667, UniProtKB:O00237 No chr2 86830516 86851000 86603393 86623877 +PA34420 26994 HGNC:10056 ENSG00000123091 ring finger protein 11 RNF11 CGI-123, MGC51169, Sid1669p Yes No Comparative Toxicogenomics Database:26994, Ensembl:ENSG00000123091, GenAtlas:RNF11, GeneCard:RNF11, HGNC:HGNC:10056, HumanCyc Gene:HS04624, ModBase:Q9Y3C5, NCBI Gene:26994, OMIM:612598, RefSeq DNA:NT_032977, RefSeq Protein:NP_055187, RefSeq RNA:NM_014372, UCSC Genome Browser:NM_014372, UniProtKB:Q9Y3C5 No chr1 51701945 51739119 51236273 51273447 +PA134868772 54778 HGNC:17384 ENSG00000157450 ring finger protein 111 RNF111 ARK, Arkadia, DKFZP761D081, FLJ38008 Yes No Ensembl:ENSG00000157450, GeneCard:RNF111, HGNC:HGNC:17384, HumanCyc Gene:HS14661, NCBI Gene:54778, OMIM:605840, RefSeq DNA:NT_010194, RefSeq Protein:NP_060080, RefSeq RNA:NM_017610, UniProtKB:Q6ZNA4 No chr15 59279865 59389618 58987588 59097419 +PA162401469 7732 HGNC:12968 ENSG00000128482 ring finger protein 112 RNF112 neurolastin BFP, ZNF179 Yes No Ensembl:ENSG00000128482, GeneCard:RNF112, HGNC:HGNC:12968, HumanCyc Gene:HS05188, ModBase:Q9ULX5, NCBI Gene:7732, OMIM:601237, RefSeq DNA:NT_010718, RefSeq Protein:NP_009079, RefSeq RNA:NM_007148 No chr17 19314491 19320589 19407169 19417276 +PA37556 7737 HGNC:12974 ENSG00000125352 ring finger protein 113A RNF113A Cwc24, RNF113, ZNF183 Yes No Ensembl:ENSG00000125352, GenAtlas:RNF113A, GeneCard:RNF113A, HGNC:HGNC:12974, HumanCyc Gene:HS04873, ModBase:O15541, NCBI Gene:7737, RefSeq DNA:NG_021227, RefSeq DNA:NT_011786, RefSeq Protein:NP_008909, RefSeq RNA:NM_006978, UCSC Genome Browser:NM_006978, UniProtKB:O15541 No chrX 119004495 119005791 119870532 119871828 +PA38217 140432 HGNC:17267 ENSG00000139797 ring finger protein 113B RNF113B RNF161, ZNF183L1 Yes No Ensembl:ENSG00000139797, GenAtlas:RNF113B, GeneCard:RNF113B, HGNC:HGNC:17267, HumanCyc Gene:HS06658, ModBase:Q8IZP6, NCBI Gene:140432, RefSeq DNA:NT_009952, RefSeq Protein:NP_849192, RefSeq RNA:NM_178861, UCSC Genome Browser:NM_178861, UniProtKB:Q8IZP6 No chr13 98828039 98829521 98175785 98177267 +PA162401502 55905 HGNC:13094 ENSG00000124226 ring finger protein 114 RNF114 PSORS12, ZNF313 Yes No Ensembl:ENSG00000124226, GeneCard:RNF114, HGNC:HGNC:13094, HumanCyc Gene:HS13118, ModBase:Q9Y508, NCBI Gene:55905, OMIM:612451, OMIM:612950, RefSeq DNA:NT_011362, RefSeq Protein:NP_061153, RefSeq RNA:NM_018683, UniProtKB:Q9Y508 No chr20 48552914 48570422 49936377 49953885 +PA162401519 27246 HGNC:18154 ENSG00000265491 ring finger protein 115 RNF115 CL469780, ZNF364 Yes No Ensembl:ENSG00000265491, GeneCard:RNF115, HGNC:HGNC:18154, HumanCyc Gene:HS13027, ModBase:Q9Y4L5, NCBI Gene:27246, RefSeq DNA:NT_167185, RefSeq Protein:NP_055270, RefSeq RNA:NM_014455, UniProtKB:Q9Y4L5 No chr1 145610990 145689005 145742189 145824123 +PA34421 170543 HGNC:16535 ENSG00000227563 ring finger protein 11 pseudogene 2 RNF11P2 bA280O9.1 Yes No Ensembl:ENSG00000227563, GenAtlas:RNF11B, GeneCard:RNF11P2, HGNC:HGNC:16535, NCBI Gene:170543, RefSeq DNA:NG_001052, RefSeq DNA:NT_011387 No chr20 14527831 14528269 14547185 14547623 +PA134985388 55298 HGNC:21070 ENSG00000137522 ring finger protein 121 RNF121 FLJ11099 Yes No Ensembl:ENSG00000137522, GeneCard:RNF121, HGNC:HGNC:21070, HumanCyc Gene:HS13686, ModBase:Q9H920, NCBI Gene:55298, RefSeq DNA:NT_167190, RefSeq Protein:NP_060790, RefSeq RNA:NM_018320, RefSeq RNA:NR_024147, RefSeq RNA:NR_024148, UniProtKB:Q9H920 No chr11 71639768 71708643 71928701 71997597 +PA134892945 79845 HGNC:21147 ENSG00000133874 ring finger protein 122 RNF122 FLJ12526 Yes No Ensembl:ENSG00000133874, GeneCard:RNF122, HGNC:HGNC:21147, HumanCyc Gene:HS13499, ModBase:Q9H9V4, NCBI Gene:79845, RefSeq DNA:NT_167187, RefSeq Protein:NP_079063, RefSeq RNA:NM_024787, UniProtKB:Q9H9V4 No chr8 33405272 33424646 33547754 33567128 +PA134916827 63891 HGNC:21148 ENSG00000164068 ring finger protein 123 RNF123 Kip1 ubiquitination-promoting complex subunit 1 FLJ12565, KPC1 Yes No Comparative Toxicogenomics Database:63891, Ensembl:ENSG00000164068, GeneCard:RNF123, HGNC:HGNC:21148, HumanCyc Gene:HS15144, ModBase:Q9H5L8, NCBI Gene:63891, RefSeq DNA:NG_011603, RefSeq DNA:NT_022517, RefSeq Protein:NP_071347, RefSeq RNA:NM_022064, UniProtKB:Q5XPI4 No chr3 49726950 49758962 49688753 49721529 +PA134950383 54941 HGNC:21150 ENSG00000101695 ring finger protein 125 RNF125 ring finger protein 125, E3 ubiquitin protein ligase FLJ20456 Yes No Comparative Toxicogenomics Database:54941, Ensembl:ENSG00000101695, GeneCard:RNF125, HGNC:HGNC:21150, HumanCyc Gene:HS12462, ModBase:Q96EQ8, NCBI Gene:54941, OMIM:610432, RefSeq DNA:NT_010966, RefSeq Protein:NP_060301, RefSeq RNA:NM_017831, UniProtKB:Q96EQ8 No chr18 29598445 29653154 32018203 32090751 +PA134876469 55658 HGNC:21151 ENSG00000070423 ring finger protein 126 RNF126 FLJ20552 Yes No Comparative Toxicogenomics Database:55658, Ensembl:ENSG00000070423, GeneCard:RNF126, HGNC:HGNC:21151, HumanCyc Gene:HS12209, ModBase:Q9BV68, NCBI Gene:55658, RefSeq DNA:NG_016713, RefSeq DNA:NT_011255, RefSeq Protein:NP_919442, RefSeq RNA:NM_194460, UniProtKB:Q9BV68 No chr19 647526 663313 647526 663313 +PA134977667 376412 HGNC:30340 ENSG00000261192 ring finger protein 126 pseudogene 1 RNF126P1 Yes No Ensembl:ENSG00000261192, GeneCard:RNF126P1, HGNC:HGNC:30340, NCBI Gene:376412, RefSeq DNA:NT_010783, RefSeq RNA:NR_002818 No chr17 55122839 55124156 57045478 57046795 +PA134868457 79589 HGNC:21153 ENSG00000133135 ring finger protein 128 RNF128 ring finger protein 128, E3 ubiquitin protein ligase FLJ23516, GRAIL Yes No Comparative Toxicogenomics Database:79589, Ensembl:ENSG00000133135, GeneCard:RNF128, HGNC:HGNC:21153, HumanCyc Gene:HS05744, ModBase:Q8TEB7, NCBI Gene:79589, OMIM:300439, RefSeq DNA:NG_012576, RefSeq DNA:NT_011651, RefSeq Protein:NP_078815, RefSeq Protein:NP_919445, RefSeq RNA:NM_024539, RefSeq RNA:NM_194463, UniProtKB:Q8TEB7 No chrX 105937068 106040246 106693838 106797016 +PA34422 11342 HGNC:10057 ENSG00000082996 ring finger protein 13 RNF13 RZF Yes No Comparative Toxicogenomics Database:11342, Ensembl:ENSG00000082996, GenAtlas:RNF13, GeneCard:RNF13, HGNC:HGNC:10057, HumanCyc Gene:HS01433, ModBase:O43567, NCBI Gene:11342, OMIM:609247, RefSeq DNA:NT_005612, RefSeq DNA:NT_079595, RefSeq Protein:NP_009213, RefSeq Protein:NP_899237, RefSeq RNA:NM_007282, RefSeq RNA:NM_183381, UCSC Genome Browser:NM_007282, UniProtKB:O43567 No chr3 149530475 149679926 149812688 149962139 +PA134871556 55819 HGNC:18280 ENSG00000113269 ring finger protein 130 RNF130 G1RZFP, GOLIATH, GP Yes No Comparative Toxicogenomics Database:55819, Ensembl:ENSG00000113269, GeneCard:RNF130, HGNC:HGNC:18280, HumanCyc Gene:HS12788, ModBase:Q86XS8, NCBI Gene:55819, RefSeq DNA:NT_023133, RefSeq Protein:NP_060904, RefSeq RNA:NM_018434, UniProtKB:Q86XS8 No chr5 179382067 179499118 179911651 180072130 +PA134991267 168433 HGNC:21154 ENSG00000188050 ring finger protein 133 RNF133 Yes No Ensembl:ENSG00000188050, GeneCard:RNF133, HGNC:HGNC:21154, ModBase:Q8WVZ7, NCBI Gene:168433, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_631914, RefSeq RNA:NM_139175, UniProtKB:Q8WVZ7 No chr7 122337766 122339208 122697712 122699154 +PA134978537 84282 HGNC:21158 ENSG00000181481 ring finger protein 135 RNF135 riplet MGC13061 Yes No Comparative Toxicogenomics Database:84282, Ensembl:ENSG00000181481, GeneCard:RNF135, HGNC:HGNC:21158, HumanCyc Gene:HS17683, ModBase:Q8IUD6, NCBI Gene:84282, OMIM:611358, RefSeq DNA:NG_011701, RefSeq DNA:NT_010799, RefSeq Protein:NP_001171921, RefSeq Protein:NP_115698, RefSeq Protein:NP_922921, RefSeq RNA:NM_001184992, RefSeq RNA:NM_032322, RefSeq RNA:NM_197939, UniProtKB:B2R7G9, UniProtKB:B6ZLM5, UniProtKB:Q8IUD6 No chr17 29296224 29326929 30968642 30999911 +PA134952071 51444 HGNC:17765 ENSG00000134758 ring finger protein 138 RNF138 """nemo-like kinase associated ring finger protein"", ""ring finger protein 138, E3 ubiquitin protein ligase""" NARF, STRIN Yes No Comparative Toxicogenomics Database:51444, Ensembl:ENSG00000134758, GeneCard:RNF138, HGNC:HGNC:17765, HumanCyc Gene:HS13543, ModBase:Q8WVD3, NCBI Gene:51444, RefSeq DNA:NT_010966, RefSeq Protein:NP_001178253, RefSeq Protein:NP_057355, RefSeq Protein:NP_937761, RefSeq RNA:NM_001191324, RefSeq RNA:NM_016271, RefSeq RNA:NM_198128, UniProtKB:Q8WVD3 No chr18 29671818 29711524 32091855 32131561 +PA134941845 379013 HGNC:30342 ENSG00000250853 ring finger protein 138, E3 ubiquitin protein ligase pseudogene 1 RNF138P1 Yes No Ensembl:ENSG00000250853, GeneCard:RNF138P1, HGNC:HGNC:30342, NCBI Gene:379013, RefSeq DNA:NT_006713, RefSeq RNA:NR_001575 No chr5 54824670 54830370 55528842 55534542 +PA134945850 11236 HGNC:17023 ENSG00000170881 ring finger protein 139 RNF139 translocation in renal carcinoma, chromosome 8 HRCA1, RCA1, TRC8 Yes No Comparative Toxicogenomics Database:11236, Ensembl:ENSG00000170881, GeneCard:RNF139, HGNC:HGNC:17023, HumanCyc Gene:HS10197, ModBase:Q8WU17, NCBI Gene:11236, OMIM:144700, OMIM:603046, RefSeq DNA:NG_012158, RefSeq DNA:NT_008046, RefSeq Protein:NP_009149, RefSeq RNA:NM_007218, UniProtKB:Q8WU17 No chr8 125487008 125500859 124474767 124488618 +PA34423 9604 HGNC:10058 ENSG00000013561 ring finger protein 14 RNF14 ARA54, HFB30, TRIAD2 Yes No Comparative Toxicogenomics Database:9604, Ensembl:ENSG00000013561, GenAtlas:RNF14, GeneCard:RNF14, HGNC:HGNC:10058, HumanCyc Gene:HS00349, ModBase:Q9UBS8, NCBI Gene:9604, OMIM:605675, RefSeq DNA:NT_029289, RefSeq Protein:NP_001188294, RefSeq Protein:NP_004281, RefSeq Protein:NP_899645, RefSeq Protein:NP_899646, RefSeq Protein:NP_899647, RefSeq Protein:NP_899648, RefSeq RNA:NM_001201365, RefSeq RNA:NM_004290, RefSeq RNA:NM_183398, RefSeq RNA:NM_183399, RefSeq RNA:NM_183400, RefSeq RNA:NM_183401, UCSC Genome Browser:NM_004290, UniProtKB:A8MTW5, UniProtKB:B3KN55, UniProtKB:Q9UBS8 No chr5 141346402 141369856 141949337 141993709 +PA134981805 50862 HGNC:21159 ENSG00000110315 ring finger protein 141 RNF141 ZFP26, ZNF230 Yes No Comparative Toxicogenomics Database:50862, Ensembl:ENSG00000110315, GeneCard:RNF141, HGNC:HGNC:21159, HumanCyc Gene:HS12720, ModBase:Q8WVD5, NCBI Gene:50862, RefSeq DNA:NT_009237, RefSeq Protein:NP_057506, RefSeq RNA:NM_016422, UniProtKB:Q8WVD5 No chr11 10533225 10562774 10511678 10541227 +PA162401542 9781 HGNC:20457 ENSG00000151692 ring finger protein 144A RNF144A KIAA0161, RNF144, UBCE7IP4, hUIP4 Yes No Ensembl:ENSG00000151692, GeneCard:RNF144A, HGNC:HGNC:20457, HumanCyc Gene:HS14382, ModBase:P50876, NCBI Gene:9781, RefSeq DNA:NT_005334, RefSeq Protein:NP_055561, RefSeq RNA:NM_014746, UniProtKB:P50876 No chr2 7057523 7209011 6917392 7076886 +PA162401565 255488 HGNC:21578 ENSG00000137393 ring finger protein 144B RNF144B IBRDC2, P53RFP, bA528A10.3 Yes No Ensembl:ENSG00000137393, GeneCard:RNF144B, HGNC:HGNC:21578, ModBase:Q7Z419, NCBI Gene:255488, RefSeq DNA:NT_007592, RefSeq Protein:NP_877434, RefSeq RNA:NM_182757, UniProtKB:Q7Z419 No chr6 18277602 18469105 18387329 18468874 +PA134876286 153830 HGNC:20853 ENSG00000145860 ring finger protein 145 RNF145 FLJ31951 Yes No Ensembl:ENSG00000145860, HGNC:HGNC:20853, NCBI Gene:153830, RefSeq DNA:NT_023133, RefSeq Protein:NP_001186309, RefSeq Protein:NP_001186310, RefSeq Protein:NP_001186311, RefSeq Protein:NP_001186312, RefSeq Protein:NP_653327, RefSeq RNA:NM_001199380, RefSeq RNA:NM_001199381, RefSeq RNA:NM_001199382, RefSeq RNA:NM_001199383, RefSeq RNA:NM_144726, UniProtKB:Q96MT1 No chr5 158584417 158637061 159157409 159210053 +PA134910489 81847 HGNC:21336 ENSG00000118518 ring finger protein 146 RNF146 DKFZp434O1427, dJ351K20.1, dactylidin Yes No Comparative Toxicogenomics Database:81847, Ensembl:ENSG00000118518, GeneCard:RNF146, HGNC:HGNC:21336, HumanCyc Gene:HS12919, ModBase:Q9NTX7, NCBI Gene:81847, OMIM:612137, RefSeq DNA:NT_025741, RefSeq Protein:NP_001229773, RefSeq Protein:NP_001229774, RefSeq Protein:NP_001229775, RefSeq Protein:NP_001229776, RefSeq Protein:NP_001229777, RefSeq Protein:NP_001229778, RefSeq Protein:NP_001229779, RefSeq Protein:NP_001229780, RefSeq Protein:NP_001229781, RefSeq Protein:NP_112225, RefSeq RNA:NM_001242844, RefSeq RNA:NM_001242845, RefSeq RNA:NM_001242846, RefSeq RNA:NM_001242847, RefSeq RNA:NM_001242848, RefSeq RNA:NM_001242849, RefSeq RNA:NM_001242850, RefSeq RNA:NM_001242851, RefSeq RNA:NM_001242852, RefSeq RNA:NM_030963, UniProtKB:Q9NTX7 No chr6 127587827 127609707 127266340 127289893 +PA134918676 378925 HGNC:22411 ENSG00000235631 ring finger protein 148 RNF148 MGC35222 Yes No Comparative Toxicogenomics Database:378925, Ensembl:ENSG00000235631, GeneCard:RNF148, HGNC:HGNC:22411, ModBase:Q8N7C7, NCBI Gene:378925, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_932351, RefSeq RNA:NM_198085, UniProtKB:A4D0X4, UniProtKB:Q8N7C7 No chr7 122341720 122343021 122701666 122702967 +PA134895641 284996 HGNC:23137 ENSG00000163162 ring finger protein 149 RNF149 FLJ90504 Yes No Comparative Toxicogenomics Database:284996, Ensembl:ENSG00000163162, GeneCard:RNF149, HGNC:HGNC:23137, ModBase:Q8NC42, NCBI Gene:284996, RefSeq DNA:NT_022171, RefSeq Protein:NP_775918, RefSeq RNA:NM_173647, UniProtKB:Q8NC42 No chr2 101887681 101925178 101271213 101308716 +PA134918555 57484 HGNC:23138 ENSG00000170153 ring finger protein 150 RNF150 KIAA1214 Yes No Ensembl:ENSG00000170153, GeneCard:RNF150, HGNC:HGNC:23138, ModBase:Q9ULK6, NCBI Gene:57484, RefSeq DNA:NT_016354, RefSeq Protein:NP_065775, RefSeq RNA:NM_020724, UniProtKB:Q9ULK6 No chr4 141786708 142054630 140859807 141212857 +PA134992556 146310 HGNC:23235 ENSG00000179580 ring finger protein 151 RNF151 Yes No Comparative Toxicogenomics Database:146310, Ensembl:ENSG00000179580, GeneCard:RNF151, HGNC:HGNC:23235, ModBase:Q2KHN1, NCBI Gene:146310, RefSeq DNA:NT_010393, RefSeq Protein:NP_777563, RefSeq RNA:NM_174903, UniProtKB:Q2KHN1 No chr16 2016843 2018976 1966639 1968975 +PA134984811 220441 HGNC:26811 ENSG00000176641 ring finger protein 152 RNF152 FLJ39176 Yes No Comparative Toxicogenomics Database:220441, Ensembl:ENSG00000176641, GeneCard:RNF152, HGNC:HGNC:26811, HumanCyc Gene:HS16700, ModBase:Q8N8N0, NCBI Gene:220441, RefSeq DNA:NT_025028, RefSeq Protein:NP_775828, RefSeq RNA:NM_173557, UniProtKB:B3KV99, UniProtKB:Q8N8N0 No chr18 59475300 59561634 61808067 61894420 +PA134974884 114804 HGNC:29402 ENSG00000141576 ring finger protein 157 RNF157 KIAA1917 Yes No Ensembl:ENSG00000141576, GeneCard:RNF157, HGNC:HGNC:29402, ModBase:Q96PX1, NCBI Gene:114804, RefSeq DNA:NT_010783, RefSeq Protein:NP_443148, RefSeq RNA:NM_052916, UniProtKB:Q96PX1 No chr17 74138534 74236448 76142453 76240368 +PA134915234 115992 HGNC:28856 ENSG00000158717 ring finger protein 166 RNF166 MGC14381, MGC2647 Yes No Ensembl:ENSG00000158717, GeneCard:RNF166, HGNC:HGNC:28856, ModBase:Q96A37, NCBI Gene:115992, RefSeq DNA:NT_010542, RefSeq Protein:NP_001165286, RefSeq Protein:NP_001165287, RefSeq Protein:NP_849163, RefSeq RNA:NM_001171815, RefSeq RNA:NM_001171816, RefSeq RNA:NM_178841, UniProtKB:Q96A37 No chr16 88762903 88772829 88696495 88706421 +PA134953711 26001 HGNC:24544 ENSG00000108523 ring finger protein 167 RNF167 DKFZP566H073 Yes No Comparative Toxicogenomics Database:26001, Ensembl:ENSG00000108523, GeneCard:RNF167, HGNC:HGNC:24544, HumanCyc Gene:HS03119, ModBase:Q9H6Y7, NCBI Gene:26001, OMIM:610431, RefSeq DNA:NT_010718, RefSeq Protein:NP_056343, RefSeq RNA:NM_015528, UniProtKB:Q9H6Y7 No chr17 4843328 4848517 4940008 4945223 +PA134945219 165918 HGNC:26661 ENSG00000163961 ring finger protein 168 RNF168 ring finger protein 168, E3 ubiquitin protein ligase FLJ35794 Yes No Ensembl:ENSG00000163961, GeneCard:RNF168, HGNC:HGNC:26661, HumanCyc Gene:HS15132, ModBase:Q8IYW5, NCBI Gene:165918, OMIM:611943, OMIM:612688, RefSeq DNA:NT_029928, RefSeq Protein:NP_689830, RefSeq RNA:NM_152617, UniProtKB:Q8IYW5 No chr3 196195654 196230639 196468783 196503768 +PA142671054 254225 HGNC:26961 ENSG00000166439 ring finger protein 169 RNF169 KIAA1991 Yes No Ensembl:ENSG00000166439, GeneCard:RNF169, HGNC:HGNC:26961, ModBase:Q8NCN4, NCBI Gene:254225, RefSeq DNA:NT_167190, RefSeq Protein:NP_001092108, RefSeq RNA:NM_001098638, UniProtKB:Q8NCN4 No chr11 74459913 74553458 74748856 74842413 +PA34424 56163 HGNC:10060 ENSG00000132972 ring finger protein 17 RNF17 spermatogenesis associated 23 FLJ11045, Mmip-2, SPATA23, TDRD4 Yes No Ensembl:ENSG00000132972, GenAtlas:RNF17, GeneCard:RNF17, HGNC:HGNC:10060, HumanCyc Gene:HS13457, ModBase:Q9BXT8, NCBI Gene:56163, OMIM:605793, RefSeq DNA:NT_024524, RefSeq Protein:NP_001171922, RefSeq Protein:NP_112567, RefSeq RNA:NM_001184993, RefSeq RNA:NM_031277, UCSC Genome Browser:NM_031277, UniProtKB:Q9BXT8 No chr13 25338301 25454059 24747641 24888816 +PA134922560 81790 HGNC:25358 ENSG00000120925 ring finger protein 170 RNF170 ADSA, DKFZP564A022, SNAX1 Yes No Ensembl:ENSG00000120925, GeneCard:RNF170, HGNC:HGNC:25358, HumanCyc Gene:HS13007, ModBase:Q96K19, NCBI Gene:81790, RefSeq DNA:NT_167187, RefSeq Protein:NP_001153695, RefSeq Protein:NP_001153696, RefSeq Protein:NP_001153697, RefSeq Protein:NP_112216, RefSeq RNA:NM_001160223, RefSeq RNA:NM_001160224, RefSeq RNA:NM_001160225, RefSeq RNA:NM_030954, RefSeq RNA:NR_027668, RefSeq RNA:NR_027669, UniProtKB:Q96K19 No chr8 42704780 42751866 42849637 42897288 +PA134909663 285533 HGNC:27735 ENSG00000145428 ring finger protein 175 RNF175 FLJ34190 Yes No Ensembl:ENSG00000145428, GeneCard:RNF175, HGNC:HGNC:27735, HumanCyc Gene:HS14092, ModBase:Q8N4F7, NCBI Gene:285533, RefSeq DNA:NG_016386, RefSeq DNA:NT_016354, RefSeq Protein:NP_775933, RefSeq RNA:NM_173662, UniProtKB:Q8N4F7 No chr4 154631312 154681387 153710160 153760983 +PA134980027 285671 HGNC:27752 ENSG00000164197 ring finger protein 180 RNF180 Yes No Ensembl:ENSG00000164197, GeneCard:RNF180, HGNC:HGNC:27752, NCBI Gene:285671, RefSeq DNA:NT_006713, RefSeq Protein:NP_001107033, RefSeq Protein:NP_848627, RefSeq RNA:NM_001113561, RefSeq RNA:NM_178532, UniProtKB:Q86T96 No chr5 63461671 63668704 64165311 64372879 +PA162401586 51255 HGNC:28037 ENSG00000168894 ring finger protein 181 RNF181 HSPC238 Yes No Ensembl:ENSG00000168894, GeneCard:RNF181, HGNC:HGNC:28037, HumanCyc Gene:HS15723, ModBase:Q9P0P0, NCBI Gene:51255, OMIM:612490, RefSeq DNA:NT_022184, RefSeq Protein:NP_057578, RefSeq RNA:NM_016494, UniProtKB:Q9P0P0 No chr2 85822391 85824831 85595268 85597708 +PA134975171 221687 HGNC:28522 ENSG00000180537 ring finger protein 182 RNF182 MGC33993 Yes No Ensembl:ENSG00000180537, GeneCard:RNF182, HGNC:HGNC:28522, HumanCyc Gene:HS17522, ModBase:Q8N6D2, NCBI Gene:221687, RefSeq DNA:NT_007592, RefSeq Protein:NP_001158504, RefSeq Protein:NP_001158505, RefSeq Protein:NP_001158506, RefSeq Protein:NP_689950, RefSeq RNA:NM_001165032, RefSeq RNA:NM_001165033, RefSeq RNA:NM_001165034, RefSeq RNA:NM_152737, UniProtKB:Q8N6D2 No chr6 13924677 13980240 13924446 13980009 +PA142671055 138065 HGNC:28721 ENSG00000165188 ring finger protein 183 RNF183 MGC4734 Yes No Ensembl:ENSG00000165188, GeneCard:RNF183, HGNC:HGNC:28721, HumanCyc Gene:HS15300, ModBase:Q96D59, NCBI Gene:138065, RefSeq DNA:NT_008470, RefSeq Protein:NP_659488, RefSeq RNA:NM_145051, UniProtKB:Q96D59 No chr9 116059373 116065554 113297093 113303274 +PA142671056 91445 HGNC:26783 ENSG00000138942 ring finger protein 185 RNF185 hypothetical protein FLJ38628 FLJ38628 Yes No Comparative Toxicogenomics Database:91445, Ensembl:ENSG00000138942, GeneCard:RNF185, HGNC:HGNC:26783, HumanCyc Gene:HS13751, ModBase:Q96GF1, NCBI Gene:91445, RefSeq DNA:NT_011520, RefSeq Protein:NP_001129296, RefSeq Protein:NP_001129297, RefSeq Protein:NP_689480, RefSeq RNA:NM_001135824, RefSeq RNA:NM_001135825, RefSeq RNA:NM_152267, RefSeq RNA:NR_024209, RefSeq RNA:NR_024210, RefSeq RNA:NR_024211, RefSeq RNA:NR_024212, UniProtKB:A8K5C1, UniProtKB:A9X3T8, UniProtKB:Q96GF1 No chr22 31556138 31603005 31160152 31207019 +PA142671057 54546 HGNC:25978 ENSG00000178828 ring finger protein 186 RNF186 hypothetical protein FLJ20225 FLJ20225 Yes No Comparative Toxicogenomics Database:54546, Ensembl:ENSG00000178828, GeneCard:RNF186, HGNC:HGNC:25978, HumanCyc Gene:HS11320, ModBase:Q9NXI6, NCBI Gene:54546, RefSeq DNA:NT_004610, RefSeq Protein:NP_061935, RefSeq RNA:NM_019062, UniProtKB:Q9NXI6 No chr1 20140522 20141771 19814029 19815278 +PA142671058 149603 HGNC:27146 ENSG00000168159 ring finger protein 187 RNF187 ring domain AP-1 co-activator 1 RACO-1, RACO1 Yes No Comparative Toxicogenomics Database:149603, Ensembl:ENSG00000168159, GeneCard:RNF187, HGNC:HGNC:27146, NCBI Gene:149603, RefSeq DNA:NT_167186, RefSeq Protein:NP_001010858, RefSeq RNA:NM_001010858, UniProtKB:Q5TA31 No chr1 228674277 228697598 228487367 228496188 +PA162401601 25897 HGNC:13432 ENSG00000034677 ring finger protein 19A, RBR E3 ubiquitin protein ligase RNF19A ring finger protein 19A, E3 ubiquitin protein ligase DKFZp566B1346, RNF19, dorfin Yes No Ensembl:ENSG00000034677, GeneCard:RNF19A, HGNC:HGNC:13432, HumanCyc Gene:HS00502, ModBase:Q9NV58, NCBI Gene:25897, OMIM:607119, RefSeq DNA:NT_008046, RefSeq Protein:NP_056250, RefSeq Protein:NP_904355, RefSeq RNA:NM_015435, RefSeq RNA:NM_183419, UniProtKB:Q9NV58 No chr8 101269285 101348446 100257059 100336218 +PA162401626 127544 HGNC:26886 ENSG00000116514 ring finger protein 19B RNF19B natural killer lytic-associated molecule FLJ90005, IBRDC3, NKLAM Yes No Ensembl:ENSG00000116514, GeneCard:RNF19B, HGNC:HGNC:26886, HumanCyc Gene:HS12870, NCBI Gene:127544, OMIM:610872, RefSeq DNA:NT_032977, RefSeq Protein:NP_001120833, RefSeq Protein:NP_699172, RefSeq RNA:NM_001127361, RefSeq RNA:NM_153341, UniProtKB:Q6ZMZ0 No chr1 33402050 33430467 32932498 32965266 +PA34426 6045 HGNC:10061 ENSG00000121481 ring finger protein 2 RNF2 BAP-1, BAP1, DING, HIPI3, RING1B, RING2 Yes No Comparative Toxicogenomics Database:6045, Ensembl:ENSG00000121481, GenAtlas:RNF2, GeneCard:RNF2, HGNC:HGNC:10061, HumanCyc Gene:HS13021, ModBase:Q99496, NCBI Gene:6045, OMIM:608985, RefSeq DNA:NT_004487, RefSeq Protein:NP_009143, RefSeq RNA:NM_007212, UCSC Genome Browser:NM_007212, UniProtKB:Q99496 No chr1 185014482 185071740 185045419 185102608 +PA34427 56254 HGNC:10062 ENSG00000155827 ring finger protein 20 RNF20 """BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"", ""ring finger protein 20, E3 ubiquitin protein ligase""" BRE1, BRE1A, FLJ11189, FLJ20382, KAIA2779, hBRE1 Yes No Comparative Toxicogenomics Database:56254, Ensembl:ENSG00000155827, GenAtlas:RNF20, GeneCard:RNF20, HGNC:HGNC:10062, HumanCyc Gene:HS14587, ModBase:Q9NUR4, NCBI Gene:56254, OMIM:607699, RefSeq DNA:NT_008470, RefSeq Protein:NP_062538, RefSeq RNA:NM_019592, UCSC Genome Browser:NM_019592, UniProtKB:Q5VTR2 No chr9 104296131 104325626 101533849 101563344 +PA145148144 388591 HGNC:32947 ENSG00000158286 ring finger protein 207 RNF207 OTTHUMG00000001089 C1orf188, FLJ32096, FLJ46380 Yes No Ensembl:ENSG00000158286, GeneCard:RNF207, HGNC:HGNC:32947, ModBase:Q6ZRF8, NCBI Gene:388591, RefSeq DNA:NT_021937, RefSeq Protein:NP_997279, RefSeq RNA:NM_207396, UniProtKB:Q6ZRF8 No chr1 6266189 6281359 6205475 6221299 +PA162401649 727800 HGNC:25420 ENSG00000212864 ring finger protein 208 RNF208 DKFZP761H1710 Yes No Ensembl:ENSG00000212864, GeneCard:RNF208, HGNC:HGNC:25420, ModBase:Q9H0X6, NCBI Gene:727800, RefSeq DNA:NT_024000, RefSeq Protein:NP_112587, RefSeq RNA:NM_031297, UniProtKB:Q9H0X6 No chr9 140114699 140115775 137220247 137221323 +PA162401656 285498 HGNC:27729 ENSG00000178222 ring finger protein 212 RNF212 FLJ38841, LOC285498 Yes No Ensembl:ENSG00000178222, GeneCard:RNF212, HGNC:HGNC:27729, ModBase:Q495C1, NCBI Gene:285498, OMIM:612041, OMIM:612042, RefSeq DNA:NT_037622, RefSeq Protein:NP_001124506, RefSeq Protein:NP_001180247, RefSeq Protein:NP_919420, RefSeq RNA:NM_001131034, RefSeq RNA:NM_001193318, RefSeq RNA:NM_194439, UniProtKB:Q495C1 No chr4 1050039 1107352 1056248 1113794 +PA134863571 100507650 HGNC:20438 ENSG00000215277 ring finger protein 212B RNF212B chromosome 14 open reading frame 164 C14orf164 Yes No Ensembl:ENSG00000215277, GeneCard:C14orf164, HGNC:HGNC:20438, NCBI Gene:100507650 No chr14 23707127 23743494 23185284 23274285 +PA162401681 57674 HGNC:14539 ENSG00000173821 ring finger protein 213 RNF213 ALK lymphoma oligomerization partner on chromosome 17, mysterin ALO17, C17orf27, KIAA1554, KIAA1618, MYMY2, NET57 Yes No Ensembl:ENSG00000173821, GeneCard:RNF213, HGNC:HGNC:14539, ModBase:Q9HCL8, NCBI Gene:57674, RefSeq DNA:NT_010783, RefSeq Protein:NP_065965, RefSeq Protein:NP_066005, RefSeq Protein:XP_002343629, RefSeq RNA:NM_020914, RefSeq RNA:NM_020954, RefSeq RNA:XM_002343588, UniProtKB:Q9HCF4 No chr17 78234643 78372586 80260820 80398786 +PA162401772 257160 HGNC:25335 ENSG00000167257 ring finger protein 214 RNF214 DKFZp547C195 Yes No Ensembl:ENSG00000167257, GeneCard:RNF214, HGNC:HGNC:25335, ModBase:Q8ND24, NCBI Gene:257160, RefSeq DNA:NT_033899, RefSeq Protein:NP_001070707, RefSeq Protein:NP_997226, RefSeq RNA:NM_001077239, RefSeq RNA:NM_207343, UniProtKB:B2RUW0, UniProtKB:Q8ND24 No chr11 117103341 117156404 117232625 117285688 +PA162401807 200312 HGNC:33434 ENSG00000099999 ring finger protein 215 RNF215 Yes No Ensembl:ENSG00000099999, GeneCard:RNF215, HGNC:HGNC:33434, ModBase:Q9Y6U7, NCBI Gene:200312, RefSeq DNA:NT_011520, RefSeq Protein:NP_001017981, RefSeq RNA:NM_001017981, UniProtKB:Q9Y6U7 No chr22 30774801 30783302 30378812 30387313 +PA162401829 54476 HGNC:21698 ENSG00000011275 ring finger protein 216 RNF216 TRIAD3, UBCE7IP1, ZIN Yes No Ensembl:ENSG00000011275, GeneCard:RNF216, HGNC:HGNC:21698, HumanCyc Gene:HS00309, ModBase:Q9NWF9, NCBI Gene:54476, OMIM:609948, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_996994, RefSeq Protein:NP_996999, RefSeq RNA:NM_207111, RefSeq RNA:NM_207116, UniProtKB:Q9NWF9 No chr7 5659672 5821361 5620041 5781730 +PA162401868 154214 HGNC:21487 ENSG00000146373 ring finger protein 217 RNF217 C6orf172, IBRDC1, MGC26996, dJ84N20.1 Yes No Ensembl:ENSG00000146373, GeneCard:RNF217, HGNC:HGNC:21487, HumanCyc Gene:HS14147, NCBI Gene:154214, RefSeq DNA:NT_025741, RefSeq Protein:NP_689766, RefSeq RNA:NM_152553, UniProtKB:Q8TC41 No chr6 125283680 125413779 124962407 125092634 +PA162401886 55182 HGNC:25552 ENSG00000187147 ring finger protein 220 RNF220 C1orf164, FLJ10597 Yes No Ensembl:ENSG00000187147, GeneCard:RNF220, HGNC:HGNC:25552, HumanCyc Gene:HS13197, ModBase:Q5VTB9, NCBI Gene:55182, RefSeq DNA:NT_032977, RefSeq Protein:NP_060620, RefSeq RNA:NM_018150, UniProtKB:Q5VTB9 No chr1 44870837 45117396 44404846 44651724 +PA164725453 643904 HGNC:34517 ENSG00000189051 ring finger protein 222 RNF222 Yes No Ensembl:ENSG00000189051, GeneCard:RNF222, HGNC:HGNC:34517, ModBase:A6NCQ9, NCBI Gene:643904, RefSeq DNA:NT_010718, RefSeq Protein:NP_001140156, RefSeq Protein:XP_002343520, RefSeq Protein:XP_002345023, RefSeq Protein:XP_002347749, RefSeq RNA:NM_001146684, RefSeq RNA:XM_002343479, RefSeq RNA:XM_002344982, RefSeq RNA:XM_002347708, UniProtKB:A6NCQ9 No chr17 8294022 8301144 8390704 8397835 +PA166049043 401934 HGNC:40020 ENSG00000237330 ring finger protein 223 RNF223 Yes No Ensembl:ENSG00000237330, HGNC:HGNC:40020, NCBI Gene:401934 No chr1 1007126 1009687 1065635 1074307 +PA166049078 643596 HGNC:41912 ENSG00000233198 ring finger protein 224 RNF224 Yes No Ensembl:ENSG00000233198, HGNC:HGNC:41912, NCBI Gene:643596 No chr9 140122018 140124090 137227566 137229640 +PA166123731 646862 HGNC:51249 ENSG00000269855 ring finger protein 225 RNF225 Yes No Ensembl:ENSG00000269855, HGNC:HGNC:51249, NCBI Gene:646862 No +PA166181617 284023 HGNC:27571 ENSG00000179859 ring finger protein 227 RNF227 LINC02581 Yes No Ensembl:ENSG00000179859, HGNC:HGNC:27571, NCBI Gene:284023 No 0 0 0 0 +PA166352085 122319436 HGNC:55809 ring finger protein 228 RNF228 Yes No HGNC:HGNC:55809, NCBI Gene:122319436 No 0 0 0 0 +PA34428 11237 HGNC:13779 ENSG00000101236 ring finger protein 24 RNF24 G1L Yes No Comparative Toxicogenomics Database:11237, Ensembl:ENSG00000101236, GenAtlas:RNF24, GeneCard:RNF24, HGNC:HGNC:13779, HumanCyc Gene:HS12447, ModBase:Q9Y225, NCBI Gene:11237, OMIM:612489, RefSeq DNA:NT_011387, RefSeq Protein:NP_001127809, RefSeq Protein:NP_001127810, RefSeq Protein:NP_009150, RefSeq RNA:NM_001134337, RefSeq RNA:NM_001134338, RefSeq RNA:NM_007219, UCSC Genome Browser:NM_007219, UniProtKB:Q9Y225 No chr20 3912068 3996216 3927309 4015591 +PA34429 64320 HGNC:14662 ENSG00000163481 ring finger protein 25 RNF25 AO7, FLJ13906 Yes No Comparative Toxicogenomics Database:64320, Ensembl:ENSG00000163481, GenAtlas:RNF25, GeneCard:RNF25, HGNC:HGNC:14662, HumanCyc Gene:HS15068, ModBase:Q96BH1, NCBI Gene:64320, RefSeq DNA:NT_005403, RefSeq Protein:NP_071898, RefSeq RNA:NM_022453, UCSC Genome Browser:NM_022453, UniProtKB:Q96BH1 No chr2 219528587 219536781 218663864 218672058 +PA34430 79102 HGNC:14646 ENSG00000173456 ring finger protein 26 RNF26 ring finger protein with leucine zipper MGC2642 Yes No Ensembl:ENSG00000173456, GenAtlas:RNF26, GeneCard:RNF26, HGNC:HGNC:14646, HumanCyc Gene:HS10668, ModBase:Q9BY78, NCBI Gene:79102, OMIM:606130, RefSeq DNA:NT_033899, RefSeq Protein:NP_114404, RefSeq RNA:NM_032015, UCSC Genome Browser:NM_032015, UniProtKB:Q9BY78 No chr11 119205210 119208024 119334500 119337314 +PA134906471 55072 HGNC:16031 ENSG00000092098 ring finger protein 31 RNF31 HOIL-1-interacting protein FLJ10111, FLJ23501, HOIP, Paul, ZIBRA Yes No Ensembl:ENSG00000092098, GeneCard:RNF31, HGNC:HGNC:16031, HumanCyc Gene:HS12344, ModBase:Q96EP0, NCBI Gene:55072, OMIM:612487, RefSeq DNA:NT_026437, RefSeq Protein:NP_060469, RefSeq RNA:NM_017999, UniProtKB:A0A962, UniProtKB:Q96EP0 No chr14 24616101 24629870 24146875 24160661 +PA34435 140545 HGNC:17118 ENSG00000105982 ring finger protein 32 RNF32 FKSG33, HSD15, LMBR2 Yes No Comparative Toxicogenomics Database:140545, Ensembl:ENSG00000105982, GenAtlas:RNF32, GeneCard:RNF32, HGNC:HGNC:17118, HumanCyc Gene:HS12618, ModBase:Q9H0A6, NCBI Gene:140545, OMIM:610241, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_001171925, RefSeq Protein:NP_001171926, RefSeq Protein:NP_112198, RefSeq RNA:NM_001184996, RefSeq RNA:NM_001184997, RefSeq RNA:NM_030936, UCSC Genome Browser:NM_030936, UniProtKB:Q9H0A6 No chr7 156432971 156470377 156640286 156678333 +PA34436 80196 HGNC:17297 ENSG00000170633 ring finger protein 34 RNF34 ring finger protein 34, E3 ubiquitin protein ligase FLJ21786, RIF, RIFF Yes No Comparative Toxicogenomics Database:80196, Ensembl:ENSG00000170633, GenAtlas:RNF34, GeneCard:RNF34, HGNC:HGNC:17297, HumanCyc Gene:HS10160, ModBase:Q969K3, NCBI Gene:80196, OMIM:608299, RefSeq DNA:NT_009775, RefSeq Protein:NP_079402, RefSeq Protein:NP_919247, RefSeq RNA:NM_025126, RefSeq RNA:NM_194271, UCSC Genome Browser:NM_025126, UniProtKB:Q969K3 No chr12 121837886 121862155 121400083 121424353 +PA34438 152006 HGNC:18052 ENSG00000137075 ring finger protein 38 RNF38 Yes No Ensembl:ENSG00000137075, GenAtlas:RNF38, GeneCard:RNF38, HGNC:HGNC:18052, HumanCyc Gene:HS13659, ModBase:Q9H0F5, NCBI Gene:152006, OMIM:612488, RefSeq DNA:NT_008413, RefSeq Protein:NP_073618, RefSeq Protein:NP_919309, RefSeq Protein:NP_919310, RefSeq Protein:NP_919311, RefSeq Protein:NP_919313, RefSeq RNA:NM_022781, RefSeq RNA:NM_194328, RefSeq RNA:NM_194329, RefSeq RNA:NM_194330, RefSeq RNA:NM_194332, UCSC Genome Browser:NM_022781, UniProtKB:Q9H0F5 No chr9 36336395 36487568 36336398 36487384 +PA134949953 80352 HGNC:18064 ENSG00000204618, ENSG00000227171, ENSG00000230332, ENSG00000235022, ENSG00000236967 ring finger protein 39 RNF39 FAP216, HZFw1, LIRF Yes No Comparative Toxicogenomics Database:80352, Ensembl:ENSG00000204618, Ensembl:ENSG00000227171, Ensembl:ENSG00000230332, Ensembl:ENSG00000235022, Ensembl:ENSG00000236967, GeneCard:RNF39, HGNC:HGNC:18064, HumanCyc Gene:HS06279, ModBase:Q5SS29, NCBI Gene:80352, OMIM:607524, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_079512, RefSeq Protein:NP_739575, RefSeq RNA:NM_025236, RefSeq RNA:NM_170769, UniProtKB:Q96QB5, UniProtKB:Q9H2S5 No chr6 30038043 30043628 30070266 30080625 +PA34439 6047 HGNC:10067 ENSG00000063978 ring finger protein 4 RNF4 RES4-26, SLX5, SNURF Yes No Comparative Toxicogenomics Database:6047, Ensembl:ENSG00000063978, GenAtlas:RNF4, GeneCard:RNF4, HGNC:HGNC:10067, HumanCyc Gene:HS00789, ModBase:P78317, NCBI Gene:6047, OMIM:602850, RefSeq DNA:NT_006051, RefSeq Protein:NP_001171938, RefSeq Protein:NP_001171939, RefSeq Protein:NP_002929, RefSeq RNA:NM_001185009, RefSeq RNA:NM_001185010, RefSeq RNA:NM_002938, UCSC Genome Browser:NM_002938, UniProtKB:D6RF58, UniProtKB:P78317 No chr4 2470795 2517586 2469068 2515859 +PA34440 9810 HGNC:16867 ENSG00000103549 ring finger protein 40 RNF40 """BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"", ""ring finger protein 40, E3 ubiquitin protein ligase""" BRE1B, KIAA0661, RBP95, STARING Yes No Comparative Toxicogenomics Database:9810, Ensembl:ENSG00000103549, GenAtlas:RNF40, GeneCard:RNF40, HGNC:HGNC:16867, HumanCyc Gene:HS12528, ModBase:O75150, NCBI Gene:9810, OMIM:607700, RefSeq DNA:NT_010393, RefSeq Protein:NP_001193962, RefSeq Protein:NP_001193963, RefSeq Protein:NP_055586, RefSeq RNA:NM_001207033, RefSeq RNA:NM_001207034, RefSeq RNA:NM_014771, UCSC Genome Browser:NM_014771, UniProtKB:O75150 No chr16 30772933 30787628 30761612 30800231 +PA134875033 10193 HGNC:18401 ENSG00000181852 ring finger protein 41 RNF41 """ring finger protein 41"", ""ring finger protein 41, E3 ubiquitin protein ligase""" NRDP1, SBBI03 Yes No Comparative Toxicogenomics Database:10193, Ensembl:ENSG00000181852, GeneCard:RNF41, HGNC:HGNC:18401, HumanCyc Gene:HS17741, ModBase:Q9H4P4, NCBI Gene:10193, RefSeq DNA:NT_029419, RefSeq Protein:NP_001229755, RefSeq Protein:NP_005776, RefSeq Protein:NP_919339, RefSeq Protein:NP_919340, RefSeq RNA:NM_001242826, RefSeq RNA:NM_005785, RefSeq RNA:NM_194358, RefSeq RNA:NM_194359, RefSeq RNA:NR_040053, UniProtKB:A6NFW0, UniProtKB:Q9H4P4 No chr12 56596288 56615753 56202504 56221982 +PA34441 54894 HGNC:18505 ENSG00000108375 ring finger protein 43 RNF43 DKFZp781H0392, FLJ20315, RNF124, URCC Yes No Comparative Toxicogenomics Database:54894, Ensembl:ENSG00000108375, GenAtlas:RNF43, GeneCard:RNF43, HGNC:HGNC:18505, HumanCyc Gene:HS12671, ModBase:Q68DV7, NCBI Gene:54894, OMIM:612482, RefSeq DNA:NT_010783, RefSeq Protein:NP_060233, RefSeq RNA:NM_017763, UniProtKB:Q68DV7 No chr17 56431037 56494931 58352500 58418895 +PA38819 22838 HGNC:19180 ENSG00000146083 ring finger protein 44 RNF44 KIAA1100 Yes No Comparative Toxicogenomics Database:22838, Ensembl:ENSG00000146083, GenAtlas:RNF44, GeneCard:RNF44, HGNC:HGNC:19180, HumanCyc Gene:HS14131, ModBase:Q7L0R7, NCBI Gene:22838, RefSeq DNA:NT_023133, RefSeq Protein:NP_055716, RefSeq RNA:NM_014901, UCSC Genome Browser:NM_014901, UniProtKB:Q7L0R7 No chr5 175953700 175965026 176526699 176543456 +PA34442 6048 HGNC:10068 ENSG00000183574, ENSG00000204308, ENSG00000223767, ENSG00000225452, ENSG00000227277, ENSG00000228405, ENSG00000228907 ring finger protein 5 RNF5 ring finger protein 5, E3 ubiquitin protein ligase G16, NG2, RING5, RMA1 Yes No Comparative Toxicogenomics Database:6048, Ensembl:ENSG00000183574, Ensembl:ENSG00000204308, Ensembl:ENSG00000223767, Ensembl:ENSG00000225452, Ensembl:ENSG00000227277, Ensembl:ENSG00000228405, Ensembl:ENSG00000228907, GenAtlas:RNF5, GeneCard:RNF5, HGNC:HGNC:10068, HumanCyc Gene:HS01867, ModBase:Q99942, NCBI Gene:6048, OMIM:602677, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_008844, RefSeq RNA:NM_006913, UCSC Genome Browser:NM_006913, UniProtKB:Q99942 No chr6 32146162 32148570 32178385 32180793 +PA142671061 286140 HGNC:31053 ENSG00000253570 ring finger protein 5, E3 ubiquitin protein ligase pseudogene 1 RNF5P1 Yes No Ensembl:ENSG00000253570, GeneCard:RNF5P1, HGNC:HGNC:31053, NCBI Gene:286140, RefSeq DNA:NT_167187, RefSeq RNA:NR_003129 No chr8 38457691 38458775 38600173 38601257 +PA34443 6049 HGNC:10069 ENSG00000127870 ring finger protein 6 RNF6 RING-H2 protein RNF-6, ring finger protein (C3H2C3 type) 6 DKFZp686P0776 Yes No Comparative Toxicogenomics Database:6049, Ensembl:ENSG00000127870, GenAtlas:RNF6, GeneCard:RNF6, HGNC:HGNC:10069, HumanCyc Gene:HS05131, ModBase:Q9Y252, NCBI Gene:6049, OMIM:133239, OMIM:604242, RefSeq DNA:NG_017042, RefSeq DNA:NT_024524, RefSeq Protein:NP_005968, RefSeq Protein:NP_898864, RefSeq Protein:NP_898865, RefSeq RNA:NM_005977, RefSeq RNA:NM_183043, RefSeq RNA:NM_183044, UCSC Genome Browser:NM_005977, UniProtKB:B4DDP0, UniProtKB:Q5W0H0, UniProtKB:Q9Y252 No chr13 26786894 26796686 26132115 26222559 +PA34444 9616 HGNC:10070 ENSG00000114125 ring finger protein 7 RNF7 """RING-box protein 2"", ""regulator of cullins 2"", ""sensitive to apoptosis zinc RING finger protein SAG"", ""sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2""" CKBBP1, RBX2, ROC2, SAG Yes No Comparative Toxicogenomics Database:9616, Ensembl:ENSG00000114125, GenAtlas:RNF7, GeneCard:RNF7, HGNC:HGNC:10070, HumanCyc Gene:HS03743, ModBase:Q9UBF6, NCBI Gene:9616, OMIM:603863, RefSeq DNA:NT_005612, RefSeq Protein:NP_001188299, RefSeq Protein:NP_055060, RefSeq Protein:NP_899060, RefSeq RNA:NM_001201370, RefSeq RNA:NM_014245, RefSeq RNA:NM_183237, RefSeq RNA:NR_037702, RefSeq RNA:NR_037703, UCSC Genome Browser:NM_014245, UniProtKB:A8MTB5, UniProtKB:Q9UBF6 No chr3 141457051 141465645 141738209 141746803 +PA34445 9025 HGNC:10071 ENSG00000112130 ring finger protein 8 RNF8 ring finger protein 8, E3 ubiquitin protein ligase KIAA0646 Yes Yes Comparative Toxicogenomics Database:9025, Ensembl:ENSG00000112130, GenAtlas:RNF8, GeneCard:RNF8, HGNC:HGNC:10071, HumanCyc Gene:HS12763, ModBase:O76064, NCBI Gene:9025, OMIM:611685, RefSeq DNA:NT_007592, RefSeq Protein:NP_003949, RefSeq Protein:NP_898901, RefSeq RNA:NM_003958, RefSeq RNA:NM_183078, UCSC Genome Browser:NM_003958, UniProtKB:O76064 No chr6 37321748 37362514 37353972 37394738 +PA162401921 51136 HGNC:30206 ENSG00000189050 ring finger protein, transmembrane 1 RNFT1 PTD016 Yes No Ensembl:ENSG00000189050, GeneCard:RNFT1, HGNC:HGNC:30206, ModBase:Q5M7Z0, NCBI Gene:51136, RefSeq DNA:NT_010783, RefSeq Protein:NP_057209, RefSeq RNA:NM_016125, UniProtKB:Q5M7Z0 No chr17 58029723 58042117 59952362 59964756 +PA162401944 84900 HGNC:25905 ENSG00000135119 ring finger protein, transmembrane 2 RNFT2 FLJ14627, TMEM118 Yes Yes Ensembl:ENSG00000135119, GeneCard:RNFT2, HGNC:HGNC:25905, HumanCyc Gene:HS05959, ModBase:Q96EX2, NCBI Gene:84900, RefSeq DNA:NT_009775, RefSeq Protein:NP_001103373, RefSeq Protein:NP_116203, RefSeq RNA:NM_001109903, RefSeq RNA:NM_032814, UniProtKB:Q96EX2 No chr12 117176096 117291436 116738291 116853631 +PA34446 8732 HGNC:10073 ENSG00000111880 RNA guanylyltransferase and 5'-phosphatase RNGTT HCE, HCE1, hCAP Yes No Comparative Toxicogenomics Database:8732, Ensembl:ENSG00000111880, GenAtlas:RNGTT, GeneCard:RNGTT, HGNC:HGNC:10073, HumanCyc Gene:HS03479, ModBase:O60942, NCBI Gene:8732, OMIM:603512, RefSeq DNA:NT_007299, RefSeq Protein:NP_003791, RefSeq RNA:NM_003800, UCSC Genome Browser:NM_003800, UniProtKB:O60942 No chr6 89319988 89673440 88609897 88963716 +PA34447 6050 HGNC:10074 ENSG00000023191 ribonuclease/angiogenin inhibitor 1 RNH1 RAI, RNH Yes No Comparative Toxicogenomics Database:6050, Ensembl:ENSG00000023191, GenAtlas:RNH1, GeneCard:RNH1, HGNC:HGNC:10074, HumanCyc Gene:HS00421, NCBI Gene:6050, OMIM:173320, RefSeq DNA:NT_009237, RefSeq Protein:NP_002930, RefSeq Protein:NP_976317, RefSeq Protein:NP_976318, RefSeq Protein:NP_976319, RefSeq Protein:NP_976320, RefSeq Protein:NP_976321, RefSeq Protein:NP_976322, RefSeq Protein:NP_976323, RefSeq RNA:NM_002939, RefSeq RNA:NM_203383, RefSeq RNA:NM_203384, RefSeq RNA:NM_203385, RefSeq RNA:NM_203386, RefSeq RNA:NM_203387, RefSeq RNA:NM_203388, RefSeq RNA:NM_203389, UCSC Genome Browser:NM_002939, UniProtKB:P13489 No chr11 494512 507283 494512 507283 +PA165549084 55328 HGNC:25641 ENSG00000184719 renalase, FAD dependent amine oxidase RNLS renalase, FAD-dependent amine oxidase C10orf59, FLJ11218, renalase Yes No Ensembl:ENSG00000184719, GeneCard:RNLS, HGNC:HGNC:25641, ModBase:Q5VYX0, NCBI Gene:55328, OMIM:609360, RefSeq DNA:NT_030059, RefSeq Protein:NP_001026879, RefSeq Protein:NP_060833, RefSeq RNA:NM_001031709, RefSeq RNA:NM_018363, UniProtKB:Q5VYX0 No chr10 90033621 90343611 88176458 88583860 +PA34448 8731 HGNC:10075 ENSG00000101654 RNA guanine-7 methyltransferase RNMT RNA (guanine-7-) methyltransferase, mRNA cap guanine-N7 methyltransferase N7-MTase, RG7MT1 Yes No Comparative Toxicogenomics Database:8731, Ensembl:ENSG00000101654, GenAtlas:RNMT, GeneCard:RNMT, HGNC:HGNC:10075, HumanCyc Gene:HS02296, ModBase:O43148, NCBI Gene:8731, OMIM:603514, RefSeq DNA:NT_010859, RefSeq Protein:NP_003790, RefSeq RNA:NM_003799, UCSC Genome Browser:NM_003799, UniProtKB:O43148 No chr18 13726659 13764555 13726647 13764556 +PA134865246 55599 HGNC:18666 ENSG00000185946 RNA binding region (RNP1, RRM) containing 3 RNPC3 """RNA-binding region (RNP1, RRM) containing 3"", ""U11/U12 snRNP 65K""" FLJ20008, KIAA1839, RBM40, SNRNP65 Yes No Ensembl:ENSG00000185946, GeneCard:RNPC3, HGNC:HGNC:18666, ModBase:Q96LT9, NCBI Gene:55599, RefSeq DNA:NG_004750, RefSeq DNA:NT_032977, RefSeq Protein:NP_060089, RefSeq RNA:NM_017619, UniProtKB:Q96LT9 No chr1 104068323 104097861 103525956 103555239 +PA34451 6051 HGNC:10078 ENSG00000176393 arginyl aminopeptidase RNPEP aminopeptidase B, arginyl aminopeptidase (aminopeptidase B) APB Yes No Comparative Toxicogenomics Database:6051, Ensembl:ENSG00000176393, GenAtlas:RNPEP, GeneCard:RNPEP, HGNC:HGNC:10078, HumanCyc Gene:HS11046, ModBase:Q9H4A4, NCBI Gene:6051, OMIM:602675, RefSeq DNA:NT_004487, RefSeq Protein:NP_064601, RefSeq RNA:NM_020216, UCSC Genome Browser:NM_020216, UniProtKB:Q9H4A4 No chr1 201951766 201975275 201982638 202006147 +PA34452 57140 HGNC:10079 ENSG00000142327 arginyl aminopeptidase like 1 RNPEPL1 aminopeptidase B-like 1, arginyl aminopeptidase (aminopeptidase B)-like 1 Yes No Ensembl:ENSG00000142327, GenAtlas:RNPEPL1, GeneCard:RNPEPL1, HGNC:HGNC:10079, HumanCyc Gene:HS06918, ModBase:Q9HAU8, NCBI Gene:57140, OMIM:605287, RefSeq DNA:NT_005416, RefSeq Protein:NP_060696, RefSeq RNA:NM_018226, UCSC Genome Browser:NM_018226, UniProtKB:Q9HAU8 No chr2 241507952 241518149 240568526 240578732 +PA34453 10921 HGNC:10080 ENSG00000205937 RNA binding protein with serine rich domain 1 RNPS1 RNA binding protein S1, serine-rich domain Yes No Comparative Toxicogenomics Database:10921, Ensembl:ENSG00000205937, GenAtlas:RNPS1, GeneCard:RNPS1, HGNC:HGNC:10080, HumanCyc Gene:HS09669, ModBase:Q15287, NCBI Gene:10921, OMIM:606447, RefSeq DNA:NT_010393, RefSeq Protein:NP_006702, RefSeq Protein:NP_542161, RefSeq RNA:NM_006711, RefSeq RNA:NM_080594, UCSC Genome Browser:NM_006711, UniProtKB:Q15287 No chr16 2303100 2318413 2253116 2268412 +PA34454 6052 HGNC:10082 RNA, ribosomal cluster 1 RNR1 Yes No GenAtlas:RNR1, GeneCard:RNR1, HGNC:HGNC:10082, NCBI Gene:6052, OMIM:180450 No chr13 +PA34455 6053 HGNC:10083 RNA, ribosomal cluster 2 RNR2 Yes No GenAtlas:RNR2, GeneCard:RNR2, HGNC:HGNC:10083, NCBI Gene:6053, OMIM:180451 No chr14 +PA34456 6054 HGNC:10084 RNA, ribosomal cluster 3 RNR3 Yes No GenAtlas:RNR3, GeneCard:RNR3, HGNC:HGNC:10084, NCBI Gene:6054, OMIM:180452 No chr15 +PA34457 6055 HGNC:10085 RNA, ribosomal cluster 4 RNR4 Yes No GenAtlas:RNR4, GeneCard:RNR4, HGNC:HGNC:10085, NCBI Gene:6055, OMIM:180453 No chr21 +PA34458 6056 HGNC:10086 RNA, ribosomal cluster 5 RNR5 Yes No GenAtlas:RNR5, GeneCard:RNR5, HGNC:HGNC:10086, NCBI Gene:6056, OMIM:180454 No chr22 +PA34468 26767 HGNC:10103 ENSG00000201348 RNA, U105B small nucleolar RNU105B E1-2 Yes No Ensembl:ENSG00000201348, GenAtlas:RNU105B, GeneCard:RNU105B, HGNC:HGNC:10103, NCBI Gene:26767, RefSeq RNA:NR_004386 No chr20 8811832 8812040 8831185 8831393 +PA34469 26766 HGNC:10104 ENSG00000199212 RNA, U105C small nucleolar RNU105C E1-5, E1-6, U105C Yes No Ensembl:ENSG00000199212, GenAtlas:RNU105C, GeneCard:RNU105C, HGNC:HGNC:10104, NCBI Gene:26766, RefSeq RNA:NR_004385 No chr8 55243246 55243455 54330686 54330895 +PA34487 26871 HGNC:10120 ENSG00000206652 RNA, U1 small nuclear 1 RNU1-1 HSD1, HU1-1, Rnu1a1, U1, U1A1 Yes No Ensembl:ENSG00000206652, GenAtlas:RNU1A3, GeneCard:RNU1-1, GeneCard:RNU1A3, HGNC:HGNC:10120, HumanCyc Gene:HS11799, NCBI Gene:26871, RefSeq DNA:NT_004610, RefSeq RNA:NR_004430 No chr1 16840617 16840780 16514122 16514285 +PA34473 26824 HGNC:10108 ENSG00000274978 RNA, U11 small nuclear RNU11 RNU11-1, U11 Yes No Comparative Toxicogenomics Database:26824, Ensembl:ENSG00000274978, GenAtlas:RNU11, GeneCard:RNU11, HGNC:HGNC:10108, HumanCyc Gene:HS11769, NCBI Gene:26824, RefSeq DNA:NT_004610, RefSeq RNA:NR_004407 No chr1 28975112 28975246 28648600 28648734 +PA34503 26861 HGNC:10137 ENSG00000206702 RNA, U1 small nuclear 11, pseudogene RNU1-11P RNU1P1, U1P1A Yes No Ensembl:ENSG00000206702, GenAtlas:RNU1P5, GeneCard:RNU1-11P, HGNC:HGNC:10137, NCBI Gene:26861, RefSeq DNA:NG_001264 No chr6 13214272 13214487 13214040 13214255 +PA34505 26859 HGNC:10139 ENSG00000199629 RNA, U1 small nuclear 14, pseudogene RNU1-14P U1P17 Yes No Ensembl:ENSG00000199629, GenAtlas:RNU1P7, GeneCard:RNU1-14P, HGNC:HGNC:10139, NCBI Gene:26859, RefSeq DNA:NG_001262, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592 No chr7 53433751 53433904 53366058 53366211 +PA34506 26858 HGNC:10140 ENSG00000195024 RNA, U1 small nuclear 15, pseudogene RNU1-15P U1P11 Yes No Ensembl:ENSG00000195024, GenAtlas:RNU1P8, GeneCard:RNU1-15P, HGNC:HGNC:10140, NCBI Gene:26858, RefSeq DNA:NG_001261, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 21420981 21421112 21381363 21381494 +PA34489 26870 HGNC:10123 ENSG00000207005 RNA, U1 small nuclear 2 RNU1-2 U1C1, U1C21 Yes No Ensembl:ENSG00000207005, GenAtlas:RNU1C1, GeneCard:RNU1-2, GeneCard:RNU1C1, HGNC:HGNC:10123, HumanCyc Gene:HS11798, NCBI Gene:26870, RefSeq DNA:NT_004610, RefSeq RNA:NR_004427 No chr1 17222475 17222638 16895980 16896143 +PA34474 267010 HGNC:19380 ENSG00000276027 RNA, U12 small nuclear RNU12 RNA, U12 small nuclear 1 RNU12-1 Yes No Ensembl:ENSG00000276027, GenAtlas:RNU12, GeneCard:RNU12, HGNC:HGNC:19380, NCBI Gene:267010, RefSeq DNA:NG_002405, RefSeq DNA:NT_011520, RefSeq RNA:NR_029422 No chr22 43011251 43011399 42615245 42615393 +PA34494 26865 HGNC:37497 ENSG00000206596 RNA, U1 small nuclear 27, pseudogene RNU1-27P Yes No Ensembl:ENSG00000206596, GenAtlas:RNU1G1, GeneCard:RNU1-7, GeneCard:RNU1G1, HGNC:HGNC:37497, HumanCyc Gene:HS11793, NCBI Gene:26865, RefSeq DNA:NT_026437, RefSeq RNA:NR_004424 No chr14 35015920 35016083 34546714 34546877 +PA34493 26866 HGNC:37498 ENSG00000206588 RNA, U1 small nuclear 28, pseudogene RNU1-28P Yes No Ensembl:ENSG00000206588, GenAtlas:RNU1F1, GeneCard:RNU1-8, GeneCard:RNU1F1, HGNC:HGNC:37498, HumanCyc Gene:HS11794, NCBI Gene:26866, RefSeq DNA:NT_026437, RefSeq RNA:NR_004402 No chr14 35025432 35025595 34556226 34556389 +PA34490 26869 HGNC:10130 ENSG00000207513 RNA, U1 small nuclear 3 RNU1-3 HSD4 Yes No Ensembl:ENSG00000207513, GenAtlas:RNU1C2, GeneCard:RNU1-3, GeneCard:RNU1C2, HGNC:HGNC:10130, HumanCyc Gene:HS11797, NCBI Gene:26869, RefSeq DNA:NT_004610, RefSeq RNA:NR_004408 No chr1 16993280 16993443 16666785 16666948 +PA34486 6060 HGNC:10128 ENSG00000207389 RNA, U1 small nuclear 4 RNU1-4 HSD2, HSD5, HSD6, HSD7, U1B2, U1D2, U1E2, U1F Yes No Ensembl:ENSG00000207389, GenAtlas:RNU1A, GeneCard:RNU1-4, GeneCard:RNU1A, HGNC:HGNC:10128, HumanCyc Gene:HS11813, NCBI Gene:6060, OMIM:180680, RefSeq DNA:NT_004610, RefSeq RNA:NR_004421 No chr1 17067011 17067174 16740516 16740679 +PA162401971 6066 HGNC:10142 ENSG00000274585 RNA, U2 small nuclear 1 RNU2-1 U2 Yes No Ensembl:ENSG00000274585, GeneCard:RNU2-1, HGNC:HGNC:10142, NCBI Gene:6066, OMIM:180690, RefSeq DNA:NT_032977, RefSeq DNA:NT_079596, RefSeq RNA:NR_002716 No chr17 +PA34519 26854 HGNC:10153 ENSG00000222076 RNA, U2 small nuclear 3, pseudogene RNU2-3P U2 Yes No Ensembl:ENSG00000222076, GenAtlas:RNU2P1, GeneCard:RNU2-3P, HGNC:HGNC:10153, NCBI Gene:26854, RefSeq DNA:NG_001258 No chr15 +PA34520 26853 HGNC:10154 ENSG00000277084 RNA, U2 small nuclear 4, pseudogene RNU2-4P U2, U2/7 Yes No Ensembl:ENSG00000277084, GenAtlas:RNU2P2, GeneCard:RNU2-4P, HGNC:HGNC:10154, NCBI Gene:26853, RefSeq DNA:NG_001257, RefSeq DNA:NT_010783 No chr17 41464597 41464885 43387229 43387517 +PA34521 26852 HGNC:10155 ENSG00000222465 RNA, U2 small nuclear 5, pseudogene RNU2-5P U2, u2.7 Yes No Ensembl:ENSG00000222465, GenAtlas:RNU2P3, GeneCard:RNU2-5P, HGNC:HGNC:10155, NCBI Gene:26852, RefSeq DNA:NG_001256, RefSeq DNA:NT_023935 No chr9 +PA34559 26835 HGNC:10192 ENSG00000200795 RNA, U4 small nuclear 1 RNU4-1 U4, U4BL Yes No Ensembl:ENSG00000200795, GenAtlas:RNU4B2, GeneCard:RNU4-1, GeneCard:RNU4B2, HGNC:HGNC:10192, HumanCyc Gene:HS11779, NCBI Gene:26835, RefSeq DNA:NT_009775, RefSeq RNA:NR_003925 No chr12 120730897 120731040 120293094 120293237 +PA162401975 26834 HGNC:10193 ENSG00000202538 RNA, U4 small nuclear 2 RNU4-2 RNU4-1B, U4A, U4b, U4c Yes No Ensembl:ENSG00000202538, GeneCard:RNU4-2, HGNC:HGNC:10193, HumanCyc Gene:HS11778, NCBI Gene:26834, RefSeq DNA:NT_009775, RefSeq RNA:NR_002759, RefSeq RNA:NR_003137 No chr12 120729566 120729706 120291763 120291903 +PA34563 26841 HGNC:10196 RNA, U4 small nuclear 3, pseudogene RNU4-3P U4, U4/4 Yes No GenAtlas:RNU4P3, GeneCard:RNU4-3P, HGNC:HGNC:10196, NCBI Gene:26841, RefSeq DNA:NG_001252, RefSeq DNA:NT_010966 No chr18 33844700 33844902 36264737 36264939 +PA34564 26840 HGNC:10197 ENSG00000201458 RNA, U4 small nuclear 4, pseudogene RNU4-4P U4, U4/5 Yes No Ensembl:ENSG00000201458, GenAtlas:RNU4P4, GeneCard:RNU4-4P, HGNC:HGNC:10197, NCBI Gene:26840, RefSeq DNA:NG_001251, RefSeq DNA:NT_005612 No chr3 +PA34565 26839 HGNC:10198 ENSG00000272160 RNA, U4 small nuclear 5, pseudogene RNU4-5P U4, U4/6 Yes No Ensembl:ENSG00000272160, GenAtlas:RNU4P5, GeneCard:RNU4-5P, HGNC:HGNC:10198, NCBI Gene:26839, RefSeq DNA:NG_001250, RefSeq DNA:NT_030059 No chr10 111629564 111629766 109869806 109870008 +PA34566 26838 HGNC:10199 ENSG00000222736 RNA, U4 small nuclear 6, pseudogene RNU4-6P U4, U4/8 Yes No Ensembl:ENSG00000222736, GenAtlas:RNU4P6, GeneCard:RNU4-6P, HGNC:HGNC:10199, NCBI Gene:26838, RefSeq DNA:NG_001249, RefSeq DNA:NT_011757 No chrX 16893240 16893443 16875117 16875320 +PA34561 6069 HGNC:10194 ENSG00000201628 RNA, U4 small nuclear 7, pseudogene RNU4-7P U4, U4/7 Yes No Ensembl:ENSG00000201628, GenAtlas:RNU4P1, GeneCard:RNU4-7P, HGNC:HGNC:10194, NCBI Gene:6069, RefSeq DNA:NG_001186, RefSeq DNA:NT_025741 No chr6 150647700 150648199 150326564 150327063 +PA34562 6070 HGNC:10195 ENSG00000201806 RNA, U4 small nuclear 8, pseudogene RNU4-8P U4, U4/14 Yes No Ensembl:ENSG00000201806, GenAtlas:RNU4P2, GeneCard:RNU4-8P, HGNC:HGNC:10195, NCBI Gene:6070, RefSeq DNA:NG_001187, RefSeq DNA:NT_022171 No chr2 98280755 98281433 97664292 97664970 +PA162401976 100151683 HGNC:34016 ENSG00000264229 RNA, U4atac small nuclear (U12-dependent splicing) RNU4ATAC RNU4ATAC1 Yes No Ensembl:ENSG00000264229, GeneCard:RNU4ATAC, HGNC:HGNC:34016, NCBI Gene:100151683, OMIM:601428, RefSeq DNA:NT_022135, RefSeq RNA:NR_023343 No chr2 122288456 122288585 121530880 121531009 +PA34579 26832 HGNC:10212 ENSG00000200156 RNA, U5B small nuclear 1 RNU5B-1 U5B1 Yes No Ensembl:ENSG00000200156, GenAtlas:RNU5B, GeneCard:RNU5B, GeneCard:RNU5B-1, HGNC:HGNC:10212, HumanCyc Gene:HS11776, NCBI Gene:26832, RefSeq DNA:NT_010194, RefSeq RNA:NR_002757 No chr15 65597015 65597131 65304677 65304793 +PA162401977 26827 HGNC:10227 ENSG00000206625 RNA, U6 small nuclear 1 RNU6-1 U6, U6-1 Yes No Ensembl:ENSG00000206625, GeneCard:RNU6-1, HGNC:HGNC:10227, HumanCyc Gene:HS11771, NCBI Gene:26827, OMIM:180692, RefSeq DNA:NT_010194, RefSeq DNA:NT_079596, RefSeq RNA:NR_004394 No chr15 68132278 68132383 67839940 67840045 +PA164725458 100873745 HGNC:34254 ENSG00000206763 RNA, U6 small nuclear 10, pseudogene RNU6-10P Yes No Ensembl:ENSG00000206763, HGNC:HGNC:34254, NCBI Gene:100873745 No chr7 92331022 92331128 92701708 92701814 +PA164725462 100873746 HGNC:34258 ENSG00000207360 RNA, U6 small nuclear 14, pseudogene RNU6-14P Yes No Ensembl:ENSG00000207360, HGNC:HGNC:34258, NCBI Gene:100873746 No chr9 15776179 15776284 15776181 15776286 +PA164725463 100302741 HGNC:34259 ENSG00000207264 RNA, U6 small nuclear 15, pseudogene RNU6-15P Yes No Ensembl:ENSG00000207264, HGNC:HGNC:34259, NCBI Gene:100302741 No chr10 21610890 21610996 21321961 21322067 +PA164725464 100873753 HGNC:34260 ENSG00000207113 RNA, U6 small nuclear 16, pseudogene RNU6-16P Yes No Ensembl:ENSG00000207113, HGNC:HGNC:34260, NCBI Gene:100873753 No chr11 88345973 88346079 +PA164725467 100873754 HGNC:34263 ENSG00000207449 RNA, U6 small nuclear 19, pseudogene RNU6-19P Yes No Ensembl:ENSG00000207449, HGNC:HGNC:34263, NCBI Gene:100873754 No chr15 65845419 65845525 65553081 65553187 +PA164725469 100302738 HGNC:34265 ENSG00000207441 RNA, U6 small nuclear 21, pseudogene RNU6-21P Yes No Ensembl:ENSG00000207441, HGNC:HGNC:34265, NCBI Gene:100302738 No chr16 62221444 62221550 +PA164725471 100873755 HGNC:34267 ENSG00000200153 RNA, U6 small nuclear 23, pseudogene RNU6-23P Yes No Ensembl:ENSG00000200153, HGNC:HGNC:34267, NCBI Gene:100873755 No chr16 70479199 70479302 70445296 70445399 +PA164725503 100873741 HGNC:34252 ENSG00000206712 RNA, U6 small nuclear 26, pseudogene RNU6-26P Yes No Ensembl:ENSG00000206712, HGNC:HGNC:34252, NCBI Gene:100873741 No chr3 98523822 98523928 98804978 98805084 +PA164725476 100873756 HGNC:34272 ENSG00000199248 RNA, U6 small nuclear 28, pseudogene RNU6-28P Yes No Ensembl:ENSG00000199248, HGNC:HGNC:34272, NCBI Gene:100873756 No chr22 31875371 31875474 31479385 31479488 +PA164725479 100873747 HGNC:34274 ENSG00000207291 RNA, U6 small nuclear 30, pseudogene RNU6-30P Yes No Ensembl:ENSG00000207291, HGNC:HGNC:34274, NCBI Gene:100873747 No chrX 100888994 100889100 101634006 101634112 +PA164725501 100873740 HGNC:34250 ENSG00000207116 RNA, U6 small nuclear 31, pseudogene RNU6-31P Yes No Ensembl:ENSG00000207116, HGNC:HGNC:34250, NCBI Gene:100873740 No chr2 201694732 201694839 +PA164725482 100873748 HGNC:34277 ENSG00000207524 RNA, U6 small nuclear 33, pseudogene RNU6-33P Yes No Ensembl:ENSG00000207524, HGNC:HGNC:34277, NCBI Gene:100873748 No chr4 89605999 89606105 +PA164725483 100873749 HGNC:34278 ENSG00000201744 RNA, U6 small nuclear 34, pseudogene RNU6-34P Yes No Ensembl:ENSG00000201744, HGNC:HGNC:34278, NCBI Gene:100873749 No chr4 97073450 97073554 96152299 96152403 +PA164725484 100873750 HGNC:34279 ENSG00000207260 RNA, U6 small nuclear 35, pseudogene RNU6-35P Yes No Ensembl:ENSG00000207260, HGNC:HGNC:34279, NCBI Gene:100873750 No chr4 110913481 110913587 109992325 109992431 +PA164725485 100873757 HGNC:34280 ENSG00000206899 RNA, U6 small nuclear 36, pseudogene RNU6-36P Yes No Ensembl:ENSG00000206899, HGNC:HGNC:34280, NCBI Gene:100873757 No chr12 98115494 98115600 97721716 97721822 +PA164725488 100873758 HGNC:34283 ENSG00000207072 RNA, U6 small nuclear 39, pseudogene RNU6-39P Yes No Ensembl:ENSG00000207072, HGNC:HGNC:34283, NCBI Gene:100873758 No chr18 66526171 66526277 68858934 68859040 +PA164725492 100302742 HGNC:34286 ENSG00000206892 RNA, U6 small nuclear 42, pseudogene RNU6-42P Yes No Ensembl:ENSG00000206892, HGNC:HGNC:34286, NCBI Gene:100302742 No chr3 196511851 196511957 196784980 196785086 +PA164725495 100873759 HGNC:34289 ENSG00000207200 RNA, U6 small nuclear 45, pseudogene RNU6-45P Yes No Ensembl:ENSG00000207200, HGNC:HGNC:34289, NCBI Gene:100873759 No chr11 63737942 63738048 63970470 63970576 +PA164725496 100873760 HGNC:34290 ENSG00000206587 RNA, U6 small nuclear 46, pseudogene RNU6-46P Yes No Ensembl:ENSG00000206587, HGNC:HGNC:34290, NCBI Gene:100873760 No chr11 67663102 67663208 67895631 67895737 +PA164725498 100887744 HGNC:34292 ENSG00000206888 RNA, U6 small nuclear 48, pseudogene RNU6-48P Yes No Ensembl:ENSG00000206888, HGNC:HGNC:34292, NCBI Gene:100887744 No chr1 27651710 27651816 27325219 27325325 +PA34596 26825 HGNC:10229 ENSG00000199226 RNA, U6 small nuclear 50, pseudogene RNU6-50P U6 Yes No Ensembl:ENSG00000199226, GenAtlas:RNU6P1, GeneCard:RNU6-50, HGNC:HGNC:10229, NCBI Gene:26825, RefSeq DNA:NG_001248, RefSeq DNA:NT_079573 No chrX +PA162401978 26826 HGNC:10228 ENSG00000272055 RNA, U6 small nuclear 6, pseudogene RNU6-6P U6-6 Yes No Ensembl:ENSG00000272055, GeneCard:RNU6-2, HGNC:HGNC:10228, HumanCyc Gene:HS11770, NCBI Gene:26826, RefSeq DNA:NT_008705, RefSeq DNA:NT_079596, RefSeq RNA:NR_002752 No chr10 13259269 13259375 13217269 13217375 +PA164725502 HGNC:34284 RNA, U6 small nuclear 7 RNU6-7 Yes No HGNC:HGNC:34284 No +PA164725504 HGNC:34269 RNA, U6 small nuclear 9 RNU6-9 Yes No HGNC:HGNC:34269 No +PA162401979 100151684 HGNC:34017 ENSG00000221676 RNA, U6atac small nuclear (U12-dependent splicing) RNU6ATAC RNA, U6atac small nuclear 1 RNU6ATAC1 Yes No Ensembl:ENSG00000221676, GeneCard:RNU6ATAC, HGNC:HGNC:34017, NCBI Gene:100151684, OMIM:601429, RefSeq DNA:NT_035014, RefSeq RNA:NR_023344 No chr9 137029562 137029686 134164440 134164564 +PA34597 6071 HGNC:10230 ENSG00000206832 RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence RNU6V 87U6, LH87 Yes No Ensembl:ENSG00000206832, GenAtlas:RNU6V, GeneCard:RNU6V, HGNC:HGNC:10230, NCBI Gene:6071, RefSeq DNA:NG_009877, RefSeq DNA:NT_032977 No chr1 110133927 110134262 109591305 109591640 +PA162401980 100147744 HGNC:34033 ENSG00000238923 RNA, U7 small nuclear 1 RNU7-1 RNA, small nuclear U7.1 U7.1 Yes No Ensembl:ENSG00000238923, GeneCard:RNU7-1, HGNC:HGNC:34033, NCBI Gene:100147744, RefSeq DNA:NT_009759, RefSeq RNA:NR_023317 No chr12 7052979 7053041 6943816 6943878 +PA34605 6074 HGNC:34120 ENSG00000239081 RNA, U7 small nuclear 24 pseudogene RNU7-24P HSU7.25, U7.24 Yes No Ensembl:ENSG00000239081, GenAtlas:RNU7P3, GeneCard:RNU7-24P, HGNC:HGNC:34120, NCBI Gene:6074, RefSeq DNA:NG_001190, RefSeq DNA:NT_010393 No chr16 +PA34606 6075 HGNC:10239 ENSG00000239078 RNA, U7 small nuclear 55 pseudogene RNU7-55P HSU7.36, U7.55 Yes No Ensembl:ENSG00000239078, GenAtlas:RNU7P4, GeneCard:RNU7-55P, HGNC:HGNC:10239, NCBI Gene:6075, RefSeq DNA:NG_001191, RefSeq DNA:NT_077531 No chr8 +PA34603 6072 HGNC:10236 RNA, U7 small nuclear 68 pseudogene RNU7-68P HSU7.732A, U7.68 Yes No GenAtlas:RNU7P1, GeneCard:RNU7-68P, HGNC:HGNC:10236, NCBI Gene:6072, RefSeq DNA:NG_001188, RefSeq DNA:NT_011786 No chrX +PA34604 6073 HGNC:10237 RNA, U7 small nuclear 86 pseudogene RNU7-86P HSU7.7/32B Yes No GenAtlas:RNU7P2, GeneCard:RNU7-86P, HGNC:HGNC:10237, NCBI Gene:6073, RefSeq DNA:NG_001189, RefSeq DNA:NT_011786 No chrX +PA34499 101954273 HGNC:10133 ENSG00000207340 RNA, variant U1 small nuclear 1 RNVU1-1 U1.4, U1P14, vU1.1 Yes No Ensembl:ENSG00000207340, GenAtlas:RNU1P10, GeneCard:RNU1-10P, HGNC:HGNC:10133, NCBI Gene:101954273, RefSeq DNA:NG_001259, RefSeq DNA:NT_113797 No chr1 +PA34496 26863 HGNC:37496 ENSG00000206737 RNA, variant U1 small nuclear 18 RNVU1-18 RNU1P1, RNU1P9, U1.15, U1P101, U1P15, vU1.18 Yes No Ensembl:ENSG00000206737, GenAtlas:RNU1G3, GeneCard:RNU1-5, GeneCard:RNU1G3, HGNC:HGNC:37496, HumanCyc Gene:HS11791, NCBI Gene:26863, RefSeq DNA:NG_001183, RefSeq DNA:NG_001260, RefSeq DNA:NT_004487, RefSeq RNA:NR_004400 No chr1 149224058 149224221 143729407 143729570 +PA34495 26864 HGNC:37500 ENSG00000206585 RNA, variant U1 small nuclear 7 RNVU1-7 RNVU1-9, vU1.7 Yes No Ensembl:ENSG00000206585, GenAtlas:RNU1G2, GeneCard:RNU1-9, GeneCard:RNU1G2, HGNC:HGNC:37500, HumanCyc Gene:HS11792, NCBI Gene:26864, RefSeq DNA:NT_167185, RefSeq RNA:NR_004426 No chr1 145969270 145969433 148038753 148038916 +PA34613 6084 HGNC:10242 ENSG00000201098 RNA, Ro-associated Y1 RNY1 hY1 Yes No Ensembl:ENSG00000201098, GenAtlas:RNY1, GeneCard:RNY1, HGNC:HGNC:10242, HumanCyc Gene:HS11820, NCBI Gene:6084, OMIM:601821, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq RNA:NR_004391 No chr7 148684228 148684340 148987136 148987248 +PA34614 6085 HGNC:10243 ENSG00000202354 RNA, Ro-associated Y3 RNY3 hY3 Yes No Ensembl:ENSG00000202354, GenAtlas:RNY3, GeneCard:RNY3, HGNC:HGNC:10243, HumanCyc Gene:HS11821, NCBI Gene:6085, OMIM:601822, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq RNA:NR_004392 No chr7 148680847 148680948 148983755 148983856 +PA34615 6086 HGNC:10244 ENSG00000252316 RNA, Ro-associated Y4 RNY4 HY4 Yes No Ensembl:ENSG00000252316, GenAtlas:RNY4, GeneCard:RNY4, HGNC:HGNC:10244, HumanCyc Gene:HS11822, NCBI Gene:6086, OMIM:601823, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq RNA:NR_004393 No chr7 148660407 148660502 148963315 148963410 +PA34616 6087 HGNC:10245 RNA, Ro-associated Y4 pseudogene 1 RNY4P1 hY4.B8 Yes No GenAtlas:RNY4P1, GeneCard:RNY4P1, HGNC:HGNC:10245, NCBI Gene:6087, RefSeq DNA:NG_005036, RefSeq DNA:NT_008470 No chr9 77462422 77462515 74847506 74847599 +PA164725505 100379592 HGNC:34060 ENSG00000202441 RNA, Ro-associated Y4 pseudogene 10 RNY4P10 Yes No Ensembl:ENSG00000202441, HGNC:HGNC:34060, NCBI Gene:100379592 No chr6 33167378 33167469 33199601 33199692 +PA164725506 100379288 HGNC:34061 RNA, Ro-associated Y4 pseudogene 11 RNY4P11 Yes No HGNC:HGNC:34061, NCBI Gene:100379288 No chr20 +PA164725508 100379296 HGNC:34063 ENSG00000207011 RNA, Ro-associated Y4 pseudogene 13 RNY4P13 Yes No Ensembl:ENSG00000207011, HGNC:HGNC:34063, NCBI Gene:100379296 No chr17 28386072 28386165 30059054 30059147 +PA164725509 100379584 HGNC:34064 ENSG00000200526 RNA, Ro-associated Y4 pseudogene 14 RNY4P14 Yes No Ensembl:ENSG00000200526, HGNC:HGNC:34064, NCBI Gene:100379584 No chr13 40359556 40359647 39785419 39785510 +PA164725510 100379291 HGNC:34065 RNA, Ro-associated Y4 pseudogene 15 RNY4P15 Yes No HGNC:HGNC:34065, NCBI Gene:100379291 No chr2 +PA164725511 100431173 HGNC:34066 ENSG00000201638 RNA, Ro-associated Y4 pseudogene 16 RNY4P16 Yes No Ensembl:ENSG00000201638, HGNC:HGNC:34066, NCBI Gene:100431173 No chr1 234973720 234973817 234837973 234838070 +PA164725512 100379564 HGNC:34067 ENSG00000201818 RNA, Ro-associated Y4 pseudogene 17 RNY4P17 Yes No Ensembl:ENSG00000201818, HGNC:HGNC:34067, NCBI Gene:100379564 No chr4 169926400 169926494 169005249 169005343 +PA164725513 100379298 HGNC:34068 ENSG00000212409 RNA, Ro-associated Y4 pseudogene 18 RNY4P18 Yes No Ensembl:ENSG00000212409, HGNC:HGNC:34068, NCBI Gene:100379298 No chr9 113859607 113859693 111097327 111097413 +PA34617 6088 HGNC:10246 RNA, Ro-associated Y4 pseudogene 2 RNY4P2 hY4.B7 Yes No GenAtlas:RNY4P2, GeneCard:RNY4P2, HGNC:HGNC:10246, NCBI Gene:6088, RefSeq DNA:NG_005037, RefSeq DNA:NT_010783 No chr17 41084867 41084959 42932850 42932942 +PA164725514 100379378 HGNC:34070 ENSG00000252487 RNA, Ro-associated Y4 pseudogene 20 RNY4P20 Yes No Ensembl:ENSG00000252487, HGNC:HGNC:34070, NCBI Gene:100379378 No chr6 151619977 151620068 151298842 151298933 +PA34618 6089 HGNC:10247 ENSG00000202124 RNA, Ro-associated Y4 pseudogene 3 RNY4P3 hY4.F2 Yes No Ensembl:ENSG00000202124, GenAtlas:RNY4P3, GeneCard:RNY4P3, HGNC:HGNC:10247, NCBI Gene:6089, RefSeq DNA:NG_005038, RefSeq DNA:NT_010498 No chr16 50132175 50132267 50098264 50098356 +PA164725515 100379297 HGNC:34050 RNA, Ro-associated Y4 pseudogene 4 RNY4P4 Yes No HGNC:HGNC:34050, NCBI Gene:100379297 No chr3 136307051 136307153 136588209 136588311 +PA164725516 100379299 HGNC:34052 RNA, Ro-associated Y4 pseudogene 5 RNY4P5 Yes No HGNC:HGNC:34052, NCBI Gene:100379299 No chr8 124056957 124057051 123044717 123044811 +PA164725517 100379287 HGNC:34055 ENSG00000200537 RNA, Ro-associated Y4 pseudogene 6 RNY4P6 Yes No Ensembl:ENSG00000200537, HGNC:HGNC:34055, NCBI Gene:100379287 No chr11 116886613 116886707 117015897 117015991 +PA164725518 100379295 HGNC:34057 RNA, Ro-associated Y4 pseudogene 8 RNY4P8 Yes No HGNC:HGNC:34057, NCBI Gene:100379295 No chr17 38399475 38399569 40243223 40243317 +PA164725519 100379300 HGNC:34058 ENSG00000200064 RNA, Ro-associated Y4 pseudogene 9 RNY4P9 Yes No Ensembl:ENSG00000200064, HGNC:HGNC:34058, NCBI Gene:100379300 No chr13 +PA34619 6090 HGNC:10248 RNA, Ro-associated Y5 RNY5 Yes No GenAtlas:RNY5, GeneCard:RNY5, HGNC:HGNC:10248, HumanCyc Gene:HS11823, NCBI Gene:6090, OMIM:601824, RefSeq DNA:NT_007914, RefSeq DNA:NT_029419, RefSeq DNA:NT_079596, RefSeq RNA:NR_001571 No chr7 148638580 148638663 148941488 148941571 +PA164725520 100379666 HGNC:34082 RNA, Ro-associated Y5 pseudogene 1 RNY5P1 Yes No HGNC:HGNC:34082, NCBI Gene:100379666 No chr1 35893411 35893493 35427810 35427892 +PA164725521 100381208 HGNC:34083 RNA, Ro-associated Y5 pseudogene 2 RNY5P2 Yes No HGNC:HGNC:34083, NCBI Gene:100381208 No chr2 +PA164725522 100379664 HGNC:34084 RNA, Ro-associated Y5 pseudogene 3 RNY5P3 Yes No HGNC:HGNC:34084, NCBI Gene:100379664 No chr3 170559887 170559961 170842098 170842172 +PA164725523 100380271 HGNC:34085 RNA, Ro-associated Y5 pseudogene 4 RNY5P4 Yes No HGNC:HGNC:34085, NCBI Gene:100380271 No chr4 130781575 130781655 129860420 129860500 +PA164725524 100379658 HGNC:34086 RNA, Ro-associated Y5 pseudogene 5 RNY5P5 Yes No HGNC:HGNC:34086, NCBI Gene:100379658 No chr6 25192641 25192714 25192413 25192486 +PA164725525 100379663 HGNC:34087 RNA, Ro-associated Y5 pseudogene 6 RNY5P6 Yes No HGNC:HGNC:34087, NCBI Gene:100379663 No chr8 43008119 43008194 43152976 43153051 +PA164725526 100380878 HGNC:34089 RNA, Ro-associated Y5 pseudogene 8 RNY5P8 Yes No HGNC:HGNC:34089, NCBI Gene:100380878 No chr13 103472349 103472416 102819999 102820066 +PA36137 6738 HGNC:11313 ENSG00000116747 Ro60, Y RNA binding protein RO60 """60 kDa SS-A/Ro ribonucleoprotein"", ""Ro/SSA 60kDa"", ""TROVE domain family, member 2""" Ro60, SSA2, TROVE2 Yes No Ensembl:ENSG00000116747, GenAtlas:TROVE2, GeneCard:TROVE2, HGNC:HGNC:11313, HumanCyc Gene:HS04045, ModBase:P10155, NCBI Gene:6738, OMIM:600063, RefSeq DNA:NT_004487, RefSeq Protein:NP_001035828, RefSeq Protein:NP_001035829, RefSeq Protein:NP_001166995, RefSeq Protein:NP_001166996, RefSeq Protein:NP_004591, RefSeq RNA:NM_001042369, RefSeq RNA:NM_001042370, RefSeq RNA:NM_001173524, RefSeq RNA:NM_001173525, RefSeq RNA:NM_004600, RefSeq RNA:NR_033393, UCSC Genome Browser:NM_004600, UniProtKB:P10155, UniProtKB:Q5LJ98, UniProtKB:Q5LJ99, UniProtKB:Q5LJA0, UniProtKB:Q86WL3, UniProtKB:Q86WL4 No chr1 193028552 193060907 193059422 193091777 +PA34620 6091 HGNC:10249 ENSG00000169855 roundabout guidance receptor 1 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) DUTT1, FLJ21882, SAX3 Yes No Comparative Toxicogenomics Database:6091, Ensembl:ENSG00000169855, GenAtlas:ROBO1, GeneCard:ROBO1, HGNC:HGNC:10249, HumanCyc Gene:HS10017, ModBase:Q9Y6N7, NCBI Gene:6091, OMIM:602430, RefSeq DNA:NG_011729, RefSeq DNA:NT_022459, RefSeq Protein:NP_001139317, RefSeq Protein:NP_002932, RefSeq Protein:NP_598334, RefSeq RNA:NM_001145845, RefSeq RNA:NM_002941, RefSeq RNA:NM_133631, UCSC Genome Browser:NM_002941, UniProtKB:B2RXI1, UniProtKB:Q1RMC7, UniProtKB:Q1RMC8, UniProtKB:Q9Y6N7 No chr3 78646388 79817059 78597238 79767998 +PA34621 6092 HGNC:10250 ENSG00000185008 roundabout guidance receptor 2 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) KIAA1568 Yes No Comparative Toxicogenomics Database:6092, Ensembl:ENSG00000185008, GenAtlas:ROBO2, GeneCard:ROBO2, HGNC:HGNC:10250, ModBase:Q9HCK4, NCBI Gene:6092, OMIM:602431, OMIM:610878, RefSeq DNA:NT_022459, RefSeq Protein:NP_001122401, RefSeq Protein:NP_002933, RefSeq RNA:NM_001128929, RefSeq RNA:NM_002942, UniProtKB:Q19AB5, UniProtKB:Q9HCK4 No chr3 75955845 77699115 75906675 77649964 +PA134896648 64221 HGNC:13433 ENSG00000154134 roundabout guidance receptor 3 ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) FLJ21044, HGPPS, HGPS, RBIG1 Yes No Comparative Toxicogenomics Database:64221, Ensembl:ENSG00000154134, GeneCard:ROBO3, HGNC:HGNC:13433, HumanCyc Gene:HS14509, ModBase:Q96MS0, NCBI Gene:64221, OMIM:607313, OMIM:608630, RefSeq DNA:NG_016214, RefSeq DNA:NT_033899, RefSeq Protein:NP_071765, RefSeq RNA:NM_022370, UniProtKB:Q96MS0 No chr11 124735305 124751370 124865409 124881474 +PA34622 54538 HGNC:17985 ENSG00000154133 roundabout guidance receptor 4 ROBO4 """magic roundabout"", ""roundabout, axon guidance receptor, homolog 4 (Drosophila)""" ECSM4, FLJ20798, MRB Yes No Comparative Toxicogenomics Database:54538, Ensembl:ENSG00000154133, GenAtlas:ROBO4, GeneCard:ROBO4, HGNC:HGNC:17985, HumanCyc Gene:HS14508, ModBase:Q8WZ75, NCBI Gene:54538, OMIM:607528, RefSeq DNA:NT_033899, RefSeq Protein:NP_061928, RefSeq RNA:NM_019055, UCSC Genome Browser:NM_019055, UniProtKB:Q8WZ75 No chr11 124754114 124767857 124884218 124897935 +PA34623 6093 HGNC:10251 ENSG00000067900 Rho associated coiled-coil containing protein kinase 1 ROCK1 Rho-associated, coiled-coil containing protein kinase 1 p160ROCK Yes No Comparative Toxicogenomics Database:6093, Ensembl:ENSG00000067900, GenAtlas:ROCK1, GeneCard:ROCK1, HGNC:HGNC:10251, HumanCyc Gene:HS00922, ModBase:Q13464, NCBI Gene:6093, OMIM:601702, RefSeq DNA:NT_010966, RefSeq Protein:NP_005397, RefSeq RNA:NM_005406, UCSC Genome Browser:NM_005406, UniProtKB:Q13464 No chr18 18529701 18691812 20949740 21111851 +PA34624 9475 HGNC:10252 ENSG00000134318 Rho associated coiled-coil containing protein kinase 2 ROCK2 Rho-associated, coiled-coil containing protein kinase 2 Yes No Comparative Toxicogenomics Database:9475, Ensembl:ENSG00000134318, GenAtlas:ROCK2, GeneCard:ROCK2, HGNC:HGNC:10252, HumanCyc Gene:HS05855, ModBase:O75116, NCBI Gene:9475, OMIM:604002, RefSeq DNA:NT_005334, RefSeq Protein:NP_004841, RefSeq RNA:NM_004850, UCSC Genome Browser:NM_004850, UniProtKB:O75116 No chr2 11319894 11484711 11179759 11345407 +PA143485597 79641 HGNC:29478 ENSG00000067836 rogdi atypical leucine zipper ROGDI rogdi homolog (Drosophila) FLJ22386, RAV2, ROGD1 Yes No Comparative Toxicogenomics Database:79641, Ensembl:ENSG00000067836, GeneCard:ROGDI, HGNC:HGNC:29478, HumanCyc Gene:HS12189, ModBase:Q9GZN7, NCBI Gene:79641, RefSeq DNA:NT_010393, RefSeq Protein:NP_078865, RefSeq RNA:NM_024589, UniProtKB:Q9GZN7 No chr16 4846963 4852951 4796962 4802950 +PA34626 6094 HGNC:10254 ENSG00000149489 retinal outer segment membrane protein 1 ROM1 ROM, TSPAN23 Yes No Comparative Toxicogenomics Database:6094, Ensembl:ENSG00000149489, GenAtlas:ROM1, GeneCard:ROM1, HGNC:HGNC:10254, HumanCyc Gene:HS07619, NCBI Gene:6094, OMIM:180721, RefSeq DNA:NG_009845, RefSeq DNA:NT_167190, RefSeq Protein:NP_000318, RefSeq RNA:NM_000327, UCSC Genome Browser:NM_000327, UniProtKB:Q03395 No chr11 62380213 62382592 62612741 62615120 +PA164725540 140823 HGNC:16185 ENSG00000125995 reactive oxygen species modulator 1 ROMO1 mitochondrial targeting GXXXG protein C20orf52, MTGMP, bA353C18.2 Yes No Ensembl:ENSG00000125995, GeneCard:ROMO1, HGNC:HGNC:16185, HumanCyc Gene:HS04984, NCBI Gene:140823, RefSeq DNA:NT_011362, RefSeq Protein:NP_542786, RefSeq RNA:NM_080748, UniProtKB:P60602 No chr20 34287232 34288902 35699310 35700982 +PA134952827 54763 HGNC:17692 ENSG00000065371 rhophilin associated tail protein 1 ROPN1 cancer/testis antigen 91 CT91, ODF6, ROPN1A, ropporin Yes No Ensembl:ENSG00000065371, GeneCard:ROPN1, HGNC:HGNC:17692, HumanCyc Gene:HS00839, ModBase:Q9HAT0, NCBI Gene:54763, OMIM:611757, RefSeq DNA:NT_005612, RefSeq Protein:NP_060048, RefSeq RNA:NM_017578, UniProtKB:Q9HAT0 No chr3 123687862 123711017 123969006 123992170 +PA142671053 152015 HGNC:31927 ENSG00000114547 rhophilin associated tail protein 1B ROPN1B Yes No Ensembl:ENSG00000114547, GeneCard:ROPN1B, HGNC:HGNC:31927, ModBase:Q9BZX4, NCBI Gene:152015, RefSeq DNA:NT_005612, RefSeq Protein:NP_001012337, RefSeq RNA:NM_001012337, UniProtKB:Q9BZX4 No chr3 125687987 125702297 125969144 125983454 +PA134956127 83853 HGNC:24060 ENSG00000145491 rhophilin associated tail protein 1 like ROPN1L AKAP-associated sperm protein, radial spoke head 11 homolog (Chlamydomonas), rhophilin associated tail protein 1-like ASP, FLJ25776, LINC01513, RP11-1C1.7, RSPH11, TCONS_00009352 Yes No Comparative Toxicogenomics Database:83853, Ensembl:ENSG00000145491, GeneCard:ROPN1L, HGNC:HGNC:24060, HumanCyc Gene:HS14095, ModBase:Q96C74, NCBI Gene:83853, OMIM:611756, RefSeq DNA:NT_006576, RefSeq Protein:NP_001188395, RefSeq Protein:NP_114122, RefSeq RNA:NM_001201466, RefSeq RNA:NM_031916, UniProtKB:Q96C74 No chr5 10441974 10465138 10441862 10482807 +PA34628 4919 HGNC:10256 ENSG00000185483 receptor tyrosine kinase like orphan receptor 1 ROR1 receptor tyrosine kinase-like orphan receptor 1 NTRKR1 Yes No Comparative Toxicogenomics Database:4919, Ensembl:ENSG00000185483, GenAtlas:ROR1, GeneCard:ROR1, HGNC:HGNC:10256, HumanCyc Gene:HS00038, ModBase:Q01973, NCBI Gene:4919, OMIM:602336, RefSeq DNA:NT_032977, RefSeq Protein:NP_001077061, RefSeq Protein:NP_005003, RefSeq RNA:NM_001083592, RefSeq RNA:NM_005012, UCSC Genome Browser:NM_005012, UniProtKB:Q01973, UniProtKB:Q66K77 No chr1 64239690 64647181 63774019 64181498 +PA34629 4920 HGNC:10257 ENSG00000169071 receptor tyrosine kinase like orphan receptor 2 ROR2 receptor tyrosine kinase-like orphan receptor 2 BDB, BDB1, NTRKR2 Yes No Comparative Toxicogenomics Database:4920, Ensembl:ENSG00000169071, GenAtlas:ROR2, GeneCard:ROR2, HGNC:HGNC:10257, HumanCyc Gene:HS09878, ModBase:Q01974, NCBI Gene:4920, OMIM:113000, OMIM:268310, OMIM:602337, RefSeq DNA:NG_008089, RefSeq DNA:NT_008470, RefSeq Protein:NP_004551, RefSeq RNA:NM_004560, UCSC Genome Browser:NM_004560, UniProtKB:Q01974 No chr9 94484878 94712444 91722596 91950206 +PA34630 6095 HGNC:10258 ENSG00000069667 RAR related orphan receptor A RORA Nuclear receptor ROR-alpha, RAR-related orphan nuclear receptor alpha, RAR-related orphan receptor A, nuclear receptor subfamily 1 group F member 1 NR1F1, ROR-alpha, ROR1, ROR2, ROR3, RORa1, RORalpha, RORα, RZRA Yes Yes Comparative Toxicogenomics Database:6095, Ensembl:ENSG00000069667, GenAtlas:RORA, GeneCard:RORA, HGNC:HGNC:10258, HumanCyc Gene:HS00967, ModBase:P35398, NCBI Gene:6095, OMIM:600825, RefSeq DNA:NT_010194, RefSeq Protein:NP_002934, RefSeq Protein:NP_599022, RefSeq Protein:NP_599023, RefSeq Protein:NP_599024, RefSeq RNA:NM_002943, RefSeq RNA:NM_134260, RefSeq RNA:NM_134261, RefSeq RNA:NM_134262, UCSC Genome Browser:NM_002943, UniProtKB:P35398, UniProtKB:Q495X4 No chr15 60780483 61521502 60488284 61229303 +PA34631 6096 HGNC:10259 ENSG00000198963 RAR related orphan receptor B RORB Nuclear receptor ROR-beta, RAR-related orphan receptor B, nuclear receptor subfamily 1 group F member 2, retinoid Z receptor beta NR1F2, ROR-BETA, RORβ, RZR-BETA, RZRB Yes No Comparative Toxicogenomics Database:6096, Ensembl:ENSG00000198963, GenAtlas:RORB, GeneCard:RORB, HGNC:HGNC:10259, NCBI Gene:6096, OMIM:601972, RefSeq DNA:NT_008470, RefSeq Protein:NP_008845, RefSeq RNA:NM_006914, UCSC Genome Browser:NM_006914, UniProtKB:Q58EY0, UniProtKB:Q92753 No chr9 77112252 77303534 74497336 74687201 +PA34632 6097 HGNC:10260 ENSG00000143365 RAR related orphan receptor C RORC Nuclear receptor ROR-gamma, RAR-related orphan receptor C NR1F3, RORG, RZRG, TOR Yes No Comparative Toxicogenomics Database:6097, Ensembl:ENSG00000143365, GenAtlas:RORC, GeneCard:RORC, HGNC:HGNC:10260, HumanCyc Gene:HS07035, ModBase:P51449, NCBI Gene:6097, OMIM:602943, RefSeq DNA:NT_004487, RefSeq Protein:NP_001001523, RefSeq Protein:NP_005051, RefSeq RNA:NM_001001523, RefSeq RNA:NM_005060, UCSC Genome Browser:NM_005060, UniProtKB:P51449, UniProtKB:Q6I9R9 No chr1 151778547 151804348 151806071 151832450 +PA34633 6098 HGNC:10261 ENSG00000047936 ROS proto-oncogene 1, receptor tyrosine kinase ROS1 """ROS proto-oncogene 1 , receptor tyrosine kinase"", ""c-ros oncogene 1 , receptor tyrosine kinase""" MCF3, ROS, c-ros-1 Yes No Comparative Toxicogenomics Database:6098, Ensembl:ENSG00000047936, GenAtlas:ROS1, GeneCard:ROS1, HGNC:HGNC:10261, HumanCyc Gene:HS00597, ModBase:P08922, NCBI Gene:6098, OMIM:165020, RefSeq DNA:NT_025741, RefSeq Protein:NP_002935, RefSeq RNA:NM_002944, UCSC Genome Browser:NM_002944, UniProtKB:P08922 No chr6 117609530 117747018 117287918 117426065 +PA34635 6101 HGNC:10263 ENSG00000104237 RP1 axonemal microtubule associated RP1 """RP1, axonemal microtubule associated"", ""doublecortin domain containing 4A"", ""oxygen-regulated protein 1"", ""retinitis pigmentosa 1 (autosomal dominant)""" DCDC4A, ORP1 Yes No Comparative Toxicogenomics Database:6101, Ensembl:ENSG00000104237, GenAtlas:RP1, GeneCard:RP1, HGNC:HGNC:10263, HumanCyc Gene:HS02557, ModBase:P56715, NCBI Gene:6101, OMIM:145750, OMIM:180100, OMIM:603937, RefSeq DNA:NG_009840, RefSeq DNA:NT_008183, RefSeq Protein:NP_006260, RefSeq RNA:NM_006269, UCSC Genome Browser:NM_006269, UniProtKB:P56715 No chr8 55528627 55682524 54509448 54630834 +PA34640 94137 HGNC:15946 ENSG00000183638 RP1 like 1 RP1L1 doublecortin domain containing 4B, retinitis pigmentosa 1-like 1 DCDC4B Yes No Ensembl:ENSG00000183638, GenAtlas:RP1L1, GeneCard:RP1L1, HGNC:HGNC:15946, ModBase:Q8IWN7, NCBI Gene:94137, OMIM:608581, RefSeq DNA:NT_077531, RefSeq Protein:NP_849188, RefSeq RNA:NM_178857, UCSC Genome Browser:NM_178857, UniProtKB:A6NKC6 No chr8 10463859 10512617 10606349 10655107 +PA34641 6102 HGNC:10274 ENSG00000102218 RP2 activator of ARL3 GTPase RP2 """RP2, ARL3 GTPase activating protein"", ""retinitis pigmentosa 2 (X-linked recessive)""" NM23-H10, NME10, TBCCD2 Yes No Comparative Toxicogenomics Database:6102, Ensembl:ENSG00000102218, GenAtlas:RP2, GeneCard:RP2, HGNC:HGNC:10274, HumanCyc Gene:HS02367, ModBase:O75695, NCBI Gene:6102, OMIM:300578, OMIM:300757, OMIM:312600, RefSeq DNA:NG_009107, RefSeq DNA:NT_079573, RefSeq Protein:NP_008846, RefSeq RNA:NM_006915, UCSC Genome Browser:NM_006915, UniProtKB:O75695 No chrX 46696347 46741793 46836912 46882358 +PA34650 6100 HGNC:10288 ENSG00000164610 RP9 pre-mRNA splicing factor RP9 """Pim-1 kinase associated protein"", ""RP9, pre-mRNA splicing factor"", ""retinitis pigmentosa 9 (autosomal dominant)""" PAP-1 Yes No Comparative Toxicogenomics Database:6100, Ensembl:ENSG00000164610, GenAtlas:RP9, GeneCard:RP9, HGNC:HGNC:10288, ModBase:Q8TA86, NCBI Gene:6100, OMIM:180104, OMIM:607331, RefSeq DNA:NG_012968, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_976033, RefSeq RNA:NM_203288, UniProtKB:Q8TA86 No chr7 33134409 33149002 33094797 33109390 +PA34651 6117 HGNC:10289 ENSG00000132383 replication protein A1 RPA1 replication protein A1, 70kDa HSSB, REPA1, RF-A, RP-A, RPA70 Yes No Comparative Toxicogenomics Database:6117, Ensembl:ENSG00000132383, GenAtlas:RPA1, GeneCard:RPA1, HGNC:HGNC:10289, HumanCyc Gene:HS05628, ModBase:P27694, NCBI Gene:6117, OMIM:179835, RefSeq DNA:NT_010718, RefSeq Protein:NP_002936, RefSeq RNA:NM_002945, UCSC Genome Browser:NM_002945, UniProtKB:P27694 No chr17 +PA34652 6118 HGNC:10290 ENSG00000117748 replication protein A2 RPA2 replication protein A2, 32kDa Yes No Comparative Toxicogenomics Database:6118, Ensembl:ENSG00000117748, GenAtlas:RPA2, GeneCard:RPA2, HGNC:HGNC:10290, HumanCyc Gene:HS04171, ModBase:P15927, NCBI Gene:6118, OMIM:179836, RefSeq DNA:NT_004610, RefSeq Protein:NP_002937, RefSeq RNA:NM_002946, UCSC Genome Browser:NM_002946, UniProtKB:P15927 No chr1 28218035 28241255 27891524 27914797 +PA134899623 326628 HGNC:19676 ENSG00000258392 replication protein A2 pseudogene 1 RPA2P1 Yes No Ensembl:ENSG00000258392, GeneCard:RPA2P, HGNC:HGNC:19676, NCBI Gene:326628, RefSeq DNA:NG_002610, RefSeq DNA:NT_026437 No chr14 47465582 47467008 46996379 46997805 +PA34653 6119 HGNC:10291 ENSG00000106399 replication protein A3 RPA3 replication protein A3, 14kDa REPA3 Yes No Comparative Toxicogenomics Database:6119, Ensembl:ENSG00000106399, GenAtlas:RPA3, GeneCard:RPA3, HGNC:HGNC:10291, HumanCyc Gene:HS02903, NCBI Gene:6119, OMIM:179837, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_002938, RefSeq RNA:NM_002947, UCSC Genome Browser:NM_002947, UniProtKB:A4D105, UniProtKB:P35244 No chr7 7676347 7758238 7636563 7718607 +PA134988548 29935 HGNC:30305 ENSG00000204086 replication protein A4 RPA4 replication protein A4, 30kDa HSU24186 Yes No Ensembl:ENSG00000204086, GeneCard:RPA4, HGNC:HGNC:30305, ModBase:Q13156, NCBI Gene:29935, OMIM:300767, RefSeq DNA:NG_013259, RefSeq DNA:NT_011651, RefSeq Protein:NP_037479, RefSeq RNA:NM_013347, UniProtKB:Q13156 No chrX 96138907 96140466 96883908 96885467 +PA145007849 84268 HGNC:28641 ENSG00000129197 RPA interacting protein RPAIN MGC4189, RIP, hRIP Yes No Comparative Toxicogenomics Database:84268, Ensembl:ENSG00000129197, GeneCard:RPAIN, HGNC:HGNC:28641, HumanCyc Gene:HS13295, ModBase:Q6B4W4, NCBI Gene:84268, RefSeq DNA:NT_010718, RefSeq Protein:NP_001028174, RefSeq Protein:NP_001153715, RefSeq Protein:NP_001153716, RefSeq Protein:NP_001153718, RefSeq Protein:NP_001153738, RefSeq Protein:NP_001153739, RefSeq RNA:NM_001033002, RefSeq RNA:NM_001160243, RefSeq RNA:NM_001160244, RefSeq RNA:NM_001160246, RefSeq RNA:NM_001160266, RefSeq RNA:NM_001160267, RefSeq RNA:NR_027678, RefSeq RNA:NR_027679, RefSeq RNA:NR_027680, RefSeq RNA:NR_027681, RefSeq RNA:NR_027682, RefSeq RNA:NR_027683, RefSeq RNA:NR_027684, RefSeq RNA:NR_027685, UniProtKB:B3KTT3, UniProtKB:B4DI36, UniProtKB:Q86UA6 No chr17 5322961 5336340 5419185 5433020 +PA134914340 26015 HGNC:24567 ENSG00000103932 RNA polymerase II associated protein 1 RPAP1 DKFZP727M111, FLJ12732, KIAA1403, MGC858 Yes No Ensembl:ENSG00000103932, GeneCard:RPAP1, HGNC:HGNC:24567, HumanCyc Gene:HS12535, NCBI Gene:26015, OMIM:611475, RefSeq DNA:NT_010194, RefSeq Protein:NP_056355, RefSeq RNA:NM_015540, UniProtKB:Q9BWH6 No chr15 41809374 41836464 41517176 41544277 +PA162401981 79871 HGNC:25791 ENSG00000122484 RNA polymerase II associated protein 2 RPAP2 C1orf82, FLJ13150, Rtr1 Yes No Ensembl:ENSG00000122484, GeneCard:RPAP2, HGNC:HGNC:25791, HumanCyc Gene:HS13056, NCBI Gene:79871, OMIM:611476, RefSeq DNA:NT_032977, RefSeq Protein:NP_079089, RefSeq RNA:NM_024813, UniProtKB:Q8IXW5 No chr1 92764522 92853732 92298965 92388175 +PA162401982 79657 HGNC:26151 ENSG00000005175 RNA polymerase II associated protein 3 RPAP3 FLJ21908, Tah1, hSpagh, spag Yes No Ensembl:ENSG00000005175, GeneCard:RPAP3, HGNC:HGNC:26151, HumanCyc Gene:HS12002, ModBase:Q9H6T3, NCBI Gene:79657, OMIM:611477, RefSeq DNA:NT_029419, RefSeq Protein:NP_001139547, RefSeq Protein:NP_001139548, RefSeq Protein:NP_078880, RefSeq RNA:NM_001146075, RefSeq RNA:NM_001146076, RefSeq RNA:NM_024604, UniProtKB:B4DRW9, UniProtKB:Q9H6T3 No chr12 48055715 48099844 47661932 47706061 +PA34654 6120 HGNC:10293 ENSG00000197713 ribulose-5-phosphate-3-epimerase RPE Yes Yes Comparative Toxicogenomics Database:6120, Ensembl:ENSG00000197713, GenAtlas:RPE, GeneCard:RPE, HGNC:HGNC:10293, HumanCyc Gene:HS04202, ModBase:Q96AT9, NCBI Gene:6120, OMIM:180480, RefSeq DNA:NT_005403, RefSeq Protein:NP_008847, RefSeq Protein:NP_954699, RefSeq RNA:NM_006916, RefSeq RNA:NM_199229, UCSC Genome Browser:NM_006916, UniProtKB:Q53TV9, UniProtKB:Q96AT9 No chr2 210867289 210889784 210002565 210029156 +PA34655 6121 HGNC:10294 ENSG00000116745 retinoid isomerohydrolase RPE65 RPE65 """BCO family, member 3"", ""RPE65, retinoid isomerohydrolase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinal pigment epithelium-specific protein 65kDa"", ""retinoid isomerohydrolase"", ""retinol isomerase""" BCO3, LCA2, RP20, rd12 Yes No Comparative Toxicogenomics Database:6121, Ensembl:ENSG00000116745, GenAtlas:RPE65, GeneCard:RPE65, HGNC:HGNC:10294, HumanCyc Gene:HS04044, ModBase:Q16518, NCBI Gene:6121, OMIM:180069, OMIM:204100, RefSeq DNA:NG_008472, RefSeq DNA:NT_032977, RefSeq Protein:NP_000320, RefSeq RNA:NM_000329, UCSC Genome Browser:NM_000329, UniProtKB:Q16518 No chr1 68894507 68915642 68428822 68450322 +PA166123732 729020 HGNC:45241 ENSG00000235376 ribulose-5-phosphate-3-epimerase like 1 RPEL1 ribulose-5-phosphate-3-epimerase-like 1 Yes No Ensembl:ENSG00000235376, HGNC:HGNC:45241, NCBI Gene:729020 No +PA165752348 80135 HGNC:30350 ENSG00000117133 ribosome production factor 1 homolog RPF1 RNA processing factor 1, ribosome production factor 1, ribosome production factor 1 homolog (S. cerevisiae) BXDC5 Yes No Comparative Toxicogenomics Database:80135, Ensembl:ENSG00000117133, GeneCard:RPF1, HGNC:HGNC:30350, HumanCyc Gene:HS12890, ModBase:Q9H9Y2, NCBI Gene:80135, RefSeq DNA:NT_032977, RefSeq Protein:NP_079341, RefSeq RNA:NM_025065, UniProtKB:Q9H9Y2 No chr1 84944920 84964033 84479237 84498350 +PA165618192 84154 HGNC:20870 ENSG00000197498 ribosome production factor 2 homolog RPF2 ribosomal processing factor 2 homolog (S. cerevisiae), ribosome production factor 2 homolog (S. cerevisiae) BXDC1, FLJ21087, bA397G5.4 Yes No Ensembl:ENSG00000197498, GeneCard:RPF2, HGNC:HGNC:20870, ModBase:Q9H7B2, NCBI Gene:84154, RefSeq DNA:NT_025741, RefSeq Protein:NP_115570, RefSeq RNA:NM_032194, UniProtKB:Q9H7B2 No chr6 111303274 111347299 110982017 111028263 +PA25763 729608 HGNC:16186 ENSG00000225357 ribosome production factor 2 homolog (S. cerevisiae) pseudogene 1 RPF2P1 bA353C18.4 Yes No Ensembl:ENSG00000225357, GenAtlas:BXDC1P, GeneCard:RPF2P1, HGNC:HGNC:16186, NCBI Gene:729608, RefSeq DNA:NG_009525, RefSeq DNA:NT_028392, RefSeq Protein:XP_001126871, RefSeq Protein:XP_001130778, RefSeq Protein:XP_001714774, RefSeq RNA:XM_001126871, RefSeq RNA:XM_001130778, RefSeq RNA:XM_001714722, UCSC Genome Browser:NM_178472 No chr20 34340717 34341659 35752781 35753737 +PA34656 6103 HGNC:10295 ENSG00000156313 retinitis pigmentosa GTPase regulator RPGR COD1, CORDX1, CRD, RP15, RP3 Yes No Comparative Toxicogenomics Database:6103, Ensembl:ENSG00000156313, GenAtlas:RPGR, GeneCard:RPGR, HGNC:HGNC:10295, HumanCyc Gene:HS08119, ModBase:Q92834, NCBI Gene:6103, OMIM:300029, OMIM:300455, OMIM:304020, OMIM:312610, RefSeq DNA:NG_009553, RefSeq DNA:NT_079573, RefSeq Protein:NP_000319, RefSeq Protein:NP_001030025, RefSeq RNA:NM_000328, RefSeq RNA:NM_001034853, UCSC Genome Browser:NM_000328, UniProtKB:Q3KN84, UniProtKB:Q92834 No chrX 38128423 38186817 38269163 38327564 +PA34657 57096 HGNC:13436 ENSG00000092200 RPGR interacting protein 1 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 CORD13, LCA6, RGI1, RPGRIP Yes No Comparative Toxicogenomics Database:57096, Ensembl:ENSG00000092200, GenAtlas:RPGRIP1, GeneCard:RPGRIP1, HGNC:HGNC:13436, HumanCyc Gene:HS12345, ModBase:Q96KN7, NCBI Gene:57096, OMIM:605446, OMIM:608194, RefSeq DNA:NG_008933, RefSeq DNA:NT_026437, RefSeq Protein:NP_065099, RefSeq RNA:NM_020366, UCSC Genome Browser:NM_020366, UniProtKB:Q96KN7 No chr14 21756136 21819460 21287977 21351316 +PA162401983 23322 HGNC:29168 ENSG00000103494 RPGRIP1 like RPGRIP1L """Meckel syndrome, type 5"", ""RPGRIP1-like"", ""fantom homolog"", ""protein phosphatase 1, regulatory subunit 134""" CORS3, FTM, JBTS7, KIAA1005, MKS5, NPHP8, PPP1R134 Yes No Ensembl:ENSG00000103494, GeneCard:RPGRIP1L, HGNC:HGNC:29168, ModBase:Q68CZ1, NCBI Gene:23322, OMIM:216360, OMIM:610937, OMIM:611560, OMIM:611561, RefSeq DNA:NG_008991, RefSeq DNA:NT_010498, RefSeq Protein:NP_001121369, RefSeq Protein:NP_056087, RefSeq RNA:NM_001127897, RefSeq RNA:NM_015272, UniProtKB:Q68CZ1 No chr16 53633818 53737771 53599239 53703934 +PA134886118 22895 HGNC:17056 ENSG00000089169 rabphilin 3A RPH3A rabphilin 3A homolog (mouse) KIAA0985, exophilin-1, rabphilin Yes No Comparative Toxicogenomics Database:22895, Ensembl:ENSG00000089169, GeneCard:RPH3A, HGNC:HGNC:17056, HumanCyc Gene:HS01641, ModBase:Q9Y2J0, NCBI Gene:22895, OMIM:612159, RefSeq DNA:NT_009775, RefSeq Protein:NP_001137326, RefSeq Protein:NP_055769, RefSeq RNA:NM_001143854, RefSeq RNA:NM_014954, UniProtKB:Q9Y2J0 No chr12 113229343 113336686 112791538 112898881 +PA34658 9501 HGNC:10296 ENSG00000181031 rabphilin 3A like (without C2 domains) RPH3AL No C2 domains protein, rabphilin 3A-like (without C2 domains) Noc2 Yes No Comparative Toxicogenomics Database:9501, Ensembl:ENSG00000181031, GenAtlas:RPH3AL, GeneCard:RPH3AL, HGNC:HGNC:10296, HumanCyc Gene:HS11569, ModBase:Q9UNE2, NCBI Gene:9501, OMIM:604881, RefSeq DNA:NG_023031, RefSeq DNA:NT_024972, RefSeq Protein:NP_001177340, RefSeq Protein:NP_001177341, RefSeq Protein:NP_001177342, RefSeq Protein:NP_008918, RefSeq RNA:NM_001190411, RefSeq RNA:NM_001190412, RefSeq RNA:NM_001190413, RefSeq RNA:NM_006987, UCSC Genome Browser:NM_006987, UniProtKB:Q9UNE2 No chr17 62180 202633 212389 386254 +PA34659 22934 HGNC:10297 ENSG00000153574 ribose 5-phosphate isomerase A RPIA ribose 5-phosphate epimerase Yes No Comparative Toxicogenomics Database:22934, Ensembl:ENSG00000153574, GenAtlas:RPIA, GeneCard:RPIA, HGNC:HGNC:10297, HumanCyc Gene:HS07914, ModBase:P49247, NCBI Gene:22934, OMIM:180430, OMIM:608611, RefSeq DNA:NG_016710, RefSeq DNA:NT_022184, RefSeq Protein:NP_653164, RefSeq RNA:NM_144563, UCSC Genome Browser:NM_144563, UniProtKB:P49247 No chr2 88991176 89050452 88691658 88750935 +PA142671052 619449 HGNC:27250 ENSG00000267597 ribose 5-phosphate isomerase A pseudogene 1 RPIAP1 Yes No Ensembl:ENSG00000267597, GeneCard:RPIAP1, HGNC:HGNC:27250, NCBI Gene:619449, RefSeq DNA:NG_023037 No chr18 59624327 59624786 61957094 61957553 +PA34660 6134 HGNC:10298 ENSG00000147403 ribosomal protein L10 RPL10 DXS648, DXS648E, FLJ23544, L10, NOV, QM, uL16 Yes No Comparative Toxicogenomics Database:6134, Ensembl:ENSG00000147403, GenAtlas:RPL10, GeneCard:RPL10, HGNC:HGNC:10298, HumanCyc Gene:HS07427, ModBase:P27635, NCBI Gene:6134, OMIM:312173, RefSeq DNA:NG_012890, RefSeq DNA:NT_167198, RefSeq Protein:NP_006004, RefSeq RNA:NM_006013, RefSeq RNA:NR_026898, UCSC Genome Browser:NM_006013, UniProtKB:P27635 No chrX 153626571 153630901 154398065 154402339 +PA34661 4736 HGNC:10299 ENSG00000198755 ribosomal protein L10a RPL10A Csa-19, L10A, NEDD6, uL1 Yes No Comparative Toxicogenomics Database:4736, Ensembl:ENSG00000198755, GenAtlas:RPL10A, GeneCard:RPL10A, HGNC:HGNC:10299, ModBase:P62906, NCBI Gene:4736, RefSeq DNA:NT_007592, RefSeq Protein:NP_009035, RefSeq RNA:NM_007104, UCSC Genome Browser:NM_007104, UniProtKB:P62906 No chr6 35436178 35438558 35468401 35470781 +PA134905446 319135 HGNC:19813 ENSG00000244691 ribosomal protein L10a pseudogene 1 RPL10AP1 Yes No Ensembl:ENSG00000244691, GeneCard:RPL10AP1, HGNC:HGNC:19813, NCBI Gene:319135, RefSeq DNA:NG_002513, RefSeq DNA:NT_026437 No chr14 103878424 103879129 103412087 103412792 +PA134952160 253986 HGNC:31081 ENSG00000188873 ribosomal protein L10a pseudogene 2 RPL10AP2 Yes No Ensembl:ENSG00000188873, GeneCard:RPL10AP2, HGNC:HGNC:31081, NCBI Gene:253986, RefSeq DNA:NG_005655, RefSeq DNA:NT_023678 No chr8 48068710 48069425 47157087 47157802 +PA142671029 137107 HGNC:29803 ENSG00000215264 ribosomal protein L10a pseudogene 3 RPL10AP3 HsT23218 Yes No Ensembl:ENSG00000215264, GeneCard:RPL10AP3, HGNC:HGNC:29803, NCBI Gene:137107, RefSeq DNA:NG_009498, RefSeq DNA:NT_167187 No chr8 34180478 34181193 34322960 34323675 +PA34662 140801 HGNC:17976 ENSG00000165496 ribosomal protein L10 like RPL10L ribosomal protein L10-like Yes No Ensembl:ENSG00000165496, GenAtlas:RPL10L, GeneCard:RPL10L, HGNC:HGNC:17976, HumanCyc Gene:HS09241, ModBase:Q96L21, NCBI Gene:140801, RefSeq DNA:NT_026437, RefSeq Protein:NP_542784, RefSeq RNA:NM_080746, UCSC Genome Browser:NM_080746, UniProtKB:Q96L21 No chr14 47120213 47121041 46651013 46651825 +PA34663 54030 HGNC:10300 ENSG00000217026 ribosomal protein L10 pseudogene 1 RPL10P1 Yes No Ensembl:ENSG00000217026, GenAtlas:RPL10P1, GeneCard:RPL10P1, HGNC:HGNC:10300, NCBI Gene:54030, RefSeq DNA:NG_000911, RefSeq DNA:NT_011512 No chr21 +PA134932608 442171 HGNC:13975 ENSG00000174572 ribosomal protein L10 pseudogene 2 RPL10P2 RPL10p, bA209A2.1 Yes No Ensembl:ENSG00000174572, GeneCard:RPL10P2, HGNC:HGNC:13975, NCBI Gene:442171, RefSeq DNA:NG_009499, RefSeq DNA:NT_007592 No chr6 27179023 27179663 27211221 27211941 +PA142671030 619445 HGNC:23300 ENSG00000230734 ribosomal protein L10 pseudogene 3 RPL10P3 bA567J2.2 Yes No Ensembl:ENSG00000230734, GeneCard:RPL10P3, HGNC:HGNC:23300, NCBI Gene:619445, RefSeq DNA:NG_009502, RefSeq DNA:NT_008470 No chr9 119942907 119943374 117180644 117181010 +PA34664 6135 HGNC:10301 ENSG00000142676 ribosomal protein L11 RPL11 60S ribosomal protein L11 L11, uL5 Yes No Comparative Toxicogenomics Database:6135, Ensembl:ENSG00000142676, GenAtlas:RPL11, GeneCard:RPL11, HGNC:HGNC:10301, HumanCyc Gene:HS06952, ModBase:P62913, NCBI Gene:6135, OMIM:604175, OMIM:612562, RefSeq DNA:NG_011741, RefSeq DNA:NT_004610, RefSeq Protein:NP_000966, RefSeq Protein:NP_001186731, RefSeq RNA:NM_000975, RefSeq RNA:NM_001199802, UCSC Genome Browser:NM_000975, UniProtKB:P62913, UniProtKB:Q5VVD0 No chr1 24018269 24022915 23691779 23696425 +PA34665 6136 HGNC:10302 ENSG00000197958 ribosomal protein L12 RPL12 L12, uL11 Yes No Comparative Toxicogenomics Database:6136, Ensembl:ENSG00000197958, GenAtlas:RPL12, GeneCard:RPL12, HGNC:HGNC:10302, ModBase:P30050, NCBI Gene:6136, OMIM:180475, RefSeq DNA:NT_008470, RefSeq Protein:NP_000967, RefSeq RNA:NM_000976, UCSC Genome Browser:NM_000976, UniProtKB:P30050 No chr9 130209953 130213711 127447674 127451432 +PA134916379 729727 HGNC:13976 ENSG00000204194 ribosomal protein L12 pseudogene 1 RPL12P1 CICK0721Q.1, RPL12-L, dJ570F3.5 Yes No Ensembl:ENSG00000204194, GeneCard:RPL12P1, HGNC:HGNC:13976, NCBI Gene:729727, RefSeq DNA:NG_006554, RefSeq DNA:NT_007592, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 33367792 33368421 33400015 33400644 +PA142671033 392872 HGNC:22583 ENSG00000226279 ribosomal protein L12 pseudogene 10 RPL12P10 TCAG_1783340 Yes No Ensembl:ENSG00000226279, GeneCard:RPL12P10, HGNC:HGNC:22583, NCBI Gene:392872, RefSeq DNA:NG_005576, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 22921440 22922051 22881821 22882432 +PA34666 128467 HGNC:15835 ENSG00000232493 ribosomal protein L12 pseudogene 11 RPL12P11 dJ661I20.1 Yes No Ensembl:ENSG00000232493, GenAtlas:RPL12L2, GeneCard:RPL12P11, HGNC:HGNC:15835, NCBI Gene:128467, RefSeq DNA:NG_000964, RefSeq DNA:NT_011362, UCSC Genome Browser:NM_080568 No chr20 40175974 40176605 41547335 41547966 +PA34667 85824 HGNC:15951 ENSG00000236992 ribosomal protein L12 pseudogene 12 RPL12P12 dJ999L4.1 Yes No Ensembl:ENSG00000236992, GenAtlas:RPL12L3, GeneCard:RPL12P12, HGNC:HGNC:15951, NCBI Gene:85824, RefSeq DNA:NG_000945, RefSeq DNA:NT_011387, UCSC Genome Browser:NM_080565 No chr20 19804051 19804675 19823407 19824031 +PA134883768 646875 HGNC:16070 ENSG00000216412 ribosomal protein L12 pseudogene 2 RPL12P2 dJ441G21.1 Yes No Ensembl:ENSG00000216412, GeneCard:RPL12P2, HGNC:HGNC:16070, NCBI Gene:646875, RefSeq DNA:NG_009503, RefSeq DNA:NT_007592 No chr6 37058997 37059621 37091221 37091845 +PA34668 128862 HGNC:16335 ENSG00000233106 ribosomal protein L12 pseudogene 3 RPL12P3 bA49G10.7 Yes No Ensembl:ENSG00000233106, GenAtlas:RPL12P3, GeneCard:RPL12P3, HGNC:HGNC:16335, NCBI Gene:128862, RefSeq DNA:NG_000978, RefSeq DNA:NT_011362 No chr20 31860068 31860463 33272262 33272657 +PA34669 116149 HGNC:16587 ENSG00000185834 ribosomal protein L12 pseudogene 4 RPL12P4 dJ800C24.1 Yes No Ensembl:ENSG00000185834, GenAtlas:RPL12P4, GeneCard:RPL12P4, HGNC:HGNC:16587, NCBI Gene:116149, RefSeq DNA:NG_000962, RefSeq DNA:NT_011362 No chr20 53691095 53691717 55074556 55075178 +PA134936983 319142 HGNC:19669 ENSG00000243855 ribosomal protein L12 pseudogene 5 RPL12P5 Yes No Ensembl:ENSG00000243855, GeneCard:RPL12P5, HGNC:HGNC:19669, NCBI Gene:319142, RefSeq DNA:NG_002518, RefSeq DNA:NT_026437 No chr14 31260304 31260695 30791098 30791489 +PA142671031 440176 HGNC:23538 ENSG00000243824 ribosomal protein L12 pseudogene 6 RPL12P6 Yes No Ensembl:ENSG00000243824, GeneCard:RPL12P6, HGNC:HGNC:23538, NCBI Gene:440176, RefSeq DNA:NG_009696, RefSeq DNA:NT_026437 No chr14 35209497 35210110 34740291 34740904 +PA134984055 326275 HGNC:19782 ENSG00000242941 ribosomal protein L12 pseudogene 7 RPL12P7 Yes No Ensembl:ENSG00000242941, GeneCard:RPL12P7, HGNC:HGNC:19782, NCBI Gene:326275, RefSeq DNA:NG_002535, RefSeq DNA:NT_026437 No chr14 69159788 69160343 68693071 68693626 +PA134991264 645161 HGNC:23735 ENSG00000219932 ribosomal protein L12 pseudogene 8 RPL12P8 bA57G10.3 Yes No Ensembl:ENSG00000219932, GeneCard:RPL12P8, HGNC:HGNC:23735, NCBI Gene:645161, RefSeq DNA:NG_006101, RefSeq DNA:NT_030059 No chr10 69634090 69634649 67874332 67874891 +PA142671032 654376 HGNC:23766 ENSG00000232687 ribosomal protein L12 pseudogene 9 RPL12P9 Yes No Ensembl:ENSG00000232687, GeneCard:RPL12P9, HGNC:HGNC:23766, NCBI Gene:654376, RefSeq DNA:NG_009547, RefSeq DNA:NT_011512 No chr21 30499970 30500596 29127649 29128275 +PA34670 6137 HGNC:10303 ENSG00000167526 ribosomal protein L13 RPL13 breast basic conserved 1 BBC1, D16S444E, L13, eL13 Yes Yes Comparative Toxicogenomics Database:6137, Ensembl:ENSG00000167526, GenAtlas:RPL13, GeneCard:RPL13, HGNC:HGNC:10303, HumanCyc Gene:HS09569, NCBI Gene:6137, OMIM:113703, RefSeq DNA:NT_010542, RefSeq Protein:NP_000968, RefSeq Protein:NP_150254, RefSeq RNA:NM_000977, RefSeq RNA:NM_033251, UCSC Genome Browser:NM_000977, UniProtKB:A8K4C8, UniProtKB:P26373 No chr16 89613324 89633237 89560657 89566829 +PA38122 23521 HGNC:10304 ENSG00000142541 ribosomal protein L13a RPL13A L13A, TSTA1, uL13 Yes No Comparative Toxicogenomics Database:23521, Ensembl:ENSG00000142541, GenAtlas:RPL13A, GenAtlas:TSTA1, GeneCard:RPL13A, GeneCard:TSTA1, HGNC:HGNC:10304, HumanCyc Gene:HS06935, ModBase:P40429, NCBI Gene:23521, RefSeq DNA:NT_011109, RefSeq Protein:NP_036555, RefSeq RNA:NM_012423, UCSC Genome Browser:NM_012423, UniProtKB:P40429 No chr19 49990811 49995565 49487554 49492308 +PA134886117 387043 HGNC:13977 ENSG00000231301 ribosomal protein L13a pseudogene RPL13AP RPL13Ap, dJ271M21.3 Yes No Ensembl:ENSG00000231301, GeneCard:RPL13AP, HGNC:HGNC:13977, NCBI Gene:387043, RefSeq DNA:NG_011172, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248 No chr6 29550285 29550802 29582508 29583025 +PA134950813 326278 HGNC:19675 ENSG00000244053 ribosomal protein L13a pseudogene 2 RPL13AP2 Yes No Ensembl:ENSG00000244053, GeneCard:RPL13AP2, HGNC:HGNC:19675, NCBI Gene:326278, RefSeq DNA:NG_002538, RefSeq DNA:NT_026437 No chr14 47669752 47670324 47200549 47201121 +PA142671034 645683 HGNC:23539 ENSG00000177350 ribosomal protein L13a pseudogene 3 RPL13AP3 Yes No Ensembl:ENSG00000177350, GeneCard:RPL13AP3, HGNC:HGNC:23539, NCBI Gene:645683, RefSeq DNA:NT_026437, RefSeq RNA:NR_004844 No chr14 56232963 56234435 55766245 55767717 +PA134990691 728658 HGNC:23736 ENSG00000236552 ribosomal protein L13a pseudogene 5 RPL13AP5 bA196N24.2 Yes No Ensembl:ENSG00000236552, GeneCard:RPL13AP5, HGNC:HGNC:23736, NCBI Gene:728658, RefSeq DNA:NT_030059, RefSeq RNA:NR_026712 No chr10 98510023 98510680 96750266 96750923 +PA134982184 644511 HGNC:23737 ENSG00000234118 ribosomal protein L13a pseudogene 6 RPL13AP6 bA348N5.5 Yes No Ensembl:ENSG00000234118, GeneCard:RPL13AP6, HGNC:HGNC:23737, NCBI Gene:644511, RefSeq DNA:NT_030059, RefSeq RNA:NR_026715 No chr10 112696361 112697013 110936603 110937255 +PA134920027 284821 HGNC:23755 ENSG00000213885 ribosomal protein L13a pseudogene 7 RPL13AP7 Yes No Ensembl:ENSG00000213885, GeneCard:RPL13AP7, HGNC:HGNC:23755, NCBI Gene:284821, RefSeq DNA:NG_009777, RefSeq DNA:NT_011512 No chr21 26734109 26735238 25361795 25362924 +PA134902930 387044 HGNC:13978 ENSG00000213916 ribosomal protein L13 pseudogene RPL13P BBC1p, dJ111M5.1 Yes No Ensembl:ENSG00000213916, GeneCard:RPL13P, HGNC:HGNC:13978, NCBI Gene:387044, RefSeq DNA:NG_009510, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 28829177 28829793 28861400 28862016 +PA34672 128500 HGNC:16342 ENSG00000213820 ribosomal protein L13 pseudogene 2 RPL13P2 dJ599F21.2 Yes No Ensembl:ENSG00000213820, GenAtlas:RPL13P2, GeneCard:RPL13P2, HGNC:HGNC:16342, NCBI Gene:128500, RefSeq DNA:NG_000966, RefSeq DNA:NT_011362 No chr20 44728114 44728832 46099475 46100193 +PA142671036 654383 HGNC:31027 ENSG00000241890 ribosomal protein L13 pseudogene 4 RPL13P4 HsT16723 Yes No Ensembl:ENSG00000241890, GeneCard:RPL13P4, HGNC:HGNC:31027, NCBI Gene:654383, RefSeq DNA:NG_009554, RefSeq DNA:NT_010194 No chr15 75680577 75681217 75388236 75388876 +PA142671035 283345 HGNC:30363 ribosomal protein L13-like RPL13P5 Yes No HGNC:HGNC:30363, NCBI Gene:283345 No chr12 6993145 6993778 6883981 6884614 +PA34673 9045 HGNC:10305 ENSG00000188846 ribosomal protein L14 RPL14 60S ribosomal protein L14, CAG-ISL 7 CTG-B33, L14, RL14, eL14, hRL14 Yes No Comparative Toxicogenomics Database:9045, Ensembl:ENSG00000188846, GenAtlas:RPL14, GeneCard:RPL14, HGNC:HGNC:10305, HumanCyc Gene:HS06600, ModBase:P50914, NCBI Gene:9045, RefSeq DNA:NT_022517, RefSeq Protein:NP_001030168, RefSeq Protein:NP_003964, RefSeq RNA:NM_001034996, RefSeq RNA:NM_003973, UCSC Genome Browser:NM_003973, UniProtKB:P50914 No chr3 40498783 40503863 40457292 40462372 +PA134964448 144581 HGNC:31384 ENSG00000139239 ribosomal protein L14 pseudogene 1 RPL14P1 60S ribosomal protein L14 bcm1298 Yes No Ensembl:ENSG00000139239, HGNC:HGNC:31384, NCBI Gene:144581, RefSeq DNA:NT_029419, RefSeq RNA:XR_000902, RefSeq RNA:XR_000903, RefSeq RNA:XR_000904 No chr12 63359082 63359804 62965302 62966024 +PA34674 6138 HGNC:10306 ENSG00000174748 ribosomal protein L15 RPL15 EC45, L15, RPL10, RPLY10, RPYL10, eL15 Yes No Comparative Toxicogenomics Database:6138, Ensembl:ENSG00000174748, GenAtlas:RPL15, GeneCard:RPL15, HGNC:HGNC:10306, HumanCyc Gene:HS07307, HumanCyc Gene:HS10827, ModBase:P61313, NCBI Gene:6138, OMIM:604174, RefSeq DNA:NT_022517, RefSeq Protein:NP_002939, RefSeq RNA:NM_002948, UCSC Genome Browser:NM_002948, UniProtKB:P61313, UniProtKB:Q5U0C0 No chr3 23958295 23965187 23916804 23923696 +PA34675 128756 HGNC:16583 ENSG00000227343 ribosomal protein L15 pseudogene 1 RPL15P1 dJ726N1.3 Yes No Ensembl:ENSG00000227343, GenAtlas:RPL15P1, GeneCard:RPL15P1, HGNC:HGNC:16583, NCBI Gene:128756, RefSeq DNA:NG_000975, RefSeq DNA:NT_011387 No chr20 18070703 18071395 18090059 18090751 +PA134881953 326279 HGNC:19803 ENSG00000240914 ribosomal protein L15 pseudogene 2 RPL15P2 Yes No Ensembl:ENSG00000240914, GeneCard:RPL15P2, HGNC:HGNC:19803, NCBI Gene:326279, RefSeq DNA:NG_002539, RefSeq DNA:NT_026437 No chr14 95265756 95267856 94799419 94801519 +PA134931937 653232 HGNC:21538 ENSG00000212802 ribosomal protein L15 pseudogene 3 RPL15P3 bA511S14.1 Yes No Ensembl:ENSG00000212802, GeneCard:RPL15P3, HGNC:HGNC:21538, NCBI Gene:653232, RefSeq DNA:NG_008796, RefSeq DNA:NT_007592 No chr6 12514306 12515007 12514074 12514775 +PA134880951 100129921 HGNC:21663 ENSG00000225499 ribosomal protein L15 pseudogene 4 RPL15P4 Em:AC006046.2 Yes No Ensembl:ENSG00000225499, GeneCard:RPL15P4, HGNC:HGNC:21663, NCBI Gene:100129921, RefSeq DNA:NG_009512, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 31495853 31496498 31528076 31528721 +PA34676 6139 HGNC:10307 ENSG00000265681 ribosomal protein L17 RPL17 L17, rpL23, uL22 Yes No Comparative Toxicogenomics Database:6139, Ensembl:ENSG00000265681, GenAtlas:RPL17, GeneCard:RPL17, HGNC:HGNC:10307, HumanCyc Gene:HS06856, ModBase:P18621, NCBI Gene:6139, OMIM:603661, RefSeq DNA:NT_010966, RefSeq Protein:NP_000976, RefSeq Protein:NP_001030178, RefSeq Protein:NP_001186269, RefSeq Protein:NP_001186270, RefSeq Protein:NP_001186271, RefSeq Protein:NP_001186272, RefSeq Protein:NP_001186273, RefSeq Protein:NP_001186274, RefSeq RNA:NM_000985, RefSeq RNA:NM_001035006, RefSeq RNA:NM_001199340, RefSeq RNA:NM_001199341, RefSeq RNA:NM_001199342, RefSeq RNA:NM_001199343, RefSeq RNA:NM_001199344, RefSeq RNA:NM_001199345, UCSC Genome Browser:NM_000985, UniProtKB:P18621 No chr18 47014851 47018935 49488481 49492565 +PA34678 140748 HGNC:16559 ENSG00000229500 ribosomal protein L17 pseudogene 1 RPL17P1 dJ1178H5.1 Yes No Ensembl:ENSG00000229500, GenAtlas:RPL17P1, GeneCard:RPL17P1, HGNC:HGNC:16559, NCBI Gene:140748, RefSeq DNA:NG_000991, RefSeq DNA:NT_011387 No chr20 20233947 20234482 20253303 20253838 +PA142671017 652974 HGNC:23540 ENSG00000242135 ribosomal protein L17 pseudogene 2 RPL17P2 Yes No Ensembl:ENSG00000242135, GeneCard:RPL17P2, HGNC:HGNC:23540, NCBI Gene:652974, RefSeq DNA:NG_009524, RefSeq DNA:NT_026437 No chr14 60679081 60679548 60212453 60212954 +PA134927801 326286 HGNC:19796 ENSG00000271705 ribosomal protein L17 pseudogene 3 RPL17P3 Yes No Ensembl:ENSG00000271705, GeneCard:RPL17P3, HGNC:HGNC:19796, NCBI Gene:326286, RefSeq DNA:NG_002540, RefSeq DNA:NT_026437 No chr14 81467478 81468161 81001134 81001817 +PA134934306 326288 HGNC:19811 ribosomal protein L17 pseudogene 4 RPL17P4 Yes No GeneCard:RPL17P4, HGNC:HGNC:19811, NCBI Gene:326288, RefSeq DNA:NG_002541, RefSeq DNA:NT_026437 No chr14 103749235 103749835 103282898 103283498 +PA34679 6141 HGNC:10310 ENSG00000063177 ribosomal protein L18 RPL18 60S ribosomal protein L18 L18, eL18 Yes No Comparative Toxicogenomics Database:6141, Ensembl:ENSG00000063177, GenAtlas:RPL18, GeneCard:RPL18, HGNC:HGNC:10310, HumanCyc Gene:HS00777, ModBase:Q07020, NCBI Gene:6141, OMIM:604179, RefSeq DNA:NT_011109, RefSeq Protein:NP_000970, RefSeq RNA:NM_000979, UCSC Genome Browser:NM_000979, UniProtKB:Q07020 No chr19 49118584 49122675 48615327 48619418 +PA34680 6142 HGNC:10311 ENSG00000105640 ribosomal protein L18a RPL18A 60S ribosomal protein L18a, ribosomal protein L18a-like protein L18A, eL20 Yes No Comparative Toxicogenomics Database:6142, Ensembl:ENSG00000105640, GenAtlas:RPL18A, GeneCard:RPL18A, HGNC:HGNC:10311, HumanCyc Gene:HS10288, ModBase:Q02543, NCBI Gene:6142, OMIM:604178, RefSeq DNA:NT_011295, RefSeq Protein:NP_000971, RefSeq RNA:NM_000980, UCSC Genome Browser:NM_000980, UniProtKB:Q02543 No chr19 17970687 17974133 17859878 17863324 +PA134988387 326289 HGNC:19778 ribosomal protein L18a pseudogene 1 RPL18AP1 Yes No GeneCard:RPL18AP1, HGNC:HGNC:19778, NCBI Gene:326289, RefSeq DNA:NG_002542, RefSeq DNA:NT_026437 No chr14 93689895 93690521 93223549 93224175 +PA134993106 387494 HGNC:23774 ENSG00000225043 ribosomal protein L18a pseudogene 2 RPL18AP2 Yes No Ensembl:ENSG00000225043, GeneCard:RPL18AP2, HGNC:HGNC:23774, NCBI Gene:387494, RefSeq DNA:NG_009884, RefSeq DNA:NT_011515 No chr21 47840411 47840957 46420497 46421043 +PA142671018 390354 HGNC:31387 ENSG00000213442 ribosomal protein L18a pseudogene 3 RPL18AP3 bcm182 Yes No Ensembl:ENSG00000213442, GeneCard:RPL18AP3, HGNC:HGNC:31387, NCBI Gene:390354, RefSeq DNA:NT_029419, RefSeq RNA:NR_001593 No chr12 104659052 104659669 104265269 104265892 +PA134989699 326291 HGNC:19673 ENSG00000242417 ribosomal protein L18 pseudogene 1 RPL18P1 Yes No Ensembl:ENSG00000242417, GeneCard:RPL18P1, HGNC:HGNC:19673, NCBI Gene:326291, RefSeq DNA:NG_002543, RefSeq DNA:NT_026437 No chr14 48959100 48959670 48489897 48490467 +PA34681 6143 HGNC:10312 ENSG00000108298 ribosomal protein L19 RPL19 """60S ribosomal protein L19"", ""ribosomal protein L19, cytosolic, N-terminus truncated""" DKFZp779D216, FLJ27452, L19, MGC71997, eL19 Yes No Comparative Toxicogenomics Database:6143, Ensembl:ENSG00000108298, GenAtlas:RPL19, GeneCard:RPL19, HGNC:HGNC:10312, HumanCyc Gene:HS03084, ModBase:P84098, NCBI Gene:6143, OMIM:180466, RefSeq DNA:NT_010783, RefSeq Protein:NP_000972, RefSeq RNA:NM_000981, UCSC Genome Browser:NM_000981, UniProtKB:P84098 No chr17 37356536 37360980 39200283 39204727 +PA34682 140759 HGNC:16595 ENSG00000226217 ribosomal protein L19 pseudogene 1 RPL19P1 dJ860F19.2 Yes No Ensembl:ENSG00000226217, GenAtlas:RPL19P1, GeneCard:RPL19P1, HGNC:HGNC:16595, NCBI Gene:140759, RefSeq DNA:NG_001002, RefSeq DNA:NT_011387 No chr20 2761261 2761688 2780615 2781042 +PA142671019 654382 HGNC:29946 ribosomal protein L19 pseudogene 2 RPL19P2 Yes No GeneCard:RPL19P2, HGNC:HGNC:29946, NCBI Gene:654382, RefSeq DNA:NG_009531, RefSeq DNA:NT_022517 No chr3 57168131 57168830 57134103 57134802 +PA34683 6144 HGNC:10313 ENSG00000122026 ribosomal protein L21 RPL21 60S ribosomal protein L21 DKFZp686C06101, FLJ27458, L21, MGC104274, MGC104275, MGC71252, eL21 Yes No Comparative Toxicogenomics Database:6144, Ensembl:ENSG00000122026, GenAtlas:RPL21, GeneCard:RPL21, HGNC:HGNC:10313, HumanCyc Gene:HS04541, ModBase:P46778, NCBI Gene:6144, OMIM:603636, RefSeq DNA:NT_024524, RefSeq DNA:NT_079592, RefSeq Protein:NP_000973, RefSeq RNA:NM_000982, UCSC Genome Browser:NM_000982, UniProtKB:P46778, UniProtKB:Q6IAX2 No chr13 27825692 27830705 27251555 27256568 +PA34684 6145 HGNC:10314 ENSG00000214760 ribosomal protein L21 pseudogene 1 RPL21P1 Yes No Ensembl:ENSG00000214760, GenAtlas:RPL21P1, GeneCard:RPL21P1, HGNC:HGNC:10314, NCBI Gene:6145, RefSeq DNA:NG_000868, RefSeq DNA:NT_009755 No chr12 122849289 122850221 122364742 122365674 +PA134976889 319143 HGNC:19795 ENSG00000239272 ribosomal protein L21 pseudogene 10 RPL21P10 Yes No Ensembl:ENSG00000239272, GeneCard:RPL21P10, HGNC:HGNC:19795, NCBI Gene:319143, RefSeq DNA:NG_002519, RefSeq DNA:NT_026437 No chr14 78149533 78150370 77683190 77684027 +PA134955565 157206 HGNC:19800 ENSG00000242571 ribosomal protein L21 pseudogene 11 RPL21P11 Yes No Ensembl:ENSG00000242571, GeneCard:RPL21P11, HGNC:HGNC:19800, NCBI Gene:157206, RefSeq DNA:NG_002488, RefSeq DNA:NT_026437 No chr14 90832979 90833566 90366635 90367222 +PA134897033 122409 HGNC:19810 ENSG00000259535 ribosomal protein L21 pseudogene 12 RPL21P12 Yes No Ensembl:ENSG00000259535, GeneCard:RPL21P12, HGNC:HGNC:19810, NCBI Gene:122409, RefSeq DNA:NG_002482, RefSeq DNA:NT_026437 No chr14 103614894 103615775 103148557 103149438 +PA134941885 319144 HGNC:19812 ENSG00000242837 ribosomal protein L21 pseudogene 13 RPL21P13 Yes No Ensembl:ENSG00000242837, GeneCard:RPL21P13, HGNC:HGNC:19812, NCBI Gene:319144, RefSeq DNA:NG_002520, RefSeq DNA:NT_026437 No chr14 103707789 103708342 103241452 103242005 +PA142671022 729208 HGNC:31029 ribosomal protein L21 pseudogene 14 RPL21P14 HsT16795 Yes No GeneCard:RPL21P14, HGNC:HGNC:31029, NCBI Gene:729208, RefSeq DNA:NG_009507, RefSeq DNA:NT_010194 No chr15 59161818 59162366 58869619 58870167 +PA142671023 654385 HGNC:31030 ribosomal protein L21 pseudogene 15 RPL21P15 HsT18206 Yes No GeneCard:RPL21P15, HGNC:HGNC:31030, NCBI Gene:654385, RefSeq DNA:NG_009532, RefSeq DNA:NT_010194 No chr15 64923276 64923732 64631077 64631533 +PA134877960 729402 HGNC:31396 ENSG00000220842 ribosomal protein L21 pseudogene 16 RPL21P16 Em:AC073587.1 Yes No Ensembl:ENSG00000220842, GeneCard:RPL21P16, HGNC:HGNC:31396, NCBI Gene:729402, RefSeq DNA:NG_009450, RefSeq DNA:NT_030059 No chr10 122114157 122114738 120354645 120355226 +PA142671024 727810 HGNC:19416 ENSG00000214073 ribosomal protein L21 pseudogene 17 RPL21P17 Yes No Ensembl:ENSG00000214073, GeneCard:RPL21P17, HGNC:HGNC:19416, NCBI Gene:727810, RefSeq DNA:NG_009372, RefSeq DNA:NT_022517 No chr3 1947332 1947853 1905648 1906169 +PA142671025 729484 HGNC:28362 ENSG00000213343 ribosomal protein L21 pseudogene 18 RPL21P18 ENSG00000184796 Yes No Ensembl:ENSG00000213343, GeneCard:RPL21P18, HGNC:HGNC:28362, NCBI Gene:729484, RefSeq DNA:NG_009709, RefSeq DNA:NT_029419 No chr12 66430975 66431524 66037195 66037744 +PA34685 140715 HGNC:16539 ENSG00000215063 ribosomal protein L21 pseudogene 2 RPL21P2 bA352D3.1 Yes No Ensembl:ENSG00000215063, GenAtlas:RPL21P2, GeneCard:RPL21P2, HGNC:HGNC:16539, NCBI Gene:140715, RefSeq DNA:NG_000986, RefSeq DNA:NT_011387 No chr20 4040248 4040799 4059601 4060152 +PA34686 128760 HGNC:16533 ENSG00000225419 ribosomal protein L21 pseudogene 3 RPL21P3 bA189K21.4 Yes No Ensembl:ENSG00000225419, GenAtlas:RPL21P3, GeneCard:RPL21P3, HGNC:HGNC:16533, NCBI Gene:128760, RefSeq DNA:NG_000976, RefSeq DNA:NT_011387 No chr20 18465869 18466711 18485225 18486067 +PA34687 140660 HGNC:17959 ENSG00000240828 ribosomal protein L21 pseudogene 4 RPL21P4 Yes No Ensembl:ENSG00000240828, GenAtlas:RPL21P4, GeneCard:RPL21P4, HGNC:HGNC:17959, NCBI Gene:140660, RefSeq DNA:NG_000980, RefSeq DNA:NT_010783 No chr17 41231278 41231833 43079261 43079816 +PA142671020 641613 HGNC:23541 ENSG00000258640 ribosomal protein L21 pseudogene 5 RPL21P5 Yes No Ensembl:ENSG00000258640, GeneCard:RPL21P5, HGNC:HGNC:23541, NCBI Gene:641613, RefSeq DNA:NG_009393, RefSeq DNA:NT_026437 No chr14 31580759 31581489 31111553 31112283 +PA142671021 652975 HGNC:23542 ENSG00000239199 ribosomal protein L21 pseudogene 6 RPL21P6 Yes No Ensembl:ENSG00000239199, GeneCard:RPL21P6, HGNC:HGNC:23542, NCBI Gene:652975, RefSeq DNA:NG_009398, RefSeq DNA:NT_026437 No chr14 55880258 55880820 55413540 55414102 +PA134892600 145370 HGNC:19772 ENSG00000258613 ribosomal protein L21 pseudogene 7 RPL21P7 Yes No Ensembl:ENSG00000258613, GeneCard:RPL21P7, HGNC:HGNC:19772, NCBI Gene:145370, RefSeq DNA:NG_002487, RefSeq DNA:NT_026437 No chr14 65733321 65734450 65266603 65267732 +PA134930329 319145 HGNC:19779 ENSG00000180662 ribosomal protein L21 pseudogene 8 RPL21P8 Yes No Ensembl:ENSG00000180662, GeneCard:RPL21P8, HGNC:HGNC:19779, NCBI Gene:319145, RefSeq DNA:NG_002521, RefSeq DNA:NT_026437 No chr14 65934492 65935102 65467774 65468384 +PA134879419 283562 HGNC:19780 ENSG00000258618 ribosomal protein L21 pseudogene 9 RPL21P9 Yes No Ensembl:ENSG00000258618, GeneCard:RPL21P9, HGNC:HGNC:19780, NCBI Gene:283562, RefSeq DNA:NG_002491, RefSeq DNA:NT_026437 No chr14 68181222 68181942 67714505 67715225 +PA34688 6146 HGNC:10315 ENSG00000116251 ribosomal protein L22 RPL22 EAP, L22, eL22 Yes No Comparative Toxicogenomics Database:6146, Ensembl:ENSG00000116251, GenAtlas:RPL22, GeneCard:RPL22, HGNC:HGNC:10315, HumanCyc Gene:HS04000, NCBI Gene:6146, OMIM:180474, RefSeq DNA:NT_021937, RefSeq Protein:NP_000974, RefSeq RNA:NM_000983, UCSC Genome Browser:NM_000983, UniProtKB:P35268 No chr1 6245080 6259679 6185020 6199619 +PA142671026 200916 HGNC:27610 ENSG00000163584 ribosomal protein L22 like 1 RPL22L1 ribosomal protein L22-like 1 Yes No Comparative Toxicogenomics Database:200916, Ensembl:ENSG00000163584, GeneCard:RPL22L1, HGNC:HGNC:27610, NCBI Gene:200916, RefSeq DNA:NT_005612, RefSeq Protein:NP_001093115, RefSeq RNA:NM_001099645, UniProtKB:Q6P5R6 No chr3 170582664 170588045 170864875 170870256 +PA34689 125371 HGNC:17998 ENSG00000213178 ribosomal protein L22 pseudogene 1 RPL22P1 Yes No Ensembl:ENSG00000213178, GenAtlas:RPL22P1, GeneCard:RPL22P1, HGNC:HGNC:17998, NCBI Gene:125371, RefSeq DNA:NG_009515, RefSeq DNA:NT_005612 No chr3 169201406 169201808 169483618 169484020 +PA134943215 326292 HGNC:19794 ENSG00000241081 ribosomal protein L22 pseudogene 2 RPL22P2 Yes No Ensembl:ENSG00000241081, GeneCard:RPL22P2, HGNC:HGNC:19794, NCBI Gene:326292, RefSeq DNA:NG_002544, RefSeq DNA:NT_026437 No chr14 77352663 77353118 76886320 76886775 +PA34690 9349 HGNC:10316 ENSG00000125691 ribosomal protein L23 RPL23 L23, rpL17, uL14 Yes No Comparative Toxicogenomics Database:9349, Ensembl:ENSG00000125691, GenAtlas:RPL23, GeneCard:RPL23, HGNC:HGNC:10316, HumanCyc Gene:HS04915, ModBase:P62829, NCBI Gene:9349, OMIM:603662, RefSeq DNA:NT_010783, RefSeq Protein:NP_000969, RefSeq RNA:NM_000978, UCSC Genome Browser:NM_000978, UniProtKB:P62829 No chr17 37006321 37010053 38850068 38853800 +PA34691 6147 HGNC:10317 ENSG00000198242 ribosomal protein L23a RPL23A L23A, uL23 Yes No Comparative Toxicogenomics Database:6147, Ensembl:ENSG00000198242, GenAtlas:RPL23A, GeneCard:RPL23A, HGNC:HGNC:10317, HumanCyc Gene:HS04253, ModBase:P62750, NCBI Gene:6147, OMIM:602326, RefSeq DNA:NT_010799, RefSeq Protein:NP_000975, RefSeq RNA:NM_000984, UCSC Genome Browser:NM_000984, UniProtKB:P62750 No chr17 27047000 27051374 28719982 28724356 +PA34692 6148 HGNC:10318 ENSG00000239257 ribosomal protein L23a pseudogene 1 RPL23AP1 Yes No Ensembl:ENSG00000239257, GenAtlas:RPL23AP1, GeneCard:RPL23AP1, HGNC:HGNC:10318, NCBI Gene:6148, RefSeq DNA:NG_001027, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29694409 29694931 29726597 29727154 +PA134934032 326293 HGNC:19804 ENSG00000240051 ribosomal protein L23a pseudogene 10 RPL23AP10 Yes No Ensembl:ENSG00000240051, GeneCard:RPL23AP10, HGNC:HGNC:19804, NCBI Gene:326293, RefSeq DNA:NG_002545, RefSeq DNA:NT_026437 No chr14 96922866 96923390 96456529 96457053 +PA134920698 326294 HGNC:19808 ENSG00000230988 ribosomal protein L23a pseudogene 11 RPL23AP11 Yes No Ensembl:ENSG00000230988, GeneCard:RPL23AP11, HGNC:HGNC:19808, NCBI Gene:326294, RefSeq DNA:NG_002546, RefSeq DNA:NT_026437 No chr14 103128530 103129065 102662193 102662728 +PA134887275 391282 HGNC:23840 ENSG00000228861 ribosomal protein L23a pseudogene 12 RPL23AP12 Yes No Ensembl:ENSG00000228861, GeneCard:RPL23AP12, HGNC:HGNC:23840, NCBI Gene:391282, RefSeq DNA:NG_009514, RefSeq DNA:NT_011512 No chr21 40499481 40500002 39127555 39128076 +PA142671014 341511 HGNC:21007 ENSG00000224438 ribosomal protein L23a pseudogene 14 RPL23AP14 Yes No Ensembl:ENSG00000224438, GeneCard:RPL23AP14, HGNC:HGNC:21007, NCBI Gene:341511, RefSeq DNA:NG_006075, RefSeq DNA:NT_009759 No chr12 2891060 2891586 2781894 2782420 +PA34693 401904 HGNC:10319 ENSG00000225067 ribosomal protein L23a pseudogene 2 RPL23AP2 Yes No Ensembl:ENSG00000225067, GenAtlas:RPL23AP2, GeneCard:RPL23AP2, HGNC:HGNC:10319, NCBI Gene:401904, RefSeq DNA:NG_006074, RefSeq DNA:NT_011295 No chr19 15722452 15723420 15611641 15612609 +PA34694 8489 HGNC:10320 ENSG00000214914 ribosomal protein L23a pseudogene 3 RPL23AP3 Yes No Ensembl:ENSG00000214914, GenAtlas:RPL23AP3, GeneCard:RPL23AP3, HGNC:HGNC:10320, NCBI Gene:8489, RefSeq DNA:NG_000878, RefSeq DNA:NT_011512 No chr21 37388340 37388855 36016042 36016557 +PA34695 54029 HGNC:10321 ENSG00000212932 ribosomal protein L23a pseudogene 4 RPL23AP4 Yes No Ensembl:ENSG00000212932, GenAtlas:RPL23AP4, GeneCard:RPL23AP4, HGNC:HGNC:10321, NCBI Gene:54029, RefSeq DNA:NG_000910, RefSeq DNA:NT_011515 No chr21 48110662 48111169 46690750 46691257 +PA34696 729480 HGNC:14194 ribosomal protein L23a pseudogene 5 RPL23AP5 Yes No GenAtlas:RPL23AP5, GeneCard:RPL23AP5, HGNC:HGNC:14194, NCBI Gene:729480, RefSeq DNA:NG_006537, RefSeq DNA:NT_010393 No chr16 436746 437290 386746 387290 +PA34697 128709 HGNC:16555 ENSG00000214835 ribosomal protein L23a pseudogene 6 RPL23AP6 dJ1068F16.1 Yes No Ensembl:ENSG00000214835, GenAtlas:RPL23AP6, GeneCard:RPL23AP6, HGNC:HGNC:16555, NCBI Gene:128709, RefSeq DNA:NG_000971, RefSeq DNA:NT_011387 No chr20 10329760 10330287 10349112 10349639 +PA34698 118433 HGNC:17336 ENSG00000240356 ribosomal protein L23a pseudogene 7 RPL23AP7 RPL23AL1, bA395L14.9 Yes No Ensembl:ENSG00000240356, GenAtlas:RPL23AP7, GeneCard:RPL23AP7, HGNC:HGNC:17336, NCBI Gene:118433, RefSeq DNA:NT_022135, RefSeq DNA:NT_079592, RefSeq RNA:NR_000029, RefSeq RNA:NR_024528, RefSeq RNA:NR_024529, RefSeq RNA:NR_024530, RefSeq RNA:NR_024531 No chr2 114368816 114384715 113611239 113627138 +PA142671012 641614 HGNC:23543 ENSG00000241582 ribosomal protein L23a pseudogene 8 RPL23AP8 RPL23AP9 Yes No Ensembl:ENSG00000241582, GeneCard:RPL23AP8, HGNC:HGNC:23543, NCBI Gene:641614, RefSeq DNA:NG_006076, RefSeq DNA:NT_026437 No chr14 35163361 35163899 34694155 34694693 +PA34700 54028 HGNC:10324 ENSG00000176054 ribosomal protein L23 pseudogene 2 RPL23P2 Yes No Ensembl:ENSG00000176054, GenAtlas:RPL23P2, GeneCard:RPL23P2, HGNC:HGNC:10324, NCBI Gene:54028, RefSeq DNA:NG_000909, RefSeq DNA:NT_011512 No chr21 30369877 30370391 28997556 28998070 +PA34701 6152 HGNC:10325 ENSG00000114391 ribosomal protein L24 RPL24 L24, eL24 Yes No Comparative Toxicogenomics Database:6152, Ensembl:ENSG00000114391, GenAtlas:RPL24, GeneCard:RPL24, HGNC:HGNC:10325, HumanCyc Gene:HS03765, ModBase:P83731, NCBI Gene:6152, OMIM:604180, RefSeq DNA:NT_005612, RefSeq Protein:NP_000977, RefSeq RNA:NM_000986, UCSC Genome Browser:NM_000986, UniProtKB:P83731 No chr3 101399934 101405564 101681090 101686719 +PA34703 140760 HGNC:16597 ENSG00000235065 ribosomal protein L24 pseudogene 2 RPL24P2 dJ872K7.2 Yes No Ensembl:ENSG00000235065, GenAtlas:RPL24P2, GeneCard:RPL24P2, HGNC:HGNC:16597, NCBI Gene:140760, RefSeq DNA:NG_001003, RefSeq DNA:NT_011387 No chr20 21095322 21095871 21114681 21115230 +PA134963116 145235 HGNC:19784 ribosomal protein L24 pseudogene 3 RPL24P3 Yes No GeneCard:RPL24P3, HGNC:HGNC:19784, NCBI Gene:145235, RefSeq DNA:NG_002525, RefSeq DNA:NT_026437 No chr14 70027717 70028230 69561000 69561513 +PA134988097 377381 HGNC:21371 ENSG00000181524 ribosomal protein L24 pseudogene 4 RPL24P4 dJ125M3.1 Yes No Ensembl:ENSG00000181524, GeneCard:RPL24P4, HGNC:HGNC:21371, NCBI Gene:377381, RefSeq DNA:NG_003160, RefSeq DNA:NT_007592 No chr6 42924072 42924504 42956334 42956766 +PA34705 6154 HGNC:10327 ENSG00000161970 ribosomal protein L26 RPL26 L26, uL24 Yes No Comparative Toxicogenomics Database:6154, Ensembl:ENSG00000161970, GenAtlas:RPL26, GeneCard:RPL26, HGNC:HGNC:10327, HumanCyc Gene:HS08631, ModBase:P61254, NCBI Gene:6154, OMIM:603704, RefSeq DNA:NT_010718, RefSeq Protein:NP_000978, RefSeq RNA:NM_000987, UCSC Genome Browser:NM_000987, UniProtKB:P61254 No chr17 8280834 8286565 8377516 8383247 +PA34706 51121 HGNC:17050 ENSG00000037241 ribosomal protein L26 like 1 RPL26L1 ribosomal protein L26-like 1 RPL26P1 Yes No Ensembl:ENSG00000037241, GenAtlas:RPL26L1, GeneCard:RPL26L1, HGNC:HGNC:17050, HumanCyc Gene:HS00522, ModBase:Q9UNX3, NCBI Gene:51121, RefSeq DNA:NT_023133, RefSeq Protein:NP_057177, RefSeq RNA:NM_016093, UCSC Genome Browser:NM_016093, UniProtKB:Q9UNX3 No chr5 172385917 172396774 172953677 172969771 +PA134935428 326297 HGNC:19773 ribosomal protein L26 pseudogene 2 RPL26P2 Yes No GeneCard:RPL26P2, HGNC:HGNC:19773, NCBI Gene:326297, RefSeq DNA:NG_002549, RefSeq DNA:NT_026437 No chr14 23163261 23163790 22694052 22694581 +PA134958804 326298 HGNC:19776 ENSG00000240179 ribosomal protein L26 pseudogene 3 RPL26P3 Yes No Ensembl:ENSG00000240179, GeneCard:RPL26P3, HGNC:HGNC:19776, NCBI Gene:326298, RefSeq DNA:NG_002550, RefSeq DNA:NT_026437 No chr14 28959111 28959598 28489905 28490392 +PA134951639 283603 HGNC:19807 ribosomal protein L26 pseudogene 4 RPL26P4 Yes No GeneCard:RPL26P4, HGNC:HGNC:19807, NCBI Gene:283603, RefSeq DNA:NG_002527, RefSeq DNA:NT_026437 No chr14 102144274 102144760 101677937 101678423 +PA142671015 654386 HGNC:31031 ribosomal protein L26 pseudogene 5 RPL26P5 HsT41398 Yes No GeneCard:RPL26P5, HGNC:HGNC:31031, NCBI Gene:654386, RefSeq DNA:NG_009883, RefSeq DNA:NT_010274 No chr15 94816725 94817231 94273496 94274002 +PA34707 6155 HGNC:10328 ENSG00000131469 ribosomal protein L27 RPL27 60S ribosomal protein L27 L27, eL27 Yes No Comparative Toxicogenomics Database:6155, Ensembl:ENSG00000131469, GenAtlas:RPL27, GeneCard:RPL27, HGNC:HGNC:10328, HumanCyc Gene:HS05532, ModBase:P61353, NCBI Gene:6155, OMIM:607526, RefSeq DNA:NT_010783, RefSeq Protein:NP_000979, RefSeq RNA:NM_000988, UCSC Genome Browser:NM_000988, UniProtKB:P61353 No chr17 41150446 41154976 42998429 43002959 +PA34708 6157 HGNC:10329 ENSG00000166441 ribosomal protein L27a RPL27A L27A, uL15 Yes No Comparative Toxicogenomics Database:6157, Ensembl:ENSG00000166441, GenAtlas:RPL27A, GeneCard:RPL27A, HGNC:HGNC:10329, HumanCyc Gene:HS09398, ModBase:P46776, NCBI Gene:6157, OMIM:603637, RefSeq DNA:NT_009237, RefSeq Protein:NP_000981, RefSeq RNA:NM_000990, UCSC Genome Browser:NM_000990, UniProtKB:P46776 No chr11 8703995 8711419 8682448 8689872 +PA34709 128481 HGNC:16250 ENSG00000215467 ribosomal protein L27a pseudogene RPL27AP dJ1028D15.2 Yes No Ensembl:ENSG00000215467, GenAtlas:RPL27AP, GeneCard:RPL27AP, HGNC:HGNC:16250, NCBI Gene:128481, RefSeq DNA:NG_000965, RefSeq DNA:NT_011362 No chr20 42281148 42281980 43652508 43653340 +PA134917498 326299 HGNC:19668 ribosomal protein L27 pseudogene 1 RPL27P1 Yes No GeneCard:RPL27P1, HGNC:HGNC:19668, NCBI Gene:326299, RefSeq DNA:NG_002551, RefSeq DNA:NT_026437 No chr14 31290597 31291091 30821391 30821885 +PA34710 6158 HGNC:10330 ENSG00000108107 ribosomal protein L28 RPL28 60S ribosomal protein L28 FLJ43307, L28, eL28 Yes No Comparative Toxicogenomics Database:6158, Ensembl:ENSG00000108107, GenAtlas:RPL28, GeneCard:RPL28, HGNC:HGNC:10330, HumanCyc Gene:HS03066, NCBI Gene:6158, OMIM:603638, RefSeq DNA:NT_011109, RefSeq Protein:NP_000982, RefSeq Protein:NP_001129606, RefSeq Protein:NP_001129607, RefSeq Protein:NP_001129608, RefSeq Protein:NP_001129609, RefSeq RNA:NM_000991, RefSeq RNA:NM_001136134, RefSeq RNA:NM_001136135, RefSeq RNA:NM_001136136, RefSeq RNA:NM_001136137, UCSC Genome Browser:NM_000991, UniProtKB:B4DEP9, UniProtKB:C9JB50, UniProtKB:P46779 No chr19 55897300 55914616 55385932 55392085 +PA134906792 402149 HGNC:31359 ribosomal protein L28 pseudogene 1 RPL28P1 bcm2489 Yes No GeneCard:RPL28P1, HGNC:HGNC:31359, NCBI Gene:402149, RefSeq DNA:NG_009516, RefSeq DNA:NT_005612 No chr3 170371596 170372090 170653807 170654301 +PA34711 6159 HGNC:10331 ENSG00000162244 ribosomal protein L29 RPL29 60S ribosomal protein L29, HP/HS-interacting protein, cell surface heparin-binding protein HIP, heparin/heparan sulfate-binding protein, heparin/heparan sulfate-interacting protein HIP, HUMRPL29, L29, RPL29P10, eL29 Yes No Comparative Toxicogenomics Database:6159, Ensembl:ENSG00000162244, GenAtlas:RPL29, GeneCard:RPL29, HGNC:HGNC:10331, HumanCyc Gene:HS08654, ModBase:P47914, NCBI Gene:6159, OMIM:601832, RefSeq DNA:NT_022517, RefSeq Protein:NP_000983, RefSeq RNA:NM_000992, UCSC Genome Browser:NM_000992, UniProtKB:P47914 No chr3 52027644 52029958 51993628 51995942 +PA134963884 134756 HGNC:21593 ribosomal protein L29 pseudogene 1 RPL29P1 dJ336K20B.2 Yes No GeneCard:RPL29P1, HGNC:HGNC:21593, NCBI Gene:134756, RefSeq DNA:NG_003155, RefSeq DNA:NT_007592 No chr6 7620656 7621118 7620423 7620885 +PA34712 118432 HGNC:17334 ENSG00000240480 ribosomal protein L29 pseudogene 2 RPL29P2 Yes No Ensembl:ENSG00000240480, GenAtlas:RPL29P2, GeneCard:RPL29P2, HGNC:HGNC:17334, NCBI Gene:118432, RefSeq DNA:NT_010718, RefSeq RNA:NR_002778 No chr17 7657638 7658294 7754320 7754976 +PA142671016 729042 HGNC:23565 ENSG00000243730 ribosomal protein L29 pseudogene 3 RPL29P3 Yes No Ensembl:ENSG00000243730, GeneCard:RPL29P3, HGNC:HGNC:23565, NCBI Gene:729042, RefSeq DNA:NG_009496, RefSeq DNA:NT_026437 No chr14 37046599 37047240 36577394 36578035 +PA134936195 387101 HGNC:21482 ribosomal protein L29 pseudogene 4 RPL29P4 bA632C17A.1 Yes No GeneCard:RPL29P4, HGNC:HGNC:21482, NCBI Gene:387101, RefSeq DNA:NG_006976, RefSeq DNA:NT_025741 No chr6 118320091 118320745 117998928 117999582 +PA34713 6122 HGNC:10332 ENSG00000100316 ribosomal protein L3 RPL3 L3, uL3 Yes No Comparative Toxicogenomics Database:6122, Ensembl:ENSG00000100316, GenAtlas:RPL3, GeneCard:RPL3, HGNC:HGNC:10332, HumanCyc Gene:HS02040, ModBase:P39023, NCBI Gene:6122, OMIM:604163, RefSeq DNA:NT_011520, RefSeq Protein:NP_000958, RefSeq Protein:NP_001029025, RefSeq RNA:NM_000967, RefSeq RNA:NM_001033853, UCSC Genome Browser:NM_000967, UniProtKB:B3KS36, UniProtKB:P39023, UniProtKB:Q96QL0 No chr22 39708887 39715670 39312882 39319665 +PA34714 6156 HGNC:10333 ENSG00000156482 ribosomal protein L30 RPL30 L30, eL30 Yes No Comparative Toxicogenomics Database:6156, Ensembl:ENSG00000156482, GenAtlas:RPL30, GeneCard:RPL30, HGNC:HGNC:10333, HumanCyc Gene:HS08131, ModBase:P62888, NCBI Gene:6156, OMIM:180467, RefSeq DNA:NT_008046, RefSeq Protein:NP_000980, RefSeq RNA:NM_000989, UCSC Genome Browser:NM_000989, UniProtKB:P62888 No chr8 99053938 99057818 98041710 98045590 +PA34715 6160 HGNC:10334 ENSG00000071082 ribosomal protein L31 RPL31 L31, eL31 Yes No Comparative Toxicogenomics Database:6160, Ensembl:ENSG00000071082, GenAtlas:RPL31, GeneCard:RPL31, HGNC:HGNC:10334, HumanCyc Gene:HS01025, ModBase:P62899, NCBI Gene:6160, RefSeq DNA:NT_022171, RefSeq Protein:NP_000984, RefSeq Protein:NP_001092047, RefSeq Protein:NP_001093163, RefSeq RNA:NM_000993, RefSeq RNA:NM_001098577, RefSeq RNA:NM_001099693, UCSC Genome Browser:NM_000993, UniProtKB:B7Z4K2, UniProtKB:P62899, UniProtKB:Q6IRZ0 No chr2 101618691 101636155 101002229 101019693 +PA34716 54027 HGNC:10335 ENSG00000214326 ribosomal protein L31 pseudogene 1 RPL31P1 Yes No Ensembl:ENSG00000214326, GenAtlas:RPL31P1, GeneCard:RPL31P1, HGNC:HGNC:10335, NCBI Gene:54027, RefSeq DNA:NG_000908, RefSeq DNA:NT_011515 No chr21 44971078 44971526 43551197 43551645 +PA34717 140753 HGNC:16575 ENSG00000230837 ribosomal protein L31 pseudogene 2 RPL31P2 dJ553F4.5 Yes No Ensembl:ENSG00000230837, GenAtlas:RPL31P2, GeneCard:RPL31P2, HGNC:HGNC:16575, NCBI Gene:140753, RefSeq DNA:NG_000996, RefSeq DNA:NT_011362 No chr20 32339934 32340373 33752128 33752567 +PA34718 140718 HGNC:16549 ENSG00000237929 ribosomal protein L31 pseudogene 3 RPL31P3 dJ1018D12.4 Yes No Ensembl:ENSG00000237929, GenAtlas:RPL31P3, GeneCard:RPL31P3, HGNC:HGNC:16549, NCBI Gene:140718, RefSeq DNA:NG_000989, RefSeq DNA:NT_011362 No chr20 29899007 29899858 31311204 31312055 +PA142671001 729646 HGNC:23546 ribosomal protein L31 pseudogene 4 RPL31P4 Yes No GeneCard:RPL31P4, HGNC:HGNC:23546, NCBI Gene:729646, RefSeq DNA:NG_009376, RefSeq DNA:NT_026437 No chr14 59261348 59261789 58794630 58795071 +PA142671002 100129928 HGNC:23547 ribosomal protein L31 pseudogene 5 RPL31P5 Yes No GeneCard:RPL31P5, HGNC:HGNC:23547, NCBI Gene:100129928, RefSeq DNA:NG_009395, RefSeq DNA:NT_026437 No chr14 64034630 64034998 63567912 63568280 +PA142671003 654387 HGNC:31032 ribosomal protein L31 pseudogene 6 RPL31P6 HsT19508 Yes No GeneCard:RPL31P6, HGNC:HGNC:31032, NCBI Gene:654387, RefSeq DNA:NG_009390, RefSeq DNA:NT_010274 No chr15 93262661 93262942 92719431 92719712 +PA142671004 654391 HGNC:31325 ENSG00000232083 ribosomal protein L31 pseudogene 7 RPL31P7 Yes No Ensembl:ENSG00000232083, GeneCard:RPL31P7, HGNC:HGNC:31325, NCBI Gene:654391, RefSeq DNA:NG_009391, RefSeq DNA:NT_010783 No chr17 78576307 78576755 80602507 80602955 +PA134878767 253013 HGNC:31324 ribosomal protein L31 pseudogene 8 RPL31P8 Yes No GeneCard:RPL31P8, HGNC:HGNC:31324, NCBI Gene:253013, RefSeq DNA:NG_005654, RefSeq DNA:NT_006713 No chr5 59725690 59726129 60429863 60430302 +PA142671005 619464 HGNC:31893 ENSG00000264054 ribosomal protein L31 pseudogene 9 RPL31P9 Yes No Ensembl:ENSG00000264054, GeneCard:RPL31P9, HGNC:HGNC:31893, NCBI Gene:619464, RefSeq DNA:NG_009519, RefSeq DNA:NT_025028 No chr18 64804848 64804995 67137611 67137758 +PA34719 6161 HGNC:10336 ENSG00000144713 ribosomal protein L32 RPL32 L32, eL32 Yes No Comparative Toxicogenomics Database:6161, Ensembl:ENSG00000144713, GenAtlas:RPL32, GeneCard:RPL32, HGNC:HGNC:10336, HumanCyc Gene:HS07196, ModBase:P62910, NCBI Gene:6161, RefSeq DNA:NT_022517, RefSeq DNA:NT_079592, RefSeq Protein:NP_000985, RefSeq Protein:NP_001007074, RefSeq Protein:NP_001007075, RefSeq RNA:NM_000994, RefSeq RNA:NM_001007073, RefSeq RNA:NM_001007074, UCSC Genome Browser:NM_000994, UniProtKB:P62910 No chr3 12876444 12883081 12834945 12841582 +PA34722 6163 HGNC:10339 ENSG00000224796 ribosomal protein L32 pseudogene 1 RPL32P1 RPL32-L Yes No Ensembl:ENSG00000224796, GenAtlas:RPL32P1, GeneCard:RPL32P1, HGNC:HGNC:10339, NCBI Gene:6163, RefSeq DNA:NG_000869, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 33047076 33047788 33079299 33080011 +PA142671006 654388 HGNC:31033 ENSG00000243094 ribosomal protein L32 pseudogene 2 RPL32P2 HsT20607 Yes No Ensembl:ENSG00000243094, GeneCard:RPL32P2, HGNC:HGNC:31033, NCBI Gene:654388, RefSeq DNA:NG_009533, RefSeq DNA:NT_010194 No chr15 34378059 34378567 34085858 34086366 +PA147357453 132241 HGNC:27024 ENSG00000251474 ribosomal protein L32 pseudogene 3 RPL32P3 Yes No Ensembl:ENSG00000251474, GeneCard:RPL32P3, HGNC:HGNC:27024, NCBI Gene:132241, RefSeq DNA:NT_005612, RefSeq RNA:NR_003111 No chr3 129101677 129118282 129382834 129399439 +PA34721 23754 HGNC:10338 ENSG00000236325 ribosomal protein L32 pseudogene 5 RPL32P5 Yes No Ensembl:ENSG00000236325, GenAtlas:RPL32L2, GeneCard:RPL32P5, HGNC:HGNC:10338, NCBI Gene:23754, RefSeq DNA:NG_002456, RefSeq DNA:NT_011519 No chr22 17673738 17674248 17192848 17193358 +PA34723 6164 HGNC:10340 ENSG00000109475 ribosomal protein L34 RPL34 L34, eL34 Yes No Comparative Toxicogenomics Database:6164, Ensembl:ENSG00000109475, GenAtlas:RPL34, GeneCard:RPL34, HGNC:HGNC:10340, HumanCyc Gene:HS03232, NCBI Gene:6164, RefSeq DNA:NT_016354, RefSeq Protein:NP_000986, RefSeq Protein:NP_296374, RefSeq RNA:NM_000995, RefSeq RNA:NM_033625, UCSC Genome Browser:NM_000995, UniProtKB:P49207 No chr4 109541722 109551640 108620558 108630484 +PA34724 26514 HGNC:10341 ENSG00000237049 ribosomal protein L34 pseudogene 1 RPL34P1 Yes No Ensembl:ENSG00000237049, GenAtlas:RPL34P1, GeneCard:RPL34P1, HGNC:HGNC:10341, NCBI Gene:26514, RefSeq DNA:NG_000895, RefSeq DNA:NT_004487 No chr1 168179810 168180221 168210566 168210983 +PA34725 26513 HGNC:10342 ribosomal protein L34 pseudogene 2 RPL34P2 Yes No GenAtlas:RPL34P2, GeneCard:RPL34P2, HGNC:HGNC:10342, NCBI Gene:26513, RefSeq DNA:NG_000894, RefSeq DNA:NT_009237 No chr11 32779813 32780165 32758227 32758660 +PA34726 54026 HGNC:10343 ENSG00000223671 ribosomal protein L34 pseudogene 3 RPL34P3 Yes No Ensembl:ENSG00000223671, GenAtlas:RPL34P3, GeneCard:RPL34P3, HGNC:HGNC:10343, NCBI Gene:54026, RefSeq DNA:NG_000907, RefSeq DNA:NT_011512 No chr21 36844374 36844753 35472076 35472455 +PA34727 11224 HGNC:10344 ENSG00000136942 ribosomal protein L35 RPL35 60S ribosomal protein L35 L35, uL29 Yes No Comparative Toxicogenomics Database:11224, Ensembl:ENSG00000136942, GenAtlas:RPL35, GeneCard:RPL35, HGNC:HGNC:10344, HumanCyc Gene:HS06255, ModBase:P42766, NCBI Gene:11224, RefSeq DNA:NT_008470, RefSeq Protein:NP_009140, RefSeq RNA:NM_007209, UCSC Genome Browser:NM_007209, UniProtKB:P42766 No chr9 127620158 127624240 124857879 124861961 +PA34728 6165 HGNC:10345 ENSG00000182899 ribosomal protein L35a RPL35A GIG33, L35A, eL33 Yes No Comparative Toxicogenomics Database:6165, Ensembl:ENSG00000182899, GenAtlas:RPL35A, GeneCard:RPL35A, HGNC:HGNC:10345, ModBase:P18077, NCBI Gene:6165, OMIM:180468, OMIM:612528, RefSeq DNA:NG_011743, RefSeq DNA:NT_029928, RefSeq Protein:NP_000987, RefSeq RNA:NM_000996, UCSC Genome Browser:NM_000996, UniProtKB:P18077 No chr3 197677023 197682722 197950181 197955851 +PA34729 140716 HGNC:16546 ENSG00000234075 ribosomal protein L35a pseudogene RPL35AP bA456N23.1 Yes No Ensembl:ENSG00000234075, GenAtlas:RPL35AP, GeneCard:RPL35AP, HGNC:HGNC:16546, NCBI Gene:140716, RefSeq DNA:NG_000987, RefSeq DNA:NT_011362 No chr20 46106958 46107754 47478214 47479010 +PA142671007 652983 HGNC:19914 ENSG00000227383 ribosomal protein L35a pseudogene 2 RPL35AP2 bA571F15.2 Yes No Ensembl:ENSG00000227383, GeneCard:RPL35AP2, HGNC:HGNC:19914, NCBI Gene:652983, RefSeq DNA:NG_005490, RefSeq DNA:NT_008413 No chr9 34191517 34191890 34191493 34191909 +PA134885631 387074 HGNC:21117 ENSG00000230350 ribosomal protein L35a pseudogene 3 RPL35AP3 bA55K22.4 Yes No Ensembl:ENSG00000230350, GeneCard:RPL35AP3, HGNC:HGNC:21117, NCBI Gene:387074, RefSeq DNA:NG_009761, RefSeq DNA:NT_025741 No chr6 137295067 137295396 136973930 136974259 +PA34730 25873 HGNC:13631 ENSG00000130255 ribosomal protein L36 RPL36 DKFZp566B023, L36, eL36 Yes No Comparative Toxicogenomics Database:25873, Ensembl:ENSG00000130255, GenAtlas:RPL36, GeneCard:RPL36, HGNC:HGNC:13631, HumanCyc Gene:HS05360, NCBI Gene:25873, RefSeq DNA:NG_017015, RefSeq DNA:NT_011255, RefSeq Protein:NP_056229, RefSeq Protein:NP_378669, RefSeq RNA:NM_015414, RefSeq RNA:NM_033643, UCSC Genome Browser:NM_015414, UniProtKB:Q9Y3U8 No chr19 5690272 5691678 5690261 5691667 +PA164742367 6173 HGNC:10359 ENSG00000241343 ribosomal protein L36a RPL36A L36A, RPL44, eL42 Yes No Ensembl:ENSG00000241343, GeneCard:RPL36A, HGNC:HGNC:10359, ModBase:P83881, NCBI Gene:6173, RefSeq DNA:NG_012523, RefSeq DNA:NT_011651, RefSeq DNA:NT_079592, RefSeq Protein:NP_001186901, RefSeq Protein:NP_066357, RefSeq RNA:NM_001199972, RefSeq RNA:NM_021029, UniProtKB:P83881 No chrX 100645878 100651142 101390890 101396154 +PA34732 6166 HGNC:10346 ENSG00000165502 ribosomal protein L36a like RPL36AL ribosomal protein L36a-like RPL36A, RPL36AP42 Yes No Comparative Toxicogenomics Database:6166, Ensembl:ENSG00000165502, GenAtlas:RPL36AL, GeneCard:RPL36AL, HGNC:HGNC:10346, HumanCyc Gene:HS09242, ModBase:Q969Q0, NCBI Gene:6166, OMIM:180469, RefSeq DNA:NT_026437, RefSeq Protein:NP_000992, RefSeq RNA:NM_001001, UCSC Genome Browser:NM_001001, UniProtKB:Q969Q0 No chr14 50085406 50087403 49618688 49620685 +PA142671008 100131379 HGNC:23548 ribosomal protein L36a pseudogene 1 RPL36AP1 Yes No GeneCard:RPL36AP1, HGNC:HGNC:23548, NCBI Gene:100131379, RefSeq DNA:NG_009389, RefSeq DNA:NT_026437 No chr14 57150095 57150495 56683377 56683777 +PA134993201 326301 HGNC:19777 ribosomal protein L36a pseudogene 2 RPL36AP2 Yes No GeneCard:RPL36AP2, HGNC:HGNC:19777, NCBI Gene:326301, RefSeq DNA:NG_002553, RefSeq DNA:NT_026437 No chr14 65735531 65736297 65268813 65269579 +PA134944218 326304 HGNC:19802 ribosomal protein L36a pseudogene 4 RPL36AP4 Yes No GeneCard:RPL36AP4, HGNC:HGNC:19802, NCBI Gene:326304, RefSeq DNA:NG_002556, RefSeq DNA:NT_026437 No chr14 93710306 93710769 93243960 93244423 +PA134932598 387090 HGNC:21258 ribosomal protein L36a pseudogene 5 RPL36AP5 bA256G5.1 Yes No GeneCard:RPL36AP5, HGNC:HGNC:21258, NCBI Gene:387090, RefSeq DNA:NG_009373, RefSeq DNA:NT_007592 No chr6 42467416 42467817 42499678 42500079 +PA142671009 641556 HGNC:23365 ENSG00000231293 ribosomal protein L36a pseudogene 6 RPL36AP6 bA380I20.1 Yes No Ensembl:ENSG00000231293, GeneCard:RPL36AP6, HGNC:HGNC:23365, NCBI Gene:641556, RefSeq DNA:NG_009374, RefSeq DNA:NT_008470 No chr9 110596738 110597137 107834457 107834856 +PA142671010 728202 HGNC:31328 ribosomal protein L36a pseudogene 7 RPL36AP7 Yes No GeneCard:RPL36AP7, HGNC:HGNC:31328, NCBI Gene:728202, RefSeq DNA:NG_006535, RefSeq DNA:NT_010783 No chr17 73334881 73335278 75338800 75339197 +PA142671011 643007 HGNC:30973 ribosomal protein L36a pseudogene 8 RPL36AP8 Yes No GeneCard:RPL36AP8, HGNC:HGNC:30973, NCBI Gene:643007, RefSeq DNA:NG_009452, RefSeq DNA:NT_010194 No chr15 35235252 35235648 34943051 34943447 +PA34733 140697 HGNC:16338 ENSG00000230636 ribosomal protein L36 pseudogene 1 RPL36P1 bA80K6.3 Yes No Ensembl:ENSG00000230636, GenAtlas:RPL36P1, GeneCard:RPL36P1, HGNC:HGNC:16338, NCBI Gene:140697, RefSeq DNA:NG_000983, RefSeq DNA:NT_011362 No chr20 51506696 51506923 52890157 52890384 +PA34734 140751 HGNC:16570 ENSG00000231302 ribosomal protein L36 pseudogene 2 RPL36P2 dJ530I15.5 Yes No Ensembl:ENSG00000231302, GenAtlas:RPL36P2, GeneCard:RPL36P2, HGNC:HGNC:16570, NCBI Gene:140751, RefSeq DNA:NG_000994, RefSeq DNA:NT_011362 No chr20 49237258 49237658 50620721 50621121 +PA134984809 326303 HGNC:19786 ribosomal protein L36 pseudogene 3 RPL36P3 Yes No HGNC:HGNC:19786, NCBI Gene:326303, RefSeq DNA:NG_002555, RefSeq DNA:NT_026437 No chr14 73396277 73396672 72929569 72929964 +PA34735 140750 HGNC:16569 ENSG00000224497 ribosomal protein L36 pseudogene 4 RPL36P4 dJ477O4.3 Yes No Ensembl:ENSG00000224497, GenAtlas:RPL36P4, GeneCard:RPL36P4, HGNC:HGNC:16569, NCBI Gene:140750, RefSeq DNA:NG_000993, RefSeq DNA:NT_011362 No chr20 34132122 34132551 35544377 35544806 +PA34736 6167 HGNC:10347 ENSG00000145592 ribosomal protein L37 RPL37 60S ribosomal protein L37a L37, eL37 Yes No Comparative Toxicogenomics Database:6167, Ensembl:ENSG00000145592, GenAtlas:RPL37, GeneCard:RPL37, HGNC:HGNC:10347, HumanCyc Gene:HS07263, ModBase:P61927, NCBI Gene:6167, OMIM:604181, RefSeq DNA:NT_006576, RefSeq Protein:NP_000988, RefSeq RNA:NM_000997, UCSC Genome Browser:NM_000997, UniProtKB:P61927 No chr5 40831430 40835387 40831328 40835285 +PA34737 6168 HGNC:10348 ENSG00000197756 ribosomal protein L37a RPL37A L37A, eL43 Yes No Comparative Toxicogenomics Database:6168, Ensembl:ENSG00000197756, GenAtlas:RPL37A, GeneCard:RPL37A, HGNC:HGNC:10348, ModBase:P61513, NCBI Gene:6168, OMIM:613314, RefSeq DNA:NT_005403, RefSeq Protein:NP_000989, RefSeq RNA:NM_000998, UCSC Genome Browser:NM_000998, UniProtKB:P61513 No chr2 217363520 217366190 216498797 216501467 +PA34738 140717 HGNC:16548 ENSG00000226243 ribosomal protein L37a pseudogene 1 RPL37AP1 dJ1013A22.4 Yes No Ensembl:ENSG00000226243, GenAtlas:RPL37AP1, GeneCard:RPL37AP1, HGNC:HGNC:16548, NCBI Gene:140717, RefSeq DNA:NG_000988, RefSeq DNA:NT_011362 No chr20 43095143 43095513 44466503 44466873 +PA34739 140696 HGNC:16337 ENSG00000227401 ribosomal protein L37 pseudogene 1 RPL37P1 bA563A22B.2 Yes No Ensembl:ENSG00000227401, GenAtlas:RPL37P1, GeneCard:RPL37P1, HGNC:HGNC:16337, NCBI Gene:140696, RefSeq DNA:NG_000982, RefSeq DNA:NT_011362 No chr20 34176247 34176530 35588325 35588608 +PA34740 116730 HGNC:17092 ENSG00000239559 ribosomal protein L37 pseudogene 2 RPL37P2 PSANK1 Yes No Ensembl:ENSG00000239559, GenAtlas:RPL37P2, GeneCard:RPL37P2, HGNC:HGNC:17092, NCBI Gene:116730, RefSeq DNA:NG_001301, RefSeq DNA:NT_167190 No chr11 67450164 67450529 67682693 67683058 +PA134955567 378818 HGNC:17238 ENSG00000215369 ribosomal protein L37 pseudogene 3 RPL37P3 RL37P Yes No Ensembl:ENSG00000215369, GeneCard:RPL37P3, HGNC:HGNC:17238, NCBI Gene:378818, RefSeq DNA:NG_005972, RefSeq DNA:NT_011512 No chr21 19266465 19266824 17894148 17894507 +PA134982479 378819 HGNC:17239 ENSG00000230198 ribosomal protein L37 pseudogene 4 RPL37P4 RL37P2 Yes No Ensembl:ENSG00000230198, GeneCard:RPL37P4, HGNC:HGNC:17239, NCBI Gene:378819, RefSeq DNA:NG_005973, RefSeq DNA:NT_011512 No chr21 20966021 20966585 19593707 19594271 +PA142670995 654369 HGNC:23549 ribosomal protein L37 pseudogene 5 RPL37P5 Yes No GeneCard:RPL37P5, HGNC:HGNC:23549, NCBI Gene:654369, RefSeq DNA:NG_005974, RefSeq DNA:NT_026437 No chr14 61038728 61039069 60572010 60572351 +PA142670996 346950 HGNC:31080 ENSG00000241431 ribosomal protein L37 pseudogene 6 RPL37P6 Yes No Ensembl:ENSG00000241431, GeneCard:RPL37P6, HGNC:HGNC:31080, NCBI Gene:346950, RefSeq DNA:NG_005971, RefSeq DNA:NT_008183 No chr8 57500951 57501340 56588392 56588781 +PA34741 6169 HGNC:10349 ENSG00000172809 ribosomal protein L38 RPL38 L38, eL38 Yes No Comparative Toxicogenomics Database:6169, Ensembl:ENSG00000172809, GenAtlas:RPL38, GeneCard:RPL38, HGNC:HGNC:10349, HumanCyc Gene:HS10571, NCBI Gene:6169, OMIM:604182, RefSeq DNA:NT_010783, RefSeq Protein:NP_000990, RefSeq Protein:NP_001030335, RefSeq RNA:NM_000999, RefSeq RNA:NM_001035258, UCSC Genome Browser:NM_000999, UniProtKB:P63173 No chr17 72199795 72206019 74203656 74209880 +PA34742 116809 HGNC:17093 ENSG00000241993 ribosomal protein L38 pseudogene 1 RPL38P1 Yes No Ensembl:ENSG00000241993, GenAtlas:RPL38P1, GeneCard:RPL38P1, HGNC:HGNC:17093, NCBI Gene:116809, RefSeq DNA:NG_000963, RefSeq DNA:NT_005612 No chr3 148413742 148414035 148695955 148696248 +PA34743 6170 HGNC:10350 ENSG00000198918 ribosomal protein L39 RPL39 L39, RPL39P42, eL39 Yes No Comparative Toxicogenomics Database:6170, Ensembl:ENSG00000198918, GenAtlas:RPL39, GeneCard:RPL39, HGNC:HGNC:10350, ModBase:P62891, NCBI Gene:6170, OMIM:601904, RefSeq DNA:NG_016250, RefSeq DNA:NT_011786, RefSeq Protein:NP_000991, RefSeq RNA:NM_001000, UCSC Genome Browser:NM_001000, UniProtKB:P62891 No chrX 118920467 118925622 119786504 119791659 +PA34744 116832 HGNC:17094 ENSG00000163923 ribosomal protein L39 like RPL39L ribosomal protein L39-like RPL39L1 Yes No Ensembl:ENSG00000163923, GenAtlas:RPL39L, GeneCard:RPL39L, HGNC:HGNC:17094, HumanCyc Gene:HS08966, ModBase:Q96EH5, NCBI Gene:116832, OMIM:607547, RefSeq DNA:NT_005612, RefSeq Protein:NP_443201, RefSeq RNA:NM_052969, UCSC Genome Browser:NM_052969, UniProtKB:Q96EH5 No chr3 186838741 186857263 187120953 187139475 +PA34745 140719 HGNC:16558 ENSG00000228601 ribosomal protein L39 pseudogene RPL39P dJ1167H4.5 Yes No Ensembl:ENSG00000228601, GenAtlas:RPL39P, GeneCard:RPL39P, HGNC:HGNC:16558, NCBI Gene:140719, RefSeq DNA:NG_000990, RefSeq DNA:NT_011362 No chr20 55034291 55034688 56459235 56459632 +PA134991602 326306 HGNC:19774 ribosomal protein L39 pseudogene 2 RPL39P2 Yes No GeneCard:RPL39P2, HGNC:HGNC:19774, NCBI Gene:326306, RefSeq DNA:NG_002558, RefSeq DNA:NT_026437 No chr14 23698977 23699341 23229768 23230132 +PA134935387 285785 HGNC:21383 ENSG00000235174 ribosomal protein L39 pseudogene 3 RPL39P3 Em:AC019205.3 Yes No Ensembl:ENSG00000235174, GeneCard:RPL39P3, HGNC:HGNC:21383, NCBI Gene:285785, RefSeq DNA:NG_003156, RefSeq DNA:NT_007299 No chr6 74082653 74083036 73372930 73373313 +PA142670997 654392 HGNC:31327 ribosomal protein L39 pseudogene 4 RPL39P4 Yes No GeneCard:RPL39P4, HGNC:HGNC:31327, NCBI Gene:654392, RefSeq DNA:NG_009535, RefSeq DNA:NT_010783 No chr17 37995428 37995826 39839175 39839573 +PA142670998 553117 HGNC:26015 ENSG00000214289 ribosomal protein L39 pseudogene 5 RPL39P5 Yes No Ensembl:ENSG00000214289, GeneCard:RPL39P5, HGNC:HGNC:26015, ModBase:Q59GN2, NCBI Gene:553117, RefSeq DNA:NG_010827, RefSeq DNA:NT_005612 No chr3 134070581 134070985 134351739 134352143 +PA34746 6123 HGNC:10351 ENSG00000140986 ribosomal protein L3 like RPL3L ribosomal protein L3-like Yes No Ensembl:ENSG00000140986, GenAtlas:RPL3L, GeneCard:RPL3L, HGNC:HGNC:10351, HumanCyc Gene:HS06783, ModBase:Q92901, NCBI Gene:6123, RefSeq DNA:NT_010393, RefSeq Protein:NP_005052, RefSeq RNA:NM_005061, UCSC Genome Browser:NM_005061, UniProtKB:Q92901 No chr16 1994580 2004679 1944571 1955123 +PA34747 8488 HGNC:10352 ENSG00000228149 ribosomal protein L3 pseudogene 1 RPL3P1 Yes No Ensembl:ENSG00000228149, GenAtlas:RPL3P1, GeneCard:RPL3P1, HGNC:HGNC:10352, NCBI Gene:8488, RefSeq DNA:NG_000877, RefSeq DNA:NT_011512 No chr21 37541219 37542504 36168921 36170206 +PA34748 116935 HGNC:17834 ENSG00000227939 ribosomal protein L3 pseudogene 2 RPL3P2 RPL3-Hom Yes No Ensembl:ENSG00000227939, GenAtlas:RPL3P2, GeneCard:RPL3P2, HGNC:HGNC:17834, NCBI Gene:116935, RefSeq DNA:NG_002397, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891 No chr6 31248068 31249348 31280291 31281571 +PA142671037 645798 HGNC:23550 ENSG00000243388 ribosomal protein L3 pseudogene 3 RPL3P3 Yes No Ensembl:ENSG00000243388, GeneCard:RPL3P3, HGNC:HGNC:23550, NCBI Gene:645798, RefSeq DNA:NG_009544, RefSeq DNA:NT_026437 No chr14 57445066 57446394 56978348 56979676 +PA134928703 326307 HGNC:19805 ENSG00000232573 ribosomal protein L3 pseudogene 4 RPL3P4 Yes No Ensembl:ENSG00000232573, GeneCard:RPL3P4, HGNC:HGNC:19805, NCBI Gene:326307, RefSeq DNA:NG_002559, RefSeq DNA:NT_026437 No chr14 99439160 99439638 98972823 98973301 +PA34749 6124 HGNC:10353 ENSG00000174444 ribosomal protein L4 RPL4 60S ribosomal protein L4 L4, uL4 Yes No Comparative Toxicogenomics Database:6124, Ensembl:ENSG00000174444, GenAtlas:RPL4, GeneCard:RPL4, HGNC:HGNC:10353, HumanCyc Gene:HS10798, ModBase:P36578, NCBI Gene:6124, OMIM:180479, RefSeq DNA:NT_010194, RefSeq Protein:NP_000959, RefSeq RNA:NM_000968, UCSC Genome Browser:NM_000968, UniProtKB:P36578 No chr15 66791653 66816870 66499315 66504855 +PA34750 6171 HGNC:10354 ENSG00000229117 ribosomal protein L41 RPL41 L41, eL41 Yes No Comparative Toxicogenomics Database:6171, Ensembl:ENSG00000229117, GenAtlas:RPL41, GeneCard:RPL41, HGNC:HGNC:10354, HumanCyc Gene:HS10231, NCBI Gene:6171, OMIM:613315, RefSeq DNA:NT_029419, RefSeq DNA:NT_079596, RefSeq Protein:NP_001030344, RefSeq Protein:NP_066927, RefSeq RNA:NM_001035267, RefSeq RNA:NM_021104, UCSC Genome Browser:NM_021104, UniProtKB:P62945 No chr12 56510374 56511616 56116590 56117832 +PA34752 22971 HGNC:10356 ENSG00000227063 ribosomal protein L41 pseudogene 1 RPL41P1 Yes No Ensembl:ENSG00000227063, GenAtlas:RPL41P1, GeneCard:RPL41P1, HGNC:HGNC:10356, NCBI Gene:22971, RefSeq DNA:NG_000891, RefSeq DNA:NT_011387 No chr20 21735868 21736290 21755230 21755652 +PA34753 22970 HGNC:10357 ENSG00000256338 ribosomal protein L41 pseudogene 2 RPL41P2 Yes No Ensembl:ENSG00000256338, GenAtlas:RPL41P2, GeneCard:RPL41P2, HGNC:HGNC:10357, NCBI Gene:22970, RefSeq DNA:NG_000890, RefSeq DNA:NT_026446 No chr15 28560799 28561217 28315653 28316071 +PA34754 22969 HGNC:10358 ribosomal protein L41 pseudogene 3 RPL41P3 Yes No GenAtlas:RPL41P3, GeneCard:RPL41P3, HGNC:HGNC:10358, NCBI Gene:22969, RefSeq DNA:NG_000889, RefSeq DNA:NT_011520 No chr22 36234322 36234760 35838275 35838713 +PA142670999 326308 HGNC:19788 ribosomal protein L41 pseudogene 4 RPL41P4 Yes No GeneCard:RPL41P4, HGNC:HGNC:19788, NCBI Gene:326308, RefSeq DNA:NG_002560, RefSeq DNA:NT_026437 No chr14 74470056 74470484 74003353 74003781 +PA34751 6172 HGNC:10355 ENSG00000256393 ribosomal protein L41 pseudogene 5 RPL41P5 Yes No Ensembl:ENSG00000256393, GenAtlas:RPL41L, GeneCard:RPL41P5, HGNC:HGNC:10355, NCBI Gene:6172, RefSeq DNA:NT_029419 No chr12 93477069 93477492 93083293 93083716 +PA142671038 650808 HGNC:23551 ENSG00000240954 ribosomal protein L4 pseudogene 1 RPL4P1 Yes No Ensembl:ENSG00000240954, GeneCard:RPL4P1, HGNC:HGNC:23551, NCBI Gene:650808, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22218496 22219914 21750212 21751630 +PA34755 6125 HGNC:10360 ENSG00000122406 ribosomal protein L5 RPL5 protein phosphatase 1, regulatory subunit 135 L5, PPP1R135, uL18 Yes No Comparative Toxicogenomics Database:6125, Ensembl:ENSG00000122406, GenAtlas:RPL5, GeneCard:RPL5, HGNC:HGNC:10360, HumanCyc Gene:HS04568, ModBase:P46777, NCBI Gene:6125, OMIM:603634, OMIM:612561, RefSeq DNA:NG_011779, RefSeq DNA:NT_032977, RefSeq Protein:NP_000960, RefSeq RNA:NM_000969, UCSC Genome Browser:NM_000969, UniProtKB:A2RUM7, UniProtKB:P46777 No chr1 93297594 93307481 92832037 92841924 +PA34756 647436 HGNC:10361 ENSG00000241061 ribosomal protein L5 pseudogene 1 RPL5P1 Yes No Ensembl:ENSG00000241061, GenAtlas:RPL5P1, GeneCard:RPL5P1, HGNC:HGNC:10361, NCBI Gene:647436, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446 No chr15 25154011 25155047 24908864 24909900 +PA34757 140749 HGNC:16568 ENSG00000237068 ribosomal protein L5 pseudogene 2 RPL5P2 dJ461P17.5 Yes No Ensembl:ENSG00000237068, GenAtlas:RPL5P2, GeneCard:RPL5P2, HGNC:HGNC:16568, NCBI Gene:140749, RefSeq DNA:NG_000992, RefSeq DNA:NT_011362 No chr20 44119458 44120311 45490818 45491671 +PA142671039 400385 HGNC:31034 ENSG00000242276 ribosomal protein L5 pseudogene 3 RPL5P3 HsT18216 Yes No Ensembl:ENSG00000242276, GeneCard:RPL5P3, HGNC:HGNC:31034, NCBI Gene:400385, RefSeq DNA:NG_009504, RefSeq DNA:NT_010194 No chr15 71355377 71356404 71063038 71064065 +PA34758 6128 HGNC:10362 ENSG00000089009 ribosomal protein L6 RPL6 L6, TAXREB107, TXREB1, eL6 Yes No Comparative Toxicogenomics Database:6128, Ensembl:ENSG00000089009, GenAtlas:RPL6, GeneCard:RPL6, HGNC:HGNC:10362, HumanCyc Gene:HS01623, ModBase:Q02878, NCBI Gene:6128, OMIM:603703, RefSeq DNA:NT_009775, RefSeq DNA:NT_079596, RefSeq Protein:NP_000961, RefSeq Protein:NP_001019833, RefSeq RNA:NM_000970, RefSeq RNA:NM_001024662, UCSC Genome Browser:NM_000970, UniProtKB:Q02878 No chr12 112842994 112856647 112405181 112418850 +PA34759 6129 HGNC:10363 ENSG00000147604 ribosomal protein L7 RPL7 L7, humL7-1, uL30 Yes No Comparative Toxicogenomics Database:6129, Ensembl:ENSG00000147604, GenAtlas:RPL7, GeneCard:RPL7, HGNC:HGNC:10363, HumanCyc Gene:HS06429, HumanCyc Gene:HS07455, ModBase:P18124, NCBI Gene:6129, OMIM:604166, RefSeq DNA:NT_008183, RefSeq DNA:NT_079596, RefSeq Protein:NP_000962, RefSeq RNA:NM_000971, UCSC Genome Browser:NM_000971, UniProtKB:P18124 No chr8 74202874 74205869 73290639 73294494 +PA34760 6130 HGNC:10364 ENSG00000148303 ribosomal protein L7a RPL7A 60S ribosomal protein L7a, PLA-X polypeptide, surfeit 3, surfeit locus protein 3, thyroid hormone receptor uncoupling protein L7A, SURF3, TRUP, eL8 Yes No Comparative Toxicogenomics Database:6130, Ensembl:ENSG00000148303, GenAtlas:RPL7A, GeneCard:RPL7A, HGNC:HGNC:10364, HumanCyc Gene:HS07511, ModBase:P62424, NCBI Gene:6130, OMIM:185640, RefSeq DNA:NG_000837, RefSeq DNA:NT_035014, RefSeq Protein:NP_000963, RefSeq RNA:NM_000972, UCSC Genome Browser:NM_000972, UniProtKB:P62424, UniProtKB:Q5T8U4 No chr9 136215069 136218280 133348214 133351425 +PA142671044 161406 HGNC:32433 ENSG00000240522 ribosomal protein L7a pseudogene 10 RPL7AP10 Yes No Ensembl:ENSG00000240522, GeneCard:RPL7AP10, HGNC:HGNC:32433, NCBI Gene:161406, RefSeq DNA:NG_001317, RefSeq DNA:NT_011295 No chr19 21332392 21333261 21149589 21150458 +PA34762 128668 HGNC:16562 ribosomal protein L7a pseudogene 12 RPL7AP12 dJ189G13.1 Yes No GenAtlas:RPL7AL2, GeneCard:RPL7AP12, HGNC:HGNC:16562, NCBI Gene:128668, RefSeq DNA:NG_000969, RefSeq DNA:NT_011387 No chr20 4571581 4571967 4590935 4591321 +PA34763 128748 HGNC:16565 ribosomal protein L7a pseudogene 13 RPL7AP13 dJ348M17.1 Yes No GenAtlas:RPL7AL3, GeneCard:RPL7AP13, HGNC:HGNC:16565, NCBI Gene:128748, RefSeq DNA:NG_000974, RefSeq DNA:NT_011387 No chr20 16664702 16665050 16684057 16684405 +PA34764 140756 HGNC:16590 ENSG00000213979 ribosomal protein L7a pseudogene 14 RPL7AP14 dJ823N20.2 Yes No Ensembl:ENSG00000213979, GenAtlas:RPL7AL4, GeneCard:RPL7AP14, HGNC:HGNC:16590, NCBI Gene:140756, RefSeq DNA:NG_000999, RefSeq DNA:NT_011362 No chr20 36073076 36073958 37444674 37445556 +PA142671040 652978 HGNC:23552 ENSG00000241984 ribosomal protein L7a pseudogene 2 RPL7AP2 Yes No Ensembl:ENSG00000241984, GeneCard:RPL7AP2, HGNC:HGNC:23552, NCBI Gene:652978, RefSeq DNA:NG_009399, RefSeq DNA:NT_026437 No chr14 39626326 39627120 39157122 39157916 +PA142671041 654370 HGNC:23553 ENSG00000256243 ribosomal protein L7a pseudogene 3 RPL7AP3 Yes No Ensembl:ENSG00000256243, GeneCard:RPL7AP3, HGNC:HGNC:23553, NCBI Gene:654370, RefSeq DNA:NG_009375, RefSeq DNA:NT_026437 No chr14 35704321 35704859 35235115 35235653 +PA142671042 652985 HGNC:23554 ENSG00000213641 ribosomal protein L7a pseudogene 4 RPL7AP4 Yes No Ensembl:ENSG00000213641, GeneCard:RPL7AP4, HGNC:HGNC:23554, NCBI Gene:652985, RefSeq DNA:NG_009400, RefSeq DNA:NT_026437 No chr14 56010094 56010949 55543376 55544231 +PA134980005 326309 HGNC:19781 ribosomal protein L7a pseudogene 5 RPL7AP5 Yes No GeneCard:RPL7AP5, HGNC:HGNC:19781, NCBI Gene:326309, RefSeq DNA:NG_002561, RefSeq DNA:NT_026437 No chr14 68805386 68806266 68338669 68339549 +PA134988555 326310 HGNC:19785 ENSG00000242071 ribosomal protein L7a pseudogene 6 RPL7AP6 Yes No Ensembl:ENSG00000242071, GeneCard:RPL7AP6, HGNC:HGNC:19785, NCBI Gene:326310, RefSeq DNA:NG_002562, RefSeq DNA:NT_026437 No chr14 70351999 70352879 69885282 69886162 +PA134932303 353013 HGNC:21395 ENSG00000213880 ribosomal protein L7a pseudogene 7 RPL7AP7 RPL7B, dJ377H14.2 Yes No Ensembl:ENSG00000213880, GeneCard:RPL7AP7, HGNC:HGNC:21395, NCBI Gene:353013, RefSeq DNA:NG_002738, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29770910 29771797 29803133 29804020 +PA134939974 340749 HGNC:23738 ENSG00000230507 ribosomal protein L7a pseudogene 8 RPL7AP8 bA141D8.1 Yes No Ensembl:ENSG00000230507, GeneCard:RPL7AP8, HGNC:HGNC:23738, NCBI Gene:340749, RefSeq DNA:NG_005665, RefSeq DNA:NT_030059 No chr10 88390523 88391385 86630766 86631628 +PA142671043 441642 HGNC:32398 ENSG00000213272 ribosomal protein L7a pseudogene 9 RPL7AP9 Yes No Ensembl:ENSG00000213272, GeneCard:RPL7AP9, HGNC:HGNC:32398, NCBI Gene:441642, RefSeq DNA:NG_001316, RefSeq DNA:NG_010228, RefSeq DNA:NT_029419 No chr12 76993432 76994309 76599652 76600529 +PA134977157 285855 HGNC:21370 ENSG00000146223 ribosomal protein L7 like 1 RPL7L1 ribosomal protein L7-like 1 dJ475N16.4 Yes No Comparative Toxicogenomics Database:285855, Ensembl:ENSG00000146223, GeneCard:RPL7L1, HGNC:HGNC:21370, ModBase:Q6DKI1, NCBI Gene:285855, RefSeq DNA:NT_007592, RefSeq Protein:NP_940888, RefSeq RNA:NM_198486, UniProtKB:Q6DKI1 No chr6 42847354 42857627 42879163 42889896 +PA34766 140695 HGNC:16336 ENSG00000227663 ribosomal protein L7 pseudogene 2 RPL7P2 bA550O8.1 Yes No Ensembl:ENSG00000227663, GenAtlas:RPL7P2, GeneCard:RPL7P2, HGNC:HGNC:16336, NCBI Gene:140695, RefSeq DNA:NG_000981, RefSeq DNA:NT_011387 No chr20 2056202 2056469 2075556 2075823 +PA34767 140857 HGNC:16566 ENSG00000226094 ribosomal protein L7 pseudogene 3 RPL7P3 dJ353C17.2 Yes No Ensembl:ENSG00000226094, GenAtlas:RPL7P3, GeneCard:RPL7P3, HGNC:HGNC:16566, NCBI Gene:140857, RefSeq DNA:NG_001005, RefSeq DNA:NT_011362 No chr20 61169878 61170592 62572671 62573385 +PA134936137 100133037 HGNC:21634 ENSG00000230449 ribosomal protein L7 pseudogene 4 RPL7P4 Em:AB023049.2 Yes No Ensembl:ENSG00000230449, GeneCard:RPL7P4, HGNC:HGNC:21634, NCBI Gene:100133037, RefSeq DNA:NG_009564, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248 No chr6 30664523 30665313 30696746 30697536 +PA142671045 654381 HGNC:28886 ENSG00000241562 ribosomal protein L7 pseudogene 5 RPL7P5 Yes No Ensembl:ENSG00000241562, GeneCard:RPL7P5, HGNC:HGNC:28886, NCBI Gene:654381, RefSeq DNA:NG_009530, RefSeq DNA:NT_010274 No chr15 100091519 100092333 99551314 99552128 +PA142671046 90193 HGNC:32430 ENSG00000227525 ribosomal protein L7 pseudogene 6 RPL7P6 Yes No Ensembl:ENSG00000227525, GeneCard:RPL7P6, HGNC:HGNC:32430, NCBI Gene:90193, RefSeq DNA:NG_005389, RefSeq DNA:NT_009714 No chr12 19242065 19242885 19089131 19089951 +PA34768 6132 HGNC:10368 ENSG00000161016 ribosomal protein L8 RPL8 L8, uL2 Yes No Comparative Toxicogenomics Database:6132, Ensembl:ENSG00000161016, GenAtlas:RPL8, GeneCard:RPL8, HGNC:HGNC:10368, HumanCyc Gene:HS08565, ModBase:P62917, NCBI Gene:6132, OMIM:604177, RefSeq DNA:NT_037704, RefSeq Protein:NP_000964, RefSeq Protein:NP_150644, RefSeq RNA:NM_000973, RefSeq RNA:NM_033301, UCSC Genome Browser:NM_000973, UniProtKB:P62917 No chr8 146015152 146017805 144789765 144792446 +PA134874394 387046 HGNC:13980 ENSG00000216676 ribosomal protein L8 pseudogene 1 RPL8P1 RPL2p, dJ15D7.1 Yes No Ensembl:ENSG00000216676, GeneCard:RPL8P1, HGNC:HGNC:13980, NCBI Gene:387046, RefSeq DNA:NG_009559, RefSeq DNA:NT_007592 No chr6 27620370 27620512 27652591 27652733 +PA134907781 100128766 HGNC:17220 ENSG00000225267 ribosomal protein L8 pseudogene 2 RPL8P2 Yes No Ensembl:ENSG00000225267, GeneCard:RPL8P2, HGNC:HGNC:17220, NCBI Gene:100128766, RefSeq DNA:NG_009886, RefSeq DNA:NT_011512 No chr21 31635731 31642591 30263346 30263881 +PA34769 6133 HGNC:10369 ENSG00000163682 ribosomal protein L9 RPL9 L9, uL6 Yes No Comparative Toxicogenomics Database:6133, Ensembl:ENSG00000163682, GenAtlas:RPL9, GeneCard:RPL9, HGNC:HGNC:10369, HumanCyc Gene:HS09983, ModBase:P32969, NCBI Gene:6133, OMIM:603686, RefSeq DNA:NT_016297, RefSeq Protein:NP_000652, RefSeq Protein:NP_001020092, RefSeq RNA:NM_000661, RefSeq RNA:NM_001024921, UCSC Genome Browser:NM_000661, UniProtKB:P32969, UniProtKB:Q53Z07 No chr4 39455744 39460568 39454124 39458948 +PA34771 729004 HGNC:17049 ENSG00000234324 ribosomal protein L9 pseudogene 2 RPL9P2 Yes No Ensembl:ENSG00000234324, GenAtlas:RPL9P2, GeneCard:RPL9P2, HGNC:HGNC:17049, NCBI Gene:729004, RefSeq DNA:NG_009558, RefSeq DNA:NT_010718 No chr17 15346927 15347603 15443613 15444290 +PA142671047 641616 HGNC:23555 ENSG00000240392 ribosomal protein L9 pseudogene 3 RPL9P3 Yes No Ensembl:ENSG00000240392, GeneCard:RPL9P3, HGNC:HGNC:23555, NCBI Gene:641616, RefSeq DNA:NG_009539, RefSeq DNA:NT_026437 No chr14 35731639 35732338 35262433 35263132 +PA142671048 644223 HGNC:23556 ribosomal protein L9 pseudogene 4 RPL9P4 Yes No GeneCard:RPL9P4, HGNC:HGNC:23556, NCBI Gene:644223, RefSeq DNA:NG_009540, RefSeq DNA:NT_026437 No chr14 31931589 31932628 31462383 31463422 +PA142671049 100129179 HGNC:23557 ENSG00000239510 ribosomal protein L9 pseudogene 5 RPL9P5 Yes No Ensembl:ENSG00000239510, GeneCard:RPL9P5, HGNC:HGNC:23557, NCBI Gene:100129179, RefSeq DNA:NG_008795, RefSeq DNA:NT_026437 No chr14 59030776 59031456 58564058 58564738 +PA134924158 326311 HGNC:19798 ENSG00000241891 ribosomal protein L9 pseudogene 6 RPL9P6 Yes No Ensembl:ENSG00000241891, GeneCard:RPL9P6, HGNC:HGNC:19798, NCBI Gene:326311, RefSeq DNA:NG_002563, RefSeq DNA:NT_026437 No chr14 82243264 82243977 81776920 81777633 +PA34770 6126 HGNC:30335 ENSG00000238103 ribosomal protein L9 pseudogene 7 RPL9P7 Yes No Ensembl:ENSG00000238103, GenAtlas:RPL9P1, GeneCard:RPL9P1, GeneCard:RPL9P7, HGNC:HGNC:30335, NCBI Gene:6126, RefSeq DNA:NG_001192, RefSeq DNA:NG_002471, RefSeq DNA:NT_167197 No chrX 23854761 23855463 23836644 23837346 +PA142671027 254948 HGNC:30334 ribosomal protein L9 pseudogene 8 RPL9P8 RPL9P9 Yes No GeneCard:RPL9P8, HGNC:HGNC:30334, NCBI Gene:254948, RefSeq DNA:NG_002468, RefSeq DNA:NT_077661 No chr15 83040956 83041659 82372211 82372914 +PA34772 6175 HGNC:10371 ENSG00000089157 ribosomal protein lateral stalk subunit P0 RPLP0 """acidic ribosomal phosphoprotein P0"", ""neutral ribosomal phosphoprotein P0"", ""ribosomal protein, large, P0""" L10E, LP0, P0, PRLP0, RPP0, uL10 Yes No Ensembl:ENSG00000089157, GenAtlas:RPLP0, GeneCard:RPLP0, HGNC:HGNC:10371, HumanCyc Gene:HS01638, ModBase:P05388, NCBI Gene:6175, OMIM:180510, RefSeq DNA:NT_009775, RefSeq Protein:NP_000993, RefSeq Protein:NP_444505, RefSeq RNA:NM_001002, RefSeq RNA:NM_053275, UCSC Genome Browser:NM_001002, UniProtKB:P05388 No chr12 120634502 120639014 120196700 120201211 +PA34773 128745 HGNC:16585 ENSG00000226229 ribosomal protein, large, P0 pseudogene 1 RPLP0P1 dJ777L9.2 Yes No Ensembl:ENSG00000226229, GenAtlas:RPLP0P1, GeneCard:RPLP0P1, HGNC:HGNC:16585, NCBI Gene:128745, RefSeq DNA:NG_000973, RefSeq DNA:NT_011387 No chr20 16566978 16567433 16586333 16586788 +PA34774 113157 HGNC:17960 ENSG00000243742 ribosomal protein, large, P0 pseudogene 2 RPLP0P2 Yes No Ensembl:ENSG00000243742, GenAtlas:RPLP0P2, GeneCard:RPLP0P2, HGNC:HGNC:17960, NCBI Gene:113157, RefSeq DNA:NT_167190, RefSeq RNA:NR_002775 No chr11 61382508 61406921 61615036 61639449 +PA142671000 122589 HGNC:23558 ribosomal protein, large, P0 pseudogene 3 RPLP0P3 Yes No GeneCard:RPLP0P3, HGNC:HGNC:23558, NCBI Gene:122589, RefSeq DNA:NG_009485, RefSeq DNA:NT_026437 No chr14 35857261 35858352 35388055 35389146 +PA34775 6176 HGNC:10372 ENSG00000137818 ribosomal protein lateral stalk subunit P1 RPLP1 ribosomal protein, large, P1 LP1, P1 Yes No Comparative Toxicogenomics Database:6176, Ensembl:ENSG00000137818, GenAtlas:RPLP1, GeneCard:RPLP1, HGNC:HGNC:10372, HumanCyc Gene:HS06402, ModBase:P05386, NCBI Gene:6176, OMIM:180520, RefSeq DNA:NT_010194, RefSeq Protein:NP_000994, RefSeq Protein:NP_998890, RefSeq RNA:NM_001003, RefSeq RNA:NM_213725, UCSC Genome Browser:NM_001003, UniProtKB:A6NIB2, UniProtKB:P05386 No chr15 69745159 69747884 69452820 69455545 +PA134875548 145499 HGNC:19793 ribosomal protein, large, P1 pseudogene 1 RPLP1P1 Yes No GeneCard:RPLP1P1, HGNC:HGNC:19793, NCBI Gene:145499, RefSeq DNA:NG_002526, RefSeq DNA:NT_026437 No chr14 77434898 77435526 76968555 76969183 +PA34776 6181 HGNC:10377 ENSG00000177600 ribosomal protein lateral stalk subunit P2 RPLP2 """60S acidic ribosomal protein P2"", ""acidic ribosomal phosphoprotein P2"", ""ribosomal protein, large, P2""" D11S2243E, LP2, MGC71408, P2, RPP2 Yes No Comparative Toxicogenomics Database:6181, Ensembl:ENSG00000177600, GenAtlas:RPLP2, GeneCard:RPLP2, HGNC:HGNC:10377, HumanCyc Gene:HS11190, ModBase:P05387, NCBI Gene:6181, OMIM:180530, RefSeq DNA:NT_009237, RefSeq Protein:NP_000995, RefSeq RNA:NM_001004, UCSC Genome Browser:NM_001004, UniProtKB:P05387, UniProtKB:Q6FG96 No chr11 808841 827592 809936 812876 +PA134866519 442175 HGNC:18724 ENSG00000214374 ribosomal protein, large P2, pseudogene 1 RPLP2P1 dJ408B20.3 Yes No Ensembl:ENSG00000214374, GeneCard:RPLP2P1, HGNC:HGNC:18724, NCBI Gene:442175, RefSeq DNA:NG_010333, RefSeq DNA:NT_007592 No chr6 27932953 27933234 27965128 27965532 +PA34777 6184 HGNC:10381 ENSG00000163902 ribophorin I RPN1 oligosaccharyltransferase 1 homolog (S. cerevisiae), oligosaccharyltransferase complex subunit (non-catalytic) OST1 Yes No Comparative Toxicogenomics Database:6184, Ensembl:ENSG00000163902, GenAtlas:RPN1, GeneCard:RPN1, HGNC:HGNC:10381, HumanCyc Gene:HS08962, ModBase:P04843, NCBI Gene:6184, OMIM:180470, RefSeq DNA:NT_005612, RefSeq Protein:NP_002941, RefSeq RNA:NM_002950, UCSC Genome Browser:NM_002950, UniProtKB:P04843 No chr3 128338813 128369719 128619970 128650876 +PA34778 6185 HGNC:10382 ENSG00000118705 ribophorin II RPN2 oligosaccharyltransferase complex subunit (non-catalytic) RIBIIR, RPN-II, RPNII, SWP1 Yes No Comparative Toxicogenomics Database:6185, Ensembl:ENSG00000118705, GenAtlas:RPN2, GeneCard:RPN2, HGNC:HGNC:10382, HumanCyc Gene:HS04244, ModBase:P04844, NCBI Gene:6185, OMIM:180490, RefSeq DNA:NT_011362, RefSeq Protein:NP_001129243, RefSeq Protein:NP_002942, RefSeq RNA:NM_001135771, RefSeq RNA:NM_002951, UCSC Genome Browser:NM_002951, UniProtKB:P04844, UniProtKB:Q5JYR6 No chr20 35807454 35870026 37179046 37241623 +PA134896894 11102 HGNC:30327 ENSG00000163684 ribonuclease P/MRP subunit p14 RPP14 ribonuclease P/MRP 14kDa subunit P14 Yes No Ensembl:ENSG00000163684, GeneCard:RPP14, HGNC:HGNC:30327, HumanCyc Gene:HS08912, ModBase:O95059, NCBI Gene:11102, OMIM:606112, RefSeq DNA:NT_022517, RefSeq Protein:NP_001092253, RefSeq Protein:NP_008973, RefSeq RNA:NM_001098783, RefSeq RNA:NM_007042, UniProtKB:O95059 No chr3 58291972 58305920 58306245 58322642 +PA134960979 79897 HGNC:21300 ENSG00000239927, ENSG00000241370, ENSG00000241863 ribonuclease P/MRP subunit p21 RPP21 ribonuclease P/MRP 21kDa subunit C6orf135, Em:AB014085.3, FLJ22638 Yes No Comparative Toxicogenomics Database:79897, Ensembl:ENSG00000239927, Ensembl:ENSG00000241370, Ensembl:ENSG00000241863, GeneCard:RPP21, HGNC:HGNC:21300, HumanCyc Gene:HS13674, ModBase:Q86Y51, NCBI Gene:79897, OMIM:612524, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001186049, RefSeq Protein:NP_001186050, RefSeq Protein:NP_079115, RefSeq RNA:NM_001199120, RefSeq RNA:NM_001199121, RefSeq RNA:NM_024839, UniProtKB:Q9H633 No chr6 30312897 30314635 30345129 30346858 +PA134990737 54913 HGNC:30361 ENSG00000178718 ribonuclease P and MRP subunit p25 RPP25 RNase P protein subunit p25, ribonuclease P/MRP 25kDa subunit FLJ20374 Yes No Comparative Toxicogenomics Database:54913, Ensembl:ENSG00000178718, GeneCard:RPP25, HGNC:HGNC:30361, HumanCyc Gene:HS17113, ModBase:Q9BUL9, NCBI Gene:54913, RefSeq DNA:NT_010194, RefSeq Protein:NP_060263, RefSeq RNA:NM_017793, UniProtKB:Q9BUL9 No chr15 75247443 75249775 74955102 74957434 +PA134989644 138716 HGNC:19909 ENSG00000164967 ribonuclease P/MRP subunit p25 like RPP25L ribonuclease P/MRP 25kDa subunit-like C9orf23, MGC29635, bA296L22.5 Yes No Ensembl:ENSG00000164967, GeneCard:C9orf23, HGNC:HGNC:19909, HumanCyc Gene:HS15265, ModBase:Q8N5L8, NCBI Gene:138716, RefSeq DNA:NT_008413, RefSeq Protein:NP_680544, RefSeq Protein:NP_680545, RefSeq RNA:NM_148178, RefSeq RNA:NM_148179, UniProtKB:Q8N5L8 No chr9 34610482 34612110 34610485 34612113 +PA134876345 10556 HGNC:17688 ENSG00000148688 ribonuclease P/MRP subunit p30 RPP30 ribonuclease P protein subunit p30, ribonuclease P/MRP 30kDa subunit TSG15 Yes No Comparative Toxicogenomics Database:10556, Ensembl:ENSG00000148688, GeneCard:RPP30, HGNC:HGNC:17688, HumanCyc Gene:HS07551, ModBase:P78346, NCBI Gene:10556, OMIM:606115, RefSeq DNA:NT_030059, RefSeq Protein:NP_001098016, RefSeq Protein:NP_006404, RefSeq RNA:NM_001104546, RefSeq RNA:NM_006413, UniProtKB:P78346 No chr10 92631709 92668312 90859062 90908558 +PA134957031 10557 HGNC:30329 ENSG00000152464 ribonuclease P/MRP subunit p38 RPP38 ribonuclease P/MRP 38kDa subunit Yes No Comparative Toxicogenomics Database:10557, Ensembl:ENSG00000152464, GeneCard:RPP38, HGNC:HGNC:30329, HumanCyc Gene:HS07822, ModBase:P78345, NCBI Gene:10557, OMIM:606116, RefSeq DNA:NT_008705, RefSeq Protein:NP_001091059, RefSeq Protein:NP_006405, RefSeq Protein:NP_892117, RefSeq RNA:NM_001097590, RefSeq RNA:NM_006414, RefSeq RNA:NM_183005, UniProtKB:P78345 No chr10 15139179 15146256 15097180 15104257 +PA134911809 10799 HGNC:20992 ENSG00000124787 ribonuclease P/MRP subunit p40 RPP40 ribonuclease P/MRP 40kDa subunit RNASEP1, bA428J1.3 Yes No Comparative Toxicogenomics Database:10799, Ensembl:ENSG00000124787, GeneCard:RPP40, HGNC:HGNC:20992, HumanCyc Gene:HS04834, NCBI Gene:10799, OMIM:606117, RefSeq DNA:NT_007592, RefSeq Protein:NP_006629, RefSeq RNA:NM_006638, UniProtKB:O75818 No chr6 4995280 5004292 4992405 5004063 +PA134870477 85495 HGNC:19273 ENSG00000277209 ribonuclease P RNA component H1 RPPH1 H1RNA, RPPH1-1 Yes No Ensembl:ENSG00000277209, GeneCard:RPPH1, HGNC:HGNC:19273, HumanCyc Gene:HS11834, NCBI Gene:85495, OMIM:608513, RefSeq DNA:NT_026437, RefSeq RNA:NR_002312 No chr14 20811230 20811570 20343071 20343411 +PA162402042 55197 HGNC:25560 ENSG00000141425 regulation of nuclear pre-mRNA domain containing 1A RPRD1A Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein), cyclin-dependent kinase 2B-inhibitor-related protein FLJ10656, HsT3101, P15RS Yes No Ensembl:ENSG00000141425, GeneCard:RPRD1A, HGNC:HGNC:25560, HumanCyc Gene:HS06825, ModBase:Q96P16, NCBI Gene:55197, OMIM:610347, RefSeq DNA:NT_010966, RefSeq Protein:NP_060640, RefSeq RNA:NM_018170, UniProtKB:Q96P16 No chr18 33569787 33647538 35982385 36067594 +PA162402043 58490 HGNC:16209 ENSG00000101413 regulation of nuclear pre-mRNA domain containing 1B RPRD1B Ku70-binding protein 5-Hera, cell-cycle related and expression-elevated protein in tumor C20orf77, CREPT, DKFZp434P0735, FLJ44520, K-H, Kub5-Hera, NET60, dJ1057B20.2 Yes No Ensembl:ENSG00000101413, GeneCard:RPRD1B, HGNC:HGNC:16209, HumanCyc Gene:HS12455, ModBase:Q9NQG5, NCBI Gene:58490, RefSeq DNA:NT_011362, RefSeq Protein:NP_067038, RefSeq RNA:NM_021215, UniProtKB:Q9NQG5 No chr20 36661864 36756182 38033462 38092366 +PA162402062 23248 HGNC:29039 ENSG00000163125 regulation of nuclear pre-mRNA domain containing 2 RPRD2 FLJ32145, HSPC099, KIAA0460 Yes No Ensembl:ENSG00000163125, GeneCard:RPRD2, HGNC:HGNC:29039, ModBase:Q9P0D7, NCBI Gene:23248, RefSeq DNA:NT_004487, RefSeq Protein:NP_056018, RefSeq RNA:NM_015203, UniProtKB:Q5VT52 No chr1 150336624 150449042 150364111 150476566 +PA134937494 56475 HGNC:24201 ENSG00000177519 reprimo, TP53 dependent G2 arrest mediator homolog RPRM """candidate mediator of the p53 dependent G2 arrest"", ""reprimo, TP53 dependent G2 arrest mediator candidate""" FLJ90327, REPRIMO Yes No Comparative Toxicogenomics Database:56475, Ensembl:ENSG00000177519, GeneCard:RPRM, HGNC:HGNC:24201, HumanCyc Gene:HS11180, NCBI Gene:56475, OMIM:612171, RefSeq DNA:NT_005403, RefSeq Protein:NP_062819, RefSeq RNA:NM_019845, UniProtKB:Q9NS64 No chr2 154333852 154335322 153477338 153478808 +PA142670990 388394 HGNC:32422 ENSG00000179673 reprimo like RPRML reprimo-like MGC43894 Yes No Ensembl:ENSG00000179673, GeneCard:RPRML, HGNC:HGNC:32422, NCBI Gene:388394, RefSeq DNA:NT_010783, RefSeq Protein:NP_981945, RefSeq RNA:NM_203400, UniProtKB:Q8N4K4 No chr17 45055522 45056614 46978156 46979248 +PA34779 6204 HGNC:10383 ENSG00000124614 ribosomal protein S10 RPS10 MGC88819, S10, eS10 Yes No Comparative Toxicogenomics Database:6204, Ensembl:ENSG00000124614, GenAtlas:RPS10, GeneCard:RPS10, HGNC:HGNC:10383, HumanCyc Gene:HS04807, ModBase:P46783, NCBI Gene:6204, OMIM:603632, OMIM:613308, RefSeq DNA:NG_023200, RefSeq DNA:NT_007592, RefSeq DNA:NT_079596, RefSeq Protein:NP_001005, RefSeq Protein:NP_001190174, RefSeq Protein:NP_001191020, RefSeq RNA:NM_001014, RefSeq RNA:NM_001203245, RefSeq RNA:NM_001204091, UCSC Genome Browser:NM_001014, UniProtKB:P46783 No chr6 34385231 34393902 34417454 34426125 +PA134981586 394255 HGNC:13981 ribosomal protein S10 pseudogene 1 RPS10P1 RPS10p, dJ34B20.13 Yes No GeneCard:RPS10P1, HGNC:HGNC:13981, NCBI Gene:394255, RefSeq DNA:NG_001335, RefSeq DNA:NT_007592 No chr6 26202351 26202943 26202123 26202715 +PA34781 140758 HGNC:16594 ENSG00000213950 ribosomal protein S10 pseudogene 2 RPS10P2 dJ858M22.1 Yes No Ensembl:ENSG00000213950, GenAtlas:RPS10P2, GeneCard:RPS10P2, HGNC:HGNC:16594, NCBI Gene:140758, RefSeq DNA:NG_001001, RefSeq DNA:NT_011387 No chr20 14738179 14738764 14757533 14758118 +PA142670986 158104 HGNC:23684 ENSG00000217716 ribosomal protein S10 pseudogene 3 RPS10P3 Yes No Ensembl:ENSG00000217716, GeneCard:RPS10P3, HGNC:HGNC:23684, NCBI Gene:158104, RefSeq DNA:NG_009716, RefSeq DNA:NT_008470 No chr9 90631177 90631765 88016262 88016850 +PA142670987 728791 HGNC:31364 ribosomal protein S10 pseudogene 4 RPS10P4 bcm1851 Yes No GeneCard:RPS10P4, HGNC:HGNC:31364, NCBI Gene:728791, RefSeq DNA:NG_009545, RefSeq DNA:NT_005612 No chr3 113569035 113569617 113850188 113850770 +PA34780 93144 HGNC:15795 ENSG00000101278 ribosomal protein S10 pseudogene 5 RPS10P5 bA371L19.2 Yes No Ensembl:ENSG00000101278, GenAtlas:RPS10L, GeneCard:RPS10P5, HGNC:HGNC:15795, NCBI Gene:93144, RefSeq DNA:NG_000952, RefSeq DNA:NT_011387, UCSC Genome Browser:NM_080567 No chr20 820044 820663 839401 840020 +PA34782 6205 HGNC:10384 ENSG00000142534 ribosomal protein S11 RPS11 40S ribosomal protein S11 S11, uS17 Yes No Comparative Toxicogenomics Database:6205, Ensembl:ENSG00000142534, GenAtlas:RPS11, GeneCard:RPS11, HGNC:HGNC:10384, HumanCyc Gene:HS06933, ModBase:P62280, NCBI Gene:6205, OMIM:180471, RefSeq DNA:NT_011109, RefSeq Protein:NP_001006, RefSeq RNA:NM_001015, UCSC Genome Browser:NM_001015, UniProtKB:P62280 No chr19 49999622 50002969 49496365 49499712 +PA34783 128718 HGNC:16553 ENSG00000235544 ribosomal protein S11 pseudogene 1 RPS11P1 dJ1060K6.1 Yes No Ensembl:ENSG00000235544, GenAtlas:RPS11P1, GeneCard:RPS11P1, HGNC:HGNC:16553, NCBI Gene:128718, RefSeq DNA:NG_000972, RefSeq DNA:NT_011387 No chr20 11326031 11326503 11345383 11345855 +PA34784 6206 HGNC:10385 ENSG00000112306 ribosomal protein S12 RPS12 S12, eS12 Yes No Comparative Toxicogenomics Database:6206, Ensembl:ENSG00000112306, GenAtlas:RPS12, GeneCard:RPS12, HGNC:HGNC:10385, HumanCyc Gene:HS03556, ModBase:P25398, NCBI Gene:6206, OMIM:603660, RefSeq DNA:NT_025741, RefSeq Protein:NP_001007, RefSeq RNA:NM_001016, UCSC Genome Browser:NM_001016, UniProtKB:P25398 No chr6 133135708 133142007 132814569 132817564 +PA134971204 326312 HGNC:19787 ribosomal protein S12 pseudogene 1 RPS12P1 Yes No GeneCard:RPS12P1, HGNC:HGNC:19787, NCBI Gene:326312, RefSeq DNA:NG_002564, RefSeq DNA:NT_026437 No chr14 73430455 73430761 72963747 72964053 +PA142670988 619448 HGNC:24221 ENSG00000234319 ribosomal protein S12 pseudogene 2 RPS12P2 bA40F6.3 Yes No Ensembl:ENSG00000234319, GeneCard:RPS12P2, HGNC:HGNC:24221, NCBI Gene:619448, RefSeq DNA:NG_009566, RefSeq DNA:NT_030059 No chr10 81975607 81975875 80215851 80216119 +PA34785 6207 HGNC:10386 ENSG00000110700 ribosomal protein S13 RPS13 40S ribosomal protein S13 S13, uS15 Yes No Comparative Toxicogenomics Database:6207, Ensembl:ENSG00000110700, GenAtlas:RPS13, GeneCard:RPS13, HGNC:HGNC:10386, HumanCyc Gene:HS03329, ModBase:P62277, NCBI Gene:6207, OMIM:180476, RefSeq DNA:NT_009237, RefSeq Protein:NP_001008, RefSeq RNA:NM_001017, UCSC Genome Browser:NM_001017, UniProtKB:P62277 No chr11 17095939 17099220 17074392 17077673 +PA34786 6208 HGNC:10387 ENSG00000164587 ribosomal protein S14 RPS14 40S ribosomal protein S14, emetine resistance EMTB, S14, uS11 Yes No Comparative Toxicogenomics Database:6208, Ensembl:ENSG00000164587, GenAtlas:RPS14, GeneCard:RPS14, HGNC:HGNC:10387, HumanCyc Gene:HS09096, ModBase:P62263, NCBI Gene:6208, OMIM:130620, OMIM:153550, RefSeq DNA:NT_029289, RefSeq Protein:NP_001020241, RefSeq Protein:NP_001020242, RefSeq Protein:NP_005608, RefSeq RNA:NM_001025070, RefSeq RNA:NM_001025071, RefSeq RNA:NM_005617, UCSC Genome Browser:NM_005617, UniProtKB:P62263 No chr5 149822712 149829351 150444229 150449810 +PA34787 6209 HGNC:10388 ENSG00000115268 ribosomal protein S15 RPS15 40S ribosomal protein S15, homolog of rat insulinoma, insulinoma protein MGC111130, RIG, S15, uS19 Yes No Comparative Toxicogenomics Database:6209, Ensembl:ENSG00000115268, GenAtlas:RPS15, GeneCard:RPS15, HGNC:HGNC:10388, ModBase:P62841, NCBI Gene:6209, OMIM:180535, RefSeq DNA:NG_017014, RefSeq DNA:NT_011255, RefSeq Protein:NP_001009, RefSeq RNA:NM_001018, UCSC Genome Browser:NM_001018, UniProtKB:P62841 No chr19 1438363 1440494 1438364 1440497 +PA34788 6210 HGNC:10389 ENSG00000134419 ribosomal protein S15a RPS15A S15A, uS8 Yes No Comparative Toxicogenomics Database:6210, Ensembl:ENSG00000134419, GenAtlas:RPS15A, GeneCard:RPS15A, HGNC:HGNC:10389, HumanCyc Gene:HS05867, ModBase:P62244, NCBI Gene:6210, OMIM:603674, RefSeq DNA:NT_010393, RefSeq Protein:NP_001010, RefSeq Protein:NP_001025180, RefSeq RNA:NM_001019, RefSeq RNA:NM_001030009, UCSC Genome Browser:NM_001019, UniProtKB:B2R4W8, UniProtKB:P62244 No chr16 18794277 18801656 18782955 18790334 +PA34789 92682 HGNC:16598 ENSG00000214535 ribosomal protein S15a pseudogene 1 RPS15AP1 dJ872K7.6 Yes No Ensembl:ENSG00000214535, GenAtlas:RPS15AP1, GeneCard:RPS15AP1, HGNC:HGNC:16598, NCBI Gene:92682, RefSeq DNA:NG_000951, RefSeq DNA:NT_011387 No chr20 21146805 21147254 21166165 21166614 +PA134981648 326316 HGNC:19671 ribosomal protein S15a pseudogene 2 RPS15AP2 Yes No GeneCard:RPS15AP2, HGNC:HGNC:19671, NCBI Gene:326316, RefSeq DNA:NG_002566, RefSeq DNA:NT_026437 No chr14 50519954 50520315 50053236 50053597 +PA134874099 326317 HGNC:19674 ENSG00000214903 ribosomal protein S15a pseudogene 3 RPS15AP3 Yes No Ensembl:ENSG00000214903, GeneCard:RPS15AP3, HGNC:HGNC:19674, NCBI Gene:326317, RefSeq DNA:NG_002567, RefSeq DNA:NT_026437 No chr14 47913274 47913727 47444071 47444524 +PA142670984 654371 HGNC:23559 ribosomal protein S15a pseudogene 4 RPS15AP4 Yes No GeneCard:RPS15AP4, HGNC:HGNC:23559, NCBI Gene:654371, RefSeq DNA:NG_009527, RefSeq DNA:NT_026437 No chr14 61068824 61069269 60602106 60602551 +PA134871905 414230 HGNC:23743 ENSG00000223540 ribosomal protein S15a pseudogene 5 RPS15AP5 Em:AC025947.3 Yes No Ensembl:ENSG00000223540, GeneCard:RPS15AP5, HGNC:HGNC:23743, NCBI Gene:414230, RefSeq DNA:NG_009526, RefSeq DNA:NT_030059 No chr10 123473091 123473551 121713577 121714037 +PA34796 6217 HGNC:10396 ENSG00000105193 ribosomal protein S16 RPS16 40S ribosomal protein S16 S16, uS9 Yes No Comparative Toxicogenomics Database:6217, Ensembl:ENSG00000105193, GenAtlas:RPS16, GeneCard:RPS16, HGNC:HGNC:10396, HumanCyc Gene:HS02687, ModBase:P62249, NCBI Gene:6217, OMIM:603675, RefSeq DNA:NT_011109, RefSeq Protein:NP_001011, RefSeq RNA:NM_001020, UCSC Genome Browser:NM_001020, UniProtKB:P62249 No chr19 39923847 39926660 39433137 39436020 +PA34797 6218 HGNC:10397 ENSG00000182774, ENSG00000184779 ribosomal protein S17 RPS17 MGC72007, RPS17L, RPS17L1, RPS17L2, S17, eS17 Yes No Comparative Toxicogenomics Database:6218, Ensembl:ENSG00000182774, Ensembl:ENSG00000184779, GenAtlas:RPS17, GeneCard:RPS17, HGNC:HGNC:10397, ModBase:P08708, NCBI Gene:6218, OMIM:180472, OMIM:612527, RefSeq DNA:NG_009890, RefSeq DNA:NT_010194, RefSeq Protein:NP_001012, RefSeq RNA:NM_001021, UCSC Genome Browser:NM_001021, UniProtKB:P08708 No chr15 82821161 82824865 82536750 82540544 +PA134895048 442195 HGNC:13982 ENSG00000213900 ribosomal protein S17 pseudogene 1 RPS17P1 RPS17p, dJ994E9.1 Yes No Ensembl:ENSG00000213900, GeneCard:RPS17P1, HGNC:HGNC:13982, NCBI Gene:442195, RefSeq DNA:NG_008917, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 29456978 29457470 29489203 29489693 +PA34799 6219 HGNC:10398 ENSG00000197575 ribosomal protein S17 pseudogene 2 RPS17P2 Yes No Ensembl:ENSG00000197575, GenAtlas:RPS17P2, GeneCard:RPS17P2, HGNC:HGNC:10398, NCBI Gene:6219, RefSeq DNA:NG_003033, RefSeq DNA:NT_034772 No chr5 116051914 116052392 116716218 116716696 +PA34800 646013 HGNC:10399 ribosomal protein S17 pseudogene 3 RPS17P3 Yes No GenAtlas:RPS17P3, GeneCard:RPS17P3, HGNC:HGNC:10399, NCBI Gene:646013, RefSeq DNA:NG_009636, RefSeq DNA:NT_010799 No chr17 29157895 29158378 30830877 30831360 +PA34801 6222 HGNC:10401 ENSG00000096150, ENSG00000223367, ENSG00000226225, ENSG00000231500, ENSG00000235650 ribosomal protein S18 RPS18 D6S218E, HKE3, KE-3, KE3, S18, uS13 Yes No Comparative Toxicogenomics Database:6222, Ensembl:ENSG00000096150, Ensembl:ENSG00000223367, Ensembl:ENSG00000226225, Ensembl:ENSG00000231500, Ensembl:ENSG00000235650, GenAtlas:RPS18, GeneCard:RPS18, HGNC:HGNC:10401, HumanCyc Gene:HS01850, ModBase:P62269, NCBI Gene:6222, OMIM:180473, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_072045, RefSeq RNA:NM_022551, UCSC Genome Browser:NM_022551, UniProtKB:P62269, UniProtKB:Q5SUJ3 No chr6 33239852 33244281 33272075 33276504 +PA34802 128676 HGNC:16550 ENSG00000225831 ribosomal protein S18 pseudogene 1 RPS18P1 dJ1022P6.1 Yes No Ensembl:ENSG00000225831, GenAtlas:RPS18P1, GeneCard:RPS18P1, HGNC:HGNC:16550, NCBI Gene:128676, RefSeq DNA:NG_000970, RefSeq DNA:NT_011387 No chr20 5513524 5513981 5532878 5533335 +PA134989528 326320 HGNC:19801 ribosomal protein S18 pseudogene 2 RPS18P2 Yes No GeneCard:RPS18P2, HGNC:HGNC:19801, NCBI Gene:326320, RefSeq DNA:NG_002570, RefSeq DNA:NT_026437 No chr14 91232839 91233371 90766495 90767027 +PA34803 6223 HGNC:10402 ENSG00000105372 ribosomal protein S19 RPS19 Diamond-Blackfan anemia DBA, LOH19CR1, S19, eS19 Yes No Comparative Toxicogenomics Database:6223, Ensembl:ENSG00000105372, GenAtlas:RPS19, GeneCard:RPS19, HGNC:HGNC:10402, HumanCyc Gene:HS02723, ModBase:P39019, NCBI Gene:6223, OMIM:105650, OMIM:603474, RefSeq DNA:NG_007080, RefSeq DNA:NT_011109, RefSeq Protein:NP_001013, RefSeq RNA:NM_001022, UCSC Genome Browser:NM_001022, UniProtKB:B0ZBD0, UniProtKB:P39019 No chr19 42363988 42375484 41859918 41871416 +PA143485599 91582 HGNC:28749 ENSG00000187051 ribosomal protein S19 binding protein 1 RPS19BP1 AROS, FLJ21770, MGC52010 Yes No Comparative Toxicogenomics Database:91582, Ensembl:ENSG00000187051, GeneCard:RPS19BP1, HGNC:HGNC:28749, NCBI Gene:91582, OMIM:610225, RefSeq DNA:NT_011520, RefSeq Protein:NP_919307, RefSeq RNA:NM_194326, UniProtKB:Q86WX3 No chr22 39925098 39928860 39529093 39532855 +PA34804 85486 HGNC:16534 ENSG00000214612 ribosomal protein S19 pseudogene 1 RPS19P1 bA189K21.7 Yes No Ensembl:ENSG00000214612, GenAtlas:RPS19P1, GeneCard:RPS19P1, HGNC:HGNC:16534, NCBI Gene:85486, RefSeq DNA:NG_001295, RefSeq DNA:NT_011387 No chr20 18485225 18485748 18504581 18505104 +PA34805 85487 HGNC:17047 ribosomal protein S19 pseudogene 2 RPS19P2 Yes No GenAtlas:RPS19P2, GeneCard:RPS19P2, HGNC:HGNC:17047, NCBI Gene:85487, RefSeq DNA:NG_001296, RefSeq DNA:NT_032977 No chr1 113711611 113712051 113168989 113169429 +PA142670985 728953 HGNC:23560 ENSG00000240463 ribosomal protein S19 pseudogene 3 RPS19P3 Yes No Ensembl:ENSG00000240463, GeneCard:RPS19P3, HGNC:HGNC:23560, NCBI Gene:728953, RefSeq DNA:NG_009541, RefSeq DNA:NT_026437 No chr14 35037858 35038375 34568652 34569169 +PA34806 6187 HGNC:10404 ENSG00000140988 ribosomal protein S2 RPS2 LLREP3, S2, uS5 Yes No Comparative Toxicogenomics Database:6187, Ensembl:ENSG00000140988, GenAtlas:RPS2, GeneCard:RPS2, HGNC:HGNC:10404, HumanCyc Gene:HS06785, ModBase:P15880, NCBI Gene:6187, OMIM:603624, RefSeq DNA:NT_010393, RefSeq Protein:NP_002943, RefSeq RNA:NM_002952, UCSC Genome Browser:NM_002952, UniProtKB:P15880 No chr16 2012059 2014827 1962061 1964826 +PA34807 6224 HGNC:10405 ENSG00000008988 ribosomal protein S20 RPS20 S20, uS10 Yes No Comparative Toxicogenomics Database:6224, Ensembl:ENSG00000008988, GenAtlas:RPS20, GeneCard:RPS20, HGNC:HGNC:10405, HumanCyc Gene:HS00259, ModBase:P60866, NCBI Gene:6224, OMIM:603682, RefSeq DNA:NT_008183, RefSeq Protein:NP_001014, RefSeq Protein:NP_001139699, RefSeq RNA:NM_001023, RefSeq RNA:NM_001146227, UCSC Genome Browser:NM_001023, UniProtKB:B4DW28, UniProtKB:P60866 No chr8 56980739 56987140 56068180 56074581 +PA34808 54025 HGNC:10408 ENSG00000229761 ribosomal protein S20 pseudogene 1 RPS20P1 Yes No Ensembl:ENSG00000229761, GenAtlas:RPS20P1, GeneCard:RPS20P1, HGNC:HGNC:10408, NCBI Gene:54025, RefSeq DNA:NG_000906, RefSeq DNA:NT_011512 No chr21 37097006 37097464 35724708 35725166 +PA34809 64726 HGNC:14195 ENSG00000219274 ribosomal protein S20 pseudogene 2 RPS20P2 Yes No Ensembl:ENSG00000219274, GenAtlas:RPS20P2, GeneCard:RPS20P2, HGNC:HGNC:14195, NCBI Gene:64726, RefSeq DNA:NG_009635, RefSeq DNA:NT_010393 No chr16 1378627 1379810 1328626 1329809 +PA34810 6225 HGNC:10406 ribosomal protein S20 pseudogene 3 RPS20P3 Yes No GenAtlas:RPS20P3, GeneCard:RPS20P3, HGNC:HGNC:10406, NCBI Gene:6225, OMIM:180463, RefSeq DNA:NG_003034, RefSeq DNA:NT_034772 No chr5 107929185 107929701 108593484 108594003 +PA34811 6226 HGNC:10407 ENSG00000241907 ribosomal protein S20 pseudogene 4 RPS20P4 Yes No Ensembl:ENSG00000241907, GenAtlas:RPS20P4, GeneCard:RPS20P4, HGNC:HGNC:10407, NCBI Gene:6226, OMIM:180464, RefSeq DNA:NG_003035, RefSeq DNA:NT_029289 No chr5 149401090 149401616 150021527 150022053 +PA34812 6227 HGNC:10409 ENSG00000171858 ribosomal protein S21 RPS21 8.2 kDa differentiation factor S21, eS21 Yes No Comparative Toxicogenomics Database:6227, Ensembl:ENSG00000171858, GenAtlas:RPS21, GeneCard:RPS21, HGNC:HGNC:10409, HumanCyc Gene:HS10401, NCBI Gene:6227, OMIM:180477, RefSeq DNA:NT_011362, RefSeq Protein:NP_001015, RefSeq RNA:NM_001024, UCSC Genome Browser:NM_001024, UniProtKB:P63220, UniProtKB:Q6FGH5 No chr20 60962121 60963576 62387065 62388520 +PA34813 6228 HGNC:10410 ENSG00000186468 ribosomal protein S23 RPS23 S23, uS12 Yes No Comparative Toxicogenomics Database:6228, Ensembl:ENSG00000186468, GenAtlas:RPS23, GeneCard:RPS23, HGNC:HGNC:10410, HumanCyc Gene:HS09044, ModBase:P62266, NCBI Gene:6228, OMIM:603683, RefSeq DNA:NT_006713, RefSeq Protein:NP_001016, RefSeq RNA:NM_001025, UCSC Genome Browser:NM_001025, UniProtKB:A8K517, UniProtKB:P62266 No chr5 81569139 81574235 82273320 82278416 +PA34814 93948 HGNC:16043 ENSG00000243504 ribosomal protein S23 pseudogene 1 RPS23P1 Yes No Ensembl:ENSG00000243504, GenAtlas:RPS23P1, GeneCard:RPS23P1, HGNC:HGNC:16043, NCBI Gene:93948, RefSeq DNA:NG_000953, RefSeq DNA:NT_008046 No chr8 98877253 98877757 97865025 97865529 +PA34815 6229 HGNC:10411 ENSG00000138326 ribosomal protein S24 RPS24 S24, eS24 Yes No Comparative Toxicogenomics Database:6229, Ensembl:ENSG00000138326, GenAtlas:RPS24, GeneCard:RPS24, HGNC:HGNC:10411, HumanCyc Gene:HS06486, ModBase:P62847, NCBI Gene:6229, OMIM:602412, OMIM:610629, RefSeq DNA:NG_012633, RefSeq DNA:NT_030059, RefSeq Protein:NP_001017, RefSeq Protein:NP_001135754, RefSeq Protein:NP_001135755, RefSeq Protein:NP_001135756, RefSeq Protein:NP_001135757, RefSeq Protein:NP_148982, RefSeq RNA:NM_001026, RefSeq RNA:NM_001142282, RefSeq RNA:NM_001142283, RefSeq RNA:NM_001142284, RefSeq RNA:NM_001142285, RefSeq RNA:NM_033022, UCSC Genome Browser:NM_001026, UniProtKB:P62847, UniProtKB:Q5T0P7, UniProtKB:Q5T0P8 No chr10 79793518 79816571 78033760 78056813 +PA34816 23756 HGNC:10412 ENSG00000236477 ribosomal protein S24 pseudogene 1 RPS24P1 Yes No Ensembl:ENSG00000236477, GenAtlas:RPS24P1, GeneCard:RPS24P1, HGNC:HGNC:10412, NCBI Gene:23756, RefSeq DNA:NG_000893, RefSeq DNA:NT_011875 No chrY 14365450 14372828 12244745 12252124 +PA134887639 326321 HGNC:19791 ribosomal protein S24 pseudogene 2 RPS24P2 Yes No GeneCard:RPS24P2, HGNC:HGNC:19791, NCBI Gene:326321, RefSeq DNA:NG_002571, RefSeq DNA:NT_026437 No chr14 76062072 76062586 75595729 75596243 +PA134945355 326322 HGNC:19797 ribosomal protein S24 pseudogene 3 RPS24P3 Yes No GeneCard:RPS24P3, HGNC:HGNC:19797, NCBI Gene:326322, RefSeq DNA:NG_002572, RefSeq DNA:NT_026437 No chr14 81799181 81799737 81332837 81333393 +PA34817 6230 HGNC:10413 ENSG00000118181 ribosomal protein S25 RPS25 S25, eS25 Yes No Comparative Toxicogenomics Database:6230, Ensembl:ENSG00000118181, GenAtlas:RPS25, GeneCard:RPS25, HGNC:HGNC:10413, HumanCyc Gene:HS04197, NCBI Gene:6230, OMIM:180465, RefSeq DNA:NT_033899, RefSeq Protein:NP_001019, RefSeq RNA:NM_001028, UCSC Genome Browser:NM_001028, UniProtKB:P62851 No chr11 118886422 118889057 119015712 119018347 +PA34818 6231 HGNC:10414 ENSG00000197728 ribosomal protein S26 RPS26 40S ribosomal protein S26 S26, eS26 Yes No Comparative Toxicogenomics Database:6231, Ensembl:ENSG00000197728, GenAtlas:RPS26, GeneCard:RPS26, HGNC:HGNC:10414, HumanCyc Gene:HS04866, HumanCyc Gene:HS06528, HumanCyc Gene:HS11538, NCBI Gene:6231, OMIM:603701, OMIM:613309, RefSeq DNA:NG_023201, RefSeq DNA:NT_029419, RefSeq DNA:NT_079596, RefSeq DNA:NT_167251, RefSeq Protein:NP_001020, RefSeq RNA:NM_001029, UCSC Genome Browser:NM_001029, UniProtKB:P62854 No chr12 56435686 56438007 56041902 56044223 +PA34819 54024 HGNC:10415 ribosomal protein S26 pseudogene 1 RPS26P1 Yes No GenAtlas:RPS26P1, GeneCard:RPS26P1, HGNC:HGNC:10415, NCBI Gene:54024, RefSeq DNA:NG_000905, RefSeq DNA:NT_011512 No chr21 37676184 37676301 36303886 36304003 +PA142670977 401470 HGNC:32201 ribosomal protein S26 pseudogene 10 RPS26P10 Yes No GeneCard:RPS26P10, HGNC:HGNC:32201, NCBI Gene:401470, RefSeq DNA:NG_005790, RefSeq DNA:NT_008046 No chr8 93156235 93156687 92144007 92144459 +PA142670971 441502 HGNC:31817 ENSG00000196933 ribosomal protein S26 pseudogene 11 RPS26P11 bA366E13.1 Yes No Ensembl:ENSG00000196933, HGNC:HGNC:31817, NCBI Gene:441502, RefSeq DNA:NT_011669, RefSeq RNA:NR_002309 No chrX 71264259 71264824 72044409 72044974 +PA142670972 646753 HGNC:23662 ENSG00000233278 ribosomal protein S26 pseudogene 2 RPS26P2 bA98O11.1 Yes No Ensembl:ENSG00000233278, GeneCard:RPS26P2, HGNC:HGNC:23662, NCBI Gene:646753, RefSeq DNA:NG_009772, RefSeq DNA:NT_008413 No chr9 30831807 30832247 30831809 30832249 +PA142670973 441386 HGNC:23411 ENSG00000212829 ribosomal protein S26 pseudogene 3 RPS26P3 bA338L20.1 Yes No Ensembl:ENSG00000212829, GeneCard:RPS26P3, HGNC:HGNC:23411, NCBI Gene:441386, RefSeq DNA:NG_004800, RefSeq DNA:NT_008413 No chr9 9090873 9091312 9090874 9091312 +PA142670974 692146 HGNC:23775 ENSG00000228349 ribosomal protein S26 pseudogene 4 RPS26P4 Yes No Ensembl:ENSG00000228349, GeneCard:RPS26P4, HGNC:HGNC:23775, NCBI Gene:692146, RefSeq DNA:NG_005578, RefSeq DNA:NT_011512 No chr21 40863402 40863844 39491476 39491918 +PA134887357 387495 HGNC:23776 ENSG00000224602 ribosomal protein S26 pseudogene 5 RPS26P5 Yes No Ensembl:ENSG00000224602, GeneCard:RPS26P5, HGNC:HGNC:23776, NCBI Gene:387495, RefSeq DNA:NG_009769, RefSeq DNA:NT_011512 No chr21 17493563 17493985 16121243 16121665 +PA134920714 392256 HGNC:31090 ENSG00000212994 ribosomal protein S26 pseudogene 6 RPS26P6 Yes No Ensembl:ENSG00000212994, GeneCard:RPS26P6, HGNC:HGNC:31090, NCBI Gene:392256, RefSeq DNA:NG_003189, RefSeq DNA:NT_008046 No chr8 101907964 101908430 100895740 100896202 +PA142670975 619443 HGNC:20077 ribosomal protein S26 pseudogene 7 RPS26P7 HsT24280 Yes No GeneCard:RPS26P7, HGNC:HGNC:20077, NCBI Gene:619443, RefSeq DNA:NG_009773, RefSeq DNA:NT_008183 No chr8 59500890 59501347 58588335 58588788 +PA142670976 644191 HGNC:31329 ENSG00000204652 ribosomal protein S26 pseudogene 8 RPS26P8 Yes No Ensembl:ENSG00000204652, GeneCard:RPS26P8, HGNC:HGNC:31329, NCBI Gene:644191, RefSeq DNA:NG_009394, RefSeq DNA:NT_010783, RefSeq DNA:NT_167251 No chr17 43685906 43686369 45608540 45609003 +PA134891457 446209 HGNC:31821 ribosomal protein S26 pseudogene 9 RPS26P9 Yes No GeneCard:RPS26P9, HGNC:HGNC:31821, NCBI Gene:446209, RefSeq DNA:NG_009962, RefSeq DNA:NT_026437 No chr14 21084803 21085150 20616644 20616991 +PA34820 6232 HGNC:10416 ENSG00000177954 ribosomal protein S27 RPS27 metallopanstimulin 1 MPS-1, MPS1, S27, eS27 Yes No Comparative Toxicogenomics Database:6232, Ensembl:ENSG00000177954, GenAtlas:RPS27, GeneCard:RPS27, HGNC:HGNC:10416, HumanCyc Gene:HS05335, HumanCyc Gene:HS11233, ModBase:P42677, NCBI Gene:6232, OMIM:603702, RefSeq DNA:NT_004487, RefSeq DNA:NT_079595, RefSeq Protein:NP_001021, RefSeq RNA:NM_001030, UCSC Genome Browser:NM_001030, UniProtKB:P42677, UniProtKB:Q5T4L6 No chr1 153963239 153964631 153990763 153992155 +PA34821 6233 HGNC:10417 ENSG00000143947 ribosomal protein S27a RPS27A ubiquitin carboxyl extension protein 80 S27A, UBCEP80, Uba80, eS31 Yes No Comparative Toxicogenomics Database:6233, Ensembl:ENSG00000143947, GenAtlas:RPS27A, GeneCard:RPS27A, HGNC:HGNC:10417, HumanCyc Gene:HS11442, NCBI Gene:6233, OMIM:191343, RefSeq DNA:NG_017017, RefSeq DNA:NT_022184, RefSeq Protein:NP_001129064, RefSeq Protein:NP_001170884, RefSeq Protein:NP_002945, RefSeq RNA:NM_001135592, RefSeq RNA:NM_001177413, RefSeq RNA:NM_002954, UCSC Genome Browser:NM_002954, UniProtKB:B2RDW1, UniProtKB:P62979 No chr2 55459039 55462989 55231903 55235853 +PA34822 103911 HGNC:17121 ENSG00000242692 ribosomal protein S27a pseudogene 1 RPS27AP1 RPS27AP Yes No Ensembl:ENSG00000242692, GenAtlas:RPS27AP1, GeneCard:RPS27AP1, HGNC:HGNC:17121, NCBI Gene:103911, RefSeq DNA:NG_000960, RefSeq DNA:NT_010718 No chr17 10162030 10162579 10258713 10259262 +PA34823 140752 HGNC:16572 ENSG00000232333 ribosomal protein S27a pseudogene 2 RPS27AP2 dJ531H16.4 Yes No Ensembl:ENSG00000232333, GenAtlas:RPS27AP2, GeneCard:RPS27AP2, HGNC:HGNC:16572, NCBI Gene:140752, RefSeq DNA:NG_000995, RefSeq DNA:NT_011387 No chr20 17497446 17497987 17516793 17517342 +PA34824 140714 HGNC:16538 ENSG00000226144 ribosomal protein S27a pseudogene 3 RPS27AP3 bA332A4.3 Yes No Ensembl:ENSG00000226144, GenAtlas:RPS27AP3, GeneCard:RPS27AP3, HGNC:HGNC:16538, NCBI Gene:140714, RefSeq DNA:NG_000985, RefSeq DNA:NT_011362 No chr20 35677641 35678154 37049238 37049751 +PA134985969 326323 HGNC:19775 ribosomal protein S27a pseudogene 4 RPS27AP4 Yes No GeneCard:RPS27AP4, HGNC:HGNC:19775, NCBI Gene:326323, RefSeq DNA:NG_002573, RefSeq DNA:NT_026437 No chr14 27727892 27728398 27258686 27259192 +PA38546 51065 HGNC:18476 ENSG00000185088 ribosomal protein S27 like RPS27L ribosomal protein S27-like Yes No Comparative Toxicogenomics Database:51065, Ensembl:ENSG00000185088, GenAtlas:RPS27L, GeneCard:RPS27L, HGNC:HGNC:18476, ModBase:Q71UM5, NCBI Gene:51065, OMIM:612055, RefSeq DNA:NT_010194, RefSeq Protein:NP_057004, RefSeq RNA:NM_015920, UCSC Genome Browser:NM_015920, UniProtKB:Q71UM5 No chr15 63445539 63449741 63153340 63157542 +PA134861469 414228 HGNC:23740 ENSG00000223876 ribosomal protein S27 pseudogene 1 RPS27P1 bA108M11.3 Yes No Ensembl:ENSG00000223876, GeneCard:RPS27P1, HGNC:HGNC:23740, NCBI Gene:414228, RefSeq DNA:NG_010089, RefSeq DNA:NT_030059 No chr10 93304615 93304845 91544858 91545088 +PA142670978 654390 HGNC:31035 ribosomal protein S27 pseudogene 2 RPS27P2 HsT16324 Yes No GeneCard:RPS27P2, HGNC:HGNC:31035, NCBI Gene:654390, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446 No chr15 25155861 25156404 24910714 24911257 +PA142670979 654365 HGNC:17445 ribosomal protein S27 pseudogene 3 RPS27P3 Yes No GeneCard:RPS27P3, HGNC:HGNC:17445, NCBI Gene:654365, RefSeq DNA:NG_005391, RefSeq DNA:NT_009759 No chr12 3320772 3321117 3211606 3211951 +PA142670980 389112 HGNC:16694 ribosomal protein S27 pseudogene 4 RPS27P4 Yes No GeneCard:RPS27P4, HGNC:HGNC:16694, NCBI Gene:389112, RefSeq DNA:NG_005671, RefSeq DNA:NT_022517 No chr3 40803003 40803347 40761512 40761856 +PA34825 6234 HGNC:10418 ENSG00000233927 ribosomal protein S28 RPS28 40S ribosomal protein S28 S28, eS28 Yes No Comparative Toxicogenomics Database:6234, Ensembl:ENSG00000233927, GenAtlas:RPS28, GeneCard:RPS28, HGNC:HGNC:10418, ModBase:P62857, NCBI Gene:6234, OMIM:603685, RefSeq DNA:NT_077812, RefSeq Protein:NP_001022, RefSeq RNA:NM_001031, UCSC Genome Browser:NM_001031, UniProtKB:B2R4R9, UniProtKB:P62857 No chr19 8386384 8387280 8321500 8322396 +PA142670981 652980 HGNC:23561 ENSG00000270912 ribosomal protein S28 pseudogene 1 RPS28P1 Yes No Ensembl:ENSG00000270912, GeneCard:RPS28P1, HGNC:HGNC:23561, NCBI Gene:652980, RefSeq DNA:NG_005981, RefSeq DNA:NT_026437 No chr14 64275153 64276034 63808435 63809316 +PA34826 6235 HGNC:10419 ENSG00000213741 ribosomal protein S29 RPS29 S29, uS14 Yes No Comparative Toxicogenomics Database:6235, Ensembl:ENSG00000213741, GenAtlas:RPS29, GeneCard:RPS29, HGNC:HGNC:10419, ModBase:P62273, NCBI Gene:6235, OMIM:603633, RefSeq DNA:NT_026437, RefSeq Protein:NP_001023, RefSeq Protein:NP_001025172, RefSeq RNA:NM_001030001, RefSeq RNA:NM_001032, UCSC Genome Browser:NM_001032, UniProtKB:A8MZ73, UniProtKB:P62273 No chr14 50043390 50053134 49576672 49586416 +PA134861675 122449 HGNC:19783 ENSG00000242293 ribosomal protein S29 pseudogene 1 RPS29P1 Yes No Ensembl:ENSG00000242293, GeneCard:RPS29P1, HGNC:HGNC:19783, NCBI Gene:122449, RefSeq DNA:NG_002523, RefSeq DNA:NT_026437 No chr14 69489778 69490062 69023061 69023345 +PA142670982 619452 HGNC:31083 ENSG00000239281 ribosomal protein S29 pseudogene 2 RPS29P2 HsT23291 Yes No Ensembl:ENSG00000239281, GeneCard:RPS29P2, HGNC:HGNC:31083, NCBI Gene:619452, RefSeq DNA:NG_009781, RefSeq DNA:NT_167187 No chr8 41128923 41129178 41271404 41271659 +PA142670983 642892 HGNC:31363 ENSG00000225770 ribosomal protein S29 pseudogene 3 RPS29P3 bcm2758 Yes No Ensembl:ENSG00000225770, GeneCard:RPS29P3, HGNC:HGNC:31363, NCBI Gene:642892, RefSeq DNA:NG_009392, RefSeq DNA:NT_029928 No chr3 196263366 196263663 196536495 196536792 +PA34828 140755 HGNC:16580 ENSG00000225246 ribosomal protein S2 pseudogene 1 RPS2P1 dJ64K7.1 Yes No Ensembl:ENSG00000225246, GenAtlas:RPS2P1, GeneCard:RPS2P1, HGNC:HGNC:16580, NCBI Gene:140755, RefSeq DNA:NG_000998, RefSeq DNA:NT_011362 No chr20 32710152 32711148 34122346 34123342 +PA134961179 326325 HGNC:19790 ENSG00000177776 ribosomal protein S2 pseudogene 2 RPS2P2 Yes No Ensembl:ENSG00000177776, GeneCard:RPS2P2, HGNC:HGNC:19790, NCBI Gene:326325, RefSeq DNA:NG_002575, RefSeq DNA:NT_026437 No chr14 74844378 74845326 74377675 74378623 +PA134953101 326326 HGNC:19806 ribosomal protein S2 pseudogene 3 RPS2P3 Yes No GeneCard:RPS2P3, HGNC:HGNC:19806, NCBI Gene:326326, RefSeq DNA:NG_002576, RefSeq DNA:NT_026437 No chr14 100440625 100441370 99974290 99975033 +PA134952866 92427 HGNC:19814 ENSG00000196183 ribosomal protein S2 pseudogene 4 RPS2P4 Yes No Ensembl:ENSG00000196183, GeneCard:RPS2P4, HGNC:HGNC:19814, NCBI Gene:92427, RefSeq DNA:NG_002522, RefSeq DNA:NT_026437 No chr14 105302281 105303244 104835944 104836907 +PA142670991 100130562 HGNC:31386 ENSG00000240342 ribosomal protein S2 pseudogene 5 RPS2P5 bcm384 Yes No Ensembl:ENSG00000240342, GeneCard:RPS2P5, HGNC:HGNC:31386, NCBI Gene:100130562, RefSeq DNA:NG_009505, RefSeq DNA:NT_009775 No chr12 118683866 118684816 118246061 118247011 +PA134863394 342808 HGNC:25485 ENSG00000214255 ribosomal protein S2 pseudogene 6 RPS2P6 Yes No Ensembl:ENSG00000214255, GeneCard:RPS2P6, HGNC:HGNC:25485, NCBI Gene:342808, RefSeq DNA:NG_005666, RefSeq DNA:NT_025028 No chr18 68097446 68098397 70430210 70431161 +PA34827 86781 HGNC:15838 ENSG00000235508 ribosomal protein S2 pseudogene 7 RPS2P7 dJ688G8.1 Yes No Ensembl:ENSG00000235508, GenAtlas:RPS2L1, GeneCard:RPS2P7, HGNC:HGNC:15838, NCBI Gene:86781, RefSeq DNA:NG_000946, RefSeq DNA:NT_011362, UCSC Genome Browser:NM_080566 No chr20 44269090 44270032 45640451 45641393 +PA34829 6188 HGNC:10420 ENSG00000149273 ribosomal protein S3 RPS3 40S ribosomal protein S3, IMR-90 ribosomal protein S3 FLJ26283, FLJ27450, MGC87870, S3, uS3 Yes No Comparative Toxicogenomics Database:6188, Ensembl:ENSG00000149273, GenAtlas:RPS3, GeneCard:RPS3, HGNC:HGNC:10420, HumanCyc Gene:HS07599, ModBase:P23396, NCBI Gene:6188, OMIM:600454, RefSeq DNA:NT_167190, RefSeq Protein:NP_000996, RefSeq RNA:NM_001005, UCSC Genome Browser:NM_001005, UniProtKB:P23396 No chr11 75110535 75133346 75399491 75422302 +PA34830 6189 HGNC:10421 ENSG00000145425 ribosomal protein S3A RPS3A MFTL, S3A, eS1 Yes No Comparative Toxicogenomics Database:6189, Ensembl:ENSG00000145425, GenAtlas:RPS3A, GeneCard:RPS3A, HGNC:HGNC:10421, HumanCyc Gene:HS07254, NCBI Gene:6189, OMIM:180478, RefSeq DNA:NT_016354, RefSeq DNA:NT_079595, RefSeq Protein:NP_000997, RefSeq RNA:NM_001006, UCSC Genome Browser:NM_001006, UniProtKB:P61247 No chr4 152020725 152025804 151099573 151104652 +PA34831 54023 HGNC:10422 ENSG00000233206 ribosomal protein S3A pseudogene 1 RPS3AP1 Yes No Ensembl:ENSG00000233206, GenAtlas:RPS3AP1, GeneCard:RPS3AP1, HGNC:HGNC:10422, NCBI Gene:54023, RefSeq DNA:NG_000904, RefSeq DNA:NT_011512 No chr21 +PA34832 64725 HGNC:14196 ENSG00000219027 ribosomal protein S3A pseudogene 2 RPS3AP2 Yes No Ensembl:ENSG00000219027, GenAtlas:RPS3AP2, GeneCard:RPS3AP2, HGNC:HGNC:14196, NCBI Gene:64725, RefSeq DNA:NG_009483, RefSeq DNA:NT_010393 No chr16 1527984 1528591 1477983 1478590 +PA34833 140713 HGNC:16537 ENSG00000231241 ribosomal protein S3A pseudogene 3 RPS3AP3 bA332A4.2 Yes No Ensembl:ENSG00000231241, GenAtlas:RPS3AP3, GeneCard:RPS3AP3, HGNC:HGNC:16537, NCBI Gene:140713, RefSeq DNA:NG_000984, RefSeq DNA:NT_011362 No chr20 35650146 35650412 37021743 37022009 +PA142670992 100132142 HGNC:23562 ENSG00000259105 ribosomal protein S3A pseudogene 4 RPS3AP4 Yes No Ensembl:ENSG00000259105, GeneCard:RPS3AP4, HGNC:HGNC:23562, NCBI Gene:100132142, RefSeq DNA:NG_009528, RefSeq DNA:NG_009833, RefSeq DNA:NT_026437 No chr14 35937453 35938606 35468247 35469400 +PA134961974 439992 HGNC:23744 ENSG00000178429 ribosomal protein S3A pseudogene 5 RPS3AP5 bA486O22.3 Yes No Ensembl:ENSG00000178429, GeneCard:RPS3AP5, HGNC:HGNC:23744, NCBI Gene:439992, RefSeq DNA:NG_009792, RefSeq DNA:NT_030059 No chr10 86320175 86321062 84560419 84561306 +PA142670993 145767 HGNC:18630 ENSG00000234797 ribosomal protein S3A pseudogene 6 RPS3AP6 Yes No Ensembl:ENSG00000234797, GeneCard:RPS3AP6, HGNC:HGNC:18630, NCBI Gene:145767, RefSeq DNA:NG_004861, RefSeq DNA:NT_010194 No chr15 60060529 60061387 59768330 59769188 +PA34835 140754 HGNC:16579 ENSG00000230935 ribosomal protein S3 pseudogene 1 RPS3P1 dJ631M13.3 Yes No Ensembl:ENSG00000230935, GenAtlas:RPS3P1, GeneCard:RPS3P1, HGNC:HGNC:16579, NCBI Gene:140754, RefSeq DNA:NG_000997, RefSeq DNA:NT_011387 No chr20 13984155 13984346 14003509 14003700 +PA34836 140761 HGNC:16603 ENSG00000231307 ribosomal protein S3 pseudogene 2 RPS3P2 dJ927M24.3 Yes No Ensembl:ENSG00000231307, GenAtlas:RPS3P2, GeneCard:RPS3P2, HGNC:HGNC:16603, NCBI Gene:140761, RefSeq DNA:NG_001004, RefSeq DNA:NT_011362 No chr20 37166393 37167102 38537750 38538459 +PA34839 6191 HGNC:10424 ENSG00000198034 ribosomal protein S4 X-linked RPS4X """40S ribosomal protein S4, X isoform"", ""cell cycle gene 2"", ""ribosomal protein S4, X-linked"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA""" CCG2, DXS306, FLJ40595, RPS4, S4, SCAR, SCR10, eS4 Yes No Comparative Toxicogenomics Database:6191, Ensembl:ENSG00000198034, GenAtlas:RPS4X, GeneCard:RPS4X, HGNC:HGNC:10424, NCBI Gene:6191, OMIM:312760, RefSeq DNA:NG_012524, RefSeq DNA:NT_011669, RefSeq Protein:NP_000998, RefSeq RNA:NM_001007, UCSC Genome Browser:NM_001007, UniProtKB:B2R491, UniProtKB:P62701 No chrX 71492453 71497141 72272603 72277291 +PA142670994 400064 HGNC:32444 ENSG00000214203 ribosomal protein S4X pseudogene 1 RPS4XP1 Yes No Ensembl:ENSG00000214203, HGNC:HGNC:32444, NCBI Gene:400064, RefSeq DNA:NG_009506, RefSeq DNA:NT_019546 No chr12 100402765 100403672 100008987 100009894 +PA34838 92507 HGNC:16563 ENSG00000226948 ribosomal protein S4X pseudogene 2 RPS4XP2 dJ189G13.2 Yes No Ensembl:ENSG00000226948, GenAtlas:RPS4L2, GeneCard:RPS4XP2, HGNC:HGNC:16563, NCBI Gene:92507, RefSeq DNA:NG_000950, RefSeq DNA:NT_011387 No chr20 4610254 4610865 4629423 4630222 +PA34837 128580 HGNC:16251 ENSG00000214541 ribosomal protein S4X pseudogene 3 RPS4XP3 dJ843L14.2 Yes No Ensembl:ENSG00000214541, GenAtlas:RPS4L, GeneCard:RPS4XP3, HGNC:HGNC:16251, NCBI Gene:128580, RefSeq DNA:NG_000967, RefSeq DNA:NT_011362 No chr20 55176722 55177115 56601666 56602059 +PA34840 6192 HGNC:10425 ENSG00000129824 ribosomal protein S4 Y-linked 1 RPS4Y1 """40S ribosomal protein S4, Y"", ""ribosomal protein S4, Y-linked 1"", ""ribosomal protein S4Y""" MGC119100, MGC5070, RPS4Y, S4 Yes No Ensembl:ENSG00000129824, GenAtlas:RPS4Y1, GeneCard:RPS4Y1, HGNC:HGNC:10425, HumanCyc Gene:HS05311, NCBI Gene:6192, OMIM:470000, RefSeq DNA:NT_011896, RefSeq Protein:NP_000999, RefSeq RNA:NM_001008, UCSC Genome Browser:NM_001008, UniProtKB:P22090 No chrY 2709623 2734997 2841582 2866956 +PA38563 140032 HGNC:18501 ENSG00000280969 ribosomal protein S4 Y-linked 2 RPS4Y2 ribosomal protein S4, Y-linked 2 RPS4Y2P Yes No Ensembl:ENSG00000280969, GenAtlas:RPS4Y2, GeneCard:RPS4Y2, HGNC:HGNC:18501, HumanCyc Gene:HS08244, NCBI Gene:140032, OMIM:400030, RefSeq DNA:NT_011875, RefSeq Protein:NP_001034656, RefSeq RNA:NM_001039567, UCSC Genome Browser:NM_138963, UniProtKB:Q8TD47 No chrY 22917954 22942918 20756068 20781032 +PA34841 6193 HGNC:10426 ENSG00000083845 ribosomal protein S5 RPS5 40S ribosomal protein S5 S5, uS7 Yes No Comparative Toxicogenomics Database:6193, Ensembl:ENSG00000083845, GenAtlas:RPS5, GeneCard:RPS5, HGNC:HGNC:10426, HumanCyc Gene:HS01459, ModBase:P46782, NCBI Gene:6193, OMIM:603630, RefSeq DNA:NT_011109, RefSeq Protein:NP_001000, RefSeq RNA:NM_001009, UCSC Genome Browser:NM_001009, UniProtKB:P46782 No chr19 58898636 58906171 58387269 58394804 +PA34843 26516 HGNC:10428 ribosomal protein S5 pseudogene 1 RPS5P1 Yes No GenAtlas:RPS5P1, GeneCard:RPS5P1, HGNC:HGNC:10428, NCBI Gene:26516, RefSeq DNA:NG_000896, RefSeq DNA:NT_025741 No chr6 116579608 116580350 116258445 116259187 +PA134989526 100130240 HGNC:17222 ENSG00000224598 ribosomal protein S5 pseudogene 2 RPS5P2 Yes No Ensembl:ENSG00000224598, GeneCard:RPS5P2, HGNC:HGNC:17222, NCBI Gene:100130240, RefSeq DNA:NG_009782, RefSeq DNA:NT_011512 No chr21 35507682 35508428 34135382 34136128 +PA34842 54022 HGNC:10427 ENSG00000215088 ribosomal protein S5 pseudogene 3 RPS5P3 Yes No Ensembl:ENSG00000215088, GenAtlas:RPS5L, GeneCard:RPS5P3, HGNC:HGNC:10427, NCBI Gene:54022, RefSeq DNA:NG_000903, RefSeq DNA:NT_011512 No chr21 34853846 34854569 33481539 33482262 +PA34844 6194 HGNC:10429 ENSG00000137154 ribosomal protein S6 RPS6 40S ribosomal protein S6, phosphoprotein NP33 S6, eS6 Yes No Comparative Toxicogenomics Database:6194, Ensembl:ENSG00000137154, GenAtlas:RPS6, GeneCard:RPS6, HGNC:HGNC:10429, HumanCyc Gene:HS06278, ModBase:P62753, NCBI Gene:6194, OMIM:180460, RefSeq DNA:NT_008413, RefSeq Protein:NP_001001, RefSeq RNA:NM_001010, UCSC Genome Browser:NM_001010, UniProtKB:A2A3R6, UniProtKB:P62753 No chr9 19376253 19380272 19376256 19380237 +PA34845 6195 HGNC:10430 ENSG00000117676 ribosomal protein S6 kinase A1 RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 HU-1, MAPKAPK1, RSK, RSK1, p90Rsk Yes No Comparative Toxicogenomics Database:6195, Ensembl:ENSG00000117676, GenAtlas:RPS6KA1, GeneCard:RPS6KA1, HGNC:HGNC:10430, HumanCyc Gene:HS04164, ModBase:Q15418, NCBI Gene:6195, OMIM:601684, RefSeq DNA:NT_004610, RefSeq Protein:NP_001006666, RefSeq Protein:NP_002944, RefSeq RNA:NM_001006665, RefSeq RNA:NM_002953, UCSC Genome Browser:NM_002953, UniProtKB:A6NGG4, UniProtKB:Q15418 No chr1 26856249 26901520 26529758 26575029 +PA34846 6196 HGNC:10431 ENSG00000071242 ribosomal protein S6 kinase A2 RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 HU-2, RSK, RSK3 Yes No Comparative Toxicogenomics Database:6196, Ensembl:ENSG00000071242, GenAtlas:RPS6KA2, GeneCard:RPS6KA2, HGNC:HGNC:10431, HumanCyc Gene:HS01028, ModBase:Q15349, NCBI Gene:6196, OMIM:601685, RefSeq DNA:NT_025741, RefSeq Protein:NP_001006933, RefSeq Protein:NP_066958, RefSeq RNA:NM_001006932, RefSeq RNA:NM_021135, UCSC Genome Browser:NM_021135, UniProtKB:B3KTK9, UniProtKB:Q15349 No chr6 166822854 167275948 166409364 166862551 +PA34847 6197 HGNC:10432 ENSG00000177189 ribosomal protein S6 kinase A3 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 CLS, HU-3, MRX19, RSK, RSK2 Yes No Comparative Toxicogenomics Database:6197, Ensembl:ENSG00000177189, GenAtlas:RPS6KA3, GeneCard:RPS6KA3, HGNC:HGNC:10432, HumanCyc Gene:HS11136, ModBase:P51812, NCBI Gene:6197, OMIM:300075, OMIM:303600, RefSeq DNA:NG_007488, RefSeq DNA:NT_167197, RefSeq Protein:NP_004577, RefSeq RNA:NM_004586, UCSC Genome Browser:NM_004586, UniProtKB:P51812 No chrX 20168029 20285523 20149911 20267514 +PA34848 8986 HGNC:10433 ENSG00000162302 ribosomal protein S6 kinase A4 RPS6KA4 ribosomal protein S6 kinase, 90kDa, polypeptide 4 MSK2, RSK-B Yes No Comparative Toxicogenomics Database:8986, Ensembl:ENSG00000162302, GenAtlas:RPS6KA4, GeneCard:RPS6KA4, HGNC:HGNC:10433, HumanCyc Gene:HS08656, ModBase:O75676, NCBI Gene:8986, OMIM:603606, RefSeq DNA:NT_167190, RefSeq Protein:NP_001006945, RefSeq Protein:NP_003933, RefSeq RNA:NM_001006944, RefSeq RNA:NM_003942, UCSC Genome Browser:NM_003942, UniProtKB:A0PJF8, UniProtKB:O75676 No chr11 64126625 64139687 64359153 64372215 +PA34849 9252 HGNC:10434 ENSG00000100784 ribosomal protein S6 kinase A5 RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5 MSK1, RLPK Yes No Comparative Toxicogenomics Database:9252, Ensembl:ENSG00000100784, GenAtlas:RPS6KA5, GeneCard:RPS6KA5, HGNC:HGNC:10434, HumanCyc Gene:HS02144, ModBase:O75582, NCBI Gene:9252, OMIM:603607, RefSeq DNA:NT_026437, RefSeq Protein:NP_004746, RefSeq Protein:NP_872198, RefSeq RNA:NM_004755, RefSeq RNA:NM_182398, UCSC Genome Browser:NM_004755, UniProtKB:O75582, UniProtKB:Q9UG98 No chr14 91335086 91526993 90868122 91060649 +PA34850 27330 HGNC:10435 ENSG00000072133 ribosomal protein S6 kinase A6 RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6 RSK4 Yes No Comparative Toxicogenomics Database:27330, Ensembl:ENSG00000072133, GenAtlas:RPS6KA6, GeneCard:RPS6KA6, HGNC:HGNC:10435, HumanCyc Gene:HS01056, ModBase:Q9UK32, NCBI Gene:27330, OMIM:300303, RefSeq DNA:NG_016340, RefSeq DNA:NT_011651, RefSeq Protein:NP_055311, RefSeq RNA:NM_014496, UCSC Genome Browser:NM_014496, UniProtKB:Q9UK32 No chrX 83313354 83442943 84058346 84187935 +PA34851 6198 HGNC:10436 ENSG00000108443 ribosomal protein S6 kinase B1 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 PS6K, S6K, S6K1, STK14A, p70(S6K)-alpha Yes No Comparative Toxicogenomics Database:6198, Ensembl:ENSG00000108443, GenAtlas:RPS6KB1, GeneCard:RPS6KB1, HGNC:HGNC:10436, HumanCyc Gene:HS03106, ModBase:P23443, NCBI Gene:6198, OMIM:608938, RefSeq DNA:NT_010783, RefSeq Protein:NP_003152, RefSeq RNA:NM_003161, UCSC Genome Browser:NM_003161, UniProtKB:P23443 No chr17 57970407 58027787 59893046 59950426 +PA34852 6199 HGNC:10437 ENSG00000175634 ribosomal protein S6 kinase B2 RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 KLS, P70-BETA, S6KB, S6Kbeta, S6Kβ, S6Kß, STK14B, p70S6Kb Yes No Ensembl:ENSG00000175634, GenAtlas:RPS6KB2, GeneCard:RPS6KB2, HGNC:HGNC:10437, HumanCyc Gene:HS10964, ModBase:Q9UBS0, NCBI Gene:6199, OMIM:608939, RefSeq DNA:NT_167190, RefSeq Protein:NP_003943, RefSeq RNA:NM_003952, UCSC Genome Browser:NM_003952, UniProtKB:Q9UBS0 No chr11 67195935 67202879 67428460 67435408 +PA34854 26750 HGNC:10439 ENSG00000136643 ribosomal protein S6 kinase C1 RPS6KC1 ribosomal protein S6 kinase, 52kDa, polypeptide 1 RSKL1, humS6PKh1 Yes No Ensembl:ENSG00000136643, GenAtlas:RPS6KC1, GeneCard:RPS6KC1, HGNC:HGNC:10439, HumanCyc Gene:HS06192, ModBase:Q96S38, NCBI Gene:26750, RefSeq DNA:NT_167186, RefSeq Protein:NP_001129610, RefSeq Protein:NP_036556, RefSeq RNA:NM_001136138, RefSeq RNA:NM_012424, UCSC Genome Browser:NM_012424, UniProtKB:B1APS8, UniProtKB:Q96S38 No chr1 213224588 213446808 213051233 213378753 +PA134868364 83694 HGNC:20222 ENSG00000198208 ribosomal protein S6 kinase like 1 RPS6KL1 ribosomal protein S6 kinase-like 1 MGC11287, RSKL2 Yes No Comparative Toxicogenomics Database:83694, Ensembl:ENSG00000198208, GeneCard:RPS6KL1, HGNC:HGNC:20222, HumanCyc Gene:HS04329, ModBase:Q9Y6S9, NCBI Gene:83694, RefSeq DNA:NT_026437, RefSeq Protein:NP_113652, RefSeq RNA:NM_031464, UniProtKB:Q9Y6S9 No chr14 75370657 75389985 74903954 74923396 +PA143485598 440086 HGNC:32478 ribosomal protein S6 pseudogene 1 RPS6P1 Yes No GeneCard:RPS6P1, HGNC:HGNC:32478, NCBI Gene:440086, RefSeq DNA:NG_009657, RefSeq DNA:NT_009714 No chr12 13003891 13004685 12850957 12851751 +PA34855 6201 HGNC:10440 ENSG00000171863 ribosomal protein S7 RPS7 S7, eS7 Yes No Comparative Toxicogenomics Database:6201, Ensembl:ENSG00000171863, GenAtlas:RPS7, GeneCard:RPS7, HGNC:HGNC:10440, HumanCyc Gene:HS10405, ModBase:P62081, NCBI Gene:6201, OMIM:603658, OMIM:612563, RefSeq DNA:NG_011744, RefSeq DNA:NT_022139, RefSeq Protein:NP_001002, RefSeq RNA:NM_001011, UCSC Genome Browser:NM_001011, UniProtKB:P62081, UniProtKB:Q57Z92 No chr2 3622853 3628509 3575263 3580919 +PA134952180 388363 HGNC:17081 ENSG00000263266 ribosomal protein S7 pseudogene 1 RPS7P1 Yes No Ensembl:ENSG00000263266, GeneCard:RPS7P1, HGNC:HGNC:17081, NCBI Gene:388363, RefSeq DNA:NG_005669, RefSeq DNA:NT_010799 No chr17 26794796 26795472 28467778 28468454 +PA34856 6202 HGNC:10441 ENSG00000142937 ribosomal protein S8 RPS8 S8, eS8 Yes No Comparative Toxicogenomics Database:6202, Ensembl:ENSG00000142937, GenAtlas:RPS8, GeneCard:RPS8, HGNC:HGNC:10441, HumanCyc Gene:HS06972, ModBase:P62241, NCBI Gene:6202, OMIM:600357, RefSeq DNA:NT_032977, RefSeq Protein:NP_001003, RefSeq RNA:NM_001012, UCSC Genome Browser:NM_001012, UniProtKB:P62241, UniProtKB:Q5JR94 No chr1 45241213 45244427 44775574 44778740 +PA134936663 192133 HGNC:19789 ribosomal protein S8 pseudogene 1 RPS8P1 Yes No GeneCard:RPS8P1, HGNC:HGNC:19789, NCBI Gene:192133, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 106444554 106445256 105978468 105979169 +PA134885934 100132995 HGNC:31000 ENSG00000215457 ribosomal protein S8 pseudogene 3 RPS8P3 HsT2707 Yes No Ensembl:ENSG00000215457, GeneCard:RPS8P3, HGNC:HGNC:31000, NCBI Gene:100132995, RefSeq DNA:NG_010683, RefSeq DNA:NT_010966 No chr18 49371320 49372004 51844950 51845634 +PA134927746 646119 HGNC:17478 ENSG00000227437 ribosomal protein S8 pseudogene 4 RPS8P4 Em:AC012468.5 Yes No Ensembl:ENSG00000227437, GeneCard:RPS8P4, HGNC:HGNC:17478, NCBI Gene:646119, RefSeq DNA:NG_009795, RefSeq DNA:NT_030059 No chr10 121397945 121398646 119638433 119639134 +PA34857 6203 HGNC:10442 ENSG00000170889 ribosomal protein S9 RPS9 40S ribosomal protein S9 S9, uS4 Yes No Comparative Toxicogenomics Database:6203, Ensembl:ENSG00000170889, GenAtlas:RPS9, GeneCard:RPS9, HGNC:HGNC:10442, HumanCyc Gene:HS10198, ModBase:P46781, NCBI Gene:6203, OMIM:603631, RefSeq DNA:NT_011109, RefSeq Protein:NP_001004, RefSeq RNA:NM_001013, UCSC Genome Browser:NM_001013, UniProtKB:A9C4C1, UniProtKB:P46781 No chr19 54704608 54711515 54200557 54207647 +PA34858 8410 HGNC:10443 ENSG00000214889 ribosomal protein S9 pseudogene 1 RPS9P1 Yes No Ensembl:ENSG00000214889, GenAtlas:RPS9P1, GeneCard:RPS9P1, HGNC:HGNC:10443, NCBI Gene:8410, RefSeq DNA:NG_003259, RefSeq DNA:NT_011512 No chr21 37504692 37505404 36132394 36133106 +PA134878063 267009 HGNC:19428 ribosomal protein S9 pseudogene 2 RPS9P2 bA12M9.1 Yes No GeneCard:RPS9P2, HGNC:HGNC:19428, NCBI Gene:267009, RefSeq DNA:NG_002404, RefSeq DNA:NT_011520 No chr22 41460000 41460709 41063996 41064705 +PA30287 3921 HGNC:6502 ENSG00000168028 ribosomal protein SA RPSA 37LRP, LAMR1, LRP, SA, p40, uS2 Yes No Comparative Toxicogenomics Database:3921, Ensembl:ENSG00000168028, GenAtlas:RPSA, GeneCard:RPSA, HGNC:HGNC:6502, HumanCyc Gene:HS09681, ModBase:Q86VC0, NCBI Gene:3921, OMIM:150370, RefSeq DNA:NT_022517, RefSeq Protein:NP_001012321, RefSeq Protein:NP_002286, RefSeq RNA:NM_001012321, RefSeq RNA:NM_002295, UCSC Genome Browser:NM_002295, UniProtKB:P08865 No chr3 39448204 39454033 39406689 39412542 +PA166352086 388524 HGNC:36809 ribosomal protein SA 2 RPSA2 RPSAP58 Yes No HGNC:HGNC:36809, NCBI Gene:388524 No 0 0 0 0 +PA30288 170529 HGNC:16560 ENSG00000228820 ribosomal protein SA pseudogene 1 RPSAP1 dJ1193N1.1 Yes No Ensembl:ENSG00000228820, GenAtlas:RPSAP1, GeneCard:RPSAP1, HGNC:HGNC:16560, NCBI Gene:170529, RefSeq DNA:NG_001045, RefSeq DNA:NT_011362 No chr20 49747241 49748280 51130704 51131743 +PA143485601 401638 HGNC:31460 ENSG00000224439 ribosomal protein SA pseudogene 10 RPSAP10 LAMR1P10 Yes No Ensembl:ENSG00000224439, GeneCard:RPSAP10, HGNC:HGNC:31460, NCBI Gene:401638, RefSeq DNA:NG_009741, RefSeq DNA:NT_008705 No chr10 28725055 28726080 28436126 28437151 +PA30289 645326 HGNC:6503 ENSG00000237433 ribosomal protein SA pseudogene 11 RPSAP11 LAMR, LAMRP1 Yes No Ensembl:ENSG00000237433, GenAtlas:RPSAP11, GeneCard:RPSAP11, HGNC:HGNC:6503, NCBI Gene:645326, RefSeq DNA:NG_006441, RefSeq DNA:NT_022517 No chr3 32232163 32233189 32190671 32191697 +PA30290 387867 HGNC:6504 ENSG00000240087 ribosomal protein SA pseudogene 12 RPSAP12 LAMRP2 Yes No Ensembl:ENSG00000240087, GenAtlas:RPSAP12, GeneCard:RPSAP12, HGNC:HGNC:6504, NCBI Gene:387867, RefSeq DNA:NG_010141, RefSeq DNA:NT_029419 No chr12 68946705 68947738 68552925 68553958 +PA30291 3923 HGNC:6505 ENSG00000233924 ribosomal protein SA pseudogene 13 RPSAP13 LAMRP3 Yes No Ensembl:ENSG00000233924, GenAtlas:RPSAP13, GeneCard:RPSAP13, HGNC:HGNC:6505, NCBI Gene:3923, RefSeq DNA:NG_010441, RefSeq DNA:NT_026437 No chr14 55471473 55472481 55004755 55005763 +PA30292 3924 HGNC:6506 ENSG00000233984 ribosomal protein SA pseudogene 14 RPSAP14 LAMRP4 Yes No Ensembl:ENSG00000233984, GenAtlas:RPSAP14, GeneCard:RPSAP14, HGNC:HGNC:6506, NCBI Gene:3924, RefSeq DNA:NG_004075, RefSeq DNA:NT_011669 No chrX 73251296 73251674 74031461 74031839 +PA134944504 220885 HGNC:31464 ENSG00000237506 ribosomal protein SA pseudogene 15 RPSAP15 LAMRL5 Yes No Ensembl:ENSG00000237506, GeneCard:RPSAP15, HGNC:HGNC:31464, NCBI Gene:220885, RefSeq DNA:NG_011100, RefSeq DNA:NT_011651 No chrX 86958273 86959306 87703273 87704306 +PA134969997 442181 HGNC:18771 ENSG00000237425 ribosomal protein SA pseudogene 2 RPSAP2 bA60E24.1 Yes No Ensembl:ENSG00000237425, GeneCard:RPSAP2, HGNC:HGNC:18771, NCBI Gene:442181, RefSeq DNA:NG_009790, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249 No chr6 28699716 28700751 28731939 28732974 +PA134959703 158674 HGNC:19792 ENSG00000242952 ribosomal protein SA pseudogene 3 RPSAP3 Yes No Ensembl:ENSG00000242952, GeneCard:RPSAP3, HGNC:HGNC:19792, NCBI Gene:158674, RefSeq DNA:NG_002489, RefSeq DNA:NT_026437 No chr14 77101048 77102083 76634705 76635740 +PA134953408 145259 HGNC:20018 ENSG00000239269 ribosomal protein SA pseudogene 4 RPSAP4 Yes No Ensembl:ENSG00000239269, GeneCard:RPSAP4, HGNC:HGNC:20018, NCBI Gene:145259, RefSeq DNA:NG_002486, RefSeq DNA:NT_026437 No chr14 95192549 95193582 94726212 94727245 +PA134944652 319129 HGNC:20139 ENSG00000243904 ribosomal protein SA pseudogene 5 RPSAP5 Yes No Ensembl:ENSG00000243904, GeneCard:RPSAP5, HGNC:HGNC:20139, NCBI Gene:319129, RefSeq DNA:NG_002507, RefSeq DNA:NT_026437 No chr14 103840300 103841329 103373963 103374992 +PA134937174 414254 HGNC:31458 ENSG00000214629 ribosomal protein SA pseudogene 6 RPSAP6 AC022026.3 Yes No Ensembl:ENSG00000214629, GeneCard:RPSAP6, HGNC:HGNC:31458, NCBI Gene:414254, RefSeq DNA:NG_009794, RefSeq DNA:NT_030059 No chr10 76131211 76132244 74371453 74372486 +PA143485600 654506 HGNC:31461 ENSG00000237032 ribosomal protein SA pseudogene 7 RPSAP7 laminin receptor 1 pseudogene 7 LAMR1P7 Yes No Ensembl:ENSG00000237032, GeneCard:RPSAP7, HGNC:HGNC:31461, NCBI Gene:654506, RefSeq DNA:NG_007324, RefSeq DNA:NT_008705 No chr10 14765098 14766130 14723099 14724138 +PA134925956 643617 HGNC:31462 ENSG00000230592 ribosomal protein SA pseudogene 8 RPSAP8 Yes No Ensembl:ENSG00000230592, GeneCard:RPSAP8, HGNC:HGNC:31462, NCBI Gene:643617, RefSeq DNA:NG_007295, RefSeq DNA:NT_011651 No chrX 99410811 99411848 100155813 100156850 +PA134884534 653162 HGNC:31463 ENSG00000234618 ribosomal protein SA pseudogene 9 RPSAP9 Yes No Ensembl:ENSG00000234618, GeneCard:RPSAP9, HGNC:HGNC:31463, NCBI Gene:653162, RefSeq DNA:NT_008470, RefSeq RNA:NR_026890 No chr9 79013515 79014954 76398599 76400038 +PA142670970 126638 HGNC:26809 ENSG00000215853 repetin RPTN FLJ39117 Yes No Comparative Toxicogenomics Database:126638, Ensembl:ENSG00000215853, GeneCard:RPTN, HGNC:HGNC:26809, ModBase:Q6XPR3, NCBI Gene:126638, OMIM:613259, RefSeq DNA:NT_004487, RefSeq Protein:NP_001116437, RefSeq RNA:NM_001122965, UniProtKB:Q6XPR3 No chr1 152126071 152131704 152153595 152159228 +PA165432629 57521 HGNC:30287 ENSG00000141564 regulatory associated protein of MTOR complex 1 RPTOR """regulatory associated protein of MTOR, complex 1"", ""regulatory associated protein of mTOR""" KIAA1303, KOG1, Mip1, raptor Yes Yes Ensembl:ENSG00000141564, GeneCard:RPTOR, HGNC:HGNC:30287, HumanCyc Gene:HS13893, NCBI Gene:57521, OMIM:607130, RefSeq DNA:NG_013034, RefSeq DNA:NT_010783, RefSeq Protein:NP_001156506, RefSeq Protein:NP_065812, RefSeq RNA:NM_001163034, RefSeq RNA:NM_020761, UniProtKB:Q6DKI0, UniProtKB:Q8N122 No chr17 78518625 78940173 80544825 80966373 +PA25556 113000 HGNC:14173 ENSG00000007376 RNA pseudouridine synthase domain containing 1 RPUSD1 RNA pseudouridylate synthase domain containing 1 C16orf40, MGC19600, RLUCL Yes No Ensembl:ENSG00000007376, GenAtlas:RPUSD1, GeneCard:RPUSD1, HGNC:HGNC:14173, HumanCyc Gene:HS00215, ModBase:Q9UJJ7, NCBI Gene:113000, RefSeq DNA:NT_010393, RefSeq Protein:NP_478072, RefSeq RNA:NM_058192, UniProtKB:Q9UJJ7 No chr16 834974 838383 784974 788383 +PA134866412 27079 HGNC:24180 ENSG00000166133 RNA pseudouridine synthase domain containing 2 RPUSD2 RNA pseudouridylate synthase domain containing 2 C15orf19, C18B11, FLJ31409, PUS9 Yes No Ensembl:ENSG00000166133, GeneCard:RPUSD2, HGNC:HGNC:24180, HumanCyc Gene:HS09334, ModBase:Q8IZ73, NCBI Gene:27079, RefSeq DNA:NT_010194, RefSeq Protein:NP_689473, RefSeq RNA:NM_152260, UniProtKB:Q8IZ73 No chr15 40861503 40866666 40569293 40574706 +PA134924883 285367 HGNC:28437 ENSG00000156990 RNA pseudouridine synthase D3 RPUSD3 RNA pseudouridylate synthase domain containing 3 MGC29784 Yes No Comparative Toxicogenomics Database:285367, Ensembl:ENSG00000156990, GeneCard:RPUSD3, HGNC:HGNC:28437, HumanCyc Gene:HS14646, ModBase:Q6P087, NCBI Gene:285367, RefSeq DNA:NT_022517, RefSeq Protein:NP_001136019, RefSeq Protein:NP_775930, RefSeq RNA:NM_001142547, RefSeq RNA:NM_173659, UniProtKB:A8K773, UniProtKB:Q6P087 No chr3 9879533 9885702 9837849 9844018 +PA134875000 84881 HGNC:25898 ENSG00000165526 RNA pseudouridine synthase D4 RPUSD4 RNA pseudouridylate synthase domain containing 4 FLJ14494 Yes No Comparative Toxicogenomics Database:84881, Ensembl:ENSG00000165526, GeneCard:RPUSD4, HGNC:HGNC:25898, HumanCyc Gene:HS09244, ModBase:Q96CM3, NCBI Gene:84881, RefSeq DNA:NT_033899, RefSeq Protein:NP_001138299, RefSeq Protein:NP_116184, RefSeq RNA:NM_001144827, RefSeq RNA:NM_032795, UniProtKB:Q96CM3 No chr11 126071989 126081587 126202094 126211692 +PA34860 6236 HGNC:10446 ENSG00000166592 RRAD, Ras related glycolysis inhibitor and calcium channel regulator RRAD Ras-related associated with diabetes RAD, REM3 Yes No Comparative Toxicogenomics Database:6236, Ensembl:ENSG00000166592, GenAtlas:RRAD, GeneCard:RRAD, HGNC:HGNC:10446, HumanCyc Gene:HS09425, ModBase:P55042, NCBI Gene:6236, OMIM:179503, RefSeq DNA:NT_010498, RefSeq Protein:NP_001122322, RefSeq Protein:NP_004156, RefSeq RNA:NM_001128850, RefSeq RNA:NM_004165, UCSC Genome Browser:NM_004165, UniProtKB:P55042 No chr16 66955582 66959439 66921679 66925536 +PA134980509 10670 HGNC:16963 ENSG00000155876 Ras related GTP binding A RRAGA Ras-related GTP binding A FIP-1, RAGA Yes No Comparative Toxicogenomics Database:10670, Ensembl:ENSG00000155876, GeneCard:RRAGA, HGNC:HGNC:16963, ModBase:Q7L523, NCBI Gene:10670, OMIM:612194, RefSeq DNA:NT_008413, RefSeq Protein:NP_006561, RefSeq RNA:NM_006570, UniProtKB:Q7L523 No chr9 19049372 19051023 19049374 19051025 +PA134902397 10325 HGNC:19901 ENSG00000083750 Ras related GTP binding B RRAGB Ras-related GTP binding B Yes No Ensembl:ENSG00000083750, GeneCard:RRAGB, HGNC:HGNC:19901, HumanCyc Gene:HS01448, HumanCyc Gene:HS08075, ModBase:Q5VZM2, NCBI Gene:10325, OMIM:300725, RefSeq DNA:NT_011630, RefSeq Protein:NP_006055, RefSeq Protein:NP_057740, RefSeq RNA:NM_006064, RefSeq RNA:NM_016656, UniProtKB:Q5VZM2 No chrX 55744110 55785766 55717677 55760209 +PA134862062 64121 HGNC:19902 ENSG00000116954 Ras related GTP binding C RRAGC Ras-related GTP binding C FLJ13311, GTR2 Yes No Comparative Toxicogenomics Database:64121, Ensembl:ENSG00000116954, GeneCard:RRAGC, HGNC:HGNC:19902, HumanCyc Gene:HS04070, ModBase:Q9HB90, NCBI Gene:64121, OMIM:608267, RefSeq DNA:NT_032977, RefSeq Protein:NP_071440, RefSeq RNA:NM_022157, UniProtKB:Q9HB90 No chr1 39303869 39325495 38838197 38859823 +PA134957148 58528 HGNC:19903 ENSG00000025039 Ras related GTP binding D RRAGD Ras-related GTP binding D DKFZP761H171, bA11D8.2.1 Yes No Comparative Toxicogenomics Database:58528, Ensembl:ENSG00000025039, GeneCard:RRAGD, HGNC:HGNC:19903, HumanCyc Gene:HS00437, ModBase:Q9NQL2, NCBI Gene:58528, OMIM:608268, RefSeq DNA:NT_007299, RefSeq Protein:NP_067067, RefSeq RNA:NM_021244, UniProtKB:Q9NQL2 No chr6 90074335 90121995 89363509 89412470 +PA34861 6237 HGNC:10447 ENSG00000126458 RAS related RRAS Oncogene RRAS, related RAS viral (r-ras) oncogene homolog R-Ras, RRAS1 Yes No Comparative Toxicogenomics Database:6237, Ensembl:ENSG00000126458, GenAtlas:RRAS, GeneCard:RRAS, HGNC:HGNC:10447, HumanCyc Gene:HS05020, ModBase:P10301, NCBI Gene:6237, OMIM:165090, RefSeq DNA:NT_011109, RefSeq Protein:NP_006261, RefSeq RNA:NM_006270, UCSC Genome Browser:NM_006270, UniProtKB:P10301 No chr19 50138552 50143400 49635292 49640143 +PA34862 22800 HGNC:17271 ENSG00000133818 RAS related 2 RRAS2 related RAS viral (r-ras) oncogene homolog 2 TC21 Yes Yes Comparative Toxicogenomics Database:22800, Ensembl:ENSG00000133818, GenAtlas:RRAS2, GeneCard:RRAS2, HGNC:HGNC:17271, HumanCyc Gene:HS05791, ModBase:P62070, NCBI Gene:22800, OMIM:600098, RefSeq DNA:NG_017058, RefSeq DNA:NT_009237, RefSeq Protein:NP_001096139, RefSeq Protein:NP_001170785, RefSeq Protein:NP_001170786, RefSeq Protein:NP_036382, RefSeq RNA:NM_001102669, RefSeq RNA:NM_001177314, RefSeq RNA:NM_001177315, RefSeq RNA:NM_012250, UCSC Genome Browser:NM_012250, UniProtKB:B7Z6C4, UniProtKB:B7Z7H6, UniProtKB:P62070 No chr11 14299466 14386052 14277920 14364506 +PA34863 6238 HGNC:10448 ENSG00000125844 ribosome binding protein 1 RRBP1 endoplasmic reticulum ribosome-binding protein 1, ribosomal receptor-binding protein 1 ES/130, hES, p180 Yes No Comparative Toxicogenomics Database:6238, Ensembl:ENSG00000125844, GenAtlas:RRBP1, GeneCard:RRBP1, HGNC:HGNC:10448, HumanCyc Gene:HS04952, ModBase:Q9H476, NCBI Gene:6238, OMIM:601418, RefSeq DNA:NT_011387, RefSeq Protein:NP_001036041, RefSeq Protein:NP_004578, RefSeq RNA:NM_001042576, RefSeq RNA:NM_004587, UCSC Genome Browser:NM_004587, UniProtKB:Q9P2E9 No chr20 17594323 17662934 17613678 17682283 +PA34864 6239 HGNC:10449 ENSG00000124782 ras responsive element binding protein 1 RREB1 hindsight homolog (drosophila) HNT Yes No Comparative Toxicogenomics Database:6239, Ensembl:ENSG00000124782, GenAtlas:RREB1, GeneCard:RREB1, HGNC:HGNC:10449, HumanCyc Gene:HS04831, ModBase:Q86SU2, NCBI Gene:6239, OMIM:602209, RefSeq DNA:NG_016201, RefSeq DNA:NT_007592, RefSeq Protein:NP_001003698, RefSeq Protein:NP_001003699, RefSeq Protein:NP_001003700, RefSeq Protein:NP_001161816, RefSeq RNA:NM_001003698, RefSeq RNA:NM_001003699, RefSeq RNA:NM_001003700, RefSeq RNA:NM_001168344, UCSC Genome Browser:NM_002955, UniProtKB:Q92766 No chr6 7107830 7252213 7107597 7251980 +PA34865 10692 HGNC:10450 ENSG00000180245 retinal pigment epithelium-derived rhodopsin homolog RRH peropsin Yes No Ensembl:ENSG00000180245, GenAtlas:RRH, GeneCard:RRH, HGNC:HGNC:10450, HumanCyc Gene:HS11475, ModBase:O14718, NCBI Gene:10692, OMIM:605224, RefSeq DNA:NT_016354, RefSeq Protein:NP_006574, RefSeq RNA:NM_006583, UCSC Genome Browser:NM_006583, UniProtKB:O14718 No chr4 110749150 110765863 109827994 109844707 +PA298 6240 HGNC:10451 ENSG00000167325 ribonucleotide reductase catalytic subunit M1 RRM1 ribonucleotide reductase M1 Yes Yes Comparative Toxicogenomics Database:6240, Ensembl:ENSG00000167325, GenAtlas:RRM1, GeneCard:RRM1, HGNC:HGNC:10451, HumanCyc Gene:HS09541, ModBase:P23921, NCBI Gene:6240, OMIM:180410, RefSeq DNA:NT_009237, RefSeq Protein:NP_001024, RefSeq RNA:NM_001033, UCSC Genome Browser:NM_001033, UniProtKB:P23921 No chr11 4115791 4160116 4094685 4138925 +PA299 6241 HGNC:10452 ENSG00000171848 ribonucleotide reductase regulatory subunit M2 RRM2 ribonucleotide reductase M2 C2orf48, FLJ25102 Yes Yes Comparative Toxicogenomics Database:6241, Ensembl:ENSG00000171848, GenAtlas:RRM2, GeneCard:RRM2, HGNC:HGNC:10452, HumanCyc Gene:HS10398, ModBase:P31350, NCBI Gene:6241, OMIM:180390, RefSeq DNA:NT_005334, RefSeq Protein:NP_001025, RefSeq Protein:NP_001159403, RefSeq RNA:NM_001034, RefSeq RNA:NM_001165931, UCSC Genome Browser:NM_001034, UniProtKB:P31350 No chr2 10262695 10271546 10122568 10131419 +PA34866 50484 HGNC:17296 ENSG00000048392 ribonucleotide reductase regulatory TP53 inducible subunit M2B RRM2B ribonucleotide reductase M2 B (TP53 inducible) p53R2 Yes Yes Comparative Toxicogenomics Database:50484, Ensembl:ENSG00000048392, GenAtlas:RRM2B, GeneCard:RRM2B, HGNC:HGNC:17296, HumanCyc Gene:HS00602, ModBase:Q9NTD8, NCBI Gene:50484, OMIM:604712, OMIM:612075, OMIM:613077, RefSeq DNA:NG_016617, RefSeq DNA:NT_008046, RefSeq Protein:NP_001165948, RefSeq Protein:NP_001165949, RefSeq Protein:NP_056528, RefSeq RNA:NM_001172477, RefSeq RNA:NM_001172478, RefSeq RNA:NM_015713, UCSC Genome Browser:NM_015713, UniProtKB:B4E2N4, UniProtKB:Q7LG56 No chr8 103216729 103251346 102204501 102239118 +PA34868 6244 HGNC:10454 ENSG00000236484 ribonucleotide reductase M2 polypeptide pseudogene 2 RRM2P2 Yes No Ensembl:ENSG00000236484, GenAtlas:RRM2P2, GeneCard:RRM2P2, HGNC:HGNC:10454, NCBI Gene:6244, RefSeq DNA:NG_012978, RefSeq DNA:NT_004487 No chr1 161346591 161349160 161376801 161379370 +PA34869 6245 HGNC:10455 ENSG00000214018 ribonucleotide reductase M2 polypeptide pseudogene 3 RRM2P3 Yes No Ensembl:ENSG00000214018, GenAtlas:RRM2P3, GeneCard:RRM2P3, HGNC:HGNC:10455, NCBI Gene:6245, RefSeq DNA:NG_000870, RefSeq DNA:NT_079573 No chrX +PA34870 6246 HGNC:10456 ENSG00000235598 ribonucleotide reductase M2 polypeptide pseudogene 4 RRM2P4 Yes No Ensembl:ENSG00000235598, GenAtlas:RRM2P4, GeneCard:RRM2P4, HGNC:HGNC:10456, NCBI Gene:6246, RefSeq DNA:NG_000871, RefSeq DNA:NT_011786 No chrX 143392258 143392823 144309133 144309698 +PA134878601 54700 HGNC:30346 ENSG00000085721 RRN3 homolog, RNA polymerase I transcription factor RRN3 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae), transcription initiation factor IA DKFZp566E104, TIF-IA Yes No Ensembl:ENSG00000085721, GeneCard:RRN3, HGNC:HGNC:30346, HumanCyc Gene:HS01504, ModBase:Q9NYV6, NCBI Gene:54700, OMIM:605121, RefSeq DNA:NT_010393, RefSeq Protein:NP_060897, RefSeq RNA:NM_018427, UniProtKB:Q9NYV6 No chr16 15153879 15188168 15060022 15094335 +PA162402091 8568 HGNC:18785 ENSG00000160214 ribosomal RNA processing 1 RRP1 """DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"", ""ribosomal RNA processing 1 homolog (S. cerevisiae)""" D21S2056E, NNP-1, NOP52, Nop52, RRP1A Yes No Ensembl:ENSG00000160214, GeneCard:RRP1, HGNC:HGNC:18785, HumanCyc Gene:HS08469, ModBase:P56182, NCBI Gene:8568, OMIM:610653, RefSeq DNA:NT_011515, RefSeq Protein:NP_003674, RefSeq RNA:NM_003683, UniProtKB:P56182 No chr21 45209418 45223983 43789537 43804102 +PA162402122 23223 HGNC:29100 ENSG00000052749 ribosomal RNA processing 12 homolog RRP12 ribosomal RNA processing 12 homolog (S. cerevisiae) KIAA0690 Yes No Ensembl:ENSG00000052749, GeneCard:RRP12, HGNC:HGNC:29100, HumanCyc Gene:HS12128, ModBase:Q5JTH9, NCBI Gene:23223, RefSeq DNA:NT_030059, RefSeq Protein:NP_001138586, RefSeq Protein:NP_055994, RefSeq RNA:NM_001145114, RefSeq RNA:NM_015179, UniProtKB:B3KMR5, UniProtKB:B4DK00, UniProtKB:Q5JTH9 No chr10 99116458 99161127 97356701 97401370 +PA162402123 51018 HGNC:24255 ENSG00000067533 ribosomal RNA processing 15 homolog RRP15 ribosomal RNA processing 15 homolog (S. cerevisiae) CGI-115, KIAA0507 Yes No Ensembl:ENSG00000067533, GeneCard:RRP15, HGNC:HGNC:24255, HumanCyc Gene:HS12188, ModBase:Q9Y3B9, NCBI Gene:51018, OMIM:611193, RefSeq DNA:NT_167186, RefSeq Protein:NP_057136, RefSeq RNA:NM_016052, UniProtKB:Q9Y3B9 No chr1 218458629 218511325 218285270 218337983 +PA162402138 23076 HGNC:23818 ENSG00000160208 ribosomal RNA processing 1B RRP1B """protein phosphatase 1, regulatory subunit 136"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)""" KIAA0179, Nnp1, PPP1R136, RRP1 Yes Yes Ensembl:ENSG00000160208, GeneCard:RRP1B, HGNC:HGNC:23818, NCBI Gene:23076, OMIM:610654, RefSeq DNA:NT_011515, RefSeq Protein:NP_055871, RefSeq RNA:NM_015056, UniProtKB:Q14684 No chr21 45079432 45115960 43659551 43696079 +PA165618219 88745 HGNC:21374 ENSG00000124541 ribosomal RNA processing 36 RRP36 ribosomal RNA processing 36 homolog (S. cerevisiae) C6orf153, dJ20C7.4 Yes No Ensembl:ENSG00000124541, GeneCard:RRP36, HGNC:HGNC:21374, HumanCyc Gene:HS13134, ModBase:Q96EU6, NCBI Gene:88745, OMIM:613475, RefSeq DNA:NT_007592, RefSeq Protein:NP_149103, RefSeq RNA:NM_033112, UniProtKB:Q96EU6 No chr6 42989385 42997337 43021647 43029599 +PA162402175 27341 HGNC:24286 ENSG00000189306 ribosomal RNA processing 7 homolog A RRP7A ribosomal RNA processing 7 homolog A (S. cerevisiae) CGI-96, Rrp7 Yes Yes Ensembl:ENSG00000189306, GeneCard:RRP7A, HGNC:HGNC:24286, HumanCyc Gene:HS02002, ModBase:Q8N5Q3, NCBI Gene:27341, RefSeq DNA:NT_011520, RefSeq Protein:NP_056518, RefSeq RNA:NM_015703, UniProtKB:Q9Y3A4 No chr22 42904341 42915829 42508335 42519823 +PA164725550 23378 HGNC:29030 ENSG00000132275 ribosomal RNA processing 8 RRP8 """RRP8 methyltransferase homolog (S. cerevisiae)"", ""nucleomethylin"", ""ribosomal RNA processing 8, methyltransferase, homolog (yeast)""" KIAA0409, NML Yes No Ensembl:ENSG00000132275, GeneCard:RRP8, HGNC:HGNC:29030, HumanCyc Gene:HS13419, NCBI Gene:23378, RefSeq DNA:NT_009237, RefSeq Protein:NP_056139, RefSeq RNA:NM_015324, UniProtKB:O43159 No chr11 6621144 6624884 6514830 6603678 +PA162402176 9136 HGNC:16829 ENSG00000114767 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein RRP9 ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) RNU3IP2, U3-55K Yes No Ensembl:ENSG00000114767, GeneCard:RRP9, HGNC:HGNC:16829, HumanCyc Gene:HS03795, ModBase:O43818, NCBI Gene:9136, RefSeq DNA:NT_022517, RefSeq Protein:NP_004695, RefSeq RNA:NM_004704, UniProtKB:O43818 No chr3 51967442 51975957 51933426 51941941 +PA134993138 23212 HGNC:17083 ENSG00000179041 ribosome biogenesis regulator 1 homolog RRS1 RRS1 ribosome biogenesis regulator homolog (S. cerevisiae), ribosome biogenesis regulator homolog KIAA0112 Yes No Comparative Toxicogenomics Database:23212, Ensembl:ENSG00000179041, GeneCard:RRS1, HGNC:HGNC:17083, HumanCyc Gene:HS11343, ModBase:Q15050, NCBI Gene:23212, RefSeq DNA:NT_008183, RefSeq Protein:NP_055984, RefSeq RNA:NM_015169, UniProtKB:Q15050 No chr8 67341263 67342968 66429028 66430733 +PA34871 6247 HGNC:10457 ENSG00000102104 retinoschisin 1 RS1 RS, XLRS1 Yes No Comparative Toxicogenomics Database:6247, Ensembl:ENSG00000102104, GenAtlas:RS1, GeneCard:RS1, HGNC:HGNC:10457, HumanCyc Gene:HS02354, ModBase:O15537, NCBI Gene:6247, OMIM:312700, RefSeq DNA:NG_008659, RefSeq DNA:NT_167197, RefSeq Protein:NP_000321, RefSeq RNA:NM_000330, UCSC Genome Browser:NM_000330, UniProtKB:O15537, UniProtKB:Q0QD39 No chrX 18657808 18690223 18639688 18672103 +PA134945325 55316 HGNC:25634 ENSG00000136444 radical S-adenosyl methionine domain containing 1 RSAD1 FLJ11164, HemW Yes No Ensembl:ENSG00000136444, GeneCard:RSAD1, HGNC:HGNC:25634, HumanCyc Gene:HS06160, ModBase:Q9HA92, NCBI Gene:55316, RefSeq DNA:NT_010783, RefSeq Protein:NP_060816, RefSeq RNA:NM_018346, UniProtKB:Q9HA92 No chr17 48556190 48563336 50478800 50485980 +PA134937442 91543 HGNC:30908 ENSG00000134321 radical S-adenosyl methionine domain containing 2 RSAD2 virus-inhibitory protein, endoplasmic reticulum–associated, interferon-inducible cig5, vig1, viperin Yes No Comparative Toxicogenomics Database:91543, Ensembl:ENSG00000134321, GeneCard:RSAD2, HGNC:HGNC:30908, HumanCyc Gene:HS13522, ModBase:Q8WXG1, NCBI Gene:91543, OMIM:607810, RefSeq DNA:NT_005334, RefSeq Protein:NP_542388, RefSeq RNA:NM_080657, UniProtKB:Q8WXG1 No chr2 7017796 7038370 6865733 6898239 +PA134869532 54665 HGNC:25642 ENSG00000081019 round spermatid basic protein 1 RSBN1 FLJ11220, KDM9, ROSBIN Yes Yes Ensembl:ENSG00000081019, GeneCard:RSBN1, HGNC:HGNC:25642, HumanCyc Gene:HS12261, NCBI Gene:54665, RefSeq DNA:NT_032977, RefSeq Protein:NP_060834, RefSeq RNA:NM_018364, UniProtKB:Q5VWQ0 No chr1 114304454 114355070 113761832 113812476 +PA134948776 222194 HGNC:24765 ENSG00000187257 round spermatid basic protein 1 like RSBN1L round spermatid basic protein 1-like FLJ42526, FLJ45813, MGC71764 Yes No Comparative Toxicogenomics Database:222194, Ensembl:ENSG00000187257, GeneCard:RSBN1L, HGNC:HGNC:24765, ModBase:Q6PCB5, NCBI Gene:222194, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_940869, RefSeq RNA:NM_198467, UniProtKB:Q6PCB5 No chr7 77325743 77409120 77696426 77779803 +PA34872 6248 HGNC:10458 ENSG00000215695 regulator of solute carriers 1 RSC1A1 regulatory solute carrier protein, family 1, member 1 RS1 Yes No Ensembl:ENSG00000215695, GenAtlas:RSC1A1, GeneCard:RSC1A1, HGNC:HGNC:10458, ModBase:Q92681, NCBI Gene:6248, OMIM:601966, RefSeq DNA:NT_004610, RefSeq Protein:NP_006502, RefSeq RNA:NM_006511, UCSC Genome Browser:NM_006511, UniProtKB:Q92681 No chr1 15986364 15988217 15659713 15662030 +PA29210 51773 HGNC:18118 ENSG00000048649 remodeling and spacing factor 1 RSF1 HBXAP, RSF-1, XAP8, p325 Yes No Ensembl:ENSG00000048649, GenAtlas:RSF1, GeneCard:RSF1, HGNC:HGNC:18118, HumanCyc Gene:HS00607, ModBase:Q96T23, NCBI Gene:51773, OMIM:608522, RefSeq DNA:NT_167190, RefSeq Protein:NP_057662, RefSeq RNA:NM_016578, UCSC Genome Browser:NM_016578, UniProtKB:Q05DG0, UniProtKB:Q96T23 No chr11 77371047 77531915 77660009 77872232 +PA166181618 124923 HGNC:26314 ENSG00000167524 ribosomal protein S6 kinase related RSKR FLJ25006, SgK494 Yes No Ensembl:ENSG00000167524, HGNC:HGNC:26314, NCBI Gene:124923 No 0 0 0 0 +PA142670966 26156 HGNC:24534 ENSG00000171490 ribosomal L1 domain containing 1 RSL1D1 CSIG, DKFZP564M182, L12, PBK1, UTP30 Yes No Comparative Toxicogenomics Database:26156, Ensembl:ENSG00000171490, GeneCard:RSL1D1, HGNC:HGNC:24534, ModBase:O76021, NCBI Gene:26156, RefSeq DNA:NT_010393, RefSeq Protein:NP_056474, RefSeq RNA:NM_015659, UniProtKB:O76021 No chr16 11928053 11945442 11834196 11851585 +PA164725551 51187 HGNC:18479 ENSG00000137876 ribosomal L24 domain containing 1 RSL24D1 C15orf15, HRP-L30-iso, L30, RPL24, RPL24L Yes No Ensembl:ENSG00000137876, GeneCard:RSL24D1, HGNC:HGNC:18479, HumanCyc Gene:HS06416, NCBI Gene:51187, OMIM:613262, RefSeq DNA:NT_010194, RefSeq Protein:NP_057388, RefSeq RNA:NM_016304, UniProtKB:Q9UHA3 No chr15 55473512 55489231 55181314 55197033 +PA165429097 284288 HGNC:37881 ENSG00000231544 ribosomal L24 domain containing 1 pseudogene 11 RSL24D1P11 Yes No Ensembl:ENSG00000231544, GeneCard:RSL24D1P11, HGNC:HGNC:37881, NCBI Gene:284288, RefSeq DNA:NT_025028, RefSeq Protein:XP_001714705, RefSeq Protein:XP_210365, RefSeq Protein:XP_944340, RefSeq RNA:XM_001714653, RefSeq RNA:XM_210365, RefSeq RNA:XM_939247 No chr18 55505708 55506271 57838476 57839039 +PA34702 140757 HGNC:37876 ENSG00000224452 ribosomal L24 domain containing 1 pseudogene 6 RSL24D1P6 dJ836N17.3 Yes No Ensembl:ENSG00000224452, GenAtlas:RPL24P1, GeneCard:RSL24D1P6, HGNC:HGNC:37876, NCBI Gene:140757, RefSeq DNA:NG_001000, RefSeq DNA:NT_028392 No chr20 30758101 30758581 32170298 32170778 +PA162402177 89765 HGNC:12371 ENSG00000160188 radial spoke head component 1 RSPH1 meichroacidin, radial spoke head 1 homolog (Chlamydomonas) CILD24, FLJ32753, RSP44, RSPH10A, TSGA2 Yes No Ensembl:ENSG00000160188, GeneCard:RSPH1, HGNC:HGNC:12371, HumanCyc Gene:HS08455, ModBase:Q8WYR4, NCBI Gene:89765, OMIM:609314, RefSeq DNA:NT_011515, RefSeq Protein:NP_543136, RefSeq RNA:NM_080860, UniProtKB:Q8WYR4 No chr21 43892596 43916417 42472486 42496354 +PA162402200 222967 HGNC:27362 ENSG00000155026 radial spoke head 10 homolog B RSPH10B radial spoke head 10 homolog B (Chlamydomonas) Yes No Ensembl:ENSG00000155026, GeneCard:RSPH10B, HGNC:HGNC:27362, HumanCyc Gene:HS14549, HumanCyc Gene:HS15773, NCBI Gene:222967, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_775836, RefSeq RNA:NM_173565 No chr7 5965777 6010322 5926136 5970850 +PA162402247 728194 HGNC:34385 ENSG00000169402 radial spoke head 10 homolog B2 RSPH10B2 radial spoke head 10 homolog B2 (Chlamydomonas) Yes No Ensembl:ENSG00000169402, GeneCard:RSPH10B2, HGNC:HGNC:34385, ModBase:B2RC85, NCBI Gene:728194, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001093167, RefSeq RNA:NM_001099697, UniProtKB:B2RC85 No chr7 6793732 6838396 6754109 6798775 +PA34878 27156 HGNC:13437 ENSG00000100218 radial spoke head 14 homolog RSPH14 radial spoke head 14 homolog (Chlamydomonas), rhabdoid tumor deletion region gene 1 RTDR1 Yes Yes Ensembl:ENSG00000100218, GenAtlas:RTDR1, GeneCard:RTDR1, HGNC:HGNC:13437, HumanCyc Gene:HS02004, ModBase:Q9UHP6, NCBI Gene:27156, OMIM:605663, RefSeq DNA:NT_011520, RefSeq Protein:NP_055248, RefSeq RNA:NM_014433, UCSC Genome Browser:NM_014433, UniProtKB:Q9UHP6 No chr22 23401593 23495807 23059408 23180048 +PA162402248 83861 HGNC:21054 ENSG00000130363 radial spoke head 3 RSPH3 radial spoke 3 homolog (Chlamydomonas), radial spoke head 3 homolog RSHL2, RSP3, dJ111C20.1 Yes No Ensembl:ENSG00000130363, GeneCard:RSPH3, HGNC:HGNC:21054, HumanCyc Gene:HS13331, ModBase:Q86UC2, NCBI Gene:83861, RefSeq DNA:NT_025741, RefSeq Protein:NP_114130, RefSeq RNA:NM_031924, UniProtKB:Q86UC2 No chr6 159398077 159421424 158947012 159000432 +PA164725568 345895 HGNC:21558 ENSG00000111834 radial spoke head component 4A RSPH4A radial spoke head 4 homolog A (Chlamydomonas) CILD11, FLJ37974, RSHL3, RSPH6B, dJ412I7.1 Yes No Ensembl:ENSG00000111834, GeneCard:RSPH4A, HGNC:HGNC:21558, NCBI Gene:345895, OMIM:612647, OMIM:612649, RefSeq DNA:NG_012934, RefSeq DNA:NT_025741, RefSeq Protein:NP_001010892, RefSeq Protein:NP_001155136, RefSeq RNA:NM_001010892, RefSeq RNA:NM_001161664, UniProtKB:B3KTA9, UniProtKB:Q5TD94 No chr6 116937642 116954148 116598184 116633051 +PA34873 81492 HGNC:14241 ENSG00000104941 radial spoke head 6 homolog A RSPH6A radial spoke head 6 homolog A (Chlamydomonas) RSHL1, RSP4, RSP6, RSPH4B Yes No Comparative Toxicogenomics Database:81492, Ensembl:ENSG00000104941, GenAtlas:RSHL1, GeneCard:RSHL1, GeneCard:RSPH6A, HGNC:HGNC:14241, HumanCyc Gene:HS02659, ModBase:Q9H0K4, NCBI Gene:81492, OMIM:607548, RefSeq DNA:NT_011109, RefSeq Protein:NP_110412, RefSeq RNA:NM_030785, UCSC Genome Browser:NM_030785, UniProtKB:Q9H0K4 No chr19 46298968 46318605 45795710 45815347 +PA164725569 221421 HGNC:21057 ENSG00000172426 radial spoke head component 9 RSPH9 radial spoke head 9 homolog, radial spoke head 9 homolog (Chlamydomonas) C6orf206, CILD12, FLJ30845, MRPS18AL1 Yes No Ensembl:ENSG00000172426, GeneCard:RSPH9, HGNC:HGNC:21057, HumanCyc Gene:HS16086, ModBase:Q9H1X1, NCBI Gene:221421, OMIM:612648, OMIM:612650, RefSeq DNA:NG_023436, RefSeq DNA:NT_007592, RefSeq Protein:NP_001180270, RefSeq Protein:NP_689945, RefSeq RNA:NM_001193341, RefSeq RNA:NM_152732, UniProtKB:Q9H1X1 No chr6 43612767 43638935 43645030 43671011 +PA142670967 284654 HGNC:21679 ENSG00000169218 R-spondin 1 RSPO1 FLJ40906, RSPONDIN Yes No Ensembl:ENSG00000169218, GeneCard:RSPO1, HGNC:HGNC:21679, HumanCyc Gene:HS15760, ModBase:Q2MKA7, NCBI Gene:284654, OMIM:609595, OMIM:610644, RefSeq DNA:NG_012239, RefSeq DNA:NT_032977, RefSeq Protein:NP_001033722, RefSeq Protein:NP_001229837, RefSeq Protein:NP_001229838, RefSeq Protein:NP_001229839, RefSeq RNA:NM_001038633, RefSeq RNA:NM_001242908, RefSeq RNA:NM_001242909, RefSeq RNA:NM_001242910, UniProtKB:Q2MKA7 No chr1 38076821 38100595 37611350 37634923 +PA142670968 340419 HGNC:28583 ENSG00000147655 R-spondin 2 RSPO2 MGC35555 Yes No Ensembl:ENSG00000147655, GeneCard:RSPO2, HGNC:HGNC:28583, ModBase:Q6UXX9, NCBI Gene:340419, OMIM:610575, RefSeq DNA:NT_008046, RefSeq Protein:NP_848660, RefSeq RNA:NM_178565, UniProtKB:B3KVP3, UniProtKB:Q6UXX9 No chr8 108911544 109095913 107899316 108083685 +PA134885289 84870 HGNC:20866 ENSG00000146374 R-spondin 3 RSPO3 FLJ14440, THSD2 Yes No Comparative Toxicogenomics Database:84870, Ensembl:ENSG00000146374, GeneCard:RSPO3, HGNC:HGNC:20866, HumanCyc Gene:HS14148, ModBase:Q9BXY4, NCBI Gene:84870, OMIM:610574, RefSeq DNA:NT_025741, RefSeq Protein:NP_116173, RefSeq RNA:NM_032784, UniProtKB:Q9BXY4 No chr6 127439844 127520626 127118671 127199481 +PA25726 343637 HGNC:16175 ENSG00000101282 R-spondin 4 RSPO4 C20orf182, dJ824F16.3 Yes No Comparative Toxicogenomics Database:343637, Ensembl:ENSG00000101282, GenAtlas:RSPO4, GeneCard:RSPO4, HGNC:HGNC:16175, ModBase:Q2I0M5, NCBI Gene:343637, OMIM:206800, OMIM:610573, RefSeq DNA:NG_013043, RefSeq DNA:NT_011387, RefSeq Protein:NP_001025042, RefSeq Protein:NP_001035096, RefSeq RNA:NM_001029871, RefSeq RNA:NM_001040007, UniProtKB:Q2I0M5 No chr20 939095 982907 958452 1002264 +PA143485602 89970 HGNC:29420 ENSG00000159579 ring finger and SPRY domain containing 1 RSPRY1 KIAA1972 Yes No Comparative Toxicogenomics Database:89970, Ensembl:ENSG00000159579, GeneCard:RSPRY1, HGNC:HGNC:29420, ModBase:Q96DX4, NCBI Gene:89970, RefSeq DNA:NT_010498, RefSeq Protein:NP_588609, RefSeq RNA:NM_133368, UniProtKB:Q96DX4 No chr16 57220026 57274385 57186284 57240475 +PA142670969 51319 HGNC:24152 ENSG00000174891 arginine and serine rich coiled-coil 1 RSRC1 """arginine/serine-rich coiled-coil 1"", ""splicing factor, arginine/serine-rich 21""" BM-011, MGC12197, SFRS21, SRrp53 Yes No Comparative Toxicogenomics Database:51319, Ensembl:ENSG00000174891, GeneCard:RSRC1, HGNC:HGNC:24152, HumanCyc Gene:HS10843, ModBase:Q96IZ7, NCBI Gene:51319, OMIM:613352, RefSeq DNA:NT_005612, RefSeq Protein:NP_057709, RefSeq RNA:NM_016625, UniProtKB:Q96IZ7 No chr3 157823690 158262624 158110052 158544835 +PA162402249 65117 HGNC:30559 ENSG00000111011 arginine and serine rich coiled-coil 2 RSRC2 arginine/serine-rich coiled-coil 2 FLJ11021 Yes No Ensembl:ENSG00000111011, GeneCard:RSRC2, HGNC:HGNC:30559, HumanCyc Gene:HS12734, ModBase:Q7L4I2, NCBI Gene:65117, RefSeq DNA:NT_009755, RefSeq Protein:NP_075388, RefSeq Protein:NP_937992, RefSeq Protein:NP_937993, RefSeq RNA:NM_023012, RefSeq RNA:NM_198261, RefSeq RNA:NM_198262, RefSeq RNA:NR_036434, RefSeq RNA:NR_036435, RefSeq RNA:NR_036436, UniProtKB:Q7L4I2 No chr12 122989190 123011560 122504643 122527013 +PA142672513 57035 HGNC:25234 ENSG00000117616 arginine and serine rich protein 1 RSRP1 arginine/serine-rich protein 1, chromosome 1 open reading frame 63 C1orf63, DJ465N24.2.1 Yes Yes Ensembl:ENSG00000117616, GeneCard:C1orf63, HGNC:HGNC:25234, HumanCyc Gene:HS12902, ModBase:Q9BUV0, NCBI Gene:57035, RefSeq DNA:NG_003255, RefSeq DNA:NT_004610, RefSeq Protein:NP_064713, RefSeq RNA:NM_020317, UniProtKB:Q9BUV0 No chr1 25568740 25574010 25242237 25338254 +PA34876 6251 HGNC:10464 ENSG00000148484 Ras suppressor protein 1 RSU1 FLJ31034, RSP-1 Yes No Comparative Toxicogenomics Database:6251, Ensembl:ENSG00000148484, GenAtlas:RSU1, GeneCard:RSU1, HGNC:HGNC:10464, HumanCyc Gene:HS07533, ModBase:Q15404, NCBI Gene:6251, OMIM:179555, RefSeq DNA:NT_008705, RefSeq Protein:NP_036557, RefSeq Protein:NP_689937, RefSeq RNA:NM_012425, RefSeq RNA:NM_152724, UCSC Genome Browser:NM_012425, UniProtKB:A8KA46, UniProtKB:Q15404 No chr10 16632615 16859509 16590616 16817537 +PA134880250 100129622 HGNC:31114 ENSG00000230425 Ras suppressor protein 1 pseudogene 1 RSU1P1 Y214H10.6 Yes No Ensembl:ENSG00000230425, GeneCard:RSU1P1, HGNC:HGNC:31114, NCBI Gene:100129622 No chr10 43230155 43234243 42734707 42738795 +PA144596387 83546 HGNC:30310 ENSG00000132026 retbindin RTBDN FLJ36353 Yes No Ensembl:ENSG00000132026, GeneCard:RTBDN, HGNC:HGNC:30310, HumanCyc Gene:HS13414, NCBI Gene:83546, OMIM:609553, RefSeq DNA:NT_011295, RefSeq Protein:NP_001074466, RefSeq Protein:NP_113617, RefSeq RNA:NM_001080997, RefSeq RNA:NM_031429, UniProtKB:Q9BSG5 No chr19 12936291 12946242 12825477 12835428 +PA34877 8634 HGNC:17981 ENSG00000137996 RNA 3'-terminal phosphate cyclase RTCA RPC, RTC1, RTCD1 Yes No Comparative Toxicogenomics Database:8634, Ensembl:ENSG00000137996, GenAtlas:RTCD1, GeneCard:RTCD1, HGNC:HGNC:17981, HumanCyc Gene:HS06433, ModBase:O00442, NCBI Gene:8634, OMIM:611286, RefSeq DNA:NT_032977, RefSeq Protein:NP_001124313, RefSeq Protein:NP_003720, RefSeq RNA:NM_001130841, RefSeq RNA:NM_003729, UCSC Genome Browser:NM_003729, UniProtKB:O00442 No chr1 100731714 100758325 100266158 100292769 +PA145149387 51493 HGNC:26935 ENSG00000100220 RNA 2',3'-cyclic phosphate and 5'-OH ligase RTCB chromosome 22 open reading frame 28, focal adhesion-associated protein, tRNA-splicing ligase RtcB homolog C22orf28, FAAP, HSPC117 Yes No Ensembl:ENSG00000100220, GeneCard:C22orf28, HGNC:HGNC:26935, HumanCyc Gene:HS02006, ModBase:Q9Y3I0, NCBI Gene:51493, RefSeq DNA:NT_011520, RefSeq Protein:NP_055121, RefSeq RNA:NM_014306, UniProtKB:Q9Y3I0 No chr22 32783562 32808274 32387575 32412287 +PA134915625 51750 HGNC:15888 ENSG00000258366 regulator of telomere elongation helicase 1 RTEL1 C20orf41, DKFZP434C013, KIAA1088, NHL, RTEL, bK3184A7.3 Yes No Ensembl:ENSG00000258366, GeneCard:RTEL1, HGNC:HGNC:15888, ModBase:Q9Y4R6, NCBI Gene:51750, OMIM:608833, RefSeq DNA:NT_011333, RefSeq Protein:NP_057518, RefSeq Protein:NP_116575, RefSeq RNA:NM_016434, RefSeq RNA:NM_032957, UniProtKB:Q9NZ71 No chr20 62289163 62327606 63657810 63696253 +PA134961778 23168 HGNC:28996 ENSG00000137815 RTF1 homolog, Paf1/RNA polymerase II complex component RTF1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) KIAA0252 Yes No Comparative Toxicogenomics Database:23168, Ensembl:ENSG00000137815, GeneCard:RTF1, HGNC:HGNC:28996, HumanCyc Gene:HS13696, ModBase:Q92541, NCBI Gene:23168, OMIM:611633, OMIM:612015, RefSeq DNA:NT_010194, RefSeq Protein:NP_055953, RefSeq RNA:NM_015138, UniProtKB:Q92541 No chr15 41709302 41775761 41417104 41483563 +PA25756 51507 HGNC:15890 ENSG00000022277 replication termination factor 2 RTF2 replication termination factor 2 domain containing 1 C20orf43, CDAO5, HSPC164, RTFDC1 Yes No Ensembl:ENSG00000022277, GenAtlas:C20orf43, GeneCard:C20orf43, HGNC:HGNC:15890, HumanCyc Gene:HS12065, ModBase:Q9BY42, NCBI Gene:51507, RefSeq DNA:NT_011362, RefSeq Protein:NP_057491, RefSeq RNA:NM_016407, UCSC Genome Browser:NM_016407, UniProtKB:Q9BY42 No chr20 55043641 55093942 56468585 56518886 +PA34879 6242 HGNC:10466 ENSG00000114993 rhotekin RTKN B5, RTKN-1 Yes No Comparative Toxicogenomics Database:6242, Ensembl:ENSG00000114993, GenAtlas:RTKN, GeneCard:RTKN, HGNC:HGNC:10466, HumanCyc Gene:HS03821, ModBase:Q9BST9, NCBI Gene:6242, OMIM:602288, RefSeq DNA:NT_022184, RefSeq Protein:NP_001015055, RefSeq Protein:NP_001015056, RefSeq Protein:NP_149035, RefSeq RNA:NM_001015055, RefSeq RNA:NM_001015056, RefSeq RNA:NM_033046, UCSC Genome Browser:NM_033046, UniProtKB:A8MQ09, UniProtKB:Q9BST9 No chr2 74652988 74669060 74425861 74441933 +PA162402276 219790 HGNC:19364 ENSG00000182010 rhotekin 2 RTKN2 Em:AC024597.2, FLJ39352, PLEKHK1, bA531F24.1 Yes No Ensembl:ENSG00000182010, GeneCard:RTKN2, HGNC:HGNC:19364, ModBase:Q8IZC4, NCBI Gene:219790, RefSeq DNA:NT_030059, RefSeq Protein:NP_660350, RefSeq RNA:NM_145307, UniProtKB:Q8IZC4 No chr10 63942794 64028570 62159131 62268879 +PA143485603 388015 HGNC:14665 ENSG00000254656 retrotransposon Gag like 1 RTL1 Sushi-Ichi retrotransposon homolog 2, mammalian retrotransposon-derived 1, paternally expressed 11, retrotransposon-like 1 HUR1, MART1, Mar1, PEG11, SIRH2 Yes No Ensembl:ENSG00000254656, GeneCard:RTL1, HGNC:HGNC:14665, ModBase:A6NKG5, NCBI Gene:388015, OMIM:611896, RefSeq DNA:NT_026437, RefSeq Protein:NP_001128360, RefSeq RNA:NM_001134888 No chr14 101346569 101359826 100880655 100884847 +PA145149415 79680 HGNC:26112 ENSG00000215012 retrotransposon Gag like 10 RTL10 BH3-only protein, chromosome 22 open reading frame 29 BOP, C22orf29, FLJ21125 Yes No Comparative Toxicogenomics Database:79680, Ensembl:ENSG00000215012, GeneCard:C22orf29, HGNC:HGNC:26112, ModBase:Q7L3V2, NCBI Gene:79680, RefSeq DNA:NT_011519, RefSeq Protein:NP_078903, RefSeq RNA:NM_024627, UniProtKB:Q7L3V2 No chr22 19833661 19842371 19846138 19854848 +PA134958360 203430 HGNC:22997 ENSG00000179300 retrotransposon Gag like 3 RTL3 """Sushi-Ichi retrotransposon homolog 9"", ""mammalian retrotransposon-derived 3"", ""zinc finger, CCHC domain containing 5""" FLJ38865, Mar3, Mart3, SIRH9, ZCCHC5, ZHC5 Yes No Comparative Toxicogenomics Database:203430, Ensembl:ENSG00000179300, GeneCard:ZCCHC5, HGNC:HGNC:22997, HumanCyc Gene:HS11368, ModBase:Q8N8U3, NCBI Gene:203430, RefSeq DNA:NG_015973, RefSeq DNA:NT_011651, RefSeq Protein:NP_689907, RefSeq RNA:NM_152694, UniProtKB:Q8N8U3 No chrX 77911566 77914825 78656069 78659328 +PA142670538 340595 HGNC:25214 ENSG00000187823 retrotransposon Gag like 4 RTL4 """Sushi-Ichi retrotransposon homolog 11"", ""mammalian retrotransposon-derived 4"", ""zinc finger, CCHC domain containing 16""" FLJ46608, Mar4, Mart4, SIRH11, ZCCHC16 Yes No Ensembl:ENSG00000187823, GeneCard:ZCCHC16, HGNC:HGNC:25214, ModBase:Q6ZR62, NCBI Gene:340595, RefSeq DNA:NT_011651, RefSeq Protein:NP_001004308, RefSeq RNA:NM_001004308, UniProtKB:Q6ZR62 No chrX 111326253 111700473 112083025 112457245 +PA134992098 340526 HGNC:29430 ENSG00000242732 retrotransposon Gag like 5 RTL5 Sushi-Ichi retrotransposon homolog 8, mammalian retrotransposon-derived 5, retrotransposon gag domain containing 4 KIAA2001, Mar5, Mart5, RGAG4, SIRH8 Yes No Ensembl:ENSG00000242732, GeneCard:RGAG4, HGNC:HGNC:29430, ModBase:Q5HYW3, NCBI Gene:340526, RefSeq DNA:NG_021352, RefSeq DNA:NT_011669, RefSeq Protein:NP_001019626, RefSeq RNA:NM_001024455, UniProtKB:Q5HYW3 No chrX 71346960 71351751 72127110 72131901 +PA134971270 84247 HGNC:13343 ENSG00000188636 retrotransposon Gag like 6 RTL6 """Sushi-Ichi retrotransposon homolog 3"", ""leucine zipper, down-regulated in cancer 1-like"", ""mammalian retrotransposon-derived 6""" DKFZp761O17121, LDOC1L, Mar6, Mart6, SIRH3, dJ1033E15.2 Yes No Ensembl:ENSG00000188636, GeneCard:LDOC1L, HGNC:HGNC:13343, NCBI Gene:84247, RefSeq DNA:NT_011520, RefSeq Protein:NP_115663, RefSeq RNA:NM_032287, UniProtKB:Q6ICC9 No chr22 44888450 44894005 44492570 44498125 +PA162385915 26071 HGNC:24514 ENSG00000203950 retrotransposon Gag like 8A RTL8A """Sushi-Ichi retrotransposon homolog 6"", ""family with sequence similarity 127, member B"", ""mammalian retrotransposon-derived 8A""" CXX1b, DKFZP564B147, FAM127B, MAR8A, SIRH6 Yes No Ensembl:ENSG00000203950, GeneCard:FAM127B, HGNC:HGNC:24514, NCBI Gene:26071, RefSeq DNA:NT_011786, RefSeq Protein:NP_001071640, RefSeq Protein:NP_001127793, RefSeq RNA:NM_001078172, RefSeq RNA:NM_001134321, UniProtKB:Q9BWD3 No chrX 134184962 134186221 135050932 135052191 +PA162385922 441518 HGNC:33156 ENSG00000212747 retrotransposon Gag like 8B RTL8B """Sushi-Ichi retrotransposon homolog 1"", ""family with sequence similarity 127, member C"", ""mammalian retrotransposon-derived 2""" CXX1c, FAM127C, MAR8B, SIRH4 Yes No Ensembl:ENSG00000212747, GeneCard:FAM127C, HGNC:HGNC:33156, NCBI Gene:441518, RefSeq DNA:NT_011786, RefSeq Protein:NP_001071641, RefSeq RNA:NM_001078173, UniProtKB:Q17RB0 No chrX 134154534 134156924 135020504 135022536 +PA162385908 8933 HGNC:2569 ENSG00000134590 retrotransposon Gag like 8C RTL8C """Sushi-Ichi retrotransposon homolog 5"", ""family with sequence similarity 127, member A"", ""mammalian retrotransposon-derived 8C""" CXX1, FAM127A, MAR8C, Mar8, Mart8, SIRH5 Yes No Ensembl:ENSG00000134590, GeneCard:FAM127A, HGNC:HGNC:2569, NCBI Gene:8933, OMIM:300213, RefSeq DNA:NT_011786, RefSeq Protein:NP_001071639, RefSeq RNA:NM_001078171, UniProtKB:A6ZKI3 No chrX 134166333 134167576 135032303 135033546 +PA134934891 57529 HGNC:29245 ENSG00000243978 retrotransposon Gag like 9 RTL9 Sushi-Ichi retrotransposon homolog 10, mammalian retrotransposon-derived 9, retrotransposon gag domain containing 1 KIAA1318, Mar9, Mart9, RGAG1, SIRH10 Yes No Ensembl:ENSG00000243978, GeneCard:RGAG1, HGNC:HGNC:29245, ModBase:Q8NET4, NCBI Gene:57529, RefSeq DNA:NG_016402, RefSeq DNA:NT_011651, RefSeq Protein:NP_065820, RefSeq RNA:NM_020769, UniProtKB:Q8NET4 No chrX 109602044 109699562 110358101 110456334 +PA34880 6252 HGNC:10467 ENSG00000139970 reticulon 1 RTN1 NSP Yes No Comparative Toxicogenomics Database:6252, Ensembl:ENSG00000139970, GenAtlas:RTN1, GeneCard:RTN1, HGNC:HGNC:10467, HumanCyc Gene:HS06670, ModBase:Q16799, NCBI Gene:6252, OMIM:600865, RefSeq DNA:NT_026437, RefSeq Protein:NP_066959, RefSeq Protein:NP_996734, RefSeq Protein:NP_996739, RefSeq RNA:NM_021136, RefSeq RNA:NM_206852, RefSeq RNA:NM_206857, UCSC Genome Browser:NM_021136, UniProtKB:Q16799 No chr14 60062694 60337557 59595976 59871288 +PA34881 6253 HGNC:10468 ENSG00000125744 reticulon 2 RTN2 NSP-like protein 1, Neuroendocrine-specific protein-like 1 NSP2, NSPL1, SPG12 Yes No Comparative Toxicogenomics Database:6253, Ensembl:ENSG00000125744, GenAtlas:RTN2, GeneCard:RTN2, HGNC:HGNC:10468, HumanCyc Gene:HS04925, ModBase:O75298, NCBI Gene:6253, OMIM:603183, RefSeq DNA:NT_011109, RefSeq Protein:NP_005610, RefSeq Protein:NP_996783, RefSeq Protein:NP_996784, RefSeq RNA:NM_005619, RefSeq RNA:NM_206900, RefSeq RNA:NM_206901, UCSC Genome Browser:NM_005619, UniProtKB:O75298, UniProtKB:Q96CG9 No chr19 45988546 46000313 45485288 45497055 +PA34882 10313 HGNC:10469 ENSG00000133318 reticulon 3 RTN3 ASY interacting protein, NSP-like protein II, homolog of ASY protein, isoforme III, neuroendocrine-specific protein-like 2 ASYIP, HAP, NSPL2, NSPLII, RTN3-A1 Yes No Comparative Toxicogenomics Database:10313, Ensembl:ENSG00000133318, GenAtlas:RTN3, GeneCard:RTN3, HGNC:HGNC:10469, HumanCyc Gene:HS05757, NCBI Gene:10313, OMIM:604249, RefSeq DNA:NT_167190, RefSeq Protein:NP_006045, RefSeq Protein:NP_958831, RefSeq Protein:NP_958832, RefSeq Protein:NP_958833, RefSeq RNA:NM_006054, RefSeq RNA:NM_201428, RefSeq RNA:NM_201429, RefSeq RNA:NM_201430, UCSC Genome Browser:NM_006054, UniProtKB:O95197 No chr11 63448922 63527363 63681315 63759891 +PA134863958 152905 HGNC:19212 ENSG00000251333 reticulon 3 pseudogene 1 RTN3P1 Yes No Ensembl:ENSG00000251333, GeneCard:RTN3PS, HGNC:HGNC:19212, NCBI Gene:152905 No chr4 146296532 146299129 145375380 145377977 +PA34883 57142 HGNC:14085 ENSG00000115310 reticulon 4 RTN4 ASY, KIAA0886, NOGO, NSP-CL Yes No Comparative Toxicogenomics Database:57142, Ensembl:ENSG00000115310, GenAtlas:RTN4, GeneCard:RTN4, HGNC:HGNC:14085, HumanCyc Gene:HS03869, ModBase:Q9Y2Y7, NCBI Gene:57142, OMIM:604475, RefSeq DNA:NT_022184, RefSeq Protein:NP_008939, RefSeq Protein:NP_065393, RefSeq Protein:NP_722550, RefSeq Protein:NP_997403, RefSeq Protein:NP_997404, RefSeq RNA:NM_007008, RefSeq RNA:NM_020532, RefSeq RNA:NM_153828, RefSeq RNA:NM_207520, RefSeq RNA:NM_207521, UCSC Genome Browser:NM_007008, UniProtKB:Q7L7Q5, UniProtKB:Q7L7Q6, UniProtKB:Q8IUA4, UniProtKB:Q9NQC3 No chr2 55199325 55307770 54972187 55137831 +PA38619 84816 HGNC:18647 ENSG00000130347 reticulon 4 interacting protein 1 RTN4IP1 NIMP Yes No Ensembl:ENSG00000130347, GenAtlas:RTN4IP1, GeneCard:RTN4IP1, HGNC:HGNC:18647, HumanCyc Gene:HS05374, ModBase:Q8WWV3, NCBI Gene:84816, OMIM:610502, RefSeq DNA:NT_025741, RefSeq Protein:NP_116119, RefSeq RNA:NM_032730, UCSC Genome Browser:NM_032730, UniProtKB:Q8WWV3 No chr6 107018903 107077373 106559237 106630921 +PA38600 65078 HGNC:18601 ENSG00000040608 reticulon 4 receptor RTN4R NOGO receptor NOGOR Yes No Comparative Toxicogenomics Database:65078, Ensembl:ENSG00000040608, GenAtlas:RTN4R, GeneCard:RTN4R, HGNC:HGNC:18601, HumanCyc Gene:HS00549, ModBase:Q9BZR6, NCBI Gene:65078, OMIM:181500, OMIM:605566, RefSeq DNA:NG_012176, RefSeq DNA:NT_011519, RefSeq Protein:NP_075380, RefSeq RNA:NM_023004, UCSC Genome Browser:NM_023004, UniProtKB:Q9BZR6 No chr22 20228938 20255816 20241415 20268293 +PA134973992 146760 HGNC:21329 ENSG00000185924 reticulon 4 receptor like 1 RTN4RL1 nogo-66 receptor homolog 2, reticulon 4 receptor-like 1 DKFZp547J144, NGRH2, NgR3 Yes No Comparative Toxicogenomics Database:146760, Ensembl:ENSG00000185924, GeneCard:RTN4RL1, HGNC:HGNC:21329, ModBase:Q86UN2, NCBI Gene:146760, OMIM:610461, RefSeq DNA:NT_010718, RefSeq Protein:NP_848663, RefSeq RNA:NM_178568, UniProtKB:Q86UN2 No chr17 1837971 1928178 1934677 2025345 +PA134964131 349667 HGNC:23053 ENSG00000186907 reticulon 4 receptor like 2 RTN4RL2 reticulon 4 receptor-like 2 NGRH1, NgR2 Yes No Ensembl:ENSG00000186907, GeneCard:RTN4RL2, HGNC:HGNC:23053, ModBase:Q86UN3, NCBI Gene:349667, OMIM:610462, RefSeq DNA:NT_167190, RefSeq Protein:NP_848665, RefSeq RNA:NM_178570, UniProtKB:Q86UN3 No chr11 57227926 57244384 57460537 57477539 +PA143485604 132112 HGNC:28580 ENSG00000175077 receptor transporter protein 1 RTP1 """receptor (chemosensory) transporter protein 1"", ""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1""" MGC35450, Z3CXXC1 Yes No Comparative Toxicogenomics Database:132112, Ensembl:ENSG00000175077, GeneCard:RTP1, HGNC:HGNC:28580, HumanCyc Gene:HS10874, ModBase:P59025, NCBI Gene:132112, OMIM:609137, RefSeq DNA:NT_005612, RefSeq Protein:NP_714919, RefSeq RNA:NM_153708, UniProtKB:P59025 No chr3 186915274 186919253 187197486 187201465 +PA143485605 344892 HGNC:32486 ENSG00000198471 receptor transporter protein 2 RTP2 """receptor (chemosensory) transporter protein 2"", ""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2""" MGC78665, Z3CXXC2 Yes No Ensembl:ENSG00000198471, GeneCard:RTP2, HGNC:HGNC:32486, NCBI Gene:344892, OMIM:609138, RefSeq DNA:NT_005612, RefSeq Protein:NP_001004312, RefSeq RNA:NM_001004312, UniProtKB:Q5QGT7 No chr3 187416047 187420345 187698259 187715625 +PA37981 83597 HGNC:15572 ENSG00000163825 receptor transporter protein 3 RTP3 """receptor (chemosensory) transporter protein 3"", ""zinc finger, 3CxxC-type 3""" LTM1, TMEM7, Z3CXXC3 Yes No Comparative Toxicogenomics Database:83597, Ensembl:ENSG00000163825, GenAtlas:RTP3, GeneCard:RTP3, HGNC:HGNC:15572, HumanCyc Gene:HS08949, NCBI Gene:83597, OMIM:607181, RefSeq DNA:NT_022517, RefSeq Protein:NP_113628, RefSeq RNA:NM_031440, UCSC Genome Browser:NM_031440, UniProtKB:Q9BQQ7 No chr3 46539485 46542439 46497995 46500949 +PA143485606 64108 HGNC:23992 ENSG00000136514 receptor transporter protein 4 RTP4 """receptor (chemosensory) transporter protein 4"", ""zinc finger, 3CxxC-type 4""" IFRG28, Z3CXXC4 Yes No Comparative Toxicogenomics Database:64108, Ensembl:ENSG00000136514, GeneCard:RTP4, HGNC:HGNC:23992, HumanCyc Gene:HS06173, NCBI Gene:64108, OMIM:609350, RefSeq DNA:NT_005612, RefSeq Protein:NP_071430, RefSeq RNA:NM_022147, UniProtKB:Q96DX8 No chr3 187086168 187089372 187368380 187371584 +PA164717177 285093 HGNC:26585 ENSG00000188011 receptor transporter protein 5 (putative) RTP5 """CXXC finger protein 11"", ""receptor (chemosensory) transporter protein 5 (putative)"", ""zinc finger, 3CxxC-type 5""" C2orf85, CXXC11, FLJ33590, Z3CXXC5 Yes No Ensembl:ENSG00000188011, GeneCard:C2orf85, HGNC:HGNC:26585, NCBI Gene:285093, RefSeq DNA:NT_005416, RefSeq Protein:NP_776182, RefSeq RNA:NM_173821, UniProtKB:Q14D33 No chr2 242811886 242815482 241869729 241873817 +PA134953268 51637 HGNC:23169 ENSG00000087302 RNA transcription, translation and transport factor RTRAF RLL motif containing 1, chromosome 14 open reading frame 166 C14orf166, CGI-99, CLE, CLE7, LCRP369, RLLM1, hCLE1 Yes No Ensembl:ENSG00000087302, GeneCard:C14orf166, HGNC:HGNC:23169, HumanCyc Gene:HS12295, ModBase:Q9Y224, NCBI Gene:51637, OMIM:610858, RefSeq DNA:NT_026437, RefSeq Protein:NP_057123, RefSeq RNA:NM_016039, UniProtKB:Q549M8, UniProtKB:Q9Y224 No chr14 52456228 52471420 51989510 52004702 +PA38622 25914 HGNC:18654 ENSG00000176225 rotatin RTTN DKFZP434G145 Yes No Ensembl:ENSG00000176225, GenAtlas:RTTN, GeneCard:RTTN, HGNC:HGNC:18654, HumanCyc Gene:HS13472, NCBI Gene:25914, OMIM:610436, RefSeq DNA:NT_025028, RefSeq Protein:NP_775901, RefSeq RNA:NM_173630, UCSC Genome Browser:NM_173630, UniProtKB:Q86VV8 No chr18 67671040 67872962 70003804 70205726 +PA134887849 9711 HGNC:28991 ENSG00000145016 rubicon autophagy regulator RUBCN RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein KIAA0226, rubicon, rundataxin Yes No Comparative Toxicogenomics Database:9711, Ensembl:ENSG00000145016, GeneCard:KIAA0226, HGNC:HGNC:28991, NCBI Gene:9711, OMIM:613516, RefSeq DNA:NT_029928, RefSeq Protein:NP_001139114, RefSeq Protein:NP_055502, RefSeq RNA:NM_001145642, RefSeq RNA:NM_014687, UniProtKB:Q92622 No chr3 197398259 197476568 197670213 197749851 +PA134942431 80183 HGNC:20420 ENSG00000102445 rubicon like autophagy enhancer RUBCNL KIAA0226-like C13orf18, FLJ21562, KIAA0226L, PACER Yes No Comparative Toxicogenomics Database:80183, Ensembl:ENSG00000102445, GeneCard:C13orf18, HGNC:HGNC:20420, HumanCyc Gene:HS12486, ModBase:Q9H714, NCBI Gene:80183, RefSeq DNA:NT_024524, RefSeq Protein:NP_079389, RefSeq RNA:NM_025113, UniProtKB:Q9H714 No chr13 46916136 46964177 46342000 46390042 +PA134944787 80230 HGNC:19760 ENSG00000176783 RUN and FYVE domain containing 1 RUFY1 FLJ22251, RABIP4, ZFYVE12 Yes No Ensembl:ENSG00000176783, GeneCard:RUFY1, HGNC:HGNC:19760, HumanCyc Gene:HS11084, ModBase:Q96T51, NCBI Gene:80230, OMIM:610327, RefSeq DNA:NT_023133, RefSeq Protein:NP_001035541, RefSeq Protein:NP_001035542, RefSeq Protein:NP_079434, RefSeq RNA:NM_001040451, RefSeq RNA:NM_001040452, RefSeq RNA:NM_025158, UniProtKB:Q96T51 No chr5 178977562 179037027 179550551 179610026 +PA134935922 55680 HGNC:19761 ENSG00000204130 RUN and FYVE domain containing 2 RUFY2 FLJ10063, KIAA1537, RABIP4R, ZFYVE13 Yes No Ensembl:ENSG00000204130, GeneCard:RUFY2, HGNC:HGNC:19761, ModBase:Q8WXA3, NCBI Gene:55680, OMIM:610328, RefSeq DNA:NT_030059, RefSeq Protein:NP_001035882, RefSeq Protein:NP_060457, RefSeq RNA:NM_001042417, RefSeq RNA:NM_017987, UniProtKB:B3KXB2, UniProtKB:Q8IW33 No chr10 70100864 70167051 68341107 68407302 +PA142670961 22902 HGNC:30285 ENSG00000018189 RUN and FYVE domain containing 3 RUFY3 single axon-related 1 KIAA0871, RIPx, Singar1, ZFYVE30 Yes No Comparative Toxicogenomics Database:22902, Ensembl:ENSG00000018189, GeneCard:RUFY3, HGNC:HGNC:30285, HumanCyc Gene:HS12056, ModBase:Q7L099, NCBI Gene:22902, OMIM:611194, RefSeq DNA:NT_022778, RefSeq Protein:NP_001032519, RefSeq Protein:NP_001124181, RefSeq Protein:NP_055776, RefSeq RNA:NM_001037442, RefSeq RNA:NM_001130709, RefSeq RNA:NM_014961, UniProtKB:Q7L099 No chr4 71570647 71674336 70704204 70808622 +PA147357421 285180 HGNC:24804 ENSG00000188282 RUN and FYVE domain containing 4 RUFY4 FLJ46536, ZFYVE31 Yes No Ensembl:ENSG00000188282, GeneCard:RUFY4, HGNC:HGNC:24804, NCBI Gene:285180, RefSeq DNA:NT_005403, RefSeq Protein:NP_940885, RefSeq RNA:NM_198483, RefSeq RNA:NR_034176, UniProtKB:Q6ZNE9 No chr2 218899657 218955304 218034934 218090584 +PA134956633 146923 HGNC:25418 ENSG00000198863 RUN domain containing 1 RUNDC1 DKFZp761H0421 Yes No Ensembl:ENSG00000198863, GeneCard:RUNDC1, HGNC:HGNC:25418, NCBI Gene:146923, RefSeq DNA:NT_010783, RefSeq Protein:NP_775102, RefSeq RNA:NM_173079, UniProtKB:Q96C34 No chr17 41132527 41145713 42980510 42993692 +PA162402277 10900 HGNC:16984 ENSG00000108309 RUN domain containing 3A RUNDC3A RAP2IP, RPIP8 Yes No Ensembl:ENSG00000108309, GeneCard:RUNDC3A, HGNC:HGNC:16984, HumanCyc Gene:HS03086, NCBI Gene:10900, OMIM:605448, RefSeq DNA:NT_010783, RefSeq Protein:NP_001138297, RefSeq Protein:NP_001138298, RefSeq Protein:NP_006686, RefSeq RNA:NM_001144825, RefSeq RNA:NM_001144826, RefSeq RNA:NM_006695, UniProtKB:Q59EK9 No chr17 42385786 42396039 44308559 44318670 +PA162402278 154661 HGNC:30286 ENSG00000105784 RUN domain containing 3B RUNDC3B RPIB9, RPIP9 Yes No Ensembl:ENSG00000105784, GeneCard:RUNDC3B, HGNC:HGNC:30286, HumanCyc Gene:HS12608, ModBase:Q96NL0, NCBI Gene:154661, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001127877, RefSeq Protein:NP_001127878, RefSeq Protein:NP_612147, RefSeq RNA:NM_001134405, RefSeq RNA:NM_001134406, RefSeq RNA:NM_138290, UniProtKB:B4DFD0, UniProtKB:Q96NL0 No chr7 87257729 87461613 87627656 87832298 +PA34884 861 HGNC:10471 ENSG00000159216 RUNX family transcription factor 1 RUNX1 aml1 oncogene, runt related transcription factor 1, runt-related transcription factor 1 AML1, AMLCR1, CBFA2, PEBP2A2 Yes Yes Comparative Toxicogenomics Database:861, Ensembl:ENSG00000159216, GenAtlas:RUNX1, GeneCard:RUNX1, HGNC:HGNC:10471, HumanCyc Gene:HS08375, ModBase:Q16285, NCBI Gene:861, OMIM:151385, OMIM:180300, OMIM:601399, OMIM:601626, RefSeq DNA:NG_011402, RefSeq DNA:NT_011512, RefSeq Protein:NP_001001890, RefSeq Protein:NP_001116079, RefSeq Protein:NP_001745, RefSeq RNA:NM_001001890, RefSeq RNA:NM_001122607, RefSeq RNA:NM_001754, UCSC Genome Browser:NM_001754, UniProtKB:Q01196 No chr21 36160098 36421595 34787801 35049334 +PA134924632 80215 HGNC:16623 RUNX1 intronic transcript 1 (non-protein coding) RUNX1-IT1 FLJ20856 Yes No Comparative Toxicogenomics Database:80215, GeneCard:C21orf96, HGNC:HGNC:16623, NCBI Gene:80215, RefSeq DNA:NT_011512, RefSeq RNA:NR_026812 No chr21 36410222 36411723 35037925 35039426 +PA26111 862 HGNC:1535 ENSG00000079102 RUNX1 partner transcriptional co-repressor 1 RUNX1T1 """RUNX1 translocation partner 1"", ""runt-related transcription factor 1; translocated to, 1 (cyclin D-related)""" AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2 Yes No Comparative Toxicogenomics Database:862, Ensembl:ENSG00000079102, GenAtlas:RUNX1T1, GeneCard:RUNX1T1, HGNC:HGNC:1535, HumanCyc Gene:HS01310, ModBase:Q92479, NCBI Gene:862, OMIM:133435, RefSeq DNA:NG_023272, RefSeq DNA:NT_008046, RefSeq Protein:NP_001185554, RefSeq Protein:NP_001185555, RefSeq Protein:NP_001185556, RefSeq Protein:NP_001185557, RefSeq Protein:NP_001185558, RefSeq Protein:NP_001185559, RefSeq Protein:NP_001185560, RefSeq Protein:NP_001185561, RefSeq Protein:NP_001185562, RefSeq Protein:NP_001185563, RefSeq Protein:NP_001185608, RefSeq Protein:NP_004340, RefSeq Protein:NP_783552, RefSeq Protein:NP_783553, RefSeq Protein:NP_783554, RefSeq RNA:NM_001198625, RefSeq RNA:NM_001198626, RefSeq RNA:NM_001198627, RefSeq RNA:NM_001198628, RefSeq RNA:NM_001198629, RefSeq RNA:NM_001198630, RefSeq RNA:NM_001198631, RefSeq RNA:NM_001198632, RefSeq RNA:NM_001198633, RefSeq RNA:NM_001198634, RefSeq RNA:NM_001198679, RefSeq RNA:NM_004349, RefSeq RNA:NM_175634, RefSeq RNA:NM_175635, RefSeq RNA:NM_175636, UCSC Genome Browser:NM_004349, UniProtKB:Q06455, UniProtKB:Q7Z4J5 No chr8 92967195 93115454 91954967 92103365 +PA34885 860 HGNC:10472 ENSG00000124813 RUNX family transcription factor 2 RUNX2 runt related transcription factor 2, runt-related transcription factor 2 AML3, CBFA1, CCD, CCD1, PEBP2A1, PEBP2aA1 Yes No Comparative Toxicogenomics Database:860, Ensembl:ENSG00000124813, GenAtlas:RUNX2, GeneCard:RUNX2, HGNC:HGNC:10472, HumanCyc Gene:HS04840, ModBase:Q13950, NCBI Gene:860, OMIM:119600, OMIM:600211, RefSeq DNA:NG_008020, RefSeq DNA:NT_007592, RefSeq Protein:NP_001015051, RefSeq Protein:NP_001019801, RefSeq Protein:NP_004339, RefSeq RNA:NM_001015051, RefSeq RNA:NM_001024630, RefSeq RNA:NM_004348, UCSC Genome Browser:NM_004348, UniProtKB:Q13950 No chr6 45296054 45518819 45328142 45664032 +PA34886 864 HGNC:10473 ENSG00000020633 RUNX family transcription factor 3 RUNX3 runt related transcription factor 3, runt-related transcription factor 3 AML2, CBFA3, PEBP2A3 Yes No Comparative Toxicogenomics Database:864, Ensembl:ENSG00000020633, GenAtlas:RUNX3, GeneCard:RUNX3, HGNC:HGNC:10473, HumanCyc Gene:HS00404, ModBase:Q13761, NCBI Gene:864, OMIM:600210, RefSeq DNA:NT_004610, RefSeq Protein:NP_001026850, RefSeq Protein:NP_004341, RefSeq RNA:NM_001031680, RefSeq RNA:NM_004350, UCSC Genome Browser:NM_004350, UniProtKB:B1AJV5, UniProtKB:Q13761 No chr1 25226002 25291648 24899511 24965158 +PA134947113 23623 HGNC:17153 ENSG00000160753 RUN and SH3 domain containing 1 RUSC1 NESCA Yes No Comparative Toxicogenomics Database:23623, Ensembl:ENSG00000160753, GeneCard:RUSC1, HGNC:HGNC:17153, HumanCyc Gene:HS08529, ModBase:Q9BVN2, NCBI Gene:23623, RefSeq DNA:NT_004487, RefSeq Protein:NP_001098673, RefSeq Protein:NP_001098674, RefSeq Protein:NP_001098675, RefSeq Protein:NP_055143, RefSeq RNA:NM_001105203, RefSeq RNA:NM_001105204, RefSeq RNA:NM_001105205, RefSeq RNA:NM_014328, UniProtKB:B3KWM9, UniProtKB:Q5T9U9, UniProtKB:Q5T9V0, UniProtKB:Q9BVN2 No chr1 155290640 155300909 155320849 155331118 +PA142672488 284618 HGNC:26680 ENSG00000225855 RUSC1 antisense RNA 1 RUSC1-AS1 FLJ35976 Yes No Ensembl:ENSG00000225855, GeneCard:C1orf104, HGNC:HGNC:26680, ModBase:Q66K80, NCBI Gene:284618, RefSeq DNA:NT_004487, RefSeq Protein:NP_001034606, RefSeq RNA:NM_001039517, UniProtKB:Q66K80 No chr1 155290251 155293938 155320460 155324147 +PA134956488 9853 HGNC:23625 ENSG00000198853 RUN and SH3 domain containing 2 RUSC2 Iporin KIAA0375 Yes No Comparative Toxicogenomics Database:9853, Ensembl:ENSG00000198853, GeneCard:RUSC2, HGNC:HGNC:23625, ModBase:Q8N2Y8, NCBI Gene:9853, OMIM:611053, RefSeq DNA:NT_008413, RefSeq Protein:NP_001129471, RefSeq Protein:NP_055621, RefSeq RNA:NM_001135999, RefSeq RNA:NM_014806, UniProtKB:Q8N2Y8 No chr9 35490007 35561895 35487999 35561898 +PA166352087 64755 HGNC:25848 RUS family member 1 RUSF1 C16orf58, RUS1 homolog, root UVB sensitivity FLJ13868 Yes No HGNC:HGNC:25848, NCBI Gene:64755 No 0 0 0 0 +PA34887 8607 HGNC:10474 ENSG00000175792 RuvB like AAA ATPase 1 RUVBL1 INO80 complex subunit H, RuvB-like 1 (E. coli), RuvB-like AAA ATPase 1, pontin ECP54, INO80H, NMP238, Pontin52, RVB1, Rvb1, TIH1, TIP49, TIP49a Yes No Comparative Toxicogenomics Database:8607, Ensembl:ENSG00000175792, GenAtlas:RUVBL1, GeneCard:RUVBL1, HGNC:HGNC:10474, HumanCyc Gene:HS10973, ModBase:Q9Y265, NCBI Gene:8607, OMIM:603449, RefSeq DNA:NT_005612, RefSeq Protein:NP_003698, RefSeq RNA:NM_003707, UCSC Genome Browser:NM_003707, UniProtKB:Q9Y265 No chr3 127799800 127872752 128064612 128153914 +PA34888 10856 HGNC:10475 ENSG00000183207 RuvB like AAA ATPase 2 RUVBL2 INO80 complex subunit J, RuvB-like 2 (E. coli), RuvB-like AAA ATPase 2, reptin ECP51, INO80J, RVB2, Reptin52, Rvb2, TIH2, TIP48, TIP49b Yes No Comparative Toxicogenomics Database:10856, Ensembl:ENSG00000183207, GenAtlas:RUVBL2, GeneCard:RUVBL2, HGNC:HGNC:10475, ModBase:Q9Y230, NCBI Gene:10856, OMIM:604788, RefSeq DNA:NG_000019, RefSeq DNA:NT_011109, RefSeq Protein:NP_006657, RefSeq RNA:NM_006666, UCSC Genome Browser:NM_006666, UniProtKB:Q9Y230 No chr19 49496738 49519183 48993448 49015995 +PA134967923 51389 HGNC:20993 ENSG00000111832 RWD domain containing 1 RWDD1 PTD013 Yes No Ensembl:ENSG00000111832, GeneCard:RWDD1, HGNC:HGNC:20993, HumanCyc Gene:HS12751, ModBase:Q9H446, NCBI Gene:51389, RefSeq DNA:NT_025741, RefSeq Protein:NP_001007465, RefSeq Protein:NP_057036, RefSeq Protein:NP_057188, RefSeq RNA:NM_001007464, RefSeq RNA:NM_015952, RefSeq RNA:NM_016104, UniProtKB:A8MT24, UniProtKB:Q9H446 No chr6 116892583 116914438 116571367 116593601 +PA134861691 404551 HGNC:31055 RWD domain containing 1 pseudogene 1 RWDD1P1 Yes No GeneCard:RWDD1P1, HGNC:HGNC:31055, NCBI Gene:404551 No chr15 78674915 78675542 78382573 78383200 +PA134873462 727789 HGNC:31794 RWD domain containing 1 pseudogene 3 RWDD1P3 Yes No GeneCard:RWDD1P3, HGNC:HGNC:31794, NCBI Gene:727789, RefSeq DNA:NG_008052, RefSeq DNA:NT_029419 No chr12 77150878 77151865 76757098 76758093 +PA162402307 112611 HGNC:21385 ENSG00000013392 RWD domain containing 2A RWDD2A MGC13523, RWDD2, dJ747H23.2 Yes No Ensembl:ENSG00000013392, GeneCard:RWDD2A, HGNC:HGNC:21385, HumanCyc Gene:HS12048, ModBase:Q9UIY3, NCBI Gene:112611, RefSeq DNA:NT_007299, RefSeq Protein:NP_219479, RefSeq RNA:NM_033411, UniProtKB:Q9UIY3 No chr6 83903032 83908654 83193313 83198935 +PA162402318 10069 HGNC:1302 ENSG00000156253 RWD domain containing 2B RWDD2B C21orf6, GL011 Yes No Ensembl:ENSG00000156253, GeneCard:RWDD2B, HGNC:HGNC:1302, HumanCyc Gene:HS08109, ModBase:P57060, NCBI Gene:10069, RefSeq DNA:NT_011512, RefSeq Protein:NP_058636, RefSeq RNA:NM_016940, UniProtKB:P57060 No chr21 30378080 30391685 29005759 29019371 +PA134974302 25950 HGNC:21393 ENSG00000122481 RWD domain containing 3 RWDD3 RWD-containing sumoylation enhancer DKFZP566K023, RSUME Yes No Ensembl:ENSG00000122481, GeneCard:RWDD3, HGNC:HGNC:21393, HumanCyc Gene:HS13053, NCBI Gene:25950, RefSeq DNA:NT_032977, RefSeq Protein:NP_001121614, RefSeq Protein:NP_001186611, RefSeq Protein:NP_056300, RefSeq RNA:NM_001128142, RefSeq RNA:NM_001199682, RefSeq RNA:NM_015485, RefSeq RNA:NR_037643, UniProtKB:Q9Y3V2 No chr1 95699711 95712781 95234155 95247225 +PA142670965 201965 HGNC:23750 ENSG00000182552 RWD domain containing 4 RWDD4 FAM28A, MGC10198, RWDD4A Yes No Comparative Toxicogenomics Database:201965, Ensembl:ENSG00000182552, GeneCard:RWDD4A, HGNC:HGNC:23750, HumanCyc Gene:HS16501, ModBase:Q6NW29, NCBI Gene:201965, RefSeq DNA:NT_016354, RefSeq DNA:NT_079592, RefSeq Protein:NP_689895, RefSeq RNA:NM_152682, UniProtKB:Q6NW29 No chr4 184560789 184580331 183639635 183659219 +PA134868312 59350 HGNC:19718 ENSG00000171509 relaxin family peptide receptor 1 RXFP1 relaxin/insulin-like family peptide receptor 1 LGR7, RXFPR1 Yes No Ensembl:ENSG00000171509, GeneCard:RXFP1, HGNC:HGNC:19718, HumanCyc Gene:HS10329, IUPHAR Receptor:351, ModBase:Q9HBX9, NCBI Gene:59350, OMIM:606654, RefSeq DNA:NT_016354, RefSeq Protein:NP_067647, RefSeq RNA:NM_021634, UniProtKB:Q9HBX9 No chr4 159442866 159574524 158521711 158653372 +PA134918556 122042 HGNC:17318 ENSG00000133105 relaxin family peptide receptor 2 RXFP2 relaxin/insulin-like family peptide receptor 2 GPR106, GREAT, INSL3R, LGR8, RXFPR2 Yes No Comparative Toxicogenomics Database:122042, Ensembl:ENSG00000133105, GeneCard:RXFP2, HGNC:HGNC:17318, HumanCyc Gene:HS05733, IUPHAR Receptor:352, ModBase:Q8WXD0, NCBI Gene:122042, OMIM:219050, OMIM:606655, RefSeq DNA:NG_015819, RefSeq DNA:NT_024524, RefSeq Protein:NP_001159530, RefSeq Protein:NP_570718, RefSeq RNA:NM_001166058, RefSeq RNA:NM_130806, UniProtKB:Q3KU23, UniProtKB:Q8WXD0 No chr13 32313679 32377009 31739542 31802872 +PA134868535 51289 HGNC:24883 ENSG00000182631 relaxin family peptide receptor 3 RXFP3 relaxin/insulin-like family peptide receptor 3 GPCR135, RLN3R1, RXFPR3, SALPR Yes No Ensembl:ENSG00000182631, GeneCard:RXFP3, HGNC:HGNC:24883, IUPHAR Receptor:353, ModBase:Q9NSD7, NCBI Gene:51289, OMIM:609445, RefSeq DNA:NT_006576, RefSeq Protein:NP_057652, RefSeq RNA:NM_016568, UniProtKB:Q9NSD7 No chr5 33936491 33939023 33936386 33938918 +PA28848 339403 HGNC:14666 ENSG00000173080 relaxin family peptide/INSL5 receptor 4 RXFP4 relaxin/insulin-like family peptide receptor 4 GPCR142, GPR100, RLN3R2, RXFPR4 Yes No Ensembl:ENSG00000173080, GenAtlas:RXFP4, GeneCard:RXFP4, HGNC:HGNC:14666, IUPHAR Receptor:354, ModBase:Q8TDU9, NCBI Gene:339403, OMIM:609043, RefSeq DNA:NT_004487, RefSeq Protein:NP_871001, RefSeq RNA:NM_181885, UCSC Genome Browser:NM_181885, UniProtKB:Q8TDU9 No chr1 155911480 155912625 155941689 155942834 +PA34890 6256 HGNC:10477 ENSG00000186350 retinoid X receptor alpha RXRA """nuclear receptor subfamily 2 group B member 1"", ""retinoid X receptor, alpha""" NR2B1, RXR-alpha, RXRalpha Yes Yes Comparative Toxicogenomics Database:6256, Ensembl:ENSG00000186350, GenAtlas:RXRA, GeneCard:RXRA, HGNC:HGNC:10477, HumanCyc Gene:HS01285, ModBase:P19793, NCBI Gene:6256, OMIM:180245, RefSeq DNA:NT_019501, RefSeq Protein:NP_002948, RefSeq RNA:NM_002957, UCSC Genome Browser:NM_002957, UniProtKB:P19793, UniProtKB:Q2NL52, UniProtKB:Q6P3U7 No chr9 137218316 137332431 134326463 134440586 +PA34891 6257 HGNC:10478 ENSG00000204231, ENSG00000206289, ENSG00000227322, ENSG00000228333, ENSG00000231321, ENSG00000235712 retinoid X receptor beta RXRB """nuclear receptor subfamily 2 group B member 2"", ""retinoid X receptor, beta""" H-2RIIBP, NR2B2, RCoR-1, RXR-beta, RXRbeta Yes No Comparative Toxicogenomics Database:6257, Ensembl:ENSG00000204231, Ensembl:ENSG00000206289, Ensembl:ENSG00000227322, Ensembl:ENSG00000228333, Ensembl:ENSG00000231321, Ensembl:ENSG00000235712, GenAtlas:RXRB, GeneCard:RXRB, HGNC:HGNC:10478, ModBase:P28702, NCBI Gene:6257, OMIM:180246, RefSeq DNA:NG_023374, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_068811, RefSeq RNA:NM_021976, UCSC Genome Browser:NM_021976, UniProtKB:P28702, UniProtKB:Q5STP9 No chr6 33161362 33168630 33193585 33200997 +PA34892 6258 HGNC:10479 ENSG00000143171 retinoid X receptor gamma RXRG """nuclear receptor subfamily 2 group B member 3"", ""retinoid X receptor, gamma""" NR2B3, RXR-gamma, RXRgamma Yes Yes Comparative Toxicogenomics Database:6258, Ensembl:ENSG00000143171, GenAtlas:RXRG, GeneCard:RXRG, HGNC:HGNC:10479, HumanCyc Gene:HS07001, ModBase:P48443, NCBI Gene:6258, OMIM:180247, RefSeq DNA:NT_004487, RefSeq Protein:NP_001009598, RefSeq Protein:NP_008848, RefSeq RNA:NM_001009598, RefSeq RNA:NM_006917, RefSeq RNA:NR_033824, UCSC Genome Browser:NM_006917, UniProtKB:P48443 No chr1 165370159 165414592 165400922 165445355 +PA37796 10329 HGNC:13530 ENSG00000118600 ribitol xylosyltransferase 1 RXYLT1 transmembrane protein 5 HP10481, TMEM5 Yes No Comparative Toxicogenomics Database:10329, Ensembl:ENSG00000118600, GenAtlas:TMEM5, GeneCard:TMEM5, HGNC:HGNC:13530, HumanCyc Gene:HS04237, ModBase:Q9Y2B1, NCBI Gene:10329, OMIM:605862, RefSeq DNA:NT_029419, RefSeq Protein:NP_055069, RefSeq RNA:NM_014254, UCSC Genome Browser:NM_014254, UniProtKB:Q9Y2B1 No chr12 64173583 64203338 63779803 63809558 +PA34893 23429 HGNC:10480 ENSG00000163602 RING1 and YY1 binding protein RYBP YY1 and E4TF1 associated factor 1, apoptin-associating protein 1, death effector domain-associated factor, ring1 interactor RYBP AAP1, DEDAF, YEAF1 Yes No Comparative Toxicogenomics Database:23429, Ensembl:ENSG00000163602, GenAtlas:RYBP, GeneCard:RYBP, HGNC:HGNC:10480, HumanCyc Gene:HS08890, ModBase:Q8N488, NCBI Gene:23429, OMIM:607535, RefSeq DNA:NT_022459, RefSeq Protein:NP_036366, RefSeq RNA:NM_012234, UCSC Genome Browser:NM_012234, UniProtKB:Q8N488 No chr3 72423744 72495774 72374593 72446623 +PA34894 6259 HGNC:10481 ENSG00000163785 receptor like tyrosine kinase RYK receptor-like tyrosine kinase D3S3195, JTK5, JTK5A, RYK1 Yes No Comparative Toxicogenomics Database:6259, Ensembl:ENSG00000163785, GenAtlas:RYK, GeneCard:RYK, HGNC:HGNC:10481, HumanCyc Gene:HS08934, ModBase:P34925, NCBI Gene:6259, OMIM:600524, RefSeq DNA:NT_005612, RefSeq Protein:NP_001005861, RefSeq Protein:NP_002949, RefSeq RNA:NM_001005861, RefSeq RNA:NM_002958, UCSC Genome Browser:NM_002958, UniProtKB:P34925, UniProtKB:Q59FQ5, UniProtKB:Q8WTZ8 No chr3 133875978 133969586 134157133 134250834 +PA34895 6260 HGNC:10482 ENSG00000263219 receptor-like tyrosine kinase pseudogene 1 RYKP1 JTK5 Yes No Ensembl:ENSG00000263219, GenAtlas:RYKP, GeneCard:RYKP1, HGNC:HGNC:10482, NCBI Gene:6260, RefSeq DNA:NG_005810, RefSeq DNA:NT_010718 No chr17 4125361 4128349 4222066 4225054 +PA34896 6261 HGNC:10483 ENSG00000196218 ryanodine receptor 1 RYR1 """protein phosphatase 1, regulatory subunit 137"", ""ryanodine receptor 1 (skeletal)""" CCO, MHS, MHS1, PPP1R137, RYR Yes Yes Comparative Toxicogenomics Database:6261, Ensembl:ENSG00000196218, GenAtlas:RYR1, GeneCard:RYR1, HGNC:HGNC:10483, ModBase:P21817, NCBI Gene:6261, OMIM:117000, OMIM:145600, OMIM:180901, OMIM:255320, RefSeq DNA:NG_008866, RefSeq DNA:NT_011109, RefSeq Protein:NP_000531, RefSeq Protein:NP_001036188, RefSeq RNA:NM_000540, RefSeq RNA:NM_001042723, UCSC Genome Browser:NM_000540, UniProtKB:P21817 Yes chr19 38924340 39078204 38433700 38587564 +PA300 6262 HGNC:10484 ENSG00000198626 ryanodine receptor 2 RYR2 ryanodine receptor 2 (cardiac) ARVC2, ARVD2, VTSIP Yes Yes Comparative Toxicogenomics Database:6262, Ensembl:ENSG00000198626, GenAtlas:RYR2, GeneCard:RYR2, HGNC:HGNC:10484, ModBase:Q92736, NCBI Gene:6262, OMIM:180902, OMIM:600996, OMIM:604772, RefSeq DNA:NG_008799, RefSeq DNA:NT_167186, RefSeq Protein:NP_001026, RefSeq RNA:NM_001035, UCSC Genome Browser:NM_001035 No chr1 237205510 237997288 237042208 237833988 +PA34897 6263 HGNC:10485 ENSG00000198838 ryanodine receptor 3 RYR3 Yes Yes Comparative Toxicogenomics Database:6263, Ensembl:ENSG00000198838, GenAtlas:RYR3, GeneCard:RYR3, HGNC:HGNC:10485, ModBase:Q15413, NCBI Gene:6263, OMIM:180903, RefSeq DNA:NT_010194, RefSeq Protein:NP_001027, RefSeq RNA:NM_001036, UCSC Genome Browser:NM_001036, UniProtKB:Q15413 No chr15 33603177 34158304 33310773 33866103 +PA34898 6271 HGNC:10486 ENSG00000160678 S100 calcium binding protein A1 S100A1 S100-alpha, S100A Yes No Comparative Toxicogenomics Database:6271, Ensembl:ENSG00000160678, GenAtlas:S100A1, GeneCard:S100A1, HGNC:HGNC:10486, HumanCyc Gene:HS08517, ModBase:P23297, NCBI Gene:6271, OMIM:176940, RefSeq DNA:NT_004487, RefSeq Protein:NP_006262, RefSeq RNA:NM_006271, UCSC Genome Browser:NM_006271, UniProtKB:B2R5D9, UniProtKB:P23297 No chr1 153600873 153604513 153628397 153632037 +PA34899 6281 HGNC:10487 ENSG00000197747 S100 calcium binding protein A10 S100A10 annexin II tetramer (AIIt) p11 subunit, calpactin I 42C, ANX2LG, CAL1L, CLP11, P11 Yes No Comparative Toxicogenomics Database:6281, Ensembl:ENSG00000197747, GenAtlas:S100A10, GeneCard:S100A10, HGNC:HGNC:10487, ModBase:P60903, NCBI Gene:6281, OMIM:114085, RefSeq DNA:NT_004487, RefSeq Protein:NP_002957, RefSeq RNA:NM_002966, UCSC Genome Browser:NM_002966, UniProtKB:P60903 No chr1 151955386 151966714 151982910 151994238 +PA34900 6282 HGNC:10488 ENSG00000163191 S100 calcium binding protein A11 S100A11 calgizzarin S100C Yes No Comparative Toxicogenomics Database:6282, Ensembl:ENSG00000163191, GenAtlas:S100A11, GeneCard:S100A11, HGNC:HGNC:10488, HumanCyc Gene:HS08800, ModBase:P31949, NCBI Gene:6282, OMIM:603114, RefSeq DNA:NT_004487, RefSeq Protein:NP_005611, RefSeq RNA:NM_005620, UCSC Genome Browser:NM_005620, UniProtKB:P31949 No chr1 152004982 152009511 152032506 152037035 +PA34903 729659 HGNC:10491 ENSG00000237632 S100 calcium binding protein A11 pseudogene 1 S100A11P1 Yes No Ensembl:ENSG00000237632, GeneCard:S100A11P1, HGNC:HGNC:10491, NCBI Gene:729659, RefSeq DNA:NG_008400, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:XP_001126350, RefSeq Protein:XP_001126471, RefSeq Protein:XP_001131859, RefSeq Protein:XP_001727085, RefSeq RNA:XM_001126350, RefSeq RNA:XM_001126471, RefSeq RNA:XM_001131859, RefSeq RNA:XM_001727033, UCSC Genome Browser:NM_021039 No chr7 102902398 102902928 103261951 103262481 +PA34901 6283 HGNC:10489 ENSG00000163221 S100 calcium binding protein A12 S100A12 calcium-binding protein in amniotic fluid 1, calgranulin C, extracellular newly identified RAGE-binding protein, migration inhibitory factor-related protein 6, neutrophil S100 protein CAAF1, CAGC, CGRP, ENRAGE, MRP6, p6 Yes No Comparative Toxicogenomics Database:6283, Ensembl:ENSG00000163221, GenAtlas:S100A12, GeneCard:S100A12, HGNC:HGNC:10489, HumanCyc Gene:HS08810, ModBase:P80511, NCBI Gene:6283, OMIM:603112, RefSeq DNA:NT_004487, RefSeq Protein:NP_005612, RefSeq RNA:NM_005621, UCSC Genome Browser:NM_005621, UniProtKB:P80511 No chr1 153346184 153348075 153373708 153375599 +PA34902 6284 HGNC:10490 ENSG00000189171 S100 calcium binding protein A13 S100A13 Yes No Comparative Toxicogenomics Database:6284, Ensembl:ENSG00000189171, GenAtlas:S100A13, GeneCard:S100A13, HGNC:HGNC:10490, ModBase:Q99584, NCBI Gene:6284, OMIM:601989, RefSeq DNA:NT_004487, RefSeq Protein:NP_001019381, RefSeq Protein:NP_001019382, RefSeq Protein:NP_001019383, RefSeq Protein:NP_001019384, RefSeq Protein:NP_005970, RefSeq RNA:NM_001024210, RefSeq RNA:NM_001024211, RefSeq RNA:NM_001024212, RefSeq RNA:NM_001024213, RefSeq RNA:NM_005979, UCSC Genome Browser:NM_005979, UniProtKB:Q99584 No chr1 153591275 153606582 153618799 153634092 +PA134905502 57402 HGNC:18901 ENSG00000189334 S100 calcium binding protein A14 S100A14 BCMP84, S100A15 Yes No Comparative Toxicogenomics Database:57402, Ensembl:ENSG00000189334, GeneCard:S100A14, HGNC:HGNC:18901, ModBase:Q9HCY8, NCBI Gene:57402, OMIM:607986, RefSeq DNA:NT_004487, RefSeq Protein:NP_065723, RefSeq RNA:NM_020672, UniProtKB:Q9HCY8 No chr1 153586731 153588808 153614255 153616917 +PA134931606 140576 HGNC:20441 ENSG00000188643 S100 calcium binding protein A16 S100A16 DT1P1A7, MGC17528, S100F Yes No Comparative Toxicogenomics Database:140576, Ensembl:ENSG00000188643, GeneCard:S100A16, HGNC:HGNC:20441, ModBase:Q96FQ6, NCBI Gene:140576, RefSeq DNA:NT_004487, RefSeq Protein:NP_525127, RefSeq RNA:NM_080388, UniProtKB:Q96FQ6 No chr1 153579362 153585514 153606883 153613168 +PA34904 6273 HGNC:10492 ENSG00000196754 S100 calcium binding protein A2 S100A2 CAN19, S100L Yes No Comparative Toxicogenomics Database:6273, Ensembl:ENSG00000196754, GenAtlas:S100A2, GeneCard:S100A2, HGNC:HGNC:10492, HumanCyc Gene:HS08516, NCBI Gene:6273, OMIM:176993, RefSeq DNA:NT_004487, RefSeq Protein:NP_005969, RefSeq RNA:NM_005978, UCSC Genome Browser:NM_005978, UniProtKB:P29034 No chr1 153533584 153538306 153561108 153565830 +PA34905 6274 HGNC:10493 ENSG00000188015 S100 calcium binding protein A3 S100A3 S100E Yes No Comparative Toxicogenomics Database:6274, Ensembl:ENSG00000188015, GenAtlas:S100A3, GeneCard:S100A3, HGNC:HGNC:10493, ModBase:P33764, NCBI Gene:6274, OMIM:176992, RefSeq DNA:NT_004487, RefSeq Protein:NP_002951, RefSeq RNA:NM_002960, UCSC Genome Browser:NM_002960, UniProtKB:P33764 No chr1 153519805 153521734 153547333 153549258 +PA34906 6275 HGNC:10494 ENSG00000196154 S100 calcium binding protein A4 S100A4 calvasculin, fibroblast-specific protein-1, murine placental homolog 18A2, 42A, CAPL, FSP1, MTS1, P9KA, PEL98 Yes No Comparative Toxicogenomics Database:6275, Ensembl:ENSG00000196154, GenAtlas:S100A4, GeneCard:S100A4, HGNC:HGNC:10494, ModBase:P26447, NCBI Gene:6275, OMIM:114210, RefSeq DNA:NT_004487, RefSeq Protein:NP_002952, RefSeq Protein:NP_062427, RefSeq RNA:NM_002961, RefSeq RNA:NM_019554, UCSC Genome Browser:NM_002961, UniProtKB:P26447 No chr1 153516095 153518282 153543619 153545806 +PA34907 6276 HGNC:10495 ENSG00000196420 S100 calcium binding protein A5 S100A5 S100D Yes No Comparative Toxicogenomics Database:6276, Ensembl:ENSG00000196420, GenAtlas:S100A5, GeneCard:S100A5, HGNC:HGNC:10495, HumanCyc Gene:HS08515, ModBase:P33763, NCBI Gene:6276, OMIM:176991, RefSeq DNA:NT_004487, RefSeq Protein:NP_002953, RefSeq RNA:NM_002962, UCSC Genome Browser:NM_002962, UniProtKB:P33763, UniProtKB:Q52LE7 No chr1 153509623 153515772 153537114 153543514 +PA34908 6277 HGNC:10496 ENSG00000197956 S100 calcium binding protein A6 S100A6 2A9, CABP, CACY, PRA Yes No Comparative Toxicogenomics Database:6277, Ensembl:ENSG00000197956, GenAtlas:S100A6, GeneCard:S100A6, HGNC:HGNC:10496, ModBase:P06703, NCBI Gene:6277, OMIM:114110, RefSeq DNA:NT_004487, RefSeq Protein:NP_055439, RefSeq RNA:NM_014624, UCSC Genome Browser:NM_014624, UniProtKB:P06703 No chr1 153507076 153508717 153534599 153536241 +PA34909 6278 HGNC:10497 ENSG00000143556 S100 calcium binding protein A7 S100A7 PSOR1, S100A7c Yes No Comparative Toxicogenomics Database:6278, Ensembl:ENSG00000143556, GenAtlas:S100A7, GeneCard:S100A7, HGNC:HGNC:10497, HumanCyc Gene:HS07078, ModBase:P31151, NCBI Gene:6278, OMIM:600353, RefSeq DNA:NT_004487, RefSeq Protein:NP_002954, RefSeq RNA:NM_002963, UCSC Genome Browser:NM_002963, UniProtKB:P31151 No chr1 153430220 153436559 153457744 153460661 +PA162402333 338324 HGNC:21657 ENSG00000184330 S100 calcium binding protein A7A S100A7A koebnerisin S100A15, S100A7L1, S100A7f Yes No Ensembl:ENSG00000184330, GeneCard:S100A7A, HGNC:HGNC:21657, NCBI Gene:338324, RefSeq DNA:NT_004487, RefSeq Protein:NP_789793, RefSeq RNA:NM_176823, UniProtKB:Q86SG5 No chr1 153389000 153395701 153416524 153423225 +PA134903327 645922 HGNC:21655 ENSG00000197364 S100 calcium binding protein A7-like 2 S100A7L2 s100a7b Yes No Ensembl:ENSG00000197364, GeneCard:S100A7L2, HGNC:HGNC:21655, ModBase:Q5SY68, NCBI Gene:645922, RefSeq DNA:NT_004487, RefSeq Protein:NP_001038944, RefSeq RNA:NM_001045479 No chr1 153409471 153412503 153436995 153440027 +PA134949514 127481 HGNC:21654 ENSG00000203781 S100 calcium binding protein A7 pseudogene 1 S100A7P1 s100a7d Yes No Ensembl:ENSG00000203781, HGNC:HGNC:21654, NCBI Gene:127481 No chr1 153399484 153400877 153427008 153428401 +PA134955536 375027 HGNC:21656 S100 calcium binding protein A7 pseudogene 2 S100A7P2 s100a7e Yes No HGNC:HGNC:21656, NCBI Gene:375027 No chr1 153417385 153419139 153444909 153446663 +PA34910 6279 HGNC:10498 ENSG00000143546 S100 calcium binding protein A8 S100A8 Calprotectin L1L subunit, Leukocyte L1 complex light chain, Migration inhibitory factor-related protein 8 60B8AG, CAGA, CFAG, CGLA, MRP-8, MRP8, P8, S100-A8 Yes No Comparative Toxicogenomics Database:6279, Ensembl:ENSG00000143546, GenAtlas:S100A8, GeneCard:S100A8, HGNC:HGNC:10498, HumanCyc Gene:HS07074, ModBase:P05109, NCBI Gene:6279, OMIM:123885, RefSeq DNA:NT_004487, RefSeq Protein:NP_002955, RefSeq RNA:NM_002964, UCSC Genome Browser:NM_002964, UniProtKB:P05109 No chr1 153362508 153395054 153390032 153422583 +PA34911 6280 HGNC:10499 ENSG00000163220 S100 calcium binding protein A9 S100A9 Calprotectin L1H subunit, Leukocyte L1 complex heavy chain, Migration inhibitory factor-related protein 14 60B8AG, CAGB, CFAG, CGLB, LIAG, MAC387, MIF, MRP-14, MRP14, NIF, P14, S100-A9 Yes No Comparative Toxicogenomics Database:6280, Ensembl:ENSG00000163220, GenAtlas:S100A9, GeneCard:S100A9, HGNC:HGNC:10499, HumanCyc Gene:HS08809, ModBase:P06702, NCBI Gene:6280, OMIM:123886, RefSeq DNA:NT_004487, RefSeq Protein:NP_002956, RefSeq RNA:NM_002965, UCSC Genome Browser:NM_002965, UniProtKB:P06702 No chr1 153330330 153333503 153357854 153361027 +PA34912 6285 HGNC:10500 ENSG00000160307 S100 calcium binding protein B S100B S100beta Yes No Comparative Toxicogenomics Database:6285, Ensembl:ENSG00000160307, GenAtlas:S100B, GeneCard:S100B, HGNC:HGNC:10500, HumanCyc Gene:HS08485, ModBase:P04271, NCBI Gene:6285, OMIM:176990, RefSeq DNA:NT_011515, RefSeq Protein:NP_006263, RefSeq RNA:NM_006272, UCSC Genome Browser:NM_006272, UniProtKB:P04271 No chr21 48018531 48025035 46598618 46605242 +PA26028 795 HGNC:1436 ENSG00000169906 S100 calcium binding protein G S100G calbindin-D9K CABP1, CABP9K, CALB3 Yes No Comparative Toxicogenomics Database:795, Ensembl:ENSG00000169906, GenAtlas:S100G, GeneCard:S100G, HGNC:HGNC:1436, HumanCyc Gene:HS10032, ModBase:P29377, NCBI Gene:795, OMIM:302020, RefSeq DNA:NT_167197, RefSeq Protein:NP_004048, RefSeq RNA:NM_004057, UCSC Genome Browser:NM_004057, UniProtKB:P29377 No chrX 16668281 16672791 16649787 16654674 +PA34913 6286 HGNC:10504 ENSG00000163993 S100 calcium binding protein P S100P Yes No Comparative Toxicogenomics Database:6286, Ensembl:ENSG00000163993, GenAtlas:S100P, GeneCard:S100P, HGNC:HGNC:10504, HumanCyc Gene:HS08977, ModBase:P25815, NCBI Gene:6286, OMIM:600614, RefSeq DNA:NT_006051, RefSeq Protein:NP_005971, RefSeq RNA:NM_005980, UCSC Genome Browser:NM_005980, UniProtKB:P25815 No chr4 6695566 6698897 6693839 6697170 +PA142670958 64766 HGNC:25768 ENSG00000116497 S100P binding protein S100PBP S100P binding protein 1 FLJ12903, S100PBPR Yes No Comparative Toxicogenomics Database:64766, Ensembl:ENSG00000116497, GeneCard:S100PBP, HGNC:HGNC:25768, HumanCyc Gene:HS12869, ModBase:Q96BU1, NCBI Gene:64766, OMIM:611889, RefSeq DNA:NT_032977, RefSeq Protein:NP_001017406, RefSeq Protein:NP_073590, RefSeq RNA:NM_001017406, RefSeq RNA:NM_022753, UniProtKB:A8MTZ6, UniProtKB:Q96BU1 No chr1 33282368 33324480 32816767 32858879 +PA134902118 170591 HGNC:30367 ENSG00000171643 S100 calcium binding protein Z S100Z Gm625, S100-zeta Yes No Ensembl:ENSG00000171643, GeneCard:S100Z, HGNC:HGNC:30367, HumanCyc Gene:HS10361, ModBase:Q8WXG8, NCBI Gene:170591, OMIM:610103, RefSeq DNA:NT_006713, RefSeq Protein:NP_570128, RefSeq RNA:NM_130772, UniProtKB:Q8WXG8 No chr5 76145826 76217056 76849953 76952882 +PA162402344 1901 HGNC:3165 ENSG00000170989 sphingosine-1-phosphate receptor 1 S1PR1 CD363, D1S3362, EDG1, edg-1 Yes No Ensembl:ENSG00000170989, GeneCard:S1PR1, HGNC:HGNC:3165, HumanCyc Gene:HS10224, IUPHAR Receptor:275, ModBase:P21453, NCBI Gene:1901, OMIM:601974, RefSeq DNA:NG_016181, RefSeq DNA:NT_032977, RefSeq Protein:NP_001391, RefSeq RNA:NM_001400, UniProtKB:P21453 No chr1 101702305 101707076 101236749 101241520 +PA162402353 9294 HGNC:3169 ENSG00000267534 sphingosine-1-phosphate receptor 2 S1PR2 AGR16, DFNB68, EDG5, Gpcr13, H218 Yes No Ensembl:ENSG00000267534, GeneCard:S1PR2, HGNC:HGNC:3169, HumanCyc Gene:HS10985, IUPHAR Receptor:276, ModBase:O95136, NCBI Gene:9294, OMIM:605111, RefSeq DNA:NT_011295, RefSeq Protein:NP_004221, RefSeq RNA:NM_004230, UniProtKB:O95136 No chr19 10332109 10341948 10221433 10231272 +PA162402362 1903 HGNC:3167 ENSG00000213694 sphingosine-1-phosphate receptor 3 S1PR3 sphingosine-1-phosphate receptor 3 C9orf108, C9orf47, EDG-3, EDG3, FLJ37523, bA791O21.3 Yes No Ensembl:ENSG00000213694, GeneCard:S1PR3, HGNC:HGNC:3167, IUPHAR Receptor:277, ModBase:Q99500, NCBI Gene:1903, OMIM:601965, RefSeq DNA:NT_008470, RefSeq Protein:NP_005217, RefSeq RNA:NM_005226, UniProtKB:Q99500 No chr9 91606324 91620070 88991409 89005155 +PA162402371 8698 HGNC:3170 ENSG00000125910 sphingosine-1-phosphate receptor 4 S1PR4 EDG6 Yes No Ensembl:ENSG00000125910, GeneCard:S1PR4, HGNC:HGNC:3170, HumanCyc Gene:HS04970, IUPHAR Receptor:278, ModBase:O95977, NCBI Gene:8698, OMIM:603751, RefSeq DNA:NT_011255, RefSeq Protein:NP_003766, RefSeq RNA:NM_003775, UniProtKB:O95977 No chr19 3178250 3180335 3178738 3180332 +PA162402378 53637 HGNC:14299 ENSG00000180739 sphingosine-1-phosphate receptor 5 S1PR5 EDG8, Edg-8 Yes No Ensembl:ENSG00000180739, GeneCard:S1PR5, HGNC:HGNC:14299, HumanCyc Gene:HS11522, IUPHAR Receptor:279, ModBase:Q9H228, NCBI Gene:53637, OMIM:605146, RefSeq DNA:NT_011295, RefSeq Protein:NP_001159687, RefSeq Protein:NP_110387, RefSeq RNA:NM_001166215, RefSeq RNA:NM_030760, UniProtKB:Q9H228 No chr19 10623418 10628668 10512742 10517992 +PA35537 6287 HGNC:10512 serum amyloid A1 cluster SAA@ SAA Yes No GenAtlas:SAA@, GeneCard:SAA@, HGNC:HGNC:10512, NCBI Gene:6287 No chr11 +PA34921 6288 HGNC:10513 ENSG00000173432 serum amyloid A1 SAA1 PIG4, SAA, TP53I4 Yes No Comparative Toxicogenomics Database:6288, Ensembl:ENSG00000173432, GenAtlas:SAA1, GeneCard:SAA1, HGNC:HGNC:10513, HumanCyc Gene:HS10664, NCBI Gene:6288, OMIM:104750, RefSeq DNA:NG_021330, RefSeq DNA:NT_009237, RefSeq Protein:NP_000322, RefSeq Protein:NP_001171477, RefSeq Protein:NP_954630, RefSeq RNA:NM_000331, RefSeq RNA:NM_001178006, RefSeq RNA:NM_199161, UCSC Genome Browser:NM_000331 No chr11 18287754 18306424 18266225 18269977 +PA34922 6289 HGNC:10514 ENSG00000134339 serum amyloid A2 SAA2 Yes No Comparative Toxicogenomics Database:6289, Ensembl:ENSG00000134339, GenAtlas:SAA2, GeneCard:SAA2, HGNC:HGNC:10514, HumanCyc Gene:HS13525, NCBI Gene:6289, OMIM:104751, RefSeq DNA:NT_009237, RefSeq Protein:NP_001120852, RefSeq Protein:NP_110381, RefSeq RNA:NM_001127380, RefSeq RNA:NM_030754, UCSC Genome Browser:NM_030754, UniProtKB:P02735 No chr11 18259780 18270221 18238233 18248674 +PA34923 6290 HGNC:10515 ENSG00000166787 serum amyloid A3 pseudogene SAA3P Yes No Ensembl:ENSG00000166787, GenAtlas:SAA3P, GeneCard:SAA3P, HGNC:HGNC:10515, NCBI Gene:6290, RefSeq DNA:NT_009237, RefSeq RNA:NR_026576 No chr11 18134019 18137679 18112472 18116132 +PA34924 6291 HGNC:10516 ENSG00000148965 serum amyloid A4, constitutive SAA4 C-SAA, CSAA Yes No Comparative Toxicogenomics Database:6291, Ensembl:ENSG00000148965, GenAtlas:SAA4, GeneCard:SAA4, HGNC:HGNC:10516, HumanCyc Gene:HS07575, NCBI Gene:6291, OMIM:104752, RefSeq DNA:NT_009237, RefSeq Protein:NP_006503, RefSeq RNA:NM_006512, UCSC Genome Browser:NM_006512, UniProtKB:P35542 No chr11 18252902 18258384 18231355 18236837 +PA142670959 113174 HGNC:25158 ENSG00000166788 serum amyloid A like 1 SAAL1 serum amyloid A-like 1 FLJ41463, SPACIA1 Yes No Ensembl:ENSG00000166788, GeneCard:SAAL1, HGNC:HGNC:25158, HumanCyc Gene:HS15482, NCBI Gene:113174, RefSeq DNA:NT_009237, RefSeq Protein:NP_612430, RefSeq RNA:NM_138421, UniProtKB:Q96ER3 No chr11 18101890 18127638 18080343 18106091 +PA142670960 29901 HGNC:30179 ENSG00000168061 SAC3 domain containing 1 SAC3D1 HSU79266, SHD1 Yes No Comparative Toxicogenomics Database:29901, Ensembl:ENSG00000168061, GeneCard:SAC3D1, HGNC:HGNC:30179, HumanCyc Gene:HS15629, NCBI Gene:29901, RefSeq DNA:NT_167190, RefSeq Protein:NP_037431, RefSeq RNA:NM_013299 No chr11 64808376 64812300 65040904 65044828 +PA34925 22908 HGNC:17059 ENSG00000211456 SAC1 like phosphatidylinositide phosphatase SACM1L SAC1 suppressor of actin mutations 1-like (yeast) KIAA0851, SAC1 Yes Yes Comparative Toxicogenomics Database:22908, Ensembl:ENSG00000211456, GenAtlas:SACM1L, GeneCard:SACM1L, HGNC:HGNC:17059, HumanCyc Gene:HS11932, NCBI Gene:22908, OMIM:606569, RefSeq DNA:NT_022517, RefSeq Protein:NP_054735, RefSeq RNA:NM_014016, UCSC Genome Browser:NM_014016, UniProtKB:Q9NTJ5 No chr3 45730754 45786901 45689241 45745425 +PA34927 26278 HGNC:10519 ENSG00000151835 sacsin molecular chaperone SACS """protein phosphatase 1, regulatory subunit 138"", ""spastic ataxia of Charlevoix-Saguenay (sacsin)""" ARSACS, DKFZp686B15167, DNAJC29, KIAA0730, PPP1R138, SPAX6 Yes No Comparative Toxicogenomics Database:26278, Ensembl:ENSG00000151835, GenAtlas:SACS, GeneCard:SACS, HGNC:HGNC:10519, ModBase:Q9NZJ4, NCBI Gene:26278, OMIM:270550, OMIM:604490, RefSeq DNA:NG_012342, RefSeq DNA:NT_024524, RefSeq Protein:NP_055178, RefSeq RNA:NM_014363, UCSC Genome Browser:NM_014363, UniProtKB:Q9NZJ4 No chr13 23902962 24007867 23328823 23433728 +PA162402387 10055 HGNC:30660 ENSG00000142230 SUMO1 activating enzyme subunit 1 SAE1 activator Of sumo 1 AOS1, FLJ3091, Sua1 Yes No Ensembl:ENSG00000142230, GeneCard:SAE1, HGNC:HGNC:30660, HumanCyc Gene:HS06911, ModBase:Q9UBE0, NCBI Gene:10055, OMIM:613294, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139185, RefSeq Protein:NP_001139186, RefSeq Protein:NP_005491, RefSeq RNA:NM_001145713, RefSeq RNA:NM_001145714, RefSeq RNA:NM_005500, RefSeq RNA:NR_027280, UniProtKB:B3KMQ2, UniProtKB:Q9UBE0 No chr19 47634080 47713893 47130782 47210636 +PA34928 6294 HGNC:10520 ENSG00000160633 scaffold attachment factor B SAFB Hsp27 ERE-TATA binding protein HET, SAFB1 Yes No Ensembl:ENSG00000160633, GenAtlas:SAFB, GeneCard:SAFB, HGNC:HGNC:10520, HumanCyc Gene:HS08513, ModBase:Q15424, NCBI Gene:6294, OMIM:602895, RefSeq DNA:NT_011255, RefSeq Protein:NP_001188267, RefSeq Protein:NP_001188268, RefSeq Protein:NP_001188269, RefSeq Protein:NP_002958, RefSeq RNA:NM_001201338, RefSeq RNA:NM_001201339, RefSeq RNA:NM_001201340, RefSeq RNA:NM_002967, RefSeq RNA:NR_037699, UCSC Genome Browser:NM_002967, UniProtKB:Q15424 No chr19 5623046 5668489 5623035 5668478 +PA134987683 9667 HGNC:21605 ENSG00000130254 scaffold attachment factor B2 SAFB2 KIAA0138 Yes No Ensembl:ENSG00000130254, GeneCard:SAFB2, HGNC:HGNC:21605, HumanCyc Gene:HS05359, ModBase:Q14151, NCBI Gene:9667, OMIM:608066, RefSeq DNA:NT_011255, RefSeq Protein:NP_055464, RefSeq RNA:NM_014649, UniProtKB:Q14151 No chr19 5587007 5622991 5586993 5622927 +PA34929 6295 HGNC:10521 ENSG00000130561 S-antigen visual arrestin SAG S-antigen; retina and pineal gland (arrestin), arrestin 1, rod arrestin ARRESTIN, RP47 Yes No Comparative Toxicogenomics Database:6295, Ensembl:ENSG00000130561, GenAtlas:SAG, GeneCard:SAG, HGNC:HGNC:10521, HumanCyc Gene:HS05404, ModBase:P10523, NCBI Gene:6295, OMIM:181031, OMIM:258100, RefSeq DNA:NG_009116, RefSeq DNA:NT_005120, RefSeq Protein:NP_000532, RefSeq RNA:NM_000541, UCSC Genome Browser:NM_000541, UniProtKB:A0FDN6, UniProtKB:P10523 No chr2 234216309 234255701 233307663 233347066 +PA134909712 55511 HGNC:30369 ENSG00000181433 sarcoma antigen 1 SAGE1 cancer/testis antigen 14 CT14, SAGE Yes No Ensembl:ENSG00000181433, GeneCard:SAGE1, HGNC:HGNC:30369, HumanCyc Gene:HS11617, ModBase:Q9NXZ1, NCBI Gene:55511, OMIM:300359, RefSeq DNA:NG_012571, RefSeq DNA:NT_011786, RefSeq Protein:NP_061136, RefSeq RNA:NM_018666, UniProtKB:Q9NXZ1 No chrX 134975785 134995221 135893607 135913061 +PA34932 6299 HGNC:10524 ENSG00000103449 spalt like transcription factor 1 SALL1 sal-like 1 (Drosophila), spalt-like transcription factor 1 Hsal1, TBS, ZNF794 Yes No Comparative Toxicogenomics Database:6299, Ensembl:ENSG00000103449, GenAtlas:SALL1, GeneCard:SALL1, HGNC:HGNC:10524, HumanCyc Gene:HS02505, ModBase:Q9NSC2, NCBI Gene:6299, OMIM:107480, OMIM:602218, RefSeq DNA:NG_007990, RefSeq DNA:NT_010498, RefSeq Protein:NP_001121364, RefSeq Protein:NP_002959, RefSeq RNA:NM_001127892, RefSeq RNA:NM_002968, UCSC Genome Browser:NM_002968, UniProtKB:Q9NSC2 No chr16 51169886 51185183 51135975 51152386 +PA34933 139163 HGNC:10525 ENSG00000227391 sal-like 1 (Drosophila) pseudogene 1 SALL1P1 Yes No Ensembl:ENSG00000227391, GenAtlas:SALL1P, GeneCard:SALL1P1, HGNC:HGNC:10525, NCBI Gene:139163, RefSeq DNA:NG_009881, RefSeq DNA:NT_086939 No chrX 49428331 49433293 49663728 49668690 +PA34934 6297 HGNC:10526 ENSG00000165821 spalt like transcription factor 2 SALL2 sal-like 2 (Drosophila), spalt-like transcription factor 2 Hsal2, KIAA0360, ZNF795 Yes No Ensembl:ENSG00000165821, GenAtlas:SALL2, GeneCard:SALL2, HGNC:HGNC:10526, HumanCyc Gene:HS09290, ModBase:Q9Y467, NCBI Gene:6297, OMIM:602219, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437, RefSeq Protein:NP_005398, RefSeq RNA:NM_005407, UniProtKB:Q9Y467 No chr14 21989231 22005337 21521080 21537216 +PA34935 27164 HGNC:10527 ENSG00000151514, ENSG00000256463 spalt like transcription factor 3 SALL3 sal-like 3 (Drosophila), spalt-like transcription factor 3 ZNF796 Yes No Ensembl:ENSG00000151514, Ensembl:ENSG00000256463, GenAtlas:SALL3, GeneCard:SALL3, HGNC:HGNC:10527, HumanCyc Gene:HS07744, ModBase:Q9BXA9, NCBI Gene:27164, OMIM:605079, RefSeq DNA:NT_025028, RefSeq Protein:NP_741996, RefSeq RNA:NM_171999, UCSC Genome Browser:NM_171999, UniProtKB:Q9BXA9 No chr18 76740275 76759770 78980275 78998969 +PA34936 57167 HGNC:15924 ENSG00000101115 spalt like transcription factor 4 SALL4 sal-like 4 (Drosophila), spalt-like transcription factor 4 ZNF797, dJ1112F19.1 Yes No Comparative Toxicogenomics Database:57167, Ensembl:ENSG00000101115, GenAtlas:SALL4, GeneCard:SALL4, HGNC:HGNC:15924, HumanCyc Gene:HS02195, ModBase:Q9UJQ4, NCBI Gene:57167, OMIM:147750, OMIM:607323, OMIM:607343, RefSeq DNA:NG_008000, RefSeq DNA:NT_011362, RefSeq Protein:NP_065169, RefSeq RNA:NM_020436, UCSC Genome Browser:NM_020436, UniProtKB:Q9UJQ4 No chr20 50400551 50419059 51782717 51802523 +PA34937 90378 HGNC:17958 ENSG00000141858 sterile alpha motif domain containing 1 SAMD1 Yes No Ensembl:ENSG00000141858, GenAtlas:SAMD1, GeneCard:SAMD1, HGNC:HGNC:17958, ModBase:Q6SPF0, NCBI Gene:90378, RefSeq DNA:NT_011295, RefSeq Protein:NP_612361, RefSeq RNA:NM_138352, UniProtKB:Q6SPF0 No chr19 14199229 14201232 14088417 14090420 +PA25678 140700 HGNC:16129 ENSG00000130590 sterile alpha motif domain containing 10 SAMD10 C20orf136 Yes No Ensembl:ENSG00000130590, GenAtlas:SAMD10, GeneCard:SAMD10, HGNC:HGNC:16129, HumanCyc Gene:HS13340, ModBase:Q9BYL1, NCBI Gene:140700, RefSeq DNA:NT_011333, RefSeq Protein:NP_542188, RefSeq RNA:NM_080621, UCSC Genome Browser:NM_080621, UniProtKB:Q9BYL1 No chr20 62605466 62611182 63974113 63980788 +PA134968665 148398 HGNC:28706 ENSG00000187634 sterile alpha motif domain containing 11 SAMD11 MGC45873 Yes No Ensembl:ENSG00000187634, GeneCard:SAMD11, HGNC:HGNC:28706, NCBI Gene:148398, RefSeq DNA:NT_004350, RefSeq Protein:NP_689699, RefSeq RNA:NM_152486, UniProtKB:Q96NU1 No chr1 859993 879961 925741 944581 +PA134993493 401474 HGNC:31750 ENSG00000177570 sterile alpha motif domain containing 12 SAMD12 FLJ39458 Yes No Ensembl:ENSG00000177570, GeneCard:SAMD12, HGNC:HGNC:31750, ModBase:Q8N8I0, NCBI Gene:401474, RefSeq DNA:NT_008046, RefSeq Protein:NP_001095146, RefSeq Protein:NP_997389, RefSeq RNA:NM_001101676, RefSeq RNA:NM_207506, UniProtKB:B8ZZB7, UniProtKB:Q8N8I0 No chr8 119201694 119634184 118131828 118621995 +PA165585765 552860 HGNC:30937 ENSG00000281641 SAMD12 antisense RNA 1 SAMD12-AS1 Yes No Ensembl:ENSG00000281641, GeneCard:NCRNA00252, HGNC:HGNC:30937, NCBI Gene:552860, RefSeq RNA:NR_038210 No chr8 119633240 119738306 118621001 118726067 +PA142670952 148418 HGNC:24582 ENSG00000203943 sterile alpha motif domain containing 13 SAMD13 Yes No Ensembl:ENSG00000203943, GeneCard:SAMD13, HGNC:HGNC:24582, ModBase:Q5VXD3, NCBI Gene:148418, RefSeq DNA:NT_032977, RefSeq Protein:NP_001010971, RefSeq Protein:NP_001128135, RefSeq Protein:NP_001128136, RefSeq RNA:NM_001010971, RefSeq RNA:NM_001134663, RefSeq RNA:NM_001134664, UniProtKB:Q5VXD3 No chr1 84764049 84816481 84298366 84350798 +PA142670953 201191 HGNC:27312 ENSG00000167100 sterile alpha motif domain containing 14 SAMD14 FLJ36890 Yes No Ensembl:ENSG00000167100, GeneCard:SAMD14, HGNC:HGNC:27312, ModBase:Q8IZD0, NCBI Gene:201191, RefSeq DNA:NT_010783, RefSeq Protein:NP_777580, RefSeq RNA:NM_174920, UniProtKB:Q8IZD0 No chr17 48188673 48207246 50111309 50129882 +PA134903169 161394 HGNC:18631 ENSG00000100583 sterile alpha motif domain containing 15 SAMD15 C14orf174, FAM15A, FLJ35963 Yes No Ensembl:ENSG00000100583, GeneCard:C14orf174, HGNC:HGNC:18631, ModBase:Q9P1V8, NCBI Gene:161394, RefSeq DNA:NT_026437, RefSeq Protein:NP_001010860, RefSeq RNA:NM_001010860, UniProtKB:Q9P1V8 No chr14 77843762 77857587 77377419 77391244 +PA134880481 154075 HGNC:21574 ENSG00000164483 sterile alpha motif domain containing 3 SAMD3 FLJ34032, bA73O6.2 Yes No Ensembl:ENSG00000164483, GeneCard:SAMD3, HGNC:HGNC:21574, HumanCyc Gene:HS15200, ModBase:Q8N6K7, NCBI Gene:154075, RefSeq DNA:NT_025741, RefSeq Protein:NP_001017373, RefSeq Protein:NP_689765, RefSeq RNA:NM_001017373, RefSeq RNA:NM_152552, UniProtKB:Q8N6K7 No chr6 130465447 130686570 130133203 130365425 +PA128394596 23034 HGNC:23023 ENSG00000020577 sterile alpha motif domain containing 4A SAMD4A smaug homolog (Drosophila) DKFZP434H0350, KIAA1053, SAMD4, SMG, SMGA, Smaug, hSmaug1 Yes No Ensembl:ENSG00000020577, GenAtlas:SAMD4A, GeneCard:SAMD4A, HGNC:HGNC:23023, HumanCyc Gene:HS12063, ModBase:Q9UPU9, NCBI Gene:23034, OMIM:610747, RefSeq DNA:NT_026437, RefSeq Protein:NP_001155048, RefSeq Protein:NP_001155049, RefSeq Protein:NP_056404, RefSeq RNA:NM_001161576, RefSeq RNA:NM_001161577, RefSeq RNA:NM_015589, UCSC Genome Browser:NM_015589, UniProtKB:Q8WW19, UniProtKB:Q9UPU9 No chr14 55033815 55260033 54567612 54793315 +PA143485607 55095 HGNC:25492 ENSG00000179134 sterile alpha motif domain containing 4B SAMD4B smaug homolog B (Drosophila) FLJ10211, MGC99832, SMGB, hSmaug2 Yes No Ensembl:ENSG00000179134, GeneCard:SAMD4B, HGNC:HGNC:25492, ModBase:Q5PRF9, NCBI Gene:55095, RefSeq DNA:NT_011109, RefSeq Protein:NP_060498, RefSeq RNA:NM_018028, UniProtKB:A5Z0M6, UniProtKB:Q5PRF9 No chr19 39833108 39876340 39342459 39390748 +PA134888862 389432 HGNC:21180 ENSG00000203727 sterile alpha motif domain containing 5 SAMD5 dJ875H10.1 Yes No Ensembl:ENSG00000203727, GeneCard:SAMD5, HGNC:HGNC:21180, ModBase:Q5TGI4, NCBI Gene:389432, RefSeq DNA:NT_025741, RefSeq Protein:NP_001025231, RefSeq RNA:NM_001030060, UniProtKB:Q5TGI4 No chr6 147829807 148058677 147508692 147948291 +PA134861212 344658 HGNC:25394 ENSG00000187033 sterile alpha motif domain containing 7 SAMD7 DKFZp686E1583 Yes No Ensembl:ENSG00000187033, GeneCard:SAMD7, HGNC:HGNC:25394, ModBase:Q7Z3H4, NCBI Gene:344658, RefSeq DNA:NT_005612, RefSeq Protein:NP_872416, RefSeq RNA:NM_182610, UniProtKB:Q7Z3H4 No chr3 169629360 169656963 169911572 169939175 +PA134868247 142891 HGNC:26320 ENSG00000156671 sterile alpha motif domain containing 8 SAMD8 ceramide phosphoethanolamine synthase, sphingomyelin synthase related FLJ25082, SMSr Yes No Ensembl:ENSG00000156671, GeneCard:SAMD8, HGNC:HGNC:26320, HumanCyc Gene:HS14629, ModBase:Q96LT4, NCBI Gene:142891, OMIM:611575, RefSeq DNA:NT_030059, RefSeq Protein:NP_001167627, RefSeq Protein:NP_653261, RefSeq RNA:NM_001174156, RefSeq RNA:NM_144660, UniProtKB:Q96LT4 No chr10 76871275 76941881 75099592 75182123 +PA25948 54809 HGNC:1348 ENSG00000205413 sterile alpha motif domain containing 9 SAMD9 C7orf5, FLJ20073, KIAA2004 Yes No Comparative Toxicogenomics Database:54809, Ensembl:ENSG00000205413, GenAtlas:SAMD9, GeneCard:SAMD9, HGNC:HGNC:1348, ModBase:Q5K651, NCBI Gene:54809, OMIM:610455, OMIM:610456, RefSeq DNA:NG_023419, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001180236, RefSeq Protein:NP_060124, RefSeq RNA:NM_001193307, RefSeq RNA:NM_017654, UniProtKB:Q5K651 No chr7 92728826 92747336 93099513 93118023 +PA25949 219285 HGNC:1349 ENSG00000177409 sterile alpha motif domain containing 9 like SAMD9L sterile alpha motif domain containing 9-like C7orf6, FLJ39885, KIAA2005 Yes No Ensembl:ENSG00000177409, GenAtlas:SAMD9L, GeneCard:SAMD9L, HGNC:HGNC:1349, HumanCyc Gene:HS16850, ModBase:Q8IWI4, NCBI Gene:219285, OMIM:611170, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_689916, RefSeq RNA:NM_152703, UniProtKB:Q8IVG5 No chr7 92759368 92777689 93130054 93148401 +PA34938 25939 HGNC:15925 ENSG00000101347 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 SAMHD1 Aicardi-Goutieres syndrome 5, HD domain containing 1, SAM domain and HD domain 1, monocyte protein 5 AGS5, HDDC1, MOP-5, Mg11, SBBI88 Yes Yes Comparative Toxicogenomics Database:25939, Ensembl:ENSG00000101347, GenAtlas:SAMHD1, GeneCard:SAMHD1, HGNC:HGNC:15925, HumanCyc Gene:HS02250, ModBase:Q9Y3Z3, NCBI Gene:25939, OMIM:606754, OMIM:612952, RefSeq DNA:NG_017059, RefSeq DNA:NT_011362, RefSeq Protein:NP_056289, RefSeq RNA:NM_015474, UCSC Genome Browser:NM_015474, UniProtKB:Q59H15, UniProtKB:Q9Y3Z3 No chr20 35519285 35580246 36890882 36951843 +PA142670954 25813 HGNC:24276 ENSG00000100347 SAMM50 sorting and assembly machinery component SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae) CGI-51, OMP85, SAM50, TOB55, TRG-3, YNL026W Yes No Ensembl:ENSG00000100347, GeneCard:SAMM50, HGNC:HGNC:24276, HumanCyc Gene:HS02053, ModBase:Q9Y512, NCBI Gene:25813, OMIM:612058, RefSeq DNA:NT_011520, RefSeq Protein:NP_056195, RefSeq RNA:NM_015380, UniProtKB:Q9Y512 No chr22 44351261 44392412 43955381 43996532 +PA34939 64092 HGNC:10528 ENSG00000155307 SAM domain, SH3 domain and nuclear localization signals 1 SAMSN1 """SAM and SH3 domain containing 2"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"", ""hematopoietic adapter-containing SH3 and sterile α-motif (SAM) domains 1"", ""hematopoietic adapter-containing SH3 and sterile a-motif (SAM) domains 1"", ""hematopoietic adapter-containing SH3 and sterile α-motif (SAM) domains 1"", ""nuclear localization signals, SAM and SH3 domain containing 1""" HACS1, NASH1, SASH2, SH3D6B, SLy2 Yes No Comparative Toxicogenomics Database:64092, Ensembl:ENSG00000155307, GenAtlas:SAMSN1, GeneCard:SAMSN1, HGNC:HGNC:10528, HumanCyc Gene:HS14562, ModBase:Q9NSI8, NCBI Gene:64092, OMIM:607978, RefSeq DNA:NT_011512, RefSeq Protein:NP_071419, RefSeq RNA:NM_022136, UCSC Genome Browser:NM_022136, UniProtKB:Q9NSI8 No chr21 15857549 15955723 14485228 14583402 +PA162380700 154743 HGNC:26475 ENSG00000164603 S-adenosylmethionine sensor upstream of mTORC1 SAMTOR base methyltransferase of 25S rRNA 2 homolog, chromosome 7 open reading frame 60, hypothetical protein FLJ31818 BMT2, C7orf60, DKFZp762M126, FLJ31818, SAMTOR Yes No Ensembl:ENSG00000164603, GeneCard:C7orf60, HGNC:HGNC:26475, HumanCyc Gene:HS15217, ModBase:Q1RMZ1, NCBI Gene:154743, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_689769, RefSeq RNA:NM_152556, UniProtKB:Q1RMZ1 No chr7 112459202 112579932 112819147 112939877 +PA166352088 84542 HGNC:29387 SANT and BTB domain regulator of CSR SANBR KIAA1841 Yes No HGNC:HGNC:29387, NCBI Gene:84542 No 0 0 0 0 +PA143485608 79595 HGNC:29813 ENSG00000136715 Sin3A associated protein 130 SAP130 Sin3A-associated protein, 130kDa FLJ12761 Yes No Ensembl:ENSG00000136715, GeneCard:SAP130, HGNC:HGNC:29813, HumanCyc Gene:HS13636, ModBase:Q9H0E3, NCBI Gene:79595, OMIM:609697, RefSeq DNA:NT_022135, RefSeq Protein:NP_001139400, RefSeq Protein:NP_078821, RefSeq RNA:NM_001145928, RefSeq RNA:NM_024545, UniProtKB:B7ZLM3, UniProtKB:Q9H0E3 No chr2 128698791 128785667 127941217 128028093 +PA34940 10284 HGNC:10530 ENSG00000150459 Sin3A associated protein 18 SAP18 Sin3A-associated protein, 18kDa 2HOR0202, MGC27131, SAP18p Yes No Comparative Toxicogenomics Database:10284, Ensembl:ENSG00000150459, GenAtlas:SAP18, GeneCard:SAP18, HGNC:HGNC:10530, HumanCyc Gene:HS07671, ModBase:O00422, NCBI Gene:10284, OMIM:602949, RefSeq DNA:NT_024524, RefSeq Protein:NP_005861, RefSeq RNA:NM_005870, UCSC Genome Browser:NM_005870, UniProtKB:O00422 No chr13 21714653 21723224 21140514 21149085 +PA166049074 100316904 HGNC:41908 ENSG00000205307 Sin3A associated protein 25 SAP25 Sin3A-associated protein, 25kDa FLJ00248 Yes No Ensembl:ENSG00000205307, HGNC:HGNC:41908, NCBI Gene:100316904 No chr7 100169851 100171487 100572225 100573864 +PA34941 8819 HGNC:10532 ENSG00000164105 Sin3A associated protein 30 SAP30 Sin3A-associated protein, 30kDa Yes No Comparative Toxicogenomics Database:8819, Ensembl:ENSG00000164105, GenAtlas:SAP30, GeneCard:SAP30, HGNC:HGNC:10532, HumanCyc Gene:HS09013, ModBase:O75446, NCBI Gene:8819, OMIM:603378, RefSeq DNA:NT_016354, RefSeq Protein:NP_003855, RefSeq RNA:NM_003864, UCSC Genome Browser:NM_003864, UniProtKB:O75446 No chr4 174292093 174298683 173370942 173377532 +PA142670955 29115 HGNC:30785 ENSG00000161526 SAP30 binding protein SAP30BP HCNGP, HTRG, HTRP Yes No Comparative Toxicogenomics Database:29115, Ensembl:ENSG00000161526, GeneCard:SAP30BP, HGNC:HGNC:30785, HumanCyc Gene:HS14863, ModBase:Q9UHR5, NCBI Gene:29115, OMIM:610218, RefSeq DNA:NT_010783, RefSeq Protein:NP_037392, RefSeq RNA:NM_013260, UniProtKB:Q9UHR5 No chr17 73663399 73704139 75667116 75708062 +PA144596386 79685 HGNC:25663 ENSG00000164576 SAP30 like SAP30L SAP30-like FLJ11526, NS4ATP2 Yes No Comparative Toxicogenomics Database:79685, Ensembl:ENSG00000164576, GeneCard:SAP30L, HGNC:HGNC:25663, HumanCyc Gene:HS15214, NCBI Gene:79685, OMIM:610398, RefSeq DNA:NT_029289, RefSeq Protein:NP_001124534, RefSeq Protein:NP_001124535, RefSeq Protein:NP_078908, RefSeq RNA:NM_001131062, RefSeq RNA:NM_001131063, RefSeq RNA:NM_024632, RefSeq RNA:NR_024084, UniProtKB:Q9HAJ7 No chr5 153825517 153840613 154445957 154461053 +PA134974558 401251 HGNC:13938 ENSG00000227074, ENSG00000227861, ENSG00000228727, ENSG00000229176, ENSG00000234951, ENSG00000237918 suppressor APC domain containing 1 SAPCD1 C6orf26, NG23 Yes No Ensembl:ENSG00000227074, Ensembl:ENSG00000227861, Ensembl:ENSG00000228727, Ensembl:ENSG00000229176, Ensembl:ENSG00000234951, Ensembl:ENSG00000237918, GeneCard:C6orf26, HGNC:HGNC:13938, NCBI Gene:401251, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167249, RefSeq Protein:NP_001034740, RefSeq RNA:NM_001039651, UniProtKB:A2ABS9, UniProtKB:Q5SSQ6 No chr6 31730773 31732627 31762996 31764850 +PA134959870 89958 HGNC:28055 ENSG00000186193 suppressor APC domain containing 2 SAPCD2 C9orf140, p42.3 Yes No Ensembl:ENSG00000186193, GeneCard:C9orf140, HGNC:HGNC:28055, NCBI Gene:89958, OMIM:612057, RefSeq DNA:NT_024000, RefSeq Protein:NP_848543, RefSeq RNA:NM_178448, UniProtKB:Q86UD0 No chr9 139956579 139965028 137062127 137070576 +PA34942 56681 HGNC:10534 ENSG00000079332 secretion associated Ras related GTPase 1A SAR1A """SAR1 homolog A (S. cerevisiae)"", ""secretion associated, Ras related GTPase 1A""" SAR1, SARA1, Sara Yes No Comparative Toxicogenomics Database:56681, Ensembl:ENSG00000079332, GenAtlas:SAR1A, GeneCard:SAR1A, HGNC:HGNC:10534, ModBase:Q9NR31, NCBI Gene:56681, OMIM:607691, RefSeq DNA:NT_030059, RefSeq Protein:NP_001136120, RefSeq Protein:NP_064535, RefSeq RNA:NM_001142648, RefSeq RNA:NM_020150, UCSC Genome Browser:NM_020150, UniProtKB:Q5SQT9, UniProtKB:Q9NR31 No chr10 71909960 71930285 70150204 70170529 +PA134863155 646260 HGNC:13983 ENSG00000228364 SAR1 homolog A (S. cerevisiae) pseudogene 1 SAR1AP1 SARAP1, dJ88J8.3, hsSARA-p Yes No Ensembl:ENSG00000228364, HGNC:HGNC:13983, NCBI Gene:646260, RefSeq DNA:NG_009576, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_113892, RefSeq RNA:XR_037664, RefSeq RNA:XR_038207, RefSeq RNA:XR_038436, RefSeq RNA:XR_038880, RefSeq RNA:XR_038939 No chr6 29042193 29045018 29074416 29077241 +PA142670956 641312 HGNC:20770 ENSG00000213170 SAR1 homolog A (S. cerevisiae) pseudogene 2 SAR1AP2 Em:AC026226.2, SARA1P Yes No Ensembl:ENSG00000213170, HGNC:HGNC:20770, NCBI Gene:641312, RefSeq DNA:NG_009478 No chr10 127961297 127961891 126272728 126273322 +PA142670957 344988 HGNC:32317 ENSG00000225665 SAR1 homolog A (S. cerevisiae) pseudogene 3 SAR1AP3 Yes No Ensembl:ENSG00000225665, HGNC:HGNC:32317, NCBI Gene:344988, RefSeq DNA:NG_009719, RefSeq DNA:NT_016354, RefSeq Protein:XP_001714206, RefSeq Protein:XP_293671, RefSeq Protein:XP_941524, RefSeq RNA:XM_001714154, RefSeq RNA:XM_293671, RefSeq RNA:XM_936431 No chr4 121263135 121266015 120341980 120344860 +PA34943 51128 HGNC:10535 ENSG00000152700 secretion associated Ras related GTPase 1B SAR1B """SAR1 homolog B (S. cerevisiae)"", ""secretion associated, Ras related GTPase 1B""" SARA2 Yes No Comparative Toxicogenomics Database:51128, Ensembl:ENSG00000152700, GenAtlas:SAR1B, GeneCard:SAR1B, HGNC:HGNC:10535, HumanCyc Gene:HS07849, ModBase:Q9Y6B6, NCBI Gene:51128, OMIM:246700, OMIM:607690, RefSeq DNA:NG_017002, RefSeq DNA:NT_034772, RefSeq Protein:NP_001028675, RefSeq Protein:NP_057187, RefSeq RNA:NM_001033503, RefSeq RNA:NM_016103, UniProtKB:Q9Y6B6 No chr5 133936839 133968533 134601149 134632843 +PA142670779 51669 HGNC:28789 ENSG00000133872 store-operated calcium entry associated regulatory factor SARAF SOCE-associated regulatory factor, store-operated calcium entry-associated regulatory factor, transmembrane protein 66 MGC8721, TMEM66 Yes No Comparative Toxicogenomics Database:51669, Ensembl:ENSG00000133872, GeneCard:TMEM66, HGNC:HGNC:28789, HumanCyc Gene:HS13498, ModBase:Q96BY9, NCBI Gene:51669, RefSeq DNA:NT_167187, RefSeq Protein:NP_057211, RefSeq RNA:NM_016127, UniProtKB:Q96BY9 No chr8 29920609 29940649 30063012 30083458 +PA34944 1757 HGNC:10536 ENSG00000123453 sarcosine dehydrogenase SARDH DMGDHL1, SDH Yes No Comparative Toxicogenomics Database:1757, Ensembl:ENSG00000123453, GenAtlas:SARDH, GeneCard:SARDH, HGNC:HGNC:10536, HumanCyc Gene:HS11235, ModBase:Q9UL12, NCBI Gene:1757, OMIM:268900, OMIM:604455, RefSeq DNA:NG_008987, RefSeq DNA:NT_035014, RefSeq Protein:NP_001128179, RefSeq Protein:NP_009032, RefSeq RNA:NM_001134707, RefSeq RNA:NM_007101, UCSC Genome Browser:NM_007101, UniProtKB:A8K596, UniProtKB:Q9UL12 No chr9 136528682 136605077 133663074 133739958 +PA134971180 23098 HGNC:17074 ENSG00000004139 sterile alpha and TIR motif containing 1 SARM1 KIAA0524, SAMD2, SARM Yes No Ensembl:ENSG00000004139, GeneCard:SARM1, HGNC:HGNC:17074, HumanCyc Gene:HS00100, ModBase:Q6SZW1, NCBI Gene:23098, OMIM:607732, RefSeq DNA:NT_010799, RefSeq Protein:NP_055892, RefSeq RNA:NM_015077, UniProtKB:Q6SZW1 No chr17 26698683 26728062 28371662 28401045 +PA165513309 84324 HGNC:24432 ENSG00000205323 SAP domain containing ribonucleoprotein SARNP cytokine induced protein 29 kDa, hepatocellular carcinoma 1 CIP29, Hcc-1, THO1 Yes No Ensembl:ENSG00000205323, GeneCard:SARNP, HGNC:HGNC:24432, HumanCyc Gene:HS05995, NCBI Gene:84324, OMIM:610049, RefSeq DNA:NT_029419, RefSeq Protein:NP_149073, RefSeq RNA:NM_033082, RefSeq RNA:NR_026722, RefSeq RNA:NR_026723, UniProtKB:P82979 No chr12 56146247 56211540 55752463 55817756 +PA34945 6301 HGNC:10537 seryl-tRNA synthetase 1 SARS1 """serine tRNA ligase 1, cytoplasmic"", ""seryl-tRNA synthetase""" SARS, SERS Yes No Comparative Toxicogenomics Database:6301, GenAtlas:SARS, GeneCard:SARS, HGNC:HGNC:10537, HumanCyc Gene:HS00481, ModBase:P49591, NCBI Gene:6301, OMIM:607529, RefSeq DNA:NT_032977, RefSeq Protein:NP_006504, RefSeq RNA:NM_006513, RefSeq RNA:NR_034072, RefSeq RNA:NR_034073, UCSC Genome Browser:NM_006513, UniProtKB:P49591 No chr1 109756515 109780804 109213893 109238182 +PA134899753 54938 HGNC:17697 ENSG00000104835 seryl-tRNA synthetase 2, mitochondrial SARS2 serine tRNA ligase 2, mitochondrial FLJ20450, SARS, SARSM, SERS, SYS, SerRSmt, mtSerRS Yes No Ensembl:ENSG00000104835, GeneCard:SARS2, HGNC:HGNC:17697, HumanCyc Gene:HS02631, ModBase:Q9NP81, NCBI Gene:54938, OMIM:612804, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139373, RefSeq Protein:NP_060297, RefSeq RNA:NM_001145901, RefSeq RNA:NM_017827, UniProtKB:B4DE10, UniProtKB:Q9NP81 No chr19 39405904 39421536 38915264 38930896 +PA34947 9092 HGNC:10538 ENSG00000175467 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP SART1 hypoxia associated factor, small nuclear ribonucleoprotein 110kDa (U4/U6.U5), squamous cell carcinoma antigen recognized by T cells Ara1, HAF, SNRNP110, Snu66 Yes No Comparative Toxicogenomics Database:9092, Ensembl:ENSG00000175467, GenAtlas:SART1, GeneCard:SART1, HGNC:HGNC:10538, HumanCyc Gene:HS10934, ModBase:O43290, NCBI Gene:9092, OMIM:605941, RefSeq DNA:NT_167190, RefSeq Protein:NP_005137, RefSeq RNA:NM_005146, UCSC Genome Browser:NM_005146, UniProtKB:O43290 No chr11 65729160 65747607 65961689 65980136 +PA34948 9733 HGNC:16860 ENSG00000075856 spliceosome associated factor 3, U4/U6 recycling protein SART3 HIV-1 Tat-interacting protein of 110kDa, PRP24 homolog, squamous cell carcinoma antigen recognized by T cells 3 KIAA0156, RP11-13G14, TIP110, p110 Yes No Comparative Toxicogenomics Database:9733, Ensembl:ENSG00000075856, GenAtlas:SART3, GeneCard:SART3, HGNC:HGNC:16860, HumanCyc Gene:HS01190, ModBase:Q15020, NCBI Gene:9733, OMIM:175900, OMIM:611684, RefSeq DNA:NG_012155, RefSeq DNA:NT_029419, RefSeq Protein:NP_055521, RefSeq RNA:NM_014706, UCSC Genome Browser:NM_014706, UniProtKB:Q15020 No chr12 108915991 108955165 108522214 108561402 +PA134984521 23328 HGNC:19182 ENSG00000111961 SAM and SH3 domain containing 1 SASH1 KIAA0790, SH3D6A, dJ323M4.1 Yes No Comparative Toxicogenomics Database:23328, Ensembl:ENSG00000111961, GeneCard:SASH1, HGNC:HGNC:19182, HumanCyc Gene:HS12761, ModBase:O94885, NCBI Gene:23328, OMIM:607955, RefSeq DNA:NT_025741, RefSeq Protein:NP_056093, RefSeq RNA:NM_015278, UniProtKB:O94885 No chr6 148663729 148873185 148193440 148552049 +PA162402388 54440 HGNC:15975 ENSG00000122122 SAM and SH3 domain containing 3 SASH3 753P9, CXorf9, HACS2, SH3D6C, SLY Yes No Ensembl:ENSG00000122122, GeneCard:SASH3, HGNC:HGNC:15975, HumanCyc Gene:HS13042, ModBase:O75995, NCBI Gene:54440, OMIM:300441, RefSeq DNA:NG_013260, RefSeq DNA:NT_011786, RefSeq Protein:NP_061863, RefSeq RNA:NM_018990, UniProtKB:O75995 No chrX 128913892 128929177 129779916 129795201 +PA142670950 163786 HGNC:25403 ENSG00000156876 SAS-6 centriolar assembly protein SASS6 spindle assembly 6 homolog (C. elegans) DKFZp761A078, FLJ22097, SAS-6, SAS6 Yes No Comparative Toxicogenomics Database:163786, Ensembl:ENSG00000156876, GeneCard:SASS6, HGNC:HGNC:25403, ModBase:Q6UVJ0, NCBI Gene:163786, OMIM:609321, RefSeq DNA:NT_032977, RefSeq Protein:NP_919268, RefSeq RNA:NM_194292, UniProtKB:Q6UVJ0 No chr1 100549100 100598518 100082632 100133095 +PA162402389 6303 HGNC:10540 ENSG00000130066 spermidine/spermine N1-acetyltransferase 1 SAT1 diamine N-acetyltransferase 1 KFSD, SAT, SSAT Yes No Ensembl:ENSG00000130066, GeneCard:SAT1, HGNC:HGNC:10540, HumanCyc Gene:HS05339, ModBase:P21673, NCBI Gene:6303, OMIM:308800, OMIM:313020, RefSeq DNA:NG_012929, RefSeq DNA:NT_167197, RefSeq Protein:NP_002961, RefSeq RNA:NM_002970, RefSeq RNA:NR_027783, UniProtKB:P21673, UniProtKB:Q6ICU9 No chrX 23801275 23804327 23783158 23786223 +PA134979941 112483 HGNC:23160 ENSG00000141504 spermidine/spermine N1-acetyltransferase family member 2 SAT2 diamine N-acetyltransferase 2, thialysine N-epsilon-acetyltransferase SSAT2 Yes No Comparative Toxicogenomics Database:112483, Ensembl:ENSG00000141504, GeneCard:SAT2, HGNC:HGNC:23160, HumanCyc Gene:HS06837, ModBase:Q96F10, NCBI Gene:112483, OMIM:611463, RefSeq DNA:NT_010718, RefSeq Protein:NP_597998, RefSeq RNA:NM_133491, UniProtKB:Q96F10 No chr17 7529552 7531194 7626234 7627878 +PA34951 6304 HGNC:10541 ENSG00000182568 SATB homeobox 1 SATB1 Yes No Comparative Toxicogenomics Database:6304, Ensembl:ENSG00000182568, GenAtlas:SATB1, GeneCard:SATB1, HGNC:HGNC:10541, ModBase:Q01826, NCBI Gene:6304, OMIM:602075, RefSeq DNA:NT_022517, RefSeq Protein:NP_001124482, RefSeq Protein:NP_001182399, RefSeq Protein:NP_002962, RefSeq RNA:NM_001131010, RefSeq RNA:NM_001195470, RefSeq RNA:NM_002971, UCSC Genome Browser:NM_002971, UniProtKB:Q01826 No chr3 18389133 18480265 18345388 18445588 +PA128394624 23314 HGNC:21637 ENSG00000119042 SATB homeobox 2 SATB2 FLJ21474, KIAA1034 Yes No Comparative Toxicogenomics Database:23314, Ensembl:ENSG00000119042, GeneCard:SATB2, HGNC:HGNC:21637, ModBase:Q9UPW6, NCBI Gene:23314, OMIM:119540, OMIM:608148, RefSeq DNA:NG_016976, RefSeq DNA:NT_005403, RefSeq Protein:NP_001165980, RefSeq Protein:NP_001165988, RefSeq Protein:NP_056080, RefSeq RNA:NM_001172509, RefSeq RNA:NM_001172517, RefSeq RNA:NM_015265, UniProtKB:B3KPQ9, UniProtKB:Q59FT3, UniProtKB:Q9UPW6 No chr2 200134223 200335989 199269500 199471266 +PA134969637 340562 HGNC:27992 ENSG00000184788 spermidine/spermine N1-acetyl transferase like 1 SATL1 spermidine/spermine N1-acetyl transferase-like 1 Yes No Ensembl:ENSG00000184788, GeneCard:SATL1, HGNC:HGNC:27992, NCBI Gene:340562, RefSeq DNA:NG_016590, RefSeq DNA:NT_011651, RefSeq Protein:NP_001012998, RefSeq RNA:NM_001012980, UniProtKB:Q86VE3 No chrX 84347292 84363974 85092286 85116229 +PA134875018 60485 HGNC:17795 ENSG00000151748 salvador family WW domain containing protein 1 SAV1 WW domain-containing adaptor 45, salvador homolog 1 (Drosophila) WW45, WWP4, salvador Yes No Comparative Toxicogenomics Database:60485, Ensembl:ENSG00000151748, GeneCard:SAV1, HGNC:HGNC:17795, HumanCyc Gene:HS14387, ModBase:Q9H4B6, NCBI Gene:60485, OMIM:607203, RefSeq DNA:NT_026437, RefSeq Protein:NP_068590, RefSeq RNA:NM_021818, UniProtKB:Q9H4B6 No chr14 51100298 51135071 50633106 50668353 +PA162386652 158297 HGNC:28566 ENSG00000155875 stabilizer of axonemal microtubules 1 SAXO1 family with sequence similarity 154, member A C9orf138, FAM154A, MGC35182 Yes No Ensembl:ENSG00000155875, GeneCard:FAM154A, HGNC:HGNC:28566, HumanCyc Gene:HS14589, NCBI Gene:158297, RefSeq DNA:NT_008413, RefSeq Protein:NP_714918, RefSeq RNA:NM_153707, UniProtKB:A8K880, UniProtKB:Q8IYX7 No chr9 18927891 19033256 18927660 19049354 +PA162386665 283726 HGNC:33727 ENSG00000188659 stabilizer of axonemal microtubules 2 SAXO2 family with sequence similarity 154, member B DKFZp666G057, FAM154B Yes No Ensembl:ENSG00000188659, GeneCard:FAM154B, HGNC:HGNC:33727, ModBase:Q658L1, NCBI Gene:283726, RefSeq DNA:NT_010194, RefSeq Protein:NP_001008227, RefSeq RNA:NM_001008226, UniProtKB:Q658L1 No chr15 82555152 82577271 82262811 82284927 +PA166352089 101059948 HGNC:56771 stabilizer of axonemal microtubules 3 SAXO3 Yes No HGNC:HGNC:56771, NCBI Gene:101059948 No 0 0 0 0 +PA144596485 220004 HGNC:28869 ENSG00000162148 stabilizer of axonemal microtubules 4 SAXO4 """protein phosphatase 1 regulatory subunit 32"", ""protein phosphatase 1, regulatory subunit 32""" C11orf66, FLJ32771, IIIG9, PPP1R32 Yes No Ensembl:ENSG00000162148, GeneCard:C11orf66, HGNC:HGNC:28869, HumanCyc Gene:HS14900, NCBI Gene:220004, RefSeq DNA:NT_167190, RefSeq Protein:NP_001164224, RefSeq Protein:NP_659454, RefSeq RNA:NM_001170753, RefSeq RNA:NM_145017, UniProtKB:Q7Z5V6 No chr11 61248585 61258400 61481113 61490928 +PA145149520 374877 HGNC:24745 ENSG00000198723 stabilizer of axonemal microtubules 5 SAXO5 chromosome 19 open reading frame 45, testis expressed 45 C19orf45, FLJ35784, TEX45 Yes No Ensembl:ENSG00000198723, GeneCard:C19orf45, HGNC:HGNC:24745, NCBI Gene:374877, RefSeq DNA:NT_077812, RefSeq Protein:NP_940936, RefSeq RNA:NM_198534, UniProtKB:Q8NA69 No chr19 7562445 7573336 7497559 7508457 +PA128394689 55776 HGNC:21025 ENSG00000112167 SAYSVFN motif domain containing 1 SAYSD1 C6orf64, FLJ11101 Yes No Ensembl:ENSG00000112167, GeneCard:C6orf64, HGNC:HGNC:21025, HumanCyc Gene:HS12765, NCBI Gene:55776, RefSeq DNA:NT_007592, RefSeq Protein:NP_060792, RefSeq RNA:NM_018322, UCSC Genome Browser:NM_018322, UniProtKB:Q9NPB0 No chr6 39071840 39082865 39104063 39115186 +PA134978742 51119 HGNC:19440 ENSG00000126524 SBDS ribosome maturation factor SBDS """SBDS, ribosome maturation factor"", ""Shwachman-Bodian-Diamond syndrome""" CGI-97, FLJ10917, SDO1, SDS, SWDS Yes No Comparative Toxicogenomics Database:51119, Ensembl:ENSG00000126524, GeneCard:SBDS, HGNC:HGNC:19440, HumanCyc Gene:HS05026, ModBase:Q9Y3A5, NCBI Gene:51119, OMIM:260400, OMIM:607444, RefSeq DNA:NG_007277, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_057122, RefSeq RNA:NM_016038, UniProtKB:Q9Y3A5 No chr7 66452690 66460588 66987703 66995601 +PA134953248 155370 HGNC:21646 ENSG00000225648 Shwachman-Bodian-Diamond syndrome pseudogene 1 SBDSP1 Yes No Ensembl:ENSG00000225648, HGNC:HGNC:21646, NCBI Gene:155370, RefSeq DNA:NT_007758, RefSeq DNA:NT_079593, RefSeq RNA:NR_001588, RefSeq RNA:NR_024109, RefSeq RNA:NR_024110, RefSeq RNA:NR_024111 No chr7 72299952 72307978 72829373 72837399 +PA34953 6305 HGNC:10542 ENSG00000100241 SET binding factor 1 SBF1 DENN/MADD domain containing 7A, myotubularin related 5 DENND7A, MTMR5 Yes No Comparative Toxicogenomics Database:6305, Ensembl:ENSG00000100241, GenAtlas:SBF1, GeneCard:SBF1, HGNC:HGNC:10542, HumanCyc Gene:HS02013, ModBase:O95248, NCBI Gene:6305, OMIM:603560, RefSeq DNA:NT_011526, RefSeq Protein:NP_002963, RefSeq RNA:NM_002972, UniProtKB:O95248 No chr22 50883429 50913467 50445000 50475071 +PA142670951 100133234 HGNC:31098 ENSG00000248522 SET binding factor 1 pseudogene 1 SBF1P1 Yes No Ensembl:ENSG00000248522, GeneCard:SBF1P1, HGNC:HGNC:31098, NCBI Gene:100133234, RefSeq DNA:NT_008183, RefSeq RNA:NR_027765, RefSeq RNA:XR_037999, RefSeq RNA:XR_038005, RefSeq RNA:XR_038021 No chr8 56361757 56367881 55449197 55455321 +PA26649 81846 HGNC:2135 ENSG00000133812 SET binding factor 2 SBF2 myotubularin related 13 CMT4B2, DENND7B, KIAA1766, MTMR13 Yes No Comparative Toxicogenomics Database:81846, Ensembl:ENSG00000133812, GenAtlas:SBF2, GeneCard:SBF2, HGNC:HGNC:2135, ModBase:Q96FE2, NCBI Gene:81846, OMIM:604563, OMIM:607697, RefSeq DNA:NG_008074, RefSeq DNA:NT_009237, RefSeq Protein:NP_112224, RefSeq RNA:NM_030962, UCSC Genome Browser:NM_030962, UniProtKB:Q86WG5 No chr11 9800214 10315754 9778667 10294216 +PA134887617 388228 HGNC:17699 ENSG00000188322 SH3 domain binding kinase 1 SBK1 SH3-binding domain kinase 1 Sbk Yes No Comparative Toxicogenomics Database:388228, Ensembl:ENSG00000188322, GeneCard:SBK1, HGNC:HGNC:17699, ModBase:Q52WX2, NCBI Gene:388228, RefSeq DNA:NT_010393, RefSeq Protein:NP_001019572, RefSeq RNA:NM_001024401, UniProtKB:Q52WX2 No chr16 28270041 28335170 28258687 28323849 +PA164725571 646643 HGNC:34416 ENSG00000187550 SH3 domain binding kinase family member 2 SBK2 """SH3 domain binding kinase family, member 2"", ""SH3-binding domain kinase family, member 2""" SGK069 Yes No Ensembl:ENSG00000187550, GeneCard:SBK2, HGNC:HGNC:34416, NCBI Gene:646643, RefSeq DNA:NT_011109, RefSeq Protein:NP_001094871, RefSeq RNA:NM_001101401 No chr19 56040780 56048435 55529336 55537175 +PA166123733 100130827 HGNC:44121 ENSG00000231274 SH3 domain binding kinase family member 3 SBK3 SH3 domain binding kinase family, member 3 SgK110 Yes No Ensembl:ENSG00000231274, HGNC:HGNC:44121, NCBI Gene:100130827 No +PA134967986 55206 HGNC:22973 ENSG00000139697 strawberry notch homolog 1 SBNO1 strawberry notch homolog 1 (Drosophila) FLJ10701, FLJ10833, MOP3, Sno Yes No Comparative Toxicogenomics Database:55206, Ensembl:ENSG00000139697, GeneCard:SBNO1, HGNC:HGNC:22973, HumanCyc Gene:HS06651, NCBI Gene:55206, RefSeq DNA:NT_009755, RefSeq Protein:NP_001161328, RefSeq Protein:NP_060653, RefSeq RNA:NM_001167856, RefSeq RNA:NM_018183, UniProtKB:A3KN83 No chr12 123773656 123849756 123289109 123365204 +PA162402390 22904 HGNC:29158 ENSG00000064932 strawberry notch homolog 2 SBNO2 strawberry notch homolog 2 (Drosophila) FLJ00173, KIAA0963, Sno, Stno Yes No Ensembl:ENSG00000064932, GeneCard:SBNO2, HGNC:HGNC:29158, HumanCyc Gene:HS12167, ModBase:Q9Y2G9, NCBI Gene:22904, RefSeq DNA:NT_011255, RefSeq Protein:NP_001093592, RefSeq Protein:NP_055778, RefSeq RNA:NM_001100122, RefSeq RNA:NM_014963, UniProtKB:B3KWJ1, UniProtKB:Q9Y2G9 No chr19 1107633 1174282 1107634 1174283 +PA144596385 374897 HGNC:24950 ENSG00000189001 suprabasin SBSN HLAR698, UNQ698 Yes No Comparative Toxicogenomics Database:374897, Ensembl:ENSG00000189001, GeneCard:SBSN, HGNC:HGNC:24950, ModBase:Q6UWP8, NCBI Gene:374897, OMIM:609969, RefSeq DNA:NT_011109, RefSeq Protein:NP_001159506, RefSeq Protein:NP_001159507, RefSeq Protein:NP_940940, RefSeq RNA:NM_001166034, RefSeq RNA:NM_001166035, RefSeq RNA:NM_198538, UniProtKB:Q6UWP8 No chr19 36014269 36019253 35523367 35528371 +PA164717487 157869 HGNC:30362 ENSG00000164764 somatomedin B and thrombospondin type 1 domain containing SBSPON """RPE spondin"", ""rpe-spondin"", ""somatomedin B and thrombospondin, type 1 domain containing""" C8orf84, RPESP Yes No Ensembl:ENSG00000164764, GeneCard:C8orf84, HGNC:HGNC:30362, HumanCyc Gene:HS15239, NCBI Gene:157869, RefSeq DNA:NT_008183, RefSeq Protein:NP_694957, RefSeq RNA:NM_153225, UniProtKB:Q8IVN8 No chr8 73976778 74005507 73063077 73093272 +PA34956 6308 HGNC:10546 ENSG00000224339 sterol-C4-methyl oxidase pseudogene SC4MOP DESP4P1 Yes No Ensembl:ENSG00000224339, GenAtlas:SC4MOP, GeneCard:SC4MOP, HGNC:HGNC:10546, NCBI Gene:6308, RefSeq DNA:NG_001194, RefSeq DNA:NT_079573 No chrX 37805137 37806018 37945884 37946765 +PA34957 6309 HGNC:10547 ENSG00000109929 sterol-C5-desaturase SC5D delta(7)-sterol 5(6)-desaturase, lathosterol oxidase SC5DL Yes No Comparative Toxicogenomics Database:6309, Ensembl:ENSG00000109929, GenAtlas:SC5DL, GeneCard:SC5DL, HGNC:HGNC:10547, HumanCyc Gene:HS03271, NCBI Gene:6309, OMIM:602286, OMIM:607330, RefSeq DNA:NG_009446, RefSeq DNA:NT_033899, RefSeq Protein:NP_001020127, RefSeq Protein:NP_008849, RefSeq RNA:NM_001024956, RefSeq RNA:NM_006918, UCSC Genome Browser:NM_006918, UniProtKB:O75845, UniProtKB:Q6GTM5 No chr11 121163388 121184119 121292679 121313410 +PA162402459 58506 HGNC:30403 ENSG00000126461 SR-related CTD associated factor 1 SCAF1 SR-related CTD-associated factor 1 FLJ00034, SR-A1 Yes No Ensembl:ENSG00000126461, GeneCard:SCAF1, HGNC:HGNC:30403, ModBase:Q9H7N4, NCBI Gene:58506, RefSeq DNA:NT_011109, RefSeq Protein:NP_067051, RefSeq RNA:NM_021228, UniProtKB:Q9H7N4 No chr19 50145382 50161906 49640483 49658649 +PA35700 9169 HGNC:10784 ENSG00000139218 SR-related CTD associated factor 11 SCAF11 SR-related CTD-associated factor 11 CASP11, SFRS2IP, SIP1, SRRP129, SRSF2IP Yes No Comparative Toxicogenomics Database:9169, Ensembl:ENSG00000139218, GenAtlas:SFRS2IP, GeneCard:SFRS2IP, GeneCard:SRSF2IP, HGNC:HGNC:10784, HumanCyc Gene:HS06597, ModBase:Q99590, NCBI Gene:9169, OMIM:603668, RefSeq DNA:NT_029419, RefSeq Protein:NP_004710, RefSeq RNA:NM_004719, UCSC Genome Browser:NM_004719, UniProtKB:Q99590 No chr12 46312914 46385898 45919131 45992040 +PA134903281 57466 HGNC:19304 ENSG00000156304 SR-related CTD associated factor 4 SCAF4 SR-related CTD-associated factor 4 DKFZp434E098, KIAA1172, SFRS15, SRA4 Yes No Comparative Toxicogenomics Database:57466, Ensembl:ENSG00000156304, GeneCard:SFRS15, HGNC:HGNC:19304, ModBase:O95104, NCBI Gene:57466, RefSeq DNA:NT_011512, RefSeq Protein:NP_001138916, RefSeq Protein:NP_001138917, RefSeq Protein:NP_065757, RefSeq RNA:NM_001145444, RefSeq RNA:NM_001145445, RefSeq RNA:NM_020706, UniProtKB:O95104 No chr21 33043313 33104431 31671000 31732118 +PA128394587 22828 HGNC:20959 ENSG00000213079 SR-related CTD associated factor 8 SCAF8 SR-related CTD-associated factor 8 KIAA1116, RBM16 Yes No Comparative Toxicogenomics Database:22828, Ensembl:ENSG00000213079, GeneCard:RBM16, HGNC:HGNC:20959, ModBase:Q9UPN6, NCBI Gene:22828, RefSeq DNA:NT_025741, RefSeq Protein:NP_055707, RefSeq RNA:NM_014892, UCSC Genome Browser:NM_014892, UniProtKB:Q05BU5, UniProtKB:Q8NDE9, UniProtKB:Q9UPN6 No chr6 155054512 155282708 154733378 154834244 +PA165586233 286205 HGNC:26709 ENSG00000173611 suppressor of cancer cell invasion SCAI C9orf126, FLJ36664, NET40 Yes No Ensembl:ENSG00000173611, GeneCard:SCAI, HGNC:HGNC:26709, HumanCyc Gene:HS16234, NCBI Gene:286205, RefSeq DNA:NG_016620, RefSeq DNA:NT_008470, RefSeq Protein:NP_001138349, RefSeq Protein:NP_775961, RefSeq RNA:NM_001144877, RefSeq RNA:NM_173690, UniProtKB:Q8N9R8 No chr9 127704887 127905838 124942608 125143559 +PA34976 9522 HGNC:10563 ENSG00000085365 secretory carrier membrane protein 1 SCAMP1 SCAMP37 Yes No Comparative Toxicogenomics Database:9522, Ensembl:ENSG00000085365, GenAtlas:SCAMP1, GeneCard:SCAMP1, HGNC:HGNC:10563, HumanCyc Gene:HS01491, NCBI Gene:9522, OMIM:606911, RefSeq DNA:NT_006713, RefSeq Protein:NP_004857, RefSeq RNA:NM_004866, UCSC Genome Browser:NM_004866, UniProtKB:O15126 No chr5 77656339 77776562 78360503 78480739 +PA34977 10066 HGNC:10564 ENSG00000140497 secretory carrier membrane protein 2 SCAMP2 Yes No Ensembl:ENSG00000140497, GenAtlas:SCAMP2, GeneCard:SCAMP2, HGNC:HGNC:10564, HumanCyc Gene:HS06727, ModBase:O15127, NCBI Gene:10066, OMIM:606912, RefSeq DNA:NT_010194, RefSeq Protein:NP_005688, RefSeq RNA:NM_005697, UCSC Genome Browser:NM_005697, UniProtKB:O15127 No chr15 75137197 75165670 74843730 74873379 +PA34978 10067 HGNC:10565 ENSG00000116521 secretory carrier membrane protein 3 SCAMP3 Propin 1 C1orf3 Yes No Ensembl:ENSG00000116521, GenAtlas:SCAMP3, GeneCard:SCAMP3, HGNC:HGNC:10565, HumanCyc Gene:HS04017, ModBase:O14828, NCBI Gene:10067, OMIM:606913, RefSeq DNA:NT_004487, RefSeq Protein:NP_005689, RefSeq Protein:NP_443069, RefSeq RNA:NM_005698, RefSeq RNA:NM_052837, UCSC Genome Browser:NM_005698, UniProtKB:O14828 No chr1 155225770 155232176 155255979 155262703 +PA134983341 113178 HGNC:30385 ENSG00000227500 secretory carrier membrane protein 4 SCAMP4 FLJ33847 Yes No Comparative Toxicogenomics Database:113178, Ensembl:ENSG00000227500, GeneCard:SCAMP4, HGNC:HGNC:30385, NCBI Gene:113178, RefSeq DNA:NT_011255, RefSeq Protein:NP_524558, RefSeq RNA:NM_079834, UniProtKB:Q969E2 No chr19 1905213 1926012 1905374 1926013 +PA134962580 192683 HGNC:30386 ENSG00000198794 secretory carrier membrane protein 5 SCAMP5 MGC24969 Yes No Comparative Toxicogenomics Database:192683, Ensembl:ENSG00000198794, GeneCard:SCAMP5, HGNC:HGNC:30386, NCBI Gene:192683, RefSeq DNA:NT_010194, RefSeq Protein:NP_001171582, RefSeq Protein:NP_001171583, RefSeq Protein:NP_620417, RefSeq RNA:NM_001178111, RefSeq RNA:NM_001178112, RefSeq RNA:NM_138967, RefSeq RNA:NR_033660, UniProtKB:Q8TAC9 No chr15 75287876 75313836 74995535 75021495 +PA34979 51282 HGNC:10566 ENSG00000171222 SCAN domain containing 1 SCAND1 RAZ1, SDP1 Yes No Comparative Toxicogenomics Database:51282, Ensembl:ENSG00000171222, GenAtlas:SCAND1, GeneCard:SCAND1, HGNC:HGNC:10566, HumanCyc Gene:HS10269, ModBase:P57086, NCBI Gene:51282, OMIM:610416, RefSeq DNA:NT_011362, RefSeq Protein:NP_057642, RefSeq Protein:NP_361012, RefSeq RNA:NM_016558, RefSeq RNA:NM_033630, UCSC Genome Browser:NM_016558, UniProtKB:P57086, UniProtKB:Q9NZG6 No chr20 34541539 34543281 35953617 35955359 +PA34980 54581 HGNC:10567 ENSG00000176700 SCAN domain containing 2 pseudogene SCAND2P Yes No Comparative Toxicogenomics Database:54581, Ensembl:ENSG00000176700, GenAtlas:SCAND2, GeneCard:SCAND2, HGNC:HGNC:10567, HumanCyc Gene:HS11072, HumanCyc Gene:HS11301, ModBase:Q9GZW5, NCBI Gene:54581, OMIM:610417, RefSeq DNA:NT_010274, RefSeq RNA:NR_003654, RefSeq RNA:NR_004859, UCSC Genome Browser:NM_022050 No chr15 85174691 85185694 84631460 84642463 +PA162402460 114821 HGNC:13851 ENSG00000197202, ENSG00000232040 SCAN domain containing 3 SCAND3 """SCAN domain containing 3"", ""zinc finger BED-type containing 9"", ""zinc finger, BED-type containing 9""" Buster4, FAM200D, FLJ31087, KIAA1925, SCAND3, ZBED9, ZFP38-L, ZNF305P2, ZNF452 Yes No Ensembl:ENSG00000197202, Ensembl:ENSG00000232040, GeneCard:SCAND3, HGNC:HGNC:13851, NCBI Gene:114821, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq Protein:NP_443155, RefSeq RNA:NM_052923, UniProtKB:Q6R2W3 No chr6 28539407 28555112 28568288 28616203 +PA162402461 22937 HGNC:30634 ENSG00000114650 SREBF chaperone SCAP SREBP cleavage activating protein KIAA0199 Yes Yes Ensembl:ENSG00000114650, GeneCard:SCAP, HGNC:HGNC:30634, HumanCyc Gene:HS03786, ModBase:Q12770, NCBI Gene:22937, OMIM:601510, RefSeq DNA:NT_022517, RefSeq Protein:NP_036367, RefSeq RNA:NM_012235, UniProtKB:Q12770 No chr3 47455184 47517603 47413685 47477126 +PA162402512 49855 HGNC:13081 ENSG00000140386 S-phase cyclin A associated protein in the ER SCAPER S-phase cyclin A-associated protein in the ER ZNF291, Zfp291 Yes No Ensembl:ENSG00000140386, GeneCard:SCAPER, HGNC:HGNC:13081, HumanCyc Gene:HS13828, ModBase:Q9BY12, NCBI Gene:49855, OMIM:611611, RefSeq DNA:NT_010194, RefSeq Protein:NP_001139395, RefSeq Protein:NP_065894, RefSeq RNA:NM_001145923, RefSeq RNA:NM_020843, UniProtKB:Q6NSF1, UniProtKB:Q9BY12 No chr15 76640526 77197796 76348185 76905455 +PA38775 51435 HGNC:19000 ENSG00000168077 scavenger receptor class A member 3 SCARA3 """macrophage scavenger receptor-like 1"", ""scavenger receptor class A, member 3""" APC7, CSR, CSR1, MSLR1, MSRL1 Yes No Comparative Toxicogenomics Database:51435, Ensembl:ENSG00000168077, GenAtlas:SCARA3, GeneCard:SCARA3, HGNC:HGNC:19000, HumanCyc Gene:HS09690, ModBase:Q6AZY7, NCBI Gene:51435, OMIM:602728, RefSeq DNA:NT_167187, RefSeq Protein:NP_057324, RefSeq Protein:NP_878185, RefSeq RNA:NM_016240, RefSeq RNA:NM_182826, UCSC Genome Browser:NM_016240, UniProtKB:Q6AZY7 No chr8 27491100 27534286 27633665 27734027 +PA142670948 286133 HGNC:28701 ENSG00000168079 scavenger receptor class A member 5 SCARA5 """scavenger receptor class A, member 5"", ""scavenger receptor class A, member 5 (putative)""" FLJ23907, MGC45780, NET33 Yes No Comparative Toxicogenomics Database:286133, Ensembl:ENSG00000168079, GeneCard:SCARA5, HGNC:HGNC:28701, ModBase:Q6ZMJ2, NCBI Gene:286133, OMIM:611306, RefSeq DNA:NT_167187, RefSeq Protein:NP_776194, RefSeq RNA:NM_173833, UniProtKB:Q6ZMJ2 No chr8 27727399 27850369 27869882 27992852 +PA97 949 HGNC:1664 ENSG00000073060 scavenger receptor class B member 1 SCARB1 scavenger receptor class B, member 1 CD36L1, CLA-1, CLA1, SR-BI, SRB1 Yes Yes Comparative Toxicogenomics Database:949, Ensembl:ENSG00000073060, GeneCard:SCARB1, HGNC:HGNC:1664, HumanCyc Gene:HS01093, NCBI Gene:949, OMIM:601040, RefSeq DNA:NT_009755, RefSeq Protein:NP_001076428, RefSeq Protein:NP_005496, RefSeq RNA:NM_001082959, RefSeq RNA:NM_005505, UCSC Genome Browser:NM_005505, UniProtKB:Q8WTV0 No chr12 125262174 125348519 124777628 124863973 +PA35038 950 HGNC:1665 ENSG00000138760 scavenger receptor class B member 2 SCARB2 """lysosomal integral membrane protein II"", ""lysosome membrane protein 2"", ""scavenger receptor class B, member 2""" CD36L2, HLGP85, LIMP-2, LIMPII, SR-BII Yes No Comparative Toxicogenomics Database:950, Ensembl:ENSG00000138760, GenAtlas:SCARB2, GeneCard:SCARB2, HGNC:HGNC:1665, HumanCyc Gene:HS06550, ModBase:Q14108, NCBI Gene:950, OMIM:254900, OMIM:602257, RefSeq DNA:NG_012054, RefSeq DNA:NT_016354, RefSeq Protein:NP_001191184, RefSeq Protein:NP_005497, RefSeq RNA:NM_001204255, RefSeq RNA:NM_005506, UCSC Genome Browser:NM_005506, UniProtKB:Q14108, UniProtKB:Q53Y63 No chr4 77079890 77135052 76158737 76213899 +PA38420 8578 HGNC:16820 ENSG00000074660 scavenger receptor class F member 1 SCARF1 """acetyl LDL receptor"", ""scavenger receptor class F, member 1"", ""scavenger receptor expressed by endothelial cells""" KIAA0149, SREC, SREC1 Yes No Ensembl:ENSG00000074660, GenAtlas:SCARF1, GeneCard:SCARF1, HGNC:HGNC:16820, HumanCyc Gene:HS01146, ModBase:Q14162, NCBI Gene:8578, OMIM:607873, RefSeq DNA:NT_010718, RefSeq Protein:NP_003684, RefSeq Protein:NP_663324, RefSeq Protein:NP_663325, RefSeq Protein:NP_663326, RefSeq Protein:NP_663327, RefSeq RNA:NM_003693, RefSeq RNA:NM_145349, RefSeq RNA:NM_145350, RefSeq RNA:NM_145351, RefSeq RNA:NM_145352, RefSeq RNA:NR_028075, RefSeq RNA:NR_028076, UCSC Genome Browser:NM_003693, UniProtKB:A8MQ05, UniProtKB:Q14162, UniProtKB:Q8NHD4 No chr17 1537152 1549083 1633858 1645789 +PA134908523 91179 HGNC:19869 ENSG00000244486 scavenger receptor class F member 2 SCARF2 scavenger receptor class F, member 2 HUMZD58C02, SREC-II, SREC2 Yes No Ensembl:ENSG00000244486, GeneCard:SCARF2, HGNC:HGNC:19869, HumanCyc Gene:HS01929, ModBase:Q96GP6, NCBI Gene:91179, RefSeq DNA:NT_011520, RefSeq Protein:NP_699165, RefSeq Protein:NP_878315, RefSeq RNA:NM_153334, RefSeq RNA:NM_182895, UniProtKB:Q96GP6 No chr22 20778874 20792146 20424584 20437859 +PA144596383 677774 HGNC:32555 ENSG00000252947 small Cajal body-specific RNA 1 SCARNA1 ACA35 Yes No Ensembl:ENSG00000252947, GeneCard:SCARNA1, HGNC:HGNC:32555, NCBI Gene:677774, RefSeq DNA:NT_004610, RefSeq RNA:NR_002997 No chr1 28160912 28161077 27834401 27834566 +PA144596370 692148 HGNC:32567 ENSG00000239002 small Cajal body-specific RNA 10 SCARNA10 U85 Yes No Ensembl:ENSG00000239002, GeneCard:SCARNA10, HGNC:HGNC:32567, NCBI Gene:692148, RefSeq DNA:NT_009759, RefSeq RNA:NR_004387 No chr12 6619388 6619717 6510222 6510551 +PA144596371 677780 HGNC:32568 ENSG00000251898 small Cajal body-specific RNA 11 SCARNA11 ACA57 Yes No Ensembl:ENSG00000251898, GeneCard:SCARNA11, HGNC:HGNC:32568, NCBI Gene:677780, RefSeq DNA:NT_009759, RefSeq RNA:NR_003012 No chr12 6690639 6690775 6581473 6581609 +PA144596372 677777 HGNC:32569 ENSG00000238795 small Cajal body-specific RNA 12 SCARNA12 U89 Yes No Ensembl:ENSG00000238795, GeneCard:SCARNA12, HGNC:HGNC:32569, NCBI Gene:677777, RefSeq DNA:NT_009759, RefSeq RNA:NR_003010 No chr12 7076500 7076769 6967337 6967606 +PA144596373 677768 HGNC:32570 ENSG00000252481 small Cajal body-specific RNA 13 SCARNA13 U93 Yes No Ensembl:ENSG00000252481, GeneCard:SCARNA13, HGNC:HGNC:32570, NCBI Gene:677768, RefSeq DNA:NT_026437, RefSeq RNA:NR_003002 No chr14 95999692 95999966 95533355 95533629 +PA144596374 692149 HGNC:32571 ENSG00000252712 small Cajal body-specific RNA 14 SCARNA14 U100 Yes No Ensembl:ENSG00000252712, GeneCard:SCARNA14, HGNC:HGNC:32571, NCBI Gene:692149, RefSeq DNA:NT_010194, RefSeq RNA:NR_004388 No chr15 66639544 66639680 66347206 66347342 +PA144596375 677778 HGNC:32572 ENSG00000277864 small Cajal body-specific RNA 15 SCARNA15 ACA45 Yes No Ensembl:ENSG00000277864, GeneCard:SCARNA15, HGNC:HGNC:32572, NCBI Gene:677778, OMIM:612675, RefSeq DNA:NT_077661, RefSeq RNA:NR_003011 No chr15 83424697 83424823 82755945 82756071 +PA144596376 677781 HGNC:32573 ENSG00000275143 small Cajal body-specific RNA 16 SCARNA16 ACA47 Yes No Ensembl:ENSG00000275143, GeneCard:SCARNA16, HGNC:HGNC:32573, NCBI Gene:677781, RefSeq DNA:NT_010783, RefSeq RNA:NR_003013 No chr17 75085389 75085575 77089307 77089493 +PA144596377 677769 HGNC:32574 ENSG00000251992 small Cajal body-specific RNA 17 SCARNA17 U91, mgU12-22/U4-8 Yes No Ensembl:ENSG00000251992, GeneCard:SCARNA17, HGNC:HGNC:32574, NCBI Gene:677769, RefSeq DNA:NT_010966, RefSeq RNA:NR_003003 No chr18 47340393 47340813 49814023 49814443 +PA144596378 677765 HGNC:32559 ENSG00000238835 small Cajal body-specific RNA 18 SCARNA18 U109 Yes No Ensembl:ENSG00000238835, GeneCard:SCARNA18, HGNC:HGNC:32559, NCBI Gene:677765, OMIM:611329, RefSeq DNA:NT_006713, RefSeq RNA:NR_003139 No chr5 82360023 82360156 83064204 83064337 +PA144596384 677766 HGNC:32558 ENSG00000278249 small Cajal body-specific RNA 2 SCARNA2 HBII-382, mgU2-25/61 Yes No Ensembl:ENSG00000278249, GeneCard:SCARNA2, HGNC:HGNC:32558, NCBI Gene:677766, RefSeq DNA:NT_032977, RefSeq RNA:NR_003023 No chr1 109642815 109643234 109100193 109100612 +PA144596379 677681 HGNC:32578 ENSG00000252577 small Cajal body-specific RNA 20 SCARNA20 ACA66 Yes No Ensembl:ENSG00000252577, GeneCard:SCARNA20, HGNC:HGNC:32578, NCBI Gene:677681, RefSeq DNA:NT_010783, RefSeq RNA:NR_002999 No chr17 58308877 58309006 60231516 60231645 +PA144596380 677763 HGNC:32579 ENSG00000252835 small Cajal body-specific RNA 21 SCARNA21 ACA68 Yes No Ensembl:ENSG00000252835, GeneCard:SCARNA21, HGNC:HGNC:32579, NCBI Gene:677763, RefSeq DNA:NT_010718, RefSeq RNA:NR_003000 No chr17 7809441 7809578 7906123 7906260 +PA144596381 677770 HGNC:32580 ENSG00000249784 small Cajal body-specific RNA 22 SCARNA22 ACA11 Yes No Ensembl:ENSG00000249784, GeneCard:SCARNA22, HGNC:HGNC:32580, NCBI Gene:677770, RefSeq DNA:NT_006051, RefSeq RNA:NR_003004 No chr4 1976363 1976487 1974636 1974760 +PA144596382 677773 HGNC:32581 ENSG00000251869 small Cajal body-specific RNA 23 SCARNA23 ACA12 Yes No Ensembl:ENSG00000251869, GeneCard:SCARNA23, HGNC:HGNC:32581, NCBI Gene:677773, RefSeq DNA:NT_167197, RefSeq RNA:NR_003007 No chrX 24762558 24762687 24744441 24744570 +PA162402513 100124533 HGNC:33614 small Cajal body-specific RNA 27 SCARNA27 Yes No GeneCard:SCARNA27, HGNC:HGNC:33614, NCBI Gene:100124533, RefSeq DNA:NT_007592, RefSeq RNA:NR_003703 No chr6 8086641 8086766 8086408 8086533 +PA144596363 677679 HGNC:32577 ENSG00000252906 small Cajal body-specific RNA 3 SCARNA3 HBI-100 Yes No Ensembl:ENSG00000252906, GeneCard:SCARNA3, HGNC:HGNC:32577, NCBI Gene:677679, RefSeq DNA:NT_004487, RefSeq RNA:NR_002998 No chr1 175937533 175937676 175968397 175968540 +PA144596364 677771 HGNC:32560 ENSG00000280466 small Cajal body-specific RNA 4 SCARNA4 ACA26 Yes No Ensembl:ENSG00000280466, GeneCard:SCARNA4, HGNC:HGNC:32560, NCBI Gene:677771, RefSeq DNA:NT_004487, RefSeq RNA:NR_003005 No chr1 155895749 155895877 155925958 155926086 +PA144596365 677775 HGNC:32561 ENSG00000252010 small Cajal body-specific RNA 5 SCARNA5 U87 Yes No Ensembl:ENSG00000252010, GeneCard:SCARNA5, HGNC:HGNC:32561, NCBI Gene:677775, RefSeq DNA:NT_005120, RefSeq RNA:NR_003008 No chr2 234184372 234184649 233275726 233276003 +PA144596366 677772 HGNC:32562 ENSG00000251791 small Cajal body-specific RNA 6 SCARNA6 U88 Yes No Ensembl:ENSG00000251791, GeneCard:SCARNA6, HGNC:HGNC:32562, NCBI Gene:677772, RefSeq DNA:NT_005120, RefSeq RNA:NR_003006 No chr2 234197322 234197587 233288676 233288941 +PA144596367 677767 HGNC:32563 ENSG00000238741 small Cajal body-specific RNA 7 SCARNA7 U90 Yes No Ensembl:ENSG00000238741, GeneCard:SCARNA7, HGNC:HGNC:32563, NCBI Gene:677767, RefSeq DNA:NT_005612, RefSeq RNA:NR_003001 No chr3 160232695 160233024 160514907 160515236 +PA144596368 677776 HGNC:32564 ENSG00000251733 small Cajal body-specific RNA 8 SCARNA8 U92 Yes No Ensembl:ENSG00000251733, GeneCard:SCARNA8, HGNC:HGNC:32564, NCBI Gene:677776, RefSeq DNA:NT_008413, RefSeq RNA:NR_003009 No chr9 19063654 19063784 19063656 19063786 +PA144596369 619383 HGNC:32566 ENSG00000254911 small Cajal body-specific RNA 9 SCARNA9 Z32, mgU2-19/30 Yes No Ensembl:ENSG00000254911, GeneCard:SCARNA9, HGNC:HGNC:32566, NCBI Gene:619383, RefSeq DNA:NT_167190, RefSeq RNA:NR_002569 No chr11 93454680 93455032 93721514 93721866 +PA162402514 100158262 HGNC:33559 small Cajal body-specific RNA 9-like SCARNA9L Yes No GeneCard:SCARNA9L, HGNC:HGNC:33559, NCBI Gene:100158262, RefSeq DNA:NT_167197, RefSeq RNA:NR_023358 No chrX 20154184 20154531 20136066 20136413 +PA166352090 619207 HGNC:32411 scavenger receptor family member expressed on T cells 1 SCART1 CD163c-alpha Yes No HGNC:HGNC:32411, NCBI Gene:619207 No 0 0 0 0 +PA142670949 51097 HGNC:24275 ENSG00000143653 saccharopine dehydrogenase (putative) SCCPDH CGI-49, NET11 Yes No Comparative Toxicogenomics Database:51097, Ensembl:ENSG00000143653, GeneCard:SCCPDH, HGNC:HGNC:24275, HumanCyc Gene:HS13980, ModBase:Q8NBX0, NCBI Gene:51097, RefSeq DNA:NT_167186, RefSeq Protein:NP_057086, RefSeq RNA:NM_016002, UniProtKB:Q8NBX0 No chr1 246887378 246931439 246724076 246768137 +PA34984 6319 HGNC:10571 ENSG00000099194 stearoyl-CoA desaturase SCD acyl-CoA desaturase, delta-9-desaturase, fatty acid desaturase, stearoyl-CoA desaturase (delta-9-desaturase) FADS5, SCD1, SCDOS Yes No Comparative Toxicogenomics Database:6319, Ensembl:ENSG00000099194, GenAtlas:SCD, GeneCard:SCD, HGNC:HGNC:10571, HumanCyc Gene:HS01878, ModBase:Q9BS07, NCBI Gene:6319, OMIM:604031, RefSeq DNA:NT_030059, RefSeq Protein:NP_005054, RefSeq RNA:NM_005063, UCSC Genome Browser:NM_005063, UniProtKB:O00767 No chr10 102106772 102124588 100347015 100364831 +PA134934692 79966 HGNC:21088 ENSG00000145284 stearoyl-CoA desaturase 5 SCD5 ACOD4, FADS4, FLJ21032, HSCD5, SCD4 Yes No Ensembl:ENSG00000145284, GeneCard:SCD5, HGNC:HGNC:21088, HumanCyc Gene:HS07241, NCBI Gene:79966, OMIM:608370, RefSeq DNA:NT_016354, RefSeq Protein:NP_001032671, RefSeq Protein:NP_079182, RefSeq RNA:NM_001037582, RefSeq RNA:NM_024906, UniProtKB:Q86SK9, UniProtKB:Q86UC8 No chr4 83550690 83720010 82629537 82798857 +PA34986 8796 HGNC:10573 ENSG00000136155 sciellin SCEL FLJ21667, MGC22531 Yes No Comparative Toxicogenomics Database:8796, Ensembl:ENSG00000136155, GenAtlas:SCEL, GeneCard:SCEL, HGNC:HGNC:10573, HumanCyc Gene:HS06122, ModBase:O95171, NCBI Gene:8796, OMIM:604112, RefSeq DNA:NT_024524, RefSeq Protein:NP_001154178, RefSeq Protein:NP_003834, RefSeq Protein:NP_659001, RefSeq RNA:NM_001160706, RefSeq RNA:NM_003843, RefSeq RNA:NM_144777, UCSC Genome Browser:NM_003843, UniProtKB:B7Z797, UniProtKB:O95171 No chr13 78109809 78219398 77535674 77645263 +PA134946073 23256 HGNC:20726 ENSG00000092108 sec1 family domain containing 1 SCFD1 C14orf163, KIAA0917, RA410, SLY1, STXBP1L2 Yes No Comparative Toxicogenomics Database:23256, Ensembl:ENSG00000092108, GeneCard:SCFD1, HGNC:HGNC:20726, HumanCyc Gene:HS01759, ModBase:Q8WVM8, NCBI Gene:23256, RefSeq DNA:NT_026437, RefSeq Protein:NP_057190, RefSeq Protein:NP_878255, RefSeq RNA:NM_016106, RefSeq RNA:NM_182835, UniProtKB:B7Z4U7, UniProtKB:Q8WVM8 No chr14 31091460 31205034 30622254 30735828 +PA134953686 152579 HGNC:30676 ENSG00000184178 sec1 family domain containing 2 SCFD2 FLJ39514, STXBP1L1 Yes No Comparative Toxicogenomics Database:152579, Ensembl:ENSG00000184178, GeneCard:SCFD2, HGNC:HGNC:30676, ModBase:Q8WU76, NCBI Gene:152579, RefSeq DNA:NT_022853, RefSeq Protein:NP_689753, RefSeq RNA:NM_152540, UniProtKB:Q8WU76 No chr4 53738797 54232242 52872630 53366111 +PA34987 7857 HGNC:10575 ENSG00000171951 secretogranin II SCG2 chromogranin C, secretoneurin CHGC, SN, SgII Yes No Comparative Toxicogenomics Database:7857, Ensembl:ENSG00000171951, GenAtlas:SCG2, GeneCard:SCG2, HGNC:HGNC:10575, HumanCyc Gene:HS10421, ModBase:P13521, NCBI Gene:7857, OMIM:118930, RefSeq DNA:NT_005403, RefSeq Protein:NP_003460, RefSeq RNA:NM_003469, UCSC Genome Browser:NM_003469, UniProtKB:P13521 No chr2 224461658 224467217 223596940 223602499 +PA34988 29106 HGNC:13707 ENSG00000104112 secretogranin III SCG3 FLJ90833, SGIII Yes No Comparative Toxicogenomics Database:29106, Ensembl:ENSG00000104112, GenAtlas:SCG3, GeneCard:SCG3, HGNC:HGNC:13707, HumanCyc Gene:HS12543, ModBase:Q8WXD2, NCBI Gene:29106, OMIM:611796, RefSeq DNA:NG_013214, RefSeq DNA:NT_010194, RefSeq Protein:NP_001158729, RefSeq Protein:NP_037375, RefSeq RNA:NM_001165257, RefSeq RNA:NM_013243, UCSC Genome Browser:NM_013243, UniProtKB:B4DK99, UniProtKB:Q8WXD2 No chr15 51973550 52013223 51681353 51721026 +PA35724 6447 HGNC:10816 ENSG00000166922 secretogranin V SCG5 prohormone convertase chaperone, secretogranin V (7B2 protein) 7B2, SGNE1, SgV Yes No Comparative Toxicogenomics Database:6447, Ensembl:ENSG00000166922, GenAtlas:SCG5, GeneCard:SCG5, HGNC:HGNC:10816, HumanCyc Gene:HS09480, NCBI Gene:6447, OMIM:173120, RefSeq DNA:NT_010194, RefSeq Protein:NP_001138229, RefSeq Protein:NP_003011, RefSeq RNA:NM_001144757, RefSeq RNA:NM_003020, UCSC Genome Browser:NM_003020, UniProtKB:P05408, UniProtKB:Q6FHD0 No chr15 32933757 32989299 32641669 32697097 +PA34989 7356 HGNC:12523 ENSG00000149021 secretoglobin family 1A member 1 SCGB1A1 """Uteroglobin (Clara cell specific 10-kD protein)"", ""Uteroglobin (Clara-cell specific 10-kD protein)"", ""club cell protein 16"", ""club secretory protein 16"", ""secretoglobin, family 1A, member 1 (uteroglobin)""" CC10, CC16, CCSP, UGB Yes No Comparative Toxicogenomics Database:7356, Ensembl:ENSG00000149021, GenAtlas:SCGB1A1, GeneCard:SCGB1A1, HGNC:HGNC:12523, HumanCyc Gene:HS07578, ModBase:P11684, NCBI Gene:7356, OMIM:192020, OMIM:600807, RefSeq DNA:NG_021331, RefSeq DNA:NT_167190, RefSeq Protein:NP_003348, RefSeq RNA:NM_003357, UCSC Genome Browser:NM_003357, UniProtKB:P11684 No chr11 62186507 62190678 62419035 62423206 +PA134928324 147199 HGNC:18394 ENSG00000188076 secretoglobin family 1C member 1 SCGB1C1 secretoglobin, family 1C, member 1 RYD5 Yes No Comparative Toxicogenomics Database:147199, Ensembl:ENSG00000188076, GeneCard:SCGB1C1, HGNC:HGNC:18394, ModBase:Q8TD33, NCBI Gene:147199, OMIM:610176, RefSeq DNA:NT_009237, RefSeq Protein:NP_663626, RefSeq RNA:NM_145651 No chr11 188101 194575 187881 194575 +PA166123734 653486 HGNC:51242 ENSG00000268320 secretoglobin family 1C member 2 SCGB1C2 secretoglobin, family 1C, member 2 Yes No Ensembl:ENSG00000268320, HGNC:HGNC:51242, NCBI Gene:653486 No +PA34990 10648 HGNC:18395 ENSG00000168515 secretoglobin family 1D member 1 SCGB1D1 """lipophilin A (uteroglobin family member)"", ""prostatein-like lipophilin A"", ""secretoglobin, family 1D, member 1""" LIPA, LPHA, MGC71958 Yes No Comparative Toxicogenomics Database:10648, Ensembl:ENSG00000168515, GenAtlas:SCGB1D1, GeneCard:SCGB1D1, HGNC:HGNC:18395, HumanCyc Gene:HS09778, ModBase:O95968, NCBI Gene:10648, RefSeq DNA:NT_167190, RefSeq Protein:NP_006543, RefSeq RNA:NM_006552, UCSC Genome Browser:NM_006552, UniProtKB:O95968 No chr11 61957710 61961009 62190238 62193537 +PA34991 10647 HGNC:18396 ENSG00000124935 secretoglobin family 1D member 2 SCGB1D2 """lipophilin B (uteroglobin family member), prostatein-like"", ""prostatein-like lipophilin B"", ""secretoglobin, family 1D, member 2""" LIPB, LPHB Yes No Comparative Toxicogenomics Database:10647, Ensembl:ENSG00000124935, GenAtlas:SCGB1D2, GeneCard:SCGB1D2, HGNC:HGNC:18396, HumanCyc Gene:HS04847, ModBase:O95969, NCBI Gene:10647, RefSeq DNA:NT_167190, RefSeq Protein:NP_006542, RefSeq RNA:NM_006551, UCSC Genome Browser:NM_006551, UniProtKB:O95969 No chr11 62009102 62012280 62242252 62244808 +PA142670946 404552 HGNC:31748 ENSG00000197745 secretoglobin family 1D member 4 SCGB1D4 secretoglobin, family 1D, member 4 IIS Yes No Ensembl:ENSG00000197745, GeneCard:SCGB1D4, HGNC:HGNC:31748, ModBase:Q6XE38, NCBI Gene:404552, RefSeq DNA:NT_167190, RefSeq Protein:NP_996881, RefSeq RNA:NM_206998, UniProtKB:Q6XE38 No chr11 62063754 62066536 62296282 62299064 +PA34992 4246 HGNC:7051 ENSG00000124939 secretoglobin family 2A member 1 SCGB2A1 """lacryglobin"", ""lipophilin C"", ""mammaglobin B"", ""secretoglobin, family 2A, member 1""" LPHC, MGB2, MGC71973, UGB3 Yes No Comparative Toxicogenomics Database:4246, Ensembl:ENSG00000124939, GenAtlas:SCGB2A1, GeneCard:SCGB2A1, HGNC:HGNC:7051, HumanCyc Gene:HS04848, ModBase:O75556, NCBI Gene:4246, OMIM:604398, RefSeq DNA:NT_167190, RefSeq Protein:NP_002398, RefSeq RNA:NM_002407, UCSC Genome Browser:NM_002407, UniProtKB:O75556 No chr11 61976140 61981411 62208668 62213939 +PA34993 4250 HGNC:7050 ENSG00000110484 secretoglobin family 2A member 2 SCGB2A2 """mammaglobin A"", ""mammaglobin-A"", ""secretoglobin, family 2A, member 2""" MGB1, MGC71974, PSBP1, UGB2 Yes No Comparative Toxicogenomics Database:4250, Ensembl:ENSG00000110484, GenAtlas:SCGB2A2, GeneCard:SCGB2A2, HGNC:HGNC:7050, HumanCyc Gene:HS03315, ModBase:Q13296, NCBI Gene:4250, OMIM:605562, RefSeq DNA:NT_167190, RefSeq Protein:NP_002402, RefSeq RNA:NM_002411, UCSC Genome Browser:NM_002411, UniProtKB:Q13296 No chr11 62037630 62040628 62270130 62273160 +PA164725574 284402 HGNC:27616 ENSG00000205209 secretoglobin family 2B member 2 SCGB2B2 secretoglobin, family 2B, member 2 SCGB4A2, SCGBL Yes No Ensembl:ENSG00000205209, GeneCard:SCGBL, HGNC:HGNC:27616, NCBI Gene:284402, RefSeq DNA:NT_011109, RefSeq Protein:NP_001020762, RefSeq RNA:NM_001025591, UniProtKB:Q4G0G5 No chr19 35084346 35085490 34590625 34594585 +PA34994 92304 HGNC:18384 ENSG00000161055 secretoglobin family 3A member 1 SCGB3A1 """cytokine high in normal-1"", ""pneumo secretory protein 2"", ""secretoglobin, family 3A, member 1""" HIN-1, HIN1, LU105, PnSP-2, UGRP2 Yes Yes Comparative Toxicogenomics Database:92304, Ensembl:ENSG00000161055, GenAtlas:SCGB3A1, GeneCard:SCGB3A1, HGNC:HGNC:18384, HumanCyc Gene:HS08568, NCBI Gene:92304, OMIM:606500, RefSeq DNA:NT_023133, RefSeq Protein:NP_443095, RefSeq RNA:NM_052863, UCSC Genome Browser:NM_052863, UniProtKB:Q96QR1 No chr5 180017105 180018487 180590105 180591487 +PA34995 117156 HGNC:18391 ENSG00000164265 secretoglobin family 3A member 2 SCGB3A2 """pneumo secretory protein 1"", ""secretoglobin, family 3A, member 2"", ""uteroglobin related protein 1"", ""uteroglobin-related protein 1""" LU103, PNSP1, UGRP1 Yes No Comparative Toxicogenomics Database:117156, Ensembl:ENSG00000164265, GenAtlas:SCGB3A2, GeneCard:SCGB3A2, HGNC:HGNC:18391, HumanCyc Gene:HS15177, NCBI Gene:117156, OMIM:600807, OMIM:606531, RefSeq DNA:NG_016867, RefSeq DNA:NT_029289, RefSeq Protein:NP_473364, RefSeq RNA:NM_054023, UCSC Genome Browser:NM_054023, UniProtKB:Q2L6B3, UniProtKB:Q96PL1 No chr5 147258274 147261756 147878711 147882193 +PA38428 10590 HGNC:16941 ENSG00000079689 secretagogin, EF-hand calcium binding protein SCGN calbindin-like CALBL, DJ501N12.8, SECRET, SEGN Yes No Ensembl:ENSG00000079689, GenAtlas:SCGN, GeneCard:SCGN, HGNC:HGNC:16941, HumanCyc Gene:HS01334, ModBase:O76038, NCBI Gene:10590, OMIM:609202, RefSeq DNA:NT_007592, RefSeq Protein:NP_008929, RefSeq RNA:NM_006998, UCSC Genome Browser:NM_006998, UniProtKB:O76038 No chr6 25652429 25702011 25652201 25701783 +PA34997 29970 HGNC:15678 ENSG00000151967, ENSG00000250588 schwannomin interacting protein 1 SCHIP1 schwannomin interacting protein 1 variant 1, schwannomin interacting protein 1 variant 2 SCHIP-1 Yes No Comparative Toxicogenomics Database:29970, Ensembl:ENSG00000151967, Ensembl:ENSG00000250588, GenAtlas:SCHIP1, GeneCard:SCHIP1, HGNC:HGNC:15678, HumanCyc Gene:HS07785, ModBase:Q9P0W5, NCBI Gene:29970, RefSeq DNA:NT_005612, RefSeq Protein:NP_001184036, RefSeq Protein:NP_001184037, RefSeq Protein:NP_001184038, RefSeq Protein:NP_055390, RefSeq RNA:NM_001197107, RefSeq RNA:NM_001197108, RefSeq RNA:NM_001197109, RefSeq RNA:NM_014575, UCSC Genome Browser:NM_014575, UniProtKB:Q9P0W5 No chr3 158991036 159615155 159273247 159897366 +PA162378517 388325 HGNC:33504 ENSG00000161929 SLP adaptor and CSK interacting membrane protein SCIMP SLP65/SLP76, Csk-interacting membrane protein C17orf87, DTFT5783, FLJ32580, MGC163426, MGC163428, UNQ5783 Yes No Ensembl:ENSG00000161929, GeneCard:C17orf87, HGNC:HGNC:33504, ModBase:Q6UWF3, NCBI Gene:388325, RefSeq DNA:NT_010718, RefSeq Protein:NP_996986, RefSeq RNA:NM_207103, UniProtKB:Q6UWF3 No chr17 5112215 5138997 5208920 5234860 +PA134981389 85477 HGNC:21695 ENSG00000006747 scinderin SCIN KIAA1905, adseverin Yes No Comparative Toxicogenomics Database:85477, Ensembl:ENSG00000006747, GeneCard:SCIN, HGNC:HGNC:21695, HumanCyc Gene:HS00194, ModBase:Q9Y6U3, NCBI Gene:85477, OMIM:613416, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001106177, RefSeq Protein:NP_149119, RefSeq RNA:NM_001112706, RefSeq RNA:NM_033128, UniProtKB:Q9Y6U3 No chr7 12609989 12693228 12570349 12653603 +PA147357369 132320 HGNC:26406 ENSG00000151466 sodium channel and clathrin linker 1 SCLT1 FLJ30655, hCAP-1A Yes No Ensembl:ENSG00000151466, GeneCard:SCLT1, HGNC:HGNC:26406, HumanCyc Gene:HS14368, ModBase:Q96NL6, NCBI Gene:132320, OMIM:611399, RefSeq DNA:NT_016354, RefSeq Protein:NP_653244, RefSeq RNA:NM_144643, UniProtKB:Q96NL6 No chr4 129805148 130014764 128875206 129093607 +PA134979359 51540 HGNC:18161 ENSG00000132330 selenocysteine lyase SCLY putative selenocysteine lyase SCL Yes No Ensembl:ENSG00000132330, GeneCard:SCLY, HGNC:HGNC:18161, ModBase:Q96I15, NCBI Gene:51540, OMIM:611056, RefSeq DNA:NT_005120, RefSeq Protein:NP_057594, RefSeq RNA:NM_016510, UniProtKB:Q96I15 No chr2 238969565 239008054 238060924 238099413 +PA134870272 22955 HGNC:19003 ENSG00000010803 Scm polycomb group protein homolog 1 SCMH1 sex comb on midleg homolog 1 (Drosophila) Scml3 Yes No Ensembl:ENSG00000010803, GeneCard:SCMH1, HGNC:HGNC:19003, HumanCyc Gene:HS00292, ModBase:Q96GD3, NCBI Gene:22955, RefSeq DNA:NT_032977, RefSeq Protein:NP_001026864, RefSeq Protein:NP_001165689, RefSeq Protein:NP_001165690, RefSeq Protein:NP_001165691, RefSeq Protein:NP_001165692, RefSeq Protein:NP_001165693, RefSeq Protein:NP_036368, RefSeq RNA:NM_001031694, RefSeq RNA:NM_001172218, RefSeq RNA:NM_001172219, RefSeq RNA:NM_001172220, RefSeq RNA:NM_001172221, RefSeq RNA:NM_001172222, RefSeq RNA:NM_012236, UniProtKB:B3KMZ7, UniProtKB:B4DRQ8, UniProtKB:Q96GD3 No chr1 41492871 41707815 41027199 41242155 +PA34998 6322 HGNC:10580 ENSG00000047634 Scm polycomb group protein like 1 SCML1 sex comb on midleg-like 1 (Drosophila) Yes No Ensembl:ENSG00000047634, GenAtlas:SCML1, GeneCard:SCML1, HGNC:HGNC:10580, HumanCyc Gene:HS00593, ModBase:Q9UN30, NCBI Gene:6322, OMIM:300227, RefSeq DNA:NT_167197, RefSeq Protein:NP_001032624, RefSeq Protein:NP_001032625, RefSeq Protein:NP_001032629, RefSeq Protein:NP_006737, RefSeq RNA:NM_001037535, RefSeq RNA:NM_001037536, RefSeq RNA:NM_001037540, RefSeq RNA:NM_006746, UCSC Genome Browser:NM_006746, UniProtKB:Q9UN30 No chrX 17755591 17773105 17737449 17754988 +PA34999 10389 HGNC:10581 ENSG00000102098 Scm polycomb group protein like 2 SCML2 sex comb on midleg-like 2 (Drosophila) Yes No Ensembl:ENSG00000102098, GenAtlas:SCML2, GeneCard:SCML2, HGNC:HGNC:10581, HumanCyc Gene:HS02351, ModBase:Q9UQR0, NCBI Gene:10389, OMIM:300208, RefSeq DNA:NG_021431, RefSeq DNA:NT_167197, RefSeq Protein:NP_006080, RefSeq RNA:NM_006089, RefSeq RNA:NR_033717, UCSC Genome Browser:NM_006089, UniProtKB:Q9UQR0 No chrX 18257433 18372844 18239313 18355089 +PA134946179 256380 HGNC:21397 ENSG00000146285 Scm polycomb group protein like 4 SCML4 sex comb on midleg-like 4 (Drosophila) dJ47M23.1 Yes No Ensembl:ENSG00000146285, GeneCard:SCML4, HGNC:HGNC:21397, NCBI Gene:256380, RefSeq DNA:NT_025741, RefSeq Protein:NP_932347, RefSeq RNA:NM_198081, UniProtKB:Q8N228 No chr6 108023361 108145521 107697297 107845959 +PA35000 6336 HGNC:10582 ENSG00000185313 sodium voltage-gated channel alpha subunit 10 SCN10A """peripheral nerve sodium channel 3"", ""sensory neuron sodium channel"", ""sodium channel, voltage-gated, type X, alpha subunit""" Nav1.8, PN3, SNS, hPN3 Yes Yes Ensembl:ENSG00000185313, GenAtlas:SCN10A, GeneCard:SCN10A, HGNC:HGNC:10582, IUPHAR Receptor:585, ModBase:Q9Y5Y9, NCBI Gene:6336, OMIM:604427, RefSeq DNA:NT_022517, RefSeq Protein:NP_006505, RefSeq RNA:NM_006514, UCSC Genome Browser:NM_006514, UniProtKB:Q9Y5Y9 No chr3 38738837 38835501 38697110 38794010 +PA35001 11280 HGNC:10583 ENSG00000168356 sodium voltage-gated channel alpha subunit 11 SCN11A sodium channel, voltage-gated, type XI, alpha subunit NaN, Nav1.9, SCN12A, SNS-2 Yes No Comparative Toxicogenomics Database:11280, Ensembl:ENSG00000168356, GenAtlas:SCN11A, GeneCard:SCN11A, HGNC:HGNC:10583, HumanCyc Gene:HS09738, IUPHAR Receptor:586, ModBase:Q9UI33, NCBI Gene:11280, OMIM:604385, RefSeq DNA:NT_022517, RefSeq Protein:NP_054858, RefSeq RNA:NM_014139, UCSC Genome Browser:NM_014139, UniProtKB:Q9UI33 No chr3 38887260 38995136 38845764 39051986 +PA301 6323 HGNC:10585 ENSG00000144285 sodium voltage-gated channel alpha subunit 1 SCN1A sodium channel, voltage-gated, type I, alpha subunit FEB3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI Yes Yes Comparative Toxicogenomics Database:6323, Ensembl:ENSG00000144285, GenAtlas:SCN1A, GeneCard:SCN1A, HGNC:HGNC:10585, HumanCyc Gene:HS07163, IUPHAR Receptor:578, ModBase:P35498, NCBI Gene:6323, OMIM:182389, OMIM:604233, OMIM:604403, OMIM:607208, OMIM:609634, RefSeq DNA:NG_011906, RefSeq DNA:NT_005403, RefSeq Protein:NP_001159435, RefSeq Protein:NP_001159436, RefSeq Protein:NP_001189364, RefSeq Protein:NP_008851, RefSeq RNA:NM_001165963, RefSeq RNA:NM_001165964, RefSeq RNA:NM_001202435, RefSeq RNA:NM_006920, UCSC Genome Browser:NM_006920, UniProtKB:P35498, UniProtKB:Q8IUJ6 No chr2 166845670 167005642 165989160 166149216 +PA302 6324 HGNC:10586 ENSG00000105711 sodium voltage-gated channel beta subunit 1 SCN1B sodium channel, voltage-gated, type I, beta subunit Yes No Comparative Toxicogenomics Database:6324, Ensembl:ENSG00000105711, GenAtlas:SCN1B, GeneCard:SCN1B, HGNC:HGNC:10586, HumanCyc Gene:HS02803, ModBase:Q07699, NCBI Gene:6324, OMIM:600235, OMIM:604233, OMIM:612838, RefSeq DNA:NG_013359, RefSeq DNA:NT_011109, RefSeq Protein:NP_001028, RefSeq Protein:NP_950238, RefSeq RNA:NM_001037, RefSeq RNA:NM_199037, UCSC Genome Browser:NM_001037, UniProtKB:Q07699, UniProtKB:Q5TZZ4, UniProtKB:Q6TN97 No chr19 35521555 35531353 35030688 35040449 +PA35004 6326 HGNC:10588 ENSG00000136531 sodium voltage-gated channel alpha subunit 2 SCN2A sodium channel, voltage-gated, type II, alpha subunit HBSCI, HBSCII, Nav1.2, SCN2A1, SCN2A2 Yes Yes Comparative Toxicogenomics Database:6326, Ensembl:ENSG00000136531, GenAtlas:SCN2A2, GeneCard:SCN2A, GeneCard:SCN2A2, HGNC:HGNC:10588, HumanCyc Gene:HS06178, IUPHAR Receptor:579, NCBI Gene:6326, OMIM:182390, OMIM:601219, OMIM:607745, RefSeq DNA:NG_008143, RefSeq DNA:NT_005403, RefSeq Protein:NP_001035232, RefSeq Protein:NP_001035233, RefSeq Protein:NP_066287, RefSeq RNA:NM_001040142, RefSeq RNA:NM_001040143, RefSeq RNA:NM_021007, UCSC Genome Browser:NM_021007, UniProtKB:Q99250 No chr2 165986659 166248820 165208056 165392310 +PA303 6327 HGNC:10589 ENSG00000149575 sodium voltage-gated channel beta subunit 2 SCN2B sodium channel, voltage-gated, type II, beta subunit Yes No Comparative Toxicogenomics Database:6327, Ensembl:ENSG00000149575, GenAtlas:SCN2B, GeneCard:SCN2B, HGNC:HGNC:10589, HumanCyc Gene:HS07629, ModBase:O60939, NCBI Gene:6327, OMIM:601327, RefSeq DNA:NT_033899, RefSeq Protein:NP_004579, RefSeq RNA:NM_004588, UCSC Genome Browser:NM_004588, UniProtKB:O60939, UniProtKB:Q5U0K8 No chr11 118033519 118047337 118162804 118176622 +PA35005 6328 HGNC:10590 ENSG00000153253 sodium voltage-gated channel alpha subunit 3 SCN3A sodium channel, voltage-gated, type III, alpha subunit Nav1.3 Yes No Comparative Toxicogenomics Database:6328, Ensembl:ENSG00000153253, GenAtlas:SCN3A, GeneCard:SCN3A, HGNC:HGNC:10590, HumanCyc Gene:HS07898, IUPHAR Receptor:580, ModBase:Q9Y6P4, NCBI Gene:6328, OMIM:182391, RefSeq DNA:NT_005403, RefSeq Protein:NP_001075145, RefSeq Protein:NP_001075146, RefSeq Protein:NP_008853, RefSeq RNA:NM_001081676, RefSeq RNA:NM_001081677, RefSeq RNA:NM_006922, UCSC Genome Browser:NM_006922, UniProtKB:Q9C007, UniProtKB:Q9NY46 No chr2 165944030 166060577 165087520 165204295 +PA130546912 55800 HGNC:20665 ENSG00000166257 sodium voltage-gated channel beta subunit 3 SCN3B sodium channel, voltage-gated, type III, beta subunit HSA243396, SCNB3 Yes No Comparative Toxicogenomics Database:55800, Ensembl:ENSG00000166257, GeneCard:SCN3B, HGNC:HGNC:20665, HumanCyc Gene:HS09362, ModBase:Q9NY72, NCBI Gene:55800, OMIM:608214, OMIM:613120, RefSeq DNA:NG_016283, RefSeq DNA:NT_033899, RefSeq Protein:NP_001035241, RefSeq Protein:NP_060870, RefSeq RNA:NM_001040151, RefSeq RNA:NM_018400, UCSC Genome Browser:NM_018400, UniProtKB:Q9NY72 No chr11 123499895 123525315 123629187 123654607 +PA35006 6329 HGNC:10591 ENSG00000007314 sodium voltage-gated channel alpha subunit 4 SCN4A sodium channel, voltage-gated, type IV, alpha subunit HYKPP, HYPP, Nav1.4, SkM1 Yes Yes Comparative Toxicogenomics Database:6329, Ensembl:ENSG00000007314, GenAtlas:SCN4A, GeneCard:SCN4A, HGNC:HGNC:10591, HumanCyc Gene:HS00212, IUPHAR Receptor:581, ModBase:P35499, NCBI Gene:6329, OMIM:168300, OMIM:170400, OMIM:170500, OMIM:603967, OMIM:608390, OMIM:613345, RefSeq DNA:NG_011699, RefSeq DNA:NT_010783, RefSeq Protein:NP_000325, RefSeq RNA:NM_000334, UCSC Genome Browser:NM_000334, UniProtKB:P35499 No chr17 62015914 62066876 63938554 63972918 +PA35007 6330 HGNC:10592 ENSG00000177098 sodium voltage-gated channel beta subunit 4 SCN4B sodium channel, voltage-gated, type IV, beta subunit LQT10 Yes No Comparative Toxicogenomics Database:6330, Ensembl:ENSG00000177098, GenAtlas:SCN4B, GeneCard:SCN4B, HGNC:HGNC:10592, ModBase:Q8IWT1, NCBI Gene:6330, OMIM:608256, OMIM:611819, RefSeq DNA:NG_011710, RefSeq DNA:NT_033899, RefSeq Protein:NP_001135820, RefSeq Protein:NP_001135821, RefSeq Protein:NP_777594, RefSeq RNA:NM_001142348, RefSeq RNA:NM_001142349, RefSeq RNA:NM_174934, RefSeq RNA:NR_024527, UCSC Genome Browser:NM_174934, UniProtKB:B0YJ93, UniProtKB:Q8IWT1 No chr11 118004092 118023630 118133377 118152915 +PA304 6331 HGNC:10593 ENSG00000183873 sodium voltage-gated channel alpha subunit 5 SCN5A """long QT syndrome 3"", ""sodium channel, voltage-gated, type V, alpha subunit""" CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1 Yes Yes Comparative Toxicogenomics Database:6331, Ensembl:ENSG00000183873, GenAtlas:SCN5A, GeneCard:SCN5A, HGNC:HGNC:10593, IUPHAR Receptor:582, ModBase:Q14524, NCBI Gene:6331, OMIM:113900, OMIM:272120, OMIM:600163, OMIM:601144, OMIM:601154, OMIM:603829, OMIM:603830, OMIM:608567, RefSeq DNA:NG_008934, RefSeq DNA:NT_022517, RefSeq Protein:NP_000326, RefSeq Protein:NP_001092874, RefSeq Protein:NP_001092875, RefSeq Protein:NP_001153632, RefSeq Protein:NP_001153633, RefSeq Protein:NP_932173, RefSeq RNA:NM_000335, RefSeq RNA:NM_001099404, RefSeq RNA:NM_001099405, RefSeq RNA:NM_001160160, RefSeq RNA:NM_001160161, RefSeq RNA:NM_198056, UCSC Genome Browser:NM_000335, UniProtKB:Q14524, UniProtKB:Q59H93, UniProtKB:Q86V90 No chr3 38589553 38691164 38548061 38649673 +PA35008 6332 HGNC:10594 ENSG00000136546 sodium voltage-gated channel alpha subunit 7 SCN7A sodium channel, voltage-gated, type VII, alpha subunit NaG, Nav2.1, Nav2.2, SCN6A Yes No Comparative Toxicogenomics Database:6332, Ensembl:ENSG00000136546, GenAtlas:SCN7A, GeneCard:SCN7A, HGNC:HGNC:10594, HumanCyc Gene:HS06181, ModBase:Q01118, NCBI Gene:6332, OMIM:182392, RefSeq DNA:NT_005403, RefSeq Protein:NP_002967, RefSeq RNA:NM_002976, UCSC Genome Browser:NM_002976, UniProtKB:Q01118 No chr2 167260083 167343481 166403573 166494264 +PA35009 6334 HGNC:10596 ENSG00000196876 sodium voltage-gated channel alpha subunit 8 SCN8A sodium channel, voltage gated, type VIII, alpha subunit CIAT, CerIII, MED, NaCh6, Nav1.6, PN4 Yes Yes Comparative Toxicogenomics Database:6334, Ensembl:ENSG00000196876, GenAtlas:SCN8A, GeneCard:SCN8A, HGNC:HGNC:10596, IUPHAR Receptor:583, ModBase:Q9UQD0, NCBI Gene:6334, OMIM:600702, RefSeq DNA:NG_021180, RefSeq DNA:NT_029419, RefSeq Protein:NP_001171455, RefSeq Protein:NP_055006, RefSeq RNA:NM_001177984, RefSeq RNA:NM_014191, RefSeq RNA:XR_110352, UCSC Genome Browser:NM_014191, UniProtKB:Q9UQD0 No chr12 51984050 52206648 51589959 51812865 +PA35010 6335 HGNC:10597 ENSG00000169432 sodium voltage-gated channel alpha subunit 9 SCN9A sodium channel, voltage-gated, type IX, alpha subunit ETHA, NE-NA, NENA, Nav1.7, PN1 Yes Yes Comparative Toxicogenomics Database:6335, Ensembl:ENSG00000169432, GenAtlas:SCN9A, GeneCard:SCN9A, HGNC:HGNC:10597, HumanCyc Gene:HS09948, IUPHAR Receptor:584, ModBase:Q15858, NCBI Gene:6335, OMIM:133020, OMIM:167400, OMIM:243000, OMIM:603415, OMIM:604403, RefSeq DNA:NG_012798, RefSeq DNA:NT_005403, RefSeq Protein:NP_002968, RefSeq RNA:NM_002977, UCSC Genome Browser:NM_002977, UniProtKB:Q15858 No chr2 167051695 167232497 166195185 166375987 +PA134958437 79005 HGNC:23136 ENSG00000163156 sodium channel modifier 1 SCNM1 MGC3180 Yes No Comparative Toxicogenomics Database:79005, Ensembl:ENSG00000163156, GeneCard:SCNM1, HGNC:HGNC:23136, HumanCyc Gene:HS15033, ModBase:Q9BWG6, NCBI Gene:79005, OMIM:608095, RefSeq DNA:NT_004487, RefSeq Protein:NP_001191785, RefSeq Protein:NP_076946, RefSeq RNA:NM_001204856, RefSeq RNA:NM_024041, RefSeq RNA:NR_037937, UniProtKB:Q9BWG6 No chr1 151138482 151142773 151166022 151170297 +PA305 6337 HGNC:10599 ENSG00000111319 sodium channel epithelial 1 subunit alpha SCNN1A """amiloride-sensitive sodium channel subunit alpha"", ""sodium channel epithelial 1 alpha subunit"", ""sodium channel, non-voltage-gated 1 alpha subunit""" ENaCalpha, SCNN1 Yes No Comparative Toxicogenomics Database:6337, Ensembl:ENSG00000111319, GenAtlas:SCNN1A, GeneCard:SCNN1A, HGNC:HGNC:10599, HumanCyc Gene:HS03398, ModBase:P37088, NCBI Gene:6337, OMIM:264350, OMIM:600228, OMIM:613021, RefSeq DNA:NG_011945, RefSeq DNA:NT_009759, RefSeq Protein:NP_001029, RefSeq Protein:NP_001153047, RefSeq Protein:NP_001153048, RefSeq RNA:NM_001038, RefSeq RNA:NM_001159575, RefSeq RNA:NM_001159576, UCSC Genome Browser:NM_001038, UniProtKB:B4E2Q5, UniProtKB:P37088 No chr12 6456009 6486896 6346843 6377357 +PA306 6338 HGNC:10600 ENSG00000168447 sodium channel epithelial 1 subunit beta SCNN1B """Liddle syndrome"", ""amiloride-sensitive sodium channel subunit beta"", ""sodium channel epithelial 1 beta subunit"", ""sodium channel, non-voltage-gated 1, beta subunit""" ENaCbeta Yes Yes Comparative Toxicogenomics Database:6338, Ensembl:ENSG00000168447, GenAtlas:SCNN1B, GeneCard:SCNN1B, HGNC:HGNC:10600, HumanCyc Gene:HS09761, ModBase:P51168, NCBI Gene:6338, OMIM:177200, OMIM:211400, OMIM:264350, OMIM:600760, RefSeq DNA:NG_011908, RefSeq DNA:NT_010393, RefSeq Protein:NP_000327, RefSeq RNA:NM_000336, UCSC Genome Browser:NM_000336, UniProtKB:B2R812, UniProtKB:P51168 No chr16 23313591 23392620 23278231 23381299 +PA35011 6339 HGNC:10601 ENSG00000162572 sodium channel epithelial 1 subunit delta SCNN1D """sodium channel epithelial 1 delta subunit"", ""sodium channel, non-voltage-gated 1, delta subunit""" ENaCdelta, dNaCh Yes No Ensembl:ENSG00000162572, GenAtlas:SCNN1D, GeneCard:SCNN1D, HGNC:HGNC:10601, HumanCyc Gene:HS08694, ModBase:P51172, NCBI Gene:6339, OMIM:601328, RefSeq DNA:NT_004350, RefSeq Protein:NP_001123885, RefSeq Protein:NP_002969, RefSeq RNA:NM_001130413, RefSeq RNA:NM_002978, RefSeq RNA:NR_037668, UCSC Genome Browser:NM_002978, UniProtKB:B1PS44, UniProtKB:P51172 No chr1 1215816 1227409 1280415 1292029 +PA307 6340 HGNC:10602 ENSG00000166828 sodium channel epithelial 1 subunit gamma SCNN1G """amiloride-sensitive sodium channel subunit gamma"", ""sodium channel epithelial 1 gamma subunit"", ""sodium channel, non-voltage-gated 1, gamma subunit""" ENaCgamma, SCNEG Yes Yes Comparative Toxicogenomics Database:6340, Ensembl:ENSG00000166828, GenAtlas:SCNN1G, GeneCard:SCNN1G, HGNC:HGNC:10602, HumanCyc Gene:HS09458, ModBase:Q96TD2, NCBI Gene:6340, OMIM:177200, OMIM:264350, OMIM:600761, OMIM:613071, RefSeq DNA:NG_011909, RefSeq DNA:NT_010393, RefSeq Protein:NP_001030, RefSeq RNA:NM_001039, UCSC Genome Browser:NM_001039, UniProtKB:A5X2V1, UniProtKB:P51170 No chr16 23194040 23228201 23182719 23216879 +PA35012 6341 HGNC:10603 ENSG00000133028 synthesis of cytochrome C oxidase 1 SCO1 """SCO cytochrome c oxidase assembly protein 1"", ""SCO1 cytochrome c oxidase assembly protein"", ""SCO1, cytochrome c oxidase assembly protein""" SCOD1 Yes No Comparative Toxicogenomics Database:6341, Ensembl:ENSG00000133028, GenAtlas:SCO1, GeneCard:SCO1, HGNC:HGNC:10603, HumanCyc Gene:HS05722, ModBase:O75880, NCBI Gene:6341, OMIM:603644, RefSeq DNA:NG_008228, RefSeq DNA:NT_010718, RefSeq Protein:NP_004580, RefSeq RNA:NM_004589, UCSC Genome Browser:NM_004589, UniProtKB:O75880 No chr17 10583649 10600885 10679770 10697568 +PA35013 9997 HGNC:10604 ENSG00000284194 synthesis of cytochrome C oxidase 2 SCO2 """SCO cytochrome c oxidase assembly protein 2"", ""SCO2 cytochrome c oxidase assembly protein"", ""SCO2, cytochrome c oxidase assembly protein""" MYP6, SCO1L Yes No Comparative Toxicogenomics Database:9997, Ensembl:ENSG00000284194, GenAtlas:SCO2, GeneCard:SCO2, HGNC:HGNC:10604, HumanCyc Gene:HS05390, ModBase:O43819, NCBI Gene:9997, OMIM:604272, OMIM:604377, RefSeq DNA:NG_016235, RefSeq DNA:NT_011526, RefSeq Protein:NP_001162580, RefSeq Protein:NP_001162581, RefSeq Protein:NP_001162582, RefSeq Protein:NP_005129, RefSeq RNA:NM_001169109, RefSeq RNA:NM_001169110, RefSeq RNA:NM_001169111, RefSeq RNA:NM_005138, UCSC Genome Browser:NM_005138, UniProtKB:O43819 No chr22 50961997 50964868 50523568 50526439 +PA134972148 60592 HGNC:20335 ENSG00000153130 short coiled-coil protein SCOC HRIHFB2072, SCOCO, UNC-69 Yes No Comparative Toxicogenomics Database:60592, Ensembl:ENSG00000153130, GeneCard:SCOC, HGNC:HGNC:20335, HumanCyc Gene:HS14457, NCBI Gene:60592, RefSeq DNA:NT_016354, RefSeq Protein:NP_001146918, RefSeq Protein:NP_001146956, RefSeq Protein:NP_001147024, RefSeq Protein:NP_001147057, RefSeq Protein:NP_001147107, RefSeq Protein:NP_001147135, RefSeq Protein:NP_001147162, RefSeq Protein:NP_115936, RefSeq RNA:NM_001153446, RefSeq RNA:NM_001153484, RefSeq RNA:NM_001153552, RefSeq RNA:NM_001153585, RefSeq RNA:NM_001153635, RefSeq RNA:NM_001153663, RefSeq RNA:NM_001153690, RefSeq RNA:NM_032547, UniProtKB:Q9UIL1 No chr4 141178440 141303710 140257286 140382556 +PA134978044 317767 HGNC:20339 ENSG00000258896 short coiled-coil protein pseudogene 1 SCOCP1 Yes No Ensembl:ENSG00000258896, GeneCard:SCOCP1, HGNC:HGNC:20339, NCBI Gene:317767, RefSeq DNA:NG_011824 No chr14 60625677 60628143 60159011 60161425 +PA35014 6342 HGNC:10606 ENSG00000116171, ENSG00000251612 sterol carrier protein 2 SCP2 Yes No Comparative Toxicogenomics Database:6342, Ensembl:ENSG00000116171, Ensembl:ENSG00000251612, GenAtlas:SCP2, GeneCard:SCP2, HGNC:HGNC:10606, HumanCyc Gene:HS03991, ModBase:P22307, NCBI Gene:6342, OMIM:184755, RefSeq DNA:NG_012211, RefSeq DNA:NT_032977, RefSeq Protein:NP_001007099, RefSeq Protein:NP_001007100, RefSeq Protein:NP_001007101, RefSeq Protein:NP_001007251, RefSeq Protein:NP_001180528, RefSeq Protein:NP_001180529, RefSeq Protein:NP_001180546, RefSeq Protein:NP_002970, RefSeq RNA:NM_001007098, RefSeq RNA:NM_001007099, RefSeq RNA:NM_001007100, RefSeq RNA:NM_001007250, RefSeq RNA:NM_001193599, RefSeq RNA:NM_001193600, RefSeq RNA:NM_001193617, RefSeq RNA:NM_002979, UCSC Genome Browser:NM_002979, UniProtKB:P22307, UniProtKB:Q6NXF4 No chr1 53392901 53517289 52927229 53051617 +PA25788 140856 HGNC:16211 ENSG00000132631 SCP2 sterol binding domain containing 1 SCP2D1 SCP2 sterol-binding domain containing 1, sterol carrier protein 2-like protein C20orf79, HSD22, dJ1068E13.2 Yes No Ensembl:ENSG00000132631, GenAtlas:C20orf79, GeneCard:C20orf79, HGNC:HGNC:16211, ModBase:Q9UJQ7, NCBI Gene:140856, RefSeq DNA:NT_011387, RefSeq Protein:NP_848578, RefSeq RNA:NM_178483, UCSC Genome Browser:NM_178483, UniProtKB:Q9UJQ7 No chr20 18794370 18795036 18813726 18814392 +PA134960711 59342 HGNC:29507 ENSG00000121064 serine carboxypeptidase 1 SCPEP1 retinoid inducible serine carboxypeptidase RISC Yes No Comparative Toxicogenomics Database:59342, Ensembl:ENSG00000121064, GeneCard:SCPEP1, HGNC:HGNC:29507, HumanCyc Gene:HS04467, ModBase:Q9HB40, NCBI Gene:59342, RefSeq DNA:NT_010783, RefSeq Protein:NP_067639, RefSeq RNA:NM_021626, UniProtKB:Q9H2J9, UniProtKB:Q9HB40 No chr17 55055468 55084129 56978107 57006768 +PA166352101 105377321 HGNC:56851 secretory calcium-binding phosphoprotein proline-glutamine rich 1 SCPPPQ1 Yes No HGNC:HGNC:56851, NCBI Gene:105377321 No 0 0 0 0 +PA165664478 11341 HGNC:17036 ENSG00000164106 stimulator of chondrogenesis 1 SCRG1 scrapie responsive gene 1 SCRG-1, lincSCRG1 Yes No Ensembl:ENSG00000164106, GeneCard:SCRG1, HGNC:HGNC:17036, HumanCyc Gene:HS09014, NCBI Gene:11341, OMIM:603163, RefSeq DNA:NT_016354, RefSeq Protein:NP_009212, RefSeq RNA:NM_007281, UniProtKB:O75711, UniProtKB:Q6FGG5 No chr4 174309299 174320617 173388148 173486378 +PA134936275 23513 HGNC:30377 ENSG00000180900 scribble planar cell polarity protein SCRIB scribbled planar cell polarity protein KIAA0147, SCRB1, Vartul Yes No Comparative Toxicogenomics Database:23513, Ensembl:ENSG00000180900, GeneCard:SCRIB, HGNC:HGNC:30377, HumanCyc Gene:HS11544, ModBase:Q14160, NCBI Gene:23513, OMIM:607733, RefSeq DNA:NT_008046, RefSeq Protein:NP_056171, RefSeq Protein:NP_874365, RefSeq RNA:NM_015356, RefSeq RNA:NM_182706, UniProtKB:A0PJK8, UniProtKB:Q14160 No chr8 144873090 144897890 143790920 143815379 +PA134874373 9805 HGNC:22192 ENSG00000136193 secernin 1 SCRN1 KIAA0193 Yes No Comparative Toxicogenomics Database:9805, Ensembl:ENSG00000136193, GeneCard:SCRN1, HGNC:HGNC:22192, HumanCyc Gene:HS13618, NCBI Gene:9805, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001138985, RefSeq Protein:NP_001138986, RefSeq Protein:NP_001138987, RefSeq Protein:NP_055581, RefSeq RNA:NM_001145513, RefSeq RNA:NM_001145514, RefSeq RNA:NM_001145515, RefSeq RNA:NM_014766, UniProtKB:B4DHM0, UniProtKB:B4DIP5, UniProtKB:Q12765 No chr7 29959719 30029905 29920103 29990289 +PA134964266 90507 HGNC:30381 ENSG00000141295 secernin 2 SCRN2 Yes No Ensembl:ENSG00000141295, GeneCard:SCRN2, HGNC:HGNC:30381, HumanCyc Gene:HS13870, NCBI Gene:90507, RefSeq DNA:NT_010783, RefSeq Protein:NP_001138495, RefSeq Protein:NP_612364, RefSeq RNA:NM_001145023, RefSeq RNA:NM_138355, UniProtKB:Q96FV2, UniProtKB:Q9BU04 No chr17 45915047 45918699 47837681 47841333 +PA134974313 79634 HGNC:30382 ENSG00000144306 secernin 3 SCRN3 FLJ23142 Yes No Comparative Toxicogenomics Database:79634, Ensembl:ENSG00000144306, GeneCard:SCRN3, HGNC:HGNC:30382, HumanCyc Gene:HS14014, ModBase:Q0VDG4, NCBI Gene:79634, RefSeq DNA:NT_005403, RefSeq Protein:NP_001180457, RefSeq Protein:NP_078859, RefSeq RNA:NM_001193528, RefSeq RNA:NM_024583, UniProtKB:Q0VDG4 No chr2 175260457 175294303 174395729 174430071 +PA35015 83482 HGNC:15950 ENSG00000261678 scratch family transcriptional repressor 1 SCRT1 """scratch family zinc finger 1"", ""scratch homolog 1, zinc finger protein (Drosophila)""" DKFZp547F072, ZNF898 Yes No Ensembl:ENSG00000261678, GenAtlas:SCRT1, GeneCard:SCRT1, HGNC:HGNC:15950, ModBase:Q9BWW7, NCBI Gene:83482, OMIM:605858, RefSeq DNA:NT_037704, RefSeq Protein:NP_112599, RefSeq RNA:NM_031309, UCSC Genome Browser:NM_031309, UniProtKB:Q9BWW7 No chr8 145554228 145559943 144330565 144336281 +PA35016 85508 HGNC:15952 ENSG00000215397 scratch family transcriptional repressor 2 SCRT2 """scratch family zinc finger 2"", ""scratch homolog 2, zinc finger protein (Drosophila)""" ZNF898B Yes No Comparative Toxicogenomics Database:85508, Ensembl:ENSG00000215397, GenAtlas:SCRT2, GeneCard:SCRT2, HGNC:HGNC:15952, ModBase:Q9NQ03, NCBI Gene:85508, RefSeq DNA:NT_011387, RefSeq Protein:NP_149120, RefSeq RNA:NM_033129, UniProtKB:Q9NQ03 No chr20 642240 656823 661596 676179 +PA35017 6343 HGNC:10607 ENSG00000070031 secretin SCT prepro-secretin Yes No Comparative Toxicogenomics Database:6343, Ensembl:ENSG00000070031, GenAtlas:SCT, GeneCard:SCT, HGNC:HGNC:10607, HumanCyc Gene:HS00980, ModBase:P09683, NCBI Gene:6343, OMIM:182099, RefSeq DNA:NT_009237, RefSeq Protein:NP_068739, RefSeq RNA:NM_021920, UCSC Genome Browser:NM_021920, UniProtKB:P09683 No chr11 626313 627173 626095 627692 +PA35018 6344 HGNC:10608 ENSG00000080293 secretin receptor SCTR Yes No Comparative Toxicogenomics Database:6344, Ensembl:ENSG00000080293, GenAtlas:SCTR, GeneCard:SCTR, HGNC:HGNC:10608, HumanCyc Gene:HS01351, IUPHAR Receptor:252, ModBase:P47872, NCBI Gene:6344, OMIM:182098, RefSeq DNA:NT_022135, RefSeq Protein:NP_002971, RefSeq RNA:NM_002980, UCSC Genome Browser:NM_002980, UniProtKB:P47872, UniProtKB:Q8IV17 No chr2 120197419 120282028 119439843 119524452 +PA35019 80274 HGNC:13441 ENSG00000159307 signal peptide, CUB domain and EGF like domain containing 1 SCUBE1 signal peptide, CUB domain, EGF-like 1 Yes No Ensembl:ENSG00000159307, GenAtlas:SCUBE1, GeneCard:SCUBE1, HGNC:HGNC:13441, HumanCyc Gene:HS14753, ModBase:Q8IWY4, NCBI Gene:80274, OMIM:611746, RefSeq DNA:NT_011520, RefSeq Protein:NP_766638, RefSeq RNA:NM_173050, UCSC Genome Browser:NM_173050, UniProtKB:Q6ZS56, UniProtKB:Q8IWY4 No chr22 43599229 43739394 43203223 43343388 +PA134908812 57758 HGNC:30425 ENSG00000175356 signal peptide, CUB domain and EGF like domain containing 2 SCUBE2 signal peptide, CUB domain, EGF-like 2 Cegb1, Cegf1, FLJ16792 Yes No Ensembl:ENSG00000175356, GeneCard:SCUBE2, HGNC:HGNC:30425, HumanCyc Gene:HS10920, ModBase:Q9NQ36, NCBI Gene:57758, OMIM:611747, RefSeq DNA:NT_009237, RefSeq Protein:NP_001164161, RefSeq Protein:NP_066025, RefSeq RNA:NM_001170690, RefSeq RNA:NM_020974, UniProtKB:Q9NQ36 No chr11 9041047 9113150 9019500 9091603 +PA134977856 222663 HGNC:13655 ENSG00000146197 signal peptide, CUB domain and EGF like domain containing 3 SCUBE3 signal peptide, CUB domain, EGF-like 3 CEGF3, FLJ34743 Yes No Ensembl:ENSG00000146197, GeneCard:SCUBE3, HGNC:HGNC:13655, HumanCyc Gene:HS07331, ModBase:Q8IX30, NCBI Gene:222663, RefSeq DNA:NT_007592, RefSeq Protein:NP_689966, RefSeq RNA:NM_152753, UniProtKB:Q8IX30 No chr6 35181824 35220856 35214047 35253079 +PA142670943 642658 HGNC:32322 ENSG00000260428 scleraxis bHLH transcription factor SCX scleraxis basic helix-loop-helix transcription factor, scleraxis homolog B (mouse) SCXA, SCXB, bHLHa41, bHLHa48 Yes No Ensembl:ENSG00000260428, GeneCard:SCXB, HGNC:HGNC:32322, ModBase:Q7RTU7, NCBI Gene:642658, RefSeq DNA:NT_008046, RefSeq Protein:NP_001073983, RefSeq RNA:NM_001080514, UniProtKB:Q7RTU7 No chr8 145321517 145323045 144265060 144268483 +PA166181619 112441428 HGNC:34218 ENSG00000284629 small cysteine and glycine repeat containing 1 SCYGR1 keratin associated protein 28-1 KRTAP28-1 Yes No Ensembl:ENSG00000284629, HGNC:HGNC:34218, NCBI Gene:112441428 No 0 0 0 0 +PA166181628 112441436 HGNC:34221 ENSG00000284622 small cysteine and glycine repeat containing 10 (gene/pseudogene) SCYGR10 keratin associated protein 28 family pseudogene 2, keratin associated protein 28-910 KRTAP28-10, KRTAP28p2 Yes No Ensembl:ENSG00000284622, HGNC:HGNC:34221, NCBI Gene:112441436 No 0 0 0 0 +PA166181620 112441435 HGNC:34220 ENSG00000284643 small cysteine and glycine repeat containing 2 SCYGR2 keratin associated protein 28-2 KRTAP28-2 Yes No Ensembl:ENSG00000284643, HGNC:HGNC:34220, NCBI Gene:112441435 No 0 0 0 0 +PA166181621 112441429 HGNC:34222 ENSG00000284704 small cysteine and glycine repeat containing 3 SCYGR3 keratin associated protein 28-3 KRTAP28-3 Yes No Ensembl:ENSG00000284704, HGNC:HGNC:34222, NCBI Gene:112441429 No 0 0 0 0 +PA166181622 112441430 HGNC:34223 ENSG00000284631 small cysteine and glycine repeat containing 4 SCYGR4 keratin associated protein 28-4 KRTAP28-4 Yes No Ensembl:ENSG00000284631, HGNC:HGNC:34223, NCBI Gene:112441430 No 0 0 0 0 +PA166181623 112441437 HGNC:34224 ENSG00000284667 small cysteine and glycine repeat containing 5 SCYGR5 keratin associated protein 28-5 KRTAP28-5 Yes No Ensembl:ENSG00000284667, HGNC:HGNC:34224, NCBI Gene:112441437 No 0 0 0 0 +PA166181624 112441431 HGNC:34225 ENSG00000284725 small cysteine and glycine repeat containing 6 SCYGR6 keratin associated protein 28-6 KRTAP28-6 Yes No Ensembl:ENSG00000284725, HGNC:HGNC:34225, NCBI Gene:112441431 No 0 0 0 0 +PA166181625 112441438 HGNC:34226 ENSG00000284718 small cysteine and glycine repeat containing 7 SCYGR7 keratin associated protein 28-7 KRTAP28-7 Yes No Ensembl:ENSG00000284718, HGNC:HGNC:34226, NCBI Gene:112441438 No 0 0 0 0 +PA166181626 112441432 HGNC:34227 ENSG00000284635 small cysteine and glycine repeat containing 8 SCYGR8 keratin associated protein 28-8 KRTAP28-8 Yes No Ensembl:ENSG00000284635, HGNC:HGNC:34227, NCBI Gene:112441432 No 0 0 0 0 +PA166181627 117134595 HGNC:34219 ENSG00000285843 small cysteine and glycine repeat containing 9 (gene/pseudogene) SCYGR9 keratin associated protein 28 family pseudogene 1, keratin associated protein 28-9 KRTAP28-9, KRTAP28p1 Yes No Ensembl:ENSG00000285843, HGNC:HGNC:34219, NCBI Gene:117134595 No 0 0 0 0 +PA31812 57410 HGNC:14372 ENSG00000142186 SCY1 like pseudokinase 1 SCYL1 SCY1-like 1 (S. cerevisiae), telomerase regulation-associated protein, telomerase transcriptional elements-interacting factor, teratoma-associated tyrosine kinase GKLP, HT019, MGC78454, NKTL, NTKL, P105, TAPK, TEIF, TRAP Yes No Comparative Toxicogenomics Database:57410, Ensembl:ENSG00000142186, GeneCard:SCYL1, HGNC:HGNC:14372, HumanCyc Gene:HS06904, ModBase:Q96KG9, NCBI Gene:57410, OMIM:607982, RefSeq DNA:NT_167190, RefSeq Protein:NP_001041683, RefSeq Protein:NP_065731, RefSeq RNA:NM_001048218, RefSeq RNA:NM_020680, UCSC Genome Browser:NM_020680, UniProtKB:Q96KG9 No chr11 65292537 65306182 65525065 65538711 +PA134887807 55681 HGNC:19286 ENSG00000136021 SCY1 like pseudokinase 2 SCYL2 SCY1-like 2 (S. cerevisiae), coated vesicle-associated kinase of 104 kDa CVAK104, KIAA1360 Yes No Ensembl:ENSG00000136021, GeneCard:SCYL2, HGNC:HGNC:19286, HumanCyc Gene:HS06104, ModBase:Q6P3W7, NCBI Gene:55681, RefSeq DNA:NT_029419, RefSeq Protein:NP_060458, RefSeq RNA:NM_017988, UniProtKB:Q6P3W7 No chr12 100660918 100735502 100267137 100341724 +PA142670945 57147 HGNC:19285 ENSG00000000457 SCY1 like pseudokinase 3 SCYL3 SCY1-like 3 (S. cerevisiae), ezrin-binding partner PACE-1 PACE-1, PACE1 Yes No Comparative Toxicogenomics Database:57147, Ensembl:ENSG00000000457, GeneCard:SCYL3, HGNC:HGNC:19285, HumanCyc Gene:HS00066, ModBase:Q8IZE3, NCBI Gene:57147, OMIM:608192, RefSeq DNA:NT_004487, RefSeq Protein:NP_065156, RefSeq Protein:NP_851607, RefSeq RNA:NM_020423, RefSeq RNA:NM_181093, UniProtKB:Q8IZE3 No chr1 169822215 169863100 169853074 169894267 +PA134961441 55153 HGNC:25537 ENSG00000198301 SDA1 domain containing 1 SDAD1 FLJ10498, Sda1, hSDA Yes No Comparative Toxicogenomics Database:55153, Ensembl:ENSG00000198301, GeneCard:SDAD1, HGNC:HGNC:25537, NCBI Gene:55153, RefSeq DNA:NT_016354, RefSeq Protein:NP_060585, RefSeq RNA:NM_018115, UniProtKB:Q9NVU7 No chr4 76871064 76912115 75949906 75990962 +PA134866782 157489 HGNC:31403 ENSG00000228451 SDA1 domain containing 1 pseudogene 1 SDAD1P1 Yes No Ensembl:ENSG00000228451, GeneCard:SDAD1P1, HGNC:HGNC:31403, NCBI Gene:157489, RefSeq DNA:NG_006994, RefSeq DNA:NT_167187 No chr8 26236446 26239152 26378730 26381636 +PA134900186 400836 HGNC:31404 ENSG00000230750 SDA1 domain containing 1 pseudogene 2 SDAD1P2 Yes No Ensembl:ENSG00000230750, GeneCard:SDAD1P2, HGNC:HGNC:31404, NCBI Gene:400836 No chr20 10366427 10368463 10385685 10388625 +PA35588 6382 HGNC:10658 ENSG00000115884 syndecan 1 SDC1 syndecan proteoglycan 1 CD138, SDC, SYND1, syndecan Yes No Comparative Toxicogenomics Database:6382, Ensembl:ENSG00000115884, GenAtlas:SDC1, GeneCard:SDC1, HGNC:HGNC:10658, HumanCyc Gene:HS03948, ModBase:P18827, NCBI Gene:6382, OMIM:186355, RefSeq DNA:NT_015926, RefSeq Protein:NP_001006947, RefSeq Protein:NP_002988, RefSeq RNA:NM_001006946, RefSeq RNA:NM_002997, UCSC Genome Browser:NM_002997, UniProtKB:P18827 No chr2 20400558 20425194 20200797 20225433 +PA35589 6383 HGNC:10659 ENSG00000169439 syndecan 2 SDC2 syndecan proteoglycan 2 CD362, HSPG, HSPG1, SYND2, fibroglycan Yes No Comparative Toxicogenomics Database:6383, Ensembl:ENSG00000169439, GenAtlas:SDC2, GeneCard:SDC2, HGNC:HGNC:10659, HumanCyc Gene:HS09950, ModBase:P34741, NCBI Gene:6383, OMIM:142460, RefSeq DNA:NT_008046, RefSeq Protein:NP_002989, RefSeq RNA:NM_002998, UCSC Genome Browser:NM_002998, UniProtKB:P34741, UniProtKB:Q6PIS6 No chr8 97505579 97624037 96493654 96611809 +PA35590 9672 HGNC:10660 ENSG00000162512 syndecan 3 SDC3 syndecan proteoglycan 3 N-syndecan, SYND3 Yes No Comparative Toxicogenomics Database:9672, Ensembl:ENSG00000162512, GenAtlas:SDC3, GeneCard:SDC3, HGNC:HGNC:10660, HumanCyc Gene:HS08687, ModBase:O75056, NCBI Gene:9672, OMIM:186357, OMIM:601665, RefSeq DNA:NG_013371, RefSeq DNA:NT_032977, RefSeq Protein:NP_055469, RefSeq RNA:NM_014654, UCSC Genome Browser:NM_014654, UniProtKB:O75056 No chr1 31342313 31381480 30869466 30909735 +PA35591 6385 HGNC:10661 ENSG00000124145 syndecan 4 SDC4 syndecan proteoglycan 4 SYND4, amphiglycan, ryudocan Yes No Comparative Toxicogenomics Database:6385, Ensembl:ENSG00000124145, GenAtlas:SDC4, GeneCard:SDC4, HGNC:HGNC:10661, HumanCyc Gene:HS04720, ModBase:P31431, NCBI Gene:6385, OMIM:600017, RefSeq DNA:NT_011362, RefSeq Protein:NP_002990, RefSeq RNA:NM_002999, UCSC Genome Browser:NM_002999, UniProtKB:P31431, UniProtKB:Q6FGN3 No chr20 43953928 43977064 45325288 45348424 +PA38751 376844 HGNC:18903 ENSG00000214161 syndecan 4 pseudogene SDC4P Yes No Ensembl:ENSG00000214161, GenAtlas:SDC4P, GeneCard:SDC4P, HGNC:HGNC:18903, NCBI Gene:376844, RefSeq DNA:NT_011520, RefSeq RNA:NR_001580 No chr22 30877277 30877743 30481290 30481756 +PA35592 6386 HGNC:10662 ENSG00000137575 syndecan binding protein SDCBP syndecan binding protein (syntenin), syntenin, syntenin-1 MDA-9, SDCBP1, SYCL Yes No Comparative Toxicogenomics Database:6386, Ensembl:ENSG00000137575, GenAtlas:SDCBP, GeneCard:SDCBP, HGNC:HGNC:10662, HumanCyc Gene:HS06365, ModBase:O00560, NCBI Gene:6386, OMIM:602217, RefSeq DNA:NT_008183, RefSeq Protein:NP_001007068, RefSeq Protein:NP_001007069, RefSeq Protein:NP_001007070, RefSeq Protein:NP_001007071, RefSeq Protein:NP_005616, RefSeq RNA:NM_001007067, RefSeq RNA:NM_001007068, RefSeq RNA:NM_001007069, RefSeq RNA:NM_001007070, RefSeq RNA:NM_005625, UCSC Genome Browser:NM_005625, UniProtKB:B2R5Q7, UniProtKB:O00560 No chr8 59465566 59495419 58553169 58582860 +PA38033 27111 HGNC:15756 ENSG00000125775 syndecan binding protein 2 SDCBP2 syndecan binding protein (syntenin) 2, syntenin-2 SITAC18, ST-2 Yes No Comparative Toxicogenomics Database:27111, Ensembl:ENSG00000125775, GenAtlas:SDCBP2, GeneCard:SDCBP2, HGNC:HGNC:15756, HumanCyc Gene:HS04930, ModBase:Q9H190, NCBI Gene:27111, RefSeq DNA:NT_011387, RefSeq Protein:NP_001186713, RefSeq Protein:NP_056500, RefSeq Protein:NP_536737, RefSeq RNA:NM_001199784, RefSeq RNA:NM_015685, RefSeq RNA:NM_080489, UCSC Genome Browser:NM_015685, UniProtKB:Q9H190 No chr20 1290553 1309879 1309909 1329235 +PA35601 10806 HGNC:10671 ENSG00000054282 SHH signaling and ciliogenesis regulator SDCCAG8 SDCCAG8 Bardet-Biedl syndrome 16, Senior-Loken syndrome 7, centrosomal colon cancer autoantigen protein, nephrocystin 10, serologically defined colon cancer antigen 8 BBS16, CCCAP, NPHP10, NY-CO-8, SLSN7 Yes No Ensembl:ENSG00000054282, GenAtlas:SDCCAG8, GeneCard:SDCCAG8, HGNC:HGNC:10671, HumanCyc Gene:HS00669, ModBase:Q86SQ7, NCBI Gene:10806, RefSeq DNA:NT_167186, RefSeq Protein:NP_006633, RefSeq RNA:NM_006642, UCSC Genome Browser:NM_006642, UniProtKB:Q86SQ7 No chr1 243419307 243663393 243255328 243500092 +PA142672506 163859 HGNC:26643 ENSG00000143751 SDE2 telomere maintenance homolog SDE2 SDE2 telomere maintenance homolog (S. pombe) C1orf55, FLJ35382 Yes No Comparative Toxicogenomics Database:163859, Ensembl:ENSG00000143751, GeneCard:C1orf55, HGNC:HGNC:26643, HumanCyc Gene:HS13983, ModBase:Q6IQ49, NCBI Gene:163859, RefSeq DNA:NT_167186, RefSeq Protein:NP_689821, RefSeq RNA:NM_152608, UniProtKB:Q6IQ49 No chr1 226170403 226187099 225982702 225999365 +PA35603 6388 HGNC:10675 ENSG00000132581 stromal cell derived factor 2 SDF2 stromal cell-derived factor 2 Yes No Comparative Toxicogenomics Database:6388, Ensembl:ENSG00000132581, GenAtlas:SDF2, GeneCard:SDF2, HGNC:HGNC:10675, HumanCyc Gene:HS05657, ModBase:Q99470, NCBI Gene:6388, OMIM:602934, RefSeq DNA:NT_010799, RefSeq Protein:NP_008854, RefSeq RNA:NM_006923, UCSC Genome Browser:NM_006923, UniProtKB:Q6IBU4, UniProtKB:Q99470 No chr17 26975374 26989207 28648356 28662189 +PA35604 23753 HGNC:10676 ENSG00000128228 stromal cell derived factor 2 like 1 SDF2L1 PWP1-interacting protein 8, dihydropyrimidinase-like 2, stromal cell-derived factor 2-like 1 AP000553.C22.4, OTTHUMT00000075032 Yes No Comparative Toxicogenomics Database:23753, Ensembl:ENSG00000128228, GenAtlas:SDF2L1, GeneCard:SDF2L1, HGNC:HGNC:10676, HumanCyc Gene:HS05163, ModBase:Q9HCN8, NCBI Gene:23753, OMIM:607551, RefSeq DNA:NT_011520, RefSeq Protein:NP_071327, RefSeq RNA:NM_022044, UCSC Genome Browser:NM_022044, UniProtKB:Q9HCN8 No chr22 21996542 21998588 21642253 21644299 +PA142670940 51150 HGNC:24188 ENSG00000078808 stromal cell derived factor 4 SDF4 calcium binding protein Cab45 Yes No Ensembl:ENSG00000078808, GeneCard:SDF4, HGNC:HGNC:24188, HumanCyc Gene:HS01302, ModBase:Q9BRK5, NCBI Gene:51150, RefSeq DNA:NT_004350, RefSeq Protein:NP_057260, RefSeq Protein:NP_057631, RefSeq RNA:NM_016176, RefSeq RNA:NM_016547, UniProtKB:B1AME6, UniProtKB:Q9BRK5 No chr1 1152288 1167447 1216908 1232067 +PA35605 6389 HGNC:10680 ENSG00000073578 succinate dehydrogenase complex flavoprotein subunit A SDHA """flavoprotein subunit of complex II"", ""succinate dehydrogenase [ubiquinone] flavoprotein subunit"", ""succinate dehydrogenase complex, subunit A, flavoprotein (Fp)""" FP, SDH2, SDHF Yes No Comparative Toxicogenomics Database:6389, Ensembl:ENSG00000073578, GenAtlas:SDHA, GeneCard:SDHA, HGNC:HGNC:10680, HumanCyc Gene:HS01106, ModBase:P31040, NCBI Gene:6389, OMIM:252011, OMIM:256000, OMIM:600857, RefSeq DNA:NG_012339, RefSeq DNA:NT_006576, RefSeq Protein:NP_004159, RefSeq RNA:NM_004168, UCSC Genome Browser:NM_004168, UniProtKB:P31040 No chr5 218338 256815 218223 264816 +PA165394270 644096 HGNC:33867 ENSG00000205138 succinate dehydrogenase complex assembly factor 1 SDHAF1 LYR motif containing 8 LYRM8 Yes No Ensembl:ENSG00000205138, GeneCard:SDHAF1, HGNC:HGNC:33867, NCBI Gene:644096, OMIM:252011, OMIM:612848, RefSeq DNA:NG_016869, RefSeq DNA:NT_011109, RefSeq Protein:NP_001036096, RefSeq RNA:NM_001042631, UniProtKB:A6NFY7 No chr19 36486090 36487220 35995188 35996318 +PA165543618 54949 HGNC:26034 ENSG00000167985, ENSG00000256591 succinate dehydrogenase complex assembly factor 2 SDHAF2 C11orf79, FLJ20487, PGL2, SDH5 Yes No Ensembl:ENSG00000167985, Ensembl:ENSG00000256591, GeneCard:SDHAF2, HGNC:HGNC:26034, HumanCyc Gene:HS15619, ModBase:Q9NX18, NCBI Gene:54949, OMIM:601650, OMIM:613019, RefSeq DNA:NG_023393, RefSeq DNA:NT_033903, RefSeq DNA:NT_033903.7, RefSeq DNA:NT_167190, RefSeq Protein:NP_060311, RefSeq RNA:NM_017841, RefSeq RNA:NM_017841.1, UniProtKB:Q9NX18 No chr11 61197514 61214239 61430125 61446767 +PA134976380 57001 HGNC:21752 ENSG00000196636 succinate dehydrogenase complex assembly factor 3 SDHAF3 ACN9 homolog (S. cerevisiae) ACN9, DC11, LYRM10, Sdh7 Yes No Ensembl:ENSG00000196636, GeneCard:ACN9, HGNC:HGNC:21752, NCBI Gene:57001, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_064571, RefSeq RNA:NM_020186, UniProtKB:Q9NRP4 No chr7 96745905 96811075 97116593 97181763 +PA134932684 135154 HGNC:20957 ENSG00000154079 succinate dehydrogenase complex assembly factor 4 SDHAF4 chromosome 6 open reading frame 57 C6orf57, Sdh8 Yes No Ensembl:ENSG00000154079, GeneCard:C6orf57, HGNC:HGNC:20957, HumanCyc Gene:HS14502, ModBase:Q5VUM1, NCBI Gene:135154, RefSeq DNA:NT_007299, RefSeq Protein:NP_660310, RefSeq RNA:NM_145267, UniProtKB:Q5VUM1 No chr6 71276625 71298606 70566922 70588903 +PA143485609 255812 HGNC:32455 ENSG00000185485 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 SDHAP1 Yes No Ensembl:ENSG00000185485, HGNC:HGNC:32455, NCBI Gene:255812, RefSeq DNA:NT_029928, RefSeq Protein:XP_171032, RefSeq Protein:XP_931540, RefSeq Protein:XP_931551, RefSeq Protein:XP_936151, RefSeq Protein:XP_936389, RefSeq Protein:XP_936406, RefSeq Protein:XP_936414, RefSeq Protein:XP_936417, RefSeq Protein:XP_936424, RefSeq Protein:XP_936431, RefSeq Protein:XP_936437, RefSeq Protein:XP_936443, RefSeq Protein:XP_936449, RefSeq Protein:XP_936457, RefSeq Protein:XP_936463, RefSeq Protein:XP_947743, RefSeq Protein:XP_951276, RefSeq RNA:NR_003264, RefSeq RNA:XM_171032, RefSeq RNA:XM_926447, RefSeq RNA:XM_926458, RefSeq RNA:XM_931058, RefSeq RNA:XM_931296, RefSeq RNA:XM_931313, RefSeq RNA:XM_931321, RefSeq RNA:XM_931324, RefSeq RNA:XM_931331, RefSeq RNA:XM_931338, RefSeq RNA:XM_931344, RefSeq RNA:XM_931350, RefSeq RNA:XM_931356, RefSeq RNA:XM_931364, RefSeq RNA:XM_931370, RefSeq RNA:XM_942650, RefSeq RNA:XM_946183 No chr3 195686792 195717150 195959921 195990279 +PA35606 6390 HGNC:10681 ENSG00000117118 succinate dehydrogenase complex iron sulfur subunit B SDHB """iron-sulfur subunit of complex II"", ""succinate dehydrogenase [ubiquinone] iron-sulfur subunit"", ""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)""" SDH, SDH1 Yes No Comparative Toxicogenomics Database:6390, Ensembl:ENSG00000117118, GenAtlas:SDHB, GeneCard:SDHB, HGNC:HGNC:10681, HumanCyc Gene:HS04095, ModBase:P21912, NCBI Gene:6390, OMIM:115310, OMIM:171300, OMIM:185470, OMIM:606864, OMIM:612359, RefSeq DNA:NG_012340, RefSeq DNA:NT_004610, RefSeq Protein:NP_002991, RefSeq RNA:NM_003000, UCSC Genome Browser:NM_003000, UniProtKB:P21912 No chr1 17345217 17380665 17018722 17054170 +PA35607 6391 HGNC:10682 ENSG00000143252 succinate dehydrogenase complex subunit C SDHC """large subunit of cytochrome b"", ""succinate dehydrgenase cytochrome b"", ""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"", ""succinate dehydrogenase cytochrome b560 subunit""" CYB560, PGL3, cybL Yes No Comparative Toxicogenomics Database:6391, Ensembl:ENSG00000143252, GenAtlas:SDHC, GeneCard:SDHC, HGNC:HGNC:10682, HumanCyc Gene:HS07014, ModBase:Q99643, NCBI Gene:6391, OMIM:602413, OMIM:605373, OMIM:606864, RefSeq DNA:NG_012767, RefSeq DNA:NT_004487, RefSeq Protein:NP_001030588, RefSeq Protein:NP_001030589, RefSeq Protein:NP_001030590, RefSeq Protein:NP_002992, RefSeq RNA:NM_001035511, RefSeq RNA:NM_001035512, RefSeq RNA:NM_001035513, RefSeq RNA:NM_003001, UCSC Genome Browser:NM_003001, UniProtKB:O75609, UniProtKB:Q3C2D8, UniProtKB:Q3C2H4, UniProtKB:Q99643 No chr1 161284166 161334541 161314376 161364751 +PA35608 6392 HGNC:10683 ENSG00000204370 succinate dehydrogenase complex subunit D SDHD """small subunit of cytochrome b"", ""succinate dehydrogenase complex, subunit D, integral membrane protein""" PGL, PGL1, cybS Yes No Comparative Toxicogenomics Database:6392, Ensembl:ENSG00000204370, GenAtlas:SDHD, GeneCard:SDHD, HGNC:HGNC:10683, HumanCyc Gene:HS07690, ModBase:O14521, NCBI Gene:6392, OMIM:114900, OMIM:168000, OMIM:171300, OMIM:602690, OMIM:606864, OMIM:612359, RefSeq DNA:NG_012337, RefSeq DNA:NT_033899, RefSeq Protein:NP_002993, RefSeq RNA:NM_003002, UCSC Genome Browser:NM_003002, UniProtKB:O14521 No chr11 111957548 111966525 112086824 112095801 +PA35609 100289186 HGNC:10684 ENSG00000267162 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 1 SDHDP1 Yes No Ensembl:ENSG00000267162, GenAtlas:SDHDP1, GeneCard:SDHDP1, HGNC:HGNC:10684, NCBI Gene:100289186 No chr18 12101993 12102470 12101802 12102512 +PA35610 647081 HGNC:10685 ENSG00000227073 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 2 SDHDP2 Yes No Ensembl:ENSG00000227073, GenAtlas:SDHDP2, GeneCard:SDHDP2, HGNC:HGNC:10685, NCBI Gene:647081 No chr7 135129188 135130488 135444440 135445740 +PA35611 29771 HGNC:10686 ENSG00000244381 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 3 SDHDP3 Yes No Ensembl:ENSG00000244381, GenAtlas:SDHDP3, GeneCard:SDHDP3, HGNC:HGNC:10686, NCBI Gene:29771, RefSeq DNA:NG_005647, RefSeq DNA:NT_005612 No chr3 169427060 169428366 169709272 169710578 +PA35612 29770 HGNC:10687 ENSG00000236930 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 4 SDHDP4 Yes No Ensembl:ENSG00000236930, GenAtlas:SDHDP4, GeneCard:SDHDP4, HGNC:HGNC:10687, NCBI Gene:29770, RefSeq DNA:NG_005646, RefSeq DNA:NT_022517 No chr3 45924319 45925617 45882827 45884125 +PA35613 29769 HGNC:10688 ENSG00000229744 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 5 SDHDP5 Yes No Ensembl:ENSG00000229744, GenAtlas:SDHDP5, GeneCard:SDHDP5, HGNC:HGNC:10688, NCBI Gene:29769 No chr2 178882773 178883983 178017982 178018625 +PA35614 29768 HGNC:10689 ENSG00000224183 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 6 SDHDP6 Yes No Ensembl:ENSG00000224183, GenAtlas:SDHDP6, GeneCard:SDHDP6, HGNC:HGNC:10689, NCBI Gene:29768, RefSeq DNA:NG_003255, RefSeq DNA:NT_004610 No chr1 25619849 25621160 25293358 25294669 +PA134959203 388606 HGNC:31410 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 7 SDHDP7 Yes No GeneCard:SDHDP7, HGNC:HGNC:31410, NCBI Gene:388606, RefSeq DNA:NG_003255, RefSeq DNA:NT_004610 No chr1 25725186 25726493 25398695 25400004 +PA166049035 100505705 HGNC:38749 stress responsive DNAJB4 interacting membrane protein 1 SDIM1 Yes No HGNC:HGNC:38749, NCBI Gene:100505705 No chr6 +PA134957188 221935 HGNC:19307 ENSG00000146555 sidekick cell adhesion molecule 1 SDK1 FLJ31425 Yes Yes Ensembl:ENSG00000146555, GeneCard:SDK1, HGNC:HGNC:19307, HumanCyc Gene:HS14161, ModBase:Q7Z5N4, NCBI Gene:221935, OMIM:607216, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001073121, RefSeq Protein:NP_689957, RefSeq RNA:NM_001079653, RefSeq RNA:NM_152744, RefSeq RNA:NR_027816, UniProtKB:Q7Z5N4 No chr7 3341080 4308632 3301448 4269000 +PA134981456 54549 HGNC:19308 ENSG00000069188 sidekick cell adhesion molecule 2 SDK2 FLJ10832, KIAA1514 Yes No Ensembl:ENSG00000069188, GeneCard:SDK2, HGNC:HGNC:19308, HumanCyc Gene:HS12201, ModBase:Q58EX2, NCBI Gene:54549, OMIM:607217, RefSeq DNA:NT_010783, RefSeq Protein:NP_001138424, RefSeq RNA:NM_001144952, UniProtKB:Q58EX2 No chr17 71330523 71640227 73334384 73644482 +PA164725585 195814 HGNC:30311 ENSG00000170786 short chain dehydrogenase/reductase family 16C member 5 SDR16C5 """Epidermal retinol dehydrogenase 2"", ""short chain dehydrogenase/reductase family 16C, member 5""" EPHD-2, RDH-E2, RDHE2 Yes No Ensembl:ENSG00000170786, GeneCard:SDR16C5, HGNC:HGNC:30311, HumanCyc Gene:HS10180, NCBI Gene:195814, OMIM:608989, RefSeq DNA:NT_008183, RefSeq Protein:NP_620419, RefSeq RNA:NM_138969, UniProtKB:B3KT84, UniProtKB:Q8N3Y7 No chr8 57212570 57233335 56299648 56320776 +PA164725604 442388 HGNC:35413 ENSG00000253542 short chain dehydrogenase/reductase family 16C, member 6, pseudogene SDR16C6P Yes No Ensembl:ENSG00000253542, GeneCard:SDR16C6P, HGNC:HGNC:35413, NCBI Gene:442388, RefSeq DNA:NT_008183, RefSeq Protein:NP_001138723, RefSeq RNA:NM_001145251, RefSeq RNA:XR_108906 No chr8 57287277 57303269 56374718 56390710 +PA164725619 56948 HGNC:20275 ENSG00000100445 short chain dehydrogenase/reductase family 39U member 1 SDR39U1 short chain dehydrogenase/reductase family 39U, member 1 C14orf124, HCDI Yes No Ensembl:ENSG00000100445, GeneCard:SDR39U1, HGNC:HGNC:20275, HumanCyc Gene:HS12412, NCBI Gene:56948, RefSeq DNA:NT_026437, RefSeq Protein:NP_064580, RefSeq RNA:NM_020195, UniProtKB:Q86TZ5, UniProtKB:Q9NRG7 No chr14 24908972 24912042 24439766 24442905 +PA164725636 93517 HGNC:29834 ENSG00000184860 short chain dehydrogenase/reductase family 42E, member 1 SDR42E1 HSPC105 Yes No Ensembl:ENSG00000184860, GeneCard:SDR42E1, HGNC:HGNC:29834, NCBI Gene:93517, RefSeq DNA:NT_010498, RefSeq Protein:NP_660151, RefSeq RNA:NM_145168, UniProtKB:Q8WUS8 No chr16 82031251 82045093 81988855 82011488 +PA164725647 100288072 HGNC:35414 ENSG00000183921 short chain dehydrogenase/reductase family 42E, member 2 SDR42E2 Yes No Ensembl:ENSG00000183921, HGNC:HGNC:35414, NCBI Gene:100288072 No chr16 +PA164725648 121214 HGNC:29958 ENSG00000170426 short chain dehydrogenase/reductase family 9C member 7 SDR9C7 short chain dehydrogenase/reductase family 9C, member 7 RDHS, SDR-O Yes No Ensembl:ENSG00000170426, GeneCard:SDR9C7, HGNC:HGNC:29958, HumanCyc Gene:HS10125, NCBI Gene:121214, OMIM:609769, RefSeq DNA:NT_029419, RefSeq Protein:NP_683695, RefSeq RNA:NM_148897, UniProtKB:Q8NEX9 No chr12 57316938 57328189 56923154 56934405 +PA35616 10993 HGNC:10691 ENSG00000135094 serine dehydratase SDS L-serine ammonia-lyase SDH Yes No Comparative Toxicogenomics Database:10993, Ensembl:ENSG00000135094, GenAtlas:SDS, GeneCard:SDS, HGNC:HGNC:10691, HumanCyc Gene:HS05952, ModBase:P20132, NCBI Gene:10993, OMIM:182128, RefSeq DNA:NT_009775, RefSeq Protein:NP_006834, RefSeq RNA:NM_006843, UCSC Genome Browser:NM_006843, UniProtKB:P20132, UniProtKB:Q8WW81 No chr12 113830250 113841692 113392445 113403887 +PA134862016 113675 HGNC:30404 ENSG00000139410 serine dehydratase like SDSL serine dehydratase-like SDS-RS1, cSDH Yes No Comparative Toxicogenomics Database:113675, Ensembl:ENSG00000139410, GeneCard:SDSL, HGNC:HGNC:30404, HumanCyc Gene:HS06616, ModBase:Q96GA7, NCBI Gene:113675, RefSeq DNA:NT_009775, RefSeq Protein:NP_612441, RefSeq RNA:NM_138432, UniProtKB:Q96GA7 No chr12 113860042 113876081 113422265 113438277 +PA162402574 645832 HGNC:32942 ENSG00000274529 SEBOX homeobox SEBOX OG9, OG9X Yes No Ensembl:ENSG00000274529, GeneCard:SEBOX, HGNC:HGNC:32942, ModBase:Q9HB31, NCBI Gene:645832, OMIM:610975, RefSeq DNA:NT_010799, RefSeq Protein:NP_001074306, RefSeq Protein:NP_001077365, RefSeq RNA:NM_001080837, RefSeq RNA:NM_001083896, UniProtKB:C9JDG5, UniProtKB:C9JHA5 No chr17 26691290 26692265 28364268 28365151 +PA162402586 23478 HGNC:17718 ENSG00000140612 SEC11 homolog A, signal peptidase complex subunit SEC11A SEC11 homolog A (S. cerevisiae), signal peptidase complex 18 SEC11L1, SPC18, SPCS4A, sid2895 Yes No Ensembl:ENSG00000140612, GeneCard:SEC11A, HGNC:HGNC:17718, HumanCyc Gene:HS06745, ModBase:P67812, NCBI Gene:23478, RefSeq DNA:NT_010274, RefSeq Protein:NP_055115, RefSeq RNA:NM_014300, UniProtKB:P67812 No chr15 85212768 85259691 84669537 84716460 +PA134871731 157708 HGNC:31884 ENSG00000226098 SEC11 homolog B (S. cerevisiae) SEC11B SPCS4B Yes No Ensembl:ENSG00000226098, HGNC:HGNC:31884, NCBI Gene:157708, RefSeq DNA:NT_008183, RefSeq Protein:XP_088367, RefSeq RNA:XM_088367 No chr8 55435050 55435941 54522490 54523381 +PA162402587 90701 HGNC:23400 ENSG00000166562 SEC11 homolog C, signal peptidase complex subunit SEC11C SEC11 homolog C (S. cerevisiae), signal peptidase complex 21 SEC11L3, SPC21, SPCS4C Yes No Ensembl:ENSG00000166562, GeneCard:SEC11C, HGNC:HGNC:23400, HumanCyc Gene:HS09422, ModBase:Q9BY50, NCBI Gene:90701, RefSeq DNA:NT_025028, RefSeq Protein:NP_150596, RefSeq RNA:NM_033280, UniProtKB:Q9BY50 No chr18 56806709 56826069 59139857 59158837 +PA35620 6396 HGNC:10697 ENSG00000157020 SEC13 homolog, nuclear pore and COPII coat complex component SEC13 SEC13 homolog (S. cerevisiae) D3S1231E, SEC13L1, SEC13R, npp-20 Yes No Comparative Toxicogenomics Database:6396, Ensembl:ENSG00000157020, GenAtlas:SEC13L1, GeneCard:SEC13, GeneCard:SEC13L1, HGNC:HGNC:10697, HumanCyc Gene:HS08170, NCBI Gene:6396, OMIM:600152, RefSeq DNA:NT_022517, RefSeq Protein:NP_001129704, RefSeq Protein:NP_109598, RefSeq Protein:NP_899195, RefSeq RNA:NM_001136232, RefSeq RNA:NM_030673, RefSeq RNA:NM_183352, RefSeq RNA:NR_024272, RefSeq RNA:NR_024273, UCSC Genome Browser:NM_030673, UniProtKB:A8MV37, UniProtKB:P55735 No chr3 10342613 10362872 10300929 10321188 +PA35621 6397 HGNC:10698 ENSG00000129657 SEC14 like lipid binding 1 SEC14L1 SEC14-like 1 (S. cerevisiae) PRELID4A, SEC14L Yes No Comparative Toxicogenomics Database:6397, Ensembl:ENSG00000129657, GenAtlas:SEC14L1, GeneCard:SEC14L1, HGNC:HGNC:10698, HumanCyc Gene:HS05302, ModBase:Q92503, NCBI Gene:6397, OMIM:601504, RefSeq DNA:NT_010783, RefSeq Protein:NP_001034662, RefSeq Protein:NP_001137470, RefSeq Protein:NP_001137471, RefSeq Protein:NP_001137473, RefSeq Protein:NP_001191337, RefSeq Protein:NP_001191339, RefSeq Protein:NP_002994, RefSeq RNA:NM_001039573, RefSeq RNA:NM_001143998, RefSeq RNA:NM_001143999, RefSeq RNA:NM_001144001, RefSeq RNA:NM_001204408, RefSeq RNA:NM_001204410, RefSeq RNA:NM_003003, UCSC Genome Browser:NM_003003, UniProtKB:A5PLM6, UniProtKB:A8K4E8, UniProtKB:B4DDI5, UniProtKB:Q59HE8, UniProtKB:Q7Z3R7, UniProtKB:Q92503 No chr17 75084725 75213183 77088643 77217101 +PA35622 23541 HGNC:10699 ENSG00000100003 SEC14 like lipid binding 2 SEC14L2 SEC14-like 2 (S. cerevisiae), supernatant protein factor, tocopherol-associated protein 1 C22orf6, KIAA1186, KIAA1658, SPF, TAP, TAP1 Yes No Comparative Toxicogenomics Database:23541, Ensembl:ENSG00000100003, GenAtlas:SEC14L2, GeneCard:SEC14L2, HGNC:HGNC:10699, HumanCyc Gene:HS01950, ModBase:O76054, NCBI Gene:23541, OMIM:607558, RefSeq DNA:NT_011520, RefSeq Protein:NP_001191133, RefSeq Protein:NP_036561, RefSeq Protein:NP_203740, RefSeq RNA:NM_001204204, RefSeq RNA:NM_012429, RefSeq RNA:NM_033382, UCSC Genome Browser:NM_012429, UniProtKB:O76054, UniProtKB:Q6PD61 No chr22 30792930 30821291 30396941 30425303 +PA134960743 266629 HGNC:18655 ENSG00000100012 SEC14 like lipid binding 3 SEC14L3 SEC14-like 3 (S. cerevisiae), tocopherol-associated protein 2 TAP2 Yes No Comparative Toxicogenomics Database:266629, Ensembl:ENSG00000100012, GeneCard:SEC14L3, HGNC:HGNC:18655, HumanCyc Gene:HS01951, ModBase:Q9UDX4, NCBI Gene:266629, OMIM:612824, RefSeq DNA:NT_011520, RefSeq Protein:NP_777635, RefSeq RNA:NM_174975, UniProtKB:Q6XCI7, UniProtKB:Q9UDX4 No chr22 30843946 30868034 30447959 30472047 +PA134979694 284904 HGNC:20627 ENSG00000133488 SEC14 like lipid binding 4 SEC14L4 SEC14-like 4 (S. cerevisiae), tocopherol-associated protein 3 TAP3, dJ130H16.5 Yes No Comparative Toxicogenomics Database:284904, Ensembl:ENSG00000133488, GeneCard:SEC14L4, HGNC:HGNC:20627, ModBase:Q9UDX3, NCBI Gene:284904, OMIM:612825, RefSeq DNA:NT_011520, RefSeq Protein:NP_001154840, RefSeq Protein:NP_777637, RefSeq RNA:NM_001161368, RefSeq RNA:NM_174977, UniProtKB:A5D6W7, UniProtKB:B2RMR2, UniProtKB:Q9UDX3 No chr22 30884877 30901698 30488150 30505711 +PA142670939 9717 HGNC:29032 ENSG00000103184 SEC14 like lipid binding 5 SEC14L5 SEC14-like 5 (S. cerevisiae) KIAA0420, PRELID4B Yes No Ensembl:ENSG00000103184, GeneCard:SEC14L5, HGNC:HGNC:29032, ModBase:O43304, NCBI Gene:9717, RefSeq DNA:NT_010393, RefSeq Protein:NP_055507, RefSeq RNA:NM_014692, UniProtKB:O43304 No chr16 5008318 5069156 4958317 5019155 +PA166049065 730005 HGNC:40047 ENSG00000214491 SEC14 like lipid binding 6 SEC14L6 SEC14-like 6 (S. cerevisiae) Yes No Ensembl:ENSG00000214491, HGNC:HGNC:40047, NCBI Gene:730005 No chr22 30920629 30942669 30522797 30546717 +PA162402611 9919 HGNC:29006 ENSG00000148396 SEC16 homolog A, endoplasmic reticulum export factor SEC16A SEC16 homolog A (S. cerevisiae) KIAA0310, Sec16L, p250 Yes No Ensembl:ENSG00000148396, GeneCard:SEC16A, HGNC:HGNC:29006, NCBI Gene:9919, OMIM:612854, RefSeq DNA:NT_024000, RefSeq Protein:NP_055681, RefSeq RNA:NM_014866, UniProtKB:O15027 No chr9 139334548 139379297 136440096 136484552 +PA162402680 89866 HGNC:30301 ENSG00000120341 SEC16 homolog B, endoplasmic reticulum export factor SEC16B SEC16 homolog B (S. cerevisiae), regucalcin gene promotor region related protein LZTR2, PGPR-p117, RGPR, Sec16S Yes No Ensembl:ENSG00000120341, GeneCard:SEC16B, HGNC:HGNC:30301, HumanCyc Gene:HS12987, ModBase:Q96JE7, NCBI Gene:89866, OMIM:612855, RefSeq DNA:NT_004487, RefSeq Protein:NP_149118, RefSeq RNA:NM_033127, UniProtKB:Q96JE7 No chr1 177892825 177939188 177929107 177969915 +PA134921956 26984 HGNC:20260 ENSG00000121542 SEC22 homolog A, vesicle trafficking protein SEC22A SEC22 vesicle trafficking protein homolog A (S. cerevisiae) SEC22L2 Yes No Comparative Toxicogenomics Database:26984, Ensembl:ENSG00000121542, GeneCard:SEC22A, HGNC:HGNC:20260, HumanCyc Gene:HS04501, ModBase:Q96IW7, NCBI Gene:26984, OMIM:612442, RefSeq DNA:NT_005612, RefSeq Protein:NP_036562, RefSeq RNA:NM_012430, UniProtKB:Q96IW7 No chr3 122920774 122992983 123201927 123274136 +PA35623 9554 HGNC:10700 ENSG00000265808 SEC22 homolog B, vesicle trafficking protein SEC22B """SEC22 homolog B, vesicle trafficking protein (gene/pseudogene)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)""" ERS-24, SEC22L1, sec22b Yes No Comparative Toxicogenomics Database:9554, Ensembl:ENSG00000265808, GenAtlas:SEC22B, GeneCard:SEC22B, HGNC:HGNC:10700, ModBase:O75396, NCBI Gene:9554, OMIM:604029, RefSeq DNA:NT_167185, RefSeq Protein:NP_004883, RefSeq RNA:NM_004892, UCSC Genome Browser:NM_004892, UniProtKB:O75396 No chr1 227516 248095 120152520 120176534 +PA134952972 9117 HGNC:16828 ENSG00000093183 SEC22 homolog C, vesicle trafficking protein SEC22C SEC22 vesicle trafficking protein homolog C (S. cerevisiae) MGC13261, MGC5373, SEC22L3 Yes No Ensembl:ENSG00000093183, GeneCard:SEC22C, HGNC:HGNC:16828, HumanCyc Gene:HS01796, ModBase:Q9BRL7, NCBI Gene:9117, OMIM:604028, RefSeq DNA:NT_022517, RefSeq Protein:NP_001188501, RefSeq Protein:NP_001188513, RefSeq Protein:NP_004197, RefSeq Protein:NP_116752, RefSeq RNA:NM_001201572, RefSeq RNA:NM_001201584, RefSeq RNA:NM_004206, RefSeq RNA:NM_032970, UniProtKB:Q9BRL7 No chr3 42589459 42642572 42547967 42601080 +PA35624 10484 HGNC:10701 ENSG00000100934 SEC23 homolog A, COPII coat complex component SEC23A """Sec23 homolog A (S. cerevisiae)"", ""Sec23 homolog A, coat complex II component""" Yes No Comparative Toxicogenomics Database:10484, Ensembl:ENSG00000100934, GenAtlas:SEC23A, GeneCard:SEC23A, HGNC:HGNC:10701, HumanCyc Gene:HS02168, ModBase:Q15436, NCBI Gene:10484, OMIM:607812, OMIM:610511, RefSeq DNA:NG_012157, RefSeq DNA:NT_026437, RefSeq Protein:NP_006355, RefSeq RNA:NM_006364, UCSC Genome Browser:NM_006364, UniProtKB:B3KXI2, UniProtKB:Q15436 No chr14 39501123 39572447 39031919 39103528 +PA35625 10483 HGNC:10702 ENSG00000101310 SEC23 homolog B, COPII coat complex component SEC23B """Sec23 homolog B (S. cerevisiae)"", ""Sec23 homolog B, coat complex II component""" CDA-II, CDAII, CDAN2, HEMPAS Yes No Comparative Toxicogenomics Database:10483, Ensembl:ENSG00000101310, GenAtlas:SEC23B, GeneCard:SEC23B, HGNC:HGNC:10702, HumanCyc Gene:HS02238, ModBase:Q15437, NCBI Gene:10483, OMIM:224100, OMIM:610512, RefSeq DNA:NG_016281, RefSeq DNA:NT_011387, RefSeq Protein:NP_001166216, RefSeq Protein:NP_001166217, RefSeq Protein:NP_006354, RefSeq Protein:NP_116780, RefSeq Protein:NP_116781, RefSeq RNA:NM_001172745, RefSeq RNA:NM_001172746, RefSeq RNA:NM_006363, RefSeq RNA:NM_032985, RefSeq RNA:NM_032986, UCSC Genome Browser:NM_006363, UniProtKB:B4DJW8, UniProtKB:Q15437 No chr20 18488188 18542059 18507544 18561415 +PA134964657 11196 HGNC:17018 ENSG00000107651 SEC23 interacting protein SEC23IP intracellular phospholipase A1 beta iPLA1beta, iPLA1β, p125, p125A Yes No Comparative Toxicogenomics Database:11196, Ensembl:ENSG00000107651, GeneCard:SEC23IP, HGNC:HGNC:17018, HumanCyc Gene:HS03016, ModBase:Q9Y6Y8, NCBI Gene:11196, RefSeq DNA:NT_030059, RefSeq Protein:NP_009121, RefSeq RNA:NM_007190, RefSeq RNA:NR_037771, UniProtKB:B3KM47, UniProtKB:Q9Y6Y8 No chr10 121652085 121704170 119892573 119944658 +PA35626 10802 HGNC:10703 ENSG00000113615 SEC24 homolog A, COPII coat complex component SEC24A """SEC24 family member A"", ""SEC24 family, member A (S. cerevisiae)""" Yes No Ensembl:ENSG00000113615, GenAtlas:SEC24A, GeneCard:SEC24A, HGNC:HGNC:10703, HumanCyc Gene:HS03702, ModBase:O95486, NCBI Gene:10802, OMIM:607183, RefSeq DNA:NT_034772, RefSeq Protein:NP_068817, RefSeq RNA:NM_021982, UniProtKB:O95486 No chr5 133984472 134063601 134648402 134727911 +PA35627 10427 HGNC:10704 ENSG00000138802 SEC24 homolog B, COPII coat complex component SEC24B """SEC24 family member B"", ""SEC24 family, member B (S. cerevisiae)""" Yes No Ensembl:ENSG00000138802, GenAtlas:SEC24B, GeneCard:SEC24B, HGNC:HGNC:10704, HumanCyc Gene:HS06567, ModBase:O95487, NCBI Gene:10427, OMIM:607184, RefSeq DNA:NT_016354, RefSeq Protein:NP_001036199, RefSeq Protein:NP_006314, RefSeq RNA:NM_001042734, RefSeq RNA:NM_006323, UCSC Genome Browser:NM_006323, UniProtKB:O95487 No chr4 110354969 110461615 109433715 109540459 +PA35628 9632 HGNC:10705 ENSG00000176986 SEC24 homolog C, COPII coat complex component SEC24C """SEC24 family member C"", ""SEC24 family, member C (S. cerevisiae)""" KIAA0079 Yes No Comparative Toxicogenomics Database:9632, Ensembl:ENSG00000176986, GenAtlas:SEC24C, GeneCard:SEC24C, HGNC:HGNC:10705, HumanCyc Gene:HS07537, ModBase:P53992, NCBI Gene:9632, OMIM:607185, RefSeq DNA:NT_030059, RefSeq Protein:NP_004913, RefSeq Protein:NP_940999, RefSeq RNA:NM_004922, RefSeq RNA:NM_198597, UCSC Genome Browser:NM_004922, UniProtKB:P53992 No chr10 75504039 75531933 73744164 73772175 +PA35629 9871 HGNC:10706 ENSG00000150961 SEC24 homolog D, COPII coat complex component SEC24D """SEC24 family member D"", ""SEC24 family, member D (S. cerevisiae)""" KIAA0755 Yes No Comparative Toxicogenomics Database:9871, Ensembl:ENSG00000150961, GenAtlas:SEC24D, GeneCard:SEC24D, HGNC:HGNC:10706, HumanCyc Gene:HS07696, ModBase:O94855, NCBI Gene:9871, OMIM:607186, RefSeq DNA:NT_016354, RefSeq Protein:NP_055637, RefSeq RNA:NM_014822, UCSC Genome Browser:NM_014822, UniProtKB:A8K6V0, UniProtKB:O94855 No chr4 119643978 119759838 118722823 118838683 +PA162402737 22872 HGNC:17052 ENSG00000138674 SEC31 homolog A, COPII coat complex component SEC31A SEC31 homolog A (S. cerevisiae) ABP125, ABP130, KIAA0905, SEC31L1 Yes No Ensembl:ENSG00000138674, GeneCard:SEC31A, HGNC:HGNC:17052, HumanCyc Gene:HS06532, ModBase:Q8IZH4, NCBI Gene:22872, OMIM:610257, RefSeq DNA:NT_016354, RefSeq Protein:NP_001070674, RefSeq Protein:NP_001070675, RefSeq Protein:NP_001070676, RefSeq Protein:NP_001177978, RefSeq Protein:NP_055748, RefSeq Protein:NP_057295, RefSeq RNA:NM_001077206, RefSeq RNA:NM_001077207, RefSeq RNA:NM_001077208, RefSeq RNA:NM_001191049, RefSeq RNA:NM_014933, RefSeq RNA:NM_016211, UniProtKB:O94979 No chr4 83739814 83812419 82818509 82900571 +PA162402792 25956 HGNC:23197 ENSG00000075826 SEC31 homolog B, COPII coat complex component SEC31B SEC31 homolog B (S. cerevisiae) DKFZP434M183, SEC31B-1, SEC31L2 Yes No Ensembl:ENSG00000075826, GeneCard:SEC31B, HGNC:HGNC:23197, HumanCyc Gene:HS12242, ModBase:Q9NQW1, NCBI Gene:25956, OMIM:610258, RefSeq DNA:NT_030059, RefSeq Protein:NP_056305, RefSeq RNA:NM_015490, UniProtKB:Q9NQW1 No chr10 102246397 102279711 100486646 100519838 +PA134901772 29927 HGNC:18276 ENSG00000058262 SEC61 translocon subunit alpha 1 SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae), Sec61 translocon alpha 1 subunit Yes No Comparative Toxicogenomics Database:29927, Ensembl:ENSG00000058262, GeneCard:SEC61A1, HGNC:HGNC:18276, HumanCyc Gene:HS00719, ModBase:Q9Y2R3, NCBI Gene:29927, OMIM:609213, RefSeq DNA:NT_005612, RefSeq Protein:NP_037468, RefSeq RNA:NM_013336, UniProtKB:B3KME8, UniProtKB:B3KNF6, UniProtKB:P61619 No chr3 127770402 127790526 128052369 128071683 +PA134861382 55176 HGNC:17702 ENSG00000065665 SEC61 translocon subunit alpha 2 SEC61A2 Sec61 alpha 2 subunit (S. cerevisiae), Sec61 translocon alpha 2 subunit FLJ10578 Yes No Ensembl:ENSG00000065665, GeneCard:SEC61A2, HGNC:HGNC:17702, HumanCyc Gene:HS00852, ModBase:Q9H9S3, NCBI Gene:55176, RefSeq DNA:NT_008705, RefSeq Protein:NP_001136099, RefSeq Protein:NP_001136100, RefSeq Protein:NP_060614, RefSeq RNA:NM_001142627, RefSeq RNA:NM_001142628, RefSeq RNA:NM_018144, RefSeq RNA:NR_024576, RefSeq RNA:NR_024577, UniProtKB:B3KQ68, UniProtKB:B4DX72, UniProtKB:Q8TC24, UniProtKB:Q9H9S3 No chr10 12171640 12211957 12129641 12169958 +PA134888963 10952 HGNC:16993 ENSG00000106803 SEC61 translocon subunit beta SEC61B Sec61 beta subunit, Sec61 translocon beta subunit Yes No Comparative Toxicogenomics Database:10952, Ensembl:ENSG00000106803, GeneCard:SEC61B, HGNC:HGNC:16993, NCBI Gene:10952, OMIM:609214, RefSeq DNA:NT_008470, RefSeq Protein:NP_006799, RefSeq RNA:NM_006808, UniProtKB:P60468 No chr9 101984570 101992901 99222288 99230619 +PA134939045 23480 HGNC:18277 ENSG00000132432 SEC61 translocon subunit gamma SEC61G Sec61 gamma subunit, Sec61 translocon gamma subunit SSS1 Yes No Comparative Toxicogenomics Database:23480, Ensembl:ENSG00000132432, GeneCard:SEC61G, HGNC:HGNC:18277, HumanCyc Gene:HS05633, ModBase:P60059, NCBI Gene:23480, OMIM:609215, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_001012474, RefSeq Protein:NP_055117, RefSeq RNA:NM_001012456, RefSeq RNA:NM_014302, UniProtKB:P60059 No chr7 54819940 54826939 54752247 54759246 +PA162402849 7095 HGNC:11846 ENSG00000008952 SEC62 homolog, preprotein translocation factor SEC62 SEC62 homolog (S. cerevisiae) Dtrp1, HTP1, TLOC1 Yes No Ensembl:ENSG00000008952, GeneCard:SEC62, HGNC:HGNC:11846, HumanCyc Gene:HS00258, ModBase:Q99442, NCBI Gene:7095, OMIM:602173, RefSeq DNA:NT_005612, RefSeq Protein:NP_003253, RefSeq RNA:NM_003262, UniProtKB:Q99442 No chr3 169684580 169716161 169966792 169998373 +PA134936990 11231 HGNC:21082 ENSG00000025796 SEC63 homolog, protein translocation regulator SEC63 SEC63 homolog (S. cerevisiae) DNAJC23, ERdj2, PRO2507, SEC63L Yes No Comparative Toxicogenomics Database:11231, Ensembl:ENSG00000025796, GeneCard:SEC63, HGNC:HGNC:21082, HumanCyc Gene:HS00444, ModBase:Q9UGP8, NCBI Gene:11231, OMIM:174050, OMIM:608648, RefSeq DNA:NG_008270, RefSeq DNA:NT_025741, RefSeq Protein:NP_009145, RefSeq RNA:NM_007214, UniProtKB:Q9UGP8 No chr6 108188960 108279482 107867756 107958278 +PA134863749 79048 HGNC:30972 ENSG00000187742 SECIS binding protein 2 SECISBP2 Sec insertion sequence-binding protein 2, Selenocysteine insertion sequence-binding protein 2 SBP2 Yes No Comparative Toxicogenomics Database:79048, Ensembl:ENSG00000187742, GeneCard:SECISBP2, HGNC:HGNC:30972, ModBase:Q96T21, NCBI Gene:79048, OMIM:607693, OMIM:609698, RefSeq DNA:NG_012177, RefSeq DNA:NT_008470, RefSeq Protein:NP_076982, RefSeq RNA:NM_024077, UniProtKB:Q96T21 No chr9 91933394 91974561 89318473 89367117 +PA164725649 9728 HGNC:28997 ENSG00000138593 SECIS binding protein 2 like SECISBP2L SECIS binding protein 2-like KIAA0256 Yes No Ensembl:ENSG00000138593, GeneCard:SECISBP2L, HGNC:HGNC:28997, NCBI Gene:9728, RefSeq DNA:NT_010194, RefSeq Protein:NP_001180418, RefSeq Protein:NP_055516, RefSeq RNA:NM_001193489, RefSeq RNA:NM_014701, UniProtKB:Q93073 No chr15 49280835 49338760 48988638 49046563 +PA35630 6398 HGNC:10707 ENSG00000141574 secreted and transmembrane 1 SECTM1 K12 protein, type 1a transmembrane protein K12 Yes No Comparative Toxicogenomics Database:6398, Ensembl:ENSG00000141574, GenAtlas:SECTM1, GeneCard:SECTM1, HGNC:HGNC:10707, HumanCyc Gene:HS06854, ModBase:Q8WVN6, NCBI Gene:6398, OMIM:602602, RefSeq DNA:NT_010663, RefSeq Protein:NP_002995, RefSeq RNA:NM_003004, UCSC Genome Browser:NM_003004, UniProtKB:Q8WVN6 No chr17 80278900 80291921 82321024 82334045 +PA134912135 81929 HGNC:30379 ENSG00000085415 SEH1 like nucleoporin SEH1L SEH1-like (S. cerevisiae), nucleoporin Seh1, sec13 like protein SEC13L, SEH1A, SEH1B, Seh1 Yes No Comparative Toxicogenomics Database:81929, Ensembl:ENSG00000085415, GeneCard:SEH1L, HGNC:HGNC:30379, HumanCyc Gene:HS01494, ModBase:Q96EE3, NCBI Gene:81929, OMIM:609263, RefSeq DNA:NT_010859, RefSeq Protein:NP_001013455, RefSeq Protein:NP_112493, RefSeq RNA:NM_001013437, RefSeq RNA:NM_031216, UniProtKB:Q96EE3 No chr18 12947983 12987536 12947984 12987665 +PA35639 6400 HGNC:10717 ENSG00000071537 SEL1L adaptor subunit of SYVN1 ubiquitin ligase SEL1L """SEL1L adaptor subunit of ERAD E3 ubiquitin ligase"", ""SEL1L, ERAD E3 ligase adaptor subunit"", ""sel-1 suppressor of lin-12-like (C. elegans)"", ""sel-1 suppressor of lin-12-like 1 (C. elegans)""" Hrd3, IBD2, SEL1L1 Yes No Comparative Toxicogenomics Database:6400, Ensembl:ENSG00000071537, GenAtlas:SEL1L, GeneCard:SEL1L, HGNC:HGNC:10717, HumanCyc Gene:HS01032, ModBase:Q9UBV2, NCBI Gene:6400, OMIM:602329, RefSeq DNA:NT_026437, RefSeq Protein:NP_005056, RefSeq RNA:NM_005065, UCSC Genome Browser:NM_005065, UniProtKB:Q3ZCU6, UniProtKB:Q9UBV2 No chr14 81937891 82000205 81471547 81533864 +PA162402870 80343 HGNC:15897 ENSG00000101251 SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase SEL1L2 """SEL1L2 adaptor subunit of ERAD E3 ligase"", ""SEL1L2, ERAD E3 ligase adaptor subunit"", ""sel-1 suppressor of lin-12-like 2 (C. elegans)""" C20orf50, DKFZp434C1826 Yes No Ensembl:ENSG00000101251, GeneCard:SEL1L2, HGNC:HGNC:15897, HumanCyc Gene:HS12449, ModBase:Q5TEA6, NCBI Gene:80343, RefSeq DNA:NT_011387, RefSeq Protein:NP_079505, RefSeq RNA:NM_025229, UniProtKB:Q5TEA6 No chr20 13829635 13975979 13849188 13995333 +PA165664479 23231 HGNC:29108 ENSG00000091490 SEL1L family member 3 SEL1L3 KIAA0746 protein, sel-1 suppressor of lin-12-like 3 (C. elegans) KIAA0746 Yes No Ensembl:ENSG00000091490, GeneCard:SEL1L3, HGNC:HGNC:29108, NCBI Gene:23231, RefSeq DNA:NT_006316, RefSeq Protein:NP_056002, RefSeq RNA:NM_015187, UniProtKB:Q68CR1 No chr4 25749049 25864647 25697790 25863595 +PA35640 6401 HGNC:10718 ENSG00000007908 selectin E SELE CD62E, ELAM, ELAM1, ESEL Yes Yes Comparative Toxicogenomics Database:6401, Ensembl:ENSG00000007908, GenAtlas:SELE, GeneCard:SELE, HGNC:HGNC:10718, HumanCyc Gene:HS00222, ModBase:P16581, NCBI Gene:6401, OMIM:131210, OMIM:145500, OMIM:161950, RefSeq DNA:NG_012124, RefSeq DNA:NT_004487, RefSeq Protein:NP_000441, RefSeq RNA:NM_000450, UCSC Genome Browser:NM_000450, UniProtKB:P16581 No chr1 169691781 169703220 169722640 169734079 +PA35641 8991 HGNC:10719 ENSG00000143416 selenium binding protein 1 SELENBP1 methanethiol oxidase LPSB, hSBP, hSP56 Yes No Comparative Toxicogenomics Database:8991, Ensembl:ENSG00000143416, GenAtlas:SELENBP1, GeneCard:SELENBP1, HGNC:HGNC:10719, HumanCyc Gene:HS07049, ModBase:Q13228, NCBI Gene:8991, OMIM:604188, RefSeq DNA:NT_004487, RefSeq Protein:NP_003935, RefSeq RNA:NM_003944, UCSC Genome Browser:NM_003944, UniProtKB:Q13228 No chr1 151336778 151345210 151364302 151372734 +PA166181629 9403 HGNC:17705 ENSG00000183291 selenoprotein F SELENOF selenoprotein F (15kDa) SEP15 Yes No Ensembl:ENSG00000183291, HGNC:HGNC:17705, NCBI Gene:9403 No 0 0 0 0 +PA25495 280636 HGNC:18251 ENSG00000211450 selenoprotein H SELENOH chromosome 11 open reading frame 31, selenoprotein H C11orf31, SELH Yes No Comparative Toxicogenomics Database:280636, Ensembl:ENSG00000211450, GenAtlas:C11orf31, GeneCard:C11orf31, HGNC:HGNC:18251, ModBase:Q8IZQ5, NCBI Gene:280636, OMIM:607914, RefSeq DNA:NT_167190, RefSeq Protein:NP_734467, RefSeq RNA:NM_170746, UniProtKB:Q8IZQ5 No chr11 57508722 57510883 57741250 57743554 +PA165696581 85465 HGNC:29361 ENSG00000138018 selenoprotein I SELENOI ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific), selenoprotein I EPT1, KIAA1724, SELI, SEPI Yes No Ensembl:ENSG00000138018, GeneCard:EPT1, HGNC:HGNC:29361, NCBI Gene:85465, OMIM:607915, RefSeq DNA:NT_022184, RefSeq Protein:NP_277040, RefSeq RNA:NM_033505, UniProtKB:Q9C0D9 No chr2 26568954 26618759 26346086 26395891 +PA166181630 58515 HGNC:30394 ENSG00000113811 selenoprotein K SELENOK SELK Yes No Ensembl:ENSG00000113811, HGNC:HGNC:30394, NCBI Gene:58515 No 0 0 0 0 +PA166181631 140606 HGNC:30397 ENSG00000198832 selenoprotein M SELENOM SELM, SEPM Yes No Ensembl:ENSG00000198832, HGNC:HGNC:30397, NCBI Gene:140606 No 0 0 0 0 +PA38079 57190 HGNC:15999 ENSG00000162430 selenoprotein N SELENON selenoprotein N, 1 MDRS1, RSMD1, RSS, SEPN1, selN Yes No Comparative Toxicogenomics Database:57190, Ensembl:ENSG00000162430, GenAtlas:SEPN1, GeneCard:SEPN1, HGNC:HGNC:15999, HumanCyc Gene:HS08675, NCBI Gene:57190, OMIM:602771, OMIM:606210, RefSeq DNA:NG_009930, RefSeq DNA:NT_004610, RefSeq Protein:NP_065184, RefSeq Protein:NP_996809, RefSeq RNA:NM_020451, RefSeq RNA:NM_206926, UCSC Genome Browser:NM_020451, UniProtKB:Q9NZV5 No chr1 26126667 26144713 25800176 25818222 +PA166181632 83642 HGNC:30395 ENSG00000073169 selenoprotein O SELENOO SELO Yes No Ensembl:ENSG00000073169, HGNC:HGNC:30395, NCBI Gene:83642 No 0 0 0 0 +PA35672 6414 HGNC:10751 ENSG00000250722 selenoprotein P SELENOP selenoprotein P, plasma, 1 SELP, SEPP, SEPP1, SeP Yes No Comparative Toxicogenomics Database:6414, Ensembl:ENSG00000250722, GenAtlas:SEPP1, GeneCard:SEPP1, HGNC:HGNC:10751, ModBase:P49908, NCBI Gene:6414, OMIM:601484, RefSeq DNA:NT_006576, RefSeq Protein:NP_001078955, RefSeq Protein:NP_001087195, RefSeq Protein:NP_005401, RefSeq RNA:NM_001085486, RefSeq RNA:NM_001093726, RefSeq RNA:NM_005410, UCSC Genome Browser:NM_005410, UniProtKB:P49908 No chr5 42799982 42812024 42799880 42811922 +PA166048999 55829 HGNC:30396 ENSG00000131871 selenoprotein S SELENOS VCP-interacting membrane protein, selenoprotein S, valosin-containing protein-interacting membrane protein AD-015, MGC2553, SBBI8, SELS, SEPS1, VIMP Yes No Ensembl:ENSG00000131871, HGNC:HGNC:30396, NCBI Gene:55829 No chr15 101811214 101817700 101270909 101277520 +PA166181633 51714 HGNC:18136 ENSG00000198843 selenoprotein T SELENOT SELT Yes No Ensembl:ENSG00000198843, HGNC:HGNC:18136, NCBI Gene:51714 No 0 0 0 0 +PA166181634 348303 HGNC:30399 ENSG00000186838 selenoprotein V SELENOV SELV Yes No Ensembl:ENSG00000186838, HGNC:HGNC:30399, NCBI Gene:348303 No 0 0 0 0 +PA35673 6415 HGNC:10752 ENSG00000178980 selenoprotein W SELENOW selenoprotein W, 1 SEPW1, selW Yes No Comparative Toxicogenomics Database:6415, Ensembl:ENSG00000178980, GenAtlas:SEPW1, GeneCard:SEPW1, HGNC:HGNC:10752, ModBase:P63302, NCBI Gene:6415, OMIM:603235, RefSeq DNA:NT_011109, RefSeq Protein:NP_003000, RefSeq RNA:NM_003009, UCSC Genome Browser:NM_003009, UniProtKB:P63302 No chr19 48281842 48287939 47778585 47784682 +PA35642 6402 HGNC:10720 ENSG00000188404 selectin L SELL CD62L, LAM-1, LAM1, LNHR, LSEL, LYAM1, Leu-8, Lyam-1, PLNHR, hLHRc Yes No Comparative Toxicogenomics Database:6402, Ensembl:ENSG00000188404, GenAtlas:SELL, GeneCard:SELL, HGNC:HGNC:10720, HumanCyc Gene:HS04140, ModBase:P14151, NCBI Gene:6402, OMIM:153240, OMIM:161950, RefSeq DNA:NG_016132, RefSeq DNA:NT_004487, RefSeq Protein:NP_000646, RefSeq RNA:NM_000655, RefSeq RNA:NR_029467, UCSC Genome Browser:NM_000655, UniProtKB:P14151, UniProtKB:Q9UJ43 No chr1 169659806 169680843 169690665 169711702 +PA35643 6403 HGNC:10721 ENSG00000174175 selectin P SELP """antigen CD62"", ""granule membrane protein 140kDa"", ""selectin P (granule membrane protein 140kDa, antigen CD62)""" CD62, CD62P, GMP140, GRMP, PADGEM, PSEL Yes Yes Comparative Toxicogenomics Database:6403, Ensembl:ENSG00000174175, GenAtlas:SELP, GeneCard:SELP, HGNC:HGNC:10721, HumanCyc Gene:HS10773, NCBI Gene:6403, OMIM:147050, OMIM:173610, RefSeq DNA:NG_012125, RefSeq DNA:NT_004487, RefSeq Protein:NP_002996, RefSeq RNA:NM_003005, UCSC Genome Browser:NM_003005, UniProtKB:P16109, UniProtKB:Q5R349, UniProtKB:Q6NUL9 No chr1 169558087 169599377 169588849 169630139 +PA35644 6404 HGNC:10722 ENSG00000110876 selectin P ligand SELPLG CD162, PSGL-1 Yes No Comparative Toxicogenomics Database:6404, Ensembl:ENSG00000110876, GenAtlas:SELPLG, GeneCard:SELPLG, HGNC:HGNC:10722, HumanCyc Gene:HS03348, ModBase:Q14242, NCBI Gene:6404, OMIM:600738, RefSeq DNA:NT_029419, RefSeq Protein:NP_001193538, RefSeq Protein:NP_002997, RefSeq RNA:NM_001206609, RefSeq RNA:NM_003006, UCSC Genome Browser:NM_003006, UniProtKB:Q14242 No chr12 109015671 109027735 108621895 108633894 +PA35749 7979 HGNC:10845 ENSG00000127922 SEM1 26S proteasome subunit SEM1 """SEM1 26S proteasome complex subunit"", ""SEM1, 26S proteasome complex subunit"", ""deleted in split-hand/foot 1"", ""split hand/foot malformation (ectrodactyly) type 1""" C7orf76, DSS1, ECD, FLJ42280, PSMD15, SEM1, SHFD1, SHFM1, SHSF1, Shfdg1 Yes No Comparative Toxicogenomics Database:7979, Ensembl:ENSG00000127922, GenAtlas:SHFM1, GeneCard:SHFM1, HGNC:HGNC:10845, HumanCyc Gene:HS05136, ModBase:P60896, NCBI Gene:7979, OMIM:183600, OMIM:601285, RefSeq DNA:NG_009273, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_006295, RefSeq RNA:NM_006304, UniProtKB:P60896, UniProtKB:Q6IBB7 No chr7 96318079 96339203 96688767 96709891 +PA35645 10371 HGNC:10723 ENSG00000075213 semaphorin 3A SEMA3A """sema III"", ""sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A""" Hsema-I, SEMA1, SEMAD, SemD, coll-1 Yes No Ensembl:ENSG00000075213, GenAtlas:SEMA3A, GeneCard:SEMA3A, HGNC:HGNC:10723, HumanCyc Gene:HS01164, ModBase:Q14563, NCBI Gene:10371, OMIM:603961, RefSeq DNA:NG_011489, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_006071, RefSeq RNA:NM_006080, UCSC Genome Browser:NM_006080, UniProtKB:Q14563 No chr7 83587659 84122040 83956846 84492724 +PA35646 7869 HGNC:10724 ENSG00000012171 semaphorin 3B SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B LUCA-1, SEMAA, SemA, sema5, semaV Yes No Comparative Toxicogenomics Database:7869, Ensembl:ENSG00000012171, GenAtlas:SEMA3B, GeneCard:SEMA3B, HGNC:HGNC:10724, HumanCyc Gene:HS00329, ModBase:Q13214, NCBI Gene:7869, OMIM:601281, RefSeq DNA:NT_022517, RefSeq Protein:NP_001005914, RefSeq Protein:NP_004627, RefSeq RNA:NM_001005914, RefSeq RNA:NM_004636, UCSC Genome Browser:NM_004636, UniProtKB:Q13214 No chr3 50305040 50314573 50267558 50277171 +PA35647 10512 HGNC:10725 ENSG00000075223 semaphorin 3C SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C SEMAE, SemE Yes Yes Comparative Toxicogenomics Database:10512, Ensembl:ENSG00000075223, GenAtlas:SEMA3C, GeneCard:SEMA3C, HGNC:HGNC:10725, HumanCyc Gene:HS01166, ModBase:Q99985, NCBI Gene:10512, OMIM:602645, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_006370, RefSeq RNA:NM_006379, UCSC Genome Browser:NM_006379, UniProtKB:Q99985 No chr7 80371854 80551695 80742538 80919351 +PA35648 223117 HGNC:10726 ENSG00000153993 semaphorin 3D SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D Sema-Z2, coll-2 Yes No Ensembl:ENSG00000153993, GenAtlas:SEMA3D, GeneCard:SEMA3D, HGNC:HGNC:10726, HumanCyc Gene:HS07939, ModBase:O95025, NCBI Gene:223117, OMIM:609907, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_689967, RefSeq RNA:NM_152754, UCSC Genome Browser:NM_152754, UniProtKB:O95025 No chr7 84624508 84816171 84995192 85187176 +PA35649 9723 HGNC:10727 ENSG00000170381 semaphorin 3E SEMA3E """M-sema H"", ""sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E""" KIAA0331, M-SemaK, SEMAH, coll-5 Yes No Comparative Toxicogenomics Database:9723, Ensembl:ENSG00000170381, GenAtlas:SEMA3E, GeneCard:SEMA3E, HGNC:HGNC:10727, HumanCyc Gene:HS10118, ModBase:O15041, NCBI Gene:9723, OMIM:214800, OMIM:608166, RefSeq DNA:NG_021242, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001171600, RefSeq Protein:NP_036563, RefSeq RNA:NM_001178129, RefSeq RNA:NM_012431, UCSC Genome Browser:NM_012431, UniProtKB:B4E1P1, UniProtKB:O15041 No chr7 82993222 83278479 83363906 83649163 +PA35650 6405 HGNC:10728 ENSG00000001617 semaphorin 3F SEMA3F """sema IV"", ""sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F""" SEMAK, Sema4 Yes No Comparative Toxicogenomics Database:6405, Ensembl:ENSG00000001617, GenAtlas:SEMA3F, GeneCard:SEMA3F, HGNC:HGNC:10728, HumanCyc Gene:HS00074, ModBase:Q13275, NCBI Gene:6405, OMIM:601124, RefSeq DNA:NT_022517, RefSeq Protein:NP_004177, RefSeq RNA:NM_004186, UCSC Genome Browser:NM_004186, UniProtKB:Q13275 No chr3 50192562 50226508 50155045 50189075 +PA142670937 56920 HGNC:30400 ENSG00000010319 semaphorin 3G SEMA3G sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G FLJ00014, sem2 Yes No Ensembl:ENSG00000010319, GeneCard:SEMA3G, HGNC:HGNC:30400, HumanCyc Gene:HS00282, ModBase:Q9NS98, NCBI Gene:56920, RefSeq DNA:NT_022517, RefSeq Protein:NP_064548, RefSeq RNA:NM_020163, UniProtKB:Q9NS98 No chr3 52467268 52479112 52433252 52445027 +PA35651 64218 HGNC:10729 ENSG00000196189 semaphorin 4A SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A CORD10, FLJ12287, SEMAB, SemB Yes No Comparative Toxicogenomics Database:64218, Ensembl:ENSG00000196189, GenAtlas:SEMA4A, GeneCard:SEMA4A, HGNC:HGNC:10729, ModBase:Q9H3S1, NCBI Gene:64218, OMIM:607292, OMIM:610282, OMIM:610283, RefSeq DNA:NT_004487, RefSeq Protein:NP_001180229, RefSeq Protein:NP_001180230, RefSeq Protein:NP_001180231, RefSeq Protein:NP_071762, RefSeq RNA:NM_001193300, RefSeq RNA:NM_001193301, RefSeq RNA:NM_001193302, RefSeq RNA:NM_022367, UniProtKB:Q9H3S1 No chr1 156117145 156147542 156149673 156177751 +PA35652 10509 HGNC:10730 ENSG00000185033 semaphorin 4B SEMA4B sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B KIAA1745, MGC131831, SEMAC, SemC Yes No Comparative Toxicogenomics Database:10509, Ensembl:ENSG00000185033, GenAtlas:SEMA4B, GeneCard:SEMA4B, HGNC:HGNC:10730, ModBase:Q9NPR2, NCBI Gene:10509, RefSeq DNA:NT_010274, RefSeq Protein:NP_064595, RefSeq Protein:NP_945119, RefSeq RNA:NM_020210, RefSeq RNA:NM_198925, UCSC Genome Browser:NM_020210 No chr15 90727985 90772897 90184920 90229660 +PA35653 54910 HGNC:10731 ENSG00000168758 semaphorin 4C SEMA4C """M-Sema F"", ""sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C""" SEMAI, Semacl1, Semaf Yes No Comparative Toxicogenomics Database:54910, Ensembl:ENSG00000168758, GenAtlas:SEMA4C, GeneCard:SEMA4C, HGNC:HGNC:10731, HumanCyc Gene:HS09816, ModBase:Q9C0C4, NCBI Gene:54910, OMIM:604462, RefSeq DNA:NT_022171, RefSeq Protein:NP_060259, RefSeq RNA:NM_017789, UCSC Genome Browser:NM_017789, UniProtKB:Q9C0C4 No chr2 97525473 97536680 96859736 96870943 +PA35654 10507 HGNC:10732 ENSG00000187764 semaphorin 4D SEMA4D """M-sema G"", ""sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D""" C9orf164, CD100, FLJ39737, SEMAJ, coll-4 Yes No Comparative Toxicogenomics Database:10507, Ensembl:ENSG00000187764, GenAtlas:SEMA4D, GeneCard:SEMA4D, HGNC:HGNC:10732, ModBase:Q92854, NCBI Gene:10507, OMIM:601866, RefSeq DNA:NT_008470, RefSeq Protein:NP_001135759, RefSeq Protein:NP_006369, RefSeq RNA:NM_001142287, RefSeq RNA:NM_006378, UCSC Genome Browser:NM_006378, UniProtKB:Q92854 No chr9 91975706 92112906 89360791 89498065 +PA35656 10505 HGNC:10734 ENSG00000135622 ssemaphorin 4F SEMA4F """m-Sema M"", ""sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F""" SEMAM, SEMAW Yes No Ensembl:ENSG00000135622, GenAtlas:SEMA4F, GeneCard:SEMA4F, HGNC:HGNC:10734, HumanCyc Gene:HS06037, ModBase:O95754, NCBI Gene:10505, OMIM:603706, RefSeq DNA:NT_022184, RefSeq Protein:NP_004254, RefSeq RNA:NM_004263, UCSC Genome Browser:NM_004263, UniProtKB:O95754 No chr2 74881355 74910981 74654228 74699013 +PA35657 57715 HGNC:10735 ENSG00000095539 semaphorin 4G SEMA4G sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G FLJ20590, KIAA1619 Yes No Comparative Toxicogenomics Database:57715, Ensembl:ENSG00000095539, GenAtlas:SEMA4G, GeneCard:SEMA4G, HGNC:HGNC:10735, HumanCyc Gene:HS01824, ModBase:Q9NTN9, NCBI Gene:57715, RefSeq DNA:NT_030059, RefSeq Protein:NP_001190173, RefSeq Protein:NP_060363, RefSeq RNA:NM_001203244, RefSeq RNA:NM_017893, UCSC Genome Browser:NM_017893, UniProtKB:Q9NTN9 No chr10 102729254 102745373 100969483 100985618 +PA35658 9037 HGNC:10736 ENSG00000112902 semaphorin 5A SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A SEMAF, semF Yes Yes Comparative Toxicogenomics Database:9037, Ensembl:ENSG00000112902, GenAtlas:SEMA5A, GeneCard:SEMA5A, HGNC:HGNC:10736, HumanCyc Gene:HS03630, ModBase:Q13591, NCBI Gene:9037, OMIM:609297, RefSeq DNA:NG_016410, RefSeq DNA:NT_006576, RefSeq Protein:NP_003957, RefSeq RNA:NM_003966, UCSC Genome Browser:NM_003966, UniProtKB:Q13591 No chr5 9035138 9546233 9035026 9546121 +PA35659 54437 HGNC:10737 ENSG00000082684 semaphorin 5B SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B FLJ10372, KIAA1445, SEMAG, SemG Yes No Ensembl:ENSG00000082684, GenAtlas:SEMA5B, GeneCard:SEMA5B, HGNC:HGNC:10737, HumanCyc Gene:HS01428, ModBase:Q9P283, NCBI Gene:54437, OMIM:609298, RefSeq DNA:NT_005612, RefSeq Protein:NP_001026872, RefSeq RNA:NM_001031702, UniProtKB:Q9P283 No chr3 122628040 122747452 122909193 123028605 +PA35660 57556 HGNC:10738 ENSG00000092421 semaphorin 6A SEMA6A """sema VIa"", ""sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A""" HT018, KIAA1368, SEMA, SEMA6A1, SEMAQ Yes Yes Comparative Toxicogenomics Database:57556, Ensembl:ENSG00000092421, GenAtlas:SEMA6A, GeneCard:SEMA6A, HGNC:HGNC:10738, HumanCyc Gene:HS01770, ModBase:Q9H2E6, NCBI Gene:57556, OMIM:605885, RefSeq DNA:NT_034772, RefSeq Protein:NP_065847, RefSeq RNA:NM_020796, UCSC Genome Browser:NM_020796, UniProtKB:Q9H2E6 No chr5 115779251 115910551 116443555 116574926 +PA35661 10501 HGNC:10739 ENSG00000167680 semaphorin 6B SEMA6B """Sema VIb"", ""sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B"", ""semaphorin VIB"", ""semaphorin Z""" SEM-SEMA-Y, SEM-SEMA-Z, SEMA-VIB, SEMAN, semaZ Yes No Comparative Toxicogenomics Database:10501, Ensembl:ENSG00000167680, GenAtlas:SEMA6B, GeneCard:SEMA6B, HGNC:HGNC:10739, HumanCyc Gene:HS09606, ModBase:Q9H3T3, NCBI Gene:10501, OMIM:608873, RefSeq DNA:NT_011255, RefSeq Protein:NP_115484, RefSeq RNA:NM_032108, UCSC Genome Browser:NM_020241, UniProtKB:Q9H3T3 No chr19 4542600 4559771 4542588 4581484 +PA35662 10500 HGNC:10740 ENSG00000143434 semaphorin 6C SEMA6C """m-Sema Y2"", ""sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C""" KIAA1869, Sema-Y Yes No Comparative Toxicogenomics Database:10500, Ensembl:ENSG00000143434, GenAtlas:SEMA6C, GeneCard:SEMA6C, HGNC:HGNC:10740, HumanCyc Gene:HS07053, ModBase:Q9H3T2, NCBI Gene:10500, OMIM:609294, RefSeq DNA:NT_004487, RefSeq Protein:NP_001171532, RefSeq Protein:NP_001171533, RefSeq Protein:NP_112175, RefSeq RNA:NM_001178061, RefSeq RNA:NM_001178062, RefSeq RNA:NM_030913, UCSC Genome Browser:NM_030913, UniProtKB:Q5JR72, UniProtKB:Q5JR73, UniProtKB:Q9H3T2 No chr1 151104161 151119146 151131685 151148408 +PA134951035 80031 HGNC:16770 ENSG00000137872 semaphorin 6D SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D FLJ11598, KIAA1479 Yes No Comparative Toxicogenomics Database:80031, Ensembl:ENSG00000137872, GeneCard:SEMA6D, HGNC:HGNC:16770, HumanCyc Gene:HS06414, ModBase:Q9P249, NCBI Gene:80031, OMIM:609295, RefSeq DNA:NT_010194, RefSeq Protein:NP_001185928, RefSeq Protein:NP_065909, RefSeq Protein:NP_079242, RefSeq Protein:NP_705869, RefSeq Protein:NP_705870, RefSeq Protein:NP_705871, RefSeq Protein:NP_705872, RefSeq RNA:NM_001198999, RefSeq RNA:NM_020858, RefSeq RNA:NM_024966, RefSeq RNA:NM_153616, RefSeq RNA:NM_153617, RefSeq RNA:NM_153618, RefSeq RNA:NM_153619, UniProtKB:A6NM95, UniProtKB:Q8NFY4 No chr15 47476403 48066420 47184101 47774223 +PA35663 8482 HGNC:10741 ENSG00000138623 semaphorin 7A (JohnMiltonHagen blood group) SEMA7A """H-Sema K1"", ""John Milton Hagen blood group"", ""semaphorin 7A (John Milton Hagen blood group)"", ""semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)""" CD108, H-Sema-L, SEMAL Yes No Comparative Toxicogenomics Database:8482, Ensembl:ENSG00000138623, GenAtlas:SEMA7A, GeneCard:SEMA7A, HGNC:HGNC:10741, HumanCyc Gene:HS06521, ModBase:O75326, NCBI Gene:8482, OMIM:607961, RefSeq DNA:NG_011733, RefSeq DNA:NT_010194, RefSeq Protein:NP_001139501, RefSeq Protein:NP_001139502, RefSeq Protein:NP_003603, RefSeq RNA:NM_001146029, RefSeq RNA:NM_001146030, RefSeq RNA:NM_003612, UCSC Genome Browser:NM_003612, UniProtKB:B4DDP7, UniProtKB:O75326 No chr15 74701630 74726299 74409284 74433959 +PA35664 6406 HGNC:10742 ENSG00000124233 semenogelin 1 SEMG1 cancer/testis antigen 103, semen coagulating protein, semenogelin I CT103, SEMG Yes No Comparative Toxicogenomics Database:6406, Ensembl:ENSG00000124233, GenAtlas:SEMG1, GeneCard:SEMG1, HGNC:HGNC:10742, HumanCyc Gene:HS04747, ModBase:P04279, NCBI Gene:6406, OMIM:182140, RefSeq DNA:NT_011362, RefSeq Protein:NP_002998, RefSeq Protein:NP_937782, RefSeq RNA:NM_003007, RefSeq RNA:NM_198139, UCSC Genome Browser:NM_003007, UniProtKB:P04279 No chr20 43835605 43838414 45206964 45209773 +PA35665 6407 HGNC:10743 ENSG00000124157 semenogelin 2 SEMG2 Semenogelin 2, semenogelin II SGII Yes No Comparative Toxicogenomics Database:6407, Ensembl:ENSG00000124157, GenAtlas:SEMG2, GeneCard:SEMG2, HGNC:HGNC:10743, HumanCyc Gene:HS04722, ModBase:Q02383, NCBI Gene:6407, OMIM:182141, RefSeq DNA:NT_011362, RefSeq Protein:NP_002999, RefSeq RNA:NM_003008, UCSC Genome Browser:NM_003008, UniProtKB:Q02383 No chr20 43850010 43853099 45221369 45224458 +PA134947038 29843 HGNC:17927 ENSG00000079387 SUMO specific peptidase 1 SENP1 SUMO1/sentrin specific peptidase 1 Yes No Comparative Toxicogenomics Database:29843, Ensembl:ENSG00000079387, GeneCard:SENP1, HGNC:HGNC:17927, HumanCyc Gene:HS01325, NCBI Gene:29843, OMIM:612157, RefSeq DNA:NT_029419, RefSeq Protein:NP_055369, RefSeq RNA:NM_014554, UniProtKB:Q6N001, UniProtKB:Q7Z3G1, UniProtKB:Q9P0U3 No chr12 48436681 48500091 48042893 48106308 +PA134955185 59343 HGNC:23116 ENSG00000163904 SUMO specific peptidase 2 SENP2 SUMO1/sentrin/SMT3 specific peptidase 2 AXAM2, DKFZp762A2316, KIAA1331, SMT3IP2 Yes No Ensembl:ENSG00000163904, GeneCard:SENP2, HGNC:HGNC:23116, ModBase:Q9HC62, NCBI Gene:59343, OMIM:608261, RefSeq DNA:NT_005612, RefSeq Protein:NP_067640, RefSeq RNA:NM_021627, UniProtKB:Q9HC62 No chr3 185300284 185348889 185586228 185631101 +PA134933213 26168 HGNC:17862 ENSG00000161956 SUMO specific peptidase 3 SENP3 SUMO1/sentrin/SMT3 specific peptidase 3 DKFZP586K0919, DKFZp762A152, SMT3IP1, SSP3, Ulp1 Yes Yes Comparative Toxicogenomics Database:26168, Ensembl:ENSG00000161956, GeneCard:SENP3, HGNC:HGNC:17862, HumanCyc Gene:HS08628, ModBase:Q9H4L4, NCBI Gene:26168, OMIM:612844, RefSeq DNA:NT_010718, RefSeq Protein:NP_056485, RefSeq RNA:NM_015670, UniProtKB:Q9H4L4 No chr17 7465309 7475287 7561992 7571969 +PA134917083 205564 HGNC:28407 ENSG00000119231 SUMO specific peptidase 5 SENP5 SUMO1/sentrin specific peptidase 5 MGC27076 Yes No Ensembl:ENSG00000119231, GeneCard:SENP5, HGNC:HGNC:28407, HumanCyc Gene:HS04281, ModBase:Q96HI0, NCBI Gene:205564, OMIM:612845, RefSeq DNA:NT_029928, RefSeq Protein:NP_689912, RefSeq RNA:NM_152699, UniProtKB:Q96HI0 No chr3 196594727 196661585 196867856 196934714 +PA134893291 26054 HGNC:20944 ENSG00000112701 SUMO specific peptidase 6 SENP6 SUMO1/sentrin specific peptidase 6 KIAA0797, SUSP1 Yes No Comparative Toxicogenomics Database:26054, Ensembl:ENSG00000112701, GeneCard:SENP6, HGNC:HGNC:20944, HumanCyc Gene:HS03609, ModBase:Q9GZR1, NCBI Gene:26054, OMIM:605003, RefSeq DNA:NT_007299, RefSeq Protein:NP_001093879, RefSeq Protein:NP_056386, RefSeq RNA:NM_001100409, RefSeq RNA:NM_015571, UniProtKB:B3KMM0, UniProtKB:Q9GZR1 No chr6 76311596 76427997 75601509 75718285 +PA134925171 57337 HGNC:30402 ENSG00000138468 SUMO specific peptidase 7 SENP7 SUMO1/sentrin specific peptidase 7 Yes No Comparative Toxicogenomics Database:57337, Ensembl:ENSG00000138468, GeneCard:SENP7, HGNC:HGNC:30402, HumanCyc Gene:HS06510, ModBase:Q9BQF6, NCBI Gene:57337, OMIM:612846, RefSeq DNA:NT_005612, RefSeq Protein:NP_001070671, RefSeq Protein:NP_065705, RefSeq RNA:NM_001077203, RefSeq RNA:NM_020654, UniProtKB:Q9BQF6 No chr3 101043049 101232085 101324189 101513241 +PA134866772 123228 HGNC:22992 ENSG00000166192 SUMO peptidase family member, NEDD8 specific SENP8 NEDD8-specific protease 1, SUMO/sentrin specific peptidase family member 8, deneddylase 1, sentrin/SUMO-specific protease SENP8 DEN1, HsT17512, NEDP1, PRSC2 Yes No Comparative Toxicogenomics Database:123228, Ensembl:ENSG00000166192, GeneCard:SENP8, HGNC:HGNC:22992, HumanCyc Gene:HS09352, ModBase:Q96LD8, NCBI Gene:123228, OMIM:608659, RefSeq DNA:NT_010194, RefSeq Protein:NP_001159812, RefSeq Protein:NP_001165580, RefSeq Protein:NP_001165581, RefSeq Protein:NP_001165582, RefSeq Protein:NP_660205, RefSeq RNA:NM_001166340, RefSeq RNA:NM_001172109, RefSeq RNA:NM_001172110, RefSeq RNA:NM_001172111, RefSeq RNA:NM_145204, UniProtKB:A8K8D3, UniProtKB:Q96LD8 No chr15 72406599 72433311 72114258 72143688 +PA134905215 22929 HGNC:19685 ENSG00000086475 selenophosphate synthetase 1 SEPHS1 selenide, water dikinase SPS, SPS1 Yes No Comparative Toxicogenomics Database:22929, Ensembl:ENSG00000086475, GeneCard:SEPHS1, HGNC:HGNC:19685, HumanCyc Gene:HS01530, ModBase:P49903, NCBI Gene:22929, OMIM:600902, RefSeq DNA:NT_008705, RefSeq Protein:NP_001182531, RefSeq Protein:NP_001182533, RefSeq Protein:NP_036379, RefSeq RNA:NM_001195602, RefSeq RNA:NM_001195604, RefSeq RNA:NM_012247, UniProtKB:P49903 No chr10 13359428 13390298 13317428 13348298 +PA134868765 22928 HGNC:19686 ENSG00000179918 selenophosphate synthetase 2 SEPHS2 selenoprotein SEPHS2 SPS2, SPS2b Yes No Comparative Toxicogenomics Database:22928, Ensembl:ENSG00000179918, GeneCard:SEPHS2, HGNC:HGNC:19686, HumanCyc Gene:HS11405, HumanCyc Gene:HS11429, ModBase:Q99611, NCBI Gene:22928, OMIM:606218, RefSeq DNA:NT_010393, RefSeq Protein:NP_036380, RefSeq RNA:NM_012248, UniProtKB:Q8N9T3, UniProtKB:Q99611 No chr16 30454952 30457224 30443625 30445975 +PA162402915 51091 HGNC:30605 ENSG00000109618 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase SEPSECS O-phosphoseryl-tRNA(Sec) selenium transferase, soluble liver antigen/liver pancreas antigen SLA, SLA-p35, SLA/LP, SecS Yes No Ensembl:ENSG00000109618, GeneCard:SEPSECS, HGNC:HGNC:30605, HumanCyc Gene:HS03243, ModBase:Q9HD40, NCBI Gene:51091, OMIM:613009, RefSeq DNA:NT_006316, RefSeq Protein:NP_058651, RefSeq Protein:NP_722547, RefSeq RNA:NM_016955, RefSeq RNA:NM_153825, UniProtKB:Q9HD40 No chr4 25121627 25162204 25120005 25160582 +PA24354 1731 HGNC:2879 ENSG00000180096 septin 1 SEPTIN1 DIFF6, PNUTL3, SEPT1, Septin-1 Yes No Comparative Toxicogenomics Database:1731, Ensembl:ENSG00000180096, GenAtlas:SEPT1, GeneCard:SEPT1, HGNC:HGNC:2879, HumanCyc Gene:HS11448, ModBase:Q8WYJ6, NCBI Gene:1731, OMIM:612897, RefSeq DNA:NT_010393, RefSeq Protein:NP_443070, RefSeq RNA:NM_052838, UCSC Genome Browser:NM_052838, UniProtKB:Q8WYJ6 No chr16 30389454 30394171 30378133 30382850 +PA134918683 151011 HGNC:14349 ENSG00000186522 septin 10 SEPTIN10 sept1-like FLJ11619, SEPT10, Septin-10 Yes No Ensembl:ENSG00000186522, GeneCard:SEPT10, HGNC:HGNC:14349, ModBase:Q9P0V9, NCBI Gene:151011, OMIM:611737, RefSeq DNA:NT_022135, RefSeq Protein:NP_653311, RefSeq Protein:NP_848699, RefSeq RNA:NM_144710, RefSeq RNA:NM_178584, UniProtKB:B3KRQ9, UniProtKB:Q9P0V9 No chr2 110300372 110371783 109542797 109614247 +PA128394688 55752 HGNC:25589 ENSG00000138758 septin 11 SEPTIN11 FLJ10849, SEPT11, Septin-11 Yes No Comparative Toxicogenomics Database:55752, Ensembl:ENSG00000138758, GeneCard:SEPT11, HGNC:HGNC:25589, HumanCyc Gene:HS13742, ModBase:Q9NVA2, NCBI Gene:55752, OMIM:612887, RefSeq DNA:NT_016354, RefSeq Protein:NP_060713, RefSeq RNA:NM_018243, UCSC Genome Browser:NM_018243, UniProtKB:Q9NVA2 No chr4 77870895 77961307 76949714 77040154 +PA162402916 124404 HGNC:26348 ENSG00000140623 septin 12 SEPTIN12 FLJ25410, SEPT12 Yes No Ensembl:ENSG00000140623, GeneCard:SEPT12, HGNC:HGNC:26348, HumanCyc Gene:HS13843, ModBase:Q8IYM1, NCBI Gene:124404, OMIM:611562, RefSeq DNA:NT_010393, RefSeq Protein:NP_001147930, RefSeq Protein:NP_653206, RefSeq RNA:NM_001154458, RefSeq RNA:NM_144605, UniProtKB:Q8IYM1 No chr16 4827615 4838522 4777602 4791610 +PA162402917 346288 HGNC:33280 ENSG00000154997 septin 14 SEPTIN14 FLJ44060, SEPT14, Septin-14 Yes No Ensembl:ENSG00000154997, GeneCard:SEPT14, HGNC:HGNC:33280, ModBase:Q6ZU15, NCBI Gene:346288, OMIM:612140, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_997249, RefSeq RNA:NM_207366, UniProtKB:Q6ZU15 No chr7 55861237 55930482 55793544 55862789 +PA31535 4735 HGNC:7729 ENSG00000168385 septin 2 SEPTIN2 DIFF6, KIAA0158, NEDD5, Pnutl3, SEPT2, Septin-2, hNedd5 Yes No Comparative Toxicogenomics Database:4735, Ensembl:ENSG00000168385, GenAtlas:SEPT2, GeneCard:SEPT2, HGNC:HGNC:7729, HumanCyc Gene:HS09743, ModBase:Q15019, NCBI Gene:4735, OMIM:601506, RefSeq DNA:NT_005416, RefSeq Protein:NP_001008491, RefSeq Protein:NP_001008492, RefSeq Protein:NP_004395, RefSeq Protein:NP_006146, RefSeq RNA:NM_001008491, RefSeq RNA:NM_001008492, RefSeq RNA:NM_004404, RefSeq RNA:NM_006155, UCSC Genome Browser:NM_004404, UniProtKB:Q15019 No chr2 242254723 242293442 241315187 241354027 +PA24355 55964 HGNC:10750 ENSG00000100167 septin 3 SEPTIN3 Neuronal-specific septin-3 SEP3, SEPT3 Yes Yes Comparative Toxicogenomics Database:55964, Ensembl:ENSG00000100167, GenAtlas:SEPT3, GeneCard:SEPT3, HGNC:HGNC:10750, HumanCyc Gene:HS01991, ModBase:Q9UH03, NCBI Gene:55964, OMIM:608314, RefSeq DNA:NT_011520, RefSeq Protein:NP_061979, RefSeq Protein:NP_663786, RefSeq RNA:NM_019106, RefSeq RNA:NM_145733, UCSC Genome Browser:NM_019106, UniProtKB:Q9UH03 No chr22 42372855 42394225 41969455 41998221 +PA33487 5414 HGNC:9165 ENSG00000108387 septin 4 SEPTIN4 bradeoin, septin-M ARTS, C17orf47, CE5B3, FLJ40121, H5, MART, PNUTL2, SEPT4, Septin-4, hCDCREL-2, hucep-7 Yes No Comparative Toxicogenomics Database:5414, Ensembl:ENSG00000108387, GenAtlas:SEPT4, GeneCard:SEPT4, HGNC:HGNC:9165, HumanCyc Gene:HS03096, ModBase:O43236, NCBI Gene:5414, OMIM:603696, RefSeq DNA:NT_010783, RefSeq Protein:NP_001185642, RefSeq Protein:NP_004565, RefSeq Protein:NP_536340, RefSeq Protein:NP_536341, RefSeq RNA:NM_001198713, RefSeq RNA:NM_004574, RefSeq RNA:NM_080415, RefSeq RNA:NM_080416, RefSeq RNA:NR_037155, RefSeq RNA:NR_037156, UCSC Genome Browser:NM_004574, UniProtKB:O43236 No chr17 56597611 56618179 58520250 58540818 +PA33486 5413 HGNC:9164 ENSG00000184702 septin 5 SEPTIN5 Cell division control-related protein 1 CDCREL-1, H5, HCDCREL-1, PNUTL1, SEPT5, Septin-5 Yes No Comparative Toxicogenomics Database:5413, Ensembl:ENSG00000184702, GenAtlas:SEPT5, GeneCard:SEPT5, HGNC:HGNC:9164, ModBase:Q99719, NCBI Gene:5413, OMIM:602724, RefSeq DNA:NT_011519, RefSeq Protein:NP_001009939, RefSeq Protein:NP_002679, RefSeq RNA:NM_001009939, RefSeq RNA:NM_002688, UCSC Genome Browser:NM_002688, UniProtKB:Q99719 No chr22 19701987 19710845 19714464 19723322 +PA134941944 23157 HGNC:15848 ENSG00000125354 septin 6 SEPTIN6 KIAA0128, MGC16619, MGC20339, SEP2, SEPT2, SEPT6, Septin-6 Yes No Ensembl:ENSG00000125354, GeneCard:SEPT6, HGNC:HGNC:15848, HumanCyc Gene:HS04874, ModBase:Q14141, NCBI Gene:23157, OMIM:300683, RefSeq DNA:NG_012565, RefSeq DNA:NT_011786, RefSeq Protein:NP_055944, RefSeq Protein:NP_665798, RefSeq Protein:NP_665799, RefSeq Protein:NP_665801, RefSeq RNA:NM_015129, RefSeq RNA:NM_145799, RefSeq RNA:NM_145800, RefSeq RNA:NM_145802, UniProtKB:Q14141, UniProtKB:Q541S4, UniProtKB:Q548C9 No chrX 118749687 118827333 119615724 119693370 +PA26253 989 HGNC:1717 ENSG00000122545 septin 7 SEPTIN7 CDC10, CDC3, SEPT7, SEPT7A, Septin-7 Yes No Comparative Toxicogenomics Database:989, Ensembl:ENSG00000122545, GenAtlas:SEPT7, GeneCard:SEPT7, HGNC:HGNC:1717, HumanCyc Gene:HS04575, ModBase:Q16181, NCBI Gene:989, OMIM:603151, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001011553, RefSeq Protein:NP_001779, RefSeq RNA:NM_001011553, RefSeq RNA:NM_001788, UCSC Genome Browser:NM_001788, UniProtKB:Q16181, UniProtKB:Q3B7A3 No chr7 35840596 35946715 35800986 35915763 +PA134879270 23176 HGNC:16511 ENSG00000164402 septin 8 SEPTIN8 KIAA0202, SEP2, SEPT8, Septin-8 Yes No Comparative Toxicogenomics Database:23176, Ensembl:ENSG00000164402, GeneCard:SEPT8, HGNC:HGNC:16511, ModBase:Q92599, NCBI Gene:23176, OMIM:608418, RefSeq DNA:NT_034772, RefSeq Protein:NP_001092281, RefSeq Protein:NP_001092282, RefSeq Protein:NP_001092283, RefSeq Protein:NP_055961, RefSeq RNA:NM_001098811, RefSeq RNA:NM_001098812, RefSeq RNA:NM_001098813, RefSeq RNA:NM_015146, UniProtKB:Q92599 No chr5 132086509 132113976 132750817 132778216 +PA31132 10801 HGNC:7323 ENSG00000184640 septin 9 SEPTIN9 Ov/Br septin, peanut-like 4 (Drosophila) AF17q25, KIAA0991, MSF, MSF1, PNUTL4, SEPT9, SeptD1 Yes No Comparative Toxicogenomics Database:10801, Ensembl:ENSG00000184640, GenAtlas:SEPT9, GeneCard:SEPT9, HGNC:HGNC:7323, ModBase:Q9UHD8, NCBI Gene:10801, OMIM:162100, OMIM:604061, RefSeq DNA:NG_011683, RefSeq DNA:NT_010783, RefSeq Protein:NP_001106963, RefSeq Protein:NP_001106964, RefSeq Protein:NP_001106965, RefSeq Protein:NP_001106966, RefSeq Protein:NP_001106967, RefSeq Protein:NP_001106968, RefSeq Protein:NP_006631, RefSeq RNA:NM_001113491, RefSeq RNA:NM_001113492, RefSeq RNA:NM_001113493, RefSeq RNA:NM_001113494, RefSeq RNA:NM_001113495, RefSeq RNA:NM_001113496, RefSeq RNA:NM_006640, UCSC Genome Browser:NM_006640, UniProtKB:Q9UHD8 No chr17 75277492 75496678 77281410 77500596 +PA134951844 84947 HGNC:21061 ENSG00000122335 serine active site containing 1 SERAC1 FLJ14917 Yes No Comparative Toxicogenomics Database:84947, Ensembl:ENSG00000122335, GeneCard:SERAC1, HGNC:HGNC:21061, HumanCyc Gene:HS04562, ModBase:Q96JX3, NCBI Gene:84947, RefSeq DNA:NT_025741, RefSeq Protein:NP_116250, RefSeq RNA:NM_032861, UniProtKB:Q96JX3 No chr6 158530536 158589312 158109504 158168280 +PA413 26135 HGNC:17860 ENSG00000142864 SERPINE1 mRNA binding protein 1 SERBP1 CGI-55, CHD3IP, DKFZP564M2423, HABP4L, PAI-RBP1, PAIRBP1 Yes No Comparative Toxicogenomics Database:26135, Ensembl:ENSG00000142864, GenAtlas:SERBP1, GeneCard:SERBP1, HGNC:HGNC:17860, HumanCyc Gene:HS13940, ModBase:Q9Y367, NCBI Gene:26135, OMIM:607378, RefSeq DNA:NT_032977, RefSeq Protein:NP_001018077, RefSeq Protein:NP_001018078, RefSeq Protein:NP_001018079, RefSeq Protein:NP_056455, RefSeq RNA:NM_001018067, RefSeq RNA:NM_001018068, RefSeq RNA:NM_001018069, RefSeq RNA:NM_015640, UCSC Genome Browser:NM_015640, UniProtKB:Q5VU21, UniProtKB:Q63HR1, UniProtKB:Q8NC51 No chr1 67873493 67896123 67407810 67430440 +PA142670934 389866 HGNC:32247 ENSG00000213740 SERPINE1 mRNA binding protein 1 pseudogene 1 SERBP1P1 Yes No Ensembl:ENSG00000213740, HGNC:HGNC:32247, NCBI Gene:389866, RefSeq DNA:NG_005103, RefSeq DNA:NT_011669 No chrX 68003216 68006273 68783373 68786430 +PA35675 8293 HGNC:10755 ENSG00000172058, ENSG00000205572 small EDRK-rich factor 1A SERF1A SMA modifier 1, small EDRK-rich factor 1A (telomeric), spinal muscular atrophy-related gene H4F5 4F5, FAM2A, H4F5, SERF1, SMAM1 Yes No Ensembl:ENSG00000172058, Ensembl:ENSG00000205572, GenAtlas:SERF1A, GeneCard:SERF1A, HGNC:HGNC:10755, HumanCyc Gene:HS10443, NCBI Gene:8293, OMIM:603011, RefSeq DNA:NT_006713, RefSeq Protein:NP_068802, RefSeq Protein:NP_075257, RefSeq RNA:NM_021967, RefSeq RNA:NM_022968, UCSC Genome Browser:NM_021967, UniProtKB:O75920 No chr5 70196490 70214357 70900663 70918530 +PA35676 728492 HGNC:10756 ENSG00000172058, ENSG00000205572 small EDRK-rich factor 1B SERF1B small EDRK-rich factor 1B (centromeric) FAM2B, H4F5C Yes No Ensembl:ENSG00000172058, Ensembl:ENSG00000205572, GenAtlas:SERF1B, GeneCard:SERF1B, HGNC:HGNC:10756, NCBI Gene:728492, RefSeq DNA:NT_006713, RefSeq Protein:NP_001171558, RefSeq Protein:NP_075267, RefSeq RNA:NM_001178087, RefSeq RNA:NM_022978, UCSC Genome Browser:NM_022978 No chr5 69321078 69338935 70025251 70043108 +PA35677 10169 HGNC:10757 ENSG00000140264 small EDRK-rich factor 2 SERF2 4F5REL, FAM2C, H4F5rel, HsT17089 Yes No Comparative Toxicogenomics Database:10169, Ensembl:ENSG00000140264, GenAtlas:SERF2, GeneCard:SERF2, HGNC:HGNC:10757, HumanCyc Gene:HS06692, NCBI Gene:10169, OMIM:605054, RefSeq DNA:NT_010194, RefSeq Protein:NP_001018118, RefSeq Protein:NP_001186804, RefSeq Protein:NP_001186805, RefSeq Protein:NP_001186806, RefSeq Protein:NP_001186807, RefSeq RNA:NM_001018108, RefSeq RNA:NM_001199875, RefSeq RNA:NM_001199876, RefSeq RNA:NM_001199877, RefSeq RNA:NM_001199878, RefSeq RNA:NR_037672, UCSC Genome Browser:NM_005770, UniProtKB:P84101 No chr15 44069294 44088287 43777096 43796089 +PA143485610 26297 HGNC:17499 ENSG00000129158 secretion regulating guanine nucleotide exchange factor SERGEF DelGEF, Gnefr Yes No Comparative Toxicogenomics Database:26297, Ensembl:ENSG00000129158, GeneCard:SERGEF, HGNC:HGNC:17499, HumanCyc Gene:HS05248, ModBase:Q9UGK8, NCBI Gene:26297, OMIM:606051, RefSeq DNA:NT_009237, RefSeq Protein:NP_036271, RefSeq RNA:NM_012139, UniProtKB:Q9UGK8 No chr11 17809595 18034709 17788048 18013162 +PA37878 94009 HGNC:14408 ENSG00000172250 serine hydrolase-like SERHL kraken-like BK126B4.1, HS126B42, dJ222E13.1 Yes No Comparative Toxicogenomics Database:94009, Ensembl:ENSG00000172250, GenAtlas:SERHL, GeneCard:SERHL, HGNC:HGNC:14408, HumanCyc Gene:HS10479, NCBI Gene:94009, OMIM:607979, RefSeq DNA:NT_011520, RefSeq Protein:NP_733795, RefSeq RNA:NM_170694, RefSeq RNA:NR_027786, UCSC Genome Browser:NM_014509, UCSC Genome Browser:NM_170694 No chr22 42896585 42908566 42500579 42512560 +PA142670935 253190 HGNC:29446 ENSG00000183569 serine hydrolase like 2 SERHL2 serine hydrolase-like 2 Yes No Ensembl:ENSG00000183569, GeneCard:SERHL2, HGNC:HGNC:29446, NCBI Gene:253190, RefSeq DNA:NT_011520, RefSeq Protein:NP_055324, RefSeq RNA:NM_014509, UniProtKB:Q9H4I8 No chr22 42949858 42970703 42553857 42574382 +PA134973249 57515 HGNC:13464 ENSG00000111897 serine incorporator 1 SERINC1 KIAA1253, TDE1L, TDE2, TMS-2 Yes No Ensembl:ENSG00000111897, GeneCard:SERINC1, HGNC:HGNC:13464, HumanCyc Gene:HS03483, NCBI Gene:57515, RefSeq DNA:NT_025741, RefSeq Protein:NP_065806, RefSeq RNA:NM_020755, UniProtKB:Q9NRX5 No chr6 122764493 122793051 122443348 122471881 +PA134933002 347735 HGNC:23231 ENSG00000168528 serine incorporator 2 SERINC2 FKSG84, PRO0899, TDE2, TDE2L Yes No Comparative Toxicogenomics Database:347735, Ensembl:ENSG00000168528, GeneCard:SERINC2, HGNC:HGNC:23231, NCBI Gene:347735, RefSeq DNA:NT_032977, RefSeq Protein:NP_001185966, RefSeq Protein:NP_001185967, RefSeq Protein:NP_001185968, RefSeq Protein:NP_061035, RefSeq Protein:NP_849196, RefSeq RNA:NM_001199037, RefSeq RNA:NM_001199038, RefSeq RNA:NM_001199039, RefSeq RNA:NM_018565, RefSeq RNA:NM_178865, UniProtKB:Q96SA4 No chr1 31882412 31907527 31409565 31434680 +PA36418 10955 HGNC:11699 ENSG00000132824 serine incorporator 3 SERINC3 AIGP1, DIFF33, SBBI99, TDE, TDE1, TMS-1 Yes No Comparative Toxicogenomics Database:10955, Ensembl:ENSG00000132824, GenAtlas:SERINC3, GeneCard:SERINC3, HGNC:HGNC:11699, HumanCyc Gene:HS05693, NCBI Gene:10955, OMIM:607165, RefSeq DNA:NT_011362, RefSeq Protein:NP_006802, RefSeq Protein:NP_945179, RefSeq RNA:NM_006811, RefSeq RNA:NM_198941, UCSC Genome Browser:NM_006811, UniProtKB:Q13530 No chr20 43124864 43150726 44496221 44522116 +PA142670936 619189 HGNC:32237 ENSG00000184716 serine incorporator 4 SERINC4 FLJ40363 Yes No Ensembl:ENSG00000184716, GeneCard:SERINC4, HGNC:HGNC:32237, NCBI Gene:619189, RefSeq DNA:NT_010194, RefSeq Protein:NP_001028689, RefSeq RNA:NM_001033517, UniProtKB:A6NH21 No chr15 44086372 44092295 43794174 43800097 +PA38698 256987 HGNC:18825 ENSG00000164300 serine incorporator 5 SERINC5 C5orf12, TPO1 Yes Yes Comparative Toxicogenomics Database:256987, Ensembl:ENSG00000164300, GenAtlas:SERINC5, GeneCard:SERINC5, HGNC:HGNC:18825, NCBI Gene:256987, RefSeq DNA:NT_006713, RefSeq Protein:NP_001167542, RefSeq Protein:NP_001167543, RefSeq Protein:NP_840060, RefSeq RNA:NM_001174071, RefSeq RNA:NM_001174072, RefSeq RNA:NM_178276, UniProtKB:B4DMH7, UniProtKB:Q86VE9 No chr5 79407050 79551898 80111227 80256082 +PA162402942 27230 HGNC:10759 ENSG00000120742 stress associated endoplasmic reticulum protein 1 SERP1 ribosome associated membrane protein 4, stress-associated endoplasmic reticulum protein 1 FLJ43424, RAMP4 Yes No Ensembl:ENSG00000120742, GeneCard:SERP1, HGNC:HGNC:10759, HumanCyc Gene:HS04432, NCBI Gene:27230, RefSeq DNA:NT_005612, RefSeq Protein:NP_055260, RefSeq RNA:NM_014445, UniProtKB:Q9Y6X1 No chr3 150259780 150264428 150541993 150603177 +PA162402953 387923 HGNC:20607 ENSG00000151778 stress associated endoplasmic reticulum protein family member 2 SERP2 stress-associated endoplasmic reticulum protein family member 2 C13orf21, bA269C23.1 Yes No Ensembl:ENSG00000151778, GeneCard:SERP2, HGNC:HGNC:20607, NCBI Gene:387923, RefSeq DNA:NT_024524, RefSeq Protein:NP_001010897, RefSeq RNA:NM_001010897, UniProtKB:Q8N6R1 No chr13 44947978 44971850 44373842 44397714 +PA35509 5265 HGNC:8941 ENSG00000197249 serpin family A member 1 SERPINA1 """alpha-1 antitrypsin"", ""alpha-1 proteinase inhibitor"", ""anti-elastase"", ""protease inhibitor 1"", ""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1""" A1A, A1AT, AAT, PI, PI1, alpha-1-antitrypsin, alpha1AT Yes Yes Comparative Toxicogenomics Database:5265, Ensembl:ENSG00000197249, GenAtlas:SERPINA1, GeneCard:SERPINA1, HGNC:HGNC:8941, ModBase:Q86U18, NCBI Gene:5265, OMIM:107400, OMIM:606963, RefSeq DNA:NG_008290, RefSeq DNA:NT_026437, RefSeq Protein:NP_000286, RefSeq Protein:NP_001002235, RefSeq Protein:NP_001002236, RefSeq Protein:NP_001121172, RefSeq Protein:NP_001121173, RefSeq Protein:NP_001121174, RefSeq Protein:NP_001121175, RefSeq Protein:NP_001121176, RefSeq Protein:NP_001121177, RefSeq Protein:NP_001121178, RefSeq Protein:NP_001121179, RefSeq RNA:NM_000295, RefSeq RNA:NM_001002235, RefSeq RNA:NM_001002236, RefSeq RNA:NM_001127700, RefSeq RNA:NM_001127701, RefSeq RNA:NM_001127702, RefSeq RNA:NM_001127703, RefSeq RNA:NM_001127704, RefSeq RNA:NM_001127705, RefSeq RNA:NM_001127706, RefSeq RNA:NM_001127707, UCSC Genome Browser:NM_000295, UniProtKB:P01009 No chr14 94843084 94857029 94376747 94390692 +PA38078 51156 HGNC:15996 ENSG00000140093 serpin family A member 10 SERPINA10 """Protein-Z dependent proteinase inhibitor"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10""" PZI, ZPI Yes No Comparative Toxicogenomics Database:51156, Ensembl:ENSG00000140093, GenAtlas:SERPINA10, GeneCard:SERPINA10, HGNC:HGNC:15996, HumanCyc Gene:HS06684, ModBase:Q9UK55, NCBI Gene:51156, OMIM:605271, RefSeq DNA:NG_021202, RefSeq DNA:NT_026437, RefSeq Protein:NP_001094077, RefSeq Protein:NP_057270, RefSeq RNA:NM_001100607, RefSeq RNA:NM_016186, UCSC Genome Browser:NM_016186, UniProtKB:Q9UK55 No chr14 94749648 94759608 94280460 94293353 +PA134988362 256394 HGNC:19193 ENSG00000186910 serpin family A member 11 SERPINA11 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 Yes No Ensembl:ENSG00000186910, GeneCard:SERPINA11, HGNC:HGNC:19193, ModBase:Q86U17, NCBI Gene:256394, RefSeq DNA:NT_026437, RefSeq Protein:NP_001073920, RefSeq RNA:NM_001080451, UniProtKB:Q86U17 No chr14 94908801 94919122 94442438 94452857 +PA134863157 145264 HGNC:18359 ENSG00000165953 serpin family A member 12 SERPINA12 """serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"", ""visceral adipose tissue-derived serine protease inhibitor""" OL-64, Vaspin Yes No Comparative Toxicogenomics Database:145264, Ensembl:ENSG00000165953, GeneCard:SERPINA12, HGNC:HGNC:18359, HumanCyc Gene:HS15387, ModBase:Q8IW75, NCBI Gene:145264, RefSeq DNA:NT_026437, RefSeq Protein:NP_776249, RefSeq RNA:NM_173850, UniProtKB:Q8IW75 No chr14 94953611 94984181 94481651 94517844 +PA134904731 388007 HGNC:30909 ENSG00000187483 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene SERPINA13P UNQ6121 Yes No Ensembl:ENSG00000187483, GeneCard:SERPINA13, HGNC:HGNC:30909, ModBase:Q6UXR4, NCBI Gene:388007, RefSeq DNA:NT_026437, RefSeq RNA:NR_015340 No chr14 95107062 95113331 94640725 94646994 +PA35520 390502 HGNC:8985 ENSG00000258597 serpin family A member 2 (gene/pseudogene) SERPINA2 """alpha-1 antitrypsin-related protein"", ""protease inhibitor 1 (alpha-1-antitrypsin)-like"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene)"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2, pseudogene""" ARGS, ATR, PIL, SERPINA2P Yes No Ensembl:ENSG00000258597, GenAtlas:SERPINA2, GeneCard:SERPINA2, HGNC:HGNC:8985, ModBase:P20848, NCBI Gene:390502, OMIM:107410, RefSeq DNA:NT_026437, RefSeq RNA:XR_041181, RefSeq RNA:XR_041182, RefSeq RNA:XR_041183, RefSeq RNA:XR_110240, UCSC Genome Browser:NM_006220 No chr14 94830651 94833039 94364318 94366702 +PA35020 12 HGNC:16 ENSG00000196136 serpin family A member 3 SERPINA3 """alpha-1 antichymotrypsin"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3""" AACT, ACT, alpha-1-antichymotrypsin Yes Yes Comparative Toxicogenomics Database:12, Ensembl:ENSG00000196136, GenAtlas:SERPINA3, GeneCard:SERPINA3, HGNC:HGNC:16, HumanCyc Gene:HS02134, ModBase:Q6NSC9, NCBI Gene:12, OMIM:107280, RefSeq DNA:NG_012879, RefSeq DNA:NT_026437, RefSeq Protein:NP_001076, RefSeq RNA:NM_001085, UCSC Genome Browser:NM_001085, UniProtKB:P01011 No chr14 95078639 95090395 94612377 94624053 +PA35514 5267 HGNC:8948 ENSG00000100665 serpin family A member 4 SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 KAL, KLST, KST, PI4, kallistatin Yes No Comparative Toxicogenomics Database:5267, Ensembl:ENSG00000100665, GenAtlas:SERPINA4, GeneCard:SERPINA4, HGNC:HGNC:8948, HumanCyc Gene:HS10057, ModBase:P29622, NCBI Gene:5267, OMIM:147935, RefSeq DNA:NT_026437, RefSeq Protein:NP_006206, RefSeq RNA:NM_006215, UCSC Genome Browser:NM_006215, UniProtKB:P29622 No chr14 95027779 95036243 94561420 94569913 +PA35505 5104 HGNC:8723 ENSG00000188488 serpin family A member 5 SERPINA5 """Protein C inhibitor"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5""" PAI3, PCI, PLANH3, PROCI Yes Yes Comparative Toxicogenomics Database:5104, Ensembl:ENSG00000188488, GenAtlas:SERPINA5, GeneCard:SERPINA5, HGNC:HGNC:8723, ModBase:P05154, NCBI Gene:5104, OMIM:601841, RefSeq DNA:NT_026437, RefSeq Protein:NP_000615, RefSeq RNA:NM_000624, UCSC Genome Browser:NM_000624 No chr14 95047706 95059457 94581369 94593120 +PA35033 866 HGNC:1540 ENSG00000170099 serpin family A member 6 SERPINA6 """corticosteroid binding globulin"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"", ""transcortin""" CBG Yes Yes Comparative Toxicogenomics Database:866, Ensembl:ENSG00000170099, GenAtlas:SERPINA6, GeneCard:SERPINA6, HGNC:HGNC:1540, HumanCyc Gene:HS10068, ModBase:P08185, NCBI Gene:866, OMIM:122500, OMIM:611489, RefSeq DNA:NG_011796, RefSeq DNA:NT_026437, RefSeq Protein:NP_001747, RefSeq RNA:NM_001756, UCSC Genome Browser:NM_001756, UniProtKB:P08185 No chr14 94770585 94789688 94304248 94323351 +PA36347 6906 HGNC:11583 ENSG00000123561 serpin family A member 7 SERPINA7 """alpha-1 antiproteinase, antitrypsin"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"", ""thyroxin-binding globulin"", ""thyroxine-binding globulin""" TBG Yes No Comparative Toxicogenomics Database:6906, Ensembl:ENSG00000123561, GenAtlas:SERPINA7, GeneCard:SERPINA7, HGNC:HGNC:11583, HumanCyc Gene:HS04670, ModBase:P05543, NCBI Gene:6906, OMIM:314200, RefSeq DNA:NG_021252, RefSeq DNA:NT_011651, RefSeq Protein:NP_000345, RefSeq RNA:NM_000354, UCSC Genome Browser:NM_000354, UniProtKB:P05543 No chrX 105277190 105282718 106032439 106038727 +PA38077 327657 HGNC:15995 ENSG00000170054 serpin family A member 9 SERPINA9 """CENTERIN"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9""" GCET1, SERPINA11b Yes No Comparative Toxicogenomics Database:327657, Ensembl:ENSG00000170054, GenAtlas:SERPINA9, GeneCard:SERPINA9, HGNC:HGNC:15995, NCBI Gene:327657, RefSeq DNA:NT_026437, RefSeq Protein:NP_001035983, RefSeq Protein:NP_783866, RefSeq RNA:NM_001042518, RefSeq RNA:NM_175739, UniProtKB:Q86WD7 No chr14 94929058 94942670 94462721 94476333 +PA35046 1992 HGNC:3311 ENSG00000021355 serpin family B member 1 SERPINB1 """leukocyte elastase inhibitor"", ""monocyte/neutrophil elastase inhibitor"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 1""" EI, ELANH2, LEI, MNEI, PI2, anti-elastase Yes No Comparative Toxicogenomics Database:1992, Ensembl:ENSG00000021355, GenAtlas:SERPINB1, GeneCard:SERPINB1, HGNC:HGNC:3311, HumanCyc Gene:HS00407, ModBase:P30740, NCBI Gene:1992, OMIM:130135, RefSeq DNA:NT_007592, RefSeq Protein:NP_109591, RefSeq RNA:NM_030666, UCSC Genome Browser:NM_030666, UniProtKB:P30740 No chr6 2832566 2842283 2832332 2842049 +PA35510 5273 HGNC:8942 ENSG00000242550 serpin family B member 10 SERPINB10 """protease inhibitor 10 (ovalbumin type)"", ""protease inhibitor 10 (ovalbumin type, bomapin)"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 10""" PI10, bomapin Yes No Comparative Toxicogenomics Database:5273, Ensembl:ENSG00000242550, GenAtlas:SERPINB10, GeneCard:SERPINB10, HGNC:HGNC:8942, ModBase:P48595, NCBI Gene:5273, OMIM:602058, RefSeq DNA:NT_025028, RefSeq Protein:NP_005015, RefSeq RNA:NM_005024, UCSC Genome Browser:NM_005024, UniProtKB:P48595 No chr18 61575224 61602948 63907969 63936111 +PA37860 89778 HGNC:14221 ENSG00000206072 serpin family B member 11 SERPINB11 """serpin family B member 11 (gene/pseudogene)"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)""" EPIPIN Yes No Comparative Toxicogenomics Database:89778, Ensembl:ENSG00000206072, GenAtlas:SERPINB11, GeneCard:SERPINB11, HGNC:HGNC:14221, ModBase:Q96P15, NCBI Gene:89778, RefSeq DNA:NT_025028, RefSeq Protein:NP_536723, RefSeq RNA:NM_080475, UCSC Genome Browser:NM_080475, UniProtKB:Q5Q123 No chr18 61370194 61391123 63702304 63723893 +PA37859 89777 HGNC:14220 ENSG00000166634 serpin family B member 12 SERPINB12 serpin peptidase inhibitor, clade B (ovalbumin), member 12 YUKOPIN Yes No Ensembl:ENSG00000166634, GenAtlas:SERPINB12, GeneCard:SERPINB12, HGNC:HGNC:14220, HumanCyc Gene:HS09431, ModBase:Q96P63, NCBI Gene:89777, RefSeq DNA:NT_025028, RefSeq Protein:NP_536722, RefSeq RNA:NM_080474, UCSC Genome Browser:NM_080474, UniProtKB:Q96P63 No chr18 61223393 61234336 63519164 63569329 +PA35512 5275 HGNC:8944 ENSG00000197641 serpin family B member 13 SERPINB13 serpin peptidase inhibitor, clade B (ovalbumin), member 13 HUR7, PI13, headpin, hurpin Yes No Comparative Toxicogenomics Database:5275, Ensembl:ENSG00000197641, GenAtlas:SERPINB13, GeneCard:SERPINB13, HGNC:HGNC:8944, HumanCyc Gene:HS06861, ModBase:Q9UIV8, NCBI Gene:5275, OMIM:604445, RefSeq DNA:NT_025028, RefSeq Protein:NP_036529, RefSeq RNA:NM_012397, UCSC Genome Browser:NM_012397, UniProtKB:Q9UIV8 No chr18 61254431 61266433 63587206 63599199 +PA35500 5055 HGNC:8584 ENSG00000197632 serpin family B member 2 SERPINB2 """plasminogen-activator inhibitor"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 2""" HsT1201, PAI-2, PAI2, PLANH2 Yes No Comparative Toxicogenomics Database:5055, Ensembl:ENSG00000197632, GenAtlas:SERPINB2, GeneCard:SERPINB2, HGNC:HGNC:8584, HumanCyc Gene:HS09390, ModBase:P05120, NCBI Gene:5055, OMIM:173390, RefSeq DNA:NT_025028, RefSeq Protein:NP_001137290, RefSeq Protein:NP_002566, RefSeq RNA:NM_001143818, RefSeq RNA:NM_002575, UCSC Genome Browser:NM_002575, UniProtKB:P05120 No chr18 61554939 61571124 63887705 63903890 +PA35538 6317 HGNC:10569 ENSG00000057149 serpin family B member 3 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 HsT1196, SCC, SCCA1, T4-A Yes No Comparative Toxicogenomics Database:6317, Ensembl:ENSG00000057149, GenAtlas:SERPINB3, GeneCard:SERPINB3, HGNC:HGNC:10569, HumanCyc Gene:HS00705, ModBase:Q9BYF8, NCBI Gene:6317, OMIM:600517, RefSeq DNA:NT_025028, RefSeq Protein:NP_008850, RefSeq RNA:NM_006919, UCSC Genome Browser:NM_006919, UniProtKB:P29508 No chr18 61322431 61329259 63655197 63661963 +PA35539 6318 HGNC:10570 ENSG00000206073 serpin family B member 4 SERPINB4 """serpin peptidase inhibitor, clade B (ovalbumin), member 4"", ""squamous cell carcinoma antigen 2""" LEUPIN, PI11, SCCA-2, SCCA1, SCCA2 Yes No Comparative Toxicogenomics Database:6318, Ensembl:ENSG00000206073, GenAtlas:SERPINB4, GeneCard:SERPINB4, HGNC:HGNC:10570, HumanCyc Gene:HS09432, ModBase:P48594, NCBI Gene:6318, OMIM:600518, RefSeq DNA:NT_025028, RefSeq Protein:NP_002965, RefSeq RNA:NM_002974, UCSC Genome Browser:NM_002974, UniProtKB:P48594 No chr18 61304493 61311502 63637259 63644319 +PA35515 5268 HGNC:8949 ENSG00000206075 serpin family B member 5 SERPINB5 """protease inhibitor 5 (maspin)"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 5""" PI5, maspin Yes No Comparative Toxicogenomics Database:5268, Ensembl:ENSG00000206075, GenAtlas:SERPINB5, GeneCard:SERPINB5, HGNC:HGNC:8949, HumanCyc Gene:HS09430, ModBase:P36952, NCBI Gene:5268, OMIM:154790, RefSeq DNA:NT_025028, RefSeq Protein:NP_002630, RefSeq RNA:NM_002639, UCSC Genome Browser:NM_002639, UniProtKB:P36952 No chr18 61144144 61172318 63476911 63505085 +PA35516 5269 HGNC:8950 ENSG00000124570 serpin family B member 6 SERPINB6 """cytoplasmic antiproteinase"", ""placental thrombin inhibitor"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 6""" CAP, DFNB91, PI6, PTI Yes No Comparative Toxicogenomics Database:5269, Ensembl:ENSG00000124570, GenAtlas:SERPINB6, GeneCard:SERPINB6, HGNC:HGNC:8950, HumanCyc Gene:HS04797, ModBase:P35237, NCBI Gene:5269, OMIM:173321, OMIM:613453, RefSeq DNA:NT_007592, RefSeq Protein:NP_001182220, RefSeq Protein:NP_004559, RefSeq RNA:NM_001195291, RefSeq RNA:NM_004568, UCSC Genome Browser:NM_004568, UniProtKB:P35237 No chr6 2948393 2972399 2948159 2972165 +PA37825 8710 HGNC:13902 ENSG00000166396 serpin family B member 7 SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7 MEGSIN Yes No Ensembl:ENSG00000166396, GenAtlas:SERPINB7, GeneCard:SERPINB7, HGNC:HGNC:13902, HumanCyc Gene:HS09389, ModBase:O75635, NCBI Gene:8710, OMIM:603357, RefSeq DNA:NT_025028, RefSeq Protein:NP_001035237, RefSeq Protein:NP_003775, RefSeq RNA:NM_001040147, RefSeq RNA:NM_003784, UCSC Genome Browser:NM_003784, UniProtKB:O75635 No chr18 61420281 61472610 63753047 63805376 +PA35517 5271 HGNC:8952 ENSG00000166401 serpin family B member 8 SERPINB8 """cytoplasmic antiproteinase 2"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 8""" CAP2, PI8 Yes No Comparative Toxicogenomics Database:5271, Ensembl:ENSG00000166401, GenAtlas:SERPINB8, GeneCard:SERPINB8, HGNC:HGNC:8952, HumanCyc Gene:HS01407, ModBase:P50452, NCBI Gene:5271, OMIM:601697, RefSeq DNA:NT_025028, RefSeq Protein:NP_001027018, RefSeq Protein:NP_002631, RefSeq Protein:NP_942130, RefSeq RNA:NM_001031848, RefSeq RNA:NM_002640, RefSeq RNA:NM_198833, UCSC Genome Browser:NM_002640, UniProtKB:P50452, UniProtKB:Q8N178 No chr18 61637263 61656608 63970028 64019779 +PA35518 11029 HGNC:8953 ENSG00000217707 serpin peptidase inhibitor, clade B8 (ovalbumin) pseudogene 1 SERPINB8P1 Yes No Ensembl:ENSG00000217707, GenAtlas:SERPINBP1, GeneCard:SERPINB8P1, HGNC:HGNC:8953, NCBI Gene:11029, RefSeq DNA:NG_002645, RefSeq DNA:NT_007592, RefSeq DNA:NT_034880 No chr6 3049072 3049468 3048838 3049234 +PA35519 5272 HGNC:8955 ENSG00000170542 serpin family B member 9 SERPINB9 """cytoplasmic antiproteinase 3"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 9""" CAP3, PI9 Yes No Comparative Toxicogenomics Database:5272, Ensembl:ENSG00000170542, GenAtlas:SERPINB9, GeneCard:SERPINB9, HGNC:HGNC:8955, HumanCyc Gene:HS10146, ModBase:P50453, NCBI Gene:5272, OMIM:601799, RefSeq DNA:NT_007592, RefSeq Protein:NP_004146, RefSeq RNA:NM_004155, UCSC Genome Browser:NM_004155, UniProtKB:P50453 No chr6 2887499 2903546 2887265 2903318 +PA35026 462 HGNC:775 ENSG00000117601 serpin family C member 1 SERPINC1 """antithrombin (aa 375-432)"", ""antithrombin III"", ""coding sequence signal peptide antithrombin part 1"", ""serpin peptidase inhibitor, clade C (antithrombin), member 1"", ""signal peptide antithrombin part 1""" AT3, ATIII, MGC22579 Yes Yes Comparative Toxicogenomics Database:462, Ensembl:ENSG00000117601, GenAtlas:SERPINC1, GeneCard:SERPINC1, HGNC:HGNC:775, HumanCyc Gene:HS04156, ModBase:P01008, NCBI Gene:462, OMIM:107300, OMIM:613118, RefSeq DNA:NG_012462, RefSeq DNA:NT_004487, RefSeq Protein:NP_000479, RefSeq RNA:NM_000488, UCSC Genome Browser:NM_000488, UniProtKB:P01008 No chr1 173872938 173886516 173903804 173917378 +PA35053 3053 HGNC:4838 ENSG00000099937 serpin family D member 1 SERPIND1 """heparin cofactor 2"", ""heparin cofactor II"", ""serpin peptidase inhibitor, clade D (heparin cofactor), member 1""" D22S673, HC-II, HC2, HCF2, HLS2 Yes No Comparative Toxicogenomics Database:3053, Ensembl:ENSG00000099937, GenAtlas:SERPIND1, GeneCard:SERPIND1, HGNC:HGNC:4838, HumanCyc Gene:HS01931, ModBase:P05546, NCBI Gene:3053, OMIM:142360, OMIM:612356, RefSeq DNA:NG_012076, RefSeq DNA:NT_011520, RefSeq Protein:NP_000176, RefSeq RNA:NM_000185, UCSC Genome Browser:NM_000185, UniProtKB:P05546, UniProtKB:Q8IVC0 No chr22 21128383 21142008 20774095 20787720 +PA261 5054 HGNC:8583 ENSG00000106366 serpin family E member 1 SERPINE1 """plasminogen activator inhibitor, type I"", ""serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1""" PAI, PAI1, PLANH1 Yes Yes Comparative Toxicogenomics Database:5054, Ensembl:ENSG00000106366, GenAtlas:SERPINE1, GeneCard:SERPINE1, HGNC:HGNC:8583, HumanCyc Gene:HS02899, ModBase:P05121, NCBI Gene:5054, OMIM:173360, OMIM:613329, RefSeq DNA:NG_013213, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_000593, RefSeq Protein:NP_001158885, RefSeq RNA:NM_000602, RefSeq RNA:NM_001165413, UCSC Genome Browser:NM_000602, UniProtKB:B7Z4S0, UniProtKB:P05121 No chr7 100770370 100782547 101127087 101139266 +PA269 5270 HGNC:8951 ENSG00000135919 serpin family E member 2 SERPINE2 """glial-derived nexin 1"", ""serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2""" GDN, PI7, PN1, PNI, nexin Yes No Comparative Toxicogenomics Database:5270, Ensembl:ENSG00000135919, GenAtlas:SERPINE2, GeneCard:SERPINE2, HGNC:HGNC:8951, HumanCyc Gene:HS06085, ModBase:P07093, NCBI Gene:5270, OMIM:177010, RefSeq DNA:NT_005403, RefSeq Protein:NP_001130000, RefSeq Protein:NP_001130001, RefSeq Protein:NP_001130002, RefSeq Protein:NP_006207, RefSeq RNA:NM_001136528, RefSeq RNA:NM_001136529, RefSeq RNA:NM_001136530, RefSeq RNA:NM_006216, UCSC Genome Browser:NM_006216, UniProtKB:B4DIF2, UniProtKB:P07093 No chr2 224839765 224904036 223975048 224039319 +PA164725650 647174 HGNC:24774 ENSG00000253309 serpin family E member 3 SERPINE3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 Yes No Ensembl:ENSG00000253309, GeneCard:SERPINE3, HGNC:HGNC:24774, ModBase:A8MV23, NCBI Gene:647174, RefSeq DNA:NT_024524, RefSeq Protein:NP_001094790, RefSeq RNA:NM_001101320, UniProtKB:A8MV23 No chr13 51915168 51939555 51334976 51362391 +PA35508 5176 HGNC:8824 ENSG00000132386 serpin family F member 1 SERPINF1 """alpha-2 antiplasmin"", ""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"", ""serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1""" EPC-1, PEDF, PIG35 Yes Yes Comparative Toxicogenomics Database:5176, Ensembl:ENSG00000132386, GenAtlas:SERPINF1, GeneCard:SERPINF1, HGNC:HGNC:8824, HumanCyc Gene:HS05629, ModBase:P36955, NCBI Gene:5176, OMIM:172860, RefSeq DNA:NT_010718, RefSeq Protein:NP_002606, RefSeq RNA:NM_002615, UCSC Genome Browser:NM_002615, UniProtKB:P36955 No chr17 1665259 1680859 1761965 1777565 +PA35522 5345 HGNC:9075 ENSG00000167711 serpin family F member 2 SERPINF2 """alpha-2-antiplasmin"", ""alpha-2-plasmin inhibitor"", ""serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2""" A2AP, AAP, ALPHA-2-PI, API, PLI, alpha2AP Yes No Comparative Toxicogenomics Database:5345, Ensembl:ENSG00000167711, GenAtlas:SERPINF2, GeneCard:SERPINF2, HGNC:HGNC:9075, HumanCyc Gene:HS09613, ModBase:P08697, NCBI Gene:5345, OMIM:262850, OMIM:613168, RefSeq DNA:NG_013215, RefSeq DNA:NT_010718, RefSeq Protein:NP_000925, RefSeq Protein:NP_001159392, RefSeq Protein:NP_001159393, RefSeq RNA:NM_000934, RefSeq RNA:NM_001165920, RefSeq RNA:NM_001165921, UCSC Genome Browser:NM_000934, UniProtKB:B4E1B7, UniProtKB:P08697 No chr17 1646015 1658562 1742808 1755265 +PA35029 710 HGNC:1228 ENSG00000149131 serpin family G member 1 SERPING1 """C1-inhibitor"", ""angioedema, hereditary"", ""plasma protease C1 inhibitor"", ""serpin peptidase inhibitor, clade G (C1 inhibitor), member 1""" C1-INH, C1IN, C1INH, C1NH, HAE1, HAE2 Yes Yes Comparative Toxicogenomics Database:710, Ensembl:ENSG00000149131, GenAtlas:SERPING1, GeneCard:SERPING1, HGNC:HGNC:1228, HumanCyc Gene:HS07586, ModBase:Q96FE0, NCBI Gene:710, OMIM:106100, OMIM:120790, OMIM:606860, RefSeq DNA:NG_009625, RefSeq DNA:NT_167190, RefSeq Protein:NP_000053, RefSeq Protein:NP_001027466, RefSeq RNA:NM_000062, RefSeq RNA:NM_001032295, UCSC Genome Browser:NM_000062, UniProtKB:P05155 No chr11 57365027 57382326 57597554 57614853 +PA35034 871 HGNC:1546 ENSG00000149257 serpin family H member 1 SERPINH1 """collagen binding protein 1"", ""colligin"", ""heat shock protein 47"", ""serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)""" CBP1, CBP2, HSP47, SERPINH2, colligen Yes No Comparative Toxicogenomics Database:871, Ensembl:ENSG00000149257, GenAtlas:SERPINH1, GeneCard:SERPINH1, HGNC:HGNC:1546, HumanCyc Gene:HS07596, ModBase:P29043, ModBase:P50454, NCBI Gene:871, OMIM:600943, OMIM:610504, RefSeq DNA:NG_012052, RefSeq DNA:NT_167190, RefSeq Protein:NP_001193943, RefSeq Protein:NP_001226, RefSeq RNA:NM_001207014, RefSeq RNA:NM_001235, UCSC Genome Browser:NM_001235, UCSC Genome Browser:NM_004353, UniProtKB:P50454 No chr11 75273101 75283849 75562056 75572804 +PA134980516 158172 HGNC:19917 ENSG00000229207 serpin peptidase inhibitor, clade H1, pseudogene 1 SERPINH1P1 bA571F15.6, pshsp47 Yes No Ensembl:ENSG00000229207, HGNC:HGNC:19917, NCBI Gene:158172, RefSeq DNA:NG_006020, RefSeq DNA:NT_008413 No chr9 34318264 34320329 34318266 34320331 +PA35511 5274 HGNC:8943 ENSG00000163536 serpin family I member 1 SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 PI12, neuroserpin Yes No Comparative Toxicogenomics Database:5274, Ensembl:ENSG00000163536, GenAtlas:SERPINI1, GeneCard:SERPINI1, HGNC:HGNC:8943, HumanCyc Gene:HS08875, ModBase:Q99574, NCBI Gene:5274, OMIM:602445, OMIM:604218, RefSeq DNA:NG_008217, RefSeq DNA:NT_005612, RefSeq Protein:NP_001116224, RefSeq Protein:NP_005016, RefSeq RNA:NM_001122752, RefSeq RNA:NM_005025, UCSC Genome Browser:NM_005025, UniProtKB:Q99574 No chr3 167453432 167543357 167735335 167825569 +PA35513 5276 HGNC:8945 ENSG00000114204 serpin family I member 2 SERPINI2 """myoepithelium-derived serine proteinase inhibitor"", ""serpin peptidase inhibitor, clade I (pancpin), member 2""" MEPI, PANCPIN, PI14, TSA2004, pancpin Yes No Ensembl:ENSG00000114204, GenAtlas:SERPINI2, GeneCard:SERPINI2, HGNC:HGNC:8945, HumanCyc Gene:HS03748, ModBase:O75830, NCBI Gene:5276, OMIM:605587, RefSeq DNA:NT_005612, RefSeq Protein:NP_006208, RefSeq RNA:NM_006217, UCSC Genome Browser:NM_006217, UniProtKB:O75830 No chr3 167159577 167196732 167441789 167474132 +PA134957023 29950 HGNC:17932 ENSG00000197019 SERTA domain containing 1 SERTAD1 CDK4-binding protein p34SEI, transcriptional regulator interacting with the PHD-bromodomain 1 SEI1, TRIP-Br1 Yes No Comparative Toxicogenomics Database:29950, Ensembl:ENSG00000197019, GeneCard:SERTAD1, HGNC:HGNC:17932, ModBase:Q9UHV2, NCBI Gene:29950, RefSeq DNA:NT_011109, RefSeq Protein:NP_037508, RefSeq RNA:NM_013376, UniProtKB:Q53GC0, UniProtKB:Q9UHV2 No chr19 40928408 40931932 40422501 40426025 +PA134948884 9792 HGNC:30784 ENSG00000179833 SERTA domain containing 2 SERTAD2 transcriptional regulator interacting with the PHS-bromodomain 2 KIAA0127, Sei-2, TRIP-Br2 Yes No Comparative Toxicogenomics Database:9792, Ensembl:ENSG00000179833, GeneCard:SERTAD2, HGNC:HGNC:30784, HumanCyc Gene:HS17362, ModBase:Q14140, NCBI Gene:9792, RefSeq DNA:NT_022184, RefSeq Protein:NP_055570, RefSeq RNA:NM_014755, UniProtKB:Q14140 No chr2 64858755 64978048 64631621 64751091 +PA134941720 29946 HGNC:17931 ENSG00000167565 SERTA domain containing 3 SERTAD3 RPA-binding trans-activator RBT1 Yes No Ensembl:ENSG00000167565, GeneCard:SERTAD3, HGNC:HGNC:17931, HumanCyc Gene:HS15565, ModBase:Q9UJW9, NCBI Gene:29946, OMIM:612125, RefSeq DNA:NT_011109, RefSeq Protein:NP_037500, RefSeq Protein:NP_976219, RefSeq RNA:NM_013368, RefSeq RNA:NM_203344, UniProtKB:Q9UJW9 No chr19 40946748 40950282 40440841 40444375 +PA134897438 56256 HGNC:25236 ENSG00000082497 SERTA domain containing 4 SERTAD4 DJ667H12.2 Yes No Comparative Toxicogenomics Database:56256, Ensembl:ENSG00000082497, GeneCard:SERTAD4, HGNC:HGNC:25236, HumanCyc Gene:HS12270, ModBase:Q9NUC0, NCBI Gene:56256, RefSeq DNA:NT_167186, RefSeq Protein:NP_062551, RefSeq RNA:NM_019605, UniProtKB:Q9NUC0 No chr1 210406195 210420252 210232650 210247734 +PA142672451 574036 HGNC:32019 ENSG00000203706 SERTAD4 antisense RNA 1 SERTAD4-AS1 Yes No Ensembl:ENSG00000203706, GeneCard:C1orf133, HGNC:HGNC:32019, ModBase:Q5TG53, NCBI Gene:574036, RefSeq DNA:NT_167186, RefSeq RNA:NR_024337 No chr1 210404804 210407466 210231459 210234121 +PA162378085 400120 HGNC:33792 ENSG00000180440 serine rich and transmembrane domain containing 1 SERTM1 serine-rich and transmembrane domain containing 1 C13orf36 Yes No Ensembl:ENSG00000180440, GeneCard:C13orf36, HGNC:HGNC:33792, NCBI Gene:400120, RefSeq DNA:NT_024524, RefSeq Protein:NP_982276, RefSeq RNA:NM_203451, UniProtKB:A2A2V5 No chr13 37248049 37271976 36673912 36697839 +PA166181635 401613 HGNC:48576 ENSG00000260802 serine rich and transmembrane domain containing 2 SERTM2 CARdiac DEvelopment Long non-coding RNA CARDEL, LINC00890 Yes No Ensembl:ENSG00000260802, HGNC:HGNC:48576, NCBI Gene:401613 No 0 0 0 0 +PA134927596 27244 HGNC:21595 ENSG00000080546 sestrin 1 SESN1 PA26, SEST1 Yes No Comparative Toxicogenomics Database:27244, Ensembl:ENSG00000080546, GeneCard:SESN1, HGNC:HGNC:21595, HumanCyc Gene:HS01359, ModBase:Q9Y6P5, NCBI Gene:27244, OMIM:606103, RefSeq DNA:NT_025741, RefSeq Protein:NP_001186862, RefSeq Protein:NP_001186863, RefSeq Protein:NP_055269, RefSeq RNA:NM_001199933, RefSeq RNA:NM_001199934, RefSeq RNA:NM_014454, UniProtKB:Q9Y6P5 No chr6 109307640 109415708 108986437 109094505 +PA134882791 83667 HGNC:20746 ENSG00000130766 sestrin 2 SESN2 DKFZp761M0212, HI95, SES2, SEST2 Yes No Comparative Toxicogenomics Database:83667, Ensembl:ENSG00000130766, GeneCard:SESN2, HGNC:HGNC:20746, HumanCyc Gene:HS05439, ModBase:P58004, NCBI Gene:83667, OMIM:607767, RefSeq DNA:NT_004610, RefSeq Protein:NP_113647, RefSeq RNA:NM_031459, UniProtKB:P58004 No chr1 28585963 28609002 28259452 28282491 +PA134914983 143686 HGNC:23060 ENSG00000149212 sestrin 3 SESN3 MGC29667, SEST3 Yes No Comparative Toxicogenomics Database:143686, Ensembl:ENSG00000149212, GeneCard:SESN3, HGNC:HGNC:23060, HumanCyc Gene:HS07594, ModBase:P58005, NCBI Gene:143686, OMIM:607768, RefSeq DNA:NT_167190, RefSeq Protein:NP_653266, RefSeq RNA:NM_144665, UniProtKB:P58005 No chr11 94898677 94965705 95165513 95232541 +PA38534 91404 HGNC:18379 ENSG00000187231 SEC14 and spectrin domain containing 1 SESTD1 SEC14 and spectrin domains 1 DKFZp434O0515, Solo Yes No Comparative Toxicogenomics Database:91404, Ensembl:ENSG00000187231, GenAtlas:SESTD1, GeneCard:SESTD1, HGNC:HGNC:18379, ModBase:Q86VW0, NCBI Gene:91404, RefSeq DNA:NT_005403, RefSeq Protein:NP_835224, RefSeq RNA:NM_178123, UniProtKB:B3KTX3, UniProtKB:Q86VW0 No chr2 179966419 180129350 179101692 179264723 +PA35678 6418 HGNC:10760 ENSG00000119335 SET nuclear proto-oncogene SET """HLA-DR-associated protein II"", ""SET nuclear oncogene"", ""Template-Activating Factor-I"", ""Template-Activating Factor-I, chromatin remodelling factor"", ""chromatin remodelling factor"", ""inhibitor of granzyme A-activated DNase"", ""protein phosphatase type 2A inhibitor""" 2PP2A, IGAAD, IPP2A2, PHAPII, TAF-I, TAF-IBETA Yes No Comparative Toxicogenomics Database:6418, Ensembl:ENSG00000119335, GenAtlas:SET, GeneCard:SET, HGNC:HGNC:10760, HumanCyc Gene:HS04285, ModBase:Q01105, NCBI Gene:6418, OMIM:600960, RefSeq DNA:NT_008470, RefSeq Protein:NP_001116293, RefSeq Protein:NP_003002, RefSeq RNA:NM_001122821, RefSeq RNA:NM_003011, UCSC Genome Browser:NM_003011, UniProtKB:Q01105, UniProtKB:Q5VXV3 No chr9 131445934 131458675 128683432 128696396 +PA37982 26040 HGNC:15573 ENSG00000152217 SET binding protein 1 SETBP1 KIAA0437, SEB Yes No Comparative Toxicogenomics Database:26040, Ensembl:ENSG00000152217, GenAtlas:SETBP1, GeneCard:SETBP1, HGNC:HGNC:15573, HumanCyc Gene:HS07798, NCBI Gene:26040, OMIM:611060, RefSeq DNA:NT_010966, RefSeq Protein:NP_001123582, RefSeq Protein:NP_056374, RefSeq RNA:NM_001130110, RefSeq RNA:NM_015559, UCSC Genome Browser:NM_015559, UniProtKB:Q6P6C3, UniProtKB:Q9Y6X0 No chr18 42258849 42648475 44680173 45068510 +PA128394556 9739 HGNC:29010 ENSG00000099381 SET domain containing 1A, histone lysine methyltransferase SETD1A SET domain containing 1A KIAA0339, KMT2F, SET1A, Set1 Yes No Comparative Toxicogenomics Database:9739, Ensembl:ENSG00000099381, GeneCard:SETD1A, HGNC:HGNC:29010, ModBase:O15047, NCBI Gene:9739, OMIM:611052, RefSeq DNA:NT_010393, RefSeq Protein:NP_055527, RefSeq RNA:NM_014712, UniProtKB:O15047 No chr16 30968615 30995985 30956618 30984664 +PA143485611 23067 HGNC:29187 ENSG00000139718 SET domain containing 1B, histone lysine methyltransferase SETD1B SET domain containing 1B KIAA1076, KMT2G, Set1B Yes No Ensembl:ENSG00000139718, GeneCard:SETD1B, HGNC:HGNC:29187, NCBI Gene:23067, OMIM:611055, RefSeq DNA:NT_009775, RefSeq Protein:NP_055863, RefSeq RNA:NM_015048, UniProtKB:Q9UPS6 No chr12 122241879 122270562 121803665 121832656 +PA143485612 29072 HGNC:18420 ENSG00000181555 SET domain containing 2, histone lysine methyltransferase SETD2 SET domain containing 2 FLJ23184, HIF-1, HYPB, KIAA1732, KMT3A Yes No Comparative Toxicogenomics Database:29072, Ensembl:ENSG00000181555, GeneCard:SETD2, HGNC:HGNC:18420, ModBase:Q6ZN53, NCBI Gene:29072, OMIM:612778, RefSeq DNA:NT_022517, RefSeq Protein:NP_054878, RefSeq RNA:NM_014159, UniProtKB:Q9BYW2 No chr3 47057898 47205467 47016408 47164109 +PA134883013 84193 HGNC:20493 ENSG00000183576 SET domain containing 3, actin N3(tau)-histidine methyltransferase SETD3 """SET domain containing 3"", ""SET domain containing 3, actin histidine methyltransferase""" C14orf154, FLJ23027 Yes No Comparative Toxicogenomics Database:84193, Ensembl:ENSG00000183576, GeneCard:SETD3, HGNC:HGNC:20493, ModBase:Q86TU7, NCBI Gene:84193, RefSeq DNA:NT_026437, RefSeq Protein:NP_115609, RefSeq Protein:NP_954574, RefSeq RNA:NM_032233, RefSeq RNA:NM_199123, UniProtKB:A0PJU3, UniProtKB:Q86TU7 No chr14 99864083 99947228 99397746 99486458 +PA25814 54093 HGNC:1258 ENSG00000185917 SET domain containing 4 SETD4 C21orf18, C21orf27 Yes Yes Ensembl:ENSG00000185917, GenAtlas:SETD4, GeneCard:SETD4, HGNC:HGNC:1258, ModBase:Q9NVD3, NCBI Gene:54093, RefSeq DNA:NT_011512, RefSeq Protein:NP_001007260, RefSeq Protein:NP_059134, RefSeq RNA:NM_001007259, RefSeq RNA:NM_017438, RefSeq RNA:NR_040086, RefSeq RNA:NR_040087, RefSeq RNA:NR_040088, UCSC Genome Browser:NM_017438, UniProtKB:Q9NVD3 No chr21 37406839 37432869 36034541 36060818 +PA143485613 55209 HGNC:25566 ENSG00000168137 SET domain containing 5 SETD5 FLJ10707, SETD5A Yes No Comparative Toxicogenomics Database:55209, Ensembl:ENSG00000168137, GeneCard:SETD5, HGNC:HGNC:25566, HumanCyc Gene:HS15639, ModBase:Q9C0A6, NCBI Gene:55209, RefSeq DNA:NT_022517, RefSeq Protein:NP_001073986, RefSeq RNA:NM_001080517, UniProtKB:Q9C0A6 No chr3 9439384 9519838 9397700 9478154 +PA143485614 79918 HGNC:26116 ENSG00000103037 SET domain containing 6, protein lysine methyltransferase SETD6 SET domain containing 6 FLJ21148 Yes No Ensembl:ENSG00000103037, GeneCard:SETD6, HGNC:HGNC:26116, HumanCyc Gene:HS12507, ModBase:Q8TBK2, NCBI Gene:79918, RefSeq DNA:NT_010498, RefSeq Protein:NP_001153777, RefSeq Protein:NP_079136, RefSeq RNA:NM_001160305, RefSeq RNA:NM_024860, UniProtKB:Q8TBK2 No chr16 58549383 58554431 58515479 58521961 +PA143485615 80854 HGNC:30412 ENSG00000145391 SET domain containing 7, histone lysine methyltransferase SETD7 SET domain containing (lysine methyltransferase) 7 KIAA1717, KMT7, SET7, SET7/9, Set9 Yes No Comparative Toxicogenomics Database:80854, Ensembl:ENSG00000145391, GeneCard:SETD7, HGNC:HGNC:30412, HumanCyc Gene:HS07252, ModBase:Q8WTS6, NCBI Gene:80854, OMIM:606594, RefSeq DNA:NT_016354, RefSeq Protein:NP_085151, RefSeq RNA:NM_030648, UniProtKB:Q8WTS6 No chr4 140427192 140477577 139495934 139556769 +PA162380099 133383 HGNC:28508 ENSG00000155542 SET domain containing 9 SETD9 C5orf35, MGC33648 Yes No Ensembl:ENSG00000155542, GeneCard:C5orf35, HGNC:HGNC:28508, HumanCyc Gene:HS14570, ModBase:Q8NE22, NCBI Gene:133383, RefSeq DNA:NT_006713, RefSeq Protein:NP_001165461, RefSeq Protein:NP_714917, RefSeq RNA:NM_001171990, RefSeq RNA:NM_153706, UniProtKB:Q8NE22 No chr5 56205087 56221359 56909260 56928900 +PA35679 9869 HGNC:10761 ENSG00000143379 SET domain bifurcated histone lysine methyltransferase 1 SETDB1 """SET domain, bifurcated 1"", ""tudor domain containing 21""" ESET, KG1T, KIAA0067, KMT1E, TDRD21 Yes No Ensembl:ENSG00000143379, GenAtlas:SETDB1, GeneCard:SETDB1, HGNC:HGNC:10761, HumanCyc Gene:HS07042, ModBase:Q15047, NCBI Gene:9869, OMIM:604396, RefSeq DNA:NT_004487, RefSeq Protein:NP_001138887, RefSeq Protein:NP_036564, RefSeq RNA:NM_001145415, RefSeq RNA:NM_012432, RefSeq RNA:NR_026977, UCSC Genome Browser:NM_012432, UniProtKB:Q15047 No chr1 150898815 150937389 150926246 150964744 +PA134956285 83852 HGNC:20263 ENSG00000136169 SET domain bifurcated histone lysine methyltransferase 2 SETDB2 SET domain, bifurcated 2 C13orf4, CLLD8, CLLL8, KMT1F Yes No Comparative Toxicogenomics Database:83852, Ensembl:ENSG00000136169, GeneCard:SETDB2, HGNC:HGNC:20263, HumanCyc Gene:HS06128, ModBase:Q96T68, NCBI Gene:83852, OMIM:607865, RefSeq DNA:NT_024524, RefSeq Protein:NP_001153780, RefSeq Protein:NP_114121, RefSeq RNA:NM_001160308, RefSeq RNA:NM_031915, UniProtKB:Q96T68 No chr13 50018429 50069139 49444293 49495003 +PA35680 6419 HGNC:10762 ENSG00000170364 SET domain and mariner transposase fusion gene SETMAR metnase Yes No Ensembl:ENSG00000170364, GenAtlas:SETMAR, GeneCard:SETMAR, HGNC:HGNC:10762, HumanCyc Gene:HS10111, ModBase:Q53H47, NCBI Gene:6419, OMIM:609834, RefSeq DNA:NT_022517, RefSeq Protein:NP_006506, RefSeq RNA:NM_006515, RefSeq RNA:NR_024022, UCSC Genome Browser:NM_006515, UniProtKB:Q53H47 No chr3 4344988 4358949 4303304 4320649 +PA142670931 100133314 HGNC:19279 ENSG00000258863 SET pseudogene 1 SETP1 SETP Yes No Ensembl:ENSG00000258863, GeneCard:SETP1, HGNC:HGNC:19279, NCBI Gene:100133314 No chr14 20996272 20997119 20528113 20528960 +PA134878560 326277 HGNC:20032 ENSG00000258893 SET pseudogene 2 SETP2 Yes No Ensembl:ENSG00000258893, GeneCard:SETP2, HGNC:HGNC:20032, NCBI Gene:326277, RefSeq DNA:NG_002537, RefSeq DNA:NT_026437 No chr14 51902687 51906031 51436150 51439313 +PA142670932 619349 HGNC:31115 ENSG00000266648 SET pseudogene 3 SETP3 Yes No Ensembl:ENSG00000266648, GeneCard:SETP3, HGNC:HGNC:31115, NCBI Gene:619349 No chr17 56553552 56554313 58475991 58477102 +PA166123735 646817 HGNC:42937 ENSG00000230667 SET like protein SETSIP SET similar protein, SET-like protein SETP18 Yes No Ensembl:ENSG00000230667, HGNC:HGNC:42937, NCBI Gene:646817 No +PA24751 23064 HGNC:445 ENSG00000107290 senataxin SETX ALS4, AOA2, KIAA0625, SCAR1, STEX, Sen1 Yes No Comparative Toxicogenomics Database:23064, Ensembl:ENSG00000107290, GenAtlas:SETX, GeneCard:SETX, HGNC:HGNC:445, HumanCyc Gene:HS12654, NCBI Gene:23064, OMIM:602433, OMIM:606002, OMIM:608465, RefSeq DNA:NG_007946, RefSeq DNA:NT_035014, RefSeq Protein:NP_055861, RefSeq RNA:NM_015046, UniProtKB:Q7Z333 No chr9 135136827 135232113 132261440 132356726 +PA38065 124925 HGNC:15955 ENSG00000063015 seizure related 6 homolog SEZ6 seizure related 6 homolog (mouse) Yes No Comparative Toxicogenomics Database:124925, Ensembl:ENSG00000063015, GenAtlas:SEZ6, GeneCard:SEZ6, HGNC:HGNC:15955, HumanCyc Gene:HS12160, ModBase:Q53EL9, NCBI Gene:124925, RefSeq DNA:NT_010799, RefSeq Protein:NP_001092105, RefSeq Protein:NP_849191, RefSeq RNA:NM_001098635, RefSeq RNA:NM_178860, UCSC Genome Browser:NM_178860, UniProtKB:Q53EL9 No chr17 27281923 27333458 28954905 29006440 +PA35681 23544 HGNC:10763 ENSG00000100095 seizure related 6 homolog like SEZ6L seizure related 6 homolog (mouse)-like SEZ6L1 Yes No Ensembl:ENSG00000100095, GenAtlas:SEZ6L, GeneCard:SEZ6L, HGNC:HGNC:10763, HumanCyc Gene:HS01975, ModBase:Q9NUI5, NCBI Gene:23544, OMIM:607021, RefSeq DNA:NT_011520, RefSeq Protein:NP_001171702, RefSeq Protein:NP_001171703, RefSeq Protein:NP_001171704, RefSeq Protein:NP_001171705, RefSeq Protein:NP_001171706, RefSeq Protein:NP_066938, RefSeq RNA:NM_001184773, RefSeq RNA:NM_001184774, RefSeq RNA:NM_001184775, RefSeq RNA:NM_001184776, RefSeq RNA:NM_001184777, RefSeq RNA:NM_021115, UCSC Genome Browser:NM_021115, UniProtKB:B0QYG3, UniProtKB:B7ZLJ8, UniProtKB:Q9BYH1 No chr22 26565440 26779563 26169474 26383597 +PA134924025 26470 HGNC:30844 ENSG00000174938 seizure related 6 homolog like 2 SEZ6L2 seizure related 6 homolog (mouse)-like 2, type I transmembrane receptor (seizure related protein) FLJ90517, PSK-1 Yes No Comparative Toxicogenomics Database:26470, Ensembl:ENSG00000174938, GeneCard:SEZ6L2, HGNC:HGNC:30844, HumanCyc Gene:HS10849, ModBase:Q6UXD5, NCBI Gene:26470, RefSeq DNA:NT_010393, RefSeq Protein:NP_001107571, RefSeq Protein:NP_001107572, RefSeq Protein:NP_036542, RefSeq Protein:NP_963869, RefSeq RNA:NM_001114099, RefSeq RNA:NM_001114100, RefSeq RNA:NM_012410, RefSeq RNA:NM_201575, UniProtKB:Q6UXD5, UniProtKB:Q9BW82 No chr16 29882480 29910585 29871159 29899573 +PA37533 7536 HGNC:12950 ENSG00000168066 splicing factor 1 SF1 branch point-binding protein BBP, ZCCHC25, ZFM1, ZNF162 Yes No Comparative Toxicogenomics Database:7536, Ensembl:ENSG00000168066, GenAtlas:SF1, GeneCard:SF1, HGNC:HGNC:12950, HumanCyc Gene:HS09688, ModBase:Q9BW01, NCBI Gene:7536, OMIM:601516, RefSeq DNA:NG_021399, RefSeq DNA:NT_167190, RefSeq Protein:NP_001171501, RefSeq Protein:NP_001171502, RefSeq Protein:NP_004621, RefSeq Protein:NP_973724, RefSeq Protein:NP_973726, RefSeq Protein:NP_973727, RefSeq RNA:NM_001178030, RefSeq RNA:NM_001178031, RefSeq RNA:NM_004630, RefSeq RNA:NM_201995, RefSeq RNA:NM_201997, RefSeq RNA:NM_201998, RefSeq RNA:NR_033649, RefSeq RNA:NR_033650, UCSC Genome Browser:NM_004630, UniProtKB:B7Z1Q1, UniProtKB:Q15637 No chr11 64532076 64546515 64764604 64779043 +PA35683 10291 HGNC:10765 ENSG00000099995 splicing factor 3a subunit 1 SF3A1 splicing factor 3a, subunit 1, 120kDa PRPF21, Prp21, SAP114, SF3a120 Yes No Comparative Toxicogenomics Database:10291, Ensembl:ENSG00000099995, GenAtlas:SF3A1, GeneCard:SF3A1, HGNC:HGNC:10765, HumanCyc Gene:HS01948, ModBase:Q15459, NCBI Gene:10291, OMIM:605595, RefSeq DNA:NT_011520, RefSeq Protein:NP_001005409, RefSeq Protein:NP_005868, RefSeq RNA:NM_001005409, RefSeq RNA:NM_005877, UCSC Genome Browser:NM_005877, UniProtKB:Q15459 No chr22 30727977 30752931 30331988 30356947 +PA35684 8175 HGNC:10766 ENSG00000104897 splicing factor 3a subunit 2 SF3A2 splicing factor 3a, subunit 2, 66kDa PRPF11, Prp11, SAP62, SF3a66 Yes No Comparative Toxicogenomics Database:8175, Ensembl:ENSG00000104897, GenAtlas:SF3A2, GeneCard:SF3A2, HGNC:HGNC:10766, HumanCyc Gene:HS02648, ModBase:Q15428, NCBI Gene:8175, OMIM:600796, RefSeq DNA:NT_011255, RefSeq Protein:NP_009096, RefSeq RNA:NM_007165, UCSC Genome Browser:NM_007165, UniProtKB:Q05DF2, UniProtKB:Q15428 No chr19 2236816 2248678 2236817 2248679 +PA35685 10946 HGNC:10767 ENSG00000183431 splicing factor 3a subunit 3 SF3A3 splicing factor 3a, subunit 3, 60kDa PRP9, PRPF9, SAP61, SF3a60 Yes No Comparative Toxicogenomics Database:10946, Ensembl:ENSG00000183431, GenAtlas:SF3A3, GeneCard:SF3A3, HGNC:HGNC:10767, ModBase:Q12874, NCBI Gene:10946, OMIM:605596, RefSeq DNA:NT_032977, RefSeq Protein:NP_006793, RefSeq RNA:NM_006802, UCSC Genome Browser:NM_006802, UniProtKB:B3KY12, UniProtKB:Q12874 No chr1 38422647 38456019 37956975 37990110 +PA38167 170548 HGNC:16576 ENSG00000230568 splicing factor 3a, subunit 3 pseudogene 1 SF3A3P1 dJ581P3.1 Yes No Ensembl:ENSG00000230568, GenAtlas:SF3A3P, GeneCard:SF3A3P1, HGNC:HGNC:16576, NCBI Gene:170548, RefSeq DNA:NG_001054, RefSeq DNA:NT_011387 No chr20 3469976 3471671 3489299 3491027 +PA35686 23451 HGNC:10768 ENSG00000115524 splicing factor 3b subunit 1 SF3B1 splicing factor 3b, subunit 1, 155kDa Hsh155, PRPF10, Prp10, SAP155, SF3b155 Yes No Comparative Toxicogenomics Database:23451, Ensembl:ENSG00000115524, GenAtlas:SF3B1, GeneCard:SF3B1, HGNC:HGNC:10768, HumanCyc Gene:HS03903, ModBase:O75533, NCBI Gene:23451, OMIM:605590, RefSeq DNA:NT_005403, RefSeq Protein:NP_001005526, RefSeq Protein:NP_036565, RefSeq RNA:NM_001005526, RefSeq RNA:NM_012433, UCSC Genome Browser:NM_012433, UniProtKB:A0JLT9, UniProtKB:O75533, UniProtKB:Q7Z497 No chr2 198256698 198299815 197391974 197435093 +PA35687 10992 HGNC:10769 ENSG00000087365 splicing factor 3b subunit 2 SF3B2 splicing factor 3b, subunit 2, 145kDa Cus1, SAP145, SF3b1, SF3b145 Yes No Ensembl:ENSG00000087365, GenAtlas:SF3B2, GeneCard:SF3B2, HGNC:HGNC:10769, HumanCyc Gene:HS01575, NCBI Gene:10992, OMIM:605591, RefSeq DNA:NT_167190, RefSeq Protein:NP_006833, RefSeq RNA:NM_006842, UCSC Genome Browser:NM_006842, UniProtKB:Q13435 No chr11 65819264 65836382 66051772 66068911 +PA35688 23450 HGNC:10770 ENSG00000189091 splicing factor 3b subunit 3 SF3B3 """spliceosome-associated protein 130"", ""splicing factor 3b, subunit 3, 130kDa""" KIAA0017, RSE1, SAP130, SF3b130 Yes No Comparative Toxicogenomics Database:23450, Ensembl:ENSG00000189091, GenAtlas:SF3B3, GeneCard:SF3B3, HGNC:HGNC:10770, ModBase:Q15393, NCBI Gene:23450, OMIM:605592, RefSeq DNA:NT_010498, RefSeq Protein:NP_036558, RefSeq RNA:NM_012426, UCSC Genome Browser:NM_012426, UniProtKB:A8K6V3, UniProtKB:Q15393 No chr16 70557691 70611571 70523788 70577668 +PA35689 10262 HGNC:10771 ENSG00000143368 splicing factor 3b subunit 4 SF3B4 splicing factor 3b, subunit 4, 49kDa Hsh49, SAP49, SF3b49 Yes No Comparative Toxicogenomics Database:10262, Ensembl:ENSG00000143368, GenAtlas:SF3B4, GeneCard:SF3B4, HGNC:HGNC:10771, HumanCyc Gene:HS07037, ModBase:Q15427, NCBI Gene:10262, OMIM:605593, RefSeq DNA:NT_004487, RefSeq Protein:NP_005841, RefSeq RNA:NM_005850, UCSC Genome Browser:NM_005850, UniProtKB:Q15427 No chr1 149895209 149901449 149923317 149928252 +PA134860992 326276 HGNC:19821 ENSG00000258988 splicing factor 3b, subunit 4 pseudogene 1 SF3B4P1 Yes No Ensembl:ENSG00000258988, HGNC:HGNC:19821, NCBI Gene:326276, RefSeq DNA:NG_002291, RefSeq DNA:NG_002536, RefSeq DNA:NT_026437 No chr14 67665758 67667277 67199041 67200560 +PA134951632 83443 HGNC:21083 ENSG00000169976 splicing factor 3b subunit 5 SF3B5 splicing factor 3b, subunit 5, 10kDa MGC3133, SF3b10, Ysf3 Yes No Ensembl:ENSG00000169976, GeneCard:SF3B5, HGNC:HGNC:21083, HumanCyc Gene:HS10048, NCBI Gene:83443, RefSeq DNA:NT_025741, RefSeq Protein:NP_112577, RefSeq RNA:NM_031287, UniProtKB:Q9BWJ5 No chr6 144416018 144416754 144094881 144095617 +PA166123736 51639 HGNC:30096 ENSG00000115128 splicing factor 3b subunit 6 SF3B6 """pre mRNA branch site protein p14"", ""splicing factor 3b, subunit 6, 14kDa""" CGI-110, Ht006, P14, SAP14a, SF3B14a Yes No Ensembl:ENSG00000115128, HGNC:HGNC:30096, NCBI Gene:51639 No +PA142670930 9814 HGNC:29064 ENSG00000198089 SFI1 centrin binding protein SFI1 """Sfi1 homolog, spindle assembly associated (yeast)"", ""protein phosphatase 1, regulatory subunit 139""" KIAA0542, PISD, PPP1R139 Yes No Ensembl:ENSG00000198089, GeneCard:SFI1, HGNC:HGNC:29064, ModBase:Q86TK0, NCBI Gene:9814, OMIM:612765, RefSeq DNA:NT_011520, RefSeq Protein:NP_001007468, RefSeq Protein:NP_055590, RefSeq RNA:NM_001007467, RefSeq RNA:NM_014775, UniProtKB:A8K8P3 No chr22 31892125 32014537 31496139 31618554 +PA134898464 51460 HGNC:20255 ENSG00000163935 Scm like with four mbt domains 1 SFMBT1 Scm-like with four mbt domains 1 DKFZp434L243, RU1, SFMBT Yes No Ensembl:ENSG00000163935, GeneCard:SFMBT1, HGNC:HGNC:20255, HumanCyc Gene:HS15126, ModBase:Q9UHJ3, NCBI Gene:51460, OMIM:607319, RefSeq DNA:NT_022517, RefSeq Protein:NP_001005158, RefSeq Protein:NP_001005159, RefSeq Protein:NP_057413, RefSeq RNA:NM_001005158, RefSeq RNA:NM_001005159, RefSeq RNA:NM_016329, UniProtKB:Q402F7, UniProtKB:Q9UHJ3 No chr3 52933221 53080089 52899209 53046655 +PA134866013 57713 HGNC:20256 ENSG00000198879 Scm like with four mbt domains 2 SFMBT2 Scm-like with four mbt domains 2 KIAA1617 Yes No Comparative Toxicogenomics Database:57713, Ensembl:ENSG00000198879, GeneCard:SFMBT2, HGNC:HGNC:20256, ModBase:Q5VUG0, NCBI Gene:57713, RefSeq DNA:NT_008705, RefSeq Protein:NP_001018049, RefSeq Protein:NP_001025051, RefSeq RNA:NM_001018039, RefSeq RNA:NM_001029880, UniProtKB:Q5VUG0 No chr10 7200586 7453448 7158624 7411486 +PA177 2810 HGNC:10773 ENSG00000175793 stratifin SFN 14-3-3 sigma YWHAS Yes No Comparative Toxicogenomics Database:2810, Ensembl:ENSG00000175793, GenAtlas:SFN, GeneCard:SFN, HGNC:HGNC:10773, HumanCyc Gene:HS10974, ModBase:P31947, NCBI Gene:2810, OMIM:601290, RefSeq DNA:NT_004610, RefSeq Protein:NP_006133, RefSeq RNA:NM_006142, UCSC Genome Browser:NM_006142, UniProtKB:P31947 No chr1 27189633 27190947 26863142 26864456 +PA35690 6421 HGNC:10774 ENSG00000116560 splicing factor proline and glutamine rich SFPQ """polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"", ""splicing factor proline/glutamine-rich""" PPP1R140, PSF Yes No Comparative Toxicogenomics Database:6421, Ensembl:ENSG00000116560, GenAtlas:SFPQ, GeneCard:SFPQ, HGNC:HGNC:10774, HumanCyc Gene:HS04021, ModBase:P23246, NCBI Gene:6421, OMIM:605199, RefSeq DNA:NT_032977, RefSeq Protein:NP_005057, RefSeq RNA:NM_005066, RefSeq RNA:XR_110484, RefSeq RNA:XR_110485, RefSeq RNA:XR_110486, UCSC Genome Browser:NM_005066, UniProtKB:P23246, UniProtKB:Q86VG2 No chr1 35641981 35658766 35176378 35193161 +PA35691 23758 HGNC:10775 ENSG00000224035 splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated) pseudogene 1 SFPQP1 Yes No Ensembl:ENSG00000224035, GenAtlas:SFPQP, GeneCard:SFPQP1, HGNC:HGNC:10775, NCBI Gene:23758, RefSeq DNA:NG_002816, RefSeq DNA:NT_011875 No chrY 15206718 15209635 13094804 13097721 +PA134989928 119392 HGNC:29574 ENSG00000156384 SWI5 dependent homologous recombination repair protein 1 SFR1 SWI5-dependent recombination repair 1 C10orf78, FLJ41960, MEI5, MEIR5, bA373N18.1 Yes No Ensembl:ENSG00000156384, GeneCard:C10orf78, HGNC:HGNC:29574, HumanCyc Gene:HS14615, NCBI Gene:119392, RefSeq DNA:NT_030059, RefSeq Protein:NP_001002759, RefSeq Protein:NP_660290, RefSeq RNA:NM_001002759, RefSeq RNA:NM_145247, UniProtKB:B2RTV8, UniProtKB:Q5JT39, UniProtKB:Q86XK3 No chr10 105880059 105886143 104122058 104126385 +PA35692 6422 HGNC:10776 ENSG00000104332 secreted frizzled related protein 1 SFRP1 secreted frizzled-related protein 1 FRP, FRP-1, SARP2 Yes No Comparative Toxicogenomics Database:6422, Ensembl:ENSG00000104332, GenAtlas:SFRP1, GeneCard:SFRP1, HGNC:HGNC:10776, HumanCyc Gene:HS02568, ModBase:Q8N474, NCBI Gene:6422, OMIM:604156, RefSeq DNA:NT_167187, RefSeq Protein:NP_003003, RefSeq RNA:NM_003012, UCSC Genome Browser:NM_003012, UniProtKB:Q8N474 No chr8 41119476 41166990 41261957 41309471 +PA35693 6423 HGNC:10777 ENSG00000145423 secreted frizzled related protein 2 SFRP2 secreted frizzled-related protein 2 FRP-2, SARP1, SDF-5 Yes No Comparative Toxicogenomics Database:6423, Ensembl:ENSG00000145423, GenAtlas:SFRP2, GeneCard:SFRP2, HGNC:HGNC:10777, HumanCyc Gene:HS07253, ModBase:Q96HF1, NCBI Gene:6423, OMIM:604157, RefSeq DNA:NT_016354, RefSeq Protein:NP_003004, RefSeq RNA:NM_003013, UniProtKB:B3KSM5, UniProtKB:Q96HF1 No chr4 154701742 154710228 153780590 153789076 +PA35694 6424 HGNC:10778 ENSG00000106483 secreted frizzled related protein 4 SFRP4 secreted frizzled-related protein 4 FRP-4, FRPHE, FRZB-2, frpHE Yes No Comparative Toxicogenomics Database:6424, Ensembl:ENSG00000106483, GenAtlas:SFRP4, GeneCard:SFRP4, HGNC:HGNC:10778, HumanCyc Gene:HS02913, ModBase:Q6FHJ7, NCBI Gene:6424, OMIM:606570, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_003005, RefSeq RNA:NM_003014, UCSC Genome Browser:NM_003014, UniProtKB:Q6FHJ7 No chr7 37945534 37956525 37905932 37916923 +PA35695 6425 HGNC:10779 ENSG00000120057 secreted frizzled related protein 5 SFRP5 secreted apoptosis related protein 3, secreted frizzled-related protein 5 SARP3 Yes Yes Comparative Toxicogenomics Database:6425, Ensembl:ENSG00000120057, GenAtlas:SFRP5, GeneCard:SFRP5, HGNC:HGNC:10779, HumanCyc Gene:HS04363, ModBase:Q5T4F7, NCBI Gene:6425, OMIM:604158, RefSeq DNA:NT_030059, RefSeq Protein:NP_003006, RefSeq RNA:NM_003015, UCSC Genome Browser:NM_003015, UniProtKB:Q5T4F7 No chr10 99526508 99531756 97766751 97771999 +PA35706 6433 HGNC:10790 ENSG00000061936 splicing factor SWAP SFSWAP """splicing factor, suppressor of white-apricot family"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)""" SFRS8, SWAP Yes No Ensembl:ENSG00000061936, GenAtlas:SFRS8, GeneCard:SFRS8, HGNC:HGNC:10790, HumanCyc Gene:HS00762, NCBI Gene:6433, OMIM:601945, RefSeq DNA:NT_009755, RefSeq Protein:NP_004583, RefSeq RNA:NM_004592, UCSC Genome Browser:NM_004592, UniProtKB:Q12872 No chr12 132195632 132284283 131711087 131799738 +PA134962126 113402 HGNC:21102 ENSG00000198818 SFT2 domain containing 1 SFT2D1 C6orf83, MGC19825, pRGR1 Yes No Comparative Toxicogenomics Database:113402, Ensembl:ENSG00000198818, GeneCard:SFT2D1, HGNC:HGNC:21102, ModBase:Q8WV19, NCBI Gene:113402, RefSeq DNA:NT_025741, RefSeq Protein:NP_660152, RefSeq RNA:NM_145169, UniProtKB:Q8WV19 No chr6 166733516 166755991 166319728 166342606 +PA142670928 375035 HGNC:25140 ENSG00000213064 SFT2 domain containing 2 SFT2D2 UNQ512, dJ747L4.C1.2 Yes No Comparative Toxicogenomics Database:375035, Ensembl:ENSG00000213064, GeneCard:SFT2D2, HGNC:HGNC:25140, ModBase:O95562, NCBI Gene:375035, RefSeq DNA:NT_004487, RefSeq Protein:NP_955376, RefSeq RNA:NM_199344, UniProtKB:O95562 No chr1 168195255 168212088 168226017 168242850 +PA142670929 84826 HGNC:28767 ENSG00000173349 SFT2 domain containing 3 SFT2D3 MGC5391 Yes No Ensembl:ENSG00000173349, GeneCard:SFT2D3, HGNC:HGNC:28767, HumanCyc Gene:HS16200, ModBase:Q587I9, NCBI Gene:84826, RefSeq DNA:NT_022135, RefSeq Protein:NP_116129, RefSeq RNA:NM_032740, UniProtKB:Q587I9 No chr2 128458597 128461407 127701023 127703833 +PA38322 207107 HGNC:18383 ENSG00000225383 surfactant associated 1, pseudogene SFTA1P Yes No Ensembl:ENSG00000225383, GenAtlas:SFTPF, GeneCard:SFTA1P, HGNC:HGNC:18383, NCBI Gene:207107, RefSeq RNA:NR_027082 No chr10 10826402 10836877 10784439 10794914 +PA164725669 389376 HGNC:18386 ENSG00000196260, ENSG00000206465, ENSG00000225454, ENSG00000230072, ENSG00000237814 surfactant associated 2 SFTA2 SFTPG, SP-G Yes No Ensembl:ENSG00000196260, Ensembl:ENSG00000206465, Ensembl:ENSG00000225454, Ensembl:ENSG00000230072, Ensembl:ENSG00000237814, GeneCard:SFTA2, HGNC:HGNC:18386, NCBI Gene:389376, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_995326, RefSeq RNA:NM_205854, UniProtKB:Q6UW10 No chr6 30899127 30899952 30931350 30932175 +PA164725680 253970 HGNC:18387 ENSG00000257520 surfactant associated 3 SFTA3 NKX2.1 associated non-coding intergenic RNA NANCI, SFTPH Yes No Ensembl:ENSG00000257520, GeneCard:SFTA3, HGNC:HGNC:18387, NCBI Gene:253970, RefSeq DNA:NT_026437, RefSeq Protein:NP_001094811, RefSeq RNA:NM_001101341, UniProtKB:P0C7M3 No chr14 36942493 36982990 36473288 36513785 +PA35710 653509 HGNC:10798 ENSG00000122852 surfactant protein A1 SFTPA1 surfactant, pulmonary-associated protein A1A COLEC4, SFTP1, SP-A, SP-A1 Yes No Comparative Toxicogenomics Database:6435, Ensembl:ENSG00000122852, GenAtlas:SFTPA1, GeneCard:SFTPA1, HGNC:HGNC:10798, NCBI Gene:653509, OMIM:178500, OMIM:178630, RefSeq DNA:NG_021189, RefSeq DNA:NT_030059, RefSeq Protein:NP_001087239, RefSeq Protein:NP_001158116, RefSeq Protein:NP_001158117, RefSeq Protein:NP_001158118, RefSeq Protein:NP_001158119, RefSeq Protein:NP_005402, RefSeq RNA:NM_001093770, RefSeq RNA:NM_001164644, RefSeq RNA:NM_001164645, RefSeq RNA:NM_001164646, RefSeq RNA:NM_001164647, RefSeq RNA:NM_005411, UCSC Genome Browser:NM_005411, UniProtKB:B4DNP6, UniProtKB:Q8IWL2 No chr10 81370651 81375199 79610939 79615443 +PA35711 729238 HGNC:10799 ENSG00000185303 surfactant protein A2 SFTPA2 surfactant, pulmonary-associated protein A2A COLEC5, SP-A2 Yes No Ensembl:ENSG00000185303, GenAtlas:SFTPA2, GeneCard:SFTPA2, HGNC:HGNC:10799, NCBI Gene:729238, OMIM:178500, OMIM:178642, RefSeq DNA:NG_013046, RefSeq DNA:NT_030059, RefSeq Protein:NP_001092138, RefSeq RNA:NM_001098668, UCSC Genome Browser:NM_006926, UniProtKB:Q8IWL1 No chr10 81315608 81320177 79555852 79560461 +PA35713 6439 HGNC:10801 ENSG00000168878 surfactant protein B SFTPB SFTP3, SP-B Yes No Comparative Toxicogenomics Database:6439, Ensembl:ENSG00000168878, GenAtlas:SFTPB, GeneCard:SFTPB, HGNC:HGNC:10801, HumanCyc Gene:HS09842, ModBase:P07988, NCBI Gene:6439, OMIM:178640, OMIM:265120, RefSeq DNA:NG_016967, RefSeq DNA:NT_022184, RefSeq Protein:NP_000533, RefSeq Protein:NP_942140, RefSeq RNA:NM_000542, RefSeq RNA:NM_198843, UCSC Genome Browser:NM_000542, UniProtKB:P07988 No chr2 85884440 85895864 85657317 85668741 +PA35714 6440 HGNC:10802 ENSG00000168484 surfactant protein C SFTPC BRICHOS domain containing 6 BRICD6, PSP-C, SFTP2, SMDP2, SP-C Yes No Comparative Toxicogenomics Database:6440, Ensembl:ENSG00000168484, GenAtlas:SFTPC, GeneCard:SFTPC, HGNC:HGNC:10802, HumanCyc Gene:HS09770, ModBase:P11686, NCBI Gene:6440, OMIM:178500, OMIM:178620, OMIM:265120, OMIM:610913, RefSeq DNA:NG_016968, RefSeq DNA:NT_167187, RefSeq Protein:NP_001165828, RefSeq Protein:NP_001165881, RefSeq Protein:NP_003009, RefSeq RNA:NM_001172357, RefSeq RNA:NM_001172410, RefSeq RNA:NM_003018, UCSC Genome Browser:NM_003018, UniProtKB:C9JYF6, UniProtKB:P11686 No chr8 22014853 22021992 22161671 22164479 +PA35715 6441 HGNC:10803 ENSG00000133661 surfactant protein D SFTPD COLEC7, SFTP4, SP-D Yes No Comparative Toxicogenomics Database:6441, Ensembl:ENSG00000133661, GenAtlas:SFTPD, GeneCard:SFTPD, HGNC:HGNC:10803, HumanCyc Gene:HS05777, ModBase:P35247, NCBI Gene:6441, OMIM:178635, RefSeq DNA:NT_030059, RefSeq Protein:NP_003010, RefSeq RNA:NM_003019, UCSC Genome Browser:NM_003019, UniProtKB:P35247 No chr10 81697496 81708861 79937740 79982236 +PA38090 94081 HGNC:16085 ENSG00000164466 sideroflexin 1 SFXN1 FLJ12876, SLC56A1 Yes No Comparative Toxicogenomics Database:94081, Ensembl:ENSG00000164466, GenAtlas:SFXN1, GeneCard:SFXN1, HGNC:HGNC:16085, HumanCyc Gene:HS09086, ModBase:Q9H9B4, NCBI Gene:94081, RefSeq DNA:NT_023133, RefSeq Protein:NP_073591, RefSeq RNA:NM_022754, UCSC Genome Browser:NM_022754, UniProtKB:Q9H9B4 No chr5 174905514 174956745 175478498 175529742 +PA38091 118980 HGNC:16086 ENSG00000156398 sideroflexin 2 SFXN2 SLC56A2 Yes No Comparative Toxicogenomics Database:118980, Ensembl:ENSG00000156398, GenAtlas:SFXN2, GeneCard:SFXN2, HGNC:HGNC:16086, HumanCyc Gene:HS08122, ModBase:Q96NB2, NCBI Gene:118980, RefSeq DNA:NT_030059, RefSeq Protein:NP_849189, RefSeq RNA:NM_178858, UCSC Genome Browser:NM_178858, UniProtKB:Q5JSM6, UniProtKB:Q96NB2 No chr10 104474298 104498947 102714518 102739189 +PA38092 81855 HGNC:16087 ENSG00000107819 sideroflexin 3 SFXN3 SFX3, SLC56A3 Yes No Comparative Toxicogenomics Database:81855, Ensembl:ENSG00000107819, GenAtlas:SFXN3, GeneCard:SFXN3, HGNC:HGNC:16087, HumanCyc Gene:HS03031, NCBI Gene:81855, RefSeq DNA:NT_030059, RefSeq Protein:NP_112233, RefSeq RNA:NM_030971, UniProtKB:Q9BWM7 No chr10 102790996 102800998 101031229 101041243 +PA38093 119559 HGNC:16088 ENSG00000183605 sideroflexin 4 SFXN4 SLC56A4 Yes No Comparative Toxicogenomics Database:119559, Ensembl:ENSG00000183605, GenAtlas:SFXN4, GeneCard:SFXN4, HGNC:HGNC:16088, ModBase:Q6P4A7, NCBI Gene:119559, RefSeq DNA:NT_030059, RefSeq Protein:NP_998814, RefSeq RNA:NM_213649, UCSC Genome Browser:NM_178867, UniProtKB:Q6P4A7 No chr10 120900425 120925221 119140913 119165711 +PA38088 94097 HGNC:16073 ENSG00000144040 sideroflexin 5 SFXN5 BBG-TCC, SLC56A5 Yes No Comparative Toxicogenomics Database:94097, Ensembl:ENSG00000144040, GenAtlas:SFXN5, GeneCard:SFXN5, HGNC:HGNC:16073, HumanCyc Gene:HS07141, ModBase:Q8TD22, NCBI Gene:94097, RefSeq DNA:NT_022184, RefSeq Protein:NP_653180, RefSeq RNA:NM_144579, UCSC Genome Browser:NM_144579, UniProtKB:Q8TD22 No chr2 73169165 73298965 72942036 73072234 +PA35716 6442 HGNC:10805 ENSG00000108823 sarcoglycan alpha SGCA """50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"", ""limb girdle muscular dystrophy 2D"", ""sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)""" A2, ADL, DMDA2, LGMD2D, SCARMD1, adhalin Yes No Comparative Toxicogenomics Database:6442, Ensembl:ENSG00000108823, GenAtlas:SGCA, GeneCard:SGCA, HGNC:HGNC:10805, HumanCyc Gene:HS03162, ModBase:Q16586, NCBI Gene:6442, OMIM:600119, OMIM:608099, RefSeq DNA:NG_008889, RefSeq DNA:NT_010783, RefSeq Protein:NP_000014, RefSeq Protein:NP_001129169, RefSeq RNA:NM_000023, RefSeq RNA:NM_001135697, UCSC Genome Browser:NM_000023, UniProtKB:Q16586 No chr17 48243240 48253293 50165517 50175932 +PA35717 6443 HGNC:10806 ENSG00000163069 sarcoglycan beta SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) A3b, LGMD2E, SGC Yes No Comparative Toxicogenomics Database:6443, Ensembl:ENSG00000163069, GenAtlas:SGCB, GeneCard:SGCB, HGNC:HGNC:10806, HumanCyc Gene:HS08783, ModBase:Q16585, NCBI Gene:6443, OMIM:600900, OMIM:604286, RefSeq DNA:NG_008891, RefSeq DNA:NT_022853, RefSeq Protein:NP_000223, RefSeq RNA:NM_000232, UCSC Genome Browser:NM_000232, UniProtKB:Q16585, UniProtKB:Q5U0N0 No chr4 52885752 52904485 52020695 52038319 +PA35718 6444 HGNC:10807 ENSG00000170624 sarcoglycan delta SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) CMD1L, DAGD, LGMD2F Yes No Comparative Toxicogenomics Database:6444, Ensembl:ENSG00000170624, GenAtlas:SGCD, GeneCard:SGCD, HGNC:HGNC:10807, HumanCyc Gene:HS10158, NCBI Gene:6444, OMIM:601287, OMIM:601411, OMIM:606685, RefSeq DNA:NG_008693, RefSeq DNA:NT_023133, RefSeq Protein:NP_000328, RefSeq Protein:NP_001121681, RefSeq Protein:NP_758447, RefSeq RNA:NM_000337, RefSeq RNA:NM_001128209, RefSeq RNA:NM_172244, UCSC Genome Browser:NM_000337, UniProtKB:Q92629 No chr5 155462147 156194799 155728636 156767788 +PA35719 8910 HGNC:10808 ENSG00000127990 sarcoglycan epsilon SGCE sarcoglycan, epsilon DYT11 Yes No Comparative Toxicogenomics Database:8910, Ensembl:ENSG00000127990, GenAtlas:SGCE, GeneCard:SGCE, HGNC:HGNC:10808, HumanCyc Gene:HS05148, NCBI Gene:8910, OMIM:159900, OMIM:604149, RefSeq DNA:NG_008893, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001092870, RefSeq Protein:NP_001092871, RefSeq Protein:NP_003910, RefSeq RNA:NM_001099400, RefSeq RNA:NM_001099401, RefSeq RNA:NM_003919, UCSC Genome Browser:NM_003919, UniProtKB:O43556, UniProtKB:Q6L8P0 No chr7 94214536 94285521 94585224 94656209 +PA35720 6445 HGNC:10809 ENSG00000102683 sarcoglycan gamma SGCG """35kD dystrophin-associated glycoprotein"", ""Maghrebian myopathy (autosomal recessive)"", ""gamma sarcoglycan"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)""" A4, DAGA4, DMDA, DMDA1, LGMD2C, MAM, MGC130048, SCARMD2, SCG3, TYPE Yes No Comparative Toxicogenomics Database:6445, Ensembl:ENSG00000102683, GenAtlas:SGCG, GeneCard:SGCG, HGNC:HGNC:10809, HumanCyc Gene:HS02403, ModBase:Q13326, NCBI Gene:6445, OMIM:253700, OMIM:608896, RefSeq DNA:NG_008759, RefSeq DNA:NT_024524, RefSeq Protein:NP_000222, RefSeq RNA:NM_000231, UCSC Genome Browser:NM_000231, UniProtKB:Q13326 No chr13 23755060 23899304 23160308 23325165 +PA38378 137868 HGNC:14075 ENSG00000185053 sarcoglycan zeta SGCZ """Zeta-SG"", ""Zeta-sarcoglycan"", ""sarcoglycan, zeta""" ZSG1 Yes No Ensembl:ENSG00000185053, GenAtlas:SGCZ, GeneCard:SGCZ, HGNC:HGNC:14075, NCBI Gene:137868, OMIM:608113, RefSeq DNA:NG_008899, RefSeq DNA:NT_167187, RefSeq Protein:NP_631906, RefSeq RNA:NM_139167, UCSC Genome Browser:NM_139167, UniProtKB:Q96LD1 No chr8 13947373 15095792 14084835 15238283 +PA144596468 112869 HGNC:25156 ENSG00000176476 SAGA complex associated factor 29 SGF29 SAGA-associated factor 29 homolog (yeast), coiled-coil domain containing 101 CCDC101, FLJ32446, SGF29, TDRD29 Yes No Ensembl:ENSG00000176476, GeneCard:CCDC101, HGNC:HGNC:25156, HumanCyc Gene:HS16673, ModBase:Q96ES7, NCBI Gene:112869, OMIM:613374, RefSeq DNA:NT_010393, RefSeq Protein:NP_612423, RefSeq RNA:NM_138414, UniProtKB:Q96ES7 No chr16 28565249 28603111 28553915 28591790 +PA134909202 84251 HGNC:25412 ENSG00000118473 SH3GL interacting endocytic adaptor 1 SGIP1 SH3 domain GRB2 like endophilin interacting protein 1, SH3-domain GRB2-like (endophilin) interacting protein 1 DKFZp761D221 Yes No Comparative Toxicogenomics Database:84251, Ensembl:ENSG00000118473, GeneCard:SGIP1, HGNC:HGNC:25412, HumanCyc Gene:HS12917, ModBase:Q6MZY6, NCBI Gene:84251, OMIM:611540, RefSeq DNA:NT_032977, RefSeq Protein:NP_115667, RefSeq RNA:NM_032291, UniProtKB:Q9BQI5 No chr1 66999066 67210768 66533272 66751139 +PA162403013 6446 HGNC:10810 ENSG00000118515 serum/glucocorticoid regulated kinase 1 SGK1 SGK Yes No Ensembl:ENSG00000118515, GeneCard:SGK1, HGNC:HGNC:10810, HumanCyc Gene:HS04230, ModBase:O00141, NCBI Gene:6446, OMIM:602958, RefSeq DNA:NT_025741, RefSeq Protein:NP_001137148, RefSeq Protein:NP_001137149, RefSeq Protein:NP_001137150, RefSeq Protein:NP_005618, RefSeq RNA:NM_001143676, RefSeq RNA:NM_001143677, RefSeq RNA:NM_001143678, RefSeq RNA:NM_005627, UniProtKB:O00141 No chr6 134490384 134639196 134169246 134318112 +PA166352121 10110 HGNC:13900 serum/glucocorticoid regulated kinase 2 SGK2 Yes No HGNC:HGNC:13900, NCBI Gene:10110 No 0 0 0 0 +PA35722 23678 HGNC:10812 ENSG00000104205 serum/glucocorticoid regulated kinase family member 3 SGK3 serum/glucocorticoid regulated kinase family, member 3 SGK2, SGKL Yes No Comparative Toxicogenomics Database:23678, Ensembl:ENSG00000104205, GenAtlas:SGK3, GeneCard:SGK3, HGNC:HGNC:10812, HumanCyc Gene:HS02552, ModBase:Q96BR1, NCBI Gene:23678, OMIM:607591, RefSeq DNA:NT_008183, RefSeq Protein:NP_001028750, RefSeq Protein:NP_037389, RefSeq Protein:NP_733827, RefSeq RNA:NM_001033578, RefSeq RNA:NM_013257, RefSeq RNA:NM_170709, UCSC Genome Browser:NM_013257, UniProtKB:A6NEJ5, UniProtKB:Q5H9Q5, UniProtKB:Q96BR1 No chr8 67624653 67774257 66712418 66862022 +PA162403042 259230 HGNC:29799 ENSG00000198964 sphingomyelin synthase 1 SGMS1 phosphatidylcholine:ceramide cholinephosphotransferase 1 MGC17342, MOB, SMS1, TMEM23 Yes No Ensembl:ENSG00000198964, GeneCard:SGMS1, HGNC:HGNC:29799, HumanCyc Gene:HS11945, NCBI Gene:259230, OMIM:611573, RefSeq DNA:NT_030059, RefSeq Protein:NP_671512, RefSeq RNA:NM_147156, UniProtKB:Q86VZ5 No chr10 52065345 52383737 50305585 50623977 +PA162403069 166929 HGNC:28395 ENSG00000164023 sphingomyelin synthase 2 SGMS2 MGC26963, SMS2 Yes No Ensembl:ENSG00000164023, GeneCard:SGMS2, HGNC:HGNC:28395, HumanCyc Gene:HS15139, ModBase:Q8NHU3, NCBI Gene:166929, OMIM:611574, RefSeq DNA:NT_016354, RefSeq Protein:NP_001129729, RefSeq Protein:NP_001129730, RefSeq Protein:NP_689834, RefSeq RNA:NM_001136257, RefSeq RNA:NM_001136258, RefSeq RNA:NM_152621, UniProtKB:Q8NHU3 No chr4 108745721 108836203 107823645 107915047 +PA134988556 151648 HGNC:25088 ENSG00000129810 shugoshin 1 SGO1 shugoshin-like 1 (S. pombe) NY-BR-85, SGOL1 Yes No Comparative Toxicogenomics Database:151648, Ensembl:ENSG00000129810, GeneCard:SGOL1, HGNC:HGNC:25088, HumanCyc Gene:HS13309, ModBase:Q9BVA8, NCBI Gene:151648, OMIM:609168, RefSeq DNA:NT_022517, RefSeq Protein:NP_001012409, RefSeq Protein:NP_001012410, RefSeq Protein:NP_001012411, RefSeq Protein:NP_001012412, RefSeq Protein:NP_001012413, RefSeq Protein:NP_001186180, RefSeq Protein:NP_001186181, RefSeq Protein:NP_001186182, RefSeq Protein:NP_001186183, RefSeq Protein:NP_001186184, RefSeq Protein:NP_001186185, RefSeq Protein:NP_001186186, RefSeq Protein:NP_612493, RefSeq RNA:NM_001012409, RefSeq RNA:NM_001012410, RefSeq RNA:NM_001012411, RefSeq RNA:NM_001012412, RefSeq RNA:NM_001012413, RefSeq RNA:NM_001199251, RefSeq RNA:NM_001199252, RefSeq RNA:NM_001199253, RefSeq RNA:NM_001199254, RefSeq RNA:NM_001199255, RefSeq RNA:NM_001199256, RefSeq RNA:NM_001199257, RefSeq RNA:NM_138484, UniProtKB:B5BUA4, UniProtKB:C9JF92, UniProtKB:Q5FBB7 No chr3 20202085 20227724 20160593 20188143 +PA134901462 151246 HGNC:30812 ENSG00000163535 shugoshin 2 SGO2 shugoshin-like 2 (S. pombe) FLJ25211, SGOL2, TRIPIN Yes No Ensembl:ENSG00000163535, GeneCard:SGOL2, HGNC:HGNC:30812, HumanCyc Gene:HS15077, NCBI Gene:151246, OMIM:612425, RefSeq DNA:NT_005403, RefSeq Protein:NP_001153505, RefSeq Protein:NP_001153518, RefSeq Protein:NP_689737, RefSeq RNA:NM_001160033, RefSeq RNA:NM_001160046, RefSeq RNA:NM_152524, UniProtKB:B7Z7S9, UniProtKB:Q562F6 No chr2 201390865 201448818 200510198 200584095 +PA35725 8879 HGNC:10817 ENSG00000166224 sphingosine-1-phosphate lyase 1 SGPL1 SPL Yes No Ensembl:ENSG00000166224, GenAtlas:SGPL1, GeneCard:SGPL1, HGNC:HGNC:10817, HumanCyc Gene:HS09357, ModBase:O95470, NCBI Gene:8879, OMIM:603729, RefSeq DNA:NT_030059, RefSeq Protein:NP_003892, RefSeq RNA:NM_003901, UCSC Genome Browser:NM_003901, UniProtKB:O95470 No chr10 72575704 72640946 70815920 70881189 +PA134884424 81537 HGNC:17720 ENSG00000126821 sphingosine-1-phosphate phosphatase 1 SGPP1 Yes No Comparative Toxicogenomics Database:81537, Ensembl:ENSG00000126821, GeneCard:SGPP1, HGNC:HGNC:17720, HumanCyc Gene:HS13219, ModBase:Q9BX95, NCBI Gene:81537, OMIM:612826, RefSeq DNA:NT_026437, RefSeq Protein:NP_110418, RefSeq RNA:NM_030791, UniProtKB:Q9BX95 No chr14 64150934 64194756 63684216 63728095 +PA134956234 130367 HGNC:19953 ENSG00000163082 sphingosine-1-phosphate phosphatase 2 SGPP2 FLJ39004, SPP2 Yes No Ensembl:ENSG00000163082, GeneCard:SGPP2, HGNC:HGNC:19953, HumanCyc Gene:HS15019, ModBase:Q8IWX5, NCBI Gene:130367, OMIM:612827, RefSeq DNA:NT_005403, RefSeq Protein:NP_689599, RefSeq RNA:NM_152386, UniProtKB:Q8IWX5 No chr2 223288771 223427342 222424052 222562622 +PA35726 6448 HGNC:10818 ENSG00000181523 N-sulfoglucosamine sulfohydrolase SGSH mucopolysaccharidosis type IIIA, sulfamidase HSS, MPS3A, SFMD Yes No Comparative Toxicogenomics Database:6448, Ensembl:ENSG00000181523, GenAtlas:SGSH, GeneCard:SGSH, HGNC:HGNC:10818, HumanCyc Gene:HS11629, ModBase:P51688, NCBI Gene:6448, OMIM:252900, OMIM:605270, RefSeq DNA:NG_008229, RefSeq DNA:NT_010783, RefSeq Protein:NP_000190, RefSeq RNA:NM_000199, UCSC Genome Browser:NM_000199, UniProtKB:P51688 No chr17 78180515 78194199 80200668 80220400 +PA162403086 129049 HGNC:29410 ENSG00000167037 small G protein signaling modulator 1 SGSM1 KIAA1941, RUTBC2 Yes No Ensembl:ENSG00000167037, GeneCard:SGSM1, HGNC:HGNC:29410, ModBase:Q2NKQ1, NCBI Gene:129049, OMIM:611417, RefSeq DNA:NT_011520, RefSeq Protein:NP_001035037, RefSeq Protein:NP_001091967, RefSeq Protein:NP_001091968, RefSeq Protein:NP_597711, RefSeq RNA:NM_001039948, RefSeq RNA:NM_001098497, RefSeq RNA:NM_001098498, RefSeq RNA:NM_133454, UniProtKB:Q2NKQ1 No chr22 25202136 25322813 24806221 24926846 +PA162403141 9905 HGNC:29026 ENSG00000141258 small G protein signaling modulator 2 SGSM2 KIAA0397, RUTBC1 Yes No Ensembl:ENSG00000141258, GeneCard:SGSM2, HGNC:HGNC:29026, ModBase:O43147, NCBI Gene:9905, OMIM:611418, RefSeq DNA:NT_010718, RefSeq Protein:NP_001091979, RefSeq Protein:NP_055668, RefSeq RNA:NM_001098509, RefSeq RNA:NM_014853, UniProtKB:B9A6J3, UniProtKB:O43147 No chr17 2240806 2284353 2337512 2381074 +PA162403194 27352 HGNC:25228 ENSG00000100359 small G protein signaling modulator 3 SGSM3 RUN and SH3 containing 3 DJ1042K10.2, RABGAP5, RUSC3, RUTBC3, RabGAP-5 Yes No Ensembl:ENSG00000100359, GeneCard:SGSM3, HGNC:HGNC:25228, HumanCyc Gene:HS12403, ModBase:Q96HU1, NCBI Gene:27352, OMIM:610440, RefSeq DNA:NT_011520, RefSeq Protein:NP_056520, RefSeq RNA:NM_015705, UniProtKB:B9A6J5, UniProtKB:Q96HU1 No chr22 40766571 40806293 40370530 40410289 +PA35727 6449 HGNC:10819 ENSG00000104969 small glutamine rich tetratricopeptide repeat co-chaperone alpha SGTA """small glutamine rich tetratricopeptide repeat containing alpha"", ""small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha"", ""viral protein U-binding protein""" SGT, SGT1, UBP, Vpu, alphaSGT, hSGT Yes No Ensembl:ENSG00000104969, GenAtlas:SGTA, GeneCard:SGTA, HGNC:HGNC:10819, HumanCyc Gene:HS02665, ModBase:O43765, NCBI Gene:6449, OMIM:603419, RefSeq DNA:NT_011255, RefSeq Protein:NP_003012, RefSeq RNA:NM_003021, UCSC Genome Browser:NM_003021, UniProtKB:O43765 No chr19 2754711 2783363 2754714 2783356 +PA134957805 54557 HGNC:23567 ENSG00000197860 small glutamine rich tetratricopeptide repeat co-chaperone beta SGTB """small glutamine rich tetratricopeptide repeat containing beta"", ""small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta""" FLJ39002, Sgt2 Yes No Comparative Toxicogenomics Database:54557, Ensembl:ENSG00000197860, GeneCard:SGTB, HGNC:HGNC:23567, ModBase:Q96EQ0, NCBI Gene:54557, RefSeq DNA:NT_006713, RefSeq Protein:NP_061945, RefSeq RNA:NM_019072, UniProtKB:Q96EQ0 No chr5 64961755 65018648 65665928 65722821 +PA145148084 25970 HGNC:30417 ENSG00000178188 SH2B adaptor protein 1 SH2B1 SH2-B homolog FLJ30542, SH2B Yes Yes Ensembl:ENSG00000178188, GeneCard:SH2B1, HGNC:HGNC:30417, HumanCyc Gene:HS11260, ModBase:Q9NRF2, NCBI Gene:25970, OMIM:608937, RefSeq DNA:NT_010393, RefSeq Protein:NP_001139267, RefSeq Protein:NP_001139268, RefSeq Protein:NP_001139269, RefSeq Protein:NP_001139284, RefSeq Protein:NP_056318, RefSeq RNA:NM_001145795, RefSeq RNA:NM_001145796, RefSeq RNA:NM_001145797, RefSeq RNA:NM_001145812, RefSeq RNA:NM_015503, UniProtKB:B3KNV5, UniProtKB:B4DLN5, UniProtKB:Q9NRF2 No chr16 28872939 28885534 28846600 28874213 +PA145148106 10603 HGNC:17381 ENSG00000160999 SH2B adaptor protein 2 SH2B2 adaptor protein with pleckstrin homology and src APS Yes No Comparative Toxicogenomics Database:10603, Ensembl:ENSG00000160999, GeneCard:SH2B2, HGNC:HGNC:17381, HumanCyc Gene:HS08562, ModBase:O14492, NCBI Gene:10603, OMIM:605300, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_066189, RefSeq RNA:NM_020979, UniProtKB:O14492 No chr7 101928405 101962178 102284526 102321711 +PA145148124 10019 HGNC:29605 ENSG00000111252 SH2B adaptor protein 3 SH2B3 lymphocyte adaptor protein IDDM20, LNK Yes Yes Comparative Toxicogenomics Database:10019, Ensembl:ENSG00000111252, GeneCard:SH2B3, HGNC:HGNC:29605, HumanCyc Gene:HS03389, ModBase:Q9UQQ2, NCBI Gene:10019, OMIM:222100, OMIM:605093, OMIM:612011, RefSeq DNA:NG_021216, RefSeq DNA:NT_009775, RefSeq Protein:NP_005466, RefSeq RNA:NM_005475, UniProtKB:Q59H48, UniProtKB:Q9UQQ2 No chr12 111843720 111889427 111405106 111451623 +PA35728 4068 HGNC:10820 ENSG00000183918 SH2 domain containing 1A SH2D1A Duncan's disease DSHP, EBVS, IMD5, LYP, MTCP1, SAP, XLP, XLPD Yes No Comparative Toxicogenomics Database:4068, Ensembl:ENSG00000183918, GenAtlas:SH2D1A, GeneCard:SH2D1A, HGNC:HGNC:10820, ModBase:O60880, NCBI Gene:4068, OMIM:300490, OMIM:308240, RefSeq DNA:NG_007464, RefSeq DNA:NT_011786, RefSeq Protein:NP_001108409, RefSeq Protein:NP_002342, RefSeq RNA:NM_001114937, RefSeq RNA:NM_002351, UCSC Genome Browser:NM_002351, UniProtKB:O60880, UniProtKB:Q6FGS6 No chrX 123480132 123507010 124346282 124373160 +PA142670926 117157 HGNC:30416 ENSG00000198574 SH2 domain containing 1B SH2D1B EAT2 Yes No Comparative Toxicogenomics Database:117157, Ensembl:ENSG00000198574, GeneCard:SH2D1B, HGNC:HGNC:30416, ModBase:O14796, NCBI Gene:117157, OMIM:608510, RefSeq DNA:NT_004487, RefSeq Protein:NP_444512, RefSeq RNA:NM_053282, UniProtKB:O14796 No chr1 162365056 162381928 162395266 162412138 +PA35729 9047 HGNC:10821 ENSG00000027869 SH2 domain containing 2A SH2D2A T cell specific adapter protein TSAd, T cell specific adpater protein TSAd, T lymphocyte specific adaptor protein F2771, TSAd Yes No Comparative Toxicogenomics Database:9047, Ensembl:ENSG00000027869, GenAtlas:SH2D2A, GeneCard:SH2D2A, HGNC:HGNC:10821, HumanCyc Gene:HS00460, ModBase:Q9NP31, NCBI Gene:9047, OMIM:604514, RefSeq DNA:NG_016849, RefSeq DNA:NT_004487, RefSeq Protein:NP_001154913, RefSeq Protein:NP_001154914, RefSeq Protein:NP_001154915, RefSeq Protein:NP_001154916, RefSeq Protein:NP_003966, RefSeq RNA:NM_001161441, RefSeq RNA:NM_001161442, RefSeq RNA:NM_001161443, RefSeq RNA:NM_001161444, RefSeq RNA:NM_003975, UCSC Genome Browser:NM_003975, UniProtKB:Q5UBZ2, UniProtKB:Q5UBZ3, UniProtKB:Q5VZS4, UniProtKB:Q9NP31 No chr1 156776035 156786640 156806238 156816853 +PA38192 10045 HGNC:16885 ENSG00000125731 SH2 domain containing 3A SH2D3A NSP1 Yes No Ensembl:ENSG00000125731, GenAtlas:SH2D3A, GeneCard:SH2D3A, HGNC:HGNC:16885, HumanCyc Gene:HS04919, ModBase:Q9BRG2, NCBI Gene:10045, OMIM:604721, RefSeq DNA:NT_011255, RefSeq Protein:NP_005481, RefSeq RNA:NM_005490, UCSC Genome Browser:NM_005490, UniProtKB:A8K2M8, UniProtKB:Q9BRG2 No chr19 6752171 6767531 6752160 6767513 +PA38191 10044 HGNC:16884 ENSG00000095370 SH2 domain containing 3C SH2D3C NSP3 Yes No Comparative Toxicogenomics Database:10044, Ensembl:ENSG00000095370, GenAtlas:SH2D3C, GeneCard:SH2D3C, HGNC:HGNC:16884, HumanCyc Gene:HS01817, ModBase:Q8N5H7, NCBI Gene:10044, OMIM:604722, RefSeq DNA:NT_008470, RefSeq Protein:NP_001136003, RefSeq Protein:NP_001136004, RefSeq Protein:NP_001136005, RefSeq Protein:NP_001136006, RefSeq Protein:NP_005480, RefSeq Protein:NP_733745, RefSeq RNA:NM_001142531, RefSeq RNA:NM_001142532, RefSeq RNA:NM_001142533, RefSeq RNA:NM_001142534, RefSeq RNA:NM_005489, RefSeq RNA:NM_170600, UCSC Genome Browser:NM_005489, UniProtKB:A8K5S8, UniProtKB:B4DG32, UniProtKB:Q5JU31, UniProtKB:Q8N5H7 No chr9 130500596 130541048 127738317 127778769 +PA134891945 63898 HGNC:26102 ENSG00000104611 SH2 domain containing 4A SH2D4A protein phosphatase 1, regulatory subunit 38 FLJ20967, PPP1R38, SH2A Yes No Comparative Toxicogenomics Database:63898, Ensembl:ENSG00000104611, GeneCard:SH2D4A, HGNC:HGNC:26102, HumanCyc Gene:HS02596, ModBase:Q9H788, NCBI Gene:63898, RefSeq DNA:NT_167187, RefSeq Protein:NP_001167630, RefSeq Protein:NP_001167631, RefSeq Protein:NP_071354, RefSeq RNA:NM_001174159, RefSeq RNA:NM_001174160, RefSeq RNA:NM_022071, UniProtKB:B4DDR1, UniProtKB:Q9H788 No chr8 19171081 19253729 19313443 19396218 +PA134943660 387694 HGNC:31440 ENSG00000178217 SH2 domain containing 4B SH2D4B Yes No Ensembl:ENSG00000178217, GeneCard:SH2D4B, HGNC:HGNC:31440, ModBase:Q5SQS7, NCBI Gene:387694, RefSeq DNA:NT_030059, RefSeq Protein:NP_001139191, RefSeq Protein:NP_997255, RefSeq RNA:NM_001145719, RefSeq RNA:NM_207372, UniProtKB:Q5SQS7 No chr10 82297658 82406316 80537902 80646560 +PA142670927 400745 HGNC:28819 ENSG00000189410 SH2 domain containing 5 SH2D5 Yes Yes Ensembl:ENSG00000189410, GeneCard:SH2D5, HGNC:HGNC:28819, ModBase:Q6ZV89, NCBI Gene:400745, RefSeq DNA:NT_004610, RefSeq Protein:NP_001096630, RefSeq Protein:NP_001096631, RefSeq RNA:NM_001103160, RefSeq RNA:NM_001103161, UniProtKB:B7Z3W3, UniProtKB:Q6ZV89 No chr1 21046225 21059133 20719731 20732640 +PA162403243 284948 HGNC:30439 ENSG00000152292 SH2 domain containing 6 SH2D6 SH2 linker protein related to BLNK FLJ35993, SLNK Yes No Ensembl:ENSG00000152292, GeneCard:SH2D6, HGNC:HGNC:30439, ModBase:Q7Z4S9, NCBI Gene:284948, RefSeq DNA:NT_022184, RefSeq Protein:NP_940884, RefSeq RNA:NM_198482, UniProtKB:Q7Z4S9 No chr2 85660108 85664180 85418931 85437029 +PA164725681 646892 HGNC:34549 ENSG00000183476 SH2 domain containing 7 SH2D7 LOC646892 Yes No Ensembl:ENSG00000183476, GeneCard:SH2D7, HGNC:HGNC:34549, ModBase:A6NKC9, NCBI Gene:646892, RefSeq DNA:NT_010194, RefSeq Protein:NP_001094874, RefSeq RNA:NM_001101404, UniProtKB:A6NKC9 No chr15 78384927 78396393 78089895 78104051 +PA35730 6450 HGNC:10822 ENSG00000185437 SH3 domain binding glutamate rich protein SH3BGR 21-glutamic acid-rich protein, SH3 domain binding glutamate-rich protein, SH3 domain binding glutamic acid-rich protein 21-GARP Yes No Comparative Toxicogenomics Database:6450, Ensembl:ENSG00000185437, GenAtlas:SH3BGR, GeneCard:SH3BGR, HGNC:HGNC:10822, ModBase:P55822, NCBI Gene:6450, OMIM:602230, RefSeq DNA:NT_011512, RefSeq Protein:NP_001001713, RefSeq Protein:NP_031367, RefSeq RNA:NM_001001713, RefSeq RNA:NM_007341, UCSC Genome Browser:NM_007341, UniProtKB:A6ND59, UniProtKB:P55822 No chr21 40817797 40887433 39445865 39515506 +PA35731 6451 HGNC:10823 ENSG00000131171 SH3 domain binding glutamate rich protein like SH3BGRL SH3 domain binding glutamate-rich protein like, SH3 domain binding glutamic acid-rich protein like MGC117402 Yes No Ensembl:ENSG00000131171, GenAtlas:SH3BGRL, GeneCard:SH3BGRL, HGNC:HGNC:10823, HumanCyc Gene:HS05497, ModBase:O75368, NCBI Gene:6451, OMIM:300190, RefSeq DNA:NT_011651, RefSeq Protein:NP_003013, RefSeq RNA:NM_003022, UCSC Genome Browser:NM_003022, UniProtKB:O75368 No chrX 80457303 80554046 81201804 81298547 +PA37978 83699 HGNC:15567 ENSG00000198478 SH3 domain binding glutamate rich protein like 2 SH3BGRL2 SH3 domain binding glutamate-rich protein like 2, SH3 domain binding glutamic acid-rich protein like 2 Yes No Ensembl:ENSG00000198478, GenAtlas:SH3BGRL2, GeneCard:SH3BGRL2, HGNC:HGNC:15567, ModBase:Q9UJC5, NCBI Gene:83699, RefSeq DNA:NT_007299, RefSeq Protein:NP_113657, RefSeq RNA:NM_031469, UCSC Genome Browser:NM_031469, UniProtKB:Q9UJC5 No chr6 80341000 80413369 79537561 79703670 +PA37979 83442 HGNC:15568 ENSG00000142669 SH3 domain binding glutamate rich protein like 3 SH3BGRL3 SH3 domain binding glutamate-rich protein like 3, SH3 domain binding glutamic acid-rich protein like 3 Yes No Comparative Toxicogenomics Database:83442, Ensembl:ENSG00000142669, GenAtlas:SH3BGRL3, GeneCard:SH3BGRL3, HGNC:HGNC:15568, HumanCyc Gene:HS06950, ModBase:Q9H299, NCBI Gene:83442, RefSeq DNA:NT_004610, RefSeq Protein:NP_112576, RefSeq RNA:NM_031286, UCSC Genome Browser:NM_031286, UniProtKB:Q9H299 No chr1 26606213 26608013 26279722 26281522 +PA35732 23616 HGNC:10824 ENSG00000100092 SH3 domain binding protein 1 SH3BP1 SH3-domain binding protein 1 ARHGAP43 Yes No Comparative Toxicogenomics Database:23616, Ensembl:ENSG00000100092, GenAtlas:SH3BP1, GeneCard:SH3BP1, HGNC:HGNC:10824, HumanCyc Gene:HS01974, ModBase:Q9Y3L3, NCBI Gene:23616, RefSeq DNA:NT_011520, RefSeq Protein:NP_061830, RefSeq RNA:NM_018957, UCSC Genome Browser:NM_018957, UniProtKB:Q9Y3L3 No chr22 38030661 38052119 37639677 37656043 +PA35733 6452 HGNC:10825 ENSG00000087266 SH3 domain binding protein 2 SH3BP2 SH3-domain binding protein 2 CRBM, RES4-23 Yes Yes Comparative Toxicogenomics Database:6452, Ensembl:ENSG00000087266, GenAtlas:SH3BP2, GeneCard:SH3BP2, HGNC:HGNC:10825, HumanCyc Gene:HS01570, ModBase:P78314, NCBI Gene:6452, OMIM:118400, OMIM:602104, RefSeq DNA:NG_011609, RefSeq DNA:NT_006051, RefSeq Protein:NP_001116153, RefSeq Protein:NP_001139327, RefSeq Protein:NP_001139328, RefSeq Protein:NP_003014, RefSeq RNA:NM_001122681, RefSeq RNA:NM_001145855, RefSeq RNA:NM_001145856, RefSeq RNA:NM_003023, UCSC Genome Browser:NM_003023, UniProtKB:B4DT04, UniProtKB:P78314 No chr4 2794750 2842823 2793023 2841096 +PA35734 23677 HGNC:10826 ENSG00000130147 SH3 domain binding protein 4 SH3BP4 SH3-domain binding protein 4 Yes No Comparative Toxicogenomics Database:23677, Ensembl:ENSG00000130147, GenAtlas:SH3BP4, GeneCard:SH3BP4, HGNC:HGNC:10826, HumanCyc Gene:HS05342, ModBase:Q9P0V3, NCBI Gene:23677, OMIM:605611, RefSeq DNA:NT_005120, RefSeq Protein:NP_055336, RefSeq RNA:NM_014521, UCSC Genome Browser:NM_014521, UniProtKB:Q9P0V3 No chr2 235860628 235964358 234951984 235055714 +PA35735 9467 HGNC:10827 ENSG00000131370 SH3 domain binding protein 5 SH3BP5 SH3 binding protein, SH3-domain binding protein 5 (BTK-associated) Sab Yes No Comparative Toxicogenomics Database:9467, Ensembl:ENSG00000131370, GenAtlas:SH3BP5, GeneCard:SH3BP5, HGNC:HGNC:10827, HumanCyc Gene:HS05515, ModBase:O60239, NCBI Gene:9467, OMIM:605612, RefSeq DNA:NT_022517, RefSeq Protein:NP_001018009, RefSeq Protein:NP_004835, RefSeq RNA:NM_001018009, RefSeq RNA:NM_004844, UCSC Genome Browser:NM_004844, UniProtKB:B3KQW6, UniProtKB:O60239 No chr3 15295860 15382901 15254353 15341394 +PA142670923 80851 HGNC:29360 ENSG00000175137 SH3 binding domain protein 5 like SH3BP5L SH3-binding domain protein 5-like KIAA1720 Yes No Ensembl:ENSG00000175137, GeneCard:SH3BP5L, HGNC:HGNC:29360, HumanCyc Gene:HS16435, ModBase:Q7L8J4, NCBI Gene:80851, RefSeq DNA:NT_032968, RefSeq Protein:NP_085148, RefSeq RNA:NM_030645, UniProtKB:Q7L8J4 No chr1 249104645 249120154 248810446 248826285 +PA162403244 152503 HGNC:30418 ENSG00000109686 SH3 domain containing 19 SH3D19 EEN binding protein DKFZp434D0215, EBP, EVE1, Eve-1, Kryn, SH3P19 Yes No Ensembl:ENSG00000109686, GeneCard:SH3D19, HGNC:HGNC:30418, NCBI Gene:152503, OMIM:608674, RefSeq DNA:NT_016354, RefSeq Protein:NP_001009555, RefSeq Protein:NP_001122395, RefSeq Protein:NP_001122396, RefSeq RNA:NM_001009555, RefSeq RNA:NM_001128923, RefSeq RNA:NM_001128924, UniProtKB:Q5HYK7 No chr4 152041433 152246797 151120281 151228030 +PA142672497 79729 HGNC:26236 ENSG00000214193 SH3 domain containing 21 SH3D21 C1orf113, FLJ22938 Yes No Ensembl:ENSG00000214193, GeneCard:C1orf113, HGNC:HGNC:26236, HumanCyc Gene:HS12885, NCBI Gene:79729, RefSeq DNA:NT_032977, RefSeq Protein:NP_001156002, RefSeq Protein:NP_078952, RefSeq RNA:NM_001162530, RefSeq RNA:NM_024676, UniProtKB:B4DLI6 No chr1 36771889 36793544 36306348 36329221 +PA35736 6455 HGNC:10830 ENSG00000141985 SH3 domain containing GRB2 like 1, endophilin A2 SH3GL1 SH3 domain GRB2-like 1, SH3-containing Grb-2-like 1 protein, SH3-containing protein EEN, SH3-domain GRB2-like 1, endophilin A2, extra 11-19 leukemia fusion, fusion partner of MLL CNSA1, EEN, MGC111371, SH3D2B, SH3P8 Yes No Comparative Toxicogenomics Database:6455, Ensembl:ENSG00000141985, GenAtlas:SH3GL1, GeneCard:SH3GL1, HGNC:HGNC:10830, HumanCyc Gene:HS06885, ModBase:Q99961, NCBI Gene:6455, OMIM:601626, OMIM:601768, RefSeq DNA:NT_011255, RefSeq Protein:NP_001186872, RefSeq Protein:NP_001186873, RefSeq Protein:NP_003016, RefSeq RNA:NM_001199943, RefSeq RNA:NM_001199944, RefSeq RNA:NM_003025, UCSC Genome Browser:NM_003025, UniProtKB:Q6FGM0, UniProtKB:Q99961 No chr19 4360364 4400565 4360367 4400568 +PA35741 6458 HGNC:10835 ENSG00000266777 SH3-domain GRB2-like 1 pseudogene 1 SH3GL1P1 CNSA-P1 Yes No Ensembl:ENSG00000266777, GenAtlas:SH3GLP1, GeneCard:SH3GL1P1, HGNC:HGNC:10835, NCBI Gene:6458, RefSeq DNA:NG_006135, RefSeq DNA:NT_010799, RefSeq RNA:NR_033412 No chr17 30367355 30369851 32040336 32042832 +PA35742 6459 HGNC:10836 ENSG00000264943 SH3-domain GRB2-like 1 pseudogene 2 SH3GL1P2 CNSA-P2 Yes No Ensembl:ENSG00000264943, GenAtlas:SH3GLP2, GeneCard:SH3GL1P2, HGNC:HGNC:10836, NCBI Gene:6459, RefSeq DNA:NG_005642, RefSeq DNA:NT_010799, RefSeq RNA:NR_033420 No chr17 28951336 28953841 30624318 30626823 +PA35743 727736 HGNC:10837 ENSG00000267352 SH3-domain GRB2-like 1 pseudogene 3 SH3GL1P3 CNSA-P3 Yes No Ensembl:ENSG00000267352, GenAtlas:SH3GLP3, GeneCard:SH3GL1P3, HGNC:HGNC:10837, NCBI Gene:727736, RefSeq DNA:NG_005643, RefSeq DNA:NG_011727, RefSeq DNA:NT_010641 No chr17 66129357 66131906 68133216 68135668 +PA35737 6456 HGNC:10831 ENSG00000107295 SH3 domain containing GRB2 like 2, endophilin A1 SH3GL2 SH3-domain GRB2-like 2, endophilin-A1 CNSA2, EEN-B1, SH3D2A, SH3P4 Yes No Comparative Toxicogenomics Database:6456, Ensembl:ENSG00000107295, GenAtlas:SH3GL2, GeneCard:SH3GL2, HGNC:HGNC:10831, HumanCyc Gene:HS02987, ModBase:Q99962, NCBI Gene:6456, OMIM:604465, RefSeq DNA:NT_008413, RefSeq Protein:NP_003017, RefSeq RNA:NM_003026, UCSC Genome Browser:NM_003026, UniProtKB:Q7Z376, UniProtKB:Q8IZ09, UniProtKB:Q99962 No chr9 17578953 17797122 17578954 17797129 +PA35738 6457 HGNC:10832 ENSG00000140600 SH3 domain containing GRB2 like 3, endophilin A3 SH3GL3 SH3-domain GRB2-like 3, endophilin A3 CNSA3, EEN-B2, HsT19371, SH3D2C, SH3P13 Yes No Comparative Toxicogenomics Database:6457, Ensembl:ENSG00000140600, GenAtlas:SH3GL3, GeneCard:SH3GL3, HGNC:HGNC:10832, HumanCyc Gene:HS06744, ModBase:Q99963, NCBI Gene:6457, OMIM:603362, RefSeq DNA:NT_077661, RefSeq Protein:NP_003018, RefSeq RNA:NM_003027, RefSeq RNA:NR_026799, UCSC Genome Browser:NM_003027, UniProtKB:Q99963 No chr15 84116091 84287495 83447123 83618743 +PA35739 51100 HGNC:10833 ENSG00000097033 SH3 domain containing GRB2 like, endophilin B1 SH3GLB1 """SH3-domain GRB2-like endophilin B1"", ""protein phosphatase 1, regulatory subunit 70""" Bif-1, CGI-61, KIAA0491, PPP1R70 Yes No Ensembl:ENSG00000097033, GenAtlas:SH3GLB1, GeneCard:SH3GLB1, HGNC:HGNC:10833, HumanCyc Gene:HS12363, ModBase:Q9Y371, NCBI Gene:51100, OMIM:609287, RefSeq DNA:NT_032977, RefSeq Protein:NP_001193580, RefSeq Protein:NP_001193581, RefSeq Protein:NP_001193582, RefSeq Protein:NP_057093, RefSeq RNA:NM_001206651, RefSeq RNA:NM_001206652, RefSeq RNA:NM_001206653, RefSeq RNA:NM_016009, UCSC Genome Browser:NM_016009, UniProtKB:Q9Y371 No chr1 87170253 87213867 86704570 86748184 +PA35740 56904 HGNC:10834 ENSG00000148341 SH3 domain containing GRB2 like, endophilin B2 SH3GLB2 SH3-domain GRB2-like endophilin B2 KIAA1848 Yes No Comparative Toxicogenomics Database:56904, Ensembl:ENSG00000148341, GenAtlas:SH3GLB2, GeneCard:SH3GLB2, HGNC:HGNC:10834, HumanCyc Gene:HS14237, ModBase:Q9NR46, NCBI Gene:56904, OMIM:609288, RefSeq DNA:NT_008470, RefSeq Protein:NP_064530, RefSeq RNA:NM_020145, UCSC Genome Browser:NM_020145, UniProtKB:Q9NR46 No chr9 131770313 131790604 129007792 129028353 +PA37822 30011 HGNC:13867 ENSG00000147010 SH3 domain containing kinase binding protein 1 SH3KBP1 Cbl-interacting protein of 85 kDa, SH3-domain kinase binding protein 1 CIN85 Yes No Comparative Toxicogenomics Database:30011, Ensembl:ENSG00000147010, GenAtlas:SH3KBP1, GeneCard:SH3KBP1, HGNC:HGNC:13867, HumanCyc Gene:HS14189, ModBase:Q96B97, NCBI Gene:30011, OMIM:300374, RefSeq DNA:NG_021367, RefSeq DNA:NT_167197, RefSeq Protein:NP_001019837, RefSeq Protein:NP_001171889, RefSeq Protein:NP_114098, RefSeq RNA:NM_001024666, RefSeq RNA:NM_001184960, RefSeq RNA:NM_031892, UCSC Genome Browser:NM_031892, UniProtKB:Q5JPT4, UniProtKB:Q5JPT5, UniProtKB:Q5JPT6, UniProtKB:Q96B97 No chrX 19552083 19905744 19533965 19887626 +PA134956816 9644 HGNC:23664 ENSG00000107957 SH3 and PX domains 2A SH3PXD2A five SH3 domains FISH, KIAA0418, SH3MD1 Yes No Comparative Toxicogenomics Database:9644, Ensembl:ENSG00000107957, GeneCard:SH3PXD2A, HGNC:HGNC:23664, HumanCyc Gene:HS12666, ModBase:Q5TCZ1, NCBI Gene:9644, RefSeq DNA:NT_030059, RefSeq Protein:NP_055446, RefSeq RNA:NM_014631, UniProtKB:B3KPL1, UniProtKB:Q5TCZ1 No chr10 105353784 105615195 103594027 103855464 +PA134864119 285590 HGNC:29242 ENSG00000174705 SH3 and PX domains 2B SH3PXD2B FLJ20831, KIAA1295 Yes No Comparative Toxicogenomics Database:285590, Ensembl:ENSG00000174705, GeneCard:SH3PXD2B, HGNC:HGNC:29242, NCBI Gene:285590, OMIM:249420, OMIM:613293, RefSeq DNA:NT_023133, RefSeq Protein:NP_001017995, RefSeq RNA:NM_001017995, UniProtKB:A1X283 No chr5 171752185 171881527 172325181 172454523 +PA134915904 57630 HGNC:17650 ENSG00000154447 SH3 domain containing ring finger 1 SH3RF1 plenty of SH3 domains KIAA1494, POSH, RNF142, SH3MD2 Yes No Ensembl:ENSG00000154447, GeneCard:SH3RF1, HGNC:HGNC:17650, ModBase:Q7Z6J0, NCBI Gene:57630, RefSeq DNA:NT_016354, RefSeq Protein:NP_065921, RefSeq RNA:NM_020870, UniProtKB:Q7Z6J0 No chr4 170015407 170192249 169094256 169271098 +PA134944983 153769 HGNC:26299 ENSG00000156463 SH3 domain containing ring finger 2 SH3RF2 POSH-eliminating RING protein, heart protein phosphatase 1-binding protein FLJ23654, Hepp1, POSHER, PPP1R39, RNF158 Yes No Ensembl:ENSG00000156463, GeneCard:SH3RF2, HGNC:HGNC:26299, HumanCyc Gene:HS14617, ModBase:Q8TEC5, NCBI Gene:153769, OMIM:613377, RefSeq DNA:NT_029289, RefSeq Protein:NP_689763, RefSeq RNA:NM_152550, UniProtKB:Q08AM8, UniProtKB:Q8TEC5 No chr5 145316126 145458680 145936563 146081773 +PA162403291 344558 HGNC:24699 ENSG00000172985 SH3 domain containing ring finger 3 SH3RF3 FLJ00204, POSH2, SH3MD4 Yes No Ensembl:ENSG00000172985, GeneCard:SH3RF3, HGNC:HGNC:24699, ModBase:Q8TEJ3, NCBI Gene:344558, RefSeq DNA:NT_022135, RefSeq DNA:NT_022171, RefSeq Protein:NP_001092759, RefSeq RNA:NM_001099289, UniProtKB:Q8TEJ3 No chr2 +PA128394666 54436 HGNC:26009 ENSG00000125089 SH3 domain and tetratricopeptide repeats 1 SH3TC1 FLJ20356 Yes No Comparative Toxicogenomics Database:54436, Ensembl:ENSG00000125089, GeneCard:SH3TC1, HGNC:HGNC:26009, HumanCyc Gene:HS13153, ModBase:Q8TE82, NCBI Gene:54436, RefSeq DNA:NT_006051, RefSeq Protein:NP_061859, RefSeq RNA:NM_018986, UCSC Genome Browser:NM_018986, UniProtKB:B3KWX8, UniProtKB:Q8TE82 No chr4 8201060 8242830 8182072 8241103 +PA134951912 79628 HGNC:29427 ENSG00000169247 SH3 domain and tetratricopeptide repeats 2 SH3TC2 CMT4C, KIAA1985 Yes No Comparative Toxicogenomics Database:79628, Ensembl:ENSG00000169247, GeneCard:SH3TC2, HGNC:HGNC:29427, ModBase:Q8TF17, NCBI Gene:79628, OMIM:601596, OMIM:608206, OMIM:613353, RefSeq DNA:NG_007947, RefSeq DNA:NT_029289, RefSeq Protein:NP_078853, RefSeq RNA:NM_024577, UniProtKB:Q8TF17 No chr5 148361713 148442737 148982150 149063174 +PA128394643 26751 HGNC:29546 ENSG00000035115 SH3 and SYLF domain containing 1 SH3YL1 SH3 domain containing, Ysc84-like 1 (S. cerevisiae) DKFZP586F1318, Ray Yes No Comparative Toxicogenomics Database:26751, Ensembl:ENSG00000035115, GeneCard:SH3YL1, HGNC:HGNC:29546, HumanCyc Gene:HS12082, ModBase:Q96HL8, NCBI Gene:26751, RefSeq DNA:NT_022221, RefSeq Protein:NP_001153069, RefSeq Protein:NP_056492, RefSeq RNA:NM_001159597, RefSeq RNA:NM_015677, UCSC Genome Browser:NM_015677, UniProtKB:Q96HL8 No chr2 218136 264820 218136 264866 +PA37965 50944 HGNC:15474 ENSG00000161681 SH3 and multiple ankyrin repeat domains 1 SHANK1 somatostatin receptor-interacting protein SPANK-1, SSTRIP, synamon Yes No Ensembl:ENSG00000161681, GenAtlas:SHANK1, GeneCard:SHANK1, HGNC:HGNC:15474, HumanCyc Gene:HS08608, ModBase:Q9Y566, NCBI Gene:50944, OMIM:604999, RefSeq DNA:NT_011109, RefSeq Protein:NP_057232, RefSeq RNA:NM_016148, UCSC Genome Browser:NM_016148, UniProtKB:Q9Y566 No chr19 51163052 51220195 50659257 50719779 +PA37867 22941 HGNC:14295 ENSG00000162105 SH3 and multiple ankyrin repeat domains 2 SHANK2 CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3 Yes No Comparative Toxicogenomics Database:22941, Ensembl:ENSG00000162105, GenAtlas:SHANK2, GeneCard:SHANK2, HGNC:HGNC:14295, HumanCyc Gene:HS08644, ModBase:Q9UPX8, NCBI Gene:22941, OMIM:603290, RefSeq DNA:NT_167190, RefSeq Protein:NP_036441, RefSeq Protein:NP_573573, RefSeq RNA:NM_012309, RefSeq RNA:NM_133266, UCSC Genome Browser:NM_012309, UniProtKB:C0SPH0, UniProtKB:Q9UPX8 No chr11 70313961 70935808 70467856 71252724 +PA144596495 220070 HGNC:25098 ENSG00000171671 SHANK2 antisense RNA 3 SHANK2-AS3 Yes No Ensembl:ENSG00000171671, GeneCard:SHANK2-AS3, HGNC:HGNC:25098, HumanCyc Gene:HS16010, NCBI Gene:220070, RefSeq DNA:NT_167190, RefSeq RNA:XR_041798, RefSeq RNA:XR_041799, RefSeq RNA:XR_041800, RefSeq RNA:XR_110890 No chr11 70708895 70711220 70862790 70865115 +PA37866 85358 HGNC:14294 ENSG00000251322 SH3 and multiple ankyrin repeat domains 3 SHANK3 proline rich synapse associated protein 2, shank postsynaptic density protein, shank3 postsynaptic density protein KIAA1650, PSAP2, SPANK-2, prosap2 Yes No Comparative Toxicogenomics Database:85358, Ensembl:ENSG00000251322, GenAtlas:SHANK3, GeneCard:SHANK3, HGNC:HGNC:14294, HumanCyc Gene:HS01925, NCBI Gene:85358, OMIM:606230, OMIM:606232, RefSeq DNA:NG_008607, RefSeq DNA:NT_011526, RefSeq Protein:NP_001073889, RefSeq RNA:NM_001080420 No chr22 51113070 51171640 50674642 50733212 +PA142670925 81858 HGNC:25321 ENSG00000179526 SHANK associated RH domain interactor SHARPIN SHANK-associated RH domain interactor DKFZP434N1923, SIPL1 Yes No Ensembl:ENSG00000179526, GeneCard:SHARPIN, HGNC:HGNC:25321, HumanCyc Gene:HS17300, ModBase:Q9H0F6, NCBI Gene:81858, OMIM:611885, RefSeq DNA:NT_008046, RefSeq Protein:NP_112236, RefSeq RNA:NM_030974, RefSeq RNA:NR_038270, UniProtKB:C0L3L2, UniProtKB:Q6PJD5, UniProtKB:Q9H0F6 No chr8 145153536 145159140 144098633 144104265 +PA35744 6461 HGNC:10838 ENSG00000107338 SH2 domain containing adaptor protein B SHB Src homology 2 domain containing adaptor protein B Yes No Comparative Toxicogenomics Database:6461, Ensembl:ENSG00000107338, GenAtlas:SHB, GeneCard:SHB, HGNC:HGNC:10838, HumanCyc Gene:HS02991, ModBase:Q15464, NCBI Gene:6461, OMIM:600314, RefSeq DNA:NT_008413, RefSeq Protein:NP_003019, RefSeq RNA:NM_003028, UCSC Genome Browser:NM_003028, UniProtKB:Q15464 No chr9 37915895 38069210 37915898 38069213 +PA35745 6462 HGNC:10839 ENSG00000129214 sex hormone binding globulin SHBG androgen binding protein, sex hormone-binding globulin ABP, MGC126834, MGC138391, TEBG Yes No Comparative Toxicogenomics Database:6462, Ensembl:ENSG00000129214, GenAtlas:SHBG, GeneCard:SHBG, HGNC:HGNC:10839, HumanCyc Gene:HS05255, ModBase:P04278, NCBI Gene:6462, OMIM:182205, RefSeq DNA:NG_011981, RefSeq DNA:NT_010718, RefSeq Protein:NP_001031, RefSeq Protein:NP_001139751, RefSeq Protein:NP_001139752, RefSeq Protein:NP_001139753, RefSeq RNA:NM_001040, RefSeq RNA:NM_001146279, RefSeq RNA:NM_001146280, RefSeq RNA:NM_001146281, RefSeq RNA:NR_027462, RefSeq RNA:NR_027463, UCSC Genome Browser:NM_001040, UniProtKB:B0FWH2, UniProtKB:B0FWH4, UniProtKB:P04278 No chr17 7517382 7536700 7614064 7633383 +PA35746 6464 HGNC:10840 ENSG00000160691 SHC adaptor protein 1 SHC1 SHC (Src homology 2 domain containing) transforming protein 1 SHC, ShcA, p66 Yes No Comparative Toxicogenomics Database:6464, Ensembl:ENSG00000160691, GenAtlas:SHC1, GeneCard:SHC1, HGNC:HGNC:10840, HumanCyc Gene:HS08521, ModBase:Q96CL1, NCBI Gene:6464, OMIM:600560, RefSeq DNA:NT_004487, RefSeq Protein:NP_001123512, RefSeq Protein:NP_001123513, RefSeq Protein:NP_001189788, RefSeq Protein:NP_003020, RefSeq Protein:NP_892113, RefSeq RNA:NM_001130040, RefSeq RNA:NM_001130041, RefSeq RNA:NM_001202859, RefSeq RNA:NM_003029, RefSeq RNA:NM_183001, UCSC Genome Browser:NM_003029, UniProtKB:P29353 No chr1 154934774 154946959 154962298 154974492 +PA35747 6465 HGNC:10841 ENSG00000230889 SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 1 SHC1P1 Yes No Ensembl:ENSG00000230889, GenAtlas:SHC1P1, GeneCard:SHC1P1, HGNC:HGNC:10841, NCBI Gene:6465, RefSeq DNA:NG_001195, RefSeq DNA:NT_011669 No chrX 63652063 63655554 64432183 64435674 +PA35748 6466 HGNC:10842 ENSG00000267691 SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 2 SHC1P2 Yes No Ensembl:ENSG00000267691, GenAtlas:SHCL1, GeneCard:SHC1P2, HGNC:HGNC:10842, NCBI Gene:6466, OMIM:600739, RefSeq DNA:NG_004765, RefSeq DNA:NT_010783 No chr17 42304329 42307918 44226961 44230550 +PA134971076 25759 HGNC:29869 ENSG00000129946 SHC adaptor protein 2 SHC2 SHC (Src homology 2 domain containing) transforming protein 2, neuronal Shc adaptor homolog SCK, SHCB, SLI Yes No Ensembl:ENSG00000129946, GeneCard:SHC2, HGNC:HGNC:29869, NCBI Gene:25759, OMIM:605217, RefSeq DNA:NT_011255, RefSeq Protein:NP_036567, RefSeq RNA:NM_012435, UniProtKB:P98077 No chr19 416583 460996 416583 461011 +PA134913435 53358 HGNC:18181 ENSG00000148082 SHC adaptor protein 3 SHC3 SHC (Src homology 2 domain containing) transforming protein 3 N-Shc, NSHC, SHCC Yes No Comparative Toxicogenomics Database:53358, Ensembl:ENSG00000148082, GeneCard:SHC3, HGNC:HGNC:18181, HumanCyc Gene:HS07489, ModBase:Q92529, NCBI Gene:53358, OMIM:605263, RefSeq DNA:NT_008470, RefSeq Protein:NP_058544, RefSeq RNA:NM_016848, UniProtKB:Q92529 No chr9 91620686 91793682 89005771 89182308 +PA142670917 399694 HGNC:16743 ENSG00000185634 SHC adaptor protein 4 SHC4 """SHC (Src homology 2 domain containing) family, member 4"", ""rai-like protein""" RaLP, SHCD Yes No Ensembl:ENSG00000185634, GeneCard:SHC4, HGNC:HGNC:16743, ModBase:Q6S5L8, NCBI Gene:399694, RefSeq DNA:NT_010194, RefSeq Protein:NP_976224, RefSeq RNA:NM_203349, UniProtKB:Q6S5L8 No chr15 49115934 49255641 48823737 48963444 +PA134931125 79801 HGNC:29547 ENSG00000171241 SHC binding and spindle associated 1 SHCBP1 Protein expressed in Activated Lymphocytes, SHC SH2-domain binding protein 1 FLJ22009, PAL Yes No Comparative Toxicogenomics Database:79801, Ensembl:ENSG00000171241, GeneCard:SHCBP1, HGNC:HGNC:29547, HumanCyc Gene:HS15968, ModBase:Q8NEM2, NCBI Gene:79801, OMIM:611027, RefSeq DNA:NT_010498, RefSeq Protein:NP_079021, RefSeq RNA:NM_024745, UniProtKB:Q8NEM2 No chr16 46614466 46655311 46578591 46624933 +PA25603 81626 HGNC:16788 ENSG00000157060 SHC binding and spindle associated 1 like SHCBP1L SHC SH2-domain binding protein 1-like C1orf14 Yes No Ensembl:ENSG00000157060, GenAtlas:C1orf14, GeneCard:C1orf14, HGNC:HGNC:16788, HumanCyc Gene:HS14649, NCBI Gene:81626, RefSeq DNA:NT_004487, RefSeq Protein:NP_112195, RefSeq RNA:NM_030933, UCSC Genome Browser:NM_030933, UniProtKB:Q9BZQ2 No chr1 182869000 182922553 182899865 182953418 +PA142670918 56961 HGNC:30633 ENSG00000105251 Src homology 2 domain containing transforming protein D SHD Yes No Ensembl:ENSG00000105251, GeneCard:SHD, HGNC:HGNC:30633, ModBase:Q96IW2, NCBI Gene:56961, OMIM:610481, RefSeq DNA:NT_011255, RefSeq Protein:NP_064594, RefSeq RNA:NM_020209, UniProtKB:Q96IW2 No chr19 4278598 4290720 4278601 4290723 +PA142670919 126669 HGNC:27004 ENSG00000169291 Src homology 2 domain containing E SHE Yes No Comparative Toxicogenomics Database:126669, Ensembl:ENSG00000169291, GeneCard:SHE, HGNC:HGNC:27004, ModBase:Q5VZ18, NCBI Gene:126669, OMIM:610482, RefSeq DNA:NT_004487, RefSeq Protein:NP_001010846, RefSeq RNA:NM_001010846, UniProtKB:Q5VZ18 No chr1 154442118 154474786 154469637 154502059 +PA142670920 90525 HGNC:25116 ENSG00000138606 Src homology 2 domain containing F SHF Yes No Ensembl:ENSG00000138606, GeneCard:SHF, HGNC:HGNC:25116, ModBase:Q7M4L6, NCBI Gene:90525, RefSeq DNA:NT_010194, RefSeq Protein:NP_612365, RefSeq RNA:NM_138356, UniProtKB:B3KTY1 No chr15 45459412 45493373 45167214 45201175 +PA162378809 55337 HGNC:25649 ENSG00000130813 shiftless antiviral inhibitor of ribosomal frameshifting SHFL Repressor of yield of Dengue virus, chromosome 19 open reading frame 66, interferon-regulated antiviral gene, shiftless C19orf66, FLJ11286, IRAV, RyDEN, SFL Yes No Ensembl:ENSG00000130813, GeneCard:C19orf66, HGNC:HGNC:25649, HumanCyc Gene:HS13356, ModBase:Q9NUL5, NCBI Gene:55337, RefSeq DNA:NT_011295, RefSeq Protein:NP_060851, RefSeq RNA:NM_018381, UniProtKB:Q9NUL5 No chr19 10196806 10203928 10086119 10093252 +PA35752 6469 HGNC:10848 ENSG00000164690 sonic hedgehog signaling molecule SHH sonic hedgehog HHG1, HLP3, HPE3, MCOPCB5, SMMCI, TPT, TPTPS Yes No Comparative Toxicogenomics Database:6469, Ensembl:ENSG00000164690, GenAtlas:SHH, GeneCard:SHH, HGNC:HGNC:10848, HumanCyc Gene:HS09117, ModBase:Q15465, NCBI Gene:6469, OMIM:120200, OMIM:142945, OMIM:147250, OMIM:174500, OMIM:600725, OMIM:611638, RefSeq DNA:NG_007504, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_000184, RefSeq RNA:NM_000193, UCSC Genome Browser:NM_000193, UniProtKB:Q15465 No chr7 155595558 155604967 155799984 155812273 +PA162403292 387914 HGNC:20366 ENSG00000180730 shisa family member 2 SHISA2 shisa homolog 2 (Xenopus laevis) C13orf13, PRO28631, TMEM46, WGAR9166, bA398O19.2, hShisa Yes No Ensembl:ENSG00000180730, GeneCard:SHISA2, HGNC:HGNC:20366, NCBI Gene:387914, RefSeq DNA:NT_024524, RefSeq Protein:NP_001007539, RefSeq RNA:NM_001007538, UniProtKB:Q6UWI4 No chr13 26618735 26625198 26044597 26051060 +PA162403293 152573 HGNC:25159 ENSG00000178343 shisa family member 3 SHISA3 shisa homolog 3 (Xenopus laevis) hShisa3 Yes No Ensembl:ENSG00000178343, GeneCard:SHISA3, HGNC:HGNC:25159, ModBase:A0PJX4, NCBI Gene:152573, RefSeq DNA:NT_006238, RefSeq Protein:NP_001073974, RefSeq RNA:NM_001080505, UniProtKB:A0PJX4 No chr4 42399856 42404504 42397839 42402487 +PA162403294 149345 HGNC:27139 ENSG00000198892 shisa family member 4 SHISA4 shisa homolog 4 (Xenopus laevis) C1orf40, TMEM58, hShisa4 Yes No Ensembl:ENSG00000198892, GeneCard:SHISA4, HGNC:HGNC:27139, NCBI Gene:149345, RefSeq DNA:NT_004487, RefSeq Protein:NP_937792, RefSeq RNA:NM_198149, RefSeq RNA:NR_030775, UniProtKB:Q96DD7 No chr1 201857797 201861715 201888669 201899346 +PA162403295 51246 HGNC:30376 ENSG00000164054 shisa family member 5 SHISA5 shisa homolog 5 (Xenopus laevis) SCOTIN, hShisa5 Yes No Ensembl:ENSG00000164054, GeneCard:SHISA5, HGNC:HGNC:30376, HumanCyc Gene:HS08994, ModBase:Q8N114, NCBI Gene:51246, OMIM:607290, RefSeq DNA:NT_022517, RefSeq Protein:NP_057563, RefSeq RNA:NM_016479, UniProtKB:Q8N114 No chr3 48509197 48542259 48467798 48504826 +PA165432740 388336 HGNC:34491 ENSG00000188803 shisa family member 6 SHISA6 shisa homolog 6 (Xenopus laevis) FLJ45455 Yes No Ensembl:ENSG00000188803, GeneCard:SHISA6, HGNC:HGNC:34491, NCBI Gene:388336, RefSeq DNA:NT_010718, RefSeq Protein:NP_001166932, RefSeq Protein:NP_001166933, RefSeq Protein:NP_997269, RefSeq RNA:NM_001173461, RefSeq RNA:NM_001173462, RefSeq RNA:NM_207386, UniProtKB:B3KXV5, UniProtKB:Q6ZSJ9 No chr17 11144740 11467380 11241423 11564063 +PA165394299 729956 HGNC:35409 ENSG00000187902 shisa family member 7 SHISA7 shisa homolog 7 (Xenopus laevis) Yes No Ensembl:ENSG00000187902, GeneCard:SHISA7, HGNC:HGNC:35409, NCBI Gene:729956, RefSeq DNA:NT_011109, RefSeq Protein:NP_001138648, RefSeq RNA:NM_001145176, UniProtKB:A6NL88 No chr19 55940105 55954230 55428738 55442863 +PA165378367 440829 HGNC:18351 ENSG00000234965 shisa family member 8 SHISA8 shisa homolog 8 (Xenopus laevis) C22orf17, Orf26 Yes No Ensembl:ENSG00000234965, GeneCard:SHISA8, HGNC:HGNC:18351, NCBI Gene:440829, RefSeq DNA:NT_011520, RefSeq Protein:NP_001193949, RefSeq Protein:XP_496530, RefSeq Protein:XP_945572, RefSeq RNA:NM_001207020, RefSeq RNA:XM_496530, RefSeq RNA:XM_940479, UniProtKB:B8ZZ34 No chr22 42305558 42310671 41907180 41915093 +PA165450677 729993 HGNC:37231 ENSG00000237515 shisa family member 9 SHISA9 shisa homolog 9 (Xenopus laevis) Yes No Ensembl:ENSG00000237515, GeneCard:SHISA9, HGNC:HGNC:37231, NCBI Gene:729993, OMIM:613346, RefSeq DNA:NT_010393, RefSeq Protein:NP_001138676, RefSeq Protein:NP_001138677, RefSeq RNA:NM_001145204, RefSeq RNA:NM_001145205, UniProtKB:B4DS77 No chr16 12995477 13334273 12901619 13563427 +PA164721896 85352 HGNC:29335 ENSG00000138944 shisa like 1 SHISAL1 KIAA1644 Yes No Ensembl:ENSG00000138944, GeneCard:KIAA1644, HGNC:HGNC:29335, NCBI Gene:85352, RefSeq DNA:NT_011520, RefSeq Protein:NP_001092764, RefSeq RNA:NM_001099294, UniProtKB:Q3SXP7 No chr22 44639545 44727470 44243665 44331693 +PA162386717 348378 HGNC:28757 ENSG00000182183 shisa like 2A SHISAL2A family with sequence similarity 159, member A FAM159A, MGC52498 Yes No Ensembl:ENSG00000182183, GeneCard:FAM159A, HGNC:HGNC:28757, ModBase:Q6UWV7, NCBI Gene:348378, RefSeq DNA:NT_032977, RefSeq Protein:NP_001036158, RefSeq RNA:NM_001042693, UniProtKB:Q6UWV7 No chr1 53098961 53133252 52631438 52669120 +PA162386728 100132916 HGNC:34236 ENSG00000145642 shisa like 2B SHISAL2B family with sequence similarity 159, member B FAM159B Yes No Ensembl:ENSG00000145642, GeneCard:FAM159B, HGNC:HGNC:34236, NCBI Gene:100132916, RefSeq DNA:NT_006713, RefSeq Protein:NP_001157914, RefSeq Protein:XP_001720198, RefSeq Protein:XP_001720210, RefSeq Protein:XP_001722833, RefSeq RNA:NM_001164442, RefSeq RNA:XM_001720146, RefSeq RNA:XM_001720158, RefSeq RNA:XM_001722781, UniProtKB:A6NKW6 No chr5 63986135 64014017 64690308 64718190 +PA134954640 92799 HGNC:19214 ENSG00000160410 SH3KBP1 binding protein 1 SHKBP1 PP203, Sb1 Yes No Comparative Toxicogenomics Database:92799, Ensembl:ENSG00000160410, GeneCard:SHKBP1, HGNC:HGNC:19214, HumanCyc Gene:HS08499, ModBase:Q8TBC3, NCBI Gene:92799, RefSeq DNA:NT_011109, RefSeq Protein:NP_612401, RefSeq RNA:NM_138392, UniProtKB:Q8TBC3 No chr19 41082757 41097305 40576851 40591399 +PA145149476 149840 HGNC:26318 ENSG00000171984 shieldin complex subunit 1 SHLD1 chromosome 20 open reading frame 196 C20orf196, FLJ25067, RINN3 Yes No Comparative Toxicogenomics Database:149840, Ensembl:ENSG00000171984, GeneCard:C20orf196, HGNC:HGNC:26318, HumanCyc Gene:HS16045, ModBase:Q8IYI0, NCBI Gene:149840, RefSeq DNA:NT_011387, RefSeq Protein:NP_689717, RefSeq RNA:NM_152504, UniProtKB:Q8IYI0 No chr20 5731043 5844558 5750286 5864407 +PA134926879 54537 HGNC:28773 ENSG00000122376 shieldin complex subunit 2 SHLD2 family with sequence similarity 35, member A FAM35A, FAM35A1, MGC5560, RINN2, bA163M19.1 Yes No Ensembl:ENSG00000122376, GeneCard:FAM35A, HGNC:HGNC:28773, HumanCyc Gene:HS15376, ModBase:Q86V20, NCBI Gene:54537, RefSeq DNA:NT_030059, RefSeq Protein:NP_061927, RefSeq RNA:NM_019054, UniProtKB:Q86V20 No chr10 88854953 88951225 87094478 87191468 +PA166181636 112441434 HGNC:53826 ENSG00000253251 shieldin complex subunit 3 SHLD3 AC008560.1, CTC-534A2.2, FLJ26957, RINN1 Yes No Ensembl:ENSG00000253251, HGNC:HGNC:53826, NCBI Gene:112441434 No 0 0 0 0 +PA35753 6470 HGNC:10850 ENSG00000176974 serine hydroxymethyltransferase 1 SHMT1 14 kDa protein, cytoplasmic serine hydroxymethyltransferase, serine hydroxymethyltransferase 1 (soluble) CSHMT, MGC15229, MGC24556, SHMT Yes Yes Comparative Toxicogenomics Database:6470, Ensembl:ENSG00000176974, GenAtlas:SHMT1, GeneCard:SHMT1, HGNC:HGNC:10850, HumanCyc Gene:HS01069, HumanCyc Gene:HS11114, ModBase:P34896, NCBI Gene:6470, OMIM:182144, RefSeq DNA:NG_017111, RefSeq DNA:NT_010718, RefSeq Protein:NP_004160, RefSeq Protein:NP_683718, RefSeq RNA:NM_004169, RefSeq RNA:NM_148918, UCSC Genome Browser:NM_004169, UniProtKB:P34896 No chr17 18231187 18266856 18327860 18363563 +PA35754 6471 HGNC:10851 ENSG00000224751 serine hydroxymethyltransferase 1 (soluble) pseudogene 1 SHMT1P1 Yes No Ensembl:ENSG00000224751, GenAtlas:SHMT1P, GeneCard:SHMT1P1, HGNC:HGNC:10851, NCBI Gene:6471, RefSeq DNA:NG_002289, RefSeq DNA:NT_032977 No chr1 44315093 44317616 43849421 43851956 +PA35755 6472 HGNC:10852 ENSG00000182199 serine hydroxymethyltransferase 2 SHMT2 mitochondrial serine hydroxymethyltransferase, serine hydroxymethyltransferase 2 (mitochondrial) SHMT, mSHMT Yes No Comparative Toxicogenomics Database:6472, Ensembl:ENSG00000182199, GenAtlas:SHMT2, GeneCard:SHMT2, HGNC:HGNC:10852, HumanCyc Gene:HS00049, ModBase:P34897, NCBI Gene:6472, OMIM:138450, RefSeq DNA:NT_029419, RefSeq Protein:NP_001159828, RefSeq Protein:NP_001159829, RefSeq Protein:NP_001159830, RefSeq Protein:NP_001159831, RefSeq Protein:NP_005403, RefSeq RNA:NM_001166356, RefSeq RNA:NM_001166357, RefSeq RNA:NM_001166358, RefSeq RNA:NM_001166359, RefSeq RNA:NM_005412, RefSeq RNA:NR_029415, RefSeq RNA:NR_029416, RefSeq RNA:NR_029417, UCSC Genome Browser:NM_005412, UniProtKB:B4DJQ3, UniProtKB:B7Z9F1, UniProtKB:P34897, UniProtKB:Q5BJF5, UniProtKB:Q5HYG8, UniProtKB:Q8N1A5 No chr12 57623356 57628718 57229573 57234935 +PA134876692 158401 HGNC:26535 ENSG00000165181 shortage in chiasmata 1 SHOC1 Zip2 homolog (S. cerevisiae), chromosome 9 open reading frame 84 C9orf84, FLJ32779, MZIP2, Zip2 Yes No Ensembl:ENSG00000165181, GeneCard:C9orf84, HGNC:HGNC:26535, HumanCyc Gene:HS15297, ModBase:Q5VXU9, NCBI Gene:158401, RefSeq DNA:NT_008470, RefSeq Protein:NP_001074020, RefSeq Protein:NP_775792, RefSeq RNA:NM_001080551, RefSeq RNA:NM_173521, UniProtKB:A2A2V3, UniProtKB:Q5VXU9, UniProtKB:Q6ZU10 No chr9 114448901 114557556 111686175 111795949 +PA37960 8036 HGNC:15454 ENSG00000108061 SHOC2 leucine rich repeat scaffold protein SHOC2 """SHOC2, leucine rich repeat scaffold protein"", ""soc-2 suppressor of clear homolog (C. elegans)""" KIAA0862, SOC-2, SOC2, SUR-8, SUR8 Yes No Comparative Toxicogenomics Database:8036, Ensembl:ENSG00000108061, GenAtlas:SHOC2, GeneCard:SHOC2, HGNC:HGNC:15454, HumanCyc Gene:HS03060, ModBase:Q9UQ13, NCBI Gene:8036, OMIM:602775, OMIM:607721, RefSeq DNA:NT_030059, RefSeq Protein:NP_031399, RefSeq RNA:NM_007373, UCSC Genome Browser:NM_007373, UniProtKB:Q9UQ13 No chr10 112679301 112773425 110919370 111013667 +PA134978644 6473 HGNC:10853 ENSG00000185960 SHOX homeobox SHOX pseudoautosomal homeobox-containing osteogenic gene, short stature homeobox GCFX, PHOG, SHOX1, SHOXY, SS Yes No Comparative Toxicogenomics Database:6473, Ensembl:ENSG00000185960, GeneCard:SHOX, HGNC:HGNC:10853, ModBase:O15266, NCBI Gene:6473, OMIM:127300, OMIM:249700, OMIM:300582, OMIM:312865, OMIM:400020, OMIM:604271, RefSeq DNA:NG_009385, RefSeq DNA:NT_167193, RefSeq DNA:NT_167201, RefSeq Protein:NP_000442, RefSeq Protein:NP_006874, RefSeq RNA:NM_000451, RefSeq RNA:NM_006883, UniProtKB:O15266 No chrX 585079 620146 624344 659411 +PA35756 6474 HGNC:10854 ENSG00000168779 SHOX homeobox 2 SHOX2 SHOX homologous gene on chromosome 3, short stature homeobox 2 OG12, OG12X, SHOT Yes No Ensembl:ENSG00000168779, GenAtlas:SHOX2, GeneCard:SHOX2, HGNC:HGNC:10854, HumanCyc Gene:HS09821, ModBase:O60902, NCBI Gene:6474, OMIM:602504, RefSeq DNA:NT_005612, RefSeq Protein:NP_001157150, RefSeq Protein:NP_003021, RefSeq Protein:NP_006875, RefSeq RNA:NM_001163678, RefSeq RNA:NM_003030, RefSeq RNA:NM_006884, UCSC Genome Browser:NM_003030, UniProtKB:O60902 No chr3 157813800 157823952 158096011 158106212 +PA162403312 23729 HGNC:1492 ENSG00000197417 sedoheptulokinase SHPK CARKL, SHK Yes No Ensembl:ENSG00000197417, GeneCard:SHPK, HGNC:HGNC:1492, ModBase:Q9UHJ6, NCBI Gene:23729, OMIM:605060, RefSeq DNA:NT_010718, RefSeq Protein:NP_037408, RefSeq RNA:NM_013276, UniProtKB:Q9UHJ6 No chr17 3511556 3539616 3608262 3636322 +PA134880315 257218 HGNC:19336 ENSG00000146414 SNF2 histone linker PHD RING helicase SHPRH SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase FLJ90837, KIAA2023, bA545I5.2 Yes No Comparative Toxicogenomics Database:257218, Ensembl:ENSG00000146414, GeneCard:SHPRH, HGNC:HGNC:19336, ModBase:Q8NBR7, NCBI Gene:257218, OMIM:608048, RefSeq DNA:NT_025741, RefSeq Protein:NP_001036148, RefSeq Protein:NP_775105, RefSeq RNA:NM_001042683, RefSeq RNA:NM_173082, UniProtKB:B3KX98, UniProtKB:Q149N8 No chr6 146205943 146285421 145857838 145964436 +PA142670921 55164 HGNC:25543 ENSG00000144736 SHQ1, H/ACA ribonucleoprotein assembly factor SHQ1 FLJ10539, Shq1p Yes No Ensembl:ENSG00000144736, GeneCard:SHQ1, HGNC:HGNC:25543, HumanCyc Gene:HS14046, ModBase:Q6PI26, NCBI Gene:55164, RefSeq DNA:NT_022459, RefSeq Protein:NP_060600, RefSeq RNA:NM_018130, UniProtKB:Q6PI26 No chr3 72798426 72897631 72725703 72848475 +PA147357345 134549 HGNC:24084 ENSG00000164403 shroom family member 1 SHROOM1 Apical protein 2, Protein Shroom1 APXL2, KIAA1960 Yes No Comparative Toxicogenomics Database:134549, Ensembl:ENSG00000164403, GeneCard:SHROOM1, HGNC:HGNC:24084, NCBI Gene:134549, OMIM:611179, RefSeq DNA:NT_034772, RefSeq Protein:NP_001166171, RefSeq Protein:NP_597713, RefSeq RNA:NM_001172700, RefSeq RNA:NM_133456, UniProtKB:Q2M3G4 No chr5 132157833 132166655 132822141 132831626 +PA24916 357 HGNC:630 ENSG00000146950 shroom family member 2 SHROOM2 Protein Shroom2 APXL Yes No Comparative Toxicogenomics Database:357, Ensembl:ENSG00000146950, GenAtlas:APXL, GeneCard:SHROOM2, HGNC:HGNC:630, HumanCyc Gene:HS07382, ModBase:Q13796, NCBI Gene:357, OMIM:300103, RefSeq DNA:NG_012493, RefSeq DNA:NT_167197, RefSeq Protein:NP_001640, RefSeq RNA:NM_001649, UCSC Genome Browser:NM_001649, UniProtKB:Q13796 No chrX 9754496 9917585 9786406 9949443 +PA24917 10031 HGNC:631 ENSG00000226863 shroom family member 2 pseudogene 1 SHROOM2P1 Yes No Ensembl:ENSG00000226863, GenAtlas:APXLP, GeneCard:SHROOM2P1, HGNC:HGNC:631, NCBI Gene:10031, RefSeq DNA:NG_002803, RefSeq DNA:NT_011875 No chrY 14652993 14655155 12541058 12543220 +PA147357295 57619 HGNC:30422 ENSG00000138771 shroom family member 3 SHROOM3 APXL3, KIAA1481, SHRM, ShrmL Yes No Comparative Toxicogenomics Database:57619, Ensembl:ENSG00000138771, GeneCard:SHROOM3, HGNC:HGNC:30422, HumanCyc Gene:HS06555, ModBase:Q8TF72, NCBI Gene:57619, OMIM:604570, RefSeq DNA:NT_016354, RefSeq Protein:NP_065910, RefSeq RNA:NM_020859, RefSeq RNA:XR_109824, UniProtKB:B3KY47, UniProtKB:Q8TF72 No chr4 77356253 77704406 76435100 76783253 +PA147357321 57477 HGNC:29215 ENSG00000158352 shroom family member 4 SHROOM4 Protein Shroom4, Second homolog of apical protein KIAA1202, SHAP, Shrm4 Yes No Comparative Toxicogenomics Database:57477, Ensembl:ENSG00000158352, GeneCard:SHROOM4, HGNC:HGNC:29215, NCBI Gene:57477, OMIM:300434, OMIM:300579, RefSeq DNA:NG_011882, RefSeq DNA:NT_011638, RefSeq Protein:NP_065768, RefSeq RNA:NM_020717, RefSeq RNA:NR_027121, UniProtKB:Q9ULL8 No chrX 50334642 50557044 50575534 50814167 +PA134973737 57698 HGNC:29319 ENSG00000187164 shootin 1 SHTN1 KIAA1598, shootin-1, shootin1 Yes No Ensembl:ENSG00000187164, GeneCard:KIAA1598, HGNC:HGNC:29319, HumanCyc Gene:HS13717, NCBI Gene:57698, OMIM:611171, RefSeq DNA:NT_030059, RefSeq Protein:NP_001120683, RefSeq Protein:NP_060800, RefSeq RNA:NM_001127211, RefSeq RNA:NM_018330, UniProtKB:A0MZ66 No chr10 118642888 118886097 116883377 117126586 +PA35758 6476 HGNC:10856 ENSG00000090402 sucrase-isomaltase SI """Alpha-methylglucosidase"", ""Oligo-1,6-glucosidase"", ""Oligosaccharide alpha-1,6-glucosidase"", ""alpha-glucosidase"", ""sucrase-isomaltase (alpha-glucosidase)""" Yes No Comparative Toxicogenomics Database:6476, Ensembl:ENSG00000090402, GenAtlas:SI, GeneCard:SI, HGNC:HGNC:10856, HumanCyc Gene:HS01688, ModBase:P14410, NCBI Gene:6476, OMIM:222900, OMIM:609845, RefSeq DNA:NG_017043, RefSeq DNA:NT_005612, RefSeq Protein:NP_001032, RefSeq RNA:NM_001041, UCSC Genome Browser:NM_001041, UniProtKB:P14410 No chr3 164696686 164796283 164978898 165078495 +PA142670922 54414 HGNC:18187 ENSG00000110013 sialic acid acetylesterase SIAE sialic acid-specific acetylesterase II CSE-C, LSE, MGC87009, YSG2 Yes No Comparative Toxicogenomics Database:54414, Ensembl:ENSG00000110013, GeneCard:SIAE, HGNC:HGNC:18187, HumanCyc Gene:HS12707, ModBase:Q9HAT2, NCBI Gene:54414, OMIM:610079, RefSeq DNA:NT_033899, RefSeq Protein:NP_001186851, RefSeq Protein:NP_733746, RefSeq RNA:NM_001199922, RefSeq RNA:NM_170601, UniProtKB:Q9HAT2 No chr11 124505685 124546199 124635789 124676303 +PA35759 6477 HGNC:10857 ENSG00000196470 siah E3 ubiquitin protein ligase 1 SIAH1 hSIAH1 Yes No Ensembl:ENSG00000196470, GenAtlas:SIAH1, GeneCard:SIAH1, HGNC:HGNC:10857, ModBase:Q8IUQ4, NCBI Gene:6477, OMIM:602212, RefSeq DNA:NT_010498, RefSeq Protein:NP_001006611, RefSeq Protein:NP_003022, RefSeq RNA:NM_001006610, RefSeq RNA:NM_003031, UCSC Genome Browser:NM_003031, UniProtKB:Q8IUQ4 No chr16 48394442 48419229 48360531 48448440 +PA35760 6478 HGNC:10858 ENSG00000181788 siah E3 ubiquitin protein ligase 2 SIAH2 Yes No Comparative Toxicogenomics Database:6478, Ensembl:ENSG00000181788, GenAtlas:SIAH2, GeneCard:SIAH2, HGNC:HGNC:10858, HumanCyc Gene:HS11662, ModBase:O43255, NCBI Gene:6478, OMIM:602213, RefSeq DNA:NT_005612, RefSeq Protein:NP_005058, RefSeq RNA:NM_005067, UCSC Genome Browser:NM_005067, UniProtKB:O43255 No chr3 150458910 150481263 150741123 150763476 +PA164725697 283514 HGNC:30553 ENSG00000215475 siah E3 ubiquitin protein ligase family member 3 SIAH3 FLJ39203 Yes No Ensembl:ENSG00000215475, GeneCard:SIAH3, HGNC:HGNC:30553, NCBI Gene:283514, RefSeq DNA:NT_024524, RefSeq Protein:NP_942146, RefSeq RNA:NM_198849, UniProtKB:Q8IW03 No chr13 46354405 46425846 45780270 45851711 +PA134923837 54847 HGNC:25967 ENSG00000072858 SID1 transmembrane family member 1 SIDT1 SID1 transmembrane family, member 1 FLJ20174, SID-1 Yes No Comparative Toxicogenomics Database:54847, Ensembl:ENSG00000072858, GeneCard:SIDT1, HGNC:HGNC:25967, HumanCyc Gene:HS12219, ModBase:Q9NXL6, NCBI Gene:54847, OMIM:606816, RefSeq DNA:NT_005612, RefSeq Protein:NP_060169, RefSeq RNA:NM_017699, UniProtKB:Q9NXL6 No chr3 113251218 113348422 113531774 113629579 +PA134910333 51092 HGNC:24272 ENSG00000149577 SID1 transmembrane family member 2 SIDT2 SID1 transmembrane family, member 2 CGI-40 Yes No Comparative Toxicogenomics Database:51092, Ensembl:ENSG00000149577, GeneCard:SIDT2, HGNC:HGNC:24272, HumanCyc Gene:HS14293, ModBase:Q8NBJ9, NCBI Gene:51092, RefSeq DNA:NT_033899, RefSeq Protein:NP_001035545, RefSeq RNA:NM_001040455, UniProtKB:Q8NBJ9 No chr11 117049626 117068161 117179223 117197445 +PA142670915 59307 HGNC:30575 ENSG00000185187 single Ig and TIR domain containing SIGIRR Toll/interleukin-1 receptor 8, single immunoglobulin and toll-interleukin 1 receptor (TIR) domain, single immunoglobulin domain IL1R1 related IL-1R8, TIR8 Yes No Comparative Toxicogenomics Database:59307, Ensembl:ENSG00000185187, GeneCard:SIGIRR, HGNC:HGNC:30575, ModBase:Q6IA17, NCBI Gene:59307, OMIM:605478, RefSeq DNA:NT_009237, RefSeq Protein:NP_001128525, RefSeq Protein:NP_001128526, RefSeq Protein:NP_068577, RefSeq RNA:NM_001135053, RefSeq RNA:NM_001135054, RefSeq RNA:NM_021805, UniProtKB:Q6IA17 No chr11 405716 417454 405716 417454 +PA35976 6614 HGNC:11127 ENSG00000088827 sialic acid binding Ig like lectin 1 SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, SIGLEC-1, SN, dJ1009E24.1, sialoadhesin Yes No Ensembl:ENSG00000088827, GenAtlas:SIGLEC1, GeneCard:SIGLEC1, HGNC:HGNC:11127, HumanCyc Gene:HS01610, ModBase:Q9BZZ2, NCBI Gene:6614, OMIM:600751, RefSeq DNA:NT_011387, RefSeq Protein:NP_075556, RefSeq RNA:NM_023068, UCSC Genome Browser:NM_023068, UniProtKB:Q9BZZ2 No chr20 3667617 3693213 3686970 3712558 +PA38004 89790 HGNC:15620 ENSG00000142512 sialic acid binding Ig like lectin 10 SIGLEC10 sialic acid binding Ig-like lectin 10, sialic acid binding Ig-like lectin 10 Ig-like lectin 7, siglec-like gene 2 MGC126774, PRO940, SIGLEC-10, SLG2 Yes No Ensembl:ENSG00000142512, GenAtlas:SIGLEC10, GeneCard:SIGLEC10, HGNC:HGNC:15620, HumanCyc Gene:HS06929, ModBase:Q96LC7, NCBI Gene:89790, OMIM:606091, RefSeq DNA:NT_011109, RefSeq Protein:NP_001164627, RefSeq Protein:NP_001164628, RefSeq Protein:NP_001164629, RefSeq Protein:NP_001164630, RefSeq Protein:NP_001164631, RefSeq Protein:NP_001164632, RefSeq Protein:NP_149121, RefSeq RNA:NM_001171156, RefSeq RNA:NM_001171157, RefSeq RNA:NM_001171158, RefSeq RNA:NM_001171159, RefSeq RNA:NM_001171160, RefSeq RNA:NM_001171161, RefSeq RNA:NM_033130, UCSC Genome Browser:NM_033130, UniProtKB:B7ZL06, UniProtKB:C9JM10, UniProtKB:Q96LC7 No chr19 51913275 51921057 51410021 51417803 +PA38005 114132 HGNC:15622 ENSG00000161640 sialic acid binding Ig like lectin 11 SIGLEC11 sialic acid binding Ig-like lectin 11 Yes No Ensembl:ENSG00000161640, GenAtlas:SIGLEC11, GeneCard:SIGLEC11, HGNC:HGNC:15622, HumanCyc Gene:HS08602, ModBase:Q96RL6, NCBI Gene:114132, OMIM:607157, RefSeq DNA:NT_011109, RefSeq Protein:NP_001128635, RefSeq Protein:NP_443116, RefSeq RNA:NM_001135163, RefSeq RNA:NM_052884, UCSC Genome Browser:NM_052884, UniProtKB:Q96RL6 No chr19 50452250 50464439 49948993 49961172 +PA37966 89858 HGNC:15482 ENSG00000254521 sialic acid binding Ig like lectin 12 SIGLEC12 sialic acid binding Ig like lectin 12 (gene/pseudogene), sialic acid binding Ig-like lectin 12 (gene/pseudogene) S2V, SIGLECL1, SLG, Siglec-12, Siglec-L1, Siglec-XII Yes No Ensembl:ENSG00000254521, GenAtlas:SIGLEC12, GeneCard:SIGLEC12, HGNC:HGNC:15482, ModBase:Q96PQ1, NCBI Gene:89858, OMIM:606094, RefSeq DNA:NT_011109, RefSeq Protein:NP_201586, RefSeq Protein:NP_443729, RefSeq RNA:NM_033329, RefSeq RNA:NM_053003, UCSC Genome Browser:NM_033329, UniProtKB:Q96PQ1 No chr19 51994613 52005043 51491227 51501789 +PA162403331 100049587 HGNC:32926 ENSG00000254415 sialic acid binding Ig like lectin 14 SIGLEC14 sialic acid binding Ig-like lectin 14 Yes No Ensembl:ENSG00000254415, GeneCard:SIGLEC14, HGNC:HGNC:32926, ModBase:Q08ET2, NCBI Gene:100049587, RefSeq DNA:NT_011109, RefSeq Protein:NP_001092082, RefSeq RNA:NM_001098612, UniProtKB:Q08ET2 No chr19 52145806 52150132 51639478 51646879 +PA162403350 284266 HGNC:27596 ENSG00000197046 sialic acid binding Ig like lectin 15 SIGLEC15 sialic acid binding Ig-like lectin 15 CD33L3, HsT1361 Yes No Ensembl:ENSG00000197046, GeneCard:SIGLEC15, HGNC:HGNC:27596, ModBase:Q6ZMC9, NCBI Gene:284266, RefSeq DNA:NT_010966, RefSeq Protein:NP_998767, RefSeq RNA:NM_213602, UniProtKB:Q6ZMC9 No chr18 43405545 43422521 45825580 45842556 +PA134972004 400709 HGNC:24851 ENSG00000161643 sialic acid binding Ig like lectin 16 SIGLEC16 sialic acid binding Ig like lectin 16 (gene/pseudogene), sialic acid binding Ig-like lectin 16 (gene/pseudogene) SIGLECP16, Siglec-P16 Yes No Ensembl:ENSG00000161643, HGNC:HGNC:24851, NCBI Gene:400709, RefSeq RNA:NR_002825 No chr19 50472912 50479076 49969600 49973531 +PA37993 284367 HGNC:15604 ENSG00000171101 sialic acid binding Ig-like lectin 17, pseudogene SIGLEC17P Yes No Comparative Toxicogenomics Database:284367, Ensembl:ENSG00000171101, GenAtlas:SIGLECP3, GeneCard:SIGLEC17P, HGNC:HGNC:15604, NCBI Gene:284367, RefSeq DNA:NT_011109, RefSeq RNA:NR_002804 No chr19 51670585 51676780 51167328 51173524 +PA37969 114184 HGNC:15491 ENSG00000268581 sialic acid binding Ig-like lectin 18, pseudogene SIGLEC18P Yes No Ensembl:ENSG00000268581, GenAtlas:SIGLECP1, GeneCard:SIGLEC18P, HGNC:HGNC:15491, NCBI Gene:114184, RefSeq DNA:NG_004728, RefSeq DNA:NT_011109 No chr19 51623087 51623593 51119830 51120336 +PA37994 114192 HGNC:15609 ENSG00000268336 sialic acid binding Ig-like lectin 20, pseudogene SIGLEC20P Yes No Ensembl:ENSG00000268336, GenAtlas:SIGLECP4, GeneCard:SIGLEC20P, HGNC:HGNC:15609, NCBI Gene:114192, RefSeq DNA:NG_004735, RefSeq DNA:NT_011109 No chr19 51688070 51688495 51184746 51185207 +PA37995 114194 HGNC:15610 ENSG00000269253 sialic acid binding Ig-like lectin 21, pseudogene SIGLEC21P Yes No Ensembl:ENSG00000269253, GenAtlas:SIGLECP5, GeneCard:SIGLEC21P, HGNC:HGNC:15610, NCBI Gene:114194, RefSeq DNA:NG_004736, RefSeq DNA:NT_011109 No chr19 51702112 51702577 51198856 51199321 +PA37996 114195 HGNC:15611 ENSG00000268849 sialic acid binding Ig-like lectin 22, pseudogene SIGLEC22P Yes No Ensembl:ENSG00000268849, GenAtlas:SIGLECP6, GeneCard:SIGLEC22P, HGNC:HGNC:15611, NCBI Gene:114195, RefSeq DNA:NG_004737, RefSeq DNA:NT_011109 No chr19 51714366 51714845 51211069 51211601 +PA37998 114196 HGNC:15613 ENSG00000269021 sialic acid binding Ig-like lectin 24, pseudogene SIGLEC24P Yes No Ensembl:ENSG00000269021, GenAtlas:SIGLECP8, GeneCard:SIGLEC24P, HGNC:HGNC:15613, NCBI Gene:114196, RefSeq DNA:NG_004738, RefSeq DNA:NT_011109 No chr19 51784089 51784442 51280835 51281188 +PA37999 114198 HGNC:15614 sialic acid binding Ig-like lectin 25, pseudogene SIGLEC25P Yes No GenAtlas:SIGLECP9, GeneCard:SIGLEC25P, HGNC:HGNC:15614, NCBI Gene:114198, RefSeq DNA:NG_004740, RefSeq DNA:NT_011109 No chr19 51964583 51965057 51461329 51461803 +PA38000 114185 HGNC:15615 sialic acid binding Ig-like lectin 26, pseudogene SIGLEC26P Yes No GenAtlas:SIGLECP10, GeneCard:SIGLEC26P, HGNC:HGNC:15615, NCBI Gene:114185, RefSeq DNA:NG_004729, RefSeq DNA:NT_011109 No chr19 51971903 51972784 51468649 51469530 +PA38001 114186 HGNC:15617 ENSG00000269580 sialic acid binding Ig-like lectin 27, pseudogene SIGLEC27P Yes No Ensembl:ENSG00000269580, GenAtlas:SIGLECP11, GeneCard:SIGLEC27P, HGNC:HGNC:15617, NCBI Gene:114186, RefSeq DNA:NG_004730, RefSeq DNA:NT_011109 No chr19 52011657 52012082 51508403 51508828 +PA38002 114187 HGNC:15618 sialic acid binding Ig-like lectin 28, pseudogene SIGLEC28P Yes No GenAtlas:SIGLECP12, GeneCard:SIGLEC28P, HGNC:HGNC:15618, NCBI Gene:114187, RefSeq DNA:NG_004731, RefSeq DNA:NT_011109 No chr19 52048579 52049340 51545326 51546087 +PA38003 114188 HGNC:15619 ENSG00000268267 sialic acid binding Ig-like lectin 29, pseudogene SIGLEC29P Yes No Ensembl:ENSG00000268267, GenAtlas:SIGLECP13, GeneCard:SIGLEC29P, HGNC:HGNC:15619, NCBI Gene:114188, RefSeq DNA:NG_004732, RefSeq DNA:NT_011109 No chr19 52067691 52068169 51564438 51564916 +PA38006 114190 HGNC:15623 ENSG00000224896 sialic acid binding Ig-like lectin 30, pseudogene SIGLEC30P Yes No Ensembl:ENSG00000224896, GenAtlas:SIGLECP14, GeneCard:SIGLEC30P, HGNC:HGNC:15623, NCBI Gene:114190, RefSeq DNA:NG_004734, RefSeq DNA:NT_004487 No chr1 170084664 170085538 170115494 170116393 +PA38087 114189 HGNC:16072 ENSG00000268847 sialic acid binding Ig-like lectin 31, pseudogene SIGLEC31P Yes No Ensembl:ENSG00000268847, GenAtlas:SIGLECP15, GeneCard:SIGLEC31P, HGNC:HGNC:16072, NCBI Gene:114189, RefSeq DNA:NG_004733, RefSeq DNA:NT_011109 No chr19 57101322 57101859 56589954 56590491 +PA35775 8778 HGNC:10874 ENSG00000105501 sialic acid binding Ig like lectin 5 SIGLEC5 sialic acid binding Ig-like lectin 5 CD170, CD33L2, OB-BP2, SIGLEC-5 Yes No Ensembl:ENSG00000105501, GenAtlas:SIGLEC5, GeneCard:SIGLEC5, HGNC:HGNC:10874, HumanCyc Gene:HS02751, ModBase:O15389, NCBI Gene:8778, OMIM:604200, RefSeq DNA:NT_011109, RefSeq Protein:NP_003821, RefSeq RNA:NM_003830, UCSC Genome Browser:NM_003830, UniProtKB:O15389 No chr19 52114756 52133727 51610967 51630474 +PA35776 946 HGNC:10875 ENSG00000105492 sialic acid binding Ig like lectin 6 SIGLEC6 sialic acid binding Ig-like lectin 6 CD327, CD33L, CD33L1, OB-BP1, SIGLEC-6 Yes No Comparative Toxicogenomics Database:946, Ensembl:ENSG00000105492, GenAtlas:SIGLEC6, GeneCard:SIGLEC6, HGNC:HGNC:10875, HumanCyc Gene:HS02748, ModBase:O43699, NCBI Gene:946, OMIM:604405, RefSeq DNA:NT_011109, RefSeq Protein:NP_001171018, RefSeq Protein:NP_001171019, RefSeq Protein:NP_001171020, RefSeq Protein:NP_001236, RefSeq Protein:NP_942142, RefSeq Protein:NP_942143, RefSeq RNA:NM_001177547, RefSeq RNA:NM_001177548, RefSeq RNA:NM_001177549, RefSeq RNA:NM_001245, RefSeq RNA:NM_198845, RefSeq RNA:NM_198846, UCSC Genome Browser:NM_001245, UniProtKB:C9J1N2, UniProtKB:C9JBE5, UniProtKB:O43699 No chr19 52020951 52035110 51517725 51531859 +PA35777 27036 HGNC:10876 ENSG00000168995 sialic acid binding Ig like lectin 7 SIGLEC7 sialic acid binding Ig-like lectin 7 CD328, QA79, SIGLEC-7, SIGLEC19P, SIGLECP2, p75/AIRM1 Yes No Ensembl:ENSG00000168995, GenAtlas:SIGLEC7, GeneCard:SIGLEC7, HGNC:HGNC:10876, HumanCyc Gene:HS09862, ModBase:Q9Y286, NCBI Gene:27036, OMIM:604410, RefSeq DNA:NT_011109, RefSeq Protein:NP_055200, RefSeq Protein:NP_057627, RefSeq RNA:NM_014385, RefSeq RNA:NM_016543, UCSC Genome Browser:NM_014385, UniProtKB:Q9Y286 No chr19 51645558 51656783 51142261 51153526 +PA35778 27181 HGNC:10877 ENSG00000105366 sialic acid binding Ig like lectin 8 SIGLEC8 sialic acid binding Ig-like lectin 8 MGC59785, SAF2, SIGLEC-8, SIGLEC8L Yes No Ensembl:ENSG00000105366, GenAtlas:SIGLEC8, GeneCard:SIGLEC8, HGNC:HGNC:10877, HumanCyc Gene:HS02719, ModBase:Q9NYZ4, NCBI Gene:27181, OMIM:605639, RefSeq DNA:NT_011109, RefSeq Protein:NP_055257, RefSeq RNA:NM_014442, UCSC Genome Browser:NM_014442, UniProtKB:Q9NYZ4 No chr19 51954251 51961708 51450997 51458454 +PA35779 27180 HGNC:10878 ENSG00000129450 sialic acid binding Ig like lectin 9 SIGLEC9 sialic acid binding Ig-like lectin 9 CD329 Yes No Ensembl:ENSG00000129450, GenAtlas:SIGLEC9, GeneCard:SIGLEC9, HGNC:HGNC:10878, HumanCyc Gene:HS05277, ModBase:Q9Y336, NCBI Gene:27180, OMIM:605640, RefSeq DNA:NT_011109, RefSeq Protein:NP_001185487, RefSeq Protein:NP_055256, RefSeq RNA:NM_001198558, RefSeq RNA:NM_014441, UCSC Genome Browser:NM_014441, UniProtKB:Q9Y336 No chr19 51628137 51639520 51124880 51140480 +PA165393060 284369 HGNC:26856 ENSG00000179213 SIGLEC family like 1 SIGLECL1 C19orf75, FLJ40235, SIGLEC23P, SIGLECP7 Yes No Ensembl:ENSG00000179213, GeneCard:C19orf75, HGNC:HGNC:26856, HumanCyc Gene:HS17230, NCBI Gene:284369, RefSeq DNA:NT_011109, RefSeq Protein:NP_775906, RefSeq RNA:NM_173635, UniProtKB:Q8N7X8 No chr19 51754332 51772582 51251064 51269330 +PA164725706 10280 HGNC:8157 ENSG00000147955 sigma non-opioid intracellular receptor 1 SIGMAR1 OPRS1, SR-BP1 Yes No Ensembl:ENSG00000147955, GeneCard:SIGMAR1, HGNC:HGNC:8157, HumanCyc Gene:HS07485, NCBI Gene:10280, OMIM:601978, RefSeq DNA:NT_008413, RefSeq Protein:NP_005857, RefSeq Protein:NP_671513, RefSeq RNA:NM_005866, RefSeq RNA:NM_147157, UniProtKB:A2A3U5, UniProtKB:Q99720 No chr9 34634719 34637805 34634722 34637826 +PA164725717 150094 HGNC:11142 ENSG00000142178 salt inducible kinase 1 SIK1 myocardial SNF1-like kinase, salt-inducible kinase 1 SNF1LK, msk Yes No Ensembl:ENSG00000142178, GeneCard:SIK1, HGNC:HGNC:11142, HumanCyc Gene:HS06901, NCBI Gene:150094, OMIM:605705, RefSeq DNA:NT_011515, RefSeq Protein:NP_775490, RefSeq RNA:NM_173354, UniProtKB:P57059 No chr21 44834395 44847002 43414490 43427126 +PA166352122 HGNC:52389 salt inducible kinase 1B (putative) SIK1B Yes No HGNC:HGNC:52389 No 0 0 0 0 +PA164725750 23235 HGNC:21680 ENSG00000170145 salt inducible kinase 2 SIK2 Qin-induced kinase, salt-inducible kinase 2 DKFZp434K1115, KIAA0781, LOH11CR1I, QIK, SNF1LK2 Yes No Ensembl:ENSG00000170145, GeneCard:SIK2, HGNC:HGNC:21680, NCBI Gene:23235, OMIM:608973, RefSeq DNA:NT_033899, RefSeq Protein:NP_056006, RefSeq RNA:NM_015191, UniProtKB:Q9H0K1 No chr11 111473170 111597635 111602391 111726917 +PA165543631 23387 HGNC:29165 ENSG00000160584 SIK family kinase 3 SIK3 salt-inducible kinase 3 FLJ12240, KIAA0999, L19, QSK Yes Yes Ensembl:ENSG00000160584, GeneCard:SIK3, HGNC:HGNC:29165, NCBI Gene:23387, RefSeq DNA:NT_033899, RefSeq Protein:NP_079440, RefSeq RNA:NM_025164, UniProtKB:Q9Y2K2 No chr11 116714118 116969131 116843402 117098453 +PA165752371 80143 HGNC:26119 ENSG00000052723 suppressor of IKBKE 1 SIKE1 suppressor of IKK epsilon FLJ21168, SIKE Yes No Ensembl:ENSG00000052723, GeneCard:SIKE1, HGNC:HGNC:26119, HumanCyc Gene:HS12127, NCBI Gene:80143, OMIM:611656, RefSeq DNA:NT_032977, RefSeq Protein:NP_001095866, RefSeq Protein:NP_079349, RefSeq RNA:NM_001102396, RefSeq RNA:NM_025073, UniProtKB:Q9BRV8 No chr1 115312100 115323308 114769479 114780687 +PA142670916 64374 HGNC:24624 ENSG00000120725 SIL1 nucleotide exchange factor SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) BAP, MSS, ULG5 Yes No Comparative Toxicogenomics Database:64374, Ensembl:ENSG00000120725, GeneCard:SIL1, HGNC:HGNC:24624, HumanCyc Gene:HS04429, ModBase:Q9H173, NCBI Gene:64374, OMIM:248800, OMIM:608005, RefSeq DNA:NG_008112, RefSeq DNA:NT_034772, RefSeq Protein:NP_001032722, RefSeq Protein:NP_071909, RefSeq RNA:NM_001037633, RefSeq RNA:NM_022464, UniProtKB:Q9H173 No chr5 138282409 138534065 138946720 139198376 +PA35782 6492 HGNC:10882 ENSG00000112246 SIM bHLH transcription factor 1 SIM1 single-minded family bHLH transcription factor 1, single-minded homolog 1 (Drosophila) bHLHe14 Yes No Comparative Toxicogenomics Database:6492, Ensembl:ENSG00000112246, GenAtlas:SIM1, GeneCard:SIM1, HGNC:HGNC:10882, HumanCyc Gene:HS03542, ModBase:P81133, NCBI Gene:6492, OMIM:601665, OMIM:603128, RefSeq DNA:NG_008230, RefSeq DNA:NT_025741, RefSeq Protein:NP_005059, RefSeq RNA:NM_005068, UCSC Genome Browser:NM_005068, UniProtKB:P81133 No chr6 100832891 100912805 100385009 100464929 +PA35783 6493 HGNC:10883 ENSG00000159263 SIM bHLH transcription factor 2 SIM2 single-minded family bHLH transcription factor 2, single-minded homolog 2 (Drosophila), transcription factor SIM2 MGC119447, SIM, bHLHe15 Yes No Ensembl:ENSG00000159263, GenAtlas:SIM2, GeneCard:SIM2, HGNC:HGNC:10883, HumanCyc Gene:HS08385, ModBase:Q14190, NCBI Gene:6493, OMIM:600892, RefSeq DNA:NT_011512, RefSeq Protein:NP_005060, RefSeq Protein:NP_033664, RefSeq RNA:NM_005069, RefSeq RNA:NM_009586, UCSC Genome Browser:NM_005069, UniProtKB:Q14190 No chr21 38071991 38122510 36699117 36750219 +PA144596506 375484 HGNC:24779 ENSG00000170085 SUMO interacting motifs containing 1 SIMC1 SUMO-interacting motifs containing 1, oocyte maturation associated 1, platform element for inhibition of autolytic degradation C5orf25, FLJ44216, OOMA1, PLEIAD Yes No Ensembl:ENSG00000170085, GeneCard:C5orf25, HGNC:HGNC:24779, ModBase:Q8NDZ2, NCBI Gene:375484, RefSeq DNA:NT_023133, RefSeq Protein:NP_940969, RefSeq RNA:NM_198567, UniProtKB:Q8NDZ2 No chr5 175665370 175772992 176238359 176345991 +PA134993567 25942 HGNC:19353 ENSG00000169375 SIN3 transcription regulator family member A SIN3A SIN3 transcription regulator homolog A (yeast) DKFZP434K2235, KIAA0700 Yes Yes Comparative Toxicogenomics Database:25942, Ensembl:ENSG00000169375, GeneCard:SIN3A, HGNC:HGNC:19353, HumanCyc Gene:HS09936, ModBase:Q96ST3, NCBI Gene:25942, OMIM:607776, RefSeq DNA:NT_010194, RefSeq Protein:NP_001138829, RefSeq Protein:NP_001138830, RefSeq Protein:NP_056292, RefSeq RNA:NM_001145357, RefSeq RNA:NM_001145358, RefSeq RNA:NM_015477, UniProtKB:Q96ST3 No chr15 75661720 75748181 75369379 75455819 +PA134909030 23309 HGNC:19354 ENSG00000127511 SIN3 transcription regulator family member B SIN3B Paired amphipathic helix protein Sin3b, SIN3 transcription regulator homolog B (yeast) KIAA0700 Yes No Comparative Toxicogenomics Database:23309, Ensembl:ENSG00000127511, GeneCard:SIN3B, HGNC:HGNC:19354, HumanCyc Gene:HS05104, ModBase:O75182, NCBI Gene:23309, OMIM:607777, RefSeq DNA:NT_011295, RefSeq Protein:NP_056075, RefSeq RNA:NM_015260, UniProtKB:O75182 No chr19 16940209 16991166 16829387 16880355 +PA134921007 58516 HGNC:30702 ENSG00000139146 SIN3-HDAC complex associated factor SINHCAF family with sequence similarity 60, member A C12orf14, FAM60A, TERA Yes No Ensembl:ENSG00000139146, GeneCard:FAM60A, HGNC:HGNC:30702, HumanCyc Gene:HS13758, ModBase:Q9NP50, NCBI Gene:58516, RefSeq DNA:NT_009714, RefSeq Protein:NP_001129283, RefSeq Protein:NP_001129284, RefSeq Protein:NP_067061, RefSeq RNA:NM_001135811, RefSeq RNA:NM_001135812, RefSeq RNA:NM_021238, UniProtKB:Q9NP50 No chr12 31433356 31479159 31280584 31326225 +PA35785 6494 HGNC:10885 ENSG00000213445 signal-induced proliferation-associated 1 SIPA1 SPA1 Yes No Comparative Toxicogenomics Database:6494, Ensembl:ENSG00000213445, GenAtlas:SIPA1, GeneCard:SIPA1, HGNC:HGNC:10885, ModBase:Q96FS4, NCBI Gene:6494, OMIM:602180, RefSeq DNA:NT_167190, RefSeq Protein:NP_006738, RefSeq Protein:NP_694985, RefSeq RNA:NM_006747, RefSeq RNA:NM_153253, UCSC Genome Browser:NM_006747, UniProtKB:Q96FS4 No chr11 65405578 65418391 65638107 65650930 +PA134940118 26037 HGNC:20284 ENSG00000197555 signal induced proliferation associated 1 like 1 SIPA1L1 signal-induced proliferation-associated 1 like 1, spine-associated RapGAP 1, spine‐associated RapGAP 1 E6TP1, KIAA0440, SPAR1 Yes No Comparative Toxicogenomics Database:26037, Ensembl:ENSG00000197555, GeneCard:SIPA1L1, HGNC:HGNC:20284, ModBase:O43166, NCBI Gene:26037, RefSeq DNA:NT_026437, RefSeq Protein:NP_056371, RefSeq RNA:NM_015556, UniProtKB:O43166 No chr14 71788108 72207761 71320418 71741229 +PA134933243 57568 HGNC:23800 ENSG00000116991 signal induced proliferation associated 1 like 2 SIPA1L2 signal-induced proliferation-associated 1 like 2, spine-associated RapGAP 2, spine‐associated RapGAP 2 KIAA1389, SPAR2 Yes No Ensembl:ENSG00000116991, GeneCard:SIPA1L2, HGNC:HGNC:23800, ModBase:Q9P2F8, NCBI Gene:57568, OMIM:611609, RefSeq DNA:NT_167186, RefSeq Protein:NP_065859, RefSeq RNA:NM_020808, UniProtKB:Q9P2F8 No chr1 232533711 232765907 232397965 232630491 +PA134866783 23094 HGNC:23801 ENSG00000105738 signal induced proliferation associated 1 like 3 SIPA1L3 signal-induced proliferation-associated 1 like 3, spine-associated RapGAP 3, spine‐associated RapGAP 3 KIAA0545, SPAR3 Yes No Ensembl:ENSG00000105738, GeneCard:SIPA1L3, HGNC:HGNC:23801, ModBase:O60292, NCBI Gene:23094, RefSeq DNA:NT_011109, RefSeq Protein:NP_055888, RefSeq RNA:NM_015073, UniProtKB:O60292, UniProtKB:Q8IUV1 No chr19 38397525 38699009 37906823 38208372 +PA34006 140885 HGNC:9662 ENSG00000198053 signal regulatory protein alpha SIRPA signal-regulatory protein alpha BIT, CD172a, MFR, MYD-1, P84, PTPNS1, SHPS-1, SHPS1, SIRP, SIRP-ALPHA-1, SIRPalpha, SIRPalpha2 Yes Yes Comparative Toxicogenomics Database:140885, Ensembl:ENSG00000198053, GenAtlas:SIRPA, GeneCard:SIRPA, HGNC:HGNC:9662, ModBase:Q9UIJ6, NCBI Gene:140885, OMIM:602461, RefSeq DNA:NT_011387, RefSeq Protein:NP_001035111, RefSeq Protein:NP_001035112, RefSeq Protein:NP_542970, RefSeq RNA:NM_001040022, RefSeq RNA:NM_001040023, RefSeq RNA:NM_080792, UCSC Genome Browser:NM_080792, UniProtKB:B2R6C3, UniProtKB:P78324 No chr20 1874763 1920540 1894117 1939895 +PA34007 23755 HGNC:9663 ENSG00000225774 signal-regulatory protein alpha pseudogene 1 SIRPAP1 Yes No Ensembl:ENSG00000225774, GenAtlas:PTPNS1L, GeneCard:SIRPAP1, HGNC:HGNC:9663, NCBI Gene:23755, RefSeq DNA:NG_002457, RefSeq DNA:NT_011520 No chr22 30938242 30940921 30542215 30544935 +PA38051 10326 HGNC:15928 ENSG00000101307 signal regulatory protein beta 1 SIRPB1 signal-regulatory protein beta 1 CD172b, SIRP-BETA-1 Yes No Comparative Toxicogenomics Database:10326, Ensembl:ENSG00000101307, GenAtlas:SIRPB1, GeneCard:SIRPB1, HGNC:HGNC:15928, HumanCyc Gene:HS02237, ModBase:O00241, ModBase:Q5TFQ8, NCBI Gene:10326, OMIM:603889, RefSeq DNA:NT_011387, RefSeq Protein:NP_001077379, RefSeq Protein:NP_001129316, RefSeq Protein:NP_006056, RefSeq RNA:NM_001083910, RefSeq RNA:NM_001135844, RefSeq RNA:NM_006065, UCSC Genome Browser:NM_006065, UniProtKB:O00241, UniProtKB:Q5TFQ8 No chr20 1545029 1600720 1564193 1620457 +PA164742382 284759 HGNC:16247 ENSG00000196209 signal regulatory protein beta 2 SIRPB2 signal-regulatory protein beta 2 PTPN1L, PTPNS1L3, dJ776F14.2 Yes No Ensembl:ENSG00000196209, GeneCard:SIRPB2, HGNC:HGNC:16247, ModBase:Q5JXA9, NCBI Gene:284759, RefSeq DNA:NT_011387, RefSeq Protein:NP_001116434, RefSeq Protein:NP_001128308, RefSeq RNA:NM_001122962, RefSeq RNA:NM_001134836, UniProtKB:B3KTG0, UniProtKB:B4DLM9, UniProtKB:Q5JXA9 No chr20 1455236 1472233 1474591 1491762 +PA34008 128646 HGNC:16248 ENSG00000125900 signal regulatory protein delta SIRPD signal-regulatory protein delta PTPNS1L2, dJ576H24.4 Yes No Ensembl:ENSG00000125900, GenAtlas:SIRPD, GeneCard:SIRPD, HGNC:HGNC:16248, ModBase:Q9H106, NCBI Gene:128646, RefSeq DNA:NT_011387, RefSeq Protein:NP_848555, RefSeq RNA:NM_178460, UCSC Genome Browser:NM_178460, UniProtKB:Q9H106 No chr20 1514897 1539489 1534251 1557697 +PA38034 55423 HGNC:15757 ENSG00000089012 signal regulatory protein gamma SIRPG signal-regulatory protein gamma CD172g, SIRP-B2, SIRPB2, SIRPgamma, bA77C3.1 Yes No Ensembl:ENSG00000089012, GenAtlas:SIRPG, GeneCard:SIRPG, HGNC:HGNC:15757, HumanCyc Gene:HS01624, ModBase:Q9P1W8, NCBI Gene:55423, OMIM:605466, RefSeq DNA:NT_011387, RefSeq Protein:NP_001034597, RefSeq Protein:NP_061026, RefSeq Protein:NP_543006, RefSeq RNA:NM_001039508, RefSeq RNA:NM_018556, RefSeq RNA:NM_080816, UCSC Genome Browser:NM_018556, UniProtKB:Q9P1W8 No chr20 1609522 1638425 1629152 1686516 +PA37935 23411 HGNC:14929 ENSG00000096717 sirtuin 1 SIRT1 SIR2L1 Yes Yes Comparative Toxicogenomics Database:23411, Ensembl:ENSG00000096717, GenAtlas:SIRT1, GeneCard:SIRT1, HGNC:HGNC:14929, HumanCyc Gene:HS01870, ModBase:Q96EB6, NCBI Gene:23411, OMIM:604479, RefSeq DNA:NT_030059, RefSeq Protein:NP_001135970, RefSeq Protein:NP_036370, RefSeq RNA:NM_001142498, RefSeq RNA:NM_012238, UCSC Genome Browser:NM_012238, UniProtKB:A8K128, UniProtKB:Q96EB6 No chr10 69644427 69678147 67884669 67918390 +PA35786 22933 HGNC:10886 ENSG00000068903 sirtuin 2 SIRT2 SIR2L Yes No Comparative Toxicogenomics Database:22933, Ensembl:ENSG00000068903, GenAtlas:SIRT2, GeneCard:SIRT2, HGNC:HGNC:10886, HumanCyc Gene:HS00947, ModBase:Q8IXJ6, NCBI Gene:22933, OMIM:604480, RefSeq DNA:NT_011109, RefSeq Protein:NP_001180215, RefSeq Protein:NP_036369, RefSeq Protein:NP_085096, RefSeq RNA:NM_001193286, RefSeq RNA:NM_012237, RefSeq RNA:NM_030593, RefSeq RNA:NR_034146, UCSC Genome Browser:NM_012237, UniProtKB:Q8IXJ6 No chr19 39369195 39390502 38878555 38899862 +PA37936 23410 HGNC:14931 ENSG00000142082 sirtuin 3 SIRT3 SIR2L3 Yes No Comparative Toxicogenomics Database:23410, Ensembl:ENSG00000142082, GenAtlas:SIRT3, GeneCard:SIRT3, HGNC:HGNC:14931, HumanCyc Gene:HS06893, ModBase:Q9NTG7, NCBI Gene:23410, OMIM:604481, RefSeq DNA:NT_009237, RefSeq Protein:NP_001017524, RefSeq Protein:NP_036371, RefSeq RNA:NM_001017524, RefSeq RNA:NM_012239, UCSC Genome Browser:NM_012239, UniProtKB:B7Z5U6, UniProtKB:Q9NTG7 No chr11 215030 236362 215030 236950 +PA37937 23409 HGNC:14932 ENSG00000089163 sirtuin 4 SIRT4 SIR2L4 Yes No Comparative Toxicogenomics Database:23409, Ensembl:ENSG00000089163, GenAtlas:SIRT4, GeneCard:SIRT4, HGNC:HGNC:14932, HumanCyc Gene:HS01640, ModBase:Q9Y6E7, NCBI Gene:23409, OMIM:604482, RefSeq DNA:NT_009775, RefSeq Protein:NP_036372, RefSeq RNA:NM_012240, UCSC Genome Browser:NM_012240, UniProtKB:Q9Y6E7 No chr12 120730002 120751045 120292199 120313242 +PA37938 23408 HGNC:14933 ENSG00000124523 sirtuin 5 SIRT5 Yes No Comparative Toxicogenomics Database:23408, Ensembl:ENSG00000124523, GenAtlas:SIRT5, GeneCard:SIRT5, HGNC:HGNC:14933, HumanCyc Gene:HS04785, ModBase:Q9NXA8, NCBI Gene:23408, OMIM:604483, RefSeq DNA:NT_007592, RefSeq Protein:NP_001180196, RefSeq Protein:NP_001229756, RefSeq Protein:NP_036373, RefSeq Protein:NP_112534, RefSeq RNA:NM_001193267, RefSeq RNA:NM_001242827, RefSeq RNA:NM_012241, RefSeq RNA:NM_031244, UCSC Genome Browser:NM_012241, UniProtKB:Q9NXA8 No chr6 13574506 13615390 13574222 13615158 +PA37939 51548 HGNC:14934 ENSG00000077463 sirtuin 6 SIRT6 Yes No Ensembl:ENSG00000077463, GenAtlas:SIRT6, GeneCard:SIRT6, HGNC:HGNC:14934, HumanCyc Gene:HS01247, ModBase:Q9UQD1, NCBI Gene:51548, OMIM:606211, RefSeq DNA:NT_011255, RefSeq Protein:NP_001180214, RefSeq Protein:NP_057623, RefSeq RNA:NM_001193285, RefSeq RNA:NM_016539, UCSC Genome Browser:NM_016539, UniProtKB:Q8N6T7 No chr19 4174106 4182596 4174109 4182604 +PA37940 51547 HGNC:14935 ENSG00000187531 sirtuin 7 SIRT7 Yes No Comparative Toxicogenomics Database:51547, Ensembl:ENSG00000187531, GenAtlas:SIRT7, GeneCard:SIRT7, HGNC:HGNC:14935, ModBase:Q9NRC8, NCBI Gene:51547, OMIM:606212, RefSeq DNA:NT_010663, RefSeq Protein:NP_057622, RefSeq RNA:NM_016538, UCSC Genome Browser:NM_016538, UniProtKB:Q9NRC8 No chr17 79869815 79876058 81911939 81918182 +PA142670914 27240 HGNC:17710 ENSG00000137078 signaling threshold regulating transmembrane adaptor 1 SIT1 SHP2 interacting transmembrane adaptor SIT Yes No Ensembl:ENSG00000137078, GeneCard:SIT1, HGNC:HGNC:17710, HumanCyc Gene:HS06266, ModBase:Q9Y3P8, NCBI Gene:27240, OMIM:604964, RefSeq DNA:NT_008413, RefSeq Protein:NP_055265, RefSeq RNA:NM_014450, UniProtKB:Q9Y3P8 No chr9 35649295 35650947 35649298 35650950 +PA162403351 10572 HGNC:17712 ENSG00000184990 SIVA1 apoptosis inducing factor SIVA1 SIVA1, apoptosis-inducing factor CD27BP, SIVA, Siva-1, Siva-2 Yes No Ensembl:ENSG00000184990, GeneCard:SIVA1, HGNC:HGNC:17712, ModBase:O15304, NCBI Gene:10572, OMIM:605567, RefSeq DNA:NT_026437, RefSeq Protein:NP_006418, RefSeq Protein:NP_068355, RefSeq RNA:NM_006427, RefSeq RNA:NM_021709, UniProtKB:O15304 No chr14 105219470 105225996 104752420 104759659 +PA35787 6495 HGNC:10887 ENSG00000126778 SIX homeobox 1 SIX1 DFNA23 Yes No Comparative Toxicogenomics Database:6495, Ensembl:ENSG00000126778, GenAtlas:SIX1, GeneCard:SIX1, HGNC:HGNC:10887, HumanCyc Gene:HS05048, ModBase:Q15475, NCBI Gene:6495, OMIM:601205, OMIM:605192, OMIM:608389, RefSeq DNA:NG_008231, RefSeq DNA:NT_026437, RefSeq Protein:NP_005973, RefSeq RNA:NM_005982, UCSC Genome Browser:NM_005982, UniProtKB:Q15475 No chr14 61111417 61116155 60644698 60649489 +PA35788 10736 HGNC:10888 ENSG00000170577 SIX homeobox 2 SIX2 Yes No Ensembl:ENSG00000170577, GenAtlas:SIX2, GeneCard:SIX2, HGNC:HGNC:10888, HumanCyc Gene:HS10150, ModBase:Q9NPC8, NCBI Gene:10736, OMIM:604994, RefSeq DNA:NG_009360, RefSeq DNA:NT_022184, RefSeq Protein:NP_058628, RefSeq RNA:NM_016932, UCSC Genome Browser:NM_016932, UniProtKB:Q8TBA2, UniProtKB:Q9NPC8 No chr2 45232324 45236580 45005185 45009645 +PA35789 6496 HGNC:10889 ENSG00000138083 SIX homeobox 3 SIX3 HPE2 Yes No Comparative Toxicogenomics Database:6496, Ensembl:ENSG00000138083, GenAtlas:SIX3, GeneCard:SIX3, HGNC:HGNC:10889, HumanCyc Gene:HS06453, ModBase:O95343, NCBI Gene:6496, OMIM:157170, OMIM:603714, RefSeq DNA:NG_016222, RefSeq DNA:NT_022184, RefSeq Protein:NP_005404, RefSeq RNA:NM_005413, UCSC Genome Browser:NM_005413, UniProtKB:O95343 No chr2 45169037 45173216 44941898 44946077 +PA35790 51804 HGNC:10890 ENSG00000100625 SIX homeobox 4 SIX4 Homeobox protein SIX4 AREC3 Yes No Ensembl:ENSG00000100625, GenAtlas:SIX4, GeneCard:SIX4, HGNC:HGNC:10890, HumanCyc Gene:HS02126, ModBase:Q9UIU6, NCBI Gene:51804, OMIM:606342, RefSeq DNA:NG_021182, RefSeq DNA:NT_026437, RefSeq Protein:NP_059116, RefSeq RNA:NM_017420, UCSC Genome Browser:NM_017420, UniProtKB:Q9UIU6 No chr14 61176256 61191039 60709538 60724321 +PA35791 147912 HGNC:10891 ENSG00000177045 SIX homeobox 5 SIX5 DMAHP Yes No Comparative Toxicogenomics Database:147912, Ensembl:ENSG00000177045, GenAtlas:SIX5, GeneCard:SIX5, HGNC:HGNC:10891, ModBase:Q8N196, NCBI Gene:147912, OMIM:600963, OMIM:610896, RefSeq DNA:NG_012745, RefSeq DNA:NT_011109, RefSeq Protein:NP_787071, RefSeq RNA:NM_175875, UniProtKB:Q8N196 No chr19 46268043 46272497 45764785 45769239 +PA35792 4990 HGNC:10892 ENSG00000184302 SIX homeobox 6 SIX6 OPTX2, Six9 Yes No Comparative Toxicogenomics Database:4990, Ensembl:ENSG00000184302, GenAtlas:SIX6, GeneCard:SIX6, HGNC:HGNC:10892, ModBase:O95475, NCBI Gene:4990, OMIM:212550, OMIM:606326, RefSeq DNA:NG_008203, RefSeq DNA:NT_026437, RefSeq Protein:NP_031400, RefSeq RNA:NM_007374, UCSC Genome Browser:NM_007374, UniProtKB:O95475, UniProtKB:Q6P051 No chr14 60975938 60978525 60509220 60511807 +PA165429102 220134 HGNC:28109 ENSG00000154839 spindle and kinetochore associated complex subunit 1 SKA1 C18orf24, MGC10200 Yes No Comparative Toxicogenomics Database:220134, Ensembl:ENSG00000154839, GeneCard:SKA1, HGNC:HGNC:28109, HumanCyc Gene:HS14538, ModBase:Q96BD8, NCBI Gene:220134, RefSeq DNA:NT_010966, RefSeq Protein:NP_001034624, RefSeq Protein:NP_659497, RefSeq RNA:NM_001039535, RefSeq RNA:NM_145060, UniProtKB:Q96BD8 No chr18 47901392 47920538 50375022 50394168 +PA165432792 348235 HGNC:28006 ENSG00000182628 spindle and kinetochore associated complex subunit 2 SKA2 FAM33A, FLJ12758 Yes No Ensembl:ENSG00000182628, GeneCard:SKA2, HGNC:HGNC:28006, NCBI Gene:348235, RefSeq DNA:NG_009298, RefSeq DNA:NT_010783, RefSeq Protein:NP_001094065, RefSeq Protein:NP_872426, RefSeq RNA:NM_001100595, RefSeq RNA:NM_182620, UniProtKB:Q8WVK7 No chr17 57187308 57232800 59109947 59155439 +PA165586302 729012 HGNC:23122 ENSG00000232387 spindle and kinetochore associated complex subunit 2 pseudogene 1 SKA2P1 Em:AC006313.1 Yes No Ensembl:ENSG00000232387, GeneCard:SKA2L, HGNC:HGNC:23122, NCBI Gene:729012 No chr9 125524129 125524935 122761850 122762656 +PA165505498 221150 HGNC:20262 ENSG00000165480 spindle and kinetochore associated complex subunit 3 SKA3 C13orf3, MGC4832, RAMA1 Yes No Ensembl:ENSG00000165480, GeneCard:SKA3, HGNC:HGNC:20262, HumanCyc Gene:HS15329, NCBI Gene:221150, RefSeq DNA:NT_024524, RefSeq Protein:NP_001159489, RefSeq Protein:NP_659498, RefSeq RNA:NM_001166017, RefSeq RNA:NM_145061, UniProtKB:Q8IX90 No chr13 21727734 21750741 21153595 21176602 +PA162403362 8631 HGNC:15605 ENSG00000141293 src kinase associated phosphoprotein 1 SKAP1 SCAP1, SKAP55 Yes No Ensembl:ENSG00000141293, GeneCard:SKAP1, HGNC:HGNC:15605, HumanCyc Gene:HS06811, ModBase:Q86WV1, NCBI Gene:8631, OMIM:604969, RefSeq DNA:NT_010783, RefSeq Protein:NP_001068567, RefSeq Protein:NP_003717, RefSeq RNA:NM_001075099, RefSeq RNA:NM_003726, UniProtKB:Q86WV1 No chr17 46210802 46507596 48133438 48430291 +PA162403393 8935 HGNC:15687 ENSG00000005020 src kinase associated phosphoprotein 2 SKAP2 RA70, SAPS, SCAP2, SKAP-HOM, SKAP55R Yes No Ensembl:ENSG00000005020, GeneCard:SKAP2, HGNC:HGNC:15687, HumanCyc Gene:HS00124, ModBase:O75563, NCBI Gene:8935, OMIM:605215, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_003921, RefSeq RNA:NM_003930, UniProtKB:A4D173, UniProtKB:O75563 No chr7 26697397 27034862 26654772 26864743 +PA35796 6497 HGNC:10896 ENSG00000157933 SKI proto-oncogene SKI Sloan-Kettering Institute proto-oncogene, v-ski sarcoma viral oncogene homolog (avian) Yes No Comparative Toxicogenomics Database:6497, Ensembl:ENSG00000157933, GenAtlas:SKI, GeneCard:SKI, HGNC:HGNC:10896, HumanCyc Gene:HS08255, ModBase:P12755, NCBI Gene:6497, OMIM:164780, RefSeq DNA:NG_013084, RefSeq DNA:NT_004350, RefSeq Protein:NP_003027, RefSeq RNA:NM_003036, UCSC Genome Browser:NM_003036, UniProtKB:P12755 No chr1 2160134 2241652 2228695 2310213 +PA35798 6499 HGNC:10898 ENSG00000204351, ENSG00000225737 SKI2 subunit of superkiller complex SKIC2 Ski2 like RNA helicase, superkiller viralicidic activity 2-like (S. cerevisiae) 170A, DDX13, HLP, SKI2, SKI2W, SKIV2, SKIV2L, SKIV2L1 Yes Yes Comparative Toxicogenomics Database:6499, Ensembl:ENSG00000204351, Ensembl:ENSG00000225737, GenAtlas:SKIV2L, GeneCard:SKIV2L, HGNC:HGNC:10898, ModBase:Q15477, NCBI Gene:6499, OMIM:600478, RefSeq DNA:NG_000013, RefSeq DNA:NG_004658, RefSeq DNA:NG_005163, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_008860, RefSeq RNA:NM_006929, UCSC Genome Browser:NM_006929, UniProtKB:Q15477, UniProtKB:Q5ST66, UniProtKB:Q9NPK3 No chr6 31926581 31937532 31958804 31969852 +PA162407226 9652 HGNC:23639 ENSG00000198677 SKI3 subunit of superkiller complex SKIC3 SKI complex component SKI3 (S. cerevisiae), tetratricopeptide repeat domain 37, thespin KIAA0372, SKI3, THES, TTC37 Yes Yes Ensembl:ENSG00000198677, GeneCard:TTC37, HGNC:HGNC:23639, ModBase:Q6PGP7, NCBI Gene:9652, RefSeq DNA:NG_023414, RefSeq DNA:NT_034772, RefSeq Protein:NP_055454, RefSeq RNA:NM_014639, UniProtKB:Q6PGP7 No chr5 94799599 94890709 95463895 95555005 +PA142670595 80349 HGNC:30300 ENSG00000140395 SKI8 subunit of superkiller complex SKIC8 SKI complex component SKI8 (S. cerevisiae), Ski complex subunit Rec14 (S. pombe), WD repeat domain 61 REC14, SKI8, WDR61 Yes No Comparative Toxicogenomics Database:80349, Ensembl:ENSG00000140395, GeneCard:WDR61, HGNC:HGNC:30300, HumanCyc Gene:HS13829, ModBase:Q9GZS3, NCBI Gene:80349, OMIM:609540, RefSeq DNA:NT_010194, RefSeq Protein:NP_079510, RefSeq RNA:NM_025234, UniProtKB:Q9GZS3 No chr15 78575575 78591977 78283233 78299726 +PA162377645 387640 HGNC:32697 ENSG00000180592 SKI/DACH domain containing 1 SKIDA1 C10orf140, FLJ45187 Yes No Ensembl:ENSG00000180592, GeneCard:C10orf140, HGNC:HGNC:32697, NCBI Gene:387640, RefSeq DNA:NT_008705, RefSeq Protein:NP_997254, RefSeq RNA:NM_207371, UniProtKB:Q1XH10 No chr10 21802407 21814611 21513475 21525682 +PA35797 6498 HGNC:10897 ENSG00000136603 SKI like proto-oncogene SKIL SKI-like oncogene, SKI-like proto-oncogene SNO, SnoA, SnoN Yes No Comparative Toxicogenomics Database:6498, Ensembl:ENSG00000136603, GenAtlas:SKIL, GeneCard:SKIL, HGNC:HGNC:10897, HumanCyc Gene:HS06186, ModBase:P12757, NCBI Gene:6498, OMIM:165340, RefSeq DNA:NT_005612, RefSeq Protein:NP_001138569, RefSeq Protein:NP_001138570, RefSeq Protein:NP_005405, RefSeq RNA:NM_001145097, RefSeq RNA:NM_001145098, RefSeq RNA:NM_005414, UCSC Genome Browser:NM_005414, UniProtKB:B4DT50, UniProtKB:P12757 No chr3 170075473 170114637 170357678 170396849 +PA165479509 390598 HGNC:21326 ENSG00000188779 SKI family transcriptional corepressor 1 SKOR1 corepressor for LBX1, functional smad suppressing element 15, transcriptional corepressor CORL1 CORL1, FUSSEL15, LBXCOR1 Yes No Ensembl:ENSG00000188779, GeneCard:SKOR1, HGNC:HGNC:21326, ModBase:P84550, NCBI Gene:390598, OMIM:611273, RefSeq DNA:NT_010194, RefSeq Protein:NP_001026977, RefSeq RNA:NM_001031807, UniProtKB:A6NJY0 No chr15 68112042 68126498 67819704 67834561 +PA165429121 652991 HGNC:32695 ENSG00000215474 SKI family transcriptional corepressor 2 SKOR2 functional smad suppressing element 18 CORL2, FUSSEL18, Fussel-18 Yes Yes Ensembl:ENSG00000215474, GeneCard:SKOR2, HGNC:HGNC:32695, NCBI Gene:652991, RefSeq DNA:NT_010966, RefSeq Protein:XP_001713987, RefSeq Protein:XP_001714189, RefSeq Protein:XP_001715271, RefSeq RNA:XM_001713935, RefSeq RNA:XM_001714137, RefSeq RNA:XM_001715219 No chr18 44738460 44775554 47206182 47249524 +PA162403424 6500 HGNC:10899 ENSG00000113558 S-phase kinase associated protein 1 SKP1 S-phase kinase-associated protein 1 EMC19, MGC34403, OCP-II, OCP2, SKP1A, TCEB1L, p19A Yes No Ensembl:ENSG00000113558, GeneCard:SKP1, HGNC:HGNC:10899, HumanCyc Gene:HS03694, ModBase:P63208, NCBI Gene:6500, OMIM:601434, RefSeq DNA:NT_034772, RefSeq DNA:NT_079593, RefSeq Protein:NP_008861, RefSeq Protein:NP_733779, RefSeq RNA:NM_006930, RefSeq RNA:NM_170679, UniProtKB:P63208 No chr5 133492082 133512724 134156391 134177033 +PA36377 6922 HGNC:33696 ENSG00000231234 S-phase kinase-associated protein 1 pseudogene 1 SKP1P1 EMC19 Yes No Ensembl:ENSG00000231234, GeneCard:SKP1P1, HGNC:HGNC:33696, NCBI Gene:6922, RefSeq DNA:NG_002399, RefSeq DNA:NT_007758, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, UCSC Genome Browser:NM_003197 No chr7 65887829 65888973 66422642 66423986 +PA35801 6502 HGNC:10901 ENSG00000145604 S-phase kinase associated protein 2 SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase FBL1, FBXL1, p45 Yes No Comparative Toxicogenomics Database:6502, Ensembl:ENSG00000145604, GenAtlas:SKP2, GeneCard:SKP2, HGNC:HGNC:10901, HumanCyc Gene:HS07264, ModBase:Q13309, NCBI Gene:6502, OMIM:601436, RefSeq DNA:NT_006576, RefSeq Protein:NP_005974, RefSeq Protein:NP_116026, RefSeq RNA:NM_005983, RefSeq RNA:NM_032637, UCSC Genome Browser:NM_005983, UniProtKB:Q13309 No chr5 36152091 36184143 36151989 36192792 +PA35802 6503 HGNC:10902 ENSG00000155926 Src like adaptor SLA Src-like-adaptor SLA1, SLAP, SLAP-1, hSLAP Yes No Comparative Toxicogenomics Database:6503, Ensembl:ENSG00000155926, GenAtlas:SLA, GeneCard:SLA, HGNC:HGNC:10902, HumanCyc Gene:HS08082, ModBase:Q13239, NCBI Gene:6503, OMIM:601099, RefSeq DNA:NT_008046, RefSeq Protein:NP_001039021, RefSeq Protein:NP_001039022, RefSeq Protein:NP_006739, RefSeq RNA:NM_001045556, RefSeq RNA:NM_001045557, RefSeq RNA:NM_006748, UCSC Genome Browser:NM_006748, UniProtKB:Q13239, UniProtKB:Q6FI01 No chr8 134048973 134115604 133036728 133103360 +PA38231 84174 HGNC:17329 ENSG00000101082 Src like adaptor 2 SLA2 Src-like-adaptor 2 C20orf156, FLJ21992, SLAP-2 Yes No Ensembl:ENSG00000101082, GenAtlas:SLA2, GeneCard:SLA2, HGNC:HGNC:17329, HumanCyc Gene:HS02190, ModBase:Q9H6Q3, NCBI Gene:84174, OMIM:606577, RefSeq DNA:NT_011362, RefSeq Protein:NP_115590, RefSeq Protein:NP_778252, RefSeq RNA:NM_032214, RefSeq RNA:NM_175077, UCSC Genome Browser:NM_032214, UniProtKB:Q9H6Q3 No chr20 35240922 35274619 36612519 36646216 +PA162403440 122060 HGNC:26387 ENSG00000139737 SLAIN motif family member 1 SLAIN1 SLAIN motif family, member 1 C13orf32, FLJ30046 Yes No Ensembl:ENSG00000139737, GeneCard:SLAIN1, HGNC:HGNC:26387, HumanCyc Gene:HS13797, NCBI Gene:122060, OMIM:610491, RefSeq DNA:NT_024524, RefSeq Protein:NP_001035243, RefSeq Protein:NP_001229797, RefSeq Protein:NP_001229798, RefSeq Protein:NP_001229799, RefSeq Protein:NP_001229800, RefSeq Protein:NP_653196, RefSeq RNA:NM_001040153, RefSeq RNA:NM_001242868, RefSeq RNA:NM_001242869, RefSeq RNA:NM_001242870, RefSeq RNA:NM_001242871, RefSeq RNA:NM_144595, UniProtKB:Q7L0J2, UniProtKB:Q8ND83 No chr13 78271989 78338377 77697854 77764242 +PA162403457 57606 HGNC:29282 ENSG00000109171 SLAIN motif family member 2 SLAIN2 SLAIN motif family, member 2 FLJ21611, KIAA1458 Yes No Ensembl:ENSG00000109171, GeneCard:SLAIN2, HGNC:HGNC:29282, ModBase:Q9P270, NCBI Gene:57606, OMIM:610492, RefSeq DNA:NT_006238, RefSeq Protein:NP_065897, RefSeq RNA:NM_020846, UniProtKB:Q9P270 No chr4 48343497 48428218 48341480 48426198 +PA35803 6504 HGNC:10903 ENSG00000117090 signaling lymphocytic activation molecule family member 1 SLAMF1 CD150, SLAM Yes No Comparative Toxicogenomics Database:6504, Ensembl:ENSG00000117090, GenAtlas:SLAMF1, GeneCard:SLAMF1, HGNC:HGNC:10903, HumanCyc Gene:HS04091, ModBase:Q13291, NCBI Gene:6504, OMIM:603492, RefSeq DNA:NT_004487, RefSeq Protein:NP_003028, RefSeq RNA:NM_003037, UCSC Genome Browser:NM_003037, UniProtKB:Q13291 No chr1 160579891 160617081 160608103 160647537 +PA134959277 114836 HGNC:21392 ENSG00000162739 SLAM family member 6 SLAMF6 CD352, KALI, KALIb, Ly108, NTB-A, NTBA, SF2000 Yes No Ensembl:ENSG00000162739, GeneCard:SLAMF6, HGNC:HGNC:21392, HumanCyc Gene:HS08733, ModBase:Q96DU3, NCBI Gene:114836, OMIM:606446, RefSeq DNA:NT_004487, RefSeq Protein:NP_001171643, RefSeq Protein:NP_001171644, RefSeq Protein:NP_001171645, RefSeq Protein:NP_443163, RefSeq RNA:NM_001184714, RefSeq RNA:NM_001184715, RefSeq RNA:NM_001184716, RefSeq RNA:NM_052931, UniProtKB:B2R8X8, UniProtKB:Q5TAS6, UniProtKB:Q96DU3 No chr1 160454820 160493052 160485030 160523268 +PA134977110 57823 HGNC:21394 ENSG00000026751 SLAM family member 7 SLAMF7 19A, CD319, CRACC, CS1 Yes No Ensembl:ENSG00000026751, GeneCard:SLAMF7, HGNC:HGNC:21394, HumanCyc Gene:HS00453, ModBase:Q9NQ25, NCBI Gene:57823, OMIM:606625, RefSeq DNA:NT_004487, RefSeq Protein:NP_067004, RefSeq RNA:NM_021181, UniProtKB:Q9NQ25 No chr1 160708865 160724611 160739057 160754821 +PA134983606 56833 HGNC:21391 ENSG00000158714 SLAM family member 8 SLAMF8 BLAME, CD353, SBBI42 Yes No Comparative Toxicogenomics Database:56833, Ensembl:ENSG00000158714, GeneCard:SLAMF8, HGNC:HGNC:21391, HumanCyc Gene:HS14730, ModBase:Q9P0V8, NCBI Gene:56833, OMIM:606620, RefSeq DNA:NT_004487, RefSeq Protein:NP_064510, RefSeq RNA:NM_020125, UniProtKB:Q9P0V8 No chr1 159796440 159807282 159826650 159837497 +PA134993219 89886 HGNC:18430 ENSG00000162723 SLAM family member 9 SLAMF9 CD2F-10, CD84-H1, SF2001 Yes No Comparative Toxicogenomics Database:89886, Ensembl:ENSG00000162723, GeneCard:SLAMF9, HGNC:HGNC:18430, HumanCyc Gene:HS14958, ModBase:Q96A28, NCBI Gene:89886, OMIM:608589, RefSeq DNA:NT_004487, RefSeq Protein:NP_001139644, RefSeq Protein:NP_001139645, RefSeq Protein:NP_254273, RefSeq RNA:NM_001146172, RefSeq RNA:NM_001146173, RefSeq RNA:NM_033438, UniProtKB:Q6NSE6, UniProtKB:Q96A28 No chr1 159921282 159924044 159951492 159984730 +PA35804 7884 HGNC:10904 ENSG00000163950 stem-loop histone mRNA binding protein SLBP histone binding protein, stem-loop binding protein HBP Yes No Comparative Toxicogenomics Database:7884, Ensembl:ENSG00000163950, GenAtlas:SLBP, GeneCard:SLBP, HGNC:HGNC:10904, HumanCyc Gene:HS08973, ModBase:Q14493, NCBI Gene:7884, OMIM:602422, RefSeq DNA:NT_006051, RefSeq Protein:NP_006518, RefSeq RNA:NM_006527, UCSC Genome Browser:NM_006527, UniProtKB:Q14493, UniProtKB:Q53XR2 No chr4 1694527 1714421 1692731 1712741 +PA317 6554 HGNC:10905 ENSG00000100652 solute carrier family 10 member 1 SLC10A1 """Na+/taurocholate cotransporting polypeptide"", ""solute carrier family 10 (sodium/bile acid cotransporter family), member 1"", ""solute carrier family 10 (sodium/bile acid cotransporter), member 1""" NTCP, NTCP1 Yes Yes Comparative Toxicogenomics Database:6554, Ensembl:ENSG00000100652, GenAtlas:SLC10A1, GeneCard:SLC10A1, HGNC:HGNC:10905, HumanCyc Gene:HS02131, ModBase:Q14973, NCBI Gene:6554, OMIM:182396, RefSeq DNA:NT_026437, RefSeq Protein:NP_003040, RefSeq RNA:NM_003049, UCSC Genome Browser:NM_003049, UniProtKB:B2RA41, UniProtKB:Q14973 No chr14 70242552 70264006 69775835 69797289 +PA318 6555 HGNC:10906 ENSG00000125255 solute carrier family 10 member 2 SLC10A2 """Na+/taurocholate cotransporting polypeptide 2"", ""apical sodium-dependent bile acid transporter"", ""ileal bile acid transporter"", ""ileal sodium-dependent bile acid transporter"", ""solute carrier family 10 (sodium/bile acid cotransporter family), member 2"", ""solute carrier family 10 (sodium/bile acid cotransporter), member 2""" ASBT, IBAT, ISBT, NTCP2 Yes Yes Comparative Toxicogenomics Database:6555, Ensembl:ENSG00000125255, GenAtlas:SLC10A2, GeneCard:SLC10A2, HGNC:HGNC:10906, HumanCyc Gene:HS04864, ModBase:Q12908, NCBI Gene:6555, OMIM:601295, OMIM:613291, RefSeq DNA:NG_016648, RefSeq DNA:NT_009952, RefSeq Protein:NP_000443, RefSeq RNA:NM_000452, UCSC Genome Browser:NM_000452, UniProtKB:Q12908 No chr13 103696348 103719196 103043998 103066846 +PA134886398 8273 HGNC:22979 ENSG00000126903 solute carrier family 10 member 3 SLC10A3 """solute carrier family 10 (sodium/bile acid cotransporter family), member 3"", ""solute carrier family 10, member 3""" DXS253E, P3 Yes No Comparative Toxicogenomics Database:8273, Ensembl:ENSG00000126903, GeneCard:SLC10A3, HGNC:HGNC:22979, HumanCyc Gene:HS05060, ModBase:P09131, NCBI Gene:8273, OMIM:312090, RefSeq DNA:NG_013261, RefSeq DNA:NT_167198, RefSeq Protein:NP_001135863, RefSeq Protein:NP_001135864, RefSeq Protein:NP_062822, RefSeq RNA:NM_001142391, RefSeq RNA:NM_001142392, RefSeq RNA:NM_019848, UniProtKB:P09131, UniProtKB:Q9BSL2 No chrX 153715645 153719002 154487306 154490690 +PA134941471 201780 HGNC:22980 ENSG00000145248 solute carrier family 10 member 4 SLC10A4 """solute carrier family 10 (sodium/bile acid cotransporter family), member 4"", ""solute carrier family 10, member 4""" MGC29802 Yes No Comparative Toxicogenomics Database:201780, Ensembl:ENSG00000145248, GeneCard:SLC10A4, HGNC:HGNC:22980, HumanCyc Gene:HS07240, ModBase:Q96EP9, NCBI Gene:201780, RefSeq DNA:NT_006238, RefSeq Protein:NP_689892, RefSeq RNA:NM_152679, UniProtKB:Q96EP9 No chr4 48485360 48491541 48483343 48489524 +PA134933839 347051 HGNC:22981 ENSG00000253598 solute carrier family 10 member 5 SLC10A5 """Na(+)/bile acid cotransporter 5"", ""Sodium/bile acid cotransporter 5"", ""solute carrier family 10 (sodium/bile acid cotransporter family), member 5"", ""solute carrier family 10, member 5""" Yes No Ensembl:ENSG00000253598, GeneCard:SLC10A5, HGNC:HGNC:22981, ModBase:Q5PT55, NCBI Gene:347051, RefSeq DNA:NT_008183, RefSeq Protein:NP_001010893, RefSeq RNA:NM_001010893, UniProtKB:Q5PT55 No chr8 82605891 82607207 81693656 81694972 +PA142670910 345274 HGNC:30603 ENSG00000145283 solute carrier family 10 member 6 SLC10A6 """solute carrier family 10 (sodium/bile acid cotransporter family), member 6"", ""solute carrier family 10 (sodium/bile acid cotransporter), member 6""" SOAT Yes No Comparative Toxicogenomics Database:345274, Ensembl:ENSG00000145283, GeneCard:SLC10A6, HGNC:HGNC:30603, ModBase:Q3KNW5, NCBI Gene:345274, OMIM:613366, RefSeq DNA:NT_016354, RefSeq Protein:NP_932069, RefSeq RNA:NM_197965, UniProtKB:Q3KNW5 No chr4 87744477 87770416 86823468 86849263 +PA162403478 84068 HGNC:23088 ENSG00000120519 solute carrier family 10 member 7 SLC10A7 """solute carrier family 10 (sodium/bile acid cotransporter family), member 7"", ""solute carrier family 10, member 7""" C4orf13, DKFZp313H0531, DKFZp566M114, DKFZp779O2438, MGC25043 Yes No Ensembl:ENSG00000120519, GeneCard:SLC10A7, HGNC:HGNC:23088, HumanCyc Gene:HS12992, NCBI Gene:84068, OMIM:611459, RefSeq DNA:NT_016354, RefSeq Protein:NP_001025169, RefSeq Protein:NP_115504, RefSeq RNA:NM_001029998, RefSeq RNA:NM_032128, UniProtKB:Q0GE19 No chr4 147175137 147443123 146253981 146522351 +PA319 6556 HGNC:10907 ENSG00000018280 solute carrier family 11 member 1 SLC11A1 """natural resistance-associated macrophage protein 1"", ""solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1"", ""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1""" LSH, NRAMP, NRAMP1 Yes No Comparative Toxicogenomics Database:6556, Ensembl:ENSG00000018280, GenAtlas:SLC11A1, GeneCard:SLC11A1, HGNC:HGNC:10907, HumanCyc Gene:HS00387, ModBase:P49279, NCBI Gene:6556, OMIM:600266, OMIM:607948, OMIM:610446, RefSeq DNA:NG_012128, RefSeq DNA:NT_005403, RefSeq Protein:NP_000569, RefSeq RNA:NM_000578, UCSC Genome Browser:NM_000578, UniProtKB:P49279 No chr2 219246752 219261617 218381766 218396894 +PA259 4891 HGNC:10908 ENSG00000110911 solute carrier family 11 member 2 SLC11A2 """Natural resistance-associated macrophage protein 2"", ""divalent cation transporter 1"", ""divalent metal transporter 1"", ""solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2"", ""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2""" DCT1, DMT-1, DMT1, FLJ37416, NRAMP2 Yes No Comparative Toxicogenomics Database:4891, Ensembl:ENSG00000110911, GenAtlas:SLC11A2, GeneCard:SLC11A2, HGNC:HGNC:10908, HumanCyc Gene:HS03353, ModBase:P49281, NCBI Gene:4891, OMIM:206100, OMIM:600523, RefSeq DNA:NG_021139, RefSeq DNA:NT_029419, RefSeq Protein:NP_000608, RefSeq Protein:NP_001167596, RefSeq Protein:NP_001167597, RefSeq Protein:NP_001167598, RefSeq Protein:NP_001167599, RefSeq Protein:NP_001167600, RefSeq Protein:NP_001167601, RefSeq RNA:NM_000617, RefSeq RNA:NM_001174125, RefSeq RNA:NM_001174126, RefSeq RNA:NM_001174127, RefSeq RNA:NM_001174128, RefSeq RNA:NM_001174129, RefSeq RNA:NM_001174130, RefSeq RNA:NR_033421, RefSeq RNA:NR_033422, UCSC Genome Browser:NM_000617, UniProtKB:B4DK84, UniProtKB:P49281 No chr12 51373566 51422118 50952263 51028335 +PA320 6557 HGNC:10910 ENSG00000074803 solute carrier family 12 member 1 SLC12A1 """Kidney-specific Na-K-Cl symporter"", ""Na-K-2Cl cotransporter 2"", ""bumetanide-sensitive cotransporter type 1"", ""solute carrier family 12 (sodium/potassium/chloride transporter), member 1"", ""solute carrier family 12 (sodium/potassium/chloride transporters), member 1""" BSC, BSC-1, BSC1, CCC2, NKCC2 Yes No Comparative Toxicogenomics Database:6557, Ensembl:ENSG00000074803, GenAtlas:SLC12A1, GeneCard:SLC12A1, HGNC:HGNC:10910, HumanCyc Gene:HS01153, ModBase:Q13621, NCBI Gene:6557, OMIM:600839, OMIM:601678, RefSeq DNA:NG_021301, RefSeq DNA:NT_010194, RefSeq Protein:NP_000329, RefSeq Protein:NP_001171761, RefSeq RNA:NM_000338, RefSeq RNA:NM_001184832, UCSC Genome Browser:NM_000338, UniProtKB:Q13621, UniProtKB:Q8IUN5 No chr15 48498498 48596275 48206301 48304078 +PA35806 6558 HGNC:10911 ENSG00000064651 solute carrier family 12 member 2 SLC12A2 """basolateral Na-K-Cl symporter"", ""bumetanide-sensitive cotransporter type 2"", ""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""protein phosphatase 1, regulatory subunit 141"", ""solute carrier family 12 (sodium/potassium/chloride transporter), member 2"", ""solute carrier family 12 (sodium/potassium/chloride transporters), member 2""" BSC, BSC-2, BSC2, CCC1, NKCC1, PPP1R141 Yes No Comparative Toxicogenomics Database:6558, Ensembl:ENSG00000064651, GenAtlas:SLC12A2, GeneCard:SLC12A2, HGNC:HGNC:10911, HumanCyc Gene:HS00810, ModBase:P55011, NCBI Gene:6558, OMIM:600840, RefSeq DNA:NT_034772, RefSeq Protein:NP_001037, RefSeq RNA:NM_001046, UCSC Genome Browser:NM_001046, UniProtKB:P55011, UniProtKB:Q53ZR1 No chr5 127419483 127525380 128083791 128189688 +PA321 6559 HGNC:10912 ENSG00000070915 solute carrier family 12 member 3 SLC12A3 """Na-Cl symporter"", ""Thiazide-sensitive sodium-chloride cotransporter"", ""sodium-chloride co-transporter"", ""solute carrier family 12 (sodium/chloride transporter), member 3"", ""solute carrier family 12 (sodium/chloride transporters), member 3""" NCC, NCCT, TSC Yes Yes Comparative Toxicogenomics Database:6559, Ensembl:ENSG00000070915, GenAtlas:SLC12A3, GeneCard:SLC12A3, HGNC:HGNC:10912, HumanCyc Gene:HS01018, NCBI Gene:6559, OMIM:263800, OMIM:600968, RefSeq DNA:NG_009386, RefSeq DNA:NT_010498, RefSeq Protein:NP_000330, RefSeq Protein:NP_001119579, RefSeq Protein:NP_001119580, RefSeq RNA:NM_000339, RefSeq RNA:NM_001126107, RefSeq RNA:NM_001126108, UCSC Genome Browser:NM_000339, UniProtKB:P55017 No chr16 56899119 56949762 56865207 56915850 +PA35807 6560 HGNC:10913 ENSG00000124067 solute carrier family 12 member 4 SLC12A4 """solute carrier family 12 (potassium/chloride transporter), member 4"", ""solute carrier family 12 (potassium/chloride transporters), member 4""" KCC1 Yes No Comparative Toxicogenomics Database:6560, Ensembl:ENSG00000124067, GenAtlas:SLC12A4, GeneCard:SLC12A4, HGNC:HGNC:10913, HumanCyc Gene:HS04708, ModBase:Q9UP95, NCBI Gene:6560, OMIM:604119, RefSeq DNA:NT_010498, RefSeq Protein:NP_001139433, RefSeq Protein:NP_001139434, RefSeq Protein:NP_001139435, RefSeq Protein:NP_001139436, RefSeq Protein:NP_005063, RefSeq RNA:NM_001145961, RefSeq RNA:NM_001145962, RefSeq RNA:NM_001145963, RefSeq RNA:NM_001145964, RefSeq RNA:NM_005072, UCSC Genome Browser:NM_005072, UniProtKB:B4DF30, UniProtKB:B4DF69, UniProtKB:B4DR04, UniProtKB:B7ZAV0, UniProtKB:Q9UP95 No chr16 67977377 68002597 67943474 67968694 +PA37814 57468 HGNC:13818 ENSG00000124140 solute carrier family 12 member 5 SLC12A5 """K-Cl cotransporter 2"", ""solute carrier family 12 (potassium/chloride transporter), member 5""" KCC2, KIAA1176, hKCC2 Yes No Comparative Toxicogenomics Database:57468, Ensembl:ENSG00000124140, GenAtlas:SLC12A5, GeneCard:SLC12A5, HGNC:HGNC:13818, HumanCyc Gene:HS04719, NCBI Gene:57468, OMIM:606726, RefSeq DNA:NT_011362, RefSeq Protein:NP_001128243, RefSeq Protein:NP_065759, RefSeq RNA:NM_001134771, RefSeq RNA:NM_020708, UCSC Genome Browser:NM_020708, UniProtKB:Q9H2X9 No chr20 44650329 44688789 46021690 46060150 +PA35808 9990 HGNC:10914 ENSG00000140199 solute carrier family 12 member 6 SLC12A6 """K-Cl cotransporter 3"", ""solute carrier family 12 (potassium/chloride transporter), member 6"", ""solute carrier family 12 (potassium/chloride transporters), member 6""" ACCPN, KCC3, KCC3A, KCC3B Yes No Comparative Toxicogenomics Database:9990, Ensembl:ENSG00000140199, GenAtlas:SLC12A6, GeneCard:SLC12A6, HGNC:HGNC:10914, HumanCyc Gene:HS06688, ModBase:Q9UHW9, NCBI Gene:9990, OMIM:218000, OMIM:604878, RefSeq DNA:NG_007951, RefSeq DNA:NT_010194, RefSeq Protein:NP_001035959, RefSeq Protein:NP_001035960, RefSeq Protein:NP_001035961, RefSeq Protein:NP_001035962, RefSeq Protein:NP_005126, RefSeq Protein:NP_598408, RefSeq RNA:NM_001042494, RefSeq RNA:NM_001042495, RefSeq RNA:NM_001042496, RefSeq RNA:NM_001042497, RefSeq RNA:NM_005135, RefSeq RNA:NM_133647, UCSC Genome Browser:NM_005135, UniProtKB:A0AV76, UniProtKB:Q2VI00, UniProtKB:Q6NSI7, UniProtKB:Q7Z2E7, UniProtKB:Q7Z4G5, UniProtKB:Q9UHW9 No chr15 34522197 34630265 34229996 34338064 +PA35809 10723 HGNC:10915 ENSG00000113504 solute carrier family 12 member 7 SLC12A7 """solute carrier family 12 (potassium/chloride transporter), member 7"", ""solute carrier family 12 (potassium/chloride transporters), member 7""" DKFZP434F076, KCC4 Yes No Comparative Toxicogenomics Database:10723, Ensembl:ENSG00000113504, GenAtlas:SLC12A7, GeneCard:SLC12A7, HGNC:HGNC:10915, HumanCyc Gene:HS03687, ModBase:Q9Y666, NCBI Gene:10723, OMIM:604879, RefSeq DNA:NT_006576, RefSeq Protein:NP_006589, RefSeq RNA:NM_006598, UCSC Genome Browser:NM_006598, UniProtKB:Q9Y666 No chr5 1050489 1112172 1050374 1155887 +PA37991 84561 HGNC:15595 ENSG00000221955 solute carrier family 12 member 8 SLC12A8 """cation-chloride cotransporter 9"", ""solute carrier family 12 (potassium/chloride transporters), member 8"", ""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""solute carrier family 12, member 8""" CCC9 Yes Yes Ensembl:ENSG00000221955, GenAtlas:SLC12A8, GeneCard:SLC12A8, HGNC:HGNC:15595, HumanCyc Gene:HS08952, NCBI Gene:84561, OMIM:611316, RefSeq DNA:NT_005612, RefSeq Protein:NP_001182412, RefSeq Protein:NP_078904, RefSeq RNA:NM_001195483, RefSeq RNA:NM_024628, UCSC Genome Browser:NM_024628, UniProtKB:A0AV02 No chr3 124801480 124931609 125082636 125212765 +PA134921585 56996 HGNC:17435 ENSG00000146828 solute carrier family 12 member 9 SLC12A9 """cation-chloride cotransporter-interacting protein"", ""solute carrier family 12 (potassium/chloride transporters), member 9"", ""solute carrier family 12, member 9""" CIP1 Yes No Comparative Toxicogenomics Database:56996, Ensembl:ENSG00000146828, GeneCard:SLC12A9, HGNC:HGNC:17435, HumanCyc Gene:HS07373, ModBase:Q9BXP2, NCBI Gene:56996, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_064631, RefSeq RNA:NM_020246, UniProtKB:Q9BXP2, UniProtKB:Q9H7I6 No chr7 100450337 100464634 100852719 100867012 +PA322 6561 HGNC:10916 ENSG00000081800 solute carrier family 13 member 1 SLC13A1 """solute carrier family 13 (sodium/sulfate symporter), member 1"", ""solute carrier family 13 (sodium/sulfate symporters), member 1""" NAS1, NaSi-1 Yes No Ensembl:ENSG00000081800, GenAtlas:SLC13A1, GeneCard:SLC13A1, HGNC:HGNC:10916, HumanCyc Gene:HS01402, ModBase:Q9BZW2, NCBI Gene:6561, OMIM:606193, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_071889, RefSeq RNA:NM_022444, UCSC Genome Browser:NM_022444, UniProtKB:A4D0X1, UniProtKB:Q9BZW2 No chr7 122753588 122840025 123113490 123201836 +PA382 9058 HGNC:10917 ENSG00000007216 solute carrier family 13 member 2 SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 NaDC-1 Yes No Comparative Toxicogenomics Database:9058, Ensembl:ENSG00000007216, GenAtlas:SLC13A2, GeneCard:SLC13A2, HGNC:HGNC:10917, HumanCyc Gene:HS00207, ModBase:Q13183, NCBI Gene:9058, OMIM:604148, RefSeq DNA:NT_010799, RefSeq Protein:NP_001139447, RefSeq Protein:NP_001139448, RefSeq Protein:NP_003975, RefSeq RNA:NM_001145975, RefSeq RNA:NM_001145976, RefSeq RNA:NM_003984, RefSeq RNA:NR_027384, UCSC Genome Browser:NM_003984, UniProtKB:B4DPL1, UniProtKB:Q13183 No chr17 26800664 26824799 28473358 28497781 +PA37881 64849 HGNC:14430 ENSG00000158296 solute carrier family 13 member 3 SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 NADC3, SDCT2 Yes Yes Comparative Toxicogenomics Database:64849, Ensembl:ENSG00000158296, GenAtlas:SLC13A3, GeneCard:SLC13A3, HGNC:HGNC:14430, HumanCyc Gene:HS08279, ModBase:Q9BR25, NCBI Gene:64849, OMIM:606411, RefSeq DNA:NT_011362, RefSeq Protein:NP_001011554, RefSeq Protein:NP_001180268, RefSeq Protein:NP_001180269, RefSeq Protein:NP_001180271, RefSeq Protein:NP_073740, RefSeq RNA:NM_001011554, RefSeq RNA:NM_001193339, RefSeq RNA:NM_001193340, RefSeq RNA:NM_001193342, RefSeq RNA:NM_022829, UCSC Genome Browser:NM_022829, UniProtKB:A8MPP9, UniProtKB:Q8WWT9 No chr20 45186462 45313124 46557823 46684485 +PA38045 26266 HGNC:15827 ENSG00000164707 solute carrier family 13 member 4 SLC13A4 """solute carrier family 13 (sodium/sulfate symporter), member 4"", ""solute carrier family 13 (sodium/sulfate symporters), member 4"", ""sulphate transporter 1""" SUT-1, SUT1 Yes No Comparative Toxicogenomics Database:26266, Ensembl:ENSG00000164707, GenAtlas:SLC13A4, GeneCard:SLC13A4, HGNC:HGNC:15827, HumanCyc Gene:HS09120, ModBase:Q9UKG4, NCBI Gene:26266, OMIM:604309, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_036582, RefSeq RNA:NM_012450, UCSC Genome Browser:NM_012450, UniProtKB:Q9UKG4 No chr7 135365979 135412943 135681237 135728204 +PA134950956 284111 HGNC:23089 ENSG00000141485 solute carrier family 13 member 5 SLC13A5 """Na(+)/citrate cotransporter"", ""mammalian INDY homolog (Drosophila)"", ""solute carrier family 13 (sodium-dependent citrate transporter), member 5""" INDY, NACT, mINDY Yes No Ensembl:ENSG00000141485, GeneCard:SLC13A5, HGNC:HGNC:23089, ModBase:Q86YT5, NCBI Gene:284111, OMIM:608305, RefSeq DNA:NT_010718, RefSeq Protein:NP_001137310, RefSeq Protein:NP_808218, RefSeq RNA:NM_001143838, RefSeq RNA:NM_177550, UniProtKB:B7ZLB4, UniProtKB:Q86YT5 No chr17 6588038 6616886 6684713 6713421 +PA35810 6563 HGNC:10918 ENSG00000141469 solute carrier family 14 member 1 (Kidd blood group) SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group) HsT1341, JK, RACH1, RACH2 Yes No Comparative Toxicogenomics Database:6563, Ensembl:ENSG00000141469, GenAtlas:SLC14A1, GeneCard:SLC14A1, HGNC:HGNC:10918, HumanCyc Gene:HS06834, ModBase:Q13336, NCBI Gene:6563, OMIM:111000, RefSeq DNA:NG_011775, RefSeq DNA:NT_010966, RefSeq Protein:NP_001122060, RefSeq Protein:NP_001139508, RefSeq Protein:NP_001139509, RefSeq Protein:NP_056949, RefSeq RNA:NM_001128588, RefSeq RNA:NM_001146036, RefSeq RNA:NM_001146037, RefSeq RNA:NM_015865, UCSC Genome Browser:NM_015865, UniProtKB:A8K0P3, UniProtKB:B3KR62, UniProtKB:C9EHF2, UniProtKB:Q13336 No chr18 43304088 43332485 45724123 45752520 +PA35811 8170 HGNC:10919 ENSG00000132874 solute carrier family 14 member 2 SLC14A2 solute carrier family 14 (urea transporter), member 2 HUT2, UT2 Yes Yes Comparative Toxicogenomics Database:8170, Ensembl:ENSG00000132874, GenAtlas:SLC14A2, GeneCard:SLC14A2, HGNC:HGNC:10919, HumanCyc Gene:HS05702, NCBI Gene:8170, OMIM:601611, RefSeq DNA:NT_010966, RefSeq Protein:NP_001229621, RefSeq Protein:NP_009094, RefSeq RNA:NM_001242692, RefSeq RNA:NM_007163, UCSC Genome Browser:NM_007163, UniProtKB:Q15849 No chr18 42792947 43263072 45196357 45683686 +PA323 6564 HGNC:10920 ENSG00000088386 solute carrier family 15 member 1 SLC15A1 """bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""peptide transporter HPEPT1"", ""solute carrier family 15 (oligopeptide transporter), member 1"", ""solute carrier family 15 oligopeptide transporter member 1""" HPECT1, HPEPT1, PEPT1 Yes Yes Comparative Toxicogenomics Database:6564, Ensembl:ENSG00000088386, GenAtlas:SLC15A1, GeneCard:SLC15A1, HGNC:HGNC:10920, HumanCyc Gene:HS01601, ModBase:P46059, NCBI Gene:6564, OMIM:600544, RefSeq DNA:NG_017032, RefSeq DNA:NT_009952, RefSeq Protein:NP_005064, RefSeq RNA:NM_005073, UCSC Genome Browser:NM_005073, UniProtKB:B2CQT6, UniProtKB:P46059 No chr13 99336055 99404929 98683801 98752675 +PA35812 6565 HGNC:10921 ENSG00000163406 solute carrier family 15 member 2 SLC15A2 """solute carrier family 15 (H+/peptide transporter), member 2"", ""solute carrier family 15 (oligopeptide transporter), member 2""" PEPT2 Yes Yes Comparative Toxicogenomics Database:6565, Ensembl:ENSG00000163406, GenAtlas:SLC15A2, GeneCard:SLC15A2, HGNC:HGNC:10921, HumanCyc Gene:HS08845, ModBase:Q16348, NCBI Gene:6565, OMIM:602339, RefSeq DNA:NT_005612, RefSeq Protein:NP_001139470, RefSeq Protein:NP_066568, RefSeq RNA:NM_001145998, RefSeq RNA:NM_021082, UCSC Genome Browser:NM_021082, UniProtKB:B4E2A7, UniProtKB:Q16348 No chr3 121613171 121663034 121894324 121944187 +PA134919658 51296 HGNC:18068 ENSG00000110446 solute carrier family 15 member 3 SLC15A3 """solute carrier family 15 (oligopeptide transporter), member 3"", ""solute carrier family 15, member 3""" PHT2, hPTR3 Yes No Comparative Toxicogenomics Database:51296, Ensembl:ENSG00000110446, GeneCard:SLC15A3, HGNC:HGNC:18068, HumanCyc Gene:HS03312, NCBI Gene:51296, OMIM:610408, RefSeq DNA:NT_167190, RefSeq Protein:NP_057666, RefSeq RNA:NM_016582, RefSeq RNA:NR_027391, UniProtKB:Q8IY34 No chr11 60704555 60719257 60937083 60952081 +PA134928948 121260 HGNC:23090 ENSG00000139370 solute carrier family 15 member 4 SLC15A4 """solute carrier family 15 (oligopeptide transporter), member 4"", ""solute carrier family 15, member 4""" PHT1, PTR4 Yes No Comparative Toxicogenomics Database:121260, Ensembl:ENSG00000139370, GeneCard:SLC15A4, HGNC:HGNC:23090, HumanCyc Gene:HS06614, ModBase:Q8N697, NCBI Gene:121260, RefSeq DNA:NT_009755, RefSeq Protein:NP_663623, RefSeq RNA:NM_145648, UniProtKB:Q8N697 No chr12 129277739 129308541 128793194 128823996 +PA164725785 729025 HGNC:33455 ENSG00000188991 solute carrier family 15 member 5 SLC15A5 solute carrier family 15, member 5 Yes No Ensembl:ENSG00000188991, GeneCard:SLC15A5, HGNC:HGNC:33455, NCBI Gene:729025, RefSeq DNA:NT_009714, RefSeq Protein:NP_001164269, RefSeq Protein:XP_001129090, RefSeq Protein:XP_001129443, RefSeq Protein:XP_001717047, RefSeq RNA:NM_001170798, RefSeq RNA:XM_001129090, RefSeq RNA:XM_001129443, RefSeq RNA:XM_001716995, UniProtKB:A6NIM6 No chr12 16341419 16430619 16188485 16277685 +PA35813 6566 HGNC:10922 ENSG00000155380 solute carrier family 16 member 1 SLC16A1 """Monocarboxylate transporter 1"", ""solute carrier family 16 (monocarboxylate transporter), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)""" MCT, MCT1 Yes Yes Comparative Toxicogenomics Database:6566, Ensembl:ENSG00000155380, GenAtlas:SLC16A1, GeneCard:SLC16A1, HGNC:HGNC:10922, HumanCyc Gene:HS08049, ModBase:P53985, NCBI Gene:6566, OMIM:245340, OMIM:600682, OMIM:610021, RefSeq DNA:NG_015880, RefSeq DNA:NT_032977, RefSeq Protein:NP_001159968, RefSeq Protein:NP_003042, RefSeq RNA:NM_001166496, RefSeq RNA:NM_003051, UCSC Genome Browser:NM_003051, UniProtKB:B4DKS0, UniProtKB:P53985, UniProtKB:Q5T8R6 No chr1 113454469 113498975 112911847 112956353 +PA38197 117247 HGNC:17027 ENSG00000112394 solute carrier family 16 member 10 SLC16A10 """solute carrier family 16 (aromatic amino acid transporter), member 10"", ""solute carrier family 16, member 10 (aromatic amino acid transporter)""" MCT10, TAT1 Yes No Comparative Toxicogenomics Database:117247, Ensembl:ENSG00000112394, GenAtlas:SLC16A10, GeneCard:SLC16A10, HGNC:HGNC:17027, HumanCyc Gene:HS12774, ModBase:Q8TF71, NCBI Gene:117247, OMIM:607550, RefSeq DNA:NT_025741, RefSeq Protein:NP_061063, RefSeq RNA:NM_018593, UCSC Genome Browser:NM_018593, UniProtKB:Q8TF71 No chr6 111408728 111544608 111087503 111227125 +PA134976903 162515 HGNC:23093 ENSG00000174326 solute carrier family 16 member 11 SLC16A11 """monocarboxylic acid transporter 11"", ""solute carrier family 16, member 11"", ""solute carrier family 16, member 11 (monocarboxylic acid transporter 11)""" FLJ90193, MCT11 Yes No Comparative Toxicogenomics Database:162515, Ensembl:ENSG00000174326, GeneCard:SLC16A11, HGNC:HGNC:23093, HumanCyc Gene:HS16320, ModBase:Q8NCK7, NCBI Gene:162515, RefSeq DNA:NT_010718, RefSeq Protein:NP_699188, RefSeq RNA:NM_153357, UniProtKB:Q8NCK7 No chr17 6944949 6947242 7041617 7044411 +PA134969386 387700 HGNC:23094 ENSG00000152779 solute carrier family 16 member 12 SLC16A12 """creatine transporter 2"", ""monocarboxylic acid transporter 12"", ""solute carrier family 16, member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)""" CRT2, MCT12 Yes No Comparative Toxicogenomics Database:387700, Ensembl:ENSG00000152779, GeneCard:SLC16A12, HGNC:HGNC:23094, ModBase:Q6ZSM3, NCBI Gene:387700, OMIM:611910, OMIM:612018, RefSeq DNA:NG_021179, RefSeq DNA:NT_030059, RefSeq Protein:NP_998771, RefSeq RNA:NM_213606, UniProtKB:Q6ZSM3 No chr10 91190051 91295497 89430294 89536028 +PA134991782 201232 HGNC:31037 ENSG00000174327 solute carrier family 16 member 13 SLC16A13 """monocarboxylic acid transporter 13"", ""solute carrier family 16, member 13"", ""solute carrier family 16, member 13 (monocarboxylic acid transporter 13)""" MCT13 Yes No Comparative Toxicogenomics Database:201232, Ensembl:ENSG00000174327, GeneCard:SLC16A13, HGNC:HGNC:31037, ModBase:Q7RTY0, NCBI Gene:201232, RefSeq DNA:NT_010718, RefSeq Protein:NP_963860, RefSeq RNA:NM_201566, UniProtKB:Q7RTY0 No chr17 6939394 6943440 7036075 7040121 +PA134983567 151473 HGNC:26417 ENSG00000163053 solute carrier family 16 member 14 SLC16A14 """monocarboxylic acid transporter 14"", ""solute carrier family 16, member 14"", ""solute carrier family 16, member 14 (monocarboxylic acid transporter 14)""" FLJ30794, MCT14 Yes No Ensembl:ENSG00000163053, GeneCard:SLC16A14, HGNC:HGNC:26417, HumanCyc Gene:HS15013, ModBase:Q7RTX9, NCBI Gene:151473, RefSeq DNA:NT_005403, RefSeq Protein:NP_689740, RefSeq RNA:NM_152527, UniProtKB:Q7RTX9 No chr2 230899690 230933715 230034974 230068999 +PA35814 6567 HGNC:10923 ENSG00000147100 solute carrier family 16 member 2 SLC16A2 """X-linked PEST-containing transporter"", ""monocarboxylate transporter 8"", ""solute carrier family 16, member 2 (thyroid hormone transporter)""" AHDS, DXS128, DXS128E, MCT7, MCT8, MRX22, XPCT Yes No Comparative Toxicogenomics Database:6567, Ensembl:ENSG00000147100, GenAtlas:SLC16A2, GeneCard:SLC16A2, HGNC:HGNC:10923, HumanCyc Gene:HS07391, ModBase:P36021, NCBI Gene:6567, OMIM:300095, OMIM:300523, RefSeq DNA:NG_011641, RefSeq DNA:NT_011669, RefSeq Protein:NP_006508, RefSeq RNA:NM_006517, UCSC Genome Browser:NM_006517, UniProtKB:B1ALU8, UniProtKB:P36021 No chrX 73641328 73753764 74421493 74533929 +PA35815 9123 HGNC:10924 ENSG00000141526 solute carrier family 16 member 3 SLC16A3 """solute carrier family 16 (monocarboxylate transporter), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)""" MCT3, MCT4 Yes No Comparative Toxicogenomics Database:9123, Ensembl:ENSG00000141526, GenAtlas:SLC16A3, GeneCard:SLC16A3, HGNC:HGNC:10924, HumanCyc Gene:HS06843, ModBase:O15427, NCBI Gene:9123, OMIM:603877, RefSeq DNA:NT_010663, RefSeq Protein:NP_001035887, RefSeq Protein:NP_001035888, RefSeq Protein:NP_001193879, RefSeq Protein:NP_001193880, RefSeq Protein:NP_001193881, RefSeq Protein:NP_004198, RefSeq RNA:NM_001042422, RefSeq RNA:NM_001042423, RefSeq RNA:NM_001206950, RefSeq RNA:NM_001206951, RefSeq RNA:NM_001206952, RefSeq RNA:NM_004207, UCSC Genome Browser:NM_004207, UniProtKB:O15427 No chr17 80186282 80197375 82228406 82239499 +PA35816 9122 HGNC:10925 ENSG00000168679 solute carrier family 16 member 4 SLC16A4 """solute carrier family 16, member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)""" MCT4, MCT5 Yes No Comparative Toxicogenomics Database:9122, Ensembl:ENSG00000168679, GenAtlas:SLC16A4, GeneCard:SLC16A4, HGNC:HGNC:10925, HumanCyc Gene:HS09804, ModBase:O15374, NCBI Gene:9122, OMIM:603878, RefSeq DNA:NT_032977, RefSeq Protein:NP_001188475, RefSeq Protein:NP_001188476, RefSeq Protein:NP_001188477, RefSeq Protein:NP_001188478, RefSeq Protein:NP_004687, RefSeq RNA:NM_001201546, RefSeq RNA:NM_001201547, RefSeq RNA:NM_001201548, RefSeq RNA:NM_001201549, RefSeq RNA:NM_004696, UCSC Genome Browser:NM_004696, UniProtKB:O15374 No chr1 110905473 110933704 110362851 110391970 +PA35817 9121 HGNC:10926 ENSG00000170190 solute carrier family 16 member 5 SLC16A5 """solute carrier family 16 (monocarboxylate transporter), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)""" MCT5, MCT6 Yes Yes Ensembl:ENSG00000170190, GenAtlas:SLC16A5, GeneCard:SLC16A5, HGNC:HGNC:10926, HumanCyc Gene:HS10081, ModBase:O15375, NCBI Gene:9121, OMIM:603879, RefSeq DNA:NT_010783, RefSeq Protein:NP_004686, RefSeq RNA:NM_004695, UCSC Genome Browser:NM_004695, UniProtKB:O15375 No chr17 73083822 73102257 75087727 75106590 +PA35818 9120 HGNC:10927 ENSG00000108932 solute carrier family 16 member 6 SLC16A6 """solute carrier family 16, member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)""" MCT6, MCT7 Yes No Comparative Toxicogenomics Database:9120, Ensembl:ENSG00000108932, GenAtlas:SLC16A6, GeneCard:SLC16A6, HGNC:HGNC:10927, HumanCyc Gene:HS03178, ModBase:O15403, NCBI Gene:9120, OMIM:603880, RefSeq DNA:NT_010783, RefSeq Protein:NP_001167637, RefSeq Protein:NP_004685, RefSeq RNA:NM_001174166, RefSeq RNA:NM_004694, UCSC Genome Browser:NM_004694, UniProtKB:O15403 No chr17 66263167 66287405 68267026 68291264 +PA35819 9194 HGNC:10928 ENSG00000118596 solute carrier family 16 member 7 SLC16A7 """solute carrier family 16 (monocarboxylate transporter), member 7"", ""solute carrier family 16, member 7 (monocarboxylic acid transporter 2)""" MCT2 Yes Yes Comparative Toxicogenomics Database:9194, Ensembl:ENSG00000118596, GenAtlas:SLC16A7, GeneCard:SLC16A7, HGNC:HGNC:10928, HumanCyc Gene:HS04236, ModBase:O60669, NCBI Gene:9194, OMIM:603654, RefSeq DNA:NT_029419, RefSeq Protein:NP_004722, RefSeq RNA:NM_004731, UCSC Genome Browser:NM_004731, UniProtKB:Q8NEM3 No chr12 59989821 60183636 59595934 59789855 +PA38106 23539 HGNC:16270 ENSG00000100156 solute carrier family 16 member 8 SLC16A8 """monocarboxylate transporter 3"", ""solute carrier family 16 (monocarboxylate transporter), member 8"", ""solute carrier family 16, member 8 (monocarboxylic acid transporter 3)""" MCT3, REMP Yes No Comparative Toxicogenomics Database:23539, Ensembl:ENSG00000100156, GenAtlas:SLC16A8, GeneCard:SLC16A8, HGNC:HGNC:16270, HumanCyc Gene:HS01990, ModBase:O95907, NCBI Gene:23539, OMIM:610409, RefSeq DNA:NT_011520, RefSeq Protein:NP_037488, RefSeq RNA:NM_013356, UCSC Genome Browser:NM_013356, UniProtKB:O95907 No chr22 38474144 38479170 38078137 38083163 +PA134991247 220963 HGNC:23520 ENSG00000165449 solute carrier family 16 member 9 SLC16A9 """monocarboxylic acid transporter 9"", ""solute carrier family 16, member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)""" C10orf36, FLJ43803, MCT9 Yes No Ensembl:ENSG00000165449, GeneCard:SLC16A9, HGNC:HGNC:23520, ModBase:Q7RTY1, NCBI Gene:220963, RefSeq DNA:NT_030059, RefSeq Protein:NP_919274, RefSeq RNA:NM_194298, UniProtKB:Q7RTY1 No chr10 61410522 61469649 59650764 59710079 +PA35820 6568 HGNC:10929 ENSG00000124568 solute carrier family 17 member 1 SLC17A1 """solute carrier family 17 (organic anion transporter), member 1"", ""solute carrier family 17 (sodium phosphate), member 1""" NAPI-1, NPT1 Yes Yes Comparative Toxicogenomics Database:6568, Ensembl:ENSG00000124568, GenAtlas:SLC17A1, GeneCard:SLC17A1, HGNC:HGNC:10929, HumanCyc Gene:HS04796, ModBase:Q14916, NCBI Gene:6568, OMIM:182308, RefSeq DNA:NT_007592, RefSeq Protein:NP_005065, RefSeq RNA:NM_005074, UCSC Genome Browser:NM_005074, UniProtKB:Q14916 No chr6 25783125 25832287 25723744 25832108 +PA35821 10246 HGNC:10930 ENSG00000112337 solute carrier family 17 member 2 SLC17A2 """solute carrier family 17 (sodium phosphate), member 2"", ""solute carrier family 17, member 2""" NPT3 Yes No Comparative Toxicogenomics Database:10246, Ensembl:ENSG00000112337, GenAtlas:SLC17A2, GeneCard:SLC17A2, HGNC:HGNC:10930, HumanCyc Gene:HS03562, ModBase:O00624, NCBI Gene:10246, OMIM:611049, RefSeq DNA:NT_007592, RefSeq Protein:NP_005826, RefSeq RNA:NM_005835, UCSC Genome Browser:NM_005835, UniProtKB:O00624 No chr6 25912982 25930954 25912754 25930727 +PA35822 10786 HGNC:10931 ENSG00000124564 solute carrier family 17 member 3 SLC17A3 """solute carrier family 17 (organic anion transporter), member 3"", ""solute carrier family 17 (sodium phosphate), member 3""" NPT4 Yes Yes Comparative Toxicogenomics Database:10786, Ensembl:ENSG00000124564, GenAtlas:SLC17A3, GeneCard:SLC17A3, HGNC:HGNC:10931, HumanCyc Gene:HS04794, ModBase:O00476, NCBI Gene:10786, OMIM:611034, RefSeq DNA:NT_007592, RefSeq Protein:NP_001091956, RefSeq Protein:NP_006623, RefSeq RNA:NM_001098486, RefSeq RNA:NM_006632, UCSC Genome Browser:NM_006632, UniProtKB:B7Z511, UniProtKB:O00476 No chr6 25845328 25874471 25845100 25874243 +PA35823 10050 HGNC:10932 ENSG00000146039 solute carrier family 17 member 4 SLC17A4 """solute carrier family 17 (sodium phosphate), member 4"", ""solute carrier family 17, member 4""" KIAA2138 Yes Yes Comparative Toxicogenomics Database:10050, Ensembl:ENSG00000146039, GenAtlas:SLC17A4, GeneCard:SLC17A4, HGNC:HGNC:10932, HumanCyc Gene:HS07316, ModBase:Q9Y2C5, NCBI Gene:10050, OMIM:604216, RefSeq DNA:NT_007592, RefSeq Protein:NP_005486, RefSeq RNA:NM_005495, UCSC Genome Browser:NM_005495, UniProtKB:Q9Y2C5 No chr6 25754927 25781403 25754673 25781175 +PA35824 26503 HGNC:10933 ENSG00000119899 solute carrier family 17 member 5 SLC17A5 """Salla disease"", ""acidic sugar transporter"", ""infantile sialic acid storage disorder"", ""solute carrier family 17 (acidic sugar transporter), member 5"", ""solute carrier family 17 (anion/sugar transporter), member 5""" AST, ISSD, NSD, SD, SIALIN, SIASD, SLD Yes No Comparative Toxicogenomics Database:26503, Ensembl:ENSG00000119899, GenAtlas:SLC17A5, GeneCard:SLC17A5, HGNC:HGNC:10933, HumanCyc Gene:HS04344, ModBase:Q9NRA2, NCBI Gene:26503, OMIM:269920, OMIM:604322, OMIM:604369, RefSeq DNA:NG_008272, RefSeq DNA:NT_007299, RefSeq Protein:NP_036566, RefSeq RNA:NM_012434, UCSC Genome Browser:NM_012434, UniProtKB:Q9NRA2 No chr6 74303102 74363737 73593378 73654014 +PA424 57084 HGNC:16703 ENSG00000091664 solute carrier family 17 member 6 SLC17A6 """differentiation-associated Na-dependent inorganic phosphate cotransporter"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"", ""solute carrier family 17 (vesicular glutamate transporter), member 6"", ""vesicular glutamate transporter 2""" DNPI, VGLUT2 Yes No Ensembl:ENSG00000091664, GenAtlas:SLC17A6, GeneCard:SLC17A6, HGNC:HGNC:16703, HumanCyc Gene:HS01744, ModBase:Q9P2U8, NCBI Gene:57084, OMIM:607563, RefSeq DNA:NT_009237, RefSeq Protein:NP_065079, RefSeq RNA:NM_020346, UCSC Genome Browser:NM_020346, UniProtKB:Q9P2U8 No chr11 22359667 22401049 22338121 22379503 +PA423 57030 HGNC:16704 ENSG00000104888 solute carrier family 17 member 7 SLC17A7 """solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"", ""solute carrier family 17 (vesicular glutamate transporter), member 7"", ""vesicular glutamate transporter 1""" BNPI, VGLUT1 Yes No Comparative Toxicogenomics Database:57030, Ensembl:ENSG00000104888, GenAtlas:SLC17A7, GeneCard:SLC17A7, HGNC:HGNC:16704, HumanCyc Gene:HS02644, ModBase:Q9P2U7, NCBI Gene:57030, OMIM:605208, RefSeq DNA:NT_011109, RefSeq Protein:NP_064705, RefSeq RNA:NM_020309, UCSC Genome Browser:NM_020309, UniProtKB:Q9P2U7 No chr19 49932655 49945617 49429398 49441551 +PA223010 246213 HGNC:20151 ENSG00000179520 solute carrier family 17 member 8 SLC17A8 """solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"", ""solute carrier family 17 (vesicular glutamate transporter), member 8"", ""vesicular glutamate transporter 3""" DFNA25, VGLUT3 Yes No Comparative Toxicogenomics Database:246213, Ensembl:ENSG00000179520, GeneCard:SLC17A8, HGNC:HGNC:20151, HumanCyc Gene:HS17297, ModBase:Q8NDX2, NCBI Gene:246213, OMIM:605583, OMIM:607557, RefSeq DNA:NG_021175, RefSeq DNA:NT_029419, RefSeq Protein:NP_001138760, RefSeq Protein:NP_647480, RefSeq RNA:NM_001145288, RefSeq RNA:NM_139319, UCSC Genome Browser:NM_139319, UniProtKB:Q8NDX2 No chr12 100750857 100815837 100357079 100422059 +PA164725806 63910 HGNC:16192 ENSG00000101194 solute carrier family 17 member 9 SLC17A9 """solute carrier family 17 (vesicular nucleotide transporter), member 9"", ""solute carrier family 17, member 9""" C20orf59, FLJ23412, VNUT Yes No Ensembl:ENSG00000101194, GeneCard:SLC17A9, HGNC:HGNC:16192, HumanCyc Gene:HS02215, NCBI Gene:63910, OMIM:612107, RefSeq DNA:NT_011333, RefSeq Protein:NP_071365, RefSeq RNA:NM_022082, UniProtKB:Q9BYT1 No chr20 61583999 61599949 62952647 62968597 +PA324 6570 HGNC:10934 ENSG00000036565 solute carrier family 18 member A1 SLC18A1 """solute carrier family 18 (vesicular monoamine transporter), member 1"", ""solute carrier family 18 (vesicular monoamine), member 1""" CGAT, VAT1, VMAT1 Yes No Ensembl:ENSG00000036565, GenAtlas:SLC18A1, GeneCard:SLC18A1, HGNC:HGNC:10934, HumanCyc Gene:HS00518, ModBase:P54219, NCBI Gene:6570, OMIM:193002, RefSeq DNA:NT_167187, RefSeq Protein:NP_001129163, RefSeq Protein:NP_001135796, RefSeq Protein:NP_001135797, RefSeq Protein:NP_003044, RefSeq RNA:NM_001135691, RefSeq RNA:NM_001142324, RefSeq RNA:NM_001142325, RefSeq RNA:NM_003053, UCSC Genome Browser:NM_003053, UniProtKB:P54219, UniProtKB:Q96GL6, UniProtKB:Q9BRE4 No chr8 20002366 20040717 20144855 20183206 +PA325 6571 HGNC:10935 ENSG00000165646 solute carrier family 18 member A2 SLC18A2 """Synaptic vesicular amine transporter"", ""solute carrier family 18 (vesicular monoamine transporter), member 2"", ""solute carrier family 18 (vesicular monoamine), member 2""" SVAT, SVMT, VAT2, VMAT2 Yes Yes Comparative Toxicogenomics Database:6571, Ensembl:ENSG00000165646, GenAtlas:SLC18A2, GeneCard:SLC18A2, HGNC:HGNC:10935, HumanCyc Gene:HS09261, ModBase:Q05940, NCBI Gene:6571, OMIM:193001, RefSeq DNA:NT_030059, RefSeq Protein:NP_003045, RefSeq RNA:NM_003054, UCSC Genome Browser:NM_003054, UniProtKB:Q05940 No chr10 119000584 119038941 117241073 117279430 +PA326 6572 HGNC:10936 ENSG00000187714 solute carrier family 18 member A3 SLC18A3 """solute carrier family 18 (vesicular acetylcholine transporter), member 3"", ""solute carrier family 18 (vesicular acetylcholine), member 3""" VACHT Yes No Comparative Toxicogenomics Database:6572, Ensembl:ENSG00000187714, GenAtlas:SLC18A3, GeneCard:SLC18A3, HGNC:HGNC:10936, ModBase:Q16572, NCBI Gene:6572, OMIM:600336, RefSeq DNA:NT_030059, RefSeq Protein:NP_003046, RefSeq RNA:NM_003055, UCSC Genome Browser:NM_003055, UniProtKB:Q16572 No chr10 50818347 50820766 49610301 49612720 +PA134992727 116843 HGNC:21573 ENSG00000146409 solute carrier family 18 member B1 SLC18B1 solute carrier family 18, subfamily B, member 1 C6orf192, dJ55C23.6 Yes No Ensembl:ENSG00000146409, GeneCard:C6orf192, HGNC:HGNC:21573, HumanCyc Gene:HS14151, ModBase:Q6NT16, NCBI Gene:116843, OMIM:613361, RefSeq DNA:NT_025741, RefSeq Protein:NP_439896, RefSeq RNA:NM_052831, UniProtKB:Q6NT16 No chr6 133090507 133119747 132769368 132798632 +PA327 6573 HGNC:10937 ENSG00000173638 solute carrier family 19 member 1 SLC19A1 """Folate transporter 1"", ""Folate:anion antiporter SLC19A1"", ""intestinal folate carrier 1"", ""reduced folate carrier 1"", ""solute carrier family 19 (folate transporter), member 1""" FOLT, IFC-1, RFC, RFC1, RFT-1, hRFC Yes Yes Comparative Toxicogenomics Database:6573, Ensembl:ENSG00000173638, GenAtlas:SLC19A1, GeneCard:SLC19A1, HGNC:HGNC:10937, HumanCyc Gene:HS10704, ModBase:P41440, NCBI Gene:6573, OMIM:600424, RefSeq DNA:NT_011515, RefSeq Protein:NP_001192135, RefSeq Protein:NP_001192136, RefSeq Protein:NP_919231, RefSeq RNA:NM_001205206, RefSeq RNA:NM_001205207, RefSeq RNA:NM_194255, UCSC Genome Browser:NM_003056, UniProtKB:P41440 No chr21 46934629 46983045 45502517 45563143 +PA35825 10560 HGNC:10938 ENSG00000117479 solute carrier family 19 member 2 SLC19A2 """Thiamine transporter 1"", ""solute carrier family 19 (thiamine transporter), member 2"", ""thiamine-responsive megaloblastic anaemia""" THTR1, TRMA, ThT1 Yes No Comparative Toxicogenomics Database:10560, Ensembl:ENSG00000117479, GenAtlas:SLC19A2, GeneCard:SLC19A2, HGNC:HGNC:10938, HumanCyc Gene:HS04138, ModBase:O60779, NCBI Gene:10560, OMIM:249270, OMIM:603941, RefSeq DNA:NG_008255, RefSeq DNA:NT_004487, RefSeq Protein:NP_008927, RefSeq RNA:NM_006996, UCSC Genome Browser:NM_006996, UniProtKB:O60779 No chr1 169433147 169455208 169463909 169485970 +PA38397 80704 HGNC:16266 ENSG00000135917 solute carrier family 19 member 3 SLC19A3 """solute carrier family 19 (thiamine transporter), member 3"", ""solute carrier family 19, member 3"", ""thiamine transporter 2""" THTR2, hTHTR2, thTr-2 Yes No Comparative Toxicogenomics Database:80704, Ensembl:ENSG00000135917, GenAtlas:SLC19A3, GeneCard:SLC19A3, HGNC:HGNC:16266, HumanCyc Gene:HS06084, ModBase:Q9BZV2, NCBI Gene:80704, OMIM:606152, OMIM:607483, RefSeq DNA:NG_016359, RefSeq DNA:NT_005403, RefSeq Protein:NP_079519, RefSeq RNA:NM_025243, UCSC Genome Browser:NM_025243, UniProtKB:Q9BZV2 No chr2 228549926 228582814 227685210 227718030 +PA164717149 56918 HGNC:25344 ENSG00000042304 solute carrier family 19 member 4, pseudogene SLC19A4P chromosome 2 open reading frame 83 C2orf83, DKFZp547H025 Yes No Ensembl:ENSG00000042304, GeneCard:C2orf83, HGNC:HGNC:25344, HumanCyc Gene:HS00558, NCBI Gene:56918, RefSeq DNA:NT_005403, RefSeq Protein:NP_001155955, RefSeq Protein:NP_064546, RefSeq RNA:NM_001162483, RefSeq RNA:NM_020161, UniProtKB:B8ZZI8, UniProtKB:Q53S99 No chr2 228474806 228498036 227610090 227633320 +PA35826 6505 HGNC:10939 ENSG00000106688 solute carrier family 1 member 1 SLC1A1 """Excitatory amino acid transporter 3"", ""excitatory amino acid carrier 1"", ""solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1""" EAAC1, EAAT3, hEAAC1 Yes Yes Comparative Toxicogenomics Database:6505, Ensembl:ENSG00000106688, GenAtlas:SLC1A1, GeneCard:SLC1A1, HGNC:HGNC:10939, HumanCyc Gene:HS02942, ModBase:P43005, NCBI Gene:6505, OMIM:133550, RefSeq DNA:NG_017044, RefSeq DNA:NT_008413, RefSeq Protein:NP_004161, RefSeq RNA:NM_004170, UCSC Genome Browser:NM_004170, UniProtKB:P43005 No chr9 4490427 4587469 4490427 4587469 +PA35827 6506 HGNC:10940 ENSG00000110436 solute carrier family 1 member 2 SLC1A2 """Excitatory amino acid transporter 2"", ""glutamate transporter-1"", ""human brain glutamate transporter"", ""solute carrier family 1 (glial high affinity glutamate transporter), member 2""" EAAT2, GLT-1, GLT1, HBGT Yes Yes Comparative Toxicogenomics Database:6506, Ensembl:ENSG00000110436, GenAtlas:SLC1A2, GeneCard:SLC1A2, HGNC:HGNC:10940, HumanCyc Gene:HS03311, ModBase:P43004, NCBI Gene:6506, OMIM:600300, RefSeq DNA:NG_008727, RefSeq DNA:NT_009237, RefSeq Protein:NP_001182657, RefSeq Protein:NP_004162, RefSeq RNA:NM_001195728, RefSeq RNA:NM_004171, UCSC Genome Browser:NM_004171, UniProtKB:P43004 No chr11 35272752 35441610 35251205 35420063 +PA35828 6507 HGNC:10941 ENSG00000079215 solute carrier family 1 member 3 SLC1A3 """excitatory amino acid transporter 1"", ""glutamate transporter variant EAAT1ex9skip"", ""glutamate/aspartate transporter 1"", ""solute carrier family 1 (glial high affinity glutamate transporter), member 3""" EA6, EAAT1, GLAST, GLAST-1, GLAST1 Yes Yes Comparative Toxicogenomics Database:6507, Ensembl:ENSG00000079215, GenAtlas:SLC1A3, GeneCard:SLC1A3, HGNC:HGNC:10941, HumanCyc Gene:HS01315, ModBase:P43003, NCBI Gene:6507, OMIM:600111, OMIM:612656, RefSeq DNA:NG_015890, RefSeq DNA:NT_006576, RefSeq Protein:NP_001160167, RefSeq Protein:NP_001160168, RefSeq Protein:NP_004163, RefSeq RNA:NM_001166695, RefSeq RNA:NM_001166696, RefSeq RNA:NM_004172, UCSC Genome Browser:NM_004172, UniProtKB:P43003, UniProtKB:Q4JCQ8, UniProtKB:Q7Z5T0, UniProtKB:Q8N169 No chr5 36606457 36688436 36606355 36688334 +PA35829 6509 HGNC:10942 ENSG00000115902 solute carrier family 1 member 4 SLC1A4 """alanine/serine/cysteine/threonine transporter"", ""neutral amino acid transporter A"", ""solute carrier family 1 (glutamate/neutral amino acid transporter), member 4""" ASCT-1, ASCT1, SATT Yes Yes Comparative Toxicogenomics Database:6509, Ensembl:ENSG00000115902, GenAtlas:SLC1A4, GeneCard:SLC1A4, HGNC:HGNC:10942, HumanCyc Gene:HS03950, ModBase:P43007, NCBI Gene:6509, OMIM:600229, RefSeq DNA:NT_022184, RefSeq Protein:NP_001129053, RefSeq Protein:NP_001180422, RefSeq Protein:NP_003029, RefSeq RNA:NM_001135581, RefSeq RNA:NM_001193493, RefSeq RNA:NM_003038, UCSC Genome Browser:NM_003038, UniProtKB:P43007, UniProtKB:Q53F03 No chr2 65215579 65250999 64988445 65023865 +PA35830 6510 HGNC:10943 ENSG00000105281 solute carrier family 1 member 5 SLC1A5 """ASC amino acid transporter-2"", ""Alanine/serine/cysteine transporter 2"", ""Neutral amino acid transporter B(0)"", ""solute carrier family 1 (neutral amino acid transporter), member 5""" AAAT, ASCT2, M7V1, RDRC Yes No Comparative Toxicogenomics Database:6510, Ensembl:ENSG00000105281, GenAtlas:SLC1A5, GeneCard:SLC1A5, HGNC:HGNC:10943, HumanCyc Gene:HS02705, ModBase:Q15758, NCBI Gene:6510, OMIM:109190, RefSeq DNA:NT_011109, RefSeq Protein:NP_001138616, RefSeq Protein:NP_001138617, RefSeq Protein:NP_005619, RefSeq RNA:NM_001145144, RefSeq RNA:NM_001145145, RefSeq RNA:NM_005628, UCSC Genome Browser:NM_005628, UniProtKB:B4DR77, UniProtKB:B4DWS4, UniProtKB:Q15758, UniProtKB:Q59ES3 No chr19 47263587 47292280 46759685 46788622 +PA35831 6511 HGNC:10944 ENSG00000105143 solute carrier family 1 member 6 SLC1A6 """Excitatory amino acid transporter 4"", ""solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6""" EAAT4 Yes No Comparative Toxicogenomics Database:6511, Ensembl:ENSG00000105143, GenAtlas:SLC1A6, GeneCard:SLC1A6, HGNC:HGNC:10944, HumanCyc Gene:HS02681, ModBase:P48664, NCBI Gene:6511, OMIM:600637, RefSeq DNA:NT_011295, RefSeq Protein:NP_005062, RefSeq RNA:NM_005071, UCSC Genome Browser:NM_005071, UniProtKB:P48664 No chr19 15060845 15121455 14950033 15010643 +PA35832 6512 HGNC:10945 ENSG00000162383 solute carrier family 1 member 7 SLC1A7 """Excitatory amino acid transporter 5"", ""solute carrier family 1 (glutamate transporter), member 7""" EAAT5 Yes No Ensembl:ENSG00000162383, GenAtlas:SLC1A7, GeneCard:SLC1A7, HGNC:HGNC:10945, HumanCyc Gene:HS08665, ModBase:O00341, NCBI Gene:6512, OMIM:604471, RefSeq DNA:NT_032977, RefSeq Protein:NP_006662, RefSeq RNA:NM_006671, UCSC Genome Browser:NM_006671, UniProtKB:O00341, UniProtKB:Q9BW45 No chr1 53552855 53608304 53087179 53142632 +PA35833 6574 HGNC:10946 ENSG00000144136 solute carrier family 20 member 1 SLC20A1 """gibbon ape leukemia virus receptor 1"", ""solute carrier family 20 (phosphate transporter), member 1""" GLVR1, Glvr-1, PiT-1, PiT1 Yes No Comparative Toxicogenomics Database:6574, Ensembl:ENSG00000144136, GenAtlas:SLC20A1, GeneCard:SLC20A1, HGNC:HGNC:10946, HumanCyc Gene:HS07149, ModBase:Q8WUM9, NCBI Gene:6574, OMIM:137570, RefSeq DNA:NT_022135, RefSeq Protein:NP_005406, RefSeq RNA:NM_005415, UCSC Genome Browser:NM_005415, UniProtKB:A7LNJ1, UniProtKB:Q8WUM9 No chr2 113403434 113421402 112645857 112663825 +PA134929488 192127 HGNC:20051 ENSG00000223506 solute carrier family 20 (phosphate transporter), member 1 pseudogene 1 SLC20A1P1 Yes No Ensembl:ENSG00000223506, GeneCard:SLC20A1P1, HGNC:HGNC:20051, NCBI Gene:192127, RefSeq DNA:NG_001019, RefSeq DNA:NT_026437 No chr14 107138647 107140366 106682630 106684349 +PA35165 646052 HGNC:42538 ENSG00000258706 solute carrier family 20 (phosphate transporter), member 1 pseudogene 3 SLC20A1P3 Yes No Ensembl:ENSG00000258706, GenAtlas:IGHV1OR15-2, GeneCard:IGHV1OR15-2, HGNC:HGNC:42538, NCBI Gene:646052, RefSeq DNA:NG_021113, RefSeq DNA:NT_037852 No chr15 20171883 20173618 19966630 19968365 +PA35834 6575 HGNC:10947 ENSG00000168575 solute carrier family 20 member 2 SLC20A2 """Sodium-dependent phosphate transporter 2"", ""gibbon ape leukemia virus receptor 2"", ""solute carrier family 20 (phosphate transporter), member 2""" GLVR2, Glvr-2, MLVAR, PIT2, PiT-2, Ram-1 Yes No Comparative Toxicogenomics Database:6575, Ensembl:ENSG00000168575, GenAtlas:SLC20A2, GeneCard:SLC20A2, HGNC:HGNC:10947, HumanCyc Gene:HS09788, ModBase:Q08357, NCBI Gene:6575, OMIM:158378, RefSeq DNA:NT_167187, RefSeq Protein:NP_006740, RefSeq RNA:NM_006749, RefSeq RNA:XR_110882, UCSC Genome Browser:NM_006749, UniProtKB:Q08357 No chr8 42273980 42397356 42416462 42542213 +PA329 6580 HGNC:10963 ENSG00000175003 solute carrier family 22 member 1 SLC22A1 """organic cation transporter 1"", ""solute carrier family 22 (organic cation transporter), member 1""" OCT1 Yes Yes Comparative Toxicogenomics Database:6580, Ensembl:ENSG00000175003, GenAtlas:SLC22A1, GeneCard:SLC22A1, HGNC:HGNC:10963, HumanCyc Gene:HS10865, ModBase:O15245, NCBI Gene:6580, OMIM:602607, RefSeq DNA:NT_025741, RefSeq Protein:NP_003048, RefSeq Protein:NP_694857, RefSeq RNA:NM_003057, RefSeq RNA:NM_153187, UCSC Genome Browser:NM_003057, UniProtKB:A6NFF3, UniProtKB:O15245 No chr6 160542821 160580147 160121789 160159201 +PA38283 387775 HGNC:18057 ENSG00000184999 solute carrier family 22 member 10 SLC22A10 solute carrier family 22, member 10 OAT5, hOAT5 Yes No Ensembl:ENSG00000184999, GenAtlas:SLC22A10, GeneCard:SLC22A10, HGNC:HGNC:18057, ModBase:Q63ZE4, NCBI Gene:387775, OMIM:607580, RefSeq DNA:NT_167190, RefSeq Protein:NP_001034841, RefSeq RNA:NM_001039752, UniProtKB:Q63ZE4 No chr11 63057372 63079246 63268257 63311983 +PA38295 55867 HGNC:18120 ENSG00000168065 solute carrier family 22 member 11 SLC22A11 solute carrier family 22 (organic anion/urate transporter), member 11 OAT4 Yes Yes Comparative Toxicogenomics Database:55867, Ensembl:ENSG00000168065, GenAtlas:SLC22A11, GeneCard:SLC22A11, HGNC:HGNC:18120, HumanCyc Gene:HS09687, ModBase:Q9NSA0, NCBI Gene:55867, OMIM:607097, RefSeq DNA:NT_167190, RefSeq Protein:NP_060954, RefSeq RNA:NM_018484, UCSC Genome Browser:NM_018484, UniProtKB:Q9NSA0 No chr11 64323098 64339002 64555601 64572875 +PA38478 116085 HGNC:17989 ENSG00000197891 solute carrier family 22 member 12 SLC22A12 """renal-specific transporter"", ""solute carrier family 22 (organic anion/urate transporter), member 12"", ""urate anion transporter 1""" OAT4L, RST, UAT, URAT1, hURAT1 Yes Yes Comparative Toxicogenomics Database:116085, Ensembl:ENSG00000197891, GenAtlas:SLC22A12, GeneCard:SLC22A12, HGNC:HGNC:17989, HumanCyc Gene:HS10274, ModBase:Q96S37, NCBI Gene:116085, OMIM:220150, OMIM:607096, RefSeq DNA:NG_008110, RefSeq DNA:NT_167190, RefSeq Protein:NP_653186, RefSeq Protein:NP_700357, RefSeq RNA:NM_144585, RefSeq RNA:NM_153378, UCSC Genome Browser:NM_144585, UniProtKB:Q96S37 No chr11 64358113 64369825 64590810 64603250 +PA32814 9390 HGNC:8494 ENSG00000172940 solute carrier family 22 member 13 SLC22A13 """solute carrier family 22 (organic anion transporter), member 13"", ""solute carrier family 22 (organic anion/urate transporter), member 13""" OAT10, OCTL1, OCTL3, ORCTL3 Yes No Comparative Toxicogenomics Database:9390, Ensembl:ENSG00000172940, GenAtlas:SLC22A13, GeneCard:SLC22A13, HGNC:HGNC:8494, HumanCyc Gene:HS10596, ModBase:Q9Y226, NCBI Gene:9390, OMIM:604047, RefSeq DNA:NT_022517, RefSeq Protein:NP_004247, RefSeq RNA:NM_004256, UCSC Genome Browser:NM_004256, UniProtKB:Q9Y226 No chr3 38307298 38320161 38265807 38280030 +PA32815 9389 HGNC:8495 ENSG00000144671 solute carrier family 22 member 14 SLC22A14 solute carrier family 22, member 14 OCTL2, ORCTL4 Yes No Ensembl:ENSG00000144671, GenAtlas:SLC22A14, GeneCard:SLC22A14, HGNC:HGNC:8495, HumanCyc Gene:HS07191, ModBase:Q9Y267, NCBI Gene:9389, OMIM:604048, RefSeq DNA:NT_022517, RefSeq Protein:NP_004794, RefSeq RNA:NM_004803, UCSC Genome Browser:NM_004803, UniProtKB:Q9Y267 No chr3 38323785 38360064 38281662 38318575 +PA134870374 55356 HGNC:20301 ENSG00000163393 solute carrier family 22 member 15 SLC22A15 solute carrier family 22, member 15 FLIPT1 Yes No Ensembl:ENSG00000163393, GeneCard:SLC22A15, HGNC:HGNC:20301, HumanCyc Gene:HS08841, ModBase:Q8IZD6, NCBI Gene:55356, OMIM:608275, RefSeq DNA:NT_032977, RefSeq Protein:NP_060890, RefSeq RNA:NM_018420, UniProtKB:Q8IZD6 No chr1 116519119 116612675 115976498 116070054 +PA134911502 85413 HGNC:20302 ENSG00000004809 solute carrier family 22 member 16 SLC22A16 solute carrier family 22 (organic cation/carnitine transporter), member 16 CT2, FLIPT2, OAT6, OKB1 Yes Yes Ensembl:ENSG00000004809, GeneCard:SLC22A16, HGNC:HGNC:20302, HumanCyc Gene:HS00114, ModBase:Q86VW1, NCBI Gene:85413, OMIM:608276, RefSeq DNA:NT_025741, RefSeq Protein:NP_149116, RefSeq RNA:NM_033125, UniProtKB:Q86VW1 No chr6 110745890 110797844 110424587 110476641 +PA134879149 51310 HGNC:23095 ENSG00000092096 solute carrier family 22 member 17 SLC22A17 """neutrophil gelatinase-associated lipocalin receptor"", ""solute carrier family 22, member 17""" BOCT, BOIT, NGALR Yes Yes Comparative Toxicogenomics Database:51310, Ensembl:ENSG00000092096, GeneCard:SLC22A17, HGNC:HGNC:23095, HumanCyc Gene:HS01758, ModBase:Q8WUG5, NCBI Gene:51310, OMIM:611461, RefSeq DNA:NT_026437, RefSeq Protein:NP_057693, RefSeq Protein:NP_065105, RefSeq RNA:NM_016609, RefSeq RNA:NM_020372, UniProtKB:Q8WUG5 No chr14 23815520 23822380 23346304 23354991 +PA35846 5002 HGNC:10964 ENSG00000110628 solute carrier family 22 member 18 SLC22A18 """imprinted multi-membrane-spanning polyspecific transporter-like gene 1"", ""organic cation transporter like 2"", ""solute carrier family 22, member 18""" BWR1A, BWSCR1A, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5 Yes No Comparative Toxicogenomics Database:5002, Ensembl:ENSG00000110628, GenAtlas:SLC22A18, GeneCard:SLC22A18, HGNC:HGNC:10964, HumanCyc Gene:HS03322, ModBase:Q96BI1, NCBI Gene:5002, OMIM:114480, OMIM:211980, OMIM:268210, OMIM:602631, RefSeq DNA:NG_011512, RefSeq DNA:NT_009237, RefSeq Protein:NP_002546, RefSeq Protein:NP_899056, RefSeq RNA:NM_002555, RefSeq RNA:NM_183233, UCSC Genome Browser:NM_002555, UniProtKB:Q96BI1 No chr11 2920951 2946476 2899721 2925246 +PA35847 5003 HGNC:10965 ENSG00000254827 solute carrier family 22 member 18 antisense SLC22A18AS solute carrier family 22 (organic cation transporter), member 18 antisense BWR1B, BWSCR1B, ORCTL2S, SLC22A1LS, p27-BWR1B Yes No Ensembl:ENSG00000254827, GenAtlas:SLC22A18AS, GeneCard:SLC22A18AS, HGNC:HGNC:10965, NCBI Gene:5003, OMIM:603240, RefSeq DNA:NT_009237, RefSeq Protein:NP_009036, RefSeq RNA:NM_007105, UCSC Genome Browser:NM_007105, UniProtKB:Q8N1D0 No chr11 2909327 2925175 2887344 2905504 +PA331 6582 HGNC:10966 ENSG00000112499 solute carrier family 22 member 2 SLC22A2 """organic cation transporter 2"", ""solute carrier family 22 (organic cation transporter), member 2""" OCT2 Yes Yes Comparative Toxicogenomics Database:6582, Ensembl:ENSG00000112499, GenAtlas:SLC22A2, GeneCard:SLC22A2, HGNC:HGNC:10966, HumanCyc Gene:HS03582, ModBase:O15244, NCBI Gene:6582, OMIM:602608, RefSeq DNA:NT_025741, RefSeq Protein:NP_003049, RefSeq RNA:NM_003058, UCSC Genome Browser:NM_003058, UniProtKB:O15244 No chr6 160637794 160679963 160216762 160258931 +PA162403516 63027 HGNC:21106 ENSG00000137266 solute carrier family 22 member 23 SLC22A23 solute carrier family 22, member 23 C6orf85, FLJ22174 Yes No Ensembl:ENSG00000137266, GeneCard:SLC22A23, HGNC:HGNC:21106, NCBI Gene:63027, OMIM:611697, RefSeq DNA:NT_007592, RefSeq Protein:NP_056297, RefSeq Protein:NP_068764, RefSeq RNA:NM_015482, RefSeq RNA:NM_021945, UniProtKB:A1A5C7 No chr6 3269207 3456954 3268973 3456574 +PA162403543 283238 HGNC:28542 ENSG00000197658 solute carrier family 22 member 24 SLC22A24 solute carrier family 22, member 24 MGC34821, NET46 Yes No Ensembl:ENSG00000197658, GeneCard:SLC22A24, HGNC:HGNC:28542, HumanCyc Gene:HS11065, ModBase:Q8N4F4, NCBI Gene:283238, OMIM:611698, RefSeq DNA:NT_167190, RefSeq Protein:NP_001129978, RefSeq RNA:NM_001136506, UniProtKB:C9JC66 No chr11 62847412 62911693 63079940 63144822 +PA162403567 387601 HGNC:32935 ENSG00000196600 solute carrier family 22 member 25 SLC22A25 solute carrier family 22, member 25 HIMTP, MGC120420, UST6 Yes No Ensembl:ENSG00000196600, GeneCard:SLC22A25, HGNC:HGNC:32935, ModBase:Q6T423, NCBI Gene:387601, OMIM:610792, RefSeq DNA:NT_167190, RefSeq Protein:NP_955384, RefSeq RNA:NM_199352, UniProtKB:Q6T423 No chr11 62930523 63005415 63162264 63243523 +PA330 6581 HGNC:10967 ENSG00000146477 solute carrier family 22 member 3 SLC22A3 """extraneuronal monoamine transporter"", ""organic cation transporter 3"", ""solute carrier family 22 (extraneuronal monoamine transporter), member 3"", ""solute carrier family 22 (organic cation transporter), member 3""" EMT, OCT3 Yes Yes Comparative Toxicogenomics Database:6581, Ensembl:ENSG00000146477, GenAtlas:SLC22A3, GeneCard:SLC22A3, HGNC:HGNC:10967, HumanCyc Gene:HS07353, ModBase:O75751, NCBI Gene:6581, OMIM:604842, RefSeq DNA:NT_025741, RefSeq Protein:NP_068812, RefSeq RNA:NM_021977, UCSC Genome Browser:NM_021977, UniProtKB:O75751, UniProtKB:Q5SYN6 No chr6 160769405 160873613 160348373 160454982 +PA166048976 146429 HGNC:27091 ENSG00000259803 solute carrier family 22 member 31 SLC22A31 solute carrier family 22, member 31 Yes No Ensembl:ENSG00000259803, HGNC:HGNC:27091, NCBI Gene:146429 No chr16 89262169 89267757 89195756 89201674 +PA332 6583 HGNC:10968 ENSG00000197208 solute carrier family 22 member 4 SLC22A4 """solute carrier family 22 (organic cation/ergothioneine transporter), member 4"", ""solute carrier family 22 (organic cation/zwitterion transporter), member 4""" DFNB60, MGC34546, OCTN1 Yes Yes Comparative Toxicogenomics Database:6583, Ensembl:ENSG00000197208, GenAtlas:SLC22A4, GeneCard:SLC22A4, HGNC:HGNC:10968, HumanCyc Gene:HS01078, ModBase:Q9H015, NCBI Gene:6583, OMIM:180300, OMIM:266600, OMIM:604190, RefSeq DNA:NG_012129, RefSeq DNA:NT_034772, RefSeq Protein:NP_003050, RefSeq RNA:NM_003059, UCSC Genome Browser:NM_003059, UniProtKB:Q9H015 No chr5 131630145 131679899 132294384 132344206 +PA333 6584 HGNC:10969 ENSG00000197375 solute carrier family 22 member 5 SLC22A5 """organic cation/carnitine transporter 2"", ""solute carrier family 22 (organic cation/carnitine transporter), member 5"", ""systemic carnitine deficiency""" CDSP, OCTN2, SCD Yes Yes Comparative Toxicogenomics Database:6584, Ensembl:ENSG00000197375, GenAtlas:SLC22A5, GeneCard:SLC22A5, HGNC:HGNC:10969, ModBase:O76082, NCBI Gene:6584, OMIM:212140, OMIM:603377, RefSeq DNA:NG_008982, RefSeq DNA:NT_034772, RefSeq Protein:NP_003051, RefSeq RNA:NM_003060, UCSC Genome Browser:NM_003060, UniProtKB:O76082 No chr5 131705396 131731306 132369704 132395614 +PA388 9356 HGNC:10970 ENSG00000197901 solute carrier family 22 member 6 SLC22A6 solute carrier family 22 (organic anion transporter), member 6 OAT1, PAHT, ROAT1 Yes Yes Comparative Toxicogenomics Database:9356, Ensembl:ENSG00000197901, GenAtlas:SLC22A6, GeneCard:SLC22A6, HGNC:HGNC:10970, HumanCyc Gene:HS07613, ModBase:Q9NQC2, NCBI Gene:9356, OMIM:607582, RefSeq DNA:NT_167190, RefSeq Protein:NP_004781, RefSeq Protein:NP_695008, RefSeq Protein:NP_695009, RefSeq Protein:NP_695010, RefSeq RNA:NM_004790, RefSeq RNA:NM_153276, RefSeq RNA:NM_153277, RefSeq RNA:NM_153278, UCSC Genome Browser:NM_004790, UniProtKB:B3KP57, UniProtKB:Q4U2R8 No chr11 62744069 62752495 62976597 62985023 +PA35848 10864 HGNC:10971 ENSG00000137204 solute carrier family 22 member 7 SLC22A7 solute carrier family 22 (organic anion transporter), member 7 NLT, OAT2 Yes Yes Comparative Toxicogenomics Database:10864, Ensembl:ENSG00000137204, GenAtlas:SLC22A7, GeneCard:SLC22A7, HGNC:HGNC:10971, HumanCyc Gene:HS06292, ModBase:Q9Y694, NCBI Gene:10864, OMIM:604995, RefSeq DNA:NT_007592, RefSeq Protein:NP_006663, RefSeq Protein:NP_696961, RefSeq RNA:NM_006672, RefSeq RNA:NM_153320, UCSC Genome Browser:NM_006672, UniProtKB:Q9Y694 No chr6 43265737 43273276 43295694 43305538 +PA389 9376 HGNC:10972 ENSG00000149452 solute carrier family 22 member 8 SLC22A8 solute carrier family 22 (organic anion transporter), member 8 OAT3 Yes Yes Comparative Toxicogenomics Database:9376, Ensembl:ENSG00000149452, GenAtlas:SLC22A8, GeneCard:SLC22A8, HGNC:HGNC:10972, HumanCyc Gene:HS09782, ModBase:Q8TCC7, NCBI Gene:9376, OMIM:607581, RefSeq DNA:NT_167190, RefSeq Protein:NP_001171661, RefSeq Protein:NP_001171662, RefSeq Protein:NP_001171665, RefSeq Protein:NP_004245, RefSeq RNA:NM_001184732, RefSeq RNA:NM_001184733, RefSeq RNA:NM_001184736, RefSeq RNA:NM_004254, UCSC Genome Browser:NM_004254, UniProtKB:Q8TCC7 No chr11 62760296 62783317 62992824 63015845 +PA38102 114571 HGNC:16261 ENSG00000149742 solute carrier family 22 member 9 SLC22A9 solute carrier family 22 (organic anion transporter), member 9 FLJ23666, OAT4, OAT7, UST3 Yes No Comparative Toxicogenomics Database:114571, Ensembl:ENSG00000149742, GenAtlas:SLC22A9, GeneCard:SLC22A9, HGNC:HGNC:16261, HumanCyc Gene:HS07638, ModBase:Q8IVM8, NCBI Gene:114571, OMIM:607579, RefSeq DNA:NT_167190, RefSeq Protein:NP_543142, RefSeq RNA:NM_080866, UCSC Genome Browser:NM_080866, UniProtKB:A4PB24, UniProtKB:Q8IVM8 No chr11 63137142 63177731 63368871 63410878 +PA35850 9963 HGNC:10974 ENSG00000170482 solute carrier family 23 member 1 SLC23A1 """solute carrier family 23 (ascorbic acid transporter), member 1"", ""solute carrier family 23 (nucleobase transporters), member 1""" SLC23A2, SVCT1, YSPL3 Yes No Comparative Toxicogenomics Database:9963, Ensembl:ENSG00000170482, GeneCard:SLC23A1, HGNC:HGNC:10974, HumanCyc Gene:HS10137, ModBase:Q9UHI7, NCBI Gene:9963, OMIM:603790, RefSeq DNA:NT_034772, RefSeq Protein:NP_005838, RefSeq Protein:NP_689898, RefSeq RNA:NM_005847, RefSeq RNA:NM_152685, UCSC Genome Browser:NM_005847, UniProtKB:Q9UHI7 No chr5 138702885 138720632 139367196 139384553 +PA35849 9962 HGNC:10973 ENSG00000089057 solute carrier family 23 member 2 SLC23A2 """solute carrier family 23 (ascorbic acid transporter), member 2"", ""solute carrier family 23 (nucleobase transporters), member 2""" KIAA0238, SLC23A1, SVCT2, YSPL2 Yes No Comparative Toxicogenomics Database:9962, Ensembl:ENSG00000089057, GeneCard:SLC23A2, HGNC:HGNC:10973, HumanCyc Gene:HS01629, ModBase:Q9UGH3, NCBI Gene:9962, OMIM:603791, RefSeq DNA:NT_011387, RefSeq Protein:NP_005107, RefSeq Protein:NP_976072, RefSeq RNA:NM_005116, RefSeq RNA:NM_203327, UCSC Genome Browser:NM_005116, UniProtKB:Q9UGH3 No chr20 4833002 4990939 4852356 5010293 +PA134932069 151295 HGNC:20601 ENSG00000213901 solute carrier family 23 member 3 SLC23A3 """solute carrier family 23 (nucleobase transporters), member 3"", ""solute carrier family 23, member 3""" FLJ31168, SVCT3, Yspl1 Yes No Ensembl:ENSG00000213901, GeneCard:SLC23A3, HGNC:HGNC:20601, NCBI Gene:151295, RefSeq DNA:NT_005403, RefSeq Protein:NP_001138361, RefSeq Protein:NP_001138362, RefSeq Protein:NP_653313, RefSeq RNA:NM_001144889, RefSeq RNA:NM_001144890, RefSeq RNA:NM_144712, UniProtKB:B7Z508, UniProtKB:B7Z512, UniProtKB:Q6PIS1 No chr2 220026181 220035549 219161459 219170095 +PA134885921 641842 HGNC:20602 ENSG00000276067 solute carrier family 23 (nucleobase transporters), member 4, pseudogene SLC23A4P Yes No Ensembl:ENSG00000276067, GeneCard:SLC23A4P, HGNC:HGNC:20602, NCBI Gene:641842, RefSeq DNA:NG_006548, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596 No chr7 134961969 134998313 135277217 135313561 +PA35851 9187 HGNC:10975 ENSG00000074621 solute carrier family 24 member 1 SLC24A1 """Na/Ca-K exchanger 1"", ""retinal rod Na+/Ca+/K+ exchanger"", ""solute carrier family 24 (sodium/potassium/calcium exchanger), member 1""" CSNB1D, HsT17412, KIAA0702, NCKX, NCKX1, RODX Yes No Ensembl:ENSG00000074621, GenAtlas:SLC24A1, GeneCard:SLC24A1, HGNC:HGNC:10975, HumanCyc Gene:HS01145, ModBase:O60721, NCBI Gene:9187, OMIM:603617, RefSeq DNA:NT_010194, RefSeq Protein:NP_004718, RefSeq RNA:NM_004727, UCSC Genome Browser:NM_004727, UniProtKB:O60721 No chr15 65903618 65953334 65611405 65660995 +PA35852 25769 HGNC:10976 ENSG00000155886 solute carrier family 24 member 2 SLC24A2 """Na/Ca-K exchanger 2"", ""solute carrier family 24 (sodium/potassium/calcium exchanger), member 2""" NCKX2 Yes No Ensembl:ENSG00000155886, GenAtlas:SLC24A2, GeneCard:SLC24A2, HGNC:HGNC:10976, HumanCyc Gene:HS08076, ModBase:Q9UI40, NCBI Gene:25769, OMIM:609838, RefSeq DNA:NT_008413, RefSeq Protein:NP_001180217, RefSeq Protein:NP_065077, RefSeq RNA:NM_001193288, RefSeq RNA:NM_020344, UCSC Genome Browser:NM_020344, UniProtKB:Q9UI40 No chr9 19507450 19789059 19507452 20307888 +PA35853 57419 HGNC:10977 ENSG00000185052 solute carrier family 24 member 3 SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 Yes No Comparative Toxicogenomics Database:57419, Ensembl:ENSG00000185052, GenAtlas:SLC24A3, GeneCard:SLC24A3, HGNC:HGNC:10977, ModBase:Q9HC58, NCBI Gene:57419, OMIM:609839, RefSeq DNA:NT_011387, RefSeq Protein:NP_065740, RefSeq RNA:NM_020689, UCSC Genome Browser:NM_020689, UniProtKB:Q9HC58 No chr20 19193290 19703541 19212646 19722897 +PA35854 123041 HGNC:10978 ENSG00000140090 solute carrier family 24 member 4 SLC24A4 """Na/Ca-K exchanger 4"", ""solute carrier family 24 (sodium/potassium/calcium exchanger), member 4""" NCKX4 Yes Yes Comparative Toxicogenomics Database:123041, Ensembl:ENSG00000140090, GenAtlas:SLC24A4, GeneCard:SLC24A4, HGNC:HGNC:10978, HumanCyc Gene:HS13815, NCBI Gene:123041, OMIM:210750, OMIM:609840, RefSeq DNA:NG_023408, RefSeq DNA:NT_026437, RefSeq Protein:NP_705932, RefSeq Protein:NP_705933, RefSeq Protein:NP_705934, RefSeq RNA:NM_153646, RefSeq RNA:NM_153647, RefSeq RNA:NM_153648, UCSC Genome Browser:NM_153646, UniProtKB:Q8NFF2 No chr14 92788925 92967825 92322581 92501481 +PA134868972 283652 HGNC:20611 ENSG00000188467 solute carrier family 24 member 5 SLC24A5 """Na/Ca-K exchanger 5"", ""oculocutaneous albinism 6 (autosomal recessive)"", ""solute carrier family 24 (sodium/potassium/calcium exchanger), member 5"", ""solute carrier family 24, member 5""" JSX, NCKX5, OCA6 Yes No Comparative Toxicogenomics Database:283652, Ensembl:ENSG00000188467, GeneCard:SLC24A5, HGNC:HGNC:20611, ModBase:Q71RS6, NCBI Gene:283652, OMIM:113750, OMIM:609802, RefSeq DNA:NG_011500, RefSeq DNA:NT_010194, RefSeq Protein:NP_995322, RefSeq RNA:NM_205850, UniProtKB:A5X8Z8, UniProtKB:Q71RS6 No chr15 48413169 48434926 48120972 48142392 +PA35855 6576 HGNC:10979 ENSG00000100075 solute carrier family 25 member 1 SLC25A1 """Tricarboxylate transport protein, mitochondrial"", ""citrate isocitrate carrier"", ""citrate transport protein"", ""solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1""" CIC, CTP, SLC20A3 Yes No Comparative Toxicogenomics Database:6576, Ensembl:ENSG00000100075, GenAtlas:SLC25A1, GeneCard:SLC25A1, HGNC:HGNC:10979, HumanCyc Gene:HS01968, ModBase:P53007, NCBI Gene:6576, OMIM:190315, RefSeq DNA:NT_011519, RefSeq Protein:NP_005975, RefSeq RNA:NM_005984, RefSeq RNA:NR_033687, UCSC Genome Browser:NM_005984, UniProtKB:P53007 No chr22 19163088 19166338 19175575 19178863 +PA35856 1468 HGNC:10980 ENSG00000183048 solute carrier family 25 member 10 SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 DIC Yes No Comparative Toxicogenomics Database:1468, Ensembl:ENSG00000183048, GenAtlas:SLC25A10, GeneCard:SLC25A10, HGNC:HGNC:10980, ModBase:Q9UBX3, NCBI Gene:1468, OMIM:606794, RefSeq DNA:NT_010783, RefSeq Protein:NP_036272, RefSeq RNA:NM_012140, UCSC Genome Browser:NM_012140, UniProtKB:Q9UBX3 No chr17 79679266 79688046 81712236 81721016 +PA35857 8402 HGNC:10981 ENSG00000108528 solute carrier family 25 member 11 SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 OGC, SLC20A4 Yes No Comparative Toxicogenomics Database:8402, Ensembl:ENSG00000108528, GenAtlas:SLC25A11, GeneCard:SLC25A11, HGNC:HGNC:10981, HumanCyc Gene:HS03120, ModBase:Q02978, NCBI Gene:8402, OMIM:604165, RefSeq DNA:NT_010718, RefSeq Protein:NP_001158889, RefSeq Protein:NP_001158890, RefSeq Protein:NP_003553, RefSeq RNA:NM_001165417, RefSeq RNA:NM_001165418, RefSeq RNA:NM_003562, UCSC Genome Browser:NM_003562, UniProtKB:Q02978, UniProtKB:Q6IBH0 No chr17 4840425 4843462 4937130 4940167 +PA35858 8604 HGNC:10982 ENSG00000115840 solute carrier family 25 member 12 SLC25A12 """Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial"", ""aspartate/glutamate carrier 1"", ""solute carrier family 25 (aspartate/glutamate carrier), member 12""" AGC1, Aralar, aralar1 Yes No Comparative Toxicogenomics Database:8604, Ensembl:ENSG00000115840, GenAtlas:SLC25A12, GeneCard:SLC25A12, HGNC:HGNC:10982, HumanCyc Gene:HS03942, ModBase:O75746, NCBI Gene:8604, OMIM:603667, OMIM:612949, RefSeq DNA:NG_011781, RefSeq DNA:NT_005403, RefSeq Protein:NP_003696, RefSeq RNA:NM_003705, UCSC Genome Browser:NM_003705, UniProtKB:O75746 No chr2 172639915 172750816 171783405 171894306 +PA35859 10165 HGNC:10983 ENSG00000004864 solute carrier family 25 member 13 SLC25A13 """Calcium-binding mitochondrial carrier protein Aralar2"", ""citrullinemia type II"", ""mitochondrial aspartate glutamate carrier 2"", ""solute carrier family 25 (aspartate/glutamate carrier), member 13""" ARALAR2, CITRIN, CTLN2 Yes Yes Comparative Toxicogenomics Database:10165, Ensembl:ENSG00000004864, GenAtlas:SLC25A13, GeneCard:SLC25A13, HGNC:HGNC:10983, HumanCyc Gene:HS00115, ModBase:Q9UJS0, NCBI Gene:10165, OMIM:603471, OMIM:603859, OMIM:605814, RefSeq DNA:NG_012247, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001153682, RefSeq Protein:NP_055066, RefSeq RNA:NM_001160210, RefSeq RNA:NM_014251, RefSeq RNA:NR_027662, UCSC Genome Browser:NM_014251, UniProtKB:Q546F9, UniProtKB:Q9UJS0 No chr7 95749532 95951459 96120220 96322147 +PA35860 9016 HGNC:10984 ENSG00000102078 solute carrier family 25 member 14 SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14 BMCP1, UCP5 Yes Yes Comparative Toxicogenomics Database:9016, Ensembl:ENSG00000102078, GenAtlas:SLC25A14, GeneCard:SLC25A14, HGNC:HGNC:10984, HumanCyc Gene:HS02347, ModBase:O95258, NCBI Gene:9016, OMIM:300242, RefSeq DNA:NG_012850, RefSeq DNA:NT_011786, RefSeq Protein:NP_003942, RefSeq Protein:NP_073721, RefSeq RNA:NM_003951, RefSeq RNA:NM_022810, UCSC Genome Browser:NM_003951, UniProtKB:O95258 No chrX 129472689 129507335 130339888 130373361 +PA35861 10166 HGNC:10985 ENSG00000102743 solute carrier family 25 member 15 SLC25A15 Mitochondrial ornithine transporter 1, ornithine carrier 1, ornithine transporter 1, solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 D13S327, HHH, ORC1, ORNT1, lnc-HC Yes No Comparative Toxicogenomics Database:10166, Ensembl:ENSG00000102743, GenAtlas:SLC25A15, GeneCard:SLC25A15, HGNC:HGNC:10985, HumanCyc Gene:HS02406, ModBase:Q9Y619, NCBI Gene:10166, OMIM:238970, OMIM:603861, RefSeq DNA:NG_012248, RefSeq DNA:NT_024524, RefSeq Protein:NP_055067, RefSeq RNA:NM_014252, UCSC Genome Browser:NM_014252, UniProtKB:Q9Y619 No chr13 41363547 41386601 40789411 40812460 +PA35862 8034 HGNC:10986 ENSG00000122912 solute carrier family 25 member 16 SLC25A16 """Graves disease autoantigen"", ""solute carrier family 25 (mitochondrial carrier), member 16"", ""solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16""" D10S105E, GDA, HGT.1, ML7 Yes No Comparative Toxicogenomics Database:8034, Ensembl:ENSG00000122912, GenAtlas:SLC25A16, GeneCard:SLC25A16, HGNC:HGNC:10986, HumanCyc Gene:HS04614, ModBase:P16260, NCBI Gene:8034, OMIM:139080, RefSeq DNA:NT_030059, RefSeq Protein:NP_689920, RefSeq RNA:NM_152707, UCSC Genome Browser:NM_005673, UCSC Genome Browser:NM_152707, UniProtKB:P16260 No chr10 70242090 70287280 68479961 68527523 +PA35863 10478 HGNC:10987 ENSG00000100372 solute carrier family 25 member 17 SLC25A17 """peroxisomal membrane protein (34kD)"", ""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17""" PMP34 Yes No Ensembl:ENSG00000100372, GenAtlas:SLC25A17, GeneCard:SLC25A17, HGNC:HGNC:10987, HumanCyc Gene:HS02064, ModBase:O43808, NCBI Gene:10478, OMIM:606795, RefSeq DNA:NT_011520, RefSeq Protein:NP_006349, RefSeq RNA:NM_006358, UCSC Genome Browser:NM_006358, UniProtKB:O43808 No chr22 41165636 41215403 40769630 40819399 +PA35864 83733 HGNC:10988 ENSG00000182902 solute carrier family 25 member 18 SLC25A18 solute carrier family 25 (glutamate carrier), member 18 Yes No Ensembl:ENSG00000182902, GenAtlas:SLC25A18, GeneCard:SLC25A18, HGNC:HGNC:10988, ModBase:Q9H1K4, NCBI Gene:83733, OMIM:609303, RefSeq DNA:NT_011519, RefSeq Protein:NP_113669, RefSeq RNA:NM_031481, UCSC Genome Browser:NM_031481, UniProtKB:Q9H1K4 No chr22 18043030 18073651 17562470 17590890 +PA37879 60386 HGNC:14409 ENSG00000125454 solute carrier family 25 member 19 SLC25A19 """Deoxynucleotide carrier"", ""Mitochondrial thiamine pyrophosphate carrier"", ""mitochondrial uncoupling protein 1"", ""solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19""" DNC, MCPHA, MUP1, TPC Yes No Comparative Toxicogenomics Database:60386, Ensembl:ENSG00000125454, GenAtlas:SLC25A19, GeneCard:SLC25A19, HGNC:HGNC:14409, HumanCyc Gene:HS04889, ModBase:Q9HC21, NCBI Gene:60386, OMIM:606521, OMIM:607196, RefSeq DNA:NG_008274, RefSeq DNA:NT_010783, RefSeq Protein:NP_001119593, RefSeq Protein:NP_001119594, RefSeq Protein:NP_068380, RefSeq RNA:NM_001126121, RefSeq RNA:NM_001126122, RefSeq RNA:NM_021734, UCSC Genome Browser:NM_021734, UniProtKB:Q5JPC1, UniProtKB:Q9HC21 No chr17 73269061 73285530 75272980 75289957 +PA134910073 83884 HGNC:22921 ENSG00000120329 solute carrier family 25 member 2 SLC25A2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 ORNT2 Yes No Ensembl:ENSG00000120329, GeneCard:SLC25A2, HGNC:HGNC:22921, HumanCyc Gene:HS04394, ModBase:Q9BXI2, NCBI Gene:83884, OMIM:608157, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_114153, RefSeq RNA:NM_031947, UniProtKB:Q9BXI2 No chr5 140682196 140683612 141302629 141304063 +PA35031 788 HGNC:1421 ENSG00000178537 solute carrier family 25 member 20 SLC25A20 """Mitochondrial carnitine/acylcarnitine carrier protein"", ""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"", ""solute carrier family 25 (carnitine/acylcarnitine translocase), member 20""" CAC, CACT Yes No Comparative Toxicogenomics Database:788, Ensembl:ENSG00000178537, GenAtlas:SLC25A20, GeneCard:SLC25A20, HGNC:HGNC:1421, HumanCyc Gene:HS11293, ModBase:O43772, NCBI Gene:788, OMIM:212138, RefSeq DNA:NG_008171, RefSeq DNA:NT_022517, RefSeq Protein:NP_000378, RefSeq RNA:NM_000387, UCSC Genome Browser:NM_000387, UniProtKB:O43772 No chr3 48894356 48936426 48856923 48898993 +PA35032 789 HGNC:1422 ENSG00000218363 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene 1 SLC25A20P1 Yes No Ensembl:ENSG00000218363, GenAtlas:SLC25A20P, GeneCard:SLC25A20P1, HGNC:HGNC:1422, NCBI Gene:789, RefSeq DNA:NG_001087, RefSeq DNA:NT_007592 No chr6 52111169 52112902 52246371 52248104 +PA37880 89874 HGNC:14411 ENSG00000183032 solute carrier family 25 member 21 SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 ODC, ODC1 Yes No Ensembl:ENSG00000183032, GenAtlas:SLC25A21, GeneCard:SLC25A21, HGNC:HGNC:14411, ModBase:Q9BQT8, NCBI Gene:89874, OMIM:607571, RefSeq DNA:NT_026437, RefSeq Protein:NP_001164641, RefSeq Protein:NP_085134, RefSeq RNA:NM_001171170, RefSeq RNA:NM_030631, UCSC Genome Browser:NM_030631, UniProtKB:A8K0L0, UniProtKB:Q9BQT8 No chr14 37147126 37641865 36677921 37172660 +PA134955826 79751 HGNC:19954 ENSG00000177542 solute carrier family 25 member 22 SLC25A22 """Early infantile epileptic encephalopathy 3"", ""solute carrier family 25 (mitochondrial carrier: glutamate), member 22""" EIEE3, FLJ13044, GC-1, GC1, NET44 Yes No Comparative Toxicogenomics Database:79751, Ensembl:ENSG00000177542, GeneCard:SLC25A22, HGNC:HGNC:19954, HumanCyc Gene:HS11182, ModBase:Q9H936, NCBI Gene:79751, OMIM:609302, OMIM:609304, RefSeq DNA:NG_023407, RefSeq DNA:NT_009237, RefSeq Protein:NP_001177989, RefSeq Protein:NP_001177990, RefSeq Protein:NP_078974, RefSeq RNA:NM_001191060, RefSeq RNA:NM_001191061, RefSeq RNA:NM_024698, UniProtKB:Q9H936 No chr11 790475 798269 790475 798269 +PA134932456 79085 HGNC:19375 ENSG00000125648 solute carrier family 25 member 23 SLC25A23 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 APC2, FLJ30339, MGC2615 Yes No Comparative Toxicogenomics Database:79085, Ensembl:ENSG00000125648, GeneCard:SLC25A23, HGNC:HGNC:19375, HumanCyc Gene:HS04908, ModBase:Q9BV35, NCBI Gene:79085, OMIM:608746, RefSeq DNA:NT_011255, RefSeq Protein:NP_077008, RefSeq RNA:NM_024103, UniProtKB:Q9BV35 No chr19 6436092 6460232 6436081 6460221 +PA134978257 29957 HGNC:20662 ENSG00000085491 solute carrier family 25 member 24 SLC25A24 """ATP-Mg/P(i) co-transporter 1"", ""Calcium-binding mitochondrial carrier protein SCaMC-1"", ""small calcium-binding mitochondrial carrier protein 1"", ""solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24""" APC1, DKFZp586G0123, SCAMC-1, SCAMC1 Yes No Comparative Toxicogenomics Database:29957, Ensembl:ENSG00000085491, GeneCard:SLC25A24, HGNC:HGNC:20662, ModBase:Q6NUK1, NCBI Gene:29957, OMIM:608744, RefSeq DNA:NT_032977, RefSeq Protein:NP_037518, RefSeq Protein:NP_998816, RefSeq RNA:NM_013386, RefSeq RNA:NM_213651, UniProtKB:Q6NUK1 No chr1 108677344 108742980 108134722 108200358 +PA134952319 114789 HGNC:20663 ENSG00000148339 solute carrier family 25 member 25 SLC25A25 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 KIAA1896, MCSC, PCSCL Yes No Comparative Toxicogenomics Database:114789, Ensembl:ENSG00000148339, GeneCard:SLC25A25, HGNC:HGNC:20663, ModBase:Q6KCM6, NCBI Gene:114789, OMIM:608745, RefSeq DNA:NT_008470, RefSeq Protein:NP_001006642, RefSeq Protein:NP_001006643, RefSeq Protein:NP_001006644, RefSeq Protein:NP_443133, RefSeq RNA:NM_001006641, RefSeq RNA:NM_001006642, RefSeq RNA:NM_001006643, RefSeq RNA:NM_052901, UniProtKB:Q6KCM7 No chr9 130830479 130871537 128068200 128109258 +PA134987831 115286 HGNC:20661 ENSG00000144741 solute carrier family 25 member 26 SLC25A26 """S-adenosylmethionine mitochondrial carrier protein"", ""solute carrier family 25 (S-adenosylmethionine carrier), member 26""" SAMC Yes No Ensembl:ENSG00000144741, GeneCard:SLC25A26, HGNC:HGNC:20661, HumanCyc Gene:HS07199, ModBase:Q70HW3, NCBI Gene:115286, OMIM:611037, RefSeq DNA:NT_022459, RefSeq Protein:NP_001158268, RefSeq Protein:NP_775742, RefSeq RNA:NM_001164796, RefSeq RNA:NM_173471, RefSeq RNA:NR_028475, UniProtKB:Q70HW3 No chr3 2820 59169 66133610 66380021 +PA134970102 9481 HGNC:21065 ENSG00000153291 solute carrier family 25 member 27 SLC25A27 solute carrier family 25, member 27 FLJ33552, UCP4 Yes Yes Comparative Toxicogenomics Database:9481, Ensembl:ENSG00000153291, GeneCard:SLC25A27, HGNC:HGNC:21065, HumanCyc Gene:HS07901, ModBase:O95847, NCBI Gene:9481, RefSeq DNA:NT_007592, RefSeq Protein:NP_001190980, RefSeq Protein:NP_001190981, RefSeq Protein:NP_004268, RefSeq RNA:NM_001204051, RefSeq RNA:NM_001204052, RefSeq RNA:NM_004277, UniProtKB:O95847, UniProtKB:Q5VTS9, UniProtKB:Q8N518 No chr6 46620652 46645927 46652915 46678190 +PA134867966 81894 HGNC:23472 ENSG00000155287 solute carrier family 25 member 28 SLC25A28 """mitoferrin 2"", ""solute carrier family 25 (mitochondrial iron transporter), member 28""" MRS3/4, MRS4L Yes No Ensembl:ENSG00000155287, GeneCard:SLC25A28, HGNC:HGNC:23472, HumanCyc Gene:HS08039, ModBase:Q96A46, NCBI Gene:81894, OMIM:609767, RefSeq DNA:NT_030059, RefSeq Protein:NP_112489, RefSeq RNA:NM_031212, UniProtKB:Q96A46 No chr10 101370275 101419039 99610518 99659329 +PA134980581 123096 HGNC:20116 ENSG00000197119 solute carrier family 25 member 29 SLC25A29 solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29 C14orf69, FLJ38975 Yes No Comparative Toxicogenomics Database:123096, Ensembl:ENSG00000197119, GeneCard:SLC25A29, HGNC:HGNC:20116, ModBase:Q8N8R3, NCBI Gene:123096, RefSeq DNA:NT_026437, RefSeq Protein:NP_001034444, RefSeq RNA:NM_001039355, UniProtKB:Q8N8R3 No chr14 100745514 100772884 100277986 100306547 +PA35865 5250 HGNC:10989 ENSG00000075415 solute carrier family 25 member 3 SLC25A3 """Phosphate carrier protein, mitochondrial"", ""phosphate transport protein"", ""solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3""" PHC, PTP, PiC Yes No Comparative Toxicogenomics Database:5250, Ensembl:ENSG00000075415, GenAtlas:SLC25A3, GeneCard:SLC25A3, HGNC:HGNC:10989, HumanCyc Gene:HS01178, ModBase:Q00325, NCBI Gene:5250, OMIM:600370, OMIM:610773, RefSeq DNA:NG_011702, RefSeq DNA:NT_029419, RefSeq Protein:NP_002626, RefSeq Protein:NP_005879, RefSeq Protein:NP_998776, RefSeq RNA:NM_002635, RefSeq RNA:NM_005888, RefSeq RNA:NM_213611, UCSC Genome Browser:NM_002635, UniProtKB:Q00325, UniProtKB:Q6MZF9 No chr12 98987403 98995778 98593625 98602000 +PA134931353 253512 HGNC:27371 ENSG00000174032 solute carrier family 25 member 30 SLC25A30 solute carrier family 25, member 30 Yes No Comparative Toxicogenomics Database:253512, Ensembl:ENSG00000174032, GeneCard:SLC25A30, HGNC:HGNC:27371, ModBase:Q5SVS4, NCBI Gene:253512, OMIM:610793, RefSeq DNA:NT_024524, RefSeq Protein:NP_001010875, RefSeq RNA:NM_001010875, UniProtKB:Q5SVS4 No chr13 45960520 45992549 45393316 45434016 +PA142670904 83447 HGNC:25319 ENSG00000151475 solute carrier family 25 member 31 SLC25A31 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 ANT4, DKFZP434N1235 Yes Yes Ensembl:ENSG00000151475, GeneCard:SLC25A31, HGNC:HGNC:25319, HumanCyc Gene:HS07739, ModBase:Q9H0C2, NCBI Gene:83447, OMIM:610796, RefSeq DNA:NT_016354, RefSeq Protein:NP_112581, RefSeq RNA:NM_031291, UniProtKB:Q9H0C2 No chr4 128651555 128695447 127730375 127774299 +PA142670905 81034 HGNC:29683 ENSG00000164933 solute carrier family 25 member 32 SLC25A32 solute carrier family 25 (mitochondrial folate carrier), member 32 MFTC Yes No Comparative Toxicogenomics Database:81034, Ensembl:ENSG00000164933, GeneCard:SLC25A32, HGNC:HGNC:29683, HumanCyc Gene:HS09162, ModBase:Q9H2D1, NCBI Gene:81034, OMIM:610815, RefSeq DNA:NT_008046, RefSeq Protein:NP_110407, RefSeq RNA:NM_030780, UniProtKB:Q9H2D1 No chr8 104410866 104427563 103398638 103415335 +PA162403588 84275 HGNC:29681 ENSG00000171612 solute carrier family 25 member 33 SLC25A33 solute carrier family 25 (pyrimidine nucleotide carrier), member 33 BMSC-MCP, MGC4399, PNC1 Yes No Ensembl:ENSG00000171612, GeneCard:SLC25A33, HGNC:HGNC:29681, ModBase:Q9BSK2, NCBI Gene:84275, OMIM:610816, RefSeq DNA:NT_021937, RefSeq Protein:NP_115691, RefSeq RNA:NM_032315, UniProtKB:Q9BSK2 No chr1 9599528 9642831 9539469 9582773 +PA142670906 284723 HGNC:27653 ENSG00000162461 solute carrier family 25 member 34 SLC25A34 solute carrier family 25, member 34 DKFZp781A10161 Yes No Comparative Toxicogenomics Database:284723, Ensembl:ENSG00000162461, GeneCard:SLC25A34, HGNC:HGNC:27653, ModBase:Q6PIV7, NCBI Gene:284723, OMIM:610817, RefSeq DNA:NT_004610, RefSeq Protein:NP_997231, RefSeq RNA:NM_207348, UniProtKB:Q6PIV7 No chr1 16062721 16067884 15735088 15741392 +PA142670907 399512 HGNC:31921 ENSG00000125434 solute carrier family 25 member 35 SLC25A35 solute carrier family 25, member 35 FLJ40217 Yes No Ensembl:ENSG00000125434, GeneCard:SLC25A35, HGNC:HGNC:31921, ModBase:Q3KQZ1, NCBI Gene:399512, OMIM:610818, RefSeq DNA:NT_010718, RefSeq Protein:NP_958928, RefSeq RNA:NM_201520, UniProtKB:Q3KQZ1 No chr17 8191082 8198709 8287763 8295694 +PA142670908 55186 HGNC:25554 ENSG00000114120 solute carrier family 25 member 36 SLC25A36 solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 FLJ10618, PNC2 Yes No Comparative Toxicogenomics Database:55186, Ensembl:ENSG00000114120, GeneCard:SLC25A36, HGNC:HGNC:25554, HumanCyc Gene:HS03741, ModBase:Q96CQ1, NCBI Gene:55186, RefSeq DNA:NT_005612, RefSeq Protein:NP_001098117, RefSeq Protein:NP_060625, RefSeq RNA:NM_001104647, RefSeq RNA:NM_018155, UniProtKB:Q96CQ1 No chr3 140660662 140698785 140941820 140979943 +PA142670909 51312 HGNC:29786 ENSG00000147454 solute carrier family 25 member 37 SLC25A37 """Mitochondrial iron transporter 1"", ""Mitochondrial solute carrier protein"", ""Mitoferrin-1"", ""mitoferrin"", ""solute carrier family 25 (mitochondrial iron transporter), member 37""" HT015, MFRN, MFRN1, MSCP Yes No Comparative Toxicogenomics Database:51312, Ensembl:ENSG00000147454, GeneCard:SLC25A37, HGNC:HGNC:29786, HumanCyc Gene:HS07436, ModBase:Q9NYZ2, NCBI Gene:51312, OMIM:610387, RefSeq DNA:NT_167187, RefSeq Protein:NP_057696, RefSeq RNA:NM_016612, UniProtKB:Q9NYZ2 No chr8 23386363 23432976 23528795 23575463 +PA162403607 54977 HGNC:26054 ENSG00000144659 solute carrier family 25 member 38 SLC25A38 """Mitochondrial glycine transporter"", ""solute carrier family 25, member 38""" FLJ20551 Yes No Ensembl:ENSG00000144659, GeneCard:SLC25A38, HGNC:HGNC:26054, HumanCyc Gene:HS07189, ModBase:Q96DW6, NCBI Gene:54977, OMIM:205950, OMIM:610819, RefSeq DNA:NG_016931, RefSeq DNA:NT_022517, RefSeq Protein:NP_060345, RefSeq RNA:NM_017875, UniProtKB:Q96DW6 No chr3 39424815 39438819 39383324 39397328 +PA162403626 51629 HGNC:24279 ENSG00000013306 solute carrier family 25 member 39 SLC25A39 solute carrier family 25, member 39 CGI-69, FLJ22407 Yes No Ensembl:ENSG00000013306, GeneCard:SLC25A39, HGNC:HGNC:24279, HumanCyc Gene:HS00344, ModBase:Q9BZJ4, NCBI Gene:51629, OMIM:610820, RefSeq DNA:NT_010783, RefSeq Protein:NP_001137252, RefSeq Protein:NP_057100, RefSeq RNA:NM_001143780, RefSeq RNA:NM_016016, UniProtKB:Q9BZJ4 No chr17 42396993 42402217 44319625 44324870 +PA35866 291 HGNC:10990 ENSG00000151729 solute carrier family 25 member 4 SLC25A4 """ADP/ATP carrier 1"", ""ADP/ATP translocase 1"", ""solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4""" AAC1, ANT1, PEO2, PEO3, T1 Yes No Comparative Toxicogenomics Database:291, Ensembl:ENSG00000151729, GenAtlas:SLC25A4, GeneCard:SLC25A4, HGNC:HGNC:10990, HumanCyc Gene:HS07767, ModBase:P12235, NCBI Gene:291, OMIM:103220, OMIM:157640, OMIM:192600, OMIM:609283, RefSeq DNA:NG_013001, RefSeq DNA:NT_016354, RefSeq Protein:NP_001142, RefSeq RNA:NM_001151, UCSC Genome Browser:NM_001151, UniProtKB:P12235 No chr4 186064417 186071538 185143263 185150384 +PA162403655 55972 HGNC:29680 ENSG00000075303 solute carrier family 25 member 40 SLC25A40 solute carrier family 25, member 40 MCFP Yes No Ensembl:ENSG00000075303, GeneCard:SLC25A40, HGNC:HGNC:29680, HumanCyc Gene:HS01171, ModBase:Q8TBP6, NCBI Gene:55972, OMIM:610821, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_061331, RefSeq RNA:NM_018843, UniProtKB:Q8TBP6 No chr7 87462885 87505692 87834499 87876377 +PA162403684 284427 HGNC:28533 ENSG00000181240 solute carrier family 25 member 41 SLC25A41 solute carrier family 25, member 41 APC4, FLJ40442, MGC34725 Yes No Ensembl:ENSG00000181240, GeneCard:SLC25A41, HGNC:HGNC:28533, HumanCyc Gene:HS11595, ModBase:Q8N5S1, NCBI Gene:284427, OMIM:610822, RefSeq DNA:NT_011255, RefSeq Protein:NP_775908, RefSeq RNA:NM_173637, UniProtKB:Q8N5S1 No chr19 6426048 6433790 6426037 6436267 +PA162403703 284439 HGNC:28380 ENSG00000181035 solute carrier family 25 member 42 SLC25A42 """Mitochondrial coenzyme A transporter"", ""solute carrier family 25, member 42""" MGC26694 Yes No Ensembl:ENSG00000181035, GeneCard:SLC25A42, HGNC:HGNC:28380, ModBase:Q86VD7, NCBI Gene:284439, OMIM:610823, RefSeq DNA:NT_011295, RefSeq Protein:NP_848621, RefSeq RNA:NM_178526, UniProtKB:Q86VD7 No chr19 19174776 19223839 19063961 19113030 +PA162403704 203427 HGNC:30557 ENSG00000077713 solute carrier family 25 member 43 SLC25A43 solute carrier family 25, member 43 Yes No Ensembl:ENSG00000077713, GeneCard:SLC25A43, HGNC:HGNC:30557, HumanCyc Gene:HS01255, ModBase:Q8WUT9, NCBI Gene:203427, OMIM:300641, RefSeq DNA:NG_016298, RefSeq DNA:NT_011786, RefSeq Protein:NP_660348, RefSeq RNA:NM_145305, UniProtKB:Q8WUT9 No chrX 118533258 118588441 119399295 119454478 +PA162403705 9673 HGNC:29036 ENSG00000160785 solute carrier family 25 member 44 SLC25A44 solute carrier family 25, member 44 FLJ90431, KIAA0446 Yes No Ensembl:ENSG00000160785, GeneCard:SLC25A44, HGNC:HGNC:29036, ModBase:Q96H78, NCBI Gene:9673, OMIM:610824, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129144, RefSeq Protein:NP_055470, RefSeq RNA:NM_001135672, RefSeq RNA:NM_014655, UniProtKB:Q96H78 No chr1 156163728 156182587 156193711 156212796 +PA162403718 283130 HGNC:27442 ENSG00000162241 solute carrier family 25 member 45 SLC25A45 solute carrier family 25, member 45 Yes No Ensembl:ENSG00000162241, GeneCard:SLC25A45, HGNC:HGNC:27442, ModBase:Q8N413, NCBI Gene:283130, OMIM:610825, RefSeq DNA:NT_167190, RefSeq Protein:NP_001070709, RefSeq Protein:NP_872362, RefSeq RNA:NM_001077241, RefSeq RNA:NM_182556, UniProtKB:Q8N413 No chr11 65142663 65151172 65375192 65383701 +PA162403737 91137 HGNC:25198 ENSG00000164209 solute carrier family 25 member 46 SLC25A46 """Mitochondrial outer membrane protein"", ""solute carrier family 25, member 46""" Yes No Ensembl:ENSG00000164209, GeneCard:SLC25A46, HGNC:HGNC:25198, HumanCyc Gene:HS09038, ModBase:Q96AG3, NCBI Gene:91137, OMIM:610826, RefSeq DNA:NT_034772, RefSeq Protein:NP_620128, RefSeq RNA:NM_138773, UniProtKB:Q96AG3 No chr5 110073837 110100857 110738136 110765161 +PA165479287 283600 HGNC:20115 ENSG00000140107 solute carrier family 25 member 47 SLC25A47 """HCC down-regulated mitochondrial carrier protein"", ""solute carrier family 25, member 47""" C14orf68, HDCMP Yes No Ensembl:ENSG00000140107, GeneCard:SLC25A47, HGNC:HGNC:20115, ModBase:Q6Q0C1, NCBI Gene:283600, OMIM:609911, RefSeq DNA:NT_026437, RefSeq Protein:NP_997000, RefSeq RNA:NM_207117, UniProtKB:B2RP39, UniProtKB:Q6Q0C1 No chr14 100789679 100796715 100323342 100330378 +PA165660536 153328 HGNC:30451 ENSG00000145832 solute carrier family 25 member 48 SLC25A48 """HCC-down-regulated mitochondrial carrier protein"", ""solute carrier family 25, member 48""" FLJ44862, HDMCP Yes No Ensembl:ENSG00000145832, GeneCard:SLC25A48, HGNC:HGNC:30451, NCBI Gene:153328, RefSeq DNA:NT_034772, RefSeq Protein:NP_660325, RefSeq RNA:NM_145282, UniProtKB:Q6ZT89 No chr5 135170365 135224326 135579002 135888637 +PA35867 292 HGNC:10991 ENSG00000005022 solute carrier family 25 member 5 SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 2F1, ANT2, T2, T3 Yes No Comparative Toxicogenomics Database:292, Ensembl:ENSG00000005022, GenAtlas:SLC25A5, GeneCard:SLC25A5, HGNC:HGNC:10991, HumanCyc Gene:HS00125, ModBase:P05141, NCBI Gene:292, OMIM:300150, RefSeq DNA:NG_013262, RefSeq DNA:NT_011786, RefSeq Protein:NP_001143, RefSeq RNA:NM_001152, UCSC Genome Browser:NM_001152, UniProtKB:P05141, UniProtKB:Q6NVC0 No chrX 118602363 118605359 119468400 119471396 +PA134888553 92014 HGNC:23323 ENSG00000122696 solute carrier family 25 member 51 SLC25A51 """mitochondrial NAD+ transporter"", ""solute carrier family 25, member 51""" CG7943, MCART1, MGC14836 Yes No Ensembl:ENSG00000122696, GeneCard:MCART1, HGNC:HGNC:23323, HumanCyc Gene:HS04592, ModBase:Q9H1U9, NCBI Gene:92014, RefSeq DNA:NT_008413, RefSeq Protein:NP_219480, RefSeq RNA:NM_033412, RefSeq RNA:NR_024872, RefSeq RNA:NR_024873, UniProtKB:Q9H1U9 No chr9 37877572 37904350 37877575 37904353 +PA134993650 442229 HGNC:23325 ENSG00000220483 solute carrier family 25, member 51 pseudogene 1 SLC25A51P1 bA707M13.1 Yes No Ensembl:ENSG00000220483, GeneCard:SLC25A51P1, HGNC:HGNC:23325, NCBI Gene:442229, RefSeq DNA:NT_007299, RefSeq RNA:NR_026540 No chr6 66497772 66499376 65787879 65789483 +PA134948387 645423 HGNC:23327 ENSG00000263716 solute carrier family 25, member 51 pseudogene 2 SLC25A51P2 Yes No Ensembl:ENSG00000263716, GeneCard:SLC25A51P2, HGNC:HGNC:23327, NCBI Gene:645423, RefSeq DNA:NG_009212, RefSeq DNA:NT_010859 No chr18 7134119 7135880 7134120 7135881 +PA134897022 100128119 HGNC:31051 ENSG00000254181 solute carrier family 25, member 51 pseudogene 3 SLC25A51P3 Yes No Ensembl:ENSG00000254181, GeneCard:SLC25A51P3, HGNC:HGNC:31051, NCBI Gene:100128119, RefSeq DNA:NG_009213, RefSeq DNA:NT_008183 No chr8 81506985 81508103 80594750 80595868 +PA134957999 147407 HGNC:23324 ENSG00000141437 solute carrier family 25 member 52 SLC25A52 solute carrier family 25, member 52 MCART2 Yes No Ensembl:ENSG00000141437, GeneCard:MCART2, HGNC:HGNC:23324, NCBI Gene:147407, RefSeq DNA:NT_010966, RefSeq Protein:NP_001029344, RefSeq RNA:NM_001034172 No chr18 29339659 29340843 31759696 31760880 +PA142671476 401612 HGNC:31894 ENSG00000269743 solute carrier family 25 member 53 SLC25A53 solute carrier family 25, member 53 MCART6 Yes No Comparative Toxicogenomics Database:401612, Ensembl:ENSG00000269743, GeneCard:MCART6, HGNC:HGNC:31894, ModBase:Q5H9E4, NCBI Gene:401612, RefSeq DNA:NT_011651, RefSeq Protein:NP_001012773, RefSeq RNA:NM_001012755, UniProtKB:Q5H9E4 No chrX 103343898 103401708 104099214 104157027 +PA134909777 266623 HGNC:19250 ENSG00000215347 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 1 SLC25A5P1 bK250D10.4 Yes No Ensembl:ENSG00000215347, GeneCard:SLC25A5P1, HGNC:HGNC:19250, NCBI Gene:266623, RefSeq DNA:NG_009276, RefSeq DNA:NT_011520, RefSeq RNA:XR_078579 No chr22 42396437 42398037 42000433 42002033 +PA24816 222005 HGNC:507 adenine nucleotide translocator pseudogene 1 (clone 29) SLC25A5P3 Yes No GenAtlas:ANTP1, GeneCard:ANTP1, HGNC:HGNC:507, NCBI Gene:222005 No chr7 54487064 54488293 54419371 54420600 +PA24820 442525 HGNC:511 adenine nucleotide translocator pseudogene 5 (clone 19) SLC25A5P5 Yes No GenAtlas:ANTP5, GeneCard:ANTP5, HGNC:HGNC:511, NCBI Gene:442525 No chr7 32511041 32512613 32471429 32473001 +PA24821 644042 HGNC:512 adenine nucleotide translocator pseudogene 6 (clone 3) SLC25A5P6 Yes No GenAtlas:ANTP6, GeneCard:ANTP6, HGNC:HGNC:512, NCBI Gene:644042 No chr4 187249609 187250834 186328455 186329680 +PA24822 442255 HGNC:513 adenine nucleotide translocator pseudogene 7 (clone 2) SLC25A5P7 Yes No GenAtlas:ANTP7, GeneCard:ANTP7, HGNC:HGNC:513, NCBI Gene:442255 No chr6 121974885 121976094 121653739 121654948 +PA35868 293 HGNC:10992 ENSG00000169100 solute carrier family 25 member 6 SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 ANT3, ANT3Y, MGC17525 Yes No Comparative Toxicogenomics Database:293, Ensembl:ENSG00000169100, GenAtlas:SLC25A6, GeneCard:SLC25A6, HGNC:HGNC:10992, HumanCyc Gene:HS09882, ModBase:P12236, NCBI Gene:293, OMIM:300151, OMIM:403000, RefSeq DNA:NG_013263, RefSeq DNA:NT_167196, RefSeq DNA:NT_167204, RefSeq Protein:NP_001627, RefSeq RNA:NM_001636, UCSC Genome Browser:NM_001636, UniProtKB:P12236, UniProtKB:Q6I9V5 No chrX 1505045 1511039 1386152 1392146 +PA38163 128790 HGNC:16554 ENSG00000233015 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1 SLC25A6P1 dJ1065O2.2 Yes No Ensembl:ENSG00000233015, GenAtlas:SLC25A6P1, GeneCard:SLC25A6P1, HGNC:HGNC:16554, NCBI Gene:128790, RefSeq DNA:NG_003107, RefSeq DNA:NT_011387 No chr20 21722990 21723714 21742352 21743076 +PA400 10861 HGNC:10993 ENSG00000145217 solute carrier family 26 member 1 SLC26A1 """solute carrier family 26 (anion exchanger), member 1"", ""solute carrier family 26 (sulfate transporter), member 1""" EDM4, SAT-1 Yes No Comparative Toxicogenomics Database:10861, Ensembl:ENSG00000145217, GenAtlas:SLC26A1, GeneCard:SLC26A1, HGNC:HGNC:10993, HumanCyc Gene:HS07235, ModBase:Q9H2B4, NCBI Gene:10861, OMIM:610130, RefSeq DNA:NT_037622, RefSeq Protein:NP_071325, RefSeq Protein:NP_602297, RefSeq Protein:NP_998778, RefSeq RNA:NM_022042, RefSeq RNA:NM_134425, RefSeq RNA:NM_213613, UCSC Genome Browser:NM_022042, UniProtKB:Q96BK0, UniProtKB:Q9H2B4 No chr4 972861 987228 979073 993440 +PA37887 65012 HGNC:14470 ENSG00000135502 solute carrier family 26 member 10 SLC26A10 solute carrier family 26, member 10 Yes No Comparative Toxicogenomics Database:65012, Ensembl:ENSG00000135502, GenAtlas:SLC26A10, GeneCard:SLC26A10, HGNC:HGNC:14470, HumanCyc Gene:HS06020, ModBase:Q8NG04, NCBI Gene:65012, RefSeq DNA:NT_029419, RefSeq Protein:NP_597996, RefSeq RNA:NM_133489, UCSC Genome Browser:NM_133489, UniProtKB:Q8NG04 No chr12 58013693 58019934 57619910 57626151 +PA37888 284129 HGNC:14471 ENSG00000181045 solute carrier family 26 member 11 SLC26A11 """solute carrier family 26 (anion exchanger), member 11"", ""solute carrier family 26, member 11""" Yes No Comparative Toxicogenomics Database:284129, Ensembl:ENSG00000181045, GenAtlas:SLC26A11, GeneCard:SLC26A11, HGNC:HGNC:14471, HumanCyc Gene:HS11570, ModBase:Q86WA9, NCBI Gene:284129, OMIM:610117, RefSeq DNA:NT_010783, RefSeq Protein:NP_001159819, RefSeq Protein:NP_001159820, RefSeq Protein:NP_001159821, RefSeq Protein:NP_775897, RefSeq RNA:NM_001166347, RefSeq RNA:NM_001166348, RefSeq RNA:NM_001166349, RefSeq RNA:NM_173626, UCSC Genome Browser:NM_173626, UniProtKB:B2RCI7, UniProtKB:Q86WA9 No chr17 78194200 78227308 80220287 80253509 +PA149 1836 HGNC:10994 ENSG00000155850 solute carrier family 26 member 2 SLC26A2 """diastrophic dysplasia sulfate transporter"", ""solute carrier family 26 (anion exchanger), member 2"", ""solute carrier family 26 (sulfate transporter), member 2""" DTD, DTDST Yes No Comparative Toxicogenomics Database:1836, Ensembl:ENSG00000155850, GenAtlas:SLC26A2, GeneCard:SLC26A2, HGNC:HGNC:10994, HumanCyc Gene:HS08071, ModBase:P50443, NCBI Gene:1836, OMIM:222600, OMIM:226900, OMIM:256050, OMIM:600972, OMIM:606718, RefSeq DNA:NG_007147, RefSeq DNA:NT_029289, RefSeq Protein:NP_000103, RefSeq RNA:NM_000112, UCSC Genome Browser:NM_000112, UniProtKB:P50443 No chr5 149340300 149366963 149960729 149987400 +PA35044 1811 HGNC:3018 ENSG00000091138 solute carrier family 26 member 3 SLC26A3 """Chloride anion exchanger"", ""solute carrier family 26 (anion exchanger), member 3"", ""solute carrier family 26, member 3""" CLD, DRA Yes No Ensembl:ENSG00000091138, GenAtlas:SLC26A3, GeneCard:SLC26A3, HGNC:HGNC:3018, HumanCyc Gene:HS01726, ModBase:P40879, NCBI Gene:1811, OMIM:126650, RefSeq DNA:NG_008046, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_000102, RefSeq RNA:NM_000111, UCSC Genome Browser:NM_000111, UniProtKB:P40879 No chr7 107405912 107443678 107765467 107803233 +PA35506 5172 HGNC:8818 ENSG00000091137 solute carrier family 26 member 4 SLC26A4 """Pendred syndrome"", ""pendrin"", ""solute carrier family 26 (anion exchanger), member 4"", ""solute carrier family 26, member 4""" DFNB4, PDS Yes No Comparative Toxicogenomics Database:5172, Ensembl:ENSG00000091137, GenAtlas:SLC26A4, GeneCard:SLC26A4, HGNC:HGNC:8818, HumanCyc Gene:HS01725, ModBase:O43511, NCBI Gene:5172, OMIM:274600, OMIM:600791, OMIM:605646, RefSeq DNA:NG_008489, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_000432, RefSeq RNA:NM_000441, UCSC Genome Browser:NM_000441, UniProtKB:O43511 No chr7 107301080 107358254 107660635 107717809 +PA33731 375611 HGNC:9359 ENSG00000170615 solute carrier family 26 member 5 SLC26A5 """deafness, neurosensory, autosomal recessive, 61"", ""solute carrier family 26 (anion exchanger), member 5"", ""solute carrier family 26, member 5 (prestin)""" DFNB61, PRES, PRESTIN Yes No Comparative Toxicogenomics Database:375611, Ensembl:ENSG00000170615, GenAtlas:SLC26A5, GeneCard:SLC26A5, HGNC:HGNC:9359, ModBase:P58743, NCBI Gene:375611, OMIM:604943, RefSeq DNA:NG_023055, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001161434, RefSeq Protein:NP_945350, RefSeq Protein:NP_996766, RefSeq Protein:NP_996767, RefSeq Protein:NP_996768, RefSeq RNA:NM_001167962, RefSeq RNA:NM_198999, RefSeq RNA:NM_206883, RefSeq RNA:NM_206884, RefSeq RNA:NM_206885, UniProtKB:P58743, UniProtKB:Q496J2 No chr7 102993177 103086624 103352598 103446177 +PA37889 65010 HGNC:14472 ENSG00000225697 solute carrier family 26 member 6 SLC26A6 """anion transporter 1"", ""pendrin L1"", ""pendrin-like protein 1"", ""solute carrier family 26 (anion exchanger), member 6"", ""solute carrier family 26, member 6"", ""sulfate anion transporter""" DKFZp586E1422 Yes No Ensembl:ENSG00000225697, GenAtlas:SLC26A6, GeneCard:SLC26A6, HGNC:HGNC:14472, ModBase:Q9BXS9, NCBI Gene:65010, OMIM:610068, RefSeq DNA:NT_022517, RefSeq Protein:NP_001035544, RefSeq Protein:NP_075062, RefSeq Protein:NP_599025, RefSeq Protein:NP_602298, RefSeq RNA:NM_001040454, RefSeq RNA:NM_022911, RefSeq RNA:NM_134263, RefSeq RNA:NM_134426, UCSC Genome Browser:NM_022911, UniProtKB:Q548A7, UniProtKB:Q9BXS9, UniProtKB:Q9NQU1, UniProtKB:Q9Y3Y1 No chr3 48663156 48672926 48625723 48635493 +PA37884 115111 HGNC:14467 ENSG00000147606 solute carrier family 26 member 7 SLC26A7 """Anion exchange transporter"", ""solute carrier family 26 (anion exchanger), member 7"", ""solute carrier family 26, member 7"", ""sulfate anion transporter 2""" SUT2 Yes No Ensembl:ENSG00000147606, GenAtlas:SLC26A7, GeneCard:SLC26A7, HGNC:HGNC:14467, HumanCyc Gene:HS07456, ModBase:Q8TE54, NCBI Gene:115111, OMIM:608479, RefSeq DNA:NT_008046, RefSeq Protein:NP_439897, RefSeq Protein:NP_599028, RefSeq RNA:NM_052832, RefSeq RNA:NM_134266, UCSC Genome Browser:NM_052832, UniProtKB:Q8TE54 No chr8 92261508 92410378 91209494 91398155 +PA37885 116369 HGNC:14468 ENSG00000112053 solute carrier family 26 member 8 SLC26A8 """Testis anion transporter 1"", ""solute carrier family 26 (anion exchanger), member 8"", ""solute carrier family 26, member 8""" TAT1 Yes No Ensembl:ENSG00000112053, GenAtlas:SLC26A8, GeneCard:SLC26A8, HGNC:HGNC:14468, HumanCyc Gene:HS03506, ModBase:Q96RN1, NCBI Gene:116369, OMIM:608480, RefSeq DNA:NT_007592, RefSeq Protein:NP_001180405, RefSeq Protein:NP_443193, RefSeq Protein:NP_619732, RefSeq RNA:NM_001193476, RefSeq RNA:NM_052961, RefSeq RNA:NM_138718, UCSC Genome Browser:NM_052961, UniProtKB:Q96RN1 No chr6 35911291 35992413 35943514 36024855 +PA37886 115019 HGNC:14469 ENSG00000174502 solute carrier family 26 member 9 SLC26A9 """anion transporter/exchanger-9"", ""solute carrier family 26 (anion exchanger), member 9"", ""solute carrier family 26, member 9""" Yes Yes Ensembl:ENSG00000174502, GenAtlas:SLC26A9, GeneCard:SLC26A9, HGNC:HGNC:14469, HumanCyc Gene:HS10805, ModBase:Q7LBE3, NCBI Gene:115019, OMIM:608481, RefSeq DNA:NT_004487, RefSeq Protein:NP_001136072, RefSeq Protein:NP_443166, RefSeq Protein:NP_599152, RefSeq RNA:NM_001142600, RefSeq RNA:NM_052934, RefSeq RNA:NM_134325, UCSC Genome Browser:NM_052934, UniProtKB:B1AVM8, UniProtKB:B3KXK1, UniProtKB:Q7LBE3 No chr1 205882176 205912588 205913048 205943472 +PA35869 376497 HGNC:10995 ENSG00000130304 solute carrier family 27 member 1 SLC27A1 solute carrier family 27 (fatty acid transporter), member 1 ACSVL5, FATP, FATP1, FLJ00336, MGC71751 Yes No Comparative Toxicogenomics Database:376497, Ensembl:ENSG00000130304, GenAtlas:SLC27A1, GeneCard:SLC27A1, HGNC:HGNC:10995, ModBase:Q6PCB7, NCBI Gene:376497, OMIM:600691, RefSeq DNA:NT_011295, RefSeq Protein:NP_940982, RefSeq RNA:NM_198580, UniProtKB:Q6PCB7 No chr19 17581300 17616977 17468745 17506169 +PA27971 11001 HGNC:10996 ENSG00000140284 solute carrier family 27 member 2 SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 ACSVL1, FACVL1, FATP2, HsT17226, VLACS, VLCS, hFACVL1 Yes No Comparative Toxicogenomics Database:11001, Ensembl:ENSG00000140284, GenAtlas:SLC27A2, GeneCard:SLC27A2, HGNC:HGNC:10996, HumanCyc Gene:HS06695, ModBase:O14975, NCBI Gene:11001, OMIM:603247, RefSeq DNA:NT_010194, RefSeq Protein:NP_001153101, RefSeq Protein:NP_003636, RefSeq RNA:NM_001159629, RefSeq RNA:NM_003645, UCSC Genome Browser:NM_003645, UniProtKB:O14975, UniProtKB:Q6PF09 No chr15 50474393 50528589 50182196 50236392 +PA35871 11000 HGNC:10997 ENSG00000143554 solute carrier family 27 member 3 SLC27A3 solute carrier family 27 (fatty acid transporter), member 3 ACSVL3, FATP3, MGC4365 Yes No Comparative Toxicogenomics Database:11000, Ensembl:ENSG00000143554, GenAtlas:SLC27A3, GeneCard:SLC27A3, HGNC:HGNC:10997, HumanCyc Gene:HS07077, ModBase:Q9BTJ5, NCBI Gene:11000, OMIM:604193, RefSeq DNA:NT_004487, RefSeq Protein:NP_077306, RefSeq RNA:NM_024330, UCSC Genome Browser:NM_024330, UniProtKB:Q5K4L6 No chr1 153746830 153752633 153774989 153780157 +PA35872 10999 HGNC:10998 ENSG00000167114 solute carrier family 27 member 4 SLC27A4 """Long-chain fatty acid transport protein 4"", ""acyl-CoA synthetase very long chain family member 4"", ""fatty acid transport protein 4"", ""solute carrier family 27 (fatty acid transporter), member 4""" ACSVL4, FATP-4, FATP4 Yes No Comparative Toxicogenomics Database:10999, Ensembl:ENSG00000167114, GenAtlas:SLC27A4, GeneCard:SLC27A4, HGNC:HGNC:10998, HumanCyc Gene:HS09515, ModBase:Q6P1M0, NCBI Gene:10999, OMIM:604194, OMIM:608649, RefSeq DNA:NG_017057, RefSeq DNA:NT_008470, RefSeq Protein:NP_005085, RefSeq RNA:NM_005094, UCSC Genome Browser:NM_005094, UniProtKB:Q6P1M0 No chr9 131102839 131123749 128340517 128361470 +PA35873 10998 HGNC:10999 ENSG00000083807 solute carrier family 27 member 5 SLC27A5 """fatty-acid-Coenzyme A ligase, very long-chain 3"", ""solute carrier family 27 (fatty acid transporter), member 5""" ACSB, ACSVL6, FACVL3, FATP5, FLJ22987, VLACSR, VLCS-H2, VLCSH2 Yes No Comparative Toxicogenomics Database:10998, Ensembl:ENSG00000083807, GenAtlas:SLC27A5, GeneCard:SLC27A5, HGNC:HGNC:10999, HumanCyc Gene:HS01451, ModBase:Q9Y2P5, NCBI Gene:10998, OMIM:603314, RefSeq DNA:NT_011109, RefSeq Protein:NP_036386, RefSeq RNA:NM_012254, UCSC Genome Browser:NM_012254, UniProtKB:Q9Y2P5 No chr19 59009700 59023432 58498333 58512065 +PA35874 28965 HGNC:11000 ENSG00000113396 solute carrier family 27 member 6 SLC27A6 """fatty-acid-Coenzyme A ligase, very long-chain 2"", ""solute carrier family 27 (fatty acid transporter), member 6""" ACSVL2, FACVL2, FATP6, VLCS-H1 Yes No Ensembl:ENSG00000113396, GenAtlas:SLC27A6, GeneCard:SLC27A6, HGNC:HGNC:11000, HumanCyc Gene:HS03679, ModBase:Q9Y2P4, NCBI Gene:28965, OMIM:604196, RefSeq DNA:NT_034772, RefSeq Protein:NP_001017372, RefSeq Protein:NP_054750, RefSeq RNA:NM_001017372, RefSeq RNA:NM_014031, UCSC Genome Browser:NM_014031, UniProtKB:Q9Y2P4 No chr5 128300951 128369335 128965127 129033642 +PA387 9154 HGNC:11001 ENSG00000156222 solute carrier family 28 member 1 SLC28A1 """solute carrier family 28 (concentrative nucleoside transporter), member 1"", ""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1""" CNT1 Yes Yes Ensembl:ENSG00000156222, GenAtlas:SLC28A1, GeneCard:SLC28A1, HGNC:HGNC:11001, HumanCyc Gene:HS08105, NCBI Gene:9154, OMIM:606207, RefSeq DNA:NT_010274, RefSeq Protein:NP_004204, RefSeq Protein:NP_964014, RefSeq RNA:NM_004213, RefSeq RNA:NM_201651, UCSC Genome Browser:NM_004213, UniProtKB:O00337, UniProtKB:Q96PL7 No chr15 85427794 85489027 84884351 84975649 +PA386 9153 HGNC:11002 ENSG00000137860 solute carrier family 28 member 2 SLC28A2 """solute carrier family 28 (concentrative nucleoside transporter), member 2"", ""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2""" CNT2, HCNT2, HsT17153, SPNT1 Yes Yes Comparative Toxicogenomics Database:9153, Ensembl:ENSG00000137860, GenAtlas:SLC28A2, GeneCard:SLC28A2, HGNC:HGNC:11002, HumanCyc Gene:HS06412, NCBI Gene:9153, OMIM:606208, RefSeq DNA:NT_010194, RefSeq Protein:NP_004203, RefSeq RNA:NM_004212, UCSC Genome Browser:NM_004212, UniProtKB:O43868, UniProtKB:Q2M2A7, UniProtKB:Q53H72 No chr15 45544428 45568132 45252230 45275934 +PA426 64078 HGNC:16484 ENSG00000197506 solute carrier family 28 member 3 SLC28A3 """solute carrier family 28 (concentrative nucleoside transporter), member 3"", ""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3""" CNT3 Yes Yes Ensembl:ENSG00000197506, GenAtlas:SLC28A3, GeneCard:SLC28A3, HGNC:HGNC:16484, ModBase:Q9HAS3, NCBI Gene:64078, OMIM:608269, RefSeq DNA:NT_008470, RefSeq Protein:NP_001186562, RefSeq Protein:NP_071410, RefSeq RNA:NM_001199633, RefSeq RNA:NM_022127, RefSeq RNA:NR_037638, UCSC Genome Browser:NM_022127, UniProtKB:Q9HAS3 No chr9 86890765 86983413 84273123 84368634 +PA154 2030 HGNC:11003 ENSG00000112759 solute carrier family 29 member 1 (Augustine blood group) SLC29A1 """solute carrier family 29 (equilibrative nucleoside transporter), member 1"", ""solute carrier family 29 (nucleoside transporters), member 1""" ENT1 Yes Yes Comparative Toxicogenomics Database:2030, Ensembl:ENSG00000112759, GenAtlas:SLC29A1, GeneCard:SLC29A1, HGNC:HGNC:11003, HumanCyc Gene:HS03616, ModBase:Q99808, NCBI Gene:2030, OMIM:602193, RefSeq DNA:NT_007592, RefSeq Protein:NP_001071642, RefSeq Protein:NP_001071643, RefSeq Protein:NP_001071644, RefSeq Protein:NP_001071645, RefSeq Protein:NP_004946, RefSeq RNA:NM_001078174, RefSeq RNA:NM_001078175, RefSeq RNA:NM_001078176, RefSeq RNA:NM_001078177, RefSeq RNA:NM_004955, UCSC Genome Browser:NM_004955, UniProtKB:Q99808 No chr6 44187242 44201888 44219505 44234151 +PA191 3177 HGNC:11004 ENSG00000174669 solute carrier family 29 member 2 SLC29A2 """solute carrier family 29 (equilibrative nucleoside transporter), member 2"", ""solute carrier family 29 (nucleoside transporters), member 2""" DER12, ENT2, HNP36 Yes No Ensembl:ENSG00000174669, GenAtlas:SLC29A2, GeneCard:SLC29A2, HGNC:HGNC:11004, HumanCyc Gene:HS10818, ModBase:Q14542, NCBI Gene:3177, OMIM:602110, RefSeq DNA:NT_167190, RefSeq Protein:NP_001523, RefSeq RNA:NM_001532, UCSC Genome Browser:NM_001532, UniProtKB:Q14542, UniProtKB:Q96FB2 No chr11 66129992 66139961 66362521 66372476 +PA134950750 55315 HGNC:23096 ENSG00000198246 solute carrier family 29 member 3 SLC29A3 """solute carrier family 29 (equilibrative nucleoside transporter), member 3"", ""solute carrier family 29 (nucleoside transporters), member 3""" ENT3, FLJ11160, hENT3 Yes Yes Ensembl:ENSG00000198246, GeneCard:SLC29A3, HGNC:HGNC:23096, NCBI Gene:55315, OMIM:612373, OMIM:612391, RefSeq DNA:NG_017066, RefSeq DNA:NT_030059, RefSeq Protein:NP_001167569, RefSeq Protein:NP_060814, RefSeq RNA:NM_001174098, RefSeq RNA:NM_018344, RefSeq RNA:NR_033413, RefSeq RNA:NR_033414, UniProtKB:Q9BZD2 No chr10 73079010 73123147 71319253 71363390 +PA134976472 222962 HGNC:23097 ENSG00000164638 solute carrier family 29 member 4 SLC29A4 """solute carrier family 29 (equilibrative nucleoside transporter), member 4"", ""solute carrier family 29 (nucleoside transporters), member 4""" ENT4, FLJ34923 Yes Yes Comparative Toxicogenomics Database:222962, Ensembl:ENSG00000164638, GeneCard:SLC29A4, HGNC:HGNC:23097, HumanCyc Gene:HS09112, ModBase:Q7RTT9, NCBI Gene:222962, OMIM:609149, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001035751, RefSeq Protein:NP_694979, RefSeq RNA:NM_001040661, RefSeq RNA:NM_153247, UniProtKB:Q7RTT9 No chr7 5322561 5343704 5274311 5304073 +PA35875 6513 HGNC:11005, HGNC:2430 ENSG00000117394 solute carrier family 2 member 1 SLC2A1 """dystonia gene 18"", ""dystonia gene 9"", ""solute carrier family 2 (facilitated glucose transporter), member 1""" CSE, DYT18, DYT9, GLUT, GLUT-1, GLUT1, HTLVR Yes Yes Comparative Toxicogenomics Database:1433, Comparative Toxicogenomics Database:6513, Ensembl:ENSG00000117394, GenAtlas:CSE, GenAtlas:SLC2A1, GeneCard:CSE, GeneCard:SLC2A1, HGNC:HGNC:11005, HGNC:HGNC:2430, HumanCyc Gene:HS04123, ModBase:P11166, NCBI Gene:6513, OMIM:138140, OMIM:601042, OMIM:606777, OMIM:612126, RefSeq DNA:NG_008232, RefSeq DNA:NT_032977, RefSeq Protein:NP_006507, RefSeq RNA:NM_006516, UCSC Genome Browser:NM_006516, UniProtKB:P11166, UniProtKB:Q59GX2 No chr1 43391046 43424847 42925375 42959176 +PA37769 81031 HGNC:13444 ENSG00000197496 solute carrier family 2 member 10 SLC2A10 """facilitative glucose transporter GLUT10"", ""solute carrier family 2 (facilitated glucose transporter), member 10""" GLUT-10, GLUT10 Yes No Comparative Toxicogenomics Database:81031, Ensembl:ENSG00000197496, GenAtlas:SLC2A10, GeneCard:SLC2A10, HGNC:HGNC:13444, ModBase:O95528, NCBI Gene:81031, OMIM:208050, OMIM:606145, RefSeq DNA:NG_016284, RefSeq DNA:NT_011362, RefSeq Protein:NP_110404, RefSeq RNA:NM_030777, UCSC Genome Browser:NM_030777, UniProtKB:O95528 No chr20 45338279 45364986 46708358 46736347 +PA37861 66035 HGNC:14239 ENSG00000133460 solute carrier family 2 member 11 SLC2A11 solute carrier family 2 (facilitated glucose transporter), member 11 GLUT10, GLUT11 Yes No Ensembl:ENSG00000133460, GenAtlas:SLC2A11, GeneCard:SLC2A11, HGNC:HGNC:14239, HumanCyc Gene:HS05765, ModBase:Q9BYW1, NCBI Gene:66035, OMIM:610367, RefSeq DNA:NT_011520, RefSeq Protein:NP_001020109, RefSeq Protein:NP_001020110, RefSeq Protein:NP_110434, RefSeq RNA:NM_001024938, RefSeq RNA:NM_001024939, RefSeq RNA:NM_030807, UCSC Genome Browser:NM_030807, UniProtKB:Q504W2, UniProtKB:Q8WXF9, UniProtKB:Q9BYW1 No chr22 24199059 24227738 23856703 23886112 +PA38288 154091 HGNC:18067 ENSG00000146411 solute carrier family 2 member 12 SLC2A12 solute carrier family 2 (facilitated glucose transporter), member 12 GLUT12, GLUT8 Yes No Ensembl:ENSG00000146411, GenAtlas:SLC2A12, GeneCard:SLC2A12, HGNC:HGNC:18067, HumanCyc Gene:HS07348, ModBase:Q8TD20, NCBI Gene:154091, OMIM:610372, RefSeq DNA:NT_025741, RefSeq Protein:NP_660159, RefSeq RNA:NM_145176, UCSC Genome Browser:NM_145176, UniProtKB:Q8TD20 No chr6 134308719 134373789 133987581 134052668 +PA38066 114134 HGNC:15956 ENSG00000151229 solute carrier family 2 member 13 SLC2A13 """H(+)-myo-inositol symporter"", ""solute carrier family 2 (facilitated glucose transporter), member 13""" HMIT Yes No Ensembl:ENSG00000151229, GenAtlas:SLC2A13, GeneCard:SLC2A13, HGNC:HGNC:15956, HumanCyc Gene:HS07716, ModBase:Q96QE2, NCBI Gene:114134, OMIM:611036, RefSeq DNA:NT_029419, RefSeq Protein:NP_443117, RefSeq RNA:NM_052885, UCSC Genome Browser:NM_052885, UniProtKB:Q96QE2 No chr12 40148823 40499847 39755021 40106085 +PA134885058 144195 HGNC:18301 ENSG00000173262 solute carrier family 2 member 14 SLC2A14 solute carrier family 2 (facilitated glucose transporter), member 14 GLUT14, SLC2A3P3 Yes No Comparative Toxicogenomics Database:144195, Ensembl:ENSG00000173262, GeneCard:SLC2A14, HGNC:HGNC:18301, HumanCyc Gene:HS10639, ModBase:Q8TDB8, NCBI Gene:144195, OMIM:611039, RefSeq DNA:NT_009714, RefSeq Protein:NP_703150, RefSeq RNA:NM_153449, UniProtKB:Q8TDB8 No chr12 7965110 8043792 7812512 7891196 +PA35876 6514 HGNC:11006 ENSG00000163581 solute carrier family 2 member 2 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 GLUT-2, GLUT2 Yes Yes Comparative Toxicogenomics Database:6514, Ensembl:ENSG00000163581, GenAtlas:SLC2A2, GeneCard:SLC2A2, HGNC:HGNC:11006, HumanCyc Gene:HS08885, ModBase:P11168, NCBI Gene:6514, OMIM:138160, OMIM:227810, RefSeq DNA:NG_008108, RefSeq DNA:NT_005612, RefSeq Protein:NP_000331, RefSeq RNA:NM_000340, UCSC Genome Browser:NM_000340, UniProtKB:P11168 No chr3 170714137 170744768 170996341 171026979 +PA35877 6515 HGNC:11007 ENSG00000059804 solute carrier family 2 member 3 SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 GLUT3 Yes No Comparative Toxicogenomics Database:6515, Ensembl:ENSG00000059804, GenAtlas:SLC2A3, GeneCard:SLC2A3, HGNC:HGNC:11007, HumanCyc Gene:HS00736, ModBase:P11169, NCBI Gene:6515, OMIM:138170, RefSeq DNA:NT_009714, RefSeq Protein:NP_008862, RefSeq RNA:NM_006931, UCSC Genome Browser:NM_006931, UniProtKB:P11169 No chr12 8071824 8088895 7919228 7936296 +PA35878 100128062 HGNC:11008 ENSG00000253861 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 1 SLC2A3P1 Yes No Ensembl:ENSG00000253861, GenAtlas:SLC2A3P1, GeneCard:SLC2A3P1, HGNC:HGNC:11008, NCBI Gene:100128062, RefSeq DNA:NG_008263, RefSeq DNA:NT_023133 No chr5 167979499 167980658 168552494 168553653 +PA134948211 391045 HGNC:31074 ENSG00000185031 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 2 SLC2A3P2 Yes No Ensembl:ENSG00000185031, GeneCard:SLC2A3P2, HGNC:HGNC:31074, NCBI Gene:391045, RefSeq DNA:NG_005841, RefSeq DNA:NT_032977 No chr1 65448465 65451791 64982782 64986108 +PA134964499 399495 HGNC:31076 ENSG00000254088 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 4 SLC2A3P4 Yes No Ensembl:ENSG00000254088, GeneCard:SLC2A3P4, HGNC:HGNC:31076, NCBI Gene:399495, RefSeq DNA:NG_009577, RefSeq DNA:NT_008046 No chr8 87515645 87519176 86503416 86506947 +PA35879 6517 HGNC:11009 ENSG00000181856 solute carrier family 2 member 4 SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 GLUT4 Yes No Comparative Toxicogenomics Database:6517, Ensembl:ENSG00000181856, GenAtlas:SLC2A4, GeneCard:SLC2A4, HGNC:HGNC:11009, HumanCyc Gene:HS11675, ModBase:P14672, NCBI Gene:6517, OMIM:125853, OMIM:138190, RefSeq DNA:NG_012127, RefSeq DNA:NT_010718, RefSeq Protein:NP_001033, RefSeq RNA:NM_001042, UCSC Genome Browser:NM_001042, UniProtKB:P14672, UniProtKB:Q05BQ3 No chr17 7184986 7191367 7281735 7288048 +PA38052 56731 HGNC:15930 ENSG00000125520 SLC2A4 regulator SLC2A4RG GLUT4 enhancer factor, Huntington's disease gene regulatory region-binding protein 1 GEF, HDBP1, Si-1-2, Si-1-2-19 Yes No Comparative Toxicogenomics Database:56731, Ensembl:ENSG00000125520, GenAtlas:SLC2A4RG, GeneCard:SLC2A4RG, HGNC:HGNC:15930, HumanCyc Gene:HS04900, ModBase:Q9NR83, NCBI Gene:56731, OMIM:609493, RefSeq DNA:NT_011333, RefSeq Protein:NP_064446, RefSeq RNA:NM_020062, UCSC Genome Browser:NM_020062, UniProtKB:Q9NR83 No chr20 62371211 62375403 63739858 63744050 +PA35880 6518 HGNC:11010 ENSG00000142583 solute carrier family 2 member 5 SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 GLUT5 Yes No Comparative Toxicogenomics Database:6518, Ensembl:ENSG00000142583, GenAtlas:SLC2A5, GeneCard:SLC2A5, HGNC:HGNC:11010, HumanCyc Gene:HS06939, ModBase:P22732, NCBI Gene:6518, OMIM:138230, RefSeq DNA:NT_021937, RefSeq Protein:NP_001129057, RefSeq Protein:NP_003030, RefSeq RNA:NM_001135585, RefSeq RNA:NM_003039, RefSeq RNA:NR_024180, UCSC Genome Browser:NM_003039, UniProtKB:P22732, UniProtKB:Q8IVB3 No chr1 9097005 9131763 9036941 9093407 +PA35881 11182 HGNC:11011 ENSG00000160326 solute carrier family 2 member 6 SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6 GLUT6, GLUT9, HSA011372 Yes No Ensembl:ENSG00000160326, GenAtlas:SLC2A6, GeneCard:SLC2A6, HGNC:HGNC:11011, HumanCyc Gene:HS08490, ModBase:Q9UGQ3, NCBI Gene:11182, OMIM:606813, RefSeq DNA:NT_035014, RefSeq Protein:NP_001138571, RefSeq Protein:NP_060055, RefSeq RNA:NM_001145099, RefSeq RNA:NM_017585, UCSC Genome Browser:NM_017585, UniProtKB:Q8NCC2, UniProtKB:Q9UGQ3 No chr9 136336216 136344276 133471094 133479154 +PA37770 155184 HGNC:13445 ENSG00000197241 solute carrier family 2 member 7 SLC2A7 """intestinal facilitative glucose transporter 7"", ""solute carrier family 2 (facilitated glucose transporter), member 7""" GLUT7 Yes No Ensembl:ENSG00000197241, GenAtlas:SLC2A7, GeneCard:SLC2A7, HGNC:HGNC:13445, ModBase:Q6PXP3, NCBI Gene:155184, OMIM:610371, RefSeq DNA:NT_021937, RefSeq Protein:NP_997303, RefSeq RNA:NM_207420, UniProtKB:Q6PXP3 No chr1 9063359 9086404 8992534 9026384 +PA37813 29988 HGNC:13812 ENSG00000136856 solute carrier family 2 member 8 SLC2A8 solute carrier family 2 (facilitated glucose transporter), member 8 GLUT8, GLUTX1 Yes No Comparative Toxicogenomics Database:29988, Ensembl:ENSG00000136856, GenAtlas:SLC2A8, GeneCard:SLC2A8, HGNC:HGNC:13812, HumanCyc Gene:HS06226, ModBase:Q9NY64, NCBI Gene:29988, OMIM:605245, RefSeq DNA:NT_008470, RefSeq Protein:NP_055395, RefSeq RNA:NM_014580, UCSC Genome Browser:NM_014580, UniProtKB:Q9NY64 No chr9 130159417 130170177 127397138 127407898 +PA37771 56606 HGNC:13446 ENSG00000109667 solute carrier family 2 member 9 SLC2A9 """solute carrier family 2 (facilitated glucose transporter), member 9"", ""urate voltage-driven efflux transporter 1""" GLUTX, Glut9, URATv1 Yes Yes Comparative Toxicogenomics Database:56606, Ensembl:ENSG00000109667, GenAtlas:SLC2A9, GeneCard:SLC2A9, HGNC:HGNC:13446, HumanCyc Gene:HS03246, ModBase:Q9NRM0, NCBI Gene:56606, OMIM:606142, OMIM:612076, RefSeq DNA:NG_011540, RefSeq DNA:NT_006316, RefSeq Protein:NP_001001290, RefSeq Protein:NP_064425, RefSeq RNA:NM_001001290, RefSeq RNA:NM_020041, UCSC Genome Browser:NM_020041, UniProtKB:Q9NRM0 No chr4 9827848 10041872 9771125 10040248 +PA134861902 399496 HGNC:31077 ENSG00000275768 solute carrier family 2 (facilitated glucose transporter), pseudogene 1 SLC2AXP1 Yes No Ensembl:ENSG00000275768, GeneCard:SLC2AXP1, HGNC:HGNC:31077, NCBI Gene:399496, RefSeq DNA:NG_011411, RefSeq DNA:NT_022171 No chr2 95862243 95863132 95196495 95197384 +PA35882 7779 HGNC:11012 ENSG00000170385 solute carrier family 30 member 1 SLC30A1 """solute carrier family 30 (zinc transporter), member 1"", ""zinc resistance conferring homolog (S. cerevisiae)""" ZNT1, ZRC1 Yes No Comparative Toxicogenomics Database:7779, Ensembl:ENSG00000170385, GenAtlas:SLC30A1, GeneCard:SLC30A1, HGNC:HGNC:11012, HumanCyc Gene:HS10120, NCBI Gene:7779, OMIM:609521, RefSeq DNA:NT_167186, RefSeq Protein:NP_067017, RefSeq RNA:NM_021194, UCSC Genome Browser:NM_021194, UniProtKB:Q9Y6M5 No chr1 211748381 211752099 211575039 211578757 +PA142670903 55532 HGNC:25355 ENSG00000196660 solute carrier family 30 member 10 SLC30A10 """solute carrier family 30, member 10"", ""zinc resistance conferring homolog (S. cerevisiae)"", ""zinc transporter 10"", ""zinc transporter 8""" DKFZp547M236, ZNT10, ZNT8, ZRC1, ZnT-10 Yes No Comparative Toxicogenomics Database:55532, Ensembl:ENSG00000196660, GeneCard:SLC30A10, HGNC:HGNC:25355, NCBI Gene:55532, OMIM:611146, RefSeq DNA:NT_167186, RefSeq Protein:NP_061183, RefSeq RNA:NM_018713, UniProtKB:B3KR19, UniProtKB:Q6XR72 No chr1 220087606 220101993 219910398 219959754 +PA35883 7780 HGNC:11013 ENSG00000158014 solute carrier family 30 member 2 SLC30A2 solute carrier family 30 (zinc transporter), member 2 ZNT2 Yes No Comparative Toxicogenomics Database:7780, Ensembl:ENSG00000158014, GenAtlas:SLC30A2, GeneCard:SLC30A2, HGNC:HGNC:11013, ModBase:Q9BRI3, NCBI Gene:7780, OMIM:609617, RefSeq DNA:NT_004610, RefSeq Protein:NP_001004434, RefSeq Protein:NP_115902, RefSeq RNA:NM_001004434, RefSeq RNA:NM_032513, UCSC Genome Browser:NM_032513, UniProtKB:B3KSN7, UniProtKB:Q71RC8, UniProtKB:Q9BRI3 No chr1 26364513 26373439 26038022 26046138 +PA35884 7781 HGNC:11014 ENSG00000115194 solute carrier family 30 member 3 SLC30A3 solute carrier family 30 (zinc transporter), member 3 ZNT3 Yes No Comparative Toxicogenomics Database:7781, Ensembl:ENSG00000115194, GenAtlas:SLC30A3, GeneCard:SLC30A3, HGNC:HGNC:11014, HumanCyc Gene:HS03845, ModBase:Q99726, NCBI Gene:7781, OMIM:602878, RefSeq DNA:NT_022184, RefSeq Protein:NP_003450, RefSeq RNA:NM_003459, UCSC Genome Browser:NM_003459, UniProtKB:Q99726 No chr2 27477440 27501093 27254572 27275863 +PA35885 7782 HGNC:11015 ENSG00000104154 solute carrier family 30 member 4 SLC30A4 solute carrier family 30 (zinc transporter), member 4 ZNT4 Yes No Comparative Toxicogenomics Database:7782, Ensembl:ENSG00000104154, GenAtlas:SLC30A4, GeneCard:SLC30A4, HGNC:HGNC:11015, HumanCyc Gene:HS02549, ModBase:O14863, NCBI Gene:7782, OMIM:602095, RefSeq DNA:NT_010194, RefSeq Protein:NP_037441, RefSeq RNA:NM_013309, UCSC Genome Browser:NM_013309, UniProtKB:O14863 No chr15 45774676 45815005 45479613 45523685 +PA134865113 64924 HGNC:19089 ENSG00000145740 solute carrier family 30 member 5 SLC30A5 solute carrier family 30 (zinc transporter), member 5 FLJ12496, FLJ12756, MGC5499, ZNT5, ZNTL1, ZTL1, ZnT-5 Yes No Comparative Toxicogenomics Database:64924, Ensembl:ENSG00000145740, GeneCard:SLC30A5, HGNC:HGNC:19089, HumanCyc Gene:HS07282, ModBase:Q8TAD4, NCBI Gene:64924, OMIM:607819, RefSeq DNA:NT_006713, RefSeq Protein:NP_075053, RefSeq Protein:NP_076960, RefSeq RNA:NM_022902, RefSeq RNA:NM_024055, UniProtKB:Q8TAD4, UniProtKB:Q9BVY8 No chr5 68389776 68426899 69093949 69131072 +PA134923067 55676 HGNC:19305 ENSG00000152683 solute carrier family 30 member 6 SLC30A6 solute carrier family 30 (zinc transporter), member 6 FLJ31101, ZNT6 Yes No Comparative Toxicogenomics Database:55676, Ensembl:ENSG00000152683, GeneCard:SLC30A6, HGNC:HGNC:19305, HumanCyc Gene:HS07846, ModBase:Q6NXT4, NCBI Gene:55676, OMIM:611148, RefSeq DNA:NT_022184, RefSeq Protein:NP_001180442, RefSeq Protein:NP_001180443, RefSeq Protein:NP_001180444, RefSeq Protein:NP_060434, RefSeq RNA:NM_001193513, RefSeq RNA:NM_001193514, RefSeq RNA:NM_001193515, RefSeq RNA:NM_017964, UniProtKB:Q6NXT4 No chr2 32390910 32449181 32165841 32224806 +PA134891595 148867 HGNC:19306 ENSG00000162695 solute carrier family 30 member 7 SLC30A7 solute carrier family 30 (zinc transporter), member 7 ZNT7, ZnTL2 Yes No Comparative Toxicogenomics Database:148867, Ensembl:ENSG00000162695, GeneCard:SLC30A7, HGNC:HGNC:19306, HumanCyc Gene:HS08720, ModBase:Q8NEW0, NCBI Gene:148867, OMIM:611149, RefSeq DNA:NT_032977, RefSeq Protein:NP_001138356, RefSeq Protein:NP_598003, RefSeq RNA:NM_001144884, RefSeq RNA:NM_133496, UniProtKB:Q8NEW0 No chr1 101361632 101552821 100896076 100996913 +PA134915546 169026 HGNC:20303 ENSG00000164756 solute carrier family 30 member 8 SLC30A8 """Zinc transporter 8"", ""solute carrier family 30 (zinc transporter), member 8""" ZNT8, ZnT-8 Yes Yes Comparative Toxicogenomics Database:169026, Ensembl:ENSG00000164756, GeneCard:SLC30A8, HGNC:HGNC:20303, HumanCyc Gene:HS09132, ModBase:Q8IWU4, NCBI Gene:169026, OMIM:125853, OMIM:611145, RefSeq DNA:NG_016991, RefSeq DNA:NT_008046, RefSeq Protein:NP_001166282, RefSeq Protein:NP_001166284, RefSeq Protein:NP_001166285, RefSeq Protein:NP_001166286, RefSeq Protein:NP_776250, RefSeq RNA:NM_001172811, RefSeq RNA:NM_001172813, RefSeq RNA:NM_001172814, RefSeq RNA:NM_001172815, RefSeq RNA:NM_173851, UniProtKB:Q8IWU4 No chr8 117962512 118188953 116950273 117176714 +PA25909 10463 HGNC:1329 ENSG00000014824 solute carrier family 30 member 9 SLC30A9 """GRIP1-dependent nuclear receptor coactivator"", ""solute carrier family 30 (zinc transporter), member 9""" C4orf1, GAC63, HUEL, ZNT9 Yes Yes Comparative Toxicogenomics Database:10463, Ensembl:ENSG00000014824, GeneCard:SLC30A9, HGNC:HGNC:1329, HumanCyc Gene:HS00362, ModBase:Q6PML9, NCBI Gene:10463, OMIM:604604, RefSeq DNA:NT_006238, RefSeq Protein:NP_006336, RefSeq RNA:NM_006345, UCSC Genome Browser:NM_006345, UniProtKB:Q6PML9 No chr4 41992516 42089551 41990472 42087534 +PA118 1317 HGNC:11016 ENSG00000136868 solute carrier family 31 member 1 SLC31A1 """copper transport 1 homolog (S. cerevisiae)"", ""solute carrier family 31 (copper transporter), member 1"", ""solute carrier family 31 (copper transporters), member 1""" COPT1, CTR1, hCTR1 Yes Yes Comparative Toxicogenomics Database:1317, Ensembl:ENSG00000136868, GenAtlas:SLC31A1, GeneCard:SLC31A1, HGNC:HGNC:11016, HumanCyc Gene:HS06231, ModBase:O15431, NCBI Gene:1317, OMIM:603085, RefSeq DNA:NT_008470, RefSeq Protein:NP_001850, RefSeq RNA:NM_001859, UCSC Genome Browser:NM_001859, UniProtKB:O15431 No chr9 115983808 116026772 113221528 113264492 +PA38201 117151 HGNC:17124 ENSG00000224426 solute carrier family 31 (copper transporters), member 1 pseudogene 1 SLC31A1P1 CTR1psi Yes No Ensembl:ENSG00000224426, GenAtlas:SLC31A1P, GeneCard:SLC31A1P1, HGNC:HGNC:17124, NCBI Gene:117151, RefSeq DNA:NG_009573 No chr3 172317176 172321973 172599386 172604183 +PA35886 1318 HGNC:11017 ENSG00000136867 solute carrier family 31 member 2 SLC31A2 """copper transporter 2"", ""solute carrier family 31 (copper transporter), member 2"", ""solute carrier family 31 (copper transporters), member 2""" COPT2, CTR2, hCTR2 Yes No Comparative Toxicogenomics Database:1318, Ensembl:ENSG00000136867, GenAtlas:SLC31A2, GeneCard:SLC31A2, HGNC:HGNC:11017, HumanCyc Gene:HS06230, NCBI Gene:1318, OMIM:603088, RefSeq DNA:NT_008470, RefSeq Protein:NP_001851, RefSeq RNA:NM_001860, UCSC Genome Browser:NM_001860, UniProtKB:O15432, UniProtKB:Q53X94 No chr9 115913238 115926422 113150958 113164142 +PA401 140679 HGNC:11018 ENSG00000101438 solute carrier family 32 member 1 SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 VGAT, VIAAT, bA122O1.1 Yes No Comparative Toxicogenomics Database:140679, Ensembl:ENSG00000101438, GenAtlas:SLC32A1, GeneCard:SLC32A1, HGNC:HGNC:11018, HumanCyc Gene:HS02267, ModBase:Q9H598, NCBI Gene:140679, RefSeq DNA:NT_011362, RefSeq Protein:NP_542119, RefSeq RNA:NM_080552, UniProtKB:Q9H598 No chr20 37353105 37358015 38724462 38729372 +PA24432 9197 HGNC:95 ENSG00000169359 solute carrier family 33 member 1 SLC33A1 """Acetyl-CoA transporter 1"", ""solute carrier family 33 (acetyl-CoA transporter), member 1""" ACATN, AT-1, AT1, SPG42 Yes No Ensembl:ENSG00000169359, GeneCard:SLC33A1, HGNC:HGNC:95, HumanCyc Gene:HS09932, ModBase:O00400, NCBI Gene:9197, OMIM:603690, OMIM:612539, RefSeq DNA:NG_023365, RefSeq DNA:NT_005612, RefSeq Protein:NP_001177921, RefSeq Protein:NP_004724, RefSeq RNA:NM_001190992, RefSeq RNA:NM_004733, UCSC Genome Browser:NM_004733, UniProtKB:O00400 No chr3 155544300 155572248 155826511 155854459 +PA35887 6569 HGNC:11019 ENSG00000131183 solute carrier family 34 member 1 SLC34A1 """Na+-phosphate cotransporter type II"", ""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""solute carrier family 34 (sodium phosphate), member 1"", ""solute carrier family 34 (type II sodium/phosphate cotransporter), member 1""" NAPI-3, NPT2, NPTIIa, SLC11, SLC17A2 Yes No Comparative Toxicogenomics Database:6569, Ensembl:ENSG00000131183, GenAtlas:SLC34A1, GeneCard:SLC34A1, HGNC:HGNC:11019, HumanCyc Gene:HS05499, ModBase:Q06495, NCBI Gene:6569, OMIM:182309, OMIM:612286, OMIM:613388, RefSeq DNA:NG_016223, RefSeq DNA:NT_023133, RefSeq Protein:NP_001161051, RefSeq Protein:NP_003043, RefSeq RNA:NM_001167579, RefSeq RNA:NM_003052, UCSC Genome Browser:NM_003052, UniProtKB:B4DPE3, UniProtKB:Q06495, UniProtKB:Q7Z725, UniProtKB:Q86VN6 No chr5 176811432 176825849 177384431 177412021 +PA35888 10568 HGNC:11020 ENSG00000157765 solute carrier family 34 member 2 SLC34A2 """Sodium-dependent phosphate transport protein 2B"", ""solute carrier family 34 (sodium phosphate), member 2"", ""solute carrier family 34 (type II sodium/phosphate cotransporter), member 2""" NAPI-3B, NAPI-IIb, NPTIIb, NaPi-2b, NaPi2b Yes No Comparative Toxicogenomics Database:10568, Ensembl:ENSG00000157765, GenAtlas:SLC34A2, GeneCard:SLC34A2, HGNC:HGNC:11020, HumanCyc Gene:HS08239, ModBase:O95436, NCBI Gene:10568, OMIM:265100, OMIM:604217, OMIM:610441, RefSeq DNA:NG_021185, RefSeq DNA:NT_006316, RefSeq Protein:NP_001171469, RefSeq Protein:NP_001171470, RefSeq Protein:NP_006415, RefSeq RNA:NM_001177998, RefSeq RNA:NM_001177999, RefSeq RNA:NM_006424, UCSC Genome Browser:NM_006424, UniProtKB:O95436 No chr4 25656853 25680735 25655813 25678748 +PA134930298 142680 HGNC:20305 ENSG00000198569 solute carrier family 34 member 3 SLC34A3 """Sodium-dependent phosphate transport protein 2C"", ""solute carrier family 34 (sodium phosphate), member 3"", ""solute carrier family 34 (type II sodium/phosphate cotransporter), member 3""" FLJ38680, NPT2C, NPTIIc, NaPi-2c Yes No Comparative Toxicogenomics Database:142680, Ensembl:ENSG00000198569, GeneCard:SLC34A3, HGNC:HGNC:20305, ModBase:Q8N130, NCBI Gene:142680, OMIM:241530, OMIM:609826, RefSeq DNA:NG_017008, RefSeq DNA:NT_024000, RefSeq Protein:NP_001170787, RefSeq Protein:NP_001170788, RefSeq Protein:NP_543153, RefSeq RNA:NM_001177316, RefSeq RNA:NM_001177317, RefSeq RNA:NM_080877, UniProtKB:Q8N130 No chr9 140125209 140131006 137230757 137236554 +PA35889 10559 HGNC:11021 ENSG00000164414 solute carrier family 35 member A1 SLC35A1 """CMP-sialic acid transporter"", ""solute carrier family 35 (CMP-sialic acid transporter), member A1""" CMP-Sia-Tr, CMPST, hCST Yes No Comparative Toxicogenomics Database:10559, Ensembl:ENSG00000164414, GenAtlas:SLC35A1, GeneCard:SLC35A1, HGNC:HGNC:11021, ModBase:P78382, NCBI Gene:10559, OMIM:603585, OMIM:605634, RefSeq DNA:NG_016207, RefSeq DNA:NT_007299, RefSeq Protein:NP_001161870, RefSeq Protein:NP_006407, RefSeq RNA:NM_001168398, RefSeq RNA:NM_006416, UCSC Genome Browser:NM_006416, UniProtKB:P78382, UniProtKB:Q5W1L8 No chr6 88182637 88222057 87472925 87512339 +PA35890 7355 HGNC:11022 ENSG00000102100 solute carrier family 35 member A2 SLC35A2 """UDP-galactose translocator"", ""solute carrier family 35 (UDP-galactose transporter), member A2""" UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL Yes No Ensembl:ENSG00000102100, GenAtlas:SLC35A2, GeneCard:SLC35A2, HGNC:HGNC:11022, HumanCyc Gene:HS02352, ModBase:P78381, NCBI Gene:7355, OMIM:314375, RefSeq DNA:NT_079573, RefSeq Protein:NP_001027460, RefSeq Protein:NP_001035963, RefSeq Protein:NP_005651, RefSeq RNA:NM_001032289, RefSeq RNA:NM_001042498, RefSeq RNA:NM_005660, UCSC Genome Browser:NM_005660, UniProtKB:P78381, UniProtKB:Q8IV21 No chrX 48760459 48769235 48903180 48911958 +PA35891 23443 HGNC:11023 ENSG00000117620 solute carrier family 35 member A3 SLC35A3 """UDP-N-acetylglucosamine transporter"", ""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3""" Yes No Comparative Toxicogenomics Database:23443, Ensembl:ENSG00000117620, GenAtlas:SLC35A3, GeneCard:SLC35A3, HGNC:HGNC:11023, HumanCyc Gene:HS04159, ModBase:Q9Y2D2, NCBI Gene:23443, OMIM:605632, RefSeq DNA:NT_032977, RefSeq Protein:NP_036375, RefSeq RNA:NM_012243, UCSC Genome Browser:NM_012243, UniProtKB:Q9Y2D2 No chr1 100435345 100492535 99969367 100026979 +PA134971555 113829 HGNC:20753 ENSG00000176087 solute carrier family 35 member A4 SLC35A4 solute carrier family 35, member A4 Yes No Comparative Toxicogenomics Database:113829, Ensembl:ENSG00000176087, GeneCard:SLC35A4, HGNC:HGNC:20753, HumanCyc Gene:HS16586, ModBase:Q96G79, NCBI Gene:113829, RefSeq DNA:NT_029289, RefSeq Protein:NP_542401, RefSeq RNA:NM_080670, UniProtKB:Q96G79 No chr5 139944420 139948683 140564565 140569104 +PA134947136 55032 HGNC:20792 ENSG00000138459 solute carrier family 35 member A5 SLC35A5 solute carrier family 35, member A5 FLJ20730 Yes No Comparative Toxicogenomics Database:55032, Ensembl:ENSG00000138459, GeneCard:SLC35A5, HGNC:HGNC:20792, HumanCyc Gene:HS06509, ModBase:Q9BS91, NCBI Gene:55032, RefSeq DNA:NT_005612, RefSeq Protein:NP_060415, RefSeq RNA:NM_017945, UniProtKB:Q9BS91 No chr3 112280857 112303286 112561709 112584439 +PA134864001 10237 HGNC:20798 ENSG00000121073 solute carrier family 35 member B1 SLC35B1 """ATP/ADP exchanger in the ER membrane"", ""solute carrier family 35, member B1""" AXER, UGTREL1 Yes No Comparative Toxicogenomics Database:10237, Ensembl:ENSG00000121073, GeneCard:SLC35B1, HGNC:HGNC:20798, HumanCyc Gene:HS04470, ModBase:P78383, NCBI Gene:10237, OMIM:610790, RefSeq DNA:NT_010783, RefSeq Protein:NP_005818, RefSeq RNA:NM_005827, UniProtKB:P78383 No chr17 47778296 47785313 49700934 49708173 +PA134927864 347734 HGNC:16872 ENSG00000157593 solute carrier family 35 member B2 SLC35B2 """solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2"", ""solute carrier family 35, member B2""" UGTrel4 Yes No Comparative Toxicogenomics Database:347734, Ensembl:ENSG00000157593, GeneCard:SLC35B2, HGNC:HGNC:16872, ModBase:Q8TB61, NCBI Gene:347734, OMIM:610788, RefSeq DNA:NT_007592, RefSeq Protein:NP_835361, RefSeq RNA:NM_178148, UniProtKB:Q8TB61 No chr6 44221838 44225283 44254101 44257890 +PA134889889 51000 HGNC:21601 ENSG00000124786 solute carrier family 35 member B3 SLC35B3 """3' phosphoadenosine 5' phosphosulfate transporter 2"", ""solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3"", ""solute carrier family 35, member B3""" C6orf196, CGI-19, PAPST2, dJ453H5.1 Yes No Ensembl:ENSG00000124786, GeneCard:SLC35B3, HGNC:HGNC:21601, HumanCyc Gene:HS13146, ModBase:Q9H1N7, NCBI Gene:51000, OMIM:610845, RefSeq DNA:NT_007592, RefSeq Protein:NP_001136012, RefSeq Protein:NP_001136013, RefSeq Protein:NP_057032, RefSeq RNA:NM_001142540, RefSeq RNA:NM_001142541, RefSeq RNA:NM_015948, UniProtKB:Q9H1N7 No chr6 8413301 8435794 8413066 8435606 +PA134922110 84912 HGNC:20584 ENSG00000205060 solute carrier family 35 member B4 SLC35B4 """solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4"", ""solute carrier family 35, member B4""" FLJ14697, YEA4 Yes No Comparative Toxicogenomics Database:84912, Ensembl:ENSG00000205060, GeneCard:SLC35B4, HGNC:HGNC:20584, ModBase:Q969S0, NCBI Gene:84912, OMIM:610923, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_116215, RefSeq RNA:NM_032826, UniProtKB:Q969S0 No chr7 133974089 134001827 134289337 134320307 +PA134930330 55343 HGNC:20197 ENSG00000181830 solute carrier family 35 member C1 SLC35C1 """GDP-fucose transporter 1"", ""solute carrier family 35 (GDP-fucose transporter), member C1"", ""solute carrier family 35, member C1""" FLJ11320, FUCT1 Yes No Comparative Toxicogenomics Database:55343, Ensembl:ENSG00000181830, GeneCard:SLC35C1, HGNC:HGNC:20197, HumanCyc Gene:HS11671, ModBase:Q96A29, NCBI Gene:55343, OMIM:266265, OMIM:605881, RefSeq DNA:NG_009875, RefSeq DNA:NT_009237, RefSeq Protein:NP_001138737, RefSeq Protein:NP_001138738, RefSeq Protein:NP_060859, RefSeq RNA:NM_001145265, RefSeq RNA:NM_001145266, RefSeq RNA:NM_018389, UniProtKB:B2RDB2, UniProtKB:B3KQH0, UniProtKB:Q96A29 No chr11 45825623 45834568 45804072 45813016 +PA32850 51006 HGNC:17117 ENSG00000080189 solute carrier family 35 member C2 SLC35C2 """solute carrier family 35 (GDP-fucose transporter), member C2"", ""solute carrier family 35, member C2""" C20orf5, CGI-15, OVCOV1, bA394O2.1 Yes No Comparative Toxicogenomics Database:51006, Ensembl:ENSG00000080189, GenAtlas:SLC35C2, GeneCard:SLC35C2, HGNC:HGNC:17117, HumanCyc Gene:HS01348, ModBase:Q9NQQ7, NCBI Gene:51006, RefSeq DNA:NT_011362, RefSeq Protein:NP_057029, RefSeq Protein:NP_775096, RefSeq Protein:NP_775271, RefSeq RNA:NM_015945, RefSeq RNA:NM_173073, RefSeq RNA:NM_173179, UCSC Genome Browser:NM_015945, UniProtKB:Q9NQQ7 No chr20 44978167 44993097 46349528 46364461 +PA134978757 23169 HGNC:20800 ENSG00000116704 solute carrier family 35 member D1 SLC35D1 """UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter"", ""solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1"", ""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1""" KIAA0260, UGTREL7 Yes No Comparative Toxicogenomics Database:23169, Ensembl:ENSG00000116704, GeneCard:SLC35D1, HGNC:HGNC:20800, HumanCyc Gene:HS04038, ModBase:Q9NTN3, NCBI Gene:23169, OMIM:269250, OMIM:610804, RefSeq DNA:NG_012933, RefSeq DNA:NT_032977, RefSeq Protein:NP_055954, RefSeq RNA:NM_015139, UniProtKB:Q9NTN3 No chr1 67465015 67520080 66999332 67054397 +PA134909604 11046 HGNC:20799 ENSG00000130958 solute carrier family 35 member D2 SLC35D2 """solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2"", ""solute carrier family 35, member D2""" SQV7L, UGTrel8 Yes No Ensembl:ENSG00000130958, GeneCard:SLC35D2, HGNC:HGNC:20799, ModBase:Q76EJ3, NCBI Gene:11046, OMIM:609182, RefSeq DNA:NT_008470, RefSeq Protein:NP_008932, RefSeq RNA:NM_007001, UniProtKB:Q76EJ3 No chr9 99075719 99145992 96313437 96383710 +PA134876893 340146 HGNC:15621 ENSG00000182747 solute carrier family 35 member D3 SLC35D3 solute carrier family 35, member D3 FRCL1 Yes No Ensembl:ENSG00000182747, GeneCard:SLC35D3, HGNC:HGNC:15621, ModBase:Q5M8T2, NCBI Gene:340146, OMIM:612519, RefSeq DNA:NT_025741, RefSeq Protein:NP_001008783, RefSeq RNA:NM_001008783, UniProtKB:Q5M8T2 No chr6 137243402 137246777 136922241 136925660 +PA134916810 79939 HGNC:20803 ENSG00000127526 solute carrier family 35 member E1 SLC35E1 solute carrier family 35, member E1 FLJ14251 Yes No Ensembl:ENSG00000127526, GeneCard:SLC35E1, HGNC:HGNC:20803, HumanCyc Gene:HS13242, NCBI Gene:79939, RefSeq DNA:NT_011295, RefSeq Protein:NP_079157, RefSeq RNA:NM_024881, UniProtKB:Q96K37 No chr19 16660648 16683193 16549837 16572382 +PA134958874 9906 HGNC:20863 ENSG00000215790 solute carrier family 35 member E2A SLC35E2A solute carrier family 35, member E2 KIAA0447, SLC35E2 Yes No Comparative Toxicogenomics Database:9906, Ensembl:ENSG00000215790, GeneCard:SLC35E2, HGNC:HGNC:20863, ModBase:Q5CZA4, NCBI Gene:9906, RefSeq DNA:NT_004350, RefSeq Protein:NP_001186716, RefSeq Protein:NP_878258, RefSeq RNA:NM_001199787, RefSeq RNA:NM_182838, UniProtKB:Q5CZA4 No chr1 1656277 1677438 1724838 1745999 +PA165752386 728661 HGNC:33941 ENSG00000189339 solute carrier family 35 member E2B SLC35E2B solute carrier family 35, member E2B Yes No Ensembl:ENSG00000189339, GeneCard:SLC35E2B, HGNC:HGNC:33941, NCBI Gene:728661, RefSeq DNA:NT_004350, RefSeq Protein:NP_001104251, RefSeq RNA:NM_001110781 No chr1 1591486 1624243 1661478 1692804 +PA128394684 55508 HGNC:20864 ENSG00000175782 solute carrier family 35 member E3 SLC35E3 solute carrier family 35, member E3 BLOV1 Yes No Ensembl:ENSG00000175782, GeneCard:SLC35E3, HGNC:HGNC:20864, HumanCyc Gene:HS16513, ModBase:Q7Z769, NCBI Gene:55508, RefSeq DNA:NT_029419, RefSeq Protein:NP_061126, RefSeq RNA:NM_018656, UCSC Genome Browser:NM_018656, UniProtKB:Q7Z769 No chr12 69139910 69159853 68746148 68768677 +PA134883803 339665 HGNC:17058 ENSG00000100036 solute carrier family 35 member E4 SLC35E4 solute carrier family 35, member E4 Yes No Comparative Toxicogenomics Database:339665, Ensembl:ENSG00000100036, GeneCard:SLC35E4, HGNC:HGNC:17058, ModBase:Q6ICL7, NCBI Gene:339665, RefSeq DNA:NT_011520, RefSeq Protein:NP_001001479, RefSeq RNA:NM_001001479, UniProtKB:Q6ICL7 No chr22 31031793 31043862 30634148 30669016 +PA134985447 222553 HGNC:21483 ENSG00000196376 solute carrier family 35 member F1 SLC35F1 solute carrier family 35, member F1 C6orf169, dJ230I3.1 Yes No Ensembl:ENSG00000196376, GeneCard:SLC35F1, HGNC:HGNC:21483, NCBI Gene:222553, RefSeq DNA:NT_025741, RefSeq Protein:NP_001025029, RefSeq RNA:NM_001029858, UniProtKB:Q5T1Q4 No chr6 118228689 118638839 117907226 118317676 +PA134945023 54733 HGNC:23615 ENSG00000110660 solute carrier family 35 member F2 SLC35F2 solute carrier family 35, member F2 FLJ13018 Yes No Ensembl:ENSG00000110660, GeneCard:SLC35F2, HGNC:HGNC:23615, HumanCyc Gene:HS03324, ModBase:Q8IXU6, NCBI Gene:54733, RefSeq DNA:NT_033899, RefSeq Protein:NP_059985, RefSeq RNA:NM_017515, UniProtKB:Q8IXU6 No chr11 107661717 107729914 107790991 107859188 +PA134938022 148641 HGNC:23616 ENSG00000183780 solute carrier family 35 member F3 SLC35F3 solute carrier family 35, member F3 FLJ37712 Yes No Comparative Toxicogenomics Database:148641, Ensembl:ENSG00000183780, GeneCard:SLC35F3, HGNC:HGNC:23616, ModBase:Q8IY50, NCBI Gene:148641, RefSeq DNA:NT_167186, RefSeq Protein:NP_775779, RefSeq RNA:NM_173508, UniProtKB:Q8IY50 No chr1 234040679 234460262 233904712 234324518 +PA134959551 341880 HGNC:19845 ENSG00000151812 solute carrier family 35 member F4 SLC35F4 solute carrier family 35, member F4 C14orf36, FLJ37712 Yes Yes Comparative Toxicogenomics Database:341880, Ensembl:ENSG00000151812, GeneCard:SLC35F4, HGNC:HGNC:19845, ModBase:A4IF30, NCBI Gene:341880, RefSeq DNA:NT_026437, RefSeq Protein:NP_001073924, RefSeq Protein:NP_001193849, RefSeq RNA:NM_001080455, RefSeq RNA:NM_001206920, UniProtKB:A4IF30 No chr14 58030640 58332592 57563922 57982329 +PA134953009 80255 HGNC:23617 ENSG00000115084 solute carrier family 35 member F5 SLC35F5 solute carrier family 35, member F5 FLJ22004 Yes No Comparative Toxicogenomics Database:80255, Ensembl:ENSG00000115084, GeneCard:SLC35F5, HGNC:HGNC:23617, HumanCyc Gene:HS12832, ModBase:Q8WV83, NCBI Gene:80255, RefSeq DNA:NT_022135, RefSeq Protein:NP_079457, RefSeq RNA:NM_025181, UniProtKB:Q8WV83 No chr2 114471354 114514400 113702677 113756823 +PA134913368 54978 HGNC:26055 ENSG00000213699 solute carrier family 35 member F6 SLC35F6 """ANT2-binding protein"", ""solute carrier family 35, member F6"", ""transport and golgi organization 9 homolog (Drosophila)""" ANT2BP, C2orf18, FLJ20555, TANGO9 Yes No Ensembl:ENSG00000213699, GeneCard:C2orf18, HGNC:HGNC:26055, ModBase:Q8N357, NCBI Gene:54978, RefSeq DNA:NT_022184, RefSeq Protein:NP_060347, RefSeq RNA:NM_017877, UniProtKB:Q8N357 No chr2 26987131 27004099 26764274 26781231 +PA134933626 159371 HGNC:26607 ENSG00000176273 solute carrier family 35 member G1 SLC35G1 """partner of STIM1"", ""solute carrier family 35, member G1""" C10orf60, FLJ33990, POST, TMEM20 Yes No Ensembl:ENSG00000176273, GeneCard:TMEM20, HGNC:HGNC:26607, HumanCyc Gene:HS11029, NCBI Gene:159371, RefSeq DNA:NT_030059, RefSeq Protein:NP_001128130, RefSeq Protein:NP_694958, RefSeq RNA:NM_001134658, RefSeq RNA:NM_153226, UniProtKB:Q2M3R5 No chr10 95653730 95663581 93893951 93914265 +PA134946375 80723 HGNC:28480 ENSG00000168917 solute carrier family 35 member G2 SLC35G2 solute carrier family 35, member G2 DKFZp564K2464, MGC3295, TMEM22 Yes No Comparative Toxicogenomics Database:80723, Ensembl:ENSG00000168917, GeneCard:TMEM22, HGNC:HGNC:28480, HumanCyc Gene:HS09848, NCBI Gene:80723, RefSeq DNA:NT_005612, RefSeq Protein:NP_001091068, RefSeq Protein:NP_001091069, RefSeq Protein:NP_079522, RefSeq RNA:NM_001097599, RefSeq RNA:NM_001097600, RefSeq RNA:NM_025246, UniProtKB:Q8TBE7 No chr3 136537861 136574734 136819019 136855892 +PA134902447 146861 HGNC:26848 ENSG00000164729 solute carrier family 35 member G3 SLC35G3 solute carrier family 35, member G3 AMAC1, FLJ40154, TMEM21A Yes No Comparative Toxicogenomics Database:146861, Ensembl:ENSG00000164729, GeneCard:AMAC1, HGNC:HGNC:26848, HumanCyc Gene:HS16802, ModBase:Q8N808, NCBI Gene:146861, RefSeq DNA:NT_010799, RefSeq Protein:NP_689675, RefSeq RNA:NM_152462, UniProtKB:Q8N808 No chr17 33519539 33521412 35192520 35194393 +PA134875980 646000 HGNC:31043 ENSG00000236396 solute carrier family 35 member G4 SLC35G4 solute carrier family 35, member G4 AMAC1L1, SLC35G4P Yes No Ensembl:ENSG00000236396, GeneCard:SLC35G4, HGNC:HGNC:31043, ModBase:P0C7Q5, NCBI Gene:646000, RefSeq DNA:NT_010859, RefSeq Protein:XP_001720922, RefSeq Protein:XP_934053, RefSeq RNA:XM_001720870, RefSeq RNA:XM_928960, UniProtKB:P0C7Q5 No chr18 11609557 11610611 11609558 11610612 +PA24756 83650 HGNC:15546 ENSG00000177710 solute carrier family 35 member G5 SLC35G5 solute carrier family 35, member G5 AMAC, AMAC1L2 Yes No Ensembl:ENSG00000177710, GenAtlas:AMAC1L2, GeneCard:AMAC1L2, HGNC:HGNC:15546, HumanCyc Gene:HS09124, ModBase:Q96KT7, NCBI Gene:83650, RefSeq DNA:NT_077531, RefSeq Protein:NP_473369, RefSeq RNA:NM_054028, UCSC Genome Browser:NM_054028, UniProtKB:Q96KT7 No chr8 11188495 11189695 11330986 11332186 +PA134919830 643664 HGNC:31351 ENSG00000231260, ENSG00000259224 solute carrier family 35 member G6 SLC35G6 solute carrier family 35, member G6 AMAC1L3, TMEM21B Yes No Ensembl:ENSG00000231260, Ensembl:ENSG00000259224, GeneCard:SLC35G6, HGNC:HGNC:31351, ModBase:P0C7Q6, NCBI Gene:643664, RefSeq DNA:NT_010718, RefSeq Protein:NP_001096084, RefSeq RNA:NM_001102614, UniProtKB:P0C7Q6 No chr17 7370504 7386383 7481402 7483064 +PA134870308 206358 HGNC:18761 ENSG00000123643 solute carrier family 36 member 1 SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1 LYAAT-1, PAT1, TRAMD3 Yes No Comparative Toxicogenomics Database:206358, Ensembl:ENSG00000123643, GeneCard:SLC36A1, HGNC:HGNC:18761, HumanCyc Gene:HS04682, ModBase:Q7Z2H8, NCBI Gene:206358, OMIM:606561, RefSeq DNA:NT_029289, RefSeq Protein:NP_510968, RefSeq RNA:NM_078483, UniProtKB:Q1LZ56, UniProtKB:Q7Z2H8 No chr5 150816553 150871940 151411344 151556318 +PA134899820 153201 HGNC:18762 ENSG00000186335 solute carrier family 36 member 2 SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2 PAT2, TRAMD1, tramdorin Yes No Comparative Toxicogenomics Database:153201, Ensembl:ENSG00000186335, GeneCard:SLC36A2, HGNC:HGNC:18762, ModBase:Q495M3, NCBI Gene:153201, OMIM:138500, OMIM:242600, OMIM:608331, RefSeq DNA:NT_029289, RefSeq Protein:NP_861441, RefSeq RNA:NM_181776, UniProtKB:Q495M3 No chr5 150694539 150727151 151314978 151347590 +PA134875494 285641 HGNC:19659 ENSG00000186334 solute carrier family 36 member 3 SLC36A3 """solute carrier family 36 (proton/amino acid symporter), member 3"", ""solute carrier family 36, member 3""" PAT3, TRAMD2, tramdorin2 Yes No Ensembl:ENSG00000186334, GeneCard:SLC36A3, HGNC:HGNC:19659, ModBase:Q495N2, NCBI Gene:285641, OMIM:608332, RefSeq DNA:NT_029289, RefSeq Protein:NP_001138489, RefSeq Protein:NP_861439, RefSeq RNA:NM_001145017, RefSeq RNA:NM_181774, UniProtKB:Q495N2 No chr5 150655926 150683334 151276365 151303773 +PA134908925 120103 HGNC:19660 ENSG00000180773 solute carrier family 36 member 4 SLC36A4 solute carrier family 36 (proton/amino acid symporter), member 4 FLJ38932, PAT4 Yes No Ensembl:ENSG00000180773, GeneCard:SLC36A4, HGNC:HGNC:19660, HumanCyc Gene:HS11528, ModBase:Q6YBV0, NCBI Gene:120103, RefSeq DNA:NT_167190, RefSeq Protein:NP_689526, RefSeq RNA:NM_152313, UniProtKB:Q6YBV0 No chr11 92880850 92931095 93144171 93197983 +PA35892 54020 HGNC:11024 ENSG00000160190 solute carrier family 37 member 1 SLC37A1 """solute carrier family 37 (glucose-6-phosphate transporter), member 1"", ""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"", ""sugar-phosphate exchange protein 1""" SPX1 Yes Yes Comparative Toxicogenomics Database:54020, Ensembl:ENSG00000160190, GenAtlas:SLC37A1, GeneCard:SLC37A1, HGNC:HGNC:11024, HumanCyc Gene:HS08456, ModBase:P57057, NCBI Gene:54020, OMIM:608094, RefSeq DNA:NT_011515, RefSeq Protein:NP_061837, RefSeq RNA:NM_018964, UCSC Genome Browser:NM_018964, UniProtKB:P57057 No chr21 43919742 44001550 42499632 42581440 +PA134917577 219855 HGNC:20644 ENSG00000134955 solute carrier family 37 member 2 SLC37A2 """solute carrier family 37 (glucose-6-phosphate transporter), member 2"", ""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"", ""sugar-phosphate exchange protein 2""" FLJ00171, SPX2 Yes No Ensembl:ENSG00000134955, GeneCard:SLC37A2, HGNC:HGNC:20644, ModBase:Q8TED4, NCBI Gene:219855, RefSeq DNA:NT_033899, RefSeq Protein:NP_001138762, RefSeq Protein:NP_938018, RefSeq RNA:NM_001145290, RefSeq RNA:NM_198277, UniProtKB:Q8TED4 No chr11 124932963 124960412 125063067 125090516 +PA134895240 84255 HGNC:20651 ENSG00000157800 solute carrier family 37 member 3 SLC37A3 """solute carrier family 37 (glycerol-3-phosphate transporter), member 3"", ""solute carrier family 37, member 3"", ""sugar-phosphate exchange protein 3""" DKFZp761N0624, SPX3 Yes No Comparative Toxicogenomics Database:84255, Ensembl:ENSG00000157800, GeneCard:SLC37A3, HGNC:HGNC:20651, HumanCyc Gene:HS14678, ModBase:Q8NCC5, NCBI Gene:84255, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_115671, RefSeq Protein:NP_996996, RefSeq RNA:NM_032295, RefSeq RNA:NM_207113, UniProtKB:Q8NCC5 No chr7 140033552 140104024 140333752 140404352 +PA28472 2542 HGNC:4061 ENSG00000137700 solute carrier family 37 member 4 SLC37A4 """Glucose-6-phosphate exchanger SLC37A4"", ""glucose-6-phosphatase transporter"", ""solute carrier family 37 (glucose-6-phosphate transporter), member 4"", ""sugar-phosphate exchange protein 4""" G6PT, G6PT1, G6PT2, G6PT3, GSD1b, GSD1c, GSD1d, SPX4 Yes No Comparative Toxicogenomics Database:2542, Ensembl:ENSG00000137700, GeneCard:SLC37A4, HGNC:HGNC:4061, HumanCyc Gene:HS06376, ModBase:O43826, NCBI Gene:2542, OMIM:232220, OMIM:232240, OMIM:602671, RefSeq DNA:NG_013331, RefSeq DNA:NT_033899, RefSeq Protein:NP_001157749, RefSeq Protein:NP_001157750, RefSeq Protein:NP_001157751, RefSeq Protein:NP_001157752, RefSeq Protein:NP_001458, RefSeq RNA:NM_001164277, RefSeq RNA:NM_001164278, RefSeq RNA:NM_001164279, RefSeq RNA:NM_001164280, RefSeq RNA:NM_001467, UCSC Genome Browser:NM_001467, UniProtKB:A8K0S7, UniProtKB:B4DUH2, UniProtKB:O43826 No chr11 118895061 118901616 119024351 119030906 +PA37772 81539 HGNC:13447 ENSG00000111371 solute carrier family 38 member 1 SLC38A1 """Sodium-coupled neutral amino acid transporter 1"", ""solute carrier family 38, member 1""" ATA1, NAT2, SAT1, SNAT1 Yes No Comparative Toxicogenomics Database:81539, Ensembl:ENSG00000111371, GenAtlas:SLC38A1, GeneCard:SLC38A1, HGNC:HGNC:13447, HumanCyc Gene:HS03413, ModBase:Q9H2H9, NCBI Gene:81539, OMIM:608490, RefSeq DNA:NT_029419, RefSeq Protein:NP_001070952, RefSeq Protein:NP_109599, RefSeq RNA:NM_001077484, RefSeq RNA:NM_030674, UCSC Genome Browser:NM_030674, UniProtKB:Q9H2H9 No chr12 46576838 46663208 46183055 46269425 +PA162403738 124565 HGNC:28237 ENSG00000157637 solute carrier family 38 member 10 SLC38A10 """Sodium-coupled neutral amino acid transporter 10"", ""solute carrier family 38, member 10""" MGC15523, PP1744, SNAT10 Yes No Ensembl:ENSG00000157637, GeneCard:SLC38A10, HGNC:HGNC:28237, HumanCyc Gene:HS08231, ModBase:Q9HBR0, NCBI Gene:124565, RefSeq DNA:NT_010783, RefSeq Protein:NP_001033073, RefSeq Protein:NP_612637, RefSeq RNA:NM_001037984, RefSeq RNA:NM_138570, UniProtKB:Q9HBR0 No chr17 79218799 79269233 81244811 81295433 +PA162403771 151258 HGNC:26836 ENSG00000169507 solute carrier family 38 member 11 SLC38A11 solute carrier family 38, member 11 AVT2, FLJ39822 Yes No Ensembl:ENSG00000169507, GeneCard:SLC38A11, HGNC:HGNC:26836, HumanCyc Gene:HS09961, NCBI Gene:151258, RefSeq DNA:NT_005403, RefSeq Protein:NP_001186077, RefSeq Protein:NP_775783, RefSeq RNA:NM_001199148, RefSeq RNA:NM_173512, UniProtKB:Q08AI6 No chr2 165754709 165812035 164897745 164955721 +PA37773 54407 HGNC:13448 ENSG00000134294 solute carrier family 38 member 2 SLC38A2 """Sodium-coupled neutral amino acid transporter 2"", ""solute carrier family 38, member 2""" ATA2, KIAA1382, SAT2, SNAT2 Yes No Comparative Toxicogenomics Database:54407, Ensembl:ENSG00000134294, GenAtlas:SLC38A2, GeneCard:SLC38A2, HGNC:HGNC:13448, HumanCyc Gene:HS05853, ModBase:Q96QD8, NCBI Gene:54407, OMIM:605180, RefSeq DNA:NT_029419, RefSeq Protein:NP_061849, RefSeq RNA:NM_018976, UCSC Genome Browser:NM_018976, UniProtKB:Q96QD8 No chr12 46751971 46766645 46358188 46372862 +PA38281 10991 HGNC:18044 ENSG00000188338 solute carrier family 38 member 3 SLC38A3 """Sodium-coupled neutral amino acid transporter 3"", ""solute carrier family 38, member 3""" G17, SN1, SNAT3 Yes No Comparative Toxicogenomics Database:10991, Ensembl:ENSG00000188338, GenAtlas:SLC38A3, GeneCard:SLC38A3, HGNC:HGNC:18044, HumanCyc Gene:HS07227, ModBase:Q99624, NCBI Gene:10991, OMIM:604437, RefSeq DNA:NT_022517, RefSeq Protein:NP_006832, RefSeq RNA:NM_006841, UCSC Genome Browser:NM_006841, UniProtKB:Q99624 No chr3 50242692 50258406 50205246 50220979 +PA37908 55089 HGNC:14679 ENSG00000139209 solute carrier family 38 member 4 SLC38A4 """Sodium-coupled neutral amino acid transporter 4"", ""solute carrier family 38, member 4""" ATA3, NAT3, PAAT, SNAT4 Yes No Comparative Toxicogenomics Database:55089, Ensembl:ENSG00000139209, GenAtlas:SLC38A4, GeneCard:SLC38A4, HGNC:HGNC:14679, HumanCyc Gene:HS06596, ModBase:Q969I6, NCBI Gene:55089, OMIM:608065, RefSeq DNA:NT_029419, RefSeq Protein:NP_001137296, RefSeq Protein:NP_060488, RefSeq RNA:NM_001143824, RefSeq RNA:NM_018018, UCSC Genome Browser:NM_018018, UniProtKB:Q969I6 No chr12 47158544 47226205 46764761 46832422 +PA38289 92745 HGNC:18070 ENSG00000017483 solute carrier family 38 member 5 SLC38A5 """Sodium-coupled neutral amino acid transporter 5"", ""solute carrier family 38, member 5""" JM24, SN2, SNAT5 Yes No Ensembl:ENSG00000017483, GenAtlas:SLC38A5, GeneCard:SLC38A5, HGNC:HGNC:18070, HumanCyc Gene:HS00382, ModBase:Q8WUX1, NCBI Gene:92745, OMIM:300649, RefSeq DNA:NG_021469, RefSeq DNA:NT_079573, RefSeq Protein:NP_277053, RefSeq RNA:NM_033518, UCSC Genome Browser:NM_033518, UniProtKB:Q8WUX1 No chrX 48316927 48328644 48458537 48470256 +PA134932150 145389 HGNC:19863 ENSG00000139974 solute carrier family 38 member 6 SLC38A6 """Sodium-coupled neutral amino acid transporter 6"", ""solute carrier family 38, member 6""" NAT-1, SNAT6 Yes No Comparative Toxicogenomics Database:145389, Ensembl:ENSG00000139974, GeneCard:SLC38A6, HGNC:HGNC:19863, HumanCyc Gene:HS13808, ModBase:Q8IZM9, NCBI Gene:145389, RefSeq DNA:NT_026437, RefSeq Protein:NP_001166173, RefSeq Protein:NP_722518, RefSeq RNA:NM_001172702, RefSeq RNA:NM_153811, RefSeq RNA:NR_033344, UniProtKB:C9JWA6, UniProtKB:Q8IZM9 No chr14 61447832 61550451 60981114 61083733 +PA162403772 55238 HGNC:25582 ENSG00000103042 solute carrier family 38 member 7 SLC38A7 """Sodium-coupled neutral amino acid transporter 7"", ""solute carrier family 38, member 7""" FLJ10815, SNAT7 Yes No Ensembl:ENSG00000103042, GeneCard:SLC38A7, HGNC:HGNC:25582, HumanCyc Gene:HS02445, ModBase:Q9NVC3, NCBI Gene:55238, RefSeq DNA:NT_010498, RefSeq Protein:NP_060701, RefSeq RNA:NM_018231, UniProtKB:Q9NVC3 No chr16 58700298 58718674 58665109 58684777 +PA162403773 146167 HGNC:32434 ENSG00000166558 solute carrier family 38 member 8 SLC38A8 """Putative sodium-coupled neutral amino acid transporter 8"", ""solute carrier family 38, member 8""" SNAT8 Yes No Ensembl:ENSG00000166558, GeneCard:SLC38A8, HGNC:HGNC:32434, ModBase:A6NNN8, NCBI Gene:146167, RefSeq DNA:NT_010498, RefSeq Protein:NP_001073911, RefSeq RNA:NM_001080442, UniProtKB:A6NNN8 No chr16 84043389 84075762 84009667 84043372 +PA162403774 153129 HGNC:26907 ENSG00000177058 solute carrier family 38 member 9 SLC38A9 """Sodium-coupled neutral amino acid transporter 9"", ""solute carrier family 38, member 9""" FLJ90709, SNAT9 Yes No Ensembl:ENSG00000177058, GeneCard:SLC38A9, HGNC:HGNC:26907, HumanCyc Gene:HS11122, ModBase:Q8NBW4, NCBI Gene:153129, RefSeq DNA:NT_006713, RefSeq Protein:NP_775785, RefSeq RNA:NM_173514, UniProtKB:Q8NBW4 No chr5 54921673 55008163 55625845 55712344 +PA37465 27173 HGNC:12876 ENSG00000143570 solute carrier family 39 member 1 SLC39A1 """ZRT/IRT-like protein 1"", ""solute carrier family 39 (zinc transporter), member 1"", ""zinc transporter 1""" ZIP1, ZIRTL Yes No Comparative Toxicogenomics Database:27173, Ensembl:ENSG00000143570, GenAtlas:SLC39A1, GeneCard:SLC39A1, HGNC:HGNC:12876, HumanCyc Gene:HS07079, ModBase:Q9NY26, NCBI Gene:27173, OMIM:604740, RefSeq DNA:NT_004487, RefSeq Protein:NP_055252, RefSeq RNA:NM_014437, UCSC Genome Browser:NM_014437, UniProtKB:Q5T4K1, UniProtKB:Q9NY26 No chr1 153931575 153940660 153959099 153968184 +PA134944068 57181 HGNC:20861 ENSG00000196950 solute carrier family 39 member 10 SLC39A10 """ZRT/IRT-like protein 10"", ""solute carrier family 39 (zinc transporter), member 10"", ""zinc transporter 10""" DKFZp564L2123, FLJ90515, KIAA1265, ZIP10 Yes Yes Comparative Toxicogenomics Database:57181, Ensembl:ENSG00000196950, GeneCard:SLC39A10, HGNC:HGNC:20861, ModBase:Q9ULF5, NCBI Gene:57181, OMIM:608733, RefSeq DNA:NT_005403, RefSeq Protein:NP_001120729, RefSeq Protein:NP_065075, RefSeq RNA:NM_001127257, RefSeq RNA:NM_020342, UniProtKB:Q05C42, UniProtKB:Q9ULF5 No chr2 196477798 196602426 195575949 195737702 +PA25581 201266 HGNC:14463 ENSG00000133195 solute carrier family 39 member 11 SLC39A11 """ZRT/IRT-like protein 11"", ""solute carrier family 39 (metal ion transporter), member 11"", ""solute carrier family 39, member 11"", ""zinc transporter 11""" C17orf26, ZIP11 Yes No Comparative Toxicogenomics Database:201266, Ensembl:ENSG00000133195, GenAtlas:SLC39A11, GeneCard:SLC39A11, HGNC:HGNC:14463, HumanCyc Gene:HS05747, NCBI Gene:201266, RefSeq DNA:NT_010783, RefSeq Protein:NP_001153242, RefSeq Protein:NP_631916, RefSeq RNA:NM_001159770, RefSeq RNA:NM_139177, UCSC Genome Browser:NM_139177, UniProtKB:Q8N1S5 No chr17 70642085 71088853 72645946 73092714 +PA134956205 221074 HGNC:20860 ENSG00000148482 solute carrier family 39 member 12 SLC39A12 """ZRT/IRT-like protein 12"", ""solute carrier family 39 (zinc transporter), member 12"", ""zinc transporter 12""" FLJ30499, ZIP12 Yes No Comparative Toxicogenomics Database:221074, Ensembl:ENSG00000148482, GeneCard:SLC39A12, HGNC:HGNC:20860, HumanCyc Gene:HS07532, NCBI Gene:221074, OMIM:608734, RefSeq DNA:NT_008705, RefSeq Protein:NP_001138667, RefSeq Protein:NP_689938, RefSeq RNA:NM_001145195, RefSeq RNA:NM_152725, UniProtKB:Q504Y0 No chr10 18240768 18332221 17951839 18043292 +PA134948414 91252 HGNC:20859 ENSG00000165915 solute carrier family 39 member 13 SLC39A13 """LIV-1 subfamily of ZIP zinc transporters human member 9"", ""ZRT/IRT-like protein 13"", ""Zinc transporter ZIP13"", ""solute carrier family 39 (zinc transporter), member 13"", ""zinc transporter 13""" FLJ25785, LZT-Hs9, ZIP-13, ZIP13 Yes No Comparative Toxicogenomics Database:91252, Ensembl:ENSG00000165915, GeneCard:SLC39A13, HGNC:HGNC:20859, HumanCyc Gene:HS09301, NCBI Gene:91252, OMIM:608735, OMIM:612350, RefSeq DNA:NG_017073, RefSeq DNA:NT_009237, RefSeq Protein:NP_001121697, RefSeq Protein:NP_689477, RefSeq RNA:NM_001128225, RefSeq RNA:NM_152264, UniProtKB:Q96H72 No chr11 47428683 47438051 47407132 47416500 +PA134863701 23516 HGNC:20858 ENSG00000104635 solute carrier family 39 member 14 SLC39A14 """Metal cation symporter ZIP14"", ""ZRT/IRT-like protein 14"", ""solute carrier family 39 (zinc transporter), member 14"", ""zinc transporter 14""" KIAA0062, NET34, ZIP-14, ZIP14 Yes Yes Comparative Toxicogenomics Database:23516, Ensembl:ENSG00000104635, GeneCard:SLC39A14, HGNC:HGNC:20858, NCBI Gene:23516, OMIM:608736, RefSeq DNA:NT_167187, RefSeq Protein:NP_001121903, RefSeq Protein:NP_001128625, RefSeq Protein:NP_001128626, RefSeq Protein:NP_056174, RefSeq RNA:NM_001128431, RefSeq RNA:NM_001135153, RefSeq RNA:NM_001135154, RefSeq RNA:NM_015359, UniProtKB:B4DIW3, UniProtKB:B6EU88, UniProtKB:Q15043 No chr8 22224762 22291642 22367249 22434129 +PA38202 29986 HGNC:17127 ENSG00000165794 solute carrier family 39 member 2 SLC39A2 """ZRT/IRT-like protein 2"", ""solute carrier family 39 (zinc transporter), member 2"", ""zinc transporter 2""" ZIP2 Yes No Comparative Toxicogenomics Database:29986, Ensembl:ENSG00000165794, GenAtlas:SLC39A2, GeneCard:SLC39A2, HGNC:HGNC:17127, HumanCyc Gene:HS09284, NCBI Gene:29986, OMIM:612166, RefSeq DNA:NG_017065, RefSeq DNA:NT_026437, RefSeq Protein:NP_055394, RefSeq RNA:NM_014579, RefSeq RNA:NR_033419, UCSC Genome Browser:NM_014579, UniProtKB:Q9NP94 No chr14 21467414 21470034 20999255 21001875 +PA38203 29985 HGNC:17128 ENSG00000141873 solute carrier family 39 member 3 SLC39A3 """ZRT/IRT-like protein 3"", ""solute carrier family 39 (zinc transporter), member 3"", ""zinc transporter 3""" ZIP3 Yes No Comparative Toxicogenomics Database:29985, Ensembl:ENSG00000141873, GenAtlas:SLC39A3, GeneCard:SLC39A3, HGNC:HGNC:17128, HumanCyc Gene:HS06875, ModBase:Q9BRY0, NCBI Gene:29985, OMIM:612168, RefSeq DNA:NT_011255, RefSeq Protein:NP_653165, RefSeq Protein:NP_998733, RefSeq RNA:NM_144564, RefSeq RNA:NM_213568, UCSC Genome Browser:NM_144564, UniProtKB:Q9BRY0 No chr19 2729925 2740074 2732524 2740076 +PA38204 55630 HGNC:17129 ENSG00000147804 solute carrier family 39 member 4 SLC39A4 """ZRT/IRT-like protein 4"", ""Zinc transporter ZIP4"", ""solute carrier family 39 (zinc transporter), member 4"", ""zinc transporter 4""" AEZ, AWMS2, ZIP-4, ZIP4 Yes No Comparative Toxicogenomics Database:55630, Ensembl:ENSG00000147804, GenAtlas:SLC39A4, GeneCard:SLC39A4, HGNC:HGNC:17129, HumanCyc Gene:HS07470, NCBI Gene:55630, OMIM:201100, OMIM:607059, RefSeq DNA:NG_012234, RefSeq DNA:NT_037704, RefSeq Protein:NP_060237, RefSeq Protein:NP_570901, RefSeq RNA:NM_017767, RefSeq RNA:NM_130849, UCSC Genome Browser:NM_017767, UniProtKB:Q6P5W5 No chr8 145637798 145642279 144412414 144416895 +PA134872687 283375 HGNC:20502 ENSG00000139540 solute carrier family 39 member 5 SLC39A5 """ZRT/IRT-like protein 5"", ""solute carrier family 39 (metal ion transporter), member 5"", ""solute carrier family 39 (zinc transporter), member 5"", ""zinc transporter 5""" ZIP5 Yes No Comparative Toxicogenomics Database:283375, Ensembl:ENSG00000139540, GeneCard:SLC39A5, HGNC:HGNC:20502, HumanCyc Gene:HS13784, ModBase:Q6ZMH5, NCBI Gene:283375, OMIM:608730, RefSeq DNA:NT_029419, RefSeq Protein:NP_001128667, RefSeq Protein:NP_775867, RefSeq RNA:NM_001135195, RefSeq RNA:NM_173596, UniProtKB:Q6ZMH5 No chr12 56623820 56631630 56230036 56237846 +PA134905551 25800 HGNC:18607 ENSG00000141424 solute carrier family 39 member 6 SLC39A6 """ZRT/IRT-like protein 6"", ""solute carrier family 39 (zinc transporter), member 6"", ""zinc transporter 6""" LIV-1, ZIP6 Yes No Comparative Toxicogenomics Database:25800, Ensembl:ENSG00000141424, GeneCard:SLC39A6, HGNC:HGNC:18607, HumanCyc Gene:HS06824, NCBI Gene:25800, OMIM:608731, RefSeq DNA:NT_010966, RefSeq Protein:NP_001092876, RefSeq Protein:NP_036451, RefSeq RNA:NM_001099406, RefSeq RNA:NM_012319, UniProtKB:Q13433 No chr18 33688494 33709357 36108531 36129814 +PA29305 7922 HGNC:4927 ENSG00000112473, ENSG00000206288, ENSG00000224399, ENSG00000226614, ENSG00000227402, ENSG00000229802 solute carrier family 39 member 7 SLC39A7 """ZRT/IRT-like protein 7"", ""solute carrier family 39 (zinc transporter), member 7"", ""zinc transporter 7""" D6S2244E, H2-KE4, HKE4, KE4, RING5, ZIP7 Yes No Comparative Toxicogenomics Database:7922, Ensembl:ENSG00000112473, Ensembl:ENSG00000206288, Ensembl:ENSG00000224399, Ensembl:ENSG00000226614, Ensembl:ENSG00000227402, Ensembl:ENSG00000229802, GenAtlas:SLC39A7, GeneCard:SLC39A7, HGNC:HGNC:4927, HumanCyc Gene:HS03574, ModBase:Q92504, NCBI Gene:7922, OMIM:601416, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001070984, RefSeq Protein:NP_008910, RefSeq RNA:NM_001077516, RefSeq RNA:NM_006979, UCSC Genome Browser:NM_006979, UniProtKB:Q92504 No chr6 33168603 33172214 33200826 33204437 +PA134931507 64116 HGNC:20862 ENSG00000138821 solute carrier family 39 member 8 SLC39A8 """BCG-induced integral membrane protein in monocyte clone 103"", ""Metal cation symporter ZIP8"", ""ZRT/IRT-like protein 8"", ""Zinc transporter ZIP8"", ""solute carrier family 39 (zinc transporter), member 8""" BIGM103, ZIP-8, ZIP8 Yes Yes Comparative Toxicogenomics Database:64116, Ensembl:ENSG00000138821, GeneCard:SLC39A8, HGNC:HGNC:20862, HumanCyc Gene:HS06570, ModBase:Q9C0K1, NCBI Gene:64116, OMIM:608732, RefSeq DNA:NT_016354, RefSeq Protein:NP_001128618, RefSeq Protein:NP_001128619, RefSeq Protein:NP_001128620, RefSeq Protein:NP_071437, RefSeq RNA:NM_001135146, RefSeq RNA:NM_001135147, RefSeq RNA:NM_001135148, RefSeq RNA:NM_022154, UniProtKB:B4E2H3, UniProtKB:Q9C0K1 No chr4 103172198 103266655 102251041 102345498 +PA134889179 55334 HGNC:20182 ENSG00000029364 solute carrier family 39 member 9 SLC39A9 """ZRT/IRT-like protein 9"", ""solute carrier family 39 (zinc transporter), member 9"", ""solute carrier family 39, member 9"", ""zinc transporter 9""" FLJ11274, ZIP9 Yes No Comparative Toxicogenomics Database:55334, Ensembl:ENSG00000029364, GeneCard:SLC39A9, HGNC:HGNC:20182, HumanCyc Gene:HS00469, ModBase:Q9NUM3, NCBI Gene:55334, RefSeq DNA:NT_026437, RefSeq Protein:NP_060845, RefSeq RNA:NM_018375, UniProtKB:C4N9M8, UniProtKB:Q9NUM3 No chr14 69865096 69929107 69398379 69462390 +PA35893 6519 HGNC:11025 ENSG00000138079 solute carrier family 3 member 1 SLC3A1 """amino acid transporter 1"", ""neutral and basic amino acid transport protein rBAT"", ""solute carrier family 3 (amino acid transporter heavy chain), member 1"", ""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1""" ATR1, CSNU1, D2H, NBAT, RBAT Yes No Comparative Toxicogenomics Database:6519, Ensembl:ENSG00000138079, GenAtlas:SLC3A1, GeneCard:SLC3A1, HGNC:HGNC:11025, HumanCyc Gene:HS06450, ModBase:Q07837, NCBI Gene:6519, OMIM:104614, OMIM:220100, OMIM:606407, RefSeq DNA:NG_008233, RefSeq DNA:NT_022184, RefSeq Protein:NP_000332, RefSeq RNA:NM_000341, UCSC Genome Browser:NM_000341, UniProtKB:Q07837 No chr2 44502597 44547963 44275458 44320824 +PA35894 6520 HGNC:11026 ENSG00000168003 solute carrier family 3 member 2 SLC3A2 """4F2 cell-surface antigen heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""antigen defined by monoclonal antibody 4F2"", ""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"", ""monoclonal antibody 44D7"", ""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"", ""solute carrier family 3 (amino acid transporter heavy chain), member 2""" 4F2, 4F2HC, 4T2HC, CD98, CD98HC, MDU1, NACAE Yes No Comparative Toxicogenomics Database:6520, Ensembl:ENSG00000168003, GenAtlas:SLC3A2, GeneCard:SLC3A2, HGNC:HGNC:11026, HumanCyc Gene:HS09679, ModBase:P08195, NCBI Gene:6520, OMIM:158070, RefSeq DNA:NT_167190, RefSeq Protein:NP_001012679, RefSeq Protein:NP_001012680, RefSeq Protein:NP_001012681, RefSeq Protein:NP_001012682, RefSeq Protein:NP_001013269, RefSeq Protein:NP_002385, RefSeq RNA:NM_001012661, RefSeq RNA:NM_001012662, RefSeq RNA:NM_001012663, RefSeq RNA:NM_001012664, RefSeq RNA:NM_001013251, RefSeq RNA:NM_002394, RefSeq RNA:NR_037193, UCSC Genome Browser:NM_002394, UniProtKB:P08195 No chr11 62623484 62656355 62856012 62888883 +PA35805 30061 HGNC:10909 ENSG00000138449 solute carrier family 40 member 1 SLC40A1 """SLC40 iron transporter"", ""ferroportin 1"", ""iron regulated gene 1"", ""solute carrier family 40 (iron-regulated transporter), member 1""" FPN, FPN1, HFE4, IREG1, MTP1, SLC11A3 Yes No Comparative Toxicogenomics Database:30061, Ensembl:ENSG00000138449, GeneCard:SLC40A1, HGNC:HGNC:10909, HumanCyc Gene:HS06508, ModBase:Q9NP59, NCBI Gene:30061, OMIM:604653, OMIM:606069, RefSeq DNA:NG_009027, RefSeq DNA:NT_005403, RefSeq Protein:NP_055400, RefSeq RNA:NM_014585, UCSC Genome Browser:NM_014585, UniProtKB:Q6FI62, UniProtKB:Q9NP59 No chr2 190425316 190448478 189560590 189580811 +PA134889327 254428 HGNC:19429 ENSG00000133065 solute carrier family 41 member 1 SLC41A1 """solute carrier family 41 (magnesium transporter), member 1"", ""solute carrier family 41, member 1""" MgtE Yes No Comparative Toxicogenomics Database:254428, Ensembl:ENSG00000133065, GeneCard:SLC41A1, HGNC:HGNC:19429, HumanCyc Gene:HS13459, ModBase:Q8IVJ1, NCBI Gene:254428, OMIM:610801, RefSeq DNA:NT_004487, RefSeq Protein:NP_776253, RefSeq RNA:NM_173854, UniProtKB:B2RMP2, UniProtKB:B3KWH2, UniProtKB:Q8IVJ1 No chr1 205758221 205782887 205789093 205813759 +PA134931432 84102 HGNC:31045 ENSG00000136052 solute carrier family 41 member 2 SLC41A2 """solute carrier family 41 (magnesium transporter), member 2"", ""solute carrier family 41, member 2""" DKFZP434K0427 Yes No Comparative Toxicogenomics Database:84102, Ensembl:ENSG00000136052, GeneCard:SLC41A2, HGNC:HGNC:31045, HumanCyc Gene:HS06108, NCBI Gene:84102, OMIM:610802, RefSeq DNA:NT_029419, RefSeq Protein:NP_115524, RefSeq RNA:NM_032148, UniProtKB:Q96JW4 No chr12 105196331 105352476 104802553 104958744 +PA134878151 54946 HGNC:31046 ENSG00000114544 solute carrier family 41 member 3 SLC41A3 solute carrier family 41, member 3 FLJ20473 Yes No Comparative Toxicogenomics Database:54946, Ensembl:ENSG00000114544, GeneCard:SLC41A3, HGNC:HGNC:31046, HumanCyc Gene:HS03778, ModBase:Q96GZ6, NCBI Gene:54946, OMIM:610803, RefSeq DNA:NT_005612, RefSeq Protein:NP_001008485, RefSeq Protein:NP_001008486, RefSeq Protein:NP_001008487, RefSeq Protein:NP_001157947, RefSeq Protein:NP_060306, RefSeq RNA:NM_001008485, RefSeq RNA:NM_001008486, RefSeq RNA:NM_001008487, RefSeq RNA:NM_001164475, RefSeq RNA:NM_017836, UniProtKB:B7Z4Y2, UniProtKB:Q96GZ6 No chr3 125725200 125820398 126006357 126101550 +PA33549 8501 HGNC:9225 ENSG00000149150 solute carrier family 43 member 1 SLC43A1 """solute carrier family 43 (amino acid system L transporter), member 1"", ""solute carrier family 43, member 1""" PB39, POV1, R00504 Yes No Comparative Toxicogenomics Database:8501, Ensembl:ENSG00000149150, GeneCard:SLC43A1, HGNC:HGNC:9225, HumanCyc Gene:HS07589, ModBase:O75387, NCBI Gene:8501, OMIM:603733, RefSeq DNA:NT_167190, RefSeq Protein:NP_001185739, RefSeq Protein:NP_003618, RefSeq RNA:NM_001198810, RefSeq RNA:NM_003627, UCSC Genome Browser:NM_003627, UniProtKB:O75387 No chr11 57252004 57283192 57484531 57515954 +PA134940765 124935 HGNC:23087 ENSG00000167703 solute carrier family 43 member 2 SLC43A2 """solute carrier family 43 (amino acid system L transporter), member 2"", ""solute carrier family 43, member 2""" MGC34680 Yes No Ensembl:ENSG00000167703, GeneCard:SLC43A2, HGNC:HGNC:23087, HumanCyc Gene:HS15590, ModBase:Q8N370, NCBI Gene:124935, OMIM:610791, RefSeq DNA:NT_010718, RefSeq Protein:NP_689559, RefSeq RNA:NM_152346, UniProtKB:Q8N370 No chr17 1477678 1532130 1569254 1630014 +PA134924689 29015 HGNC:17466 ENSG00000134802 solute carrier family 43 member 3 SLC43A3 """likely ortholog of mouse embryonic epithelial gene 1"", ""solute carrier family 43, member 3""" DKFZp762A227, Eeg1, FOAP-13, PRO1659, SEEEG-1 Yes No Comparative Toxicogenomics Database:29015, Ensembl:ENSG00000134802, GeneCard:SLC43A3, HGNC:HGNC:17466, ModBase:Q8NBI5, NCBI Gene:29015, RefSeq DNA:NT_167190, RefSeq Protein:NP_054815, RefSeq Protein:NP_060081, RefSeq Protein:NP_955361, RefSeq RNA:NM_014096, RefSeq RNA:NM_017611, RefSeq RNA:NM_199329, UniProtKB:Q8NBI5 No chr11 57174427 57195053 57406954 57427580 +PA134958011 23446 HGNC:18798 ENSG00000070214 solute carrier family 44 member 1 SLC44A1 """CDW92"", ""Choline transporter-like protein 1"", ""solute carrier family 44 (choline transporter), member 1"", ""solute carrier family 44, member 1""" CD92, CDw92, CHTL1, CTL1 Yes No Comparative Toxicogenomics Database:23446, Ensembl:ENSG00000070214, GeneCard:SLC44A1, HGNC:HGNC:18798, HumanCyc Gene:HS00990, ModBase:Q8WWI5, NCBI Gene:23446, OMIM:606105, RefSeq DNA:NT_008470, RefSeq Protein:NP_536856, RefSeq RNA:NM_080546, UniProtKB:Q8WWI5 No chr9 108006906 108200785 105244608 105438504 +PA142670899 57153 HGNC:17292 ENSG00000129353 solute carrier family 44 member 2 (CTL2 blood group) SLC44A2 """Choline transporter-like protein 2"", ""solute carrier family 44 (choline transporter), member 2"", ""solute carrier family 44 member 2"", ""solute carrier family 44, member 2""" CTL2 Yes No Comparative Toxicogenomics Database:57153, Ensembl:ENSG00000129353, GeneCard:SLC44A2, HGNC:HGNC:17292, HumanCyc Gene:HS05272, NCBI Gene:57153, OMIM:606106, RefSeq DNA:NT_011295, RefSeq Protein:NP_001138528, RefSeq Protein:NP_065161, RefSeq RNA:NM_001145056, RefSeq RNA:NM_020428, UniProtKB:B3KNH3, UniProtKB:Q8IWA5 No chr19 10713121 10755235 10602445 10644559 +PA142670900 126969 HGNC:28689 ENSG00000143036 solute carrier family 44 member 3 SLC44A3 solute carrier family 44, member 3 CTL3, MGC45474 Yes Yes Comparative Toxicogenomics Database:126969, Ensembl:ENSG00000143036, GeneCard:SLC44A3, HGNC:HGNC:28689, HumanCyc Gene:HS13946, NCBI Gene:126969, RefSeq DNA:NT_032977, RefSeq Protein:NP_001107578, RefSeq Protein:NP_689582, RefSeq RNA:NM_001114106, RefSeq RNA:NM_152369, UniProtKB:Q8N4M1 No chr1 95285898 95360803 94820342 94895247 +PA25930 80736 HGNC:13941 ENSG00000204385, ENSG00000206378, ENSG00000228263, ENSG00000231479 solute carrier family 44 member 4 SLC44A4 solute carrier family 44, member 4 C6orf29, CTL4, DFNA72, FLJ14491, NG22, TPPT Yes No Comparative Toxicogenomics Database:80736, Ensembl:ENSG00000204385, Ensembl:ENSG00000206378, Ensembl:ENSG00000228263, Ensembl:ENSG00000231479, GenAtlas:SLC44A4, GeneCard:SLC44A4, HGNC:HGNC:13941, HumanCyc Gene:HS03497, NCBI Gene:80736, OMIM:606107, RefSeq DNA:NG_023058, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001171515, RefSeq Protein:NP_001171516, RefSeq Protein:NP_079533, RefSeq RNA:NM_001178044, RefSeq RNA:NM_001178045, RefSeq RNA:NM_025257, UCSC Genome Browser:NM_025257, UniProtKB:B4DU94, UniProtKB:Q53GD3 No chr6 31830969 31846823 31863192 31879046 +PA142670901 204962 HGNC:28524 ENSG00000137968 solute carrier family 44 member 5 SLC44A5 solute carrier family 44, member 5 CTL5, MGC34032 Yes No Comparative Toxicogenomics Database:204962, Ensembl:ENSG00000137968, GeneCard:SLC44A5, HGNC:HGNC:28524, HumanCyc Gene:HS13705, ModBase:Q8NCS7, NCBI Gene:204962, RefSeq DNA:NT_032977, RefSeq Protein:NP_001123530, RefSeq Protein:NP_689910, RefSeq RNA:NM_001130058, RefSeq RNA:NM_152697, UniProtKB:Q8NCS7 No chr1 75667816 76081698 75202131 75724261 +PA134982862 50651 HGNC:17939 ENSG00000162426 solute carrier family 45 member 1 SLC45A1 """H+/sugar symporter"", ""solute carrier family 45, member 1""" DNB5 Yes No Ensembl:ENSG00000162426, GeneCard:SLC45A1, HGNC:HGNC:17939, ModBase:Q9Y2W3, NCBI Gene:50651, OMIM:605763, RefSeq DNA:NT_021937, RefSeq Protein:NP_001073866, RefSeq RNA:NM_001080397 No chr1 8378171 8404227 8318085 8344167 +PA134897756 51151 HGNC:16472 ENSG00000164175 solute carrier family 45 member 2 SLC45A2 """antigen in melanoma 1"", ""oculocutaneous albinism type 4"", ""solute carrier family 45, member 2""" AIM-1, MATP, OCA4 Yes No Comparative Toxicogenomics Database:51151, Ensembl:ENSG00000164175, GeneCard:SLC45A2, HGNC:HGNC:16472, HumanCyc Gene:HS09034, ModBase:Q9UMX9, NCBI Gene:51151, OMIM:227240, OMIM:606202, OMIM:606574, RefSeq DNA:NG_011691, RefSeq DNA:NT_006576, RefSeq Protein:NP_001012527, RefSeq Protein:NP_057264, RefSeq RNA:NM_001012509, RefSeq RNA:NM_016180, UniProtKB:Q6P2P0, UniProtKB:Q9UMX9 No chr5 33944721 33984780 33944616 33984675 +PA32981 85414 HGNC:8642 ENSG00000158715 solute carrier family 45 member 3 SLC45A3 solute carrier family 45, member 3 IPCA-2, IPCA-6, IPCA-8, PCANAP2, PCANAP6, PCANAP8, prostein Yes No Comparative Toxicogenomics Database:85414, Ensembl:ENSG00000158715, GenAtlas:SLC45A3, GeneCard:SLC45A3, HGNC:HGNC:8642, HumanCyc Gene:HS14731, ModBase:Q96JT2, NCBI Gene:85414, OMIM:605097, RefSeq DNA:NT_004487, RefSeq Protein:NP_149093, RefSeq RNA:NM_033102, UniProtKB:A8K2U9, UniProtKB:Q96JT2 No chr1 205626979 205649630 205657851 205680502 +PA142670902 57210 HGNC:29196 ENSG00000022567 solute carrier family 45 member 4 SLC45A4 solute carrier family 45, member 4 KIAA1126 Yes No Ensembl:ENSG00000022567, GeneCard:SLC45A4, HGNC:HGNC:29196, NCBI Gene:57210, RefSeq DNA:NT_008046, RefSeq Protein:NP_001073900, RefSeq RNA:NM_001080431, UniProtKB:C9JFW9 No chr8 142217273 142310241 141207166 141308321 +PA162403775 113235 HGNC:30521 ENSG00000076351 solute carrier family 46 member 1 SLC46A1 """heme carrier protein 1"", ""proton-coupled folate transporter"", ""solute carrier family 46 (folate transporter), member 1""" HCP1, HsPCFT, MGC9564, PCFT, hPCFT Yes No Ensembl:ENSG00000076351, GeneCard:SLC46A1, HGNC:HGNC:30521, HumanCyc Gene:HS01208, ModBase:Q96NT5, NCBI Gene:113235, OMIM:229050, OMIM:611672, RefSeq DNA:NG_013306, RefSeq DNA:NT_010799, RefSeq Protein:NP_001229295, RefSeq Protein:NP_542400, RefSeq RNA:NM_001242366, RefSeq RNA:NM_080669, UniProtKB:Q96NT5 No chr17 26721661 26733230 28394642 28406630 +PA162403790 57864 HGNC:16055 ENSG00000119457 solute carrier family 46 member 2 SLC46A2 solute carrier family 46, member 2 Ly110, TSCOT Yes No Ensembl:ENSG00000119457, GeneCard:SLC46A2, HGNC:HGNC:16055, HumanCyc Gene:HS04300, ModBase:Q9BY10, NCBI Gene:57864, OMIM:608956, RefSeq DNA:NT_008470, RefSeq Protein:NP_149040, RefSeq RNA:NM_033051, UniProtKB:B1ALK1, UniProtKB:Q9BY10 No chr9 115641200 115653193 112878920 112890981 +PA162403791 283537 HGNC:27501 ENSG00000139508 solute carrier family 46 member 3 SLC46A3 solute carrier family 46, member 3 DKFZp686A1775, FLJ42613 Yes No Ensembl:ENSG00000139508, GeneCard:SLC46A3, HGNC:HGNC:27501, ModBase:Q7Z3Q1, NCBI Gene:283537, RefSeq DNA:NT_024524, RefSeq Protein:NP_001129391, RefSeq Protein:NP_861450, RefSeq RNA:NM_001135919, RefSeq RNA:NM_181785, UniProtKB:Q7Z3Q1 No chr13 29274217 29293150 28700080 28719013 +PA162403808 55244 HGNC:25588 ENSG00000142494 solute carrier family 47 member 1 SLC47A1 """multidrug and toxin extrusion 1"", ""solute carrier family 47 (multidrug and toxin extrusion), member 1"", ""solute carrier family 47, member 1""" FLJ10847, MATE1 Yes Yes Ensembl:ENSG00000142494, GeneCard:SLC47A1, HGNC:HGNC:25588, HumanCyc Gene:HS13926, ModBase:Q96FL8, NCBI Gene:55244, OMIM:609832, RefSeq DNA:NT_010718, RefSeq Protein:NP_060712, RefSeq RNA:NM_018242, UniProtKB:Q96FL8 No chr17 19437167 19482346 19533854 19579033 +PA162403847 146802 HGNC:26439 ENSG00000180638 solute carrier family 47 member 2 SLC47A2 """multidrug and toxin extrusion 2"", ""solute carrier family 47 (multidrug and toxin extrusion), member 2"", ""solute carrier family 47, member 2""" FLJ31196, MATE2, MATE2-K Yes Yes Ensembl:ENSG00000180638, GeneCard:SLC47A2, HGNC:HGNC:26439, HumanCyc Gene:HS17539, ModBase:Q86VL8, NCBI Gene:146802, OMIM:609833, RefSeq DNA:NT_010718, RefSeq Protein:NP_001093116, RefSeq Protein:NP_690872, RefSeq RNA:NM_001099646, RefSeq RNA:NM_152908, UniProtKB:Q86VL8 No chr17 19581626 19622990 19678313 19718979 +PA164725837 55652 HGNC:26035 ENSG00000211584 solute carrier family 48 member 1 SLC48A1 solute carrier family 48 (heme transporter), member 1 FLJ20489, HRG1, hHRG-1 Yes No Ensembl:ENSG00000211584, GeneCard:SLC48A1, HGNC:HGNC:26035, NCBI Gene:55652, OMIM:612187, RefSeq DNA:NT_029419, RefSeq Protein:NP_060312, RefSeq RNA:NM_017842, UCSC Genome Browser:NM_017842, UniProtKB:Q6P1K1 No chr12 48152426 48176536 47753605 47782753 +PA143485534 84179 HGNC:26177 ENSG00000169026 solute carrier family 49 member 3 SLC49A3 major facilitator superfamily domain containing 7 FLJ22269, LP2561, MFSD7 Yes No Comparative Toxicogenomics Database:84179, Ensembl:ENSG00000169026, GeneCard:MFSD7, HGNC:HGNC:26177, HumanCyc Gene:HS15741, ModBase:Q6UXD7, NCBI Gene:84179, RefSeq DNA:NT_037622, RefSeq Protein:NP_115595, RefSeq RNA:NM_032219, UniProtKB:Q6UXD7 No chr4 669992 683257 676205 689468 +PA27341 84925 HGNC:16628 ENSG00000138463 solute carrier family 49 member 4 SLC49A4 disrupted in renal cancer protein 2, disrupted in renal carcinoma 2, renal cell carcinoma 4 DIRC2, FLJ14784, RCC4 Yes No Comparative Toxicogenomics Database:84925, Ensembl:ENSG00000138463, GenAtlas:DIRC2, GeneCard:DIRC2, HGNC:HGNC:16628, HumanCyc Gene:HS13728, ModBase:Q96SL1, NCBI Gene:84925, OMIM:144700, OMIM:602773, RefSeq DNA:NG_023324, RefSeq DNA:NT_005612, RefSeq Protein:NP_116228, RefSeq RNA:NM_032839, UCSC Genome Browser:NM_032839, UniProtKB:Q96SL1 No chr3 122513901 122599986 122795054 122892157 +PA35895 6521 HGNC:11027 ENSG00000004939 solute carrier family 4 member 1 (Diego blood group) SLC4A1 """Band 3 anion transport protein"", ""Froese blood group"", ""Swann blood group"", ""Wright blood group"", ""solute carrier family 4 (anion exchanger), member 1 (Diego blood group)"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)""" AE1, CD233, DI, EMPB3, EPB3, FR, RTA1A, SW, WD, WR Yes Yes Comparative Toxicogenomics Database:6521, Ensembl:ENSG00000004939, GenAtlas:SLC4A1, GeneCard:SLC4A1, HGNC:HGNC:11027, HumanCyc Gene:HS00118, ModBase:P02730, NCBI Gene:6521, OMIM:109270, OMIM:110500, OMIM:112010, OMIM:112050, OMIM:179800, OMIM:601550, OMIM:601551, OMIM:602722, OMIM:611162, OMIM:611590, OMIM:612653, RefSeq DNA:NG_007498, RefSeq DNA:NT_010783, RefSeq Protein:NP_000333, RefSeq RNA:NM_000342, UCSC Genome Browser:NM_000342, UniProtKB:P02730 No chr17 42325758 42351654 44248390 44268161 +PA37810 57282 HGNC:13811 ENSG00000144290 solute carrier family 4 member 10 SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 NBCn2, NCBE Yes No Ensembl:ENSG00000144290, GenAtlas:SLC4A10, GeneCard:SLC4A10, HGNC:HGNC:13811, HumanCyc Gene:HS07164, ModBase:Q6U841, NCBI Gene:57282, OMIM:605556, RefSeq DNA:NG_021401, RefSeq DNA:NT_005403, RefSeq Protein:NP_001171486, RefSeq Protein:NP_001171487, RefSeq Protein:NP_071341, RefSeq RNA:NM_001178015, RefSeq RNA:NM_001178016, RefSeq RNA:NM_022058, UCSC Genome Browser:NM_022058, UniProtKB:B7Z1R0, UniProtKB:Q6U841 No chr2 162480699 162841786 161624335 161985276 +PA38139 83959 HGNC:16438 ENSG00000088836 solute carrier family 4 member 11 SLC4A11 """bicarbonate transporter related protein 1"", ""sodium-coupled borate cotransporter 1"", ""solute carrier family 4, sodium borate transporter, member 11""" BTR1, CDPD1, CHED2, FECD4, NaBC1, dJ794I6.2 Yes No Comparative Toxicogenomics Database:83959, Ensembl:ENSG00000088836, GenAtlas:SLC4A11, GeneCard:SLC4A11, HGNC:HGNC:16438, HumanCyc Gene:HS01612, ModBase:Q8NBS3, NCBI Gene:83959, OMIM:217400, OMIM:217700, OMIM:610206, OMIM:613268, RefSeq DNA:NG_017072, RefSeq DNA:NT_011387, RefSeq Protein:NP_001167560, RefSeq Protein:NP_001167561, RefSeq Protein:NP_114423, RefSeq RNA:NM_001174089, RefSeq RNA:NM_001174090, RefSeq RNA:NM_032034, UCSC Genome Browser:NM_032034, UniProtKB:B4DKC8, UniProtKB:B4DKX9, UniProtKB:Q8NBS3 No chr20 3208063 3222109 3227417 3241483 +PA37811 22950 HGNC:13813 ENSG00000163798 solute carrier family 4 member 1 adaptor protein SLC4A1AP """lung cancer oncogene 3"", ""solute carrier family 4 (anion exchanger), member 1, adaptor protein""" HLC3, kanadaptin Yes No Comparative Toxicogenomics Database:22950, Ensembl:ENSG00000163798, GenAtlas:SLC4A1AP, GeneCard:SLC4A1AP, HGNC:HGNC:13813, HumanCyc Gene:HS08938, ModBase:Q9BWU0, NCBI Gene:22950, OMIM:602655, RefSeq DNA:NT_022184, RefSeq Protein:NP_060628, RefSeq RNA:NM_018158, UCSC Genome Browser:NM_018158, UniProtKB:Q9BWU0 No chr2 27886338 27917847 27663471 27694980 +PA35896 6522 HGNC:11028 ENSG00000164889 solute carrier family 4 member 2 SLC4A2 """anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"", ""solute carrier family 4 (anion exchanger), member 2"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)""" AE2, BND3L, EPB3L1, HKB3, NBND3 Yes No Comparative Toxicogenomics Database:6522, Ensembl:ENSG00000164889, GenAtlas:SLC4A2, GeneCard:SLC4A2, HGNC:HGNC:11028, HumanCyc Gene:HS09153, ModBase:P04920, NCBI Gene:6522, OMIM:109280, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001186621, RefSeq Protein:NP_001186622, RefSeq Protein:NP_001186623, RefSeq Protein:NP_003031, RefSeq RNA:NM_001199692, RefSeq RNA:NM_001199693, RefSeq RNA:NM_001199694, RefSeq RNA:NM_003040, UCSC Genome Browser:NM_003040, UniProtKB:P04920, UniProtKB:Q99654 No chr7 150755299 150773614 151058212 151076527 +PA35897 6508 HGNC:11029 ENSG00000114923 solute carrier family 4 member 3 SLC4A3 """Anion exchanger 3, neuronal"", ""solute carrier family 4 (anion exchanger), member 3"", ""solute carrier family 4, anion exchanger, member 3""" AE3, SLC2C Yes No Ensembl:ENSG00000114923, GenAtlas:SLC4A3, GeneCard:SLC4A3, HGNC:HGNC:11029, HumanCyc Gene:HS03816, ModBase:P48751, NCBI Gene:6508, OMIM:106195, RefSeq DNA:NT_005403, RefSeq Protein:NP_005061, RefSeq Protein:NP_963868, RefSeq RNA:NM_005070, RefSeq RNA:NM_201574, UCSC Genome Browser:NM_005070, UniProtKB:P48751 No chr2 220492292 220506702 219627570 219641980 +PA35898 8671 HGNC:11030 ENSG00000080493 solute carrier family 4 member 4 SLC4A4 """Electrogenic sodium bicarbonate cotransporter 1"", ""kidney type Na+/HCO3- cotransporter"", ""pancreatic sodium bicarbonate cotransporter"", ""solute carrier family 4 (sodium bicarbonate cotransporter), member 4"", ""solute carrier family 4, sodium bicarbonate cotransporter, member 4""" HNBC1, KNBC, NBC1, NBC2, NBCe1, SLC4A5, hhNMC, kNBC1, pNBC Yes No Comparative Toxicogenomics Database:8671, Ensembl:ENSG00000080493, GenAtlas:SLC4A4, GeneCard:SLC4A4, HGNC:HGNC:11030, HumanCyc Gene:HS01356, ModBase:Q9Y6R1, NCBI Gene:8671, OMIM:603345, OMIM:604278, RefSeq DNA:NG_012653, RefSeq DNA:NT_022778, RefSeq Protein:NP_001091954, RefSeq Protein:NP_001128214, RefSeq Protein:NP_003750, RefSeq RNA:NM_001098484, RefSeq RNA:NM_001134742, RefSeq RNA:NM_003759, UCSC Genome Browser:NM_003759, UniProtKB:A5JJ20, UniProtKB:Q9Y6R1 No chr4 72053003 72437804 71187286 71572087 +PA166352123 57835 HGNC:18168 solute carrier family 4 member 5 SLC4A5 NBC4 Yes No HGNC:HGNC:18168, NCBI Gene:57835 No 0 0 0 0 +PA35899 9497 HGNC:11033 ENSG00000033867 solute carrier family 4 member 7 SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 NBC3, SBC2, SLC4A6 Yes No Comparative Toxicogenomics Database:9497, Ensembl:ENSG00000033867, GenAtlas:SLC4A7, GeneCard:SLC4A7, HGNC:HGNC:11033, HumanCyc Gene:HS00495, ModBase:Q9Y6M7, NCBI Gene:9497, OMIM:603353, RefSeq DNA:NT_022517, RefSeq Protein:NP_003606, RefSeq RNA:NM_003615, UCSC Genome Browser:NM_003615, UniProtKB:Q9Y6M7 No chr3 27414212 27525911 27372721 27484420 +PA166352124 HGNC:21433 solute carrier family 4, sodium bicarbonate cotransporter, member 7 opposite strand SLC4A7OS bcm2841 Yes No HGNC:HGNC:21433 No 0 0 0 0 +PA35900 9498 HGNC:11034 ENSG00000050438 solute carrier family 4 member 8 SLC4A8 solute carrier family 4, sodium bicarbonate cotransporter, member 8 NBC3 Yes Yes Comparative Toxicogenomics Database:9498, Ensembl:ENSG00000050438, GenAtlas:SLC4A8, GeneCard:SLC4A8, HGNC:HGNC:11034, HumanCyc Gene:HS00634, ModBase:Q2Y0W8, NCBI Gene:9498, OMIM:605024, RefSeq DNA:NT_029419, RefSeq Protein:NP_001035049, RefSeq Protein:NP_004849, RefSeq RNA:NM_001039960, RefSeq RNA:NM_004858, UCSC Genome Browser:NM_004858, UniProtKB:Q2Y0W8 No chr12 51785101 51909547 51391317 51515763 +PA35901 83697 HGNC:11035 ENSG00000113073 solute carrier family 4 member 9 SLC4A9 solute carrier family 4, sodium bicarbonate cotransporter, member 9 AE4 Yes No Comparative Toxicogenomics Database:83697, Ensembl:ENSG00000113073, GenAtlas:SLC4A9, GeneCard:SLC4A9, HGNC:HGNC:11035, HumanCyc Gene:HS03645, ModBase:Q96Q91, NCBI Gene:83697, OMIM:610207, RefSeq DNA:NT_029289, RefSeq Protein:NP_113655, RefSeq RNA:NM_031467, UCSC Genome Browser:NM_031467, UniProtKB:Q96Q91 No chr5 139739787 139754722 140359645 140375177 +PA142671099 55974 HGNC:30657 ENSG00000169241 solute carrier family 50 member 1 SLC50A1 """solute carrier family 50 (sugar efflux transporter), member 1"", ""solute carrier family 50 (sugar transporter), member 1"", ""stromal cell protein""" HsSWEET1, RAG1AP1, RP11-540D14.5, RZPDo834D038D, SCP, SWEET1, slv Yes No Comparative Toxicogenomics Database:55974, Ensembl:ENSG00000169241, GeneCard:RAG1AP1, HGNC:HGNC:30657, HumanCyc Gene:HS09911, ModBase:Q9BRV3, NCBI Gene:55974, RefSeq DNA:NT_004487, RefSeq Protein:NP_001116309, RefSeq Protein:NP_001116311, RefSeq Protein:NP_061333, RefSeq RNA:NM_001122837, RefSeq RNA:NM_001122839, RefSeq RNA:NM_018845, UniProtKB:Q9BRV3 No chr1 155107817 155111334 155135253 155138858 +PA166048991 200931 HGNC:29955 ENSG00000163959 solute carrier family 51 member A SLC51A """organic solute transporter, alpha subunit"", ""solute carrier family 51 alpha subunit"", ""solute carrier family 51, alpha subunit""" OSTalpha, SLC51A1 Yes No Ensembl:ENSG00000163959, HGNC:HGNC:29955, NCBI Gene:200931 No chr3 195943383 195960301 196216512 196233430 +PA166048992 123264 HGNC:29956 ENSG00000186198 SLC51 subunit beta SLC51B """SLC51A1 binding protein"", ""organic solute transporter beta subunit"", ""solute carrier family 51 beta subunit"", ""solute carrier family 51, beta subunit""" OSTbeta, SLC51A1BP Yes No Ensembl:ENSG00000186198, HGNC:HGNC:29956, NCBI Gene:123264 No chr15 65337708 65345734 65045370 65053396 +PA134991217 55065 HGNC:30225 ENSG00000132517 solute carrier family 52 member 1 SLC52A1 """riboflavin transporter 1"", ""solute carrier family 52 (riboflavin transporter), member 1"", ""solute carrier family 52, riboflavin transporter, member 1""" FLJ10060, GPCR42, GPR172B, PAR2, RFVT1, hRFT1 Yes No Comparative Toxicogenomics Database:55065, Ensembl:ENSG00000132517, GeneCard:GPR172B, HGNC:HGNC:30225, HumanCyc Gene:HS05648, NCBI Gene:55065, OMIM:607883, RefSeq DNA:NT_010718, RefSeq Protein:NP_001098047, RefSeq Protein:NP_060456, RefSeq RNA:NM_001104577, RefSeq RNA:NM_017986, UniProtKB:Q9NWF4 No chr17 4935711 4955304 5032602 5035458 +PA134982935 79581 HGNC:30224 ENSG00000185803 solute carrier family 52 member 2 SLC52A2 """G-protein coupled receptor 41"", ""human porcine endogenous retrovirus subgroup A receptor 1"", ""solute carrier family 52 (riboflavin transporter), member 2"", ""solute carrier family 52, riboflavin transporter, member 2""" D15Ertd747e, FLJ11856, GPCR41, GPR172A, HuPAR-1, PAR1, RFT3, RFVT2, hRFT3 Yes No Ensembl:ENSG00000185803, GeneCard:GPR172A, HGNC:HGNC:30224, ModBase:Q9HAB3, NCBI Gene:79581, OMIM:607882, RefSeq DNA:NT_037704, RefSeq Protein:NP_078807, RefSeq RNA:NM_024531, UniProtKB:Q9HAB3 No chr8 145582217 145584946 144358547 144361286 +PA25764 113278 HGNC:16187 ENSG00000101276 solute carrier family 52 member 3 SLC52A3 """hypothetical protein LOC113278"", ""solute carrier family 52 (riboflavin transporter), member 3"", ""solute carrier family 52, riboflavin transporter, member 3""" C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2 Yes No Ensembl:ENSG00000101276, GenAtlas:C20orf54, GeneCard:C20orf54, HGNC:HGNC:16187, HumanCyc Gene:HS02229, ModBase:Q9NQ40, NCBI Gene:113278, OMIM:211530, OMIM:613350, RefSeq DNA:NT_011387, RefSeq Protein:NP_212134, RefSeq RNA:NM_033409, UCSC Genome Browser:NM_033409, UniProtKB:Q9NQ40 No chr20 740724 756628 760080 775985 +PA308 6523 HGNC:11036 ENSG00000100170 solute carrier family 5 member 1 SLC5A1 """sodium/glucose cotransporter 1"", ""solute carrier family 5 (sodium/glucose cotransporter), member 1""" D22S675, NAGT, SGLT-1, SGLT1 Yes No Comparative Toxicogenomics Database:6523, Ensembl:ENSG00000100170, GenAtlas:SLC5A1, GeneCard:SLC5A1, HGNC:HGNC:11036, HumanCyc Gene:HS01992, ModBase:P13866, NCBI Gene:6523, OMIM:182380, OMIM:606824, RefSeq DNA:NG_017045, RefSeq DNA:NT_011520, RefSeq Protein:NP_000334, RefSeq RNA:NM_000343, RefSeq RNA:NR_033411, UCSC Genome Browser:NM_000343, UniProtKB:P13866 No chr22 32439019 32509016 32043032 32113029 +PA134940254 125206 HGNC:23155 ENSG00000154025 solute carrier family 5 member 10 SLC5A10 """solute carrier family 5 (sodium/glucose cotransporter), member 10"", ""solute carrier family 5 (sodium/sugar cotransporter), member 10""" SGLT5 Yes No Comparative Toxicogenomics Database:125206, Ensembl:ENSG00000154025, GeneCard:SLC5A10, HGNC:HGNC:23155, HumanCyc Gene:HS07942, ModBase:A0PJK1, NCBI Gene:125206, RefSeq DNA:NT_010718, RefSeq Protein:NP_001035915, RefSeq Protein:NP_689564, RefSeq RNA:NM_001042450, RefSeq RNA:NM_152351, UniProtKB:A0PJK1 No chr17 18853989 18924004 18950676 19020691 +PA134923660 115584 HGNC:23091 ENSG00000158865 solute carrier family 5 member 11 SLC5A11 """solute carrier family 5 (sodium/glucose cotransporter), member 11"", ""solute carrier family 5 (sodium/inositol cotransporter), member 11""" KST1, SGLT6, SMIT2 Yes No Comparative Toxicogenomics Database:115584, Ensembl:ENSG00000158865, GeneCard:SLC5A11, HGNC:HGNC:23091, HumanCyc Gene:HS08340, ModBase:Q8WWX8, NCBI Gene:115584, OMIM:610238, RefSeq DNA:NT_010393, RefSeq Protein:NP_001339171, RefSeq RNA:NM_001352242, UniProtKB:Q8WWX8 No chr16 24857184 24922949 24832784 24911711 +PA134873929 159963 HGNC:28750 ENSG00000148942 solute carrier family 5 member 12 SLC5A12 """solute carrier family 5 (sodium/glucose cotransporter), member 12"", ""solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12""" MGC52019, SMCT2 Yes No Comparative Toxicogenomics Database:159963, Ensembl:ENSG00000148942, GeneCard:SLC5A12, HGNC:HGNC:28750, ModBase:Q1EHB4, NCBI Gene:159963, OMIM:612455, RefSeq DNA:NT_009237, RefSeq Protein:NP_848593, RefSeq RNA:NM_178498, UniProtKB:Q1EHB4 No chr11 26688566 26743574 26667019 26723356 +PA35902 6524 HGNC:11037 ENSG00000140675 solute carrier family 5 member 2 SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 SGLT2 Yes Yes Comparative Toxicogenomics Database:6524, Ensembl:ENSG00000140675, GenAtlas:SLC5A2, GeneCard:SLC5A2, HGNC:HGNC:11037, HumanCyc Gene:HS06748, ModBase:P31639, NCBI Gene:6524, OMIM:182381, OMIM:233100, RefSeq DNA:NG_012892, RefSeq DNA:NT_010393, RefSeq Protein:NP_003032, RefSeq RNA:NM_003041, UCSC Genome Browser:NM_003041, UniProtKB:P31639 No chr16 31494439 31502091 31482535 31490770 +PA35903 6526 HGNC:11038 ENSG00000198743 solute carrier family 5 member 3 SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 SMIT, SMIT1 Yes No Comparative Toxicogenomics Database:6526, Ensembl:ENSG00000198743, GenAtlas:SLC5A3, GeneCard:SLC5A3, HGNC:HGNC:11038, ModBase:P53794, NCBI Gene:6526, OMIM:600444, RefSeq DNA:NT_011512, RefSeq Protein:NP_008864, RefSeq RNA:NM_006933, UCSC Genome Browser:NM_006933, UniProtKB:P53794 No chr21 35445503 35515334 34073523 34106262 +PA35904 6527 HGNC:11039 ENSG00000100191 solute carrier family 5 member 4 SLC5A4 """solute carrier family 5 (glucose activated ion channel), member 4"", ""solute carrier family 5 (low affinity glucose cotransporter), member 4""" DJ90G24.4, SAAT1, SGLT3 Yes No Ensembl:ENSG00000100191, GenAtlas:SLC5A4, GeneCard:SLC5A4, HGNC:HGNC:11039, HumanCyc Gene:HS01995, ModBase:Q9NY91, NCBI Gene:6527, RefSeq DNA:NT_011520, RefSeq Protein:NP_055042, RefSeq RNA:NM_014227, UCSC Genome Browser:NM_014227, UniProtKB:Q9NY91 No chr22 32614463 32651318 32218423 32355057 +PA35905 6528 HGNC:11040 ENSG00000105641 solute carrier family 5 member 5 SLC5A5 """sodium iodide symporter"", ""solute carrier family 5 (sodium iodide symporter), member 5"", ""solute carrier family 5 (sodium/iodide cotransporter), member 5""" NIS Yes No Comparative Toxicogenomics Database:6528, Ensembl:ENSG00000105641, GenAtlas:SLC5A5, GeneCard:SLC5A5, HGNC:HGNC:11040, HumanCyc Gene:HS02776, ModBase:Q92911, NCBI Gene:6528, OMIM:274400, OMIM:601843, RefSeq DNA:NG_012930, RefSeq DNA:NT_011295, RefSeq Protein:NP_000444, RefSeq RNA:NM_000453, UCSC Genome Browser:NM_000453, UniProtKB:Q92911 No chr19 17982641 18005983 17871394 17895175 +PA379 8884 HGNC:11041 ENSG00000138074 solute carrier family 5 member 6 SLC5A6 """Sodium-dependent multivitamin transporter"", ""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"", ""solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6""" SMVT Yes No Comparative Toxicogenomics Database:8884, Ensembl:ENSG00000138074, GenAtlas:SLC5A6, GeneCard:SLC5A6, HGNC:HGNC:11041, HumanCyc Gene:HS06447, ModBase:Q9Y289, NCBI Gene:8884, OMIM:604024, RefSeq DNA:NT_022184, RefSeq Protein:NP_066918, RefSeq RNA:NM_021095, RefSeq RNA:NR_028323, UCSC Genome Browser:NM_021095, UniProtKB:Q9HD19, UniProtKB:Q9Y289 No chr2 27422455 27435175 27199587 27212307 +PA37838 60482 HGNC:14025 ENSG00000115665 solute carrier family 5 member 7 SLC5A7 """High affinity choline transporter 1"", ""solute carrier family 5 (choline transporter), member 7"", ""solute carrier family 5 (sodium/choline cotransporter), member 7""" CHT1, ChT, hCHT Yes Yes Comparative Toxicogenomics Database:60482, Ensembl:ENSG00000115665, GenAtlas:SLC5A7, GeneCard:SLC5A7, HGNC:HGNC:14025, HumanCyc Gene:HS03925, ModBase:Q9GZV3, NCBI Gene:60482, OMIM:608761, RefSeq DNA:NT_022171, RefSeq Protein:NP_068587, RefSeq RNA:NM_021815, UCSC Genome Browser:NM_021815, UniProtKB:Q9GZV3 No chr2 108602979 108630663 107986514 108014497 +PA134989874 160728 HGNC:19119 ENSG00000139357, ENSG00000256870 solute carrier family 5 member 8 SLC5A8 """solute carrier family 5 (iodide transporter), member 8"", ""solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8""" AIT Yes No Ensembl:ENSG00000139357, Ensembl:ENSG00000256870, GeneCard:SLC5A8, HGNC:HGNC:19119, HumanCyc Gene:HS06613, NCBI Gene:160728, OMIM:608044, RefSeq DNA:NT_029419, RefSeq Protein:NP_666018, RefSeq RNA:NM_145913, UniProtKB:Q8N695 No chr12 101549994 101604016 101156216 101210274 +PA134949681 200010 HGNC:22146 ENSG00000117834 solute carrier family 5 member 9 SLC5A9 """solute carrier family 5 (sodium/glucose cotransporter), member 9"", ""solute carrier family 5 (sodium/sugar cotransporter), member 9""" SGLT4 Yes No Ensembl:ENSG00000117834, GeneCard:SLC5A9, HGNC:HGNC:22146, NCBI Gene:200010, RefSeq DNA:NT_032977, RefSeq Protein:NP_001011547, RefSeq Protein:NP_001128653, RefSeq RNA:NM_001011547, RefSeq RNA:NM_001135181, UniProtKB:Q2M3M2 No chr1 48688339 48714316 48221113 48248644 +PA166352125 54896 HGNC:26001 solute carrier family 66 member 1 SLC66A1 PQLC2, lysosomal amino acid transporter 1 homolog FLJ20320, LAAT-1, LAAT1 Yes No HGNC:HGNC:26001, NCBI Gene:54896 No 0 0 0 0 +PA166352126 80148 HGNC:26188 solute carrier family 66 member 2 SLC66A2 PQLC1 FLJ22378 Yes No HGNC:HGNC:26188, NCBI Gene:80148 No 0 0 0 0 +PA134941925 130814 HGNC:28503 solute carrier family 66 member 3 SLC66A3 PQ loop repeat containing 3 C2orf22, MGC33602, PQLC3, SLC66A3 Yes No GeneCard:PQLC3, HGNC:HGNC:28503, HumanCyc Gene:HS14997, ModBase:Q8N755, NCBI Gene:130814, RefSeq DNA:NT_005334, RefSeq Protein:NP_689604, RefSeq RNA:NM_152391, UniProtKB:Q8N755 No chr2 11295498 11319000 11155372 11178874 +PA309 6529 HGNC:11042 ENSG00000157103 solute carrier family 6 member 1 SLC6A1 """GABA transporter 1"", ""Sodium- and chloride-dependent GABA transporter 1"", ""solute carrier family 6 (neurotransmitter transporter), member 1"", ""solute carrier family 6 (neurotransmitter transporter, GABA), member 1""" GABATHG, GABATR, GAT-1, GAT1, hGAT-1 Yes No Comparative Toxicogenomics Database:6529, Ensembl:ENSG00000157103, GenAtlas:SLC6A1, GeneCard:SLC6A1, HGNC:HGNC:11042, HumanCyc Gene:HS08178, ModBase:P30531, NCBI Gene:6529, OMIM:137165, RefSeq DNA:NT_022517, RefSeq Protein:NP_003033, RefSeq RNA:NM_003042, UCSC Genome Browser:NM_003042, UniProtKB:P30531 No chr3 11034420 11080935 10992718 11039249 +PA35906 386757 HGNC:11043 ENSG00000214617 solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene SLC6A10P CT-2 Yes No Ensembl:ENSG00000214617, GenAtlas:SLC6A10P, GeneCard:SLC6A10P, HGNC:HGNC:11043, NCBI Gene:386757, RefSeq DNA:NT_010393, RefSeq RNA:NR_003083 No chr16 32888797 32896463 32877476 32885142 +PA35907 6538 HGNC:11044 ENSG00000132164 solute carrier family 6 member 11 SLC6A11 """GABA transporter 3"", ""solute carrier family 6 (neurotransmitter transporter), member 11"", ""solute carrier family 6 (neurotransmitter transporter, GABA), member 11""" GAT3 Yes No Ensembl:ENSG00000132164, GenAtlas:SLC6A11, GeneCard:SLC6A11, HGNC:HGNC:11044, HumanCyc Gene:HS05601, ModBase:P48066, NCBI Gene:6538, OMIM:607952, RefSeq DNA:NT_022517, RefSeq Protein:NP_055044, RefSeq RNA:NM_014229, UCSC Genome Browser:NM_014229, UniProtKB:P48066 No chr3 10857917 10980146 10816200 10940733 +PA35908 6539 HGNC:11045 ENSG00000111181 solute carrier family 6 member 12 SLC6A12 """betaine/GABA transporter-1"", ""solute carrier family 6 (neurotransmitter transporter), member 12"", ""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12""" BGT-1 Yes Yes Comparative Toxicogenomics Database:6539, Ensembl:ENSG00000111181, GenAtlas:SLC6A12, GeneCard:SLC6A12, HGNC:HGNC:11045, HumanCyc Gene:HS03374, ModBase:P48065, NCBI Gene:6539, OMIM:603080, RefSeq DNA:NT_009759, RefSeq Protein:NP_001116319, RefSeq Protein:NP_001116320, RefSeq Protein:NP_001193860, RefSeq Protein:NP_003035, RefSeq RNA:NM_001122847, RefSeq RNA:NM_001122848, RefSeq RNA:NM_001206931, RefSeq RNA:NM_003044, UCSC Genome Browser:NM_003044, UniProtKB:B3KWG3, UniProtKB:P48065 No chr12 299243 323740 190077 214523 +PA35909 6540 HGNC:11046 ENSG00000010379 solute carrier family 6 member 13 SLC6A13 """GABA transporter 2"", ""solute carrier family 6 (neurotransmitter transporter), member 13"", ""solute carrier family 6 (neurotransmitter transporter, GABA), member 13""" GAT2 Yes No Comparative Toxicogenomics Database:6540, Ensembl:ENSG00000010379, GenAtlas:SLC6A13, GeneCard:SLC6A13, HGNC:HGNC:11046, HumanCyc Gene:HS00285, ModBase:Q9NSD5, NCBI Gene:6540, RefSeq DNA:NT_009759, RefSeq Protein:NP_001177926, RefSeq Protein:NP_057699, RefSeq RNA:NM_001190997, RefSeq RNA:NM_016615, RefSeq RNA:NR_034028, UCSC Genome Browser:NM_016615, UniProtKB:Q9NSD5 No chr12 329787 372039 220621 262930 +PA35910 11254 HGNC:11047 ENSG00000268104 solute carrier family 6 member 14 SLC6A14 solute carrier family 6 (amino acid transporter), member 14 Yes No Comparative Toxicogenomics Database:11254, Ensembl:ENSG00000268104, GenAtlas:SLC6A14, GeneCard:SLC6A14, HGNC:HGNC:11047, HumanCyc Gene:HS01585, ModBase:Q9UN76, NCBI Gene:11254, OMIM:300306, OMIM:300444, RefSeq DNA:NG_021305, RefSeq DNA:NT_028405, RefSeq Protein:NP_009162, RefSeq RNA:NM_007231, UCSC Genome Browser:NM_007231, UniProtKB:Q9UN76 No chrX 115567747 115592625 116436579 116461458 +PA37799 55117 HGNC:13621 ENSG00000072041 solute carrier family 6 member 15 SLC6A15 """homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"", ""solute carrier family 6 (neutral amino acid transporter), member 15""" FLJ10316, NTT73, SBAT1, V7-3, hv7-3 Yes No Ensembl:ENSG00000072041, GenAtlas:SLC6A15, GeneCard:SLC6A15, HGNC:HGNC:13621, HumanCyc Gene:HS01049, ModBase:Q9H2J7, NCBI Gene:55117, OMIM:607971, RefSeq DNA:NT_029419, RefSeq Protein:NP_001139807, RefSeq Protein:NP_060527, RefSeq Protein:NP_877499, RefSeq RNA:NM_001146335, RefSeq RNA:NM_018057, RefSeq RNA:NM_182767, UniProtKB:B7Z2P7, UniProtKB:Q8IXG2, UniProtKB:Q9H2J7, UniProtKB:Q9H9F5, UniProtKB:Q9NW50 No chr12 85253267 85306608 84859488 84912876 +PA37800 28968 HGNC:13622 ENSG00000063127 solute carrier family 6 member 16 SLC6A16 """NTT5 protein"", ""solute carrier family 6, member 16""" NTT5 Yes No Ensembl:ENSG00000063127, GenAtlas:SLC6A16, GeneCard:SLC6A16, HGNC:HGNC:13622, HumanCyc Gene:HS00774, ModBase:Q9GZN6, NCBI Gene:28968, OMIM:607972, RefSeq DNA:NT_011109, RefSeq Protein:NP_054756, RefSeq RNA:NM_014037, UniProtKB:Q9GZN6 No chr19 49792889 49828521 49289632 49332320 +PA134941636 388662 HGNC:31399 ENSG00000197106 solute carrier family 6 member 17 SLC6A17 """Sodium-dependent neutral amino acid transporter SLC6A17"", ""neurotransmitter transporter 4"", ""solute carrier family 6 (neutral amino acid transporter), member 17"", ""solute carrier family 6, member 17""" NTT4 Yes No Ensembl:ENSG00000197106, GeneCard:SLC6A17, HGNC:HGNC:31399, ModBase:Q9H1V8, NCBI Gene:388662, OMIM:610299, RefSeq DNA:NT_032977, RefSeq Protein:NP_001010898, RefSeq RNA:NM_001010898, UniProtKB:A8K1R7, UniProtKB:Q9H1V8 No chr1 110693132 110744824 110150510 110202202 +PA134982449 348932 HGNC:26441 ENSG00000164363 solute carrier family 6 member 18 SLC6A18 """solute carrier family 6 (neutral amino acid transporter), member 18"", ""solute carrier family 6, member 18""" FLJ31236, Xtrp2 Yes No Ensembl:ENSG00000164363, GeneCard:SLC6A18, HGNC:HGNC:26441, ModBase:Q96N87, NCBI Gene:348932, OMIM:610300, RefSeq DNA:NT_006576, RefSeq Protein:NP_872438, RefSeq RNA:NM_182632, UniProtKB:Q96N87 No chr5 1225470 1246304 1225355 1246189 +PA134968815 340024 HGNC:27960 ENSG00000174358 solute carrier family 6 member 19 SLC6A19 """Hartnup disease"", ""Sodium-dependent neutral amino acid transporter B(0)AT1"", ""broad neutral amino acid transporter 1"", ""solute carrier family 6 (neutral amino acid transporter), member 19""" B0AT1 Yes No Comparative Toxicogenomics Database:340024, Ensembl:ENSG00000174358, GeneCard:SLC6A19, HGNC:HGNC:27960, ModBase:Q695T7, NCBI Gene:340024, OMIM:138500, OMIM:234500, OMIM:242600, OMIM:608893, RefSeq DNA:NG_008282, RefSeq DNA:NT_006576, RefSeq Protein:NP_001003841, RefSeq RNA:NM_001003841, UniProtKB:Q695T7 No chr5 1201710 1225232 1201595 1225117 +PA310 6530 HGNC:11048 ENSG00000103546 solute carrier family 6 member 2 SLC6A2 """norepinephrine transporter"", ""solute carrier family 6 (neurotransmitter transporter), member 2"", ""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2""" NAT1, NET, NET1, SLC6A5 Yes Yes Comparative Toxicogenomics Database:6530, Ensembl:ENSG00000103546, GenAtlas:SLC6A2, GeneCard:SLC6A2, HGNC:HGNC:11048, HumanCyc Gene:HS02521, ModBase:P23975, NCBI Gene:6530, OMIM:163970, OMIM:604715, RefSeq DNA:NG_016969, RefSeq DNA:NT_010498, RefSeq Protein:NP_001034, RefSeq Protein:NP_001165972, RefSeq Protein:NP_001165973, RefSeq Protein:NP_001165975, RefSeq RNA:NM_001043, RefSeq RNA:NM_001172501, RefSeq RNA:NM_001172502, RefSeq RNA:NM_001172504, UCSC Genome Browser:NM_001043, UniProtKB:B4DX48, UniProtKB:P23975, UniProtKB:Q96KH8 No chr16 55689542 55740104 55655604 55706192 +PA134865308 54716 HGNC:30927 ENSG00000163817 solute carrier family 6 member 20 SLC6A20 """sodium-dependent imino acid transporter 1"", ""solute carrier family 6 (proline IMINO transporter), member 20""" IMINO, SIT1, XT3, Xtrp3 Yes No Comparative Toxicogenomics Database:54716, Ensembl:ENSG00000163817, GeneCard:SLC6A20, HGNC:HGNC:30927, HumanCyc Gene:HS08946, ModBase:Q9NP91, NCBI Gene:54716, OMIM:138500, OMIM:242600, OMIM:605616, RefSeq DNA:NG_023204, RefSeq DNA:NT_022517, RefSeq Protein:NP_064593, RefSeq Protein:NP_071800, RefSeq RNA:NM_020208, RefSeq RNA:NM_022405, UniProtKB:Q9NP91 No chr3 45796941 45838039 45755449 45796553 +PA142670911 652969 HGNC:31400 ENSG00000269009 solute carrier family 6 (neurotransmitter transporter), member 21, pseudogene SLC6A21P Yes No Ensembl:ENSG00000269009, GeneCard:SLC6A21P, HGNC:HGNC:31400, NCBI Gene:652969, RefSeq DNA:NG_009578, RefSeq DNA:NT_011109 No chr19 49755590 49759597 49252333 49256340 +PA311 6531 HGNC:11049 ENSG00000142319 solute carrier family 6 member 3 SLC6A3 """Sodium-dependent dopamine transporter"", ""dopamine transporter"", ""solute carrier family 6 (neurotransmitter transporter), member 3"", ""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3""" DAT, DAT1 Yes Yes Comparative Toxicogenomics Database:6531, Ensembl:ENSG00000142319, GenAtlas:SLC6A3, GeneCard:SLC6A3, HGNC:HGNC:11049, HumanCyc Gene:HS06917, ModBase:Q01959, NCBI Gene:6531, OMIM:125480, OMIM:126455, OMIM:143465, OMIM:188890, OMIM:613135, RefSeq DNA:NG_015885, RefSeq DNA:NT_006576, RefSeq Protein:NP_001035, RefSeq RNA:NM_001044, UCSC Genome Browser:NM_001044, UniProtKB:A2RUN4, UniProtKB:Q01959 No chr5 1392905 1445543 1392790 1445428 +PA312 6532 HGNC:11050 ENSG00000108576 solute carrier family 6 member 4 SLC6A4 """serotonin transporter 1"", ""solute carrier family 6 (neurotransmitter transporter), member 4"", ""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4""" 5-HTT, HTT, OCD1, SERT1 Yes Yes Comparative Toxicogenomics Database:6532, Ensembl:ENSG00000108576, GenAtlas:SLC6A4, GeneCard:SLC6A4, HGNC:HGNC:11050, HumanCyc Gene:HS03126, ModBase:P31645, NCBI Gene:6532, OMIM:164230, OMIM:182138, OMIM:607834, RefSeq DNA:NG_011747, RefSeq DNA:NT_010799, RefSeq Protein:NP_001036, RefSeq RNA:NM_001045, UCSC Genome Browser:NM_001045, UniProtKB:B2R7Y7, UniProtKB:P31645, UniProtKB:Q5EE02 Yes chr17 28521337 28562986 30194319 30235968 +PA35911 9152 HGNC:11051 ENSG00000165970 solute carrier family 6 member 5 SLC6A5 """Sodium- and chloride-dependent glycine transporter 2"", ""glycine transporter 2"", ""solute carrier family 6 (neurotransmitter transporter), member 5"", ""solute carrier family 6 (neurotransmitter transporter, glycine), member 5""" GLYT2, GlyT-2, NET1 Yes Yes Comparative Toxicogenomics Database:9152, Ensembl:ENSG00000165970, GenAtlas:SLC6A5, GeneCard:SLC6A5, HGNC:HGNC:11051, HumanCyc Gene:HS09311, ModBase:Q9Y345, NCBI Gene:9152, OMIM:149400, OMIM:604159, RefSeq DNA:NG_013086, RefSeq DNA:NT_009237, RefSeq Protein:NP_004202, RefSeq RNA:NM_004211, UCSC Genome Browser:NM_004211, UniProtKB:Q4VAM4, UniProtKB:Q9Y345 No chr11 20620946 20676610 20599400 20659285 +PA35912 6533 HGNC:11052 ENSG00000131389 solute carrier family 6 member 6 SLC6A6 """solute carrier family 6 (neurotransmitter transporter), member 6"", ""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"", ""taurine transporter""" TAUT Yes No Comparative Toxicogenomics Database:6533, Ensembl:ENSG00000131389, GenAtlas:SLC6A6, GeneCard:SLC6A6, HGNC:HGNC:11052, HumanCyc Gene:HS05520, ModBase:P31641, NCBI Gene:6533, OMIM:186854, RefSeq DNA:NT_022517, RefSeq Protein:NP_001127839, RefSeq Protein:NP_001127840, RefSeq Protein:NP_003034, RefSeq RNA:NM_001134367, RefSeq RNA:NM_001134368, RefSeq RNA:NM_003043, UCSC Genome Browser:NM_003043, UniProtKB:B2RNU7, UniProtKB:P31641, UniProtKB:Q9BRI2 No chr3 14444076 14530857 14402576 14489349 +PA35913 54019 HGNC:11053 ENSG00000226818 solute carrier family 6, member 6 pseudogene 1 SLC6A6P1 Yes No Ensembl:ENSG00000226818, GenAtlas:SLC6A6P, GeneCard:SLC6A6P1, HGNC:HGNC:11053, NCBI Gene:54019, RefSeq DNA:NG_000901, RefSeq DNA:NT_011512 No chr21 20616712 20618714 19244532 19245133 +PA35914 6534 HGNC:11054 ENSG00000011083 solute carrier family 6 member 7 SLC6A7 """brain-specific L-proline transporter"", ""sodium-dependent proline transporter"", ""solute carrier family 6 (neurotransmitter transporter), member 7"", ""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7""" PROT Yes No Ensembl:ENSG00000011083, GenAtlas:SLC6A7, GeneCard:SLC6A7, HGNC:HGNC:11054, HumanCyc Gene:HS00301, ModBase:Q99884, NCBI Gene:6534, OMIM:606205, RefSeq DNA:NT_029289, RefSeq Protein:NP_055043, RefSeq RNA:NM_014228, UCSC Genome Browser:NM_014228, UniProtKB:Q99884 No chr5 149569520 149590635 150189861 150211072 +PA35915 6535 HGNC:11055 ENSG00000130821 solute carrier family 6 member 8 SLC6A8 """Sodium- and chloride-dependent creatine transporter 1"", ""creatine transporter"", ""solute carrier family 6 (neurotransmitter transporter), member 8"", ""solute carrier family 6 (neurotransmitter transporter, creatine), member 8""" CRT, CRT-1, CRT1, CRTR, CT1 Yes No Comparative Toxicogenomics Database:6535, Ensembl:ENSG00000130821, GenAtlas:SLC6A8, GeneCard:SLC6A8, HGNC:HGNC:11055, HumanCyc Gene:HS05450, ModBase:P48029, NCBI Gene:6535, OMIM:300036, OMIM:300352, RefSeq DNA:NG_012016, RefSeq DNA:NT_167198, RefSeq Protein:NP_001136277, RefSeq Protein:NP_001136278, RefSeq Protein:NP_005620, RefSeq RNA:NM_001142805, RefSeq RNA:NM_001142806, RefSeq RNA:NM_005629, UCSC Genome Browser:NM_005629, UniProtKB:B4DIA3, UniProtKB:P48029, UniProtKB:Q59EV7 No chrX 152953752 152962048 153688297 153696593 +PA35916 6536 HGNC:11056 ENSG00000196517 solute carrier family 6 member 9 SLC6A9 """Sodium- and chloride-dependent glycine transporter 1"", ""solute carrier family 6 (neurotransmitter transporter, glycine), member 9""" GLYT1, GlyT-1 Yes Yes Comparative Toxicogenomics Database:6536, Ensembl:ENSG00000196517, GenAtlas:SLC6A9, GeneCard:SLC6A9, HGNC:HGNC:11056, ModBase:P48067, NCBI Gene:6536, OMIM:601019, RefSeq DNA:NT_032977, RefSeq Protein:NP_001020016, RefSeq Protein:NP_008865, RefSeq Protein:NP_964012, RefSeq RNA:NM_001024845, RefSeq RNA:NM_006934, RefSeq RNA:NM_201649, UCSC Genome Browser:NM_006934, UniProtKB:P48067 No chr1 44462155 44497171 43996483 44031492 +PA35917 6541 HGNC:11057 ENSG00000139514 solute carrier family 7 member 1 SLC7A1 """amino acid transporter, cationic 1"", ""ecotropic retroviral receptor"", ""solute carrier family 7 (cationic amino acid transporter, y+ system), member 1""" ATRC1, CAT-1, ERR, HCAT1, REC1L Yes No Comparative Toxicogenomics Database:6541, Ensembl:ENSG00000139514, GenAtlas:SLC7A1, GeneCard:SLC7A1, HGNC:HGNC:11057, HumanCyc Gene:HS06624, ModBase:P30825, NCBI Gene:6541, OMIM:104615, RefSeq DNA:NT_024524, RefSeq Protein:NP_003036, RefSeq RNA:NM_003045, UCSC Genome Browser:NM_003045, UniProtKB:P30825 No chr13 30083551 30169825 29509410 29595715 +PA35918 56301 HGNC:11058 ENSG00000130876 solute carrier family 7 member 10 SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 asc-1 Yes No Ensembl:ENSG00000130876, GenAtlas:SLC7A10, GeneCard:SLC7A10, HGNC:HGNC:11058, HumanCyc Gene:HS05457, ModBase:Q9NS82, NCBI Gene:56301, OMIM:607959, RefSeq DNA:NT_011109, RefSeq Protein:NP_062823, RefSeq RNA:NM_019849, UCSC Genome Browser:NM_019849, UniProtKB:Q9NS82 No chr19 33699570 33716756 33208664 33225850 +PA35919 23657 HGNC:11059 ENSG00000151012 solute carrier family 7 member 11 SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 xCT Yes No Comparative Toxicogenomics Database:23657, Ensembl:ENSG00000151012, GenAtlas:SLC7A11, GeneCard:SLC7A11, HGNC:HGNC:11059, HumanCyc Gene:HS07701, ModBase:Q9UPY5, NCBI Gene:23657, OMIM:607933, RefSeq DNA:NT_016354, RefSeq Protein:NP_055146, RefSeq RNA:NM_014331, UCSC Genome Browser:NM_014331, UniProtKB:A8K2U4, UniProtKB:Q9UPY5 No chr4 139085248 139163572 138164094 138242418 +PA134980828 157724 HGNC:23092 ENSG00000164893 solute carrier family 7 member 13 SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 AGT-1, XAT2 Yes No Ensembl:ENSG00000164893, GeneCard:SLC7A13, HGNC:HGNC:23092, HumanCyc Gene:HS09154, ModBase:Q8TCU3, NCBI Gene:157724, RefSeq DNA:NT_008046, RefSeq Protein:NP_620172, RefSeq RNA:NM_138817, UniProtKB:Q8TCU3 No chr8 87226288 87242609 86213909 86230380 +PA142670913 57709 HGNC:29326 ENSG00000013293 solute carrier family 7 member 14 SLC7A14 """protein phosphatase 1, regulatory subunit 142"", ""solute carrier family 7 (orphan transporter), member 14"", ""solute carrier family 7, member 14""" KIAA1613, PPP1R142 Yes No Ensembl:ENSG00000013293, GeneCard:SLC7A14, HGNC:HGNC:29326, ModBase:Q8TBB6, NCBI Gene:57709, RefSeq DNA:NT_005612, RefSeq Protein:NP_066000, RefSeq RNA:NM_020949, UniProtKB:Q8TBB6 No chr3 170177342 170303863 170459554 170586074 +PA35920 6542 HGNC:11060 ENSG00000003989 solute carrier family 7 member 2 SLC7A2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 ATRC2, CAT-2, CAT-2A, CAT-2B, HCAT2, SLC7A2A, SLC7A2B Yes No Comparative Toxicogenomics Database:6542, Ensembl:ENSG00000003989, GenAtlas:SLC7A2, GeneCard:SLC7A2, HGNC:HGNC:11060, HumanCyc Gene:HS00098, NCBI Gene:6542, OMIM:601872, RefSeq DNA:NT_167187, RefSeq Protein:NP_001008539, RefSeq Protein:NP_001158243, RefSeq Protein:NP_003037, RefSeq RNA:NM_001008539, RefSeq RNA:NM_001164771, RefSeq RNA:NM_003046, UCSC Genome Browser:NM_003046, UniProtKB:P52569 No chr8 17354597 17428077 17494349 17570568 +PA35921 84889 HGNC:11061 ENSG00000165349 solute carrier family 7 member 3 SLC7A3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 ATRC3, CAT-3, FLJ14541 Yes No Comparative Toxicogenomics Database:84889, Ensembl:ENSG00000165349, GenAtlas:SLC7A3, GeneCard:SLC7A3, HGNC:HGNC:11061, HumanCyc Gene:HS09219, ModBase:Q8WY07, NCBI Gene:84889, OMIM:300443, RefSeq DNA:NG_021370, RefSeq DNA:NT_011669, RefSeq Protein:NP_001041629, RefSeq Protein:NP_116192, RefSeq RNA:NM_001048164, RefSeq RNA:NM_032803, UCSC Genome Browser:NM_032803, UniProtKB:Q8WY07 No chrX 70145429 70150975 70925579 70931125 +PA35922 6545 HGNC:11062 ENSG00000099960 solute carrier family 7 member 4 SLC7A4 """solute carrier family 7 (orphan transporter), member 4"", ""solute carrier family 7, member 4""" CAT-4, HCAT3, VH Yes No Comparative Toxicogenomics Database:6545, Ensembl:ENSG00000099960, GenAtlas:SLC7A4, GeneCard:SLC7A4, HGNC:HGNC:11062, HumanCyc Gene:HS01939, ModBase:O43246, NCBI Gene:6545, OMIM:603752, RefSeq DNA:NT_011520, RefSeq Protein:NP_004164, RefSeq RNA:NM_004173, UCSC Genome Browser:NM_004173, UniProtKB:O43246 No chr22 21382995 21387163 21028718 21032558 +PA35923 8140 HGNC:11063 ENSG00000103257 solute carrier family 7 member 5 SLC7A5 """L-type amino acid transporter 1"", ""solute carrier family 7 (amino acid transporter light chain, L system), member 5""" CD98, D16S469E, E16, LAT1, MPE16 Yes Yes Comparative Toxicogenomics Database:8140, Ensembl:ENSG00000103257, GenAtlas:SLC7A5, GeneCard:SLC7A5, HGNC:HGNC:11063, HumanCyc Gene:HS02481, ModBase:Q01650, NCBI Gene:8140, OMIM:600182, RefSeq DNA:NT_010498, RefSeq Protein:NP_003477, RefSeq RNA:NM_003486, UCSC Genome Browser:NM_003486, UniProtKB:Q01650, UniProtKB:Q8IV97 No chr16 87863629 87903100 87830022 87869499 +PA35924 9057 HGNC:11064 ENSG00000103064 solute carrier family 7 member 6 SLC7A6 solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 KIAA0245, LAT-2, LAT3, y+LAT-2 Yes No Comparative Toxicogenomics Database:9057, Ensembl:ENSG00000103064, GenAtlas:SLC7A6, GeneCard:SLC7A6, HGNC:HGNC:11064, HumanCyc Gene:HS02450, ModBase:Q92536, NCBI Gene:9057, OMIM:605641, RefSeq DNA:NT_010498, RefSeq Protein:NP_001070253, RefSeq Protein:NP_003974, RefSeq RNA:NM_001076785, RefSeq RNA:NM_003983, UCSC Genome Browser:NM_003983, UniProtKB:Q68DB5, UniProtKB:Q92536 No chr16 68298419 68335726 68263830 68301823 +PA142670912 84138 HGNC:25807 ENSG00000103061 solute carrier family 7 member 6 opposite strand SLC7A6OS solute carrier family 7, member 6 opposite strand FLJ13291, Iwr1 Yes No Comparative Toxicogenomics Database:84138, Ensembl:ENSG00000103061, GeneCard:SLC7A6OS, HGNC:HGNC:25807, HumanCyc Gene:HS12509, NCBI Gene:84138, RefSeq DNA:NT_010498, RefSeq Protein:NP_115554, RefSeq RNA:NM_032178, UniProtKB:Q96CW6 No chr16 68318043 68344868 68300615 68310965 +PA35925 9056 HGNC:11065 ENSG00000155465 solute carrier family 7 member 7 SLC7A7 """Y+L amino acid transporter 1"", ""solute carrier family 7 (amino acid transporter light chain, y+L system), member 7""" LPI, Y+LAT1, y+LAT-1 Yes No Comparative Toxicogenomics Database:9056, Ensembl:ENSG00000155465, GenAtlas:SLC7A7, GeneCard:SLC7A7, HGNC:HGNC:11065, HumanCyc Gene:HS08052, ModBase:Q9UM01, NCBI Gene:9056, OMIM:222700, OMIM:603593, RefSeq DNA:NG_012851, RefSeq DNA:NT_026437, RefSeq Protein:NP_001119577, RefSeq Protein:NP_001119578, RefSeq Protein:NP_003973, RefSeq RNA:NM_001126105, RefSeq RNA:NM_001126106, RefSeq RNA:NM_003982, UCSC Genome Browser:NM_003982, UniProtKB:Q9UM01 No chr14 23242431 23289020 22773222 22819811 +PA35926 23428 HGNC:11066 ENSG00000092068 solute carrier family 7 member 8 SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8 LAT2, LPI-PC1 Yes Yes Comparative Toxicogenomics Database:23428, Ensembl:ENSG00000092068, GenAtlas:SLC7A8, GeneCard:SLC7A8, HGNC:HGNC:11066, HumanCyc Gene:HS01756, ModBase:Q9UHI5, NCBI Gene:23428, OMIM:604235, RefSeq DNA:NT_026437, RefSeq Protein:NP_036376, RefSeq Protein:NP_877392, RefSeq RNA:NM_012244, RefSeq RNA:NM_182728, UCSC Genome Browser:NM_012244, UniProtKB:A8MTG0, UniProtKB:Q86U05, UniProtKB:Q8N424, UniProtKB:Q9UHI5 No chr14 23594504 23652869 23125295 23183660 +PA35927 11136 HGNC:11067 ENSG00000021488 solute carrier family 7 member 9 SLC7A9 """b(0,+)-type amino acid transporter 1"", ""solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9"", ""solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9""" BAT1, CSNU3 Yes No Comparative Toxicogenomics Database:11136, Ensembl:ENSG00000021488, GenAtlas:SLC7A9, GeneCard:SLC7A9, HGNC:HGNC:11067, HumanCyc Gene:HS00410, ModBase:P82251, NCBI Gene:11136, OMIM:220100, OMIM:604144, RefSeq DNA:NG_008258, RefSeq DNA:NT_011109, RefSeq Protein:NP_001119807, RefSeq Protein:NP_055085, RefSeq RNA:NM_001126335, RefSeq RNA:NM_014270, UCSC Genome Browser:NM_014270, UniProtKB:P82251 No chr19 33321417 33360683 32830511 32870958 +PA314 6546 HGNC:11068 ENSG00000183023 solute carrier family 8 member A1 SLC8A1 """Na+/Ca++ exchanger"", ""solute carrier family 8 (sodium/calcium exchanger), member 1""" NCX1 Yes No Comparative Toxicogenomics Database:6546, Ensembl:ENSG00000183023, GenAtlas:SLC8A1, GeneCard:SLC8A1, HGNC:HGNC:11068, ModBase:P32418, NCBI Gene:6546, OMIM:182305, RefSeq DNA:NT_022184, RefSeq Protein:NP_001106271, RefSeq Protein:NP_001106272, RefSeq Protein:NP_001106273, RefSeq Protein:NP_066920, RefSeq RNA:NM_001112800, RefSeq RNA:NM_001112801, RefSeq RNA:NM_001112802, RefSeq RNA:NM_021097, UCSC Genome Browser:NM_021097, UniProtKB:P32418, UniProtKB:Q4QQH3, UniProtKB:Q59GN4 No chr2 40339286 40739575 40112146 40512452 +PA313 6543 HGNC:11069 ENSG00000118160 solute carrier family 8 member A2 SLC8A2 solute carrier family 8 (sodium/calcium exchanger), member 2 KIAA1087, NCX2 Yes No Ensembl:ENSG00000118160, GenAtlas:SLC8A2, GeneCard:SLC8A2, HGNC:HGNC:11069, HumanCyc Gene:HS04194, ModBase:Q9UPR5, NCBI Gene:6543, OMIM:601901, RefSeq DNA:NT_011109, RefSeq Protein:NP_055878, RefSeq RNA:NM_015063, UniProtKB:Q9UPR5 No chr19 47931274 47975307 47428017 47472050 +PA315 6547 HGNC:11070 ENSG00000100678 solute carrier family 8 member A3 SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 NCX3 Yes No Ensembl:ENSG00000100678, GenAtlas:SLC8A3, GeneCard:SLC8A3, HGNC:HGNC:11070, HumanCyc Gene:HS02135, ModBase:P57103, NCBI Gene:6547, OMIM:607991, RefSeq DNA:NT_026437, RefSeq Protein:NP_001123889, RefSeq Protein:NP_150287, RefSeq Protein:NP_489479, RefSeq Protein:NP_891977, RefSeq Protein:NP_891981, RefSeq Protein:NP_892114, RefSeq RNA:NM_001130417, RefSeq RNA:NM_033262, RefSeq RNA:NM_058240, RefSeq RNA:NM_182932, RefSeq RNA:NM_182936, RefSeq RNA:NM_183002, UCSC Genome Browser:NM_033262, UniProtKB:B3KU59, UniProtKB:P57103, UniProtKB:Q5K3P6, UniProtKB:Q5K3P7, UniProtKB:Q96QG1, UniProtKB:Q96QG2 No chr14 70510934 70655787 70044217 70189626 +PA134954965 80024 HGNC:26175 ENSG00000089060 solute carrier family 8 member B1 SLC8B1 """solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"", ""solute carrier family 8 (sodium/lithium/calcium exchanger), member B1""" FLJ22233, NCKX6, NCLX, SLC24A6 Yes No Comparative Toxicogenomics Database:80024, Ensembl:ENSG00000089060, GeneCard:SLC24A6, HGNC:HGNC:26175, HumanCyc Gene:HS01630, ModBase:Q6J4K2, NCBI Gene:80024, OMIM:609841, RefSeq DNA:NT_009775, RefSeq Protein:NP_079235, RefSeq RNA:NM_024959, UniProtKB:Q6J4K2 No chr12 113736571 113772934 113298766 113335142 +PA35928 6548 HGNC:11071 ENSG00000090020 solute carrier family 9 member A1 SLC9A1 """Sodium/hydrogen exchanger 1"", ""protein phosphatase 1, regulatory subunit 143"", ""solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1""" APNH, NHE-1, NHE1, PPP1R143 Yes No Comparative Toxicogenomics Database:6548, Ensembl:ENSG00000090020, GenAtlas:SLC9A1, GeneCard:SLC9A1, HGNC:HGNC:11071, HumanCyc Gene:HS01671, ModBase:P19634, NCBI Gene:6548, OMIM:107310, RefSeq DNA:NT_004610, RefSeq Protein:NP_003038, RefSeq RNA:NM_003047, UCSC Genome Browser:NM_003047, UniProtKB:B2RAH2, UniProtKB:P19634 No chr1 27425300 27481621 27098809 27155130 +PA35929 6549 HGNC:11072 ENSG00000115616 solute carrier family 9 member A2 SLC9A2 solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 NHE2 Yes No Ensembl:ENSG00000115616, GenAtlas:SLC9A2, GeneCard:SLC9A2, HGNC:HGNC:11072, HumanCyc Gene:HS03919, ModBase:Q9UBY0, NCBI Gene:6549, OMIM:600530, RefSeq DNA:NT_022171, RefSeq Protein:NP_003039, RefSeq RNA:NM_003048, UCSC Genome Browser:NM_003048, UniProtKB:Q9UBY0 No chr2 103236166 103327809 102619689 102711350 +PA316 6550 HGNC:11073 ENSG00000066230 solute carrier family 9 member A3 SLC9A3 """Sodium/hydrogen exchanger 3"", ""solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3""" NHE-3, NHE3 Yes No Comparative Toxicogenomics Database:6550, Ensembl:ENSG00000066230, GenAtlas:SLC9A3, GeneCard:SLC9A3, HGNC:HGNC:11073, HumanCyc Gene:HS00870, ModBase:P48764, NCBI Gene:6550, OMIM:182307, RefSeq DNA:NT_006576, RefSeq Protein:NP_004165, RefSeq RNA:NM_004174, UCSC Genome Browser:NM_004174, UniProtKB:P48764 No chr5 473298 524549 471986 524434 +PA35930 6551 HGNC:11074 ENSG00000233011 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 1 SLC9A3P1 Yes No Ensembl:ENSG00000233011, GenAtlas:SLC9A3P, GeneCard:SLC9A3P1, HGNC:HGNC:11074, NCBI Gene:6551, RefSeq DNA:NG_006095, RefSeq DNA:NT_008583, RefSeq DNA:NT_030059 No chr10 51910338 51912326 50150391 50152586 +PA134978084 128997 HGNC:19325 ENSG00000238125 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 2 SLC9A3P2 Yes No Ensembl:ENSG00000238125, GeneCard:SLC9A3P2, HGNC:HGNC:19325, NCBI Gene:128997, RefSeq DNA:NG_005203, RefSeq DNA:NT_011520 No chr22 21007121 21009014 20652644 20654727 +PA35933 389015 HGNC:11077 ENSG00000180251 solute carrier family 9 member A4 SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 NHE4 Yes No Ensembl:ENSG00000180251, GenAtlas:SLC9A4, GeneCard:SLC9A4, HGNC:HGNC:11077, ModBase:Q6AI14, NCBI Gene:389015, OMIM:600531, RefSeq DNA:NT_022171, RefSeq Protein:NP_001011552, RefSeq RNA:NM_001011552, UniProtKB:Q6AI14 No chr2 103089173 103150433 102473282 102533974 +PA35934 6553 HGNC:11078 ENSG00000135740 solute carrier family 9 member A5 SLC9A5 solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 NHE5 Yes No Ensembl:ENSG00000135740, GenAtlas:SLC9A5, GeneCard:SLC9A5, HGNC:HGNC:11078, HumanCyc Gene:HS06055, ModBase:Q14940, NCBI Gene:6553, OMIM:600477, RefSeq DNA:NT_010498, RefSeq Protein:NP_004585, RefSeq RNA:NM_004594, UCSC Genome Browser:NM_004594, UniProtKB:Q14940, UniProtKB:Q9NSW9 No chr16 67282855 67306094 67247549 67272204 +PA35935 10479 HGNC:11079 ENSG00000198689 solute carrier family 9 member A6 SLC9A6 """Sodium/hydrogen exchanger 6"", ""solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6""" KIAA0267, NHE-6, NHE6 Yes No Comparative Toxicogenomics Database:10479, Ensembl:ENSG00000198689, GenAtlas:SLC9A6, GeneCard:SLC9A6, HGNC:HGNC:11079, ModBase:Q92581, NCBI Gene:10479, OMIM:300231, OMIM:300243, RefSeq DNA:NG_017160, RefSeq DNA:NT_011786, RefSeq Protein:NP_001036002, RefSeq Protein:NP_001171122, RefSeq Protein:NP_006350, RefSeq RNA:NM_001042537, RefSeq RNA:NM_001177651, RefSeq RNA:NM_006359, UCSC Genome Browser:NM_006359, UniProtKB:B4DU30, UniProtKB:Q3ZCW7, UniProtKB:Q5JPP8, UniProtKB:Q86VS0, UniProtKB:Q92581 No chrX 135067583 135129428 135974597 136047269 +PA38200 84679 HGNC:17123 ENSG00000065923 solute carrier family 9 member A7 SLC9A7 """Sodium/hydrogen exchanger 7"", ""solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7""" NHE-7, NHE7 Yes No Ensembl:ENSG00000065923, GenAtlas:SLC9A7, GeneCard:SLC9A7, HGNC:HGNC:17123, HumanCyc Gene:HS00859, ModBase:Q96T83, NCBI Gene:84679, OMIM:300368, RefSeq DNA:NG_012622, RefSeq DNA:NT_079573, RefSeq Protein:NP_115980, RefSeq RNA:NM_032591, UCSC Genome Browser:NM_032591, UniProtKB:Q96T83 No chrX 46458686 46618607 46599251 46759172 +PA134924114 23315 HGNC:20728 ENSG00000197818 solute carrier family 9 member A8 SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 KIAA0939, NHE8 Yes Yes Comparative Toxicogenomics Database:23315, Ensembl:ENSG00000197818, GeneCard:SLC9A8, HGNC:HGNC:20728, ModBase:Q9Y2E8, NCBI Gene:23315, OMIM:612730, RefSeq DNA:NT_011362, RefSeq Protein:NP_056081, RefSeq RNA:NM_015266, UniProtKB:Q9Y2E8 No chr20 48429250 48508779 49812713 49892242 +PA134889062 285195 HGNC:20653 ENSG00000181804 solute carrier family 9 member A9 SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 FLJ35613, NHE9 Yes Yes Comparative Toxicogenomics Database:285195, Ensembl:ENSG00000181804, GeneCard:SLC9A9, HGNC:HGNC:20653, HumanCyc Gene:HS11666, ModBase:Q8IVB4, NCBI Gene:285195, OMIM:608396, OMIM:613410, RefSeq DNA:NG_017077, RefSeq DNA:NT_005612, RefSeq Protein:NP_775924, RefSeq RNA:NM_173653, UniProtKB:Q8IVB4 No chr3 142984063 143567373 143265222 143848531 +PA162397486 150159 HGNC:24244 ENSG00000164037 solute carrier family 9 member B1 SLC9B1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 NHA1, NHEDC1 Yes No Ensembl:ENSG00000164037, GeneCard:NHEDC1, HGNC:HGNC:24244, ModBase:Q4ZJI4, NCBI Gene:150159, OMIM:611527, RefSeq DNA:NG_008662, RefSeq DNA:NT_016354, RefSeq Protein:NP_001094344, RefSeq Protein:NP_631912, RefSeq RNA:NM_001100874, RefSeq RNA:NM_139173, UniProtKB:Q4ZJI4 No chr4 103806205 103947552 102885048 103019739 +PA162397515 133308 HGNC:25143 ENSG00000164038 solute carrier family 9 member B2 SLC9B2 solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 FLJ23984, NHA2, NHEDC2 Yes No Ensembl:ENSG00000164038, GeneCard:NHEDC2, HGNC:HGNC:25143, ModBase:Q86UD5, NCBI Gene:133308, OMIM:611789, RefSeq DNA:NT_016354, RefSeq Protein:NP_849155, RefSeq RNA:NM_178833, UniProtKB:Q86UD5 No chr4 103946647 103998480 103018033 103077371 +PA134914619 285335 HGNC:31401 ENSG00000172139 solute carrier family 9 member C1 SLC9C1 """solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1"", ""sperm-NHE""" NHE, SLC9A10 Yes No Ensembl:ENSG00000172139, GeneCard:SLC9A10, HGNC:HGNC:31401, ModBase:Q4G0N8, NCBI Gene:285335, OMIM:612738, RefSeq DNA:NT_005612, RefSeq Protein:NP_898884, RefSeq RNA:NM_183061, UniProtKB:Q4G0N8 No chr3 111859752 112013105 112140898 112294258 +PA134865165 284525 HGNC:28664 ENSG00000162753 solute carrier family 9 member C2 (putative) SLC9C2 solute carrier family 9, member C2 (putative) MGC43026, SLC9A11 Yes No Ensembl:ENSG00000162753, GeneCard:SLC9A11, HGNC:HGNC:28664, ModBase:Q5TAH2, NCBI Gene:284525, RefSeq DNA:NT_004487, RefSeq Protein:NP_848622, RefSeq RNA:NM_178527, UniProtKB:B3KXW8, UniProtKB:Q5TAH2 No chr1 173469604 173572233 173500465 173603094 +PA328 6579 HGNC:10956 ENSG00000084453 solute carrier organic anion transporter family member 1A2 SLCO1A2 solute carrier organic anion transporter family, member 1A2 OATP, OATP-A, OATP1A2, SLC21A3 Yes Yes Comparative Toxicogenomics Database:6579, Ensembl:ENSG00000084453, GenAtlas:SLCO1A2, GeneCard:SLCO1A2, HGNC:HGNC:10956, HumanCyc Gene:HS01470, ModBase:P46721, NCBI Gene:6579, OMIM:602883, RefSeq DNA:NT_009714, RefSeq Protein:NP_066580, RefSeq Protein:NP_602307, RefSeq RNA:NM_021094, RefSeq RNA:NM_134431, UCSC Genome Browser:NM_005075, UniProtKB:P46721 No chr12 21417534 21548371 21264600 21403657 +PA134865839 10599 HGNC:10959 ENSG00000134538 solute carrier organic anion transporter family member 1B1 SLCO1B1 solute carrier organic anion transporter family, member 1B1 LST-1, OATP-C, OATP1B1, SLC21A6 Yes Yes Comparative Toxicogenomics Database:10599, Ensembl:ENSG00000134538, GenAtlas:SLCO1B1, GeneCard:SLCO1B1, HGNC:HGNC:10959, HumanCyc Gene:HS05882, ModBase:Q9Y6L6, NCBI Gene:10599, OMIM:604843, PharmVar Gene:SLCO1B1, RefSeq DNA:NG_011745.1, RefSeq Protein:NP_006437, RefSeq RNA:NM_006446, UCSC Genome Browser:NM_006446, UniProtKB:Q05CV5, UniProtKB:Q9Y6L6 Yes chr12 21284128 21392730 21131194 21239796 +PA35844 28234 HGNC:10961 ENSG00000111700 solute carrier organic anion transporter family member 1B3 SLCO1B3 solute carrier organic anion transporter family, member 1B3 OATP1B3, OATP8, SLC21A8 Yes Yes Comparative Toxicogenomics Database:28234, Ensembl:ENSG00000111700, GenAtlas:SLCO1B3, GeneCard:SLCO1B3, HGNC:HGNC:10961, HumanCyc Gene:HS03447, ModBase:Q9NPD5, NCBI Gene:28234, OMIM:605495, RefSeq DNA:NT_009714, RefSeq Protein:NP_062818, RefSeq RNA:NM_019844, UCSC Genome Browser:NM_019844, UniProtKB:Q9NPD5 No chr12 20963638 21070019 20810704 20916911 +PA166049008 338821 HGNC:32934 ENSG00000205754 solute carrier organic anion transporter family member 1B7 (putative) SLCO1B7 solute carrier organic anion transporter family, member 1B7 (non-functional) LST3, SLC21A21 Yes Yes Ensembl:ENSG00000205754, HGNC:HGNC:32934, NCBI Gene:338821 No chr12 21168630 21243040 21015696 21090106 +PA37815 53919 HGNC:13819 ENSG00000139155 solute carrier organic anion transporter family member 1C1 SLCO1C1 solute carrier organic anion transporter family, member 1C1 OATP-F, OATP1, OATP1C1, SLC21A14 Yes Yes Ensembl:ENSG00000139155, GenAtlas:SLCO1C1, GeneCard:SLCO1C1, HGNC:HGNC:13819, HumanCyc Gene:HS06585, ModBase:Q9NYB5, NCBI Gene:53919, OMIM:613389, RefSeq DNA:NT_009714, RefSeq Protein:NP_001139416, RefSeq Protein:NP_001139417, RefSeq Protein:NP_001139418, RefSeq Protein:NP_059131, RefSeq RNA:NM_001145944, RefSeq RNA:NM_001145945, RefSeq RNA:NM_001145946, RefSeq RNA:NM_017435, UCSC Genome Browser:NM_017435, UniProtKB:B7Z251, UniProtKB:B7Z8P1, UniProtKB:Q5JPA4, UniProtKB:Q9NYB5 No chr12 20848289 20906320 20690505 20753386 +PA35840 6578 HGNC:10955 ENSG00000174640 solute carrier organic anion transporter family member 2A1 SLCO2A1 """prostaglandin transporter"", ""solute carrier organic anion transporter family, member 2A1""" MATR1, OATP2A1, PGT, SLC21A2 Yes Yes Comparative Toxicogenomics Database:6578, Ensembl:ENSG00000174640, GenAtlas:MATR1, GenAtlas:SLCO2A1, GeneCard:MATR1, GeneCard:SLCO2A1, HGNC:HGNC:10955, HumanCyc Gene:HS10814, ModBase:Q92959, NCBI Gene:6578, OMIM:601460, RefSeq DNA:NT_005612, RefSeq Protein:NP_005621, RefSeq RNA:NM_005630, UCSC Genome Browser:NM_005630, UniProtKB:Q92959 No chr3 133651540 133748920 133932696 134030076 +PA35845 11309 HGNC:10962 ENSG00000137491 solute carrier organic anion transporter family member 2B1 SLCO2B1 solute carrier organic anion transporter family, member 2B1 OATP-B, OATP2B1, SLC21A9 Yes Yes Comparative Toxicogenomics Database:11309, Ensembl:ENSG00000137491, GenAtlas:SLCO2B1, GeneCard:SLCO2B1, HGNC:HGNC:10962, HumanCyc Gene:HS06347, ModBase:O94956, NCBI Gene:11309, OMIM:604988, RefSeq DNA:NT_167190, RefSeq Protein:NP_001138683, RefSeq Protein:NP_001138684, RefSeq Protein:NP_009187, RefSeq RNA:NM_001145211, RefSeq RNA:NM_001145212, RefSeq RNA:NM_007256, UCSC Genome Browser:NM_007256, UniProtKB:B4DGA9, UniProtKB:B4DTB0, UniProtKB:O94956 No chr11 74862032 74917445 75150987 75206400 +PA35837 28232 HGNC:10952 ENSG00000176463 solute carrier organic anion transporter family member 3A1 SLCO3A1 solute carrier organic anion transporter family, member 3A1 OATP-D, OATP3A1, SLC21A11 Yes Yes Comparative Toxicogenomics Database:28232, Ensembl:ENSG00000176463, GenAtlas:SLCO3A1, GeneCard:SLCO3A1, HGNC:HGNC:10952, HumanCyc Gene:HS16668, ModBase:Q9UIG8, NCBI Gene:28232, OMIM:612435, RefSeq DNA:NT_010274, RefSeq Protein:NP_001138516, RefSeq Protein:NP_037404, RefSeq RNA:NM_001145044, RefSeq RNA:NM_013272, UCSC Genome Browser:NM_013272, UniProtKB:Q9UIG8 No chr15 92396938 92715665 91853708 92172435 +PA35838 28231 HGNC:10953 ENSG00000101187 solute carrier organic anion transporter family member 4A1 SLCO4A1 solute carrier organic anion transporter family, member 4A1 OATP-E, OATP4A1, SLC21A12 Yes No Comparative Toxicogenomics Database:28231, Ensembl:ENSG00000101187, GenAtlas:SLCO4A1, GeneCard:SLCO4A1, HGNC:HGNC:10953, HumanCyc Gene:HS02211, ModBase:Q96BD0, NCBI Gene:28231, OMIM:612436, RefSeq DNA:NT_011333, RefSeq Protein:NP_057438, RefSeq RNA:NM_016354, UCSC Genome Browser:NM_016354, UniProtKB:Q96BD0 No chr20 61273795 61317137 62642445 62690700 +PA134892408 353189 HGNC:23612 ENSG00000173930 solute carrier organic anion transporter family member 4C1 SLCO4C1 solute carrier organic anion transporter family, member 4C1 OATP-H, OATP4C1, OATPX, SLC21A20 Yes Yes Ensembl:ENSG00000173930, GeneCard:SLCO4C1, HGNC:HGNC:23612, ModBase:Q6ZQN7, NCBI Gene:353189, OMIM:609013, RefSeq DNA:NT_034772, RefSeq Protein:NP_851322, RefSeq RNA:NM_180991, UniProtKB:Q6ZQN7 No chr5 101569690 101632253 102233986 102296549 +PA134948571 81796 HGNC:19046 ENSG00000137571 solute carrier organic anion transporter family member 5A1 SLCO5A1 solute carrier organic anion transporter family, member 5A1 OATP-J, OATP5A1, OATPRP4, SLC21A15 Yes No Comparative Toxicogenomics Database:81796, Ensembl:ENSG00000137571, GeneCard:SLCO5A1, HGNC:HGNC:19046, HumanCyc Gene:HS06362, ModBase:Q9H2Y9, NCBI Gene:81796, RefSeq DNA:NT_008183, RefSeq Protein:NP_001139480, RefSeq Protein:NP_001139481, RefSeq Protein:NP_112220, RefSeq RNA:NM_001146008, RefSeq RNA:NM_001146009, RefSeq RNA:NM_030958, UniProtKB:B3KMU7, UniProtKB:B3KUC7, UniProtKB:Q9H2Y9 No chr8 70584110 70747299 69667046 69835064 +PA134949852 133482 HGNC:23613 ENSG00000205359 solute carrier organic anion transporter family member 6A1 SLCO6A1 """cancer/testis antigen 48"", ""solute carrier organic anion transporter family, member 6A1""" CT48, MGC26949, OATP6A1, OATPY Yes Yes Ensembl:ENSG00000205359, GeneCard:SLCO6A1, HGNC:HGNC:23613, ModBase:Q86UG4, NCBI Gene:133482, OMIM:613365, RefSeq DNA:NT_034772, RefSeq Protein:NP_775759, RefSeq RNA:NM_173488, UniProtKB:Q86UG4 No chr5 101707492 101834720 102371782 102502213 +PA134911523 84250 HGNC:25408 ENSG00000133302 SMC5-SMC6 complex localization factor 1 SLF1 ankyrin repeat domain 32 ANKRD32, BRCTD1, BRCTx, DKFZp564C0469, DKFZp761C121 Yes No Ensembl:ENSG00000133302, GeneCard:ANKRD32, HGNC:HGNC:25408, HumanCyc Gene:HS13471, NCBI Gene:84250, RefSeq DNA:NT_034772, RefSeq Protein:NP_115666, RefSeq RNA:NM_032290, UniProtKB:Q9BQI6 No chr5 93953086 94033326 94613477 94697733 +PA162387411 55719 HGNC:17814 ENSG00000119906 SMC5-SMC6 complex localization factor 2 SLF2 family with sequence similarity 178, member A C10orf6, FAM178A, FLJ10512, FLJ25012 Yes No Ensembl:ENSG00000119906, GeneCard:FAM178A, HGNC:HGNC:17814, HumanCyc Gene:HS12965, ModBase:Q8IX21, NCBI Gene:55719, OMIM:610348, RefSeq DNA:NT_030059, RefSeq Protein:NP_001129595, RefSeq Protein:NP_060591, RefSeq RNA:NM_001136123, RefSeq RNA:NM_018121, RefSeq RNA:NR_024245, UniProtKB:B1AL17, UniProtKB:Q8IX21 No chr10 102672326 102724891 100910230 100965134 +PA144596358 91607 HGNC:26633 ENSG00000172716 schlafen family member 11 SLFN11 FLJ34922 Yes No Comparative Toxicogenomics Database:91607, Ensembl:ENSG00000172716, GeneCard:SLFN11, HGNC:HGNC:26633, HumanCyc Gene:HS16120, ModBase:Q7Z7L1, NCBI Gene:91607, RefSeq DNA:NT_010799, RefSeq Protein:NP_001098057, RefSeq Protein:NP_001098058, RefSeq Protein:NP_001098059, RefSeq Protein:NP_001098060, RefSeq Protein:NP_689483, RefSeq RNA:NM_001104587, RefSeq RNA:NM_001104588, RefSeq RNA:NM_001104589, RefSeq RNA:NM_001104590, RefSeq RNA:NM_152270, UniProtKB:Q7Z7L1 No chr17 33677324 33700821 35350305 35373914 +PA144596359 55106 HGNC:25500 ENSG00000172123 schlafen family member 12 SLFN12 FLJ10260 Yes No Ensembl:ENSG00000172123, GeneCard:SLFN12, HGNC:HGNC:25500, HumanCyc Gene:HS16056, ModBase:Q8IYM2, NCBI Gene:55106, RefSeq DNA:NT_010799, RefSeq Protein:NP_060512, RefSeq RNA:NM_018042, UniProtKB:Q8IYM2 No chr17 33738079 33760302 35406684 35433176 +PA162403886 100506736 HGNC:33920 ENSG00000205045 schlafen family member 12 like SLFN12L schlafen family member 12-like Yes No Ensembl:ENSG00000205045, GeneCard:SLFN12L, HGNC:HGNC:33920, NCBI Gene:100506736, RefSeq DNA:NT_010799, RefSeq Protein:NP_001138499, RefSeq RNA:NM_001145027, UniProtKB:Q6IEE8 No chr17 33801942 33814758 35474906 35537861 +PA144596360 146857 HGNC:26481 ENSG00000154760 schlafen family member 13 SLFN13 FLJ31952 Yes No Ensembl:ENSG00000154760, GeneCard:SLFN13, HGNC:HGNC:26481, HumanCyc Gene:HS14533, ModBase:Q68D06, NCBI Gene:146857, RefSeq DNA:NT_010799, RefSeq Protein:NP_653283, RefSeq RNA:NM_144682, UniProtKB:Q68D06 No chr17 33762115 33775856 35435096 35448837 +PA144596361 342618 HGNC:32689 ENSG00000236320 schlafen family member 14 SLFN14 Yes No Ensembl:ENSG00000236320, GeneCard:SLFN14, HGNC:HGNC:32689, NCBI Gene:342618, RefSeq DNA:NT_010799, RefSeq Protein:NP_001123292, RefSeq RNA:NM_001129820, UniProtKB:P0C7P3 No chr17 33874728 33886783 35545732 35560841 +PA144596357 162394 HGNC:28286 ENSG00000166750 schlafen family member 5 SLFN5 MGC19764 Yes No Ensembl:ENSG00000166750, GeneCard:SLFN5, HGNC:HGNC:28286, HumanCyc Gene:HS15477, ModBase:Q08AF3, NCBI Gene:162394, RefSeq DNA:NT_010799, RefSeq Protein:NP_659412, RefSeq RNA:NM_144975, UniProtKB:Q08AF3 No chr17 33570086 33594768 35243026 35273650 +PA144596362 200172 HGNC:26313 ENSG00000171790 schlafen like 1 SLFNL1 schlafen-like 1 FLJ23878 Yes No Comparative Toxicogenomics Database:200172, Ensembl:ENSG00000171790, GeneCard:SLFNL1, HGNC:HGNC:26313, HumanCyc Gene:HS16023, NCBI Gene:200172, RefSeq DNA:NT_032977, RefSeq Protein:NP_001161719, RefSeq Protein:NP_659427, RefSeq RNA:NM_001168247, RefSeq RNA:NM_144990, UniProtKB:Q499Z3 No chr1 41481269 41489116 41015597 41023444 +PA134892132 81892 HGNC:20495 ENSG00000119705 SRA stem-loop interacting RNA binding protein SLIRP C14orf156, DC50 Yes No Comparative Toxicogenomics Database:81892, Ensembl:ENSG00000119705, GeneCard:C14orf156, HGNC:HGNC:20495, HumanCyc Gene:HS04326, ModBase:Q9GZT3, NCBI Gene:81892, OMIM:610211, RefSeq DNA:NT_026437, RefSeq Protein:NP_112487, RefSeq RNA:NM_031210, UniProtKB:Q9GZT3 No chr14 78174414 78183941 77708071 77717598 +PA35938 6585 HGNC:11085 ENSG00000187122 slit guidance ligand 1 SLIT1 multiple EGF like domains 4, slit homolog 1 (Drosophila) MEGF4, SLIL1, SLIT3, Slit-1, slit1 Yes Yes Comparative Toxicogenomics Database:6585, Ensembl:ENSG00000187122, GenAtlas:SLIT1, GeneCard:SLIT1, HGNC:HGNC:11085, ModBase:O75093, NCBI Gene:6585, OMIM:603742, RefSeq DNA:NT_030059, RefSeq Protein:NP_003052, RefSeq RNA:NM_003061, UCSC Genome Browser:NM_003061, UniProtKB:A6H8V1, UniProtKB:O75093, UniProtKB:Q5T0V1 No chr10 98757795 98945683 96998038 97185926 +PA35939 9353 HGNC:11086 ENSG00000145147 slit guidance ligand 2 SLIT2 slit homolog 2 (Drosophila) SLIL3, Slit-2 Yes No Ensembl:ENSG00000145147, GenAtlas:SLIT2, GeneCard:SLIT2, HGNC:HGNC:11086, HumanCyc Gene:HS07229, ModBase:O94813, NCBI Gene:9353, OMIM:603746, RefSeq DNA:NT_006316, RefSeq Protein:NP_004778, RefSeq RNA:NM_004787, UCSC Genome Browser:NM_004787, UniProtKB:O94813 No chr4 20254566 20622184 20251905 20620561 +PA35940 6586 HGNC:11087 ENSG00000184347 slit guidance ligand 3 SLIT3 multiple EGF like domains 5, slit homolog 3 (Drosophila) MEGF5, SLIL2, SLIT1, Slit-3, slit2 Yes No Comparative Toxicogenomics Database:6586, Ensembl:ENSG00000184347, GenAtlas:SLIT3, GeneCard:SLIT3, HGNC:HGNC:11087, ModBase:O75094, NCBI Gene:6586, OMIM:603745, RefSeq DNA:NT_023133, RefSeq Protein:NP_003053, RefSeq RNA:NM_003062, UCSC Genome Browser:NM_003062, UniProtKB:O75094 No chr5 168088738 168728133 168661733 169301129 +PA134944423 114798 HGNC:20297 ENSG00000178235 SLIT and NTRK like family member 1 SLITRK1 SLIT and NTRK-like family, member 1 KIAA1910, LRRC12 Yes No Comparative Toxicogenomics Database:114798, Ensembl:ENSG00000178235, GeneCard:SLITRK1, HGNC:HGNC:20297, ModBase:Q96PX8, NCBI Gene:114798, OMIM:137580, OMIM:609678, OMIM:613229, RefSeq DNA:NG_016748, RefSeq DNA:NT_024524, RefSeq Protein:NP_443142, RefSeq RNA:NM_052910, UniProtKB:Q96PX8 No chr13 84451340 84456528 83877205 83882393 +PA134968225 84631 HGNC:13449 ENSG00000185985 SLIT and NTRK like family member 2 SLITRK2 SLIT and NTRK-like family, member 2 CXorf1, CXorf2, KIAA1854, SLITL1, TMEM257 Yes No Comparative Toxicogenomics Database:84631, Ensembl:ENSG00000185985, GeneCard:SLITRK2, HGNC:HGNC:13449, ModBase:Q9H156, NCBI Gene:84631, OMIM:300561, RefSeq DNA:NG_016477, RefSeq DNA:NT_011681, RefSeq Protein:NP_001137475, RefSeq Protein:NP_001137476, RefSeq Protein:NP_001137477, RefSeq Protein:NP_001137478, RefSeq Protein:NP_001137479, RefSeq Protein:NP_001137480, RefSeq Protein:NP_001137481, RefSeq Protein:NP_001137482, RefSeq Protein:NP_115928, RefSeq RNA:NM_001144003, RefSeq RNA:NM_001144004, RefSeq RNA:NM_001144005, RefSeq RNA:NM_001144006, RefSeq RNA:NM_001144007, RefSeq RNA:NM_001144008, RefSeq RNA:NM_001144009, RefSeq RNA:NM_001144010, RefSeq RNA:NM_032539, UniProtKB:B3KTY4, UniProtKB:Q9H156 No chrX 144899347 144907360 145817829 145829856 +PA134958002 22865 HGNC:23501 ENSG00000121871 SLIT and NTRK like family member 3 SLITRK3 SLIT and NTRK-like family, member 3 KIAA0848 Yes No Ensembl:ENSG00000121871, GeneCard:SLITRK3, HGNC:HGNC:23501, HumanCyc Gene:HS13030, ModBase:O94933, NCBI Gene:22865, OMIM:609679, RefSeq DNA:NT_005612, RefSeq Protein:NP_055741, RefSeq RNA:NM_014926, UniProtKB:O94933 No chr3 164902010 164914469 165186720 165197109 +PA134926932 139065 HGNC:23502 ENSG00000179542 SLIT and NTRK like family member 4 SLITRK4 SLIT and NTRK-like family, member 4 DKFZp547M2010 Yes No Comparative Toxicogenomics Database:139065, Ensembl:ENSG00000179542, GeneCard:SLITRK4, HGNC:HGNC:23502, HumanCyc Gene:HS17303, ModBase:Q8IW52, NCBI Gene:139065, OMIM:300562, RefSeq DNA:NG_021344, RefSeq DNA:NT_011786, RefSeq Protein:NP_001171678, RefSeq Protein:NP_001171679, RefSeq Protein:NP_775101, RefSeq RNA:NM_001184749, RefSeq RNA:NM_001184750, RefSeq RNA:NM_173078, UniProtKB:Q8IW52 No chrX 142710595 142723926 143622790 143636107 +PA134885524 26050 HGNC:20295 ENSG00000165300 SLIT and NTRK like family member 5 SLITRK5 SLIT and NTRK-like family, member 5 KIAA0918, LRRC11, bA364G4.2 Yes Yes Ensembl:ENSG00000165300, GeneCard:SLITRK5, HGNC:HGNC:20295, ModBase:O94991, NCBI Gene:26050, OMIM:609680, RefSeq DNA:NT_009952, RefSeq Protein:NP_056382, RefSeq RNA:NM_015567, UniProtKB:O94991 No chr13 88323931 88331871 87671328 87679619 +PA134928433 84189 HGNC:23503 ENSG00000184564 SLIT and NTRK like family member 6 SLITRK6 SLIT and NTRK-like family, member 6 FLJ22774 Yes No Ensembl:ENSG00000184564, GeneCard:SLITRK6, HGNC:HGNC:23503, HumanCyc Gene:HS16942, ModBase:Q9H5Y7, NCBI Gene:84189, OMIM:609681, RefSeq DNA:NT_024524, RefSeq Protein:NP_115605, RefSeq RNA:NM_032229, UniProtKB:Q9H5Y7 No chr13 86366922 86373483 85792787 85799348 +PA35941 9748 HGNC:11088 ENSG00000065613 STE20 like kinase SLK STE20-like kinase KIAA0204, STK2, se20-9 Yes No Comparative Toxicogenomics Database:9748, Ensembl:ENSG00000065613, GenAtlas:SLK, GeneCard:SLK, HGNC:HGNC:11088, HumanCyc Gene:HS00848, ModBase:Q9H2G2, NCBI Gene:9748, RefSeq DNA:NT_030059, RefSeq Protein:NP_055535, RefSeq RNA:NM_014720, UniProtKB:Q9H2G2 No chr10 105726943 105788991 103967173 104029233 +PA38179 7871 HGNC:16643 ENSG00000163681 sarcolemma associated protein SLMAP Sarcolemmal-associated protein KIAA1601, SLAP Yes No Ensembl:ENSG00000163681, GenAtlas:SLMAP, GeneCard:SLMAP, HGNC:HGNC:16643, HumanCyc Gene:HS08911, NCBI Gene:7871, OMIM:602701, RefSeq DNA:NT_022517, RefSeq Protein:NP_009090, RefSeq RNA:NM_007159, UCSC Genome Browser:NM_007159, UniProtKB:Q14BN4 No chr3 57741948 57915597 57756221 57930013 +PA35942 6588 HGNC:11089 ENSG00000170290 sarcolipin SLN MGC12301, MGC125854, MGC125855 Yes No Comparative Toxicogenomics Database:6588, Ensembl:ENSG00000170290, GenAtlas:SLN, GeneCard:SLN, HGNC:HGNC:11089, ModBase:O00631, NCBI Gene:6588, OMIM:602203, RefSeq DNA:NT_033899, RefSeq Protein:NP_003054, RefSeq RNA:NM_003063, UCSC Genome Browser:NM_003063, UniProtKB:O00631, UniProtKB:Q6ICV3 No chr11 107578101 107582787 107707375 107712061 +PA35944 6590 HGNC:11092 ENSG00000124107 secretory leukocyte peptidase inhibitor SLPI antileukoproteinase ALK1, ALP, BLPI, HUSI, HUSI-I, WAP4, WFDC4 Yes No Comparative Toxicogenomics Database:6590, Ensembl:ENSG00000124107, GenAtlas:SLPI, GeneCard:SLPI, HGNC:HGNC:11092, HumanCyc Gene:HS04714, ModBase:P03973, NCBI Gene:6590, OMIM:107285, RefSeq DNA:NT_011362, RefSeq Protein:NP_003055, RefSeq RNA:NM_003064, UCSC Genome Browser:NM_003064, UniProtKB:P03973 No chr20 43880880 43883205 45252239 45254564 +PA142670898 79811 HGNC:20709 ENSG00000137776 SAFB like transcription modulator SLTM SAFB-like, transcription modulator FLJ13213, Met Yes No Ensembl:ENSG00000137776, GeneCard:SLTM, HGNC:HGNC:20709, HumanCyc Gene:HS06394, ModBase:Q9H8U9, NCBI Gene:79811, RefSeq DNA:NT_010194, RefSeq Protein:NP_001013865, RefSeq Protein:NP_079031, RefSeq RNA:NM_001013843, RefSeq RNA:NM_024755, UniProtKB:Q9NWH9 No chr15 59171244 59226323 58879045 58934313 +PA128394574 10569 HGNC:16939 ENSG00000164609 SLU7 homolog, splicing factor SLU7 SLU7 splicing factor homolog (S. cerevisiae), zinc knuckle motif containing 9G8 Yes No Ensembl:ENSG00000164609, GeneCard:SLU7, HGNC:HGNC:16939, HumanCyc Gene:HS09102, NCBI Gene:10569, OMIM:605974, RefSeq DNA:NT_023133, RefSeq Protein:NP_006416, RefSeq RNA:NM_006425, UCSC Genome Browser:NM_006425, UniProtKB:O95391 No chr5 159828648 159846168 160401641 160419161 +PA134936818 57152 HGNC:18746 ENSG00000126233 secreted LY6/PLAUR domain containing 1 SLURP1 ARS component B, lymphocyte antigen 6-like secreted ANUP, ARS, ArsB, LY6-MT, LY6LS, MDM Yes No Comparative Toxicogenomics Database:57152, Ensembl:ENSG00000126233, GeneCard:SLURP1, HGNC:HGNC:18746, HumanCyc Gene:HS05002, ModBase:P55000, NCBI Gene:57152, OMIM:248300, OMIM:606119, RefSeq DNA:NG_011494, RefSeq DNA:NT_008046, RefSeq Protein:NP_065160, RefSeq RNA:NM_020427, UniProtKB:P55000 No chr8 143822362 143823829 142740944 142742411 +PA166181638 432355 HGNC:25549 ENSG00000283992 secreted LY6/PLAUR domain containing 2 SLURP2 Yes No Ensembl:ENSG00000283992, HGNC:HGNC:25549, NCBI Gene:432355 No 0 0 0 0 +PA142671737 548593 HGNC:20922 ENSG00000132207, ENSG00000181625 SLX1 homolog A, structure-specific endonuclease subunit SLX1A SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae) GIYD1 Yes No Ensembl:ENSG00000132207, Ensembl:ENSG00000181625, GeneCard:SLX1A, HGNC:HGNC:20922, NCBI Gene:548593, RefSeq DNA:NG_005305, RefSeq DNA:NT_010393, RefSeq Protein:NP_001014999, RefSeq Protein:NP_001015000, RefSeq RNA:NM_001014999, RefSeq RNA:NM_001015000 No chr16 30205164 30208887 30193843 30197566 +PA142671738 79008 HGNC:28748 ENSG00000181625 SLX1 homolog B, structure-specific endonuclease subunit SLX1B SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) GIYD2, MGC5178 Yes No Comparative Toxicogenomics Database:79008, Ensembl:ENSG00000181625, GeneCard:GIYD2, HGNC:HGNC:28748, ModBase:Q9BQ83, NCBI Gene:79008, RefSeq DNA:NG_005304, RefSeq DNA:NT_010393, RefSeq Protein:NP_076949, RefSeq Protein:NP_835145, RefSeq RNA:NM_024044, RefSeq RNA:NM_178044, UniProtKB:Q9BQ83 No chr16 29465822 29469545 29454501 29458224 +PA134983583 84464 HGNC:23845 ENSG00000188827 SLX4 structure-specific endonuclease subunit SLX4 """Fanconi anemia, complementation group P"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)""" BTBD12, FANCP, KIAA1784, KIAA1987 Yes No Comparative Toxicogenomics Database:84464, Ensembl:ENSG00000188827, GeneCard:BTBD12, HGNC:HGNC:23845, ModBase:Q8IY92, NCBI Gene:84464, OMIM:613278, RefSeq DNA:NT_010393, RefSeq Protein:NP_115820, RefSeq RNA:NM_032444, UniProtKB:Q8IY92 No chr16 3631182 3661585 3581181 3611598 +PA25801 128710 HGNC:16225 ENSG00000149346 SLX4 interacting protein SLX4IP C20orf94, dJ1099D15.3 Yes No Ensembl:ENSG00000149346, GenAtlas:C20orf94, GeneCard:C20orf94, HGNC:HGNC:16225, ModBase:Q5VYV7, NCBI Gene:128710, RefSeq DNA:NT_011387, RefSeq Protein:NP_001009608, RefSeq RNA:NM_001009608, UniProtKB:Q5VYV7 No chr20 10415951 10604551 10434453 10628138 +PA166352127 85395 HGNC:15811 SLX9 ribosome biogenesis factor SLX9 C21orf70, FAM207A PRED56 Yes No HGNC:HGNC:15811, NCBI Gene:85395 No 0 0 0 0 +PA128394582 11042 SMA5 (non-HGNC gene) SMA5 Yes No Comparative Toxicogenomics Database:11042, NCBI Gene:11042, RefSeq DNA:NT_006713, RefSeq DNA:NT_113801, RefSeq Protein:NP_066366, RefSeq RNA:NM_021036, RefSeq RNA:NR_034021 No chr5 69776870 69881549 70481043 70585722 +PA30524 4086 HGNC:6767 ENSG00000170365 SMAD family member 1 SMAD1 JV4-1, MADH1, MADR1 Yes No Comparative Toxicogenomics Database:4086, Ensembl:ENSG00000170365, GenAtlas:SMAD1, GeneCard:SMAD1, HGNC:HGNC:6767, HumanCyc Gene:HS10112, ModBase:Q15797, NCBI Gene:4086, OMIM:601595, RefSeq DNA:NT_016354, RefSeq Protein:NP_001003688, RefSeq Protein:NP_005891, RefSeq RNA:NM_001003688, RefSeq RNA:NM_005900, UCSC Genome Browser:NM_005900, UniProtKB:Q15797 No chr4 146402951 146480328 145481306 145559176 +PA134959722 4087 HGNC:6768 ENSG00000175387 SMAD family member 2 SMAD2 JV18-1, MADH2, MADR2 Yes No Comparative Toxicogenomics Database:4087, Ensembl:ENSG00000175387, GenAtlas:SMAD2, GeneCard:SMAD2, HGNC:HGNC:6768, HumanCyc Gene:HS10922, ModBase:Q15796, NCBI Gene:4087, OMIM:601366, RefSeq DNA:NT_010966, RefSeq Protein:NP_001003652, RefSeq Protein:NP_001129409, RefSeq Protein:NP_005892, RefSeq RNA:NM_001003652, RefSeq RNA:NM_001135937, RefSeq RNA:NM_005901, UCSC Genome Browser:NM_005901, UniProtKB:Q15796, UniProtKB:Q53XR6 No chr18 45359466 45457564 47833095 47931193 +PA30526 4088 HGNC:6769 ENSG00000166949 SMAD family member 3 SMAD3 HsT17436, JV15-2, MADH3 Yes Yes Comparative Toxicogenomics Database:4088, Ensembl:ENSG00000166949, GenAtlas:SMAD3, GeneCard:SMAD3, HGNC:HGNC:6769, HumanCyc Gene:HS09489, ModBase:P84022, NCBI Gene:4088, OMIM:603109, RefSeq DNA:NG_011990, RefSeq DNA:NT_010194, RefSeq Protein:NP_001138574, RefSeq Protein:NP_001138575, RefSeq Protein:NP_001138576, RefSeq Protein:NP_005893, RefSeq RNA:NM_001145102, RefSeq RNA:NM_001145103, RefSeq RNA:NM_001145104, RefSeq RNA:NM_005902, UCSC Genome Browser:NM_005902, UniProtKB:B7Z4Z5, UniProtKB:B7Z9Q2, UniProtKB:P84022 No chr15 67358036 67487533 67065698 67195195 +PA30527 4089 HGNC:6770 ENSG00000141646 SMAD family member 4 SMAD4 DPC4, MADH4 Yes No Comparative Toxicogenomics Database:4089, Ensembl:ENSG00000141646, GenAtlas:SMAD4, GeneCard:SMAD4, HGNC:HGNC:6770, HumanCyc Gene:HS06859, ModBase:Q13485, NCBI Gene:4089, OMIM:174900, OMIM:175050, OMIM:600993, RefSeq DNA:NG_013013, RefSeq DNA:NT_010966, RefSeq Protein:NP_005350, RefSeq RNA:NM_005359, UCSC Genome Browser:NM_005359, UniProtKB:Q13485 No chr18 48556583 48611412 51030213 51085042 +PA30528 4090 HGNC:6771 ENSG00000113658 SMAD family member 5 SMAD5 Dwfc, JV5-1, MADH5 Yes No Comparative Toxicogenomics Database:4090, Ensembl:ENSG00000113658, GenAtlas:SMAD5, GeneCard:SMAD5, HGNC:HGNC:6771, HumanCyc Gene:HS03708, ModBase:Q99717, NCBI Gene:4090, OMIM:603110, RefSeq DNA:NT_034772, RefSeq Protein:NP_001001419, RefSeq Protein:NP_001001420, RefSeq Protein:NP_005894, RefSeq RNA:NM_001001419, RefSeq RNA:NM_001001420, RefSeq RNA:NM_005903, UCSC Genome Browser:NM_005903, UniProtKB:Q68DB7, UniProtKB:Q99717 No chr5 135468536 135518422 136132845 136182734 +PA164725848 9597 HGNC:30586 ENSG00000164621 SMAD5 antisense RNA 1 SMAD5-AS1 DAMS Yes No Ensembl:ENSG00000164621, GeneCard:SMAD5OS, HGNC:HGNC:30586, HumanCyc Gene:HS09109, NCBI Gene:9597, RefSeq DNA:NT_034772, RefSeq RNA:NR_026763 No chr5 135465202 135470579 136129513 136134890 +PA30529 4091 HGNC:6772 ENSG00000137834 SMAD family member 6 SMAD6 HsT17432, MADH6, MADH7 Yes No Comparative Toxicogenomics Database:4091, Ensembl:ENSG00000137834, GenAtlas:SMAD6, GeneCard:SMAD6, HGNC:HGNC:6772, HumanCyc Gene:HS06407, ModBase:O43541, NCBI Gene:4091, OMIM:602931, RefSeq DNA:NG_012244, RefSeq DNA:NT_010194, RefSeq Protein:NP_001136333, RefSeq Protein:NP_005576, RefSeq RNA:NM_001142861, RefSeq RNA:NM_005585, RefSeq RNA:NR_027654, UCSC Genome Browser:NM_005585, UniProtKB:O43541 No chr15 66994674 67074338 66702110 66782000 +PA134875286 4092 HGNC:6773 ENSG00000101665 SMAD family member 7 SMAD7 MADH7, MADH8 Yes Yes Comparative Toxicogenomics Database:4092, Ensembl:ENSG00000101665, GenAtlas:SMAD7, GeneCard:SMAD7, HGNC:HGNC:6773, HumanCyc Gene:HS02297, ModBase:O15105, NCBI Gene:4092, OMIM:114500, OMIM:602932, OMIM:612229, RefSeq DNA:NG_023330, RefSeq DNA:NT_010966, RefSeq Protein:NP_001177750, RefSeq Protein:NP_001177751, RefSeq Protein:NP_001177752, RefSeq Protein:NP_005895, RefSeq RNA:NM_001190821, RefSeq RNA:NM_001190822, RefSeq RNA:NM_001190823, RefSeq RNA:NM_005904, UCSC Genome Browser:NM_005904, UniProtKB:O15105 No chr18 46446223 46477081 48919853 48950711 +PA30531 4093 HGNC:6774 ENSG00000120693 SMAD family member 9 SMAD9 MADH6, MADH9, SMAD8, SMAD8/9 Yes No Comparative Toxicogenomics Database:4093, Ensembl:ENSG00000120693, GenAtlas:SMAD9, GeneCard:SMAD9, HGNC:HGNC:6774, HumanCyc Gene:HS04421, ModBase:O15198, NCBI Gene:4093, OMIM:178600, OMIM:603295, RefSeq DNA:NG_016963, RefSeq DNA:NT_024524, RefSeq Protein:NP_001120689, RefSeq Protein:NP_005896, RefSeq RNA:NM_001127217, RefSeq RNA:NM_005905, UCSC Genome Browser:NM_005905, UniProtKB:O15198 No chr13 37418968 37494409 36844831 36920721 +PA165513352 57228 HGNC:26918 ENSG00000170545 small cell adhesion glycoprotein SMAGP small trans-membrane and glycosylated protein MGC149453, MGC149454, hSMAGP Yes No Ensembl:ENSG00000170545, GeneCard:SMAGP, HGNC:HGNC:26918, HumanCyc Gene:HS15896, NCBI Gene:57228, RefSeq DNA:NT_029419, RefSeq Protein:NP_001026798, RefSeq Protein:NP_001029045, RefSeq RNA:NM_001031628, RefSeq RNA:NM_001033873, UCSC Genome Browser:NM_020467, UniProtKB:Q0VAQ4 No chr12 51639133 51664202 51245349 51270418 +PA134893764 60682 HGNC:19651 ENSG00000112305 small ArfGAP 1 SMAP1 FLJ13159, SMAP-1 Yes No Ensembl:ENSG00000112305, GeneCard:SMAP1, HGNC:HGNC:19651, HumanCyc Gene:HS03555, ModBase:Q8IYB5, NCBI Gene:60682, OMIM:611372, RefSeq DNA:NT_007299, RefSeq Protein:NP_001037770, RefSeq Protein:NP_068759, RefSeq RNA:NM_001044305, RefSeq RNA:NM_021940, UniProtKB:Q8IYB5 No chr6 71377474 71571718 70667771 70862015 +PA162403939 64744 HGNC:25082 ENSG00000084070 small ArfGAP2 SMAP2 SMAP1L Yes No Ensembl:ENSG00000084070, GeneCard:SMAP2, HGNC:HGNC:25082, HumanCyc Gene:HS01462, ModBase:Q8WU79, NCBI Gene:64744, RefSeq DNA:NT_032977, RefSeq Protein:NP_001185907, RefSeq Protein:NP_001185908, RefSeq Protein:NP_001185909, RefSeq Protein:NP_073570, RefSeq RNA:NM_001198978, RefSeq RNA:NM_001198979, RefSeq RNA:NM_001198980, RefSeq RNA:NM_022733, UniProtKB:Q8WU79 No chr1 40839378 40888998 40373706 40423326 +PA35947 6594 HGNC:11097 ENSG00000102038 SNF2 related chromatin remodeling ATPase 1 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SWI, hSNF2L Yes No Comparative Toxicogenomics Database:6594, Ensembl:ENSG00000102038, GenAtlas:SMARCA1, GeneCard:SMARCA1, HGNC:HGNC:11097, HumanCyc Gene:HS02339, ModBase:P28370, NCBI Gene:6594, OMIM:300012, RefSeq DNA:NG_012526, RefSeq DNA:NT_011786, RefSeq Protein:NP_003060, RefSeq Protein:NP_620604, RefSeq RNA:NM_003069, RefSeq RNA:NM_139035, UCSC Genome Browser:NM_003069, UniProtKB:P28370, UniProtKB:Q86UA8 No chrX 128580478 128657490 129446501 129523564 +PA35948 6595 HGNC:11098 ENSG00000080503 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 SMARCA2 """SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2"", ""brahma homolog""" BAF190, BRM, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a Yes No Comparative Toxicogenomics Database:6595, Ensembl:ENSG00000080503, GenAtlas:SMARCA2, GeneCard:SMARCA2, HGNC:HGNC:11098, HumanCyc Gene:HS01357, ModBase:P51531, NCBI Gene:6595, OMIM:600014, RefSeq DNA:NT_008413, RefSeq Protein:NP_003061, RefSeq Protein:NP_620614, RefSeq RNA:NM_003070, RefSeq RNA:NM_139045, UCSC Genome Browser:NM_003070, UniProtKB:P51531, UniProtKB:Q56A76, UniProtKB:Q8N9Q1 No chr9 2015342 2193624 2015219 2193624 +PA35950 6597 HGNC:11100 ENSG00000127616 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 SMARCA4 """ATP-dependent helicase SMARCA4"", ""BRM/SWI2-related gene 1"", ""SNF2-like 4"", ""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"", ""brahma protein-like 1"", ""global transcription activator homologous sequence"", ""homeotic gene regulator"", ""mitotic growth and transcription activator"", ""nuclear protein GRB1"", ""sucrose nonfermenting-like 4""" BAF190, BRG1, FLJ39786, SNF2, SNF2-BETA, SNF2L4, SNF2LB, SWI2, hSNF2b Yes No Comparative Toxicogenomics Database:6597, Ensembl:ENSG00000127616, GenAtlas:SMARCA4, GeneCard:SMARCA4, HGNC:HGNC:11100, HumanCyc Gene:HS05122, ModBase:P51532, NCBI Gene:6597, OMIM:603254, OMIM:613325, RefSeq DNA:NG_011556, RefSeq DNA:NT_011295, RefSeq Protein:NP_001122316, RefSeq Protein:NP_001122317, RefSeq Protein:NP_001122318, RefSeq Protein:NP_001122319, RefSeq Protein:NP_001122320, RefSeq Protein:NP_001122321, RefSeq Protein:NP_003063, RefSeq RNA:NM_001128844, RefSeq RNA:NM_001128845, RefSeq RNA:NM_001128846, RefSeq RNA:NM_001128847, RefSeq RNA:NM_001128848, RefSeq RNA:NM_001128849, RefSeq RNA:NM_003072, UCSC Genome Browser:NM_003072, UniProtKB:A7E2E1, UniProtKB:B1A8Z4, UniProtKB:B1A8Z5, UniProtKB:B1A8Z6, UniProtKB:B1A8Z7, UniProtKB:B3KNW7, UniProtKB:P51532, UniProtKB:Q9HBD4 No chr19 11071598 11172958 10960922 11062282 +PA35951 8467 HGNC:11101 ENSG00000153147 SNF2 related chromatin remodeling ATPase 5 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 ISWI, hISWI, hSNF2H Yes No Comparative Toxicogenomics Database:8467, Ensembl:ENSG00000153147, GenAtlas:SMARCA5, GeneCard:SMARCA5, HGNC:HGNC:11101, HumanCyc Gene:HS07886, ModBase:O60264, NCBI Gene:8467, OMIM:603375, RefSeq DNA:NT_016354, RefSeq Protein:NP_003592, RefSeq RNA:NM_003601, UCSC Genome Browser:NM_003601, UniProtKB:O60264 No chr4 144434616 144478642 143513463 143557489 +PA134954731 56916 HGNC:18398 ENSG00000163104 SNF2 related chromatin remodeling ATPase with DExD box 1 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 DKFZP762K2015, DKFZp762K2015, ETL1, KIAA1122 Yes Yes Comparative Toxicogenomics Database:56916, Ensembl:ENSG00000163104, GeneCard:SMARCAD1, HGNC:HGNC:18398, HumanCyc Gene:HS08787, ModBase:Q9H4L7, NCBI Gene:56916, OMIM:612761, RefSeq DNA:NT_016354, RefSeq Protein:NP_001121901, RefSeq Protein:NP_001121902, RefSeq Protein:NP_064544, RefSeq RNA:NM_001128429, RefSeq RNA:NM_001128430, RefSeq RNA:NM_020159, UniProtKB:Q9H4L7 No chr4 95128759 95212443 94207608 94291292 +PA35952 50485 HGNC:11102 ENSG00000138375 SNF2 related chromatin remodeling annealing helicase 1 SMARCAL1 """ATP-driven annealing helicase"", ""HepA-related protein"", ""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1"", ""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1""" HARP, HHARP Yes No Comparative Toxicogenomics Database:50485, Ensembl:ENSG00000138375, GenAtlas:SMARCAL1, GeneCard:SMARCAL1, HGNC:HGNC:11102, HumanCyc Gene:HS06491, ModBase:Q9NZC9, NCBI Gene:50485, OMIM:242900, OMIM:606622, RefSeq DNA:NG_009771, RefSeq DNA:NT_005403, RefSeq Protein:NP_001120679, RefSeq Protein:NP_054859, RefSeq RNA:NM_001127207, RefSeq RNA:NM_014140, UCSC Genome Browser:NM_014140, UniProtKB:Q9NZC9 No chr2 217277137 217347776 216412414 216483053 +PA35953 6598 HGNC:11103 ENSG00000099956 SWI/SNF related BAF chromatin remodeling complex subunit B1 SMARCB1 """SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"", ""sucrose nonfermenting, yeast, homolog-like 1""" BAF47, INI-1, Ini1, PPP1R144, RDT, SNF5, SNF5L1, Sfh1p, Snr1, hSNFS Yes No Comparative Toxicogenomics Database:6598, Ensembl:ENSG00000099956, GenAtlas:SMARCB1, GeneCard:SMARCB1, HGNC:HGNC:11103, HumanCyc Gene:HS01937, ModBase:Q12824, NCBI Gene:6598, OMIM:601607, OMIM:609322, RefSeq DNA:NG_009303, RefSeq DNA:NT_011520, RefSeq Protein:NP_001007469, RefSeq Protein:NP_003064, RefSeq RNA:NM_001007468, RefSeq RNA:NM_003073, UCSC Genome Browser:NM_003073, UniProtKB:Q12824, UniProtKB:Q17S11, UniProtKB:Q9H836 No chr22 24129150 24176705 23786931 23834518 +PA35954 6599 HGNC:11104 ENSG00000173473 SWI/SNF related BAF chromatin remodeling complex subunit C1 SMARCC1 """SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1"", ""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1""" BAF155, CRACC1, Rsc8, SRG3 Yes No Comparative Toxicogenomics Database:6599, Ensembl:ENSG00000173473, GenAtlas:SMARCC1, GeneCard:SMARCC1, HGNC:HGNC:11104, HumanCyc Gene:HS10672, ModBase:Q92922, NCBI Gene:6599, OMIM:601732, RefSeq DNA:NT_022517, RefSeq Protein:NP_003065, RefSeq RNA:NM_003074, UCSC Genome Browser:NM_003074, UniProtKB:Q58EY4, UniProtKB:Q92922 No chr3 47627378 47823405 47585888 47781915 +PA35955 6601 HGNC:11105 ENSG00000139613 SWI/SNF related BAF chromatin remodeling complex subunit C2 SMARCC2 """SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2"", ""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2""" BAF170, CRACC2, Rsc8 Yes No Ensembl:ENSG00000139613, GenAtlas:SMARCC2, GeneCard:SMARCC2, HGNC:HGNC:11105, HumanCyc Gene:HS06635, ModBase:Q8TAQ2, NCBI Gene:6601, OMIM:601734, RefSeq DNA:NT_029419, RefSeq Protein:NP_001123892, RefSeq Protein:NP_003066, RefSeq Protein:NP_620706, RefSeq RNA:NM_001130420, RefSeq RNA:NM_003075, RefSeq RNA:NM_139067, UCSC Genome Browser:NM_003075, UniProtKB:Q59GV3, UniProtKB:Q8TAQ2 No chr12 56555636 56583351 56161852 56189567 +PA35956 6602 HGNC:11106 ENSG00000066117 SWI/SNF related BAF chromatin remodeling complex subunit D1 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 BAF60A, CRACD1, Rsc6p Yes No Comparative Toxicogenomics Database:6602, Ensembl:ENSG00000066117, GenAtlas:SMARCD1, GeneCard:SMARCD1, HGNC:HGNC:11106, HumanCyc Gene:HS00867, ModBase:Q96GM5, NCBI Gene:6602, OMIM:601735, RefSeq DNA:NT_029419, RefSeq Protein:NP_003067, RefSeq Protein:NP_620710, RefSeq RNA:NM_003076, RefSeq RNA:NM_139071, UCSC Genome Browser:NM_003076, UniProtKB:Q96GM5 No chr12 50478760 50494494 50085200 50100711 +PA35957 6603 HGNC:11107 ENSG00000108604 SWI/SNF related BAF chromatin remodeling complex subunit D2 SMARCD2 """SWI/SNF complex 60 kDa subunit B"", ""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""mammalian chromatin remodeling complex BRG1-associated factor 60B""" BAF60B, CRACD2, PRO2451, Rsc6p Yes No Comparative Toxicogenomics Database:6603, Ensembl:ENSG00000108604, GenAtlas:SMARCD2, GeneCard:SMARCD2, HGNC:HGNC:11107, HumanCyc Gene:HS03134, ModBase:Q92925, NCBI Gene:6603, OMIM:601736, RefSeq DNA:NT_010783, RefSeq Protein:NP_001091896, RefSeq Protein:NP_003068, RefSeq RNA:NM_001098426, RefSeq RNA:NM_003077, UCSC Genome Browser:NM_003077, UniProtKB:B4DV56 No chr17 61909441 61920699 63832081 63842991 +PA35958 6604 HGNC:11108 ENSG00000082014 SWI/SNF related BAF chromatin remodeling complex subunit D3 SMARCD3 """60kDa BRG-1/Brm associated factor subunit c"", ""SWI/SNF complex 60 kDa subunit C"", ""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3"", ""Swp73-like protein"", ""mammalian chromatin remodeling complex BRG1-associated factor 60C""" BAF60C, CRACD3, Rsc6p Yes No Ensembl:ENSG00000082014, GenAtlas:SMARCD3, GeneCard:SMARCD3, HGNC:HGNC:11108, HumanCyc Gene:HS01410, ModBase:Q6STE5, NCBI Gene:6604, OMIM:601737, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001003801, RefSeq Protein:NP_001003802, RefSeq Protein:NP_003069, RefSeq RNA:NM_001003801, RefSeq RNA:NM_001003802, RefSeq RNA:NM_003078, UCSC Genome Browser:NM_003078, UniProtKB:Q6STE5 No chr7 150936059 150974231 151238973 151277436 +PA35959 6605 HGNC:11109 ENSG00000073584 SWI/SNF related BAF chromatin remodeling complex subunit E1 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 BAF57 Yes No Ensembl:ENSG00000073584, GenAtlas:SMARCE1, GeneCard:SMARCE1, HGNC:HGNC:11109, HumanCyc Gene:HS01107, ModBase:Q969G3, NCBI Gene:6605, OMIM:603111, RefSeq DNA:NT_010783, RefSeq Protein:NP_003070, RefSeq RNA:NM_003079, UCSC Genome Browser:NM_003079, UniProtKB:Q969G3 No chr17 38781214 38805658 40627720 40647851 +PA35961 8243 HGNC:11111 ENSG00000072501 structural maintenance of chromosomes 1A SMC1A DXS423E, KIAA0178, SB1.8, SMC1L1, Smcb Yes No Comparative Toxicogenomics Database:8243, Ensembl:ENSG00000072501, GenAtlas:SMC1A, GeneCard:SMC1A, HGNC:HGNC:11111, HumanCyc Gene:HS01070, ModBase:Q14683, NCBI Gene:8243, OMIM:300040, OMIM:300590, RefSeq DNA:NG_006988, RefSeq DNA:NT_011630, RefSeq Protein:NP_006297, RefSeq RNA:NM_006306, UCSC Genome Browser:NM_006306, UniProtKB:Q14683 No chrX 53401070 53449677 53374149 53422728 +PA35962 27127 HGNC:11112 ENSG00000077935 structural maintenance of chromosomes 1B SMC1B SMC1L2, bK268H5 Yes No Ensembl:ENSG00000077935, GenAtlas:SMC1B, GeneCard:SMC1B, HGNC:HGNC:11112, HumanCyc Gene:HS01260, ModBase:Q8NDV3, NCBI Gene:27127, OMIM:608685, RefSeq DNA:NT_011520, RefSeq Protein:NP_683515, RefSeq RNA:NM_148674, UCSC Genome Browser:NM_148674, UniProtKB:Q8NDV3 No chr22 45739944 45809500 45344063 45413671 +PA37833 10592 HGNC:14011 ENSG00000136824 structural maintenance of chromosomes 2 SMC2 CAP-E, SMC2L1, hCAP-E Yes No Comparative Toxicogenomics Database:10592, Ensembl:ENSG00000136824, GenAtlas:SMC2, GeneCard:SMC2, HGNC:HGNC:14011, HumanCyc Gene:HS06217, ModBase:O95347, NCBI Gene:10592, OMIM:605576, RefSeq DNA:NT_008470, RefSeq Protein:NP_001036015, RefSeq Protein:NP_001036016, RefSeq Protein:NP_006435, RefSeq RNA:NM_001042550, RefSeq RNA:NM_001042551, RefSeq RNA:NM_006444, UCSC Genome Browser:NM_006444, UniProtKB:B3KMB1, UniProtKB:O95347, UniProtKB:Q05BV1, UniProtKB:Q05D74, UniProtKB:Q6IPS5, UniProtKB:Q7Z2X1 No chr9 106856213 106903700 104093808 104141419 +PA26966 9126 HGNC:2468 ENSG00000108055 structural maintenance of chromosomes 3 SMC3 bamacan proteoglycan BAM, CSPG6, HCAP, SMC3L1, bamacan Yes No Comparative Toxicogenomics Database:9126, Ensembl:ENSG00000108055, GenAtlas:SMC3, GeneCard:SMC3, HGNC:HGNC:2468, HumanCyc Gene:HS03059, ModBase:Q9UQE7, NCBI Gene:9126, OMIM:606062, OMIM:610759, RefSeq DNA:NG_012217, RefSeq DNA:NT_030059, RefSeq Protein:NP_005436, RefSeq RNA:NM_005445, UCSC Genome Browser:NM_005445, UniProtKB:Q9UQE7 No chr10 112327449 112364392 110567691 110604634 +PA37834 10051 HGNC:14013 ENSG00000113810 structural maintenance of chromosomes 4 SMC4 CAP-C, SMC4L1, hCAP-C Yes No Comparative Toxicogenomics Database:10051, Ensembl:ENSG00000113810, GenAtlas:SMC4, GeneCard:SMC4, HGNC:HGNC:14013, HumanCyc Gene:HS03721, ModBase:Q9NTJ3, NCBI Gene:10051, OMIM:605575, RefSeq DNA:NT_005612, RefSeq Protein:NP_001002800, RefSeq Protein:NP_005487, RefSeq RNA:NM_001002800, RefSeq RNA:NM_005496, UCSC Genome Browser:NM_005496, UniProtKB:Q9NTJ3 No chr3 160117078 160152755 160399304 160434962 +PA134993662 23137 HGNC:20465 ENSG00000198887 structural maintenance of chromosomes 5 SMC5 KIAA0594, SMC5L1 Yes No Comparative Toxicogenomics Database:23137, Ensembl:ENSG00000198887, GeneCard:SMC5, HGNC:HGNC:20465, ModBase:Q8IY18, NCBI Gene:23137, OMIM:609386, RefSeq DNA:NT_008470, RefSeq Protein:NP_055925, RefSeq RNA:NM_015110, UniProtKB:Q8IY18 No chr9 72873878 72969789 70258962 70354873 +PA134892702 79677 HGNC:20466 ENSG00000163029 structural maintenance of chromosomes 6 SMC6 FLJ22116, SMC6L1 Yes No Ensembl:ENSG00000163029, GeneCard:SMC6, HGNC:HGNC:20466, HumanCyc Gene:HS08774, ModBase:Q96SB8, NCBI Gene:79677, OMIM:609387, RefSeq DNA:NT_015926, RefSeq Protein:NP_001135758, RefSeq Protein:NP_078900, RefSeq RNA:NM_001142286, RefSeq RNA:NM_024624, UniProtKB:Q96SB8 No chr2 17845079 17935096 17663812 17753831 +PA128395776 23347 HGNC:29090 ENSG00000101596 structural maintenance of chromosomes flexible hinge domain containing 1 SMCHD1 FSHD2, KIAA0650 Yes No Ensembl:ENSG00000101596, GeneCard:SMCHD1, HGNC:HGNC:29090, ModBase:A6NHR9, NCBI Gene:23347, RefSeq DNA:NT_010859, RefSeq Protein:NP_056110, RefSeq RNA:NM_015295, UniProtKB:A6NHR9 No chr18 2655886 2805015 2655887 2805017 +PA142672378 255798 HGNC:27407 ENSG00000214097 single-pass membrane protein with coiled-coil domains 1 SMCO1 C3orf43, DKFZp313B0440, FLJ41923 Yes No Ensembl:ENSG00000214097, GeneCard:C3orf43, HGNC:HGNC:27407, ModBase:Q147U7, NCBI Gene:255798, RefSeq DNA:NT_029928, RefSeq Protein:NP_001071125, RefSeq RNA:NM_001077657, UniProtKB:Q147U7 No chr3 196233750 196242237 196506877 196515366 +PA162378014 341346 HGNC:34448 ENSG00000165935 single-pass membrane protein with coiled-coil domains 2 SMCO2 C12orf70, LOC341346 Yes No Ensembl:ENSG00000165935, GeneCard:C12orf70, HGNC:HGNC:34448, NCBI Gene:341346, RefSeq DNA:NT_009714, RefSeq Protein:NP_001138482, RefSeq RNA:NM_001145010, UniProtKB:C9K0I7 No chr12 27619743 27655118 27446482 27506911 +PA162378005 440087 HGNC:34401 ENSG00000179256 single-pass membrane protein with coiled-coil domains 3 SMCO3 C12orf69, LOC440087 Yes No Ensembl:ENSG00000179256, GeneCard:C12orf69, HGNC:HGNC:34401, ModBase:A2RU48, NCBI Gene:440087, RefSeq DNA:NT_009714, RefSeq Protein:NP_001013720, RefSeq RNA:NM_001013698, UniProtKB:A2RU48 No chr12 14957584 14967116 14804650 14816761 +PA144596494 56935 HGNC:24810 ENSG00000166002 single-pass membrane protein with coiled-coil domains 4 SMCO4 C11orf75, FN5 Yes No Ensembl:ENSG00000166002, GeneCard:C11orf75, HGNC:HGNC:24810, HumanCyc Gene:HS09318, NCBI Gene:56935, OMIM:609477, RefSeq DNA:NT_167190, RefSeq Protein:NP_064564, RefSeq RNA:NM_020179, UniProtKB:Q9NRQ5 No chr11 93211638 93276546 93478472 93586856 +PA30710 4184 HGNC:6962 ENSG00000163206 sperm mitochondria associated cysteine rich protein SMCP sperm mitochondria-associated cysteine-rich protein MCSP Yes No Ensembl:ENSG00000163206, GenAtlas:SMCP, GeneCard:SMCP, HGNC:HGNC:6962, HumanCyc Gene:HS08801, ModBase:P49901, NCBI Gene:4184, OMIM:601148, RefSeq DNA:NT_004487, RefSeq Protein:NP_109588, RefSeq RNA:NM_030663, UCSC Genome Browser:NM_030663, UniProtKB:P49901, UniProtKB:Q5T7P5 No chr1 152850798 152857523 152878322 152885047 +PA38259 105371564 HGNC:17914 ENSG00000223979 Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding) SMCR2 Yes No Ensembl:ENSG00000223979, GenAtlas:SMCR2, GeneCard:SMCR2, HGNC:HGNC:17914, NCBI Gene:105371564 No chr17 +PA38263 140771 HGNC:17918 ENSG00000226746 Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding) SMCR5 non-protein coding RNA 34 NCRNA00034 Yes No Ensembl:ENSG00000226746, GenAtlas:SMCR5, GeneCard:SMCR5, HGNC:HGNC:17918, NCBI Gene:140771, RefSeq DNA:NT_010718, RefSeq RNA:NR_024007, UCSC Genome Browser:NM_144774 No chr17 +PA38266 140775 HGNC:17921 ENSG00000176994 SMCR8-C9orf72 complex subunit SMCR8 Smith-Magenis syndrome chromosome region, candidate 8 DENND8A, FLJ34716 Yes No Ensembl:ENSG00000176994, GenAtlas:SMCR8, GeneCard:SMCR8, HGNC:HGNC:17921, HumanCyc Gene:HS16771, ModBase:Q8TEV9, NCBI Gene:140775, RefSeq DNA:NT_010718, RefSeq Protein:NP_658988, RefSeq RNA:NM_144775, UCSC Genome Browser:NM_144775, UniProtKB:Q8TEV9 No chr17 18218594 18231370 18315280 18328056 +PA166352128 HGNC:17913 Smith-Magenis syndrome chromosome region, candidate 9 SMCR9 Yes No HGNC:HGNC:17913 No 0 0 0 0 +PA145149451 91689 HGNC:25055 ENSG00000183172 single-pass membrane protein with aspartate rich tail 1 SMDT1 essential MCU regulator, single-pass membrane protein with aspartate-rich tail 1 C22orf32, DDDD, EMRE, dJ186O1.1 Yes Yes Ensembl:ENSG00000183172, GeneCard:C22orf32, HGNC:HGNC:25055, NCBI Gene:91689, RefSeq DNA:NT_011520, RefSeq Protein:NP_201575, RefSeq RNA:NM_033318, UniProtKB:Q9H4I9 No chr22 42475695 42480288 42079687 42084284 +PA164725852 23049 HGNC:30045 ENSG00000157106 SMG1 nonsense mediated mRNA decay associated PI3K related kinase SMG1 """SMG1 phosphatidylinositol 3-kinase-related kinase"", ""SMG1, nonsense mediated mRNA decay associated PI3K related kinase"", ""phosphatidylinositol 3-kinase-related kinase"", ""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)""" ATX, KIAA0421, LIP Yes No Ensembl:ENSG00000157106, GeneCard:SMG1, HGNC:HGNC:30045, HumanCyc Gene:HS08179, NCBI Gene:23049, OMIM:607032, RefSeq DNA:NT_010393, RefSeq Protein:NP_055907, RefSeq RNA:NM_015092, UniProtKB:Q96Q15 No chr16 18816175 18937748 18804853 18926417 +PA143485617 23381 HGNC:24644 ENSG00000198952 SMG5 nonsense mediated mRNA decay factor SMG5 """EST1 telomerase component homolog B (S. cerevisiae)"", ""SMG5 nonsense mediated mRNA decay factor"", ""SMG5, nonsense mediated mRNA decay factor"", ""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)""" EST1B, KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5 Yes No Comparative Toxicogenomics Database:23381, Ensembl:ENSG00000198952, GeneCard:SMG5, HGNC:HGNC:24644, ModBase:Q9UPR3, NCBI Gene:23381, OMIM:610962, RefSeq DNA:NT_004487, RefSeq Protein:NP_056142, RefSeq RNA:NM_015327, UniProtKB:Q9UPR3 No chr1 156219015 156252676 156249224 156291498 +PA25584 23293 HGNC:17809 ENSG00000070366 SMG6 nonsense mediated mRNA decay factor SMG6 """EST1 telomerase component homolog A (S. cerevisiae)"", ""SMG6 nonsense mediated mRNA decay factor"", ""SMG6, nonsense mediated mRNA decay factor"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)""" C17orf31, EST1A, KIAA0732, SMG-6 Yes No Ensembl:ENSG00000070366, GenAtlas:SMG6, GeneCard:SMG6, HGNC:HGNC:17809, ModBase:Q86US8, NCBI Gene:23293, OMIM:610963, RefSeq DNA:NT_010718, RefSeq Protein:NP_001164428, RefSeq Protein:NP_060045, RefSeq RNA:NM_001170957, RefSeq RNA:NM_017575, UCSC Genome Browser:NM_017575, UniProtKB:Q86US8 No chr17 1963133 2207069 2059839 2303836 +PA25589 53400 HGNC:1220 ENSG00000278941 SMG6 intronic transcript 1 (non-protein coding) SMG6-IT1 Yes No Ensembl:ENSG00000278941, GenAtlas:C17orf6, GeneCard:C17orf6, HGNC:HGNC:1220, NCBI Gene:53400 No chr17 +PA25605 9887 HGNC:16792 ENSG00000116698 SMG7 nonsense mediated mRNA decay factor SMG7 """EST1 telomerase component homolog C (S. cerevisiae)"", ""SMG7 nonsense mediated mRNA decay factor"", ""SMG7, nonsense mediated mRNA decay factor"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)""" C1orf16, EST1C, KIAA0250, SGA56M, SMG-7 Yes No Ensembl:ENSG00000116698, GenAtlas:SMG7, GeneCard:SMG7, HGNC:HGNC:16792, HumanCyc Gene:HS12877, ModBase:Q92540, NCBI Gene:9887, OMIM:610964, RefSeq DNA:NT_004487, RefSeq Protein:NP_001167532, RefSeq Protein:NP_775179, RefSeq Protein:NP_963862, RefSeq Protein:NP_963863, RefSeq RNA:NM_001174061, RefSeq RNA:NM_173156, RefSeq RNA:NM_201568, RefSeq RNA:NM_201569, UCSC Genome Browser:NM_014837, UniProtKB:B4DRB2, UniProtKB:Q6TV06, UniProtKB:Q92540 No chr1 183441506 183523328 183471962 183554193 +PA142672219 55181 HGNC:25551 ENSG00000167447 SMG8 nonsense mediated mRNA decay factor SMG8 """SMG8 nonsense mediated mRNA decay factor"", ""SMG8, nonsense mediated mRNA decay factor"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)""" C17orf71, FLJ10587, FLJ23205 Yes No Ensembl:ENSG00000167447, GeneCard:C17orf71, HGNC:HGNC:25551, HumanCyc Gene:HS15551, ModBase:Q8ND04, NCBI Gene:55181, OMIM:613175, RefSeq DNA:NT_010783, RefSeq Protein:NP_060619, RefSeq RNA:NM_018149, UniProtKB:Q8ND04 No chr17 57287371 57292611 59210010 59215250 +PA162378734 56006 HGNC:25763 ENSG00000105771 SMG9 nonsense mediated mRNA decay factor SMG9 """SMG9 nonsense mediated mRNA decay factor"", ""SMG9, nonsense mediated mRNA decay factor"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)""" C19orf61, FLJ12886 Yes No Ensembl:ENSG00000105771, GeneCard:C19orf61, HGNC:HGNC:25763, HumanCyc Gene:HS12606, ModBase:Q9H0W8, NCBI Gene:56006, OMIM:613176, RefSeq DNA:NT_011109, RefSeq Protein:NP_061981, RefSeq RNA:NM_019108, UniProtKB:Q9H0W8 No chr19 44232851 44259142 43727992 43754990 +PA166049116 388588 HGNC:44204 ENSG00000235169 small integral membrane protein 1 (Vel blood group) SMIM1 small integral membrane protein 1 Vel Yes No Ensembl:ENSG00000235169, HGNC:HGNC:44204, NCBI Gene:388588 No chr1 3689352 3692546 3772761 3775982 +PA166049079 644538 HGNC:41913 ENSG00000184785 small integral membrane protein 10 SMIM10 CXorf69 Yes No Ensembl:ENSG00000184785, HGNC:HGNC:41913, NCBI Gene:644538 No chrX 134124968 134126503 134990938 134992473 +PA166181639 100129361 HGNC:49847 ENSG00000256537 small integral membrane protein 10 like 1 SMIM10L1 Yes No Ensembl:ENSG00000256537, HGNC:HGNC:49847, NCBI Gene:100129361 No 0 0 0 0 +PA164723613 399668 HGNC:34499 ENSG00000178947 small integral membrane protein 10 like 2A SMIM10L2A lncRNA activator of enhancer domains, long intergenic non-protein coding RNA 86 LED, LINC00086, LINC0086, MGC39606, NCRNA00086 Yes No Ensembl:ENSG00000178947, GeneCard:NCRNA00086, HGNC:HGNC:34499, NCBI Gene:399668, RefSeq DNA:NT_011786, RefSeq RNA:NR_024359 No chrX 134555868 134560225 135421933 135428074 +PA164723622 644596 HGNC:34500 ENSG00000196972 small integral membrane protein 10 like 2B SMIM10L2B long intergenic non-protein coding RNA 87 LINC00087, NCRNA00087, RP11-85L21.2 Yes No Ensembl:ENSG00000196972, GeneCard:LINC00087, HGNC:HGNC:34500, NCBI Gene:644596, RefSeq DNA:NT_011786, RefSeq RNA:NR_024493 No chrX 134229015 134232733 135094985 135098634 +PA166352129 122526779 HGNC:56768 small integral membrane protein 10 like 3 SMIM10L3 salivary gland specific protein 1 SAGSIN1 Yes No HGNC:HGNC:56768, NCBI Gene:122526779 No 0 0 0 0 +PA166352130 54065 HGNC:1293 small integral membrane protein 11 SMIM11 C21orf51, FAM165B, SMIM11A Yes No HGNC:HGNC:1293, NCBI Gene:54065 No 0 0 0 0 +PA166352131 HGNC:51846 small integral membrane protein 11B SMIM11B Yes No HGNC:HGNC:51846 No 0 0 0 0 +PA162387007 100127905 HGNC:21400 ENSG00000198738 small integral membrane protein 11 pseudogene 1 SMIM11P1 bA33E24.4 Yes No Ensembl:ENSG00000198738, GeneCard:FAM165A, HGNC:HGNC:21400, NCBI Gene:100127905 No chr6 86444927 86445786 85735209 85736068 +PA162378876 113444 HGNC:25154 ENSG00000163866 small integral membrane protein 12 SMIM12 C1orf212, FLJ90372 Yes No Ensembl:ENSG00000163866, GeneCard:C1orf212, HGNC:HGNC:25154, NCBI Gene:113444, RefSeq DNA:NT_032977, RefSeq Protein:NP_001158296, RefSeq Protein:NP_001158297, RefSeq Protein:NP_612437, RefSeq RNA:NM_001164824, RefSeq RNA:NM_001164825, RefSeq RNA:NM_138428 No chr1 35315963 35325417 34850362 34859820 +PA166048980 221710 HGNC:27356 ENSG00000224531 small integral membrane protein 13 SMIM13 C6orf228 Yes No Ensembl:ENSG00000224531, HGNC:HGNC:27356, NCBI Gene:221710 No chr6 11094266 11138971 11094033 11138738 +PA162379760 201895 HGNC:27321 ENSG00000163683 small integral membrane protein 14 SMIM14 C4orf34, FLJ13289 Yes No Ensembl:ENSG00000163683, GeneCard:C4orf34, HGNC:HGNC:27321, NCBI Gene:201895, RefSeq DNA:NT_016297, RefSeq Protein:NP_777581, RefSeq RNA:NM_174921, UniProtKB:Q96QK8 No chr4 39548917 39640481 39547297 39638998 +PA162380269 643155 HGNC:33861 ENSG00000188725 small integral membrane protein 15 SMIM15 C5orf43, DKFZP686E2158 Yes No Ensembl:ENSG00000188725, GeneCard:C5orf43, HGNC:HGNC:33861, NCBI Gene:643155, RefSeq DNA:NT_006713, RefSeq Protein:NP_001041714, RefSeq RNA:NM_001048249, UniProtKB:Q7Z3B0 No chr5 60453536 60458302 61157709 61162475 +PA166048978 147670 HGNC:27114 ENSG00000268182 small integral membrane protein 17 SMIM17 Yes No Ensembl:ENSG00000268182, HGNC:HGNC:27114, NCBI Gene:147670 No chr19 57154527 57168614 56639251 56657247 +PA166049095 100507341 HGNC:42973 ENSG00000253457 small integral membrane protein 18 SMIM18 Yes No Ensembl:ENSG00000253457, HGNC:HGNC:42973, NCBI Gene:100507341 No chr8 30496117 30503473 30637771 30645956 +PA142672359 114926 HGNC:25166 ENSG00000176209 small integral membrane protein 19 SMIM19 C8orf40 Yes No Ensembl:ENSG00000176209, GeneCard:C8orf40, HGNC:HGNC:25166, HumanCyc Gene:HS16610, NCBI Gene:114926, RefSeq DNA:NT_167187, RefSeq Protein:NP_001129146, RefSeq Protein:NP_001129147, RefSeq Protein:NP_001129148, RefSeq Protein:NP_612445, RefSeq RNA:NM_001135674, RefSeq RNA:NM_001135675, RefSeq RNA:NM_001135676, RefSeq RNA:NM_138436, UniProtKB:Q96E16 No chr8 42396298 42408140 42541155 42552997 +PA166048985 79024 HGNC:28776 ENSG00000139656 small integral membrane protein 2 SMIM2 C13orf44, MGC5590 Yes No Ensembl:ENSG00000139656, HGNC:HGNC:28776, NCBI Gene:79024 No chr13 44717287 44735393 44143151 44161257 +PA165663312 389203 HGNC:37260 ENSG00000250317 small integral membrane protein 20 SMIM20 phoenixin C4orf52, MITRAC7, PNX Yes No Ensembl:ENSG00000250317, GeneCard:C4orf52, HGNC:HGNC:37260, NCBI Gene:389203, RefSeq DNA:NT_006316, RefSeq Protein:NP_001138904, RefSeq RNA:NM_001145432, UniProtKB:Q8N5G0 No chr4 25915528 25931501 25914192 25929879 +PA162378613 284274 HGNC:27598 ENSG00000206026 small integral membrane protein 21 SMIM21 C18orf62 Yes No Ensembl:ENSG00000206026, GeneCard:C18orf62, HGNC:HGNC:27598, NCBI Gene:284274, RefSeq DNA:NT_025028, RefSeq Protein:NP_001032408, RefSeq RNA:NM_001037331, UniProtKB:Q3B7S5 No chr18 73121827 73139589 75409476 75455653 +PA166123737 440335 HGNC:48329 ENSG00000267795 small integral membrane protein 22 SMIM22 cancer associated small integral membrane open reading frame 1 CASIMO1 Yes No Ensembl:ENSG00000267795, HGNC:HGNC:48329, NCBI Gene:440335 No chr16 +PA162380358 644994 HGNC:34440 ENSG00000185662 small integral membrane protein 23 SMIM23 chromosome 5 open reading frame 50 C5orf50, LOC644994 Yes No Ensembl:ENSG00000185662, GeneCard:C5orf50, HGNC:HGNC:34440, NCBI Gene:644994, RefSeq DNA:NT_023133, RefSeq Protein:XP_001715976, RefSeq Protein:XP_933155, RefSeq Protein:XP_946127, RefSeq RNA:XM_001715924, RefSeq RNA:XM_928062, RefSeq RNA:XM_941034 No chr5 171212819 171218129 171772637 171791136 +PA165393200 284422 HGNC:37244 ENSG00000095932 small integral membrane protein 24 SMIM24 chromosome 19 open reading frame 77 C19orf77, HSPC323 Yes No Ensembl:ENSG00000095932, GeneCard:C19orf77, HGNC:HGNC:37244, NCBI Gene:284422, RefSeq DNA:NT_011255, RefSeq Protein:NP_001129975, RefSeq RNA:NM_001136503, UniProtKB:O75264 No chr19 3474405 3480540 3474407 3480542 +PA166181641 388789 HGNC:43430 ENSG00000232388 small integral membrane protein 26 SMIM26 LINC00493, LOC388789 Yes No Ensembl:ENSG00000232388, HGNC:HGNC:43430, NCBI Gene:388789 No 0 0 0 0 +PA142672308 100129250 HGNC:31420 ENSG00000235453 small integral membrane protein 27 SMIM27 TOPORS antisense RNA 1 C9orf133, TOPORS-AS1 Yes No Ensembl:ENSG00000235453, GeneCard:C9orf133, HGNC:HGNC:31420, NCBI Gene:100129250, RefSeq Protein:XP_003403493, RefSeq RNA:XM_003403445 No chr9 32551142 32566858 32551144 32566860 +PA166181642 110806279 HGNC:53434 ENSG00000262543 small integral membrane protein 28 SMIM28 Yes No Ensembl:ENSG00000262543, HGNC:HGNC:53434, NCBI Gene:110806279 No 0 0 0 0 +PA25922 221491 HGNC:1340 ENSG00000186577 small integral membrane protein 29 SMIM29 chromosome 6 open reading frame 1 C6orf1, LBH, MGC57858 Yes No Ensembl:ENSG00000186577, GenAtlas:C6orf1, GeneCard:C6orf1, HGNC:HGNC:1340, NCBI Gene:221491, OMIM:611419, RefSeq DNA:NT_007592, RefSeq Protein:NP_001008703, RefSeq Protein:NP_001008704, RefSeq Protein:NP_848603, RefSeq RNA:NM_001008703, RefSeq RNA:NM_001008704, RefSeq RNA:NM_178508, UniProtKB:Q86T20 No chr6 34214157 34216904 34246380 34249108 +PA165660222 85027 HGNC:30248 ENSG00000256235 small integral membrane protein 3 SMIM3 C5orf62, MSTP150, NID67 Yes No Ensembl:ENSG00000256235, GeneCard:C5orf62, HGNC:HGNC:30248, HumanCyc Gene:HS17666, NCBI Gene:85027, OMIM:608324, RefSeq DNA:NT_029289, RefSeq Protein:NP_116565, RefSeq RNA:NM_032947, UniProtKB:Q9BZL3 No chr5 150157508 150176298 150777946 150796736 +PA166181643 401397 HGNC:48953 ENSG00000214194 small integral membrane protein 30 SMIM30 microprotein in antiviral immunity 1 LINC00998, MAVI1 Yes No Ensembl:ENSG00000214194, HGNC:HGNC:48953, NCBI Gene:401397 No 0 0 0 0 +PA166181644 100505989 HGNC:49638 ENSG00000248771 small integral membrane protein 31 SMIM31 human epithelial cell program regulator LINC01207, h.EPR Yes No Ensembl:ENSG00000248771, HGNC:HGNC:49638, NCBI Gene:100505989 No 0 0 0 0 +PA166181645 389332 HGNC:53640 ENSG00000271824 small integral membrane protein 32 SMIM32 Yes No Ensembl:ENSG00000271824, HGNC:HGNC:53640, NCBI Gene:389332 No 0 0 0 0 +PA166181646 111064649 HGNC:53645 ENSG00000283288 small integral membrane protein 33 SMIM33 Yes No Ensembl:ENSG00000283288, HGNC:HGNC:53645, NCBI Gene:111064649 No 0 0 0 0 +PA166352132 388820 HGNC:39601 small integral membrane protein 34 SMIM34 SMIM34A Yes No HGNC:HGNC:39601, NCBI Gene:388820 No 0 0 0 0 +PA166352133 HGNC:53650 small integral membrane protein 34B SMIM34B Yes No HGNC:HGNC:53650 No 0 0 0 0 +PA166181649 100526771 HGNC:44179 ENSG00000255274 small integral membrane protein 35 SMIM35 TMPRSS4-AS1 Yes No Ensembl:ENSG00000255274, HGNC:HGNC:44179, NCBI Gene:100526771 No 0 0 0 0 +PA166181650 101927367, 111064648 HGNC:53654 ENSG00000261873 small integral membrane protein 36 SMIM36 Yes No Ensembl:ENSG00000261873, HGNC:HGNC:53654, NCBI Gene:101927367, NCBI Gene:111064648 No 0 0 0 0 +PA166181651 107984345, 113523637 HGNC:54074 ENSG00000284713 small integral membrane protein 38 SMIM38 Yes No Ensembl:ENSG00000284713, HGNC:HGNC:54074, NCBI Gene:107984345, NCBI Gene:113523637 No 0 0 0 0 +PA166181652 113523639 HGNC:54076 ENSG00000284479 small integral membrane protein 39 SMIM39 Yes No Ensembl:ENSG00000284479, HGNC:HGNC:54076, NCBI Gene:113523639 No 0 0 0 0 +PA166181653 113523636 HGNC:54073 ENSG00000286920 small integral membrane protein 40 SMIM40 Yes No Ensembl:ENSG00000286920, HGNC:HGNC:54073, NCBI Gene:113523636 No 0 0 0 0 +PA166181654 113523638 HGNC:54075 ENSG00000284791 small integral membrane protein 41 SMIM41 Yes No Ensembl:ENSG00000284791, HGNC:HGNC:54075, NCBI Gene:113523638 No 0 0 0 0 +PA166352134 117981789 HGNC:55000 small integral membrane protein 42 SMIM42 Yes No HGNC:HGNC:55000, NCBI Gene:117981789 No 0 0 0 0 +PA166352135 132332 HGNC:55077 small integral membrane protein 43 SMIM43 Nodal Enhanced MEsendoderm Peptide NEMEP Yes No HGNC:HGNC:55077, NCBI Gene:132332 No 0 0 0 0 +PA166352136 122405565 HGNC:55815 small integral membrane protein 44 SMIM44 Yes No HGNC:HGNC:55815, NCBI Gene:122405565 No 0 0 0 0 +PA166352137 339674 HGNC:27930 small integral membrane protein 45 SMIM45 LINC00634 Yes Yes HGNC:HGNC:27930, NCBI Gene:339674 No 0 0 0 0 +PA166352138 127138866 HGNC:56307 small integral membrane protein 46 SMIM46 Yes No HGNC:HGNC:56307, NCBI Gene:127138866 No 0 0 0 0 +PA166352139 105372440 HGNC:53452 small integral membrane protein 47 SMIM47 Yes No HGNC:HGNC:53452, NCBI Gene:105372440 No 0 0 0 0 +PA166049052 643008 HGNC:40030 ENSG00000204323 small integral membrane protein 5 SMIM5 C17orf109 Yes No Ensembl:ENSG00000204323, HGNC:HGNC:40030, NCBI Gene:643008 No chr17 73629514 73637486 75633434 75641406 +PA166049054 100130933 HGNC:40032 ENSG00000259120 small integral membrane protein 6 SMIM6 endoregulin C17orf110, ELN Yes No Ensembl:ENSG00000259120, HGNC:HGNC:40032, NCBI Gene:100130933 No chr17 73642274 73644057 75644805 75647977 +PA144596475 79086 HGNC:28419 ENSG00000214046 small integral membrane protein 7 SMIM7 C19orf42, MGC2747 Yes No Ensembl:ENSG00000214046, GeneCard:C19orf42, HGNC:HGNC:28419, NCBI Gene:79086, RefSeq DNA:NT_011295, RefSeq Protein:NP_077009, RefSeq RNA:NM_024104, UniProtKB:Q9BQ49 No chr19 16741562 16770968 16630741 16660177 +PA134961667 57150 HGNC:21401 ENSG00000111850 small integral membrane protein 8 SMIM8 C6orf162, DKFZP586E1923, dJ102H19.2 Yes No Ensembl:ENSG00000111850, GeneCard:C6orf162, HGNC:HGNC:21401, HumanCyc Gene:HS12754, NCBI Gene:57150, RefSeq DNA:NT_007299, RefSeq Protein:NP_001035958, RefSeq Protein:NP_065158, RefSeq RNA:NM_001042493, RefSeq RNA:NM_020425, UniProtKB:Q96KF7 No chr6 88032306 88052043 87322588 87342328 +PA166049081 100132963 HGNC:41915 ENSG00000203870 small integral membrane protein 9 SMIM9 CXorf68 Yes No Ensembl:ENSG00000203870, HGNC:HGNC:41915, NCBI Gene:100132963 No chrX 154051623 154062937 154823348 154834662 +PA166049099 100287482 HGNC:43561 ENSG00000240204 small lysine rich protein 1 SMKR1 small lysine-rich protein 1 Yes No Ensembl:ENSG00000240204, HGNC:HGNC:43561, NCBI Gene:100287482 No chr7 129142320 129152773 129502479 129512932 +PA166049154 100507203 HGNC:44670 ENSG00000256162 small leucine rich protein 1 SMLR1 small leucine-rich protein 1 Yes No Ensembl:ENSG00000256162, HGNC:HGNC:44670, NCBI Gene:100507203 No chr6 131148545 131158275 130827405 130837135 +PA35966 6606 HGNC:11117 ENSG00000172062, ENSG00000205571 survival of motor neuron 1, telomeric SMN1 gemin-1, tudor domain containing 16A BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA@, SMNT, TDRD16A Yes No Comparative Toxicogenomics Database:6606, Ensembl:ENSG00000172062, Ensembl:ENSG00000205571, GenAtlas:SMN1, GeneCard:SMN1, HGNC:HGNC:11117, HumanCyc Gene:HS10445, NCBI Gene:6606, OMIM:253300, OMIM:253400, OMIM:253550, OMIM:271150, OMIM:600354, RefSeq DNA:NG_008691, RefSeq DNA:NT_006713, RefSeq Protein:NP_000335, RefSeq Protein:NP_075012, RefSeq RNA:NM_000344, RefSeq RNA:NM_022874, UCSC Genome Browser:NM_000344 No chr5 70220768 70248839 70924941 70953015 +PA35967 6607 HGNC:11118 ENSG00000172062, ENSG00000205571 survival of motor neuron 2, centromeric SMN2 tudor domain containing 16B BCD541, GEMIN1, SMNC, TDRD16B Yes No Comparative Toxicogenomics Database:6607, Ensembl:ENSG00000172062, Ensembl:ENSG00000205571, GenAtlas:SMN2, GeneCard:SMN2, HGNC:HGNC:11118, HumanCyc Gene:HS11334, NCBI Gene:6607, OMIM:253400, OMIM:601627, RefSeq DNA:NG_008728, RefSeq DNA:NT_006713, RefSeq Protein:NP_059107, RefSeq Protein:NP_075013, RefSeq Protein:NP_075014, RefSeq Protein:NP_075015, RefSeq RNA:NM_017411, RefSeq RNA:NM_022875, RefSeq RNA:NM_022876, RefSeq RNA:NM_022877, UCSC Genome Browser:NM_017411, UniProtKB:Q16637 No chr5 69345350 69373422 70049523 70077595 +PA134990780 10285 HGNC:16900 ENSG00000119953 survival motor neuron domain containing 1 SMNDC1 """splicing factor 30, survival of motor neuron-related"", ""tudor domain containing 16C""" SMNR, SPF30, TDRD16C Yes No Comparative Toxicogenomics Database:10285, Ensembl:ENSG00000119953, GeneCard:SMNDC1, HGNC:HGNC:16900, HumanCyc Gene:HS04355, ModBase:O75940, NCBI Gene:10285, OMIM:603519, RefSeq DNA:NG_008284, RefSeq DNA:NT_030059, RefSeq Protein:NP_005862, RefSeq RNA:NM_005871, UniProtKB:O75940 No chr10 112052798 112064707 110293040 110304969 +PA35968 6608 HGNC:11119 ENSG00000128602 smoothened, frizzled class receptor SMO """frizzled family member 11"", ""smoothened, frizzled family receptor""" FZD11, SMOH Yes No Comparative Toxicogenomics Database:6608, Ensembl:ENSG00000128602, GeneCard:SMO, HGNC:HGNC:11119, HumanCyc Gene:HS05202, IUPHAR Receptor:239, ModBase:Q99835, NCBI Gene:6608, OMIM:601500, RefSeq DNA:NG_023340, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_005622, RefSeq RNA:NM_005631, UCSC Genome Browser:NM_005631, UniProtKB:A4D1K5, UniProtKB:Q99835 No chr7 128828713 128853386 129188872 129213548 +PA134942329 64093 HGNC:20318 ENSG00000198732 SPARC related modular calcium binding 1 SMOC1 Yes No Comparative Toxicogenomics Database:64093, Ensembl:ENSG00000198732, GeneCard:SMOC1, HGNC:HGNC:20318, ModBase:Q9H4F8, NCBI Gene:64093, OMIM:608488, RefSeq DNA:NT_026437, RefSeq Protein:NP_001030024, RefSeq Protein:NP_071420, RefSeq RNA:NM_001034852, RefSeq RNA:NM_022137, UniProtKB:Q9H4F8 No chr14 70346105 70499083 69879388 70032366 +PA134934590 64094 HGNC:20323 ENSG00000112562 SPARC related modular calcium binding 2 SMOC2 SMAP2 Yes No Comparative Toxicogenomics Database:64094, Ensembl:ENSG00000112562, GeneCard:SMOC2, HGNC:HGNC:20323, HumanCyc Gene:HS03589, ModBase:Q9H3U0, NCBI Gene:64094, OMIM:607223, RefSeq DNA:NT_025741, RefSeq Protein:NP_001159884, RefSeq Protein:NP_071421, RefSeq RNA:NM_001166412, RefSeq RNA:NM_022138, UniProtKB:Q9H3U7 No chr6 168841831 169068674 168441151 168667994 +PA25701 54498 HGNC:15862 ENSG00000088826 spermine oxidase SMOX C20orf16, FLJ20746, MGC1010, PAO, PAOh1, SMO, dJ779E11.1 Yes No Comparative Toxicogenomics Database:54498, Ensembl:ENSG00000088826, GenAtlas:SMOX, GeneCard:SMOX, HGNC:HGNC:15862, HumanCyc Gene:HS01609, ModBase:Q9BW38, NCBI Gene:54498, RefSeq DNA:NT_011387, RefSeq Protein:NP_787033, RefSeq Protein:NP_787034, RefSeq Protein:NP_787035, RefSeq Protein:NP_787036, RefSeq RNA:NM_175839, RefSeq RNA:NM_175840, RefSeq RNA:NM_175841, RefSeq RNA:NM_175842, UCSC Genome Browser:NM_019025, UniProtKB:Q9NWM0 No chr20 4129426 4168394 4148779 4187747 +PA35969 6609 HGNC:11120 ENSG00000166311 sphingomyelin phosphodiesterase 1 SMPD1 """Niemann-Pick type A/B"", ""acid sphingomyelinase"", ""sphingomyelin phosphodiesterase 1, acid lysosomal""" ASM Yes No Comparative Toxicogenomics Database:6609, Ensembl:ENSG00000166311, GenAtlas:SMPD1, GeneCard:SMPD1, HGNC:HGNC:11120, HumanCyc Gene:HS09373, ModBase:P17405, NCBI Gene:6609, OMIM:257200, OMIM:607608, OMIM:607616, RefSeq DNA:NG_011780, RefSeq DNA:NT_009237, RefSeq Protein:NP_000534, RefSeq Protein:NP_001007594, RefSeq RNA:NM_000543, RefSeq RNA:NM_001007593, UCSC Genome Browser:NM_000543, UniProtKB:P17405, UniProtKB:Q8IUN0 No chr11 6411644 6416228 6390301 6394998 +PA35970 6610 HGNC:11121 ENSG00000135587 sphingomyelin phosphodiesterase 2 SMPD2 """neutral sphingomyelinase"", ""sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)""" ISC1, nSMase Yes No Comparative Toxicogenomics Database:6610, Ensembl:ENSG00000135587, GenAtlas:SMPD2, GeneCard:SMPD2, HGNC:HGNC:11121, HumanCyc Gene:HS06031, ModBase:O60906, NCBI Gene:6610, OMIM:603498, RefSeq DNA:NT_025741, RefSeq Protein:NP_003071, RefSeq RNA:NM_003080, UCSC Genome Browser:NM_003080, UniProtKB:O60906 No chr6 109761849 109765125 109440646 109443922 +PA37862 55512 HGNC:14240 ENSG00000103056 sphingomyelin phosphodiesterase 3 SMPD3 """neutral sphingomyelinase II"", ""sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)""" NSMASE2 Yes No Comparative Toxicogenomics Database:55512, Ensembl:ENSG00000103056, GenAtlas:SMPD3, GeneCard:SMPD3, HGNC:HGNC:14240, HumanCyc Gene:HS02449, ModBase:Q9NY59, NCBI Gene:55512, OMIM:605777, RefSeq DNA:NT_010498, RefSeq Protein:NP_061137, RefSeq RNA:NM_018667, UCSC Genome Browser:NM_018667, UniProtKB:A8K0T6, UniProtKB:Q9NY59 No chr16 68392230 68482409 68358327 68448703 +PA145148067 55627 HGNC:32949 ENSG00000136699 sphingomyelin phosphodiesterase 4 SMPD4 """neutral sphingomyelinase-3"", ""sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)""" FLJ20297, FLJ20756, KIAA1418, NET13, NSMASE3, nSMase-3 Yes No Ensembl:ENSG00000136699, GeneCard:SMPD4, HGNC:HGNC:32949, HumanCyc Gene:HS13634, NCBI Gene:55627, OMIM:610457, RefSeq DNA:NT_022135, RefSeq Protein:NP_001164554, RefSeq Protein:NP_060221, RefSeq Protein:NP_060421, RefSeq RNA:NM_001171083, RefSeq RNA:NM_017751, RefSeq RNA:NM_017951, RefSeq RNA:NR_033230, RefSeq RNA:NR_033231, RefSeq RNA:NR_033232, UniProtKB:B1PBA3, UniProtKB:B4DM23, UniProtKB:B4DRB8, UniProtKB:Q9NXE4 No chr2 130908965 130940323 130151392 130182750 +PA134932128 10924 HGNC:17389 ENSG00000172594 sphingomyelin phosphodiesterase acid like 3A SMPDL3A """acid sphingomyelinase-like phosphodiesterase 3a"", ""sphingomyelin phosphodiesterase, acid-like 3A""" ASM3A, ASML3a, FLJ20177, yR36GH4.1 Yes No Comparative Toxicogenomics Database:10924, Ensembl:ENSG00000172594, GeneCard:SMPDL3A, HGNC:HGNC:17389, ModBase:Q92484, NCBI Gene:10924, OMIM:610728, RefSeq DNA:NT_025741, RefSeq Protein:NP_006705, RefSeq RNA:NM_006714, UniProtKB:Q92484 No chr6 123109601 123130865 122787180 122809720 +PA134889099 27293 HGNC:21416 ENSG00000130768 sphingomyelin phosphodiesterase acid like 3B SMPDL3B sphingomyelin phosphodiesterase, acid-like 3B ASML3B Yes No Comparative Toxicogenomics Database:27293, Ensembl:ENSG00000130768, GeneCard:SMPDL3B, HGNC:HGNC:21416, HumanCyc Gene:HS05440, ModBase:Q92485, NCBI Gene:27293, RefSeq DNA:NT_004610, RefSeq Protein:NP_001009568, RefSeq Protein:NP_055289, RefSeq RNA:NM_001009568, RefSeq RNA:NM_014474, UniProtKB:Q92485 No chr1 28261456 28285663 27934955 27959157 +PA35971 23676 HGNC:11122 ENSG00000091482 small muscle protein X-linked SMPX small muscle protein, X-linked Chisel, Csl, DFN6, DFNX4 Yes No Ensembl:ENSG00000091482, GenAtlas:SMPX, GeneCard:SMPX, HGNC:HGNC:11122, HumanCyc Gene:HS01734, NCBI Gene:23676, OMIM:300226, RefSeq DNA:NT_167197, RefSeq Protein:NP_055147, RefSeq RNA:NM_014332, UCSC Genome Browser:NM_014332, UniProtKB:Q9UHP9 No chrX 21724090 21776278 21705972 21758160 +PA38824 26952 HGNC:19216 ENSG00000109208 submaxillary gland androgen regulated protein 3A SMR3A PBI, PRL5, PROL5 Yes No Ensembl:ENSG00000109208, GenAtlas:SMR3A, GeneCard:SMR3A, HGNC:HGNC:19216, HumanCyc Gene:HS03211, NCBI Gene:26952, RefSeq DNA:NT_022778, RefSeq Protein:NP_036522, RefSeq RNA:NM_012390, UCSC Genome Browser:NM_012390, UniProtKB:Q99954 No chr4 71226493 71232823 70360776 70367158 +PA33805 10879 HGNC:17326 ENSG00000171201 submaxillary gland androgen regulated protein 3B SMR3B P-B, PRL3, PROL3 Yes No Ensembl:ENSG00000171201, GenAtlas:SMR3B, GeneCard:SMR3B, HGNC:HGNC:17326, HumanCyc Gene:HS10264, ModBase:P02814, NCBI Gene:10879, OMIM:611593, RefSeq DNA:NT_022778, RefSeq Protein:NP_006676, RefSeq RNA:NM_006685, UCSC Genome Browser:NM_006685, UniProtKB:P02814, UniProtKB:Q504X8 No chr4 71248795 71255961 70383078 70390244 +PA35972 6611 HGNC:11123 ENSG00000102172 spermine synthase SMS MRSR, SPMSY, SRS, SpS Yes No Comparative Toxicogenomics Database:6611, Ensembl:ENSG00000102172, GenAtlas:SMS, GeneCard:SMS, HGNC:HGNC:11123, HumanCyc Gene:HS02362, ModBase:P52788, NCBI Gene:6611, OMIM:300105, OMIM:309583, RefSeq DNA:NG_009228, RefSeq DNA:NT_167197, RefSeq Protein:NP_004586, RefSeq RNA:NM_004595, UCSC Genome Browser:NM_004595, UniProtKB:P52788 No chrX 21958691 22025798 21940573 21994837 +PA35975 6525 HGNC:11126 ENSG00000183963 smoothelin SMTN Yes No Comparative Toxicogenomics Database:6525, Ensembl:ENSG00000183963, GenAtlas:SMTN, GeneCard:SMTN, HGNC:HGNC:11126, NCBI Gene:6525, OMIM:602127, RefSeq DNA:NT_011520, RefSeq Protein:NP_001193946, RefSeq Protein:NP_001193947, RefSeq Protein:NP_008863, RefSeq Protein:NP_599031, RefSeq Protein:NP_599032, RefSeq RNA:NM_001207017, RefSeq RNA:NM_001207018, RefSeq RNA:NM_006932, RefSeq RNA:NM_134269, RefSeq RNA:NM_134270, UCSC Genome Browser:NM_006932, UniProtKB:P53814 No chr22 31477282 31500610 31081296 31104624 +PA143485618 219537 HGNC:32394 ENSG00000214872 smoothelin like 1 SMTNL1 calponin homology-associated smooth muscle protein, smoothelin-like 1 CHASM Yes No Ensembl:ENSG00000214872, GeneCard:SMTNL1, HGNC:HGNC:32394, NCBI Gene:219537, RefSeq DNA:NT_167190, RefSeq Protein:NP_001099035, RefSeq RNA:NM_001105565, UniProtKB:C9J621 No chr11 57305044 57317747 57536841 57550274 +PA145007828 342527 HGNC:24764 ENSG00000188176 smoothelin like 2 SMTNL2 smoothelin-like 2 FLJ42461 Yes No Ensembl:ENSG00000188176, GeneCard:SMTNL2, HGNC:HGNC:24764, ModBase:Q2TAL5, NCBI Gene:342527, RefSeq DNA:NT_010718, RefSeq Protein:NP_001108446, RefSeq Protein:NP_940903, RefSeq RNA:NM_001114974, RefSeq RNA:NM_198501, UniProtKB:Q2TAL5 No chr17 4487276 4511614 4583981 4608319 +PA134903890 55234 HGNC:18247 ENSG00000122692 SMU1 DNA replication regulator and spliceosomal factor SMU1 """SMU1, DNA replication regulator and spliceosomal factor"", ""functional spliceosome-associated protein 57"", ""smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)""" BWD, FLJ10805, SMU-1, fSAP57 Yes No Comparative Toxicogenomics Database:55234, Ensembl:ENSG00000122692, GeneCard:SMU1, HGNC:HGNC:18247, HumanCyc Gene:HS13066, ModBase:Q2TAY7, NCBI Gene:55234, RefSeq DNA:NT_008413, RefSeq Protein:NP_060695, RefSeq RNA:NM_018225, UniProtKB:A0MNN4, UniProtKB:Q2TAY7 No chr9 33041850 33076714 33041852 33076716 +PA142670895 23583 HGNC:17148 ENSG00000123415 single-strand-selective monofunctional uracil-DNA glycosylase 1 SMUG1 FDG, HMUDG, UNG3 Yes No Ensembl:ENSG00000123415, GeneCard:SMUG1, HGNC:HGNC:17148, HumanCyc Gene:HS04659, ModBase:Q53HV7, NCBI Gene:23583, OMIM:607753, RefSeq DNA:NT_029419, RefSeq Protein:NP_055126, RefSeq RNA:NM_014311, UniProtKB:Q53HV7 No chr12 54574142 54582778 54171815 54188994 +PA134987175 57154 HGNC:16807 ENSG00000198742 SMAD specific E3 ubiquitin protein ligase 1 SMURF1 KIAA1625 Yes No Comparative Toxicogenomics Database:57154, Ensembl:ENSG00000198742, GeneCard:SMURF1, HGNC:HGNC:16807, ModBase:Q9HCE7, NCBI Gene:57154, OMIM:605568, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001186776, RefSeq Protein:NP_065162, RefSeq Protein:NP_851994, RefSeq RNA:NM_001199847, RefSeq RNA:NM_020429, RefSeq RNA:NM_181349, UniProtKB:Q547Q3, UniProtKB:Q9HCE7 No chr7 98625058 98741743 99027435 99144120 +PA134985524 64750 HGNC:16809 ENSG00000108854 SMAD specific E3 ubiquitin protein ligase 2 SMURF2 Yes No Comparative Toxicogenomics Database:64750, Ensembl:ENSG00000108854, GeneCard:SMURF2, HGNC:HGNC:16809, HumanCyc Gene:HS03173, ModBase:Q9HAU4, NCBI Gene:64750, OMIM:605532, RefSeq DNA:NT_010783, RefSeq Protein:NP_073576, RefSeq RNA:NM_022739, UniProtKB:Q96DE7, UniProtKB:Q9HAU4 No chr17 62538400 62658386 64542282 64662268 +PA134862943 150572 HGNC:20986 ENSG00000115593 SET and MYND domain containing 1 SMYD1 BOP, KMT3D, ZMYND22 Yes No Comparative Toxicogenomics Database:150572, Ensembl:ENSG00000115593, GeneCard:SMYD1, HGNC:HGNC:20986, ModBase:Q8NB12, NCBI Gene:150572, OMIM:606846, RefSeq DNA:NT_022184, RefSeq Protein:NP_938015, RefSeq RNA:NM_198274, UniProtKB:Q8NB12 No chr2 88367299 88412906 88067780 88113384 +PA134930268 56950 HGNC:20982 ENSG00000143499 SET and MYND domain containing 2 SMYD2 HSKM-B, KMT3C, ZMYND14 Yes No Comparative Toxicogenomics Database:56950, Ensembl:ENSG00000143499, GeneCard:SMYD2, HGNC:HGNC:20982, HumanCyc Gene:HS13971, ModBase:Q9NRG4, NCBI Gene:56950, OMIM:610663, RefSeq DNA:NT_167186, RefSeq Protein:NP_064582, RefSeq RNA:NM_020197, UniProtKB:Q9NRG4 No chr1 214454565 214510477 214281101 214337134 +PA37972 64754 HGNC:15513 ENSG00000185420 SET and MYND domain containing 3 SMYD3 KMT3E, ZMYND1, ZNFN3A1 Yes Yes Comparative Toxicogenomics Database:64754, Ensembl:ENSG00000185420, GeneCard:SMYD3, HGNC:HGNC:15513, HumanCyc Gene:HS11979, ModBase:Q9H7B4, NCBI Gene:64754, OMIM:608783, RefSeq DNA:NT_167186, RefSeq Protein:NP_001161212, RefSeq Protein:NP_073580, RefSeq RNA:NM_001167740, RefSeq RNA:NM_022743, UCSC Genome Browser:NM_022743, UniProtKB:Q9H7B4 No chr1 245912642 246670644 245749340 246507342 +PA134925431 114826 HGNC:21067 ENSG00000186532 SET and MYND domain containing 4 SMYD4 KIAA1936, ZMYND21 Yes No Comparative Toxicogenomics Database:114826, Ensembl:ENSG00000186532, GeneCard:SMYD4, HGNC:HGNC:21067, ModBase:Q8IYR2, NCBI Gene:114826, RefSeq DNA:NT_010718, RefSeq Protein:NP_443160, RefSeq RNA:NM_052928, UniProtKB:Q8IYR2 No chr17 1682829 1733175 1779535 1829896 +PA34190 10322 HGNC:16258 ENSG00000135632 SMYD family member 5 SMYD5 NN8-4AG, RAI15, RRG1, ZMYND23 Yes No Comparative Toxicogenomics Database:10322, Ensembl:ENSG00000135632, GeneCard:SMYD5, HGNC:HGNC:16258, HumanCyc Gene:HS06041, ModBase:Q6GMV2, NCBI Gene:10322, RefSeq DNA:NT_022184, RefSeq Protein:NP_006053, RefSeq RNA:NM_006062, UniProtKB:Q6GMV2 No chr2 73441366 73454355 73214238 73227227 +PA35977 6615 HGNC:11128 ENSG00000124216 snail family transcriptional repressor 1 SNAI1 snail family zinc finger 1, snail homolog 1 (Drosophila) SLUGH2, SNA, SNAH, SNAIL, SNAIL1 Yes No Comparative Toxicogenomics Database:6615, Ensembl:ENSG00000124216, GenAtlas:SNAI1, GeneCard:SNAI1, HGNC:HGNC:11128, HumanCyc Gene:HS04741, ModBase:O95863, NCBI Gene:6615, OMIM:604238, RefSeq DNA:NT_011362, RefSeq Protein:NP_005976, RefSeq RNA:NM_005985, UCSC Genome Browser:NM_005985, UniProtKB:O95863 No chr20 48599513 48605423 49982976 49988886 +PA35978 10415 HGNC:11129 ENSG00000237194 snail homolog 1 (Drosophila) pseudogene 1 SNAI1P1 SNAI1L Yes No Ensembl:ENSG00000237194, GenAtlas:SNAI1L1, GeneCard:SNAI1P1, HGNC:HGNC:11129, NCBI Gene:10415, RefSeq DNA:NG_000884, RefSeq DNA:NT_005403 No chr2 210673446 210675148 209808722 209810424 +PA35945 6591 HGNC:11094 ENSG00000019549 snail family transcriptional repressor 2 SNAI2 snail family zinc finger 2, snail homolog 2 (Drosophila) SLUG, SLUGH, SLUGH1, SNAIL2 Yes No Comparative Toxicogenomics Database:6591, Ensembl:ENSG00000019549, GenAtlas:SNAI2, GeneCard:SNAI2, HGNC:HGNC:11094, HumanCyc Gene:HS00397, ModBase:O43623, NCBI Gene:6591, OMIM:172800, OMIM:602150, OMIM:608890, RefSeq DNA:NG_012130, RefSeq DNA:NT_008183, RefSeq Protein:NP_003059, RefSeq RNA:NM_003068, UCSC Genome Browser:NM_003068, UniProtKB:O43623 No chr8 49830236 49833999 48917677 48921440 +PA134988226 333929 HGNC:18411 ENSG00000185669 snail family transcriptional repressor 3 SNAI3 snail family zinc finger 3, snail homolog 3 (Drosophila) SMUC, ZNF293, Zfp293 Yes No Comparative Toxicogenomics Database:333929, Ensembl:ENSG00000185669, GeneCard:SNAI3, HGNC:HGNC:18411, ModBase:Q3KNW1, NCBI Gene:333929, OMIM:612741, RefSeq DNA:NT_010542, RefSeq Protein:NP_840101, RefSeq RNA:NM_178310, UniProtKB:Q3KNW1 No chr16 88744090 88753192 88677682 88686474 +PA35979 8773 HGNC:11131 ENSG00000092531 synaptosome associated protein 23 SNAP23 synaptosomal-associated protein, 23kDa HsT17016, SNAP23A, SNAP23B Yes No Comparative Toxicogenomics Database:8773, Ensembl:ENSG00000092531, GenAtlas:SNAP23, GeneCard:SNAP23, HGNC:HGNC:11131, HumanCyc Gene:HS01774, ModBase:O00161, NCBI Gene:8773, OMIM:602534, RefSeq DNA:NT_010194, RefSeq Protein:NP_003816, RefSeq Protein:NP_570710, RefSeq RNA:NM_003825, RefSeq RNA:NM_130798, UCSC Genome Browser:NM_003825, UniProtKB:A8K287, UniProtKB:O00161 No chr15 42783442 42825259 42491244 42533061 +PA35980 6616 HGNC:11132 ENSG00000132639 synaptosome associated protein 25 SNAP25 """resistance to inhibitors of cholinesterase 4 homolog"", ""synaptosomal-associated protein, 25kDa""" RIC-4, RIC4, SEC9, SNAP, SNAP-25, bA416N4.2, dJ1068F16.2 Yes Yes Ensembl:ENSG00000132639, GenAtlas:SNAP25, GeneCard:SNAP25, HGNC:HGNC:11132, HumanCyc Gene:HS05665, ModBase:P60880, NCBI Gene:6616, OMIM:600322, RefSeq DNA:NT_011387, RefSeq Protein:NP_003072, RefSeq Protein:NP_570824, RefSeq RNA:NM_003081, RefSeq RNA:NM_130811, UCSC Genome Browser:NM_003081, UniProtKB:P60880 No chr20 10199477 10288068 10218694 10307420 +PA35981 9342 HGNC:11133 ENSG00000099940 synaptosome associated protein 29 SNAP29 """cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome"", ""soluble 29 kDa NSF attachment protein"", ""synaptosomal-associated protein, 29kDa""" CEDNIK, SNAP-29 Yes No Comparative Toxicogenomics Database:9342, Ensembl:ENSG00000099940, GenAtlas:SNAP29, GeneCard:SNAP29, HGNC:HGNC:11133, HumanCyc Gene:HS01932, ModBase:O95721, NCBI Gene:9342, OMIM:604202, OMIM:609528, RefSeq DNA:NG_012152, RefSeq DNA:NT_011520, RefSeq Protein:NP_004773, RefSeq RNA:NM_004782, UCSC Genome Browser:NM_004782, UniProtKB:O95721 No chr22 21213292 21245502 20859004 20891214 +PA164725983 116841 HGNC:30669 ENSG00000143740 synaptosome associated protein 47 SNAP47 synaptosomal-associated protein, 47kDa C1orf142, SNAP-47, SVAP1 Yes No Ensembl:ENSG00000143740, GeneCard:SNAP47, HGNC:HGNC:30669, HumanCyc Gene:HS13982, NCBI Gene:116841, RefSeq DNA:NT_167186, RefSeq Protein:NP_444280, RefSeq RNA:NM_053052, UniProtKB:Q5SQN1 No chr1 227922697 227968932 227728168 227781231 +PA37956 9892 HGNC:14986 ENSG00000065609 synaptosome associated protein 91 SNAP91 synaptosomal-associated protein, 91kDa AP180, CALM, KIAA0656 Yes No Ensembl:ENSG00000065609, GenAtlas:SNAP91, GeneCard:SNAP91, HGNC:HGNC:14986, HumanCyc Gene:HS12175, ModBase:O60641, NCBI Gene:9892, OMIM:607923, RefSeq DNA:NT_007299, RefSeq Protein:NP_001229721, RefSeq Protein:NP_001229722, RefSeq Protein:NP_001229723, RefSeq Protein:NP_055656, RefSeq RNA:NM_001242792, RefSeq RNA:NM_001242793, RefSeq RNA:NM_001242794, RefSeq RNA:NM_014841, RefSeq RNA:NR_026669, UCSC Genome Browser:NM_014841, UniProtKB:O60641 No chr6 84262604 84419127 83552885 83709408 +PA35982 6617 HGNC:11134 ENSG00000023608 small nuclear RNA activating complex polypeptide 1 SNAPC1 small nuclear RNA activating complex, polypeptide 1, 43kDa PTFgamma, SNAP43 Yes No Comparative Toxicogenomics Database:6617, Ensembl:ENSG00000023608, GenAtlas:SNAPC1, GeneCard:SNAPC1, HGNC:HGNC:11134, HumanCyc Gene:HS00428, ModBase:Q16533, NCBI Gene:6617, OMIM:600591, RefSeq DNA:NT_026437, RefSeq Protein:NP_003073, RefSeq RNA:NM_003082, UCSC Genome Browser:NM_003082, UniProtKB:B2RC42, UniProtKB:Q16533 No chr14 62229075 62263146 61762357 61796428 +PA35983 6618 HGNC:11135 ENSG00000104976 small nuclear RNA activating complex polypeptide 2 SNAPC2 small nuclear RNA activating complex, polypeptide 2, 45kDa PTFdelta, SNAP45 Yes No Comparative Toxicogenomics Database:6618, Ensembl:ENSG00000104976, GenAtlas:SNAPC2, GeneCard:SNAPC2, HGNC:HGNC:11135, HumanCyc Gene:HS02668, ModBase:Q13487, NCBI Gene:6618, OMIM:605076, RefSeq DNA:NT_077812, RefSeq Protein:NP_003074, RefSeq RNA:NM_003083, RefSeq RNA:NR_030717, UCSC Genome Browser:NM_003083, UniProtKB:Q13487 No chr19 7985194 7988136 7920309 7923251 +PA35984 6619 HGNC:11136 ENSG00000164975 small nuclear RNA activating complex polypeptide 3 SNAPC3 small nuclear RNA activating complex, polypeptide 3, 50kDa MGC132011, MGC33124, PTFbeta, SNAP50 Yes No Comparative Toxicogenomics Database:6619, Ensembl:ENSG00000164975, GenAtlas:SNAPC3, GeneCard:SNAPC3, HGNC:HGNC:11136, HumanCyc Gene:HS09168, ModBase:Q92966, NCBI Gene:6619, OMIM:602348, RefSeq DNA:NT_008413, RefSeq Protein:NP_001034786, RefSeq RNA:NM_001039697, UCSC Genome Browser:NM_003084, UniProtKB:Q92966 No chr9 15422694 15466747 15422696 15466751 +PA35985 6621 HGNC:11137 ENSG00000165684 small nuclear RNA activating complex polypeptide 4 SNAPC4 small nuclear RNA activating complex, polypeptide 4, 190kDa FLJ13451, PTFalpha, SNAP190 Yes No Comparative Toxicogenomics Database:6621, Ensembl:ENSG00000165684, GenAtlas:SNAPC4, GeneCard:SNAPC4, HGNC:HGNC:11137, HumanCyc Gene:HS09269, ModBase:Q5SXM2, NCBI Gene:6621, OMIM:602777, RefSeq DNA:NT_024000, RefSeq Protein:NP_003077, RefSeq RNA:NM_003086, UCSC Genome Browser:NM_003086, UniProtKB:Q5SXM2 No chr9 139270021 139294655 136375571 136400220 +PA37967 10302 HGNC:15484 ENSG00000174446 small nuclear RNA activating complex polypeptide 5 SNAPC5 small nuclear RNA activating complex, polypeptide 5, 19kDa SNAP19 Yes No Comparative Toxicogenomics Database:10302, Ensembl:ENSG00000174446, GenAtlas:SNAPC5, GeneCard:SNAPC5, HGNC:HGNC:15484, HumanCyc Gene:HS10799, ModBase:O75971, NCBI Gene:10302, OMIM:605979, RefSeq DNA:NT_010194, RefSeq Protein:NP_006040, RefSeq RNA:NM_006049, UCSC Genome Browser:NM_006049, UniProtKB:O75971 No chr15 66782666 66790146 66490328 66497808 +PA165618222 100750245 HGNC:38667 ENSG00000241216 small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1 SNAPC5P1 Yes No Ensembl:ENSG00000241216, HGNC:HGNC:38667, NCBI Gene:100750245 No chr6 6347320 6347600 6347087 6347367 +PA162404012 23557 HGNC:17145 ENSG00000143553 SNAP associated protein SNAPIN """BLOC-1 related complex subunit 3"", ""SNAP-25-binding protein"", ""SNAP-associated protein"", ""biogenesis of lysosomal organelles complex-1, subunit 7"", ""snapin""" BLOC1S7, BORCS3, SNAPAP Yes No Ensembl:ENSG00000143553, GeneCard:SNAPIN, HGNC:HGNC:17145, HumanCyc Gene:HS07076, NCBI Gene:23557, OMIM:607007, RefSeq DNA:NT_004487, RefSeq Protein:NP_036569, RefSeq RNA:NM_012437, UniProtKB:O95295 No chr1 153631130 153634328 153658654 153661852 +PA162404025 100126798 HGNC:34304 small ILF3/NF90-associated RNA A1 SNAR-A1 SNAR-A53113498 Yes No GeneCard:SNAR-A1, HGNC:HGNC:34304, NCBI Gene:100126798, RefSeq DNA:NT_011109, RefSeq RNA:NR_004435 No chr19 48421686 48421807 47918429 47918550 +PA162404026 100170216 HGNC:34313 small ILF3/NF90-associated RNA A10 SNAR-A10 snaR-A55318263 Yes No GeneCard:SNAR-A10, HGNC:HGNC:34313, NCBI Gene:100170216, RefSeq DNA:NT_011109, RefSeq RNA:NR_024229 No chr19 50626331 50626451 50123074 50123194 +PA162404027 100169954 HGNC:34314 small ILF3/NF90-associated RNA A11 SNAR-A11 snaR-A55323591 Yes No GeneCard:SNAR-A11, HGNC:HGNC:34314, NCBI Gene:100169954, RefSeq DNA:NT_011109, RefSeq RNA:NR_024225 No chr19 50631659 50631779 50128402 50128522 +PA162404028 100126800 HGNC:34315 small ILF3/NF90-associated RNA A12 SNAR-A12 Yes No GeneCard:SNAR-A12, HGNC:HGNC:34315, NCBI Gene:100126800, RefSeq DNA:NT_011109, RefSeq RNA:NR_004437 No chr19 48410935 48411056 47907678 47907799 +PA162404029 100169959 HGNC:34316 small ILF3/NF90-associated RNA A13 SNAR-A13 snaR-A53139991 Yes No GeneCard:SNAR-A13, HGNC:HGNC:34316, NCBI Gene:100169959, RefSeq DNA:NT_011109, RefSeq RNA:NR_024216 No chr19 48448179 48448300 47944922 47945043 +PA162404030 100191063 HGNC:34338 small ILF3/NF90-associated RNA A14 SNAR-A14 SNAR-A55293015 Yes No GeneCard:SNAR-A14, HGNC:HGNC:34338, NCBI Gene:100191063, RefSeq DNA:NT_011109, RefSeq RNA:NR_024242 No chr19 50601083 50601203 50097826 50097946 +PA162404031 100126799 HGNC:34305 small ILF3/NF90-associated RNA A2 SNAR-A2 SNAR-A53129250 Yes No GeneCard:SNAR-A2, HGNC:HGNC:34305, NCBI Gene:100126799, RefSeq DNA:NT_011109, RefSeq RNA:NR_004436 No chr19 48437438 48437559 47934181 47934302 +PA162404032 100169951 HGNC:34306 small ILF3/NF90-associated RNA A3 SNAR-A3 snaR-A53118848 Yes No GeneCard:SNAR-A3, HGNC:HGNC:34306, NCBI Gene:100169951, RefSeq DNA:NT_011109, RefSeq RNA:NR_024214 No chr19 48427036 48427156 47923779 47923899 +PA162404033 100169956 HGNC:34307 small ILF3/NF90-associated RNA A4 SNAR-A4 snaR-A55287678 Yes No GeneCard:SNAR-A4, HGNC:HGNC:34307, NCBI Gene:100169956, RefSeq DNA:NT_011109, RefSeq RNA:NR_024215 No chr19 50595746 50595866 50092489 50092609 +PA162404034 100169952 HGNC:34308 small ILF3/NF90-associated RNA A5 SNAR-A5 snaR-A55296080 Yes No GeneCard:SNAR-A5, HGNC:HGNC:34308, NCBI Gene:100169952, RefSeq DNA:NT_011109, RefSeq RNA:NR_024223 No chr19 50604148 50604268 50100891 50101011 +PA162404035 100169957 HGNC:34309 small ILF3/NF90-associated RNA A6 SNAR-A6 snaR-A55299144 Yes No GeneCard:SNAR-A6, HGNC:HGNC:34309, NCBI Gene:100169957, RefSeq DNA:NT_011109, RefSeq RNA:NR_024227 No chr19 50607212 50607332 50103955 50104075 +PA162404036 100169953 HGNC:34310 small ILF3/NF90-associated RNA A7 SNAR-A7 snaR-A55302203 Yes No GeneCard:SNAR-A7, HGNC:HGNC:34310, NCBI Gene:100169953, RefSeq DNA:NT_011109, RefSeq RNA:NR_024224 No chr19 50610271 50610391 50107014 50107134 +PA162404037 100169958 HGNC:34311 small ILF3/NF90-associated RNA A8 SNAR-A8 snaR-A55307557 Yes No GeneCard:SNAR-A8, HGNC:HGNC:34311, NCBI Gene:100169958, RefSeq DNA:NT_011109, RefSeq RNA:NR_024228 No chr19 50615625 50615745 50112368 50112488 +PA162404038 100169955 HGNC:34312 small ILF3/NF90-associated RNA A9 SNAR-A9 snaR-A55312909 Yes No GeneCard:SNAR-A9, HGNC:HGNC:34312, NCBI Gene:100169955, RefSeq DNA:NT_011109, RefSeq RNA:NR_024226 No chr19 50620977 50621097 50117720 50117840 +PA162404039 100170224 HGNC:34317 small ILF3/NF90-associated RNA B1 SNAR-B1 Yes No GeneCard:SNAR-B1, HGNC:HGNC:34317, NCBI Gene:100170224, RefSeq DNA:NT_011109, RefSeq RNA:NR_024231 No chr19 50637002 50637121 50133745 50133864 +PA162404040 100170217 HGNC:34318 small ILF3/NF90-associated RNA B2 SNAR-B2 Yes No GeneCard:SNAR-B2, HGNC:HGNC:34318, NCBI Gene:100170217, RefSeq DNA:NT_011109, RefSeq RNA:NR_024230 No chr19 50642375 50642494 50139118 50139237 +PA162404041 100170225 HGNC:34319 small ILF3/NF90-associated RNA C1 SNAR-C1 Yes No GeneCard:SNAR-C1, HGNC:HGNC:34319, NCBI Gene:100170225, RefSeq DNA:NT_011109, RefSeq RNA:NR_024220 No chr19 48458939 48459058 47955682 47955801 +PA162404042 100170218 HGNC:34320 small ILF3/NF90-associated RNA C2 SNAR-C2 Yes No GeneCard:SNAR-C2, HGNC:HGNC:34320, NCBI Gene:100170218, RefSeq DNA:NT_011109, RefSeq RNA:NR_024217 No chr19 48432075 48432194 47928818 47928937 +PA162404043 100170226 HGNC:34321 small ILF3/NF90-associated RNA C3 SNAR-C3 Yes No GeneCard:SNAR-C3, HGNC:HGNC:34321, NCBI Gene:100170226, RefSeq DNA:NT_011109, RefSeq RNA:NR_024221 No chr19 48453553 48453671 47950296 47950414 +PA162404044 100170219 HGNC:34322 small ILF3/NF90-associated RNA C4 SNAR-C4 Yes No GeneCard:SNAR-C4, HGNC:HGNC:34322, NCBI Gene:100170219, RefSeq DNA:NT_011109, RefSeq RNA:NR_024218 No chr19 48442798 48442917 47939541 47939660 +PA162404045 100170223 HGNC:34323 small ILF3/NF90-associated RNA C5 SNAR-C5 Yes No GeneCard:SNAR-C5, HGNC:HGNC:34323, NCBI Gene:100170223, RefSeq DNA:NT_011109, RefSeq RNA:NR_024219 No chr19 48416308 48416427 47913051 47913170 +PA162404046 100170227 HGNC:34324 small ILF3/NF90-associated RNA D SNAR-D Yes No GeneCard:SNAR-D, HGNC:HGNC:34324, NCBI Gene:100170227, RefSeq DNA:NT_011109, RefSeq RNA:NR_024243 No chr19 50643459 50643577 50140202 50140320 +PA162404047 100170220 HGNC:34325 small ILF3/NF90-associated RNA E SNAR-E Yes No GeneCard:SNAR-E, HGNC:HGNC:34325, NCBI Gene:100170220, RefSeq DNA:NT_011109, RefSeq RNA:NR_024258 No chr19 47333842 47333961 46830585 46830704 +PA162404048 100126781 HGNC:34326 small ILF3/NF90-associated RNA F SNAR-F Yes No GeneCard:SNAR-F, HGNC:HGNC:34326, NCBI Gene:100126781, RefSeq DNA:NT_011109, RefSeq RNA:NR_004384 No chr19 51108220 51108342 50604963 50605085 +PA162404049 100126780 HGNC:34327 small ILF3/NF90-associated RNA G1 SNAR-G1 Yes No GeneCard:SNAR-G1, HGNC:HGNC:34327, NCBI Gene:100126780, RefSeq DNA:NT_011109, RefSeq RNA:NR_004383 No chr19 49540277 49540404 49037020 49037147 +PA162404050 100170228 HGNC:34328 small ILF3/NF90-associated RNA G2 SNAR-G2 Yes No GeneCard:SNAR-G2, HGNC:HGNC:34328, NCBI Gene:100170228, RefSeq DNA:NT_011109, RefSeq RNA:NR_024244 No chr19 49534926 49535044 49031669 49031787 +PA162404051 100170221 HGNC:34329 small ILF3/NF90-associated RNA H SNAR-H small ILF3/NF90-associated RNA 2 snaR-2 Yes No GeneCard:SNAR-H, HGNC:HGNC:34329, NCBI Gene:100170221, RefSeq DNA:NT_022184, RefSeq RNA:NR_024342 No chr2 78182033 78182152 77954907 77955026 +PA162404052 100170222 HGNC:34330 small ILF3/NF90-associated RNA I SNAR-I small ILF3/NF90-associated RNA 3 snaR-3 Yes No GeneCard:SNAR-I, HGNC:HGNC:34330, NCBI Gene:100170222, RefSeq DNA:NT_005612, RefSeq RNA:NR_024343 No chr3 190595719 190595839 190877930 190878050 +PA35986 6622 HGNC:11138 ENSG00000145335 synuclein alpha SNCA """a-synuclein"", ""non A4 component of amyloid precursor"", ""synuclein, alpha (non A4 component of amyloid precursor)"", ""α-synuclein""" NACP, PARK1, PARK4, PD1, alpha-synuclein Yes No Comparative Toxicogenomics Database:6622, Ensembl:ENSG00000145335, GenAtlas:SNCA, GeneCard:SNCA, HGNC:HGNC:11138, HumanCyc Gene:HS07245, ModBase:P37840, NCBI Gene:6622, OMIM:127750, OMIM:163890, OMIM:168601, OMIM:605543, RefSeq DNA:NG_011851, RefSeq DNA:NT_016354, RefSeq Protein:NP_000336, RefSeq Protein:NP_001139526, RefSeq Protein:NP_001139527, RefSeq Protein:NP_009292, RefSeq RNA:NM_000345, RefSeq RNA:NM_001146054, RefSeq RNA:NM_001146055, RefSeq RNA:NM_007308, UCSC Genome Browser:NM_000345, UniProtKB:P37840 No chr4 90645250 90759447 89724099 89838324 +PA35987 9627 HGNC:11139 ENSG00000064692 synuclein alpha interacting protein SNCAIP """synphilin"", ""synuclein, alpha interacting protein""" SYPH1 Yes No Comparative Toxicogenomics Database:9627, Ensembl:ENSG00000064692, GenAtlas:SNCAIP, GeneCard:SNCAIP, HGNC:HGNC:11139, HumanCyc Gene:HS00815, ModBase:Q9Y6H5, NCBI Gene:9627, OMIM:168600, OMIM:603779, RefSeq DNA:NG_011486, RefSeq DNA:NT_034772, RefSeq Protein:NP_005451, RefSeq RNA:NM_005460, UCSC Genome Browser:NM_005460, UniProtKB:Q9Y6H5 No chr5 121647455 121799794 122311354 122464219 +PA35988 6620 HGNC:11140 ENSG00000074317 synuclein beta SNCB """synuclein, beta"", ""β-synuclein"", ""ß-synuclein""" Yes No Comparative Toxicogenomics Database:6620, Ensembl:ENSG00000074317, GenAtlas:SNCB, GeneCard:SNCB, HGNC:HGNC:11140, HumanCyc Gene:HS01136, ModBase:Q16143, NCBI Gene:6620, OMIM:127750, OMIM:602569, RefSeq DNA:NG_012131, RefSeq DNA:NT_023133, RefSeq Protein:NP_001001502, RefSeq Protein:NP_003076, RefSeq RNA:NM_001001502, RefSeq RNA:NM_003085, UCSC Genome Browser:NM_003085, UniProtKB:Q16143 No chr5 176047210 176057557 176620084 176630561 +PA35989 6623 HGNC:11141 ENSG00000173267 synuclein gamma SNCG """breast cancer-specific gene 1"", ""synoretin"", ""synuclein, gamma (breast cancer-specific protein 1)"", ""¿-synuclein"", ""É£-synuclein""" BCSG1, SR, persyn Yes No Comparative Toxicogenomics Database:6623, Ensembl:ENSG00000173267, GenAtlas:SNCG, GeneCard:SNCG, HGNC:HGNC:11141, HumanCyc Gene:HS10641, ModBase:O76070, NCBI Gene:6623, OMIM:602998, RefSeq DNA:NG_008783, RefSeq DNA:NT_030059, RefSeq Protein:NP_003078, RefSeq RNA:NM_003087, UCSC Genome Browser:NM_003087, UniProtKB:O76070, UniProtKB:Q6FHG5 No chr10 88717504 88723017 86958531 86963260 +PA162404053 27044 HGNC:30646 ENSG00000197157 staphylococcal nuclease and tudor domain containing 1 SND1 Tudor-SN, p100 EBNA2 co-activator TDRD11, TSN, p100 Yes No Ensembl:ENSG00000197157, GeneCard:SND1, HGNC:HGNC:30646, ModBase:Q7KZF4, NCBI Gene:27044, OMIM:602181, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_055205, RefSeq RNA:NM_014390, UniProtKB:Q7KZF4 No chr7 127292043 127732659 127652119 128092607 +PA162380606 27099 HGNC:24158 ENSG00000279078 SND1 intronic transcript 1 (non-protein coding) SND1-IT1 nasopharyngeal carcinoma associated gene protein-8 NAG8, NSG-X Yes No Ensembl:ENSG00000279078, GeneCard:C7orf54, HGNC:HGNC:24158, NCBI Gene:27099, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_055226, RefSeq RNA:NM_014411, RefSeq RNA:NR_027330 No chr7 127637562 127640130 127997509 128000077 +PA134946370 25992 HGNC:24696 ENSG00000162804 sushi, nidogen and EGF like domains 1 SNED1 sushi, nidogen and EGF-like domains 1 FLJ00133, SST3, Snep Yes No Comparative Toxicogenomics Database:25992, Ensembl:ENSG00000162804, GeneCard:SNED1, HGNC:HGNC:24696, ModBase:Q8TER0, NCBI Gene:25992, RefSeq DNA:NT_005416, RefSeq Protein:NP_001073906, RefSeq RNA:NM_001080437, UniProtKB:Q8TER0 No chr2 241938213 242038515 240997409 241095568 +PA142670892 11267 HGNC:17028 ENSG00000159210 SNF8 subunit of ESCRT-II SNF8 """SNF8, ESCRT-II complex subunit"", ""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)""" Dot3, EAP30, VPS22 Yes No Ensembl:ENSG00000159210, GeneCard:SNF8, HGNC:HGNC:17028, HumanCyc Gene:HS08373, ModBase:Q96H20, NCBI Gene:11267, OMIM:610904, RefSeq DNA:NT_010783, RefSeq Protein:NP_009172, RefSeq RNA:NM_007241, UniProtKB:Q96H20 No chr17 47007458 47022484 48930096 48944842 +PA147357289 23642 HGNC:32688 ENSG00000255717 small nucleolar RNA host gene 1 (non-protein coding) SNHG1 U22 snoRNA host gene, long intergenic non-protein coding RNA 57, non-protein coding RNA 57 LINC00057, NCRNA00057, UHG Yes No Ensembl:ENSG00000255717, GeneCard:SNHG1, HGNC:HGNC:32688, NCBI Gene:23642, OMIM:603222, RefSeq DNA:NT_167190, RefSeq RNA:NR_003098 No chr11 62619460 62623360 62851988 62855888 +PA162404106 283596 HGNC:27510 ENSG00000247092 small nucleolar RNA host gene 10 (non-protein coding) SNHG10 long intergenic non-protein coding RNA 63, non-protein coding RNA 63 FLJ40557, LINC00063, NCRNA00063 Yes No Ensembl:ENSG00000247092, GeneCard:SNHG10, HGNC:HGNC:27510, NCBI Gene:283596, RefSeq DNA:NT_026437, RefSeq RNA:NR_001459, RefSeq RNA:NR_003138 No chr14 95999249 96001209 95532912 95534872 +PA162404110 128439 HGNC:25046 ENSG00000174365 small nucleolar RNA host gene 11 (non-protein coding) SNHG11 long intergenic non-protein coding RNA 101 LINC00101 Yes No Ensembl:ENSG00000174365, GeneCard:SNHG11, HGNC:HGNC:25046, HumanCyc Gene:HS16327, NCBI Gene:128439, RefSeq DNA:NT_011362, RefSeq RNA:NR_003239 No chr20 37075297 37079564 38446654 38450921 +PA164725998 85028 HGNC:30062 ENSG00000197989 small nucleolar RNA host gene 12 (non-protein coding) SNHG12 long intergenic non-protein coding RNA 100 LINC00100, PNAS-123 Yes No Ensembl:ENSG00000197989, GeneCard:SNHG12, HGNC:HGNC:30062, NCBI Gene:85028, RefSeq DNA:NT_004610, RefSeq RNA:NR_024127 No chr1 28905050 28908366 28578538 28581854 +PA147358570 285958 HGNC:27797 ENSG00000232956 small nucleolar RNA host gene 15 (non-protein coding) SNHG15 FLJ38860 Yes No Ensembl:ENSG00000232956, GeneCard:C7orf40, HGNC:HGNC:27797, NCBI Gene:285958, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_003697 No chr7 45022627 45026259 44983028 44986660 +PA34484 8420 HGNC:10118 ENSG00000242125 small nucleolar RNA host gene 3 (non-protein coding) SNHG3 non-protein coding RNA 14 NCRNA00014, U17HG, U17HG-A Yes No Ensembl:ENSG00000242125, GenAtlas:RNU17D, GeneCard:SNHG3, HGNC:HGNC:10118, HumanCyc Gene:HS11828, NCBI Gene:8420, OMIM:603238, RefSeq DNA:NT_004610, RefSeq RNA:NR_002909, RefSeq RNA:NR_036473 No chr1 28832455 28837404 28505943 28510892 +PA38786 50854 HGNC:19078 ENSG00000204387, ENSG00000206380, ENSG00000226710, ENSG00000229300, ENSG00000234728 small nucleolar RNA host gene 32 SNHG32 chromosome 6 open reading frame 48 C6orf48, D6S57, G8 Yes No Comparative Toxicogenomics Database:50854, Ensembl:ENSG00000204387, Ensembl:ENSG00000206380, Ensembl:ENSG00000226710, Ensembl:ENSG00000229300, Ensembl:ENSG00000234728, GenAtlas:C6orf48, GeneCard:C6orf48, HGNC:HGNC:19078, HumanCyc Gene:HS01868, NCBI Gene:50854, OMIM:605447, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167248, RefSeq Protein:NP_001035527, RefSeq Protein:NP_001035528, RefSeq RNA:NM_001040437, RefSeq RNA:NM_001040438, UCSC Genome Browser:NM_016947, UniProtKB:Q9UBA7 No chr6 31802693 31807541 31834915 31839766 +PA147357290 724102 HGNC:32964 ENSG00000281398 small nucleolar RNA host gene 4 (non-protein coding) SNHG4 non-protein coding RNA 59 NCRNA00059, U19H Yes No Ensembl:ENSG00000281398, GeneCard:SNHG4, HGNC:HGNC:32964, NCBI Gene:724102, RefSeq DNA:NT_034772, RefSeq RNA:NR_003141, RefSeq RNA:NR_036536 No chr5 138609441 138618873 139273752 139283184 +PA134922440 387066 HGNC:21026 ENSG00000203875 small nucleolar RNA host gene 5 (non-protein coding) SNHG5 long intergenic non-protein coding RNA 44, non-protein coding RNA 44 LINC00044, MGC16362, NCRNA00044, U50HG, bA33E24.2 Yes No Ensembl:ENSG00000203875, GeneCard:SNHG5, HGNC:HGNC:21026, NCBI Gene:387066, OMIM:613263, RefSeq DNA:NT_007299, RefSeq RNA:NR_003038 No chr6 86386725 86388451 85677007 85678733 +PA147357291 641638 HGNC:32965 ENSG00000245910 small nucleolar RNA host gene 6 (non-protein coding) SNHG6 non-protein coding RNA 58 HBII-276HG, NCRNA00058, U87HG Yes No Ensembl:ENSG00000245910, GeneCard:SNHG6, HGNC:HGNC:32965, NCBI Gene:641638, OMIM:612215, RefSeq DNA:NT_008183, RefSeq RNA:NR_002599 No chr8 67834165 67837778 66921930 66925542 +PA147357292 84973 HGNC:28254 ENSG00000233016 small nucleolar RNA host gene 7 (non-protein coding) SNHG7 non-protein coding RNA 61 MGC16037, NCRNA00061 Yes No Ensembl:ENSG00000233016, GeneCard:SNHG7, HGNC:HGNC:28254, NCBI Gene:84973, RefSeq DNA:NT_024000, RefSeq RNA:NR_003672, RefSeq RNA:NR_024542, RefSeq RNA:NR_024543 No chr9 139619046 139622636 136724594 136728184 +PA147357293 100093630 HGNC:33098 ENSG00000269893 small nucleolar RNA host gene 8 (non-protein coding) SNHG8 long intergenic non-protein coding RNA 60, non-protein coding RNA 60 LINC00060, NCRNA00060 Yes No Ensembl:ENSG00000269893, GeneCard:SNHG8, HGNC:HGNC:33098, NCBI Gene:100093630, RefSeq DNA:NT_016354, RefSeq RNA:NR_003584, RefSeq RNA:NR_034010, RefSeq RNA:NR_034011 No chr4 119199917 119200978 118278762 118279823 +PA147357294 735301 HGNC:33102 ENSG00000255198 small nucleolar RNA host gene 9 (non-protein coding) SNHG9 non-protein coding RNA 62 DKFZp686N06141, NCRNA00062 Yes No Ensembl:ENSG00000255198, GeneCard:SNHG9, HGNC:HGNC:33102, NCBI Gene:735301, RefSeq DNA:NT_010393, RefSeq RNA:NR_003142 No chr16 2014997 2015505 1964996 1965504 +PA142670893 79753 HGNC:30587 ENSG00000163877 Smad nuclear interacting protein 1 SNIP1 PML1 homolog (yeast) PML1 Yes No Comparative Toxicogenomics Database:79753, Ensembl:ENSG00000163877, GeneCard:SNIP1, HGNC:HGNC:30587, HumanCyc Gene:HS15119, ModBase:Q8TAD8, NCBI Gene:79753, OMIM:608241, RefSeq DNA:NT_032977, RefSeq Protein:NP_078976, RefSeq RNA:NM_024700, UniProtKB:B1AK66, UniProtKB:Q8TAD8 No chr1 38000050 38019945 37534449 37554344 +PA35991 8303 HGNC:11149 ENSG00000184602 stannin SNN hemotin Yes No Comparative Toxicogenomics Database:8303, Ensembl:ENSG00000184602, GenAtlas:SNN, GeneCard:SNN, HGNC:HGNC:11149, NCBI Gene:8303, OMIM:603032, RefSeq DNA:NT_010393, RefSeq Protein:NP_003489, RefSeq RNA:NM_003498, UCSC Genome Browser:NM_003498, UniProtKB:O75324 No chr16 11762289 11773015 11668433 11679159 +PA144596350 677792 HGNC:32557 ENSG00000206834 small nucleolar RNA, H/ACA box 1 SNORA1 ACA1 Yes No Ensembl:ENSG00000206834, GeneCard:SNORA1, HGNC:HGNC:32557, NCBI Gene:677792, RefSeq DNA:NT_167190, RefSeq RNA:NR_003026 No chr11 93465170 93465299 93732004 93732133 +PA144596332 574042 HGNC:32598 ENSG00000206811 small nucleolar RNA, H/ACA box 10 SNORA10 ACA10 Yes No Ensembl:ENSG00000206811, GeneCard:SNORA10, HGNC:HGNC:32598, NCBI Gene:574042, RefSeq DNA:NT_010393, RefSeq RNA:NR_002327 No chr16 2012335 2012467 1962334 1962466 +PA144596333 677799 HGNC:32599 ENSG00000221716 small nucleolar RNA, H/ACA box 11 SNORA11 small nucleolar RNA, H/ACA box 11A SNORA11A, U107 Yes No Ensembl:ENSG00000221716, GeneCard:SNORA11, HGNC:HGNC:32599, NCBI Gene:677799, OMIM:300662, RefSeq DNA:NT_011630, RefSeq RNA:NR_002953 No chrX 54840803 54840933 54814370 54814500 +PA162404151 100124539 HGNC:33620 ENSG00000221102 small nucleolar RNA, H/ACA box 11B SNORA11B Yes No Ensembl:ENSG00000221102, GeneCard:SNORA11B, HGNC:HGNC:33620, NCBI Gene:100124539, RefSeq DNA:NT_026437, RefSeq RNA:NR_003709 No chr14 91592770 91592896 91126426 91126552 +PA162404152 100124540 HGNC:33621 ENSG00000221459 small nucleolar RNA, H/ACA box 11C SNORA11C Yes No Ensembl:ENSG00000221459, GeneCard:SNORA11C, HGNC:HGNC:33621, NCBI Gene:100124540, RefSeq DNA:NT_079573, RefSeq RNA:NR_003710 No chrX 47248049 47248175 47388650 47388776 +PA162404153 100124541 HGNC:33622 ENSG00000221475 small nucleolar RNA, H/ACA box 11D SNORA11D Yes No Ensembl:ENSG00000221475, GeneCard:SNORA11D, HGNC:HGNC:33622, NCBI Gene:100124541, RefSeq DNA:NT_011638, RefSeq RNA:NR_003711 No chrX 51933718 51933844 52190622 52190748 +PA162404154 100124542 HGNC:33623 ENSG00000221705 small nucleolar RNA, H/ACA box 11E SNORA11E Yes No Ensembl:ENSG00000221705, GeneCard:SNORA11E, HGNC:HGNC:33623, NCBI Gene:100124542, RefSeq DNA:NT_011638, RefSeq RNA:NR_003712 No chrX +PA144596334 677800 HGNC:32600 ENSG00000212464 small nucleolar RNA, H/ACA box 12 SNORA12 U108 Yes No Ensembl:ENSG00000212464, GeneCard:SNORA12, HGNC:HGNC:32600, NCBI Gene:677800, OMIM:611330, RefSeq DNA:NT_030059, RefSeq RNA:NR_002954 No chr10 101996913 101997059 100237156 100237302 +PA144596335 654322 HGNC:32601 ENSG00000238363 small nucleolar RNA, H/ACA box 13 SNORA13 ACA13 Yes No Ensembl:ENSG00000238363, GeneCard:SNORA13, HGNC:HGNC:32601, NCBI Gene:654322, RefSeq DNA:NT_034772, RefSeq RNA:NR_002922 No chr5 111497182 111497314 112161485 112161617 +PA144596336 677801 HGNC:32602 ENSG00000201643 small nucleolar RNA, H/ACA box 14A SNORA14A ACA14a Yes No Ensembl:ENSG00000201643, GeneCard:SNORA14A, HGNC:HGNC:32602, NCBI Gene:677801, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_002955 No chr7 75573101 75573234 75943783 75943916 +PA144596337 677802 HGNC:32603 ENSG00000207181 small nucleolar RNA, H/ACA box 14B SNORA14B ACA14b Yes No Ensembl:ENSG00000207181, HGNC:HGNC:32603, NCBI Gene:677802, RefSeq DNA:NT_004836, RefSeq RNA:NR_002956 No chr1 235291118 235291252 235127803 235127937 +PA144596338 677803 HGNC:32604 ENSG00000207168 small nucleolar RNA, H/ACA box 15 SNORA15 ACA15 Yes No Ensembl:ENSG00000207168, GeneCard:SNORA15, HGNC:HGNC:32604, NCBI Gene:677803, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq RNA:NR_002957 No chr7 56128163 56128295 56060470 56060602 +PA144596339 692073 HGNC:32605 ENSG00000280498 small nucleolar RNA, H/ACA box 16A SNORA16A ACA16 Yes No Ensembl:ENSG00000280498, GeneCard:SNORA16A, HGNC:HGNC:32605, NCBI Gene:692073, RefSeq DNA:NT_004610, RefSeq RNA:NR_003035 No chr1 28907432 28907565 28580920 28581053 +PA144596340 692157 HGNC:32606 ENSG00000201544 small nucleolar RNA, H/ACA box 16B SNORA16B U98b Yes No Ensembl:ENSG00000201544, GeneCard:SNORA16B, HGNC:HGNC:32606, NCBI Gene:692157, RefSeq DNA:NT_167186, RefSeq RNA:NR_004389 No chr1 212526160 212526292 212352818 212352950 +PA144596342 677805 HGNC:32608 ENSG00000207145 small nucleolar RNA, H/ACA box 18 SNORA18 ACA18 Yes No Ensembl:ENSG00000207145, GeneCard:SNORA18, HGNC:HGNC:32608, NCBI Gene:677805, RefSeq DNA:NT_167190, RefSeq RNA:NR_002959 No chr11 93466632 93466763 93733466 93733597 +PA144596343 641451 HGNC:32609 ENSG00000207468 small nucleolar RNA, H/ACA box 19 SNORA19 ACA19 Yes No Ensembl:ENSG00000207468, GeneCard:SNORA19, HGNC:HGNC:32609, NCBI Gene:641451, RefSeq DNA:NT_030059, RefSeq RNA:NR_002917 No chr10 120819523 120819650 119060011 119060138 +PA144596344 677806 HGNC:32610 ENSG00000207392 small nucleolar RNA, H/ACA box 20 SNORA20 ACA20 Yes No Ensembl:ENSG00000207392, GeneCard:SNORA20, HGNC:HGNC:32610, NCBI Gene:677806, RefSeq DNA:NT_025741, RefSeq RNA:NR_002960 No chr6 160201282 160201413 159780250 159780381 +PA144596345 619505 HGNC:32611 ENSG00000199293 small nucleolar RNA, H/ACA box 21 SNORA21 ACA21 Yes No Ensembl:ENSG00000199293, GeneCard:SNORA21, HGNC:HGNC:32611, NCBI Gene:619505, RefSeq DNA:NT_010783, RefSeq RNA:NR_002576 No chr17 37009116 37009248 38852863 38852995 +PA144596346 677807 HGNC:32612 ENSG00000206634 small nucleolar RNA, H/ACA box 22 SNORA22 ACA22 Yes No Ensembl:ENSG00000206634, GeneCard:SNORA22, HGNC:HGNC:32612, NCBI Gene:677807, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq RNA:NR_002961 No chr7 65220513 65220646 65755526 65755659 +PA144596347 677808 HGNC:32613 ENSG00000201998 small nucleolar RNA, H/ACA box 23 SNORA23 ACA23 Yes No Ensembl:ENSG00000201998, GeneCard:SNORA23, HGNC:HGNC:32613, NCBI Gene:677808, RefSeq DNA:NT_009237, RefSeq RNA:NR_002962 No chr11 9450313 9450501 9428766 9428954 +PA144596348 677809 HGNC:32614 ENSG00000275994 small nucleolar RNA, H/ACA box 24 SNORA24 ACA24 Yes No Ensembl:ENSG00000275994, GeneCard:SNORA24, HGNC:HGNC:32614, NCBI Gene:677809, RefSeq DNA:NT_016354, RefSeq RNA:NR_002963 No chr4 119200345 119200475 118279190 118279320 +PA144596349 684959 HGNC:32615 ENSG00000207112 small nucleolar RNA, H/ACA box 25 SNORA25 ACA25 Yes No Ensembl:ENSG00000207112, GeneCard:SNORA25, HGNC:HGNC:32615, NCBI Gene:684959, RefSeq DNA:NT_167190, RefSeq RNA:NR_003028 No chr11 93463679 93463812 93730513 93730646 +PA144596302 677810 HGNC:32616 ENSG00000212588 small nucleolar RNA, H/ACA box 26 SNORA26 HBI-6 Yes No Ensembl:ENSG00000212588, GeneCard:SNORA26, HGNC:HGNC:32616, NCBI Gene:677810, RefSeq DNA:NT_022853, RefSeq RNA:NR_003016 No chr4 53579416 53579537 52713249 52713370 +PA144596303 619499 HGNC:32617 ENSG00000207051 small nucleolar RNA, H/ACA box 27 SNORA27 ACA27 Yes No Ensembl:ENSG00000207051, GeneCard:SNORA27, HGNC:HGNC:32617, NCBI Gene:619499, RefSeq DNA:NT_024524, RefSeq RNA:NR_002575 No chr13 27829538 27829663 27255401 27255526 +PA144596304 677811 HGNC:32618 ENSG00000272533 small nucleolar RNA, H/ACA box 28 SNORA28 ACA28 Yes No Ensembl:ENSG00000272533, GeneCard:SNORA28, HGNC:HGNC:32618, NCBI Gene:677811, RefSeq DNA:NT_026437, RefSeq RNA:NR_002964 No chr14 103804186 103804311 103337849 103337974 +PA144596305 677812 HGNC:32619 ENSG00000206910 small nucleolar RNA, H/ACA box 29 SNORA29 ACA29 Yes No Ensembl:ENSG00000206910, GeneCard:SNORA29, HGNC:HGNC:32619, NCBI Gene:677812, RefSeq DNA:NT_025741, RefSeq RNA:NR_002965 No chr6 160206626 160206765 159785594 159785733 +PA144596351 677793 HGNC:32584 ENSG00000206612 small nucleolar RNA, H/ACA box 2A SNORA2A ACA2A Yes No Ensembl:ENSG00000206612, GeneCard:SNORA2A, HGNC:HGNC:32584, NCBI Gene:677793, RefSeq DNA:NT_029419, RefSeq RNA:NR_002950 No chr12 49050431 49050565 48656648 48656782 +PA144596352 677794 HGNC:32585 ENSG00000207313 small nucleolar RNA, H/ACA box 2B SNORA2B ACA2b Yes No Ensembl:ENSG00000207313, GeneCard:SNORA2B, HGNC:HGNC:32585, NCBI Gene:677794, RefSeq DNA:NT_029419, RefSeq RNA:NR_002951 No chr12 49061240 49061376 48667457 48667593 +PA144596306 677813 HGNC:32620 ENSG00000206755 small nucleolar RNA, H/ACA box 30 SNORA30 ACA30 Yes No Ensembl:ENSG00000206755, GeneCard:SNORA30, HGNC:HGNC:32620, NCBI Gene:677813, RefSeq DNA:NT_010393, RefSeq RNA:NR_002966 No chr16 30721858 30721986 30710537 30710665 +PA144596307 677814 HGNC:32621 ENSG00000199477 small nucleolar RNA, H/ACA box 31 SNORA31 ACA31 Yes No Ensembl:ENSG00000199477, GeneCard:SNORA31, HGNC:HGNC:32621, NCBI Gene:677814, RefSeq DNA:NT_024524, RefSeq RNA:NR_002967 No chr13 45911615 45911744 45337480 45337609 +PA144596308 692063 HGNC:32622 ENSG00000206799 small nucleolar RNA, H/ACA box 32 SNORA32 ACA32 Yes No Ensembl:ENSG00000206799, GeneCard:SNORA32, HGNC:HGNC:32622, NCBI Gene:692063, RefSeq DNA:NT_167190, RefSeq RNA:NR_003032 No chr11 93464145 93464265 93730979 93731099 +PA144596309 594839 HGNC:32623 ENSG00000200534 small nucleolar RNA, H/ACA box 33 SNORA33 ACA33 Yes No Ensembl:ENSG00000200534, GeneCard:SNORA33, HGNC:HGNC:32623, NCBI Gene:594839, RefSeq DNA:NT_025741, RefSeq RNA:NR_002436 No chr6 133138358 133138490 132817219 132817351 +PA144596311 677816 HGNC:32625 ENSG00000208839 small nucleolar RNA, H/ACA box 35 SNORA35 HBI-36 Yes No Ensembl:ENSG00000208839, GeneCard:SNORA35, HGNC:HGNC:32625, NCBI Gene:677816, RefSeq DNA:NT_028405, RefSeq RNA:NR_002993 No chrX 113865259 113865386 114630797 114630924 +PA144596312 677817 HGNC:32628 ENSG00000206948 small nucleolar RNA, H/ACA box 36A SNORA36A ACA36 Yes No Ensembl:ENSG00000206948, GeneCard:SNORA36A, HGNC:HGNC:32628, NCBI Gene:677817, RefSeq DNA:NT_167198, RefSeq RNA:NR_002969 No chrX 153996803 153996934 154768528 154768659 +PA144596313 677818 HGNC:32629 ENSG00000222370 small nucleolar RNA, H/ACA box 36B SNORA36B ACA36b Yes No Ensembl:ENSG00000222370, GeneCard:SNORA36B, HGNC:HGNC:32629, NCBI Gene:677818, RefSeq DNA:NT_167186, RefSeq RNA:NR_002994 No chr1 220373888 220374018 220200546 220200676 +PA162404155 100124535 HGNC:33616 ENSG00000207016 small nucleolar RNA, H/ACA box 36C SNORA36C Yes No Ensembl:ENSG00000207016, GeneCard:SNORA36C, HGNC:HGNC:33616, NCBI Gene:100124535, RefSeq DNA:NT_022184, RefSeq RNA:NR_003705 No chr2 69747176 69747303 69520044 69520171 +PA144596314 677819 HGNC:32630 ENSG00000207233 small nucleolar RNA, H/ACA box 37 SNORA37 ACA37 Yes No Ensembl:ENSG00000207233, GeneCard:SNORA37, HGNC:HGNC:32630, NCBI Gene:677819, RefSeq DNA:NT_010966, RefSeq RNA:NR_002970 No chr18 51748654 51748782 54222284 54222412 +PA144596315 677820 HGNC:32631 ENSG00000200816 small nucleolar RNA, H/ACA box 38 SNORA38 ACA38 Yes No Ensembl:ENSG00000200816, GeneCard:SNORA38, HGNC:HGNC:32631, NCBI Gene:677820, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_002971 No chr6 31590856 31590987 31623079 31623210 +PA162404156 100124536 HGNC:33617 ENSG00000200394 small nucleolar RNA, H/ACA box 38B SNORA38B Yes No Ensembl:ENSG00000200394, GeneCard:SNORA38B, HGNC:HGNC:33617, NCBI Gene:100124536, RefSeq DNA:NT_010783, RefSeq RNA:NR_003706 No chr17 65736786 65736917 67740670 67740801 +PA144596354 619568 HGNC:32587 ENSG00000263776 small nucleolar RNA, H/ACA box 4 SNORA4 ACA4 Yes No Ensembl:ENSG00000263776, GeneCard:SNORA4, HGNC:HGNC:32587, NCBI Gene:619568, RefSeq DNA:NT_005612, RefSeq RNA:NR_002588 No chr3 186505402 186505538 186787613 186787749 +PA144596317 677822 HGNC:32633 ENSG00000210825 small nucleolar RNA, H/ACA box 40 SNORA40 ACA40 Yes No Ensembl:ENSG00000210825, GeneCard:SNORA40, HGNC:HGNC:32633, NCBI Gene:677822, RefSeq DNA:NT_167190, RefSeq RNA:NR_002973 No chr11 93468276 93468402 93735110 93735236 +PA144596318 619569 HGNC:32634 ENSG00000207406 small nucleolar RNA, H/ACA box 41 SNORA41 ACA41 Yes No Ensembl:ENSG00000207406, GeneCard:SNORA41, HGNC:HGNC:32634, NCBI Gene:619569, RefSeq DNA:NT_005403, RefSeq RNA:NR_002590 No chr2 207026952 207027083 206162228 206162359 +PA144596321 677825 HGNC:32637 ENSG00000273544 small nucleolar RNA, H/ACA box 44 SNORA44 ACA44 Yes No Ensembl:ENSG00000273544, GeneCard:SNORA44, HGNC:HGNC:32637, NCBI Gene:677825, RefSeq DNA:NT_004610, RefSeq RNA:NR_002976 No chr1 28906893 28907024 28580381 28580512 +PA144596323 677827 HGNC:32639 ENSG00000207493 small nucleolar RNA, H/ACA box 46 SNORA46 ACA46 Yes No Ensembl:ENSG00000207493, GeneCard:SNORA46, HGNC:HGNC:32639, NCBI Gene:677827, RefSeq DNA:NT_010498, RefSeq RNA:NR_002978 No chr16 58582403 58582537 58548499 58548633 +PA144596324 677828 HGNC:32640 ENSG00000238961 small nucleolar RNA, H/ACA box 47 SNORA47 HBI-115 Yes No Ensembl:ENSG00000238961, GeneCard:SNORA47, HGNC:HGNC:32640, NCBI Gene:677828, RefSeq DNA:NT_006713, RefSeq RNA:NR_003014 No chr5 76376259 76376396 77080434 77080571 +PA144596325 652965 HGNC:32641 ENSG00000209582 small nucleolar RNA, H/ACA box 48 SNORA48 ACA48 Yes No Ensembl:ENSG00000209582, GeneCard:SNORA48, HGNC:HGNC:32641, NCBI Gene:652965, RefSeq DNA:NT_010718, RefSeq RNA:NR_002918 No chr17 7478031 7478165 7574713 7574847 +PA144596288 677829 HGNC:32642 ENSG00000208892 small nucleolar RNA, H/ACA box 49 SNORA49 ACA49 Yes No Ensembl:ENSG00000208892, GeneCard:SNORA49, HGNC:HGNC:32642, NCBI Gene:677829, RefSeq DNA:NT_009755, RefSeq RNA:NR_002979 No chr12 132515769 132515905 132031224 132031360 +PA144596290 677831 HGNC:32644 ENSG00000271798 small nucleolar RNA, H/ACA box 51 SNORA51 ACA51 Yes No Ensembl:ENSG00000271798, GeneCard:SNORA51, HGNC:HGNC:32644, NCBI Gene:677831, RefSeq DNA:NT_011387, RefSeq RNA:NR_002981 No chr20 2635713 2635844 2655067 2655198 +PA144596291 619565 HGNC:32645 ENSG00000199785 small nucleolar RNA, H/ACA box 52 SNORA52 ACA52 Yes No Ensembl:ENSG00000199785, GeneCard:SNORA52, HGNC:HGNC:32645, NCBI Gene:619565, RefSeq DNA:NT_009237, RefSeq RNA:NR_002585 No chr11 811681 811814 811681 811814 +PA144596292 677832 HGNC:32646 ENSG00000212443 small nucleolar RNA, H/ACA box 53 SNORA53 ACA53 Yes No Ensembl:ENSG00000212443, GeneCard:SNORA53, HGNC:HGNC:32646, NCBI Gene:677832, RefSeq DNA:NT_029419, RefSeq RNA:NR_003015 No chr12 98993413 98993662 98599635 98599884 +PA144596293 677833 HGNC:32647 ENSG00000207008 small nucleolar RNA, H/ACA box 54 SNORA54 ACA54 Yes No Ensembl:ENSG00000207008, GeneCard:SNORA54, HGNC:HGNC:32647, NCBI Gene:677833, RefSeq DNA:NT_009237, RefSeq RNA:NR_002982 No chr11 2985001 2985123 2963771 2963893 +PA144596294 677834 HGNC:32649 ENSG00000201457 small nucleolar RNA, H/ACA box 55 SNORA55 ACA55 Yes No Ensembl:ENSG00000201457, GeneCard:SNORA55, HGNC:HGNC:32649, NCBI Gene:677834, RefSeq DNA:NT_032977, RefSeq RNA:NR_002983 No chr1 40033046 40033182 39567374 39567510 +PA144596295 677835 HGNC:32650 ENSG00000206693 small nucleolar RNA, H/ACA box 56 SNORA56 ACA56 Yes No Ensembl:ENSG00000206693, GeneCard:SNORA56, HGNC:HGNC:32650, NCBI Gene:677835, RefSeq DNA:NT_167198, RefSeq RNA:NR_002984 No chrX 154003273 154003401 154774998 154775126 +PA144596296 692158 HGNC:32651 ENSG00000206597 small nucleolar RNA, H/ACA box 57 SNORA57 U99 Yes No Ensembl:ENSG00000206597, GeneCard:SNORA57, HGNC:HGNC:32651, NCBI Gene:692158, RefSeq DNA:NT_167190, RefSeq RNA:NR_004390 No chr11 62432894 62433042 62665422 62665570 +PA144596297 677836 HGNC:32652 ENSG00000249020 small nucleolar RNA, H/ACA box 58 SNORA58 ACA58 Yes No Ensembl:ENSG00000249020, GeneCard:SNORA58, HGNC:HGNC:32652, NCBI Gene:677836, RefSeq DNA:NT_005612, RefSeq RNA:NR_002985 No chr3 131197842 131198077 131478998 131479233 +PA144596298 677885 HGNC:32653 ENSG00000239149 small nucleolar RNA, H/ACA box 59A SNORA59A ACA59 Yes No Ensembl:ENSG00000239149, GeneCard:SNORA59A, HGNC:HGNC:32653, NCBI Gene:677885, RefSeq DNA:NT_021937, RefSeq RNA:NR_003025 No chr1 12567300 12567451 12507246 12507397 +PA144596299 677882 HGNC:32658 ENSG00000266079 small nucleolar RNA, H/ACA box 59B SNORA59B ACA59 Yes Yes Ensembl:ENSG00000266079, GeneCard:SNORA59B, HGNC:HGNC:32658, NCBI Gene:677882, RefSeq DNA:NT_010718, RefSeq RNA:NR_003022 No chr17 19460873 19461024 19557560 19557711 +PA144596355 654319 HGNC:32588 ENSG00000206838 small nucleolar RNA, H/ACA box 5A SNORA5A ACA5 Yes No Ensembl:ENSG00000206838, GeneCard:SNORA5A, HGNC:HGNC:32588, NCBI Gene:654319, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_002919 No chr7 45143948 45144081 45104349 45104482 +PA144596356 677795 HGNC:32589 ENSG00000200656 small nucleolar RNA, H/ACA box 5B SNORA5B ACA5b Yes No Ensembl:ENSG00000200656, GeneCard:SNORA5B, HGNC:HGNC:32589, NCBI Gene:677795, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_002990 No chr7 45145567 45145698 45105968 45106099 +PA144596326 677796 HGNC:32590 ENSG00000201772 small nucleolar RNA, H/ACA box 5C SNORA5C ACA5c Yes No Ensembl:ENSG00000201772, GeneCard:SNORA5C, HGNC:HGNC:32590, NCBI Gene:677796, OMIM:611335, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_002991 No chr7 45144505 45144641 45104906 45105042 +PA144596327 574040 HGNC:32591 ENSG00000206760 small nucleolar RNA, H/ACA box 6 SNORA6 ACA6 Yes No Ensembl:ENSG00000206760, GeneCard:SNORA6, HGNC:HGNC:32591, NCBI Gene:574040, RefSeq DNA:NT_022517, RefSeq RNA:NR_002325 No chr3 39449882 39450030 39408391 39408539 +PA144596300 677837 HGNC:32654 ENSG00000199266 small nucleolar RNA, H/ACA box 60 SNORA60 ACA60 Yes No Ensembl:ENSG00000199266, GeneCard:SNORA60, HGNC:HGNC:32654, NCBI Gene:677837, RefSeq DNA:NT_011362, RefSeq RNA:NR_002986 No chr20 37078012 37078147 38449369 38449504 +PA144596301 677838 HGNC:32655 ENSG00000278274 small nucleolar RNA, H/ACA box 61 SNORA61 ACA61 Yes No Ensembl:ENSG00000278274, GeneCard:SNORA61, HGNC:HGNC:32655, NCBI Gene:677838, RefSeq DNA:NT_004610, RefSeq RNA:NR_002987 No chr1 28906276 28906405 28579764 28579893 +PA34472 6044 HGNC:10107 ENSG00000272015 small nucleolar RNA, H/ACA box 62 SNORA62 E2, E2-1 Yes No Comparative Toxicogenomics Database:6044, Ensembl:ENSG00000272015, GenAtlas:SNORA62, GeneCard:SNORA62, HGNC:HGNC:10107, HumanCyc Gene:HS11812, NCBI Gene:6044, OMIM:180646, RefSeq DNA:NT_022517, RefSeq RNA:NR_002324 No chr3 39452545 39452698 39411054 39411207 +PA34471 6043 HGNC:10106 ENSG00000202449 small nucleolar RNA, H/ACA box 63 SNORA63 E3, E3-2 Yes No Ensembl:ENSG00000202449, GenAtlas:SNORA63, GeneCard:SNORA63, HGNC:HGNC:10106, HumanCyc Gene:HS11811, NCBI Gene:6043, OMIM:180647, RefSeq DNA:NT_005612, RefSeq RNA:NR_002586 No chr3 186505088 186505222 186787299 186787433 +PA34588 26784 HGNC:10221 ENSG00000207405 small nucleolar RNA, H/ACA box 64 SNORA64 U64 Yes No Ensembl:ENSG00000207405, GenAtlas:SNORA64, GeneCard:SNORA64, HGNC:HGNC:10221, HumanCyc Gene:HS11729, NCBI Gene:26784, RefSeq DNA:NT_010393, RefSeq RNA:NR_002326 No chr16 2012974 2013107 1962973 1963106 +PA34589 26783 HGNC:10222 ENSG00000201302 small nucleolar RNA, H/ACA box 65 SNORA65 U65 Yes No Ensembl:ENSG00000201302, GenAtlas:SNORA65, GeneCard:SNORA65, HGNC:HGNC:10222, HumanCyc Gene:HS11728, NCBI Gene:26783, RefSeq DNA:NT_008470, RefSeq RNA:NR_002449 No chr9 130210781 130210916 127448502 127448637 +PA34590 26782 HGNC:10223 ENSG00000207523 small nucleolar RNA, H/ACA box 66 SNORA66 U66 Yes No Ensembl:ENSG00000207523, GenAtlas:SNORA66, GeneCard:SNORA66, HGNC:HGNC:10223, HumanCyc Gene:HS11727, NCBI Gene:26782, RefSeq DNA:NT_032977, RefSeq RNA:NR_002444 No chr1 93306276 93306408 92840719 92840851 +PA34591 26781 HGNC:10224 ENSG00000277985 small nucleolar RNA, H/ACA box 67 SNORA67 U67 Yes No Ensembl:ENSG00000277985, GenAtlas:SNORA67, GeneCard:SNORA67, HGNC:HGNC:10224, HumanCyc Gene:HS11726, NCBI Gene:26781, RefSeq DNA:NT_010718, RefSeq RNA:NR_002912 No chr17 7481273 7481409 7577955 7578091 +PA34592 26780 HGNC:10225 ENSG00000207166 small nucleolar RNA, H/ACA box 68 SNORA68 U68 Yes No Ensembl:ENSG00000207166, GenAtlas:SNORA68, GeneCard:SNORA68, HGNC:HGNC:10225, HumanCyc Gene:HS11725, NCBI Gene:26780, RefSeq DNA:NT_011295, RefSeq RNA:NR_000012 No chr19 17973397 17973529 17862588 17862720 +PA34593 26779 HGNC:10226 ENSG00000206622 small nucleolar RNA, H/ACA box 69 SNORA69 U69 Yes No Ensembl:ENSG00000206622, GenAtlas:SNORA69, GeneCard:SNORA69, HGNC:HGNC:10226, HumanCyc Gene:HS11724, NCBI Gene:26779, RefSeq DNA:NT_011786, RefSeq RNA:NR_002584 No chrX 118921316 118921447 119787353 119787484 +PA34598 26778 HGNC:10231 ENSG00000251796 small nucleolar RNA, H/ACA box 70 SNORA70 DXS648E, U70 Yes No Ensembl:ENSG00000251796, GenAtlas:SNORA70, GeneCard:SNORA70, HGNC:HGNC:10231, HumanCyc Gene:HS11723, NCBI Gene:26778, RefSeq DNA:NT_167198, RefSeq RNA:NR_000011 No chrX 153628622 153628756 154400281 154400415 +PA162404160 100124537 HGNC:33618 ENSG00000206937 small nucleolar RNA, H/ACA box 70B SNORA70B Yes No Ensembl:ENSG00000206937, GeneCard:SNORA70B, HGNC:HGNC:33618, NCBI Gene:100124537, RefSeq DNA:NT_022184, RefSeq RNA:NR_003707 No chr2 61644379 61644512 61417244 61417377 +PA162404164 100124538 HGNC:33619 ENSG00000207268 small nucleolar RNA, H/ACA box 70C SNORA70C Yes No Ensembl:ENSG00000207268, GeneCard:SNORA70C, HGNC:HGNC:33619, NCBI Gene:100124538, RefSeq DNA:NT_008470, RefSeq RNA:NR_003708 No chr9 119943345 119943480 117181066 117181201 +PA164725999 100379141 HGNC:34356 ENSG00000263666 small nucleolar RNA, H/ACA box 70D SNORA70D U70D Yes No Ensembl:ENSG00000263666, HGNC:HGNC:34356, NCBI Gene:100379141 No chr16 71732470 71732604 71698567 71698701 +PA164726000 100379250 HGNC:34357 ENSG00000207221 small nucleolar RNA, H/ACA box 70E SNORA70E U70E Yes No Ensembl:ENSG00000207221, HGNC:HGNC:34357, NCBI Gene:100379250 No chr11 82752506 82752640 83041464 83041598 +PA164726001 100337591 HGNC:34358 ENSG00000206869 small nucleolar RNA, H/ACA box 70F SNORA70F U70F Yes No Ensembl:ENSG00000206869, HGNC:HGNC:34358, NCBI Gene:100337591 No chr2 165544153 165544287 164687643 164687777 +PA164726002 100379132 HGNC:34359 ENSG00000206650 small nucleolar RNA, H/ACA box 70G SNORA70G U70G Yes No Ensembl:ENSG00000206650, HGNC:HGNC:34359, NCBI Gene:100379132 No chr12 69021014 69021155 68627234 68627375 +PA34599 26777 HGNC:10232 ENSG00000225091 small nucleolar RNA, H/ACA box 71A SNORA71A U71a Yes No Ensembl:ENSG00000225091, GenAtlas:SNORA71A, GeneCard:SNORA71A, HGNC:HGNC:10232, HumanCyc Gene:HS11722, NCBI Gene:26777, RefSeq DNA:NT_011362, RefSeq RNA:NR_002911 No chr20 37055949 37056086 38427306 38427443 +PA34600 26776 HGNC:10233 ENSG00000235408 small nucleolar RNA, H/ACA box 71B SNORA71B U71b Yes No Ensembl:ENSG00000235408, GenAtlas:SNORA71B, GeneCard:SNORA71B, HGNC:HGNC:10233, HumanCyc Gene:HS11721, NCBI Gene:26776, RefSeq DNA:NT_011362, RefSeq RNA:NR_002910 No chr20 37053843 37053978 38425195 38425330 +PA144596274 677839 HGNC:32656 ENSG00000201512 small nucleolar RNA, H/ACA box 71C SNORA71C U71c Yes No Ensembl:ENSG00000201512, GeneCard:SNORA71C, HGNC:HGNC:32656, NCBI Gene:677839, RefSeq DNA:NT_011362, RefSeq RNA:NR_003017 No chr20 37058310 37058447 38429667 38429804 +PA144596275 677840 HGNC:32657 ENSG00000200354 small nucleolar RNA, H/ACA box 71D SNORA71D U71d Yes No Ensembl:ENSG00000200354, GeneCard:SNORA71D, HGNC:HGNC:32657, NCBI Gene:677840, RefSeq DNA:NT_011362, RefSeq RNA:NR_003018 No chr20 37062505 37062642 38433862 38433999 +PA34601 26775 HGNC:10234 ENSG00000207067 small nucleolar RNA, H/ACA box 72 SNORA72 U72 Yes No Ensembl:ENSG00000207067, GenAtlas:SNORA72, GeneCard:SNORA72, HGNC:HGNC:10234, HumanCyc Gene:HS11720, NCBI Gene:26775, RefSeq DNA:NT_008046, RefSeq RNA:NR_002581 No chr8 99054314 99054445 98042086 98042217 +PA34481 6080 HGNC:10115 ENSG00000274266 small nucleolar RNA, H/ACA box 73A SNORA73A E1, E1-7, E1b, U17A Yes No Ensembl:ENSG00000274266, GenAtlas:SNORA73A, GeneCard:SNORA73A, HGNC:HGNC:10115, HumanCyc Gene:HS11816, NCBI Gene:6080, OMIM:180645, RefSeq DNA:NT_004610, RefSeq RNA:NR_002907 No chr1 28833877 28834083 28507365 28507571 +PA34482 26768 HGNC:10116 ENSG00000200087 small nucleolar RNA, H/ACA box 73B SNORA73B RNU105A, U17B Yes No Ensembl:ENSG00000200087, GenAtlas:SNORA73B, GeneCard:SNORA73B, HGNC:HGNC:10116, HumanCyc Gene:HS11817, NCBI Gene:26768, OMIM:603239, RefSeq DNA:NT_004610, RefSeq RNA:NR_004406 No chr1 28835070 28835227 28508558 28508715 +PA34485 26821 HGNC:10119 ENSG00000200959 small nucleolar RNA, H/ACA box 74A SNORA74A U19 Yes No Comparative Toxicogenomics Database:26821, Ensembl:ENSG00000200959, GenAtlas:SNORA74A, GeneCard:SNORA74A, HGNC:HGNC:10119, HumanCyc Gene:HS11766, NCBI Gene:26821, RefSeq DNA:NT_034772, RefSeq RNA:NR_002915 No chr5 138614469 138614668 139278780 139278979 +PA144596276 677841 HGNC:32660 ENSG00000212402 small nucleolar RNA, H/ACA box 74B SNORA74B U19-2 Yes No Ensembl:ENSG00000212402, GeneCard:SNORA74B, HGNC:HGNC:32660, NCBI Gene:677841, OMIM:611331, RefSeq DNA:NT_023133, RefSeq RNA:NR_002988 No chr5 172447729 172447932 173020726 173020929 +PA144596277 654321 HGNC:32661 ENSG00000212432 small nucleolar RNA, H/ACA box 75 SNORA75 U23 Yes No Ensembl:ENSG00000212432, GeneCard:SNORA75, HGNC:HGNC:32661, NCBI Gene:654321, RefSeq DNA:NT_005403, RefSeq RNA:NR_002921 No chr2 232320511 232320647 231455800 231455936 +PA144596279 677843 HGNC:32663 ENSG00000221643 small nucleolar RNA, H/ACA box 77 SNORA77 ACA63 Yes No Ensembl:ENSG00000221643, GeneCard:SNORA77, HGNC:HGNC:32663, NCBI Gene:677843, RefSeq DNA:NT_004487, RefSeq RNA:NR_003019 No chr1 203698709 203698833 203729581 203729705 +PA144596280 677844 HGNC:32664 ENSG00000273587 small nucleolar RNA, H/ACA box 78 SNORA78 ACA64 Yes No Ensembl:ENSG00000273587, GeneCard:SNORA78, HGNC:HGNC:32664, NCBI Gene:677844, RefSeq DNA:NT_010393, RefSeq RNA:NR_003020 No chr16 2015185 2015311 1965184 1965310 +PA144596281 677845 HGNC:32665 ENSG00000221303 small nucleolar RNA, H/ACA box 79 SNORA79 ACA65 Yes No Ensembl:ENSG00000221303, GeneCard:SNORA79, HGNC:HGNC:32665, NCBI Gene:677845, RefSeq DNA:NT_026437, RefSeq RNA:NR_003021 No chr14 81669039 81669178 81202695 81202834 +PA144596328 619563 HGNC:32592 ENSG00000207496 small nucleolar RNA, H/ACA box 7A SNORA7A ACA7 Yes No Ensembl:ENSG00000207496, GeneCard:SNORA7A, HGNC:HGNC:32592, NCBI Gene:619563, RefSeq DNA:NT_022517, RefSeq RNA:NR_002582 No chr3 12881811 12881949 12840312 12840450 +PA144596329 677797 HGNC:32593 ENSG00000207088 small nucleolar RNA, H/ACA box 7B SNORA7B ACA7B Yes No Ensembl:ENSG00000207088, GeneCard:SNORA7B, HGNC:HGNC:32593, NCBI Gene:677797, RefSeq DNA:NT_005612, RefSeq RNA:NR_002992 No chr3 129116053 129116191 129397210 129397348 +PA144596330 654320 HGNC:32596 ENSG00000207304 small nucleolar RNA, H/ACA box 8 SNORA8 ACA8 Yes No Ensembl:ENSG00000207304, GeneCard:SNORA8, HGNC:HGNC:32596, NCBI Gene:654320, RefSeq DNA:NT_167190, RefSeq RNA:NR_002920 No chr11 93465527 93465665 93732361 93732499 +PA164726003 100302743 HGNC:34355 ENSG00000206633 small nucleolar RNA, H/ACA box 80B SNORA80B ACA67B Yes No Ensembl:ENSG00000206633, HGNC:HGNC:34355, NCBI Gene:100302743 No chr2 10586840 10586975 10446714 10446849 +PA144596283 677847 HGNC:32667 ENSG00000221420 small nucleolar RNA, H/ACA box 81 SNORA81 HBI-61 Yes No Ensembl:ENSG00000221420, GeneCard:SNORA81, HGNC:HGNC:32667, NCBI Gene:677847, OMIM:611334, RefSeq DNA:NT_005612, RefSeq RNA:NR_002989 No chr3 186504464 186504641 186786675 186786852 +PA162404165 100124534 HGNC:33615 ENSG00000239183 small nucleolar RNA, H/ACA box 84 SNORA84 Yes No Ensembl:ENSG00000239183, GeneCard:SNORA84, HGNC:HGNC:33615, NCBI Gene:100124534, RefSeq DNA:NT_008470, RefSeq RNA:NR_003704 No chr9 95054743 95054875 92292461 92292593 +PA144596331 677798 HGNC:32597 ENSG00000277184 small nucleolar RNA, H/ACA box 9 SNORA9 ACA9 Yes No Ensembl:ENSG00000277184, GeneCard:SNORA9, HGNC:HGNC:32597, NCBI Gene:677798, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_002952 No chr7 45024977 45025109 44985378 44985510 +PA162379659 389084 HGNC:33763 ENSG00000182600 secondary ossification center associated regulator of chondrocyte maturation SNORC Small Novel Rich in Cartilage, chromosome 2 open reading frame 82 ASCL830, C2orf82, UNQ830 Yes No Ensembl:ENSG00000182600, GeneCard:C2orf82, HGNC:HGNC:33763, ModBase:Q6UX34, NCBI Gene:389084, RefSeq DNA:NT_005403, RefSeq Protein:NP_996778, RefSeq RNA:NM_206895, UniProtKB:Q6UX34 No chr2 233733724 233741111 232865678 232878700 +PA145007807 652966 HGNC:32706 ENSG00000238917 small nucleolar RNA, C/D box 10 SNORD10 mgU6-77 Yes No Ensembl:ENSG00000238917, GeneCard:SNORD10, HGNC:HGNC:32706, NCBI Gene:652966, RefSeq DNA:NT_010718, RefSeq RNA:NR_002604 No chr17 7480129 7480276 7576811 7576958 +PA145007748 594838 HGNC:32763 ENSG00000221500 small nucleolar RNA, C/D box 100 SNORD100 HBII-429 Yes No Ensembl:ENSG00000221500, GeneCard:SNORD100, HGNC:HGNC:32763, NCBI Gene:594838, RefSeq DNA:NT_025741, RefSeq RNA:NR_002435 No chr6 133137941 133138016 132816802 132816877 +PA145007752 594837 HGNC:32764 ENSG00000206754 small nucleolar RNA, C/D box 101 SNORD101 U101 Yes No Ensembl:ENSG00000206754, GeneCard:SNORD101, HGNC:HGNC:32764, NCBI Gene:594837, RefSeq DNA:NT_025741, RefSeq RNA:NR_002434 No chr6 133136446 133136518 132815307 132815379 +PA34464 26771 HGNC:10099 ENSG00000207500 small nucleolar RNA, C/D box 102 SNORD102 U102 Yes No Ensembl:ENSG00000207500, GenAtlas:SNORD102, GeneCard:SNORD102, HGNC:HGNC:10099, HumanCyc Gene:HS11716, NCBI Gene:26771, RefSeq DNA:NT_024524, RefSeq RNA:NR_002574 No chr13 27829201 27829272 27255064 27255135 +PA145007756 692234 HGNC:32766 small nucleolar RNA, C/D box 103A SNORD103A U103 Yes No GeneCard:SNORD103A, HGNC:HGNC:32766, NCBI Gene:692234, RefSeq DNA:NT_032977, RefSeq RNA:NR_004054 No chr1 31408536 31408623 30935689 30935776 +PA145007757 692235 HGNC:32767 small nucleolar RNA, C/D box 103B SNORD103B U103B Yes No GeneCard:SNORD103B, HGNC:HGNC:32767, NCBI Gene:692235, RefSeq RNA:NR_033295 No chr1 31421965 31422052 30949118 30949205 +PA145007758 692227 HGNC:32768 ENSG00000199753 small nucleolar RNA, C/D box 104 SNORD104 U104 Yes No Ensembl:ENSG00000199753, GeneCard:SNORD104, HGNC:HGNC:32768, NCBI Gene:692227, RefSeq DNA:NT_010783, RefSeq RNA:NR_004380 No chr17 62223438 62223517 64146078 64146157 +PA145007759 692229 HGNC:32769 ENSG00000209645 small nucleolar RNA, C/D box 105 SNORD105 U105 Yes No Ensembl:ENSG00000209645, GeneCard:SNORD105, HGNC:HGNC:32769, NCBI Gene:692229, RefSeq DNA:NT_011295, RefSeq RNA:NR_004381 No chr19 10218327 10218411 10107651 10107735 +PA162404169 100113382 HGNC:33572 ENSG00000238531 small nucleolar RNA, C/D box 105B SNORD105B Yes No Ensembl:ENSG00000238531, GeneCard:SNORD105B, HGNC:HGNC:33572, NCBI Gene:100113382, RefSeq DNA:NT_011295, RefSeq RNA:NR_003688 No chr19 10220425 10220516 10109749 10109840 +PA145007760 91380 HGNC:32771 ENSG00000276314 small nucleolar RNA, C/D box 107 SNORD107 HBII-436 Yes No Ensembl:ENSG00000276314, GeneCard:SNORD107, HGNC:HGNC:32771, HumanCyc Gene:HS11836, NCBI Gene:91380, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_001293 No chr15 25227141 25227215 24981994 24982068 +PA145007762 338427 HGNC:32772 ENSG00000239014 small nucleolar RNA, C/D box 108 SNORD108 HBII-437 Yes No Ensembl:ENSG00000239014, GeneCard:SNORD108, HGNC:HGNC:32772, HumanCyc Gene:HS11803, NCBI Gene:338427, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_001292 No chr15 25232072 25232140 24986925 24986993 +PA145007764 338428 HGNC:32773 ENSG00000274640 small nucleolar RNA, C/D box 109A SNORD109A HBII-438a Yes No Ensembl:ENSG00000274640, GeneCard:SNORD109A, HGNC:HGNC:32773, HumanCyc Gene:HS11804, NCBI Gene:338428, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_001295 No chr15 25287121 25287187 25041974 25042040 +PA145007766 338429 HGNC:32774 ENSG00000239169 small nucleolar RNA, C/D box 109B SNORD109B HBII-438b Yes No Ensembl:ENSG00000239169, GeneCard:SNORD109B, HGNC:HGNC:32774, HumanCyc Gene:HS11805, NCBI Gene:338429, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_001289 No chr15 25523490 25523556 25278343 25278409 +PA145007808 692058 HGNC:32707 ENSG00000238317 small nucleolar RNA, C/D box 11 SNORD11 HBII-95 Yes No Ensembl:ENSG00000238317, GeneCard:SNORD11, HGNC:HGNC:32707, NCBI Gene:692058, RefSeq DNA:NT_005403, RefSeq RNA:NR_003031 No chr2 203157774 203157857 202293051 202293134 +PA145007728 692213 HGNC:32775 ENSG00000221116 small nucleolar RNA, C/D box 110 SNORD110 HBII-55 Yes No Ensembl:ENSG00000221116, GeneCard:SNORD110, HGNC:HGNC:32775, NCBI Gene:692213, RefSeq DNA:NT_011387, RefSeq RNA:NR_003078 No chr20 2634858 2634932 2654212 2654286 +PA145007729 692214 HGNC:32776 ENSG00000221066 small nucleolar RNA, C/D box 111 SNORD111 HBII-82 Yes No Ensembl:ENSG00000221066, GeneCard:SNORD111, HGNC:HGNC:32776, NCBI Gene:692214, RefSeq DNA:NT_010498, RefSeq RNA:NR_003079 No chr16 70571908 70572001 70538005 70538098 +PA162404170 100113402 HGNC:33579 ENSG00000221514 small nucleolar RNA, C/D box 111B SNORD111B hsa-mir-3647 Yes No Ensembl:ENSG00000221514, GeneCard:SNORD111B, HGNC:HGNC:33579, NCBI Gene:100113402, RefSeq DNA:NT_010498, RefSeq RNA:NR_003696 No chr16 70563402 70563502 70529499 70529599 +PA145007730 692215 HGNC:32777 ENSG00000275662 small nucleolar RNA, C/D box 112 SNORD112 14q(0) Yes No Ensembl:ENSG00000275662, GeneCard:SNORD112, HGNC:HGNC:32777, NCBI Gene:692215, RefSeq DNA:NT_026437, RefSeq RNA:NR_003080 No chr14 101364257 101364333 100897920 100897996 +PA162404171 767561 HGNC:32980 ENSG00000202191 small nucleolar RNA, C/D box 113-1 SNORD113-1 14q(I-1) Yes No Ensembl:ENSG00000202191, GeneCard:SNORD113-1, HGNC:HGNC:32980, NCBI Gene:767561, RefSeq DNA:NT_026437, RefSeq RNA:NR_003229 No chr14 101391158 101391227 100924821 100924890 +PA162404172 767562 HGNC:32981 ENSG00000212384 small nucleolar RNA, C/D box 113-2 SNORD113-2 14q(I-2) Yes No Ensembl:ENSG00000212384, GeneCard:SNORD113-2, HGNC:HGNC:32981, NCBI Gene:767562, RefSeq DNA:NT_026437, RefSeq RNA:NR_003230 No chr14 101393679 101393749 100927342 100927412 +PA162404173 767563 HGNC:32982 ENSG00000201700 small nucleolar RNA, C/D box 113-3 SNORD113-3 14q(I-3) Yes No Ensembl:ENSG00000201700, GeneCard:SNORD113-3, HGNC:HGNC:32982, NCBI Gene:767563, RefSeq DNA:NT_026437, RefSeq RNA:NR_003231 No chr14 101396256 101396326 100929919 100929989 +PA162404174 767564 HGNC:32983 ENSG00000201672 small nucleolar RNA, C/D box 113-4 SNORD113-4 14q(I-4) Yes No Ensembl:ENSG00000201672, GeneCard:SNORD113-4, HGNC:HGNC:32983, NCBI Gene:767564, RefSeq DNA:NT_026437, RefSeq RNA:NR_003232 No chr14 101402828 101402901 100936491 100936564 +PA162404175 767565 HGNC:32984 ENSG00000272474 small nucleolar RNA, C/D box 113-5 SNORD113-5 14q(I-5) Yes No Ensembl:ENSG00000272474, GeneCard:SNORD113-5, HGNC:HGNC:32984, NCBI Gene:767565, RefSeq DNA:NT_026437, RefSeq RNA:NR_003233 No chr14 101404524 101404600 100938187 100938263 +PA162404176 767566 HGNC:32985 ENSG00000200215 small nucleolar RNA, C/D box 113-6 SNORD113-6 14q(I-6) Yes No Ensembl:ENSG00000200215, GeneCard:SNORD113-6, HGNC:HGNC:32985, NCBI Gene:767566, RefSeq DNA:NT_026437, RefSeq RNA:NR_003234 No chr14 101405893 101405966 100939556 100939629 +PA162404177 767567 HGNC:32986 ENSG00000200632 small nucleolar RNA, C/D box 113-7 SNORD113-7 14q(I-7) Yes No Ensembl:ENSG00000200632, GeneCard:SNORD113-7, HGNC:HGNC:32986, NCBI Gene:767567, RefSeq DNA:NT_026437, RefSeq RNA:NR_003235 No chr14 101407463 101407538 100941126 100941201 +PA162404178 767568 HGNC:32987 ENSG00000200367 small nucleolar RNA, C/D box 113-8 SNORD113-8 14q(I-8) Yes No Ensembl:ENSG00000200367, GeneCard:SNORD113-8, HGNC:HGNC:32987, NCBI Gene:767568, RefSeq DNA:NT_026437, RefSeq RNA:NR_003236 No chr14 101409788 101409860 100943451 100943523 +PA162404179 767569 HGNC:32988 ENSG00000201950 small nucleolar RNA, C/D box 113-9 SNORD113-9 14q(I-9) Yes No Ensembl:ENSG00000201950, GeneCard:SNORD113-9, HGNC:HGNC:32988, NCBI Gene:767569, RefSeq DNA:NT_026437, RefSeq RNA:NR_003237 No chr14 101411986 101412056 100945649 100945719 +PA162404180 767577 HGNC:32989 ENSG00000199575 small nucleolar RNA, C/D box 114-1 SNORD114-1 14q(II-1) Yes No Ensembl:ENSG00000199575, GeneCard:SNORD114-1, HGNC:HGNC:32989, NCBI Gene:767577, RefSeq DNA:NT_026437, RefSeq RNA:NR_003193 No chr14 101416170 101416240 100949833 100949903 +PA162404181 767588 HGNC:32998 ENSG00000200279 small nucleolar RNA, C/D box 114-10 SNORD114-10 14q(II-10) Yes No Ensembl:ENSG00000200279, GeneCard:SNORD114-10, HGNC:HGNC:32998, NCBI Gene:767588, RefSeq DNA:NT_026437, RefSeq RNA:NR_003203 No chr14 101433389 101433459 100967052 100967122 +PA162404182 767589 HGNC:32999 ENSG00000200608 small nucleolar RNA, C/D box 114-11 SNORD114-11 14q(II-11) Yes No Ensembl:ENSG00000200608, GeneCard:SNORD114-11, HGNC:HGNC:32999, NCBI Gene:767589, RefSeq DNA:NT_026437, RefSeq RNA:NR_003204 No chr14 101434448 101434521 100968111 100968184 +PA162404183 767590 HGNC:33000 ENSG00000202270 small nucleolar RNA, C/D box 114-12 SNORD114-12 14q(II-12) Yes No Ensembl:ENSG00000202270, GeneCard:SNORD114-12, HGNC:HGNC:33000, NCBI Gene:767590, RefSeq DNA:NT_026437, RefSeq RNA:NR_003205 No chr14 101435285 101435358 100968948 100969021 +PA162404184 767591 HGNC:33001 ENSG00000201247 small nucleolar RNA, C/D box 114-13 SNORD114-13 14q(II-13) Yes No Ensembl:ENSG00000201247, GeneCard:SNORD114-13, HGNC:HGNC:33001, NCBI Gene:767591, RefSeq DNA:NT_026437, RefSeq RNA:NR_003206 No chr14 101436216 101436288 100969879 100969951 +PA162404185 767592 HGNC:33002 ENSG00000199593 small nucleolar RNA, C/D box 114-14 SNORD114-14 14q(II-14) Yes No Ensembl:ENSG00000199593, GeneCard:SNORD114-14, HGNC:HGNC:33002, NCBI Gene:767592, RefSeq DNA:NT_026437, RefSeq RNA:NR_003207 No chr14 101438440 101438513 100972103 100972176 +PA162404186 767593 HGNC:33003 ENSG00000201557 small nucleolar RNA, C/D box 114-15 SNORD114-15 14q(II-15) Yes No Ensembl:ENSG00000201557, GeneCard:SNORD114-15, HGNC:HGNC:33003, NCBI Gene:767593, RefSeq DNA:NT_026437, RefSeq RNA:NR_003208 No chr14 101439007 101439077 100972670 100972740 +PA162404187 767594 HGNC:33004 ENSG00000199914 small nucleolar RNA, C/D box 114-16 SNORD114-16 14q(II-16) Yes No Ensembl:ENSG00000199914, GeneCard:SNORD114-16, HGNC:HGNC:33004, NCBI Gene:767594, RefSeq DNA:NT_026437, RefSeq RNA:NR_003209 No chr14 101439932 101440000 100973595 100973663 +PA162404188 767595 HGNC:33005 ENSG00000201569 small nucleolar RNA, C/D box 114-17 SNORD114-17 14q(II-17) Yes No Ensembl:ENSG00000201569, GeneCard:SNORD114-17, HGNC:HGNC:33005, NCBI Gene:767595, RefSeq DNA:NT_026437, RefSeq RNA:NR_003210 No chr14 101441143 101441216 100974806 100974879 +PA162404189 767596 HGNC:33006 ENSG00000202142 small nucleolar RNA, C/D box 114-18 SNORD114-18 14q(II-18) Yes No Ensembl:ENSG00000202142, GeneCard:SNORD114-18, HGNC:HGNC:33006, NCBI Gene:767596, RefSeq DNA:NT_026437, RefSeq RNA:NR_003211 No chr14 101442162 101442232 100975825 100975895 +PA162404190 767597 HGNC:33007 ENSG00000199942 small nucleolar RNA, C/D box 114-19 SNORD114-19 14q(II-19) Yes No Ensembl:ENSG00000199942, GeneCard:SNORD114-19, HGNC:HGNC:33007, NCBI Gene:767597, RefSeq DNA:NT_026437, RefSeq RNA:NR_003212 No chr14 101442814 101442887 100976477 100976550 +PA162404191 767578 HGNC:32990 ENSG00000200823 small nucleolar RNA, C/D box 114-2 SNORD114-2 14q(II-2) Yes No Ensembl:ENSG00000200823, GeneCard:SNORD114-2, HGNC:HGNC:32990, NCBI Gene:767578, RefSeq DNA:NT_026437, RefSeq RNA:NR_003194 No chr14 101418193 101418269 100951856 100951932 +PA162404192 767598 HGNC:33008 ENSG00000202048 small nucleolar RNA, C/D box 114-20 SNORD114-20 14q(II-20) Yes No Ensembl:ENSG00000202048, GeneCard:SNORD114-20, HGNC:HGNC:33008, NCBI Gene:767598, RefSeq DNA:NT_026437, RefSeq RNA:NR_003213 No chr14 101447341 101447411 100981004 100981074 +PA162404193 767599 HGNC:33009 ENSG00000272344 small nucleolar RNA, C/D box 114-21 SNORD114-21 14q(II-21) Yes No Ensembl:ENSG00000272344, GeneCard:SNORD114-21, HGNC:HGNC:33009, NCBI Gene:767599, RefSeq DNA:NT_026437, RefSeq RNA:NR_003214 No chr14 101448312 101448382 100981975 100982045 +PA162404194 767600 HGNC:33010 ENSG00000202293 small nucleolar RNA, C/D box 114-22 SNORD114-22 14q(II-22) Yes No Ensembl:ENSG00000202293, GeneCard:SNORD114-22, HGNC:HGNC:33010, NCBI Gene:767600, RefSeq DNA:NT_026437, RefSeq RNA:NR_003215 No chr14 101449263 101449333 100982926 100982996 +PA162404195 767603 HGNC:33011 ENSG00000200406 small nucleolar RNA, C/D box 114-23 SNORD114-23 14q(II-23) Yes No Ensembl:ENSG00000200406, GeneCard:SNORD114-23, HGNC:HGNC:33011, NCBI Gene:767603, RefSeq DNA:NT_026437, RefSeq RNA:NR_003216 No chr14 101450213 101450283 100983876 100983946 +PA162404196 767604 HGNC:33012 ENSG00000201899 small nucleolar RNA, C/D box 114-24 SNORD114-24 14q(II-24) Yes No Ensembl:ENSG00000201899, GeneCard:SNORD114-24, HGNC:HGNC:33012, NCBI Gene:767604, RefSeq DNA:NT_026437, RefSeq RNA:NR_003217 No chr14 101451114 101451184 100984777 100984847 +PA162404197 767605 HGNC:33013 ENSG00000200612 small nucleolar RNA, C/D box 114-25 SNORD114-25 14q(II-25) Yes No Ensembl:ENSG00000200612, GeneCard:SNORD114-25, HGNC:HGNC:33013, NCBI Gene:767605, RefSeq DNA:NT_026437, RefSeq RNA:NR_003218 No chr14 101452394 101452464 100986057 100986127 +PA162404198 767606 HGNC:33014 ENSG00000200413 small nucleolar RNA, C/D box 114-26 SNORD114-26 14q(II-26) Yes No Ensembl:ENSG00000200413, GeneCard:SNORD114-26, HGNC:HGNC:33014, NCBI Gene:767606, RefSeq DNA:NT_026437, RefSeq RNA:NR_003219 No chr14 101453383 101453453 100987046 100987116 +PA162404199 767608 HGNC:33015 ENSG00000200636 small nucleolar RNA, C/D box 114-27 SNORD114-27 14q(II-27) Yes No Ensembl:ENSG00000200636, GeneCard:SNORD114-27, HGNC:HGNC:33015, NCBI Gene:767608, RefSeq DNA:NT_026437, RefSeq RNA:NR_003220 No chr14 101454498 101454566 100988161 100988229 +PA162404200 767609 HGNC:33016 ENSG00000200480 small nucleolar RNA, C/D box 114-28 SNORD114-28 14q(II-28) Yes No Ensembl:ENSG00000200480, GeneCard:SNORD114-28, HGNC:HGNC:33016, NCBI Gene:767609, RefSeq DNA:NT_026437, RefSeq RNA:NR_003221 No chr14 101455467 101455537 100989130 100989200 +PA162404201 767610 HGNC:33017 ENSG00000201689 small nucleolar RNA, C/D box 114-29 SNORD114-29 14q(II-29) Yes No Ensembl:ENSG00000201689, GeneCard:SNORD114-29, HGNC:HGNC:33017, NCBI Gene:767610, RefSeq DNA:NT_026437, RefSeq RNA:NR_003222 No chr14 101456428 101456496 100990091 100990159 +PA162404202 767579 HGNC:32991 ENSG00000201839 small nucleolar RNA, C/D box 114-3 SNORD114-3 14q(II-3) Yes No Ensembl:ENSG00000201839, GeneCard:SNORD114-3, HGNC:HGNC:32991, NCBI Gene:767579, RefSeq DNA:NT_026437, RefSeq RNA:NR_003195 No chr14 101419686 101419759 100953349 100953422 +PA162404203 767611 HGNC:33018 ENSG00000201318 small nucleolar RNA, C/D box 114-30 SNORD114-30 14q(II-30) Yes No Ensembl:ENSG00000201318, GeneCard:SNORD114-30, HGNC:HGNC:33018, NCBI Gene:767611, RefSeq DNA:NT_026437, RefSeq RNA:NR_003223 No chr14 101458256 101458326 100991919 100991989 +PA162404204 767612 HGNC:33019 ENSG00000200089 small nucleolar RNA, C/D box 114-31 SNORD114-31 14q(II-31) Yes No Ensembl:ENSG00000200089, GeneCard:SNORD114-31, HGNC:HGNC:33019, NCBI Gene:767612, RefSeq DNA:NT_026437, RefSeq RNA:NR_003224 No chr14 101459573 101459646 100993236 100993309 +PA162404205 767580 HGNC:32992 ENSG00000200832 small nucleolar RNA, C/D box 114-4 SNORD114-4 14q(II-4) Yes No Ensembl:ENSG00000200832, GeneCard:SNORD114-4, HGNC:HGNC:32992, NCBI Gene:767580, RefSeq DNA:NT_026437, RefSeq RNA:NR_003196 No chr14 101420681 101420784 100954344 100954447 +PA162404206 767581 HGNC:32993 ENSG00000199798 small nucleolar RNA, C/D box 114-5 SNORD114-5 14q(II-5) Yes No Ensembl:ENSG00000199798, GeneCard:SNORD114-5, HGNC:HGNC:32993, NCBI Gene:767581, RefSeq DNA:NT_026437, RefSeq RNA:NR_003197 No chr14 101421707 101421775 100955370 100955438 +PA162404207 767582 HGNC:32994 ENSG00000201263 small nucleolar RNA, C/D box 114-6 SNORD114-6 14q(II-6) Yes No Ensembl:ENSG00000201263, GeneCard:SNORD114-6, HGNC:HGNC:32994, NCBI Gene:767582, RefSeq DNA:NT_026437, RefSeq RNA:NR_003198 No chr14 101423503 101423573 100957166 100957236 +PA162404208 767583 HGNC:32995 ENSG00000199390 small nucleolar RNA, C/D box 114-7 SNORD114-7 14q(II-7) Yes No Ensembl:ENSG00000199390, GeneCard:SNORD114-7, HGNC:HGNC:32995, NCBI Gene:767583, RefSeq DNA:NT_026437, RefSeq RNA:NR_003199 No chr14 101429391 101429466 100963054 100963129 +PA162404209 767584 HGNC:32996 small nucleolar RNA, C/D box 114-8 SNORD114-8 14q(II-8) Yes No GeneCard:SNORD114-8, HGNC:HGNC:32996, NCBI Gene:767584, RefSeq DNA:NT_026437, RefSeq RNA:NR_003200 No chr14 101431118 101431188 100964781 100964851 +PA162404210 767585 HGNC:32997 ENSG00000201240 small nucleolar RNA, C/D box 114-9 SNORD114-9 14q(II-9) Yes No Ensembl:ENSG00000201240, GeneCard:SNORD114-9, HGNC:HGNC:32997, NCBI Gene:767585, RefSeq DNA:NT_026437, RefSeq RNA:NR_003201 No chr14 101432366 101432436 100966029 100966099 +PA162404211 338433 HGNC:33020 ENSG00000201831 small nucleolar RNA, C/D box 115-1 SNORD115-1 HBII-52-1 Yes No Ensembl:ENSG00000201831, GeneCard:SNORD115-1, HGNC:HGNC:33020, HumanCyc Gene:HS11807, NCBI Gene:338433, OMIM:609837, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_001291 No chr15 25415870 25415951 25170723 25170804 +PA162404215 100033447 HGNC:33029 ENSG00000201943 small nucleolar RNA, C/D box 115-10 SNORD115-10 HBII-52-10 Yes No Ensembl:ENSG00000201943, GeneCard:SNORD115-10, HGNC:HGNC:33029, NCBI Gene:100033447, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003302 No chr15 25432683 25432763 25187536 25187616 +PA162404216 100033448 HGNC:33030 ENSG00000200486 small nucleolar RNA, C/D box 115-11 SNORD115-11 HBII-52-11 Yes No Ensembl:ENSG00000200486, GeneCard:SNORD115-11, HGNC:HGNC:33030, NCBI Gene:100033448, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003303 No chr15 25434561 25434642 25189414 25189495 +PA162404217 100033449 HGNC:33031 ENSG00000199453 small nucleolar RNA, C/D box 115-12 SNORD115-12 HBII-52-12 Yes No Ensembl:ENSG00000199453, GeneCard:SNORD115-12, HGNC:HGNC:33031, NCBI Gene:100033449, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003304 No chr15 25436563 25436644 25191416 25191497 +PA162404218 100033450 HGNC:33032 ENSG00000273835 small nucleolar RNA, C/D box 115-13 SNORD115-13 HBII-52-13 Yes No Ensembl:ENSG00000273835, GeneCard:SNORD115-13, HGNC:HGNC:33032, NCBI Gene:100033450, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003305 No chr15 25438468 25438549 25193321 25193402 +PA162404219 100033451 HGNC:33033 ENSG00000199960 small nucleolar RNA, C/D box 115-14 SNORD115-14 HBII-52-14 Yes No Ensembl:ENSG00000199960, GeneCard:SNORD115-14, HGNC:HGNC:33033, NCBI Gene:100033451, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003306 No chr15 25440068 25440148 25194921 25195001 +PA162404220 100033453 HGNC:33034 ENSG00000201679 small nucleolar RNA, C/D box 115-15 SNORD115-15 HBII-52-15 Yes No Ensembl:ENSG00000201679, GeneCard:SNORD115-15, HGNC:HGNC:33034, NCBI Gene:100033453, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003307 No chr15 25442723 25442803 25197576 25197656 +PA162404221 100033454 HGNC:33035 ENSG00000200757 small nucleolar RNA, C/D box 115-16 SNORD115-16 HBII-52-16 Yes No Ensembl:ENSG00000200757, GeneCard:SNORD115-16, HGNC:HGNC:33035, NCBI Gene:100033454, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003308 No chr15 25444595 25444676 25199448 25199529 +PA162404222 100033455 HGNC:33036 ENSG00000201482 small nucleolar RNA, C/D box 115-17 SNORD115-17 HBII-52-17 Yes No Ensembl:ENSG00000201482, GeneCard:SNORD115-17, HGNC:HGNC:33036, NCBI Gene:100033455, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003309 No chr15 25446470 25446551 25201323 25201404 +PA162404223 100033456 HGNC:33037 ENSG00000200163 small nucleolar RNA, C/D box 115-18 SNORD115-18 HBII-52-18 Yes No Ensembl:ENSG00000200163, GeneCard:SNORD115-18, HGNC:HGNC:33037, NCBI Gene:100033456, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003310 No chr15 25448374 25448455 25203227 25203308 +PA162404224 100033458 HGNC:33038 ENSG00000199968 small nucleolar RNA, C/D box 115-19 SNORD115-19 HBII-52-19 Yes No Ensembl:ENSG00000199968, GeneCard:SNORD115-19, HGNC:HGNC:33038, NCBI Gene:100033458, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003311 No chr15 25449504 25449585 25204357 25204438 +PA162404225 100033437 HGNC:33021 ENSG00000199712 small nucleolar RNA, C/D box 115-2 SNORD115-2 HBII-52-2 Yes No Ensembl:ENSG00000199712, GeneCard:SNORD115-2, HGNC:HGNC:33021, NCBI Gene:100033437, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003294 No chr15 25417782 25417863 25172635 25172716 +PA162404226 100033460 HGNC:33039 ENSG00000201969 small nucleolar RNA, C/D box 115-20 SNORD115-20 HBII-52-20 Yes No Ensembl:ENSG00000201969, GeneCard:SNORD115-20, HGNC:HGNC:33039, NCBI Gene:100033460, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003312 No chr15 25451409 25451490 25206262 25206343 +PA162404227 100033603 HGNC:33040 ENSG00000199833 small nucleolar RNA, C/D box 115-21 SNORD115-21 HBII-52-21 Yes No Ensembl:ENSG00000199833, GeneCard:SNORD115-21, HGNC:HGNC:33040, NCBI Gene:100033603, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003313 No chr15 25453230 25453310 25208083 25208163 +PA162404228 100033799 HGNC:33041 ENSG00000201326 small nucleolar RNA, C/D box 115-22 SNORD115-22 HBII-52-22 Yes No Ensembl:ENSG00000201326, GeneCard:SNORD115-22, HGNC:HGNC:33041, NCBI Gene:100033799, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003314 No chr15 25455065 25455146 25209918 25209999 +PA162404229 100033800 HGNC:33042 ENSG00000201331 small nucleolar RNA, C/D box 115-23 SNORD115-23 HBII-52-23 Yes No Ensembl:ENSG00000201331, GeneCard:SNORD115-23, HGNC:HGNC:33042, NCBI Gene:100033800, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003315 No chr15 25456943 25457024 25211796 25211877 +PA162404230 100033801 HGNC:33044 ENSG00000199489 small nucleolar RNA, C/D box 115-25 SNORD115-25 HBII-52-25 Yes No Ensembl:ENSG00000199489, GeneCard:SNORD115-25, HGNC:HGNC:33044, NCBI Gene:100033801, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003342 No chr15 25460688 25460769 25215541 25215622 +PA162404231 100033802 HGNC:33045 ENSG00000275524 small nucleolar RNA, C/D box 115-26 SNORD115-26 HBII-52-26 Yes No Ensembl:ENSG00000275524, GeneCard:SNORD115-26, HGNC:HGNC:33045, NCBI Gene:100033802, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003343 No chr15 25463764 25463845 25218617 25218698 +PA162404232 100033803 HGNC:33048 ENSG00000199704 small nucleolar RNA, C/D box 115-29 SNORD115-29 HBII-52-29 Yes No Ensembl:ENSG00000199704, GeneCard:SNORD115-29, HGNC:HGNC:33048, NCBI Gene:100033803, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003344 No chr15 25468393 25468474 25223246 25223327 +PA162404233 100033440 HGNC:33022 ENSG00000199970 small nucleolar RNA, C/D box 115-3 SNORD115-3 HBII-52-3 Yes No Ensembl:ENSG00000199970, GeneCard:SNORD115-3, HGNC:HGNC:33022, NCBI Gene:100033440, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003295 No chr15 25420074 25420155 25174927 25175008 +PA162404234 100033804 HGNC:33049 ENSG00000200987 small nucleolar RNA, C/D box 115-30 SNORD115-30 HBII-52-30 Yes No Ensembl:ENSG00000200987, GeneCard:SNORD115-30, HGNC:HGNC:33049, NCBI Gene:100033804, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003345 No chr15 25470350 25470431 25225203 25225284 +PA162404235 100033805 HGNC:33050 ENSG00000202188 small nucleolar RNA, C/D box 115-31 SNORD115-31 HBII-52-31 Yes No Ensembl:ENSG00000202188, GeneCard:SNORD115-31, HGNC:HGNC:33050, NCBI Gene:100033805, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003346 No chr15 25472256 25472337 25227109 25227190 +PA162404236 100033806 HGNC:33051 ENSG00000200949 small nucleolar RNA, C/D box 115-32 SNORD115-32 HBII-52-32 Yes No Ensembl:ENSG00000200949, GeneCard:SNORD115-32, HGNC:HGNC:33051, NCBI Gene:100033806, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003347 No chr15 25474114 25474195 25228967 25229048 +PA162404237 100033807 HGNC:33052 ENSG00000200593 small nucleolar RNA, C/D box 115-33 SNORD115-33 HBII-52-33 Yes No Ensembl:ENSG00000200593, GeneCard:SNORD115-33, HGNC:HGNC:33052, NCBI Gene:100033807, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003348 No chr15 25475985 25476066 25230838 25230919 +PA162404238 100033808 HGNC:33053 ENSG00000199311 small nucleolar RNA, C/D box 115-34 SNORD115-34 HBII-52-34 Yes No Ensembl:ENSG00000199311, GeneCard:SNORD115-34, HGNC:HGNC:33053, NCBI Gene:100033808, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003349 No chr15 25477534 25477615 25232387 25232468 +PA162404239 100033809 HGNC:33054 ENSG00000201992 small nucleolar RNA, C/D box 115-35 SNORD115-35 HBII-52-35 Yes No Ensembl:ENSG00000201992, GeneCard:SNORD115-35, HGNC:HGNC:33054, NCBI Gene:100033809, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003350 No chr15 25479394 25479475 25234247 25234328 +PA162404240 100033810 HGNC:33055 ENSG00000202499 small nucleolar RNA, C/D box 115-36 SNORD115-36 HBII-52-36 Yes No Ensembl:ENSG00000202499, GeneCard:SNORD115-36, HGNC:HGNC:33055, NCBI Gene:100033810, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003351 No chr15 25481232 25481313 25236085 25236166 +PA162404241 100033811 HGNC:33056 ENSG00000200638 small nucleolar RNA, C/D box 115-37 SNORD115-37 HBII-52-37 Yes No Ensembl:ENSG00000200638, GeneCard:SNORD115-37, HGNC:HGNC:33056, NCBI Gene:100033811, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003352 No chr15 25483133 25483214 25237986 25238067 +PA162404242 100033812 HGNC:33057 ENSG00000201907 small nucleolar RNA, C/D box 115-38 SNORD115-38 HBII-52-38 Yes No Ensembl:ENSG00000201907, GeneCard:SNORD115-38, HGNC:HGNC:33057, NCBI Gene:100033812, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003353 No chr15 25484985 25485066 25239838 25239919 +PA162404243 100033813 HGNC:33058 ENSG00000200564 small nucleolar RNA, C/D box 115-39 SNORD115-39 HBII-52-39 Yes No Ensembl:ENSG00000200564, GeneCard:SNORD115-39, HGNC:HGNC:33058, NCBI Gene:100033813, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003354 No chr15 25486893 25486974 25241746 25241827 +PA162404244 100033441 HGNC:33023 ENSG00000200680 small nucleolar RNA, C/D box 115-4 SNORD115-4 HBII-52-4 Yes No Ensembl:ENSG00000200680, GeneCard:SNORD115-4, HGNC:HGNC:33023, NCBI Gene:100033441, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003296 No chr15 25421979 25422060 25176832 25176913 +PA162404245 100033814 HGNC:33059 ENSG00000272460 small nucleolar RNA, C/D box 115-40 SNORD115-40 HBII-52-40 Yes No Ensembl:ENSG00000272460, GeneCard:SNORD115-40, HGNC:HGNC:33059, NCBI Gene:100033814, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003355 No chr15 25488761 25488842 25243614 25243695 +PA162404246 100033815 HGNC:33060 ENSG00000200478 small nucleolar RNA, C/D box 115-41 SNORD115-41 HBII-52-41 Yes No Ensembl:ENSG00000200478, GeneCard:SNORD115-41, HGNC:HGNC:33060, NCBI Gene:100033815, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003356 No chr15 25490625 25490706 25245478 25245559 +PA162404247 100033816 HGNC:33061 ENSG00000201143 small nucleolar RNA, C/D box 115-42 SNORD115-42 HBII-52-42 Yes No Ensembl:ENSG00000201143, GeneCard:SNORD115-42, HGNC:HGNC:33061, NCBI Gene:100033816, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003357 No chr15 25492492 25492573 25247345 25247426 +PA162404248 100033817 HGNC:33062 ENSG00000202373 small nucleolar RNA, C/D box 115-43 SNORD115-43 HBII-52-43 Yes No Ensembl:ENSG00000202373, GeneCard:SNORD115-43, HGNC:HGNC:33062, NCBI Gene:100033817, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003358 No chr15 25494345 25494426 25249198 25249279 +PA162404249 100033818 HGNC:33063 ENSG00000202261 small nucleolar RNA, C/D box 115-44 SNORD115-44 HBII-52-44 Yes No Ensembl:ENSG00000202261, GeneCard:SNORD115-44, HGNC:HGNC:33063, NCBI Gene:100033818, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003359 No chr15 25496006 25496087 25250859 25250940 +PA162404250 100033822 HGNC:33343 ENSG00000201634 small nucleolar RNA, C/D box 115-48 SNORD115-48 HBII-52-48 Yes No Ensembl:ENSG00000201634, GeneCard:SNORD115-48, HGNC:HGNC:33343, NCBI Gene:100033822, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003362 No chr15 25514930 25515005 25269783 25269858 +PA162404251 100033442 HGNC:33024 ENSG00000200503 small nucleolar RNA, C/D box 115-5 SNORD115-5 HBII-52-5 Yes No Ensembl:ENSG00000200503, GeneCard:SNORD115-5, HGNC:HGNC:33024, NCBI Gene:100033442, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003297 No chr15 25423885 25423966 25178738 25178819 +PA162404252 100033443 HGNC:33025 ENSG00000200812 small nucleolar RNA, C/D box 115-6 SNORD115-6 HBII-52-6 Yes No Ensembl:ENSG00000200812, GeneCard:SNORD115-6, HGNC:HGNC:33025, NCBI Gene:100033443, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003298 No chr15 25425644 25425725 25180497 25180578 +PA162404253 100033444 HGNC:33026 ENSG00000278089 small nucleolar RNA, C/D box 115-7 SNORD115-7 HBII-52-7 Yes No Ensembl:ENSG00000278089, GeneCard:SNORD115-7, HGNC:HGNC:33026, NCBI Gene:100033444, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003299 No chr15 25427532 25427613 25182385 25182466 +PA162404254 100033445 HGNC:33027 ENSG00000200726 small nucleolar RNA, C/D box 115-8 SNORD115-8 HBII-52-8 Yes No Ensembl:ENSG00000200726, GeneCard:SNORD115-8, HGNC:HGNC:33027, NCBI Gene:100033445, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003300 No chr15 25429453 25429534 25184306 25184387 +PA162404255 100033446 HGNC:33028 ENSG00000199782 small nucleolar RNA, C/D box 115-9 SNORD115-9 HBII-52-9 Yes No Ensembl:ENSG00000199782, GeneCard:SNORD115-9, HGNC:HGNC:33028, NCBI Gene:100033446, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003301 No chr15 25430778 25430859 25185631 25185712 +PA162404256 100033413 HGNC:33067 ENSG00000207063 small nucleolar RNA, C/D box 116-1 SNORD116-1 HBII-85-1 Yes No Ensembl:ENSG00000207063, GeneCard:SNORD116-1, HGNC:HGNC:33067, NCBI Gene:100033413, OMIM:605436, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003316 No chr15 25296625 25296718 25051476 25051572 +PA162404257 100033422 HGNC:33076 ENSG00000200661 small nucleolar RNA, C/D box 116-10 SNORD116-10 HBII-85-10 Yes No Ensembl:ENSG00000200661, GeneCard:SNORD116-10, HGNC:HGNC:33076, NCBI Gene:100033422, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003325 No chr15 25319260 25319363 25074113 25074216 +PA162404258 100033423 HGNC:33077 ENSG00000206609 small nucleolar RNA, C/D box 116-11 SNORD116-11 HBII-85-11 Yes No Ensembl:ENSG00000206609, GeneCard:SNORD116-11, HGNC:HGNC:33077, NCBI Gene:100033423, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003326 No chr15 25321075 25321168 25075928 25076021 +PA162404259 100033424 HGNC:33078 ENSG00000207197 small nucleolar RNA, C/D box 116-12 SNORD116-12 HBII-85-12 Yes No Ensembl:ENSG00000207197, GeneCard:SNORD116-12, HGNC:HGNC:33078, NCBI Gene:100033424, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003327 No chr15 25322197 25322290 25077050 25077143 +PA162404260 100033425 HGNC:33079 ENSG00000207137 small nucleolar RNA, C/D box 116-13 SNORD116-13 HBII-85-13 Yes No Ensembl:ENSG00000207137, GeneCard:SNORD116-13, HGNC:HGNC:33079, NCBI Gene:100033425, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003328 No chr15 25324204 25324297 25079057 25079150 +PA162404261 100033426 HGNC:33080 ENSG00000206621 small nucleolar RNA, C/D box 116-14 SNORD116-14 HBII-85-14 Yes No Ensembl:ENSG00000206621, GeneCard:SNORD116-14, HGNC:HGNC:33080, NCBI Gene:100033426, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003329 No chr15 25325288 25325381 25080141 25080234 +PA162404262 100033427 HGNC:33081 ENSG00000207174 small nucleolar RNA, C/D box 116-15 SNORD116-15 HBII-85-15 Yes No Ensembl:ENSG00000207174, GeneCard:SNORD116-15, HGNC:HGNC:33081, NCBI Gene:100033427, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003330 No chr15 25326433 25326526 25081286 25081379 +PA162404263 100033428 HGNC:33082 ENSG00000207263 small nucleolar RNA, C/D box 116-16 SNORD116-16 HBII-85-16 Yes No Ensembl:ENSG00000207263, GeneCard:SNORD116-16, HGNC:HGNC:33082, NCBI Gene:100033428, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003331 No chr15 25327914 25328007 25082767 25082860 +PA162404264 100033429 HGNC:33083 ENSG00000206656 small nucleolar RNA, C/D box 116-17 SNORD116-17 HBII-85-17 Yes No Ensembl:ENSG00000206656, GeneCard:SNORD116-17, HGNC:HGNC:33083, NCBI Gene:100033429, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003332 No chr15 25328734 25328827 25083587 25083680 +PA162404265 100033430 HGNC:33084 ENSG00000206688 small nucleolar RNA, C/D box 116-18 SNORD116-18 HBII-85-18 Yes No Ensembl:ENSG00000206688, GeneCard:SNORD116-18, HGNC:HGNC:33084, NCBI Gene:100033430, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003333 No chr15 25330531 25330624 25085384 25085477 +PA162404266 727708 HGNC:33085 ENSG00000207460 small nucleolar RNA, C/D box 116-19 SNORD116-19 HBII-85-19 Yes No Ensembl:ENSG00000207460, GeneCard:SNORD116-19, HGNC:HGNC:33085, NCBI Gene:727708, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_001290 No chr15 25331673 25331765 25086526 25086619 +PA162404267 100033414 HGNC:33068 ENSG00000207001 small nucleolar RNA, C/D box 116-2 SNORD116-2 HBII-85-2 Yes No Ensembl:ENSG00000207001, GeneCard:SNORD116-2, HGNC:HGNC:33068, NCBI Gene:100033414, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003317 No chr15 25299356 25299452 25054209 25054305 +PA162404268 100033431 HGNC:33086 ENSG00000278715 small nucleolar RNA, C/D box 116-20 SNORD116-20 HBII-85-20 Yes No Ensembl:ENSG00000278715, GeneCard:SNORD116-20, HGNC:HGNC:33086, NCBI Gene:100033431, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003334 No chr15 25332808 25332901 25087661 25087754 +PA162404269 100033432 HGNC:33087 ENSG00000277785 small nucleolar RNA, C/D box 116-21 SNORD116-21 HBII-85-21 Yes No Ensembl:ENSG00000277785, GeneCard:SNORD116-21, HGNC:HGNC:33087, NCBI Gene:100033432, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003335 No chr15 25333950 25334043 25088803 25088896 +PA162404270 100033433 HGNC:33088 ENSG00000275127 small nucleolar RNA, C/D box 116-22 SNORD116-22 HBII-85-22 Yes No Ensembl:ENSG00000275127, GeneCard:SNORD116-22, HGNC:HGNC:33088, NCBI Gene:100033433, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003336 No chr15 25335069 25335162 25089922 25090015 +PA162404271 100033434 HGNC:33089 ENSG00000207375 small nucleolar RNA, C/D box 116-23 SNORD116-23 HBII-85-23 Yes No Ensembl:ENSG00000207375, GeneCard:SNORD116-23, HGNC:HGNC:33089, NCBI Gene:100033434, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003337 No chr15 25336932 25337025 25091785 25091878 +PA162404272 100033435 HGNC:33090 ENSG00000207279 small nucleolar RNA, C/D box 116-24 SNORD116-24 HBII-85-24 Yes No Ensembl:ENSG00000207279, GeneCard:SNORD116-24, HGNC:HGNC:33090, NCBI Gene:100033435, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003338 No chr15 25339183 25339276 25094036 25094129 +PA162404273 100033436 HGNC:33091 ENSG00000252326 small nucleolar RNA, C/D box 116-25 SNORD116-25 HBII-85-25 Yes No Ensembl:ENSG00000252326, GeneCard:SNORD116-25, HGNC:HGNC:33091, NCBI Gene:100033436, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003339 No chr15 25342809 25342902 25097662 25097755 +PA162404274 100033438 HGNC:33092 ENSG00000251815 small nucleolar RNA, C/D box 116-26 SNORD116-26 HBII-85-26 Yes No Ensembl:ENSG00000251815, GeneCard:SNORD116-26, HGNC:HGNC:33092, NCBI Gene:100033438, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003340 No chr15 25344645 25344742 25099498 25099595 +PA162404275 100033439 HGNC:33093 ENSG00000251896 small nucleolar RNA, C/D box 116-27 SNORD116-27 HBII-85-27 Yes No Ensembl:ENSG00000251896, GeneCard:SNORD116-27, HGNC:HGNC:33093, NCBI Gene:100033439, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003341 No chr15 25346721 25346814 25101574 25101667 +PA162404276 100033820 HGNC:33347 ENSG00000278123 small nucleolar RNA, C/D box 116-28 SNORD116-28 HBII-85-28 Yes No Ensembl:ENSG00000278123, GeneCard:SNORD116-28, HGNC:HGNC:33347, NCBI Gene:100033820, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003361 No chr15 25349788 25349880 25104641 25104733 +PA162404277 100033821 HGNC:33348 ENSG00000207245 small nucleolar RNA, C/D box 116-29 SNORD116-29 HBII-85-29 Yes No Ensembl:ENSG00000207245, GeneCard:SNORD116-29, HGNC:HGNC:33348, NCBI Gene:100033821, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003360 No chr15 25351667 25351751 25106520 25106604 +PA162404278 100033415 HGNC:33069 ENSG00000207014 small nucleolar RNA, C/D box 116-3 SNORD116-3 HBII-85-3 Yes No Ensembl:ENSG00000207014, GeneCard:SNORD116-3, HGNC:HGNC:33069, NCBI Gene:100033415, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003318 No chr15 25302006 25302102 25056859 25056955 +PA162404279 100033416 HGNC:33070 ENSG00000275529 small nucleolar RNA, C/D box 116-4 SNORD116-4 HBII-85-4 Yes No Ensembl:ENSG00000275529, GeneCard:SNORD116-4, HGNC:HGNC:33070, NCBI Gene:100033416, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003319 No chr15 25304684 25304781 25059537 25059634 +PA162404280 100033417 HGNC:33071 ENSG00000207191 small nucleolar RNA, C/D box 116-5 SNORD116-5 HBII-85-5 Yes No Ensembl:ENSG00000207191, GeneCard:SNORD116-5, HGNC:HGNC:33071, NCBI Gene:100033417, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003320 No chr15 25307479 25307575 25062332 25062428 +PA162404281 100033418 HGNC:33072 ENSG00000207442 small nucleolar RNA, C/D box 116-6 SNORD116-6 HBII-85-6 Yes No Ensembl:ENSG00000207442, GeneCard:SNORD116-6, HGNC:HGNC:33072, NCBI Gene:100033418, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003321 No chr15 25310172 25310269 25065025 25065122 +PA162404282 100033419 HGNC:33073 ENSG00000207133 small nucleolar RNA, C/D box 116-7 SNORD116-7 HBII-85-7 Yes No Ensembl:ENSG00000207133, GeneCard:SNORD116-7, HGNC:HGNC:33073, NCBI Gene:100033419, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003322 No chr15 25312934 25313030 25067787 25067883 +PA162404283 100033420 HGNC:33074 ENSG00000207093 small nucleolar RNA, C/D box 116-8 SNORD116-8 HBII-85-8 Yes No Ensembl:ENSG00000207093, GeneCard:SNORD116-8, HGNC:HGNC:33074, NCBI Gene:100033420, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003323 No chr15 25315578 25315674 25070431 25070527 +PA162404284 100033421 HGNC:33075 ENSG00000206727 small nucleolar RNA, C/D box 116-9 SNORD116-9 HBII-85-9 Yes No Ensembl:ENSG00000206727, GeneCard:SNORD116-9, HGNC:HGNC:33075, NCBI Gene:100033421, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_003324 No chr15 25318253 25318349 25073106 25073202 +PA145007735 692233 HGNC:32742 ENSG00000201785 small nucleolar RNA, C/D box 117 SNORD117 U83 Yes No Ensembl:ENSG00000201785, GeneCard:SNORD117, HGNC:HGNC:32742, NCBI Gene:692233, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_003140 No chr6 31504151 31504226 31536374 31536449 +PA145148066 727676 HGNC:32952 ENSG00000200463 small nucleolar RNA, C/D box 118 SNORD118 U8 Yes No Ensembl:ENSG00000200463, GeneCard:SNORD118, HGNC:HGNC:32952, NCBI Gene:727676, RefSeq RNA:NR_033294 No chr17 8076771 8076906 8173453 8173588 +PA162404285 100113378 HGNC:33558 small nucleolar RNA, C/D box 119 SNORD119 Yes No GeneCard:SNORD119, HGNC:HGNC:33558, NCBI Gene:100113378, RefSeq DNA:NT_011387, RefSeq RNA:NR_003684 No chr20 2443598 2443693 2462952 2463047 +PA162404286 100113392 HGNC:33571 ENSG00000271852 small nucleolar RNA, C/D box 11B SNORD11B Yes No Ensembl:ENSG00000271852, GeneCard:SNORD11B, HGNC:HGNC:33571, NCBI Gene:100113392, RefSeq DNA:NT_005403, RefSeq RNA:NR_003694 No chr2 203156040 203156151 202291317 202291428 +PA145007809 692057 HGNC:32708 ENSG00000212304 small nucleolar RNA, C/D box 12 SNORD12 HBII-99, hsa-mir-1259 Yes No Ensembl:ENSG00000212304, GeneCard:SNORD12, HGNC:HGNC:32708, NCBI Gene:692057, RefSeq DNA:NT_011362, RefSeq RNA:NR_003030 No chr20 47897220 47897309 49280683 49280772 +PA162404287 100113379 HGNC:33560 ENSG00000238886 small nucleolar RNA, C/D box 121A SNORD121A Yes No Ensembl:ENSG00000238886, GeneCard:SNORD121A, HGNC:HGNC:33560, NCBI Gene:100113379, RefSeq DNA:NT_008413, RefSeq RNA:NR_003685 No chr9 33952762 33952852 33952764 33952854 +PA162404288 100113385 HGNC:33569 ENSG00000238300 small nucleolar RNA, C/D box 121B SNORD121B Yes No Ensembl:ENSG00000238300, GeneCard:SNORD121B, HGNC:HGNC:33569, NCBI Gene:100113385, RefSeq DNA:NT_008413, RefSeq RNA:NR_003690 No chr9 +PA162404289 100113384 HGNC:33562 ENSG00000239112 small nucleolar RNA, C/D box 123 SNORD123 Yes No Ensembl:ENSG00000239112, GeneCard:SNORD123, HGNC:HGNC:33562, NCBI Gene:100113384, RefSeq DNA:NT_006576, RefSeq RNA:NR_003689 No chr5 9548939 9549026 9548827 9548914 +PA162404290 100113390 HGNC:33563 ENSG00000238793 small nucleolar RNA, C/D box 124 SNORD124 Yes No Ensembl:ENSG00000238793, GeneCard:SNORD124, HGNC:HGNC:33563, NCBI Gene:100113390, RefSeq DNA:NT_010783, RefSeq RNA:NR_003692 No chr17 +PA162404291 100113380 HGNC:33564 ENSG00000239127 small nucleolar RNA, C/D box 125 SNORD125 Yes No Ensembl:ENSG00000239127, GeneCard:SNORD125, HGNC:HGNC:33564, NCBI Gene:100113380, RefSeq DNA:NT_011520, RefSeq RNA:NR_003686 No chr22 29729152 29729247 29333163 29333258 +PA162404292 100113391 HGNC:33565 ENSG00000238344 small nucleolar RNA, C/D box 126 SNORD126 hsa-mir-1201 Yes No Ensembl:ENSG00000238344, GeneCard:SNORD126, HGNC:HGNC:33565, NCBI Gene:100113391, RefSeq DNA:NT_026437, RefSeq RNA:NR_003693 No chr14 20794600 20794698 20326441 20326539 +PA162404293 100113389 HGNC:33555 ENSG00000239043 small nucleolar RNA, C/D box 127 SNORD127 Yes No Ensembl:ENSG00000239043, GeneCard:SNORD127, HGNC:HGNC:33555, NCBI Gene:100113389, RefSeq DNA:NT_026437, RefSeq RNA:NR_003691 No chr14 45580078 45580178 45110875 45110975 +PA162404294 100113393 HGNC:33573 ENSG00000222365 small nucleolar RNA, C/D box 12B SNORD12B Yes No Ensembl:ENSG00000222365, GeneCard:SNORD12B, HGNC:HGNC:33573, NCBI Gene:100113393, RefSeq DNA:NT_011362, RefSeq RNA:NR_003695 No chr20 47896850 47896952 49280313 49280415 +PA34470 26765 HGNC:10105 ENSG00000209042 small nucleolar RNA, C/D box 12C SNORD12C U106 Yes No Ensembl:ENSG00000209042, GenAtlas:SNORD106, GeneCard:SNORD106, GeneCard:SNORD12C, HGNC:HGNC:10105, HumanCyc Gene:HS11710, NCBI Gene:26765, RefSeq DNA:NT_011362, RefSeq RNA:NR_002433 No chr20 47895482 47895560 49278945 49279023 +PA145007810 692084 HGNC:32711 ENSG00000239039 small nucleolar RNA, C/D box 13 SNORD13 RNU13, U13 Yes No Ensembl:ENSG00000239039, GeneCard:SNORD13, HGNC:HGNC:32711, NCBI Gene:692084, RefSeq DNA:NT_167187, RefSeq RNA:NR_003041 No chr8 33370993 33371096 33513475 33513578 +PA34475 6076 HGNC:10110 ENSG00000238498 small nucleolar RNA, C/D box 13 pseudogene 1 SNORD13P1 U13, U13.32A Yes No Ensembl:ENSG00000238498, GenAtlas:RNU13P1, GeneCard:SNORD13P1, HGNC:HGNC:10110, NCBI Gene:6076, RefSeq DNA:NG_008259 No chr22 +PA34476 6077 HGNC:10111 small nucleolar RNA, C/D box 13 pseudogene 2 SNORD13P2 U13, U13.12A Yes No GenAtlas:RNU13P2, GeneCard:SNORD13P2, HGNC:HGNC:10111, NCBI Gene:6077, RefSeq DNA:NG_008260, RefSeq DNA:NT_007819 No chr7 4729060 4729264 4689429 4689633 +PA34477 6078 HGNC:10112 ENSG00000239128 small nucleolar RNA, C/D box 13 pseudogene 3 SNORD13P3 U13, U13.4B Yes No Ensembl:ENSG00000239128, GenAtlas:RNU13P3, GeneCard:SNORD13P3, HGNC:HGNC:10112, NCBI Gene:6078, RefSeq DNA:NG_008261, RefSeq DNA:NT_022517 No chr3 47292015 47292116 47250525 47250626 +PA34478 26822 HGNC:10113 ENSG00000272034 small nucleolar RNA, C/D box 14A SNORD14A RNU14A, U14 Yes No Ensembl:ENSG00000272034, GenAtlas:SNORD14A, GeneCard:SNORD14A, HGNC:HGNC:10113, HumanCyc Gene:HS11767, NCBI Gene:26822, RefSeq DNA:NT_009237, RefSeq RNA:NR_000022 No chr11 17096200 17096291 17074653 17074744 +PA134978083 85388 HGNC:31803 ENSG00000201403 small nucleolar RNA, C/D box 14B SNORD14B U14, U14B Yes No Ensembl:ENSG00000201403, GeneCard:SNORD14B, HGNC:HGNC:31803, HumanCyc Gene:HS11830, NCBI Gene:85388, RefSeq DNA:NT_009237, RefSeq RNA:NR_001452 No chr11 17097325 17097415 17075778 17075868 +PA165543684 85389 HGNC:30352 ENSG00000202252 small nucleolar RNA, C/D box 14C SNORD14C Yes No Ensembl:ENSG00000202252, GeneCard:SNORD14C, HGNC:HGNC:30352, HumanCyc Gene:HS11831, NCBI Gene:85389, RefSeq DNA:NT_033899, RefSeq RNA:NR_001453 No chr11 122930043 122930130 123059335 123059422 +PA165543685 85390 HGNC:30353 ENSG00000207118 small nucleolar RNA, C/D box 14D SNORD14D Yes No Ensembl:ENSG00000207118, GeneCard:SNORD14D, HGNC:HGNC:30353, HumanCyc Gene:HS11832, NCBI Gene:85390, RefSeq DNA:NT_033899, RefSeq RNA:NR_001454 No chr11 122929617 122929703 123058909 123058995 +PA165543686 85391 HGNC:30354 ENSG00000200879 small nucleolar RNA, C/D box 14E SNORD14E Yes No Ensembl:ENSG00000200879, GeneCard:SNORD14E, HGNC:HGNC:30354, HumanCyc Gene:HS11833, NCBI Gene:85391, RefSeq DNA:NT_033899, RefSeq RNA:NR_003125 No chr11 122928785 122928864 123058077 123058156 +PA34479 6079 HGNC:10114 ENSG00000206941 small nucleolar RNA, C/D box 15A SNORD15A U15A Yes No Ensembl:ENSG00000206941, GenAtlas:SNORD15A, GeneCard:SNORD15A, HGNC:HGNC:10114, HumanCyc Gene:HS11815, NCBI Gene:6079, OMIM:600455, RefSeq DNA:NT_167190, RefSeq RNA:NR_000005 No chr11 75111435 75111582 75400391 75400538 +PA34480 114599 HGNC:16649 ENSG00000207445 small nucleolar RNA, C/D box 15B SNORD15B U15B Yes No Ensembl:ENSG00000207445, GenAtlas:SNORD15B, GeneCard:SNORD15B, HGNC:HGNC:16649, HumanCyc Gene:HS11702, NCBI Gene:114599, RefSeq DNA:NT_167190, RefSeq RNA:NR_000025 No chr11 75115465 75115610 75404421 75404566 +PA145007811 595097 HGNC:32712 ENSG00000199673 small nucleolar RNA, C/D box 16 SNORD16 U16 Yes No Ensembl:ENSG00000199673, GeneCard:SNORD16, HGNC:HGNC:32712, NCBI Gene:595097, RefSeq DNA:NT_010194, RefSeq RNA:NR_002440 No chr15 66795149 66795248 66502811 66502910 +PA145007815 692086 HGNC:32713 ENSG00000212232 small nucleolar RNA, C/D box 17 SNORD17 HBI-43 Yes No Ensembl:ENSG00000212232, GeneCard:SNORD17, HGNC:HGNC:32713, NCBI Gene:692086, RefSeq DNA:NT_011387, RefSeq RNA:NR_003045 No chr20 17943353 17943589 17962710 17962946 +PA145007816 595098 HGNC:32714 ENSG00000200623 small nucleolar RNA, C/D box 18A SNORD18A U18A Yes No Ensembl:ENSG00000200623, GeneCard:SNORD18A, HGNC:HGNC:32714, NCBI Gene:595098, RefSeq DNA:NT_010194, RefSeq RNA:NR_002441 No chr15 66795583 66795652 66503245 66503314 +PA145007820 595099 HGNC:32715 ENSG00000202529 small nucleolar RNA, C/D box 18B SNORD18B U18B Yes No Ensembl:ENSG00000202529, GeneCard:SNORD18B, HGNC:HGNC:32715, NCBI Gene:595099, RefSeq DNA:NT_010194, RefSeq RNA:NR_002442 No chr15 66794360 66794429 66502022 66502091 +PA145007824 595100 HGNC:32716 ENSG00000199574 small nucleolar RNA, C/D box 18C SNORD18C U18C Yes No Ensembl:ENSG00000199574, GeneCard:SNORD18C, HGNC:HGNC:32716, NCBI Gene:595100, RefSeq DNA:NT_010194, RefSeq RNA:NR_002443 No chr15 66793590 66793656 66501252 66501318 +PA145007801 692089 HGNC:32717 ENSG00000212493 small nucleolar RNA, C/D box 19 SNORD19 HBII-108 Yes No Ensembl:ENSG00000212493, GeneCard:SNORD19, HGNC:HGNC:32717, NCBI Gene:692089, RefSeq DNA:NT_022517, RefSeq RNA:NR_003047 No chr3 52723256 52723331 52689240 52689315 +PA162404296 100113381 HGNC:33570 ENSG00000238862 small nucleolar RNA, C/D box 19B SNORD19B Yes No Ensembl:ENSG00000238862, GeneCard:SNORD19B, HGNC:HGNC:33570, NCBI Gene:100113381, RefSeq DNA:NT_022517, RefSeq RNA:NR_003687 No chr3 52724754 52724846 52690738 52690830 +PA144596284 677848 HGNC:32556 ENSG00000278261 small nucleolar RNA, C/D box 1A SNORD1A R38A, snR38A Yes No Ensembl:ENSG00000278261, GeneCard:SNORD1A, HGNC:HGNC:32556, NCBI Gene:677848, RefSeq DNA:NT_010783, RefSeq RNA:NR_004395 No chr17 74557715 74557788 76561633 76561706 +PA144596285 677849 HGNC:32676 ENSG00000199961 small nucleolar RNA, C/D box 1B SNORD1B R38B, snR38B Yes No Ensembl:ENSG00000199961, GeneCard:SNORD1B, HGNC:HGNC:32676, NCBI Gene:677849, RefSeq DNA:NT_010783, RefSeq RNA:NR_004396 No chr17 74557190 74557275 76561108 76561193 +PA144596286 677850 HGNC:32677 ENSG00000274091 small nucleolar RNA, C/D box 1C SNORD1C R38C, snR38C Yes No Ensembl:ENSG00000274091, GeneCard:SNORD1C, HGNC:HGNC:32677, NCBI Gene:677850, RefSeq DNA:NT_010783, RefSeq RNA:NR_004397 No chr17 74554874 74554951 76558792 76558869 +PA144596287 619567 HGNC:32678 ENSG00000238942 small nucleolar RNA, C/D box 2 SNORD2 R39B, snR39B Yes No Ensembl:ENSG00000238942, GeneCard:SNORD2, HGNC:HGNC:32678, NCBI Gene:619567, RefSeq DNA:NT_005612, RefSeq RNA:NR_002587 No chr3 186502585 186502654 186784796 186784865 +PA34509 6082 HGNC:10143 ENSG00000207280 small nucleolar RNA, C/D box 20 SNORD20 U20 Yes No Ensembl:ENSG00000207280, GenAtlas:SNORD20, GeneCard:SNORD20, HGNC:HGNC:10143, HumanCyc Gene:HS11818, NCBI Gene:6082, OMIM:604012, RefSeq DNA:NT_005403, RefSeq RNA:NR_002908 No chr2 232321155 232321234 231456444 231456523 +PA34510 6083 HGNC:10144 ENSG00000206680 small nucleolar RNA, C/D box 21 SNORD21 U21 Yes No Ensembl:ENSG00000206680, GenAtlas:SNORD21, GeneCard:SNORD21, HGNC:HGNC:10144, HumanCyc Gene:HS11819, NCBI Gene:6083, OMIM:603635, RefSeq DNA:NT_032977, RefSeq RNA:NR_000006 No chr1 93302846 93302940 92837289 92837383 +PA34511 9304 HGNC:10145 ENSG00000277194 small nucleolar RNA, C/D box 22 SNORD22 U22 Yes No Comparative Toxicogenomics Database:9304, Ensembl:ENSG00000277194, GenAtlas:SNORD22, GeneCard:SNORD22, HGNC:HGNC:10145, HumanCyc Gene:HS11844, NCBI Gene:9304, OMIM:603223, RefSeq DNA:NT_167190, RefSeq RNA:NR_000008 No chr11 62620382 62620507 62852910 62853035 +PA145007799 692091 HGNC:32718 ENSG00000221803 small nucleolar RNA, C/D box 23 SNORD23 HBII-115 Yes No Ensembl:ENSG00000221803, GeneCard:SNORD23, HGNC:HGNC:32718, NCBI Gene:692091, RefSeq DNA:NT_011109, RefSeq RNA:NR_003048 No chr19 48259110 48259219 47755853 47755962 +PA34512 26820 HGNC:10146 ENSG00000206611 small nucleolar RNA, C/D box 24 SNORD24 U24 Yes No Ensembl:ENSG00000206611, GenAtlas:SNORD24, GeneCard:SNORD24, HGNC:HGNC:10146, HumanCyc Gene:HS11765, NCBI Gene:26820, RefSeq DNA:NG_000837, RefSeq DNA:NT_035014, RefSeq RNA:NR_002447 No chr9 136216251 136216325 133349396 133349470 +PA34513 9303 HGNC:10147 ENSG00000275043 small nucleolar RNA, C/D box 25 SNORD25 U25 Yes No Ensembl:ENSG00000275043, GenAtlas:SNORD25, GeneCard:SNORD25, HGNC:HGNC:10147, HumanCyc Gene:HS11843, NCBI Gene:9303, OMIM:603224, RefSeq DNA:NT_167190, RefSeq RNA:NR_002565 No chr11 62623037 62623103 62855565 62855631 +PA34514 9302 HGNC:10148 ENSG00000276788 small nucleolar RNA, C/D box 26 SNORD26 U26 Yes No Ensembl:ENSG00000276788, GenAtlas:SNORD26, GeneCard:SNORD26, HGNC:HGNC:10148, HumanCyc Gene:HS11842, NCBI Gene:9302, OMIM:603225, RefSeq DNA:NT_167190, RefSeq RNA:NR_002564 No chr11 62622764 62622838 62855292 62855366 +PA34515 9301 HGNC:10149 ENSG00000252128 small nucleolar RNA, C/D box 27 SNORD27 U27 Yes No Ensembl:ENSG00000252128, GenAtlas:SNORD27, GeneCard:SNORD27, HGNC:HGNC:10149, HumanCyc Gene:HS11841, NCBI Gene:9301, OMIM:603226, RefSeq DNA:NT_167190, RefSeq RNA:NR_002563 No chr11 62622484 62622555 62855012 62855083 +PA34516 9300 HGNC:10150 ENSG00000274544 small nucleolar RNA, C/D box 28 SNORD28 U28 Yes No Ensembl:ENSG00000274544, GenAtlas:SNORD28, GeneCard:SNORD28, HGNC:HGNC:10150, HumanCyc Gene:HS11840, NCBI Gene:9300, OMIM:603227, RefSeq DNA:NT_167190, RefSeq RNA:NR_002562 No chr11 62622093 62622167 62854621 62854695 +PA34517 9297 HGNC:10151 ENSG00000223004 small nucleolar RNA, C/D box 29 SNORD29 U29 Yes No Ensembl:ENSG00000223004, GenAtlas:SNORD29, GeneCard:SNORD29, HGNC:HGNC:10151, HumanCyc Gene:HS11837, NCBI Gene:9297, OMIM:603228, RefSeq DNA:NT_167190, RefSeq RNA:NR_002559 No chr11 62621376 62621440 62853904 62853968 +PA34523 9299 HGNC:10157 ENSG00000212611 small nucleolar RNA, C/D box 30 SNORD30 U30 Yes No Ensembl:ENSG00000212611, GenAtlas:SNORD30, GeneCard:SNORD30, HGNC:HGNC:10157, HumanCyc Gene:HS11839, NCBI Gene:9299, OMIM:603229, RefSeq DNA:NT_167190, RefSeq RNA:NR_002561 No chr11 62621135 62621204 62853663 62853732 +PA34524 9298 HGNC:10158 small nucleolar RNA, C/D box 31 SNORD31 U31 Yes No GenAtlas:SNORD31, GeneCard:SNORD31, HGNC:HGNC:10158, HumanCyc Gene:HS11838, NCBI Gene:9298, OMIM:603230, RefSeq DNA:NT_167190, RefSeq RNA:NR_002560 No chr11 62620798 62620865 62853326 62853393 +PA34525 26819 HGNC:10159 ENSG00000201675 small nucleolar RNA, C/D box 32A SNORD32A U32, U32A Yes No Ensembl:ENSG00000201675, GenAtlas:SNORD32A, GeneCard:SNORD32A, HGNC:HGNC:10159, HumanCyc Gene:HS11764, NCBI Gene:26819, RefSeq DNA:NT_011109, RefSeq RNA:NR_000021 No chr19 49993223 49993304 49489966 49490047 +PA145007800 692092 HGNC:32719 ENSG00000201330 small nucleolar RNA, C/D box 32B SNORD32B U32B Yes No Ensembl:ENSG00000201330, GeneCard:SNORD32B, HGNC:HGNC:32719, NCBI Gene:692092, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq RNA:NR_003049 No chr6 29550029 29550105 29582252 29582328 +PA34526 26818 HGNC:10160 ENSG00000252022 small nucleolar RNA, C/D box 33 SNORD33 U33 Yes No Ensembl:ENSG00000252022, GenAtlas:SNORD33, GeneCard:SNORD33, HGNC:HGNC:10160, HumanCyc Gene:HS11763, NCBI Gene:26818, RefSeq DNA:NT_011109, RefSeq RNA:NR_000020 No chr19 49993874 49993956 49490617 49490699 +PA34527 26817 HGNC:10161 ENSG00000202503 small nucleolar RNA, C/D box 34 SNORD34 U34 Yes No Ensembl:ENSG00000202503, GenAtlas:SNORD34, GeneCard:SNORD34, HGNC:HGNC:10161, HumanCyc Gene:HS11762, NCBI Gene:26817, RefSeq DNA:NT_011109, RefSeq RNA:NR_000019 No chr19 49994164 49994229 49490907 49490972 +PA34528 26816 HGNC:10162 ENSG00000200259 small nucleolar RNA, C/D box 35A SNORD35A RNU35A, U35 Yes No Ensembl:ENSG00000200259, GenAtlas:SNORD35A, GeneCard:SNORD35A, HGNC:HGNC:10162, HumanCyc Gene:HS11761, NCBI Gene:26816, RefSeq DNA:NT_011109, RefSeq RNA:NR_000018 No chr19 49994432 49994517 49491175 49491260 +PA134887897 84546 HGNC:17365 ENSG00000200530 small nucleolar RNA, C/D box 35B SNORD35B U35B Yes No Ensembl:ENSG00000200530, GeneCard:SNORD35B, HGNC:HGNC:17365, HumanCyc Gene:HS11829, NCBI Gene:84546, RefSeq DNA:NT_011109, RefSeq RNA:NR_001285 No chr19 50000976 50001063 49497719 49497806 +PA34529 26815 HGNC:10163 ENSG00000199744 small nucleolar RNA, C/D box 36A SNORD36A U36a Yes No Ensembl:ENSG00000199744, GenAtlas:SNORD36A, GeneCard:SNORD36A, HGNC:HGNC:10163, HumanCyc Gene:HS11760, NCBI Gene:26815, RefSeq DNA:NG_000837, RefSeq DNA:NT_035014, RefSeq RNA:NR_002448 No chr9 136217311 136217382 133350456 133350527 +PA34530 26814 HGNC:10164 ENSG00000200831 small nucleolar RNA, C/D box 36B SNORD36B U36b Yes No Ensembl:ENSG00000200831, GenAtlas:SNORD36B, GeneCard:SNORD36B, HGNC:HGNC:10164, HumanCyc Gene:HS11759, NCBI Gene:26814, RefSeq DNA:NG_000837, RefSeq DNA:NT_035014, RefSeq RNA:NR_000017 No chr9 136216949 136217019 133350094 133350164 +PA34531 26813 HGNC:10165 ENSG00000252542 small nucleolar RNA, C/D box 36C SNORD36C U36c Yes No Ensembl:ENSG00000252542, GenAtlas:SNORD36C, GeneCard:SNORD36C, HGNC:HGNC:10165, HumanCyc Gene:HS11758, NCBI Gene:26813, RefSeq DNA:NG_000837, RefSeq DNA:NT_035014, RefSeq RNA:NR_000016 No chr9 136217701 136217768 133350846 133350913 +PA34532 26812 HGNC:10166 ENSG00000206775 small nucleolar RNA, C/D box 37 SNORD37 U37 Yes No Ensembl:ENSG00000206775, GenAtlas:SNORD37, GeneCard:SNORD37, HGNC:HGNC:10166, HumanCyc Gene:HS11757, NCBI Gene:26812, RefSeq DNA:NT_011255, RefSeq RNA:NR_002602 No chr19 3982505 3982570 3982507 3982572 +PA134917279 94162 HGNC:30355 ENSG00000202031 small nucleolar RNA, C/D box 38A SNORD38A U38A Yes No Ensembl:ENSG00000202031, GeneCard:SNORD38A, HGNC:HGNC:30355, HumanCyc Gene:HS11848, NCBI Gene:94162, RefSeq DNA:NT_032977, RefSeq RNA:NR_001456 No chr1 45243514 45243584 44777842 44777912 +PA134884302 94163 HGNC:30356 ENSG00000207421 small nucleolar RNA, C/D box 38B SNORD38B U38B Yes No Ensembl:ENSG00000207421, GeneCard:SNORD38B, HGNC:HGNC:30356, HumanCyc Gene:HS11849, NCBI Gene:94163, RefSeq DNA:NT_032977, RefSeq RNA:NR_001457 No chr1 45244062 45244130 44778390 44778458 +PA162404297 780851 HGNC:33189 ENSG00000263934 small nucleolar RNA, C/D box 3A SNORD3A U3 Yes No Ensembl:ENSG00000263934, GeneCard:SNORD3A, HGNC:HGNC:33189, NCBI Gene:780851, OMIM:180710, RefSeq DNA:NT_010718, RefSeq RNA:NR_006880 No chr17 19091329 19091545 19188016 19188232 +PA162404298 26851 HGNC:10168 ENSG00000265185 small nucleolar RNA, C/D box 3B-1 SNORD3B-1 U3a, U3b1, U3b2 Yes No Ensembl:ENSG00000265185, GeneCard:SNORD3B-1, HGNC:HGNC:10168, HumanCyc Gene:HS11788, NCBI Gene:26851, RefSeq DNA:NT_010718, RefSeq RNA:NR_003271 No chr17 18965225 18965441 19061912 19062128 +PA162404299 780852 HGNC:33190 ENSG00000262074 small nucleolar RNA, C/D box 3B-2 SNORD3B-2 U3-2B, U3b2 Yes No Ensembl:ENSG00000262074, GeneCard:SNORD3B-2, HGNC:HGNC:33190, NCBI Gene:780852, RefSeq DNA:NT_010718, RefSeq RNA:NR_003924 No chr17 18967233 18967449 19063920 19064136 +PA162404300 780853 HGNC:33191 ENSG00000264940 small nucleolar RNA, C/D box 3C SNORD3C U3-3 Yes No Ensembl:ENSG00000264940, GeneCard:SNORD3C, HGNC:HGNC:33191, NCBI Gene:780853, RefSeq DNA:NT_010718, RefSeq RNA:NR_006881 No chr17 19093342 19093558 19190029 19190245 +PA162404301 780854 HGNC:33192 ENSG00000277947 small nucleolar RNA, C/D box 3D SNORD3D U3-4 Yes No Ensembl:ENSG00000277947, GeneCard:SNORD3D, HGNC:HGNC:33192, NCBI Gene:780854, RefSeq DNA:NT_010718, RefSeq RNA:NR_006882 No chr17 19015733 19015949 19112420 19112636 +PA34546 26810 HGNC:10179 ENSG00000209702 small nucleolar RNA, C/D box 41 SNORD41 U41 Yes No Ensembl:ENSG00000209702, GenAtlas:SNORD41, GeneCard:SNORD41, HGNC:HGNC:10179, HumanCyc Gene:HS11755, NCBI Gene:26810, RefSeq DNA:NT_011295, RefSeq RNA:NR_002751 No chr19 12817263 12817332 12706449 12706518 +PA34547 26809 HGNC:10180 ENSG00000238649 small nucleolar RNA, C/D box 42A SNORD42A U42 Yes No Ensembl:ENSG00000238649, GenAtlas:SNORD42A, GeneCard:SNORD42A, HGNC:HGNC:10180, HumanCyc Gene:HS11754, NCBI Gene:26809, RefSeq DNA:NT_010799, RefSeq RNA:NR_000014 No chr17 27050448 27050509 28723430 28723491 +PA34548 26808 HGNC:10181 ENSG00000238423 small nucleolar RNA, C/D box 42B SNORD42B U42B Yes No Ensembl:ENSG00000238423, GenAtlas:SNORD42B, GeneCard:SNORD42B, HGNC:HGNC:10181, HumanCyc Gene:HS11753, NCBI Gene:26808, RefSeq DNA:NT_010799, RefSeq RNA:NR_000013 No chr17 27047568 27047634 28720550 28720616 +PA34549 26807 HGNC:10182 ENSG00000263764 small nucleolar RNA, C/D box 43 SNORD43 U43 Yes No Ensembl:ENSG00000263764, GenAtlas:SNORD43, GeneCard:SNORD43, HGNC:HGNC:10182, HumanCyc Gene:HS11752, NCBI Gene:26807, OMIM:611068, RefSeq DNA:NT_011520, RefSeq RNA:NR_002439 No chr22 39715057 39715118 39319052 39319113 +PA34550 26806 HGNC:10183 small nucleolar RNA, C/D box 44 SNORD44 U44 Yes No GenAtlas:SNORD44, GeneCard:SNORD44, HGNC:HGNC:10183, HumanCyc Gene:HS11751, NCBI Gene:26806, RefSeq DNA:NT_004487, RefSeq RNA:NR_002750 No chr1 173835106 173835166 173865968 173866028 +PA34551 26805 HGNC:10184 ENSG00000207241 small nucleolar RNA, C/D box 45A SNORD45A U45a Yes No Ensembl:ENSG00000207241, GenAtlas:SNORD45A, GeneCard:SNORD45A, HGNC:HGNC:10184, HumanCyc Gene:HS11750, NCBI Gene:26805, RefSeq DNA:NT_032977, RefSeq RNA:NR_002749 No chr1 76253574 76253657 75787889 75787972 +PA34552 26804 HGNC:10185 ENSG00000201487 small nucleolar RNA, C/D box 45B SNORD45B U45b Yes No Ensembl:ENSG00000201487, GenAtlas:SNORD45B, GeneCard:SNORD45B, HGNC:HGNC:10185, HumanCyc Gene:HS11749, NCBI Gene:26804, RefSeq DNA:NT_032977, RefSeq RNA:NR_002748 No chr1 76255162 76255232 75789477 75789547 +PA145007796 692085 HGNC:32720 ENSG00000206620 small nucleolar RNA, C/D box 45C SNORD45C U45C Yes No Ensembl:ENSG00000206620, GeneCard:SNORD45C, HGNC:HGNC:32720, NCBI Gene:692085, RefSeq DNA:NT_032977, RefSeq RNA:NR_003042 No chr1 76252757 76252834 75787072 75787149 +PA34553 94161 HGNC:10186 ENSG00000200913 small nucleolar RNA, C/D box 46 SNORD46 U40, U46 Yes No Ensembl:ENSG00000200913, GenAtlas:SNORD46, GeneCard:SNORD46, HGNC:HGNC:10186, HumanCyc Gene:HS11847, NCBI Gene:94161, RefSeq DNA:NT_032977, RefSeq RNA:NR_000024 No chr1 45242164 45242261 44776492 44776589 +PA34554 26802 HGNC:10187 small nucleolar RNA, C/D box 47 SNORD47 U47 Yes No GenAtlas:SNORD47, GeneCard:SNORD47, HGNC:HGNC:10187, HumanCyc Gene:HS11747, NCBI Gene:26802, RefSeq DNA:NT_004487, RefSeq RNA:NR_002746 No chr1 173833507 173833583 173864369 173864445 +PA34555 26801 HGNC:10188 ENSG00000201823 small nucleolar RNA, C/D box 48 SNORD48 U48 Yes No Ensembl:ENSG00000201823, GenAtlas:SNORD48, GeneCard:SNORD48, HGNC:HGNC:10188, HumanCyc Gene:HS11746, NCBI Gene:26801, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167248, RefSeq RNA:NR_002745 No chr6 31803040 31803103 31835263 31835326 +PA34556 26800 HGNC:10189 ENSG00000277370 small nucleolar RNA, C/D box 49A SNORD49A U49, U49A Yes No Ensembl:ENSG00000277370, GenAtlas:SNORD49A, GeneCard:SNORD49A, HGNC:HGNC:10189, HumanCyc Gene:HS11745, NCBI Gene:26800, RefSeq DNA:NT_010718, RefSeq RNA:NR_002744 No chr17 16343350 16343420 16440036 16440106 +PA145007797 692087 HGNC:32721 ENSG00000277108 small nucleolar RNA, C/D box 49B SNORD49B U49B Yes No Ensembl:ENSG00000277108, GeneCard:SNORD49B, HGNC:HGNC:32721, NCBI Gene:692087, RefSeq DNA:NT_010718, RefSeq RNA:NR_003043 No chr17 16342823 16342870 16439509 16439556 +PA34462 26773 HGNC:10097 ENSG00000238578 small nucleolar RNA, C/D box 4A SNORD4A Z17A, mgh18S-121 Yes No Ensembl:ENSG00000238578, GenAtlas:SNORD4A, GeneCard:SNORD4A, HGNC:HGNC:10097, HumanCyc Gene:HS11718, NCBI Gene:26773, RefSeq DNA:NT_010799, RefSeq RNA:NR_000010 No chr17 27049600 27049671 28722582 28722653 +PA34463 26772 HGNC:10098 ENSG00000238597 small nucleolar RNA, C/D box 4B SNORD4B Z17B Yes No Ensembl:ENSG00000238597, GenAtlas:SNORD4B, GeneCard:SNORD4B, HGNC:HGNC:10098, HumanCyc Gene:HS11717, NCBI Gene:26772, RefSeq DNA:NT_010799, RefSeq RNA:NR_000009 No chr17 27050699 27050772 28723681 28723754 +PA145007803 692072 HGNC:32702 ENSG00000239195 small nucleolar RNA, C/D box 5 SNORD5 mgh28S-2410 Yes No Ensembl:ENSG00000239195, GeneCard:SNORD5, HGNC:HGNC:32702, NCBI Gene:692072, RefSeq DNA:NT_167190, RefSeq RNA:NR_003033 No chr11 93466394 93466466 93733228 93733300 +PA34567 26799 HGNC:10200 small nucleolar RNA, C/D box 50A SNORD50A U50 Yes No GenAtlas:SNORD50A, GeneCard:SNORD50A, HGNC:HGNC:10200, HumanCyc Gene:HS11744, NCBI Gene:26799, OMIM:613117, RefSeq DNA:NT_007299, RefSeq RNA:NR_002743 No chr6 86387012 86387086 85677294 85677368 +PA145007798 692088 HGNC:32722 ENSG00000275072 small nucleolar RNA, C/D box 50B SNORD50B U50B Yes No Ensembl:ENSG00000275072, GeneCard:SNORD50B, HGNC:HGNC:32722, NCBI Gene:692088, OMIM:613264, RefSeq DNA:NT_007299, RefSeq RNA:NR_003044 No chr6 86387307 86387377 85677589 85677659 +PA34568 26798 HGNC:10201 ENSG00000207047 small nucleolar RNA, C/D box 51 SNORD51 U51 Yes No Ensembl:ENSG00000207047, GenAtlas:SNORD51, GeneCard:SNORD51, HGNC:HGNC:10201, HumanCyc Gene:HS11743, NCBI Gene:26798, RefSeq DNA:NT_005403, RefSeq RNA:NR_002589 No chr2 207026605 207026674 206161881 206161950 +PA34569 26797 HGNC:10202 ENSG00000201754 small nucleolar RNA, C/D box 52 SNORD52 U52 Yes No Ensembl:ENSG00000201754, GenAtlas:SNORD52, GeneCard:SNORD52, HGNC:HGNC:10202, HumanCyc Gene:HS11742, NCBI Gene:26797, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167248, RefSeq RNA:NR_002742 No chr6 31804853 31804916 31837076 31837139 +PA34570 26796 HGNC:10203 ENSG00000265145 small nucleolar RNA, C/D box 53 SNORD53 U53 Yes No Ensembl:ENSG00000265145, GenAtlas:SNORD53, GeneCard:SNORD53, HGNC:HGNC:10203, HumanCyc Gene:HS11741, NCBI Gene:26796, RefSeq DNA:NT_022184, RefSeq RNA:NR_002741 No chr2 29149933 29150008 28927067 28927142 +PA34571 26795 HGNC:10204 ENSG00000238650 small nucleolar RNA, C/D box 54 SNORD54 U54 Yes No Ensembl:ENSG00000238650, GenAtlas:SNORD54, GeneCard:SNORD54, HGNC:HGNC:10204, HumanCyc Gene:HS11740, NCBI Gene:26795, RefSeq DNA:NT_008183, RefSeq RNA:NR_002437 No chr8 56986398 56986460 56073839 56073901 +PA34572 26811 HGNC:10205 ENSG00000264294 small nucleolar RNA, C/D box 55 SNORD55 U39, U55 Yes No Ensembl:ENSG00000264294, GenAtlas:SNORD55, GeneCard:SNORD55, HGNC:HGNC:10205, HumanCyc Gene:HS11756, NCBI Gene:26811, RefSeq DNA:NT_032977, RefSeq RNA:NR_000015 No chr1 45241537 45241610 44775865 44775938 +PA34573 26793 HGNC:10206 ENSG00000229686 small nucleolar RNA, C/D box 56 SNORD56 U56 Yes No Ensembl:ENSG00000229686, GenAtlas:SNORD56, GeneCard:SNORD56, HGNC:HGNC:10206, HumanCyc Gene:HS11738, NCBI Gene:26793, RefSeq DNA:NT_011387, RefSeq RNA:NR_002739 No chr20 2637270 2637340 2656624 2656694 +PA162404302 319139 HGNC:19771 ENSG00000207444 small nucleolar RNA, C/D box 56B SNORD56B Yes No Ensembl:ENSG00000207444, GeneCard:SNORD56B, HGNC:HGNC:19771, HumanCyc Gene:HS11802, NCBI Gene:319139, RefSeq DNA:NT_026437, RefSeq RNA:NR_001276 No chr14 71865054 71865124 71398337 71398407 +PA34574 26792 HGNC:10207 ENSG00000226572 small nucleolar RNA, C/D box 57 SNORD57 U57 Yes No Ensembl:ENSG00000226572, GenAtlas:SNORD57, GeneCard:SNORD57, HGNC:HGNC:10207, HumanCyc Gene:HS11737, NCBI Gene:26792, RefSeq DNA:NT_011387, RefSeq RNA:NR_002738 No chr20 2637585 2637656 2656939 2657010 +PA34575 26791 HGNC:10208 ENSG00000206602 small nucleolar RNA, C/D box 58A SNORD58A U58a Yes No Ensembl:ENSG00000206602, GenAtlas:SNORD58A, GeneCard:SNORD58A, HGNC:HGNC:10208, HumanCyc Gene:HS11736, NCBI Gene:26791, RefSeq DNA:NT_010966, RefSeq RNA:NR_002571 No chr18 47017653 47017717 49491283 49491347 +PA34576 26790 HGNC:10209 ENSG00000271982 small nucleolar RNA, C/D box 58B SNORD58B U58b Yes No Ensembl:ENSG00000271982, GenAtlas:SNORD58B, GeneCard:SNORD58B, HGNC:HGNC:10209, HumanCyc Gene:HS11735, NCBI Gene:26790, RefSeq DNA:NT_010966, RefSeq RNA:NR_002572 No chr18 47018034 47018099 49491664 49491729 +PA162404303 100124516 HGNC:33613 ENSG00000202093 small nucleolar RNA, C/D box 58C SNORD58C Yes No Ensembl:ENSG00000202093, GeneCard:SNORD58C, HGNC:HGNC:33613, NCBI Gene:100124516, RefSeq DNA:NT_010966, RefSeq RNA:NR_003701 No chr18 47015605 47015694 49489235 49489324 +PA34577 26789 HGNC:10210 ENSG00000207031 small nucleolar RNA, C/D box 59A SNORD59A U59 Yes No Ensembl:ENSG00000207031, GenAtlas:SNORD59A, GeneCard:SNORD59A, HGNC:HGNC:10210, HumanCyc Gene:HS11734, NCBI Gene:26789, RefSeq DNA:NT_029419, RefSeq RNA:NR_002737 No chr12 57038811 57038885 56645027 56645101 +PA145007782 692090 HGNC:32723 small nucleolar RNA, C/D box 59B SNORD59B U59B Yes No GeneCard:SNORD59B, HGNC:HGNC:32723, NCBI Gene:692090, RefSeq DNA:NT_029419, RefSeq RNA:NR_003046 No chr12 57037464 57037538 56643680 56643754 +PA145007804 692075 HGNC:32703 ENSG00000202314 small nucleolar RNA, C/D box 6 SNORD6 mgh28S-2412 Yes No Ensembl:ENSG00000202314, GeneCard:SNORD6, HGNC:HGNC:32703, NCBI Gene:692075, RefSeq DNA:NT_167190, RefSeq RNA:NR_003036 No chr11 93464669 93464739 93731503 93731573 +PA34584 26788 HGNC:10217 ENSG00000206630 small nucleolar RNA, C/D box 60 SNORD60 U60 Yes No Ensembl:ENSG00000206630, GenAtlas:SNORD60, GeneCard:SNORD60, HGNC:HGNC:10217, HumanCyc Gene:HS11733, NCBI Gene:26788, RefSeq DNA:NT_010393, RefSeq RNA:NR_002736 No chr16 2205024 2205106 2155023 2155105 +PA34585 26787 HGNC:10218 ENSG00000206979 small nucleolar RNA, C/D box 61 SNORD61 HBII-342, U61 Yes No Ensembl:ENSG00000206979, GenAtlas:SNORD61, GeneCard:SNORD61, HGNC:HGNC:10218, HumanCyc Gene:HS11732, NCBI Gene:26787, RefSeq DNA:NT_011786, RefSeq RNA:NR_002735 No chrX 135961358 135961430 136879199 136879271 +PA34586 26786 HGNC:10219 ENSG00000235284 small nucleolar RNA, C/D box 62A SNORD62A U62, U62A Yes No Ensembl:ENSG00000235284, GenAtlas:SNORD62A, GeneCard:SNORD62A, HGNC:HGNC:10219, HumanCyc Gene:HS11731, NCBI Gene:26786, RefSeq DNA:NT_035014, RefSeq RNA:NR_002914 No chr9 134361052 134361137 131485665 131485750 +PA145007783 692093 HGNC:23031 ENSG00000231587 small nucleolar RNA, C/D box 62B SNORD62B U62, U62B Yes No Ensembl:ENSG00000231587, GeneCard:SNORD62B, HGNC:HGNC:23031, NCBI Gene:692093, RefSeq DNA:NT_035014, RefSeq RNA:NR_003050 No chr9 134365873 134365958 131490486 131490571 +PA34587 26785 HGNC:10220 ENSG00000252112 small nucleolar RNA, C/D box 63 SNORD63 U63 Yes No Ensembl:ENSG00000252112, GenAtlas:SNORD63, GeneCard:SNORD63, HGNC:HGNC:10220, HumanCyc Gene:HS11730, NCBI Gene:26785, RefSeq DNA:NT_034772, RefSeq RNA:NR_002913 No chr5 137896732 137896799 138561043 138561110 +PA145007784 347686 HGNC:32725 ENSG00000276610 small nucleolar RNA, C/D box 64 SNORD64 HBII-13 Yes No Ensembl:ENSG00000276610, GeneCard:SNORD64, HGNC:HGNC:32725, NCBI Gene:347686, RefSeq DNA:NG_002690, RefSeq DNA:NT_026446, RefSeq RNA:NR_001294 No chr15 25230247 25230313 24985100 24985166 +PA145007786 692106 HGNC:32726 ENSG00000277512 small nucleolar RNA, C/D box 65 SNORD65 HBII-135 Yes No Ensembl:ENSG00000277512, GeneCard:SNORD65, HGNC:HGNC:32726, NCBI Gene:692106, RefSeq DNA:NT_010718, RefSeq RNA:NR_003054 No chr17 16344540 16344612 16441226 16441298 +PA145007787 692107 HGNC:32727 ENSG00000212158 small nucleolar RNA, C/D box 66 SNORD66 HBII-142 Yes No Ensembl:ENSG00000212158, GeneCard:SNORD66, HGNC:HGNC:32727, NCBI Gene:692107, RefSeq DNA:NT_005612, RefSeq RNA:NR_003055 No chr3 184043484 184043559 184325696 184325771 +PA145007788 692108 HGNC:32728 ENSG00000212135 small nucleolar RNA, C/D box 67 SNORD67 HBII-166 Yes No Ensembl:ENSG00000212135, GeneCard:SNORD67, HGNC:HGNC:32728, NCBI Gene:692108, RefSeq DNA:NT_009237, RefSeq RNA:NR_003056 No chr11 46783939 46784049 46762389 46762499 +PA145007789 606500 HGNC:32729 ENSG00000200084 small nucleolar RNA, C/D box 68 SNORD68 HBII-202 Yes Yes Ensembl:ENSG00000200084, GeneCard:SNORD68, HGNC:HGNC:32729, NCBI Gene:606500, RefSeq DNA:NT_010542, RefSeq RNA:NR_002450 No chr16 89627838 89627909 89561430 89561501 +PA145007793 692109 HGNC:32730 ENSG00000212452 small nucleolar RNA, C/D box 69 SNORD69 HBII-210 Yes No Ensembl:ENSG00000212452, GeneCard:SNORD69, HGNC:HGNC:32730, NCBI Gene:692109, RefSeq DNA:NT_022517, RefSeq RNA:NR_003057 No chr3 52726752 52726828 52692736 52692812 +PA145007805 692076 HGNC:32704 ENSG00000207297 small nucleolar RNA, C/D box 7 SNORD7 Z30, mgU6-47 Yes No Ensembl:ENSG00000207297, GeneCard:SNORD7, HGNC:HGNC:32704, NCBI Gene:692076, RefSeq DNA:NT_010799, RefSeq RNA:NR_003037 No chr17 33900676 33900772 35573657 35573753 +PA145007794 692110 HGNC:32731 ENSG00000212534 small nucleolar RNA, C/D box 70 SNORD70 HBII-234 Yes No Ensembl:ENSG00000212534, GeneCard:SNORD70, HGNC:HGNC:32731, NCBI Gene:692110, RefSeq DNA:NT_005403, RefSeq RNA:NR_003058 No chr2 203141154 203141241 202276431 202276518 +PA145007795 692111 HGNC:32732 ENSG00000223224 small nucleolar RNA, C/D box 71 SNORD71 HBII-239, hsa-mir-768 Yes No Ensembl:ENSG00000223224, GeneCard:SNORD71, HGNC:HGNC:32732, NCBI Gene:692111, RefSeq DNA:NT_010498, RefSeq RNA:NR_003059 No chr16 71792305 71792390 71758402 71758487 +PA145007768 619564 HGNC:32733 ENSG00000212296 small nucleolar RNA, C/D box 72 SNORD72 HBII-240 Yes No Ensembl:ENSG00000212296, GeneCard:SNORD72, HGNC:HGNC:32733, NCBI Gene:619564, RefSeq DNA:NT_006576, RefSeq RNA:NR_002583 No chr5 40832758 40832837 40832656 40832735 +PA34602 8944 HGNC:10235 ENSG00000208797 small nucleolar RNA, C/D box 73A SNORD73A RNU73A, U73a Yes No Ensembl:ENSG00000208797, GenAtlas:SNORD73A, GeneCard:SNORD73A, HGNC:HGNC:10235, HumanCyc Gene:HS11835, NCBI Gene:8944, OMIM:603568, RefSeq DNA:NT_016354, RefSeq RNA:NR_000007 No chr4 152024979 152025043 151103827 151103891 +PA134969748 114655 HGNC:30357 ENSG00000201264 small nucleolar RNA, C/D box U73B (pseudogene) SNORD73B U73B Yes No Ensembl:ENSG00000201264, GeneCard:SNORD73B, HGNC:HGNC:30357, NCBI Gene:114655, RefSeq DNA:NG_000961, RefSeq DNA:NT_016354 No chr4 152023109 152023383 151101957 151102231 +PA145007769 619498 HGNC:32734 small nucleolar RNA, C/D box 74 SNORD74 U74, Z18 Yes No GeneCard:SNORD74, HGNC:HGNC:32734, NCBI Gene:619498, RefSeq DNA:NT_004487, RefSeq RNA:NR_002579 No chr1 173836812 173836883 173867674 173867745 +PA145007770 692195 HGNC:32735 small nucleolar RNA, C/D box 75 SNORD75 U75 Yes No GeneCard:SNORD75, HGNC:HGNC:32735, NCBI Gene:692195, RefSeq DNA:NT_004487, RefSeq RNA:NR_003941 No chr1 173836017 173836076 173866879 173866938 +PA145007771 692196 HGNC:32736 small nucleolar RNA, C/D box 76 SNORD76 U76 Yes No GeneCard:SNORD76, HGNC:HGNC:32736, NCBI Gene:692196, RefSeq DNA:NT_004487, RefSeq RNA:NR_003942 No chr1 173835773 173835853 173866635 173866715 +PA145007772 692197 HGNC:32737 small nucleolar RNA, C/D box 77 SNORD77 U77 Yes No GeneCard:SNORD77, HGNC:HGNC:32737, NCBI Gene:692197, RefSeq DNA:NT_004487, RefSeq RNA:NR_003943 No chr1 173835449 173835509 173866311 173866371 +PA145007773 692198 HGNC:32738 small nucleolar RNA, C/D box 78 SNORD78 U78 Yes No GeneCard:SNORD78, HGNC:HGNC:32738, NCBI Gene:692198, RefSeq DNA:NT_004487, RefSeq RNA:NR_003944 No chr1 173834771 173834824 173865633 173865686 +PA34465 26770 HGNC:10100 ENSG00000251878 small nucleolar RNA, C/D box 79 SNORD79 U79, Z22 Yes No Ensembl:ENSG00000251878, GenAtlas:SNORD79, GeneCard:SNORD79, HGNC:HGNC:10100, HumanCyc Gene:HS11715, NCBI Gene:26770, RefSeq DNA:NT_004487, RefSeq RNA:NR_003939 No chr1 173834488 173834568 173865350 173865430 +PA134902395 319103 HGNC:20159 ENSG00000200785 small nucleolar RNA, C/D box 8 SNORD8 mgU6-53 Yes No Ensembl:ENSG00000200785, GeneCard:SNORD8, HGNC:HGNC:20159, HumanCyc Gene:HS11801, NCBI Gene:319103, RefSeq DNA:NT_026437, RefSeq RNA:NR_002916 No chr14 21865452 21865560 21397293 21397401 +PA34461 26774 HGNC:10096 small nucleolar RNA, C/D box 80 SNORD80 U80, Z15 Yes No GenAtlas:SNORD80, GeneCard:SNORD80, HGNC:HGNC:10096, HumanCyc Gene:HS11719, NCBI Gene:26774, RefSeq DNA:NT_004487, RefSeq RNA:NR_003940 No chr1 173833971 173834041 173864833 173864903 +PA34466 26769 HGNC:10101 ENSG00000212278 small nucleolar RNA, C/D box 81 SNORD81 U81, Z23 Yes No Ensembl:ENSG00000212278, GenAtlas:SNORD81, GeneCard:SNORD81, HGNC:HGNC:10101, HumanCyc Gene:HS11714, NCBI Gene:26769, RefSeq DNA:NT_004487, RefSeq RNA:NR_003938 No chr1 173833313 173833355 173864175 173864217 +PA34607 25826 HGNC:10240 ENSG00000202400 small nucleolar RNA, C/D box 82 SNORD82 U82, Z25 Yes No Ensembl:ENSG00000202400, GenAtlas:SNORD82, GeneCard:SNORD82, HGNC:HGNC:10240, HumanCyc Gene:HS11709, NCBI Gene:25826, OMIM:611133, RefSeq DNA:NT_005403, RefSeq RNA:NR_004398 No chr2 232325079 232325153 231460368 231460442 +PA34608 116937 HGNC:17131 ENSG00000209482 small nucleolar RNA, C/D box 83A SNORD83A U83A Yes No Ensembl:ENSG00000209482, GenAtlas:SNORD83A, GeneCard:SNORD83A, HGNC:HGNC:17131, HumanCyc Gene:HS11704, NCBI Gene:116937, OMIM:611070, RefSeq DNA:NT_011520, RefSeq RNA:NR_000027 No chr22 39711218 39711312 39315213 39315307 +PA34609 116938 HGNC:17132 ENSG00000209480 small nucleolar RNA, C/D box 83B SNORD83B U83B Yes No Ensembl:ENSG00000209480, GenAtlas:SNORD83B, GeneCard:SNORD83B, HGNC:HGNC:17132, HumanCyc Gene:HS11705, NCBI Gene:116938, OMIM:611071, RefSeq DNA:NT_011520, RefSeq RNA:NR_000028 No chr22 39709824 39709916 39313819 39313911 +PA145007774 692199 HGNC:32743 ENSG00000265236 small nucleolar RNA, C/D box 84 SNORD84 U84 Yes No Ensembl:ENSG00000265236, GeneCard:SNORD84, HGNC:HGNC:32743, NCBI Gene:692199, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_003065 No chr6 31508878 31508955 31541101 31541178 +PA145007776 692201 HGNC:32745 ENSG00000212498 small nucleolar RNA, C/D box 86 SNORD86 U86 Yes No Ensembl:ENSG00000212498, GeneCard:SNORD86, HGNC:HGNC:32745, NCBI Gene:692201, RefSeq DNA:NT_011387, RefSeq RNA:NR_004399 No chr20 2636743 2636828 2656097 2656182 +PA145007777 641648 HGNC:32746 ENSG00000254341 small nucleolar RNA, C/D box 87 SNORD87 HBII-276, U87 Yes No Ensembl:ENSG00000254341, GeneCard:SNORD87, HGNC:HGNC:32746, NCBI Gene:641648, OMIM:612216, RefSeq DNA:NT_008183, RefSeq RNA:NR_002598 No chr8 67834709 67834784 66922474 66922549 +PA145007778 692202 HGNC:32747 ENSG00000221241 small nucleolar RNA, C/D box 88A SNORD88A HBII-180A Yes No Ensembl:ENSG00000221241, GeneCard:SNORD88A, HGNC:HGNC:32747, NCBI Gene:692202, RefSeq DNA:NT_011109, RefSeq RNA:NR_003067 No chr19 51302696 51302792 50799439 50799535 +PA145007779 692203 HGNC:32748 ENSG00000221381 small nucleolar RNA, C/D box 88B SNORD88B HBII-180B Yes No Ensembl:ENSG00000221381, GeneCard:SNORD88B, HGNC:HGNC:32748, NCBI Gene:692203, RefSeq DNA:NT_011109, RefSeq RNA:NR_003068 No chr19 51302286 51302382 50799029 50799125 +PA145007780 692204 HGNC:32749 ENSG00000220988 small nucleolar RNA, C/D box 88C SNORD88C HBII-180C Yes No Ensembl:ENSG00000220988, GeneCard:SNORD88C, HGNC:HGNC:32749, NCBI Gene:692204, RefSeq DNA:NT_011109, RefSeq RNA:NR_003069 No chr19 51305582 51305678 50802325 50802421 +PA145007781 692205 HGNC:32750 ENSG00000212283 small nucleolar RNA, C/D box 89 SNORD89 HBII-289 Yes No Ensembl:ENSG00000212283, GeneCard:SNORD89, HGNC:HGNC:32750, NCBI Gene:692205, RefSeq DNA:NT_022171, RefSeq RNA:NR_003070 No chr2 101889398 101889511 101272936 101273049 +PA145007806 692053 HGNC:32705 ENSG00000199436 small nucleolar RNA, C/D box 9 SNORD9 mgU6-53B Yes No Ensembl:ENSG00000199436, GeneCard:SNORD9, HGNC:HGNC:32705, NCBI Gene:692053, RefSeq DNA:NT_026437, RefSeq RNA:NR_003029 No chr14 21860310 21860412 21392151 21392253 +PA145007736 692206 HGNC:32751 ENSG00000212447 small nucleolar RNA, C/D box 90 SNORD90 HBII-295 Yes No Ensembl:ENSG00000212447, GeneCard:SNORD90, HGNC:HGNC:32751, NCBI Gene:692206, RefSeq DNA:NT_008470, RefSeq RNA:NR_003071 No chr9 125642492 125642598 122880213 122880319 +PA145007737 692207 HGNC:32752 ENSG00000212163 small nucleolar RNA, C/D box 91A SNORD91A HBII-296a Yes No Ensembl:ENSG00000212163, GeneCard:SNORD91A, HGNC:HGNC:32752, NCBI Gene:692207, RefSeq DNA:NT_010718, RefSeq RNA:NR_003072 No chr17 2233573 2233664 2330279 2330370 +PA145007738 692208 HGNC:32753 ENSG00000275084 small nucleolar RNA, C/D box 91B SNORD91B HBII-296b Yes No Ensembl:ENSG00000275084, GeneCard:SNORD91B, HGNC:HGNC:32753, NCBI Gene:692208, RefSeq DNA:NT_010718, RefSeq RNA:NR_003073 No chr17 2232419 2232504 2329125 2329210 +PA145007739 692209 HGNC:32754 ENSG00000264994 small nucleolar RNA, C/D box 92 SNORD92 HBII-316 Yes No Ensembl:ENSG00000264994, GeneCard:SNORD92, HGNC:HGNC:32754, NCBI Gene:692209, RefSeq DNA:NT_022184, RefSeq RNA:NR_003074 No chr2 29136528 29136616 28913662 28913750 +PA145007740 692210 HGNC:32755 ENSG00000221740 small nucleolar RNA, C/D box 93 SNORD93 HBII-336 Yes No Ensembl:ENSG00000221740, GeneCard:SNORD93, HGNC:HGNC:32755, NCBI Gene:692210, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:NR_003075 No chr7 22896232 22896305 22856613 22856686 +PA145007741 692225 HGNC:32756 ENSG00000208772 small nucleolar RNA, C/D box 94 SNORD94 U94 Yes No Ensembl:ENSG00000208772, GeneCard:SNORD94, HGNC:HGNC:32756, NCBI Gene:692225, RefSeq DNA:NT_022184, RefSeq RNA:NR_004378 No chr2 86362993 86363129 86135870 86136006 +PA145007742 619570 HGNC:32757 ENSG00000264549 small nucleolar RNA, C/D box 95 SNORD95 U95 Yes No Ensembl:ENSG00000264549, GeneCard:SNORD95, HGNC:HGNC:32757, NCBI Gene:619570, RefSeq DNA:NT_023133, RefSeq RNA:NR_002591 No chr5 180670314 180670376 181243314 181243376 +PA145007743 619571 HGNC:32758 ENSG00000272296 small nucleolar RNA, C/D box 96A SNORD96A U96a Yes No Ensembl:ENSG00000272296, GeneCard:SNORD96A, HGNC:HGNC:32758, NCBI Gene:619571, RefSeq DNA:NT_023133, RefSeq RNA:NR_002592 No chr5 180668818 180668889 181241818 181241889 +PA145007744 692226 HGNC:32759 ENSG00000208883 small nucleolar RNA, C/D box 96B SNORD96B U96b Yes No Ensembl:ENSG00000208883, GeneCard:SNORD96B, HGNC:HGNC:32759, NCBI Gene:692226, RefSeq DNA:NT_011651, RefSeq RNA:NR_004379 No chrX 109468217 109468288 110224989 110225060 +PA145007745 692223 HGNC:32760 ENSG00000238622 small nucleolar RNA, C/D box 97 SNORD97 U97 Yes No Ensembl:ENSG00000238622, GeneCard:SNORD97, HGNC:HGNC:32760, NCBI Gene:692223, RefSeq DNA:NT_009237, RefSeq RNA:NR_004403 No chr11 10823014 10823155 10801467 10801608 +PA145007746 692211 HGNC:32761 ENSG00000283551 small nucleolar RNA, C/D box 98 SNORD98 HBII-419 Yes No Ensembl:ENSG00000283551, GeneCard:SNORD98, HGNC:HGNC:32761, NCBI Gene:692211, RefSeq DNA:NT_030059, RefSeq RNA:NR_003076 No chr10 70514929 70514995 68755172 68755238 +PA145007747 692212 HGNC:32762 ENSG00000221539 small nucleolar RNA, C/D box 99 SNORD99 HBII-420 Yes No Ensembl:ENSG00000221539, GeneCard:SNORD99, HGNC:HGNC:32762, NCBI Gene:692212, RefSeq DNA:NT_004610, RefSeq RNA:NR_003077 No chr1 28905255 28905334 28578743 28578822 +PA38053 9751 HGNC:15931 ENSG00000101298 syntaphilin SNPH bA314N13.5 Yes No Comparative Toxicogenomics Database:9751, Ensembl:ENSG00000101298, GenAtlas:SNPH, GeneCard:SNPH, HGNC:HGNC:15931, HumanCyc Gene:HS02235, ModBase:O15079, NCBI Gene:9751, OMIM:604942, RefSeq DNA:NT_011387, RefSeq Protein:NP_055538, RefSeq RNA:NM_014723, UCSC Genome Browser:NM_014723, UniProtKB:O15079 No chr20 1246948 1289971 1266291 1309327 +PA142670894 54861 HGNC:30598 ENSG00000163788 SNF related kinase SNRK FLJ20224, HSNFRK, KIAA0096 Yes No Comparative Toxicogenomics Database:54861, Ensembl:ENSG00000163788, GeneCard:SNRK, HGNC:HGNC:30598, HumanCyc Gene:HS08935, ModBase:Q9NRH2, NCBI Gene:54861, OMIM:612760, RefSeq DNA:NT_022517, RefSeq Protein:NP_001094064, RefSeq Protein:NP_060189, RefSeq RNA:NM_001100594, RefSeq RNA:NM_017719, UniProtKB:Q9NRH2 No chr3 43328004 43392635 43286512 43351143 +PA164726004 23020 HGNC:30859 ENSG00000144028 small nuclear ribonucleoprotein U5 subunit 200 SNRNP200 """U5 snRNP specific protein, 200 KD"", ""bad response to refrigeration 2 homolog (S. cerevisiae)"", ""small nuclear ribonucleoprotein 200kDa (U5)""" ASCC3L1, BRR2, HELIC2, KIAA0788, RP33, U5-200KD Yes No Ensembl:ENSG00000144028, GeneCard:SNRNP200, HGNC:HGNC:30859, HumanCyc Gene:HS07137, ModBase:O75643, NCBI Gene:23020, OMIM:601664, OMIM:610359, RefSeq DNA:NG_016973, RefSeq DNA:NT_022171, RefSeq Protein:NP_054733, RefSeq RNA:NM_014014, UniProtKB:O75643 No chr2 96940074 96971307 96274336 96321893 +PA164726099 79622 HGNC:14161 ENSG00000161981 small nuclear ribonucleoprotein U11/U12 subunit 25 SNRNP25 U11/U12 snRNP 25K, small nuclear ribonucleoprotein 25kDa (U11/U12) C16orf33, U11/U12-25K Yes No Ensembl:ENSG00000161981, GeneCard:SNRNP25, HGNC:HGNC:14161, HumanCyc Gene:HS14887, ModBase:Q9BV90, NCBI Gene:79622, RefSeq DNA:NG_017004, RefSeq DNA:NT_010393, RefSeq Protein:NP_078847, RefSeq RNA:NM_024571, UniProtKB:Q9BV90 No chr16 103829 107669 53829 57669 +PA164726114 11017 HGNC:30240 ENSG00000124380 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 SNRNP27 U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein, nucleic acid binding protein RY 1, small nuclear ribonucleoprotein 27kDa (U4/U6.U5) RY1, U4/U6.U5-27K Yes No Ensembl:ENSG00000124380, GeneCard:SNRNP27, HGNC:HGNC:30240, HumanCyc Gene:HS04764, ModBase:Q8WVK2, NCBI Gene:11017, RefSeq DNA:NT_022184, RefSeq Protein:NP_006848, RefSeq RNA:NM_006857, RefSeq RNA:NR_037862, UCSC Genome Browser:NM_006857, UniProtKB:A8K513, UniProtKB:Q8WVK2 No chr2 70121075 70132368 69893943 69905236 +PA164726115 11066 HGNC:30852 ENSG00000184209 small nuclear ribonucleoprotein U11/U12 subunit 35 SNRNP35 U1 snRNP binding protein homolog, small nuclear ribonucleoprotein 35kDa (U11/U12) U1SNRNPBP Yes No Ensembl:ENSG00000184209, GeneCard:SNRNP35, HGNC:HGNC:30852, ModBase:Q16560, NCBI Gene:11066, RefSeq DNA:NT_009755, RefSeq Protein:NP_073208, RefSeq Protein:NP_851030, RefSeq Protein:NP_851034, RefSeq RNA:NM_022717, RefSeq RNA:NM_180699, RefSeq RNA:NM_180703, UniProtKB:Q16560 No chr12 123942191 123950941 123457644 123472362 +PA164726132 9410 HGNC:30857 ENSG00000060688 small nuclear ribonucleoprotein U5 subunit 40 SNRNP40 small nuclear ribonucleoprotein 40kDa (U5) HPRP8BP, PRP8BP, PRPF8BP, SPF38, WDR57 Yes No Ensembl:ENSG00000060688, GeneCard:SNRNP40, HGNC:HGNC:30857, HumanCyc Gene:HS00748, ModBase:Q96DI7, NCBI Gene:9410, OMIM:607797, RefSeq DNA:NT_032977, RefSeq Protein:NP_004805, RefSeq RNA:NM_004814, UniProtKB:A0MNP2, UniProtKB:Q96DI7 No chr1 31732415 31769644 31259568 31296797 +PA164726157 154007 HGNC:21368 ENSG00000168566 small nuclear ribonucleoprotein U11/U12 subunit 48 SNRNP48 U11-48K, U11/U12 snRNP 48K, small nuclear ribonucleoprotein 48kDa (U11/U12) C6orf151, FLJ32234, dJ336K20B.1, dJ512B11.2 Yes No Ensembl:ENSG00000168566, GeneCard:SNRNP48, HGNC:HGNC:21368, HumanCyc Gene:HS15685, ModBase:Q6IEG0, NCBI Gene:154007, RefSeq DNA:NT_007592, RefSeq Protein:NP_689764, RefSeq RNA:NM_152551, UniProtKB:Q6IEG0 No chr6 7590432 7612200 7590199 7611967 +PA35992 6625 HGNC:11150 ENSG00000104852 small nuclear ribonucleoprotein U1 subunit 70 SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) RNPU1Z, RPU1, SNRP70, Snp1, U1-70K Yes No Comparative Toxicogenomics Database:6625, Ensembl:ENSG00000104852, GenAtlas:SNRP70, GeneCard:SNRNP70, GeneCard:SNRP70, HGNC:HGNC:11150, HumanCyc Gene:HS02633, ModBase:Q9UE45, NCBI Gene:6625, OMIM:180740, RefSeq DNA:NT_011109, RefSeq Protein:NP_001009820, RefSeq Protein:NP_003080, RefSeq RNA:NM_001009820, RefSeq RNA:NM_003089, UCSC Genome Browser:NM_003089, UniProtKB:P08621 No chr19 49588465 49611870 49085140 49108613 +PA35993 6626 HGNC:11151 ENSG00000077312 small nuclear ribonucleoprotein polypeptide A SNRPA Mud1, U1-A, U1A Yes No Comparative Toxicogenomics Database:6626, Ensembl:ENSG00000077312, GenAtlas:SNRPA, GeneCard:SNRPA, HGNC:HGNC:11151, HumanCyc Gene:HS01241, ModBase:P09012, NCBI Gene:6626, OMIM:182285, RefSeq DNA:NT_011109, RefSeq Protein:NP_004587, RefSeq RNA:NM_004596, UCSC Genome Browser:NM_004596, UniProtKB:P09012 No chr19 41256725 41271297 40750854 40765392 +PA35994 6627 HGNC:11152 ENSG00000131876 small nuclear ribonucleoprotein polypeptide A' SNRPA1 Lea1, U2A' Yes No Comparative Toxicogenomics Database:6627, Ensembl:ENSG00000131876, GenAtlas:SNRPA1, GeneCard:SNRPA1, HGNC:HGNC:11152, HumanCyc Gene:HS05581, ModBase:P09661, NCBI Gene:6627, OMIM:603521, RefSeq DNA:NT_010274, RefSeq Protein:NP_003081, RefSeq RNA:NM_003090, UCSC Genome Browser:NM_003090, UniProtKB:P09661 No chr15 101821715 101835481 101281510 101295282 +PA35995 6628 HGNC:11153 ENSG00000125835 small nuclear ribonucleoprotein polypeptides B and B1 SNRPB COD, SNRPB1, Sm-B/B', SmB/SmB', snRNP-B Yes No Comparative Toxicogenomics Database:6628, Ensembl:ENSG00000125835, GenAtlas:SNRPB, GeneCard:SNRPB, HGNC:HGNC:11153, HumanCyc Gene:HS04950, ModBase:P14678, NCBI Gene:6628, OMIM:182282, RefSeq DNA:NT_011387, RefSeq Protein:NP_003082, RefSeq Protein:NP_937859, RefSeq RNA:NM_003091, RefSeq RNA:NM_198216, UCSC Genome Browser:NM_003091, UniProtKB:P14678, UniProtKB:Q66K91 No chr20 2442281 2451499 2461635 2470853 +PA35996 6629 HGNC:11155 ENSG00000125870 small nuclear ribonucleoprotein polypeptide B2 SNRPB2 small nuclear ribonucleoprotein polypeptide B Msl1, U2B'' Yes No Comparative Toxicogenomics Database:6629, Ensembl:ENSG00000125870, GenAtlas:SNRPB2, GeneCard:SNRPB2, HGNC:HGNC:11155, HumanCyc Gene:HS04963, ModBase:P08579, NCBI Gene:6629, OMIM:603520, RefSeq DNA:NT_011387, RefSeq Protein:NP_003083, RefSeq Protein:NP_937863, RefSeq RNA:NM_003092, RefSeq RNA:NM_198220, UCSC Genome Browser:NM_003092, UniProtKB:P08579 No chr20 16710609 16722417 16729964 16741772 +PA35998 6631 HGNC:11157 ENSG00000124562 small nuclear ribonucleoprotein polypeptide C SNRPC U1-C, Yhc1 Yes No Comparative Toxicogenomics Database:6631, Ensembl:ENSG00000124562, GenAtlas:SNRPC, GeneCard:SNRPC, HGNC:HGNC:11157, HumanCyc Gene:HS04793, NCBI Gene:6631, OMIM:603522, RefSeq DNA:NT_007592, RefSeq Protein:NP_003084, RefSeq RNA:NM_003093, RefSeq RNA:NR_029472, UCSC Genome Browser:NM_003093, UniProtKB:P09234, UniProtKB:Q5TAL4 No chr6 34724871 34741634 34757094 34773857 +PA164742464 6632 HGNC:11158 ENSG00000167088 small nuclear ribonucleoprotein D1 polypeptide SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa HsT2456, SNRPD, Sm-D1 Yes No Ensembl:ENSG00000167088, GeneCard:SNRPD1, HGNC:HGNC:11158, HumanCyc Gene:HS09509, ModBase:P62314, NCBI Gene:6632, OMIM:601063, RefSeq DNA:NT_010966, RefSeq Protein:NP_008869, RefSeq RNA:NM_006938, UniProtKB:P62314 No chr18 19192260 19210208 21612269 21630247 +PA36000 6633 HGNC:11159 ENSG00000125743 small nuclear ribonucleoprotein D2 polypeptide SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa, snRNP core protein D2 SNRPD1, Sm-D2 Yes No Comparative Toxicogenomics Database:6633, Ensembl:ENSG00000125743, GenAtlas:SNRPD2, GeneCard:SNRPD2, HGNC:HGNC:11159, HumanCyc Gene:HS04924, ModBase:P62316, NCBI Gene:6633, OMIM:601061, RefSeq DNA:NT_011109, RefSeq Protein:NP_004588, RefSeq Protein:NP_808210, RefSeq RNA:NM_004597, RefSeq RNA:NM_177542, UCSC Genome Browser:NM_004597, UniProtKB:P62316 No chr19 46190712 46195569 45687454 45692316 +PA36001 6634 HGNC:11160 ENSG00000100028 small nuclear ribonucleoprotein D3 polypeptide SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa SMD3, Sm-D3 Yes No Comparative Toxicogenomics Database:6634, Ensembl:ENSG00000100028, GenAtlas:SNRPD3, GeneCard:SNRPD3, HGNC:HGNC:11160, HumanCyc Gene:HS01954, ModBase:P62318, NCBI Gene:6634, OMIM:601062, RefSeq DNA:NT_011520, RefSeq Protein:NP_004166, RefSeq RNA:NM_004175, UCSC Genome Browser:NM_004175, UniProtKB:P62318 No chr22 24951618 24970932 24555650 24574964 +PA36002 6635 HGNC:11161 ENSG00000182004 small nuclear ribonucleoprotein polypeptide E SNRPE Sm-E Yes No Comparative Toxicogenomics Database:6635, Ensembl:ENSG00000182004, GenAtlas:SNRPE, GeneCard:SNRPE, HGNC:HGNC:11161, ModBase:P62304, NCBI Gene:6635, OMIM:128260, RefSeq DNA:NT_004487, RefSeq Protein:NP_003085, RefSeq RNA:NM_003094, UCSC Genome Browser:NM_003094, UniProtKB:P62304 No chr1 203830740 203840280 203861585 203871152 +PA134958978 414153 HGNC:20733 ENSG00000256968 small nuclear ribonucleoprotein polypeptide E pseudogene 2 SNRPEP2 bA390F4.4 Yes No Ensembl:ENSG00000256968, GeneCard:SNRPEP2, HGNC:HGNC:20733, ModBase:Q5VYJ4, NCBI Gene:414153, RefSeq DNA:NG_006656, RefSeq DNA:NT_008413 No chr9 6748553 6749012 6748553 6749014 +PA36003 6636 HGNC:11162 ENSG00000139343 small nuclear ribonucleoprotein polypeptide F SNRPF Sm-F Yes No Comparative Toxicogenomics Database:6636, Ensembl:ENSG00000139343, GenAtlas:SNRPF, GeneCard:SNRPF, HGNC:HGNC:11162, HumanCyc Gene:HS06610, ModBase:P62306, NCBI Gene:6636, OMIM:603541, RefSeq DNA:NT_029419, RefSeq Protein:NP_003086, RefSeq RNA:NM_003095, UCSC Genome Browser:NM_003095, UniProtKB:P62306 No chr12 96252709 96260238 95858931 95866460 +PA38161 170550 HGNC:16551 ENSG00000231878 small nuclear ribonucleoprotein polypeptide F pseudogene 1 SNRPFP1 dJ1041C10.2 Yes No Ensembl:ENSG00000231878, GenAtlas:SNRPFP1, GeneCard:SNRPFP1, HGNC:HGNC:16551, NCBI Gene:170550, RefSeq DNA:NG_001056, RefSeq DNA:NT_011362 No chr20 48346109 48346476 49729572 49729939 +PA36004 6637 HGNC:11163 ENSG00000143977 small nuclear ribonucleoprotein polypeptide G SNRPG Sm-G Yes No Comparative Toxicogenomics Database:6637, Ensembl:ENSG00000143977, GenAtlas:SNRPG, GeneCard:SNRPG, HGNC:HGNC:11163, HumanCyc Gene:HS07130, ModBase:P62308, NCBI Gene:6637, OMIM:603542, RefSeq DNA:NT_022184, RefSeq Protein:NP_003087, RefSeq RNA:NM_003096, UCSC Genome Browser:NM_003096, UniProtKB:P62308 No chr2 70508510 70520869 70281362 70293771 +PA134893290 326272 HGNC:20033 ENSG00000258577 small nuclear ribonucleoprotein polypeptide G pseudogene 1 SNRPGP1 Yes No Ensembl:ENSG00000258577, GeneCard:SNRPGP1, HGNC:HGNC:20033, NCBI Gene:326272, RefSeq DNA:NG_002533, RefSeq DNA:NT_026437 No chr14 51038492 51038883 50571774 50572173 +PA134863404 100130003 HGNC:30999 ENSG00000264350 small nuclear ribonucleoprotein polypeptide G pseudogene 2 SNRPGP2 HsT2742 Yes No Ensembl:ENSG00000264350, GeneCard:SNRPGP2, HGNC:HGNC:30999, NCBI Gene:100130003 No chr18 51933254 51933484 54406754 54407195 +PA36005 6638 HGNC:11164 ENSG00000128739 small nuclear ribonucleoprotein polypeptide N SNRPN SM protein N, small nuclear ribonucleoprotein N, tissue-specific splicing protein HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN Yes No Comparative Toxicogenomics Database:6638, Ensembl:ENSG00000128739, GenAtlas:SNRPN, GeneCard:SNRPN, HGNC:HGNC:11164, HumanCyc Gene:HS05222, ModBase:P63162, NCBI Gene:6638, OMIM:176270, OMIM:182279, RefSeq DNA:NG_002690, RefSeq DNA:NG_009157, RefSeq DNA:NG_012958, RefSeq DNA:NT_026446, RefSeq Protein:NP_003088, RefSeq Protein:NP_073716, RefSeq Protein:NP_073717, RefSeq Protein:NP_073718, RefSeq Protein:NP_073719, RefSeq RNA:NM_003097, RefSeq RNA:NM_022805, RefSeq RNA:NM_022806, RefSeq RNA:NM_022807, RefSeq RNA:NM_022808, UCSC Genome Browser:NM_003097, UniProtKB:P63162 No chr15 25068794 25223730 24823637 24978723 +PA36007 6640 HGNC:11167 ENSG00000101400 syntrophin alpha 1 SNTA1 """dystrophin-associated protein A1, 59kDa, acidic component"", ""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""syntrophin, alpha 1""" LQT12, SNT1, TACIP1 Yes No Comparative Toxicogenomics Database:6640, Ensembl:ENSG00000101400, GenAtlas:SNTA1, GeneCard:SNTA1, HGNC:HGNC:11167, HumanCyc Gene:HS02259, ModBase:Q13424, NCBI Gene:6640, OMIM:601017, OMIM:612955, RefSeq DNA:NG_011622, RefSeq DNA:NT_011362, RefSeq Protein:NP_003089, RefSeq RNA:NM_003098, UCSC Genome Browser:NM_003098, UniProtKB:Q13424 No chr20 31995763 32031698 33407957 33443892 +PA36008 6641 HGNC:11168 ENSG00000172164 syntrophin beta 1 SNTB1 """syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)"", ""tax interaction protein 43""" 59-DAP, A1B, BSYN2, SNT2, SNT2B1, TIP-43 Yes No Comparative Toxicogenomics Database:6641, Ensembl:ENSG00000172164, GenAtlas:SNTB1, GeneCard:SNTB1, HGNC:HGNC:11168, HumanCyc Gene:HS10460, ModBase:Q13884, NCBI Gene:6641, OMIM:600026, RefSeq DNA:NT_008046, RefSeq Protein:NP_066301, RefSeq RNA:NM_021021, UCSC Genome Browser:NM_021021, UniProtKB:Q13884 No chr8 121547985 121825599 120535745 120812069 +PA36009 6645 HGNC:11169 ENSG00000168807 syntrophin beta 2 SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) D16S2531E, EST25263, SNT2B2, SNT3, SNTL Yes No Ensembl:ENSG00000168807, GenAtlas:SNTB2, GeneCard:SNTB2, HGNC:HGNC:11169, HumanCyc Gene:HS09826, ModBase:Q13425, NCBI Gene:6645, OMIM:600027, RefSeq DNA:NT_010498, RefSeq Protein:NP_006741, RefSeq RNA:NM_006750, UCSC Genome Browser:NM_006750, UniProtKB:Q13425 No chr16 69221050 69342955 69186133 69309052 +PA37806 54212 HGNC:13740 ENSG00000147481 syntrophin gamma 1 SNTG1 """Gamma-1-syntrophin"", ""syntrophin, gamma 1""" G1SYN, SYN4 Yes No Ensembl:ENSG00000147481, GenAtlas:SNTG1, GeneCard:SNTG1, HGNC:HGNC:13740, HumanCyc Gene:HS07440, ModBase:Q9NSN8, NCBI Gene:54212, OMIM:608714, RefSeq DNA:NT_008183, RefSeq Protein:NP_061840, RefSeq RNA:NM_018967, UCSC Genome Browser:NM_018967, UniProtKB:Q9NSN8 No chr8 50822349 51706171 49909726 50796656 +PA37807 54221 HGNC:13741 ENSG00000172554 syntrophin gamma 2 SNTG2 syntrophin, gamma 2 G2SYN, SYN5 Yes No Comparative Toxicogenomics Database:54221, Ensembl:ENSG00000172554, GenAtlas:SNTG2, GeneCard:SNTG2, HGNC:HGNC:13741, HumanCyc Gene:HS10537, ModBase:Q9NY99, NCBI Gene:54221, OMIM:608715, RefSeq DNA:NT_022221, RefSeq Protein:NP_061841, RefSeq RNA:NM_018968, UCSC Genome Browser:NM_018968, UniProtKB:Q9NY99 No chr2 946554 1371401 950868 1367991 +PA164726205 132203 HGNC:33706 ENSG00000188817 sentan, cilia apical structure protein SNTN S100A-like protein FLJ44379, S100AL Yes No Ensembl:ENSG00000188817, GeneCard:SNTN, HGNC:HGNC:33706, NCBI Gene:132203, RefSeq DNA:NT_022517, RefSeq Protein:NP_001074006, RefSeq RNA:NM_001080537, UniProtKB:A6NMZ2 No chr3 63638344 63650893 63652668 63665217 +PA31621 4809 HGNC:7819 ENSG00000100138 small nuclear ribonucleoprotein 13 SNU13 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae), small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5) 15.5K, FA-1, NHP2L1, SNRNP15-5, SNU13, SPAG12, SSFA1 Yes Yes Comparative Toxicogenomics Database:4809, Ensembl:ENSG00000100138, GenAtlas:NHP2L1, GeneCard:NHP2L1, HGNC:HGNC:7819, HumanCyc Gene:HS01984, ModBase:P55769, NCBI Gene:4809, OMIM:601304, RefSeq DNA:NT_011520, RefSeq Protein:NP_001003796, RefSeq Protein:NP_004999, RefSeq RNA:NM_001003796, RefSeq RNA:NM_005008, UCSC Genome Browser:NM_005008, UniProtKB:P55769, UniProtKB:Q6FHM6 No chr22 42069937 42085296 41673933 41690492 +PA34611 10073 HGNC:14245 ENSG00000169371 snurportin 1 SNUPN RNUT1, SNURPORTIN-1, Snurportin1 Yes No Ensembl:ENSG00000169371, GenAtlas:SNUPN, GeneCard:SNUPN, HGNC:HGNC:14245, HumanCyc Gene:HS09934, ModBase:O95149, NCBI Gene:10073, OMIM:607902, RefSeq DNA:NT_010194, RefSeq Protein:NP_001036046, RefSeq Protein:NP_001036053, RefSeq Protein:NP_005692, RefSeq RNA:NM_001042581, RefSeq RNA:NM_001042588, RefSeq RNA:NM_005701, UCSC Genome Browser:NM_005701, UniProtKB:O95149 No chr15 75890424 75918719 75598083 75626378 +PA36010 8926 HGNC:11171 ENSG00000273173 SNRPN upstream open reading frame SNURF SNRPN upstream reading frame Yes No Ensembl:ENSG00000273173, GenAtlas:SNURF, GeneCard:SNURF, HGNC:HGNC:11171, NCBI Gene:8926, RefSeq DNA:NG_002690, RefSeq DNA:NG_012958, RefSeq DNA:NT_026446, RefSeq Protein:NP_005669, RefSeq Protein:NP_073715, RefSeq RNA:NM_005678, RefSeq RNA:NM_022804, UCSC Genome Browser:NM_005678, UniProtKB:Q9Y675 No chr15 25200070 25223729 24954893 24978723 +PA145149067 727686 HGNC:29543 ENSG00000173954 SNRPN upstream reading frame-like SNURFL Yes No Ensembl:ENSG00000173954, GeneCard:SNURFL, HGNC:HGNC:29543, NCBI Gene:727686, RefSeq DNA:NG_005696, RefSeq DNA:NT_011786 No chrX 138444099 138444641 139361940 139362482 +PA134883977 22938 HGNC:16696 ENSG00000100603 SNW domain containing 1 SNW1 Bx42, FUN20, NCoA-62, PRPF45, Prp45, SKIIP, SKIP, SKIP1 Yes No Ensembl:ENSG00000100603, GeneCard:SNW1, HGNC:HGNC:16696, HumanCyc Gene:HS02121, ModBase:Q13573, NCBI Gene:22938, OMIM:603055, RefSeq DNA:NT_026437, RefSeq Protein:NP_036377, RefSeq RNA:NM_012245, UniProtKB:Q13573 No chr14 78183942 78227542 77717599 77761220 +PA36011 6642 HGNC:11172 ENSG00000028528 sorting nexin 1 SNX1 HsT17379, MGC8664, SNX1A, Vps5 Yes No Comparative Toxicogenomics Database:6642, Ensembl:ENSG00000028528, GenAtlas:SNX1, GeneCard:SNX1, HGNC:HGNC:11172, HumanCyc Gene:HS00465, ModBase:Q13596, NCBI Gene:6642, OMIM:601272, RefSeq DNA:NT_010194, RefSeq Protein:NP_003090, RefSeq Protein:NP_683758, RefSeq Protein:NP_690039, RefSeq RNA:NM_003099, RefSeq RNA:NM_148955, RefSeq RNA:NM_152826, UCSC Genome Browser:NM_003099, UniProtKB:A6NKH4, UniProtKB:Q13596 No chr15 64386275 64436433 64094071 64144234 +PA37950 29887 HGNC:14974 ENSG00000086300 sorting nexin 10 SNX10 Yes No Comparative Toxicogenomics Database:29887, Ensembl:ENSG00000086300, GenAtlas:SNX10, GeneCard:SNX10, HGNC:HGNC:14974, HumanCyc Gene:HS01529, ModBase:Q9Y5X0, NCBI Gene:29887, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001186764, RefSeq Protein:NP_001186766, RefSeq Protein:NP_001186767, RefSeq Protein:NP_037454, RefSeq RNA:NM_001199835, RefSeq RNA:NM_001199837, RefSeq RNA:NM_001199838, RefSeq RNA:NM_013322, RefSeq RNA:NR_037670, UCSC Genome Browser:NM_013322, UniProtKB:Q8N5Z3, UniProtKB:Q9Y5X0 No chr7 26331515 26413949 26291895 26374330 +PA37951 29916 HGNC:14975 ENSG00000002919 sorting nexin 11 SNX11 Yes No Ensembl:ENSG00000002919, GenAtlas:SNX11, GeneCard:SNX11, HGNC:HGNC:14975, HumanCyc Gene:HS00088, ModBase:Q9Y5W9, NCBI Gene:29916, RefSeq DNA:NT_010783, RefSeq Protein:NP_037455, RefSeq Protein:NP_689450, RefSeq RNA:NM_013323, RefSeq RNA:NM_152244, UCSC Genome Browser:NM_013323, UniProtKB:Q9Y5W9 No chr17 46184911 46200109 48107533 48123064 +PA37952 29934 HGNC:14976 ENSG00000147164 sorting nexin 12 SNX12 Yes No Comparative Toxicogenomics Database:29934, Ensembl:ENSG00000147164, GenAtlas:SNX12, GeneCard:SNX12, HGNC:HGNC:14976, HumanCyc Gene:HS07404, ModBase:Q9UMY4, NCBI Gene:29934, RefSeq DNA:NT_011669, RefSeq Protein:NP_037478, RefSeq RNA:NM_013346, UCSC Genome Browser:NM_013346, UniProtKB:Q3SYF1, UniProtKB:Q9UMY4 No chrX 70207156 70293276 71059247 71073426 +PA129697240 23161 HGNC:21335 ENSG00000071189 sorting nexin 13 SNX13 KIAA0713, RGS-PX1 Yes No Comparative Toxicogenomics Database:23161, Ensembl:ENSG00000071189, GeneCard:SNX13, HGNC:HGNC:21335, HumanCyc Gene:HS01027, ModBase:Q9Y5W8, NCBI Gene:23161, OMIM:606589, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_055947, RefSeq RNA:NM_015132, UniProtKB:Q86XC4, UniProtKB:Q9Y5W8 No chr7 17830385 17980141 17790761 17940518 +PA129840867 57231 HGNC:14977 ENSG00000135317 sorting nexin 14 SNX14 RGS-PX2 Yes No Comparative Toxicogenomics Database:57231, Ensembl:ENSG00000135317, GeneCard:SNX14, HGNC:HGNC:14977, HumanCyc Gene:HS05980, ModBase:Q9Y5W7, NCBI Gene:57231, RefSeq DNA:NT_007299, RefSeq Protein:NP_065201, RefSeq Protein:NP_722523, RefSeq RNA:NM_020468, RefSeq RNA:NM_153816, UniProtKB:Q9Y5W7 No chr6 86215214 86303850 85505496 85594156 +PA37953 29907 HGNC:14978 ENSG00000110025 sorting nexin 15 SNX15 Yes No Ensembl:ENSG00000110025, GenAtlas:SNX15, GeneCard:SNX15, HGNC:HGNC:14978, HumanCyc Gene:HS03277, ModBase:Q9NRS6, NCBI Gene:29907, OMIM:605964, RefSeq DNA:NT_167190, RefSeq Protein:NP_037438, RefSeq Protein:NP_680086, RefSeq RNA:NM_013306, RefSeq RNA:NM_147777, UCSC Genome Browser:NM_013306, UniProtKB:Q9NRS6 No chr11 64794880 64808044 65027408 65040572 +PA134972049 64089 HGNC:14980 ENSG00000104497 sorting nexin 16 SNX16 Yes No Comparative Toxicogenomics Database:64089, Ensembl:ENSG00000104497, GeneCard:SNX16, HGNC:HGNC:14980, HumanCyc Gene:HS02588, ModBase:P57768, NCBI Gene:64089, RefSeq DNA:NT_008183, RefSeq Protein:NP_071416, RefSeq Protein:NP_690049, RefSeq Protein:NP_690050, RefSeq RNA:NM_022133, RefSeq RNA:NM_152836, RefSeq RNA:NM_152837, UniProtKB:P57768, UniProtKB:Q658L0 No chr8 82711816 82754539 81799583 81842326 +PA37954 9784 HGNC:14979 ENSG00000115234 sorting nexin 17 SNX17 KIAA0064 Yes No Comparative Toxicogenomics Database:9784, Ensembl:ENSG00000115234, GenAtlas:SNX17, GeneCard:SNX17, HGNC:HGNC:14979, HumanCyc Gene:HS03853, ModBase:Q15036, NCBI Gene:9784, OMIM:605963, RefSeq DNA:NT_022184, RefSeq Protein:NP_055563, RefSeq RNA:NM_014748, UCSC Genome Browser:NM_014748, UniProtKB:Q15036 No chr2 27593363 27600400 27370496 27377533 +PA162404304 112574 HGNC:19245 ENSG00000178996 sorting nexin 18 SNX18 SH3PX2, SH3PXD3B, SNAG1 Yes No Ensembl:ENSG00000178996, GeneCard:SNX18, HGNC:HGNC:19245, HumanCyc Gene:HS11338, ModBase:Q96RF0, NCBI Gene:112574, RefSeq DNA:NT_006713, RefSeq Protein:NP_001096045, RefSeq Protein:NP_001138899, RefSeq Protein:NP_443102, RefSeq RNA:NM_001102575, RefSeq RNA:NM_001145427, RefSeq RNA:NM_052870, UniProtKB:B4E2B3, UniProtKB:Q96RF0 No chr5 53813589 53842416 54517759 54619249 +PA134904352 399979 HGNC:21532 ENSG00000120451 sorting nexin 19 SNX19 CHET8, KIAA0254 Yes No Comparative Toxicogenomics Database:399979, Ensembl:ENSG00000120451, GeneCard:SNX19, HGNC:HGNC:21532, ModBase:Q92543, NCBI Gene:399979, RefSeq DNA:NT_033899, RefSeq Protein:NP_055573, RefSeq RNA:NM_014758, UniProtKB:Q92543 No chr11 130745766 130786382 130866254 130916488 +PA134906794 378810 HGNC:16765 ENSG00000228184 sorting nexin 19 pseudogene 1 SNX19P1 Yes No Ensembl:ENSG00000228184, HGNC:HGNC:16765, NCBI Gene:378810, RefSeq DNA:NG_006946, RefSeq DNA:NT_011512 No chr21 14897424 14902332 13525103 13530011 +PA36012 6643 HGNC:11173 ENSG00000205302 sorting nexin 2 SNX2 Yes No Comparative Toxicogenomics Database:6643, Ensembl:ENSG00000205302, GenAtlas:SNX2, GeneCard:SNX2, HGNC:HGNC:11173, ModBase:O60749, NCBI Gene:6643, OMIM:605929, RefSeq DNA:NT_034772, RefSeq Protein:NP_003091, RefSeq RNA:NM_003100, UCSC Genome Browser:NM_003100, UniProtKB:B3KN57, UniProtKB:O60749 No chr5 122110691 122170234 122774996 122834539 +PA162404311 124460 HGNC:30390 ENSG00000167208 sorting nexin 20 SNX20 selectin ligand interactor cytoplasmic 1 SLIC-1, SLIC1 Yes No Ensembl:ENSG00000167208, GeneCard:SNX20, HGNC:HGNC:30390, HumanCyc Gene:HS15535, ModBase:Q7Z614, NCBI Gene:124460, OMIM:613281, RefSeq DNA:NT_010498, RefSeq Protein:NP_001138444, RefSeq Protein:NP_699168, RefSeq Protein:NP_878274, RefSeq RNA:NM_001144972, RefSeq RNA:NM_153337, RefSeq RNA:NM_182854, UniProtKB:Q7Z614 No chr16 50700211 50715264 50666300 50681353 +PA25703 90203 HGNC:16154 ENSG00000124104 sorting nexin family member 21 SNX21 C20orf161, SNX-L, dJ337O18.4 Yes No Ensembl:ENSG00000124104, GenAtlas:C20orf161, GeneCard:SNX21, HGNC:HGNC:16154, HumanCyc Gene:HS04713, ModBase:Q969T3, NCBI Gene:90203, RefSeq DNA:NT_011362, RefSeq Protein:NP_001036097, RefSeq Protein:NP_001036098, RefSeq Protein:NP_219489, RefSeq Protein:NP_690857, RefSeq RNA:NM_001042632, RefSeq RNA:NM_001042633, RefSeq RNA:NM_033421, RefSeq RNA:NM_152897, UCSC Genome Browser:NM_033421, UniProtKB:Q05DJ0, UniProtKB:Q5JZH5, UniProtKB:Q5JZH7, UniProtKB:Q8WUR6, UniProtKB:Q8WY78, UniProtKB:Q969T3 No chr20 44462256 44471914 45833418 45843275 +PA134897329 79856 HGNC:16315 ENSG00000157734 sorting nexin 22 SNX22 FLJ13952 Yes No Comparative Toxicogenomics Database:79856, Ensembl:ENSG00000157734, GeneCard:SNX22, HGNC:HGNC:16315, HumanCyc Gene:HS08237, ModBase:Q96L94, NCBI Gene:79856, RefSeq DNA:NT_010194, RefSeq Protein:NP_079074, RefSeq RNA:NM_024798, UniProtKB:Q96L94 No chr15 64443899 64449680 64151698 64157481 +PA134980773 28966 HGNC:21533 ENSG00000064652 sorting nexin 24 SNX24 SBBI31 Yes No Comparative Toxicogenomics Database:28966, Ensembl:ENSG00000064652, GeneCard:SNX24, HGNC:HGNC:21533, HumanCyc Gene:HS00811, ModBase:Q9Y343, NCBI Gene:28966, RefSeq DNA:NT_034772, RefSeq Protein:NP_054754, RefSeq RNA:NM_014035, UniProtKB:Q9Y343 No chr5 122181149 122347317 122845465 123029318 +PA134988505 83891 HGNC:21883 ENSG00000109762 sorting nexin 25 SNX25 SBBI31 Yes No Ensembl:ENSG00000109762, GeneCard:SNX25, HGNC:HGNC:21883, HumanCyc Gene:HS03257, ModBase:Q9H3E2, NCBI Gene:83891, RefSeq DNA:NT_016354, RefSeq Protein:NP_114159, RefSeq RNA:NM_031953, UniProtKB:B3KTI8, UniProtKB:Q9H3E2 No chr4 186130773 186285120 185204237 185363971 +PA134969143 81609 HGNC:20073 ENSG00000143376 sorting nexin 27 SNX27 sorting nexin family member 27 KIAA0488, MGC20471, MY014 Yes No Comparative Toxicogenomics Database:81609, Ensembl:ENSG00000143376, GeneCard:SNX27, HGNC:HGNC:20073, HumanCyc Gene:HS07041, ModBase:Q96D79, NCBI Gene:81609, OMIM:611541, RefSeq DNA:NT_004487, RefSeq Protein:NP_112180, RefSeq RNA:NM_030918, UniProtKB:Q96L92 No chr1 151584454 151671559 151612027 151699083 +PA162404312 92017 HGNC:30542 ENSG00000048471 sorting nexin 29 SNX29 FLJ12363, RUNDC2A Yes No Ensembl:ENSG00000048471, GeneCard:SNX29, HGNC:HGNC:30542, ModBase:Q8TEQ0, NCBI Gene:92017, RefSeq DNA:NT_010393, RefSeq Protein:NP_001073999, RefSeq Protein:NP_115543, RefSeq RNA:NM_001080530, RefSeq RNA:NM_032167, UniProtKB:Q8TEQ0 No chr16 12070602 12668146 11976734 12574289 +PA142670963 100652781 HGNC:31913 ENSG00000158482 sorting nexin 29 pseudogene 1 SNX29P1 Yes No Ensembl:ENSG00000158482, GeneCard:RUNDC2B, HGNC:HGNC:31913, ModBase:Q8IUI4, NCBI Gene:100652781, RefSeq DNA:NT_010393, RefSeq Protein:NP_001012391, RefSeq RNA:NM_001012391 No chr16 21360684 21397254 21349363 21385933 +PA142670964 440352 HGNC:31914 ENSG00000271699 sorting nexin 29 pseudogene 2 SNX29P2 Yes No Ensembl:ENSG00000271699, GeneCard:SNX29P2, HGNC:HGNC:31914, NCBI Gene:440352, RefSeq DNA:NT_010393, RefSeq RNA:NR_002939 No chr16 29313608 29376380 29302287 29365059 +PA36013 8724 HGNC:11174 ENSG00000112335 sorting nexin 3 SNX3 Grd19 Yes No Comparative Toxicogenomics Database:8724, Ensembl:ENSG00000112335, GenAtlas:SNX3, GeneCard:SNX3, HGNC:HGNC:11174, HumanCyc Gene:HS03561, ModBase:O60493, NCBI Gene:8724, OMIM:601349, OMIM:605930, RefSeq DNA:NG_023278, RefSeq DNA:NT_025741, RefSeq Protein:NP_003786, RefSeq Protein:NP_690040, RefSeq RNA:NM_003795, RefSeq RNA:NM_152827, UCSC Genome Browser:NM_003795, UniProtKB:O60493 No chr6 108532712 108582478 108211217 108261260 +PA142670889 401548 HGNC:23685 ENSG00000148158 sorting nexin family member 30 SNX30 ATG24A Yes No Comparative Toxicogenomics Database:401548, Ensembl:ENSG00000148158, GeneCard:SNX30, HGNC:HGNC:23685, ModBase:Q5VWJ9, NCBI Gene:401548, RefSeq DNA:NT_008470, RefSeq Protein:NP_001013012, RefSeq RNA:NM_001012994, UniProtKB:Q5VWJ9 No chr9 115511911 115637267 112750817 112875847 +PA162404313 169166 HGNC:28605 ENSG00000174226 sorting nexin 31 SNX31 MGC39715 Yes No Ensembl:ENSG00000174226, GeneCard:SNX31, HGNC:HGNC:28605, HumanCyc Gene:HS10776, NCBI Gene:169166, RefSeq DNA:NT_008046, RefSeq Protein:NP_689841, RefSeq RNA:NM_152628, UniProtKB:Q8N9S9 No chr8 101585110 101661893 100572882 100663410 +PA162404314 254122 HGNC:26423 ENSG00000172803 sorting nexin 32 SNX32 FLJ30934, SNX6B Yes No Ensembl:ENSG00000172803, GeneCard:SNX32, HGNC:HGNC:26423, HumanCyc Gene:HS10570, ModBase:Q86XE0, NCBI Gene:254122, RefSeq DNA:NT_167190, RefSeq Protein:NP_689973, RefSeq RNA:NM_152760, UniProtKB:Q86XE0 No chr11 65601305 65621578 65833636 65854687 +PA162404345 257364 HGNC:28468 ENSG00000173548 sorting nexin 33 SNX33 MGC32065, SH3PX3, SH3PXD3C, SNX30 Yes No Ensembl:ENSG00000173548, GeneCard:SNX33, HGNC:HGNC:28468, HumanCyc Gene:HS10689, ModBase:Q8WV41, NCBI Gene:257364, RefSeq DNA:NT_010194, RefSeq Protein:NP_695003, RefSeq RNA:NM_153271, UniProtKB:B1NM17, UniProtKB:Q8WV41 No chr15 75941348 75950968 75649007 75658627 +PA36014 8723 HGNC:11175 ENSG00000114520 sorting nexin 4 SNX4 ATG24B Yes No Comparative Toxicogenomics Database:8723, Ensembl:ENSG00000114520, GenAtlas:SNX4, GeneCard:SNX4, HGNC:HGNC:11175, HumanCyc Gene:HS03776, ModBase:O95219, NCBI Gene:8723, OMIM:605931, RefSeq DNA:NT_005612, RefSeq Protein:NP_003785, RefSeq RNA:NM_003794, UCSC Genome Browser:NM_003794, UniProtKB:O95219, UniProtKB:Q9H398 No chr3 125165488 125239058 125446644 125520214 +PA37945 27131 HGNC:14969 ENSG00000089006 sorting nexin 5 SNX5 Yes No Comparative Toxicogenomics Database:27131, Ensembl:ENSG00000089006, GenAtlas:SNX5, GeneCard:SNX5, HGNC:HGNC:14969, HumanCyc Gene:HS01622, ModBase:Q9Y5X3, NCBI Gene:27131, OMIM:605937, RefSeq DNA:NT_011387, RefSeq Protein:NP_055241, RefSeq Protein:NP_689413, RefSeq RNA:NM_014426, RefSeq RNA:NM_152227, UCSC Genome Browser:NM_014426, UniProtKB:Q9Y5X3 No chr20 17922244 17949490 17941596 17968991 +PA37946 58533 HGNC:14970 ENSG00000129515 sorting nexin 6 SNX6 Yes No Comparative Toxicogenomics Database:58533, Ensembl:ENSG00000129515, GenAtlas:SNX6, GeneCard:SNX6, HGNC:HGNC:14970, HumanCyc Gene:HS05288, ModBase:Q9UNH7, NCBI Gene:58533, OMIM:606098, RefSeq DNA:NT_026437, RefSeq Protein:NP_067072, RefSeq Protein:NP_689419, RefSeq RNA:NM_021249, RefSeq RNA:NM_152233, UCSC Genome Browser:NM_021249, UniProtKB:C0H5W9, UniProtKB:Q9UNH7 No chr14 35030615 35099366 34561409 34630160 +PA37947 51375 HGNC:14971 ENSG00000162627 sorting nexin 7 SNX7 Yes No Comparative Toxicogenomics Database:51375, Ensembl:ENSG00000162627, GenAtlas:SNX7, GeneCard:SNX7, HGNC:HGNC:14971, HumanCyc Gene:HS08708, ModBase:Q9UNH6, NCBI Gene:51375, RefSeq DNA:NT_032977, RefSeq Protein:NP_057060, RefSeq Protein:NP_689424, RefSeq RNA:NM_015976, RefSeq RNA:NM_152238, RefSeq RNA:NR_033716, UCSC Genome Browser:NM_015976, UniProtKB:Q9UNH6 No chr1 99127236 99226056 98661344 98760500 +PA37948 29886 HGNC:14972 ENSG00000106266 sorting nexin 8 SNX8 Mvp1 Yes No Ensembl:ENSG00000106266, GenAtlas:SNX8, GeneCard:SNX8, HGNC:HGNC:14972, HumanCyc Gene:HS02878, ModBase:Q9Y5X2, NCBI Gene:29886, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_037453, RefSeq RNA:NM_013321, UCSC Genome Browser:NM_013321, UniProtKB:Q9Y5X2 No chr7 2291405 2354099 2251770 2354481 +PA37949 51429 HGNC:14973 ENSG00000130340 sorting nexin 9 SNX9 SDP1, SH3PX1, SH3PXD3A Yes Yes Comparative Toxicogenomics Database:51429, Ensembl:ENSG00000130340, GenAtlas:SNX9, GeneCard:SNX9, HGNC:HGNC:14973, HumanCyc Gene:HS05373, ModBase:Q9Y5X1, NCBI Gene:51429, OMIM:605952, RefSeq DNA:NT_025741, RefSeq Protein:NP_057308, RefSeq RNA:NM_016224, UCSC Genome Browser:NM_016224, UniProtKB:Q9Y5X1 No chr6 158137078 158366109 157716046 157945077 +PA36015 6646 HGNC:11177 ENSG00000057252 sterol O-acyltransferase 1 SOAT1 acyl-Coenzyme A: cholesterol acyltransferase ACAT, ACAT1, SOAT, STAT Yes No Comparative Toxicogenomics Database:6646, Ensembl:ENSG00000057252, GenAtlas:SOAT1, GeneCard:SOAT1, HGNC:HGNC:11177, HumanCyc Gene:HS00706, ModBase:P35610, NCBI Gene:6646, OMIM:102642, RefSeq DNA:NT_004487, RefSeq Protein:NP_003092, RefSeq RNA:NM_003101, UCSC Genome Browser:NM_003101, UniProtKB:P35610 No chr1 179262849 179327815 179293714 179358680 +PA36016 8435 HGNC:11178 ENSG00000167780 sterol O-acyltransferase 2 SOAT2 acyl-Coenzyme A: cholesterol acyltransferase 2 ACAT2 Yes No Comparative Toxicogenomics Database:8435, Ensembl:ENSG00000167780, GenAtlas:SOAT2, GeneCard:SOAT2, HGNC:HGNC:11178, HumanCyc Gene:HS09636, ModBase:O75908, NCBI Gene:8435, OMIM:601311, RefSeq DNA:NT_029419, RefSeq Protein:NP_003569, RefSeq RNA:NM_003578, UCSC Genome Browser:NM_003578, UniProtKB:O75908 No chr12 53497274 53518323 53102437 53124539 +PA162404346 55084 HGNC:29256 ENSG00000112320 sine oculis binding protein homolog SOBP sine oculis binding protein homolog (Drosophila) FLJ10159 Yes No Ensembl:ENSG00000112320, GeneCard:SOBP, HGNC:HGNC:29256, HumanCyc Gene:HS12770, ModBase:A7XYQ1, NCBI Gene:55084, RefSeq DNA:NT_025741, RefSeq Protein:NP_060483, RefSeq RNA:NM_018013, UniProtKB:A7XYQ1, UniProtKB:Q24K27 No chr6 107811317 107982513 107490104 107661309 +PA134863068 8651 HGNC:19383 ENSG00000185338 suppressor of cytokine signaling 1 SOCS1 Cish1, JAB, SOCS-1, SSI-1, TIP3 Yes No Comparative Toxicogenomics Database:8651, Ensembl:ENSG00000185338, GeneCard:SOCS1, HGNC:HGNC:19383, ModBase:O15524, NCBI Gene:8651, OMIM:603597, RefSeq DNA:NT_010393, RefSeq Protein:NP_003736, RefSeq RNA:NM_003745, UniProtKB:O15524, UniProtKB:Q4JHT5 No chr16 11348274 11350039 11254417 11256182 +PA128394542 8835 HGNC:19382 ENSG00000120833 suppressor of cytokine signaling 2 SOCS2 STAT-induced STAT inhibitor-2 CIS2, Cish2, SOCS-2, SSI-2, SSI2, STATI2 Yes No Comparative Toxicogenomics Database:8835, Ensembl:ENSG00000120833, GeneCard:SOCS2, HGNC:HGNC:19382, HumanCyc Gene:HS04440, ModBase:O14508, NCBI Gene:8835, OMIM:605117, RefSeq DNA:NT_029419, RefSeq Protein:NP_003868, RefSeq RNA:NM_003877, UCSC Genome Browser:NM_003877, UniProtKB:A8K3D1, UniProtKB:O14508 No chr12 93963598 93970521 93569822 93626236 +PA134947134 276719 HGNC:16069 ENSG00000237662 suppressor of cytokine signaling 2 pseudogene 1 SOCS2P1 Yes No Ensembl:ENSG00000237662, GeneCard:SOCS2P1, HGNC:HGNC:16069, NCBI Gene:276719, RefSeq DNA:NG_002411, RefSeq DNA:NT_011362 No chr20 31775198 31776099 33187392 33188293 +PA134940206 266701 HGNC:19330 ENSG00000224465 suppressor of cytokine signaling 2 pseudogene 2 SOCS2P2 Yes No Ensembl:ENSG00000224465, GeneCard:SOCS2P2, HGNC:HGNC:19330, NCBI Gene:266701, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22524349 22525988 22169956 22171602 +PA134885765 9021 HGNC:19391 ENSG00000184557 suppressor of cytokine signaling 3 SOCS3 CIS3, Cish3, SOCS-3, SSI-3 Yes Yes Comparative Toxicogenomics Database:9021, Ensembl:ENSG00000184557, GeneCard:SOCS3, HGNC:HGNC:19391, ModBase:O14543, NCBI Gene:9021, OMIM:604176, OMIM:605805, RefSeq DNA:NG_016851, RefSeq DNA:NT_010783, RefSeq Protein:NP_003946, RefSeq RNA:NM_003955, UniProtKB:O14543, UniProtKB:Q6FI39 No chr17 76352858 76356160 78356777 78360079 +PA164742477 122809 HGNC:19392 ENSG00000180008 suppressor of cytokine signaling 4 SOCS4 SOCS7 Yes No Ensembl:ENSG00000180008, GeneCard:SOCS4, HGNC:HGNC:19392, HumanCyc Gene:HS11439, ModBase:Q8WXH5, NCBI Gene:122809, RefSeq DNA:NT_026437, RefSeq Protein:NP_543143, RefSeq Protein:NP_955453, RefSeq RNA:NM_080867, RefSeq RNA:NM_199421, UniProtKB:Q5H9R6, UniProtKB:Q8WXH5 No chr14 55493844 55516207 55027126 55049489 +PA134884627 9655 HGNC:16852 ENSG00000171150 suppressor of cytokine signaling 5 SOCS5 CIS6, CISH6, Cish5, KIAA0671, SOCS-5 Yes No Comparative Toxicogenomics Database:9655, Ensembl:ENSG00000171150, GeneCard:SOCS5, HGNC:HGNC:16852, HumanCyc Gene:HS10258, ModBase:O75159, NCBI Gene:9655, OMIM:607094, RefSeq DNA:NT_022184, RefSeq Protein:NP_054730, RefSeq Protein:NP_659198, RefSeq RNA:NM_014011, RefSeq RNA:NM_144949, UniProtKB:O75159, UniProtKB:Q53SD4 No chr2 46926099 46989927 46698960 46762788 +PA134917653 9306 HGNC:16833 ENSG00000170677 suppressor of cytokine signaling 6 SOCS6 CIS4, Cish4, HSPC060, SOCS4, SSI4, STAI4, STATI4 Yes No Comparative Toxicogenomics Database:9306, Ensembl:ENSG00000170677, GeneCard:SOCS6, HGNC:HGNC:16833, HumanCyc Gene:HS10164, ModBase:O14544, NCBI Gene:9306, OMIM:605118, RefSeq DNA:NT_025028, RefSeq Protein:NP_004223, RefSeq RNA:NM_004232, UniProtKB:O14544 No chr18 67956137 67997435 70288901 70330199 +PA164742488 30837 HGNC:29846 ENSG00000274211 suppressor of cytokine signaling 7 SOCS7 """NCK-associated protein 4"", ""Nck, Ash and phospholipase C binding protein""" NAP4, NCKAP4 Yes No Ensembl:ENSG00000274211, GeneCard:SOCS7, HGNC:HGNC:29846, ModBase:O14512, NCBI Gene:30837, OMIM:608788, RefSeq DNA:NT_010783, RefSeq Protein:NP_055413, RefSeq RNA:NM_014598, UniProtKB:O14512 No chr17 36508007 36561846 38351876 38405593 +PA334 6647 HGNC:11179 ENSG00000142168 superoxide dismutase 1 SOD1 superoxide dismutase 1, soluble ALS, ALS1, IPOA Yes Yes Comparative Toxicogenomics Database:6647, Ensembl:ENSG00000142168, GenAtlas:SOD1, GeneCard:SOD1, HGNC:HGNC:11179, HumanCyc Gene:HS06899, ModBase:P00441, NCBI Gene:6647, OMIM:105400, OMIM:147450, RefSeq DNA:NG_008689, RefSeq DNA:NT_011512, RefSeq Protein:NP_000445, RefSeq RNA:NM_000454, UCSC Genome Browser:NM_000454, UniProtKB:P00441 No chr21 33031935 33041244 31659622 31668931 +PA36017 6648 HGNC:11180 ENSG00000112096 superoxide dismutase 2 SOD2 """gastric cancer–associated lncRNA 1"", ""manganese superoxide dismutase"", ""superoxide dismutase 2, mitochondrial""" GC1, GClnc1, IPOB, MnSOD Yes Yes Comparative Toxicogenomics Database:6648, Ensembl:ENSG00000112096, GenAtlas:SOD2, GeneCard:SOD2, HGNC:HGNC:11180, HumanCyc Gene:HS03515, ModBase:P04179, NCBI Gene:6648, OMIM:147460, OMIM:612634, RefSeq DNA:NG_008729, RefSeq DNA:NT_025741, RefSeq Protein:NP_000627, RefSeq Protein:NP_001019636, RefSeq Protein:NP_001019637, RefSeq RNA:NM_000636, RefSeq RNA:NM_001024465, RefSeq RNA:NM_001024466, UCSC Genome Browser:NM_000636, UniProtKB:B4DL20, UniProtKB:P04179 No chr6 160100148 160114353 159679064 159762529 +PA36018 6649 HGNC:11181 ENSG00000109610 superoxide dismutase 3 SOD3 """Extracellular superoxide dismutase [Cu-Zn]"", ""superoxide dismutase 3, extracellular""" EC-SOD Yes Yes Comparative Toxicogenomics Database:6649, Ensembl:ENSG00000109610, GenAtlas:SOD3, GeneCard:SOD3, HGNC:HGNC:11181, HumanCyc Gene:HS03242, ModBase:P08294, NCBI Gene:6649, OMIM:185490, RefSeq DNA:NG_012213, RefSeq DNA:NT_006316, RefSeq Protein:NP_003093, RefSeq RNA:NM_003102, UCSC Genome Browser:NM_003102, UniProtKB:P08294 No chr4 24797085 24802467 24795463 24800845 +PA134899168 402381 HGNC:27845 ENSG00000165643 spermatogenesis and oogenesis specific basic helix-loop-helix 1 SOHLH1 spermatogenesis associated 27 C9orf157, NOHLH, SPATA27, TEB2, bA100C15.3, bHLHe80 Yes No Ensembl:ENSG00000165643, GeneCard:SOHLH1, HGNC:HGNC:27845, ModBase:Q5JUK2, NCBI Gene:402381, OMIM:610224, RefSeq DNA:NT_019501, RefSeq Protein:NP_001012415, RefSeq Protein:NP_001095147, RefSeq RNA:NM_001012415, RefSeq RNA:NM_001101677, UniProtKB:Q5JUK2 No chr9 138585253 138591374 135691862 135701316 +PA144596273 54937 HGNC:26026 ENSG00000120669 spermatogenesis and oogenesis specific basic helix-loop-helix 2 SOHLH2 spermatogenesis associated 28 FLJ20449, SPATA28, TEB1, bHLHe81 Yes No Ensembl:ENSG00000120669, GeneCard:SOHLH2, HGNC:HGNC:26026, HumanCyc Gene:HS12279, ModBase:Q9NX45, NCBI Gene:54937, RefSeq DNA:NT_024524, RefSeq Protein:NP_060296, RefSeq RNA:NM_017826, UniProtKB:Q9NX45 No chr13 36742345 36788752 36168208 36214615 +PA36020 6651 HGNC:11183 ENSG00000159140 SON DNA and RNA binding protein SON Bax antagonist selected in Saccharomyces 1, NRE-binding protein, SON DNA binding protein, negative regulatory element-binding protein BASS1, C21orf50, DBP-5, FLJ21099, FLJ33914, KIAA1019, NREBP Yes No Comparative Toxicogenomics Database:6651, Ensembl:ENSG00000159140, GenAtlas:SON, GeneCard:SON, HGNC:HGNC:11183, HumanCyc Gene:HS08359, ModBase:Q9UPY0, NCBI Gene:6651, OMIM:182465, RefSeq DNA:NT_011512, RefSeq Protein:NP_115571, RefSeq Protein:NP_620305, RefSeq RNA:NM_032195, RefSeq RNA:NM_138927, UCSC Genome Browser:NM_003103, UniProtKB:P18583 No chr21 34915344 34949820 33543038 33577514 +PA37899 10580 HGNC:14565 ENSG00000095637 sorbin and SH3 domain containing 1 SORBS1 c-Cbl-associated protein CAP, FLJ12406, KIAA1296, SH3D5, ponsin, sh3p12 Yes No Comparative Toxicogenomics Database:10580, Ensembl:ENSG00000095637, GenAtlas:SORBS1, GeneCard:SORBS1, HGNC:HGNC:14565, HumanCyc Gene:HS01830, NCBI Gene:10580, OMIM:605264, RefSeq DNA:NT_030059, RefSeq Protein:NP_001030126, RefSeq Protein:NP_001030127, RefSeq Protein:NP_001030128, RefSeq Protein:NP_001030129, RefSeq Protein:NP_006425, RefSeq Protein:NP_056200, RefSeq Protein:NP_079267, RefSeq RNA:NM_001034954, RefSeq RNA:NM_001034955, RefSeq RNA:NM_001034956, RefSeq RNA:NM_001034957, RefSeq RNA:NM_006434, RefSeq RNA:NM_015385, RefSeq RNA:NM_024991, UCSC Genome Browser:NM_006434, UniProtKB:Q9BX66 No chr10 97071530 97321171 95311773 95561420 +PA142670890 8470 HGNC:24098 ENSG00000154556 sorbin and SH3 domain containing 2 SORBS2 Arg/Abl interacting protein ARGBP2, KIAA0777 Yes No Comparative Toxicogenomics Database:8470, Ensembl:ENSG00000154556, GeneCard:SORBS2, HGNC:HGNC:24098, HumanCyc Gene:HS07988, ModBase:O94875, NCBI Gene:8470, RefSeq DNA:NT_016354, RefSeq Protein:NP_001139142, RefSeq Protein:NP_001139143, RefSeq Protein:NP_001139144, RefSeq Protein:NP_001139145, RefSeq Protein:NP_001139146, RefSeq Protein:NP_001139147, RefSeq Protein:NP_003594, RefSeq Protein:NP_066547, RefSeq RNA:NM_001145670, RefSeq RNA:NM_001145671, RefSeq RNA:NM_001145672, RefSeq RNA:NM_001145673, RefSeq RNA:NM_001145674, RefSeq RNA:NM_001145675, RefSeq RNA:NM_003603, RefSeq RNA:NM_021069, UniProtKB:B3KPQ7, UniProtKB:B7Z1G5, UniProtKB:B7Z3X6, UniProtKB:B7Z997, UniProtKB:O94875 No chr4 186506598 186877870 185585444 185956716 +PA128394570 10174 HGNC:30907 ENSG00000120896 sorbin and SH3 domain containing 3 SORBS3 SCAM-1, SH3D4, vinexin Yes No Comparative Toxicogenomics Database:10174, Ensembl:ENSG00000120896, GeneCard:SORBS3, HGNC:HGNC:30907, HumanCyc Gene:HS04446, ModBase:O60504, NCBI Gene:10174, OMIM:610795, RefSeq DNA:NT_167187, RefSeq Protein:NP_001018003, RefSeq Protein:NP_005766, RefSeq RNA:NM_001018003, RefSeq RNA:NM_005775, UCSC Genome Browser:NM_005775, UniProtKB:O60504, UniProtKB:Q96FY4 No chr8 22402228 22433008 22544990 22575495 +PA134861284 114815 HGNC:16697 ENSG00000108018 sortilin related VPS10 domain containing receptor 1 SORCS1 sortilin-related VPS10 domain containing receptor 1 sorCS1 Yes Yes Ensembl:ENSG00000108018, GeneCard:SORCS1, HGNC:HGNC:16697, HumanCyc Gene:HS03057, ModBase:Q9H1Y2, NCBI Gene:114815, OMIM:606283, RefSeq DNA:NT_030059, RefSeq Protein:NP_001013049, RefSeq Protein:NP_001193498, RefSeq Protein:NP_001193499, RefSeq Protein:NP_001193500, RefSeq Protein:NP_001193501, RefSeq Protein:NP_443150, RefSeq RNA:NM_001013031, RefSeq RNA:NM_001206569, RefSeq RNA:NM_001206570, RefSeq RNA:NM_001206571, RefSeq RNA:NM_001206572, RefSeq RNA:NM_052918, UniProtKB:B3KVZ0, UniProtKB:B3KWN9, UniProtKB:Q8WY21 No chr10 108333421 108924466 106573663 107181138 +PA134902026 57537 HGNC:16698 ENSG00000184985 sortilin related VPS10 domain containing receptor 2 SORCS2 sortilin-related VPS10 domain containing receptor 2 KIAA1329 Yes Yes Ensembl:ENSG00000184985, GeneCard:SORCS2, HGNC:HGNC:16698, ModBase:Q96PQ0, NCBI Gene:57537, OMIM:606284, RefSeq DNA:NT_006051, RefSeq Protein:NP_065828, RefSeq RNA:NM_020777, UniProtKB:Q96PQ0 No chr4 7194374 7744564 7192607 7742837 +PA134949387 22986 HGNC:16699 ENSG00000156395 sortilin related VPS10 domain containing receptor 3 SORCS3 sortilin-related VPS10 domain containing receptor 3 KIAA1059, SORCS Yes No Ensembl:ENSG00000156395, GeneCard:SORCS3, HGNC:HGNC:16699, ModBase:Q9UPU3, NCBI Gene:22986, OMIM:606285, RefSeq DNA:NT_030059, RefSeq Protein:NP_055793, RefSeq RNA:NM_014978, UniProtKB:Q9UPU3 No chr10 106400859 107024993 104641101 105265242 +PA36021 6652 HGNC:11184 ENSG00000140263 sorbitol dehydrogenase SORD Yes No Comparative Toxicogenomics Database:6652, Ensembl:ENSG00000140263, GenAtlas:SORD, GeneCard:SORD, HGNC:HGNC:11184, HumanCyc Gene:HS06691, ModBase:Q00796, NCBI Gene:6652, OMIM:182500, RefSeq DNA:NT_010194, RefSeq Protein:NP_003095, RefSeq RNA:NM_003104, RefSeq RNA:NR_034039, UCSC Genome Browser:NM_003104, UniProtKB:Q00796 No chr15 45315302 45367287 45023104 45075089 +PA36022 6653 HGNC:11185 ENSG00000137642 sortilin related receptor 1 SORL1 """LDLR relative with 11 ligand-binding repeats"", ""sortilin-related receptor, L(DLR class) A repeats containing""" C11orf32, LR11, LRP9, SorLA, SorLA-1, gp250 Yes No Comparative Toxicogenomics Database:6653, Ensembl:ENSG00000137642, GenAtlas:SORL1, GeneCard:SORL1, HGNC:HGNC:11185, HumanCyc Gene:HS06368, ModBase:Q92673, NCBI Gene:6653, OMIM:104300, OMIM:602005, RefSeq DNA:NG_023313, RefSeq DNA:NT_033899, RefSeq Protein:NP_003096, RefSeq RNA:NM_003105, UCSC Genome Browser:NM_003105, UniProtKB:Q92673 No chr11 121322912 121504471 121452203 121633762 +PA36023 6272 HGNC:11186 ENSG00000134243 sortilin 1 SORT1 Gp95, NT3 Yes Yes Comparative Toxicogenomics Database:6272, Ensembl:ENSG00000134243, GenAtlas:SORT1, GeneCard:SORT1, HGNC:HGNC:11186, HumanCyc Gene:HS05838, ModBase:Q99523, NCBI Gene:6272, OMIM:602458, RefSeq DNA:NT_032977, RefSeq Protein:NP_001192157, RefSeq Protein:NP_002950, RefSeq RNA:NM_001205228, RefSeq RNA:NM_002959, UCSC Genome Browser:NM_002959, UniProtKB:Q99523 No chr1 109852187 109940563 109309565 109397945 +PA36024 6654 HGNC:11187 ENSG00000115904 SOS Ras/Rac guanine nucleotide exchange factor 1 SOS1 son of sevenless homolog 1 (Drosophila) GF1, GINGF, HGF Yes No Comparative Toxicogenomics Database:6654, Ensembl:ENSG00000115904, GenAtlas:SOS1, GeneCard:SOS1, HGNC:HGNC:11187, HumanCyc Gene:HS03951, ModBase:Q07889, NCBI Gene:6654, OMIM:135300, OMIM:163955, OMIM:182530, OMIM:610733, RefSeq DNA:NG_007530, RefSeq DNA:NT_022184, RefSeq Protein:NP_005624, RefSeq RNA:NM_005633, UCSC Genome Browser:NM_005633, UniProtKB:Q07889 No chr2 39208690 39347686 38981549 39124959 +PA36025 6655 HGNC:11188 ENSG00000100485 SOS Ras/Rho guanine nucleotide exchange factor 2 SOS2 son of sevenless homolog 2 (Drosophila) Yes No Comparative Toxicogenomics Database:6655, Ensembl:ENSG00000100485, GenAtlas:SOS2, GeneCard:SOS2, HGNC:HGNC:11188, HumanCyc Gene:HS02096, ModBase:Q07890, NCBI Gene:6655, OMIM:601247, RefSeq DNA:NT_026437, RefSeq Protein:NP_008870, RefSeq RNA:NM_006939, UniProtKB:Q07890 No chr14 50583846 50698596 50117128 50231381 +PA37809 50964 HGNC:13771 ENSG00000167941 sclerostin SOST DAND6, VBCH Yes Yes Comparative Toxicogenomics Database:50964, Ensembl:ENSG00000167941, GenAtlas:SOST, GeneCard:SOST, HGNC:HGNC:13771, HumanCyc Gene:HS09663, ModBase:Q9BQB4, NCBI Gene:50964, OMIM:239100, OMIM:269500, OMIM:605740, RefSeq DNA:NG_008078, RefSeq DNA:NT_010783, RefSeq Protein:NP_079513, RefSeq RNA:NM_025237, UCSC Genome Browser:NM_025237, UniProtKB:Q9BQB4 No chr17 41831099 41836156 43753731 43758788 +PA134937603 25928 HGNC:21748 ENSG00000171243 sclerostin domain containing 1 SOSTDC1 ectodin, wise DAND7, DKFZp564D206, USAG1 Yes No Comparative Toxicogenomics Database:25928, Ensembl:ENSG00000171243, GeneCard:SOSTDC1, HGNC:HGNC:21748, HumanCyc Gene:HS15969, ModBase:Q6X4U4, NCBI Gene:25928, OMIM:609675, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_056279, RefSeq RNA:NM_015464, UniProtKB:A4D125, UniProtKB:Q6X4U4 No chr7 16501106 16505562 16461481 16496513 +PA142672610 134548 HGNC:27033 ENSG00000198944 sosondowah ankyrin repeat domain family member A SOWAHA ANKRD43 Yes No Comparative Toxicogenomics Database:134548, Ensembl:ENSG00000198944, GeneCard:ANKRD43, HGNC:HGNC:27033, NCBI Gene:134548, RefSeq DNA:NT_034772, RefSeq Protein:NP_787069, RefSeq RNA:NM_175873, UniProtKB:Q2M3V2 No chr5 132149033 132152489 132813324 132816797 +PA145149864 345079 HGNC:32958 ENSG00000186212 sosondowah ankyrin repeat domain family member B SOWAHB ANKRD56 Yes No Comparative Toxicogenomics Database:345079, Ensembl:ENSG00000186212, GeneCard:ANKRD56, HGNC:HGNC:32958, ModBase:A6NEL2, NCBI Gene:345079, RefSeq DNA:NT_016354, RefSeq Protein:NP_001025041, RefSeq RNA:NM_001029870, UniProtKB:A6NEL2 No chr4 77816082 77819002 76894929 76897849 +PA134882354 65124 HGNC:26149 ENSG00000198142 sosondowah ankyrin repeat domain family member C SOWAHC ANKRD57, C2orf26, FLJ21870 Yes No Ensembl:ENSG00000198142, GeneCard:ANKRD57, HGNC:HGNC:26149, ModBase:Q53LP3, NCBI Gene:65124, RefSeq DNA:NT_022135, RefSeq Protein:NP_075392, RefSeq RNA:NM_023016, UniProtKB:Q53LP3 No chr2 110371911 110376564 109614334 109618987 +PA145149865 347454 HGNC:32960 ENSG00000187808 sosondowah ankyrin repeat domain family member D SOWAHD ANKRD58 Yes No Ensembl:ENSG00000187808, GeneCard:ANKRD58, HGNC:HGNC:32960, ModBase:A6NJG2, NCBI Gene:347454, RefSeq DNA:NT_011786, RefSeq Protein:NP_001099046, RefSeq RNA:NM_001105576, UniProtKB:A6NJG2 No chrX 118892576 118894165 119758613 119760202 +PA36026 6656 HGNC:11189 ENSG00000182968 SRY-box transcription factor 1 SOX1 SRY (sex determining region Y)-box 1, SRY-box 1, SRY-related HMG-box gene 1 Yes No Ensembl:ENSG00000182968, GenAtlas:SOX1, GeneCard:SOX1, HGNC:HGNC:11189, ModBase:O00570, NCBI Gene:6656, OMIM:602148, RefSeq DNA:NT_027140, RefSeq Protein:NP_005977, RefSeq RNA:NM_005986, UCSC Genome Browser:NM_005986, UniProtKB:O00570 No chr13 112721913 112726020 112067599 112071706 +PA36027 6663 HGNC:11190 ENSG00000100146 SRY-box transcription factor 10 SOX10 """SRY (sex determining region Y)-box 10"", ""SRY-box 10"", ""dominant megacolon, mouse, human homolog of""" DOM, SOX-10, WS2E, WS4 Yes Yes Comparative Toxicogenomics Database:6663, Ensembl:ENSG00000100146, GenAtlas:SOX10, GeneCard:SOX10, HGNC:HGNC:11190, HumanCyc Gene:HS01987, ModBase:P56693, NCBI Gene:6663, OMIM:277580, OMIM:601706, OMIM:602229, OMIM:609136, OMIM:611584, OMIM:613266, RefSeq DNA:NG_007948, RefSeq DNA:NT_011520, RefSeq Protein:NP_008872, RefSeq RNA:NM_006941, UCSC Genome Browser:NM_006941, UniProtKB:P56693 No chr22 38368319 38380556 37972312 37984532 +PA36028 6664 HGNC:11191 ENSG00000176887 SRY-box transcription factor 11 SOX11 SRY (sex determining region Y)-box 11, SRY-box 11, SRY-related HMG-box gene 11 Yes No Comparative Toxicogenomics Database:6664, Ensembl:ENSG00000176887, GenAtlas:SOX11, GeneCard:SOX11, HGNC:HGNC:11191, HumanCyc Gene:HS11095, ModBase:P35716, NCBI Gene:6664, OMIM:600898, RefSeq DNA:NT_005334, RefSeq Protein:NP_003099, RefSeq RNA:NM_003108, UCSC Genome Browser:NM_003108, UniProtKB:P35716 No chr2 5832799 5841517 5692667 5701385 +PA36035 6666 HGNC:11198 ENSG00000177732 SRY-box transcription factor 12 SOX12 SRY (sex determining region Y)-box 12, SRY-box 12 SOX22 Yes No Ensembl:ENSG00000177732, GenAtlas:SOX12, GeneCard:SOX12, HGNC:HGNC:11198, HumanCyc Gene:HS11211, ModBase:O15370, NCBI Gene:6666, OMIM:601947, RefSeq DNA:NT_011387, RefSeq Protein:NP_008874, RefSeq RNA:NM_006943, UCSC Genome Browser:NM_006943, UniProtKB:O15370 No chr20 306215 310872 325571 330228 +PA36029 9580 HGNC:11192 ENSG00000143842 SRY-box transcription factor 13 SOX13 SRY (sex determining region Y)-box 13, SRY-box 13, SRY-related HMG-box gene 13, islet cell antibody 12, type 1 diabetes autoantigen ICA12, MGC117216, Sox-13 Yes No Comparative Toxicogenomics Database:9580, Ensembl:ENSG00000143842, GenAtlas:SOX13, GeneCard:SOX13, HGNC:HGNC:11192, HumanCyc Gene:HS07114, ModBase:Q9UN79, NCBI Gene:9580, OMIM:604748, RefSeq DNA:NT_004487, RefSeq Protein:NP_005677, RefSeq RNA:NM_005686, UCSC Genome Browser:NM_005686, UniProtKB:Q9UN79 No chr1 204042237 204096871 204073096 204127743 +PA36030 8403 HGNC:11193 ENSG00000168875 SRY-box transcription factor 14 SOX14 HMG box transcription factor SOX-14, SRY (sex determining region Y)-box 14, SRY-box 14 SOX28 Yes No Comparative Toxicogenomics Database:8403, Ensembl:ENSG00000168875, GenAtlas:SOX14, GeneCard:SOX14, HGNC:HGNC:11193, HumanCyc Gene:HS09841, ModBase:O95416, NCBI Gene:8403, OMIM:604747, RefSeq DNA:NT_005612, RefSeq Protein:NP_004180, RefSeq RNA:NM_004189, UCSC Genome Browser:NM_004189, UniProtKB:O95416 No chr3 137483134 137485176 137764292 137766334 +PA36033 6665 HGNC:11196 ENSG00000129194 SRY-box transcription factor 15 SOX15 SRY (sex determining region Y)-box 15, SRY-box 15 SOX20, SOX26, SOX27 Yes No Ensembl:ENSG00000129194, GenAtlas:SOX15, GeneCard:SOX15, HGNC:HGNC:11196, HumanCyc Gene:HS05253, ModBase:O60248, NCBI Gene:6665, OMIM:601297, RefSeq DNA:NT_010718, RefSeq Protein:NP_008873, RefSeq RNA:NM_006942, UCSC Genome Browser:NM_006942, UniProtKB:O60248 No chr17 7491496 7494037 7588180 7590170 +PA38296 64321 HGNC:18122 ENSG00000164736 SRY-box transcription factor 17 SOX17 SRY (sex determining region Y)-box 17, SRY-box 17 Yes No Comparative Toxicogenomics Database:64321, Ensembl:ENSG00000164736, GenAtlas:SOX17, GeneCard:SOX17, HGNC:HGNC:18122, HumanCyc Gene:HS09126, ModBase:Q9H6I2, NCBI Gene:64321, OMIM:610928, RefSeq DNA:NT_008183, RefSeq Protein:NP_071899, RefSeq RNA:NM_022454, UCSC Genome Browser:NM_022454, UniProtKB:Q9H6I2 No chr8 55370495 55373456 54457935 54460896 +PA36031 54345 HGNC:11194 ENSG00000203883 SRY-box transcription factor 18 SOX18 SRY (sex determining region Y)-box 18, SRY-box 18 Yes No Comparative Toxicogenomics Database:54345, Ensembl:ENSG00000203883, GenAtlas:SOX18, GeneCard:SOX18, HGNC:HGNC:11194, ModBase:P35713, NCBI Gene:54345, OMIM:601618, OMIM:607823, RefSeq DNA:NG_008095, RefSeq DNA:NT_011333, RefSeq Protein:NP_060889, RefSeq RNA:NM_018419, UCSC Genome Browser:NM_018419, UniProtKB:P35713 No chr20 62679079 62680979 64047726 64049626 +PA36032 6657 HGNC:11195 ENSG00000181449 SRY-box transcription factor 2 SOX2 SRY (sex determining region Y)-box 2, SRY-box 2 Yes No Comparative Toxicogenomics Database:6657, Ensembl:ENSG00000181449, GenAtlas:SOX2, GeneCard:SOX2, HGNC:HGNC:11195, HumanCyc Gene:HS11619, ModBase:P48431, NCBI Gene:6657, OMIM:184429, OMIM:206900, RefSeq DNA:NG_009080, RefSeq DNA:NT_005612, RefSeq Protein:NP_003097, RefSeq RNA:NM_003106, UCSC Genome Browser:NM_003106, UniProtKB:P48431 No chr3 181429712 181432224 181711924 181714436 +PA36034 11166 HGNC:11197 ENSG00000125285 SRY-box transcription factor 21 SOX21 SRY (sex determining region Y)-box 21, SRY-box 21 SOX25 Yes No Comparative Toxicogenomics Database:11166, Ensembl:ENSG00000125285, GenAtlas:SOX21, GeneCard:SOX21, HGNC:HGNC:11197, HumanCyc Gene:HS04868, ModBase:Q9Y651, NCBI Gene:11166, OMIM:604974, RefSeq DNA:NT_009952, RefSeq Protein:NP_009015, RefSeq RNA:NM_007084, UCSC Genome Browser:NM_007084, UniProtKB:Q9Y651 No chr13 95361876 95364389 94709622 94712543 +PA134874116 347689 HGNC:20209 ENSG00000242808 SOX2 overlapping transcript (non-protein coding) SOX2-OT non-protein coding RNA 43 DKFZp761J1324, NCRNA00043 Yes No Ensembl:ENSG00000242808, GeneCard:SOX2OT, HGNC:HGNC:20209, NCBI Gene:347689, RefSeq DNA:NT_005612, RefSeq RNA:NR_004053 No chr3 180774468 181460016 181056680 181742228 +PA36036 6658 HGNC:11199 ENSG00000134595 SRY-box transcription factor 3 SOX3 SRY (sex determining region Y)-box 3, SRY-box 3 PHP Yes No Comparative Toxicogenomics Database:6658, Ensembl:ENSG00000134595, GenAtlas:SOX3, GeneCard:SOX3, HGNC:HGNC:11199, HumanCyc Gene:HS05892, ModBase:P41225, NCBI Gene:6658, OMIM:300123, OMIM:312000, OMIM:313430, RefSeq DNA:NG_009387, RefSeq DNA:NT_011786, RefSeq Protein:NP_005625, RefSeq RNA:NM_005634, UCSC Genome Browser:NM_005634, UniProtKB:P41225 No chrX 139585152 139587225 140502987 140505060 +PA134876614 11063 HGNC:30635 ENSG00000039600 SRY-box transcription factor 30 SOX30 SRY (sex determining region Y)-box 30, SRY-box 30 Yes No Comparative Toxicogenomics Database:11063, Ensembl:ENSG00000039600, GeneCard:SOX30, HGNC:HGNC:30635, HumanCyc Gene:HS00543, ModBase:O94993, NCBI Gene:11063, OMIM:606698, RefSeq DNA:NT_023133, RefSeq Protein:NP_008948, RefSeq Protein:NP_848511, RefSeq RNA:NM_007017, RefSeq RNA:NM_178424, UniProtKB:O94993 No chr5 157051804 157099138 157624796 157672081 +PA36037 6659 HGNC:11200 ENSG00000124766 SRY-box transcription factor 4 SOX4 SRY (sex determining region Y)-box 4, SRY-box 4 Yes No Comparative Toxicogenomics Database:6659, Ensembl:ENSG00000124766, GenAtlas:SOX4, GeneCard:SOX4, HGNC:HGNC:11200, HumanCyc Gene:HS04828, ModBase:Q06945, NCBI Gene:6659, OMIM:184430, RefSeq DNA:NT_007592, RefSeq Protein:NP_003098, RefSeq RNA:NM_003107, UCSC Genome Browser:NM_003107, UniProtKB:Q06945 No chr6 21593972 21598850 21593741 21598619 +PA36038 6660 HGNC:11201 ENSG00000134532 SRY-box transcription factor 5 SOX5 SRY (sex determining region Y)-box 5, SRY-box 5 L-SOX5, MGC35153 Yes No Comparative Toxicogenomics Database:6660, Ensembl:ENSG00000134532, GenAtlas:SOX5, GeneCard:SOX5, HGNC:HGNC:11201, HumanCyc Gene:HS05880, ModBase:Q8TEA4, NCBI Gene:6660, OMIM:604975, RefSeq DNA:NT_009714, RefSeq Protein:NP_008871, RefSeq Protein:NP_694534, RefSeq Protein:NP_821078, RefSeq RNA:NM_006940, RefSeq RNA:NM_152989, RefSeq RNA:NM_178010, UCSC Genome Browser:NM_006940, UniProtKB:P35711 No chr12 23682438 24715383 23529499 24562701 +PA38137 55553 HGNC:16421 ENSG00000110693 SRY-box transcription factor 6 SOX6 SRY (sex determining region Y)-box 6, SRY-box 6 Yes No Comparative Toxicogenomics Database:55553, Ensembl:ENSG00000110693, GenAtlas:SOX6, GeneCard:SOX6, HGNC:HGNC:16421, HumanCyc Gene:HS03326, ModBase:P35712, NCBI Gene:55553, OMIM:607257, RefSeq DNA:NG_012881, RefSeq DNA:NT_009237, RefSeq Protein:NP_001139283, RefSeq Protein:NP_001139291, RefSeq Protein:NP_059978, RefSeq Protein:NP_201583, RefSeq RNA:NM_001145811, RefSeq RNA:NM_001145819, RefSeq RNA:NM_017508, RefSeq RNA:NM_033326, UCSC Genome Browser:NM_033326, UniProtKB:P35712 No chr11 15987995 16497935 15966449 16476388 +PA38307 83595 HGNC:18196 ENSG00000171056 SRY-box transcription factor 7 SOX7 SRY (sex determining region Y)-box 7, SRY-box 7 Yes No Comparative Toxicogenomics Database:83595, Ensembl:ENSG00000171056, GenAtlas:SOX7, GeneCard:SOX7, HGNC:HGNC:18196, HumanCyc Gene:HS10237, ModBase:Q9BT81, NCBI Gene:83595, OMIM:612202, RefSeq DNA:NT_077531, RefSeq Protein:NP_113627, RefSeq RNA:NM_031439, UCSC Genome Browser:NM_031439, UniProtKB:Q9BT81 No chr8 10581278 10588084 10723768 10730574 +PA36040 30812 HGNC:11203 ENSG00000005513 SRY-box transcription factor 8 SOX8 SRY (sex determining region Y)-box 8, SRY-box 8 Yes No Ensembl:ENSG00000005513, GenAtlas:SOX8, GeneCard:SOX8, HGNC:HGNC:11203, HumanCyc Gene:HS00146, ModBase:P57073, NCBI Gene:30812, OMIM:605923, RefSeq DNA:NG_009933, RefSeq DNA:NT_010393, RefSeq Protein:NP_055402, RefSeq RNA:NM_014587, UCSC Genome Browser:NM_014587, UniProtKB:P57073 No chr16 1031808 1036979 981808 986979 +PA36041 6662 HGNC:11204 ENSG00000125398 SRY-box transcription factor 9 SOX9 SRY (sex determining region Y)-box 9, SRY-box 9 CMD1, CMPD1, SRA1 Yes No Comparative Toxicogenomics Database:6662, Ensembl:ENSG00000125398, GenAtlas:SOX9, GeneCard:SOX9, HGNC:HGNC:11204, HumanCyc Gene:HS04881, ModBase:P48436, NCBI Gene:6662, OMIM:114290, OMIM:608160, RefSeq DNA:NG_012490, RefSeq DNA:NT_010783, RefSeq Protein:NP_000337, RefSeq RNA:NM_000346, UCSC Genome Browser:NM_000346, UniProtKB:P48436 No chr17 70117161 70122561 72121020 72126420 +PA36042 6667 HGNC:11205 ENSG00000185591 Sp1 transcription factor SP1 specificity protein 1 Yes Yes Comparative Toxicogenomics Database:6667, Ensembl:ENSG00000185591, GenAtlas:SP1, GeneCard:SP1, HGNC:HGNC:11205, HumanCyc Gene:HS11584, ModBase:P08047, NCBI Gene:6667, OMIM:189906, RefSeq DNA:NT_029419, RefSeq Protein:NP_003100, RefSeq Protein:NP_612482, RefSeq RNA:NM_003109, RefSeq RNA:NM_138473, UniProtKB:P08047 No chr12 53773979 53810230 53380195 53416446 +PA36043 6672 HGNC:11206 ENSG00000067066 SP100 nuclear antigen SP100 Yes No Comparative Toxicogenomics Database:6672, Ensembl:ENSG00000067066, GenAtlas:SP100, GeneCard:SP100, HGNC:HGNC:11206, HumanCyc Gene:HS00896, ModBase:P23497, NCBI Gene:6672, OMIM:604585, RefSeq DNA:NT_005403, RefSeq Protein:NP_001073860, RefSeq Protein:NP_001193630, RefSeq Protein:NP_001193631, RefSeq Protein:NP_001193632, RefSeq Protein:NP_001193633, RefSeq Protein:NP_003104, RefSeq RNA:NM_001080391, RefSeq RNA:NM_001206701, RefSeq RNA:NM_001206702, RefSeq RNA:NM_001206703, RefSeq RNA:NM_001206704, RefSeq RNA:NM_003113, UCSC Genome Browser:NM_003113, UniProtKB:P23497, UniProtKB:Q68DS7, UniProtKB:Q6ZMK3 No chr2 231280871 231410317 230416156 230545602 +PA35104 3431 HGNC:5401 ENSG00000135899 SP110 nuclear body protein SP110 IFI41, IFI75 Yes No Comparative Toxicogenomics Database:3431, Ensembl:ENSG00000135899, GenAtlas:SP110, GeneCard:SP110, HGNC:HGNC:5401, HumanCyc Gene:HS06076, NCBI Gene:3431, OMIM:235550, OMIM:604457, OMIM:607948, RefSeq DNA:NG_008295, RefSeq DNA:NT_005403, RefSeq Protein:NP_001171944, RefSeq Protein:NP_004500, RefSeq Protein:NP_004501, RefSeq Protein:NP_536349, RefSeq RNA:NM_001185015, RefSeq RNA:NM_004509, RefSeq RNA:NM_004510, RefSeq RNA:NM_080424, UCSC Genome Browser:NM_004509, UniProtKB:Q9HB58 No chr2 231033634 231090444 230165466 230225729 +PA38205 11262 HGNC:17133 ENSG00000079263 SP140 nuclear body protein SP140 LYSP100-A, LYSP100-B Yes No Ensembl:ENSG00000079263, GenAtlas:SP140, GeneCard:SP140, HGNC:HGNC:17133, HumanCyc Gene:HS01317, ModBase:Q13342, NCBI Gene:11262, OMIM:608602, RefSeq DNA:NT_005403, RefSeq Protein:NP_001005176, RefSeq Protein:NP_009168, RefSeq RNA:NM_001005176, RefSeq RNA:NM_007237, UCSC Genome Browser:NM_007237, UniProtKB:B4DVW8, UniProtKB:Q13342, UniProtKB:Q6NSG4, UniProtKB:Q8IWJ1 No chr2 231090445 231177930 230202924 230316571 +PA164726206 93349 HGNC:25105 ENSG00000185404 SP140 nuclear body protein like SP140L SP140 nuclear body protein-like Yes No Ensembl:ENSG00000185404, GeneCard:SP140L, HGNC:HGNC:25105, HumanCyc Gene:HS08777, NCBI Gene:93349, RefSeq DNA:NT_005403, RefSeq Protein:NP_612411, RefSeq RNA:NM_138402, UniProtKB:Q9H930 No chr2 231191894 231268445 230327152 230407506 +PA36044 6668 HGNC:11207 ENSG00000167182 Sp2 transcription factor SP2 KIAA0048 Yes No Comparative Toxicogenomics Database:6668, Ensembl:ENSG00000167182, GenAtlas:SP2, GeneCard:SP2, HGNC:HGNC:11207, HumanCyc Gene:HS09520, ModBase:Q02086, NCBI Gene:6668, OMIM:601801, RefSeq DNA:NT_010783, RefSeq Protein:NP_003101, RefSeq RNA:NM_003110, UCSC Genome Browser:NM_003110, UniProtKB:Q02086 No chr17 45973516 46006323 47896032 47932271 +PA36045 6670 HGNC:11208 ENSG00000172845 Sp3 transcription factor SP3 SPR-2 Yes No Comparative Toxicogenomics Database:6670, Ensembl:ENSG00000172845, GenAtlas:SP3, GeneCard:SP3, HGNC:HGNC:11208, HumanCyc Gene:HS10581, ModBase:Q02447, NCBI Gene:6670, OMIM:601804, RefSeq DNA:NT_005403, RefSeq Protein:NP_001017371, RefSeq Protein:NP_001166183, RefSeq Protein:NP_003102, RefSeq RNA:NM_001017371, RefSeq RNA:NM_001172712, RefSeq RNA:NM_003111, UniProtKB:B7ZLN9, UniProtKB:Q02447, UniProtKB:Q59FX5, UniProtKB:Q86TP0 No chr2 174771187 174830430 173906459 173965702 +PA36046 6671 HGNC:11209 ENSG00000105866 Sp4 transcription factor SP4 HF1B, MGC130008, MGC130009, SPR-1 Yes No Comparative Toxicogenomics Database:6671, Ensembl:ENSG00000105866, GenAtlas:SP4, GeneCard:SP4, HGNC:HGNC:11209, HumanCyc Gene:HS02824, ModBase:Q02446, NCBI Gene:6671, OMIM:600540, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_003103, RefSeq RNA:NM_003112, UCSC Genome Browser:NM_003112, UniProtKB:Q02446 No chr7 21467689 21554440 21428071 21514761 +PA134875843 389058 HGNC:14529 ENSG00000204335 Sp5 transcription factor SP5 Yes No Comparative Toxicogenomics Database:389058, Ensembl:ENSG00000204335, GeneCard:SP5, HGNC:HGNC:14529, ModBase:Q6BEB4, NCBI Gene:389058, OMIM:609391, RefSeq DNA:NT_005403, RefSeq Protein:NP_001003845, RefSeq RNA:NM_001003845, UniProtKB:Q6BEB4 No chr2 171571857 171574498 170714725 170717988 +PA37892 80320 HGNC:14530 ENSG00000189120 Sp6 transcription factor SP6 epiprofin Epfn, KLF14 Yes No Ensembl:ENSG00000189120, GenAtlas:SP6, GeneCard:SP6, HGNC:HGNC:14530, ModBase:Q3SY56, NCBI Gene:80320, OMIM:608613, RefSeq DNA:NT_010783, RefSeq Protein:NP_954871, RefSeq RNA:NM_199262, UniProtKB:B3KXP2, UniProtKB:Q3SY56 No chr17 45922280 45933240 47844908 47876312 +PA134917046 121340 HGNC:17321 ENSG00000170374 Sp7 transcription factor SP7 OSX, osterix Yes No Comparative Toxicogenomics Database:121340, Ensembl:ENSG00000170374, GeneCard:SP7, HGNC:HGNC:17321, HumanCyc Gene:HS15873, ModBase:Q8TDD2, NCBI Gene:121340, OMIM:606633, RefSeq DNA:NG_023391, RefSeq DNA:NT_029419, RefSeq Protein:NP_001166938, RefSeq Protein:NP_690599, RefSeq RNA:NM_001173467, RefSeq RNA:NM_152860, UniProtKB:Q8TDD2 No chr12 53720359 53730167 53326575 53344793 +PA134893390 221833 HGNC:19196 ENSG00000164651 Sp8 transcription factor SP8 Yes No Ensembl:ENSG00000164651, GeneCard:SP8, HGNC:HGNC:19196, ModBase:Q8IXZ3, NCBI Gene:221833, OMIM:608306, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_874359, RefSeq Protein:NP_945194, RefSeq RNA:NM_182700, RefSeq RNA:NM_198956, UniProtKB:Q8IXZ3 No chr7 20821894 20826508 20782274 20786889 +PA164726207 100131390 HGNC:30690 ENSG00000217236 Sp9 transcription factor SP9 zinc finger protein 990 ZNF990 Yes No Ensembl:ENSG00000217236, GeneCard:SP9, HGNC:HGNC:30690, NCBI Gene:100131390, RefSeq DNA:NT_005403, RefSeq Protein:NP_001138722, RefSeq RNA:NM_001145250, UniProtKB:P0CG40 No chr2 175199769 175205859 174335093 174337540 +PA36047 53340 HGNC:11210 ENSG00000064199 sperm autoantigenic protein 17 SPA17 cancer/testis antigen 22 CT22, SP17 Yes No Comparative Toxicogenomics Database:53340, Ensembl:ENSG00000064199, GenAtlas:SPA17, GeneCard:SPA17, HGNC:HGNC:11210, HumanCyc Gene:HS00794, ModBase:Q15506, NCBI Gene:53340, OMIM:608621, RefSeq DNA:NT_033899, RefSeq Protein:NP_059121, RefSeq RNA:NM_017425, UCSC Genome Browser:NM_017425, UniProtKB:Q15506 No chr11 124543740 124564690 124673844 124694794 +PA134944772 171424 HGNC:23224 ENSG00000236797 sperm autoantigenic protein 17 pseudogene 1 SPA17P1 Sp17-2 Yes No Ensembl:ENSG00000236797, GeneCard:SPA17P1, HGNC:HGNC:23224, NCBI Gene:171424, RefSeq DNA:NG_001328, RefSeq DNA:NT_030059 No chr10 77141968 77142661 75382217 75382910 +PA166181655 158376 HGNC:27244 ENSG00000235387 small regulatory polypeptide of amino acid response SPAAR small regulatory polypeptide of amino acids response LINC00961, SPAR Yes No Ensembl:ENSG00000235387, HGNC:HGNC:27244, NCBI Gene:158376 No 0 0 0 0 +PA37943 81833 HGNC:14967 ENSG00000118434 sperm acrosome associated 1 SPACA1 SAMP32 Yes No Ensembl:ENSG00000118434, GenAtlas:SPACA1, GeneCard:SPACA1, HGNC:HGNC:14967, HumanCyc Gene:HS12915, ModBase:Q9HBV2, NCBI Gene:81833, OMIM:612739, RefSeq DNA:NT_007299, RefSeq Protein:NP_112222, RefSeq RNA:NM_030960, UCSC Genome Browser:NM_030960, UniProtKB:Q9HBV2 No chr6 88757507 88776550 88046907 88066832 +PA38101 124912 HGNC:16260 ENSG00000141316 sperm acrosome associated 3 SPACA3 cancer/testis antigen 54, sperm lyzozyme-like acrosomal protein 1 ALLP17, CT54, LYC3, LYZL3, SLLP1 Yes No Comparative Toxicogenomics Database:124912, Ensembl:ENSG00000141316, GenAtlas:SPACA3, GeneCard:SPACA3, HGNC:HGNC:16260, HumanCyc Gene:HS13871, ModBase:Q8IXA5, NCBI Gene:124912, OMIM:612749, RefSeq DNA:NT_010799, RefSeq Protein:NP_776246, RefSeq RNA:NM_173847, UCSC Genome Browser:NM_173847, UniProtKB:Q8IXA5 No chr17 31318882 31324895 32991864 32997877 +PA38141 171169 HGNC:16441 ENSG00000177202 sperm acrosome associated 4 SPACA4 SAMP14 Yes No Ensembl:ENSG00000177202, GenAtlas:SPACA4, GeneCard:SPACA4, HGNC:HGNC:16441, HumanCyc Gene:HS16812, ModBase:Q8TDM5, NCBI Gene:171169, OMIM:609932, RefSeq DNA:NT_011109, RefSeq Protein:NP_598005, RefSeq RNA:NM_133498, UCSC Genome Browser:NM_133498, UniProtKB:Q8TDM5 No chr19 49110000 49110971 48606743 48607714 +PA134907501 389852 HGNC:31353 ENSG00000171489 sperm acrosome associated 5 SPACA5 Sperm Lysozyme-Like Protein 2 LYC5, LYZL5, PNPK6288, SLLP2, UNQ6288, dJ54B20.3 Yes No Ensembl:ENSG00000171489, HGNC:HGNC:31353, NCBI Gene:389852, OMIM:300593, RefSeq DNA:NT_079573, RefSeq Protein:NP_995328, RefSeq RNA:NM_205856 No chrX 47863734 47869130 48004336 48009736 +PA162404365 729201 HGNC:19142 ENSG00000171478 sperm acrosome associated 5B SPACA5B LYZL5B Yes No Ensembl:ENSG00000171478, GeneCard:SPACA5B, HGNC:HGNC:19142, ModBase:Q96QH8, NCBI Gene:729201, RefSeq DNA:NT_079573, RefSeq Protein:NP_001073369, RefSeq RNA:NM_001079900, UniProtKB:Q96QH8 No chrX 47990039 47991995 48130657 48132613 +PA164723593 147650 HGNC:27113 ENSG00000182310 sperm acrosome associated 6 SPACA6 Let-7e host, long intergenic non-protein coding RNA 85, sperm acrosome associated 6 LET7EH, LINC00085, NCRNA00085, SPACA6, SPACA6P Yes No Ensembl:ENSG00000182310, GeneCard:NCRNA00085, HGNC:HGNC:27113, NCBI Gene:147650, RefSeq DNA:NT_011109, RefSeq RNA:NR_024330 No chr19 52196593 52208443 51688211 51712071 +PA147358486 122258 HGNC:29575 ENSG00000153498 sperm acrosome associated 7 SPACA7 C13orf28 Yes No Ensembl:ENSG00000153498, GeneCard:C13orf28, HGNC:HGNC:29575, HumanCyc Gene:HS14475, NCBI Gene:122258, RefSeq DNA:NT_027140, RefSeq Protein:NP_660291, RefSeq RNA:NM_145248, UniProtKB:Q96KW9 No chr13 113030649 113089009 112376300 112434695 +PA25983 11092 HGNC:1367 ENSG00000165698 sperm acrosome associated 9 SPACA9 chromosome 9 open reading frame 9 C9orf9, Mast Yes No Ensembl:ENSG00000165698, GenAtlas:C9orf9, GeneCard:C9orf9, HGNC:HGNC:1367, HumanCyc Gene:HS15355, NCBI Gene:11092, RefSeq DNA:NT_035014, RefSeq Protein:NP_061829, RefSeq RNA:NM_018956, UCSC Genome Browser:NM_018956, UniProtKB:Q96E40 No chr9 135754282 135765419 132878320 132890314 +PA166352140 402573 HGNC:22135 sperm acrosome developmental regulator SPACDR C7orf61 IMAGE:4839025 Yes No HGNC:HGNC:22135, NCBI Gene:402573 No 0 0 0 0 +PA166352141 112577516 HGNC:55808 spermadhesin family member SPADH Yes No HGNC:HGNC:55808, NCBI Gene:112577516 No 0 0 0 0 +PA36049 6674 HGNC:11212 ENSG00000104450 sperm associated antigen 1 SPAG1 dynein axonemal assembly factor 13 CILD28, CT140, DNAAF13, FLJ32920, HSD-3.8, SP75, TPIS Yes No Comparative Toxicogenomics Database:6674, Ensembl:ENSG00000104450, GenAtlas:SPAG1, GeneCard:SPAG1, HGNC:HGNC:11212, HumanCyc Gene:HS02585, ModBase:Q07617, NCBI Gene:6674, OMIM:603395, RefSeq DNA:NT_008046, RefSeq Protein:NP_003105, RefSeq Protein:NP_757367, RefSeq RNA:NM_003114, RefSeq RNA:NM_172218, UCSC Genome Browser:NM_003114, UniProtKB:Q07617 No chr8 101170263 101254132 100157869 100241904 +PA162404366 653423 HGNC:33342 ENSG00000178287 sperm associated antigen 11A SPAG11A epididymal protein 2A EDDM2A, HE2 Yes No Ensembl:ENSG00000178287, GeneCard:SPAG11A, HGNC:HGNC:33342, NCBI Gene:653423, RefSeq DNA:NT_077531, RefSeq Protein:NP_001075021, RefSeq RNA:NM_001081552, UniProtKB:Q6PDA7 No chr8 7705209 7721319 7847880 7863797 +PA37894 10407 HGNC:14534 ENSG00000164871, ENSG00000178287 sperm associated antigen 11B SPAG11B epididymal protein 2B EDDM2B, EP2, EP2C, EP2D, HE2 Yes No Ensembl:ENSG00000164871, Ensembl:ENSG00000178287, GenAtlas:SPAG11, GeneCard:SPAG11, HGNC:HGNC:14534, NCBI Gene:10407, OMIM:606560, RefSeq DNA:NT_023736, RefSeq DNA:NT_023736.16, RefSeq Protein:NP_057596, RefSeq Protein:NP_478107, RefSeq Protein:NP_478108, RefSeq Protein:NP_478109, RefSeq Protein:NP_478110, RefSeq Protein:NP_478113, RefSeq Protein:NP_478114, RefSeq RNA:NM_016512, RefSeq RNA:NM_016512.3, RefSeq RNA:NM_058200, RefSeq RNA:NM_058200.2, RefSeq RNA:NM_058201, RefSeq RNA:NM_058201.2, RefSeq RNA:NM_058202, RefSeq RNA:NM_058202.2, RefSeq RNA:NM_058203, RefSeq RNA:NM_058203.1, RefSeq RNA:NM_058206, RefSeq RNA:NM_058206.3, RefSeq RNA:NM_058207, RefSeq RNA:NM_058207.2, UCSC Genome Browser:NM_016512, UniProtKB:Q08648 No chr8 7305276 7321192 7447754 7463670 +PA134887898 79582 HGNC:23225 ENSG00000144451 sperm associated antigen 16 SPAG16 DKFZp666P1710, FLJ22724, PF20, WDR29 Yes Yes Ensembl:ENSG00000144451, GeneCard:SPAG16, HGNC:HGNC:23225, ModBase:Q8N0X2, NCBI Gene:79582, OMIM:612173, RefSeq DNA:NT_005403, RefSeq Protein:NP_001020607, RefSeq Protein:NP_078808, RefSeq RNA:NM_001025436, RefSeq RNA:NM_024532, UniProtKB:Q4G1A2, UniProtKB:Q8N0X2 No chr2 214149103 215275225 213284369 214410501 +PA142670888 200162 HGNC:26620 ENSG00000155761 sperm associated antigen 17 SPAG17 CT143, FLJ34497, PF6, RP4-776P7.2 Yes No Ensembl:ENSG00000155761, GeneCard:SPAG17, HGNC:HGNC:26620, ModBase:Q6Q759, NCBI Gene:200162, RefSeq DNA:NT_032977, RefSeq Protein:NP_996879, RefSeq RNA:NM_206996, UniProtKB:Q6Q759 No chr1 118496288 118727848 117953665 118185225 +PA36050 6676 HGNC:11214 ENSG00000061656 sperm associated antigen 4 SPAG4 Sad1 and UNC84 domain containing 4, acrosomal protein ACR55, cancer/testis antigen 127 CT127, SUN4 Yes No Comparative Toxicogenomics Database:6676, Ensembl:ENSG00000061656, GenAtlas:SPAG4, GeneCard:SPAG4, HGNC:HGNC:11214, HumanCyc Gene:HS00757, ModBase:Q9NPE6, NCBI Gene:6676, OMIM:603038, RefSeq DNA:NT_011362, RefSeq Protein:NP_003107, RefSeq RNA:NM_003116, UCSC Genome Browser:NM_003116, UniProtKB:Q9NPE6 No chr20 34203776 34208967 35615856 35621094 +PA134868542 10615 HGNC:13452 ENSG00000076382 sperm associated antigen 5 SPAG5 astrin, mitotic spindle associated protein p126, mitotic spindle coiled-coil related protein DEEPEST, MAP126, hMAP126 Yes No Comparative Toxicogenomics Database:10615, Ensembl:ENSG00000076382, GeneCard:SPAG5, HGNC:HGNC:13452, HumanCyc Gene:HS12244, ModBase:Q96R06, NCBI Gene:10615, RefSeq DNA:NT_010799, RefSeq Protein:NP_006452, RefSeq RNA:NM_006461, UniProtKB:Q96R06 No chr17 26904583 26926056 28577565 28599038 +PA36051 9576 HGNC:11215 ENSG00000077327 sperm associated antigen 6 SPAG6 axoneme central apparatus protein CFAP194, CT141, FAP194, Repro-SA-1, pf16 Yes No Comparative Toxicogenomics Database:9576, Ensembl:ENSG00000077327, GenAtlas:SPAG6, GeneCard:SPAG6, HGNC:HGNC:11215, HumanCyc Gene:HS01242, ModBase:O75602, NCBI Gene:9576, OMIM:605730, RefSeq DNA:NT_008705, RefSeq Protein:NP_036575, RefSeq Protein:NP_758442, RefSeq RNA:NM_012443, RefSeq RNA:NM_172242, UCSC Genome Browser:NM_012443, UniProtKB:O75602 No chr10 22634345 22706539 22345416 22417610 +PA36052 9552 HGNC:11216 ENSG00000091640 sperm associated antigen 7 SPAG7 ACRP, FSA-1, MGC20134 Yes No Ensembl:ENSG00000091640, GenAtlas:SPAG7, GeneCard:SPAG7, HGNC:HGNC:11216, HumanCyc Gene:HS01742, ModBase:O75391, NCBI Gene:9552, OMIM:610056, RefSeq DNA:NT_010718, RefSeq Protein:NP_004881, RefSeq RNA:NM_004890, UCSC Genome Browser:NM_004890, UniProtKB:O75391 No chr17 4862521 4871132 4959226 4967837 +PA37843 26206 HGNC:14105 ENSG00000137098 sperm associated antigen 8 SPAG8 BS-84, CILD28, CT142, HSD-1, SPAG3, hSMP-1 Yes No Ensembl:ENSG00000137098, GenAtlas:SPAG8, GeneCard:SPAG8, HGNC:HGNC:14105, HumanCyc Gene:HS06270, ModBase:Q99932, NCBI Gene:26206, OMIM:605731, RefSeq DNA:NT_008413, RefSeq Protein:NP_001034681, RefSeq Protein:NP_758516, RefSeq RNA:NM_001039592, RefSeq RNA:NM_172312, UCSC Genome Browser:NM_012436, UniProtKB:Q99932 No chr9 35807782 35812269 35807785 35812262 +PA37890 9043 HGNC:14524 ENSG00000008294 sperm associated antigen 9 SPAG9 HLC-4 protein, JNK interacting protein, JNK-associated leucine-zipper protein, JNK/SAPK-associated protein, Max-binding protein, c-Jun NH2-terminal kinase-associated leucine zipper protein, cancer/testis antigen 89, lung cancer oncogene 4, proliferation-inducing gene 6, sperm specific protein, sperm surface protein CT89, FLJ13450, FLJ14006, FLJ26141, FLJ34602, HLC4, HSS, JIP-4, JIP4, JLP, KIAA0516, MGC117291, MGC14967, MGC74461, PHET, PIG6, SYD1 Yes No Comparative Toxicogenomics Database:9043, Ensembl:ENSG00000008294, GenAtlas:SPAG9, GeneCard:SPAG9, HGNC:HGNC:14524, HumanCyc Gene:HS00242, NCBI Gene:9043, OMIM:605430, RefSeq DNA:NT_010783, RefSeq Protein:NP_001124000, RefSeq Protein:NP_003962, RefSeq RNA:NM_001130528, RefSeq RNA:NM_003971, UCSC Genome Browser:NM_003971, UniProtKB:A6H8U5, UniProtKB:O60271 No chr17 49039535 49198226 50962174 51120865 +PA36053 6677 HGNC:11217 ENSG00000106304 sperm adhesion molecule 1 SPAM1 """PH-20 hyaluronidase"", ""sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)""" HYAL5, PH-20, SPAG15 Yes No Comparative Toxicogenomics Database:6677, Ensembl:ENSG00000106304, GenAtlas:SPAM1, GeneCard:SPAM1, HGNC:HGNC:11217, HumanCyc Gene:HS02884, ModBase:P38567, NCBI Gene:6677, OMIM:600930, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001167515, RefSeq Protein:NP_001167516, RefSeq Protein:NP_001167517, RefSeq Protein:NP_003108, RefSeq Protein:NP_694859, RefSeq RNA:NM_001174044, RefSeq RNA:NM_001174045, RefSeq RNA:NM_001174046, RefSeq RNA:NM_003117, RefSeq RNA:NM_153189, UCSC Genome Browser:NM_003117, UniProtKB:P38567, UniProtKB:Q5D1J4, UniProtKB:Q8TC30 No chr7 123565286 123611464 123925232 123971410 +PA36054 30014 HGNC:11218 ENSG00000198021, ENSG00000203926 sperm protein associated with the nucleus, X-linked, family member A1 SPANXA1 cancer/testis antigen family 11, member 1 CT11.1, NAP-X, SPAN-Xa, SPAN-Xb, SPANX Yes No Ensembl:ENSG00000198021, Ensembl:ENSG00000203926, GenAtlas:SPANXA1, GeneCard:SPANXA1, HGNC:HGNC:11218, NCBI Gene:30014, OMIM:300305, RefSeq DNA:NT_011786, RefSeq Protein:NP_038481, RefSeq RNA:NM_013453, UCSC Genome Browser:NM_013453 No chrX 140671806 140672836 141583674 141584738 +PA37870 728712 HGNC:14328 ENSG00000203926 SPANX family member A2 SPANXA2 SPANX family, member A2 SPANX Yes No Ensembl:ENSG00000203926, GenAtlas:SPANXA2, GeneCard:SPANXA2, HGNC:HGNC:14328, NCBI Gene:728712, OMIM:300493, RefSeq DNA:NT_011786, RefSeq Protein:NP_663695, RefSeq RNA:NM_145662, UCSC Genome Browser:NM_145662, UniProtKB:Q9NS26 No chrX 140677835 140678899 141589708 141590772 +PA142672061 619455 HGNC:31683 ENSG00000277215 SPANXA2 overlapping transcript 1 (non-protein coding) SPANXA2-OT1 FLJ36186 Yes No Ensembl:ENSG00000277215, GeneCard:SPANXA2-OT1, HGNC:HGNC:31683, NCBI Gene:619455, RefSeq DNA:NT_011786, RefSeq RNA:NR_037183, RefSeq RNA:XR_040312, RefSeq RNA:XR_040313 No chrX 140590843 140738069 141502849 141649939 +PA37871 728695 HGNC:14329 ENSG00000227234 SPANX family member B1 SPANXB1 """SPANX family, member B1"", ""cancer/testis antigen family 11, member 2""" CT11.2, SPANXB2, SPANXF1, SPANXF2 Yes No Ensembl:ENSG00000227234, GenAtlas:SPANXB1, GeneCard:SPANXB1, HGNC:HGNC:14329, NCBI Gene:728695, OMIM:300669, RefSeq DNA:NT_011786, RefSeq Protein:NP_115850, RefSeq RNA:NM_032461, UCSC Genome Browser:NM_032461, UniProtKB:Q9NS25 No chrX 140096761 140097876 141002591 141003706 +PA37873 64663 HGNC:14331 ENSG00000198573 SPANX family member C SPANXC """SPANX family, member C"", ""cancer/testis antigen family 11, member 3""" CT11.3, CTp11 Yes No Ensembl:ENSG00000198573, GenAtlas:SPANXC, GeneCard:SPANXC, HGNC:HGNC:14331, NCBI Gene:64663, OMIM:300330, RefSeq DNA:NT_011786, RefSeq Protein:NP_073152, RefSeq RNA:NM_022661, UCSC Genome Browser:NM_022661, UniProtKB:Q9NY87 No chrX 140335596 140336646 141241463 141242550 +PA37874 64648 HGNC:14332 ENSG00000196406 SPANX family member D SPANXD """SPANX family, member D"", ""cancer/testis antigen family 11, member 4""" CT11.4, SPANXE Yes No Ensembl:ENSG00000196406, GenAtlas:SPANXD, GeneCard:SPANXD, HGNC:HGNC:14332, NCBI Gene:64648, OMIM:300670, RefSeq DNA:NT_011786, RefSeq Protein:NP_115793, RefSeq RNA:NM_032417, UCSC Genome Browser:NM_032417, UniProtKB:Q9BXN6 No chrX 140785568 140786598 141697401 141698739 +PA162404376 494118 HGNC:33174 ENSG00000203923 SPANX family member N1 SPANXN1 """SPANX family, member N1"", ""cancer/testis antigen family 11, member 6""" CT11.6, SPANX-N1 Yes No Ensembl:ENSG00000203923, GeneCard:SPANXN1, HGNC:HGNC:33174, NCBI Gene:494118, OMIM:300664, RefSeq DNA:NG_021225, RefSeq DNA:NT_011681, RefSeq Protein:NP_001009614, RefSeq RNA:NM_001009614, UniProtKB:Q5VSR9 No chrX 144329107 144337728 145247587 145256208 +PA162404384 494119 HGNC:33175 ENSG00000268988 SPANX family member N2 SPANXN2 """SPANX family, member N2"", ""cancer/testis antigen family 11, member 7""" CT11.7, SPANX-N2 Yes No Ensembl:ENSG00000268988, GeneCard:SPANXN2, HGNC:HGNC:33175, ModBase:Q5MJ10, NCBI Gene:494119, OMIM:300665, RefSeq DNA:NT_011786, RefSeq Protein:NP_001009615, RefSeq RNA:NM_001009615, UniProtKB:Q5MJ10 No chrX 142795055 142804516 143712035 143720668 +PA162404385 139067 HGNC:33176 ENSG00000189252 SPANX family member N3 SPANXN3 """SPANX family, member N3"", ""cancer/testis antigen family 11, member 8""" CT11.8, SPANX-N3 Yes No Ensembl:ENSG00000189252, GeneCard:SPANXN3, HGNC:HGNC:33176, ModBase:Q5MJ09, NCBI Gene:139067, OMIM:300666, RefSeq DNA:NT_011786, RefSeq Protein:NP_001009609, RefSeq RNA:NM_001009609, UniProtKB:Q5MJ09 No chrX 142596564 142605307 143508735 143517475 +PA162404394 441525 HGNC:33177 ENSG00000189326 SPANX family member N4 SPANXN4 """SPANX family, member N4"", ""cancer/testis antigen family 11, member 9""" CT11.9, SPANX-N4 Yes No Ensembl:ENSG00000189326, GeneCard:SPANXN4, HGNC:HGNC:33177, NCBI Gene:441525, OMIM:300667, RefSeq DNA:NG_013264, RefSeq DNA:NT_011786, RefSeq Protein:NP_001009613, RefSeq RNA:NM_001009613, UniProtKB:Q5MJ08 No chrX 142113704 142122066 143025918 143038637 +PA162404403 494197 HGNC:33178 ENSG00000204363 SPANX family member N5 SPANXN5 """SPANX family, member N5"", ""cancer/testis antigen family 11, member 10""" CT11.10, SPANX-N5 Yes No Ensembl:ENSG00000204363, GeneCard:SPANXN5, HGNC:HGNC:33178, NCBI Gene:494197, OMIM:300668, RefSeq DNA:NT_011630, RefSeq Protein:NP_001009616, RefSeq RNA:NM_001009616, UniProtKB:Q5MJ07 No chrX 52825186 52826388 52796146 52797348 +PA36055 6678 HGNC:11219 ENSG00000113140 secreted protein acidic and cysteine rich SPARC """cysteine-rich protein"", ""osteonectin"", ""secreted protein acidic and rich in cysteine"", ""secreted protein, acidic, cysteine-rich (osteonectin)""" BM-40, ON, ONT Yes Yes Comparative Toxicogenomics Database:6678, Ensembl:ENSG00000113140, GenAtlas:SPARC, GeneCard:SPARC, HGNC:HGNC:11219, HumanCyc Gene:HS03650, ModBase:P09486, NCBI Gene:6678, OMIM:182120, RefSeq DNA:NT_029289, RefSeq Protein:NP_003109, RefSeq RNA:NM_003118, UCSC Genome Browser:NM_003118, UniProtKB:P09486 No chr5 151040657 151066615 151661096 151687054 +PA36056 8404 HGNC:11220 ENSG00000152583 SPARC like 1 SPARCL1 SPARC-like 1 (hevin), hevin MAST9 Yes No Comparative Toxicogenomics Database:8404, Ensembl:ENSG00000152583, GenAtlas:SPARCL1, GeneCard:SPARCL1, HGNC:HGNC:11220, HumanCyc Gene:HS07835, ModBase:Q14515, NCBI Gene:8404, OMIM:606041, RefSeq DNA:NT_016354, RefSeq Protein:NP_001121782, RefSeq Protein:NP_004675, RefSeq RNA:NM_001128310, RefSeq RNA:NM_004684, UCSC Genome Browser:NM_004684, UniProtKB:Q14515 No chr4 88394483 88450798 87473330 87529503 +PA134871645 23111 HGNC:18514 ENSG00000133104 spartin SPART spartin, spastic paraplegia 20 (Troyer syndrome) KIAA0610, SPG20, TAHCCP1 Yes No Comparative Toxicogenomics Database:23111, Ensembl:ENSG00000133104, GeneCard:SPG20, HGNC:HGNC:18514, HumanCyc Gene:HS13460, ModBase:Q8N0X7, NCBI Gene:23111, OMIM:275900, OMIM:607111, RefSeq DNA:NG_011559, RefSeq DNA:NT_024524, RefSeq Protein:NP_001135766, RefSeq Protein:NP_001135767, RefSeq Protein:NP_001135768, RefSeq Protein:NP_055902, RefSeq RNA:NM_001142294, RefSeq RNA:NM_001142295, RefSeq RNA:NM_001142296, RefSeq RNA:NM_015087, UniProtKB:Q8N0X7 No chr13 36875775 36944317 36301638 36370180 +PA36063 6683 HGNC:11233 ENSG00000021574 spastin SPAST ADPSP, FSP2, KIAA1083, SPG4 Yes No Comparative Toxicogenomics Database:6683, Ensembl:ENSG00000021574, GenAtlas:SPAST, GeneCard:SPAST, HGNC:HGNC:11233, HumanCyc Gene:HS00411, ModBase:Q9UBP0, NCBI Gene:6683, OMIM:182601, OMIM:604277, RefSeq DNA:NG_008730, RefSeq DNA:NT_022184, RefSeq Protein:NP_055761, RefSeq Protein:NP_955468, RefSeq RNA:NM_014946, RefSeq RNA:NM_199436, UCSC Genome Browser:NM_014946, UniProtKB:Q9UBP0 No chr2 32288660 32382706 32063551 32157637 +PA37910 100505741 HGNC:14682 ENSG00000122432 spermatogenesis associated 1 SPATA1 SP-2 Yes No Ensembl:ENSG00000122432, GenAtlas:SPATA1, GeneCard:SPATA1, HGNC:HGNC:14682, HumanCyc Gene:HS13050, NCBI Gene:100505741, RefSeq DNA:NT_032977, RefSeq Protein:NP_001074941, RefSeq RNA:NM_001081472, UCSC Genome Browser:NM_022354, UniProtKB:A6NG49, UniProtKB:Q5VX52 No chr1 84971902 85022150 84506301 84556495 +PA134888733 353324 HGNC:23221 ENSG00000186451 spermatogenesis associated 12 SPATA12 Yes No Ensembl:ENSG00000186451, GeneCard:SPATA12, HGNC:HGNC:23221, ModBase:Q7Z6I5, NCBI Gene:353324, OMIM:609869, RefSeq DNA:NT_022517, RefSeq Protein:NP_859078, RefSeq RNA:NM_181727, UniProtKB:Q7Z6I5 No chr3 57094469 57109460 57060132 57076068 +PA134912609 221178 HGNC:23222 ENSG00000182957 spermatogenesis associated 13 SPATA13 APC stimulated guanine nucleotide exchange factor 2 ARHGEF29, ASEF2, FLJ31208 Yes No Comparative Toxicogenomics Database:221178, Ensembl:ENSG00000182957, GeneCard:SPATA13, HGNC:HGNC:23222, ModBase:Q96N96, NCBI Gene:221178, OMIM:613324, RefSeq DNA:NT_024524, RefSeq Protein:NP_001159743, RefSeq Protein:NP_694568, RefSeq RNA:NM_001166271, RefSeq RNA:NM_153023, UniProtKB:A2VEA9, UniProtKB:Q96N96 No chr13 24553765 24881212 23979626 24307074 +PA134942358 83893 HGNC:29935 ENSG00000144962 spermatogenesis associated 16 SPATA16 NYD-SP12 Yes No Comparative Toxicogenomics Database:83893, Ensembl:ENSG00000144962, GeneCard:SPATA16, HGNC:HGNC:29935, HumanCyc Gene:HS14063, ModBase:Q0R2U2, NCBI Gene:83893, OMIM:102530, OMIM:609856, RefSeq DNA:NG_021422, RefSeq DNA:NT_005612, RefSeq Protein:NP_114161, RefSeq RNA:NM_031955, UniProtKB:Q9BXB7 No chr3 172607147 172859058 172889357 173141268 +PA144596270 128153 HGNC:25184 ENSG00000162814 spermatogenesis associated 17 SPATA17 IQ motif containing H CFAP305, FAP305, IQCH, MOT17 Yes No Comparative Toxicogenomics Database:128153, Ensembl:ENSG00000162814, GeneCard:SPATA17, HGNC:HGNC:25184, HumanCyc Gene:HS14970, ModBase:Q96L03, NCBI Gene:128153, OMIM:611032, RefSeq DNA:NT_167186, RefSeq Protein:NP_620151, RefSeq RNA:NM_138796, UniProtKB:A5D6N2, UniProtKB:Q96L03 No chr1 217804684 218040492 217631324 217868151 +PA142670883 132671 HGNC:29579 ENSG00000163071 spermatogenesis associated 18 SPATA18 FLJ32906 Yes No Ensembl:ENSG00000163071, GeneCard:SPATA18, HGNC:HGNC:29579, HumanCyc Gene:HS15015, ModBase:Q8TC71, NCBI Gene:132671, OMIM:612814, RefSeq DNA:NT_022853, RefSeq Protein:NP_660306, RefSeq RNA:NM_145263, UniProtKB:Q8TC71 No chr4 52917578 52963461 52051331 52097305 +PA142670884 219938 HGNC:30614 ENSG00000166118 spermatogenesis associated 19 SPATA19 cancer/testis antigen 132, spergen 1 CT132, FLJ25851, SPAS1, spergen1 Yes No Ensembl:ENSG00000166118, GeneCard:SPATA19, HGNC:HGNC:30614, NCBI Gene:219938, OMIM:609805, RefSeq DNA:NT_033899, RefSeq Protein:NP_777587, RefSeq RNA:NM_174927, UniProtKB:Q7Z5L4 No chr11 133710517 133715433 133835930 133845538 +PA37909 9825 HGNC:14681 ENSG00000158480 spermatogenesis associated 2 SPATA2 protein phosphatase 1, regulatory subunit 145 KIAA0757, PD1, PPP1R145, tamo Yes No Comparative Toxicogenomics Database:9825, Ensembl:ENSG00000158480, GenAtlas:SPATA2, GeneCard:SPATA2, HGNC:HGNC:14681, HumanCyc Gene:HS08297, ModBase:Q9UM82, NCBI Gene:9825, OMIM:607662, RefSeq DNA:NT_011362, RefSeq Protein:NP_001129245, RefSeq Protein:NP_006029, RefSeq RNA:NM_001135773, RefSeq RNA:NM_006038, UCSC Genome Browser:NM_006038, UniProtKB:A8K0S9, UniProtKB:B4DID4, UniProtKB:Q9UM82 No chr20 48519928 48532080 49903391 49915543 +PA142670885 64847 HGNC:26125 ENSG00000006282 spermatogenesis associated 20 SPATA20 hypothetical protein FLJ21347 FLJ21347, SSP411, Tisp78 Yes No Ensembl:ENSG00000006282, GeneCard:SPATA20, HGNC:HGNC:26125, HumanCyc Gene:HS00173, ModBase:Q8TB22, NCBI Gene:64847, RefSeq DNA:NT_010783, RefSeq Protein:NP_073738, RefSeq RNA:NM_022827, UniProtKB:Q8TB22 No chr17 48624450 48633213 50547089 50555852 +PA142670886 374955 HGNC:28026 ENSG00000187144 spermatogenesis associated 21 SPATA21 spergen-2, spergen2 Yes No Ensembl:ENSG00000187144, GeneCard:SPATA21, HGNC:HGNC:28026, ModBase:Q7Z572, NCBI Gene:374955, RefSeq DNA:NT_004610, RefSeq Protein:NP_940948, RefSeq RNA:NM_198546, UniProtKB:Q7Z572 No chr1 16722101 16763919 16397271 16437842 +PA142670887 84690 HGNC:30705 ENSG00000141255 spermatogenesis associated 22 SPATA22 NYD-SP20 Yes No Ensembl:ENSG00000141255, GeneCard:SPATA22, HGNC:HGNC:30705, HumanCyc Gene:HS13867, NCBI Gene:84690, RefSeq DNA:NT_010718, RefSeq Protein:NP_001164166, RefSeq Protein:NP_001164167, RefSeq Protein:NP_001164168, RefSeq Protein:NP_001164169, RefSeq Protein:NP_001164170, RefSeq Protein:NP_115987, RefSeq RNA:NM_001170695, RefSeq RNA:NM_001170696, RefSeq RNA:NM_001170697, RefSeq RNA:NM_001170698, RefSeq RNA:NM_001170699, RefSeq RNA:NM_032598, UniProtKB:B4DXB1, UniProtKB:C9JL34, UniProtKB:Q8NHS9 No chr17 3343305 3417146 3440011 3513852 +PA165660551 202051 HGNC:27322 ENSG00000170469 spermatogenesis associated 24 SPATA24 coiled-coil domain containing 161 CCDC161, T6441 Yes No Ensembl:ENSG00000170469, GeneCard:SPATA24, HGNC:HGNC:27322, NCBI Gene:202051, RefSeq DNA:NT_034772, RefSeq Protein:NP_919272, RefSeq RNA:NM_194296, UniProtKB:Q86W54 No chr5 138731514 138739820 139395269 139404204 +PA25707 128497 HGNC:16158 ENSG00000149634 spermatogenesis associated 25 SPATA25 C20orf165, TSG23, dJ337O18.8 Yes No Ensembl:ENSG00000149634, GenAtlas:C20orf165, GeneCard:C20orf165, HGNC:HGNC:16158, HumanCyc Gene:HS14298, ModBase:Q9BR10, NCBI Gene:128497, RefSeq DNA:NT_011362, RefSeq Protein:NP_542175, RefSeq RNA:NM_080608, UCSC Genome Browser:NM_080608, UniProtKB:Q9BR10 No chr20 44515125 44517245 45886491 45887599 +PA162404411 124044 HGNC:28393 ENSG00000158792 spermatogenesis associated 2 like SPATA2L spermatogenesis associated 2-like C16orf76, MGC26885, tamo Yes No Ensembl:ENSG00000158792, GeneCard:SPATA2L, HGNC:HGNC:28393, HumanCyc Gene:HS14733, ModBase:Q8IUW3, NCBI Gene:124044, RefSeq DNA:NT_010542, RefSeq Protein:NP_689552, RefSeq RNA:NM_152339, UniProtKB:Q8IUW3 No chr16 89762765 89768131 89696357 89701993 +PA38256 130560 HGNC:17884 ENSG00000173699 spermatogenesis associated 3 SPATA3 TSARG1 Yes No Comparative Toxicogenomics Database:130560, Ensembl:ENSG00000173699, GenAtlas:SPATA3, GeneCard:SPATA3, HGNC:HGNC:17884, HumanCyc Gene:HS16242, NCBI Gene:130560, RefSeq DNA:NT_005403, RefSeq Protein:NP_620712, RefSeq RNA:NM_139073, UniProtKB:Q8NHX4 No chr2 231860839 231884572 230996124 231019939 +PA162387841 647060 HGNC:23394 ENSG00000204849 SPATA31 subfamily A member 1 SPATA31A1 SPATA31 subfamily A, member 1 C9orf36, C9orf36A, DKFZP434B204, FAM75A1, FAM75A2, OTTHUMG00000013156, SPATA31A2 Yes No Ensembl:ENSG00000204849, GeneCard:FAM75A1, HGNC:HGNC:23394, ModBase:Q5TZJ5, NCBI Gene:647060, RefSeq DNA:NT_008413, RefSeq Protein:NP_001078921, RefSeq RNA:NM_001085452, UniProtKB:Q5TZJ5 No chr9 39355699 39361956 39355667 39361962 +PA162387867 727830 HGNC:32003 ENSG00000275969 SPATA31 subfamily A member 3 SPATA31A3 SPATA31 subfamily A, member 3 DKFZp434B204, FAM75A3, OTTHUMG00000013164 Yes No Ensembl:ENSG00000275969, GeneCard:FAM75A3, HGNC:HGNC:32003, ModBase:Q5VYP0, NCBI Gene:727830, RefSeq DNA:NT_078041, RefSeq Protein:NP_001076593, RefSeq RNA:NM_001083124, UniProtKB:Q5VYP0 No chr9 40700291 40706537 66986301 66992550 +PA162387890 727905 HGNC:32005 ENSG00000276581 SPATA31 subfamily A member 5 SPATA31A5 SPATA31 subfamily A, member 5 FAM75A5, OTTHUMG00000013204 Yes No Ensembl:ENSG00000276581, GeneCard:FAM75A5, HGNC:HGNC:32005, ModBase:Q5VU36, NCBI Gene:727905, RefSeq DNA:NT_078043, RefSeq Protein:NP_001107013, RefSeq RNA:NM_001113541, UniProtKB:Q5VU36 No chr9 41500679 41506925 60914372 60920653 +PA164719932 389730 HGNC:32006 ENSG00000185775 SPATA31 subfamily A member 6 SPATA31A6 SPATA31 subfamily A, member 6 FAM75A6, OTTHUMG00000013224 Yes No Ensembl:ENSG00000185775, GeneCard:FAM75A6, HGNC:HGNC:32006, NCBI Gene:389730, RefSeq DNA:NT_167188, RefSeq Protein:NP_001138668, RefSeq RNA:NM_001145196, UniProtKB:Q5VVP1 No chr9 43624502 43630730 42183659 42189887 +PA162387900 26165 HGNC:32007 ENSG00000276040 SPATA31 subfamily A member 7 SPATA31A7 SPATA31 subfamily A, member 7 FAM75A4, FAM75A7, OTTHUMG00000013196, SPATA31A4 Yes No Ensembl:ENSG00000276040, GeneCard:FAM75A7, HGNC:HGNC:32007, ModBase:Q8IWB4, NCBI Gene:26165, RefSeq DNA:NT_078052, RefSeq Protein:NP_056482, RefSeq RNA:NM_015667, UniProtKB:Q8IWB4 No chr9 65503366 65509610 61190036 61196280 +PA164719942 441452 HGNC:27846 ENSG00000230246 SPATA31 subfamily C member 1 SPATA31C1 SPATA31 subfamily C, member 1 FAM75C1, FLJ36055 Yes No Ensembl:ENSG00000230246, GeneCard:FAM75C1, HGNC:HGNC:27846, NCBI Gene:441452, RefSeq DNA:NT_008470, RefSeq Protein:NP_001138596, RefSeq RNA:NM_001145124 No chr9 90532877 90538572 87913936 87923657 +PA162387924 645961 HGNC:24508 ENSG00000177910 SPATA31 subfamily C member 2 SPATA31C2 SPATA31 subfamily C, member 2 DKFZP434M131, FAM75C2 Yes No Ensembl:ENSG00000177910, GeneCard:FAM75C2, HGNC:HGNC:24508, NCBI Gene:645961, RefSeq DNA:NT_008470, RefSeq Protein:NP_001159609, RefSeq RNA:NM_001166137, RefSeq RNA:XR_040572, RefSeq RNA:XR_079066 No chr9 90744220 90749900 88129305 88134985 +PA166049029 389763 HGNC:37283 ENSG00000214929 SPATA31 subfamily D member 1 SPATA31D1 SPATA31 subfamily D, member 1 FAM75D1, FLJ46321 Yes No Ensembl:ENSG00000214929, HGNC:HGNC:37283, NCBI Gene:389763 No chr9 84603687 84610171 81987404 81995256 +PA166049032 389762 HGNC:38603 ENSG00000186788 SPATA31 subfamily D member 3 SPATA31D3 SPATA31 subfamily D, member 3 FAM75D3, FLJ44082 Yes No Ensembl:ENSG00000186788, HGNC:HGNC:38603, NCBI Gene:389762 No chr9 84558415 84565009 81943500 81950094 +PA166049031 389761 HGNC:38601 ENSG00000189357 SPATA31 subfamily D member 4 SPATA31D4 SPATA31 subfamily D, member 4 FAM75D4, FLJ43859 Yes No Ensembl:ENSG00000189357, HGNC:HGNC:38601, NCBI Gene:389761 No chr9 84543343 84549913 81928428 81934998 +PA134886884 286234 HGNC:26672 ENSG00000177992 SPATA31 subfamily E member 1 SPATA31E1 SPATA31 subfamily E, member 1 C9orf79, FAM75E1, FLJ35866 Yes No Ensembl:ENSG00000177992, GeneCard:C9orf79, HGNC:HGNC:26672, ModBase:Q6ZUB1, NCBI Gene:286234, RefSeq DNA:NT_008470, RefSeq Protein:NP_849150, RefSeq RNA:NM_178828, UniProtKB:Q6ZUB1 No chr9 90497772 90503814 87882857 87888899 +PA166049077 259308 HGNC:41911 ENSG00000205108 SPATA31 subfamily F member 1 SPATA31F1 """family with sequence similarity 205 member A"", ""family with sequence similarity 205, member A""" C9orf144B, FAM205A Yes No Ensembl:ENSG00000205108, HGNC:HGNC:41911, NCBI Gene:259308 No chr9 34723050 34729535 34723053 34729538 +PA166180618 100129969 HGNC:42673 ENSG00000187791 SPATA31 subfamily F member 3 SPATA31F3 family with sequence similarity 205 member C FAM205C, FAM205CP Yes No Ensembl:ENSG00000187791, HGNC:HGNC:42673, NCBI Gene:100129969 No 0 0 0 0 +PA145149697 138724 HGNC:31418 ENSG00000174038 SPATA31 subfamily G member 1 SPATA31G1 chromosome 9 open reading frame 131 C9orf131, MGC41945 Yes No Ensembl:ENSG00000174038, GeneCard:C9orf131, HGNC:HGNC:31418, ModBase:Q5VYM1, NCBI Gene:138724, RefSeq DNA:NT_008413, RefSeq Protein:NP_001035500, RefSeq Protein:NP_001035501, RefSeq Protein:NP_001035502, RefSeq Protein:NP_976044, RefSeq RNA:NM_001040410, RefSeq RNA:NM_001040411, RefSeq RNA:NM_001040412, RefSeq RNA:NM_203299, UniProtKB:A6NLE6, UniProtKB:Q5VYM1 No chr9 35041102 35045988 35041095 35045991 +PA134977296 84226 HGNC:25275 ENSG00000221843 SPATA31 subfamily H member 1 SPATA31H1 P-S-E-R-S-H-H-S repeats containing, chromosome 2 open reading frame 16 C2orf16, DKFZp434G118 Yes No Ensembl:ENSG00000221843, GeneCard:C2orf16, HGNC:HGNC:25275, NCBI Gene:84226, RefSeq DNA:NT_022184, RefSeq Protein:NP_115642, RefSeq RNA:NM_032266, UniProtKB:Q68DN1 No chr2 27799389 27805589 27576522 27582722 +PA142672229 124783 HGNC:26349 ENSG00000184361 spermatogenesis associated 32 SPATA32 acrosome expressed 2 AEP2, C17orf46, FLJ25414, TEX34, VAD1.2 Yes No Ensembl:ENSG00000184361, GeneCard:C17orf46, HGNC:HGNC:26349, NCBI Gene:124783, RefSeq DNA:NT_010783, RefSeq Protein:NP_689556, RefSeq RNA:NM_152343, UniProtKB:Q96LK8 No chr17 43331760 43339479 45254393 45262112 +PA142672262 124045 HGNC:26463 ENSG00000167523 spermatogenesis associated 33 SPATA33 chromosome 16 open reading frame 55 C16orf55, FLJ31606 Yes No Ensembl:ENSG00000167523, GeneCard:C16orf55, HGNC:HGNC:26463, HumanCyc Gene:HS15560, NCBI Gene:124045, RefSeq DNA:NT_010542, RefSeq Protein:NP_694570, RefSeq RNA:NM_153025, UniProtKB:Q96N06 No chr16 89724152 89736866 89657744 89670458 +PA38232 132851 HGNC:17333 ENSG00000150628 spermatogenesis associated 4 SPATA4 CFAP178, FAP178, SPEF1B, TSARG2 Yes No Ensembl:ENSG00000150628, GenAtlas:SPATA4, GeneCard:SPATA4, HGNC:HGNC:17333, HumanCyc Gene:HS14328, ModBase:Q8NEY3, NCBI Gene:132851, OMIM:609879, RefSeq DNA:NT_016354, RefSeq Protein:NP_653245, RefSeq RNA:NM_144644, UniProtKB:Q8NEY3 No chr4 177105725 177116822 176184574 176195671 +PA164717042 149643 HGNC:33709 ENSG00000185523 spermatogenesis associated 45 SPATA45 chromosome 1 open reading frame 227 C1orf227, LOC149643 Yes No Ensembl:ENSG00000185523, GeneCard:C1orf227, HGNC:HGNC:33709, NCBI Gene:149643, RefSeq DNA:NT_167186, RefSeq Protein:NP_001019772, RefSeq RNA:NM_001024601, UniProtKB:Q537H7 No chr1 213003483 213020991 212830141 212847649 +PA142672495 284680 HGNC:27648 ENSG00000171722 spermatogenesis associated 46 SPATA46 chromosome 1 open reading frame 111 C1orf111, TEKT2BP2 Yes No Ensembl:ENSG00000171722, GeneCard:C1orf111, HGNC:HGNC:27648, NCBI Gene:284680, RefSeq DNA:NT_004487, RefSeq Protein:NP_872387, RefSeq RNA:NM_182581, UniProtKB:Q5T0L3 No chr1 162343515 162347017 162373725 162376962 +PA38312 54558 HGNC:18309 ENSG00000132122 spermatogenesis associated 6 SPATA6 spermatogenesis-related factor-1 FLJ10007, SRF-1, SRF1 Yes No Comparative Toxicogenomics Database:54558, Ensembl:ENSG00000132122, GenAtlas:SPATA6, GeneCard:SPATA6, HGNC:HGNC:18309, HumanCyc Gene:HS13415, ModBase:Q9NWH7, NCBI Gene:54558, RefSeq DNA:NT_032977, RefSeq Protein:NP_061946, RefSeq RNA:NM_019073, UCSC Genome Browser:NM_019073, UniProtKB:Q9NWH7 No chr1 48761044 48937876 48258643 48472208 +PA134880636 55064 HGNC:25472 ENSG00000106686 spermatogenesis associated 6 like SPATA6L spermatogenesis associated 6-like C9orf68, FLJ10058 Yes No Ensembl:ENSG00000106686, GeneCard:C9orf68, HGNC:HGNC:25472, HumanCyc Gene:HS12642, ModBase:Q8N4H0, NCBI Gene:55064, RefSeq DNA:NT_008413, RefSeq Protein:NP_001034484, RefSeq RNA:NM_001039395, UniProtKB:B4DIY4 No chr9 4553386 4666674 4540092 4666674 +PA134907300 55812 HGNC:20423 ENSG00000042317 spermatogenesis associated 7 SPATA7 HSD3, LCA3 Yes No Ensembl:ENSG00000042317, GeneCard:SPATA7, HGNC:HGNC:20423, HumanCyc Gene:HS12098, ModBase:Q9P0W8, NCBI Gene:55812, OMIM:268000, OMIM:604232, OMIM:609868, RefSeq DNA:NG_021183, RefSeq DNA:NT_026437, RefSeq Protein:NP_001035518, RefSeq Protein:NP_060888, RefSeq RNA:NM_001040428, RefSeq RNA:NM_018418, UniProtKB:Q9P0W8 No chr14 88851982 88904804 88385638 88470350 +PA134977227 145946 HGNC:28676 ENSG00000185594 spermatogenesis associated 8 SPATA8 MGC44294 Yes No Ensembl:ENSG00000185594, GeneCard:SPATA8, HGNC:HGNC:28676, NCBI Gene:145946, RefSeq DNA:NT_010274, RefSeq Protein:NP_775770, RefSeq RNA:NM_173499, UniProtKB:Q6RVD6 No chr15 97326676 97328845 96783407 96785615 +PA134900368 83890 HGNC:22988 ENSG00000145757 spermatogenesis associated 9 SPATA9 FLJ35906, NYD-SP16 Yes Yes Ensembl:ENSG00000145757, GeneCard:SPATA9, HGNC:HGNC:22988, HumanCyc Gene:HS14105, ModBase:Q9BWV2, NCBI Gene:83890, OMIM:608039, RefSeq DNA:NT_034772, RefSeq Protein:NP_114158, RefSeq RNA:NM_031952, UniProtKB:Q9BWV2 No chr5 94987885 95018885 95652181 95731848 +PA134907641 375686 HGNC:30510 ENSG00000186583 spermatogenesis and centriole associated 1 SPATC1 MGC61633, SPATA15, SPERIOLIN Yes No Ensembl:ENSG00000186583, GeneCard:SPATC1, HGNC:HGNC:30510, NCBI Gene:375686, OMIM:610874, RefSeq DNA:NT_008046, RefSeq Protein:NP_001127846, RefSeq Protein:NP_940974, RefSeq RNA:NM_001134374, RefSeq RNA:NM_198572, UniProtKB:B4DWW9, UniProtKB:Q76KD6 No chr8 145086582 145102015 144010992 144047114 +PA25851 84221 HGNC:1298 ENSG00000160284 spermatogenesis and centriole associated 1 like SPATC1L speriolin-like protein, spermatogenesis and centriole associated 1-like C21orf56 Yes No Ensembl:ENSG00000160284, GenAtlas:C21orf56, GeneCard:C21orf56, HGNC:HGNC:1298, HumanCyc Gene:HS14803, NCBI Gene:84221, OMIM:612412, RefSeq DNA:NT_011515, RefSeq Protein:NP_001136326, RefSeq Protein:NP_115637, RefSeq RNA:NM_001142854, RefSeq RNA:NM_032261, UCSC Genome Browser:NM_032261, UniProtKB:Q9H0A9 No chr21 47581062 47605167 46161148 46185159 +PA134922278 221409 HGNC:22957 ENSG00000249481 spermatogenesis associated serine rich 1 SPATS1 spermatogenesis associated, serine-rich 1 FLJ25442, SPATA8, SRSP1 Yes No Ensembl:ENSG00000249481, GeneCard:SPATS1, HGNC:HGNC:22957, HumanCyc Gene:HS14670, NCBI Gene:221409, RefSeq DNA:NT_007592, RefSeq Protein:NP_659463, RefSeq RNA:NM_145026, UniProtKB:Q496A3 No chr6 44310383 44344904 44342660 44377167 +PA134871579 65244 HGNC:18650 ENSG00000123352 spermatogenesis associated serine rich 2 SPATS2 spermatogenesis associated, serine-rich 2 FLJ13117, SCR59, SPATA10 Yes No Ensembl:ENSG00000123352, GeneCard:SPATS2, HGNC:HGNC:18650, HumanCyc Gene:HS13086, ModBase:Q86XZ4, NCBI Gene:65244, OMIM:611667, RefSeq DNA:NT_029419, RefSeq Protein:NP_075559, RefSeq RNA:NM_023071, UniProtKB:Q86XZ4 No chr12 49760688 49921208 49366905 49527441 +PA165697465 26010 HGNC:24574 ENSG00000196141 spermatogenesis associated serine rich 2 like SPATS2L """DNA polymerase transactivated protein 6"", ""spermatogenesis associated, serine-rich 2-like"", ""stress granule and nucleolar protein""" DNAPTP6, SGNP Yes Yes Ensembl:ENSG00000196141, GeneCard:SPATS2L, HGNC:HGNC:24574, NCBI Gene:26010, RefSeq DNA:NT_005403, RefSeq Protein:NP_001093892, RefSeq Protein:NP_001093893, RefSeq Protein:NP_001093894, RefSeq Protein:NP_056350, RefSeq RNA:NM_001100422, RefSeq RNA:NM_001100423, RefSeq RNA:NM_001100424, RefSeq RNA:NM_015535, UCSC Genome Browser:NM_015535, UniProtKB:Q9NUQ6 No chr2 201170604 201346986 200305881 200482263 +PA162404412 147841 HGNC:26913 ENSG00000161888 SPC24 component of NDC80 kinetochore complex SPC24 """SPC24, NDC80 kinetochore complex component"", ""SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)""" FLJ90806, SPBC24 Yes No Ensembl:ENSG00000161888, GeneCard:SPC24, HGNC:HGNC:26913, ModBase:Q8NBT2, NCBI Gene:147841, OMIM:609394, RefSeq DNA:NT_011295, RefSeq Protein:NP_872319, RefSeq RNA:NM_182513, UniProtKB:Q8NBT2 No chr19 11257444 11266563 11145494 11155997 +PA162404413 57405 HGNC:24031 ENSG00000152253 SPC25 component of NDC80 kinetochore complex SPC25 """SPC25, NDC80 kinetochore complex component"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)""" AD024, MGC22228, SPBC25 Yes No Ensembl:ENSG00000152253, GeneCard:SPC25, HGNC:HGNC:24031, HumanCyc Gene:HS14421, ModBase:Q9HBM1, NCBI Gene:57405, OMIM:609395, RefSeq DNA:NT_005403, RefSeq Protein:NP_065726, RefSeq RNA:NM_020675, UniProtKB:Q9HBM1 No chr2 169727401 169747277 168865045 168890443 +PA134972486 28972 HGNC:23401 ENSG00000114902 signal peptidase complex subunit 1 SPCS1 signal peptidase complex 12 kDa subunit, signal peptidase complex subunit 1 homolog (S. cerevisiae) HSPC033, SPC1, SPC12, YJR010C-A Yes No Comparative Toxicogenomics Database:28972, Ensembl:ENSG00000114902, GeneCard:SPCS1, HGNC:HGNC:23401, HumanCyc Gene:HS03814, NCBI Gene:28972, OMIM:610358, RefSeq DNA:NT_022517, RefSeq Protein:NP_054760, RefSeq RNA:NM_014041, UniProtKB:Q9Y6A9 No chr3 52739792 52742198 52705841 52708182 +PA128394559 9789 HGNC:28962 ENSG00000118363 signal peptidase complex subunit 2 SPCS2 signal peptidase 25kDa subunit, signal peptidase complex subunit 2 homolog (S. cerevisiae) KIAA0102 Yes No Comparative Toxicogenomics Database:9789, Ensembl:ENSG00000118363, GeneCard:SPCS2, HGNC:HGNC:28962, HumanCyc Gene:HS04214, NCBI Gene:9789, RefSeq DNA:NT_167190, RefSeq Protein:NP_055567, RefSeq RNA:NM_014752, UCSC Genome Browser:NM_014752, UniProtKB:Q15005 No chr11 74660292 74690076 74949247 74979031 +PA134953709 100131250 HGNC:31885 ENSG00000260928 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 1 SPCS2P1 Yes No Ensembl:ENSG00000260928, GeneCard:SPCS2P, HGNC:HGNC:31885, NCBI Gene:100131250 No chr15 43423217 43423885 43131019 43131687 +PA134910080 60559 HGNC:26212 ENSG00000129128 signal peptidase complex subunit 3 SPCS3 signal peptidase complex subunit 3 homolog (S. cerevisiae) FLJ22649, PRO3567, SPC22/23, SPC3, YLR066W Yes No Comparative Toxicogenomics Database:60559, Ensembl:ENSG00000129128, GeneCard:SPCS3, HGNC:HGNC:26212, HumanCyc Gene:HS05245, NCBI Gene:60559, RefSeq DNA:NT_016354, RefSeq Protein:NP_068747, RefSeq RNA:NM_021928, UniProtKB:P61009 No chr4 177241090 177253396 176319939 176332245 +PA134993886 25803 HGNC:17257 ENSG00000124664 SAM pointed domain containing ETS transcription factor SPDEF SAM pointed domain containing ets transcription factor PDEF, bA375E1.3 Yes No Ensembl:ENSG00000124664, GeneCard:SPDEF, HGNC:HGNC:17257, HumanCyc Gene:HS04814, ModBase:O95238, NCBI Gene:25803, OMIM:608144, RefSeq DNA:NT_007592, RefSeq Protein:NP_036523, RefSeq RNA:NM_012391, UniProtKB:O95238 No chr6 34505579 34524110 34537802 34556333 +PA144596466 54908 HGNC:26010 ENSG00000040275 spindle apparatus coiled-coil protein 1 SPDL1 spindly homolog (Drosophila) CCDC99, FLJ20364, hSpindly Yes No Ensembl:ENSG00000040275, GeneCard:CCDC99, HGNC:HGNC:26010, HumanCyc Gene:HS12091, ModBase:Q96EA4, NCBI Gene:54908, RefSeq DNA:NT_023133, RefSeq Protein:NP_060255, RefSeq RNA:NM_017785, UniProtKB:Q96EA4 No chr5 169010638 169031782 169583634 169604778 +PA134954857 245711 HGNC:30613 ENSG00000163806 speedy/RINGO cell cycle regulator family member A SPDYA speedy homolog A (Xenopus laevis) Ringo3, SPDY1, SPY1 Yes Yes Ensembl:ENSG00000163806, GeneCard:SPDYA, HGNC:HGNC:30613, NCBI Gene:245711, RefSeq DNA:NT_022184, RefSeq Protein:NP_001008779, RefSeq Protein:NP_001136106, RefSeq Protein:NP_877433, RefSeq RNA:NM_001008779, RefSeq RNA:NM_001142634, RefSeq RNA:NM_182756, UniProtKB:Q5MJ70 No chr2 29033462 29073476 28810834 28850610 +PA144596271 387778 HGNC:32681 ENSG00000204710 speedy/RINGO cell cycle regulator family member C SPDYC speedy homolog C (Xenopus laevis) Ringo2 Yes No Ensembl:ENSG00000204710, GeneCard:SPDYC, HGNC:HGNC:32681, NCBI Gene:387778, RefSeq DNA:NT_167190, RefSeq Protein:NP_001008778, RefSeq RNA:NM_001008778, UniProtKB:Q5MJ68 No chr11 64937707 64940688 65170236 65173666 +PA38135 285955 HGNC:16408 ENSG00000136206 speedy/RINGO cell cycle regulator family member E1 SPDYE1 Speedy E, speedy homolog E1 (Xenopus laevis) Ringo1, SPDYE, WBSCR19 Yes No Ensembl:ENSG00000136206, GenAtlas:WBSCR19, GeneCard:SPDYE1, GeneCard:WBSCR19, HGNC:HGNC:16408, HumanCyc Gene:HS13620, NCBI Gene:285955, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_778234, RefSeq RNA:NM_175064, UCSC Genome Browser:NM_175064, UniProtKB:Q8NFV5 No chr7 44038552 44049723 43997855 44011040 +PA166352144 643862 HGNC:51506 speedy/RINGO cell cycle regulator family member E10 SPDYE10 SPDYE10P Yes No HGNC:HGNC:51506, NCBI Gene:643862 No 0 0 0 0 +PA166352145 100996746 HGNC:51507 speedy/RINGO cell cycle regulator family member E11 SPDYE11 Yes No HGNC:HGNC:51507, NCBI Gene:100996746 No 0 0 0 0 +PA166352146 100101268 HGNC:51508 speedy/RINGO cell cycle regulator family member E12 SPDYE12 SPDYE12P Yes No HGNC:HGNC:51508, NCBI Gene:100101268 No 0 0 0 0 +PA166352147 105180390 HGNC:51509 speedy/RINGO cell cycle regulator family member E13 SPDYE13 SPDYE13P Yes No HGNC:HGNC:51509, NCBI Gene:105180390 No 0 0 0 0 +PA166352148 641776 HGNC:51510 speedy/RINGO cell cycle regulator family member E14 SPDYE14 SPDYE14P Yes No HGNC:HGNC:51510, NCBI Gene:641776 No 0 0 0 0 +PA166352149 105180391 HGNC:51511 speedy/RINGO cell cycle regulator family member E15 SPDYE15 SPDYE15P Yes No HGNC:HGNC:51511, NCBI Gene:105180391 No 0 0 0 0 +PA166181656 102723555 HGNC:51512 ENSG00000185040 speedy/RINGO cell cycle regulator family member E16 SPDYE16 Yes No Ensembl:ENSG00000185040, HGNC:HGNC:51512, NCBI Gene:102723555 No 0 0 0 0 +PA166352150 102723849 HGNC:51513 speedy/RINGO cell cycle regulator family member E17 SPDYE17 Yes No HGNC:HGNC:51513, NCBI Gene:102723849 No 0 0 0 0 +PA166352151 100505767 HGNC:51514 speedy/RINGO cell cycle regulator family member E18 SPDYE18 Yes No HGNC:HGNC:51514, NCBI Gene:100505767 No 0 0 0 0 +PA164726233 441273 HGNC:33841 ENSG00000205238 speedy/RINGO cell cycle regulator family member E2 SPDYE2 speedy homolog E2 (Xenopus laevis) MGC119295 Yes No Ensembl:ENSG00000205238, GeneCard:SPDYE2, HGNC:HGNC:33841, NCBI Gene:441273, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001026789, RefSeq RNA:NM_001031618, UniProtKB:B4DY11 No chr7 102191679 102202757 102551232 102565227 +PA166352152 442572 HGNC:51517 speedy/RINGO cell cycle regulator family member E21 SPDYE21 SPDYE21P Yes No HGNC:HGNC:51517, NCBI Gene:442572 No 0 0 0 0 +PA166123738 100310812 HGNC:48334 ENSG00000173678 speedy/RINGO cell cycle regulator family member E2B SPDYE2B Yes No Ensembl:ENSG00000173678, HGNC:HGNC:48334, NCBI Gene:100310812 No chr7 +PA164726234 441272 HGNC:35462 ENSG00000214300 speedy/RINGO cell cycle regulator family member E3 SPDYE3 speedy homolog E3 (Xenopus laevis) Yes No Ensembl:ENSG00000214300, GeneCard:SPDYE3, HGNC:HGNC:35462, NCBI Gene:441272, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001004351, RefSeq RNA:NM_001004351, UniProtKB:A6NKU9, UniProtKB:Q495Y9 No chr7 99905325 99919819 100306799 100322196 +PA164726235 388333 HGNC:35463 ENSG00000183318 speedy/RINGO cell cycle regulator family member E4 SPDYE4 speedy homolog E4 (Xenopus laevis) Yes No Ensembl:ENSG00000183318, GeneCard:SPDYE4, HGNC:HGNC:35463, NCBI Gene:388333, RefSeq DNA:NT_010718, RefSeq Protein:NP_001121548, RefSeq RNA:NM_001128076, UniProtKB:A6NLX3 No chr17 8650849 8661977 8746868 8759428 +PA164726251 442590 HGNC:35464 ENSG00000170092 speedy/RINGO cell cycle regulator family member E5 SPDYE5 speedy homolog E5 (Xenopus laevis) Yes No Ensembl:ENSG00000170092, GeneCard:SPDYE5, HGNC:HGNC:35464, NCBI Gene:442590, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001092905, RefSeq RNA:NM_001099435, UniProtKB:A6NIY4 No chr7 74695028 75133628 75493627 75504304 +PA164726272 729597 HGNC:35465 ENSG00000260097 speedy/RINGO cell cycle regulator family member E6 SPDYE6 speedy homolog E6 (Xenopus laevis) Yes No Ensembl:ENSG00000260097, GeneCard:SPDYE6, HGNC:HGNC:35465, NCBI Gene:729597, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001139682, RefSeq Protein:XP_002342786, RefSeq Protein:XP_002344416, RefSeq RNA:NM_001146210, RefSeq RNA:XM_002342745, RefSeq RNA:XM_002344375 No chr7 101986192 101997468 102345752 102356444 +PA166352142 728524 HGNC:33771 speedy/RINGO cell cycle regulator family member E8 SPDYE8 SPDYE8P Yes No HGNC:HGNC:33771, NCBI Gene:728524 No 0 0 0 0 +PA166352143 643909 HGNC:45034 speedy/RINGO cell cycle regulator family member E9 SPDYE9 SPDYE9P Yes No HGNC:HGNC:45034, NCBI Gene:643909 No 0 0 0 0 +PA164718712 92521 HGNC:30615 ENSG00000128487 sperm antigen with calponin homology and coiled-coil domains 1 SPECC1 cytokinesis and spindle organization B, cytospin B, sperm antigen HCMOGT 1 CYTSB, FLJ36955, HCMOGT-1, NSP Yes No Ensembl:ENSG00000128487, GeneCard:CYTSB, HGNC:HGNC:30615, HumanCyc Gene:HS13261, NCBI Gene:92521, OMIM:608793, RefSeq DNA:NT_010718, RefSeq Protein:NP_001028725, RefSeq Protein:NP_001028726, RefSeq Protein:NP_001028727, RefSeq Protein:NP_690868, RefSeq RNA:NM_001033553, RefSeq RNA:NM_001033554, RefSeq RNA:NM_001033555, RefSeq RNA:NM_152904, UniProtKB:Q5M775 No chr17 19912649 20218072 20009301 20319026 +PA164718673 23384 HGNC:29022 ENSG00000100014 sperm antigen with calponin homology and coiled-coil domains 1 like SPECC1L cytokinesis and spindle organization A, cytospin A, sperm antigen with calponin homology and coiled-coil domains 1-like CYTSA, KIAA0376 Yes Yes Ensembl:ENSG00000100014, GeneCard:CYTSA, HGNC:HGNC:29022, NCBI Gene:23384, RefSeq DNA:NT_011520, RefSeq Protein:NP_001138940, RefSeq Protein:NP_056145, RefSeq RNA:NM_001145468, RefSeq RNA:NM_015330, UniProtKB:B2RMV2, UniProtKB:Q69YQ0 No chr22 24666785 24813708 24270817 24417740 +PA162404432 25876 HGNC:15874 ENSG00000101222 sperm flagellar 1 SPEF1 CaLponin-homology And Microtubule-associated Protein C20orf28, CLAMP, DKFZP434I114, SPEF1A Yes No Ensembl:ENSG00000101222, GeneCard:SPEF1, HGNC:HGNC:15874, HumanCyc Gene:HS12446, NCBI Gene:25876, OMIM:610674, RefSeq DNA:NT_011387, RefSeq Protein:NP_056232, RefSeq RNA:NM_015417, UniProtKB:Q9Y4P9 No chr20 3758151 3762113 3777504 3781466 +PA162404451 79925 HGNC:26293 ENSG00000152582 sperm flagellar 2 SPEF2 cancer/testis antigen 122 CT122, FLJ23577, KPL2 Yes No Ensembl:ENSG00000152582, GeneCard:SPEF2, HGNC:HGNC:26293, ModBase:Q9C093, NCBI Gene:79925, OMIM:610172, RefSeq DNA:NT_006576, RefSeq Protein:NP_079143, RefSeq Protein:NP_653323, RefSeq RNA:NM_024867, RefSeq RNA:NM_144722, UniProtKB:Q9C093 No chr5 35617900 35814713 35617773 35814611 +PA142672598 10290 HGNC:16901 ENSG00000072195 striated muscle enriched protein kinase SPEG SPEG complex locus, striated muscle preferentially expressed protein kinase APEG1, BPEG, KIAA1297, MGC12676, MYLK6, SPEGalpha, SPEGbeta Yes No Comparative Toxicogenomics Database:10290, Ensembl:ENSG00000072195, GeneCard:SPEG, HGNC:HGNC:16901, ModBase:Q9P2P9, NCBI Gene:10290, RefSeq DNA:NT_005403, RefSeq Protein:NP_001166947, RefSeq Protein:NP_005867, RefSeq RNA:NM_001173476, RefSeq RNA:NM_005876, UniProtKB:Q15772 No chr2 220299552 220358354 219434215 219493632 +PA166181657 100996693 HGNC:51251 ENSG00000286095 SPEG neighbor SPEGNB Yes No Ensembl:ENSG00000286095, HGNC:HGNC:51251, NCBI Gene:100996693 No 0 0 0 0 +PA162404476 374768 HGNC:32429 ENSG00000181323 spermatid maturation 1 SPEM1 C17orf83, FLJ40081 Yes No Ensembl:ENSG00000181323, GeneCard:SPEM1, HGNC:HGNC:32429, ModBase:Q8N4L4, NCBI Gene:374768, RefSeq DNA:NT_010718, RefSeq Protein:NP_955371, RefSeq RNA:NM_199339, UniProtKB:Q8N4L4 No chr17 7323652 7324956 7420360 7421632 +PA142672222 201243 HGNC:27315 ENSG00000184560 SPEM family member 2 SPEM2 chromosome 17 open reading frame 74 C17orf74 Yes No Ensembl:ENSG00000184560, GeneCard:C17orf74, HGNC:HGNC:27315, NCBI Gene:201243, RefSeq DNA:NT_010718, RefSeq Protein:NP_783861, RefSeq RNA:NM_175734, UniProtKB:Q0P670 No chr17 7328851 7330887 7424874 7427568 +PA166181658 107983988 HGNC:53651 ENSG00000283439 SPEM family member 3 SPEM3 Yes No Ensembl:ENSG00000283439, HGNC:HGNC:53651, NCBI Gene:107983988 No 0 0 0 0 +PA134895302 23013 HGNC:17575 ENSG00000065526 spen family transcriptional repressor SPEN spen homolog, transcriptional regulator (Drosophila) KIAA0929, MINT, RBM15C, SHARP Yes No Comparative Toxicogenomics Database:23013, Ensembl:ENSG00000065526, GeneCard:SPEN, HGNC:HGNC:17575, HumanCyc Gene:HS00844, ModBase:Q96T58, NCBI Gene:23013, OMIM:613484, RefSeq DNA:NT_004610, RefSeq Protein:NP_055816, RefSeq RNA:NM_015001, UniProtKB:Q96T58 No chr1 16174359 16266951 15847864 15940455 +PA37980 246777 HGNC:15570 ENSG00000258484 sperm equatorial segment protein 1 SPESP1 SP-ESP Yes No Ensembl:ENSG00000258484, GenAtlas:SPESP1, GeneCard:SPESP1, HGNC:HGNC:15570, HumanCyc Gene:HS16460, NCBI Gene:246777, OMIM:609399, RefSeq DNA:NT_010194, RefSeq Protein:NP_663633, RefSeq RNA:NM_145658, UCSC Genome Browser:NM_145658, UniProtKB:Q6UW49 No chr15 69222839 69239150 68930500 68946811 +PA36058 80208 HGNC:11226 ENSG00000104133 SPG11 vesicle trafficking associated, spatacsin SPG11 """SPG11, spatacsin vesicle trafficking associated"", ""spastic paraplegia 11 (autosomal recessive)"", ""spatacsin""" ALS5, FLJ21439, KIAA1840 Yes No Ensembl:ENSG00000104133, GenAtlas:SPG11, GeneCard:SPG11, HGNC:HGNC:11226, NCBI Gene:80208, OMIM:604360, OMIM:610844, RefSeq DNA:NG_008885, RefSeq DNA:NT_010194, RefSeq Protein:NP_001153699, RefSeq Protein:NP_079413, RefSeq RNA:NM_001160227, RefSeq RNA:NM_025137, UniProtKB:B9EK60, UniProtKB:Q96JI7 No chr15 44854894 44955876 44562696 44663678 +PA134921126 51324 HGNC:20373 ENSG00000090487 SPG21 abhydrolase domain containing, maspardin SPG21 """SPG21, maspardin"", ""maspardin"", ""spastic paraplegia 21 (autosomal recessive, Mast syndrome)""" ABHD21, ACP33, BM-019, GL010, MAST Yes No Comparative Toxicogenomics Database:51324, Ensembl:ENSG00000090487, GeneCard:SPG21, HGNC:HGNC:20373, HumanCyc Gene:HS01690, ModBase:Q9NZD8, NCBI Gene:51324, OMIM:248900, OMIM:608181, RefSeq DNA:NG_008992, RefSeq DNA:NT_010194, RefSeq Protein:NP_001121361, RefSeq Protein:NP_001121362, RefSeq Protein:NP_057714, RefSeq RNA:NM_001127889, RefSeq RNA:NM_001127890, RefSeq RNA:NM_016630, UniProtKB:Q9NZD8 No chr15 65255363 65282251 64963021 64989946 +PA36067 6687 HGNC:11237 ENSG00000197912 SPG7 matrix AAA peptidase subunit, paraplegin SPG7 """SPG7, paraplegin matrix AAA peptidase subunit"", ""paraplegin"", ""spastic paraplegia 7 (pure and complicated autosomal recessive)""" CAR, CMAR, SPG5C Yes Yes Comparative Toxicogenomics Database:6687, Ensembl:ENSG00000197912, GenAtlas:SPG7, GeneCard:SPG7, HGNC:HGNC:11237, ModBase:Q9UQ90, NCBI Gene:6687, OMIM:602783, OMIM:607259, RefSeq DNA:NG_008082, RefSeq DNA:NT_010542, RefSeq Protein:NP_003110, RefSeq Protein:NP_955399, RefSeq RNA:NM_003119, RefSeq RNA:NM_199367, UCSC Genome Browser:NM_003119, UniProtKB:Q9UQ90 No chr16 89574802 89624174 89508379 89557768 +PA166352153 HGNC:16957 S-phase response (cyclin related) SPHAR Yes No HGNC:HGNC:16957 No 0 0 0 0 +PA36070 8877 HGNC:11240 ENSG00000176170 sphingosine kinase 1 SPHK1 SPHK Yes No Comparative Toxicogenomics Database:8877, Ensembl:ENSG00000176170, GenAtlas:SPHK1, GeneCard:SPHK1, HGNC:HGNC:11240, HumanCyc Gene:HS11008, ModBase:Q9NYA1, NCBI Gene:8877, OMIM:603730, RefSeq DNA:NT_010783, RefSeq Protein:NP_001136073, RefSeq Protein:NP_001136074, RefSeq Protein:NP_068807, RefSeq Protein:NP_892010, RefSeq RNA:NM_001142601, RefSeq RNA:NM_001142602, RefSeq RNA:NM_021972, RefSeq RNA:NM_182965, UCSC Genome Browser:NM_021972, UniProtKB:Q53ZR5, UniProtKB:Q96GK1, UniProtKB:Q9NYA1 No chr17 74372742 74383941 76382977 76387860 +PA38719 56848 HGNC:18859 ENSG00000063176 sphingosine kinase 2 SPHK2 Yes No Comparative Toxicogenomics Database:56848, Ensembl:ENSG00000063176, GenAtlas:SPHK2, GeneCard:SPHK2, HGNC:HGNC:18859, HumanCyc Gene:HS00776, ModBase:Q9NRA0, NCBI Gene:56848, OMIM:607092, RefSeq DNA:NT_011109, RefSeq Protein:NP_001191087, RefSeq Protein:NP_001191088, RefSeq Protein:NP_001191089, RefSeq Protein:NP_064511, RefSeq RNA:NM_001204158, RefSeq RNA:NM_001204159, RefSeq RNA:NM_001204160, RefSeq RNA:NM_020126, UCSC Genome Browser:NM_020126, UniProtKB:Q9NRA0 No chr19 49122548 49133974 48619291 48630407 +PA162404477 80309 HGNC:30619 ENSG00000153820 SPHK1 interactor, AKAP domain containing SPHKAP sphingosine kinase type 1-interacting protein SKIP Yes No Ensembl:ENSG00000153820, GeneCard:SPHKAP, HGNC:HGNC:30619, NCBI Gene:80309, OMIM:611646, RefSeq DNA:NT_005403, RefSeq Protein:NP_001136116, RefSeq Protein:NP_085126, RefSeq RNA:NM_001142644, RefSeq RNA:NM_030623, UniProtKB:Q2M3C7 No chr2 228844670 229046836 227979954 228181999 +PA36071 6688 HGNC:11241 ENSG00000066336 Spi-1 proto-oncogene SPI1 31 kDa transforming protein, SPI-1 proto-oncogene, hematopoietic transcription factor PU.1, spleen focus forming virus (SFFV) proviral integration oncogene spi1 OF, PU.1, SFPI1, SPI-1, SPI-A Yes No Comparative Toxicogenomics Database:6688, Ensembl:ENSG00000066336, GenAtlas:SPI1, GeneCard:SPI1, HGNC:HGNC:11241, HumanCyc Gene:HS00874, ModBase:P17947, NCBI Gene:6688, OMIM:165170, RefSeq DNA:NT_009237, RefSeq Protein:NP_001074016, RefSeq Protein:NP_003111, RefSeq RNA:NM_001080547, RefSeq RNA:NM_003120, UCSC Genome Browser:NM_003120, UniProtKB:P17947 No chr11 47376409 47400127 47354858 47395640 +PA36072 6689 HGNC:11242 ENSG00000269404 Spi-B transcription factor SPIB Spi-B transcription factor (Spi-1/PU.1 related) SPI-B Yes No Comparative Toxicogenomics Database:6689, Ensembl:ENSG00000269404, GenAtlas:SPIB, GeneCard:SPIB, HGNC:HGNC:11242, HumanCyc Gene:HS06934, ModBase:Q01892, NCBI Gene:6689, OMIM:606802, RefSeq DNA:NT_011109, RefSeq Protein:NP_003112, RefSeq RNA:NM_003121, UCSC Genome Browser:NM_003121, UniProtKB:Q01892 No chr19 50922195 50934310 50418938 50431053 +PA134897775 121599 HGNC:29549 ENSG00000166211 Spi-C transcription factor SPIC Spi-C transcription factor (Spi-1/PU.1 related) MGC40611, SPI-C Yes No Comparative Toxicogenomics Database:121599, Ensembl:ENSG00000166211, GeneCard:SPIC, HGNC:HGNC:29549, HumanCyc Gene:HS09356, ModBase:Q8N5J4, NCBI Gene:121599, OMIM:612568, RefSeq DNA:NT_029419, RefSeq Protein:NP_689536, RefSeq RNA:NM_152323, UniProtKB:Q8N5J4 No chr12 101869133 101880954 101475276 101486997 +PA142672168 152185 HGNC:25083 ENSG00000163611 spindle and centriole associated protein 1 SPICE1 spindle and centriole protein CCDC52, SPICE Yes No Comparative Toxicogenomics Database:152185, Ensembl:ENSG00000163611, GeneCard:CCDC52, HGNC:HGNC:25083, HumanCyc Gene:HS15087, NCBI Gene:152185, RefSeq DNA:NT_005612, RefSeq Protein:NP_653319, RefSeq RNA:NM_144718, UniProtKB:Q8N0Z3 No chr3 113161565 113234034 113442718 113515187 +PA142671636 23514 HGNC:28971 ENSG00000164808 scaffold protein involved in DNA repair SPIDR scaffolding protein involved in DNA repair KIAA0146 Yes Yes Ensembl:ENSG00000164808, GeneCard:KIAA0146, HGNC:HGNC:28971, NCBI Gene:23514, RefSeq DNA:NT_008183, RefSeq DNA:NT_113909, RefSeq Protein:NP_001073863, RefSeq Protein:XP_003403621, RefSeq RNA:NM_001080394, RefSeq RNA:XM_003403573, UniProtKB:Q14159 No chr8 48173489 48648563 47260878 47736001 +PA162404504 10927 HGNC:11243 ENSG00000106723 spindlin 1 SPIN1 SPIN, TDRD24 Yes No Ensembl:ENSG00000106723, GeneCard:SPIN1, HGNC:HGNC:11243, HumanCyc Gene:HS02946, ModBase:Q9Y657, NCBI Gene:10927, OMIM:609936, RefSeq DNA:NT_008470, RefSeq Protein:NP_006708, RefSeq RNA:NM_006717, UniProtKB:A8K0X6, UniProtKB:Q9Y657 No chr9 91002584 91093623 88388382 88478708 +PA162404521 54466 HGNC:20694 ENSG00000147059 spindlin family member 2A SPIN2A spindlin family, member 2A DXF34, SPIN2, TDRD25 Yes No Ensembl:ENSG00000147059, GeneCard:SPIN2A, HGNC:HGNC:20694, HumanCyc Gene:HS07386, NCBI Gene:54466, OMIM:300621, RefSeq DNA:NG_016252, RefSeq DNA:NT_011630, RefSeq Protein:NP_061876, RefSeq RNA:NM_019003 No chrX 57162036 57164093 57134259 57138688 +PA162404530 474343 HGNC:33147 ENSG00000186787 spindlin family member 2B SPIN2B spindlin family, member 2B SPIN-2, TDRD26 Yes No Ensembl:ENSG00000186787, GeneCard:SPIN2B, HGNC:HGNC:33147, ModBase:Q9BPZ2, NCBI Gene:474343, OMIM:300517, RefSeq DNA:NT_011630, RefSeq Protein:NP_001006682, RefSeq Protein:NP_001006683, RefSeq Protein:NP_001006684, RefSeq RNA:NM_001006681, RefSeq RNA:NM_001006682, RefSeq RNA:NM_001006683, UniProtKB:Q9BPZ2 No chrX 57146115 57147989 57112142 57121905 +PA134909757 169981 HGNC:27272 ENSG00000204271 spindlin family member 3 SPIN3 spindlin family, member 3 TDRD27 Yes No Ensembl:ENSG00000204271, GeneCard:SPIN3, HGNC:HGNC:27272, ModBase:Q5JUX0, NCBI Gene:169981, RefSeq DNA:NT_011630, RefSeq Protein:NP_001010862, RefSeq RNA:NM_001010862, RefSeq RNA:NR_027139, UniProtKB:Q5JUX0 No chrX 57002803 57021988 56976370 56995801 +PA162404539 139886 HGNC:27040 ENSG00000186767 spindlin family member 4 SPIN4 spindlin family, member 4 FLJ44984, TDRD28 Yes No Ensembl:ENSG00000186767, GeneCard:SPIN4, HGNC:HGNC:27040, ModBase:Q56A73, NCBI Gene:139886, RefSeq DNA:NT_011669, RefSeq Protein:NP_001012986, RefSeq RNA:NM_001012968, UniProtKB:Q56A73 No chrX 62567107 62571218 63347228 63351339 +PA162377769 144097 HGNC:25115 ENSG00000168005 spindlin interactor and repressor of chromatin binding SPINDOC chromosome 11 open reading frame 84, hypothetical protein BC007540 C11orf84, SPIN-DOC Yes No Ensembl:ENSG00000168005, GeneCard:C11orf84, HGNC:HGNC:25115, NCBI Gene:144097, RefSeq DNA:NT_167190, RefSeq Protein:NP_612480, RefSeq RNA:NM_138471, UniProtKB:Q9BUA3 No chr11 63580846 63595190 63813374 63827718 +PA36074 6690 HGNC:11244 ENSG00000164266 serine peptidase inhibitor Kazal type 1 SPINK1 serine peptidase inhibitor, Kazal type 1 PCTT, PSTI, Spink3, TATI Yes Yes Comparative Toxicogenomics Database:6690, Ensembl:ENSG00000164266, GenAtlas:SPINK1, GeneCard:SPINK1, HGNC:HGNC:11244, HumanCyc Gene:HS09049, ModBase:P00995, NCBI Gene:6690, OMIM:167790, OMIM:167800, OMIM:608189, RefSeq DNA:NG_008356, RefSeq DNA:NT_029289, RefSeq Protein:NP_003113, RefSeq RNA:NM_003122, UCSC Genome Browser:NM_003122, UniProtKB:P00995 No chr5 147204143 147218794 147824580 147839231 +PA165660568 153218 HGNC:27200 ENSG00000214510 serine peptidase inhibitor Kazal type 13 SPINK13 serine peptidase inhibitor, Kazal type 13 (putative) HBVDNAPTP1, HESPINTOR, LiESP6, MGC149260, SPINK5L3 Yes No Ensembl:ENSG00000214510, GeneCard:SPINK13, HGNC:HGNC:27200, NCBI Gene:153218, RefSeq DNA:NT_029289, RefSeq Protein:NP_001035218, RefSeq RNA:NM_001040129, UniProtKB:Q1W4C9 No chr5 147648423 147665773 148268860 148286210 +PA165660569 408187 HGNC:33825 ENSG00000196800 serine peptidase inhibitor Kazal type 14 (putative) SPINK14 serine peptidase inhibitor, Kazal type 14 (putative) SPINK5L2 Yes No Ensembl:ENSG00000196800, GeneCard:SPINK14, HGNC:HGNC:33825, NCBI Gene:408187, RefSeq DNA:NT_029289, RefSeq Protein:NP_001001325, RefSeq RNA:NM_001001325, UniProtKB:Q6IE38 No chr5 147548109 147555182 148146372 148176076 +PA36075 6691 HGNC:11245 ENSG00000128040 serine peptidase inhibitor Kazal type 2 SPINK2 """acrosin-trypsin inhibitor"", ""serine peptidase inhibitor, Kazal type 2"", ""serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)""" HUSI-II Yes No Ensembl:ENSG00000128040, GenAtlas:SPINK2, GeneCard:SPINK2, HGNC:HGNC:11245, HumanCyc Gene:HS05153, ModBase:P20155, NCBI Gene:6691, OMIM:605753, RefSeq DNA:NT_022853, RefSeq Protein:NP_066937, RefSeq RNA:NM_021114, UCSC Genome Browser:NM_021114, UniProtKB:P20155, UniProtKB:Q6FGH2 No chr4 57676026 57688035 56809860 56822210 +PA38180 27290 HGNC:16646 ENSG00000122711 serine peptidase inhibitor Kazal type 4 SPINK4 serine peptidase inhibitor, Kazal type 4 MGC133107, PEC-60 Yes No Comparative Toxicogenomics Database:27290, Ensembl:ENSG00000122711, GenAtlas:SPINK4, GeneCard:SPINK4, HGNC:HGNC:16646, HumanCyc Gene:HS04595, ModBase:O60575, NCBI Gene:27290, RefSeq DNA:NT_008413, RefSeq Protein:NP_055286, RefSeq RNA:NM_014471, UCSC Genome Browser:NM_014471, UniProtKB:O60575 No chr9 33240196 33248565 33240198 33248567 +PA37962 11005 HGNC:15464 ENSG00000133710 serine peptidase inhibitor Kazal type 5 SPINK5 """lymphoepithelial Kazal-type-related inhibitor"", ""serine peptidase inhibitor, Kazal type 5""" DKFZp686K19184, FLJ21544, FLJ97536, FLJ97596, FLJ99794, LEKTI, LETKI, NETS, NS, VAKTI Yes Yes Comparative Toxicogenomics Database:11005, Ensembl:ENSG00000133710, GenAtlas:SPINK5, GeneCard:SPINK5, HGNC:HGNC:15464, HumanCyc Gene:HS05782, ModBase:Q9NQ38, NCBI Gene:11005, OMIM:147050, OMIM:256500, OMIM:605010, RefSeq DNA:NG_009633, RefSeq DNA:NT_029289, RefSeq Protein:NP_001121170, RefSeq Protein:NP_001121171, RefSeq Protein:NP_006837, RefSeq RNA:NM_001127698, RefSeq RNA:NM_001127699, RefSeq RNA:NM_006846, UCSC Genome Browser:NM_006846, UniProtKB:Q3LX95, UniProtKB:Q3LX96, UniProtKB:Q3LX97, UniProtKB:Q9NQ38 No chr5 147443535 147516925 148063972 148137362 +PA134915474 404203 HGNC:29486 ENSG00000178172 serine peptidase inhibitor Kazal type 6 SPINK6 """protease inhibitor H"", ""serine peptidase inhibitor, Kazal type 6""" BUSI2, MGC21394, UNQ844 Yes No Ensembl:ENSG00000178172, GeneCard:SPINK6, HGNC:HGNC:29486, ModBase:Q6UWN8, NCBI Gene:404203, RefSeq DNA:NT_029289, RefSeq Protein:NP_001182219, RefSeq Protein:NP_995313, RefSeq RNA:NM_001195290, RefSeq RNA:NM_205841, UniProtKB:Q6UWN8 No chr5 147582357 147594700 148202794 148215137 +PA143485620 84651 HGNC:24643 ENSG00000145879 serine peptidase inhibitor Kazal type 7 SPINK7 """esophagus cancer related gene 2"", ""serine peptidase inhibitor, Kazal type 7 (putative)""" ECG2, ECRG2 Yes No Ensembl:ENSG00000145879, GeneCard:SPINK7, HGNC:HGNC:24643, HumanCyc Gene:HS07297, ModBase:P58062, NCBI Gene:84651, RefSeq DNA:NT_029289, RefSeq Protein:NP_115955, RefSeq RNA:NM_032566, UniProtKB:P58062 No chr5 147691990 147695482 148312427 148315919 +PA162404546 646424 HGNC:33160 ENSG00000229453 serine peptidase inhibitor Kazal type 8 (putative) SPINK8 serine peptidase inhibitor, Kazal type 8 (putative) Yes No Ensembl:ENSG00000229453, GeneCard:SPINK8, HGNC:HGNC:33160, ModBase:P0C7L1, NCBI Gene:646424, RefSeq DNA:NT_022517, RefSeq Protein:NP_001073994, RefSeq RNA:NM_001080525, UniProtKB:P0C7L1 No chr3 48348336 48369831 48306846 48330311 +PA162404560 643394 HGNC:32951 ENSG00000204909 serine peptidase inhibitor Kazal type 9 SPINK9 serine peptidase inhibitor, Kazal type 9 Yes No Ensembl:ENSG00000204909, GeneCard:SPINK9, HGNC:HGNC:32951, ModBase:Q5DT21, NCBI Gene:643394, OMIM:613511, RefSeq DNA:NT_029289, RefSeq Protein:NP_001035523, RefSeq RNA:NM_001040433, UniProtKB:Q5DT21 No chr5 147715122 147719412 148323219 148341974 +PA36076 6692 HGNC:11246 ENSG00000166145 serine peptidase inhibitor, Kunitz type 1 SPINT1 HAI, HAI-1, MANSC2 Yes No Comparative Toxicogenomics Database:6692, Ensembl:ENSG00000166145, GenAtlas:SPINT1, GeneCard:SPINT1, HGNC:HGNC:11246, HumanCyc Gene:HS09337, ModBase:O43278, NCBI Gene:6692, OMIM:605123, RefSeq DNA:NT_010194, RefSeq Protein:NP_001027539, RefSeq Protein:NP_003701, RefSeq Protein:NP_857593, RefSeq RNA:NM_001032367, RefSeq RNA:NM_003710, RefSeq RNA:NM_181642, UCSC Genome Browser:NM_003710, UniProtKB:O43278 No chr15 41136246 41149853 40844018 40857655 +PA36077 10653 HGNC:11247 ENSG00000167642 serine peptidase inhibitor, Kunitz type 2 SPINT2 """HGF activator inhibitor 2"", ""Kunitz domain containing protein overexpressed in pancreatic cancer"", ""hepatocyte growth factor activator inhibitor-2"", ""placental bikunin"", ""serine peptidase inhibitor, Kunitz type, 2""" HAI-2, HAI2, Kop Yes No Comparative Toxicogenomics Database:10653, Ensembl:ENSG00000167642, GenAtlas:SPINT2, GeneCard:SPINT2, HGNC:HGNC:11247, HumanCyc Gene:HS09596, ModBase:O43291, NCBI Gene:10653, OMIM:270420, OMIM:605124, RefSeq DNA:NG_013372, RefSeq DNA:NT_011109, RefSeq Protein:NP_001159575, RefSeq Protein:NP_066925, RefSeq RNA:NM_001166103, RefSeq RNA:NM_021102, UCSC Genome Browser:NM_021102, UniProtKB:O43291 No chr19 38755098 38783254 38264458 38292614 +PA36078 10816 HGNC:11248 ENSG00000101446 serine peptidase inhibitor, Kunitz type 3 SPINT3 serine peptidase inhibitor, Kunitz type, 3 HKIB9 Yes No Ensembl:ENSG00000101446, GenAtlas:SPINT3, GeneCard:SPINT3, HGNC:HGNC:11248, HumanCyc Gene:HS02275, NCBI Gene:10816, RefSeq DNA:NT_011362, RefSeq Protein:NP_006643, RefSeq RNA:NM_006652, UniProtKB:P49223 No chr20 44141101 44144264 45512461 45515624 +PA25679 391253 HGNC:16130 ENSG00000149651 serine peptidase inhibitor, Kunitz type 4 SPINT4 C20orf137, dJ601O1.1 Yes No Ensembl:ENSG00000149651, GenAtlas:SPINT4, GeneCard:SPINT4, HGNC:HGNC:16130, ModBase:Q6UDR6, NCBI Gene:391253, RefSeq DNA:NT_011362, RefSeq Protein:NP_848550, RefSeq RNA:NM_178455, UniProtKB:Q6UDR6 No chr20 44350988 44354335 45722349 45725696 +PA25710 140863 HGNC:16161 ENSG00000168630 serine peptidase inhibitor, Kunitz type 5, pseudogene SPINT5P dJ447F3.6 Yes No Ensembl:ENSG00000168630, GenAtlas:C20orf168, GeneCard:C20orf168, HGNC:HGNC:16161, NCBI Gene:140863 No chr20 44378559 44378713 45749920 45750074 +PA134895885 56907 HGNC:30622 ENSG00000134278 spire type actin nucleation factor 1 SPIRE1 spire homolog 1 (Drosophila), spire-type actin nucleation factor 1 KIAA1135, spir-1 Yes No Comparative Toxicogenomics Database:56907, Ensembl:ENSG00000134278, GeneCard:SPIRE1, HGNC:HGNC:30622, NCBI Gene:56907, OMIM:609216, RefSeq DNA:NT_010859, RefSeq Protein:NP_001122098, RefSeq Protein:NP_001122099, RefSeq Protein:NP_064533, RefSeq RNA:NM_001128626, RefSeq RNA:NM_001128627, RefSeq RNA:NM_020148, UniProtKB:Q08AE8 No chr18 12446511 12661456 12446512 12658102 +PA134926582 84501 HGNC:30623 ENSG00000204991 spire type actin nucleation factor 2 SPIRE2 spire homolog 2 (Drosophila), spire-type actin nucleation factor 2 KIAA1832, spir-2 Yes No Comparative Toxicogenomics Database:84501, Ensembl:ENSG00000204991, GeneCard:SPIRE2, HGNC:HGNC:30623, NCBI Gene:84501, OMIM:609217, RefSeq DNA:NT_010542, RefSeq Protein:NP_115827, RefSeq RNA:NM_032451, UniProtKB:Q8WWL2 No chr16 89894883 89937727 89817477 89871319 +PA162378591 388381 HGNC:34492 ENSG00000275489 sperm microtubule associated protein 1 SPMAP1 chromosome 17 open reading frame 98 C17orf98, LOC388381 Yes No Ensembl:ENSG00000275489, GeneCard:C17orf98, HGNC:HGNC:34492, NCBI Gene:388381, RefSeq DNA:NT_010783, RefSeq Protein:NP_001073934, RefSeq RNA:NM_001080465, UniProtKB:A8MV24 No chr17 36991341 36997642 38835088 38841389 +PA134953737 51298 HGNC:13706 ENSG00000105549 sperm microtubule associated protein 2 SPMAP2 cancer/testis antigen 56, theg spermatid protein CT56, THEG, THEG1 Yes No Ensembl:ENSG00000105549, GeneCard:THEG, HGNC:HGNC:13706, HumanCyc Gene:HS02759, ModBase:Q9P2T0, NCBI Gene:51298, OMIM:609503, RefSeq DNA:NT_011255, RefSeq Protein:NP_057669, RefSeq Protein:NP_954672, RefSeq RNA:NM_016585, RefSeq RNA:NM_199202, UniProtKB:Q9P2T0 No chr19 361750 376688 362057 376693 +PA166049101 100506564 HGNC:43771 ENSG00000249693 sperm microtubule associated protein 2 like SPMAP2L theg spermatid protein like, theg spermatid protein-like THEGL Yes No Ensembl:ENSG00000249693, HGNC:HGNC:43771, NCBI Gene:100506564 No chr4 57396775 57469489 56530575 56626214 +PA166180564 100130705 HGNC:52392 ENSG00000272899 sperm microtubule inner protein 1 SPMIP1 ATP6V1F neighbor ATP6V1FNB Yes No Ensembl:ENSG00000272899, HGNC:HGNC:52392, NCBI Gene:100130705 No 0 0 0 0 +PA162380336 389320 HGNC:33767 ENSG00000196900 sperm microtubule inner protein 10 SPMIP10 chromosome 5 open reading frame 48, testis expressed 43, testis specific expressed gene 7 C5orf48, FLJ27505, MGC163367, MGC163369, TEX43, Tseg7 Yes No Ensembl:ENSG00000196900, GeneCard:C5orf48, HGNC:HGNC:33767, ModBase:Q6ZNM6, NCBI Gene:389320, RefSeq DNA:NT_034772, RefSeq Protein:NP_997291, RefSeq RNA:NM_207408, UniProtKB:Q6ZNM6 No chr5 125967414 125971974 126631722 126636282 +PA166181665 255411 HGNC:48628 ENSG00000257987 sperm microtubule inner protein 11 SPMIP11 testis expressed 49 LINC00935, TEX49 Yes No Ensembl:ENSG00000257987, HGNC:HGNC:48628, NCBI Gene:255411 No 0 0 0 0 +PA162379953 152940 HGNC:26342 ENSG00000164123 sperm microtubule inner protein 2 SPMIP2 chromosome 4 open reading frame 45 C4orf45, FLJ25371 Yes No Ensembl:ENSG00000164123, GeneCard:C4orf45, HGNC:HGNC:26342, HumanCyc Gene:HS15154, NCBI Gene:152940, RefSeq DNA:NT_016354, RefSeq Protein:NP_689756, RefSeq RNA:NM_152543, UniProtKB:Q96LM5 No chr4 159814684 159956333 158893532 159082883 +PA142672484 200159 HGNC:30435 ENSG00000173728 sperm microtubule inner protein 3 SPMIP3 chromosome 1 open reading frame 100 C1orf100 Yes No Ensembl:ENSG00000173728, GeneCard:C1orf100, HGNC:HGNC:30435, NCBI Gene:200159, RefSeq DNA:NT_167186, RefSeq Protein:NP_001012988, RefSeq RNA:NM_001012970, UniProtKB:Q5SVJ3 No chr1 244515937 244552390 244352063 244389896 +PA134924921 136895 HGNC:21722 ENSG00000153790 sperm microtubule inner protein 4 SPMIP4 chromosome 7 open reading frame 31 C7orf31 Yes No Ensembl:ENSG00000153790, GeneCard:C7orf31, HGNC:HGNC:21722, HumanCyc Gene:HS14485, NCBI Gene:136895, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_620166, RefSeq RNA:NM_138811, UniProtKB:Q8N865 No chr7 25164819 25219966 25134697 25180748 +PA134919914 143379 HGNC:28500 ENSG00000165863 sperm microtubule inner protein 5 SPMIP5 chromosome 10 open reading frame 82 C10orf82, Em:AC016825.4, MGC33547 Yes No Ensembl:ENSG00000165863, GeneCard:C10orf82, HGNC:HGNC:28500, HumanCyc Gene:HS15374, NCBI Gene:143379, RefSeq DNA:NT_030059, RefSeq Protein:NP_653262, RefSeq RNA:NM_144661, UniProtKB:Q8WW14 No chr10 118423207 118429765 116662211 116670305 +PA134950467 84688 HGNC:19919 ENSG00000164972 sperm microtubule inner protein 6 SPMIP6 chromosome 9 open reading frame 24, ciliated bronchial epithelium 1, spermatid-specific manchette-related protein 1 C9orf24, CBE1, MGC32921, MGC33614, NYD-SP22, SMRP1, bA573M23.4 Yes No Ensembl:ENSG00000164972, GeneCard:C9orf24, HGNC:HGNC:19919, HumanCyc Gene:HS15267, NCBI Gene:84688, RefSeq DNA:NT_008413, RefSeq Protein:NP_115985, RefSeq Protein:NP_671697, RefSeq Protein:NP_671698, RefSeq RNA:NM_032596, RefSeq RNA:NM_147168, RefSeq RNA:NM_147169, UniProtKB:Q5T598, UniProtKB:Q8NCR6 No chr9 34379017 34397898 34379019 34400833 +PA165617678 100130988 HGNC:22564 ENSG00000164500 sperm microtubule inner protein 7 SPMIP7 chromosome 7 open reading frame 72, spermatogenesis associated 48 C7orf72, SPATA48 Yes No Ensembl:ENSG00000164500, GeneCard:C7orf72, HGNC:HGNC:22564, NCBI Gene:100130988, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001155306, RefSeq Protein:XP_001713940, RefSeq Protein:XP_001714428, RefSeq Protein:XP_001714988, RefSeq Protein:XP_002344349, RefSeq RNA:NM_001161834, RefSeq RNA:XM_001713888, RefSeq RNA:XM_001714376, RefSeq RNA:XM_001714936, RefSeq RNA:XM_002344308, UniProtKB:A4D263 No chr7 50135682 50198852 50095861 50159256 +PA165450719 374739 HGNC:33745 ENSG00000159648 sperm microtubule inner protein 8 SPMIP8 testis, prostate and placenta expressed TEPP Yes No Ensembl:ENSG00000159648, GeneCard:TEPP, HGNC:HGNC:33745, NCBI Gene:374739, OMIM:610264, RefSeq DNA:NT_010498, RefSeq Protein:NP_950247, RefSeq Protein:NP_955535, RefSeq RNA:NM_199046, RefSeq RNA:NM_199456, UniProtKB:Q6URK8 No chr16 58010339 58022020 57976435 57988116 +PA162379191 200523 HGNC:26341 ENSG00000172073 sperm microtubule inner protein 9 SPMIP9 Testis-Specific Conserved gene 21kDa, testis expressed 37 C2orf51, FLJ25369, TEX37, TSC21 Yes No Ensembl:ENSG00000172073, GeneCard:C2orf51, HGNC:HGNC:26341, HumanCyc Gene:HS10448, ModBase:Q96LM6, NCBI Gene:200523, RefSeq DNA:NT_022184, RefSeq Protein:NP_689883, RefSeq RNA:NM_152670, UniProtKB:Q96LM6 No chr2 88824115 88829196 88524623 88529585 +PA36079 6693 HGNC:11249 ENSG00000197471 sialophorin SPN leukosialin CD43, GPL115, LEU-22, LSN Yes No Comparative Toxicogenomics Database:6693, Ensembl:ENSG00000197471, GenAtlas:SPN, GeneCard:SPN, HGNC:HGNC:11249, ModBase:P16150, NCBI Gene:6693, OMIM:182160, RefSeq DNA:NT_010393, RefSeq Protein:NP_001025459, RefSeq Protein:NP_003114, RefSeq RNA:NM_001030288, RefSeq RNA:NM_003123, UCSC Genome Browser:NM_003123, UniProtKB:A8K9B1, UniProtKB:P16150 No chr16 29674271 29681828 29662950 29670507 +PA162404561 83985 HGNC:30621 ENSG00000169682 SPNS lysolipid transporter 1, lysophospholipid SPNS1 solute carrier family 63 member 1, sphingolipid transporter 1 (putative), spinster homolog 1 (Drosophila) HSpin1, LAT, PP2030, SLC62A1, SLC63A1, SPIN1, SPINL, nrs Yes No Ensembl:ENSG00000169682, GeneCard:SPNS1, HGNC:HGNC:30621, HumanCyc Gene:HS09987, ModBase:Q9BRN5, NCBI Gene:83985, OMIM:612583, RefSeq DNA:NT_010393, RefSeq Protein:NP_001135920, RefSeq Protein:NP_001135921, RefSeq Protein:NP_001135922, RefSeq Protein:NP_001135923, RefSeq Protein:NP_114427, RefSeq RNA:NM_001142448, RefSeq RNA:NM_001142449, RefSeq RNA:NM_001142450, RefSeq RNA:NM_001142451, RefSeq RNA:NM_032038, UniProtKB:Q9H2V7 No chr16 28986028 28995869 28974767 28984769 +PA162404590 124976 HGNC:26992 ENSG00000183018 SPNS lysolipid transporter 2, sphingosine-1-phosphate SPNS2 solute carrier family 63 member 2, sphingolipid transporter 2, spinster homolog 2 (Drosophila) SLC62A2, SLC63A2 Yes No Ensembl:ENSG00000183018, GeneCard:SPNS2, HGNC:HGNC:26992, ModBase:Q8IVW8, NCBI Gene:124976, OMIM:612584, RefSeq DNA:NT_010718, RefSeq Protein:NP_001118230, RefSeq RNA:NM_001124758, UniProtKB:Q8IVW8 No chr17 4402129 4443228 4498834 4539933 +PA162404621 201305 HGNC:28433 ENSG00000182557 SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) SPNS3 solute carrier family 63 member 3, sphingolipid transporter 3 (putative), spinster homolog 3 (Drosophila) MGC29671, SLC62A3, SLC63A3 Yes No Ensembl:ENSG00000182557, GeneCard:SPNS3, HGNC:HGNC:28433, ModBase:Q6ZMD2, NCBI Gene:201305, OMIM:611701, RefSeq DNA:NT_010718, RefSeq Protein:NP_872344, RefSeq RNA:NM_182538, UniProtKB:Q6ZMD2 No chr17 4337219 4391499 4433924 4488204 +PA36080 23626 HGNC:11250 ENSG00000054796 SPO11 initiator of meiotic double strand breaks SPO11 """SPO11 initiator of meiotic double stranded breaks"", ""SPO11 meiotic protein covalently bound to DSB"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"", ""SPO11, initiator of meiotic double stranded breaks"", ""cancer/testis antigen 35"", ""spermatogenesis associated 43""" CT35, SPATA43, TOPOVIA, TOPVIA Yes No Ensembl:ENSG00000054796, GenAtlas:SPO11, GeneCard:SPO11, HGNC:HGNC:11250, HumanCyc Gene:HS00676, ModBase:Q9Y5K1, NCBI Gene:23626, OMIM:605114, RefSeq DNA:NT_011362, RefSeq Protein:NP_036576, RefSeq Protein:NP_937998, RefSeq RNA:NM_012444, RefSeq RNA:NM_198265, UCSC Genome Browser:NM_012444, UniProtKB:Q9Y5K1 No chr20 55904831 55919049 57329757 57343993 +PA134930231 90853 HGNC:26338 ENSG00000134668 SPOC domain containing 1 SPOCD1 protein phosphatase 1, regulatory subunit 146 FLJ25348, PPP1R146 Yes No Ensembl:ENSG00000134668, GeneCard:SPOCD1, HGNC:HGNC:26338, HumanCyc Gene:HS05897, ModBase:Q6ZMY3, NCBI Gene:90853, RefSeq DNA:NT_032977, RefSeq Protein:NP_653170, RefSeq RNA:NM_144569, UniProtKB:Q6ZMY3 No chr1 32256023 32281630 31790422 31816051 +PA36081 6695 HGNC:11251 ENSG00000152377 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 SPOCK, TIC1, testican-1 Yes No Ensembl:ENSG00000152377, GenAtlas:SPOCK1, GeneCard:SPOCK1, HGNC:HGNC:11251, HumanCyc Gene:HS07809, ModBase:Q08629, NCBI Gene:6695, OMIM:602264, RefSeq DNA:NT_034772, RefSeq Protein:NP_004589, RefSeq RNA:NM_004598, UCSC Genome Browser:NM_004598, UniProtKB:Q08629 No chr5 136310987 136835018 136975298 137499329 +PA128394560 9806 HGNC:13564 ENSG00000107742 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 SPOCK2 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 KIAA0275, testican-2 Yes No Comparative Toxicogenomics Database:9806, Ensembl:ENSG00000107742, GeneCard:SPOCK2, HGNC:HGNC:13564, HumanCyc Gene:HS03021, ModBase:Q92563, NCBI Gene:9806, OMIM:607988, RefSeq DNA:NT_030059, RefSeq Protein:NP_001127906, RefSeq Protein:NP_055582, RefSeq RNA:NM_001134434, RefSeq RNA:NM_014767, UCSC Genome Browser:NM_014767, UniProtKB:C9J767, UniProtKB:Q92563 No chr10 73818792 73848790 72059034 72089032 +PA134977377 50859 HGNC:13565 ENSG00000196104 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 SPOCK3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 testican-3 Yes No Ensembl:ENSG00000196104, GeneCard:SPOCK3, HGNC:HGNC:13565, ModBase:Q9BQ16, NCBI Gene:50859, OMIM:607989, RefSeq DNA:NT_016354, RefSeq Protein:NP_001035249, RefSeq Protein:NP_001191281, RefSeq Protein:NP_001191282, RefSeq Protein:NP_001191283, RefSeq Protein:NP_001191284, RefSeq Protein:NP_001191285, RefSeq Protein:NP_001191286, RefSeq Protein:NP_001191287, RefSeq Protein:NP_001191288, RefSeq Protein:NP_058646, RefSeq RNA:NM_001040159, RefSeq RNA:NM_001204352, RefSeq RNA:NM_001204353, RefSeq RNA:NM_001204354, RefSeq RNA:NM_001204355, RefSeq RNA:NM_001204356, RefSeq RNA:NM_001204357, RefSeq RNA:NM_001204358, RefSeq RNA:NM_001204359, RefSeq RNA:NM_016950, UniProtKB:Q9BQ16 No chr4 167654535 168155741 166733384 167234869 +PA36082 10418 HGNC:11252 ENSG00000262655 spondin 1 SPON1 spondin 1, extracellular matrix protein KIAA0762, f-spondin Yes No Comparative Toxicogenomics Database:10418, Ensembl:ENSG00000262655, GenAtlas:SPON1, GeneCard:SPON1, HGNC:HGNC:11252, ModBase:Q9HCB6, NCBI Gene:10418, OMIM:604989, RefSeq DNA:NT_009237, RefSeq Protein:NP_006099, RefSeq RNA:NM_006108, UCSC Genome Browser:NM_006108, UniProtKB:Q9HCB6 No chr11 13984184 14289679 13962637 14268133 +PA36083 10417 HGNC:11253 ENSG00000159674 spondin 2 SPON2 """M-spondin"", ""Mindin"", ""spondin 2, extracellular matrix protein""" DIL1 Yes No Comparative Toxicogenomics Database:10417, Ensembl:ENSG00000159674, GenAtlas:SPON2, GeneCard:SPON2, HGNC:HGNC:11253, HumanCyc Gene:HS08415, ModBase:Q9BUD6, NCBI Gene:10417, OMIM:605918, RefSeq DNA:NT_037622, RefSeq Protein:NP_001121797, RefSeq Protein:NP_001185950, RefSeq Protein:NP_036577, RefSeq RNA:NM_001128325, RefSeq RNA:NM_001199021, RefSeq RNA:NM_012445, UCSC Genome Browser:NM_012445, UniProtKB:Q9BUD6 No chr4 1160720 1202750 1166932 1208962 +PA36084 8405 HGNC:11254 ENSG00000121067 speckle type BTB/POZ protein SPOP speckle-type POZ protein BTBD32, TEF2 Yes No Ensembl:ENSG00000121067, GenAtlas:SPOP, GeneCard:SPOP, HGNC:HGNC:11254, HumanCyc Gene:HS04468, ModBase:O43791, NCBI Gene:8405, OMIM:602650, RefSeq DNA:NT_010783, RefSeq Protein:NP_001007227, RefSeq Protein:NP_001007228, RefSeq Protein:NP_001007229, RefSeq Protein:NP_001007230, RefSeq Protein:NP_001007231, RefSeq Protein:NP_003554, RefSeq RNA:NM_001007226, RefSeq RNA:NM_001007227, RefSeq RNA:NM_001007228, RefSeq RNA:NM_001007229, RefSeq RNA:NM_001007230, RefSeq RNA:NM_003563, UCSC Genome Browser:NM_003563, UniProtKB:O43791 No chr17 47676246 47755525 49598884 49678163 +PA162404650 339745 HGNC:27934 ENSG00000144228 speckle type BTB/POZ protein like SPOPL HIB homolog 2, roadkill homolog 2, speckle-type POZ protein-like BTBD33 Yes Yes Ensembl:ENSG00000144228, GeneCard:SPOPL, HGNC:HGNC:27934, ModBase:Q6IQ16, NCBI Gene:339745, RefSeq DNA:NT_022135, RefSeq Protein:NP_001001664, RefSeq RNA:NM_001001664, UniProtKB:Q6IQ16 No chr2 139259350 139330805 138501780 138573235 +PA134958095 51490 HGNC:26933 ENSG00000198917 SPOUT domain containing methyltransferase 1 SPOUT1 centromere protein 32, chromosome 9 open reading frame 114 C9orf114, CENP-32, HSPC109 Yes No Ensembl:ENSG00000198917, GeneCard:C9orf114, HGNC:HGNC:26933, ModBase:Q5T280, NCBI Gene:51490, RefSeq DNA:NT_008470, RefSeq Protein:NP_057474, RefSeq RNA:NM_016390, UniProtKB:Q5T280 No chr9 131581930 131592299 128819651 128833309 +PA36085 6696 HGNC:11255 ENSG00000118785 secreted phosphoprotein 1 SPP1 early T-lymphocyte activation 1 BNSP, BSPI, ETA-1, OPN, lnc-PKD2-2-3 Yes Yes Comparative Toxicogenomics Database:6696, Ensembl:ENSG00000118785, GenAtlas:SPP1, GeneCard:SPP1, HGNC:HGNC:11255, HumanCyc Gene:HS04250, ModBase:P10451, NCBI Gene:6696, OMIM:166490, RefSeq DNA:NT_016354, RefSeq Protein:NP_000573, RefSeq Protein:NP_001035147, RefSeq Protein:NP_001035149, RefSeq RNA:NM_000582, RefSeq RNA:NM_001040058, RefSeq RNA:NM_001040060, UCSC Genome Browser:NM_000582, UniProtKB:B2RDA1, UniProtKB:P10451, UniProtKB:Q4W597, UniProtKB:Q567T5 No chr4 88896802 88904563 87975650 87983411 +PA36086 6694 HGNC:11256 ENSG00000072080 secreted phosphoprotein 2 SPP2 secreted phosphoprotein 2, 24kDa SPP24 Yes No Comparative Toxicogenomics Database:6694, Ensembl:ENSG00000072080, GenAtlas:SPP2, GeneCard:SPP2, HGNC:HGNC:11256, HumanCyc Gene:HS01053, ModBase:Q13103, NCBI Gene:6694, OMIM:602637, RefSeq DNA:NG_008668, RefSeq DNA:NT_005120, RefSeq Protein:NP_008875, RefSeq RNA:NM_006944, UCSC Genome Browser:NM_006944, UniProtKB:Q13103 No chr2 234959346 234985776 234050671 234077134 +PA166048995 84888 HGNC:30227 ENSG00000138600 signal peptide peptidase like 2A SPPL2A intramembrane protease 3, presenilin-like protein 2 IMP3, PSL2 Yes No Ensembl:ENSG00000138600, HGNC:HGNC:30227, NCBI Gene:84888 No chr15 50999730 51057910 50702266 50765713 +PA166049002 56928 HGNC:30627 ENSG00000005206 signal peptide peptidase like 2B SPPL2B intramembrane protease 4 IMP4, KIAA1532, PSL1 Yes No Ensembl:ENSG00000005206, HGNC:HGNC:30627, NCBI Gene:56928 No chr19 2328629 2355100 2328571 2355102 +PA166048986 162540 HGNC:28902 ENSG00000185294 signal peptide peptidase like 2C SPPL2C intramembrane protease 5 IMP5 Yes No Ensembl:ENSG00000185294, HGNC:HGNC:28902, NCBI Gene:162540 No chr17 43922256 43924438 45844890 45847072 +PA166049000 121665 HGNC:30424 ENSG00000157837 signal peptide peptidase like 3 SPPL3 intramembrane protease 2, presenilin-like protein 4 DKFZP586C1324, IMP2, MGC126674, MGC126676, MGC90402, PSL4 Yes No Ensembl:ENSG00000157837, HGNC:HGNC:30424, NCBI Gene:121665 No chr12 121200313 121342155 120762510 120904352 +PA36087 6697 HGNC:11257 ENSG00000116096 sepiapterin reductase SPR """Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)"", ""sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)"", ""short chain dehydrogenase/reductase family 38C, member 1""" SDR38C1 Yes No Comparative Toxicogenomics Database:6697, Ensembl:ENSG00000116096, GenAtlas:SPR, GeneCard:SPR, HGNC:HGNC:11257, HumanCyc Gene:HS03979, ModBase:P35270, NCBI Gene:6697, OMIM:182125, OMIM:612716, RefSeq DNA:NG_008234, RefSeq DNA:NT_022184, RefSeq Protein:NP_003115, RefSeq RNA:NM_003124, UCSC Genome Browser:NM_003124, UniProtKB:P35270 No chr2 73114512 73119289 72887383 72892160 +PA134897382 161742 HGNC:20249 ENSG00000166068 sprouty related EVH1 domain containing 1 SPRED1 """protein phosphatase 1, regulatory subunit 147"", ""sprouty-related, EVH1 domain containing 1""" FLJ33903, PPP1R147, SPRED-1 Yes No Comparative Toxicogenomics Database:161742, Ensembl:ENSG00000166068, GeneCard:SPRED1, HGNC:HGNC:20249, HumanCyc Gene:HS15399, ModBase:Q7Z699, NCBI Gene:161742, OMIM:609291, OMIM:611431, RefSeq DNA:NG_008980, RefSeq DNA:NT_010194, RefSeq Protein:NP_689807, RefSeq RNA:NM_152594, UniProtKB:Q7Z699 No chr15 38544925 38649450 38252087 38357249 +PA134956365 200734 HGNC:17722 ENSG00000198369 sprouty related EVH1 domain containing 2 SPRED2 sprouty-related, EVH1 domain containing 2 FLJ21897, FLJ31917, Spred-2 Yes No Comparative Toxicogenomics Database:200734, Ensembl:ENSG00000198369, GeneCard:SPRED2, HGNC:HGNC:17722, NCBI Gene:200734, OMIM:609292, RefSeq DNA:NT_022184, RefSeq Protein:NP_001121682, RefSeq Protein:NP_861449, RefSeq RNA:NM_001128210, RefSeq RNA:NM_181784, UniProtKB:B3KPL5, UniProtKB:Q7Z698 No chr2 65534580 65659733 65307425 65432599 +PA134871045 399473 HGNC:31041 ENSG00000188766 sprouty related EVH1 domain containing 3 SPRED3 sprouty-related, EVH1 domain containing 3 Yes No Ensembl:ENSG00000188766, GeneCard:SPRED3, HGNC:HGNC:31041, ModBase:Q2MJR0, NCBI Gene:399473, OMIM:609293, RefSeq DNA:NT_011109, RefSeq Protein:NP_001034705, RefSeq Protein:NP_001035987, RefSeq RNA:NM_001039616, RefSeq RNA:NM_001042522, UniProtKB:Q2MJR0, UniProtKB:Q2MJR1 No chr19 38880840 38890524 38390061 38399884 +PA128394721 79794 HGNC:26128 SREBF pathway regulator in golgi 1 SPRING1 SREBP regulating gene, chromosome 12 open reading frame 49, partner of site-1 protease C12orf49, FLJ21415, LUR1, POST1, SPRING Yes No GeneCard:C12orf49, HGNC:HGNC:26128, HumanCyc Gene:HS12739, NCBI Gene:79794, RefSeq DNA:NT_009775, RefSeq Protein:NP_079014, RefSeq RNA:NM_024738, UCSC Genome Browser:NM_024738, UniProtKB:Q9H741 No chr12 117151289 117175868 116713320 116738070 +PA142670876 503542 HGNC:16871 ENSG00000203772 shadow of prion protein SPRN hypothetical protein BC004409, shadow of prion protein homolog (zebrafish) FLJ41197, Shadoo, Sprn, bA108K14.1 Yes No Comparative Toxicogenomics Database:503542, Ensembl:ENSG00000203772, GeneCard:SPRN, HGNC:HGNC:16871, NCBI Gene:503542, OMIM:610447, RefSeq DNA:NT_008818, RefSeq Protein:NP_001012526, RefSeq RNA:NM_001012508, UniProtKB:Q5BIV9 No chr10 135234170 135238623 133420666 133424617 +PA36088 6698 HGNC:11259 ENSG00000169474 small proline rich protein 1A SPRR1A cornifin-A, small proline-rich protein 1A Yes No Comparative Toxicogenomics Database:6698, Ensembl:ENSG00000169474, GenAtlas:SPRR1A, GeneCard:SPRR1A, HGNC:HGNC:11259, HumanCyc Gene:HS09953, ModBase:P35321, NCBI Gene:6698, OMIM:182265, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186757, RefSeq Protein:NP_005978, RefSeq RNA:NM_001199828, RefSeq RNA:NM_005987, UCSC Genome Browser:NM_005987, UniProtKB:P35321 No chr1 152956564 152958290 152984088 152985814 +PA36089 6699 HGNC:11260 ENSG00000169469 small proline rich protein 1B SPRR1B cornifin, cornifin-B, small proline-rich protein 1B GADD33, SPRR1 Yes No Comparative Toxicogenomics Database:6699, Ensembl:ENSG00000169469, GenAtlas:SPRR1B, GeneCard:SPRR1B, HGNC:HGNC:11260, HumanCyc Gene:HS09952, ModBase:P22528, NCBI Gene:6699, OMIM:182266, RefSeq DNA:NT_004487, RefSeq Protein:NP_003116, RefSeq RNA:NM_003125, UCSC Genome Browser:NM_003125, UniProtKB:P22528 No chr1 153003679 153005376 153031203 153032900 +PA36090 6700 HGNC:11261 ENSG00000241794 small proline rich protein 2A SPRR2A small proline-rich protein 2A Yes No Comparative Toxicogenomics Database:6700, Ensembl:ENSG00000241794, GenAtlas:SPRR2A, GeneCard:SPRR2A, HGNC:HGNC:11261, HumanCyc Gene:HS08804, ModBase:P35326, NCBI Gene:6700, OMIM:182267, RefSeq DNA:NT_004487, RefSeq Protein:NP_005979, RefSeq RNA:NM_005988, UCSC Genome Browser:NM_005988, UniProtKB:P35326 No chr1 153028596 153029988 153056120 153057512 +PA36091 6701 HGNC:11262 ENSG00000196805 small proline rich protein 2B SPRR2B small proline-rich protein 2B Yes No Comparative Toxicogenomics Database:6701, Ensembl:ENSG00000196805, GenAtlas:SPRR2B, GeneCard:SPRR2B, HGNC:HGNC:11262, ModBase:P35325, NCBI Gene:6701, OMIM:182268, RefSeq DNA:NT_004487, RefSeq Protein:NP_001017418, RefSeq RNA:NM_001017418, UCSC Genome Browser:NM_006945, UniProtKB:P35325 No chr1 153042717 153044084 153070226 153071608 +PA36092 6702 HGNC:11263 ENSG00000229035 small proline-rich protein 2C (pseudogene) SPRR2C Yes No Comparative Toxicogenomics Database:6702, Ensembl:ENSG00000229035, GenAtlas:SPRR2C, GeneCard:SPRR2C, HGNC:HGNC:11263, HumanCyc Gene:HS08806, NCBI Gene:6702, OMIM:182269, RefSeq DNA:NT_004487, RefSeq RNA:NR_003062, UCSC Genome Browser:NM_006518 No chr1 153112594 153113969 153140118 153141493 +PA36093 6703 HGNC:11264 ENSG00000163216 small proline rich protein 2D SPRR2D small proline-rich protein 2D Yes No Comparative Toxicogenomics Database:6703, Ensembl:ENSG00000163216, GenAtlas:SPRR2D, GeneCard:SPRR2D, HGNC:HGNC:11264, ModBase:P22532, NCBI Gene:6703, RefSeq DNA:NT_004487, RefSeq Protein:NP_008876, RefSeq RNA:NM_006945, UniProtKB:P22532 No chr1 153012201 153013594 153039725 153041144 +PA36094 6704 HGNC:11265 ENSG00000203785 small proline rich protein 2E SPRR2E small proline-rich protein 2E Yes No Comparative Toxicogenomics Database:6704, Ensembl:ENSG00000203785, GenAtlas:SPRR2E, GeneCard:SPRR2E, HGNC:HGNC:11265, ModBase:P22531, NCBI Gene:6704, RefSeq DNA:NT_004487, RefSeq Protein:NP_001019380, RefSeq RNA:NM_001024209, UniProtKB:P22531 No chr1 153065611 153067001 153093135 153094528 +PA36095 6705 HGNC:11266 ENSG00000244094 small proline rich protein 2F SPRR2F small proline-rich protein 2F Yes No Comparative Toxicogenomics Database:6705, Ensembl:ENSG00000244094, GenAtlas:SPRR2F, GeneCard:SPRR2F, HGNC:HGNC:11266, ModBase:Q96RM1, NCBI Gene:6705, RefSeq DNA:NT_004487, RefSeq Protein:NP_001014450, RefSeq RNA:NM_001014450, UniProtKB:Q96RM1 No chr1 153084612 153085989 153112121 153119460 +PA36096 6706 HGNC:11267 ENSG00000159516 small proline rich protein 2G SPRR2G small proline-rich protein 2G Yes No Comparative Toxicogenomics Database:6706, Ensembl:ENSG00000159516, GenAtlas:SPRR2G, GeneCard:SPRR2G, HGNC:HGNC:11267, ModBase:Q9BYE4, NCBI Gene:6706, RefSeq DNA:NT_004487, RefSeq Protein:NP_001014313, RefSeq RNA:NM_001014291, UniProtKB:Q9BYE4 No chr1 153122058 153123427 153149582 153195377 +PA36097 6707 HGNC:11268 ENSG00000163209 small proline rich protein 3 SPRR3 small proline-rich protein 3 Yes No Comparative Toxicogenomics Database:6707, Ensembl:ENSG00000163209, GenAtlas:SPRR3, GeneCard:SPRR3, HGNC:HGNC:11268, HumanCyc Gene:HS08803, ModBase:Q9UBC9, NCBI Gene:6707, OMIM:182271, RefSeq DNA:NT_004487, RefSeq Protein:NP_001091058, RefSeq Protein:NP_005407, RefSeq RNA:NM_001097589, RefSeq RNA:NM_005416, UCSC Genome Browser:NM_005416, UniProtKB:Q9UBC9 No chr1 152974223 152976332 153001747 153003856 +PA134866393 163778 HGNC:23173 ENSG00000184148 small proline rich protein 4 SPRR4 small proline-rich protein 4 Yes No Ensembl:ENSG00000184148, GeneCard:SPRR4, HGNC:HGNC:23173, ModBase:Q96PI1, NCBI Gene:163778, RefSeq DNA:NT_004487, RefSeq Protein:NP_775103, RefSeq RNA:NM_173080, UniProtKB:Q96PI1 No chr1 152943128 152945069 152968765 152972602 +PA166181659 110806278 HGNC:53428 ENSG00000283227 small proline rich protein 5 SPRR5 Yes No Ensembl:ENSG00000283227, HGNC:HGNC:53428, NCBI Gene:110806278 No 0 0 0 0 +PA142672442 83932 HGNC:25356 ENSG00000010072 SprT-like N-terminal domain SPRTN DNA damage-targeting VCP (p97) adaptor, SprT-like domain at the N terminus C1orf124, DKFZP547N043, DVC1, Spartan Yes No Ensembl:ENSG00000010072, GeneCard:C1orf124, HGNC:HGNC:25356, HumanCyc Gene:HS00273, ModBase:Q9H040, NCBI Gene:83932, RefSeq DNA:NT_167186, RefSeq Protein:NP_001010984, RefSeq Protein:NP_114407, RefSeq RNA:NM_001010984, RefSeq RNA:NM_032018, UniProtKB:Q9H040 No chr1 231473682 231506297 231337936 231355029 +PA36098 10252 HGNC:11269 ENSG00000164056 sprouty RTK signaling antagonist 1 SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) hSPRY1 Yes No Comparative Toxicogenomics Database:10252, Ensembl:ENSG00000164056, GenAtlas:SPRY1, GeneCard:SPRY1, HGNC:HGNC:11269, HumanCyc Gene:HS08995, ModBase:O43609, NCBI Gene:10252, OMIM:602465, RefSeq DNA:NT_016354, RefSeq Protein:NP_005832, RefSeq Protein:NP_955359, RefSeq RNA:NM_005841, RefSeq RNA:NM_199327, UniProtKB:O43609 No chr4 124317946 124324915 123396791 123403760 +PA36099 10253 HGNC:11270 ENSG00000136158 sprouty RTK signaling antagonist 2 SPRY2 sprouty homolog 2 (Drosophila) hSPRY2 Yes Yes Comparative Toxicogenomics Database:10253, Ensembl:ENSG00000136158, GenAtlas:SPRY2, GeneCard:SPRY2, HGNC:HGNC:11270, HumanCyc Gene:HS06124, ModBase:O43597, NCBI Gene:10253, OMIM:602466, RefSeq DNA:NT_024524, RefSeq Protein:NP_005833, RefSeq RNA:NM_005842, UCSC Genome Browser:NM_005842, UniProtKB:O43597 No chr13 80910111 80915086 80335976 80341115 +PA36100 10251 HGNC:11271 ENSG00000168939 sprouty RTK signaling antagonist 3 SPRY3 antagonist of FGF signaling, sprouty homolog 3 (Drosophila) HSPRY3 Yes No Ensembl:ENSG00000168939, GenAtlas:SPRY3, GeneCard:SPRY3, HGNC:HGNC:11271, HumanCyc Gene:HS09856, ModBase:O43610, NCBI Gene:10251, OMIM:300531, RefSeq DNA:NT_167198, RefSeq DNA:NT_167206, RefSeq Protein:NP_005831, RefSeq RNA:NM_005840, UCSC Genome Browser:NM_005840, UniProtKB:O43610 No chrX 154842226 155012121 155612565 155782459 +PA37975 81848 HGNC:15533 ENSG00000187678 sprouty RTK signaling antagonist 4 SPRY4 sprouty homolog 4 (Drosophila) Yes No Comparative Toxicogenomics Database:81848, Ensembl:ENSG00000187678, GenAtlas:SPRY4, GeneCard:SPRY4, HGNC:HGNC:15533, NCBI Gene:81848, OMIM:607984, RefSeq DNA:NT_029289, RefSeq Protein:NP_001120968, RefSeq Protein:NP_112226, RefSeq RNA:NM_001127496, RefSeq RNA:NM_030964, UCSC Genome Browser:NM_030964, UniProtKB:Q9C004 No chr5 141689992 141704620 142310427 142325055 +PA143485621 84926 HGNC:25920 ENSG00000167778 SPRY domain containing 3 SPRYD3 FLJ14800 Yes No Ensembl:ENSG00000167778, GeneCard:SPRYD3, HGNC:HGNC:25920, HumanCyc Gene:HS09634, ModBase:Q8NCJ5, NCBI Gene:84926, RefSeq DNA:NT_029419, RefSeq Protein:NP_116229, RefSeq RNA:NM_032840, UniProtKB:Q8NCJ5 No chr12 53458100 53473204 53064316 53079420 +PA143485622 283377 HGNC:27468 ENSG00000176422 SPRY domain containing 4 SPRYD4 DKFZp686N0877 Yes No Comparative Toxicogenomics Database:283377, Ensembl:ENSG00000176422, GeneCard:SPRYD4, HGNC:HGNC:27468, ModBase:Q8WW59, NCBI Gene:283377, RefSeq DNA:NT_029419, RefSeq Protein:NP_997227, RefSeq RNA:NM_207344, UniProtKB:Q8WW59 No chr12 56862301 56864769 56468517 56470985 +PA25511 57213 HGNC:14297 ENSG00000123178 SPRY domain containing 7 SPRYD7 C13orf1, CLLD6 Yes No Ensembl:ENSG00000123178, GenAtlas:C13orf1, GeneCard:C13orf1, HGNC:HGNC:14297, HumanCyc Gene:HS13081, ModBase:Q5W111, NCBI Gene:57213, OMIM:607866, RefSeq DNA:NT_024524, RefSeq Protein:NP_001120954, RefSeq Protein:NP_065189, RefSeq RNA:NM_001127482, RefSeq RNA:NM_020456, RefSeq RNA:NR_023351, UCSC Genome Browser:NM_020456, UniProtKB:Q5W111 No chr13 50486842 50510626 49912702 49936501 +PA142670871 80176 HGNC:30628 ENSG00000171621 splA/ryanodine receptor domain and SOCS box containing 1 SPSB1 SSB-1 Yes No Comparative Toxicogenomics Database:80176, Ensembl:ENSG00000171621, GeneCard:SPSB1, HGNC:HGNC:30628, HumanCyc Gene:HS10356, ModBase:Q96BD6, NCBI Gene:80176, OMIM:611657, RefSeq DNA:NT_021937, RefSeq Protein:NP_079382, RefSeq RNA:NM_025106, UniProtKB:Q96BD6 No chr1 9335202 9429591 9292882 9369532 +PA142670872 84727 HGNC:29522 ENSG00000111671 splA/ryanodine receptor domain and SOCS box containing 2 SPSB2 GRCC9, SSB-2 Yes Yes Comparative Toxicogenomics Database:84727, Ensembl:ENSG00000111671, GeneCard:SPSB2, HGNC:HGNC:29522, HumanCyc Gene:HS03443, ModBase:Q99619, NCBI Gene:84727, OMIM:611658, RefSeq DNA:NG_013308, RefSeq DNA:NT_009759, RefSeq Protein:NP_001139788, RefSeq Protein:NP_116030, RefSeq RNA:NM_001146316, RefSeq RNA:NM_032641, UniProtKB:Q99619 No chr12 6980099 6982521 6870935 6873357 +PA142670873 90864 HGNC:30629 ENSG00000162032 splA/ryanodine receptor domain and SOCS box containing 3 SPSB3 C16orf31, SSB-3 Yes No Comparative Toxicogenomics Database:90864, Ensembl:ENSG00000162032, GeneCard:SPSB3, HGNC:HGNC:30629, HumanCyc Gene:HS08636, ModBase:Q6PJ21, NCBI Gene:90864, OMIM:611659, RefSeq DNA:NT_010393, RefSeq Protein:NP_543137, RefSeq RNA:NM_080861, UniProtKB:Q6PJ21 No chr16 1826713 1832582 1776712 1782605 +PA142670874 92369 HGNC:30630 ENSG00000175093 splA/ryanodine receptor domain and SOCS box containing 4 SPSB4 SSB-4 Yes No Comparative Toxicogenomics Database:92369, Ensembl:ENSG00000175093, GeneCard:SPSB4, HGNC:HGNC:30630, HumanCyc Gene:HS10877, ModBase:Q96A44, NCBI Gene:92369, OMIM:611660, RefSeq DNA:NT_005612, RefSeq Protein:NP_543138, RefSeq RNA:NM_080862, UniProtKB:Q96A44 No chr3 140770743 140867453 141051317 141148611 +PA36101 6708 HGNC:11272 ENSG00000163554 spectrin alpha, erythrocytic 1 SPTA1 """elliptocytosis 2"", ""spectrin, alpha, erythrocytic 1"", ""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)""" EL2 Yes Yes Comparative Toxicogenomics Database:6708, Ensembl:ENSG00000163554, GenAtlas:SPTA1, GeneCard:SPTA1, HGNC:HGNC:11272, HumanCyc Gene:HS08879, ModBase:P02549, NCBI Gene:6708, OMIM:130600, OMIM:182860, OMIM:266140, OMIM:270970, RefSeq DNA:NG_011474, RefSeq DNA:NT_004487, RefSeq Protein:NP_003117, RefSeq RNA:NM_003126, UCSC Genome Browser:NM_003126, UniProtKB:P02549 No chr1 158580496 158656506 158610498 158686716 +PA36102 6709 HGNC:11273 ENSG00000197694 spectrin alpha, non-erythrocytic 1 SPTAN1 """alpha-fodrin"", ""spectrin, alpha, non-erythrocytic 1""" Yes No Comparative Toxicogenomics Database:6709, Ensembl:ENSG00000197694, GenAtlas:SPTAN1, GeneCard:SPTAN1, HGNC:HGNC:11273, ModBase:Q9P0V0, NCBI Gene:6709, OMIM:182810, RefSeq DNA:NT_008470, RefSeq Protein:NP_001123910, RefSeq Protein:NP_001182461, RefSeq Protein:NP_003118, RefSeq RNA:NM_001130438, RefSeq RNA:NM_001195532, RefSeq RNA:NM_003127, UCSC Genome Browser:NM_003127, UniProtKB:Q13813 No chr9 131314837 131395944 128552558 128633665 +PA36103 6710 HGNC:11274 ENSG00000070182 spectrin beta, erythrocytic SPTB """spectrin, beta, erythrocytic"", ""spherocytosis, clinical type I""" Yes No Comparative Toxicogenomics Database:6710, Ensembl:ENSG00000070182, GenAtlas:SPTB, GeneCard:SPTB, HGNC:HGNC:11274, HumanCyc Gene:HS00987, ModBase:P11277, NCBI Gene:6710, OMIM:182870, RefSeq DNA:NG_016202, RefSeq DNA:NT_026437, RefSeq Protein:NP_000338, RefSeq Protein:NP_001020029, RefSeq RNA:NM_000347, RefSeq RNA:NM_001024858, UCSC Genome Browser:NM_000347, UniProtKB:P11277, UniProtKB:Q59FP5, UniProtKB:Q86TX9 No chr14 65213001 65346604 64746283 64879892 +PA36104 6711 HGNC:11275 ENSG00000115306 spectrin beta, non-erythrocytic 1 SPTBN1 """Beta-II spectrin"", ""Fodrin beta chain"", ""spectrin, beta, non-erythrocytic 1""" Yes No Comparative Toxicogenomics Database:6711, Ensembl:ENSG00000115306, GenAtlas:SPTBN1, GeneCard:SPTBN1, HGNC:HGNC:11275, HumanCyc Gene:HS03867, ModBase:Q01082, NCBI Gene:6711, OMIM:182790, RefSeq DNA:NT_022184, RefSeq Protein:NP_003119, RefSeq Protein:NP_842565, RefSeq RNA:NM_003128, RefSeq RNA:NM_178313, UCSC Genome Browser:NM_003128, UniProtKB:B2ZZ89, UniProtKB:Q01082 No chr2 54683454 54898583 54456317 54671446 +PA36105 6712 HGNC:11276 ENSG00000173898 spectrin beta, non-erythrocytic 2 SPTBN2 spectrin, beta, non-erythrocytic 2 SCA5 Yes No Comparative Toxicogenomics Database:6712, Ensembl:ENSG00000173898, GenAtlas:SPTBN2, GeneCard:SPTBN2, HGNC:HGNC:11276, HumanCyc Gene:HS10746, ModBase:O15020, NCBI Gene:6712, OMIM:600224, OMIM:604985, RefSeq DNA:NG_016150, RefSeq DNA:NT_167190, RefSeq Protein:NP_008877, RefSeq RNA:NM_006946, UCSC Genome Browser:NM_006946, UniProtKB:O15020 No chr11 66449967 66496716 66682496 66729361 +PA37918 57731 HGNC:14896 ENSG00000160460 spectrin beta, non-erythrocytic 4 SPTBN4 spectrin, beta, non-erythrocytic 4 KIAA1642, SPTBN3 Yes No Ensembl:ENSG00000160460, GenAtlas:SPTBN4, GeneCard:SPTBN4, HGNC:HGNC:14896, HumanCyc Gene:HS08503, ModBase:Q9H254, NCBI Gene:57731, OMIM:606214, RefSeq DNA:NT_011109, RefSeq Protein:NP_066022, RefSeq Protein:NP_079489, RefSeq RNA:NM_020971, RefSeq RNA:NM_025213, UCSC Genome Browser:NM_025213, UniProtKB:Q9H253, UniProtKB:Q9H254 No chr19 40973050 41082365 40467153 40576459 +PA38020 51332 HGNC:15680 ENSG00000137877 spectrin beta, non-erythrocytic 5 SPTBN5 """beta V spectrin"", ""spectrin, beta, non-erythrocytic 5""" BSPECV, HUBSPECV, HUSPECV Yes No Ensembl:ENSG00000137877, GenAtlas:SPTBN5, GeneCard:SPTBN5, HGNC:HGNC:15680, HumanCyc Gene:HS06417, ModBase:Q9NRC6, NCBI Gene:51332, OMIM:605916, RefSeq DNA:NT_010194, RefSeq Protein:NP_057726, RefSeq RNA:NM_016642, UCSC Genome Browser:NM_016642, UniProtKB:Q9NRC6 No chr15 42140344 42186275 41848146 41894077 +PA36106 10558 HGNC:11277 ENSG00000090054 serine palmitoyltransferase long chain base subunit 1 SPTLC1 serine palmitoyltransferase, long chain base subunit 1 HSAN1, HSN1, LCB1, SPTI, hLCB1 Yes No Comparative Toxicogenomics Database:10558, Ensembl:ENSG00000090054, GenAtlas:SPTLC1, GeneCard:SPTLC1, HGNC:HGNC:11277, HumanCyc Gene:HS01673, ModBase:O15269, NCBI Gene:10558, OMIM:162400, OMIM:605712, RefSeq DNA:NG_007950, RefSeq DNA:NT_008470, RefSeq Protein:NP_006406, RefSeq Protein:NP_847894, RefSeq RNA:NM_006415, RefSeq RNA:NM_178324, UCSC Genome Browser:NM_006415, UniProtKB:O15269, UniProtKB:Q96IX6 No chr9 94793416 94877756 92031134 92115474 +PA36107 9517 HGNC:11278 ENSG00000100596 serine palmitoyltransferase long chain base subunit 2 SPTLC2 serine palmitoyltransferase, long chain base subunit 2 KIAA0526, LCB2, LCB2A, hLCB2a Yes No Comparative Toxicogenomics Database:9517, Ensembl:ENSG00000100596, GenAtlas:SPTLC2, GeneCard:SPTLC2, HGNC:HGNC:11278, HumanCyc Gene:HS02117, ModBase:O15270, NCBI Gene:9517, OMIM:605713, RefSeq DNA:NT_026437, RefSeq Protein:NP_004854, RefSeq RNA:NM_004863, UCSC Genome Browser:NM_004863, UniProtKB:O15270 No chr14 77972340 78083110 77505997 77616767 +PA162404677 55304 HGNC:16253 ENSG00000172296 serine palmitoyltransferase long chain base subunit 3 SPTLC3 serine palmitoyltransferase, long chain base subunit 3 C20orf38, FLJ11112, LCB2B, SPTLC2L, hLCB2b Yes No Ensembl:ENSG00000172296, GeneCard:SPTLC3, HGNC:HGNC:16253, HumanCyc Gene:HS16070, ModBase:Q9NUV7, NCBI Gene:55304, OMIM:611120, RefSeq DNA:NT_011387, RefSeq Protein:NP_060797, RefSeq RNA:NM_018327, UniProtKB:Q8N2H1, UniProtKB:Q9NUV7 No chr20 12989627 13147411 13008979 13169103 +PA128394765 171546 HGNC:20361 ENSG00000165389 serine palmitoyltransferase small subunit A SPTSSA """serine palmitoyltransferase, small subunit A"", ""small subunit of serine palmitoyltransferase A""" C14orf147, ssSPTa Yes No Ensembl:ENSG00000165389, GeneCard:C14orf147, HGNC:HGNC:20361, HumanCyc Gene:HS15320, NCBI Gene:171546, RefSeq DNA:NT_026437, RefSeq Protein:NP_612145, RefSeq RNA:NM_138288, UCSC Genome Browser:NM_138288, UniProtKB:Q969W0 No chr14 34902144 34931468 34432938 34462262 +PA143485333 165679 HGNC:24045 ENSG00000196542 serine palmitoyltransferase small subunit B SPTSSB """androgen down regulated in mouse prostate"", ""serine palmitoyltransferase, small subunit B"", ""small subunit of serine palmitoyltransferase B""" ADMP, C3orf57, ssSPTb Yes No Ensembl:ENSG00000196542, GeneCard:C3orf57, HGNC:HGNC:24045, NCBI Gene:165679, OMIM:610412, RefSeq DNA:NT_005612, RefSeq Protein:NP_001035189, RefSeq RNA:NM_001040100, UniProtKB:Q8NFR3 No chr3 161062580 161090662 161344784 161373123 +PA142670875 144108 HGNC:26818 ENSG00000179119 SPT2 chromatin protein domain containing 1 SPTY2D1 SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) DKFZp686I068, FLJ39441, Spt2 Yes No Comparative Toxicogenomics Database:144108, Ensembl:ENSG00000179119, GeneCard:SPTY2D1, HGNC:HGNC:26818, NCBI Gene:144108, RefSeq DNA:NT_009237, RefSeq Protein:NP_919261, RefSeq RNA:NM_194285, UniProtKB:Q68D10 No chr11 18627948 18656020 18606401 18634823 +PA143485369 80763 HGNC:28139 ENSG00000134548 spexin hormone SPX chromosome 12 open reading frame 39, neuropeptide Q C12orf39, MGC10946, NPQ, SPX1, spexin Yes No Ensembl:ENSG00000134548, GeneCard:C12orf39, HGNC:HGNC:28139, HumanCyc Gene:HS13534, NCBI Gene:80763, RefSeq DNA:NT_009714, RefSeq Protein:NP_085049, RefSeq RNA:NM_030572, UniProtKB:Q9BT56 No chr12 21679256 21684210 21526257 21532947 +PA142670869 84654 HGNC:30721 ENSG00000164299 spermatogenic leucine zipper 1 SPZ1 protein phosphatase 1, regulatory subunit 148 FLJ25709, NYD-TSP1, PPP1R148 Yes No Comparative Toxicogenomics Database:84654, Ensembl:ENSG00000164299, GeneCard:SPZ1, HGNC:HGNC:30721, HumanCyc Gene:HS15179, NCBI Gene:84654, RefSeq DNA:NT_006713, RefSeq Protein:NP_115956, RefSeq RNA:NM_032567, UniProtKB:Q9BXG8 No chr5 79615790 79617661 80319971 80321842 +PA36108 6713 HGNC:11279 ENSG00000104549 squalene epoxidase SQLE squalene monooxygenase Yes No Comparative Toxicogenomics Database:6713, Ensembl:ENSG00000104549, GenAtlas:SQLE, GeneCard:SQLE, HGNC:HGNC:11279, HumanCyc Gene:HS02595, ModBase:Q14534, NCBI Gene:6713, OMIM:602019, RefSeq DNA:NT_008046, RefSeq Protein:NP_003120, RefSeq RNA:NM_003129, UCSC Genome Browser:NM_003129, UniProtKB:Q14534, UniProtKB:Q5HYI4, UniProtKB:Q9UNR6 No chr8 126010720 126034525 124998478 125022283 +PA134894920 58472 HGNC:20390 ENSG00000137767 sulfide quinone oxidoreductase SQOR sulfide quinone reductase-like (yeast) CGI-44, SQR, SQRDL Yes No Comparative Toxicogenomics Database:58472, Ensembl:ENSG00000137767, GeneCard:SQRDL, HGNC:HGNC:20390, HumanCyc Gene:HS06393, ModBase:Q9Y6N5, NCBI Gene:58472, RefSeq DNA:NT_010194, RefSeq Protein:NP_067022, RefSeq RNA:NM_021199, UniProtKB:Q9Y6N5 No chr15 45923346 45983492 45631148 45691294 +PA36109 8878 HGNC:11280 ENSG00000161011 sequestosome 1 SQSTM1 autophagy receptor p62 A170, OSIL, PDB3, p60, p62, p62B Yes Yes Comparative Toxicogenomics Database:8878, Ensembl:ENSG00000161011, GenAtlas:SQSTM1, GeneCard:SQSTM1, HGNC:HGNC:11280, HumanCyc Gene:HS08563, ModBase:Q13501, NCBI Gene:8878, OMIM:601530, OMIM:602080, RefSeq DNA:NG_011342, RefSeq DNA:NT_023133, RefSeq Protein:NP_001135770, RefSeq Protein:NP_001135771, RefSeq Protein:NP_003891, RefSeq RNA:NM_001142298, RefSeq RNA:NM_001142299, RefSeq RNA:NM_003900, UCSC Genome Browser:NM_003900, UniProtKB:Q13501 No chr5 179233388 179265078 179806388 179838078 +PA36110 10011 HGNC:11281 ENSG00000213523 steroid receptor RNA activator 1 SRA1 SRA, STRAA1 Yes No Comparative Toxicogenomics Database:10011, Ensembl:ENSG00000213523, GenAtlas:SRA1, GeneCard:SRA1, HGNC:HGNC:11281, HumanCyc Gene:HS11701, ModBase:Q9HD15, NCBI Gene:10011, OMIM:603819, RefSeq DNA:NT_029289, RefSeq Protein:NP_001030312, RefSeq RNA:NM_001035235, UniProtKB:Q9HD15 No chr5 139929652 139937678 140550067 140558093 +PA142672514 149563 HGNC:28339 ENSG00000183888 steroid receptor associated and regulated protein SRARP ER-related factor, chromosome 1 open reading frame 64 C1orf64, ERRF, MGC24047 Yes No Ensembl:ENSG00000183888, GeneCard:C1orf64, HGNC:HGNC:28339, NCBI Gene:149563, RefSeq DNA:NT_004610, RefSeq Protein:NP_849162, RefSeq RNA:NM_178840, UniProtKB:Q8NEQ6 No chr1 16330731 16333184 16004236 16006695 +PA144596269 55133 HGNC:25521 ENSG00000068784 S1 RNA binding domain 1 SRBD1 FLJ10379 Yes No Ensembl:ENSG00000068784, GeneCard:SRBD1, HGNC:HGNC:25521, HumanCyc Gene:HS00944, ModBase:Q8N5C6, NCBI Gene:55133, RefSeq DNA:NT_022184, RefSeq Protein:NP_060549, RefSeq RNA:NM_018079, UniProtKB:Q8N5C6 No chr2 45615819 45838434 45388680 45611295 +PA36111 6714 HGNC:11283 ENSG00000197122 SRC proto-oncogene, non-receptor tyrosine kinase SRC v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) ASV, SRC1, c-src Yes No Comparative Toxicogenomics Database:6714, Ensembl:ENSG00000197122, GenAtlas:SRC, GeneCard:SRC, HGNC:HGNC:11283, HumanCyc Gene:HS02256, ModBase:P12931, NCBI Gene:6714, OMIM:190090, RefSeq DNA:NG_023033, RefSeq DNA:NT_011362, RefSeq Protein:NP_005408, RefSeq Protein:NP_938033, RefSeq RNA:NM_005417, RefSeq RNA:NM_198291, UCSC Genome Browser:NM_005417, UniProtKB:P12931 No chr20 35973088 36033835 37344685 37405432 +PA162404706 10847 HGNC:16974 ENSG00000080603 Snf2 related CREBBP activator protein SRCAP Snf2-related CREBBP activator protein, Swi2/Snf2-related ATPase homolog (S. cerevisiae), domino homolog 1 (Drosophila) DOMO1, EAF1, KIAA0309, SWR1 Yes No Ensembl:ENSG00000080603, GeneCard:SRCAP, HGNC:HGNC:16974, HumanCyc Gene:HS01362, NCBI Gene:10847, OMIM:611421, RefSeq DNA:NT_010393, RefSeq Protein:NP_006653, RefSeq RNA:NM_006662, UniProtKB:Q6ZRS2 No chr16 30709571 30751450 30699141 30740129 +PA165432823 80725 HGNC:29506 ENSG00000277363 SRC kinase signaling inhibitor 1 SRCIN1 SNAP-25-interacting protein, p130Cas-associated protein KIAA1684, SNIP, p140Cap Yes No Ensembl:ENSG00000277363, GeneCard:SRCIN1, HGNC:HGNC:29506, NCBI Gene:80725, OMIM:610786, RefSeq DNA:NT_010783, RefSeq Protein:NP_079524, RefSeq RNA:NM_025248, UniProtKB:Q9C0H9 No chr17 36686259 36762183 38530015 38607166 +PA36112 6715 HGNC:11284 ENSG00000145545 steroid 5 alpha-reductase 1 SRD5A1 """3-oxo-5-alpha-steroid 4-dehydrogenase 1"", ""steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)""" Yes No Comparative Toxicogenomics Database:6715, Ensembl:ENSG00000145545, GenAtlas:SRD5A1, GeneCard:SRD5A1, HGNC:HGNC:11284, HumanCyc Gene:HS07261, ModBase:P18405, NCBI Gene:6715, OMIM:184753, RefSeq DNA:NT_006576, RefSeq Protein:NP_001038, RefSeq RNA:NM_001047, UCSC Genome Browser:NM_001047, UniProtKB:P18405 No chr5 6633500 6669675 6633322 6669562 +PA36114 6719 HGNC:11286 ENSG00000232549 steroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene) SRD5A1P1 Yes No Ensembl:ENSG00000232549, GenAtlas:SRD5AP1, GeneCard:SRD5A1P1, HGNC:HGNC:11286, NCBI Gene:6719, RefSeq DNA:NG_001196, RefSeq DNA:NT_011786, RefSeq RNA:NR_028597 No chrX 138528978 138531132 139446819 139448973 +PA36113 6716 HGNC:11285 ENSG00000277893 steroid 5 alpha-reductase 2 SRD5A2 """3-oxo-5-alpha-steroid 4-dehydrogenase 2"", ""steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)""" Yes Yes Comparative Toxicogenomics Database:6716, Ensembl:ENSG00000277893, GenAtlas:SRD5A2, GeneCard:SRD5A2, HGNC:HGNC:11285, HumanCyc Gene:HS00619, NCBI Gene:6716, OMIM:264600, OMIM:607306, RefSeq DNA:NG_008365, RefSeq DNA:NT_022184, RefSeq Protein:NP_000339, RefSeq RNA:NM_000348, UCSC Genome Browser:NM_000348, UniProtKB:P31213 No chr2 31749656 31806040 31522486 31665651 +PA162404779 79644 HGNC:25812 ENSG00000128039 steroid 5 alpha-reductase 3 SRD5A3 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+)), polyprenol reductase FLJ13352, SRD5A2L, SRD5A2L1 Yes No Ensembl:ENSG00000128039, GeneCard:SRD5A3, HGNC:HGNC:25812, HumanCyc Gene:HS13249, ModBase:Q9H8P0, NCBI Gene:79644, OMIM:611715, RefSeq DNA:NT_022853, RefSeq Protein:NP_078868, RefSeq RNA:NM_024592, UniProtKB:Q9H8P0 No chr4 56212388 56239267 55346114 55373100 +PA335 6720 HGNC:11289 ENSG00000072310 sterol regulatory element binding transcription factor 1 SREBF1 Sterol regulatory element-binding protein 1 SREBP-1c, SREBP1, SREBP1a, bHLHd1 Yes Yes Comparative Toxicogenomics Database:6720, Ensembl:ENSG00000072310, GenAtlas:SREBF1, GeneCard:SREBF1, HGNC:HGNC:11289, HumanCyc Gene:HS01063, ModBase:P36956, NCBI Gene:6720, OMIM:184756, RefSeq DNA:NT_010718, RefSeq Protein:NP_001005291, RefSeq Protein:NP_004167, RefSeq RNA:NM_001005291, RefSeq RNA:NM_004176, UCSC Genome Browser:NM_004176, UniProtKB:P36956 No chr17 17714663 17740331 17811349 17837017 +PA336 6721 HGNC:11290 ENSG00000198911 sterol regulatory element binding transcription factor 2 SREBF2 Sterol regulatory element-binding protein 2 SREBP2, bHLHd2 Yes Yes Comparative Toxicogenomics Database:6721, Ensembl:ENSG00000198911, GenAtlas:SREBF2, GeneCard:SREBF2, HGNC:HGNC:11290, ModBase:Q12772, NCBI Gene:6721, OMIM:600481, RefSeq DNA:NT_011520, RefSeq Protein:NP_004590, RefSeq RNA:NM_004599, UCSC Genome Browser:NM_004599, UniProtKB:Q12772, UniProtKB:Q8NCY3 No chr22 42229083 42303312 41833079 41907308 +PA38255 140890 HGNC:17882 ENSG00000153914 splicing regulatory glutamic acid and lysine rich protein 1 SREK1 serine-arginine-rich splicing regulatory protein 508, splicing regulatory glutamine/lysine-rich protein 1 DKFZp564B176, SFRS12, SRrp508, SRrp86 Yes No Comparative Toxicogenomics Database:140890, Ensembl:ENSG00000153914, GenAtlas:SFRS12, GeneCard:SFRS12, HGNC:HGNC:17882, HumanCyc Gene:HS07929, ModBase:Q8WXA9, NCBI Gene:140890, OMIM:609268, RefSeq DNA:NT_006713, RefSeq Protein:NP_001070667, RefSeq Protein:NP_631907, RefSeq RNA:NM_001077199, RefSeq RNA:NM_139168, UCSC Genome Browser:NM_139168, UniProtKB:B3KRJ9, UniProtKB:Q8WXA9 No chr5 65440046 65479444 66144218 66183616 +PA162402954 285672 HGNC:26716 ENSG00000153006 SREK1 interacting protein 1 SREK1IP1 SREK1-interacting protein 1, p18 splicing regulatory protein FLJ36754, P18SRP, SFRS12IP1 Yes No Ensembl:ENSG00000153006, GeneCard:SFRS12IP1, HGNC:HGNC:26716, HumanCyc Gene:HS07871, ModBase:Q8N9Q2, NCBI Gene:285672, RefSeq DNA:NT_006713, RefSeq Protein:NP_776190, RefSeq RNA:NM_173829, UniProtKB:Q8N9Q2 No chr5 64013975 64064496 64718148 64768849 +PA36116 6722 HGNC:11291 ENSG00000112658 serum response factor SRF c-fos serum response element-binding transcription factor, minichromosome maintenance 1 homolog (S. cerevisiae), serum response factor (c-fos serum response element-binding transcription factor) MCM1 Yes No Comparative Toxicogenomics Database:6722, Ensembl:ENSG00000112658, GenAtlas:SRF, GeneCard:SRF, HGNC:HGNC:11291, HumanCyc Gene:HS03600, ModBase:P11831, NCBI Gene:6722, OMIM:600589, RefSeq DNA:NT_007592, RefSeq Protein:NP_003122, RefSeq RNA:NM_003131, UCSC Genome Browser:NM_003131, UniProtKB:P11831 No chr6 43138920 43149244 43171295 43181506 +PA142670870 153443 HGNC:26333 ENSG00000151304 serum response factor binding protein 1 SRFBP1 BUD22 homolog (S. cerevisiae) BUD22, FLJ25286, Rlb1, STRAP, p49 Yes No Comparative Toxicogenomics Database:153443, Ensembl:ENSG00000151304, GeneCard:SRFBP1, HGNC:HGNC:26333, HumanCyc Gene:HS14360, ModBase:Q8NEF9, NCBI Gene:153443, OMIM:610479, RefSeq DNA:NT_034772, RefSeq Protein:NP_689759, RefSeq RNA:NM_152546, UniProtKB:Q8NEF9 No chr5 121297656 121364295 121961917 122075624 +PA134887956 57522 HGNC:17382 ENSG00000196935 SLIT-ROBO Rho GTPase activating protein 1 SRGAP1 ARHGAP13, KIAA1304 Yes No Comparative Toxicogenomics Database:57522, Ensembl:ENSG00000196935, GeneCard:SRGAP1, HGNC:HGNC:17382, ModBase:Q7Z6B7, NCBI Gene:57522, OMIM:606523, RefSeq DNA:NT_029419, RefSeq Protein:NP_065813, RefSeq RNA:NM_020762, UniProtKB:Q7Z6B7 No chr12 64238276 64541643 63844372 64147863 +PA164742513 23380 HGNC:19751 ENSG00000266028 SLIT-ROBO Rho GTPase activating protein 2 SRGAP2 ARHGAP34, FNBP2, KIAA0456, SRGAP2A Yes No Ensembl:ENSG00000266028, GeneCard:SRGAP2, HGNC:HGNC:19751, HumanCyc Gene:HS15069, ModBase:O75044, NCBI Gene:23380, OMIM:606524, RefSeq DNA:NT_167186, RefSeq Protein:NP_001036223, RefSeq Protein:NP_001164108, RefSeq Protein:NP_056141, RefSeq RNA:NM_001042758, RefSeq RNA:NM_001170637, RefSeq RNA:NM_015326, UniProtKB:A2RUF3, UniProtKB:B3KM24, UniProtKB:B7ZM87, UniProtKB:O75044 No chr1 194318 455297 206203464 206464443 +PA166123739 647135 HGNC:35237 ENSG00000196369 SLIT-ROBO Rho GTPase activating protein 2B SRGAP2B SRGAP2P2 Yes No Ensembl:ENSG00000196369, HGNC:HGNC:35237, NCBI Gene:647135 No chr1 +PA166049001 653464 HGNC:30584 ENSG00000171943 SLIT-ROBO Rho GTPase activating protein 2C SRGAP2C SRGAP2P1 Yes No Ensembl:ENSG00000171943, HGNC:HGNC:30584, NCBI Gene:653464 No chr1 1256541 1460864 121184967 121392819 +PA166049102 100996712 HGNC:43932 ENSG00000270872 SLIT-ROBO Rho GTPase activating protein 2D SRGAP2D Yes No Ensembl:ENSG00000270872, HGNC:HGNC:43932, NCBI Gene:100996712 No chr1 788052 885256 143972639 144069704 +PA134935463 9901 HGNC:19744 ENSG00000196220 SLIT-ROBO Rho GTPase activating protein 3 SRGAP3 ARHGAP14, KIAA0411, MEGAP, SRGAP2, WRP Yes No Ensembl:ENSG00000196220, GeneCard:SRGAP3, HGNC:HGNC:19744, ModBase:O43295, NCBI Gene:9901, OMIM:606525, RefSeq DNA:NT_022517, RefSeq Protein:NP_001028289, RefSeq Protein:NP_055665, RefSeq RNA:NM_001033117, RefSeq RNA:NM_014850, UniProtKB:O43295 No chr3 9022275 9291369 8980591 9362979 +PA33733 5552 HGNC:9361 ENSG00000122862 serglycin SRGN serglycin proteoglycan PPG, PRG, PRG1 Yes No Comparative Toxicogenomics Database:5552, Ensembl:ENSG00000122862, GenAtlas:PRG1, GeneCard:PRG1, GeneCard:SRGN, HGNC:HGNC:9361, HumanCyc Gene:HS04609, NCBI Gene:5552, OMIM:177040, RefSeq DNA:NT_008583, RefSeq DNA:NT_030059, RefSeq Protein:NP_002718, RefSeq RNA:NM_002727, RefSeq RNA:NR_036430, UCSC Genome Browser:NM_002727, UniProtKB:P10124 No chr10 70847828 70864567 69057544 69104811 +PA36117 6717 HGNC:11292 ENSG00000075142 sorcin SRI Yes No Comparative Toxicogenomics Database:6717, Ensembl:ENSG00000075142, GenAtlas:SRI, GeneCard:SRI, HGNC:HGNC:11292, HumanCyc Gene:HS01160, ModBase:P30626, NCBI Gene:6717, OMIM:182520, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_003121, RefSeq Protein:NP_944490, RefSeq RNA:NM_003130, RefSeq RNA:NM_198901, UCSC Genome Browser:NM_003130, UniProtKB:A8MTH6, UniProtKB:P30626 No chr7 87834430 87856308 88205115 88226993 +PA36118 6644 HGNC:11293 ENSG00000248660 sorcin pseudogene 1 SRIP1 Yes No Ensembl:ENSG00000248660, GenAtlas:SRIL, GeneCard:SRIP1, HGNC:HGNC:11293, NCBI Gene:6644, RefSeq DNA:NG_003017, RefSeq DNA:NT_022853 No chr4 58969313 58969795 58103147 58103629 +PA165757405 100499485 HGNC:38734 ENSG00000224065 sorcin pseudogene 2 SRIP2 Yes No Ensembl:ENSG00000224065, HGNC:HGNC:38734, NCBI Gene:100499485 No chrX 88622465 88622696 89367466 89367697 +PA165791577 100861435 HGNC:38735 ENSG00000224953 sorcin pseudogene 3 SRIP3 Yes No Ensembl:ENSG00000224953, HGNC:HGNC:38735, NCBI Gene:100861435 No chrY 6586991 6587221 6718950 6719180 +PA36119 6345 HGNC:11295 ENSG00000185739 sarcalumenin SRL SAR Yes No Comparative Toxicogenomics Database:6345, Ensembl:ENSG00000185739, GenAtlas:SRL, GeneCard:SRL, HGNC:HGNC:11295, NCBI Gene:6345, OMIM:604992, RefSeq DNA:NT_010393, RefSeq Protein:NP_001092284, RefSeq RNA:NM_001098814, UniProtKB:B3KPP4, UniProtKB:Q86TD4 No chr16 4239375 4292081 4189374 4242253 +PA36120 6723 HGNC:11296 ENSG00000116649 spermidine synthase SRM SPS1, SRML1 Yes No Comparative Toxicogenomics Database:6723, Ensembl:ENSG00000116649, GenAtlas:SRM, GeneCard:SRM, HGNC:HGNC:11296, HumanCyc Gene:HS04027, ModBase:P19623, NCBI Gene:6723, OMIM:182891, RefSeq DNA:NT_021937, RefSeq Protein:NP_003123, RefSeq RNA:NM_003132, UCSC Genome Browser:NM_003132, UniProtKB:P19623 No chr1 11114649 11120091 11054592 11060053 +PA38162 170552 HGNC:16552 ENSG00000215448 spermidine synthase pseudogene 1 SRMP1 dJ1057D4.1 Yes No Ensembl:ENSG00000215448, GenAtlas:SRMP1, GeneCard:SRMP1, HGNC:HGNC:16552, NCBI Gene:170552, RefSeq DNA:NG_001057, RefSeq DNA:NT_011362 No chr20 46488460 46489693 47859716 47860949 +PA134884536 326269 HGNC:20034 ENSG00000258485 spermidine synthase pseudogene 2 SRMP2 Yes No Ensembl:ENSG00000258485, GeneCard:SRMP2, HGNC:HGNC:20034, NCBI Gene:326269, RefSeq DNA:NG_002532, RefSeq DNA:NT_026437 No chr14 61385700 61386881 60918982 60920163 +PA36122 6725 HGNC:11298 ENSG00000125508 src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites SRMS C20orf148, PTK70, SRM, dJ697K14.1 Yes No Ensembl:ENSG00000125508, GenAtlas:SRMS, GeneCard:SRMS, HGNC:HGNC:11298, HumanCyc Gene:HS04898, ModBase:Q9H3Y6, NCBI Gene:6725, RefSeq DNA:NT_011333, RefSeq Protein:NP_543013, RefSeq RNA:NM_080823, UCSC Genome Browser:NM_080823, UniProtKB:Q9H3Y6 No chr20 62172163 62178857 63539924 63547504 +PA36123 6727 HGNC:11299 ENSG00000140319 signal recognition particle 14 SRP14 homologous Alu RNA binding protein, signal recognition particle 14kDa (homologous Alu RNA binding protein) ALURBP, MGC14326 Yes No Comparative Toxicogenomics Database:6727, Ensembl:ENSG00000140319, GenAtlas:SRP14, GeneCard:SRP14, HGNC:HGNC:11299, HumanCyc Gene:HS06701, ModBase:P37108, NCBI Gene:6727, OMIM:600708, RefSeq DNA:NT_010194, RefSeq Protein:NP_003125, RefSeq RNA:NM_003134, UCSC Genome Browser:NM_003134, UniProtKB:P37108 No chr15 40327891 40331389 40035690 40039202 +PA36124 6728 HGNC:11300 ENSG00000153037 signal recognition particle 19 SRP19 signal recognition particle 19kDa Yes Yes Comparative Toxicogenomics Database:6728, Ensembl:ENSG00000153037, GenAtlas:SRP19, GeneCard:SRP19, HGNC:HGNC:11300, HumanCyc Gene:HS07874, ModBase:P09132, NCBI Gene:6728, OMIM:182175, RefSeq DNA:NT_034772, RefSeq Protein:NP_001191122, RefSeq Protein:NP_001191123, RefSeq Protein:NP_001191125, RefSeq Protein:NP_001191128, RefSeq Protein:NP_003126, RefSeq RNA:NM_001204193, RefSeq RNA:NM_001204194, RefSeq RNA:NM_001204196, RefSeq RNA:NM_001204199, RefSeq RNA:NM_003135, UCSC Genome Browser:NM_003135, UniProtKB:P09132 No chr5 112196885 112228776 112861188 112893079 +PA36125 6729 HGNC:11301 ENSG00000100883 signal recognition particle 54 SRP54 signal recognition particle 54kDa Yes No Comparative Toxicogenomics Database:6729, Ensembl:ENSG00000100883, GenAtlas:SRP54, GeneCard:SRP54, HGNC:HGNC:11301, HumanCyc Gene:HS02157, ModBase:P61011, NCBI Gene:6729, OMIM:604857, RefSeq DNA:NT_026437, RefSeq Protein:NP_001139754, RefSeq Protein:NP_003127, RefSeq RNA:NM_001146282, RefSeq RNA:NM_003136, UCSC Genome Browser:NM_003136, UniProtKB:B4DUW6, UniProtKB:P61011 No chr14 35451901 35498773 34982645 35029567 +PA36126 6730 HGNC:11302 ENSG00000167881 signal recognition particle 68 SRP68 signal recognition particle 68kDa Yes No Comparative Toxicogenomics Database:6730, Ensembl:ENSG00000167881, GenAtlas:SRP68, GeneCard:SRP68, HGNC:HGNC:11302, HumanCyc Gene:HS09656, ModBase:Q9UHB9, NCBI Gene:6730, OMIM:604858, RefSeq DNA:NT_010783, RefSeq Protein:NP_055045, RefSeq RNA:NM_014230, UCSC Genome Browser:NM_014230, UniProtKB:B3KMI9, UniProtKB:Q9UHB9 No chr17 74034856 74068607 76038775 76072526 +PA36127 6731 HGNC:11303 ENSG00000174780 signal recognition particle 72 SRP72 signal recognition particle 72kDa Yes No Ensembl:ENSG00000174780, GenAtlas:SRP72, GeneCard:SRP72, HGNC:HGNC:11303, HumanCyc Gene:HS10830, ModBase:O76094, NCBI Gene:6731, OMIM:602122, RefSeq DNA:NT_022853, RefSeq Protein:NP_008878, RefSeq RNA:NM_006947, UCSC Genome Browser:NM_006947, UniProtKB:O76094, UniProtKB:Q7Z3C0 No chr4 57333370 57369847 56466877 56503681 +PA134931096 100420752 HGNC:31095 ENSG00000265182 signal recognition particle 72kDa pseudogene 1 SRP72P1 Yes No Ensembl:ENSG00000265182, GeneCard:SRP72P1, HGNC:HGNC:31095, NCBI Gene:100420752 No chr18 47021516 47023267 49495146 49496897 +PA134974971 153932 HGNC:31096 ENSG00000188451 signal recognition particle 72kDa pseudogene 2 SRP72P2 dJ274L14.2 Yes No Ensembl:ENSG00000188451, GeneCard:SRP72P2, HGNC:HGNC:31096, NCBI Gene:153932 No chr6 158658168 158663816 158237136 158242784 +PA36128 6726 HGNC:11304 ENSG00000143742 signal recognition particle 9 SRP9 signal recognition particle 9kDa Yes No Comparative Toxicogenomics Database:6726, Ensembl:ENSG00000143742, GenAtlas:SRP9, GeneCard:SRP9, HGNC:HGNC:11304, HumanCyc Gene:HS07097, HumanCyc Gene:HS11508, ModBase:P49458, NCBI Gene:6726, OMIM:600707, RefSeq DNA:NT_167186, RefSeq Protein:NP_001123912, RefSeq Protein:NP_003124, RefSeq RNA:NM_001130440, RefSeq RNA:NM_003133, UCSC Genome Browser:NM_003133, UniProtKB:A8K0N0, UniProtKB:P49458, UniProtKB:Q6NVX0, UniProtKB:Q8WTW0 No chr1 225965515 225978168 225777813 225790466 +PA134920046 653226 HGNC:23402 ENSG00000180581 signal recognition particle 9 pseudogene 1 SRP9P1 Yes No Ensembl:ENSG00000180581, GeneCard:SRP9P1, HGNC:HGNC:23402, NCBI Gene:653226, RefSeq DNA:NG_012272, RefSeq Protein:XP_001720178, RefSeq RNA:XM_001720126 No chr10 93565800 93567290 91806043 91807533 +PA36129 6732 HGNC:11305 ENSG00000096063 SRSF protein kinase 1 SRPK1 SR protein kinase 1, serine/arginine-rich splicing factor kinase 1 SFRSK1 Yes No Comparative Toxicogenomics Database:6732, Ensembl:ENSG00000096063, GenAtlas:SRPK1, GeneCard:SRPK1, HGNC:HGNC:11305, HumanCyc Gene:HS01843, ModBase:Q96SB4, NCBI Gene:6732, OMIM:601939, RefSeq DNA:NT_007592, RefSeq Protein:NP_003128, RefSeq RNA:NM_003137, RefSeq RNA:NR_034069, UCSC Genome Browser:NM_003137, UniProtKB:Q96SB4 No chr6 35800811 35888957 35833034 35921180 +PA36130 6733 HGNC:11306 ENSG00000135250 SRSF protein kinase 2 SRPK2 SR protein kinase 2, serine/arginine-rich splicing factor kinase 2 SFRSK2 Yes No Comparative Toxicogenomics Database:6733, Ensembl:ENSG00000135250, GenAtlas:SRPK2, GeneCard:SRPK2, HGNC:HGNC:11306, HumanCyc Gene:HS05974, ModBase:P78362, NCBI Gene:6733, OMIM:602980, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_872633, RefSeq Protein:NP_872634, RefSeq RNA:NM_182691, RefSeq RNA:NM_182692, UCSC Genome Browser:NM_003138, UCSC Genome Browser:NM_182691, UniProtKB:P78362 No chr7 104754048 105039614 105110708 105399366 +PA142670868 100419416 HGNC:30303 ENSG00000253431 SRSF protein kinase 2 pseudogene SRPK2P SRPK2ps Yes No Ensembl:ENSG00000253431, GeneCard:SRPK2P, HGNC:HGNC:30303, NCBI Gene:100419416 No chr8 63775641 63776564 62863082 62864005 +PA162404805 26576 HGNC:11402 ENSG00000184343 SRSF protein kinase 3 SRPK3 MSSK1, STK23 Yes No Ensembl:ENSG00000184343, GeneCard:SRPK3, HGNC:HGNC:11402, HumanCyc Gene:HS11948, ModBase:Q9UPE1, NCBI Gene:26576, RefSeq DNA:NG_016329, RefSeq DNA:NT_167198, RefSeq Protein:NP_001164231, RefSeq Protein:NP_001164232, RefSeq Protein:NP_055185, RefSeq RNA:NM_001170760, RefSeq RNA:NM_001170761, RefSeq RNA:NM_014370, UniProtKB:Q4F970, UniProtKB:Q562F5, UniProtKB:Q9UPE1 No chrX 153046456 153051187 153781001 153785732 +PA36131 6734 HGNC:11307 ENSG00000182934 SRP receptor subunit alpha SRPRA signal recognition particle receptor (docking protein) SR-alpha, SRP-alpha, SRPR, Sralpha Yes No Comparative Toxicogenomics Database:6734, Ensembl:ENSG00000182934, GenAtlas:SRPR, GeneCard:SRPR, HGNC:HGNC:11307, ModBase:P08240, NCBI Gene:6734, OMIM:182180, RefSeq DNA:NT_033899, RefSeq Protein:NP_001171313, RefSeq Protein:NP_003130, RefSeq RNA:NM_001177842, RefSeq RNA:NM_003139, UCSC Genome Browser:NM_003139, UniProtKB:B4E0H3, UniProtKB:P08240 No chr11 126132814 126138877 126255151 126268982 +PA128394701 58477 HGNC:24085 ENSG00000144867 SRP receptor subunit beta SRPRB signal recognition particle receptor, B subunit APMCF1, SR-beta Yes Yes Comparative Toxicogenomics Database:58477, Ensembl:ENSG00000144867, GeneCard:SRPRB, HGNC:HGNC:24085, HumanCyc Gene:HS07214, ModBase:Q9Y5M8, NCBI Gene:58477, RefSeq DNA:NT_005612, RefSeq Protein:NP_067026, RefSeq RNA:NM_021203, UCSC Genome Browser:NM_021203, UniProtKB:Q549N5, UniProtKB:Q9Y5M8 No chr3 133502877 133540336 133784033 133821492 +PA36133 8406 HGNC:11309 ENSG00000101955 sushi repeat containing protein X-linked SRPX sushi-repeat containing protein, X-linked ETX1, SRPX1 Yes No Comparative Toxicogenomics Database:8406, Ensembl:ENSG00000101955, GenAtlas:SRPX, GeneCard:SRPX, HGNC:HGNC:11309, HumanCyc Gene:HS02323, ModBase:P78539, NCBI Gene:8406, OMIM:300187, RefSeq DNA:NG_016373, RefSeq DNA:NT_079573, RefSeq Protein:NP_001164221, RefSeq Protein:NP_001164222, RefSeq Protein:NP_001164223, RefSeq Protein:NP_006298, RefSeq RNA:NM_001170750, RefSeq RNA:NM_001170751, RefSeq RNA:NM_001170752, RefSeq RNA:NM_006307, UCSC Genome Browser:NM_006307, UniProtKB:B3KWP8, UniProtKB:B4DDB8, UniProtKB:B4DQH5, UniProtKB:P78539 No chrX 38008588 38080177 38149335 38220924 +PA134983994 27286 HGNC:30668 ENSG00000102359 sushi repeat containing protein X-linked 2 SRPX2 sushi-repeat containing protein, X-linked 2 SRPUL Yes No Comparative Toxicogenomics Database:27286, Ensembl:ENSG00000102359, GeneCard:SRPX2, HGNC:HGNC:30668, HumanCyc Gene:HS02384, ModBase:O60687, NCBI Gene:27286, OMIM:300388, OMIM:300642, OMIM:300643, RefSeq DNA:NG_021337, RefSeq DNA:NT_011651, RefSeq Protein:NP_055282, RefSeq RNA:NM_014467, UniProtKB:O60687 No chrX 99899163 99926296 100644166 100671299 +PA37877 63826 HGNC:14398 ENSG00000167720 serine racemase SRR ILV1, ISO1 Yes Yes Comparative Toxicogenomics Database:63826, Ensembl:ENSG00000167720, GenAtlas:SRR, GeneCard:SRR, HGNC:HGNC:14398, HumanCyc Gene:HS09614, ModBase:Q9GZT4, NCBI Gene:63826, OMIM:606477, RefSeq DNA:NT_010718, RefSeq Protein:NP_068766, RefSeq RNA:NM_021947, UCSC Genome Browser:NM_021947, UniProtKB:Q9GZT4 No chr17 2207244 2228553 2303371 2325267 +PA162404806 402055 HGNC:33910 ENSG00000100104 SRR1 domain containing SRRD hepatocellular carcinoma complicating hemochromatosis HC/HCC, SRR1L Yes No Ensembl:ENSG00000100104, GeneCard:SRRD, HGNC:HGNC:33910, ModBase:Q9UH36, NCBI Gene:402055, OMIM:602254, RefSeq DNA:NT_011520, RefSeq Protein:NP_001013716, RefSeq RNA:NM_001013694, UniProtKB:Q9UH36 No chr22 26879850 26887904 26483867 26494620 +PA38177 10250 HGNC:16638 ENSG00000133226 serine and arginine repetitive matrix 1 SRRM1 Ser/Arg-related nuclear matrix protein, plenty of prolines 101-like, serine/arginine repetitive matrix 1 MGC39488, POP101, SRM160 Yes No Ensembl:ENSG00000133226, GenAtlas:SRRM1, GeneCard:SRRM1, HGNC:HGNC:16638, HumanCyc Gene:HS05750, ModBase:Q8IYB3, NCBI Gene:10250, OMIM:605975, RefSeq DNA:NT_004610, RefSeq Protein:NP_005830, RefSeq RNA:NM_005839, UCSC Genome Browser:NM_005839, UniProtKB:Q8IYB3 No chr1 24969594 24999772 24643012 24673281 +PA134957134 401475 HGNC:31861 serine/arginine repetitive matrix 1 pseudogene 1 SRRM1P1 Yes No HGNC:HGNC:31861, NCBI Gene:401475, RefSeq DNA:NG_011412, RefSeq DNA:NT_008046, RefSeq Protein:XP_937905, RefSeq RNA:XM_932812 No chr8 128099755 128100775 127086262 127087510 +PA38178 23524 HGNC:16639 ENSG00000167978 serine/arginine repetitive matrix 2 SRRM2 Cwc21, KIAA0324, SRL300, SRm300 Yes No Comparative Toxicogenomics Database:23524, Ensembl:ENSG00000167978, GenAtlas:SRRM2, GeneCard:SRRM2, HGNC:HGNC:16639, HumanCyc Gene:HS15618, ModBase:Q96GY7, NCBI Gene:23524, OMIM:606032, RefSeq DNA:NT_010393, RefSeq Protein:NP_057417, RefSeq RNA:NM_016333, UCSC Genome Browser:NM_016333, UniProtKB:Q9UQ35 No chr16 2802330 2821413 2752329 2771412 +PA165618294 222183 HGNC:26729 ENSG00000177679 serine/arginine repetitive matrix 3 SRRM3 FLJ37078 Yes No Ensembl:ENSG00000177679, GeneCard:SRRM3, HGNC:HGNC:26729, HumanCyc Gene:HS16899, NCBI Gene:222183, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001103669, RefSeq RNA:NM_001110199 No chr7 75831211 75916609 76201893 76287292 +PA165513415 84530 HGNC:29389 ENSG00000139767 serine/arginine repetitive matrix 4 SRRM4 neural-specific SR-related protein of 100 kDa KIAA1853, nSR100 Yes No Ensembl:ENSG00000139767, GeneCard:SRRM4, HGNC:HGNC:29389, NCBI Gene:84530, OMIM:613103, RefSeq DNA:NT_009775, RefSeq Protein:NP_919262, RefSeq RNA:NM_194286, UniProtKB:A7MD48 No chr12 119419300 119600856 118981495 119163051 +PA165394321 100170229 HGNC:37248 ENSG00000226763 serine/arginine repetitive matrix 5 SRRM5 Yes No Ensembl:ENSG00000226763, GeneCard:SRRM5, HGNC:HGNC:37248, NCBI Gene:100170229, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139113, RefSeq RNA:NM_001145641 No chr19 44116253 44118650 43612101 43614498 +PA164726295 51593 HGNC:24101 ENSG00000087087 serrate, RNA effector molecule SRRT arsenite resistance protein, serrate RNA effector molecule homolog (Arabidopsis) ARS2, Asr2, serrate Yes No Ensembl:ENSG00000087087, GeneCard:SRRT, HGNC:HGNC:24101, HumanCyc Gene:HS01554, NCBI Gene:51593, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001122324, RefSeq Protein:NP_001122325, RefSeq Protein:NP_001122326, RefSeq Protein:NP_056992, RefSeq RNA:NM_001128852, RefSeq RNA:NM_001128853, RefSeq RNA:NM_001128854, RefSeq RNA:NM_015908, UniProtKB:Q9BXP5 No chr7 100472701 100486285 100874971 100888664 +PA35696 6426 HGNC:10780 ENSG00000136450 serine and arginine rich splicing factor 1 SRSF1 """SR splicing factor 1"", ""alternate splicing factor"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""serine/arginine-rich splicing factor 1"", ""splicing factor 2""" ASF, MGC5228, SF2, SF2p33, SFRS1, SRp30a Yes No Comparative Toxicogenomics Database:6426, Ensembl:ENSG00000136450, GenAtlas:SFRS1, GeneCard:SFRS1, GeneCard:SRSF1, HGNC:HGNC:10780, HumanCyc Gene:HS06162, ModBase:Q07955, NCBI Gene:6426, OMIM:600812, RefSeq DNA:NT_010783, RefSeq Protein:NP_001071634, RefSeq Protein:NP_008855, RefSeq RNA:NM_001078166, RefSeq RNA:NM_006924, RefSeq RNA:NR_034041, UCSC Genome Browser:NM_006924, UniProtKB:Q07955 No chr17 56078280 56084707 58000919 58007346 +PA28427 10772 HGNC:16713 ENSG00000188529 serine and arginine rich splicing factor 10 SRSF10 """SR splicing factor 10"", ""protein phosphatase 1, regulatory subunit 149"", ""serine/arginine-rich splicing factor 10"", ""splicing factor, arginine/serine-rich 13""" FUSIP1, FUSIP2, NSSR, PPP1R149, SFRS13, SFRS13A, SRp38, SRrp40, TASR1, TASR2 Yes No Comparative Toxicogenomics Database:10772, Ensembl:ENSG00000188529, GenAtlas:FUSIP1, GeneCard:FUSIP1, GeneCard:SRSF10, HGNC:HGNC:16713, ModBase:Q96G09, NCBI Gene:10772, OMIM:605221, RefSeq DNA:NT_004610, RefSeq DNA:NT_113878, RefSeq Protein:NP_001177934, RefSeq Protein:NP_001177935, RefSeq Protein:NP_001177936, RefSeq Protein:NP_001177938, RefSeq Protein:NP_006616, RefSeq Protein:NP_473357, RefSeq Protein:XP_001714010, RefSeq Protein:XP_001714031, RefSeq Protein:XP_002344487, RefSeq Protein:XP_002344488, RefSeq RNA:NM_001191005, RefSeq RNA:NM_001191006, RefSeq RNA:NM_001191007, RefSeq RNA:NM_001191009, RefSeq RNA:NM_006625, RefSeq RNA:NM_054016, RefSeq RNA:NR_034035, RefSeq RNA:XM_001713958, RefSeq RNA:XM_001713979, RefSeq RNA:XM_002344446, RefSeq RNA:XM_002344447, UCSC Genome Browser:NM_006625, UniProtKB:O75494 No chr1 24292935 24306953 23964347 23980927 +PA35698 9295 HGNC:10782 ENSG00000116754 serine and arginine rich splicing factor 11 SRSF11 SR splicing factor 11, serine/arginine-rich splicing factor 11 NET2, SFRS11, p54 Yes No Comparative Toxicogenomics Database:9295, Ensembl:ENSG00000116754, GenAtlas:SFRS11, GeneCard:SFRS11, GeneCard:SRSF11, HGNC:HGNC:10782, HumanCyc Gene:HS04049, ModBase:Q05519, NCBI Gene:9295, OMIM:602010, RefSeq DNA:NT_032977, RefSeq Protein:NP_001177916, RefSeq Protein:NP_004759, RefSeq RNA:NM_001190987, RefSeq RNA:NM_004768, UCSC Genome Browser:NM_004768, UniProtKB:Q05519 No chr1 70671365 70717703 70205682 70252020 +PA165618223 135295 HGNC:21220 ENSG00000154548 serine and arginine rich splicing factor 12 SRSF12 """SR splicing factor 12"", ""serine/arginine-rich splicing factor 12"", ""splicing factor, arginine/serine-rich 19""" SFRS13B, SFRS19, SRrp35 Yes No Ensembl:ENSG00000154548, GeneCard:SRSF12, HGNC:HGNC:21220, HumanCyc Gene:HS07986, NCBI Gene:135295, RefSeq DNA:NT_007299, RefSeq Protein:NP_542781, RefSeq RNA:NM_080743, UniProtKB:Q8WXF0 No chr6 89805678 89827800 89095957 89118081 +PA35699 6427 HGNC:10783 ENSG00000161547 serine and arginine rich splicing factor 2 SRSF2 SR splicing factor 2, serine/arginine-rich splicing factor 2 PR264, SC-35, SC35, SFRS2, SFRS2A Yes No Comparative Toxicogenomics Database:6427, Ensembl:ENSG00000161547, GenAtlas:SFRS2, GeneCard:SFRS2, GeneCard:SRSF2, HGNC:HGNC:10783, HumanCyc Gene:HS08592, ModBase:Q01130, NCBI Gene:6427, OMIM:600813, RefSeq DNA:NT_010641, RefSeq DNA:NT_010783, RefSeq Protein:NP_001182356, RefSeq Protein:NP_003007, RefSeq RNA:NM_001195427, RefSeq RNA:NM_003016, RefSeq RNA:NR_036608, UCSC Genome Browser:NM_003016, UniProtKB:Q01130 No chr17 74730197 74733493 76734115 76737431 +PA35701 6428 HGNC:10785 ENSG00000112081 serine and arginine rich splicing factor 3 SRSF3 serine/arginine-rich splicing factor 3 SFRS3, SRp20 Yes No Comparative Toxicogenomics Database:6428, Ensembl:ENSG00000112081, GenAtlas:SFRS3, GeneCard:SFRS3, GeneCard:SRSF3, HGNC:HGNC:10785, HumanCyc Gene:HS03511, ModBase:P84103, NCBI Gene:6428, OMIM:603364, RefSeq DNA:NT_007592, RefSeq Protein:NP_003008, RefSeq RNA:NM_003017, RefSeq RNA:NR_036610, UCSC Genome Browser:NM_003017, UniProtKB:B2R6F3, UniProtKB:P84103 No chr6 36562090 36572244 36594313 36604467 +PA35702 6429 HGNC:10786 ENSG00000116350 serine and arginine rich splicing factor 4 SRSF4 SR splicing factor 4, serine/arginine-rich splicing factor 4 SFRS4, SRP75 Yes No Ensembl:ENSG00000116350, GenAtlas:SFRS4, GeneCard:SFRS4, GeneCard:SRSF4, HGNC:HGNC:10786, HumanCyc Gene:HS04009, ModBase:Q08170, NCBI Gene:6429, OMIM:601940, RefSeq DNA:NT_004610, RefSeq Protein:NP_005617, RefSeq RNA:NM_005626, UCSC Genome Browser:NM_005626, UniProtKB:Q08170 No chr1 29474250 29508637 29147738 29182125 +PA35703 6430 HGNC:10787 ENSG00000100650 serine and arginine rich splicing factor 5 SRSF5 SR splicing factor 5, serine/arginine-rich splicing factor 5 HRS, SFRS5, SRP40 Yes No Comparative Toxicogenomics Database:6430, Ensembl:ENSG00000100650, GenAtlas:SFRS5, GeneCard:SFRS5, GeneCard:SRSF5, HGNC:HGNC:10787, HumanCyc Gene:HS02130, ModBase:Q13243, NCBI Gene:6430, OMIM:600914, RefSeq DNA:NT_026437, RefSeq Protein:NP_001034554, RefSeq Protein:NP_008856, RefSeq RNA:NM_001039465, RefSeq RNA:NM_006925, UCSC Genome Browser:NM_006925, UniProtKB:Q13243 No chr14 70233812 70238722 69767087 69772005 +PA35704 6431 HGNC:10788 ENSG00000124193 serine and arginine rich splicing factor 6 SRSF6 SR splicing factor 6, pre-mRNA splicing factor SRP55, serine/arginine-rich splicing factor 6 B52, SFRS6, SRP55 Yes No Comparative Toxicogenomics Database:6431, Ensembl:ENSG00000124193, GenAtlas:SFRS6, GeneCard:SFRS6, GeneCard:SRSF6, HGNC:HGNC:10788, HumanCyc Gene:HS04732, ModBase:Q13247, NCBI Gene:6431, OMIM:601944, RefSeq DNA:NT_011362, RefSeq Protein:NP_006266, RefSeq RNA:NM_006275, RefSeq RNA:NR_034009, UCSC Genome Browser:NM_006275, UniProtKB:Q13247 No chr20 42086504 42092245 43457864 43463605 +PA35705 6432 HGNC:10789 ENSG00000115875 serine and arginine rich splicing factor 7 SRSF7 SR splicing factor 7, serine/arginine-rich splicing factor 7 9G8, AAG3, HSSG1, RBM37, SFRS7, ZCCHC20, ZCRB2 Yes No Comparative Toxicogenomics Database:6432, Ensembl:ENSG00000115875, GenAtlas:SFRS7, GeneCard:SFRS7, GeneCard:SRSF7, HGNC:HGNC:10789, HumanCyc Gene:HS03947, ModBase:Q16629, NCBI Gene:6432, OMIM:600572, RefSeq DNA:NT_022184, RefSeq Protein:NP_001026854, RefSeq Protein:NP_001182375, RefSeq RNA:NM_001031684, RefSeq RNA:NM_001195446, UCSC Genome Browser:NM_006276, UniProtKB:Q16629, UniProtKB:Q564D3 No chr2 38970741 38978636 38743599 38751494 +PA165543687 10929 HGNC:16988 ENSG00000263465 serine and arginine rich splicing factor 8 SRSF8 SR splicing factor 8, serine/arginine-rich splicing factor 8 SFRS2B, SRP46 Yes No Ensembl:ENSG00000263465, GeneCard:SRSF8, HGNC:HGNC:16988, HumanCyc Gene:HS11526, ModBase:Q9BRL6, NCBI Gene:10929, OMIM:603269, RefSeq DNA:NT_008984, RefSeq DNA:NT_167190, RefSeq Protein:NP_115285, RefSeq RNA:NM_032102, UniProtKB:Q9BRL6 No chr11 94800041 94804387 95066877 95071227 +PA35707 8683 HGNC:10791 ENSG00000111786 serine and arginine rich splicing factor 9 SRSF9 SR splicing factor 9, serine/arginine-rich splicing factor 9 SFRS9, SRp30c Yes No Comparative Toxicogenomics Database:8683, Ensembl:ENSG00000111786, GenAtlas:SFRS9, GeneCard:SFRS9, GeneCard:SRSF9, HGNC:HGNC:10791, HumanCyc Gene:HS03465, ModBase:Q13242, NCBI Gene:8683, OMIM:601943, RefSeq DNA:NT_009775, RefSeq Protein:NP_003760, RefSeq RNA:NM_003769, UCSC Genome Browser:NM_003769, UniProtKB:Q13242 No chr12 120899471 120907558 120461668 120469755 +PA35708 54021 HGNC:10792 ENSG00000214867 serine/arginine-rich splicing factor 9 pseudogene 1 SRSF9P1 Yes No Ensembl:ENSG00000214867, GenAtlas:SFRS9P1, GeneCard:SRSF9P1, HGNC:HGNC:10792, NCBI Gene:54021, RefSeq DNA:NG_000902, RefSeq DNA:NT_011512 No chr21 37667129 37668090 36294831 36295792 +PA25681 140809 HGNC:16132 ENSG00000271303 sulfiredoxin 1 SRXN1 sulphiredoxin C20orf139, Npn3, SRX1, Srx, YKL086W, dJ850E9.2 Yes No Comparative Toxicogenomics Database:140809, Ensembl:ENSG00000271303, GenAtlas:SRXN1, GeneCard:SRXN1, HGNC:HGNC:16132, HumanCyc Gene:HS10446, ModBase:Q9BYN0, NCBI Gene:140809, RefSeq DNA:NT_011387, RefSeq Protein:NP_542763, RefSeq RNA:NM_080725, UCSC Genome Browser:NM_080725, UniProtKB:Q9BYN0 No chr20 627259 634014 646615 653370 +PA36135 6736 HGNC:11311 ENSG00000184895 sex determining region Y SRY testis-determining factor TDF Yes No Comparative Toxicogenomics Database:6736, Ensembl:ENSG00000184895, GenAtlas:SRY, GeneCard:SRY, HGNC:HGNC:11311, ModBase:Q05066, NCBI Gene:6736, OMIM:400044, OMIM:400045, OMIM:480000, RefSeq DNA:NG_011751, RefSeq DNA:NT_011896, RefSeq Protein:NP_003131, RefSeq RNA:NM_003140, UCSC Genome Browser:NM_003140, UniProtKB:A7WPU8, UniProtKB:Q05066 No chrY 2654896 2655782 2786855 2787741 +PA36164 6760 HGNC:11340 ENSG00000141380 SS18 subunit of BAF chromatin remodeling complex SS18 """SS18, nBAF chromatin remodeling complex subunit"", ""synovial sarcoma translocation, chromosome 18""" SMARCL1, SSXT, SYT Yes No Comparative Toxicogenomics Database:6760, Ensembl:ENSG00000141380, GenAtlas:SS18, GeneCard:SS18, HGNC:HGNC:11340, HumanCyc Gene:HS06819, ModBase:Q15532, NCBI Gene:6760, OMIM:600192, RefSeq DNA:NT_010966, RefSeq Protein:NP_001007560, RefSeq Protein:NP_005628, RefSeq RNA:NM_001007559, RefSeq RNA:NM_005637, UCSC Genome Browser:NM_005637, UniProtKB:Q15532, UniProtKB:Q4VAX0 No chr18 23596217 23671176 26016253 26091217 +PA37989 26039 HGNC:15592 ENSG00000184402 SS18L1 subunit of BAF chromatin remodeling complex SS18L1 """SS18L1, nBAF chromatin remodeling complex subunit"", ""calcium-responsive transactivator"", ""synovial sarcoma translocation gene on chromosome 18-like 1""" CREST, KIAA0693, SMARCL2 Yes No Ensembl:ENSG00000184402, GenAtlas:SS18L1, GeneCard:SS18L1, HGNC:HGNC:15592, HumanCyc Gene:HS00915, ModBase:O75177, NCBI Gene:26039, OMIM:606472, RefSeq DNA:NT_011362, RefSeq Protein:NP_945173, RefSeq RNA:NM_198935, UCSC Genome Browser:NM_015558, UniProtKB:O75177 No chr20 60718816 60757566 62143720 62182510 +PA37990 51188 HGNC:15593 ENSG00000008324 SS18 like 2 SS18L2 SYT homolog 2, synovial sarcoma translocation gene on chromosome 18-like 2 KIAA-iso Yes No Ensembl:ENSG00000008324, GenAtlas:SS18L2, GeneCard:SS18L2, HGNC:HGNC:15593, HumanCyc Gene:HS12029, NCBI Gene:51188, OMIM:606473, RefSeq DNA:NT_022517, RefSeq Protein:NP_057389, RefSeq RNA:NM_016305, UCSC Genome Browser:NM_016305, UniProtKB:Q9UHA2 No chr3 42623332 42636490 42581840 42594998 +PA36140 6741 HGNC:11316 ENSG00000138385 small RNA binding exonuclease protection factor La SSB """La autoantigen"", ""La ribonucleoprotein domain family, member 3"", ""Lupus La protein"", ""Sjogren syndrome antigen B"", ""Sjogren syndrome antigen B (autoantigen La)""" LARP3, La, La/SSB Yes No Comparative Toxicogenomics Database:6741, Ensembl:ENSG00000138385, GenAtlas:SSB, GeneCard:SSB, HGNC:HGNC:11316, HumanCyc Gene:HS06497, ModBase:P05455, NCBI Gene:6741, OMIM:109090, RefSeq DNA:NT_005403, RefSeq Protein:NP_003133, RefSeq RNA:NM_003142, UCSC Genome Browser:NM_003142, UniProtKB:P05455 No chr2 170655322 170668574 169798812 169812064 +PA36141 6742 HGNC:11317 ENSG00000106028 single stranded DNA binding protein 1 SSBP1 single-stranded DNA binding protein 1, mitochondrial SSBP, mtSSB Yes No Comparative Toxicogenomics Database:6742, Ensembl:ENSG00000106028, GenAtlas:SSBP1, GeneCard:SSBP1, HGNC:HGNC:11317, HumanCyc Gene:HS02851, ModBase:Q04837, NCBI Gene:6742, OMIM:600439, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_003134, RefSeq RNA:NM_003143, UCSC Genome Browser:NM_003143, UniProtKB:A4D1U3, UniProtKB:Q04837 No chr7 141438121 141450288 141738309 141750488 +PA38046 23635 HGNC:15831 ENSG00000145687 single stranded DNA binding protein 2 SSBP2 single-stranded DNA binding protein 2 HSPC116 Yes No Ensembl:ENSG00000145687, GenAtlas:SSBP2, GeneCard:SSBP2, HGNC:HGNC:15831, HumanCyc Gene:HS07272, ModBase:P81877, NCBI Gene:23635, OMIM:607389, RefSeq DNA:NT_006713, RefSeq Protein:NP_036578, RefSeq RNA:NM_012446, UCSC Genome Browser:NM_012446, UniProtKB:P81877, UniProtKB:Q9P038 No chr5 80713179 81047072 81417360 81751253 +PA38017 23648 HGNC:15674 ENSG00000157216 single stranded DNA binding protein 3 SSBP3 CSDP, FLJ10355, SSDP, SSDP1 Yes No Comparative Toxicogenomics Database:23648, Ensembl:ENSG00000157216, GenAtlas:SSBP3, GeneCard:SSBP3, HGNC:HGNC:15674, HumanCyc Gene:HS08192, ModBase:Q9BWW4, NCBI Gene:23648, OMIM:607390, RefSeq DNA:NT_032977, RefSeq DNA:NT_079592, RefSeq Protein:NP_001009955, RefSeq Protein:NP_060540, RefSeq Protein:NP_663768, RefSeq RNA:NM_001009955, RefSeq RNA:NM_018070, RefSeq RNA:NM_145716, UCSC Genome Browser:NM_018070, UniProtKB:Q9BWW4 No chr1 54691104 54872068 54225431 54413479 +PA38018 170463 HGNC:15676 ENSG00000130511 single stranded DNA binding protein 4 SSBP4 Yes No Comparative Toxicogenomics Database:170463, Ensembl:ENSG00000130511, GenAtlas:SSBP4, GeneCard:SSBP4, HGNC:HGNC:15676, HumanCyc Gene:HS05392, ModBase:Q9BWG4, NCBI Gene:170463, OMIM:607391, RefSeq DNA:NT_011295, RefSeq Protein:NP_001009998, RefSeq Protein:NP_116016, RefSeq RNA:NM_001009998, RefSeq RNA:NM_032627, UCSC Genome Browser:NM_032627, UniProtKB:Q9BWG4, UniProtKB:Q9BWW5 No chr19 18529679 18545372 18418719 18434562 +PA37883 136853 HGNC:14461 ENSG00000146700 scavenger receptor cysteine rich family member with 4 domains SSC4D """scavenger receptor cysteine rich domain containing, group B (4 domains)"", ""scavenger receptor cysteine rich family, 4 domains"", ""scavenger receptor cysteine-rich protein SRCRB-S4D""" S4D-SRCRB, SRCRB-S4D, SRCRB4D, SSC4D Yes No Comparative Toxicogenomics Database:136853, Ensembl:ENSG00000146700, GenAtlas:SRCRB4D, GeneCard:SRCRB4D, HGNC:HGNC:14461, HumanCyc Gene:HS07365, ModBase:Q8WTU2, NCBI Gene:136853, OMIM:607639, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_542782, RefSeq RNA:NM_080744, UCSC Genome Browser:NM_080744, UniProtKB:Q8WTU2 No chr7 76018646 76039012 76389329 76410025 +PA166048971 284297 HGNC:26641 ENSG00000179954 scavenger receptor cysteine rich family member with 5 domains SSC5D """scavenger receptor cysteine rich domain containing (5 domains)"", ""scavenger receptor cysteine rich family, 5 domains"", ""soluble scavenger with 5 domains""" FLJ35258, S5D-SRCRB Yes No Ensembl:ENSG00000179954, HGNC:HGNC:26641, NCBI Gene:284297 No chr19 55999870 56030466 55488503 55519099 +PA134941788 54434 HGNC:30579 ENSG00000084112 slingshot protein phosphatase 1 SSH1 KIAA1298, SSH1L Yes No Comparative Toxicogenomics Database:54434, Ensembl:ENSG00000084112, GeneCard:SSH1, HGNC:HGNC:30579, HumanCyc Gene:HS01467, ModBase:Q8WYL5, NCBI Gene:54434, OMIM:606778, RefSeq DNA:NT_029419, RefSeq Protein:NP_001154802, RefSeq Protein:NP_001154803, RefSeq Protein:NP_061857, RefSeq RNA:NM_001161330, RefSeq RNA:NM_001161331, RefSeq RNA:NM_018984, UniProtKB:Q8WYL5 No chr12 109176466 109251359 108782690 108857606 +PA134861867 85464 HGNC:30580 ENSG00000141298 slingshot protein phosphatase 2 SSH2 KIAA1725 Yes No Comparative Toxicogenomics Database:85464, Ensembl:ENSG00000141298, GeneCard:SSH2, HGNC:HGNC:30580, ModBase:Q76I76, NCBI Gene:85464, OMIM:606779, RefSeq DNA:NT_010799, RefSeq Protein:NP_203747, RefSeq RNA:NM_033389, UniProtKB:Q76I76 No chr17 27952956 28257231 29625938 29930239 +PA134929326 54961 HGNC:30581 ENSG00000172830 slingshot protein phosphatase 3 SSH3 FLJ10928, FLJ20515 Yes No Comparative Toxicogenomics Database:54961, Ensembl:ENSG00000172830, GeneCard:SSH3, HGNC:HGNC:30581, HumanCyc Gene:HS10577, ModBase:Q8TE77, NCBI Gene:54961, OMIM:606780, RefSeq DNA:NT_167190, RefSeq Protein:NP_060327, RefSeq RNA:NM_017857, UniProtKB:Q8TE77 No chr11 67070919 67080078 67303448 67312607 +PA162380490 136263 HGNC:29580 ENSG00000165120 serine rich single-pass membrane protein 1 SSMEM1 serine-rich single-pass membrane protein 1 C7orf45, FLJ40316 Yes No Ensembl:ENSG00000165120, GeneCard:C7orf45, HGNC:HGNC:29580, HumanCyc Gene:HS15287, NCBI Gene:136263, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_660311, RefSeq RNA:NM_145268, UniProtKB:A4D1L0, UniProtKB:Q8WWF3 No chr7 129839317 129856684 130205399 130216869 +PA36145 8636 HGNC:11321 ENSG00000176101 SS nuclear autoantigen 1 SSNA1 Sjogren syndrome nuclear autoantigen 1 N14, NA14 Yes No Ensembl:ENSG00000176101, GenAtlas:SSNA1, GeneCard:SSNA1, HGNC:HGNC:11321, HumanCyc Gene:HS10998, NCBI Gene:8636, OMIM:610882, RefSeq DNA:NT_024000, RefSeq Protein:NP_003722, RefSeq RNA:NM_003731, UCSC Genome Browser:NM_003731, UniProtKB:O43805 No chr9 140083029 140084822 137188602 137190370 +PA36146 8082 HGNC:11322 ENSG00000123096 sarcospan SSPN KRAG, SPN1, SPN2 Yes No Comparative Toxicogenomics Database:8082, Ensembl:ENSG00000123096, GenAtlas:SSPN, GeneCard:SSPN, HGNC:HGNC:11322, HumanCyc Gene:HS04627, ModBase:Q14714, NCBI Gene:8082, OMIM:601599, RefSeq DNA:NG_012011, RefSeq DNA:NT_009714, RefSeq Protein:NP_001129295, RefSeq Protein:NP_005077, RefSeq RNA:NM_001135823, RefSeq RNA:NM_005086, UCSC Genome Browser:NM_005086, UniProtKB:B3KS67, UniProtKB:Q14714 No chr12 26348032 26387710 26122024 26234777 +PA36147 6745 HGNC:11323 ENSG00000124783 signal sequence receptor subunit 1 SSR1 """signal sequence receptor, alpha"", ""translocon-associated protein alpha""" TRAPA Yes No Comparative Toxicogenomics Database:6745, Ensembl:ENSG00000124783, GenAtlas:SSR1, GeneCard:SSR1, HGNC:HGNC:11323, HumanCyc Gene:HS04832, NCBI Gene:6745, OMIM:600868, RefSeq DNA:NT_007592, RefSeq Protein:NP_003135, RefSeq RNA:NM_003144, UCSC Genome Browser:NM_003144, UniProtKB:P43307 No chr6 7281283 7313541 7281143 7313314 +PA36148 6746 HGNC:11324 ENSG00000163479 signal sequence receptor subunit 2 SSR2 """signal sequence receptor, beta (translocon-associated protein beta)"", ""translocon-associated protein beta""" TLAP, TRAPB Yes No Comparative Toxicogenomics Database:6746, Ensembl:ENSG00000163479, GenAtlas:SSR2, GeneCard:SSR2, HGNC:HGNC:11324, HumanCyc Gene:HS08856, ModBase:P43308, NCBI Gene:6746, OMIM:600867, RefSeq DNA:NT_004487, RefSeq Protein:NP_003136, RefSeq RNA:NM_003145, UCSC Genome Browser:NM_003145, UniProtKB:P43308 No chr1 155978839 155990758 156009048 156020992 +PA36149 6747 HGNC:11325 ENSG00000114850 signal sequence receptor subunit 3 SSR3 """signal sequence receptor, gamma (translocon-associated protein gamma)"", ""translocon-associated protein gamma""" TRAPG Yes No Comparative Toxicogenomics Database:6747, Ensembl:ENSG00000114850, GenAtlas:SSR3, GeneCard:SSR3, HGNC:HGNC:11325, HumanCyc Gene:HS03807, ModBase:Q9UNL2, NCBI Gene:6747, OMIM:606213, RefSeq DNA:NT_005612, RefSeq Protein:NP_009038, RefSeq RNA:NM_007107, UCSC Genome Browser:NM_007107, UniProtKB:Q9UNL2 No chr3 156257929 156272973 156539553 156555200 +PA36150 6748 HGNC:11326 ENSG00000180879 signal sequence receptor subunit 4 SSR4 """signal sequence receptor, delta"", ""translocon-associated protein delta""" TRAPD Yes No Comparative Toxicogenomics Database:6748, Ensembl:ENSG00000180879, GenAtlas:SSR4, GeneCard:SSR4, HGNC:HGNC:11326, NCBI Gene:6748, OMIM:300090, RefSeq DNA:NT_167198, RefSeq Protein:NP_001191455, RefSeq Protein:NP_001191456, RefSeq Protein:NP_006271, RefSeq RNA:NM_001204526, RefSeq RNA:NM_001204527, RefSeq RNA:NM_006280, RefSeq RNA:NR_037927, UCSC Genome Browser:NM_006280, UniProtKB:P51571 No chrX 153059630 153063967 153794175 153798512 +PA134978042 728039 HGNC:23131 ENSG00000235374 signal sequence receptor, delta pseudogene 1 SSR4P1 MGC10960, PRED57, PRED90 Yes No Ensembl:ENSG00000235374, GeneCard:SSR4P1, HGNC:HGNC:23131, NCBI Gene:728039, RefSeq DNA:NT_011515, RefSeq RNA:NR_027292 No chr21 46490870 46493126 45070955 45073211 +PA36151 6749 HGNC:11327 ENSG00000149136 structure specific recognition protein 1 SSRP1 facilitates chromatin remodeling 80 kDa subunit FACT80 Yes No Comparative Toxicogenomics Database:6749, Ensembl:ENSG00000149136, GenAtlas:SSRP1, GeneCard:SSRP1, HGNC:HGNC:11327, HumanCyc Gene:HS07588, ModBase:Q08945, NCBI Gene:6749, OMIM:604328, RefSeq DNA:NT_167190, RefSeq Protein:NP_003137, RefSeq RNA:NM_003146, UCSC Genome Browser:NM_003146, UniProtKB:Q08945 No chr11 57093459 57103351 57325985 57335877 +PA36153 6750 HGNC:11329 ENSG00000157005 somatostatin SST prepro-somatostatin, somatostatin-14, somatostatin-28 SMST, SST1 Yes No Comparative Toxicogenomics Database:6750, Ensembl:ENSG00000157005, GenAtlas:SST, GeneCard:SST, HGNC:HGNC:11329, HumanCyc Gene:HS08167, ModBase:P61278, NCBI Gene:6750, OMIM:182450, RefSeq DNA:NT_005612, RefSeq Protein:NP_001039, RefSeq RNA:NM_001048, UCSC Genome Browser:NM_001048, UniProtKB:P61278 No chr3 187386694 187388201 187668906 187670413 +PA36154 6751 HGNC:11330 ENSG00000139874 somatostatin receptor 1 SSTR1 Yes No Comparative Toxicogenomics Database:6751, Ensembl:ENSG00000139874, GenAtlas:SSTR1, GeneCard:SSTR1, HGNC:HGNC:11330, HumanCyc Gene:HS06664, IUPHAR Receptor:355, ModBase:P30872, NCBI Gene:6751, OMIM:182451, RefSeq DNA:NT_026437, RefSeq Protein:NP_001040, RefSeq RNA:NM_001049, UCSC Genome Browser:NM_001049, UniProtKB:P30872, UniProtKB:Q86SW9 No chr14 38677204 38682268 38207999 38213063 +PA36155 6752 HGNC:11331 ENSG00000180616 somatostatin receptor 2 SSTR2 Yes No Comparative Toxicogenomics Database:6752, Ensembl:ENSG00000180616, GenAtlas:SSTR2, GeneCard:SSTR2, HGNC:HGNC:11331, HumanCyc Gene:HS11511, IUPHAR Receptor:356, ModBase:P30874, NCBI Gene:6752, OMIM:182452, RefSeq DNA:NT_010783, RefSeq Protein:NP_001041, RefSeq RNA:NM_001050, UCSC Genome Browser:NM_001050, UniProtKB:P30874 No chr17 71161160 71168094 73165021 73171955 +PA36156 6753 HGNC:11332 ENSG00000278195 somatostatin receptor 3 SSTR3 Yes No Comparative Toxicogenomics Database:6753, Ensembl:ENSG00000278195, GenAtlas:SSTR3, GeneCard:SSTR3, HGNC:HGNC:11332, IUPHAR Receptor:357, ModBase:P32745, NCBI Gene:6753, OMIM:182453, RefSeq DNA:NT_011520, RefSeq Protein:NP_001042, RefSeq RNA:NM_001051, UCSC Genome Browser:NM_001051, UniProtKB:P32745, UniProtKB:Q86YF2 No chr22 37600277 37616472 37204237 37220451 +PA36157 6754 HGNC:11333 ENSG00000132671 somatostatin receptor 4 SSTR4 Yes No Comparative Toxicogenomics Database:6754, Ensembl:ENSG00000132671, GenAtlas:SSTR4, GeneCard:SSTR4, HGNC:HGNC:11333, HumanCyc Gene:HS05672, IUPHAR Receptor:358, ModBase:P31391, NCBI Gene:6754, OMIM:182454, RefSeq DNA:NT_011387, RefSeq Protein:NP_001043, RefSeq RNA:NM_001052, UCSC Genome Browser:NM_001052, UniProtKB:P31391 No chr20 23016057 23017314 23035420 23036677 +PA36158 6755 HGNC:11334 ENSG00000162009 somatostatin receptor 5 SSTR5 Yes No Comparative Toxicogenomics Database:6755, Ensembl:ENSG00000162009, GenAtlas:SSTR5, GeneCard:SSTR5, HGNC:HGNC:11334, HumanCyc Gene:HS08635, IUPHAR Receptor:359, ModBase:P35346, NCBI Gene:6755, OMIM:102200, OMIM:182455, RefSeq DNA:NG_016744, RefSeq DNA:NT_010393, RefSeq Protein:NP_001044, RefSeq Protein:NP_001166031, RefSeq RNA:NM_001053, RefSeq RNA:NM_001172560, UCSC Genome Browser:NM_001053, UniProtKB:P35346, UniProtKB:Q541E0 No chr16 1122756 1131454 1072756 1081454 +PA142670866 29101 HGNC:25016 ENSG00000160075 SSU72 homolog, RNA polymerase II CTD phosphatase SSU72 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) HSPC182 Yes Yes Comparative Toxicogenomics Database:29101, Ensembl:ENSG00000160075, GeneCard:SSU72, HGNC:HGNC:25016, HumanCyc Gene:HS08444, ModBase:Q9NP77, NCBI Gene:29101, RefSeq DNA:NT_004350, RefSeq Protein:NP_054907, RefSeq RNA:NM_014188, UniProtKB:Q9NP77 No chr1 1477053 1510262 1541673 1574882 +PA166352193 390033 HGNC:43626 SSU72 like 1 SSU72L1 SSU72P7 Yes No HGNC:HGNC:43626, NCBI Gene:390033 No 0 0 0 0 +PA166352194 390031 HGNC:43621 SSU72 like 2 SSU72L2 SSU72P2 Yes No HGNC:HGNC:43621, NCBI Gene:390031 No 0 0 0 0 +PA166352195 143506 HGNC:43622 SSU72 like 3 SSU72L3 SSU72P3 Yes No HGNC:HGNC:43622, NCBI Gene:143506 No 0 0 0 0 +PA166352196 441584 HGNC:43623 SSU72 like 4 SSU72L4 SSU72P4 Yes No HGNC:HGNC:43623, NCBI Gene:441584 No 0 0 0 0 +PA166352197 196120 HGNC:43624 SSU72 like 5 SSU72L5 SSU72P5 Yes No HGNC:HGNC:43624, NCBI Gene:196120 No 0 0 0 0 +PA166352198 136157 HGNC:43627 SSU72 like 6 SSU72L6 SSU72P8 Yes No HGNC:HGNC:43627, NCBI Gene:136157 No 0 0 0 0 +PA142672393 51066 HGNC:24809 ENSG00000125046 ssu-2 homolog SSUH2 ssu-2 homolog (C. elegans) C3orf32, fls485, ssu-2 Yes No Ensembl:ENSG00000125046, GeneCard:C3orf32, HGNC:HGNC:24809, HumanCyc Gene:HS04850, ModBase:Q9Y2M2, NCBI Gene:51066, RefSeq DNA:NT_022517, RefSeq Protein:NP_057015, RefSeq RNA:NM_015931, UniProtKB:Q9Y2M2 No chr3 8661086 8786721 8619400 8745035 +PA36159 6756 HGNC:11335 ENSG00000126752 SSX family member 1 SSX1 """cancer/testis antigen family 5, member 1"", ""synovial sarcoma, X breakpoint 1""" CT5.1 Yes No Comparative Toxicogenomics Database:6756, Ensembl:ENSG00000126752, GenAtlas:SSX1, GeneCard:SSX1, HGNC:HGNC:11335, HumanCyc Gene:HS05042, ModBase:Q16384, NCBI Gene:6756, OMIM:312820, RefSeq DNA:NG_012528, RefSeq DNA:NT_079573, RefSeq Protein:NP_005626, RefSeq RNA:NM_005635, UCSC Genome Browser:NM_005635, UniProtKB:Q16384 No chrX 48114752 48126879 48255317 48267444 +PA36160 6757 HGNC:11336 ENSG00000157950, ENSG00000241476 SSX family member 2 SSX2 """cancer/testis antigen family 5, member 2a"", ""sarcoma, synovial, X-chromosome-related 2"", ""synovial sarcoma, X breakpoint 2"", ""synovial sarcoma, X breakpoint 2, isoform b"", ""synovial sarcoma, X breakpoint 2B""" CT5.2a, HD21, HOM-MEL-40, MGC119055, MGC15364, MGC3884, SSX Yes No Ensembl:ENSG00000157950, Ensembl:ENSG00000241476, GenAtlas:SSX2, GeneCard:SSX2, HGNC:HGNC:11336, HumanCyc Gene:HS08256, NCBI Gene:6757, OMIM:300192, RefSeq DNA:NT_011630, RefSeq Protein:NP_003138, RefSeq Protein:NP_783629, RefSeq RNA:NM_003147, RefSeq RNA:NM_175698, UCSC Genome Browser:NM_003147 No chrX 52725946 52736277 52696896 52707227 +PA162404839 727837 HGNC:22263 ENSG00000268447 SSX family member 2B SSX2B """cancer/testis antigen family 5, member 2b"", ""synovial sarcoma, X breakpoint 2B""" CT5.2b Yes No Ensembl:ENSG00000268447, GeneCard:SSX2B, HGNC:HGNC:22263, NCBI Gene:727837, RefSeq DNA:NT_011630, RefSeq Protein:NP_001157889, RefSeq Protein:XP_001720551, RefSeq RNA:NM_001164417, RefSeq RNA:XM_001720499, UniProtKB:Q16385 No chrX 52780281 52790617 52751204 52761536 +PA38155 117178 HGNC:16509 ENSG00000117155 SSX family member 2 interacting protein SSX2IP synovial sarcoma, X breakpoint 2 interacting protein hMsd1 Yes No Comparative Toxicogenomics Database:117178, Ensembl:ENSG00000117155, GenAtlas:SSX2IP, GeneCard:SSX2IP, HGNC:HGNC:16509, HumanCyc Gene:HS12892, ModBase:Q9Y2D8, NCBI Gene:117178, OMIM:608690, RefSeq DNA:NT_032977, RefSeq Protein:NP_001159765, RefSeq Protein:NP_001159766, RefSeq Protein:NP_001159767, RefSeq Protein:NP_001159889, RefSeq Protein:NP_054740, RefSeq RNA:NM_001166293, RefSeq RNA:NM_001166294, RefSeq RNA:NM_001166295, RefSeq RNA:NM_001166417, RefSeq RNA:NM_014021, UCSC Genome Browser:NM_014021, UniProtKB:B4DFE3, UniProtKB:B7ZB07, UniProtKB:Q9Y2D8 No chr1 85109390 85156440 84643707 84690757 +PA36161 10214 HGNC:11337 ENSG00000165584 SSX family member 3 SSX3 synovial sarcoma, X breakpoint 3 CT5.3 Yes No Ensembl:ENSG00000165584, GenAtlas:SSX3, GeneCard:SSX3, HGNC:HGNC:11337, HumanCyc Gene:HS09252, ModBase:Q99909, NCBI Gene:10214, OMIM:300325, RefSeq DNA:NG_012561, RefSeq DNA:NT_079573, RefSeq Protein:NP_066294, RefSeq Protein:NP_783642, RefSeq RNA:NM_021014, RefSeq RNA:NM_175711, UCSC Genome Browser:NM_021014, UniProtKB:Q99909, UniProtKB:Q9BRW7 No chrX 48205863 48216203 48346428 48356753 +PA36162 6759 HGNC:11338 ENSG00000198946, ENSG00000204645 SSX family member 4 SSX4 synovial sarcoma, X breakpoint 4 CT5.4 Yes No Ensembl:ENSG00000198946, Ensembl:ENSG00000204645, GenAtlas:SSX4, GeneCard:SSX4, HGNC:HGNC:11338, NCBI Gene:6759, OMIM:300326, RefSeq DNA:NG_005575, RefSeq DNA:NT_079573, RefSeq Protein:NP_005627, RefSeq Protein:NP_783856, RefSeq RNA:NM_005636, RefSeq RNA:NM_175729, UCSC Genome Browser:NM_005636, UniProtKB:A8MYD4, UniProtKB:O60224 No chrX 48242968 48252785 48383527 48393343 +PA142670867 548313 HGNC:16880 ENSG00000269791 SSX family member 4B SSX4B synovial sarcoma, X breakpoint 4B OTTHUMT00000056510 Yes No Ensembl:ENSG00000269791, GeneCard:SSX4B, HGNC:HGNC:16880, NCBI Gene:548313, RefSeq DNA:NG_005575, RefSeq DNA:NT_079573, RefSeq Protein:NP_001030004, RefSeq Protein:NP_001035702, RefSeq RNA:NM_001034832, RefSeq RNA:NM_001040612 No chrX 48261524 48271355 48402082 48411910 +PA36163 6758 HGNC:11339 ENSG00000165583 SSX family member 5 SSX5 synovial sarcoma, X breakpoint 5 Yes No Ensembl:ENSG00000165583, GenAtlas:SSX5, GeneCard:SSX5, HGNC:HGNC:11339, HumanCyc Gene:HS09251, ModBase:O60225, NCBI Gene:6758, OMIM:300327, RefSeq DNA:NG_012529, RefSeq DNA:NT_079573, RefSeq Protein:NP_066295, RefSeq Protein:NP_783729, RefSeq RNA:NM_021015, RefSeq RNA:NM_175723, UCSC Genome Browser:NM_021015, UniProtKB:O60225 No chrX 48045656 48056199 48177914 48196798 +PA134879420 280658 HGNC:19653 ENSG00000187754 SSX family member 7 SSX7 synovial sarcoma, X breakpoint 7 Yes No Ensembl:ENSG00000187754, GeneCard:SSX7, HGNC:HGNC:19653, ModBase:Q7RTT5, NCBI Gene:280658, OMIM:300542, RefSeq DNA:NT_011630, RefSeq Protein:NP_775494, RefSeq RNA:NM_173358, UniProtKB:Q7RTT5 No chrX 52673111 52683950 52644061 52654900 +PA36167 6767 HGNC:11343 ENSG00000100380 ST13 Hsp70 interacting protein ST13 """ST13, Hsp70 interacting protein"", ""progesterone receptor-associated p48 protein"", ""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)""" FAM10A1, HIP, HSPABP1, P48, SNC6 Yes Yes Comparative Toxicogenomics Database:6767, Ensembl:ENSG00000100380, GenAtlas:ST13, GeneCard:ST13, HGNC:HGNC:11343, HumanCyc Gene:HS02067, ModBase:P50502, NCBI Gene:6767, OMIM:606796, RefSeq DNA:NT_011520, RefSeq DNA:NT_079596, RefSeq Protein:NP_003923, RefSeq RNA:NM_003932, UCSC Genome Browser:NM_003932, UniProtKB:P50502, UniProtKB:Q2TU77 No chr22 41220539 41253012 40824535 40857008 +PA38571 144638 HGNC:18552 ENSG00000257773 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 3 ST13P3 FAM10A3P Yes No Ensembl:ENSG00000257773, GenAtlas:FAM10A3, GeneCard:ST13P3, HGNC:HGNC:18552, NCBI Gene:144638, RefSeq DNA:NG_004762, RefSeq DNA:NT_019546 No chr12 106409591 106412187 106015813 106018409 +PA38550 145165 HGNC:18487 ENSG00000232150 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4 ST13P4 FAM10A4P Yes No Ensembl:ENSG00000232150, GenAtlas:FAM10A4, GeneCard:ST13P4, HGNC:HGNC:18487, ModBase:Q8IZP2, NCBI Gene:145165, RefSeq DNA:NT_024524, RefSeq RNA:NR_002183, UCSC Genome Browser:NM_153290 No chr13 50746154 50747752 50172018 50173616 +PA38574 144106 HGNC:18556 ENSG00000179714, ENSG00000212789 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 5 ST13P5 Yes No Ensembl:ENSG00000179714, Ensembl:ENSG00000212789, GenAtlas:FAM10A5, GeneCard:ST13P5, HGNC:HGNC:18556, ModBase:Q8NFI4, NCBI Gene:144106, RefSeq DNA:NG_005653, RefSeq DNA:NT_009237, UCSC Genome Browser:NM_153291 No chr11 18283432 18285048 18261885 18263501 +PA38575 157530 HGNC:18557 ENSG00000225259 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 6 ST13P6 FAM10A6P Yes No Ensembl:ENSG00000225259, GenAtlas:FAM10A6, GeneCard:ST13P6, HGNC:HGNC:18557, NCBI Gene:157530, RefSeq DNA:NG_007353, RefSeq DNA:NT_008046, RefSeq RNA:NR_002199 No chr8 134420107 134421768 133407664 133409525 +PA38576 155019 HGNC:18558 ENSG00000237821 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 7 ST13P7 FAM10A7P Yes No Ensembl:ENSG00000237821, GenAtlas:FAM10A7, GeneCard:ST13P7, HGNC:HGNC:18558, NCBI Gene:155019, RefSeq DNA:NG_008738, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_002198 No chr7 132852760 132855356 133168002 133170598 +PA36168 6768 HGNC:11344 ENSG00000149418 ST14 transmembrane serine protease matriptase ST14 channel–activating protein 3, epithin, matriptase, suppression of tumorigenicity 14, suppression of tumorigenicity 14 (colon carcinoma) CAP3, HAI, MT-SP1, PRSS14, SNC19, TMPRSS14 Yes No Comparative Toxicogenomics Database:6768, Ensembl:ENSG00000149418, GenAtlas:ST14, GeneCard:ST14, HGNC:HGNC:11344, HumanCyc Gene:HS07609, ModBase:Q9Y5Y6, NCBI Gene:6768, OMIM:606797, OMIM:610765, RefSeq DNA:NG_012132, RefSeq DNA:NT_033899, RefSeq Protein:NP_068813, RefSeq RNA:NM_021978, UCSC Genome Browser:NM_021978, UniProtKB:Q9Y5Y6 No chr11 130029682 130080257 130159787 130210362 +PA38642 9705 HGNC:18695 ENSG00000147488 ST18 C2H2C-type zinc finger transcription factor ST18 """ST18, C2H2C-type zinc finger"", ""neural zinc finger transcription factor 3"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"", ""suppression of tumorigenicity 18, zinc finger""" KIAA0535, NZF-3, NZF3, ZC2H2C3, ZC2HC10, ZNF387 Yes No Ensembl:ENSG00000147488, GeneCard:ST18, HGNC:HGNC:18695, HumanCyc Gene:HS07442, ModBase:O60284, NCBI Gene:9705, RefSeq DNA:NT_008183, RefSeq Protein:NP_055497, RefSeq RNA:NM_014682, UCSC Genome Browser:NM_014682, UniProtKB:O60284 No chr8 53023392 53322439 52110832 52409879 +PA162404859 400410 HGNC:33520 ENSG00000180953 suppressor of tumorigenicity 20 ST20 HCCS-1 Yes No Ensembl:ENSG00000180953, GeneCard:ST20, HGNC:HGNC:33520, NCBI Gene:400410, RefSeq DNA:NT_010194, RefSeq Protein:NP_001094349, RefSeq Protein:NP_001094350, RefSeq Protein:NP_001186686, RefSeq RNA:NM_001100879, RefSeq RNA:NM_001100880, RefSeq RNA:NM_001199757, RefSeq RNA:NR_037652, RefSeq RNA:NR_037653, UniProtKB:Q9HBF5 No chr15 80191182 80216096 79898840 79923754 +PA35764 6482 HGNC:10862 ENSG00000008513 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 ST3GAL1 """CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase"", ""ST3Gal I""" SIAT4A, SIATFL, ST3GalA.1, ST3O Yes No Comparative Toxicogenomics Database:6482, Ensembl:ENSG00000008513, GenAtlas:ST3GAL1, GeneCard:ST3GAL1, HGNC:HGNC:10862, HumanCyc Gene:HS00250, ModBase:Q11201, NCBI Gene:6482, OMIM:607187, RefSeq DNA:NT_008046, RefSeq Protein:NP_003024, RefSeq Protein:NP_775479, RefSeq RNA:NM_003033, RefSeq RNA:NM_173344, UCSC Genome Browser:NM_003033, UniProtKB:Q11201 No chr8 134467091 134584697 133454848 133572454 +PA35765 6483 HGNC:10863 ENSG00000157350 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ST3GAL2 SIAT4B, ST3GALII, ST3GalA.2 Yes No Ensembl:ENSG00000157350, GenAtlas:ST3GAL2, GeneCard:ST3GAL2, HGNC:HGNC:10863, HumanCyc Gene:HS08206, ModBase:Q16842, NCBI Gene:6483, OMIM:607188, RefSeq DNA:NT_010498, RefSeq Protein:NP_008858, RefSeq RNA:NM_006927, UCSC Genome Browser:NM_006927, UniProtKB:B3KXG9, UniProtKB:Q16842 No chr16 70413338 70472991 70379435 70439088 +PA35768 6487 HGNC:10866 ENSG00000126091 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ST3GAL3 """N-acetyllactosaminide alpha-2,3-sialyltransferase"", ""ST3Gal III""" MRT12, SIAT6 Yes No Ensembl:ENSG00000126091, GenAtlas:ST3GAL3, GeneCard:ST3GAL3, HGNC:HGNC:10866, HumanCyc Gene:HS04994, ModBase:Q8IX57, NCBI Gene:6487, OMIM:606494, RefSeq DNA:NT_032977, RefSeq Protein:NP_006270, RefSeq Protein:NP_777623, RefSeq Protein:NP_777624, RefSeq Protein:NP_777625, RefSeq Protein:NP_777626, RefSeq Protein:NP_777627, RefSeq Protein:NP_777628, RefSeq Protein:NP_777629, RefSeq Protein:NP_777630, RefSeq Protein:NP_777631, RefSeq RNA:NM_006279, RefSeq RNA:NM_174963, RefSeq RNA:NM_174964, RefSeq RNA:NM_174965, RefSeq RNA:NM_174966, RefSeq RNA:NM_174967, RefSeq RNA:NM_174968, RefSeq RNA:NM_174969, RefSeq RNA:NM_174970, RefSeq RNA:NM_174971, UCSC Genome Browser:NM_006279, UniProtKB:B4DX62, UniProtKB:Q11203, UniProtKB:Q5T4W8, UniProtKB:Q5T4Y1, UniProtKB:Q96L53 No chr1 44173204 44396837 43707497 43931165 +PA35766 6484 HGNC:10864 ENSG00000110080 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ST3GAL4 ST3Gal IV CGS23, FLJ11867, NANTA3, SAT3, SIAT4, SIAT4C, STZ Yes No Comparative Toxicogenomics Database:6484, Ensembl:ENSG00000110080, GenAtlas:ST3GAL4, GeneCard:ST3GAL4, HGNC:HGNC:10864, HumanCyc Gene:HS03285, ModBase:Q11206, NCBI Gene:6484, OMIM:104240, RefSeq DNA:NT_033899, RefSeq Protein:NP_006269, RefSeq RNA:NM_006278, UCSC Genome Browser:NM_006278, UniProtKB:Q11206, UniProtKB:Q6IBE6 No chr11 126225540 126284536 126355645 126459601 +PA35773 8869 HGNC:10872 ENSG00000115525 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ST3GAL5 """ganglioside GM3 synthase"", ""lactosylceramide alpha-2,3-sialyltransferase""" SIAT9, SIATGM3S, ST3GalV Yes No Comparative Toxicogenomics Database:8869, Ensembl:ENSG00000115525, GenAtlas:ST3GAL5, GeneCard:ST3GAL5, HGNC:HGNC:10872, HumanCyc Gene:HS03904, ModBase:Q9UNP4, NCBI Gene:8869, OMIM:604402, OMIM:609056, RefSeq DNA:NG_012807, RefSeq DNA:NT_022184, RefSeq Protein:NP_001035902, RefSeq Protein:NP_003887, RefSeq RNA:NM_001042437, RefSeq RNA:NM_003896, UCSC Genome Browser:NM_003896, UniProtKB:Q9UNP4 No chr2 86066271 86116157 85839148 85889034 +PA134958548 10402 HGNC:18080 ENSG00000064225 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 ST3GAL6 SIAT10, ST3GALVI Yes No Comparative Toxicogenomics Database:10402, Ensembl:ENSG00000064225, GeneCard:ST3GAL6, HGNC:HGNC:18080, HumanCyc Gene:HS00798, ModBase:Q9Y274, NCBI Gene:10402, OMIM:607156, RefSeq DNA:NT_005612, RefSeq Protein:NP_006091, RefSeq RNA:NM_006100, UniProtKB:Q9Y274 No chr3 98451080 98514689 98732236 98795845 +PA35762 6480 HGNC:10860 ENSG00000073849 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ST6GAL1 """ST6 beta-galactosamide alpha-2,6-sialyltranferase 1"", ""ST6Gal I""" CDw75, SIAT1 Yes No Comparative Toxicogenomics Database:6480, Ensembl:ENSG00000073849, GenAtlas:ST6GAL1, GeneCard:ST6GAL1, HGNC:HGNC:10860, HumanCyc Gene:HS01118, ModBase:P15907, NCBI Gene:6480, OMIM:109675, RefSeq DNA:NT_005612, RefSeq Protein:NP_003023, RefSeq Protein:NP_775323, RefSeq Protein:NP_775324, RefSeq RNA:NM_003032, RefSeq RNA:NM_173216, RefSeq RNA:NM_173217, UCSC Genome Browser:NM_003032, UniProtKB:B2R513, UniProtKB:P15907 No chr3 186648315 186796341 186930343 187078553 +PA35763 84620 HGNC:10861 ENSG00000144057 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 ST6GAL2 ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 KIAA1877, SIAT2, St6GalII, St6gal2 Yes No Ensembl:ENSG00000144057, GenAtlas:ST6GAL2, GeneCard:ST6GAL2, HGNC:HGNC:10861, HumanCyc Gene:HS07144, ModBase:Q96JF0, NCBI Gene:84620, OMIM:608472, RefSeq DNA:NT_022171, RefSeq Protein:NP_001135823, RefSeq Protein:NP_001135824, RefSeq Protein:NP_115917, RefSeq RNA:NM_001142351, RefSeq RNA:NM_001142352, RefSeq RNA:NM_032528, UniProtKB:Q96JF0 No chr2 107418056 107503563 106801600 106887410 +PA134935906 55808 HGNC:23614 ENSG00000070526 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 SIAT7A, ST6GalNAcI Yes No Ensembl:ENSG00000070526, GeneCard:ST6GALNAC1, HGNC:HGNC:23614, HumanCyc Gene:HS00998, ModBase:Q9NSC7, NCBI Gene:55808, OMIM:610138, RefSeq DNA:NT_010783, RefSeq Protein:NP_060884, RefSeq RNA:NM_018414, UniProtKB:Q9NSC7, UniProtKB:Q9NXQ7 No chr17 74620838 74639894 76617769 76643838 +PA35769 10610 HGNC:10867 ENSG00000070731 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 ST6GALNAC2 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 SIAT7, SIAT7B, SIATL1, ST6GalNAII, STHM Yes No Comparative Toxicogenomics Database:10610, Ensembl:ENSG00000070731, GenAtlas:ST6GALNAC2, GeneCard:ST6GALNAC2, HGNC:HGNC:10867, HumanCyc Gene:HS01005, ModBase:Q9UJ37, NCBI Gene:10610, OMIM:610137, RefSeq DNA:NT_010783, RefSeq Protein:NP_006447, RefSeq RNA:NM_006456, UniProtKB:Q9UJ37 No chr17 74561461 74582145 76565379 76586066 +PA134984080 256435 HGNC:19343 ENSG00000184005 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 ST6GALNAC3 """ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3"", ""ST6GALNAC III""" SIAT7C Yes No Comparative Toxicogenomics Database:256435, Ensembl:ENSG00000184005, GeneCard:ST6GALNAC3, HGNC:HGNC:19343, HumanCyc Gene:HS11944, ModBase:Q8NDV1, NCBI Gene:256435, OMIM:610133, RefSeq DNA:NT_032977, RefSeq Protein:NP_001153483, RefSeq Protein:NP_694541, RefSeq RNA:NM_001160011, RefSeq RNA:NM_152996, UniProtKB:Q8NDV1 No chr1 76540389 77100311 76074684 76632880 +PA38250 27090 HGNC:17846 ENSG00000136840 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ST6GALNAC4 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 SIAT3C, SIAT7D, ST6GALNACIV Yes No Comparative Toxicogenomics Database:27090, Ensembl:ENSG00000136840, GenAtlas:ST6GALNAC4, GeneCard:ST6GALNAC4, HGNC:HGNC:17846, HumanCyc Gene:HS06223, ModBase:Q9H4F1, NCBI Gene:27090, OMIM:606378, RefSeq DNA:NT_008470, RefSeq Protein:NP_778204, RefSeq Protein:NP_778205, RefSeq RNA:NM_175039, RefSeq RNA:NM_175040, UCSC Genome Browser:NM_014403, UniProtKB:A8K7N4, UniProtKB:Q9H4F1 No chr9 130670165 130679326 127907886 127917052 +PA134924485 81849 HGNC:19342 ENSG00000117069 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 ST6GALNAC5 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 MGC3184, SIAT7E, ST6GalNAcV Yes No Comparative Toxicogenomics Database:81849, Ensembl:ENSG00000117069, GeneCard:ST6GALNAC5, HGNC:HGNC:19342, HumanCyc Gene:HS04090, ModBase:Q9BVH7, NCBI Gene:81849, OMIM:610134, RefSeq DNA:NT_032977, RefSeq Protein:NP_112227, RefSeq RNA:NM_030965, UniProtKB:Q9BVH7 No chr1 77333126 77533223 76867408 77069167 +PA134891331 30815 HGNC:23364 ENSG00000160408 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ST6GALNAC6 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 SIAT7F, ST6GALNACVI Yes No Ensembl:ENSG00000160408, GeneCard:ST6GALNAC6, HGNC:HGNC:23364, HumanCyc Gene:HS08498, ModBase:Q969X2, NCBI Gene:30815, OMIM:610135, RefSeq DNA:NT_008470, RefSeq Protein:NP_038471, RefSeq RNA:NM_013443, UniProtKB:Q969X2 No chr9 130647600 130669010 127885321 127906725 +PA36173 7982 HGNC:11351 ENSG00000004866 suppression of tumorigenicity 7 ST7 ETS7q, FAM4A, FAM4A1, HELG, RAY1, SEN4, TSG7 Yes No Comparative Toxicogenomics Database:7982, Ensembl:ENSG00000004866, GenAtlas:ST7, GeneCard:ST7, HGNC:HGNC:11351, HumanCyc Gene:HS11999, ModBase:Q9BWX3, NCBI Gene:7982, OMIM:600833, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_060882, RefSeq Protein:NP_068708, RefSeq RNA:NM_018412, RefSeq RNA:NM_021908, UCSC Genome Browser:NM_018412, UniProtKB:Q9NRC1 No chr7 116593381 116870077 116953327 117230023 +PA38080 93653 HGNC:16000 ENSG00000227199 ST7 antisense RNA 1 ST7-AS1 ST7 overlapping transcript antisense 1 ST7AS1 Yes No Ensembl:ENSG00000227199, GenAtlas:ST7OT1, GeneCard:ST7OT1, HGNC:HGNC:16000, HumanCyc Gene:HS11845, NCBI Gene:93653, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_002330 No chr7 116592500 116594388 116952446 116954334 +PA38083 93654 HGNC:16044 ENSG00000226367 ST7 antisense RNA 2 ST7-AS2 ST7 overlapping transcript antisense 2 ST7AS2 Yes No Ensembl:ENSG00000226367, GenAtlas:ST7OT2, GeneCard:ST7OT2, HGNC:HGNC:16044, HumanCyc Gene:HS11846, NCBI Gene:93654, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_002331 No chr7 116752346 116785614 117072072 117145592 +PA38331 54879 HGNC:18441 ENSG00000007341 suppression of tumorigenicity 7 like ST7L FAM4B, FLJ20284, ST7R, STLR Yes No Comparative Toxicogenomics Database:54879, Ensembl:ENSG00000007341, GenAtlas:ST7L, GeneCard:ST7L, HGNC:HGNC:18441, HumanCyc Gene:HS12022, ModBase:Q8N7P8, NCBI Gene:54879, RefSeq DNA:NT_032977, RefSeq Protein:NP_060214, RefSeq Protein:NP_620055, RefSeq Protein:NP_620056, RefSeq Protein:NP_620057, RefSeq RNA:NM_017744, RefSeq RNA:NM_138727, RefSeq RNA:NM_138728, RefSeq RNA:NM_138729, UCSC Genome Browser:NM_017744, UniProtKB:Q8TDW4 No chr1 113066140 113162040 112517444 112620838 +PA134976888 93655 HGNC:16045 ST7 overlapping transcript 3 (non-protein coding) ST7-OT3 non-protein coding RNA 26 NCRNA00026 Yes No GeneCard:ST7OT3, HGNC:HGNC:16045, NCBI Gene:93655, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_002332 No chr7 116822735 116849991 117182681 117209937 +PA134980990 338069 HGNC:18835 ENSG00000214188 ST7 overlapping transcript 4 ST7-OT4 non-protein coding RNA 42 NCRNA00042 Yes No Ensembl:ENSG00000214188, GeneCard:ST7OT4, HGNC:HGNC:18835, NCBI Gene:338069, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq RNA:NR_002329 No chr7 116593953 116599867 116953899 116959813 +PA35770 6489 HGNC:10869 ENSG00000111728 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 ST8SIA1 ST8Sia I SIAT8, SIAT8A Yes No Comparative Toxicogenomics Database:6489, Ensembl:ENSG00000111728, GenAtlas:ST8SIA1, GeneCard:ST8SIA1, HGNC:HGNC:10869, HumanCyc Gene:HS03456, ModBase:Q92185, NCBI Gene:6489, OMIM:601123, RefSeq DNA:NT_009714, RefSeq Protein:NP_003025, RefSeq RNA:NM_003034, UCSC Genome Browser:NM_003034, UniProtKB:Q92185 No chr12 22346325 22487648 22193391 22334714 +PA35771 8128 HGNC:10870 ENSG00000140557 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 ST8SIA2 HsT19690, SIAT8B, ST8SIA-II, STX Yes No Ensembl:ENSG00000140557, GenAtlas:ST8SIA2, GeneCard:ST8SIA2, HGNC:HGNC:10870, HumanCyc Gene:HS06739, ModBase:Q92186, NCBI Gene:8128, OMIM:602546, RefSeq DNA:NT_010274, RefSeq Protein:NP_006002, RefSeq RNA:NM_006011, UCSC Genome Browser:NM_006011, UniProtKB:B2R9U8, UniProtKB:Q92186 No chr15 92937140 93011958 92393910 92468728 +PA37864 51046 HGNC:14269 ENSG00000177511 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 ST8SIA3 ST8Sia III SIAT8C Yes No Comparative Toxicogenomics Database:51046, Ensembl:ENSG00000177511, GenAtlas:ST8SIA3, GeneCard:ST8SIA3, HGNC:HGNC:14269, HumanCyc Gene:HS04308, HumanCyc Gene:HS11179, ModBase:O43173, NCBI Gene:51046, OMIM:609478, RefSeq DNA:NT_025028, RefSeq Protein:NP_056963, RefSeq RNA:NM_015879, UCSC Genome Browser:NM_015879, UniProtKB:O43173, UniProtKB:Q59GW3 No chr18 55019721 55036162 57352490 57368931 +PA35772 7903 HGNC:10871 ENSG00000113532 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 ST8SIA4 ST8Sia IV PST, PST1, SIAT8D Yes No Comparative Toxicogenomics Database:7903, Ensembl:ENSG00000113532, GenAtlas:ST8SIA4, GeneCard:ST8SIA4, HGNC:HGNC:10871, HumanCyc Gene:HS03691, ModBase:Q92187, NCBI Gene:7903, OMIM:602547, RefSeq DNA:NT_034772, RefSeq Protein:NP_005659, RefSeq Protein:NP_778222, RefSeq RNA:NM_005668, RefSeq RNA:NM_175052, UCSC Genome Browser:NM_005668, UniProtKB:Q8N1F4, UniProtKB:Q92187 No chr5 100142639 100238989 100806935 100903285 +PA38249 29906 HGNC:17827 ENSG00000101638 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ST8SIA5 ST8Sia V SIAT8E Yes No Comparative Toxicogenomics Database:29906, Ensembl:ENSG00000101638, GenAtlas:ST8SIA5, GeneCard:ST8SIA5, HGNC:HGNC:17827, HumanCyc Gene:HS02295, ModBase:O15466, NCBI Gene:29906, OMIM:607162, RefSeq DNA:NT_010966, RefSeq Protein:NP_037437, RefSeq RNA:NM_013305, UCSC Genome Browser:NM_013305, UniProtKB:B3KSU2, UniProtKB:O15466 No chr18 44259081 44337039 46679118 46757169 +PA134909138 338596 HGNC:23317 ENSG00000148488 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ST8SIA6 ST8Sia VI SIAT8F Yes No Comparative Toxicogenomics Database:338596, Ensembl:ENSG00000148488, GeneCard:ST8SIA6, HGNC:HGNC:23317, ModBase:P61647, NCBI Gene:338596, OMIM:610139, RefSeq DNA:NT_008705, RefSeq Protein:NP_001004470, RefSeq RNA:NM_001004470, UniProtKB:P61647 No chr10 17361282 17496408 17315414 17455966 +PA38610 23166 HGNC:18628 ENSG00000010327 stabilin 1 STAB1 """MS-1 antigen"", ""common lymphatic endothelial and vascular endothelial receptor-1"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1""" CLEVER-1, FEEL-1, FELE-1, FEX1, KIAA0246, SCARH2, STAB-1 Yes No Comparative Toxicogenomics Database:23166, Ensembl:ENSG00000010327, GenAtlas:STAB1, GeneCard:STAB1, HGNC:HGNC:18628, HumanCyc Gene:HS00284, ModBase:Q9NY15, NCBI Gene:23166, OMIM:608560, RefSeq DNA:NT_022517, RefSeq Protein:NP_055951, RefSeq RNA:NM_015136, UCSC Genome Browser:NM_015136, UniProtKB:Q9NY15 No chr3 52529354 52558512 52495338 52524496 +PA38611 55576 HGNC:18629 ENSG00000136011 stabilin 2 STAB2 hyaluronic acid receptor for endocytosis DKFZP434E0321, FEEL-2, FELL, HARE, SCARH1, STAB-2 Yes No Comparative Toxicogenomics Database:55576, Ensembl:ENSG00000136011, GenAtlas:STAB2, GeneCard:STAB2, HGNC:HGNC:18629, HumanCyc Gene:HS06101, ModBase:Q8WWQ8, NCBI Gene:55576, OMIM:608561, RefSeq DNA:NT_029419, RefSeq Protein:NP_060034, RefSeq RNA:NM_017564, UCSC Genome Browser:NM_017564, UniProtKB:Q8WWQ8 No chr12 103981069 104160502 103587250 103766724 +PA36175 6769 HGNC:11353 ENSG00000144681 SH3 and cysteine rich domain STAC STAC1 Yes No Ensembl:ENSG00000144681, GenAtlas:STAC, GeneCard:STAC, HGNC:HGNC:11353, HumanCyc Gene:HS07194, ModBase:Q99469, NCBI Gene:6769, OMIM:602317, RefSeq DNA:NT_022517, RefSeq Protein:NP_003140, RefSeq RNA:NM_003149, UCSC Genome Browser:NM_003149, UniProtKB:Q99469 No chr3 36421842 36589499 36380455 36548007 +PA134939947 342667 HGNC:23990 ENSG00000141750 SH3 and cysteine rich domain 2 STAC2 24b2 Yes No Ensembl:ENSG00000141750, GeneCard:STAC2, HGNC:HGNC:23990, ModBase:Q6ZMT1, NCBI Gene:342667, RefSeq DNA:NT_010783, RefSeq Protein:NP_945344, RefSeq RNA:NM_198993, UniProtKB:D0IN09, UniProtKB:Q6ZMT1 No chr17 37366789 37382040 39210536 39225787 +PA134877600 246329 HGNC:28423 ENSG00000185482 SH3 and cysteine rich domain 3 STAC3 MGC2793 Yes No Ensembl:ENSG00000185482, GeneCard:STAC3, HGNC:HGNC:28423, ModBase:Q96MF2, NCBI Gene:246329, RefSeq DNA:NT_029419, RefSeq Protein:NP_659501, RefSeq RNA:NM_145064, UniProtKB:Q96MF2 No chr12 57637241 57644971 57243453 57251193 +PA36176 10274 HGNC:11354 ENSG00000118007 STAG1 cohesin complex component STAG1 cohesin subunit SA-1, sister chromatid cohesion 3 homolog (S. cerevisiae) A, stromal antigen 1 SA-1, SA1, SCC3A Yes No Comparative Toxicogenomics Database:10274, Ensembl:ENSG00000118007, GenAtlas:STAG1, GeneCard:STAG1, HGNC:HGNC:11354, HumanCyc Gene:HS04185, ModBase:Q8WVM7, NCBI Gene:10274, OMIM:604358, RefSeq DNA:NT_005612, RefSeq Protein:NP_005853, RefSeq RNA:NM_005862, UCSC Genome Browser:NM_005862, UniProtKB:Q6P275, UniProtKB:Q8WVM7 No chr3 136055077 136471245 136336235 136752412 +PA36177 10735 HGNC:11355 ENSG00000101972 STAG2 cohesin complex component STAG2 Cohesin subunit SA-2, SA2 stromalin, sister chromatid cohesion 3 homolog (S. cerevisiae) B, stromal antigen 2 SA-2, SA2, SCC3B Yes No Comparative Toxicogenomics Database:10735, Ensembl:ENSG00000101972, GenAtlas:STAG2, GeneCard:STAG2, HGNC:HGNC:11355, HumanCyc Gene:HS02326, ModBase:Q8N3U4, NCBI Gene:10735, OMIM:604359, RefSeq DNA:NT_011786, RefSeq Protein:NP_001036214, RefSeq Protein:NP_001036215, RefSeq Protein:NP_001036216, RefSeq Protein:NP_006594, RefSeq RNA:NM_001042749, RefSeq RNA:NM_001042750, RefSeq RNA:NM_001042751, RefSeq RNA:NM_006603, UCSC Genome Browser:NM_006603, UniProtKB:B1AMT5, UniProtKB:Q68DE9, UniProtKB:Q6MZM3, UniProtKB:Q6MZP3, UniProtKB:Q8N3U4 No chrX 123094475 123236506 123960560 124102656 +PA36178 10734 HGNC:11356 ENSG00000066923 STAG3 cohesin complex component STAG3 Cohesin subunit SA-3, stromal antigen 3, stromalin 3 SA3 Yes No Ensembl:ENSG00000066923, GenAtlas:STAG3, GeneCard:STAG3, HGNC:HGNC:11356, HumanCyc Gene:HS00890, ModBase:Q9UJ98, NCBI Gene:10734, OMIM:608489, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_036579, RefSeq RNA:NM_012447, UCSC Genome Browser:NM_012447, UniProtKB:Q9UJ98 No chr7 99775186 99812010 100177563 100219334 +PA162404870 54441 HGNC:33852 ENSG00000205583 stromal antigen 3-like 1 STAG3L1 DKFZP434A0131 Yes No Ensembl:ENSG00000205583, GeneCard:STAG3L1, HGNC:HGNC:33852, HumanCyc Gene:HS14832, HumanCyc Gene:HS15876, HumanCyc Gene:HS16324, NCBI Gene:54441, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001002840, RefSeq Protein:NP_061864, RefSeq RNA:NM_001002840, RefSeq RNA:NM_018991, UniProtKB:Q7L1H2 No chr7 74988447 74997085 75359200 75367809 +PA162404891 442582 HGNC:33886 ENSG00000277072 stromal antigen 3-like 2 STAG3L2 MGC131759 Yes No Ensembl:ENSG00000277072, GeneCard:STAG3L2, HGNC:HGNC:33886, NCBI Gene:442582, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001020373, RefSeq RNA:NM_001025202 No chr7 74298092 74306731 74881990 74890612 +PA162404912 442578 HGNC:33845 ENSG00000174353 stromal antigen 3-like 3 STAG3L3 Yes No Ensembl:ENSG00000174353, GeneCard:STAG3L3, HGNC:HGNC:33845, NCBI Gene:442578, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001013761, RefSeq RNA:NM_001013739, UniProtKB:Q6NXR2 No chr7 72467818 72476466 72997295 73005943 +PA162404933 64940 HGNC:33887 ENSG00000106610 stromal antigen 3-like 4 STAG3L4 FLJ13195 Yes No Ensembl:ENSG00000106610, GeneCard:STAG3L4, HGNC:HGNC:33887, HumanCyc Gene:HS02929, NCBI Gene:64940, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_075057, RefSeq RNA:NM_022906, UniProtKB:Q8TBR4 No chr7 66767625 66786513 67302638 67321526 +PA36179 8027 HGNC:11357 ENSG00000136738 signal transducing adaptor molecule STAM HSE1 homolog (S. cerevisiae), signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 STAM1 Yes No Comparative Toxicogenomics Database:8027, Ensembl:ENSG00000136738, GenAtlas:STAM, GeneCard:STAM, HGNC:HGNC:11357, HumanCyc Gene:HS06207, ModBase:Q92783, NCBI Gene:8027, OMIM:601899, RefSeq DNA:NT_008705, RefSeq Protein:NP_003464, RefSeq RNA:NM_003473, RefSeq RNA:NR_037774, UCSC Genome Browser:NM_003473, UniProtKB:Q92783 No chr10 17686124 17758823 17644125 17716824 +PA36180 10254 HGNC:11358 ENSG00000115145 signal transducing adaptor molecule 2 STAM2 HSE1 homolog (S. cerevisiae), signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 Hbp Yes No Comparative Toxicogenomics Database:10254, Ensembl:ENSG00000115145, GenAtlas:STAM2, GeneCard:STAM2, HGNC:HGNC:11358, HumanCyc Gene:HS03839, ModBase:O75886, NCBI Gene:10254, OMIM:606244, RefSeq DNA:NT_005403, RefSeq Protein:NP_005834, RefSeq RNA:NM_005843, UCSC Genome Browser:NM_005843, UniProtKB:O75886 No chr2 152973315 153032506 152116801 152175992 +PA134955569 10617 HGNC:16950 ENSG00000124356 STAM binding protein STAMBP AMSH Yes No Comparative Toxicogenomics Database:10617, Ensembl:ENSG00000124356, GeneCard:STAMBP, HGNC:HGNC:16950, HumanCyc Gene:HS04762, ModBase:O95630, NCBI Gene:10617, OMIM:606247, RefSeq DNA:NT_022184, RefSeq Protein:NP_006454, RefSeq Protein:NP_964010, RefSeq Protein:NP_998787, RefSeq RNA:NM_006463, RefSeq RNA:NM_201647, RefSeq RNA:NM_213622, UniProtKB:O95630 No chr2 74056043 74100783 73828911 73873656 +PA142670864 57559 HGNC:24105 ENSG00000138134 STAM binding protein like 1 STAMBPL1 STAM binding protein-like 1, associated molecule with the SH3 domain of STAM (AMSH) - Family Protein, associated molecule with the SH3 domain of STAM (AMSH) like protein ALMalpha, AMSH-FP, AMSH-LP, FLJ31524, KIAA1373, bA399O19.2 Yes No Comparative Toxicogenomics Database:57559, Ensembl:ENSG00000138134, GeneCard:STAMBPL1, HGNC:HGNC:24105, ModBase:Q96FJ0, NCBI Gene:57559, OMIM:612352, RefSeq DNA:NT_030059, RefSeq Protein:NP_065850, RefSeq RNA:NM_020799, UniProtKB:Q96FJ0 No chr10 90639597 90735343 88879368 88923502 +PA162404948 26228 HGNC:24133 ENSG00000035720 signal transducing adaptor family member 1 STAP1 BCR downstream signaling 1 BRDG1, STAP-1 Yes No Ensembl:ENSG00000035720, GeneCard:STAP1, HGNC:HGNC:24133, HumanCyc Gene:HS00511, ModBase:Q9ULZ2, NCBI Gene:26228, OMIM:604298, RefSeq DNA:NT_022778, RefSeq Protein:NP_036240, RefSeq RNA:NM_012108, UniProtKB:Q9ULZ2 No chr4 68424415 68473059 67558697 67607341 +PA162404971 55620 HGNC:30430 ENSG00000178078 signal transducing adaptor family member 2 STAP2 BKS, STAP-2 Yes No Ensembl:ENSG00000178078, GeneCard:STAP2, HGNC:HGNC:30430, HumanCyc Gene:HS11246, ModBase:Q9UGK3, NCBI Gene:55620, OMIM:607881, RefSeq DNA:NT_011255, RefSeq Protein:NP_001013863, RefSeq Protein:NP_060190, RefSeq RNA:NM_001013841, RefSeq RNA:NM_017720, UniProtKB:Q9UGK3 No chr19 4324040 4342783 4324043 4338877 +PA36181 6770 HGNC:11359 ENSG00000147465 steroidogenic acute regulatory protein STAR StAR related lipid transfer (START) domain containing 1, StAR-related lipid transfer (START) domain containing 1 STARD1, StAR Yes No Comparative Toxicogenomics Database:6770, Ensembl:ENSG00000147465, GenAtlas:STAR, GeneCard:STAR, HGNC:HGNC:11359, HumanCyc Gene:HS07438, ModBase:P49675, NCBI Gene:6770, OMIM:201710, OMIM:600617, RefSeq DNA:NG_011827, RefSeq DNA:NT_167187, RefSeq Protein:NP_000340, RefSeq Protein:NP_001007244, RefSeq RNA:NM_000349, RefSeq RNA:NM_001007243, UCSC Genome Browser:NM_000349, UniProtKB:P49675, UniProtKB:Q6IBK0 No chr8 38000218 38008783 38141747 38151265 +PA35596 10809 HGNC:10666 ENSG00000214530 StAR related lipid transfer domain containing 10 STARD10 StAR-related lipid transfer (START) domain containing 10 CGI-52, NY-CO-28, PCTP2, SDCCAG28 Yes No Comparative Toxicogenomics Database:10809, Ensembl:ENSG00000214530, GeneCard:STARD10, HGNC:HGNC:10666, ModBase:Q9Y365, NCBI Gene:10809, RefSeq DNA:NT_167190, RefSeq Protein:NP_006636, RefSeq RNA:NM_006645, UCSC Genome Browser:NM_006645, UniProtKB:Q9Y365 No chr11 72465774 72504750 72754729 72793705 +PA38806 90627 HGNC:19164 ENSG00000133121 StAR related lipid transfer domain containing 13 STARD13 StAR-related lipid transfer (START) domain containing 13 ARHGAP37, DLC2, GT650, LINC00464 Yes No Comparative Toxicogenomics Database:90627, Ensembl:ENSG00000133121, GenAtlas:STARD13, GeneCard:STARD13, HGNC:HGNC:19164, HumanCyc Gene:HS05741, ModBase:Q86XT1, NCBI Gene:90627, OMIM:609866, RefSeq DNA:NT_024524, RefSeq Protein:NP_443083, RefSeq Protein:NP_821074, RefSeq Protein:NP_821075, RefSeq RNA:NM_052851, RefSeq RNA:NM_178006, RefSeq RNA:NM_178007, UCSC Genome Browser:NM_052851, UniProtKB:B2R789, UniProtKB:Q9Y3M8 No chr13 33677272 34250932 33103135 33676835 +PA134981867 10948 HGNC:17579 ENSG00000131748 StAR related lipid transfer domain containing 3 STARD3 StAR-related lipid transfer (START) domain containing 3 MLN64, es64 Yes No Comparative Toxicogenomics Database:10948, Ensembl:ENSG00000131748, GeneCard:STARD3, HGNC:HGNC:17579, HumanCyc Gene:HS05561, ModBase:Q14849, NCBI Gene:10948, OMIM:607048, RefSeq DNA:NT_010783, RefSeq Protein:NP_001159409, RefSeq Protein:NP_001159410, RefSeq Protein:NP_006795, RefSeq RNA:NM_001165937, RefSeq RNA:NM_001165938, RefSeq RNA:NM_006804, UniProtKB:A8MXA4, UniProtKB:Q14849 No chr17 37793333 37820454 39637080 39664201 +PA134990065 83930 HGNC:19169 ENSG00000010270 STARD3 N-terminal like STARD3NL MENTHO, MGC3251 Yes No Ensembl:ENSG00000010270, GeneCard:STARD3NL, HGNC:HGNC:19169, HumanCyc Gene:HS00278, ModBase:O95772, NCBI Gene:83930, OMIM:611759, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_114405, RefSeq RNA:NM_032016, UniProtKB:A4D1X0, UniProtKB:O95772 No chr7 38217808 38270272 38178206 38230671 +PA38284 134429 HGNC:18058 ENSG00000164211 StAR related lipid transfer domain containing 4 STARD4 StAR-related lipid transfer (START) domain containing 4 Yes No Ensembl:ENSG00000164211, GenAtlas:STARD4, GeneCard:STARD4, HGNC:HGNC:18058, HumanCyc Gene:HS09039, ModBase:Q96DR4, NCBI Gene:134429, OMIM:607049, RefSeq DNA:NT_034772, RefSeq Protein:NP_631903, RefSeq RNA:NM_139164, UCSC Genome Browser:NM_139164, UniProtKB:Q96DR4 No chr5 110831731 110848234 111496033 111512597 +PA38286 80765 HGNC:18065 ENSG00000172345 StAR related lipid transfer domain containing 5 STARD5 StAR-related lipid transfer (START) domain containing 5 MGC10327 Yes No Ensembl:ENSG00000172345, GenAtlas:STARD5, GeneCard:STARD5, HGNC:HGNC:18065, HumanCyc Gene:HS10494, ModBase:Q9NSY2, NCBI Gene:80765, OMIM:607050, RefSeq DNA:NT_010194, RefSeq Protein:NP_871629, RefSeq RNA:NM_181900, UCSC Genome Browser:NM_030574, UniProtKB:Q9NSY2 No chr15 81605007 81616524 81312666 81324183 +PA38287 147323 HGNC:18066 ENSG00000174448 StAR related lipid transfer domain containing 6 STARD6 StAR-related lipid transfer (START) domain containing 6 Yes No Ensembl:ENSG00000174448, GenAtlas:STARD6, GeneCard:STARD6, HGNC:HGNC:18066, HumanCyc Gene:HS10800, ModBase:P59095, NCBI Gene:147323, OMIM:607051, RefSeq DNA:NT_010966, RefSeq Protein:NP_631910, RefSeq RNA:NM_139171, UCSC Genome Browser:NM_139171, UniProtKB:P59095 No chr18 51851062 51880943 54324592 54357890 +PA38285 56910 HGNC:18063 ENSG00000084090 StAR related lipid transfer domain containing 7 STARD7 StAR-related lipid transfer (START) domain containing 7 GTT1 Yes No Comparative Toxicogenomics Database:56910, Ensembl:ENSG00000084090, GenAtlas:STARD7, GeneCard:STARD7, HGNC:HGNC:18063, HumanCyc Gene:HS12281, ModBase:Q9NQZ5, NCBI Gene:56910, RefSeq DNA:NT_022171, RefSeq Protein:NP_064536, RefSeq RNA:NM_020151, UCSC Genome Browser:NM_020151, UniProtKB:Q9NQZ5 No chr2 96850597 96874573 96184859 96208846 +PA38804 9754 HGNC:19161 ENSG00000130052 StAR related lipid transfer domain containing 8 STARD8 StAR-related lipid transfer (START) domain containing 8 ARHGAP38, KIAA0189 Yes No Comparative Toxicogenomics Database:9754, Ensembl:ENSG00000130052, GenAtlas:STARD8, GeneCard:STARD8, HGNC:HGNC:19161, HumanCyc Gene:HS05336, ModBase:Q92502, NCBI Gene:9754, OMIM:300689, RefSeq DNA:NG_016856, RefSeq DNA:NT_011669, RefSeq Protein:NP_001135975, RefSeq Protein:NP_001135976, RefSeq Protein:NP_055540, RefSeq RNA:NM_001142503, RefSeq RNA:NM_001142504, RefSeq RNA:NM_014725, UCSC Genome Browser:NM_014725, UniProtKB:Q92502 No chrX 67867511 67945684 68647669 68725842 +PA38805 57519 HGNC:19162 ENSG00000159433 StAR related lipid transfer domain containing 9 STARD9 StAR-related lipid transfer (START) domain containing 9 KIAA1300, KIF16A Yes No Ensembl:ENSG00000159433, GenAtlas:STARD9, GeneCard:STARD9, HGNC:HGNC:19162, HumanCyc Gene:HS14758, NCBI Gene:57519, RefSeq DNA:NT_010194, RefSeq Protein:NP_065810, RefSeq Protein:XP_001129290, RefSeq Protein:XP_001129482, RefSeq Protein:XP_001717557, RefSeq RNA:NM_020759, RefSeq RNA:XM_001129290, RefSeq RNA:XM_001129482, RefSeq RNA:XM_001717505 No chr15 42867857 43013196 42575646 42720998 +PA36182 6771 HGNC:11360 ENSG00000214266 steroidogenic acute regulatory protein pseudogene 1 STARP1 STARD1P1 Yes No Ensembl:ENSG00000214266, GenAtlas:STARP1, GeneCard:STARP1, HGNC:HGNC:11360, NCBI Gene:6771, RefSeq DNA:NG_002464, RefSeq DNA:NT_024524 No chr13 65854187 65885295 65280055 65311163 +PA36183 6772 HGNC:11362 ENSG00000115415 signal transducer and activator of transcription 1 STAT1 """signal transducer and activator of transcription 1, 91kDa"", ""transcription factor ISGF-3 components p91/p84""" ISGF-3, STAT91 Yes No Comparative Toxicogenomics Database:6772, Ensembl:ENSG00000115415, GenAtlas:STAT1, GeneCard:STAT1, HGNC:HGNC:11362, HumanCyc Gene:HS03885, ModBase:P42224, NCBI Gene:6772, OMIM:209950, OMIM:600555, RefSeq DNA:NG_008294, RefSeq DNA:NT_005403, RefSeq Protein:NP_009330, RefSeq Protein:NP_644671, RefSeq RNA:NM_007315, RefSeq RNA:NM_139266, UCSC Genome Browser:NM_007315, UniProtKB:P42224 No chr2 191833762 191878976 190969036 191014250 +PA36184 6773 HGNC:11363 ENSG00000170581 signal transducer and activator of transcription 2 STAT2 signal transducer and activator of transcription 2, 113kDa STAT113 Yes No Comparative Toxicogenomics Database:6773, Ensembl:ENSG00000170581, GenAtlas:STAT2, GeneCard:STAT2, HGNC:HGNC:11363, HumanCyc Gene:HS10152, ModBase:P52630, NCBI Gene:6773, OMIM:600556, RefSeq DNA:NT_029419, RefSeq Protein:NP_005410, RefSeq Protein:NP_938146, RefSeq RNA:NM_005419, RefSeq RNA:NM_198332, UCSC Genome Browser:NM_005419, UniProtKB:B4DLC7, UniProtKB:P52630 No chr12 56735381 56754058 56341597 56360253 +PA337 6774 HGNC:11364 ENSG00000168610 signal transducer and activator of transcription 3 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) APRF Yes Yes Comparative Toxicogenomics Database:6774, Ensembl:ENSG00000168610, GenAtlas:STAT3, GeneCard:STAT3, HGNC:HGNC:11364, HumanCyc Gene:HS09792, ModBase:P40763, NCBI Gene:6774, OMIM:102582, OMIM:147060, RefSeq DNA:NG_007370, RefSeq DNA:NT_010783, RefSeq Protein:NP_003141, RefSeq Protein:NP_644805, RefSeq Protein:NP_998827, RefSeq RNA:NM_003150, RefSeq RNA:NM_139276, RefSeq RNA:NM_213662, UCSC Genome Browser:NM_003150, UniProtKB:P40763 No chr17 40465342 40540586 42313324 42388505 +PA36185 6775 HGNC:11365 ENSG00000138378 signal transducer and activator of transcription 4 STAT4 Yes Yes Comparative Toxicogenomics Database:6775, Ensembl:ENSG00000138378, GenAtlas:STAT4, GeneCard:STAT4, HGNC:HGNC:11365, HumanCyc Gene:HS06493, ModBase:Q14765, NCBI Gene:6775, OMIM:152700, OMIM:180300, OMIM:600558, OMIM:612253, RefSeq DNA:NG_012852, RefSeq DNA:NT_005403, RefSeq Protein:NP_003142, RefSeq RNA:NM_003151, UCSC Genome Browser:NM_003151, UniProtKB:Q14765 No chr2 191894302 192037404 191029576 191172684 +PA338 6776 HGNC:11366 ENSG00000126561 signal transducer and activator of transcription 5A STAT5A MGF, STAT5 Yes No Comparative Toxicogenomics Database:6776, Ensembl:ENSG00000126561, GenAtlas:STAT5A, GeneCard:STAT5A, HGNC:HGNC:11366, HumanCyc Gene:HS05032, ModBase:P42229, NCBI Gene:6776, OMIM:601511, RefSeq DNA:NT_010783, RefSeq Protein:NP_003143, RefSeq RNA:NM_003152, UCSC Genome Browser:NM_003152, UniProtKB:A8K6I5, UniProtKB:P42229 No chr17 40439565 40463961 42287547 42311943 +PA36186 6777 HGNC:11367 ENSG00000173757 signal transducer and activator of transcription 5B STAT5B Yes No Comparative Toxicogenomics Database:6777, Ensembl:ENSG00000173757, GenAtlas:STAT5B, GeneCard:STAT5B, HGNC:HGNC:11367, HumanCyc Gene:HS10722, ModBase:P51692, NCBI Gene:6777, OMIM:245590, OMIM:604260, RefSeq DNA:NG_007271, RefSeq DNA:NT_010783, RefSeq Protein:NP_036580, RefSeq RNA:NM_012448, UCSC Genome Browser:NM_012448, UniProtKB:P51692 No chr17 40351195 40428478 42199177 42276460 +PA339 6778 HGNC:11368 ENSG00000166888 signal transducer and activator of transcription 6 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced D12S1644, IL-4-STAT Yes Yes Comparative Toxicogenomics Database:6778, Ensembl:ENSG00000166888, GenAtlas:STAT6, GeneCard:STAT6, HGNC:HGNC:11368, HumanCyc Gene:HS09474, ModBase:P42226, NCBI Gene:6778, OMIM:601512, RefSeq DNA:NG_021272, RefSeq DNA:NT_029419, RefSeq Protein:NP_001171549, RefSeq Protein:NP_001171550, RefSeq Protein:NP_001171551, RefSeq Protein:NP_001171552, RefSeq Protein:NP_003144, RefSeq RNA:NM_001178078, RefSeq RNA:NM_001178079, RefSeq RNA:NM_001178080, RefSeq RNA:NM_001178081, RefSeq RNA:NM_003153, RefSeq RNA:NR_033659, UCSC Genome Browser:NM_003153, UniProtKB:P42226 No chr12 57489187 57505196 57095404 57111433 +PA36187 6779 HGNC:11369 ENSG00000126549 statherin STATH STR Yes No Comparative Toxicogenomics Database:6779, Ensembl:ENSG00000126549, GenAtlas:STATH, GeneCard:STATH, HGNC:HGNC:11369, HumanCyc Gene:HS05030, NCBI Gene:6779, OMIM:184470, RefSeq DNA:NT_022778, RefSeq Protein:NP_001009181, RefSeq Protein:NP_003145, RefSeq RNA:NM_001009181, RefSeq RNA:NM_003154, UCSC Genome Browser:NM_003154, UniProtKB:A6NKE9, UniProtKB:P02808 No chr4 70861648 70868173 69995931 70002456 +PA36188 6780 HGNC:11370 ENSG00000124214 staufen double-stranded RNA binding protein 1 STAU1 """protein phosphatase 1, regulatory subunit 150"", ""staufen, RNA binding protein, homolog 1 (Drosophila)""" PPP1R150, STAU Yes No Ensembl:ENSG00000124214, GenAtlas:STAU1, GeneCard:STAU1, HGNC:HGNC:11370, HumanCyc Gene:HS04739, ModBase:O95793, NCBI Gene:6780, OMIM:601716, RefSeq DNA:NT_011362, RefSeq Protein:NP_001032405, RefSeq Protein:NP_004593, RefSeq Protein:NP_059346, RefSeq Protein:NP_059347, RefSeq Protein:NP_059348, RefSeq RNA:NM_001037328, RefSeq RNA:NM_004602, RefSeq RNA:NM_017452, RefSeq RNA:NM_017453, RefSeq RNA:NM_017454, UCSC Genome Browser:NM_004602, UniProtKB:B3KRE0, UniProtKB:O95793, UniProtKB:Q5JW29, UniProtKB:Q6PJX3 No chr20 47729876 47804907 49113339 49219295 +PA36189 27067 HGNC:11371 ENSG00000040341 staufen double-stranded RNA binding protein 2 STAU2 staufen, RNA binding protein, homolog 2 (Drosophila) 39K2 Yes No Ensembl:ENSG00000040341, GenAtlas:STAU2, GeneCard:STAU2, HGNC:HGNC:11371, HumanCyc Gene:HS00547, ModBase:Q9NUL3, NCBI Gene:27067, OMIM:605920, RefSeq DNA:NT_008183, RefSeq Protein:NP_001157852, RefSeq Protein:NP_001157853, RefSeq Protein:NP_001157854, RefSeq Protein:NP_001157855, RefSeq Protein:NP_001157856, RefSeq Protein:NP_001157857, RefSeq Protein:NP_055208, RefSeq RNA:NM_001164380, RefSeq RNA:NM_001164381, RefSeq RNA:NM_001164382, RefSeq RNA:NM_001164383, RefSeq RNA:NM_001164384, RefSeq RNA:NM_001164385, RefSeq RNA:NM_014393, UCSC Genome Browser:NM_014393, UniProtKB:A8K276, UniProtKB:B7Z1I6, UniProtKB:B7Z292, UniProtKB:Q4LE57, UniProtKB:Q9NUL3 No chr8 74332604 74659943 73420369 73747708 +PA162405002 8987 HGNC:24854 ENSG00000118804 starch binding domain 1 STBD1 genethonin 1 FLJ41801, GENX-3414 Yes No Ensembl:ENSG00000118804, GeneCard:STBD1, HGNC:HGNC:24854, HumanCyc Gene:HS04251, ModBase:O95210, NCBI Gene:8987, OMIM:607406, RefSeq DNA:NT_016354, RefSeq Protein:NP_003934, RefSeq RNA:NM_003943, UniProtKB:O95210 No chr4 77227179 77232283 76306026 76311130 +PA36190 6781 HGNC:11373 ENSG00000159167 stanniocalcin 1 STC1 STC Yes No Comparative Toxicogenomics Database:6781, Ensembl:ENSG00000159167, GenAtlas:STC1, GeneCard:STC1, HGNC:HGNC:11373, HumanCyc Gene:HS08363, ModBase:P52823, NCBI Gene:6781, OMIM:601185, RefSeq DNA:NT_167187, RefSeq Protein:NP_003146, RefSeq RNA:NM_003155, UCSC Genome Browser:NM_003155, UniProtKB:P52823 No chr8 23699434 23712320 23841921 23854807 +PA36191 8614 HGNC:11374 ENSG00000113739 stanniocalcin 2 STC2 STC-2 Yes No Comparative Toxicogenomics Database:8614, Ensembl:ENSG00000113739, GenAtlas:STC2, GeneCard:STC2, HGNC:HGNC:11374, HumanCyc Gene:HS03714, ModBase:O76061, NCBI Gene:8614, OMIM:603665, RefSeq DNA:NT_023133, RefSeq Protein:NP_003705, RefSeq RNA:NM_003714, UCSC Genome Browser:NM_003714, UniProtKB:O76061, UniProtKB:Q6FHC9 No chr5 172741726 172756506 173314723 173329503 +PA36193 26872 HGNC:11378 ENSG00000164647 STEAP family member 1 STEAP1 six transmembrane epithelial antigen of the prostate 1 PRSS24, STEAP Yes No Comparative Toxicogenomics Database:26872, Ensembl:ENSG00000164647, GenAtlas:STEAP1, GeneCard:STEAP1, HGNC:HGNC:11378, HumanCyc Gene:HS09113, ModBase:Q9UHE8, NCBI Gene:26872, OMIM:604415, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_036581, RefSeq RNA:NM_012449, UCSC Genome Browser:NM_012449, UniProtKB:Q9UHE8 No chr7 89783689 89794141 90154375 90164827 +PA166049073 256227 HGNC:41907 ENSG00000105889 STEAP family member 1B STEAP1B Yes No Ensembl:ENSG00000105889, HGNC:HGNC:41907, NCBI Gene:256227 No chr7 22459063 22539901 22419444 22500282 +PA38473 261729 HGNC:17885 ENSG00000157214 STEAP2 metalloreductase STEAP2 STEAP family member 2, metalloreductase IPCA-1, PCANAP1, STAMP1, STMP Yes No Comparative Toxicogenomics Database:261729, Ensembl:ENSG00000157214, GenAtlas:STEAP2, GeneCard:STEAP2, HGNC:HGNC:17885, HumanCyc Gene:HS08191, ModBase:Q8NFT2, NCBI Gene:261729, OMIM:605094, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001035755, RefSeq Protein:NP_001035756, RefSeq Protein:NP_694544, RefSeq RNA:NM_001040665, RefSeq RNA:NM_001040666, RefSeq RNA:NM_152999, UCSC Genome Browser:NM_152999, UniProtKB:B3KS24, UniProtKB:Q6YPB1, UniProtKB:Q6YPB2, UniProtKB:Q8NFT2 No chr7 89841000 89866992 90211686 90243408 +PA142670863 55240 HGNC:24592 ENSG00000115107 STEAP3 metalloreductase STEAP3 """STEAP family member 3, metalloreductase"", ""ferrireductase""" STMP3, TSAP6, dudlin-2 Yes No Comparative Toxicogenomics Database:55240, Ensembl:ENSG00000115107, GeneCard:STEAP3, HGNC:HGNC:24592, HumanCyc Gene:HS03832, ModBase:Q8TF03, NCBI Gene:55240, OMIM:609671, RefSeq DNA:NT_022135, RefSeq Protein:NP_001008410, RefSeq Protein:NP_060704, RefSeq Protein:NP_878919, RefSeq RNA:NM_001008410, RefSeq RNA:NM_018234, RefSeq RNA:NM_182915, UniProtKB:Q658P3 No chr2 119981384 120023228 119222476 119265652 +PA134874572 79689 HGNC:21923 ENSG00000127954 STEAP4 metalloreductase STEAP4 STEAP family member 4, seven chromosome locus associated with HCC FLJ23153, STAMP2, SchLAH, TIARP, TNFAIP9 Yes No Comparative Toxicogenomics Database:79689, Ensembl:ENSG00000127954, GeneCard:STEAP4, HGNC:HGNC:21923, HumanCyc Gene:HS05143, ModBase:Q687X5, NCBI Gene:79689, OMIM:611098, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001192244, RefSeq Protein:NP_001192245, RefSeq Protein:NP_078912, RefSeq RNA:NM_001205315, RefSeq RNA:NM_001205316, RefSeq RNA:NM_024636, UniProtKB:Q687X5 No chr7 87905744 87936228 88276429 88306913 +PA166352199 63932 HGNC:26239 STING1 ER exit protein 1 STEEP1 CXorf56 FLJ22965 Yes No HGNC:HGNC:26239, NCBI Gene:63932 No 0 0 0 0 +PA162405011 246744 HGNC:18839 ENSG00000256762 saitohin STH microtubule-associated protein tau (MAPT) intronic transcript MAPTIT Yes No Ensembl:ENSG00000256762, GeneCard:STH, HGNC:HGNC:18839, NCBI Gene:246744, OMIM:607067, RefSeq DNA:NT_010783, RefSeq DNA:NT_167251, RefSeq Protein:NP_001007533, RefSeq RNA:NM_001007532, UniProtKB:Q8IWL8 No chr17 44076616 44077060 45999250 45999694 +PA35780 6491 HGNC:10879 ENSG00000123473 STIL centriolar assembly protein STIL """SCL/TAL1 interrupting locus"", ""STIL, centriolar assembly protein""" MCPH7, SIL Yes No Comparative Toxicogenomics Database:6491, Ensembl:ENSG00000123473, GenAtlas:STIL, GeneCard:STIL, HGNC:HGNC:10879, HumanCyc Gene:HS04664, ModBase:Q15468, NCBI Gene:6491, OMIM:181590, OMIM:612703, RefSeq DNA:NG_012126, RefSeq DNA:NT_032977, RefSeq Protein:NP_001041631, RefSeq Protein:NP_003026, RefSeq RNA:NM_001048166, RefSeq RNA:NM_003035, UCSC Genome Browser:NM_003035, UniProtKB:Q15468 No chr1 47715811 47779819 47250139 47314787 +PA36195 6786 HGNC:11386 ENSG00000167323 stromal interaction molecule 1 STIM1 D11S4896E, GOK Yes Yes Comparative Toxicogenomics Database:6786, Ensembl:ENSG00000167323, GenAtlas:STIM1, GeneCard:STIM1, HGNC:HGNC:11386, HumanCyc Gene:HS09540, ModBase:Q13586, NCBI Gene:6786, OMIM:605921, OMIM:612783, RefSeq DNA:NG_016277, RefSeq DNA:NT_009237, RefSeq Protein:NP_003147, RefSeq RNA:NM_003156, UCSC Genome Browser:NM_003156, UniProtKB:Q13586 No chr11 3876933 4114440 3855703 4093210 +PA134926985 57620 HGNC:19205 ENSG00000109689 stromal interaction molecule 2 STIM2 Yes No Comparative Toxicogenomics Database:57620, Ensembl:ENSG00000109689, GeneCard:STIM2, HGNC:HGNC:19205, HumanCyc Gene:HS03250, ModBase:Q9P246, NCBI Gene:57620, OMIM:610841, RefSeq DNA:NT_006316, RefSeq Protein:NP_001162588, RefSeq Protein:NP_001162589, RefSeq Protein:NP_065911, RefSeq RNA:NM_001169117, RefSeq RNA:NM_001169118, RefSeq RNA:NM_020860, UniProtKB:A6H8L7, UniProtKB:B3KUB5, UniProtKB:Q9P246 No chr4 26859329 27027003 26860691 27025381 +PA142670761 375346 HGNC:30526 ENSG00000213533 STIM activating enhancer STIMATE transmembrane protein 110 MGC52022, TMEM110 Yes No Comparative Toxicogenomics Database:375346, Ensembl:ENSG00000213533, GeneCard:TMEM110, HGNC:HGNC:30526, ModBase:Q86TL2, NCBI Gene:375346, RefSeq DNA:NT_022517, RefSeq Protein:NP_940965, RefSeq RNA:NM_198563, UniProtKB:Q86TL2 No chr3 52870772 52931597 52836756 52897581 +PA166352200 340061 HGNC:27962 stimulator of interferon response cGAMP interactor 1 STING1 TMEM173, endoplasmic reticulum IFN stimulator, stimulator of interferon genes ERIS, FLJ38577, MITA, MPYS, NET23, STING Yes No HGNC:HGNC:27962, NCBI Gene:340061 No 0 0 0 0 +PA36196 10963 HGNC:11387 ENSG00000168439 stress induced phosphoprotein 1 STIP1 Hsp70/Hsp90-organizing protein, stress-induced phosphoprotein 1, stress-induced-phosphoprotein 1 HOP, STI1 Yes Yes Comparative Toxicogenomics Database:10963, Ensembl:ENSG00000168439, GenAtlas:STIP1, GeneCard:STIP1, HGNC:HGNC:11387, HumanCyc Gene:HS09759, ModBase:P31948, NCBI Gene:10963, OMIM:605063, RefSeq DNA:NT_167190, RefSeq Protein:NP_006810, RefSeq RNA:NM_006819, UCSC Genome Browser:NM_006819, UniProtKB:P31948 No chr11 63952206 63972020 64185272 64204548 +PA36197 6793 HGNC:11388 ENSG00000072786 serine/threonine kinase 10 STK10 lymphocyte-oriented kinase LOK, PRO2729 Yes No Comparative Toxicogenomics Database:6793, Ensembl:ENSG00000072786, GenAtlas:STK10, GeneCard:STK10, HGNC:HGNC:11388, HumanCyc Gene:HS01082, ModBase:O94804, NCBI Gene:6793, OMIM:603919, RefSeq DNA:NT_023133, RefSeq Protein:NP_005981, RefSeq RNA:NM_005990, UCSC Genome Browser:NM_005990, UniProtKB:O94804 No chr5 171469074 171615346 172042070 172188342 +PA36198 6794 HGNC:11389 ENSG00000118046 serine/threonine kinase 11 STK11 polarization-related protein LKB1 LKB1, PJS Yes Yes Comparative Toxicogenomics Database:6794, Ensembl:ENSG00000118046, GenAtlas:STK11, GeneCard:STK11, HGNC:HGNC:11389, HumanCyc Gene:HS04187, ModBase:Q15831, NCBI Gene:6794, OMIM:175200, OMIM:273300, OMIM:602216, RefSeq DNA:NG_007460, RefSeq DNA:NT_011255, RefSeq Protein:NP_000446, RefSeq RNA:NM_000455, UCSC Genome Browser:NM_000455, UniProtKB:Q15831 No chr19 1205798 1228434 1205799 1228435 +PA38822 114790 HGNC:19184 ENSG00000144589 serine/threonine kinase 11 interacting protein STK11IP LKB1 interacting protein KIAA1898, LIP1, LKB1IP, STK11IP1 Yes No Comparative Toxicogenomics Database:114790, Ensembl:ENSG00000144589, GenAtlas:STK11IP, GeneCard:STK11IP, HGNC:HGNC:19184, HumanCyc Gene:HS14038, NCBI Gene:114790, OMIM:607172, RefSeq DNA:NT_005403, RefSeq Protein:NP_443134, RefSeq RNA:NM_052902, UCSC Genome Browser:NM_052902, UniProtKB:Q8N1F8 No chr2 220462593 220481173 219597851 219616451 +PA36202 8576 HGNC:11394 ENSG00000115661 serine/threonine kinase 16 STK16 MPSK, PKL12 Yes No Comparative Toxicogenomics Database:8576, Ensembl:ENSG00000115661, GenAtlas:STK16, GeneCard:STK16, HGNC:HGNC:11394, HumanCyc Gene:HS03924, ModBase:O75716, NCBI Gene:8576, OMIM:604719, RefSeq DNA:NT_005403, RefSeq Protein:NP_001008910, RefSeq RNA:NM_001008910, RefSeq RNA:NR_026909, UCSC Genome Browser:NM_003691, UniProtKB:O75716 No chr2 220110192 220115059 219245469 219250337 +PA134883204 326107 HGNC:19283 ENSG00000259155 serine/threonine kinase 16 pseudogene 1 STK16P1 Yes No Ensembl:ENSG00000259155, HGNC:HGNC:19283, NCBI Gene:326107, RefSeq DNA:NG_002530, RefSeq DNA:NT_026437 No chr14 50143386 50145229 49676668 49678511 +PA36203 9263 HGNC:11395 ENSG00000164543 serine/threonine kinase 17a STK17A death-associated protein kinase-related 1 DRAK1 Yes No Comparative Toxicogenomics Database:9263, Ensembl:ENSG00000164543, GenAtlas:STK17A, GeneCard:STK17A, HGNC:HGNC:11395, HumanCyc Gene:HS09094, ModBase:Q9UEE5, NCBI Gene:9263, OMIM:604726, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_004751, RefSeq RNA:NM_004760, UCSC Genome Browser:NM_004760, UniProtKB:Q9UEE5 No chr7 43622692 43666978 43583093 43627379 +PA36204 9262 HGNC:11396 ENSG00000081320 serine/threonine kinase 17b STK17B death-associated protein kinase-related 2 DRAK2 Yes No Comparative Toxicogenomics Database:9262, Ensembl:ENSG00000081320, GenAtlas:STK17B, GeneCard:STK17B, HGNC:HGNC:11396, HumanCyc Gene:HS01394, ModBase:O94768, NCBI Gene:9262, OMIM:604727, RefSeq DNA:NT_005403, RefSeq Protein:NP_004217, RefSeq RNA:NM_004226, UCSC Genome Browser:NM_004226, UniProtKB:O94768, UniProtKB:Q53QE7 No chr2 196998307 197036336 196133583 196176503 +PA36206 8859 HGNC:11398 ENSG00000204344, ENSG00000226033, ENSG00000226257, ENSG00000234947, ENSG00000236250 serine/threonine kinase 19 STK19 D6S60, G11, RP1 Yes No Comparative Toxicogenomics Database:8859, Ensembl:ENSG00000204344, Ensembl:ENSG00000226033, Ensembl:ENSG00000226257, Ensembl:ENSG00000234947, Ensembl:ENSG00000236250, GenAtlas:STK19, GeneCard:STK19, HGNC:HGNC:11398, HumanCyc Gene:HS09371, ModBase:P49842, NCBI Gene:8859, OMIM:604977, RefSeq DNA:NG_000013, RefSeq DNA:NG_004658, RefSeq DNA:NG_005163, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_004188, RefSeq Protein:NP_115830, RefSeq RNA:NM_004197, RefSeq RNA:NM_032454, RefSeq RNA:NR_026717, UCSC Genome Browser:NM_004197, UniProtKB:P49842 No chr6 31938952 31949223 31971175 31981446 +PA36210 8428 HGNC:11403 ENSG00000102572 serine/threonine kinase 24 STK24 STE20-like kinase 3, sterile 20-like kinase 3 MST-3, MST3, MST3B, STE20, STK3 Yes Yes Comparative Toxicogenomics Database:8428, Ensembl:ENSG00000102572, GenAtlas:STK24, GeneCard:STK24, HGNC:HGNC:11403, HumanCyc Gene:HS02397, ModBase:Q9Y6E0, NCBI Gene:8428, OMIM:604984, RefSeq DNA:NT_009952, RefSeq Protein:NP_001027467, RefSeq Protein:NP_003567, RefSeq RNA:NM_001032296, RefSeq RNA:NM_003576, UCSC Genome Browser:NM_003576, UniProtKB:Q5U0E6, UniProtKB:Q6P0Y1, UniProtKB:Q9Y6E0 No chr13 99102455 99229396 98450199 98577151 +PA36211 10494 HGNC:11404 ENSG00000115694 serine/threonine kinase 25 STK25 SOK1, YSK1 Yes No Comparative Toxicogenomics Database:10494, Ensembl:ENSG00000115694, GenAtlas:STK25, GeneCard:STK25, HGNC:HGNC:11404, HumanCyc Gene:HS03929, ModBase:O00506, NCBI Gene:10494, OMIM:602255, RefSeq DNA:NT_005416, RefSeq Protein:NP_006365, RefSeq RNA:NM_006374, UCSC Genome Browser:NM_006374, UniProtKB:O00506 No chr2 242434122 242449145 241494707 241509730 +PA166123740 51765 HGNC:18174 ENSG00000134602 serine/threonine kinase 26 STK26 STE20-like kinase 4, serine/threonine protein kinase 26 MASK, MST4 Yes No Ensembl:ENSG00000134602, HGNC:HGNC:18174, NCBI Gene:51765 No +PA36213 6788 HGNC:11406 ENSG00000104375 serine/threonine kinase 3 STK3 hippo (Drosophila) homolog KRS1, MST2 Yes No Comparative Toxicogenomics Database:6788, Ensembl:ENSG00000104375, GenAtlas:STK3, GeneCard:STK3, HGNC:HGNC:11406, HumanCyc Gene:HS02575, ModBase:Q13188, NCBI Gene:6788, OMIM:605030, RefSeq DNA:NT_008046, RefSeq Protein:NP_006272, RefSeq RNA:NM_006281, UCSC Genome Browser:NM_006281, UniProtKB:Q13188 No chr8 99466859 99954799 98429677 98944329 +PA36214 56164 HGNC:11407 ENSG00000196335 serine/threonine kinase 31 STK31 SgK396, TDRD8 Yes No Ensembl:ENSG00000196335, GenAtlas:STK31, GeneCard:STK31, HGNC:HGNC:11407, HumanCyc Gene:HS06139, ModBase:Q9BXU1, NCBI Gene:56164, OMIM:605790, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001116305, RefSeq Protein:NP_113602, RefSeq Protein:NP_116562, RefSeq RNA:NM_001122833, RefSeq RNA:NM_031414, RefSeq RNA:NM_032944, UCSC Genome Browser:NM_031414, UniProtKB:Q9BXU1 No chr7 23749786 23872132 23710141 23832513 +PA134932545 202374 HGNC:28317 ENSG00000169302 serine/threonine kinase 32A STK32A MGC22688, YANK1 Yes No Ensembl:ENSG00000169302, GeneCard:STK32A, HGNC:HGNC:28317, HumanCyc Gene:HS09925, NCBI Gene:202374, RefSeq DNA:NT_029289, RefSeq Protein:NP_001106195, RefSeq Protein:NP_659438, RefSeq RNA:NM_001112724, RefSeq RNA:NM_145001, UniProtKB:Q8WU08 No chr5 146614526 146767418 147234963 147401996 +PA128394683 55351 HGNC:14217 ENSG00000152953 serine/threonine kinase 32B STK32B HSA250839, STK32, STKG6, YANK2 Yes No Ensembl:ENSG00000152953, GeneCard:STK32B, HGNC:HGNC:14217, HumanCyc Gene:HS07867, ModBase:Q9NY57, NCBI Gene:55351, RefSeq DNA:NT_006051, RefSeq Protein:NP_060871, RefSeq RNA:NM_018401, UCSC Genome Browser:NM_018401, UniProtKB:Q9NY57 No chr4 5053527 5502728 5051323 5501001 +PA134888050 282974 HGNC:21332 ENSG00000165752 serine/threonine kinase 32C STK32C MGC23665, PKE, YANK3 Yes No Comparative Toxicogenomics Database:282974, Ensembl:ENSG00000165752, GeneCard:STK32C, HGNC:HGNC:21332, HumanCyc Gene:HS09280, ModBase:Q86UX6, NCBI Gene:282974, RefSeq DNA:NT_008818, RefSeq Protein:NP_775846, RefSeq RNA:NM_173575, UniProtKB:Q86UX6 No chr10 133996038 134145377 132207482 132332559 +PA37900 65975 HGNC:14568 ENSG00000130413 serine/threonine kinase 33 STK33 Yes No Ensembl:ENSG00000130413, GenAtlas:STK33, GeneCard:STK33, HGNC:HGNC:14568, HumanCyc Gene:HS05384, ModBase:Q9BYT3, NCBI Gene:65975, OMIM:607670, RefSeq DNA:NT_009237, RefSeq Protein:NP_112168, RefSeq RNA:NM_030906, UCSC Genome Browser:NM_030906, UniProtKB:Q9BYT3 No chr11 8413417 8615836 8335029 8594289 +PA142670862 553118 HGNC:26871 ENSG00000227412 serine/threonine kinase 33 pseudogene 1 STK33P1 STK33ps Yes No Ensembl:ENSG00000227412, HGNC:HGNC:26871, NCBI Gene:553118, RefSeq DNA:NG_009480 No chr9 88107494 88109009 85492579 85494094 +PA38097 140901 HGNC:16254 ENSG00000125834 serine/threonine kinase 35 STK35 CLP-36 interacting kinase CLIK1, bA550O8.2 Yes No Ensembl:ENSG00000125834, GenAtlas:STK35, GeneCard:STK35, HGNC:HGNC:16254, HumanCyc Gene:HS13179, ModBase:Q8TDR2, NCBI Gene:140901, OMIM:609370, RefSeq DNA:NT_011387, RefSeq Protein:NP_543026, RefSeq RNA:NM_080836, UCSC Genome Browser:NM_080836, UniProtKB:Q8TDR2 No chr20 2082528 2129201 2098035 2148555 +PA38212 27148 HGNC:17209 ENSG00000163482 serine/threonine kinase 36 STK36 fused homolog (Drosophila) FU, KIAA1278 Yes No Comparative Toxicogenomics Database:27148, Ensembl:ENSG00000163482, GenAtlas:STK36, GeneCard:STK36, HGNC:HGNC:17209, HumanCyc Gene:HS08857, ModBase:Q9NRP7, NCBI Gene:27148, OMIM:607652, RefSeq DNA:NT_005403, RefSeq Protein:NP_056505, RefSeq RNA:NM_015690, UCSC Genome Browser:NM_015690, UniProtKB:Q9NRP7 No chr2 219536749 219567440 218672026 218702717 +PA38251 11329 HGNC:17847 ENSG00000112079 serine/threonine kinase 38 STK38 nuclear Dbf2-related 1 NDR, NDR1 Yes No Comparative Toxicogenomics Database:11329, Ensembl:ENSG00000112079, GenAtlas:STK38, GeneCard:STK38, HGNC:HGNC:17847, HumanCyc Gene:HS03510, ModBase:Q15208, NCBI Gene:11329, OMIM:606964, RefSeq DNA:NT_007592, RefSeq Protein:NP_009202, RefSeq RNA:NM_007271, UCSC Genome Browser:NM_007271, UniProtKB:Q15208 No chr6 36461666 36515256 36493882 36547516 +PA38252 23012 HGNC:17848 ENSG00000211455 serine/threonine kinase 38 like STK38L nuclear Dbf2-related 2 KIAA0965, NDR2 Yes No Ensembl:ENSG00000211455, GenAtlas:STK38L, GeneCard:STK38L, HGNC:HGNC:17848, HumanCyc Gene:HS07865, ModBase:Q9Y2H1, NCBI Gene:23012, RefSeq DNA:NT_009714, RefSeq Protein:NP_055815, RefSeq RNA:NM_015000, UCSC Genome Browser:NM_015000, UniProtKB:Q9Y2H1 No chr12 27397078 27478892 27244143 27325959 +PA38243 27347 HGNC:17717 ENSG00000198648 serine/threonine kinase 39 STK39 STE20/SPS1 homolog (yeast), serine threonine kinase 39 DCHT, SPAK Yes Yes Comparative Toxicogenomics Database:27347, Ensembl:ENSG00000198648, GenAtlas:STK39, GeneCard:STK39, HGNC:HGNC:17717, HumanCyc Gene:HS03880, ModBase:Q9UEW8, NCBI Gene:27347, OMIM:607648, RefSeq DNA:NT_005403, RefSeq Protein:NP_037365, RefSeq RNA:NM_013233, UCSC Genome Browser:NM_013233, UniProtKB:Q9UEW8 No chr2 168810530 169104105 167954020 168247595 +PA36215 6789 HGNC:11408 ENSG00000101109 serine/threonine kinase 4 STK4 hippo (Drosophila) homolog, kinase responsive to stress 2, mammalian sterile 20-like 1, yeast Ste20-like KRS2, MST1, YSK3 Yes No Comparative Toxicogenomics Database:6789, Ensembl:ENSG00000101109, GenAtlas:STK4, GeneCard:STK4, HGNC:HGNC:11408, HumanCyc Gene:HS02194, ModBase:Q13043, NCBI Gene:6789, OMIM:604965, RefSeq DNA:NT_011362, RefSeq Protein:NP_006273, RefSeq RNA:NM_006282, UCSC Genome Browser:NM_006282, UniProtKB:Q13043 No chr20 43595120 43708600 44966474 45079977 +PA142670860 83931 HGNC:21373 ENSG00000196182 serine/threonine kinase 40 STK40 SINK-homologous serine/threonine kinase MGC4796, SHIK, SgK495 Yes No Comparative Toxicogenomics Database:83931, Ensembl:ENSG00000196182, GeneCard:STK40, HGNC:HGNC:21373, HumanCyc Gene:HS11983, ModBase:Q9BSA3, NCBI Gene:83931, OMIM:609437, RefSeq DNA:NT_032977, RefSeq Protein:NP_114406, RefSeq RNA:NM_032017, UniProtKB:Q8N2I9 No chr1 36805225 36851525 36339619 36385927 +PA134891744 169436 HGNC:28669 ENSG00000198870 serine/threonine kinase like domain containing 1 STKLD1 chromosome 9 open reading frame 96, serine/threonine kinase-like domain containing 1 C9orf96, MGC43306, SGK071 Yes No Ensembl:ENSG00000198870, GeneCard:C9orf96, HGNC:HGNC:28669, ModBase:Q8NE28, NCBI Gene:169436, RefSeq DNA:NT_035014, RefSeq Protein:NP_714921, RefSeq RNA:NM_153710, UniProtKB:Q8NE28 No chr9 136243284 136271220 133376413 133406096 +PA35491 3925 HGNC:6510 ENSG00000117632 stathmin 1 STMN1 oncoprotein 18 C1orf215, FLJ32206, LAP18, Lag, OP18, PP17, PP19, PR22, SMN Yes Yes Comparative Toxicogenomics Database:3925, Ensembl:ENSG00000117632, GenAtlas:STMN1, GeneCard:STMN1, HGNC:HGNC:6510, HumanCyc Gene:HS04161, ModBase:P16949, NCBI Gene:3925, OMIM:151442, RefSeq DNA:NT_004610, RefSeq Protein:NP_001138926, RefSeq Protein:NP_005554, RefSeq Protein:NP_981944, RefSeq Protein:NP_981946, RefSeq RNA:NM_001145454, RefSeq RNA:NM_005563, RefSeq RNA:NM_203399, RefSeq RNA:NM_203401, UCSC Genome Browser:NM_005563, UniProtKB:B7Z8N4, UniProtKB:P16949, UniProtKB:Q14CA7 No chr1 26210670 26233368 25884186 25906877 +PA35540 11075 HGNC:10577 ENSG00000104435 stathmin 2 STMN2 stathmin-like 2 SCG10, SCGN10 Yes Yes Comparative Toxicogenomics Database:11075, Ensembl:ENSG00000104435, GenAtlas:STMN2, GeneCard:STMN2, HGNC:HGNC:10577, HumanCyc Gene:HS02583, ModBase:Q93045, NCBI Gene:11075, OMIM:600621, RefSeq DNA:NT_008183, RefSeq Protein:NP_001186143, RefSeq Protein:NP_008960, RefSeq RNA:NM_001199214, RefSeq RNA:NM_007029, UCSC Genome Browser:NM_007029, UniProtKB:Q93045 No chr8 80523049 80578410 79610814 79666175 +PA38049 50861 HGNC:15926 ENSG00000197457 stathmin 3 STMN3 stathmin-like 3 SCLIP Yes No Ensembl:ENSG00000197457, GenAtlas:STMN3, GeneCard:STMN3, HGNC:HGNC:15926, ModBase:Q9NZ72, NCBI Gene:50861, OMIM:608362, RefSeq DNA:NT_011333, RefSeq Protein:NP_056978, RefSeq RNA:NM_015894, UCSC Genome Browser:NM_015894, UniProtKB:Q9NZ72 No chr20 62271058 62284963 63639705 63653610 +PA38089 81551 HGNC:16078 ENSG00000015592 stathmin 4 STMN4 stathmin-like 4 RB3 Yes No Comparative Toxicogenomics Database:81551, Ensembl:ENSG00000015592, GenAtlas:STMN4, GeneCard:STMN4, HGNC:HGNC:16078, HumanCyc Gene:HS00373, ModBase:Q9H169, NCBI Gene:81551, RefSeq DNA:NT_167187, RefSeq Protein:NP_110422, RefSeq RNA:NM_030795, UCSC Genome Browser:NM_030795, UniProtKB:Q9H169 No chr8 27093814 27116382 27235323 27258865 +PA166049152 401236 HGNC:44668 ENSG00000230873 stathmin domain containing 1 STMND1 FLJ23152 Yes No Ensembl:ENSG00000230873, HGNC:HGNC:44668, NCBI Gene:401236 No chr6 17102489 17131603 17102258 17131372 +PA166049075 647087 HGNC:41909 ENSG00000243317 short transmembrane mitochondrial protein 1 STMP1 chromosome 7 open reading frame 73, mitolamban C7orf73, Mm47, Mtlbn, PL-5283 Yes No Ensembl:ENSG00000243317, HGNC:HGNC:41909, NCBI Gene:647087 No chr7 135347221 135361160 135662473 135676412 +PA134987118 79991 HGNC:26200 ENSG00000107960 STN1 subunit of CST complex STN1 """STN1, CST complex subunit"", ""oligonucleotide/oligosaccharide-binding fold containing 1""" FLJ22559, OBFC1, bA541N10.2 Yes Yes Ensembl:ENSG00000107960, GeneCard:OBFC1, HGNC:HGNC:26200, HumanCyc Gene:HS03051, ModBase:Q9H668, NCBI Gene:79991, OMIM:613128, RefSeq DNA:NT_030059, RefSeq Protein:NP_079204, RefSeq RNA:NM_024928, UniProtKB:Q9H668 No chr10 105637316 105678045 103856811 103918287 +PA27816 2040 HGNC:3383 ENSG00000148175 stomatin STOM BND7, EPB7, EPB72 Yes No Comparative Toxicogenomics Database:2040, Ensembl:ENSG00000148175, GeneCard:STOM, HGNC:HGNC:3383, HumanCyc Gene:HS07496, ModBase:P27105, NCBI Gene:2040, OMIM:133090, RefSeq DNA:NT_008470, RefSeq Protein:NP_004090, RefSeq Protein:NP_937837, RefSeq RNA:NM_004099, RefSeq RNA:NM_198194, UCSC Genome Browser:NM_004099, UniProtKB:B1AM77, UniProtKB:P27105 No chr9 124101266 124132582 121338988 121370304 +PA37898 9399 HGNC:14560 ENSG00000067221 stomatin like 1 STOML1 EPB72-like 1, stomatin (EBP72)-like 1, stomatin (EPB72)-like 1, stomatin-like 1 FLJ36370, SLP-1, STORP, hUNC-24 Yes No Comparative Toxicogenomics Database:9399, Ensembl:ENSG00000067221, GenAtlas:STOML1, GeneCard:STOML1, HGNC:HGNC:14560, HumanCyc Gene:HS00905, ModBase:Q9UBI4, NCBI Gene:9399, OMIM:608326, RefSeq DNA:NT_010194, RefSeq Protein:NP_004800, RefSeq RNA:NM_004809, UCSC Genome Browser:NM_004809, UniProtKB:Q9UBI4 No chr15 74275559 74286963 73983218 73994622 +PA37897 30968 HGNC:14559 ENSG00000165283 stomatin like 2 STOML2 EPB72-like 2, stomatin (EPB72)-like 2 HSPC108, SLP-2 Yes No Comparative Toxicogenomics Database:30968, Ensembl:ENSG00000165283, GenAtlas:STOML2, GeneCard:STOML2, HGNC:HGNC:14559, HumanCyc Gene:HS09214, ModBase:Q9UJZ1, NCBI Gene:30968, OMIM:608292, RefSeq DNA:NT_008413, RefSeq Protein:NP_038470, RefSeq RNA:NM_013442, UCSC Genome Browser:NM_013442, UniProtKB:Q9UJZ1 No chr9 35099888 35103184 35099776 35103195 +PA134939552 161003 HGNC:19420 ENSG00000133115 stomatin like 3 STOML3 EPB72-like 3, stomatin (EPB72)-like 3 Epb7.2l, SRO Yes No Comparative Toxicogenomics Database:161003, Ensembl:ENSG00000133115, GeneCard:STOML3, HGNC:HGNC:19420, HumanCyc Gene:HS05738, ModBase:Q8TAV4, NCBI Gene:161003, OMIM:608327, RefSeq DNA:NT_024524, RefSeq Protein:NP_001137505, RefSeq Protein:NP_660329, RefSeq RNA:NM_001144033, RefSeq RNA:NM_145286, UniProtKB:B4E285, UniProtKB:Q8TAV4 No chr13 39540062 39564996 38965925 38990859 +PA143485623 11037 HGNC:17003 ENSG00000243244 stonin 1 STON1 stoned B homolog 1 (Drosophila) SBLF, stoned-b1 Yes No Ensembl:ENSG00000243244, GeneCard:STON1, HGNC:HGNC:17003, ModBase:Q9Y6Q2, NCBI Gene:11037, OMIM:605357, RefSeq DNA:NT_022184, RefSeq Protein:NP_001185524, RefSeq Protein:NP_006864, RefSeq RNA:NM_001198595, RefSeq RNA:NM_006873, UniProtKB:Q9Y6Q2 No chr2 48757308 48825654 48530169 48598515 +PA162405016 286749 HGNC:30651 ENSG00000068781 STON1-GTF2A1L readthrough STON1-GTF2A1L stoned B/TFIIA alpha/beta like factor SALF Yes No Ensembl:ENSG00000068781, GeneCard:STON1-GTF2A1L, HGNC:HGNC:30651, NCBI Gene:286749, RefSeq DNA:NT_022184, RefSeq Protein:NP_001185522, RefSeq Protein:NP_001185523, RefSeq Protein:NP_758515, RefSeq RNA:NM_001198593, RefSeq RNA:NM_001198594, RefSeq RNA:NM_172311, UniProtKB:Q53S48 No chr2 48757064 49003656 48529925 48776517 +PA143485624 85439 HGNC:30652 ENSG00000140022 stonin 2 STON2 stoned B homolog 2 (Drosophila) STN2, STNB2 Yes No Ensembl:ENSG00000140022, GeneCard:STON2, HGNC:HGNC:30652, HumanCyc Gene:HS06677, ModBase:Q8WXE9, NCBI Gene:85439, OMIM:608467, RefSeq DNA:NT_026437, RefSeq Protein:NP_149095, RefSeq RNA:NM_033104, UniProtKB:Q8WXE9 No chr14 81726994 81902789 81260650 81427404 +PA134883643 219736 HGNC:23508 ENSG00000165730 storkhead box 1 STOX1 C10orf24, FLJ25162 Yes No Comparative Toxicogenomics Database:219736, Ensembl:ENSG00000165730, GeneCard:STOX1, HGNC:HGNC:23508, HumanCyc Gene:HS15360, ModBase:Q5I947, NCBI Gene:219736, OMIM:189800, OMIM:609397, OMIM:609404, RefSeq DNA:NG_012975, RefSeq DNA:NT_030059, RefSeq Protein:NP_001123631, RefSeq Protein:NP_001123632, RefSeq Protein:NP_001123633, RefSeq Protein:NP_001123634, RefSeq Protein:NP_689922, RefSeq RNA:NM_001130159, RefSeq RNA:NM_001130160, RefSeq RNA:NM_001130161, RefSeq RNA:NM_001130162, RefSeq RNA:NM_152709, UniProtKB:C9JRL1, UniProtKB:Q6ZVD7 No chr10 70587294 70655209 68827537 68895942 +PA142670861 56977 HGNC:25450 ENSG00000173320 storkhead box 2 STOX2 DKFZp762K222 Yes No Ensembl:ENSG00000173320, GeneCard:STOX2, HGNC:HGNC:25450, ModBase:Q9P2F5, NCBI Gene:56977, RefSeq DNA:NT_016354, RefSeq Protein:NP_064610, RefSeq RNA:NM_020225, UniProtKB:Q9P2F5 No chr4 184826509 184944679 183796331 184023530 +PA143485320 90529 HGNC:28070 ENSG00000001460 sperm tail PG-rich repeat containing 1 STPG1 O6-methylguanine-induced apoptosis 2, sperm-tail PG-rich repeat containing 1 C1orf201, FLJ33340, MAPO2 Yes No Ensembl:ENSG00000001460, GeneCard:C1orf201, HGNC:HGNC:28070, NCBI Gene:90529, RefSeq DNA:NT_004610, RefSeq Protein:NP_001185941, RefSeq Protein:NP_001185942, RefSeq Protein:NP_001185943, RefSeq Protein:NP_835223, RefSeq RNA:NM_001199012, RefSeq RNA:NM_001199013, RefSeq RNA:NM_001199014, RefSeq RNA:NM_178122, UniProtKB:Q5TH74 No chr1 24683489 24741587 24356999 24415533 +PA162379799 285555 HGNC:28712 ENSG00000163116 sperm tail PG-rich repeat containing 2 STPG2 sperm-tail PG-rich repeat containing 2 C4orf37, MGC46496 Yes No Ensembl:ENSG00000163116, GeneCard:C4orf37, HGNC:HGNC:28712, ModBase:Q8N412, NCBI Gene:285555, RefSeq DNA:NT_016354, RefSeq Protein:NP_777612, RefSeq RNA:NM_174952, UniProtKB:Q8N412 No chr4 98480025 99064391 97441450 98143473 +PA165585550 441476 HGNC:37285 ENSG00000197768 sperm-tail PG-rich repeat containing 3 STPG3 chromosome 9 open reading frame 173 C9orf173, FLJ40246 Yes No Ensembl:ENSG00000197768, GeneCard:C9orf173, HGNC:HGNC:37285, NCBI Gene:441476, RefSeq DNA:NT_024000, RefSeq Protein:NP_001004353, RefSeq RNA:NM_001004353, UniProtKB:Q8N7X2 No chr9 140145713 140147935 137250840 137253483 +PA162379319 285051 HGNC:26850 ENSG00000239605 sperm-tail PG-rich repeat containing 4 STPG4 chromosome 2 open reading frame 61 C2orf61, FLJ40172 Yes No Ensembl:ENSG00000239605, GeneCard:C2orf61, HGNC:HGNC:26850, ModBase:Q8N801, NCBI Gene:285051, RefSeq DNA:NT_022184, RefSeq Protein:NP_001157033, RefSeq Protein:NP_775920, RefSeq RNA:NM_001163561, RefSeq RNA:NM_173649, UniProtKB:Q8N801 No chr2 47314130 47382517 47086991 47155378 +PA134956551 64220 HGNC:30650 ENSG00000137868 signaling receptor and transporter of retinol STRA6 STRA6 RBP receptor, retinol binding protein 4 receptor, stimulated by retinoic acid 6 FLJ12541 Yes No Comparative Toxicogenomics Database:64220, Ensembl:ENSG00000137868, GeneCard:STRA6, HGNC:HGNC:30650, HumanCyc Gene:HS13701, NCBI Gene:64220, OMIM:601186, OMIM:610745, RefSeq DNA:NG_009207, RefSeq DNA:NT_010194, RefSeq Protein:NP_001136089, RefSeq Protein:NP_001136090, RefSeq Protein:NP_001136091, RefSeq Protein:NP_001136092, RefSeq Protein:NP_001185969, RefSeq Protein:NP_001185970, RefSeq Protein:NP_001185971, RefSeq Protein:NP_071764, RefSeq RNA:NM_001142617, RefSeq RNA:NM_001142618, RefSeq RNA:NM_001142619, RefSeq RNA:NM_001142620, RefSeq RNA:NM_001199040, RefSeq RNA:NM_001199041, RefSeq RNA:NM_001199042, RefSeq RNA:NM_022369, UniProtKB:B3KPB8, UniProtKB:Q9BX79 No chr15 74471802 74502046 74179466 74212267 +PA162405043 346673 HGNC:30653 ENSG00000146857 stimulated by retinoic acid 8 STRA8 Yes No Ensembl:ENSG00000146857, GeneCard:STRA8, HGNC:HGNC:30653, ModBase:Q7Z7C7, NCBI Gene:346673, OMIM:609987, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_872295, RefSeq RNA:NM_182489, UniProtKB:Q7Z7C7 No chr7 134916731 134943244 135231979 135258661 +PA164726342 92335 HGNC:30172 ENSG00000266173 STE20 related adaptor alpha STRADA STE20-like pseudokinase, STE20-related kinase adaptor alpha LYK5, NY-BR-96, STRAD, Stlk Yes No Ensembl:ENSG00000266173, GeneCard:STRADA, HGNC:HGNC:30172, HumanCyc Gene:HS04916, ModBase:Q7RTN6, NCBI Gene:92335, OMIM:608626, OMIM:611087, RefSeq DNA:NG_015817, RefSeq DNA:NT_010783, RefSeq Protein:NP_001003786, RefSeq Protein:NP_001003787, RefSeq Protein:NP_001003788, RefSeq Protein:NP_001159441, RefSeq Protein:NP_001159442, RefSeq Protein:NP_699166, RefSeq RNA:NM_001003786, RefSeq RNA:NM_001003787, RefSeq RNA:NM_001003788, RefSeq RNA:NM_001165969, RefSeq RNA:NM_001165970, RefSeq RNA:NM_153335, UniProtKB:B4DDE3, UniProtKB:B4DW17, UniProtKB:Q5JPI2, UniProtKB:Q7RTN6, UniProtKB:Q86YC8 No chr17 61780192 61819330 63702832 63741970 +PA24743 55437 HGNC:13205 ENSG00000082146 STE20 related adaptor beta STRADB STE20-related kinase adaptor beta ALS2CR2, CALS-21, ILPIP, ILPIPA, PAPK Yes No Comparative Toxicogenomics Database:55437, Ensembl:ENSG00000082146, GenAtlas:ALS2CR2, GeneCard:ALS2CR2, GeneCard:STRADB, HGNC:HGNC:13205, HumanCyc Gene:HS01413, NCBI Gene:55437, OMIM:607333, RefSeq DNA:NT_005403, RefSeq Protein:NP_001193793, RefSeq Protein:NP_061041, RefSeq RNA:NM_001206864, RefSeq RNA:NM_018571, UCSC Genome Browser:NM_018571, UniProtKB:Q9C0K7 No chr2 202316392 202359501 201451669 201480851 +PA134867032 11171 HGNC:30796 ENSG00000023734 serine/threonine kinase receptor associated protein STRAP MAPK activator with WD repeats, Unr-interacting protein, mitogen-activated protein kinase activator with WD repeats MAWD, UNRIP, pt-wd Yes No Comparative Toxicogenomics Database:11171, Ensembl:ENSG00000023734, GeneCard:STRAP, HGNC:HGNC:30796, HumanCyc Gene:HS00430, ModBase:Q9Y3F4, NCBI Gene:11171, OMIM:605986, RefSeq DNA:NT_009714, RefSeq Protein:NP_009109, RefSeq RNA:NM_007178, UniProtKB:Q9Y3F4 No chr12 16035288 16056412 15882354 15903478 +PA38145 55342 HGNC:16462 ENSG00000165209 spermatid perinuclear RNA binding protein STRBP FLJ11307, ILF3L, SPNR Yes Yes Ensembl:ENSG00000165209, GenAtlas:STRBP, GeneCard:STRBP, HGNC:HGNC:16462, HumanCyc Gene:HS09202, ModBase:Q96SI9, NCBI Gene:55342, OMIM:611138, RefSeq DNA:NT_008470, RefSeq Protein:NP_001164608, RefSeq Protein:NP_060857, RefSeq RNA:NM_001171137, RefSeq RNA:NM_018387, RefSeq RNA:NR_033234, UCSC Genome Browser:NM_018387, UniProtKB:Q96SI9 No chr9 125878338 126030855 123109494 123268576 +PA38082 161497 HGNC:16035 ENSG00000242866 stereocilin STRC DFNB16 Yes No Comparative Toxicogenomics Database:161497, Ensembl:ENSG00000242866, GenAtlas:STRC, GeneCard:STRC, HGNC:HGNC:16035, HumanCyc Gene:HS15478, ModBase:Q7RTU9, NCBI Gene:161497, OMIM:603720, OMIM:606440, RefSeq DNA:NG_005156, RefSeq DNA:NG_011636, RefSeq DNA:NT_010194, RefSeq Protein:NP_714544, RefSeq RNA:NM_153700, UCSC Genome Browser:NM_153700, UniProtKB:Q7RTU9 No chr15 43891685 44002286 43599243 43619669 +PA134939426 85369 HGNC:25916 ENSG00000143093 striatin interacting protein 1 STRIP1 FAR11 factor arrest 11 homolog A (yeast) FAM40A, FAR11A, FLJ14743, KIAA1761 Yes No Ensembl:ENSG00000143093, GeneCard:FAM40A, HGNC:HGNC:25916, ModBase:Q5VSL9, NCBI Gene:85369, RefSeq DNA:NT_032977, RefSeq Protein:NP_149079, RefSeq RNA:NM_033088, UniProtKB:Q5VSL9 No chr1 110574199 110597263 110031577 110054641 +PA134923427 57464 HGNC:22209 ENSG00000128578 striatin interacting protein 2 STRIP2 FAR11 factor arrest 11 homolog B (yeast) FAM40B, FAR11B, KIAA1170 Yes No Ensembl:ENSG00000128578, GeneCard:FAM40B, HGNC:HGNC:22209, ModBase:Q9ULQ0, NCBI Gene:57464, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001127808, RefSeq Protein:NP_065755, RefSeq RNA:NM_001134336, RefSeq RNA:NM_020704, UniProtKB:Q9ULQ0 No chr7 129074274 129128240 129434433 129488399 +PA166182673 100507537 HGNC:52297 ENSG00000240045 small transmembrane regulator of ion transport 1 STRIT1 DWORF Yes No Ensembl:ENSG00000240045, HGNC:HGNC:52297, NCBI Gene:100507537 No 0 0 0 0 +PA36224 6801 HGNC:11424 ENSG00000115808 striatin STRN """protein phosphatase 2 regulatory subunit B'''alpha"", ""striatin, calmodulin binding protein""" PPP2R6A, SG2NA, STRN1 Yes No Comparative Toxicogenomics Database:6801, Ensembl:ENSG00000115808, GenAtlas:STRN, GeneCard:STRN, HGNC:HGNC:11424, HumanCyc Gene:HS03938, ModBase:O43815, NCBI Gene:6801, RefSeq DNA:NT_022184, RefSeq Protein:NP_003153, RefSeq RNA:NM_003162, UCSC Genome Browser:NM_003162, UniProtKB:O43815 No chr2 37064841 37193673 36837698 36966607 +PA38394 29966 HGNC:15720 ENSG00000196792 striatin 3 STRN3 """cell cycle S/G2 nuclear autoantigen"", ""protein phosphatase 2 regulatory subunit B'''beta"", ""striatin, calmodulin binding protein 3""" PPP2R6B, S/G2NA, SG2NA Yes No Comparative Toxicogenomics Database:29966, Ensembl:ENSG00000196792, GenAtlas:STRN3, GeneCard:STRN3, HGNC:HGNC:15720, ModBase:Q13033, NCBI Gene:29966, RefSeq DNA:NT_026437, RefSeq Protein:NP_001077362, RefSeq Protein:NP_055389, RefSeq RNA:NM_001083893, RefSeq RNA:NM_014574, UCSC Genome Browser:NM_014574, UniProtKB:Q13033 No chr14 31362985 31495607 30893799 31026528 +PA134863218 29888 HGNC:15721 ENSG00000090372 striatin 4 STRN4 """protein phosphatase 2 regulatory subunit B'''gamma"", ""striatin, calmodulin binding protein 4""" PPP2R6C, ZIN, zinedin Yes No Comparative Toxicogenomics Database:29888, Ensembl:ENSG00000090372, GeneCard:STRN4, HGNC:HGNC:15721, HumanCyc Gene:HS01685, ModBase:Q9NRL3, NCBI Gene:29888, RefSeq DNA:NT_011109, RefSeq Protein:NP_001034966, RefSeq Protein:NP_037535, RefSeq RNA:NM_001039877, RefSeq RNA:NM_013403, UniProtKB:Q59GV6, UniProtKB:Q9NRL3 No chr19 47222768 47250251 46719509 46746475 +PA36225 412 HGNC:11425 ENSG00000101846 steroid sulfatase STS """arylsulfatase C"", ""steroid sulfatase (microsomal), isozyme S"", ""steryl-sulfatase""" ARSC, ARSC1 Yes No Comparative Toxicogenomics Database:412, Ensembl:ENSG00000101846, GenAtlas:STS, GeneCard:STS, HGNC:HGNC:11425, HumanCyc Gene:HS02306, ModBase:P08842, NCBI Gene:412, OMIM:300747, OMIM:308100, RefSeq DNA:NG_021472, RefSeq DNA:NT_167197, RefSeq Protein:NP_000342, RefSeq RNA:NM_000351, UCSC Genome Browser:NM_000351, UniProtKB:P08842 No chrX 7065298 7272682 7147252 7354643 +PA36226 6803 HGNC:11426 ENSG00000227166 steroid sulfatase (microsomal) pseudogene 1 STSP1 STS-Y Yes No Ensembl:ENSG00000227166, GenAtlas:STSP, GeneCard:STSP1, HGNC:HGNC:11426, NCBI Gene:6803, RefSeq DNA:NG_001197, RefSeq DNA:NT_011875 No chrY 17659089 17688171 15547218 15566909 +PA29969 3703 HGNC:6172 ENSG00000134910 STT3 oligosaccharyltransferase complex catalytic subunit A STT3A """STT3A, catalytic subunit of the oligosaccharyltransferase complex"", ""STT3A, subunit of the oligosaccharyltransferase complex (catalytic)"", ""dolichyl-diphosphooligosaccharide protein glycotransferase""" ITM1, MGC9042, STT3-A, TMC Yes No Comparative Toxicogenomics Database:3703, Ensembl:ENSG00000134910, GenAtlas:STT3A, GeneCard:STT3A, HGNC:HGNC:6172, HumanCyc Gene:HS05930, ModBase:P46977, NCBI Gene:3703, OMIM:601134, RefSeq DNA:NT_033899, RefSeq Protein:NP_689926, RefSeq RNA:NM_152713, UCSC Genome Browser:NM_002219, UCSC Genome Browser:NM_152713, UniProtKB:P46977 No chr11 125462690 125492654 125592795 125622759 +PA143485625 201595 HGNC:30611 ENSG00000163527 STT3 oligosaccharyltransferase complex catalytic subunit B STT3B """Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B"", ""STT3B, catalytic subunit of the oligosaccharyltransferase complex"", ""STT3B, subunit of the oligosaccharyltransferase complex (catalytic)"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"", ""source of immunodominant MHC associated peptides""" FLJ90106, SIMP, STT3-B Yes No Comparative Toxicogenomics Database:201595, Ensembl:ENSG00000163527, GeneCard:STT3B, HGNC:HGNC:30611, ModBase:Q8TCJ2, NCBI Gene:201595, OMIM:608605, RefSeq DNA:NT_022517, RefSeq Protein:NP_849193, RefSeq RNA:NM_178862, UniProtKB:Q8TCJ2 No chr3 31574130 31677556 31532501 31637622 +PA36227 10273 HGNC:11427 ENSG00000103266 STIP1 homology and U-box containing protein 1 STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase CHIP, HSPABP2, NY-CO-7, SDCCAG7, UBOX1 Yes No Comparative Toxicogenomics Database:10273, Ensembl:ENSG00000103266, GenAtlas:STUB1, GeneCard:STUB1, HGNC:HGNC:11427, HumanCyc Gene:HS02482, ModBase:Q9UNE7, NCBI Gene:10273, OMIM:607207, RefSeq DNA:NT_010393, RefSeq Protein:NP_005852, RefSeq RNA:NM_005861, UCSC Genome Browser:NM_005861, UniProtKB:Q9UNE7 No chr16 730115 732768 680111 682768 +PA142672479 375057 HGNC:30491 ENSG00000203685 stum, mechanosensory transduction mediator homolog STUM chromosome 1 open reading frame 95, stumble homolog (Drosophila) C1orf95, DKFZp761P211 Yes No Ensembl:ENSG00000203685, GeneCard:C1orf95, HGNC:HGNC:30491, ModBase:Q69YW2, NCBI Gene:375057, RefSeq DNA:NT_167186, RefSeq Protein:NP_001003665, RefSeq RNA:NM_001003665, UniProtKB:Q69YW2 No chr1 226736501 226796915 226548238 226609214 +PA36228 8677 HGNC:11428 ENSG00000104915 syntaxin 10 STX10 SYN10, hsyn10 Yes No Ensembl:ENSG00000104915, GenAtlas:STX10, GeneCard:STX10, HGNC:HGNC:11428, HumanCyc Gene:HS02654, ModBase:O60499, NCBI Gene:8677, OMIM:603765, RefSeq DNA:NT_011295, RefSeq Protein:NP_003756, RefSeq RNA:NM_003765, UCSC Genome Browser:NM_003765, UniProtKB:O60499 No chr19 13254872 13261188 13144058 13150374 +PA36229 8676 HGNC:11429 ENSG00000135604 syntaxin 11 STX11 Yes No Comparative Toxicogenomics Database:8676, Ensembl:ENSG00000135604, GenAtlas:STX11, GeneCard:STX11, HGNC:HGNC:11429, HumanCyc Gene:HS06034, ModBase:O75558, NCBI Gene:8676, OMIM:603552, OMIM:605014, RefSeq DNA:NG_007613, RefSeq DNA:NT_025741, RefSeq Protein:NP_003755, RefSeq RNA:NM_003764, UCSC Genome Browser:NM_003764, UniProtKB:O75558 No chr6 144461770 144513076 144140044 144191939 +PA36230 23673 HGNC:11430 ENSG00000117758 syntaxin 12 STX12 STX13, STX14 Yes No Comparative Toxicogenomics Database:23673, Ensembl:ENSG00000117758, GenAtlas:STX12, GeneCard:STX12, HGNC:HGNC:11430, ModBase:Q86Y82, NCBI Gene:23673, OMIM:606892, RefSeq DNA:NT_004610, RefSeq Protein:NP_803173, RefSeq RNA:NM_177424, UCSC Genome Browser:NM_177424, UniProtKB:B1AJQ7, UniProtKB:Q86Y82 No chr1 28099694 28150963 27773183 27824452 +PA36231 8675 HGNC:11431 ENSG00000124222 syntaxin 16 STX16 SYN-16, SYN16, hsyn16 Yes No Comparative Toxicogenomics Database:8675, Ensembl:ENSG00000124222, GenAtlas:STX16, GeneCard:STX16, HGNC:HGNC:11431, HumanCyc Gene:HS04743, ModBase:Q9H0Z0, NCBI Gene:8675, OMIM:603233, OMIM:603666, RefSeq DNA:NG_011831, RefSeq DNA:NT_011362, RefSeq Protein:NP_001001433, RefSeq Protein:NP_001128244, RefSeq Protein:NP_001128245, RefSeq Protein:NP_001191797, RefSeq Protein:NP_003754, RefSeq RNA:NM_001001433, RefSeq RNA:NM_001134772, RefSeq RNA:NM_001134773, RefSeq RNA:NM_001204868, RefSeq RNA:NM_003763, RefSeq RNA:NR_037941, RefSeq RNA:NR_037942, RefSeq RNA:NR_037943, UCSC Genome Browser:NM_003763, UniProtKB:O14662, UniProtKB:Q6GMS8 No chr20 57226309 57254582 58651253 58679526 +PA36232 55014 HGNC:11432 ENSG00000136874 syntaxin 17 STX17 FLJ20651 Yes No Comparative Toxicogenomics Database:55014, Ensembl:ENSG00000136874, GenAtlas:STX17, GeneCard:STX17, HGNC:HGNC:11432, HumanCyc Gene:HS06235, ModBase:P56962, NCBI Gene:55014, OMIM:604204, RefSeq DNA:NT_008470, RefSeq Protein:NP_060389, RefSeq RNA:NM_017919, UniProtKB:P56962 No chr9 102668915 102736818 99906633 99974537 +PA38061 53407 HGNC:15942 ENSG00000168818 syntaxin 18 STX18 Ufe1 Yes No Comparative Toxicogenomics Database:53407, Ensembl:ENSG00000168818, GenAtlas:STX18, GeneCard:STX18, HGNC:HGNC:15942, HumanCyc Gene:HS09829, ModBase:Q9P2W9, NCBI Gene:53407, OMIM:606046, RefSeq DNA:NT_006051, RefSeq Protein:NP_058626, RefSeq RNA:NM_016930, UCSC Genome Browser:NM_016930, UniProtKB:Q9P2W9 No chr4 4420695 4543775 4418968 4542338 +PA142670857 415117 HGNC:19300 ENSG00000178750 syntaxin 19 STX19 MGC21382 Yes No Ensembl:ENSG00000178750, GeneCard:STX19, HGNC:HGNC:19300, ModBase:Q8N4C7, NCBI Gene:415117, RefSeq DNA:NT_005612, RefSeq Protein:NP_001001850, RefSeq RNA:NM_001001850, UniProtKB:Q8N4C7 No chr3 93733078 93747460 94014365 94029281 +PA36233 6804 HGNC:11433 ENSG00000106089 syntaxin 1A STX1A syntaxin 1A (brain) HPC-1, STX1, p35-1 Yes No Comparative Toxicogenomics Database:6804, Ensembl:ENSG00000106089, GenAtlas:STX1A, GeneCard:STX1A, HGNC:HGNC:11433, HumanCyc Gene:HS02861, NCBI Gene:6804, OMIM:186590, RefSeq DNA:NG_013360, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001159375, RefSeq Protein:NP_004594, RefSeq RNA:NM_001165903, RefSeq RNA:NM_004603, UCSC Genome Browser:NM_004603, UniProtKB:Q16623, UniProtKB:Q75ME0 No chr7 73113535 73134032 73699205 73719702 +PA38345 112755 HGNC:18539 ENSG00000099365 syntaxin 1B STX1B STX1B1, STX1B2 Yes Yes Comparative Toxicogenomics Database:112755, Ensembl:ENSG00000099365, GenAtlas:STX1B2, GeneCard:STX1B, GeneCard:STX1B2, HGNC:HGNC:18539, HumanCyc Gene:HS01892, NCBI Gene:112755, OMIM:601485, RefSeq DNA:NT_010393, RefSeq Protein:NP_443106, RefSeq RNA:NM_052874, UCSC Genome Browser:NM_052874, UniProtKB:P61266 No chr16 31000577 31021829 30989256 31010638 +PA27831 2054 HGNC:3403 ENSG00000111450 syntaxin 2 STX2 EPIM, EPM, STX2A, STX2B, STX2C Yes No Comparative Toxicogenomics Database:2054, Ensembl:ENSG00000111450, GenAtlas:STX2, GeneCard:STX2, HGNC:HGNC:3403, HumanCyc Gene:HS03419, ModBase:P32856, NCBI Gene:2054, OMIM:132350, RefSeq DNA:NT_009755, RefSeq Protein:NP_001971, RefSeq Protein:NP_919337, RefSeq RNA:NM_001980, RefSeq RNA:NM_194356, UCSC Genome Browser:NM_001980, UniProtKB:P32856 No chr12 131274145 131323819 130789600 130839274 +PA36235 6809 HGNC:11438 ENSG00000166900 syntaxin 3 STX3 STX3A Yes No Comparative Toxicogenomics Database:6809, Ensembl:ENSG00000166900, GenAtlas:STX3, GeneCard:STX3, HGNC:HGNC:11438, HumanCyc Gene:HS09476, ModBase:Q13277, NCBI Gene:6809, OMIM:600876, RefSeq DNA:NT_167190, RefSeq Protein:NP_001171511, RefSeq Protein:NP_004168, RefSeq RNA:NM_001178040, RefSeq RNA:NM_004177, UCSC Genome Browser:NM_004177, UniProtKB:B4DME0, UniProtKB:Q13277, UniProtKB:Q53YE2 No chr11 59522479 59573355 59755059 59805882 +PA36236 6810 HGNC:11439 ENSG00000103496 syntaxin 4 STX4 STX4A, p35-2 Yes Yes Ensembl:ENSG00000103496, GenAtlas:STX4, GeneCard:STX4, HGNC:HGNC:11439, HumanCyc Gene:HS02512, ModBase:Q12846, NCBI Gene:6810, OMIM:186591, RefSeq DNA:NT_010393, RefSeq Protein:NP_004595, RefSeq RNA:NM_004604, UCSC Genome Browser:NM_004604, UniProtKB:Q12846 No chr16 31044416 31051489 31033095 31040168 +PA36237 6811 HGNC:11440 ENSG00000162236 syntaxin 5 STX5 SED5, STX5A Yes No Ensembl:ENSG00000162236, GenAtlas:STX5, GeneCard:STX5, HGNC:HGNC:11440, HumanCyc Gene:HS08652, ModBase:Q13190, NCBI Gene:6811, OMIM:603189, RefSeq DNA:NT_167190, RefSeq Protein:NP_003155, RefSeq RNA:NM_003164, UCSC Genome Browser:NM_003164, UniProtKB:Q13190 No chr11 62574332 62599563 62806860 62832091 +PA36238 10228 HGNC:11441 ENSG00000135823 syntaxin 6 STX6 Yes No Comparative Toxicogenomics Database:10228, Ensembl:ENSG00000135823, GenAtlas:STX6, GeneCard:STX6, HGNC:HGNC:11441, HumanCyc Gene:HS06067, ModBase:O43752, NCBI Gene:10228, OMIM:603944, RefSeq DNA:NT_004487, RefSeq Protein:NP_005810, RefSeq RNA:NM_005819, UCSC Genome Browser:NM_005819, UniProtKB:O43752 No chr1 180942164 180992074 180949690 181023121 +PA36239 8417 HGNC:11442 ENSG00000079950 syntaxin 7 STX7 Yes No Ensembl:ENSG00000079950, GenAtlas:STX7, GeneCard:STX7, HGNC:HGNC:11442, HumanCyc Gene:HS01342, ModBase:O15400, NCBI Gene:8417, OMIM:603217, RefSeq DNA:NT_025741, RefSeq Protein:NP_003560, RefSeq RNA:NM_003569, UCSC Genome Browser:NM_003569, UniProtKB:O15400 No chr6 132778663 132834337 132457524 132513198 +PA36240 9482 HGNC:11443 ENSG00000170310 syntaxin 8 STX8 CARB Yes No Comparative Toxicogenomics Database:9482, Ensembl:ENSG00000170310, GenAtlas:STX8, GeneCard:STX8, HGNC:HGNC:11443, HumanCyc Gene:HS10098, ModBase:Q9UNK0, NCBI Gene:9482, OMIM:604203, RefSeq DNA:NT_010718, RefSeq Protein:NP_004844, RefSeq RNA:NM_004853, RefSeq RNA:NR_033656, UCSC Genome Browser:NM_004853, UniProtKB:Q9UNK0 No chr17 9153788 9479275 9250471 9575958 +PA36241 6812 HGNC:11444 ENSG00000136854 syntaxin binding protein 1 STXBP1 syntaxin-binding protein 1 MUNC18-1, UNC18, hUNC18, nSec1, rbSec1 Yes No Comparative Toxicogenomics Database:6812, Ensembl:ENSG00000136854, GenAtlas:STXBP1, GeneCard:STXBP1, HGNC:HGNC:11444, HumanCyc Gene:HS06225, ModBase:P61764, NCBI Gene:6812, OMIM:602926, OMIM:612164, RefSeq DNA:NG_016623, RefSeq DNA:NT_008470, RefSeq Protein:NP_001027392, RefSeq Protein:NP_003156, RefSeq RNA:NM_001032221, RefSeq RNA:NM_003165, UCSC Genome Browser:NM_003165, UniProtKB:P61764, UniProtKB:Q68CM6 No chr9 130374486 130454995 127612207 127692716 +PA36242 6813 HGNC:11445 ENSG00000076944 syntaxin binding protein 2 STXBP2 Hunc18b, MUNC18-2, UNC18B, Unc18-2 Yes No Comparative Toxicogenomics Database:6813, Ensembl:ENSG00000076944, GenAtlas:STXBP2, GeneCard:STXBP2, HGNC:HGNC:11445, HumanCyc Gene:HS01223, ModBase:Q15833, NCBI Gene:6813, OMIM:601717, RefSeq DNA:NG_016709, RefSeq DNA:NT_077812, RefSeq Protein:NP_001120868, RefSeq Protein:NP_008880, RefSeq RNA:NM_001127396, RefSeq RNA:NM_006949, UCSC Genome Browser:NM_006949, UniProtKB:Q53GF4, UniProtKB:Q9BU65 No chr19 7701987 7712760 7637101 7647874 +PA36243 6814 HGNC:11446 ENSG00000116266 syntaxin binding protein 3 STXBP3 UNC-18C Yes No Ensembl:ENSG00000116266, GenAtlas:STXBP3, GeneCard:STXBP3, HGNC:HGNC:11446, HumanCyc Gene:HS04003, ModBase:O00186, NCBI Gene:6814, OMIM:608339, RefSeq DNA:NT_032977, RefSeq Protein:NP_009200, RefSeq RNA:NM_007269, UCSC Genome Browser:NM_007269, UniProtKB:O00186 No chr1 109289285 109352148 108746663 108809526 +PA134962267 252983 HGNC:19694 ENSG00000166263 syntaxin binding protein 4 STXBP4 MGC50337, Synip Yes Yes Ensembl:ENSG00000166263, GeneCard:STXBP4, HGNC:HGNC:19694, ModBase:Q6ZWJ1, NCBI Gene:252983, OMIM:610415, RefSeq DNA:NT_010783, RefSeq Protein:NP_848604, RefSeq RNA:NM_178509, UniProtKB:Q6ZWJ1 No chr17 53046119 53241646 54968728 55164285 +PA134954258 134957 HGNC:19665 ENSG00000164506 syntaxin binding protein 5 STXBP5 syntaxin binding protein 5 (tomosyn) LLGL3, tomosyn, tomosyn-1 Yes No Comparative Toxicogenomics Database:134957, Ensembl:ENSG00000164506, GeneCard:STXBP5, HGNC:HGNC:19665, HumanCyc Gene:HS15207, ModBase:Q5T5C0, NCBI Gene:134957, OMIM:604586, RefSeq DNA:NT_025741, RefSeq Protein:NP_001121187, RefSeq Protein:NP_640337, RefSeq RNA:NM_001127715, RefSeq RNA:NM_139244, UniProtKB:Q5T5C0 No chr6 147525494 147711612 147204184 147390476 +PA134976391 9515 HGNC:30757 ENSG00000145087 syntaxin binding protein 5L STXBP5L syntaxin binding protein 5 like, syntaxin binding protein 5-like KIAA1006, LLGL4, tomosyn-2 Yes No Ensembl:ENSG00000145087, GeneCard:STXBP5L, HGNC:HGNC:30757, ModBase:Q9Y2K9, NCBI Gene:9515, OMIM:609381, RefSeq DNA:NT_005612, RefSeq Protein:NP_055795, RefSeq RNA:NM_014980, UniProtKB:Q9Y2K9 No chr3 120627050 121143608 120908203 121424761 +PA134985567 29091 HGNC:19666 ENSG00000168952 syntaxin binding protein 6 STXBP6 syntaxin binding protein 6 (amisyn) HSPC156, amisyn Yes No Comparative Toxicogenomics Database:29091, Ensembl:ENSG00000168952, GeneCard:STXBP6, HGNC:HGNC:19666, HumanCyc Gene:HS15733, ModBase:Q8NFX7, NCBI Gene:29091, OMIM:607958, RefSeq DNA:NT_026437, RefSeq Protein:NP_054897, RefSeq RNA:NM_014178, UniProtKB:Q8NFX7 No chr14 25278860 25519095 24809654 25050297 +PA134976821 55359 HGNC:18889 ENSG00000060140 serine/threonine/tyrosine kinase 1 STYK1 DKFZp761P1010, NOK, SuRTK106 Yes No Ensembl:ENSG00000060140, GeneCard:STYK1, HGNC:HGNC:18889, HumanCyc Gene:HS00740, ModBase:Q6J9G0, NCBI Gene:55359, OMIM:611433, RefSeq DNA:NT_009714, RefSeq Protein:NP_060893, RefSeq RNA:NM_018423, UniProtKB:Q6J9G0 No chr12 10771538 10826917 10618923 10674318 +PA36244 6815 HGNC:11447 ENSG00000198252 serine/threonine/tyrosine interacting protein STYX Yes No Comparative Toxicogenomics Database:6815, Ensembl:ENSG00000198252, GenAtlas:STYX, GeneCard:STYX, HGNC:HGNC:11447, ModBase:Q8WUJ0, NCBI Gene:6815, RefSeq DNA:NT_026437, RefSeq Protein:NP_001124173, RefSeq Protein:NP_660294, RefSeq RNA:NM_001130701, RefSeq RNA:NM_145251, UCSC Genome Browser:NM_145251, UniProtKB:B9EJG0, UniProtKB:Q8WUJ0 No chr14 53196883 53241707 52730159 52774989 +PA134942462 51657 HGNC:18165 ENSG00000127952 serine/threonine/tyrosine interacting like 1 STYXL1 serine/threonine/tyrosine interacting-like 1 DUSP24, MK-STYX Yes No Ensembl:ENSG00000127952, GeneCard:STYXL1, HGNC:HGNC:18165, HumanCyc Gene:HS05142, ModBase:Q9Y6J8, NCBI Gene:51657, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_057170, RefSeq RNA:NM_016086, UniProtKB:Q9Y6J8 No chr7 75625610 75677321 75995820 76048709 +PA166352201 92235 HGNC:25034 serine/threonine/tyrosine interacting like 2 STYXL2 DUSP27 Yes No HGNC:HGNC:25034, NCBI Gene:92235 No 0 0 0 0 +PA142670858 10923 HGNC:19985 ENSG00000113387 SUB1 regulator of transcription SUB1 """SUB1 homolog (S. cerevisiae)"", ""SUB1 homolog, transcriptional regulator"", ""positive cofactor 4""" PC4, p14, p15 Yes No Comparative Toxicogenomics Database:10923, Ensembl:ENSG00000113387, GeneCard:SUB1, HGNC:HGNC:19985, HumanCyc Gene:HS03677, ModBase:P53999, NCBI Gene:10923, OMIM:600503, RefSeq DNA:NT_006576, RefSeq Protein:NP_006704, RefSeq RNA:NM_006713, UniProtKB:P53999, UniProtKB:Q6IBA2 No chr5 32585605 32604185 32531778 32604079 +PA142670859 728938 HGNC:32300 ENSG00000227203 SUB1 homolog (S. cerevisiae) pseudogene 1 SUB1P1 Yes No Ensembl:ENSG00000227203, GeneCard:SUB1P1, HGNC:HGNC:32300, NCBI Gene:728938, RefSeq DNA:NG_007169, RefSeq DNA:NT_077531 No chr8 11647461 11648594 11789952 11791285 +PA36245 8803 HGNC:11448 ENSG00000136143 succinate-CoA ligase ADP-forming subunit beta SUCLA2 """succinate--CoA ligase (ADP-forming)"", ""succinate-CoA ligase ADP-forming beta subunit"", ""succinate-CoA ligase, ADP-forming, beta subunit""" LINC00444 Yes Yes Comparative Toxicogenomics Database:8803, Ensembl:ENSG00000136143, GenAtlas:SUCLA2, GeneCard:SUCLA2, HGNC:HGNC:11448, HumanCyc Gene:HS06116, ModBase:Q9P2R7, NCBI Gene:8803, OMIM:251880, OMIM:603921, OMIM:609560, OMIM:612073, RefSeq DNA:NG_008241, RefSeq DNA:NT_024524, RefSeq Protein:NP_003841, RefSeq RNA:NM_003850, UCSC Genome Browser:NM_003850, UniProtKB:Q9P2R7, UniProtKB:Q9Y4T0 No chr13 48516791 48612125 47942656 48037972 +PA134865111 646520 succinate-CoA ligase, ADP-forming, beta subunit pseudogene SUCLA2P Yes No NCBI Gene:646520 No chr6 30436650 30438699 30468873 30470922 +PA36246 8802 HGNC:11449 ENSG00000163541 succinate-CoA ligase GDP/ADP-forming subunit alpha SUCLG1 """succinate-CoA ligase alpha subunit"", ""succinate-CoA ligase, alpha subunit""" Yes No Comparative Toxicogenomics Database:8802, Ensembl:ENSG00000163541, GenAtlas:SUCLG1, GeneCard:SUCLG1, HGNC:HGNC:11449, HumanCyc Gene:HS08877, ModBase:P53597, NCBI Gene:8802, OMIM:245400, OMIM:611224, RefSeq DNA:NG_016755, RefSeq DNA:NT_022184, RefSeq Protein:NP_003840, RefSeq RNA:NM_003849, UCSC Genome Browser:NM_003849, UniProtKB:P53597 No chr2 84650647 84686586 84423523 84459462 +PA36247 8801 HGNC:11450 ENSG00000172340 succinate-CoA ligase GDP-forming subunit beta SUCLG2 """succinate-CoA ligase GDP-forming beta subunit"", ""succinate-CoA ligase, GDP-forming, beta subunit""" Yes No Comparative Toxicogenomics Database:8801, Ensembl:ENSG00000172340, GenAtlas:SUCLG2, GeneCard:SUCLG2, HGNC:HGNC:11450, HumanCyc Gene:HS10493, ModBase:Q96I99, NCBI Gene:8801, OMIM:603922, RefSeq DNA:NT_022459, RefSeq Protein:NP_001171070, RefSeq Protein:NP_003839, RefSeq RNA:NM_001177599, RefSeq RNA:NM_003848, UCSC Genome Browser:NM_003848, UniProtKB:C9JVT2, UniProtKB:Q96I99 No chr3 67410884 67705038 67240957 67654614 +PA28934 56670 HGNC:4542 ENSG00000198829 succinate receptor 1 SUCNR1 GPR91 Yes No Comparative Toxicogenomics Database:56670, Ensembl:ENSG00000198829, GenAtlas:SUCNR1, GeneCard:SUCNR1, HGNC:HGNC:4542, IUPHAR Receptor:166, ModBase:Q9BXA5, NCBI Gene:56670, OMIM:606381, RefSeq DNA:NT_005612, RefSeq Protein:NP_149039, RefSeq RNA:NM_033050, UCSC Genome Browser:NM_033050, UniProtKB:Q9BXA5 No chr3 151591431 151599876 151873643 151884619 +PA25621 51430 HGNC:1240 ENSG00000094975 SUN domain containing ossification factor SUCO SUN-like protein 1, osteopotentia C1orf9, CH1, OPT, SLP1 Yes No Ensembl:ENSG00000094975, GenAtlas:C1orf9, GeneCard:C1orf9, HGNC:HGNC:1240, HumanCyc Gene:HS12351, ModBase:Q9UBS9, NCBI Gene:51430, RefSeq DNA:NT_004487, RefSeq Protein:NP_055098, RefSeq Protein:NP_057311, RefSeq RNA:NM_014283, RefSeq RNA:NM_016227, UCSC Genome Browser:NM_014283, UniProtKB:Q9UBS9 No chr1 172501494 172580973 172532349 172611833 +PA143485626 64426 HGNC:29545 ENSG00000111707 SDS3 homolog, SIN3A corepressor complex component SUDS3 """sin3A-associated protein, 45kDa"", ""suppressor of defective silencing 3 homolog (S. cerevisiae)""" FLJ00052, SAP45, SDS3 Yes No Ensembl:ENSG00000111707, GeneCard:SUDS3, HGNC:HGNC:29545, ModBase:Q9H7L9, NCBI Gene:64426, OMIM:608250, RefSeq DNA:NT_009775, RefSeq Protein:NP_071936, RefSeq RNA:NM_022491, UniProtKB:Q9H7L9 No chr12 118814358 118855840 118373189 118418035 +PA38146 51684 HGNC:16466 ENSG00000107882 SUFU negative regulator of hedgehog signaling SUFU suppressor of fused homolog (Drosophila) PRO1280, SUFUH, SUFUXL Yes No Comparative Toxicogenomics Database:51684, Ensembl:ENSG00000107882, GenAtlas:SUFU, GeneCard:SUFU, HGNC:HGNC:16466, HumanCyc Gene:HS03042, NCBI Gene:51684, OMIM:155255, OMIM:607035, RefSeq DNA:NG_021338, RefSeq DNA:NT_030059, RefSeq Protein:NP_001171604, RefSeq Protein:NP_057253, RefSeq RNA:NM_001178133, RefSeq RNA:NM_016169, UCSC Genome Browser:NM_016169, UniProtKB:Q9UMX1 No chr10 104263719 104393214 102502879 102633458 +PA25942 79783 HGNC:16001 ENSG00000175600 succinyl-CoA:glutarate-CoA transferase SUGCT Russel-Silver syndrome candidate, chromosome 7 open reading frame 10, dermal papilla derived protein 13, succinate-hydroxymethylglutarate CoA-transferase C7orf10, DERP13, FLJ11808, ORF19 Yes Yes Ensembl:ENSG00000175600, GenAtlas:C7orf10, GeneCard:C7orf10, HGNC:HGNC:16001, HumanCyc Gene:HS10959, ModBase:Q9HAC7, NCBI Gene:79783, OMIM:609187, RefSeq DNA:NG_023422, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001180240, RefSeq Protein:NP_001180241, RefSeq Protein:NP_001180242, RefSeq Protein:NP_079004, RefSeq RNA:NM_001193311, RefSeq RNA:NM_001193312, RefSeq RNA:NM_001193313, RefSeq RNA:NM_024728, UCSC Genome Browser:NM_024728, UniProtKB:Q9HAC7 No chr7 40174575 40900366 40134887 40860767 +PA165394338 57794 HGNC:18643 ENSG00000105705 SURP and G-patch domain containing 1 SUGP1 SURP and G patch domain containing 1 DKFZp434E2216, F23858, RBP, SF4 Yes Yes Comparative Toxicogenomics Database:57794, Ensembl:ENSG00000105705, GeneCard:SUGP1, HGNC:HGNC:18643, HumanCyc Gene:HS02800, ModBase:Q8IWZ8, NCBI Gene:57794, OMIM:607992, RefSeq DNA:NT_011295, RefSeq Protein:NP_757386, RefSeq RNA:NM_172231, UniProtKB:Q8IWZ8 No chr19 19387320 19431321 19276513 19320512 +PA165394371 10147 HGNC:18641 ENSG00000064607 SURP and G-patch domain containing 2 SUGP2 SURP and G patch domain containing 2 KIAA0365, SFRS14 Yes No Comparative Toxicogenomics Database:10147, Ensembl:ENSG00000064607, GeneCard:SUGP2, HGNC:HGNC:18641, ModBase:Q8IX01, NCBI Gene:10147, OMIM:607993, RefSeq DNA:NT_011295, RefSeq Protein:NP_001017392, RefSeq Protein:NP_055699, RefSeq RNA:NM_001017392, RefSeq RNA:NM_014884, UniProtKB:A8K5G0, UniProtKB:Q8IX01 No chr19 19101697 19144861 18990887 19034052 +PA134880121 10910 HGNC:16987 ENSG00000165416 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone SUGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) SGT1 Yes No Comparative Toxicogenomics Database:10910, Ensembl:ENSG00000165416, GeneCard:SUGT1, HGNC:HGNC:16987, HumanCyc Gene:HS09228, ModBase:Q9Y2Z0, NCBI Gene:10910, OMIM:604098, RefSeq DNA:NT_024524, RefSeq Protein:NP_001124384, RefSeq Protein:NP_006695, RefSeq RNA:NM_001130912, RefSeq RNA:NM_006704, UniProtKB:Q9Y2Z0 No chr13 53226830 53262433 52652691 52700756 +PA134946357 441394 HGNC:19384 ENSG00000226823 suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 1 SUGT1P1 MGC15151, SGT1P, bA255A11.1 Yes No Ensembl:ENSG00000226823, HGNC:HGNC:19384, NCBI Gene:441394, RefSeq DNA:NT_008413, RefSeq Protein:XP_944473, RefSeq RNA:NR_003667, RefSeq RNA:XM_939380, RefSeq RNA:XR_000597 No chr9 33500754 33511164 33500756 33511166 +PA144596268 728706 HGNC:31377 ENSG00000213842 suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 2 SUGT1P2 Yes No Ensembl:ENSG00000213842, GeneCard:SUGT1P2, HGNC:HGNC:31377, NCBI Gene:728706, RefSeq DNA:NG_006446, RefSeq DNA:NT_022517 No chr3 32794322 32795412 32752830 32753920 +PA134992705 283507 HGNC:20513 ENSG00000239827 suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 3 SUGT1P3 Yes No Ensembl:ENSG00000239827, GeneCard:SUGT1P3, HGNC:HGNC:20513, NCBI Gene:283507, RefSeq DNA:NT_024524, RefSeq RNA:NR_003365 No chr13 41486023 41495910 40911887 40921774 +PA134861022 23213 HGNC:20391 ENSG00000137573 sulfatase 1 SULF1 Extracellular sulfatase Sulf-1 KIAA1077, SULF-1, hSulf-1 Yes No Comparative Toxicogenomics Database:23213, Ensembl:ENSG00000137573, GeneCard:SULF1, HGNC:HGNC:20391, HumanCyc Gene:HS11934, ModBase:Q8IWU6, NCBI Gene:23213, OMIM:610012, RefSeq DNA:NT_008183, RefSeq Protein:NP_001121676, RefSeq Protein:NP_001121677, RefSeq Protein:NP_001121678, RefSeq Protein:NP_055985, RefSeq RNA:NM_001128204, RefSeq RNA:NM_001128205, RefSeq RNA:NM_001128206, RefSeq RNA:NM_015170, UniProtKB:Q8IWU6 No chr8 70378859 70573147 69466624 69660912 +PA134902131 55959 HGNC:20392 ENSG00000196562 sulfatase 2 SULF2 HSULF-2, KIAA1247, SULF-2 Yes Yes Comparative Toxicogenomics Database:55959, Ensembl:ENSG00000196562, GeneCard:SULF2, HGNC:HGNC:20392, ModBase:Q8IWU5, NCBI Gene:55959, OMIM:610013, RefSeq DNA:NT_011362, RefSeq Protein:NP_001155313, RefSeq Protein:NP_061325, RefSeq Protein:NP_940998, RefSeq RNA:NM_001161841, RefSeq RNA:NM_018837, RefSeq RNA:NM_198596, UniProtKB:Q8IWU5 No chr20 46286150 46415360 47654584 47786629 +PA343 6817 HGNC:11453 ENSG00000196502 sulfotransferase family 1A member 1 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 P-PST, STP, STP1 Yes Yes Comparative Toxicogenomics Database:6817, Ensembl:ENSG00000196502, GenAtlas:SULT1A1, GeneCard:SULT1A1, HGNC:HGNC:11453, HumanCyc Gene:HS09898, ModBase:P50225, NCBI Gene:6817, OMIM:171150, RefSeq DNA:NT_010393, RefSeq Protein:NP_001046, RefSeq Protein:NP_803565, RefSeq Protein:NP_803566, RefSeq Protein:NP_803878, RefSeq Protein:NP_803880, RefSeq RNA:NM_001055, RefSeq RNA:NM_177529, RefSeq RNA:NM_177530, RefSeq RNA:NM_177534, RefSeq RNA:NM_177536, UCSC Genome Browser:NM_001055, UniProtKB:P50225 No chr16 28616908 28634907 28605587 28623586 +PA341 6799 HGNC:11454 ENSG00000197165 sulfotransferase family 1A member 2 SULT1A2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 HAST4, STP2 Yes Yes Comparative Toxicogenomics Database:6799, Ensembl:ENSG00000197165, GenAtlas:SULT1A2, GeneCard:SULT1A2, HGNC:HGNC:11454, HumanCyc Gene:HS11091, ModBase:P50226, NCBI Gene:6799, OMIM:601292, RefSeq DNA:NT_010393, RefSeq Protein:NP_001045, RefSeq Protein:NP_803564, RefSeq RNA:NM_001054, RefSeq RNA:NM_177528, UCSC Genome Browser:NM_001054, UniProtKB:P50226 No chr16 28603264 28611058 28591943 28597079 +PA344 6818 HGNC:11455 ENSG00000261052 sulfotransferase family 1A member 3 SULT1A3 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 STM, TL-PST Yes Yes Comparative Toxicogenomics Database:6818, Ensembl:ENSG00000261052, GenAtlas:SULT1A3, GeneCard:SULT1A3, HGNC:HGNC:11455, HumanCyc Gene:HS05608, HumanCyc Gene:HS11559, HumanCyc Gene:HS11637, NCBI Gene:6818, OMIM:600641, RefSeq DNA:NG_005305, RefSeq DNA:NT_010393, RefSeq Protein:NP_003157, RefSeq Protein:NP_808220, RefSeq RNA:NM_003166, RefSeq RNA:NM_177552, UCSC Genome Browser:NM_003166, UniProtKB:P50224, UniProtKB:Q1ET61 No chr16 30210549 30215650 30199228 30204329 +PA142670856 445329 HGNC:30004 ENSG00000213648 sulfotransferase family 1A member 4 SULT1A4 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4 Yes No Comparative Toxicogenomics Database:445329, Ensembl:ENSG00000213648, GeneCard:SULT1A4, HGNC:HGNC:30004, NCBI Gene:445329, RefSeq DNA:NG_005304, RefSeq DNA:NT_010393, RefSeq Protein:NP_001017389, RefSeq Protein:NP_001017390, RefSeq RNA:NM_001017389, RefSeq RNA:NM_001017390 No chr16 29471207 29476301 29459886 29464980 +PA415 27284 HGNC:17845 ENSG00000173597 sulfotransferase family 1B member 1 SULT1B1 sulfotransferase family, cytosolic, 1B, member 1 ST1B2 Yes No Comparative Toxicogenomics Database:27284, Ensembl:ENSG00000173597, GenAtlas:SULT1B1, GeneCard:SULT1B1, HGNC:HGNC:17845, HumanCyc Gene:HS10695, ModBase:O43704, NCBI Gene:27284, OMIM:608436, RefSeq DNA:NT_022778, RefSeq Protein:NP_055280, RefSeq RNA:NM_014465, UCSC Genome Browser:NM_014465, UniProtKB:O43704 No chr4 70591838 70626430 69726848 69760712 +PA164742557 6819 HGNC:11456 ENSG00000198203 sulfotransferase family 1C member 2 SULT1C2 sulfotransferase family, cytosolic, 1C, member 2 ST1C1, SULT1C1 Yes No Ensembl:ENSG00000198203, GeneCard:SULT1C2, HGNC:HGNC:11456, ModBase:O00338, NCBI Gene:6819, OMIM:602385, RefSeq DNA:NT_022171, RefSeq Protein:NP_001047, RefSeq Protein:NP_789795, RefSeq RNA:NM_001056, RefSeq RNA:NM_176825, UniProtKB:O00338 No chr2 108905095 108926371 108288639 108309915 +PA162405069 442038 HGNC:33543 ENSG00000196228 sulfotransferase family 1C member 3 SULT1C3 sulfotransferase family, cytosolic, 1C, member 3 Yes Yes Ensembl:ENSG00000196228, GeneCard:SULT1C3, HGNC:HGNC:33543, ModBase:Q6IMI6, NCBI Gene:442038, RefSeq DNA:NT_022171, RefSeq Protein:NP_001008743, RefSeq RNA:NM_001008743, UniProtKB:Q6IMI6 No chr2 108863651 108881807 108239992 108265608 +PA162405070 27233 HGNC:11457 ENSG00000198075 sulfotransferase family 1C member 4 SULT1C4 sulfotransferase family, cytosolic, 1C, member 4 SULT1C, SULT1C2 Yes Yes Ensembl:ENSG00000198075, GeneCard:SULT1C4, HGNC:HGNC:11457, HumanCyc Gene:HS10606, ModBase:O75897, NCBI Gene:27233, OMIM:608357, RefSeq DNA:NT_022171, RefSeq Protein:NP_006579, RefSeq RNA:NM_006588, UniProtKB:O75897 No chr2 108994413 109004296 108377911 108388989 +PA340 6783 HGNC:11377 ENSG00000109193 sulfotransferase family 1E member 1 SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 EST, STE Yes Yes Comparative Toxicogenomics Database:6783, Ensembl:ENSG00000109193, GenAtlas:SULT1E1, GeneCard:SULT1E1, HGNC:HGNC:11377, HumanCyc Gene:HS03210, ModBase:P49888, NCBI Gene:6783, OMIM:600043, RefSeq DNA:NT_022778, RefSeq Protein:NP_005411, RefSeq RNA:NM_005420, UCSC Genome Browser:NM_005420, UniProtKB:P49888, UniProtKB:Q53X91 No chr4 70706930 70725870 69841212 69860152 +PA346 6822 HGNC:11458 ENSG00000105398 sulfotransferase family 2A member 1 SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 DHEA-ST, STD Yes Yes Comparative Toxicogenomics Database:6822, Ensembl:ENSG00000105398, GenAtlas:SULT2A1, GeneCard:SULT2A1, HGNC:HGNC:11458, HumanCyc Gene:HS02732, ModBase:Q06520, NCBI Gene:6822, OMIM:125263, RefSeq DNA:NG_016745, RefSeq DNA:NT_011109, RefSeq Protein:NP_003158, RefSeq RNA:NM_003167, UCSC Genome Browser:NM_003167, UniProtKB:A8K015, UniProtKB:Q06520 No chr19 48373723 48389654 47870466 47886397 +PA36249 6820 HGNC:11459 ENSG00000088002 sulfotransferase family 2B member 1 SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 HSST2 Yes Yes Comparative Toxicogenomics Database:6820, Ensembl:ENSG00000088002, GenAtlas:SULT2B1, GeneCard:SULT2B1, HGNC:HGNC:11459, HumanCyc Gene:HS01587, ModBase:O00204, NCBI Gene:6820, OMIM:604125, RefSeq DNA:NT_011109, RefSeq Protein:NP_004596, RefSeq Protein:NP_814444, RefSeq RNA:NM_004605, RefSeq RNA:NM_177973, UCSC Genome Browser:NM_004605, UniProtKB:O00204 No chr19 49055429 49102684 48552172 48599427 +PA412 25830 HGNC:14903 ENSG00000130540 sulfotransferase family 4A member 1 SULT4A1 sulfotransferase family 4A, member 1 SULTX3, hBR-STL-1 Yes No Ensembl:ENSG00000130540, GenAtlas:SULT4A1, GeneCard:SULT4A1, HGNC:HGNC:14903, HumanCyc Gene:HS05401, ModBase:Q9BR01, NCBI Gene:25830, OMIM:608359, RefSeq DNA:NT_011520, RefSeq Protein:NP_055166, RefSeq RNA:NM_014351, UCSC Genome Browser:NM_014351, UniProtKB:Q9BR01 No chr22 44220387 44258378 43824507 43862498 +PA128505849 391365 HGNC:33433 ENSG00000138068 sulfotransferase family 6B member 1 SULT6B1 sulfotransferase family, cytosolic, 6B, member 1 Yes No Ensembl:ENSG00000138068, GeneCard:SULT6B1, HGNC:HGNC:33433, ModBase:Q6IMI4, NCBI Gene:391365, RefSeq DNA:NT_022184, RefSeq Protein:NP_001027549, RefSeq RNA:NM_001032377 No chr2 37394963 37423230 37167820 37188547 +PA134977552 285362 HGNC:20376 ENSG00000144455 sulfatase modifying factor 1 SUMF1 FGE, UNQ3037 Yes No Comparative Toxicogenomics Database:285362, Ensembl:ENSG00000144455, GeneCard:SUMF1, HGNC:HGNC:20376, ModBase:Q8NBK3, NCBI Gene:285362, OMIM:272200, OMIM:607939, RefSeq DNA:NG_016225, RefSeq DNA:NT_022517, RefSeq Protein:NP_001158146, RefSeq Protein:NP_001158147, RefSeq Protein:NP_877437, RefSeq RNA:NM_001164674, RefSeq RNA:NM_001164675, RefSeq RNA:NM_182760, UniProtKB:B4DXK5, UniProtKB:B7XD05, UniProtKB:Q0VAC6, UniProtKB:Q8NBK3 No chr3 4402829 4508966 4034714 4467282 +PA134921869 25870 HGNC:20415 ENSG00000129103 sulfatase modifying factor 2 SUMF2 DKFZp566I1024 Yes No Ensembl:ENSG00000129103, GeneCard:SUMF2, HGNC:HGNC:20415, HumanCyc Gene:HS05244, ModBase:Q8NBJ7, NCBI Gene:25870, OMIM:607940, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_001035934, RefSeq Protein:NP_001035935, RefSeq Protein:NP_001123541, RefSeq Protein:NP_001139805, RefSeq Protein:NP_056226, RefSeq RNA:NM_001042469, RefSeq RNA:NM_001042470, RefSeq RNA:NM_001130069, RefSeq RNA:NM_001146333, RefSeq RNA:NM_015411, UniProtKB:Q8NBJ7 No chr7 56131700 56148365 56064007 56080672 +PA37149 7341 HGNC:12502 ENSG00000116030 small ubiquitin like modifier 1 SUMO1 SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae), small ubiquitin-like modifier 1 GMP1, OFC10, PIC1, SMT3C, SMT3H3, SUMO-1, UBL1 Yes No Comparative Toxicogenomics Database:7341, Ensembl:ENSG00000116030, GenAtlas:SUMO1, GeneCard:SUMO1, HGNC:HGNC:12502, HumanCyc Gene:HS03971, ModBase:P63165, NCBI Gene:7341, OMIM:601912, RefSeq DNA:NG_011679, RefSeq DNA:NT_005403, RefSeq Protein:NP_001005781, RefSeq Protein:NP_001005782, RefSeq Protein:NP_003343, RefSeq RNA:NM_001005781, RefSeq RNA:NM_001005782, RefSeq RNA:NM_003352, UCSC Genome Browser:NM_003352, UniProtKB:A8MUS8, UniProtKB:P63165 No chr2 203070903 203103322 202206180 202238599 +PA37150 391257 HGNC:33148 ubiquitin-like 2 SUMO1P1 UBL6 Yes No GenAtlas:UBL2, GeneCard:UBL2, HGNC:HGNC:33148, NCBI Gene:391257 No chr20 52491037 52492248 53874498 53875709 +PA134914683 6613 HGNC:11125 ENSG00000188612 small ubiquitin like modifier 2 SUMO2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae), small ubiquitin-like modifier 2 SMT3B, SMT3H2 Yes No Ensembl:ENSG00000188612, GeneCard:SUMO2, HGNC:HGNC:11125, ModBase:P61956, NCBI Gene:6613, OMIM:603042, RefSeq DNA:NT_010783, RefSeq Protein:NP_001005849, RefSeq Protein:NP_008868, RefSeq RNA:NM_001005849, RefSeq RNA:NM_006937, UniProtKB:P61956 No chr17 73163825 73179098 75167730 75183003 +PA134958559 285829 HGNC:13985 ENSG00000235238 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 1 SUMO2P1 SMT3Bp, dJ271M21 Yes No Ensembl:ENSG00000235238, HGNC:HGNC:13985, NCBI Gene:285829, RefSeq DNA:NG_002750, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_113893 No chr6 29603231 29604281 29635454 29636504 +PA35973 6612 HGNC:11124 ENSG00000184900 small ubiquitin like modifier 3 SUMO3 SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae), small ubiquitin-like modifier 3 SMT3A, SMT3H1 Yes No Comparative Toxicogenomics Database:6612, Ensembl:ENSG00000184900, GenAtlas:SUMO3, GeneCard:SUMO3, HGNC:HGNC:11124, ModBase:P55854, NCBI Gene:6612, OMIM:602231, RefSeq DNA:NT_011515, RefSeq Protein:NP_008867, RefSeq RNA:NM_006936, UCSC Genome Browser:NM_006936, UniProtKB:P55854 No chr21 46225532 46238044 44805617 44818129 +PA134979206 387082 HGNC:21181 ENSG00000177688 small ubiquitin like modifier 4 SUMO4 SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae), small ubiquitin-like modifier 4 IDDM5, SMT3H4, dJ281H8.4 Yes Yes Comparative Toxicogenomics Database:387082, Ensembl:ENSG00000177688, GeneCard:SUMO4, HGNC:HGNC:21181, ModBase:Q6EEV6, NCBI Gene:387082, OMIM:600320, OMIM:608829, RefSeq DNA:NG_012301, RefSeq DNA:NT_025741, RefSeq Protein:NP_001002255, RefSeq RNA:NM_001002255, UniProtKB:Q6EEV6 No chr6 149721284 149722182 149400359 149401046 +PA165618311 23353 HGNC:18587 ENSG00000164828 Sad1 and UNC84 domain containing 1 SUN1 Sad1 unc-84 domain protein 1 FLJ12407, KIAA0810, UNC84A Yes No Ensembl:ENSG00000164828, GeneCard:SUN1, GeneCard:UNC84A, HGNC:HGNC:18587, HumanCyc Gene:HS09145, ModBase:O94901, NCBI Gene:23353, OMIM:607723, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001124437, RefSeq Protein:NP_001165415, RefSeq Protein:NP_001165416, RefSeq Protein:NP_001165417, RefSeq Protein:NP_079430, RefSeq RNA:NM_001130965, RefSeq RNA:NM_001171944, RefSeq RNA:NM_001171945, RefSeq RNA:NM_001171946, RefSeq RNA:NM_025154, UniProtKB:B4DZF7, UniProtKB:O94901 No chr7 855194 914557 815557 874920 +PA165378369 25777 HGNC:14210 ENSG00000100242 Sad1 and UNC84 domain containing 2 SUN2 UNC84B Yes No Comparative Toxicogenomics Database:25777, Ensembl:ENSG00000100242, GeneCard:SUN2, HGNC:HGNC:14210, HumanCyc Gene:HS02014, ModBase:Q9UH99, NCBI Gene:25777, RefSeq DNA:NT_011520, RefSeq Protein:NP_001186508, RefSeq Protein:NP_001186509, RefSeq Protein:NP_056189, RefSeq RNA:NM_001199579, RefSeq RNA:NM_001199580, RefSeq RNA:NM_015374, UniProtKB:Q9UH99 No chr22 39130719 39162338 38734714 38756019 +PA165618375 256979 HGNC:22429 ENSG00000164744 Sad1 and UNC84 domain containing 3 SUN3 MGC33329, SUNC1 Yes No Ensembl:ENSG00000164744, GeneCard:SUN3, HGNC:HGNC:22429, HumanCyc Gene:HS15236, ModBase:Q8TAQ9, NCBI Gene:256979, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001025190, RefSeq Protein:NP_689995, RefSeq RNA:NM_001030019, RefSeq RNA:NM_152782, UniProtKB:Q8TAQ9 No chr7 48026745 48068724 47987148 48035899 +PA38095 140732 HGNC:16252 ENSG00000167098 Sad1 and UNC84 domain containing 5 SUN5 testis and spermatogenesis related gene 4 SPAG4L, TSARG4, dJ726C3.1 Yes No Comparative Toxicogenomics Database:140732, Ensembl:ENSG00000167098, GenAtlas:SPAG4L, GeneCard:SPAG4L, GeneCard:SUN5, HGNC:HGNC:16252, HumanCyc Gene:HS15518, ModBase:Q8TC36, NCBI Gene:140732, RefSeq DNA:NT_011362, RefSeq DNA:NT_028392, RefSeq Protein:NP_542406, RefSeq RNA:NM_080675, UCSC Genome Browser:NM_080675, UniProtKB:Q8TC36 No chr20 31571579 31592239 32983773 33004449 +PA36250 6821 HGNC:11460 ENSG00000139531 sulfite oxidase SUOX Yes No Comparative Toxicogenomics Database:6821, Ensembl:ENSG00000139531, GenAtlas:SUOX, GeneCard:SUOX, HGNC:HGNC:11460, HumanCyc Gene:HS06627, ModBase:P51687, NCBI Gene:6821, OMIM:272300, OMIM:606887, RefSeq DNA:NG_008136, RefSeq DNA:NT_029419, RefSeq Protein:NP_000447, RefSeq Protein:NP_001027558, RefSeq Protein:NP_001027559, RefSeq RNA:NM_000456, RefSeq RNA:NM_001032386, RefSeq RNA:NM_001032387, UCSC Genome Browser:NM_000456, UniProtKB:P51687 No chr12 56391043 56399309 55996776 56005525 +PA36251 11198 HGNC:11465 ENSG00000092201 SPT16 homolog, facilitates chromatin remodeling subunit SUPT16H facilitates chromatin remodeling 140 kDa subunit, suppressor of Ty 16 homolog (S. cerevisiae) CDC68, FACT, FACTP140, FLJ10857, FLJ14010, SPT16/CDC68 Yes No Ensembl:ENSG00000092201, GenAtlas:SUPT16H, GeneCard:SUPT16H, HGNC:HGNC:11465, HumanCyc Gene:HS01763, ModBase:Q9Y5B9, NCBI Gene:11198, OMIM:605012, RefSeq DNA:NG_009932, RefSeq DNA:NT_026437, RefSeq Protein:NP_009123, RefSeq RNA:NM_007192, UCSC Genome Browser:NM_007192, UniProtKB:Q9Y5B9 No chr14 21819631 21852425 21351472 21384266 +PA134985241 55578 HGNC:20596 ENSG00000102710 SPT20 homolog, SAGA complex component SUPT20H p38 interacting protein, suppressor of Ty 20 homolog (S. cerevisiae), transcription factor (p38 interacting protein) C13orf19, FAM48A, P38IP, SPT20, bA421P11.4 Yes No Comparative Toxicogenomics Database:55578, Ensembl:ENSG00000102710, GeneCard:FAM48A, HGNC:HGNC:20596, HumanCyc Gene:HS12490, NCBI Gene:55578, OMIM:613417, RefSeq DNA:NT_024524, RefSeq Protein:NP_001014308, RefSeq Protein:NP_060039, RefSeq RNA:NM_001014286, RefSeq RNA:NM_017569, UniProtKB:Q8NEM7 No chr13 37583449 37633850 37009312 37059714 +PA134971476 100130302 HGNC:30773 ENSG00000223731 SUPT20H like 1 SUPT20HL1 similar to transcription factor (p38 interacting protein), suppressor of Ty 20 homolog (S. cerevisiae)-like 1 FAM48B1, SPT20L Yes No Ensembl:ENSG00000223731, GeneCard:FAM48B1, HGNC:HGNC:30773, NCBI Gene:100130302, RefSeq DNA:NT_167197, RefSeq Protein:NP_001129706, RefSeq RNA:NM_001136234 No chrX 24380503 24383557 24362761 24365424 +PA134896852 170067 HGNC:31797 ENSG00000223611 SUPT20H like 2 SUPT20HL2 suppressor of Ty 20 homolog (S. cerevisiae)-like 2 FAM48B2 Yes No Ensembl:ENSG00000223611, GeneCard:FAM48B2, HGNC:HGNC:31797, NCBI Gene:170067, RefSeq DNA:NT_167197, RefSeq Protein:NP_001129705, RefSeq RNA:NM_001136233, UniProtKB:P0C7V6 No chrX 24328532 24332202 24310862 24313315 +PA36252 8464 HGNC:11466 ENSG00000196284 SPT3 homolog, SAGA and STAGA complex component SUPT3H suppressor of Ty 3 homolog (S. cerevisiae) SPT3, SPT3L Yes No Ensembl:ENSG00000196284, GenAtlas:SUPT3H, GeneCard:SUPT3H, HGNC:HGNC:11466, HumanCyc Gene:HS10505, NCBI Gene:8464, OMIM:602947, RefSeq DNA:NT_007592, RefSeq Protein:NP_003590, RefSeq Protein:NP_852001, RefSeq RNA:NM_003599, RefSeq RNA:NM_181356, UCSC Genome Browser:NM_003599, UniProtKB:O75486 No chr6 44794467 45345788 44808844 45378051 +PA36253 6827 HGNC:11467 ENSG00000213246 SPT4 homolog, DSIF elongation factor subunit SUPT4H1 suppressor of Ty 4 homolog 1 (S. cerevisiae) SPT4H, SUPT4H, Spt4, Supt4a Yes No Comparative Toxicogenomics Database:6827, Ensembl:ENSG00000213246, GenAtlas:SUPT4H1, GeneCard:SUPT4H1, HGNC:HGNC:11467, ModBase:P63272, NCBI Gene:6827, OMIM:603555, RefSeq DNA:NT_010783, RefSeq Protein:NP_003159, RefSeq RNA:NM_003168, UCSC Genome Browser:NM_003168, UniProtKB:P63272 No chr17 56422536 56429599 58345175 58352238 +PA36255 6829 HGNC:11469 ENSG00000196235 SPT5 homolog, DSIF elongation factor subunit SUPT5H suppressor of Ty 5 homolog (S. cerevisiae) FLJ34157, SPT5, SPT5H Yes No Comparative Toxicogenomics Database:6829, Ensembl:ENSG00000196235, GenAtlas:SUPT5H, GeneCard:SUPT5H, HGNC:HGNC:11469, ModBase:O00267, NCBI Gene:6829, OMIM:602102, RefSeq DNA:NT_011109, RefSeq Protein:NP_001104490, RefSeq Protein:NP_001124296, RefSeq Protein:NP_001124297, RefSeq Protein:NP_003160, RefSeq RNA:NM_001111020, RefSeq RNA:NM_001130824, RefSeq RNA:NM_001130825, RefSeq RNA:NM_003169, UCSC Genome Browser:NM_003169, UniProtKB:O00267 No chr19 39936186 39967310 39445546 39476670 +PA36256 6830 HGNC:11470 ENSG00000109111 SPT6 homolog, histone chaperone and transcription elongation factor SUPT6H """SPT6 homolog, histone chaperone"", ""suppressor of Ty 6 homolog (S. cerevisiae)""" KIAA0162, SPT6H Yes No Comparative Toxicogenomics Database:6830, Ensembl:ENSG00000109111, GenAtlas:SUPT6H, GeneCard:SUPT6H, HGNC:HGNC:11470, HumanCyc Gene:HS03201, ModBase:Q9BTH9, NCBI Gene:6830, OMIM:601333, RefSeq DNA:NT_010799, RefSeq Protein:NP_003161, RefSeq RNA:NM_003170, UCSC Genome Browser:NM_003170, UniProtKB:Q7KZ85 No chr17 26989221 27029255 28662183 28702684 +PA142670854 9913 HGNC:30632 ENSG00000119760 SPT7 like, STAGA complex subunit gamma SUPT7L """SPT7 like, STAGA complex gamma subunit"", ""suppressor of Ty 7 (S. cerevisiae)-like""" KIAA0764, SPT7L, STAF65, STAF65gamma, gamma Yes No Ensembl:ENSG00000119760, GeneCard:SUPT7L, HGNC:HGNC:30632, HumanCyc Gene:HS04336, ModBase:O94864, NCBI Gene:9913, OMIM:612762, RefSeq DNA:NT_022184, RefSeq Protein:NP_055675, RefSeq RNA:NM_014860, UniProtKB:O94864 No chr2 27873679 27886707 27642568 27663840 +PA36257 6832 HGNC:11471 ENSG00000156502 Suv3 like RNA helicase SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae) SUV3 Yes No Ensembl:ENSG00000156502, GenAtlas:SUPV3L1, GeneCard:SUPV3L1, HGNC:HGNC:11471, HumanCyc Gene:HS08133, ModBase:Q8IYB8, NCBI Gene:6832, OMIM:605122, RefSeq DNA:NT_030059, RefSeq Protein:NP_003162, RefSeq RNA:NM_003171, UCSC Genome Browser:NM_003171, UniProtKB:Q8IYB8 No chr10 70939993 70968854 69180204 69209098 +PA36259 6834 HGNC:11474 ENSG00000148290 SURF1 cytochrome c oxidase assembly factor SURF1 """SURF1, cytochrome c oxidase assembly factor"", ""surfeit 1"", ""surfeit locus protein 1""" SHY1 Yes No Comparative Toxicogenomics Database:6834, Ensembl:ENSG00000148290, GenAtlas:SURF1, GeneCard:SURF1, HGNC:HGNC:11474, HumanCyc Gene:HS07506, NCBI Gene:6834, OMIM:185620, OMIM:256000, RefSeq DNA:NG_000837, RefSeq DNA:NG_008477, RefSeq DNA:NT_035014, RefSeq Protein:NP_003163, RefSeq RNA:NM_003172, UCSC Genome Browser:NM_003172, UniProtKB:Q15526 No chr9 136218660 136223361 133351805 133356485 +PA36260 6835 HGNC:11475 ENSG00000148291 surfeit 2 SURF2 surfeit locus protein 2 Yes No Ensembl:ENSG00000148291, GenAtlas:SURF2, GeneCard:SURF2, HGNC:HGNC:11475, HumanCyc Gene:HS07507, NCBI Gene:6835, OMIM:185630, RefSeq DNA:NG_000837, RefSeq DNA:NT_035014, RefSeq Protein:NP_059973, RefSeq RNA:NM_017503, UCSC Genome Browser:NM_017503, UniProtKB:Q15527 No chr9 136223421 136228041 133356545 133361165 +PA36261 6836 HGNC:11476 ENSG00000148248 surfeit 4 SURF4 surface 4 integral membrane protein, surfeit locus protein 4 ERV29, FLJ22993, MGC102753 Yes No Comparative Toxicogenomics Database:6836, Ensembl:ENSG00000148248, GenAtlas:SURF4, GeneCard:SURF4, HGNC:HGNC:11476, HumanCyc Gene:HS07504, ModBase:O15260, NCBI Gene:6836, OMIM:185660, RefSeq DNA:NG_000837, RefSeq DNA:NT_035014, RefSeq Protein:NP_149351, RefSeq RNA:NM_033161, UCSC Genome Browser:NM_033161, UniProtKB:O15260 No chr9 136228325 136244820 133361449 133377949 +PA36263 6838 HGNC:11478 ENSG00000148296 surfeit 6 SURF6 surfeit locus protein 6 FLJ30322, RRP14 Yes No Comparative Toxicogenomics Database:6838, Ensembl:ENSG00000148296, GenAtlas:SURF6, GeneCard:SURF6, HGNC:HGNC:11478, HumanCyc Gene:HS07508, ModBase:O75683, NCBI Gene:6838, OMIM:185642, RefSeq DNA:NG_000837, RefSeq DNA:NT_035014, RefSeq Protein:NP_006744, RefSeq RNA:NM_006753, UCSC Genome Browser:NM_006753, UniProtKB:O75683 No chr9 136197543 136203047 133330707 133336210 +PA134935587 64420 HGNC:25413 ENSG00000106868 sushi domain containing 1 SUSD1 DKFZP761E1824 Yes No Ensembl:ENSG00000106868, GeneCard:SUSD1, HGNC:HGNC:25413, HumanCyc Gene:HS02960, ModBase:Q9NTA7, NCBI Gene:64420, RefSeq DNA:NT_008470, RefSeq Protein:NP_071931, RefSeq RNA:NM_022486, UniProtKB:Q6UWL2 No chr9 114803061 114937577 112040781 112175520 +PA134942464 56241 HGNC:30667 ENSG00000099994 sushi domain containing 2 SUSD2 BK65A6.2, FLJ22778, W5C5 Yes No Comparative Toxicogenomics Database:56241, Ensembl:ENSG00000099994, GeneCard:SUSD2, HGNC:HGNC:30667, HumanCyc Gene:HS01947, ModBase:Q9UGT4, NCBI Gene:56241, RefSeq DNA:NT_011520, RefSeq Protein:NP_062547, RefSeq RNA:NM_019601, UniProtKB:Q9UGT4 No chr22 24577444 24585074 24181476 24189106 +PA128394766 203328 HGNC:28391 ENSG00000157303 sushi domain containing 3 SUSD3 MGC26847 Yes Yes Comparative Toxicogenomics Database:203328, Ensembl:ENSG00000157303, GeneCard:SUSD3, HGNC:HGNC:28391, HumanCyc Gene:HS14654, ModBase:Q96L08, NCBI Gene:203328, RefSeq DNA:NT_008470, RefSeq Protein:NP_659443, RefSeq RNA:NM_145006, UCSC Genome Browser:NM_145006, UniProtKB:Q96L08 No chr9 95820989 95847420 93058688 93085138 +PA142670855 55061 HGNC:25470 ENSG00000143502 sushi domain containing 4 SUSD4 FLJ10052 Yes No Comparative Toxicogenomics Database:55061, Ensembl:ENSG00000143502, GeneCard:SUSD4, HGNC:HGNC:25470, HumanCyc Gene:HS13972, ModBase:Q5VX71, NCBI Gene:55061, RefSeq DNA:NT_167186, RefSeq Protein:NP_001032252, RefSeq Protein:NP_060452, RefSeq RNA:NM_001037175, RefSeq RNA:NM_017982, UniProtKB:B3KTY0, UniProtKB:Q5VX71 No chr1 223394161 223537564 223220819 223364240 +PA143485627 26032 HGNC:29061 ENSG00000173705 sushi domain containing 5 SUSD5 KIAA0527 Yes No Comparative Toxicogenomics Database:26032, Ensembl:ENSG00000173705, GeneCard:SUSD5, HGNC:HGNC:29061, ModBase:O60279, NCBI Gene:26032, RefSeq DNA:NT_022517, RefSeq Protein:NP_056366, RefSeq RNA:NM_015551, UniProtKB:O60279 No chr3 33191537 33260707 33150041 33219215 +PA128394557 9766 HGNC:19956 ENSG00000100647 sushi domain containing 6 SUSD6 KIAA0247 Yes No Comparative Toxicogenomics Database:9766, Ensembl:ENSG00000100647, GeneCard:KIAA0247, HGNC:HGNC:19956, HumanCyc Gene:HS02129, ModBase:Q92537, NCBI Gene:9766, RefSeq DNA:NT_026437, RefSeq Protein:NP_055549, RefSeq RNA:NM_014734, UCSC Genome Browser:NM_014734, UniProtKB:Q92537 No chr14 70078310 70181861 69611593 69715144 +PA36264 6839 HGNC:11479 ENSG00000101945 SUV39H1 histone lysine methyltransferase SUV39H1 suppressor of variegation 3-9 homolog 1, suppressor of variegation 3-9 homolog 1 (Drosophila) KMT1A, SUV39H Yes No Ensembl:ENSG00000101945, GenAtlas:SUV39H1, GeneCard:SUV39H1, HGNC:HGNC:11479, HumanCyc Gene:HS02321, ModBase:O43463, NCBI Gene:6839, OMIM:300254, RefSeq DNA:NG_012530, RefSeq DNA:NT_079573, RefSeq Protein:NP_003164, RefSeq RNA:NM_003173, UCSC Genome Browser:NM_003173, UniProtKB:O43463 No chrX 48553945 48567407 48695554 48709016 +PA134868807 79723 HGNC:17287 ENSG00000152455 SUV39H2 histone lysine methyltransferase SUV39H2 histone methyltransferase SUV39H2, suppressor of variegation 3-9 homolog 2, suppressor of variegation 3-9 homolog 2 (Drosophila) FLJ23414, KMT1B Yes No Ensembl:ENSG00000152455, GeneCard:SUV39H2, HGNC:HGNC:17287, HumanCyc Gene:HS07820, ModBase:Q9H5I1, NCBI Gene:79723, OMIM:606503, RefSeq DNA:NT_008705, RefSeq Protein:NP_001180353, RefSeq Protein:NP_001180354, RefSeq Protein:NP_001180355, RefSeq Protein:NP_001180356, RefSeq Protein:NP_078946, RefSeq RNA:NM_001193424, RefSeq RNA:NM_001193425, RefSeq RNA:NM_001193426, RefSeq RNA:NM_001193427, RefSeq RNA:NM_024670, RefSeq RNA:NR_034181, UniProtKB:Q9H5I1 No chr10 14920782 14946314 14878783 14904315 +PA134936035 23512 HGNC:17101 ENSG00000178691 SUZ12 polycomb repressive complex 2 subunit SUZ12 """SUZ12 polycomb repressive complex 2 subunit"", ""SUZ12, polycomb repressive complex 2 subunit"", ""suppressor of zeste 12 homolog (Drosophila)""" CHET9, JJAZ1, KIAA0160 Yes No Comparative Toxicogenomics Database:23512, Ensembl:ENSG00000178691, GeneCard:SUZ12, HGNC:HGNC:17101, HumanCyc Gene:HS17106, NCBI Gene:23512, OMIM:606245, RefSeq DNA:NG_009237, RefSeq DNA:NT_010799, RefSeq Protein:NP_056170, RefSeq RNA:NM_015355, UniProtKB:A8K1U9, UniProtKB:Q15022 No chr17 30264044 30328057 31937010 32001045 +PA142670847 440423 HGNC:32421 ENSG00000264538 suppressor of zeste 12 homolog pseudogene 1 SUZ12P1 Yes No Ensembl:ENSG00000264538, GeneCard:SUZ12P1, HGNC:HGNC:32421, NCBI Gene:440423, RefSeq DNA:NT_010799, RefSeq RNA:NR_024187 No chr17 29036626 29097068 30709608 30770050 +PA128394564 9900 HGNC:20566 ENSG00000159164 synaptic vesicle glycoprotein 2A SV2A solute carrier family 22 member B1 KIAA0736, SLC22B1, SV2 Yes No Ensembl:ENSG00000159164, GeneCard:SV2A, HGNC:HGNC:20566, HumanCyc Gene:HS08361, ModBase:Q7L0J3, NCBI Gene:9900, OMIM:185860, RefSeq DNA:NT_004487, RefSeq Protein:NP_055664, RefSeq RNA:NM_014849, UCSC Genome Browser:NM_014849, UniProtKB:Q7L0J3 No chr1 149874870 149889434 149903318 149917882 +PA134930999 9899 HGNC:16874 ENSG00000185518 synaptic vesicle glycoprotein 2B SV2B solute carrier family 22 member B2 HsT19680, KIAA0735, SLC22B2 Yes No Comparative Toxicogenomics Database:9899, Ensembl:ENSG00000185518, GeneCard:SV2B, HGNC:HGNC:16874, ModBase:Q7L1I2, NCBI Gene:9899, OMIM:185861, RefSeq DNA:NT_010274, RefSeq Protein:NP_001161052, RefSeq Protein:NP_055663, RefSeq Protein:XP_001720640, RefSeq Protein:XP_001722089, RefSeq Protein:XP_001722099, RefSeq RNA:NM_001167580, RefSeq RNA:NM_014848, RefSeq RNA:XM_001720588, RefSeq RNA:XM_001722037, RefSeq RNA:XM_001722047, UniProtKB:B4DH30, UniProtKB:Q7L1I2 No chr15 91642996 91844539 91099588 91301309 +PA134888452 22987 HGNC:30670 ENSG00000122012 synaptic vesicle glycoprotein 2C SV2C solute carrier family 22 member B3 SLC22B3 Yes Yes Ensembl:ENSG00000122012, GeneCard:SV2C, HGNC:HGNC:30670, ModBase:Q496J9, NCBI Gene:22987, OMIM:610291, RefSeq DNA:NT_006713, RefSeq Protein:NP_055794, RefSeq RNA:NM_014979 No chr5 75378997 75649764 75847463 76353939 +PA142672181 374969 HGNC:29204 ENSG00000177868 small vasohibin binding protein SVBP coiled-coil domain containing 23 CCDC23, MGC45441 Yes No Ensembl:ENSG00000177868, GeneCard:CCDC23, HGNC:HGNC:29204, NCBI Gene:374969, RefSeq DNA:NT_032977, RefSeq Protein:NP_955374, RefSeq RNA:NM_199342, UniProtKB:Q8N300 No chr1 43272723 43283059 42807052 42817388 +PA25971 79987 HGNC:15985 ENSG00000165124 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 SVEP1 C9orf13, FLJ13529, POLYDOM, bA427L11.3 Yes No Comparative Toxicogenomics Database:79987, Ensembl:ENSG00000165124, GenAtlas:SVEP1, GeneCard:SVEP1, HGNC:HGNC:15985, NCBI Gene:79987, OMIM:611691, RefSeq DNA:NT_008470, RefSeq Protein:NP_699197, RefSeq RNA:NM_153366, UniProtKB:B3KQM1, UniProtKB:Q4LDE5 No chr9 113127528 113342160 110365248 110579880 +PA36265 6840 HGNC:11480 ENSG00000197321 supervillin SVIL archvillin Yes No Comparative Toxicogenomics Database:6840, Ensembl:ENSG00000197321, GenAtlas:SVIL, GeneCard:SVIL, HGNC:HGNC:11480, ModBase:O95425, NCBI Gene:6840, OMIM:604126, RefSeq DNA:NT_008705, RefSeq Protein:NP_003165, RefSeq Protein:NP_068506, RefSeq RNA:NM_003174, RefSeq RNA:NM_021738, UCSC Genome Browser:NM_003174, UniProtKB:O95425, UniProtKB:Q569J5 No chr10 29746274 30025864 29457338 29737001 +PA164726394 258010 HGNC:25238 ENSG00000198168 small VCP interacting protein SVIP small VCP/p97-interacting protein DKFZp313A2432 Yes No Ensembl:ENSG00000198168, GeneCard:SVIP, HGNC:HGNC:25238, NCBI Gene:258010, RefSeq DNA:NT_009237, RefSeq Protein:NP_683691, RefSeq RNA:NM_148893, UniProtKB:Q8NHG7 No chr11 22843598 22851382 22820263 22829862 +PA142670848 55530 HGNC:25417 ENSG00000166111 SV2 related protein SVOP SV2 related protein homolog (rat), solute carrier family 22 member B4 DKFZp761H039, SLC22B4 Yes No Ensembl:ENSG00000166111, GeneCard:SVOP, HGNC:HGNC:25417, HumanCyc Gene:HS09331, ModBase:Q8N4V2, NCBI Gene:55530, OMIM:611699, RefSeq DNA:NT_029419, RefSeq Protein:NP_061181, RefSeq RNA:NM_018711, UniProtKB:Q8N4V2 No chr12 109304658 109372453 108908129 109021240 +PA162405089 136306 HGNC:27034 ENSG00000157703 SVOP like SVOPL SVOP-like, solute carrier family 22 member B5 MGC46715, SLC22B5 Yes No Ensembl:ENSG00000157703, GeneCard:SVOPL, HGNC:HGNC:27034, NCBI Gene:136306, OMIM:611700, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001132928, RefSeq Protein:NP_777619, RefSeq RNA:NM_001139456, RefSeq RNA:NM_174959, UniProtKB:Q8N434 No chr7 138279030 138385969 138591689 138701547 +PA165543694 23075 HGNC:17070 ENSG00000133789 switching B cell complex subunit SWAP70 SWAP70 SWAP switching B-cell complex 70kDa subunit, switch-associated protein 70 KIAA0640, SWAP-70 Yes No Ensembl:ENSG00000133789, GeneCard:SWAP70, HGNC:HGNC:17070, NCBI Gene:23075, OMIM:604762, RefSeq DNA:NT_009237, RefSeq Protein:NP_055870, RefSeq RNA:NM_015055, UniProtKB:Q9UH65 No chr11 9685624 9774508 9664077 9752991 +PA134903574 375757 HGNC:31412 ENSG00000175854 SWI5 homologous recombination repair protein SWI5 SWI5 recombination repair homolog (yeast) C9orf119, SAE3, bA395P17.9 Yes No Ensembl:ENSG00000175854, GeneCard:C9orf119, HGNC:HGNC:31412, ModBase:Q1ZZU3, NCBI Gene:375757, RefSeq DNA:NT_008470, RefSeq Protein:NP_001035100, RefSeq RNA:NM_001040011, UniProtKB:Q1ZZU3 No chr9 131037663 131051268 128275379 128288989 +PA144596472 126074 HGNC:26638 ENSG00000173928 SWIM-type zinc finger 7 associated protein 1 SWSAP1 """SWS1-associated protein 1"", ""zinc finger, SWIM-type containing 7 associated protein 1""" C19orf39, FLJ35119, SWS1AP1, ZSWIM7AP1 Yes No Ensembl:ENSG00000173928, GeneCard:C19orf39, HGNC:HGNC:26638, NCBI Gene:126074, RefSeq DNA:NT_011295, RefSeq Protein:NP_787067, RefSeq RNA:NM_175871, UniProtKB:Q6NVH7 No chr19 11485383 11487627 11374707 11376951 +PA25613 54823 HGNC:16785 ENSG00000116668 SWT1 RNA endoribonuclease homolog SWT1 """SWT1 RNA endoribonuclease homolog (S. cerevisiae)"", ""SWT1, RNA endoribonuclease homolog""" C1orf26, FLJ20121, HsSwt1 Yes No Ensembl:ENSG00000116668, GenAtlas:C1orf26, GeneCard:C1orf26, HGNC:HGNC:16785, HumanCyc Gene:HS12873, ModBase:Q5T5J6, NCBI Gene:54823, RefSeq DNA:NT_004487, RefSeq Protein:NP_001098988, RefSeq Protein:NP_060143, RefSeq RNA:NM_001105518, RefSeq RNA:NM_017673, UCSC Genome Browser:NM_017673, UniProtKB:B3KXU9, UniProtKB:Q5T5J6 No chr1 185126155 185260913 185157023 185291781 +PA38107 94056 HGNC:16273 ENSG00000169895 synapse associated protein 1 SYAP1 SAP47 homolog (Drosophila) FLJ14495, PRO3113 Yes No Ensembl:ENSG00000169895, GenAtlas:SYAP1, GeneCard:SYAP1, HGNC:HGNC:16273, HumanCyc Gene:HS15825, ModBase:Q96A49, NCBI Gene:94056, RefSeq DNA:NG_016374, RefSeq DNA:NT_167197, RefSeq Protein:NP_116185, RefSeq RNA:NM_032796, RefSeq RNA:NR_033181, UCSC Genome Browser:NM_032796, UniProtKB:Q96A49 No chrX 16737707 16780807 16719584 16762684 +PA165586000 55638 HGNC:26011 ENSG00000147642 syntabulin SYBU syntabulin (syntaxin-interacting), syntaphilin-like FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL Yes No Ensembl:ENSG00000147642, GeneCard:SYBU, HGNC:HGNC:26011, HumanCyc Gene:HS07459, NCBI Gene:55638, OMIM:611568, RefSeq DNA:NT_008046, RefSeq Protein:NP_001093213, RefSeq Protein:NP_001093214, RefSeq Protein:NP_001093215, RefSeq Protein:NP_001093216, RefSeq Protein:NP_001093217, RefSeq Protein:NP_001093218, RefSeq Protein:NP_001093219, RefSeq Protein:NP_001093220, RefSeq Protein:NP_001093221, RefSeq Protein:NP_001093222, RefSeq Protein:NP_001093223, RefSeq Protein:NP_001093224, RefSeq Protein:NP_001093225, RefSeq Protein:NP_001093226, RefSeq Protein:NP_060256, RefSeq RNA:NM_001099743, RefSeq RNA:NM_001099744, RefSeq RNA:NM_001099745, RefSeq RNA:NM_001099746, RefSeq RNA:NM_001099747, RefSeq RNA:NM_001099748, RefSeq RNA:NM_001099749, RefSeq RNA:NM_001099750, RefSeq RNA:NM_001099751, RefSeq RNA:NM_001099752, RefSeq RNA:NM_001099753, RefSeq RNA:NM_001099754, RefSeq RNA:NM_001099755, RefSeq RNA:NM_001099756, RefSeq RNA:NM_017786, UniProtKB:B3KU61, UniProtKB:Q9NX95 No chr8 110586405 110704020 109574176 109691791 +PA134876767 93426 HGNC:28852 ENSG00000171772 synaptonemal complex central element protein 1 SYCE1 cancer/testis antigen 76 C10orf94, CT76, bA108K14.6 Yes No Ensembl:ENSG00000171772, GeneCard:SYCE1, HGNC:HGNC:28852, HumanCyc Gene:HS16020, NCBI Gene:93426, OMIM:611486, RefSeq DNA:NT_008818, RefSeq Protein:NP_001137235, RefSeq Protein:NP_001137236, RefSeq Protein:NP_570140, RefSeq RNA:NM_001143763, RefSeq RNA:NM_001143764, RefSeq RNA:NM_130784, UniProtKB:Q8N0S2 No chr10 135367404 135381795 133553900 133568291 +PA165450704 100130958 HGNC:37236 ENSG00000205078 synaptonemal complex central element protein 1 like SYCE1L meiosis-related protein, synaptonemal complex central element protein 1-like MRP2 Yes No Ensembl:ENSG00000205078, GeneCard:SYCE1L, HGNC:HGNC:37236, NCBI Gene:100130958, RefSeq DNA:NT_010498, RefSeq Protein:NP_001123451, RefSeq RNA:NM_001129979 No chr16 77233349 77246976 77199452 77213079 +PA142670849 256126 HGNC:27411 ENSG00000161860 synaptonemal complex central element protein 2 SYCE2 central element synaptonemal complex 1 CESC1 Yes No Comparative Toxicogenomics Database:256126, Ensembl:ENSG00000161860, GeneCard:SYCE2, HGNC:HGNC:27411, NCBI Gene:256126, OMIM:611487, RefSeq DNA:NT_011295, RefSeq Protein:NP_001099048, RefSeq RNA:NM_001105578, UniProtKB:Q6PIF2 No chr19 13009894 13030116 12898229 12919674 +PA164717081 644186 HGNC:35245 ENSG00000217442 synaptonemal complex central element protein 3 SYCE3 testis highly expressed protein 2 C22orf41 Yes No Ensembl:ENSG00000217442, GeneCard:SYCE3, HGNC:HGNC:35245, NCBI Gene:644186, RefSeq DNA:NT_011526, RefSeq Protein:NP_001116697, RefSeq RNA:NM_001123225, UniProtKB:A1L190 No chr22 50989541 51001328 50551112 50562899 +PA142670850 342898 HGNC:18442 ENSG00000179751 syncollin SYCN FLJ27441, INSSA1, SYL Yes No Comparative Toxicogenomics Database:342898, Ensembl:ENSG00000179751, GeneCard:SYCN, HGNC:HGNC:18442, ModBase:Q0VAF6, NCBI Gene:342898, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073937, RefSeq RNA:NM_001080468, UniProtKB:Q0VAF6 No chr19 39693562 39694906 39202922 39204266 +PA36269 6847 HGNC:11487 ENSG00000198765 synaptonemal complex protein 1 SYCP1 cancer/testis antigen 8 CT8, HOM-TES-14, SCP1 Yes No Comparative Toxicogenomics Database:6847, Ensembl:ENSG00000198765, GenAtlas:SYCP1, GeneCard:SYCP1, HGNC:HGNC:11487, ModBase:Q15431, NCBI Gene:6847, OMIM:602162, RefSeq DNA:NT_032977, RefSeq Protein:NP_003167, RefSeq RNA:NM_003176, UCSC Genome Browser:NM_003176, UniProtKB:Q15431 No chr1 115397455 115537991 114854268 114995370 +PA36272 10388 HGNC:11490 ENSG00000196074 synaptonemal complex protein 2 SYCP2 SCP2 Yes No Ensembl:ENSG00000196074, GenAtlas:SYCP2, GeneCard:SYCP2, HGNC:HGNC:11490, ModBase:Q9BX26, NCBI Gene:10388, OMIM:604105, RefSeq DNA:NT_011362, RefSeq Protein:NP_055073, RefSeq RNA:NM_014258, UCSC Genome Browser:NM_014258, UniProtKB:Q8IWA1, UniProtKB:Q9BX26 No chr20 58438612 58508704 59863277 59933700 +PA162405118 221711 HGNC:21537 ENSG00000153157 synaptonemal complex protein 2 like SYCP2L synaptonemal complex protein 2-like C6orf177, NO145, dJ62D2.1 Yes No Ensembl:ENSG00000153157, GeneCard:SYCP2L, HGNC:HGNC:21537, NCBI Gene:221711, RefSeq DNA:NT_007592, RefSeq Protein:NP_001035364, RefSeq RNA:NM_001040274, UniProtKB:B4DFB8, UniProtKB:Q5T4T6 No chr6 10887064 10974542 10886831 10974309 +PA38298 50511 HGNC:18130 ENSG00000139351 synaptonemal complex protein 3 SYCP3 Yes No Comparative Toxicogenomics Database:50511, Ensembl:ENSG00000139351, GenAtlas:SYCP3, GeneCard:SYCP3, HGNC:HGNC:18130, HumanCyc Gene:HS13775, ModBase:Q8IZU3, NCBI Gene:50511, OMIM:270960, OMIM:604759, RefSeq DNA:NG_021181, RefSeq DNA:NT_029419, RefSeq Protein:NP_001171419, RefSeq Protein:NP_001171420, RefSeq Protein:NP_710161, RefSeq RNA:NM_001177948, RefSeq RNA:NM_001177949, RefSeq RNA:NM_153694, UCSC Genome Browser:NM_153694, UniProtKB:Q8IZU3 No chr12 102122426 102133474 101728648 101739722 +PA142670851 85360 HGNC:25824 ENSG00000105137 synapse defective Rho GTPase homolog 1 SYDE1 synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 7h3, FLJ13511, SYD1 Yes No Comparative Toxicogenomics Database:85360, Ensembl:ENSG00000105137, GeneCard:SYDE1, HGNC:HGNC:25824, HumanCyc Gene:HS12575, ModBase:Q6ZW31, NCBI Gene:85360, RefSeq DNA:NT_011295, RefSeq Protein:NP_149014, RefSeq RNA:NM_033025, UniProtKB:Q6ZW31 No chr19 15218214 15225790 15107364 15114988 +PA142670852 84144 HGNC:25841 ENSG00000097096 synapse defective Rho GTPase homolog 2 SYDE2 synapse defective 1, Rho GTPase, homolog 2 (C. elegans) FLJ13815 Yes No Comparative Toxicogenomics Database:84144, Ensembl:ENSG00000097096, GeneCard:SYDE2, HGNC:HGNC:25841, ModBase:Q5VT97, NCBI Gene:84144, RefSeq DNA:NT_032977, RefSeq Protein:NP_115560, RefSeq RNA:NM_032184 No chr1 85623356 85667292 85157673 85201725 +PA142670853 25949 HGNC:19824 ENSG00000117614 SYF2 pre-mRNA splicing factor SYF2 """SYF2 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF2 pre-mRNA-splicing factor"", ""functional spliceosome-associated protein 29""" CBPIN, DKFZp564O2082, NTC31, fSAP29, p29 Yes No Comparative Toxicogenomics Database:25949, Ensembl:ENSG00000117614, GeneCard:SYF2, HGNC:HGNC:19824, HumanCyc Gene:HS04158, ModBase:O95926, NCBI Gene:25949, OMIM:607090, RefSeq DNA:NG_003255, RefSeq DNA:NT_004610, RefSeq Protein:NP_056299, RefSeq Protein:NP_997053, RefSeq RNA:NM_015484, RefSeq RNA:NM_207170, UniProtKB:O95926 No chr1 25548767 25559013 25222276 25232522 +PA134871669 317778 HGNC:19925 ENSG00000258350 SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene 1 SYF2P1 Yes No Ensembl:ENSG00000258350, HGNC:HGNC:19925, NCBI Gene:317778, RefSeq DNA:NG_002474, RefSeq DNA:NT_026437 No chr14 31010956 31011394 30541750 30542188 +PA36273 6850 HGNC:11491 ENSG00000165025 spleen associated tyrosine kinase SYK spleen tyrosine kinase Yes No Comparative Toxicogenomics Database:6850, Ensembl:ENSG00000165025, GenAtlas:SYK, GeneCard:SYK, HGNC:HGNC:11491, HumanCyc Gene:HS09172, ModBase:P43405, NCBI Gene:6850, OMIM:600085, RefSeq DNA:NG_017046, RefSeq DNA:NT_008470, RefSeq Protein:NP_001128524, RefSeq Protein:NP_001167638, RefSeq Protein:NP_001167639, RefSeq Protein:NP_003168, RefSeq RNA:NM_001135052, RefSeq RNA:NM_001174167, RefSeq RNA:NM_001174168, RefSeq RNA:NM_003177, RefSeq RNA:NR_024155, RefSeq RNA:NR_024156, UCSC Genome Browser:NM_003177, UniProtKB:A8K4G2, UniProtKB:P43405 No chr9 93564012 93660842 90801680 90898560 +PA134896920 8189 HGNC:22935 ENSG00000125755 symplekin scaffold protein SYMPK symplekin Pta1, SPK, SYM Yes No Ensembl:ENSG00000125755, GeneCard:SYMPK, HGNC:HGNC:22935, HumanCyc Gene:HS04928, ModBase:Q92797, NCBI Gene:8189, OMIM:602388, RefSeq DNA:NT_011109, RefSeq Protein:NP_004810, RefSeq RNA:NM_004819, UniProtKB:Q92797 No chr19 46318700 46366548 45815442 45863290 +PA36276 6853 HGNC:11494 ENSG00000008056 synapsin I SYN1 Synapsin-1 MRX50 Yes No Comparative Toxicogenomics Database:6853, Ensembl:ENSG00000008056, GenAtlas:SYN1, GeneCard:SYN1, HGNC:HGNC:11494, HumanCyc Gene:HS00228, ModBase:P17600, NCBI Gene:6853, OMIM:300491, OMIM:313440, RefSeq DNA:NG_008437, RefSeq DNA:NT_079573, RefSeq Protein:NP_008881, RefSeq Protein:NP_598006, RefSeq RNA:NM_006950, RefSeq RNA:NM_133499, UCSC Genome Browser:NM_006950, UniProtKB:P17600 No chrX 47431300 47479256 47571901 47619857 +PA36277 6854 HGNC:11495 ENSG00000157152 synapsin II SYN2 Synapsin-2 SYNII, SYNIIa, SYNIIb Yes No Comparative Toxicogenomics Database:6854, Ensembl:ENSG00000157152, GenAtlas:SYN2, GeneCard:SYN2, HGNC:HGNC:11495, HumanCyc Gene:HS08185, NCBI Gene:6854, OMIM:181500, OMIM:600755, RefSeq DNA:NG_011728, RefSeq DNA:NT_022517, RefSeq Protein:NP_003169, RefSeq Protein:NP_598328, RefSeq RNA:NM_003178, RefSeq RNA:NM_133625, UCSC Genome Browser:NM_003178, UniProtKB:Q86VA8 No chr3 12182150 12233532 12004360 12192032 +PA36278 8224 HGNC:11496 ENSG00000185666 synapsin III SYN3 Synapsin-3 Yes Yes Comparative Toxicogenomics Database:8224, Ensembl:ENSG00000185666, GenAtlas:SYN3, GeneCard:SYN3, HGNC:HGNC:11496, ModBase:O14994, NCBI Gene:8224, OMIM:602705, RefSeq DNA:NT_011520, RefSeq Protein:NP_001129246, RefSeq Protein:NP_003481, RefSeq Protein:NP_598344, RefSeq RNA:NM_001135774, RefSeq RNA:NM_003490, RefSeq RNA:NM_133633, UCSC Genome Browser:NM_003490, UniProtKB:B1B1F9, UniProtKB:O14994, UniProtKB:Q17R54, UniProtKB:Q59EX7 No chr22 32908539 33454377 32508022 33058391 +PA164726395 81493 HGNC:28897 ENSG00000162520 syncoilin, intermediate filament protein SYNC SYNC1, SYNCOILIN Yes No Comparative Toxicogenomics Database:81493, Ensembl:ENSG00000162520, GeneCard:SYNC, HGNC:HGNC:28897, HumanCyc Gene:HS14925, NCBI Gene:81493, OMIM:611750, RefSeq DNA:NG_012421, RefSeq DNA:NT_032977, RefSeq Protein:NP_001155180, RefSeq Protein:NP_110413, RefSeq RNA:NM_001161708, RefSeq RNA:NM_030786, UniProtKB:Q9H7C4 No chr1 33145507 33168361 32679906 32702760 +PA134985065 10492 HGNC:16918 ENSG00000135316 synaptotagmin binding cytoplasmic RNA interacting protein SYNCRIP """heterogeneous nuclear ribonucleoprotein Q"", ""synaptotagmin binding, cytoplasmic RNA interacting protein""" GRY-RBP, HNRNPQ, HNRPQ1, NSAP1, dJ3J17.2, hnRNP-Q Yes No Comparative Toxicogenomics Database:10492, Ensembl:ENSG00000135316, GeneCard:SYNCRIP, HGNC:HGNC:16918, HumanCyc Gene:HS05979, ModBase:O60506, NCBI Gene:10492, RefSeq DNA:NT_007299, RefSeq Protein:NP_001153145, RefSeq Protein:NP_001153146, RefSeq Protein:NP_001153147, RefSeq Protein:NP_001153148, RefSeq Protein:NP_001153149, RefSeq Protein:NP_006363, RefSeq RNA:NM_001159673, RefSeq RNA:NM_001159674, RefSeq RNA:NM_001159675, RefSeq RNA:NM_001159676, RefSeq RNA:NM_001159677, RefSeq RNA:NM_006372, UniProtKB:B7Z645, UniProtKB:O60506, UniProtKB:Q59GL1 No chr6 86317502 86353568 85607784 85643862 +PA25752 79953 HGNC:15885 ENSG00000101463 synapse differentiation inducing 1 SYNDIG1 dispanin subfamily C member 2, interferon induced transmembrane protein domain containing 5, synapse differentiation induced gene 1 C20orf39, DSPC2, FLJ14220, IFITMD5, SynDIG1, TMEM90B Yes No Ensembl:ENSG00000101463, GenAtlas:C20orf39, GeneCard:C20orf39, GeneCard:TMEM90B, HGNC:HGNC:15885, HumanCyc Gene:HS02279, NCBI Gene:79953, RefSeq DNA:NT_011387, RefSeq Protein:NP_079169, RefSeq RNA:NM_024893, UCSC Genome Browser:NM_024893, UniProtKB:Q9H7V2 No chr20 24449835 24647253 24469199 24666617 +PA144596263 646658 HGNC:32388 ENSG00000183379 synapse differentiation inducing 1 like SYNDIG1L caudate-and putamen-enriched sequence, dispanin subfamily C member 1, interferon induced transmembrane protein domain containing 4, synapse differentiation inducing 1-like DSPC1, IFITMD4, SynDIG2, TMEM90A, capucin Yes No Ensembl:ENSG00000183379, GeneCard:SYNDIG1L, HGNC:HGNC:32388, ModBase:A6NDD5, NCBI Gene:646658, OMIM:609999, RefSeq DNA:NT_026437, RefSeq Protein:NP_001099049, RefSeq RNA:NM_001105579, UniProtKB:A6NDD5 No chr14 74872596 74892805 74405893 74477080 +PA134975331 23345 HGNC:17089 ENSG00000131018 spectrin repeat containing nuclear envelope protein 1 SYNE1 """myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"", ""spectrin repeat containing, nuclear envelope 1""" 8B, ARCA1, C6orf98, CPG2, KIAA0796, MYNE1, Nesp1, Nesprin-1, SCAR8, SYNE-1B, dJ45H2.2, enaptin Yes No Comparative Toxicogenomics Database:23345, Ensembl:ENSG00000131018, GeneCard:SYNE1, HGNC:HGNC:17089, HumanCyc Gene:HS05471, ModBase:Q9UJ07, NCBI Gene:23345, OMIM:608441, OMIM:610743, OMIM:612998, RefSeq DNA:NG_012855, RefSeq DNA:NT_025741, RefSeq Protein:NP_056108, RefSeq Protein:NP_149062, RefSeq Protein:NP_598411, RefSeq Protein:NP_892006, RefSeq RNA:NM_015293, RefSeq RNA:NM_033071, RefSeq RNA:NM_133650, RefSeq RNA:NM_182961, UniProtKB:Q8NF91 No chr6 152442819 152958534 152121684 152637399 +PA128394613 23224 HGNC:17084 ENSG00000054654 spectrin repeat containing nuclear envelope protein 2 SYNE2 """nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"", ""spectrin repeat containing, nuclear envelope 2""" DKFZP434H2235, KIAA1011, NUA, NUANCE, Nesp2, Nesprin-2, SYNE-2 Yes Yes Comparative Toxicogenomics Database:23224, Ensembl:ENSG00000054654, GeneCard:SYNE2, HGNC:HGNC:17084, HumanCyc Gene:HS00673, ModBase:Q9NU50, NCBI Gene:23224, OMIM:608442, OMIM:612999, RefSeq DNA:NG_011756, RefSeq DNA:NT_026437, RefSeq Protein:NP_055995, RefSeq Protein:NP_878914, RefSeq Protein:NP_878917, RefSeq Protein:NP_878918, RefSeq RNA:NM_015180, RefSeq RNA:NM_182910, RefSeq RNA:NM_182913, RefSeq RNA:NM_182914, UCSC Genome Browser:NM_015180, UniProtKB:Q6MZP0, UniProtKB:Q8WXH0 No chr14 64319683 64693167 63761904 64226449 +PA134931380 161176 HGNC:19861 ENSG00000176438 spectrin repeat containing nuclear envelope family member 3 SYNE3 spectrin repeat containing, nuclear envelope family member 3 C14orf139, C14orf49, FLJ25605, LINC00341, NCRNA00341, NET53, Nesp3, Nesprin-3 Yes Yes Ensembl:ENSG00000176438, GeneCard:C14orf49, HGNC:HGNC:19861, HumanCyc Gene:HS16662, ModBase:Q6ZMZ3, NCBI Gene:161176, OMIM:610861, RefSeq DNA:NT_026437, RefSeq Protein:NP_689805, RefSeq RNA:NM_152592, UniProtKB:Q6ZMZ3 No chr14 95883831 95983000 95416083 95516693 +PA145149542 163183 HGNC:26703 ENSG00000181392 spectrin repeat containing nuclear envelope family member 4 SYNE4 spectrin repeat containing, nuclear envelope family member 4 C19orf46, DFNB76, FLJ36445, Nesp4, Nesprin-4 Yes No Ensembl:ENSG00000181392, GeneCard:C19orf46, HGNC:HGNC:26703, HumanCyc Gene:HS17669, ModBase:Q8N205, NCBI Gene:163183, RefSeq DNA:NT_011109, RefSeq Protein:NP_001034965, RefSeq RNA:NM_001039876, UniProtKB:Q8N205 No chr19 36494002 36499958 36003299 36008793 +PA36279 8831 HGNC:11497 ENSG00000197283, ENSG00000227460 synaptic Ras GTPase activating protein 1 SYNGAP1 KIAA1938, RASA5, SYNGAP Yes No Ensembl:ENSG00000197283, Ensembl:ENSG00000227460, GenAtlas:SYNGAP1, GeneCard:SYNGAP1, HGNC:HGNC:11497, ModBase:Q96PV0, NCBI Gene:8831, OMIM:603384, OMIM:612621, RefSeq DNA:NG_016137, RefSeq DNA:NT_007592, RefSeq DNA:NT_167249, RefSeq Protein:NP_006763, RefSeq RNA:NM_006772, UniProtKB:Q96PV0 No chr6 33387847 33421466 33420070 33453689 +PA36280 9145 HGNC:11498 ENSG00000100321 synaptogyrin 1 SYNGR1 Yes No Comparative Toxicogenomics Database:9145, Ensembl:ENSG00000100321, GenAtlas:SYNGR1, GeneCard:SYNGR1, HGNC:HGNC:11498, HumanCyc Gene:HS02043, NCBI Gene:9145, OMIM:603925, RefSeq DNA:NT_011520, RefSeq Protein:NP_004702, RefSeq Protein:NP_663783, RefSeq Protein:NP_663791, RefSeq RNA:NM_004711, RefSeq RNA:NM_145731, RefSeq RNA:NM_145738, UCSC Genome Browser:NM_004711, UniProtKB:O43759 No chr22 39745954 39781593 39349949 39385588 +PA36281 9144 HGNC:11499 ENSG00000108639 synaptogyrin 2 SYNGR2 cellugyrin Yes No Ensembl:ENSG00000108639, GenAtlas:SYNGR2, GeneCard:SYNGR2, HGNC:HGNC:11499, HumanCyc Gene:HS03136, NCBI Gene:9144, OMIM:603926, RefSeq DNA:NT_010783, RefSeq Protein:NP_004701, RefSeq RNA:NM_004710, UCSC Genome Browser:NM_004710, UniProtKB:O43760 No chr17 76164632 76169009 78168545 78172928 +PA36283 9143 HGNC:11501 ENSG00000127561 synaptogyrin 3 SYNGR3 Yes No Comparative Toxicogenomics Database:9143, Ensembl:ENSG00000127561, GenAtlas:SYNGR3, GeneCard:SYNGR3, HGNC:HGNC:11501, HumanCyc Gene:HS05113, NCBI Gene:9143, OMIM:603927, RefSeq DNA:NT_010393, RefSeq Protein:NP_004200, RefSeq RNA:NM_004209, UCSC Genome Browser:NM_004209, UniProtKB:O43761 No chr16 2039946 2044276 1989945 1994275 +PA36284 23546 HGNC:11502 ENSG00000105467 synaptogyrin 4 SYNGR4 Yes No Comparative Toxicogenomics Database:23546, Ensembl:ENSG00000105467, GenAtlas:SYNGR4, GeneCard:SYNGR4, HGNC:HGNC:11502, HumanCyc Gene:HS02744, NCBI Gene:23546, OMIM:608373, RefSeq DNA:NT_011109, RefSeq Protein:NP_036583, RefSeq RNA:NM_012451, UCSC Genome Browser:NM_012451, UniProtKB:O95473 No chr19 48867559 48879634 48364281 48376377 +PA36285 8867 HGNC:11503 ENSG00000159082 synaptojanin 1 SYNJ1 """inositol polyphosphate-5-phosphatase G"", ""phosphoinositide 5-phosphatase"", ""synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1""" INPP5G, PARK20 Yes No Ensembl:ENSG00000159082, GenAtlas:SYNJ1, GeneCard:SYNJ1, HGNC:HGNC:11503, HumanCyc Gene:HS08354, ModBase:O43426, NCBI Gene:8867, OMIM:604297, RefSeq DNA:NT_011512, RefSeq Protein:NP_001153774, RefSeq Protein:NP_001153778, RefSeq Protein:NP_003886, RefSeq Protein:NP_982271, RefSeq RNA:NM_001160302, RefSeq RNA:NM_001160306, RefSeq RNA:NM_003895, RefSeq RNA:NM_203446, UCSC Genome Browser:NM_003895, UniProtKB:B9EGN3, UniProtKB:C9JFZ1, UniProtKB:O43426, UniProtKB:Q05CZ1 No chr21 33997269 34100351 32628759 32728128 +PA36286 8871 HGNC:11504 ENSG00000078269 synaptojanin 2 SYNJ2 """inositol polyphosphate-5-phosphatase H"", ""phosphoinositide 5-phosphatase"", ""synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2""" INPP5H Yes No Comparative Toxicogenomics Database:8871, Ensembl:ENSG00000078269, GenAtlas:SYNJ2, GeneCard:SYNJ2, HGNC:HGNC:11504, HumanCyc Gene:HS01279, ModBase:O15056, NCBI Gene:8871, OMIM:609410, RefSeq DNA:NT_025741, RefSeq Protein:NP_001171559, RefSeq Protein:NP_003889, RefSeq RNA:NM_001178088, RefSeq RNA:NM_003898, UCSC Genome Browser:NM_003898, UniProtKB:O15056 No chr6 158402888 158520208 157981856 158099176 +PA38768 55333 HGNC:18955 ENSG00000213463 synaptojanin 2 binding protein SYNJ2BP activin receptor interacting protein 5 Arip2 Yes No Comparative Toxicogenomics Database:55333, Ensembl:ENSG00000213463, GenAtlas:SYNJ2BP, GeneCard:SYNJ2BP, HGNC:HGNC:18955, ModBase:P57105, NCBI Gene:55333, OMIM:609411, RefSeq DNA:NT_026437, RefSeq Protein:NP_060843, RefSeq RNA:NM_018373, UCSC Genome Browser:NM_018373, UniProtKB:P57105 No chr14 70833213 70883807 70366496 70417090 +PA164726408 23336 HGNC:24466 ENSG00000182253 synemin SYNM """synemin alpha"", ""synemin beta"", ""synemin, intermediate filament protein""" DMN, KIAA0353, SYN Yes No Comparative Toxicogenomics Database:23336, Ensembl:ENSG00000182253, GeneCard:SYNM, HGNC:HGNC:24466, NCBI Gene:23336, OMIM:606087, RefSeq DNA:NG_008210, RefSeq DNA:NT_010274, RefSeq DNA:NT_035325, RefSeq Protein:NP_056101, RefSeq Protein:NP_663780, RefSeq RNA:NM_015286, RefSeq RNA:NM_145728, UCSC Genome Browser:NM_015286, UniProtKB:O15061 No chr15 99645286 99675800 99105069 99136586 +PA134863299 11346 HGNC:30672 ENSG00000171992 synaptopodin SYNPO KIAA1029, SYNPO1 Yes No Comparative Toxicogenomics Database:11346, Ensembl:ENSG00000171992, GeneCard:SYNPO, HGNC:HGNC:30672, HumanCyc Gene:HS16047, NCBI Gene:11346, OMIM:608155, RefSeq DNA:NT_029289, RefSeq Protein:NP_001103444, RefSeq Protein:NP_001159680, RefSeq Protein:NP_001159681, RefSeq Protein:NP_009217, RefSeq RNA:NM_001109974, RefSeq RNA:NM_001166208, RefSeq RNA:NM_001166209, RefSeq RNA:NM_007286, UniProtKB:Q8N3V7 No chr5 149980642 150038792 150586026 150659230 +PA38244 171024 HGNC:17732 ENSG00000172403 synaptopodin 2 SYNPO2 SYNPO2 intron sense-overlapping lncRNA MYOPODIN, SYISL Yes No Ensembl:ENSG00000172403, GenAtlas:SYNPO2, GeneCard:SYNPO2, HGNC:HGNC:17732, HumanCyc Gene:HS16082, ModBase:Q9UMS6, NCBI Gene:171024, RefSeq DNA:NT_016354, RefSeq Protein:NP_001122405, RefSeq Protein:NP_001122406, RefSeq Protein:NP_597734, RefSeq RNA:NM_001128933, RefSeq RNA:NM_001128934, RefSeq RNA:NM_133477, UniProtKB:B2RWP6, UniProtKB:Q9UMS6 No chr4 119809996 119982402 118850688 119061247 +PA134889033 79933 HGNC:23532 ENSG00000166317 synaptopodin 2 like SYNPO2L synaptopodin 2-like FLJ12921 Yes No Comparative Toxicogenomics Database:79933, Ensembl:ENSG00000166317, GeneCard:SYNPO2L, HGNC:HGNC:23532, HumanCyc Gene:HS15426, ModBase:Q9H987, NCBI Gene:79933, RefSeq DNA:NT_030059, RefSeq Protein:NP_001107605, RefSeq Protein:NP_079151, RefSeq RNA:NM_001114133, RefSeq RNA:NM_024875, UniProtKB:Q9H987 No chr10 75404639 75415832 73644881 73656105 +PA38154 132204 HGNC:16507 ENSG00000163630 synaptoporin SYNPR MGC26651, SPO Yes No Ensembl:ENSG00000163630, GenAtlas:SYNPR, GeneCard:SYNPR, HGNC:HGNC:16507, HumanCyc Gene:HS08899, ModBase:Q8TBG9, NCBI Gene:132204, RefSeq DNA:NT_022517, RefSeq Protein:NP_001123475, RefSeq Protein:NP_653243, RefSeq RNA:NM_001130003, RefSeq RNA:NM_144642, UCSC Genome Browser:NM_144642, UniProtKB:Q8TBG9 No chr3 63263914 63602597 63200604 63616924 +PA24847 11276 HGNC:557 ENSG00000275066 synergin gamma SYNRG """adaptor-related protein complex 1 gamma subunit-binding protein 1"", ""gamma-synergin"", ""synergin, gamma""" AP1GBP1, MGC104959, SYNG Yes No Comparative Toxicogenomics Database:11276, Ensembl:ENSG00000275066, GenAtlas:AP1GBP1, GeneCard:AP1GBP1, GeneCard:SYNRG, HGNC:HGNC:557, HumanCyc Gene:HS00166, ModBase:Q9UMZ2, NCBI Gene:11276, OMIM:607291, RefSeq DNA:NT_010783, RefSeq DNA:NT_078100, RefSeq Protein:NP_001157016, RefSeq Protein:NP_001157017, RefSeq Protein:NP_001157018, RefSeq Protein:NP_001157019, RefSeq Protein:NP_009178, RefSeq Protein:NP_542117, RefSeq Protein:NP_942583, RefSeq RNA:NM_001163544, RefSeq RNA:NM_001163545, RefSeq RNA:NM_001163546, RefSeq RNA:NM_001163547, RefSeq RNA:NM_007247, RefSeq RNA:NM_080550, RefSeq RNA:NM_198882, UCSC Genome Browser:NM_007247, UniProtKB:A8MWU4, UniProtKB:Q9UMZ2 No chr17 35874900 35969544 37514797 37613637 +PA36288 6855 HGNC:11506 ENSG00000102003 synaptophysin SYP MRX96 Yes No Comparative Toxicogenomics Database:6855, Ensembl:ENSG00000102003, GenAtlas:SYP, GeneCard:SYP, HGNC:HGNC:11506, HumanCyc Gene:HS02332, ModBase:P08247, NCBI Gene:6855, OMIM:300802, OMIM:313475, RefSeq DNA:NG_012532, RefSeq DNA:NT_079573, RefSeq Protein:NP_003170, RefSeq RNA:NM_003179, UCSC Genome Browser:NM_003179, UniProtKB:P08247 No chrX 49044263 49056661 49187812 49200202 +PA36289 6856 HGNC:11507 ENSG00000008282 synaptophysin like 1 SYPL1 pantophysin, synaptophysin-like 1 SYPL Yes No Ensembl:ENSG00000008282, GenAtlas:SYPL1, GeneCard:SYPL1, HGNC:HGNC:11507, HumanCyc Gene:HS00240, ModBase:Q16563, NCBI Gene:6856, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_006745, RefSeq Protein:NP_874384, RefSeq RNA:NM_006754, RefSeq RNA:NM_182715, UCSC Genome Browser:NM_006754, UniProtKB:A4D0R1, UniProtKB:A4D0R2, UniProtKB:Q16563 No chr7 105730814 105753093 106090368 106112647 +PA142670846 284612 HGNC:27638 ENSG00000143028 synaptophysin like 2 SYPL2 mitsugumin-29, synaptophysin-like 2 Mg29 Yes No Ensembl:ENSG00000143028, GeneCard:SYPL2, HGNC:HGNC:27638, ModBase:Q5VXT5, NCBI Gene:284612, RefSeq DNA:NT_032977, RefSeq Protein:NP_001035799, RefSeq RNA:NM_001040709, UniProtKB:Q5VXT5 No chr1 110009100 110024764 109466478 109482142 +PA162405119 90196 HGNC:16162 ENSG00000204070 SYS1 golgi trafficking protein SYS1 """SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"", ""SYS1, golgi trafficking protein"", ""Sys1 golgi trafficking protein""" C20orf169, dJ453C12.4 Yes No Ensembl:ENSG00000204070, GeneCard:SYS1, HGNC:HGNC:16162, NCBI Gene:90196, OMIM:612979, RefSeq DNA:NT_011362, RefSeq Protein:NP_001093261, RefSeq Protein:NP_001184058, RefSeq Protein:NP_291020, RefSeq RNA:NM_001099791, RefSeq RNA:NM_001197129, RefSeq RNA:NM_033542, UniProtKB:Q8N2H4 No chr20 43988660 44005442 45361937 45376802 +PA162405132 767557 HGNC:33535 ENSG00000254806 SYS1-DBNDD2 readthrough (non-protein coding) SYS1-DBNDD2 Yes No Ensembl:ENSG00000254806, HGNC:HGNC:33535, NCBI Gene:767557, RefSeq DNA:NT_011362.9, RefSeq RNA:NR_003189, RefSeq RNA:NR_003189.1 No chr20 43991809 44039250 45363169 45410610 +PA36290 6857 HGNC:11509 ENSG00000067715 synaptotagmin 1 SYT1 synaptotagmin I P65, SVP65, SYT Yes Yes Comparative Toxicogenomics Database:6857, Ensembl:ENSG00000067715, GenAtlas:SYT1, GeneCard:SYT1, HGNC:HGNC:11509, HumanCyc Gene:HS00917, ModBase:P21579, NCBI Gene:6857, OMIM:185605, RefSeq DNA:NT_029419, RefSeq Protein:NP_001129277, RefSeq Protein:NP_001129278, RefSeq Protein:NP_005630, RefSeq RNA:NM_001135805, RefSeq RNA:NM_001135806, RefSeq RNA:NM_005639, UCSC Genome Browser:NM_005639, UniProtKB:P21579, UniProtKB:Q6AI31 No chr12 79257773 79845788 78863993 79452008 +PA134866255 341359 HGNC:19266 ENSG00000110975 synaptotagmin 10 SYT10 synaptotagmin X Yes No Comparative Toxicogenomics Database:341359, Ensembl:ENSG00000110975, GeneCard:SYT10, HGNC:HGNC:19266, ModBase:Q6XYQ8, NCBI Gene:341359, RefSeq DNA:NT_009714, RefSeq Protein:NP_945343, RefSeq RNA:NM_198992, UniProtKB:Q6XYQ8 No chr12 33528348 33592754 33375413 33439819 +PA134898675 23208 HGNC:19239 ENSG00000132718 synaptotagmin 11 SYT11 synaptotagmin XI DKFZp781D015, KIAA0080, MGC10881, MGC17226 Yes No Comparative Toxicogenomics Database:23208, Ensembl:ENSG00000132718, GeneCard:SYT11, HGNC:HGNC:19239, HumanCyc Gene:HS05684, ModBase:Q9BT88, NCBI Gene:23208, OMIM:608741, RefSeq DNA:NT_004487, RefSeq Protein:NP_689493, RefSeq RNA:NM_152280, UniProtKB:Q9BT88 No chr1 155829260 155854990 155859454 155885199 +PA38321 91683 HGNC:18381 ENSG00000173227 synaptotagmin 12 SYT12 synaptotagmin XII SRG1 Yes No Comparative Toxicogenomics Database:91683, Ensembl:ENSG00000173227, GenAtlas:SYT12, GeneCard:SYT12, HGNC:HGNC:18381, ModBase:Q8IV01, NCBI Gene:91683, OMIM:606436, RefSeq DNA:NT_167190, RefSeq Protein:NP_001171351, RefSeq Protein:NP_808878, RefSeq RNA:NM_001177880, RefSeq RNA:NM_177963, UCSC Genome Browser:NM_177963, UniProtKB:B0AZL9, UniProtKB:Q8IV01, UniProtKB:Q8NDM9 No chr11 66790190 66818334 67006778 67050863 +PA37942 57586 HGNC:14962 ENSG00000019505 synaptotagmin 13 SYT13 synaptotagmin XIII KIAA1427 Yes No Ensembl:ENSG00000019505, GenAtlas:SYT13, GeneCard:SYT13, HGNC:HGNC:14962, HumanCyc Gene:HS00396, ModBase:Q7L8C5, NCBI Gene:57586, OMIM:607716, RefSeq DNA:NT_009237, RefSeq Protein:NP_065877, RefSeq RNA:NM_020826, UCSC Genome Browser:NM_020826, UniProtKB:Q7L8C5 No chr11 45261853 45307884 45240302 45286333 +PA134887689 255928 HGNC:23143 ENSG00000143469 synaptotagmin 14 SYT14 synaptotagmin XIV FLJ34198, sytXIV Yes No Ensembl:ENSG00000143469, GeneCard:SYT14, HGNC:HGNC:23143, HumanCyc Gene:HS07061, ModBase:Q8NB59, NCBI Gene:255928, OMIM:610949, RefSeq DNA:NT_167186, RefSeq Protein:NP_001139733, RefSeq Protein:NP_001139734, RefSeq Protein:NP_001139736, RefSeq Protein:NP_694994, RefSeq RNA:NM_001146261, RefSeq RNA:NM_001146262, RefSeq RNA:NM_001146264, RefSeq RNA:NM_153262, RefSeq RNA:NR_027458, RefSeq RNA:NR_027459, UniProtKB:A1L3Y1, UniProtKB:Q8NB59 No chr1 210111519 210337636 209938165 210171315 +PA134921618 83849 HGNC:17167 ENSG00000204176 synaptotagmin 15 SYT15 synaptotagmin XV CHR10SYT Yes No Ensembl:ENSG00000204176, GeneCard:SYT15, HGNC:HGNC:17167, ModBase:Q9BQS2, NCBI Gene:83849, OMIM:608081, RefSeq DNA:NT_031847, RefSeq Protein:NP_114118, RefSeq Protein:NP_852660, RefSeq RNA:NM_031912, RefSeq RNA:NM_181519, UniProtKB:A5D6W8, UniProtKB:Q9BQS2 No chr10 46955444 46971400 46578434 46595170 +PA166352202 102724488 HGNC:51487 synaptotagmin 15B SYT15B Yes No HGNC:HGNC:51487, NCBI Gene:102724488 No 0 0 0 0 +PA134964250 83851 HGNC:23142 ENSG00000139973 synaptotagmin 16 SYT16 chr14 synaptotagmin, synaptotagmin XIV-related, synaptotagmin XVI CHR14SYT, SYT14L, Strep14, yt14r Yes No Ensembl:ENSG00000139973, GeneCard:SYT16, HGNC:HGNC:23142, ModBase:Q17RD7, NCBI Gene:83851, OMIM:610950, RefSeq DNA:NT_026437, RefSeq Protein:NP_114120, RefSeq RNA:NM_031914, UniProtKB:Q17RD7 No chr14 62331567 62573915 61812156 62112825 +PA142670841 51760 HGNC:24119 ENSG00000103528 synaptotagmin 17 SYT17 B/K protein, synaptotagmin XVII Syt-17 Yes No Ensembl:ENSG00000103528, GeneCard:SYT17, HGNC:HGNC:24119, HumanCyc Gene:HS02518, ModBase:Q9BSW7, NCBI Gene:51760, RefSeq DNA:NT_010393, RefSeq Protein:NP_057608, RefSeq RNA:NM_016524, UniProtKB:Q9BSW7 No chr16 19179541 19279656 19167834 19268334 +PA36291 127833 HGNC:11510 ENSG00000143858 synaptotagmin 2 SYT2 synaptotagmin II Yes No Ensembl:ENSG00000143858, GenAtlas:SYT2, GeneCard:SYT2, HGNC:HGNC:11510, ModBase:Q8N9I0, NCBI Gene:127833, OMIM:600104, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129976, RefSeq Protein:NP_796376, RefSeq RNA:NM_001136504, RefSeq RNA:NM_177402, UCSC Genome Browser:NM_177402, UniProtKB:Q8N9I0 No chr1 202559724 202679551 202590596 202710444 +PA36292 84258 HGNC:11511 ENSG00000213023 synaptotagmin 3 SYT3 synaptotagmin III Yes No Comparative Toxicogenomics Database:84258, Ensembl:ENSG00000213023, GenAtlas:SYT3, GeneCard:SYT3, HGNC:HGNC:11511, ModBase:Q9BQG1, NCBI Gene:84258, OMIM:600327, RefSeq DNA:NT_011109, RefSeq Protein:NP_001153800, RefSeq Protein:NP_001153801, RefSeq Protein:NP_115674, RefSeq RNA:NM_001160328, RefSeq RNA:NM_001160329, RefSeq RNA:NM_032298, UCSC Genome Browser:NM_032298, UniProtKB:Q9BQG1 No chr19 51125234 51143092 50621977 50658127 +PA36293 6860 HGNC:11512 ENSG00000132872 synaptotagmin 4 SYT4 synaptotagmin IV HsT1192, KIAA1342 Yes No Ensembl:ENSG00000132872, GenAtlas:SYT4, GeneCard:SYT4, HGNC:HGNC:11512, HumanCyc Gene:HS05701, ModBase:Q9H2B2, NCBI Gene:6860, OMIM:600103, RefSeq DNA:NT_010966, RefSeq Protein:NP_065834, RefSeq RNA:NM_020783, UCSC Genome Browser:NM_020783, UniProtKB:Q9H2B2 No chr18 40847857 40857615 43267892 43277650 +PA36294 6861 HGNC:11513 ENSG00000129990 synaptotagmin 5 SYT5 synaptotagmin 5, synaptotagmin V Yes No Ensembl:ENSG00000129990, GenAtlas:SYT5, GeneCard:SYT5, HGNC:HGNC:11513, HumanCyc Gene:HS05324, ModBase:O00445, NCBI Gene:6861, OMIM:600782, RefSeq DNA:NT_011109, RefSeq Protein:NP_003171, RefSeq RNA:NM_003180, UCSC Genome Browser:NM_003180, UniProtKB:O00445 No chr19 55682571 55691809 55173095 55180441 +PA38614 148281 HGNC:18638 ENSG00000134207 synaptotagmin 6 SYT6 synaptotagmin VI Yes No Ensembl:ENSG00000134207, GenAtlas:SYT6, GeneCard:SYT6, HGNC:HGNC:18638, ModBase:Q5T7P8, NCBI Gene:148281, OMIM:607718, RefSeq DNA:NT_032977, RefSeq Protein:NP_995320, RefSeq RNA:NM_205848, UniProtKB:Q5T7P8 No chr1 114631914 114696472 114089292 114153919 +PA36295 9066 HGNC:11514 ENSG00000011347 synaptotagmin 7 SYT7 synaptotagmin VII IPCA-7, MGC150517, PCANAP7, SYT-VII Yes No Ensembl:ENSG00000011347, GenAtlas:SYT7, GeneCard:SYT7, HGNC:HGNC:11514, HumanCyc Gene:HS00313, ModBase:O43581, NCBI Gene:9066, OMIM:604146, RefSeq DNA:NT_167190, RefSeq Protein:NP_004191, RefSeq RNA:NM_004200, UniProtKB:O43581 No chr11 61281188 61348523 61513716 61588404 +PA134993261 90019 HGNC:19264 ENSG00000149043 synaptotagmin 8 SYT8 synaptotagmin VIII DKFZp434K0322 Yes No Ensembl:ENSG00000149043, GeneCard:SYT8, HGNC:HGNC:19264, HumanCyc Gene:HS14264, NCBI Gene:90019, OMIM:607719, RefSeq DNA:NT_009237, RefSeq Protein:NP_612634, RefSeq RNA:NM_138567, UniProtKB:Q8NBV8 No chr11 1855674 1858751 1827484 1837521 +PA134984583 143425 HGNC:19265 ENSG00000170743 synaptotagmin 9 SYT9 synaptotagmin IX Yes No Comparative Toxicogenomics Database:143425, Ensembl:ENSG00000170743, GeneCard:SYT9, HGNC:HGNC:19265, ModBase:Q86SS6, NCBI Gene:143425, RefSeq DNA:NT_009237, RefSeq Protein:NP_783860, RefSeq RNA:NM_175733, UniProtKB:Q86SS6 No chr11 7273181 7490276 7238784 7470032 +PA134921815 84958 HGNC:15584 ENSG00000142765 synaptotagmin like 1 SYTL1 synaptotagmin-like 1 FLJ14996, JFC1, SLP1, exophilin-7 Yes No Ensembl:ENSG00000142765, GeneCard:SYTL1, HGNC:HGNC:15584, HumanCyc Gene:HS06961, ModBase:Q8IYJ3, NCBI Gene:84958, OMIM:608042, RefSeq DNA:NT_004610, RefSeq Protein:NP_001180237, RefSeq Protein:NP_116261, RefSeq RNA:NM_001193308, RefSeq RNA:NM_032872, UniProtKB:Q8IYJ3 No chr1 27668483 27680423 27341992 27353932 +PA37985 54843 HGNC:15585 ENSG00000137501 synaptotagmin like 2 SYTL2 """breast cancer-associated antigen SGA-72M"", ""chromosome 11 synaptotagmin"", ""protein phosphatase 1, regulatory subunit 151"", ""synaptotagmin-like 2""" CHR11SYT, FLJ20163, FLJ21219, KIAA1597, MGC102768, PPP1R151, SGA72M, SLP2, exophilin-4 Yes No Comparative Toxicogenomics Database:54843, Ensembl:ENSG00000137501, GenAtlas:SYTL2, GeneCard:SYTL2, HGNC:HGNC:15585, HumanCyc Gene:HS06352, ModBase:Q9HCH5, NCBI Gene:54843, OMIM:612880, RefSeq DNA:NT_167190, RefSeq Protein:NP_001156423, RefSeq Protein:NP_001156424, RefSeq Protein:NP_001156425, RefSeq Protein:NP_115755, RefSeq Protein:NP_116561, RefSeq Protein:NP_996810, RefSeq Protein:NP_996811, RefSeq Protein:NP_996812, RefSeq Protein:NP_996813, RefSeq RNA:NM_001162951, RefSeq RNA:NM_001162952, RefSeq RNA:NM_001162953, RefSeq RNA:NM_032379, RefSeq RNA:NM_032943, RefSeq RNA:NM_206927, RefSeq RNA:NM_206928, RefSeq RNA:NM_206929, RefSeq RNA:NM_206930, UCSC Genome Browser:NM_032379, UniProtKB:Q9HCH5 No chr11 85405264 85522197 85694221 85811182 +PA37986 94120 HGNC:15587 ENSG00000164674 synaptotagmin like 3 SYTL3 synaptotagmin-like 3 SLP3, exophilin-6 Yes No Ensembl:ENSG00000164674, GenAtlas:SYTL3, GeneCard:SYTL3, HGNC:HGNC:15587, ModBase:Q4VX76, NCBI Gene:94120, RefSeq DNA:NT_025741, RefSeq Protein:NP_001009991, RefSeq Protein:NP_001229313, RefSeq Protein:NP_001229323, RefSeq Protein:NP_001229324, RefSeq RNA:NM_001009991, RefSeq RNA:NM_001242384, RefSeq RNA:NM_001242394, RefSeq RNA:NM_001242395, UniProtKB:Q4VX76 No chr6 159065931 159185908 158644881 158766298 +PA37987 94121 HGNC:15588 ENSG00000102362 synaptotagmin like 4 SYTL4 exophilin-2, granuphilin-a, synaptotagmin-like 4 Slp4 Yes No Comparative Toxicogenomics Database:94121, Ensembl:ENSG00000102362, GenAtlas:SYTL4, GeneCard:SYTL4, HGNC:HGNC:15588, HumanCyc Gene:HS02385, ModBase:Q96C24, NCBI Gene:94121, OMIM:300723, RefSeq DNA:NG_016858, RefSeq DNA:NT_011651, RefSeq Protein:NP_001123368, RefSeq Protein:NP_001167539, RefSeq Protein:NP_542775, RefSeq RNA:NM_001129896, RefSeq RNA:NM_001174068, RefSeq RNA:NM_080737, UCSC Genome Browser:NM_080737, UniProtKB:A8K973, UniProtKB:B2R7R4, UniProtKB:Q71SF7, UniProtKB:Q96C24 No chrX 99929488 99987135 100671964 100732148 +PA37988 94122 HGNC:15589 ENSG00000147041 synaptotagmin like 5 SYTL5 exophilin 9, synaptotagmin-like 5 Slp5 Yes No Ensembl:ENSG00000147041, GenAtlas:SYTL5, GeneCard:SYTL5, HGNC:HGNC:15589, HumanCyc Gene:HS07383, ModBase:Q8TDW5, NCBI Gene:94122, RefSeq DNA:NG_013265, RefSeq DNA:NT_079573, RefSeq Protein:NP_001156806, RefSeq Protein:NP_001156807, RefSeq Protein:NP_620135, RefSeq RNA:NM_001163334, RefSeq RNA:NM_001163335, RefSeq RNA:NM_138780, UCSC Genome Browser:NM_138780, UniProtKB:A2RRF2, UniProtKB:Q8TDW5 No chrX 37865835 37988073 37888915 38128820 +PA128394735 84447 HGNC:20738 ENSG00000162298 synoviolin 1 SYVN1 """HMG-coA reductase degradation 1 homolog (S. cerevisiae)"", ""synovial apoptosis inhibitor 1, synoviolin""" DER3, HRD1 Yes No Comparative Toxicogenomics Database:84447, Ensembl:ENSG00000162298, GeneCard:SYVN1, HGNC:HGNC:20738, HumanCyc Gene:HS14905, ModBase:Q86TM6, NCBI Gene:84447, OMIM:608046, RefSeq DNA:NT_167190, RefSeq Protein:NP_115807, RefSeq Protein:NP_757385, RefSeq RNA:NM_032431, RefSeq RNA:NM_172230, UCSC Genome Browser:NM_032431, UniProtKB:Q86TM6 No chr11 64894751 64902285 65127279 65135178 +PA142672461 26099 HGNC:30232 ENSG00000055070 SUZ RNA binding domain containing 1 SZRD1 C1orf144, DKFZp566C0424 Yes Yes Comparative Toxicogenomics Database:26099, Ensembl:ENSG00000055070, GeneCard:C1orf144, HGNC:HGNC:30232, HumanCyc Gene:HS12140, NCBI Gene:26099, RefSeq DNA:NT_004610, RefSeq Protein:NP_001108072, RefSeq Protein:NP_056424, RefSeq RNA:NM_001114600, RefSeq RNA:NM_015609, UniProtKB:Q7Z422 No chr1 16693525 16724643 16367030 16398148 +PA142671628 23334 HGNC:29040 ENSG00000198198 SZT2 subunit of KICSTOR complex SZT2 """SZT2, KICSTOR complex subunit"", ""seizure threshold 2 homolog (mouse)"", ""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)""" C1orf84, FLJ10387, FLJ34502, KIAA0467, KICS1, RP11-506B15.1, SZT2A, SZT2B Yes No Ensembl:ENSG00000198198, GeneCard:KIAA0467, HGNC:HGNC:29040, ModBase:Q7Z636, NCBI Gene:23334, RefSeq DNA:NT_032977, RefSeq Protein:NP_056099, RefSeq RNA:NM_015284, UniProtKB:Q5T011 No chr1 43855556 43919918 43389884 43454247 +PA134921784 134864 HGNC:17734 ENSG00000146399 trace amine associated receptor 1 TAAR1 TA1, TAR1, TRAR1 Yes No Ensembl:ENSG00000146399, GeneCard:TAAR1, HGNC:HGNC:17734, HumanCyc Gene:HS07347, IUPHAR Receptor:364, ModBase:Q96RJ0, NCBI Gene:134864, OMIM:609333, RefSeq DNA:NT_025741, RefSeq Protein:NP_612200, RefSeq RNA:NM_138327, UniProtKB:Q96RJ0 No chr6 132966123 132967142 132644898 132646026 +PA28903 9287 HGNC:4514 ENSG00000146378 trace amine associated receptor 2 TAAR2 trace amine associated receptor 2, trace amine associated receptor 2 (gene/pseudogene) GPR58 Yes No Ensembl:ENSG00000146378, GenAtlas:TAAR2, GeneCard:TAAR2, HGNC:HGNC:4514, HumanCyc Gene:HS07344, IUPHAR Receptor:167, ModBase:Q9P1P5, NCBI Gene:9287, OMIM:604849, RefSeq DNA:NT_025741, RefSeq Protein:NP_001028252, RefSeq Protein:NP_055441, RefSeq RNA:NM_001033080, RefSeq RNA:NM_014626, UCSC Genome Browser:NM_014626, UniProtKB:Q9P1P5 No chr6 132938289 132945414 132617150 132624275 +PA142670842 503612 HGNC:31924 ENSG00000237449 trace amine associated receptor 4, pseudogene TAAR4P Yes No Ensembl:ENSG00000237449, GeneCard:TAAR4P, HGNC:HGNC:31924, NCBI Gene:503612, RefSeq DNA:NG_004855, RefSeq DNA:NT_025741 No chr6 132915528 132916578 132594389 132595439 +PA142670843 9038 HGNC:30236 ENSG00000135569 trace amine associated receptor 5 TAAR5 PNR Yes No Ensembl:ENSG00000135569, GeneCard:TAAR5, HGNC:HGNC:30236, HumanCyc Gene:HS06029, IUPHAR Receptor:170, ModBase:O14804, NCBI Gene:9038, OMIM:607405, RefSeq DNA:NT_025741, RefSeq Protein:NP_003958, RefSeq RNA:NM_003967, UniProtKB:O14804 No chr6 132909731 132910877 132588592 132589738 +PA134881141 319100 HGNC:20978 ENSG00000146383 trace amine associated receptor 6 TAAR6 SCZD5, TA4, TRAR4 Yes Yes Comparative Toxicogenomics Database:319100, Ensembl:ENSG00000146383, GeneCard:TAAR6, HGNC:HGNC:20978, HumanCyc Gene:HS07345, IUPHAR Receptor:171, ModBase:Q96RI8, NCBI Gene:319100, OMIM:603175, OMIM:608923, RefSeq DNA:NG_016544, RefSeq DNA:NT_025741, RefSeq Protein:NP_778237, RefSeq RNA:NM_175067, UniProtKB:Q96RI8 No chr6 132891461 132892498 132570322 132571359 +PA142670844 503611 HGNC:31925 ENSG00000235998 trace amine associated receptor 7, pseudogene TAAR7P Yes No Ensembl:ENSG00000235998, GeneCard:TAAR7P, HGNC:HGNC:31925, NCBI Gene:503611, RefSeq DNA:NG_004854, RefSeq DNA:NT_025741 No chr6 132880163 132880372 132559024 132559233 +PA28850 83551 HGNC:14964 ENSG00000146385 trace amine associated receptor 8 TAAR8 GPR102, TA5, TAR5, TRAR5 Yes No Ensembl:ENSG00000146385, GenAtlas:TAAR8, GeneCard:TAAR8, HGNC:HGNC:14964, HumanCyc Gene:HS07346, IUPHAR Receptor:172, ModBase:Q969N4, NCBI Gene:83551, OMIM:606927, RefSeq DNA:NT_025741, RefSeq Protein:NP_444508, RefSeq RNA:NM_053278, UCSC Genome Browser:NM_053278, UniProtKB:Q969N4 No chr6 132873832 132874860 132552693 132553721 +PA134931528 134860 HGNC:20977 ENSG00000237110 trace amine associated receptor 9 TAAR9 trace amine associated receptor 9 (gene/pseudogene) TA3, TAR3, TRAR3 Yes No Ensembl:ENSG00000237110, GeneCard:TAAR9, HGNC:HGNC:20977, IUPHAR Receptor:173, ModBase:Q96RI9, NCBI Gene:134860, OMIM:608282, RefSeq DNA:NT_025741, RefSeq Protein:NP_778227, RefSeq RNA:NM_175057, UniProtKB:Q96RI9 No chr6 132859427 132860475 132538288 132539336 +PA30604 10454 HGNC:18157 ENSG00000100324 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 TAB1 TAK1-binding protein 1, TGF-beta activated kinase 1/MAP3K7 binding protein 1, mitogen-activated protein kinase kinase kinase 7 interacting protein 1 MAP3K7IP1 Yes No Comparative Toxicogenomics Database:10454, Ensembl:ENSG00000100324, GenAtlas:MAP3K7IP1, GeneCard:MAP3K7IP1, GeneCard:TAB1, HGNC:HGNC:18157, HumanCyc Gene:HS02044, ModBase:Q15750, NCBI Gene:10454, OMIM:602615, RefSeq DNA:NT_011520, RefSeq Protein:NP_006107, RefSeq Protein:NP_705717, RefSeq RNA:NM_006116, RefSeq RNA:NM_153497, UCSC Genome Browser:NM_006116, UniProtKB:A8K6K3, UniProtKB:Q15750, UniProtKB:Q8IZW2 No chr22 39795759 39833132 39399754 39437127 +PA30605 23118 HGNC:17075 ENSG00000055208 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 TAB2 TAK1 binding protein 2, TGF-beta activated kinase 1/MAP3K7 binding protein 2 KIAA0733, MAP3K7IP2 Yes Yes Comparative Toxicogenomics Database:23118, Ensembl:ENSG00000055208, GenAtlas:MAP3K7IP2, GeneCard:MAP3K7IP2, GeneCard:TAB2, HGNC:HGNC:17075, HumanCyc Gene:HS12142, ModBase:Q9NYJ8, NCBI Gene:23118, OMIM:605101, RefSeq DNA:NG_021386, RefSeq DNA:NT_025741, RefSeq Protein:NP_055908, RefSeq RNA:NM_015093, UCSC Genome Browser:NM_015093, UniProtKB:Q9NYJ8 No chr6 149639436 149732747 149217924 149411613 +PA165757406 257397 HGNC:30681 ENSG00000157625 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 TAB3 TAK1 binding protein 3, TGF-beta activated kinase 1/MAP3K7 binding protein 3 MAP3K7IP3 Yes No Comparative Toxicogenomics Database:257397, Ensembl:ENSG00000157625, GeneCard:TAB3, HGNC:HGNC:30681, HumanCyc Gene:HS14672, NCBI Gene:257397, OMIM:300480, RefSeq DNA:NG_012845, RefSeq DNA:NT_011757, RefSeq DNA:NT_167197, RefSeq Protein:NP_690000, RefSeq RNA:NM_152787, UniProtKB:Q8N5C8 No chrX 30845559 30907511 30827442 30889394 +PA145149069 727682 HGNC:20176 ENSG00000231542 TAB3 antisense RNA 1 TAB3-AS1 OTTHUMG00000021331 Yes No Ensembl:ENSG00000231542, GeneCard:TAB3-AS1, HGNC:HGNC:20176, NCBI Gene:727682 No chrX +PA36297 6863 HGNC:11517 ENSG00000006128 tachykinin precursor 1 TAC1 """neurokinin 1"", ""neurokinin 2"", ""neurokinin alpha"", ""neuromedin L"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"", ""protachykinin"", ""substance K"", ""substance P"", ""tachykinin, precursor 1""" NKNA, NPK, TAC2 Yes Yes Comparative Toxicogenomics Database:6863, Ensembl:ENSG00000006128, GenAtlas:TAC1, GeneCard:TAC1, HGNC:HGNC:11517, HumanCyc Gene:HS00170, NCBI Gene:6863, OMIM:162320, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_003173, RefSeq Protein:NP_054702, RefSeq Protein:NP_054703, RefSeq Protein:NP_054704, RefSeq RNA:NM_003182, RefSeq RNA:NM_013996, RefSeq RNA:NM_013997, RefSeq RNA:NM_013998, UCSC Genome Browser:NM_003182, UniProtKB:P20366, UniProtKB:Q9Y494 No chr7 97361271 97369784 97731959 97740472 +PA36298 6866 HGNC:11521 ENSG00000166863 tachykinin precursor 3 TAC3 preprotachykinin-B, tachykinin 3 LncZBTB39, LncZBTB39-1:2, NK3, NKB, NKNB, ZNEUROK1 Yes No Comparative Toxicogenomics Database:6866, Ensembl:ENSG00000166863, GenAtlas:TAC3, GeneCard:TAC3, HGNC:HGNC:11521, HumanCyc Gene:HS09466, NCBI Gene:6866, OMIM:146110, OMIM:162330, RefSeq DNA:NG_021398, RefSeq DNA:NT_029419, RefSeq Protein:NP_001171525, RefSeq Protein:NP_037383, RefSeq RNA:NM_001178054, RefSeq RNA:NM_013251, RefSeq RNA:NR_033654, UCSC Genome Browser:NM_013251, UniProtKB:Q9UHF0 No chr12 57403781 57410344 57009997 57016560 +PA134944925 255061 HGNC:16641 ENSG00000176358 tachykinin precursor 4 TAC4 hemokinin, tachykinin 4, tachykinin 4 (hemokinin) HK-1, PPT-C, Pptc Yes No Ensembl:ENSG00000176358, GeneCard:TAC4, HGNC:HGNC:16641, HumanCyc Gene:HS16640, NCBI Gene:255061, OMIM:607833, RefSeq DNA:NT_010783, RefSeq Protein:NP_001070971, RefSeq Protein:NP_001070972, RefSeq Protein:NP_001070973, RefSeq Protein:NP_001070974, RefSeq Protein:NP_733786, RefSeq RNA:NM_001077503, RefSeq RNA:NM_001077504, RefSeq RNA:NM_001077505, RefSeq RNA:NM_001077506, RefSeq RNA:NM_170685, UniProtKB:Q86UU9 No chr17 47915671 47925379 49838309 49848017 +PA36299 6867 HGNC:11522 ENSG00000147526 transforming acidic coiled-coil containing protein 1 TACC1 transforming, acidic coiled-coil containing protein 1 Yes No Comparative Toxicogenomics Database:6867, Ensembl:ENSG00000147526, GenAtlas:TACC1, GeneCard:TACC1, HGNC:HGNC:11522, HumanCyc Gene:HS07445, ModBase:Q9UPP9, NCBI Gene:6867, OMIM:605301, RefSeq DNA:NT_167187, RefSeq Protein:NP_001116296, RefSeq Protein:NP_001139688, RefSeq Protein:NP_006274, RefSeq RNA:NM_001122824, RefSeq RNA:NM_001146216, RefSeq RNA:NM_006283, UCSC Genome Browser:NM_006283, UniProtKB:O75410, UniProtKB:Q5HYH0 No chr8 38585704 38710546 38728186 38853028 +PA36300 10579 HGNC:11523 ENSG00000138162 transforming acidic coiled-coil containing protein 2 TACC2 transforming, acidic coiled-coil containing protein 2 AZU-1, ECTACC Yes No Comparative Toxicogenomics Database:10579, Ensembl:ENSG00000138162, GenAtlas:TACC2, GeneCard:TACC2, HGNC:HGNC:11523, HumanCyc Gene:HS06467, ModBase:Q8TCK9, NCBI Gene:10579, OMIM:605302, RefSeq DNA:NT_030059, RefSeq Protein:NP_008928, RefSeq Protein:NP_996742, RefSeq Protein:NP_996743, RefSeq Protein:NP_996744, RefSeq RNA:NM_006997, RefSeq RNA:NM_206860, RefSeq RNA:NM_206861, RefSeq RNA:NM_206862, UCSC Genome Browser:NM_006997, UniProtKB:O95359 No chr10 123748689 124014057 121989174 122254545 +PA36301 10460 HGNC:11524 ENSG00000013810 transforming acidic coiled-coil containing protein 3 TACC3 transforming, acidic coiled-coil containing protein 3 ERIC-1, ERIC1, Tacc4, maskin Yes No Comparative Toxicogenomics Database:10460, Ensembl:ENSG00000013810, GenAtlas:TACC3, GeneCard:TACC3, HGNC:HGNC:11524, HumanCyc Gene:HS00356, ModBase:Q9Y6A5, NCBI Gene:10460, OMIM:109800, OMIM:605303, RefSeq DNA:NT_006051, RefSeq Protein:NP_006333, RefSeq RNA:NM_006342, UCSC Genome Browser:NM_006342, UniProtKB:Q9Y6A5 No chr4 1723217 1746905 1721383 1745178 +PA165433031 51204 HGNC:24316 ENSG00000136463 translational activator of cytochrome c oxidase I TACO1 translational activator of COX I, translational activator of mitochondrially encoded cytochrome c oxidase I CCDC44 Yes No Comparative Toxicogenomics Database:51204, Ensembl:ENSG00000136463, GeneCard:TACO1, HGNC:HGNC:24316, HumanCyc Gene:HS13630, ModBase:Q9BSH4, NCBI Gene:51204, OMIM:612958, RefSeq DNA:NG_016979, RefSeq DNA:NT_010783, RefSeq Protein:NP_057444, RefSeq RNA:NM_016360, UniProtKB:Q9BSH4 No chr17 61678231 61685725 63600872 63608365 +PA36302 6869 HGNC:11526 ENSG00000115353 tachykinin receptor 1 TACR1 neurokinin receptor 1, substance-P receptor NK1R, NKIR, SPR, TAC1R Yes Yes Comparative Toxicogenomics Database:6869, Ensembl:ENSG00000115353, GenAtlas:TACR1, GeneCard:TACR1, HGNC:HGNC:11526, HumanCyc Gene:HS03875, IUPHAR Receptor:360, ModBase:P25103, NCBI Gene:6869, OMIM:162323, RefSeq DNA:NT_022184, RefSeq Protein:NP_001049, RefSeq Protein:NP_056542, RefSeq RNA:NM_001058, RefSeq RNA:NM_015727, UCSC Genome Browser:NM_001058, UniProtKB:P25103 No chr2 75273590 75426645 75046463 75199519 +PA36303 6865 HGNC:11527 ENSG00000075073 tachykinin receptor 2 TACR2 neurokinin A receptor, neurokinin B receptor, substance-K receptor NK2R, NKNAR, SKR, TAC2R Yes No Comparative Toxicogenomics Database:6865, Ensembl:ENSG00000075073, GenAtlas:TACR2, GeneCard:TACR2, HGNC:HGNC:11527, HumanCyc Gene:HS01158, IUPHAR Receptor:361, ModBase:P21452, NCBI Gene:6865, OMIM:162321, RefSeq DNA:NT_030059, RefSeq Protein:NP_001048, RefSeq RNA:NM_001057, UCSC Genome Browser:NM_001057, UniProtKB:P21452 No chr10 71163958 71176674 69404202 69416918 +PA36304 6870 HGNC:11528 ENSG00000169836 tachykinin receptor 3 TACR3 NK3 receptor, neurokinin B receptor, neurokinin beta receptor, neuromedin-K receptor NK3, NK3R, NKR, TAC3R Yes Yes Comparative Toxicogenomics Database:6870, Ensembl:ENSG00000169836, GenAtlas:TACR3, GeneCard:TACR3, HGNC:HGNC:11528, HumanCyc Gene:HS10014, IUPHAR Receptor:362, ModBase:P29371, NCBI Gene:6870, OMIM:146110, OMIM:162332, RefSeq DNA:NG_023344, RefSeq DNA:NT_016354, RefSeq Protein:NP_001050, RefSeq RNA:NM_001059, UCSC Genome Browser:NM_001059, UniProtKB:P29371 No chr4 104510625 104640973 103589468 103719816 +PA36305 4070 HGNC:11530 ENSG00000184292 tumor associated calcium signal transducer 2 TACSTD2 epithelial glycoprotein-1, trophoblast cell surface antigen 2, tumor-associated calcium signal transducer 2 EGP-1, GA733-1, M1S1, TROP2 Yes No Comparative Toxicogenomics Database:4070, Ensembl:ENSG00000184292, GenAtlas:TACSTD2, GeneCard:TACSTD2, HGNC:HGNC:11530, ModBase:P09758, NCBI Gene:4070, OMIM:137290, OMIM:204870, RefSeq DNA:NG_016237, RefSeq DNA:NT_032977, RefSeq Protein:NP_002344, RefSeq RNA:NM_002353, UCSC Genome Browser:NM_002353, UniProtKB:P09758 No chr1 59041095 59043166 58575423 58577494 +PA165752724 117143 HGNC:30631 ENSG00000152382 transcriptional adaptor 1 TADA1 ADA1, HFI1, STAF42, TADA1L, hADA1 Yes No Ensembl:ENSG00000152382, GeneCard:TADA1, HGNC:HGNC:30631, HumanCyc Gene:HS14428, ModBase:Q96BN2, NCBI Gene:117143, OMIM:612763, RefSeq DNA:NT_004487, RefSeq Protein:NP_444281, RefSeq RNA:NM_053053, UniProtKB:Q96BN2 No chr1 166825747 166845654 166856510 166876417 +PA36306 6871 HGNC:11531 ENSG00000276234 transcriptional adaptor 2A TADA2A ADA2, ADA2A, TADA2L, hADA2 Yes No Comparative Toxicogenomics Database:6871, Ensembl:ENSG00000276234, GenAtlas:TADA2L, GeneCard:TADA2A, GeneCard:TADA2L, HGNC:HGNC:11531, HumanCyc Gene:HS03078, ModBase:O75478, NCBI Gene:6871, OMIM:602276, RefSeq DNA:NT_010783, RefSeq DNA:NT_078100, RefSeq Protein:NP_001159577, RefSeq Protein:NP_001479, RefSeq Protein:NP_597683, RefSeq RNA:NM_001166105, RefSeq RNA:NM_001488, RefSeq RNA:NM_133439, UCSC Genome Browser:NM_001488, UniProtKB:O75478, UniProtKB:Q9BVJ0 No chr17 35766977 35839830 37406877 37479725 +PA165664556 93624 HGNC:30781 ENSG00000173011 transcriptional adaptor 2B TADA2B MGC21874 Yes No Ensembl:ENSG00000173011, GeneCard:TADA2B, HGNC:HGNC:30781, NCBI Gene:93624, OMIM:608790, RefSeq DNA:NT_006051, RefSeq Protein:NP_689506, RefSeq RNA:NM_152293, UniProtKB:Q86TJ2 No chr4 7045156 7059679 7043429 7057952 +PA165698494 10474 HGNC:19422 ENSG00000171148 transcriptional adaptor 3 TADA3 alteration/deficiency in activation 3 ADA3, FLJ20221, FLJ21329, NGG1, TADA3L, hADA3 Yes No Comparative Toxicogenomics Database:10474, Ensembl:ENSG00000171148, GeneCard:TADA3, HGNC:HGNC:19422, HumanCyc Gene:HS10257, ModBase:O75528, NCBI Gene:10474, OMIM:602945, RefSeq DNA:NT_022517, RefSeq Protein:NP_006345, RefSeq Protein:NP_597814, RefSeq RNA:NM_006354, RefSeq RNA:NM_133480, UniProtKB:O75528 No chr3 9821648 9834695 9779964 9793011 +PA36310 6872 HGNC:11535 ENSG00000147133 TATA-box binding protein associated factor 1 TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa BA2R, CCG1, CCGS, DYT3, DYT3/TAF1, KAT4, NSCL2, TAF2A, TAFII250 Yes No Comparative Toxicogenomics Database:6872, Ensembl:ENSG00000147133, GenAtlas:TAF1, GeneCard:TAF1, HGNC:HGNC:11535, HumanCyc Gene:HS07398, ModBase:Q70T02, NCBI Gene:6872, OMIM:313650, OMIM:314250, RefSeq DNA:NG_012771, RefSeq DNA:NT_011669, RefSeq Protein:NP_004597, RefSeq Protein:NP_620278, RefSeq RNA:NM_004606, RefSeq RNA:NM_138923, UCSC Genome Browser:NM_004606, UniProtKB:P21675 No chrX 70586094 70685855 71366220 71530525 +PA36318 6881 HGNC:11543 ENSG00000166337 TATA-box binding protein associated factor 10 TAF10 TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa TAF2A, TAF2H, TAFII30 Yes No Comparative Toxicogenomics Database:6881, Ensembl:ENSG00000166337, GenAtlas:TAF10, GeneCard:TAF10, HGNC:HGNC:11543, HumanCyc Gene:HS09378, ModBase:Q12962, NCBI Gene:6881, OMIM:600475, RefSeq DNA:NT_009237, RefSeq Protein:NP_006275, RefSeq RNA:NM_006284, UCSC Genome Browser:NM_006284, UniProtKB:Q12962 No chr11 6632048 6633475 6610817 6612244 +PA36319 6882 HGNC:11544 ENSG00000064995 TATA-box binding protein associated factor 11 TAF11 TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa TAF2I, TAFII28 Yes No Ensembl:ENSG00000064995, GenAtlas:TAF11, GeneCard:TAF11, HGNC:HGNC:11544, HumanCyc Gene:HS00824, ModBase:Q15544, NCBI Gene:6882, OMIM:600772, RefSeq DNA:NT_007592, RefSeq Protein:NP_005634, RefSeq RNA:NM_005643, UCSC Genome Browser:NM_005643, UniProtKB:Q15544 No chr6 34845555 34855908 34877778 34888071 +PA166352211 112488738 HGNC:53853 TATA-box binding protein associated factor 11 like 10 TAF11L10 Yes No HGNC:HGNC:53853, NCBI Gene:112488738 No 0 0 0 0 +PA166352212 112488746 HGNC:53854 TATA-box binding protein associated factor 11 like 11 TAF11L11 Yes No HGNC:HGNC:53854, NCBI Gene:112488746 No 0 0 0 0 +PA166352213 112488739 HGNC:53855 TATA-box binding protein associated factor 11 like 12 TAF11L12 Yes No HGNC:HGNC:53855, NCBI Gene:112488739 No 0 0 0 0 +PA166352214 112488747 HGNC:53856 TATA-box binding protein associated factor 11 like 13 TAF11L13 Yes No HGNC:HGNC:53856, NCBI Gene:112488747 No 0 0 0 0 +PA166352215 112488740 HGNC:53857 TATA-box binding protein associated factor 11 like 14 TAF11L14 Yes No HGNC:HGNC:53857, NCBI Gene:112488740 No 0 0 0 0 +PA166352203 391742 HGNC:53845 TATA-box binding protein associated factor 11 like 2 TAF11L2 Yes No HGNC:HGNC:53845, NCBI Gene:391742 No 0 0 0 0 +PA166352204 646103 HGNC:53846 TATA-box binding protein associated factor 11 like 3 TAF11L3 Yes No HGNC:HGNC:53846, NCBI Gene:646103 No 0 0 0 0 +PA166352205 391746 HGNC:53847 TATA-box binding protein associated factor 11 like 4 TAF11L4 Yes No HGNC:HGNC:53847, NCBI Gene:391746 No 0 0 0 0 +PA166352206 646066 HGNC:53848 TATA-box binding protein associated factor 11 like 5 TAF11L5 Yes No HGNC:HGNC:53848, NCBI Gene:646066 No 0 0 0 0 +PA166352207 391747 HGNC:53849 TATA-box binding protein associated factor 11 like 6 TAF11L6 Yes No HGNC:HGNC:53849, NCBI Gene:391747 No 0 0 0 0 +PA166352208 112488736 HGNC:53850 TATA-box binding protein associated factor 11 like 7 TAF11L7 Yes No HGNC:HGNC:53850, NCBI Gene:112488736 No 0 0 0 0 +PA166352209 112488737 HGNC:53851 TATA-box binding protein associated factor 11 like 8 TAF11L8 Yes No HGNC:HGNC:53851, NCBI Gene:112488737 No 0 0 0 0 +PA166352210 112488745 HGNC:53852 TATA-box binding protein associated factor 11 like 9 TAF11L9 Yes No HGNC:HGNC:53852, NCBI Gene:112488745 No 0 0 0 0 +PA36320 6883 HGNC:11545 ENSG00000120656 TATA-box binding protein associated factor 12 TAF12 TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa TAF2J, TAFII20 Yes No Comparative Toxicogenomics Database:6883, Ensembl:ENSG00000120656, GenAtlas:TAF12, GeneCard:TAF12, HGNC:HGNC:11545, HumanCyc Gene:HS04413, ModBase:Q16514, NCBI Gene:6883, OMIM:600773, RefSeq DNA:NT_004610, RefSeq Protein:NP_001128690, RefSeq Protein:NP_005635, RefSeq RNA:NM_001135218, RefSeq RNA:NM_005644, UCSC Genome Browser:NM_005644, UniProtKB:Q16514 No chr1 28929608 28975416 28603096 28648707 +PA36321 6884 HGNC:11546 ENSG00000197780 TATA-box binding protein associated factor 13 TAF13 """TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa"", ""Transcription initiation factor TFIID subunit 13""" TAF2K, TAFII18 Yes No Ensembl:ENSG00000197780, GenAtlas:TAF13, GeneCard:TAF13, HGNC:HGNC:11546, NCBI Gene:6884, OMIM:600774, RefSeq DNA:NT_032977, RefSeq Protein:NP_005636, RefSeq RNA:NM_005645, UCSC Genome Browser:NM_005645, UniProtKB:Q15543 No chr1 109606998 109618624 109064376 109076002 +PA38645 246112 HGNC:18699 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor pseudogene 1 TAF13P1 Yes No GenAtlas:TAF13P, GeneCard:TAF13P1, HGNC:HGNC:18699, NCBI Gene:246112, RefSeq DNA:NG_001573, RefSeq DNA:NT_007299 No chr6 88135334 88135755 87425640 87426056 +PA36322 8148 HGNC:11547 ENSG00000270647 TATA-box binding protein associated factor 15 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa Npl3, RBP56, TAF2N, hTAFII68 Yes No Comparative Toxicogenomics Database:8148, Ensembl:ENSG00000270647, GenAtlas:TAF15, GeneCard:TAF15, HGNC:HGNC:11547, HumanCyc Gene:HS10550, ModBase:Q92804, NCBI Gene:8148, OMIM:601574, OMIM:612237, RefSeq DNA:NG_023279, RefSeq DNA:NT_010799, RefSeq Protein:NP_003478, RefSeq Protein:NP_631961, RefSeq RNA:NM_003487, RefSeq RNA:NM_139215, UCSC Genome Browser:NM_003487, UniProtKB:Q86X94, UniProtKB:Q92804 No chr17 34136459 34174246 35809455 35847242 +PA36307 9015 HGNC:11532 ENSG00000143498 TATA-box binding protein associated factor, RNA polymerase I subunit A TAF1A TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa SL1, TAFI48 Yes No Comparative Toxicogenomics Database:9015, Ensembl:ENSG00000143498, GenAtlas:TAF1A, GeneCard:TAF1A, HGNC:HGNC:11532, HumanCyc Gene:HS07065, ModBase:Q15573, NCBI Gene:9015, OMIM:604903, RefSeq DNA:NT_167186, RefSeq Protein:NP_001188465, RefSeq Protein:NP_005672, RefSeq Protein:NP_647603, RefSeq RNA:NM_001201536, RefSeq RNA:NM_005681, RefSeq RNA:NM_139352, UCSC Genome Browser:NM_005681, UniProtKB:Q15573 No chr1 222730990 222763438 222557902 222590096 +PA36308 9014 HGNC:11533 ENSG00000115750 TATA-box binding protein associated factor, RNA polymerase I subunit B TAF1B TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa RAF1B, RAFI63, SL1, TAFI63 Yes No Comparative Toxicogenomics Database:9014, Ensembl:ENSG00000115750, GenAtlas:TAF1B, GeneCard:TAF1B, HGNC:HGNC:11533, HumanCyc Gene:HS03933, NCBI Gene:9014, OMIM:604904, RefSeq DNA:NT_005334, RefSeq Protein:NP_005671, RefSeq RNA:NM_005680, UCSC Genome Browser:NM_005680, UniProtKB:B4DI42, UniProtKB:Q53T94 No chr2 9983571 10074545 9843442 9934416 +PA36309 9013 HGNC:11534 ENSG00000103168 TATA-box binding protein associated factor, RNA polymerase I subunit C TAF1C TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa MGC:39976, SL1, TAFI110, TAFI95 Yes No Ensembl:ENSG00000103168, GenAtlas:TAF1C, GeneCard:TAF1C, HGNC:HGNC:11534, HumanCyc Gene:HS02464, ModBase:Q15572, NCBI Gene:9013, OMIM:604905, RefSeq DNA:NT_010498, RefSeq Protein:NP_005670, RefSeq Protein:NP_647610, RefSeq RNA:NM_005679, RefSeq RNA:NM_139353, UCSC Genome Browser:NM_005679, UniProtKB:Q15572 No chr16 84211453 84220676 84177847 84187070 +PA164726421 79101 HGNC:28759 ENSG00000166012 TATA-box binding protein associated factor, RNA polymerase I subunit D TAF1D TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa JOSD3, MGC5306, TAF(I)41 Yes No Comparative Toxicogenomics Database:79101, Ensembl:ENSG00000166012, GeneCard:TAF1D, HGNC:HGNC:28759, HumanCyc Gene:HS15393, ModBase:Q9H5J8, NCBI Gene:79101, OMIM:612823, RefSeq DNA:NT_008984, RefSeq DNA:NT_167190, RefSeq Protein:NP_077021, RefSeq RNA:NM_024116, UniProtKB:Q9H5J8 No chr11 93463368 93474703 93735929 93741537 +PA134947802 138474 HGNC:18056 ENSG00000122728 TATA-box binding protein associated factor 1 like TAF1L TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like Yes No Ensembl:ENSG00000122728, GeneCard:TAF1L, HGNC:HGNC:18056, HumanCyc Gene:HS13067, ModBase:Q8IZX4, NCBI Gene:138474, OMIM:607798, RefSeq DNA:NT_008413, RefSeq Protein:NP_722516, RefSeq RNA:NM_153809, UniProtKB:Q8IZX4 No chr9 32629452 32635667 32629454 32635669 +PA36311 6873 HGNC:11536 ENSG00000064313 TATA-box binding protein associated factor 2 TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa CIF150, TAF2B, TAFII150 Yes No Comparative Toxicogenomics Database:6873, Ensembl:ENSG00000064313, GenAtlas:TAF2, GeneCard:TAF2, HGNC:HGNC:11536, HumanCyc Gene:HS00802, ModBase:Q6P1X5, NCBI Gene:6873, OMIM:604912, RefSeq DNA:NT_008046, RefSeq Protein:NP_003175, RefSeq RNA:NM_003184, UCSC Genome Browser:NM_003184, UniProtKB:B3KMD8, UniProtKB:Q6P1X5 No chr8 120743014 120845074 119730774 119832858 +PA38222 83860 HGNC:17303 ENSG00000165632 TATA-box binding protein associated factor 3 TAF3 TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa TAF140, TAFII140 Yes No Ensembl:ENSG00000165632, GenAtlas:TAF3, GeneCard:TAF3, HGNC:HGNC:17303, HumanCyc Gene:HS15346, ModBase:Q5VWG9, NCBI Gene:83860, OMIM:606576, RefSeq DNA:NT_008705, RefSeq Protein:NP_114129, RefSeq RNA:NM_031923, UniProtKB:Q5VWG9 No chr10 7860467 8057016 7818477 8016631 +PA36312 6874 HGNC:11537 ENSG00000130699 TATA-box binding protein associated factor 4 TAF4 TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa TAF2C, TAF2C1, TAF4A, TAFII130, TAFII135 Yes No Comparative Toxicogenomics Database:6874, Ensembl:ENSG00000130699, GenAtlas:TAF4, GeneCard:TAF4, HGNC:HGNC:11537, HumanCyc Gene:HS05420, ModBase:O00268, NCBI Gene:6874, OMIM:601796, RefSeq DNA:NT_011362, RefSeq Protein:NP_003176, RefSeq RNA:NM_003185, UCSC Genome Browser:NM_003185, UniProtKB:O00268 No chr20 60549854 60640866 61974798 62065810 +PA36313 6875 HGNC:11538 ENSG00000141384 TATA-box binding protein associated factor 4b TAF4B """TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa"", ""TATA box binding protein (TBP)-associated factor 4B""" TAF2C2, TAFII105 Yes No Ensembl:ENSG00000141384, GenAtlas:TAF4B, GeneCard:TAF4B, HGNC:HGNC:11538, HumanCyc Gene:HS06820, ModBase:Q92750, NCBI Gene:6875, OMIM:601689, RefSeq DNA:NT_010966, RefSeq Protein:NP_005631, RefSeq RNA:NM_005640, UniProtKB:Q92750 No chr18 23806409 23971649 26226491 26391685 +PA36314 6877 HGNC:11539 ENSG00000148835 TATA-box binding protein associated factor 5 TAF5 TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa TAF2D, TAFII100 Yes No Ensembl:ENSG00000148835, GenAtlas:TAF5, GeneCard:TAF5, HGNC:HGNC:11539, HumanCyc Gene:HS07565, ModBase:Q15542, NCBI Gene:6877, OMIM:601787, RefSeq DNA:NT_030059, RefSeq Protein:NP_008882, RefSeq RNA:NM_006951, UCSC Genome Browser:NM_006951, UniProtKB:Q15542 No chr10 105127724 105148822 103367953 103389065 +PA38223 27097 HGNC:17304 ENSG00000135801 TATA-box binding protein associated factor 5 like TAF5L """PCAF associated factor 65 beta"", ""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa""" PAF65B Yes No Comparative Toxicogenomics Database:27097, Ensembl:ENSG00000135801, GenAtlas:TAF5L, GeneCard:TAF5L, HGNC:HGNC:17304, HumanCyc Gene:HS06065, ModBase:O75529, NCBI Gene:27097, RefSeq DNA:NT_167186, RefSeq Protein:NP_001020418, RefSeq Protein:NP_055224, RefSeq RNA:NM_001025247, RefSeq RNA:NM_014409, UCSC Genome Browser:NM_014409, UniProtKB:O75529 No chr1 229728858 229761794 229593111 229626047 +PA142670840 645744 HGNC:24115 ENSG00000267369 TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa pseudogene 1 TAF5LP1 HsT33855 Yes No Ensembl:ENSG00000267369, GeneCard:TAF5LP, HGNC:HGNC:24115, NCBI Gene:645744 No chr17 33825235 33826200 35498216 35499181 +PA36315 6878 HGNC:11540 ENSG00000106290 TATA-box binding protein associated factor 6 TAF6 """TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa"", ""transcription initiation factor TFIID 70 kD subunit""" MGC:8964, TAF2E, TAFII70, TAFII80, TAFII85 Yes No Comparative Toxicogenomics Database:6878, Ensembl:ENSG00000106290, GenAtlas:TAF6, GeneCard:TAF6, HGNC:HGNC:11540, HumanCyc Gene:HS02881, ModBase:P49848, NCBI Gene:6878, OMIM:602955, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001177344, RefSeq Protein:NP_005632, RefSeq Protein:NP_620834, RefSeq Protein:NP_620835, RefSeq Protein:NP_647476, RefSeq RNA:NM_001190415, RefSeq RNA:NM_005641, RefSeq RNA:NM_139122, RefSeq RNA:NM_139123, RefSeq RNA:NM_139315, RefSeq RNA:NR_033792, UCSC Genome Browser:NM_005641, UniProtKB:B4DT11, UniProtKB:P49848 No chr7 99704693 99717481 100107070 100119858 +PA38224 10629 HGNC:17305 ENSG00000162227 TATA-box binding protein associated factor 6 like TAF6L TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa PAF65A Yes No Ensembl:ENSG00000162227, GenAtlas:TAF6L, GeneCard:TAF6L, HGNC:HGNC:17305, HumanCyc Gene:HS08650, ModBase:Q9Y6J9, NCBI Gene:10629, OMIM:602946, RefSeq DNA:NT_167190, RefSeq Protein:NP_006464, RefSeq RNA:NM_006473, UCSC Genome Browser:NM_006473, UniProtKB:Q9Y6J9 No chr11 62538775 62554814 62771303 62787342 +PA36316 6879 HGNC:11541 ENSG00000178913 TATA-box binding protein associated factor 7 TAF7 TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa TAF2F, TAFII55 Yes No Comparative Toxicogenomics Database:6879, Ensembl:ENSG00000178913, GenAtlas:TAF7, GeneCard:TAF7, HGNC:HGNC:11541, HumanCyc Gene:HS11327, ModBase:Q15545, NCBI Gene:6879, OMIM:600573, RefSeq DNA:NG_000012, RefSeq DNA:NT_029289, RefSeq Protein:NP_005633, RefSeq RNA:NM_005642, UCSC Genome Browser:NM_005642, UniProtKB:Q15545 No chr5 140698057 140700351 141318490 141320784 +PA36323 54457 HGNC:11548 ENSG00000102387 TATA-box binding protein associated factor 7 like TAF7L """TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa"", ""cancer/testis antigen 40""" CT40, TAF2Q Yes No Ensembl:ENSG00000102387, GenAtlas:TAF7L, GeneCard:TAF7L, HGNC:HGNC:11548, HumanCyc Gene:HS12482, NCBI Gene:54457, OMIM:300314, RefSeq DNA:NG_016220, RefSeq DNA:NT_011651, RefSeq Protein:NP_001161946, RefSeq Protein:NP_079161, RefSeq RNA:NM_001168474, RefSeq RNA:NM_024885, UCSC Genome Browser:NM_024885, UniProtKB:Q5H9L4 No chrX 100523241 100548059 101268253 101293071 +PA162405144 129685 HGNC:17300 ENSG00000137413 TATA-box binding protein associated factor 8 TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa FLJ32821, TAF(II)43, TBN Yes No Ensembl:ENSG00000137413, GeneCard:TAF8, HGNC:HGNC:17300, ModBase:Q7Z7C8, NCBI Gene:129685, OMIM:609514, RefSeq DNA:NT_007592, RefSeq Protein:NP_612639, RefSeq RNA:NM_138572, UniProtKB:Q7Z7C8 No chr6 42018251 42055093 42050513 42083274 +PA36317 6880 HGNC:11542 ENSG00000273841 TATA-box binding protein associated factor 9 TAF9 """TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa"", ""adenylate kinase 6"", ""coilin interacting protein""" AD-004, AK6, CGI-137, CINAP, MGC1603, MGC3647, MGC5067, TAF2G, TAFII31, TAFII32, TAFIID32 Yes No Comparative Toxicogenomics Database:6880, Ensembl:ENSG00000273841, GenAtlas:TAF9, GeneCard:TAF9, HGNC:HGNC:11542, HumanCyc Gene:HS05812, ModBase:Q16594, NCBI Gene:6880, OMIM:600822, RefSeq DNA:NT_006713, RefSeq Protein:NP_001015891, RefSeq Protein:NP_001015892, RefSeq Protein:NP_003178, RefSeq Protein:NP_057367, RefSeq RNA:NM_001015891, RefSeq RNA:NM_001015892, RefSeq RNA:NM_003187, RefSeq RNA:NM_016283, UCSC Genome Browser:NM_003187, UniProtKB:A8MSZ6, UniProtKB:Q16594, UniProtKB:Q5F2S9, UniProtKB:Q9Y3D8 No chr5 68647551 68665840 69364743 69370013 +PA38225 51616 HGNC:17306 ENSG00000187325 TATA-box binding protein associated factor 9b TAF9B TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa DN-7, DN7, TAF9L, TAFII31L, TFIID-31 Yes No Comparative Toxicogenomics Database:51616, Ensembl:ENSG00000187325, GenAtlas:TAF9B, GeneCard:TAF9B, HGNC:HGNC:17306, HumanCyc Gene:HS01487, ModBase:Q9HBM6, NCBI Gene:51616, OMIM:300754, RefSeq DNA:NG_012570, RefSeq DNA:NT_011651, RefSeq Protein:NP_057059, RefSeq RNA:NM_015975, UCSC Genome Browser:NM_015975, UniProtKB:Q9HBM6 No chrX 77385245 77396490 78129748 78139682 +PA134970674 360002 HGNC:31743 ENSG00000226353 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 1 TAF9P1 Yes No Ensembl:ENSG00000226353, GeneCard:TAF9P1, HGNC:HGNC:31743, NCBI Gene:360002, RefSeq DNA:NT_011875 No chrY 19740293 19741672 17628413 17629792 +PA134978082 360003 HGNC:31744 ENSG00000229302 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 2 TAF9P2 Yes No Ensembl:ENSG00000229302, GeneCard:TAF9P2, HGNC:HGNC:31744, NCBI Gene:360003, RefSeq DNA:NT_011875 No chrY 20438166 20439381 18276280 18277495 +PA134907870 407738 HGNC:21587 ENSG00000183662 TAFA chemokine like family member 1 TAFA1 """family with sequence similarity 19 (chemokine (C-C motif)-like), member A1"", ""family with sequence similarity 19 member A1, C-C motif chemokine like""" FAM19A1, TAFA-1, TAFA1 Yes No Ensembl:ENSG00000183662, GeneCard:FAM19A1, HGNC:HGNC:21587, ModBase:Q7Z5A9, NCBI Gene:407738, RefSeq DNA:NT_022459, RefSeq Protein:NP_998774, RefSeq RNA:NM_213609, UniProtKB:Q7Z5A9 No chr3 68040734 68594772 67991592 68546056 +PA134974674 338811 HGNC:21589 ENSG00000198673 TAFA chemokine like family member 2 TAFA2 """family with sequence similarity 19 (chemokine (C-C motif)-like), member A2"", ""family with sequence similarity 19 member A2, C-C motif chemokine like""" FAM19A2, TAFA-2, TAFA2 Yes No Ensembl:ENSG00000198673, GeneCard:FAM19A2, HGNC:HGNC:21589, ModBase:Q8N3H0, NCBI Gene:338811, RefSeq DNA:NT_029419, RefSeq Protein:NP_848634, RefSeq RNA:NM_178539, UniProtKB:Q8N3H0 No chr12 62102029 62586620 61708248 62192839 +PA134899352 284467 HGNC:21590 ENSG00000184599 TAFA chemokine like family member 3 TAFA3 """family with sequence similarity 19 (chemokine (C-C motif)-like), member A3"", ""family with sequence similarity 19 member A3, C-C motif chemokine like""" FAM19A3, TAFA-3, TAFA3 Yes No Ensembl:ENSG00000184599, GeneCard:FAM19A3, HGNC:HGNC:21590, NCBI Gene:284467, RefSeq DNA:NT_032977, RefSeq Protein:NP_001004440, RefSeq Protein:NP_877436, RefSeq RNA:NM_001004440, RefSeq RNA:NM_182759, UniProtKB:Q7Z5A8 No chr1 113261619 113269857 112719003 112727235 +PA134873006 151647 HGNC:21591 ENSG00000163377 TAFA chemokine like family member 4 TAFA4 """family with sequence similarity 19 (chemokine (C-C motif)-like), member A4"", ""family with sequence similarity 19 member A4, C-C motif chemokine like""" FAM19A4, TAFA-4 Yes No Comparative Toxicogenomics Database:151647, Ensembl:ENSG00000163377, GeneCard:FAM19A4, HGNC:HGNC:21591, ModBase:Q96LR4, NCBI Gene:151647, RefSeq DNA:NT_022459, RefSeq Protein:NP_001005527, RefSeq Protein:NP_872328, RefSeq RNA:NM_001005527, RefSeq RNA:NM_182522, UniProtKB:Q96LR4 No chr3 68780915 68981761 68731764 68932610 +PA134887312 25817 HGNC:21592 ENSG00000219438 TAFA chemokine like family member 5 TAFA5 """family with sequence similarity 19 (chemokine (C-C motif)-like), member A5"", ""family with sequence similarity 19 member A5, C-C motif chemokine like""" FAM19A5, TAFA-5 Yes Yes Ensembl:ENSG00000219438, GeneCard:FAM19A5, HGNC:HGNC:21592, ModBase:Q7Z5A7, NCBI Gene:25817, RefSeq DNA:NT_011520, RefSeq Protein:NP_001076436, RefSeq Protein:NP_056196, RefSeq RNA:NM_001082967, RefSeq RNA:NM_015381, UniProtKB:Q7Z5A7 No chr22 48885288 49147744 48489460 48751935 +PA166352216 6901 HGNC:11577 tafazzin, phospholipid-lysophospholipid transacylase TAFAZZIN Barth syndrome, CMD3A, EFE, EFE2, TAZ BTHS, G4.5, TAZ1 Yes No HGNC:HGNC:11577, NCBI Gene:6901 No 0 0 0 0 +PA38016 117289 HGNC:15669 ENSG00000164691 T cell activation RhoGTPase activating protein TAGAP T-cell activation RhoGTPase activating protein ARHGAP47, FLJ32631, IDDM21 Yes Yes Comparative Toxicogenomics Database:117289, Ensembl:ENSG00000164691, GenAtlas:TAGAP, GeneCard:TAGAP, HGNC:HGNC:15669, HumanCyc Gene:HS15232, ModBase:Q8N103, NCBI Gene:117289, OMIM:609667, OMIM:612521, RefSeq DNA:NG_011524, RefSeq DNA:NT_025741, RefSeq Protein:NP_473455, RefSeq Protein:NP_620165, RefSeq Protein:NP_687034, RefSeq RNA:NM_054114, RefSeq RNA:NM_138810, RefSeq RNA:NM_152133, UCSC Genome Browser:NM_054114, UniProtKB:Q8N103 No chr6 159455500 159466184 159034468 159045152 +PA36324 6876 HGNC:11553 ENSG00000149591 transgelin TAGLN SM22-alpha, transgelin variant 2 DKFZp686P11128, SM22, SMCC, TAGLN1, TGLN, WS3-10 Yes No Comparative Toxicogenomics Database:6876, Ensembl:ENSG00000149591, GenAtlas:TAGLN, GeneCard:TAGLN, HGNC:HGNC:11553, HumanCyc Gene:HS07630, ModBase:Q01995, NCBI Gene:6876, OMIM:600818, RefSeq DNA:NT_033899, RefSeq Protein:NP_001001522, RefSeq Protein:NP_003177, RefSeq RNA:NM_001001522, RefSeq RNA:NM_003186, UCSC Genome Browser:NM_003186, UniProtKB:Q01995, UniProtKB:Q5U0D2 No chr11 117070040 117075508 117199324 117204792 +PA36325 8407 HGNC:11554 ENSG00000158710 transgelin 2 TAGLN2 SM22-alpha homolog HA1756, KIAA0120 Yes No Comparative Toxicogenomics Database:8407, Ensembl:ENSG00000158710, GenAtlas:TAGLN2, GeneCard:TAGLN2, HGNC:HGNC:11554, ModBase:P37802, NCBI Gene:8407, OMIM:604634, RefSeq DNA:NT_004487, RefSeq Protein:NP_003555, RefSeq RNA:NM_003564, UCSC Genome Browser:NM_003564, UniProtKB:P37802 No chr1 159887897 159895332 159918107 159925542 +PA134939895 100418887 HGNC:21739 ENSG00000253676 transgelin 2 pseudogene 1 TAGLN2P1 Yes No Ensembl:ENSG00000253676, GeneCard:TAGLN2P1, HGNC:HGNC:21739, NCBI Gene:100418887 No chr8 107709655 107710268 106697427 106698040 +PA134896772 642319 HGNC:31039 transgelin 2 pseudogene 2 TAGLN2P2 Yes No GeneCard:TAGLN2P2, HGNC:HGNC:31039, NCBI Gene:642319 No chr8 30107021 30107635 30249505 30250119 +PA134896732 29114 HGNC:29868 ENSG00000144834 transgelin 3 TAGLN3 NP22, NP25 Yes No Ensembl:ENSG00000144834, GeneCard:TAGLN3, HGNC:HGNC:29868, HumanCyc Gene:HS07208, ModBase:Q9UI15, NCBI Gene:29114, OMIM:607953, RefSeq DNA:NT_005612, RefSeq Protein:NP_001008273, RefSeq Protein:NP_001008274, RefSeq Protein:NP_037391, RefSeq RNA:NM_001008272, RefSeq RNA:NM_001008273, RefSeq RNA:NM_013259, UniProtKB:Q9UI15 No chr3 111717586 111732735 111998739 112013888 +PA36326 6886 HGNC:11556 ENSG00000162367 TAL bHLH transcription factor 1, erythroid differentiation factor TAL1 T-cell acute lymphocytic leukemia 1 SCL, TCL5, bHLHa17 Yes No Comparative Toxicogenomics Database:6886, Ensembl:ENSG00000162367, GenAtlas:TAL1, GeneCard:TAL1, HGNC:HGNC:11556, HumanCyc Gene:HS08662, ModBase:P17542, NCBI Gene:6886, OMIM:187040, RefSeq DNA:NT_032977, RefSeq Protein:NP_003180, RefSeq RNA:NM_003189, UCSC Genome Browser:NM_003189, UniProtKB:P17542 No chr1 47681962 47697938 47216290 47232389 +PA36327 6887 HGNC:11557 ENSG00000186051 TAL bHLH transcription factor 2 TAL2 T-cell acute lymphocytic leukemia 2 bHLHa19 Yes No Comparative Toxicogenomics Database:6887, Ensembl:ENSG00000186051, GenAtlas:TAL2, GeneCard:TAL2, HGNC:HGNC:11557, ModBase:Q16559, NCBI Gene:6887, OMIM:186855, RefSeq DNA:NT_008470, RefSeq Protein:NP_005412, RefSeq RNA:NM_005421, UCSC Genome Browser:NM_005421, UniProtKB:Q16559 No chr9 108418562 108425393 105662457 105663112 +PA36328 6888 HGNC:11559 ENSG00000177156 transaldolase 1 TALDO1 Yes No Comparative Toxicogenomics Database:6888, Ensembl:ENSG00000177156, GenAtlas:TALDO1, GeneCard:TALDO1, HGNC:HGNC:11559, HumanCyc Gene:HS11132, ModBase:P37837, NCBI Gene:6888, OMIM:602063, OMIM:606003, RefSeq DNA:NG_008160, RefSeq DNA:NT_009237, RefSeq Protein:NP_006746, RefSeq RNA:NM_006755, UCSC Genome Browser:NM_006755, UniProtKB:P37837 No chr11 747417 765024 747432 765024 +PA36329 6889 HGNC:11560 transaldolase 1 pseudogene 1 TALDO1P1 TAL-H Yes No GenAtlas:TALDOP1, GeneCard:TALDO1P1, HGNC:HGNC:11560, NCBI Gene:6889, RefSeq DNA:NG_009424, RefSeq DNA:NT_032977 No chr1 54990059 54990887 54524824 54525097 +PA166352217 160622 HGNC:18707 trafficking regulator and scaffold protein tamalin TAMALIN GRASP Yes No HGNC:HGNC:18707, NCBI Gene:160622 No 0 0 0 0 +PA142672392 132001 HGNC:25187 ENSG00000144559 TAM41 mitochondrial translocator assembly and maintenance homolog TAMM41 """TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)"", ""phosphatidate cytidylyltransferase, mitochondrial""" C3orf31, DKFZp434E0519, MGC16471 Yes No Comparative Toxicogenomics Database:132001, Ensembl:ENSG00000144559, GeneCard:C3orf31, HGNC:HGNC:25187, HumanCyc Gene:HS14034, ModBase:Q96BW9, NCBI Gene:132001, RefSeq DNA:NT_022517, RefSeq Protein:NP_620162, RefSeq RNA:NM_138807, UniProtKB:Q96BW9 No chr3 11831916 11888393 11721896 11846919 +PA142670838 85461 HGNC:29364 ENSG00000115183 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 TANC1 rolling pebbles homolog B (Drosophila) KIAA1728, ROLSB Yes Yes Comparative Toxicogenomics Database:85461, Ensembl:ENSG00000115183, GeneCard:TANC1, HGNC:HGNC:29364, ModBase:Q9C0D5, NCBI Gene:85461, OMIM:611397, RefSeq DNA:NT_005403, RefSeq Protein:NP_001139381, RefSeq Protein:NP_203752, RefSeq RNA:NM_001145909, RefSeq RNA:NM_033394, UniProtKB:B9EK39, UniProtKB:Q9C0D5 No chr2 159825146 160089170 158968600 159232659 +PA142670837 26115 HGNC:30212 ENSG00000170921 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 TANC2 rolling pebbles homolog B (Drosophila) DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, ROLSA, rols Yes Yes Ensembl:ENSG00000170921, GeneCard:TANC2, HGNC:HGNC:30212, HumanCyc Gene:HS15933, ModBase:Q9HCD6, NCBI Gene:26115, RefSeq DNA:NT_010783, RefSeq Protein:NP_079461, RefSeq RNA:NM_025185, UniProtKB:Q9HCD6 No chr17 61043913 61505067 62966523 63427706 +PA143485406 128989 HGNC:25439 ENSG00000183597 transport and golgi organization 2 homolog TANGO2 transport and golgi organization 2 homolog (Drosophila) C22orf25, DKFZp761P1121 Yes No Ensembl:ENSG00000183597, GeneCard:C22orf25, HGNC:HGNC:25439, NCBI Gene:128989, RefSeq DNA:NT_011519, RefSeq Protein:NP_690870, RefSeq RNA:NM_152906, UniProtKB:Q6ICL3 No chr22 20004554 20053449 20017000 20067164 +PA162405811 79613 HGNC:25749 ENSG00000103047 transport and golgi organization 6 homolog TANGO6 transport and golgi organization 6 homolog (Drosophila) FLJ12688, KIAA1746, TMCO7 Yes No Ensembl:ENSG00000103047, GeneCard:TMCO7, HGNC:HGNC:25749, ModBase:Q9C0B7, NCBI Gene:79613, RefSeq DNA:NT_010498, RefSeq Protein:NP_078838, RefSeq RNA:NM_024562, UniProtKB:B3KTB6, UniProtKB:Q9C0B7 No chr16 68877456 69119085 68843547 69085182 +PA36330 10010 HGNC:11562 ENSG00000136560 TRAF family member associated NFKB activator TANK TRAF family member-associated NFKB activator I-TRAF, TRAF2 Yes Yes Comparative Toxicogenomics Database:10010, Ensembl:ENSG00000136560, GenAtlas:TANK, GeneCard:TANK, HGNC:HGNC:11562, HumanCyc Gene:HS06183, ModBase:Q92844, NCBI Gene:10010, OMIM:603893, RefSeq DNA:NT_005403, RefSeq Protein:NP_001186064, RefSeq Protein:NP_004171, RefSeq Protein:NP_597841, RefSeq RNA:NM_001199135, RefSeq RNA:NM_004180, RefSeq RNA:NM_133484, UCSC Genome Browser:NM_004180, UniProtKB:Q7Z4J6, UniProtKB:Q92844 No chr2 161993438 162092687 161136955 161236176 +PA134872946 57551 HGNC:29259 ENSG00000160551 TAO kinase 1 TAOK1 MARK kinase, prostate-derived sterile 20-like kinase 2, thousand and one amino acid protein kinase 1 FLJ14314, KIAA1361, MAP3K16, MARKK, PSK2, TAO1, hKFC-B, hTAOK1 Yes No Comparative Toxicogenomics Database:57551, Ensembl:ENSG00000160551, GeneCard:TAOK1, HGNC:HGNC:29259, ModBase:Q7L7X3, NCBI Gene:57551, OMIM:610266, RefSeq DNA:NT_010799, RefSeq Protein:NP_065842, RefSeq Protein:NP_079418, RefSeq RNA:NM_020791, RefSeq RNA:NM_025142, UniProtKB:Q7L7X3 No chr17 27717943 27878921 29390925 29551904 +PA134907964 9344 HGNC:16835 ENSG00000149930 TAO kinase 2 TAOK2 Kinase from chicken homolog C, Prostate-derived sterile 20-like kinase 1, Serine/threonine-protein kinase TAO2, Thousand and one amino acid protein kinase 2 KIAA0881, MAP3K17, PSK, PSK-1, PSK1, PSK1-BETA, TAO1, TAO2, Tao2beta, hKFC-C Yes No Comparative Toxicogenomics Database:9344, Ensembl:ENSG00000149930, GeneCard:TAOK2, HGNC:HGNC:16835, ModBase:Q9UL54, NCBI Gene:9344, OMIM:613199, RefSeq DNA:NT_010393, RefSeq Protein:NP_004774, RefSeq Protein:NP_057235, RefSeq RNA:NM_004783, RefSeq RNA:NM_016151, UniProtKB:A0PJ48, UniProtKB:Q86V37, UniProtKB:Q9UL54 No chr16 29985188 30003583 29973641 29992261 +PA134975064 51347 HGNC:18133 ENSG00000135090 TAO kinase 3 TAOK3 DPK, JIK, MAP3K18 Yes Yes Comparative Toxicogenomics Database:51347, Ensembl:ENSG00000135090, GeneCard:TAOK3, HGNC:HGNC:18133, HumanCyc Gene:HS05950, ModBase:Q9H2K8, NCBI Gene:51347, RefSeq DNA:NT_009775, RefSeq Protein:NP_057365, RefSeq RNA:NM_016281, UniProtKB:Q9H2K8 No chr12 118587606 118810750 118149801 118372950 +PA35021 6890 HGNC:43 ENSG00000168394, ENSG00000206297, ENSG00000224212, ENSG00000226173, ENSG00000227816, ENSG00000230705, ENSG00000232367 transporter 1, ATP binding cassette subfamily B member TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ABCB2, D6S114E, PSF1, RING4 Yes Yes Comparative Toxicogenomics Database:6890, Ensembl:ENSG00000168394, Ensembl:ENSG00000206297, Ensembl:ENSG00000224212, Ensembl:ENSG00000226173, Ensembl:ENSG00000227816, Ensembl:ENSG00000230705, Ensembl:ENSG00000232367, GenAtlas:TAP1, GeneCard:TAP1, HGNC:HGNC:43, HumanCyc Gene:HS09746, ModBase:Q03518, NCBI Gene:6890, OMIM:170260, OMIM:604571, RefSeq DNA:NG_011759, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_000584, RefSeq RNA:NM_000593, UCSC Genome Browser:NM_000593, UniProtKB:Q03518 No chr6 32812986 32821748 32845209 32853971 +PA35022 6891 HGNC:44 ENSG00000204267, ENSG00000206235, ENSG00000206299, ENSG00000223481, ENSG00000225967, ENSG00000228582, ENSG00000232326, ENSG00000250264 transporter 2, ATP binding cassette subfamily B member TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ABCB3, D6S217E, PSF2, RING11 Yes Yes Comparative Toxicogenomics Database:6891, Ensembl:ENSG00000204267, Ensembl:ENSG00000206235, Ensembl:ENSG00000206299, Ensembl:ENSG00000223481, Ensembl:ENSG00000225967, Ensembl:ENSG00000228582, Ensembl:ENSG00000232326, Ensembl:ENSG00000250264, GenAtlas:TAP2, GeneCard:TAP2, HGNC:HGNC:44, HumanCyc Gene:HS01355, ModBase:Q03519, NCBI Gene:6891, OMIM:170261, OMIM:604571, RefSeq DNA:NG_009793, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_000535, RefSeq Protein:NP_061313, RefSeq RNA:NM_000544, RefSeq RNA:NM_018833, UCSC Genome Browser:NM_000544, UniProtKB:Q03519, UniProtKB:Q5HY71, UniProtKB:Q9UP03 No chr6 32789610 32806547 32821833 32838823 +PA36331 6892 HGNC:11566 ENSG00000206208, ENSG00000231925 TAP binding protein TAPBP TAP binding protein (tapasin), tapasin NGS17, TAPA, TPN, TPSN Yes Yes Comparative Toxicogenomics Database:6892, Ensembl:ENSG00000206208, Ensembl:ENSG00000231925, GenAtlas:TAPBP, GeneCard:TAPBP, HGNC:HGNC:11566, HumanCyc Gene:HS03580, ModBase:Q9Y6K2, NCBI Gene:6892, OMIM:601962, OMIM:604571, RefSeq DNA:NG_009876, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_003181, RefSeq Protein:NP_757345, RefSeq Protein:NP_757346, RefSeq RNA:NM_003190, RefSeq RNA:NM_172208, RefSeq RNA:NM_172209, UCSC Genome Browser:NM_003190, UniProtKB:B2ZUA4, UniProtKB:O15533 No chr6 33267471 33282164 33299694 33314387 +PA134955671 55080 HGNC:30683 ENSG00000139192 TAP binding protein like TAPBPL TAP binding protein-like FLJ10143, TAPBP-R, TAPBPR Yes No Comparative Toxicogenomics Database:55080, Ensembl:ENSG00000139192, GeneCard:TAPBPL, HGNC:HGNC:30683, HumanCyc Gene:HS13764, ModBase:Q9BX59, NCBI Gene:55080, OMIM:607081, RefSeq DNA:NT_009759, RefSeq Protein:NP_060479, RefSeq RNA:NM_018009, UniProtKB:Q9BX59 No chr12 6561177 6571488 6451655 6472006 +PA162405167 202018 HGNC:26887 ENSG00000169762 transmembrane anterior posterior transformation 1 TAPT1 FLJ90013 Yes No Ensembl:ENSG00000169762, GeneCard:TAPT1, HGNC:HGNC:26887, HumanCyc Gene:HS10005, ModBase:Q6NXT6, NCBI Gene:202018, OMIM:612758, RefSeq DNA:NT_006316, RefSeq Protein:NP_699196, RefSeq RNA:NM_153365, UniProtKB:Q6NXT6 No chr4 16162128 16228161 16160505 16226538 +PA36333 6894 HGNC:11568 ENSG00000059588 TAR (HIV-1) RNA binding protein 1 TARBP1 tRNA methyltransferase 3 homolog (S. cerevisiae) TRM3, TRMT3, TRP-185 Yes No Ensembl:ENSG00000059588, GenAtlas:TARBP1, GeneCard:TARBP1, HGNC:HGNC:11568, HumanCyc Gene:HS00731, ModBase:Q13395, NCBI Gene:6894, OMIM:605052, RefSeq DNA:NT_167186, RefSeq Protein:NP_005637, RefSeq RNA:NM_005646, UCSC Genome Browser:NM_005646, UniProtKB:Q13395 No chr1 234527059 234614863 234391313 234479174 +PA36334 6895 HGNC:11569 ENSG00000139546 TARBP2 subunit of RISC loading complex TARBP2 """TAR (HIV) RNA-binding protein 2"", ""TAR (HIV-1) RNA binding protein 2"", ""TAR RNA binding protein 2"", ""TARBP2, RISC loading complex RNA binding subunit"", ""trans-activation responsive RNA-binding protein""" Trbp Yes No Comparative Toxicogenomics Database:6895, Ensembl:ENSG00000139546, GenAtlas:TARBP2, GeneCard:TARBP2, HGNC:HGNC:11569, HumanCyc Gene:HS06628, ModBase:Q15633, NCBI Gene:6895, OMIM:605053, RefSeq DNA:NT_029419, RefSeq Protein:NP_004169, RefSeq Protein:NP_599150, RefSeq Protein:NP_599151, RefSeq RNA:NM_004178, RefSeq RNA:NM_134323, RefSeq RNA:NM_134324, UCSC Genome Browser:NM_004178, UniProtKB:Q15633 No chr12 53893557 53900215 53500921 53506431 +PA36336 23435 HGNC:11571 ENSG00000120948 TAR DNA binding protein TARDBP ALS10, TDP-43 Yes No Comparative Toxicogenomics Database:23435, Ensembl:ENSG00000120948, GenAtlas:TARDBP, GeneCard:TARDBP, HGNC:HGNC:11571, HumanCyc Gene:HS04455, ModBase:Q13148, NCBI Gene:23435, OMIM:605078, OMIM:612069, RefSeq DNA:NG_008734, RefSeq DNA:NT_021937, RefSeq Protein:NP_031401, RefSeq RNA:NM_007375, UCSC Genome Browser:NM_007375, UniProtKB:A4GUK5, UniProtKB:Q13148 No chr1 11072462 11085549 11012622 11030528 +PA38159 643503 HGNC:16536 ENSG00000233402 TAR DNA binding protein pseudogene 1 TARDBPP1 bA318P23.1 Yes No Ensembl:ENSG00000233402, GenAtlas:TARDBPL, GeneCard:TARDBPP1, HGNC:HGNC:16536, NCBI Gene:643503, RefSeq DNA:NG_009903, RefSeq DNA:NT_011387 No chr20 6180245 6182913 6199598 6202266 +PA165394443 441864 HGNC:37250 ENSG00000248385 T cell-interacting, activating receptor on myeloid cells 1 TARM1 Yes No Ensembl:ENSG00000248385, GeneCard:TARM1, HGNC:HGNC:37250, NCBI Gene:441864, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129158, RefSeq RNA:NM_001135686, UniProtKB:B6A8C7 No chr19 54573149 54584634 54069342 54081365 +PA36337 6897 HGNC:11572 threonyl-tRNA synthetase 1 TARS1 """threonine tRNA ligase 1, cytoplasmic"", ""threonyl-tRNA synthetase""" TARS Yes No Comparative Toxicogenomics Database:6897, GenAtlas:TARS, GeneCard:TARS, HGNC:HGNC:11572, HumanCyc Gene:HS03680, ModBase:P26639, NCBI Gene:6897, OMIM:187790, RefSeq DNA:NT_006576, RefSeq Protein:NP_689508, RefSeq RNA:NM_152295, UCSC Genome Browser:NM_003191, UniProtKB:B3KTN2, UniProtKB:P26639 No chr5 33440802 33468196 33440696 33468091 +PA162405200 80222 HGNC:30740 ENSG00000143374 threonyl-tRNA synthetase 2, mitochondrial TARS2 """threonine tRNA ligase 2, mitochondrial"", ""threonyl-tRNA synthetase 2, mitochondrial (putative)""" FLJ12528, TARSL1 Yes No Ensembl:ENSG00000143374, GeneCard:TARS2, HGNC:HGNC:30740, HumanCyc Gene:HS07040, ModBase:Q9BW92, NCBI Gene:80222, OMIM:612805, RefSeq DNA:NT_004487, RefSeq Protein:NP_079426, RefSeq RNA:NM_025150, UniProtKB:Q9BW92 No chr1 150459840 150480085 150487364 150507609 +PA128394753 123283 HGNC:24728 threonyl-tRNA synthetase 3 TARS3 threonyl-tRNA synthetase like 2, threonyl-tRNA synthetase-like 2 FLJ25005, TARSL2, ThrRS-L Yes No Comparative Toxicogenomics Database:123283, GeneCard:TARSL2, HGNC:HGNC:24728, HumanCyc Gene:HS11920, ModBase:A2RTX5, NCBI Gene:123283, RefSeq DNA:NT_010274, RefSeq Protein:NP_689547, RefSeq RNA:NM_152334, UCSC Genome Browser:NM_152334, UniProtKB:A2RTX5 No chr15 102193955 102264807 101653752 101724604 +PA37882 80835 HGNC:14448 ENSG00000173662 taste 1 receptor member 1 TAS1R1 taste receptor, type 1, member 1 GPR70, T1R1, TR1 Yes No Ensembl:ENSG00000173662, GenAtlas:TAS1R1, GeneCard:TAS1R1, HGNC:HGNC:14448, HumanCyc Gene:HS10709, ModBase:Q8TDK0, NCBI Gene:80835, OMIM:606225, RefSeq DNA:NT_021937, RefSeq Protein:NP_619642, RefSeq Protein:NP_803883, RefSeq Protein:NP_803884, RefSeq Protein:NP_803885, RefSeq RNA:NM_138697, RefSeq RNA:NM_177539, RefSeq RNA:NM_177540, RefSeq RNA:NM_177541, UCSC Genome Browser:NM_138697, UniProtKB:Q7RTX1 No chr1 6614987 6639817 6555278 6579757 +PA37919 80834 HGNC:14905 ENSG00000179002 taste 1 receptor member 2 TAS1R2 taste receptor, type 1, member 2 GPR71, T1R2, TR2 Yes No Comparative Toxicogenomics Database:80834, Ensembl:ENSG00000179002, GenAtlas:TAS1R2, GeneCard:TAS1R2, HGNC:HGNC:14905, HumanCyc Gene:HS11341, ModBase:Q8TE23, NCBI Gene:80834, OMIM:606226, RefSeq DNA:NT_004610, RefSeq Protein:NP_689418, RefSeq RNA:NM_152232, UCSC Genome Browser:NM_152232, UniProtKB:Q8TE23 No chr1 19166093 19186155 18839599 18859661 +PA38012 83756 HGNC:15661 ENSG00000169962 taste 1 receptor member 3 TAS1R3 taste receptor, type 1, member 3 T1R3 Yes No Ensembl:ENSG00000169962, GenAtlas:TAS1R3, GeneCard:TAS1R3, HGNC:HGNC:15661, HumanCyc Gene:HS10045, ModBase:Q7RTX0, NCBI Gene:83756, OMIM:605865, RefSeq DNA:NT_004350, RefSeq Protein:NP_689414, RefSeq RNA:NM_152228, UniProtKB:Q7RTX0 No chr1 1266726 1269844 1331324 1335320 +PA37921 50834 HGNC:14909 ENSG00000169777 taste 2 receptor member 1 TAS2R1 taste receptor, type 2, member 1 T2R1, TRB7 Yes No Ensembl:ENSG00000169777, GenAtlas:TAS2R1, GeneCard:TAS2R1, HGNC:HGNC:14909, HumanCyc Gene:HS10009, ModBase:Q9NYW7, NCBI Gene:50834, OMIM:604796, RefSeq DNA:NT_006576, RefSeq Protein:NP_062545, RefSeq RNA:NM_019599, UCSC Genome Browser:NM_019599, UniProtKB:Q502V6, UniProtKB:Q9NYW7 No chr5 9629109 9630463 9628997 9630351 +PA37928 50839 HGNC:14918 ENSG00000121318 taste 2 receptor member 10 TAS2R10 taste receptor, type 2, member 10 T2R10, TRB2 Yes No Ensembl:ENSG00000121318, GenAtlas:TAS2R10, GeneCard:TAS2R10, HGNC:HGNC:14918, HumanCyc Gene:HS04483, ModBase:Q9NYW0, NCBI Gene:50839, OMIM:604791, RefSeq DNA:NT_009714, RefSeq Protein:NP_076410, RefSeq RNA:NM_023921, UCSC Genome Browser:NM_023921, UniProtKB:Q9NYW0 No chr12 10977945 10978868 10825346 10826269 +PA134974072 266656 HGNC:19103 taste receptor, type 2, member 12 pseudogene TAS2R12P T2R12 Yes No GeneCard:TAS2R12P, HGNC:HGNC:19103, NCBI Gene:266656, RefSeq DNA:NG_004703, RefSeq DNA:NG_005300, RefSeq DNA:NT_009714 No chr12 11047533 11048480 10894934 10895881 +PA37929 50838 HGNC:14919 ENSG00000212128 taste 2 receptor member 13 TAS2R13 taste receptor, type 2, member 13 T2R13, TRB3 Yes No Ensembl:ENSG00000212128, GenAtlas:TAS2R13, GeneCard:TAS2R13, HGNC:HGNC:14919, ModBase:Q9NYV9, NCBI Gene:50838, OMIM:604792, RefSeq DNA:NT_009714, RefSeq Protein:NP_076409, RefSeq RNA:NM_023920, UCSC Genome Browser:NM_023920, UniProtKB:Q9NYV9 No chr12 11060525 11062161 10907926 10909562 +PA37930 50840 HGNC:14920 ENSG00000212127 taste 2 receptor member 14 TAS2R14 taste receptor, type 2, member 14 T2R14, TRB1 Yes No Ensembl:ENSG00000212127, GenAtlas:TAS2R14, GeneCard:TAS2R14, HGNC:HGNC:14920, ModBase:Q9NYV8, NCBI Gene:50840, OMIM:604790, RefSeq DNA:NT_009714, RefSeq Protein:NP_076411, RefSeq RNA:NM_023922, UCSC Genome Browser:NM_023922, UniProtKB:Q9NYV8 No chr12 11090853 11091806 10938254 10939207 +PA37931 50833 HGNC:14921 ENSG00000128519 taste 2 receptor member 16 TAS2R16 taste receptor, type 2, member 16 T2R16 Yes Yes Ensembl:ENSG00000128519, GenAtlas:TAS2R16, GeneCard:TAS2R16, HGNC:HGNC:14921, HumanCyc Gene:HS05191, ModBase:Q9NYV7, NCBI Gene:50833, OMIM:103780, OMIM:604867, RefSeq DNA:NG_011980, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_058641, RefSeq RNA:NM_016945, UCSC Genome Browser:NM_016945, UniProtKB:Q9NYV7 No chr7 122634759 122635754 122994705 122995700 +PA134932609 259294 HGNC:19108 ENSG00000212124 taste 2 receptor member 19 TAS2R19 taste receptor, type 2, member 19 T2R19, T2R23, TAS2R23, TAS2R48 Yes No Ensembl:ENSG00000212124, HGNC:HGNC:19108, NCBI Gene:259294, RefSeq DNA:NT_009714, RefSeq Protein:NP_795369, RefSeq RNA:NM_176888 No chr12 11174271 11175170 11021619 11022620 +PA134962875 338396 HGNC:20615 ENSG00000203523 taste 2 receptor member 2 (gene/pseudogene) TAS2R2 taste receptor, type 2, member 2 pseudogene T2R02, T2R2, TAS2R2P Yes No Ensembl:ENSG00000203523, GeneCard:TAS2R2P, HGNC:HGNC:20615, NCBI Gene:338396, RefSeq DNA:NG_004702, RefSeq DNA:NG_005302, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 12530721 12531630 12491095 12492004 +PA134870599 259295 HGNC:19109 ENSG00000255837 taste 2 receptor member 20 TAS2R20 taste receptor, type 2, member 20 T2R20, T2R56, TAS2R49 Yes No Ensembl:ENSG00000255837, HGNC:HGNC:19109, NCBI Gene:259295, RefSeq DNA:NT_009714, RefSeq Protein:NP_795370, RefSeq RNA:NM_176889 No chr12 11148561 11150474 10995962 10997875 +PA37922 50831 HGNC:14910 ENSG00000127362 taste 2 receptor member 3 TAS2R3 taste receptor, type 2, member 3 T2R3 Yes No Ensembl:ENSG00000127362, GenAtlas:TAS2R3, GeneCard:TAS2R3, HGNC:HGNC:14910, HumanCyc Gene:HS05090, ModBase:Q9NYW6, NCBI Gene:50831, OMIM:604868, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_058639, RefSeq RNA:NM_016943, UCSC Genome Browser:NM_016943, UniProtKB:Q9NYW6 No chr7 141463897 141464997 141764097 141765197 +PA134917827 259293 HGNC:19112 ENSG00000256188 taste 2 receptor member 30 TAS2R30 taste receptor, type 2, member 30 T2R30, TAS2R47 Yes No Ensembl:ENSG00000256188, HGNC:HGNC:19112, NCBI Gene:259293, RefSeq DNA:NT_009714, RefSeq Protein:NP_001091112, RefSeq RNA:NM_001097643 No chr12 11285884 11286843 11133285 11134244 +PA134893789 259290 HGNC:19113 ENSG00000256436 taste 2 receptor member 31 TAS2R31 taste receptor, type 2, member 31 T2R31, T2R53, TAS2R44 Yes No Ensembl:ENSG00000256436, HGNC:HGNC:19113, NCBI Gene:259290, OMIM:612669, RefSeq DNA:NT_009714, RefSeq Protein:NP_795366, RefSeq RNA:NM_176885 No chr12 11182986 11184006 11030387 11031407 +PA134883725 266665 HGNC:19114 taste 2 receptor member 33 TAS2R33 taste receptor, type 2, member 33 T2R33 Yes No HGNC:HGNC:19114, NCBI Gene:266665 No chr12 +PA134979121 266666 HGNC:19115 taste 2 receptor member 36 TAS2R36 taste receptor, type 2, member 36 T2R36 Yes No HGNC:HGNC:19115, NCBI Gene:266666 No chr12 +PA134864532 266667 HGNC:19116 taste receptor, type 2, member 37 TAS2R37 T2R37 Yes No HGNC:HGNC:19116, NCBI Gene:266667 No chr12 +PA33936 5726 HGNC:9584 ENSG00000257138 taste 2 receptor member 38 TAS2R38 taste receptor, type 2, member 38 PTC, T2R61 Yes No Comparative Toxicogenomics Database:5726, Ensembl:ENSG00000257138, GenAtlas:TAS2R38, GeneCard:TAS2R38, HGNC:HGNC:9584, ModBase:P59533, NCBI Gene:5726, OMIM:171200, OMIM:607751, RefSeq DNA:NG_016141, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_789787, RefSeq RNA:NM_176817, UCSC Genome Browser:NM_176817, UniProtKB:A4D1U6, UniProtKB:P59533 No chr7 141672431 141673573 141972631 141973773 +PA38739 259285 HGNC:18886 ENSG00000236398 taste 2 receptor member 39 TAS2R39 taste receptor, type 2, member 39 Yes No Ensembl:ENSG00000236398, GenAtlas:TAS2R39, GeneCard:TAS2R39, HGNC:HGNC:18886, ModBase:P59534, NCBI Gene:259285, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_795362, RefSeq RNA:NM_176881, UCSC Genome Browser:NM_176881, UniProtKB:P59534 No chr7 142880512 142881528 143183419 143184435 +PA37923 50832 HGNC:14911 ENSG00000127364 taste 2 receptor member 4 TAS2R4 taste receptor, type 2, member 4 T2R4 Yes No Ensembl:ENSG00000127364, GenAtlas:TAS2R4, GeneCard:TAS2R4, HGNC:HGNC:14911, HumanCyc Gene:HS05091, ModBase:Q9NYW5, NCBI Gene:50832, OMIM:604869, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_058640, RefSeq RNA:NM_016944, UCSC Genome Browser:NM_016944, UniProtKB:Q9NYW5 No chr7 141478289 141479188 141778489 141779388 +PA38738 259286 HGNC:18885 ENSG00000221937 taste 2 receptor member 40 TAS2R40 taste receptor, type 2, member 40 GPR60 Yes No Ensembl:ENSG00000221937, GenAtlas:TAS2R40, GeneCard:TAS2R40, HGNC:HGNC:18885, ModBase:P59535, NCBI Gene:259286, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_795363, RefSeq RNA:NM_176882, UCSC Genome Browser:NM_176882, UniProtKB:P59535 No chr7 142919172 142920143 143222079 143223050 +PA38737 259287 HGNC:18883 ENSG00000221855 taste 2 receptor member 41 TAS2R41 taste receptor, type 2, member 41 T2R59 Yes No Ensembl:ENSG00000221855, GenAtlas:TAS2R41, GeneCard:TAS2R41, HGNC:HGNC:18883, ModBase:P59536, NCBI Gene:259287, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_795364, RefSeq RNA:NM_176883, UCSC Genome Browser:NM_176883, UniProtKB:P59536 No chr7 143174966 143175889 143477873 143478796 +PA38741 353164 HGNC:18888 ENSG00000186136 taste 2 receptor member 42 TAS2R42 taste receptor, type 2, member 42 T2R24, T2R55, TAS2R55, hT2R55 Yes No Ensembl:ENSG00000186136, GenAtlas:TAS2R42, GeneCard:TAS2R42, HGNC:HGNC:18888, ModBase:Q7RTR8, NCBI Gene:353164, RefSeq DNA:NT_009714, RefSeq Protein:NP_852094, RefSeq RNA:NM_181429, UniProtKB:Q7RTR8 No chr12 11338599 11339543 11185993 11186937 +PA38729 259289 HGNC:18875 ENSG00000226761, ENSG00000255374 taste 2 receptor member 43 TAS2R43 taste receptor, type 2, member 43 T2R52 Yes No Ensembl:ENSG00000226761, Ensembl:ENSG00000255374, GenAtlas:TAS2R43, GeneCard:TAS2R43, HGNC:HGNC:18875, ModBase:P59537, NCBI Gene:259289, OMIM:612668, RefSeq DNA:NT_009714, RefSeq Protein:NP_795365, RefSeq RNA:NM_176884, UCSC Genome Browser:NM_176884, UniProtKB:P59537 No chr12 11243886 11244912 11091287 11092313 +PA38730 259291 HGNC:18876 ENSG00000261936 taste 2 receptor member 45 TAS2R45 taste receptor, type 2, member 45 GPR59, ZG24P Yes No Ensembl:ENSG00000261936, GenAtlas:TAS2R45, GeneCard:TAS2R45, HGNC:HGNC:18876, ModBase:P59539, NCBI Gene:259291, RefSeq Protein:NP_795367, RefSeq RNA:NM_176886, UCSC Genome Browser:NM_176886, UniProtKB:P59539 No chr12 327525 328424 327525 328424 +PA38731 259292 HGNC:18877 ENSG00000226761 taste 2 receptor member 46 TAS2R46 taste receptor, type 2, member 46 T2R54 Yes No Ensembl:ENSG00000226761, GenAtlas:TAS2R46, GeneCard:TAS2R46, HGNC:HGNC:18877, ModBase:P59540, NCBI Gene:259292, OMIM:612774, RefSeq DNA:NT_009714, RefSeq Protein:NP_795368, RefSeq RNA:NM_176887, UCSC Genome Browser:NM_176887, UniProtKB:P59540 No chr12 11213964 11214893 11061365 11062294 +PA37924 54429 HGNC:14912 ENSG00000127366 taste 2 receptor member 5 TAS2R5 taste receptor, type 2, member 5 T2R5 Yes No Ensembl:ENSG00000127366, GenAtlas:TAS2R5, GeneCard:TAS2R5, HGNC:HGNC:14912, HumanCyc Gene:HS05092, ModBase:Q9NYW4, NCBI Gene:54429, OMIM:605062, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_061853, RefSeq RNA:NM_018980, UCSC Genome Browser:NM_018980, UniProtKB:A4D1U0, UniProtKB:Q502V5, UniProtKB:Q9NYW4 No chr7 141487129 141491338 141790217 141791366 +PA38736 259296 HGNC:18882 ENSG00000212126 taste 2 receptor member 50 TAS2R50 taste receptor, type 2, member 50 T2R51 Yes No Ensembl:ENSG00000212126, GenAtlas:TAS2R50, GeneCard:TAS2R50, HGNC:HGNC:18882, ModBase:P59544, NCBI Gene:259296, OMIM:609627, RefSeq DNA:NT_009714, RefSeq Protein:NP_795371, RefSeq RNA:NM_176890, UCSC Genome Browser:NM_176890, UniProtKB:P59544 No chr12 11138512 11139511 10985913 10986912 +PA134879120 338398 HGNC:20639 ENSG00000185899 taste 2 receptor member 60 TAS2R60 taste receptor, type 2, member 60 T2R60 Yes No Ensembl:ENSG00000185899, GeneCard:TAS2R60, HGNC:HGNC:20639, ModBase:P59551, NCBI Gene:338398, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_803186, RefSeq RNA:NM_177437, UniProtKB:P59551 No chr7 143140546 143141502 143443453 143444409 +PA134978715 338399 HGNC:20640 ENSG00000234066 taste receptor, type 2, member 62, pseudogene TAS2R62P T2R62, TAS2R62 Yes No Ensembl:ENSG00000234066, GeneCard:TAS2R62P, HGNC:HGNC:20640, NCBI Gene:338399, RefSeq DNA:NG_002653, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 143134128 143135066 143437035 143437973 +PA134870962 338413 HGNC:20641 ENSG00000256019 taste receptor, type 2, member 63 pseudogene TAS2R63P Yes No Ensembl:ENSG00000256019, GeneCard:TAS2R63P, HGNC:HGNC:20641, NCBI Gene:338413, RefSeq DNA:NG_002675, RefSeq DNA:NT_009714 No chr12 11200956 11201855 11048306 11049314 +PA134970125 338412 HGNC:20642 ENSG00000256274 taste receptor, type 2, member 64 pseudogene TAS2R64P T2R64, T2R64P Yes No Ensembl:ENSG00000256274, GeneCard:TAS2R64P, HGNC:HGNC:20642, NCBI Gene:338412, RefSeq DNA:NG_002674, RefSeq DNA:NT_009714 No chr12 11229944 11230841 11077292 11078294 +PA37925 50837 HGNC:14913 ENSG00000121377 taste 2 receptor member 7 TAS2R7 taste receptor, type 2, member 7 T2R7, TRB4 Yes No Ensembl:ENSG00000121377, GenAtlas:TAS2R7, GeneCard:TAS2R7, HGNC:HGNC:14913, HumanCyc Gene:HS04490, ModBase:Q9NYW3, NCBI Gene:50837, OMIM:604793, RefSeq DNA:NT_009714, RefSeq Protein:NP_076408, RefSeq RNA:NM_023919, UCSC Genome Browser:NM_023919, UniProtKB:Q9NYW3 No chr12 10954131 10955226 10801532 10802627 +PA37926 50836 HGNC:14915 ENSG00000121314 taste 2 receptor member 8 TAS2R8 taste receptor, type 2, member 8 T2R8, TRB5 Yes No Ensembl:ENSG00000121314, GenAtlas:TAS2R8, GeneCard:TAS2R8, HGNC:HGNC:14915, HumanCyc Gene:HS04482, ModBase:Q9NYW2, NCBI Gene:50836, OMIM:604794, RefSeq DNA:NT_009714, RefSeq Protein:NP_076407, RefSeq RNA:NM_023918, UCSC Genome Browser:NM_023918, UniProtKB:Q9NYW2 No chr12 10958650 10959579 10806051 10806980 +PA37927 50835 HGNC:14917 ENSG00000121381 taste 2 receptor member 9 TAS2R9 taste receptor, type 2, member 9 T2R9, TRB6 Yes No Ensembl:ENSG00000121381, GenAtlas:TAS2R9, GeneCard:TAS2R9, HGNC:HGNC:14917, HumanCyc Gene:HS04492, ModBase:Q9NYW1, NCBI Gene:50835, OMIM:604795, RefSeq DNA:NT_009714, RefSeq Protein:NP_076406, RefSeq RNA:NM_023917, UCSC Genome Browser:NM_023917, UniProtKB:Q9NYW1 No chr12 10961693 10962767 10809094 10810168 +PA166352218 80231 HGNC:25667 TLR adaptor interacting with endolysosomal SLC15A4 TASL CXorf21, TLR adaptor interacting with SLC15A4 on the lysosome FLJ11577 Yes No HGNC:HGNC:25667, NCBI Gene:80231 No 0 0 0 0 +PA128395774 23272 HGNC:30314 ENSG00000163946 transcription activation suppressor TASOR """family with sequence similarity 208 member A"", ""family with sequence similarity 208, member A"", ""transgene activation suppressor""" C3orf63, FAM208A, KIAA1105, RAP140, TASOR, TASOR1, se89-1 Yes No Ensembl:ENSG00000163946, GeneCard:C3orf63, HGNC:HGNC:30314, HumanCyc Gene:HS15129, NCBI Gene:23272, RefSeq DNA:NT_022517, RefSeq Protein:NP_001106207, RefSeq Protein:NP_056039, RefSeq RNA:NM_001112736, RefSeq RNA:NM_015224, UCSC Genome Browser:NM_015224, UniProtKB:Q9UK61 No chr3 56654160 56717270 56620132 56683242 +PA134957890 54906 HGNC:23484 ENSG00000108021 transcription activation suppressor family member 2 TASOR2 """family with sequence similarity 208 member B"", ""family with sequence similarity 208, member B""" C10orf18, FAM208B, FLJ20360, KIAA2006, bA318E3.2 Yes No Ensembl:ENSG00000108021, GeneCard:C10orf18, HGNC:HGNC:23484, HumanCyc Gene:HS12667, ModBase:Q9H996, NCBI Gene:54906, RefSeq DNA:NG_021250, RefSeq DNA:NT_008705, RefSeq Protein:NP_060252, RefSeq RNA:NM_017782 No chr10 5726801 5807742 5684759 5763740 +PA25671 55617 HGNC:15859 ENSG00000089123 taspase 1 TASP1 """taspase, threonine aspartase, 1"", ""threonine aspartase""" C20orf13, FLJ20212, dJ585I14.2 Yes No Ensembl:ENSG00000089123, GenAtlas:TASP1, GeneCard:TASP1, HGNC:HGNC:15859, HumanCyc Gene:HS01634, ModBase:Q9H6P5, NCBI Gene:55617, OMIM:608270, RefSeq DNA:NT_011387, RefSeq Protein:NP_060184, RefSeq RNA:NM_017714, UCSC Genome Browser:NM_017714, UniProtKB:Q9H6P5 No chr20 13370036 13619583 13104760 13638936 +PA36338 6898 HGNC:11573 ENSG00000198650 tyrosine aminotransferase TAT Yes No Comparative Toxicogenomics Database:6898, Ensembl:ENSG00000198650, GenAtlas:TAT, GeneCard:TAT, HGNC:HGNC:11573, HumanCyc Gene:HS06761, ModBase:P17735, NCBI Gene:6898, OMIM:276600, OMIM:277660, OMIM:613018, RefSeq DNA:NG_008235, RefSeq DNA:NT_010498, RefSeq Protein:NP_000344, RefSeq RNA:NM_000353, UCSC Genome Browser:NM_000353, UniProtKB:P17735 No chr16 71600754 71610998 71566851 71577095 +PA134971804 83940 HGNC:24220 ENSG00000147687 TatD DNase domain containing 1 TATDN1 CDA11 Yes No Ensembl:ENSG00000147687, GeneCard:TATDN1, HGNC:HGNC:24220, HumanCyc Gene:HS14215, ModBase:Q6P1N9, NCBI Gene:83940, RefSeq DNA:NT_008046, RefSeq Protein:NP_001139632, RefSeq Protein:NP_114415, RefSeq RNA:NM_001146160, RefSeq RNA:NM_032026, RefSeq RNA:NR_027427, UniProtKB:Q6P1N9 No chr8 125500735 125551329 124488494 124539088 +PA134959721 9797 HGNC:28988 ENSG00000157014 TatD DNase domain containing 2 TATDN2 KIAA0218 Yes No Ensembl:ENSG00000157014, GeneCard:TATDN2, HGNC:HGNC:28988, HumanCyc Gene:HS08168, ModBase:Q93075, NCBI Gene:9797, RefSeq DNA:NT_022517, RefSeq Protein:NP_055575, RefSeq RNA:NM_014760, UniProtKB:Q93075 No chr3 10290177 10322906 10248493 10281222 +PA142670831 128387 HGNC:27010 ENSG00000203705 TatD DNase domain containing 3 TATDN3 Yes No Comparative Toxicogenomics Database:128387, Ensembl:ENSG00000203705, GeneCard:TATDN3, HGNC:HGNC:27010, ModBase:Q17R31, NCBI Gene:128387, RefSeq DNA:NT_167186, RefSeq Protein:NP_001036017, RefSeq Protein:NP_001036018, RefSeq Protein:NP_001139641, RefSeq Protein:NP_001139642, RefSeq Protein:NP_001139643, RefSeq RNA:NM_001042552, RefSeq RNA:NM_001042553, RefSeq RNA:NM_001146169, RefSeq RNA:NM_001146170, RefSeq RNA:NM_001146171, UniProtKB:B7Z1C1, UniProtKB:B7Z978, UniProtKB:Q17R31 No chr1 212965170 212990167 212791828 212816825 +PA36339 8887 HGNC:11575 ENSG00000106052 Tax1 binding protein 1 TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1 CALCOCO3, TXBP151 Yes No Comparative Toxicogenomics Database:8887, Ensembl:ENSG00000106052, GenAtlas:TAX1BP1, GeneCard:TAX1BP1, HGNC:HGNC:11575, HumanCyc Gene:HS02855, ModBase:Q86VP1, NCBI Gene:8887, OMIM:605326, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001073333, RefSeq Protein:NP_001193830, RefSeq Protein:NP_001193831, RefSeq Protein:NP_006015, RefSeq RNA:NM_001079864, RefSeq RNA:NM_001206901, RefSeq RNA:NM_001206902, RefSeq RNA:NM_006024, UCSC Genome Browser:NM_006024, UniProtKB:A4D196, UniProtKB:Q86VP1 No chr7 27778992 27869386 27739373 27829767 +PA134950693 30851 HGNC:30684 ENSG00000213977 Tax1 binding protein 3 TAX1BP3 Tax interaction protein 1, Tax1 (human T-cell leukemia virus type I) binding protein 3 TIP-1 Yes No Comparative Toxicogenomics Database:30851, Ensembl:ENSG00000213977, GeneCard:TAX1BP3, HGNC:HGNC:30684, ModBase:O14907, NCBI Gene:30851, RefSeq DNA:NT_010718, RefSeq Protein:NP_001191627, RefSeq Protein:NP_055419, RefSeq RNA:NM_001204698, RefSeq RNA:NM_014604, UniProtKB:O14907 No chr17 3566187 3571973 3662893 3668679 +PA134924486 219793 HGNC:23511 ENSG00000166220 thymus, brain and testes associated TBATA C10orf27, FLJ32820, spatial Yes No Ensembl:ENSG00000166220, GeneCard:C10orf27, HGNC:HGNC:23511, HumanCyc Gene:HS15416, ModBase:Q96M53, NCBI Gene:219793, OMIM:612640, RefSeq DNA:NT_030059, RefSeq Protein:NP_689923, RefSeq RNA:NM_152710, UniProtKB:Q96M53 No chr10 72530995 72545157 70771237 70785419 +PA36342 23216 HGNC:11578 ENSG00000065882 TBC1 domain family member 1 TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 KIAA1108, TBC, TBC1 Yes Yes Comparative Toxicogenomics Database:23216, Ensembl:ENSG00000065882, GenAtlas:TBC1D1, GeneCard:TBC1D1, HGNC:HGNC:11578, HumanCyc Gene:HS12177, ModBase:Q86TI0, NCBI Gene:23216, OMIM:609850, RefSeq DNA:NT_016297, RefSeq Protein:NP_055988, RefSeq RNA:NM_015173, UCSC Genome Browser:NM_015173, UniProtKB:B9A6J6, UniProtKB:Q7Z6H2, UniProtKB:Q86TI0, UniProtKB:Q8NC59 No chr4 37889606 38140796 37891084 38139175 +PA134888210 83874 HGNC:23609 ENSG00000099992 TBC1 domain family member 10A TBC1D10A """EBP50-PDZ interactor of 64 kD"", ""TBC1 domain family, member 10A""" AC004997.C22.2, EPI64, TBC1D10 Yes No Comparative Toxicogenomics Database:83874, Ensembl:ENSG00000099992, GeneCard:TBC1D10A, HGNC:HGNC:23609, HumanCyc Gene:HS01946, ModBase:Q9BXI6, NCBI Gene:83874, OMIM:610020, RefSeq DNA:NT_011520, RefSeq Protein:NP_001191169, RefSeq Protein:NP_114143, RefSeq RNA:NM_001204240, RefSeq RNA:NM_031937, UniProtKB:Q20WK7, UniProtKB:Q9BXI6 No chr22 30687979 30722955 30291990 30326966 +PA142670835 26000 HGNC:24510 ENSG00000169221 TBC1 domain family member 10B TBC1D10B TBC1 domain family, member 10B DKFZP434P1750, EPI64B, FLJ13130, Rab27A-GAPbeta Yes No Comparative Toxicogenomics Database:26000, Ensembl:ENSG00000169221, GeneCard:TBC1D10B, HGNC:HGNC:24510, HumanCyc Gene:HS09906, ModBase:Q4KMP7, NCBI Gene:26000, RefSeq DNA:NT_010393, RefSeq Protein:NP_056342, RefSeq RNA:NM_015527, UniProtKB:Q4KMP7 No chr16 30368422 30381522 30357101 30370258 +PA142670836 374403 HGNC:24702 ENSG00000175463 TBC1 domain family member 10C TBC1D10C TBC1 domain family, member 10C Carabin, EPI64C, FLJ00332 Yes No Ensembl:ENSG00000175463, GeneCard:TBC1D10C, HGNC:HGNC:24702, ModBase:Q8IV04, NCBI Gene:374403, OMIM:610831, RefSeq DNA:NT_167190, RefSeq Protein:NP_940919, RefSeq RNA:NM_198517, UniProtKB:Q8IV04 No chr11 67171384 67177561 67403718 67410090 +PA134891743 23232 HGNC:29082 ENSG00000108239 TBC1 domain family member 12 TBC1D12 TBC1 domain family, member 12 KIAA0608 Yes No Ensembl:ENSG00000108239, GeneCard:TBC1D12, HGNC:HGNC:29082, ModBase:O60347, NCBI Gene:23232, RefSeq DNA:NT_030059, RefSeq Protein:NP_056003, RefSeq RNA:NM_015188, UniProtKB:O60347 No chr10 96161956 96296089 94402429 94536332 +PA134898118 54662 HGNC:25571 ENSG00000107021 TBC1 domain family member 13 TBC1D13 TBC1 domain family, member 13 FLJ10743 Yes No Comparative Toxicogenomics Database:54662, Ensembl:ENSG00000107021, GeneCard:TBC1D13, HGNC:HGNC:25571, HumanCyc Gene:HS12648, ModBase:Q9NVG8, NCBI Gene:54662, RefSeq DNA:NT_008470, RefSeq Protein:NP_060671, RefSeq RNA:NM_018201, UniProtKB:Q5T270 No chr9 131549510 131572711 128787207 128810432 +PA128394697 57533 HGNC:29246 ENSG00000132405 TBC1 domain family member 14 TBC1D14 TBC1 domain family, member 14 KIAA1322 Yes No Comparative Toxicogenomics Database:57533, Ensembl:ENSG00000132405, GeneCard:TBC1D14, HGNC:HGNC:29246, NCBI Gene:57533, RefSeq DNA:NT_006051, RefSeq Protein:NP_001106832, RefSeq Protein:NP_001106834, RefSeq Protein:NP_065824, RefSeq RNA:NM_001113361, RefSeq RNA:NM_001113363, RefSeq RNA:NM_020773, UCSC Genome Browser:NM_020773, UniProtKB:Q9P2M4 No chr4 6911171 7034845 6909444 7033118 +PA134946839 64786 HGNC:25694 ENSG00000121749 TBC1 domain family member 15 TBC1D15 TBC1 domain family, member 15 DKFZp761D0223, FLJ12085 Yes No Comparative Toxicogenomics Database:64786, Ensembl:ENSG00000121749, GeneCard:TBC1D15, HGNC:HGNC:25694, HumanCyc Gene:HS13025, ModBase:Q8TC07, NCBI Gene:64786, OMIM:612662, RefSeq DNA:NT_029419, RefSeq Protein:NP_001139685, RefSeq Protein:NP_001139686, RefSeq Protein:NP_073608, RefSeq RNA:NM_001146213, RefSeq RNA:NM_001146214, RefSeq RNA:NM_022771, RefSeq RNA:NR_027449, UniProtKB:B4DMT9, UniProtKB:Q8TC07 No chr12 72233487 72320629 71839707 71926849 +PA134881634 125058 HGNC:28356 ENSG00000167291 TBC1 domain family member 16 TBC1D16 TBC1 domain family, member 16 FLJ20748, MGC25062 Yes No Comparative Toxicogenomics Database:125058, Ensembl:ENSG00000167291, GeneCard:TBC1D16, HGNC:HGNC:28356, ModBase:Q8TBP0, NCBI Gene:125058, RefSeq DNA:NT_010783, RefSeq Protein:NP_061893, RefSeq RNA:NM_019020, UniProtKB:B9A6L7, UniProtKB:Q8TBP0 No chr17 77906142 78009657 79932343 80035875 +PA134922509 79735 HGNC:25699 ENSG00000104946 TBC1 domain family member 17 TBC1D17 TBC1 domain family, member 17 FLJ12168 Yes No Comparative Toxicogenomics Database:79735, Ensembl:ENSG00000104946, GeneCard:TBC1D17, HGNC:HGNC:25699, HumanCyc Gene:HS12564, ModBase:Q9HA65, NCBI Gene:79735, RefSeq DNA:NT_011109, RefSeq Protein:NP_001161694, RefSeq Protein:NP_078958, RefSeq RNA:NM_001168222, RefSeq RNA:NM_024682, UniProtKB:B4DT12, UniProtKB:Q9HA65 No chr19 50380682 50392007 49877425 49888750 +PA134980991 55296 HGNC:25624 ENSG00000109680 TBC1 domain family member 19 TBC1D19 TBC1 domain family, member 19 FLJ11082 Yes No Comparative Toxicogenomics Database:55296, Ensembl:ENSG00000109680, GeneCard:TBC1D19, HGNC:HGNC:25624, HumanCyc Gene:HS12695, ModBase:Q8N5T2, NCBI Gene:55296, RefSeq DNA:NT_006316, RefSeq Protein:NP_060787, RefSeq RNA:NM_018317, UniProtKB:Q8N5T2 No chr4 26585546 26758232 26583924 26858919 +PA38280 55357 HGNC:18026 ENSG00000095383 TBC1 domain family member 2 TBC1D2 """TBC1 domain family, member 2"", ""prostate antigen recognized and identified by SEREX""" Armus, PARIS1, TBC1D2A Yes No Comparative Toxicogenomics Database:55357, Ensembl:ENSG00000095383, GenAtlas:TBC1D2, GeneCard:TBC1D2, HGNC:HGNC:18026, HumanCyc Gene:HS01819, ModBase:Q9BYX2, NCBI Gene:55357, OMIM:609871, RefSeq DNA:NT_008470, RefSeq Protein:NP_060891, RefSeq RNA:NM_018421, UCSC Genome Browser:NM_018421, UniProtKB:Q9BYX2 No chr9 100961280 101018003 98198998 98255721 +PA25683 128637 HGNC:16133 ENSG00000125875 TBC1 domain family member 20 TBC1D20 TBC1 domain family, member 20 C20orf140, dJ852M4.2 Yes No Ensembl:ENSG00000125875, GenAtlas:TBC1D20, GeneCard:TBC1D20, HGNC:HGNC:16133, HumanCyc Gene:HS13183, ModBase:Q96BZ9, NCBI Gene:128637, OMIM:611663, RefSeq DNA:NT_011387, RefSeq Protein:NP_653229, RefSeq RNA:NM_144628, UCSC Genome Browser:NM_144628, UniProtKB:B9A6M1, UniProtKB:Q96BZ9 No chr20 416124 443187 435477 462553 +PA134890585 161514 HGNC:28536 ENSG00000167139 TBC1 domain family member 21 TBC1D21 """TBC1 domain family, member 21"", ""male germ cell-specific expressed, containing a RabGAP domain""" MGC34741, MgcRabGAP Yes No Ensembl:ENSG00000167139, GeneCard:TBC1D21, HGNC:HGNC:28536, HumanCyc Gene:HS15527, ModBase:Q8IYX1, NCBI Gene:161514, RefSeq DNA:NT_010194, RefSeq Protein:NP_699187, RefSeq RNA:NM_153356, UniProtKB:Q8IYX1 No chr15 74165922 74181555 73873556 73909783 +PA25888 25771 HGNC:1309 ENSG00000054611 TBC1 domain family member 22A TBC1D22A TBC1 domain family, member 22A C22orf4 Yes No Comparative Toxicogenomics Database:25771, Ensembl:ENSG00000054611, GenAtlas:TBC1D22A, GeneCard:TBC1D22A, HGNC:HGNC:1309, HumanCyc Gene:HS12136, ModBase:Q9UH25, NCBI Gene:25771, RefSeq DNA:NT_011520, RefSeq Protein:NP_055161, RefSeq RNA:NM_014346, UCSC Genome Browser:NM_014346, UniProtKB:B9A6M3, UniProtKB:Q8WUA7 No chr22 47158514 47571342 46762617 47224975 +PA134867087 55633 HGNC:21602 ENSG00000065491 TBC1 domain family member 22B TBC1D22B TBC1 domain family, member 22B C6orf197, FLJ20337, dJ744I24.2 Yes No Ensembl:ENSG00000065491, GeneCard:TBC1D22B, HGNC:HGNC:21602, HumanCyc Gene:HS12173, ModBase:Q9NU19, NCBI Gene:55633, RefSeq DNA:NT_007592, RefSeq Protein:NP_060242, RefSeq RNA:NM_017772, UniProtKB:A8KA28, UniProtKB:Q9NU19 No chr6 37225528 37300746 37257704 37332970 +PA142670829 55773 HGNC:25622 ENSG00000036054 TBC1 domain family member 23 TBC1D23 TBC1 domain family, member 23 FLJ11046 Yes No Comparative Toxicogenomics Database:55773, Ensembl:ENSG00000036054, GeneCard:TBC1D23, HGNC:HGNC:25622, HumanCyc Gene:HS12085, NCBI Gene:55773, RefSeq DNA:NT_005612, RefSeq Protein:NP_001186127, RefSeq Protein:NP_060779, RefSeq RNA:NM_001199198, RefSeq RNA:NM_018309, UniProtKB:Q9NUY8 No chr3 99979661 100044096 100260817 100325252 +PA144596267 57465 HGNC:29203 ENSG00000162065 TBC1 domain family member 24 TBC1D24 """TBC/LysM-associated domain containing 6"", ""TBC1 domain family, member 24"", ""deafness, autosomal dominant 65"", ""skywalker homolog (Drosophila)""" DFNA65, DFNB86, KIAA1171, TLDC6 Yes No Ensembl:ENSG00000162065, GeneCard:TBC1D24, HGNC:HGNC:29203, NCBI Gene:57465, RefSeq DNA:NT_010393, RefSeq Protein:NP_001186036, RefSeq Protein:NP_065756, RefSeq RNA:NM_001199107, RefSeq RNA:NM_020705, UniProtKB:Q9ULP9 No chr16 2525146 2555734 2475104 2509669 +PA162405201 4943 HGNC:8092 ENSG00000068354 TBC1 domain family member 25 TBC1D25 TBC1 domain family, member 25 OATL1 Yes No Ensembl:ENSG00000068354, GeneCard:TBC1D25, HGNC:HGNC:8092, HumanCyc Gene:HS12192, ModBase:Q3MII6, NCBI Gene:4943, OMIM:311240, RefSeq DNA:NT_079573, RefSeq Protein:NP_002527, RefSeq RNA:NM_002536, UniProtKB:Q3MII6 No chrX 48398075 48420997 48539687 48562609 +PA162405218 353149 HGNC:28745 ENSG00000214946, ENSG00000251684 TBC1 domain family member 26 TBC1D26 TBC1 domain family, member 26 MGC51025 Yes No Ensembl:ENSG00000214946, Ensembl:ENSG00000251684, GeneCard:TBC1D26, HGNC:HGNC:28745, NCBI Gene:353149, RefSeq DNA:NT_010718, RefSeq Protein:NP_848666, RefSeq RNA:NM_178571, UniProtKB:Q86UD7 No chr17 15635591 15648098 15732277 15744784 +PA162405287 254272 HGNC:26858 ENSG00000189375 TBC1 domain family member 28 TBC1D28 TBC1 domain family, member 28 FLJ40244 Yes No Ensembl:ENSG00000189375, GeneCard:TBC1D28, HGNC:HGNC:26858, ModBase:Q2M2D7, NCBI Gene:254272, RefSeq DNA:NT_010718, RefSeq Protein:NP_001034486, RefSeq RNA:NM_001039397, UniProtKB:Q2M2D7 No chr17 18538738 18547740 18634434 18644431 +PA142670832 23102 HGNC:29183 ENSG00000167202 TBC1 domain family member 2B TBC1D2B TBC1 domain family, member 2B KIAA1055 Yes No Comparative Toxicogenomics Database:23102, Ensembl:ENSG00000167202, GeneCard:TBC1D2B, HGNC:HGNC:29183, HumanCyc Gene:HS09525, NCBI Gene:23102, RefSeq DNA:NT_010194, RefSeq Protein:NP_055894, RefSeq Protein:NP_653173, RefSeq RNA:NM_015079, RefSeq RNA:NM_144572, UniProtKB:B2RTQ2, UniProtKB:Q9UPU7 No chr15 78287327 78369994 77994985 78077708 +PA134941179 729873 HGNC:19031 ENSG00000274611 TBC1 domain family member 3 TBC1D3 """TBC1 domain family, member 3"", ""prostate cancer gene 17""" DKFZp434P2235, PRC17, TBC1D3A Yes No Ensembl:ENSG00000274611, GeneCard:TBC1D3, HGNC:HGNC:19031, ModBase:Q8IZP1, NCBI Gene:729873, OMIM:607741, RefSeq DNA:NT_010783, RefSeq Protein:NP_001116863, RefSeq RNA:NM_001123391, UniProtKB:Q8IZP1 No chr17 +PA162405327 23329 HGNC:29164 ENSG00000111490 TBC1 domain family member 30 TBC1D30 TBC1 domain family, member 30 KIAA0984 Yes No Ensembl:ENSG00000111490, GeneCard:TBC1D30, HGNC:HGNC:29164, ModBase:Q9Y2I9, NCBI Gene:23329, RefSeq DNA:NT_029419, RefSeq Protein:NP_056094, RefSeq Protein:XP_001716885, RefSeq Protein:XP_002343220, RefSeq Protein:XP_002344717, RefSeq Protein:XP_002347382, RefSeq Protein:XP_037557, RefSeq Protein:XP_944569, RefSeq RNA:NM_015279, RefSeq RNA:XM_001716833, RefSeq RNA:XM_002343179, RefSeq RNA:XM_002344676, RefSeq RNA:XM_002347341, RefSeq RNA:XM_037557, RefSeq RNA:XM_939476, UniProtKB:B9A6M9 No chr12 65218352 65274802 64759489 64881022 +PA142670600 93594 HGNC:30888 ENSG00000156787 TBC1 domain family member 31 TBC1D31 """TBC1 domain family, member 31"", ""WD repeat domain 67""" Gm85, MGC21654, WDR67 Yes No Ensembl:ENSG00000156787, GeneCard:WDR67, HGNC:HGNC:30888, HumanCyc Gene:HS08152, ModBase:Q96DN5, NCBI Gene:93594, RefSeq DNA:NT_008046, RefSeq Protein:NP_001138560, RefSeq Protein:NP_663622, RefSeq RNA:NM_001145088, RefSeq RNA:NM_145647, UniProtKB:B7ZL19, UniProtKB:Q96DN5 No chr8 124084920 124164393 123041961 123165169 +PA134871908 221322 HGNC:21485 ENSG00000146350 TBC1 domain family member 32 TBC1D32 """TBC1 domain family, member 32"", ""broad-minded homolog"", ""chromosome 6 open reading frame 170""" BROMI, C6orf170, C6orf171, FLJ30899, FLJ34235, bA57L9.1, dJ310J6.1 Yes Yes Ensembl:ENSG00000146350, GeneCard:C6orf170, HGNC:HGNC:21485, HumanCyc Gene:HS14145, NCBI Gene:221322, RefSeq DNA:NT_025741, RefSeq Protein:NP_689943, RefSeq RNA:NM_152730, UniProtKB:Q96NH3 No chr6 121400627 121655646 121079494 121335382 +PA142670833 414059 HGNC:27011 ENSG00000274808 TBC1 domain family member 3B TBC1D3B TBC1 domain family, member 3B PRC17, TBC1D3I Yes No Ensembl:ENSG00000274808, GeneCard:TBC1D3B, HGNC:HGNC:27011, ModBase:A6NDS4, NCBI Gene:414059, OMIM:610144, RefSeq DNA:NG_004113, RefSeq DNA:NT_010799, RefSeq Protein:NP_001001417, RefSeq RNA:NM_001001417, UniProtKB:A6NDS4 No chr17 34493061 34504035 36165681 36176624 +PA142670834 414060 HGNC:24889 ENSG00000161583, ENSG00000234972 TBC1 domain family member 3C TBC1D3C TBC1 domain family, member 3C MGC44903 Yes No Ensembl:ENSG00000161583, Ensembl:ENSG00000234972, GeneCard:TBC1D3C, HGNC:HGNC:24889, NCBI Gene:414060, OMIM:610806, RefSeq DNA:NG_004113, RefSeq DNA:NT_010799, RefSeq Protein:NP_001001418, RefSeq RNA:NM_001001418 No chr17 34581085 34592039 38057693 38068634 +PA166123741 101060389 HGNC:28944 ENSG00000274419 TBC1 domain family member 3D TBC1D3D TBC1 domain family, member 3D Yes No Ensembl:ENSG00000274419, HGNC:HGNC:28944, NCBI Gene:101060389 No +PA166123742 102723859 HGNC:27071 ENSG00000278599 TBC1 domain family member 3E TBC1D3E TBC1 domain family, member 3E Yes No Ensembl:ENSG00000278599, HGNC:HGNC:27071, NCBI Gene:102723859 No +PA145007592 84218 HGNC:18257 ENSG00000275954 TBC1 domain family member 3F TBC1D3F TBC1 domain family, member 3F Yes No Ensembl:ENSG00000275954, GeneCard:TBC1D3F, HGNC:HGNC:18257, HumanCyc Gene:HS13296, HumanCyc Gene:HS16298, ModBase:A6NER0, NCBI Gene:84218, OMIM:610809, RefSeq DNA:NT_010783, RefSeq Protein:NP_115634, RefSeq RNA:NM_032258 No chr17 36283868 36294915 36428612 36439523 +PA145007622 101060321 HGNC:29860 ENSG00000260287 TBC1 domain family member 3G TBC1D3G TBC1 domain family, member 3G Yes No Ensembl:ENSG00000260287, GeneCard:TBC1D3G, HGNC:HGNC:29860, ModBase:Q6DHY5, NCBI Gene:101060321, OMIM:610810, RefSeq DNA:NT_010783, RefSeq Protein:NP_001035372, RefSeq RNA:NM_001040282, UniProtKB:Q6DHY5, UniProtKB:Q6IPX1 No chr17 199951 219515 36322242 36334759 +PA145007654 729877 HGNC:30708 ENSG00000174115, ENSG00000185128, ENSG00000197681, ENSG00000242384 TBC1 domain family member 3H TBC1D3H TBC1 domain family, member 3H Yes No Ensembl:ENSG00000174115, Ensembl:ENSG00000185128, Ensembl:ENSG00000197681, Ensembl:ENSG00000242384, GeneCard:TBC1D3H, HGNC:HGNC:30708, ModBase:P0C7X1, NCBI Gene:729877, OMIM:610808, OMIM:610811, RefSeq DNA:NT_010783, RefSeq DNA:NT_078100, RefSeq Protein:NP_001116864, RefSeq Protein:XP_001134201, RefSeq Protein:XP_001134202, RefSeq RNA:NM_001123392, RefSeq RNA:XM_001134201, RefSeq RNA:XM_001134202, RefSeq RNA:XM_930537, RefSeq RNA:XM_935324, RefSeq RNA:XM_935326, RefSeq RNA:XM_935328, RefSeq RNA:XM_935331, RefSeq RNA:XM_935332, RefSeq RNA:XM_935333, RefSeq RNA:XM_935334, RefSeq RNA:XM_935335, RefSeq RNA:XM_935336, RefSeq RNA:XM_935337, RefSeq RNA:XM_935339, RefSeq RNA:XM_935341, RefSeq RNA:XM_935343, UniProtKB:A6NH17 No chr17 34745936 34757050 36377475 36388448 +PA166181661 102724862 HGNC:32709 ENSG00000274933 TBC1 domain family member 3I TBC1D3I Yes No Ensembl:ENSG00000274933, HGNC:HGNC:32709, NCBI Gene:102724862 No 0 0 0 0 +PA166123744 101060351 HGNC:51245 ENSG00000273513 TBC1 domain family member 3K TBC1D3K TBC1 domain family, member 3K Yes No Ensembl:ENSG00000273513, HGNC:HGNC:51245, NCBI Gene:101060351 No +PA166123745 101060376 HGNC:51246 ENSG00000274512 TBC1 domain family member 3L TBC1D3L TBC1 domain family, member 3L Yes No Ensembl:ENSG00000274512, HGNC:HGNC:51246, NCBI Gene:101060376 No +PA145007724 400609 HGNC:27445 ENSG00000238283 TBC1 domain family, member 3 pseudogene 1 TBC1D3P1 Yes No Ensembl:ENSG00000238283, GeneCard:TBC1D3P1, HGNC:HGNC:27445, NCBI Gene:400609, RefSeq DNA:NG_005461, RefSeq DNA:NT_010783 No chr17 +PA142671975 653645 HGNC:42362 ENSG00000267104 TBC1D3P1-DHX40P1 readthrough transcribed pseudogene TBC1D3P1-DHX40P1 Yes No Ensembl:ENSG00000267104, HGNC:HGNC:42362, NCBI Gene:653645, RefSeq DNA:NT_010783, RefSeq RNA:NR_002924, RefSeq RNA:XR_042168 No chr17 58053385 58096336 59962363 60019052 +PA145007726 440452 HGNC:27783 ENSG00000188755 TBC1 domain family, member 3 pseudogene 2 TBC1D3P2 Yes No Ensembl:ENSG00000188755, GeneCard:TBC1D3P2, HGNC:HGNC:27783, NCBI Gene:440452, RefSeq DNA:NG_005460, RefSeq DNA:NT_010783, RefSeq RNA:NR_027486 No chr17 60342066 60353016 62264705 62275655 +PA142670635 653017 HGNC:32408 ENSG00000235203 TBC1 domain family, member 3 pseudogene 3 TBC1D3P3 Yes No Ensembl:ENSG00000235203, GeneCard:TBC1D3P3, HGNC:HGNC:32408, NCBI Gene:653017 No chr17 20446793 20454277 20543481 20550729 +PA142670636 100631253 HGNC:32409 ENSG00000204471 TBC1 domain family, member 3 pseudogene 4 TBC1D3P4 Yes No Ensembl:ENSG00000204471, GeneCard:TBC1D3P4, HGNC:HGNC:32409, NCBI Gene:100631253 No chr17 18298213 18304578 18395079 18400960 +PA38807 9882 HGNC:19165 ENSG00000136111 TBC1 domain family member 4 TBC1D4 """Akt substrate of 160 kDa"", ""TBC1 domain family, member 4""" AS160, DKFZp779C0666, KIAA0603 Yes No Ensembl:ENSG00000136111, GenAtlas:TBC1D4, GeneCard:TBC1D4, HGNC:HGNC:19165, HumanCyc Gene:HS13614, ModBase:O60343, NCBI Gene:9882, OMIM:612465, RefSeq DNA:NT_024524, RefSeq Protein:NP_055647, RefSeq RNA:NM_014832, UCSC Genome Browser:NM_014832, UniProtKB:O60343 No chr13 75858809 76056782 75284664 75482646 +PA38808 9779 HGNC:19166 ENSG00000131374 TBC1 domain family member 5 TBC1D5 TBC1 domain family, member 5 KIAA0210 Yes No Ensembl:ENSG00000131374, GenAtlas:TBC1D5, GeneCard:TBC1D5, HGNC:HGNC:19166, HumanCyc Gene:HS13379, ModBase:Q92609, NCBI Gene:9779, RefSeq DNA:NT_022517, RefSeq Protein:NP_001127852, RefSeq Protein:NP_001127853, RefSeq Protein:NP_055559, RefSeq RNA:NM_001134380, RefSeq RNA:NM_001134381, RefSeq RNA:NM_014744, UCSC Genome Browser:NM_014744, UniProtKB:B9A6K1, UniProtKB:C9JP52, UniProtKB:Q92609 No chr3 17198654 17784240 17157162 17742739 +PA134929978 51256 HGNC:21066 ENSG00000145979 TBC1 domain family member 7 TBC1D7 """TBC domain family 7"", ""TBC1 domain family, member 7"", ""TS complex subunit 3"", ""Tre2-Bub2-Cdc16 Domain Family Member 7""" FLJ32666, TBC7, dJ257A7.3 Yes No Comparative Toxicogenomics Database:51256, Ensembl:ENSG00000145979, GeneCard:TBC1D7, HGNC:HGNC:21066, HumanCyc Gene:HS14124, ModBase:Q9P0N9, NCBI Gene:51256, OMIM:612655, RefSeq DNA:NT_007592, RefSeq Protein:NP_001137436, RefSeq Protein:NP_001137437, RefSeq Protein:NP_001137438, RefSeq Protein:NP_057579, RefSeq RNA:NM_001143964, RefSeq RNA:NM_001143965, RefSeq RNA:NM_001143966, RefSeq RNA:NM_016495, UniProtKB:Q53F44, UniProtKB:Q5SZL7, UniProtKB:Q86VM8, UniProtKB:Q9P0N9 No chr6 13305183 13328787 13304951 13328583 +PA134885935 11138 HGNC:17791 ENSG00000204634 TBC1 domain family member 8 TBC1D8 """BUB2-like protein 1"", ""TBC1 domain family, member 8 (with GRAM domain)"", ""vascular Rab-GAP/TBC-containing protein""" AD3, GRAMD8, HBLP1, VRP Yes No Ensembl:ENSG00000204634, GeneCard:TBC1D8, HGNC:HGNC:17791, NCBI Gene:11138, RefSeq DNA:NT_022171, RefSeq Protein:NP_001095896, RefSeq RNA:NM_001102426, UniProtKB:O95759 No chr2 101623690 101767858 101006435 101195326 +PA145148061 54885 HGNC:24715 ENSG00000133138 TBC1 domain family member 8B TBC1D8B TBC1 domain family, member 8B (with GRAM domain) FLJ20298, GRAMD8B, RP11-321G1.1 Yes No Ensembl:ENSG00000133138, GeneCard:TBC1D8B, HGNC:HGNC:24715, HumanCyc Gene:HS05746, ModBase:Q0IIM8, NCBI Gene:54885, RefSeq DNA:NG_021284, RefSeq DNA:NT_011651, RefSeq Protein:NP_060222, RefSeq Protein:NP_942582, RefSeq RNA:NM_017752, RefSeq RNA:NM_198881, UniProtKB:B9A6K5, UniProtKB:B9A6K6, UniProtKB:Q0IIM8, UniProtKB:Q8N250 No chrX 106045919 106119380 106802689 106876150 +PA128394607 23158 HGNC:21710 ENSG00000109436 TBC1 domain family member 9 TBC1D9 TBC1 domain family, member 9 (with GRAM domain) GRAMD9, KIAA0882 Yes No Ensembl:ENSG00000109436, GeneCard:TBC1D9, HGNC:HGNC:21710, ModBase:Q6ZT07, NCBI Gene:23158, RefSeq DNA:NT_016354, RefSeq Protein:NP_055945, RefSeq RNA:NM_015130, UniProtKB:Q6ZT07 No chr4 141541936 141677471 140620782 140756317 +PA145148062 23061 HGNC:29097 ENSG00000197226 TBC1 domain family member 9B TBC1D9B TBC1 domain family, member 9B (with GRAM domain) GRAMD9B, KIAA0676 Yes No Ensembl:ENSG00000197226, GeneCard:TBC1D9B, HGNC:HGNC:29097, NCBI Gene:23061, RefSeq DNA:NT_023133, RefSeq Protein:NP_055858, RefSeq Protein:NP_942568, RefSeq RNA:NM_015043, RefSeq RNA:NM_198868, UniProtKB:B3KM54, UniProtKB:Q66K14, UniProtKB:Q9BW24 No chr5 179289071 179334879 179862071 179907856 +PA36343 6902 HGNC:11579 ENSG00000171530 tubulin folding cofactor A TBCA Yes No Comparative Toxicogenomics Database:6902, Ensembl:ENSG00000171530, GenAtlas:TBCA, GeneCard:TBCA, HGNC:HGNC:11579, HumanCyc Gene:HS10334, ModBase:O75347, NCBI Gene:6902, OMIM:610058, RefSeq DNA:NT_006713, RefSeq Protein:NP_004598, RefSeq RNA:NM_004607, UCSC Genome Browser:NM_004607, UniProtKB:O75347, UniProtKB:Q6FGD7 No chr5 76986995 77072185 77691169 77776361 +PA162405357 1155 HGNC:1989 ENSG00000105254 tubulin folding cofactor B TBCB CG22, CKAP1, CKAPI Yes No Ensembl:ENSG00000105254, GeneCard:TBCB, HGNC:HGNC:1989, HumanCyc Gene:HS02701, ModBase:Q99426, NCBI Gene:1155, OMIM:601303, RefSeq DNA:NT_011109, RefSeq Protein:NP_001272, RefSeq RNA:NM_001281, UniProtKB:Q99426 No chr19 36605888 36616849 36114949 36125948 +PA36344 6903 HGNC:11580 ENSG00000124659 tubulin folding cofactor C TBCC CFC Yes No Comparative Toxicogenomics Database:6903, Ensembl:ENSG00000124659, GenAtlas:TBCC, GeneCard:TBCC, HGNC:HGNC:11580, HumanCyc Gene:HS04813, ModBase:Q15814, NCBI Gene:6903, OMIM:602971, RefSeq DNA:NT_007592, RefSeq Protein:NP_003183, RefSeq RNA:NM_003192, UCSC Genome Browser:NM_003192, UniProtKB:Q15814 No chr6 42712234 42713884 42744496 42746146 +PA143485628 55171 HGNC:25546 ENSG00000113838 TBCC domain containing 1 TBCCD1 FLJ10560 Yes No Comparative Toxicogenomics Database:55171, Ensembl:ENSG00000113838, GeneCard:TBCCD1, HGNC:HGNC:25546, HumanCyc Gene:HS03723, ModBase:Q9NVR7, NCBI Gene:55171, RefSeq DNA:NT_005612, RefSeq Protein:NP_001127887, RefSeq Protein:NP_060608, RefSeq RNA:NM_001134415, RefSeq RNA:NM_018138, UniProtKB:Q9NVR7 No chr3 186263856 186288332 186546067 186570543 +PA36345 6904 HGNC:11581 ENSG00000141556 tubulin folding cofactor D TBCD Yes No Ensembl:ENSG00000141556, GenAtlas:TBCD, GeneCard:TBCD, HGNC:HGNC:11581, HumanCyc Gene:HS10946, ModBase:Q9UG46, NCBI Gene:6904, OMIM:604649, RefSeq DNA:NG_011721, RefSeq DNA:NT_010663, RefSeq Protein:NP_005984, RefSeq RNA:NM_005993, UCSC Genome Browser:NM_005993, UniProtKB:Q9BTW9 No chr17 80709938 80901062 82752048 82943186 +PA36346 6905 HGNC:11582 ENSG00000285053 tubulin folding cofactor E TBCE HRD, KCS, KCS1, pac2 Yes No Comparative Toxicogenomics Database:6905, Ensembl:ENSG00000285053, GenAtlas:TBCE, GeneCard:TBCE, HGNC:HGNC:11582, HumanCyc Gene:HS04071, ModBase:Q15813, NCBI Gene:6905, OMIM:241410, OMIM:244460, OMIM:604934, RefSeq DNA:NG_009230, RefSeq DNA:NT_167186, RefSeq Protein:NP_001072983, RefSeq Protein:NP_003184, RefSeq RNA:NM_001079515, RefSeq RNA:NM_003193, UCSC Genome Browser:NM_003193, UniProtKB:Q15813 No chr1 235530728 235612280 235367360 235448968 +PA162405374 219899 HGNC:28115 ENSG00000154114 tubulin folding cofactor E like TBCEL tubulin folding cofactor E-like LRRC35, MGC10233 Yes No Ensembl:ENSG00000154114, GeneCard:TBCEL, HGNC:HGNC:28115, HumanCyc Gene:HS14505, NCBI Gene:219899, OMIM:610451, RefSeq DNA:NT_033899, RefSeq Protein:NP_001123519, RefSeq Protein:NP_689928, RefSeq RNA:NM_001130047, RefSeq RNA:NM_152715, UniProtKB:B2R8D2, UniProtKB:Q5QJ74 No chr11 120894802 120962787 121024094 121090776 +PA165664603 93627 HGNC:28261 ENSG00000145348 TBC1 domain containing kinase TBCK FERRY1, Fy-1, HSPC302, MGC16169 Yes No Ensembl:ENSG00000145348, GeneCard:TBCK, HGNC:HGNC:28261, HumanCyc Gene:HS07246, NCBI Gene:93627, RefSeq DNA:NT_016354, RefSeq Protein:NP_001156907, RefSeq Protein:NP_001156908, RefSeq Protein:NP_001156909, RefSeq Protein:NP_149106, RefSeq RNA:NM_001163435, RefSeq RNA:NM_001163436, RefSeq RNA:NM_001163437, RefSeq RNA:NM_033115, UniProtKB:Q8TEA7 No chr4 106967233 107237861 106044317 106316704 +PA36348 29110 HGNC:11584 ENSG00000183735 TANK binding kinase 1 TBK1 TANK-binding kinase 1 NAK Yes No Comparative Toxicogenomics Database:29110, Ensembl:ENSG00000183735, GenAtlas:TBK1, GeneCard:TBK1, HGNC:HGNC:11584, HumanCyc Gene:HS00020, ModBase:Q9UHD2, NCBI Gene:29110, OMIM:604834, RefSeq DNA:NT_029419, RefSeq Protein:NP_037386, RefSeq RNA:NM_013254, UCSC Genome Browser:NM_013254, UniProtKB:Q9UHD2 No chr12 64845840 64895899 64452060 64502119 +PA142670830 9755 HGNC:30140 ENSG00000198933 TBK1 binding protein 1 TBKBP1 KIAA0775, ProSAPiP2 Yes No Ensembl:ENSG00000198933, GeneCard:TBKBP1, HGNC:HGNC:30140, ModBase:A7MCY6, NCBI Gene:9755, OMIM:608476, RefSeq DNA:NT_010783, RefSeq Protein:NP_055541, RefSeq RNA:NM_014726, UniProtKB:A7MCY6 No chr17 45771441 45789429 47694065 47712063 +PA36349 6907 HGNC:11585 ENSG00000101849 transducin beta like 1 X-linked TBL1X transducin (beta)-like 1X-linked EBI, TBL1 Yes No Comparative Toxicogenomics Database:6907, Ensembl:ENSG00000101849, GenAtlas:TBL1X, GeneCard:TBL1X, HGNC:HGNC:11585, HumanCyc Gene:HS02307, ModBase:O60907, NCBI Gene:6907, OMIM:300196, RefSeq DNA:NT_167197, RefSeq Protein:NP_001132938, RefSeq Protein:NP_001132939, RefSeq Protein:NP_001132940, RefSeq Protein:NP_005638, RefSeq RNA:NM_001139466, RefSeq RNA:NM_001139467, RefSeq RNA:NM_001139468, RefSeq RNA:NM_005647, UCSC Genome Browser:NM_005647, UniProtKB:O60907 No chrX 9431335 9687780 9463295 9719740 +PA134928556 79718 HGNC:29529 ENSG00000177565 TBL1X/Y related 1 TBL1XR1 F-box-like/WD repeat-containing protein TBL1XR1, TBL1-related protein, transducin (beta)-like 1 X-linked receptor 1, transducin beta like 1 X-linked receptor 1 C21, DC42, FLJ12894, IRA1, TBLR1 Yes Yes Comparative Toxicogenomics Database:79718, Ensembl:ENSG00000177565, GeneCard:TBL1XR1, HGNC:HGNC:29529, HumanCyc Gene:HS12814, ModBase:Q9BZK7, NCBI Gene:79718, OMIM:608628, RefSeq DNA:NT_005612, RefSeq Protein:NP_078941, RefSeq RNA:NM_024665, UniProtKB:Q9BZK7 No chr3 176738542 176915048 177019355 177197357 +PA38564 90665 HGNC:18502 ENSG00000092377 transducin beta like 1 Y-linked TBL1Y transducin (beta)-like 1, Y-linked TBL1 Yes No Ensembl:ENSG00000092377, GenAtlas:TBL1Y, GeneCard:TBL1Y, HGNC:HGNC:18502, HumanCyc Gene:HS12346, ModBase:Q9BQ87, NCBI Gene:90665, OMIM:400033, RefSeq DNA:NT_011896, RefSeq Protein:NP_150600, RefSeq Protein:NP_599020, RefSeq Protein:NP_599021, RefSeq RNA:NM_033284, RefSeq RNA:NM_134258, RefSeq RNA:NM_134259, UCSC Genome Browser:NM_033284, UniProtKB:Q9BQ87 No chrY 6778727 6959977 6910686 7107154 +PA36350 26608 HGNC:11586 ENSG00000106638 transducin beta like 2 TBL2 Williams-Beuren syndrome chromosome region 13, transducin (beta)-like 2 DKFZP43N024, WBSCR13, WS-betaTRP Yes No Comparative Toxicogenomics Database:26608, Ensembl:ENSG00000106638, GenAtlas:TBL2, GeneCard:TBL2, HGNC:HGNC:11586, HumanCyc Gene:HS02938, ModBase:Q9Y4P3, NCBI Gene:26608, OMIM:605842, RefSeq DNA:NG_023281, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_036585, RefSeq RNA:NM_012453, UCSC Genome Browser:NM_012453, UniProtKB:Q9Y4P3 No chr7 72983274 72993013 73568944 73578683 +PA36351 10607 HGNC:11587 ENSG00000183751 transducin beta like 3 TBL3 transducin (beta)-like 3 SAZD, UTP13 Yes No Comparative Toxicogenomics Database:10607, Ensembl:ENSG00000183751, GenAtlas:TBL3, GeneCard:TBL3, HGNC:HGNC:11587, ModBase:Q12788, NCBI Gene:10607, OMIM:605915, RefSeq DNA:NT_010393, RefSeq Protein:NP_006444, RefSeq RNA:NM_006453, UCSC Genome Browser:NM_006453, UniProtKB:Q12788 No chr16 2022064 2028751 1972063 1978750 +PA36352 6908 HGNC:11588 ENSG00000112592 TATA-box binding protein TBP Spinocerebellar ataxia 17, TATA box binding protein GTF2D1, SCA17, TBP1, TFIID Yes No Comparative Toxicogenomics Database:6908, Ensembl:ENSG00000112592, GenAtlas:TBP, GeneCard:TBP, HGNC:HGNC:11588, HumanCyc Gene:HS03593, ModBase:P20226, NCBI Gene:6908, OMIM:168600, OMIM:600075, OMIM:607136, RefSeq DNA:NG_008165, RefSeq DNA:NT_025741, RefSeq Protein:NP_001165556, RefSeq Protein:NP_003185, RefSeq RNA:NM_001172085, RefSeq RNA:NM_003194, UCSC Genome Browser:NM_003194, UniProtKB:B4E3B3, UniProtKB:P20226, UniProtKB:Q32MN7 No chr6 170863384 170881958 170554333 170572870 +PA36353 9519 HGNC:11589 ENSG00000028839 TATA-box binding protein like 1 TBPL1 TBP-like 1, TBP-like factor STUD, TLF, TLP, TRF2 Yes No Comparative Toxicogenomics Database:9519, Ensembl:ENSG00000028839, GenAtlas:TBPL1, GeneCard:TBPL1, HGNC:HGNC:11589, HumanCyc Gene:HS00466, ModBase:P62380, NCBI Gene:9519, OMIM:605521, RefSeq DNA:NT_025741, RefSeq Protein:NP_004856, RefSeq RNA:NM_004865, UCSC Genome Browser:NM_004865, UniProtKB:A8K8F5, UniProtKB:P62380 No chr6 134273308 134308638 133952170 133987500 +PA134990291 387332 HGNC:19841 ENSG00000182521 TATA-box binding protein like 2 TBPL2 TATA box binding protein like 2 TBP2, TRF3 Yes No Ensembl:ENSG00000182521, GeneCard:TBPL2, HGNC:HGNC:19841, ModBase:Q6SJ96, NCBI Gene:387332, OMIM:608964, RefSeq DNA:NT_026437, RefSeq Protein:NP_950248, RefSeq RNA:NM_199047, UniProtKB:Q6SJ96 No chr14 55880928 55907263 55414210 55440545 +PA36354 10716 HGNC:11590 ENSG00000136535 T-box brain transcription factor 1 TBR1 """T-box, brain 1"", ""T-box, brain, 1""" Yes No Comparative Toxicogenomics Database:10716, Ensembl:ENSG00000136535, GenAtlas:TBR1, GeneCard:TBR1, HGNC:HGNC:11590, HumanCyc Gene:HS06179, ModBase:Q16650, NCBI Gene:10716, OMIM:604616, RefSeq DNA:NT_005403, RefSeq Protein:NP_006584, RefSeq RNA:NM_006593, UCSC Genome Browser:NM_006593, UniProtKB:Q16650 No chr2 162272620 162282381 161416094 161425867 +PA134926528 84897 HGNC:29551 ENSG00000154144 transforming growth factor beta regulator 1 TBRG1 nuclear interactor of ARF and MDM2 FLJ14621, NIAM, TB-5 Yes No Comparative Toxicogenomics Database:84897, Ensembl:ENSG00000154144, GeneCard:TBRG1, HGNC:HGNC:29551, HumanCyc Gene:HS07953, NCBI Gene:84897, OMIM:610614, RefSeq DNA:NT_033899, RefSeq Protein:NP_116200, RefSeq RNA:NM_032811, RefSeq RNA:NR_016021, UniProtKB:Q3YBR2 No chr11 124492742 124505822 124622599 124635926 +PA134882196 9238 HGNC:17443 ENSG00000136270 transforming growth factor beta regulator 4 TBRG4 FAST kinase domains 4, cell cycle progression 2 protein Cpr2, FASTKD4, H_TD2522F11.8, KIAA0948 Yes No Comparative Toxicogenomics Database:9238, Ensembl:ENSG00000136270, GeneCard:TBRG4, HGNC:HGNC:17443, HumanCyc Gene:HS06142, ModBase:Q969Z0, NCBI Gene:9238, OMIM:611325, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_004740, RefSeq Protein:NP_112162, RefSeq Protein:NP_954573, RefSeq RNA:NM_004749, RefSeq RNA:NM_030900, RefSeq RNA:NM_199122, UniProtKB:B3KM73, UniProtKB:Q969Z0 No chr7 45139699 45151346 45100100 45111747 +PA36355 6899 HGNC:11592 ENSG00000184058 T-box transcription factor 1 TBX1 T-box 1 CATCH22, CTHM, VCF Yes No Comparative Toxicogenomics Database:6899, Ensembl:ENSG00000184058, GenAtlas:TBX1, GeneCard:TBX1, HGNC:HGNC:11592, ModBase:O43435, NCBI Gene:6899, OMIM:188400, OMIM:192430, OMIM:217095, OMIM:602054, RefSeq DNA:NG_009229, RefSeq DNA:NT_011519, RefSeq Protein:NP_005983, RefSeq Protein:NP_542377, RefSeq Protein:NP_542378, RefSeq RNA:NM_005992, RefSeq RNA:NM_080646, RefSeq RNA:NM_080647, UCSC Genome Browser:NM_005992, UniProtKB:O43435, UniProtKB:Q152R5 No chr22 19744226 19771116 19756703 19783593 +PA36356 347853 HGNC:11593 ENSG00000167800 T-box transcription factor 10 TBX10 T-box 10 TBX13, TBX7 Yes No Ensembl:ENSG00000167800, GenAtlas:TBX10, GeneCard:TBX10, HGNC:HGNC:11593, ModBase:O75333, NCBI Gene:347853, OMIM:604648, RefSeq DNA:NT_167190, RefSeq Protein:NP_005986, RefSeq RNA:NM_005995, UCSC Genome Browser:NM_005995, UniProtKB:O75333 No chr11 67398774 67407031 67631303 67639560 +PA36357 6913 HGNC:11594 ENSG00000092607 T-box transcription factor 15 TBX15 T-box 15 TBX14 Yes No Ensembl:ENSG00000092607, GenAtlas:TBX15, GeneCard:TBX15, HGNC:HGNC:11594, HumanCyc Gene:HS01775, ModBase:Q96SF7, NCBI Gene:6913, OMIM:260660, OMIM:604127, RefSeq DNA:NG_013361, RefSeq DNA:NT_032977, RefSeq Protein:NP_689593, RefSeq RNA:NM_152380, UCSC Genome Browser:NM_152380, UniProtKB:Q5JT54, UniProtKB:Q8N8P2 No chr1 119425666 119532179 118883043 118989556 +PA36358 9096 HGNC:11595 ENSG00000112837 T-box transcription factor 18 TBX18 T-box 18 Yes No Ensembl:ENSG00000112837, GenAtlas:TBX18, GeneCard:TBX18, HGNC:HGNC:11595, HumanCyc Gene:HS03625, ModBase:O95935, NCBI Gene:9096, OMIM:604613, RefSeq DNA:NT_007299, RefSeq Protein:NP_001073977, RefSeq RNA:NM_001080508, UniProtKB:O95935 No chr6 85442214 85473954 84666834 84764236 +PA36359 9095 HGNC:11596 ENSG00000143178 T-box transcription factor 19 TBX19 T-box 19, TBS 19 TPIT, dj747L4.1 Yes No Comparative Toxicogenomics Database:9095, Ensembl:ENSG00000143178, GenAtlas:TBX19, GeneCard:TBX19, HGNC:HGNC:11596, HumanCyc Gene:HS07002, ModBase:O60806, NCBI Gene:9095, OMIM:201400, OMIM:604614, RefSeq DNA:NG_008244, RefSeq DNA:NT_004487, RefSeq Protein:NP_005140, RefSeq RNA:NM_005149, UCSC Genome Browser:NM_005149, UniProtKB:B3KRD9, UniProtKB:O60806 No chr1 168250278 168283664 168281040 168314426 +PA36360 6909 HGNC:11597 ENSG00000121068 T-box transcription factor 2 TBX2 T-box 2 Yes Yes Comparative Toxicogenomics Database:6909, Ensembl:ENSG00000121068, GenAtlas:TBX2, GeneCard:TBX2, HGNC:HGNC:11597, HumanCyc Gene:HS04469, ModBase:Q13207, NCBI Gene:6909, OMIM:600747, RefSeq DNA:NT_010783, RefSeq Protein:NP_005985, RefSeq RNA:NM_005994, UCSC Genome Browser:NM_005994, UniProtKB:Q13207 No chr17 59477257 59486827 61399896 61409466 +PA36361 57057 HGNC:11598 ENSG00000164532 T-box transcription factor 20 TBX20 T-box 20 Yes No Comparative Toxicogenomics Database:57057, Ensembl:ENSG00000164532, GenAtlas:TBX20, GeneCard:TBX20, HGNC:HGNC:11598, HumanCyc Gene:HS09092, ModBase:Q9UMR3, NCBI Gene:57057, OMIM:606061, OMIM:611363, RefSeq DNA:NG_015805, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001071121, RefSeq Protein:NP_001159692, RefSeq Protein:NP_065150, RefSeq RNA:NM_001077653, RefSeq RNA:NM_001166220, RefSeq RNA:NM_020417, UCSC Genome Browser:NM_020417, UniProtKB:Q000T4, UniProtKB:Q9UMR3 No chr7 35242042 35293711 35199936 35254100 +PA36362 30009 HGNC:11599 ENSG00000073861 T-box transcription factor 21 TBX21 T-box 21, T-box transcription factor expressed in T cells T-bet, TBLYM Yes Yes Comparative Toxicogenomics Database:30009, Ensembl:ENSG00000073861, GenAtlas:TBX21, GeneCard:TBX21, HGNC:HGNC:11599, HumanCyc Gene:HS01119, ModBase:Q9UL17, NCBI Gene:30009, OMIM:208550, OMIM:604895, RefSeq DNA:NG_012166, RefSeq DNA:NT_010783, RefSeq Protein:NP_037483, RefSeq RNA:NM_013351, UCSC Genome Browser:NM_013351, UniProtKB:Q9UL17 No chr17 45810610 45823485 47733240 47746122 +PA36363 50945 HGNC:11600 ENSG00000122145 T-box transcription factor 22 TBX22 T-box 22 CLPA, CPX Yes No Comparative Toxicogenomics Database:50945, Ensembl:ENSG00000122145, GenAtlas:TBX22, GeneCard:TBX22, HGNC:HGNC:11600, HumanCyc Gene:HS04550, ModBase:Q9Y458, NCBI Gene:50945, OMIM:300307, OMIM:303400, RefSeq DNA:NG_008998, RefSeq DNA:NT_011651, RefSeq Protein:NP_001103348, RefSeq Protein:NP_001103349, RefSeq Protein:NP_058650, RefSeq RNA:NM_001109878, RefSeq RNA:NM_001109879, RefSeq RNA:NM_016954, UCSC Genome Browser:NM_016954, UniProtKB:B3KUL8, UniProtKB:Q5JZ06, UniProtKB:Q9Y458 No chrX 79270255 79287268 80014730 80035828 +PA36364 57160 HGNC:11601 T-box 23, pseudogene TBX23P Yes No GenAtlas:TBX23P, GeneCard:TBX23P, HGNC:HGNC:11601, NCBI Gene:57160 No chr1 +PA36365 6926 HGNC:11602 ENSG00000135111 T-box transcription factor 3 TBX3 T-box 3 TBX3-ISO, UMS, XHL Yes No Comparative Toxicogenomics Database:6926, Ensembl:ENSG00000135111, GenAtlas:TBX3, GeneCard:TBX3, HGNC:HGNC:11602, HumanCyc Gene:HS05956, ModBase:O15119, NCBI Gene:6926, OMIM:181450, OMIM:601621, RefSeq DNA:NG_008315, RefSeq DNA:NT_009775, RefSeq Protein:NP_005987, RefSeq Protein:NP_057653, RefSeq RNA:NM_005996, RefSeq RNA:NM_016569, UCSC Genome Browser:NM_005996, UniProtKB:O15119 No chr12 115108059 115121969 114670254 114684164 +PA36366 9496 HGNC:11603 ENSG00000121075 T-box transcription factor 4 TBX4 T-box 4 Yes No Comparative Toxicogenomics Database:9496, Ensembl:ENSG00000121075, GenAtlas:TBX4, GeneCard:TBX4, HGNC:HGNC:11603, HumanCyc Gene:HS04471, ModBase:P57082, NCBI Gene:9496, OMIM:147891, OMIM:601719, RefSeq DNA:NG_008080, RefSeq DNA:NT_010783, RefSeq Protein:NP_060958, RefSeq RNA:NM_018488, UCSC Genome Browser:NM_018488, UniProtKB:P57082 No chr17 59529134 59562471 61452418 61485110 +PA36367 6910 HGNC:11604 ENSG00000089225 T-box transcription factor 5 TBX5 T-box 5 HOS Yes No Comparative Toxicogenomics Database:6910, Ensembl:ENSG00000089225, GenAtlas:TBX5, GeneCard:TBX5, HGNC:HGNC:11604, HumanCyc Gene:HS01645, ModBase:Q99593, NCBI Gene:6910, OMIM:142900, OMIM:601620, RefSeq DNA:NG_007373, RefSeq DNA:NT_009775, RefSeq Protein:NP_000183, RefSeq Protein:NP_542448, RefSeq Protein:NP_542449, RefSeq Protein:NP_852259, RefSeq RNA:NM_000192, RefSeq RNA:NM_080717, RefSeq RNA:NM_080718, RefSeq RNA:NM_181486, UCSC Genome Browser:NM_000192, UniProtKB:A6ND77, UniProtKB:Q96TB0, UniProtKB:Q99593 No chr12 114791735 114846247 114353911 114408708 +PA166094734 255480 HGNC:27402 ENSG00000255399 TBX5 antisense RNA 1 TBX5-AS1 Yes No Ensembl:ENSG00000255399, HGNC:HGNC:27402, NCBI Gene:255480 No chr12 114846000 114850637 114408195 114412832 +PA36368 6911 HGNC:11605 ENSG00000149922 T-box transcription factor 6 TBX6 T-box 6 Yes No Comparative Toxicogenomics Database:6911, Ensembl:ENSG00000149922, GenAtlas:TBX6, GeneCard:TBX6, HGNC:HGNC:11605, HumanCyc Gene:HS07645, ModBase:O95947, NCBI Gene:6911, OMIM:602427, OMIM:610265, RefSeq DNA:NG_023283, RefSeq DNA:NT_010393, RefSeq Protein:NP_004599, RefSeq RNA:NM_004608, UCSC Genome Browser:NM_004608, UniProtKB:O95947 No chr16 30097114 30103258 30085793 30091919 +PA347 6914 HGNC:11607 thromboxane A1 receptor TBXA1R Yes No GenAtlas:TBXA1R, GeneCard:TBXA1R, HGNC:HGNC:11607, NCBI Gene:6914 No +PA348 6915 HGNC:11608 ENSG00000006638 thromboxane A2 receptor TBXA2R Yes Yes Comparative Toxicogenomics Database:6915, Ensembl:ENSG00000006638, GenAtlas:TBXA2R, GeneCard:TBXA2R, HGNC:HGNC:11608, HumanCyc Gene:HS00188, IUPHAR Receptor:346, ModBase:P21731, NCBI Gene:6915, OMIM:188070, RefSeq DNA:NG_013363, RefSeq DNA:NT_011255, RefSeq Protein:NP_001051, RefSeq Protein:NP_963998, RefSeq RNA:NM_001060, RefSeq RNA:NM_201636, UCSC Genome Browser:NM_001060, UniProtKB:P21731, UniProtKB:Q05C92, UniProtKB:Q0VAB0 No chr19 3594504 3606831 3594506 3608749 +PA349 6916 HGNC:11609 ENSG00000059377 thromboxane A synthase 1 TBXAS1 """cytochrome P450, family 5, subfamily A, polypeptide 1"", ""thromboxane A synthase 1 (platelet)""" CYP5, CYP5A1, THAS, TS, TXAS, TXS Yes Yes Comparative Toxicogenomics Database:6916, Ensembl:ENSG00000059377, GenAtlas:TBXAS1, GeneCard:TBXAS1, HGNC:HGNC:11609, HumanCyc Gene:HS00728, ModBase:Q9HD80, NCBI Gene:6916, OMIM:231095, OMIM:274180, RefSeq DNA:NG_008422, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001052, RefSeq Protein:NP_001124438, RefSeq Protein:NP_001159725, RefSeq Protein:NP_001159726, RefSeq Protein:NP_112246, RefSeq RNA:NM_001061, RefSeq RNA:NM_001130966, RefSeq RNA:NM_001166253, RefSeq RNA:NM_001166254, RefSeq RNA:NM_030984, RefSeq RNA:NR_029394, UCSC Genome Browser:NM_001061, UniProtKB:B4DJG6, UniProtKB:P24557, UniProtKB:Q16843, UniProtKB:Q53F23, UniProtKB:Q96CN2, URL:http://www.imm.ki.se/CYPalleles/cyp5a1.htm No chr7 139478047 139720125 139778248 140020325 +PA36296 6862 HGNC:11515 ENSG00000164458 T-box transcription factor T TBXT T, brachyury homolog (mouse) T Yes Yes Comparative Toxicogenomics Database:6862, Ensembl:ENSG00000164458, GenAtlas:T, GeneCard:T, HGNC:HGNC:11515, HumanCyc Gene:HS09084, ModBase:O15178, NCBI Gene:6862, OMIM:182940, OMIM:601397, RefSeq DNA:NG_012135, RefSeq DNA:NT_025741, RefSeq Protein:NP_003172, RefSeq RNA:NM_003181, UCSC Genome Browser:NM_003181, UniProtKB:O15178 No chr6 166571144 166582157 166157644 166168669 +PA162405395 123036 HGNC:19859 ENSG00000165929 tandem C2 domains, nuclear TC2N C2 calcium-dependent domain containing 1 C14orf47, C2CD1, FLJ36557, MTAC2D1, Tac2-N Yes No Comparative Toxicogenomics Database:123036, Ensembl:ENSG00000165929, GeneCard:TC2N, HGNC:HGNC:19859, HumanCyc Gene:HS09305, NCBI Gene:123036, RefSeq DNA:NT_026437, RefSeq Protein:NP_001122067, RefSeq Protein:NP_001122068, RefSeq Protein:NP_689545, RefSeq RNA:NM_001128595, RefSeq RNA:NM_001128596, RefSeq RNA:NM_152332, UniProtKB:Q8N9U0 No chr14 92246266 92333880 91779751 91867536 +PA162385749 9747 HGNC:22201 ENSG00000198420 TRPM8 channel associated factor 1 TCAF1 family with sequence similarity 115, member A FAM115A, GATD9A, KIAA0738 Yes No Ensembl:ENSG00000198420, GeneCard:FAM115A, HGNC:HGNC:22201, NCBI Gene:9747, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001193867, RefSeq Protein:NP_001193870, RefSeq Protein:NP_055534, RefSeq RNA:NM_001206938, RefSeq RNA:NM_001206941, RefSeq RNA:NM_014719, UniProtKB:Q9Y4C2 No chr7 143548461 143599278 143851368 143902228 +PA162385772 285966 HGNC:26878 ENSG00000170379 TRPM8 channel associated factor 2 TCAF2 family with sequence similarity 115, member C FAM115C, FAM139A, FLJ40722, GATD9, GATD9B Yes No Ensembl:ENSG00000170379, GeneCard:FAM115C, HGNC:HGNC:26878, HumanCyc Gene:HS10117, NCBI Gene:285966, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001123497, RefSeq Protein:NP_001123498, RefSeq Protein:NP_775949, RefSeq RNA:NM_001130025, RefSeq RNA:NM_001130026, RefSeq RNA:NM_173678, UniProtKB:A6NFQ2, UniProtKB:B4DK02 No chr7 143318045 143427173 143620952 143732576 +PA142672384 285343 HGNC:25241 ENSG00000179152 T cell activation inhibitor, mitochondrial TCAIM tolerance associated gene-1 C3orf23, DKFZp313N0621, TOAG-1 Yes No Ensembl:ENSG00000179152, GeneCard:C3orf23, HGNC:HGNC:25241, ModBase:Q8N3R3, NCBI Gene:285343, RefSeq DNA:NT_022517, RefSeq Protein:NP_001025010, RefSeq Protein:NP_001025011, RefSeq Protein:NP_776187, RefSeq RNA:NM_001029839, RefSeq RNA:NM_001029840, RefSeq RNA:NM_173826, UniProtKB:Q8N3R3 No chr3 44379574 44450940 44338119 44409448 +PA142670827 146771 HGNC:30707 ENSG00000240280 testicular cell adhesion molecule 1, pseudogene TCAM1P Yes No Ensembl:ENSG00000240280, HGNC:HGNC:30707, NCBI Gene:146771, RefSeq DNA:NT_010783, RefSeq RNA:NR_002947 No chr17 61934376 61941739 63857016 63864379 +PA36370 8557 HGNC:11610 ENSG00000173991 titin-cap TCAP 19 kDa sarcomeric protein, teneurin C-terminal associated peptide CMD1N, LGMD2G, T-cap, TELE, telethonin Yes No Comparative Toxicogenomics Database:8557, Ensembl:ENSG00000173991, GenAtlas:TCAP, GeneCard:TCAP, HGNC:HGNC:11610, HumanCyc Gene:HS10754, ModBase:O15273, NCBI Gene:8557, OMIM:601954, OMIM:604488, OMIM:607487, RefSeq DNA:NG_008892, RefSeq DNA:NT_010783, RefSeq Protein:NP_003664, RefSeq RNA:NM_003673, UCSC Genome Browser:NM_003673, UniProtKB:A2TDC0, UniProtKB:O15273 No chr17 37821599 37822807 39665346 39666554 +PA36371 6917 HGNC:11612 ENSG00000187735 transcription elongation factor A1 TCEA1 """transcription elongation factor A (SII), 1"", ""transcription factor IIS""" GTF2S, SII, TCEA, TF2S, TFIIS Yes No Comparative Toxicogenomics Database:6917, Ensembl:ENSG00000187735, GenAtlas:TCEA1, GeneCard:TCEA1, HGNC:HGNC:11612, ModBase:P23193, NCBI Gene:6917, OMIM:601425, RefSeq DNA:NT_008183, RefSeq Protein:NP_006747, RefSeq Protein:NP_958845, RefSeq RNA:NM_006756, RefSeq RNA:NM_201437, UCSC Genome Browser:NM_006756, UniProtKB:P23193 No chr8 54879116 54935008 53966554 54022456 +PA36372 6918 HGNC:11613 ENSG00000197214 transcription elongation factor A (SII), 1 pseudogene 1 TCEA1P1 Yes No Ensembl:ENSG00000197214, GenAtlas:TCEA1P, GeneCard:TCEA1P1, HGNC:HGNC:11613, NCBI Gene:6918, RefSeq DNA:NG_001200, RefSeq DNA:NT_008470 No chr9 99829876 99833051 97067594 97070769 +PA134938239 399511 HGNC:29891 ENSG00000230409 transcription elongation factor A (SII), 1 pseudogene 2 TCEA1P2 TCEA1 Yes No Ensembl:ENSG00000230409, GeneCard:TCEA1P2, HGNC:HGNC:29891, NCBI Gene:399511, RefSeq DNA:NG_003186, RefSeq DNA:NT_022517 No chr3 37317028 37319650 37275537 37278152 +PA134933472 340501 HGNC:30569 ENSG00000215165 transcription elongation factor A (SII), 1 pseudogene 3 TCEA1P3 Yes No Ensembl:ENSG00000215165, GeneCard:TCEA1P3, HGNC:HGNC:30569, NCBI Gene:340501 No chr9 38478471 38479344 38478284 38479544 +PA134940695 100421350 HGNC:31091 ENSG00000236184 transcription elongation factor A (SII), 1 pseudogene 4 TCEA1P4 Yes No Ensembl:ENSG00000236184, GeneCard:TCEA1P4, HGNC:HGNC:31091, NCBI Gene:100421350 No chr9 32975721 32980439 32976389 32977202 +PA36373 6919 HGNC:11614 ENSG00000171703 transcription elongation factor A2 TCEA2 transcription elongation factor A (SII), 2 TFIIS Yes No Comparative Toxicogenomics Database:6919, Ensembl:ENSG00000171703, GenAtlas:TCEA2, GeneCard:TCEA2, HGNC:HGNC:11614, HumanCyc Gene:HS10367, ModBase:Q15560, NCBI Gene:6919, OMIM:604784, RefSeq DNA:NT_011333, RefSeq Protein:NP_003186, RefSeq Protein:NP_942016, RefSeq RNA:NM_003195, RefSeq RNA:NM_198723, UCSC Genome Browser:NM_003195, UniProtKB:Q15560, UniProtKB:Q6IB64 No chr20 62688439 62703700 64042350 64072347 +PA36374 6920 HGNC:11615 ENSG00000204219 transcription elongation factor A3 TCEA3 transcription elongation factor A (SII), 3 TFIIS.H Yes No Comparative Toxicogenomics Database:6920, Ensembl:ENSG00000204219, GenAtlas:TCEA3, GeneCard:TCEA3, HGNC:HGNC:11615, ModBase:O75764, NCBI Gene:6920, OMIM:604128, RefSeq DNA:NT_004610, RefSeq Protein:NP_003187, RefSeq RNA:NM_003196, UniProtKB:A8K2K7, UniProtKB:O75764 No chr1 23707555 23751269 23379953 23424779 +PA36375 9338 HGNC:11616 ENSG00000172465 transcription elongation factor A like 1 TCEAL1 transcription elongation factor A (SII)-like 1 P21, SIIR, WEX9, p21, pp21 Yes No Comparative Toxicogenomics Database:9338, Ensembl:ENSG00000172465, GenAtlas:TCEAL1, GeneCard:TCEAL1, HGNC:HGNC:11616, HumanCyc Gene:HS10522, NCBI Gene:9338, OMIM:300237, RefSeq DNA:NT_011651, RefSeq Protein:NP_001006640, RefSeq Protein:NP_001006641, RefSeq Protein:NP_004771, RefSeq RNA:NM_001006639, RefSeq RNA:NM_001006640, RefSeq RNA:NM_004780, UCSC Genome Browser:NM_004780, UniProtKB:Q15170 No chrX 102883648 102885881 103628720 103630953 +PA134922072 140597 HGNC:29818 ENSG00000184905 transcription elongation factor A like 2 TCEAL2 transcription elongation factor A (SII)-like 2 MY0876G05, WEX1, my048 Yes No Ensembl:ENSG00000184905, GeneCard:TCEAL2, HGNC:HGNC:29818, ModBase:Q9H3H9, NCBI Gene:140597, RefSeq DNA:NG_012818, RefSeq DNA:NT_011651, RefSeq Protein:NP_525129, RefSeq RNA:NM_080390, UniProtKB:Q9H3H9 No chrX 101380660 101382684 102125688 102127712 +PA128394737 85012 HGNC:28247 ENSG00000196507 transcription elongation factor A like 3 TCEAL3 transcription elongation factor A (SII)-like 3 MGC15737, WEX8 Yes No Ensembl:ENSG00000196507, GeneCard:TCEAL3, HGNC:HGNC:28247, HumanCyc Gene:HS13095, ModBase:Q969E4, NCBI Gene:85012, RefSeq DNA:NT_011651, RefSeq Protein:NP_001006934, RefSeq Protein:NP_116315, RefSeq RNA:NM_001006933, RefSeq RNA:NM_032926, UCSC Genome Browser:NM_032926, UniProtKB:Q969E4 No chrX 102862834 102864855 103607906 103609927 +PA128394724 79921 HGNC:26121 ENSG00000133142 transcription elongation factor A like 4 TCEAL4 transcription elongation factor A (SII)-like 4 FLJ21174, WEX7 Yes No Ensembl:ENSG00000133142, GeneCard:TCEAL4, HGNC:HGNC:26121, HumanCyc Gene:HS13464, ModBase:Q96EI5, NCBI Gene:79921, RefSeq DNA:NG_016315, RefSeq DNA:NT_011651, RefSeq Protein:NP_001006936, RefSeq Protein:NP_001006937, RefSeq Protein:NP_001006938, RefSeq Protein:NP_079139, RefSeq RNA:NM_001006935, RefSeq RNA:NM_001006936, RefSeq RNA:NM_001006937, RefSeq RNA:NM_024863, UCSC Genome Browser:NM_024863, UniProtKB:Q96EI5 No chrX 102831159 102842659 103576231 103587736 +PA134950668 340543 HGNC:22282 ENSG00000204065 transcription elongation factor A like 5 TCEAL5 transcription elongation factor A (SII)-like 5 WEX4 Yes No Ensembl:ENSG00000204065, GeneCard:TCEAL5, HGNC:HGNC:22282, ModBase:Q5H9L2, NCBI Gene:340543, RefSeq DNA:NG_016591, RefSeq DNA:NT_011651, RefSeq Protein:NP_001012997, RefSeq RNA:NM_001012979, UniProtKB:Q5H9L2 No chrX 102528618 102531797 103273690 103276869 +PA142670828 158931 HGNC:24553 ENSG00000204071 transcription elongation factor A like 6 TCEAL6 transcription elongation factor A (SII)-like 6 WEX2 Yes No Comparative Toxicogenomics Database:158931, Ensembl:ENSG00000204071, GeneCard:TCEAL6, HGNC:HGNC:24553, NCBI Gene:158931, RefSeq DNA:NT_011651, RefSeq Protein:NP_001006939, RefSeq RNA:NM_001006938, UniProtKB:Q6IPX3 No chrX 101394933 101397388 102139961 102142416 +PA134936264 56849 HGNC:28336 ENSG00000182916 transcription elongation factor A like 7 TCEAL7 transcription elongation factor A (SII)-like 7 MGC23947, WEX5 Yes No Ensembl:ENSG00000182916, GeneCard:TCEAL7, HGNC:HGNC:28336, NCBI Gene:56849, OMIM:300771, RefSeq DNA:NT_011651, RefSeq Protein:NP_689491, RefSeq RNA:NM_152278, UniProtKB:Q9BRU2 No chrX 102585114 102587251 103330186 103332326 +PA134991274 90843 HGNC:28683 ENSG00000180964 transcription elongation factor A like 8 TCEAL8 transcription elongation factor A (SII)-like 8 MGC45400, WEX3 Yes No Comparative Toxicogenomics Database:90843, Ensembl:ENSG00000180964, GeneCard:TCEAL8, HGNC:HGNC:28683, HumanCyc Gene:HS17602, NCBI Gene:90843, RefSeq DNA:NG_016256, RefSeq DNA:NT_011651, RefSeq Protein:NP_001006685, RefSeq Protein:NP_699164, RefSeq RNA:NM_001006684, RefSeq RNA:NM_153333, UniProtKB:Q8IYN2 No chrX 102507923 102510121 103252995 103255193 +PA134921975 51186 HGNC:30084 ENSG00000185222 transcription elongation factor A like 9 TCEAL9 WW domain binding protein 5, pp21 homolog DKFZp313K1940, TCEAL9, WBP5, WEX6 Yes No Comparative Toxicogenomics Database:51186, Ensembl:ENSG00000185222, GeneCard:WBP5, HGNC:HGNC:30084, NCBI Gene:51186, RefSeq DNA:NT_011651, RefSeq Protein:NP_001006613, RefSeq Protein:NP_001006614, RefSeq Protein:NP_001006615, RefSeq Protein:NP_057387, RefSeq RNA:NM_001006612, RefSeq RNA:NM_001006613, RefSeq RNA:NM_001006614, RefSeq RNA:NM_016303, UniProtKB:Q9UHQ7 No chrX 102611380 102613397 103356452 103358469 +PA164726422 170082 HGNC:28277 ENSG00000176896 transcription elongation factor A N-terminal and central domain containing TCEANC transcription elongation factor A (SII) N-terminal and central domain containing MGC17403, TCEANC1 Yes No Ensembl:ENSG00000176896, GeneCard:TCEANC, HGNC:HGNC:28277, HumanCyc Gene:HS16747, NCBI Gene:170082, RefSeq DNA:NT_167197, RefSeq Protein:NP_689847, RefSeq RNA:NM_152634 No chrX 13671252 13683528 13653106 13665409 +PA142672531 127428 HGNC:26494 ENSG00000116205 transcription elongation factor A N-terminal and central domain containing 2 TCEANC2 transcription elongation factor A (SII) N-terminal and central domain containing 2 C1orf83, FLJ32112 Yes No Ensembl:ENSG00000116205, GeneCard:C1orf83, HGNC:HGNC:26494, HumanCyc Gene:HS12862, ModBase:Q96MN5, NCBI Gene:127428, RefSeq DNA:NT_032977, RefSeq Protein:NP_694580, RefSeq RNA:NM_153035, UniProtKB:Q96MN5 No chr1 54519274 54565416 54053572 54112519 +PA38007 10915 HGNC:15630 ENSG00000113649 transcription elongation regulator 1 TCERG1 """TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"", ""co-activator of 150 kDa"", ""transcription factor CA150""" CA150, TAF2S, Urn1 Yes No Comparative Toxicogenomics Database:10915, Ensembl:ENSG00000113649, GenAtlas:TCERG1, GeneCard:TCERG1, HGNC:HGNC:15630, HumanCyc Gene:HS03706, ModBase:O14776, NCBI Gene:10915, OMIM:605409, RefSeq DNA:NT_029289, RefSeq Protein:NP_001035095, RefSeq Protein:NP_006697, RefSeq RNA:NM_001040006, RefSeq RNA:NM_006706, UCSC Genome Browser:NM_006706, UniProtKB:O14776 No chr5 145826873 145891071 146447124 146511508 +PA134864258 256536 HGNC:23533 ENSG00000176769 transcription elongation regulator 1 like TCERG1L transcription elongation regulator 1-like FLJ38950 Yes No Ensembl:ENSG00000176769, GeneCard:TCERG1L, HGNC:HGNC:23533, ModBase:Q5VWI1, NCBI Gene:256536, RefSeq DNA:NT_008818, RefSeq Protein:NP_777597, RefSeq RNA:NM_174937, UniProtKB:Q5VWI1 No chr10 132890655 133109984 131092391 131311721 +PA36381 6938 HGNC:11623 ENSG00000140262 transcription factor 12 TCF12 helix-loop-helix transcription factor 4 HEB, HTF4, HsT17266, bHLHb20, p64 Yes No Comparative Toxicogenomics Database:6938, Ensembl:ENSG00000140262, GenAtlas:TCF12, GeneCard:TCF12, HGNC:HGNC:11623, HumanCyc Gene:HS06690, ModBase:Q99081, NCBI Gene:6938, OMIM:600480, RefSeq DNA:NT_010194, RefSeq Protein:NP_003196, RefSeq Protein:NP_996919, RefSeq Protein:NP_996920, RefSeq Protein:NP_996921, RefSeq Protein:NP_996923, RefSeq RNA:NM_003205, RefSeq RNA:NM_207036, RefSeq RNA:NM_207037, RefSeq RNA:NM_207038, RefSeq RNA:NM_207040, UCSC Genome Browser:NM_003205, UniProtKB:Q86VM2, UniProtKB:Q99081 No chr15 57210833 57580716 56918090 57291261 +PA36382 6939 HGNC:11627 ENSG00000125878 transcription factor 15 TCF15 transcription factor 15 (basic helix-loop-helix) EC2, PARAXIS, bHLHa40 Yes No Comparative Toxicogenomics Database:6939, Ensembl:ENSG00000125878, GenAtlas:TCF15, GeneCard:TCF15, HGNC:HGNC:11627, HumanCyc Gene:HS04964, ModBase:Q12870, NCBI Gene:6939, OMIM:601010, RefSeq DNA:NT_011387, RefSeq Protein:NP_004600, RefSeq RNA:NM_004609, UCSC Genome Browser:NM_004609, UniProtKB:A4LBB6, UniProtKB:Q12870, UniProtKB:Q6NVX3 No chr20 584637 590910 603993 610266 +PA36384 6941 HGNC:11629 ENSG00000137310 transcription factor 19 TCF19 SC1 Yes Yes Comparative Toxicogenomics Database:6941, Ensembl:ENSG00000137310, GenAtlas:TCF19, GeneCard:TCF19, HGNC:HGNC:11629, HumanCyc Gene:HS06307, ModBase:Q9BUM2, NCBI Gene:6941, OMIM:600912, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001070979, RefSeq Protein:NP_009040, RefSeq RNA:NM_001077511, RefSeq RNA:NM_007109, UCSC Genome Browser:NM_007109, UniProtKB:Q9Y242 No chr6 31126303 31134183 31158524 31164215 +PA36386 6942 HGNC:11631 ENSG00000100207 transcription factor 20 TCF20 stromelysin-1 platelet-derived growth factor-responsive element binding protein, transcription factor 20 (AR1) AR1, SPBP Yes Yes Comparative Toxicogenomics Database:6942, Ensembl:ENSG00000100207, GenAtlas:TCF20, GeneCard:TCF20, HGNC:HGNC:11631, HumanCyc Gene:HS02000, ModBase:Q9UGU0, NCBI Gene:6942, OMIM:603107, RefSeq DNA:NT_011520, RefSeq Protein:NP_005641, RefSeq Protein:NP_852469, RefSeq RNA:NM_005650, RefSeq RNA:NM_181492, UCSC Genome Browser:NM_005650, UniProtKB:Q9UGU0 No chr22 42556019 42664768 42160013 42283927 +PA36387 6943 HGNC:11632 ENSG00000118526 transcription factor 21 TCF21 POD1, bHLHa23 Yes No Comparative Toxicogenomics Database:6943, Ensembl:ENSG00000118526, GenAtlas:TCF21, GeneCard:TCF21, HGNC:HGNC:11632, HumanCyc Gene:HS04233, ModBase:O43680, NCBI Gene:6943, OMIM:603306, RefSeq DNA:NT_025741, RefSeq Protein:NP_003197, RefSeq Protein:NP_938206, RefSeq RNA:NM_003206, RefSeq RNA:NM_198392, UCSC Genome Browser:NM_003206, UniProtKB:O43680 No chr6 134210259 134216675 133889121 133895537 +PA38359 150921 HGNC:18602 ENSG00000163792 transcription factor 23 TCF23 OUT, bHLHa24 Yes No Ensembl:ENSG00000163792, GenAtlas:TCF23, GeneCard:TCF23, HGNC:HGNC:18602, ModBase:Q7RTU1, NCBI Gene:150921, OMIM:609635, RefSeq DNA:NT_022184, RefSeq Protein:NP_786951, RefSeq RNA:NM_175769, UniProtKB:Q7RTU1 No chr2 27371835 27376402 27148895 27153577 +PA142670826 100129654 HGNC:32275 ENSG00000261787 transcription factor 24 TCF24 bHLHa25 Yes No Ensembl:ENSG00000261787, GeneCard:TCF24, HGNC:HGNC:32275, NCBI Gene:100129654, RefSeq DNA:NT_008183, RefSeq Protein:NP_001180431, RefSeq Protein:XP_001715573, RefSeq Protein:XP_001715613, RefSeq Protein:XP_001732882, RefSeq RNA:NM_001193502, RefSeq RNA:XM_001715521, RefSeq RNA:XM_001715561, RefSeq RNA:XM_001732830 No chr8 67858736 67874825 66946501 66962592 +PA145007492 22980 HGNC:29181 ENSG00000141002 transcription factor 25 TCF25 transcription factor 25 (basic helix-loop-helix) KIAA1049, Nulp1 Yes No Comparative Toxicogenomics Database:22980, Ensembl:ENSG00000141002, GeneCard:TCF25, HGNC:HGNC:29181, HumanCyc Gene:HS13855, ModBase:Q9BQ70, NCBI Gene:22980, OMIM:612326, RefSeq DNA:NT_010542, RefSeq Protein:NP_055787, RefSeq RNA:NM_014972, UniProtKB:Q9BQ70 No chr16 89939994 89977795 89873583 89911384 +PA164742580 6929 HGNC:11633 ENSG00000071564 transcription factor 3 TCF3 E2A immunoglobulin enhancer-binding factor E12/E47, VDR interacting repressor, immunoglobulin transcription factor 1, kappa-E2-binding factor, transcription factor E2-alpha E2A, E47, ITF1, MGC129647, MGC129648, VDIR, bHLHb21, p75 Yes No Ensembl:ENSG00000071564, GeneCard:TCF3, HGNC:HGNC:11633, HumanCyc Gene:HS01035, ModBase:P15923, NCBI Gene:6929, OMIM:147141, RefSeq DNA:NT_011255, RefSeq Protein:NP_001129611, RefSeq Protein:NP_003191, RefSeq RNA:NM_001136139, RefSeq RNA:NM_003200, UniProtKB:P15923, UniProtKB:Q2TB39 No chr19 1609289 1652328 1609290 1652590 +PA164742621 6925 HGNC:11634 ENSG00000196628 transcription factor 4 TCF4 SL3-3 enhancer factor 2, class B basic helix-loop-helix protein 19, immunoglobulin transcription factor 2 E2-2, ITF2, SEF2-1B, bHLHb19 Yes No Ensembl:ENSG00000196628, GeneCard:TCF4, HGNC:HGNC:11634, ModBase:P15884, NCBI Gene:6925, OMIM:602272, OMIM:610954, RefSeq DNA:NG_011716, RefSeq DNA:NT_025028, RefSeq Protein:NP_001077431, RefSeq Protein:NP_003190, RefSeq RNA:NM_001083962, RefSeq RNA:NM_003199, UniProtKB:B3KVA4, UniProtKB:P15884 No chr18 52889562 53303252 55222331 55635993 +PA36392 6932 HGNC:11639 ENSG00000081059 transcription factor 7 TCF7 """T-cell-factor-7"", ""transcription factor 7 (T-cell specific, HMG-box)""" TCF-1 Yes No Comparative Toxicogenomics Database:6932, Ensembl:ENSG00000081059, GenAtlas:TCF7, GeneCard:TCF7, HGNC:HGNC:11639, HumanCyc Gene:HS01383, ModBase:P36402, NCBI Gene:6932, OMIM:189908, RefSeq DNA:NT_034772, RefSeq Protein:NP_001128323, RefSeq Protein:NP_001128324, RefSeq Protein:NP_003193, RefSeq Protein:NP_963963, RefSeq Protein:NP_963964, RefSeq Protein:NP_963965, RefSeq Protein:NP_998813, RefSeq RNA:NM_001134851, RefSeq RNA:NM_001134852, RefSeq RNA:NM_003202, RefSeq RNA:NM_201632, RefSeq RNA:NM_201633, RefSeq RNA:NM_201634, RefSeq RNA:NM_213648, RefSeq RNA:NR_033449, UCSC Genome Browser:NM_003202, UniProtKB:P36402 No chr5 133450402 133483920 134114703 134148229 +PA36393 83439 HGNC:11640 ENSG00000152284 transcription factor 7 like 1 TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) TCF3 Yes No Comparative Toxicogenomics Database:83439, Ensembl:ENSG00000152284, GenAtlas:TCF7L1, GeneCard:TCF7L1, HGNC:HGNC:11640, HumanCyc Gene:HS07805, ModBase:Q9HCS4, NCBI Gene:83439, OMIM:604652, RefSeq DNA:NT_022184, RefSeq Protein:NP_112573, RefSeq RNA:NM_031283, UCSC Genome Browser:NM_031283, UniProtKB:Q9HCS4 No chr2 85360583 85537511 85133460 85310388 +PA36394 6934 HGNC:11641 ENSG00000148737 transcription factor 7 like 2 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) TCF-4, TCF4 Yes Yes Comparative Toxicogenomics Database:6934, Ensembl:ENSG00000148737, GenAtlas:TCF7L2, GeneCard:TCF7L2, HGNC:HGNC:11641, HumanCyc Gene:HS07558, ModBase:Q9NQB7, NCBI Gene:6934, OMIM:125853, OMIM:602228, RefSeq DNA:NG_012631, RefSeq DNA:NT_030059, RefSeq Protein:NP_001139746, RefSeq Protein:NP_001139755, RefSeq Protein:NP_001139756, RefSeq Protein:NP_001139757, RefSeq Protein:NP_001139758, RefSeq Protein:NP_001185454, RefSeq Protein:NP_001185455, RefSeq Protein:NP_001185456, RefSeq Protein:NP_001185457, RefSeq Protein:NP_001185458, RefSeq Protein:NP_001185459, RefSeq Protein:NP_001185460, RefSeq Protein:NP_110383, RefSeq RNA:NM_001146274, RefSeq RNA:NM_001146283, RefSeq RNA:NM_001146284, RefSeq RNA:NM_001146285, RefSeq RNA:NM_001146286, RefSeq RNA:NM_001198525, RefSeq RNA:NM_001198526, RefSeq RNA:NM_001198527, RefSeq RNA:NM_001198528, RefSeq RNA:NM_001198529, RefSeq RNA:NM_001198530, RefSeq RNA:NM_001198531, RefSeq RNA:NM_030756, UCSC Genome Browser:NM_030756, UniProtKB:B4DRJ8, UniProtKB:C6ZRK5, UniProtKB:Q6FHW4, UniProtKB:Q9NQB0 No chr10 114709978 114927437 112950219 113167678 +PA36398 10732 HGNC:11646 ENSG00000101190 transcription factor like 5 TCFL5 HPV-16 E2 binding protein 1, transcription factor-like 5 (basic helix-loop-helix) CHA, E2BP-1, Figlb, bHLHe82 Yes No Ensembl:ENSG00000101190, GenAtlas:TCFL5, GeneCard:TCFL5, HGNC:HGNC:11646, HumanCyc Gene:HS02213, ModBase:Q9UL49, NCBI Gene:10732, OMIM:604745, RefSeq DNA:NT_011333, RefSeq Protein:NP_006593, RefSeq RNA:NM_006602, UCSC Genome Browser:NM_006602, UniProtKB:Q86TP4, UniProtKB:Q9UL49 No chr20 61472467 61493115 62841014 62861763 +PA36503 7062 HGNC:11791 ENSG00000159450 trichohyalin TCHH THH Yes No Ensembl:ENSG00000159450, GenAtlas:TCHH, GeneCard:TCHH, HGNC:HGNC:11791, HumanCyc Gene:HS08403, ModBase:Q07283, NCBI Gene:7062, OMIM:190370, RefSeq DNA:NT_004487, RefSeq Protein:NP_009044, RefSeq RNA:NM_007113, UCSC Genome Browser:NM_007113, UniProtKB:Q07283 No chr1 152078793 152087930 152106317 152115454 +PA134982007 126637 HGNC:31796 ENSG00000182898 trichohyalin like 1 TCHHL1 trichohyalin-like 1 S100A17, THHL1 Yes No Ensembl:ENSG00000182898, GeneCard:TCHHL1, HGNC:HGNC:31796, ModBase:Q5QJ38, NCBI Gene:126637, RefSeq DNA:NT_004487, RefSeq Protein:NP_001008536, RefSeq RNA:NM_001008536, UniProtKB:Q5QJ38 No chr1 152056620 152061540 152084144 152089064 +PA143485629 84260 HGNC:28135 ENSG00000139437 trichoplein keratin filament binding TCHP """mitostatin"", ""trichoplein, keratin filament binding""" MGC10854, TpMs Yes No Ensembl:ENSG00000139437, GeneCard:TCHP, HGNC:HGNC:28135, HumanCyc Gene:HS13780, ModBase:Q9BT92, NCBI Gene:84260, OMIM:612654, RefSeq DNA:NT_009775, RefSeq Protein:NP_001137324, RefSeq Protein:NP_115676, RefSeq RNA:NM_001143852, RefSeq RNA:NM_032300, UniProtKB:Q9BT92 No chr12 110338079 110355874 109880667 109918069 +PA25962 56892 HGNC:1357 ENSG00000176907 transcriptional and immune response regulator TCIM chromosome 8 open reading frame 4, human thyroid cancer 1 C8orf4, TC-1, TC1, hTC-1 Yes No Comparative Toxicogenomics Database:56892, Ensembl:ENSG00000176907, GenAtlas:C8orf4, GeneCard:C8orf4, HGNC:HGNC:1357, HumanCyc Gene:HS16748, NCBI Gene:56892, OMIM:607702, RefSeq DNA:NT_167187, RefSeq Protein:NP_064515, RefSeq RNA:NM_020130, UCSC Genome Browser:NM_020130, UniProtKB:Q9NR00 No chr8 40010987 40012827 40153468 40155308 +PA36399 10312 HGNC:11647 ENSG00000110719 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 TCIRG1 """T-cell immune response cDNA 7"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3"", ""V-ATPase subunit a3""" ATP6N1C, ATP6V0A3, Atp6i, OC-116, OC116, TIRC7, a3 Yes No Comparative Toxicogenomics Database:10312, Ensembl:ENSG00000110719, GenAtlas:TCIRG1, GeneCard:TCIRG1, HGNC:HGNC:11647, HumanCyc Gene:HS03333, ModBase:Q13488, NCBI Gene:10312, OMIM:259700, OMIM:604592, RefSeq DNA:NG_007878, RefSeq DNA:NT_167190, RefSeq Protein:NP_006010, RefSeq Protein:NP_006044, RefSeq RNA:NM_006019, RefSeq RNA:NM_006053, UCSC Genome Browser:NM_006019, UniProtKB:Q13488 No chr11 67806462 67818366 68038995 68053839 +PA36400 8115 HGNC:11648 ENSG00000100721 TCL1 family AKT coactivator A TCL1A T cell leukemia/lymphoma 1A, T-cell leukemia/lymphoma 1A TCL1 Yes Yes Ensembl:ENSG00000100721, GenAtlas:TCL1A, GeneCard:TCL1A, HGNC:HGNC:11648, NCBI Gene:8115, OMIM:186960, RefSeq DNA:NT_026437, RefSeq Protein:NP_001092195, RefSeq Protein:NP_068801, RefSeq RNA:NM_001098725, RefSeq RNA:NM_021966, UCSC Genome Browser:NM_021966, UniProtKB:P56279 No chr14 96176304 96180533 95694160 95714196 +PA36401 9623 HGNC:11649 ENSG00000213231 TCL1 family AKT coactivator B TCL1B T cell leukemia/lymphoma 1B, T-cell leukemia/lymphoma 1B, TCL1/MTCP1-like 1 TML1 Yes No Ensembl:ENSG00000213231, GenAtlas:TCL1B, GeneCard:TCL1B, HGNC:HGNC:11649, ModBase:O95988, NCBI Gene:9623, OMIM:603769, RefSeq DNA:NT_026437, RefSeq Protein:NP_004909, RefSeq Protein:NP_954676, RefSeq RNA:NM_004918, RefSeq RNA:NM_199206, UCSC Genome Browser:NM_004918, UniProtKB:O95988 No chr14 96152754 96158980 95686417 95692643 +PA37774 27004 HGNC:13463 ENSG00000187621 T-cell leukemia/lymphoma 6 (non-protein coding) TCL6 TCL6e1, TNG1, TNG2 Yes No Ensembl:ENSG00000187621, GenAtlas:TCL6, GeneCard:TCL6, HGNC:HGNC:13463, ModBase:P56846, NCBI Gene:27004, OMIM:604412, RefSeq DNA:NT_026437, RefSeq Protein:NP_036600, RefSeq Protein:NP_055233, RefSeq Protein:NP_065575, RefSeq Protein:NP_065577, RefSeq Protein:NP_065578, RefSeq Protein:NP_065579, RefSeq RNA:NM_012468, RefSeq RNA:NM_014418, RefSeq RNA:NM_020550, RefSeq RNA:NM_020552, RefSeq RNA:NM_020553, RefSeq RNA:NM_020554, RefSeq RNA:NR_028288, UCSC Genome Browser:NM_012468 No chr14 96117515 96144650 95651178 95673452 +PA36403 6947 HGNC:11652 ENSG00000134827 transcobalamin 1 TCN1 """haptocorin"", ""haptocorrin"", ""transcobalamin I (vitamin B12 binding protein, R binder family)""" TC1, TCI Yes No Ensembl:ENSG00000134827, GenAtlas:TCN1, GeneCard:TCN1, HGNC:HGNC:11652, HumanCyc Gene:HS05919, ModBase:P20061, NCBI Gene:6947, OMIM:189905, RefSeq DNA:NT_167190, RefSeq Protein:NP_001053, RefSeq RNA:NM_001062, UCSC Genome Browser:NM_001062, UniProtKB:P20061 No chr11 59620281 59634041 59852808 59866568 +PA36404 6948 HGNC:11653 ENSG00000185339 transcobalamin 2 TCN2 macrocytic anemia, transcobalamin II D22S676, D22S750, TC2 Yes No Comparative Toxicogenomics Database:6948, Ensembl:ENSG00000185339, GenAtlas:TCN2, GeneCard:TCN2, HGNC:HGNC:11653, HumanCyc Gene:HS01960, ModBase:P20062, NCBI Gene:6948, OMIM:275350, OMIM:613441, RefSeq DNA:NG_007263, RefSeq DNA:NT_011520, RefSeq Protein:NP_000346, RefSeq Protein:NP_001171655, RefSeq RNA:NM_000355, RefSeq RNA:NM_001184726, UCSC Genome Browser:NM_000355, UniProtKB:P20062, UniProtKB:Q96FD4 No chr22 31003070 31023047 30607083 30627060 +PA36405 6949 HGNC:11654 ENSG00000070814 treacle ribosome biogenesis factor 1 TCOF1 Treacher Collins-Franceschetti syndrome 1 TCS, treacle Yes No Comparative Toxicogenomics Database:6949, Ensembl:ENSG00000070814, GenAtlas:TCOF1, GeneCard:TCOF1, HGNC:HGNC:11654, HumanCyc Gene:HS01014, ModBase:Q13428, NCBI Gene:6949, OMIM:154500, OMIM:606847, RefSeq DNA:NG_011341, RefSeq DNA:NT_029289, RefSeq Protein:NP_000347, RefSeq Protein:NP_001008656, RefSeq Protein:NP_001008657, RefSeq Protein:NP_001128715, RefSeq Protein:NP_001128716, RefSeq Protein:NP_001128717, RefSeq Protein:NP_001182070, RefSeq RNA:NM_000356, RefSeq RNA:NM_001008656, RefSeq RNA:NM_001008657, RefSeq RNA:NM_001135243, RefSeq RNA:NM_001135244, RefSeq RNA:NM_001135245, RefSeq RNA:NM_001195141, UCSC Genome Browser:NM_000356, UniProtKB:A0JLU0, UniProtKB:B4DRA2, UniProtKB:B4E111, UniProtKB:Q13428 No chr5 149737202 149779871 150357639 150400308 +PA36406 6950 HGNC:11655 ENSG00000120438 t-complex 1 TCP1 CCT1, Ccta, D6S230E Yes No Comparative Toxicogenomics Database:6950, Ensembl:ENSG00000120438, GenAtlas:TCP1, GeneCard:TCP1, HGNC:HGNC:11655, HumanCyc Gene:HS04400, ModBase:P17987, NCBI Gene:6950, OMIM:186980, RefSeq DNA:NT_025741, RefSeq Protein:NP_001008897, RefSeq Protein:NP_110379, RefSeq RNA:NM_001008897, RefSeq RNA:NM_030752, UCSC Genome Browser:NM_030752, UniProtKB:P17987 No chr6 160199530 160212135 159778498 159789703 +PA36408 140290 HGNC:11657 ENSG00000242220 t-complex 10 like TCP10L t-complex 10-like C21orf77, PRED77 Yes No Ensembl:ENSG00000242220, GenAtlas:TCP10L, GeneCard:TCP10L, HGNC:HGNC:11657, HumanCyc Gene:HS09495, ModBase:Q8TDR4, NCBI Gene:140290, OMIM:608365, RefSeq DNA:NT_011512, RefSeq Protein:NP_653260, RefSeq RNA:NM_144659, UCSC Genome Browser:NM_144659, UniProtKB:Q8TDR4, UniProtKB:Q9NV44 No chr21 33947151 33957845 32574841 32585535 +PA134917651 401285 HGNC:21254 ENSG00000166984 t-complex 10 like 2 TCP10L2 t-complex 10-like 2 bA517H2.3 Yes No Ensembl:ENSG00000166984, GeneCard:TCP10L2, HGNC:HGNC:21254, NCBI Gene:401285, RefSeq DNA:NT_025741, RefSeq Protein:NP_001138593, RefSeq RNA:NM_001145121 No chr6 167584081 167596396 167170593 167196777 +PA36409 6954 HGNC:11658 ENSG00000124678 t-complex 11 TCP11 """fertilization-promoting peptide receptor"", ""t-complex 11, testis-specific""" D6S230E, FPPR, KIAA0229 Yes No Comparative Toxicogenomics Database:6954, Ensembl:ENSG00000124678, GenAtlas:TCP11, GeneCard:TCP11, HGNC:HGNC:11658, HumanCyc Gene:HS04815, NCBI Gene:6954, OMIM:186982, RefSeq DNA:NT_007592, RefSeq Protein:NP_001357616, RefSeq Protein:NP_061149, RefSeq RNA:NM_001370687, RefSeq RNA:NM_018679, UCSC Genome Browser:NM_018679, UniProtKB:Q8WWU5 No chr6 35085848 35109187 35118071 35141642 +PA142670824 55346 HGNC:25655 ENSG00000176148 t-complex 11 like 1 TCP11L1 t-complex 11, testis-specific-like 1 FLJ11336 Yes No Comparative Toxicogenomics Database:55346, Ensembl:ENSG00000176148, GeneCard:TCP11L1, HGNC:HGNC:25655, HumanCyc Gene:HS16599, ModBase:Q9NUJ3, NCBI Gene:55346, RefSeq DNA:NT_009237, RefSeq Protein:NP_001139013, RefSeq Protein:NP_060863, RefSeq RNA:NM_001145541, RefSeq RNA:NM_018393, UniProtKB:B3KQZ4, UniProtKB:Q9NUJ3 No chr11 33060963 33095109 33039417 33079454 +PA142670825 255394 HGNC:28627 ENSG00000166046 t-complex 11 like 2 TCP11L2 t-complex 11, testis-specific-like 2 MGC40368 Yes No Comparative Toxicogenomics Database:255394, Ensembl:ENSG00000166046, GeneCard:TCP11L2, HGNC:HGNC:28627, HumanCyc Gene:HS15398, ModBase:Q8N4U5, NCBI Gene:255394, RefSeq DNA:NT_029419, RefSeq Protein:NP_689985, RefSeq RNA:NM_152772, UniProtKB:Q8N4U5 No chr12 106696570 106741365 106302026 106347455 +PA166123746 100996631 HGNC:48369 ENSG00000268235 t-complex 11 family, X-linked 1 TCP11X1 Yes No Ensembl:ENSG00000268235, HGNC:HGNC:48369, NCBI Gene:100996631 No +PA166123747 100996648 HGNC:48335 ENSG00000215029 t-complex 11 family, X-linked 2 TCP11X2 Yes No Ensembl:ENSG00000215029, HGNC:HGNC:48335, NCBI Gene:100996648 No chrX +PA36411 6952 HGNC:11660 t-complex 1 pseudogene 2 TCP1P2 Yes No GenAtlas:TCP1L2, GeneCard:TCP1P2, HGNC:HGNC:11660, NCBI Gene:6952, RefSeq DNA:NG_003036, RefSeq DNA:NT_006576 No chr5 41585778 41587992 41585767 41587981 +PA164726435 400013 HGNC:21630 ENSG00000256849 t-complex 1 pseudogene 3 TCP1P3 TCP1L3 Yes No Ensembl:ENSG00000256849, GeneCard:TCP1P3, HGNC:HGNC:21630, NCBI Gene:400013, RefSeq DNA:NG_021108, RefSeq DNA:NT_009714, RefSeq RNA:XR_017001, RefSeq RNA:XR_019347, RefSeq RNA:XR_039228 No chr12 20094133 20096043 19941199 19943109 +PA36412 6988 HGNC:11692 ENSG00000145022 T cell leukemia translocation altered TCTA T-cell leukemia translocation altered Yes No Comparative Toxicogenomics Database:6988, Ensembl:ENSG00000145022, GenAtlas:TCTA, GeneCard:TCTA, HGNC:HGNC:11692, HumanCyc Gene:HS07224, NCBI Gene:6988, OMIM:600690, RefSeq DNA:NT_022517, RefSeq Protein:NP_071503, RefSeq RNA:NM_022171, UCSC Genome Browser:NM_022171, UniProtKB:P57738 No chr3 49449639 49453909 49412206 49416476 +PA36413 202500 HGNC:11693 ENSG00000146221 t-complex-associated-testis-expressed 1 TCTE1 D6S46, DRC5, FAP155, MGC33600 Yes No Ensembl:ENSG00000146221, GenAtlas:TCTE1, GeneCard:TCTE1, HGNC:HGNC:11693, ModBase:Q5JU00, NCBI Gene:202500, OMIM:186975, RefSeq DNA:NT_007592, RefSeq Protein:NP_872345, RefSeq RNA:NM_182539, UniProtKB:Q5JU00 No chr6 44247248 44265458 44280160 44297805 +PA162405437 79600 HGNC:26113 ENSG00000204852 tectonic family member 1 TCTN1 FLJ21127, JBTS13, TECT1 Yes No Ensembl:ENSG00000204852, GeneCard:TCTN1, HGNC:HGNC:26113, ModBase:Q2MV58, NCBI Gene:79600, OMIM:609863, RefSeq DNA:NT_009775, RefSeq Protein:NP_001076006, RefSeq Protein:NP_001076007, RefSeq Protein:NP_001167446, RefSeq Protein:NP_001167447, RefSeq Protein:NP_078825, RefSeq RNA:NM_001082537, RefSeq RNA:NM_001082538, RefSeq RNA:NM_001173975, RefSeq RNA:NM_001173976, RefSeq RNA:NM_024549, UniProtKB:Q2MV58 No chr12 111051832 111086935 110614027 110649130 +PA162405472 79867 HGNC:25774 ENSG00000168778 tectonic family member 2 TCTN2 Meckel syndrome, type 8 C12orf38, FLJ12975, JBTS24, MKS8, TECT2 Yes No Ensembl:ENSG00000168778, GeneCard:TCTN2, HGNC:HGNC:25774, ModBase:Q96GX1, NCBI Gene:79867, RefSeq DNA:NT_009755, RefSeq Protein:NP_001137322, RefSeq Protein:NP_079085, RefSeq RNA:NM_001143850, RefSeq RNA:NM_024809, UniProtKB:A8K7Y8, UniProtKB:Q96GX1 No chr12 124155660 124192950 123671108 123708405 +PA162405513 26123 HGNC:24519 ENSG00000119977 tectonic family member 3 TCTN3 C10orf61, DKFZP564D116, JBTS18, TECT3 Yes No Ensembl:ENSG00000119977, GeneCard:TCTN3, HGNC:HGNC:24519, HumanCyc Gene:HS12969, NCBI Gene:26123, RefSeq DNA:NT_030059, RefSeq Protein:NP_001137445, RefSeq Protein:NP_056446, RefSeq RNA:NM_001143973, RefSeq RNA:NM_015631, UniProtKB:B4DR81, UniProtKB:Q6NUS6 No chr10 97423153 97453900 95663396 95694143 +PA36419 6996 HGNC:11700 ENSG00000139372 thymine DNA glycosylase TDG G/T mismatch-specific thymine DNA glycosylase, thymine-DNA glycosylase Yes No Comparative Toxicogenomics Database:6996, Ensembl:ENSG00000139372, GenAtlas:TDG, GeneCard:TDG, HGNC:HGNC:11700, HumanCyc Gene:HS06615, ModBase:Q13569, NCBI Gene:6996, OMIM:601423, RefSeq DNA:NT_029419, RefSeq Protein:NP_003202, RefSeq RNA:NM_003211, UCSC Genome Browser:NM_003211, UniProtKB:B4E127, UniProtKB:Q13569 No chr12 104359593 104382656 103965815 103988878 +PA36421 22816 HGNC:11702 ENSG00000183514 teratocarcinoma-derived growth factor 1 pseudogene 2 TDGF1P2 CR-2, CRIPTO-2 Yes No Ensembl:ENSG00000183514, GenAtlas:TDGF2, GeneCard:TDGF1P2, HGNC:HGNC:11702, NCBI Gene:22816, RefSeq DNA:NG_001244, RefSeq DNA:NT_005403, RefSeq Protein:XP_001723129, RefSeq Protein:XP_001726054, RefSeq RNA:XM_001723077, RefSeq RNA:XM_001726002 No chr2 228733886 228735272 227869170 227870585 +PA36423 22815 HGNC:11704 ENSG00000217566 teratocarcinoma-derived growth factor 1 pseudogene 4 TDGF1P4 CR-4, CRIPTO-4 Yes No Ensembl:ENSG00000217566, GenAtlas:TDGF4, GeneCard:TDGF1P4, HGNC:HGNC:11704, NCBI Gene:22815, RefSeq DNA:NG_001243, RefSeq DNA:NT_007592 No chr6 3941512 3942254 3941278 3942020 +PA36424 22814 HGNC:11705 ENSG00000254274 teratocarcinoma-derived growth factor 1 pseudogene 5 TDGF1P5 CR-5, CRIPTO-5 Yes No Ensembl:ENSG00000254274, GenAtlas:TDGF5, GeneCard:TDGF1P5, HGNC:HGNC:11705, NCBI Gene:22814, RefSeq DNA:NG_001242, RefSeq DNA:NT_008183 No chr8 54985551 54986497 54072991 54073937 +PA36425 22813 HGNC:11706 ENSG00000241438 teratocarcinoma-derived growth factor 1 pseudogene 6 TDGF1P6 CR-6, CRIPTO-6 Yes No Ensembl:ENSG00000241438, GenAtlas:TDGF6, GeneCard:TDGF1P6, HGNC:HGNC:11706, NCBI Gene:22813, RefSeq DNA:NG_012350, RefSeq DNA:NT_005612 No chr3 135874390 135875886 136155548 136157044 +PA36426 100129080 HGNC:11707 ENSG00000269584 teratocarcinoma-derived growth factor 1 pseudogene 7 TDGF1P7 CR-7, CRIPTO-7 Yes No Ensembl:ENSG00000269584, GenAtlas:TDGF7, GeneCard:TDGF1P7, HGNC:HGNC:11707, NCBI Gene:100129080, RefSeq DNA:NG_012349, RefSeq DNA:NT_011109 No chr19 40025099 40026973 39534496 39536333 +PA37977 157739 HGNC:15547 ENSG00000154316 L-threonine dehydrogenase TDH short chain dehydrogenase/reductase family 14E, member 1 (pseudogene) FLJ25033, SDR14E1P Yes No Comparative Toxicogenomics Database:157739, Ensembl:ENSG00000154316, GenAtlas:TDH, GeneCard:TDH, HGNC:HGNC:15547, ModBase:Q8IZJ6, NCBI Gene:157739, RefSeq DNA:NT_077531, RefSeq RNA:NR_001578, UCSC Genome Browser:NM_152566 No chr8 11197146 11225961 11339637 11368452 +PA36427 6999 HGNC:11708 ENSG00000151790 tryptophan 2,3-dioxygenase TDO2 TDO, TPH2 Yes No Comparative Toxicogenomics Database:6999, Ensembl:ENSG00000151790, GenAtlas:TDO2, GeneCard:TDO2, HGNC:HGNC:11708, HumanCyc Gene:HS07771, ModBase:P48775, NCBI Gene:6999, OMIM:191070, RefSeq DNA:NT_016354, RefSeq Protein:NP_005642, RefSeq RNA:NM_005651, UCSC Genome Browser:NM_005651, UniProtKB:P48775 No chr4 156824845 156841558 155903693 155920406 +PA421 55775 HGNC:18884 ENSG00000042088 tyrosyl-DNA phosphodiesterase 1 TDP1 FLJ11090, SCAN1 Yes Yes Comparative Toxicogenomics Database:55775, Ensembl:ENSG00000042088, GenAtlas:TDP1, GeneCard:TDP1, HGNC:HGNC:18884, HumanCyc Gene:HS12097, ModBase:Q9NUW8, NCBI Gene:55775, OMIM:607198, OMIM:607250, RefSeq DNA:NG_009164, RefSeq DNA:NT_026437, RefSeq Protein:NP_001008744, RefSeq Protein:NP_060789, RefSeq RNA:NM_001008744, RefSeq RNA:NM_018319, UCSC Genome Browser:NM_018319, UniProtKB:B3KN41, UniProtKB:Q9NUW8 No chr14 90421944 90511108 89954935 90044764 +PA165618310 51567 HGNC:17768 ENSG00000111802 tyrosyl-DNA phosphodiesterase 2 TDP2 TTRAP Yes No Ensembl:ENSG00000111802, GeneCard:TDP2, HGNC:HGNC:17768, HumanCyc Gene:HS03470, ModBase:O95551, NCBI Gene:51567, OMIM:605764, RefSeq DNA:NT_007592, RefSeq Protein:NP_057698, RefSeq RNA:NM_016614, UniProtKB:O95551 No chr6 24650205 24667115 24649977 24666887 +PA36430 56165 HGNC:11712 ENSG00000095627 tudor domain containing 1 TDRD1 cancer/testis antigen 41.1 CT41.1 Yes No Ensembl:ENSG00000095627, GenAtlas:TDRD1, GeneCard:TDRD1, HGNC:HGNC:11712, HumanCyc Gene:HS01829, NCBI Gene:56165, OMIM:605796, RefSeq DNA:NT_030059, RefSeq Protein:NP_942090, RefSeq RNA:NM_198795, UCSC Genome Browser:NM_031278, UniProtKB:Q9BXT4 No chr10 115939015 115992425 114174442 114232669 +PA142670823 126668 HGNC:25316 ENSG00000163239 tudor domain containing 10 TDRD10 DKFZp434M202 Yes No Ensembl:ENSG00000163239, GeneCard:TDRD10, HGNC:HGNC:25316, NCBI Gene:126668, RefSeq DNA:NT_004487, RefSeq Protein:NP_001091945, RefSeq Protein:NP_872305, RefSeq RNA:NM_001098475, RefSeq RNA:NM_182499, UniProtKB:Q5VZ19 No chr1 154474695 154520624 154502219 154548147 +PA162405542 91646 HGNC:25044 ENSG00000173809 tudor domain containing 12 TDRD12 ECAT8, FLJ13072 Yes No Ensembl:ENSG00000173809, GeneCard:TDRD12, HGNC:HGNC:25044, ModBase:Q587J7, NCBI Gene:91646, RefSeq DNA:NT_011109, RefSeq Protein:NP_001104292, RefSeq RNA:NM_001110822, UniProtKB:Q587J7 No chr19 33210679 33281714 32719773 32829580 +PA166049156 100129278 HGNC:45037 ENSG00000218819 tudor domain containing 15 TDRD15 Yes No Ensembl:ENSG00000218819, HGNC:HGNC:45037, NCBI Gene:100129278 No chr2 +PA134962690 81550 HGNC:20612 ENSG00000083544 tudor domain containing 3 TDRD3 FLJ21007 Yes No Comparative Toxicogenomics Database:81550, Ensembl:ENSG00000083544, GeneCard:TDRD3, HGNC:HGNC:20612, HumanCyc Gene:HS01444, ModBase:Q9H7E2, NCBI Gene:81550, RefSeq DNA:NT_024524, RefSeq Protein:NP_001139542, RefSeq Protein:NP_001139543, RefSeq Protein:NP_110421, RefSeq RNA:NM_001146070, RefSeq RNA:NM_001146071, RefSeq RNA:NM_030794, UniProtKB:Q9H7E2 No chr13 60970591 61148013 60396457 60573879 +PA134953461 163589 HGNC:20614 ENSG00000162782 tudor domain containing 5 TDRD5 FLJ34823, TUDOR3 Yes No Ensembl:ENSG00000162782, GeneCard:TDRD5, HGNC:HGNC:20614, HumanCyc Gene:HS08741, ModBase:Q8NAT2, NCBI Gene:163589, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186014, RefSeq Protein:NP_001186018, RefSeq Protein:NP_001186020, RefSeq Protein:NP_001186021, RefSeq Protein:NP_775804, RefSeq RNA:NM_001199085, RefSeq RNA:NM_001199089, RefSeq RNA:NM_001199091, RefSeq RNA:NM_001199092, RefSeq RNA:NM_173533, UniProtKB:Q8NAT2 No chr1 179560748 179660407 179591613 179691272 +PA134945900 221400 HGNC:21339 ENSG00000180113 tudor domain containing 6 TDRD6 cancer/testis antigen 41.2, spermatogenesis associated 36 CT41.2, NY-CO-45, SPATA36, bA446F17.4 Yes Yes Ensembl:ENSG00000180113, GeneCard:TDRD6, HGNC:HGNC:21339, ModBase:O60522, NCBI Gene:221400, OMIM:611200, RefSeq DNA:NT_007592, RefSeq Protein:NP_001010870, RefSeq Protein:NP_001161831, RefSeq RNA:NM_001010870, RefSeq RNA:NM_001168359, UniProtKB:B3KWU2, UniProtKB:O60522 No chr6 46655612 46672056 46687875 46704319 +PA134937960 23424 HGNC:30831 ENSG00000196116 tudor domain containing 7 TDRD7 PCTAIRE2BP Yes No Comparative Toxicogenomics Database:23424, Ensembl:ENSG00000196116, GeneCard:TDRD7, HGNC:HGNC:30831, ModBase:Q8NHU6, NCBI Gene:23424, OMIM:611258, RefSeq DNA:NT_008470, RefSeq Protein:NP_055105, RefSeq RNA:NM_014290, UniProtKB:Q8NHU6 No chr9 100174302 100258407 97412020 97496125 +PA134890186 122402 HGNC:20122 ENSG00000156414 tudor domain containing 9 TDRD9 C14orf75, DKFZp434N0820, FLJ36164, NET54 Yes No Ensembl:ENSG00000156414, GeneCard:TDRD9, HGNC:HGNC:20122, HumanCyc Gene:HS08125, NCBI Gene:122402, RefSeq DNA:NT_026437, RefSeq Protein:NP_694591, RefSeq RNA:NM_153046, UniProtKB:Q86WA0, UniProtKB:Q8NDG6 No chr14 104394776 104519004 103928343 104052667 +PA36431 11022 HGNC:11713 ENSG00000182134 tudor and KH domain containing TDRKH TDRD2 Yes No Comparative Toxicogenomics Database:11022, Ensembl:ENSG00000182134, GenAtlas:TDRKH, GeneCard:TDRKH, HGNC:HGNC:11713, ModBase:Q9Y2W6, NCBI Gene:11022, OMIM:609501, RefSeq DNA:NT_004487, RefSeq Protein:NP_001077432, RefSeq Protein:NP_001077433, RefSeq Protein:NP_001077434, RefSeq Protein:NP_006853, RefSeq RNA:NM_001083963, RefSeq RNA:NM_001083964, RefSeq RNA:NM_001083965, RefSeq RNA:NM_006862, UCSC Genome Browser:NM_006862, UniProtKB:Q5SZR5, UniProtKB:Q9Y2W6 No chr1 151742741 151763052 151769354 151790576 +PA142672361 157695 HGNC:26951 ENSG00000180190 testis development related protein TDRP chromosome 8 open reading frame 42 C8orf42, INM01, TDRP1, TDRP2 Yes No Ensembl:ENSG00000180190, GeneCard:C8orf42, HGNC:HGNC:26951, NCBI Gene:157695, RefSeq DNA:NT_023736, RefSeq Protein:NP_778250, RefSeq RNA:NM_175075, UniProtKB:Q86YL5 No chr8 439790 495781 489790 545781 +PA36432 7003 HGNC:11714 ENSG00000187079 TEA domain transcription factor 1 TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor), transcriptional enhancer factor 1 AA, TCF13, TEF-1 Yes No Comparative Toxicogenomics Database:7003, Ensembl:ENSG00000187079, GenAtlas:TEAD1, GeneCard:TEAD1, HGNC:HGNC:11714, HumanCyc Gene:HS05297, ModBase:P28347, NCBI Gene:7003, OMIM:108985, OMIM:189967, RefSeq DNA:NG_021302, RefSeq DNA:NT_009237, RefSeq Protein:NP_068780, RefSeq RNA:NM_021961, UCSC Genome Browser:NM_021961, UniProtKB:P28347 No chr11 12695969 12966284 12674422 12944737 +PA36433 8463 HGNC:11715 ENSG00000074219 TEA domain transcription factor 2 TEAD2 TEA domain family member 2 ETF, TEF-4, TEF4 Yes No Ensembl:ENSG00000074219, GenAtlas:TEAD2, GeneCard:TEAD2, HGNC:HGNC:11715, HumanCyc Gene:HS01132, ModBase:Q15562, NCBI Gene:8463, OMIM:601729, RefSeq DNA:NT_011109, RefSeq Protein:NP_003589, RefSeq RNA:NM_003598, UCSC Genome Browser:NM_003598, UniProtKB:Q15562 No chr19 49843852 49865714 49340595 49362457 +PA36434 7005 HGNC:11716 ENSG00000007866 TEA domain transcription factor 3 TEAD3 TEA domain family member 3 ETFR-1, TEAD5, TEF-5 Yes No Comparative Toxicogenomics Database:7005, Ensembl:ENSG00000007866, GenAtlas:TEAD3, GeneCard:TEAD3, HGNC:HGNC:11716, HumanCyc Gene:HS00221, ModBase:Q99594, NCBI Gene:7005, OMIM:603170, RefSeq DNA:NT_007592, RefSeq Protein:NP_003205, RefSeq RNA:NM_003214, UCSC Genome Browser:NM_003214, UniProtKB:Q99594 No chr6 35441374 35464884 35473597 35497084 +PA36435 7004 HGNC:11717 ENSG00000197905 TEA domain transcription factor 4 TEAD4 TEA domain family member 4, transcriptional enhancer factor 3 EFTR-2, RTEF-1, TCF13L1, TEF-3, TEFR-1 Yes No Comparative Toxicogenomics Database:7004, Ensembl:ENSG00000197905, GenAtlas:TEAD4, GeneCard:TEAD4, HGNC:HGNC:11717, HumanCyc Gene:HS11240, ModBase:Q15561, NCBI Gene:7004, OMIM:601714, RefSeq DNA:NT_009759, RefSeq Protein:NP_003204, RefSeq Protein:NP_958849, RefSeq Protein:NP_958851, RefSeq RNA:NM_003213, RefSeq RNA:NM_201441, RefSeq RNA:NM_201443, UCSC Genome Browser:NM_003213, UniProtKB:Q15561, UniProtKB:Q6MZR9, UniProtKB:Q8NEV5 No chr12 3068478 3149842 2959312 3040676 +PA36436 7006 HGNC:11719 ENSG00000135605 tec protein tyrosine kinase TEC PSCTK4 Yes No Comparative Toxicogenomics Database:7006, Ensembl:ENSG00000135605, GenAtlas:TEC, GeneCard:TEC, HGNC:HGNC:11719, HumanCyc Gene:HS06035, ModBase:P42680, NCBI Gene:7006, OMIM:600583, RefSeq DNA:NT_006238, RefSeq Protein:NP_003206, RefSeq RNA:NM_003215, UCSC Genome Browser:NM_003215, UniProtKB:P42680 No chr4 48137800 48271814 48135783 48269864 +PA164726436 25851 HGNC:22214 ENSG00000205356 tectonin beta-propeller repeat containing 1 TECPR1 DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358 Yes No Ensembl:ENSG00000205356, GeneCard:TECPR1, HGNC:HGNC:22214, NCBI Gene:25851, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_056210, RefSeq RNA:NM_015395, UniProtKB:Q7Z6L1 No chr7 97844755 97881563 98215443 98252251 +PA164726437 9895 HGNC:19957 ENSG00000196663 tectonin beta-propeller repeat containing 2 TECPR2 KIAA0329 Yes No Ensembl:ENSG00000196663, GeneCard:TECPR2, HGNC:HGNC:19957, ModBase:O15040, NCBI Gene:9895, RefSeq DNA:NT_026437, RefSeq Protein:NP_001166102, RefSeq Protein:NP_055659, RefSeq RNA:NM_001172631, RefSeq RNA:NM_014844, UniProtKB:A5PKY3, UniProtKB:O15040 No chr14 102829300 102968818 102362912 102502481 +PA28946 9524 HGNC:4551 ENSG00000099797 trans-2,3-enoyl-CoA reductase TECR very-long-chain enoyl-CoA reductase GPSN2, MRT14, SC2, TER Yes No Comparative Toxicogenomics Database:9524, Ensembl:ENSG00000099797, GenAtlas:GPSN2, GeneCard:GPSN2, GeneCard:TECR, HGNC:HGNC:4551, HumanCyc Gene:HS01909, ModBase:Q9NZ01, NCBI Gene:9524, OMIM:610057, RefSeq DNA:NT_011295, RefSeq Protein:NP_612510, RefSeq RNA:NM_138501, RefSeq RNA:NR_038103, RefSeq RNA:NR_038104, UCSC Genome Browser:NM_004868, UniProtKB:Q9NZ01 No chr19 14640379 14676792 14527760 14565980 +PA165664664 253017 HGNC:27365 ENSG00000205678 trans-2,3-enoyl-CoA reductase like TECRL """glycoprotein, synaptic 2-like"", ""trans-2,3-enoyl-CoA reductase-like""" DKFZp313B2333, DKFZp313D0829, GPSN2L, SRD5A2L2, TERL Yes No Ensembl:ENSG00000205678, GeneCard:TECRL, HGNC:HGNC:27365, NCBI Gene:253017, RefSeq DNA:NT_022778, RefSeq Protein:NP_001010874, RefSeq RNA:NM_001010874, UniProtKB:Q5HYJ1 No chr4 65142024 65275196 64276298 64409509 +PA36437 7007 HGNC:11720 ENSG00000109927 tectorin alpha TECTA DFNA12, DFNA8, DFNB21 Yes No Comparative Toxicogenomics Database:7007, Ensembl:ENSG00000109927, GenAtlas:TECTA, GeneCard:TECTA, HGNC:HGNC:11720, HumanCyc Gene:HS03270, ModBase:O75443, NCBI Gene:7007, OMIM:601543, OMIM:602574, OMIM:603629, RefSeq DNA:NG_011633, RefSeq DNA:NT_033899, RefSeq Protein:NP_005413, RefSeq RNA:NM_005422, UCSC Genome Browser:NM_005422 No chr11 120973375 121062202 121102666 121190806 +PA36438 6975 HGNC:11721 ENSG00000119913 tectorin beta TECTB Yes No Ensembl:ENSG00000119913, GenAtlas:TECTB, GeneCard:TECTB, HGNC:HGNC:11721, HumanCyc Gene:HS12966, NCBI Gene:6975, OMIM:602653, RefSeq DNA:NT_030059, RefSeq Protein:NP_478129, RefSeq RNA:NM_058222, UCSC Genome Browser:NM_058222, UniProtKB:Q96PL2 No chr10 114043213 114064793 112283656 112305035 +PA134885988 283643 HGNC:20127 ENSG00000185347 tubulin epsilon and delta complex 1 TEDC1 chromosome 14 open reading frame 80 C14orf80 Yes No Ensembl:ENSG00000185347, GeneCard:C14orf80, HGNC:HGNC:20127, NCBI Gene:283643, RefSeq DNA:NT_026437, RefSeq Protein:NP_001128347, RefSeq Protein:NP_001128348, RefSeq Protein:NP_001128349, RefSeq Protein:NP_001185912, RefSeq RNA:NM_001134875, RefSeq RNA:NM_001134876, RefSeq RNA:NM_001134877, RefSeq RNA:NM_001198983, UniProtKB:B5MDG3, UniProtKB:Q86SX3, UniProtKB:Q86TT4 No chr14 105956192 105965585 105489855 105499248 +PA143485396 80178 HGNC:25849 ENSG00000162062 tubulin epsilon and delta complex 2 TEDC2 chromosome 16 open reading frame 59 C16orf59, FLJ13909 Yes No Ensembl:ENSG00000162062, GeneCard:C16orf59, HGNC:HGNC:25849, HumanCyc Gene:HS14893, ModBase:Q7L2K0, NCBI Gene:80178, RefSeq DNA:NT_010393, RefSeq Protein:NP_079384, RefSeq RNA:NM_025108, UniProtKB:Q7L2K0 No chr16 2510115 2514964 2460111 2464963 +PA142670818 127670 HGNC:30233 ENSG00000203730 transmembrane epididymal protein 1 TEDDM1 epididymal protein 9, putative membrane protein HE9, transmembrane protein 45C EDDM9, Epdd1, HE9, TMEM45C Yes No Ensembl:ENSG00000203730, GeneCard:TEDDM1, HGNC:HGNC:30233, ModBase:Q5T9Z0, NCBI Gene:127670, RefSeq DNA:NT_004487, RefSeq Protein:NP_741997, RefSeq RNA:NM_172000, UniProtKB:Q5T9Z0 No chr1 182367252 182369751 182398117 182400616 +PA36439 7008 HGNC:11722 ENSG00000167074 TEF transcription factor, PAR bZIP family member TEF """TEF, PAR bZIP transcription factor"", ""thyrotroph embryonic factor"", ""thyrotrophic embryonic factor""" KIAA1655 Yes No Comparative Toxicogenomics Database:7008, Ensembl:ENSG00000167074, GenAtlas:TEF, GeneCard:TEF, HGNC:HGNC:11722, HumanCyc Gene:HS09504, ModBase:Q10587, NCBI Gene:7008, OMIM:188595, RefSeq DNA:NT_011520, RefSeq Protein:NP_001138870, RefSeq Protein:NP_003207, RefSeq RNA:NM_001145398, RefSeq RNA:NM_003216, UCSC Genome Browser:NM_003216, UniProtKB:B0QYS8, UniProtKB:Q10587 No chr22 41763337 41795332 41367333 41399328 +PA142672226 79736 HGNC:26223 ENSG00000172171 transcription elongation factor, mitochondrial TEFM C17orf42, FLJ22729 Yes No Ensembl:ENSG00000172171, GeneCard:C17orf42, HGNC:HGNC:26223, HumanCyc Gene:HS16059, ModBase:Q96QE5, NCBI Gene:79736, RefSeq DNA:NT_010799, RefSeq Protein:NP_078959, RefSeq RNA:NM_024683, UniProtKB:Q96QE5 No chr17 29226001 29233286 30898983 30906775 +PA36441 7010 HGNC:11724 ENSG00000120156 TEK receptor tyrosine kinase TEK """TEK tyrosine kinase, endothelial"", ""angiopoietin-1 receptor""" CD202b, TIE-2, TIE2, VMCM, VMCM1 Yes No Comparative Toxicogenomics Database:7010, Ensembl:ENSG00000120156, GenAtlas:TEK, GeneCard:TEK, HGNC:HGNC:11724, HumanCyc Gene:HS04374, ModBase:Q02763, NCBI Gene:7010, OMIM:600195, OMIM:600221, RefSeq DNA:NG_011828, RefSeq DNA:NT_008413, RefSeq Protein:NP_000450, RefSeq RNA:NM_000459, UCSC Genome Browser:NM_000459, UniProtKB:Q02763, UniProtKB:Q59HG2, UniProtKB:Q8IV34 No chr9 27109147 27230172 27109141 27230178 +PA37976 83659 HGNC:15534 ENSG00000167858 tektin 1 TEKT1 Yes No Ensembl:ENSG00000167858, GenAtlas:TEKT1, GeneCard:TEKT1, HGNC:HGNC:15534, HumanCyc Gene:HS09652, ModBase:Q969V4, NCBI Gene:83659, OMIM:609002, RefSeq DNA:NT_010718, RefSeq Protein:NP_444515, RefSeq RNA:NM_053285, UCSC Genome Browser:NM_053285, UniProtKB:Q969V4 No chr17 6703300 6735077 6799981 6831741 +PA36442 27285 HGNC:11725 ENSG00000092850 tektin 2 TEKT2 tektin 2 (testicular) TEKTB1 Yes No Ensembl:ENSG00000092850, GenAtlas:TEKT2, GeneCard:TEKT2, HGNC:HGNC:11725, HumanCyc Gene:HS01781, ModBase:Q9UIF3, NCBI Gene:27285, OMIM:608953, RefSeq DNA:NT_032977, RefSeq Protein:NP_055281, RefSeq RNA:NM_014466, UCSC Genome Browser:NM_014466, UniProtKB:Q9UIF3 No chr1 36549676 36553877 36084075 36088275 +PA37865 64518 HGNC:14293 ENSG00000125409 tektin 3 TEKT3 FLJ32828 Yes No Comparative Toxicogenomics Database:64518, Ensembl:ENSG00000125409, GenAtlas:TEKT3, GeneCard:TEKT3, HGNC:HGNC:14293, HumanCyc Gene:HS04882, ModBase:Q9BXF9, NCBI Gene:64518, OMIM:612683, RefSeq DNA:NT_010718, RefSeq Protein:NP_114104, RefSeq RNA:NM_031898, UCSC Genome Browser:NM_031898, UniProtKB:Q9BXF9 No chr17 15207129 15244958 15303811 15343682 +PA142670819 150483 HGNC:31012 ENSG00000163060 tektin 4 TEKT4 MGC27019 Yes No Ensembl:ENSG00000163060, GeneCard:TEKT4, HGNC:HGNC:31012, HumanCyc Gene:HS08779, ModBase:Q8WW24, NCBI Gene:150483, RefSeq DNA:NT_022171, RefSeq Protein:NP_653306, RefSeq RNA:NM_144705, UniProtKB:Q8WW24 No chr2 95537188 95542568 94867767 94876829 +PA162405603 146279 HGNC:26554 ENSG00000153060 tektin 5 TEKT5 CT149, FLJ32871 Yes No Ensembl:ENSG00000153060, GeneCard:TEKT5, HGNC:HGNC:26554, HumanCyc Gene:HS07878, ModBase:Q96M29, NCBI Gene:146279, RefSeq DNA:NT_010393, RefSeq Protein:NP_653275, RefSeq RNA:NM_144674, UniProtKB:Q96M29 No chr16 10721358 10788802 10584610 10742416 +PA166352221 100128569 HGNC:34496 tektin bundle interacting protein 1 TEKTIP1 C19orf71 LOC100128569 Yes No HGNC:HGNC:34496, NCBI Gene:100128569 No 0 0 0 0 +PA145008634 126402 HGNC:26866 ENSG00000160994 tektin like 1 TEKTL1 coiled-coil domain containing 105 CCDC105, FLJ40365 Yes No Ensembl:ENSG00000160994, GeneCard:CCDC105, HGNC:HGNC:26866, HumanCyc Gene:HS14843, NCBI Gene:126402, RefSeq DNA:NT_011295, RefSeq Protein:NP_775753, RefSeq RNA:NM_173482, UniProtKB:Q8IYK2 No chr19 15121539 15134083 15010727 15023271 +PA162405604 9894 HGNC:29099 ENSG00000100726 telomere maintenance 2 TELO2 TEL2, telomere maintenance 2, homolog (S. cerevisiae) KIAA0683, TEL2, hCLK2 Yes No Ensembl:ENSG00000100726, GeneCard:TELO2, HGNC:HGNC:29099, HumanCyc Gene:HS12423, NCBI Gene:9894, OMIM:611140, RefSeq DNA:NT_010393, RefSeq Protein:NP_057195, RefSeq RNA:NM_016111, UniProtKB:B4DXS2, UniProtKB:Q9Y4R8 No chr16 1543352 1560460 1493344 1510459 +PA165431550 100134934 HGNC:37242 ENSG00000108504, ENSG00000257949 TEN1 subunit of CST complex TEN1 """TEN1 CST complex subunit"", ""TEN1 telomerase capping complex subunit homolog (S. cerevisiae)"", ""TEN1, CST complex subunit""" C17orf106, FLJ39785 Yes No Ensembl:ENSG00000108504, Ensembl:ENSG00000257949, GeneCard:TEN1, HGNC:HGNC:37242, NCBI Gene:100134934, OMIM:613130, RefSeq DNA:NT_010783, RefSeq Protein:NP_001106795, RefSeq RNA:NM_001113324, UniProtKB:Q86WV5 No chr17 73975298 73996667 75979217 76000586 +PA31904 10178 HGNC:8117 ENSG00000009694 teneurin transmembrane protein 1 TENM1 ODZ1, ODZ3, TEN-M1, TEN1, TNM Yes No Ensembl:ENSG00000009694, GenAtlas:ODZ1, GeneCard:ODZ1, HGNC:HGNC:8117, HumanCyc Gene:HS00263, ModBase:Q9UKZ4, NCBI Gene:10178, OMIM:300588, RefSeq DNA:NG_013249, RefSeq DNA:NT_011786, RefSeq Protein:NP_001156750, RefSeq Protein:NP_001156751, RefSeq Protein:NP_055068, RefSeq RNA:NM_001163278, RefSeq RNA:NM_001163279, RefSeq RNA:NM_014253, UCSC Genome Browser:NM_014253, UniProtKB:B2RTR5, UniProtKB:B7ZMH4, UniProtKB:Q9UKZ4 No chrX 123509753 124097666 124374680 125204305 +PA134909677 57451 HGNC:29943 ENSG00000145934 teneurin transmembrane protein 2 TENM2 KIAA1127, ODZ2, TEN2, Ten-M2 Yes No Ensembl:ENSG00000145934, GeneCard:ODZ2, HGNC:HGNC:29943, ModBase:Q9NT68, NCBI Gene:57451, OMIM:610119, RefSeq DNA:NT_023133, RefSeq Protein:NP_001116151, RefSeq RNA:NM_001122679 No chr5 166406083 167691162 166979066 168264159 +PA134961178 55714 HGNC:29944 ENSG00000218336 teneurin transmembrane protein 3 TENM3 KIAA1455, ODZ3, TEN3, Ten-M3 Yes No Comparative Toxicogenomics Database:55714, Ensembl:ENSG00000218336, GeneCard:ODZ3, HGNC:HGNC:29944, ModBase:Q9P273, NCBI Gene:55714, OMIM:610083, RefSeq DNA:NT_016354, RefSeq Protein:NP_001073946, RefSeq RNA:NM_001080477, UniProtKB:Q9P273 No chr4 183065112 183724177 181447613 182803024 +PA134896466 26011 HGNC:29945 ENSG00000149256 teneurin transmembrane protein 4 TENM4 downstream of CHOP 4 DOC4, KIAA1302, ODZ4, TEN4, Ten-M4 Yes Yes Ensembl:ENSG00000149256, GeneCard:ODZ4, HGNC:HGNC:29945, ModBase:Q6N022, NCBI Gene:26011, OMIM:610084, RefSeq DNA:NT_167190, RefSeq Protein:NP_001092286, RefSeq RNA:NM_001098816, UniProtKB:Q6N022 No chr11 78364328 79152014 78653283 79441019 +PA134918975 167153 HGNC:26776 ENSG00000164329 terminal nucleotidyltransferase 2 TENT2 PAP associated domain containing 4, TUTase2 FLJ38499, GLD2, PAPD4, TUT2 Yes No Comparative Toxicogenomics Database:167153, Ensembl:ENSG00000164329, GeneCard:PAPD4, HGNC:HGNC:26776, HumanCyc Gene:HS09062, ModBase:Q6PIY7, NCBI Gene:167153, RefSeq DNA:NT_006713, RefSeq Protein:NP_001107865, RefSeq Protein:NP_001107866, RefSeq Protein:NP_776158, RefSeq RNA:NM_001114393, RefSeq RNA:NM_001114394, RefSeq RNA:NM_173797, UniProtKB:Q6PIY7 No chr5 78908243 78982471 79612416 79686648 +PA33523 11044 HGNC:16705 ENSG00000112941 terminal nucleotidyltransferase 4A TENT4A DNA polymerase kappa, PAP associated domain containing 7, TUTase5, polymerase (DNA-directed) sigma, topoisomerase-related function protein 4-1 LAK-1, PAPD7, POLK, POLS, TRF4, TRF4-1 Yes Yes Ensembl:ENSG00000112941, GenAtlas:POLS, GeneCard:PAPD7, GeneCard:POLS, HGNC:HGNC:16705, HumanCyc Gene:HS03632, ModBase:Q5XG87, NCBI Gene:11044, OMIM:605198, RefSeq DNA:NT_006576, RefSeq Protein:NP_001165276, RefSeq Protein:NP_001165277, RefSeq Protein:NP_008930, RefSeq RNA:NM_001171805, RefSeq RNA:NM_001171806, RefSeq RNA:NM_006999, UCSC Genome Browser:NM_006999, UniProtKB:B4E0T3, UniProtKB:B7ZLL4, UniProtKB:Q5XG87 No chr5 6714076 6757161 6713952 6757048 +PA134949693 64282 HGNC:30758 ENSG00000121274 terminal nucleotidyltransferase 4B TENT4B PAP associated domain containing 5, TUTase3 PAPD5, TRF4-2, TUT3 Yes No Ensembl:ENSG00000121274, GeneCard:PAPD5, HGNC:HGNC:30758, ModBase:Q8NDF8, NCBI Gene:64282, OMIM:605540, RefSeq DNA:NT_010498, RefSeq Protein:NP_001035374, RefSeq Protein:NP_001035375, RefSeq RNA:NM_001040284, RefSeq RNA:NM_001040285, UniProtKB:B4DV38, UniProtKB:Q8NDF8 No chr16 50186829 50269221 50152918 50235310 +PA38531 55603 HGNC:18345 ENSG00000112773 terminal nucleotidyltransferase 5A TENT5A family with sequence similarity 46, member A C6orf37, FAM46A, FLJ20037 Yes No Ensembl:ENSG00000112773, GenAtlas:FAM46A, GeneCard:FAM46A, HGNC:HGNC:18345, HumanCyc Gene:HS12781, ModBase:Q96IP4, NCBI Gene:55603, OMIM:611357, RefSeq DNA:NT_007299, RefSeq Protein:NP_060103, RefSeq RNA:NM_017633, UCSC Genome Browser:NM_017633, UniProtKB:Q96IP4 No chr6 82366829 82462607 81745730 81752711 +PA134962922 115572 HGNC:28273 ENSG00000158246 terminal nucleotidyltransferase 5B TENT5B family with sequence similarity 46, member B FAM46B, MGC16491 Yes No Ensembl:ENSG00000158246, GeneCard:FAM46B, HGNC:HGNC:28273, HumanCyc Gene:HS14707, ModBase:Q96A09, NCBI Gene:115572, RefSeq DNA:NT_004610, RefSeq Protein:NP_443175, RefSeq RNA:NM_052943, UniProtKB:Q96A09 No chr1 27331511 27339333 27005020 27012842 +PA134955264 54855 HGNC:24712 ENSG00000183508 terminal nucleotidyltransferase 5C TENT5C family with sequence similarity 46, member C FAM46C, FLJ20202 Yes No Comparative Toxicogenomics Database:54855, Ensembl:ENSG00000183508, GeneCard:FAM46C, HGNC:HGNC:24712, ModBase:Q5VWP2, NCBI Gene:54855, RefSeq DNA:NT_032977, RefSeq Protein:NP_060179, RefSeq RNA:NM_017709, UniProtKB:Q5VWP2 No chr1 118148604 118171011 117605982 117628389 +PA134947605 169966 HGNC:28399 ENSG00000174016 terminal nucleotidyltransferase 5D TENT5D """cancer/testis antigen 112"", ""family with sequence similarity 46, member D""" CT1.26, CT112, FAM46D, MGC26999 Yes No Ensembl:ENSG00000174016, GeneCard:FAM46D, HGNC:HGNC:28399, HumanCyc Gene:HS16287, ModBase:Q8NEK8, NCBI Gene:169966, RefSeq DNA:NG_016384, RefSeq DNA:NT_011651, RefSeq Protein:NP_001164045, RefSeq Protein:NP_689843, RefSeq RNA:NM_001170574, RefSeq RNA:NM_152630, UniProtKB:B2R9Q6, UniProtKB:Q8NEK8 No chrX 79591003 79700810 80335504 80445311 +PA36443 7011 HGNC:11726 ENSG00000129566 telomerase associated protein 1 TEP1 """TROVE domain family, member 1"", ""telomerase-associated protein 1""" TLP1, TP1, TROVE1, VAULT2, p240 Yes No Comparative Toxicogenomics Database:7011, Ensembl:ENSG00000129566, GenAtlas:TEP1, GeneCard:TEP1, HGNC:HGNC:11726, HumanCyc Gene:HS05296, ModBase:Q99973, NCBI Gene:7011, OMIM:601686, RefSeq DNA:NT_026437, RefSeq Protein:NP_009041, RefSeq RNA:NM_007110, UCSC Genome Browser:NM_007110, UniProtKB:Q99973 No chr14 20833826 20882331 20365667 20413540 +PA142672239 146705 HGNC:26458 ENSG00000167302 TEPSIN adaptor related protein complex 4 accessory protein TEPSIN """AP-4 accessory protein"", ""ENTH domain containing 2"", ""TEPSIN, adaptor related protein complex 4 accessory protein""" C17orf56, ENTHD2, FLJ31528 Yes No Ensembl:ENSG00000167302, GeneCard:C17orf56, HGNC:HGNC:26458, HumanCyc Gene:HS15544, ModBase:Q96N21, NCBI Gene:146705, RefSeq DNA:NT_010783, RefSeq Protein:NP_653280, RefSeq RNA:NM_144679, UniProtKB:Q96N21 No chr17 79202072 79212891 81228277 81239092 +PA162381709 283847 HGNC:26675 ENSG00000249961 telomere repeat binding bouquet formation protein 1 TERB1 coiled-coil domain containing 79 CCDC79, FLJ35894 Yes No Ensembl:ENSG00000249961, GeneCard:CCDC79, HGNC:HGNC:26675, HumanCyc Gene:HS16862, NCBI Gene:283847, RefSeq DNA:NT_010498, RefSeq Protein:NP_001129977, RefSeq RNA:NM_001136505 No chr16 66788879 66835523 66754410 66802801 +PA143485393 145645 HGNC:28520 ENSG00000167014 telomere repeat binding bouquet formation protein 2 TERB2 chromosome 15 open reading frame 43 C15orf43, MGC33951 Yes No Ensembl:ENSG00000167014, GeneCard:C15orf43, HGNC:HGNC:28520, HumanCyc Gene:HS15511, NCBI Gene:145645, RefSeq DNA:NT_010194, RefSeq Protein:NP_689661, RefSeq RNA:NM_152448, UniProtKB:Q8NHR7 No chr15 45248900 45271421 44956674 44979223 +PA36444 7012 HGNC:11727 ENSG00000270141 telomerase RNA component TERC small Cajal body-specific RNA 19 SCARNA19, TR, TRC3, hTR Yes No Comparative Toxicogenomics Database:7012, Ensembl:ENSG00000270141, GenAtlas:TERC, GeneCard:TERC, HGNC:HGNC:11727, HumanCyc Gene:HS11826, NCBI Gene:7012, OMIM:127550, OMIM:178500, OMIM:602322, OMIM:609135, RefSeq DNA:NG_016363, RefSeq DNA:NT_005612, RefSeq RNA:NR_001566 No chr3 169482398 169482848 169764610 169765060 +PA36445 7013 HGNC:11728 ENSG00000147601 telomeric repeat binding factor 1 TERF1 telomeric repeat binding factor (NIMA-interacting) 1 PIN2, TRBF1, TRF, TRF1 Yes No Comparative Toxicogenomics Database:7013, Ensembl:ENSG00000147601, GenAtlas:TERF1, GeneCard:TERF1, HGNC:HGNC:11728, HumanCyc Gene:HS07454, ModBase:P54274, NCBI Gene:7013, OMIM:600951, RefSeq DNA:NT_008183, RefSeq Protein:NP_003209, RefSeq Protein:NP_059523, RefSeq RNA:NM_003218, RefSeq RNA:NM_017489, UCSC Genome Browser:NM_003218, UniProtKB:P54274 No chr8 73921097 73959987 73008862 73047752 +PA134958916 348567 HGNC:16733 ENSG00000173231 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 1 TERF1P1 Yes No Ensembl:ENSG00000173231, HGNC:HGNC:16733, NCBI Gene:348567, RefSeq DNA:NG_003158, RefSeq DNA:NT_011512 No chr21 15148407 15151133 13776086 13778812 +PA36446 7014 HGNC:11729 ENSG00000132604 telomeric repeat binding factor 2 TERF2 TRBF2, TRF2 Yes No Comparative Toxicogenomics Database:7014, Ensembl:ENSG00000132604, GenAtlas:TERF2, GeneCard:TERF2, HGNC:HGNC:11729, HumanCyc Gene:HS05661, ModBase:Q15554, NCBI Gene:7014, OMIM:602027, RefSeq DNA:NT_010498, RefSeq Protein:NP_005643, RefSeq RNA:NM_005652, UCSC Genome Browser:NM_005652, UniProtKB:Q15554 No chr16 69389464 69419891 69355561 69386004 +PA134976325 54386 HGNC:19246 ENSG00000166848 TERF2 interacting protein TERF2IP telomeric repeat binding factor 2, interacting protein RAP1 Yes No Ensembl:ENSG00000166848, GeneCard:TERF2IP, HGNC:HGNC:19246, HumanCyc Gene:HS09460, ModBase:Q9NYB0, NCBI Gene:54386, OMIM:605061, RefSeq DNA:NT_010498, RefSeq Protein:NP_061848, RefSeq RNA:NM_018975, UniProtKB:Q4W4Y2, UniProtKB:Q9NYB0 No chr16 75681602 75691340 75647704 75657442 +PA134888049 644899 HGNC:19258 telomeric repeat binding factor 2, interacting protein pseudogene 1 TERF2IPP1 Yes No GeneCard:TERF2IPP1, HGNC:HGNC:19258, NCBI Gene:644899, RefSeq DNA:NG_017137, RefSeq DNA:NT_011519 No chr22 17897692 17899725 17418941 17420678 +PA36447 7015 HGNC:11730 ENSG00000164362 telomerase reverse transcriptase TERT EST2, TCS1, TP2, TRT, hEST2 Yes No Comparative Toxicogenomics Database:7015, Ensembl:ENSG00000164362, GenAtlas:TERT, GeneCard:TERT, HGNC:HGNC:11730, HumanCyc Gene:HS09070, ModBase:O14746, NCBI Gene:7015, OMIM:127550, OMIM:178500, OMIM:187270, OMIM:609135, RefSeq DNA:NG_009265, RefSeq DNA:NT_006576, RefSeq Protein:NP_001180305, RefSeq Protein:NP_937983, RefSeq Protein:NP_937986, RefSeq RNA:NM_001193376, RefSeq RNA:NM_198253, RefSeq RNA:NM_198255, UCSC Genome Browser:NM_003219, UniProtKB:O14746, UniProtKB:Q8NG38 No chr5 1253282 1295178 1253167 1295626 +PA37906 26136 HGNC:14620 ENSG00000135269 testin LIM domain protein TES testis derived transcript (3 LIM domains) DKFZP586B2022, TESS-2, TESTIN Yes No Comparative Toxicogenomics Database:26136, Ensembl:ENSG00000135269, GenAtlas:TES, GeneCard:TES, HGNC:HGNC:14620, HumanCyc Gene:HS13569, ModBase:Q9UGI8, NCBI Gene:26136, OMIM:606085, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_056456, RefSeq Protein:NP_690042, RefSeq RNA:NM_015641, RefSeq RNA:NM_152829, UCSC Genome Browser:NM_015641, UniProtKB:A4D0U5, UniProtKB:Q9UGI8 No chr7 115850547 115898840 116210493 116258786 +PA143485630 54997 HGNC:26065 ENSG00000088992 tescalcin TESC calcineurin-like EF hand protein 3 CHP3, FLJ20607, TSC Yes No Ensembl:ENSG00000088992, GeneCard:TESC, HGNC:HGNC:26065, HumanCyc Gene:HS01621, ModBase:Q96BS2, NCBI Gene:54997, OMIM:611585, RefSeq DNA:NT_009775, RefSeq Protein:NP_001161797, RefSeq Protein:NP_060369, RefSeq RNA:NM_001168325, RefSeq RNA:NM_017899, RefSeq RNA:NR_031766, UniProtKB:Q96BS2 No chr12 117476728 117537251 117038923 117099490 +PA36448 7016 HGNC:11731 ENSG00000107140 testis associated actin remodelling kinase 1 TESK1 testis specific kinase-1, testis-specific kinase 1, testis-specific kinase-1 Yes No Ensembl:ENSG00000107140, GenAtlas:TESK1, GeneCard:TESK1, HGNC:HGNC:11731, HumanCyc Gene:HS02972, ModBase:Q15569, NCBI Gene:7016, OMIM:601782, RefSeq DNA:NT_008413, RefSeq Protein:NP_006276, RefSeq RNA:NM_006285, UCSC Genome Browser:NM_006285, UniProtKB:Q15569 No chr9 35605281 35610038 35605284 35610041 +PA36449 10420 HGNC:11732 ENSG00000070759 testis associated actin remodelling kinase 2 TESK2 testis-specific kinase 2 Yes No Comparative Toxicogenomics Database:10420, Ensembl:ENSG00000070759, GenAtlas:TESK2, GeneCard:TESK2, HGNC:HGNC:11732, HumanCyc Gene:HS01008, ModBase:Q96S53, NCBI Gene:10420, OMIM:604746, RefSeq DNA:NT_032977, RefSeq Protein:NP_009101, RefSeq RNA:NM_007170, UCSC Genome Browser:NM_007170, UniProtKB:Q5T422, UniProtKB:Q96S53 No chr1 45809555 45956840 45343883 45491342 +PA31249 9633 HGNC:7446 ENSG00000132749 testis expressed metallothionein like protein TESMIN """CXC domain containing 2"", ""metallothionein-like 5, testis-specific (tesmin)""" CXCDC2, MTL5 Yes No Ensembl:ENSG00000132749, GenAtlas:MTL5, GeneCard:MTL5, HGNC:HGNC:7446, HumanCyc Gene:HS05687, ModBase:Q9Y4I5, NCBI Gene:9633, OMIM:604374, RefSeq DNA:NT_167190, RefSeq Protein:NP_001034745, RefSeq Protein:NP_004914, RefSeq RNA:NM_001039656, RefSeq RNA:NM_004923, UCSC Genome Browser:NM_004923, UniProtKB:Q9Y4I5 No chr11 68474908 68518988 68706674 68751564 +PA128394561 9840 HGNC:29109 ENSG00000135426 thymocyte expressed, positive selection associated 1 TESPA1 ITPRID3, KIAA0748 Yes No Ensembl:ENSG00000135426, GeneCard:KIAA0748, HGNC:HGNC:29109, HumanCyc Gene:HS13580, ModBase:A2RU30, NCBI Gene:9840, RefSeq DNA:NT_029419, RefSeq Protein:NP_001092285, RefSeq Protein:NP_001129502, RefSeq RNA:NM_001098815, RefSeq RNA:NM_001136030, UCSC Genome Browser:NM_014796, UniProtKB:A2RU30 No chr12 55342087 55378965 54948019 54984754 +PA162405605 80312 HGNC:29484 ENSG00000138336 tet methylcytosine dioxygenase 1 TET1 leukemia-associated protein with a CXXC domain, ten-eleven translocation 1, ten-eleven translocation-1 CXXC6, KIAA1676, LCX, bA119F7.1 Yes No Ensembl:ENSG00000138336, GeneCard:TET1, HGNC:HGNC:29484, ModBase:Q8NFU7, NCBI Gene:80312, OMIM:607790, RefSeq DNA:NT_030059, RefSeq Protein:NP_085128, RefSeq RNA:NM_030625, UniProtKB:Q8NFU7 No chr10 70320117 70454239 68560360 68700794 +PA162405634 54790 HGNC:25941 ENSG00000168769 tet methylcytosine dioxygenase 2 TET2 ten-eleven translocation 2 FLJ20032, KIAA1546 Yes Yes Ensembl:ENSG00000168769, GeneCard:TET2, HGNC:HGNC:25941, NCBI Gene:54790, OMIM:612839, RefSeq DNA:NT_016354, RefSeq Protein:NP_001120680, RefSeq Protein:NP_060098, RefSeq RNA:NM_001127208, RefSeq RNA:NM_017628, UniProtKB:A7E237, UniProtKB:B5MDM3, UniProtKB:Q6N021 No chr4 106067032 106200960 105145875 105279803 +PA162405645 200424 HGNC:28313 ENSG00000187605 tet methylcytosine dioxygenase 3 TET3 ten-eleven translocation 3 MGC22014, hCG_40738 Yes No Ensembl:ENSG00000187605, GeneCard:TET3, HGNC:HGNC:28313, ModBase:O43151, NCBI Gene:200424, RefSeq DNA:NT_022184, RefSeq Protein:NP_659430, RefSeq RNA:NM_144993, UniProtKB:O43151 No chr2 74212211 74335303 73982036 74108176 +PA134991964 54881 HGNC:25988 ENSG00000136891 testis expressed 10 TEX10 FLJ20287, Ipi1, bA208F1.2 Yes Yes Comparative Toxicogenomics Database:54881, Ensembl:ENSG00000136891, GeneCard:TEX10, HGNC:HGNC:25988, HumanCyc Gene:HS13645, ModBase:Q9NXF1, NCBI Gene:54881, RefSeq DNA:NT_008470, RefSeq Protein:NP_001155056, RefSeq Protein:NP_060216, RefSeq RNA:NM_001161584, RefSeq RNA:NM_017746, UniProtKB:B4DYV2, UniProtKB:Q9NXF1 No chr9 103064357 103115856 100302075 100352977 +PA134938764 83639 HGNC:30722 ENSG00000131126 testis expressed 101 TEX101 TES101-reactive protein, cancer/testis antigen 131, spermatogenesis associated 44 CT131, MGC4766, SGRG, SPATA44, TES101RP Yes No Comparative Toxicogenomics Database:83639, Ensembl:ENSG00000131126, GeneCard:TEX101, HGNC:HGNC:30722, HumanCyc Gene:HS05491, NCBI Gene:83639, OMIM:612665, RefSeq DNA:NT_011109, RefSeq Protein:NP_001123483, RefSeq Protein:NP_113639, RefSeq RNA:NM_001130011, RefSeq RNA:NM_031451, UniProtKB:Q9BY14 No chr19 43892763 43922767 43388611 43418615 +PA36450 56159 HGNC:11733 ENSG00000120498 testis expressed 11 TEX11 ZIP4 homolog (S. cerevisiae) MZIP4, Spo22, TGC1, TSGA3, ZIP4, ZIP4H Yes No Ensembl:ENSG00000120498, GenAtlas:TEX11, GeneCard:TEX11, HGNC:HGNC:11733, HumanCyc Gene:HS12990, ModBase:Q8IYF3, NCBI Gene:56159, OMIM:300311, RefSeq DNA:NG_012574, RefSeq DNA:NT_011669, RefSeq Protein:NP_001003811, RefSeq Protein:NP_112566, RefSeq RNA:NM_001003811, RefSeq RNA:NM_031276, UCSC Genome Browser:NM_031276, UniProtKB:Q8IYF3 No chrX 69748790 70128567 70511227 70908717 +PA36451 56158 HGNC:11734 ENSG00000150783 testis expressed 12 TEX12 Yes No Comparative Toxicogenomics Database:56158, Ensembl:ENSG00000150783, GenAtlas:TEX12, GeneCard:TEX12, HGNC:HGNC:11734, HumanCyc Gene:HS14341, NCBI Gene:56158, OMIM:605791, RefSeq DNA:NT_033899, RefSeq Protein:NP_112565, RefSeq RNA:NM_031275, UCSC Genome Browser:NM_031275, UniProtKB:Q9BXU0 No chr11 112004926 112043279 112167372 112172556 +PA36452 56157 HGNC:11735 ENSG00000268629 testis expressed 13A TEX13A Yes No Ensembl:ENSG00000268629, GenAtlas:TEX13A, GeneCard:TEX13A, HGNC:HGNC:11735, HumanCyc Gene:HS13465, ModBase:Q9BXU3, NCBI Gene:56157, OMIM:300312, RefSeq DNA:NG_016253, RefSeq DNA:NT_011651, RefSeq Protein:NP_112564, RefSeq RNA:NM_031274, UCSC Genome Browser:NM_031274, UniProtKB:Q9BXU3 No chrX 104463611 104465358 105218929 105220693 +PA36453 56156 HGNC:11736 ENSG00000170925 testis expressed 13B TEX13B TGC3B, TSGA5 Yes No Ensembl:ENSG00000170925, GenAtlas:TEX13B, GeneCard:TEX13B, HGNC:HGNC:11736, HumanCyc Gene:HS15934, NCBI Gene:56156, OMIM:300313, RefSeq DNA:NG_015975, RefSeq DNA:NT_011651, RefSeq Protein:NP_112563, RefSeq RNA:NM_031273, UCSC Genome Browser:NM_031273, UniProtKB:Q9BXU2 No chrX 107224094 107225600 107980864 107982370 +PA166181662 100129520 HGNC:52277 ENSG00000282815 TEX13 family member C TEX13C Yes No Ensembl:ENSG00000282815, HGNC:HGNC:52277, NCBI Gene:100129520 No 0 0 0 0 +PA166181663 100132015 HGNC:52278 ENSG00000282419 TEX13 family member D TEX13D Yes No Ensembl:ENSG00000282419, HGNC:HGNC:52278, NCBI Gene:100132015 No 0 0 0 0 +PA36454 56155 HGNC:11737 ENSG00000121101 testis expressed 14, intercellular bridge forming factor TEX14 Inactive serine/threonine-protein kinase TEX14, cancer/testis antigen 113, testis expressed 14 CT113, SgK307 Yes No Ensembl:ENSG00000121101, GenAtlas:TEX14, GeneCard:TEX14, HGNC:HGNC:11737, HumanCyc Gene:HS04473, NCBI Gene:56155, OMIM:605792, RefSeq DNA:NT_010783, RefSeq Protein:NP_001188386, RefSeq Protein:NP_112562, RefSeq Protein:NP_938207, RefSeq RNA:NM_001201457, RefSeq RNA:NM_031272, RefSeq RNA:NM_198393, UCSC Genome Browser:NM_031272, UniProtKB:Q8IWB6 No chr17 56634038 56769416 58556677 58692055 +PA36455 56154 HGNC:11738 ENSG00000133863 testis expressed 15, meiosis and synapsis associated TEX15 cancer/testis antigen 42, testis expressed 15 CT42 Yes No Ensembl:ENSG00000133863, GenAtlas:TEX15, GeneCard:TEX15, HGNC:HGNC:11738, HumanCyc Gene:HS13497, NCBI Gene:56154, OMIM:605795, RefSeq DNA:NT_167187, RefSeq Protein:NP_112561, RefSeq RNA:NM_031271, UCSC Genome Browser:NM_031271, UniProtKB:Q9BXT5 No chr8 30688939 30770512 30831544 30913012 +PA165433159 400629 HGNC:33802 ENSG00000182459 testis expressed 19 TEX19 FLJ35767 Yes No Ensembl:ENSG00000182459, GeneCard:TEX19, HGNC:HGNC:33802, NCBI Gene:400629, RefSeq DNA:NT_010663, RefSeq Protein:NP_997342, RefSeq RNA:NM_207459, UniProtKB:Q8NA77 No chr17 80317123 80321652 82359247 82363776 +PA142670820 55852 HGNC:30884 ENSG00000136478 testis expressed 2 TEX2 transmembrane protein 96 HT008, KIAA1738, TMEM96 Yes No Ensembl:ENSG00000136478, GeneCard:TEX2, HGNC:HGNC:30884, NCBI Gene:55852, RefSeq DNA:NT_010783, RefSeq Protein:NP_060939, RefSeq RNA:NM_018469, UniProtKB:Q8IWB9 No chr17 62224795 62340653 64147433 64263323 +PA166049048 647310 HGNC:40026 ENSG00000226174 testis expressed 22 TEX22 Yes No Ensembl:ENSG00000226174, HGNC:HGNC:40026, NCBI Gene:647310 No chr14 105864920 105880196 105398499 105413859 +PA144596482 122046 HGNC:28622 ENSG00000175664 testis expressed 26 TEX26 C13orf26, MGC40178 Yes No Ensembl:ENSG00000175664, GeneCard:C13orf26, HGNC:HGNC:28622, HumanCyc Gene:HS16484, NCBI Gene:122046, RefSeq DNA:NT_024524, RefSeq Protein:NP_689538, RefSeq RNA:NM_152325, UniProtKB:Q8N6G2 No chr13 31506834 31549639 30932633 30975502 +PA134885680 113419 HGNC:30712 ENSG00000144043 testis expressed 261 TEX261 MGC32043, TEG-261 Yes No Comparative Toxicogenomics Database:113419, Ensembl:ENSG00000144043, GeneCard:TEX261, HGNC:HGNC:30712, HumanCyc Gene:HS14002, ModBase:Q6UWH6, NCBI Gene:113419, RefSeq DNA:NT_022184, RefSeq Protein:NP_653183, RefSeq RNA:NM_144582, UniProtKB:Q6UWH6 No chr2 71213068 71222001 70985938 70994871 +PA134875244 51368 HGNC:30247 ENSG00000164081 testis expressed 264, ER-phagy receptor TEX264 testis expressed 264 FLJ13935, ZSIG11 Yes No Ensembl:ENSG00000164081, GeneCard:TEX264, HGNC:HGNC:30247, HumanCyc Gene:HS15146, ModBase:Q9Y6I9, NCBI Gene:51368, RefSeq DNA:NT_022517, RefSeq Protein:NP_001123356, RefSeq Protein:NP_057010, RefSeq RNA:NM_001129884, RefSeq RNA:NM_015926, RefSeq RNA:NR_024012, UniProtKB:Q53GI2, UniProtKB:Q9Y6I9 No chr3 51705191 51738339 51671175 51704323 +PA162405646 1527 HGNC:2563 ENSG00000278057 testis expressed 28 TEX28 CXorf2, fTEX Yes No Ensembl:ENSG00000278057, GeneCard:TEX28, HGNC:HGNC:2563, HumanCyc Gene:HS02348, ModBase:O15482, NCBI Gene:1527, OMIM:300092, RefSeq DNA:NT_167198, RefSeq Protein:NP_001192130, RefSeq Protein:NP_001577, RefSeq RNA:NM_001205201, RefSeq RNA:NM_001586, UniProtKB:O15482 No chrX 153498930 153523564 154271265 154295356 +PA134935852 121793 HGNC:20370 ENSG00000153495 testis expressed 29 TEX29 C13orf16, MGC35169, bA474D23.1 Yes No Ensembl:ENSG00000153495, GeneCard:C13orf16, HGNC:HGNC:20370, HumanCyc Gene:HS14474, NCBI Gene:121793, RefSeq DNA:NT_009952, RefSeq Protein:NP_689537, RefSeq RNA:NM_152324, UniProtKB:Q8N6K0 No chr13 111973015 111996594 111305838 111344248 +PA147358470 93081 HGNC:25188 ENSG00000151287 testis expressed 30 TEX30 C13orf27 Yes No Ensembl:ENSG00000151287, GeneCard:C13orf27, HGNC:HGNC:25188, HumanCyc Gene:HS07720, NCBI Gene:93081, RefSeq DNA:NT_009952, RefSeq Protein:NP_620134, RefSeq RNA:NM_138779, UniProtKB:Q5JUR7 No chr13 103418460 103426168 102765888 102773821 +PA134904440 84066 HGNC:25366 ENSG00000240021 testis expressed 35 TEX35 Testis-Specific Conserved gene 24kDa C1orf49, DKFZP564J047, TSC24 Yes No Ensembl:ENSG00000240021, GeneCard:C1orf49, HGNC:HGNC:25366, NCBI Gene:84066, RefSeq DNA:NT_004487, RefSeq Protein:NP_001164193, RefSeq Protein:NP_001164194, RefSeq Protein:NP_001164195, RefSeq Protein:NP_115502, RefSeq RNA:NM_001170722, RefSeq RNA:NM_001170723, RefSeq RNA:NM_001170724, RefSeq RNA:NM_032126, UniProtKB:Q5T0J7, UniProtKB:Q5T0J8 No chr1 178482212 178492635 178513077 178523500 +PA134969142 387718 HGNC:31653 ENSG00000175018 testis expressed 36 TEX36 C10orf122, bA383C5.1 Yes No Ensembl:ENSG00000175018, GeneCard:C10orf122, HGNC:HGNC:31653, NCBI Gene:387718, RefSeq DNA:NT_030059, RefSeq Protein:NP_001121674, RefSeq RNA:NM_001128202, UniProtKB:Q5VZQ5 No chr10 127265091 127371735 125576522 125683144 +PA162378937 374973 HGNC:29589 ENSG00000186118 testis expressed 38 TEX38 testis highly expressed protein 4 ATPAF1-AS1, C1orf223, LOC374973, THEG4 Yes No Ensembl:ENSG00000186118, GeneCard:C1orf223, HGNC:HGNC:29589, NCBI Gene:374973, RefSeq DNA:NT_032977, RefSeq Protein:NP_001138946, RefSeq RNA:NM_001145474, UniProtKB:Q6PEX7 No chr1 47137497 47139266 46669344 46673603 +PA162379291 165100 HGNC:28563 ENSG00000177673 testis expressed 44 TEX44 chromosome 2 open reading frame 57 C2orf57, MGC35154 Yes No Ensembl:ENSG00000177673, GeneCard:C2orf57, HGNC:HGNC:28563, HumanCyc Gene:HS16897, NCBI Gene:165100, RefSeq DNA:NT_005403, RefSeq Protein:NP_689827, RefSeq RNA:NM_152614, UniProtKB:Q53QW1 No chr2 232457575 232458994 231592864 231594283 +PA166123666 729059 HGNC:44651 ENSG00000227868 testis expressed 46 TEX46 chromosome 1 open reading frame 234 C1orf234 Yes No Ensembl:ENSG00000227868, HGNC:HGNC:44651, NCBI Gene:729059 No chr1 +PA162380726 219557 HGNC:22402 ENSG00000164645 testis expressed 47 TEX47 chromosome 7 open reading frame 62, dynein-associated BLUF protein C7orf62, DYBLUF, MGC26647 Yes No Ensembl:ENSG00000164645, GeneCard:C7orf62, HGNC:HGNC:22402, HumanCyc Gene:HS15222, ModBase:Q8TBZ9, NCBI Gene:219557, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_689919, RefSeq RNA:NM_152706, UniProtKB:Q8TBZ9 No chr7 88423420 88425031 88794106 88797937 +PA166181664 100505478 HGNC:52393 ENSG00000230601 testis expressed 48 TEX48 Yes No Ensembl:ENSG00000230601, HGNC:HGNC:52393, NCBI Gene:100505478 No 0 0 0 0 +PA166181666 730159 HGNC:52382 ENSG00000232113 testis expressed 50 TEX50 Yes No Ensembl:ENSG00000232113, HGNC:HGNC:52382, NCBI Gene:730159 No 0 0 0 0 +PA166181667 101929926 HGNC:52387 ENSG00000237524 testis expressed 51 TEX51 Yes No Ensembl:ENSG00000237524, HGNC:HGNC:52387, NCBI Gene:101929926 No 0 0 0 0 +PA166181668 101929469 HGNC:53643 ENSG00000283297 testis expressed 52 TEX52 Yes No Ensembl:ENSG00000283297, HGNC:HGNC:53643, NCBI Gene:101929469 No 0 0 0 0 +PA166181669 105376230 HGNC:53655 ENSG00000230054 testis expressed 53 TEX53 Yes No Ensembl:ENSG00000230054, HGNC:HGNC:53655, NCBI Gene:105376230 No 0 0 0 0 +PA166181670 111216277 HGNC:53729 ENSG00000283268 testis expressed 54 TEX54 Yes No Ensembl:ENSG00000283268, HGNC:HGNC:53729, NCBI Gene:111216277 No 0 0 0 0 +PA142672391 152405 HGNC:26553 ENSG00000163424 testis expressed 55 TEX55 """Testis-specific conserved, cAMP-dependent type II PK anchoring protein"", ""chromosome 3 open reading frame 30""" C3orf30, FLJ32859, TSCPA Yes No Ensembl:ENSG00000163424, GeneCard:C3orf30, HGNC:HGNC:26553, HumanCyc Gene:HS15059, ModBase:Q96M34, NCBI Gene:152405, RefSeq DNA:NT_005612, RefSeq Protein:NP_689752, RefSeq RNA:NM_152539, UniProtKB:Q96M34 No chr3 118864997 118879674 119146150 119151455 +PA142670821 374618 HGNC:29585 ENSG00000151575 testis expressed 9 TEX9 Yes No Ensembl:ENSG00000151575, GeneCard:TEX9, HGNC:HGNC:29585, ModBase:Q8N6V9, NCBI Gene:374618, RefSeq DNA:NT_010194, RefSeq Protein:NP_940926, RefSeq RNA:NM_198524, UniProtKB:Q8N6V9 No chr15 56536207 56739032 56243971 56445997 +PA36457 7018 HGNC:11740 ENSG00000091513 transferrin TF serotransferrin PRO1557, PRO2086 Yes Yes Comparative Toxicogenomics Database:7018, Ensembl:ENSG00000091513, GenAtlas:TF, GeneCard:TF, HGNC:HGNC:11740, HumanCyc Gene:HS01736, ModBase:P02787, NCBI Gene:7018, OMIM:190000, OMIM:209300, RefSeq DNA:NG_013080, RefSeq DNA:NT_005612, RefSeq Protein:NP_001054, RefSeq RNA:NM_001063, UCSC Genome Browser:NM_001063, UniProtKB:A0PJA6, UniProtKB:P02787, UniProtKB:Q06AH7 No chr3 133464977 133497850 133661998 133779006 +PA36458 7019 HGNC:11741 ENSG00000108064 transcription factor A, mitochondrial TFAM TCF6, TCF6L2 Yes No Comparative Toxicogenomics Database:7019, Ensembl:ENSG00000108064, GenAtlas:TFAM, GeneCard:TFAM, HGNC:HGNC:11741, ModBase:Q00059, NCBI Gene:7019, OMIM:600438, RefSeq DNA:NT_030059, RefSeq Protein:NP_003192, RefSeq RNA:NM_003201, UCSC Genome Browser:NM_003201, UniProtKB:Q00059 No chr10 60144903 60158990 58385143 58399230 +PA36459 7020 HGNC:11742 ENSG00000137203 transcription factor AP-2 alpha TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) AP-2, AP-2alpha, AP2TF, TFAP2 Yes No Comparative Toxicogenomics Database:7020, Ensembl:ENSG00000137203, GenAtlas:TFAP2A, GeneCard:TFAP2A, HGNC:HGNC:11742, HumanCyc Gene:HS06291, ModBase:P05549, NCBI Gene:7020, OMIM:107580, OMIM:113620, RefSeq DNA:NG_016151, RefSeq DNA:NT_007592, RefSeq Protein:NP_001027451, RefSeq Protein:NP_001035890, RefSeq Protein:NP_003211, RefSeq RNA:NM_001032280, RefSeq RNA:NM_001042425, RefSeq RNA:NM_003220, UCSC Genome Browser:NM_003220, UniProtKB:P05549, UniProtKB:Q5TAV5, UniProtKB:Q8N1C6 No chr6 10393419 10419797 10396677 10419897 +PA36460 7021 HGNC:11743 ENSG00000008196 transcription factor AP-2 beta TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) AP-2beta, AP2-B Yes Yes Comparative Toxicogenomics Database:7021, Ensembl:ENSG00000008196, GenAtlas:TFAP2B, GeneCard:TFAP2B, HGNC:HGNC:11743, HumanCyc Gene:HS00235, ModBase:Q92481, NCBI Gene:7021, OMIM:169100, OMIM:601601, RefSeq DNA:NG_008438, RefSeq DNA:NT_007592, RefSeq Protein:NP_003212, RefSeq RNA:NM_003221, UCSC Genome Browser:NM_003221, UniProtKB:Q92481 No chr6 50786439 50815326 50817692 50847619 +PA36461 7022 HGNC:11744 ENSG00000087510 transcription factor AP-2 gamma TFAP2C estrogen receptor factor 1, transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) AP2-GAMMA, ERF1, TFAP2G, hAP-2g Yes No Comparative Toxicogenomics Database:7022, Ensembl:ENSG00000087510, GenAtlas:TFAP2C, GeneCard:TFAP2C, HGNC:HGNC:11744, HumanCyc Gene:HS01580, ModBase:Q92754, NCBI Gene:7022, OMIM:601602, RefSeq DNA:NT_011362, RefSeq Protein:NP_003213, RefSeq RNA:NM_003222, UCSC Genome Browser:NM_003222, UniProtKB:Q92754 No chr20 55204358 55214339 56629302 56639283 +PA37984 83741 HGNC:15581 ENSG00000008197 transcription factor AP-2 delta TFAP2D transcription factor AP-2 delta (activating enhancer binding protein 2 delta) AP-2delta, TFAP2BL1 Yes No Ensembl:ENSG00000008197, GenAtlas:TFAP2D, GeneCard:TFAP2D, HGNC:HGNC:15581, HumanCyc Gene:HS00236, ModBase:Q7Z6R9, NCBI Gene:83741, OMIM:610161, RefSeq DNA:NT_007592, RefSeq Protein:NP_758438, RefSeq RNA:NM_172238, UCSC Genome Browser:NM_172238, UniProtKB:Q7Z6R9 No chr6 50681257 50740746 50713544 50773033 +PA134992283 339488 HGNC:30774 ENSG00000116819 transcription factor AP-2 epsilon TFAP2E transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) AP-2epsilon, AP2E Yes No Ensembl:ENSG00000116819, GeneCard:TFAP2E, HGNC:HGNC:30774, NCBI Gene:339488, RefSeq DNA:NT_032977, RefSeq Protein:NP_848643, RefSeq RNA:NM_178548, UniProtKB:Q6VUC0 No chr1 36038971 36060929 35571067 35595591 +PA36462 7023 HGNC:11745 ENSG00000090447 transcription factor AP-4 TFAP4 transcription factor AP-4 (activating enhancer binding protein 4) AP-4, bHLHc41 Yes No Comparative Toxicogenomics Database:7023, Ensembl:ENSG00000090447, GenAtlas:TFAP4, GeneCard:TFAP4, HGNC:HGNC:11745, HumanCyc Gene:HS01689, ModBase:Q01664, NCBI Gene:7023, OMIM:600743, RefSeq DNA:NT_010393, RefSeq Protein:NP_003214, RefSeq RNA:NM_003223, UCSC Genome Browser:NM_003223, UniProtKB:Q01664 No chr16 4307187 4323001 4257186 4273000 +PA38198 51106 HGNC:17037 ENSG00000029639 transcription factor B1, mitochondrial TFB1M dimethyladenosine transferase 1, mitochondrial CGI-75, mtTFB Yes No Ensembl:ENSG00000029639, GenAtlas:TFB1M, GeneCard:TFB1M, HGNC:HGNC:17037, HumanCyc Gene:HS00472, ModBase:Q8WVM0, NCBI Gene:51106, OMIM:607033, RefSeq DNA:NT_025741, RefSeq Protein:NP_057104, RefSeq RNA:NM_016020, UCSC Genome Browser:NM_016020, UniProtKB:Q8WVM0 No chr6 155574495 155635631 155229990 155314497 +PA38348 64216 HGNC:18559 ENSG00000162851 transcription factor B2, mitochondrial TFB2M FLJ22661, FLJ23182, Hkp1 Yes No Ensembl:ENSG00000162851, GenAtlas:TFB2M, GeneCard:TFB2M, HGNC:HGNC:18559, HumanCyc Gene:HS14978, ModBase:Q9H5Q4, NCBI Gene:64216, OMIM:607055, RefSeq DNA:NT_167186, RefSeq Protein:NP_071761, RefSeq RNA:NM_022366, UCSC Genome Browser:NM_022366, UniProtKB:Q9H5Q4 No chr1 246703863 246729565 246540561 246566263 +PA36463 7024 HGNC:11748 ENSG00000135457 transcription factor CP2 TFCP2 CP2, LBP-1C, LSF, TFCP2C Yes No Comparative Toxicogenomics Database:7024, Ensembl:ENSG00000135457, GenAtlas:TFCP2, GeneCard:TFCP2, HGNC:HGNC:11748, HumanCyc Gene:HS06012, ModBase:Q12800, NCBI Gene:7024, OMIM:189889, RefSeq DNA:NT_029419, RefSeq Protein:NP_001166923, RefSeq Protein:NP_001166924, RefSeq Protein:NP_005644, RefSeq RNA:NM_001173452, RefSeq RNA:NM_001173453, RefSeq RNA:NM_005653, UCSC Genome Browser:NM_005653, UniProtKB:Q12800 No chr12 51487539 51566926 51093756 51173143 +PA134980544 29842 HGNC:17925 ENSG00000115112 transcription factor CP2 like 1 TFCP2L1 transcription factor CP2-like 1 CRTR1, LBP-9 Yes No Ensembl:ENSG00000115112, GeneCard:TFCP2L1, HGNC:HGNC:17925, HumanCyc Gene:HS03834, ModBase:Q9NZI6, NCBI Gene:29842, OMIM:609785, RefSeq DNA:NT_022135, RefSeq Protein:NP_055368, RefSeq RNA:NM_014553, UniProtKB:Q9NZI6 No chr2 121974163 122042778 121216587 121285210 +PA36464 7027 HGNC:11749 ENSG00000198176 transcription factor Dp-1 TFDP1 down-regulated in liver cancer stem cells DILC, DP1, DRTF1, Dp-1 Yes No Comparative Toxicogenomics Database:7027, Ensembl:ENSG00000198176, GenAtlas:TFDP1, GeneCard:TFDP1, HGNC:HGNC:11749, ModBase:Q14186, NCBI Gene:7027, OMIM:189902, RefSeq DNA:NT_027140, RefSeq Protein:NP_009042, RefSeq RNA:NM_007111, RefSeq RNA:NR_026580, UCSC Genome Browser:NM_007111, UniProtKB:Q14186 No chr13 114239003 114295788 113584688 113641473 +PA36466 7029 HGNC:11751 ENSG00000114126 transcription factor Dp-2 TFDP2 E2F dimerization partner 2, transcription factor Dp-2 (E2F dimerization partner 2) Dp-2 Yes No Comparative Toxicogenomics Database:7029, Ensembl:ENSG00000114126, GenAtlas:TFDP2, GeneCard:TFDP2, HGNC:HGNC:11751, HumanCyc Gene:HS03744, ModBase:Q14188, NCBI Gene:7029, OMIM:602160, RefSeq DNA:NT_005612, RefSeq Protein:NP_001171609, RefSeq Protein:NP_001171610, RefSeq Protein:NP_001171611, RefSeq Protein:NP_001171612, RefSeq Protein:NP_001171613, RefSeq Protein:NP_006277, RefSeq RNA:NM_001178138, RefSeq RNA:NM_001178139, RefSeq RNA:NM_001178140, RefSeq RNA:NM_001178141, RefSeq RNA:NM_001178142, RefSeq RNA:NM_006286, UCSC Genome Browser:NM_006286, UniProtKB:B7Z8L5, UniProtKB:Q14188 No chr3 141663270 141868386 141944428 142149544 +PA134898258 51270 HGNC:24603 ENSG00000183434 transcription factor Dp family member 3 TFDP3 """E2F-like protein"", ""cancer/testis antigen 30"", ""transcription factor Dp family, member 3""" CT30, E2F-like, HCA661 Yes No Ensembl:ENSG00000183434, GeneCard:TFDP3, HGNC:HGNC:24603, ModBase:Q5H9I0, NCBI Gene:51270, OMIM:300772, RefSeq DNA:NG_021355, RefSeq DNA:NT_011786, RefSeq Protein:NP_057605, RefSeq RNA:NM_016521, UniProtKB:Q5H9I0 No chrX 132350697 132352376 133216669 133218348 +PA36467 7030 HGNC:11752 ENSG00000068323 transcription factor binding to IGHM enhancer 3 TFE3 member A, transcription factor E family TFEA, bHLHe33 Yes No Comparative Toxicogenomics Database:7030, Ensembl:ENSG00000068323, GenAtlas:TFE3, GeneCard:TFE3, HGNC:HGNC:11752, HumanCyc Gene:HS00934, ModBase:P19532, NCBI Gene:7030, OMIM:314310, OMIM:605074, RefSeq DNA:NG_016297, RefSeq DNA:NT_079573, RefSeq Protein:NP_006512, RefSeq RNA:NM_006521, UCSC Genome Browser:NM_006521, UniProtKB:B4DIA5, UniProtKB:P19532 No chrX 48886237 48900990 49028726 49043517 +PA36468 7942 HGNC:11753 ENSG00000112561 transcription factor EB TFEB TCFEB, bHLHe35 Yes No Comparative Toxicogenomics Database:7942, Ensembl:ENSG00000112561, GenAtlas:TFEB, GeneCard:TFEB, HGNC:HGNC:11753, HumanCyc Gene:HS03588, ModBase:P19484, NCBI Gene:7942, OMIM:600744, RefSeq DNA:NT_007592, RefSeq Protein:NP_001161299, RefSeq Protein:NP_009093, RefSeq RNA:NM_001167827, RefSeq RNA:NM_007162, UCSC Genome Browser:NM_007162, UniProtKB:P19484 No chr6 41651716 41703997 41683978 41736259 +PA36469 22797 HGNC:11754 ENSG00000105967 transcription factor EC TFEC TCFEC, TFECL, bHLHe34 Yes No Ensembl:ENSG00000105967, GenAtlas:TFEC, GeneCard:TFEC, HGNC:HGNC:11754, HumanCyc Gene:HS02835, ModBase:O14948, NCBI Gene:22797, OMIM:604732, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001018068, RefSeq Protein:NP_036384, RefSeq RNA:NM_001018058, RefSeq RNA:NM_012252, UCSC Genome Browser:NM_012252, UniProtKB:O14948 No chr7 115575202 115799950 115935148 116159891 +PA36470 7031 HGNC:11755 ENSG00000160182 trefoil factor 1 TFF1 BCEI, D21S21, HP1.A, HPS2, pNR-2, pS2 Yes No Comparative Toxicogenomics Database:7031, Ensembl:ENSG00000160182, GenAtlas:TFF1, GeneCard:TFF1, HGNC:HGNC:11755, HumanCyc Gene:HS08452, ModBase:P04155, NCBI Gene:7031, OMIM:113710, RefSeq DNA:NT_011515, RefSeq Protein:NP_003216, RefSeq RNA:NM_003225, UCSC Genome Browser:NM_003225, UniProtKB:P04155 No chr21 43782391 43786644 42362282 42366535 +PA36471 7032 HGNC:11756 ENSG00000160181 trefoil factor 2 TFF2 SML1 Yes No Comparative Toxicogenomics Database:7032, Ensembl:ENSG00000160181, GenAtlas:TFF2, GeneCard:TFF2, HGNC:HGNC:11756, HumanCyc Gene:HS08451, ModBase:Q03403, NCBI Gene:7032, OMIM:182590, RefSeq DNA:NT_011515, RefSeq Protein:NP_005414, RefSeq RNA:NM_005423, UCSC Genome Browser:NM_005423, UniProtKB:Q03403 No chr21 43766466 43771208 42346357 42351099 +PA36472 7033 HGNC:11757 ENSG00000160180 trefoil factor 3 TFF3 trefoil factor 3 (intestinal) HITF, ITF Yes No Comparative Toxicogenomics Database:7033, Ensembl:ENSG00000160180, GenAtlas:TFF3, GeneCard:TFF3, HGNC:HGNC:11757, HumanCyc Gene:HS08450, NCBI Gene:7033, OMIM:600633, RefSeq DNA:NT_011515, RefSeq Protein:NP_003217, RefSeq RNA:NM_003226, UCSC Genome Browser:NM_003226, UniProtKB:Q07654 No chr21 43731777 43735706 42311667 42315596 +PA36473 10342 HGNC:11758 ENSG00000114354 trafficking from ER to golgi regulator TFG TRK-fused gene FLJ36137, SPG57, TF6 Yes No Comparative Toxicogenomics Database:10342, Ensembl:ENSG00000114354, GenAtlas:TFG, GeneCard:TFG, HGNC:HGNC:11758, HumanCyc Gene:HS03760, ModBase:Q92734, NCBI Gene:10342, OMIM:602498, OMIM:612237, RefSeq DNA:NT_005612, RefSeq Protein:NP_001007566, RefSeq Protein:NP_001182407, RefSeq Protein:NP_001182408, RefSeq Protein:NP_006061, RefSeq RNA:NM_001007565, RefSeq RNA:NM_001195478, RefSeq RNA:NM_001195479, RefSeq RNA:NM_006070, UCSC Genome Browser:NM_006070, UniProtKB:Q92734 No chr3 100428128 100467811 100709284 100748967 +PA38441 24144 HGNC:17165 ENSG00000100109 tuftelin interacting protein 11 TFIP11 DKFZP434B194, Spp382, TIP39 Yes No Ensembl:ENSG00000100109, GenAtlas:TFIP11, GeneCard:TFIP11, HGNC:HGNC:17165, HumanCyc Gene:HS01979, ModBase:Q9UBB9, NCBI Gene:24144, OMIM:612747, RefSeq DNA:NT_011520, RefSeq Protein:NP_001008697, RefSeq Protein:NP_036275, RefSeq RNA:NM_001008697, RefSeq RNA:NM_012143, UCSC Genome Browser:NM_012143, UniProtKB:Q9UBB9 No chr22 26887893 26908462 26491927 26512496 +PA36475 7035 HGNC:11760 ENSG00000003436 tissue factor pathway inhibitor TFPI extrinsic pathway inhibitor, tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) EPI, LACI, TFI, TFPI1 Yes No Comparative Toxicogenomics Database:7035, Ensembl:ENSG00000003436, GenAtlas:TFPI, GeneCard:TFPI, HGNC:HGNC:11760, HumanCyc Gene:HS00095, ModBase:P10646, NCBI Gene:7035, OMIM:152310, RefSeq DNA:NT_005403, RefSeq Protein:NP_001027452, RefSeq Protein:NP_006278, RefSeq RNA:NM_001032281, RefSeq RNA:NM_006287, UCSC Genome Browser:NM_006287, UniProtKB:P10646 No chr2 188328957 188419219 187464230 187554498 +PA36476 7980 HGNC:11761 ENSG00000105825 tissue factor pathway inhibitor 2 TFPI2 PP5, REF1, TFPI-2 Yes No Comparative Toxicogenomics Database:7980, Ensembl:ENSG00000105825, GenAtlas:TFPI2, GeneCard:TFPI2, HGNC:HGNC:11761, HumanCyc Gene:HS02815, ModBase:P48307, NCBI Gene:7980, OMIM:600033, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_006519, RefSeq RNA:NM_006528, UCSC Genome Browser:NM_006528, UniProtKB:P48307 No chr7 93514709 93520303 93885397 93890991 +PA37802 29844 HGNC:13630 ENSG00000105619 TCF3 fusion partner TFPT """INO80 complex subunit F"", ""TCF3 (E2A) fusion partner (in childhood Leukemia)"", ""amida, partner of the E2A""" FB1, INO80F, amida Yes No Ensembl:ENSG00000105619, GenAtlas:TFPT, GeneCard:TFPT, HGNC:HGNC:13630, HumanCyc Gene:HS02774, ModBase:P0C1Z6, NCBI Gene:29844, OMIM:609519, RefSeq DNA:NT_011109, RefSeq Protein:NP_037474, RefSeq RNA:NM_013342, UCSC Genome Browser:NM_013342, UniProtKB:P0C1Z6 No chr19 54610320 54619055 54107013 54115675 +PA36477 7036 HGNC:11762 ENSG00000106327 transferrin receptor 2 TFR2 HFE3, TFRC2 Yes No Comparative Toxicogenomics Database:7036, Ensembl:ENSG00000106327, GenAtlas:TFR2, GeneCard:TFR2, HGNC:HGNC:11762, HumanCyc Gene:HS02887, ModBase:Q9UP52, NCBI Gene:7036, OMIM:604250, OMIM:604720, RefSeq DNA:NG_007989, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001193784, RefSeq Protein:NP_003218, RefSeq RNA:NM_001206855, RefSeq RNA:NM_003227, UCSC Genome Browser:NM_003227, UniProtKB:Q9UP52 No chr7 100218039 100240332 100620416 100642780 +PA36478 7037 HGNC:11763 ENSG00000072274 transferrin receptor TFRC transferrin receptor (p90, CD71) CD71, TFR1, p90 Yes No Comparative Toxicogenomics Database:7037, Ensembl:ENSG00000072274, GenAtlas:TFRC, GeneCard:TFRC, HGNC:HGNC:11763, HumanCyc Gene:HS01062, NCBI Gene:7037, OMIM:190010, RefSeq DNA:NT_029928, RefSeq Protein:NP_001121620, RefSeq Protein:NP_003225, RefSeq RNA:NM_001128148, RefSeq RNA:NM_003234, UCSC Genome Browser:NM_003234, UniProtKB:A8K6Q8, UniProtKB:P02786 No chr3 195776155 195809032 196049284 196082161 +PA36479 7038 HGNC:11764 ENSG00000042832 thyroglobulin TG AITD3, TGN Yes No Comparative Toxicogenomics Database:7038, Ensembl:ENSG00000042832, GenAtlas:TG, GeneCard:TG, HGNC:HGNC:11764, HumanCyc Gene:HS00565, ModBase:Q9UNY3, NCBI Gene:7038, OMIM:188450, OMIM:274700, OMIM:608175, RefSeq DNA:NG_015832, RefSeq DNA:NT_008046, RefSeq Protein:NP_003226, RefSeq RNA:NM_003235, UCSC Genome Browser:NM_003235, UniProtKB:P01266 No chr8 133879149 134147146 132866943 133134902 +PA128395791 23483 HGNC:20324 ENSG00000088451 TDP-glucose 4,6-dehydratase TGDS short chain dehydrogenase/reductase family 2E, member 1 SDR2E1, TDPGD Yes No Comparative Toxicogenomics Database:23483, Ensembl:ENSG00000088451, GeneCard:TGDS, HGNC:HGNC:20324, HumanCyc Gene:HS01603, ModBase:O95455, NCBI Gene:23483, RefSeq DNA:NT_009952, RefSeq Protein:NP_055120, RefSeq RNA:NM_014305, UCSC Genome Browser:NM_014305, UniProtKB:O95455, UniProtKB:Q05DQ3, UniProtKB:Q2TU31 No chr13 95226308 95248511 94574054 94596275 +PA36480 7039 HGNC:11765 ENSG00000163235 transforming growth factor alpha TGFA transforming growth factor, alpha Yes No Comparative Toxicogenomics Database:7039, Ensembl:ENSG00000163235, GenAtlas:TGFA, GeneCard:TGFA, HGNC:HGNC:11765, HumanCyc Gene:HS08811, ModBase:P01135, NCBI Gene:7039, OMIM:190170, RefSeq DNA:NT_022184, RefSeq Protein:NP_001093161, RefSeq Protein:NP_003227, RefSeq RNA:NM_001099691, RefSeq RNA:NM_003236, UCSC Genome Browser:NM_003236, UniProtKB:P01135 No chr2 70674412 70781147 70447280 70554015 +PA350 7040 HGNC:11766 ENSG00000105329 transforming growth factor beta 1 TGFB1 """Camurati-Engelmann disease"", ""Diaphyseal dysplasia 1, progressive"", ""prepro-transforming growth factor beta-1"", ""transforming growth factor, beta 1""" CED, DPD1, TGFB, TGFbeta Yes Yes Comparative Toxicogenomics Database:7040, Ensembl:ENSG00000105329, GenAtlas:TGFB1, GeneCard:TGFB1, HGNC:HGNC:11766, HumanCyc Gene:HS02714, ModBase:P01137, NCBI Gene:7040, OMIM:131300, OMIM:190180, OMIM:219700, RefSeq DNA:NG_013364, RefSeq DNA:NT_011109, RefSeq Protein:NP_000651, RefSeq RNA:NM_000660, UCSC Genome Browser:NM_000660, UniProtKB:P01137 No chr19 41836812 41859831 41330531 41353933 +PA36481 7041 HGNC:11767 ENSG00000140682 transforming growth factor beta 1 induced transcript 1 TGFB1I1 hydrogen peroxide-inducible clone-5 ARA55, HIC-5, Hic-5, TSC-5 Yes No Comparative Toxicogenomics Database:7041, Ensembl:ENSG00000140682, GenAtlas:TGFB1I1, GeneCard:TGFB1I1, HGNC:HGNC:11767, HumanCyc Gene:HS06750, ModBase:O43294, NCBI Gene:7041, OMIM:602353, RefSeq DNA:NT_010393, RefSeq Protein:NP_001035919, RefSeq Protein:NP_001158191, RefSeq Protein:NP_057011, RefSeq RNA:NM_001042454, RefSeq RNA:NM_001164719, RefSeq RNA:NM_015927, UCSC Genome Browser:NM_015927, UniProtKB:O43294 No chr16 31483476 31489281 31472155 31477960 +PA36482 7042 HGNC:11768 ENSG00000092969 transforming growth factor beta 2 TGFB2 """prepro-transforming growth factor beta-2"", ""transforming growth factor, beta 2""" Yes Yes Comparative Toxicogenomics Database:7042, Ensembl:ENSG00000092969, GenAtlas:TGFB2, GeneCard:TGFB2, HGNC:HGNC:11768, HumanCyc Gene:HS01786, ModBase:P61812, NCBI Gene:7042, OMIM:190220, RefSeq DNA:NT_167186, RefSeq Protein:NP_001129071, RefSeq Protein:NP_003229, RefSeq RNA:NM_001135599, RefSeq RNA:NM_003238, UCSC Genome Browser:NM_003238, UniProtKB:P61812 No chr1 218518676 218617961 218345334 218444619 +PA36483 7043 HGNC:11769 ENSG00000119699 transforming growth factor beta 3 TGFB3 """prepro-transforming growth factor beta-3"", ""transforming growth factor, beta 3""" ARVD, ARVD1 Yes No Comparative Toxicogenomics Database:7043, Ensembl:ENSG00000119699, GenAtlas:TGFB3, GeneCard:TGFB3, HGNC:HGNC:11769, HumanCyc Gene:HS04325, ModBase:P10600, NCBI Gene:7043, OMIM:107970, OMIM:190230, RefSeq DNA:NG_011715, RefSeq DNA:NT_026437, RefSeq Protein:NP_003230, RefSeq RNA:NM_003239, UCSC Genome Browser:NM_003239, UniProtKB:A5YM40, UniProtKB:B3KVH9, UniProtKB:P10600 No chr14 76424440 76449334 75958097 75982022 +PA36484 7045 HGNC:11771 ENSG00000120708 transforming growth factor beta induced TGFBI transforming growth factor, beta-induced, 68kDa BIGH3, CDB1, CDGG1, CSD1, CSD2, CSD3, LCD1 Yes No Comparative Toxicogenomics Database:7045, Ensembl:ENSG00000120708, GenAtlas:TGFBI, GeneCard:TGFBI, HGNC:HGNC:11771, HumanCyc Gene:HS04427, ModBase:Q15582, NCBI Gene:7045, OMIM:121820, OMIM:121900, OMIM:122200, OMIM:601692, OMIM:602082, OMIM:607541, OMIM:608470, OMIM:608471, RefSeq DNA:NG_012646, RefSeq DNA:NT_034772, RefSeq Protein:NP_000349, RefSeq RNA:NM_000358, UCSC Genome Browser:NM_000358, UniProtKB:Q15582 No chr5 135364584 135399507 136028895 136063818 +PA36485 7046 HGNC:11772 ENSG00000106799 transforming growth factor beta receptor 1 TGFBR1 """activin A receptor type II-like kinase, 53kDa"", ""transforming growth factor, beta receptor 1""" ACVRLK4, ALK-5, ALK5, ESS1, MSSE, TBR-i, TBRI Yes No Comparative Toxicogenomics Database:7046, Ensembl:ENSG00000106799, GenAtlas:TGFBR1, GeneCard:TGFBR1, HGNC:HGNC:11772, HumanCyc Gene:HS02952, ModBase:P36897, NCBI Gene:7046, OMIM:190181, OMIM:608967, OMIM:609129, OMIM:609192, RefSeq DNA:NG_007461, RefSeq DNA:NT_008470, RefSeq Protein:NP_001124388, RefSeq Protein:NP_004603, RefSeq RNA:NM_001130916, RefSeq RNA:NM_004612, UCSC Genome Browser:NM_004612, UniProtKB:P36897, UniProtKB:Q5T7S2, UniProtKB:Q6IR47 No chr9 101867412 101916474 99104038 99154192 +PA36486 7048 HGNC:11773 ENSG00000163513 transforming growth factor beta receptor 2 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) MFS2, TBR-ii, TBRII Yes Yes Comparative Toxicogenomics Database:7048, Ensembl:ENSG00000163513, GenAtlas:TGFBR2, GeneCard:TGFBR2, HGNC:HGNC:11773, HumanCyc Gene:HS08865, ModBase:P37173, NCBI Gene:7048, OMIM:133239, OMIM:190182, OMIM:610168, OMIM:610380, RefSeq DNA:NG_007490, RefSeq DNA:NT_022517, RefSeq Protein:NP_001020018, RefSeq Protein:NP_003233, RefSeq RNA:NM_001024847, RefSeq RNA:NM_003242, UCSC Genome Browser:NM_003242, UniProtKB:A3QNQ0, UniProtKB:D2JYI1, UniProtKB:P37173 No chr3 30647994 30735634 30606490 30694142 +PA36487 7049 HGNC:11774 ENSG00000069702 transforming growth factor beta receptor 3 TGFBR3 """betaglycan proteoglycan"", ""transforming growth factor, beta receptor III""" BGCAN, betaglycan Yes Yes Comparative Toxicogenomics Database:7049, Ensembl:ENSG00000069702, GenAtlas:TGFBR3, GeneCard:TGFBR3, HGNC:HGNC:11774, HumanCyc Gene:HS00969, ModBase:Q03167, NCBI Gene:7049, OMIM:600742, RefSeq DNA:NT_032977, RefSeq Protein:NP_001182612, RefSeq Protein:NP_001182613, RefSeq Protein:NP_003234, RefSeq RNA:NM_001195683, RefSeq RNA:NM_001195684, RefSeq RNA:NM_003243, RefSeq RNA:NR_036634, UCSC Genome Browser:NM_003243, UniProtKB:A8K5N0, UniProtKB:Q03167 No chr1 92145900 92371559 91680343 91906002 +PA166049107 100507588 HGNC:44152 ENSG00000260001 transforming growth factor beta receptor 3 like TGFBR3L """gonadotroph enriched membrane protein"", ""transforming growth factor, beta receptor III-like""" GEMP Yes No Ensembl:ENSG00000260001, HGNC:HGNC:44152, NCBI Gene:100507588 No chr19 7981032 7983980 7915211 7919097 +PA134963946 9392 HGNC:16836 ENSG00000135966 transforming growth factor beta receptor associated protein 1 TGFBRAP1 """VPS3 CORVET complex subunit"", ""transforming growth factor, beta receptor associated protein 1""" TRAP-1, TRAP1, VPS3 Yes No Ensembl:ENSG00000135966, GeneCard:TGFBRAP1, HGNC:HGNC:16836, HumanCyc Gene:HS06095, ModBase:Q8WUH2, NCBI Gene:9392, OMIM:606237, RefSeq DNA:NT_022171, RefSeq Protein:NP_001136093, RefSeq Protein:NP_004248, RefSeq RNA:NM_001142621, RefSeq RNA:NM_004257, UniProtKB:Q8WUH2 No chr2 105865861 105946148 105249404 105329714 +PA166352222 HGNC:11775 transforming growth factor, beta-1 response element TGFBRE TGFR Yes No HGNC:HGNC:11775 No 0 0 0 0 +PA36489 7050 HGNC:11776 ENSG00000177426 TGFB induced factor homeobox 1 TGIF1 TGFB-induced factor homeobox 1 HPE4, TGIF Yes No Comparative Toxicogenomics Database:7050, Ensembl:ENSG00000177426, GenAtlas:TGIF, GeneCard:TGIF, GeneCard:TGIF1, HGNC:HGNC:11776, HumanCyc Gene:HS11166, NCBI Gene:7050, OMIM:142946, OMIM:602630, OMIM:605389, RefSeq DNA:NG_007447, RefSeq DNA:NT_010859, RefSeq Protein:NP_003235, RefSeq Protein:NP_733796, RefSeq Protein:NP_775299, RefSeq Protein:NP_775300, RefSeq Protein:NP_775301, RefSeq Protein:NP_775302, RefSeq Protein:NP_775303, RefSeq Protein:NP_777480, RefSeq RNA:NM_003244, RefSeq RNA:NM_170695, RefSeq RNA:NM_173207, RefSeq RNA:NM_173208, RefSeq RNA:NM_173209, RefSeq RNA:NM_173210, RefSeq RNA:NM_173211, RefSeq RNA:NM_174886, UCSC Genome Browser:NM_003244, UniProtKB:A6NE42, UniProtKB:A6NLU7, UniProtKB:Q15583 No chr18 3411925 3458409 3411927 3458412 +PA38035 60436 HGNC:15764 ENSG00000118707 TGFB induced factor homeobox 2 TGIF2 TGFB-induced factor homeobox 2 Yes No Ensembl:ENSG00000118707, GenAtlas:TGIF2, GeneCard:TGIF2, HGNC:HGNC:15764, HumanCyc Gene:HS04245, ModBase:Q9GZN2, NCBI Gene:60436, OMIM:607294, RefSeq DNA:NT_011362, RefSeq Protein:NP_001186442, RefSeq Protein:NP_001186443, RefSeq Protein:NP_001186444, RefSeq Protein:NP_068581, RefSeq RNA:NM_001199513, RefSeq RNA:NM_001199514, RefSeq RNA:NM_001199515, RefSeq RNA:NM_021809, UCSC Genome Browser:NM_021809, UniProtKB:Q9GZN2 No chr20 35201876 35222355 36573473 36593952 +PA38582 90316 HGNC:18570 ENSG00000153779 TGFB induced factor homeobox 2 like X-linked TGIF2LX TGFB-induced factor homeobox 2-like, X-linked Yes No Ensembl:ENSG00000153779, GenAtlas:TGIF2LX, GeneCard:TGIF2LX, HGNC:HGNC:18570, ModBase:Q8IUE1, NCBI Gene:90316, OMIM:300411, RefSeq DNA:NT_011651, RefSeq Protein:NP_620410, RefSeq RNA:NM_138960, UCSC Genome Browser:NM_138960, UniProtKB:Q8IUE1 No chrX 89176940 89177882 89921941 89922883 +PA38581 90655 HGNC:18569 ENSG00000176679 TGFB induced factor homeobox 2 like Y-linked TGIF2LY TGFB-induced factor homeobox 2-like, Y-linked Yes No Ensembl:ENSG00000176679, GenAtlas:TGIF2LY, GeneCard:TGIF2LY, HGNC:HGNC:18569, HumanCyc Gene:HS07921, HumanCyc Gene:HS16710, ModBase:Q8IUE0, NCBI Gene:90655, OMIM:400025, RefSeq DNA:NT_011896, RefSeq Protein:NP_631960, RefSeq RNA:NM_139214, UCSC Genome Browser:NM_139214, UniProtKB:Q8IUE0 No chrY 3447126 3448082 3579085 3580041 +PA36490 7051 HGNC:11777 ENSG00000092295 transglutaminase 1 TGM1 K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase ICR2, LI, LI1, TGASE, TGK Yes No Comparative Toxicogenomics Database:7051, Ensembl:ENSG00000092295, GenAtlas:TGM1, GeneCard:TGM1, HGNC:HGNC:11777, HumanCyc Gene:HS01767, ModBase:P22735, NCBI Gene:7051, OMIM:190195, OMIM:242100, OMIM:242300, RefSeq DNA:NG_007150, RefSeq DNA:NT_026437, RefSeq Protein:NP_000350, RefSeq RNA:NM_000359, UCSC Genome Browser:NM_000359, UniProtKB:P22735 No chr14 24718159 24733115 24249114 24263210 +PA36491 7052 HGNC:11778 ENSG00000198959 transglutaminase 2 TGM2 C polypeptide, protein-glutamine-gamma-glutamyltransferase TG2, TGC Yes No Comparative Toxicogenomics Database:7052, Ensembl:ENSG00000198959, GenAtlas:TGM2, GeneCard:TGM2, HGNC:HGNC:11778, HumanCyc Gene:HS02263, ModBase:P21980, NCBI Gene:7052, OMIM:190196, RefSeq DNA:NT_011362, RefSeq Protein:NP_004604, RefSeq Protein:NP_945189, RefSeq RNA:NM_004613, RefSeq RNA:NM_198951, UCSC Genome Browser:NM_004613, UniProtKB:P21980 No chr20 36756863 36794910 38127387 38166578 +PA36492 7053 HGNC:11779 ENSG00000125780 transglutaminase 3 TGM3 E polypeptide, protein-glutamine-gamma-glutamyltransferase TGE Yes No Comparative Toxicogenomics Database:7053, Ensembl:ENSG00000125780, GenAtlas:TGM3, GeneCard:TGM3, HGNC:HGNC:11779, HumanCyc Gene:HS04931, NCBI Gene:7053, OMIM:600238, RefSeq DNA:NT_011387, RefSeq Protein:NP_003236, RefSeq RNA:NM_003245, UCSC Genome Browser:NM_003245, UniProtKB:Q08188 No chr20 2276613 2321725 2295967 2341079 +PA36493 7047 HGNC:11780 ENSG00000163810 transglutaminase 4 TGM4 TGP Yes No Comparative Toxicogenomics Database:7047, Ensembl:ENSG00000163810, GenAtlas:TGM4, GeneCard:TGM4, HGNC:HGNC:11780, HumanCyc Gene:HS08943, ModBase:P49221, NCBI Gene:7047, OMIM:600585, RefSeq DNA:NT_022517, RefSeq Protein:NP_003232, RefSeq RNA:NM_003241, UCSC Genome Browser:NM_003241, UniProtKB:P49221 No chr3 44916098 44956093 44874592 44914601 +PA36494 9333 HGNC:11781 ENSG00000104055 transglutaminase 5 TGM5 protein-glutamine gamma-glutamyltransferase 5 TGMX, TGX Yes No Comparative Toxicogenomics Database:9333, Ensembl:ENSG00000104055, GenAtlas:TGM5, GeneCard:TGM5, HGNC:HGNC:11781, HumanCyc Gene:HS02541, ModBase:O43548, NCBI Gene:9333, OMIM:270300, OMIM:603805, OMIM:609796, RefSeq DNA:NG_016124, RefSeq DNA:NT_010194, RefSeq Protein:NP_004236, RefSeq Protein:NP_963925, RefSeq RNA:NM_004245, RefSeq RNA:NM_201631, UCSC Genome Browser:NM_004245, UniProtKB:B4DPS8, UniProtKB:O43548 No chr15 43524793 43559055 43232595 43266857 +PA38098 343641 HGNC:16255 ENSG00000166948 transglutaminase 6 TGM6 protein-glutamine gamma-glutamyltransferase 6, spinocerebellar ataxia 35 SCA35, TGM3L, TGY, dJ734P14.3 Yes No Ensembl:ENSG00000166948, GenAtlas:TGM6, GeneCard:TGM6, HGNC:HGNC:16255, ModBase:O95932, NCBI Gene:343641, RefSeq DNA:NT_011387, RefSeq Protein:NP_945345, RefSeq RNA:NM_198994, UniProtKB:O95932 No chr20 2361554 2413399 2380908 2432753 +PA134870048 116179 HGNC:30790 ENSG00000159495 transglutaminase 7 TGM7 transglutaminase Z TGMZ Yes No Ensembl:ENSG00000159495, GeneCard:TGM7, HGNC:HGNC:30790, HumanCyc Gene:HS08407, ModBase:Q96PF1, NCBI Gene:116179, OMIM:606776, RefSeq DNA:NT_010194, RefSeq Protein:NP_443187, RefSeq RNA:NM_052955, UniProtKB:Q96PF1 No chr15 43568479 43594453 43276277 43302255 +PA37959 10618 HGNC:15450 ENSG00000152291 trans-golgi network protein 2 TGOLN2 trans-Golgi network protein (46, 48, 51kD isoforms) TGN38, TGN46, TGN48, TGN51, TTGN2 Yes No Comparative Toxicogenomics Database:10618, Ensembl:ENSG00000152291, GenAtlas:TGOLN2, GeneCard:TGOLN2, HGNC:HGNC:15450, HumanCyc Gene:HS07806, NCBI Gene:10618, OMIM:603062, RefSeq DNA:NT_022184, RefSeq Protein:NP_001193769, RefSeq Protein:NP_001193770, RefSeq Protein:NP_001193773, RefSeq Protein:NP_006455, RefSeq RNA:NM_001206840, RefSeq RNA:NM_001206841, RefSeq RNA:NM_001206844, RefSeq RNA:NM_006464, UCSC Genome Browser:NM_006464, UniProtKB:O43493 No chr2 85545141 85555419 85318018 85328296 +PA162405660 96764 HGNC:17843 ENSG00000137574 trimethylguanosine synthase 1 TGS1 NCOA6IP, PIMT Yes No Ensembl:ENSG00000137574, GeneCard:TGS1, HGNC:HGNC:17843, HumanCyc Gene:HS06364, ModBase:Q96RS0, NCBI Gene:96764, OMIM:606461, RefSeq DNA:NT_008183, RefSeq Protein:NP_079107, RefSeq RNA:NM_024831, UniProtKB:Q96RS0 No chr8 56685791 56738007 55773232 55826445 +PA351 7054 HGNC:11782 ENSG00000180176 tyrosine hydroxylase TH tyrosine 3-monooxygenase DYT5b Yes Yes Comparative Toxicogenomics Database:7054, Ensembl:ENSG00000180176, GenAtlas:TH, GeneCard:TH, HGNC:HGNC:11782, HumanCyc Gene:HS11459, ModBase:P07101, NCBI Gene:7054, OMIM:191290, OMIM:605407, RefSeq DNA:NG_008128, RefSeq DNA:NT_009237, RefSeq Protein:NP_000351, RefSeq Protein:NP_954986, RefSeq Protein:NP_954987, RefSeq RNA:NM_000360, RefSeq RNA:NM_199292, RefSeq RNA:NM_199293, UCSC Genome Browser:NM_000360, UniProtKB:P07101, UniProtKB:P78428 No chr11 2185159 2193107 2163929 2174081 +PA142670817 390816 HGNC:18004 ENSG00000267676 threonine aldolase 1, pseudogene THA1P GLY1 Yes No Ensembl:ENSG00000267676, GeneCard:THA1P, HGNC:HGNC:18004, NCBI Gene:390816, RefSeq DNA:NG_009023, RefSeq DNA:NT_010783 No chr17 76244671 76252266 78248590 78256185 +PA134882460 63892 HGNC:19217 ENSG00000115970 THADA armadillo repeat containing THADA """THADA, armadillo repeat containing"", ""Trm732 homolog (S. cerevisiae)"", ""thyroid adenoma associated""" ARMC13, FLJ21877, GITA, KIAA1767, Trm732 Yes No Comparative Toxicogenomics Database:63892, Ensembl:ENSG00000115970, GeneCard:THADA, HGNC:HGNC:19217, HumanCyc Gene:HS03962, ModBase:Q96I88, NCBI Gene:63892, OMIM:611800, RefSeq DNA:NT_022184, RefSeq Protein:NP_001077422, RefSeq Protein:NP_071348, RefSeq RNA:NM_001083953, RefSeq RNA:NM_022065, UniProtKB:Q6YHU6 No chr2 43457975 43823185 43230836 43596046 +PA134920361 55145 HGNC:20856 ENSG00000131931 THAP domain containing 1 THAP1 THAP domain containing, apoptosis associated protein 1 4833431A01Rik, DYT6, FLJ10477 Yes No Ensembl:ENSG00000131931, GeneCard:THAP1, HGNC:HGNC:20856, HumanCyc Gene:HS13402, ModBase:Q9NVV9, NCBI Gene:55145, OMIM:602629, OMIM:609520, RefSeq DNA:NG_011837, RefSeq DNA:NT_167187, RefSeq Protein:NP_060575, RefSeq Protein:NP_945354, RefSeq RNA:NM_018105, RefSeq RNA:NM_199003, UniProtKB:Q9NVV9 No chr8 42691817 42698474 42836674 42843331 +PA134988462 56906 HGNC:23193 ENSG00000129028 THAP domain containing 10 THAP10 Yes No Ensembl:ENSG00000129028, GeneCard:THAP10, HGNC:HGNC:23193, HumanCyc Gene:HS13290, ModBase:Q9P2Z0, NCBI Gene:56906, OMIM:612538, RefSeq DNA:NT_010194, RefSeq Protein:NP_064532, RefSeq RNA:NM_020147, UniProtKB:Q9P2Z0 No chr15 71173681 71184772 70881342 70892433 +PA134979842 57215 HGNC:23194 ENSG00000168286 THAP domain containing 11 THAP11 CTG-B43a, CTG-B45d, HRIHFB2206, RONIN Yes No Comparative Toxicogenomics Database:57215, Ensembl:ENSG00000168286, GeneCard:THAP11, HGNC:HGNC:23194, ModBase:Q96EK4, NCBI Gene:57215, OMIM:609119, RefSeq DNA:NT_010498, RefSeq Protein:NP_065190, RefSeq RNA:NM_020457, UniProtKB:Q96EK4 No chr16 67876213 67878098 67842310 67844195 +PA33781 5612 HGNC:9440 ENSG00000137492 THAP domain containing 12 THAP12 """52 kDa repressor of the inhibitor of the protein kinase"", ""P58IPK-regulatory protein"", ""THAP domain containing 12"", ""death-associated protein 4"", ""protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)""" DAP4, P52rIPK, PRKRIR, THAP0, THAP12 Yes No Ensembl:ENSG00000137492, GenAtlas:PRKRIR, GeneCard:PRKRIR, HGNC:HGNC:9440, HumanCyc Gene:HS06348, ModBase:O43422, NCBI Gene:5612, OMIM:607374, RefSeq DNA:NT_167190, RefSeq Protein:NP_004696, RefSeq RNA:NM_004705, UCSC Genome Browser:NM_004705, UniProtKB:O43422 No chr11 76061004 76091880 76349956 76380965 +PA134886354 83591 HGNC:20854 ENSG00000173451 THAP domain containing 2 THAP2 THAP domain containing, apoptosis associated protein 2 DKFZP564I0422 Yes No Comparative Toxicogenomics Database:83591, Ensembl:ENSG00000173451, GeneCard:THAP2, HGNC:HGNC:20854, HumanCyc Gene:HS16212, ModBase:Q9H0W7, NCBI Gene:83591, OMIM:612531, RefSeq DNA:NT_029419, RefSeq Protein:NP_113623, RefSeq RNA:NM_031435, UniProtKB:Q9H0W7 No chr12 72057677 72074428 71663897 71680648 +PA134987111 90326 HGNC:20855 ENSG00000041988 THAP domain containing 3 THAP3 THAP domain containing, apoptosis associated protein 3 Yes No Comparative Toxicogenomics Database:90326, Ensembl:ENSG00000041988, GeneCard:THAP3, HGNC:HGNC:20855, ModBase:Q8WTV1, NCBI Gene:90326, OMIM:612532, RefSeq DNA:NT_021937, RefSeq Protein:NP_001182681, RefSeq Protein:NP_001182682, RefSeq Protein:NP_612359, RefSeq RNA:NM_001195752, RefSeq RNA:NM_001195753, RefSeq RNA:NM_138350, UniProtKB:Q8WTV1 No chr1 6684925 6695646 6624645 6635586 +PA134864723 51078 HGNC:23187 ENSG00000176946 THAP domain containing 4 THAP4 nitrobindin CGI-36, Nb(III) Yes No Comparative Toxicogenomics Database:51078, Ensembl:ENSG00000176946, GeneCard:THAP4, HGNC:HGNC:23187, HumanCyc Gene:HS16757, ModBase:Q8WY91, NCBI Gene:51078, OMIM:612533, RefSeq DNA:NT_005416, RefSeq Protein:NP_001157828, RefSeq Protein:NP_057047, RefSeq RNA:NM_001164356, RefSeq RNA:NM_015963, UniProtKB:Q8WY91 No chr2 242523820 242576753 241584405 241637543 +PA134905837 168451 HGNC:23188 ENSG00000177683 THAP domain containing 5 THAP5 DKFZp313O1132 Yes No Ensembl:ENSG00000177683, GeneCard:THAP5, HGNC:HGNC:23188, NCBI Gene:168451, OMIM:612534, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001123947, RefSeq Protein:NP_872335, RefSeq RNA:NM_001130475, RefSeq RNA:NM_182529, UniProtKB:Q7Z6K1 No chr7 108202671 108210189 108562144 108569768 +PA134873449 152815 HGNC:23189 ENSG00000174796 THAP domain containing 6 THAP6 MGC30052 Yes No Ensembl:ENSG00000174796, GeneCard:THAP6, HGNC:HGNC:23189, HumanCyc Gene:HS16394, ModBase:Q8TBB0, NCBI Gene:152815, OMIM:612535, RefSeq DNA:NT_016354, RefSeq Protein:NP_653322, RefSeq RNA:NM_144721, UniProtKB:Q5JPC6, UniProtKB:Q8TBB0 No chr4 76439654 76468610 75513951 75547334 +PA134964580 80764 HGNC:23190 ENSG00000184436 THAP domain containing 7 THAP7 MGC10963 Yes No Comparative Toxicogenomics Database:80764, Ensembl:ENSG00000184436, GeneCard:THAP7, HGNC:HGNC:23190, ModBase:Q9BT49, NCBI Gene:80764, OMIM:609518, RefSeq DNA:NT_011520, RefSeq Protein:NP_001008695, RefSeq Protein:NP_085050, RefSeq RNA:NM_001008695, RefSeq RNA:NM_030573, UniProtKB:Q9BT49 No chr22 21354061 21356404 20999772 21002115 +PA134973337 199745 HGNC:23191 ENSG00000161277 THAP domain containing 8 THAP8 FLJ32891 Yes No Ensembl:ENSG00000161277, GeneCard:THAP8, HGNC:HGNC:23191, HumanCyc Gene:HS14857, ModBase:Q8NA92, NCBI Gene:199745, OMIM:612536, RefSeq DNA:NT_011109, RefSeq Protein:NP_689871, RefSeq RNA:NM_152658, UniProtKB:Q8NA92 No chr19 36525886 36545664 36034984 36054785 +PA134981371 79725 HGNC:23192 ENSG00000168152 THAP domain containing 9 THAP9 FLJ34093 Yes No Ensembl:ENSG00000168152, GeneCard:THAP9, HGNC:HGNC:23192, HumanCyc Gene:HS15642, ModBase:Q9H5L6, NCBI Gene:79725, OMIM:612537, RefSeq DNA:NT_016354, RefSeq Protein:NP_078948, RefSeq RNA:NM_024672, UniProtKB:Q9H5L6 No chr4 83821837 83841284 82900650 82920283 +PA36496 7056 HGNC:11784 ENSG00000178726 thrombomodulin THBD fetomodulin BDCA-3, CD141, THRM Yes Yes Comparative Toxicogenomics Database:7056, Ensembl:ENSG00000178726, GenAtlas:THBD, GeneCard:THBD, HGNC:HGNC:11784, HumanCyc Gene:HS11310, ModBase:P07204, NCBI Gene:7056, OMIM:188040, OMIM:612926, RefSeq DNA:NG_012027, RefSeq DNA:NT_011387, RefSeq Protein:NP_000352, RefSeq RNA:NM_000361, UCSC Genome Browser:NM_000361, UniProtKB:P07204 No chr20 23026270 23030301 23045633 23049664 +PA36497 7057 HGNC:11785 ENSG00000137801 thrombospondin 1 THBS1 thrombospondin-1p180 THBS, THBS-1, TSP, TSP-1, TSP1 Yes No Comparative Toxicogenomics Database:7057, Ensembl:ENSG00000137801, GenAtlas:THBS1, GeneCard:THBS1, HGNC:HGNC:11785, HumanCyc Gene:HS06395, ModBase:P07996, NCBI Gene:7057, OMIM:188060, RefSeq DNA:NT_010194, RefSeq Protein:NP_003237, RefSeq RNA:NM_003246, UCSC Genome Browser:NM_003246, UniProtKB:P07996 No chr15 39873280 39889668 39581079 39598918 +PA36498 7058 HGNC:11786 ENSG00000186340 thrombospondin 2 THBS2 TSP2 Yes No Comparative Toxicogenomics Database:7058, Ensembl:ENSG00000186340, GenAtlas:THBS2, GeneCard:THBS2, HGNC:HGNC:11786, ModBase:P35442, NCBI Gene:7058, OMIM:188061, OMIM:603932, RefSeq DNA:NG_022911, RefSeq DNA:NT_025741, RefSeq Protein:NP_003238, RefSeq RNA:NM_003247, UCSC Genome Browser:NM_003247, UniProtKB:P35442, UniProtKB:Q6MZL6 No chr6 169615875 169654137 169215780 169254114 +PA36499 7059 HGNC:11787 ENSG00000169231 thrombospondin 3 THBS3 Yes No Comparative Toxicogenomics Database:7059, Ensembl:ENSG00000169231, GenAtlas:THBS3, GeneCard:THBS3, HGNC:HGNC:11787, HumanCyc Gene:HS09909, ModBase:P49746, NCBI Gene:7059, OMIM:188062, RefSeq DNA:NT_004487, RefSeq Protein:NP_009043, RefSeq RNA:NM_007112, UCSC Genome Browser:NM_007112, UniProtKB:B3KQE1, UniProtKB:P49746 No chr1 155165379 155177772 155195588 155209180 +PA36500 7060 HGNC:11788 ENSG00000113296 thrombospondin 4 THBS4 Yes No Comparative Toxicogenomics Database:7060, Ensembl:ENSG00000113296, GenAtlas:THBS4, GeneCard:THBS4, HGNC:HGNC:11788, HumanCyc Gene:HS03666, ModBase:P35443, NCBI Gene:7060, OMIM:600715, RefSeq DNA:NT_006713, RefSeq Protein:NP_003239, RefSeq RNA:NM_003248, UCSC Genome Browser:NM_003248, UniProtKB:P35443 No chr5 79331170 79379111 79991296 80083287 +PA142670813 117145 HGNC:17947 ENSG00000159445 thioesterase superfamily member 4 THEM4 C-terminal modulator protein CTMP Yes No Ensembl:ENSG00000159445, GeneCard:THEM4, HGNC:HGNC:17947, HumanCyc Gene:HS08402, ModBase:Q5T1C6, NCBI Gene:117145, OMIM:606388, RefSeq DNA:NT_004487, RefSeq Protein:NP_444283, RefSeq RNA:NM_053055, UniProtKB:Q5T1C6 No chr1 151843342 151882361 151870866 151909885 +PA144596265 677880 HGNC:32692 thioesterase superfamily member 4 pseudogene 1 THEM4P1 Yes No GeneCard:THEM4P1, HGNC:HGNC:32692, NCBI Gene:677880 No chr12 22161592 22162324 22008658 22009390 +PA142670814 284486 HGNC:26755 ENSG00000196407 thioesterase superfamily member 5 THEM5 FLJ37964 Yes No Comparative Toxicogenomics Database:284486, Ensembl:ENSG00000196407, GeneCard:THEM5, HGNC:HGNC:26755, ModBase:Q8N1Q8, NCBI Gene:284486, RefSeq DNA:NT_004487, RefSeq Protein:NP_872384, RefSeq RNA:NM_182578, UniProtKB:Q8N1Q8 No chr1 151818220 151826173 151847101 151853697 +PA142672318 51337 HGNC:29656 ENSG00000130193 thioesterase superfamily member 6 THEM6 C8orf55, DSCD75 Yes No Ensembl:ENSG00000130193, GeneCard:C8orf55, HGNC:HGNC:29656, HumanCyc Gene:HS05350, ModBase:Q8WUY1, NCBI Gene:51337, RefSeq DNA:NT_008046, RefSeq Protein:NP_057731, RefSeq RNA:NM_016647, UniProtKB:Q8WUY1 No chr8 143808621 143818350 142727194 142736932 +PA165618330 387357 HGNC:21569 ENSG00000172673 thymocyte selection associated THEMIS thymocyte expressed molecule involved in selection C6orf190, C6orf207, FLJ40584, THEMIS1, TSEPA, bA325O24.3, bA325O24.4 Yes No Ensembl:ENSG00000172673, GeneCard:THEMIS, HGNC:HGNC:21569, NCBI Gene:387357, RefSeq DNA:NG_016226, RefSeq DNA:NT_025741, RefSeq Protein:NP_001010923, RefSeq Protein:NP_001158157, RefSeq Protein:NP_001158159, RefSeq RNA:NM_001010923, RefSeq RNA:NM_001164685, RefSeq RNA:NM_001164687, UniProtKB:Q8N1K5 No chr6 128029339 128239776 127697191 127918631 +PA128394550 9473 HGNC:16839 ENSG00000130775 thymocyte selection associated family member 2 THEMIS2 induced by contact to basement membrane 1 C1orf38, ICB-1, Icb-1 Yes No Ensembl:ENSG00000130775, GeneCard:C1orf38, HGNC:HGNC:16839, HumanCyc Gene:HS05442, ModBase:Q9NS90, NCBI Gene:9473, RefSeq DNA:NT_004610, RefSeq Protein:NP_001034566, RefSeq Protein:NP_001099026, RefSeq Protein:NP_004839, RefSeq RNA:NM_001039477, RefSeq RNA:NM_001105556, RefSeq RNA:NM_004848, UCSC Genome Browser:NM_004848, UniProtKB:Q5TEJ8 No chr1 28199055 28213196 27872531 27886685 +PA162405691 54974 HGNC:26053 ENSG00000113272 tRNA-histidine guanylyltransferase 1 like THG1L induced by high glucose-1, interphase cytoplasmic foci protein 45, tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) FLJ11601, FLJ20546, ICF45, IHG-1, hTHG1 Yes No Ensembl:ENSG00000113272, GeneCard:THG1L, HGNC:HGNC:26053, HumanCyc Gene:HS12789, NCBI Gene:54974, RefSeq DNA:NT_023133, RefSeq Protein:NP_060342, RefSeq RNA:NM_017872, UniProtKB:Q9NWX6 No chr5 157158323 157166982 157731389 157741449 +PA134906927 79896 HGNC:26160 ENSG00000185875 threonine synthase like 1 THNSL1 threonine synthase-like 1 (S. cerevisiae) FLJ22002, TSH1 Yes No Comparative Toxicogenomics Database:79896, Ensembl:ENSG00000185875, GeneCard:THNSL1, HGNC:HGNC:26160, ModBase:Q8IYQ7, NCBI Gene:79896, OMIM:611260, RefSeq DNA:NT_008705, RefSeq Protein:NP_079114, RefSeq RNA:NM_024838, UniProtKB:Q8IYQ7, UniProtKB:Q9H6P9 No chr10 25305508 25315593 24952319 25026664 +PA162405692 55258 HGNC:25602 ENSG00000144115 threonine synthase like 2 THNSL2 secreted osteoclastogenic factor of activated T cells, threonine synthase-like 2 (S. cerevisiae) FLJ10916, SOFAT, TSH2 Yes No Ensembl:ENSG00000144115, GeneCard:THNSL2, HGNC:HGNC:25602, HumanCyc Gene:HS14004, NCBI Gene:55258, OMIM:611261, RefSeq DNA:NT_022184, RefSeq Protein:NP_060741, RefSeq RNA:NM_018271, UniProtKB:Q86YJ6 No chr2 88469814 88486156 88170295 88186637 +PA134887435 9984 HGNC:19070 ENSG00000079134 THO complex subunit 1 THOC1 THO complex 1 HPR1, P84 Yes No Comparative Toxicogenomics Database:9984, Ensembl:ENSG00000079134, GeneCard:THOC1, HGNC:HGNC:19070, HumanCyc Gene:HS01312, ModBase:Q96FV9, NCBI Gene:9984, OMIM:606930, RefSeq DNA:NT_010859, RefSeq Protein:NP_005122, RefSeq RNA:NM_005131, UniProtKB:Q96FV9 No chr18 214520 268059 214348 268059 +PA128395788 57187 HGNC:19073 ENSG00000125676 THO complex subunit 2 THOC2 THO complex 2 CXorf3, MRX12, MRX35, THO2, dJ506G2.1 Yes No Comparative Toxicogenomics Database:57187, Ensembl:ENSG00000125676, GeneCard:THOC2, HGNC:HGNC:19073, HumanCyc Gene:HS13173, ModBase:Q8NI27, NCBI Gene:57187, OMIM:300395, RefSeq DNA:NG_021468, RefSeq DNA:NT_011786, RefSeq Protein:NP_001075019, RefSeq Protein:NP_065182, RefSeq RNA:NM_001081550, RefSeq RNA:NM_020449, UniProtKB:Q8NI27 No chrX 122734412 122866904 123600561 123733054 +PA134893535 84321 HGNC:19072 ENSG00000051596 THO complex subunit 3 THOC3 THO complex 3 MGC5469, TEX1 Yes No Ensembl:ENSG00000051596, GeneCard:THOC3, HGNC:HGNC:19072, HumanCyc Gene:HS12125, HumanCyc Gene:HS15843, ModBase:Q96J01, NCBI Gene:84321, OMIM:606929, RefSeq DNA:NT_023133, RefSeq Protein:NP_115737, RefSeq RNA:NM_032361, UniProtKB:Q96J01 No chr5 175386534 175395318 175959531 176034905 +PA38188 8563 HGNC:19074 ENSG00000100296 THO complex subunit 5 THOC5 THO complex 5, functional spliceosome-associated protein 79 C22orf19, Fmip, KIAA0983, PK1.3, fSAP79 Yes No Ensembl:ENSG00000100296, GenAtlas:THOC5, GeneCard:THOC5, HGNC:HGNC:19074, HumanCyc Gene:HS02029, ModBase:Q13769, NCBI Gene:8563, OMIM:612733, RefSeq DNA:NT_011520, RefSeq Protein:NP_001002877, RefSeq Protein:NP_001002878, RefSeq Protein:NP_001002879, RefSeq Protein:NP_003669, RefSeq RNA:NM_001002877, RefSeq RNA:NM_001002878, RefSeq RNA:NM_001002879, RefSeq RNA:NM_003678, UCSC Genome Browser:NM_003678, UniProtKB:Q13769 No chr22 29904156 29949749 29508167 29554254 +PA142670592 79228 HGNC:28369 ENSG00000131652 THO complex subunit 6 THOC6 THO complex 6, THO complex 6 homolog (Drosophila), functional spliceosome-associated protein 35 MGC2655, WDR58, fSAP35 Yes No Ensembl:ENSG00000131652, GeneCard:THOC6, HGNC:HGNC:28369, HumanCyc Gene:HS13393, ModBase:Q86W42, NCBI Gene:79228, RefSeq DNA:NT_010393, RefSeq Protein:NP_001135822, RefSeq Protein:NP_077315, RefSeq RNA:NM_001142350, RefSeq RNA:NM_024339, UniProtKB:Q86W42 No chr16 3074032 3077756 3024031 3027755 +PA144596266 80145 HGNC:29874 ENSG00000163634 THO complex subunit 7 THOC7 Ngg1 interacting factor 3 like 1 binding protein 1, THO complex 7, THO complex 7 homolog (Drosophila), functional spliceosome-associated protein 24 FLJ23445, NIF3L1BP1, fSAP24 Yes No Ensembl:ENSG00000163634, GeneCard:THOC7, HGNC:HGNC:29874, HumanCyc Gene:HS15092, NCBI Gene:80145, OMIM:611965, RefSeq DNA:NT_022517, RefSeq Protein:NP_079351, RefSeq RNA:NM_025075, UniProtKB:Q6I9Y2 No chr3 63819546 63849597 63833870 63864478 +PA36505 7064 HGNC:11793 ENSG00000172009 thimet oligopeptidase 1 THOP1 Yes No Comparative Toxicogenomics Database:7064, Ensembl:ENSG00000172009, GenAtlas:THOP1, GeneCard:THOP1, HGNC:HGNC:11793, HumanCyc Gene:HS10433, ModBase:P52888, NCBI Gene:7064, OMIM:601117, RefSeq DNA:NT_011255, RefSeq Protein:NP_003240, RefSeq RNA:NM_003249, UCSC Genome Browser:NM_003249, UniProtKB:P52888 No chr19 2785464 2813599 2785460 2813604 +PA36506 7066 HGNC:11795 ENSG00000090534 thrombopoietin THPO MPL ligand, c-mpl ligand, megakaryocyte colony-stimulating factor, megakaryocyte growth and development factor, megakaryocyte stimulating factor, myeloproliferative leukemia virus oncogene ligand, prepro-thrombopoietin, thrombopoietin nirs, thrombopoietin nirs variant 1 MGDF, MPLLG, TPO Yes No Comparative Toxicogenomics Database:7066, Ensembl:ENSG00000090534, GenAtlas:THPO, GeneCard:THPO, HGNC:HGNC:11795, HumanCyc Gene:HS01694, ModBase:P40225, NCBI Gene:7066, OMIM:187950, OMIM:600044, RefSeq DNA:NG_012136, RefSeq DNA:NT_005612, RefSeq Protein:NP_000451, RefSeq Protein:NP_001171068, RefSeq Protein:NP_001171069, RefSeq RNA:NM_000460, RefSeq RNA:NM_001177597, RefSeq RNA:NM_001177598, UCSC Genome Browser:NM_000460, UniProtKB:P40225, UniProtKB:Q5FBX8 No chr3 184089773 184097368 184371935 184379688 +PA36507 7067 HGNC:11796 ENSG00000126351 thyroid hormone receptor alpha THRA """c-erbA protooncogene"", ""nuclear receptor subfamily 1 group A member 1"", ""thyroid hormone receptor, alpha""" AR7, EAR-7.1/EAR-7.2, ERBA, ERBA1, NR1A1, THRA1, THRA2, THRA3, THRalpha, THRalpha1, THRalpha2, TRalpha, TRalpha1, TRalpha2, c-ERBA-1, c-erbA Yes Yes Comparative Toxicogenomics Database:7067, Ensembl:ENSG00000126351, GenAtlas:THRA, GeneCard:THRA, HGNC:HGNC:11796, HumanCyc Gene:HS05012, ModBase:P10827, NCBI Gene:7067, OMIM:190120, RefSeq DNA:NG_023345, RefSeq DNA:NT_010783, RefSeq Protein:NP_001177847, RefSeq Protein:NP_001177848, RefSeq Protein:NP_003241, RefSeq Protein:NP_955366, RefSeq RNA:NM_001190918, RefSeq RNA:NM_001190919, RefSeq RNA:NM_003250, RefSeq RNA:NM_199334, UCSC Genome Browser:NM_003250, UniProtKB:P10827, UniProtKB:Q6FH41 No chr17 38218446 38250120 40062193 40093867 +PA134893249 9967 HGNC:22964 ENSG00000054118 thyroid hormone receptor associated protein 3 THRAP3 """BCLAF1 and THRAP3 family member 2"", ""TR-associated protein, 150-kDa""" BCLAF2, TRAP150 Yes No Ensembl:ENSG00000054118, GeneCard:THRAP3, HGNC:HGNC:22964, HumanCyc Gene:HS00664, NCBI Gene:9967, OMIM:603809, RefSeq DNA:NT_032977, RefSeq Protein:NP_005110, RefSeq RNA:NM_005119, UniProtKB:Q9Y2W1 No chr1 36690017 36770958 36224412 36305357 +PA36508 7068 HGNC:11799 ENSG00000151090 thyroid hormone receptor beta THRB """avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""generalized resistance to thyroid hormone"", ""nuclear receptor subfamily 1 group A member 2"", ""oncogene ERBA2"", ""thyroid hormone receptor beta 1"", ""thyroid hormone receptor, beta""" ERBA-BETA, ERBA2, GRTH, NR1A2, PRTH, THR1, THRB1, THRB2, THRbeta, THRbeta1, TRb, TRbeta, TRbeta1, Thrbeta2, c-erbA-2, c-erbA-beta Yes Yes Comparative Toxicogenomics Database:7068, Ensembl:ENSG00000151090, GenAtlas:PRTH, GenAtlas:THRB, GeneCard:PRTH, GeneCard:THRB, HGNC:HGNC:11799, HumanCyc Gene:HS07706, ModBase:P10828, ModBase:P37243, NCBI Gene:7068, OMIM:145650, OMIM:188570, OMIM:190160, OMIM:274300, RefSeq DNA:NG_009159, RefSeq DNA:NT_022517, RefSeq Protein:NP_000452, RefSeq Protein:NP_001121648, RefSeq Protein:NP_001121649, RefSeq RNA:NM_000461, RefSeq RNA:NM_001128176, RefSeq RNA:NM_001128177, UCSC Genome Browser:NM_000461, UniProtKB:P10828 No chr3 24158644 24536772 24117153 24495281 +PA36509 7069 HGNC:11800 ENSG00000151365 thyroid hormone responsive THRSP SPOT14 homolog (rat) LPGP1, Lpgp, S14, SPOT14, THRP Yes No Comparative Toxicogenomics Database:7069, Ensembl:ENSG00000151365, GenAtlas:LPGP1, GenAtlas:THRSP, GeneCard:LPGP1, GeneCard:THRSP, HGNC:HGNC:11800, HumanCyc Gene:HS07728, ModBase:Q92748, NCBI Gene:7069, OMIM:601926, RefSeq DNA:NT_167190, RefSeq Protein:NP_003242, RefSeq RNA:NM_003251, UCSC Genome Browser:NM_003251, UniProtKB:Q92748 No chr11 77774907 77779403 78063861 78068357 +PA134937912 55901 HGNC:17754 ENSG00000136114 thrombospondin type 1 domain containing 1 THSD1 thrombospondin, type I, domain containing 1 TMTSP Yes No Comparative Toxicogenomics Database:55901, Ensembl:ENSG00000136114, GeneCard:THSD1, HGNC:HGNC:17754, HumanCyc Gene:HS06114, ModBase:Q9NS62, NCBI Gene:55901, RefSeq DNA:NT_024524, RefSeq Protein:NP_061146, RefSeq Protein:NP_954872, RefSeq RNA:NM_018676, RefSeq RNA:NM_199263, UniProtKB:B3KTY7, UniProtKB:Q9NS62 No chr13 52934506 52980629 52377167 52406494 +PA134938064 374500 HGNC:31375 ENSG00000285160 thrombospondin, type I, domain containing 1 pseudogene 1 THSD1P1 Yes No Ensembl:ENSG00000285160, HGNC:HGNC:31375, NCBI Gene:374500, RefSeq DNA:NT_024524, RefSeq RNA:NR_002816 No chr13 52741854 52742456 52167719 52168321 +PA143485631 79875 HGNC:25835 ENSG00000187720 thrombospondin type 1 domain containing 4 THSD4 thrombospondin, type I, domain containing 4 ADAMTSL6, FLJ13710, FVSY9334, PRO34005 Yes No Ensembl:ENSG00000187720, GeneCard:THSD4, HGNC:HGNC:25835, ModBase:Q6ZMP0, NCBI Gene:79875, RefSeq DNA:NT_010194, RefSeq Protein:NP_079093, RefSeq RNA:NM_024817, UniProtKB:Q6ZMP0 No chr15 71407935 72075722 71115616 71783383 +PA162405715 221981 HGNC:22207 ENSG00000005108 thrombospondin type 1 domain containing 7A THSD7A thrombospondin, type I, domain containing 7A KIAA0960 Yes Yes Ensembl:ENSG00000005108, GeneCard:THSD7A, HGNC:HGNC:22207, NCBI Gene:221981, OMIM:612249, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_056019, RefSeq RNA:NM_015204, UniProtKB:Q9UPZ6 No chr7 11410062 11871824 11370435 11832198 +PA162405776 80731 HGNC:29348 ENSG00000144229 thrombospondin type 1 domain containing 7B THSD7B thrombospondin, type I, domain containing 7B KIAA1679 Yes Yes Ensembl:ENSG00000144229, GeneCard:THSD7B, HGNC:HGNC:29348, NCBI Gene:80731, RefSeq DNA:NT_022135, RefSeq Protein:NP_001073896, RefSeq RNA:NM_001080427 No chr2 137639718 138435287 136765562 137677712 +PA166181671 111644133 HGNC:53785 ENSG00000284491 thrombospondin type 1 domain containing 8 THSD8 Yes No Ensembl:ENSG00000284491, HGNC:HGNC:53785, NCBI Gene:111644133 No 0 0 0 0 +PA38774 79178 HGNC:18987 ENSG00000259431 thiamine triphosphatase THTPA THTPASE Yes No Ensembl:ENSG00000259431, GenAtlas:THTPA, GeneCard:THTPA, HGNC:HGNC:18987, HumanCyc Gene:HS08198, ModBase:Q9BU02, NCBI Gene:79178, OMIM:611612, RefSeq DNA:NT_026437, RefSeq Protein:NP_001119811, RefSeq Protein:NP_077304, RefSeq RNA:NM_001126339, RefSeq RNA:NM_024328, RefSeq RNA:NR_023314, UCSC Genome Browser:NM_024328, UniProtKB:Q9BU02 No chr14 23980969 24028790 23511760 23559581 +PA134983093 55623 HGNC:23807 ENSG00000066654 THUMP domain containing 1 THUMPD1 FLJ20274, Tan1 Yes No Comparative Toxicogenomics Database:55623, Ensembl:ENSG00000066654, GeneCard:THUMPD1, HGNC:HGNC:23807, HumanCyc Gene:HS12182, ModBase:Q9NXG2, NCBI Gene:55623, RefSeq DNA:NT_010393, RefSeq Protein:NP_060206, RefSeq RNA:NM_017736, UniProtKB:Q6MZT3, UniProtKB:Q9NXG2 No chr16 20732498 20753405 20730255 20741964 +PA134976355 80745 HGNC:14890 ENSG00000138050 THUMP domain containing 2 THUMPD2 C2orf8, MGC2454 Yes No Ensembl:ENSG00000138050, GeneCard:THUMPD2, HGNC:HGNC:14890, HumanCyc Gene:HS06442, ModBase:Q9BTF0, NCBI Gene:80745, OMIM:611751, RefSeq DNA:NT_022184, RefSeq Protein:NP_079540, RefSeq RNA:NM_025264, RefSeq RNA:NR_028102, UniProtKB:Q9BTF0 No chr2 39963200 40006416 39736060 39779276 +PA134969445 25917 HGNC:24493 ENSG00000134077 THUMP domain containing 3 THUMPD3 DKFZP434F091 Yes No Comparative Toxicogenomics Database:25917, Ensembl:ENSG00000134077, GeneCard:THUMPD3, HGNC:HGNC:24493, HumanCyc Gene:HS05816, ModBase:Q9BV44, NCBI Gene:25917, RefSeq DNA:NT_022517, RefSeq Protein:NP_001107564, RefSeq Protein:NP_056268, RefSeq RNA:NM_001114092, RefSeq RNA:NM_015453, UniProtKB:Q9BV44 No chr3 9404660 9428475 9362842 9386791 +PA36510 7070 HGNC:11801 ENSG00000154096 Thy-1 cell surface antigen THY1 CD90 Yes No Comparative Toxicogenomics Database:7070, Ensembl:ENSG00000154096, GenAtlas:THY1, GeneCard:THY1, HGNC:HGNC:11801, HumanCyc Gene:HS07948, ModBase:P04216, NCBI Gene:7070, OMIM:188230, RefSeq DNA:NT_033899, RefSeq Protein:NP_006279, RefSeq RNA:NM_006288, UCSC Genome Browser:NM_006288, UniProtKB:B0YJA4, UniProtKB:P04216 No chr11 119288655 119294246 119417941 119424985 +PA128394653 29087 HGNC:29560 ENSG00000151500 thymocyte nuclear protein 1 THYN1 THY28 Yes No Comparative Toxicogenomics Database:29087, Ensembl:ENSG00000151500, GeneCard:THYN1, HGNC:HGNC:29560, HumanCyc Gene:HS14371, ModBase:Q9P016, NCBI Gene:29087, RefSeq DNA:NT_033899, RefSeq Protein:NP_001032381, RefSeq Protein:NP_001032382, RefSeq Protein:NP_054893, RefSeq Protein:NP_954994, RefSeq Protein:NP_954995, RefSeq RNA:NM_001037304, RefSeq RNA:NM_001037305, RefSeq RNA:NM_014174, RefSeq RNA:NM_199297, RefSeq RNA:NM_199298, UCSC Genome Browser:NM_014174, UniProtKB:Q9P016 No chr11 134118172 134123289 134248278 134253401 +PA36511 7072 HGNC:11802 ENSG00000116001 TIA1 cytotoxic granule associated RNA binding protein TIA1 T-cell-restricted intracellular antigen-1, TIA1 cytotoxic granule-associated RNA binding protein, nucleolysin TIA-1 isoform p40 TIA-1 Yes No Comparative Toxicogenomics Database:7072, Ensembl:ENSG00000116001, GenAtlas:TIA1, GeneCard:TIA1, HGNC:HGNC:11802, HumanCyc Gene:HS03966, ModBase:P31483, NCBI Gene:7072, OMIM:603518, RefSeq DNA:NT_022184, RefSeq Protein:NP_071320, RefSeq Protein:NP_071505, RefSeq RNA:NM_022037, RefSeq RNA:NM_022173, UCSC Genome Browser:NM_022037, UniProtKB:P31483 No chr2 70436576 70475886 70209444 70248793 +PA36512 9220 HGNC:11803 ENSG00000221995 TGFB1-induced anti-apoptotic factor 1 TIAF1 Yes No Ensembl:ENSG00000221995, GenAtlas:TIAF1, GeneCard:TIAF1, HGNC:HGNC:11803, NCBI Gene:9220, OMIM:609517, RefSeq DNA:NT_010799, RefSeq Protein:NP_004731, RefSeq RNA:NM_004740, UCSC Genome Browser:NM_004740, UniProtKB:O95411 No chr17 27400539 27402627 29073521 29075609 +PA36513 7073 HGNC:11804 ENSG00000151923 TIA1 cytotoxic granule associated RNA binding protein like 1 TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1, TIA1 related TIAR Yes No Comparative Toxicogenomics Database:7073, Ensembl:ENSG00000151923, GenAtlas:TIAL1, GeneCard:TIAL1, HGNC:HGNC:11804, HumanCyc Gene:HS07780, ModBase:Q01085, NCBI Gene:7073, OMIM:603413, RefSeq DNA:NT_030059, RefSeq Protein:NP_001029097, RefSeq Protein:NP_003243, RefSeq RNA:NM_001033925, RefSeq RNA:NM_003252, UCSC Genome Browser:NM_003252, UniProtKB:A8K4L9, UniProtKB:Q01085, UniProtKB:Q49AS9 No chr10 121332977 121356541 119573465 119597247 +PA36514 7074 HGNC:11805 ENSG00000156299 TIAM Rac1 associated GEF 1 TIAM1 T cell lymphoma invasion and metastasis 1, T-cell lymphoma invasion and metastasis 1 Yes No Comparative Toxicogenomics Database:7074, Ensembl:ENSG00000156299, GenAtlas:TIAM1, GeneCard:TIAM1, HGNC:HGNC:11805, HumanCyc Gene:HS08117, ModBase:Q13009, NCBI Gene:7074, OMIM:600687, RefSeq DNA:NT_011512, RefSeq Protein:NP_003244, RefSeq RNA:NM_003253, UCSC Genome Browser:NM_003253, UniProtKB:Q13009 No chr21 32490736 32931290 31118418 31559977 +PA36515 26230 HGNC:11806 ENSG00000146426 TIAM Rac1 associated GEF 2 TIAM2 Sif and Tiam1-like exchange factor, T cell lymphoma invasion and metastasis 2, T-cell lymphoma invasion and metastasis 2 STEF Yes No Comparative Toxicogenomics Database:26230, Ensembl:ENSG00000146426, GenAtlas:TIAM2, GeneCard:TIAM2, HGNC:HGNC:11806, HumanCyc Gene:HS07350, ModBase:Q8IVF5, NCBI Gene:26230, OMIM:604709, RefSeq DNA:NT_025741, RefSeq Protein:NP_001010927, RefSeq Protein:NP_036586, RefSeq RNA:NM_001010927, RefSeq RNA:NM_012454, UCSC Genome Browser:NM_012454, UniProtKB:B3KW11, UniProtKB:Q8IVF5 No chr6 155316488 155578857 155090289 155257723 +PA142670812 148022 HGNC:18348 ENSG00000127666 TIR domain containing adaptor molecule 1 TICAM1 """TIR domain-containing adapter molecule 1"", ""TIR domain-containing adaptor-inducing interferon-beta"", ""proline-rich, vinculin and TIR domain-containing protein B"", ""toll like receptor adaptor molecule 1"", ""toll-like receptor adaptor molecule 1""" MGC35334, PRVTIRB, TICAM-1, TRIF Yes No Comparative Toxicogenomics Database:148022, Ensembl:ENSG00000127666, GeneCard:TICAM1, HGNC:HGNC:18348, ModBase:Q8IUC6, NCBI Gene:148022, OMIM:607601, RefSeq DNA:NT_011255, RefSeq Protein:NP_891549, RefSeq RNA:NM_182919, UniProtKB:Q8IUC6 No chr19 4815936 4831754 4815924 4831742 +PA134881157 353376 HGNC:21354 ENSG00000243414 TIR domain containing adaptor molecule 2 TICAM2 Trif-related adapter molecule, toll like receptor adaptor molecule 2, toll-like receptor adaptor molecule 2 TICAM-2, TIRP, TRAM Yes No Ensembl:ENSG00000243414, GeneCard:TICAM2, HGNC:HGNC:21354, ModBase:Q86XR7, NCBI Gene:353376, OMIM:608321, RefSeq DNA:NT_034772, RefSeq Protein:NP_067681, RefSeq RNA:NM_021649, UniProtKB:Q86XR7 No chr5 114914339 114952142 115578496 115602479 +PA142672278 90381 HGNC:28704 ENSG00000140534 TOPBP1 interacting checkpoint and replication regulator TICRR SLD3 homolog (S. cerevisiae), TOPBP1-interacting checkpoint and replication regulator, TOPBP1-interacting replication-stimulating protein C15orf42, FLJ41618, MGC45866, SLD3, Treslin Yes No Ensembl:ENSG00000140534, GeneCard:C15orf42, HGNC:HGNC:28704, HumanCyc Gene:HS13838, ModBase:Q7Z2Z1, NCBI Gene:90381, OMIM:613298, RefSeq DNA:NT_010274, RefSeq Protein:NP_689472, RefSeq RNA:NM_152259, UniProtKB:Q7Z2Z1 No chr15 90118818 90171254 89575587 89628023 +PA36516 7075 HGNC:11809 ENSG00000066056 tyrosine kinase with immunoglobulin like and EGF like domains 1 TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 JTK14, TIE Yes No Comparative Toxicogenomics Database:7075, Ensembl:ENSG00000066056, GenAtlas:TIE1, GeneCard:TIE1, HGNC:HGNC:11809, HumanCyc Gene:HS00865, ModBase:P35590, NCBI Gene:7075, OMIM:600222, RefSeq DNA:NT_032977, RefSeq Protein:NP_005415, RefSeq RNA:NM_005424, UCSC Genome Browser:NM_005424, UniProtKB:P35590 No chr1 43766566 43788781 43300895 43323110 +PA162405777 92610 HGNC:19075 ENSG00000145365 TRAF interacting protein with forkhead associated domain TIFA TRAF-interacting protein with forkhead-associated domain, TRAF2 binding protein, TRAF6 binding protein MGC20791, T2BP, T6BP, TIFAA Yes No Ensembl:ENSG00000145365, GeneCard:TIFA, HGNC:HGNC:19075, ModBase:Q96CG3, NCBI Gene:92610, OMIM:609028, RefSeq DNA:NT_016354, RefSeq Protein:NP_443096, RefSeq RNA:NM_052864, UniProtKB:Q96CG3 No chr4 113196782 113207059 112275626 112285903 +PA162405786 497189 HGNC:34024 ENSG00000255833 TIFA inhibitor TIFAB TRAF-interacting protein with forkhead-associated domain, family member B Yes No Ensembl:ENSG00000255833, GeneCard:TIFAB, HGNC:HGNC:34024, ModBase:Q6ZNK6, NCBI Gene:497189, OMIM:612663, RefSeq DNA:NT_034772, RefSeq Protein:NP_001092691, RefSeq RNA:NM_001099221, UniProtKB:Q6ZNK6 No chr5 134784558 134788089 135448868 135452399 +PA25506 57103 HGNC:1185 ENSG00000078237 TP53 induced glycolysis regulatory phosphatase TIGAR TP53-induced glycolysis and apoptosis regulator, chromosome 12 open reading frame 5 C12orf5, TIGAR Yes No Comparative Toxicogenomics Database:57103, Ensembl:ENSG00000078237, GenAtlas:C12orf5, GeneCard:C12orf5, HGNC:HGNC:1185, HumanCyc Gene:HS01277, ModBase:Q9NQ88, NCBI Gene:57103, OMIM:610775, RefSeq DNA:NT_009759, RefSeq Protein:NP_065108, RefSeq RNA:NM_020375, UCSC Genome Browser:NM_020375, UniProtKB:Q9NQ88 No chr12 4430359 4469194 4321193 4360028 +PA38382 200765 HGNC:14523 ENSG00000221944 tigger transposable element derived 1 TIGD1 EEYORE Yes Yes Comparative Toxicogenomics Database:200765, Ensembl:ENSG00000221944, GenAtlas:TIGD1, GeneCard:TIGD1, HGNC:HGNC:14523, ModBase:Q96MW7, NCBI Gene:200765, OMIM:612972, RefSeq DNA:NT_005403, RefSeq Protein:NP_663748, RefSeq RNA:NM_145702, UCSC Genome Browser:NM_145702, UniProtKB:Q96MW7 No chr2 233412779 233415226 232547970 232550590 +PA38526 166815 HGNC:18333 ENSG00000180346 tigger transposable element derived 2 TIGD2 Yes No Comparative Toxicogenomics Database:166815, Ensembl:ENSG00000180346, GenAtlas:TIGD2, GeneCard:TIGD2, HGNC:HGNC:18333, HumanCyc Gene:HS17485, ModBase:Q4W5G0, NCBI Gene:166815, OMIM:612973, RefSeq DNA:NT_016354, RefSeq Protein:NP_663761, RefSeq RNA:NM_145715, UCSC Genome Browser:NM_145715, UniProtKB:B3KNK0, UniProtKB:Q4W5G0 No chr4 90032651 90036734 89112817 89114901 +PA38527 220359 HGNC:18334 ENSG00000173825 tigger transposable element derived 3 TIGD3 Yes No Ensembl:ENSG00000173825, GenAtlas:TIGD3, GeneCard:TIGD3, HGNC:HGNC:18334, HumanCyc Gene:HS16259, ModBase:Q6B0B8, NCBI Gene:220359, RefSeq DNA:NT_167190, RefSeq Protein:NP_663771, RefSeq RNA:NM_145719, UCSC Genome Browser:NM_145719, UniProtKB:Q6B0B8 No chr11 65122282 65125084 65354811 65357613 +PA38528 201798 HGNC:18335 ENSG00000169989 tigger transposable element derived 4 TIGD4 Yes No Ensembl:ENSG00000169989, GenAtlas:TIGD4, GeneCard:TIGD4, HGNC:HGNC:18335, HumanCyc Gene:HS10051, ModBase:Q8IY51, NCBI Gene:201798, RefSeq DNA:NT_016354, RefSeq Protein:NP_663772, RefSeq RNA:NM_145720, UCSC Genome Browser:NM_145720, UniProtKB:Q8IY51 No chr4 153689837 153700916 152768716 152779778 +PA38529 84948 HGNC:18336 ENSG00000179886 tigger transposable element derived 5 TIGD5 FLJ14926 Yes No Ensembl:ENSG00000179886, GenAtlas:TIGD5, GeneCard:TIGD5, HGNC:HGNC:18336, HumanCyc Gene:HS11421, ModBase:Q53EQ6, NCBI Gene:84948, RefSeq DNA:NT_008046, RefSeq Protein:NP_116251, RefSeq RNA:NM_032862, UCSC Genome Browser:NM_032862 No chr8 144680074 144682485 143597904 143600315 +PA38525 81789 HGNC:18332 ENSG00000164296 tigger transposable element derived 6 TIGD6 DKFZp761E2110 Yes No Ensembl:ENSG00000164296, GenAtlas:TIGD6, GeneCard:TIGD6, HGNC:HGNC:18332, HumanCyc Gene:HS09056, ModBase:Q17RP2, NCBI Gene:81789, RefSeq DNA:NT_029289, RefSeq Protein:NP_112215, RefSeq RNA:NM_030953, RefSeq RNA:NR_038363, UCSC Genome Browser:NM_030953, UniProtKB:Q17RP2 No chr5 149372686 149380730 149993123 150001167 +PA38524 91151 HGNC:18331 ENSG00000140993 tigger transposable element derived 7 TIGD7 Sancho Yes No Ensembl:ENSG00000140993, GenAtlas:TIGD7, GeneCard:TIGD7, HGNC:HGNC:18331, HumanCyc Gene:HS06788, ModBase:Q6NT04, NCBI Gene:91151, OMIM:612969, RefSeq DNA:NT_010393, RefSeq Protein:NP_149985, RefSeq RNA:NM_033208, UCSC Genome Browser:NM_033208, UniProtKB:Q6NT04 No chr16 3348808 3355439 3298808 3305439 +PA164726482 201633 HGNC:26838 ENSG00000181847 T cell immunoreceptor with Ig and ITIM domains TIGIT DKFZp667A205, FLJ39873, VSIG9, VSTM3 Yes No Ensembl:ENSG00000181847, GeneCard:TIGIT, HGNC:HGNC:26838, HumanCyc Gene:HS17740, ModBase:Q495A1, NCBI Gene:201633, OMIM:612859, RefSeq DNA:NT_005612, RefSeq Protein:NP_776160, RefSeq RNA:NM_173799, UniProtKB:Q495A1 No chr3 114012833 114029135 114293986 114310288 +PA134989118 91937 HGNC:25132 ENSG00000145850 T cell immunoglobulin and mucin domain containing 4 TIMD4 T-cell immunoglobulin and mucin domain containing 4 TIM4 Yes No Ensembl:ENSG00000145850, GeneCard:TIMD4, HGNC:HGNC:25132, HumanCyc Gene:HS14113, ModBase:Q96H15, NCBI Gene:91937, OMIM:610096, RefSeq DNA:NT_023133, RefSeq Protein:NP_001140198, RefSeq Protein:NP_612388, RefSeq RNA:NM_001146726, RefSeq RNA:NM_138379, UniProtKB:B5MCL9, UniProtKB:Q96H15 No chr5 156346293 156390266 156915750 156963255 +PA36520 8914 HGNC:11813 ENSG00000111602 timeless circadian regulator TIMELESS Tof1 homolog (S. cerevisiae), timeless circadian clock, timeless circadian clock 1 TIM, TIM1, hTIM Yes No Comparative Toxicogenomics Database:8914, Ensembl:ENSG00000111602, GenAtlas:TIMELESS, GeneCard:TIMELESS, HGNC:HGNC:11813, HumanCyc Gene:HS03428, ModBase:Q9UNS1, NCBI Gene:8914, OMIM:603887, RefSeq DNA:NT_029419, RefSeq Protein:NP_003911, RefSeq RNA:NM_003920, UCSC Genome Browser:NM_003920, UniProtKB:Q9UNS1 No chr12 56810157 56843200 56416373 56449416 +PA36521 26519 HGNC:11814 ENSG00000134809 translocase of inner mitochondrial membrane 10 TIMM10 translocase of inner mitochondrial membrane 10 homolog (yeast) TIM10, TIM10A, TIMM10A Yes No Ensembl:ENSG00000134809, GenAtlas:TIMM10, GeneCard:TIMM10, HGNC:HGNC:11814, HumanCyc Gene:HS05913, ModBase:P62072, NCBI Gene:26519, OMIM:602251, RefSeq DNA:NT_167190, RefSeq Protein:NP_036588, RefSeq RNA:NM_012456, UCSC Genome Browser:NM_012456, UniProtKB:P62072 No chr11 57295936 57298232 57528463 57530759 +PA28438 26515 HGNC:4022 ENSG00000132286 translocase of inner mitochondrial membrane 10B TIMM10B translocase of inner mitochondrial membrane 10 homolog B (yeast) FXC1, TIM10B, Tim9b Yes No Comparative Toxicogenomics Database:26515, Ensembl:ENSG00000132286, GenAtlas:FXC1, GeneCard:FXC1, HGNC:HGNC:4022, HumanCyc Gene:HS05612, ModBase:Q9Y5J6, NCBI Gene:26515, OMIM:607388, RefSeq DNA:NT_009237, RefSeq Protein:NP_036324, RefSeq RNA:NM_012192, UCSC Genome Browser:NM_012192, UniProtKB:B2R4A9, UniProtKB:Q9Y5J6 No chr11 6502677 6506109 6481447 6484681 +PA36522 26517 HGNC:11816 ENSG00000099800 translocase of inner mitochondrial membrane 13 TIMM13 translocase of inner mitochondrial membrane 13 homolog (yeast) TIMM13B, Tim13 Yes No Comparative Toxicogenomics Database:26517, Ensembl:ENSG00000099800, GenAtlas:TIMM13, GeneCard:TIMM13, HGNC:HGNC:11816, HumanCyc Gene:HS01910, ModBase:Q9Y5L4, NCBI Gene:26517, OMIM:607383, RefSeq DNA:NT_011255, RefSeq Protein:NP_036590, RefSeq RNA:NM_012458, UCSC Genome Browser:NM_012458, UniProtKB:Q9Y5L4 No chr19 2425622 2427914 2425624 2427916 +PA38228 10440 HGNC:17315 ENSG00000134375 translocase of inner mitochondrial membrane 17A TIMM17A translocase of inner mitochondrial membrane 17 homolog A (yeast) TIM17, TIM17A Yes No Comparative Toxicogenomics Database:10440, Ensembl:ENSG00000134375, GenAtlas:TIMM17A, GeneCard:TIMM17A, HGNC:HGNC:17315, HumanCyc Gene:HS05863, ModBase:Q99595, NCBI Gene:10440, OMIM:605057, RefSeq DNA:NT_004487, RefSeq Protein:NP_006326, RefSeq RNA:NM_006335, UCSC Genome Browser:NM_006335, UniProtKB:Q99595 No chr1 201924619 201939789 201955491 201970661 +PA38226 10245 HGNC:17310 ENSG00000126768 translocase of inner mitochondrial membrane 17B TIMM17B translocase of inner mitochondrial membrane 17 homolog B (yeast) DXS9822, JM3 Yes No Comparative Toxicogenomics Database:10245, Ensembl:ENSG00000126768, GenAtlas:TIMM17B, GeneCard:TIMM17B, HGNC:HGNC:17310, HumanCyc Gene:HS05046, ModBase:O60830, NCBI Gene:10245, OMIM:300249, RefSeq DNA:NG_015968, RefSeq DNA:NT_079573, RefSeq Protein:NP_001161419, RefSeq Protein:NP_005825, RefSeq RNA:NM_001167947, RefSeq RNA:NM_005834, UCSC Genome Browser:NM_005834, UniProtKB:O60830 No chrX 48750730 48755489 48893447 48898143 +PA134897360 29090 HGNC:25010 ENSG00000075336 translocase of inner mitochondrial membrane 21 TIMM21 translocase of inner mitochondrial membrane 21 homolog (yeast) C18orf55, HSPC154, TIM21 Yes No Ensembl:ENSG00000075336, GeneCard:C18orf55, HGNC:HGNC:25010, HumanCyc Gene:HS12236, ModBase:Q9BVV7, NCBI Gene:29090, RefSeq DNA:NT_025028, RefSeq Protein:NP_054896, RefSeq RNA:NM_014177, UniProtKB:A8K1K8, UniProtKB:Q9BVV7 No chr18 71815746 71826204 74148511 74158969 +PA38230 29928 HGNC:17317 ENSG00000177370 translocase of inner mitochondrial membrane 22 TIMM22 translocase of inner mitochondrial membrane 22 homolog (yeast) TEX4, TIM22 Yes No Comparative Toxicogenomics Database:29928, Ensembl:ENSG00000177370, GenAtlas:TIMM22, GeneCard:TIMM22, HGNC:HGNC:17317, HumanCyc Gene:HS11160, ModBase:Q9Y584, NCBI Gene:29928, OMIM:607251, RefSeq DNA:NT_010718, RefSeq Protein:NP_037469, RefSeq RNA:NM_013337, UCSC Genome Browser:NM_013337, UniProtKB:Q9Y584 No chr17 900357 905407 997117 1002167 +PA38227 100287932 HGNC:17312 ENSG00000265354 translocase of inner mitochondrial membrane 23 TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast) TIM23 Yes No Comparative Toxicogenomics Database:10431, Ensembl:ENSG00000265354, GenAtlas:TIMM23, GeneCard:TIMM23, HGNC:HGNC:17312, ModBase:O14925, NCBI Gene:100287932, OMIM:605034, RefSeq DNA:NT_030059, RefSeq Protein:NP_006318, RefSeq Protein:XP_002343027, RefSeq Protein:XP_002343028, RefSeq RNA:NM_006327, RefSeq RNA:XM_002342986, RefSeq RNA:XM_002342987, UCSC Genome Browser:NM_006327, UniProtKB:B1APJ0, UniProtKB:O14925 No chr10 51592080 51623386 45972453 46003742 +PA134877974 100652748 HGNC:23581 ENSG00000204152 translocase of inner mitochondrial membrane 23 homolog B TIMM23B translocase of inner mitochondrial membrane 23 homolog B (yeast) bA592B15.7 Yes No Ensembl:ENSG00000204152, GeneCard:TIMM23B, HGNC:HGNC:23581, ModBase:Q5SRD1, NCBI Gene:100652748, RefSeq Protein:XP_001715266, RefSeq Protein:XP_003119000, RefSeq RNA:XM_001715214, RefSeq RNA:XM_003118952 No chr10 121253 153870 49942033 49988221 +PA147358399 90580 HGNC:25152 ENSG00000142444 translocase of inner mitochondrial membrane 29 TIMM29 chromosome 19 open reading frame 52 C19orf52, TIM29 Yes No Ensembl:ENSG00000142444, GeneCard:C19orf52, HGNC:HGNC:25152, HumanCyc Gene:HS13924, ModBase:Q9BSF4, NCBI Gene:90580, RefSeq DNA:NT_011295, RefSeq Protein:NP_612367, RefSeq RNA:NM_138358, UniProtKB:Q9BSF4 No chr19 11039424 11040917 10928748 10930241 +PA38229 10469 HGNC:17316 ENSG00000104980 translocase of inner mitochondrial membrane 44 TIMM44 translocase of inner mitochondrial membrane 44 homolog (yeast) TIM44 Yes No Ensembl:ENSG00000104980, GenAtlas:TIMM44, GeneCard:TIMM44, HGNC:HGNC:17316, HumanCyc Gene:HS02669, ModBase:O43615, NCBI Gene:10469, OMIM:605058, RefSeq DNA:NT_077812, RefSeq Protein:NP_006342, RefSeq RNA:NM_006351, UCSC Genome Browser:NM_006351, UniProtKB:O43615 No chr19 7991603 8008708 7926718 7943823 +PA134902846 92609 HGNC:23656 ENSG00000105197 translocase of inner mitochondrial membrane 50 TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) TIM50, TIM50L Yes No Ensembl:ENSG00000105197, GeneCard:TIMM50, HGNC:HGNC:23656, ModBase:Q3ZCQ8, NCBI Gene:92609, OMIM:607381, RefSeq DNA:NT_011109, RefSeq Protein:NP_001001563, RefSeq RNA:NM_001001563, UniProtKB:Q3ZCQ8 No chr19 39971052 39981528 39480412 39493019 +PA36523 1678 HGNC:11817 ENSG00000126953 translocase of inner mitochondrial membrane 8A TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) DDP, DFN1, MTS Yes No Comparative Toxicogenomics Database:1678, Ensembl:ENSG00000126953, GenAtlas:TIMM8A, GeneCard:TIMM8A, HGNC:HGNC:11817, HumanCyc Gene:HS05065, ModBase:O60220, NCBI Gene:1678, OMIM:300356, OMIM:304700, OMIM:311150, RefSeq DNA:NG_011734, RefSeq DNA:NT_011651, RefSeq Protein:NP_001139423, RefSeq Protein:NP_004076, RefSeq RNA:NM_001145951, RefSeq RNA:NM_004085, UCSC Genome Browser:NM_004085, UniProtKB:O60220 No chrX 100575548 100603957 101345656 101348969 +PA36524 26521 HGNC:11818 ENSG00000150779 translocase of inner mitochondrial membrane 8 homolog B TIMM8B mitochondrial import inner membrane translocase subunit Tim8 B, translocase of inner mitochondrial membrane 8 homolog B (yeast) DDP2, FLJ21744, MGC102866, MGC117373, TIM8B Yes No Comparative Toxicogenomics Database:26521, Ensembl:ENSG00000150779, GenAtlas:TIMM8B, GeneCard:TIMM8B, HGNC:HGNC:11818, HumanCyc Gene:HS07689, ModBase:Q9Y5J9, NCBI Gene:26521, OMIM:606659, RefSeq DNA:NG_012337, RefSeq DNA:NT_033899, RefSeq Protein:NP_036591, RefSeq RNA:NM_012459, RefSeq RNA:NR_028383, UCSC Genome Browser:NM_012459, UniProtKB:Q9Y5J9 No chr11 111955524 111957522 112084800 112086798 +PA36525 26520 HGNC:11819 ENSG00000100575 translocase of inner mitochondrial membrane 9 TIMM9 translocase of inner mitochondrial membrane 9 homolog (yeast) TIM9A Yes No Comparative Toxicogenomics Database:26520, Ensembl:ENSG00000100575, GenAtlas:TIMM9, GeneCard:TIMM9, HGNC:HGNC:11819, HumanCyc Gene:HS02113, ModBase:Q9Y5J7, NCBI Gene:26520, OMIM:607384, RefSeq DNA:NT_026437, RefSeq Protein:NP_036592, RefSeq RNA:NM_012460, UCSC Genome Browser:NM_012460, UniProtKB:Q9Y5J7 No chr14 58875370 58894232 58408494 58427614 +PA25900 51300 HGNC:1321 ENSG00000113845 translocase of inner mitochondrial membrane domain containing 1 TIMMDC1 C3orf1, FLJ22597 Yes No Ensembl:ENSG00000113845, GenAtlas:C3orf1, GeneCard:C3orf1, HGNC:HGNC:1321, HumanCyc Gene:HS12806, ModBase:Q9NPL8, NCBI Gene:51300, RefSeq DNA:NT_005612, RefSeq Protein:NP_057673, RefSeq RNA:NM_016589, UCSC Genome Browser:NM_016589, UniProtKB:Q9NPL8 No chr3 119217324 119243128 119498521 119524281 +PA36526 7076 HGNC:11820 ENSG00000102265 TIMP metallopeptidase inhibitor 1 TIMP1 CLGI, EPO, TIMP Yes No Comparative Toxicogenomics Database:7076, Ensembl:ENSG00000102265, GenAtlas:TIMP1, GeneCard:TIMP1, HGNC:HGNC:11820, HumanCyc Gene:HS02376, ModBase:P01033, NCBI Gene:7076, OMIM:305370, RefSeq DNA:NG_012533, RefSeq DNA:NT_079573, RefSeq Protein:NP_003245, RefSeq RNA:NM_003254, UCSC Genome Browser:NM_003254, UniProtKB:P01033, UniProtKB:Q6FGX5 No chrX 47441690 47446190 47582291 47586791 +PA36527 7077 HGNC:11821 ENSG00000035862 TIMP metallopeptidase inhibitor 2 TIMP2 CSC-21K Yes No Comparative Toxicogenomics Database:7077, Ensembl:ENSG00000035862, GenAtlas:TIMP2, GeneCard:TIMP2, HGNC:HGNC:11821, HumanCyc Gene:HS00512, ModBase:P16035, NCBI Gene:7077, OMIM:188825, RefSeq DNA:NT_010783, RefSeq Protein:NP_003246, RefSeq RNA:NM_003255, UCSC Genome Browser:NM_003255, UniProtKB:P16035 No chr17 76849059 76921472 78852977 78925390 +PA36528 7078 HGNC:11822 ENSG00000100234 TIMP metallopeptidase inhibitor 3 TIMP3 SFD Yes No Comparative Toxicogenomics Database:7078, Ensembl:ENSG00000100234, GenAtlas:TIMP3, GeneCard:TIMP3, HGNC:HGNC:11822, HumanCyc Gene:HS02012, ModBase:P35625, NCBI Gene:7078, OMIM:136900, OMIM:188826, RefSeq DNA:NG_009117, RefSeq DNA:NT_011520, RefSeq Protein:NP_000353, RefSeq RNA:NM_000362, UCSC Genome Browser:NM_000362, UniProtKB:P35625 No chr22 33196802 33259028 32800816 32863041 +PA36529 7079 HGNC:11823 ENSG00000157150 TIMP metallopeptidase inhibitor 4 TIMP4 Yes No Comparative Toxicogenomics Database:7079, Ensembl:ENSG00000157150, GenAtlas:TIMP4, GeneCard:TIMP4, HGNC:HGNC:11823, HumanCyc Gene:HS08184, ModBase:Q99727, NCBI Gene:7079, OMIM:601915, RefSeq DNA:NT_022517, RefSeq Protein:NP_003247, RefSeq RNA:NM_003256, UCSC Genome Browser:NM_003256, UniProtKB:Q99727 No chr3 12194568 12200851 12153068 12159351 +PA37905 27283 HGNC:14599 ENSG00000137251 tubulointerstitial nephritis antigen TINAG Yes No Comparative Toxicogenomics Database:27283, Ensembl:ENSG00000137251, GenAtlas:TINAG, GeneCard:TINAG, HGNC:HGNC:14599, HumanCyc Gene:HS06296, NCBI Gene:27283, OMIM:606749, RefSeq DNA:NT_007592, RefSeq Protein:NP_055279, RefSeq RNA:NM_014464, UCSC Genome Browser:NM_014464, UniProtKB:Q6NSC1, UniProtKB:Q9UJW2 No chr6 54173203 54254950 54307792 54390152 +PA38810 64129 HGNC:19168 ENSG00000142910 tubulointerstitial nephritis antigen like 1 TINAGL1 androgen regulated gene 1, tubulointerstitial nephritis antigen-like 1 ARG1, LCN7, LIECG3, P3ECSL, TINAGRP Yes No Comparative Toxicogenomics Database:64129, Ensembl:ENSG00000142910, GenAtlas:TINAGL1, GeneCard:TINAGL1, HGNC:HGNC:19168, HumanCyc Gene:HS06970, ModBase:Q9GZM7, NCBI Gene:64129, RefSeq DNA:NT_032977, RefSeq Protein:NP_001191343, RefSeq Protein:NP_001191344, RefSeq Protein:NP_071447, RefSeq RNA:NM_001204414, RefSeq RNA:NM_001204415, RefSeq RNA:NM_022164, UCSC Genome Browser:NM_022164, UniProtKB:Q9GZM7 No chr1 32042086 32053290 31576384 31587686 +PA33372 257000 HGNC:14607 ENSG00000223573 TINCR ubiquitin domain containing TINCR TINCR-encoded ubiquitin-like protein, long intergenic non-protein coding RNA 36, non-protein coding RNA 36, terminal differentiation-induced ncRNA, tissue differentiation-inducing non-protein coding RNA FLJ90734, LINC00036, NCRNA00036, PLAC2, TUBL, onco-lncRNA-16 Yes No Ensembl:ENSG00000223573, GenAtlas:PLAC2, GeneCard:PLAC2, HGNC:HGNC:14607, ModBase:Q8NBU9, NCBI Gene:257000, RefSeq DNA:NT_011255, RefSeq RNA:NM_001396408, UCSC Genome Browser:NM_153375 No chr19 5558178 5568005 5558167 5568034 +PA36530 26277 HGNC:11824 ENSG00000092330 TERF1 interacting nuclear factor 2 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 TIN2 Yes No Comparative Toxicogenomics Database:26277, Ensembl:ENSG00000092330, GenAtlas:TINF2, GeneCard:TINF2, HGNC:HGNC:11824, HumanCyc Gene:HS01768, ModBase:Q9BSI4, NCBI Gene:26277, OMIM:127550, OMIM:268130, OMIM:604319, RefSeq DNA:NG_016650, RefSeq DNA:NT_026437, RefSeq Protein:NP_001092744, RefSeq Protein:NP_036593, RefSeq RNA:NM_001099274, RefSeq RNA:NM_012461, UCSC Genome Browser:NM_012461, UniProtKB:Q9BSI4 No chr14 24703454 24712233 24239641 24242674 +PA134885396 25976 HGNC:23696 ENSG00000163659 TCDD inducible poly(ADP-ribose) polymerase TIPARP TCDD-inducible poly(ADP-ribose) polymerase ARTD14, DDF1, DKFZP434J214, DKFZp686N0351, PARP-1, PARP-7, PARP7, RM1, pART14 Yes No Comparative Toxicogenomics Database:25976, Ensembl:ENSG00000163659, GeneCard:TIPARP, HGNC:HGNC:23696, ModBase:Q7Z3E1, NCBI Gene:25976, OMIM:612480, RefSeq DNA:NT_005612, RefSeq Protein:NP_001171646, RefSeq Protein:NP_001171647, RefSeq Protein:NP_056323, RefSeq RNA:NM_001184717, RefSeq RNA:NM_001184718, RefSeq RNA:NM_015508, UniProtKB:Q7Z3E1 No chr3 156392205 156424559 156674416 156706770 +PA147357269 54962 HGNC:30750 ENSG00000075131 TIMELESS interacting protein TIPIN CSM3 homolog (S. cerevisiae) FLJ20516 Yes No Comparative Toxicogenomics Database:54962, Ensembl:ENSG00000075131, GeneCard:TIPIN, HGNC:HGNC:30750, HumanCyc Gene:HS12233, ModBase:Q9BVW5, NCBI Gene:54962, OMIM:610716, RefSeq DNA:NT_010194, RefSeq Protein:NP_060328, RefSeq RNA:NM_017858, UniProtKB:Q9BVW5 No chr15 66629008 66679074 66334976 66386787 +PA142670811 261726 HGNC:30231 ENSG00000143155 TOR signaling pathway regulator TIPRL TIP41, TOR signaling pathway regulator-like (S. cerevisiae) MGC3794, TIP41, TIPRL1, dJ69E11.3 Yes No Comparative Toxicogenomics Database:261726, Ensembl:ENSG00000143155, GeneCard:TIPRL, HGNC:HGNC:30231, HumanCyc Gene:HS13951, NCBI Gene:261726, OMIM:611807, RefSeq DNA:NT_004487, RefSeq Protein:NP_001026970, RefSeq Protein:NP_690866, RefSeq RNA:NM_001031800, RefSeq RNA:NM_152902, UniProtKB:O75663 No chr1 168148171 168171352 168178845 168202114 +PA134972842 114609 HGNC:17192 ENSG00000150455 TIR domain containing adaptor protein TIRAP MyD88 adapter-like, toll-interleukin 1 receptor (TIR) domain containing adaptor protein Mal, wyatt Yes Yes Comparative Toxicogenomics Database:114609, Ensembl:ENSG00000150455, GeneCard:TIRAP, HGNC:HGNC:17192, HumanCyc Gene:HS07668, ModBase:P58753, NCBI Gene:114609, OMIM:606252, OMIM:607948, OMIM:610799, OMIM:611162, RefSeq DNA:NG_011523, RefSeq DNA:NT_033899, RefSeq Protein:NP_001034750, RefSeq Protein:NP_683708, RefSeq RNA:NM_001039661, RefSeq RNA:NM_148910, UniProtKB:P58753, UniProtKB:Q56UH9 No chr11 126152800 126164828 126281268 126294933 +PA38268 93643 HGNC:17949 ENSG00000137221 tight junction associated protein 1 TJAP1 tight junction associated protein 1 (peripheral) PILT, TJP4 Yes No Comparative Toxicogenomics Database:93643, Ensembl:ENSG00000137221, GenAtlas:TJAP1, GeneCard:TJAP1, HGNC:HGNC:17949, HumanCyc Gene:HS13668, ModBase:Q5JTD0, NCBI Gene:93643, OMIM:612658, RefSeq DNA:NT_007592, RefSeq Protein:NP_001139488, RefSeq Protein:NP_001139489, RefSeq Protein:NP_001139490, RefSeq Protein:NP_001139491, RefSeq Protein:NP_001139492, RefSeq Protein:NP_542171, RefSeq RNA:NM_001146016, RefSeq RNA:NM_001146017, RefSeq RNA:NM_001146018, RefSeq RNA:NM_001146019, RefSeq RNA:NM_001146020, RefSeq RNA:NM_001394538, RefSeq RNA:NM_080604, UCSC Genome Browser:NM_080604, UniProtKB:Q5JTD0 No chr6 43445261 43474294 43477523 43506557 +PA36532 7082 HGNC:11827 ENSG00000104067 tight junction protein 1 TJP1 tight junction protein ZO-1, zona occludens 1 DKFZp686M05161, MGC133289, ZO-1 Yes Yes Comparative Toxicogenomics Database:7082, Ensembl:ENSG00000104067, GenAtlas:TJP1, GeneCard:TJP1, HGNC:HGNC:11827, HumanCyc Gene:HS02543, ModBase:Q07157, NCBI Gene:7082, OMIM:601009, RefSeq DNA:NT_010194, RefSeq Protein:NP_003248, RefSeq Protein:NP_783297, RefSeq RNA:NM_003257, RefSeq RNA:NM_175610, UCSC Genome Browser:NM_003257, UniProtKB:Q07157, UniProtKB:Q6MZU1 No chr15 29992338 30261038 29699367 29968919 +PA36533 9414 HGNC:11828 ENSG00000119139 tight junction protein 2 TJP2 Friedreich ataxia region gene X104 (tight junction protein ZO-2), zona occludens 2 DFNA51, X104, ZO-2, ZO2 Yes No Comparative Toxicogenomics Database:9414, Ensembl:ENSG00000119139, GenAtlas:TJP2, GeneCard:TJP2, HGNC:HGNC:11828, HumanCyc Gene:HS04278, ModBase:Q9UDY2, NCBI Gene:9414, OMIM:607709, OMIM:607748, RefSeq DNA:NG_016342, RefSeq DNA:NT_008470, RefSeq Protein:NP_001163885, RefSeq Protein:NP_001163886, RefSeq Protein:NP_001163887, RefSeq Protein:NP_001164101, RefSeq Protein:NP_004808, RefSeq Protein:NP_963923, RefSeq RNA:NM_001170414, RefSeq RNA:NM_001170415, RefSeq RNA:NM_001170416, RefSeq RNA:NM_001170630, RefSeq RNA:NM_004817, RefSeq RNA:NM_201629, UCSC Genome Browser:NM_004817, UniProtKB:A2A3H9, UniProtKB:B7Z2R3, UniProtKB:B7Z2R8, UniProtKB:B7Z7T6, UniProtKB:Q5VXL1, UniProtKB:Q9UDY2 No chr9 71714875 71870124 69099907 69255208 +PA36534 27134 HGNC:11829 ENSG00000105289 tight junction protein 3 TJP3 zona occludens 3 ZO-3 Yes No Comparative Toxicogenomics Database:27134, Ensembl:ENSG00000105289, GenAtlas:TJP3, GeneCard:TJP3, HGNC:HGNC:11829, HumanCyc Gene:HS02708, ModBase:O95049, NCBI Gene:27134, OMIM:612689, RefSeq DNA:NT_011255, RefSeq Protein:NP_055243, RefSeq RNA:NM_014428, UCSC Genome Browser:NM_014428, UniProtKB:O95049 No chr19 3708335 3750811 3708337 3750813 +PA352 7083 HGNC:11830 ENSG00000167900 thymidine kinase 1 TK1 """cytosolic thymidine kinase"", ""thymidine kinase 1, soluble""" Yes Yes Comparative Toxicogenomics Database:7083, Ensembl:ENSG00000167900, GenAtlas:TK1, GeneCard:TK1, HGNC:HGNC:11830, HumanCyc Gene:HS09657, ModBase:P04183, NCBI Gene:7083, OMIM:188300, RefSeq DNA:NT_010783, RefSeq Protein:NP_003249, RefSeq RNA:NM_003258, UCSC Genome Browser:NM_003258, UniProtKB:P04183 No chr17 76170160 76183285 78174079 78187208 +PA36535 7084 HGNC:11831 ENSG00000166548 thymidine kinase 2 TK2 """mitochondrial thymidine kinase"", ""thymidine kinase 2, mitochondrial""" SCA31 Yes Yes Comparative Toxicogenomics Database:7084, Ensembl:ENSG00000166548, GenAtlas:TK2, GeneCard:TK2, HGNC:HGNC:11831, HumanCyc Gene:HS09420, ModBase:O00142, NCBI Gene:7084, OMIM:188250, OMIM:251880, OMIM:609560, RefSeq DNA:NG_016862, RefSeq DNA:NT_010498, RefSeq Protein:NP_001166114, RefSeq Protein:NP_001166115, RefSeq Protein:NP_001166116, RefSeq Protein:NP_004605, RefSeq RNA:NM_001172643, RefSeq RNA:NM_001172644, RefSeq RNA:NM_001172645, RefSeq RNA:NM_004614, UCSC Genome Browser:NM_004614, UniProtKB:B4E0Z4, UniProtKB:O00142, UniProtKB:Q8IZR3 No chr16 66541906 66584315 66508003 66550412 +PA142672014 26007 HGNC:24552 ENSG00000149476 triokinase and FMN cyclase TKFC FAD-AMP lyase (cyclizing), dihydroxyacetone kinase 2 homolog (S. cerevisiae) DAK, DKFZP586B1621, NET45 Yes No Comparative Toxicogenomics Database:26007, Ensembl:ENSG00000149476, GeneCard:DAK, HGNC:HGNC:24552, HumanCyc Gene:HS07615, ModBase:Q3LXA3, NCBI Gene:26007, RefSeq DNA:NT_167190, RefSeq Protein:NP_056348, RefSeq RNA:NM_015533, UniProtKB:Q3LXA3 No chr11 61100654 61120898 61333182 61353426 +PA36537 7086 HGNC:11834 ENSG00000163931 transketolase TKT Wernicke-Korsakoff syndrome Yes No Comparative Toxicogenomics Database:7086, Ensembl:ENSG00000163931, GenAtlas:TKT, GeneCard:TKT, HGNC:HGNC:11834, HumanCyc Gene:HS08968, ModBase:P29401, NCBI Gene:7086, OMIM:277730, OMIM:606781, RefSeq DNA:NT_022517, RefSeq Protein:NP_001055, RefSeq Protein:NP_001128527, RefSeq Protein:NP_001128528, RefSeq RNA:NM_001064, RefSeq RNA:NM_001135055, RefSeq RNA:NM_001135056, UCSC Genome Browser:NM_001064, UniProtKB:P29401 No chr3 53258723 53290130 53224707 53256114 +PA36538 8277 HGNC:11835 ENSG00000007350 transketolase like 1 TKTL1 transketolase-like 1 TKR, TKT2 Yes No Ensembl:ENSG00000007350, GenAtlas:TKTL1, GeneCard:TKTL1, HGNC:HGNC:11835, HumanCyc Gene:HS00213, ModBase:P51854, NCBI Gene:8277, OMIM:300044, RefSeq DNA:NT_167198, RefSeq Protein:NP_001139405, RefSeq Protein:NP_001139406, RefSeq Protein:NP_036385, RefSeq RNA:NM_001145933, RefSeq RNA:NM_001145934, RefSeq RNA:NM_012253, UCSC Genome Browser:NM_012253, UniProtKB:B7Z7I0, UniProtKB:P51854, UniProtKB:Q5TYJ8 No chrX 153523979 153558713 154295674 154330363 +PA142670806 84076 HGNC:25313 ENSG00000151005 transketolase like 2 TKTL2 similar to transketolase, transketolase-like 2 DKFZP434L1717, FLJ32975 Yes No Ensembl:ENSG00000151005, GeneCard:TKTL2, HGNC:HGNC:25313, HumanCyc Gene:HS14346, ModBase:Q9H0I9, NCBI Gene:84076, RefSeq DNA:NT_016354, RefSeq Protein:NP_115512, RefSeq RNA:NM_032136, UniProtKB:Q9H0I9 No chr4 164392245 164395047 163471095 163473895 +PA142670807 116238 HGNC:25177 ENSG00000160606 TLC domain containing 1 TLCD1 calfacilitin Yes No Comparative Toxicogenomics Database:116238, Ensembl:ENSG00000160606, GeneCard:TLCD1, HGNC:HGNC:25177, HumanCyc Gene:HS14822, ModBase:Q96CP7, NCBI Gene:116238, RefSeq DNA:NT_010799, RefSeq Protein:NP_001153879, RefSeq Protein:NP_612472, RefSeq RNA:NM_001160407, RefSeq RNA:NM_138463, UniProtKB:A8MYP9, UniProtKB:Q96CP7 No chr17 27051366 27053949 28724348 28727930 +PA162405795 727910 HGNC:33522 ENSG00000185561 TLC domain containing 2 TLCD2 Yes No Ensembl:ENSG00000185561, GeneCard:TLCD2, HGNC:HGNC:33522, NCBI Gene:727910, RefSeq DNA:NT_010718, RefSeq Protein:NP_001157879, RefSeq Protein:XP_001126126, RefSeq Protein:XP_001717074, RefSeq Protein:XP_001718182, RefSeq RNA:NM_001164407, RefSeq RNA:XM_001126126, RefSeq RNA:XM_001717022, RefSeq RNA:XM_001718130, UniProtKB:A6NGC4 No chr17 1606084 1613662 1702790 1710368 +PA142671861 79850 HGNC:29646 TLC domain containing 3A TLCD3A """family with sequence similarity 57 member A"", ""family with sequence similarity 57, member A""" CT120, FAM57A, FLJ22282 Yes No Comparative Toxicogenomics Database:79850, GeneCard:FAM57A, HGNC:HGNC:29646, HumanCyc Gene:HS09608, ModBase:Q8TBR7, NCBI Gene:79850, OMIM:611627, RefSeq DNA:NT_010718, RefSeq Protein:NP_079068, RefSeq RNA:NM_024792, UniProtKB:Q8TBR7 No chr17 635847 646075 732546 742968 +PA166352223 83723 HGNC:25295 TLC domain containing 3B TLCD3B FAM57B DKFZP434I2117 Yes No HGNC:HGNC:25295, NCBI Gene:83723 No 0 0 0 0 +PA166352224 148534 HGNC:26477 TLC domain containing 4 TLCD4 TMEM56 FLJ31842 Yes No HGNC:HGNC:26477, NCBI Gene:148534 No 0 0 0 0 +PA144596257 219902 HGNC:28280 TLC domain containing 5 TLCD5 transmembrane protein 136 MGC17839, TMEM136 Yes No Comparative Toxicogenomics Database:219902, GeneCard:TMEM136, HGNC:HGNC:28280, NCBI Gene:219902, RefSeq DNA:NT_033899, RefSeq Protein:NP_001185599, RefSeq Protein:NP_001185600, RefSeq Protein:NP_001185601, RefSeq Protein:NP_001185602, RefSeq Protein:NP_001185603, RefSeq Protein:NP_001185604, RefSeq Protein:NP_777586, RefSeq RNA:NM_001198670, RefSeq RNA:NM_001198671, RefSeq RNA:NM_001198672, RefSeq RNA:NM_001198673, RefSeq RNA:NM_001198674, RefSeq RNA:NM_001198675, RefSeq RNA:NM_174926, UniProtKB:Q6ZRR5 No chr11 120195838 120204397 120324298 120333688 +PA25658 140711 HGNC:16112 ENSG00000101342 TBC/LysM-associated domain containing 2 TLDC2 TLD domain containing 2, hypothetical protein LOC140711 C20orf118, dJ132F21.2 Yes No Ensembl:ENSG00000101342, GenAtlas:C20orf118, GeneCard:C20orf118, HGNC:HGNC:16112, HumanCyc Gene:HS12451, NCBI Gene:140711, RefSeq DNA:NT_011362, RefSeq Protein:NP_542195, RefSeq RNA:NM_080628, UniProtKB:A0PJX2 No chr20 35504570 35522632 36873071 36894235 +PA36539 7088 HGNC:11837 ENSG00000196781 TLE family member 1, transcriptional corepressor TLE1 """enhancer of split groucho 1"", ""transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)""" ESG, ESG1, GRG1, TLE-1 Yes No Comparative Toxicogenomics Database:7088, Ensembl:ENSG00000196781, GenAtlas:TLE1, GeneCard:TLE1, HGNC:HGNC:11837, ModBase:Q04724, NCBI Gene:7088, OMIM:600189, RefSeq DNA:NT_008470, RefSeq Protein:NP_005068, RefSeq RNA:NM_005077, UCSC Genome Browser:NM_005077, UniProtKB:Q04724 No chr9 84198598 84303596 81583683 81689535 +PA36540 7089 HGNC:11838 ENSG00000065717 TLE family member 2, transcriptional corepressor TLE2 """enhancer of split groucho 2"", ""transducin-like enhancer of split 2"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)""" ESG, ESG2, FLJ41188, GRG2 Yes No Comparative Toxicogenomics Database:7089, Ensembl:ENSG00000065717, GenAtlas:TLE2, GeneCard:TLE2, HGNC:HGNC:11838, HumanCyc Gene:HS00854, ModBase:Q04725, NCBI Gene:7089, OMIM:601041, RefSeq DNA:NT_011255, RefSeq Protein:NP_001138233, RefSeq Protein:NP_001138234, RefSeq Protein:NP_003251, RefSeq RNA:NM_001144761, RefSeq RNA:NM_001144762, RefSeq RNA:NM_003260, UCSC Genome Browser:NM_003260, UniProtKB:B4DE03, UniProtKB:Q04725 No chr19 2997636 3047846 2997638 3047635 +PA36541 7090 HGNC:11839 ENSG00000140332 TLE family member 3, transcriptional corepressor TLE3 """transducin-like enhancer of split 3"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)""" ESG, ESG3, GRG3, HsT18976, KIAA1547 Yes No Comparative Toxicogenomics Database:7090, Ensembl:ENSG00000140332, GenAtlas:TLE3, GeneCard:TLE3, HGNC:HGNC:11839, HumanCyc Gene:HS06703, ModBase:Q04726, NCBI Gene:7090, OMIM:600190, RefSeq DNA:NT_010194, RefSeq Protein:NP_001098662, RefSeq Protein:NP_005069, RefSeq Protein:NP_065959, RefSeq RNA:NM_001105192, RefSeq RNA:NM_005078, RefSeq RNA:NM_020908, UCSC Genome Browser:NM_005078, UniProtKB:B3KM67, UniProtKB:B3KUA2, UniProtKB:Q04726, UniProtKB:Q6PI57, UniProtKB:Q6PRX2 No chr15 70340129 70390274 70047790 70097935 +PA36542 7091 HGNC:11840 ENSG00000106829 TLE family member 4, transcriptional corepressor TLE4 """transducin-like enhancer of split 4"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)""" E(spI), E(spl), ESG, GRG4 Yes No Ensembl:ENSG00000106829, GenAtlas:TLE4, GeneCard:TLE4, HGNC:HGNC:11840, HumanCyc Gene:HS02957, ModBase:Q9ULF9, NCBI Gene:7091, OMIM:605132, RefSeq DNA:NT_008470, RefSeq Protein:NP_008936, RefSeq RNA:NM_007005, UniProtKB:O60756, UniProtKB:Q04727 No chr9 82186878 82341658 79571773 79726882 +PA24606 166 HGNC:307 ENSG00000104964 TLE family member 5, transcriptional modulator TLE5 amino-terminal enhancer of split AES, GRG5, TLE5 Yes No Comparative Toxicogenomics Database:166, Ensembl:ENSG00000104964, GenAtlas:AES, GeneCard:AES, HGNC:HGNC:307, HumanCyc Gene:HS02663, NCBI Gene:166, OMIM:600188, RefSeq DNA:NT_011255, RefSeq Protein:NP_001121, RefSeq Protein:NP_945320, RefSeq Protein:NP_945321, RefSeq RNA:NM_001130, RefSeq RNA:NM_198969, RefSeq RNA:NM_198970, UCSC Genome Browser:NM_001130, UniProtKB:Q08117, UniProtKB:Q14CJ1 No chr19 3052908 3062964 3052910 3063107 +PA134948893 79816 HGNC:30788 ENSG00000104953 TLE family member 6, subcortical maternal complex member TLE6 """transducin-like enhancer of split 6"", ""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)""" FLJ14009, GRG6 Yes No Comparative Toxicogenomics Database:79816, Ensembl:ENSG00000104953, GeneCard:TLE6, HGNC:HGNC:30788, HumanCyc Gene:HS12565, ModBase:Q9H808, NCBI Gene:79816, OMIM:612399, RefSeq DNA:NT_011255, RefSeq Protein:NP_001137458, RefSeq Protein:NP_079036, RefSeq RNA:NM_001143986, RefSeq RNA:NM_024760, UniProtKB:Q6PJM9, UniProtKB:Q9H808 No chr19 2977536 2995182 2977410 2995184 +PA166181672 102723796 HGNC:53648 ENSG00000260734 TLE family member 7 TLE7 Yes No Ensembl:ENSG00000260734, HGNC:HGNC:53648, NCBI Gene:102723796 No 0 0 0 0 +PA36543 9874 HGNC:11841 ENSG00000198586 tousled like kinase 1 TLK1 tousled-like kinase 1 KIAA0137, PKU-BETA Yes No Comparative Toxicogenomics Database:9874, Ensembl:ENSG00000198586, GenAtlas:TLK1, GeneCard:TLK1, HGNC:HGNC:11841, HumanCyc Gene:HS01042, ModBase:Q9UKI8, NCBI Gene:9874, OMIM:608438, RefSeq DNA:NT_005403, RefSeq Protein:NP_001130026, RefSeq Protein:NP_001130027, RefSeq Protein:NP_036422, RefSeq RNA:NM_001136554, RefSeq RNA:NM_001136555, RefSeq RNA:NM_012290, UCSC Genome Browser:NM_012290, UniProtKB:B3KR15, UniProtKB:B4DX87, UniProtKB:Q9UKI8 No chr2 171847333 172087824 170990823 171231314 +PA36544 11011 HGNC:11842 ENSG00000146872 tousled like kinase 2 TLK2 tousled-like kinase 2 MGC44450, PKU-ALPHA Yes No Comparative Toxicogenomics Database:11011, Ensembl:ENSG00000146872, GenAtlas:TLK2, GeneCard:TLK2, HGNC:HGNC:11842, HumanCyc Gene:HS07378, ModBase:Q86UE8, NCBI Gene:11011, OMIM:608439, RefSeq DNA:NT_010783, RefSeq Protein:NP_001106178, RefSeq Protein:NP_006843, RefSeq RNA:NM_001112707, RefSeq RNA:NM_006852, UCSC Genome Browser:NM_006852, UniProtKB:Q86UE8 No chr17 60554447 60692842 62477481 62615481 +PA142670809 646202 HGNC:18048 ENSG00000226049 tousled-like kinase 2 pseudogene 1 TLK2P1 TLK2ps1 Yes No Ensembl:ENSG00000226049, GeneCard:TLK2P1, HGNC:HGNC:18048, NCBI Gene:646202, RefSeq DNA:NG_006102, RefSeq DNA:NT_010799 No chr17 32363723 32367162 34036704 34040141 +PA142670810 553121 HGNC:22227 ENSG00000228828 tousled-like kinase 2 pseudogene 2 TLK2P2 TLK2ps2 Yes No Ensembl:ENSG00000228828, GeneCard:TLK2P2, HGNC:HGNC:22227, NCBI Gene:553121, RefSeq DNA:NG_006100, RefSeq DNA:NT_008705 No chr10 38107534 38109910 37818406 37820987 +PA36545 7092 HGNC:11843 ENSG00000038295 tolloid like 1 TLL1 tolloid-like 1 Yes No Comparative Toxicogenomics Database:7092, Ensembl:ENSG00000038295, GenAtlas:TLL1, GeneCard:TLL1, HGNC:HGNC:11843, HumanCyc Gene:HS00532, ModBase:O43897, NCBI Gene:7092, OMIM:606742, OMIM:613087, RefSeq DNA:NG_016278, RefSeq DNA:NT_016354, RefSeq Protein:NP_001191689, RefSeq Protein:NP_036596, RefSeq RNA:NM_001204760, RefSeq RNA:NM_012464, UCSC Genome Browser:NM_012464, UniProtKB:O43897 No chr4 166794390 167026330 165873238 166105178 +PA36546 7093 HGNC:11844 ENSG00000095587 tolloid like 2 TLL2 tolloid-like 2 Yes No Comparative Toxicogenomics Database:7093, Ensembl:ENSG00000095587, GenAtlas:TLL2, GeneCard:TLL2, HGNC:HGNC:11844, HumanCyc Gene:HS01827, ModBase:Q9Y6L7, NCBI Gene:7093, OMIM:606743, RefSeq DNA:NT_030059, RefSeq Protein:NP_036597, RefSeq RNA:NM_012465, UCSC Genome Browser:NM_012465, UniProtKB:Q9Y6L7 No chr10 98124363 98273683 96364606 96513926 +PA36547 7094 HGNC:11845 ENSG00000137076 talin 1 TLN1 ILWEQ, TLN Yes Yes Comparative Toxicogenomics Database:7094, Ensembl:ENSG00000137076, GenAtlas:TLN1, GeneCard:TLN1, HGNC:HGNC:11845, HumanCyc Gene:HS06264, ModBase:Q9Y490, NCBI Gene:7094, OMIM:186745, RefSeq DNA:NT_008413, RefSeq Protein:NP_006280, RefSeq RNA:NM_006289, UCSC Genome Browser:NM_006289, UniProtKB:Q9Y490 No chr9 35697334 35732392 35697337 35732395 +PA37958 83660 HGNC:15447 ENSG00000171914 talin 2 TLN2 ILWEQ, KIAA0320 Yes No Comparative Toxicogenomics Database:83660, Ensembl:ENSG00000171914, GenAtlas:TLN2, GeneCard:TLN2, HGNC:HGNC:15447, HumanCyc Gene:HS10413, ModBase:Q9Y4G6, NCBI Gene:83660, OMIM:607349, RefSeq DNA:NT_010194, RefSeq Protein:NP_055874, RefSeq RNA:NM_015059, UCSC Genome Browser:NM_015059, UniProtKB:Q9Y4G6 No chr15 62682769 63136830 62390527 62844631 +PA30760 59274 HGNC:13519 ENSG00000140406 talin rod domain containing 1 TLNRD1 mesoderm development candidate 1 MESDC1, MGC99595 Yes No Comparative Toxicogenomics Database:59274, Ensembl:ENSG00000140406, GenAtlas:MESDC1, GeneCard:MESDC1, HGNC:HGNC:13519, HumanCyc Gene:HS13831, ModBase:Q9H1K6, NCBI Gene:59274, RefSeq DNA:NT_010194, RefSeq Protein:NP_072088, RefSeq RNA:NM_022566, UCSC Genome Browser:NM_022566, UniProtKB:Q9H1K6 No chr15 81293295 81296345 81000954 81004004 +PA36549 7096 HGNC:11847 ENSG00000174125 toll like receptor 1 TLR1 toll-like receptor 1 CD281, KIAA0012, rsc786 Yes No Ensembl:ENSG00000174125, GenAtlas:TLR1, GeneCard:TLR1, HGNC:HGNC:11847, HumanCyc Gene:HS10769, ModBase:Q15399, NCBI Gene:7096, OMIM:246300, OMIM:601194, OMIM:613223, RefSeq DNA:NG_016228, RefSeq DNA:NT_016297, RefSeq Protein:NP_003254, RefSeq RNA:NM_003263, UCSC Genome Browser:NM_003263, UniProtKB:Q15399, UniProtKB:Q32MK4 No chr4 38797876 38806814 38787555 38805800 +PA38011 81793 HGNC:15634 ENSG00000174123 toll like receptor 10 TLR10 toll-like receptor 10 CD290 Yes No Ensembl:ENSG00000174123, GenAtlas:TLR10, GeneCard:TLR10, HGNC:HGNC:15634, HumanCyc Gene:HS10768, ModBase:Q9BXR5, NCBI Gene:81793, OMIM:606270, RefSeq DNA:NT_016297, RefSeq Protein:NP_001017388, RefSeq Protein:NP_001182035, RefSeq Protein:NP_001182036, RefSeq Protein:NP_001182037, RefSeq Protein:NP_112218, RefSeq RNA:NM_001017388, RefSeq RNA:NM_001195106, RefSeq RNA:NM_001195107, RefSeq RNA:NM_001195108, RefSeq RNA:NM_030956, UCSC Genome Browser:NM_030956, UniProtKB:D1CS21, UniProtKB:Q9BXR5 No chr4 38773860 38784611 38772238 38782990 +PA36550 7097 HGNC:11848 ENSG00000137462 toll like receptor 2 TLR2 toll-like receptor 2 CD282, TIL4 Yes Yes Comparative Toxicogenomics Database:7097, Ensembl:ENSG00000137462, GenAtlas:TLR2, GeneCard:TLR2, HGNC:HGNC:11848, HumanCyc Gene:HS06343, ModBase:O60603, NCBI Gene:7097, OMIM:114500, OMIM:246300, OMIM:603028, RefSeq DNA:NG_016229, RefSeq DNA:NT_016354, RefSeq Protein:NP_003255, RefSeq RNA:NM_003264, UCSC Genome Browser:NM_003264, UniProtKB:B3KWR9, UniProtKB:D1CS45, UniProtKB:O60603 No chr4 154605404 154627243 153684080 153710643 +PA36551 7098 HGNC:11849 ENSG00000164342 toll like receptor 3 TLR3 toll-like receptor 3 CD283 Yes Yes Comparative Toxicogenomics Database:7098, Ensembl:ENSG00000164342, GenAtlas:TLR3, GeneCard:TLR3, HGNC:HGNC:11849, HumanCyc Gene:HS09066, ModBase:O15455, NCBI Gene:7098, OMIM:603029, OMIM:603075, OMIM:613002, RefSeq DNA:NG_007278, RefSeq DNA:NT_016354, RefSeq Protein:NP_003256, RefSeq RNA:NM_003265, UCSC Genome Browser:NM_003265, UniProtKB:O15455 No chr4 186990309 187006252 186069155 186086724 +PA36552 7099 HGNC:11850 ENSG00000136869 toll like receptor 4 TLR4 toll-like receptor 4 ARMD10, CD284, TLR-4, hToll Yes Yes Comparative Toxicogenomics Database:7099, Ensembl:ENSG00000136869, GenAtlas:TLR4, GeneCard:TLR4, HGNC:HGNC:11850, HumanCyc Gene:HS06232, ModBase:Q9UK78, NCBI Gene:7099, OMIM:114500, OMIM:152430, OMIM:603030, OMIM:611488, RefSeq DNA:NG_011475, RefSeq DNA:NT_008470, RefSeq Protein:NP_612564, RefSeq RNA:NM_138554, RefSeq RNA:NR_024168, RefSeq RNA:NR_024169, UCSC Genome Browser:NM_003266, UniProtKB:D1CS53, UniProtKB:O00206 No chr9 120466453 120479769 117704175 117717491 +PA36553 7100 HGNC:11851, HGNC:11080 ENSG00000187554 toll like receptor 5 TLR5 Toll/interleukin-1 receptor-like protein 3, toll-like receptor 5 FLJ10052, MGC126430, MGC126431, SLEB1, TIL3 Yes Yes Comparative Toxicogenomics Database:7100, Comparative Toxicogenomics Database:7833, Ensembl:ENSG00000187554, GenAtlas:SLEB1, GenAtlas:TLR5, GeneCard:SLEB1, GeneCard:TLR5, HGNC:HGNC:11851, HGNC:HGNC:11080, ModBase:O60602, NCBI Gene:7100, OMIM:152700, OMIM:601744, OMIM:603031, OMIM:608556, RefSeq DNA:NG_016244, RefSeq DNA:NT_167186, RefSeq Protein:NP_003259, RefSeq RNA:NM_003268, UCSC Genome Browser:NM_003268, UniProtKB:O60602 No chr1 223282748 223316624 223108401 223143282 +PA38183 10333 HGNC:16711 ENSG00000174130 toll like receptor 6 TLR6 toll-like receptor 6 CD286 Yes No Comparative Toxicogenomics Database:10333, Ensembl:ENSG00000174130, GenAtlas:TLR6, GeneCard:TLR6, HGNC:HGNC:16711, HumanCyc Gene:HS10770, ModBase:Q9Y2C9, NCBI Gene:10333, OMIM:605403, RefSeq DNA:NT_016297, RefSeq Protein:NP_006059, RefSeq RNA:NM_006068, UCSC Genome Browser:NM_006068, UniProtKB:Q9Y2C9 No chr4 38825325 38858438 38822897 38857767 +PA38008 51284 HGNC:15631 ENSG00000196664 toll like receptor 7 TLR7 toll-like receptor 7 Yes Yes Comparative Toxicogenomics Database:51284, Ensembl:ENSG00000196664, GenAtlas:TLR7, GeneCard:TLR7, HGNC:HGNC:15631, ModBase:Q9NYK1, NCBI Gene:51284, OMIM:300365, RefSeq DNA:NG_012569, RefSeq DNA:NT_167197, RefSeq Protein:NP_057646, RefSeq RNA:NM_016562, UCSC Genome Browser:NM_016562, UniProtKB:B2R9N9, UniProtKB:Q9NYK1 No chrX 12885202 12908480 12867083 12890361 +PA38009 51311 HGNC:15632 ENSG00000101916 toll like receptor 8 TLR8 toll-like receptor 8 CD288, hTLR8 Yes No Ensembl:ENSG00000101916, GenAtlas:TLR8, GeneCard:TLR8, HGNC:HGNC:15632, HumanCyc Gene:HS02318, ModBase:Q9NR97, NCBI Gene:51311, OMIM:300366, RefSeq DNA:NG_012882, RefSeq DNA:NT_167197, RefSeq Protein:NP_619542, RefSeq RNA:NM_138636, UCSC Genome Browser:NM_016610, UniProtKB:Q9NR97 No chrX 12924739 12941288 12906620 12923169 +PA38010 54106 HGNC:15633 ENSG00000239732 toll like receptor 9 TLR9 toll-like receptor 9 CD289 Yes Yes Comparative Toxicogenomics Database:54106, Ensembl:ENSG00000239732, GenAtlas:TLR9, GeneCard:TLR9, HGNC:HGNC:15633, HumanCyc Gene:HS10654, ModBase:Q9NR96, NCBI Gene:54106, OMIM:605474, RefSeq DNA:NT_022517, RefSeq Protein:NP_059138, RefSeq RNA:NM_017442, UCSC Genome Browser:NM_017442, UniProtKB:C3W5P5, UniProtKB:D1CS56, UniProtKB:Q9NR96 No chr3 52255096 52260179 52221080 52226163 +PA35095 3195 HGNC:5056 ENSG00000107807 T cell leukemia homeobox 1 TLX1 """Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)"", ""T-cell leukemia homeobox 1"", ""homeo box 11 (T-cell lymphoma 3-associated breakpoint)""" HOX11, TCL3 Yes No Comparative Toxicogenomics Database:3195, Ensembl:ENSG00000107807, GenAtlas:TLX1, GeneCard:TLX1, HGNC:HGNC:5056, HumanCyc Gene:HS03028, ModBase:P31314, NCBI Gene:3195, OMIM:186770, RefSeq DNA:NT_030059, RefSeq Protein:NP_001182446, RefSeq Protein:NP_005512, RefSeq RNA:NM_001195517, RefSeq RNA:NM_005521, UCSC Genome Browser:NM_005521, UniProtKB:A1L4G3, UniProtKB:P31314 No chr10 102891061 102897546 101130773 101137789 +PA165549107 100038246 HGNC:37183 ENSG00000236311 TLX1 neighbor TLX1NB APT-B7, TD1, TDI Yes No Ensembl:ENSG00000236311, GeneCard:TLX1NB, HGNC:HGNC:37183, NCBI Gene:100038246, OMIM:612734, RefSeq DNA:NT_030059, RefSeq Protein:NP_001078867, RefSeq RNA:NM_001085398, UniProtKB:P0CAT3 No chr10 102849078 102890903 101089321 101141266 +PA35096 3196 HGNC:5057 ENSG00000115297 T cell leukemia homeobox 2 TLX2 T-cell leukemia homeobox 2 Enx, HOX11L1, NCX, Tlx2 Yes No Ensembl:ENSG00000115297, GenAtlas:TLX2, GeneCard:TLX2, HGNC:HGNC:5057, HumanCyc Gene:HS03866, ModBase:O43763, NCBI Gene:3196, OMIM:604240, RefSeq DNA:NT_022184, RefSeq Protein:NP_057254, RefSeq RNA:NM_016170, UCSC Genome Browser:NM_001534, UniProtKB:O43763 No chr2 74740686 74744275 74514469 74517148 +PA37797 30012 HGNC:13532 ENSG00000164438 T cell leukemia homeobox 3 TLX3 T-cell leukemia homeobox 3 HOX11L2, RNX Yes No Ensembl:ENSG00000164438, GenAtlas:TLX3, GeneCard:TLX3, HGNC:HGNC:13532, HumanCyc Gene:HS09082, ModBase:O43711, NCBI Gene:30012, OMIM:604640, RefSeq DNA:NT_023133, RefSeq Protein:NP_066305, RefSeq RNA:NM_021025, UCSC Genome Browser:NM_021025, UniProtKB:O43711 No chr5 170736288 170739138 171309284 171312134 +PA142670798 83941 HGNC:24142 ENSG00000162604 TM2 domain containing 1 TM2D1 Beta-amyloid peptide binding protein BBP Yes No Comparative Toxicogenomics Database:83941, Ensembl:ENSG00000162604, GeneCard:TM2D1, HGNC:HGNC:24142, HumanCyc Gene:HS14939, ModBase:Q9BX74, NCBI Gene:83941, OMIM:610080, RefSeq DNA:NT_032977, RefSeq Protein:NP_114416, RefSeq RNA:NM_032027, UniProtKB:Q9BX74 No chr1 62146718 62191095 61681047 61725423 +PA142670799 83877 HGNC:24127 ENSG00000169490 TM2 domain containing 2 TM2D2 BLP1 Yes No Comparative Toxicogenomics Database:83877, Ensembl:ENSG00000169490, GeneCard:TM2D2, HGNC:HGNC:24127, HumanCyc Gene:HS15778, NCBI Gene:83877, OMIM:610081, RefSeq DNA:NT_167187, RefSeq Protein:NP_001019551, RefSeq Protein:NP_001019552, RefSeq Protein:NP_114146, RefSeq Protein:NP_510882, RefSeq RNA:NM_001024380, RefSeq RNA:NM_001024381, RefSeq RNA:NM_031940, RefSeq RNA:NM_078473, UniProtKB:Q9BX73 No chr8 38846327 38854335 38988808 38997139 +PA142670800 80213 HGNC:24128 ENSG00000184277 TM2 domain containing 3 TM2D3 almondex homolog BLP2, FLJ22604 Yes No Comparative Toxicogenomics Database:80213, Ensembl:ENSG00000184277, GeneCard:TM2D3, HGNC:HGNC:24128, NCBI Gene:80213, OMIM:610014, RefSeq DNA:NT_010274, RefSeq Protein:NP_079417, RefSeq Protein:NP_510883, RefSeq RNA:NM_025141, RefSeq RNA:NM_078474, UniProtKB:Q9BRN9 No chr15 102173429 102192594 101632977 101652391 +PA36554 4071 HGNC:11853 ENSG00000169908 transmembrane 4 L six family member 1 TM4SF1 L6, M3S1 Yes No Comparative Toxicogenomics Database:4071, Ensembl:ENSG00000169908, GenAtlas:TM4SF1, GeneCard:TM4SF1, HGNC:HGNC:11853, HumanCyc Gene:HS10033, ModBase:P30408, NCBI Gene:4071, OMIM:191155, RefSeq DNA:NT_005612, RefSeq Protein:NP_055035, RefSeq RNA:NM_014220, UCSC Genome Browser:NM_014220, UniProtKB:P30408 No chr3 149086805 149095647 149369018 149377860 +PA142670801 116441 HGNC:25181 ENSG00000163762 transmembrane 4 L six family member 18 TM4SF18 L6D Yes No Ensembl:ENSG00000163762, GeneCard:TM4SF18, HGNC:HGNC:25181, HumanCyc Gene:HS08932, NCBI Gene:116441, RefSeq DNA:NT_005612, RefSeq Protein:NP_001171652, RefSeq Protein:NP_620141, RefSeq RNA:NM_001184723, RefSeq RNA:NM_138786, UniProtKB:Q96CE8 No chr3 149036285 149051548 149318498 149333761 +PA142670802 116211 HGNC:25167 ENSG00000145107 transmembrane 4 L six family member 19 TM4SF19 Yes No Ensembl:ENSG00000145107, GeneCard:TM4SF19, HGNC:HGNC:25167, HumanCyc Gene:HS14076, NCBI Gene:116211, RefSeq DNA:NT_029928, RefSeq Protein:NP_001191826, RefSeq Protein:NP_001191827, RefSeq Protein:NP_612470, RefSeq RNA:NM_001204897, RefSeq RNA:NM_001204898, RefSeq RNA:NM_138461, UniProtKB:Q96DZ7 No chr3 196050417 196065291 196323546 196338420 +PA142670803 79853 HGNC:26230 ENSG00000168955 transmembrane 4 L six family member 20 TM4SF20 FLJ22800, TCCE518 Yes No Ensembl:ENSG00000168955, GeneCard:TM4SF20, HGNC:HGNC:26230, HumanCyc Gene:HS15734, NCBI Gene:79853, RefSeq DNA:NT_005403, RefSeq Protein:NP_079071, RefSeq RNA:NM_024795, UniProtKB:Q53R12 No chr2 228226872 228244022 227362041 227379306 +PA36557 7104 HGNC:11856 ENSG00000169903 transmembrane 4 L six family member 4 TM4SF4 il-TMP Yes No Comparative Toxicogenomics Database:7104, Ensembl:ENSG00000169903, GenAtlas:TM4SF4, GeneCard:TM4SF4, HGNC:HGNC:11856, HumanCyc Gene:HS10031, NCBI Gene:7104, OMIM:606567, RefSeq DNA:NT_005612, RefSeq Protein:NP_004608, RefSeq RNA:NM_004617, UCSC Genome Browser:NM_004617, UniProtKB:B3KP26, UniProtKB:P48230 No chr3 149192368 149221181 149474581 149503394 +PA36558 9032 HGNC:11857 ENSG00000142484 transmembrane 4 L six family member 5 TM4SF5 Yes No Ensembl:ENSG00000142484, GenAtlas:TM4SF5, GeneCard:TM4SF5, HGNC:HGNC:11857, HumanCyc Gene:HS06926, NCBI Gene:9032, OMIM:604657, RefSeq DNA:NT_010718, RefSeq Protein:NP_003954, RefSeq RNA:NM_003963, UCSC Genome Browser:NM_003963, UniProtKB:O14894 No chr17 4675187 4686506 4771892 4783211 +PA36561 53346 HGNC:11860 ENSG00000136404 transmembrane 6 superfamily member 1 TM6SF1 Yes No Ensembl:ENSG00000136404, GenAtlas:TM6SF1, GeneCard:TM6SF1, HGNC:HGNC:11860, HumanCyc Gene:HS06157, ModBase:Q9BZW5, NCBI Gene:53346, OMIM:606562, RefSeq DNA:NT_077661, RefSeq Protein:NP_001138375, RefSeq Protein:NP_075379, RefSeq RNA:NM_001144903, RefSeq RNA:NM_023003, UCSC Genome Browser:NM_023003, UniProtKB:Q4U0U5, UniProtKB:Q9BZW5 No chr15 83776301 83806111 83107572 83145403 +PA36562 53345 HGNC:11861 ENSG00000213996 transmembrane 6 superfamily member 2 TM6SF2 Lpr4 Yes Yes Ensembl:ENSG00000213996, GenAtlas:TM6SF2, GeneCard:TM6SF2, HGNC:HGNC:11861, NCBI Gene:53345, OMIM:606563, RefSeq DNA:NT_011295, RefSeq Protein:NP_001001524, RefSeq RNA:NM_001001524, UCSC Genome Browser:NM_023002, UniProtKB:Q8N8A7, UniProtKB:Q9BZW4 No chr19 19374841 19384074 19264365 19273265 +PA36564 7108 HGNC:11863 ENSG00000149809 transmembrane 7 superfamily member 2 TM7SF2 delta(14)-sterol reductase ANG1, DHCR14A, NET47 Yes No Comparative Toxicogenomics Database:7108, Ensembl:ENSG00000149809, GenAtlas:TM7SF2, GeneCard:TM7SF2, HGNC:HGNC:11863, HumanCyc Gene:HS07643, ModBase:O76062, NCBI Gene:7108, OMIM:603414, RefSeq DNA:NT_167190, RefSeq Protein:NP_003264, RefSeq RNA:NM_003273, UCSC Genome Browser:NM_003273, UniProtKB:O76062 No chr11 64879326 64883707 65111854 65116235 +PA134949354 51768 HGNC:23049 ENSG00000064115 transmembrane 7 superfamily member 3 TM7SF3 Yes No Ensembl:ENSG00000064115, GeneCard:TM7SF3, HGNC:HGNC:23049, HumanCyc Gene:HS00792, ModBase:Q9NS93, NCBI Gene:51768, OMIM:605181, RefSeq DNA:NT_009714, RefSeq Protein:NP_057635, RefSeq RNA:NM_016551, UniProtKB:Q9NS93 No chr12 27124503 27167360 26966519 27014427 +PA36565 10548 HGNC:11864 ENSG00000100926 transmembrane 9 superfamily member 1 TM9SF1 HMP70, MP70 Yes No Comparative Toxicogenomics Database:10548, Ensembl:ENSG00000100926, GenAtlas:TM9SF1, GeneCard:TM9SF1, HGNC:HGNC:11864, HumanCyc Gene:HS02166, ModBase:O15321, NCBI Gene:10548, RefSeq DNA:NT_026437, RefSeq Protein:NP_001014842, RefSeq Protein:NP_006396, RefSeq RNA:NM_001014842, RefSeq RNA:NM_006405, UCSC Genome Browser:NM_006405, UniProtKB:O15321, UniProtKB:Q86SZ6 No chr14 24658353 24666288 24189143 24195736 +PA36566 9375 HGNC:11865 ENSG00000125304 transmembrane 9 superfamily member 2 TM9SF2 LncRNA Positively Correlated with Inflammatory Responses Lnc-PCIR, P76 Yes No Comparative Toxicogenomics Database:9375, Ensembl:ENSG00000125304, GenAtlas:TM9SF2, GeneCard:TM9SF2, HGNC:HGNC:11865, HumanCyc Gene:HS04869, ModBase:Q99805, NCBI Gene:9375, OMIM:604678, RefSeq DNA:NT_009952, RefSeq Protein:NP_004791, RefSeq RNA:NM_004800, UCSC Genome Browser:NM_004800, UniProtKB:Q99805 No chr13 100153628 100216302 99501374 99564048 +PA144596264 56889 HGNC:21529 ENSG00000077147 transmembrane 9 superfamily member 3 TM9SF3 SMBP Yes No Ensembl:ENSG00000077147, GeneCard:TM9SF3, HGNC:HGNC:21529, HumanCyc Gene:HS01230, ModBase:Q9HD45, NCBI Gene:56889, RefSeq DNA:NT_030059, RefSeq Protein:NP_064508, RefSeq RNA:NM_020123, UniProtKB:Q9HD45 No chr10 98277867 98346809 96518110 96587052 +PA134937613 9777 HGNC:30797 ENSG00000101337 transmembrane 9 superfamily member 4 TM9SF4 transmembrane 9 superfamily protein member 4 KIAA0255, dJ836N17.2 Yes No Comparative Toxicogenomics Database:9777, Ensembl:ENSG00000101337, GeneCard:TM9SF4, HGNC:HGNC:30797, HumanCyc Gene:HS02247, ModBase:Q92544, NCBI Gene:9777, RefSeq DNA:NT_011362, RefSeq Protein:NP_055557, RefSeq RNA:NM_014742, UniProtKB:Q92544 No chr20 30697309 30755061 32109506 32167258 +PA162379923 55319 HGNC:25638 ENSG00000198498 translation machinery associated 16 homolog TMA16 translation machinery associated 16 homolog (S. cerevisiae) C4orf43, FLJ11184 Yes No Ensembl:ENSG00000198498, GeneCard:C4orf43, HGNC:HGNC:25638, HumanCyc Gene:HS14347, ModBase:Q96EY4, NCBI Gene:55319, RefSeq DNA:NT_016354, RefSeq Protein:NP_060822, RefSeq RNA:NM_018352, UniProtKB:Q96EY4 No chr4 164415673 164441691 163494521 163520539 +PA143485423 51372 HGNC:26932 ENSG00000232112 translation machinery associated 7 homolog TMA7 translation machinery associated 7 homolog (S. cerevisiae) CCDC72, HSPC016 Yes No Ensembl:ENSG00000232112, GeneCard:CCDC72, HGNC:HGNC:26932, NCBI Gene:51372, RefSeq DNA:NT_022517, RefSeq Protein:NP_057017, RefSeq RNA:NM_015933, UniProtKB:Q9Y2S6 No chr3 48481686 48485537 48440276 48444129 +PA166352225 112268293 HGNC:53893 translation machinery associated 7 homolog B TMA7B Yes No HGNC:HGNC:53893, NCBI Gene:112268293 No 0 0 0 0 +PA142670804 64114 HGNC:23410 ENSG00000135926 transmembrane BAX inhibitor motif containing 1 TMBIM1 LFG3, PP1201, RECS1 Yes No Comparative Toxicogenomics Database:64114, Ensembl:ENSG00000135926, GeneCard:TMBIM1, HGNC:HGNC:23410, HumanCyc Gene:HS13598, ModBase:Q969X1, NCBI Gene:64114, OMIM:610364, RefSeq DNA:NT_005403, RefSeq Protein:NP_071435, RefSeq RNA:NM_022152, UniProtKB:B3KSM0, UniProtKB:Q969X1 No chr2 219138917 219157280 218274192 218292577 +PA142670805 51643 HGNC:24257 ENSG00000155957 transmembrane BAX inhibitor motif containing 4 TMBIM4 CGI-119, GAAP, LFG4, S1R, ZPRO Yes No Ensembl:ENSG00000155957, GeneCard:TMBIM4, HGNC:HGNC:24257, HumanCyc Gene:HS08083, NCBI Gene:51643, RefSeq DNA:NT_029419, RefSeq Protein:NP_057140, RefSeq RNA:NM_016056, UniProtKB:Q9HC24 No chr12 66530717 66563808 66136936 66170072 +PA36440 7009 HGNC:11723 ENSG00000139644 transmembrane BAX inhibitor motif containing 6 TMBIM6 BAX inhibitor 1 BAXI1, BI-1, TEGT Yes No Comparative Toxicogenomics Database:7009, Ensembl:ENSG00000139644, GenAtlas:TEGT, GeneCard:TEGT, GeneCard:TMBIM6, HGNC:HGNC:11723, HumanCyc Gene:HS06645, NCBI Gene:7009, OMIM:600748, RefSeq DNA:NT_029419, RefSeq Protein:NP_001092046, RefSeq Protein:NP_003208, RefSeq RNA:NM_001098576, RefSeq RNA:NM_003217, UCSC Genome Browser:NM_003217, UniProtKB:P55061 No chr12 50135293 50158717 49741510 49764934 +PA38156 117531 HGNC:16513 ENSG00000165091 transmembrane channel like 1 TMC1 transmembrane channel-like 1 DFNA36, DFNB11, DFNB7 Yes No Comparative Toxicogenomics Database:117531, Ensembl:ENSG00000165091, GenAtlas:TMC1, GeneCard:TMC1, HGNC:HGNC:16513, HumanCyc Gene:HS09182, ModBase:Q8TDI8, NCBI Gene:117531, OMIM:600974, OMIM:606705, OMIM:606706, RefSeq DNA:NG_008213, RefSeq DNA:NT_008470, RefSeq Protein:NP_619636, RefSeq RNA:NM_138691, UCSC Genome Browser:NM_138691, UniProtKB:Q8TDI8 No chr9 75136717 75451267 72521801 72836351 +PA38158 117532 HGNC:16527 ENSG00000149488 transmembrane channel like 2 TMC2 transmembrane channel-like 2 C20orf145, dJ686C3.3 Yes No Ensembl:ENSG00000149488, GenAtlas:TMC2, GeneCard:TMC2, HGNC:HGNC:16527, HumanCyc Gene:HS07618, ModBase:Q9BYN4, NCBI Gene:117532, OMIM:606707, RefSeq DNA:NT_011387, RefSeq Protein:NP_542789, RefSeq RNA:NM_080751, UCSC Genome Browser:NM_080751, UniProtKB:Q8TDI7 No chr20 2517253 2622494 2536607 2642185 +PA134916179 342125 HGNC:22995 ENSG00000188869 transmembrane channel like 3 TMC3 transmembrane channel-like 3 Yes No Ensembl:ENSG00000188869, GeneCard:TMC3, HGNC:HGNC:22995, NCBI Gene:342125, RefSeq DNA:NT_010194, RefSeq Protein:NP_001074001, RefSeq RNA:NM_001080532 No chr15 81624760 81666418 81332419 81374077 +PA134874063 147798 HGNC:22998 ENSG00000167608 transmembrane channel like 4 TMC4 transmembrane channel-like 4 Yes No Comparative Toxicogenomics Database:147798, Ensembl:ENSG00000167608, GeneCard:TMC4, HGNC:HGNC:22998, HumanCyc Gene:HS15572, NCBI Gene:147798, RefSeq DNA:NT_011109, RefSeq Protein:NP_001138775, RefSeq Protein:NP_653287, RefSeq RNA:NM_001145303, RefSeq RNA:NM_144686, UniProtKB:Q7Z404 No chr19 54663833 54676944 54160095 54173250 +PA134923498 79838 HGNC:22999 ENSG00000103534 transmembrane channel like 5 TMC5 transmembrane channel-like 5 FLJ13593 Yes No Ensembl:ENSG00000103534, GeneCard:TMC5, HGNC:HGNC:22999, HumanCyc Gene:HS12526, NCBI Gene:79838, RefSeq DNA:NT_010393, RefSeq Protein:NP_001098718, RefSeq Protein:NP_001098719, RefSeq Protein:NP_079056, RefSeq RNA:NM_001105248, RefSeq RNA:NM_001105249, RefSeq RNA:NM_024780, UniProtKB:Q6UXY8 No chr16 19421839 19510435 19410539 19499113 +PA134949466 11322 HGNC:18021 ENSG00000141524 transmembrane channel like 6 TMC6 transmembrane channel-like 6 EVER1, EVIN1, LAK-4P, TNRC6C-AS1 Yes No Comparative Toxicogenomics Database:11322, Ensembl:ENSG00000141524, GeneCard:TMC6, HGNC:HGNC:18021, HumanCyc Gene:HS06842, NCBI Gene:11322, OMIM:226400, OMIM:605828, RefSeq DNA:NG_007879, RefSeq DNA:NT_010783, RefSeq Protein:NP_001120670, RefSeq Protein:NP_009198, RefSeq RNA:NM_001127198, RefSeq RNA:NM_007267, UniProtKB:Q7Z403 No chr17 76108999 76128488 78108775 78132427 +PA134988099 79905 HGNC:23000 ENSG00000170537 transmembrane channel like 7 TMC7 transmembrane channel-like 7 FLJ21240 Yes No Comparative Toxicogenomics Database:79905, Ensembl:ENSG00000170537, GeneCard:TMC7, HGNC:HGNC:23000, HumanCyc Gene:HS15894, NCBI Gene:79905, RefSeq DNA:NT_010393, RefSeq Protein:NP_001153836, RefSeq Protein:NP_079123, RefSeq RNA:NM_001160364, RefSeq RNA:NM_024847, UniProtKB:Q7Z402 No chr16 18995256 19075264 18983934 19063942 +PA134892288 147138 HGNC:20474 ENSG00000167895 transmembrane channel like 8 TMC8 transmembrane channel-like 8 EVER2, EVIN2 Yes No Comparative Toxicogenomics Database:147138, Ensembl:ENSG00000167895, GeneCard:TMC8, HGNC:HGNC:20474, HumanCyc Gene:HS15607, ModBase:Q8IU68, NCBI Gene:147138, OMIM:226400, OMIM:605829, RefSeq DNA:NG_007881, RefSeq DNA:NT_010783, RefSeq Protein:NP_689681, RefSeq RNA:NM_152468, UniProtKB:B3KXZ8, UniProtKB:Q8IU68 No chr17 76125505 76139049 78129296 78142968 +PA134951990 23023 HGNC:29116 ENSG00000172765 transmembrane and coiled-coil domain family 1 TMCC1 KIAA0779 Yes Yes Comparative Toxicogenomics Database:23023, Ensembl:ENSG00000172765, GeneCard:TMCC1, HGNC:HGNC:29116, ModBase:O94876, NCBI Gene:23023, RefSeq DNA:NT_005612, RefSeq Protein:NP_001017395, RefSeq Protein:NP_001121696, RefSeq Protein:NP_055823, RefSeq RNA:NM_001017395, RefSeq RNA:NM_001128224, RefSeq RNA:NM_015008, RefSeq RNA:NR_033361, UniProtKB:O94876 No chr3 129366635 129612419 129647792 129893605 +PA134963344 9911 HGNC:24239 ENSG00000133069 transmembrane and coiled-coil domain family 2 TMCC2 FLJ38497, HUCEP11 Yes No Comparative Toxicogenomics Database:9911, Ensembl:ENSG00000133069, GeneCard:TMCC2, HGNC:HGNC:24239, ModBase:O75069, NCBI Gene:9911, RefSeq DNA:NT_004487, RefSeq Protein:NP_001229854, RefSeq Protein:NP_055673, RefSeq RNA:NM_001242925, RefSeq RNA:NM_014858, UniProtKB:O75069 No chr1 205197038 205242471 205227910 205273343 +PA134874359 57458 HGNC:29199 ENSG00000057704 transmembrane and coiled-coil domain family 3 TMCC3 KIAA1145 Yes No Comparative Toxicogenomics Database:57458, Ensembl:ENSG00000057704, GeneCard:TMCC3, HGNC:HGNC:29199, ModBase:Q9ULS5, NCBI Gene:57458, RefSeq DNA:NT_029419, RefSeq Protein:NP_065749, RefSeq RNA:NM_020698, UniProtKB:Q9ULS5 No chr12 94960900 95044324 94567124 94650562 +PA142670792 54499 HGNC:18188 ENSG00000143183 transmembrane and coiled-coil domains 1 TMCO1 Ca(2+) load-activated Ca(2+) channel HP10122, TMCC4 Yes No Comparative Toxicogenomics Database:54499, Ensembl:ENSG00000143183, GeneCard:TMCO1, HGNC:HGNC:18188, HumanCyc Gene:HS13952, ModBase:Q9UM00, NCBI Gene:54499, RefSeq DNA:NT_004487, RefSeq Protein:NP_061899, RefSeq RNA:NM_019026, UniProtKB:Q9UM00 No chr1 165693528 165738159 165724291 165768922 +PA142670793 127391 HGNC:23312 ENSG00000188800 transmembrane and coiled-coil domains 2 TMCO2 dJ39G22.2 Yes No Ensembl:ENSG00000188800, GeneCard:TMCO2, HGNC:HGNC:23312, NCBI Gene:127391, RefSeq DNA:NT_032977, RefSeq Protein:NP_001008740, RefSeq RNA:NM_001008740, UniProtKB:Q7Z6W1 No chr1 40713573 40717365 40247901 40251693 +PA134989495 55002 HGNC:20329 ENSG00000150403 transmembrane and coiled-coil domains 3 TMCO3 C13orf11, FLJ20623 Yes No Ensembl:ENSG00000150403, GeneCard:TMCO3, HGNC:HGNC:20329, HumanCyc Gene:HS07667, ModBase:Q6UWJ1, NCBI Gene:55002, RefSeq DNA:NT_027140, RefSeq Protein:NP_060375, RefSeq RNA:NM_017905, UniProtKB:Q6UWJ1 No chr13 114145308 114204544 113490993 113550229 +PA142670794 255104 HGNC:27393 ENSG00000162542 transmembrane and coiled-coil domains 4 TMCO4 DKFZp686C23231 Yes No Comparative Toxicogenomics Database:255104, Ensembl:ENSG00000162542, GeneCard:TMCO4, HGNC:HGNC:27393, NCBI Gene:255104, RefSeq DNA:NT_004610, RefSeq Protein:NP_859070, RefSeq RNA:NM_181719, UniProtKB:Q5TGY1, UniProtKB:Q6ZSC6 No chr1 20008706 20126424 19682213 19800385 +PA162405808 145942 HGNC:28558 ENSG00000166069 transmembrane and coiled-coil domains 5A TMCO5A MGC35118, TMCO5 Yes No Ensembl:ENSG00000166069, GeneCard:TMCO5A, HGNC:HGNC:28558, HumanCyc Gene:HS15400, ModBase:Q8N6Q1, NCBI Gene:145942, RefSeq DNA:NT_010194, RefSeq Protein:NP_689666, RefSeq RNA:NM_152453, UniProtKB:Q8N6Q1 No chr15 38226801 38243623 37934607 37997541 +PA162405809 100652857 HGNC:34243 ENSG00000215296 transmembrane and coiled-coil domains 5B, pseudogene TMCO5B Yes No Ensembl:ENSG00000215296, GeneCard:TMCO5B, HGNC:HGNC:34243, NCBI Gene:100652857, RefSeq DNA:NT_010194, RefSeq RNA:XR_041884, RefSeq RNA:XR_041885, RefSeq RNA:XR_041886 No chr15 33528677 33539756 33236476 33247555 +PA162405810 55374 HGNC:28814 ENSG00000113119 transmembrane and coiled-coil domains 6 TMCO6 FLJ39769, PRO1580 Yes Yes Ensembl:ENSG00000113119, GeneCard:TMCO6, HGNC:HGNC:28814, HumanCyc Gene:HS12786, ModBase:Q96DC7, NCBI Gene:55374, RefSeq DNA:NT_029289, RefSeq Protein:NP_060972, RefSeq RNA:NM_018502, UniProtKB:Q96DC7 No chr5 140019012 140024989 140596529 140647411 +PA166352226 112163659 HGNC:53646 transmembrane and death domain 1 TMDD1 C12orf81 hCG1648055 Yes No HGNC:HGNC:53646, NCBI Gene:112163659 No 0 0 0 0 +PA134972147 11018 HGNC:17291 ENSG00000099203 transmembrane p24 trafficking protein 1 TMED1 transmembrane emp24 protein transport domain containing 1 IL1RL1LG, Il1rl1l, MGC1270, ST2L, p24g1, p24gamma1 Yes No Comparative Toxicogenomics Database:11018, Ensembl:ENSG00000099203, GeneCard:TMED1, HGNC:HGNC:17291, HumanCyc Gene:HS01879, NCBI Gene:11018, OMIM:605395, RefSeq DNA:NT_011295, RefSeq Protein:NP_006849, RefSeq RNA:NM_006858, UniProtKB:Q13445 No chr19 10942743 10946983 10832067 10836307 +PA128394579 10972 HGNC:16998 ENSG00000170348 transmembrane p24 trafficking protein 10 TMED10 transmembrane emp24-like trafficking protein 10 (yeast) P24(DELTA), TMP21, p23, p24d1, p24delta1 Yes No Comparative Toxicogenomics Database:10972, Ensembl:ENSG00000170348, GeneCard:TMED10, HGNC:HGNC:16998, HumanCyc Gene:HS10108, ModBase:P49755, NCBI Gene:10972, OMIM:605406, RefSeq DNA:NT_026437, RefSeq Protein:NP_006818, RefSeq RNA:NM_006827, UCSC Genome Browser:NM_006827, UniProtKB:P49755 No chr14 75598171 75643349 75131468 75176646 +PA142670797 286102 HGNC:30754 ENSG00000254618 transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 TMED10P1 Tmp21-II Yes No Ensembl:ENSG00000254618, HGNC:HGNC:30754, NCBI Gene:286102, RefSeq DNA:NT_037704, RefSeq RNA:NR_002807 No chr8 146220251 146224283 +PA164726508 100379220 HGNC:35401 ENSG00000215367 transmembrane emp24 protein transport domain containing 11, pseudogene TMED11P Yes No Ensembl:ENSG00000215367, HGNC:HGNC:35401, NCBI Gene:100379220 No chr4 1108985 1116952 1115197 1123164 +PA142670796 10959 HGNC:16996 ENSG00000086598 transmembrane p24 trafficking protein 2 TMED2 transmembrane emp24 domain trafficking protein 2 P24A, RNP24, p24b1, p24beta1 Yes No Comparative Toxicogenomics Database:10959, Ensembl:ENSG00000086598, GeneCard:TMED2, HGNC:HGNC:16996, HumanCyc Gene:HS01537, NCBI Gene:10959, RefSeq DNA:NT_009755, RefSeq Protein:NP_006806, RefSeq RNA:NM_006815, UniProtKB:Q15363, UniProtKB:Q6FHT8 No chr12 124069076 124082688 123584529 123598144 +PA134958958 23423 HGNC:28889 ENSG00000166557 transmembrane p24 trafficking protein 3 TMED3 transmembrane emp24 protein transport domain containing 3 C15orf22, p24B, p24g4, p24gamma4 Yes No Comparative Toxicogenomics Database:23423, Ensembl:ENSG00000166557, GeneCard:TMED3, HGNC:HGNC:28889, HumanCyc Gene:HS09421, NCBI Gene:23423, RefSeq DNA:NT_010194, RefSeq Protein:NP_031390, RefSeq RNA:NM_007364, UniProtKB:Q9Y3Q3 No chr15 79603404 79675802 79311062 79419879 +PA134983854 222068 HGNC:22301 ENSG00000158604 transmembrane p24 trafficking protein 4 TMED4 transmembrane emp24 protein transport domain containing 4 HNLF, p24a3, p24alpha3 Yes No Comparative Toxicogenomics Database:222068, Ensembl:ENSG00000158604, GeneCard:TMED4, HGNC:HGNC:22301, NCBI Gene:222068, OMIM:612038, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_872353, RefSeq RNA:NM_182547, UniProtKB:Q7Z7H5 No chr7 44617493 44621881 44577894 44582295 +PA134942067 50999 HGNC:24251 ENSG00000117500 transmembrane p24 trafficking protein 5 TMED5 transmembrane emp24 protein transport domain containing 5 CGI-100, p24g2, p24gamma2 Yes No Ensembl:ENSG00000117500, GeneCard:TMED5, HGNC:HGNC:24251, HumanCyc Gene:HS04141, NCBI Gene:50999, RefSeq DNA:NT_032977, RefSeq Protein:NP_001161302, RefSeq Protein:NP_057124, RefSeq RNA:NM_001167830, RefSeq RNA:NM_016040, RefSeq RNA:NR_030761, UniProtKB:B1AKT4, UniProtKB:Q9Y3A6 No chr1 93615299 93646246 93149742 93180689 +PA128394759 146456 HGNC:28331 ENSG00000157315 transmembrane p24 trafficking protein 6 TMED6 transmembrane emp24 protein transport domain containing 6 MGC23911, p24g5, p24gamma5 Yes No Ensembl:ENSG00000157315, GeneCard:TMED6, HGNC:HGNC:28331, HumanCyc Gene:HS08200, NCBI Gene:146456, RefSeq DNA:NT_010498, RefSeq Protein:NP_653277, RefSeq RNA:NM_144676, UCSC Genome Browser:NM_144676, UniProtKB:Q8WW62 No chr16 69377149 69385712 69343246 69351809 +PA134891536 51014 HGNC:24253 ENSG00000134970 transmembrane p24 trafficking protein 7 TMED7 transmembrane emp24 protein transport domain containing 7 CGI-109, FLJ90481, p24g3, p24gamma3 Yes No Ensembl:ENSG00000134970, GeneCard:TMED7, HGNC:HGNC:24253, NCBI Gene:51014, RefSeq DNA:NT_034772, RefSeq Protein:NP_861974, RefSeq RNA:NM_181836, UniProtKB:Q9Y3B3 No chr5 114948905 114961876 115613208 115626179 +PA165660570 100302736 HGNC:33945 ENSG00000251201 TMED7-TICAM2 readthrough TMED7-TICAM2 Yes No Ensembl:ENSG00000251201, GeneCard:TMED7-TICAM2, HGNC:HGNC:33945, NCBI Gene:100302736, RefSeq Protein:NP_001157940, RefSeq Protein:NP_001157941, RefSeq RNA:NM_001164468, RefSeq RNA:NM_001164469, UniProtKB:Q6JUT2, UniProtKB:Q8NBU8 No chr5 114914339 114961876 115578496 115626179 +PA134948632 283578 HGNC:18633 ENSG00000100580 transmembrane p24 trafficking protein family member 8 TMED8 transmembrane emp24 protein transport domain containing 8 FAM15B Yes No Ensembl:ENSG00000100580, GeneCard:TMED8, HGNC:HGNC:18633, ModBase:Q6PL24, NCBI Gene:283578, RefSeq DNA:NT_026437, RefSeq Protein:NP_998766, RefSeq RNA:NM_213601, UniProtKB:Q6PL24 No chr14 77805102 77843396 77335021 77377384 +PA134881976 54732 HGNC:24878 ENSG00000184840 transmembrane p24 trafficking protein 9 TMED9 transmembrane emp24 protein transport domain containing 9 HSGP25L2G, p24a2, p24alpha2 Yes No Comparative Toxicogenomics Database:54732, Ensembl:ENSG00000184840, GeneCard:TMED9, HGNC:HGNC:24878, NCBI Gene:54732, RefSeq DNA:NT_023133, RefSeq Protein:NP_059980, RefSeq RNA:NM_017510, UniProtKB:Q9BVK6 No chr5 177019213 177023108 177592212 177596107 +PA36567 8577 HGNC:11866 ENSG00000241697 transmembrane protein with EGF like and two follistatin like domains 1 TMEFF1 """cancer/testis antigen family 120, member 1"", ""tomoregulin-1"", ""transmembrane protein with EGF-like and two follistatin-like domains 1""" C9orf2, CT120.1, H7365 Yes No Comparative Toxicogenomics Database:8577, Ensembl:ENSG00000241697, GenAtlas:TMEFF1, GeneCard:TMEFF1, HGNC:HGNC:11866, HumanCyc Gene:HS00886, ModBase:Q8IYR6, NCBI Gene:8577, OMIM:603421, RefSeq DNA:NT_008470, RefSeq Protein:NP_003683, RefSeq RNA:NM_003692, UCSC Genome Browser:NM_003692, UniProtKB:Q8IYR6 No chr9 103235520 103339918 100473238 100577636 +PA36568 23671 HGNC:11867 ENSG00000144339 transmembrane protein with EGF like and two follistatin like domains 2 TMEFF2 """cancer/testis antigen family 120, member 2"", ""tomoregulin"", ""transmembrane protein TENB2"", ""transmembrane protein with EGF-like and two follistatin-like domains 2""" CT120.2, HPP1, TENB2, TPEF, TR Yes Yes Comparative Toxicogenomics Database:23671, Ensembl:ENSG00000144339, GenAtlas:TMEFF2, GeneCard:TMEFF2, HGNC:HGNC:11867, HumanCyc Gene:HS07166, ModBase:Q9P2Y9, NCBI Gene:23671, OMIM:605734, RefSeq DNA:NT_005403, RefSeq Protein:NP_057276, RefSeq RNA:NM_016192, UCSC Genome Browser:NM_016192, UniProtKB:Q9UIK5 No chr2 192770615 193059645 191948299 192194940 +PA142670749 55273 HGNC:25607 ENSG00000166292 transmembrane protein 100 TMEM100 FLJ10970, FLJ37856 Yes No Ensembl:ENSG00000166292, GeneCard:TMEM100, HGNC:HGNC:25607, HumanCyc Gene:HS15424, NCBI Gene:55273, RefSeq DNA:NT_010783, RefSeq Protein:NP_001093110, RefSeq Protein:NP_060756, RefSeq RNA:NM_001099640, RefSeq RNA:NM_018286, UniProtKB:Q9NV29 No chr17 53796988 53809482 55719627 55732121 +PA142670750 84336 HGNC:28653 ENSG00000091947 transmembrane protein 101 TMEM101 FLJ23987, MGC4251 Yes No Ensembl:ENSG00000091947, GeneCard:TMEM101, HGNC:HGNC:28653, HumanCyc Gene:HS12341, ModBase:Q96IK0, NCBI Gene:84336, RefSeq DNA:NT_010783, RefSeq Protein:NP_115752, RefSeq RNA:NM_032376, UniProtKB:Q96IK0 No chr17 42088556 42100519 44011188 44024260 +PA142670751 284114 HGNC:26722 ENSG00000181284 transmembrane protein 102 TMEM102 DANGER family member 2B, common beta-chain-associated protein CBAP, D2B, FLJ36878 Yes No Ensembl:ENSG00000181284, GeneCard:TMEM102, HGNC:HGNC:26722, ModBase:Q8N9M5, NCBI Gene:284114, RefSeq DNA:NT_010718, RefSeq Protein:NP_848613, RefSeq RNA:NM_178518, UniProtKB:Q8N9M5 No chr17 7338762 7340998 7435443 7437679 +PA142670753 54868 HGNC:25984 ENSG00000109066 transmembrane protein 104 TMEM104 FLJ00021, FLJ20255, SLC38A12 Yes No Ensembl:ENSG00000109066, GeneCard:TMEM104, HGNC:HGNC:25984, HumanCyc Gene:HS03193, ModBase:Q8NE00, NCBI Gene:54868, RefSeq DNA:NT_010783, RefSeq Protein:NP_060198, RefSeq RNA:NM_017728, UniProtKB:Q8NE00 No chr17 72772622 72835922 74776483 74839783 +PA142670754 284186 HGNC:26794 ENSG00000185332 transmembrane protein 105 TMEM105 FLJ38792 Yes No Ensembl:ENSG00000185332, GeneCard:TMEM105, HGNC:HGNC:26794, NCBI Gene:284186, RefSeq DNA:NT_010783, RefSeq Protein:NP_848615, RefSeq RNA:NM_178520, UniProtKB:Q8N8V8 No chr17 79285070 79304474 81311270 81330674 +PA142670755 113277 HGNC:28288 ENSG00000184988 transmembrane protein 106A TMEM106A MGC20235 Yes No Ensembl:ENSG00000184988, GeneCard:TMEM106A, HGNC:HGNC:28288, ModBase:Q96A25, NCBI Gene:113277, RefSeq DNA:NT_010783, RefSeq Protein:NP_659478, RefSeq RNA:NM_145041, UniProtKB:A8K2X2, UniProtKB:Q96A25 No chr17 41363865 41372061 43211827 43220041 +PA142670756 54664 HGNC:22407 ENSG00000106460 transmembrane protein 106B TMEM106B FLJ11273, MGC33727 Yes No Comparative Toxicogenomics Database:54664, Ensembl:ENSG00000106460, GeneCard:TMEM106B, HGNC:HGNC:22407, HumanCyc Gene:HS12631, ModBase:Q9NUM4, NCBI Gene:54664, OMIM:613413, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001127704, RefSeq Protein:NP_060844, RefSeq RNA:NM_001134232, RefSeq RNA:NM_018374, UniProtKB:Q9NUM4 No chr7 12250848 12276890 12211222 12237264 +PA142670757 79022 HGNC:28775 ENSG00000134291 transmembrane protein 106C TMEM106C MGC5576 Yes No Ensembl:ENSG00000134291, GeneCard:TMEM106C, HGNC:HGNC:28775, HumanCyc Gene:HS13518, ModBase:Q9BVX2, NCBI Gene:79022, RefSeq DNA:NT_029419, RefSeq Protein:NP_001137313, RefSeq Protein:NP_001137314, RefSeq Protein:NP_001137315, RefSeq Protein:NP_076961, RefSeq RNA:NM_001143841, RefSeq RNA:NM_001143842, RefSeq RNA:NM_001143843, RefSeq RNA:NM_024056, UniProtKB:Q9BVX2 No chr12 48357330 48362661 47963547 47968878 +PA142670758 84314 HGNC:28128 ENSG00000179029 transmembrane protein 107 TMEM107 JBTS29, MGC10744, MKS13 Yes No Ensembl:ENSG00000179029, GeneCard:TMEM107, HGNC:HGNC:28128, HumanCyc Gene:HS17179, NCBI Gene:84314, RefSeq DNA:NT_010718, RefSeq Protein:NP_115730, RefSeq Protein:NP_898888, RefSeq RNA:NM_032354, RefSeq RNA:NM_183065, UniProtKB:Q6UX40 No chr17 8076296 8079723 8172978 8176396 +PA142670759 66000 HGNC:28451 ENSG00000144868 transmembrane protein 108 TMEM108 cancer/testis antigen 124 CT124, MGC3040 Yes No Comparative Toxicogenomics Database:66000, Ensembl:ENSG00000144868, GeneCard:TMEM108, HGNC:HGNC:28451, ModBase:Q6UXF1, NCBI Gene:66000, RefSeq DNA:NT_005612, RefSeq Protein:NP_001129941, RefSeq Protein:NP_076432, RefSeq RNA:NM_001136469, RefSeq RNA:NM_023943, UniProtKB:Q6UXF1 No chr3 132757171 133116619 133038288 133397775 +PA142670760 79073 HGNC:28771 ENSG00000110108 transmembrane protein 109 TMEM109 SRP-independent targeting 3 homolog MGC5508, SND3, hSND3 Yes No Comparative Toxicogenomics Database:79073, Ensembl:ENSG00000110108, GeneCard:TMEM109, HGNC:HGNC:28771, HumanCyc Gene:HS12716, ModBase:Q9BVC6, NCBI Gene:79073, RefSeq DNA:NT_167190, RefSeq Protein:NP_076997, RefSeq RNA:NM_024092, UniProtKB:Q9BVC6 No chr11 60681351 60690915 60913899 60923443 +PA134893886 8834 HGNC:16823 ENSG00000178307 transmembrane protein 11 TMEM11 C17orf35, PM1, PMI Yes No Comparative Toxicogenomics Database:8834, Ensembl:ENSG00000178307, GeneCard:TMEM11, HGNC:HGNC:16823, HumanCyc Gene:HS11275, NCBI Gene:8834, RefSeq DNA:NT_010718, RefSeq Protein:NP_003867, RefSeq RNA:NM_003876, RefSeq RNA:NR_024547, UniProtKB:P17152 No chr17 21101263 21117974 21197950 21214595 +PA162405852 283953 HGNC:33227 ENSG00000232258 transmembrane protein 114 TMEM114 Yes No Ensembl:ENSG00000232258, GeneCard:TMEM114, HGNC:HGNC:33227, NCBI Gene:283953, OMIM:611579, RefSeq DNA:NT_010393, RefSeq Protein:NP_001139808, RefSeq Protein:XP_002343456, RefSeq Protein:XP_002344990, RefSeq Protein:XP_002348306, RefSeq RNA:NM_001146336, RefSeq RNA:XM_002343415, RefSeq RNA:XM_002344949, RefSeq RNA:XM_002348265, UniProtKB:B3SHH9 No chr16 8619502 8622226 8526549 8590193 +PA143485636 11070 HGNC:30055 ENSG00000126062 transmembrane protein 115 TMEM115 placental protein 6 PL6 Yes No Comparative Toxicogenomics Database:11070, Ensembl:ENSG00000126062, GeneCard:TMEM115, HGNC:HGNC:30055, HumanCyc Gene:HS04991, ModBase:Q12893, NCBI Gene:11070, OMIM:607069, RefSeq DNA:NT_022517, RefSeq Protein:NP_008955, RefSeq RNA:NM_007024, UniProtKB:Q12893 No chr3 50392180 50396939 50354749 50359508 +PA143485637 89894 HGNC:25084 ENSG00000198270 transmembrane protein 116 TMEM116 FLJ90167 Yes No Ensembl:ENSG00000198270, GeneCard:TMEM116, HGNC:HGNC:25084, ModBase:Q8NCL8, NCBI Gene:89894, RefSeq DNA:NT_009775, RefSeq Protein:NP_001180382, RefSeq Protein:NP_001180460, RefSeq Protein:NP_612350, RefSeq RNA:NM_001193453, RefSeq RNA:NM_001193531, RefSeq RNA:NM_138341, UniProtKB:Q8NCL8 No chr12 112369086 112451023 111894936 112013219 +PA143485638 84216 HGNC:25308 ENSG00000139173 transmembrane protein 117 TMEM117 DKFZp434K2435 Yes No Comparative Toxicogenomics Database:84216, Ensembl:ENSG00000139173, GeneCard:TMEM117, HGNC:HGNC:25308, HumanCyc Gene:HS13762, ModBase:Q9H0C3, NCBI Gene:84216, RefSeq DNA:NT_029419, RefSeq Protein:NP_115632, RefSeq RNA:NM_032256, UniProtKB:Q9H0C3 No chr12 44229853 44783543 43795806 44389762 +PA143485640 338773 HGNC:27884 ENSG00000183160 transmembrane protein 119 TMEM119 osteoblast induction factor OBIF Yes No Comparative Toxicogenomics Database:338773, Ensembl:ENSG00000183160, GeneCard:TMEM119, HGNC:HGNC:27884, NCBI Gene:338773, RefSeq DNA:NT_029419, RefSeq Protein:NP_859075, RefSeq RNA:NM_181724, UniProtKB:Q4V9L6 No chr12 108983622 108991894 108589846 108598118 +PA162405861 83862 HGNC:21697 ENSG00000189077 transmembrane protein 120A TMEM120A NET29, TACAN, TMPIT Yes No Ensembl:ENSG00000189077, GeneCard:TMEM120A, HGNC:HGNC:21697, ModBase:Q9BXJ8, NCBI Gene:83862, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_114131, RefSeq RNA:NM_031925, UniProtKB:Q9BXJ8 No chr7 75616155 75623992 75986837 75994674 +PA162405862 144404 HGNC:32008 ENSG00000188735 transmembrane protein 120B TMEM120B Yes No Ensembl:ENSG00000188735, GeneCard:TMEM120B, HGNC:HGNC:32008, NCBI Gene:144404, RefSeq DNA:NT_009775, RefSeq Protein:NP_001074294, RefSeq RNA:NM_001080825, UniProtKB:A0PK00 No chr12 122150658 122219974 121712752 121782070 +PA143485641 80757 HGNC:20511 ENSG00000184986 transmembrane protein 121 TMEM121 transmembrane protein 121A MGC4659, TMEM121A, hhole, hole Yes No Comparative Toxicogenomics Database:80757, Ensembl:ENSG00000184986, GeneCard:TMEM121, HGNC:HGNC:20511, ModBase:Q9BTD3, NCBI Gene:80757, RefSeq DNA:NT_026437, RefSeq Protein:NP_079544, RefSeq RNA:NM_025268, UniProtKB:Q9BTD3 No chr14 105992953 105996554 105526616 105530202 +PA26387 27439 HGNC:1844 ENSG00000183307 transmembrane protein 121B TMEM121B cat eye syndrome chromosome region, candidate 6 CECR6 Yes No Comparative Toxicogenomics Database:27439, Ensembl:ENSG00000183307, GenAtlas:CECR6, GeneCard:CECR6, HGNC:HGNC:1844, ModBase:Q9BXQ6, NCBI Gene:27439, RefSeq DNA:NT_011519, RefSeq Protein:NP_001156551, RefSeq Protein:NP_114096, RefSeq RNA:NM_001163079, RefSeq RNA:NM_031890, UCSC Genome Browser:NM_031890, UniProtKB:Q9BXQ6 No chr22 17597189 17602257 17116299 17121367 +PA143485643 114908 HGNC:30138 ENSG00000152558 transmembrane protein 123 TMEM123 pro oncosis receptor inducing membrane injury gene KCT3, PORIMIN Yes No Ensembl:ENSG00000152558, GeneCard:TMEM123, HGNC:HGNC:30138, HumanCyc Gene:HS07833, ModBase:Q8N131, NCBI Gene:114908, OMIM:606356, RefSeq DNA:NT_033899, RefSeq Protein:NP_443164, RefSeq RNA:NM_052932, UniProtKB:Q8N131 No chr11 102267056 102323775 102396325 102453044 +PA143485644 128218 HGNC:28275 ENSG00000179178 transmembrane protein 125 TMEM125 MGC17299 Yes No Comparative Toxicogenomics Database:128218, Ensembl:ENSG00000179178, GeneCard:TMEM125, HGNC:HGNC:28275, HumanCyc Gene:HS17223, ModBase:Q96AQ2, NCBI Gene:128218, RefSeq DNA:NT_032977, RefSeq Protein:NP_653227, RefSeq RNA:NM_144626, UniProtKB:Q96AQ2 No chr1 43735665 43739673 43269921 43274002 +PA143485645 84233 HGNC:25382 ENSG00000171202 transmembrane protein 126A TMEM126A DKFZp586C1924, OPA7 Yes No Comparative Toxicogenomics Database:84233, Ensembl:ENSG00000171202, GeneCard:TMEM126A, HGNC:HGNC:25382, HumanCyc Gene:HS15962, ModBase:Q9H061, NCBI Gene:84233, OMIM:612988, OMIM:612989, RefSeq DNA:NG_017157, RefSeq DNA:NT_167190, RefSeq Protein:NP_115649, RefSeq RNA:NM_032273, UniProtKB:Q9H061 No chr11 85358963 85367597 85647919 85656553 +PA143485646 55863 HGNC:30883 ENSG00000171204 transmembrane protein 126B TMEM126B HT007 Yes No Ensembl:ENSG00000171204, GeneCard:TMEM126B, HGNC:HGNC:30883, HumanCyc Gene:HS15963, NCBI Gene:55863, RefSeq DNA:NT_167190, RefSeq Protein:NP_001180466, RefSeq Protein:NP_001180467, RefSeq Protein:NP_060950, RefSeq RNA:NM_001193537, RefSeq RNA:NM_001193538, RefSeq RNA:NM_018480, RefSeq RNA:NR_036465, UniProtKB:A8K535, UniProtKB:Q8IUX1 No chr11 85339617 85347583 85628573 85636539 +PA143485647 55654 HGNC:26038 ENSG00000135956 transmembrane protein 127 TMEM127 FLJ20507, FLJ22257 Yes No Comparative Toxicogenomics Database:55654, Ensembl:ENSG00000135956, GeneCard:TMEM127, HGNC:HGNC:26038, HumanCyc Gene:HS13601, ModBase:O75204, NCBI Gene:55654, OMIM:171300, OMIM:613403, RefSeq DNA:NT_022171, RefSeq Protein:NP_001180233, RefSeq Protein:NP_060319, RefSeq RNA:NM_001193304, RefSeq RNA:NM_017849, UniProtKB:O75204 No chr2 96915946 96931751 96248514 96266014 +PA143485648 85013 HGNC:28201 ENSG00000132406 transmembrane protein 128 TMEM128 MGC13159 Yes No Ensembl:ENSG00000132406, GeneCard:TMEM128, HGNC:HGNC:28201, HumanCyc Gene:HS13424, NCBI Gene:85013, RefSeq DNA:NT_006051, RefSeq Protein:NP_116316, RefSeq RNA:NM_032927, UniProtKB:Q5BJH2 No chr4 4237269 4249965 4235542 4248265 +PA143485649 92305 HGNC:25137 ENSG00000168936 transmembrane protein 129, E3 ubiquitin ligase TMEM129 """transmembrane protein 129"", ""transmembrane protein 129, E3 ubiquitin protein ligase""" D4S2561E Yes No Comparative Toxicogenomics Database:92305, Ensembl:ENSG00000168936, GeneCard:TMEM129, HGNC:HGNC:25137, HumanCyc Gene:HS15731, NCBI Gene:92305, RefSeq DNA:NT_006051, RefSeq Protein:NP_001120738, RefSeq Protein:NP_612394, RefSeq RNA:NM_001127266, RefSeq RNA:NM_138385, UniProtKB:A0AVI4 No chr4 1717679 1723084 1715952 1721357 +PA143485650 222865 HGNC:25429 ENSG00000166448 transmembrane protein 130 TMEM130 DKFZp761L1417, FLJ42643 Yes Yes Ensembl:ENSG00000166448, GeneCard:TMEM130, HGNC:HGNC:25429, HumanCyc Gene:HS15445, NCBI Gene:222865, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001127922, RefSeq Protein:NP_001127923, RefSeq Protein:NP_690877, RefSeq RNA:NM_001134450, RefSeq RNA:NM_001134451, RefSeq RNA:NM_152913, UniProtKB:Q8N3G9 No chr7 98444111 98467673 98846488 98870050 +PA143485651 23505 HGNC:30366 ENSG00000075568 transmembrane protein 131 TMEM131 CC28, KIAA0257, PRO1048, RW1, YR-23 Yes No Comparative Toxicogenomics Database:23505, Ensembl:ENSG00000075568, GeneCard:TMEM131, HGNC:HGNC:30366, NCBI Gene:23505, RefSeq DNA:NT_022171, RefSeq Protein:NP_056163, RefSeq RNA:NM_015348, UniProtKB:Q92545 No chr2 98372799 98612389 97756336 97996182 +PA128394615 23240 HGNC:29146 ENSG00000121210 transmembrane 131 like TMEM131L DKFZp586H1322, KIAA0922, TMEM131L Yes Yes Ensembl:ENSG00000121210, GeneCard:KIAA0922, HGNC:HGNC:29146, HumanCyc Gene:HS13014, NCBI Gene:23240, RefSeq DNA:NT_016354, RefSeq Protein:NP_001124479, RefSeq Protein:NP_056011, RefSeq RNA:NM_001131007, RefSeq RNA:NM_015196, UCSC Genome Browser:NM_015196, UniProtKB:A2VDJ0, UniProtKB:B3KU55 No chr4 154387498 154558760 153466346 153637608 +PA134886953 54972 HGNC:31092 ENSG00000006118 transmembrane protein 132A TMEM132A FLJ20539, GBP, HSPA5BP1 Yes No Comparative Toxicogenomics Database:54972, Ensembl:ENSG00000006118, GeneCard:TMEM132A, HGNC:HGNC:31092, HumanCyc Gene:HS12010, ModBase:Q24JP5, NCBI Gene:54972, RefSeq DNA:NT_167190, RefSeq Protein:NP_060340, RefSeq Protein:NP_821174, RefSeq RNA:NM_017870, RefSeq RNA:NM_178031, UniProtKB:Q24JP5 No chr11 60691913 60704631 60924441 60937159 +PA143485652 114795 HGNC:29397 ENSG00000139364 transmembrane protein 132B TMEM132B KIAA1786, KIAA1906 Yes No Ensembl:ENSG00000139364, GeneCard:TMEM132B, HGNC:HGNC:29397, ModBase:Q14DG7, NCBI Gene:114795, RefSeq DNA:NT_009755, RefSeq Protein:NP_443139, RefSeq RNA:NM_052907, UniProtKB:Q14DG7 No chr12 125811162 126146915 125186750 125662377 +PA143485653 92293 HGNC:25436 ENSG00000181234 transmembrane protein 132C TMEM132C protein phosphatase 1, regulatory subunit 152 DKFZp761O2018, PPP1R152 Yes No Ensembl:ENSG00000181234, GeneCard:TMEM132C, HGNC:HGNC:25436, NCBI Gene:92293, RefSeq DNA:NT_009755, RefSeq Protein:NP_001129575, RefSeq RNA:NM_001136103, UniProtKB:Q8N3T6 No chr12 128751948 129192460 128267170 128707915 +PA143485654 121256 HGNC:29411 ENSG00000151952 transmembrane protein 132D TMEM132D protein phosphatase 1, regulatory subunit 153 KIAA1944, MOLT, PPP1R153 Yes No Ensembl:ENSG00000151952, GeneCard:TMEM132D, HGNC:HGNC:29411, NCBI Gene:121256, OMIM:611257, RefSeq DNA:NT_009755, RefSeq Protein:NP_597705, RefSeq RNA:NM_133448, UniProtKB:Q14C87 No chr12 129556271 130388212 129071726 129903667 +PA143485655 124842 HGNC:26991 ENSG00000181291 transmembrane protein 132E TMEM132E DFNB99 Yes No Ensembl:ENSG00000181291, GeneCard:TMEM132E, HGNC:HGNC:26991, ModBase:Q6IEE7, NCBI Gene:124842, RefSeq DNA:NT_010799, RefSeq Protein:NP_997196, RefSeq RNA:NM_207313, UniProtKB:Q6IEE7 No chr17 32907768 32966337 34580749 34639318 +PA143485657 80194 HGNC:26142 ENSG00000172663 transmembrane protein 134 TMEM134 FLJ21749 Yes No Comparative Toxicogenomics Database:80194, Ensembl:ENSG00000172663, GeneCard:TMEM134, HGNC:HGNC:26142, HumanCyc Gene:HS16113, ModBase:Q9H6X4, NCBI Gene:80194, RefSeq DNA:NT_167190, RefSeq Protein:NP_001072118, RefSeq Protein:NP_001072119, RefSeq Protein:NP_079400, RefSeq RNA:NM_001078650, RefSeq RNA:NM_001078651, RefSeq RNA:NM_025124, UniProtKB:Q9H6X4 No chr11 67231819 67236748 67464348 67469277 +PA143485658 65084 HGNC:26167 ENSG00000166575 transmembrane protein 135 TMEM135 peroxisomal protein 52 FLJ22104, PMP52 Yes No Comparative Toxicogenomics Database:65084, Ensembl:ENSG00000166575, GeneCard:TMEM135, HGNC:HGNC:26167, HumanCyc Gene:HS15460, NCBI Gene:65084, RefSeq DNA:NT_167190, RefSeq Protein:NP_001162195, RefSeq Protein:NP_075069, RefSeq RNA:NM_001168724, RefSeq RNA:NM_022918, RefSeq RNA:NR_033149, UniProtKB:Q86UB9 No chr11 86748886 87039876 87037844 87328834 +PA166352227 HGNC:28252 transmembrane protein 137 TMEM137 MGC15912 Yes No HGNC:HGNC:28252 No 0 0 0 0 +PA144596259 51524 HGNC:26944 ENSG00000149483 transmembrane protein 138 TMEM138 HSPC196, JBTS16 Yes No Comparative Toxicogenomics Database:51524, Ensembl:ENSG00000149483, GeneCard:TMEM138, HGNC:HGNC:26944, HumanCyc Gene:HS14283, NCBI Gene:51524, RefSeq DNA:NT_167190, RefSeq Protein:NP_057548, RefSeq RNA:NM_016464, RefSeq RNA:NR_028473, UniProtKB:Q9NPI0 No chr11 61129473 61136977 61362001 61376502 +PA144596260 135932 HGNC:22058 ENSG00000178826 transmembrane protein 139 TMEM139 FLJ90586 Yes No Ensembl:ENSG00000178826, GeneCard:TMEM139, HGNC:HGNC:22058, HumanCyc Gene:HS17139, ModBase:Q8IV31, NCBI Gene:135932, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001229702, RefSeq Protein:NP_001229703, RefSeq Protein:NP_001229704, RefSeq Protein:NP_001229705, RefSeq Protein:NP_001229706, RefSeq Protein:NP_699176, RefSeq RNA:NM_001242773, RefSeq RNA:NM_001242774, RefSeq RNA:NM_001242775, RefSeq RNA:NM_001242776, RefSeq RNA:NM_001242777, RefSeq RNA:NM_153345, RefSeq RNA:NR_040003, UniProtKB:Q8IV31 No chr7 142982040 142985141 143284899 143288049 +PA144596261 55281 HGNC:21870 ENSG00000146859 transmembrane protein 140 TMEM140 FLJ11000 Yes No Comparative Toxicogenomics Database:55281, Ensembl:ENSG00000146859, GeneCard:TMEM140, HGNC:HGNC:21870, HumanCyc Gene:HS14181, NCBI Gene:55281, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_060765, RefSeq RNA:NM_018295, UniProtKB:Q9NV12 No chr7 134832766 134850967 135148014 135166215 +PA144596262 85014 HGNC:28211 ENSG00000244187 transmembrane protein 141 TMEM141 MGC14141 Yes No Comparative Toxicogenomics Database:85014, Ensembl:ENSG00000244187, GeneCard:TMEM141, HGNC:HGNC:28211, NCBI Gene:85014, RefSeq DNA:NT_024000, RefSeq Protein:NP_116317, RefSeq RNA:NM_032928, UniProtKB:Q96I45 No chr9 139685777 139687769 136791325 136793317 +PA144596251 55260 HGNC:25603 ENSG00000161558 transmembrane protein 143 TMEM143 FLJ10922 Yes No Ensembl:ENSG00000161558, GeneCard:TMEM143, HGNC:HGNC:25603, ModBase:Q96AN5, NCBI Gene:55260, RefSeq DNA:NT_011109, RefSeq Protein:NP_060743, RefSeq RNA:NM_018273, UniProtKB:Q96AN5 No chr19 48835613 48867489 48332356 48364237 +PA144596252 55314 HGNC:25633 ENSG00000164124 transmembrane protein 144 TMEM144 FLJ11155, SLC35G7 Yes No Comparative Toxicogenomics Database:55314, Ensembl:ENSG00000164124, GeneCard:TMEM144, HGNC:HGNC:25633, HumanCyc Gene:HS15155, ModBase:Q7Z5S9, NCBI Gene:55314, RefSeq DNA:NT_016354, RefSeq Protein:NP_060812, RefSeq RNA:NM_018342, UniProtKB:Q7Z5S9 No chr4 159122749 159176439 158201597 158255287 +PA144596253 284339 HGNC:26912 ENSG00000167619 transmembrane protein 145 TMEM145 FLJ90805 Yes No Ensembl:ENSG00000167619, GeneCard:TMEM145, HGNC:HGNC:26912, HumanCyc Gene:HS15577, NCBI Gene:284339, RefSeq DNA:NT_011109, RefSeq Protein:NP_775904, RefSeq RNA:NM_173633, UniProtKB:Q8NBT3 No chr19 42817477 42829214 42313325 42325062 +PA144596255 10430 HGNC:30414 ENSG00000105677 transmembrane protein 147 TMEM147 MGC1936, NIFIE14 Yes No Comparative Toxicogenomics Database:10430, Ensembl:ENSG00000105677, GeneCard:TMEM147, HGNC:HGNC:30414, HumanCyc Gene:HS02791, ModBase:Q9BVK8, NCBI Gene:10430, RefSeq DNA:NT_011109, RefSeq Protein:NP_001229526, RefSeq Protein:NP_001229527, RefSeq Protein:NP_116024, RefSeq RNA:NM_001242597, RefSeq RNA:NM_001242598, RefSeq RNA:NM_032635, UniProtKB:Q9BVK8 No chr19 36036502 36038429 35545600 35547527 +PA134974524 28978 HGNC:21076 ENSG00000096092 transmembrane protein 14A TMEM14A C6orf73, PTD011 Yes No Comparative Toxicogenomics Database:28978, Ensembl:ENSG00000096092, GeneCard:TMEM14A, HGNC:HGNC:21076, HumanCyc Gene:HS01848, NCBI Gene:28978, RefSeq DNA:NT_007592, RefSeq Protein:NP_054770, RefSeq RNA:NM_014051, UniProtKB:Q9Y6G1 No chr6 52535884 52551386 52671086 52686588 +PA134964501 81853 HGNC:21384 ENSG00000137210 transmembrane protein 14B TMEM14B MGC1223 Yes No Ensembl:ENSG00000137210, GeneCard:TMEM14B, HGNC:HGNC:21384, HumanCyc Gene:HS13667, ModBase:Q9NUH8, NCBI Gene:81853, RefSeq DNA:NT_007592, RefSeq Protein:NP_001121183, RefSeq Protein:NP_112231, RefSeq RNA:NM_001127711, RefSeq RNA:NM_030969, UniProtKB:Q5THN7, UniProtKB:Q9NUH8 No chr6 10747995 10770389 10747759 10759774 +PA134874746 51522 HGNC:20952 ENSG00000111843 transmembrane protein 14C TMEM14C C6orf53, HSPC194, NET26, bA421M1.6 Yes No Comparative Toxicogenomics Database:51522, Ensembl:ENSG00000111843, GeneCard:TMEM14C, HGNC:HGNC:20952, HumanCyc Gene:HS03474, NCBI Gene:51522, RefSeq DNA:NT_007592, RefSeq Protein:NP_001158730, RefSeq Protein:NP_057546, RefSeq RNA:NM_001165258, RefSeq RNA:NM_016462, UniProtKB:Q9P0S9 No chr6 10723148 10741577 10722915 10731129 +PA162405891 645843 HGNC:34386 transmembrane protein 14E TMEM14E Yes No GeneCard:TMEM14E, HGNC:HGNC:34386, ModBase:Q6UXP3, NCBI Gene:645843, RefSeq DNA:NT_005612, RefSeq Protein:NP_001116700, RefSeq RNA:NM_001123228, UniProtKB:Q6UXP3 No chr3 152057487 152058779 152339698 152340990 +PA165697532 129303 HGNC:24677 ENSG00000168890 transmembrane protein 150A TMEM150A tentonin 1 FLJ90024, TM6P1, TMEM150, TTN1 Yes No Comparative Toxicogenomics Database:129303, Ensembl:ENSG00000168890, GeneCard:TMEM150A, HGNC:HGNC:24677, HumanCyc Gene:HS15722, ModBase:Q86TG1, NCBI Gene:129303, RefSeq DNA:NT_022184, RefSeq Protein:NP_001026908, RefSeq Protein:NP_699173, RefSeq RNA:NM_001031738, RefSeq RNA:NM_153342, RefSeq RNA:NR_033179, UniProtKB:Q86TG1 No chr2 85825670 85829822 85598547 85602699 +PA165394503 284417 HGNC:34415 ENSG00000180061 transmembrane protein 150B TMEM150B DRAM-Related/Associated Member 3, tentonin 2 DRAM3, TMEM224, TTN2 Yes No Ensembl:ENSG00000180061, GeneCard:TMEM150B, HGNC:HGNC:34415, NCBI Gene:284417, RefSeq DNA:NT_011109, RefSeq Protein:NP_001078957, RefSeq RNA:NM_001085488, UniProtKB:A6NC51 No chr19 55823653 55845416 55308871 55334043 +PA165664735 441027 HGNC:37263 ENSG00000249242 transmembrane protein 150C TMEM150C tentonin 3 FLJ12993, TTN3 Yes No Ensembl:ENSG00000249242, GeneCard:TMEM150C, HGNC:HGNC:37263, NCBI Gene:441027, RefSeq DNA:NT_016354, RefSeq Protein:NP_001073975, RefSeq RNA:NM_001080506, UniProtKB:B9EJG8 No chr4 83404329 83483595 82484451 82561973 +PA162405898 256472 HGNC:28497 ENSG00000179292 transmembrane protein 151A TMEM151A MGC33486, TMEM151 Yes No Ensembl:ENSG00000179292, GeneCard:TMEM151A, HGNC:HGNC:28497, HumanCyc Gene:HS17251, ModBase:Q8N4L1, NCBI Gene:256472, RefSeq DNA:NT_167190, RefSeq Protein:NP_694998, RefSeq RNA:NM_153266, UniProtKB:Q8N4L1 No chr11 66059373 66064135 66291902 66296664 +PA162405899 441151 HGNC:21315 ENSG00000178233 transmembrane protein 151B TMEM151B C6orf137, TMEM193, bA444E17.5 Yes No Ensembl:ENSG00000178233, GeneCard:TMEM151B, HGNC:HGNC:21315, ModBase:Q8IW70, NCBI Gene:441151, RefSeq DNA:NT_007592, RefSeq Protein:NP_001034793, RefSeq Protein:NP_001131032, RefSeq RNA:NM_001039704, RefSeq RNA:NM_001137560, UniProtKB:Q8IW70 No chr6 44238480 44247182 44270743 44279445 +PA145007430 201799 HGNC:26489 ENSG00000170006 transmembrane protein 154 TMEM154 FLJ32028 Yes No Ensembl:ENSG00000170006, GeneCard:TMEM154, HGNC:HGNC:26489, HumanCyc Gene:HS15834, NCBI Gene:201799, RefSeq DNA:NT_016354, RefSeq Protein:NP_689893, RefSeq RNA:NM_152680, UniProtKB:Q6P9G4 No chr4 153547266 153601317 152626114 152680165 +PA166352228 HGNC:26418 transmembrane protein 155 TMEM155 FLJ30834 Yes No HGNC:HGNC:26418 No 0 0 0 0 +PA145007464 80008 HGNC:26260 ENSG00000121895 transmembrane protein 156 TMEM156 FLJ23235 Yes No Comparative Toxicogenomics Database:80008, Ensembl:ENSG00000121895, GeneCard:TMEM156, HGNC:HGNC:26260, HumanCyc Gene:HS13032, ModBase:Q8N614, NCBI Gene:80008, RefSeq DNA:NT_016297, RefSeq Protein:NP_079219, RefSeq RNA:NM_024943, UniProtKB:Q8N614 No chr4 38968052 39034041 38966009 39032670 +PA128395777 25907 HGNC:30293 ENSG00000249992 transmembrane protein 158 TMEM158 Ras induced senescence 1, transmembrane protein 158 (gene/pseudogene) RIS1, p40BBp Yes No Comparative Toxicogenomics Database:25907, Ensembl:ENSG00000249992, GeneCard:TMEM158, HGNC:HGNC:30293, HumanCyc Gene:HS17077, NCBI Gene:25907, RefSeq DNA:NT_022517, RefSeq Protein:NP_056259, RefSeq RNA:NM_015444, UCSC Genome Browser:NM_015444, UniProtKB:Q8WZ71 No chr3 45265956 45267814 45224464 45226322 +PA145147949 54958 HGNC:26042 ENSG00000130748 transmembrane protein 160 TMEM160 FLJ20512 Yes No Ensembl:ENSG00000130748, GeneCard:TMEM160, HGNC:HGNC:26042, HumanCyc Gene:HS13350, NCBI Gene:54958, RefSeq DNA:NT_011109, RefSeq Protein:NP_060324, RefSeq RNA:NM_017854, UniProtKB:Q9NX00 No chr19 47549167 47551882 47045907 47048624 +PA145147959 54929 HGNC:26020 ENSG00000064545 transmembrane protein 161A TMEM161A FLJ20422, FLJ39645 Yes No Comparative Toxicogenomics Database:54929, Ensembl:ENSG00000064545, GeneCard:TMEM161A, HGNC:HGNC:26020, HumanCyc Gene:HS12165, ModBase:Q9NX61, NCBI Gene:54929, RefSeq DNA:NT_011295, RefSeq Protein:NP_060284, RefSeq RNA:NM_017814, UniProtKB:Q9NX61 No chr19 19230425 19249310 19119616 19138501 +PA145147987 153396 HGNC:28483 ENSG00000164180 transmembrane protein 161B TMEM161B MGC33214 Yes No Ensembl:ENSG00000164180, GeneCard:TMEM161B, HGNC:HGNC:28483, HumanCyc Gene:HS15163, ModBase:Q8NDZ6, NCBI Gene:153396, RefSeq DNA:NT_006713, RefSeq Protein:NP_699185, RefSeq RNA:NM_153354, UniProtKB:Q8NDZ6 No chr5 87485450 87564665 88189419 88268917 +PA145148025 81615 HGNC:25380 ENSG00000152128 transmembrane protein 163 TMEM163 DKFZP566N034, SLC30A11, SV31 Yes No Comparative Toxicogenomics Database:81615, Ensembl:ENSG00000152128, GeneCard:TMEM163, HGNC:HGNC:25380, HumanCyc Gene:HS14410, ModBase:Q8TC26, NCBI Gene:81615, RefSeq DNA:NT_022135, RefSeq Protein:NP_112185, RefSeq RNA:NM_030923, UniProtKB:Q8TC26 No chr2 135213330 135478219 134455759 134720934 +PA145148045 84187 HGNC:26217 ENSG00000157600 transmembrane protein 164 TMEM164 FLJ22679, RP13-360B22.2 Yes No Ensembl:ENSG00000157600, GeneCard:TMEM164, HGNC:HGNC:26217, HumanCyc Gene:HS14668, ModBase:Q5U3C3, NCBI Gene:84187, RefSeq DNA:NT_011651, RefSeq Protein:NP_060168, RefSeq Protein:NP_115603, RefSeq Protein:XP_001714529, RefSeq Protein:XP_002343879, RefSeq RNA:NM_017698, RefSeq RNA:NM_032227, RefSeq RNA:XM_001714477, RefSeq RNA:XM_002343838, UniProtKB:B3KSQ8, UniProtKB:Q5U3C3 No chrX 109245641 109421016 110002413 110184438 +PA147357214 55858 HGNC:30760 ENSG00000134851 transmembrane protein 165 TMEM165 TPA regulated locus GDT1, SLC64A1, TMPT27, TPARL Yes No Comparative Toxicogenomics Database:55858, Ensembl:ENSG00000134851, GeneCard:TMEM165, HGNC:HGNC:30760, HumanCyc Gene:HS05921, ModBase:Q9HC07, NCBI Gene:55858, RefSeq DNA:NT_022853, RefSeq Protein:NP_060945, RefSeq RNA:NM_018475, UniProtKB:Q9HC07 No chr4 56262080 56292342 55395913 55453397 +PA162405909 153339 HGNC:28330 ENSG00000174695 transmembrane protein 167A TMEM167A FLJ30508, MGC23909, TMEM167, kish Yes No Ensembl:ENSG00000174695, GeneCard:TMEM167A, HGNC:HGNC:28330, NCBI Gene:153339, RefSeq DNA:NT_006713, RefSeq Protein:NP_777569, RefSeq RNA:NM_174909, UniProtKB:Q8TBQ9 No chr5 82348665 82373272 83052846 83077453 +PA162405910 56900 HGNC:30187 ENSG00000215717 transmembrane protein 167B TMEM167B AD-020, C1orf119, FLJ90710 Yes No Ensembl:ENSG00000215717, GeneCard:TMEM167B, HGNC:HGNC:30187, NCBI Gene:56900, RefSeq DNA:NT_032977, RefSeq Protein:NP_064526, RefSeq RNA:NM_020141, UniProtKB:A6NH33, UniProtKB:Q9NRX6 No chr1 109633403 109639554 109090741 109096934 +PA147357253 64418 HGNC:25826 ENSG00000146802 transmembrane protein 168 TMEM168 DKFZp564C012, FLJ13576 Yes No Ensembl:ENSG00000146802, GeneCard:TMEM168, HGNC:HGNC:25826, HumanCyc Gene:HS14175, ModBase:Q9H0V1, NCBI Gene:64418, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_071929, RefSeq RNA:NM_022484, UniProtKB:Q9H0V1 No chr7 112405364 112430768 112762382 112790713 +PA162405911 92691 HGNC:25130 ENSG00000163449 transmembrane protein 169 TMEM169 FLJ34263 Yes No Ensembl:ENSG00000163449, GeneCard:TMEM169, HGNC:HGNC:25130, HumanCyc Gene:HS15063, NCBI Gene:92691, RefSeq DNA:NT_005403, RefSeq Protein:NP_001135782, RefSeq Protein:NP_001135783, RefSeq Protein:NP_001135784, RefSeq Protein:NP_612399, RefSeq RNA:NM_001142310, RefSeq RNA:NM_001142311, RefSeq RNA:NM_001142312, RefSeq RNA:NM_138390, UniProtKB:Q96HH4 No chr2 216946589 216967506 216081866 216102783 +PA134962933 200728 HGNC:26623 ENSG00000186889 transmembrane protein 17 TMEM17 FLJ34583 Yes No Ensembl:ENSG00000186889, GeneCard:TMEM17, HGNC:HGNC:26623, ModBase:Q86X19, NCBI Gene:200728, RefSeq DNA:NT_022184, RefSeq Protein:NP_938017, RefSeq RNA:NM_198276, UniProtKB:Q86X19 No chr2 62727356 62733604 62452778 62535645 +PA162405922 124491 HGNC:29577 ENSG00000166822 transmembrane protein 170A TMEM170A FLJ37611, TMEM170 Yes No Ensembl:ENSG00000166822, GeneCard:TMEM170A, HGNC:HGNC:29577, HumanCyc Gene:HS15491, ModBase:Q8WVE7, NCBI Gene:124491, RefSeq DNA:NT_010498, RefSeq Protein:NP_660297, RefSeq RNA:NM_145254, UniProtKB:Q8WVE7 No chr16 75477136 75498584 75443060 75464757 +PA162405923 100113407 HGNC:34244 ENSG00000205269 transmembrane protein 170B TMEM170B Yes No Ensembl:ENSG00000205269, GeneCard:TMEM170B, HGNC:HGNC:34244, NCBI Gene:100113407, RefSeq DNA:NT_007592, RefSeq Protein:NP_001094299, RefSeq RNA:NM_001100829, UniProtKB:Q5T4T1 No chr6 11538460 11583757 11538042 11583524 +PA162405933 134285 HGNC:27031 ENSG00000157111 transmembrane protein 171 TMEM171 PRP2 Yes No Ensembl:ENSG00000157111, GeneCard:TMEM171, HGNC:HGNC:27031, NCBI Gene:134285, RefSeq DNA:NT_006713, RefSeq Protein:NP_001154814, RefSeq Protein:NP_775761, RefSeq RNA:NM_001161342, RefSeq RNA:NM_173490, UniProtKB:Q8WVE6 No chr5 72410286 72427765 73120561 73131817 +PA162405935 134288 HGNC:28187 ENSG00000164325 transmembrane protein 174 TMEM174 FLJ31268, MGC13034 Yes No Ensembl:ENSG00000164325, GeneCard:TMEM174, HGNC:HGNC:28187, HumanCyc Gene:HS15186, NCBI Gene:134288, RefSeq DNA:NT_006713, RefSeq Protein:NP_694949, RefSeq RNA:NM_153217, UniProtKB:Q8WUU8 No chr5 72464080 72471073 73173196 73175143 +PA162405946 84286 HGNC:28709 ENSG00000127419 transmembrane protein 175 TMEM175 MGC4618 Yes No Ensembl:ENSG00000127419, GeneCard:TMEM175, HGNC:HGNC:28709, HumanCyc Gene:HS13238, ModBase:Q9BSA9, NCBI Gene:84286, RefSeq DNA:NT_037622, RefSeq Protein:NP_115702, RefSeq RNA:NM_032326, UniProtKB:Q9BSA9 No chr4 926175 952444 932387 958656 +PA162405947 55365 HGNC:24930 ENSG00000002933 transmembrane protein 176A TMEM176A HCA112, MS4B1 Yes No Ensembl:ENSG00000002933, GeneCard:TMEM176A, HGNC:HGNC:24930, HumanCyc Gene:HS11990, ModBase:Q96HP8, NCBI Gene:55365, OMIM:610334, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_060957, RefSeq RNA:NM_018487, UniProtKB:Q96HP8 No chr7 150497854 150502208 150800543 150805120 +PA162405966 28959 HGNC:29596 ENSG00000106565 transmembrane protein 176B TMEM176B LR8, MS4B2 Yes No Ensembl:ENSG00000106565, GeneCard:TMEM176B, HGNC:HGNC:29596, HumanCyc Gene:HS02923, NCBI Gene:28959, OMIM:610385, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001094781, RefSeq Protein:NP_001094782, RefSeq Protein:NP_001094783, RefSeq Protein:NP_001094784, RefSeq Protein:NP_054739, RefSeq RNA:NM_001101311, RefSeq RNA:NM_001101312, RefSeq RNA:NM_001101313, RefSeq RNA:NM_001101314, RefSeq RNA:NM_014020, UniProtKB:Q3YBM2 No chr7 150488375 150498448 150791287 150801360 +PA162405985 80775 HGNC:28143 ENSG00000144120 transmembrane protein 177 TMEM177 MGC10993 Yes No Ensembl:ENSG00000144120, GeneCard:TMEM177, HGNC:HGNC:28143, HumanCyc Gene:HS14006, ModBase:Q53S58, NCBI Gene:80775, RefSeq DNA:NT_022135, RefSeq Protein:NP_001098668, RefSeq Protein:NP_001098669, RefSeq Protein:NP_085054, RefSeq RNA:NM_001105198, RefSeq RNA:NM_001105199, RefSeq RNA:NM_030577, UniProtKB:Q53S58 No chr2 120436743 120439694 119679167 119682118 +PA162405994 130733 HGNC:28517 ENSG00000152154 transmembrane protein 178A TMEM178A MGC33926, TMEM178 Yes No Ensembl:ENSG00000152154, GeneCard:TMEM178, HGNC:HGNC:28517, HumanCyc Gene:HS14413, NCBI Gene:130733, RefSeq DNA:NT_022184, RefSeq Protein:NP_001161431, RefSeq Protein:NP_689603, RefSeq RNA:NM_001167959, RefSeq RNA:NM_152390, UniProtKB:Q8NBL3 No chr2 39892638 39945103 39665087 39717963 +PA166049105 100507421 HGNC:44112 ENSG00000261115 transmembrane protein 178B TMEM178B DKFZp547G036 Yes No Ensembl:ENSG00000261115, HGNC:HGNC:44112, NCBI Gene:100507421 No chr7 140774032 141180180 141073402 141511338 +PA162405995 388021 HGNC:20137 ENSG00000258986 transmembrane protein 179 TMEM179 C14orf90, FLJ42486, TMEM179A Yes No Ensembl:ENSG00000258986, GeneCard:TMEM179, HGNC:HGNC:20137, NCBI Gene:388021, RefSeq DNA:NT_026437, RefSeq Protein:NP_997262, RefSeq RNA:NM_207379, UniProtKB:Q6ZVK1 No chr14 105059330 105071097 104590864 104604787 +PA162405996 374395 HGNC:33744 ENSG00000185475 transmembrane protein 179B TMEM179B Yes No Ensembl:ENSG00000185475, GeneCard:TMEM179B, HGNC:HGNC:33744, ModBase:Q7Z7N9, NCBI Gene:374395, RefSeq DNA:NT_167190, RefSeq Protein:NP_955369, RefSeq RNA:NM_199337, UniProtKB:Q7Z7N9 No chr11 62554281 62557872 62787321 62790400 +PA134873089 129787 HGNC:25257 ENSG00000151353 transmembrane protein 18 TMEM18 DKFZp434C1714, lncND Yes No Ensembl:ENSG00000151353, GeneCard:TMEM18, HGNC:HGNC:25257, HumanCyc Gene:HS14363, NCBI Gene:129787, OMIM:613220, RefSeq DNA:NT_022221, RefSeq Protein:NP_690047, RefSeq RNA:NM_152834, UniProtKB:Q96B42 No chr2 667793 677439 667973 677439 +PA162406036 57583 HGNC:20958 ENSG00000146433 transmembrane protein 181 TMEM181 GPR178, KIAA1423 Yes No Ensembl:ENSG00000146433, GeneCard:TMEM181, HGNC:HGNC:20958, NCBI Gene:57583, OMIM:613209, RefSeq DNA:NT_007422, RefSeq DNA:NT_025741, RefSeq Protein:NP_065874, RefSeq Protein:XP_376550, RefSeq Protein:XP_946786, RefSeq RNA:NM_020823, RefSeq RNA:XM_376550, RefSeq RNA:XM_941693, UniProtKB:Q9P2C4 No chr6 158957468 159056467 158536432 158635435 +PA162406075 130827 HGNC:26391 ENSG00000170417 transmembrane protein 182 TMEM182 FLJ30294 Yes No Ensembl:ENSG00000170417, GeneCard:TMEM182, HGNC:HGNC:26391, HumanCyc Gene:HS15877, NCBI Gene:130827, RefSeq DNA:NT_022171, RefSeq Protein:NP_653233, RefSeq RNA:NM_144632, UniProtKB:Q6ZP80 No chr2 103378490 103450948 102736906 102843838 +PA162406090 92703 HGNC:20173 ENSG00000163444 transmembrane protein 183A TMEM183A C1orf37 Yes No Ensembl:ENSG00000163444, GeneCard:TMEM183A, HGNC:HGNC:20173, HumanCyc Gene:HS15062, ModBase:Q8IXX5, NCBI Gene:92703, RefSeq DNA:NT_004487, RefSeq Protein:NP_612400, RefSeq RNA:NM_138391, UniProtKB:A8K5W1, UniProtKB:Q8IXX5 No chr1 202976520 202993976 203007367 203024848 +PA162406118 202915 HGNC:28797 ENSG00000164855 transmembrane protein 184A TMEM184A sexually dimorphic, expressed in male gonads 1 MGC9712, SDMG1, SLC51C1 Yes No Ensembl:ENSG00000164855, GeneCard:TMEM184A, HGNC:HGNC:28797, HumanCyc Gene:HS15248, NCBI Gene:202915, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001091089, RefSeq RNA:NM_001097620, UniProtKB:Q6ZMB5 No chr7 1581871 1596066 1542235 1560821 +PA162406140 25829 HGNC:1310 ENSG00000198792 transmembrane protein 184B TMEM184B C22orf5, DKFZP586A1024, FM08, HS5O6A, SLC51C2 Yes No Ensembl:ENSG00000198792, GeneCard:TMEM184B, HGNC:HGNC:1310, ModBase:Q9Y519, NCBI Gene:25829, RefSeq DNA:NT_011520, RefSeq Protein:NP_001182000, RefSeq Protein:NP_001182001, RefSeq Protein:NP_036396, RefSeq RNA:NM_001195071, RefSeq RNA:NM_001195072, RefSeq RNA:NM_012264, UniProtKB:Q9Y519 No chr22 38612415 38669040 38216045 38273034 +PA162406163 55751 HGNC:25587 ENSG00000164168 transmembrane protein 184C TMEM184C FLJ10846, SLC51C3, TMEM34 Yes No Ensembl:ENSG00000164168, GeneCard:TMEM184C, HGNC:HGNC:25587, HumanCyc Gene:HS15161, NCBI Gene:55751, RefSeq DNA:NT_016354, RefSeq Protein:NP_060711, RefSeq RNA:NM_018241, UniProtKB:Q9NVA4 No chr4 148538539 148556674 147617371 147637273 +PA27062 84548 HGNC:17125 ENSG00000269556 transmembrane protein 185A TMEM185A CXorf13, FAM11A, FRAXF Yes No Comparative Toxicogenomics Database:84548, Ensembl:ENSG00000269556, GenAtlas:FAM11A, GeneCard:FAM11A, GeneCard:TMEM185A, HGNC:HGNC:17125, HumanCyc Gene:HS14594, NCBI Gene:84548, OMIM:300031, OMIM:300483, RefSeq DNA:NG_016831, RefSeq DNA:NT_011681, RefSeq Protein:NP_001167563, RefSeq Protein:NP_115897, RefSeq RNA:NM_001174092, RefSeq RNA:NM_032508, UniProtKB:B7Z4G6, UniProtKB:Q8NFB2 No chrX 148678216 148713487 149596556 149631912 +PA162406189 100506205 HGNC:31717 ENSG00000235254 transmembrane protein 185A pseudogene 1 TMEM185AP1 Yes No Ensembl:ENSG00000235254, GeneCard:TMEM185AL, HGNC:HGNC:31717, NCBI Gene:100506205 No chrX 148850544 148854484 149768883 149772826 +PA166048952 79134 HGNC:18896 ENSG00000226479 transmembrane protein 185B TMEM185B FAM11B, FLJ20979 Yes No Ensembl:ENSG00000226479, HGNC:HGNC:18896, NCBI Gene:79134, RefSeq DNA:NT_022135, RefSeq Protein:NP_077026, RefSeq RNA:NM_024121, RefSeq RNA:NR_000034, UniProtKB:Q9H7F4 No chr2 120975047 120980984 120217471 120223408 +PA162406190 25880 HGNC:24530 ENSG00000184857 transmembrane protein 186 TMEM186 C16orf51, DKFZP564K2062 Yes No Ensembl:ENSG00000184857, GeneCard:TMEM186, HGNC:HGNC:24530, NCBI Gene:25880, RefSeq DNA:NT_010393, RefSeq Protein:NP_056236, RefSeq RNA:NM_015421, UniProtKB:Q96B77 No chr16 8889037 8891505 8795180 8797648 +PA162406199 8269 HGNC:13705 ENSG00000177854 transmembrane protein 187 TMEM187 CXorf12, DXS9878E, ITBA1 Yes No Ensembl:ENSG00000177854, GeneCard:TMEM187, HGNC:HGNC:13705, HumanCyc Gene:HS11222, ModBase:Q14656, NCBI Gene:8269, OMIM:300059, RefSeq DNA:NG_021222, RefSeq DNA:NT_167198, RefSeq Protein:NP_003483, RefSeq RNA:NM_003492, UniProtKB:Q14656 No chrX 153237991 153248646 153972540 153983195 +PA162406226 387522 HGNC:33521 TMEM189-UBE2V1 readthrough TMEM189-UBE2V1 CROC-1B, Kua-UEV Yes No GeneCard:TMEM189-UBE2V1, HGNC:HGNC:33521, NCBI Gene:387522, RefSeq DNA:NT_011362, RefSeq Protein:NP_003340, RefSeq Protein:NP_954673, RefSeq RNA:NM_003349, RefSeq RNA:NM_199203, UniProtKB:A5PLL7 No chr20 48697661 48770335 50081124 50153798 +PA134909388 55266 HGNC:25605 ENSG00000139291 transmembrane protein 19 TMEM19 FLJ10936 Yes No Comparative Toxicogenomics Database:55266, Ensembl:ENSG00000139291, GeneCard:TMEM19, HGNC:HGNC:25605, HumanCyc Gene:HS13771, ModBase:Q96HH6, NCBI Gene:55266, RefSeq DNA:NT_029419, RefSeq Protein:NP_060749, RefSeq RNA:NM_018279, UniProtKB:Q96HH6 No chr12 72079878 72097840 71686098 71704060 +PA162406247 147744 HGNC:29632 ENSG00000160472 transmembrane protein 190 TMEM190 MDAC1 Yes No Ensembl:ENSG00000160472, GeneCard:TMEM190, HGNC:HGNC:29632, HumanCyc Gene:HS14815, NCBI Gene:147744, RefSeq DNA:NT_011109, RefSeq Protein:NP_631911, RefSeq RNA:NM_139172, UniProtKB:Q8WZ59 No chr19 55888204 55889612 55376126 55378246 +PA164726509 84222 HGNC:25317 ENSG00000226287 transmembrane protein 191A (pseudogene) TMEM191A DKFZp434N035, TMEM191AP Yes No Ensembl:ENSG00000226287, GeneCard:TMEM191A, HGNC:HGNC:25317, NCBI Gene:84222, RefSeq DNA:NT_011520, RefSeq RNA:NR_026815 No chr22 21055402 21058891 20701114 20704603 +PA162406248 728229 HGNC:33600 ENSG00000278558 transmembrane protein 191B TMEM191B Yes No Ensembl:ENSG00000278558, GeneCard:TMEM191B, HGNC:HGNC:33600, ModBase:P0C7N4, NCBI Gene:728229, RefSeq DNA:NT_011519, RefSeq Protein:NP_001229242, RefSeq Protein:XP_001128423, RefSeq RNA:NM_001242313, RefSeq RNA:XM_001128423 No chr22 20377669 20380440 18527802 18531920 +PA164726513 645426 HGNC:33601 ENSG00000206140 transmembrane protein 191C TMEM191C Yes No Ensembl:ENSG00000206140, GeneCard:TMEM191C, HGNC:HGNC:33601, NCBI Gene:645426, RefSeq DNA:NT_011520, RefSeq Protein:NP_001193981, RefSeq Protein:XP_001725903, RefSeq Protein:XP_002348130, RefSeq Protein:XP_933559, RefSeq RNA:NM_001207052, RefSeq RNA:XM_001725851, RefSeq RNA:XM_002348089, RefSeq RNA:XM_928466 No chr22 21821459 21824224 21467170 21469935 +PA162406273 201931 HGNC:26775 ENSG00000170088 transmembrane protein 192 TMEM192 FLJ38482 Yes No Ensembl:ENSG00000170088, GeneCard:TMEM192, HGNC:HGNC:26775, HumanCyc Gene:HS15842, ModBase:Q8IY95, NCBI Gene:201931, RefSeq DNA:NT_016354, RefSeq Protein:NP_001093859, RefSeq RNA:NM_001100389, UniProtKB:Q8IY95 No chr4 165997230 166034024 165076078 165112913 +PA162406335 256130 HGNC:22431 ENSG00000173452 transmembrane protein 196 TMEM196 MGC42090 Yes Yes Ensembl:ENSG00000173452, GeneCard:TMEM196, HGNC:HGNC:22431, HumanCyc Gene:HS16213, NCBI Gene:256130, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_689987, RefSeq RNA:NM_152774, UniProtKB:Q5HYL7 No chr7 19758938 19812404 19719315 19773700 +PA162406347 130612 HGNC:33704 ENSG00000188760 transmembrane protein 198 TMEM198 MGC99813, TMEM198A Yes No Ensembl:ENSG00000188760, GeneCard:TMEM198, HGNC:HGNC:33704, NCBI Gene:130612, RefSeq DNA:NT_005403, RefSeq Protein:NP_001005209, RefSeq RNA:NM_001005209, UniProtKB:Q66K66 No chr2 220408385 220415317 219543663 219550595 +PA162406348 147007 HGNC:18085 ENSG00000244045 transmembrane protein 199 TMEM199 C17orf32, MGC45714, VMA12, VPH2 Yes No Ensembl:ENSG00000244045, GeneCard:TMEM199, HGNC:HGNC:18085, ModBase:Q8N511, NCBI Gene:147007, RefSeq DNA:NT_010799, RefSeq Protein:NP_689677, RefSeq RNA:NM_152464, UniProtKB:Q8N511 No chr17 26684687 26689089 28357581 28363683 +PA162406349 114801 HGNC:21075 ENSG00000164484 transmembrane protein 200A TMEM200A KIAA1913, TTMC Yes No Ensembl:ENSG00000164484, GeneCard:TMEM200A, HGNC:HGNC:21075, ModBase:Q86VY9, NCBI Gene:114801, RefSeq DNA:NT_025741, RefSeq Protein:NP_443145, RefSeq RNA:NM_052913, UniProtKB:A8K2A1, UniProtKB:Q86VY9 No chr6 130687426 130764569 130366281 130443424 +PA162406350 399474 HGNC:33785 ENSG00000253304 transmembrane protein 200B TMEM200B TTMB Yes No Ensembl:ENSG00000253304, GeneCard:TMEM200B, HGNC:HGNC:33785, ModBase:Q69YZ2, NCBI Gene:399474, RefSeq DNA:NT_004610, RefSeq Protein:NP_001003682, RefSeq Protein:NP_001165339, RefSeq RNA:NM_001003682, RefSeq RNA:NM_001171868, UniProtKB:Q69YZ2 No chr1 29445937 29450421 29119425 29129138 +PA165429148 645369 HGNC:37208 ENSG00000206432 transmembrane protein 200C TMEM200C TTMA Yes No Ensembl:ENSG00000206432, GeneCard:TMEM200C, HGNC:HGNC:37208, NCBI Gene:645369, RefSeq DNA:NT_010859, RefSeq Protein:NP_001073678, RefSeq RNA:NM_001080209, UniProtKB:A6NKL6 No chr18 5889411 5895373 5889412 5898701 +PA162406359 199953 HGNC:33719 ENSG00000188807 transmembrane protein 201 TMEM201 spindle associated membrane protein 1 Ima1, NET5, RP13-15M17.2, SAMP1 Yes No Ensembl:ENSG00000188807, GeneCard:TMEM201, HGNC:HGNC:33719, NCBI Gene:199953, RefSeq DNA:NT_021937, RefSeq Protein:NP_001010866, RefSeq Protein:NP_001124396, RefSeq RNA:NM_001010866, RefSeq RNA:NM_001130924, UniProtKB:Q5SNT2 No chr1 9648932 9674935 9588843 9614877 +PA162406376 338949 HGNC:33733 ENSG00000187806 transmembrane protein 202 TMEM202 FLJ27523 Yes No Ensembl:ENSG00000187806, GeneCard:TMEM202, HGNC:HGNC:33733, NCBI Gene:338949, RefSeq DNA:NT_010194, RefSeq Protein:NP_001073931, RefSeq RNA:NM_001080462, UniProtKB:A6NGA9 No chr15 72690668 72700708 72398320 72408367 +PA162406377 94107 HGNC:28217 ENSG00000187713 transmembrane protein 203 TMEM203 HBeAg-binding protein 1 HBEBP1, MGC14327 Yes No Ensembl:ENSG00000187713, GeneCard:TMEM203, HGNC:HGNC:28217, ModBase:Q969S6, NCBI Gene:94107, RefSeq DNA:NT_024000, RefSeq Protein:NP_444273, RefSeq RNA:NM_053045, UniProtKB:Q969S6 No chr9 140098534 140100090 137204082 137205638 +PA162406384 79652 HGNC:14158 ENSG00000131634 transmembrane protein 204 TMEM204 claudin-like protein of 24 kDa C16orf30, CLP24, FLJ20898 Yes No Ensembl:ENSG00000131634, GeneCard:TMEM204, HGNC:HGNC:14158, HumanCyc Gene:HS13392, ModBase:Q9BSN7, NCBI Gene:79652, OMIM:611002, RefSeq DNA:NT_010393, RefSeq Protein:NP_078876, RefSeq RNA:NM_024600, UniProtKB:Q9BSN7 No chr16 1578742 1605581 1528741 1555580 +PA162406385 374882 HGNC:29631 ENSG00000105518 transmembrane protein 205 TMEM205 MBC3205, UNQ501 Yes Yes Ensembl:ENSG00000105518, GeneCard:TMEM205, HGNC:HGNC:29631, NCBI Gene:374882, RefSeq DNA:NT_011295, RefSeq Protein:NP_001138888, RefSeq Protein:NP_212133, RefSeq Protein:NP_940938, RefSeq RNA:NM_001145416, RefSeq RNA:NM_033408, RefSeq RNA:NM_198536, UniProtKB:Q6UW68 No chr19 11453452 11457065 11342512 11346305 +PA162406407 131920 HGNC:33705 ENSG00000198398 transmembrane protein 207 TMEM207 Yes No Ensembl:ENSG00000198398, GeneCard:TMEM207, HGNC:HGNC:33705, NCBI Gene:131920, RefSeq DNA:NT_005612, RefSeq Protein:NP_997199, RefSeq RNA:NM_207316, UniProtKB:Q6UWW9 No chr3 190146444 190167665 190428655 190449876 +PA162406408 29100 HGNC:25015 ENSG00000168701 transmembrane protein 208 TMEM208 SRP-independent targeting 2 homolog HSPC171, SND2, hSND2 Yes No Ensembl:ENSG00000168701, GeneCard:TMEM208, HGNC:HGNC:25015, HumanCyc Gene:HS15699, NCBI Gene:29100, RefSeq DNA:NT_010498, RefSeq Protein:NP_054906, RefSeq RNA:NM_014187, UniProtKB:Q9BTX3 No chr16 67261006 67263182 67227113 67229279 +PA162406425 84928 HGNC:21898 ENSG00000146842 transmembrane protein 209 TMEM209 FLJ14803, NET31 Yes No Ensembl:ENSG00000146842, GeneCard:TMEM209, HGNC:HGNC:21898, HumanCyc Gene:HS14177, ModBase:Q96SK2, NCBI Gene:84928, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_116231, RefSeq RNA:NM_032842, UniProtKB:Q96SK2 No chr7 129804555 129845338 130164713 130205498 +PA162406460 100505993 HGNC:34059 ENSG00000185863 transmembrane protein 210 TMEM210 Yes No Ensembl:ENSG00000185863, GeneCard:TMEM210, HGNC:HGNC:34059, NCBI Gene:100505993, RefSeq DNA:NT_024000, RefSeq Protein:XP_001715074, RefSeq Protein:XP_001716345, RefSeq Protein:XP_001717838, RefSeq RNA:XM_001715022, RefSeq RNA:XM_001716293, RefSeq RNA:XM_001717786 No chr9 140065319 140066496 137170928 137172046 +PA162406475 389177 HGNC:34295 ENSG00000186329 transmembrane protein 212 TMEM212 FLJ23172 Yes No Ensembl:ENSG00000186329, GeneCard:TMEM212, HGNC:HGNC:34295, NCBI Gene:389177, RefSeq DNA:NT_005612, RefSeq Protein:NP_001157908, RefSeq Protein:XP_002342424, RefSeq Protein:XP_002345735, RefSeq Protein:XP_002346582, RefSeq RNA:NM_001164436, RefSeq RNA:XM_002342383, RefSeq RNA:XM_002345694, RefSeq RNA:XM_002346541, UniProtKB:A6NML5 No chr3 171561139 171577108 171843339 171859318 +PA162406494 155006 HGNC:27220 ENSG00000214128 transmembrane protein 213 TMEM213 Yes No Ensembl:ENSG00000214128, GeneCard:TMEM213, HGNC:HGNC:27220, NCBI Gene:155006, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001078898, RefSeq RNA:NM_001085429, UniProtKB:A2RRL7 No chr7 138482664 138490769 138797487 138806759 +PA162406505 54867 HGNC:25983 ENSG00000119777 transmembrane protein 214 TMEM214 FLJ20254 Yes No Ensembl:ENSG00000119777, GeneCard:TMEM214, HGNC:HGNC:25983, HumanCyc Gene:HS04339, ModBase:Q6NUQ4, NCBI Gene:54867, RefSeq DNA:NT_022184, RefSeq Protein:NP_001077059, RefSeq Protein:NP_060197, RefSeq RNA:NM_001083590, RefSeq RNA:NM_017727, UniProtKB:B3KUI9, UniProtKB:B5MCD8, UniProtKB:Q6NUQ4 No chr2 27255774 27264565 27032906 27041697 +PA162406544 401498 HGNC:33816 ENSG00000188133 transmembrane protein 215 TMEM215 Yes No Ensembl:ENSG00000188133, GeneCard:TMEM215, HGNC:HGNC:33816, ModBase:Q68D42, NCBI Gene:401498, RefSeq DNA:NT_008413, RefSeq Protein:NP_997723, RefSeq RNA:NM_212558, UniProtKB:Q68D42 No chr9 32783497 32789199 32783499 32789201 +PA162406553 51259 HGNC:25018 ENSG00000187049 transmembrane protein 216 TMEM216 CORS2, HSPC244, JBTS2, MGC13379, MKS2 Yes No Ensembl:ENSG00000187049, GeneCard:TMEM216, HGNC:HGNC:25018, HumanCyc Gene:HS14288, NCBI Gene:51259, OMIM:603194, OMIM:608091, OMIM:613277, RefSeq DNA:NT_167190, RefSeq Protein:NP_001167461, RefSeq Protein:NP_001167462, RefSeq Protein:NP_057583, RefSeq RNA:NM_001173990, RefSeq RNA:NM_001173991, RefSeq RNA:NM_016499, UniProtKB:B7Z8N1, UniProtKB:Q9P0N5 No chr11 61159832 61166335 61391687 61398863 +PA162406568 221468 HGNC:21238 ENSG00000172738 transmembrane protein 217 TMEM217 C6orf128, dJ355M6.2 Yes No Ensembl:ENSG00000172738, GeneCard:TMEM217, HGNC:HGNC:21238, HumanCyc Gene:HS16124, NCBI Gene:221468, RefSeq DNA:NT_007592, RefSeq Protein:NP_001156372, RefSeq Protein:NP_660359, RefSeq RNA:NM_001162900, RefSeq RNA:NM_145316, UniProtKB:Q8N7C4 No chr6 37179954 37225931 37212178 37259034 +PA166352229 121725057 HGNC:55922 transmembrane protein 217B TMEM217B Yes No HGNC:HGNC:55922, NCBI Gene:121725057 No 0 0 0 0 +PA162406569 219854 HGNC:27344 ENSG00000150433 transmembrane protein 218 TMEM218 Yes No Ensembl:ENSG00000150433, GeneCard:TMEM218, HGNC:HGNC:27344, NCBI Gene:219854, RefSeq DNA:NT_033899, RefSeq Protein:NP_001074015, RefSeq RNA:NM_001080546, UniProtKB:A2RU14 No chr11 124964266 124981659 125094370 125111763 +PA162406570 124446 HGNC:25201 ENSG00000149932 transmembrane protein 219 TMEM219 IGFBP-3R Yes No Ensembl:ENSG00000149932, GeneCard:TMEM219, HGNC:HGNC:25201, ModBase:Q86XT9, NCBI Gene:124446, RefSeq DNA:NT_010393, RefSeq Protein:NP_001077082, RefSeq Protein:NP_919256, RefSeq RNA:NM_001083613, RefSeq RNA:NM_194280, UniProtKB:Q86XT9 No chr16 29973351 29984373 29962030 29973052 +PA162406587 388335 HGNC:33757 ENSG00000187824 transmembrane protein 220 TMEM220 Yes No Ensembl:ENSG00000187824, GeneCard:TMEM220, HGNC:HGNC:33757, NCBI Gene:388335, RefSeq DNA:NT_010718, RefSeq Protein:NP_001004313, RefSeq RNA:NM_001004313, UniProtKB:Q6QAJ8 No chr17 10616631 10633646 10711084 10730329 +PA162406588 100130519 HGNC:21943 ENSG00000188051 transmembrane protein 221 TMEM221 Jiraiya Yes No Ensembl:ENSG00000188051, GeneCard:TMEM221, HGNC:HGNC:21943, NCBI Gene:100130519, RefSeq DNA:NT_011295, RefSeq Protein:NP_001177773, RefSeq Protein:XP_001718804, RefSeq Protein:XP_001719748, RefSeq RNA:NM_001190844, RefSeq RNA:XM_001718752, RefSeq RNA:XM_001719696 No chr19 17546318 17559376 17435509 17448839 +PA162406598 84065 HGNC:25363 ENSG00000186501 transmembrane protein 222 TMEM222 C1orf160, DKFZP564D0478 Yes No Ensembl:ENSG00000186501, GeneCard:TMEM222, HGNC:HGNC:25363, HumanCyc Gene:HS06960, NCBI Gene:84065, RefSeq DNA:NT_004610, RefSeq Protein:NP_115501, RefSeq RNA:NM_032125, RefSeq RNA:NR_037576, RefSeq RNA:NR_037577, RefSeq RNA:NR_037580, UniProtKB:Q9H0R3 No chr1 27648636 27662891 27322145 27336400 +PA164726538 79064 HGNC:28464 ENSG00000168569 transmembrane protein 223 TMEM223 MGC3196, Mrx15 Yes No Ensembl:ENSG00000168569, GeneCard:TMEM223, HGNC:HGNC:28464, NCBI Gene:79064, RefSeq DNA:NT_167190, RefSeq Protein:NP_001073970, RefSeq RNA:NM_001080501, UniProtKB:A0PJW6 No chr11 62557787 62559486 62790315 62792014 +PA164726548 338661 HGNC:32390 ENSG00000204300 transmembrane protein 225 TMEM225 """PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"", ""spermatogenesis associated 47""" PMP22CD, PPP1R154, SPATA47 Yes No Ensembl:ENSG00000204300, GeneCard:TMEM225, HGNC:HGNC:32390, NCBI Gene:338661, RefSeq DNA:NT_033899, RefSeq Protein:NP_001013765, RefSeq RNA:NM_001013743, UniProtKB:Q6GV28 No chr11 123753633 123756340 123882920 123886763 +PA166181673 100289187 HGNC:53075 ENSG00000244219 transmembrane protein 225B TMEM225B Yes No Ensembl:ENSG00000244219, HGNC:HGNC:53075, NCBI Gene:100289187 No 0 0 0 0 +PA165618420 730130 HGNC:37279 ENSG00000234224 transmembrane protein 229A TMEM229A Yes No Ensembl:ENSG00000234224, GeneCard:TMEM229A, HGNC:HGNC:37279, NCBI Gene:730130, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001129474, RefSeq RNA:NM_001136002, UniProtKB:B2RXF0 No chr7 123670970 123673523 124030916 124033469 +PA165479330 161145 HGNC:20130 ENSG00000198133 transmembrane protein 229B TMEM229B C14orf83, FLJ33387 Yes No Ensembl:ENSG00000198133, GeneCard:TMEM229B, HGNC:HGNC:20130, ModBase:Q8NBD8, NCBI Gene:161145, RefSeq DNA:NT_026437, RefSeq Protein:NP_872332, RefSeq RNA:NM_182526, UniProtKB:Q8NBD8 No chr14 67913801 67982445 67470266 67534350 +PA25746 29058 HGNC:15876 ENSG00000089063 transmembrane protein 230 TMEM230 C20orf30, HSPC274 Yes No Ensembl:ENSG00000089063, GenAtlas:C20orf30, GeneCard:C20orf30, HGNC:HGNC:15876, HumanCyc Gene:HS12318, NCBI Gene:29058, RefSeq DNA:NT_011387, RefSeq Protein:NP_001009923, RefSeq Protein:NP_001009924, RefSeq Protein:NP_001009925, RefSeq Protein:NP_054864, RefSeq RNA:NM_001009923, RefSeq RNA:NM_001009924, RefSeq RNA:NM_001009925, RefSeq RNA:NM_014145, UCSC Genome Browser:NM_014145, UniProtKB:Q96A57 No chr20 5049129 5093736 5068483 5113087 +PA165450754 79583 HGNC:37234 ENSG00000205084 transmembrane protein 231 TMEM231 ALYE870, FLJ22167, JBTS20, MKS11, PRO1886 Yes No Ensembl:ENSG00000205084, GeneCard:TMEM231, HGNC:HGNC:37234, HumanCyc Gene:HS06052, NCBI Gene:79583, RefSeq DNA:NT_010498, RefSeq Protein:NP_001070884, RefSeq Protein:NP_001070886, RefSeq Protein:NP_001070887, RefSeq RNA:NM_001077416, RefSeq RNA:NM_001077418, RefSeq RNA:NM_001077419, UniProtKB:B3KU85, UniProtKB:Q6P450, UniProtKB:Q9H6L2 No chr16 75572015 75590184 75538117 75556286 +PA165660571 642987 HGNC:37270 ENSG00000186952 transmembrane protein 232 TMEM232 FLJ43080 Yes No Ensembl:ENSG00000186952, GeneCard:TMEM232, HGNC:HGNC:37270, NCBI Gene:642987, RefSeq DNA:NT_034772, RefSeq Protein:NP_001034852, RefSeq RNA:NM_001039763, UniProtKB:C9JQI7 No chr5 109755197 110062507 110387255 110738936 +PA165513584 387890 HGNC:37219 ENSG00000224982 transmembrane protein 233 TMEM233 dispanin subfamily B member 2, interferon induced transmembrane protein domain containing 2 DSPB2, IFITMD2 Yes No Ensembl:ENSG00000224982, GeneCard:TMEM233, HGNC:HGNC:37219, NCBI Gene:387890, RefSeq DNA:NT_009775, RefSeq Protein:NP_001130006, RefSeq RNA:NM_001136534, UniProtKB:B4DJY2 No chr12 120031264 120079861 119592123 119654455 +PA142672475 56063 HGNC:28837 ENSG00000160055 transmembrane protein 234 TMEM234 C1orf91, FLJ90779, RP4-622L5, dJ622L5.7 Yes No Ensembl:ENSG00000160055, GeneCard:C1orf91, HGNC:HGNC:28837, HumanCyc Gene:HS14791, ModBase:Q8WY98, NCBI Gene:56063, RefSeq DNA:NT_032977, RefSeq Protein:NP_061991, RefSeq RNA:NM_019118, UniProtKB:Q8WY98 No chr1 32680040 32687954 32204807 32222371 +PA166048981 283999 HGNC:27563 ENSG00000204278 transmembrane protein 235 TMEM235 Yes No Ensembl:ENSG00000204278, HGNC:HGNC:27563, NCBI Gene:283999 No chr17 76227391 76237068 78231310 78242849 +PA134931867 653567 HGNC:23473 ENSG00000148483 transmembrane protein 236 TMEM236 FAM23A, FAM23B, bA162I21.2, bA16O1.2 Yes No Ensembl:ENSG00000148483, GeneCard:TMEM236, HGNC:HGNC:23473, ModBase:Q5W0B7, NCBI Gene:653567, RefSeq DNA:NT_008705, RefSeq Protein:NP_001092314, RefSeq RNA:NM_001098844, UniProtKB:Q5W0B7 No chr10 17794260 17842866 17752110 17800916 +PA24745 65062 HGNC:14432 ENSG00000155755 transmembrane protein 237 TMEM237 ALS2CR4, JBTS14 Yes No Ensembl:ENSG00000155755, GenAtlas:ALS2CR4, GeneCard:ALS2CR4, HGNC:HGNC:14432, NCBI Gene:65062, RefSeq DNA:NT_005403, RefSeq Protein:NP_001037850, RefSeq Protein:NP_689601, RefSeq RNA:NM_001044385, RefSeq RNA:NM_152388, UCSC Genome Browser:NM_152388, UniProtKB:Q96Q45 No chr2 202484907 202508252 201620184 201643529 +PA166049062 388564 HGNC:40042 ENSG00000233493 transmembrane protein 238 TMEM238 Yes No Ensembl:ENSG00000233493, HGNC:HGNC:40042, NCBI Gene:388564 No chr19 55890612 55895627 55379244 55384259 +PA166352230 100289255 HGNC:44356 transmembrane protein 238 like TMEM238L FOXA1-Regulated Conserved Small Protein, LINC00675 FORCP Yes No HGNC:HGNC:44356, NCBI Gene:100289255 No 0 0 0 0 +PA166049063 100288797 HGNC:40044 ENSG00000198326 transmembrane protein 239 TMEM239 Yes No Ensembl:ENSG00000198326, HGNC:HGNC:40044, NCBI Gene:100288797 No chr20 2796585 2797804 2815871 2820284 +PA142672520 339453 HGNC:25186 ENSG00000205090 transmembrane protein 240 TMEM240 C1orf70, SCA21 Yes No Ensembl:ENSG00000205090, GeneCard:C1orf70, HGNC:HGNC:25186, NCBI Gene:339453, RefSeq DNA:NT_004350, RefSeq Protein:NP_001108220, RefSeq RNA:NM_001114748, UniProtKB:Q5SV17 No chr1 1470158 1475740 1534778 1540360 +PA134952915 85019 HGNC:31723 ENSG00000134490 transmembrane protein 241 TMEM241 solute carrier family 35 member D4 C18orf45, FLJ44259, MGC11386, SLC35D4 Yes No Ensembl:ENSG00000134490, GeneCard:C18orf45, HGNC:HGNC:31723, HumanCyc Gene:HS13531, ModBase:Q24JQ0, NCBI Gene:85019, RefSeq DNA:NT_010966, RefSeq Protein:NP_116322, RefSeq RNA:NM_032933, UniProtKB:Q24JQ0 No chr18 20875977 21017925 23237252 23437969 +PA25936 729515 HGNC:17206 ENSG00000215712 transmembrane protein 242 TMEM242 BM033, C6orf35 Yes No Ensembl:ENSG00000215712, GenAtlas:C6orf35, GeneCard:TMEM242, HGNC:HGNC:17206, NCBI Gene:729515, RefSeq DNA:NT_025741, RefSeq Protein:NP_060922, RefSeq RNA:NM_018452, UCSC Genome Browser:NM_018452, UniProtKB:Q9NWH2 No chr6 157710054 157745253 157289022 157324259 +PA134985688 79161 HGNC:21707 ENSG00000135185 transmembrane protein 243 TMEM243 """MDR1 and mitochondrial taxol resistance associated gene"", ""transmembrane protein 243, mitochondrial""" C7orf23, MGC4175, MM-TRAG Yes No Ensembl:ENSG00000135185, GeneCard:C7orf23, HGNC:HGNC:21707, HumanCyc Gene:HS13562, ModBase:Q9BU79, NCBI Gene:79161, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_077291, RefSeq RNA:NM_024315, UniProtKB:Q9BU79 No chr7 86825477 86849889 87195593 87220603 +PA134909151 253582 HGNC:21571 ENSG00000203756 transmembrane protein 244 TMEM244 C6orf191, bA174C7.4 Yes No Ensembl:ENSG00000203756, GeneCard:C6orf191, HGNC:HGNC:21571, ModBase:Q5VVB8, NCBI Gene:253582, RefSeq DNA:NT_025741, RefSeq Protein:NP_001010876, RefSeq RNA:NM_001010876, UniProtKB:Q5VVB8 No chr6 130152389 130182416 129831244 129861622 +PA25980 23731 HGNC:1363 ENSG00000106771 transmembrane protein 245 TMEM245 C9orf5, CG-2 Yes No Ensembl:ENSG00000106771, GenAtlas:C9orf5, GeneCard:C9orf5, HGNC:HGNC:1363, HumanCyc Gene:HS02948, NCBI Gene:23731, RefSeq DNA:NT_008470, RefSeq Protein:NP_001093204, RefSeq Protein:NP_114401, RefSeq RNA:NM_001099734, RefSeq RNA:NM_032012, UCSC Genome Browser:NM_032012, UniProtKB:Q9H330 No chr9 111777415 111882225 109015135 109119963 +PA166049093 388946 HGNC:42967 ENSG00000284701 transmembrane protein 247 TMEM247 Yes No Ensembl:ENSG00000284701, HGNC:HGNC:42967, NCBI Gene:388946 No chr2 46706704 46711564 46479565 46484425 +PA147358581 55069 HGNC:25476 ENSG00000106609 transmembrane protein 248 TMEM248 C7orf42, FLJ10099, FLJ13090 Yes No Ensembl:ENSG00000106609, GeneCard:C7orf42, HGNC:HGNC:25476, HumanCyc Gene:HS12639, ModBase:Q9NWD8, NCBI Gene:55069, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_060464, RefSeq RNA:NM_017994, UniProtKB:Q9NWD8 No chr7 66386203 66423538 66921216 66958551 +PA166049108 340393 HGNC:44155 ENSG00000261587 transmembrane protein 249 TMEM249 C8orfK29 Yes No Ensembl:ENSG00000261587, HGNC:HGNC:44155, NCBI Gene:340393 No chr8 145576886 145579269 144353226 144355609 +PA134919013 84866 HGNC:25890 ENSG00000149582 transmembrane protein 25 TMEM25 FLJ14399 Yes No Comparative Toxicogenomics Database:84866, Ensembl:ENSG00000149582, GeneCard:TMEM25, HGNC:HGNC:25890, HumanCyc Gene:HS14294, ModBase:Q86YD3, NCBI Gene:84866, RefSeq DNA:NT_033899, RefSeq Protein:NP_001137506, RefSeq Protein:NP_001137507, RefSeq Protein:NP_001137508, RefSeq Protein:NP_001137509, RefSeq Protein:NP_001137510, RefSeq Protein:NP_116169, RefSeq RNA:NM_001144034, RefSeq RNA:NM_001144035, RefSeq RNA:NM_001144036, RefSeq RNA:NM_001144037, RefSeq RNA:NM_001144038, RefSeq RNA:NM_032780, UniProtKB:Q86YD3, UniProtKB:Q8NBL5 No chr11 118401803 118417313 118531088 118546670 +PA134944430 90120 HGNC:31009 ENSG00000238227 transmembrane protein 250 TMEM250 chromosome 9 open reading frame 69 C9orf69, bA83N9.1 Yes No Ensembl:ENSG00000238227, GeneCard:C9orf69, HGNC:HGNC:31009, NCBI Gene:90120, RefSeq DNA:NT_019501, RefSeq Protein:NP_690046, RefSeq RNA:NM_152833 No chr9 139006427 139010731 136111838 136118885 +PA134989660 169693 HGNC:28537 ENSG00000181778 transmembrane protein 252 TMEM252 C9orf71, MGC34760 Yes No Ensembl:ENSG00000181778, GeneCard:C9orf71, HGNC:HGNC:28537, HumanCyc Gene:HS17726, NCBI Gene:169693, RefSeq DNA:NT_008470, RefSeq Protein:NP_694969, RefSeq RNA:NM_153237, UniProtKB:Q8N6L7 No chr9 71151496 71155783 68536580 68540867 +PA143485392 643382 HGNC:32545 ENSG00000232070 transmembrane protein 253 TMEM253 C14orf176, C14orf95, NCRNA00220 Yes No Ensembl:ENSG00000232070, GeneCard:C14orf176, HGNC:HGNC:32545, ModBase:P0C7T8, NCBI Gene:643382, RefSeq DNA:NT_026437, RefSeq Protein:NP_001140155, RefSeq Protein:XP_002343298, RefSeq Protein:XP_002343299, RefSeq Protein:XP_002344799, RefSeq Protein:XP_002344800, RefSeq Protein:XP_002347461, RefSeq Protein:XP_002347462, RefSeq RNA:NM_001146683, RefSeq RNA:XM_002343257, RefSeq RNA:XM_002343258, RefSeq RNA:XM_002344758, RefSeq RNA:XM_002344759, RefSeq RNA:XM_002347420, RefSeq RNA:XM_002347421, UniProtKB:P0C7T8 No chr14 21567096 21571883 21098937 21103724 +PA134875855 80195 HGNC:25804 ENSG00000133678 transmembrane protein 254 TMEM254 C10orf57, FLJ13263, bA369J21.6 Yes No Ensembl:ENSG00000133678, GeneCard:C10orf57, HGNC:HGNC:25804, HumanCyc Gene:HS13490, NCBI Gene:80195, RefSeq DNA:NT_030059, RefSeq Protein:NP_079401, RefSeq RNA:NM_025125, UniProtKB:Q8TBM7 No chr10 81838402 81852307 80078646 80092552 +PA142671885 55026 HGNC:26086 ENSG00000125355 transmembrane protein 255A TMEM255A FAM70A, FLJ20716 Yes No Ensembl:ENSG00000125355, GeneCard:FAM70A, HGNC:HGNC:26086, HumanCyc Gene:HS13157, ModBase:Q5JRV8, NCBI Gene:55026, RefSeq DNA:NT_011786, RefSeq Protein:NP_001098014, RefSeq Protein:NP_001098015, RefSeq Protein:NP_060408, RefSeq RNA:NM_001104544, RefSeq RNA:NM_001104545, RefSeq RNA:NM_017938, UniProtKB:B1APR4, UniProtKB:B3KPI6, UniProtKB:Q5JRV8, UniProtKB:Q7Z4S8 No chrX 119392505 119445391 120250984 120311556 +PA142671886 348013 HGNC:28297 ENSG00000184497 transmembrane protein 255B TMEM255B FAM70B, MGC20579 Yes No Ensembl:ENSG00000184497, GeneCard:FAM70B, HGNC:HGNC:28297, ModBase:Q8WV15, NCBI Gene:348013, RefSeq DNA:NT_077627, RefSeq Protein:NP_872420, RefSeq Protein:XP_002347442, RefSeq RNA:NM_182614, RefSeq RNA:XM_002347401, UniProtKB:Q8WV15 No chr13 114462191 114515225 113759217 113813797 +PA142672244 254863 HGNC:28618 ENSG00000205544 transmembrane protein 256 TMEM256 C17orf61, MGC40107 Yes No Ensembl:ENSG00000205544, GeneCard:C17orf61, HGNC:HGNC:28618, NCBI Gene:254863, RefSeq DNA:NT_010718, RefSeq Protein:NP_689979, RefSeq RNA:NM_152766, UniProtKB:Q8N2U0 No chr17 7306293 7307450 7402974 7404131 +PA25478 746 HGNC:1164 ENSG00000134825 transmembrane protein 258 TMEM258 C11orf10, Kud, Kuduk Yes Yes Comparative Toxicogenomics Database:746, Ensembl:ENSG00000134825, GenAtlas:C11orf10, GeneCard:C11orf10, HGNC:HGNC:1164, HumanCyc Gene:HS13546, NCBI Gene:746, RefSeq DNA:NT_167190, RefSeq Protein:NP_055021, RefSeq RNA:NM_014206, UCSC Genome Browser:NM_014206, UniProtKB:P61165 No chr11 61556602 61560085 61789130 61792613 +PA134936083 91304 HGNC:17039 ENSG00000182087 transmembrane protein 259 TMEM259 aspecific BCL2 ARE-binding protein 1, membralin ASBABP1, C19orf6, MBRL, MGC4022 Yes No Comparative Toxicogenomics Database:91304, Ensembl:ENSG00000182087, GeneCard:C19orf6, HGNC:HGNC:17039, HumanCyc Gene:HS12857, ModBase:Q4ZIN3, NCBI Gene:91304, OMIM:611011, RefSeq DNA:NT_011255, RefSeq Protein:NP_001028198, RefSeq Protein:NP_219488, RefSeq RNA:NM_001033026, RefSeq RNA:NM_033420, UniProtKB:B3KTL0, UniProtKB:Q4ZIN3 No chr19 1009650 1021173 1009651 1021169 +PA134887276 219623 HGNC:28550 ENSG00000196932 transmembrane protein 26 TMEM26 Em:AC068892.1, MGC35010 Yes No Ensembl:ENSG00000196932, GeneCard:TMEM26, HGNC:HGNC:28550, ModBase:Q6ZUK4, NCBI Gene:219623, RefSeq DNA:NT_030059, RefSeq Protein:NP_848600, RefSeq RNA:NM_178505, UniProtKB:Q6ZUK4 No chr10 63166401 63213208 61406642 61453450 +PA134894829 54916 HGNC:20185 ENSG00000070269 transmembrane protein 260 TMEM260 C14orf101, FLJ20392 Yes No Ensembl:ENSG00000070269, GeneCard:C14orf101, HGNC:HGNC:20185, HumanCyc Gene:HS12207, NCBI Gene:54916, RefSeq DNA:NT_026437, RefSeq Protein:NP_060269, RefSeq RNA:NM_017799, UniProtKB:B3KN73, UniProtKB:Q9NX78 No chr14 57046509 57116233 56579791 56660629 +PA166123748 100130348 HGNC:49389 ENSG00000187066 transmembrane protein 262 TMEM262 Yes No Ensembl:ENSG00000187066, HGNC:HGNC:49389, NCBI Gene:100130348 No +PA142672295 90488 HGNC:28281 ENSG00000151135 transmembrane protein 263 TMEM263 chromosome 12 open reading frame 23 C12orf23, MGC17943 Yes No Ensembl:ENSG00000151135, GeneCard:C12orf23, HGNC:HGNC:28281, HumanCyc Gene:HS14355, NCBI Gene:90488, RefSeq DNA:NT_029419, RefSeq Protein:NP_689474, RefSeq RNA:NM_152261, UniProtKB:Q8WUH6 No chr12 107347298 107367813 106955535 106974037 +PA166181674 100862671 HGNC:51241 ENSG00000281991 transmembrane protein 265 TMEM265 Yes No Ensembl:ENSG00000281991, HGNC:HGNC:51241, NCBI Gene:100862671 No 0 0 0 0 +PA134968419 123591 HGNC:26763 ENSG00000169758 transmembrane protein 266 TMEM266 chromosome 15 open reading frame 27 C15orf27, FLJ38190 Yes No Ensembl:ENSG00000169758, GeneCard:C15orf27, HGNC:HGNC:26763, HumanCyc Gene:HS15811, ModBase:Q2M3C6, NCBI Gene:123591, RefSeq DNA:NT_010194, RefSeq Protein:NP_689548, RefSeq RNA:NM_152335, UniProtKB:Q2M3C6 No chr15 76352299 76497304 76059929 76204963 +PA162380004 64417 HGNC:26139 ENSG00000151881 transmembrane protein 267 TMEM267 chromosome 5 open reading frame 28 C5orf28, FLJ21657 Yes No Ensembl:ENSG00000151881, GeneCard:C5orf28, HGNC:HGNC:26139, HumanCyc Gene:HS14394, ModBase:Q0VDI3, NCBI Gene:64417, RefSeq DNA:NT_006576, RefSeq Protein:NP_071928, RefSeq RNA:NM_022483, UniProtKB:Q0VDI3 No chr5 43444354 43484171 43444252 43484660 +PA134931542 203197 HGNC:24513 ENSG00000157693 transmembrane protein 268 TMEM268 chromosome 9 open reading frame 91 C9orf91, DKFZp547P234, FLJ38045 Yes No Ensembl:ENSG00000157693, GeneCard:C9orf91, HGNC:HGNC:24513, HumanCyc Gene:HS08235, ModBase:Q5VZI3, NCBI Gene:203197, RefSeq DNA:NT_008470, RefSeq Protein:NP_694590, RefSeq RNA:NM_153045, UniProtKB:Q5VZI3 No chr9 117373706 117408703 114603897 114646423 +PA166181675 100129924 HGNC:52381 ENSG00000274386 transmembrane protein 269 TMEM269 Yes No Ensembl:ENSG00000274386, HGNC:HGNC:52381, NCBI Gene:100129924 No 0 0 0 0 +PA145147726 135886 HGNC:23018 ENSG00000175877 transmembrane protein 270 TMEM270 Williams-Beuren syndrome chromosome region 28 MGC26719, WBSCR28 Yes No Comparative Toxicogenomics Database:135886, Ensembl:ENSG00000175877, GeneCard:WBSCR28, HGNC:HGNC:23018, ModBase:Q6UE05, NCBI Gene:135886, OMIM:612547, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_872310, RefSeq RNA:NM_182504, UniProtKB:Q6UE05 No chr7 73275489 73280223 73860848 73865893 +PA166181676 112441426 HGNC:53639 ENSG00000273238 transmembrane protein 271 TMEM271 Yes No Ensembl:ENSG00000273238, HGNC:HGNC:53639, NCBI Gene:112441426 No 0 0 0 0 +PA165505324 283521 HGNC:26737 ENSG00000281106 transmembrane protein 272 TMEM272 long intergenic non-protein coding RNA 282 FLJ37307, LINC00282, NCRNA00282 Yes No Ensembl:ENSG00000281106, GeneCard:NCRNA00282, HGNC:HGNC:26737, NCBI Gene:283521, RefSeq DNA:NT_024524, RefSeq RNA:NR_027047, RefSeq RNA:NR_027048 No chr13 52387483 52419286 51813347 51845150 +PA134962893 170371 HGNC:27274 ENSG00000204161 transmembrane protein 273 TMEM273 chromosome 10 open reading frame 128 C10orf128, Em:AC084727.5 Yes No Ensembl:ENSG00000204161, GeneCard:C10orf128, HGNC:HGNC:27274, NCBI Gene:170371, RefSeq DNA:NT_030059, RefSeq Protein:NP_001010863, RefSeq RNA:NM_001010863, UniProtKB:Q5T292 No chr10 50363890 50396640 49154724 49188580 +PA166181677 105378696 HGNC:53938 ENSG00000282881 transmembrane protein 275 TMEM275 Yes No Ensembl:ENSG00000282881, HGNC:HGNC:53938, NCBI Gene:105378696 No 0 0 0 0 +PA166352231 84773 HGNC:56235 transmembrane protein 276 TMEM276 Yes No HGNC:HGNC:56235, NCBI Gene:84773 No 0 0 0 0 +PA134936902 55754 HGNC:16667 ENSG00000112697 transmembrane protein 30A TMEM30A C6orf67, CDC50A, FLJ10856 Yes No Comparative Toxicogenomics Database:55754, Ensembl:ENSG00000112697, GeneCard:TMEM30A, HGNC:HGNC:16667, HumanCyc Gene:HS03607, ModBase:Q9NV96, NCBI Gene:55754, OMIM:611028, RefSeq DNA:NT_007299, RefSeq Protein:NP_001137430, RefSeq Protein:NP_060717, RefSeq RNA:NM_001143958, RefSeq RNA:NM_018247, UniProtKB:Q9NV96 No chr6 75962638 75994632 75252922 75284916 +PA134993260 161291 HGNC:27254 ENSG00000182107 transmembrane protein 30B TMEM30B CDC50B Yes No Comparative Toxicogenomics Database:161291, Ensembl:ENSG00000182107, GeneCard:TMEM30B, HGNC:HGNC:27254, NCBI Gene:161291, OMIM:611029, RefSeq DNA:NT_026437, RefSeq Protein:NP_001017970, RefSeq RNA:NM_001017970, UniProtKB:Q3MIR4 No chr14 61744088 61748530 61277370 61281812 +PA134926659 203562 HGNC:28601 ENSG00000179363 transmembrane protein 31 TMEM31 MGC39655 Yes No Ensembl:ENSG00000179363, GeneCard:TMEM31, HGNC:HGNC:28601, ModBase:Q5JXX7, NCBI Gene:203562, RefSeq DNA:NT_011651, RefSeq Protein:NP_872347, RefSeq RNA:NM_182541, UniProtKB:Q5JXX7 No chrX 102965837 102968960 103710909 103714032 +PA134963055 55161 HGNC:25541 ENSG00000109133 transmembrane protein 33 TMEM33 FLJ10525, Pom33 Yes No Comparative Toxicogenomics Database:55161, Ensembl:ENSG00000109133, GeneCard:TMEM33, HGNC:HGNC:25541, HumanCyc Gene:HS03205, NCBI Gene:55161, RefSeq DNA:NT_006238, RefSeq Protein:NP_060596, RefSeq RNA:NM_018126, UniProtKB:P57088 No chr4 41937137 41962824 41935120 41960807 +PA134905238 59353 HGNC:25864 ENSG00000126950 transmembrane protein 35A TMEM35A nAChR regulator, nicotinic acetylcholine receptor regulator, transmembrane protein 35 FLJ14084, NACHO, TMEM35, TUF-1 Yes No Comparative Toxicogenomics Database:59353, Ensembl:ENSG00000126950, GeneCard:TMEM35, HGNC:HGNC:25864, HumanCyc Gene:HS13226, ModBase:Q53FP2, NCBI Gene:59353, RefSeq DNA:NT_011651, RefSeq Protein:NP_067650, RefSeq RNA:NM_021637, UniProtKB:Q53FP2 No chrX 100333836 100351356 101078847 101096367 +PA166049044 100506144 HGNC:40021 ENSG00000243749 transmembrane protein 35B TMEM35B ZMYM6 neighbor ZMYM6NB Yes No Ensembl:ENSG00000243749, HGNC:HGNC:40021, NCBI Gene:100506144 No chr1 35447127 35450948 34981526 34985347 +PA134897608 140738 HGNC:18216 ENSG00000171227 transmembrane protein 37 TMEM37 PR, PR1 Yes No Comparative Toxicogenomics Database:140738, Ensembl:ENSG00000171227, GeneCard:TMEM37, HGNC:HGNC:18216, NCBI Gene:140738, RefSeq DNA:NT_022135, RefSeq Protein:NP_899063, RefSeq RNA:NM_183240, UniProtKB:Q8WXS4 No chr2 120187501 120196096 119429912 119438520 +PA134891982 79041 HGNC:28462 ENSG00000072954 transmembrane protein 38A TMEM38A MGC3169, TRIC-A Yes No Ensembl:ENSG00000072954, GeneCard:TMEM38A, HGNC:HGNC:28462, HumanCyc Gene:HS12221, ModBase:Q9H6F2, NCBI Gene:79041, OMIM:611235, RefSeq DNA:NT_011295, RefSeq Protein:NP_076979, RefSeq RNA:NM_024074, UniProtKB:Q9H6F2 No chr19 16771938 16799830 16661127 16689020 +PA134916126 55151 HGNC:25535 ENSG00000095209 transmembrane protein 38B TMEM38B C9orf87, D4Ertd89e, FLJ10493, TRIC-B, bA219P18.1 Yes No Comparative Toxicogenomics Database:55151, Ensembl:ENSG00000095209, GeneCard:TMEM38B, HGNC:HGNC:25535, HumanCyc Gene:HS12353, ModBase:Q9NVV0, NCBI Gene:55151, OMIM:611236, RefSeq DNA:NT_008470, RefSeq Protein:NP_060582, RefSeq RNA:NM_018112, UniProtKB:Q9NVV0 No chr9 108456806 108538892 105694525 105776611 +PA134956032 55254 HGNC:25600 ENSG00000176142 transmembrane protein 39A TMEM39A suppressor of SQST-1 aggregates in rpl-43 mutants FLJ10902, SUSR2 Yes No Ensembl:ENSG00000176142, GeneCard:TMEM39A, HGNC:HGNC:25600, HumanCyc Gene:HS16597, ModBase:Q9NV64, NCBI Gene:55254, RefSeq DNA:NT_005612, RefSeq Protein:NP_060736, RefSeq RNA:NM_018266, UniProtKB:Q9NV64 No chr3 119147807 119182529 119428960 119463682 +PA134933688 55116 HGNC:25510 ENSG00000121775 transmembrane protein 39B TMEM39B FLJ10315 Yes No Ensembl:ENSG00000121775, GeneCard:TMEM39B, HGNC:HGNC:25510, HumanCyc Gene:HS13026, NCBI Gene:55116, RefSeq DNA:NT_032977, RefSeq Protein:NP_060526, RefSeq RNA:NM_018056, UniProtKB:Q9BT39, UniProtKB:Q9GZU3 No chr1 32538503 32568467 32072031 32102866 +PA134940002 55287 HGNC:25620 ENSG00000088726 transmembrane protein 40 TMEM40 FLJ11036 Yes No Comparative Toxicogenomics Database:55287, Ensembl:ENSG00000088726, GeneCard:TMEM40, HGNC:HGNC:25620, HumanCyc Gene:HS12310, ModBase:Q8WWA1, NCBI Gene:55287, RefSeq DNA:NT_022517, RefSeq Protein:NP_060776, RefSeq RNA:NM_018306, UniProtKB:Q8WWA1 No chr3 12775392 12801038 12733530 12769457 +PA134873545 90407 HGNC:30544 ENSG00000163900 transmembrane protein 41A TMEM41A MGC15397 Yes No Comparative Toxicogenomics Database:90407, Ensembl:ENSG00000163900, GeneCard:TMEM41A, HGNC:HGNC:30544, HumanCyc Gene:HS15122, ModBase:Q96HV5, NCBI Gene:90407, RefSeq DNA:NT_005612, RefSeq Protein:NP_542383, RefSeq RNA:NM_080652, UniProtKB:Q96HV5 No chr3 185207389 185216845 185482671 185499057 +PA134898265 440026 HGNC:28948 ENSG00000166471 transmembrane protein 41B TMEM41B stasimon KIAA0033 Yes No Comparative Toxicogenomics Database:440026, Ensembl:ENSG00000166471, GeneCard:TMEM41B, HGNC:HGNC:28948, ModBase:Q5BJD5, NCBI Gene:440026, RefSeq DNA:NT_009237, RefSeq Protein:NP_001158502, RefSeq Protein:NP_055827, RefSeq RNA:NM_001165030, RefSeq RNA:NM_015012, RefSeq RNA:NR_028491, UniProtKB:Q5BJD5 No chr11 9302201 9336315 9280654 9314768 +PA134914008 131616 HGNC:28444 ENSG00000169964 transmembrane protein 42 TMEM42 MGC29956 Yes No Ensembl:ENSG00000169964, GeneCard:TMEM42, HGNC:HGNC:28444, HumanCyc Gene:HS15831, ModBase:Q69YG0, NCBI Gene:131616, RefSeq DNA:NT_022517, RefSeq Protein:NP_653239, RefSeq RNA:NM_144638, UniProtKB:Q69YG0 No chr3 44903408 44907156 44861909 44865667 +PA134871907 79188 HGNC:28472 ENSG00000170876 transmembrane protein 43 TMEM43 ARVD5, DKFZp586G1919, LUMA, MGC3222 Yes No Comparative Toxicogenomics Database:79188, Ensembl:ENSG00000170876, GeneCard:TMEM43, HGNC:HGNC:28472, HumanCyc Gene:HS15929, ModBase:Q9BTV4, NCBI Gene:79188, OMIM:604400, OMIM:612048, RefSeq DNA:NG_008975, RefSeq DNA:NT_022517, RefSeq Protein:NP_077310, RefSeq RNA:NM_024334, UniProtKB:Q9BTV4 No chr3 14166440 14185180 14124940 14143680 +PA134916107 93109 HGNC:25120 ENSG00000145014 transmembrane protein 44 TMEM44 DKFZp686O18124 Yes No Ensembl:ENSG00000145014, GeneCard:TMEM44, HGNC:HGNC:25120, HumanCyc Gene:HS14066, NCBI Gene:93109, RefSeq DNA:NT_029928, RefSeq Protein:NP_001011655, RefSeq Protein:NP_001159777, RefSeq Protein:NP_001159778, RefSeq Protein:NP_612408, RefSeq RNA:NM_001011655, RefSeq RNA:NM_001166305, RefSeq RNA:NM_001166306, RefSeq RNA:NM_138399, UniProtKB:B7ZLZ5, UniProtKB:C9JJ62, UniProtKB:Q2T9K0 No chr3 194308402 194354150 194587673 194633819 +PA134868262 55076 HGNC:25480 ENSG00000181458 transmembrane protein 45A TMEM45A DERP7, FLJ10134 Yes No Comparative Toxicogenomics Database:55076, Ensembl:ENSG00000181458, GeneCard:TMEM45A, HGNC:HGNC:25480, HumanCyc Gene:HS17678, ModBase:Q9NWC5, NCBI Gene:55076, RefSeq DNA:NT_005612, RefSeq Protein:NP_060474, RefSeq RNA:NM_018004, UniProtKB:Q9NWC5 No chr3 100211463 100296297 100492619 100577453 +PA134909603 120224 HGNC:25194 ENSG00000151715 transmembrane protein 45B TMEM45B BC016153, FLJ40787 Yes No Ensembl:ENSG00000151715, GeneCard:TMEM45B, HGNC:HGNC:25194, HumanCyc Gene:HS14383, ModBase:Q96B21, NCBI Gene:120224, RefSeq DNA:NT_033899, RefSeq Protein:NP_620143, RefSeq RNA:NM_138788, UniProtKB:Q96B21 No chr11 129685732 129729898 129815781 129860003 +PA134971248 83604 HGNC:18515 ENSG00000147027 transmembrane protein 47 TMEM47 BCMP1, DKFZP761J17121, DKFZp564E153, TM4SF10, VAB-9 Yes No Comparative Toxicogenomics Database:83604, Ensembl:ENSG00000147027, GeneCard:TMEM47, HGNC:HGNC:18515, HumanCyc Gene:HS14190, ModBase:Q9BQJ4, NCBI Gene:83604, OMIM:300698, RefSeq DNA:NT_167197, RefSeq Protein:NP_113630, RefSeq RNA:NM_031442, UniProtKB:Q9BQJ4 No chrX 34645181 34675405 34627064 34657288 +PA142670766 23585 HGNC:30590 ENSG00000183726 transmembrane protein 50A TMEM50A small membrane protein 1 SMP1 Yes No Ensembl:ENSG00000183726, GeneCard:TMEM50A, HGNC:HGNC:30590, ModBase:O95807, NCBI Gene:23585, OMIM:605348, RefSeq DNA:NG_003255, RefSeq DNA:NT_004610, RefSeq Protein:NP_055128, RefSeq RNA:NM_014313, UniProtKB:O95807, UniProtKB:Q7RU07 No chr1 25664789 25688852 25338298 25362361 +PA25835 757 HGNC:1280 ENSG00000142188 transmembrane protein 50B TMEM50B C21orf4 Yes No Ensembl:ENSG00000142188, GenAtlas:TMEM50B, GeneCard:TMEM50B, HGNC:HGNC:1280, HumanCyc Gene:HS06905, NCBI Gene:757, RefSeq DNA:NT_011512, RefSeq Protein:NP_006125, RefSeq RNA:NM_006134, RefSeq RNA:NR_040016, UCSC Genome Browser:NM_006134, UniProtKB:P56557 No chr21 34804793 34852316 33432486 33480009 +PA142670767 55092 HGNC:25488 ENSG00000171729 transmembrane protein 51 TMEM51 C1orf72, FLJ10199 Yes No Comparative Toxicogenomics Database:55092, Ensembl:ENSG00000171729, GeneCard:TMEM51, HGNC:HGNC:25488, HumanCyc Gene:HS16015, ModBase:Q9NW97, NCBI Gene:55092, RefSeq DNA:NT_004610, RefSeq Protein:NP_001129688, RefSeq Protein:NP_001129689, RefSeq Protein:NP_001129690, RefSeq Protein:NP_060492, RefSeq RNA:NM_001136216, RefSeq RNA:NM_001136217, RefSeq RNA:NM_001136218, RefSeq RNA:NM_018022, UniProtKB:Q9NW97 No chr1 15479028 15546974 15152418 15220480 +PA142672444 200197 HGNC:26301 ENSG00000175147 TMEM51 antisense RNA 1 TMEM51-AS1 FLJ23703 Yes No Ensembl:ENSG00000175147, GeneCard:C1orf126, HGNC:HGNC:26301, NCBI Gene:200197, RefSeq DNA:NT_004610, RefSeq RNA:NR_027136 No chr1 15438311 15478960 15111815 15152464 +PA142670768 339456 HGNC:27916 ENSG00000178821 transmembrane protein 52 TMEM52 Yes No Comparative Toxicogenomics Database:339456, Ensembl:ENSG00000178821, GeneCard:TMEM52, HGNC:HGNC:27916, ModBase:Q8NDY8, NCBI Gene:339456, RefSeq DNA:NT_004350, RefSeq Protein:NP_848640, RefSeq RNA:NM_178545, UniProtKB:Q8NDY8 No chr1 1849029 1850740 1917590 1919301 +PA143485388 120939 HGNC:26438 ENSG00000165685 transmembrane protein 52B TMEM52B C12orf59, FLJ31166 Yes No Ensembl:ENSG00000165685, GeneCard:C12orf59, HGNC:HGNC:26438, HumanCyc Gene:HS15353, NCBI Gene:120939, RefSeq DNA:NT_009714, RefSeq Protein:NP_694567, RefSeq RNA:NM_153022, UniProtKB:Q4KMG9 No chr12 10331557 10344403 10170599 10191804 +PA142670769 79639 HGNC:26186 ENSG00000126106 transmembrane protein 53 TMEM53 nuclear envelope transmembrane protein 4 FLJ22353, NET4 Yes No Comparative Toxicogenomics Database:79639, Ensembl:ENSG00000126106, GeneCard:TMEM53, HGNC:HGNC:26186, HumanCyc Gene:HS13198, ModBase:Q6P2H8, NCBI Gene:79639, RefSeq DNA:NT_032977, RefSeq Protein:NP_078863, RefSeq RNA:NM_024587, UniProtKB:Q6P2H8 No chr1 45118920 45140253 44653247 44674608 +PA142670770 113452 HGNC:24143 ENSG00000121900 transmembrane protein 54 TMEM54 beta-casein-like protein, cervical adenocarcinoma cell line 1 cDNA BCLP, CAC-1 Yes No Ensembl:ENSG00000121900, GeneCard:TMEM54, HGNC:HGNC:24143, HumanCyc Gene:HS04530, ModBase:Q969K7, NCBI Gene:113452, RefSeq DNA:NT_032977, RefSeq Protein:NP_277039, RefSeq RNA:NM_033504, UniProtKB:Q969K7 No chr1 33360196 33367041 32894595 32901435 +PA25620 9528 HGNC:1239 ENSG00000116209 transmembrane protein 59 TMEM59 C1orf8, HSPC001 Yes No Ensembl:ENSG00000116209, GenAtlas:TMEM59, GeneCard:TMEM59, HGNC:HGNC:1239, HumanCyc Gene:HS03996, ModBase:Q9BXS4, NCBI Gene:9528, RefSeq DNA:NT_032977, RefSeq Protein:NP_004863, RefSeq RNA:NM_004872, UCSC Genome Browser:NM_004872, UniProtKB:Q9BXS4 No chr1 54497346 54519135 54026681 54053573 +PA162406615 25789 HGNC:13237 ENSG00000105696 transmembrane protein 59 like TMEM59L transmembrane protein 59-like BSMAP, C19orf4 Yes No Ensembl:ENSG00000105696, GeneCard:TMEM59L, HGNC:HGNC:13237, HumanCyc Gene:HS02795, ModBase:Q9UK28, NCBI Gene:25789, RefSeq DNA:NT_011295, RefSeq Protein:NP_036241, RefSeq RNA:NM_012109, UniProtKB:Q9UK28 No chr19 18723682 18731849 18612872 18621039 +PA134910139 85025 HGNC:21754 ENSG00000135211 transmembrane protein 60 TMEM60 C7orf35, DC32 Yes No Ensembl:ENSG00000135211, GeneCard:TMEM60, HGNC:HGNC:21754, HumanCyc Gene:HS13564, NCBI Gene:85025, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_116325, RefSeq RNA:NM_032936, UniProtKB:Q9H2L4 No chr7 77423045 77427747 77793728 77798430 +PA142670774 199964 HGNC:27296 ENSG00000143001 transmembrane protein 61 TMEM61 Yes No Ensembl:ENSG00000143001, GeneCard:TMEM61, HGNC:HGNC:27296, NCBI Gene:199964, RefSeq DNA:NT_032977, RefSeq Protein:NP_872338, RefSeq RNA:NM_182532, UniProtKB:Q8N0U2 No chr1 55446271 55457966 54980614 54992293 +PA142670775 80021 HGNC:26269 ENSG00000137842 transmembrane protein 62 TMEM62 FLJ23375 Yes No Comparative Toxicogenomics Database:80021, Ensembl:ENSG00000137842, GeneCard:TMEM62, HGNC:HGNC:26269, HumanCyc Gene:HS13700, ModBase:Q0P6H9, NCBI Gene:80021, RefSeq DNA:NT_010194, RefSeq Protein:NP_079232, RefSeq RNA:NM_024956, UniProtKB:Q0P6H9 No chr15 43425722 43477342 43133115 43185147 +PA142670776 9725 HGNC:29118 ENSG00000196187 transmembrane protein 63A TMEM63A KIAA0792 Yes No Ensembl:ENSG00000196187, GeneCard:TMEM63A, HGNC:HGNC:29118, NCBI Gene:9725, RefSeq DNA:NT_167186, RefSeq Protein:NP_055513, RefSeq RNA:NM_014698, UniProtKB:O94886 No chr1 226033233 226070420 225840556 225882720 +PA134911221 55362 HGNC:17735 ENSG00000137216 transmembrane protein 63B TMEM63B C6orf110, DKFZp434P0531, dJ421H19.2 Yes No Ensembl:ENSG00000137216, GeneCard:TMEM63B, HGNC:HGNC:17735, ModBase:Q5T3F8, NCBI Gene:55362, RefSeq DNA:NT_007592, RefSeq Protein:NP_060896, RefSeq RNA:NM_018426, UniProtKB:Q5T3F8 No chr6 44094599 44123256 44126628 44155519 +PA134993950 57156 HGNC:23787 ENSG00000165548 transmembrane protein 63C TMEM63C calcium permeable stress-gated cation channel 1 homolog (Arabidopsis) C14orf171, CSC1, DKFZp434P0111, hsCSC1 Yes No Comparative Toxicogenomics Database:57156, Ensembl:ENSG00000165548, GeneCard:TMEM63C, HGNC:HGNC:23787, NCBI Gene:57156, RefSeq DNA:NT_026437, RefSeq Protein:NP_065164, RefSeq RNA:NM_020431, UniProtKB:B2RN22, UniProtKB:Q9P1W3 No chr14 77648102 77725838 77181759 77259495 +PA142670777 169200 HGNC:25441 ENSG00000180694 transmembrane protein 64 TMEM64 DKFZp762C1112 Yes No Comparative Toxicogenomics Database:169200, Ensembl:ENSG00000180694, GeneCard:TMEM64, HGNC:HGNC:25441, NCBI Gene:169200, RefSeq DNA:NT_008046, RefSeq Protein:NP_001008495, RefSeq Protein:NP_001139745, RefSeq RNA:NM_001008495, RefSeq RNA:NM_001146273, UniProtKB:B4DUC0, UniProtKB:Q6YI46 No chr8 91634223 91658133 90621995 90645905 +PA142670778 157378 HGNC:25203 ENSG00000164983 transmembrane protein 65 TMEM65 Yes No Ensembl:ENSG00000164983, GeneCard:TMEM65, HGNC:HGNC:25203, NCBI Gene:157378, RefSeq DNA:NT_008046, RefSeq Protein:NP_919267, RefSeq RNA:NM_194291, UniProtKB:Q6PI78 No chr8 125323159 125384940 124306189 124372699 +PA142670780 91147 HGNC:28396 ENSG00000164953 transmembrane protein 67 TMEM67 Meckelin JBTS6, MGC26979, MKS3, NPHP11 Yes No Comparative Toxicogenomics Database:91147, Ensembl:ENSG00000164953, GeneCard:TMEM67, HGNC:HGNC:28396, HumanCyc Gene:HS15262, ModBase:Q5HYA8, NCBI Gene:91147, OMIM:209900, OMIM:216360, OMIM:607361, OMIM:609884, OMIM:610688, RefSeq DNA:NG_009190, RefSeq DNA:NT_008046, RefSeq Protein:NP_001135773, RefSeq Protein:NP_714915, RefSeq RNA:NM_001142301, RefSeq RNA:NM_153704, RefSeq RNA:NR_024522, UniProtKB:B3KRU5, UniProtKB:Q5HYA8 No chr8 94767072 94831462 93754844 93832653 +PA142670781 137695 HGNC:26510 ENSG00000167904 transmembrane protein 68 TMEM68 DGAT1/2-independent enzyme synthesizing storage lipids DIESL, FLJ32370 Yes No Comparative Toxicogenomics Database:137695, Ensembl:ENSG00000167904, GeneCard:TMEM68, HGNC:HGNC:26510, HumanCyc Gene:HS09658, NCBI Gene:137695, RefSeq DNA:NT_008183, RefSeq Protein:NP_689630, RefSeq RNA:NM_152417, UniProtKB:Q96MH6 No chr8 56651317 56685955 55738744 55773407 +PA142670782 51249 HGNC:28035 ENSG00000159596 transmembrane protein 69 TMEM69 C1orf154, FLJ21029 Yes No Ensembl:ENSG00000159596, GeneCard:TMEM69, HGNC:HGNC:28035, HumanCyc Gene:HS14766, ModBase:Q5SWH9, NCBI Gene:51249, RefSeq DNA:NT_032977, RefSeq Protein:NP_057570, RefSeq RNA:NM_016486, UniProtKB:Q5SWH9 No chr1 46153847 46160110 45688175 45694436 +PA142670783 54968 HGNC:26050 ENSG00000175606 transmembrane protein 70 TMEM70 FLJ20533 Yes No Comparative Toxicogenomics Database:54968, Ensembl:ENSG00000175606, GeneCard:TMEM70, HGNC:HGNC:26050, HumanCyc Gene:HS16480, ModBase:Q9BUB7, NCBI Gene:54968, OMIM:604273, OMIM:612418, RefSeq DNA:NG_016618, RefSeq DNA:NT_008183, RefSeq Protein:NP_001035703, RefSeq Protein:NP_060336, RefSeq RNA:NM_001040613, RefSeq RNA:NM_017866, RefSeq RNA:NR_033334, UniProtKB:D4PHA6, UniProtKB:Q9BUB7 No chr8 74888377 74895018 73976142 73982783 +PA142670784 137835 HGNC:26572 ENSG00000165071 transmembrane protein 71 TMEM71 FLJ33069 Yes No Comparative Toxicogenomics Database:137835, Ensembl:ENSG00000165071, GeneCard:TMEM71, HGNC:HGNC:26572, HumanCyc Gene:HS15279, NCBI Gene:137835, RefSeq DNA:NT_008046, RefSeq Protein:NP_001138625, RefSeq Protein:NP_653250, RefSeq RNA:NM_001145153, RefSeq RNA:NM_144649, UniProtKB:Q6P5X7 No chr8 133722191 133772914 132709945 132760668 +PA164726549 643236 HGNC:31658 ENSG00000187783 transmembrane protein 72 TMEM72 C10orf127, KSP37, bA285G1.3 Yes No Ensembl:ENSG00000187783, GeneCard:TMEM72, HGNC:HGNC:31658, NCBI Gene:643236, RefSeq DNA:NT_033985, RefSeq Protein:NP_001116848, RefSeq RNA:NM_001123376, UniProtKB:A0PK05 No chr10 45406764 45430642 44911307 44937010 +PA142670785 157753 HGNC:26409 ENSG00000164841 transmembrane protein 74 TMEM74 FLJ30668, NET36 Yes No Ensembl:ENSG00000164841, GeneCard:TMEM74, HGNC:HGNC:26409, HumanCyc Gene:HS15245, ModBase:Q96NL1, NCBI Gene:157753, RefSeq DNA:NT_008046, RefSeq Protein:NP_694560, RefSeq RNA:NM_153015, UniProtKB:Q96NL1 No chr8 109791165 109799770 108606850 108787615 +PA25759 55321 HGNC:15893 ENSG00000125895 transmembrane protein 74B TMEM74B C20orf46, FLJ11190 Yes No Ensembl:ENSG00000125895, GenAtlas:C20orf46, GeneCard:C20orf46, HGNC:HGNC:15893, HumanCyc Gene:HS04968, ModBase:Q9NUR3, NCBI Gene:55321, RefSeq DNA:NT_011387, RefSeq Protein:NP_060824, RefSeq RNA:NM_018354, UCSC Genome Browser:NM_018354, UniProtKB:Q9NUR3 No chr20 1161213 1166077 1180561 1188138 +PA142670786 641384 HGNC:32295 transmembrane protein 75 TMEM75 FLJ36105 Yes No GeneCard:TMEM75, HGNC:HGNC:32295, NCBI Gene:641384, RefSeq DNA:NT_008046, RefSeq RNA:XR_040740, RefSeq RNA:XR_040741, RefSeq RNA:XR_040742, RefSeq RNA:XR_108887 No chr8 128958805 128960969 127946559 127948723 +PA142670733 677790 HGNC:32307 ENSG00000177800 transmembrane protein 78 TMEM78 FLJ40168 Yes No Ensembl:ENSG00000177800, GeneCard:TMEM78, HGNC:HGNC:32307, NCBI Gene:677790, RefSeq DNA:NT_004559, RefSeq Protein:NP_001035168, RefSeq RNA:NM_001040079 No chr1 +PA143485632 84283 HGNC:28196 ENSG00000163472 transmembrane protein 79 TMEM79 mattrin FLJ16057, FLJ32254, MATT, MGC13102 Yes No Comparative Toxicogenomics Database:84283, Ensembl:ENSG00000163472, GeneCard:TMEM79, HGNC:HGNC:28196, HumanCyc Gene:HS15067, ModBase:Q9BSE2, NCBI Gene:84283, RefSeq DNA:NT_004487, RefSeq Protein:NP_115699, RefSeq RNA:NM_032323, RefSeq RNA:NR_026678, UniProtKB:Q9BSE2 No chr1 156252704 156262234 156282913 156292443 +PA142670734 283232 HGNC:27453 ENSG00000177042 transmembrane protein 80 TMEM80 FLJ38216 Yes No Ensembl:ENSG00000177042, GeneCard:TMEM80, HGNC:HGNC:27453, NCBI Gene:283232, RefSeq DNA:NT_009237, RefSeq Protein:NP_001035928, RefSeq Protein:NP_777600, RefSeq RNA:NM_001042463, RefSeq RNA:NM_174940, UniProtKB:Q96HE8 No chr11 695591 705028 695386 705028 +PA143485633 388730 HGNC:32349 ENSG00000174529 transmembrane protein 81 TMEM81 HC3107, KVLA2788, MGC75217, UNQ2788 Yes No Ensembl:ENSG00000174529, GeneCard:TMEM81, HGNC:HGNC:32349, NCBI Gene:388730, RefSeq DNA:NT_004487, RefSeq Protein:NP_976310, RefSeq RNA:NM_203376, UniProtKB:Q6P7N7 No chr1 205052257 205053588 205083129 205084460 +PA162406636 388595 HGNC:32350 ENSG00000162460 transmembrane protein 82 TMEM82 Yes No Ensembl:ENSG00000162460, GeneCard:TMEM82, HGNC:HGNC:32350, ModBase:A0PJX8, NCBI Gene:388595, RefSeq DNA:NT_004610, RefSeq Protein:NP_001013663, RefSeq RNA:NM_001013641, UniProtKB:A0PJX8 No chr1 16068987 16074292 15742492 15747797 +PA142670737 144110 HGNC:26890 ENSG00000151117 transmembrane protein 86A TMEM86A FLJ90119 Yes No Comparative Toxicogenomics Database:144110, Ensembl:ENSG00000151117, GeneCard:TMEM86A, HGNC:HGNC:26890, HumanCyc Gene:HS14353, ModBase:Q8N2M4, NCBI Gene:144110, RefSeq DNA:NT_009237, RefSeq Protein:NP_699178, RefSeq RNA:NM_153347, UniProtKB:Q8N2M4 No chr11 18720351 18726332 18698735 18704785 +PA142670738 255043 HGNC:28448 ENSG00000180089 transmembrane protein 86B TMEM86B alkenylglycerophosphocholine hydrolase, alkenylglycerophosphoethanolamine hydrolase MGC30208 Yes No Ensembl:ENSG00000180089, GeneCard:TMEM86B, HGNC:HGNC:28448, HumanCyc Gene:HS17432, ModBase:Q8N661, NCBI Gene:255043, RefSeq DNA:NT_011109, RefSeq Protein:NP_776165, RefSeq RNA:NM_173804, UniProtKB:Q8N661 No chr19 55738002 55740632 55226634 55229264 +PA142670739 25963 HGNC:24522 ENSG00000103978 transmembrane protein 87A TMEM87A DKFZP564G2022, ELKIN1 Yes No Ensembl:ENSG00000103978, GeneCard:TMEM87A, HGNC:HGNC:24522, HumanCyc Gene:HS12536, ModBase:Q8NBN3, NCBI Gene:25963, RefSeq DNA:NT_010194, RefSeq Protein:NP_001103973, RefSeq Protein:NP_056312, RefSeq RNA:NM_001110503, RefSeq RNA:NM_015497, UniProtKB:Q8NBN3 No chr15 42502726 42565797 42210452 42273584 +PA142670740 84910 HGNC:25913 ENSG00000153214 transmembrane protein 87B TMEM87B FLJ14681 Yes No Ensembl:ENSG00000153214, GeneCard:TMEM87B, HGNC:HGNC:25913, HumanCyc Gene:HS14461, ModBase:Q96K49, NCBI Gene:84910, RefSeq DNA:NT_022135, RefSeq Protein:NP_116213, RefSeq RNA:NM_032824, UniProtKB:Q96K49 No chr2 112812800 112876895 112055223 112119318 +PA142670741 92162 HGNC:32371 ENSG00000167874 transmembrane protein 88 TMEM88 FLJ20025, MGC71744 Yes No Comparative Toxicogenomics Database:92162, Ensembl:ENSG00000167874, GeneCard:TMEM88, HGNC:HGNC:32371, ModBase:Q6PEY1, NCBI Gene:92162, RefSeq DNA:NT_010718, RefSeq Protein:NP_981956, RefSeq RNA:NM_203411, UniProtKB:Q6PEY1 No chr17 7758181 7759417 7854886 7856099 +PA165752745 643965 HGNC:37099 ENSG00000205116 transmembrane protein 88B TMEM88B Yes No Ensembl:ENSG00000205116, GeneCard:TMEM88B, HGNC:HGNC:37099, NCBI Gene:643965, RefSeq DNA:NT_004350, RefSeq Protein:NP_001140157, RefSeq Protein:XP_002342061, RefSeq Protein:XP_002346407, RefSeq RNA:NM_001146685, RefSeq RNA:XM_002342020, RefSeq RNA:XM_002346366, UniProtKB:A6NKF7 No chr1 1361508 1363167 1426128 1427787 +PA142670742 440955 HGNC:32372 ENSG00000183396 transmembrane protein 89 TMEM89 Yes No Ensembl:ENSG00000183396, GeneCard:TMEM89, HGNC:HGNC:32372, NCBI Gene:440955, RefSeq DNA:NT_022517, RefSeq Protein:NP_001008270, RefSeq RNA:NM_001008269, UniProtKB:A2RUT3 No chr3 48658275 48659189 48620842 48621756 +PA165586305 51754 HGNC:21427 ENSG00000137103 transmembrane protein 8B TMEM8B nasopharyngeal carcinoma expressed 6 C9orf127, FP588, LINC00950, NAG-5, NGX6, NGX6a Yes No Ensembl:ENSG00000137103, GeneCard:TMEM8B, HGNC:HGNC:21427, HumanCyc Gene:HS13660, ModBase:A6NDV4, NCBI Gene:51754, RefSeq DNA:NT_008413, RefSeq Protein:NP_001036054, RefSeq Protein:NP_001036055, RefSeq Protein:NP_057530, RefSeq RNA:NM_001042589, RefSeq RNA:NM_001042590, RefSeq RNA:NM_016446, UniProtKB:A6NDV4 No chr9 35829222 35854844 35825817 35865515 +PA38696 252839 HGNC:18823 ENSG00000116857 transmembrane protein 9 TMEM9 TMEM9A Yes No Comparative Toxicogenomics Database:252839, Ensembl:ENSG00000116857, GenAtlas:TMEM9, GeneCard:TMEM9, HGNC:HGNC:18823, HumanCyc Gene:HS04063, ModBase:Q9P0T7, NCBI Gene:252839, RefSeq DNA:NT_004487, RefSeq Protein:NP_057540, RefSeq RNA:NM_016456, UCSC Genome Browser:NM_016456, UniProtKB:Q9P0T7 No chr1 201103900 201140710 201134771 201171625 +PA142670743 641649 HGNC:32393 ENSG00000142046 transmembrane protein 91 TMEM91 dispanin subfamily C member 3, interferon induced transmembrane protein domain containing 6 DSPC3, FLJ27310, IFITMD6, SynDIG3 Yes No Ensembl:ENSG00000142046, GeneCard:TMEM91, HGNC:HGNC:32393, ModBase:Q6ZNR0, NCBI Gene:641649, RefSeq DNA:NT_011109, RefSeq Protein:NP_001036060, RefSeq Protein:NP_001092291, RefSeq Protein:NP_001092292, RefSeq Protein:NP_001092293, RefSeq Protein:NP_001092294, RefSeq Protein:NP_001092295, RefSeq RNA:NM_001042595, RefSeq RNA:NM_001098821, RefSeq RNA:NM_001098822, RefSeq RNA:NM_001098823, RefSeq RNA:NM_001098824, RefSeq RNA:NM_001098825, UniProtKB:C9J9D1, UniProtKB:C9JZ62, UniProtKB:C9K046, UniProtKB:Q6P434, UniProtKB:Q6ZNR0 No chr19 41856873 41889988 41363966 41384083 +PA142670744 162461 HGNC:26579 ENSG00000167105 transmembrane protein 92 TMEM92 FLJ33318 Yes No Ensembl:ENSG00000167105, GeneCard:TMEM92, HGNC:HGNC:26579, HumanCyc Gene:HS15521, NCBI Gene:162461, RefSeq DNA:NT_010783, RefSeq Protein:NP_001161687, RefSeq Protein:NP_694961, RefSeq RNA:NM_001168215, RefSeq RNA:NM_153229, UniProtKB:Q6UXU6 No chr17 48348767 48358846 50271406 50281485 +PA142671623 9772 HGNC:28983 ENSG00000177728 transmembrane protein 94 TMEM94 ER Mg2+ ATPase ERMA, KIAA0195, TMEM94 Yes No Ensembl:ENSG00000177728, GeneCard:KIAA0195, HGNC:HGNC:28983, HumanCyc Gene:HS11209, ModBase:Q12767, NCBI Gene:9772, RefSeq DNA:NT_010783, RefSeq Protein:NP_055553, RefSeq RNA:NM_014738, UniProtKB:Q12767 No chr17 73452664 73496533 75441159 75500452 +PA142670746 339168 HGNC:27898 ENSG00000182896 transmembrane protein 95 TMEM95 MGC129793, UNQ9390 Yes No Ensembl:ENSG00000182896, GeneCard:TMEM95, HGNC:HGNC:27898, NCBI Gene:339168, RefSeq DNA:NT_010718, RefSeq Protein:NP_937797, RefSeq RNA:NM_198154, UniProtKB:Q3KNT9 No chr17 7258497 7260538 7354968 7357219 +PA143485635 27346 HGNC:28106 ENSG00000109084 transmembrane protein 97 TMEM97 sigma2 receptor MAC30, σ2R Yes No Comparative Toxicogenomics Database:27346, Ensembl:ENSG00000109084, GeneCard:TMEM97, HGNC:HGNC:28106, ModBase:Q5BJF2, NCBI Gene:27346, OMIM:612912, RefSeq DNA:NT_010799, RefSeq Protein:NP_055388, RefSeq RNA:NM_014573, UniProtKB:Q5BJF2 No chr17 26646121 26655711 28319041 28328685 +PA142670747 26022 HGNC:24529 ENSG00000006042 transmembrane protein 98 TMEM98 DKFZP564K1964 Yes No Comparative Toxicogenomics Database:26022, Ensembl:ENSG00000006042, GeneCard:TMEM98, HGNC:HGNC:24529, HumanCyc Gene:HS12009, ModBase:Q9Y2Y6, NCBI Gene:26022, RefSeq DNA:NT_010799, RefSeq Protein:NP_001028676, RefSeq Protein:NP_056359, RefSeq RNA:NM_001033504, RefSeq RNA:NM_015544, UniProtKB:Q9Y2Y6 No chr17 31254928 31268667 32927910 32941649 +PA25482 56674 HGNC:1168 ENSG00000175348 TMEM9 domain family member B TMEM9B TMEM9 domain family, member B C11orf15 Yes No Ensembl:ENSG00000175348, GenAtlas:TMEM9B, GeneCard:TMEM9B, HGNC:HGNC:1168, HumanCyc Gene:HS10917, ModBase:Q9NQ34, NCBI Gene:56674, RefSeq DNA:NT_009237, RefSeq Protein:NP_065695, RefSeq RNA:NM_020644, UCSC Genome Browser:NM_020644, UniProtKB:Q543A1, UniProtKB:Q9NQ34 No chr11 8968840 8986553 8947201 8965011 +PA134969638 493900 HGNC:19230 ENSG00000254860 TMEM9B antisense RNA 1 TMEM9B-AS1 Yes No Ensembl:ENSG00000254860, GeneCard:TMEM9B-AS1, HGNC:HGNC:19230, NCBI Gene:493900 No chr11 8986222 8997830 8964675 8976283 +PA36571 7110 HGNC:11870 ENSG00000144747 TATA element modulatory factor 1 TMF1 ARA160, TMF Yes No Comparative Toxicogenomics Database:7110, Ensembl:ENSG00000144747, GenAtlas:TMF1, GeneCard:TMF1, HGNC:HGNC:11870, HumanCyc Gene:HS07201, ModBase:P82094, NCBI Gene:7110, OMIM:601126, RefSeq DNA:NT_022459, RefSeq Protein:NP_009045, RefSeq RNA:NM_007114, UCSC Genome Browser:NM_007114, UniProtKB:P82094, UniProtKB:Q6PII6 No chr3 69068978 69101484 69019827 69052397 +PA134972473 259236 HGNC:30800 ENSG00000181585 transmembrane inner ear TMIE DFNB6 Yes No Comparative Toxicogenomics Database:259236, Ensembl:ENSG00000181585, GeneCard:TMIE, HGNC:HGNC:30800, HumanCyc Gene:HS17699, NCBI Gene:259236, OMIM:600971, OMIM:607237, RefSeq DNA:NG_011628, RefSeq DNA:NT_022517, RefSeq Protein:NP_671729, RefSeq RNA:NM_147196, UniProtKB:Q8NEW7 No chr3 46742823 46752413 46693800 46710923 +PA142670725 388364 HGNC:32431 ENSG00000182271 transmembrane and immunoglobulin domain containing 1 TMIGD1 TMIGD, UNQ9372 Yes No Comparative Toxicogenomics Database:388364, Ensembl:ENSG00000182271, GeneCard:TMIGD1, HGNC:HGNC:32431, ModBase:Q6UXZ0, NCBI Gene:388364, RefSeq DNA:NT_010799, RefSeq Protein:NP_996663, RefSeq RNA:NM_206832, UniProtKB:Q6UXZ0 No chr17 28643351 28661065 30316329 30334076 +PA145148047 126259 HGNC:28324 ENSG00000167664 transmembrane and immunoglobulin domain containing 2 TMIGD2 CD28 homologue, immunoglobulin-containing and proline-rich receptor-1 CD28H, IGPR-1, MGC23244 Yes No Ensembl:ENSG00000167664, GeneCard:TMIGD2, HGNC:HGNC:28324, HumanCyc Gene:HS15585, ModBase:Q96BF3, NCBI Gene:126259, RefSeq DNA:NT_011255, RefSeq Protein:NP_001162597, RefSeq Protein:NP_653216, RefSeq RNA:NM_001169126, RefSeq RNA:NM_144615, UniProtKB:Q96BF3 No chr19 4292224 4302428 4292227 4302439 +PA166123749 57413 HGNC:51375 ENSG00000121933 transmembrane and immunoglobulin domain containing 3 TMIGD3 AD026 Yes No Ensembl:ENSG00000121933, HGNC:HGNC:51375, NCBI Gene:57413 No +PA38311 55217 HGNC:18308 ENSG00000185973 trimethyllysine hydroxylase, epsilon TMLHE butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2 BBOX2, FLJ10727, TMLH, XAP130 Yes No Comparative Toxicogenomics Database:55217, Ensembl:ENSG00000185973, GenAtlas:TMLHE, GeneCard:TMLHE, HGNC:HGNC:18308, HumanCyc Gene:HS08089, ModBase:Q9NVH6, NCBI Gene:55217, OMIM:300777, RefSeq DNA:NG_021318, RefSeq DNA:NT_167198, RefSeq Protein:NP_001171726, RefSeq Protein:NP_060666, RefSeq RNA:NM_001184797, RefSeq RNA:NM_018196, UCSC Genome Browser:NM_018196, UniProtKB:Q9NVH6 No chrX 154718672 154842622 155489007 155612961 +PA36572 7111 HGNC:11871 ENSG00000136842 tropomodulin 1 TMOD1 D9S57E, ETMOD, TMOD Yes No Comparative Toxicogenomics Database:7111, Ensembl:ENSG00000136842, GeneCard:TMOD1, HGNC:HGNC:11871, HumanCyc Gene:HS06224, ModBase:P28289, NCBI Gene:7111, OMIM:190930, RefSeq DNA:NT_008470, RefSeq Protein:NP_001159588, RefSeq Protein:NP_003266, RefSeq RNA:NM_001166116, RefSeq RNA:NM_003275, UCSC Genome Browser:NM_003275, UniProtKB:P28289 No chr9 100263462 100367177 97501180 97601743 +PA36573 29767 HGNC:11872 ENSG00000128872 tropomodulin 2 TMOD2 neuronal tropomodulin, tropomodulin 2 (neuronal) NTMOD Yes No Ensembl:ENSG00000128872, GenAtlas:TMOD2, GeneCard:TMOD2, HGNC:HGNC:11872, HumanCyc Gene:HS05229, ModBase:Q9NZR1, NCBI Gene:29767, OMIM:602928, RefSeq DNA:NT_010194, RefSeq Protein:NP_001136357, RefSeq Protein:NP_055363, RefSeq RNA:NM_001142885, RefSeq RNA:NM_014548, UCSC Genome Browser:NM_014548, UniProtKB:B4DEW6, UniProtKB:Q9NZR1 No chr15 52043758 52108560 51751561 51816363 +PA36574 29766 HGNC:11873 ENSG00000138594 tropomodulin 3 TMOD3 tropomodulin 3 (ubiquitous), ubiquitous tropomodulin UTMOD Yes No Ensembl:ENSG00000138594, GenAtlas:TMOD3, GeneCard:TMOD3, HGNC:HGNC:11873, HumanCyc Gene:HS06515, ModBase:Q9NYL9, NCBI Gene:29766, OMIM:605112, RefSeq DNA:NT_010194, RefSeq Protein:NP_055362, RefSeq RNA:NM_014547, UCSC Genome Browser:NM_014547, UniProtKB:Q9NYL9 No chr15 52121825 52204335 51829628 51912138 +PA36575 29765 HGNC:11874 ENSG00000163157 tropomodulin 4 TMOD4 actin-capping protein, skeletal tropomodulin, tropomodulin 4 (muscle) Sk-Tmod Yes No Ensembl:ENSG00000163157, GenAtlas:TMOD4, GeneCard:TMOD4, HGNC:HGNC:11874, HumanCyc Gene:HS08795, ModBase:Q9NZQ9, NCBI Gene:29765, OMIM:605834, RefSeq DNA:NT_004487, RefSeq Protein:NP_037485, RefSeq RNA:NM_013353, UCSC Genome Browser:NM_013353, UniProtKB:Q9NZQ9 No chr1 151142463 151148547 151169986 151176071 +PA36576 7112 HGNC:11875 ENSG00000120802 thymopoietin TMPO LEM domain containing 4 LAP2, LEMD4, TP Yes No Comparative Toxicogenomics Database:7112, Ensembl:ENSG00000120802, GenAtlas:TMPO, GeneCard:TMPO, HGNC:HGNC:11875, HumanCyc Gene:HS04437, ModBase:P42166, ModBase:P42167, NCBI Gene:7112, OMIM:188380, RefSeq DNA:NG_021393, RefSeq DNA:NT_029419, RefSeq Protein:NP_001027454, RefSeq Protein:NP_001027455, RefSeq Protein:NP_003267, RefSeq RNA:NM_001032283, RefSeq RNA:NM_001032284, RefSeq RNA:NM_003276, UCSC Genome Browser:NM_003276, UniProtKB:P42166, UniProtKB:P42167 No chr12 98909351 98944157 98515573 98550379 +PA134898690 100129772 HGNC:21364 ENSG00000229068 thymopoietin pseudogene 1 TMPOP1 Em:AB014080.3 Yes No Ensembl:ENSG00000229068, GeneCard:TMPOP1, HGNC:HGNC:21364, NCBI Gene:100129772 No chr6 30434002 30436646 30466225 30468869 +PA164726564 643853 HGNC:33865 ENSG00000188167 transmembrane protein with metallophosphoesterase domain TMPPE FLJ45032 Yes No Ensembl:ENSG00000188167, GeneCard:TMPPE, HGNC:HGNC:33865, NCBI Gene:643853, RefSeq DNA:NT_022517, RefSeq Protein:NP_001034859, RefSeq Protein:NP_001129710, RefSeq RNA:NM_001039770, RefSeq RNA:NM_001136238, UniProtKB:Q6ZT21 No chr3 33038219 33138689 33090416 33096801 +PA142670726 339967 HGNC:27954 ENSG00000187054 transmembrane serine protease 11A TMPRSS11A """airway trypsin-like protease 1"", ""transmembrane protease, serine 11A""" ECRG1, HATL1, HESP Yes No Ensembl:ENSG00000187054, GeneCard:TMPRSS11A, HGNC:HGNC:27954, ModBase:Q6ZMR5, NCBI Gene:339967, OMIM:611704, RefSeq DNA:NT_022778, RefSeq Protein:NP_001107859, RefSeq Protein:NP_872412, RefSeq RNA:NM_001114387, RefSeq RNA:NM_182606, UniProtKB:A8KA85, UniProtKB:B5MDI9, UniProtKB:Q6ZMR5 No chr4 68776019 68829232 67910301 67963514 +PA142670727 132724 HGNC:25398 ENSG00000185873 transmembrane serine protease 11B TMPRSS11B """airway trypsin-like protease 5"", ""transmembrane protease, serine 11B""" HATL5 Yes No Ensembl:ENSG00000185873, GeneCard:TMPRSS11B, HGNC:HGNC:25398, NCBI Gene:132724, RefSeq DNA:NT_022778, RefSeq Protein:NP_872308, RefSeq RNA:NM_182502, UniProtKB:Q86T26 No chr4 69092371 69111412 68226653 68245694 +PA165664737 401136 HGNC:37262 ENSG00000250026 TMPRSS11B N terminal-like TMPRSS11BNL FLJ41562 Yes No Ensembl:ENSG00000250026, GeneCard:TMPRSS11BNL, HGNC:HGNC:37262, NCBI Gene:401136, RefSeq DNA:NT_022778, RefSeq Protein:NP_001123379, RefSeq RNA:NM_001129907, UniProtKB:B3KVV0 No chr4 69054242 69083798 68184129 68218080 +PA142670728 9407 HGNC:24059 ENSG00000153802 transmembrane serine protease 11D TMPRSS11D """adrenal secretory serine protease"", ""airway trypsin like protease"", ""transmembrane protease, serine 11D""" ASP, HAT Yes No Ensembl:ENSG00000153802, GeneCard:TMPRSS11D, HGNC:HGNC:24059, HumanCyc Gene:HS07922, ModBase:O60235, NCBI Gene:9407, OMIM:605369, RefSeq DNA:NT_022778, RefSeq Protein:NP_004253, RefSeq RNA:NM_004262, UniProtKB:O60235 No chr4 68686594 68749716 67820876 67885063 +PA142670729 28983 HGNC:24465 ENSG00000087128 transmembrane serine protease 11E TMPRSS11E transmembrane protease, serine 11E DESC1, TMPRSS11E2 Yes Yes Ensembl:ENSG00000087128, GeneCard:TMPRSS11E, HGNC:HGNC:24465, HumanCyc Gene:HS01559, HumanCyc Gene:HS10675, ModBase:Q9UL52, NCBI Gene:28983, OMIM:610399, RefSeq DNA:NT_022778, RefSeq DNA:NT_167250, RefSeq Protein:NP_001093132, RefSeq Protein:NP_054777, RefSeq RNA:NM_001099662, RefSeq RNA:NM_014058, UniProtKB:Q9UL52 No chr4 69313167 69363322 68447449 68497604 +PA142670730 389208 HGNC:29994 ENSG00000198092 transmembrane serine protease 11F TMPRSS11F """airway trypsin-like protease 4"", ""transmembrane protease, serine 11F""" FLJ16046, HATL4 Yes No Ensembl:ENSG00000198092, GeneCard:TMPRSS11F, HGNC:HGNC:29994, ModBase:Q6ZWK6, NCBI Gene:389208, RefSeq DNA:NT_022778, RefSeq Protein:NP_997290, RefSeq RNA:NM_207407, UniProtKB:Q6ZWK6 No chr4 68918916 68995587 68053198 68129869 +PA142670731 283471 HGNC:28779 ENSG00000186452 transmembrane serine protease 12 TMPRSS12 transmembrane (C-terminal) protease, serine 12 CT151, MGC57341 Yes No Ensembl:ENSG00000186452, GeneCard:TMPRSS12, HGNC:HGNC:28779, ModBase:Q86WS5, NCBI Gene:283471, RefSeq DNA:NT_029419, RefSeq Protein:NP_872365, RefSeq RNA:NM_182559, UniProtKB:Q86WS5 No chr12 51236701 51281667 50842918 50887884 +PA142670732 84000 HGNC:29808 ENSG00000137747 transmembrane serine protease 13 TMPRSS13 """Membrane-type mosaic serine protease"", ""transmembrane protease, serine 13""" MSPL, MSPS, TMPRSS11 Yes No Ensembl:ENSG00000137747, GeneCard:TMPRSS13, HGNC:HGNC:29808, HumanCyc Gene:HS06386, ModBase:Q9BYE2, NCBI Gene:84000, OMIM:610050, RefSeq DNA:NT_033899, RefSeq Protein:NP_001070731, RefSeq Protein:NP_001193718, RefSeq Protein:NP_001193719, RefSeq RNA:NM_001077263, RefSeq RNA:NM_001206789, RefSeq RNA:NM_001206790, UniProtKB:Q1RMF8 No chr11 117771356 117800168 117900641 117929453 +PA33839 5651 HGNC:9490 ENSG00000154646 transmembrane serine protease 15 TMPRSS15 """enteropeptidase"", ""proenterokinase"", ""transmembrane protease, serine 15""" ENTK, MGC133046, PRSS7 Yes No Comparative Toxicogenomics Database:5651, Ensembl:ENSG00000154646, GenAtlas:PRSS7, GeneCard:PRSS7, GeneCard:TMPRSS15, HGNC:HGNC:9490, HumanCyc Gene:HS07996, ModBase:P98073, NCBI Gene:5651, OMIM:226200, OMIM:606635, RefSeq DNA:NG_012207, RefSeq DNA:NT_011512, RefSeq Protein:NP_002763, RefSeq RNA:NM_002772, UCSC Genome Browser:NM_002772, UniProtKB:P98073 No chr21 19641433 19775970 18269107 18403806 +PA36577 7113 HGNC:11876 ENSG00000184012 transmembrane serine protease 2 TMPRSS2 transmembrane protease, serine 2 PRSS10 Yes Yes Comparative Toxicogenomics Database:7113, Ensembl:ENSG00000184012, GenAtlas:TMPRSS2, GeneCard:TMPRSS2, HGNC:HGNC:11876, ModBase:O15393, NCBI Gene:7113, OMIM:602060, RefSeq DNA:NT_011512, RefSeq Protein:NP_001128571, RefSeq Protein:NP_005647, RefSeq RNA:NM_001135099, RefSeq RNA:NM_005656, UCSC Genome Browser:NM_005656, UniProtKB:O15393 No chr21 42836236 42880085 41464551 41508158 +PA36578 64699 HGNC:11877 ENSG00000160183 transmembrane serine protease 3 TMPRSS3 transmembrane protease, serine 3 DFNB10, DFNB8 Yes No Comparative Toxicogenomics Database:64699, Ensembl:ENSG00000160183, GenAtlas:TMPRSS3, GeneCard:TMPRSS3, HGNC:HGNC:11877, HumanCyc Gene:HS08453, ModBase:P57727, NCBI Gene:64699, OMIM:601072, OMIM:605316, OMIM:605511, RefSeq DNA:NG_011629, RefSeq DNA:NT_011515, RefSeq Protein:NP_076927, RefSeq Protein:NP_115781, RefSeq RNA:NM_024022, RefSeq RNA:NM_032405, RefSeq RNA:NR_027348, UCSC Genome Browser:NM_024022, UniProtKB:P57727 No chr21 43791996 43816955 42371887 42396846 +PA36579 56649 HGNC:11878 ENSG00000137648 transmembrane serine protease 4 TMPRSS4 """channel-activating serine protease 2"", ""membrane-type serine protease 2"", ""transmembrane protease, serine 4"", ""transmembrane serine protease 3"", ""type II membrane serine protease""" CAP2, MT-SP2, TMPRSS3 Yes No Comparative Toxicogenomics Database:56649, Ensembl:ENSG00000137648, GenAtlas:TMPRSS4, GeneCard:TMPRSS4, HGNC:HGNC:11878, HumanCyc Gene:HS06369, ModBase:Q9NRS4, NCBI Gene:56649, OMIM:606565, RefSeq DNA:NG_011858, RefSeq DNA:NT_033899, RefSeq Protein:NP_001077416, RefSeq Protein:NP_001167022, RefSeq Protein:NP_001167023, RefSeq Protein:NP_063947, RefSeq RNA:NM_001083947, RefSeq RNA:NM_001173551, RefSeq RNA:NM_001173552, RefSeq RNA:NM_019894, UCSC Genome Browser:NM_019894, UniProtKB:B7Z8C5, UniProtKB:B7Z8X1, UniProtKB:B7Z900, UniProtKB:Q9NRS4 No chr11 117947727 117996323 118077012 118125505 +PA37920 80975 HGNC:14908 ENSG00000166682 transmembrane serine protease 5 TMPRSS5 """spinesin"", ""transmembrane protease, serine 5""" MGC141886, MGC148044 Yes No Ensembl:ENSG00000166682, GenAtlas:TMPRSS5, GeneCard:TMPRSS5, HGNC:HGNC:14908, HumanCyc Gene:HS09436, ModBase:Q9H3S3, NCBI Gene:80975, OMIM:606751, RefSeq DNA:NT_033899, RefSeq Protein:NP_110397, RefSeq RNA:NM_030770, UCSC Genome Browser:NM_030770, UniProtKB:Q0P513, UniProtKB:Q9H3S3 No chr11 113558268 113577151 113687546 113709811 +PA134880399 164656 HGNC:16517 ENSG00000187045 transmembrane serine protease 6 TMPRSS6 """matriptase-2"", ""transmembrane protease, serine 6""" FLJ30744, MT2 Yes No Comparative Toxicogenomics Database:164656, Ensembl:ENSG00000187045, GeneCard:TMPRSS6, HGNC:HGNC:16517, HumanCyc Gene:HS12406, ModBase:Q8IXV8, NCBI Gene:164656, OMIM:206200, OMIM:609862, RefSeq DNA:NG_012856, RefSeq DNA:NT_011520, RefSeq Protein:NP_705837, RefSeq RNA:NM_153609, UniProtKB:Q8IU80 No chr22 37461476 37499693 37065436 37109701 +PA134928796 344805 HGNC:30846 ENSG00000176040 transmembrane serine protease 7 TMPRSS7 """matriptase-3"", ""transmembrane protease, serine 7""" Yes No Comparative Toxicogenomics Database:344805, Ensembl:ENSG00000176040, GeneCard:TMPRSS7, HGNC:HGNC:30846, NCBI Gene:344805, RefSeq DNA:NT_005612, RefSeq Protein:NP_001036040, RefSeq RNA:NM_001042575, RefSeq RNA:NR_026734, UniProtKB:Q7RTY8 No chr3 111758465 111800116 112039067 112081269 +PA134967594 360200 HGNC:30079 ENSG00000178297 transmembrane serine protease 9 TMPRSS9 """polyserase 1"", ""transmembrane protease, serine 9""" Yes No Ensembl:ENSG00000178297, GeneCard:TMPRSS9, HGNC:HGNC:30079, ModBase:Q7Z410, NCBI Gene:360200, OMIM:610477, RefSeq DNA:NT_011255, RefSeq Protein:NP_892018, RefSeq RNA:NM_182973, UniProtKB:Q7Z410 No chr19 2381507 2426480 2385254 2426261 +PA36580 9168 HGNC:11879 ENSG00000034510 thymosin beta 10 TMSB10 TB10 Yes Yes Comparative Toxicogenomics Database:9168, Ensembl:ENSG00000034510, GenAtlas:TMSB10, GeneCard:TMSB10, HGNC:HGNC:11879, HumanCyc Gene:HS00500, ModBase:P63313, NCBI Gene:9168, OMIM:188399, RefSeq DNA:NT_022184, RefSeq Protein:NP_066926, RefSeq RNA:NM_021103, UCSC Genome Browser:NM_021103, UniProtKB:P63313, UniProtKB:Q596K9 No chr2 85132763 85133799 84905639 84906675 +PA164726573 11013 HGNC:30744 ENSG00000158164 thymosin beta 15A TMSB15A thymosin beta 15a TMSL8, TMSNB Yes No Comparative Toxicogenomics Database:11013, Ensembl:ENSG00000158164, GeneCard:TMSB15A, HGNC:HGNC:30744, HumanCyc Gene:HS08289, ModBase:Q99406, NCBI Gene:11013, OMIM:601587, RefSeq DNA:NT_011651, RefSeq Protein:NP_068832, RefSeq RNA:NM_021992, UCSC Genome Browser:NM_021992, UniProtKB:Q99406 No chrX 101768610 101771699 102513682 102516771 +PA164726584 286527 HGNC:28612 ENSG00000158164, ENSG00000158427 thymosin beta 15B TMSB15B MGC39900 Yes No Ensembl:ENSG00000158164, Ensembl:ENSG00000158427, GeneCard:TMSB15B, HGNC:HGNC:28612, NCBI Gene:286527, RefSeq DNA:NT_011651, RefSeq Protein:NP_919305, RefSeq RNA:NM_194324, UniProtKB:P0CG34, UniProtKB:P0CG35 No chrX 103217200 103220563 103962627 103965990 +PA166352232 122394733 HGNC:55173 thymosin beta 15C TMSB15C Yes No HGNC:HGNC:55173, NCBI Gene:122394733 No 0 0 0 0 +PA36581 7114 HGNC:11881 ENSG00000205542 thymosin beta 4 X-linked TMSB4X thymosin beta 4, X-linked TB4X, TMSB4 Yes No Comparative Toxicogenomics Database:7114, Ensembl:ENSG00000205542, GenAtlas:TMSB4X, GeneCard:TMSB4X, HGNC:HGNC:11881, ModBase:P62328, NCBI Gene:7114, OMIM:300159, RefSeq DNA:NT_167197, RefSeq Protein:NP_066932, RefSeq RNA:NM_021109, UCSC Genome Browser:NM_021109, UniProtKB:A2VCK8, UniProtKB:P62328, UniProtKB:Q0P5T0 No chrX 12993226 12995346 12975107 12977227 +PA36583 7115 HGNC:11883 ENSG00000236876 thymosin beta 4, X-linked pseudogene 1 TMSB4XP1 Yes No Ensembl:ENSG00000236876, GenAtlas:TMSL1, GeneCard:TMSB4XP1, HGNC:HGNC:11883, ModBase:Q08EQ4, NCBI Gene:7115, RefSeq DNA:NG_004714, RefSeq DNA:NT_032977, UCSC Genome Browser:NM_182792 No chr1 42965452 42966088 42499781 42500417 +PA36584 7116 HGNC:11884 ENSG00000188765 thymosin beta 4, X-linked pseudogene 2 TMSB4XP2 Yes No Ensembl:ENSG00000188765, GenAtlas:TMSL2, GeneCard:TMSB4XP2, HGNC:HGNC:11884, NCBI Gene:7116, RefSeq DNA:NG_004719, RefSeq DNA:NT_022139, UCSC Genome Browser:NM_182793 No chr2 3664728 3665350 3617138 3617760 +PA165618440 100873877 HGNC:38587 ENSG00000223437 thymosin beta 4, X-linked pseudogene 3 TMSB4XP3 Yes No Ensembl:ENSG00000223437, HGNC:HGNC:38587, NCBI Gene:100873877 No chr7 29665480 29665617 29625864 29626001 +PA36586 7118 HGNC:11886 ENSG00000223551 thymosin beta 4, X-linked pseudogene 4 TMSB4XP4 Yes No Ensembl:ENSG00000223551, GenAtlas:TMSL4, GeneCard:TMSB4XP4, HGNC:HGNC:11886, NCBI Gene:7118, RefSeq DNA:NG_004715, RefSeq DNA:NT_008470, UCSC Genome Browser:NM_182794 No chr9 131104433 131105053 128342154 128342774 +PA36587 7119 HGNC:11887 thymosin beta 4, X-linked pseudogene 5 TMSB4XP5 Yes No GenAtlas:TMSL5, GeneCard:TMSB4XP5, HGNC:HGNC:11887, NCBI Gene:7119, RefSeq DNA:NG_002996, RefSeq DNA:NT_167190 No chr11 63287903 63288424 63520431 63520952 +PA36588 7120 HGNC:11888 ENSG00000230043 thymosin beta 4, X-linked pseudogene 6 TMSB4XP6 dJ1071L10.1 Yes No Ensembl:ENSG00000230043, GenAtlas:TMSL6, GeneCard:TMSB4XP6, HGNC:HGNC:11888, ModBase:A9Z1Y9, NCBI Gene:7120, RefSeq DNA:NG_006508, RefSeq DNA:NT_011362, UCSC Genome Browser:NM_181428 No chr20 49456748 49457364 50840211 50840827 +PA36589 7121 HGNC:11889 thymosin beta 4, X-linked pseudogene 7 TMSB4XP7 Yes No GenAtlas:TMSL7, GeneCard:TMSB4XP7, HGNC:HGNC:11889, NCBI Gene:7121, RefSeq DNA:NG_002997, RefSeq DNA:NT_028405 No chrX 114367476 114368062 115132913 115133499 +PA36585 7117 HGNC:11885 ENSG00000187653 thymosin beta 4, X-linked pseudogene 8 TMSB4XP8 Yes No Ensembl:ENSG00000187653, GenAtlas:TMSL3, GeneCard:TMSB4XP8, HGNC:HGNC:11885, ModBase:A8MW06, NCBI Gene:7117, RefSeq DNA:NT_016354, RefSeq Protein:NP_898870, RefSeq RNA:NM_183049, UCSC Genome Browser:NM_183049, UniProtKB:A8MW06 No chr4 91759636 91760266 90838485 90839115 +PA36582 9087 HGNC:11882 ENSG00000154620 thymosin beta 4 Y-linked TMSB4Y thymosin beta 4, Y-linked TB4Y Yes No Ensembl:ENSG00000154620, GenAtlas:TMSB4Y, GeneCard:TMSB4Y, HGNC:HGNC:11882, HumanCyc Gene:HS07992, ModBase:O14604, NCBI Gene:9087, OMIM:400017, RefSeq DNA:NT_011875, RefSeq Protein:NP_004193, RefSeq RNA:NM_004202, UCSC Genome Browser:NM_004202, UniProtKB:O14604 No chrY 15815447 15817904 13703567 13706024 +PA128394635 25840 HGNC:24550 ENSG00000185432 thiol methyltransferase 1A TMT1A methyltransferase like 7A DKFZP586A0522, METTL7A Yes No Comparative Toxicogenomics Database:25840, Ensembl:ENSG00000185432, GeneCard:METTL7A, HGNC:HGNC:24550, ModBase:Q9H8H3, NCBI Gene:25840, RefSeq DNA:NT_029419, RefSeq Protein:NP_054752, RefSeq RNA:NM_014033, UCSC Genome Browser:NM_014033, UniProtKB:Q9H8H3 No chr12 51317780 51326300 50923811 50932517 +PA143485533 196410 HGNC:28276 ENSG00000170439 thiol methyltransferase 1B TMT1B associated with lipid droplets 1, methyltransferase like 7B ALDI, METTL7B, MGC17301 Yes No Comparative Toxicogenomics Database:196410, Ensembl:ENSG00000170439, GeneCard:METTL7B, HGNC:HGNC:28276, HumanCyc Gene:HS10128, NCBI Gene:196410, RefSeq DNA:NT_029419, RefSeq Protein:NP_689850, RefSeq RNA:NM_152637, UniProtKB:Q6UX53 No chr12 56075330 56078395 55681546 55684611 +PA142670718 83857 HGNC:24099 ENSG00000133687 transmembrane O-mannosyltransferase targeting cadherins 1 TMTC1 transmembrane and tetratricopeptide repeat containing 1 ARG99, FLJ31400, FLJ41625, OLF Yes No Ensembl:ENSG00000133687, GeneCard:TMTC1, HGNC:HGNC:24099, HumanCyc Gene:HS13491, ModBase:Q8IUR5, NCBI Gene:83857, RefSeq DNA:NT_009714, RefSeq Protein:NP_001180380, RefSeq Protein:NP_787057, RefSeq RNA:NM_001193451, RefSeq RNA:NM_175861, UniProtKB:B3KVW1, UniProtKB:Q8IUR5 No chr12 29653746 29937692 29500813 29784759 +PA142670719 160335 HGNC:25440 ENSG00000179104 transmembrane O-mannosyltransferase targeting cadherins 2 TMTC2 transmembrane and tetratricopeptide repeat containing 2 DKFZp762A217 Yes No Comparative Toxicogenomics Database:160335, Ensembl:ENSG00000179104, GeneCard:TMTC2, HGNC:HGNC:25440, HumanCyc Gene:HS17203, ModBase:Q8N394, NCBI Gene:160335, RefSeq DNA:NT_029419, RefSeq Protein:NP_689801, RefSeq RNA:NM_152588, UniProtKB:Q8N394 No chr12 83080731 83528647 82686952 83134868 +PA142670720 160418 HGNC:26899 ENSG00000139324 transmembrane O-mannosyltransferase targeting cadherins 3 TMTC3 transmembrane and tetratricopeptide repeat containing 3 FLJ90492, SMILE Yes No Ensembl:ENSG00000139324, GeneCard:TMTC3, HGNC:HGNC:26899, NCBI Gene:160418, RefSeq DNA:NG_021187, RefSeq DNA:NT_029419, RefSeq Protein:NP_861448, RefSeq RNA:NM_181783, UniProtKB:A8K321, UniProtKB:Q6ZXV5 No chr12 88536073 88593664 88142296 88199887 +PA142670721 84899 HGNC:25904 ENSG00000125247 transmembrane O-mannosyltransferase targeting cadherins 4 TMTC4 transmembrane and tetratricopeptide repeat containing 4 FLJ14624, FLJ22153 Yes No Ensembl:ENSG00000125247, GeneCard:TMTC4, HGNC:HGNC:25904, HumanCyc Gene:HS13155, NCBI Gene:84899, RefSeq DNA:NT_009952, RefSeq Protein:NP_001073137, RefSeq Protein:NP_116202, RefSeq RNA:NM_001079669, RefSeq RNA:NM_032813, UniProtKB:Q5T4D3 No chr13 101256090 101327103 100603836 100675025 +PA134863959 83590 HGNC:21709 ENSG00000164897 transmembrane and ubiquitin like domain containing 1 TMUB1 hepatocyte odd protein shuttling, transmembrane and ubiquitin-like domain containing 1 C7orf21, HOPS, SB144 Yes No Ensembl:ENSG00000164897, GeneCard:TMUB1, HGNC:HGNC:21709, HumanCyc Gene:HS15251, ModBase:Q9BVT8, NCBI Gene:83590, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001129516, RefSeq Protein:NP_113622, RefSeq RNA:NM_001136044, RefSeq RNA:NM_031434, UniProtKB:Q9BVT8 No chr7 150778172 150780620 151081085 151083533 +PA145147917 79089 HGNC:28459 ENSG00000168591 transmembrane and ubiquitin like domain containing 2 TMUB2 transmembrane and ubiquitin-like domain containing 2 MGC3123 Yes No Ensembl:ENSG00000168591, GeneCard:TMUB2, HGNC:HGNC:28459, HumanCyc Gene:HS15688, ModBase:Q71RG4, NCBI Gene:79089, RefSeq DNA:NT_010783, RefSeq Protein:NP_001070142, RefSeq Protein:NP_077012, RefSeq Protein:NP_803190, RefSeq RNA:NM_001076674, RefSeq RNA:NM_024107, RefSeq RNA:NM_177441, UniProtKB:Q6UWG3, UniProtKB:Q71RG4 No chr17 42264300 42269099 44186956 44191731 +PA37968 81542 HGNC:15487 ENSG00000139921 thioredoxin related transmembrane protein 1 TMX1 """protein disulfide isomerase family A, member 11"", ""thioredoxin-related transmembrane protein"", ""thioredoxin-related transmembrane protein 1""" PDIA11, TMX, TXNDC, TXNDC1 Yes No Ensembl:ENSG00000139921, GenAtlas:TXNDC, GeneCard:TMX1, GeneCard:TXNDC, HGNC:HGNC:15487, HumanCyc Gene:HS06668, NCBI Gene:81542, OMIM:610527, RefSeq DNA:NT_026437, RefSeq DNA:NT_026437.11, RefSeq Protein:NP_110382, RefSeq Protein:NP_110382.3, RefSeq RNA:NM_030755, RefSeq RNA:NM_030755.4, UCSC Genome Browser:NM_030755, UniProtKB:Q9H3N1 No chr14 51706886 51724373 51240168 51257655 +PA164726611 51075 HGNC:30739 ENSG00000213593 thioredoxin related transmembrane protein 2 TMX2 """protein disulfide isomerase family A, member 12"", ""thioredoxin-related transmembrane protein 2""" PDIA12, TXNDC14 Yes Yes Comparative Toxicogenomics Database:51075, Ensembl:ENSG00000213593, GeneCard:TMX2, HGNC:HGNC:30739, NCBI Gene:51075, RefSeq DNA:NT_033903, RefSeq DNA:NT_167190, RefSeq Protein:NP_001137484, RefSeq Protein:NP_057043, RefSeq RNA:NM_001144012, RefSeq RNA:NM_015959, RefSeq RNA:NR_026593, RefSeq RNA:NR_037645, UniProtKB:Q9Y320 No chr11 57479995 57508445 57712523 57740973 +PA164726632 54495 HGNC:24718 ENSG00000166479 thioredoxin related transmembrane protein 3 TMX3 """protein disulfide isomerase family A, member 13"", ""thioredoxin-related transmembrane protein 3""" FLJ20793, KIAA1830, PDIA13, TXNDC10 Yes No Ensembl:ENSG00000166479, GeneCard:TMX3, HGNC:HGNC:24718, ModBase:Q96JJ7, NCBI Gene:54495, RefSeq DNA:NT_025028, RefSeq Protein:NP_061895, RefSeq RNA:NM_019022, UniProtKB:Q96JJ7 No chr18 66340925 66382535 68673688 68715116 +PA164726669 56255 HGNC:25237 ENSG00000125827 thioredoxin related transmembrane protein 4 TMX4 """protein disulfide isomerase family A, member 14"", ""thioredoxin-related transmembrane protein 4""" DJ971N18.2, KIAA1162, PDIA14, TXNDC13 Yes No Comparative Toxicogenomics Database:56255, Ensembl:ENSG00000125827, GeneCard:TMX4, HGNC:HGNC:25237, HumanCyc Gene:HS04948, ModBase:Q9H1E5, NCBI Gene:56255, RefSeq DNA:NT_011387, RefSeq Protein:NP_066979, RefSeq RNA:NM_021156, UniProtKB:Q9H1E5 No chr20 7961713 8000393 7977353 8019829 +PA35103 3371 HGNC:5318 ENSG00000041982 tenascin C TNC hexabrachion (tenascin) DFNA56, HXB, MGC167029, TN Yes No Comparative Toxicogenomics Database:3371, Ensembl:ENSG00000041982, GenAtlas:TNC, GeneCard:TNC, HGNC:HGNC:5318, HumanCyc Gene:HS00556, ModBase:P24821, NCBI Gene:3371, OMIM:187380, RefSeq DNA:NT_008470, RefSeq Protein:NP_002151, RefSeq RNA:NM_002160, UCSC Genome Browser:NM_002160, UniProtKB:P24821, UniProtKB:Q4LE33 No chr9 117781854 117880536 115019575 115118257 +PA435 7124 HGNC:11892 ENSG00000204490, ENSG00000206439, ENSG00000223952, ENSG00000228321, ENSG00000228849, ENSG00000230108, ENSG00000232810 tumor necrosis factor TNF TNF superfamily, member 2 DIF, TNF-alpha, TNFA, TNFSF2 Yes Yes Comparative Toxicogenomics Database:7124, Ensembl:ENSG00000204490, Ensembl:ENSG00000206439, Ensembl:ENSG00000223952, Ensembl:ENSG00000228321, Ensembl:ENSG00000228849, Ensembl:ENSG00000230108, Ensembl:ENSG00000232810, GenAtlas:TNF, GeneCard:TNF, HGNC:HGNC:11892, HumanCyc Gene:HS03486, ModBase:P01375, NCBI Gene:7124, OMIM:157300, OMIM:191160, OMIM:248310, OMIM:600807, OMIM:611162, RefSeq DNA:NG_007462, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_000585, RefSeq RNA:NM_000594, UCSC Genome Browser:NM_000594, UniProtKB:C1K3N5, UniProtKB:P01375, UniProtKB:Q5STB3 No chr6 31543344 31546113 31575567 31578336 +PA36591 7126 HGNC:11894 ENSG00000109079 TNF alpha induced protein 1 TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial) B12, B61, BTBD34, EDP1, MGC2317 Yes No Comparative Toxicogenomics Database:7126, Ensembl:ENSG00000109079, GenAtlas:TNFAIP1, GeneCard:TNFAIP1, HGNC:HGNC:11894, HumanCyc Gene:HS03195, ModBase:Q13829, NCBI Gene:7126, OMIM:191161, RefSeq DNA:NT_010799, RefSeq Protein:NP_066960, RefSeq RNA:NM_021137, UCSC Genome Browser:NM_021137, UniProtKB:Q13829 No chr17 26662548 26674035 28335522 28347009 +PA36592 7127 HGNC:11895 ENSG00000185215 TNF alpha induced protein 2 TNFAIP2 """exocyst complex component 3-like 3"", ""tumor necrosis factor, alpha-induced protein 2""" B94, EXOC3L3 Yes No Comparative Toxicogenomics Database:7127, Ensembl:ENSG00000185215, GenAtlas:TNFAIP2, GeneCard:TNFAIP2, HGNC:HGNC:11895, ModBase:Q03169, NCBI Gene:7127, OMIM:603300, RefSeq DNA:NT_026437, RefSeq Protein:NP_006282, RefSeq RNA:NM_006291, UCSC Genome Browser:NM_006291, UniProtKB:Q03169 No chr14 103589762 103603776 103121175 103137439 +PA36593 7128 HGNC:11896 ENSG00000118503 TNF alpha induced protein 3 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 A20, OTUD7C Yes Yes Comparative Toxicogenomics Database:7128, Ensembl:ENSG00000118503, GenAtlas:TNFAIP3, GeneCard:TNFAIP3, HGNC:HGNC:11896, HumanCyc Gene:HS04225, ModBase:P21580, NCBI Gene:7128, OMIM:191163, RefSeq DNA:NT_025741, RefSeq Protein:NP_006281, RefSeq RNA:NM_006290, UCSC Genome Browser:NM_006290, UniProtKB:P21580 No chr6 138188325 138204451 137866317 137883314 +PA36595 7130 HGNC:11898 ENSG00000123610 TNF alpha induced protein 6 TNFAIP6 tumor necrosis factor, alpha-induced protein 6 TSG-6, TSG6 Yes No Comparative Toxicogenomics Database:7130, Ensembl:ENSG00000123610, GenAtlas:TNFAIP6, GeneCard:TNFAIP6, HGNC:HGNC:11898, HumanCyc Gene:HS04679, ModBase:P98066, NCBI Gene:7130, OMIM:600410, RefSeq DNA:NT_005403, RefSeq Protein:NP_009046, RefSeq RNA:NM_007115, UCSC Genome Browser:NM_007115, UniProtKB:P98066 No chr2 152214106 152236562 151357592 151380048 +PA134957136 25816 HGNC:17260 ENSG00000145779 TNF alpha induced protein 8 TNFAIP8 tumor necrosis factor, alpha-induced protein 8 GG2-1, MDC-3.13, SCC-S2 Yes No Comparative Toxicogenomics Database:25816, Ensembl:ENSG00000145779, GeneCard:TNFAIP8, HGNC:HGNC:17260, HumanCyc Gene:HS07284, ModBase:O95379, NCBI Gene:25816, OMIM:612111, RefSeq DNA:NT_034772, RefSeq Protein:NP_001071122, RefSeq Protein:NP_055165, RefSeq RNA:NM_001077654, RefSeq RNA:NM_014350, UniProtKB:O95379 No chr5 118604418 118730294 119268692 119394604 +PA142670722 126282 HGNC:28279 ENSG00000185361 TNF alpha induced protein 8 like 1 TNFAIP8L1 tumor necrosis factor, alpha-induced protein 8-like 1 MGC17791 Yes No Comparative Toxicogenomics Database:126282, Ensembl:ENSG00000185361, GeneCard:TNFAIP8L1, HGNC:HGNC:28279, NCBI Gene:126282, RefSeq DNA:NT_011255, RefSeq Protein:NP_001161414, RefSeq Protein:NP_689575, RefSeq RNA:NM_001167942, RefSeq RNA:NM_152362, UniProtKB:Q8WVP5 No chr19 4639527 4655580 4639505 4655568 +PA142670723 79626 HGNC:26277 ENSG00000163154 TNF alpha induced protein 8 like 2 TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2 FLJ23467 Yes No Ensembl:ENSG00000163154, GeneCard:TNFAIP8L2, HGNC:HGNC:26277, HumanCyc Gene:HS15032, ModBase:Q6P589, NCBI Gene:79626, OMIM:612112, RefSeq DNA:NT_004487, RefSeq Protein:NP_078851, RefSeq RNA:NM_024575, UniProtKB:Q6P589 No chr1 151129095 151132731 151156629 151159749 +PA142670724 388121 HGNC:20620 ENSG00000183578 TNF alpha induced protein 8 like 3 TNFAIP8L3 tumor necrosis factor, alpha-induced protein 8-like 3 FLJ41287 Yes No Comparative Toxicogenomics Database:388121, Ensembl:ENSG00000183578, GeneCard:TNFAIP8L3, HGNC:HGNC:20620, ModBase:Q5GJ75, NCBI Gene:388121, RefSeq DNA:NT_010194, RefSeq Protein:NP_997264, RefSeq RNA:NM_207381, UniProtKB:Q5GJ75 No chr15 51348798 51397473 51056596 51105276 +PA36597 8797 HGNC:11904 ENSG00000104689 TNF receptor superfamily member 10a TNFRSF10A tumor necrosis factor receptor superfamily, member 10a Apo2, CD261, DR4, TRAILR-1, TRAILR1 Yes Yes Comparative Toxicogenomics Database:8797, Ensembl:ENSG00000104689, GenAtlas:TNFRSF10A, GeneCard:TNFRSF10A, HGNC:HGNC:11904, HumanCyc Gene:HS02603, ModBase:O00220, NCBI Gene:8797, OMIM:603611, RefSeq DNA:NT_167187, RefSeq Protein:NP_003835, RefSeq RNA:NM_003844, UCSC Genome Browser:NM_003844, UniProtKB:O00220 No chr8 23048970 23082680 23191457 23225167 +PA36598 8795 HGNC:11905 ENSG00000120889 TNF receptor superfamily member 10b TNFRSF10B tumor necrosis factor receptor superfamily, member 10b CD262, DR5, KILLER, TRAIL-R2, TRAILR2, TRICK2A, TRICKB Yes No Comparative Toxicogenomics Database:8795, Ensembl:ENSG00000120889, GenAtlas:TNFRSF10B, GeneCard:TNFRSF10B, HGNC:HGNC:11905, HumanCyc Gene:HS04445, ModBase:O14763, NCBI Gene:8795, OMIM:275355, OMIM:603612, RefSeq DNA:NG_012145, RefSeq DNA:NT_167187, RefSeq Protein:NP_003833, RefSeq Protein:NP_671716, RefSeq RNA:NM_003842, RefSeq RNA:NM_147187, RefSeq RNA:NR_027140, UCSC Genome Browser:NM_003842, UniProtKB:O14763, UniProtKB:Q7Z2I8 No chr8 22877646 22926700 23020133 23069187 +PA36599 8794 HGNC:11906 ENSG00000173535 TNF receptor superfamily member 10c TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain CD263, DcR1, LIT, TRAILR3, TRID Yes No Comparative Toxicogenomics Database:8794, Ensembl:ENSG00000173535, GenAtlas:TNFRSF10C, GeneCard:TNFRSF10C, HGNC:HGNC:11906, HumanCyc Gene:HS10684, ModBase:O14798, NCBI Gene:8794, OMIM:603613, RefSeq DNA:NT_167187, RefSeq Protein:NP_003832, RefSeq RNA:NM_003841, UCSC Genome Browser:NM_003841, UniProtKB:O14798 No chr8 22960327 22974950 23102814 23117437 +PA36600 8793 HGNC:11907 ENSG00000173530 TNF receptor superfamily member 10d TNFRSF10D tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain CD264, DcR2, TRAILR4, TRUNDD Yes No Comparative Toxicogenomics Database:8793, Ensembl:ENSG00000173530, GenAtlas:TNFRSF10D, GeneCard:TNFRSF10D, HGNC:HGNC:11907, HumanCyc Gene:HS10682, ModBase:Q9UBN6, NCBI Gene:8793, OMIM:603614, RefSeq DNA:NT_167187, RefSeq Protein:NP_003831, RefSeq RNA:NM_003840, UCSC Genome Browser:NM_003840, UniProtKB:Q9UBN6 No chr8 22993101 23021543 23135588 23164030 +PA36601 8792 HGNC:11908 ENSG00000141655 TNF receptor superfamily member 11a TNFRSF11A """TRANCE receptor"", ""familial expansile osteolysis"", ""osteoclast differentiation factor receptor"", ""receptor activator of nuclear factor kappa B"", ""tumor necrosis factor receptor superfamily, member 11a, NFKB activator""" CD265, FEO, LOH18CR1, ODFR, PDB2, RANK, TRANCE-R Yes Yes Comparative Toxicogenomics Database:8792, Ensembl:ENSG00000141655, GenAtlas:TNFRSF11A, GeneCard:TNFRSF11A, HGNC:HGNC:11908, HumanCyc Gene:HS06860, ModBase:Q9Y6Q6, NCBI Gene:8792, OMIM:174810, OMIM:259500, OMIM:602080, OMIM:603499, OMIM:612301, RefSeq DNA:NG_008098, RefSeq DNA:NT_025028, RefSeq Protein:NP_003830, RefSeq RNA:NM_003839, UCSC Genome Browser:NM_003839, UniProtKB:Q9Y6Q6 No chr18 59992520 60054943 62325287 62388096 +PA36602 4982 HGNC:11909 ENSG00000164761 TNF receptor superfamily member 11b TNFRSF11B """osteoclastogenesis inhibitory factor"", ""tumor necrosis factor receptor superfamily, member 11b""" OCIF, OPG, TR1 Yes Yes Comparative Toxicogenomics Database:4982, Ensembl:ENSG00000164761, GenAtlas:TNFRSF11B, GeneCard:TNFRSF11B, HGNC:HGNC:11909, HumanCyc Gene:HS09133, ModBase:O00300, NCBI Gene:4982, OMIM:239000, OMIM:602643, RefSeq DNA:NG_012202, RefSeq DNA:NT_008046, RefSeq Protein:NP_002537, RefSeq RNA:NM_002546, UCSC Genome Browser:NM_002546, UniProtKB:O00300 No chr8 119935796 119964383 118923557 118952144 +PA134976874 51330 HGNC:18152 ENSG00000006327 TNF receptor superfamily member 12A TNFRSF12A tumor necrosis factor receptor superfamily, member 12A CD266, FN14, TweakR Yes No Comparative Toxicogenomics Database:51330, Ensembl:ENSG00000006327, GeneCard:TNFRSF12A, HGNC:HGNC:18152, HumanCyc Gene:HS00175, ModBase:Q9NP84, NCBI Gene:51330, OMIM:605914, RefSeq DNA:NT_010393, RefSeq Protein:NP_057723, RefSeq RNA:NM_016639, UniProtKB:Q9NP84 No chr16 3070313 3072384 3020312 3022383 +PA38509 23495 HGNC:18153 ENSG00000240505 TNF receptor superfamily member 13B TNFRSF13B tumor necrosis factor receptor superfamily, member 13B CD267, IGAD2, TACI Yes No Comparative Toxicogenomics Database:23495, Ensembl:ENSG00000240505, GenAtlas:TNFRSF13B, GeneCard:TNFRSF13B, HGNC:HGNC:18153, HumanCyc Gene:HS03117, ModBase:O14836, NCBI Gene:23495, OMIM:240500, OMIM:604907, OMIM:609529, RefSeq DNA:NG_007281, RefSeq DNA:NT_010718, RefSeq Protein:NP_036584, RefSeq RNA:NM_012452, UCSC Genome Browser:NM_012452, UniProtKB:O14836, UniProtKB:Q4ACX1 No chr17 16842398 16875432 16939084 16972088 +PA38466 115650 HGNC:17755 ENSG00000159958 TNF receptor superfamily member 13C TNFRSF13C tumor necrosis factor receptor superfamily, member 13C BAFFR, CD268 Yes No Ensembl:ENSG00000159958, GenAtlas:TNFRSF13C, GeneCard:TNFRSF13C, HGNC:HGNC:17755, HumanCyc Gene:HS08436, NCBI Gene:115650, OMIM:606269, RefSeq DNA:NG_007579, RefSeq DNA:NT_011520, RefSeq Protein:NP_443177, RefSeq RNA:NM_052945, UCSC Genome Browser:NM_052945, UniProtKB:Q5H8V1, UniProtKB:Q96RJ3 No chr22 42321036 42322821 41925032 41926817 +PA36605 8764 HGNC:11912 ENSG00000157873 TNF receptor superfamily member 14 TNFRSF14 """herpesvirus entry mediator"", ""tumor necrosis factor receptor superfamily, member 14""" ATAR, CD270, HVEA, HVEM, LIGHTR, TR2 Yes No Comparative Toxicogenomics Database:8764, Ensembl:ENSG00000157873, GenAtlas:TNFRSF14, GeneCard:TNFRSF14, HGNC:HGNC:11912, HumanCyc Gene:HS08248, ModBase:Q92956, NCBI Gene:8764, OMIM:602746, RefSeq DNA:NT_004350, RefSeq Protein:NP_003811, RefSeq RNA:NM_003820, UCSC Genome Browser:NM_003820, UniProtKB:Q92956 No chr1 2487291 2495268 2555767 2565622 +PA36606 608 HGNC:11913 ENSG00000048462 TNF receptor superfamily member 17 TNFRSF17 tumor necrosis factor receptor superfamily, member 17 BCM, BCMA, CD269, TNFRSF13A Yes No Comparative Toxicogenomics Database:608, Ensembl:ENSG00000048462, GenAtlas:TNFRSF17, GeneCard:TNFRSF17, HGNC:HGNC:11913, HumanCyc Gene:HS00603, NCBI Gene:608, OMIM:109545, RefSeq DNA:NT_010393, RefSeq Protein:NP_001183, RefSeq RNA:NM_001192, UCSC Genome Browser:NM_001192, UniProtKB:Q02223 No chr16 12058964 12061925 11965107 11968068 +PA36607 8784 HGNC:11914 ENSG00000186891 TNF receptor superfamily member 18 TNFRSF18 tumor necrosis factor receptor superfamily, member 18 AITR, CD357, GITR Yes No Ensembl:ENSG00000186891, GenAtlas:TNFRSF18, GeneCard:TNFRSF18, HGNC:HGNC:11914, ModBase:Q9Y5U5, NCBI Gene:8784, OMIM:603905, RefSeq DNA:NT_004350, RefSeq Protein:NP_004186, RefSeq Protein:NP_683699, RefSeq Protein:NP_683700, RefSeq RNA:NM_004195, RefSeq RNA:NM_148901, RefSeq RNA:NM_148902, UCSC Genome Browser:NM_004195, UniProtKB:B1AME3, UniProtKB:Q5U0I4, UniProtKB:Q9Y5U5 No chr1 1138888 1142163 1203508 1207900 +PA36608 55504 HGNC:11915 ENSG00000127863 TNF receptor superfamily member 19 TNFRSF19 """toxicity and JNK inducer"", ""tumor necrosis factor receptor superfamily, member 19""" TAJ, TAJ-alpha, TRADE, TROY Yes No Comparative Toxicogenomics Database:55504, Ensembl:ENSG00000127863, GenAtlas:TNFRSF19, GeneCard:TNFRSF19, HGNC:HGNC:11915, HumanCyc Gene:HS05130, ModBase:Q9NS68, NCBI Gene:55504, OMIM:606122, RefSeq DNA:NT_024524, RefSeq Protein:NP_001191387, RefSeq Protein:NP_001191388, RefSeq Protein:NP_061117, RefSeq Protein:NP_683760, RefSeq RNA:NM_001204458, RefSeq RNA:NM_001204459, RefSeq RNA:NM_018647, RefSeq RNA:NM_148957, UCSC Genome Browser:NM_018647, UniProtKB:Q9NS68 No chr13 24144509 24250244 23570248 23676105 +PA36609 7132 HGNC:11916 ENSG00000067182 TNF receptor superfamily member 1A TNFRSF1A tumor necrosis factor receptor superfamily, member 1A CD120a, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR1, TNFR60 Yes Yes Comparative Toxicogenomics Database:7132, Ensembl:ENSG00000067182, GenAtlas:TNFRSF1A, GeneCard:TNFRSF1A, HGNC:HGNC:11916, HumanCyc Gene:HS00902, ModBase:P19438, NCBI Gene:7132, OMIM:142680, OMIM:191190, RefSeq DNA:NG_007506, RefSeq DNA:NT_009759, RefSeq Protein:NP_001056, RefSeq RNA:NM_001065, UCSC Genome Browser:NM_001065, UniProtKB:P19438 No chr12 6437923 6451283 6328757 6342117 +PA36610 7133 HGNC:11917 ENSG00000028137 TNF receptor superfamily member 1B TNFRSF1B tumor necrosis factor receptor superfamily, member 1B CD120b, TNF-R-II, TNF-R75, TNFBR, TNFR2, TNFR80, p75 Yes Yes Comparative Toxicogenomics Database:7133, Ensembl:ENSG00000028137, GenAtlas:TNFRSF1B, GeneCard:TNFRSF1B, HGNC:HGNC:11917, HumanCyc Gene:HS00462, ModBase:P20333, NCBI Gene:7133, OMIM:191191, RefSeq DNA:NT_021937, RefSeq Protein:NP_001057, RefSeq RNA:NM_001066, UCSC Genome Browser:NM_001066, UniProtKB:P20333 No chr1 12227044 12269279 12166948 12209222 +PA37775 27242 HGNC:13469 ENSG00000146072 TNF receptor superfamily member 21 TNFRSF21 """death receptor 6"", ""tumor necrosis factor receptor superfamily, member 21""" CD358, DR6 Yes No Comparative Toxicogenomics Database:27242, Ensembl:ENSG00000146072, GenAtlas:TNFRSF21, GeneCard:TNFRSF21, HGNC:HGNC:13469, HumanCyc Gene:HS07321, ModBase:O75509, NCBI Gene:27242, OMIM:605732, RefSeq DNA:NT_007592, RefSeq Protein:NP_055267, RefSeq RNA:NM_014452, UCSC Genome Browser:NM_014452, UniProtKB:B3KMB6, UniProtKB:O75509 No chr6 47199263 47277683 47231527 47309976 +PA36603 8718 HGNC:11910 ENSG00000215788 TNF receptor superfamily member 25 TNFRSF25 tumor necrosis factor receptor superfamily, member 25 APO-3, DDR3, DR3, LARD, TNFRSF12, TR3, TRAMP, WSL-1, WSL-LR Yes No Comparative Toxicogenomics Database:8718, Ensembl:ENSG00000215788, GeneCard:TNFRSF25, HGNC:HGNC:11910, HumanCyc Gene:HS10365, ModBase:Q99722, NCBI Gene:8718, OMIM:603366, RefSeq DNA:NT_021937, RefSeq Protein:NP_001034753, RefSeq Protein:NP_003781, RefSeq Protein:NP_683866, RefSeq Protein:NP_683867, RefSeq Protein:NP_683868, RefSeq Protein:NP_683871, RefSeq RNA:NM_001039664, RefSeq RNA:NM_003790, RefSeq RNA:NM_148965, RefSeq RNA:NM_148966, RefSeq RNA:NM_148967, RefSeq RNA:NM_148970, UCSC Genome Browser:NM_003790, UniProtKB:Q93038 No chr1 6520787 6527432 6461151 6466195 +PA36611 7293 HGNC:11918 ENSG00000186827 TNF receptor superfamily member 4 TNFRSF4 tumor necrosis factor receptor superfamily, member 4 ACT35, CD134, OX40, TXGP1L Yes No Comparative Toxicogenomics Database:7293, Ensembl:ENSG00000186827, GenAtlas:TNFRSF4, GeneCard:TNFRSF4, HGNC:HGNC:11918, ModBase:P43489, NCBI Gene:7293, OMIM:600315, RefSeq DNA:NT_004350, RefSeq Protein:NP_003318, RefSeq RNA:NM_003327, UCSC Genome Browser:NM_003327, UniProtKB:P43489 No chr1 1146706 1149703 1211326 1216812 +PA36614 8771 HGNC:11921 ENSG00000243509 TNF receptor superfamily member 6b TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy DCR3, DcR3, M68, TR6 Yes No Ensembl:ENSG00000243509, GenAtlas:TNFRSF6B, GeneCard:TNFRSF6B, HGNC:HGNC:11921, HumanCyc Gene:HS00447, ModBase:O95407, NCBI Gene:8771, OMIM:603361, RefSeq DNA:NT_011333, RefSeq Protein:NP_003814, RefSeq Protein:NP_116563, RefSeq RNA:NM_003823, RefSeq RNA:NM_032945, UCSC Genome Browser:NM_003823, UniProtKB:O95407 No chr20 62328004 62330051 63696651 63698698 +PA36616 943 HGNC:11923 ENSG00000120949 TNF receptor superfamily member 8 TNFRSF8 tumor necrosis factor receptor superfamily, member 8 CD30, CD30 (previous symbol), D1S166E, KI-1 Yes No Comparative Toxicogenomics Database:943, Ensembl:ENSG00000120949, GenAtlas:TNFRSF8, GeneCard:TNFRSF8, HGNC:HGNC:11923, HumanCyc Gene:HS04456, ModBase:P28908, NCBI Gene:943, OMIM:153243, RefSeq DNA:NT_021937, RefSeq Protein:NP_001234, RefSeq Protein:NP_694421, RefSeq RNA:NM_001243, RefSeq RNA:NM_152942, UCSC Genome Browser:NM_001243, UniProtKB:P28908 No chr1 12123434 12204264 12063318 12144213 +PA36617 3604 HGNC:11924 ENSG00000049249 TNF receptor superfamily member 9 TNFRSF9 tumor necrosis factor receptor superfamily, member 9 4-1BB, CD137, ILA Yes No Comparative Toxicogenomics Database:3604, Ensembl:ENSG00000049249, GenAtlas:TNFRSF9, GeneCard:TNFRSF9, HGNC:HGNC:11924, HumanCyc Gene:HS00618, ModBase:Q07011, NCBI Gene:3604, OMIM:602250, RefSeq DNA:NT_021937, RefSeq Protein:NP_001552, RefSeq RNA:NM_001561, UCSC Genome Browser:NM_001561, UniProtKB:Q07011 No chr1 7975931 8003225 7915871 7943165 +PA36618 8743 HGNC:11925 ENSG00000121858 TNF superfamily member 10 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 Apo-2L, CD253, TANCR, TL2, TRAIL Yes Yes Comparative Toxicogenomics Database:8743, Ensembl:ENSG00000121858, GenAtlas:TNFSF10, GeneCard:TNFSF10, HGNC:HGNC:11925, HumanCyc Gene:HS04526, ModBase:P50591, NCBI Gene:8743, OMIM:603598, RefSeq DNA:NT_005612, RefSeq Protein:NP_001177871, RefSeq Protein:NP_001177872, RefSeq Protein:NP_003801, RefSeq RNA:NM_001190942, RefSeq RNA:NM_001190943, RefSeq RNA:NM_003810, RefSeq RNA:NR_033994, UCSC Genome Browser:NM_003810, UniProtKB:P50591, UniProtKB:Q6IBA9 No chr3 172223298 172241297 172505508 172523507 +PA36619 8600 HGNC:11926 ENSG00000120659 TNF superfamily member 11 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 CD254, ODF, OPGL, RANKL, TRANCE Yes Yes Comparative Toxicogenomics Database:8600, Ensembl:ENSG00000120659, GenAtlas:TNFSF11, GeneCard:TNFSF11, HGNC:HGNC:11926, HumanCyc Gene:HS04415, ModBase:O14788, NCBI Gene:8600, OMIM:259710, OMIM:602642, RefSeq DNA:NG_008990, RefSeq DNA:NT_024524, RefSeq Protein:NP_003692, RefSeq Protein:NP_143026, RefSeq RNA:NM_003701, RefSeq RNA:NM_033012, UCSC Genome Browser:NM_003701, UniProtKB:O14788, UniProtKB:Q54A98, UniProtKB:Q5T9Y4 No chr13 43136872 43182149 42562736 42608013 +PA36620 8742 HGNC:11927 ENSG00000239697 TNF superfamily member 12 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 APO3L, DR3LG, TWEAK Yes No Comparative Toxicogenomics Database:8742, Ensembl:ENSG00000239697, GenAtlas:TNFSF12, GeneCard:TNFSF12, HGNC:HGNC:11927, ModBase:O43508, NCBI Gene:8742, OMIM:602695, RefSeq DNA:NT_010718, RefSeq Protein:NP_003800, RefSeq RNA:NM_003809, RefSeq RNA:NR_037146, UCSC Genome Browser:NM_003809, UniProtKB:O43508, UniProtKB:Q4ACW9 No chr17 7452375 7461207 7549058 7557890 +PA162406662 407977 HGNC:33537 ENSG00000248871 TNFSF12-TNFSF13 readthrough TNFSF12-TNFSF13 TWE-PRIL Yes No Ensembl:ENSG00000248871, GeneCard:TNFSF12-TNFSF13, HGNC:HGNC:33537, NCBI Gene:407977, RefSeq DNA:NT_010718, RefSeq Protein:NP_742086, RefSeq RNA:NM_172089, UniProtKB:Q8IZK7 No chr17 7452375 7464925 7549058 7561608 +PA36621 8741 HGNC:11928 ENSG00000161955 TNF superfamily member 13 TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 APRIL, CD256 Yes No Comparative Toxicogenomics Database:8741, Ensembl:ENSG00000161955, GenAtlas:TNFSF13, GeneCard:TNFSF13, HGNC:HGNC:11928, HumanCyc Gene:HS08626, HumanCyc Gene:HS08627, ModBase:O75888, NCBI Gene:8741, OMIM:604472, RefSeq DNA:NT_010718, RefSeq Protein:NP_001185551, RefSeq Protein:NP_001185552, RefSeq Protein:NP_001185553, RefSeq Protein:NP_003799, RefSeq Protein:NP_742084, RefSeq Protein:NP_742085, RefSeq RNA:NM_001198622, RefSeq RNA:NM_001198623, RefSeq RNA:NM_001198624, RefSeq RNA:NM_003808, RefSeq RNA:NM_172087, RefSeq RNA:NM_172088, UCSC Genome Browser:NM_003808, UniProtKB:B3KR02, UniProtKB:O75888, UniProtKB:Q541E1 No chr17 7461609 7464925 7558292 7561608 +PA434 10673 HGNC:11929 ENSG00000102524 TNF superfamily member 13b TNFSF13B """B-cell-activating factor"", ""B-lymphocyte stimulator"", ""TNF and ApoL-related leukocyte expressed ligand 1"", ""TNF homolog that activates apoptosis"", ""tumor necrosis factor (ligand) superfamily, member 13b""" BAFF, BLYS, CD257, TALL-1, TALL1, THANK, TNFSF20 Yes Yes Comparative Toxicogenomics Database:10673, Ensembl:ENSG00000102524, GenAtlas:TNFSF13B, GeneCard:TNFSF13B, HGNC:HGNC:11929, HumanCyc Gene:HS02393, ModBase:Q9Y275, NCBI Gene:10673, OMIM:603969, RefSeq DNA:NT_009952, RefSeq Protein:NP_001139117, RefSeq Protein:NP_006564, RefSeq RNA:NM_001145645, RefSeq RNA:NM_006573, UCSC Genome Browser:NM_006573, UniProtKB:Q6FHD6, UniProtKB:Q7Z5J2, UniProtKB:Q9Y275 No chr13 108921875 108960832 108268240 108308484 +PA36622 8740 HGNC:11930 ENSG00000125735 TNF superfamily member 14 TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 CD258, HVEM-L, LIGHT, LTg Yes No Comparative Toxicogenomics Database:8740, Ensembl:ENSG00000125735, GenAtlas:TNFSF14, GeneCard:TNFSF14, HGNC:HGNC:11930, HumanCyc Gene:HS04921, ModBase:O43557, NCBI Gene:8740, OMIM:604520, RefSeq DNA:NT_011255, RefSeq Protein:NP_003798, RefSeq Protein:NP_742011, RefSeq RNA:NM_003807, RefSeq RNA:NM_172014, UCSC Genome Browser:NM_003807, UniProtKB:C9J5H4, UniProtKB:O43557 No chr19 6661264 6670599 6658126 6670595 +PA36623 9966 HGNC:11931 ENSG00000181634 TNF superfamily member 15 TNFSF15 """TNF ligand-related molecule 1"", ""TNF superfamily ligand TL1A"", ""tumor necrosis factor (ligand) superfamily, member 15"", ""vascular endothelial cell growth inhibitor"", ""vascular endothelial growth inhibitor-192A""" MGC129934, MGC129935, TL1, TL1A, VEGI, VEGI192A Yes No Comparative Toxicogenomics Database:9966, Ensembl:ENSG00000181634, GenAtlas:TNFSF15, GeneCard:TNFSF15, HGNC:HGNC:11931, HumanCyc Gene:HS11639, ModBase:O95150, NCBI Gene:9966, OMIM:604052, RefSeq DNA:NG_011488, RefSeq DNA:NT_008470, RefSeq Protein:NP_001191273, RefSeq Protein:NP_005109, RefSeq RNA:NM_001204344, RefSeq RNA:NM_005118, UCSC Genome Browser:NM_005118, UniProtKB:O95150 No chr9 117546915 117568408 114784635 114806128 +PA36624 8995 HGNC:11932 ENSG00000120337 TNF superfamily member 18 TNFSF18 tumor necrosis factor (ligand) superfamily, member 18 AITRL, TL6, hGITRL Yes No Ensembl:ENSG00000120337, GenAtlas:TNFSF18, GeneCard:TNFSF18, HGNC:HGNC:11932, HumanCyc Gene:HS04397, ModBase:Q9UNG2, NCBI Gene:8995, OMIM:603898, RefSeq DNA:NT_004487, RefSeq Protein:NP_005083, RefSeq RNA:NM_005092, UCSC Genome Browser:NM_005092, UniProtKB:A9IQG8, UniProtKB:Q6ISV1, UniProtKB:Q9UNG2 No chr1 173010360 173020103 173041220 173050963 +PA36625 7292 HGNC:11934 ENSG00000117586 TNF superfamily member 4 TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 CD252, OX-40L, TXGP1, gp34 Yes No Comparative Toxicogenomics Database:7292, Ensembl:ENSG00000117586, GenAtlas:TNFSF4, GeneCard:TNFSF4, HGNC:HGNC:11934, HumanCyc Gene:HS04151, ModBase:P23510, NCBI Gene:7292, OMIM:603594, OMIM:608446, RefSeq DNA:NG_011477, RefSeq DNA:NT_004487, RefSeq Protein:NP_003317, RefSeq RNA:NM_003326, UCSC Genome Browser:NM_003326, UniProtKB:P23510 No chr1 173152870 173176471 173183729 173462208 +PA36628 944 HGNC:11938 ENSG00000106952 TNF superfamily member 8 TNFSF8 tumor necrosis factor (ligand) superfamily, member 8 CD153, CD30LG Yes No Comparative Toxicogenomics Database:944, Ensembl:ENSG00000106952, GenAtlas:TNFSF8, GeneCard:TNFSF8, HGNC:HGNC:11938, HumanCyc Gene:HS02962, ModBase:P32971, NCBI Gene:944, OMIM:603875, RefSeq DNA:NT_008470, RefSeq Protein:NP_001235, RefSeq RNA:NM_001244, UCSC Genome Browser:NM_001244, UniProtKB:P32971, UniProtKB:Q52M88 No chr9 117655623 117692875 114893343 114930595 +PA36629 8744 HGNC:11939 ENSG00000125657 TNF superfamily member 9 TNFSF9 """CD137 ligand"", ""homolog of mouse 4-1BB-L"", ""receptor 4-1BB ligand"", ""tumor necrosis factor (ligand) superfamily, member 9""" 4-1BB-L, 4-1BBL, CD137L Yes No Comparative Toxicogenomics Database:8744, Ensembl:ENSG00000125657, GenAtlas:TNFSF9, GeneCard:TNFSF9, HGNC:HGNC:11939, HumanCyc Gene:HS04912, ModBase:P41273, NCBI Gene:8744, OMIM:606182, RefSeq DNA:NT_011255, RefSeq Protein:NP_003802, RefSeq RNA:NM_003811, UCSC Genome Browser:NM_003811, UniProtKB:P41273 No chr19 6531010 6535939 6530999 6535928 +PA134893180 23043 HGNC:30765 ENSG00000154310 TRAF2 and NCK interacting kinase TNIK KIAA0551 Yes Yes Comparative Toxicogenomics Database:23043, Ensembl:ENSG00000154310, GeneCard:TNIK, HGNC:HGNC:30765, ModBase:Q9UKE3, NCBI Gene:23043, OMIM:610005, RefSeq DNA:NT_005612, RefSeq Protein:NP_001155032, RefSeq Protein:NP_001155033, RefSeq Protein:NP_001155034, RefSeq Protein:NP_001155035, RefSeq Protein:NP_001155036, RefSeq Protein:NP_001155037, RefSeq Protein:NP_001155038, RefSeq Protein:NP_055843, RefSeq RNA:NM_001161560, RefSeq RNA:NM_001161561, RefSeq RNA:NM_001161562, RefSeq RNA:NM_001161563, RefSeq RNA:NM_001161564, RefSeq RNA:NM_001161565, RefSeq RNA:NM_001161566, RefSeq RNA:NM_015028, RefSeq RNA:NR_027767, UniProtKB:Q9UKE5 No chr3 170780292 171178197 171058414 171460408 +PA128394573 10318 HGNC:16903 ENSG00000145901 TNFAIP3 interacting protein 1 TNIP1 Nef-associated factor 1 SNP, virion-associated nuclear-shuttling protein ABIN-1, KIAA0113, NAF1, VAN Yes No Comparative Toxicogenomics Database:10318, Ensembl:ENSG00000145901, GeneCard:TNIP1, HGNC:HGNC:16903, HumanCyc Gene:HS07299, ModBase:Q15025, NCBI Gene:10318, OMIM:607714, RefSeq DNA:NT_029289, RefSeq Protein:NP_006049, RefSeq RNA:NM_006058, UCSC Genome Browser:NM_006058, UniProtKB:A4F1W8, UniProtKB:Q15025 No chr5 150409504 150467221 151029943 151087660 +PA134957006 79155 HGNC:19118 ENSG00000168884 TNFAIP3 interacting protein 2 TNIP2 ABIN-2, FLIP1, KLIP, MGC4289 Yes No Comparative Toxicogenomics Database:79155, Ensembl:ENSG00000168884, GeneCard:TNIP2, HGNC:HGNC:19118, HumanCyc Gene:HS15720, ModBase:Q8NFZ5, NCBI Gene:79155, OMIM:610669, RefSeq DNA:NT_006051, RefSeq Protein:NP_001154999, RefSeq Protein:NP_077285, RefSeq RNA:NM_001161527, RefSeq RNA:NM_024309, UniProtKB:Q8NFZ5 No chr4 2743387 2758103 2741660 2756376 +PA134934429 79931 HGNC:19315 ENSG00000050730 TNFAIP3 interacting protein 3 TNIP3 ABIN-3, FLJ21162, LIND Yes Yes Ensembl:ENSG00000050730, GeneCard:TNIP3, HGNC:HGNC:19315, HumanCyc Gene:HS12123, ModBase:Q96KP6, NCBI Gene:79931, OMIM:608019, RefSeq DNA:NT_016354, RefSeq Protein:NP_001122315, RefSeq Protein:NP_079149, RefSeq RNA:NM_001128843, RefSeq RNA:NM_024873, UniProtKB:Q96KP6 No chr4 122052563 122148624 121127161 121227609 +PA36630 8711 HGNC:11940 ENSG00000174292 tyrosine kinase non receptor 1 TNK1 tyrosine kinase, non-receptor, 1 KOS1 Yes No Ensembl:ENSG00000174292, GenAtlas:TNK1, GeneCard:TNK1, HGNC:HGNC:11940, HumanCyc Gene:HS10784, ModBase:Q13470, NCBI Gene:8711, OMIM:608076, RefSeq DNA:NT_010718, RefSeq Protein:NP_003976, RefSeq RNA:NM_003985, UCSC Genome Browser:NM_003985, UniProtKB:Q13470 No chr17 7284293 7293093 7380559 7389774 +PA134909759 10188 HGNC:19297 ENSG00000061938 tyrosine kinase non receptor 2 TNK2 """activated Cdc42-associated kinase 1"", ""tyrosine kinase, non-receptor, 2""" ACK, ACK1, p21cdc42Hs Yes No Comparative Toxicogenomics Database:10188, Ensembl:ENSG00000061938, GeneCard:TNK2, HGNC:HGNC:19297, HumanCyc Gene:HS00763, ModBase:Q07912, NCBI Gene:10188, OMIM:606994, RefSeq DNA:NT_029928, RefSeq Protein:NP_001010938, RefSeq Protein:NP_005772, RefSeq RNA:NM_001010938, RefSeq RNA:NM_005781, UniProtKB:B3KXJ4, UniProtKB:Q07912 No chr3 195590235 195635880 195863364 195909009 +PA36631 8658 HGNC:11941 ENSG00000173273 tankyrase TNKS """TRF1-interacting ankyrin-related ADP-ribose polymerase 1"", ""tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase""" ARTD5, PARP-5a, PARP5A, TIN1, TINF1, TNKS1, pART5 Yes No Ensembl:ENSG00000173273, GenAtlas:TNKS, GeneCard:TNKS, HGNC:HGNC:11941, HumanCyc Gene:HS10642, ModBase:O95271, NCBI Gene:8658, OMIM:603303, RefSeq DNA:NT_077531, RefSeq Protein:NP_003738, RefSeq RNA:NM_003747, UCSC Genome Browser:NM_003747, UniProtKB:O95271, UniProtKB:Q4G0F2 No chr8 9412756 9639856 9555229 9782346 +PA38789 85456 HGNC:19081 ENSG00000149115 tankyrase 1 binding protein 1 TNKS1BP1 tankyrase 1 binding protein 1, 182kDa CNOT12, FLJ45975, KIAA1741, TAB182 Yes No Comparative Toxicogenomics Database:85456, Ensembl:ENSG00000149115, GenAtlas:TNKS1BP1, GeneCard:TNKS1BP1, HGNC:HGNC:19081, HumanCyc Gene:HS07584, NCBI Gene:85456, OMIM:607104, RefSeq DNA:NT_167190, RefSeq Protein:NP_203754, RefSeq RNA:NM_033396, UCSC Genome Browser:NM_033396, UniProtKB:Q9C0C2 No chr11 57067103 57092485 57299629 57324952 +PA38019 80351 HGNC:15677 ENSG00000107854 tankyrase 2 TNKS2 """TRF1-interacting ankyrin-related ADP-ribose polymerase 2"", ""tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2""" ARTD6, PARP-5b, PARP-5c, PARP5B, PARP5C, TANK2, TNKL, pART6 Yes No Comparative Toxicogenomics Database:80351, Ensembl:ENSG00000107854, GenAtlas:TNKS2, GeneCard:TNKS2, HGNC:HGNC:15677, HumanCyc Gene:HS03037, ModBase:Q9H2K2, NCBI Gene:80351, OMIM:607128, RefSeq DNA:NT_030059, RefSeq Protein:NP_079511, RefSeq RNA:NM_025235, UCSC Genome Browser:NM_025235, UniProtKB:Q9H2K2 No chr10 93558151 93625232 91798394 91865475 +PA134878561 64102 HGNC:17757 ENSG00000000005 tenomodulin TNMD BRICHOS domain containing 4 BRICD4, ChM1L, TEM, myodulin, tendin Yes No Comparative Toxicogenomics Database:64102, Ensembl:ENSG00000000005, GeneCard:TNMD, HGNC:HGNC:17757, HumanCyc Gene:HS00064, ModBase:Q9H2S6, NCBI Gene:64102, OMIM:300459, RefSeq DNA:NG_013266, RefSeq DNA:NT_011651, RefSeq Protein:NP_071427, RefSeq RNA:NM_022144, UniProtKB:Q9H2S6 No chrX 99839790 99855007 100584793 100599885 +PA134973710 63923 HGNC:22942 ENSG00000120332 tenascin N TNN tenascin W, tenascin-W TNW Yes No Comparative Toxicogenomics Database:63923, Ensembl:ENSG00000120332, GeneCard:TNN, HGNC:HGNC:22942, ModBase:Q9UQP3, NCBI Gene:63923, RefSeq DNA:NT_004487, RefSeq Protein:NP_071376, RefSeq RNA:NM_022093, UniProtKB:B3KXB6, UniProtKB:Q9UQP3 No chr1 175036994 175117202 175067858 175148066 +PA36632 7134 HGNC:11943 ENSG00000114854 troponin C1, slow skeletal and cardiac type TNNC1 troponin C type 1 (slow) TNNC Yes No Comparative Toxicogenomics Database:7134, Ensembl:ENSG00000114854, GenAtlas:TNNC1, GeneCard:TNNC1, HGNC:HGNC:11943, HumanCyc Gene:HS03809, ModBase:P63316, NCBI Gene:7134, OMIM:191040, OMIM:192600, OMIM:611879, OMIM:613243, RefSeq DNA:NG_008963, RefSeq DNA:NT_022517, RefSeq Protein:NP_003271, RefSeq RNA:NM_003280, UCSC Genome Browser:NM_003280, UniProtKB:P63316, UniProtKB:Q6FH91 No chr3 52485107 52488057 52451091 52454041 +PA36633 7125 HGNC:11944 ENSG00000101470 troponin C2, fast skeletal type TNNC2 troponin C type 2 (fast) CFAP85, FAP85 Yes No Comparative Toxicogenomics Database:7125, Ensembl:ENSG00000101470, GenAtlas:TNNC2, GeneCard:TNNC2, HGNC:HGNC:11944, HumanCyc Gene:HS02281, ModBase:P02585, NCBI Gene:7125, OMIM:191039, RefSeq DNA:NT_011362, RefSeq Protein:NP_003270, RefSeq RNA:NM_003279, UCSC Genome Browser:NM_003279, UniProtKB:P02585, UniProtKB:Q6FH92 No chr20 44451853 44455953 45823214 45833329 +PA36634 7135 HGNC:11945 ENSG00000159173 troponin I1, slow skeletal type TNNI1 troponin I type 1 (skeletal, slow) ssTnI Yes No Ensembl:ENSG00000159173, GenAtlas:TNNI1, GeneCard:TNNI1, HGNC:HGNC:11945, HumanCyc Gene:HS08364, ModBase:Q96DT9, NCBI Gene:7135, OMIM:191042, RefSeq DNA:NG_016649, RefSeq DNA:NT_004487, RefSeq Protein:NP_003272, RefSeq RNA:NM_003281, UCSC Genome Browser:NM_003281, UniProtKB:P19237 No chr1 201372895 201390874 201403767 201421746 +PA36635 7136 HGNC:11946 ENSG00000130598 troponin I2, fast skeletal type TNNI2 """troponin I fast twitch 2"", ""troponin I type 2 (skeletal, fast)"", ""troponin I, fast-twitch skeletal muscle isoform""" AMCD2B, DA2B, FSSV, fsTnI Yes No Comparative Toxicogenomics Database:7136, Ensembl:ENSG00000130598, GenAtlas:TNNI2, GeneCard:TNNI2, HGNC:HGNC:11946, HumanCyc Gene:HS05408, ModBase:P48788, NCBI Gene:7136, OMIM:191043, OMIM:601680, RefSeq DNA:NG_011621, RefSeq DNA:NT_009237, RefSeq Protein:NP_001139301, RefSeq Protein:NP_001139313, RefSeq Protein:NP_003273, RefSeq RNA:NM_001145829, RefSeq RNA:NM_001145841, RefSeq RNA:NM_003282, UCSC Genome Browser:NM_003282, UniProtKB:A6NIV8, UniProtKB:P48788 No chr11 1860233 1862910 1839003 1841680 +PA36636 7137 HGNC:11947 ENSG00000129991 troponin I3, cardiac type TNNI3 troponin I type 3 (cardiac) CMD2A, CMH7, TNNC1, cTNI Yes No Comparative Toxicogenomics Database:7137, Ensembl:ENSG00000129991, GenAtlas:TNNI3, GeneCard:TNNI3, HGNC:HGNC:11947, HumanCyc Gene:HS09598, ModBase:P19429, NCBI Gene:7137, OMIM:115210, OMIM:191044, OMIM:611880, OMIM:613286, RefSeq DNA:NG_007866, RefSeq DNA:NT_011109, RefSeq Protein:NP_000354, RefSeq RNA:NM_000363, UCSC Genome Browser:NM_000363, UniProtKB:P19429, UniProtKB:Q6FGX2 No chr19 55663135 55669100 55151767 55157732 +PA134976654 51086 HGNC:19661 ENSG00000116783 TNNI3 interacting kinase TNNI3K CARK Yes No Ensembl:ENSG00000116783, GeneCard:TNNI3K, HGNC:HGNC:19661, HumanCyc Gene:HS11335, ModBase:Q59H18, NCBI Gene:51086, RefSeq DNA:NT_032977, RefSeq Protein:NP_001106279, RefSeq Protein:NP_057062, RefSeq RNA:NM_001112808, RefSeq RNA:NM_015978, UniProtKB:Q59H18 No chr1 74701071 75010116 74235387 74544432 +PA36637 7138 HGNC:11948 ENSG00000105048 troponin T1, slow skeletal type TNNT1 """nemaline myopathy type 5"", ""slow skeletal muscle troponin T"", ""troponin T type 1 (skeletal, slow)"", ""troponin T1, skeletal, slow""" ANM, FLJ98147, MGC104241, NEM5, STNT, TNT, TNTS Yes No Comparative Toxicogenomics Database:7138, Ensembl:ENSG00000105048, GenAtlas:TNNT1, GeneCard:TNNT1, HGNC:HGNC:11948, HumanCyc Gene:HS02671, ModBase:P13805, NCBI Gene:7138, OMIM:191041, OMIM:605355, RefSeq DNA:NG_011829, RefSeq DNA:NT_011109, RefSeq Protein:NP_001119604, RefSeq Protein:NP_001119605, RefSeq Protein:NP_003274, RefSeq RNA:NM_001126132, RefSeq RNA:NM_001126133, RefSeq RNA:NM_003283, UCSC Genome Browser:NM_003283, UniProtKB:P13805 No chr19 55644161 55660752 55132698 55149354 +PA36638 7139 HGNC:11949 ENSG00000118194 troponin T2, cardiac type TNNT2 troponin T type 2 (cardiac) CMD1D, CMH2, CMPD2 Yes No Comparative Toxicogenomics Database:7139, Ensembl:ENSG00000118194, GenAtlas:TNNT2, GeneCard:TNNT2, HGNC:HGNC:11949, HumanCyc Gene:HS04199, NCBI Gene:7139, OMIM:115195, OMIM:191045, OMIM:601494, OMIM:612422, RefSeq DNA:NG_007556, RefSeq DNA:NT_004487, RefSeq Protein:NP_000355, RefSeq Protein:NP_001001430, RefSeq Protein:NP_001001431, RefSeq Protein:NP_001001432, RefSeq RNA:NM_000364, RefSeq RNA:NM_001001430, RefSeq RNA:NM_001001431, RefSeq RNA:NM_001001432, UCSC Genome Browser:NM_000364, UniProtKB:P45379, UniProtKB:Q7Z554, UniProtKB:Q9BUF6 No chr1 201328136 201346836 201359008 201377828 +PA36639 7140 HGNC:11950 ENSG00000130595 troponin T3, fast skeletal type TNNT3 """troponin T type 3 (skeletal, fast)"", ""troponin-T3, skeletal, fast""" AMCD2B, DA2B, DKFZp779M2348, FSSV Yes No Comparative Toxicogenomics Database:7140, Ensembl:ENSG00000130595, GenAtlas:TNNT3, GeneCard:TNNT3, HGNC:HGNC:11950, HumanCyc Gene:HS05407, NCBI Gene:7140, OMIM:600692, OMIM:601680, RefSeq DNA:NG_013085, RefSeq DNA:NT_009237, RefSeq Protein:NP_001036245, RefSeq Protein:NP_001036246, RefSeq Protein:NP_001036247, RefSeq Protein:NP_006748, RefSeq RNA:NM_001042780, RefSeq RNA:NM_001042781, RefSeq RNA:NM_001042782, RefSeq RNA:NM_006757, UCSC Genome Browser:NM_006757, UniProtKB:P45378 No chr11 1940799 1959936 1919551 1938706 +PA36640 7141 HGNC:11951 ENSG00000118245 transition protein 1 TNP1 spermatid nuclear transition protein 1, transition protein 1 (during histone to protamine replacement) Yes No Ensembl:ENSG00000118245, GenAtlas:TNP1, GeneCard:TNP1, HGNC:HGNC:11951, HumanCyc Gene:HS04204, NCBI Gene:7141, OMIM:190231, RefSeq DNA:NT_005403, RefSeq Protein:NP_003275, RefSeq RNA:NM_003284, UCSC Genome Browser:NM_003284, UniProtKB:P09430, UniProtKB:Q4ZG82 No chr2 217724181 217724782 216859458 216860059 +PA36641 7142 HGNC:11952 ENSG00000178279 transition protein 2 TNP2 transition protein 2 (during histone to protamine replacement) TP2 Yes No Comparative Toxicogenomics Database:7142, Ensembl:ENSG00000178279, GenAtlas:TNP2, GeneCard:TNP2, HGNC:HGNC:11952, HumanCyc Gene:HS11270, ModBase:Q05952, NCBI Gene:7142, OMIM:190232, RefSeq DNA:NT_010393, RefSeq Protein:NP_005416, RefSeq RNA:NM_005425, UCSC Genome Browser:NM_005425, UniProtKB:Q05952, UniProtKB:Q4VB56 No chr16 11361714 11363160 11267857 11269303 +PA30192 3842 HGNC:6401 ENSG00000083312 transportin 1 TNPO1 importin 2 IPO2, KPNB2, MIP, MIP1, TRN Yes No Comparative Toxicogenomics Database:3842, Ensembl:ENSG00000083312, GenAtlas:TNPO1, GeneCard:TNPO1, HGNC:HGNC:6401, HumanCyc Gene:HS01438, ModBase:Q92973, NCBI Gene:3842, OMIM:602901, RefSeq DNA:NT_006713, RefSeq Protein:NP_002261, RefSeq Protein:NP_694858, RefSeq RNA:NM_002270, RefSeq RNA:NM_153188, UCSC Genome Browser:NM_002270, UniProtKB:Q92973 No chr5 72112418 72210215 72816591 72914388 +PA134921349 30000 HGNC:19998 ENSG00000105576 transportin 2 TNPO2 importin 3, karyopherin beta 2b FLJ12155, IPO3, KPNB2B, TRN2 Yes No Ensembl:ENSG00000105576, GeneCard:TNPO2, HGNC:HGNC:19998, HumanCyc Gene:HS02765, ModBase:O14787, NCBI Gene:30000, OMIM:603002, RefSeq DNA:NT_011295, RefSeq Protein:NP_001129667, RefSeq Protein:NP_001129668, RefSeq Protein:NP_038461, RefSeq RNA:NM_001136195, RefSeq RNA:NM_001136196, RefSeq RNA:NM_013433, UniProtKB:O14787, UniProtKB:Q05D48, UniProtKB:Q4LE60, UniProtKB:Q6IN77 No chr19 12810008 12834838 12699194 12723996 +PA134888159 23534 HGNC:17103 ENSG00000064419 transportin 3 TNPO3 importin 12 IPO12, LGMD1F, MTR10A, TRN-SR, TRN-SR2 Yes No Comparative Toxicogenomics Database:23534, Ensembl:ENSG00000064419, GeneCard:TNPO3, HGNC:HGNC:17103, HumanCyc Gene:HS00804, ModBase:Q9Y5L0, NCBI Gene:23534, OMIM:610032, RefSeq DNA:NG_023428, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001177957, RefSeq Protein:NP_036602, RefSeq RNA:NM_001191028, RefSeq RNA:NM_012470, RefSeq RNA:NR_034053, UniProtKB:B3KMX1, UniProtKB:Q9Y5L0 No chr7 128594234 128695227 128954180 129055173 +PA36642 7143 HGNC:11953 ENSG00000116147 tenascin R TNR janusin, restrictin Yes No Comparative Toxicogenomics Database:7143, Ensembl:ENSG00000116147, GenAtlas:TNR, GeneCard:TNR, HGNC:HGNC:11953, HumanCyc Gene:HS03988, ModBase:Q92752, NCBI Gene:7143, OMIM:601995, RefSeq DNA:NT_004487, RefSeq Protein:NP_003276, RefSeq RNA:NM_003285, UCSC Genome Browser:NM_003285, UniProtKB:A1L306, UniProtKB:Q92752 No chr1 175291935 175712752 175320781 175743702 +PA36648 27321 HGNC:11961 trinucleotide repeat containing 17 TNRC17 CAGL234 Yes No GenAtlas:TNRC17, GeneCard:TNRC17, HGNC:HGNC:11961, NCBI Gene:27321 No chr2 +PA36649 84629 HGNC:11962 ENSG00000182095 trinucleotide repeat containing 18 TNRC18 CAGL79, KIAA1856, TNRC18A Yes No Ensembl:ENSG00000182095, GenAtlas:TNRC18, GeneCard:TNRC18, HGNC:HGNC:11962, NCBI Gene:84629, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001073964, RefSeq RNA:NM_001080495, UniProtKB:A3KMH2, UniProtKB:O15417 No chr7 5346421 5463177 5306790 5426043 +PA36656 27327 HGNC:11969 ENSG00000090905 trinucleotide repeat containing adaptor 6A TNRC6A trinucleotide repeat containing 6A CAGH26, GW182, KIAA1460, TNRC6 Yes Yes Comparative Toxicogenomics Database:27327, Ensembl:ENSG00000090905, GenAtlas:TNRC6A, GeneCard:TNRC6A, HGNC:HGNC:11969, HumanCyc Gene:HS01709, ModBase:Q9P268, NCBI Gene:27327, OMIM:610739, RefSeq DNA:NT_010393, RefSeq Protein:NP_055309, RefSeq RNA:NM_014494, UCSC Genome Browser:NM_014494, UniProtKB:Q8NDV7 No chr16 24741028 24837548 24610260 24826227 +PA134992981 23112 HGNC:29190 ENSG00000100354 trinucleotide repeat containing adaptor 6B TNRC6B trinucleotide repeat containing 6B KIAA1093 Yes Yes Comparative Toxicogenomics Database:23112, Ensembl:ENSG00000100354, GeneCard:TNRC6B, HGNC:HGNC:29190, ModBase:Q9UPQ9, NCBI Gene:23112, OMIM:610740, RefSeq DNA:NT_011520, RefSeq Protein:NP_001020014, RefSeq Protein:NP_001155973, RefSeq Protein:NP_055903, RefSeq RNA:NM_001024843, RefSeq RNA:NM_001162501, RefSeq RNA:NM_015088, UniProtKB:Q9UPQ9 No chr22 40440046 40731812 40044817 40335808 +PA134880671 57690 HGNC:29318 ENSG00000078687 trinucleotide repeat containing adaptor 6C TNRC6C trinucleotide repeat containing 6C FLJ20015, KIAA1582 Yes No Ensembl:ENSG00000078687, GeneCard:TNRC6C, HGNC:HGNC:29318, ModBase:Q9HCJ0, NCBI Gene:57690, OMIM:610741, RefSeq DNA:NT_010783, RefSeq Protein:NP_001136112, RefSeq Protein:NP_061869, RefSeq RNA:NM_001142640, RefSeq RNA:NM_018996, UniProtKB:Q9HCJ0 No chr17 76000194 76104916 77974984 78108835 +PA36660 7145 HGNC:11973 ENSG00000079308 tensin 1 TNS1 protein phosphatase 1, regulatory subunit 155 DKFZp586K0617, MXRA6, PPP1R155, TNS Yes No Comparative Toxicogenomics Database:7145, Ensembl:ENSG00000079308, GenAtlas:TNS1, GeneCard:TNS1, HGNC:HGNC:11973, HumanCyc Gene:HS01319, ModBase:Q9HBL0, NCBI Gene:7145, OMIM:600076, RefSeq DNA:NT_005403, RefSeq Protein:NP_072174, RefSeq RNA:NM_022648, UCSC Genome Browser:NM_022648, UniProtKB:A1L0S7, UniProtKB:Q59G71, UniProtKB:Q86VB0, UniProtKB:Q9HBL0 No chr2 218664512 218808796 217799789 217978853 +PA134976096 23371 HGNC:19737 ENSG00000111077 tensin 2 TNS2 tensin 2, tensin like C1 domain containing phosphatase (tensin 2) C1-TEN, KIAA1075, TENC1, TNS2 Yes No Comparative Toxicogenomics Database:23371, Ensembl:ENSG00000111077, GeneCard:TENC1, HGNC:HGNC:19737, HumanCyc Gene:HS03367, ModBase:Q8NFF9, NCBI Gene:23371, OMIM:607717, RefSeq DNA:NT_029419, RefSeq Protein:NP_056134, RefSeq Protein:NP_736610, RefSeq Protein:NP_938072, RefSeq RNA:NM_015319, RefSeq RNA:NM_170754, RefSeq RNA:NM_198316, UniProtKB:Q63HR2 No chr12 53440810 53458163 53046980 53064379 +PA134888115 64759 HGNC:21616 ENSG00000136205 tensin 3 TNS3 tumor endothelial marker 6 FLJ13732, H_NH0549I23.2, TEM6, TENS1 Yes No Ensembl:ENSG00000136205, GeneCard:TNS3, HGNC:HGNC:21616, HumanCyc Gene:HS06129, ModBase:Q68CZ2, NCBI Gene:64759, OMIM:606825, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_073585, RefSeq RNA:NM_022748, UniProtKB:Q59GW4, UniProtKB:Q68CZ2 No chr7 47314752 47621742 47275154 47582553 +PA142670717 84951 HGNC:24352 ENSG00000131746 tensin 4 TNS4 C terminal tensin like CTEN Yes No Comparative Toxicogenomics Database:84951, Ensembl:ENSG00000131746, GeneCard:TNS4, HGNC:HGNC:24352, HumanCyc Gene:HS05559, ModBase:Q8IZW8, NCBI Gene:84951, OMIM:608385, RefSeq DNA:NT_010783, RefSeq Protein:NP_116254, RefSeq RNA:NM_032865, UniProtKB:Q6PJP3, UniProtKB:Q8IZW8 No chr17 38632080 38657933 40475828 40501681 +PA36661 7146 HGNC:11975 ENSG00000248290 tenascin XA (pseudogene) TNXA D6S103E, HXBL, XA Yes No Comparative Toxicogenomics Database:7146, Ensembl:ENSG00000248290, GenAtlas:TNXA, GeneCard:TNXA, HGNC:HGNC:11975, ModBase:Q16473, NCBI Gene:7146, RefSeq DNA:NG_004658, RefSeq DNA:NT_007592, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_001284 No chr6 31976197 31980800 32008420 32013023 +PA36662 7148 HGNC:11976 ENSG00000168477, ENSG00000229353, ENSG00000233323 tenascin XB TNXB Hexabrachion-like protein, tenascin-X HXBL, TN-X, TNX, TNXB1, TNXB2, TNXBS, XB, XBS Yes No Comparative Toxicogenomics Database:7148, Ensembl:ENSG00000168477, Ensembl:ENSG00000229353, Ensembl:ENSG00000233323, GenAtlas:TNXB, GeneCard:TNXB, HGNC:HGNC:11976, ModBase:Q9UMG7, NCBI Gene:7148, OMIM:130020, OMIM:600985, OMIM:606408, RefSeq DNA:NG_000013, RefSeq DNA:NG_004658, RefSeq DNA:NG_005163, RefSeq DNA:NG_008337, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_061978, RefSeq Protein:NP_115859, RefSeq RNA:NM_019105, RefSeq RNA:NM_032470, UCSC Genome Browser:NM_019105, UniProtKB:O95680, UniProtKB:O95681, UniProtKB:P22105, UniProtKB:Q6IPK3, UniProtKB:Q9Y464 No chr6 32008932 32077151 32041155 32109374 +PA36663 10140 HGNC:11979 ENSG00000141232 transducer of ERBB2, 1 TOB1 APRO5, TOB, TROB, TROB1 Yes No Comparative Toxicogenomics Database:10140, Ensembl:ENSG00000141232, GenAtlas:TOB1, GeneCard:TOB1, HGNC:HGNC:11979, HumanCyc Gene:HS06809, ModBase:P50616, NCBI Gene:10140, OMIM:605523, RefSeq DNA:NT_010783, RefSeq Protein:NP_005740, RefSeq RNA:NM_005749, UCSC Genome Browser:NM_005749, UniProtKB:P50616 No chr17 48939584 48945339 50862223 50867978 +PA36664 10766 HGNC:11980 ENSG00000183864 transducer of ERBB2, 2 TOB2 APRO5, TOB4, TOBL, TROB2, bK223H9 Yes No Comparative Toxicogenomics Database:10766, Ensembl:ENSG00000183864, GenAtlas:TOB2, GeneCard:TOB2, HGNC:HGNC:11980, ModBase:Q14106, NCBI Gene:10766, OMIM:607396, RefSeq DNA:NT_011520, RefSeq Protein:NP_057356, RefSeq RNA:NM_016272, UCSC Genome Browser:NM_016272, UniProtKB:Q14106 No chr22 41829492 41844234 41433488 41448230 +PA38064 114034 HGNC:15954 ENSG00000132773 target of EGR1, exonuclease TOE1 target of EGR1, member 1 (nuclear) TOE-1, hCaf1z Yes No Comparative Toxicogenomics Database:114034, Ensembl:ENSG00000132773, GenAtlas:TOE1, GeneCard:TOE1, HGNC:HGNC:15954, ModBase:Q96GM8, NCBI Gene:114034, RefSeq DNA:NT_032977, RefSeq Protein:NP_079353, RefSeq RNA:NM_025077, UCSC Genome Browser:NM_025077, UniProtKB:Q96GM8 No chr1 45805342 45809650 45339457 45343978 +PA162387516 23116 HGNC:19959 ENSG00000198718 TOG array regulator of axonemal microtubules 1 TOGARAM1 family with sequence similarity 179, member B Crescerin-1, FAM179B, KIAA0423, crescerin Yes No Ensembl:ENSG00000198718, GeneCard:FAM179B, HGNC:HGNC:19959, ModBase:Q9Y4F4, NCBI Gene:23116, RefSeq DNA:NT_026437, RefSeq Protein:NP_055906, RefSeq RNA:NM_015091, UniProtKB:Q6P183, UniProtKB:Q9Y4F4 No chr14 45431416 45543634 44962190 45074431 +PA162387471 165186 HGNC:33715 ENSG00000189350 TOG array regulator of axonemal microtubules 2 TOGARAM2 """crescerin 2"", ""family with sequence similarity 179, member A""" Crescerin-2, FAM179A, FLJ43249, LOC165186 Yes No Ensembl:ENSG00000189350, GeneCard:FAM179A, HGNC:HGNC:33715, ModBase:Q6ZUX3, NCBI Gene:165186, RefSeq DNA:NT_022184, RefSeq Protein:NP_954974, RefSeq RNA:NM_199280, UniProtKB:Q6ZUX3 No chr2 29204164 29275096 28981298 29052230 +PA134876213 54472 HGNC:16476 ENSG00000078902 toll interacting protein TOLLIP IL-1RAcPIP Yes Yes Comparative Toxicogenomics Database:54472, Ensembl:ENSG00000078902, GeneCard:TOLLIP, HGNC:HGNC:16476, HumanCyc Gene:HS01307, ModBase:Q9H0E2, NCBI Gene:54472, OMIM:606277, RefSeq DNA:NT_009237, RefSeq Protein:NP_061882, RefSeq RNA:NM_019009, UniProtKB:Q6FIE9, UniProtKB:Q9H0E2 No chr11 1295598 1330892 1274368 1309666 +PA36666 10043 HGNC:11982 ENSG00000100284 target of myb1 membrane trafficking protein TOM1 target of myb1 (chicken) Yes No Comparative Toxicogenomics Database:10043, Ensembl:ENSG00000100284, GenAtlas:TOM1, GeneCard:TOM1, HGNC:HGNC:11982, HumanCyc Gene:HS02023, ModBase:O60784, NCBI Gene:10043, OMIM:604700, RefSeq DNA:NT_011520, RefSeq Protein:NP_001129201, RefSeq Protein:NP_001129202, RefSeq Protein:NP_001129204, RefSeq Protein:NP_005479, RefSeq RNA:NM_001135729, RefSeq RNA:NM_001135730, RefSeq RNA:NM_001135732, RefSeq RNA:NM_005488, RefSeq RNA:NR_024194, RefSeq RNA:NR_024195, UCSC Genome Browser:NM_005488, UniProtKB:B3KUF5, UniProtKB:O60784 No chr22 35695268 35743987 35299275 35347994 +PA36667 10040 HGNC:11983 ENSG00000141198 target of myb1 like 1 membrane trafficking protein TOM1L1 target of myb1 (chicken)-like 1 SRCASM Yes No Comparative Toxicogenomics Database:10040, Ensembl:ENSG00000141198, GenAtlas:TOM1L1, GeneCard:TOM1L1, HGNC:HGNC:11983, HumanCyc Gene:HS06807, ModBase:O75674, NCBI Gene:10040, OMIM:604701, RefSeq DNA:NT_010783, RefSeq Protein:NP_005477, RefSeq RNA:NM_005486, UCSC Genome Browser:NM_005486, UniProtKB:O75674 No chr17 52977880 53039328 54900691 54961967 +PA36668 146691 HGNC:11984 ENSG00000175662 target of myb1 like 2 membrane trafficking protein TOM1L2 target of myb1-like 2 (chicken) Yes No Ensembl:ENSG00000175662, GenAtlas:TOM1L2, GeneCard:TOM1L2, HGNC:HGNC:11984, HumanCyc Gene:HS10967, ModBase:Q6ZVM7, NCBI Gene:146691, RefSeq DNA:NT_010718, RefSeq Protein:NP_001028723, RefSeq Protein:NP_001076437, RefSeq RNA:NM_001033551, RefSeq RNA:NM_001082968, UCSC Genome Browser:NM_144678, UniProtKB:Q6ZVM7 No chr17 17746822 17875784 17843508 17972470 +PA134964372 9804 HGNC:20947 ENSG00000173726 translocase of outer mitochondrial membrane 20 TOMM20 translocase of outer mitochondrial membrane 20 homolog (yeast), translocase of outer mitochondrial membrane 20 homolog type II KIAA0016, MAS20, MOM19, TOM20 Yes No Comparative Toxicogenomics Database:9804, Ensembl:ENSG00000173726, GeneCard:TOMM20, HGNC:HGNC:20947, HumanCyc Gene:HS10719, ModBase:Q15388, NCBI Gene:9804, OMIM:601848, RefSeq DNA:NT_167186, RefSeq Protein:NP_055580, RefSeq RNA:NM_014765, UniProtKB:Q15388 No chr1 235272656 235292256 235109341 235128941 +PA162406689 387990 HGNC:33752 ENSG00000196860 translocase of outer mitochondrial membrane 20 like TOMM20L translocase of outer mitochondrial membrane 20 homolog (yeast)-like, translocase of outer mitochondrial membrane 20 homolog type I UNQ9438 Yes No Ensembl:ENSG00000196860, GeneCard:TOMM20L, HGNC:HGNC:33752, ModBase:Q6UXN7, NCBI Gene:387990, RefSeq DNA:NT_026437, RefSeq Protein:NP_997260, RefSeq RNA:NM_207377, UniProtKB:Q6UXN7 No chr14 58862644 58875419 58395904 58417080 +PA38275 56993 HGNC:18002 ENSG00000100216 translocase of outer mitochondrial membrane 22 TOMM22 translocase of outer mitochondrial membrane 22 homolog (yeast) TOM22 Yes No Comparative Toxicogenomics Database:56993, Ensembl:ENSG00000100216, GenAtlas:TOMM22, GeneCard:TOMM22, HGNC:HGNC:18002, HumanCyc Gene:HS02003, NCBI Gene:56993, OMIM:607046, RefSeq DNA:NT_011520, RefSeq Protein:NP_064628, RefSeq RNA:NM_020243, UCSC Genome Browser:NM_020243, UniProtKB:Q549C5, UniProtKB:Q9NS69 No chr22 39077954 39080765 38681949 38684760 +PA165664775 100874517 HGNC:38740 ENSG00000248396 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 4 TOMM22P4 Yes No Ensembl:ENSG00000248396, HGNC:HGNC:38740, NCBI Gene:100874517 No chr4 163442854 163443193 162521702 162522041 +PA38032 10953 HGNC:15746 ENSG00000025772 translocase of outer mitochondrial membrane 34 TOMM34 outer mitochondrial membrane translocase (34kD) HTOM34P, TOM34 Yes No Comparative Toxicogenomics Database:10953, Ensembl:ENSG00000025772, GenAtlas:TOMM34, GeneCard:TOMM34, HGNC:HGNC:15746, HumanCyc Gene:HS00443, ModBase:Q15785, NCBI Gene:10953, RefSeq DNA:NT_011362, RefSeq Protein:NP_006800, RefSeq RNA:NM_006809, UCSC Genome Browser:NM_006809, UniProtKB:Q15785 No chr20 43570771 43589114 44942130 44960520 +PA38274 10452 HGNC:18001 ENSG00000130204 translocase of outer mitochondrial membrane 40 TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40 Yes Yes Comparative Toxicogenomics Database:10452, Ensembl:ENSG00000130204, GenAtlas:TOMM40, GeneCard:TOMM40, HGNC:HGNC:18001, HumanCyc Gene:HS05353, ModBase:O96008, NCBI Gene:10452, OMIM:608061, RefSeq DNA:NT_011109, RefSeq Protein:NP_001122388, RefSeq Protein:NP_001122389, RefSeq Protein:NP_006105, RefSeq RNA:NM_001128916, RefSeq RNA:NM_001128917, RefSeq RNA:NM_006114, UCSC Genome Browser:NM_006114, UniProtKB:O96008 No chr19 45394477 45406946 44891220 44903689 +PA142670714 84134 HGNC:25756 ENSG00000158882 translocase of outer mitochondrial membrane 40 like TOMM40L translocase of outer mitochondrial membrane 40 homolog (yeast)-like FLJ12770, TOMM40B Yes Yes Ensembl:ENSG00000158882, GeneCard:TOMM40L, HGNC:HGNC:25756, HumanCyc Gene:HS08343, ModBase:Q969M1, NCBI Gene:84134, RefSeq DNA:NT_004487, RefSeq Protein:NP_115550, RefSeq RNA:NM_032174, UniProtKB:Q969M1 No chr1 161195729 161200536 161225939 161230746 +PA164726670 401505 HGNC:31369 ENSG00000175768 translocase of outer mitochondrial membrane 5 TOMM5 translocase of outer mitochondrial membrane 5 homolog (yeast) C9orf105, Tom5, bA613M10.3 Yes No Ensembl:ENSG00000175768, GeneCard:TOMM5, HGNC:HGNC:31369, NCBI Gene:401505, RefSeq DNA:NT_008413, RefSeq Protein:NP_001001790, RefSeq Protein:NP_001127956, RefSeq Protein:NP_001127957, RefSeq Protein:XP_934873, RefSeq Protein:XP_939048, RefSeq Protein:XP_939050, RefSeq Protein:XP_939053, RefSeq Protein:XP_939055, RefSeq Protein:XP_939056, RefSeq Protein:XP_947017, RefSeq Protein:XP_950631, RefSeq Protein:XP_950633, RefSeq Protein:XP_950634, RefSeq Protein:XP_950638, RefSeq Protein:XP_950639, RefSeq RNA:NM_001001790, RefSeq RNA:NM_001134484, RefSeq RNA:NM_001134485, RefSeq RNA:XM_929780, RefSeq RNA:XM_933955, RefSeq RNA:XM_933957, RefSeq RNA:XM_933960, RefSeq RNA:XM_933962, RefSeq RNA:XM_933963, RefSeq RNA:XM_941924, RefSeq RNA:XM_945538, RefSeq RNA:XM_945540, RefSeq RNA:XM_945541, RefSeq RNA:XM_945545, RefSeq RNA:XM_945546, UniProtKB:C9JD66, UniProtKB:Q5JRT7, UniProtKB:Q8N4H5 No chr9 37588410 37592636 37588413 37592639 +PA164726679 100188893 HGNC:34528 ENSG00000214736 translocase of outer mitochondrial membrane 6 TOMM6 over-expressed breast tumor protein, translocase of outer mitochondrial membrane 6 homolog (yeast) OBTP, Tom6 Yes No Ensembl:ENSG00000214736, GeneCard:TOMM6, HGNC:HGNC:34528, NCBI Gene:100188893, RefSeq DNA:NT_007592, RefSeq Protein:NP_001127965, RefSeq RNA:NM_001134493, UniProtKB:Q96B49 No chr6 41755181 41757634 41787443 41789896 +PA134864325 54543 HGNC:21648 ENSG00000196683 translocase of outer mitochondrial membrane 7 TOMM7 translocase of outer mitochondrial membrane 7 homolog (yeast) Tom7 Yes No Comparative Toxicogenomics Database:54543, Ensembl:ENSG00000196683, GeneCard:TOMM7, HGNC:HGNC:21648, NCBI Gene:54543, OMIM:607980, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_061932, RefSeq RNA:NM_019059, UniProtKB:Q75MR5, UniProtKB:Q9P0U1 No chr7 22852251 22862471 22812632 22822852 +PA36669 9868 HGNC:11985 ENSG00000154174 translocase of outer mitochondrial membrane 70 TOMM70 Mitochondrial import receptor subunit TOM70, translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) KIAA0719, TOMM70A, Tom70 Yes No Comparative Toxicogenomics Database:9868, Ensembl:ENSG00000154174, GenAtlas:TOMM70A, GeneCard:TOMM70A, HGNC:HGNC:11985, HumanCyc Gene:HS07957, ModBase:O94826, NCBI Gene:9868, OMIM:606081, RefSeq DNA:NT_005612, RefSeq Protein:NP_055635, RefSeq RNA:NM_014820, UCSC Genome Browser:NM_014820, UniProtKB:O94826 No chr3 100082303 100120242 100363459 100401398 +PA166352233 120356740 HGNC:55527 transmembrane O-methyltransferase TOMT COMT2 Yes No HGNC:HGNC:55527, NCBI Gene:120356740 No 0 0 0 0 +PA31605 4796 HGNC:7801 ENSG00000160949 tonsoku like, DNA repair protein TONSL tonsoku-like, DNA repair protein IKBR, NFKBIL2 Yes No Ensembl:ENSG00000160949, GenAtlas:NFKBIL2, GeneCard:NFKBIL2, HGNC:HGNC:7801, HumanCyc Gene:HS08554, NCBI Gene:4796, OMIM:604546, RefSeq DNA:NT_037704, RefSeq Protein:NP_038460, RefSeq RNA:NM_013432, UCSC Genome Browser:NM_013432, UniProtKB:Q96HA7 No chr8 145654163 145669871 144428780 144444488 +PA353 7150 HGNC:11986 ENSG00000198900 DNA topoisomerase I TOP1 Scl-70 antigen, topoisomerase (DNA) I Yes Yes Comparative Toxicogenomics Database:7150, Ensembl:ENSG00000198900, GenAtlas:TOP1, GeneCard:TOP1, HGNC:HGNC:11986, HumanCyc Gene:HS04730, ModBase:P11387, NCBI Gene:7150, OMIM:126420, RefSeq DNA:NG_012262, RefSeq DNA:NT_011362, RefSeq Protein:NP_003277, RefSeq RNA:NM_003286, UCSC Genome Browser:NM_003286, UniProtKB:P11387 No chr20 39657462 39753127 41028822 41124487 +PA134922772 116447 HGNC:29787 ENSG00000184428 DNA topoisomerase I mitochondrial TOP1MT topoisomerase (DNA) I, mitochondrial Yes No Ensembl:ENSG00000184428, GeneCard:TOP1MT, HGNC:HGNC:29787, HumanCyc Gene:HS11917, ModBase:Q969P6, NCBI Gene:116447, OMIM:606387, RefSeq DNA:NT_008046, RefSeq Protein:NP_443195, RefSeq RNA:NM_052963, UniProtKB:Q969P6 No chr8 144391494 144442147 143309324 143359977 +PA36670 7151 HGNC:11987 ENSG00000285665 topoisomerase (DNA) I pseudogene 1 TOP1P1 Yes No Ensembl:ENSG00000285665, GenAtlas:TOP1P1, GeneCard:TOP1P1, HGNC:HGNC:11987, NCBI Gene:7151, RefSeq DNA:NT_004487, RefSeq RNA:NR_002719 No chr1 171308035 171310465 171338896 171341326 +PA36671 7152 HGNC:11988 topoisomerase (DNA) I pseudogene 2 TOP1P2 Yes No GenAtlas:TOP1P2, GeneCard:TOP1P2, HGNC:HGNC:11988, NCBI Gene:7152, RefSeq DNA:NT_011520, RefSeq RNA:NR_001283 No chr22 25160468 25161988 24764501 24766021 +PA354 7153 HGNC:11989 ENSG00000131747 DNA topoisomerase II alpha TOP2A topoisomerase (DNA) II alpha 170kDa TOP2, TOP2alpha, TOPIIA Yes Yes Comparative Toxicogenomics Database:7153, Ensembl:ENSG00000131747, GenAtlas:TOP2A, GeneCard:TOP2A, HGNC:HGNC:11989, HumanCyc Gene:HS05560, ModBase:P11388, NCBI Gene:7153, OMIM:126430, RefSeq DNA:NT_010783, RefSeq Protein:NP_001058, RefSeq RNA:NM_001067, UCSC Genome Browser:NM_001067, UniProtKB:P11388 No chr17 38544773 38574202 40388521 40417950 +PA36672 7155 HGNC:11990 ENSG00000077097 DNA topoisomerase II beta TOP2B topoisomerase (DNA) II beta 180kDa TOPIIB, top2beta Yes Yes Comparative Toxicogenomics Database:7155, Ensembl:ENSG00000077097, GenAtlas:TOP2B, GeneCard:TOP2B, HGNC:HGNC:11990, HumanCyc Gene:HS01229, ModBase:Q02880, NCBI Gene:7155, OMIM:126431, RefSeq DNA:NT_022517, RefSeq Protein:NP_001059, RefSeq RNA:NM_001068, UCSC Genome Browser:NM_001068, UniProtKB:Q02880, UniProtKB:Q8WTY5 No chr3 25639396 25706396 25597905 25664936 +PA36673 7156 HGNC:11992 ENSG00000177302 DNA topoisomerase III alpha TOP3A """topoisomerase (DNA) III alpha"", ""zinc finger, GRF-type containing 7""" TOP3, ZGRF7 Yes No Ensembl:ENSG00000177302, GenAtlas:TOP3A, GeneCard:TOP3A, HGNC:HGNC:11992, HumanCyc Gene:HS03184, HumanCyc Gene:HS11154, ModBase:Q13472, NCBI Gene:7156, OMIM:601243, RefSeq DNA:NT_010718, RefSeq Protein:NP_004609, RefSeq RNA:NM_004618, UCSC Genome Browser:NM_004618, UniProtKB:Q13472 No chr17 18177235 18218321 18269958 18315092 +PA36674 8940 HGNC:11993 ENSG00000100038 DNA topoisomerase III beta TOP3B topoisomerase (DNA) III beta Yes No Ensembl:ENSG00000100038, GenAtlas:TOP3B, GeneCard:TOP3B, HGNC:HGNC:11993, HumanCyc Gene:HS01961, ModBase:O95985, NCBI Gene:8940, OMIM:603582, RefSeq DNA:NT_011520, RefSeq Protein:NP_003926, RefSeq RNA:NM_003935, UCSC Genome Browser:NM_003935, UniProtKB:O95985 No chr22 22311397 22337219 21954380 21982843 +PA36675 23751 HGNC:11994 ENSG00000228050 topoisomerase (DNA) III beta pseudogene 1 TOP3BP1 Yes No Ensembl:ENSG00000228050, GenAtlas:TOP3B2, GeneCard:TOP3BP1, HGNC:HGNC:11994, NCBI Gene:23751, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520 No chr22 22577579 22578058 22223186 22223665 +PA162377704 79703 HGNC:26197 ENSG00000173715 TOP6B like initiator of meiotic double strand breaks TOP6BL chromosome 11 open reading frame 80 C11orf80, FLJ22531, TOPOVIBL Yes No Ensembl:ENSG00000173715, GeneCard:C11orf80, HGNC:HGNC:26197, HumanCyc Gene:HS16244, ModBase:Q8N6T0, NCBI Gene:79703, RefSeq DNA:NT_167190, RefSeq Protein:NP_078926, RefSeq RNA:NM_024650, UniProtKB:Q8N6T0 No chr11 66512207 66613997 66744736 66843516 +PA165696874 375337 HGNC:24746 ENSG00000173769 testis and ovary specific TOPAZ 1 TOPAZ1 testis and ovary specific PAZ domain containing 1 C3orf77, FLJ36157 Yes No Ensembl:ENSG00000173769, GeneCard:C3orf77, HGNC:HGNC:24746, NCBI Gene:375337, RefSeq DNA:NT_022517, RefSeq Protein:NP_001138502, RefSeq RNA:NM_001145030, UniProtKB:Q8N9V7 No chr3 44283378 44373590 44241886 44337071 +PA134934073 11073 HGNC:17008 ENSG00000163781 DNA topoisomerase II binding protein 1 TOPBP1 topoisomerase (DNA) II binding protein 1 Dpb11, KIAA0259, TOP2BP1 Yes No Comparative Toxicogenomics Database:11073, Ensembl:ENSG00000163781, GeneCard:TOPBP1, HGNC:HGNC:17008, HumanCyc Gene:HS08933, NCBI Gene:11073, OMIM:607760, RefSeq DNA:NT_005612, RefSeq Protein:NP_008958, RefSeq RNA:NM_007027, UniProtKB:A0AV47, UniProtKB:A7E2X7, UniProtKB:Q05BV8, UniProtKB:Q92547 No chr3 133319449 133380762 133600605 133662380 +PA134979531 10210 HGNC:21653 ENSG00000197579 TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase TOPORS """TOP1 binding arginine/serine rich protein"", ""topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase""" LUN, RP31, TP53BPL Yes No Comparative Toxicogenomics Database:10210, Ensembl:ENSG00000197579, GeneCard:TOPORS, HGNC:HGNC:21653, ModBase:Q9NS56, NCBI Gene:10210, OMIM:609507, OMIM:609923, RefSeq DNA:NG_017050, RefSeq DNA:NT_008413, RefSeq Protein:NP_001182551, RefSeq Protein:NP_005793, RefSeq RNA:NM_001195622, RefSeq RNA:NM_005802, UniProtKB:Q9NS56 No chr9 32540542 32552626 32540544 32552628 +PA27556 1861 HGNC:3098 ENSG00000136827 torsin family 1 member A TOR1A """torsin A"", ""torsin family 1, member A (torsin A)"", ""torsin-1A"", ""torsinA""" DQ2, DYT1 Yes No Comparative Toxicogenomics Database:1861, Ensembl:ENSG00000136827, GenAtlas:TOR1A, GeneCard:TOR1A, HGNC:HGNC:3098, HumanCyc Gene:HS06219, ModBase:O14656, NCBI Gene:1861, OMIM:128100, OMIM:605204, RefSeq DNA:NG_008049, RefSeq DNA:NT_008470, RefSeq Protein:NP_000104, RefSeq RNA:NM_000113, UCSC Genome Browser:NM_000113, UniProtKB:B3KPA1, UniProtKB:O14656 No chr9 132575221 132586441 129812942 129824245 +PA142670715 26092 HGNC:29456 ENSG00000143337 torsin 1A interacting protein 1 TOR1AIP1 lamina associated polypeptide 1B, torsin A interacting protein 1 FLJ13142, LAP1, LAP1B, LAP1C Yes No Comparative Toxicogenomics Database:26092, Ensembl:ENSG00000143337, GeneCard:TOR1AIP1, HGNC:HGNC:29456, HumanCyc Gene:HS13959, ModBase:Q9Y3X5, NCBI Gene:26092, RefSeq DNA:NT_004487, RefSeq Protein:NP_056417, RefSeq RNA:NM_015602, UniProtKB:Q5JTV8 No chr1 179851177 179889212 179882042 179920077 +PA142670716 163590 HGNC:24055 ENSG00000169905 torsin 1A interacting protein 2 TOR1AIP2 torsin A interacting protein 2 IFRG15, LULL1, NET9 Yes No Ensembl:ENSG00000169905, GeneCard:TOR1AIP2, HGNC:HGNC:24055, HumanCyc Gene:HS15827, ModBase:Q8NFQ8, NCBI Gene:163590, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186189, RefSeq Protein:NP_071742, RefSeq Protein:NP_659471, RefSeq RNA:NM_001199260, RefSeq RNA:NM_022347, RefSeq RNA:NM_145034, UniProtKB:Q8NFQ8 No chr1 179809102 179847867 179839967 179878614 +PA36676 27348 HGNC:11995 ENSG00000136816 torsin family 1 member B TOR1B """torsin B"", ""torsin family 1, member B (torsin B)""" DQ1, MGC4386 Yes No Comparative Toxicogenomics Database:27348, Ensembl:ENSG00000136816, GenAtlas:TOR1B, GeneCard:TOR1B, HGNC:HGNC:11995, HumanCyc Gene:HS06216, ModBase:O14657, NCBI Gene:27348, OMIM:608050, RefSeq DNA:NT_008470, RefSeq Protein:NP_055321, RefSeq RNA:NM_014506, UCSC Genome Browser:NM_014506, UniProtKB:O14657 No chr9 132565428 132573563 129803143 129811424 +PA36677 27433 HGNC:11996 ENSG00000160404 torsin family 2 member A TOR2A torsin family 2, member A FLJ14771, TORP1 Yes No Comparative Toxicogenomics Database:27433, Ensembl:ENSG00000160404, GenAtlas:TOR2A, GeneCard:TOR2A, HGNC:HGNC:11996, HumanCyc Gene:HS14810, ModBase:Q8N2E6, ModBase:Q8NAN5, NCBI Gene:27433, OMIM:608052, RefSeq DNA:NT_008470, RefSeq Protein:NP_001078816, RefSeq Protein:NP_001127902, RefSeq Protein:NP_001127903, RefSeq Protein:NP_569726, RefSeq RNA:NM_001085347, RefSeq RNA:NM_001134430, RefSeq RNA:NM_001134431, RefSeq RNA:NM_130459, UCSC Genome Browser:NM_130459, UniProtKB:Q5JU69, UniProtKB:Q8N2E6 No chr9 130493803 130497628 127731524 127735387 +PA36678 64222 HGNC:11997 ENSG00000186283 torsin family 3 member A TOR3A torsin family 3, member A ADIR, ADIR2, FLJ22345 Yes No Comparative Toxicogenomics Database:64222, Ensembl:ENSG00000186283, GenAtlas:TOR3A, GeneCard:TOR3A, HGNC:HGNC:11997, ModBase:Q9H497, NCBI Gene:64222, OMIM:607555, RefSeq DNA:NT_004487, RefSeq Protein:NP_071766, RefSeq RNA:NM_022371, UCSC Genome Browser:NM_022371, UniProtKB:Q9H497 No chr1 179050415 179067158 179081977 179095996 +PA162380839 54863 HGNC:25981 ENSG00000198113 torsin family 4 member A TOR4A torsin family 4, member A C9orf167, FLJ20245 Yes No Ensembl:ENSG00000198113, GeneCard:C9orf167, HGNC:HGNC:25981, ModBase:Q9NXH8, NCBI Gene:54863, RefSeq DNA:NT_024000, RefSeq Protein:NP_060193, RefSeq RNA:NM_017723, UniProtKB:Q9NXH8 No chr9 140172280 140177093 137277828 137282641 +PA162406704 9760 HGNC:18988 ENSG00000198846 thymocyte selection associated high mobility group box TOX thymocyte selection-associated high mobility group box KIAA0808, TOX1 Yes No Ensembl:ENSG00000198846, GeneCard:TOX, HGNC:HGNC:18988, ModBase:O94900, NCBI Gene:9760, OMIM:606863, RefSeq DNA:NG_011993, RefSeq DNA:NT_008183, RefSeq Protein:NP_055544, RefSeq RNA:NM_014729, UniProtKB:O94900 No chr8 59717977 60031767 58805418 59119293 +PA162406727 84969 HGNC:16095 ENSG00000124191 TOX high mobility group box family member 2 TOX2 granulosa cell HMG box 1 C20orf100, GCX-1, dJ1108D11.2 Yes No Ensembl:ENSG00000124191, GeneCard:TOX2, HGNC:HGNC:16095, HumanCyc Gene:HS04731, ModBase:Q96NM4, NCBI Gene:84969, OMIM:611163, RefSeq DNA:NT_011362, RefSeq Protein:NP_001092266, RefSeq Protein:NP_001092267, RefSeq Protein:NP_001092268, RefSeq Protein:NP_116272, RefSeq RNA:NM_001098796, RefSeq RNA:NM_001098797, RefSeq RNA:NM_001098798, RefSeq RNA:NM_032883, UniProtKB:Q96NM4 No chr20 42543492 42698256 43914852 44069616 +PA162406752 27324 HGNC:11972 ENSG00000103460 TOX high mobility group box family member 3 TOX3 CAGF9, TNRC9 Yes No Ensembl:ENSG00000103460, GeneCard:TOX3, HGNC:HGNC:11972, HumanCyc Gene:HS02506, NCBI Gene:27324, OMIM:611416, RefSeq DNA:NG_012623, RefSeq DNA:NT_010498, RefSeq Protein:NP_001073899, RefSeq Protein:NP_001139660, RefSeq RNA:NM_001080430, RefSeq RNA:NM_001146188, UniProtKB:B4DRD0, UniProtKB:O15405 No chr16 52471682 52581714 52436415 52547802 +PA162406753 9878 HGNC:20161 ENSG00000092203 TOX high mobility group box family member 4 TOX4 C14orf92, KIAA0737, LCP1 Yes No Comparative Toxicogenomics Database:9878, Ensembl:ENSG00000092203, GeneCard:TOX4, HGNC:HGNC:20161, HumanCyc Gene:HS01764, NCBI Gene:9878, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437, RefSeq Protein:NP_055643, RefSeq RNA:NM_014828, UniProtKB:O94842 No chr14 21945335 21967319 21477176 21499177 +PA36679 7157 HGNC:11998 ENSG00000141510 tumor protein p53 TP53 Li-Fraumeni syndrome LFS1, p53 Yes Yes Comparative Toxicogenomics Database:7157, Ensembl:ENSG00000141510, GenAtlas:TP53, GeneCard:TP53, HGNC:HGNC:11998, HumanCyc Gene:HS06839, NCBI Gene:7157, OMIM:114480, OMIM:114500, OMIM:114550, OMIM:151623, OMIM:161550, OMIM:191170, OMIM:202300, OMIM:259500, OMIM:260350, OMIM:260500, RefSeq DNA:NG_017013, RefSeq DNA:NT_010718, RefSeq Protein:NP_000537, RefSeq Protein:NP_001119584, RefSeq Protein:NP_001119585, RefSeq Protein:NP_001119586, RefSeq Protein:NP_001119587, RefSeq Protein:NP_001119588, RefSeq Protein:NP_001119589, RefSeq RNA:NM_000546, RefSeq RNA:NM_001126112, RefSeq RNA:NM_001126113, RefSeq RNA:NM_001126114, RefSeq RNA:NM_001126115, RefSeq RNA:NM_001126116, RefSeq RNA:NM_001126117, UCSC Genome Browser:NM_000546, UniProtKB:P04637, UniProtKB:Q3LRW1, UniProtKB:Q3LRW2, UniProtKB:Q3LRW3, UniProtKB:Q3LRW4, UniProtKB:Q3LRW5, UniProtKB:Q53GA5 No chr17 7571720 7590868 7668402 7687550 +PA164726680 63970 HGNC:29984 ENSG00000120471 tumor protein p53 regulated apoptosis inducing protein 1 TP53AIP1 p53AIP1 Yes Yes Ensembl:ENSG00000120471, GeneCard:TP53AIP1, HGNC:HGNC:29984, HumanCyc Gene:HS04404, NCBI Gene:63970, OMIM:605426, RefSeq DNA:NT_033899, RefSeq Protein:NP_001182123, RefSeq Protein:NP_001182124, RefSeq Protein:NP_071395, RefSeq RNA:NM_001195194, RefSeq RNA:NM_001195195, RefSeq RNA:NM_022112, UniProtKB:Q9HCN2 No chr11 128804627 128813294 128934732 128944233 +PA36680 7158 HGNC:11999 ENSG00000067369 tumor protein p53 binding protein 1 TP53BP1 53BP1, TDRD30, p202 Yes No Comparative Toxicogenomics Database:7158, Ensembl:ENSG00000067369, GenAtlas:TP53BP1, GeneCard:TP53BP1, HGNC:HGNC:11999, HumanCyc Gene:HS00908, ModBase:Q12888, NCBI Gene:7158, OMIM:605230, RefSeq DNA:NT_010194, RefSeq Protein:NP_001135451, RefSeq Protein:NP_001135452, RefSeq Protein:NP_005648, RefSeq RNA:NM_001141979, RefSeq RNA:NM_001141980, RefSeq RNA:NM_005657, UCSC Genome Browser:NM_005657, UniProtKB:Q12888 No chr15 43695262 43802707 43403064 43510509 +PA36681 7159 HGNC:12000 ENSG00000143514 tumor protein p53 binding protein 2 TP53BP2 tumor protein p53 binding protein, 2 53BP2, ASPP2, PPP1R13A Yes No Ensembl:ENSG00000143514, GenAtlas:TP53BP2, GeneCard:TP53BP2, HGNC:HGNC:12000, HumanCyc Gene:HS07067, ModBase:Q13625, NCBI Gene:7159, OMIM:602143, RefSeq DNA:NT_167186, RefSeq Protein:NP_001026855, RefSeq Protein:NP_005417, RefSeq RNA:NM_001031685, RefSeq RNA:NM_005426, UCSC Genome Browser:NM_005426, UniProtKB:B4DG66, UniProtKB:Q13625 No chr1 223967595 224033674 223779893 223845981 +PA33621 94299 HGNC:16328 tumor protein p53 binding protein, 2 pseudogene 1 TP53BP2P1 Yes No GenAtlas:PPP1R13AP, GeneCard:TP53BP2P1, HGNC:HGNC:16328, NCBI Gene:94299 No chr8 +PA134967898 9537 HGNC:16842 ENSG00000175274 tumor protein p53 inducible protein 11 TP53I11 PIG11 Yes No Comparative Toxicogenomics Database:9537, Ensembl:ENSG00000175274, GeneCard:TP53I11, HGNC:HGNC:16842, HumanCyc Gene:HS10903, NCBI Gene:9537, RefSeq DNA:NT_009237, RefSeq Protein:NP_001070255, RefSeq Protein:NP_006025, RefSeq RNA:NM_001076787, RefSeq RNA:NM_006034, UniProtKB:O14683 No chr11 44907454 44972919 44932348 44951306 +PA143485659 90313 HGNC:25102 ENSG00000167543 tumor protein p53 inducible protein 13 TP53I13 DSCP1 Yes No Ensembl:ENSG00000167543, GeneCard:TP53I13, HGNC:HGNC:25102, ModBase:Q8NBR0, NCBI Gene:90313, RefSeq DNA:NT_010799, RefSeq Protein:NP_612358, RefSeq RNA:NM_138349, UniProtKB:Q8NBR0 No chr17 27894198 27900175 29568067 29573157 +PA134923704 9540 HGNC:19373 ENSG00000115129 tumor protein p53 inducible protein 3 TP53I3 PIG3 Yes No Comparative Toxicogenomics Database:9540, Ensembl:ENSG00000115129, GeneCard:TP53I3, HGNC:HGNC:19373, HumanCyc Gene:HS03836, ModBase:Q53FA7, NCBI Gene:9540, OMIM:605171, RefSeq DNA:NT_022184, RefSeq Protein:NP_001193731, RefSeq Protein:NP_004872, RefSeq Protein:NP_671713, RefSeq RNA:NM_001206802, RefSeq RNA:NM_004881, RefSeq RNA:NM_147184, UniProtKB:Q53FA7 No chr2 24300303 24308085 24077428 24085215 +PA38278 94241 HGNC:18022 ENSG00000164938 tumor protein p53 inducible nuclear protein 1 TP53INP1 DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap Yes No Comparative Toxicogenomics Database:94241, Ensembl:ENSG00000164938, GenAtlas:TP53INP1, GeneCard:TP53INP1, HGNC:HGNC:18022, HumanCyc Gene:HS15259, NCBI Gene:94241, OMIM:606185, RefSeq DNA:NT_008046, RefSeq Protein:NP_001129205, RefSeq Protein:NP_150601, RefSeq RNA:NM_001135733, RefSeq RNA:NM_033285, UCSC Genome Browser:NM_033285, UniProtKB:Q96A56 No chr8 95938200 95961615 94925972 94949387 +PA25650 58476 HGNC:16104 ENSG00000078804 tumor protein p53 inducible nuclear protein 2 TP53INP2 diabetes and obesity regulated C20orf110, DKFZp434B2411, DKFZp434O0827, DOR, FLJ21759, FLJ23500, PINH, dJ1181N3.1 Yes No Ensembl:ENSG00000078804, GenAtlas:TP53INP2, GeneCard:TP53INP2, HGNC:HGNC:16104, HumanCyc Gene:HS01301, ModBase:Q8IXH6, NCBI Gene:58476, RefSeq DNA:NT_011362, RefSeq Protein:NP_067025, RefSeq RNA:NM_021202, UniProtKB:Q8IXH6 No chr20 33292147 33301240 34704303 34713439 +PA25774 112858 HGNC:16197 ENSG00000172315 TP53 regulating kinase TP53RK p53-related protein kinase BUD32, C20orf64, Nori-2p, TPRKB, dJ101A2.2, prpk Yes No Ensembl:ENSG00000172315, GenAtlas:TP53RK, GeneCard:TP53RK, HGNC:HGNC:16197, HumanCyc Gene:HS10486, ModBase:Q96S44, NCBI Gene:112858, OMIM:608679, RefSeq DNA:NT_011362, RefSeq Protein:NP_291028, RefSeq RNA:NM_033550, UCSC Genome Browser:NM_033550, UniProtKB:Q96S44 No chr20 45313004 45318301 46684365 46689637 +PA164726681 11257 HGNC:17026 ENSG00000182165 TP53 target 1 (non-protein coding) TP53TG1 TP53 target gene 1, long intergenic non-protein coding RNA 96 H_RG012D21.9, LINC00096 Yes No Comparative Toxicogenomics Database:11257, Ensembl:ENSG00000182165, GeneCard:TP53TG1, HGNC:HGNC:17026, NCBI Gene:11257, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq RNA:NR_015381 No chr7 86954663 86974808 87325347 87345492 +PA164726682 24150 HGNC:30759 ENSG00000183632 TP53 target 3 TP53TG3 p53 target gene 3 P53TG3, TP53TG3A Yes No Ensembl:ENSG00000183632, GeneCard:TP53TG3, HGNC:HGNC:30759, HumanCyc Gene:HS17532, NCBI Gene:24150, RefSeq DNA:NT_010393, RefSeq Protein:NP_057296, RefSeq RNA:NM_016212 No chr16 32684849 32687448 32673528 32678621 +PA165450804 729355 HGNC:37202 ENSG00000261509 TP53 target 3B TP53TG3B Yes No Ensembl:ENSG00000261509, GeneCard:TP53TG3B, HGNC:HGNC:37202, NCBI Gene:729355, RefSeq DNA:NT_010393, RefSeq Protein:NP_001093157, RefSeq Protein:NP_001192194, RefSeq RNA:NM_001099687, RefSeq RNA:NM_001205265, UniProtKB:Q9ULZ0 No chr16 33262120 33264719 33358385 33363478 +PA166049090 653550 HGNC:42962 ENSG00000205457 TP53 target 3C TP53TG3C Yes No Ensembl:ENSG00000205457, HGNC:HGNC:42962, NCBI Gene:653550 No chr16 33204354 33207581 33191770 33196858 +PA166049150 729264 HGNC:44657 ENSG00000205456 TP53 target 3D TP53TG3D Yes No Ensembl:ENSG00000205456, HGNC:HGNC:44657, NCBI Gene:729264 No chr16 32263413 32267243 32251926 32255928 +PA166181678 102724101 HGNC:51816 ENSG00000275034 TP53 target 3 family member E TP53TG3E Yes No Ensembl:ENSG00000275034, HGNC:HGNC:51816, NCBI Gene:102724101 No 0 0 0 0 +PA166181679 102724127 HGNC:51817 ENSG00000278848 TP53 target 3 family member F TP53TG3F Yes No Ensembl:ENSG00000278848, HGNC:HGNC:51817, NCBI Gene:102724127 No 0 0 0 0 +PA25639 27296 HGNC:15856 ENSG00000124251 TP53 target 5 TP53TG5 C20orf10, CLG01, dJ453C12.5 Yes No Ensembl:ENSG00000124251, GenAtlas:C20orf10, GeneCard:C20orf10, GeneCard:TP53TG5, HGNC:HGNC:15856, HumanCyc Gene:HS04750, NCBI Gene:27296, RefSeq DNA:NT_011362, RefSeq Protein:NP_055292, RefSeq RNA:NM_014477, UCSC Genome Browser:NM_014477, UniProtKB:Q9Y2B4 No chr20 44002520 44009937 45373880 45378550 +PA162406776 8626 HGNC:15979 ENSG00000073282 tumor protein p63 TP63 EEC3, KET, NBP, OFC8, SHFM4, TP53CP, TP53L, TP73L, p40, p51, p53CP, p63, p73H, p73L Yes No Ensembl:ENSG00000073282, GeneCard:TP63, HGNC:HGNC:15979, HumanCyc Gene:HS01101, ModBase:Q9UBV9, NCBI Gene:8626, OMIM:103285, OMIM:106260, OMIM:129400, OMIM:603273, OMIM:603543, OMIM:604292, OMIM:605289, RefSeq DNA:NG_007550, RefSeq DNA:NT_005612, RefSeq Protein:NP_001108450, RefSeq Protein:NP_001108451, RefSeq Protein:NP_001108452, RefSeq Protein:NP_001108453, RefSeq Protein:NP_001108454, RefSeq Protein:NP_003713, RefSeq RNA:NM_001114978, RefSeq RNA:NM_001114979, RefSeq RNA:NM_001114980, RefSeq RNA:NM_001114981, RefSeq RNA:NM_001114982, RefSeq RNA:NM_003722, UniProtKB:Q9H3D4 No chr3 189348942 189615068 189597115 189897279 +PA36684 7161 HGNC:12003 ENSG00000078900 tumor protein p73 TP73 P73 Yes No Comparative Toxicogenomics Database:7161, Ensembl:ENSG00000078900, GenAtlas:TP73, GeneCard:TP73, HGNC:HGNC:12003, HumanCyc Gene:HS01306, ModBase:Q9NTK8, NCBI Gene:7161, OMIM:601990, RefSeq DNA:NG_017035, RefSeq DNA:NT_004350, RefSeq Protein:NP_001119712, RefSeq Protein:NP_001119713, RefSeq Protein:NP_001119714, RefSeq Protein:NP_001191113, RefSeq Protein:NP_001191114, RefSeq Protein:NP_001191115, RefSeq Protein:NP_001191116, RefSeq Protein:NP_001191117, RefSeq Protein:NP_001191118, RefSeq Protein:NP_001191119, RefSeq Protein:NP_001191120, RefSeq Protein:NP_001191121, RefSeq Protein:NP_005418, RefSeq RNA:NM_001126240, RefSeq RNA:NM_001126241, RefSeq RNA:NM_001126242, RefSeq RNA:NM_001204184, RefSeq RNA:NM_001204185, RefSeq RNA:NM_001204186, RefSeq RNA:NM_001204187, RefSeq RNA:NM_001204188, RefSeq RNA:NM_001204189, RefSeq RNA:NM_001204190, RefSeq RNA:NM_001204191, RefSeq RNA:NM_001204192, RefSeq RNA:NM_005427, UCSC Genome Browser:NM_005427, UniProtKB:O15350 No chr1 3569129 3652765 3652565 3736201 +PA165751441 57212 HGNC:29052 ENSG00000227372 TP73 antisense RNA 1 TP73-AS1 p53-dependent apoptosis modulator PDAM Yes No Ensembl:ENSG00000227372, GeneCard:KIAA0495, HGNC:HGNC:29052, NCBI Gene:57212, RefSeq DNA:NT_004350, RefSeq Protein:NP_997189, RefSeq RNA:NM_207306, RefSeq RNA:NR_033708, RefSeq RNA:NR_033709, RefSeq RNA:NR_033710, RefSeq RNA:NR_033711, RefSeq RNA:NR_033712 No chr1 3652177 3663937 3735984 3747373 +PA36685 7162 HGNC:12004 ENSG00000146242 trophoblast glycoprotein TPBG 5T4, 5T4-AG Yes No Comparative Toxicogenomics Database:7162, Ensembl:ENSG00000146242, GenAtlas:TPBG, GeneCard:TPBG, HGNC:HGNC:12004, ModBase:Q13641, NCBI Gene:7162, OMIM:190920, RefSeq DNA:NT_007299, RefSeq Protein:NP_001159864, RefSeq Protein:NP_006661, RefSeq RNA:NM_001166392, RefSeq RNA:NM_006670, UCSC Genome Browser:NM_006670, UniProtKB:A8K555, UniProtKB:Q13641 No chr6 83072923 83077134 82363206 82370828 +PA166049109 100507050 HGNC:44159 ENSG00000261594 trophoblast glycoprotein like TPBGL trophoblast glycoprotein-like Yes No Ensembl:ENSG00000261594, HGNC:HGNC:44159, NCBI Gene:100507050 No chr11 74951950 74954749 75240905 75243704 +PA134922711 53373 HGNC:18182 ENSG00000186815 two pore segment channel 1 TPCN1 FLJ20612, KIAA1169, TPC1 Yes No Comparative Toxicogenomics Database:53373, Ensembl:ENSG00000186815, GeneCard:TPCN1, HGNC:HGNC:18182, IUPHAR Receptor:392, ModBase:Q9ULQ1, NCBI Gene:53373, OMIM:609666, RefSeq DNA:NT_009775, RefSeq Protein:NP_001137291, RefSeq Protein:NP_060371, RefSeq RNA:NM_001143819, RefSeq RNA:NM_017901, UniProtKB:Q9ULQ1 No chr12 113659260 113736390 113221429 113298589 +PA134937857 219931 HGNC:20820 ENSG00000162341 two pore segment channel 2 TPCN2 TPC2 Yes No Comparative Toxicogenomics Database:219931, Ensembl:ENSG00000162341, GeneCard:TPCN2, HGNC:HGNC:20820, HumanCyc Gene:HS08658, IUPHAR Receptor:393, ModBase:Q8NHX9, NCBI Gene:219931, OMIM:612163, OMIM:612267, RefSeq DNA:NG_016153, RefSeq DNA:NT_167190, RefSeq Protein:NP_620714, RefSeq RNA:NM_139075, UniProtKB:Q59G56, UniProtKB:Q8NHX9 No chr11 68816350 68858072 69048876 69090604 +PA36686 7163 HGNC:12005 ENSG00000076554 tumor protein D52 TPD52 D52, N8L, hD52 Yes No Comparative Toxicogenomics Database:7163, Ensembl:ENSG00000076554, GenAtlas:TPD52, GeneCard:TPD52, HGNC:HGNC:12005, HumanCyc Gene:HS01210, ModBase:P55327, NCBI Gene:7163, OMIM:604068, RefSeq DNA:NT_008183, RefSeq Protein:NP_001020423, RefSeq Protein:NP_001020424, RefSeq Protein:NP_005070, RefSeq RNA:NM_001025252, RefSeq RNA:NM_001025253, RefSeq RNA:NM_005079, UCSC Genome Browser:NM_005079, UniProtKB:A6NCF2, UniProtKB:D0UFD4, UniProtKB:P55327 No chr8 80947103 81083836 80034868 80171659 +PA36687 7164 HGNC:12006 ENSG00000111907 TPD52 like 1 TPD52L1 tumor protein D52-like 1 D53, TPD53, hD53 Yes No Comparative Toxicogenomics Database:7164, Ensembl:ENSG00000111907, GenAtlas:TPD52L1, GeneCard:TPD52L1, HGNC:HGNC:12006, HumanCyc Gene:HS03484, ModBase:Q9BUQ6, NCBI Gene:7164, OMIM:604069, RefSeq DNA:NT_025741, RefSeq Protein:NP_001003395, RefSeq Protein:NP_001003396, RefSeq Protein:NP_001003397, RefSeq Protein:NP_003278, RefSeq RNA:NM_001003395, RefSeq RNA:NM_001003396, RefSeq RNA:NM_001003397, RefSeq RNA:NM_003287, UCSC Genome Browser:NM_003287, UniProtKB:Q16890 No chr6 125474876 125584644 125153483 125264407 +PA36688 7165 HGNC:12007 ENSG00000101150 TPD52 like 2 TPD52L2 tumor protein D52-like 2 D54, TPD54, hD54 Yes No Comparative Toxicogenomics Database:7165, Ensembl:ENSG00000101150, GenAtlas:TPD52L2, GeneCard:TPD52L2, HGNC:HGNC:12007, HumanCyc Gene:HS02202, ModBase:O43399, NCBI Gene:7165, OMIM:603747, RefSeq DNA:NT_011333, RefSeq Protein:NP_003279, RefSeq Protein:NP_955391, RefSeq Protein:NP_955392, RefSeq Protein:NP_955393, RefSeq Protein:NP_955394, RefSeq Protein:NP_955395, RefSeq RNA:NM_003288, RefSeq RNA:NM_199359, RefSeq RNA:NM_199360, RefSeq RNA:NM_199361, RefSeq RNA:NM_199362, RefSeq RNA:NM_199363, UCSC Genome Browser:NM_003288, UniProtKB:O43399, UniProtKB:Q5JWU6, UniProtKB:Q5U0E0, UniProtKB:Q68E05, UniProtKB:Q6FGS1 No chr20 62496581 62522898 63865228 63891545 +PA142670712 89882 HGNC:23382 ENSG00000170777 TPD52 like 3 TPD52L3 tumor protein D52-like 3 D55, NYD-SP25, TPD55 Yes No Ensembl:ENSG00000170777, GeneCard:TPD52L3, HGNC:HGNC:23382, HumanCyc Gene:HS10178, NCBI Gene:89882, RefSeq DNA:NT_008413, RefSeq Protein:NP_001001874, RefSeq Protein:NP_001001875, RefSeq Protein:NP_277051, RefSeq RNA:NM_001001874, RefSeq RNA:NM_001001875, RefSeq RNA:NM_033516, UniProtKB:Q96J77 No chr9 6328349 6331900 6328349 6331900 +PA134901246 91978 HGNC:25058 ENSG00000141933 tubulin polyglutamylase complex subunit 1 TPGS1 polyglutamylase subunit 1 C19orf20, GTRGEO22, PGs1 Yes No Ensembl:ENSG00000141933, GeneCard:C19orf20, HGNC:HGNC:25058, ModBase:Q6ZTW0, NCBI Gene:91978, RefSeq DNA:NT_011255, RefSeq Protein:NP_277048, RefSeq RNA:NM_033513, UniProtKB:Q6ZTW0 No chr19 507497 519654 507497 519654 +PA128394637 25941 HGNC:24561 ENSG00000134779 tubulin polyglutamylase complex subunit 2 TPGS2 polyglutamylase subunit 2 C18orf10, DKFZP586M1523, HsT3006, PGs2 Yes No Comparative Toxicogenomics Database:25941, Ensembl:ENSG00000134779, GeneCard:C18orf10, HGNC:HGNC:24561, HumanCyc Gene:HS13545, ModBase:Q68CL5, NCBI Gene:25941, RefSeq DNA:NT_010966, RefSeq Protein:NP_056291, RefSeq RNA:NM_015476, UCSC Genome Browser:NM_015476, UniProtKB:Q68CL5 No chr18 34359513 34409179 36777647 36829393 +PA355 7166 HGNC:12008 ENSG00000129167 tryptophan hydroxylase 1 TPH1 tryptophan 5-monooxygenase TPH, TPRH Yes Yes Ensembl:ENSG00000129167, GeneCard:TPH1, HGNC:HGNC:12008, HumanCyc Gene:HS05250, ModBase:P17752, NCBI Gene:7166, OMIM:191060, RefSeq DNA:NG_011947, RefSeq DNA:NT_009237, RefSeq Protein:NP_004170, RefSeq RNA:NM_004179, UCSC Genome Browser:NM_004179, UniProtKB:P17752 No chr11 18042084 18062354 18020537 18040788 +PA128747823 121278 HGNC:20692 ENSG00000139287 tryptophan hydroxylase 2 TPH2 tryptophan 5-monooxygenase FLJ37295, NTPH Yes Yes Comparative Toxicogenomics Database:121278, Ensembl:ENSG00000139287, GeneCard:TPH2, HGNC:HGNC:20692, HumanCyc Gene:HS06603, ModBase:Q8IWU9, NCBI Gene:121278, OMIM:607478, OMIM:608516, OMIM:613003, RefSeq DNA:NG_008279, RefSeq DNA:NT_029419, RefSeq Protein:NP_775489, RefSeq RNA:NM_173353, UCSC Genome Browser:NM_173353, UniProtKB:Q8IWU9 No chr12 72332626 72426221 71938846 72032441 +PA36689 7167 HGNC:12009 ENSG00000111669 triosephosphate isomerase 1 TPI1 Yes No Comparative Toxicogenomics Database:7167, Ensembl:ENSG00000111669, GenAtlas:TPI1, GeneCard:TPI1, HGNC:HGNC:12009, HumanCyc Gene:HS03441, ModBase:P60174, NCBI Gene:7167, OMIM:190450, RefSeq DNA:NG_011948, RefSeq DNA:NT_009759, RefSeq Protein:NP_000356, RefSeq Protein:NP_001152759, RefSeq RNA:NM_000365, RefSeq RNA:NM_001159287, RefSeq RNA:NR_027483, UCSC Genome Browser:NM_000365, UniProtKB:P60174, UniProtKB:Q53HE2 No chr12 6976288 6980110 6867420 6870946 +PA38235 27010 HGNC:17358 ENSG00000196511 thiamin pyrophosphokinase 1 TPK1 placental protein 20, thiamine diphosphokinase, thiamine kinase, thiamine pyrophosphokinase 1 HTPK1, PP20 Yes No Comparative Toxicogenomics Database:27010, Ensembl:ENSG00000196511, GenAtlas:TPK1, GeneCard:TPK1, HGNC:HGNC:17358, HumanCyc Gene:HS02907, ModBase:Q9H3S4, NCBI Gene:27010, OMIM:606370, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001035947, RefSeq Protein:NP_071890, RefSeq RNA:NM_001042482, RefSeq RNA:NM_022445, UCSC Genome Browser:NM_022445, UniProtKB:Q9H3S4 No chr7 144149034 144533488 144451941 144836424 +PA36690 7168 HGNC:12010 ENSG00000140416 tropomyosin 1 TPM1 tropomyosin 1 (alpha) C15orf13, CMH3 Yes No Comparative Toxicogenomics Database:7168, Ensembl:ENSG00000140416, GenAtlas:TPM1, GeneCard:TPM1, HGNC:HGNC:12010, HumanCyc Gene:HS06714, ModBase:Q9UCI2, NCBI Gene:7168, OMIM:115196, OMIM:191010, OMIM:611878, RefSeq DNA:NG_007557, RefSeq DNA:NT_010194, RefSeq Protein:NP_000357, RefSeq Protein:NP_001018004, RefSeq Protein:NP_001018005, RefSeq Protein:NP_001018006, RefSeq Protein:NP_001018007, RefSeq Protein:NP_001018008, RefSeq Protein:NP_001018020, RefSeq RNA:NM_000366, RefSeq RNA:NM_001018004, RefSeq RNA:NM_001018005, RefSeq RNA:NM_001018006, RefSeq RNA:NM_001018007, RefSeq RNA:NM_001018008, RefSeq RNA:NM_001018020, UCSC Genome Browser:NM_000366, UniProtKB:O15513, UniProtKB:P09493, UniProtKB:Q9Y427 No chr15 63334838 63364114 63042196 63071915 +PA36691 7169 HGNC:12011 ENSG00000198467 tropomyosin 2 TPM2 nemaline myopathy type 4, tropomyosin 2 (beta) AMCD1, DA1, NEM4 Yes No Comparative Toxicogenomics Database:7169, Ensembl:ENSG00000198467, GenAtlas:TPM2, GeneCard:TPM2, HGNC:HGNC:12011, ModBase:P07951, NCBI Gene:7169, OMIM:108120, OMIM:161800, OMIM:190990, OMIM:601680, OMIM:609285, RefSeq DNA:NG_011620, RefSeq DNA:NT_008413, RefSeq Protein:NP_003280, RefSeq Protein:NP_998839, RefSeq RNA:NM_003289, RefSeq RNA:NM_213674, UCSC Genome Browser:NM_003289, UniProtKB:P07951 No chr9 35681990 35690583 35681993 35690056 +PA36692 7170 HGNC:12012 ENSG00000143549 tropomyosin 3 TPM3 NEM1, TRK Yes No Comparative Toxicogenomics Database:7170, Ensembl:ENSG00000143549, GenAtlas:TPM3, GeneCard:TPM3, HGNC:HGNC:12012, HumanCyc Gene:HS07075, ModBase:P06753, NCBI Gene:7170, OMIM:161800, OMIM:191030, OMIM:609284, RefSeq DNA:NG_008621, RefSeq DNA:NT_004487, RefSeq Protein:NP_001036816, RefSeq Protein:NP_001036817, RefSeq Protein:NP_001036818, RefSeq Protein:NP_689476, RefSeq Protein:NP_705935, RefSeq RNA:NM_001043351, RefSeq RNA:NM_001043352, RefSeq RNA:NM_001043353, RefSeq RNA:NM_152263, RefSeq RNA:NM_153649, UCSC Genome Browser:NM_152263, UniProtKB:P06753, UniProtKB:Q5VU66, UniProtKB:Q5VU72 No chr1 154127780 154164611 154155304 154192135 +PA38401 252956 HGNC:16350 ENSG00000213050 tropomyosin 3 pseudogene 1 TPM3P1 Yes No Ensembl:ENSG00000213050, GenAtlas:TPM3L2, GeneCard:TPM3P1, HGNC:HGNC:16350, NCBI Gene:252956, RefSeq DNA:NG_005722, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596 No chr7 116610951 116613034 116970897 116972985 +PA38164 170555 HGNC:16556 ENSG00000214200 tropomyosin 3 pseudogene 2 TPM3P2 dJ1125A11.2 Yes No Ensembl:ENSG00000214200, GenAtlas:TPM5P, GeneCard:TPM3P2, HGNC:HGNC:16556, NCBI Gene:170555, RefSeq DNA:NG_001060, RefSeq DNA:NT_011362 No chr20 32498554 32501229 33910723 33913423 +PA36693 7171 HGNC:12013 ENSG00000167460 tropomyosin 4 TPM4 Yes No Comparative Toxicogenomics Database:7171, Ensembl:ENSG00000167460, GenAtlas:TPM4, GeneCard:TPM4, HGNC:HGNC:12013, HumanCyc Gene:HS09560, ModBase:P67936, NCBI Gene:7171, OMIM:600317, RefSeq DNA:NG_015841, RefSeq DNA:NT_011295, RefSeq Protein:NP_001138632, RefSeq Protein:NP_003281, RefSeq RNA:NM_001145160, RefSeq RNA:NM_003290, UCSC Genome Browser:NM_003290, UniProtKB:P67936 No chr19 16178317 16213815 16067507 16103005 +PA356 7172 HGNC:12014 ENSG00000137364 thiopurine S-methyltransferase TPMT Yes Yes Comparative Toxicogenomics Database:7172, Ensembl:ENSG00000137364, GenAtlas:TPMT, GeneCard:TPMT, HGNC:HGNC:12014, HumanCyc Gene:HS06327, ModBase:O43213, NCBI Gene:7172, OMIM:187680, OMIM:610460, RefSeq DNA:NG_012137.3, RefSeq Protein:NP_000358, RefSeq RNA:NM_000367, UCSC Genome Browser:NM_000367, UniProtKB:P51580, UniProtKB:Q9BS45 Yes chr6 18128542 18155400 18128311 18155169 +PA142670713 400650 HGNC:17490 ENSG00000267156 thiopurine S-methyltransferase pseudogene 1 TPMTP1 Yes No Ensembl:ENSG00000267156, GeneCard:TPMTP1, HGNC:HGNC:17490, NCBI Gene:400650, RefSeq DNA:NG_004077, RefSeq DNA:NT_010966 No chr18 45156386 45158162 47630015 47631792 +PA36694 7173 HGNC:12015 ENSG00000115705 thyroid peroxidase TPO TPX Yes No Comparative Toxicogenomics Database:7173, Ensembl:ENSG00000115705, GenAtlas:TPO, GeneCard:TPO, HGNC:HGNC:12015, HumanCyc Gene:HS03930, ModBase:Q8TCI9, NCBI Gene:7173, OMIM:274500, OMIM:606765, RefSeq DNA:NG_011581, RefSeq DNA:NT_022221, RefSeq Protein:NP_000538, RefSeq Protein:NP_001193673, RefSeq Protein:NP_001193674, RefSeq Protein:NP_783650, RefSeq Protein:NP_783652, RefSeq Protein:NP_783653, RefSeq RNA:NM_000547, RefSeq RNA:NM_001206744, RefSeq RNA:NM_001206745, RefSeq RNA:NM_175719, RefSeq RNA:NM_175721, RefSeq RNA:NM_175722, UCSC Genome Browser:NM_000547, UniProtKB:P07202, UniProtKB:Q502Y3, UniProtKB:Q6P534 No chr2 1417233 1547445 1413461 1542729 +PA26600 1200 HGNC:2073 ENSG00000166340 tripeptidyl peptidase 1 TPP1 TPP I, lysosomal pepstatin-insensitive carboxypeptidase, tripeptidyl peptidase I CLN2, LPIC, SCAR7, TPP-1 Yes No Comparative Toxicogenomics Database:1200, Ensembl:ENSG00000166340, GenAtlas:TPP1, GeneCard:TPP1, HGNC:HGNC:2073, HumanCyc Gene:HS09379, ModBase:O14773, NCBI Gene:1200, OMIM:204500, OMIM:607998, RefSeq DNA:NG_008653, RefSeq DNA:NT_009237, RefSeq Protein:NP_000382, RefSeq RNA:NM_000391, UCSC Genome Browser:NM_000391, UniProtKB:O14773 No chr11 6633997 6640692 6612766 6619461 +PA36695 7174 HGNC:12016 ENSG00000134900 tripeptidyl peptidase 2 TPP2 tripeptidyl peptidase II TPPII Yes No Comparative Toxicogenomics Database:7174, Ensembl:ENSG00000134900, GenAtlas:TPP2, GeneCard:TPP2, HGNC:HGNC:12016, HumanCyc Gene:HS05928, ModBase:P29144, NCBI Gene:7174, OMIM:190470, RefSeq DNA:NT_009952, RefSeq Protein:NP_003282, RefSeq RNA:NM_003291, UCSC Genome Browser:NM_003291, UniProtKB:P29144 No chr13 103249286 103331524 102596936 102679174 +PA162406809 11076 HGNC:24164 ENSG00000171368 tubulin polymerization promoting protein TPPP brain specific protein p25 alpha TPPP/p25, TPPP1, p25, p25alpha Yes No Ensembl:ENSG00000171368, GeneCard:TPPP, HGNC:HGNC:24164, HumanCyc Gene:HS15979, ModBase:O94811, NCBI Gene:11076, OMIM:608773, RefSeq DNA:NT_006576, RefSeq Protein:NP_008961, RefSeq RNA:NM_007030, UniProtKB:O94811, UniProtKB:Q4L233 No chr5 659977 693510 659862 730454 +PA162406822 122664 HGNC:19293 ENSG00000179636 tubulin polymerization promoting protein family member 2 TPPP2 tubulin polymerization-promoting protein family member 2 C14orf8, CT152, p18, p25beta Yes No Ensembl:ENSG00000179636, GeneCard:TPPP2, HGNC:HGNC:19293, ModBase:P59282, NCBI Gene:122664, RefSeq DNA:NT_026437, RefSeq Protein:NP_776245, RefSeq RNA:NM_173846, UniProtKB:P59282 No chr14 21498345 21500334 21024262 21036352 +PA162406823 51673 HGNC:24162 ENSG00000159713 tubulin polymerization promoting protein family member 3 TPPP3 tubulin polymerization-promoting protein family member 3 CGI-38, p20, p25gamma Yes No Ensembl:ENSG00000159713, GeneCard:TPPP3, HGNC:HGNC:24162, HumanCyc Gene:HS14778, ModBase:Q9BW30, NCBI Gene:51673, RefSeq DNA:NT_010498, RefSeq Protein:NP_057048, RefSeq Protein:NP_057224, RefSeq RNA:NM_015964, RefSeq RNA:NM_016140, UniProtKB:Q9BW30 No chr16 67423710 67427449 67389807 67393535 +PA36696 7175 HGNC:12017 ENSG00000047410 translocated promoter region, nuclear basket protein TPR Yes No Comparative Toxicogenomics Database:7175, Ensembl:ENSG00000047410, GenAtlas:TPR, GeneCard:TPR, HGNC:HGNC:12017, HumanCyc Gene:HS00589, ModBase:P12270, NCBI Gene:7175, OMIM:189940, RefSeq DNA:NG_023284, RefSeq DNA:NT_004487, RefSeq Protein:NP_003283, RefSeq RNA:NM_003292, UCSC Genome Browser:NM_003292, UniProtKB:P12270, UniProtKB:Q99968 No chr1 186280784 186344883 186311652 186375325 +PA165698543 131601 HGNC:30413 ENSG00000163870 transmembrane protein adipocyte associated 1 TPRA1 """transmembrane protein 227"", ""transmembrane protein, adipocyte asscociated 1""" FLJ32197, GPR175, TMEM227, TPRA40 Yes No Ensembl:ENSG00000163870, GeneCard:TPRA1, HGNC:HGNC:30413, HumanCyc Gene:HS08955, NCBI Gene:131601, OMIM:608336, RefSeq DNA:NT_005612, RefSeq Protein:NP_001129525, RefSeq Protein:NP_001136118, RefSeq Protein:NP_057456, RefSeq RNA:NM_001136053, RefSeq RNA:NM_001142646, RefSeq RNA:NM_016372, UniProtKB:Q86W33 No chr3 127291907 127309602 127573064 127598234 +PA162406838 285386 HGNC:24759 ENSG00000188001 tumor protein p63 regulated 1 TPRG1 FAM79B, FLJ41238, FLJ43694 Yes No Ensembl:ENSG00000188001, GeneCard:TPRG1, HGNC:HGNC:24759, ModBase:Q6ZUI0, NCBI Gene:285386, RefSeq DNA:NT_005612, RefSeq Protein:NP_940887, RefSeq RNA:NM_198485, UniProtKB:Q6ZUI0 No chr3 188817910 189041271 189000774 189325304 +PA162406855 127262 HGNC:27007 ENSG00000158109 tumor protein p63 regulated 1 like TPRG1L Mossy fiber terminal-associated vertebrate-specific presynaptic protein, tumor protein p63 regulated 1-like FAM79A, FLJ21811, RP11-46F15.3, SVAP30, TPRGL, h-Mover Yes No Ensembl:ENSG00000158109, GeneCard:TPRG1L, HGNC:HGNC:27007, NCBI Gene:127262, OMIM:611460, RefSeq DNA:NT_004350, RefSeq Protein:NP_877429, RefSeq RNA:NM_182752, UniProtKB:Q5T0D9 No chr1 3541556 3546695 3624992 3630131 +PA143485660 51002 HGNC:24259 ENSG00000144034 TP53RK binding protein TPRKB CGI-121, CGI121 Yes No Ensembl:ENSG00000144034, GeneCard:TPRKB, HGNC:HGNC:24259, HumanCyc Gene:HS14000, ModBase:Q9Y3C4, NCBI Gene:51002, OMIM:608680, RefSeq DNA:NT_022184, RefSeq Protein:NP_057142, RefSeq RNA:NM_016058, UniProtKB:Q9Y3C4 No chr2 73955744 73964765 73729830 73740133 +PA165586341 286262 HGNC:26894 ENSG00000176058 taperin TPRN C9orf75, DFNB79, FLJ90254 Yes No Ensembl:ENSG00000176058, GeneCard:TPRN, HGNC:HGNC:26894, HumanCyc Gene:HS16578, NCBI Gene:286262, OMIM:613307, OMIM:613354, RefSeq DNA:NT_024000, RefSeq Protein:NP_001121700, RefSeq Protein:NP_775962, RefSeq RNA:NM_001128228, RefSeq RNA:NM_173691, UniProtKB:Q4KMQ1 No chr9 140086069 140095163 137191617 137200711 +PA142670706 284355 HGNC:32174 ENSG00000178928 tetrapeptide repeat homeobox 1 TPRX1 tetra-peptide repeat homeobox 1 FLJ40321 Yes No Ensembl:ENSG00000178928, GeneCard:TPRX1, HGNC:HGNC:32174, NCBI Gene:284355, OMIM:611166, RefSeq DNA:NT_011109, RefSeq Protein:NP_940881, RefSeq RNA:NM_198479, UniProtKB:Q8N7U7 No chr19 48304500 48322308 47801243 47803604 +PA142670707 503628 HGNC:32176 ENSG00000259021 tetra-peptide repeat homeobox 1 pseudogene 1 TPRX1P1 Yes No Ensembl:ENSG00000259021, GeneCard:TPRX1P1, HGNC:HGNC:32176, NCBI Gene:503628, RefSeq DNA:NG_004836, RefSeq DNA:NT_030059 No chr10 81258844 81259768 79499088 79500012 +PA166352234 503627 HGNC:32175 tetrapeptide repeat homeobox 2 TPRX2 TPRX2P TPRX2P1 Yes No HGNC:HGNC:32175, NCBI Gene:503627 No 0 0 0 0 +PA142670710 348825 HGNC:32178 ENSG00000180438 tetra-peptide repeat homeobox-like TPRXL FLJ35107 Yes No Ensembl:ENSG00000180438, GeneCard:TPRXL, HGNC:HGNC:32178, NCBI Gene:348825, OMIM:611167, RefSeq DNA:NT_022517, RefSeq RNA:NR_002223 No chr3 13978807 14107484 13937307 14065984 +PA36698 7177 HGNC:12019 ENSG00000172236 tryptase alpha/beta 1 TPSAB1 mast cell tryptase, tryptase alpha II, tryptase beta I, tryptase-I, tryptase-II, tryptase-III TPS1, TPS2, TPSB1 Yes No Comparative Toxicogenomics Database:7177, Ensembl:ENSG00000172236, GenAtlas:TPSAB1, GeneCard:TPSAB1, HGNC:HGNC:12019, ModBase:P15157, ModBase:Q15661, NCBI Gene:7177, OMIM:191080, RefSeq DNA:NG_005083, RefSeq DNA:NT_010393, RefSeq Protein:NP_003285, RefSeq RNA:NM_003294, UCSC Genome Browser:NM_003294, UniProtKB:P20231, UniProtKB:Q15661 No chr16 1290678 1292555 1240677 1242554 +PA37846 64499 HGNC:14120 ENSG00000197253 tryptase beta 2 TPSB2 tryptase beta 2 (gene/pseudogene), tryptase beta II, tryptase beta III Yes No Comparative Toxicogenomics Database:64499, Ensembl:ENSG00000197253, GenAtlas:TPSB2, GeneCard:TPSB2, HGNC:HGNC:14120, ModBase:P20231, NCBI Gene:64499, OMIM:191081, RefSeq DNA:NG_005083, RefSeq DNA:NT_010393, RefSeq Protein:NP_077078, RefSeq RNA:NM_024164, UCSC Genome Browser:NM_024164 No chr16 1278336 1280185 1228336 1230184 +PA37845 23430 HGNC:14118 ENSG00000095917 tryptase delta 1 TPSD1 MMCP-7-LIKE-2, mMCP-7-like I, mMCP-7-like II Yes No Ensembl:ENSG00000095917, GenAtlas:TPSD1, GeneCard:TPSD1, HGNC:HGNC:14118, HumanCyc Gene:HS01837, ModBase:Q9BZJ3, NCBI Gene:23430, OMIM:609272, RefSeq DNA:NG_005083, RefSeq DNA:NT_010393, RefSeq Protein:NP_036349, RefSeq RNA:NM_012217, UCSC Genome Browser:NM_012217, UniProtKB:Q9BZJ3 No chr16 1306273 1308494 1256272 1258493 +PA37849 25823 HGNC:14134 ENSG00000116176 tryptase gamma 1 TPSG1 tryptase gamma I, tryptase gamma II PRSS31, TMT Yes No Comparative Toxicogenomics Database:25823, Ensembl:ENSG00000116176, GenAtlas:TPSG1, GeneCard:TPSG1, HGNC:HGNC:14134, HumanCyc Gene:HS03992, ModBase:Q9NRR2, NCBI Gene:25823, OMIM:609341, RefSeq DNA:NG_005083, RefSeq DNA:NT_010393, RefSeq Protein:NP_036599, RefSeq RNA:NM_012467, UCSC Genome Browser:NM_012467, UniProtKB:Q9NRR2 No chr16 1271651 1275254 1221651 1226454 +PA37853 100129339 HGNC:14182 tryptase pseudogene 1 TPSP1 Yes No GenAtlas:TPSP1, GeneCard:TPSP1, HGNC:HGNC:14182, NCBI Gene:100129339, RefSeq DNA:NG_008445, RefSeq DNA:NT_010393 No chr16 1323725 1326396 1273724 1276395 +PA165450833 650474 HGNC:14136 ENSG00000260284 tryptase pseudogene 2 TPSP2 Mastin Yes No Ensembl:ENSG00000260284, HGNC:HGNC:14136, NCBI Gene:650474 No chr16 1336344 1339074 1286343 1289073 +PA36699 8460 HGNC:12020 ENSG00000169902 tyrosylprotein sulfotransferase 1 TPST1 transport and golgi organization 13 homolog A (Drosophila) TANGO13A Yes No Comparative Toxicogenomics Database:8460, Ensembl:ENSG00000169902, GenAtlas:TPST1, GeneCard:TPST1, HGNC:HGNC:12020, HumanCyc Gene:HS10030, ModBase:O60507, NCBI Gene:8460, OMIM:603125, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_003587, RefSeq RNA:NM_003596, UCSC Genome Browser:NM_003596, UniProtKB:A4D2M0, UniProtKB:O60507 No chr7 65670259 65825438 66205272 66360451 +PA36700 8459 HGNC:12021 ENSG00000128294 tyrosylprotein sulfotransferase 2 TPST2 protein-tyrosine sulfotransferase 2, transport and golgi organization 13 homolog B (Drosophila) TANGO13B Yes No Comparative Toxicogenomics Database:8459, Ensembl:ENSG00000128294, GenAtlas:TPST2, GeneCard:TPST2, HGNC:HGNC:12021, HumanCyc Gene:HS05176, ModBase:O60704, NCBI Gene:8459, OMIM:603126, RefSeq DNA:NT_011520, RefSeq Protein:NP_001008566, RefSeq Protein:NP_003586, RefSeq RNA:NM_001008566, RefSeq RNA:NM_003595, UCSC Genome Browser:NM_003595, UniProtKB:O60704 No chr22 26921714 26986089 26524082 26590125 +PA36701 7178 HGNC:12022 ENSG00000133112 tumor protein, translationally-controlled 1 TPT1 TCTP, fortilin Yes No Comparative Toxicogenomics Database:7178, Ensembl:ENSG00000133112, GenAtlas:TPT1, GeneCard:TPT1, HGNC:HGNC:12022, HumanCyc Gene:HS05737, ModBase:P13693, NCBI Gene:7178, OMIM:600763, RefSeq DNA:NT_024524, RefSeq Protein:NP_003286, RefSeq RNA:NM_003295, UCSC Genome Browser:NM_003295, UniProtKB:P13693 No chr13 45911005 45915505 45333471 45341284 +PA134873005 100131268 HGNC:16742 ENSG00000234107 tumor protein, translationally-controlled 1 pseudogene 1 TPT1P1 Yes No Ensembl:ENSG00000234107, GeneCard:TPT1P, HGNC:HGNC:16742, NCBI Gene:100131268 No chr21 33212560 33213367 31840248 31841055 +PA36702 7179 HGNC:12023 ENSG00000274391 transmembrane phosphatase with tensin homology TPTE PTEN-related tyrosine phosphatase, cancer/testis antigen 44 CT44, PTEN2, TPTE1 Yes No Ensembl:ENSG00000274391, GenAtlas:TPTE, GeneCard:TPTE, HGNC:HGNC:12023, HumanCyc Gene:HS09341, ModBase:P56180, NCBI Gene:7179, OMIM:604336, RefSeq DNA:NT_029490, RefSeq Protein:NP_954868, RefSeq Protein:NP_954869, RefSeq Protein:NP_954870, RefSeq RNA:NM_199259, RefSeq RNA:NM_199260, RefSeq RNA:NM_199261, UCSC Genome Browser:NM_013315, UniProtKB:B2RAP7, UniProtKB:P56180 No chr21 10906741 10990920 10521514 10606270 +PA134917664 93492 HGNC:17299 ENSG00000132958 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 TPTE2 TPIP Yes No Comparative Toxicogenomics Database:93492, Ensembl:ENSG00000132958, GeneCard:TPTE2, HGNC:HGNC:17299, HumanCyc Gene:HS05712, ModBase:Q6XPS3, NCBI Gene:93492, OMIM:606791, RefSeq DNA:NT_024524, RefSeq Protein:NP_001135440, RefSeq Protein:NP_570141, RefSeq Protein:NP_954863, RefSeq RNA:NM_001141968, RefSeq RNA:NM_130785, RefSeq RNA:NM_199254, UniProtKB:A1A4X0, UniProtKB:A8MX64, UniProtKB:Q6XPS3 No chr13 19997017 20135714 19422877 19561574 +PA164726706 646405 HGNC:35196 ENSG00000253771 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1 TPTE2P1 Yes No Ensembl:ENSG00000253771, HGNC:HGNC:35196, NCBI Gene:646405 No chr13 25502893 25542607 24928755 24968469 +PA128395783 387590 HGNC:43648 ENSG00000100181 transmembrane phosphatase with tensin homology pseudogene 1 TPTEP1 psiTPTE22 Yes No Comparative Toxicogenomics Database:387590, Ensembl:ENSG00000100181, HGNC:HGNC:43648, NCBI Gene:387590, RefSeq DNA:NT_011519, RefSeq RNA:NR_001591, UCSC Genome Browser:NM_015860 No chr22 17082801 17129720 16601911 16648830 +PA25638 22974 HGNC:1249 ENSG00000088325 TPX2 microtubule nucleation factor TPX2 """TPX2, microtubule nucleation factor"", ""TPX2, microtubule-associated"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"", ""Targeting protein for Xklp2"", ""differentially expressed in cancerous and noncancerous lung cells 2"", ""hepatocellular carcinoma-associated antigen 519""" C20orf1, C20orf2, DIL-2, FLS353, HCA519, p100 Yes No Comparative Toxicogenomics Database:22974, Ensembl:ENSG00000088325, GenAtlas:TPX2, GeneCard:TPX2, HGNC:HGNC:1249, HumanCyc Gene:HS01599, ModBase:Q9ULW0, NCBI Gene:22974, OMIM:605917, RefSeq DNA:NT_011362, RefSeq Protein:NP_036244, RefSeq RNA:NM_012112, UCSC Genome Browser:NM_012112, UniProtKB:Q643R0, UniProtKB:Q9ULW0 No chr20 30326904 30389605 31739101 31801802 +PA36704 6955 HGNC:12027 T cell receptor alpha locus TRA TCRA, TRA@ Yes No GenAtlas:TRA@, GeneCard:TRA@, HGNC:HGNC:12027, ModBase:P01848, NCBI Gene:6955, OMIM:186880, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22090057 23021075 21621904 22552132 +PA164726707 29896 HGNC:16645 ENSG00000164548 transformer 2 alpha homolog TRA2A transformer 2 alpha homolog (Drosophila) AWMS1, htra-2-alpha, tra2a Yes No Ensembl:ENSG00000164548, GeneCard:TRA2A, HGNC:HGNC:16645, HumanCyc Gene:HS09095, NCBI Gene:29896, OMIM:602718, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_037425, RefSeq RNA:NM_013293, UniProtKB:Q13595, UniProtKB:Q549U1 No chr7 23544399 23571656 23504780 23532041 +PA35697 6434 HGNC:10781 ENSG00000136527 transformer 2 beta homolog TRA2B """protein phosphatase 1, regulatory subunit 156"", ""transformer 2 beta homolog (Drosophila)""" Htra2-beta, PPP1R156, SFRS10 Yes No Comparative Toxicogenomics Database:6434, Ensembl:ENSG00000136527, GenAtlas:SFRS10, GeneCard:SFRS10, GeneCard:TRA2B, HGNC:HGNC:10781, HumanCyc Gene:HS06177, ModBase:P62995, NCBI Gene:6434, OMIM:602719, RefSeq DNA:NT_005612, RefSeq Protein:NP_004584, RefSeq RNA:NM_004593, UCSC Genome Browser:NM_004593, UniProtKB:P62995 No chr3 185632356 185655924 185914568 185938136 +PA145147893 80305 HGNC:28805 ENSG00000170638 TraB domain containing TRABD PP2447 Yes No Comparative Toxicogenomics Database:80305, Ensembl:ENSG00000170638, GeneCard:TRABD, HGNC:HGNC:28805, ModBase:Q9H4I3, NCBI Gene:80305, RefSeq DNA:NT_011526, RefSeq Protein:NP_079480, RefSeq RNA:NM_025204, UniProtKB:Q9H4I3 No chr22 50624344 50638027 50185889 50199599 +PA165696373 129293 HGNC:27013 ENSG00000186854 TraB domain containing 2A TRABD2A C2orf89, TIKI1 Yes No Ensembl:ENSG00000186854, GeneCard:C2orf89, HGNC:HGNC:27013, NCBI Gene:129293, RefSeq DNA:NT_022184, RefSeq Protein:NP_001074293, RefSeq RNA:NM_001080824, UniProtKB:Q86V40 No chr2 85048774 85108369 84821650 84881975 +PA166049114 388630 HGNC:44200 ENSG00000269113 TraB domain containing 2B TRABD2B TIKI2 Yes No Ensembl:ENSG00000269113, HGNC:HGNC:44200, NCBI Gene:388630 No chr1 48226200 48463009 47760528 47997367 +PA36706 28755 HGNC:12029 ENSG00000277734 T cell receptor alpha constant TRAC Yes Yes Ensembl:ENSG00000277734, GenAtlas:TRAC, GeneCard:TRAC, HGNC:HGNC:12029, NCBI Gene:28755, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23016447 23021075 22547506 22552132 +PA36707 8717 HGNC:12030 ENSG00000102871 TNFRSF1A associated via death domain TRADD TNFRSF1A-associated via death domain Hs.89862 Yes No Comparative Toxicogenomics Database:8717, Ensembl:ENSG00000102871, GenAtlas:TRADD, GeneCard:TRADD, HGNC:HGNC:12030, HumanCyc Gene:HS02418, ModBase:Q15628, NCBI Gene:8717, OMIM:603500, RefSeq DNA:NT_010498, RefSeq Protein:NP_003780, RefSeq RNA:NM_003789, UCSC Genome Browser:NM_003789, UniProtKB:Q15628 No chr16 67188088 67193812 67154185 67159909 +PA36708 7185 HGNC:12031 ENSG00000056558 TNF receptor associated factor 1 TRAF1 TNF receptor-associated factor 1 EBI6 Yes Yes Comparative Toxicogenomics Database:7185, Ensembl:ENSG00000056558, GenAtlas:TRAF1, GeneCard:TRAF1, HGNC:HGNC:12031, HumanCyc Gene:HS00696, ModBase:Q13077, NCBI Gene:7185, OMIM:601711, RefSeq DNA:NG_023346, RefSeq DNA:NT_008470, RefSeq Protein:NP_001177874, RefSeq Protein:NP_001177876, RefSeq Protein:NP_005649, RefSeq RNA:NM_001190945, RefSeq RNA:NM_001190947, RefSeq RNA:NM_005658, UCSC Genome Browser:NM_005658, UniProtKB:Q13077, UniProtKB:Q658U1 No chr9 123664671 123691451 120902393 120929173 +PA164742666 7186 HGNC:12032 ENSG00000127191 TNF receptor associated factor 2 TRAF2 TNF receptor-associated factor 2 RNF117, TRAP3 Yes No Ensembl:ENSG00000127191, GeneCard:TRAF2, HGNC:HGNC:12032, HumanCyc Gene:HS05078, ModBase:Q12933, NCBI Gene:7186, OMIM:601895, RefSeq DNA:NT_024000, RefSeq Protein:NP_066961, RefSeq RNA:NM_021138, UniProtKB:A8K107, UniProtKB:Q12933 No chr9 139776341 139821853 136881776 136926615 +PA36710 7187 HGNC:12033 ENSG00000131323 TNF receptor associated factor 3 TRAF3 TNF receptor-associated factor 3 CAP-1, CD40bp, CRAF1, LAP1, RNF118 Yes No Comparative Toxicogenomics Database:7187, Ensembl:ENSG00000131323, GenAtlas:TRAF3, GeneCard:TRAF3, HGNC:HGNC:12033, HumanCyc Gene:HS05511, ModBase:Q13114, NCBI Gene:7187, OMIM:601896, RefSeq DNA:NT_026437, RefSeq Protein:NP_001186356, RefSeq Protein:NP_003291, RefSeq Protein:NP_663777, RefSeq Protein:NP_663778, RefSeq RNA:NM_001199427, RefSeq RNA:NM_003300, RefSeq RNA:NM_145725, RefSeq RNA:NM_145726, UCSC Genome Browser:NM_003300, UniProtKB:A6NHG8, UniProtKB:Q13114 No chr14 103243816 103377837 102777479 102911500 +PA134943602 26146 HGNC:17861 ENSG00000204104 TRAF3 interacting protein 1 TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1, microtubule interacting protein that associates with TRAF3 CFAP116, DKFZP434F124, FAP116, IFT54, MIP-T3, MIPT3 Yes No Comparative Toxicogenomics Database:26146, Ensembl:ENSG00000204104, GeneCard:TRAF3IP1, HGNC:HGNC:17861, NCBI Gene:26146, OMIM:607380, RefSeq DNA:NT_005120, RefSeq Protein:NP_001132962, RefSeq Protein:NP_056465, RefSeq RNA:NM_001139490, RefSeq RNA:NM_015650, UniProtKB:Q8TDR0 No chr2 239229185 239309541 238320489 238400900 +PA25938 10758 HGNC:1343 ENSG00000056972 TRAF3 interacting protein 2 TRAF3IP2 ACT1, C6orf2, C6orf4, C6orf5, C6orf6, CIKS, DKFZP586G0522 Yes Yes Comparative Toxicogenomics Database:10758, Ensembl:ENSG00000056972, GenAtlas:TRAF3IP2, GeneCard:TRAF3IP2, HGNC:HGNC:1343, HumanCyc Gene:HS00702, ModBase:O43734, NCBI Gene:10758, OMIM:607043, RefSeq DNA:NT_025741, RefSeq Protein:NP_001157753, RefSeq Protein:NP_001157754, RefSeq Protein:NP_001157755, RefSeq Protein:NP_671733, RefSeq Protein:NP_679211, RefSeq RNA:NM_001164281, RefSeq RNA:NM_001164282, RefSeq RNA:NM_001164283, RefSeq RNA:NM_147200, RefSeq RNA:NM_147686, RefSeq RNA:NR_028338, UCSC Genome Browser:NM_015524, UCSC Genome Browser:NM_147200, UniProtKB:O43734, UniProtKB:Q7Z6Q1, UniProtKB:Q7Z6Q2 No chr6 111876581 111927477 111555378 111606874 +PA25931 643749 HGNC:40005, HGNC:1342 ENSG00000231889 TRAF3IP2 antisense RNA 1 TRAF3IP2-AS1 Yes No Ensembl:ENSG00000231889, GenAtlas:C6orf3, GeneCard:C6orf3, GeneCard:NCRNA00248, HGNC:HGNC:40005, HGNC:HGNC:1342, NCBI Gene:643749 No chr6 111804675 111923498 111483472 111602295 +PA142670711 80342 HGNC:30766 ENSG00000009790 TRAF3 interacting protein 3 TRAF3IP3 TRAF3 interacting Jun N terminal kinase (JNK) activating modulator T3JAM Yes No Ensembl:ENSG00000009790, GeneCard:TRAF3IP3, HGNC:HGNC:30766, HumanCyc Gene:HS12032, NCBI Gene:80342, OMIM:608255, RefSeq DNA:NT_167186, RefSeq Protein:NP_079504, RefSeq RNA:NM_025228, UniProtKB:Q9Y228 No chr1 209929393 209955668 209756032 209782323 +PA36711 9618 HGNC:12034 ENSG00000076604 TNF receptor associated factor 4 TRAF4 TNF receptor-associated factor 4 CART1, MLN62, RNF83 Yes No Comparative Toxicogenomics Database:9618, Ensembl:ENSG00000076604, GenAtlas:TRAF4, GeneCard:TRAF4, HGNC:HGNC:12034, HumanCyc Gene:HS01212, ModBase:Q9BUZ4, NCBI Gene:9618, OMIM:602464, RefSeq DNA:NT_010799, RefSeq Protein:NP_004286, RefSeq RNA:NM_004295, UCSC Genome Browser:NM_004295, UniProtKB:Q9BUZ4 No chr17 27071023 27077976 28744003 28750958 +PA36712 7188 HGNC:12035 ENSG00000082512 TNF receptor associated factor 5 TRAF5 TNF receptor-associated factor 5 RNF84 Yes No Comparative Toxicogenomics Database:7188, Ensembl:ENSG00000082512, GenAtlas:TRAF5, GeneCard:TRAF5, HGNC:HGNC:12035, HumanCyc Gene:HS01424, ModBase:O00463, NCBI Gene:7188, OMIM:602356, RefSeq DNA:NT_167186, RefSeq Protein:NP_001029082, RefSeq Protein:NP_004610, RefSeq Protein:NP_665702, RefSeq RNA:NM_001033910, RefSeq RNA:NM_004619, RefSeq RNA:NM_145759, UCSC Genome Browser:NM_004619, UniProtKB:O00463, UniProtKB:Q6FHY1 No chr1 211499849 211548403 211326587 211374946 +PA36713 7189 HGNC:12036 ENSG00000175104 TNF receptor associated factor 6 TRAF6 """RING finger protein 85"", ""TNF receptor-associated factor 6, E3 ubiquitin protein ligase""" RNF85 Yes No Comparative Toxicogenomics Database:7189, Ensembl:ENSG00000175104, GenAtlas:TRAF6, GeneCard:TRAF6, HGNC:HGNC:12036, HumanCyc Gene:HS10879, ModBase:Q9Y4K3, NCBI Gene:7189, OMIM:602355, RefSeq DNA:NT_009237, RefSeq Protein:NP_004611, RefSeq Protein:NP_665802, RefSeq RNA:NM_004620, RefSeq RNA:NM_145803, UCSC Genome Browser:NM_004620, UniProtKB:Q9Y4K3 No chr11 36505317 36531863 36483767 36510313 +PA134917323 84231 HGNC:20456 ENSG00000131653 TNF receptor associated factor 7 TRAF7 TNF receptor-associated factor 7, E3 ubiquitin protein ligase DKFZp586I021, MGC7807, RFWD1, RNF119 Yes No Comparative Toxicogenomics Database:84231, Ensembl:ENSG00000131653, GeneCard:TRAF7, HGNC:HGNC:20456, HumanCyc Gene:HS05548, ModBase:Q6Q0C0, NCBI Gene:84231, OMIM:606692, RefSeq DNA:NT_010393, RefSeq Protein:NP_115647, RefSeq RNA:NM_032271, UniProtKB:B3KQY7, UniProtKB:Q6Q0C0 No chr16 2205763 2228130 2155752 2178129 +PA142670704 10906 HGNC:24808 ENSG00000135148 TRAF-type zinc finger domain containing 1 TRAFD1 FLN29 Yes No Comparative Toxicogenomics Database:10906, Ensembl:ENSG00000135148, GeneCard:TRAFD1, HGNC:HGNC:24808, HumanCyc Gene:HS13561, ModBase:O14545, NCBI Gene:10906, OMIM:613197, RefSeq DNA:NT_009775, RefSeq Protein:NP_001137378, RefSeq Protein:NP_006691, RefSeq RNA:NM_001143906, RefSeq RNA:NM_006700, UniProtKB:O14545 No chr12 112563349 112591408 112125545 112153604 +PA142670705 10293 HGNC:30764 ENSG00000183763 TRAF interacting protein TRAIP ring finger protein 206 RNF206, TRIP Yes No Comparative Toxicogenomics Database:10293, Ensembl:ENSG00000183763, GeneCard:TRAIP, HGNC:HGNC:30764, ModBase:Q9BWF2, NCBI Gene:10293, OMIM:605958, RefSeq DNA:NT_022517, RefSeq Protein:NP_005870, RefSeq RNA:NM_005879, UniProtKB:Q9BWF2 No chr3 49866028 49893992 49828595 49856584 +PA36714 28754 HGNC:12037 ENSG00000211888 T cell receptor alpha joining 1 (non-functional) TRAJ1 Yes No Ensembl:ENSG00000211888, GenAtlas:TRAJ1, GeneCard:TRAJ1, HGNC:HGNC:12037, NCBI Gene:28754, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23013981 23014042 22545037 22545098 +PA36715 28745 HGNC:12038 ENSG00000211879 T cell receptor alpha joining 10 TRAJ10 Yes No Ensembl:ENSG00000211879, GenAtlas:TRAJ10, GeneCard:TRAJ10, HGNC:HGNC:12038, NCBI Gene:28745, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23002445 23002508 22533497 22533560 +PA36716 28744 HGNC:12039 ENSG00000211878 T cell receptor alpha joining 11 TRAJ11 Yes No Ensembl:ENSG00000211878, GenAtlas:TRAJ11, GeneCard:TRAJ11, HGNC:HGNC:12039, NCBI Gene:28744, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23001452 23001511 22532502 22532561 +PA36717 28743 HGNC:12040 ENSG00000211877 T cell receptor alpha joining 12 TRAJ12 Yes No Ensembl:ENSG00000211877, GenAtlas:TRAJ12, GeneCard:TRAJ12, HGNC:HGNC:12040, NCBI Gene:28743, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23000889 23000948 22531939 22531998 +PA36718 28742 HGNC:12041 ENSG00000211876 T cell receptor alpha joining 13 TRAJ13 Yes No Ensembl:ENSG00000211876, GenAtlas:TRAJ13, GeneCard:TRAJ13, HGNC:HGNC:12041, NCBI Gene:28742, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23000026 23000088 22531076 22531138 +PA36719 28741 HGNC:12042 ENSG00000211875 T cell receptor alpha joining 14 TRAJ14 Yes No Ensembl:ENSG00000211875, GenAtlas:TRAJ14, GeneCard:TRAJ14, HGNC:HGNC:12042, NCBI Gene:28741, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22999278 22999329 22530327 22530378 +PA36720 28740 HGNC:12043 T cell receptor alpha joining 15 TRAJ15 Yes No GenAtlas:TRAJ15, GeneCard:TRAJ15, HGNC:HGNC:12043, NCBI Gene:28740, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22998580 22998641 22529629 22529688 +PA36721 28739 HGNC:12044 ENSG00000211873 T cell receptor alpha joining 16 TRAJ16 Yes No Ensembl:ENSG00000211873, GenAtlas:TRAJ16, GeneCard:TRAJ16, HGNC:HGNC:12044, NCBI Gene:28739, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22997487 22997546 22528527 22528586 +PA36722 28738 HGNC:12045 ENSG00000211872 T cell receptor alpha joining 17 TRAJ17 Yes No Ensembl:ENSG00000211872, GenAtlas:TRAJ17, GeneCard:TRAJ17, HGNC:HGNC:12045, NCBI Gene:28738, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22995812 22995874 22526844 22526906 +PA36723 28737 HGNC:12046 ENSG00000211871 T cell receptor alpha joining 18 TRAJ18 Yes No Ensembl:ENSG00000211871, GenAtlas:TRAJ18, GeneCard:TRAJ18, HGNC:HGNC:12046, NCBI Gene:28737, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22994620 22994685 22525650 22525715 +PA36724 28736 HGNC:12047 ENSG00000211870 T cell receptor alpha joining 19 (non-functional) TRAJ19 Yes No Ensembl:ENSG00000211870, GenAtlas:TRAJ19, GeneCard:TRAJ19, HGNC:HGNC:12047, NCBI Gene:28736, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22994233 22994292 22525263 22525322 +PA36725 28753 HGNC:12048 ENSG00000211887 T cell receptor alpha joining 2 (non-functional) TRAJ2 Yes No Ensembl:ENSG00000211887, GenAtlas:TRAJ2, GeneCard:TRAJ2, HGNC:HGNC:12048, NCBI Gene:28753, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23013015 23013080 22544071 22544136 +PA36726 28735 HGNC:12049 ENSG00000211869 T cell receptor alpha joining 20 TRAJ20 Yes No Ensembl:ENSG00000211869, GenAtlas:TRAJ20, GeneCard:TRAJ20, HGNC:HGNC:12049, NCBI Gene:28735, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22993296 22993352 22524325 22524381 +PA36727 28734 HGNC:12050 ENSG00000211868 T cell receptor alpha joining 21 TRAJ21 Yes No Ensembl:ENSG00000211868, GenAtlas:TRAJ21, GeneCard:TRAJ21, HGNC:HGNC:12050, NCBI Gene:28734, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22992573 22992627 22523600 22523654 +PA36728 28733 HGNC:12051 ENSG00000211867 T cell receptor alpha joining 22 TRAJ22 Yes No Ensembl:ENSG00000211867, GenAtlas:TRAJ22, GeneCard:TRAJ22, HGNC:HGNC:12051, NCBI Gene:28733, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22991016 22991078 22522040 22522102 +PA36729 28732 HGNC:12052 ENSG00000211866 T cell receptor alpha joining 23 TRAJ23 Yes No Ensembl:ENSG00000211866, GenAtlas:TRAJ23, GeneCard:TRAJ23, HGNC:HGNC:12052, NCBI Gene:28732, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22989394 22989456 22520416 22520478 +PA36730 28731 HGNC:12053 ENSG00000211865 T cell receptor alpha joining 24 TRAJ24 Yes No Ensembl:ENSG00000211865, GenAtlas:TRAJ24, GeneCard:TRAJ24, HGNC:HGNC:12053, NCBI Gene:28731, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22988947 22989009 22519969 22520031 +PA36731 28730 HGNC:12054 ENSG00000211864 T cell receptor alpha joining 25 (non-functional) TRAJ25 Yes No Ensembl:ENSG00000211864, GenAtlas:TRAJ25, GeneCard:TRAJ25, HGNC:HGNC:12054, NCBI Gene:28730, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22987790 22987849 22518812 22518871 +PA36732 28729 HGNC:12055 ENSG00000211863 T cell receptor alpha joining 26 TRAJ26 Yes No Ensembl:ENSG00000211863, GenAtlas:TRAJ26, GeneCard:TRAJ26, HGNC:HGNC:12055, NCBI Gene:28729, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22987424 22987483 22518446 22518505 +PA36733 28728 HGNC:12056 ENSG00000211862 T cell receptor alpha joining 27 TRAJ27 Yes No Ensembl:ENSG00000211862, GenAtlas:TRAJ27, GeneCard:TRAJ27, HGNC:HGNC:12056, NCBI Gene:28728, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22985251 22985309 22516273 22516331 +PA36734 28727 HGNC:12057 ENSG00000211861 T cell receptor alpha joining 28 TRAJ28 Yes No Ensembl:ENSG00000211861, GenAtlas:TRAJ28, GeneCard:TRAJ28, HGNC:HGNC:12057, NCBI Gene:28727, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22984601 22984666 22515623 22515688 +PA36735 28726 HGNC:12058 ENSG00000211860 T cell receptor alpha joining 29 TRAJ29 Yes No Ensembl:ENSG00000211860, GenAtlas:TRAJ29, GeneCard:TRAJ29, HGNC:HGNC:12058, NCBI Gene:28726, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22982921 22982980 22513939 22513998 +PA36736 28752 HGNC:12059 ENSG00000211886 T cell receptor alpha joining 3 TRAJ3 Yes No Ensembl:ENSG00000211886, GenAtlas:TRAJ3, GeneCard:TRAJ3, HGNC:HGNC:12059, NCBI Gene:28752, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23012122 23012183 22543179 22543240 +PA36737 28725 HGNC:12060 ENSG00000211859 T cell receptor alpha joining 30 TRAJ30 Yes No Ensembl:ENSG00000211859, GenAtlas:TRAJ30, GeneCard:TRAJ30, HGNC:HGNC:12060, NCBI Gene:28725, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22981834 22981890 22512852 22512908 +PA36738 28724 HGNC:12061 ENSG00000211858 T cell receptor alpha joining 31 TRAJ31 Yes No Ensembl:ENSG00000211858, GenAtlas:TRAJ31, GeneCard:TRAJ31, HGNC:HGNC:12061, NCBI Gene:28724, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22979951 22980007 22510968 22511024 +PA36739 28723 HGNC:12062 ENSG00000211857 T cell receptor alpha joining 32 TRAJ32 Yes No Ensembl:ENSG00000211857, GenAtlas:TRAJ32, GeneCard:TRAJ32, HGNC:HGNC:12062, NCBI Gene:28723, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22978325 22978390 22509341 22509406 +PA36740 28722 HGNC:12063 ENSG00000211856 T cell receptor alpha joining 33 TRAJ33 Yes No Ensembl:ENSG00000211856, GenAtlas:TRAJ33, GeneCard:TRAJ33, HGNC:HGNC:12063, NCBI Gene:28722, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22977587 22977643 22508602 22508658 +PA36741 28721 HGNC:12064 ENSG00000211855 T cell receptor alpha joining 34 TRAJ34 Yes No Ensembl:ENSG00000211855, GenAtlas:TRAJ34, GeneCard:TRAJ34, HGNC:HGNC:12064, NCBI Gene:28721, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22976651 22976708 22507666 22507723 +PA36747 28720 HGNC:12065 ENSG00000211854 T cell receptor alpha joining 35 (non-functional) TRAJ35 Yes No Ensembl:ENSG00000211854, GenAtlas:TRAJ35, GeneCard:TRAJ35, HGNC:HGNC:12065, NCBI Gene:28720, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22975629 22975687 22506644 22506702 +PA36748 28719 HGNC:12066 ENSG00000276699 T cell receptor alpha joining 36 TRAJ36 Yes No Ensembl:ENSG00000276699, GenAtlas:TRAJ36, GeneCard:TRAJ36, HGNC:HGNC:12066, NCBI Gene:28719, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22974096 22974155 22505110 22505168 +PA36749 28718 HGNC:12067 ENSG00000278661 T cell receptor alpha joining 37 TRAJ37 Yes No Ensembl:ENSG00000278661, GenAtlas:TRAJ37, GeneCard:TRAJ37, HGNC:HGNC:12067, NCBI Gene:28718, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22972735 22972797 22503750 22503811 +PA36750 28717 HGNC:12068 ENSG00000211851 T cell receptor alpha joining 38 TRAJ38 Yes No Ensembl:ENSG00000211851, GenAtlas:TRAJ38, GeneCard:TRAJ38, HGNC:HGNC:12068, NCBI Gene:28717, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22971215 22971276 22502231 22502292 +PA36751 28716 HGNC:12069 ENSG00000211850 T cell receptor alpha joining 39 TRAJ39 Yes No Ensembl:ENSG00000211850, GenAtlas:TRAJ39, GeneCard:TRAJ39, HGNC:HGNC:12069, NCBI Gene:28716, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22970585 22970647 22501601 22501663 +PA36752 28751 HGNC:12070 ENSG00000211885 T cell receptor alpha joining 4 TRAJ4 Yes No Ensembl:ENSG00000211885, GenAtlas:TRAJ4, GeneCard:TRAJ4, HGNC:HGNC:12070, NCBI Gene:28751, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23011142 23011204 22542199 22542261 +PA36753 28715 HGNC:12071 ENSG00000211849 T cell receptor alpha joining 40 TRAJ40 Yes No Ensembl:ENSG00000211849, GenAtlas:TRAJ40, GeneCard:TRAJ40, HGNC:HGNC:12071, NCBI Gene:28715, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22968672 22968732 22499689 22499749 +PA36754 28714 HGNC:12072 ENSG00000211848 T cell receptor alpha joining 41 TRAJ41 Yes No Ensembl:ENSG00000211848, GenAtlas:TRAJ41, GeneCard:TRAJ41, HGNC:HGNC:12072, NCBI Gene:28714, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22966642 22966703 22497657 22497718 +PA36755 28713 HGNC:12073 ENSG00000211847 T cell receptor alpha joining 42 TRAJ42 Yes No Ensembl:ENSG00000211847, GenAtlas:TRAJ42, GeneCard:TRAJ42, HGNC:HGNC:12073, NCBI Gene:28713, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22965872 22965937 22496887 22496952 +PA36756 28712 HGNC:12074 ENSG00000211846 T cell receptor alpha joining 43 TRAJ43 Yes No Ensembl:ENSG00000211846, GenAtlas:TRAJ43, GeneCard:TRAJ43, HGNC:HGNC:12074, NCBI Gene:28712, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22964896 22964949 22495913 22495966 +PA36757 28711 HGNC:12075 ENSG00000211845 T cell receptor alpha joining 44 TRAJ44 Yes No Ensembl:ENSG00000211845, GenAtlas:TRAJ44, GeneCard:TRAJ44, HGNC:HGNC:12075, NCBI Gene:28711, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22963806 22963868 22494821 22494883 +PA36758 28710 HGNC:12076 ENSG00000211844 T cell receptor alpha joining 45 TRAJ45 Yes No Ensembl:ENSG00000211844, GenAtlas:TRAJ45, GeneCard:TRAJ45, HGNC:HGNC:12076, NCBI Gene:28710, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22962911 22962976 22493925 22493990 +PA36759 28709 HGNC:12077 ENSG00000211843 T cell receptor alpha joining 46 TRAJ46 Yes No Ensembl:ENSG00000211843, GenAtlas:TRAJ46, GeneCard:TRAJ46, HGNC:HGNC:12077, NCBI Gene:28709, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22962389 22962451 22493403 22493465 +PA36760 28708 HGNC:12078 ENSG00000211842 T cell receptor alpha joining 47 TRAJ47 Yes No Ensembl:ENSG00000211842, GenAtlas:TRAJ47, GeneCard:TRAJ47, HGNC:HGNC:12078, NCBI Gene:28708, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22961838 22961894 22492851 22492907 +PA36761 28707 HGNC:12079 ENSG00000211841 T cell receptor alpha joining 48 TRAJ48 Yes No Ensembl:ENSG00000211841, GenAtlas:TRAJ48, GeneCard:TRAJ48, HGNC:HGNC:12079, NCBI Gene:28707, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22959479 22959541 22490491 22490553 +PA36762 28706 HGNC:12080 ENSG00000211840 T cell receptor alpha joining 49 TRAJ49 Yes No Ensembl:ENSG00000211840, GenAtlas:TRAJ49, GeneCard:TRAJ49, HGNC:HGNC:12080, NCBI Gene:28706, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22958476 22958531 22489488 22489543 +PA36763 28750 HGNC:12081 ENSG00000211884 T cell receptor alpha joining 5 TRAJ5 Yes No Ensembl:ENSG00000211884, GenAtlas:TRAJ5, GeneCard:TRAJ5, HGNC:HGNC:12081, NCBI Gene:28750, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23009190 23009249 22540247 22540306 +PA36764 28705 HGNC:12082 ENSG00000211839 T cell receptor alpha joining 50 TRAJ50 Yes No Ensembl:ENSG00000211839, GenAtlas:TRAJ50, GeneCard:TRAJ50, HGNC:HGNC:12082, NCBI Gene:28705, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22957581 22957640 22488593 22488652 +PA36765 28704 HGNC:12083 ENSG00000248366 T cell receptor alpha joining 51 (pseudogene) TRAJ51 Yes No Ensembl:ENSG00000248366, GenAtlas:TRAJ51, GeneCard:TRAJ51, HGNC:HGNC:12083, NCBI Gene:28704, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22956171 22956233 22487183 22487245 +PA36766 28703 HGNC:12084 ENSG00000211838 T cell receptor alpha joining 52 TRAJ52 Yes No Ensembl:ENSG00000211838, GenAtlas:TRAJ52, GeneCard:TRAJ52, HGNC:HGNC:12084, NCBI Gene:28703, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22955216 22955284 22486228 22486296 +PA36767 28702 HGNC:12085 ENSG00000211837 T cell receptor alpha joining 53 TRAJ53 Yes No Ensembl:ENSG00000211837, GenAtlas:TRAJ53, GeneCard:TRAJ53, HGNC:HGNC:12085, NCBI Gene:28702, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22951993 22952058 22483004 22483069 +PA36768 28701 HGNC:12086 ENSG00000211836 T cell receptor alpha joining 54 TRAJ54 Yes No Ensembl:ENSG00000211836, GenAtlas:TRAJ54, GeneCard:TRAJ54, HGNC:HGNC:12086, NCBI Gene:28701, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22951276 22951335 22482287 22482346 +PA36769 28700 HGNC:12087 ENSG00000250688 T cell receptor alpha joining 55 (pseudogene) TRAJ55 Yes No Ensembl:ENSG00000250688, GenAtlas:TRAJ55, GeneCard:TRAJ55, HGNC:HGNC:12087, NCBI Gene:28700, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22950686 22950742 22481697 22481753 +PA36770 28699 HGNC:12088 ENSG00000211835 T cell receptor alpha joining 56 TRAJ56 Yes No Ensembl:ENSG00000211835, GenAtlas:TRAJ56, GeneCard:TRAJ56, HGNC:HGNC:12088, NCBI Gene:28699, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22948510 22948571 22479521 22479582 +PA36771 28698 HGNC:12089 ENSG00000211834 T cell receptor alpha joining 57 TRAJ57 Yes No Ensembl:ENSG00000211834, GenAtlas:TRAJ57, GeneCard:TRAJ57, HGNC:HGNC:12089, NCBI Gene:28698, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22947861 22947923 22478872 22478934 +PA36772 28697 HGNC:12090 ENSG00000211833 T cell receptor alpha joining 58 (non-functional) TRAJ58 Yes No Ensembl:ENSG00000211833, GenAtlas:TRAJ58, GeneCard:TRAJ58, HGNC:HGNC:12090, NCBI Gene:28697, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22946696 22946758 22477707 22477769 +PA36773 28696 HGNC:12091 ENSG00000211832 T cell receptor alpha joining 59 (non-functional) TRAJ59 Yes No Ensembl:ENSG00000211832, GenAtlas:TRAJ59, GeneCard:TRAJ59, HGNC:HGNC:12091, NCBI Gene:28696, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22945543 22945596 22476553 22476606 +PA36774 28749 HGNC:12092 ENSG00000211883 T cell receptor alpha joining 6 TRAJ6 Yes No Ensembl:ENSG00000211883, GenAtlas:TRAJ6, GeneCard:TRAJ6, HGNC:HGNC:12092, NCBI Gene:28749, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23008016 23008077 22539073 22539134 +PA36775 28695 HGNC:12093 ENSG00000249446 T cell receptor alpha joining 60 (pseudogene) TRAJ60 Yes No Ensembl:ENSG00000249446, GenAtlas:TRAJ60, GeneCard:TRAJ60, HGNC:HGNC:12093, NCBI Gene:28695, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22945296 22945352 22476306 22476362 +PA36776 28694 HGNC:12094 ENSG00000211831 T cell receptor alpha joining 61 (non-functional) TRAJ61 Yes No Ensembl:ENSG00000211831, GenAtlas:TRAJ61, GeneCard:TRAJ61, HGNC:HGNC:12094, NCBI Gene:28694, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22944306 22944365 22475316 22475375 +PA36777 28748 HGNC:12095 ENSG00000211882 T cell receptor alpha joining 7 TRAJ7 Yes No Ensembl:ENSG00000211882, GenAtlas:TRAJ7, GeneCard:TRAJ7, HGNC:HGNC:12095, NCBI Gene:28748, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23006567 23006625 22537622 22537680 +PA36778 28747 HGNC:12096 ENSG00000211881 T cell receptor alpha joining 8 TRAJ8 Yes No Ensembl:ENSG00000211881, GenAtlas:TRAJ8, GeneCard:TRAJ8, HGNC:HGNC:12096, NCBI Gene:28747, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23005092 23005151 22536145 22536204 +PA36779 28746 HGNC:12097 ENSG00000211880 T cell receptor alpha joining 9 TRAJ9 Yes No Ensembl:ENSG00000211880, GenAtlas:TRAJ9, GeneCard:TRAJ9, HGNC:HGNC:12097, NCBI Gene:28746, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 23004502 23004562 22535554 22535614 +PA128394593 22906 HGNC:29947 ENSG00000182606 trafficking kinesin protein 1 TRAK1 """O-linked N-acetylglucosamine transferase interacting protein 106"", ""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""milton homolog 1 (Drosophila)"", ""trafficking protein, kinesin binding 1""" KIAA1042, MILT1, OIP106 Yes No Comparative Toxicogenomics Database:22906, Ensembl:ENSG00000182606, GeneCard:TRAK1, HGNC:HGNC:29947, ModBase:Q9UPV9, NCBI Gene:22906, OMIM:608112, RefSeq DNA:NT_022517, RefSeq Protein:NP_001036111, RefSeq Protein:NP_055780, RefSeq RNA:NM_001042646, RefSeq RNA:NM_014965, UCSC Genome Browser:NM_014965, UniProtKB:Q9UPV9 No chr3 42055294 42267382 42013802 42225890 +PA24744 66008 HGNC:13206 ENSG00000115993 trafficking kinesin protein 2 TRAK2 """O-linked N-acetylglucosamine transferase interacting protein 98"", ""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""trafficking protein, kinesin binding 2""" ALS2CR3, CALS-C, GRIF-1, KIAA0549, MILT2, OIP98 Yes No Comparative Toxicogenomics Database:66008, Ensembl:ENSG00000115993, GenAtlas:TRAK2, GeneCard:TRAK2, HGNC:HGNC:13206, HumanCyc Gene:HS03964, ModBase:O60296, NCBI Gene:66008, OMIM:607334, RefSeq DNA:NT_005403, RefSeq Protein:NP_055864, RefSeq RNA:NM_015049, UCSC Genome Browser:NM_015049, UniProtKB:O60296 No chr2 202241930 202316319 201377207 201451596 +PA134955644 23471 HGNC:20568 ENSG00000067167 translocation associated membrane protein 1 TRAM1 TRAM, TRAMP Yes No Comparative Toxicogenomics Database:23471, Ensembl:ENSG00000067167, GeneCard:TRAM1, HGNC:HGNC:20568, HumanCyc Gene:HS00900, NCBI Gene:23471, OMIM:605190, RefSeq DNA:NT_008183, RefSeq Protein:NP_055109, RefSeq RNA:NM_014294, UniProtKB:Q15629, UniProtKB:Q6FHL3 No chr8 71485453 71520694 70573218 70608459 +PA134911361 133022 HGNC:28371 ENSG00000174599 translocation associated membrane protein 1 like 1 TRAM1L1 translocation associated membrane protein 1-like 1 MGC26568 Yes No Ensembl:ENSG00000174599, GeneCard:TRAM1L1, HGNC:HGNC:28371, NCBI Gene:133022, RefSeq DNA:NT_016354, RefSeq Protein:NP_689615, RefSeq RNA:NM_152402, UniProtKB:Q8N609 No chr4 118004710 118006736 117083554 117085580 +PA128394555 9697 HGNC:16855 ENSG00000065308 translocation associated membrane protein 2 TRAM2 KIAA0057 Yes No Comparative Toxicogenomics Database:9697, Ensembl:ENSG00000065308, GeneCard:TRAM2, HGNC:HGNC:16855, HumanCyc Gene:HS00835, NCBI Gene:9697, OMIM:608485, RefSeq DNA:NT_007592, RefSeq Protein:NP_036420, RefSeq RNA:NM_012288, UCSC Genome Browser:NM_012288, UniProtKB:Q15035 No chr6 52362200 52441862 52497402 52577064 +PA165698606 9881 HGNC:29011 ENSG00000168016 tetratricopeptide repeat and ankyrin repeat containing 1 TRANK1 lupus brain antigen 1 KIAA0342, LBA1 Yes No Ensembl:ENSG00000168016, GeneCard:TRANK1, HGNC:HGNC:29011, NCBI Gene:9881, RefSeq DNA:NT_022517, RefSeq Protein:NP_055646, RefSeq Protein:XP_047357, RefSeq Protein:XP_945720, RefSeq RNA:NM_014831, RefSeq RNA:XM_047357, RefSeq RNA:XM_940627, UniProtKB:O15050 No chr3 36868308 36986548 36826817 36945662 +PA36781 10131 HGNC:16264 ENSG00000126602 TNF receptor associated protein 1 TRAP1 TNF receptor-associated protein 1 HSP75, HSP90L Yes No Comparative Toxicogenomics Database:10131, Ensembl:ENSG00000126602, GenAtlas:TRAP1, GeneCard:TRAP1, HGNC:HGNC:16264, HumanCyc Gene:HS05037, ModBase:Q12931, NCBI Gene:10131, OMIM:606219, RefSeq DNA:NT_010393, RefSeq Protein:NP_057376, RefSeq RNA:NM_016292, UniProtKB:Q12931 No chr16 3708038 3767598 3658037 3717597 +PA134988492 58485 HGNC:19894 ENSG00000170043 trafficking protein particle complex subunit 1 TRAPPC1 trafficking protein particle complex 1 BET5, MUM2 Yes No Ensembl:ENSG00000170043, GeneCard:TRAPPC1, HGNC:HGNC:19894, HumanCyc Gene:HS10061, ModBase:Q9Y5R8, NCBI Gene:58485, OMIM:610969, RefSeq DNA:NT_010718, RefSeq Protein:NP_001160093, RefSeq Protein:NP_067033, RefSeq RNA:NM_001166621, RefSeq RNA:NM_021210, RefSeq RNA:NR_030684, RefSeq RNA:NR_030697, UniProtKB:Q9Y5R8 No chr17 7833663 7835317 7930345 7931999 +PA162406870 7109 HGNC:11868 ENSG00000160218 trafficking protein particle complex subunit 10 TRAPPC10 TRAPP 130 kDa subunit, trafficking protein particle complex 10, trafficking protein particle complex subunit 130 EHOC-1, TMEM1, TRS130 Yes No Ensembl:ENSG00000160218, GeneCard:TRAPPC10, HGNC:HGNC:11868, HumanCyc Gene:HS08471, ModBase:P48553, NCBI Gene:7109, OMIM:602103, RefSeq DNA:NG_008658, RefSeq DNA:NT_011515, RefSeq Protein:NP_003265, RefSeq RNA:NM_003274, UniProtKB:P48553 No chr21 45432206 45526433 44012325 44106552 +PA162379849 60684 HGNC:25751 ENSG00000168538 trafficking protein particle complex subunit 11 TRAPPC11 foie gras homolog (zebrafish), gryzun homolog (Drosophila), trafficking protein particle complex 11 C4orf41, FLJ12716, foigr, gry Yes No Ensembl:ENSG00000168538, GeneCard:C4orf41, HGNC:HGNC:25751, HumanCyc Gene:HS15684, ModBase:Q9H8Q1, NCBI Gene:60684, RefSeq DNA:NT_016354, RefSeq Protein:NP_068761, RefSeq Protein:NP_951008, RefSeq RNA:NM_021942, RefSeq RNA:NM_199053, UniProtKB:Q7Z392 No chr4 184580420 184634747 183659267 183713594 +PA134944710 51112 HGNC:24284 ENSG00000171853 trafficking protein particle complex subunit 12 TRAPPC12 trafficking protein particle complex 12 CGI-87, TTC-15, TTC15 Yes No Ensembl:ENSG00000171853, GeneCard:TTC15, HGNC:HGNC:24284, HumanCyc Gene:HS16032, ModBase:Q8WVT3, NCBI Gene:51112, RefSeq DNA:NT_022221, RefSeq Protein:NP_057114, RefSeq RNA:NM_016030, UniProtKB:Q8N9N0, UniProtKB:Q8WVT3 No chr2 3383446 3483342 3379245 3479571 +PA162380280 80006 HGNC:25828 ENSG00000113597 trafficking protein particle complex subunit 13 TRAPPC13 Trs65-related, trafficking protein particle complex 13 C5orf44, FLJ13611, FLJ26957, MGC48585 Yes No Ensembl:ENSG00000113597, GeneCard:C5orf44, HGNC:HGNC:25828, HumanCyc Gene:HS12798, ModBase:A5PLN9, NCBI Gene:80006, RefSeq DNA:NT_006713, RefSeq Protein:NP_001087224, RefSeq Protein:NP_001087225, RefSeq Protein:NP_079217, RefSeq RNA:NM_001093755, RefSeq RNA:NM_001093756, RefSeq RNA:NM_024941, RefSeq RNA:NR_003545, UniProtKB:A5PLN9 No chr5 64920558 64961954 65624731 65666136 +PA166352235 55262 HGNC:25604 trafficking protein particle complex subunit 14 TRAPPC14 C7orf43, MAP11 FLJ10925 Yes No HGNC:HGNC:25604, NCBI Gene:55262 No 0 0 0 0 +PA35631 6399 HGNC:23068 ENSG00000196459 trafficking protein particle complex subunit 2 TRAPPC2 trafficking protein particle complex 2 MIP-2A, SEDL, SEDT, TRS20, ZNF547L, hYP38334 Yes No Comparative Toxicogenomics Database:6399, Ensembl:ENSG00000196459, GenAtlas:TRAPPC2, GeneCard:TRAPPC2, HGNC:HGNC:23068, ModBase:O14582, NCBI Gene:6399, OMIM:300202, OMIM:313400, RefSeq DNA:NG_011555, RefSeq DNA:NT_167197, RefSeq Protein:NP_001011658, RefSeq Protein:NP_001122307, RefSeq Protein:NP_055378, RefSeq RNA:NM_001011658, RefSeq RNA:NM_001128835, RefSeq RNA:NM_014563, UCSC Genome Browser:NM_014563, UniProtKB:O14582, UniProtKB:Q6IBE5 No chrX 13730361 13752754 13712242 13734635 +PA35632 10597 HGNC:10710 ENSG00000256060 trafficking protein particle complex subunit 2B TRAPPC2B trafficking protein particle complex 2 pseudogene 1, trafficking protein particle complex 2B MIP-2A, SEDLP, SEDLP1, TRAPPC2P1 Yes No Ensembl:ENSG00000256060, GenAtlas:SEDLP, GeneCard:TRAPPC2P1, HGNC:HGNC:10710, NCBI Gene:10597, RefSeq DNA:NT_011109, RefSeq RNA:NM_001355204 No chr19 57874879 57876721 57363511 57365353 +PA145147879 51693 HGNC:30887 ENSG00000167515 trafficking protein particle complex subunit 2L TRAPPC2L trafficking protein particle complex 2 like, trafficking protein particle complex 2-like HSPC176 Yes No Ensembl:ENSG00000167515, GeneCard:TRAPPC2L, HGNC:HGNC:30887, HumanCyc Gene:HS15558, ModBase:Q9UL33, NCBI Gene:51693, OMIM:610970, RefSeq DNA:NT_010542, RefSeq Protein:NP_057293, RefSeq RNA:NM_016209, UniProtKB:Q9UL33 No chr16 88923465 88929086 88856220 88862686 +PA35633 27196 HGNC:10711 ENSG00000253124 trafficking protein particle complex 2 pseudogene 2 TRAPPC2P2 Yes No Ensembl:ENSG00000253124, GenAtlas:SEDLP2, GeneCard:TRAPPC2P2, HGNC:HGNC:10711, NCBI Gene:27196, RefSeq DNA:NG_005354 No chr8 72360946 72361475 71448711 71449240 +PA35634 27195 HGNC:10712 ENSG00000224964 trafficking protein particle complex 2 pseudogene 3 TRAPPC2P3 Yes No Ensembl:ENSG00000224964, GenAtlas:SEDLP3, GeneCard:TRAPPC2P3, HGNC:HGNC:10712, NCBI Gene:27195, RefSeq DNA:NT_011875 No chrY 19908065 19912698 17796185 17800818 +PA35635 27194 HGNC:10713 ENSG00000232914 trafficking protein particle complex 2 pseudogene 4 TRAPPC2P4 Yes No Ensembl:ENSG00000232914, GenAtlas:SEDLP4, GeneCard:TRAPPC2P4, HGNC:HGNC:10713, NCBI Gene:27194, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 28050544 28061359 25904397 25915212 +PA35636 27193 HGNC:10714 ENSG00000225256 trafficking protein particle complex 2 pseudogene 5 TRAPPC2P5 Yes No Ensembl:ENSG00000225256, GenAtlas:SEDLP5, GeneCard:TRAPPC2P5, HGNC:HGNC:10714, NCBI Gene:27193, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 27845476 27853242 25699329 25707095 +PA35637 27192 HGNC:10715 trafficking protein particle complex 2 pseudogene 6 TRAPPC2P6 Yes No GenAtlas:SEDLP6, GeneCard:TRAPPC2P6, HGNC:HGNC:10715, NCBI Gene:27192 No chrY +PA134972272 27095 HGNC:19942 ENSG00000054116 trafficking protein particle complex subunit 3 TRAPPC3 trafficking protein particle complex 3 BET3 Yes No Ensembl:ENSG00000054116, GeneCard:TRAPPC3, HGNC:HGNC:19942, HumanCyc Gene:HS00663, ModBase:O43617, NCBI Gene:27095, OMIM:610955, RefSeq DNA:NT_032977, RefSeq Protein:NP_055223, RefSeq RNA:NM_014408, UniProtKB:O43617 No chr1 36602170 36621654 36136569 36156053 +PA134866254 100128327 HGNC:21090 ENSG00000173626 trafficking protein particle complex subunit 3L TRAPPC3L trafficking protein particle complex 3 like, trafficking protein particle complex 3-like BET3L, FLJ11180, bA259P20.2 Yes No Ensembl:ENSG00000173626, GeneCard:BET3L, HGNC:HGNC:21090, ModBase:Q5T215, NCBI Gene:100128327, RefSeq DNA:NT_025741, RefSeq Protein:NP_001132916, RefSeq RNA:NM_001139444, UniProtKB:Q5T215 No chr6 116817646 116866773 116496483 116545610 +PA134906910 51399 HGNC:19943 ENSG00000196655 trafficking protein particle complex subunit 4 TRAPPC4 trafficking protein particle complex 4 PTD009, SBDN, TRS23 Yes No Comparative Toxicogenomics Database:51399, Ensembl:ENSG00000196655, GeneCard:TRAPPC4, HGNC:HGNC:19943, ModBase:Q9Y296, NCBI Gene:51399, OMIM:610971, RefSeq DNA:NT_033899, RefSeq Protein:NP_057230, RefSeq RNA:NM_016146, UniProtKB:Q9Y296 No chr11 118889241 118894384 119018469 119023674 +PA134875218 126003 HGNC:23067 ENSG00000181029 trafficking protein particle complex subunit 5 TRAPPC5 trafficking protein particle complex 5 MGC52424, TRS31 Yes No Ensembl:ENSG00000181029, GeneCard:TRAPPC5, HGNC:HGNC:23067, ModBase:Q8IUR0, NCBI Gene:126003, RefSeq DNA:NT_077812, RefSeq Protein:NP_001035926, RefSeq Protein:NP_001035927, RefSeq Protein:NP_777554, RefSeq RNA:NM_001042461, RefSeq RNA:NM_001042462, RefSeq RNA:NM_174894, UniProtKB:Q8IUR0 No chr19 7745707 7747748 7680821 7682862 +PA134963625 79090 HGNC:23069 ENSG00000007255 trafficking protein particle complex subunit 6A TRAPPC6A trafficking protein particle complex 6A HSPC289, MGC2650, TRS33 Yes No Comparative Toxicogenomics Database:79090, Ensembl:ENSG00000007255, GeneCard:TRAPPC6A, HGNC:HGNC:23069, HumanCyc Gene:HS12021, ModBase:O75865, NCBI Gene:79090, OMIM:610396, RefSeq DNA:NT_011109, RefSeq Protein:NP_077013, RefSeq RNA:NM_024108, UniProtKB:O75865 No chr19 45666186 45681501 45162928 45178302 +PA134973191 122553 HGNC:23066 ENSG00000182400 trafficking protein particle complex subunit 6B TRAPPC6B trafficking protein particle complex 6B Yes No Ensembl:ENSG00000182400, GeneCard:TRAPPC6B, HGNC:HGNC:23066, ModBase:Q86SZ2, NCBI Gene:122553, OMIM:610397, RefSeq DNA:NT_026437, RefSeq Protein:NP_001073005, RefSeq Protein:NP_803235, RefSeq RNA:NM_001079537, RefSeq RNA:NM_177452, UniProtKB:Q86SZ2 No chr14 39617015 39639634 39147811 39170430 +PA165429149 22878 HGNC:29169 ENSG00000153339 trafficking protein particle complex subunit 8 TRAPPC8 general sporulation gene 1 homolog (S. cerevisiae), trafficking protein particle complex 8 GSG1, HsT2706, KIAA1012, TRS85 Yes No Ensembl:ENSG00000153339, GeneCard:TRAPPC8, HGNC:HGNC:29169, HumanCyc Gene:HS07905, ModBase:Q9Y2L5, NCBI Gene:22878, RefSeq DNA:NT_010966, RefSeq Protein:NP_055754, RefSeq RNA:NM_014939, UniProtKB:Q9Y2L5 No chr18 29409136 29523175 31829173 31943218 +PA162406921 83696 HGNC:30832 ENSG00000167632 trafficking protein particle complex subunit 9 TRAPPC9 TRAPP 120 kDa subunit, trafficking protein particle complex 9, tularik gene 1 IKBKBBP, KIAA1882, MRT13, NIBP, T1, TRS120 Yes No Ensembl:ENSG00000167632, GeneCard:TRAPPC9, HGNC:HGNC:30832, NCBI Gene:83696, OMIM:611966, OMIM:613192, RefSeq DNA:NG_016478, RefSeq DNA:NT_008046, RefSeq Protein:NP_001153844, RefSeq Protein:NP_113654, RefSeq RNA:NM_001160372, RefSeq RNA:NM_031466, UniProtKB:Q96Q05 No chr8 140740324 141468678 139727725 140458579 +PA134868023 286753 HGNC:29592 ENSG00000184811 trafficking regulator of GLUT4 (SLC2A4) 1 TRARG1 brain endothelial cell derived gene-1, dispanin subfamily B member 1, interferon induced transmembrane protein domain containing 3, located at seventeen p thirteen point three 1, tumor suppressor candidate 5 BEC-1, DSPB1, IFITMD3, LOST1, TUSC5 Yes No Ensembl:ENSG00000184811, GeneCard:TUSC5, HGNC:HGNC:29592, NCBI Gene:286753, OMIM:612211, RefSeq DNA:NT_010718, RefSeq Protein:NP_758955, RefSeq RNA:NM_172367, UniProtKB:Q8IXB3 No chr17 1182957 1204281 1279663 1300987 +PA128394655 50852 HGNC:30698 ENSG00000163519 T cell receptor associated transmembrane adaptor 1 TRAT1 HSPC062, TCRIM, TRIM Yes Yes Ensembl:ENSG00000163519, GeneCard:TRAT1, HGNC:HGNC:30698, HumanCyc Gene:HS08868, NCBI Gene:50852, OMIM:604962, RefSeq DNA:NT_005612, RefSeq Protein:NP_057472, RefSeq RNA:NM_016388, UCSC Genome Browser:NM_016388, UniProtKB:Q6PIZ9 No chr3 108541631 108573714 108822698 108855005 +PA36785 28676 HGNC:12103 ENSG00000211784 T cell receptor alpha variable 10 TRAV10 TCRAV10S1, TCRAV24S1 Yes No Ensembl:ENSG00000211784, GenAtlas:TRAV10, GeneCard:TRAV10, HGNC:HGNC:12103, NCBI Gene:28676, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22293672 22294239 21825508 21826075 +PA36783 28693 HGNC:12101 ENSG00000255569 T cell receptor alpha variable 1-1 TRAV1-1 TCRAV1S1, TCRAV7S1, TRAV11 Yes No Ensembl:ENSG00000255569, GenAtlas:TRAV1-1, GeneCard:TRAV1-1, HGNC:HGNC:12101, NCBI Gene:28693, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22090057 22090720 21621904 21622567 +PA36786 28675 HGNC:12104 ENSG00000256474 T cell receptor alpha variable 11 (pseudogene) TRAV11 Yes No Ensembl:ENSG00000256474, GenAtlas:TRAV11, GeneCard:TRAV11, HGNC:HGNC:12104, NCBI Gene:28675, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22297692 22298223 21829539 21830070 +PA36784 28692 HGNC:12102 ENSG00000256553 T cell receptor alpha variable 1-2 TRAV1-2 Yes No Ensembl:ENSG00000256553, GenAtlas:TRAV1-2, GeneCard:TRAV1-2, HGNC:HGNC:12102, NCBI Gene:28692, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22111193 22111806 21642973 21643586 +PA36787 28674 HGNC:12105 ENSG00000211785 T cell receptor alpha variable 12-1 TRAV12-1 Yes No Ensembl:ENSG00000211785, GenAtlas:TRAV12-1, GeneCard:TRAV12-1, HGNC:HGNC:12105, NCBI Gene:28674, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22309425 22309956 21841243 21841774 +PA36788 28673 HGNC:12106 ENSG00000211789 T cell receptor alpha variable 12-2 TRAV12-2 Yes No Ensembl:ENSG00000211789, GenAtlas:TRAV12-2, GeneCard:TRAV12-2, HGNC:HGNC:12106, NCBI Gene:28673, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22356139 22356682 21887959 21888502 +PA36789 28672 HGNC:12107 ENSG00000211794 T cell receptor alpha variable 12-3 TRAV12-3 TCRAV12S3, TCRAV2S2, TRAV123 Yes No Ensembl:ENSG00000211794, GenAtlas:TRAV12-3, GeneCard:TRAV12-3, HGNC:HGNC:12107, NCBI Gene:28672, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22433736 22434290 21965507 21966061 +PA36790 28671 HGNC:12108 ENSG00000211788 T cell receptor alpha variable 13-1 TRAV13-1 Yes No Ensembl:ENSG00000211788, GenAtlas:TRAV13-1, GeneCard:TRAV13-1, HGNC:HGNC:12108, NCBI Gene:28671, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22337043 22337546 21868862 21869365 +PA36791 28670 HGNC:12109 ENSG00000211791 T cell receptor alpha variable 13-2 TRAV13-2 Yes No Ensembl:ENSG00000211791, GenAtlas:TRAV13-2, GeneCard:TRAV13-2, HGNC:HGNC:12109, NCBI Gene:28670, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22386433 22386931 21918258 21918756 +PA36792 28669 HGNC:12110 ENSG00000211792 T cell receptor alpha variable 14/delta variable 4 TRAV14DV4 TCRAV6S1-hDV104S1, TRAV14/DV4, hADV14S1 Yes No Ensembl:ENSG00000211792, GenAtlas:TRAV14DV4, GeneCard:TRAV14DV4, HGNC:HGNC:12110, NCBI Gene:28669, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22392314 22392827 21924138 21924651 +PA36793 28668 HGNC:12111 ENSG00000258482 T cell receptor alpha variable 15 (pseudogene) TRAV15 TCRAV15S1 Yes No Ensembl:ENSG00000258482, GenAtlas:TRAV15, GeneCard:TRAV15, HGNC:HGNC:12111, NCBI Gene:28668, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22418334 22418877 21950127 21950654 +PA36794 28667 HGNC:12112 ENSG00000211796 T cell receptor alpha variable 16 TRAV16 TCRAV16S1, TCRAV9S1 Yes No Ensembl:ENSG00000211796, GenAtlas:TRAV16, GeneCard:TRAV16, HGNC:HGNC:12112, NCBI Gene:28667, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22458735 22459177 21990496 21990938 +PA36795 28666 HGNC:12113 ENSG00000211797 T cell receptor alpha variable 17 TRAV17 TCRAV17S1, TCRAV3S1 Yes No Ensembl:ENSG00000211797, GenAtlas:TRAV17, GeneCard:TRAV17, HGNC:HGNC:12113, NCBI Gene:28666, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22465925 22466407 21997686 21998168 +PA36796 28665 HGNC:12114 ENSG00000211798 T cell receptor alpha variable 18 TRAV18 TCRAV18S1 Yes No Ensembl:ENSG00000211798, GenAtlas:TRAV18, GeneCard:TRAV18, HGNC:HGNC:12114, NCBI Gene:28665, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22471450 22471912 22003211 22003673 +PA36797 28664 HGNC:12115 ENSG00000211799 T cell receptor alpha variable 19 TRAV19 TCRAV12S1, TCRAV19S1 Yes No Ensembl:ENSG00000211799, GenAtlas:TRAV19, GeneCard:TRAV19, HGNC:HGNC:12115, NCBI Gene:28664, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22475868 22476420 22007629 22008181 +PA36798 28691 HGNC:12116 ENSG00000211776 T cell receptor alpha variable 2 TRAV2 Yes No Ensembl:ENSG00000211776, GenAtlas:TRAV2, GeneCard:TRAV2, HGNC:HGNC:12116, NCBI Gene:28691, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22180554 22181066 21712331 21712843 +PA36799 28663 HGNC:12117 ENSG00000211800 T cell receptor alpha variable 20 TRAV20 Yes No Ensembl:ENSG00000211800, GenAtlas:TRAV20, GeneCard:TRAV20, HGNC:HGNC:12117, NCBI Gene:28663, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22508909 22509399 22040663 22041153 +PA36800 28662 HGNC:12118 ENSG00000211801 T cell receptor alpha variable 21 TRAV21 Yes No Ensembl:ENSG00000211801, GenAtlas:TRAV21, GeneCard:TRAV21, HGNC:HGNC:12118, NCBI Gene:28662, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22520780 22521315 22052521 22053056 +PA36801 28661 HGNC:12119 ENSG00000211802 T cell receptor alpha variable 22 TRAV22 TCRAV13S1, TCRAV22S1 Yes No Ensembl:ENSG00000211802, GenAtlas:TRAV22, GeneCard:TRAV22, HGNC:HGNC:12119, NCBI Gene:28661, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22538953 22539471 22070690 22071208 +PA36802 28660 HGNC:12120 ENSG00000211803 T cell receptor alpha variable 23/delta variable 6 TRAV23DV6 TCRAV17S1, TRAV23/DV6 Yes No Ensembl:ENSG00000211803, GenAtlas:TRAV23DV6, GeneCard:TRAV23DV6, HGNC:HGNC:12120, NCBI Gene:28660, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22554729 22555238 22086452 22086961 +PA36803 28659 HGNC:12121 ENSG00000211805 T cell receptor alpha variable 24 TRAV24 Yes No Ensembl:ENSG00000211805, GenAtlas:TRAV24, GeneCard:TRAV24, HGNC:HGNC:12121, NCBI Gene:28659, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22573620 22574123 22105343 22105846 +PA36804 28658 HGNC:12122 ENSG00000211806 T cell receptor alpha variable 25 TRAV25 TCRAV25S1, TCRAV32S1 Yes No Ensembl:ENSG00000211806, GenAtlas:TRAV25, GeneCard:TRAV25, HGNC:HGNC:12122, NCBI Gene:28658, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22580376 22580984 22112423 22113031 +PA36805 28657 HGNC:12123 ENSG00000211807 T cell receptor alpha variable 26-1 TRAV26-1 Yes No Ensembl:ENSG00000211807, GenAtlas:TRAV26-1, GeneCard:TRAV26-1, HGNC:HGNC:12123, NCBI Gene:28657, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22591485 22592243 22123527 22124285 +PA36806 28656 HGNC:12124 ENSG00000211812 T cell receptor alpha variable 26-2 TRAV26-2 TCRAV26S2, TCRAV4S1, TRAV262 Yes No Ensembl:ENSG00000211812, GenAtlas:TRAV26-2, GeneCard:TRAV26-2, HGNC:HGNC:12124, NCBI Gene:28656, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22670477 22671262 22202583 22203368 +PA36807 28655 HGNC:12125 ENSG00000211809 T cell receptor alpha variable 27 TRAV27 Yes No Ensembl:ENSG00000211809, GenAtlas:TRAV27, GeneCard:TRAV27, HGNC:HGNC:12125, NCBI Gene:28655, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22616046 22616587 22148092 22148633 +PA36808 28654 HGNC:12126 ENSG00000258835 T cell receptor alpha variable 28 (pseudogene) TRAV28 Yes No Ensembl:ENSG00000258835, GenAtlas:TRAV28, GeneCard:TRAV28, HGNC:HGNC:12126, NCBI Gene:28654, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22623012 22623571 22155079 22155638 +PA36809 28653 HGNC:12127 ENSG00000211810 T cell receptor alpha variable 29/delta variable 5 (gene/pseudogene) TRAV29DV5 TRAV29/DV5 Yes No Ensembl:ENSG00000211810, GenAtlas:TRAV29DV5, GeneCard:TRAV29DV5, HGNC:HGNC:12127, NCBI Gene:28653, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22631245 22631766 22163349 22163870 +PA36810 28690 HGNC:12128 ENSG00000211777 T cell receptor alpha variable 3 (gene/pseudogene) TRAV3 Yes No Ensembl:ENSG00000211777, GenAtlas:TRAV3, GeneCard:TRAV3, HGNC:HGNC:12128, NCBI Gene:28690, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22192136 22192568 21723889 21724321 +PA36811 28652 HGNC:12129 ENSG00000259092 T cell receptor alpha variable 30 TRAV30 Yes No Ensembl:ENSG00000259092, GenAtlas:TRAV30, GeneCard:TRAV30, HGNC:HGNC:12129, NCBI Gene:28652, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22636325 22636884 22168429 22168988 +PA36812 28651 HGNC:12130 ENSG00000249048 T cell receptor alpha variable 31 (pseudogene) TRAV31 TCRAV31S1 Yes No Ensembl:ENSG00000249048, GenAtlas:TRAV31, GeneCard:TRAV31, HGNC:HGNC:12130, NCBI Gene:28651, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22645170 22645761 22177273 22177864 +PA36813 28650 HGNC:12131 ENSG00000258905 T cell receptor alpha variable 32 (pseudogene) TRAV32 Yes No Ensembl:ENSG00000258905, GenAtlas:TRAV32, GeneCard:TRAV32, HGNC:HGNC:12131, NCBI Gene:28650, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22653458 22653957 22185562 22186061 +PA36814 28649 HGNC:12132 ENSG00000258812 T cell receptor alpha variable 33 (pseudogene) TRAV33 C14orf12 Yes No Ensembl:ENSG00000258812, GenAtlas:TRAV33, GeneCard:TRAV33, HGNC:HGNC:12132, NCBI Gene:28649, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22658052 22658608 22190158 22190714 +PA36815 28648 HGNC:12133 ENSG00000211813 T cell receptor alpha variable 34 TRAV34 TCRAV26S1, TCRAV34S1 Yes No Ensembl:ENSG00000211813, GenAtlas:TRAV34, GeneCard:TRAV34, HGNC:HGNC:12133, NCBI Gene:28648, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22675430 22676025 22207534 22208129 +PA36816 28647 HGNC:12134 ENSG00000211814 T cell receptor alpha variable 35 TRAV35 TCRAV25S1, TCRAV35S1 Yes No Ensembl:ENSG00000211814, GenAtlas:TRAV35, GeneCard:TRAV35, HGNC:HGNC:12134, NCBI Gene:28647, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22689792 22690371 22221896 22222475 +PA36817 28646 HGNC:12135 ENSG00000211815 T cell receptor alpha variable 36/delta variable 7 TRAV36DV7 TRAV36/DV7 Yes No Ensembl:ENSG00000211815, GenAtlas:TRAV36DV7, GeneCard:TRAV36DV7, HGNC:HGNC:12135, NCBI Gene:28646, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22694657 22695149 22226762 22227254 +PA36818 28645 HGNC:12136 ENSG00000259068 T cell receptor alpha variable 37 (pseudogene) TRAV37 Yes No Ensembl:ENSG00000259068, GenAtlas:TRAV37, GeneCard:TRAV37, HGNC:HGNC:12136, NCBI Gene:28645, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22733632 22735056 22265749 22267173 +PA36819 28644 HGNC:12137 ENSG00000211816 T cell receptor alpha variable 38-1 TRAV38-1 TCRAV14S2, TCRAV38S1, TRAV381 Yes No Ensembl:ENSG00000211816, GenAtlas:TRAV38-1, GeneCard:TRAV38-1, HGNC:HGNC:12137, NCBI Gene:28644, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22739854 22740446 22271971 22272563 +PA36820 28643 HGNC:12138 ENSG00000211817 T cell receptor alpha variable 38-2/delta variable 8 TRAV38-2DV8 T cell receptor alpha/delta variable 38-2/DV8 TCRAV14S1, TRAV38-2/DV8, TRAV382DV8, hADV38S2 Yes No Ensembl:ENSG00000211817, GenAtlas:TRAV38-2DV8, GeneCard:TRAV38-2DV8, HGNC:HGNC:12138, NCBI Gene:28643, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22749034 22749631 22281151 22281748 +PA36821 28642 HGNC:12139 ENSG00000211818 T cell receptor alpha variable 39 TRAV39 TCRAV27S1, TCRAV39S1 Yes No Ensembl:ENSG00000211818, GenAtlas:TRAV39, GeneCard:TRAV39, HGNC:HGNC:12139, NCBI Gene:28642, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22771939 22772438 22304054 22304553 +PA36822 28689 HGNC:12140 ENSG00000211778 T cell receptor alpha variable 4 TRAV4 TCRAV20S1, TCRAV4S1 Yes No Ensembl:ENSG00000211778, GenAtlas:TRAV4, GeneCard:TRAV4, HGNC:HGNC:12140, NCBI Gene:28689, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22204501 22205264 21736219 21736982 +PA36823 28641 HGNC:12141 ENSG00000211819 T cell receptor alpha variable 40 TRAV40 TCRAV31S1, TCRAV40S1 Yes No Ensembl:ENSG00000211819, GenAtlas:TRAV40, GeneCard:TRAV40, HGNC:HGNC:12141, NCBI Gene:28641, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22782922 22783351 22314490 22314919 +PA36824 28640 HGNC:12142 ENSG00000211820 T cell receptor alpha variable 41 TRAV41 TCRAV19S1, TCRAV41S1 Yes No Ensembl:ENSG00000211820, GenAtlas:TRAV41, GeneCard:TRAV41, HGNC:HGNC:12142, NCBI Gene:28640, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22788620 22789123 22320188 22320691 +PA36825 28688 HGNC:12143 ENSG00000211779 T cell receptor alpha variable 5 TRAV5 Yes No Ensembl:ENSG00000211779, GenAtlas:TRAV5, GeneCard:TRAV5, HGNC:HGNC:12143, NCBI Gene:28688, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22217474 22217989 21749190 21749705 +PA36826 6956 HGNC:12144 ENSG00000211780 T cell receptor alpha variable 6 TRAV6 Yes No Ensembl:ENSG00000211780, GenAtlas:TRAV6, GeneCard:TRAV6, HGNC:HGNC:12144, NCBI Gene:6956, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22236793 22237320 21768553 21769080 +PA36827 28686 HGNC:12145 ENSG00000211781 T cell receptor alpha variable 7 TRAV7 Yes No Ensembl:ENSG00000211781, GenAtlas:TRAV7, GeneCard:TRAV7, HGNC:HGNC:12145, NCBI Gene:28686, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22251210 22251720 21782993 21783503 +PA36828 28685 HGNC:12146 ENSG00000211782 T cell receptor alpha variable 8-1 TRAV8-1 Yes No Ensembl:ENSG00000211782, GenAtlas:TRAV8-1, GeneCard:TRAV8-1, HGNC:HGNC:12146, NCBI Gene:28685, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22265591 22266058 21797419 21797886 +PA36829 28684 HGNC:12147 ENSG00000211786 T cell receptor alpha variable 8-2 TRAV8-2 Yes No Ensembl:ENSG00000211786, GenAtlas:TRAV8-2, GeneCard:TRAV8-2, HGNC:HGNC:12147, NCBI Gene:28684, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22314944 22315403 21846762 21847221 +PA36830 28683 HGNC:12148 ENSG00000211787 T cell receptor alpha variable 8-3 TRAV8-3 Yes No Ensembl:ENSG00000211787, GenAtlas:TRAV8-3, GeneCard:TRAV8-3, HGNC:HGNC:12148, NCBI Gene:28683, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22320735 22321183 21852558 21853006 +PA36831 28682 HGNC:12149 ENSG00000211790 T cell receptor alpha variable 8-4 TRAV8-4 Yes No Ensembl:ENSG00000211790, GenAtlas:TRAV8-4, GeneCard:TRAV8-4, HGNC:HGNC:12149, NCBI Gene:28682, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22362741 22363210 21894561 21895030 +PA36832 28681 HGNC:12150 ENSG00000256379 T cell receptor alpha variable 8-5 (pseudogene) TRAV8-5 TCRAV8S5, TRAV85 Yes No Ensembl:ENSG00000256379, GenAtlas:TRAV8-5, GeneCard:TRAV8-5, HGNC:HGNC:12150, NCBI Gene:28681, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22371257 22372778 21903077 21904598 +PA36833 28680 HGNC:12151 ENSG00000211795 T cell receptor alpha variable 8-6 TRAV8-6 Yes No Ensembl:ENSG00000211795, GenAtlas:TRAV8-6, GeneCard:TRAV8-6, HGNC:HGNC:12151, NCBI Gene:28680, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22446919 22447360 21978679 21979120 +PA36834 28679 HGNC:12152 ENSG00000211808 T cell receptor alpha variable 8-7 (non-functional) TRAV8-7 Yes No Ensembl:ENSG00000211808, GenAtlas:TRAV8-7, GeneCard:TRAV8-7, HGNC:HGNC:12152, NCBI Gene:28679, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22600515 22600996 22132553 22133034 +PA36835 28678 HGNC:12153 ENSG00000211783 T cell receptor alpha variable 9-1 TRAV9-1 Yes No Ensembl:ENSG00000211783, GenAtlas:TRAV9-1, GeneCard:TRAV9-1, HGNC:HGNC:12153, NCBI Gene:28678, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22279674 22280149 21811502 21811977 +PA36836 28677 HGNC:12154 ENSG00000211793 T cell receptor alpha variable 9-2 TRAV9-2 Yes No Ensembl:ENSG00000211793, GenAtlas:TRAV9-2, GeneCard:TRAV9-2, HGNC:HGNC:12154, NCBI Gene:28677, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22409369 22409848 21941184 21941657 +PA36837 6957 HGNC:12155 T cell receptor beta locus TRB T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster TCRB, TRB@ Yes No GenAtlas:TRB@, GeneCard:TRB@, HGNC:HGNC:12155, ModBase:P04435, NCBI Gene:6957, OMIM:186930, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 141998851 142510972 142299011 142813287 +PA36838 28639 HGNC:12156 ENSG00000211751 T cell receptor beta constant 1 TRBC1 BV05S1J2.2, TCRBC1 Yes No Ensembl:ENSG00000211751, GenAtlas:TRBC1, GeneCard:TRBC1, HGNC:HGNC:12156, NCBI Gene:28639, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 994738 996185 142791694 142793141 +PA36839 28638 HGNC:12157 ENSG00000211772 T cell receptor beta constant 2 TRBC2 TCRBC2 Yes No Ensembl:ENSG00000211772, GenAtlas:TRBC2, GeneCard:TRBC2, HGNC:HGNC:12157, NCBI Gene:28638, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142498725 142500213 142801041 142802529 +PA36840 28637 HGNC:12158 ENSG00000282431 T cell receptor beta diversity 1 TRBD1 TCRBD1 Yes No Ensembl:ENSG00000282431, GenAtlas:TRBD1, GeneCard:TRBD1, HGNC:HGNC:12158, NCBI Gene:28637, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142494022 142494030 142786213 142786224 +PA36841 28636 HGNC:12159 T cell receptor beta diversity 2 TRBD2 TCRBD2 Yes No GenAtlas:TRBD2, GeneCard:TRBD2, HGNC:HGNC:12159, NCBI Gene:28636, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 998749 998764 142795705 142795720 +PA36842 28635 HGNC:12162 ENSG00000282320 T cell receptor beta joining 1-1 TRBJ1-1 TCRBJ1S1, TRBJ11 Yes No Ensembl:ENSG00000282320, GenAtlas:TRBJ1-1, GeneCard:TRBJ1-1, HGNC:HGNC:12162, NCBI Gene:28635, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 989924 989971 142786880 142786927 +PA36843 28634 HGNC:12163 ENSG00000282420 T cell receptor beta joining 1-2 TRBJ1-2 TCRBJ1S2, TRBJ12 Yes No Ensembl:ENSG00000282420, GenAtlas:TRBJ1-2, GeneCard:TRBJ1-2, HGNC:HGNC:12163, NCBI Gene:28634, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 990061 990108 142787017 142787064 +PA36844 28633 HGNC:12164 ENSG00000282133 T cell receptor beta joining 1-3 TRBJ1-3 TCRBJ1S3, TRBJ13 Yes No Ensembl:ENSG00000282133, GenAtlas:TRBJ1-3, GeneCard:TRBJ1-3, HGNC:HGNC:12164, NCBI Gene:28633, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 990674 990723 142787630 142787679 +PA36845 28632 HGNC:12165 ENSG00000281958 T cell receptor beta joining 1-4 TRBJ1-4 TCRBJ1S4, TRBJ14 Yes No Ensembl:ENSG00000281958, GenAtlas:TRBJ1-4, GeneCard:TRBJ1-4, HGNC:HGNC:12165, NCBI Gene:28632, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 991269 991319 142788225 142788275 +PA36846 28631 HGNC:12166 ENSG00000282173 T cell receptor beta joining 1-5 TRBJ1-5 TCRBJ1S5, TRBJ15 Yes No Ensembl:ENSG00000282173, GenAtlas:TRBJ1-5, GeneCard:TRBJ1-5, HGNC:HGNC:12166, NCBI Gene:28631, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 991542 991591 142788498 142788547 +PA36847 28630 HGNC:12167 ENSG00000282780 T cell receptor beta joining 1-6 TRBJ1-6 TCRBJ1S6, TRBJ16 Yes No Ensembl:ENSG00000282780, GenAtlas:TRBJ1-6, GeneCard:TRBJ1-6, HGNC:HGNC:12167, NCBI Gene:28630, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 992032 992084 142788988 142789040 +PA36848 28629 HGNC:12168 ENSG00000211764 T cell receptor beta joining 2-1 TRBJ2-1 TCRBJ2S1, TRBJ21 Yes No Ensembl:ENSG00000211764, GenAtlas:TRBJ2-1, GeneCard:TRBJ2-1, HGNC:HGNC:12168, NCBI Gene:28629, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142494049 142494098 142796365 142796414 +PA36849 28628 HGNC:12169 ENSG00000211765 T cell receptor beta joining 2-2 TRBJ2-2 TCRBJ2S2, TRBJ22 Yes No Ensembl:ENSG00000211765, GenAtlas:TRBJ2-2, GeneCard:TRBJ2-2, HGNC:HGNC:12169, NCBI Gene:28628, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142494244 142494294 142796560 142796610 +PA36850 28627 HGNC:12170 ENSG00000211766 T cell receptor beta joining 2-2P (non-functional) TRBJ2-2P TRBJ22P Yes No Ensembl:ENSG00000211766, GenAtlas:TRBJ2-2P, GeneCard:TRBJ2-2P, HGNC:HGNC:12170, NCBI Gene:28627, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142494381 142494426 142796697 142796742 +PA36851 28626 HGNC:12171 ENSG00000211767 T cell receptor beta joining 2-3 TRBJ2-3 TCRBJ2S3, TRBJ23 Yes No Ensembl:ENSG00000211767, GenAtlas:TRBJ2-3, GeneCard:TRBJ2-3, HGNC:HGNC:12171, NCBI Gene:28626, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142494531 142494579 142796847 142796895 +PA36852 28625 HGNC:12172 ENSG00000211768 T cell receptor beta joining 2-4 TRBJ2-4 TCRBJ2S4, TRBJ24 Yes No Ensembl:ENSG00000211768, GenAtlas:TRBJ2-4, GeneCard:TRBJ2-4, HGNC:HGNC:12172, NCBI Gene:28625, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142494682 142494731 142796998 142797047 +PA36853 28624 HGNC:12173 ENSG00000211769 T cell receptor beta joining 2-5 TRBJ2-5 TCRBJ2S5, TRBJ25 Yes No Ensembl:ENSG00000211769, GenAtlas:TRBJ2-5, GeneCard:TRBJ2-5, HGNC:HGNC:12173, NCBI Gene:28624, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142494803 142494850 142797119 142797166 +PA36854 28623 HGNC:12174 ENSG00000211770 T cell receptor beta joining 2-6 TRBJ2-6 TCRBJ2S6, TRBJ26 Yes No Ensembl:ENSG00000211770, GenAtlas:TRBJ2-6, GeneCard:TRBJ2-6, HGNC:HGNC:12174, NCBI Gene:28623, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142494923 142494975 142797239 142797291 +PA36855 28622 HGNC:12175 ENSG00000211771 T cell receptor beta joining 2-7 TRBJ2-7 TCRBJ2S7, TRBJ27 Yes No Ensembl:ENSG00000211771, GenAtlas:TRBJ2-7, GeneCard:TRBJ2-7, HGNC:HGNC:12175, NCBI Gene:28622, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142495140 142495186 142797456 142797502 +PA36856 28621 HGNC:12176 ENSG00000242736 T cell receptor beta variable 1 (pseudogene) TRBV1 TCRBV1S1P, TCRBV27S1P Yes No Ensembl:ENSG00000242736, GenAtlas:TRBV1, GeneCard:TRBV1, HGNC:HGNC:12176, NCBI Gene:28621, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 141998851 141999300 142299011 142299460 +PA36857 28585 HGNC:12177 ENSG00000211717 T cell receptor beta variable 10-1(gene/pseudogene) TRBV10-1 TCRBV10S1, TCRBV12S2, TCRBV12S2A1T, TRBV101 Yes No Ensembl:ENSG00000211717, GenAtlas:TRBV10-1, GeneCard:TRBV10-1, HGNC:HGNC:12177, NCBI Gene:28585, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142231573 142232022 142399928 142400377 +PA36858 28584 HGNC:12178 ENSG00000229769 T cell receptor beta variable 10-2 TRBV10-2 TCRBV10S2, TCRBV12S3, TRBV102 Yes No Ensembl:ENSG00000229769, GenAtlas:TRBV10-2, GeneCard:TRBV10-2, HGNC:HGNC:12178, NCBI Gene:28584, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142206511 142206960 142425016 142425465 +PA36859 28583 HGNC:12179 ENSG00000275791 T cell receptor beta variable 10-3 TRBV10-3 TCRBV10S3, TCRBV12S1A1N2, TRBV103 Yes No Ensembl:ENSG00000275791, GenAtlas:TRBV10-3, GeneCard:TRBV10-3, HGNC:HGNC:12179, NCBI Gene:28583, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 728018 728467 142544236 142544685 +PA36860 28582 HGNC:12180 ENSG00000211720 T cell receptor beta variable 11-1 TRBV11-1 TCRBV11S1, TCRBV21S1, TRBV111 Yes No Ensembl:ENSG00000211720, GenAtlas:TRBV11-1, GeneCard:TRBV11-1, HGNC:HGNC:12180, NCBI Gene:28582, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142223820 142224267 142407689 142408136 +PA36861 28581 HGNC:12181 ENSG00000241657 T cell receptor beta variable 11-2 TRBV11-2 TCRBV11S2, TCRBV21S3A2N2T, TRBV112 Yes No Ensembl:ENSG00000241657, GenAtlas:TRBV11-2, GeneCard:TRBV11-2, HGNC:HGNC:12181, NCBI Gene:28581, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142197570 142198008 142433956 142434394 +PA36862 28580 HGNC:12182 ENSG00000276597 T cell receptor beta variable 11-3 TRBV11-3 TCRBV11S3, TCRBV21S2A2, TRBV113 Yes No Ensembl:ENSG00000276597, GenAtlas:TRBV11-3, GeneCard:TRBV11-3, HGNC:HGNC:12182, NCBI Gene:28580, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 738661 739098 142554881 142555318 +PA36863 28579 HGNC:12183 ENSG00000244661 T cell receptor beta variable 12-1 (pseudogene) TRBV12-1 TCRBV12S1, TCRBV8S4P, TRBV121 Yes No Ensembl:ENSG00000244661, GenAtlas:TRBV12-1, GeneCard:TRBV12-1, HGNC:HGNC:12183, NCBI Gene:28579, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142216290 142216732 142415224 142415666 +PA36864 28578 HGNC:12184 ENSG00000211739 T cell receptor beta variable 12-2 (pseudogene) TRBV12-2 TCRBV12S2, TCRBV8S5P, TRBV122 Yes No Ensembl:ENSG00000211739, GenAtlas:TRBV12-2, GeneCard:TRBV12-2, HGNC:HGNC:12184, NCBI Gene:28578, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142190638 142191080 142440883 142441325 +PA36865 28577 HGNC:12185 ENSG00000274752 T cell receptor beta variable 12-3 TRBV12-3 TCRBV12S3, TCRBV8S1, TRBV123 Yes No Ensembl:ENSG00000274752, GenAtlas:TRBV12-3, GeneCard:TRBV12-3, HGNC:HGNC:12185, NCBI Gene:28577, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 744248 744694 142560485 142560931 +PA36866 28576 HGNC:12186 ENSG00000276953 T cell receptor beta variable 12-4 TRBV12-4 TCRBV12S4, TCRBV8S2A1T, TRBV124 Yes No Ensembl:ENSG00000276953, GenAtlas:TRBV12-4, GeneCard:TRBV12-4, HGNC:HGNC:12186, NCBI Gene:28576, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 747559 748005 142563799 142564245 +PA36867 28575 HGNC:12187 ENSG00000275158 T cell receptor beta variable 12-5 TRBV12-5 TCRBV12S5, TCRBV8S3, TRBV125 Yes No Ensembl:ENSG00000275158, GenAtlas:TRBV12-5, GeneCard:TRBV12-5, HGNC:HGNC:12187, NCBI Gene:28575, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 764770 765216 142580981 142581427 +PA36868 28574 HGNC:12188 ENSG00000276405 T cell receptor beta variable 13 TRBV13 TCRBV13S1, TCRBV23S1A2T Yes No Ensembl:ENSG00000276405, GenAtlas:TRBV13, GeneCard:TRBV13, HGNC:HGNC:12188, NCBI Gene:28574, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 719611 720094 142535809 142536292 +PA36869 28573 HGNC:12189 ENSG00000275743 T cell receptor beta variable 14 TRBV14 TCRBV14S1, TCRBV16S1A1N1 Yes No Ensembl:ENSG00000275743, GenAtlas:TRBV14, GeneCard:TRBV14, HGNC:HGNC:12189, NCBI Gene:28573, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 771714 772146 142587927 142588359 +PA36870 28572 HGNC:12190 ENSG00000276819 T cell receptor beta variable 15 TRBV15 TCRBV15S1, TCRBV24S1A3T Yes No Ensembl:ENSG00000276819, GenAtlas:TRBV15, GeneCard:TRBV15, HGNC:HGNC:12190, NCBI Gene:28572, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 776792 777260 142593005 142593473 +PA36871 28571 HGNC:12191 ENSG00000275243 T cell receptor beta variable 16 (gene/pseudogene) TRBV16 TCRBV16S1, TCRBV25S1A2PT Yes No Ensembl:ENSG00000275243, GenAtlas:TRBV16, GeneCard:TRBV16, HGNC:HGNC:12191, NCBI Gene:28571, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 781803 782256 142598016 142598469 +PA36872 28570 HGNC:12192 ENSG00000277880 T cell receptor beta variable 17 (non-functional) TRBV17 TCRBV17S1, TCRBV26S1P Yes No Ensembl:ENSG00000277880, GenAtlas:TRBV17, GeneCard:TRBV17, HGNC:HGNC:12192, NCBI Gene:28570, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 785413 786145 142601628 142602360 +PA36873 28569 HGNC:12193 ENSG00000276557 T cell receptor beta variable 18 TRBV18 TCRBV18S1 Yes No Ensembl:ENSG00000276557, GenAtlas:TRBV18, GeneCard:TRBV18, HGNC:HGNC:12193, NCBI Gene:28569, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 799531 800149 142615797 142616415 +PA36874 28568 HGNC:12194 ENSG00000211746 T cell receptor beta variable 19 TRBV19 TCRBV17S1A1T, TCRBV19S1 Yes No Ensembl:ENSG00000211746, GenAtlas:TRBV19, GeneCard:TRBV19, HGNC:HGNC:12194, NCBI Gene:28568, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142326571 142327046 142619057 142619532 +PA36875 28620 HGNC:12195 ENSG00000226660 T cell receptor beta variable 2 TRBV2 TCRBV22S1A2N1T, TCRBV2S1 Yes No Ensembl:ENSG00000226660, GenAtlas:TRBV2, GeneCard:TRBV2, HGNC:HGNC:12195, NCBI Gene:28620, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142000821 142001255 142300998 142301432 +PA36876 28567 HGNC:12196 ENSG00000211747 T cell receptor beta variable 20-1 TRBV20-1 TCRBV20S1, TCRBV2S1, TRBV201 Yes No Ensembl:ENSG00000211747, GenAtlas:TRBV20-1, GeneCard:TRBV20-1, HGNC:HGNC:12196, NCBI Gene:28567, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142334241 142334913 142626727 142627399 +PA36877 6962 HGNC:12197 ENSG00000205274 T cell receptor beta variable 20/OR9-2 (non-functional) TRBV20OR9-2 T-cell receptor, beta variable region 2, orphon TCRBV20S2, TCRBV2S2O, TRBV20/OR9-2 Yes No Ensembl:ENSG00000205274, GenAtlas:TRBV20OR9-2, GeneCard:TRBV20OR9-2, HGNC:HGNC:12197, NCBI Gene:6962, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413 No chr9 33617843 33618506 33617845 33618508 +PA36878 28566 HGNC:12198 ENSG00000251578 T cell receptor beta variable 21-1 (pseudogene) TRBV21-1 TCRBV10S1P, TCRBV21S1, TRBV211 Yes No Ensembl:ENSG00000251578, GenAtlas:TRBV21-1, GeneCard:TRBV21-1, HGNC:HGNC:12198, NCBI Gene:28566, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142344427 142344887 142636924 142637384 +PA36879 6959 HGNC:12199 ENSG00000183938 T cell receptor beta variable 21/OR9-2 (pseudogene) TRBV21OR9-2 T-cell receptor, beta variable region 10, orphon TCRBV10S2O, TCRBV21S2, TRBV21/OR9-2 Yes No Ensembl:ENSG00000183938, GenAtlas:TRBV21OR9-2, GeneCard:TRBV21OR9-2, HGNC:HGNC:12199, NCBI Gene:6959, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413 No chr9 33629141 33629586 33629143 33629588 +PA36880 28565 HGNC:12200 ENSG00000240578 T cell receptor beta variable 22-1 (pseudogene) TRBV22-1 TCRBV22S1, TCRBV29S1P Yes No Ensembl:ENSG00000240578, GenAtlas:TRBV22, GeneCard:TRBV22-1, HGNC:HGNC:12200, NCBI Gene:28565, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142349249 142349699 142641746 142642196 +PA38665 246283 HGNC:18740 ENSG00000234122 T cell receptor beta variable 22/OR9-2 (pseudogene) TRBV22OR9-2 TCRBV22S2, TCRBV29S2O, TRBV22/OR9-2 Yes No Ensembl:ENSG00000234122, GenAtlas:TRBV22OR9-2, GeneCard:TRBV22OR9-2, HGNC:HGNC:18740, NCBI Gene:246283, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413 No chr9 33633851 33634300 33633853 33634302 +PA36881 28564 HGNC:12201 ENSG00000211749 T cell receptor beta variable 23-1 (non-functional) TRBV23-1 TCRBV19S1P, TCRBV23S1, TRBV231 Yes No Ensembl:ENSG00000211749, GenAtlas:TRBV23-1, GeneCard:TRBV23-1, HGNC:HGNC:12201, NCBI Gene:28564, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142353468 142353964 142645961 142646467 +PA36882 28552 HGNC:12202 ENSG00000229063 T cell receptor beta variable 23/OR9-2 (non-functional) TRBV23OR9-2 TCRBV19S2O, TCRBV23S2, TRBV23/OR9-2, TRBV23OR92 Yes No Ensembl:ENSG00000229063, GenAtlas:TRBV23OR9-2, GeneCard:TRBV23OR9-2, HGNC:HGNC:12202, NCBI Gene:28552, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413 No chr9 33638035 33638506 33638037 33638508 +PA36883 28563 HGNC:12203 ENSG00000211750 T cell receptor beta variable 24-1 TRBV24-1 TCRBV15S1, TCRBV24S1, TRBV241 Yes No Ensembl:ENSG00000211750, GenAtlas:TRBV24-1, GeneCard:TRBV24-1, HGNC:HGNC:12203, NCBI Gene:28563, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142364234 142364710 142656737 142657213 +PA36884 6961 HGNC:12204 ENSG00000215206 T cell receptor beta variable 24/OR9-2 (pseudogene) TRBV24OR9-2 T-cell receptor, beta variable region 15, orphan, T-cell receptor, beta variable region 15, orphon TCRBV15S2O, TCRBV24S2, TRBV24/OR9-2 Yes No Ensembl:ENSG00000215206, GenAtlas:TRBV24OR9-2, GeneCard:TRBV24OR9-2, HGNC:HGNC:12204, NCBI Gene:6961, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413 No chr9 33649129 33649611 33649131 33649613 +PA36885 28562 HGNC:12205 ENSG00000282499 T cell receptor beta variable 25-1 TRBV25-1 TCRBV11S1A1T, TCRBV25S1, TRBV251 Yes No Ensembl:ENSG00000282499, GenAtlas:TRBV25-1, GeneCard:TRBV25-1, HGNC:HGNC:12205, NCBI Gene:28562, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142378609 142379076 142670777 142671244 +PA36886 6960 HGNC:12206 ENSG00000240215 T cell receptor beta variable 25/OR9-2 (pseudogene) TRBV25OR9-2 T-cell receptor, beta variable region 11, orphon TCRBV11S2O, TCRBV25S2, TRBV25/OR9-2 Yes No Ensembl:ENSG00000240215, GenAtlas:TRBV25OR9-2, GeneCard:TRBV25OR9-2, HGNC:HGNC:12206, NCBI Gene:6960, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413 No chr9 33662201 33662662 33662203 33662664 +PA36887 28561 HGNC:12207 ENSG00000249912 T cell receptor beta variable 26 (pseudogene) TRBV26 TCRBV26S1, TCRBV28S1P Yes No Ensembl:ENSG00000249912, GenAtlas:TRBV26, GeneCard:TRBV26, HGNC:HGNC:12207, NCBI Gene:28561, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142403511 142403995 142695699 142696183 +PA38385 246285 HGNC:15485 ENSG00000231165 T cell receptor beta variable 26/OR9-2 (pseudogene) TRBV26OR9-2 TCRBV26S2, TCRBV28S2, TCRBV28S2O, TRBV26/OR9-2 Yes No Ensembl:ENSG00000231165, GenAtlas:TRBV26OR9-2, GeneCard:TRBV26OR9-2, HGNC:HGNC:15485, NCBI Gene:246285, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413 No chr9 33695578 33696059 33695580 33696061 +PA36888 28560 HGNC:12208 ENSG00000211752 T cell receptor beta variable 27 TRBV27 TCRBV14S1, TCRBV27S1 Yes No Ensembl:ENSG00000211752, GenAtlas:TRBV27, GeneCard:TRBV27, HGNC:HGNC:12208, NCBI Gene:28560, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142423216 142423688 142715389 142715861 +PA36889 28559 HGNC:12209 ENSG00000211753 T cell receptor beta variable 28 TRBV28 TCRBV28S1, TCRBV3S1 Yes No Ensembl:ENSG00000211753, GenAtlas:TRBV28, GeneCard:TRBV28, HGNC:HGNC:12209, NCBI Gene:28559, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142428504 142428984 142720680 142721160 +PA36890 28558 HGNC:12210 ENSG00000232869 T cell receptor beta variable 29-1 TRBV29-1 TCRBV29S1, TCRBV4S1A1T, TRBV291 Yes No Ensembl:ENSG00000232869, GenAtlas:TRBV29-1, GeneCard:TRBV29-1, HGNC:HGNC:12210, NCBI Gene:28558, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142448120 142448741 142740273 142740894 +PA36891 6958 HGNC:12211 ENSG00000223394 T cell receptor beta variable 29/OR9-2 (non-functional) TRBV29OR9-2 """T-cell receptor, beta cluster, variable region 4, orphon"", ""T-cell receptor, beta variable region 4, orphon""" TCRBV29S2, TCRBV4S2O, TRBV29/OR9-2 Yes No Ensembl:ENSG00000223394, GenAtlas:TRBV29OR9-2, GeneCard:TRBV29OR9-2, HGNC:HGNC:12211, NCBI Gene:6958, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413 No chr9 33786219 33786826 33786221 33786828 +PA36894 28557 HGNC:12214 ENSG00000237254 T cell receptor beta variable 30 (gene/pseudogene) TRBV30 TCRBV20S1A1N2, TCRBV30S1 Yes No Ensembl:ENSG00000237254, GenAtlas:TRBV30, GeneCard:TRBV30, HGNC:HGNC:12214, NCBI Gene:28557, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142510271 142510972 142812586 142813287 +PA36892 28619 HGNC:12212 ENSG00000237702 T cell receptor beta variable 3-1 TRBV3-1 TCRBV3S1, TCRBV9S1A1T, TRBV31 Yes No Ensembl:ENSG00000237702, GenAtlas:TRBV3-1, GeneCard:TRBV3-1, HGNC:HGNC:12212, NCBI Gene:28619, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142008412 142008871 142308589 142309048 +PA36893 28618 HGNC:12213 T cell receptor beta variable 3-2 (pseudogene) TRBV3-2 TCRBV3S2, TCRBV9S2A2PT, TRBV32 Yes No GenAtlas:TRBV3-2, GeneCard:TRBV3-2, HGNC:HGNC:12213, NCBI Gene:28618, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 501173 501632 321102 321561 +PA36895 28617 HGNC:12215 ENSG00000211710 T cell receptor beta variable 4-1 TRBV4-1 BV07S1J2.7, TCRBV4S1, TCRBV7S1A1N2T, TRBV41 Yes No Ensembl:ENSG00000211710, GenAtlas:TRBV4-1, GeneCard:TRBV4-1, HGNC:HGNC:12215, NCBI Gene:28617, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142013036 142013489 142313213 142313666 +PA36896 28616 HGNC:12216 ENSG00000211745 T cell receptor beta variable 4-2 TRBV4-2 TCRBV4S2, TCRBV7S3A2T, TRBV42 Yes No Ensembl:ENSG00000211745, GenAtlas:TRBV4-2, GeneCard:TRBV4-2, HGNC:HGNC:12216, NCBI Gene:28616, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142045363 142045816 142345532 142345985 +PA36897 28615 HGNC:12217 T cell receptor beta variable 4-3 TRBV4-3 TCRBV4S3, TCRBV7S2A1N4T, TRBV43 Yes No GenAtlas:TRBV4-3, GeneCard:TRBV4-3, HGNC:HGNC:12217, NCBI Gene:28615, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 504632 505085 324561 325014 +PA36898 28614 HGNC:12218 ENSG00000211734 T cell receptor beta variable 5-1 TRBV5-1 TCRBV5S1, TCRBV5S1A1T, TRBV51 Yes No Ensembl:ENSG00000211734, GenAtlas:TRBV5-1, GeneCard:TRBV5-1, HGNC:HGNC:12218, NCBI Gene:28614, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142020894 142021363 142321075 142321544 +PA36899 28613 HGNC:12219 ENSG00000242771 T cell receptor beta variable 5-2 (pseudogene) TRBV5-2 TCRBV31S1, TCRBV5S2P, TRBV52 Yes No Ensembl:ENSG00000242771, GenAtlas:TRBV5-2, GeneCard:TRBV5-2, HGNC:HGNC:12219, NCBI Gene:28613, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142259058 142259498 142372473 142372913 +PA36900 28612 HGNC:12220 ENSG00000211715 T cell receptor beta variable 5-3 (non-functional) TRBV5-3 TCRBV5S3, TCRBV5S5P, TRBV53 Yes No Ensembl:ENSG00000211715, GenAtlas:TRBV5-3, GeneCard:TRBV5-3, HGNC:HGNC:12220, NCBI Gene:28612, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142242281 142242747 142389202 142389668 +PA36901 28611 HGNC:12221 ENSG00000230099 T cell receptor beta variable 5-4 TRBV5-4 TCRBV5S4, TCRBV5S6A3N2T, TRBV54 Yes No Ensembl:ENSG00000230099, GenAtlas:TRBV5-4, GeneCard:TRBV5-4, HGNC:HGNC:12221, NCBI Gene:28611, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142168380 142168844 142463117 142463581 +PA36902 28610 HGNC:12222 ENSG00000211725 T cell receptor beta variable 5-5 TRBV5-5 TCRBV5S3A2T, TCRBV5S5, TRBV55 Yes No Ensembl:ENSG00000211725, GenAtlas:TRBV5-5, GeneCard:TRBV5-5, HGNC:HGNC:12222, NCBI Gene:28610, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142148928 142149392 142482555 142483019 +PA36903 28609 HGNC:12223 ENSG00000211728 T cell receptor beta variable 5-6 TRBV5-6 T-cell receptor beta chain V region CTL-L17 -like TCRBV5S2, TCRBV5S6, TRBV56 Yes No Ensembl:ENSG00000211728, GenAtlas:TRBV5-6, GeneCard:TRBV5-6, HGNC:HGNC:12223, NCBI Gene:28609, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142131412 142131877 142500069 142500534 +PA36904 28608 HGNC:12224 ENSG00000211731 T cell receptor beta variable 5-7 (non-functional) TRBV5-7 TCRBV5S7, TCRBV5S7P, TRBV57 Yes No Ensembl:ENSG00000211731, GenAtlas:TRBV5-7, GeneCard:TRBV5-7, HGNC:HGNC:12224, NCBI Gene:28608, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142111393 142111859 142520090 142520556 +PA36905 28607 HGNC:12225 T cell receptor beta variable 5-8 TRBV5-8 TCRBV5S4A2T, TCRBV5S8, TRBV58 Yes No GenAtlas:TRBV5-8, GeneCard:TRBV5-8, HGNC:HGNC:12225, NCBI Gene:28607, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 703893 704359 523822 524288 +PA36906 28606 HGNC:12226 ENSG00000211706 T cell receptor beta variable 6-1 TRBV6-1 T-cell receptor beta chain V region C5 -like TCRBV13S3, TCRBV6S1, TRBV61 Yes No Ensembl:ENSG00000211706, GenAtlas:TRBV6-1, GeneCard:TRBV6-1, HGNC:HGNC:12226, NCBI Gene:28606, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142028178 142028610 142328354 142328786 +PA36907 28605 HGNC:12227 ENSG00000283063 T cell receptor beta variable 6-2 (gene/pseudogene) TRBV6-2 TCRBV13S2A1T, TCRBV6S2, TRBV62 Yes No Ensembl:ENSG00000283063, GenAtlas:TRBV6-2, GeneCard:TRBV6-2, HGNC:HGNC:12227, NCBI Gene:28605, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 491214 491646 142349232 142349664 +PA36908 28604 HGNC:12228 T cell receptor beta variable 6-3 TRBV6-3 TCRBV13S9/13S2A1T, TCRBV6S3, TRBV63 Yes No GenAtlas:TRBV6-3, GeneCard:TRBV6-3, HGNC:HGNC:12228, NCBI Gene:28604, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 512867 513299 332796 333228 +PA36909 28603 HGNC:12229 ENSG00000211713 T cell receptor beta variable 6-4 TRBV6-4 TCRBV13S5, TCRBV6S4, TRBV64 Yes No Ensembl:ENSG00000211713, GenAtlas:TRBV6-4, GeneCard:TRBV6-4, HGNC:HGNC:12229, NCBI Gene:28603, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142250703 142251137 142380827 142381261 +PA36910 28602 HGNC:12230 ENSG00000211721 T cell receptor beta variable 6-5 TRBV6-5 TCRBV13S1, TCRBV6S5, TRBV65 Yes No Ensembl:ENSG00000211721, GenAtlas:TRBV6-5, GeneCard:TRBV6-5, HGNC:HGNC:12230, NCBI Gene:28602, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142180515 142180950 142451013 142451448 +PA36911 28601 HGNC:12231 ENSG00000211724 T cell receptor beta variable 6-6 TRBV6-6 TCRBV13S6A2T, TCRBV6S6, TRBV66 Yes No Ensembl:ENSG00000211724, GenAtlas:TRBV6-6, GeneCard:TRBV6-6, HGNC:HGNC:12231, NCBI Gene:28601, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142161931 142162363 142469581 142470013 +PA36912 28600 HGNC:12232 ENSG00000253188 T cell receptor beta variable 6-7 (non-functional) TRBV6-7 TCRBV13S8P, TCRBV6S7, TRBV67 Yes No Ensembl:ENSG00000253188, GenAtlas:TRBV6-7, GeneCard:TRBV6-7, HGNC:HGNC:12232, NCBI Gene:28600, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142143652 142144084 142487863 142488295 +PA36913 28599 HGNC:12233 ENSG00000253534 T cell receptor beta variable 6-8 TRBV6-8 TCRBV13S7P, TCRBV6S8, TRBV68 Yes No Ensembl:ENSG00000253534, GenAtlas:TRBV6-8, GeneCard:TRBV6-8, HGNC:HGNC:12233, NCBI Gene:28599, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142124137 142124565 142507382 142507810 +PA36914 28598 HGNC:12234 T cell receptor beta variable 6-9 TRBV6-9 TCRBV13S4, TCRBV6S9, TRBV69 Yes No GenAtlas:TRBV6-9, GeneCard:TRBV6-9, HGNC:HGNC:12234, NCBI Gene:28598, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142104121 142104553 510990 511422 +PA36915 28597 HGNC:12235 ENSG00000211707 T cell receptor beta variable 7-1 (non-functional) TRBV7-1 TCRBV6S7P, TCRBV7S1, TRBV71 Yes No Ensembl:ENSG00000211707, GenAtlas:TRBV7-1, GeneCard:TRBV7-1, HGNC:HGNC:12235, NCBI Gene:28597, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142032039 142032527 142332215 142332701 +PA36916 28596 HGNC:12236 ENSG00000282939 T cell receptor beta variable 7-2 TRBV7-2 T-cell receptor beta chain V region TCRBV6S5A1N1, TCRBV7S2, TRBV72 Yes No Ensembl:ENSG00000282939, GenAtlas:TRBV7-2, GeneCard:TRBV7-2, HGNC:HGNC:12236, NCBI Gene:28596, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 516501 517001 142352866 142353358 +PA36917 28595 HGNC:12237 ENSG00000211714 T cell receptor beta variable 7-3 TRBV7-3 TCRBV6S1A1N1, TCRBV7S3, TRBV73 Yes No Ensembl:ENSG00000211714, GenAtlas:TRBV7-3, GeneCard:TRBV7-3, HGNC:HGNC:12237, NCBI Gene:28595, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142247109 142247565 142384379 142384841 +PA36918 28594 HGNC:12238 ENSG00000253409 T cell receptor beta variable 7-4 (gene/pseudogene) TRBV7-4 TCRBV6S8A2T, TCRBV7S4, TRBV74 Yes No Ensembl:ENSG00000253409, GenAtlas:TRBV7-4, GeneCard:TRBV7-4, HGNC:HGNC:12238, NCBI Gene:28594, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142176329 142176790 142455174 142455635 +PA36919 28593 HGNC:12239 ENSG00000227550 T cell receptor beta variable 7-5 (pseudogene) TRBV7-5 TCRBV6S9P, TCRBV7S5, TRBV75 Yes No Ensembl:ENSG00000227550, GenAtlas:TRBV7-5, GeneCard:TRBV7-5, HGNC:HGNC:12239, NCBI Gene:28593, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142157378 142157849 142474096 142474567 +PA36920 28592 HGNC:12240 ENSG00000211727 T cell receptor beta variable 7-6 TRBV7-6 TCRBV6S3A1N1T, TCRBV7S6, TRBV76 Yes No Ensembl:ENSG00000211727, GenAtlas:TRBV7-6, GeneCard:TRBV7-6, HGNC:HGNC:12240, NCBI Gene:28592, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142139278 142139770 142492177 142492673 +PA36921 28591 HGNC:12241 ENSG00000253291 T cell receptor beta variable 7-7 TRBV7-7 TCRBV6S6A2T, TCRBV7S7, TRBV77 Yes No Ensembl:ENSG00000253291, GenAtlas:TRBV7-7, GeneCard:TRBV7-7, HGNC:HGNC:12241, NCBI Gene:28591, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142119820 142120321 142511626 142512127 +PA36922 28590 HGNC:12242 T cell receptor beta variable 7-8 TRBV7-8 TCRBV6S2A1N1T, TCRBV7S8, TRBV78 Yes No GenAtlas:TRBV7-8, GeneCard:TRBV7-8, HGNC:HGNC:12242, NCBI Gene:28590, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142099455 142099938 515605 516088 +PA36923 28589 HGNC:12243 ENSG00000278030 T cell receptor beta variable 7-9 TRBV7-9 TCRBV6S4A1, TCRBV7S9, TRBV79 Yes No Ensembl:ENSG00000278030, GenAtlas:TRBV7-9, GeneCard:TRBV7-9, HGNC:HGNC:12243, NCBI Gene:28589, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 713094 713566 142529290 142529762 +PA36924 28588 HGNC:12244 ENSG00000243889 T cell receptor beta variable 8-1 (pseudogene) TRBV8-1 TCRBV30S1P, TCRBV8S1P, TRBV81 Yes No Ensembl:ENSG00000243889, GenAtlas:TRBV8-1, GeneCard:TRBV8-1, HGNC:HGNC:12244, NCBI Gene:28588, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142273056 142273342 142358631 142358917 +PA36925 28587 HGNC:12245 ENSG00000239944 T cell receptor beta variable 8-2 (pseudogene) TRBV8-2 TCRBV32S1P, TRBV82 Yes No Ensembl:ENSG00000239944, GenAtlas:TRBV8-2, GeneCard:TRBV8-2, HGNC:HGNC:12245, NCBI Gene:28587, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142245303 142245763 142386187 142386647 +PA36926 28586 HGNC:12246 ENSG00000211716 T cell receptor beta variable 9 TRBV9 TCRBV1S1A1N1, TCRBV9S1 Yes No Ensembl:ENSG00000211716, GenAtlas:TRBV9, GeneCard:TRBV9, HGNC:HGNC:12246, NCBI Gene:28586, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142239537 142240011 142391938 142392412 +PA36927 28556 HGNC:12247 ENSG00000239992 T cell receptor beta variable A (pseudogene) TRBVA TCRBV33S1 Yes No Ensembl:ENSG00000239992, GenAtlas:TRBVA, GeneCard:TRBVA, HGNC:HGNC:12247, NCBI Gene:28556, RefSeq DNA:NG_001333, RefSeq DNA:NT_079596 No chr7 142389237 142389691 142681415 142681869 +PA38666 246286 HGNC:18741 T cell receptor beta variable A/OR9-2 (pseudogene) TRBVAOR9-2 TCRBV33S2, TRBVA/OR9-2 Yes No GenAtlas:TRBVAOR9-2, GeneCard:TRBVAOR9-2, HGNC:HGNC:18741, NCBI Gene:246286, RefSeq DNA:NG_001337, RefSeq DNA:NT_008413 No chr9 33682268 33682721 33682270 33682723 +PA36928 28555 HGNC:12248 ENSG00000241911 T cell receptor beta variable B (pseudogene) TRBVB TCRBV34S1 Yes No Ensembl:ENSG00000241911, GenAtlas:TRBVB, GeneCard:TRBVB, HGNC:HGNC:12248, NCBI Gene:28555, RefSeq DNA:NG_001333, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596 No chr7 142419212 142419752 142711384 142711924 +PA36932 6964 HGNC:12252 T cell receptor delta locus TRD TCRD, TCRDV1, TRD@ Yes No GenAtlas:TRD@, GeneCard:TRD@, HGNC:HGNC:12252, NCBI Gene:6964, OMIM:186810, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22891537 22935569 22422546 22466577 +PA36933 28526 HGNC:12253 ENSG00000211829 T cell receptor delta constant TRDC Yes No Ensembl:ENSG00000211829, GenAtlas:TRDC, GeneCard:TRDC, HGNC:HGNC:12253, NCBI Gene:28526, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22931924 22935569 22462932 22466577 +PA36934 28525 HGNC:12254 ENSG00000223997 T cell receptor delta diversity 1 TRDD1 Yes No Ensembl:ENSG00000223997, GenAtlas:TRDD1, GeneCard:TRDD1, HGNC:HGNC:12254, NCBI Gene:28525, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22907539 22907546 22438547 22438554 +PA36935 28524 HGNC:12255 ENSG00000237235 T cell receptor delta diversity 2 TRDD2 Yes No Ensembl:ENSG00000237235, GenAtlas:TRDD2, GeneCard:TRDD2, HGNC:HGNC:12255, NCBI Gene:28524, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22907999 22908007 22439007 22439015 +PA36936 28523 HGNC:12256 ENSG00000228985 T cell receptor delta diversity 3 TRDD3 Yes No Ensembl:ENSG00000228985, GenAtlas:TRDD3, GeneCard:TRDD3, HGNC:HGNC:12256, NCBI Gene:28523, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22918105 22918117 22449113 22449125 +PA36937 28522 HGNC:12257 ENSG00000211825 T cell receptor delta joining 1 TRDJ1 Yes No Ensembl:ENSG00000211825, GenAtlas:TRDJ1, GeneCard:TRDJ1, HGNC:HGNC:12257, NCBI Gene:28522, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22919081 22919131 22450089 22450139 +PA36938 28521 HGNC:12258 ENSG00000211827 T cell receptor delta joining 2 TRDJ2 Yes No Ensembl:ENSG00000211827, GenAtlas:TRDJ2, GeneCard:TRDJ2, HGNC:HGNC:12258, NCBI Gene:28521, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22925681 22925734 22456689 22456742 +PA36939 28520 HGNC:12259 ENSG00000211828 T cell receptor delta joining 3 TRDJ3 Yes No Ensembl:ENSG00000211828, GenAtlas:TRDJ3, GeneCard:TRDJ3, HGNC:HGNC:12259, NCBI Gene:28520, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22928090 22928148 22459098 22459156 +PA36940 28519 HGNC:12260 ENSG00000211826 T cell receptor delta joining 4 TRDJ4 Yes No Ensembl:ENSG00000211826, GenAtlas:TRDJ4, GeneCard:TRDJ4, HGNC:HGNC:12260, NCBI Gene:28519, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22924241 22924288 22455249 22455296 +PA162406922 1787 HGNC:2977 ENSG00000107614 tRNA aspartic acid methyltransferase 1 TRDMT1 tRNA (cytosine(38)-C(5))-methyltransferase DNMT2, RNMT1 Yes No Ensembl:ENSG00000107614, GeneCard:TRDMT1, HGNC:HGNC:2977, HumanCyc Gene:HS03011, ModBase:O14717, NCBI Gene:1787, OMIM:602478, RefSeq DNA:NT_008705, RefSeq Protein:NP_004403, RefSeq Protein:NP_788270, RefSeq Protein:NP_788271, RefSeq RNA:NM_004412, RefSeq RNA:NM_176081, RefSeq RNA:NM_176083, UniProtKB:O14717, UniProtKB:Q6ICS7 No chr10 17179828 17244093 17136785 17202071 +PA36941 10345 HGNC:12261 ENSG00000186439 triadin TRDN triadin in skeletal muscle TRISK Yes Yes Ensembl:ENSG00000186439, GenAtlas:TRDN, GeneCard:TRDN, HGNC:HGNC:12261, HumanCyc Gene:HS04234, NCBI Gene:10345, OMIM:603283, RefSeq DNA:NT_025741, RefSeq Protein:NP_006064, RefSeq RNA:NM_006073, UCSC Genome Browser:NM_006073, UniProtKB:Q13061, UniProtKB:Q8IVK2 No chr6 123537484 123958428 123216339 123637093 +PA36942 28518 HGNC:12262 ENSG00000211804 T cell receptor delta variable 1 TRDV1 hDV101S1 Yes No Ensembl:ENSG00000211804, GenAtlas:TRDV1, GeneCard:TRDV1, HGNC:HGNC:12262, NCBI Gene:28518, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22564327 22564896 22096050 22096619 +PA36943 28517 HGNC:12263 ENSG00000211821 T cell receptor delta variable 2 TRDV2 MGC117421, hDV102S1 Yes No Ensembl:ENSG00000211821, GenAtlas:TRDV2, GeneCard:TRDV2, HGNC:HGNC:12263, NCBI Gene:28517, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22891537 22892033 22422546 22423042 +PA36944 28516 HGNC:12264 ENSG00000256590 T cell receptor delta variable 3 TRDV3 hDV103S1 Yes No Ensembl:ENSG00000256590, GenAtlas:TRDV3, GeneCard:TRDV3, HGNC:HGNC:12264, NCBI Gene:28516, RefSeq DNA:NG_001332, RefSeq DNA:NT_026437 No chr14 22938033 22938606 22469041 22469614 +PA36946 11181 HGNC:12266 ENSG00000118094 trehalase TREH """alpha,alpha-trehalase"", ""alpha,alpha-trehalose glucohydrolase"", ""trehalase (brush-border membrane glycoprotein)""" MGC129621, TRE, TREA Yes No Comparative Toxicogenomics Database:11181, Ensembl:ENSG00000118094, GenAtlas:TREH, GeneCard:TREH, HGNC:HGNC:12266, HumanCyc Gene:HS04189, ModBase:O43280, NCBI Gene:11181, OMIM:275360, OMIM:612119, RefSeq DNA:NG_023321, RefSeq DNA:NT_033899, RefSeq Protein:NP_009111, RefSeq RNA:NM_007180, UCSC Genome Browser:NM_007180, UniProtKB:O43280 No chr11 118528942 118550381 118658232 118679672 +PA38467 54210 HGNC:17760 ENSG00000124731 triggering receptor expressed on myeloid cells 1 TREM1 CD354, TREM-1 Yes No Comparative Toxicogenomics Database:54210, Ensembl:ENSG00000124731, GenAtlas:TREM1, GeneCard:TREM1, HGNC:HGNC:17760, HumanCyc Gene:HS04821, ModBase:Q9NP99, NCBI Gene:54210, OMIM:605085, RefSeq DNA:NT_007592, RefSeq Protein:NP_001229518, RefSeq Protein:NP_001229519, RefSeq Protein:NP_061113, RefSeq RNA:NM_001242589, RefSeq RNA:NM_001242590, RefSeq RNA:NM_018643, UCSC Genome Browser:NM_018643, UniProtKB:Q38L15, UniProtKB:Q9NP99 No chr6 41242999 41254457 41267385 41286745 +PA38468 54209 HGNC:17761 ENSG00000095970 triggering receptor expressed on myeloid cells 2 TREM2 TREM-2, Trem2a, Trem2b, Trem2c Yes No Comparative Toxicogenomics Database:54209, Ensembl:ENSG00000095970, GenAtlas:TREM2, GeneCard:TREM2, HGNC:HGNC:17761, HumanCyc Gene:HS01839, ModBase:Q9NZC2, NCBI Gene:54209, OMIM:221770, OMIM:605086, RefSeq DNA:NG_011561, RefSeq DNA:NT_007592, RefSeq Protein:NP_061838, RefSeq RNA:NM_018965, UCSC Genome Browser:NM_018965, UniProtKB:Q5TCX1, UniProtKB:Q9NZC2 No chr6 41126244 41130924 41158506 41163200 +PA134878709 340205 HGNC:20434 ENSG00000161911 triggering receptor expressed on myeloid cells like 1 TREML1 TREM-like transcript 1, triggering receptor expressed on myeloid cells-like 1 TLT1, dJ238O23.3 Yes No Ensembl:ENSG00000161911, GeneCard:TREML1, HGNC:HGNC:20434, ModBase:Q86YW5, NCBI Gene:340205, OMIM:609714, RefSeq DNA:NT_007592, RefSeq Protein:NP_835468, RefSeq RNA:NM_178174, UniProtKB:Q86YW5 No chr6 41116998 41122087 41149097 41158450 +PA134921444 79865 HGNC:21092 ENSG00000112195 triggering receptor expressed on myeloid cells like 2 TREML2 TREM-like transcript 2, triggering receptor expressed on myeloid cells-like 2 C6orf76, FLJ13693, TLT2, dJ238O23.1 Yes No Ensembl:ENSG00000112195, GeneCard:TREML2, HGNC:HGNC:21092, HumanCyc Gene:HS12766, ModBase:Q5T2D2, NCBI Gene:79865, OMIM:609715, RefSeq DNA:NT_007592, RefSeq Protein:NP_079083, RefSeq RNA:NM_024807, UniProtKB:Q5T2D2 No chr6 41157552 41168925 41189749 41201233 +PA134889060 340206 HGNC:30806 ENSG00000184106 triggering receptor expressed on myeloid cells-like 3, pseudogene TREML3P TREM like transcript 3 TLT3 Yes No Ensembl:ENSG00000184106, GeneCard:TREML3P, HGNC:HGNC:30806, NCBI Gene:340206, OMIM:609716, RefSeq DNA:NT_007592, RefSeq RNA:NR_027256 No chr6 41176292 41185685 41208554 41217947 +PA134993202 285852 HGNC:30807 ENSG00000188056 triggering receptor expressed on myeloid cells like 4 TREML4 TREM like transcript 4, triggering receptor expressed on myeloid cells-like 4 TLT4 Yes Yes Comparative Toxicogenomics Database:285852, Ensembl:ENSG00000188056, GeneCard:TREML4, HGNC:HGNC:30807, ModBase:Q6UXN2, NCBI Gene:285852, RefSeq DNA:NT_007592, RefSeq Protein:NP_937796, RefSeq RNA:NM_198153, UniProtKB:Q6UXN2 No chr6 41196062 41206120 41228292 41239386 +PA134910321 221438 HGNC:30808 ENSG00000225690 triggering receptor expressed on myeloid cells-like 5, pseudogene TREML5P TREM like transcript 5 TLT5 Yes No Ensembl:ENSG00000225690, HGNC:HGNC:30808, NCBI Gene:221438, RefSeq DNA:NT_007592, RefSeq RNA:NR_002794 No chr6 41217115 41217327 41249377 41249589 +PA134923539 55809 HGNC:18273 ENSG00000124496 transcriptional regulating factor 1 TRERF1 BCAR2, HSA277276, RAPA, TReP-132, dJ139D8.5 Yes No Ensembl:ENSG00000124496, GeneCard:TRERF1, HGNC:HGNC:18273, HumanCyc Gene:HS04781, ModBase:Q96PN7, NCBI Gene:55809, OMIM:610322, RefSeq DNA:NT_007592, RefSeq Protein:NP_277037, RefSeq RNA:NM_033502, UniProtKB:Q96PN7 No chr6 42192669 42419943 42224933 42452216 +PA36949 11277 HGNC:12269 ENSG00000213689 three prime repair exonuclease 1 TREX1 AGS1, DRN3 Yes No Comparative Toxicogenomics Database:11277, Ensembl:ENSG00000213689, GenAtlas:AGS1, GenAtlas:TREX1, GeneCard:TREX1, HGNC:HGNC:12269, HumanCyc Gene:HS08993, ModBase:Q9NSU2, NCBI Gene:11277, OMIM:152700, OMIM:192315, OMIM:225750, OMIM:606609, OMIM:610448, RefSeq DNA:NG_009820, RefSeq DNA:NT_022517, RefSeq Protein:NP_057465, RefSeq Protein:NP_338599, RefSeq RNA:NM_016381, RefSeq RNA:NM_033629, UCSC Genome Browser:NM_016381, UniProtKB:Q9NSU2 No chr3 48506919 48509044 48465520 48467645 +PA36950 11219 HGNC:12270 ENSG00000183479 three prime repair exonuclease 2 TREX2 Yes No Ensembl:ENSG00000183479, GenAtlas:TREX2, GeneCard:TREX2, HGNC:HGNC:12270, HumanCyc Gene:HS00004, ModBase:Q9BQ50, NCBI Gene:11219, OMIM:300370, RefSeq DNA:NT_167198, RefSeq Protein:NP_542432, RefSeq RNA:NM_080701, UCSC Genome Browser:NM_007205, UniProtKB:Q9BQ50 No chrX 152710178 152711945 153444720 153446487 +PA36951 6965 HGNC:12271 T cell receptor gamma locus TRG """T-cell antigen receptor, gamma polypeptide"", ""T-cell rearranging gene, gamma"", ""T-cell receptor, gamma cluster""" TCRG, TRG@ Yes No GenAtlas:TRG@, GeneCard:TRG@, HGNC:HGNC:12271, ModBase:P03986, NCBI Gene:6965, OMIM:186970, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38279625 38407656 38240024 38368055 +PA36955 6966 HGNC:12275 ENSG00000211689 T cell receptor gamma constant 1 TRGC1 T-cell receptor, gamma, constant region C1 C1 Yes No Ensembl:ENSG00000211689, GenAtlas:TRGC1, GeneCard:TRGC1, HGNC:HGNC:12275, NCBI Gene:6966, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38299689 38305279 38260088 38265678 +PA36956 6967 HGNC:12276 ENSG00000227191 T cell receptor gamma constant 2 TRGC2 T-cell receptor, gamma, constant region C2 TRGC2(2X), TRGC2(3X) Yes No Comparative Toxicogenomics Database:6967, Ensembl:ENSG00000227191, GenAtlas:TRGC2, GeneCard:TRGC2, HGNC:HGNC:12276, NCBI Gene:6967, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38279625 38289173 38240024 38249572 +PA36957 6968 HGNC:12277 ENSG00000211690 T cell receptor gamma joining 1 TRGJ1 T-cell receptor, gamma, joining segment J1 J1 Yes No Ensembl:ENSG00000211690, GenAtlas:TRGJ1, GeneCard:TRGJ1, HGNC:HGNC:12277, NCBI Gene:6968, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38309092 38309141 38269491 38269540 +PA36958 6969 HGNC:12278 ENSG00000211687 T cell receptor gamma joining 2 TRGJ2 T-cell receptor gamma joining segment J2 J2 Yes No Ensembl:ENSG00000211687, GenAtlas:TRGJ2, GeneCard:TRGJ2, HGNC:HGNC:12278, NCBI Gene:6969, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38292981 38293030 38253380 38253429 +PA36959 6970 HGNC:12279 ENSG00000211691 T cell receptor gamma joining P TRGJP T-cell receptor, gamma, joining segment JP JP Yes No Ensembl:ENSG00000211691, GenAtlas:TRGJP, GeneCard:TRGJP, HGNC:HGNC:12279, NCBI Gene:6970, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38313188 38313249 38273587 38273648 +PA36960 6971 HGNC:12280 ENSG00000211692 T cell receptor gamma joining P1 TRGJP1 T-cell receptor gamma joining P1, T-cell receptor gamma joining segment JP1 JP1 Yes No Ensembl:ENSG00000211692, GenAtlas:TRGJP1, GeneCard:TRGJP1, HGNC:HGNC:12280, NCBI Gene:6971, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38315860 38315919 38276259 38276318 +PA36961 6972 HGNC:12281 ENSG00000211688 T cell receptor gamma joining P2 TRGJP2 T-cell receptor, gamma, joining segment JP2 JP2 Yes No Ensembl:ENSG00000211688, GenAtlas:TRGJP2, GeneCard:TRGJP2, HGNC:HGNC:12281, NCBI Gene:6972, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38295938 38295997 38256337 38256396 +PA36964 6973 HGNC:12284 ENSG00000211701 T cell receptor gamma variable 1 (non-functional) TRGV1 V1S1P Yes No Ensembl:ENSG00000211701, GenAtlas:TRGV1, GeneCard:TRGV1, HGNC:HGNC:12284, NCBI Gene:6973, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38407187 38407656 38367586 38368055 +PA36965 6984 HGNC:12285 ENSG00000211694 T cell receptor gamma variable 10 (non-functional) TRGV10 T-cell receptor, gamma, variable region V10 V3P Yes No Ensembl:ENSG00000211694, GenAtlas:TRGV10, GeneCard:TRGV10, HGNC:HGNC:12285, NCBI Gene:6984, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38339411 38339881 38299810 38300280 +PA36966 6985 HGNC:12286 ENSG00000211693 T cell receptor gamma variable 11 (non-functional) TRGV11 T-cell receptor, gamma, variable region V11 V4P Yes No Ensembl:ENSG00000211693, GenAtlas:TRGV11, GeneCard:TRGV11, HGNC:HGNC:12286, NCBI Gene:6985, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38331217 38331679 38291616 38292078 +PA36967 6974 HGNC:12287 ENSG00000233306 T cell receptor gamma variable 2 TRGV2 T-cell receptor, gamma, variable region V2 VIS2 Yes No Ensembl:ENSG00000233306, GenAtlas:TRGV2, GeneCard:TRGV2, HGNC:HGNC:12287, NCBI Gene:6974, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38402465 38402929 38362864 38363328 +PA36968 6976 HGNC:12288 ENSG00000211699 T cell receptor gamma variable 3 TRGV3 T-cell receptor, gamma, variable region V3 V1S3 Yes No Ensembl:ENSG00000211699, GenAtlas:TRGV3, GeneCard:TRGV3, HGNC:HGNC:12288, ModBase:P03979, NCBI Gene:6976, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38398113 38398580 38358512 38358979 +PA36969 6977 HGNC:12289 ENSG00000211698 T cell receptor gamma variable 4 TRGV4 T-cell receptor, gamma, variable region V4 V1S4 Yes No Ensembl:ENSG00000211698, GenAtlas:TRGV4, GeneCard:TRGV4, HGNC:HGNC:12289, NCBI Gene:6977, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38393316 38393784 38353715 38354183 +PA36970 6978 HGNC:12290 ENSG00000211697 T cell receptor gamma variable 5 TRGV5 T-cell receptor, gamma, variable region V5 V1S5 Yes No Ensembl:ENSG00000211697, GenAtlas:TRGV5, GeneCard:TRGV5, HGNC:HGNC:12290, NCBI Gene:6978, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38388956 38389425 38349355 38349824 +PA36971 6979 HGNC:12291 ENSG00000228668 T cell receptor gamma variable 5P (pseudogene) TRGV5P T-cell receptor, gamma, variable region V5P (pseudogene) V1S5P Yes No Ensembl:ENSG00000228668, GenAtlas:TRGV5P, GeneCard:TRGV5P, HGNC:HGNC:12291, NCBI Gene:6979, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38384631 38385100 38345030 38345499 +PA36972 6980 HGNC:12292 ENSG00000226212 T cell receptor gamma variable 6 (pseudogene) TRGV6 T-cell receptor, gamma, variable region V5P (pseudogene) TCRGV5P, V1S5P Yes No Ensembl:ENSG00000226212, GenAtlas:TRGV6, GeneCard:TRGV6, HGNC:HGNC:12292, NCBI Gene:6980, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38380301 38380772 38340700 38341171 +PA36973 6981 HGNC:12293 ENSG00000249978 T cell receptor gamma variable 7 (pseudogene) TRGV7 T-cell receptor, gamma, variable region V7 (pseudogene) V1S7P Yes No Ensembl:ENSG00000249978, GenAtlas:TRGV7, GeneCard:TRGV7, HGNC:HGNC:12293, NCBI Gene:6981, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38374642 38375115 38335041 38335514 +PA36974 6982 HGNC:12294 ENSG00000211696 T cell receptor gamma variable 8 TRGV8 T-cell receptor, gamma, variable region V8 V1S8 Yes No Ensembl:ENSG00000211696, GenAtlas:TRGV8, GeneCard:TRGV8, HGNC:HGNC:12294, NCBI Gene:6982, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38369944 38370422 38330343 38330821 +PA36975 6983 HGNC:12295 ENSG00000211695 T cell receptor gamma variable 9 TRGV9 T-cell receptor, gamma, variable region V9 V2 Yes No Ensembl:ENSG00000211695, GenAtlas:TRGV9, GeneCard:TRGV9, HGNC:HGNC:12295, NCBI Gene:6983, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38356618 38357093 38317017 38317492 +PA36976 6986 HGNC:12296 ENSG00000225992 T cell receptor gamma variable A (pseudogene) TRGVA T-cell receptor, gamma, variable region VA (pseudogene) V5P Yes No Ensembl:ENSG00000225992, GenAtlas:TRGVA, GeneCard:TRGVA, HGNC:HGNC:12296, NCBI Gene:6986, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38362047 38362464 38322446 38322863 +PA36977 6987 HGNC:12297 ENSG00000231202 T cell receptor gamma variable B (pseudogene) TRGVB T-cell receptor, gamma, variable region VB (pseudogene) V6P Yes No Ensembl:ENSG00000231202, GenAtlas:TRGVB, GeneCard:TRGVB, HGNC:HGNC:12297, NCBI Gene:6987, RefSeq DNA:NG_001336, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 38335364 38335834 38295763 38296233 +PA36978 7200 HGNC:12298 ENSG00000170893 thyrotropin releasing hormone TRH prothyroliberin, thyrotropin-releasing hormone Yes No Comparative Toxicogenomics Database:7200, Ensembl:ENSG00000170893, GenAtlas:TRH, GeneCard:TRH, HGNC:HGNC:12298, HumanCyc Gene:HS10202, ModBase:P20396, NCBI Gene:7200, OMIM:275120, RefSeq DNA:NT_005612, RefSeq Protein:NP_009048, RefSeq RNA:NM_007117, UCSC Genome Browser:NM_007117, UniProtKB:P20396 No chr3 129693236 129696781 129974393 129977938 +PA142670702 29953 HGNC:30748 ENSG00000072657 thyrotropin releasing hormone degrading enzyme TRHDE TRH-specific aminopeptidase, pyroglutamyl aminopeptidase II, pyroglutamyl-peptidase II, thyrotropin-releasing hormone degrading enzyme PAP-II, PGPEP2, TRH-DE Yes No Comparative Toxicogenomics Database:29953, Ensembl:ENSG00000072657, GeneCard:TRHDE, HGNC:HGNC:30748, HumanCyc Gene:HS01075, ModBase:Q9UKU6, NCBI Gene:29953, OMIM:606950, RefSeq DNA:NT_029419, RefSeq Protein:NP_037513, RefSeq RNA:NM_013381, UniProtKB:Q9UKU6 No chr12 72666314 73059422 72087288 72666662 +PA36979 7201 HGNC:12299 ENSG00000174417 thyrotropin releasing hormone receptor TRHR thyrotropin-releasing hormone receptor Yes No Comparative Toxicogenomics Database:7201, Ensembl:ENSG00000174417, GenAtlas:TRHR, GeneCard:TRHR, HGNC:HGNC:12299, HumanCyc Gene:HS10796, IUPHAR Receptor:363, ModBase:P34981, NCBI Gene:7201, OMIM:188545, RefSeq DNA:NG_017161, RefSeq DNA:NT_008046, RefSeq Protein:NP_003292, RefSeq RNA:NM_003301, UCSC Genome Browser:NM_003301, UniProtKB:P34981 No chr8 110099653 110131813 109085745 109119785 +PA143485661 51499 HGNC:26937 ENSG00000170855 TP53 regulated inhibitor of apoptosis 1 TRIAP1 mitochondrial distribution and morphology 35 homolog (S. cerevisiae), p53-inducible cell-survival factor HSPC132, MDM35, P53CSV, WF-1, p53CSV Yes No Comparative Toxicogenomics Database:51499, Ensembl:ENSG00000170855, GeneCard:TRIAP1, HGNC:HGNC:26937, HumanCyc Gene:HS15923, NCBI Gene:51499, RefSeq DNA:NT_009775, RefSeq Protein:NP_057483, RefSeq RNA:NM_016399, UniProtKB:O43715 No chr12 120881764 120884215 120443961 120446412 +PA134882693 100289619 HGNC:31659 ENSG00000237956 TP53 regulated inhibitor of apoptosis 1 pseudogene 1 TRIAP1P1 bA748L13.4 Yes No Ensembl:ENSG00000237956, GeneCard:C10orf135, HGNC:HGNC:31659, NCBI Gene:100289619 No chr10 27665877 27667328 27376948 27378399 +PA134963922 10221 HGNC:16891 ENSG00000173334 tribbles pseudokinase 1 TRIB1 tribbles homolog 1 (Drosophila) C8FW, GIG2, TRB1 Yes Yes Comparative Toxicogenomics Database:10221, Ensembl:ENSG00000173334, GeneCard:TRIB1, HGNC:HGNC:16891, HumanCyc Gene:HS10652, ModBase:Q96RU8, NCBI Gene:10221, OMIM:609461, RefSeq DNA:NT_008046, RefSeq Protein:NP_079471, RefSeq RNA:NM_025195, UniProtKB:Q96RU8 No chr8 126442563 126450647 125430100 125438405 +PA128394647 28951 HGNC:30809 ENSG00000071575 tribbles pseudokinase 2 TRIB2 tribbles homolog 2 (Drosophila) GS3955, TRB2 Yes Yes Comparative Toxicogenomics Database:28951, Ensembl:ENSG00000071575, GeneCard:TRIB2, HGNC:HGNC:30809, HumanCyc Gene:HS01036, ModBase:Q92519, NCBI Gene:28951, OMIM:609462, RefSeq DNA:NG_011644, RefSeq DNA:NT_005334, RefSeq Protein:NP_067675, RefSeq RNA:NM_021643, RefSeq RNA:NR_027303, UCSC Genome Browser:NM_021643, UniProtKB:Q92519 No chr2 12856998 12882860 12716872 12742734 +PA25804 57761 HGNC:16228 ENSG00000101255 tribbles pseudokinase 3 TRIB3 p65-interacting inhibitor of NF-κB, tribbles homolog 3 (Drosophila) C20orf97, SINK, TRB3, dJ1103G7.3 Yes Yes Comparative Toxicogenomics Database:57761, Ensembl:ENSG00000101255, GenAtlas:TRIB3, GeneCard:TRIB3, HGNC:HGNC:16228, HumanCyc Gene:HS02226, ModBase:Q96RU7, NCBI Gene:57761, OMIM:607898, RefSeq DNA:NT_011387, RefSeq Protein:NP_066981, RefSeq RNA:NM_021158, UCSC Genome Browser:NM_021158, UniProtKB:Q96RU7 No chr20 356447 378203 380629 397559 +PA166048954 9865 HGNC:22200 ENSG00000255690 TLR4 interactor with leucine rich repeats TRIL TLR4 interactor with leucine-rich repeats KIAA0644 Yes No Ensembl:ENSG00000255690, HGNC:HGNC:22200, NCBI Gene:9865 No chr7 28992974 28998029 28953358 28958413 +PA35536 10107 HGNC:10072 ENSG00000137394, ENSG00000204613, ENSG00000227472, ENSG00000229346, ENSG00000229381, ENSG00000235025, ENSG00000237192, ENSG00000237703 tripartite motif containing 10 TRIM10 HERF1, RFB30, RNF9 Yes No Comparative Toxicogenomics Database:10107, Ensembl:ENSG00000137394, Ensembl:ENSG00000204613, Ensembl:ENSG00000227472, Ensembl:ENSG00000229346, Ensembl:ENSG00000229381, Ensembl:ENSG00000235025, Ensembl:ENSG00000237192, Ensembl:ENSG00000237703, GenAtlas:TRIM10, GeneCard:TRIM10, HGNC:HGNC:10072, HumanCyc Gene:HS06334, ModBase:Q9UDY6, NCBI Gene:10107, OMIM:605701, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_006769, RefSeq Protein:NP_439893, RefSeq RNA:NM_006778, RefSeq RNA:NM_052828, UCSC Genome Browser:NM_006778, UniProtKB:Q5SRJ5, UniProtKB:Q5SRK8, UniProtKB:Q9UDY6 No chr6 30119722 30128711 30151939 30163216 +PA38112 81559 HGNC:16281 ENSG00000154370 tripartite motif containing 11 TRIM11 BIA1, RNF92 Yes No Comparative Toxicogenomics Database:81559, Ensembl:ENSG00000154370, GenAtlas:TRIM11, GeneCard:TRIM11, HGNC:HGNC:16281, HumanCyc Gene:HS07978, ModBase:Q96F44, NCBI Gene:81559, OMIM:607868, RefSeq DNA:NT_167186, RefSeq Protein:NP_660215, RefSeq RNA:NM_145214, UCSC Genome Browser:NM_145214, UniProtKB:Q96F44 No chr1 228581373 228594584 228393672 228406883 +PA162406947 10206 HGNC:9976 ENSG00000204977 tripartite motif containing 13 TRIM13 DLEU5, Leu5, RFP2, RNF77 Yes No Ensembl:ENSG00000204977, GeneCard:TRIM13, HGNC:HGNC:9976, ModBase:O60858, NCBI Gene:10206, OMIM:605661, RefSeq DNA:NT_024524, RefSeq Protein:NP_001007279, RefSeq Protein:NP_005789, RefSeq Protein:NP_434698, RefSeq Protein:NP_998755, RefSeq RNA:NM_001007278, RefSeq RNA:NM_005798, RefSeq RNA:NM_052811, RefSeq RNA:NM_213590, UniProtKB:O60858 No chr13 50571143 50592603 49997007 50018467 +PA38113 9830 HGNC:16283 ENSG00000106785 tripartite motif containing 14 TRIM14 KIAA0129 Yes No Ensembl:ENSG00000106785, GenAtlas:TRIM14, GeneCard:TRIM14, HGNC:HGNC:16283, HumanCyc Gene:HS02950, ModBase:Q14142, NCBI Gene:9830, OMIM:606556, RefSeq DNA:NT_008470, RefSeq Protein:NP_055603, RefSeq Protein:NP_150088, RefSeq Protein:NP_150089, RefSeq Protein:NP_150090, RefSeq RNA:NM_014788, RefSeq RNA:NM_033219, RefSeq RNA:NM_033220, RefSeq RNA:NM_033221, UCSC Genome Browser:NM_014788, UniProtKB:Q14142, UniProtKB:Q548W9 No chr9 100798071 100881695 98072014 98119418 +PA38114 89870 HGNC:16284 ENSG00000137384, ENSG00000204610, ENSG00000227147, ENSG00000233599, ENSG00000235259, ENSG00000235960 tripartite motif containing 15 TRIM15 RNF93, ZNF178, ZNFB7 Yes No Ensembl:ENSG00000137384, Ensembl:ENSG00000204610, Ensembl:ENSG00000227147, Ensembl:ENSG00000233599, Ensembl:ENSG00000235259, Ensembl:ENSG00000235960, GenAtlas:TRIM15, GeneCard:TRIM15, HGNC:HGNC:16284, HumanCyc Gene:HS06331, ModBase:Q9C019, NCBI Gene:89870, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_150232, RefSeq RNA:NM_033229, UCSC Genome Browser:NM_033229, UniProtKB:Q5SRL0, UniProtKB:Q9C019 No chr6 30130968 30140473 30163206 30172696 +PA38215 10626 HGNC:17241 ENSG00000221926 tripartite motif containing 16 TRIM16 estrogen-responsive B box protein EBBP Yes No Comparative Toxicogenomics Database:10626, Ensembl:ENSG00000221926, GenAtlas:TRIM16, GeneCard:TRIM16, HGNC:HGNC:17241, HumanCyc Gene:HS03107, ModBase:O95361, NCBI Gene:10626, OMIM:609505, RefSeq DNA:NT_010718, RefSeq Protein:NP_006461, RefSeq RNA:NM_006470, UCSC Genome Browser:NM_006470, UniProtKB:O95361 No chr17 15531277 15587625 15627966 15682879 +PA144596249 147166 HGNC:32670 ENSG00000108448 tripartite motif containing 16 like TRIM16L tripartite motif containing 16-like TRIM70 Yes No Ensembl:ENSG00000108448, GeneCard:TRIM16L, HGNC:HGNC:32670, NCBI Gene:147166, RefSeq DNA:NT_010718, RefSeq Protein:NP_001032407, RefSeq RNA:NM_001037330, UniProtKB:Q309B1 No chr17 18601311 18639431 18697998 18736119 +PA37768 51127 HGNC:13430 ENSG00000162931 tripartite motif containing 17 TRIM17 RING finger protein terf, ring finger protein 16, testis RING finger protein RBCC, RNF16, terf Yes No Ensembl:ENSG00000162931, GenAtlas:TRIM17, GeneCard:TRIM17, HGNC:HGNC:13430, HumanCyc Gene:HS08761, ModBase:Q9Y577, NCBI Gene:51127, OMIM:606123, RefSeq DNA:NT_167186, RefSeq Protein:NP_001020111, RefSeq Protein:NP_001020112, RefSeq Protein:NP_001128327, RefSeq Protein:NP_057186, RefSeq RNA:NM_001024940, RefSeq RNA:NM_001024941, RefSeq RNA:NM_001134855, RefSeq RNA:NM_016102, UCSC Genome Browser:NM_016102, UniProtKB:B4DVJ2, UniProtKB:Q9Y577 No chr1 228594858 228604583 228407478 228416882 +PA38070 23321 HGNC:15974 ENSG00000109654 tripartite motif containing 2 TRIM2 """Charcot-Marie-Tooth disease, type 2R"", ""RING finger protein 86""" CMT2R, KIAA0517, RNF86 Yes No Comparative Toxicogenomics Database:23321, Ensembl:ENSG00000109654, GenAtlas:TRIM2, GeneCard:TRIM2, HGNC:HGNC:15974, HumanCyc Gene:HS03245, ModBase:Q9C040, NCBI Gene:23321, RefSeq DNA:NT_016354, RefSeq Protein:NP_001123539, RefSeq Protein:NP_056086, RefSeq RNA:NM_001130067, RefSeq RNA:NM_015271, UCSC Genome Browser:NM_015271, UniProtKB:Q9C040 No chr4 154073650 154260474 153152281 153339322 +PA36136 6737 HGNC:11312 ENSG00000132109 tripartite motif containing 21 TRIM21 E3 ubiquitin-protein ligase TRIM21, Ro/SSA 52kDa RNF81, RO52, Ro/SSA, SSA1 Yes No Comparative Toxicogenomics Database:6737, Ensembl:ENSG00000132109, GenAtlas:TRIM21, GeneCard:TRIM21, HGNC:HGNC:11312, HumanCyc Gene:HS05594, ModBase:P19474, NCBI Gene:6737, OMIM:109092, RefSeq DNA:NT_009237, RefSeq Protein:NP_003132, RefSeq RNA:NM_003141, UCSC Genome Browser:NM_003141, UniProtKB:P19474 No chr11 4406127 4414926 4384897 4393696 +PA38129 10346 HGNC:16379 ENSG00000132274 tripartite motif containing 22 TRIM22 GPSTAF50, RNF94, STAF50 Yes No Comparative Toxicogenomics Database:10346, Ensembl:ENSG00000132274, GenAtlas:TRIM22, GeneCard:TRIM22, HGNC:HGNC:16379, HumanCyc Gene:HS05611, ModBase:Q8IYM9, NCBI Gene:10346, OMIM:606559, RefSeq DNA:NT_009237, RefSeq Protein:NP_001186502, RefSeq Protein:NP_006065, RefSeq RNA:NM_001199573, RefSeq RNA:NM_006074, UCSC Genome Browser:NM_006074, UniProtKB:Q8IYM9 No chr11 5710817 5732093 5689587 5710863 +PA24943 373 HGNC:660 ENSG00000113595 tripartite motif containing 23 TRIM23 ARD1, ARFD1, RNF46 Yes No Ensembl:ENSG00000113595, GenAtlas:TRIM23, GeneCard:TRIM23, HGNC:HGNC:660, HumanCyc Gene:HS03700, ModBase:P36406, NCBI Gene:373, OMIM:601747, RefSeq DNA:NT_006713, RefSeq Protein:NP_001647, RefSeq Protein:NP_150230, RefSeq Protein:NP_150231, RefSeq RNA:NM_001656, RefSeq RNA:NM_033227, RefSeq RNA:NM_033228, UCSC Genome Browser:NM_001656, UniProtKB:P36406 No chr5 64885507 64920187 65589680 65624360 +PA36519 8805 HGNC:11812 ENSG00000122779 tripartite motif containing 24 TRIM24 RNF82, TIF1, TIF1A, Tif1a, hTIF1 Yes No Comparative Toxicogenomics Database:8805, Ensembl:ENSG00000122779, GenAtlas:TRIM24, GeneCard:TRIM24, HGNC:HGNC:11812, HumanCyc Gene:HS04601, ModBase:O15164, NCBI Gene:8805, OMIM:188550, OMIM:603406, RefSeq DNA:NG_023286, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_003843, RefSeq Protein:NP_056989, RefSeq RNA:NM_003852, RefSeq RNA:NM_015905, UCSC Genome Browser:NM_003852, UniProtKB:A4D1R7, UniProtKB:A4D1R8, UniProtKB:O15164 No chr7 138145079 138270333 138460334 138585588 +PA37519 7706 HGNC:12932 ENSG00000121060 tripartite motif containing 25 TRIM25 EFP, RNF147, ZNF147 Yes No Comparative Toxicogenomics Database:7706, Ensembl:ENSG00000121060, GenAtlas:TRIM25, GeneCard:TRIM25, HGNC:HGNC:12932, HumanCyc Gene:HS04466, ModBase:Q14258, NCBI Gene:7706, OMIM:600453, RefSeq DNA:NT_010783, RefSeq Protein:NP_005073, RefSeq RNA:NM_005082, UCSC Genome Browser:NM_005082, UniProtKB:Q14258 No chr17 54965270 54991409 56887909 56914048 +PA37544 7726 HGNC:12962 ENSG00000137313, ENSG00000226060, ENSG00000228881, ENSG00000230230, ENSG00000231002, ENSG00000231641, ENSG00000234046, ENSG00000234127 tripartite motif containing 26 TRIM26 RNF95, ZNF173 Yes No Ensembl:ENSG00000137313, Ensembl:ENSG00000226060, Ensembl:ENSG00000228881, Ensembl:ENSG00000230230, Ensembl:ENSG00000231002, Ensembl:ENSG00000231641, Ensembl:ENSG00000234046, Ensembl:ENSG00000234127, GenAtlas:TRIM26, GeneCard:TRIM26, HGNC:HGNC:12962, HumanCyc Gene:HS06310, ModBase:Q12899, NCBI Gene:7726, OMIM:600830, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001229712, RefSeq Protein:NP_003440, RefSeq RNA:NM_001242783, RefSeq RNA:NM_003449, UCSC Genome Browser:NM_003449, UniProtKB:Q12899, UniProtKB:Q5SRL2 No chr6 30152232 30181271 30184453 30213494 +PA134993281 404024 HGNC:31338 ENSG00000236475 tripartite motif containing 26B, pseudogene TRIM26BP tripartite motif containing 26 pseudogene 1 Em:AB023053.1, TRIM26P1 Yes No Ensembl:ENSG00000236475, HGNC:HGNC:31338, NCBI Gene:404024 No chr6 30206078 30210056 30238301 30242279 +PA162406956 5987 HGNC:9975 ENSG00000204713, ENSG00000215641, ENSG00000229006, ENSG00000234495, ENSG00000237071 tripartite motif containing 27 TRIM27 RFP, RNF76 Yes No Ensembl:ENSG00000204713, Ensembl:ENSG00000215641, Ensembl:ENSG00000229006, Ensembl:ENSG00000234495, Ensembl:ENSG00000237071, GeneCard:TRIM27, HGNC:HGNC:9975, HumanCyc Gene:HS03570, ModBase:P14373, NCBI Gene:5987, OMIM:602165, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_006501, RefSeq RNA:NM_006510, UniProtKB:P14373 No chr6 28870779 28891768 28903002 28923991 +PA38131 10155 HGNC:16384 ENSG00000130726 tripartite motif containing 28 TRIM28 """KRAB-associated protein 1"", ""RING finger protein 96"", ""Transcription intermediary factor 1-beta"", ""protein phosphatase 1, regulatory subunit 157""" KAP-1, KAP1, PPP1R157, RNF96, TF1B, TIF1-beta, TIF1B, TIF1beta Yes No Comparative Toxicogenomics Database:10155, Ensembl:ENSG00000130726, GenAtlas:TRIM28, GeneCard:TRIM28, HGNC:HGNC:16384, HumanCyc Gene:HS05433, ModBase:Q13263, NCBI Gene:10155, OMIM:601742, RefSeq DNA:NT_011109, RefSeq Protein:NP_005753, RefSeq RNA:NM_005762, UCSC Genome Browser:NM_005762, UniProtKB:Q13263 No chr19 59055824 59062087 58544469 58550715 +PA38218 23650 HGNC:17274 ENSG00000137699 tripartite motif containing 29 TRIM29 ataxia-telangiectasia group D-associated protein, tripartite motif protein TRIM29 ATDC, FLJ36085 Yes No Ensembl:ENSG00000137699, GenAtlas:TRIM29, GeneCard:TRIM29, HGNC:HGNC:17274, HumanCyc Gene:HS06375, ModBase:Q14134, NCBI Gene:23650, OMIM:610658, RefSeq DNA:NT_033899, RefSeq Protein:NP_036233, RefSeq RNA:NM_012101, UCSC Genome Browser:NM_012101, UniProtKB:Q14134 No chr11 119981994 120056237 120111286 120138179 +PA35534 10612 HGNC:10064 ENSG00000110171 tripartite motif containing 3 TRIM3 brain expressed ring finger, ring finger protein 22, tripartite motif protein TRIM3 BERP, HAC1, RNF22, RNF97 Yes No Ensembl:ENSG00000110171, GenAtlas:TRIM3, GeneCard:TRIM3, HGNC:HGNC:10064, HumanCyc Gene:HS03291, ModBase:O75382, NCBI Gene:10612, OMIM:605493, RefSeq DNA:NT_009237, RefSeq Protein:NP_006449, RefSeq Protein:NP_150594, RefSeq RNA:NM_006458, RefSeq RNA:NM_033278, UCSC Genome Browser:NM_006458, UniProtKB:O75382 No chr11 6469843 6495689 6448613 6474459 +PA38117 11074 HGNC:16289 ENSG00000204616, ENSG00000223531, ENSG00000224168, ENSG00000225130 tripartite motif containing 31 TRIM31 C6orf13, HCG1, HCGI, RNF Yes No Comparative Toxicogenomics Database:11074, Ensembl:ENSG00000204616, Ensembl:ENSG00000223531, Ensembl:ENSG00000224168, Ensembl:ENSG00000225130, GenAtlas:TRIM31, GeneCard:TRIM31, HGNC:HGNC:16289, HumanCyc Gene:HS06335, ModBase:Q96AK4, NCBI Gene:11074, OMIM:609316, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_008959, RefSeq RNA:NM_007028, UCSC Genome Browser:NM_007028, UniProtKB:Q2L6J1, UniProtKB:Q9BZY9 No chr6 30070674 30080867 30102892 30113106 +PA38130 22954 HGNC:16380 ENSG00000119401 tripartite motif containing 32 TRIM32 BBS11, HT2A, LGMD2H, TATIP Yes No Comparative Toxicogenomics Database:22954, Ensembl:ENSG00000119401, GenAtlas:TRIM32, GeneCard:TRIM32, HGNC:HGNC:16380, HumanCyc Gene:HS04291, ModBase:Q13049, NCBI Gene:22954, OMIM:209900, OMIM:254110, OMIM:602290, RefSeq DNA:NG_011619, RefSeq DNA:NT_008470, RefSeq Protein:NP_001093149, RefSeq Protein:NP_036342, RefSeq RNA:NM_001099679, RefSeq RNA:NM_012210, UCSC Genome Browser:NM_012210, UniProtKB:Q13049 No chr9 119360147 119463579 116687302 116701300 +PA38118 51592 HGNC:16290 ENSG00000197323 tripartite motif containing 33 TRIM33 ret-fused gene 7, transcriptional intermediary factor 1 gamma FLJ11429, KIAA1113, PTC7, RFG7, TF1G, TIF1G, TIF1GAMMA, TIFGAMMA Yes No Comparative Toxicogenomics Database:51592, Ensembl:ENSG00000197323, GenAtlas:TRIM33, GeneCard:TRIM33, HGNC:HGNC:16290, ModBase:Q9UPN9, NCBI Gene:51592, OMIM:188550, OMIM:605769, RefSeq DNA:NG_023287, RefSeq DNA:NT_032977, RefSeq Protein:NP_056990, RefSeq Protein:NP_148980, RefSeq RNA:NM_015906, RefSeq RNA:NM_033020, UCSC Genome Browser:NM_015906, UniProtKB:B3KN30, UniProtKB:Q9UPN9 No chr1 114935399 115053781 114392777 114511160 +PA35533 53840 HGNC:10063 ENSG00000258659 tripartite motif containing 34 TRIM34 RNF21 Yes No Comparative Toxicogenomics Database:53840, Ensembl:ENSG00000258659, GenAtlas:TRIM34, GeneCard:TRIM34, HGNC:HGNC:10063, HumanCyc Gene:HS04475, ModBase:Q9BYJ4, NCBI Gene:53840, OMIM:605684, RefSeq DNA:NT_009237, RefSeq Protein:NP_001003827, RefSeq Protein:NP_067629, RefSeq Protein:NP_569073, RefSeq Protein:NP_569074, RefSeq RNA:NM_001003827, RefSeq RNA:NM_021616, RefSeq RNA:NM_130389, RefSeq RNA:NM_130390, UCSC Genome Browser:NM_021616, UniProtKB:A8MX81, UniProtKB:Q9BYJ4 No chr11 5641174 5665628 5619944 5644398 +PA38115 23087 HGNC:16285 ENSG00000104228 tripartite motif containing 35 TRIM35 HLS5, KIAA1098, MAIR Yes No Ensembl:ENSG00000104228, GenAtlas:TRIM35, GeneCard:TRIM35, HGNC:HGNC:16285, HumanCyc Gene:HS02555, ModBase:Q9UPQ4, NCBI Gene:23087, RefSeq DNA:NT_167187, RefSeq Protein:NP_741983, RefSeq RNA:NM_171982, UCSC Genome Browser:NM_015066, UniProtKB:Q9UPQ4 No chr8 27142404 27168834 27284886 27311319 +PA38111 55521 HGNC:16280 ENSG00000152503 tripartite motif containing 36 TRIM36 RING finger protein 98, tripartite motif protein 36, zinc-binding protein Rbcc728 HAPRIN, RBCC728, RNF98 Yes No Comparative Toxicogenomics Database:55521, Ensembl:ENSG00000152503, GenAtlas:TRIM36, GeneCard:TRIM36, HGNC:HGNC:16280, HumanCyc Gene:HS07829, ModBase:Q9NQ86, NCBI Gene:55521, OMIM:609317, RefSeq DNA:NT_034772, RefSeq Protein:NP_001017397, RefSeq Protein:NP_001017398, RefSeq Protein:NP_061170, RefSeq RNA:NM_001017397, RefSeq RNA:NM_001017398, RefSeq RNA:NM_018700, UCSC Genome Browser:NM_018700, UniProtKB:A6NDD0, UniProtKB:Q0P5Z9, UniProtKB:Q9NQ86 No chr5 114460459 114516243 115124762 115180546 +PA35497 4591 HGNC:7523 ENSG00000108395 tripartite motif containing 37 TRIM37 E3 ubiquitin-protein ligase TRIM37, RING-B-box-coiled-coil protein KIAA0898, MUL, POB1, TEF3 Yes No Comparative Toxicogenomics Database:4591, Ensembl:ENSG00000108395, GenAtlas:TRIM37, GeneCard:TRIM37, HGNC:HGNC:7523, HumanCyc Gene:HS03098, ModBase:O94972, NCBI Gene:4591, OMIM:253250, OMIM:605073, RefSeq DNA:NG_009298, RefSeq DNA:NT_010783, RefSeq Protein:NP_001005207, RefSeq Protein:NP_056109, RefSeq RNA:NM_001005207, RefSeq RNA:NM_015294, UCSC Genome Browser:NM_015294, UniProtKB:A8K0V9, UniProtKB:A8K8U4, UniProtKB:O94972 No chr17 57059999 57184266 58968068 59106921 +PA35532 10475 HGNC:10059 ENSG00000112343 tripartite motif containing 38 TRIM38 RNF15, RORET Yes No Comparative Toxicogenomics Database:10475, Ensembl:ENSG00000112343, GenAtlas:TRIM38, GeneCard:TRIM38, HGNC:HGNC:10059, HumanCyc Gene:HS03564, ModBase:O00635, NCBI Gene:10475, RefSeq DNA:NT_007592, RefSeq Protein:NP_006346, RefSeq RNA:NM_006355, UCSC Genome Browser:NM_006355, UniProtKB:O00635 No chr6 25962917 25987557 25962689 25988867 +PA35535 56658 HGNC:10065 ENSG00000204599, ENSG00000206495, ENSG00000224994, ENSG00000226437, ENSG00000229929, ENSG00000230308, ENSG00000232839 tripartite motif containing 39 TRIM39 RNF23 Yes No Comparative Toxicogenomics Database:56658, Ensembl:ENSG00000204599, Ensembl:ENSG00000206495, Ensembl:ENSG00000224994, Ensembl:ENSG00000226437, Ensembl:ENSG00000229929, Ensembl:ENSG00000230308, Ensembl:ENSG00000232839, GenAtlas:TRIM39, GeneCard:TRIM39, HGNC:HGNC:10065, HumanCyc Gene:HS06336, ModBase:Q9HCM9, NCBI Gene:56658, OMIM:605700, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_067076, RefSeq Protein:NP_742013, RefSeq RNA:NM_021253, RefSeq RNA:NM_172016, UCSC Genome Browser:NM_021253, UniProtKB:Q5STG3, UniProtKB:Q9HCM9 No chr6 30294227 30311506 30326844 30343729 +PA38108 89122 HGNC:16275 ENSG00000146833 tripartite motif containing 4 TRIM4 tripartite motif protein 4, tripartite motif protein TRIM4 RNF87 Yes No Ensembl:ENSG00000146833, GenAtlas:TRIM4, GeneCard:TRIM4, HGNC:HGNC:16275, HumanCyc Gene:HS07374, ModBase:Q9C037, NCBI Gene:89122, RefSeq DNA:NG_000004, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_148977, RefSeq Protein:NP_149082, RefSeq RNA:NM_033017, RefSeq RNA:NM_033091, UCSC Genome Browser:NM_033017, UniProtKB:Q9C037 No chr7 99488030 99517223 99890407 99919600 +PA38663 135644 HGNC:18736 ENSG00000172524, ENSG00000204614, ENSG00000224496, ENSG00000228001, ENSG00000237046 tripartite motif containing 40 TRIM40 RNF35 Yes No Ensembl:ENSG00000172524, Ensembl:ENSG00000204614, Ensembl:ENSG00000224496, Ensembl:ENSG00000228001, Ensembl:ENSG00000237046, GenAtlas:TRIM40, GeneCard:TRIM40, HGNC:HGNC:18736, HumanCyc Gene:HS10533, ModBase:Q6P9F5, NCBI Gene:135644, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_619645, RefSeq RNA:NM_138700, UCSC Genome Browser:NM_138700, UniProtKB:Q5SRJ6, UniProtKB:Q6P9F5 No chr6 30103885 30116512 30135998 30148773 +PA134918519 90933 HGNC:19013 ENSG00000146063 tripartite motif containing 41 TRIM41 RING-finger protein that interacts with C kinase MGC1127, RINCK Yes No Ensembl:ENSG00000146063, GeneCard:TRIM41, HGNC:HGNC:19013, HumanCyc Gene:HS07319, ModBase:Q8WV44, NCBI Gene:90933, OMIM:610530, RefSeq DNA:NT_023133, RefSeq Protein:NP_291027, RefSeq Protein:NP_963921, RefSeq RNA:NM_033549, RefSeq RNA:NM_201627, UniProtKB:Q658W3, UniProtKB:Q8WV44 No chr5 180650263 180662808 181223263 181235808 +PA134894780 287015 HGNC:19014 ENSG00000155890 tripartite motif containing 42 TRIM42 protein phosphatase 1, regulatory subunit 40 FLJ40097, PPP1R40, T4A1 Yes No Ensembl:ENSG00000155890, GeneCard:TRIM42, HGNC:HGNC:19014, HumanCyc Gene:HS08077, ModBase:Q8IWZ5, NCBI Gene:287015, RefSeq DNA:NT_005612, RefSeq Protein:NP_689829, RefSeq RNA:NM_152616, UniProtKB:Q8IWZ5 No chr3 140396866 140419992 140678024 140701150 +PA134936799 129868 HGNC:19015 ENSG00000144015 tripartite motif containing 43 TRIM43 TRIM43A Yes No Ensembl:ENSG00000144015, GeneCard:TRIM43, HGNC:HGNC:19015, HumanCyc Gene:HS07134, ModBase:Q96BQ3, NCBI Gene:129868, RefSeq DNA:NT_022171, RefSeq Protein:NP_620155, RefSeq RNA:NM_138800, UniProtKB:Q96BQ3 No chr2 96257766 96265471 95592018 95599723 +PA165697592 653192 HGNC:37146 ENSG00000144010 tripartite motif containing 43B TRIM43B Yes No Ensembl:ENSG00000144010, GeneCard:TRIM43B, HGNC:HGNC:37146, NCBI Gene:653192, RefSeq DNA:NT_022171, RefSeq Protein:NP_001157936, RefSeq Protein:XP_931530, RefSeq RNA:NM_001164464, RefSeq RNA:XM_926437, UniProtKB:A6NCK2 No chr2 96142715 96150479 95476967 95484731 +PA134906584 54765 HGNC:19016 ENSG00000166326 tripartite motif containing 44 TRIM44 DIPB, MC7 Yes No Ensembl:ENSG00000166326, GeneCard:TRIM44, HGNC:HGNC:19016, HumanCyc Gene:HS09375, ModBase:Q96DX7, NCBI Gene:54765, OMIM:612298, RefSeq DNA:NT_009237, RefSeq Protein:NP_060053, RefSeq RNA:NM_017583, UniProtKB:Q96DX7 No chr11 35684353 35830930 35662692 35811053 +PA134873644 80263 HGNC:19018 ENSG00000134253 tripartite motif containing 45 TRIM45 FLJ13181, RNF99 Yes No Ensembl:ENSG00000134253, GeneCard:TRIM45, HGNC:HGNC:19018, HumanCyc Gene:HS05843, ModBase:Q9H8W5, NCBI Gene:80263, OMIM:609318, RefSeq DNA:NT_032977, RefSeq Protein:NP_001139107, RefSeq Protein:NP_079464, RefSeq RNA:NM_001145635, RefSeq RNA:NM_025188, UniProtKB:Q9H8W5 No chr1 117653677 117664411 117107711 117121789 +PA134914315 80128 HGNC:19019 ENSG00000163462 tripartite motif containing 46 TRIM46 FLJ23229, TRIFIC Yes No Ensembl:ENSG00000163462, GeneCard:TRIM46, HGNC:HGNC:19019, HumanCyc Gene:HS08852, ModBase:Q7Z4K8, NCBI Gene:80128, OMIM:600986, RefSeq DNA:NT_004487, RefSeq Protein:NP_079334, RefSeq RNA:NM_025058, UniProtKB:Q7Z4K8 No chr1 155145702 155157447 155173714 155184971 +PA134883590 91107 HGNC:19020 ENSG00000132481 tripartite motif containing 47 TRIM47 GOA, RNF100 Yes No Comparative Toxicogenomics Database:91107, Ensembl:ENSG00000132481, GeneCard:TRIM47, HGNC:HGNC:19020, HumanCyc Gene:HS05644, ModBase:Q96LD4, NCBI Gene:91107, OMIM:611041, RefSeq DNA:NT_010783, RefSeq Protein:NP_258411, RefSeq RNA:NM_033452, UniProtKB:Q96LD4 No chr17 73870242 73874683 75874164 75878599 +PA134981425 79097 HGNC:19021 ENSG00000150244 tripartite motif containing 48 TRIM48 RNF101 Yes No Ensembl:ENSG00000150244, GeneCard:TRIM48, HGNC:HGNC:19021, HumanCyc Gene:HS07659, ModBase:Q8IWZ4, NCBI Gene:79097, RefSeq DNA:NT_167190, RefSeq Protein:NP_077019, RefSeq RNA:NM_024114, UniProtKB:Q8IWZ4 No chr11 55029658 55038595 55262182 55271119 +PA34425 57093 HGNC:13431 ENSG00000168930 tripartite motif containing 49 TRIM49 RNF18, TRIM49A Yes No Ensembl:ENSG00000168930, GenAtlas:TRIM49, GeneCard:TRIM49, HGNC:HGNC:13431, HumanCyc Gene:HS09853, ModBase:Q9NS80, NCBI Gene:57093, OMIM:606124, RefSeq DNA:NT_167190, RefSeq Protein:NP_065091, RefSeq RNA:NM_020358, UCSC Genome Browser:NM_020358 No chr11 89530823 89541743 89797655 89808575 +PA166049088 283116 HGNC:42955 ENSG00000182053 tripartite motif containing 49B TRIM49B Yes No Ensembl:ENSG00000182053, HGNC:HGNC:42955, NCBI Gene:283116 No chr11 49053152 49059529 49031596 49038049 +PA166049036 642612 HGNC:38877 ENSG00000204449 tripartite motif containing 49C TRIM49C TRIM49L2 Yes No Ensembl:ENSG00000204449, HGNC:HGNC:38877, NCBI Gene:642612 No chr11 89764274 89775193 90031106 90042025 +PA166049104 399939 HGNC:43973 ENSG00000223417 tripartite motif containing 49D1 TRIM49D1 tripartite motif containing 49D TRIM49D, TRIM49D1P, TRIM49DP Yes No Ensembl:ENSG00000223417, HGNC:HGNC:43973, NCBI Gene:399939 No chr11 89644640 89650878 89911472 89920410 +PA165543723 729384 HGNC:37217 ENSG00000233802 tripartite motif containing 49D2 TRIM49D2 tripartite motif containing 49D2, pseudogene TRIM49D2P, TRIM49L, TRIM49L1 Yes No Ensembl:ENSG00000233802, GeneCard:TRIM49L1, HGNC:HGNC:37217, NCBI Gene:729384, RefSeq DNA:NT_167190, RefSeq Protein:NP_001098992, RefSeq RNA:NM_001105522, UniProtKB:C9J1S8 No chr11 89657232 89666231 89924064 89933063 +PA38109 85363 HGNC:16276 ENSG00000132256 tripartite motif containing 5 TRIM5 tripartite motif protein TRIM, tripartite motif protein TRIM5 RNF88, TRIM5alpha Yes Yes Ensembl:ENSG00000132256, GenAtlas:TRIM5, GeneCard:TRIM5, HGNC:HGNC:16276, HumanCyc Gene:HS05610, ModBase:Q2V6Q6, NCBI Gene:85363, OMIM:608487, RefSeq DNA:NT_009237, RefSeq Protein:NP_149023, RefSeq Protein:NP_149083, RefSeq Protein:NP_149084, RefSeq RNA:NM_033034, RefSeq RNA:NM_033092, RefSeq RNA:NM_033093, UCSC Genome Browser:NM_033034, UniProtKB:Q9C035 No chr11 5676740 5706339 5590906 5685109 +PA38778 135892 HGNC:19017 ENSG00000146755 tripartite motif containing 50 TRIM50 FLJ32804, TRIM50A Yes No Ensembl:ENSG00000146755, GenAtlas:TRIM50, GeneCard:TRIM50, HGNC:HGNC:19017, ModBase:Q86XT4, NCBI Gene:135892, OMIM:612548, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_835226, RefSeq RNA:NM_178125, UniProtKB:Q86XT4 No chr7 72726532 72742085 73312536 73328082 +PA134949173 84767 HGNC:19023 ENSG00000124900 tripartite motif-containing 51 TRIM51 SPRYD5, TRIM51A Yes No Ensembl:ENSG00000124900, GeneCard:SPRYD5, HGNC:HGNC:19023, HumanCyc Gene:HS13149, ModBase:Q9BSJ1, NCBI Gene:84767, RefSeq DNA:NT_167190, RefSeq Protein:NP_116070, RefSeq RNA:NM_032681, UniProtKB:Q9BSJ1 No chr11 55650773 55659286 55883297 55891810 +PA166352236 120824 HGNC:43972 tripartite motif-containing 51G TRIM51G TRIM51GP Yes No HGNC:HGNC:43972, NCBI Gene:120824 No 0 0 0 0 +PA134943216 84851 HGNC:19024 ENSG00000183718 tripartite motif containing 52 TRIM52 RNF102 Yes No Ensembl:ENSG00000183718, GeneCard:TRIM52, HGNC:HGNC:19024, ModBase:Q96A61, NCBI Gene:84851, RefSeq DNA:NT_023133, RefSeq Protein:NP_116154, RefSeq RNA:NM_032765, UniProtKB:Q96A61 No chr5 180683373 180688161 181254077 181261160 +PA134935512 642569 HGNC:19025 ENSG00000225581 tripartite motif containing 53A, pseudogene TRIM53AP Yes No Ensembl:ENSG00000225581, GeneCard:TRIM53AP, HGNC:HGNC:19025, NCBI Gene:642569, RefSeq DNA:NT_167190, RefSeq Protein:NP_001138598, RefSeq RNA:NM_001145126, RefSeq RNA:NR_028346 No chr11 89726709 89735676 89993541 90002508 +PA34434 57159 HGNC:16008 ENSG00000138100 tripartite motif containing 54 TRIM54 MURF, MURF-3, RNF30 Yes No Comparative Toxicogenomics Database:57159, Ensembl:ENSG00000138100, GenAtlas:TRIM54, GeneCard:TRIM54, HGNC:HGNC:16008, HumanCyc Gene:HS06455, ModBase:Q9BYV2, NCBI Gene:57159, OMIM:606474, RefSeq DNA:NT_022184, RefSeq Protein:NP_115935, RefSeq Protein:NP_912730, RefSeq RNA:NM_032546, RefSeq RNA:NM_187841, UCSC Genome Browser:NM_032546, UniProtKB:Q9BYV2 No chr2 27505297 27530307 27282429 27307439 +PA34432 84675 HGNC:14215 ENSG00000147573 tripartite motif containing 55 TRIM55 MURF-2, RNF29 Yes No Comparative Toxicogenomics Database:84675, Ensembl:ENSG00000147573, GenAtlas:TRIM55, GeneCard:TRIM55, HGNC:HGNC:14215, HumanCyc Gene:HS07449, ModBase:Q9BYV6, NCBI Gene:84675, OMIM:606469, RefSeq DNA:NT_008183, RefSeq Protein:NP_149047, RefSeq Protein:NP_908973, RefSeq Protein:NP_908974, RefSeq Protein:NP_908975, RefSeq RNA:NM_033058, RefSeq RNA:NM_184085, RefSeq RNA:NM_184086, RefSeq RNA:NM_184087, UCSC Genome Browser:NM_033058, UniProtKB:Q9BYV6 No chr8 67039131 67087720 66112667 66175485 +PA134958549 81844 HGNC:19028 ENSG00000169871 tripartite motif containing 56 TRIM56 RNF109 Yes No Comparative Toxicogenomics Database:81844, Ensembl:ENSG00000169871, GeneCard:TRIM56, HGNC:HGNC:19028, HumanCyc Gene:HS10022, ModBase:Q9BRZ2, NCBI Gene:81844, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_112223, RefSeq RNA:NM_030961, UniProtKB:Q9BRZ2 No chr7 100728786 100733909 101085424 101097967 +PA134942549 25893 HGNC:24150 ENSG00000162722 tripartite motif containing 58 TRIM58 BIA2 Yes No Ensembl:ENSG00000162722, GeneCard:TRIM58, HGNC:HGNC:24150, HumanCyc Gene:HS14957, ModBase:Q8NG06, NCBI Gene:25893, RefSeq DNA:NT_167186, RefSeq Protein:NP_056246, RefSeq RNA:NM_015431, UniProtKB:Q8NG06 No chr1 247803007 248043440 247857199 247880138 +PA134899610 286827 HGNC:30834 ENSG00000213186 tripartite motif containing 59 TRIM59 Mrf1, RNF104, TRIM57, TSBF1 Yes No Ensembl:ENSG00000213186, GeneCard:TRIM59, HGNC:HGNC:30834, ModBase:Q8IWR1, NCBI Gene:286827, RefSeq DNA:NT_005612, RefSeq Protein:NP_775107, RefSeq RNA:NM_173084, UniProtKB:Q8IWR1 No chr3 160153291 160167626 160435503 160449838 +PA38110 117854 HGNC:16277 ENSG00000121236 tripartite motif containing 6 TRIM6 RNF89 Yes No Comparative Toxicogenomics Database:117854, Ensembl:ENSG00000121236, GenAtlas:TRIM6, GeneCard:TRIM6, HGNC:HGNC:16277, ModBase:Q9C030, NCBI Gene:117854, OMIM:607564, RefSeq DNA:NT_009237, RefSeq Protein:NP_001003818, RefSeq Protein:NP_001185573, RefSeq Protein:NP_001185574, RefSeq Protein:NP_477514, RefSeq RNA:NM_001003818, RefSeq RNA:NM_001198644, RefSeq RNA:NM_001198645, RefSeq RNA:NM_058166, UCSC Genome Browser:NM_058166, UniProtKB:Q9C030 No chr11 5617331 5634188 5596101 5612958 +PA134909634 166655 HGNC:21162 ENSG00000176979 tripartite motif containing 60 TRIM60 FLJ35882, RNF129, RNF33 Yes No Ensembl:ENSG00000176979, GeneCard:TRIM60, HGNC:HGNC:21162, HumanCyc Gene:HS11116, ModBase:Q495X7, NCBI Gene:166655, RefSeq DNA:NT_016354, RefSeq Protein:NP_689833, RefSeq RNA:NM_152620, UniProtKB:Q495X7 No chr4 165953151 165962896 165031953 165041821 +PA134868214 391712 HGNC:24339 ENSG00000183439 tripartite motif containing 61 TRIM61 RNF35 Yes No Ensembl:ENSG00000183439, GeneCard:TRIM61, HGNC:HGNC:24339, ModBase:Q5EBN2, NCBI Gene:391712, RefSeq DNA:NT_016354, RefSeq Protein:NP_001012414, RefSeq RNA:NM_001012414, UniProtKB:Q5EBN2 No chr4 165875598 165898818 164954446 164977666 +PA134890243 55223 HGNC:25574 ENSG00000116525 tripartite motif containing 62 TRIM62 ductal epithelium-associated RING Chromosome 1 DEAR1, FLJ10759 Yes No Ensembl:ENSG00000116525, GeneCard:TRIM62, HGNC:HGNC:25574, HumanCyc Gene:HS04018, ModBase:Q9BVG3, NCBI Gene:55223, RefSeq DNA:NT_032977, RefSeq Protein:NP_060677, RefSeq RNA:NM_018207, UniProtKB:Q9BVG3 No chr1 33611000 33647671 33144603 33184774 +PA34431 84676 HGNC:16007 ENSG00000158022 tripartite motif containing 63 TRIM63 """iris ring finger protein"", ""muscle-specific RING finger protein 1"", ""striated muscle RING zinc finger protein"", ""tripartite motif containing 63, E3 ubiquitin protein ligase""" IRF, MURF-1, RNF28, SMRZ Yes No Comparative Toxicogenomics Database:84676, Ensembl:ENSG00000158022, GenAtlas:TRIM63, GeneCard:TRIM63, HGNC:HGNC:16007, HumanCyc Gene:HS08262, ModBase:Q969Q1, NCBI Gene:84676, OMIM:606131, RefSeq DNA:NT_004610, RefSeq Protein:NP_115977, RefSeq RNA:NM_032588, UCSC Genome Browser:NM_032588, UniProtKB:Q969Q1 No chr1 26377792 26394142 26051304 26067634 +PA25492 120146 HGNC:14663 ENSG00000204450 tripartite motif containing 64 TRIM64 C11orf28, TRIM64A Yes No Ensembl:ENSG00000204450, GenAtlas:TRIM64, GeneCard:TRIM64, HGNC:HGNC:14663, ModBase:A6NGJ6, NCBI Gene:120146, RefSeq DNA:NT_167190, RefSeq Protein:NP_001129958, RefSeq RNA:NM_001136486, UniProtKB:A6NGJ6 No chr11 89701672 89707240 89966068 89974147 +PA165543724 642446 HGNC:37147 ENSG00000189253 tripartite motif containing 64B TRIM64B Yes No Ensembl:ENSG00000189253, GeneCard:TRIM64B, HGNC:HGNC:37147, NCBI Gene:642446, RefSeq DNA:NT_167190, RefSeq Protein:NP_001157869, RefSeq Protein:XP_931052, RefSeq RNA:NM_001164397, RefSeq RNA:XM_925959, UniProtKB:A6NI03 No chr11 89603606 89609185 89870188 89878456 +PA165543740 646754 HGNC:37148 ENSG00000214891 tripartite motif containing 64C TRIM64C Yes No Ensembl:ENSG00000214891, GeneCard:TRIM64C, HGNC:HGNC:37148, NCBI Gene:646754, RefSeq DNA:NT_009237, RefSeq Protein:NP_001193560, RefSeq Protein:XP_001716391, RefSeq Protein:XP_001718169, RefSeq Protein:XP_002343104, RefSeq Protein:XP_002344592, RefSeq Protein:XP_002347244, RefSeq Protein:XP_934797, RefSeq RNA:NM_001206631, RefSeq RNA:XM_001716339, RefSeq RNA:XM_001718117, RefSeq RNA:XM_002343063, RefSeq RNA:XM_002344551, RefSeq RNA:XM_002347203, RefSeq RNA:XM_929704 No chr11 49075266 49080664 49053714 49059112 +PA134877726 201292 HGNC:27316 ENSG00000141569 tripartite motif containing 65 TRIM65 Yes No Ensembl:ENSG00000141569, GeneCard:TRIM65, HGNC:HGNC:27316, HumanCyc Gene:HS13894, ModBase:Q6PJ69, NCBI Gene:201292, RefSeq DNA:NT_010783, RefSeq Protein:NP_775818, RefSeq RNA:NM_173547, UniProtKB:Q6PJ69, UniProtKB:Q96DX1 No chr17 73885041 73893084 75880379 75897008 +PA134954583 9866 HGNC:29005 ENSG00000166436 tripartite motif containing 66 TRIM66 C11orf29, KIAA0298, TIF1D Yes No Ensembl:ENSG00000166436, GeneCard:TRIM66, HGNC:HGNC:29005, ModBase:O15016, NCBI Gene:9866, OMIM:612000, RefSeq DNA:NT_009237, RefSeq Protein:NP_055633, RefSeq RNA:NM_014818, UniProtKB:O15016 No chr11 8633584 8704205 8612037 8683217 +PA134947738 440730 HGNC:31859 ENSG00000119283 tripartite motif containing 67 TRIM67 TNL Yes No Ensembl:ENSG00000119283, GeneCard:TRIM67, HGNC:HGNC:31859, NCBI Gene:440730, OMIM:610584, RefSeq DNA:NT_167186, RefSeq Protein:NP_001004342, RefSeq RNA:NM_001004342, UniProtKB:Q6ZTA4 No chr1 231298674 231357314 231162928 231221568 +PA134939870 55128 HGNC:21161 ENSG00000167333 tripartite motif containing 68 TRIM68 FLJ10369, RNF137, SS-56 Yes No Comparative Toxicogenomics Database:55128, Ensembl:ENSG00000167333, GeneCard:TRIM68, HGNC:HGNC:21161, HumanCyc Gene:HS09543, ModBase:Q6AZZ1, NCBI Gene:55128, OMIM:613184, RefSeq DNA:NT_009237, RefSeq Protein:NP_060543, RefSeq RNA:NM_018073, UniProtKB:Q6AZZ1 No chr11 4619902 4629489 4598672 4608259 +PA162407010 140691 HGNC:17857 ENSG00000185880 tripartite motif containing 69 TRIM69 RNF36, TRIMLESS, Trif Yes No Ensembl:ENSG00000185880, GeneCard:TRIM69, HGNC:HGNC:17857, ModBase:Q86WT6, NCBI Gene:140691, RefSeq DNA:NT_010194, RefSeq Protein:NP_542783, RefSeq Protein:NP_892030, RefSeq RNA:NM_080745, RefSeq RNA:NM_182985, UniProtKB:Q86WT6 No chr15 45028314 45060027 44736362 44767829 +PA162406977 445372 HGNC:33440 ENSG00000258588 TRIM6-TRIM34 readthrough TRIM6-TRIM34 Yes No Ensembl:ENSG00000258588, GeneCard:TRIM6-TRIM34, HGNC:HGNC:33440, NCBI Gene:445372, RefSeq DNA:NT_009237, RefSeq Protein:NP_001003819, RefSeq RNA:NM_001003819, UniProtKB:A6NC63 No chr11 5617865 5665628 5596635 5644398 +PA38398 81786 HGNC:16278 ENSG00000146054 tripartite motif containing 7 TRIM7 glycogenin-interacting protein, tripartite motif protein TRIM7 GNIP, RNF90 Yes No Ensembl:ENSG00000146054, GenAtlas:TRIM7, GeneCard:TRIM7, HGNC:HGNC:16278, ModBase:Q9C029, NCBI Gene:81786, OMIM:609315, RefSeq DNA:NT_023133, RefSeq Protein:NP_203128, RefSeq Protein:NP_976038, RefSeq Protein:NP_976039, RefSeq Protein:NP_976040, RefSeq Protein:NP_976041, RefSeq Protein:NP_976042, RefSeq RNA:NM_033342, RefSeq RNA:NM_203293, RefSeq RNA:NM_203294, RefSeq RNA:NM_203295, RefSeq RNA:NM_203296, RefSeq RNA:NM_203297, UCSC Genome Browser:NM_033342, UniProtKB:Q9C029 No chr5 180620924 180632293 181193924 181206000 +PA144596246 131405 HGNC:32669 ENSG00000206557 tripartite motif containing 71 TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase LIN-41, LIN41 Yes No Ensembl:ENSG00000206557, GeneCard:TRIM71, HGNC:HGNC:32669, ModBase:Q2Q1W2, NCBI Gene:131405, RefSeq DNA:NT_022517, RefSeq Protein:NP_001034200, RefSeq RNA:NM_001039111, UniProtKB:Q2Q1W2 No chr3 32859510 32933771 32818018 32897826 +PA144596247 493829 HGNC:32671 ENSG00000177238 tripartite motif containing 72 TRIM72 """mitsugumin 53"", ""tripartite motif containing 72"", ""tripartite motif containing 72, E3 ubiquitin protein ligase""" MG53 Yes No Ensembl:ENSG00000177238, GeneCard:TRIM72, HGNC:HGNC:32671, NCBI Gene:493829, OMIM:613288, RefSeq DNA:NT_010393, RefSeq Protein:NP_001008275, RefSeq RNA:NM_001008274, UniProtKB:Q6ZMU5 No chr16 31225342 31236510 31214021 31225656 +PA38510 375593 HGNC:18162 ENSG00000178809 tripartite motif containing 73 TRIM73 TRIM50B Yes No Ensembl:ENSG00000178809, GenAtlas:TRIM73, GeneCard:TRIM73, HGNC:HGNC:18162, ModBase:Q86UV7, NCBI Gene:375593, OMIM:612549, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_944606, RefSeq RNA:NM_198924, UniProtKB:Q86UV7 No chr7 75021234 75034896 75395629 75405613 +PA38454 378108 HGNC:17453 ENSG00000155428 tripartite motif containing 74 TRIM74 MGC45440, TRIM50C Yes No Ensembl:ENSG00000155428, GenAtlas:TRIM74, GeneCard:TRIM74, HGNC:HGNC:17453, ModBase:Q86UV6, NCBI Gene:378108, OMIM:612550, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_942150, RefSeq RNA:NM_198853, UniProtKB:Q86UV6 No chr7 72430016 72439997 72954845 73005932 +PA144596248 391714 HGNC:32686 tripartite motif containing 75 TRIM75 TRIM75P Yes No GeneCard:TRIM75, HGNC:HGNC:32686, ModBase:A6NK02, NCBI Gene:391714, RefSeq DNA:NG_016722, RefSeq DNA:NT_016354, RefSeq Protein:NP_001099045, RefSeq RNA:NM_001105575 No chr4 165980120 165981714 165058968 165060562 +PA162407029 390231 HGNC:34228 ENSG00000214414 tripartite motif containing 77 TRIM77 TRIM77P Yes No Ensembl:ENSG00000214414, GeneCard:TRIM77, HGNC:HGNC:34228, NCBI Gene:390231, RefSeq DNA:NT_167190, RefSeq Protein:NP_001139634, RefSeq Protein:XP_002343148, RefSeq Protein:XP_002344647, RefSeq Protein:XP_002347299, RefSeq RNA:NM_001146162, RefSeq RNA:XM_002343107, RefSeq RNA:XM_002344606, RefSeq RNA:XM_002347258 No chr11 89443467 89451040 89710299 89717872 +PA37983 81603 HGNC:15579 ENSG00000171206 tripartite motif containing 8 TRIM8 E3 ubiquitin-protein ligase TRIM8, glioblastoma expressed ring finger protein GERP, RNF27 Yes No Comparative Toxicogenomics Database:81603, Ensembl:ENSG00000171206, GenAtlas:TRIM8, GeneCard:TRIM8, HGNC:HGNC:15579, HumanCyc Gene:HS10265, ModBase:Q9BZR9, NCBI Gene:81603, OMIM:606125, RefSeq DNA:NT_030059, RefSeq Protein:NP_112174, RefSeq RNA:NM_030912, UCSC Genome Browser:NM_030912, UniProtKB:Q9BZR9 No chr10 104403326 104418076 102644484 102658319 +PA38116 114088 HGNC:16288 ENSG00000100505 tripartite motif containing 9 TRIM9 SNAP-25-interacting RING finger protein RNF91, SPRING Yes No Ensembl:ENSG00000100505, GenAtlas:TRIM9, GeneCard:TRIM9, HGNC:HGNC:16288, HumanCyc Gene:HS02100, ModBase:Q9C026, NCBI Gene:114088, OMIM:606555, RefSeq DNA:NT_026437, RefSeq Protein:NP_055978, RefSeq Protein:NP_443210, RefSeq RNA:NM_015163, RefSeq RNA:NM_052978, UCSC Genome Browser:NM_015163, UniProtKB:Q9C026 No chr14 51441979 51562422 50975261 51105173 +PA162407030 339976 HGNC:26698 ENSG00000184108 tripartite motif family like 1 TRIML1 tripartite motif family-like 1 FLJ36180, RNF209 Yes No Ensembl:ENSG00000184108, GeneCard:TRIML1, HGNC:HGNC:26698, ModBase:Q8N9V2, NCBI Gene:339976, RefSeq DNA:NT_016354, RefSeq Protein:NP_848651, RefSeq RNA:NM_178556, UniProtKB:Q8N9V2 No chr4 189060598 189068649 188138189 188150768 +PA162407031 205860 HGNC:26378 ENSG00000179046 tripartite motif family like 2 TRIML2 SPRY domain containing 6, tripartite motif family-like 2 FLJ25801, SPRYD6 Yes No Ensembl:ENSG00000179046, GeneCard:TRIML2, HGNC:HGNC:26378, HumanCyc Gene:HS17186, ModBase:Q8N7C3, NCBI Gene:205860, RefSeq DNA:NT_016354, RefSeq Protein:NP_775824, RefSeq RNA:NM_173553, UniProtKB:Q8N7C3 No chr4 189012427 189030416 188091255 188109603 +PA36982 7204 HGNC:12303 ENSG00000038382 trio Rho guanine nucleotide exchange factor TRIO ARHGEF23 Yes No Comparative Toxicogenomics Database:7204, Ensembl:ENSG00000038382, GenAtlas:TRIO, GeneCard:TRIO, HGNC:HGNC:12303, HumanCyc Gene:HS00534, ModBase:O75962, NCBI Gene:7204, OMIM:601893, RefSeq DNA:NT_006576, RefSeq Protein:NP_009049, RefSeq RNA:NM_007118, UCSC Genome Browser:NM_007118, UniProtKB:O75962 No chr5 14143817 14510313 14143350 14510204 +PA142670699 11078 HGNC:17009 ENSG00000100106 TRIO and F-actin binding protein TRIOBP DFNB28, HRIHFB2122, KIAA1662, TAP68, Tara Yes No Comparative Toxicogenomics Database:11078, Ensembl:ENSG00000100106, GenAtlas:TRIOBP, GeneCard:TRIOBP, HGNC:HGNC:17009, HumanCyc Gene:HS01978, ModBase:Q96DW1, NCBI Gene:11078, OMIM:609761, OMIM:609823, RefSeq DNA:NG_012857, RefSeq DNA:NT_011520, RefSeq Protein:NP_001034230, RefSeq Protein:NP_008963, RefSeq Protein:NP_619538, RefSeq RNA:NM_001039141, RefSeq RNA:NM_007032, RefSeq RNA:NM_138632, UniProtKB:Q9H2D6 No chr22 38092995 38172563 37696988 37776556 +PA36983 9322 HGNC:12304 ENSG00000125733 thyroid hormone receptor interactor 10 TRIP10 Cdc42-interacting protein CIP4, HSTP, STOT, STP Yes No Comparative Toxicogenomics Database:9322, Ensembl:ENSG00000125733, GenAtlas:TRIP10, GeneCard:TRIP10, HGNC:HGNC:12304, HumanCyc Gene:HS04920, ModBase:Q96RJ1, NCBI Gene:9322, OMIM:604504, RefSeq DNA:NT_011255, RefSeq Protein:NP_004231, RefSeq RNA:NM_004240, UCSC Genome Browser:NM_004240, UniProtKB:Q15642 No chr19 6739693 6751529 6739682 6751526 +PA36984 9321 HGNC:12305 ENSG00000100815 thyroid hormone receptor interactor 11 TRIP11 golgi-microtubule-associated-protein of 210 kDa CEV14, GMAP-210, GMAP210, Trip230 Yes No Comparative Toxicogenomics Database:9321, Ensembl:ENSG00000100815, GenAtlas:TRIP11, GeneCard:TRIP11, HGNC:HGNC:12305, HumanCyc Gene:HS02148, ModBase:Q15643, NCBI Gene:9321, OMIM:200600, OMIM:604505, RefSeq DNA:NG_016970, RefSeq DNA:NT_026437, RefSeq Protein:NP_004230, RefSeq RNA:NM_004239, UCSC Genome Browser:NM_004239, UniProtKB:B2RUT2, UniProtKB:Q15643, UniProtKB:Q6MZL5 No chr14 92434243 92506484 91965991 92040140 +PA36985 9320 HGNC:12306 ENSG00000153827 thyroid hormone receptor interactor 12 TRIP12 E3 ubiquitin-protein ligase for Arf KIAA0045, TRIPC, ULF Yes No Comparative Toxicogenomics Database:9320, Ensembl:ENSG00000153827, GenAtlas:TRIP12, GeneCard:TRIP12, HGNC:HGNC:12306, HumanCyc Gene:HS07925, ModBase:Q14669, NCBI Gene:9320, OMIM:604506, RefSeq DNA:NT_005403, RefSeq Protein:NP_004229, RefSeq RNA:NM_004238, UCSC Genome Browser:NM_004238, UniProtKB:Q14669 No chr2 230631098 230786763 229763837 229923234 +PA36986 9319 HGNC:12307 ENSG00000071539 thyroid hormone receptor interactor 13 TRIP13 thyroid receptor interacting protein 13 16E1BP Yes No Comparative Toxicogenomics Database:9319, Ensembl:ENSG00000071539, GenAtlas:TRIP13, GeneCard:TRIP13, HGNC:HGNC:12307, HumanCyc Gene:HS01033, ModBase:Q15645, NCBI Gene:9319, OMIM:604507, RefSeq DNA:NT_006576, RefSeq Protein:NP_001159732, RefSeq Protein:NP_004228, RefSeq RNA:NM_001166260, RefSeq RNA:NM_004237, UCSC Genome Browser:NM_004237, UniProtKB:Q15645 No chr5 892764 918164 892854 919348 +PA36988 9325 HGNC:12310 ENSG00000103671 thyroid hormone receptor interactor 4 TRIP4 """Activating Signal Cointegrator-1"", ""zinc finger, C2HC5-type""" ASC-1, HsT17391, ZC2HC5 Yes No Comparative Toxicogenomics Database:9325, Ensembl:ENSG00000103671, GenAtlas:TRIP4, GeneCard:TRIP4, HGNC:HGNC:12310, HumanCyc Gene:HS02528, ModBase:Q15650, NCBI Gene:9325, OMIM:604501, RefSeq DNA:NT_010194, RefSeq Protein:NP_057297, RefSeq RNA:NM_016213, UCSC Genome Browser:NM_016213, UniProtKB:Q15650 No chr15 64680003 64747502 64387804 64455303 +PA36989 7205 HGNC:12311 ENSG00000087077 thyroid hormone receptor interactor 6 TRIP6 MGC10556, MGC10558, MGC29959, MGC3837, MGC4423, OIP1, ZRP-1 Yes No Comparative Toxicogenomics Database:7205, Ensembl:ENSG00000087077, GenAtlas:TRIP6, GeneCard:TRIP6, HGNC:HGNC:12311, HumanCyc Gene:HS01551, ModBase:Q15654, NCBI Gene:7205, OMIM:602933, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_003293, RefSeq RNA:NM_003302, UCSC Genome Browser:NM_003302, UniProtKB:Q15654 No chr7 100464950 100471076 100867328 100873454 +PA164717477 286144 HGNC:27828 ENSG00000205133 triple QxxK/R motif containing TRIQK C8orf83, DKFZp779L1068, LOC286144, PRO0845 Yes No Ensembl:ENSG00000205133, GeneCard:C8orf83, HGNC:HGNC:27828, NCBI Gene:286144, RefSeq DNA:NT_008046, RefSeq Protein:NP_001165266, RefSeq Protein:NP_001165267, RefSeq Protein:NP_001165268, RefSeq Protein:NP_001165269, RefSeq Protein:NP_001165270, RefSeq Protein:NP_001177964, RefSeq Protein:NP_001177965, RefSeq RNA:NM_001171795, RefSeq RNA:NM_001171796, RefSeq RNA:NM_001171797, RefSeq RNA:NM_001171798, RefSeq RNA:NM_001171799, RefSeq RNA:NM_001191035, RefSeq RNA:NM_001191036, RefSeq RNA:NR_015339, UniProtKB:Q629K1 No chr8 93895758 93978372 92883530 92966150 +PA144596476 79002 HGNC:28424 ENSG00000123144 telomerase RNA component interacting RNase TRIR chromosome 19 open reading frame 43, functional spliceosome-associated protein 18 C19orf43, MGC2803, TERCIR, fSAP18 Yes No Ensembl:ENSG00000123144, GeneCard:C19orf43, HGNC:HGNC:28424, HumanCyc Gene:HS13078, ModBase:Q9BQ61, NCBI Gene:79002, RefSeq DNA:NT_011295, RefSeq Protein:NP_076943, RefSeq RNA:NM_024038, UniProtKB:Q9BQ61 No chr19 12841454 12845529 12730640 12734715 +PA134943037 54802 HGNC:20286 ENSG00000043514 tRNA isopentenyltransferase 1 TRIT1 IPP transferase, tRNA dimethylallyltransferase FLJ20061, IPT Yes No Ensembl:ENSG00000043514, GeneCard:TRIT1, HGNC:HGNC:20286, HumanCyc Gene:HS00571, ModBase:Q9H3H1, NCBI Gene:54802, RefSeq DNA:NT_032977, RefSeq Protein:NP_060116, RefSeq RNA:NM_017646, UniProtKB:Q53F11, UniProtKB:Q9H3H1 No chr1 40306703 40349177 39841031 39883511 +PA134875112 51531 HGNC:30967 ENSG00000136932 tRNA methyltransferase O TRMO Nef (lentivirus myristoylated factor) associated protein 1, chromosome 9 open reading frame 156 C9orf156, HSPC219, NAP1 Yes No Ensembl:ENSG00000136932, GeneCard:C9orf156, HGNC:HGNC:30967, HumanCyc Gene:HS06247, ModBase:Q9BU70, NCBI Gene:51531, RefSeq DNA:NT_008470, RefSeq Protein:NP_057565, RefSeq RNA:NM_016481, UniProtKB:Q9BU70 No chr9 100662380 100684852 97876321 97922570 +PA134867808 55621 HGNC:25980 ENSG00000104907 tRNA methyltransferase 1 TRMT1 tRNA methyltransferase 1 homolog (S. cerevisiae) FLJ20244, TRM1 Yes No Comparative Toxicogenomics Database:55621, Ensembl:ENSG00000104907, GeneCard:TRMT1, HGNC:HGNC:25980, HumanCyc Gene:HS02653, ModBase:Q9NXH9, NCBI Gene:55621, OMIM:611669, RefSeq DNA:NT_011295, RefSeq Protein:NP_001129507, RefSeq Protein:NP_001136026, RefSeq Protein:NP_060192, RefSeq RNA:NM_001136035, RefSeq RNA:NM_001142554, RefSeq RNA:NM_017722, UniProtKB:A8K8L2, UniProtKB:Q9NXH9 No chr19 13215714 13227573 13104900 13117568 +PA134979919 93587 HGNC:28403 ENSG00000145331 tRNA methyltransferase 10A TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae) MGC27034, RG9MTD2, TRM10 Yes No Comparative Toxicogenomics Database:93587, Ensembl:ENSG00000145331, GeneCard:RG9MTD2, HGNC:HGNC:28403, HumanCyc Gene:HS14083, ModBase:Q8TBZ6, NCBI Gene:93587, RefSeq DNA:NT_016354, RefSeq Protein:NP_001128137, RefSeq Protein:NP_001128138, RefSeq Protein:NP_689505, RefSeq RNA:NM_001134665, RefSeq RNA:NM_001134666, RefSeq RNA:NM_152292, UniProtKB:Q8TBZ6 No chr4 100467864 100485189 99546707 99564057 +PA134938884 158234 HGNC:26454 ENSG00000165275 tRNA methyltransferase 10B TRMT10B tRNA methyltransferase 10 homolog B (S. cerevisiae) FLJ31455, RG9MTD3, bA3J10.9 Yes No Ensembl:ENSG00000165275, GeneCard:RG9MTD3, HGNC:HGNC:26454, HumanCyc Gene:HS09211, ModBase:Q6PF06, NCBI Gene:158234, RefSeq DNA:NT_008413, RefSeq Protein:NP_659401, RefSeq RNA:NM_144964, UniProtKB:Q6PF06 No chr9 37753797 37778969 37753204 37780459 +PA134988378 54931 HGNC:26022 ENSG00000174173 tRNA methyltransferase 10C, mitochondrial RNase P subunit TRMT10C mitochondrial RNase P subunit 1, tRNA methyltransferase 10 homolog C (S. cerevisiae) FLJ20432, MRPP1, RG9MTD1 Yes No Ensembl:ENSG00000174173, GeneCard:RG9MTD1, HGNC:HGNC:26022, HumanCyc Gene:HS16307, ModBase:Q7L0Y3, NCBI Gene:54931, RefSeq DNA:NT_005612, RefSeq Protein:NP_060289, RefSeq RNA:NM_017819, UniProtKB:Q7L0Y3 No chr3 101280680 101285290 101561836 101566446 +PA162407032 60487 HGNC:21080 ENSG00000066651 tRNA methyltransferase 11 homolog TRMT11 tRNA methyltransferase 11 homolog (S. cerevisiae) C6orf75, MDS024, TRM11, TRMT11-1, dJ187J11.2 Yes No Ensembl:ENSG00000066651, GeneCard:TRMT11, HGNC:HGNC:21080, HumanCyc Gene:HS00885, ModBase:Q7Z4G4, NCBI Gene:60487, RefSeq DNA:NT_025741, RefSeq Protein:NP_001026882, RefSeq RNA:NM_001031712, UniProtKB:Q7Z4G4 No chr6 126307576 126360422 125986430 126083131 +PA165543757 51504 HGNC:26940 ENSG00000173113 tRNA methyltransferase activator subunit 11-2 TRMT112 tRNA methyltransferase 11-2 homolog (S. cerevisiae), tRNA methyltransferase subunit 11-2 HSPC152, HSPC170, TRM112, TRMT11-2, hTrm112 Yes No Ensembl:ENSG00000173113, GeneCard:TRMT112, HGNC:HGNC:26940, HumanCyc Gene:HS16172, NCBI Gene:51504, RefSeq DNA:NT_167190, RefSeq Protein:NP_057488, RefSeq RNA:NM_016404, UniProtKB:Q9UI30 No chr11 64084163 64085455 64316492 64318084 +PA142670700 55039 HGNC:26091 ENSG00000183665 tRNA methyltransferase 12 homolog TRMT12 tRNA methyltransferase 12 homolog (S. cerevisiae), tRNA-yW synthesizing protein 2 FLJ20772, TYW2, Trm12 Yes No Ensembl:ENSG00000183665, GeneCard:TRMT12, HGNC:HGNC:26091, ModBase:Q53H54, NCBI Gene:55039, OMIM:611244, RefSeq DNA:NT_008046, RefSeq Protein:NP_060426, RefSeq RNA:NM_017956, UniProtKB:Q53H54 No chr8 125463048 125465267 124450807 124453026 +PA143485428 54482 HGNC:25502 ENSG00000122435 tRNA methyltransferase 13 homolog TRMT13 tRNA methyltransferase 13 homolog (S. cerevisiae) CCDC76, FLJ10287, FLJ11219 Yes No Ensembl:ENSG00000122435, GeneCard:CCDC76, HGNC:HGNC:25502, HumanCyc Gene:HS13051, NCBI Gene:54482, RefSeq DNA:NT_032977, RefSeq Protein:NP_061956, RefSeq RNA:NM_019083, UniProtKB:Q9NUP7 No chr1 100598669 100616054 100133080 100150498 +PA25612 81627 HGNC:16782 ENSG00000121486 tRNA methyltransferase 1 like TRMT1L TRM1-like, tRNA methyltransferase 1 homolog (S. cerevisiae)-like C1orf25 Yes No Ensembl:ENSG00000121486, GenAtlas:C1orf25, GeneCard:C1orf25, HGNC:HGNC:16782, HumanCyc Gene:HS04500, ModBase:Q7Z2T5, NCBI Gene:81627, OMIM:611673, RefSeq DNA:NT_004487, RefSeq Protein:NP_001189352, RefSeq Protein:NP_112196, RefSeq RNA:NM_001202423, RefSeq RNA:NM_030934, UCSC Genome Browser:NM_030934, UniProtKB:Q7Z2T5 No chr1 185087217 185126230 185118085 185157098 +PA164726751 27037 HGNC:24974 ENSG00000099899 tRNA methyltransferase 2 homolog A TRMT2A HpaII tiny fragments locus 9C, tRNA methyltransferase 2 homolog A (S. cerevisiae) HTF9C Yes No Ensembl:ENSG00000099899, GeneCard:TRMT2A, HGNC:HGNC:24974, HumanCyc Gene:HS01927, ModBase:Q8IZ69, NCBI Gene:27037, OMIM:611151, RefSeq DNA:NT_011519, RefSeq Protein:NP_073564, RefSeq Protein:NP_892029, RefSeq RNA:NM_022727, RefSeq RNA:NM_182984, UniProtKB:Q8IZ69 No chr22 20099389 20104818 20111866 20117305 +PA164726782 79979 HGNC:25748 ENSG00000188917 tRNA methyltransferase 2 homolog B TRMT2B tRNA methyltransferase 2 homolog B (S. cerevisiae) CXorf34, FLJ12687 Yes No Ensembl:ENSG00000188917, GeneCard:TRMT2B, HGNC:HGNC:25748, HumanCyc Gene:HS02386, ModBase:Q9H9K2, NCBI Gene:79979, RefSeq DNA:NG_015971, RefSeq DNA:NT_011651, RefSeq Protein:NP_001161442, RefSeq Protein:NP_001161443, RefSeq Protein:NP_001161444, RefSeq Protein:NP_079193, RefSeq RNA:NM_001167970, RefSeq RNA:NM_001167971, RefSeq RNA:NM_001167972, RefSeq RNA:NM_024917, UniProtKB:Q96GJ1 No chrX 100264334 100307105 100973358 101052118 +PA145008869 152992 HGNC:26653 ENSG00000155275 tRNA methyltransferase 44 homolog TRMT44 tRNA methyltransferase 44 homolog (S. cerevisiae) C4orf23, FLJ35725, METTL19, TRM44 Yes No Ensembl:ENSG00000155275, GeneCard:C4orf23, HGNC:HGNC:26653, HumanCyc Gene:HS14560, NCBI Gene:152992, RefSeq DNA:NT_006051, RefSeq Protein:NP_689757, RefSeq RNA:NM_152544, UniProtKB:Q8IYL2 No chr4 8442532 8478282 8440774 8512531 +PA134952106 57570 HGNC:23141 ENSG00000126814 tRNA methyltransferase 5 TRMT5 tRNA (guanine(37)-N1)-methyltransferase, tRNA methyltransferase 5 homolog (S. cerevisiae) KIAA1393, TRM5 Yes No Ensembl:ENSG00000126814, GeneCard:TRMT5, HGNC:HGNC:23141, ModBase:Q32P41, NCBI Gene:57570, OMIM:611023, RefSeq DNA:NT_026437, RefSeq Protein:NP_065861, RefSeq RNA:NM_020810, UniProtKB:Q32P41 No chr14 61438159 61447888 60971441 60981170 +PA162407063 51605 HGNC:20900 ENSG00000089195 tRNA methyltransferase 6 non-catalytic subunit TRMT6 tRNA methyltransferase 6, tRNA methyltransferase 6 homolog (S. cerevisiae) CGI-09, GCD10, Gcd10p, MGC5029 Yes No Ensembl:ENSG00000089195, GeneCard:TRMT6, HGNC:HGNC:20900, HumanCyc Gene:HS12320, ModBase:Q9UJA5, NCBI Gene:51605, RefSeq DNA:NT_011387, RefSeq Protein:NP_057023, RefSeq RNA:NM_015939, UniProtKB:Q9UJA5 No chr20 5918479 5931204 5937832 5950558 +PA164726783 115708 HGNC:23790 ENSG00000166166 tRNA methyltransferase 61A TRMT61A tRNA methyltransferase 61 homolog A (S. cerevisiae) C14orf172, FLJ40452, GCD14, Gcd14p, hTRM61 Yes No Ensembl:ENSG00000166166, GeneCard:TRMT61A, HGNC:HGNC:23790, HumanCyc Gene:HS09345, ModBase:Q96FX7, NCBI Gene:115708, RefSeq DNA:NT_026437, RefSeq Protein:NP_689520, RefSeq RNA:NM_152307, UniProtKB:Q96FX7 No chr14 103995509 104003410 103529172 103537073 +PA164726796 55006 HGNC:26070 ENSG00000171103 tRNA methyltransferase 61B TRMT61B tRNA methyltransferase 61 homolog B (S. cerevisiae) FLJ20628 Yes No Ensembl:ENSG00000171103, GeneCard:TRMT61B, HGNC:HGNC:26070, HumanCyc Gene:HS10243, NCBI Gene:55006, RefSeq DNA:NT_022184, RefSeq Protein:NP_060380, RefSeq RNA:NM_017910, UniProtKB:Q9BVS5 No chr2 29072687 29093175 28849821 28870309 +PA143485343 57604 HGNC:26725 ENSG00000250305 tRNA methyltransferase 9B (putative) TRMT9B C8orf79, FLJ36980, KIAA1456, TRM9L, hTRM9L Yes No Ensembl:ENSG00000250305, GeneCard:C8orf79, HGNC:HGNC:26725, ModBase:Q9P272, NCBI Gene:57604, RefSeq DNA:NT_167187, RefSeq Protein:NP_001093147, RefSeq Protein:NP_065895, RefSeq RNA:NM_001099677, RefSeq RNA:NM_020844, UniProtKB:Q9P272 No chr8 12803183 12887286 12945674 13029777 +PA142670701 55687 HGNC:25481 ENSG00000100416 tRNA mitochondrial 2-thiouridylase TRMU mitochondrial tRNA-specific 2-thiouridylase 1, tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase FLJ10140, MTO2, MTU1, TRMT Yes No Comparative Toxicogenomics Database:55687, Ensembl:ENSG00000100416, GeneCard:TRMU, HGNC:HGNC:25481, ModBase:O75648, NCBI Gene:55687, OMIM:580000, OMIM:610230, OMIM:613070, RefSeq DNA:NG_012173, RefSeq DNA:NT_011520, RefSeq Protein:NP_060476, RefSeq RNA:NM_018006, UniProtKB:O75648 No chr22 46731298 46753237 46335401 46357340 +PA164727240 54952 HGNC:30813 ENSG00000180098 tRNA selenocysteine 1 associated protein 1 TRNAU1AP FLJ20503, SECP43, TRSPAP1 Yes No Comparative Toxicogenomics Database:54952, Ensembl:ENSG00000180098, GeneCard:TRNAU1AP, HGNC:HGNC:30813, HumanCyc Gene:HS11449, ModBase:Q9NX07, NCBI Gene:54952, RefSeq DNA:NT_004610, RefSeq Protein:NP_060316, RefSeq RNA:NM_017846, RefSeq RNA:NR_003109, UniProtKB:Q9NX07 No chr1 28879529 28905057 28553017 28578545 +PA164727311 388610 HGNC:34348 ENSG00000253368 TMF1 regulated nuclear protein 1 TRNP1 TMF1-regulated nuclear protein 1 C1orf225, LOC388610, TRNP Yes No Ensembl:ENSG00000253368, GeneCard:TRNP1, HGNC:HGNC:34348, NCBI Gene:388610, RefSeq DNA:NT_004610, RefSeq Protein:NP_001013664, RefSeq RNA:NM_001013642, UniProtKB:Q6NT89 No chr1 27320189 27327377 26993663 27000891 +PA38446 51095 HGNC:17341 ENSG00000072756 tRNA nucleotidyl transferase 1 TRNT1 """ATP(CTP):tRNA nucleotidyltransferase"", ""CCA-adding enzyme"", ""tRNA nucleotidyl transferase, CCA-adding, 1""" CCA1, CGI-47, MtCCA Yes No Comparative Toxicogenomics Database:51095, Ensembl:ENSG00000072756, GenAtlas:TRNT1, GeneCard:TRNT1, HGNC:HGNC:17341, HumanCyc Gene:HS01080, ModBase:Q96Q11, NCBI Gene:51095, OMIM:612907, RefSeq DNA:NT_022517, RefSeq Protein:NP_886552, RefSeq RNA:NM_182916, UCSC Genome Browser:NM_016000, UniProtKB:Q96Q11 No chr3 3168600 3190919 3126916 3153435 +PA37002 7216 HGNC:12326 ENSG00000067445 trophinin TRO KIAA1114, MAGE-D3, MAGED3 Yes No Ensembl:ENSG00000067445, GenAtlas:TRO, GeneCard:TRO, HGNC:HGNC:12326, HumanCyc Gene:HS00909, ModBase:Q12816, NCBI Gene:7216, OMIM:300132, RefSeq DNA:NG_012806, RefSeq DNA:NT_011630, RefSeq Protein:NP_001034794, RefSeq Protein:NP_057241, RefSeq Protein:NP_808224, RefSeq RNA:NM_001039705, RefSeq RNA:NM_016157, RefSeq RNA:NM_177556, UCSC Genome Browser:NM_016157, UniProtKB:Q12816, UniProtKB:Q7Z5G4, UniProtKB:Q96SX2, UniProtKB:Q9BX90 No chrX 54946996 54957864 54920563 54931436 +PA37003 10024 HGNC:12327 ENSG00000135451 trophinin associated protein TROAP TASTIN tastin Yes No Ensembl:ENSG00000135451, GenAtlas:TROAP, GeneCard:TROAP, HGNC:HGNC:12327, HumanCyc Gene:HS06009, ModBase:Q12815, NCBI Gene:10024, OMIM:603872, RefSeq DNA:NT_029419, RefSeq Protein:NP_001094090, RefSeq Protein:NP_005471, RefSeq RNA:NM_001100620, RefSeq RNA:NM_005480, UCSC Genome Browser:NM_005480, UniProtKB:Q12815, UniProtKB:Q6PJU7 No chr12 49716971 49725514 49322135 49331733 +PA24808 8989 HGNC:497 ENSG00000104321 transient receptor potential cation channel subfamily A member 1 TRPA1 transient receptor potential cation channel, subfamily A, member 1 ANKTM1 Yes Yes Comparative Toxicogenomics Database:8989, Ensembl:ENSG00000104321, GenAtlas:TRPA1, GeneCard:TRPA1, HGNC:HGNC:497, HumanCyc Gene:HS02563, IUPHAR Receptor:485, NCBI Gene:8989, OMIM:604775, RefSeq DNA:NT_008183, RefSeq Protein:NP_015628, RefSeq RNA:NM_007332, UCSC Genome Browser:NM_007332 No chr8 72933486 72987819 72021251 72094885 +PA357 7220 HGNC:12333 ENSG00000144935 transient receptor potential cation channel subfamily C member 1 TRPC1 transient receptor potential cation channel, subfamily C, member 1 HTRP-1 Yes No Ensembl:ENSG00000144935, GenAtlas:TRPC1, GeneCard:TRPC1, HGNC:HGNC:12333, HumanCyc Gene:HS07219, IUPHAR Receptor:486, ModBase:P48995, NCBI Gene:7220, OMIM:602343, RefSeq DNA:NT_005612, RefSeq Protein:NP_003295, RefSeq RNA:NM_003304, UCSC Genome Browser:NM_003304, UniProtKB:P48995 No chr3 142443266 142526730 142724032 142807888 +PA37007 7221 HGNC:12334 ENSG00000182048 transient receptor potential cation channel, subfamily C, member 2, pseudogene TRPC2 Yes No Ensembl:ENSG00000182048, GenAtlas:TRPC2, GeneCard:TRPC2, HGNC:HGNC:12334, IUPHAR Receptor:487, NCBI Gene:7221, RefSeq DNA:NT_009237, RefSeq RNA:NR_002720 No chr11 3647690 3658789 3626460 3637559 +PA37008 7222 HGNC:12335 ENSG00000138741 transient receptor potential cation channel subfamily C member 3 TRPC3 transient receptor potential cation channel, subfamily C, member 3 Yes No Ensembl:ENSG00000138741, GenAtlas:TRPC3, GeneCard:TRPC3, HGNC:HGNC:12335, HumanCyc Gene:HS06544, IUPHAR Receptor:488, ModBase:Q13507, NCBI Gene:7222, OMIM:602345, RefSeq DNA:NT_016354, RefSeq Protein:NP_001124170, RefSeq Protein:NP_003296, RefSeq RNA:NM_001130698, RefSeq RNA:NM_003305, UCSC Genome Browser:NM_003305, UniProtKB:Q13507, UniProtKB:Q5G1L5 No chr4 122800183 122872909 121879028 121952060 +PA37009 7223 HGNC:12336 ENSG00000133107 transient receptor potential cation channel subfamily C member 4 TRPC4 transient receptor potential cation channel, subfamily C, member 4 HTRP4, TRP4 Yes No Comparative Toxicogenomics Database:7223, Ensembl:ENSG00000133107, GenAtlas:TRPC4, GeneCard:TRPC4, HGNC:HGNC:12336, HumanCyc Gene:HS05734, IUPHAR Receptor:489, ModBase:Q9UBN4, NCBI Gene:7223, OMIM:603651, RefSeq DNA:NT_024524, RefSeq Protein:NP_001129427, RefSeq Protein:NP_001129428, RefSeq Protein:NP_001129429, RefSeq Protein:NP_001129430, RefSeq Protein:NP_003297, RefSeq Protein:NP_057263, RefSeq RNA:NM_001135955, RefSeq RNA:NM_001135956, RefSeq RNA:NM_001135957, RefSeq RNA:NM_001135958, RefSeq RNA:NM_003306, RefSeq RNA:NM_016179, UCSC Genome Browser:NM_016179, UniProtKB:Q3KR50, UniProtKB:Q3SWS6, UniProtKB:Q96P03, UniProtKB:Q96P05, UniProtKB:Q9UBN4 No chr13 38210773 38443939 37633872 37870374 +PA25730 26133 HGNC:16181 ENSG00000100991 transient receptor potential cation channel subfamily C member 4 associated protein TRPC4AP """protein phosphatase 1, regulatory subunit 158"", ""transient receptor potential cation channel, subfamily C, member 4 associated protein""" C20orf188, DKFZP727M231, DKFZp586C1223, PPP1R158, TRRP4AP, dJ756N5.2 Yes No Comparative Toxicogenomics Database:26133, Ensembl:ENSG00000100991, GenAtlas:TRPC4AP, GeneCard:TRPC4AP, HGNC:HGNC:16181, HumanCyc Gene:HS12433, ModBase:Q8TEL6, NCBI Gene:26133, OMIM:608430, RefSeq DNA:NT_011362, RefSeq Protein:NP_056453, RefSeq Protein:NP_955400, RefSeq RNA:NM_015638, RefSeq RNA:NM_199368, UCSC Genome Browser:NM_015638, UniProtKB:Q8TEL6 No chr20 33590207 33680618 35002404 35092837 +PA37010 7224 HGNC:12337 ENSG00000072315 transient receptor potential cation channel subfamily C member 5 TRPC5 """protein phosphatase 1, regulatory subunit 159"", ""transient receptor potential cation channel, subfamily C, member 5""" PPP1R159 Yes No Ensembl:ENSG00000072315, GenAtlas:TRPC5, GeneCard:TRPC5, HGNC:HGNC:12337, HumanCyc Gene:HS01064, IUPHAR Receptor:490, ModBase:Q9UL62, NCBI Gene:7224, OMIM:300334, RefSeq DNA:NG_021215, RefSeq DNA:NT_011651, RefSeq Protein:NP_036603, RefSeq RNA:NM_012471, UCSC Genome Browser:NM_012471, UniProtKB:Q9UL62 No chrX 111017542 111326004 111774314 112082943 +PA166181680 100329135 HGNC:40593 ENSG00000204025 TRPC5 opposite strand TRPC5OS TRPC5-AS1 Yes No Ensembl:ENSG00000204025, HGNC:HGNC:40593, NCBI Gene:100329135 No 0 0 0 0 +PA37011 7225 HGNC:12338 ENSG00000137672 transient receptor potential cation channel subfamily C member 6 TRPC6 transient receptor potential cation channel, subfamily C, member 6 FSGS2, TRP6 Yes No Comparative Toxicogenomics Database:7225, Ensembl:ENSG00000137672, GenAtlas:TRPC6, GeneCard:TRPC6, HGNC:HGNC:12338, HumanCyc Gene:HS06370, IUPHAR Receptor:491, ModBase:Q9Y210, NCBI Gene:7225, OMIM:603652, OMIM:603965, RefSeq DNA:NG_011476, RefSeq DNA:NT_033899, RefSeq Protein:NP_004612, RefSeq RNA:NM_004621, UCSC Genome Browser:NM_004621, UniProtKB:Q9Y210 No chr11 101322295 101454687 101451470 101584018 +PA164742693 57113 HGNC:20754 ENSG00000069018 transient receptor potential cation channel subfamily C member 7 TRPC7 transient receptor potential cation channel, subfamily C, member 7 Yes No Ensembl:ENSG00000069018, GeneCard:TRPC7, HGNC:HGNC:20754, HumanCyc Gene:HS00953, IUPHAR Receptor:492, ModBase:Q9HCX4, NCBI Gene:57113, RefSeq DNA:NT_034772, RefSeq Protein:NP_001161048, RefSeq Protein:NP_001161049, RefSeq Protein:NP_065122, RefSeq RNA:NM_001167576, RefSeq RNA:NM_001167577, RefSeq RNA:NM_020389, UniProtKB:Q70T26, UniProtKB:Q8IWP7, UniProtKB:Q9HCX4 No chr5 135548458 135701164 136213311 136365476 +PA35496 4308 HGNC:7146 ENSG00000134160 transient receptor potential cation channel subfamily M member 1 TRPM1 transient receptor potential cation channel, subfamily M, member 1 CSNB1C, LTRPC1, MLSN1 Yes No Ensembl:ENSG00000134160, GenAtlas:TRPM1, GeneCard:TRPM1, HGNC:HGNC:7146, HumanCyc Gene:HS05825, IUPHAR Receptor:493, ModBase:Q7Z4N2, NCBI Gene:4308, OMIM:603576, OMIM:613216, RefSeq DNA:NG_016453, RefSeq DNA:NT_010194, RefSeq Protein:NP_002411, RefSeq RNA:NM_002420, UCSC Genome Browser:NM_002420, UniProtKB:Q7Z4N2 No chr15 31293264 31453476 31001061 31161273 +PA37012 7226 HGNC:12339 ENSG00000142185 transient receptor potential cation channel subfamily M member 2 TRPM2 transient receptor potential cation channel, subfamily M, member 2 EREG1, KNP3, LTRPC2, NUDT9H, NUDT9L1, TRPC7 Yes No Comparative Toxicogenomics Database:7226, Ensembl:ENSG00000142185, GenAtlas:TRPM2, GeneCard:TRPM2, HGNC:HGNC:12339, HumanCyc Gene:HS06903, IUPHAR Receptor:494, ModBase:O94759, NCBI Gene:7226, OMIM:603749, RefSeq DNA:NG_022913, RefSeq DNA:NT_011515, RefSeq Protein:NP_003298, RefSeq RNA:NM_003307, RefSeq RNA:NR_038257, UCSC Genome Browser:NM_003307, UniProtKB:O94759 No chr21 45770046 45862964 44350112 44443081 +PA38271 80036 HGNC:17992 ENSG00000083067 transient receptor potential cation channel subfamily M member 3 TRPM3 """melastatin 2"", ""transient receptor potential cation channel, subfamily M, member 3""" GON-2, KIAA1616, LTRPC3 Yes No Ensembl:ENSG00000083067, GenAtlas:TRPM3, GeneCard:TRPM3, HGNC:HGNC:17992, HumanCyc Gene:HS07486, HumanCyc Gene:HS12273, IUPHAR Receptor:495, NCBI Gene:80036, OMIM:608961, RefSeq DNA:NT_008470, RefSeq Protein:NP_001007471, RefSeq Protein:NP_001007472, RefSeq Protein:NP_066003, RefSeq Protein:NP_079247, RefSeq Protein:NP_996827, RefSeq Protein:NP_996828, RefSeq Protein:NP_996829, RefSeq Protein:NP_996830, RefSeq Protein:NP_996831, RefSeq RNA:NM_001007470, RefSeq RNA:NM_001007471, RefSeq RNA:NM_020952, RefSeq RNA:NM_024971, RefSeq RNA:NM_206944, RefSeq RNA:NM_206945, RefSeq RNA:NM_206946, RefSeq RNA:NM_206947, RefSeq RNA:NM_206948, UCSC Genome Browser:NM_020952, UniProtKB:A2A3F4, UniProtKB:A9Z1Y7, UniProtKB:Q6NW43, UniProtKB:Q9H200 No chr9 73143979 74061782 70529063 71446989 +PA38272 54795 HGNC:17993 ENSG00000130529 transient receptor potential cation channel subfamily M member 4 TRPM4 transient receptor potential cation channel, subfamily M, member 4 FLJ20041 Yes No Comparative Toxicogenomics Database:54795, Ensembl:ENSG00000130529, GenAtlas:TRPM4, GeneCard:TRPM4, HGNC:HGNC:17993, HumanCyc Gene:HS05399, IUPHAR Receptor:496, ModBase:Q8TD43, NCBI Gene:54795, OMIM:604559, OMIM:606936, RefSeq DNA:NT_011109, RefSeq Protein:NP_001182156, RefSeq Protein:NP_060106, RefSeq RNA:NM_001195227, RefSeq RNA:NM_017636, UCSC Genome Browser:NM_017636, UniProtKB:Q8TD43 No chr19 49661016 49715098 49157741 49211841 +PA37869 29850 HGNC:14323 ENSG00000070985 transient receptor potential cation channel subfamily M member 5 TRPM5 transient receptor potential cation channel, subfamily M, member 5 LTRPC5, MTR1 Yes No Ensembl:ENSG00000070985, GenAtlas:TRPM5, GeneCard:TRPM5, HGNC:HGNC:14323, HumanCyc Gene:HS01021, IUPHAR Receptor:497, ModBase:Q9NZQ8, NCBI Gene:29850, OMIM:604600, RefSeq DNA:NT_009237, RefSeq Protein:NP_055370, RefSeq RNA:NM_014555, UCSC Genome Browser:NM_014555, UniProtKB:Q9NZQ8 No chr11 2425745 2444275 2403962 2423424 +PA38479 140803 HGNC:17995 ENSG00000119121 transient receptor potential cation channel subfamily M member 6 TRPM6 transient receptor potential cation channel, subfamily M, member 6 CHAK2, FLJ22628, HOMG, HSH Yes Yes Comparative Toxicogenomics Database:140803, Ensembl:ENSG00000119121, GenAtlas:TRPM6, GeneCard:TRPM6, HGNC:HGNC:17995, HumanCyc Gene:HS04275, IUPHAR Receptor:498, ModBase:Q9BX84, NCBI Gene:140803, OMIM:602014, OMIM:607009, RefSeq DNA:NG_017036, RefSeq DNA:NT_008470, RefSeq Protein:NP_001170781, RefSeq Protein:NP_001170782, RefSeq Protein:NP_060132, RefSeq RNA:NM_001177310, RefSeq RNA:NM_001177311, RefSeq RNA:NM_017662, UCSC Genome Browser:NM_017662, UniProtKB:Q9BX84 No chr9 77337411 77503010 74722495 74888094 +PA38273 54822 HGNC:17994 ENSG00000092439 transient receptor potential cation channel subfamily M member 7 TRPM7 transient receptor potential cation channel, subfamily M, member 7 CHAK1, LTRPC7, TRP-PLIK Yes No Comparative Toxicogenomics Database:54822, Ensembl:ENSG00000092439, GenAtlas:TRPM7, GeneCard:TRPM7, HGNC:HGNC:17994, HumanCyc Gene:HS01771, IUPHAR Receptor:499, ModBase:Q96QT4, NCBI Gene:54822, OMIM:105500, OMIM:605692, RefSeq DNA:NG_021363, RefSeq DNA:NT_010194, RefSeq Protein:NP_060142, RefSeq RNA:NM_017672, UCSC Genome Browser:NM_017672, UniProtKB:Q96QT4 No chr15 50849351 50979012 50557158 50686835 +PA38270 79054 HGNC:17961 ENSG00000144481 transient receptor potential cation channel subfamily M member 8 TRPM8 transient receptor potential cation channel, subfamily M, member 8 Yes Yes Ensembl:ENSG00000144481, GenAtlas:TRPM8, GeneCard:TRPM8, HGNC:HGNC:17961, HumanCyc Gene:HS07176, IUPHAR Receptor:500, ModBase:Q7Z2W7, NCBI Gene:79054, OMIM:606678, RefSeq DNA:NT_005120, RefSeq Protein:NP_076985, RefSeq RNA:NM_024080, UCSC Genome Browser:NM_024080, UniProtKB:Q3YFM7, UniProtKB:Q7Z2W7 No chr2 234826043 234928166 233917342 234019522 +PA37013 7227 HGNC:12340 ENSG00000104447 transcriptional repressor GATA binding 1 TRPS1 trichorhinophalangeal syndrome I GC79, LGCR Yes No Comparative Toxicogenomics Database:7227, Ensembl:ENSG00000104447, GenAtlas:TRPS1, GeneCard:TRPS1, HGNC:HGNC:12340, HumanCyc Gene:HS02584, ModBase:Q9UHF7, NCBI Gene:7227, OMIM:150230, OMIM:190350, OMIM:190351, OMIM:604386, RefSeq DNA:NG_012383, RefSeq DNA:NT_008046, RefSeq Protein:NP_054831, RefSeq RNA:NM_014112, UCSC Genome Browser:NM_014112, UniProtKB:Q9UHF7 No chr8 116420724 116713299 115408496 115669633 +PA134964265 83707 HGNC:20316 ENSG00000149743 tRNA phosphotransferase 1 TRPT1 tRNA splicing 2' phosphotransferase 1 MGC11134 Yes No Ensembl:ENSG00000149743, GeneCard:TRPT1, HGNC:HGNC:20316, HumanCyc Gene:HS07639, ModBase:Q86TN4, NCBI Gene:83707, OMIM:610470, RefSeq DNA:NT_167190, RefSeq Protein:NP_001028850, RefSeq Protein:NP_001153861, RefSeq Protein:NP_001153862, RefSeq Protein:NP_001153864, RefSeq Protein:NP_001153865, RefSeq Protein:NP_113660, RefSeq RNA:NM_001033678, RefSeq RNA:NM_001160389, RefSeq RNA:NM_001160390, RefSeq RNA:NM_001160392, RefSeq RNA:NM_001160393, RefSeq RNA:NM_031472, UniProtKB:Q86TN4 No chr11 63991271 63993726 64223799 64226254 +PA37329 7442 HGNC:12716 ENSG00000196689 transient receptor potential cation channel subfamily V member 1 TRPV1 transient receptor potential cation channel, subfamily V, member 1 VR1 Yes Yes Comparative Toxicogenomics Database:7442, Ensembl:ENSG00000196689, GenAtlas:TRPV1, GeneCard:TRPV1, HGNC:HGNC:12716, IUPHAR Receptor:507, ModBase:Q8NER1, NCBI Gene:7442, OMIM:602076, RefSeq DNA:NT_010718, RefSeq Protein:NP_061197, RefSeq Protein:NP_542435, RefSeq Protein:NP_542436, RefSeq Protein:NP_542437, RefSeq RNA:NM_018727, RefSeq RNA:NM_080704, RefSeq RNA:NM_080705, RefSeq RNA:NM_080706, UCSC Genome Browser:NM_018727, UniProtKB:Q8NER1 No chr17 3468740 3512705 3565446 3609411 +PA38292 51393 HGNC:18082 ENSG00000187688 transient receptor potential cation channel subfamily V member 2 TRPV2 transient receptor potential cation channel, subfamily V, member 2 VRL, VRL-1, VRL1 Yes No Comparative Toxicogenomics Database:51393, Ensembl:ENSG00000187688, GenAtlas:TRPV2, GeneCard:TRPV2, HGNC:HGNC:18082, IUPHAR Receptor:508, ModBase:Q9Y5S1, NCBI Gene:51393, OMIM:606676, RefSeq DNA:NT_010718, RefSeq Protein:NP_057197, RefSeq RNA:NM_016113, UCSC Genome Browser:NM_016113, UniProtKB:Q9Y5S1 No chr17 16318856 16340317 16415542 16437003 +PA38481 162514 HGNC:18084 ENSG00000167723 transient receptor potential cation channel subfamily V member 3 TRPV3 transient receptor potential cation channel, subfamily V, member 3 VRL3 Yes Yes Ensembl:ENSG00000167723, GenAtlas:TRPV3, GeneCard:TRPV3, HGNC:HGNC:18084, HumanCyc Gene:HS09615, IUPHAR Receptor:509, ModBase:Q8NET8, NCBI Gene:162514, OMIM:607066, RefSeq DNA:NT_010718, RefSeq Protein:NP_659505, RefSeq RNA:NM_145068, UCSC Genome Browser:NM_145068, UniProtKB:Q8NET8 No chr17 3413796 3461289 3510502 3557995 +PA38293 59341 HGNC:18083 ENSG00000111199 transient receptor potential cation channel subfamily V member 4 TRPV4 """osmosensitive transient receptor potential channel 4"", ""transient receptor potential cation channel, subfamily V, member 4""" CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC Yes No Comparative Toxicogenomics Database:59341, Ensembl:ENSG00000111199, GenAtlas:TRPV4, GeneCard:TRPV4, HGNC:HGNC:18083, HumanCyc Gene:HS03377, IUPHAR Receptor:510, ModBase:Q96Q92, NCBI Gene:59341, OMIM:113500, OMIM:156530, OMIM:181405, OMIM:184252, OMIM:605427, OMIM:606071, RefSeq DNA:NG_017090, RefSeq DNA:NT_009775, RefSeq Protein:NP_001170899, RefSeq Protein:NP_001170902, RefSeq Protein:NP_001170904, RefSeq Protein:NP_067638, RefSeq Protein:NP_671737, RefSeq RNA:NM_001177428, RefSeq RNA:NM_001177431, RefSeq RNA:NM_001177433, RefSeq RNA:NM_021625, RefSeq RNA:NM_147204, UCSC Genome Browser:NM_021625, UniProtKB:Q9HBA0 No chr12 110220892 110271212 109783087 109833407 +PA35045 56302 HGNC:3145 ENSG00000127412 transient receptor potential cation channel subfamily V member 5 TRPV5 transient receptor potential cation channel, subfamily V, member 5 CaT2, ECAC1 Yes No Comparative Toxicogenomics Database:56302, Ensembl:ENSG00000127412, GenAtlas:TRPV5, GeneCard:TRPV5, HGNC:HGNC:3145, HumanCyc Gene:HS05094, IUPHAR Receptor:511, ModBase:Q9NQA5, NCBI Gene:56302, OMIM:606679, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_062815, RefSeq RNA:NM_019841, UCSC Genome Browser:NM_019841, UniProtKB:Q9NQA5 No chr7 142605648 142630820 142908101 142933723 +PA37832 55503 HGNC:14006 ENSG00000165125 transient receptor potential cation channel subfamily V member 6 TRPV6 transient receptor potential cation channel, subfamily V, member 6 CaT1, ECAC2 Yes No Comparative Toxicogenomics Database:55503, Ensembl:ENSG00000165125, GenAtlas:TRPV6, GeneCard:TRPV6, HGNC:HGNC:14006, HumanCyc Gene:HS09188, IUPHAR Receptor:512, ModBase:Q9H1D0, NCBI Gene:55503, OMIM:606680, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_061116, RefSeq RNA:NM_018646, UCSC Genome Browser:NM_014274, UniProtKB:Q9H1D0 No chr7 142568956 142583490 142871203 142885745 +PA37020 8295 HGNC:12347 ENSG00000196367 transformation/transcription domain associated protein TRRAP transformation/transcription domain-associated protein PAF400, TR-AP, Tra1 Yes No Comparative Toxicogenomics Database:8295, Ensembl:ENSG00000196367, GenAtlas:TRRAP, GeneCard:TRRAP, HGNC:HGNC:12347, ModBase:Q9Y4A5, NCBI Gene:8295, OMIM:603015, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_003487, RefSeq RNA:NM_003496, UCSC Genome Browser:NM_003496, UniProtKB:Q9Y4A5 No chr7 98476113 98610866 98878490 99013243 +PA38086 142940 HGNC:16060 ENSG00000165832 TruB pseudouridine synthase family member 1 TRUB1 TruB pseudouridine (psi) synthase family member 1, TruB pseudouridine (psi) synthase homolog 1 (E. coli), probable tRNA pseudouridine synthase 1 PUS4 Yes No Comparative Toxicogenomics Database:142940, Ensembl:ENSG00000165832, GenAtlas:TRUB1, GeneCard:TRUB1, HGNC:HGNC:16060, HumanCyc Gene:HS09292, ModBase:Q8WWH5, NCBI Gene:142940, OMIM:610726, RefSeq DNA:NT_030059, RefSeq Protein:NP_631908, RefSeq RNA:NM_139169, UCSC Genome Browser:NM_139169, UniProtKB:Q8WWH5 No chr10 116697952 116737439 114938193 114977680 +PA38209 26995 HGNC:17170 ENSG00000167112 TruB pseudouridine synthase family member 2 TRUB2 TruB pseudouridine (psi) synthase family member 2, TruB pseudouridine (psi) synthase homolog 2 (E. coli) CLONE24922 Yes No Comparative Toxicogenomics Database:26995, Ensembl:ENSG00000167112, GenAtlas:TRUB2, GeneCard:TRUB2, HGNC:HGNC:17170, HumanCyc Gene:HS09513, ModBase:O95900, NCBI Gene:26995, OMIM:610727, RefSeq DNA:NT_008470, RefSeq Protein:NP_056494, RefSeq RNA:NM_015679, UniProtKB:O95900 No chr9 131071396 131084697 128309117 128322418 +PA142672430 128229 HGNC:30636 ENSG00000163467 TSSK6 activating cochaperone TSACC SSTK-interacting protein, TSSK6 activating co-chaperone C1orf182, SIP, SSTK-IP Yes No Ensembl:ENSG00000163467, GeneCard:C1orf182, HGNC:HGNC:30636, HumanCyc Gene:HS15066, NCBI Gene:128229, RefSeq DNA:NT_004487, RefSeq Protein:NP_653228, RefSeq RNA:NM_144627, UniProtKB:Q96A04 No chr1 156307105 156316786 156337314 156346995 +PA25923 10665 HGNC:13922 ENSG00000204296, ENSG00000206245 testis expressed basic protein 1 TSBP1 chromosome 6 open reading frame 10, testis specific basic protein C6orf10, TSBP Yes No Ensembl:ENSG00000204296, Ensembl:ENSG00000206245, GenAtlas:C6orf10, GeneCard:C6orf10, HGNC:HGNC:13922, NCBI Gene:10665, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_006772, RefSeq RNA:NM_006781, UCSC Genome Browser:NM_006781, UniProtKB:Q13647, UniProtKB:Q5SRN2 No chr6 32260475 32339705 32290523 32371912 +PA37034 7248 HGNC:12362 ENSG00000165699 TSC complex subunit 1 TSC1 tuberous sclerosis 1 KIAA0243, LAM, TSC, hamartin Yes Yes Comparative Toxicogenomics Database:7248, Ensembl:ENSG00000165699, GenAtlas:TSC1, GeneCard:TSC1, HGNC:HGNC:12362, HumanCyc Gene:HS09273, ModBase:Q92574, NCBI Gene:7248, OMIM:191100, OMIM:605284, OMIM:606690, OMIM:607341, RefSeq DNA:NG_012386, RefSeq DNA:NT_035014, RefSeq Protein:NP_000359, RefSeq Protein:NP_001008567, RefSeq Protein:NP_001155898, RefSeq Protein:NP_001155899, RefSeq RNA:NM_000368, RefSeq RNA:NM_001008567, RefSeq RNA:NM_001162426, RefSeq RNA:NM_001162427, UCSC Genome Browser:NM_000368, UniProtKB:B7Z897, UniProtKB:Q32NF0, UniProtKB:Q86WV8, UniProtKB:Q92574 No chr9 135766735 135820094 132891348 132945269 +PA37035 7249 HGNC:12363 ENSG00000103197 TSC complex subunit 2 TSC2 """protein phosphatase 1, regulatory subunit 160"", ""tuberous sclerosis 2""" LAM, PPP1R160, TSC4, tuberin Yes No Comparative Toxicogenomics Database:7249, Ensembl:ENSG00000103197, GenAtlas:TSC2, GeneCard:TSC2, HGNC:HGNC:12363, HumanCyc Gene:HS02471, ModBase:P49815, NCBI Gene:7249, OMIM:191092, OMIM:191100, OMIM:606690, RefSeq DNA:NG_005895, RefSeq DNA:NT_010393, RefSeq Protein:NP_000539, RefSeq Protein:NP_001070651, RefSeq Protein:NP_001107854, RefSeq RNA:NM_000548, RefSeq RNA:NM_001077183, RefSeq RNA:NM_001114382, UCSC Genome Browser:NM_000548, UniProtKB:P49815 No chr16 2097472 2138713 2047804 2088720 +PA134887618 8848 HGNC:16826 ENSG00000102804 TSC22 domain family member 1 TSC22D1 TSC22 domain family, member 1 MGC17597, TGFB1I4, TSC22 Yes No Comparative Toxicogenomics Database:8848, Ensembl:ENSG00000102804, GeneCard:TSC22D1, HGNC:HGNC:16826, HumanCyc Gene:HS02414, ModBase:Q15714, NCBI Gene:8848, OMIM:607715, RefSeq DNA:NT_024524, RefSeq Protein:NP_006013, RefSeq Protein:NP_904358, RefSeq RNA:NM_006022, RefSeq RNA:NM_183422, UniProtKB:B3KRL7, UniProtKB:B9EGI0, UniProtKB:Q15714 No chr13 45006279 45150701 44432143 44576565 +PA142670697 9819 HGNC:29095 ENSG00000196428 TSC22 domain family member 2 TSC22D2 TSC22 domain family, member 2 KIAA0669, TILZ4a, TILZ4b, TILZ4c Yes No Ensembl:ENSG00000196428, GeneCard:TSC22D2, HGNC:HGNC:29095, ModBase:O75157, NCBI Gene:9819, RefSeq DNA:NT_005612, RefSeq Protein:NP_055594, RefSeq RNA:NM_014779, UniProtKB:O75157 No chr3 150126101 150177906 150408268 150460119 +PA27504 1831 HGNC:3051 ENSG00000157514 TSC22 domain family member 3 TSC22D3 """TSC22 domain family, member 3"", ""glucocorticoid-induced leucine zipper""" DIP, DSIPI, GILZ, TSC-22R, hDIP Yes No Comparative Toxicogenomics Database:1831, Ensembl:ENSG00000157514, GenAtlas:TSC22D3, GeneCard:TSC22D3, HGNC:HGNC:3051, HumanCyc Gene:HS08217, ModBase:Q99576, NCBI Gene:1831, OMIM:300506, RefSeq DNA:NT_011651, RefSeq Protein:NP_001015881, RefSeq Protein:NP_004080, RefSeq Protein:NP_932174, RefSeq RNA:NM_001015881, RefSeq RNA:NM_004089, RefSeq RNA:NM_198057, UCSC Genome Browser:NM_004089, UniProtKB:Q5JRJ2, UniProtKB:Q99576 No chrX 106956451 107020559 107713221 107777329 +PA142670698 81628 HGNC:21696 ENSG00000166925 TSC22 domain family member 4 TSC22D4 TSC22 domain family, member 4 THG-1, TILZ2 Yes No Comparative Toxicogenomics Database:81628, Ensembl:ENSG00000166925, GeneCard:TSC22D4, HGNC:HGNC:21696, HumanCyc Gene:HS09482, ModBase:Q9Y3Q8, NCBI Gene:81628, OMIM:611914, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_112197, RefSeq RNA:NM_030935, UniProtKB:Q9Y3Q8 No chr7 100064142 100076902 100466519 100479279 +PA162407135 116461 HGNC:16791 ENSG00000198860 tRNA splicing endonuclease subunit 15 TSEN15 TSEN15 tRNA splicing endonuclease subunit, tRNA splicing endonuclease 15 homolog (S. cerevisiae) C1orf19 Yes No Ensembl:ENSG00000198860, GeneCard:TSEN15, HGNC:HGNC:16791, HumanCyc Gene:HS13020, ModBase:Q8WW01, NCBI Gene:116461, OMIM:608756, RefSeq DNA:NT_004487, RefSeq Protein:NP_001120866, RefSeq Protein:NP_443197, RefSeq RNA:NM_001127394, RefSeq RNA:NM_052965, RefSeq RNA:NR_023349, UniProtKB:B1ALV0, UniProtKB:B4DKP0, UniProtKB:Q8WW01 No chr1 184020811 184043346 184050207 184095846 +PA142670695 80746 HGNC:28422 ENSG00000154743 tRNA splicing endonuclease subunit 2 TSEN2 TSEN2 tRNA splicing endonuclease subunit, tRNA splicing endonuclease 2 homolog (S. cerevisiae) MGC2776, SEN2, SEN2L Yes No Comparative Toxicogenomics Database:80746, Ensembl:ENSG00000154743, GeneCard:TSEN2, HGNC:HGNC:28422, HumanCyc Gene:HS08007, ModBase:Q8NCE0, NCBI Gene:80746, OMIM:608753, OMIM:612389, RefSeq DNA:NG_011521, RefSeq DNA:NT_022517, RefSeq Protein:NP_001138864, RefSeq Protein:NP_001138865, RefSeq Protein:NP_001138866, RefSeq Protein:NP_001138867, RefSeq Protein:NP_079541, RefSeq RNA:NM_001145392, RefSeq RNA:NM_001145393, RefSeq RNA:NM_001145394, RefSeq RNA:NM_001145395, RefSeq RNA:NM_025265, UniProtKB:B7Z6K1, UniProtKB:C9IZI7, UniProtKB:Q8NCE0 No chr3 12517748 12580672 12484432 12539624 +PA134871088 79042 HGNC:15506 ENSG00000170892 tRNA splicing endonuclease subunit 34 TSEN34 TSEN34 tRNA splicing endonuclease subunit, tRNA splicing endonuclease 34 homolog (S. cerevisiae) LENG5, SEN34, SEN34L Yes No Comparative Toxicogenomics Database:79042, Ensembl:ENSG00000170892, GeneCard:TSEN34, HGNC:HGNC:15506, HumanCyc Gene:HS10201, ModBase:Q9BSV6, NCBI Gene:79042, OMIM:608754, OMIM:612390, RefSeq DNA:NG_015810, RefSeq DNA:NT_011109, RefSeq Protein:NP_001070914, RefSeq Protein:NP_076980, RefSeq RNA:NM_001077446, RefSeq RNA:NM_024075, UniProtKB:Q9BSV6 No chr19 54694112 54698394 54189517 54194536 +PA142670692 283989 HGNC:27561 ENSG00000182173 tRNA splicing endonuclease subunit 54 TSEN54 TSEN54 tRNA splicing endonuclease subunit, tRNA splicing endonuclease 54 homolog (S. cerevisiae) SEN54, SEN54L Yes No Comparative Toxicogenomics Database:283989, Ensembl:ENSG00000182173, GeneCard:TSEN54, HGNC:HGNC:27561, HumanCyc Gene:HS11953, ModBase:Q7Z6J9, NCBI Gene:283989, OMIM:225753, OMIM:277470, OMIM:608755, RefSeq DNA:NG_013041, RefSeq DNA:NT_010783, RefSeq Protein:NP_997229, RefSeq RNA:NM_207346, UniProtKB:Q7Z6J9 No chr17 73512609 73520821 75516528 75524739 +PA37037 10102 HGNC:12367 ENSG00000123297 Ts translation elongation factor, mitochondrial TSFM EF-TS, EF-Tsmt Yes No Comparative Toxicogenomics Database:10102, Ensembl:ENSG00000123297, GenAtlas:TSFM, GeneCard:TSFM, HGNC:HGNC:12367, HumanCyc Gene:HS04645, ModBase:P43897, NCBI Gene:10102, OMIM:604723, OMIM:610505, RefSeq DNA:NG_016971, RefSeq DNA:NT_029419, RefSeq Protein:NP_001166166, RefSeq Protein:NP_001166167, RefSeq Protein:NP_001166168, RefSeq Protein:NP_005717, RefSeq RNA:NM_001172695, RefSeq RNA:NM_001172696, RefSeq RNA:NM_001172697, RefSeq RNA:NM_005726, UCSC Genome Browser:NM_005726, UniProtKB:B4E391, UniProtKB:P43897 No chr12 58176528 58196639 57782745 57802856 +PA38068 7251 HGNC:15971 ENSG00000074319 tumor susceptibility 101 TSG101 tumor susceptibility gene 101 TSG10, VPS23 Yes No Comparative Toxicogenomics Database:7251, Ensembl:ENSG00000074319, GenAtlas:TSG101, GeneCard:TSG101, HGNC:HGNC:15971, HumanCyc Gene:HS01137, ModBase:Q99816, NCBI Gene:7251, OMIM:601387, RefSeq DNA:NG_012138, RefSeq DNA:NT_009237, RefSeq Protein:NP_006283, RefSeq RNA:NM_006292, UCSC Genome Browser:NM_006292, UniProtKB:Q99816 No chr11 18501858 18548503 18480311 18526956 +PA37933 80705 HGNC:14927 ENSG00000135951 testis specific 10 TSGA10 """cancer/testis antigen 79"", ""testis specific, 10""" CEP4L, CT79 Yes No Ensembl:ENSG00000135951, GenAtlas:TSGA10, GeneCard:TSGA10, HGNC:HGNC:14927, HumanCyc Gene:HS06092, ModBase:Q9BZW7, NCBI Gene:80705, OMIM:607166, RefSeq DNA:NT_022171, RefSeq Protein:NP_079520, RefSeq Protein:NP_878915, RefSeq RNA:NM_025244, RefSeq RNA:NM_182911, UCSC Genome Browser:NM_025244, UniProtKB:Q9BZW7 No chr2 99613724 99771187 98997261 99154962 +PA134983361 254187 HGNC:26555 ENSG00000175513 testis specific 10 interacting protein TSGA10IP testis specific, 10 interacting protein FAM161C, FLJ32880 Yes No Comparative Toxicogenomics Database:254187, Ensembl:ENSG00000175513, GeneCard:TSGA10IP, HGNC:HGNC:26555, HumanCyc Gene:HS16469, NCBI Gene:254187, RefSeq DNA:NT_167190, RefSeq Protein:NP_689975, RefSeq RNA:NM_152762, UniProtKB:Q3SY00 No chr11 65713115 65727434 65945445 65960437 +PA37038 114960 HGNC:12369 ENSG00000213265 testis specific 13 TSGA13 testis specific, 13 Yes No Ensembl:ENSG00000213265, GenAtlas:TSGA13, GeneCard:TSGA13, HGNC:HGNC:12369, HumanCyc Gene:HS14727, ModBase:Q96PP4, NCBI Gene:114960, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_443165, RefSeq RNA:NM_052933, UCSC Genome Browser:NM_052933, UniProtKB:Q96PP4 No chr7 130353486 130372268 130668646 130687432 +PA37041 7252 HGNC:12372 ENSG00000134200 thyroid stimulating hormone subunit beta TSHB """thyroid stimulating hormone beta"", ""thyroid stimulating hormone, beta"", ""thyrotropin subunit beta""" Yes No Comparative Toxicogenomics Database:7252, Ensembl:ENSG00000134200, GenAtlas:TSHB, GeneCard:TSHB, HGNC:HGNC:12372, HumanCyc Gene:HS05831, ModBase:P01222, NCBI Gene:7252, OMIM:188540, OMIM:275100, RefSeq DNA:NG_015891, RefSeq DNA:NT_032977, RefSeq Protein:NP_000540, RefSeq RNA:NM_000549, UCSC Genome Browser:NM_000549, UniProtKB:P01222 No chr1 115572445 115576930 115029824 115035935 +PA37042 7253 HGNC:12373 ENSG00000165409 thyroid stimulating hormone receptor TSHR LGR3 Yes No Comparative Toxicogenomics Database:7253, Ensembl:ENSG00000165409, GenAtlas:TSHR, GeneCard:TSHR, HGNC:HGNC:12373, HumanCyc Gene:HS09226, IUPHAR Receptor:255, ModBase:P16473, NCBI Gene:7253, OMIM:603372, OMIM:603373, OMIM:609152, RefSeq DNA:NG_009206, RefSeq DNA:NT_026437, RefSeq Protein:NP_000360, RefSeq Protein:NP_001018046, RefSeq Protein:NP_001136098, RefSeq RNA:NM_000369, RefSeq RNA:NM_001018036, RefSeq RNA:NM_001142626, UCSC Genome Browser:NM_000369, UniProtKB:A0PJU7, UniProtKB:P16473, UniProtKB:Q8TB90 No chr14 81421333 81612646 80954989 81146302 +PA35599 10194 HGNC:10669 ENSG00000179981 teashirt zinc finger homeobox 1 TSHZ1 NY-CO-33, SDCCAG33, TSH1 Yes No Comparative Toxicogenomics Database:10194, Ensembl:ENSG00000179981, GenAtlas:TSHZ1, GeneCard:TSHZ1, HGNC:HGNC:10669, HumanCyc Gene:HS11437, ModBase:Q6ZSZ6, NCBI Gene:10194, RefSeq DNA:NT_025028, RefSeq Protein:NP_005777, RefSeq RNA:NM_005786, UCSC Genome Browser:NM_005786, UniProtKB:Q6ZSZ6 No chr18 72922710 73001905 75210755 75289950 +PA37589 128553 HGNC:13010 ENSG00000182463 teashirt zinc finger homeobox 2 TSHZ2 C20orf17, OVC10-2, TSH2, ZABC2, ZNF218 Yes Yes Comparative Toxicogenomics Database:128553, Ensembl:ENSG00000182463, GenAtlas:TSHZ2, GeneCard:TSHZ2, HGNC:HGNC:13010, ModBase:Q9NRE2, NCBI Gene:128553, RefSeq DNA:NT_011362, RefSeq Protein:NP_001180350, RefSeq Protein:NP_775756, RefSeq Protein:XP_002343767, RefSeq Protein:XP_002345460, RefSeq Protein:XP_002348089, RefSeq RNA:NM_001193421, RefSeq RNA:NM_173485, RefSeq RNA:XM_002343726, RefSeq RNA:XM_002345419, RefSeq RNA:XM_002348048, UniProtKB:Q9NRE2 No chr20 51588946 52111869 52972309 53495330 +PA134887020 57616 HGNC:30700 ENSG00000121297 teashirt zinc finger homeobox 3 TSHZ3 teashirt 3 KIAA1474, TSH3, ZNF537 Yes No Ensembl:ENSG00000121297, GeneCard:TSHZ3, HGNC:HGNC:30700, HumanCyc Gene:HS04480, ModBase:Q63HK5, NCBI Gene:57616, RefSeq DNA:NT_011109, RefSeq Protein:NP_065907, RefSeq RNA:NM_020856, UniProtKB:Q63HK5 No chr19 31765851 31840190 31274945 31349284 +PA37046 9383 HGNC:12377 ENSG00000270641 TSIX transcript, XIST antisense RNA TSIX XIST antisense RNA (non-protein coding), long intergenic non-protein coding RNA 13 LINC00013, NCRNA00013, XIST-AS1 Yes No Ensembl:ENSG00000270641, GenAtlas:TSIX, GeneCard:TSIX, HGNC:HGNC:12377, NCBI Gene:9383, OMIM:300181, RefSeq DNA:NT_011669, RefSeq RNA:NR_003255 No chrX 73012040 73049066 73792205 73829231 +PA164727339 60385 HGNC:30719 ENSG00000126467 testis specific serine kinase substrate TSKS """protein phosphatase 1, regulatory subunit 161"", ""testis-specific serine kinase substrate""" PPP1R161, TSSKS Yes No Ensembl:ENSG00000126467, GeneCard:TSKS, HGNC:HGNC:30719, HumanCyc Gene:HS05023, NCBI Gene:60385, OMIM:608253, RefSeq DNA:NT_011109, RefSeq Protein:NP_068379, RefSeq RNA:NM_021733, UniProtKB:Q9UJT2 No chr19 50243011 50266587 49739753 49763328 +PA162407150 25987 HGNC:28850 ENSG00000182704 tsukushi, small leucine rich proteoglycan TSKU E2IG4, LRRC54, TSK Yes No Ensembl:ENSG00000182704, GeneCard:TSKU, HGNC:HGNC:28850, ModBase:Q8WUA8, NCBI Gene:25987, OMIM:608015, RefSeq DNA:NT_167190, RefSeq Protein:NP_056331, RefSeq RNA:NM_015516, UniProtKB:B3KRF9, UniProtKB:Q8WUA8 No chr11 76493357 76509198 76782313 76798154 +PA162407159 85480 HGNC:30743 ENSG00000145777 thymic stromal lymphopoietin TSLP Yes No Ensembl:ENSG00000145777, GeneCard:TSLP, HGNC:HGNC:30743, HumanCyc Gene:HS14107, NCBI Gene:85480, OMIM:607003, RefSeq DNA:NT_034772, RefSeq Protein:NP_149024, RefSeq Protein:NP_612561, RefSeq RNA:NM_033035, RefSeq RNA:NM_138551, RefSeq RNA:NR_033425, UniProtKB:Q969D9 No chr5 110405778 110413722 111070080 111078024 +PA37047 7247 HGNC:12379 ENSG00000211460 translin TSN recombination hotspot associated factor BCLF-1, REHF-1, TRSLN Yes No Comparative Toxicogenomics Database:7247, Ensembl:ENSG00000211460, GenAtlas:TSN, GeneCard:TSN, HGNC:HGNC:12379, ModBase:Q15631, NCBI Gene:7247, OMIM:600575, RefSeq DNA:NT_022135, RefSeq Protein:NP_004613, RefSeq RNA:NM_004622, UCSC Genome Browser:NM_004622, UniProtKB:Q15631 No chr2 122513121 122525429 121755545 121767853 +PA142670693 203062 HGNC:26437 ENSG00000171045 t-SNARE domain containing 1 TSNARE1 FLJ31164 Yes No Ensembl:ENSG00000171045, GeneCard:TSNARE1, HGNC:HGNC:26437, HumanCyc Gene:HS15944, ModBase:Q96NA8, NCBI Gene:203062, RefSeq DNA:NT_008046, RefSeq Protein:NP_659440, RefSeq RNA:NM_145003, UniProtKB:Q96NA8 No chr8 143293441 143484543 142212080 142403291 +PA37048 7257 HGNC:12380 ENSG00000116918 translin associated factor X TSNAX translin-associated factor X C3PO, TRAX Yes No Comparative Toxicogenomics Database:7257, Ensembl:ENSG00000116918, GenAtlas:TSNAX, GeneCard:TSNAX, HGNC:HGNC:12380, HumanCyc Gene:HS04069, ModBase:Q99598, NCBI Gene:7257, OMIM:602964, RefSeq DNA:NT_167186, RefSeq Protein:NP_005990, RefSeq RNA:NM_005999, UCSC Genome Browser:NM_005999, UniProtKB:B1APC6, UniProtKB:Q99598 No chr1 231664399 231702270 231528653 231566524 +PA134961990 55815 HGNC:18586 ENSG00000102904 translin associated factor X interacting protein 1 TSNAXIP1 translin-associated factor X interacting protein 1 TXI1 Yes No Ensembl:ENSG00000102904, GeneCard:TSNAXIP1, HGNC:HGNC:18586, HumanCyc Gene:HS12500, ModBase:Q2TAA8, NCBI Gene:55815, OMIM:607720, RefSeq DNA:NT_010498, RefSeq Protein:NP_060900, RefSeq RNA:NM_018430, UniProtKB:Q2TAA8 No chr16 67840829 67861971 67806573 67828068 +PA134938100 10103 HGNC:20657 ENSG00000117472 tetraspanin 1 TSPAN1 NET-1, TSPAN-1 Yes No Comparative Toxicogenomics Database:10103, Ensembl:ENSG00000117472, GeneCard:TSPAN1, HGNC:HGNC:20657, HumanCyc Gene:HS04136, ModBase:O60635, NCBI Gene:10103, OMIM:613170, RefSeq DNA:NT_032977, RefSeq Protein:NP_005718, RefSeq RNA:NM_005727, UniProtKB:O60635 No chr1 46640749 46651634 46175077 46196489 +PA142670686 83882 HGNC:29942 ENSG00000182612 tetraspanin 10 TSPAN10 oculospanin OCSP Yes No Ensembl:ENSG00000182612, GeneCard:TSPAN10, HGNC:HGNC:29942, ModBase:Q9H1Z9, NCBI Gene:83882, RefSeq DNA:NT_010783, RefSeq Protein:NP_114151, RefSeq RNA:NM_031945, UniProtKB:Q9H1Z9 No chr17 79609349 79615779 81637171 81648755 +PA142670687 441631 HGNC:30795 ENSG00000110900 tetraspanin 11 TSPAN11 Yes No Ensembl:ENSG00000110900, GeneCard:TSPAN11, HGNC:HGNC:30795, NCBI Gene:441631, RefSeq DNA:NT_009714, RefSeq Protein:NP_001073978, RefSeq RNA:NM_001080509, UniProtKB:A1L157 No chr12 31079536 31149537 30926433 31016502 +PA134954047 23554 HGNC:21641 ENSG00000106025 tetraspanin 12 TSPAN12 NET-2, TM4SF12 Yes No Comparative Toxicogenomics Database:23554, Ensembl:ENSG00000106025, GeneCard:TSPAN12, HGNC:HGNC:21641, HumanCyc Gene:HS02850, NCBI Gene:23554, OMIM:613138, OMIM:613310, RefSeq DNA:NG_023203, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_036470, RefSeq RNA:NM_012338, UniProtKB:O95859 No chr7 120427374 120498420 120787320 120858369 +PA134868624 27075 HGNC:21643 ENSG00000106537 tetraspanin 13 TSPAN13 NET-6, TM4SF13 Yes No Comparative Toxicogenomics Database:27075, Ensembl:ENSG00000106537, GeneCard:TSPAN13, HGNC:HGNC:21643, HumanCyc Gene:HS02919, NCBI Gene:27075, OMIM:613139, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_055214, RefSeq RNA:NM_014399, UniProtKB:O95857, UniProtKB:Q6FGK0 No chr7 16793351 16824161 16753726 16784536 +PA128394731 81619 HGNC:23303 ENSG00000108219 tetraspanin 14 TSPAN14 DC-TM4F2, MGC11352, TM4SF14 Yes No Ensembl:ENSG00000108219, GeneCard:TSPAN14, HGNC:HGNC:23303, HumanCyc Gene:HS03071, NCBI Gene:81619, RefSeq DNA:NT_030059, RefSeq Protein:NP_001121781, RefSeq Protein:NP_112189, RefSeq RNA:NM_001128309, RefSeq RNA:NM_030927, UCSC Genome Browser:NM_030927, UniProtKB:B4DHY6, UniProtKB:Q8NG11 No chr10 82214038 82282394 80454271 80522635 +PA128394634 23555 HGNC:23298 ENSG00000099282 tetraspanin 15 TSPAN15 NET-7, TM4SF15 Yes No Ensembl:ENSG00000099282, GeneCard:TSPAN15, HGNC:HGNC:23298, HumanCyc Gene:HS01885, NCBI Gene:23555, OMIM:613140, RefSeq DNA:NT_030059, RefSeq Protein:NP_036471, RefSeq RNA:NM_012339, UCSC Genome Browser:NM_012339, UniProtKB:O95858 No chr10 71176821 71271569 69451464 69549508 +PA134989909 26526 HGNC:30725 ENSG00000130167 tetraspanin 16 TSPAN16 TM-8, TM4-B, TM4SF16 Yes Yes Ensembl:ENSG00000130167, GeneCard:TSPAN16, HGNC:HGNC:30725, HumanCyc Gene:HS05345, ModBase:Q9UKR8, NCBI Gene:26526, RefSeq DNA:NT_011295, RefSeq Protein:NP_036598, RefSeq RNA:NM_012466, UniProtKB:Q9UKR8 No chr19 11406798 11437672 11296139 11326996 +PA128394740 26262 HGNC:13594 ENSG00000048140 tetraspanin 17 TSPAN17 FBX23, FBXO23, TM4SF17 Yes No Comparative Toxicogenomics Database:26262, Ensembl:ENSG00000048140, GenAtlas:TSPAN17, GeneCard:TSPAN17, HGNC:HGNC:13594, HumanCyc Gene:HS00599, NCBI Gene:26262, RefSeq DNA:NT_023133, RefSeq Protein:NP_001006617, RefSeq Protein:NP_036303, RefSeq Protein:NP_569732, RefSeq RNA:NM_001006616, RefSeq RNA:NM_012171, RefSeq RNA:NM_130465, UniProtKB:Q96FV3 No chr5 176074388 176086059 176647387 176659058 +PA142670688 90139 HGNC:20660 ENSG00000157570 tetraspanin 18 TSPAN18 TSPAN Yes No Ensembl:ENSG00000157570, GeneCard:TSPAN18, HGNC:HGNC:20660, HumanCyc Gene:HS08225, NCBI Gene:90139, RefSeq DNA:NT_009237, RefSeq Protein:NP_001026900, RefSeq Protein:NP_570139, RefSeq RNA:NM_001031730, RefSeq RNA:NM_130783, UniProtKB:Q96SJ8 No chr11 44748731 44953978 44727148 44932427 +PA142670689 144448 HGNC:31886 ENSG00000231738 tetraspanin 19 TSPAN19 Yes No Ensembl:ENSG00000231738, GeneCard:TSPAN19, HGNC:HGNC:31886, NCBI Gene:144448, RefSeq DNA:NT_029419, RefSeq Protein:NP_001094387, RefSeq RNA:NM_001100917, UniProtKB:P0C672 No chr12 85408090 85430055 85014311 85036277 +PA134938787 10100 HGNC:20659 ENSG00000134198 tetraspanin 2 TSPAN2 FLJ12082, TSN2, TSPAN-2 Yes No Comparative Toxicogenomics Database:10100, Ensembl:ENSG00000134198, GeneCard:TSPAN2, HGNC:HGNC:20659, HumanCyc Gene:HS05830, ModBase:O60636, NCBI Gene:10100, OMIM:613133, RefSeq DNA:NT_032977, RefSeq Protein:NP_005716, RefSeq RNA:NM_005725, UniProtKB:O60636 No chr1 115590632 115632121 115048011 115089501 +PA134913500 10099 HGNC:17752 ENSG00000140391 tetraspanin 3 TSPAN3 TM4-A, TM4SF8, TSPAN-3 Yes No Comparative Toxicogenomics Database:10099, Ensembl:ENSG00000140391, GeneCard:TSPAN3, HGNC:HGNC:17752, HumanCyc Gene:HS06710, ModBase:O60637, NCBI Gene:10099, OMIM:613134, RefSeq DNA:NT_010194, RefSeq Protein:NP_001161884, RefSeq Protein:NP_005715, RefSeq Protein:NP_944492, RefSeq RNA:NM_001168412, RefSeq RNA:NM_005724, RefSeq RNA:NM_198902, UniProtKB:A6NEH4, UniProtKB:B4DP19, UniProtKB:O60637 No chr15 77336359 77363570 77044017 77071228 +PA34949 6302 HGNC:10539 ENSG00000135452 tetraspanin 31 TSPAN31 SAS Yes No Comparative Toxicogenomics Database:6302, Ensembl:ENSG00000135452, GenAtlas:TSPAN31, GeneCard:TSPAN31, HGNC:HGNC:10539, HumanCyc Gene:HS06010, ModBase:Q12999, NCBI Gene:6302, OMIM:181035, RefSeq DNA:NT_029419, RefSeq Protein:NP_005972, RefSeq RNA:NM_005981, UCSC Genome Browser:NM_005981, UniProtKB:Q12999, UniProtKB:Q53X76 No chr12 58138784 58142026 57744090 57748243 +PA33257 10077 HGNC:13410 ENSG00000064201 tetraspanin 32 TSPAN32 PHEMX, TSSC6 Yes No Ensembl:ENSG00000064201, GenAtlas:TSPAN32, GeneCard:TSPAN32, HGNC:HGNC:13410, HumanCyc Gene:HS00795, ModBase:Q96QS1, NCBI Gene:10077, OMIM:603853, RefSeq DNA:NT_009237, RefSeq Protein:NP_620591, RefSeq RNA:NM_139022, UCSC Genome Browser:NM_005705, UniProtKB:Q96QS1 No chr11 2323195 2339430 2299480 2318201 +PA142670690 340348 HGNC:28743 ENSG00000158457 tetraspanin 33 TSPAN33 MGC50844, Penumbra Yes No Comparative Toxicogenomics Database:340348, Ensembl:ENSG00000158457, GeneCard:TSPAN33, HGNC:HGNC:28743, NCBI Gene:340348, OMIM:610120, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_848657, RefSeq RNA:NM_178562, UniProtKB:Q86UF1 No chr7 128784712 128809534 129144716 129169694 +PA36560 7106 HGNC:11859 ENSG00000214063 tetraspanin 4 TSPAN4 NAG-2, TETRASPAN, TM4SF7, TSPAN-4 Yes No Comparative Toxicogenomics Database:7106, Ensembl:ENSG00000214063, GenAtlas:TSPAN4, GeneCard:TSPAN4, HGNC:HGNC:11859, NCBI Gene:7106, OMIM:602644, RefSeq DNA:NT_009237, RefSeq Protein:NP_001020405, RefSeq Protein:NP_001020406, RefSeq Protein:NP_001020407, RefSeq Protein:NP_001020408, RefSeq Protein:NP_001020409, RefSeq Protein:NP_001020410, RefSeq Protein:NP_003262, RefSeq RNA:NM_001025234, RefSeq RNA:NM_001025235, RefSeq RNA:NM_001025236, RefSeq RNA:NM_001025237, RefSeq RNA:NM_001025238, RefSeq RNA:NM_001025239, RefSeq RNA:NM_003271, UCSC Genome Browser:NM_003271, UniProtKB:A8MVV6, UniProtKB:O14817 No chr11 842824 867116 842824 867116 +PA134864098 10098 HGNC:17753 ENSG00000168785 tetraspanin 5 TSPAN5 NET-4, TM4SF9, Tspan-5 Yes Yes Comparative Toxicogenomics Database:10098, Ensembl:ENSG00000168785, GeneCard:TSPAN5, HGNC:HGNC:17753, HumanCyc Gene:HS09823, NCBI Gene:10098, OMIM:613136, RefSeq DNA:NT_016354, RefSeq Protein:NP_005714, RefSeq RNA:NM_005723, UniProtKB:P62079 No chr4 99391518 99579812 98470367 98658661 +PA36559 7105 HGNC:11858 ENSG00000000003 tetraspanin 6 TSPAN6 T245, TM4SF6, TSPAN-6 Yes No Comparative Toxicogenomics Database:7105, Ensembl:ENSG00000000003, GenAtlas:TSPAN6, GeneCard:TSPAN6, HGNC:HGNC:11858, HumanCyc Gene:HS00063, NCBI Gene:7105, OMIM:300191, RefSeq DNA:NG_012534, RefSeq DNA:NT_011651, RefSeq Protein:NP_003261, RefSeq RNA:NM_003270, UCSC Genome Browser:NM_003270, UniProtKB:O43657 No chrX 99882105 99892101 100627108 100637104 +PA36555 7102 HGNC:11854 ENSG00000156298 tetraspanin 7 TSPAN7 A15, CD231, DXS1692E, MRX58, MXS1, TALLA-1, TM4SF2 Yes No Comparative Toxicogenomics Database:7102, Ensembl:ENSG00000156298, GenAtlas:TSPAN7, GeneCard:TSPAN7, HGNC:HGNC:11854, HumanCyc Gene:HS08116, ModBase:P41732, NCBI Gene:7102, OMIM:300096, OMIM:300210, RefSeq DNA:NG_009160, RefSeq DNA:NT_079573, RefSeq Protein:NP_004606, RefSeq RNA:NM_004615, UCSC Genome Browser:NM_004615, UniProtKB:P41732 No chrX 38420731 38548172 38561478 38688918 +PA36556 7103 HGNC:11855 ENSG00000127324 tetraspanin 8 TSPAN8 CO-029, TM4SF3 Yes No Comparative Toxicogenomics Database:7103, Ensembl:ENSG00000127324, GenAtlas:TSPAN8, GeneCard:TSPAN8, HGNC:HGNC:11855, HumanCyc Gene:HS05083, NCBI Gene:7103, OMIM:600769, RefSeq DNA:NT_029419, RefSeq Protein:NP_004607, RefSeq RNA:NM_004616, UCSC Genome Browser:NM_004616, UniProtKB:P19075 No chr12 71518877 71551779 71125093 71157999 +PA142670694 10867 HGNC:21640 ENSG00000011105 tetraspanin 9 TSPAN9 NET-5 Yes No Comparative Toxicogenomics Database:10867, Ensembl:ENSG00000011105, GeneCard:TSPAN9, HGNC:HGNC:21640, HumanCyc Gene:HS00302, ModBase:O75954, NCBI Gene:10867, OMIM:613137, RefSeq DNA:NT_009759, RefSeq Protein:NP_001161792, RefSeq Protein:NP_006666, RefSeq RNA:NM_001168320, RefSeq RNA:NM_006675, UniProtKB:O75954 No chr12 3186521 3395730 3077355 3286564 +PA25824 54084 HGNC:1268 ENSG00000175894 thrombospondin type laminin G domain and EAR repeats TSPEAR thrombospondin-type laminin G domain and EAR repeats C21orf29, DFNB98, MGC11251, TSP-EAR Yes Yes Ensembl:ENSG00000175894, GenAtlas:C21orf29, GeneCard:C21orf29, HGNC:HGNC:1268, HumanCyc Gene:HS10983, ModBase:Q8WU66, NCBI Gene:54084, OMIM:612920, RefSeq DNA:NT_011515, RefSeq Protein:NP_659428, RefSeq RNA:NM_144991, UCSC Genome Browser:NM_144991, UniProtKB:Q8WU66 No chr21 45917775 46131495 44497892 44711580 +PA25473 706 HGNC:1158 ENSG00000100300 translocator protein TSPO peripheral-type benzodiazepine receptor/recognition site, translocator protein (18kDa) BZRP, DBI, IBP, MBR, PBR, PKBS, TSPO1, mDRC, pk18 Yes No Comparative Toxicogenomics Database:706, Ensembl:ENSG00000100300, GenAtlas:TSPO, GeneCard:TSPO, HGNC:HGNC:1158, HumanCyc Gene:HS02033, NCBI Gene:706, OMIM:109610, RefSeq DNA:NT_011520, RefSeq Protein:NP_000705, RefSeq Protein:NP_009295, RefSeq RNA:NM_000714, RefSeq RNA:NM_007311, UCSC Genome Browser:NM_000714, UniProtKB:B1AH88, UniProtKB:P30536 No chr22 43547520 43559248 43151514 43163242 +PA165618396 222642 HGNC:21256 ENSG00000112212 translocator protein 2 TSPO2 similar to RIKEN cDNA 2510027D20 BZRPL1, dJ34B21.2 Yes No Comparative Toxicogenomics Database:222642, Ensembl:ENSG00000112212, GeneCard:TSPO2, HGNC:HGNC:21256, ModBase:Q5TGU0, NCBI Gene:222642, RefSeq DNA:NT_007592, RefSeq Protein:NP_001010873, RefSeq Protein:NP_001153198, RefSeq RNA:NM_001010873, RefSeq RNA:NM_001159726, UniProtKB:Q5TGU0 No chr6 41010237 41012076 41041344 41044337 +PA128394545 9256 HGNC:16831 ENSG00000005379 TSPO associated protein 1 TSPOAP1 benzodiazapine receptor (peripheral) associated protein 1, benzodiazepine receptor (peripheral) associated protein 1 BZRAP1, KIAA0612, PRAX-1, RIM-BP1, RIMBP1 Yes No Comparative Toxicogenomics Database:9256, Ensembl:ENSG00000005379, GeneCard:BZRAP1, HGNC:HGNC:16831, HumanCyc Gene:HS00139, ModBase:O95153, NCBI Gene:9256, OMIM:610764, RefSeq DNA:NT_010783, RefSeq Protein:NP_004749, RefSeq Protein:NP_077729, RefSeq RNA:NM_004758, RefSeq RNA:NM_024418, UCSC Genome Browser:NM_004758, UniProtKB:A7E2C5, UniProtKB:O95153 No chr17 56378588 56406152 58301227 58329030 +PA37049 7258 HGNC:12381 ENSG00000258992 testis specific protein Y-linked 1 TSPY1 """cancer/testis antigen 78"", ""testis specific protein, Y-linked 1""" CT78, TSPY Yes No Ensembl:ENSG00000258992, GenAtlas:TSPY1, GeneCard:TSPY1, HGNC:HGNC:12381, HumanCyc Gene:HS08174, HumanCyc Gene:HS09806, HumanCyc Gene:HS09815, ModBase:Q01534, NCBI Gene:7258, OMIM:480100, RefSeq DNA:NT_011878, RefSeq Protein:NP_001184171, RefSeq Protein:NP_003299, RefSeq RNA:NM_001197242, RefSeq RNA:NM_003308, UCSC Genome Browser:NM_003308, UniProtKB:A4FUW6 No chrY 9304564 9307359 9466955 9469756 +PA165791579 100289087 HGNC:37473 ENSG00000228927, ENSG00000236424 testis specific protein Y-linked 10 TSPY10 testis specific protein, Y-linked 10 Yes No Ensembl:ENSG00000228927, Ensembl:ENSG00000236424, GeneCard:TSPY10, HGNC:HGNC:37473, NCBI Gene:100289087, RefSeq DNA:NT_011878, RefSeq Protein:XP_002344239, RefSeq Protein:XP_003403544, RefSeq RNA:XM_002344198, RefSeq RNA:XM_003403496, UniProtKB:Q01534 No chrY 9365495 9368285 9527880 9530676 +PA134889717 347584 HGNC:23903 ENSG00000238235 testis specific protein, Y-linked 11, pseudogene TSPY11P Yes No Ensembl:ENSG00000238235, HGNC:HGNC:23903, NCBI Gene:347584, RefSeq DNA:NG_003077, RefSeq DNA:NT_011896 No chrY 6134588 6137316 6266547 6269275 +PA134944217 377997 HGNC:23904 ENSG00000236435 testis specific protein, Y-linked 12, pseudogene TSPY12P Yes No Ensembl:ENSG00000236435, HGNC:HGNC:23904, NCBI Gene:377997, RefSeq DNA:NG_003078, RefSeq DNA:NT_011896 No chrY 7554842 7557634 7686801 7689593 +PA134880668 378001 HGNC:23905 ENSG00000187657 testis specific protein, Y-linked 13, pseudogene TSPY13P Yes No Ensembl:ENSG00000187657, HGNC:HGNC:23905, NCBI Gene:378001, RefSeq DNA:NG_003079, RefSeq DNA:NT_011878 No chrY 9743066 9745794 9905457 9908185 +PA134931896 378013 HGNC:23906 ENSG00000169849 testis specific protein, Y-linked 14, pseudogene TSPY14P Yes No Ensembl:ENSG00000169849, HGNC:HGNC:23906, NCBI Gene:378013, RefSeq DNA:NG_004832, RefSeq DNA:NT_011875 No chrY 23630015 23632825 21468129 21470939 +PA134958857 64591 HGNC:23924 ENSG00000168757 testis specific protein Y-linked 2 TSPY2 testis specific protein, Y-linked 2 TSPYQ1 Yes No Ensembl:ENSG00000168757, GeneCard:TSPY2, HGNC:HGNC:23924, ModBase:A6NKD2, NCBI Gene:64591, RefSeq DNA:NT_011896, RefSeq Protein:NP_072095, RefSeq RNA:NM_022573, UniProtKB:A6NKD2 No chrY 6114264 6117055 6246223 6249020 +PA165791606 100874287 HGNC:38725 ENSG00000215601 testis specific protein, Y-linked 24, pseudogene TSPY24P Yes No Ensembl:ENSG00000215601, HGNC:HGNC:38725, NCBI Gene:100874287 No chrY 8148239 8150250 8280198 8282209 +PA165791607 100874288 HGNC:38726 ENSG00000234110 testis specific protein, Y-linked 25, pseudogene TSPY25P Yes No Ensembl:ENSG00000234110, HGNC:HGNC:38726, NCBI Gene:100874288 No chrY 9461792 9463961 9624183 9626352 +PA38099 128854 HGNC:16256 ENSG00000235217 testis specific protein, Y-linked 26, pseudogene TSPY26P bA392M18.1 Yes No Ensembl:ENSG00000235217, GenAtlas:TSPYL3, GeneCard:TSPY26P, HGNC:HGNC:16256, ModBase:Q9H489, NCBI Gene:128854, RefSeq DNA:NT_011362, RefSeq RNA:NR_002781, UCSC Genome Browser:NM_178465 No chr20 30776949 30778163 32189146 32190360 +PA164727366 728137 HGNC:33876 ENSG00000228927 testis specific protein Y-linked 3 TSPY3 testis specific protein, Y-linked 3 CT78 Yes No Ensembl:ENSG00000228927, GeneCard:TSPY3, HGNC:HGNC:33876, NCBI Gene:728137, RefSeq DNA:NT_086998, RefSeq Protein:NP_001071165, RefSeq RNA:NM_001077697, UniProtKB:Q6B019 No chrY 9236030 9238827 9398421 9401224 +PA165791608 728395 HGNC:37287 ENSG00000233803 testis specific protein Y-linked 4 TSPY4 testis specific protein, Y-linked 4 Yes No Ensembl:ENSG00000233803, GeneCard:TSPY4, HGNC:HGNC:37287, NCBI Gene:728395, RefSeq DNA:NT_086998, RefSeq Protein:NP_001157943, RefSeq Protein:XP_001126990, RefSeq RNA:NM_001164471, RefSeq RNA:XM_001126990 No chrY 9175098 9177888 9337489 9340285 +PA134882430 379027 HGNC:23907 ENSG00000225685 testis specific protein, Y-linked 5, pseudogene TSPY5P Yes No Ensembl:ENSG00000225685, HGNC:HGNC:23907, NCBI Gene:379027, RefSeq DNA:NG_003093, RefSeq DNA:NT_011878 No chrY 9904002 9906805 10066393 10069196 +PA165791643 728403 HGNC:37471 ENSG00000229549 testis specific protein Y-linked 8 TSPY8 testis specific protein, Y-linked 8 Yes No Ensembl:ENSG00000229549, GeneCard:TSPY8, HGNC:HGNC:37471, NCBI Gene:728403, RefSeq DNA:NT_086998, RefSeq Protein:XP_001127004, RefSeq Protein:XP_003119118, RefSeq RNA:XM_001127004, RefSeq RNA:XM_003119070, UniProtKB:D3YTF7 No chrY 9195442 9198203 9357829 9360600 +PA166352241 728132 HGNC:37472 testis specific protein Y-linked 9 TSPY9 TSPY9P Yes No HGNC:HGNC:37472, NCBI Gene:728132 No 0 0 0 0 +PA37050 7259 HGNC:12382 ENSG00000189241 TSPY like 1 TSPYL1 TSPY-like 1 TSPYL Yes Yes Comparative Toxicogenomics Database:7259, Ensembl:ENSG00000189241, GenAtlas:TSPYL1, GeneCard:TSPYL1, HGNC:HGNC:12382, ModBase:Q9H0U9, NCBI Gene:7259, OMIM:604714, OMIM:608800, RefSeq DNA:NG_016217, RefSeq DNA:NT_025741, RefSeq Protein:NP_003300, RefSeq RNA:NM_003309, UniProtKB:Q9H0U9 No chr6 116596022 116601280 116274859 116280117 +PA134930188 64061 HGNC:24358 ENSG00000184205 TSPY like 2 TSPYL2 TSPY-like 2 CDA1, CINAP, CTCL, DENTT, HRIHFB2216, SE20-4, TSPX Yes No Comparative Toxicogenomics Database:64061, Ensembl:ENSG00000184205, GeneCard:TSPYL2, HGNC:HGNC:24358, ModBase:Q9H2G4, NCBI Gene:64061, OMIM:300564, RefSeq DNA:NG_013267, RefSeq DNA:NT_011630, RefSeq Protein:NP_071400, RefSeq RNA:NM_022117, UniProtKB:Q9H2G4 No chrX 53111542 53117728 53082327 53088546 +PA134942080 23270 HGNC:21559 ENSG00000187189 TSPY like 4 TSPYL4 TSPY-like 4 KIAA0721, dJ486I3.2 Yes No Comparative Toxicogenomics Database:23270, Ensembl:ENSG00000187189, GeneCard:TSPYL4, HGNC:HGNC:21559, ModBase:Q9UJ04, NCBI Gene:23270, RefSeq DNA:NT_025741, RefSeq Protein:NP_067680, RefSeq RNA:NM_021648, UniProtKB:Q9UJ04 No chr6 116571127 116575261 116249964 116254098 +PA128394738 85453 HGNC:29367 ENSG00000180543 TSPY like 5 TSPYL5 TSPY-like 5, Testis-specific Y-encoded-like protein 5 KIAA1750 Yes No Ensembl:ENSG00000180543, GeneCard:TSPYL5, HGNC:HGNC:29367, ModBase:Q86VY4, NCBI Gene:85453, RefSeq DNA:NT_008046, RefSeq Protein:NP_277047, RefSeq RNA:NM_033512, UCSC Genome Browser:NM_033512, UniProtKB:Q86VY4 No chr8 98285714 98290192 97273486 97277948 +PA134953500 388951 HGNC:14521 ENSG00000178021 TSPY like 6 TSPYL6 TSPY-like 6 Yes No Ensembl:ENSG00000178021, GeneCard:TSPYL6, HGNC:HGNC:14521, ModBase:Q8N831, NCBI Gene:388951, RefSeq DNA:NT_022184, RefSeq Protein:NP_001003937, RefSeq RNA:NM_001003937, UniProtKB:Q8N831 No chr2 54480315 54483409 54253178 54256272 +PA142670691 55720 HGNC:25542 ENSG00000167721 TSR1 ribosome maturation factor TSR1 """TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)"", ""TSR1, ribosome maturation factor""" FLJ10534 Yes No Comparative Toxicogenomics Database:55720, Ensembl:ENSG00000167721, GeneCard:TSR1, HGNC:HGNC:25542, HumanCyc Gene:HS15593, ModBase:Q2NL82, NCBI Gene:55720, OMIM:611214, RefSeq DNA:NT_010718, RefSeq Protein:NP_060598, RefSeq RNA:NM_018128, UniProtKB:Q2NL82 No chr17 2225972 2240678 2322678 2337384 +PA145147877 90121 HGNC:25455 ENSG00000158526 TSR2 ribosome maturation factor TSR2 """TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)"", ""TSR2, ribosome maturation factor"", ""WGG motif containing 1"", ""escortin""" DT1P1A10, RP1-112K5.2, WGG1 Yes No Ensembl:ENSG00000158526, GeneCard:TSR2, HGNC:HGNC:25455, HumanCyc Gene:HS14719, NCBI Gene:90121, RefSeq DNA:NT_011630, RefSeq Protein:NP_477511, RefSeq RNA:NM_058163, UniProtKB:Q969E8 No chrX 54466853 54471730 54440420 54445297 +PA25558 115939 HGNC:14175 ENSG00000007520 TSR3 ribosome maturation factor TSR3 """TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)"", ""TSR3, acp transferase ribosome maturation factor""" C16orf42, MGC24381 Yes No Ensembl:ENSG00000007520, GenAtlas:C16orf42, GeneCard:C16orf42, HGNC:HGNC:14175, NCBI Gene:115939, RefSeq DNA:NT_010393, RefSeq Protein:NP_001001410, RefSeq RNA:NM_001001410, UniProtKB:Q9UJK0 No chr16 1399241 1401873 1349240 1351872 +PA37052 650368 HGNC:12384 ENSG00000223756 tumor suppressing subtransferable candidate 2 pseudogene TSSC2 """asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"", ""tumor-supressing STF cDNA 2""" Yes No Ensembl:ENSG00000223756, GenAtlas:TSSC2, GeneCard:TSSC2, HGNC:HGNC:12384, NCBI Gene:650368, OMIM:608999 No chr11 3402191 3430378 3380961 3409148 +PA37054 10078 HGNC:12386 ENSG00000184281 tumor suppressing subtransferable candidate 4 TSSC4 Yes No Comparative Toxicogenomics Database:10078, Ensembl:ENSG00000184281, GenAtlas:TSSC4, GeneCard:TSSC4, HGNC:HGNC:12386, NCBI Gene:10078, OMIM:603852, RefSeq DNA:NT_009237, RefSeq Protein:NP_005697, RefSeq RNA:NM_005706, UCSC Genome Browser:NM_005706, UniProtKB:Q9Y5U2 No chr11 2421723 2425108 2400409 2403878 +PA36207 23752 HGNC:11400 ENSG00000231086 testis-specific serine kinase 1A pseudogene TSSK1A SPOGA1, TSSK1 Yes No Ensembl:ENSG00000231086, GenAtlas:TSSK7P, GeneCard:TSSK1A, HGNC:HGNC:11400, NCBI Gene:23752, RefSeq DNA:NG_004670, RefSeq DNA:NT_011519 No chr22 19112431 19113380 19124874 19125887 +PA37944 83942 HGNC:14968 ENSG00000212122 testis specific serine kinase 1B TSSK1B testis-specific serine kinase 1B FKSG81, SPOGA4, STK22D, TSSK1 Yes No Ensembl:ENSG00000212122, GenAtlas:TSSK1, GeneCard:TSSK1, GeneCard:TSSK1B, HGNC:HGNC:14968, HumanCyc Gene:HS09040, NCBI Gene:83942, OMIM:610709, RefSeq DNA:NT_034772, RefSeq Protein:NP_114417, RefSeq RNA:NM_032028, UCSC Genome Browser:NM_032028, UniProtKB:A0ZT98, UniProtKB:Q9BXA7 No chr5 112768251 112770728 113432554 113435031 +PA36208 23617 HGNC:11401 ENSG00000206203 testis specific serine kinase 2 TSSK2 testis-specific serine kinase 2 FLJ38613, SPOGA2, STK22B Yes No Ensembl:ENSG00000206203, GenAtlas:TSSK2, GeneCard:TSSK2, HGNC:HGNC:11401, HumanCyc Gene:HS11937, ModBase:Q96PF2, NCBI Gene:23617, OMIM:610710, RefSeq DNA:NT_011519, RefSeq Protein:NP_443732, RefSeq RNA:NM_053006, UCSC Genome Browser:NM_053006, UniProtKB:A0ZT99, UniProtKB:Q96PF2 No chr22 19118321 19120136 19130808 19132623 +PA37964 81629 HGNC:15473 ENSG00000162526 testis specific serine kinase 3 TSSK3 testis-specific serine kinase 3 SPOGA3, STK22C Yes No Ensembl:ENSG00000162526, GenAtlas:TSSK3, GeneCard:TSSK3, HGNC:HGNC:15473, HumanCyc Gene:HS08690, ModBase:Q96PN8, NCBI Gene:81629, OMIM:607660, RefSeq DNA:NT_032977, RefSeq Protein:NP_443073, RefSeq RNA:NM_052841, UCSC Genome Browser:NM_052841, UniProtKB:Q96PN8 No chr1 32818365 32830098 32362261 32364325 +PA134908318 283629 HGNC:19825 ENSG00000139908 testis specific serine kinase 4 TSSK4 chromosome 14 open reading frame 20, testis-specific serine kinase 4 C14orf20, STK22E Yes No Ensembl:ENSG00000139908, GeneCard:TSSK4, HGNC:HGNC:19825, ModBase:Q6SA08, NCBI Gene:283629, OMIM:610711, RefSeq DNA:NT_026437, RefSeq Protein:NP_001171668, RefSeq Protein:NP_777604, RefSeq RNA:NM_001184739, RefSeq RNA:NM_174944, UniProtKB:Q6SA08 No chr14 24674753 24677568 24205524 24208362 +PA142670682 83983 HGNC:30410 ENSG00000178093 testis specific serine kinase 6 TSSK6 cancer/testis antigen 72, testis-specific serine kinase 6 CT72, FLJ24002, SSTK Yes No Comparative Toxicogenomics Database:83983, Ensembl:ENSG00000178093, GeneCard:TSSK6, HGNC:HGNC:30410, HumanCyc Gene:HS11248, ModBase:Q9BXA6, NCBI Gene:83983, OMIM:610712, RefSeq DNA:NT_011295, RefSeq Protein:NP_114426, RefSeq RNA:NM_032037, UniProtKB:Q9BXA6 No chr19 19625028 19626469 19514219 19515660 +PA37055 7263 HGNC:12388 ENSG00000128311 thiosulfate sulfurtransferase TST rhodanese, thiosulfate sulfurtransferase (rhodanese) RDS Yes No Comparative Toxicogenomics Database:7263, Ensembl:ENSG00000128311, GenAtlas:TST, GeneCard:TST, HGNC:HGNC:12388, HumanCyc Gene:HS05179, ModBase:Q16762, NCBI Gene:7263, OMIM:180370, RefSeq DNA:NT_011520, RefSeq Protein:NP_003303, RefSeq RNA:NM_003312, UCSC Genome Browser:NM_003312, UniProtKB:Q16762 No chr22 37406900 37416224 37010859 37020183 +PA165752768 100131187 HGNC:35410 ENSG00000215845 thiosulfate sulfurtransferase like domain containing 1 TSTD1 thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 KAT Yes No Ensembl:ENSG00000215845, GeneCard:TSTD1, HGNC:HGNC:35410, NCBI Gene:100131187, RefSeq DNA:NT_004487, RefSeq Protein:NP_001106676, RefSeq Protein:NP_001106677, RefSeq Protein:NP_001106678, RefSeq RNA:NM_001113205, RefSeq RNA:NM_001113206, RefSeq RNA:NM_001113207, UniProtKB:Q8NFU3 No chr1 161007418 161008887 161037631 161038984 +PA165586365 158427 HGNC:30087 ENSG00000136925 thiosulfate sulfurtransferase like domain containing 2 TSTD2 rhodanese like domain containing 2, thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 C9orf97, PP4189 Yes No Ensembl:ENSG00000136925, GeneCard:TSTD2, HGNC:HGNC:30087, HumanCyc Gene:HS13648, ModBase:Q5T7W7, NCBI Gene:158427, RefSeq DNA:NT_008470, RefSeq Protein:NP_640339, RefSeq RNA:NM_139246, UniProtKB:Q5T7W7 No chr9 100362362 100395962 97600080 97633680 +PA166049070 100130890 HGNC:40910 ENSG00000279170 thiosulfate sulfurtransferase like domain containing 3 TSTD3 thiosulfate sulfurtransferase (rhodanese)-like domain containing 3 Yes No Ensembl:ENSG00000279170, HGNC:HGNC:40910, NCBI Gene:100130890 No chr6 99968870 99981061 99424854 99579288 +PA134866142 84630 HGNC:19140 ENSG00000146216 tau tubulin kinase 1 TTBK1 KIAA1855 Yes No Ensembl:ENSG00000146216, GeneCard:TTBK1, HGNC:HGNC:19140, ModBase:Q5TCY1, NCBI Gene:84630, RefSeq DNA:NT_007592, RefSeq Protein:NP_115927, RefSeq RNA:NM_032538, UniProtKB:Q5TCY1 No chr6 43211222 43255997 43243484 43288259 +PA134913925 146057 HGNC:19141 ENSG00000128881 tau tubulin kinase 2 TTBK2 KIAA0847, SCA11 Yes No Comparative Toxicogenomics Database:146057, Ensembl:ENSG00000128881, GeneCard:TTBK2, HGNC:HGNC:19141, HumanCyc Gene:HS13825, ModBase:Q6IQ55, NCBI Gene:146057, OMIM:604432, OMIM:611695, RefSeq DNA:NG_012664, RefSeq DNA:NT_010194, RefSeq Protein:NP_775771, RefSeq RNA:NM_173500, UniProtKB:Q6IQ55, UniProtKB:Q8IWY7 No chr15 43030928 43213037 42738974 42920995 +PA37057 7265 HGNC:12391 ENSG00000113312 tetratricopeptide repeat domain 1 TTC1 TPR1 Yes No Comparative Toxicogenomics Database:7265, Ensembl:ENSG00000113312, GenAtlas:TTC1, GeneCard:TTC1, HGNC:HGNC:12391, HumanCyc Gene:HS03668, ModBase:Q99614, NCBI Gene:7265, OMIM:601963, RefSeq DNA:NT_023133, RefSeq Protein:NP_003305, RefSeq RNA:NM_003314, UCSC Genome Browser:NM_003314, UniProtKB:Q99614 No chr5 159436156 159492550 160009100 160065545 +PA134886066 54970 HGNC:23700 ENSG00000149292 tetratricopeptide repeat domain 12 TTC12 tetratricopeptide repeat and armadillo repeat protein FLJ13859, FLJ20535, TPARM Yes No Ensembl:ENSG00000149292, GeneCard:TTC12, HGNC:HGNC:23700, HumanCyc Gene:HS07600, ModBase:Q9H892, NCBI Gene:54970, OMIM:610732, RefSeq DNA:NT_033899, RefSeq Protein:NP_060338, RefSeq RNA:NM_017868, UniProtKB:A8K8G6, UniProtKB:Q53G14, UniProtKB:Q9H892 No chr11 113185251 113244345 113314529 113385952 +PA134931681 79573 HGNC:26204 ENSG00000143643 tetratricopeptide repeat domain 13 TTC13 FLJ22584 Yes No Comparative Toxicogenomics Database:79573, Ensembl:ENSG00000143643, GeneCard:TTC13, HGNC:HGNC:26204, ModBase:Q8NBP0, NCBI Gene:79573, RefSeq DNA:NT_167186, RefSeq Protein:NP_001116307, RefSeq Protein:NP_078801, RefSeq RNA:NM_001122835, RefSeq RNA:NM_024525, UniProtKB:Q8NBP0 No chr1 231041987 231114618 230906241 230978872 +PA134937037 151613 HGNC:24697 ENSG00000163728 tetratricopeptide repeat domain 14 TTC14 FLJ00166, KIAA1980 Yes No Ensembl:ENSG00000163728, GeneCard:TTC14, HGNC:HGNC:24697, ModBase:Q96N46, NCBI Gene:151613, RefSeq DNA:NT_005612, RefSeq Protein:NP_001036066, RefSeq Protein:NP_597719, RefSeq RNA:NM_001042601, RefSeq RNA:NM_133462, UniProtKB:Q69YS0, UniProtKB:Q86TA5, UniProtKB:Q96N46 No chr3 180319918 180336120 180602130 180618347 +PA134871808 158248 HGNC:26536 ENSG00000167094 tetratricopeptide repeat domain 16 TTC16 FLJ32780 Yes No Comparative Toxicogenomics Database:158248, Ensembl:ENSG00000167094, GeneCard:TTC16, HGNC:HGNC:26536, HumanCyc Gene:HS15517, ModBase:Q8NEE8, NCBI Gene:158248, RefSeq DNA:NT_008470, RefSeq Protein:NP_659402, RefSeq RNA:NM_144965, UniProtKB:Q8NEE8 No chr9 130478358 130493879 127716064 127731600 +PA134912435 55761 HGNC:25596 ENSG00000052841 tetratricopeptide repeat domain 17 TTC17 FLJ10890 Yes No Comparative Toxicogenomics Database:55761, Ensembl:ENSG00000052841, GeneCard:TTC17, HGNC:HGNC:25596, HumanCyc Gene:HS12130, ModBase:Q96AE7, NCBI Gene:55761, RefSeq DNA:NT_009237, RefSeq Protein:NP_060729, RefSeq RNA:NM_018259, UniProtKB:Q96AE7 No chr11 43380435 43516483 43358885 43494933 +PA134922384 54902 HGNC:26006 ENSG00000011295 tetratricopeptide repeat domain 19 TTC19 Tetratricopeptide repeat protein 19, mitochondrial FLJ20343, MGC19520 Yes No Comparative Toxicogenomics Database:54902, Ensembl:ENSG00000011295, GeneCard:TTC19, HGNC:HGNC:26006, HumanCyc Gene:HS12042, ModBase:Q6DKK2, NCBI Gene:54902, RefSeq DNA:NT_010718, RefSeq Protein:NP_060245, RefSeq RNA:NM_017775, RefSeq RNA:NR_037985, UniProtKB:Q6DKK2 No chr17 15902694 15932723 15999380 16045428 +PA134915959 199223 HGNC:30761 ENSG00000168026 tetratricopeptide repeat domain 21A TTC21A Stress-inducible protein 2 IFT139A, STI2, Thm2 Yes No Ensembl:ENSG00000168026, GeneCard:TTC21A, HGNC:HGNC:30761, HumanCyc Gene:HS15627, NCBI Gene:199223, OMIM:611430, RefSeq DNA:NT_022517, RefSeq Protein:NP_001098983, RefSeq Protein:NP_665698, RefSeq RNA:NM_001105513, RefSeq RNA:NM_145755, UniProtKB:D4PHA5, UniProtKB:Q8NDW8 No chr3 39149152 39180394 39107661 39139009 +PA134882767 79809 HGNC:25660 ENSG00000123607 tetratricopeptide repeat domain 21B TTC21B Nephronophthisis type12, intraflagellar transport 139 homolog, tetratricopeptide repeat-containing hedgehog modulator-1 CFAP60, FAP60, FLA17, FLJ11457, IFT139, IFT139B, JBTS11, NPHP12, THM1 Yes No Ensembl:ENSG00000123607, GeneCard:TTC21B, HGNC:HGNC:25660, ModBase:Q7Z4L5, NCBI Gene:79809, OMIM:612014, RefSeq DNA:NT_005403, RefSeq Protein:NP_079029, RefSeq RNA:NM_024753, UniProtKB:Q7Z4L5 No chr2 166729872 166810348 165873362 165953838 +PA142670674 55001 HGNC:26067 ENSG00000006555 tetratricopeptide repeat domain 22 TTC22 FLJ20619 Yes No Ensembl:ENSG00000006555, GeneCard:TTC22, HGNC:HGNC:26067, HumanCyc Gene:HS12013, ModBase:Q5TAA0, NCBI Gene:55001, RefSeq DNA:NT_032977, RefSeq Protein:NP_001107580, RefSeq Protein:NP_060374, RefSeq RNA:NM_001114108, RefSeq RNA:NM_017904, UniProtKB:Q5TAA0 No chr1 55246752 55266941 54779696 54802379 +PA142670675 64927 HGNC:25730 ENSG00000103852 tetratricopeptide repeat domain 23 TTC23 FLJ12572, HCC-8 Yes No Comparative Toxicogenomics Database:64927, Ensembl:ENSG00000103852, GeneCard:TTC23, HGNC:HGNC:25730, HumanCyc Gene:HS12533, ModBase:Q5W5X9, NCBI Gene:64927, RefSeq DNA:NT_010274, RefSeq Protein:NP_001035745, RefSeq Protein:NP_001035746, RefSeq Protein:NP_001035747, RefSeq Protein:NP_001035748, RefSeq Protein:NP_001035749, RefSeq Protein:NP_001035750, RefSeq Protein:NP_075056, RefSeq RNA:NM_001040655, RefSeq RNA:NM_001040656, RefSeq RNA:NM_001040657, RefSeq RNA:NM_001040658, RefSeq RNA:NM_001040659, RefSeq RNA:NM_001040660, RefSeq RNA:NM_022905, UniProtKB:Q5W5X9 No chr15 99676528 99791431 99136323 99251226 +PA162407169 153657 HGNC:26355 ENSG00000205838 tetratricopeptide repeat domain 23 like TTC23L tetratricopeptide repeat domain 23-like FLJ25439 Yes No Ensembl:ENSG00000205838, GeneCard:TTC23L, HGNC:HGNC:26355, ModBase:Q6PF05, NCBI Gene:153657, RefSeq DNA:NT_006576, RefSeq Protein:NP_653326, RefSeq RNA:NM_144725, UniProtKB:Q6PF05 No chr5 34839269 34899567 34839164 34900511 +PA142670676 164118 HGNC:32348 ENSG00000187862 tetratricopeptide repeat domain 24 TTC24 Yes No Ensembl:ENSG00000187862, GeneCard:TTC24, HGNC:HGNC:32348, NCBI Gene:164118, RefSeq DNA:NT_004487, RefSeq Protein:NP_001099139, RefSeq RNA:NM_001105669, UniProtKB:A2A3L6 No chr1 156549519 156556562 156579727 156587717 +PA145007326 55622 HGNC:25986 ENSG00000018699 tetratricopeptide repeat domain 27 TTC27 FLJ20272 Yes No Ensembl:ENSG00000018699, GeneCard:TTC27, HGNC:HGNC:25986, HumanCyc Gene:HS12058, ModBase:Q6P3X3, NCBI Gene:55622, RefSeq DNA:NT_022184, RefSeq Protein:NP_001180438, RefSeq Protein:NP_060205, RefSeq RNA:NM_001193509, RefSeq RNA:NM_017735, UniProtKB:Q6P3X3 No chr2 32853087 33046118 32628020 32821051 +PA145147752 23331 HGNC:29179 ENSG00000100154 tetratricopeptide repeat domain 28 TTC28 KIAA1043 Yes No Ensembl:ENSG00000100154, GeneCard:TTC28, HGNC:HGNC:29179, HumanCyc Gene:HS12392, ModBase:Q9Y3S5, NCBI Gene:23331, RefSeq DNA:NT_011520, RefSeq Protein:NP_001138890, RefSeq RNA:NM_001145418, UniProtKB:Q96AY4 No chr22 28374002 29075853 27978014 28679865 +PA165378373 284900 HGNC:29336 ENSG00000235954 TTC28 antisense RNA 1 TTC28-AS1 KIAA1648 Yes No Ensembl:ENSG00000235954, GeneCard:TTC28AS, HGNC:HGNC:29336, NCBI Gene:284900, RefSeq DNA:NT_011520, RefSeq RNA:NR_026962, RefSeq RNA:NR_026963 No chr22 28315364 28398667 27919376 28002679 +PA145147799 83894 HGNC:29936 ENSG00000137473 tetratricopeptide repeat domain 29 TTC29 NYD-SP14 Yes No Ensembl:ENSG00000137473, GeneCard:TTC29, HGNC:HGNC:29936, HumanCyc Gene:HS13684, ModBase:Q8NA56, NCBI Gene:83894, RefSeq DNA:NT_016354, RefSeq Protein:NP_114162, RefSeq RNA:NM_031956, UniProtKB:Q8NA56, UniProtKB:Q8TC83 No chr4 147628179 147867034 146706638 146945886 +PA37058 7267 HGNC:12393 ENSG00000182670 tetratricopeptide repeat domain 3 TTC3 DCRR1, RNF105, TPRD, TPRDI, TPRDII, TPRDIII Yes No Comparative Toxicogenomics Database:7267, Ensembl:ENSG00000182670, GenAtlas:TTC3, GeneCard:TTC3, HGNC:HGNC:12393, ModBase:P53804, NCBI Gene:7267, OMIM:602259, RefSeq DNA:NT_011512, RefSeq Protein:NP_001001894, RefSeq Protein:NP_003307, RefSeq RNA:NM_001001894, RefSeq RNA:NM_003316, UCSC Genome Browser:NM_003316, UniProtKB:P53804 No chr21 38445554 38575408 37073184 37203118 +PA145147843 64427 HGNC:25759 ENSG00000115282 tetratricopeptide repeat domain 31 TTC31 FLJ12788 Yes No Ensembl:ENSG00000115282, GeneCard:TTC31, HGNC:HGNC:25759, HumanCyc Gene:HS12838, NCBI Gene:64427, RefSeq DNA:NT_022184, RefSeq Protein:NP_071937, RefSeq RNA:NM_022492, RefSeq RNA:NR_027749, UniProtKB:Q49AM3 No chr2 74710200 74721691 74483032 74494564 +PA145147867 130502 HGNC:32954 ENSG00000183891 tetratricopeptide repeat domain 32 TTC32 Yes No Comparative Toxicogenomics Database:130502, Ensembl:ENSG00000183891, GeneCard:TTC32, HGNC:HGNC:32954, ModBase:Q5I0X7, NCBI Gene:130502, RefSeq DNA:NT_015926, RefSeq Protein:NP_001008238, RefSeq RNA:NM_001008237, UniProtKB:Q5I0X7 No chr2 20096514 20101747 19896631 19901986 +PA162407196 23548 HGNC:29959 ENSG00000113638 tetratricopeptide repeat domain 33 TTC33 osmosis responsive factor OSRF Yes No Ensembl:ENSG00000113638, GeneCard:TTC33, HGNC:HGNC:29959, HumanCyc Gene:HS12799, ModBase:Q6PID6, NCBI Gene:23548, RefSeq DNA:NT_006576, RefSeq Protein:NP_036514, RefSeq RNA:NM_012382, UniProtKB:Q6PID6 No chr5 40711678 40756072 40711576 40756965 +PA162407211 100287898 HGNC:34297 ENSG00000215912 tetratricopeptide repeat domain 34 TTC34 Yes No Ensembl:ENSG00000215912, GeneCard:TTC34, HGNC:HGNC:34297, NCBI Gene:100287898, RefSeq DNA:NT_004350, RefSeq Protein:NP_001229601, RefSeq Protein:XP_001714285, RefSeq Protein:XP_001717088, RefSeq Protein:XP_002342056, RefSeq RNA:NM_001242672, RefSeq RNA:XM_001714233, RefSeq RNA:XM_001717036, RefSeq RNA:XM_002342015, UniProtKB:A8MYJ7 No chr1 2572807 2706230 2636988 2789737 +PA162407225 143941 HGNC:33708 ENSG00000172425 tetratricopeptide repeat domain 36 TTC36 HSP70 binding protein 21 HBP21 Yes No Ensembl:ENSG00000172425, GeneCard:TTC36, HGNC:HGNC:33708, ModBase:A6NLP5, NCBI Gene:143941, RefSeq DNA:NT_033899, RefSeq Protein:NP_001073910, RefSeq RNA:NM_001080441, UniProtKB:A6NLP5 No chr11 118398210 118401740 118527495 118531025 +PA162407227 55020 HGNC:26082 ENSG00000075234 tetratricopeptide repeat domain 38 TTC38 FLJ20699 Yes No Ensembl:ENSG00000075234, GeneCard:TTC38, HGNC:HGNC:26082, HumanCyc Gene:HS12234, ModBase:Q5R3I4, NCBI Gene:55020, RefSeq DNA:NT_011520, RefSeq Protein:NP_060401, RefSeq RNA:NM_017931, UniProtKB:Q5R3I4 No chr22 46663861 46689905 46267964 46294008 +PA162407260 22996 HGNC:18657 ENSG00000085831 tetratricopeptide repeat domain 39A TTC39A C1orf34, DEME-6, KIAA0452 Yes No Ensembl:ENSG00000085831, GeneCard:TTC39A, HGNC:HGNC:18657, HumanCyc Gene:HS01509, ModBase:Q5SRI1, NCBI Gene:22996, RefSeq DNA:NT_032977, RefSeq Protein:NP_001073963, RefSeq Protein:NP_001138304, RefSeq RNA:NM_001080494, RefSeq RNA:NM_001144832, UniProtKB:Q5SRH9 No chr1 51752930 51810785 51287258 51345116 +PA162407261 158219 HGNC:23704 ENSG00000155158 tetratricopeptide repeat domain 39B TTC39B C9orf52, FLJ33868 Yes No Ensembl:ENSG00000155158, GeneCard:TTC39B, HGNC:HGNC:23704, HumanCyc Gene:HS08033, ModBase:Q5VTQ0, NCBI Gene:158219, RefSeq DNA:NT_008413, RefSeq Protein:NP_001161811, RefSeq Protein:NP_001161812, RefSeq Protein:NP_001161813, RefSeq Protein:NP_001161814, RefSeq Protein:NP_689787, RefSeq RNA:NM_001168339, RefSeq RNA:NM_001168340, RefSeq RNA:NM_001168341, RefSeq RNA:NM_001168342, RefSeq RNA:NM_152574, UniProtKB:A5PLN1, UniProtKB:B4DQ10, UniProtKB:B4DQX4, UniProtKB:B4DW93, UniProtKB:Q5VTQ0, UniProtKB:Q8IXZ6 No chr9 15170842 15307358 15167204 15307360 +PA162407262 125488 HGNC:26595 ENSG00000168234 tetratricopeptide repeat domain 39C TTC39C C18orf17, FLJ33761, HsT2697 Yes No Ensembl:ENSG00000168234, GeneCard:TTC39C, HGNC:HGNC:26595, HumanCyc Gene:HS15648, NCBI Gene:125488, RefSeq DNA:NT_010966, RefSeq Protein:NP_001129465, RefSeq Protein:NP_694943, RefSeq RNA:NM_001135993, RefSeq RNA:NM_153211, RefSeq RNA:NR_024232, UniProtKB:Q8N584 No chr18 21572737 21715574 23992773 24135952 +PA142670683 286495 HGNC:23318 ENSG00000215105 tetratricopeptide repeat domain 3 pseudogene 1 TTC3P1 RNF105L Yes No Ensembl:ENSG00000215105, HGNC:HGNC:23318, NCBI Gene:286495, RefSeq DNA:NG_007179, RefSeq DNA:NT_011669, RefSeq RNA:NR_030737 No chrX 74960373 74962914 75740538 75743079 +PA37059 7268 HGNC:12394 ENSG00000243725 tetratricopeptide repeat domain 4 TTC4 CNS1, FLJ41930, MGC5097 Yes No Comparative Toxicogenomics Database:7268, Ensembl:ENSG00000243725, GenAtlas:TTC4, GeneCard:TTC4, HGNC:HGNC:12394, ModBase:O95801, NCBI Gene:7268, OMIM:606753, RefSeq DNA:NT_032977, RefSeq Protein:NP_004614, RefSeq RNA:NM_004623, UCSC Genome Browser:NM_004623, UniProtKB:O95801 No chr1 55181495 55208330 54715822 54742657 +PA134919164 91875 HGNC:19274 ENSG00000136319 tetratricopeptide repeat domain 5 TTC5 Stress-responsive activator of p300 Strap Yes No Ensembl:ENSG00000136319, GeneCard:TTC5, HGNC:HGNC:19274, HumanCyc Gene:HS13627, ModBase:Q8N0Z6, NCBI Gene:91875, RefSeq DNA:NT_026437, RefSeq Protein:NP_612385, RefSeq RNA:NM_138376, UniProtKB:Q86T04, UniProtKB:Q8N0Z6 No chr14 20757290 20774153 20289131 20305994 +PA134868995 319089 HGNC:19739 ENSG00000139865 tetratricopeptide repeat domain 6 TTC6 C14orf25, NCRNA00291 Yes Yes Ensembl:ENSG00000139865, GeneCard:TTC6, HGNC:HGNC:19739, ModBase:Q86TZ1, NCBI Gene:319089, RefSeq DNA:NT_026437, RefSeq Protein:XP_002343340, RefSeq Protein:XP_002344803, RefSeq Protein:XP_002347467, RefSeq RNA:XM_002343299, RefSeq RNA:XM_002344762, RefSeq RNA:XM_002347426 No chr14 38064941 38218563 37595199 37842628 +PA134993362 57217 HGNC:19750 ENSG00000068724 tetratricopeptide repeat domain 7A TTC7A KIAA1140, TTC7 Yes No Comparative Toxicogenomics Database:57217, Ensembl:ENSG00000068724, GeneCard:TTC7A, HGNC:HGNC:19750, HumanCyc Gene:HS12196, ModBase:Q9ULT0, NCBI Gene:57217, OMIM:609332, RefSeq DNA:NT_022184, RefSeq Protein:NP_065191, RefSeq RNA:NM_020458, UniProtKB:Q2T9J9, UniProtKB:Q9ULT0 No chr2 47168313 47303275 46915931 47076136 +PA134947112 145567 HGNC:19858 ENSG00000165914 tetratricopeptide repeat domain 7B TTC7B TTC7L1 Yes No Comparative Toxicogenomics Database:145567, Ensembl:ENSG00000165914, GeneCard:TTC7B, HGNC:HGNC:19858, ModBase:Q86TV6, NCBI Gene:145567, RefSeq DNA:NT_026437, RefSeq Protein:NP_001010854, RefSeq RNA:NM_001010854, UniProtKB:Q6PIF1, UniProtKB:Q86TV6 No chr14 91006932 91282823 90540588 90816479 +PA134877629 123016 HGNC:20087 ENSG00000165533 tetratricopeptide repeat domain 8 TTC8 BBS8, RP51 Yes No Comparative Toxicogenomics Database:123016, Ensembl:ENSG00000165533, GeneCard:TTC8, HGNC:HGNC:20087, HumanCyc Gene:HS15339, ModBase:Q8TAM2, NCBI Gene:123016, OMIM:209900, OMIM:608132, OMIM:613464, RefSeq DNA:NG_008126, RefSeq DNA:NT_026437, RefSeq Protein:NP_653197, RefSeq Protein:NP_938051, RefSeq Protein:NP_938052, RefSeq RNA:NM_144596, RefSeq RNA:NM_198309, RefSeq RNA:NM_198310, UniProtKB:A6NFG2, UniProtKB:B3KSL8, UniProtKB:B3KWA5, UniProtKB:Q67B97, UniProtKB:Q86U25, UniProtKB:Q8TAM2 No chr14 89290574 89344335 88824153 88877996 +PA134905515 23508 HGNC:20267 ENSG00000133985 tetratricopeptide repeat domain 9 TTC9 KIAA0227, TTC9A Yes No Comparative Toxicogenomics Database:23508, Ensembl:ENSG00000133985, GeneCard:TTC9, HGNC:HGNC:20267, NCBI Gene:23508, OMIM:610488, RefSeq DNA:NG_012648, RefSeq DNA:NT_026437, RefSeq Protein:NP_056166, RefSeq RNA:NM_015351, UniProtKB:Q92623 No chr14 71108504 71142077 70641787 70675360 +PA142670684 148014 HGNC:26395 ENSG00000174521 tetratricopeptide repeat domain 9B TTC9B FLJ30373 Yes No Comparative Toxicogenomics Database:148014, Ensembl:ENSG00000174521, GeneCard:TTC9B, HGNC:HGNC:26395, HumanCyc Gene:HS16358, ModBase:Q8N6N2, NCBI Gene:148014, RefSeq DNA:NT_011109, RefSeq Protein:NP_689692, RefSeq RNA:NM_152479, UniProtKB:Q8N6N2 No chr19 40721965 40724306 40216058 40218694 +PA142670685 283237 HGNC:28432 ENSG00000162222 tetratricopeptide repeat domain 9C TTC9C MGC29649 Yes No Comparative Toxicogenomics Database:283237, Ensembl:ENSG00000162222, GeneCard:TTC9C, HGNC:HGNC:28432, ModBase:Q8N5M4, NCBI Gene:283237, RefSeq DNA:NT_167190, RefSeq Protein:NP_776171, RefSeq RNA:NM_173810, UniProtKB:Q8N5M4 No chr11 62495545 62506110 62728073 62738636 +PA37062 7270 HGNC:12397 ENSG00000125482 transcription termination factor 1 TTF1 transcription termination factor, RNA polymerase I Yes No Comparative Toxicogenomics Database:7270, Ensembl:ENSG00000125482, GenAtlas:TTF1, GeneCard:TTF1, HGNC:HGNC:12397, HumanCyc Gene:HS04892, ModBase:Q15361, NCBI Gene:7270, OMIM:600777, RefSeq DNA:NT_035014, RefSeq Protein:NP_001192225, RefSeq Protein:NP_031370, RefSeq RNA:NM_001205296, RefSeq RNA:NM_007344, UCSC Genome Browser:NM_007344, UniProtKB:Q15361 No chr9 135250935 135282238 132375548 132406851 +PA37063 8458 HGNC:12398 ENSG00000116830 transcription termination factor 2 TTF2 """transcription release factor 2"", ""transcription termination factor, RNA polymerase II"", ""zinc finger, GRF-type containing 6""" HuF2, ZGRF6 Yes No Comparative Toxicogenomics Database:8458, Ensembl:ENSG00000116830, GenAtlas:TTF2, GeneCard:TTF2, HGNC:HGNC:12398, HumanCyc Gene:HS04061, ModBase:Q9UNY4, NCBI Gene:8458, OMIM:604718, RefSeq DNA:NT_032977, RefSeq Protein:NP_003585, RefSeq RNA:NM_003594, UCSC Genome Browser:NM_003594, UniProtKB:Q9UNY4 No chr1 117602910 117645492 117060288 117107453 +PA165392722 9675 HGNC:29029 ENSG00000101407 TELO2 interacting protein 1 TTI1 smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans) KIAA0406, smg-10 Yes No Ensembl:ENSG00000101407, GeneCard:TTI1, HGNC:HGNC:29029, HumanCyc Gene:HS12454, ModBase:O43156, NCBI Gene:9675, RefSeq DNA:NT_011362, RefSeq Protein:NP_055472, RefSeq RNA:NM_014657, UniProtKB:O43156 No chr20 36611419 36661870 37983007 38033468 +PA142672360 80185 HGNC:26262 ENSG00000129696 TELO2 interacting protein 2 TTI2 C8orf41, FLJ23263 Yes No Ensembl:ENSG00000129696, GeneCard:C8orf41, HGNC:HGNC:26262, HumanCyc Gene:HS13308, ModBase:Q6NXR4, NCBI Gene:80185, RefSeq DNA:NT_167187, RefSeq Protein:NP_001095871, RefSeq Protein:NP_079391, RefSeq RNA:NM_001102401, RefSeq RNA:NM_025115, UniProtKB:Q6NXR4 No chr8 33356027 33370703 33498509 33513601 +PA37066 7272 HGNC:12401 ENSG00000112742 TTK protein kinase TTK cancer/testis antigen 96, monopolar spindle 1 kinase CT96, MPH1, MPS1, MPS1L1 Yes No Comparative Toxicogenomics Database:7272, Ensembl:ENSG00000112742, GenAtlas:TTK, GeneCard:TTK, HGNC:HGNC:12401, HumanCyc Gene:HS03614, ModBase:P33981, NCBI Gene:7272, OMIM:604092, RefSeq DNA:NT_007299, RefSeq Protein:NP_001160163, RefSeq Protein:NP_003309, RefSeq RNA:NM_001166691, RefSeq RNA:NM_003318, UCSC Genome Browser:NM_003318, UniProtKB:A8K8U5, UniProtKB:P33981 No chr6 80714322 80752244 80004147 80043577 +PA134934330 150465 HGNC:21586 ENSG00000114999 tubulin tyrosine ligase TTL MGC46235 Yes No Comparative Toxicogenomics Database:150465, Ensembl:ENSG00000114999, GeneCard:TTL, HGNC:HGNC:21586, HumanCyc Gene:HS03822, NCBI Gene:150465, OMIM:608291, RefSeq DNA:NT_022135, RefSeq Protein:NP_714923, RefSeq RNA:NM_153712, UniProtKB:Q8NG68 No chr2 113239743 113290223 112482127 112532646 +PA35030 25809 HGNC:1312 ENSG00000100271 TTL family tubulin polyglutamylase complex subunit L1 TTLL1 """polyglutamylase subunit 3"", ""tubulin tyrosine ligase like 1"", ""tubulin tyrosine ligase-like family, member 1""" C22orf7, PGs3, TPGS3 Yes No Ensembl:ENSG00000100271, GenAtlas:TTLL1, GeneCard:TTLL1, HGNC:HGNC:1312, HumanCyc Gene:HS02019, NCBI Gene:25809, OMIM:608955, RefSeq DNA:NT_011520, RefSeq Protein:NP_001008572, RefSeq Protein:NP_036395, RefSeq RNA:NM_001008572, RefSeq RNA:NM_012263, RefSeq RNA:NR_027779, UCSC Genome Browser:NM_012263, UniProtKB:O95922 No chr22 43435522 43485434 43039516 43089428 +PA142670679 254173 HGNC:26693 ENSG00000162571 tubulin tyrosine ligase like 10 TTLL10 tubulin tyrosine ligase-like family, member 10 FLJ36119, TTLL5 Yes No Comparative Toxicogenomics Database:254173, Ensembl:ENSG00000162571, GeneCard:TTLL10, HGNC:HGNC:26693, HumanCyc Gene:HS14935, NCBI Gene:254173, RefSeq DNA:NT_004350, RefSeq Protein:NP_001123517, RefSeq Protein:NP_694986, RefSeq RNA:NM_001130045, RefSeq RNA:NM_153254, UniProtKB:Q6ZVT0 No chr1 1109286 1133315 1173709 1197936 +PA25977 158135 HGNC:18113 ENSG00000175764 tubulin tyrosine ligase like 11 TTLL11 tubulin tyrosine ligase-like family, member 11 C9orf148, C9orf20, TTLL11-IT1, bA244O19.1 Yes No Ensembl:ENSG00000175764, GenAtlas:TTLL11, GeneCard:TTLL11, HGNC:HGNC:18113, ModBase:Q8NHH1, NCBI Gene:158135, RefSeq DNA:NT_008470, RefSeq Protein:NP_001132914, RefSeq Protein:NP_919228, RefSeq RNA:NM_001139442, RefSeq RNA:NM_194252, UniProtKB:Q6ZUZ3, UniProtKB:Q8NHH1 No chr9 124577953 124855885 121815674 122093606 +PA143485663 23170 HGNC:28974 ENSG00000100304 tubulin tyrosine ligase like 12 TTLL12 tubulin tyrosine ligase-like family, member 12 KIAA0153 Yes No Comparative Toxicogenomics Database:23170, Ensembl:ENSG00000100304, GeneCard:TTLL12, HGNC:HGNC:28974, HumanCyc Gene:HS02035, ModBase:Q14166, NCBI Gene:23170, RefSeq DNA:NT_011520, RefSeq Protein:NP_055955, RefSeq RNA:NM_015140, UniProtKB:Q14166 No chr22 43562628 43583137 43166622 43187131 +PA143485664 440307 HGNC:32484 tubulin tyrosine ligase like 13 TTLL13 tubulin tyrosine ligase-like family, member 13 FLJ46079, MGC33417, TTLL13P Yes No GeneCard:TTLL13, HGNC:HGNC:32484, NCBI Gene:440307, RefSeq DNA:NT_010274, RefSeq Protein:NP_001025135, RefSeq RNA:NM_001029964, UniProtKB:A6NNM8 No chr15 90792764 90808709 90249532 90259088 +PA134888799 83887 HGNC:21211 ENSG00000120440 tubulin tyrosine ligase like 2 TTLL2 tubulin tyrosine ligase-like family, member 2 C6orf104, NYD-TSPG, dJ366N23.3 Yes No Ensembl:ENSG00000120440, GeneCard:TTLL2, HGNC:HGNC:21211, HumanCyc Gene:HS04401, NCBI Gene:83887, RefSeq DNA:NT_025741, RefSeq Protein:NP_114155, RefSeq RNA:NM_031949, UniProtKB:Q9BWV7 No chr6 167738574 167756177 167325086 167342710 +PA134942870 26140 HGNC:24483 ENSG00000214021 tubulin tyrosine ligase like 3 TTLL3 tubulin tyrosine ligase-like family, member 3 DKFZP434B103, HOTTL Yes No Ensembl:ENSG00000214021, GeneCard:TTLL3, HGNC:HGNC:24483, HumanCyc Gene:HS08166, ModBase:Q9Y4R7, NCBI Gene:26140, RefSeq DNA:NT_022517, RefSeq Protein:NP_001021100, RefSeq RNA:NM_001025930, RefSeq RNA:NR_037162, UniProtKB:Q9Y4R7 No chr3 9851632 9878040 9809960 9836356 +PA134935712 9654 HGNC:28976 ENSG00000135912 tubulin tyrosine ligase like 4 TTLL4 tubulin tyrosine ligase-like family, member 4 KIAA0173 Yes No Ensembl:ENSG00000135912, GeneCard:TTLL4, HGNC:HGNC:28976, HumanCyc Gene:HS06080, NCBI Gene:9654, RefSeq DNA:NT_005403, RefSeq Protein:NP_055455, RefSeq RNA:NM_014640, UniProtKB:Q14679 No chr2 219575558 219620139 218710835 218757484 +PA164742694 23093 HGNC:19963 ENSG00000119685 tubulin tyrosine ligase like 5 TTLL5 """SRC1 and TIF2-associated modulatory protein"", ""tubulin polyglutamylase TTLL5"", ""tubulin tyrosine ligase-like family, member 5""" KIAA0998, STAMP Yes No Ensembl:ENSG00000119685, GeneCard:TTLL5, HGNC:HGNC:19963, HumanCyc Gene:HS17037, NCBI Gene:23093, OMIM:612268, RefSeq DNA:NG_016974, RefSeq DNA:NT_026437, RefSeq Protein:NP_055887, RefSeq RNA:NM_015072, UniProtKB:Q6EMB2 No chr14 76127551 76421425 75661208 75955082 +PA143485662 284076 HGNC:26664 ENSG00000170703 tubulin tyrosine ligase like 6 TTLL6 tubulin tyrosine ligase-like family, member 6 FLJ35808 Yes No Comparative Toxicogenomics Database:284076, Ensembl:ENSG00000170703, GeneCard:TTLL6, HGNC:HGNC:26664, HumanCyc Gene:HS15910, NCBI Gene:284076, OMIM:610849, RefSeq DNA:NT_010783, RefSeq Protein:NP_001124390, RefSeq Protein:NP_775894, RefSeq RNA:NM_001130918, RefSeq RNA:NM_173623, UniProtKB:Q8N841 No chr17 46839593 46894469 48762231 48817253 +PA142670678 79739 HGNC:26242 ENSG00000137941 tubulin tyrosine ligase like 7 TTLL7 tubulin tyrosine ligase-like family, member 7 FLJ23033 Yes No Ensembl:ENSG00000137941, GeneCard:TTLL7, HGNC:HGNC:26242, HumanCyc Gene:HS06421, ModBase:Q6ZT98, NCBI Gene:79739, RefSeq DNA:NT_032977, RefSeq Protein:NP_078962, RefSeq RNA:NM_024686, UniProtKB:Q6ZT98 No chr1 84335057 84464850 83865021 83999340 +PA162407295 164714 HGNC:34000 ENSG00000138892 tubulin tyrosine ligase like 8 TTLL8 tubulin tyrosine ligase-like family, member 8 Yes No Ensembl:ENSG00000138892, GeneCard:TTLL8, HGNC:HGNC:34000, NCBI Gene:164714, RefSeq DNA:NT_011526, RefSeq Protein:NP_001073916, RefSeq Protein:XP_003403542, RefSeq RNA:NM_001080447, RefSeq RNA:XM_003403494, UniProtKB:B5MDV0 No chr22 50466026 50496636 50018575 50058227 +PA25666 164395 HGNC:16118 ENSG00000131044 tubulin tyrosine ligase like 9 TTLL9 tubulin tyrosine ligase-like family, member 9 C20orf125, dJ310O13.1 Yes No Ensembl:ENSG00000131044, GenAtlas:TTLL9, GeneCard:TTLL9, HGNC:HGNC:16118, ModBase:Q3SXZ7, NCBI Gene:164395, RefSeq DNA:NT_011362, RefSeq Protein:NP_001008409, RefSeq RNA:NM_001008409, UniProtKB:Q3SXZ7 No chr20 30458440 30532770 31870702 31944959 +PA37067 7273 HGNC:12403 ENSG00000155657 titin TTN CMD1G, CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD Yes No Comparative Toxicogenomics Database:7273, Ensembl:ENSG00000155657, GenAtlas:TTN, GeneCard:TTN, HGNC:HGNC:12403, HumanCyc Gene:HS08061, NCBI Gene:7273, OMIM:188840, OMIM:600334, OMIM:603689, OMIM:604145, OMIM:608807, OMIM:611705, RefSeq DNA:NG_011618, RefSeq DNA:NT_005403, RefSeq Protein:NP_003310, RefSeq Protein:NP_596869, RefSeq Protein:NP_596870, RefSeq Protein:NP_597676, RefSeq Protein:NP_597681, RefSeq RNA:NM_003319, RefSeq RNA:NM_133378, RefSeq RNA:NM_133379, RefSeq RNA:NM_133432, RefSeq RNA:NM_133437, UCSC Genome Browser:NM_001927, UCSC Genome Browser:NM_003319, UniProtKB:Q4ZG20 No chr2 179390716 179672150 178525989 178807423 +PA37068 7274 HGNC:12404 ENSG00000137561 alpha tocopherol transfer protein TTPA tocopherol (alpha) transfer protein AVED Yes No Comparative Toxicogenomics Database:7274, Ensembl:ENSG00000137561, GenAtlas:TTPA, GeneCard:TTPA, HGNC:HGNC:12404, HumanCyc Gene:HS06360, ModBase:P49638, NCBI Gene:7274, OMIM:277460, OMIM:600415, RefSeq DNA:NG_016123, RefSeq DNA:NT_008183, RefSeq Protein:NP_000361, RefSeq RNA:NM_000370, UCSC Genome Browser:NM_000370, UniProtKB:P49638 No chr8 63972047 63998612 63058409 63086523 +PA162407296 79183 HGNC:16114 ENSG00000124120 alpha tocopherol transfer protein like TTPAL tocopherol (alpha) transfer protein-like C20orf121, dJ179M20.3 Yes No Ensembl:ENSG00000124120, GeneCard:TTPAL, HGNC:HGNC:16114, HumanCyc Gene:HS04715, ModBase:Q9BTX7, NCBI Gene:79183, RefSeq DNA:NT_011362, RefSeq Protein:NP_001034288, RefSeq Protein:NP_077307, RefSeq RNA:NM_001039199, RefSeq RNA:NM_024331, UniProtKB:Q9BTX7 No chr20 43104526 43123244 44475886 44494603 +PA37069 7276 HGNC:12405 ENSG00000118271 transthyretin TTR CTS, CTS1, HsT2651, PALB Yes No Comparative Toxicogenomics Database:1507, Comparative Toxicogenomics Database:7276, Ensembl:ENSG00000118271, GenAtlas:CTS1, GenAtlas:TTR, GeneCard:CTS1, GeneCard:TTR, HGNC:HGNC:12405, HumanCyc Gene:HS04209, ModBase:P02766, NCBI Gene:7276, OMIM:105210, OMIM:115430, OMIM:145680, OMIM:176300, RefSeq DNA:NG_009490, RefSeq DNA:NT_010966, RefSeq Protein:NP_000362, RefSeq RNA:NM_000371, UCSC Genome Browser:NM_000371, UniProtKB:P02766 No chr18 29171730 29178987 31591767 31599024 +PA37835 50858 HGNC:14022 ENSG00000129845 testis-specific transcript, Y-linked 1 (non-protein coding) TTTY1 long intergenic non-protein coding RNA 33, non-protein coding RNA 33 LINC00033, NCRNA00033, TTY1 Yes No Ensembl:ENSG00000129845, GenAtlas:TTTY1, GeneCard:TTTY1, HGNC:HGNC:14022, NCBI Gene:50858, RefSeq DNA:NT_011878, RefSeq RNA:NR_001538 No chrY 9590765 9611898 9753156 9774319 +PA38554 246119 HGNC:18491 ENSG00000229236 testis-specific transcript, Y-linked 10 (non-protein coding) TTTY10 non-protein coding RNA 133 NCRNA00133 Yes No Ensembl:ENSG00000229236, GenAtlas:TTTY10, GeneCard:TTTY10, HGNC:HGNC:18491, NCBI Gene:246119, RefSeq DNA:NT_011875, RefSeq RNA:NR_001542, UCSC Genome Browser:NM_139210 No chrY 22627554 22681114 20465668 20519228 +PA38555 83866 HGNC:18492 ENSG00000180910 testis-specific transcript, Y-linked 11 (non-protein coding) TTTY11 non-protein coding RNA 134 NCRNA00134, TTY11 Yes No Ensembl:ENSG00000180910, GenAtlas:TTTY11, GeneCard:TTTY11, HGNC:HGNC:18492, HumanCyc Gene:HS13376, NCBI Gene:83866, RefSeq DNA:NT_011896, RefSeq RNA:NR_001548, UCSC Genome Browser:NM_031929 No chrY 8651354 8685423 8783313 8817382 +PA38556 83867 HGNC:18493 ENSG00000237048 testis-specific transcript, Y-linked 12 (non-protein coding) TTTY12 non-protein coding RNA 135 NCRNA00135, TTY11 Yes No Ensembl:ENSG00000237048, GenAtlas:TTTY12, GeneCard:TTTY12, HGNC:HGNC:18493, NCBI Gene:83867, RefSeq DNA:NT_011896, RefSeq RNA:NR_001551, UCSC Genome Browser:NM_031930 No chrY 7672965 7678724 7804924 7810683 +PA38557 83868 HGNC:18494 ENSG00000184991 testis-specific transcript, Y-linked 13 (non-protein coding) TTTY13 non-protein coding RNA 136 NCRNA00136, TTY13 Yes No Ensembl:ENSG00000184991, GenAtlas:TTTY13, GeneCard:TTTY13, HGNC:HGNC:18494, NCBI Gene:83868, RefSeq DNA:NG_004832, RefSeq DNA:NT_011875, RefSeq RNA:NR_001537, UCSC Genome Browser:NM_031931 No chrY 23745486 23756552 21583600 21594666 +PA165791660 100287735 HGNC:38596 testis-specific transcript, Y-linked 13B TTTY13B Yes No GeneCard:TTTY13B, HGNC:HGNC:38596, NCBI Gene:100287735, RefSeq DNA:NT_086998, RefSeq Protein:XP_002344480, RefSeq Protein:XP_002346392, RefSeq Protein:XP_002348283, RefSeq RNA:XM_002344439, RefSeq RNA:XM_002346351, RefSeq RNA:XM_002348242 No chrY +PA165791693 100287979 HGNC:38613 testis-specific transcript, Y-linked 13C TTTY13C Yes No GeneCard:TTTY13C, HGNC:HGNC:38613, NCBI Gene:100287979, RefSeq DNA:NT_011896, RefSeq Protein:XP_002344243, RefSeq Protein:XP_002346391, RefSeq Protein:XP_002348284, RefSeq RNA:XM_002344202, RefSeq RNA:XM_002346350, RefSeq RNA:XM_002348243 No chrY +PA38558 83869 HGNC:18495 ENSG00000176728 testis-specific transcript, Y-linked 14 (non-protein coding) TTTY14 non-protein coding RNA 137 NCRNA00137, NCRNA00185, PRO2834, TTY14 Yes No Ensembl:ENSG00000176728, GenAtlas:TTTY14, GeneCard:TTTY14, HGNC:HGNC:18495, NCBI Gene:83869, RefSeq DNA:NT_011875, RefSeq RNA:NR_001543, UCSC Genome Browser:NM_031932 No chrY 21212994 21239302 18872501 19077547 +PA38579 64595 HGNC:18567 testis-specific transcript, Y-linked 15 (non-protein coding) TTTY15 non-protein coding RNA 138 DKFZP434I143, NCRNA00138 Yes No GenAtlas:TTTY15, GeneCard:TTTY15, HGNC:HGNC:18567, NCBI Gene:64595, RefSeq DNA:NT_011875, RefSeq RNA:NR_001545 No chrY 14774298 14804153 12662367 12692224 +PA38703 252948 HGNC:18840 testis-specific transcript, Y-linked 16 (non-protein coding) TTTY16 non-protein coding RNA 139 NCRNA00139 Yes No GenAtlas:TTTY16, GeneCard:TTTY16, HGNC:HGNC:18840, NCBI Gene:252948, RefSeq DNA:NT_011896, RefSeq RNA:NR_001552 No chrY 7567398 7569288 7699357 7701247 +PA162407313 252949 HGNC:18841 ENSG00000228240 testis-specific transcript, Y-linked 17A (non-protein coding) TTTY17A non-protein coding RNA 140 NCRNA00140 Yes No Ensembl:ENSG00000228240, GeneCard:TTTY17A, HGNC:HGNC:18841, NCBI Gene:252949, OMIM:400040, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_001526 No chrY 24997731 24998862 22851584 22852715 +PA134962568 474151 HGNC:31889 ENSG00000227439 testis-specific transcript, Y-linked 17B (non-protein coding) TTTY17B non-protein coding RNA 141 NCRNA00141 Yes No Ensembl:ENSG00000227439, GeneCard:TTTY17B, HGNC:HGNC:31889, NCBI Gene:474151, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_002180 No chrY 26631479 26632610 24485332 24486463 +PA134863151 474152 HGNC:31890 ENSG00000223641 testis-specific transcript, Y-linked 17C (non-protein coding) TTTY17C non-protein coding RNA 142 NCRNA00142 Yes No Ensembl:ENSG00000223641, GeneCard:TTTY17C, HGNC:HGNC:31890, NCBI Gene:474152, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_002179 No chrY 27329790 27330920 25183643 25184773 +PA38705 252950 HGNC:18842 ENSG00000233699 testis-specific transcript, Y-linked 18 (non-protein coding) TTTY18 non-protein coding RNA 143 NCRNA00143 Yes No Ensembl:ENSG00000233699, GenAtlas:TTTY18, GeneCard:TTTY18, HGNC:HGNC:18842, NCBI Gene:252950, RefSeq DNA:NT_011896, RefSeq RNA:NR_001550 No chrY 8551411 8551919 8683370 8683878 +PA38706 252952 HGNC:18843 ENSG00000232419 testis-specific transcript, Y-linked 19 (non-protein coding) TTTY19 non-protein coding RNA 144 NCRNA00144 Yes No Ensembl:ENSG00000232419, GenAtlas:TTTY19, GeneCard:TTTY19, HGNC:HGNC:18843, NCBI Gene:252952, RefSeq DNA:NT_011896, RefSeq RNA:NR_001549 No chrY 8572513 8573324 8704472 8705283 +PA165791722 100101116 HGNC:37981 ENSG00000129816 testis-specific transcript, Y-linked 1B (non-protein coding) TTTY1B Yes No Ensembl:ENSG00000129816, GeneCard:TTTY1B, HGNC:HGNC:37981, NCBI Gene:100101116, RefSeq DNA:NT_011896, RefSeq RNA:NR_003589 No chrY 6258442 6279605 6390401 6411564 +PA37836 60439 HGNC:14023 ENSG00000212855 testis-specific transcript, Y-linked 2 (non-protein coding) TTTY2 long intergenic non-protein coding RNA 109 TTY2, lINC00109 Yes No Ensembl:ENSG00000212855, GenAtlas:TTTY2, GeneCard:TTTY2, HGNC:HGNC:14023, NCBI Gene:60439, RefSeq DNA:NT_011878, RefSeq RNA:NR_001536 No chrY 9573895 9596085 9736286 9758476 +PA38707 252951 HGNC:18844 ENSG00000232808 testis-specific transcript, Y-linked 20 (non-protein coding) TTTY20 non-protein coding RNA 145 NCRNA00145 Yes No Ensembl:ENSG00000232808, GenAtlas:TTTY20, GeneCard:TTTY20, HGNC:HGNC:18844, NCBI Gene:252951, RefSeq DNA:NT_086998, RefSeq RNA:NR_001546 No chrY 9167489 9172441 9329880 9334832 +PA38708 252953 HGNC:18845 ENSG00000228890 testis-specific transcript, Y-linked 21 (non-protein coding) TTTY21 non-protein coding RNA 146 NCRNA00146 Yes No Ensembl:ENSG00000228890, GenAtlas:TTTY21, GeneCard:TTTY21, HGNC:HGNC:18845, NCBI Gene:252953, RefSeq DNA:NT_011878, RefSeq RNA:NR_001535 No chrY 9555262 9558905 9717653 9721296 +PA165791723 100101115 HGNC:37980 ENSG00000237563 testis-specific transcript, Y-linked 21B (non-protein coding) TTTY21B Yes No Ensembl:ENSG00000237563, GeneCard:TTTY21B, HGNC:HGNC:37980, NCBI Gene:100101115, RefSeq DNA:NT_011896, RefSeq RNA:NR_003588 No chrY 6311475 6315118 6443434 6447077 +PA38709 252954 HGNC:18846 ENSG00000224075 testis-specific transcript, Y-linked 22 (non-protein coding) TTTY22 non-protein coding RNA 147 NCRNA00147 Yes No Ensembl:ENSG00000224075, GenAtlas:TTTY22, GeneCard:TTTY22, HGNC:HGNC:18846, NCBI Gene:252954, RefSeq DNA:NT_011878, RefSeq RNA:NR_001539 No chrY 9638762 9650854 9801153 9813245 +PA38710 252955 HGNC:18847 ENSG00000239225 testis-specific transcript, Y-linked 23 (non-protein coding) TTTY23 non-protein coding RNA 148 NCRNA00148 Yes No Ensembl:ENSG00000239225, GenAtlas:TTTY23, GeneCard:TTTY23, HGNC:HGNC:18847, NCBI Gene:252955, RefSeq DNA:NT_011878, RefSeq RNA:NR_001540 No chrY 9748407 9749593 9910798 9911962 +PA165791756 100101121 HGNC:37983 ENSG00000250204 testis-specific transcript, Y-linked 23B (non-protein coding) TTTY23B Yes No Ensembl:ENSG00000250204, GeneCard:TTTY23B, HGNC:HGNC:37983, NCBI Gene:100101121, RefSeq DNA:NT_011896, RefSeq RNA:NR_003593 No chrY 6110465 6111651 6242446 6243610 +PA165791805 100101117 HGNC:37982 ENSG00000212856 testis-specific transcript, Y-linked 2B (non-protein coding) TTTY2B Yes No Ensembl:ENSG00000212856, GeneCard:TTTY2B, HGNC:HGNC:37982, NCBI Gene:100101117, RefSeq DNA:NT_011896, RefSeq RNA:NR_003590 No chrY 6274285 6296485 6406244 6428444 +PA38148 114760 HGNC:16480 ENSG00000231141 testis-specific transcript, Y-linked 3 (non-protein coding) TTTY3 long intergenic non-protein coding RNA 121 LINC00121, TTTY3A, TTY3 Yes No Ensembl:ENSG00000231141, GenAtlas:TTTY3, GeneCard:TTTY3, HGNC:HGNC:16480, NCBI Gene:114760, OMIM:400036, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_001524 No chrY 27874637 27879535 25728490 25733388 +PA134913314 474148 HGNC:31888 ENSG00000280961 testis-specific transcript, Y-linked 3B (non-protein coding) TTTY3B long intergenic non-protein coding RNA 122 LNCRNA00122 Yes No Ensembl:ENSG00000280961, GeneCard:TTTY3B, HGNC:HGNC:31888, NCBI Gene:474148, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_002176 No chrY 26082874 26087769 23936727 23941622 +PA38149 114761 HGNC:16481 ENSG00000226906 testis-specific transcript, Y-linked 4 (non-protein coding) TTTY4 long intergenic non-protein coding RNA 123 LINC00123, TTTY4A, TTY4 Yes No Ensembl:ENSG00000226906, GenAtlas:TTTY4, GeneCard:TTTY4, HGNC:HGNC:16481, NCBI Gene:114761, OMIM:400037, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_001525 No chrY 25082602 25119431 22936455 22973284 +PA134861789 474149 HGNC:31891 ENSG00000235412 testis-specific transcript, Y-linked 4B (non-protein coding) TTTY4B long intergenic non-protein coding RNA 124 LINC00124 Yes No Ensembl:ENSG00000235412, GeneCard:TTTY4B, HGNC:HGNC:31891, NCBI Gene:474149, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_002178 No chrY 26716349 26753172 24570202 24607025 +PA134910504 474150 HGNC:31892 ENSG00000228296 testis-specific transcript, Y-linked 4C (non-protein coding) TTTY4C long intergenic non-protein coding RNA 125 LINC00125 Yes No Ensembl:ENSG00000228296, GeneCard:TTTY4C, HGNC:HGNC:31892, NCBI Gene:474150, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_002177 No chrY 27209230 27246039 25063083 25099892 +PA38150 83863 HGNC:16482 ENSG00000215560 testis-specific transcript, Y-linked 5 (non-protein coding) TTTY5 long intergenic non-protein coding RNA 126 LINC00126, TTY5 Yes No Ensembl:ENSG00000215560, GenAtlas:TTTY5, GeneCard:TTTY5, HGNC:HGNC:16482, NCBI Gene:83863, OMIM:400038, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_001541 No chrY 24442945 24445023 22296798 22298876 +PA38151 84672 HGNC:16483 ENSG00000131538 testis-specific transcript, Y-linked 6 (non-protein coding) TTTY6 long intergenic non-protein coding RNA 127 LINC00127, TTTY6A, TTY6 Yes No Ensembl:ENSG00000131538, GenAtlas:TTTY6, GeneCard:TTTY6, HGNC:HGNC:16483, HumanCyc Gene:HS13387, HumanCyc Gene:HS13388, NCBI Gene:84672, OMIM:400039, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_001527, UCSC Genome Browser:NM_032585 No chrY 24585740 24587606 22439590 22441459 +PA134872370 441543 HGNC:31887 ENSG00000131548 testis-specific transcript, Y-linked 6B (non-protein coding) TTTY6B long intergenic non-protein coding RNA 128 LINC00128 Yes No Ensembl:ENSG00000131548, GeneCard:TTTY6B, HGNC:HGNC:31887, NCBI Gene:441543, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903, RefSeq RNA:NR_002175 No chrY 24291134 24292981 22144987 22146834 +PA38551 246122 HGNC:18488 ENSG00000147753 testis-specific transcript, Y-linked 7 (non-protein coding) TTTY7 long intergenic non-protein coding RNA 129 LINC00129, TTTY7A Yes No Ensembl:ENSG00000147753, GenAtlas:TTTY7, GeneCard:TTTY7, HGNC:HGNC:18488, NCBI Gene:246122, RefSeq DNA:NT_011896, RefSeq RNA:NR_001534 No chrY 6317509 6325947 6449468 6457906 +PA165791806 100101120 HGNC:37463 ENSG00000147761 testis-specific transcript, Y-linked 7B (non-protein coding) TTTY7B non-protein coding RNA 215 NCRNA00215 Yes No Ensembl:ENSG00000147761, GeneCard:TTTY7B, HGNC:HGNC:37463, NCBI Gene:100101120, RefSeq DNA:NT_011878, RefSeq RNA:NR_003592 No chrY 9544433 9552871 9706824 9715262 +PA38552 84673 HGNC:18489 ENSG00000183385 testis-specific transcript, Y-linked 8 (non-protein coding) TTTY8 long intergenic non-protein coding RNA 130, non-protein coding RNA 130 LINC00130, NCRNA00130, TTY8 Yes No Ensembl:ENSG00000183385, GenAtlas:TTTY8, GeneCard:TTTY8, HGNC:HGNC:18489, NCBI Gene:84673, RefSeq DNA:NT_011878, RefSeq RNA:NR_001533, UCSC Genome Browser:NM_032586 No chrY 9528709 9531308 9691100 9693699 +PA165791869 100101118 HGNC:37622 ENSG00000185700 testis-specific transcript, Y-linked 8B (non-protein coding) TTTY8B non-protein coding RNA 217 NCRNA00217 Yes No Ensembl:ENSG00000185700, GeneCard:TTTY8B, HGNC:HGNC:37622, NCBI Gene:100101118, RefSeq DNA:NT_011896, RefSeq RNA:NR_003591 No chrY 6339072 6341671 6471031 6473630 +PA38553 83864 HGNC:18490 testis-specific transcript, Y-linked 9A (non-protein coding) TTTY9A non-protein coding RNA 131 NCRNA00131, TTY9 Yes No GenAtlas:TTTY9A, GeneCard:TTTY9A, HGNC:HGNC:18490, HumanCyc Gene:HS13365, HumanCyc Gene:HS13366, NCBI Gene:83864, RefSeq DNA:NT_011875, RefSeq RNA:NR_001530, UCSC Genome Browser:NM_031927 No chrY 20891768 20901083 18729882 18739197 +PA142670673 425057 HGNC:32425 ENSG00000131007 testis-specific transcript, Y-linked 9B (non-protein coding) TTTY9B non-protein coding RNA 132 NCRNA00132 Yes No Ensembl:ENSG00000131007, GeneCard:TTTY9B, HGNC:HGNC:32425, NCBI Gene:425057, RefSeq DNA:NT_011875, RefSeq RNA:NR_002159 No chrY 20743092 20752407 18581206 18590521 +PA37778 57348 HGNC:13476 ENSG00000167614 tweety family member 1 TTYH1 tweety homolog 1 (Drosophila) Yes No Comparative Toxicogenomics Database:57348, Ensembl:ENSG00000167614, GenAtlas:TTYH1, GeneCard:TTYH1, HGNC:HGNC:13476, HumanCyc Gene:HS09591, ModBase:Q6ZTE5, NCBI Gene:57348, OMIM:605784, RefSeq DNA:NT_011109, RefSeq Protein:NP_001005367, RefSeq Protein:NP_001188390, RefSeq Protein:NP_065710, RefSeq RNA:NM_001005367, RefSeq RNA:NM_001201461, RefSeq RNA:NM_020659, UCSC Genome Browser:NM_020659, UniProtKB:Q9H313 No chr19 54926605 54947899 54415431 54436719 +PA37823 94015 HGNC:13877 ENSG00000141540 tweety family member 2 TTYH2 tweety homolog 2 (Drosophila) C17orf29 Yes No Comparative Toxicogenomics Database:94015, Ensembl:ENSG00000141540, GenAtlas:TTYH2, GeneCard:TTYH2, HGNC:HGNC:13877, HumanCyc Gene:HS13890, NCBI Gene:94015, OMIM:608855, RefSeq DNA:NT_010783, RefSeq Protein:NP_116035, RefSeq Protein:NP_443101, RefSeq RNA:NM_032646, RefSeq RNA:NM_052869, UCSC Genome Browser:NM_032646, UniProtKB:B3KX97, UniProtKB:Q8N3U8, UniProtKB:Q9BSA4 No chr17 72209696 72258159 74213557 74262020 +PA134908427 80727 HGNC:22222 ENSG00000136295 tweety family member 3 TTYH3 tweety homolog 3 (Drosophila) KIAA1691 Yes No Comparative Toxicogenomics Database:80727, Ensembl:ENSG00000136295, GeneCard:TTYH3, HGNC:HGNC:22222, ModBase:Q9C0H2, NCBI Gene:80727, OMIM:608919, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_079526, RefSeq RNA:NM_025250, UniProtKB:Q9C0H2 No chr7 2671603 2704436 2631969 2664802 +PA37070 7275 HGNC:12406 ENSG00000166402 TUB bipartite transcription factor TUB tubby bipartite transcription factor, tubby homolog (mouse) rd5 Yes No Comparative Toxicogenomics Database:7275, Ensembl:ENSG00000166402, GenAtlas:TUB, GeneCard:TUB, HGNC:HGNC:12406, HumanCyc Gene:HS09391, ModBase:P50607, NCBI Gene:7275, OMIM:601197, RefSeq DNA:NT_009237, RefSeq Protein:NP_003311, RefSeq Protein:NP_813977, RefSeq RNA:NM_003320, RefSeq RNA:NM_177972, UCSC Genome Browser:NM_003320, UniProtKB:P50607 No chr11 8040742 8127654 8019180 8106107 +PA162407319 7846 HGNC:20766 ENSG00000167552 tubulin alpha 1a TUBA1A """tubulin, alpha 1a"", ""tubulin, alpha, brain-specific""" B-ALPHA-1, FLJ25113, TUBA3 Yes No Ensembl:ENSG00000167552, GeneCard:TUBA1A, HGNC:HGNC:20766, HumanCyc Gene:HS04660, HumanCyc Gene:HS09576, ModBase:Q71U36, NCBI Gene:7846, OMIM:602529, OMIM:611603, RefSeq DNA:NG_008966, RefSeq DNA:NT_029419, RefSeq Protein:NP_006000, RefSeq RNA:NM_006009, UniProtKB:Q71U36 No chr12 49578578 49583107 49184795 49189324 +PA162407332 10376 HGNC:18809 ENSG00000123416 tubulin alpha 1b TUBA1B """tubulin, alpha 1b"", ""tubulin, alpha, ubiquitous""" K-ALPHA-1 Yes No Ensembl:ENSG00000123416, GeneCard:TUBA1B, HGNC:HGNC:18809, ModBase:P68363, NCBI Gene:10376, OMIM:602530, RefSeq DNA:NT_029419, RefSeq Protein:NP_006073, RefSeq RNA:NM_006082, UniProtKB:P68363 No chr12 49521565 49525304 49127782 49131521 +PA162407345 84790 HGNC:20768 ENSG00000167553 tubulin alpha 1c TUBA1C tubulin, alpha 1c MGC10851, MGC14580, TUBA6, bcm948 Yes No Ensembl:ENSG00000167553, GeneCard:TUBA1C, HGNC:HGNC:20768, HumanCyc Gene:HS09577, ModBase:Q9BQE3, NCBI Gene:84790, RefSeq DNA:NT_029419, RefSeq Protein:NP_116093, RefSeq RNA:NM_032704, UniProtKB:Q9BQE3 No chr12 49621715 49667117 49227926 49273338 +PA162407346 7278 HGNC:12408 ENSG00000198033 tubulin alpha 3c TUBA3C tubulin, alpha 3c TUBA2, bA408E5.3 Yes No Ensembl:ENSG00000198033, GeneCard:TUBA3C, HGNC:HGNC:12408, HumanCyc Gene:HS01191, HumanCyc Gene:HS07789, NCBI Gene:7278, OMIM:602528, RefSeq DNA:NT_024524, RefSeq Protein:NP_005992, RefSeq RNA:NM_006001, UniProtKB:Q13748, UniProtKB:Q1ZYQ1 No chr13 19747910 19755992 19173770 19181852 +PA162407361 113457 HGNC:24071 ENSG00000075886 tubulin alpha 3d TUBA3D """alpha-tubulin isotype H2-alpha"", ""tubulin, alpha 3d""" H2-ALPHA Yes No Ensembl:ENSG00000075886, GeneCard:TUBA3D, HGNC:HGNC:24071, ModBase:Q13748, NCBI Gene:113457, RefSeq DNA:NT_022135, RefSeq Protein:NP_525125, RefSeq RNA:NM_080386 No chr2 132233580 132240507 131476007 131482934 +PA162407376 112714 HGNC:20765 ENSG00000152086 tubulin alpha 3e TUBA3E tubulin, alpha 3e Yes No Ensembl:ENSG00000152086, GeneCard:TUBA3E, HGNC:HGNC:20765, ModBase:Q6PEY2, NCBI Gene:112714, RefSeq DNA:NT_022135, RefSeq Protein:NP_997195, RefSeq RNA:NM_207312, UniProtKB:Q6PEY2 No chr2 130949318 130956034 130191745 130198461 +PA162407391 7277 HGNC:12407 ENSG00000127824 tubulin alpha 4a TUBA4A tubulin, alpha 4a FLJ30169, H2-ALPHA, TUBA1 Yes No Ensembl:ENSG00000127824, GeneCard:TUBA4A, HGNC:HGNC:12407, HumanCyc Gene:HS05127, ModBase:P68366, NCBI Gene:7277, OMIM:191110, RefSeq DNA:NT_005403, RefSeq Protein:NP_005991, RefSeq RNA:NM_006000, UniProtKB:P68366 No chr2 220114433 220119330 219249711 219254608 +PA38613 80086 HGNC:18637 ENSG00000243910 tubulin alpha 4b TUBA4B tubulin, alpha 4b (pseudogene) FLJ13940, TUBA4 Yes No Comparative Toxicogenomics Database:80086, Ensembl:ENSG00000243910, GenAtlas:TUBA4, GeneCard:TUBA4B, HGNC:HGNC:18637, NCBI Gene:80086, RefSeq RNA:NM_001355221, UCSC Genome Browser:NM_025019 No chr2 220117965 220136910 219253243 219272188 +PA37074 51807 HGNC:12410 ENSG00000183785 tubulin alpha 8 TUBA8 tubulin, alpha 8 TUBAL2 Yes No Comparative Toxicogenomics Database:51807, Ensembl:ENSG00000183785, GenAtlas:TUBA8, GeneCard:TUBA8, HGNC:HGNC:12410, ModBase:Q9NY65, NCBI Gene:51807, OMIM:605742, OMIM:613180, RefSeq DNA:NG_023429, RefSeq DNA:NT_011519, RefSeq Protein:NP_001180343, RefSeq Protein:NP_061816, RefSeq RNA:NM_001193414, RefSeq RNA:NM_018943, UCSC Genome Browser:NM_018943, UniProtKB:Q9NY65 No chr22 18593453 18614498 18110687 18131731 +PA134953102 79861 HGNC:23534 ENSG00000178462 tubulin alpha like 3 TUBAL3 tubulin, alpha-like 3 FLJ21665 Yes No Ensembl:ENSG00000178462, GeneCard:TUBAL3, HGNC:HGNC:23534, HumanCyc Gene:HS11288, ModBase:A6NHL2, NCBI Gene:79861, RefSeq DNA:NT_008705, RefSeq Protein:NP_001165335, RefSeq Protein:NP_079079, RefSeq RNA:NM_001171864, RefSeq RNA:NM_024803, UniProtKB:A6NHL2 No chr10 5435061 5446793 5393098 5404830 +PA37893 399942 HGNC:14531 ENSG00000214391 tubulin, alpha pseudogene 2 TUBAP2 Yes No Ensembl:ENSG00000214391, GenAtlas:TUBAP2, GeneCard:TUBAP2, HGNC:HGNC:14531, NCBI Gene:399942 No chr11 90015728 90017336 90282560 90284168 +PA358 203068 HGNC:20778 ENSG00000183311, ENSG00000196230, ENSG00000224156, ENSG00000227739, ENSG00000229684, ENSG00000232421, ENSG00000232575, ENSG00000235067 tubulin beta class I TUBB """beta1-tubulin"", ""class I beta-tubulin"", ""tubulin, beta class I""" M40, MGC16435, OK/SW-cl.56, Tubb5 Yes No Comparative Toxicogenomics Database:203068, Ensembl:ENSG00000183311, Ensembl:ENSG00000196230, Ensembl:ENSG00000224156, Ensembl:ENSG00000227739, Ensembl:ENSG00000229684, Ensembl:ENSG00000232421, Ensembl:ENSG00000232575, Ensembl:ENSG00000235067, GenAtlas:TUBB, GeneCard:TUBB, HGNC:HGNC:20778, NCBI Gene:203068, OMIM:191130, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_821133, RefSeq RNA:NM_178014, UCSC Genome Browser:NM_001069, UniProtKB:P07437, UniProtKB:Q5SU16 No chr6 30688012 30693199 30720201 30725426 +PA38100 81027 HGNC:16257 ENSG00000101162 tubulin beta 1 class VI TUBB1 """class VI beta-tubulin"", ""tubulin, beta 1 class VI""" dJ543J19.4 Yes Yes Ensembl:ENSG00000101162, GenAtlas:TUBB1, GeneCard:TUBB1, HGNC:HGNC:16257, HumanCyc Gene:HS02207, ModBase:Q9H4B7, NCBI Gene:81027, OMIM:612901, OMIM:613112, RefSeq DNA:NG_023424, RefSeq DNA:NT_011362, RefSeq Protein:NP_110400, RefSeq RNA:NM_030773, UCSC Genome Browser:NM_030773, UniProtKB:Q9H4B7 No chr20 57594309 57601709 59016026 59026654 +PA142670670 7280 HGNC:12412 ENSG00000137267 tubulin beta 2A class IIa TUBB2A """class IIa beta-tubulin"", ""tubulin, beta 2A class IIa""" TUBB, TUBB2, dJ40E16.7 Yes Yes Comparative Toxicogenomics Database:7280, Ensembl:ENSG00000137267, GeneCard:TUBB2A, HGNC:HGNC:12412, HumanCyc Gene:HS06300, HumanCyc Gene:HS06305, ModBase:Q13885, NCBI Gene:7280, RefSeq DNA:NT_007592, RefSeq Protein:NP_001060, RefSeq RNA:NM_001069, UniProtKB:Q13885 No chr6 3153900 3157783 3153666 3157549 +PA142670671 347733 HGNC:30829 ENSG00000137285 tubulin beta 2B class IIb TUBB2B """class IIb beta-tubulin"", ""tubulin, beta 2B class IIb""" DKFZp566F223, MGC8685, bA506K6.1 Yes No Comparative Toxicogenomics Database:347733, Ensembl:ENSG00000137285, GeneCard:TUBB2B, HGNC:HGNC:30829, ModBase:Q9BVA1, NCBI Gene:347733, OMIM:610031, OMIM:612850, RefSeq DNA:NG_016715, RefSeq DNA:NT_007592, RefSeq Protein:NP_821080, RefSeq RNA:NM_178012, UniProtKB:Q9BVA1 No chr6 3224495 3227968 3224261 3227734 +PA134953867 10381 HGNC:20772 ENSG00000258947 tubulin beta 3 class III TUBB3 """class III beta-tubulin"", ""tubulin, beta 3 class III""" CFEOM3, CFEOM3A, FEOM3, beta-4 Yes Yes Comparative Toxicogenomics Database:10381, Ensembl:ENSG00000258947, GeneCard:TUBB3, HGNC:HGNC:20772, ModBase:Q13509, NCBI Gene:10381, OMIM:600638, OMIM:602661, RefSeq DNA:NT_010542, RefSeq Protein:NP_001184110, RefSeq Protein:NP_006077, RefSeq RNA:NM_001197181, RefSeq RNA:NM_006086, UniProtKB:Q13509 No chr16 89988417 90002505 89922009 89936097 +PA134949465 10382 HGNC:20774 ENSG00000104833 tubulin beta 4A class IVa TUBB4A """class IVa beta-tubulin"", ""tubulin, beta 4A class IVa""" DYT4, TUBB4, beta-5 Yes No Comparative Toxicogenomics Database:10382, Ensembl:ENSG00000104833, GeneCard:TUBB4, HGNC:HGNC:20774, HumanCyc Gene:HS02630, ModBase:P04350, NCBI Gene:10382, OMIM:602662, RefSeq DNA:NT_011255, RefSeq Protein:NP_006078, RefSeq RNA:NM_006087, UniProtKB:P04350 No chr19 6494330 6502595 6494319 6502848 +PA142670672 10383 HGNC:20771 ENSG00000188229 tubulin beta 4B class IVb TUBB4B """class IVb beta-tubulin"", ""tubulin, beta 4B class IVb""" Beta2, TUBB2C Yes No Comparative Toxicogenomics Database:10383, Ensembl:ENSG00000188229, GeneCard:TUBB2C, HGNC:HGNC:20771, ModBase:P68371, NCBI Gene:10383, OMIM:602660, RefSeq DNA:NT_024000, RefSeq Protein:NP_006079, RefSeq RNA:NM_006088, UniProtKB:P68371 No chr9 140135711 140138159 137241259 137243707 +PA128394736 84617 HGNC:20776 ENSG00000176014 tubulin beta 6 class V TUBB6 """class V beta-tubulin"", ""tubulin beta MGC4083"", ""tubulin, beta 6 class V""" HsT1601, MGC4083 Yes No Comparative Toxicogenomics Database:84617, Ensembl:ENSG00000176014, GeneCard:TUBB6, HGNC:HGNC:20776, HumanCyc Gene:HS10990, ModBase:Q9BUF5, NCBI Gene:84617, RefSeq DNA:NT_010859, RefSeq Protein:NP_115914, RefSeq RNA:NM_032525, UCSC Genome Browser:NM_032525, UniProtKB:Q9BUF5 No chr18 12308218 12326568 12307669 12329826 +PA37076 56604 HGNC:12413 ENSG00000251297 tubulin, beta 7, pseudogene TUBB7P Yes No Ensembl:ENSG00000251297, GenAtlas:TUBB4Q, GeneCard:TUBB7P, HGNC:HGNC:12413, HumanCyc Gene:HS05120, ModBase:Q99867, NCBI Gene:56604, RefSeq DNA:NT_016354, RefSeq Protein:NP_064424, RefSeq RNA:NM_020040, UCSC Genome Browser:NM_020040, UniProtKB:Q99867 No chr4 190903490 190906024 189982335 189984869 +PA166048953 347688 HGNC:20773 ENSG00000261456 tubulin beta 8 class VIII TUBB8 """class VIII beta-tubulin"", ""tubulin, beta 8 class VIII""" bA631M21.2 Yes No Ensembl:ENSG00000261456, HGNC:HGNC:20773, NCBI Gene:347688 No chr10 92828 95178 46437 49504 +PA166352261 260334 HGNC:24983 tubulin beta 8B TUBB8B TUBB8P12 Yes No HGNC:HGNC:24983, NCBI Gene:260334 No 0 0 0 0 +PA37077 92755 HGNC:12414 ENSG00000127589 tubulin, beta pseudogene 1 TUBBP1 Yes No Ensembl:ENSG00000127589, GenAtlas:TUBBP1, GeneCard:TUBBP1, HGNC:HGNC:12414, NCBI Gene:92755, RefSeq DNA:NG_001206, RefSeq DNA:NT_167187 No chr8 30209396 30211038 30351857 30353521 +PA37078 647000 HGNC:12415 ENSG00000214222 tubulin, beta pseudogene 2 TUBBP2 Yes No Ensembl:ENSG00000214222, GenAtlas:TUBBP2, GeneCard:TUBBP2, HGNC:HGNC:12415, NCBI Gene:647000, RefSeq DNA:NG_011428, RefSeq DNA:NT_024524 No chr13 41957824 41959291 41383682 41385076 +PA134980920 326106 HGNC:18192 ENSG00000258406 tubulin, beta pseudogene 3 TUBBP3 Yes No Ensembl:ENSG00000258406, GeneCard:TUBBP3, HGNC:HGNC:18192, NCBI Gene:326106, RefSeq DNA:NG_002529, RefSeq DNA:NT_026437 No chr14 43744171 43745052 43274968 43275849 +PA134899845 493816 HGNC:19913 tubulin, beta pseudogene 4 TUBBP4 bA537H15.5 Yes No GeneCard:TUBBP4, HGNC:HGNC:19913, NCBI Gene:493816 No chr9 34109197 34109451 34109199 34109453 +PA134867163 643224 HGNC:23674 ENSG00000159247 tubulin, beta pseudogene 5 TUBBP5 Yes No Ensembl:ENSG00000159247, GeneCard:TUBBP5, HGNC:HGNC:23674, NCBI Gene:643224, RefSeq DNA:NG_002336, RefSeq DNA:NT_024000, RefSeq RNA:NR_027156 No chr9 141044565 141071885 138150113 138177433 +PA134909953 51174 HGNC:16811 ENSG00000108423 tubulin delta 1 TUBD1 tubulin, delta 1 FLJ12709, TUBD Yes No Comparative Toxicogenomics Database:51174, Ensembl:ENSG00000108423, GeneCard:TUBD1, HGNC:HGNC:16811, HumanCyc Gene:HS03102, ModBase:Q9UJT1, NCBI Gene:51174, OMIM:607344, RefSeq DNA:NT_010783, RefSeq Protein:NP_001180538, RefSeq Protein:NP_001180539, RefSeq Protein:NP_001180540, RefSeq Protein:NP_001180541, RefSeq Protein:NP_001180542, RefSeq Protein:NP_057345, RefSeq RNA:NM_001193609, RefSeq RNA:NM_001193610, RefSeq RNA:NM_001193611, RefSeq RNA:NM_001193612, RefSeq RNA:NM_001193613, RefSeq RNA:NM_016261, UniProtKB:B3KMV1, UniProtKB:Q9UJT1 No chr17 57936840 57970306 59859467 59892948 +PA134936770 51175 HGNC:20775 ENSG00000074935 tubulin epsilon 1 TUBE1 tubulin, epsilon 1 FLJ22589, TUBE, dJ142L7.2 Yes No Ensembl:ENSG00000074935, GeneCard:TUBE1, HGNC:HGNC:20775, HumanCyc Gene:HS01154, ModBase:Q9UJT0, NCBI Gene:51175, OMIM:607345, RefSeq DNA:NT_025741, RefSeq Protein:NP_057346, RefSeq RNA:NM_016262, UniProtKB:Q9UJT0 No chr6 112391860 112408751 112070657 112087548 +PA37079 7283 HGNC:12417 ENSG00000131462 tubulin gamma 1 TUBG1 tubulin, gamma 1 TUBG, TUBGCP1 Yes No Comparative Toxicogenomics Database:7283, Ensembl:ENSG00000131462, GenAtlas:TUBG1, GeneCard:TUBG1, HGNC:HGNC:12417, HumanCyc Gene:HS05530, ModBase:P23258, NCBI Gene:7283, OMIM:191135, RefSeq DNA:NT_010783, RefSeq Protein:NP_001061, RefSeq RNA:NM_001070, UCSC Genome Browser:NM_001070, UniProtKB:P23258 No chr17 40761358 40767256 42609340 42615238 +PA37080 442673 HGNC:12418 ENSG00000237972 tubulin, gamma 1 pseudogene TUBG1P Yes No Ensembl:ENSG00000237972, GenAtlas:TUBG1P, GeneCard:TUBG1P, HGNC:HGNC:12418, NCBI Gene:442673, RefSeq DNA:NG_009488, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 43958236 43959851 43918637 43920252 +PA37081 27175 HGNC:12419 ENSG00000037042 tubulin gamma 2 TUBG2 tubulin, gamma 2 Yes No Comparative Toxicogenomics Database:27175, Ensembl:ENSG00000037042, GenAtlas:TUBG2, GeneCard:TUBG2, HGNC:HGNC:12419, HumanCyc Gene:HS00521, ModBase:Q9NRH3, NCBI Gene:27175, OMIM:605785, RefSeq DNA:NT_010783, RefSeq Protein:NP_057521, RefSeq RNA:NM_016437, UCSC Genome Browser:NM_016437, UniProtKB:Q9NRH3 No chr17 40811266 40819024 42659248 42667006 +PA38598 10844 HGNC:18599 ENSG00000130640 tubulin gamma complex component 2 TUBGCP2 """spindle pole body protein Spc97 homolog"", ""tubulin gamma complex associated protein 2"", ""tubulin, gamma complex associated protein 2""" ALP4, GCP2, SPBC97, Spc97p, hGCP2 Yes No Ensembl:ENSG00000130640, GenAtlas:TUBGCP2, GeneCard:TUBGCP2, HGNC:HGNC:18599, HumanCyc Gene:HS05412, ModBase:Q9BSJ2, NCBI Gene:10844, RefSeq DNA:NT_008818, RefSeq Protein:NP_006650, RefSeq RNA:NM_006659, UCSC Genome Browser:NM_006659, UniProtKB:Q9BSJ2 No chr10 135092134 135125841 133278630 133312337 +PA38597 10426 HGNC:18598 ENSG00000126216 tubulin gamma complex component 3 TUBGCP3 """spindle pole body protein"", ""tubulin gamma complex associated protein 3"", ""tubulin, gamma complex associated protein 3""" GCP3, SPBC98, Spc98p Yes No Ensembl:ENSG00000126216, GenAtlas:TUBGCP3, GeneCard:TUBGCP3, HGNC:HGNC:18598, HumanCyc Gene:HS04998, ModBase:Q96CW5, NCBI Gene:10426, RefSeq DNA:NT_027140, RefSeq Protein:NP_006313, RefSeq RNA:NM_006322, UCSC Genome Browser:NM_006322, UniProtKB:Q5T8L2, UniProtKB:Q96CW5 No chr13 113139319 113242494 112485005 112606469 +PA162407404 27229 HGNC:16691 ENSG00000137822 tubulin gamma complex component 4 TUBGCP4 """gamma-ring complex protein 76 kDa"", ""gamma-tubulin complex protein 4"", ""tubulin gamma complex associated protein 4"", ""tubulin, gamma complex associated protein 4""" 76P, FLJ14797, GCP4 Yes No Ensembl:ENSG00000137822, GeneCard:TUBGCP4, HGNC:HGNC:16691, HumanCyc Gene:HS06404, NCBI Gene:27229, OMIM:609610, RefSeq DNA:NT_010194, RefSeq Protein:NP_055259, RefSeq RNA:NM_014444, UniProtKB:Q9UGJ1 No chr15 43663257 43698258 43371059 43409771 +PA38599 114791 HGNC:18600 ENSG00000275835 tubulin gamma complex component 5 TUBGCP5 """gamma-tubulin complex component GCP5"", ""tubulin gamma complex associated protein 5"", ""tubulin, gamma complex associated protein 5""" GCP5, KIAA1899 Yes No Ensembl:ENSG00000275835, GenAtlas:TUBGCP5, GeneCard:TUBGCP5, HGNC:HGNC:18600, HumanCyc Gene:HS07915, ModBase:Q96RT8, NCBI Gene:114791, OMIM:608147, RefSeq DNA:NT_078094, RefSeq Protein:NP_001096080, RefSeq Protein:NP_443135, RefSeq RNA:NM_001102610, RefSeq RNA:NM_052903, UCSC Genome Browser:NM_052903, UniProtKB:Q96RT8 No chr15 22833395 22873891 22982977 23039673 +PA38507 85378 HGNC:18127 ENSG00000128159 tubulin gamma complex component 6 TUBGCP6 """gamma-tubulin complex component 6"", ""tubulin gamma complex associated protein 6"", ""tubulin, gamma complex associated protein 6""" DJ402G11.6, GCP6, KIAA1669 Yes No Ensembl:ENSG00000128159, GenAtlas:TUBGCP6, GeneCard:TUBGCP6, HGNC:HGNC:18127, HumanCyc Gene:HS05158, ModBase:Q96RT7, NCBI Gene:85378, OMIM:610053, RefSeq DNA:NT_011526, RefSeq Protein:NP_065194, RefSeq RNA:NM_020461, UCSC Genome Browser:NM_020461, UniProtKB:Q96RT7 No chr22 50656118 50683453 50217689 50245024 +PA37082 7284 HGNC:12420 ENSG00000178952 Tu translation elongation factor, mitochondrial TUFM EF-TuMT, EFTU, EFTu Yes No Comparative Toxicogenomics Database:7284, Ensembl:ENSG00000178952, GenAtlas:TUFM, GeneCard:TUFM, HGNC:HGNC:12420, HumanCyc Gene:HS11333, ModBase:P49411, NCBI Gene:7284, OMIM:602389, OMIM:610678, RefSeq DNA:NG_008964, RefSeq DNA:NT_010393, RefSeq Protein:NP_003312, RefSeq RNA:NM_003321, UCSC Genome Browser:NM_003321, UniProtKB:P49411 No chr16 28853732 28857729 28842411 28859562 +PA37083 645668 HGNC:12421 ENSG00000265646 Tu translation elongation factor, mitochondrial pseudogene 1 TUFMP1 Yes No Ensembl:ENSG00000265646, GenAtlas:TUFML, GeneCard:TUFMP1, HGNC:HGNC:12421, NCBI Gene:645668, RefSeq DNA:NG_006578, RefSeq DNA:NT_010799 No chr17 25409518 25411149 27082492 27084123 +PA37084 7286 HGNC:12422 ENSG00000143367 tuftelin 1 TUFT1 Yes No Comparative Toxicogenomics Database:7286, Ensembl:ENSG00000143367, GenAtlas:TUFT1, GeneCard:TUFT1, HGNC:HGNC:12422, HumanCyc Gene:HS07036, ModBase:Q9NNX1, NCBI Gene:7286, OMIM:600087, RefSeq DNA:NT_004487, RefSeq Protein:NP_001119809, RefSeq Protein:NP_064512, RefSeq RNA:NM_001126337, RefSeq RNA:NM_020127, UCSC Genome Browser:NM_020127, UniProtKB:Q9NNX1 No chr1 151512781 151556059 151540294 151583583 +PA164727367 55000 HGNC:26066 ENSG00000253352 taurine up-regulated 1 TUG1 long intergenic non-protein coding RNA 80, non-protein coding RNA 80, taurine upregulated 1 (non-protein coding) FLJ20618, LINC00080, NCRNA00080 Yes No Ensembl:ENSG00000253352, GeneCard:TUG1, HGNC:HGNC:26066, NCBI Gene:55000, RefSeq DNA:NT_011520, RefSeq RNA:NR_002323 No chr22 31365634 31375381 30969211 30979395 +PA37085 7287 HGNC:12423 ENSG00000112041 TUB like protein 1 TULP1 tubby like protein 1 LCA15, RP14, TUBL1 Yes No Comparative Toxicogenomics Database:7287, Ensembl:ENSG00000112041, GenAtlas:TULP1, GeneCard:TULP1, HGNC:HGNC:12423, HumanCyc Gene:HS03503, ModBase:O00294, NCBI Gene:7287, OMIM:600132, OMIM:602280, RefSeq DNA:NG_009077, RefSeq DNA:NT_007592, RefSeq Protein:NP_003313, RefSeq RNA:NM_003322, UCSC Genome Browser:NM_003322, UniProtKB:O00294 No chr6 35465651 35480715 35497874 35512902 +PA37086 7288 HGNC:12424 ENSG00000104804 TUB like protein 2 TULP2 cancer/testis antigen 65, tubby like protein 2 CT65, TUBL2 Yes No Comparative Toxicogenomics Database:7288, Ensembl:ENSG00000104804, GenAtlas:TULP2, GeneCard:TULP2, HGNC:HGNC:12424, HumanCyc Gene:HS02619, ModBase:O00295, NCBI Gene:7288, OMIM:602309, RefSeq DNA:NT_011109, RefSeq Protein:NP_003314, RefSeq RNA:NM_003323, UCSC Genome Browser:NM_003323, UniProtKB:O00295 No chr19 49384222 49401996 48880817 48900177 +PA37087 7289 HGNC:12425 ENSG00000078246 TUB like protein 3 TULP3 tubby like protein 3 TUBL3 Yes No Comparative Toxicogenomics Database:7289, Ensembl:ENSG00000078246, GenAtlas:TULP3, GeneCard:TULP3, HGNC:HGNC:12425, HumanCyc Gene:HS01278, ModBase:O75386, NCBI Gene:7289, OMIM:604730, RefSeq DNA:NT_009759, RefSeq Protein:NP_001153880, RefSeq Protein:NP_003315, RefSeq RNA:NM_001160408, RefSeq RNA:NM_003324, UCSC Genome Browser:NM_003324, UniProtKB:O75386 No chr12 3000033 3050306 2890867 2941140 +PA134880863 56995 HGNC:15530 ENSG00000130338 TUB like protein 4 TULP4 tubby like protein 4 KIAA1397, TUSP Yes No Comparative Toxicogenomics Database:56995, Ensembl:ENSG00000130338, GeneCard:TULP4, HGNC:HGNC:15530, HumanCyc Gene:HS05372, ModBase:Q9NRJ4, NCBI Gene:56995, RefSeq DNA:NT_025741, RefSeq Protein:NP_001007467, RefSeq Protein:NP_064630, RefSeq RNA:NM_001007466, RefSeq RNA:NM_020245, UniProtKB:Q9NRJ4 No chr6 158653268 158932860 158232192 158511828 +PA134889281 286319 HGNC:31010 ENSG00000198680 tumor suppressor candidate 1 TUSC1 CCDC89B, TSG-9 Yes No Ensembl:ENSG00000198680, GeneCard:TUSC1, HGNC:HGNC:31010, NCBI Gene:286319, OMIM:610529, RefSeq DNA:NG_012031, RefSeq DNA:NT_008413, RefSeq Protein:NP_001004125, RefSeq RNA:NM_001004125, UniProtKB:Q2TAM9 No chr9 25676387 25678856 25676389 25678858 +PA134968273 11334 HGNC:17034 ENSG00000114383 tumor suppressor 2, mitochondrial calcium regulator TUSC2 tumor suppressor candidate 2 C3orf11, FUS1, PAP, PDAP2 Yes No Comparative Toxicogenomics Database:11334, Ensembl:ENSG00000114383, GeneCard:TUSC2, HGNC:HGNC:17034, HumanCyc Gene:HS03764, NCBI Gene:11334, OMIM:607052, RefSeq DNA:NT_022517, RefSeq Protein:NP_009206, RefSeq RNA:NM_007275, UniProtKB:O75896 No chr3 50362341 50365668 50324909 50328238 +PA128394537 7991 HGNC:30242 ENSG00000104723 tumor suppressor candidate 3 TUSC3 Magnesium uptake/transporter TUSC3, oligosaccharyltransferase 3 homolog A (S. cerevisiae) MGC13453, MRT22, MRT7, MagT2, N33, OST3A, SLC58A2 Yes No Comparative Toxicogenomics Database:7991, Ensembl:ENSG00000104723, GeneCard:TUSC3, HGNC:HGNC:30242, HumanCyc Gene:HS02607, ModBase:Q13454, NCBI Gene:7991, OMIM:176807, OMIM:601385, OMIM:611093, RefSeq DNA:NG_012141, RefSeq DNA:NT_167187, RefSeq Protein:NP_006756, RefSeq Protein:NP_839952, RefSeq RNA:NM_006765, RefSeq RNA:NM_178234, UCSC Genome Browser:NM_006765, UniProtKB:Q13454 No chr8 15397596 15624158 15540087 15766649 +PA162407405 64852 HGNC:26184 ENSG00000149016 terminal uridylyl transferase 1, U6 snRNA-specific TUT1 RNA uridylyltransferase, TUTase 6, U6 TUTase FLJ21850, FLJ22267, FLJ22347, PAPD2, RBM21, TENT1, TUTase Yes No Ensembl:ENSG00000149016, GeneCard:TUT1, HGNC:HGNC:26184, HumanCyc Gene:HS07577, ModBase:Q9H6E5, NCBI Gene:64852, OMIM:610641, RefSeq DNA:NT_167190, RefSeq Protein:NP_073741, RefSeq RNA:NM_022830, UniProtKB:A8K995 No chr11 62341431 62359109 62575045 62591637 +PA134918178 23318 HGNC:28981 ENSG00000134744 terminal uridylyl transferase 4 TUT4 """TUTase4"", ""zinc finger, CCHC domain containing 11""" KIAA0191, PAPD3, TENT3A, TUT4, ZCCHC11 Yes No Comparative Toxicogenomics Database:23318, Ensembl:ENSG00000134744, GeneCard:ZCCHC11, HGNC:HGNC:28981, ModBase:Q5TAX3, NCBI Gene:23318, RefSeq DNA:NT_032977, RefSeq Protein:NP_001009881, RefSeq Protein:NP_001009882, RefSeq Protein:NP_056084, RefSeq RNA:NM_001009881, RefSeq RNA:NM_001009882, RefSeq RNA:NM_015269, UniProtKB:Q5TAX3 No chr1 52888947 53018764 52423275 52553463 +PA134971144 79670 HGNC:25817 ENSG00000083223 terminal uridylyl transferase 7 TUT7 """TUTase7"", ""zinc finger, CCHC domain containing 6""" FLJ13409, KIAA1711, PAPD6, TENT3B, TUT7, ZCCHC6 Yes Yes Ensembl:ENSG00000083223, GeneCard:ZCCHC6, HGNC:HGNC:25817, HumanCyc Gene:HS01436, ModBase:Q96N57, NCBI Gene:79670, RefSeq DNA:NT_008470, RefSeq Protein:NP_001171988, RefSeq Protein:NP_001172003, RefSeq Protein:NP_078893, RefSeq RNA:NM_001185059, RefSeq RNA:NM_001185074, RefSeq RNA:NM_024617, UniProtKB:Q5VYS8 No chr9 88902648 88969402 86287733 86354497 +PA134902394 780776 HGNC:20398 ENSG00000166676 trans-golgi network vesicle protein 23 homolog A TVP23A trans-golgi network vesicle protein 23 homolog A (S. cerevisiae) FAM18A, YDR084C Yes No Ensembl:ENSG00000166676, GeneCard:FAM18A, HGNC:HGNC:20398, NCBI Gene:780776, RefSeq DNA:NT_010393, RefSeq Protein:NP_001072980, RefSeq RNA:NM_001079512, UniProtKB:A6NH52 No chr16 10855221 10912651 10758034 10818902 +PA134871046 51030 HGNC:20399 ENSG00000171928 trans-golgi network vesicle protein 23 homolog B TVP23B trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) CGI-148, FAM18B, FAM18B1, YDR084C Yes No Ensembl:ENSG00000171928, GeneCard:FAM18B, HGNC:HGNC:20399, HumanCyc Gene:HS16040, NCBI Gene:51030, RefSeq DNA:NT_010718, RefSeq Protein:NP_057162, RefSeq RNA:NM_016078, UniProtKB:Q9NYZ1 No chr17 18684458 18710027 18780995 18806713 +PA142671894 201158 HGNC:30453 ENSG00000175106 trans-golgi network vesicle protein 23 homolog C TVP23C trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) FAM18B2, MGC8763 Yes No Ensembl:ENSG00000175106, GeneCard:FAM18B2, HGNC:HGNC:30453, HumanCyc Gene:HS12672, NCBI Gene:201158, RefSeq DNA:NT_010718, RefSeq Protein:NP_001128508, RefSeq Protein:NP_660344, RefSeq RNA:NM_001135036, RefSeq RNA:NM_145301, UniProtKB:C9J6R6, UniProtKB:Q96ET8 No chr17 15405578 15466945 15502264 15563631 +PA162407406 5756 HGNC:9620 ENSG00000151239 twinfilin actin binding protein 1 TWF1 twinfilin actin-binding protein 1 A6, PTK9 Yes No Ensembl:ENSG00000151239, GeneCard:TWF1, HGNC:HGNC:9620, HumanCyc Gene:HS07717, ModBase:Q8TCD3, NCBI Gene:5756, OMIM:610932, RefSeq DNA:NT_029419, RefSeq Protein:NP_001229326, RefSeq Protein:NP_002813, RefSeq RNA:NM_001242397, RefSeq RNA:NM_002822, UniProtKB:Q12792 No chr12 44187526 44200178 43793723 43806375 +PA134939474 494555 HGNC:21737 ENSG00000225008 twinfilin 1 pseudogene 2 TWF1P2 A6ps2 Yes No Ensembl:ENSG00000225008, HGNC:HGNC:21737, NCBI Gene:494555 No chrX 154517465 154520710 155288174 155291419 +PA162407429 11344 HGNC:9621 ENSG00000247596 twinfilin actin binding protein 2 TWF2 twinfilin actin-binding protein 2 A6RP, A6r, PTK9L Yes No Ensembl:ENSG00000247596, GeneCard:TWF2, HGNC:HGNC:9621, HumanCyc Gene:HS09713, ModBase:Q6IBS0, NCBI Gene:11344, OMIM:607433, RefSeq DNA:NT_022517, RefSeq Protein:NP_009215, RefSeq RNA:NM_007284, UniProtKB:Q6IBS0 No chr3 52262626 52273183 52228610 52239167 +PA37088 7291 HGNC:12428 ENSG00000122691 twist family bHLH transcription factor 1 TWIST1 Saethre-Chotzen syndrome, twist basic helix-loop-helix transcription factor 1 ACS3, BPES2, BPES3, CRS, CRS1, H-twist, SCS, TWIST, bHLHa38 Yes No Comparative Toxicogenomics Database:7291, Ensembl:ENSG00000122691, GeneCard:TWIST1, HGNC:HGNC:12428, HumanCyc Gene:HS04590, ModBase:Q15672, NCBI Gene:7291, OMIM:101400, OMIM:123100, OMIM:601622, RefSeq DNA:NG_008114, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_000465, RefSeq RNA:NM_000474, UCSC Genome Browser:NM_000474, UniProtKB:Q15672 No chr7 19039315 19157295 19113047 19117672 +PA134973713 117581 HGNC:20670 ENSG00000233608 twist family bHLH transcription factor 2 TWIST2 twist basic helix-loop-helix transcription factor 2 DERMO1, Dermo-1, bHLHa39 Yes No Comparative Toxicogenomics Database:117581, Ensembl:ENSG00000233608, GeneCard:TWIST2, HGNC:HGNC:20670, ModBase:Q8WVJ9, NCBI Gene:117581, OMIM:607556, RefSeq DNA:NT_005120, RefSeq Protein:NP_476527, RefSeq RNA:NM_057179, UniProtKB:Q8WVJ9 No chr2 +PA162377675 56652 HGNC:1160 ENSG00000107815 twinkle mtDNA helicase TWNK T7 helicase-related protein with intramitochondrial nucleoid localization, TWINKLE, chromosome 10 open reading frame 2 C10orf2, FLJ21832, IOSCA, PEO, PEO1, TWINL, twinkle Yes No Ensembl:ENSG00000107815, GeneCard:C10orf2, HGNC:HGNC:1160, HumanCyc Gene:HS03029, ModBase:Q96RR1, NCBI Gene:56652, OMIM:251880, OMIM:271245, OMIM:606075, OMIM:607459, OMIM:609286, RefSeq DNA:NG_012624, RefSeq DNA:NT_030059, RefSeq Protein:NP_001157284, RefSeq Protein:NP_001157285, RefSeq Protein:NP_001157286, RefSeq Protein:NP_068602, RefSeq RNA:NM_001163812, RefSeq RNA:NM_001163813, RefSeq RNA:NM_001163814, RefSeq RNA:NM_021830, UniProtKB:Q96RR1, UniProtKB:Q9H6V3 No chr10 102747293 102754159 100987527 100994403 +PA37089 57045 HGNC:12429 ENSG00000128791 twisted gastrulation BMP signaling modulator 1 TWSG1 twisted gastrulation homolog 1 (Drosophila) TSG Yes No Ensembl:ENSG00000128791, GenAtlas:TWSG1, GeneCard:TWSG1, HGNC:HGNC:12429, HumanCyc Gene:HS05223, ModBase:Q9GZX9, NCBI Gene:57045, OMIM:605049, RefSeq DNA:NT_010859, RefSeq Protein:NP_065699, RefSeq RNA:NM_020648, UCSC Genome Browser:NM_020648, UniProtKB:Q9GZX9 No chr18 9334765 9402424 9334767 9402420 +PA37090 7294 HGNC:12434 ENSG00000074966 TXK tyrosine kinase TXK BTKL, PSCTK5, PTK4, RLK, TKL Yes No Ensembl:ENSG00000074966, GenAtlas:TXK, GeneCard:TXK, HGNC:HGNC:12434, HumanCyc Gene:HS01155, ModBase:P42681, NCBI Gene:7294, OMIM:600058, RefSeq DNA:NT_006238, RefSeq Protein:NP_003319, RefSeq RNA:NM_003328, UCSC Genome Browser:NM_003328, UniProtKB:P42681 No chr4 48068410 48136273 48066393 48135322 +PA142670668 200081 HGNC:30685 ENSG00000084652 taxilin alpha TXLNA interleukin 14 DKFZp451J0118, IL-14, IL14 Yes No Comparative Toxicogenomics Database:200081, Ensembl:ENSG00000084652, GeneCard:TXLNA, HGNC:HGNC:30685, ModBase:Q8N2Y3, NCBI Gene:200081, OMIM:608676, RefSeq DNA:NT_032977, RefSeq Protein:NP_787048, RefSeq RNA:NM_175852, UniProtKB:P40222 No chr1 32645293 32663886 32179669 32198285 +PA134878600 167838 HGNC:21617 ENSG00000164440 taxilin beta TXLNB C6orf198, DKFZp451A175, MDP77, dJ522B19.2 Yes Yes Comparative Toxicogenomics Database:167838, Ensembl:ENSG00000164440, GeneCard:TXLNB, HGNC:HGNC:21617, ModBase:Q8N3L3, NCBI Gene:167838, OMIM:611438, RefSeq DNA:NT_025741, RefSeq Protein:NP_694967, RefSeq RNA:NM_153235, UniProtKB:Q8N3L3 No chr6 139561198 139645148 139159160 139324011 +PA38588 55787 HGNC:18578 ENSG00000086712 taxilin gamma TXLNG factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription, lipopolysaccharide specific response-5 protein CXorf15, FIAT, FLJ11209, LSR5, MGC126621, MGC126625, TXLNGX Yes No Ensembl:ENSG00000086712, GenAtlas:CXorf15, GeneCard:CXorf15, GeneCard:TXLNG, HGNC:HGNC:18578, HumanCyc Gene:HS12290, ModBase:Q9NUQ3, NCBI Gene:55787, OMIM:300677, RefSeq DNA:NG_016267, RefSeq DNA:NT_011757, RefSeq DNA:NT_167197, RefSeq Protein:NP_001162154, RefSeq Protein:NP_060830, RefSeq RNA:NM_001168683, RefSeq RNA:NM_018360, UCSC Genome Browser:NM_018360, UniProtKB:Q9NUQ3 No chrX 16804555 16862642 16786432 16844519 +PA37091 7295 HGNC:12435 ENSG00000136810 thioredoxin TXN TRX, TXN1, Trx80 Yes No Comparative Toxicogenomics Database:7295, Ensembl:ENSG00000136810, GenAtlas:TXN, GeneCard:TXN, HGNC:HGNC:12435, HumanCyc Gene:HS06214, ModBase:P10599, NCBI Gene:7295, OMIM:187700, RefSeq DNA:NT_008470, RefSeq Protein:NP_003320, RefSeq RNA:NM_003329, UCSC Genome Browser:NM_003329, UniProtKB:P10599 No chr9 113006092 113018920 110243812 110256640 +PA38245 25828 HGNC:17772 ENSG00000100348 thioredoxin 2 TXN2 MT-TRX Yes No Comparative Toxicogenomics Database:25828, Ensembl:ENSG00000100348, GenAtlas:TXN2, GeneCard:TXN2, HGNC:HGNC:17772, HumanCyc Gene:HS02054, ModBase:Q99757, NCBI Gene:25828, OMIM:609063, RefSeq DNA:NT_011520, RefSeq Protein:NP_036605, RefSeq RNA:NM_012473, UCSC Genome Browser:NM_012473, UniProtKB:Q99757 No chr22 36863083 36878072 36467036 36482025 +PA134915251 51061 HGNC:28030 ENSG00000153066 thioredoxin domain containing 11 TXNDC11 EF-hand binding protein 1 EFP1 Yes Yes Comparative Toxicogenomics Database:51061, Ensembl:ENSG00000153066, GeneCard:TXNDC11, HGNC:HGNC:28030, HumanCyc Gene:HS07879, ModBase:Q6PKC3, NCBI Gene:51061, RefSeq DNA:NT_010393, RefSeq Protein:NP_056998, RefSeq RNA:NM_015914, UniProtKB:Q6PKC3 No chr16 11772939 11836707 11679080 11742878 +PA142670665 51060 HGNC:24626 ENSG00000117862 thioredoxin domain containing 12 TXNDC12 """anterior gradient homolog 1 (Xenopus laevis)"", ""endoplasmic reticulum thioredoxin superfamily member, 18 kDa"", ""protein disulfide isomerase family A, member 16"", ""thioredoxin domain containing 12 (endoplasmic reticulum)""" AGR1, ERP18, ERP19, PDIA16, TLP19, hAG-1 Yes No Ensembl:ENSG00000117862, GeneCard:TXNDC12, HGNC:HGNC:24626, HumanCyc Gene:HS04176, ModBase:O95881, NCBI Gene:51060, OMIM:609448, RefSeq DNA:NT_032977, RefSeq Protein:NP_056997, RefSeq RNA:NM_015913, UniProtKB:O95881 No chr1 52485803 52521843 52020131 52056171 +PA162407473 79770 HGNC:20652 ENSG00000113621 thioredoxin domain containing 15 TXNDC15 2310047H23Rik, C5orf14, FLJ22625 Yes No Ensembl:ENSG00000113621, GeneCard:TXNDC15, HGNC:HGNC:20652, HumanCyc Gene:HS03703, ModBase:Q96J42, NCBI Gene:79770, RefSeq DNA:NT_034772, RefSeq Protein:NP_078991, RefSeq RNA:NM_024715, UniProtKB:Q7Z345, UniProtKB:Q96J42 No chr5 134209427 134237323 134873770 134901633 +PA162407488 57544 HGNC:19965 ENSG00000087301 thioredoxin domain containing 16 TXNDC16 KIAA1344 Yes No Ensembl:ENSG00000087301, GeneCard:TXNDC16, HGNC:HGNC:19965, NCBI Gene:57544, RefSeq DNA:NT_026437, RefSeq Protein:NP_001153519, RefSeq Protein:NP_065835, RefSeq RNA:NM_001160047, RefSeq RNA:NM_020784, UniProtKB:B7ZME4, UniProtKB:Q9P2K2 No chr14 52897308 53019301 52430590 52552583 +PA162407489 84817 HGNC:28218 ENSG00000129235 thioredoxin domain containing 17 TXNDC17 thioredoxin (Trx)-related protein, 14 kDa MGC14353, TRP14, TXNL5 Yes No Ensembl:ENSG00000129235, GeneCard:TXNDC17, HGNC:HGNC:28218, HumanCyc Gene:HS05259, ModBase:Q9BRA2, NCBI Gene:84817, RefSeq DNA:NT_010718, RefSeq Protein:NP_116120, RefSeq RNA:NM_032731, UniProtKB:Q9BRA2 No chr17 6544222 6547861 6640902 6644541 +PA38147 84203 HGNC:16470 ENSG00000168454 thioredoxin domain containing 2 TXNDC2 sperm-specific thioredoxin 1, thioredoxin domain containing 2 (spermatozoa) SPTRX1 Yes No Ensembl:ENSG00000168454, GenAtlas:TXNDC2, GeneCard:TXNDC2, HGNC:HGNC:16470, HumanCyc Gene:HS09765, ModBase:Q86VQ3, NCBI Gene:84203, RefSeq DNA:NT_010859, RefSeq Protein:NP_001091999, RefSeq Protein:NP_001092000, RefSeq Protein:NP_115619, RefSeq RNA:NM_001098529, RefSeq RNA:NM_001098530, RefSeq RNA:NM_032243, UCSC Genome Browser:NM_032243, UniProtKB:Q86VQ3 No chr18 9885723 9889272 9885726 9889158 +PA134992492 81567 HGNC:21073 ENSG00000239264 thioredoxin domain containing 5 TXNDC5 """protein disulfide isomerase family A, member 15"", ""thioredoxin domain containing 5 (endoplasmic reticulum)""" ERp46, EndoPDI, FLJ21353, FLJ90810, Hcc-2, MGC3178, PDIA15 Yes No Comparative Toxicogenomics Database:81567, Ensembl:ENSG00000239264, GeneCard:TXNDC5, HGNC:HGNC:21073, ModBase:Q8NBS9, NCBI Gene:81567, RefSeq DNA:NT_007592, RefSeq Protein:NP_001139021, RefSeq Protein:NP_110437, RefSeq RNA:NM_001145549, RefSeq RNA:NM_030810, UniProtKB:B2RDM2, UniProtKB:Q658S9, UniProtKB:Q8NBS9 No chr6 7881483 7911047 7881250 7910814 +PA134935003 255220 HGNC:31454 ENSG00000204193 thioredoxin domain containing 8 TXNDC8 sperm-specific thioredoxin 3, thioredoxin domain containing 8 (spermatozoa) SPTRX-3, TRX6, bA427L11.2 Yes No Ensembl:ENSG00000204193, GeneCard:TXNDC8, HGNC:HGNC:31454, NCBI Gene:255220, RefSeq DNA:NT_008470, RefSeq Protein:NP_001003936, RefSeq RNA:NM_001003936, UniProtKB:Q6A555 No chr9 113065762 113100163 110300900 110337887 +PA134957934 10190 HGNC:24110 ENSG00000115514 thioredoxin domain containing 9 TXNDC9 APACD Yes No Comparative Toxicogenomics Database:10190, Ensembl:ENSG00000115514, GeneCard:TXNDC9, HGNC:HGNC:24110, HumanCyc Gene:HS03900, ModBase:O14530, NCBI Gene:10190, OMIM:612564, RefSeq DNA:NT_022171, RefSeq Protein:NP_005774, RefSeq RNA:NM_005783, UniProtKB:O14530 No chr2 99935487 99957155 99306184 99336397 +PA38194 10628 HGNC:16952 ENSG00000265972 thioredoxin interacting protein TXNIP """thioredoxin binding protein 2"", ""upregulated by 1,25-dihydroxyvitamin D-3""" ARRDC6, EST01027, HHCPA78, THIF, VDUP1 Yes No Comparative Toxicogenomics Database:10628, Ensembl:ENSG00000265972, GenAtlas:TXNIP, GeneCard:TXNIP, HGNC:HGNC:16952, HumanCyc Gene:HS04114, ModBase:Q9H3M7, NCBI Gene:10628, OMIM:606599, RefSeq DNA:NT_167185, RefSeq Protein:NP_006463, RefSeq RNA:NM_006472, UCSC Genome Browser:NM_006472, UniProtKB:Q9H3M7 No chr1 145438438 145442635 145992426 145996631 +PA134967488 9352 HGNC:12436 ENSG00000091164 thioredoxin like 1 TXNL1 """thioredoxin-like 1"", ""thioredoxin-like, 32kD""" TRP32, TXNL, Txl Yes No Comparative Toxicogenomics Database:9352, Ensembl:ENSG00000091164, GenAtlas:TXNL1, GeneCard:TXNL1, HGNC:HGNC:12436, HumanCyc Gene:HS01728, ModBase:O43396, NCBI Gene:9352, OMIM:603049, RefSeq DNA:NT_025028, RefSeq Protein:NP_004777, RefSeq RNA:NM_004786, RefSeq RNA:NR_024546, UCSC Genome Browser:NM_004786, UniProtKB:O43396 No chr18 54270053 54305920 56602822 56651276 +PA134937290 10907 HGNC:30551 ENSG00000141759 thioredoxin like 4A TXNL4A similar to S. pombe dim1+, thioredoxin-like 4A DIB1, DIM1, HsT161, SNRNP15, TXNL4, U5-15kD Yes No Comparative Toxicogenomics Database:10907, Ensembl:ENSG00000141759, GeneCard:TXNL4A, HGNC:HGNC:30551, HumanCyc Gene:HS06871, ModBase:P83876, NCBI Gene:10907, OMIM:611595, RefSeq DNA:NT_025028, RefSeq Protein:NP_006692, RefSeq RNA:NM_006701, UniProtKB:P83876 No chr18 77732867 77748546 79972867 80033935 +PA134944912 54957 HGNC:26041 ENSG00000140830 thioredoxin like 4B TXNL4B thioredoxin-like 4B DLP, Dim2, FLJ20511 Yes No Comparative Toxicogenomics Database:54957, Ensembl:ENSG00000140830, GeneCard:TXNL4B, HGNC:HGNC:26041, HumanCyc Gene:HS06763, ModBase:Q9NX01, NCBI Gene:54957, RefSeq DNA:NT_010498, RefSeq Protein:NP_001135789, RefSeq Protein:NP_001135790, RefSeq Protein:NP_060323, RefSeq RNA:NM_001142317, RefSeq RNA:NM_001142318, RefSeq RNA:NM_017853, UniProtKB:Q9NX01 No chr16 72118756 72128215 72044261 72094316 +PA37093 7296 HGNC:12437 ENSG00000198431 thioredoxin reductase 1 TXNRD1 selenoprotein TXNRD1 GRIM-12, TXNR, TXNR1, Trxr1 Yes No Comparative Toxicogenomics Database:7296, Ensembl:ENSG00000198431, GenAtlas:TXNRD1, GeneCard:TXNRD1, HGNC:HGNC:12437, HumanCyc Gene:HS06102, NCBI Gene:7296, OMIM:601112, RefSeq DNA:NT_029419, RefSeq Protein:NP_001087240, RefSeq Protein:NP_003321, RefSeq Protein:NP_877393, RefSeq Protein:NP_877419, RefSeq Protein:NP_877420, RefSeq RNA:NM_001093771, RefSeq RNA:NM_003330, RefSeq RNA:NM_182729, RefSeq RNA:NM_182742, RefSeq RNA:NM_182743, UCSC Genome Browser:NM_003330, UniProtKB:Q16881 No chr12 104609537 104744085 104215779 104350307 +PA38302 10587 HGNC:18155 ENSG00000184470 thioredoxin reductase 2 TXNRD2 selenoprotein Z, thioredoxin reductase beta SELZ, TR, TR3, TRXR2, TXNR2 Yes Yes Comparative Toxicogenomics Database:10587, Ensembl:ENSG00000184470, GenAtlas:TXNRD2, GeneCard:TXNRD2, HGNC:HGNC:18155, HumanCyc Gene:HS00001, ModBase:Q9UQU8, NCBI Gene:10587, OMIM:606448, RefSeq DNA:NG_011835, RefSeq DNA:NT_011519, RefSeq Protein:NP_006431, RefSeq RNA:NM_006440, UCSC Genome Browser:NM_006440, UniProtKB:Q9NNW7 No chr22 19863040 19929359 19875518 19941992 +PA134920642 114112 HGNC:20667 ENSG00000197763 thioredoxin reductase 3 TXNRD3 selenoprotein TXNRD3, thioredoxin glutathione reductase TGR, TR2, TR2IT1, TRXR3, TXNR3, TXNRD3IT1, TXNRD3NB, TXNRD3NT1 Yes No Comparative Toxicogenomics Database:114112, Ensembl:ENSG00000197763, GeneCard:TXNRD3, HGNC:HGNC:20667, HumanCyc Gene:HS11915, NCBI Gene:114112, OMIM:606235, RefSeq DNA:NT_005612, RefSeq Protein:NP_001166984, RefSeq Protein:NP_443115, RefSeq Protein:XP_001129642, RefSeq Protein:XP_001130163, RefSeq RNA:NM_001173513, RefSeq RNA:NM_052883, RefSeq RNA:XM_001129642, RefSeq RNA:XM_001130163, UniProtKB:B4DRZ5, UniProtKB:Q86VQ6 No chr3 126325895 126375056 126607052 126655124 +PA37094 7297 HGNC:12440 ENSG00000105397 tyrosine kinase 2 TYK2 JTK1 Yes No Comparative Toxicogenomics Database:7297, Ensembl:ENSG00000105397, GenAtlas:TYK2, GeneCard:TYK2, HGNC:HGNC:12440, HumanCyc Gene:HS02731, ModBase:P29597, NCBI Gene:7297, OMIM:176941, OMIM:611521, RefSeq DNA:NG_007872, RefSeq DNA:NT_011295, RefSeq Protein:NP_003322, RefSeq RNA:NM_003331, UCSC Genome Browser:NM_003331, UniProtKB:P29597 No chr19 10461204 10491248 10350528 10380572 +PA162407502 1890 HGNC:3148 ENSG00000025708 thymidine phosphorylase TYMP gliostatin ECGF1, MNGIE Yes Yes Comparative Toxicogenomics Database:1890, Ensembl:ENSG00000025708, GenAtlas:ECGF1, GeneCard:ECGF1, GeneCard:TYMP, HGNC:HGNC:3148, HumanCyc Gene:HS00442, NCBI Gene:1890, OMIM:131222, OMIM:603041, RefSeq DNA:NG_011860, RefSeq DNA:NT_011526, RefSeq Protein:NP_001107227, RefSeq Protein:NP_001107228, RefSeq Protein:NP_001944, RefSeq RNA:NM_001113755, RefSeq RNA:NM_001113756, RefSeq RNA:NM_001953, UCSC Genome Browser:NM_001953, UniProtKB:B2RBL3, UniProtKB:P19971 No chr22 50964181 50968514 50525752 50530085 +PA359 7298 HGNC:12441 ENSG00000176890 thymidylate synthetase TYMS HsT422, TMS, TS, Tsase Yes Yes Comparative Toxicogenomics Database:7298, Ensembl:ENSG00000176890, GenAtlas:TYMS, GeneCard:TYMS, HGNC:HGNC:12441, HumanCyc Gene:HS11096, ModBase:P04818, NCBI Gene:7298, OMIM:188350, RefSeq DNA:NT_010859, RefSeq Protein:NP_001062, RefSeq RNA:NM_001071, UCSC Genome Browser:NM_001071, UniProtKB:P04818, UniProtKB:Q53Y97 No chr18 657590 673499 657604 673499 +PA37095 7299 HGNC:12442 ENSG00000077498 tyrosinase TYR oculocutaneous albinism IA OCA1, OCA1A, OCAIA Yes No Comparative Toxicogenomics Database:7299, Ensembl:ENSG00000077498, GenAtlas:TYR, GeneCard:TYR, HGNC:HGNC:12442, HumanCyc Gene:HS01248, ModBase:P14679, NCBI Gene:7299, OMIM:103470, OMIM:203100, OMIM:601800, OMIM:606933, OMIM:606952, RefSeq DNA:NG_008748, RefSeq DNA:NT_167190, RefSeq Protein:NP_000363, RefSeq RNA:NM_000372, UCSC Genome Browser:NM_000372, UniProtKB:P14679 No chr11 88911040 89028927 89177565 89295759 +PA37096 7300 HGNC:12443 ENSG00000123447 tyrosinase-like (pseudogene) TYRL Yes No Ensembl:ENSG00000123447, GenAtlas:TYRL, GeneCard:TYRL, HGNC:HGNC:12443, NCBI Gene:7300, OMIM:191270, RefSeq DNA:NG_001529, RefSeq DNA:NT_009237 No chr11 49426244 49437306 49404692 49415754 +PA37097 7301 HGNC:12446 ENSG00000092445 TYRO3 protein tyrosine kinase TYRO3 Brt, Dtk, Etk-2, RSE, Rek, Sky, Tif Yes No Comparative Toxicogenomics Database:7301, Ensembl:ENSG00000092445, GenAtlas:TYRO3, GeneCard:TYRO3, HGNC:HGNC:12446, HumanCyc Gene:HS01772, ModBase:Q06418, NCBI Gene:7301, OMIM:600341, RefSeq DNA:NT_010194, RefSeq Protein:NP_006284, RefSeq RNA:NM_006293, UCSC Genome Browser:NM_006293, UniProtKB:Q06418 No chr15 41851220 41871536 41559022 41579338 +PA37098 7302 HGNC:12447 ENSG00000259581 TYRO3P protein tyrosine kinase pseudogene TYRO3P Yes No Ensembl:ENSG00000259581, GenAtlas:TYRO3P, GeneCard:TYRO3P, HGNC:HGNC:12447, NCBI Gene:7302, RefSeq DNA:NG_007058, RefSeq DNA:NT_010194, RefSeq RNA:NR_028510 No chr15 76551630 76552493 76259289 76260152 +PA37100 7305 HGNC:12449 ENSG00000011600 transmembrane immune signaling adaptor TYROBP TYROBP DNAX adaptor protein 12, DNAX-activation protein 12, TYRO protein tyrosine kinase binding protein, killer activating receptor associated protein DAP12, KARAP, PLO-SL, PLOSL Yes No Comparative Toxicogenomics Database:7305, Ensembl:ENSG00000011600, GenAtlas:TYROBP, GeneCard:TYROBP, HGNC:HGNC:12449, HumanCyc Gene:HS00324, NCBI Gene:7305, OMIM:221770, OMIM:604142, RefSeq DNA:NG_009304, RefSeq DNA:NT_011109, RefSeq Protein:NP_001166985, RefSeq Protein:NP_001166986, RefSeq Protein:NP_003323, RefSeq Protein:NP_937758, RefSeq RNA:NM_001173514, RefSeq RNA:NM_001173515, RefSeq RNA:NM_003332, RefSeq RNA:NM_198125, RefSeq RNA:NR_033390, UCSC Genome Browser:NM_003332, UniProtKB:O43914 No chr19 36395303 36399211 35904401 35908309 +PA37101 7306 HGNC:12450 ENSG00000107165 tyrosinase related protein 1 TYRP1 tyrosinase-related protein 1 CAS2, CATB, GP75, OCA3, TRP, TYRP, b-PROTEIN Yes No Comparative Toxicogenomics Database:7306, Ensembl:ENSG00000107165, GenAtlas:TYRP1, GeneCard:TYRP1, HGNC:HGNC:12450, HumanCyc Gene:HS02976, ModBase:P17643, NCBI Gene:7306, OMIM:115501, OMIM:203290, OMIM:278400, RefSeq DNA:NG_011705, RefSeq DNA:NT_008413, RefSeq Protein:NP_000541, RefSeq RNA:NM_000550, UCSC Genome Browser:NM_000550, UniProtKB:P17643 No chr9 12693385 12710285 12693385 12710266 +PA134968651 219743 HGNC:28531 ENSG00000156521 trypsin like peroxisomal matrix peptidase 1 TYSND1 peroxisomal cysteine endopeptidase, peroxisomal matrix protein–processing protease, peroxisome leader peptide-processing protease, trypsin domain containing 1 MGC34695, NET41 Yes No Comparative Toxicogenomics Database:219743, Ensembl:ENSG00000156521, GeneCard:TYSND1, HGNC:HGNC:28531, ModBase:Q2T9J0, NCBI Gene:219743, OMIM:611017, RefSeq DNA:NT_030059, RefSeq Protein:NP_001035363, RefSeq Protein:NP_775826, RefSeq RNA:NM_001040273, RefSeq RNA:NM_173555, UniProtKB:Q2T9J0 No chr10 71897737 71906496 70137981 70146740 +PA134940167 55253 HGNC:25598 ENSG00000198874 tRNA-yW synthesizing protein 1 homolog TYW1 tRNA-yW synthesizing protein 1 homolog (S. cerevisiae), tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae) FLJ10900, MGC23001, MGC60291, RSAFD1, TYW1A, YPL207W Yes No Comparative Toxicogenomics Database:55253, Ensembl:ENSG00000198874, GeneCard:TYW1, HGNC:HGNC:25598, ModBase:Q9NV66, NCBI Gene:55253, OMIM:611243, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_060734, RefSeq RNA:NM_018264, UniProtKB:Q9NV66 No chr7 66461792 66704507 66996805 67239520 +PA164727375 441250 HGNC:33908 ENSG00000277149 tRNA-yW synthesizing protein 1 homolog B TYW1B long intergenic non-protein coding RNA 69, non-protein coding RNA 69, radical S-adenosyl methionine and flavodoxin domains 1, tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) LINC00069, MGC87315, NCRNA00069, RSAFD2 Yes No Ensembl:ENSG00000277149, GeneCard:TYW1B, HGNC:HGNC:33908, NCBI Gene:441250, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001138912, RefSeq Protein:NP_001138913, RefSeq RNA:NM_001145440, RefSeq RNA:NM_001145441, UniProtKB:Q6NUM6 No chr7 72023729 72298813 72574507 72828234 +PA142672420 127253 HGNC:24757 ENSG00000162623 tRNA-yW synthesizing protein 3 homolog TYW3 tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) C1orf171, FLJ40918 Yes No Ensembl:ENSG00000162623, GeneCard:TYW3, HGNC:HGNC:24757, ModBase:Q6IPR3, NCBI Gene:127253, OMIM:611245, RefSeq DNA:NT_032977, RefSeq Protein:NP_001156388, RefSeq Protein:NP_612476, RefSeq RNA:NM_001162916, RefSeq RNA:NM_138467, RefSeq RNA:NR_027962, UniProtKB:B4DSP9, UniProtKB:Q6IPR3 No chr1 75198836 75232361 74733143 74766677 +PA162379298 129450 HGNC:26754 ENSG00000162971 tRNA-yW synthesizing protein 5 TYW5 C2orf60, FLJ37953 Yes No Ensembl:ENSG00000162971, GeneCard:C2orf60, HGNC:HGNC:26754, HumanCyc Gene:HS14995, ModBase:A2RUC4, NCBI Gene:129450, RefSeq DNA:NT_005403, RefSeq Protein:NP_001034782, RefSeq RNA:NM_001039693, RefSeq RNA:NR_004862, UniProtKB:A2RUC4 No chr2 200793634 200820459 199928911 199955736 +PA37103 7307 HGNC:12453 ENSG00000160201 U2 small nuclear RNA auxiliary factor 1 U2AF1 RN, RNU2AF1, U2AF35, U2AFBP Yes No Comparative Toxicogenomics Database:7307, Ensembl:ENSG00000160201, GenAtlas:U2AF1, GeneCard:U2AF1, HGNC:HGNC:12453, HumanCyc Gene:HS08462, ModBase:Q01081, NCBI Gene:7307, OMIM:191317, RefSeq DNA:NT_011515, RefSeq Protein:NP_001020374, RefSeq Protein:NP_001020375, RefSeq Protein:NP_006749, RefSeq RNA:NM_001025203, RefSeq RNA:NM_001025204, RefSeq RNA:NM_006758, UCSC Genome Browser:NM_006758, UniProtKB:Q01081, UniProtKB:Q701P4, UniProtKB:Q71RF1, UniProtKB:Q7Z780 No chr21 44513066 44527716 43092956 43108291 +PA164742763 199746 HGNC:23020 ENSG00000161265 U2 small nuclear RNA auxiliary factor 1 like 4 U2AF1L4 U2 small nuclear RNA auxiliary factor 1-like 4 MGC33901, U2AF1L3, U2af26 Yes No Ensembl:ENSG00000161265, GeneCard:U2AF1L4, HGNC:HGNC:23020, HumanCyc Gene:HS08578, NCBI Gene:199746, OMIM:601080, RefSeq DNA:NT_011109, RefSeq Protein:NP_001035515, RefSeq Protein:NP_659424, RefSeq RNA:NM_001040425, RefSeq RNA:NM_144987, UniProtKB:Q8WU68 No chr19 36233428 36236409 35742527 35745442 +PA166352262 HGNC:51830 U2 small nuclear RNA auxiliary factor 1 like 5 U2AF1L5 Yes No HGNC:HGNC:51830 No 0 0 0 0 +PA134908683 11338 HGNC:23156 ENSG00000063244 U2 small nuclear RNA auxiliary factor 2 U2AF2 U2 small nuclear ribonucleoprotein auxiliary factor (65kD), U2 snRNP auxiliary factor large subunit, splicing factor U2AF 65 kD subunit U2AF65 Yes No Ensembl:ENSG00000063244, GeneCard:U2AF2, HGNC:HGNC:23156, HumanCyc Gene:HS00780, ModBase:P26368, NCBI Gene:11338, OMIM:191318, RefSeq DNA:NT_011109, RefSeq Protein:NP_001012496, RefSeq Protein:NP_009210, RefSeq RNA:NM_001012478, RefSeq RNA:NM_007279, UniProtKB:P26368 No chr19 56165416 56186082 55654050 55674716 +PA166049003 23350 HGNC:30855 ENSG00000163714 U2 snRNP associated SURP domain containing U2SURP """Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"", ""U2 snRNP-associated SURP domain containing"", ""functional spliceosome-associated protein a""" SR140, fSAPa Yes No Ensembl:ENSG00000163714, HGNC:HGNC:30855, NCBI Gene:23350 No chr3 142720366 142779567 143001524 143060725 +PA38062 55075 HGNC:15947 ENSG00000137831 uveal autoantigen with coiled-coil domains and ankyrin repeats UACA nucling FLJ10128, KIAA1561 Yes No Comparative Toxicogenomics Database:55075, Ensembl:ENSG00000137831, GenAtlas:UACA, GeneCard:UACA, HGNC:HGNC:15947, HumanCyc Gene:HS06406, ModBase:Q9BZF9, NCBI Gene:55075, OMIM:612516, RefSeq DNA:NT_010194, RefSeq Protein:NP_001008225, RefSeq Protein:NP_060473, RefSeq RNA:NM_001008224, RefSeq RNA:NM_018003, UCSC Genome Browser:NM_018003, UniProtKB:Q05DB3, UniProtKB:Q96NH6, UniProtKB:Q9BZF9 No chr15 70946893 71055932 70654554 70778823 +PA37107 6675 HGNC:12457 ENSG00000117143 UDP-N-acetylglucosamine pyrophosphorylase 1 UAP1 UDP-N-acetylglucosamine diphosphorylase 1, UDP-N-acetylhexosamine pyrophosphorylase 1, UDP-N-acteylglucosamine pyrophosphorylase 1 AGX1, AgX, SPAG2 Yes No Comparative Toxicogenomics Database:6675, Ensembl:ENSG00000117143, GenAtlas:UAP1, GeneCard:UAP1, HGNC:HGNC:12457, HumanCyc Gene:HS04098, NCBI Gene:6675, OMIM:602862, RefSeq DNA:NT_004487, RefSeq Protein:NP_003106, RefSeq RNA:NM_003115, UCSC Genome Browser:NM_003115, UniProtKB:Q16222 No chr1 162531296 162570379 162561440 162599843 +PA134943810 91373 HGNC:28082 ENSG00000197355 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 UAP1L1 UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 Yes No Comparative Toxicogenomics Database:91373, Ensembl:ENSG00000197355, GeneCard:UAP1L1, HGNC:HGNC:28082, NCBI Gene:91373, RefSeq DNA:NT_024000, RefSeq Protein:NP_997192, RefSeq RNA:NM_207309, UniProtKB:Q3KQV9 No chr9 139971944 139978990 137077475 137084538 +PA37119 7317 HGNC:12469 ENSG00000130985 ubiquitin like modifier activating enzyme 1 UBA1 """POC20 centriolar protein homolog (Chlamydomonas)"", ""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""ubiquitin-like modifier activating enzyme 1""" A1S9T, CFAP124, GXP1, POC20, UBE1, UBE1X Yes No Comparative Toxicogenomics Database:7317, Ensembl:ENSG00000130985, GenAtlas:UBE1, GeneCard:UBA1, GeneCard:UBE1, HGNC:HGNC:12469, HumanCyc Gene:HS05465, NCBI Gene:7317, OMIM:301830, OMIM:314370, RefSeq DNA:NG_009161, RefSeq DNA:NT_079573, RefSeq Protein:NP_003325, RefSeq Protein:NP_695012, RefSeq RNA:NM_003334, RefSeq RNA:NM_153280, UCSC Genome Browser:NM_003334, UniProtKB:P22314 No chrX 47050199 47074527 47190800 47215128 +PA162407583 10054 HGNC:30661 ENSG00000126261 ubiquitin like modifier activating enzyme 2 UBA2 """UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"", ""ubiquitin-like modifier activating enzyme 2""" ARX, FLJ13058, HRIHFB2115, SAE2 Yes No Ensembl:ENSG00000126261, GeneCard:UBA2, HGNC:HGNC:30661, HumanCyc Gene:HS05006, ModBase:Q9UBT2, NCBI Gene:10054, OMIM:613295, RefSeq DNA:NT_011109, RefSeq Protein:NP_005490, RefSeq RNA:NM_005499, UniProtKB:Q9UBT2 No chr19 34919264 34960798 34428176 34469893 +PA162407622 9039 HGNC:12470 ENSG00000144744 ubiquitin like modifier activating enzyme 3 UBA3 """NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"", ""UBA3, ubiquitin-activating enzyme E1 homolog (yeast)"", ""ubiquitin-like modifier activating enzyme 3""" NAE2, UBE1C, hUba3 Yes No Ensembl:ENSG00000144744, GeneCard:UBA3, HGNC:HGNC:12470, HumanCyc Gene:HS07200, ModBase:Q8TBC4, NCBI Gene:9039, OMIM:603172, RefSeq DNA:NT_022459, RefSeq Protein:NP_003959, RefSeq Protein:NP_937838, RefSeq RNA:NM_003968, RefSeq RNA:NM_198195, UniProtKB:A6NLB5, UniProtKB:Q8TBC4 No chr3 69103881 69129524 69054730 69080373 +PA162407661 79876 HGNC:23230 ENSG00000081307 ubiquitin like modifier activating enzyme 5 UBA5 """UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"", ""ubiquitin-like modifier activating enzyme 5""" FLJ23251, UBE1DC1 Yes No Ensembl:ENSG00000081307, GeneCard:UBA5, HGNC:HGNC:23230, HumanCyc Gene:HS01393, ModBase:Q9GZZ9, NCBI Gene:79876, OMIM:610552, RefSeq DNA:NT_005612, RefSeq Protein:NP_079094, RefSeq Protein:NP_938143, RefSeq RNA:NM_024818, RefSeq RNA:NM_198329, UniProtKB:Q9GZZ9 No chr3 132373290 132397467 132654446 132679786 +PA37108 7311 HGNC:12458 ENSG00000221983 ubiquitin A-52 residue ribosomal protein fusion product 1 UBA52 60S ribosomal protein L40, ribosomal protein L40, ubiquitin carboxyl extension protein 52, ubiquitin-52 amino acid fusion protein, ubiquitin-CEP52 CEP52, HUBCEP52, L40, MGC126879, MGC126881, MGC57125, RPL40 Yes No Comparative Toxicogenomics Database:7311, Ensembl:ENSG00000221983, GenAtlas:UBA52, GeneCard:UBA52, HGNC:HGNC:12458, NCBI Gene:7311, OMIM:191321, RefSeq DNA:NG_023288, RefSeq DNA:NT_011295, RefSeq Protein:NP_001029102, RefSeq Protein:NP_003324, RefSeq RNA:NM_001033930, RefSeq RNA:NM_003333, UCSC Genome Browser:NM_003333, UniProtKB:Q3MIH3 No chr19 18674576 18688270 18563766 18577460 +PA37109 7312 HGNC:12459 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 1 UBA52P1 Yes No GenAtlas:UBA52P1, GeneCard:UBA52P1, HGNC:HGNC:12459, NCBI Gene:7312, RefSeq DNA:NG_001207, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592 No chr7 25729016 25729690 25689496 25689988 +PA37110 7313 HGNC:12460 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 2 UBA52P2 Yes No GenAtlas:UBA52P2, GeneCard:UBA52P2, HGNC:HGNC:12460, NCBI Gene:7313, RefSeq DNA:NG_001208, RefSeq DNA:NT_026437 No chr14 21866947 21867486 21398882 21399227 +PA134930110 122837 HGNC:20056 ENSG00000243023 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 3 UBA52P3 Yes No Ensembl:ENSG00000243023, GeneCard:UBA52P3, HGNC:HGNC:20056, NCBI Gene:122837, RefSeq DNA:NG_002524, RefSeq DNA:NT_026437 No chr14 58607956 58608476 58141240 58141760 +PA162407690 55236 HGNC:25581 ENSG00000033178 ubiquitin like modifier activating enzyme 6 UBA6 """UBA6, ubiquitin-activating enzyme E1"", ""ubiquitin-like modifier activating enzyme 6""" FLJ10808, UBE1L2 Yes No Ensembl:ENSG00000033178, GeneCard:UBA6, HGNC:HGNC:25581, HumanCyc Gene:HS00492, ModBase:Q8N9E4, ModBase:Q9H3T7, NCBI Gene:55236, OMIM:611361, RefSeq DNA:NT_022778, RefSeq Protein:NP_060697, RefSeq RNA:NM_018227, UniProtKB:A0AVT1 No chr4 68481479 68566889 67615761 67701171 +PA162407761 7318 HGNC:12471 ENSG00000182179 ubiquitin like modifier activating enzyme 7 UBA7 """UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"", ""ubiquitin-like modifier activating enzyme 7""" D8, UBA1B, UBE1L, UBE2 Yes No Ensembl:ENSG00000182179, GeneCard:UBA7, HGNC:HGNC:12471, HumanCyc Gene:HS00051, ModBase:P41226, NCBI Gene:7318, OMIM:191325, RefSeq DNA:NT_022517, RefSeq Protein:NP_003326, RefSeq RNA:NM_003335, UniProtKB:P41226 No chr3 49842638 49851391 49805205 49813958 +PA162407814 10422 HGNC:30221 ENSG00000130560 UBA domain containing 1 UBAC1 Kip1 ubiquitination-promoting complex subunit 2 GBDR1, KPC2, UBADC1 Yes No Ensembl:ENSG00000130560, GeneCard:UBAC1, HGNC:HGNC:30221, HumanCyc Gene:HS13338, ModBase:Q9BSL1, NCBI Gene:10422, OMIM:608129, RefSeq DNA:NT_019501, RefSeq Protein:NP_057256, RefSeq RNA:NM_016172, UniProtKB:Q9BSL1 No chr9 138824815 138853226 135932969 135961380 +PA162407839 337867 HGNC:20486 ENSG00000134882 UBA domain containing 2 UBAC2 FLJ30548, PHGDHL1, RP11-178C10.1 Yes No Ensembl:ENSG00000134882, GeneCard:UBAC2, HGNC:HGNC:20486, HumanCyc Gene:HS11958, ModBase:Q96NW2, NCBI Gene:337867, RefSeq DNA:NT_009952, RefSeq Protein:NP_001137544, RefSeq Protein:NP_808882, RefSeq RNA:NM_001144072, RefSeq RNA:NM_177967, RefSeq RNA:NR_026644, UniProtKB:A8K2S7, UniProtKB:Q8NBM4 No chr13 99852679 100038753 99200425 99386499 +PA142671782 124402 HGNC:29576 ENSG00000153443 UBA like domain containing 1 UBALD1 UBA-like domain containing 1 FAM100A Yes No Ensembl:ENSG00000153443, GeneCard:FAM100A, HGNC:HGNC:29576, HumanCyc Gene:HS14472, ModBase:Q8TB05, NCBI Gene:124402, RefSeq DNA:NT_010393, RefSeq Protein:NP_660296, RefSeq RNA:NM_145253, UniProtKB:Q8TB05 No chr16 4658884 4664927 4608883 4614926 +PA142671783 283991 HGNC:28438 ENSG00000185262 UBA like domain containing 2 UBALD2 UBA-like domain containing 2 FAM100B, MGC29814 Yes No Ensembl:ENSG00000185262, GeneCard:FAM100B, HGNC:HGNC:28438, NCBI Gene:283991, RefSeq DNA:NT_010783, RefSeq Protein:NP_872371, RefSeq RNA:NM_182565, UniProtKB:Q8IYN6 No chr17 74261286 74267379 76265205 76271298 +PA37111 51271 HGNC:12461 ENSG00000165006 ubiquitin associated protein 1 UBAP1 UBAP Yes No Comparative Toxicogenomics Database:51271, Ensembl:ENSG00000165006, GenAtlas:UBAP1, GeneCard:UBAP1, HGNC:HGNC:12461, HumanCyc Gene:HS15273, ModBase:Q9NZ09, NCBI Gene:51271, OMIM:609787, RefSeq DNA:NT_008413, RefSeq Protein:NP_001164672, RefSeq Protein:NP_001164673, RefSeq Protein:NP_001164674, RefSeq Protein:NP_001164675, RefSeq Protein:NP_057609, RefSeq RNA:NM_001171201, RefSeq RNA:NM_001171202, RefSeq RNA:NM_001171203, RefSeq RNA:NM_001171204, RefSeq RNA:NM_016525, RefSeq RNA:NR_033243, UCSC Genome Browser:NM_016525, UniProtKB:B7Z348, UniProtKB:B7Z8N9, UniProtKB:Q9NZ09 No chr9 34179003 34252521 34179005 34252523 +PA166049050 390595 HGNC:40028 ENSG00000246922 ubiquitin associated protein 1 like UBAP1L ubiquitin associated protein 1-like Yes No Ensembl:ENSG00000246922, HGNC:HGNC:40028, NCBI Gene:390595 No chr15 65385108 65405985 65092760 65106656 +PA38379 55833 HGNC:14185 ENSG00000137073 ubiquitin associated protein 2 UBAP2 FLJ22435, KIAA1491, bA176F3.5 Yes No Comparative Toxicogenomics Database:55833, Ensembl:ENSG00000137073, GenAtlas:UBAP2, GeneCard:UBAP2, HGNC:HGNC:14185, HumanCyc Gene:HS13657, ModBase:Q5T6F2, NCBI Gene:55833, RefSeq DNA:NT_008413, RefSeq Protein:NP_060919, RefSeq RNA:NM_018449, UCSC Genome Browser:NM_018449, UniProtKB:Q5T6F2, UniProtKB:Q9P0H6 No chr9 33921691 34048947 33921693 34048949 +PA134883839 9898 HGNC:29877 ENSG00000143569 ubiquitin associated protein 2 like UBAP2L ubiquitin associated protein 2-like KIAA0144, NICE-4 Yes No Comparative Toxicogenomics Database:9898, Ensembl:ENSG00000143569, GeneCard:UBAP2L, HGNC:HGNC:29877, HumanCyc Gene:HS13975, ModBase:Q14157, NCBI Gene:9898, RefSeq DNA:NT_004487, RefSeq Protein:NP_001120792, RefSeq Protein:NP_055662, RefSeq RNA:NM_001127320, RefSeq RNA:NM_014847, UniProtKB:Q14157 No chr1 154192427 154243986 154220172 154271510 +PA37112 53347 HGNC:12462 ENSG00000160185 ubiquitin associated and SH3 domain containing A UBASH3A T-cell ubiquitin ligand protein CLIP4, STS-2, TULA Yes No Ensembl:ENSG00000160185, GenAtlas:UBASH3A, GeneCard:UBASH3A, HGNC:HGNC:12462, HumanCyc Gene:HS08454, ModBase:P57075, NCBI Gene:53347, OMIM:605736, RefSeq DNA:NT_011515, RefSeq Protein:NP_001001895, RefSeq Protein:NP_061834, RefSeq RNA:NM_001001895, RefSeq RNA:NM_018961, UCSC Genome Browser:NM_018961, UniProtKB:P57075, UniProtKB:Q8N6V2 No chr21 43823971 43867790 42403862 42447680 +PA162407840 84959 HGNC:29884 ENSG00000154127 ubiquitin associated and SH3 domain containing B UBASH3B """SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"", ""T-cell ubiquitin ligand 2""" KIAA1959, STS-1, TULA-2, TULA2 Yes Yes Ensembl:ENSG00000154127, GeneCard:UBASH3B, HGNC:HGNC:29884, HumanCyc Gene:HS07950, ModBase:Q8TF42, NCBI Gene:84959, OMIM:609201, RefSeq DNA:NT_033899, RefSeq Protein:NP_116262, RefSeq RNA:NM_032873, UniProtKB:Q8TF42 No chr11 122526398 122685187 122655690 122814479 +PA37113 7314 HGNC:12463 ENSG00000170315 ubiquitin B UBB polyubiquitin B FLJ25987, MGC8385 Yes No Comparative Toxicogenomics Database:7314, Ensembl:ENSG00000170315, GenAtlas:UBB, GeneCard:UBB, HGNC:HGNC:12463, HumanCyc Gene:HS10100, NCBI Gene:7314, OMIM:119540, OMIM:191339, RefSeq DNA:NG_023320, RefSeq DNA:NT_010718, RefSeq Protein:NP_061828, RefSeq RNA:NM_018955, UCSC Genome Browser:NM_018955, UniProtKB:Q5U5U6 No chr17 16284367 16286059 16380793 16382745 +PA37114 7315 HGNC:12464 ENSG00000230037 ubiquitin B pseudogene 1 UBBP1 Yes No Ensembl:ENSG00000230037, GenAtlas:UBBP1, GeneCard:UBBP1, HGNC:HGNC:12464, NCBI Gene:7315, RefSeq DNA:NG_002284, RefSeq DNA:NT_022135 No chr2 137086870 137087572 136329300 136330002 +PA37115 23668 HGNC:12465 ENSG00000228247 ubiquitin B pseudogene 2 UBBP2 Yes No Ensembl:ENSG00000228247, GenAtlas:UBBP2, GeneCard:UBBP2, HGNC:HGNC:12465, NCBI Gene:23668, RefSeq DNA:NG_002287, RefSeq DNA:NT_167186 No chr1 218023601 218024025 217850259 217850683 +PA37116 23667 HGNC:12466 ENSG00000223962 ubiquitin B pseudogene 3 UBBP3 Yes No Ensembl:ENSG00000223962, GenAtlas:UBBP3, GeneCard:UBBP3, HGNC:HGNC:12466, NCBI Gene:23667, RefSeq DNA:NG_002286, RefSeq DNA:NT_022135 No chr2 149620995 149621370 148863426 148863801 +PA37117 23666 HGNC:12467 ENSG00000263563 ubiquitin B pseudogene 4 UBBP4 Yes No Ensembl:ENSG00000263563, GenAtlas:UBBP4, GeneCard:UBBP4, HGNC:HGNC:12467, NCBI Gene:23666, RefSeq DNA:NG_002285, RefSeq DNA:NT_024862 No chr17 21729865 21731757 22203650 22205156 +PA37118 7316 HGNC:12468 ENSG00000150991 ubiquitin C UBC polyubiquitin-C Yes No Comparative Toxicogenomics Database:7316, Ensembl:ENSG00000150991, GenAtlas:UBC, GeneCard:UBC, HGNC:HGNC:12468, HumanCyc Gene:HS07699, ModBase:Q91887, NCBI Gene:7316, OMIM:191340, RefSeq DNA:NT_009755, RefSeq Protein:NP_066289, RefSeq RNA:NM_021009, UCSC Genome Browser:NM_021009 No chr12 125396192 125399587 124911645 124915041 +PA38682 10537 HGNC:18795 ENSG00000213886, ENSG00000231968 ubiquitin D UBD FAT10 Yes No Comparative Toxicogenomics Database:10537, Ensembl:ENSG00000213886, Ensembl:ENSG00000231968, GenAtlas:UBD, GeneCard:UBD, HGNC:HGNC:18795, HumanCyc Gene:HS06332, ModBase:O15205, NCBI Gene:10537, OMIM:606050, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_006389, RefSeq RNA:NM_006398, UCSC Genome Browser:NM_006398, UniProtKB:O15205 No chr6 29523389 29527702 29555612 29559925 +PA134981866 100286971 HGNC:18796 ENSG00000225797 ubiquitin D pseudogene 1 UBDP1 dJ994E9.3 Yes No Ensembl:ENSG00000225797, GeneCard:UBDP1, HGNC:HGNC:18796, NCBI Gene:100286971 No chr6 29432452 29432722 29464675 29464945 +PA37122 7319 HGNC:12472 ENSG00000077721 ubiquitin conjugating enzyme E2 A UBE2A ubiquitin-conjugating enzyme E2A HHR6A, HR6A, RAD6A, UBC2 Yes No Comparative Toxicogenomics Database:7319, Ensembl:ENSG00000077721, GenAtlas:UBE2A, GeneCard:UBE2A, HGNC:HGNC:12472, HumanCyc Gene:HS01256, ModBase:P49459, NCBI Gene:7319, OMIM:312180, RefSeq DNA:NG_009267, RefSeq DNA:NT_011786, RefSeq Protein:NP_003327, RefSeq Protein:NP_861427, RefSeq Protein:NP_861442, RefSeq RNA:NM_003336, RefSeq RNA:NM_181762, RefSeq RNA:NM_181777, UCSC Genome Browser:NM_003336, UniProtKB:A6NFE9, UniProtKB:A6NGR2, UniProtKB:P49459 No chrX 118708499 118718381 119574467 119584429 +PA37123 7320 HGNC:12473 ENSG00000119048 ubiquitin conjugating enzyme E2 B UBE2B ubiquitin-conjugating enzyme E2B HHR6B, RAD6B, UBC2 Yes No Comparative Toxicogenomics Database:7320, Ensembl:ENSG00000119048, GenAtlas:UBE2B, GeneCard:UBE2B, HGNC:HGNC:12473, HumanCyc Gene:HS04274, ModBase:P63146, NCBI Gene:7320, OMIM:179095, RefSeq DNA:NT_034772, RefSeq Protein:NP_003328, RefSeq RNA:NM_003337, UCSC Genome Browser:NM_003337, UniProtKB:P63146 No chr5 133706843 133727799 134371176 134392108 +PA38057 11065 HGNC:15937 ENSG00000175063 ubiquitin conjugating enzyme E2 C UBE2C ubiquitin-conjugating enzyme E2C UBCH10 Yes No Comparative Toxicogenomics Database:11065, Ensembl:ENSG00000175063, GenAtlas:UBE2C, GeneCard:UBE2C, HGNC:HGNC:15937, HumanCyc Gene:HS10872, ModBase:O00762, NCBI Gene:11065, OMIM:605574, RefSeq DNA:NT_011362, RefSeq Protein:NP_008950, RefSeq Protein:NP_861515, RefSeq Protein:NP_861516, RefSeq Protein:NP_861517, RefSeq Protein:NP_861518, RefSeq Protein:NP_861519, RefSeq RNA:NM_007019, RefSeq RNA:NM_181799, RefSeq RNA:NM_181800, RefSeq RNA:NM_181801, RefSeq RNA:NM_181802, RefSeq RNA:NM_181803, UCSC Genome Browser:NM_007019, UniProtKB:A6NKY3, UniProtKB:A6NP33, UniProtKB:O00762, UniProtKB:Q5TZN3 No chr20 44441255 44445596 45812576 45816957 +PA134931593 326105 HGNC:19670 ENSG00000258648 ubiquitin-conjugating enzyme E2C pseudogene 1 UBE2CP1 Yes No Ensembl:ENSG00000258648, GeneCard:UBE2CP1, HGNC:HGNC:19670, NCBI Gene:326105, RefSeq DNA:NG_002528, RefSeq DNA:NT_026437 No chr14 31152068 31152856 30682862 30683650 +PA37124 7321 HGNC:12474 ENSG00000072401 ubiquitin conjugating enzyme E2 D1 UBE2D1 ubiquitin-conjugating enzyme E2D 1 E2(17)KB1, SFT, UBC4/5, UBCH5, UbcH5A Yes No Comparative Toxicogenomics Database:7321, Ensembl:ENSG00000072401, GenAtlas:UBE2D1, GeneCard:UBE2D1, HGNC:HGNC:12474, HumanCyc Gene:HS01066, ModBase:P51668, NCBI Gene:7321, OMIM:602961, RefSeq DNA:NT_030059, RefSeq Protein:NP_001191809, RefSeq Protein:NP_003329, RefSeq RNA:NM_001204880, RefSeq RNA:NM_003338, UCSC Genome Browser:NM_003338, UniProtKB:P51668 No chr10 60094739 60130513 58334979 58370753 +PA37125 7322 HGNC:12475 ENSG00000131508 ubiquitin conjugating enzyme E2 D2 UBE2D2 ubiquitin-conjugating enzyme E2D 2 UBC4, UbcH5B Yes No Comparative Toxicogenomics Database:7322, Ensembl:ENSG00000131508, GenAtlas:UBE2D2, GeneCard:UBE2D2, HGNC:HGNC:12475, HumanCyc Gene:HS05542, ModBase:P62837, NCBI Gene:7322, OMIM:602962, RefSeq DNA:NT_029289, RefSeq Protein:NP_003330, RefSeq Protein:NP_862821, RefSeq RNA:NM_003339, RefSeq RNA:NM_181838, UCSC Genome Browser:NM_003339, UniProtKB:P62837, UniProtKB:Q96RP6 No chr5 138940751 139008019 139561166 139628434 +PA37126 7323 HGNC:12476 ENSG00000109332 ubiquitin conjugating enzyme E2 D3 UBE2D3 ubiquitin-conjugating enzyme E2D 3 UbcH5C Yes No Comparative Toxicogenomics Database:7323, Ensembl:ENSG00000109332, GenAtlas:UBE2D3, GeneCard:UBE2D3, HGNC:HGNC:12476, HumanCyc Gene:HS03220, ModBase:P61077, NCBI Gene:7323, OMIM:602963, RefSeq DNA:NT_016354, RefSeq Protein:NP_003331, RefSeq Protein:NP_871615, RefSeq Protein:NP_871616, RefSeq Protein:NP_871617, RefSeq Protein:NP_871618, RefSeq Protein:NP_871619, RefSeq Protein:NP_871620, RefSeq Protein:NP_871621, RefSeq Protein:NP_871622, RefSeq RNA:NM_003340, RefSeq RNA:NM_181886, RefSeq RNA:NM_181887, RefSeq RNA:NM_181888, RefSeq RNA:NM_181889, RefSeq RNA:NM_181890, RefSeq RNA:NM_181891, RefSeq RNA:NM_181892, RefSeq RNA:NM_181893, UCSC Genome Browser:NM_003340, UniProtKB:P61077 No chr4 103715540 103790050 102794383 102868893 +PA134954568 51619 HGNC:21647 ENSG00000078967 ubiquitin conjugating enzyme E2 D4 UBE2D4 ubiquitin conjugating enzyme E2 D4 (putative), ubiquitin-conjugating enzyme E2D 4 (putative) HBUCE1 Yes No Ensembl:ENSG00000078967, GeneCard:UBE2D4, HGNC:HGNC:21647, HumanCyc Gene:HS01308, ModBase:Q9Y2X8, NCBI Gene:51619, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_057067, RefSeq RNA:NM_015983, UniProtKB:Q9Y2X8 No chr7 43966035 43995735 43926436 43956136 +PA37127 7324 HGNC:12477 ENSG00000170142 ubiquitin conjugating enzyme E2 E1 UBE2E1 ubiquitin-conjugating enzyme E2E 1 UbcH6 Yes No Comparative Toxicogenomics Database:7324, Ensembl:ENSG00000170142, GenAtlas:UBE2E1, GeneCard:UBE2E1, HGNC:HGNC:12477, HumanCyc Gene:HS10072, ModBase:P51965, NCBI Gene:7324, OMIM:602916, RefSeq DNA:NT_022517, RefSeq Protein:NP_001189405, RefSeq Protein:NP_003332, RefSeq Protein:NP_872607, RefSeq RNA:NM_001202476, RefSeq RNA:NM_003341, RefSeq RNA:NM_182666, UCSC Genome Browser:NM_003341, UniProtKB:A6NDQ7, UniProtKB:P51965 No chr3 23847384 23933131 23805893 23891640 +PA37128 7325 HGNC:12478 ENSG00000182247 ubiquitin conjugating enzyme E2 E2 UBE2E2 ubiquitin-conjugating enzyme E2E 2 FLJ25157, UbcH8 Yes No Comparative Toxicogenomics Database:7325, Ensembl:ENSG00000182247, GenAtlas:UBE2E2, GeneCard:UBE2E2, HGNC:HGNC:12478, HumanCyc Gene:HS11981, ModBase:Q96LR5, NCBI Gene:7325, OMIM:602163, RefSeq DNA:NT_022517, RefSeq Protein:NP_689866, RefSeq RNA:NM_152653, UniProtKB:Q96LR5 No chr3 23244498 23632296 23203007 23590805 +PA37129 10477 HGNC:12479 ENSG00000170035 ubiquitin conjugating enzyme E2 E3 UBE2E3 ubiquitin-conjugating enzyme E2E 3 UbcH9 Yes No Ensembl:ENSG00000170035, GenAtlas:UBE2E3, GeneCard:UBE2E3, HGNC:HGNC:12479, ModBase:Q969T4, NCBI Gene:10477, OMIM:604151, RefSeq DNA:NT_005403, RefSeq Protein:NP_006348, RefSeq Protein:NP_872619, RefSeq RNA:NM_006357, RefSeq RNA:NM_182678, UCSC Genome Browser:NM_006357, UniProtKB:Q969T4 No chr2 181845112 181928154 180980381 181063427 +PA142670663 286480 HGNC:32199 ENSG00000233247 ubiquitin-conjugating enzyme E2E 4 pseudogene UBE2E4P UbcM2 Yes No Ensembl:ENSG00000233247, GeneCard:UBE2E4P, HGNC:HGNC:32199, NCBI Gene:286480, RefSeq DNA:NG_004721, RefSeq DNA:NT_167197 No chrX 14262003 14263552 14244265 14245423 +PA37130 140739 HGNC:12480 ENSG00000184182 ubiquitin conjugating enzyme E2 F (putative) UBE2F NEDD8 conjugating enzyme, ubiquitin-conjugating enzyme E2F (putative) NCE2 Yes No Comparative Toxicogenomics Database:140739, Ensembl:ENSG00000184182, GenAtlas:UBE2F, GeneCard:UBE2F, HGNC:HGNC:12480, HumanCyc Gene:HS05620, ModBase:Q969M7, NCBI Gene:140739, RefSeq DNA:NT_005120, RefSeq Protein:NP_542409, RefSeq RNA:NM_080678, UniProtKB:Q969M7 No chr2 238875587 238951423 237966945 238042782 +PA37131 7326 HGNC:12482 ENSG00000132388 ubiquitin conjugating enzyme E2 G1 UBE2G1 ubiquitin-conjugating enzyme E2G 1 UBC7, UBE2G Yes No Comparative Toxicogenomics Database:7326, Ensembl:ENSG00000132388, GenAtlas:UBE2G1, GeneCard:UBE2G1, HGNC:HGNC:12482, HumanCyc Gene:HS05630, ModBase:P62253, NCBI Gene:7326, OMIM:601569, RefSeq DNA:NT_010718, RefSeq Protein:NP_003333, RefSeq RNA:NM_003342, UCSC Genome Browser:NM_003342, UniProtKB:P62253 No chr17 4172512 4269969 4269217 4366674 +PA37132 7327 HGNC:12483 ENSG00000184787 ubiquitin conjugating enzyme E2 G2 UBE2G2 ubiquitin-conjugating enzyme E2G 2 UBC7 Yes No Comparative Toxicogenomics Database:7327, Ensembl:ENSG00000184787, GenAtlas:UBE2G2, GeneCard:UBE2G2, HGNC:HGNC:12483, HumanCyc Gene:HS00052, ModBase:P60604, NCBI Gene:7327, OMIM:603124, RefSeq DNA:NT_011515, RefSeq Protein:NP_001189418, RefSeq Protein:NP_003334, RefSeq Protein:NP_872630, RefSeq RNA:NM_001202489, RefSeq RNA:NM_003343, RefSeq RNA:NM_182688, UCSC Genome Browser:NM_003343, UniProtKB:A6NMQ7, UniProtKB:P60604 No chr21 46188495 46221751 44768580 44801836 +PA37133 7328 HGNC:12484 ENSG00000186591 ubiquitin conjugating enzyme E2 H UBE2H """GID complex subunit 3, UBC8 homolog (S. cerevisiae)"", ""ubiquitin-conjugating enzyme E2H""" GID3, UBC8, UBCH Yes No Comparative Toxicogenomics Database:7328, Ensembl:ENSG00000186591, GenAtlas:UBE2H, GeneCard:UBE2H, HGNC:HGNC:12484, HumanCyc Gene:HS07377, ModBase:P62256, NCBI Gene:7328, OMIM:601082, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001189427, RefSeq Protein:NP_003335, RefSeq Protein:NP_874356, RefSeq RNA:NM_001202498, RefSeq RNA:NM_003344, RefSeq RNA:NM_182697, UCSC Genome Browser:NM_003344, UniProtKB:A4D1L5, UniProtKB:A4D1L6, UniProtKB:P62256, UniProtKB:Q7Z6F4 No chr7 129470572 129592800 129830732 129952960 +PA134918965 646463 HGNC:31079 ENSG00000253677 ubiquitin-conjugating enzyme E2H pseudogene 1 UBE2HP1 Yes No Ensembl:ENSG00000253677, HGNC:HGNC:31079, NCBI Gene:646463, RefSeq DNA:NG_008822, RefSeq DNA:NT_008183, RefSeq Protein:XP_001716125, RefSeq Protein:XP_001716176, RefSeq Protein:XP_001716185, RefSeq RNA:XM_001716073, RefSeq RNA:XM_001716124, RefSeq RNA:XM_001716133 No chr8 82167120 82168005 81254824 81255870 +PA37134 7329 HGNC:12485 ENSG00000103275 ubiquitin conjugating enzyme E2 I UBE2I ubiquitin-conjugating enzyme E2I UBC9 Yes Yes Comparative Toxicogenomics Database:7329, Ensembl:ENSG00000103275, GenAtlas:UBE2I, GeneCard:UBE2I, HGNC:HGNC:12485, HumanCyc Gene:HS02485, ModBase:P63279, NCBI Gene:7329, OMIM:601661, RefSeq DNA:NT_010393, RefSeq Protein:NP_003336, RefSeq Protein:NP_919235, RefSeq Protein:NP_919236, RefSeq Protein:NP_919237, RefSeq RNA:NM_003345, RefSeq RNA:NM_194259, RefSeq RNA:NM_194260, RefSeq RNA:NM_194261, UCSC Genome Browser:NM_003345, UniProtKB:P63279 No chr16 1357420 1377019 1309153 1327018 +PA134906541 51465 HGNC:17598 ENSG00000198833 ubiquitin conjugating enzyme E2 J1 UBE2J1 ubiquitin-conjugating enzyme E2, J1 CGI-76, HSPC153, NCUBE1, UBC6 Yes No Comparative Toxicogenomics Database:51465, Ensembl:ENSG00000198833, GeneCard:UBE2J1, HGNC:HGNC:17598, HumanCyc Gene:HS03482, ModBase:Q9UF10, NCBI Gene:51465, RefSeq DNA:NT_007299, RefSeq Protein:NP_057105, RefSeq RNA:NM_016021, UniProtKB:Q9Y385 No chr6 90036344 90062619 89326625 89352917 +PA134882268 118424 HGNC:19268 ENSG00000160087 ubiquitin conjugating enzyme E2 J2 UBE2J2 ubiquitin-conjugating enzyme E2, J2 NCUBE2, Ubc6p Yes No Comparative Toxicogenomics Database:118424, Ensembl:ENSG00000160087, GeneCard:UBE2J2, HGNC:HGNC:19268, HumanCyc Gene:HS08445, ModBase:Q8N2K1, NCBI Gene:118424, RefSeq DNA:NT_004350, RefSeq Protein:NP_477515, RefSeq Protein:NP_919296, RefSeq Protein:NP_919439, RefSeq Protein:NP_919440, RefSeq RNA:NM_058167, RefSeq RNA:NM_194315, RefSeq RNA:NM_194457, RefSeq RNA:NM_194458, UniProtKB:A6NGS0, UniProtKB:A8MYC7, UniProtKB:Q8N2K1 No chr1 1189292 1209234 1253912 1273854 +PA162407874 3093 HGNC:4914 ENSG00000078140 ubiquitin conjugating enzyme E2 K UBE2K ubiquitin-conjugating enzyme E2K HIP2, HYPG, UBC1 Yes No Ensembl:ENSG00000078140, GeneCard:UBE2K, HGNC:HGNC:4914, HumanCyc Gene:HS01274, ModBase:P61086, NCBI Gene:3093, OMIM:602846, RefSeq DNA:NT_016297, RefSeq Protein:NP_001104582, RefSeq Protein:NP_001104583, RefSeq Protein:NP_005330, RefSeq RNA:NM_001111112, RefSeq RNA:NM_001111113, RefSeq RNA:NM_005339, UniProtKB:C9JGP1, UniProtKB:P61086 No chr4 39699664 39784412 39698044 39782792 +PA37135 283556 HGNC:12486 ubiquitin-conjugating enzyme E2L 1 pseudogene UBE2L1 Yes No GenAtlas:UBE2L1, GeneCard:UBE2L1, GeneCard:UBE2L7P, HGNC:HGNC:12486, NCBI Gene:283556, OMIM:600012, RefSeq DNA:NG_002490, RefSeq DNA:NG_003101, RefSeq DNA:NT_026437 No chr14 55695911 55696654 55229193 55229936 +PA37136 100506424 HGNC:12487 ENSG00000131982 ubiquitin-conjugating enzyme E2L 2 (pseudogene) UBE2L2 Yes No Ensembl:ENSG00000131982, GenAtlas:UBE2L2, GeneCard:UBE2L2, HGNC:HGNC:12487, NCBI Gene:100506424 No chr12 20602372 20603067 20449438 20450133 +PA37137 7332 HGNC:12488 ENSG00000185651 ubiquitin conjugating enzyme E2 L3 UBE2L3 ubiquitin-conjugating enzyme E2L 3 UBCH7 Yes No Comparative Toxicogenomics Database:7332, Ensembl:ENSG00000185651, GenAtlas:UBE2L3, GeneCard:UBE2L3, HGNC:HGNC:12488, HumanCyc Gene:HS05588, ModBase:P68036, NCBI Gene:7332, OMIM:603721, RefSeq DNA:NT_011520, RefSeq Protein:NP_003338, RefSeq Protein:NP_937800, RefSeq RNA:NM_003347, RefSeq RNA:NM_198157, RefSeq RNA:NR_028436, RefSeq RNA:NR_028437, UCSC Genome Browser:NM_003347, UniProtKB:P68036 No chr22 21903736 21978323 21549447 21624034 +PA37138 7333 HGNC:12489 ENSG00000267741 ubiquitin-conjugating enzyme E2L 4 UBE2L4 Yes No Ensembl:ENSG00000267741, GenAtlas:UBE2L4, GeneCard:UBE2L4, HGNC:HGNC:12489, NCBI Gene:7333, RefSeq DNA:NG_001209, RefSeq DNA:NT_011295 No chr19 9885173 9885636 9774485 9775160 +PA142670664 171222 HGNC:13477 ENSG00000236444 ubiquitin conjugating enzyme E2 L5 UBE2L5 ubiquitin-conjugating enzyme E2L 5 (pseudogene) UBE2L5P Yes No Ensembl:ENSG00000236444, GeneCard:UBE2L5P, HGNC:HGNC:13477, NCBI Gene:171222, RefSeq DNA:NG_001319, RefSeq DNA:NT_024524 No chr13 31002122 31002478 30427943 30428541 +PA37139 9246 HGNC:12490 ENSG00000156587 ubiquitin conjugating enzyme E2 L6 UBE2L6 ubiquitin-conjugating enzyme E2L 6 UBCH8 Yes No Comparative Toxicogenomics Database:9246, Ensembl:ENSG00000156587, GenAtlas:UBE2L6, GeneCard:UBE2L6, HGNC:HGNC:12490, HumanCyc Gene:HS08142, ModBase:O14933, NCBI Gene:9246, OMIM:603890, RefSeq DNA:NT_167190, RefSeq Protein:NP_004214, RefSeq Protein:NP_937826, RefSeq RNA:NM_004223, RefSeq RNA:NM_198183, UCSC Genome Browser:NM_004223, UniProtKB:O14933 No chr11 57319128 57335803 57551655 57568330 +PA37140 9040 HGNC:12491 ENSG00000130725 ubiquitin conjugating enzyme E2 M UBE2M ubiquitin-conjugating enzyme E2M UBC12, hUbc12 Yes No Comparative Toxicogenomics Database:9040, Ensembl:ENSG00000130725, GenAtlas:UBE2M, GeneCard:UBE2M, HGNC:HGNC:12491, HumanCyc Gene:HS05432, ModBase:P61081, NCBI Gene:9040, OMIM:603173, RefSeq DNA:NT_011109, RefSeq Protein:NP_003960, RefSeq RNA:NM_003969, UCSC Genome Browser:NM_003969, UniProtKB:P61081 No chr19 59067079 59070343 58555712 58558976 +PA142670650 606551 HGNC:32195 ENSG00000261461 ubiquitin-conjugating enzyme E2M pseudogene 1 UBE2MP1 Yes No Ensembl:ENSG00000261461, GeneCard:UBE2MP1, HGNC:HGNC:32195, NCBI Gene:606551, RefSeq DNA:NT_024773, RefSeq RNA:NR_002837 No chr16 34403802 34404762 35169431 35170391 +PA37141 7334 HGNC:12492 ENSG00000177889 ubiquitin conjugating enzyme E2 N UBE2N ubiquitin-conjugating enzyme E2N MGC8489, UBC13, UbcH-ben Yes No Comparative Toxicogenomics Database:7334, Ensembl:ENSG00000177889, GenAtlas:UBE2N, GeneCard:UBE2N, HGNC:HGNC:12492, HumanCyc Gene:HS11227, HumanCyc Gene:HS11278, ModBase:P61088, NCBI Gene:7334, OMIM:603679, RefSeq DNA:NT_029419, RefSeq Protein:NP_003339, RefSeq RNA:NM_003348, UCSC Genome Browser:NM_003348, UniProtKB:P61088 No chr12 93802088 93836026 93408312 93443808 +PA134943659 389898 HGNC:31710 ENSG00000276380 ubiquitin conjugating enzyme E2 N like (gene/pseudogene) UBE2NL ubiquitin-conjugating enzyme E2N-like, ubiquitin-conjugating enzyme E2N-like (gene/pseudogene) Yes No Ensembl:ENSG00000276380, GeneCard:UBE2NL, HGNC:HGNC:31710, ModBase:Q5JXB2, NCBI Gene:389898, RefSeq DNA:NG_016268, RefSeq DNA:NT_011786, RefSeq Protein:NP_001013007, RefSeq RNA:NM_001012989, UniProtKB:Q5JXB2 No chrX 142967173 142968362 143884071 143885255 +PA134863154 100288613 HGNC:20337 ENSG00000256385 ubiquitin-conjugating enzyme E2N pseudogene 1 UBE2NP1 Yes No Ensembl:ENSG00000256385, GeneCard:UBE2NP1, HGNC:HGNC:20337, NCBI Gene:100288613 No chr14 22079928 22080598 21611773 21612458 +PA142670651 63893 HGNC:29554 ENSG00000175931 ubiquitin conjugating enzyme E2 O UBE2O ubiquitin-conjugating enzyme E2O E2-230K Yes No Comparative Toxicogenomics Database:63893, Ensembl:ENSG00000175931, GeneCard:UBE2O, HGNC:HGNC:29554, HumanCyc Gene:HS10987, NCBI Gene:63893, RefSeq DNA:NT_010783, RefSeq Protein:NP_071349, RefSeq RNA:NM_022066, UniProtKB:Q9C0C9 No chr17 74385613 74449288 76389532 76453206 +PA38029 55585 HGNC:15698 ENSG00000160714 ubiquitin conjugating enzyme E2 Q1 UBE2Q1 ubiquitin-conjugating enzyme E2Q family member 1 NICE-5, PRO3094, UBE2Q Yes No Comparative Toxicogenomics Database:55585, Ensembl:ENSG00000160714, GenAtlas:UBE2Q1, GeneCard:UBE2Q1, HGNC:HGNC:15698, HumanCyc Gene:HS08525, ModBase:Q7Z7E8, NCBI Gene:55585, RefSeq DNA:NT_004487, RefSeq Protein:NP_060052, RefSeq RNA:NM_017582, UCSC Genome Browser:NM_017582, UniProtKB:Q29SN7, UniProtKB:Q7Z7E8 No chr1 154521051 154531138 154548575 154558644 +PA142670652 92912 HGNC:19248 ENSG00000140367 ubiquitin conjugating enzyme E2 Q2 UBE2Q2 ubiquitin-conjugating enzyme E2Q family member 2 DKFZp762C143 Yes No Ensembl:ENSG00000140367, GeneCard:UBE2Q2, HGNC:HGNC:19248, ModBase:Q8WVN8, NCBI Gene:92912, OMIM:612501, RefSeq DNA:NT_010194, RefSeq Protein:NP_001138807, RefSeq Protein:NP_775740, RefSeq RNA:NM_001145335, RefSeq RNA:NM_173469, UniProtKB:B7Z3Q2, UniProtKB:Q8WVN8 No chr15 76135622 76193388 75843286 75901047 +PA166123750 100505679 HGNC:44656 ENSG00000259511 ubiquitin-conjugating enzyme E2Q family member 2-like UBE2Q2L Yes No Ensembl:ENSG00000259511, HGNC:HGNC:44656, NCBI Gene:100505679 No +PA165660602 134111 HGNC:37269 ENSG00000215218 ubiquitin conjugating enzyme E2 QL1 UBE2QL1 ubiquitin conjugating enzyme E2 Q family like 1, ubiquitin-conjugating enzyme E2Q family-like 1 FLJ25076 Yes No Ensembl:ENSG00000215218, GeneCard:UBE2QL1, HGNC:HGNC:37269, NCBI Gene:134111, RefSeq DNA:NT_006576, RefSeq Protein:NP_001138633, RefSeq RNA:NM_001145161, UniProtKB:A1L167 No chr5 6437460 6496834 6448623 6496721 +PA134946881 54926 HGNC:19907 ENSG00000107341 ubiquitin conjugating enzyme E2 R2 UBE2R2 ubiquitin-conjugating enzyme E2R 2 CDC34B, FLJ20419, MGC10481, UBC3B Yes No Ensembl:ENSG00000107341, GeneCard:UBE2R2, HGNC:HGNC:19907, HumanCyc Gene:HS02992, ModBase:Q712K3, NCBI Gene:54926, OMIM:612506, RefSeq DNA:NT_008413, RefSeq Protein:NP_060281, RefSeq RNA:NM_017811, UniProtKB:Q712K3 No chr9 33817162 33920401 33817164 33920403 +PA134904441 27338 HGNC:17895 ENSG00000108106 ubiquitin conjugating enzyme E2 S UBE2S ubiquitin carrier protein, ubiquitin-conjugating enzyme E2-24 kD, ubiquitin-conjugating enzyme E2S, ubiquitin-protein ligase E2-EPF Yes No Comparative Toxicogenomics Database:27338, Ensembl:ENSG00000108106, GeneCard:UBE2S, HGNC:HGNC:17895, HumanCyc Gene:HS03065, ModBase:Q16763, NCBI Gene:27338, OMIM:610309, RefSeq DNA:NT_011109, RefSeq Protein:NP_055316, RefSeq RNA:NM_014501, UniProtKB:Q16763 No chr19 55912650 55919325 55401282 55408146 +PA142670653 246719 HGNC:30864 ENSG00000233966 ubiquitin-conjugating enzyme E2S pseudogene 1 UBE2SP1 Yes No Ensembl:ENSG00000233966, GeneCard:UBE2SP1, HGNC:HGNC:30864, NCBI Gene:246719, RefSeq DNA:NG_001583, RefSeq DNA:NT_010718 No chr17 15607393 15608407 15704079 15705093 +PA142670654 440406 HGNC:32196 ENSG00000224126 ubiquitin-conjugating enzyme E2S pseudogene 2 UBE2SP2 Yes No Ensembl:ENSG00000224126, GeneCard:UBE2SP2, HGNC:HGNC:32196, NCBI Gene:440406 No chr17 18580574 18581325 18677261 18677912 +PA142670655 29089 HGNC:25009 ENSG00000077152 ubiquitin conjugating enzyme E2 T UBE2T ubiquitin-conjugating enzyme E2T (putative) FANCT, HSPC150 Yes No Comparative Toxicogenomics Database:29089, Ensembl:ENSG00000077152, GeneCard:UBE2T, HGNC:HGNC:25009, HumanCyc Gene:HS01232, ModBase:Q9NPD8, NCBI Gene:29089, OMIM:610538, RefSeq DNA:NT_004487, RefSeq Protein:NP_054895, RefSeq RNA:NM_014176, UniProtKB:Q9NPD8 No chr1 202300785 202311094 202331657 202341966 +PA142670656 148581 HGNC:28559 ENSG00000177414 ubiquitin conjugating enzyme E2 U UBE2U ubiquitin-conjugating enzyme E2U (putative) MGC35130 Yes No Ensembl:ENSG00000177414, GeneCard:UBE2U, HGNC:HGNC:28559, HumanCyc Gene:HS11164, ModBase:Q5VVX9, NCBI Gene:148581, RefSeq DNA:NT_032977, RefSeq Protein:NP_689702, RefSeq RNA:NM_152489, UniProtKB:Q5VVX9 No chr1 64669135 64732969 64202802 64267381 +PA37142 7335 HGNC:12494 ENSG00000244687 ubiquitin conjugating enzyme E2 V1 UBE2V1 ubiquitin-conjugating enzyme E2 variant 1 CROC-1, CROC1, UBE2V, UEV-1, UEV1A Yes No Comparative Toxicogenomics Database:7335, Ensembl:ENSG00000244687, GenAtlas:UBE2V1, GeneCard:UBE2V1, HGNC:HGNC:12494, HumanCyc Gene:HS04736, ModBase:Q9UKL1, NCBI Gene:7335, OMIM:602995, RefSeq DNA:NT_011362, RefSeq Protein:NP_001027459, RefSeq Protein:NP_068823, RefSeq Protein:NP_071887, RefSeq Protein:NP_954595, RefSeq RNA:NM_001032288, RefSeq RNA:NM_021988, RefSeq RNA:NM_022442, RefSeq RNA:NM_199144, UCSC Genome Browser:NM_003349, UniProtKB:Q13404 No chr20 48697661 48732496 50081124 50115959 +PA38168 170556 HGNC:16581 ENSG00000226632 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1 UBE2V1P1 dJ687F11.3 Yes No Ensembl:ENSG00000226632, GenAtlas:UBE2V1P1, GeneCard:UBE2V1P1, HGNC:HGNC:16581, NCBI Gene:170556, RefSeq DNA:NG_001061, RefSeq DNA:NT_011387 No chr20 3341131 3342993 3360484 3362346 +PA37143 7336 HGNC:12495 ENSG00000169139 ubiquitin conjugating enzyme E2 V2 UBE2V2 ubiquitin-conjugating enzyme E2 variant 2 DDVIT1, DDVit-1, EDAF-1, EDPF-1, EDPF1, MMS2, UEV-2, UEV2 Yes No Comparative Toxicogenomics Database:7336, Ensembl:ENSG00000169139, GenAtlas:UBE2V2, GeneCard:UBE2V2, HGNC:HGNC:12495, HumanCyc Gene:HS09889, ModBase:Q15819, NCBI Gene:7336, OMIM:603001, RefSeq DNA:NT_008183, RefSeq Protein:NP_003341, RefSeq RNA:NM_003350, UCSC Genome Browser:NM_003350, UniProtKB:A0M8W4, UniProtKB:Q15819 No chr8 48920966 48977268 47997527 48063545 +PA142670657 55284 HGNC:25616 ENSG00000104343 ubiquitin conjugating enzyme E2 W UBE2W E2 ubiquitin-conjugating enzyme W, N-terminal E2 ubiquitin-conjugating enzyme, N-terminus-conjugating E2, Ubiquitin carrier protein W, Ubiquitin-conjugating enzyme 16, Ubiquitin-protein ligase W, ubiquitin-conjugating enzyme E2W (putative) FLJ11011, UBC-16 Yes No Comparative Toxicogenomics Database:55284, Ensembl:ENSG00000104343, GeneCard:UBE2W, HGNC:HGNC:25616, HumanCyc Gene:HS11901, ModBase:Q96B02, NCBI Gene:55284, RefSeq DNA:NT_008183, RefSeq Protein:NP_001001481, RefSeq Protein:NP_060769, RefSeq RNA:NM_001001481, RefSeq RNA:NM_018299, UniProtKB:Q1XBE0, UniProtKB:Q96B02 No chr8 74692332 74791145 73780097 73878910 +PA142670658 619457 HGNC:32198 ENSG00000234422 ubiquitin-conjugating enzyme E2W pseudogene 1 UBE2WP1 Yes No Ensembl:ENSG00000234422, HGNC:HGNC:32198, NCBI Gene:619457 No chr1 96884129 96884478 96418592 96418913 +PA142670659 65264 HGNC:25847 ENSG00000159202 ubiquitin conjugating enzyme E2 Z UBE2Z UBA6-specific enzyme E2, ubiquitin-conjugating enzyme E2Z FLJ13855, USE1 Yes No Comparative Toxicogenomics Database:65264, Ensembl:ENSG00000159202, GeneCard:UBE2Z, HGNC:HGNC:25847, HumanCyc Gene:HS11907, ModBase:Q9H832, NCBI Gene:65264, OMIM:611362, RefSeq DNA:NT_010783, RefSeq Protein:NP_075567, RefSeq RNA:NM_023079, UniProtKB:Q9H832 No chr17 46985731 47006422 48908369 48929060 +PA37144 7337 HGNC:12496 ENSG00000114062 ubiquitin protein ligase E3A UBE3A Angelman syndrome ANCR, AS, E6-AP, EPVE6AP, FLJ26981, HPVE6A Yes No Comparative Toxicogenomics Database:7337, Ensembl:ENSG00000114062, GenAtlas:UBE3A, GeneCard:UBE3A, HGNC:HGNC:12496, HumanCyc Gene:HS03737, ModBase:Q9UEP9, NCBI Gene:7337, OMIM:105830, OMIM:601623, RefSeq DNA:NG_002690, RefSeq DNA:NG_009268, RefSeq DNA:NT_026446, RefSeq Protein:NP_000453, RefSeq Protein:NP_570853, RefSeq Protein:NP_570854, RefSeq RNA:NM_000462, RefSeq RNA:NM_130838, RefSeq RNA:NM_130839, UCSC Genome Browser:NM_000462, UniProtKB:Q05086, UniProtKB:Q9BUI6, UniProtKB:Q9H2G0 No chr15 25582394 25684190 25337234 25439086 +PA37145 7338 HGNC:12497 ubiquitin protein ligase E3A pseudogene 1 UBE3AP1 Yes No GenAtlas:UBE3AP1, GeneCard:UBE3AP1, HGNC:HGNC:12497, NCBI Gene:7338, RefSeq DNA:NG_002381, RefSeq DNA:NT_022171 No chr2 98021380 98021916 97351783 97352319 +PA37146 7339 HGNC:12498 ENSG00000228941 ubiquitin protein ligase E3A pseudogene 2 UBE3AP2 Yes No Ensembl:ENSG00000228941, GenAtlas:UBE3AP2, GeneCard:UBE3AP2, HGNC:HGNC:12498, NCBI Gene:7339, RefSeq DNA:NG_001210, RefSeq DNA:NT_011512 No chr21 32432339 32435486 31059996 31063168 +PA134872189 89910 HGNC:13478 ENSG00000151148 ubiquitin protein ligase E3B UBE3B Yes No Ensembl:ENSG00000151148, GeneCard:UBE3B, HGNC:HGNC:13478, HumanCyc Gene:HS07710, NCBI Gene:89910, OMIM:608047, RefSeq DNA:NT_009775, RefSeq Protein:NP_569733, RefSeq Protein:NP_904324, RefSeq RNA:NM_130466, RefSeq RNA:NM_183415, UniProtKB:Q7Z3V4 No chr12 109915215 109974510 109477410 109543628 +PA134905339 9690 HGNC:16803 ENSG00000009335 ubiquitin protein ligase E3C UBE3C KIAA0010, KIAA10 Yes No Ensembl:ENSG00000009335, GeneCard:UBE3C, HGNC:HGNC:16803, HumanCyc Gene:HS00261, NCBI Gene:9690, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_055486, RefSeq RNA:NM_014671, UniProtKB:Q15386 No chr7 156931655 157062066 157138952 157269372 +PA162407873 90025 HGNC:21381 ENSG00000118420 ubiquitin protein ligase E3D UBE3D UBCH10 binding protein with a hect-like domain C6orf157, DKFZp434A1520, H10BH, UBE2CBP, YJR141W Yes No Ensembl:ENSG00000118420, GeneCard:UBE2CBP, HGNC:HGNC:21381, ModBase:Q7Z6J8, NCBI Gene:90025, OMIM:612495, RefSeq DNA:NT_007299, RefSeq Protein:NP_944602, RefSeq RNA:NM_198920, UniProtKB:Q7Z6J8 No chr6 83602186 83775545 82880834 83065841 +PA37147 9354 HGNC:12499 ENSG00000110344 ubiquitination factor E4A UBE4A E4, KIAA0126, UBOX2, UFD2 Yes No Comparative Toxicogenomics Database:9354, Ensembl:ENSG00000110344, GenAtlas:UBE4A, GeneCard:UBE4A, HGNC:HGNC:12499, HumanCyc Gene:HS03302, ModBase:Q14139, NCBI Gene:9354, OMIM:603753, RefSeq DNA:NT_033899, RefSeq Protein:NP_001191006, RefSeq Protein:NP_004779, RefSeq RNA:NM_001204077, RefSeq RNA:NM_004788, UCSC Genome Browser:NM_004788, UniProtKB:Q14139 No chr11 118230296 118269926 118359581 118399211 +PA37148 10277 HGNC:12500 ENSG00000130939 ubiquitination factor E4B UBE4B E4, KIAA0684, UBOX3, UFD2 Yes No Comparative Toxicogenomics Database:10277, Ensembl:ENSG00000130939, GenAtlas:UBE4B, GeneCard:UBE4B, HGNC:HGNC:12500, HumanCyc Gene:HS13359, ModBase:O95155, NCBI Gene:10277, RefSeq DNA:NT_021937, RefSeq Protein:NP_001099032, RefSeq Protein:NP_006039, RefSeq RNA:NM_001105562, RefSeq RNA:NM_006048, UCSC Genome Browser:NM_006048, UniProtKB:O95155 No chr1 10093041 10241297 10032983 10181239 +PA162407893 56061 HGNC:30565 ENSG00000103353 ubiquitin family domain containing 1 UBFD1 ubiquitin-binding protein homolog FLJ38870, FLJ42145, UBPH Yes No Ensembl:ENSG00000103353, GeneCard:UBFD1, HGNC:HGNC:30565, HumanCyc Gene:HS12523, ModBase:O14562, NCBI Gene:56061, RefSeq DNA:NT_010393, RefSeq Protein:NP_061989, RefSeq RNA:NM_019116, UniProtKB:A8MW58 No chr16 23568856 23585710 23557535 23574393 +PA142670660 29914 HGNC:30791 ENSG00000120942 UbiA prenyltransferase domain containing 1 UBIAD1 transitional epithelia response protein SCCD, TERE1 Yes No Comparative Toxicogenomics Database:29914, Ensembl:ENSG00000120942, GeneCard:UBIAD1, HGNC:HGNC:30791, HumanCyc Gene:HS04454, ModBase:Q9Y5Z9, NCBI Gene:29914, OMIM:121800, OMIM:611632, RefSeq DNA:NG_009443, RefSeq DNA:NT_021937, RefSeq Protein:NP_037451, RefSeq RNA:NM_013319, UniProtKB:Q9Y5Z9 No chr1 11333255 11348491 11273198 11299578 +PA37151 5412 HGNC:12504 ENSG00000122042 ubiquitin like 3 UBL3 ubiquitin-like 3 DKFZP434K151, FLJ32018, HCG-1, PNSC1 Yes No Comparative Toxicogenomics Database:5412, Ensembl:ENSG00000122042, GenAtlas:UBL3, GeneCard:UBL3, HGNC:HGNC:12504, HumanCyc Gene:HS13038, ModBase:O95164, NCBI Gene:5412, OMIM:604711, RefSeq DNA:NT_024524, RefSeq Protein:NP_009037, RefSeq RNA:NM_007106, UCSC Genome Browser:NM_007106, UniProtKB:B2R4J1, UniProtKB:O95164 No chr13 30338545 30424820 29764408 29850683 +PA37152 8266 HGNC:12505 ENSG00000102178 ubiquitin like 4A UBL4A ubiquitin-like 4A DXS254E, GDX, GET5, MDY2, TMA24, UBL4 Yes No Comparative Toxicogenomics Database:8266, Ensembl:ENSG00000102178, GenAtlas:UBL4A, GeneCard:UBL4A, HGNC:HGNC:12505, HumanCyc Gene:HS02364, ModBase:P11441, NCBI Gene:8266, OMIM:312070, RefSeq DNA:NT_167198, RefSeq Protein:NP_055050, RefSeq RNA:NM_014235, UCSC Genome Browser:NM_014235, UniProtKB:P11441 No chrX 153712056 153714932 154483717 154486670 +PA142670661 164153 HGNC:32309 ENSG00000186150 ubiquitin like 4B UBL4B ubiquitin-like 4B FLJ25690 Yes No Ensembl:ENSG00000186150, GeneCard:UBL4B, HGNC:HGNC:32309, ModBase:Q8N7F7, NCBI Gene:164153, OMIM:611127, RefSeq DNA:NT_032977, RefSeq Protein:NP_981957, RefSeq RNA:NM_203412, UniProtKB:Q8N7F7 No chr1 110655062 110656569 110112440 110113947 +PA37805 59286 HGNC:13736 ENSG00000198258 ubiquitin like 5 UBL5 ubiquitin-like 5 Yes No Comparative Toxicogenomics Database:59286, Ensembl:ENSG00000198258, GenAtlas:UBL5, GeneCard:UBL5, HGNC:HGNC:13736, ModBase:Q9BZL1, NCBI Gene:59286, OMIM:606849, RefSeq DNA:NT_011295, RefSeq Protein:NP_001041706, RefSeq Protein:NP_077268, RefSeq RNA:NM_001048241, RefSeq RNA:NM_024292, UCSC Genome Browser:NM_024292, UniProtKB:Q9BZL1 No chr19 9938556 9940797 9827880 9830121 +PA142670645 84993 HGNC:28221 ENSG00000138629 ubiquitin like 7 UBL7 bone marrow stromal cell-derived ubiquitin-like, ubiquitin-like 7, ubiquitin-like 7 (bone marrow stromal cell-derived), ubiquitin-like protein SB132 BMSC-UbP, MGC14421 Yes No Comparative Toxicogenomics Database:84993, Ensembl:ENSG00000138629, GeneCard:UBL7, HGNC:HGNC:28221, HumanCyc Gene:HS06522, ModBase:Q96S82, NCBI Gene:84993, OMIM:609748, RefSeq DNA:NT_010194, RefSeq Protein:NP_116296, RefSeq Protein:NP_957717, RefSeq RNA:NM_032907, RefSeq RNA:NM_201265, UniProtKB:Q96S82 No chr15 74738318 74753545 74445977 74461188 +PA142670646 134510 HGNC:28110 ENSG00000164332 ubiquitin like domain containing CTD phosphatase 1 UBLCP1 CTD phosphatase-like with ubiquitin domain 1, ubiquitin-like domain containing CTD phosphatase 1 CPUB1, MGC10067 Yes No Comparative Toxicogenomics Database:134510, Ensembl:ENSG00000164332, GeneCard:UBLCP1, HGNC:HGNC:28110, HumanCyc Gene:HS09065, ModBase:Q8WVY7, NCBI Gene:134510, OMIM:609867, RefSeq DNA:NT_023133, RefSeq Protein:NP_659486, RefSeq RNA:NM_145049, UniProtKB:Q8WVY7 No chr5 158690089 158713048 159263081 159286040 +PA37153 29855 HGNC:12506 ENSG00000118900 ubinuclein 1 UBN1 Yes No Comparative Toxicogenomics Database:29855, Ensembl:ENSG00000118900, GenAtlas:UBN1, GeneCard:UBN1, HGNC:HGNC:12506, HumanCyc Gene:HS04258, ModBase:Q9NPG3, NCBI Gene:29855, OMIM:609771, RefSeq DNA:NT_010393, RefSeq Protein:NP_001072982, RefSeq Protein:NP_058632, RefSeq RNA:NM_001079514, RefSeq RNA:NM_016936, UCSC Genome Browser:NM_016936, UniProtKB:Q9NPG3 No chr16 4896666 4932363 4846665 4882401 +PA164727415 254048 HGNC:21931 ENSG00000157741 ubinuclein 2 UBN2 FLJ25778, KIAA2030 Yes No Ensembl:ENSG00000157741, GeneCard:UBN2, HGNC:HGNC:21931, HumanCyc Gene:HS14675, NCBI Gene:254048, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_775840, RefSeq RNA:NM_173569, UniProtKB:Q6ZU65 No chr7 138915978 138992982 139229565 139329421 +PA134991794 22888 HGNC:17777 ENSG00000185019 U-box domain containing 5 UBOX5 KIAA0860, RNF37, UIP5, Ubce7ip5 Yes No Comparative Toxicogenomics Database:22888, Ensembl:ENSG00000185019, GeneCard:UBOX5, HGNC:HGNC:17777, HumanCyc Gene:HS04943, ModBase:O94941, NCBI Gene:22888, RefSeq DNA:NT_011387, RefSeq Protein:NP_055763, RefSeq Protein:NP_955447, RefSeq RNA:NM_014948, RefSeq RNA:NM_199415, UniProtKB:O94941, UniProtKB:Q86X87 No chr20 3088219 3140556 3107573 3159910 +PA37154 7342 HGNC:12507 ENSG00000153560 upstream binding protein 1 UBP1 upstream binding protein 1 (LBP-1a) LBP-1a Yes No Comparative Toxicogenomics Database:7342, Ensembl:ENSG00000153560, GenAtlas:UBP1, GeneCard:UBP1, HGNC:HGNC:12507, HumanCyc Gene:HS07912, ModBase:Q9NZI7, NCBI Gene:7342, OMIM:609784, RefSeq DNA:NT_022517, RefSeq Protein:NP_001121632, RefSeq Protein:NP_001121633, RefSeq Protein:NP_055332, RefSeq RNA:NM_001128160, RefSeq RNA:NM_001128161, RefSeq RNA:NM_014517, UCSC Genome Browser:NM_014517, UniProtKB:A8KAN5, UniProtKB:Q9NZI7 No chr3 33429828 33481897 33388336 33440405 +PA37155 29979 HGNC:12508 ENSG00000135018 ubiquilin 1 UBQLN1 DSK2 homolog (yeast), Protein linking IAP with cytoskeleton 1 DA41, DSK2, PLIC-1, XDRP1 Yes No Comparative Toxicogenomics Database:29979, Ensembl:ENSG00000135018, GenAtlas:UBQLN1, GeneCard:UBQLN1, HGNC:HGNC:12508, HumanCyc Gene:HS13556, ModBase:Q9UMX0, NCBI Gene:29979, OMIM:605046, RefSeq DNA:NG_011519, RefSeq DNA:NT_008470, RefSeq Protein:NP_038466, RefSeq Protein:NP_444295, RefSeq RNA:NM_013438, RefSeq RNA:NM_053067, UCSC Genome Browser:NM_013438, UniProtKB:Q9UMX0 No chr9 86274878 86323168 83659963 83708253 +PA134984210 387117 HGNC:21633 ENSG00000236405 ubiquilin 1 pseudogene 1 UBQLN1P1 Yes No Ensembl:ENSG00000236405, HGNC:HGNC:21633, NCBI Gene:387117, RefSeq DNA:NG_011407 No chr6 30326371 30331888 30358594 30364111 +PA37156 29978 HGNC:12509 ENSG00000188021 ubiquilin 2 UBQLN2 NEDD4 binding protein 4 CHAP1/DSK2, Chap1, Dsk2, LIC-2, N4BP4, PLIC-2, PLIC2, RIHFB2157 Yes No Ensembl:ENSG00000188021, GenAtlas:UBQLN2, GeneCard:UBQLN2, HGNC:HGNC:12509, ModBase:Q9UHD9, NCBI Gene:29978, OMIM:300264, RefSeq DNA:NG_016249, RefSeq DNA:NT_011630, RefSeq Protein:NP_038472, RefSeq RNA:NM_013444, UCSC Genome Browser:NM_013444, UniProtKB:Q9UHD9 No chrX 56590025 56593443 56563593 56567010 +PA37157 50613 HGNC:12510 ENSG00000175520 ubiquilin 3 UBQLN3 TUP-1 Yes No Comparative Toxicogenomics Database:50613, Ensembl:ENSG00000175520, GenAtlas:UBQLN3, GeneCard:UBQLN3, HGNC:HGNC:12510, HumanCyc Gene:HS10945, ModBase:Q9H347, NCBI Gene:50613, OMIM:605473, RefSeq DNA:NT_009237, RefSeq Protein:NP_059509, RefSeq RNA:NM_017481, UCSC Genome Browser:NM_017481, UniProtKB:Q9H347 No chr11 5528530 5531153 5507300 5509993 +PA25619 56893 HGNC:1237 ENSG00000160803 ubiquilin 4 UBQLN4 Cx43-interacting protein of 75 kDa, ataxin-1 ubiquitin-like interacting protein A1U, C1orf6, CIP75, UBIN Yes No Comparative Toxicogenomics Database:56893, Ensembl:ENSG00000160803, GenAtlas:UBQLN4, GeneCard:UBQLN4, HGNC:HGNC:1237, HumanCyc Gene:HS14830, ModBase:Q9NRR5, NCBI Gene:56893, OMIM:605440, RefSeq DNA:NT_004487, RefSeq Protein:NP_064516, RefSeq RNA:NM_020131, UCSC Genome Browser:NM_020131, UniProtKB:Q9NRR5 No chr1 156002945 156023613 156035294 156053825 +PA134889659 285329 HGNC:31133 ENSG00000241627 ubiquilin 4 pseudogene 1 UBQLN4P1 C3orf12 Yes No Ensembl:ENSG00000241627, HGNC:HGNC:31133, NCBI Gene:285329, RefSeq DNA:NG_005662, RefSeq DNA:NT_005612, RefSeq Protein:XP_947084, RefSeq Protein:XP_950699, RefSeq RNA:XM_941991, RefSeq RNA:XM_945606 No chr3 148701962 148705477 148984184 148987750 +PA162407912 143630 HGNC:28294 ENSG00000175518 ubiquilin like UBQLNL ubiquilin-like MGC20470, MGC26958 Yes No Ensembl:ENSG00000175518, GeneCard:UBQLNL, HGNC:HGNC:28294, HumanCyc Gene:HS16470, ModBase:Q8IYU4, NCBI Gene:143630, RefSeq DNA:NT_009237, RefSeq Protein:NP_659490, RefSeq RNA:NM_145053, UniProtKB:Q8IYU4 No chr11 5535623 5537956 5514393 5516726 +PA38187 197131 HGNC:16808 ENSG00000159459 ubiquitin protein ligase E3 component n-recognin 1 UBR1 Yes No Comparative Toxicogenomics Database:197131, Ensembl:ENSG00000159459, GenAtlas:UBR1, GeneCard:UBR1, HGNC:HGNC:16808, HumanCyc Gene:HS08405, ModBase:Q8IWV7, NCBI Gene:197131, OMIM:243800, OMIM:605981, RefSeq DNA:NG_012182, RefSeq DNA:NT_010194, RefSeq Protein:NP_777576, RefSeq RNA:NM_174916, UCSC Genome Browser:NM_174916, UniProtKB:Q8IWV7 No chr15 43235095 43398286 42942897 43106088 +PA128394621 23304 HGNC:21289 ENSG00000024048 ubiquitin protein ligase E3 component n-recognin 2 UBR2 C6orf133, KIAA0349, bA49A4.1, dJ392M17.3 Yes No Comparative Toxicogenomics Database:23304, Ensembl:ENSG00000024048, GeneCard:UBR2, HGNC:HGNC:21289, HumanCyc Gene:HS12072, ModBase:Q8IWV8, NCBI Gene:23304, OMIM:609134, RefSeq DNA:NT_007592, RefSeq Protein:NP_001171730, RefSeq Protein:NP_056070, RefSeq RNA:NM_001184801, RefSeq RNA:NM_015255, UCSC Genome Browser:NM_015255, UniProtKB:Q8IWV8 No chr6 42531748 42661243 42563905 42693505 +PA162407919 130507 HGNC:30467 ENSG00000144357 ubiquitin protein ligase E3 component n-recognin 3 UBR3 ubiquitin protein ligase E3 component n-recognin 3 (putative) DKFZp434P117, FLJ37422, KIAA2024, ZNF650 Yes No Ensembl:ENSG00000144357, GeneCard:UBR3, HGNC:HGNC:30467, HumanCyc Gene:HS14017, NCBI Gene:130507, RefSeq DNA:NT_005403, RefSeq Protein:NP_742067, RefSeq RNA:NM_172070, UniProtKB:Q6ZT12 No chr2 170684010 170940641 169827463 170084131 +PA162407958 23352 HGNC:30313 ENSG00000127481 ubiquitin protein ligase E3 component n-recognin 4 UBR4 KIAA0462, KIAA1307, RBAF600, ZUBR1, p600 Yes No Ensembl:ENSG00000127481, GeneCard:UBR4, HGNC:HGNC:30313, HumanCyc Gene:HS05101, ModBase:Q9UG82, NCBI Gene:23352, OMIM:609890, RefSeq DNA:NT_004610, RefSeq Protein:NP_065816, RefSeq RNA:NM_020765, UniProtKB:Q5T4S7 No chr1 19401000 19536812 19074506 19210334 +PA162408175 51366 HGNC:16806 ENSG00000104517 ubiquitin protein ligase E3 component n-recognin 5 UBR5 DD5, EDD, EDD1, HYD, KIAA0896 Yes No Ensembl:ENSG00000104517, GeneCard:UBR5, HGNC:HGNC:16806, HumanCyc Gene:HS02590, ModBase:O95071, NCBI Gene:51366, OMIM:608413, RefSeq DNA:NT_008046, RefSeq Protein:NP_056986, RefSeq RNA:NM_015902, UniProtKB:O95071 No chr8 103264501 103424947 102252273 102412719 +PA162408298 55148 HGNC:20344 ENSG00000012963 ubiquitin protein ligase E3 component n-recognin 7 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) C14orf130 Yes No Ensembl:ENSG00000012963, GeneCard:UBR7, HGNC:HGNC:20344, HumanCyc Gene:HS12047, ModBase:Q8N806, NCBI Gene:55148, RefSeq DNA:NT_026437, RefSeq Protein:NP_001093887, RefSeq Protein:NP_786924, RefSeq RNA:NM_001100417, RefSeq RNA:NM_175748, RefSeq RNA:NR_038150, UniProtKB:Q05DA8, UniProtKB:Q8N806 No chr14 93673401 93695561 93207056 93229215 +PA134976337 80019 HGNC:25683 ENSG00000165886 ubiquitin domain containing 1 UBTD1 FLJ11807 Yes No Comparative Toxicogenomics Database:80019, Ensembl:ENSG00000165886, GeneCard:UBTD1, HGNC:HGNC:25683, HumanCyc Gene:HS15377, ModBase:Q9HAC8, NCBI Gene:80019, RefSeq DNA:NT_030059, RefSeq Protein:NP_079230, RefSeq RNA:NM_024954, UniProtKB:Q9HAC8 No chr10 99258768 99330960 97498882 97571210 +PA162408325 92181 HGNC:24463 ENSG00000168246 ubiquitin domain containing 2 UBTD2 dendritic cell derived ubiquitin like protein DC-UbP, MGC30022 Yes No Ensembl:ENSG00000168246, GeneCard:UBTD2, HGNC:HGNC:24463, HumanCyc Gene:HS15650, ModBase:Q8WUN7, NCBI Gene:92181, OMIM:610174, RefSeq DNA:NT_023133, RefSeq Protein:NP_689490, RefSeq RNA:NM_152277, UniProtKB:B3KMW8, UniProtKB:Q8WUN7 No chr5 171636648 171710795 172209645 172283797 +PA37158 7343 HGNC:12511 ENSG00000108312 upstream binding transcription factor UBTF upstream binding transcription factor, RNA polymerase I NOR-90, UBF, UBF1, UBF2 Yes No Comparative Toxicogenomics Database:7343, Ensembl:ENSG00000108312, GenAtlas:UBTF, GeneCard:UBTF, HGNC:HGNC:12511, HumanCyc Gene:HS03087, ModBase:P17480, NCBI Gene:7343, OMIM:600673, RefSeq DNA:NT_010783, RefSeq Protein:NP_001070151, RefSeq Protein:NP_001070152, RefSeq Protein:NP_055048, RefSeq RNA:NM_001076683, RefSeq RNA:NM_001076684, RefSeq RNA:NM_014233, UCSC Genome Browser:NM_014233, UniProtKB:P17480 No chr17 42282401 42298994 44205033 44221626 +PA164727456 642623 HGNC:14533 ENSG00000255009 upstream binding transcription factor like 1 UBTFL1 upstream binding transcription factor, RNA polymerase I-like 1 C11orf27 Yes No Ensembl:ENSG00000255009, GeneCard:UBTFL1, HGNC:HGNC:14533, NCBI Gene:642623, RefSeq DNA:NT_167190, RefSeq Protein:NP_001137447, RefSeq RNA:NM_001143975, UniProtKB:P0CB47 No chr11 89819118 89820299 90085950 90087131 +PA164727462 120126 HGNC:35169 ENSG00000234376 upstream binding transcription factor, RNA polymerase I-like 2 (pseudogene) UBTFL2 Yes No Ensembl:ENSG00000234376, GeneCard:UBTFL2, HGNC:HGNC:35169, NCBI Gene:120126, RefSeq DNA:NG_012230, RefSeq DNA:NT_167190, RefSeq Protein:NP_001094791, RefSeq RNA:NM_001101321 No chr11 89486180 89487148 89753012 89753980 +PA164727463 129870 HGNC:35402 ENSG00000204699 upstream binding transcription factor, RNA polymerase I-like 3 (pseudogene) UBTFL3 Yes No Ensembl:ENSG00000204699, GeneCard:UBTFL3, HGNC:HGNC:35402, NCBI Gene:129870, RefSeq DNA:NG_023214, RefSeq DNA:NT_022171, RefSeq Protein:XP_065445, RefSeq RNA:XM_065445 No chr2 96290998 96292152 95625250 95626404 +PA164727472 728231 HGNC:35405 ENSG00000204705 upstream binding transcription factor, RNA polymerase I-like 5 (pseudogene) UBTFL5 Yes No Ensembl:ENSG00000204705, GeneCard:UBTFL5, HGNC:HGNC:35405, NCBI Gene:728231, RefSeq DNA:NG_023413, RefSeq DNA:NT_022171, RefSeq Protein:XP_001714393, RefSeq RNA:XM_001714341 No chr2 96116053 96117234 95450305 95451486 +PA164727481 643615 HGNC:35406 ENSG00000228970 upstream binding transcription factor, RNA polymerase I-like 6 (pseudogene) UBTFL6 Yes No Ensembl:ENSG00000228970, GeneCard:UBTFL6, HGNC:HGNC:35406, NCBI Gene:643615, RefSeq DNA:NT_022171, RefSeq Protein:XP_001714948, RefSeq Protein:XP_001715869, RefSeq Protein:XP_002348328, RefSeq RNA:XM_001714896, RefSeq RNA:XM_001715817, RefSeq RNA:XM_002348287, UniProtKB:P0CB48 No chr2 98253048 98254228 97636585 97637765 +PA162408336 51035 HGNC:18402 ENSG00000162191 UBX domain protein 1 UBXN1 SAPK substrate protein 1 2B28, LOC51035, SAKS1, UBXD10 Yes No Ensembl:ENSG00000162191, GeneCard:UBXN1, HGNC:HGNC:18402, HumanCyc Gene:HS14901, ModBase:Q04323, NCBI Gene:51035, RefSeq DNA:NT_167190, RefSeq Protein:NP_056937, RefSeq RNA:NM_015853, UniProtKB:Q04323 No chr11 62443972 62446554 62676498 62679117 +PA162408337 127733 HGNC:26354 ENSG00000162543 UBX domain protein 10 UBXN10 FLJ25429, UBXD3 Yes No Ensembl:ENSG00000162543, GeneCard:UBXN10, HGNC:HGNC:26354, HumanCyc Gene:HS14933, ModBase:Q96LJ8, NCBI Gene:127733, RefSeq DNA:NT_004610, RefSeq Protein:NP_689589, RefSeq RNA:NM_152376, UniProtKB:Q96LJ8 No chr1 20512578 20522540 20183106 20196060 +PA162408338 91544 HGNC:30600 ENSG00000158062 UBX domain protein 11 UBXN11 socius SOC, SOCI, UBXD5 Yes No Ensembl:ENSG00000158062, GeneCard:UBXN11, HGNC:HGNC:30600, HumanCyc Gene:HS14694, ModBase:Q8NFE6, NCBI Gene:91544, OMIM:609151, RefSeq DNA:NT_004610, RefSeq Protein:NP_001070730, RefSeq Protein:NP_663320, RefSeq Protein:NP_892120, RefSeq RNA:NM_001077262, RefSeq RNA:NM_145345, RefSeq RNA:NM_183008, UniProtKB:Q5T124 No chr1 26608773 26644756 26282282 26318265 +PA162408375 165324 HGNC:27265 ENSG00000173960 UBX domain protein 2A UBXN2A UBXD4 Yes No Ensembl:ENSG00000173960, GeneCard:UBXN2A, HGNC:HGNC:27265, ModBase:P68543, NCBI Gene:165324, RefSeq DNA:NT_022184, RefSeq Protein:NP_859064, RefSeq RNA:NM_181713, UniProtKB:P68543 No chr2 24150132 24223701 23927201 24001000 +PA162408394 137886 HGNC:27035 ENSG00000215114 UBX domain protein 2B UBXN2B p37 Yes No Ensembl:ENSG00000215114, GeneCard:UBXN2B, HGNC:HGNC:27035, ModBase:Q14CS0, NCBI Gene:137886, OMIM:610686, RefSeq DNA:NT_008183, RefSeq Protein:NP_001071087, RefSeq RNA:NM_001077619, UniProtKB:Q14CS0 No chr8 59323823 59364060 58411264 58451508 +PA37912 23190 HGNC:14860 ENSG00000144224 UBX domain protein 4 UBXN4 erasin KIAA0242, UBXD2, UBXDC1 Yes No Ensembl:ENSG00000144224, GenAtlas:UBXD2, GeneCard:UBXD2, GeneCard:UBXN4, HGNC:HGNC:14860, HumanCyc Gene:HS14010, NCBI Gene:23190, OMIM:611216, RefSeq DNA:NT_022135, RefSeq Protein:NP_055422, RefSeq RNA:NM_014607, UCSC Genome Browser:NM_014607, UniProtKB:Q92575 No chr2 136499189 136542633 135741619 135785063 +PA162408446 80700 HGNC:14928 ENSG00000167671 UBX domain protein 6 UBXN6 UBXD1, UBXDC2 Yes No Ensembl:ENSG00000167671, GeneCard:UBXN6, HGNC:HGNC:14928, HumanCyc Gene:HS09605, ModBase:Q9BZV1, NCBI Gene:80700, OMIM:611946, RefSeq DNA:NT_011255, RefSeq Protein:NP_001164562, RefSeq Protein:NP_079517, RefSeq RNA:NM_001171091, RefSeq RNA:NM_025241, UniProtKB:Q9BZV1 No chr19 4445003 4457791 4445006 4458759 +PA162408447 26043 HGNC:29119 ENSG00000163960 UBX domain protein 7 UBXN7 KIAA0794, UBXD7 Yes No Ensembl:ENSG00000163960, GeneCard:UBXN7, HGNC:HGNC:29119, ModBase:O94888, NCBI Gene:26043, RefSeq DNA:NT_029928, RefSeq Protein:NP_056377, RefSeq RNA:NM_015562, UniProtKB:O94888 No chr3 196079745 196159411 196347659 196454323 +PA162408474 7993 HGNC:30307 ENSG00000104691 UBX domain protein 8 UBXN8 D8S2298E, REP8, UBXD6 Yes No Ensembl:ENSG00000104691, GeneCard:UBXN8, HGNC:HGNC:30307, HumanCyc Gene:HS02604, ModBase:O00124, NCBI Gene:7993, OMIM:602155, RefSeq DNA:NT_167187, RefSeq Protein:NP_005662, RefSeq RNA:NM_005671, UniProtKB:O00124 No chr8 30601690 30624522 30729131 30767006 +PA165394504 652995 HGNC:37126 ENSG00000214049 urothelial cancer associated 1 (non-protein coding) UCA1 cancer up-regulated drug resistant, long intergenic non-protein coding RNA 178 CUDR, LINC00178 Yes No Ensembl:ENSG00000214049, GeneCard:UCA1, HGNC:HGNC:37126, NCBI Gene:652995, RefSeq DNA:NT_011295, RefSeq RNA:NR_015379 No chr19 15939757 15947131 15828947 15836321 +PA37160 7345 HGNC:12513 ENSG00000154277 ubiquitin C-terminal hydrolase L1 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase), ubiquitin thiolesterase PARK5, PGP9.5, UCHL-1, Uch-L1 Yes No Comparative Toxicogenomics Database:7345, Ensembl:ENSG00000154277, GenAtlas:UCHL1, GeneCard:UCHL1, HGNC:HGNC:12513, HumanCyc Gene:HS07970, ModBase:P09936, NCBI Gene:7345, OMIM:168600, OMIM:191342, RefSeq DNA:NG_012931, RefSeq DNA:NT_006238, RefSeq Protein:NP_004172, RefSeq RNA:NM_004181, UCSC Genome Browser:NM_004181, UniProtKB:P09936 No chr4 41258898 41270446 41256881 41268429 +PA37162 7347 HGNC:12515 ENSG00000118939 ubiquitin C-terminal hydrolase L3 UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase), ubiquitin thiolesterase Yes No Ensembl:ENSG00000118939, GenAtlas:UCHL3, GeneCard:UCHL3, HGNC:HGNC:12515, HumanCyc Gene:HS04261, ModBase:P15374, NCBI Gene:7347, OMIM:603090, RefSeq DNA:NT_024524, RefSeq Protein:NP_005993, RefSeq RNA:NM_006002, UCSC Genome Browser:NM_006002, UniProtKB:P15374 No chr13 76123616 76180156 75549480 75606020 +PA134916228 51377 HGNC:19678 ENSG00000116750 ubiquitin C-terminal hydrolase L5 UCHL5 INO80 complex subunit R, ubiquitin carboxyl-terminal hydrolase L5 CGI-70, INO80R, UCH37 Yes No Comparative Toxicogenomics Database:51377, Ensembl:ENSG00000116750, GeneCard:UCHL5, HGNC:HGNC:19678, HumanCyc Gene:HS04047, ModBase:Q9Y5K5, NCBI Gene:51377, OMIM:610667, RefSeq DNA:NT_004487, RefSeq Protein:NP_001186190, RefSeq Protein:NP_001186191, RefSeq Protein:NP_001186192, RefSeq Protein:NP_057068, RefSeq RNA:NM_001199261, RefSeq RNA:NM_001199262, RefSeq RNA:NM_001199263, RefSeq RNA:NM_015984, RefSeq RNA:NR_037607, UniProtKB:Q9Y5K5 No chr1 192981496 193029237 193012366 193060140 +PA134861770 83549 HGNC:14859 ENSG00000130717 uridine-cytidine kinase 1 UCK1 FLJ12255, URK1 Yes No Comparative Toxicogenomics Database:83549, Ensembl:ENSG00000130717, GeneCard:UCK1, HGNC:HGNC:14859, HumanCyc Gene:HS05429, ModBase:Q9HA47, NCBI Gene:83549, OMIM:609328, RefSeq DNA:NT_035014, RefSeq Protein:NP_001129426, RefSeq Protein:NP_113620, RefSeq RNA:NM_001135954, RefSeq RNA:NM_031432, UniProtKB:Q5JT13, UniProtKB:Q9HA47 No chr9 134399183 134406662 131523796 131531275 +PA362 7371 HGNC:12562 ENSG00000143179 uridine-cytidine kinase 2 UCK2 UMPK Yes No Comparative Toxicogenomics Database:7371, Ensembl:ENSG00000143179, GenAtlas:UCK2, GeneCard:UCK2, HGNC:HGNC:12562, HumanCyc Gene:HS07003, ModBase:Q9BZX2, NCBI Gene:7371, OMIM:609329, RefSeq DNA:NT_004487, RefSeq Protein:NP_036606, RefSeq RNA:NM_012474, UCSC Genome Browser:NM_012474, UniProtKB:Q9BZX2 No chr1 165796732 165880855 165827495 165911618 +PA38058 54963 HGNC:15938 ENSG00000198276 uridine-cytidine kinase 1 like 1 UCKL1 uridine-cytidine kinase 1-like 1 FLJ20517, URKL1 Yes No Ensembl:ENSG00000198276, GenAtlas:UCKL1, GeneCard:UCKL1, HGNC:HGNC:15938, HumanCyc Gene:HS02204, ModBase:Q9NWZ5, NCBI Gene:54963, OMIM:610866, RefSeq DNA:NT_011333, RefSeq Protein:NP_001180308, RefSeq Protein:NP_060329, RefSeq RNA:NM_001193379, RefSeq RNA:NM_017859, UCSC Genome Browser:NM_017859, UniProtKB:Q9NWZ5 No chr20 62571182 62587800 63939829 63959435 +PA165392723 100113386 HGNC:31967 ENSG00000280213 UCKL1 antisense RNA 1 UCKL1-AS1 FLJ46647 Yes No Ensembl:ENSG00000280213, GeneCard:UCKL1AS, HGNC:HGNC:31967, NCBI Gene:100113386, RefSeq DNA:NT_011333, RefSeq Protein:XP_001724430, RefSeq Protein:XP_001724456, RefSeq Protein:XP_001724749, RefSeq RNA:NR_027287, RefSeq RNA:XM_001724378, RefSeq RNA:XM_001724404, RefSeq RNA:XM_001724697, UniProtKB:Q6ZR49 No chr20 62584737 62588338 63953384 63956985 +PA164727494 221044 HGNC:25205 ENSG00000165623 upper zone of growth plate and cartilage matrix associated UCMA Gla-rich protein C10orf49, GRP Yes No Ensembl:ENSG00000165623, GeneCard:UCMA, HGNC:HGNC:25205, HumanCyc Gene:HS15344, NCBI Gene:221044, RefSeq DNA:NT_008705, RefSeq DNA:NT_077569, RefSeq Protein:NP_660357, RefSeq RNA:NM_145314, UniProtKB:Q8WVF2 No chr10 13263771 13276331 13221766 13234328 +PA37163 7349 HGNC:12516 ENSG00000163794 urocortin UCN prepro-urocortin UCN1, UI, UROC Yes No Ensembl:ENSG00000163794, GenAtlas:UCN, GeneCard:UCN, HGNC:HGNC:12516, HumanCyc Gene:HS08937, ModBase:P55089, NCBI Gene:7349, OMIM:600945, RefSeq DNA:NT_022184, RefSeq Protein:NP_003344, RefSeq RNA:NM_003353, UCSC Genome Browser:NM_003353, UniProtKB:P55089 No chr2 27530265 27531130 27307400 27308445 +PA133787055 90226 HGNC:18414 ENSG00000145040 urocortin 2 UCN2 prepro-urocortin 2 SRP, UCN-II, UCNI, URP Yes No Comparative Toxicogenomics Database:90226, Ensembl:ENSG00000145040, GeneCard:UCN2, HGNC:HGNC:18414, HumanCyc Gene:HS07225, ModBase:Q96RP3, NCBI Gene:90226, OMIM:605902, RefSeq DNA:NT_022517, RefSeq Protein:NP_149976, RefSeq RNA:NM_033199, UniProtKB:Q96RP3 No chr3 48599151 48601201 48561718 48563768 +PA130413153 114131 HGNC:17781 ENSG00000178473 urocortin 3 UCN3 prepro-urocortin 3, stresscopin SPC, UCNIII Yes No Ensembl:ENSG00000178473, GeneCard:UCN3, HGNC:HGNC:17781, HumanCyc Gene:HS11290, NCBI Gene:114131, OMIM:605901, RefSeq DNA:NT_008705, RefSeq Protein:NP_444277, RefSeq RNA:NM_053049, UCSC Genome Browser:NM_053049, UniProtKB:Q969E3 No chr10 5406976 5416169 5365013 5374206 +PA37164 7350 HGNC:12517 ENSG00000109424 uncoupling protein 1 UCP1 uncoupling protein 1 (mitochondrial, proton carrier) SLC25A7, UCP Yes No Comparative Toxicogenomics Database:7350, Ensembl:ENSG00000109424, GenAtlas:UCP1, GeneCard:UCP1, HGNC:HGNC:12517, HumanCyc Gene:HS03224, ModBase:P25874, NCBI Gene:7350, OMIM:113730, OMIM:601665, RefSeq DNA:NG_012139, RefSeq DNA:NT_016354, RefSeq Protein:NP_068605, RefSeq RNA:NM_021833, UCSC Genome Browser:NM_021833, UniProtKB:P25874 No chr4 141481014 141489989 140555770 140568914 +PA37165 7351 HGNC:12518 ENSG00000175567 uncoupling protein 2 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) BMIQ4, SLC25A8 Yes Yes Comparative Toxicogenomics Database:7351, Ensembl:ENSG00000175567, GenAtlas:UCP2, GeneCard:UCP2, HGNC:HGNC:12518, HumanCyc Gene:HS10953, ModBase:P55851, NCBI Gene:7351, OMIM:601665, OMIM:601693, OMIM:606641, OMIM:607447, RefSeq DNA:NG_011478, RefSeq DNA:NT_167190, RefSeq Protein:NP_003346, RefSeq RNA:NM_003355, UCSC Genome Browser:NM_003355, UniProtKB:P55851 No chr11 73685716 73693889 73974671 73982844 +PA37166 7352 HGNC:12519 ENSG00000175564 uncoupling protein 3 UCP3 uncoupling protein 3 (mitochondrial, proton carrier) SLC25A9 Yes Yes Comparative Toxicogenomics Database:7352, Ensembl:ENSG00000175564, GenAtlas:UCP3, GeneCard:UCP3, HGNC:HGNC:12519, HumanCyc Gene:HS10952, ModBase:P55916, NCBI Gene:7352, OMIM:601665, OMIM:602044, RefSeq DNA:NG_011515, RefSeq DNA:NT_167190, RefSeq Protein:NP_003347, RefSeq Protein:NP_073714, RefSeq RNA:NM_003356, RefSeq RNA:NM_022803, UCSC Genome Browser:NM_003356, UniProtKB:P55916 No chr11 73711326 73720282 74000281 74009237 +PA147357188 55293 HGNC:30866 ENSG00000151116 UEV and lactate/malate dehyrogenase domains UEVLD Attp, UEV3 Yes No Ensembl:ENSG00000151116, GeneCard:UEVLD, HGNC:HGNC:30866, HumanCyc Gene:HS07708, ModBase:Q8IX04, NCBI Gene:55293, OMIM:610985, RefSeq DNA:NT_009237, RefSeq Protein:NP_001035787, RefSeq Protein:NP_060784, RefSeq RNA:NM_001040697, RefSeq RNA:NM_018314, UniProtKB:Q8IX04 No chr11 18551156 18610293 18529609 18588837 +PA142670644 51506 HGNC:26941 ENSG00000143222 ubiquitin-fold modifier conjugating enzyme 1 UFC1 HSPC155 Yes No Ensembl:ENSG00000143222, GeneCard:UFC1, HGNC:HGNC:26941, HumanCyc Gene:HS13956, NCBI Gene:51506, OMIM:610554, RefSeq DNA:NT_004487, RefSeq Protein:NP_057490, RefSeq RNA:NM_016406, UniProtKB:Q9Y3C8 No chr1 161123534 161128646 161132754 161158856 +PA37167 7353 HGNC:12520 ENSG00000070010 ubiquitin recognition factor in ER associated degradation 1 UFD1 ubiquitin fusion degradation 1 like (yeast) UFD1, UFD1L Yes No Comparative Toxicogenomics Database:7353, Ensembl:ENSG00000070010, GenAtlas:UFD1L, GeneCard:UFD1L, HGNC:HGNC:12520, ModBase:Q92890, NCBI Gene:7353, OMIM:601754, RefSeq DNA:NT_011519, RefSeq Protein:NP_001030324, RefSeq Protein:NP_005650, RefSeq RNA:NM_001035247, RefSeq RNA:NM_005659, UCSC Genome Browser:NM_005659, UniProtKB:A8MW31, UniProtKB:Q541A5, UniProtKB:Q92890 No chr22 19437464 19466818 19449941 19479215 +PA134937763 23376 HGNC:23039 ENSG00000014123 UFM1 specific ligase 1 UFL1 Regulator of CDK5RAP3 and DDRGK1, UFM1-specific ligase 1, novel LZAP-binding protein KIAA0776, Maxer, NLBP, RCAD Yes No Comparative Toxicogenomics Database:23376, Ensembl:ENSG00000014123, GeneCard:KIAA0776, HGNC:HGNC:23039, HumanCyc Gene:HS12051, ModBase:O94874, NCBI Gene:23376, OMIM:613372, RefSeq DNA:NT_025741, RefSeq Protein:NP_056138, RefSeq RNA:NM_015323, UniProtKB:O94874 No chr6 96969702 97003152 96521826 96555276 +PA134863405 51569 HGNC:20597 ENSG00000120686 ubiquitin fold modifier 1 UFM1 ubiquitin-fold modifier 1 C13orf20, bA131P10.1 Yes No Comparative Toxicogenomics Database:51569, Ensembl:ENSG00000120686, GeneCard:UFM1, HGNC:HGNC:20597, HumanCyc Gene:HS04418, ModBase:P61960, NCBI Gene:51569, OMIM:610553, RefSeq DNA:NT_024524, RefSeq Protein:NP_057701, RefSeq RNA:NM_016617, UniProtKB:P61960 No chr13 38923942 38937143 38349771 38363007 +PA162408522 402682 HGNC:33821 ENSG00000176125 UFM1 specific peptidase 1 UFSP1 UFM1 specific peptidase 1 (inactive), UFM1-specific peptidase 1 (non-functional) UFSP Yes No Ensembl:ENSG00000176125, GeneCard:UFSP1, HGNC:HGNC:33821, NCBI Gene:402682, OMIM:611481, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001015072, RefSeq RNA:NM_001015072, UniProtKB:Q6NVU6 No chr7 100486344 100487339 100888723 100889718 +PA162408529 55325 HGNC:25640 ENSG00000109775 UFM1 specific peptidase 2 UFSP2 UFM1-specific peptidase 2 C4orf20, FLJ11200 Yes No Ensembl:ENSG00000109775, GeneCard:UFSP2, HGNC:HGNC:25640, HumanCyc Gene:HS12698, NCBI Gene:55325, OMIM:611482, RefSeq DNA:NT_016354, RefSeq Protein:NP_060829, RefSeq RNA:NM_018359, RefSeq RNA:NR_028085, UniProtKB:B3KRI4, UniProtKB:Q9NUQ7 No chr4 186320691 186347139 185399540 185425985 +PA37169 7357 HGNC:12524 ENSG00000148154 UDP-glucose ceramide glucosyltransferase UGCG ceramide glucosyltransferase, glucosylceramide synthase GCS Yes No Comparative Toxicogenomics Database:7357, Ensembl:ENSG00000148154, GenAtlas:UGCG, GeneCard:UGCG, HGNC:HGNC:12524, HumanCyc Gene:HS07494, ModBase:Q16739, NCBI Gene:7357, OMIM:602874, RefSeq DNA:NT_008470, RefSeq Protein:NP_003349, RefSeq RNA:NM_003358, UCSC Genome Browser:NM_003358, UniProtKB:Q16739 No chr9 114659206 114697649 111896766 111935374 +PA37170 7358 HGNC:12525 ENSG00000109814 UDP-glucose 6-dehydrogenase UGDH uridine-diphospho glucose dehydrogenase GDH, UDP-GlcDH, UDPGDH, UGD Yes No Comparative Toxicogenomics Database:7358, Ensembl:ENSG00000109814, GenAtlas:UGDH, GeneCard:UGDH, HGNC:HGNC:12525, HumanCyc Gene:HS03260, ModBase:O60701, NCBI Gene:7358, OMIM:603370, RefSeq DNA:NT_016297, RefSeq Protein:NP_001171629, RefSeq Protein:NP_001171630, RefSeq Protein:NP_003350, RefSeq RNA:NM_001184700, RefSeq RNA:NM_001184701, RefSeq RNA:NM_003359, UCSC Genome Browser:NM_003359, UniProtKB:B3KUU2, UniProtKB:B4DN25, UniProtKB:O60701 No chr4 39500375 39529218 39498755 39527598 +PA38014 56886 HGNC:15663 ENSG00000136731 UDP-glucose glycoprotein glucosyltransferase 1 UGGT1 HUGT1, UGCGL1 Yes No Ensembl:ENSG00000136731, GenAtlas:UGCGL1, GeneCard:UGCGL1, GeneCard:UGGT1, HGNC:HGNC:15663, HumanCyc Gene:HS06204, ModBase:Q9NYU2, NCBI Gene:56886, OMIM:605897, RefSeq DNA:NT_022135, RefSeq Protein:NP_001020948, RefSeq Protein:NP_064505, RefSeq RNA:NM_001025777, RefSeq RNA:NM_020120, RefSeq RNA:NR_027671, UCSC Genome Browser:NM_020120, UniProtKB:Q9NYU2 No chr2 128848754 128953251 128091180 128195677 +PA38015 55757 HGNC:15664 ENSG00000102595 UDP-glucose glycoprotein glucosyltransferase 2 UGGT2 UDP-glucose:glycoprotein glucosyltransferase 2 FLJ10873, FLJ11485, HUGT2, MGC117360, MGC150689, MGC87276, UGCGL2 Yes Yes Ensembl:ENSG00000102595, GenAtlas:UGCGL2, GeneCard:UGCGL2, GeneCard:UGGT2, HGNC:HGNC:15664, HumanCyc Gene:HS02400, NCBI Gene:55757, OMIM:605898, RefSeq DNA:NT_009952, RefSeq Protein:NP_064506, RefSeq RNA:NM_020121, UCSC Genome Browser:NM_020121, UniProtKB:Q05D90, UniProtKB:Q8N5K0, UniProtKB:Q9NYU1 No chr13 96453834 96705736 95801580 96053482 +PA37172 7360 HGNC:12527 ENSG00000169764 UDP-glucose pyrophosphorylase 2 UGP2 UTP--glucose-1-phosphate uridylyltransferase SVUGP2, UGP1, UGPP1 Yes No Comparative Toxicogenomics Database:7360, Ensembl:ENSG00000169764, GenAtlas:UGP2, GeneCard:UGP2, HGNC:HGNC:12527, HumanCyc Gene:HS10006, ModBase:Q16851, NCBI Gene:7360, OMIM:191760, RefSeq DNA:NT_022184, RefSeq Protein:NP_001001521, RefSeq Protein:NP_006750, RefSeq RNA:NM_001001521, RefSeq RNA:NM_006759, UCSC Genome Browser:NM_006759, UniProtKB:Q16851 No chr2 64068084 64118696 63840950 63891562 +PA37173 7361 HGNC:12529 UDP glucuronosyltransferase family 1 member A complex locus UGT1A """UDP glucuronosyltransferase 1 family, polypeptide A cluster"", ""UDP glucuronosyltransferase 1 family, polypeptide A complex locus""" UGT, UGT1A@ Yes Yes GenAtlas:UGT1A@, GeneCard:UGT1A, HGNC:HGNC:12529, NCBI Gene:7361, RefSeq DNA:NG_002601 No chr2 234494085 234681945 233585439 233773299 +PA420 54658 HGNC:12530 ENSG00000241635 UDP glucuronosyltransferase 1 family, polypeptide A1 UGT1A1 UGT1A Yes Yes Comparative Toxicogenomics Database:54658, Ensembl:ENSG00000241635, GenAtlas:UGT1A1, GeneCard:UGT1A1, HGNC:HGNC:12530, ModBase:P22309, NCBI Gene:54658, OMIM:143500, OMIM:191740, OMIM:218800, OMIM:237900, OMIM:601816, OMIM:606785, RefSeq DNA:NG_002601.2, RefSeq Protein:NP_000454, RefSeq RNA:NM_000463, UCSC Genome Browser:NM_000463, UniProtKB:P22309, UniProtKB:Q5DT03 Yes chr2 234668916 234681946 233760270 233773300 +PA37174 54575 HGNC:12531 ENSG00000242515 UDP glucuronosyltransferase 1 family, polypeptide A10 UGT1A10 UGT1J Yes Yes Comparative Toxicogenomics Database:54575, Ensembl:ENSG00000242515, GenAtlas:UGT1A10, GeneCard:UGT1A10, HGNC:HGNC:12531, HumanCyc Gene:HS11967, ModBase:Q9HAW8, NCBI Gene:54575, OMIM:606435, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120, RefSeq Protein:NP_061948, RefSeq RNA:NM_019075, UCSC Genome Browser:NM_019075, UniProtKB:Q5DT02, UniProtKB:Q9HAW8 No chr2 234545123 234681951 233636477 233773305 +PA37175 54574 HGNC:12532 ENSG00000227846 UDP glucuronosyltransferase 1 family, polypeptide A11 pseudogene UGT1A11P UGT1K Yes No Ensembl:ENSG00000227846, GenAtlas:UGT1A11P, GeneCard:UGT1A11P, HGNC:HGNC:12532, NCBI Gene:54574, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120 No chr2 234512199 234513040 233603553 233604394 +PA37176 54573 HGNC:12533 ENSG00000228949 UDP glucuronosyltransferase 1 family, polypeptide A12 pseudogene UGT1A12P UGT1L Yes No Ensembl:ENSG00000228949, GenAtlas:UGT1A12P, GeneCard:UGT1A12P, HGNC:HGNC:12533, NCBI Gene:54573, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120 No chr2 234494085 234494937 233585439 233586291 +PA142670639 404204 HGNC:32191 ENSG00000234143 UDP glucuronosyltransferase 1 family, polypeptide A13 pseudogene UGT1A13P Yes No Ensembl:ENSG00000234143, GeneCard:UGT1A13P, HGNC:HGNC:32191, NCBI Gene:404204, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120 No chr2 234556575 234557672 233647929 233649026 +PA37177 54580 HGNC:12534 ENSG00000228445 UDP glucuronosyltransferase 1 family, polypeptide A2 pseudogene UGT1A2P UGT1BP Yes No Ensembl:ENSG00000228445, GenAtlas:UGT1A2P, GeneCard:UGT1A2P, HGNC:HGNC:12534, NCBI Gene:54580, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120 No chr2 234655785 234657186 233747139 233748540 +PA37178 54659 HGNC:12535 ENSG00000288702 UDP glucuronosyltransferase 1 family, polypeptide A3 UGT1A3 UGT1C Yes Yes Comparative Toxicogenomics Database:54659, Ensembl:ENSG00000288702, GenAtlas:UGT1A3, GeneCard:UGT1A3, HGNC:HGNC:12535, HumanCyc Gene:HS09519, ModBase:P35503, NCBI Gene:54659, OMIM:606428, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120, RefSeq Protein:NP_061966, RefSeq RNA:NM_019093, UCSC Genome Browser:NM_019093, UniProtKB:P35503, UniProtKB:Q5DT01 No chr2 234637773 234681945 233729127 233773299 +PA37179 54657 HGNC:12536 ENSG00000244474 UDP glucuronosyltransferase 1 family, polypeptide A4 UGT1A4 HUG-BR2, UGT1D Yes Yes Comparative Toxicogenomics Database:54657, Ensembl:ENSG00000244474, GenAtlas:UGT1A4, GeneCard:UGT1A4, HGNC:HGNC:12536, HumanCyc Gene:HS11970, ModBase:P22310, NCBI Gene:54657, OMIM:606429, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120, RefSeq Protein:NP_009051, RefSeq RNA:NM_007120, UCSC Genome Browser:NM_007120, UniProtKB:P22310, UniProtKB:Q5DT00 No chr2 234627438 234681945 233718792 233773299 +PA37180 54579 HGNC:12537 ENSG00000288705 UDP glucuronosyltransferase 1 family, polypeptide A5 UGT1A5 UGT1E Yes Yes Comparative Toxicogenomics Database:54579, Ensembl:ENSG00000288705, GenAtlas:UGT1A5, GeneCard:UGT1A5, HGNC:HGNC:12537, HumanCyc Gene:HS11969, ModBase:P35504, NCBI Gene:54579, OMIM:606430, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120, RefSeq Protein:NP_061951, RefSeq RNA:NM_019078, UniProtKB:P35504, UniProtKB:Q5DSZ9 No chr2 234621638 234681945 233712992 233773299 +PA37181 54578 HGNC:12538 ENSG00000167165 UDP glucuronosyltransferase 1 family, polypeptide A6 UGT1A6 GNT1, HLUGP, UGT1F Yes Yes Comparative Toxicogenomics Database:54578, Ensembl:ENSG00000167165, GenAtlas:UGT1A6, GeneCard:UGT1A6, HGNC:HGNC:12538, ModBase:P19224, NCBI Gene:54578, OMIM:606431, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120, RefSeq Protein:NP_001063, RefSeq Protein:NP_995584, RefSeq RNA:NM_001072, RefSeq RNA:NM_205862, UCSC Genome Browser:NM_001072, UniProtKB:A6NJC3, UniProtKB:P19224, UniProtKB:Q5DSZ8 No chr2 234600321 234681951 233691675 233773305 +PA37182 54577 HGNC:12539 ENSG00000244122 UDP glucuronosyltransferase 1 family, polypeptide A7 UGT1A7 UGT1G Yes Yes Comparative Toxicogenomics Database:54577, Ensembl:ENSG00000244122, GenAtlas:UGT1A7, GeneCard:UGT1A7, HGNC:HGNC:12539, HumanCyc Gene:HS11968, ModBase:Q9HAW7, NCBI Gene:54577, OMIM:606432, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120, RefSeq Protein:NP_061950, RefSeq RNA:NM_019077, UCSC Genome Browser:NM_019077, UniProtKB:Q5DSZ7, UniProtKB:Q9HAW7 No chr2 234590584 234681945 233681938 233773299 +PA37183 54576 HGNC:12540 ENSG00000242366 UDP glucuronosyltransferase 1 family, polypeptide A8 UGT1A8 UGT1H Yes Yes Comparative Toxicogenomics Database:54576, Ensembl:ENSG00000242366, GenAtlas:UGT1A8, GeneCard:UGT1A8, HGNC:HGNC:12540, ModBase:Q9HAW9, NCBI Gene:54576, OMIM:606433, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120, RefSeq Protein:NP_061949, RefSeq RNA:NM_019076, UCSC Genome Browser:NM_019076, UniProtKB:Q5DSZ6, UniProtKB:Q9HAW9 No chr2 234526291 234681946 233617645 233773299 +PA419 54600 HGNC:12541 ENSG00000241119 UDP glucuronosyltransferase 1 family, polypeptide A9 UGT1A9 HLUGP4, LUGP4, UGT1AI Yes Yes Comparative Toxicogenomics Database:54600, Ensembl:ENSG00000241119, GenAtlas:UGT1A9, GeneCard:UGT1A9, HGNC:HGNC:12541, HumanCyc Gene:HS00042, ModBase:O60656, NCBI Gene:54600, OMIM:606434, RefSeq DNA:NG_002601, RefSeq DNA:NT_005120, RefSeq Protein:NP_066307, RefSeq RNA:NM_021027, UCSC Genome Browser:NM_021027, UniProtKB:O60656, UniProtKB:Q5DSZ5 No chr2 234580544 234681951 233671898 233773305 +PA37184 10941 HGNC:12542 ENSG00000173610 UDP glucuronosyltransferase family 2 member A1 complex locus UGT2A1 UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus Yes Yes Comparative Toxicogenomics Database:10941, Ensembl:ENSG00000173610, GenAtlas:UGT2A1, GeneCard:UGT2A1, HGNC:HGNC:12542, HumanCyc Gene:HS10699, ModBase:Q9Y4X1, NCBI Gene:10941, OMIM:604716, RefSeq DNA:NT_022778, RefSeq Protein:NP_006789, RefSeq RNA:NM_006798, UCSC Genome Browser:NM_006798, UniProtKB:Q9Y4X1 No chr4 70454135 70518967 69588417 69653249 +PA142670640 574537 HGNC:28183 ENSG00000271271 UDP glucuronosyltransferase 2 family, polypeptide A2 UGT2A2 Yes No Ensembl:ENSG00000271271, GeneCard:UGT2A2, HGNC:HGNC:28183, NCBI Gene:574537, RefSeq DNA:NT_022778, RefSeq Protein:NP_001099147, RefSeq RNA:NM_001105677 No chr4 70454135 70505360 69588417 69639642 +PA142670641 79799 HGNC:28528 ENSG00000135220 UDP glucuronosyltransferase family 2 member A3 UGT2A3 UDP glucuronosyltransferase 2 family, polypeptide A3 FLJ21934 Yes No Comparative Toxicogenomics Database:79799, Ensembl:ENSG00000135220, GeneCard:UGT2A3, HGNC:HGNC:28528, HumanCyc Gene:HS05968, ModBase:Q6UWM9, NCBI Gene:79799, RefSeq DNA:NT_022778, RefSeq DNA:NT_167250, RefSeq Protein:NP_079019, RefSeq RNA:NM_024743, RefSeq RNA:NR_024010, UniProtKB:Q6UWM9 No chr4 69794177 69817509 68928459 68951800 +PA37185 7362 UDP glucuronosyltransferase 2 family, polypeptide B cluster UGT2B@ Yes Yes GeneCard:UGT2B@, NCBI Gene:7362 No chr4 +PA37186 7365 HGNC:12544 ENSG00000109181 UDP glucuronosyltransferase family 2 member B10 UGT2B10 UDP glucuronosyltransferase 2 family, polypeptide B10 Yes Yes Comparative Toxicogenomics Database:7365, Ensembl:ENSG00000109181, GenAtlas:UGT2B10, GeneCard:UGT2B10, HGNC:HGNC:12544, ModBase:P36537, NCBI Gene:7365, OMIM:600070, RefSeq DNA:NT_022778, RefSeq DNA:NT_167250, RefSeq Protein:NP_001066, RefSeq Protein:NP_001138239, RefSeq RNA:NM_001075, RefSeq RNA:NM_001144767, UCSC Genome Browser:NM_001075, UniProtKB:B4DPP1, UniProtKB:P36537, UniProtKB:Q53GU2 No chr4 69681713 69697741 68815981 68832038 +PA37187 10720 HGNC:12545 ENSG00000213759 UDP glucuronosyltransferase family 2 member B11 UGT2B11 UDP glucuronosyltransferase 2 family, polypeptide B11 Yes No Ensembl:ENSG00000213759, GenAtlas:UGT2B11, GeneCard:UGT2B11, HGNC:HGNC:12545, HumanCyc Gene:HS10271, ModBase:O75310, NCBI Gene:10720, OMIM:603064, RefSeq DNA:NT_022778, RefSeq Protein:NP_001064, RefSeq RNA:NM_001073, UCSC Genome Browser:NM_001073, UniProtKB:O75310 No chr4 70066035 70080449 69200317 69224983 +PA37188 7366 HGNC:12546 ENSG00000196620 UDP glucuronosyltransferase family 2 member B15 UGT2B15 UDP glucuronosyltransferase 2 family, polypeptide B15 UGT2B8 Yes Yes Comparative Toxicogenomics Database:7366, Ensembl:ENSG00000196620, GenAtlas:UGT2B15, GeneCard:UGT2B15, HGNC:HGNC:12546, HumanCyc Gene:HS03208, ModBase:P54855, NCBI Gene:7366, OMIM:600069, RefSeq DNA:NT_022778, RefSeq DNA:NT_167250, RefSeq Protein:NP_001067, RefSeq RNA:NM_001076, UCSC Genome Browser:NM_001076, UniProtKB:P54855 No chr4 69512315 69536494 68646597 68670776 +PA37189 7367 HGNC:12547 ENSG00000197888 UDP glucuronosyltransferase family 2 member B17 UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 Yes Yes Comparative Toxicogenomics Database:7367, Ensembl:ENSG00000197888, GenAtlas:UGT2B17, GeneCard:UGT2B17, HGNC:HGNC:12547, HumanCyc Gene:HS11276, ModBase:O75795, NCBI Gene:7367, OMIM:601903, RefSeq DNA:NG_017033, RefSeq DNA:NT_022778, RefSeq Protein:NP_001068, RefSeq RNA:NM_001077, UCSC Genome Browser:NM_001077, UniProtKB:O75795 No chr4 69402902 69434245 68537184 68568527 +PA37190 54572 HGNC:12548 ENSG00000249956 UDP glucuronosyltransferase 2 family, polypeptide B24 pseudogene UGT2B24P Yes No Ensembl:ENSG00000249956, GenAtlas:UGT2B24P, GeneCard:UGT2B24P, HGNC:HGNC:12548, NCBI Gene:54572, RefSeq DNA:NG_001282, RefSeq DNA:NT_022778 No chr4 70274546 70288993 69408828 69423275 +PA37191 54571 HGNC:12549 ENSG00000215110 UDP glucuronosyltransferase 2 family, polypeptide B25 pseudogene UGT2B25P Yes No Ensembl:ENSG00000215110, GenAtlas:UGT2B25P, GeneCard:UGT2B25P, HGNC:HGNC:12549, NCBI Gene:54571, RefSeq DNA:NG_001281, RefSeq DNA:NT_022778 No chr4 70255201 70267912 69389483 69402194 +PA37192 54570 HGNC:12550 ENSG00000250919 UDP glucuronosyltransferase 2 family, polypeptide B26 pseudogene UGT2B26P Yes No Ensembl:ENSG00000250919, GenAtlas:UGT2B26P, GeneCard:UGT2B26P, HGNC:HGNC:12550, NCBI Gene:54570, RefSeq DNA:NG_001280, RefSeq DNA:NT_022778 No chr4 69893503 69910736 69027785 69045018 +PA37193 54569 HGNC:12551 ENSG00000251685 UDP glucuronosyltransferase 2 family, polypeptide B27 pseudogene UGT2B27P Yes No Ensembl:ENSG00000251685, GenAtlas:UGT2B27P, GeneCard:UGT2B27P, HGNC:HGNC:12551, NCBI Gene:54569, RefSeq DNA:NG_001279, RefSeq DNA:NT_022778 No chr4 69885382 69886389 69019661 69020379 +PA37779 54490 HGNC:13479 ENSG00000135226 UDP glucuronosyltransferase family 2 member B28 UGT2B28 UDP glucuronosyltransferase 2 family, polypeptide B28 Yes No Ensembl:ENSG00000135226, GenAtlas:UGT2B28, GeneCard:UGT2B28, HGNC:HGNC:13479, HumanCyc Gene:HS05971, ModBase:Q9BY64, NCBI Gene:54490, OMIM:606497, RefSeq DNA:NT_022778, RefSeq Protein:NP_001193933, RefSeq Protein:NP_444267, RefSeq RNA:NM_001207004, RefSeq RNA:NM_053039, UCSC Genome Browser:NM_053039, UniProtKB:Q9BY64 No chr4 70146217 70160768 69280429 69295050 +PA37194 54568 HGNC:12552 ENSG00000250566 UDP glucuronosyltransferase 2 family, polypeptide B29 pseudogene UGT2B29P Yes No Ensembl:ENSG00000250566, GenAtlas:UGT2B29P, GeneCard:UGT2B29P, HGNC:HGNC:12552, NCBI Gene:54568, RefSeq DNA:NG_001278, RefSeq DNA:NT_022778 No chr4 69382636 69383371 68516917 68517653 +PA360 7363 HGNC:12553 ENSG00000156096 UDP glucuronosyltransferase family 2 member B4 UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4 UGT2B11 Yes Yes Comparative Toxicogenomics Database:7363, Ensembl:ENSG00000156096, GenAtlas:UGT2B4, GeneCard:UGT2B4, HGNC:HGNC:12553, HumanCyc Gene:HS08094, ModBase:P06133, NCBI Gene:7363, OMIM:600067, RefSeq DNA:NT_022778, RefSeq Protein:NP_066962, RefSeq RNA:NM_021139, UCSC Genome Browser:NM_021139, UniProtKB:P06133 No chr4 70345883 70391732 69480165 69526014 +PA361 7364 HGNC:12554 ENSG00000171234 UDP glucuronosyltransferase family 2 member B7 UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7 UGT2B9 Yes Yes Comparative Toxicogenomics Database:7364, Ensembl:ENSG00000171234, GenAtlas:UGT2B7, GeneCard:UGT2B7, HGNC:HGNC:12554, HumanCyc Gene:HS10272, ModBase:P16662, NCBI Gene:7364, OMIM:600068, RefSeq DNA:NT_022778, RefSeq Protein:NP_001065, RefSeq RNA:NM_001074, UCSC Genome Browser:NM_001074, UniProtKB:P16662 No chr4 69955190 69978705 69051264 69112987 +PA142670642 133688 HGNC:26625 ENSG00000145626 UDP glycosyltransferase family 3 member A1 UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 FLJ34658 Yes No Comparative Toxicogenomics Database:133688, Ensembl:ENSG00000145626, GeneCard:UGT3A1, HGNC:HGNC:26625, HumanCyc Gene:HS07266, ModBase:Q6NUS8, NCBI Gene:133688, RefSeq DNA:NT_006576, RefSeq Protein:NP_001165344, RefSeq Protein:NP_689617, RefSeq RNA:NM_001171873, RefSeq RNA:NM_152404, UniProtKB:A8K444, UniProtKB:B7Z3N0, UniProtKB:Q6NUS8, UniProtKB:Q8IYS9 No chr5 35953191 36066639 35953089 36001055 +PA142670643 167127 HGNC:27266 ENSG00000168671 UDP glycosyltransferase family 3 member A2 UGT3A2 UDP glycosyltransferase 3 family, polypeptide A2 Yes No Comparative Toxicogenomics Database:167127, Ensembl:ENSG00000168671, GeneCard:UGT3A2, HGNC:HGNC:27266, ModBase:Q3SY77, NCBI Gene:167127, RefSeq DNA:NT_006576, RefSeq Protein:NP_001161788, RefSeq Protein:NP_777574, RefSeq RNA:NM_001168316, RefSeq RNA:NM_174914, RefSeq RNA:NR_031764, UniProtKB:B4DUQ7, UniProtKB:Q3SY77 No chr5 36035119 36067023 36035017 36071358 +PA37195 7368 HGNC:12555 ENSG00000174607 UDP glycosyltransferase 8 UGT8 2-hydroxyacylsphingosine 1-beta-galactosyltransferase CGT Yes No Comparative Toxicogenomics Database:7368, Ensembl:ENSG00000174607, GenAtlas:UGT8, GeneCard:UGT8, HGNC:HGNC:12555, HumanCyc Gene:HS10812, ModBase:Q16880, NCBI Gene:7368, OMIM:601291, RefSeq DNA:NT_016354, RefSeq Protein:NP_001121646, RefSeq Protein:NP_003351, RefSeq RNA:NM_001128174, RefSeq RNA:NM_003360, UCSC Genome Browser:NM_003360, UniProtKB:Q16880 No chr4 115519611 115598202 114597789 114687914 +PA134974001 127933 HGNC:19683 ENSG00000152332 U2AF homology motif kinase 1 UHMK1 U2AF homology motif (UHM) kinase 1 KIS, Kist Yes No Comparative Toxicogenomics Database:127933, Ensembl:ENSG00000152332, GeneCard:UHMK1, HGNC:HGNC:19683, HumanCyc Gene:HS07808, ModBase:Q8TAS1, NCBI Gene:127933, OMIM:608849, RefSeq DNA:NT_004487, RefSeq Protein:NP_001171692, RefSeq Protein:NP_653225, RefSeq Protein:NP_787062, RefSeq RNA:NM_001184763, RefSeq RNA:NM_144624, RefSeq RNA:NM_175866, UniProtKB:Q8TAS1 No chr1 162466964 162499419 162497174 162529629 +PA37196 29128 HGNC:12556 ENSG00000276043 ubiquitin like with PHD and ring finger domains 1 UHRF1 inverted CCAAT box binding protein 90, ubiquitin-like with PHD and ring finger domains 1 FLJ21925, ICBP90, Np95, RNF106, TDRD22 Yes Yes Comparative Toxicogenomics Database:29128, Ensembl:ENSG00000276043, GenAtlas:UHRF1, GeneCard:UHRF1, HGNC:HGNC:12556, HumanCyc Gene:HS00497, ModBase:Q96T88, NCBI Gene:29128, OMIM:607990, RefSeq DNA:NT_011255, RefSeq Protein:NP_001041666, RefSeq Protein:NP_037414, RefSeq RNA:NM_001048201, RefSeq RNA:NM_013282, UCSC Genome Browser:NM_013282, UniProtKB:A0JBR2, UniProtKB:Q2HIX7, UniProtKB:Q96T88 No chr19 4909510 4962165 4903080 4962154 +PA37197 115426 HGNC:12557 ENSG00000147854 ubiquitin like with PHD and ring finger domains 2 UHRF2 """Np95-like ring finger protein"", ""ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase""" MGC33463, NIRF, RNF107, TDRD23, URF2 Yes No Ensembl:ENSG00000147854, GenAtlas:UHRF2, GeneCard:UHRF2, HGNC:HGNC:12557, HumanCyc Gene:HS07473, ModBase:Q96PU4, NCBI Gene:115426, RefSeq DNA:NT_008413, RefSeq Protein:NP_690856, RefSeq RNA:NM_152896, UniProtKB:Q96PU4 No chr9 6413151 6507054 6413148 6508108 +PA162408624 51720 HGNC:30298 ENSG00000087206 ubiquitin interaction motif containing 1 UIMC1 receptor associated protein 80 RAP80 Yes No Ensembl:ENSG00000087206, GeneCard:UIMC1, HGNC:HGNC:30298, HumanCyc Gene:HS01563, ModBase:Q96RL1, NCBI Gene:51720, OMIM:609433, RefSeq DNA:NT_023133, RefSeq Protein:NP_001186226, RefSeq Protein:NP_001186227, RefSeq Protein:NP_057374, RefSeq RNA:NM_001199297, RefSeq RNA:NM_001199298, RefSeq RNA:NM_016290, UniProtKB:Q96RL1 No chr5 176332006 176433795 176905005 177022640 +PA37915 80329 HGNC:14893 ENSG00000111981 UL16 binding protein 1 ULBP1 RAET1I Yes No Ensembl:ENSG00000111981, GenAtlas:ULBP1, GeneCard:ULBP1, HGNC:HGNC:14893, HumanCyc Gene:HS03494, ModBase:Q9BZM6, NCBI Gene:80329, OMIM:605697, RefSeq DNA:NT_025741, RefSeq Protein:NP_079494, RefSeq RNA:NM_025218, UCSC Genome Browser:NM_025218, UniProtKB:Q5VY81, UniProtKB:Q9BZM6 No chr6 150285110 150294846 149963974 149973715 +PA37916 80328 HGNC:14894 ENSG00000131015 UL16 binding protein 2 ULBP2 RAET1H Yes No Comparative Toxicogenomics Database:80328, Ensembl:ENSG00000131015, GenAtlas:ULBP2, GeneCard:ULBP2, HGNC:HGNC:14894, HumanCyc Gene:HS05469, ModBase:Q9BZM5, NCBI Gene:80328, OMIM:605698, RefSeq DNA:NT_025741, RefSeq Protein:NP_079493, RefSeq RNA:NM_025217, UCSC Genome Browser:NM_025217, UniProtKB:Q9BZM5 No chr6 150255901 150270371 149941938 149949235 +PA37917 79465 HGNC:14895 ENSG00000131019 UL16 binding protein 3 ULBP3 RAET1N Yes No Ensembl:ENSG00000131019, GenAtlas:ULBP3, GeneCard:ULBP3, HGNC:HGNC:14895, HumanCyc Gene:HS05472, ModBase:Q9BZM4, NCBI Gene:79465, OMIM:605699, RefSeq DNA:NT_025741, RefSeq Protein:NP_078794, RefSeq RNA:NM_024518, UCSC Genome Browser:NM_024518, UniProtKB:Q5VY82, UniProtKB:Q9BZM4 No chr6 150383341 150390940 150061046 150069147 +PA37198 8408 HGNC:12558 ENSG00000177169 unc-51 like autophagy activating kinase 1 ULK1 ATG1 autophagy related 1 homolog (S. cerevisiae), unc-51-like kinase 1 (C. elegans) ATG1, ATG1A Yes No Comparative Toxicogenomics Database:8408, Ensembl:ENSG00000177169, GenAtlas:ULK1, GeneCard:ULK1, HGNC:HGNC:12558, HumanCyc Gene:HS11133, ModBase:O75385, NCBI Gene:8408, OMIM:603168, RefSeq DNA:NT_009755, RefSeq Protein:NP_003556, RefSeq RNA:NM_003565, UCSC Genome Browser:NM_003565, UniProtKB:O75385 No chr12 132379279 132407707 131894734 131923162 +PA37780 9706 HGNC:13480 ENSG00000083290 unc-51 like autophagy activating kinase 2 ULK2 unc-51-like kinase 2 (C. elegans) ATG1B, KIAA0623, Unc51.2 Yes No Comparative Toxicogenomics Database:9706, Ensembl:ENSG00000083290, GenAtlas:ULK2, GeneCard:ULK2, HGNC:HGNC:13480, HumanCyc Gene:HS01437, ModBase:Q8IYT8, NCBI Gene:9706, OMIM:608650, RefSeq DNA:NT_010718, RefSeq Protein:NP_001136082, RefSeq Protein:NP_055498, RefSeq RNA:NM_001142610, RefSeq RNA:NM_014683, UCSC Genome Browser:NM_014683, UniProtKB:Q8IYT8 No chr17 19674143 19771239 19770828 19867926 +PA134908392 25989 HGNC:19703 ENSG00000140474 unc-51 like kinase 3 ULK3 unc-51-like kinase 3 (C. elegans) DKFZP434C131, FLJ90566 Yes Yes Comparative Toxicogenomics Database:25989, Ensembl:ENSG00000140474, GeneCard:ULK3, HGNC:HGNC:19703, ModBase:Q6PHR2, NCBI Gene:25989, OMIM:613472, RefSeq DNA:NT_010194, RefSeq Protein:NP_001092906, RefSeq RNA:NM_001099436, UniProtKB:Q6PHR2 No chr15 75128459 75135552 74836116 74843211 +PA134978836 54986 HGNC:15784 ENSG00000168038 unc-51 like kinase 4 ULK4 unc-51-like kinase 4 (C. elegans) FAM7C1, FLJ20574, REC01035 Yes No Ensembl:ENSG00000168038, GeneCard:ULK4, HGNC:HGNC:15784, ModBase:Q96C45, NCBI Gene:54986, RefSeq DNA:NT_022517, RefSeq Protein:NP_060356, RefSeq RNA:NM_017886, UniProtKB:B3KSE5, UniProtKB:Q96C45 No chr3 41288090 42056080 41246599 41963020 +PA27980 89838 HGNC:15775 ENSG00000261279 unc-51-like kinase 4 (C. elegans) pseudogene 1 ULK4P1 D-X Yes No Ensembl:ENSG00000261279, GenAtlas:FAM7A1, GeneCard:ULK4P1, HGNC:HGNC:15775, NCBI Gene:89838, RefSeq DNA:NT_010194, RefSeq RNA:NR_026858 No chr15 32698812 32727250 32406611 32435049 +PA27981 100288380 HGNC:15776 ENSG00000260128 unc-51-like kinase 4 (C. elegans) pseudogene 2 ULK4P2 D-X Yes No Ensembl:ENSG00000260128, GenAtlas:FAM7A2, GeneCard:ULK4P2, HGNC:HGNC:15776, NCBI Gene:100288380, RefSeq DNA:NT_010194, RefSeq RNA:NR_027470 No chr15 30864758 30892911 30572555 30600708 +PA27982 89837 HGNC:15777 ENSG00000178081 unc-51-like kinase 4 (C. elegans) pseudogene 3 ULK4P3 D-X Yes No Ensembl:ENSG00000178081, GenAtlas:FAM7A3, GeneCard:ULK4P3, HGNC:HGNC:15777, NCBI Gene:89837, RefSeq DNA:NT_010194, RefSeq RNA:NR_026859 No chr15 30395935 30423951 30103732 30131748 +PA166123751 729852 HGNC:48955 ENSG00000219545 UBAP1-MVB12-associated (UMA) domain containing 1 UMAD1 RPA3-AS1, RPA3OS Yes No Ensembl:ENSG00000219545, HGNC:HGNC:48955, NCBI Gene:729852 No +PA37199 7369 HGNC:12559 ENSG00000169344 uromodulin UMOD Tamm-Horsfall glycoprotein, uromucoid MCKD2 Yes Yes Comparative Toxicogenomics Database:7369, Ensembl:ENSG00000169344, GenAtlas:UMOD, GeneCard:UMOD, HGNC:HGNC:12559, HumanCyc Gene:HS09930, ModBase:P07911, NCBI Gene:7369, OMIM:162000, OMIM:191845, OMIM:603860, OMIM:609886, RefSeq DNA:NG_008151, RefSeq DNA:NT_010393, RefSeq Protein:NP_001008390, RefSeq Protein:NP_003352, RefSeq RNA:NM_001008389, RefSeq RNA:NM_003361, UCSC Genome Browser:NM_003361, UniProtKB:B3KRN9, UniProtKB:P07911 No chr16 20344373 20364200 20333051 20356301 +PA37200 89766 HGNC:12560 ENSG00000177398 uromodulin like 1 UMODL1 olfactorin, uromodulin-like 1 Yes No Ensembl:ENSG00000177398, GenAtlas:UMODL1, GeneCard:UMODL1, HGNC:HGNC:12560, NCBI Gene:89766, RefSeq DNA:NT_011515, RefSeq Protein:NP_001004416, RefSeq Protein:NP_001186456, RefSeq Protein:NP_001186457, RefSeq Protein:NP_775839, RefSeq RNA:NM_001004416, RefSeq RNA:NM_001199527, RefSeq RNA:NM_001199528, RefSeq RNA:NM_173568, UniProtKB:Q5DID0 No chr21 43483068 43563105 42062959 42142996 +PA363 7372 HGNC:12563 ENSG00000114491 uridine monophosphate synthetase UMPS orotate phosphoribosyl transferase and orotidine-5'-decarboxylase Yes Yes Comparative Toxicogenomics Database:7372, Ensembl:ENSG00000114491, GenAtlas:UMPS, GeneCard:UMPS, HGNC:HGNC:12563, HumanCyc Gene:HS03774, ModBase:P11172, NCBI Gene:7372, OMIM:258900, RefSeq DNA:NG_017037, RefSeq DNA:NT_005612, RefSeq Protein:NP_000364, RefSeq RNA:NM_000373, RefSeq RNA:NR_033434, RefSeq RNA:NR_033437, UCSC Genome Browser:NM_000373, UniProtKB:A8K5J1, UniProtKB:P11172 No chr3 124449213 124468120 124730366 124749273 +PA37202 9094 HGNC:12565 ENSG00000109103 unc-119 lipid binding chaperone UNC119 POC7 centriolar protein homolog A (Chlamydomonas), unc-119 homolog (C. elegans) HRG4, POC7, POC7A Yes No Comparative Toxicogenomics Database:9094, Ensembl:ENSG00000109103, GenAtlas:UNC119, GeneCard:UNC119, HGNC:HGNC:12565, HumanCyc Gene:HS03199, ModBase:Q13432, NCBI Gene:9094, OMIM:604011, RefSeq DNA:NG_012302, RefSeq DNA:NT_010799, RefSeq Protein:NP_005139, RefSeq Protein:NP_473376, RefSeq RNA:NM_005148, RefSeq RNA:NM_054035, UCSC Genome Browser:NM_005148, UniProtKB:Q13432 No chr17 26873725 26879647 28546707 28552633 +PA38152 84747 HGNC:16488 ENSG00000175970 unc-119 lipid binding chaperone B UNC119B POC7 centriolar protein homolog B (Chlamydomonas), unc-119 homolog B (C. elegans) MGC5139, POC7B Yes No Ensembl:ENSG00000175970, GenAtlas:UNC119B, GeneCard:UNC119B, HGNC:HGNC:16488, HumanCyc Gene:HS16557, ModBase:A6NIH7, NCBI Gene:84747, RefSeq DNA:NT_009775, RefSeq Protein:NP_001074002, RefSeq RNA:NM_001080533, UniProtKB:A6NIH7 No chr12 121148238 121161443 120710435 120723640 +PA134879020 23025 HGNC:23150 ENSG00000130477 unc-13 homolog A UNC13A unc-13 homolog A (C. elegans) KIAA1032, Munc13-1 Yes Yes Ensembl:ENSG00000130477, GeneCard:UNC13A, HGNC:HGNC:23150, ModBase:Q9UPW8, NCBI Gene:23025, OMIM:609894, RefSeq DNA:NT_011295, RefSeq Protein:NP_001073890, RefSeq RNA:NM_001080421, UniProtKB:Q9UPW8 No chr19 17712137 17799123 17601328 17688344 +PA37203 10497 HGNC:12566 ENSG00000198722 unc-13 homolog B UNC13B unc-13 homolog B (C. elegans) Munc13-2, UNC13, Unc13h2, hmunc13 Yes No Comparative Toxicogenomics Database:10497, Ensembl:ENSG00000198722, GenAtlas:UNC13B, GeneCard:UNC13B, HGNC:HGNC:12566, ModBase:O14795, NCBI Gene:10497, OMIM:605836, RefSeq DNA:NT_008413, RefSeq Protein:NP_006368, RefSeq RNA:NM_006377, UCSC Genome Browser:NM_006377, UniProtKB:O14795, UniProtKB:Q4LE73 No chr9 35161976 35405334 35161974 35405337 +PA134870087 440279 HGNC:23149 ENSG00000137766 unc-13 homolog C UNC13C unc-13 homolog C (C. elegans) DKFZp547H074, Munc13-3 Yes No Ensembl:ENSG00000137766, GeneCard:UNC13C, HGNC:HGNC:23149, ModBase:Q8NB66, NCBI Gene:440279, RefSeq DNA:NT_010194, RefSeq Protein:NP_001074003, RefSeq RNA:NM_001080534, UniProtKB:Q8NB66 No chr15 54270557 54920806 53837573 54628608 +PA134919958 201294 HGNC:23147 ENSG00000092929 unc-13 homolog D UNC13D unc-13 homolog D (C. elegans) Munc13-4 Yes No Comparative Toxicogenomics Database:201294, Ensembl:ENSG00000092929, GeneCard:UNC13D, HGNC:HGNC:23147, ModBase:Q70J99, NCBI Gene:201294, OMIM:608897, OMIM:608898, RefSeq DNA:NG_007266, RefSeq DNA:NT_010783, RefSeq Protein:NP_954712, RefSeq RNA:NM_199242, UniProtKB:Q70J99 No chr17 73823306 73840798 75827225 75844717 +PA142670638 55898 HGNC:30594 ENSG00000140553 unc-45 myosin chaperone A UNC45A smooth muscle cell associated protein-1, unc-45 homolog A (C. elegans) GC-UNC45, SMAP-1 Yes No Comparative Toxicogenomics Database:55898, Ensembl:ENSG00000140553, GeneCard:UNC45A, HGNC:HGNC:30594, ModBase:Q9H3U1, NCBI Gene:55898, OMIM:611219, RefSeq DNA:NT_010274, RefSeq Protein:NP_001034764, RefSeq Protein:NP_061141, RefSeq RNA:NM_001039675, RefSeq RNA:NM_018671, UniProtKB:A8K6F7, UniProtKB:Q9H3U1 No chr15 91473410 91497323 90929980 90954093 +PA26655 146862 HGNC:14304 ENSG00000141161 unc-45 myosin chaperone B UNC45B unc-45 homolog B (C. elegans) CMYA4, UNC45 Yes No Comparative Toxicogenomics Database:146862, Ensembl:ENSG00000141161, GenAtlas:UNC45B, GeneCard:UNC45B, HGNC:HGNC:14304, HumanCyc Gene:HS13864, ModBase:Q8IWX7, NCBI Gene:146862, OMIM:611220, RefSeq DNA:NT_010799, RefSeq Protein:NP_001028748, RefSeq Protein:NP_775259, RefSeq RNA:NM_001033576, RefSeq RNA:NM_173167, UCSC Genome Browser:NM_173167, UniProtKB:Q8IWX7 No chr17 33474787 33516364 35147793 35189345 +PA134984566 25972 HGNC:16046 ENSG00000115446 unc-50 inner nuclear membrane RNA binding protein UNC50 unc-50 homolog (C. elegans) GMH1, UNCL, URP Yes No Comparative Toxicogenomics Database:25972, Ensembl:ENSG00000115446, GeneCard:UNC50, HGNC:HGNC:16046, HumanCyc Gene:HS12845, NCBI Gene:25972, RefSeq DNA:NT_022171, RefSeq Protein:NP_054763, RefSeq RNA:NM_014044, UniProtKB:Q53HI1 No chr2 99225032 99234978 98608569 98618515 +PA37204 90249 HGNC:12567 ENSG00000113763 unc-5 netrin receptor A UNC5A unc-5 homolog A (C. elegans) KIAA1976, UNC5H1 Yes No Comparative Toxicogenomics Database:90249, Ensembl:ENSG00000113763, GenAtlas:UNC5A, GeneCard:UNC5A, HGNC:HGNC:12567, ModBase:Q6ZN44, NCBI Gene:90249, OMIM:607869, RefSeq DNA:NT_023133, RefSeq Protein:NP_588610, RefSeq RNA:NM_133369, UniProtKB:Q6ZN44 No chr5 176237560 176307899 176810559 176880898 +PA37205 219699 HGNC:12568 ENSG00000107731 unc-5 netrin receptor B UNC5B unc-5 homolog B (C. elegans) UNC5H2, p53RDL1 Yes No Comparative Toxicogenomics Database:219699, Ensembl:ENSG00000107731, GenAtlas:UNC5B, GeneCard:UNC5B, HGNC:HGNC:12568, HumanCyc Gene:HS03019, ModBase:Q8IZJ1, NCBI Gene:219699, OMIM:607870, RefSeq DNA:NT_030059, RefSeq Protein:NP_734465, RefSeq RNA:NM_170744, UniProtKB:Q8IZJ1 No chr10 72972292 73062635 71212535 71302879 +PA37206 8633 HGNC:12569 ENSG00000182168 unc-5 netrin receptor C UNC5C unc-5 homolog C (C. elegans) Yes No Ensembl:ENSG00000182168, GenAtlas:UNC5C, GeneCard:UNC5C, HGNC:HGNC:12569, ModBase:O95185, NCBI Gene:8633, OMIM:603610, RefSeq DNA:NT_016354, RefSeq Protein:NP_003719, RefSeq RNA:NM_003728, UCSC Genome Browser:NM_003728, UniProtKB:O95185 No chr4 96083655 96470361 95162504 95549210 +PA134906657 222643 HGNC:21203 ENSG00000124602 unc-5 family C-terminal like UNC5CL ZU5 and death domain containing, unc-5 homolog C (C. elegans)-like MGC34763, ZUD Yes No Ensembl:ENSG00000124602, GeneCard:UNC5CL, HGNC:HGNC:21203, ModBase:Q8IV45, NCBI Gene:222643, RefSeq DNA:NT_007592, RefSeq Protein:NP_775832, RefSeq RNA:NM_173561, UniProtKB:Q8IV45 No chr6 40994640 41006938 41026901 41039199 +PA38612 137970 HGNC:18634 ENSG00000156687 unc-5 netrin receptor D UNC5D Netrin receptor UNC5D, Protein unc-5 homolog 4, Protein unc-5 homolog D, unc-5 homolog D (C. elegans) KIAA1777, Unc5h4 Yes No Ensembl:ENSG00000156687, GenAtlas:UNC5D, GeneCard:UNC5D, HGNC:HGNC:18634, HumanCyc Gene:HS08146, ModBase:Q6UXZ4, NCBI Gene:137970, RefSeq DNA:NT_167187, RefSeq Protein:NP_543148, RefSeq RNA:NM_080872, UCSC Genome Browser:NM_080872, UniProtKB:Q6UXZ4 No chr8 35092975 35654068 35235457 35796550 +PA134994003 57578 HGNC:19966 ENSG00000133958 unc-79 homolog, NALCN channel complex subunit UNC79 unc-79 homolog (C. elegans) KIAA1409 Yes No Ensembl:ENSG00000133958, GeneCard:KIAA1409, HGNC:HGNC:19966, NCBI Gene:57578, RefSeq DNA:NT_026437, RefSeq Protein:NP_065869, RefSeq RNA:NM_020818, UniProtKB:Q9P2D8 No chr14 93799565 94174222 93333219 93710473 +PA165697705 285175 HGNC:26582 ENSG00000144406 unc-80 homolog, NALCN channel complex subunit UNC80 unc-80 homolog (C. elegans) C2orf21, FLJ33496, KIAA1843, UNC-80 Yes No Ensembl:ENSG00000144406, GeneCard:UNC80, HGNC:HGNC:26582, NCBI Gene:285175, OMIM:612636, RefSeq DNA:NT_005403, RefSeq Protein:NP_115893, RefSeq Protein:NP_872393, RefSeq Protein:XP_001715640, RefSeq Protein:XP_001717264, RefSeq Protein:XP_001717706, RefSeq RNA:NM_032504, RefSeq RNA:NM_182587, RefSeq RNA:XM_001715588, RefSeq RNA:XM_001717212, RefSeq RNA:XM_001717654, UniProtKB:C9J1U3, UniProtKB:Q8N2C7 No chr2 210636717 210864024 209771925 209999300 +PA37207 54346 HGNC:12570 ENSG00000112494 unc-93 homolog A UNC93A unc-93 homolog A (C. elegans) dJ366N23.1, dJ366N23.2 Yes No Ensembl:ENSG00000112494, GenAtlas:UNC93A, GeneCard:UNC93A, HGNC:HGNC:12570, ModBase:Q86WB7, NCBI Gene:54346, OMIM:607995, RefSeq DNA:NT_025741, RefSeq Protein:NP_001137419, RefSeq Protein:NP_061847, RefSeq RNA:NM_001143947, RefSeq RNA:NM_018974, UCSC Genome Browser:NM_018974, UniProtKB:Q4QQJ4, UniProtKB:Q86WB7 No chr6 167704803 167729502 167269032 167316014 +PA37781 81622 HGNC:13481 ENSG00000110057 unc-93 homolog B1, TLR signaling regulator UNC93B1 unc-93 homolog B1 (C. elegans) UNC93 Yes No Comparative Toxicogenomics Database:81622, Ensembl:ENSG00000110057, GenAtlas:UNC93B1, GeneCard:UNC93B1, HGNC:HGNC:13481, HumanCyc Gene:HS12709, ModBase:Q9H1C4, NCBI Gene:81622, OMIM:608204, OMIM:610551, RefSeq DNA:NG_007581, RefSeq DNA:NT_079592, RefSeq DNA:NT_167190, RefSeq Protein:NP_112192, RefSeq RNA:NM_030930, UCSC Genome Browser:NM_030930, UniProtKB:Q05BS6, UniProtKB:Q58F16, UniProtKB:Q9H1C4 No chr11 67758575 67771593 67991100 68004125 +PA162408625 643384 HGNC:13484 ENSG00000250381 unc-93 homolog B4 pseudogene (C. elegans) UNC93B4 Yes No Ensembl:ENSG00000250381, GeneCard:UNC93B4, HGNC:HGNC:13484, NCBI Gene:643384, RefSeq DNA:NG_009674, RefSeq DNA:NT_006051 No chr4 4147309 4149522 4145582 4147795 +PA164727495 729196 HGNC:34051 ENSG00000184795 unc-93 homolog B5 pseudogene (C. elegans) UNC93B5 Yes No Ensembl:ENSG00000184795, HGNC:HGNC:34051, NCBI Gene:729196 No chr11 67478726 67483477 67711255 67716006 +PA162408631 255620 HGNC:34053 ENSG00000255562 unc-93 homolog B6 (C. elegans) UNC93B6 Yes No Ensembl:ENSG00000255562, GeneCard:UNC93B6, HGNC:HGNC:34053, NCBI Gene:255620, RefSeq DNA:NG_009705, RefSeq DNA:NT_167190 No chr11 71314210 71319090 71603260 71608044 +PA162408642 340260 HGNC:33194 ENSG00000164853 UNC homeobox UNCX Uncx4.1 Yes No Ensembl:ENSG00000164853, GeneCard:UNCX, HGNC:HGNC:33194, ModBase:A6NJT0, NCBI Gene:340260, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001073930, RefSeq RNA:NM_001080461, UniProtKB:A6NJT0 No chr7 1272654 1276613 1233018 1236977 +PA364 7374 HGNC:12572 ENSG00000076248 uracil DNA glycosylase UNG """uracil-DNA glycosylase"", ""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2""" DGU, HIGM4, UDG, UNG1, UNG2 Yes No Comparative Toxicogenomics Database:7374, Ensembl:ENSG00000076248, GenAtlas:UNG, GeneCard:UNG, HGNC:HGNC:12572, HumanCyc Gene:HS01204, ModBase:P13051, NCBI Gene:7374, OMIM:191525, OMIM:608106, RefSeq DNA:NG_007284, RefSeq DNA:NT_009775, RefSeq Protein:NP_003353, RefSeq Protein:NP_550433, RefSeq RNA:NM_003362, RefSeq RNA:NM_080911, UCSC Genome Browser:NM_003362, UniProtKB:P13051 No chr12 109535399 109548798 109097594 109110993 +PA38351 57004 HGNC:18579 ENSG00000260818 uracil-DNA glycosylase pseudogene 1 UNGP1 Yes No Ensembl:ENSG00000260818, GenAtlas:UNGP1, GeneCard:UNGP1, HGNC:HGNC:18579, NCBI Gene:57004, RefSeq DNA:NG_001287, RefSeq DNA:NT_010498 No chr16 51312585 51313616 51278674 51279705 +PA38352 57005 HGNC:18580 uracil-DNA glycosylase pseudogene 2 UNGP2 Yes No GenAtlas:UNGP2, GeneCard:UNGP2, HGNC:HGNC:18580, NCBI Gene:57005, RefSeq DNA:NG_001288, RefSeq DNA:NT_026437 No chr14 27394640 27395266 26925434 26926060 +PA134979693 319122 HGNC:20036 ENSG00000270343 uracil-DNA glycosylase pseudogene 3 UNGP3 Yes No Ensembl:ENSG00000270343, GeneCard:UNGP3, HGNC:HGNC:20036, NCBI Gene:319122, RefSeq DNA:NG_002503, RefSeq DNA:NT_026437 No chr14 81724691 81726583 81258328 81260234 +PA162408651 85451 HGNC:29369 ENSG00000132478 unk zinc finger UNK unkempt family zinc finger, unkempt homolog (Drosophila) KIAA1753, ZC3H5, ZC3HDC5 Yes No Comparative Toxicogenomics Database:85451, Ensembl:ENSG00000132478, GeneCard:UNK, HGNC:HGNC:29369, NCBI Gene:85451, RefSeq DNA:NT_010641, RefSeq DNA:NT_010783, RefSeq Protein:NP_001073888, RefSeq Protein:XP_036115, RefSeq Protein:XP_945996, RefSeq RNA:NM_001080419, RefSeq RNA:NR_038131, RefSeq RNA:XM_036115, RefSeq RNA:XM_940903, UniProtKB:Q9C0B0 No chr17 73780920 73821886 75784771 75825805 +PA37855 64718 HGNC:14184 ENSG00000059145 unk like zinc finger UNKL unkempt family zinc finger-like, unkempt homolog (Drosophila)-like C16orf28, FLJ23360, ZC3H5L, ZC3HDC5L Yes No Comparative Toxicogenomics Database:64718, Ensembl:ENSG00000059145, GenAtlas:UNKL, GeneCard:UNKL, HGNC:HGNC:14184, HumanCyc Gene:HS00727, ModBase:Q9H9P5, NCBI Gene:64718, RefSeq DNA:NT_010393, RefSeq Protein:NP_001032202, RefSeq Protein:NP_001180317, RefSeq Protein:NP_001180318, RefSeq Protein:NP_075564, RefSeq RNA:NM_001037125, RefSeq RNA:NM_001193388, RefSeq RNA:NM_001193389, RefSeq RNA:NM_023076, UCSC Genome Browser:NM_024023, UniProtKB:Q9H9P5 No chr16 1413206 1464750 1363205 1414749 +PA37208 391051 HGNC:12575 ENSG00000240520 urate oxidase, pseudogene UOX UOXP Yes No Ensembl:ENSG00000240520, GenAtlas:UOX, GeneCard:UOX, HGNC:HGNC:12575, NCBI Gene:391051, OMIM:191540, RefSeq DNA:NT_032977, RefSeq RNA:NR_003927 No chr1 84830641 84863576 84364958 84384801 +PA418 51733 HGNC:16297 ENSG00000100024 beta-ureidopropionase 1 UPB1 ureidopropionase, beta BUP1 Yes Yes Comparative Toxicogenomics Database:51733, Ensembl:ENSG00000100024, GenAtlas:UPB1, GeneCard:UPB1, HGNC:HGNC:16297, HumanCyc Gene:HS01953, ModBase:Q9UBR1, NCBI Gene:51733, OMIM:606673, OMIM:613161, RefSeq DNA:NG_012858, RefSeq DNA:NT_011520, RefSeq Protein:NP_057411, RefSeq RNA:NM_016327, UCSC Genome Browser:NM_016327, UniProtKB:B3KNC1, UniProtKB:Q9UBR1 No chr22 24863344 24922553 24495060 24528681 +PA34328 5976 HGNC:9962 ENSG00000005007 UPF1 RNA helicase and ATPase UPF1 """UP Frameshift 1"", ""UPF1 regulator of nonsense transcripts homolog (yeast)"", ""UPF1, RNA helicase and ATPase"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)""" HUPF1, KIAA0221, NORF1, RENT1, pNORF1, smg-2 Yes No Comparative Toxicogenomics Database:5976, Ensembl:ENSG00000005007, GenAtlas:UPF1, GeneCard:UPF1, HGNC:HGNC:9962, HumanCyc Gene:HS00123, ModBase:Q92900, NCBI Gene:5976, OMIM:601430, RefSeq DNA:NT_011295, RefSeq Protein:NP_002902, RefSeq RNA:NM_002911, UCSC Genome Browser:NM_002911, UniProtKB:Q92900 No chr19 18942744 18979039 18831926 18868232 +PA134945630 26019 HGNC:17854 ENSG00000151461 UPF2 regulator of nonsense mediated mRNA decay UPF2 """UPF2 regulator of nonsense transcripts homolog (yeast)"", ""UPF2, regulator of nonsense mediated mRNA decay"", ""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)""" DKFZP434D222, KIAA1408, RENT2, smg-3 Yes No Comparative Toxicogenomics Database:26019, Ensembl:ENSG00000151461, GeneCard:UPF2, HGNC:HGNC:17854, HumanCyc Gene:HS07736, ModBase:Q9Y4M9, NCBI Gene:26019, OMIM:605529, RefSeq DNA:NT_008705, RefSeq Protein:NP_056357, RefSeq Protein:NP_542166, RefSeq RNA:NM_015542, RefSeq RNA:NM_080599, UniProtKB:Q9HAU5 No chr10 11962021 12085169 11920022 12043170 +PA134961553 65110 HGNC:20332 ENSG00000169062 UPF3A regulator of nonsense mediated mRNA decay UPF3A """UPF3 regulator of nonsense transcripts homolog A (yeast)"", ""UPF3A, regulator of nonsense mediated mRNA decay""" HUPF3A, RENT3A, UPF3 Yes No Comparative Toxicogenomics Database:65110, Ensembl:ENSG00000169062, GeneCard:UPF3A, HGNC:HGNC:20332, HumanCyc Gene:HS09876, ModBase:Q9H1J1, NCBI Gene:65110, OMIM:605530, RefSeq DNA:NT_024498, RefSeq Protein:NP_075387, RefSeq Protein:NP_542418, RefSeq RNA:NM_023011, RefSeq RNA:NM_080687, UniProtKB:Q9H1J1 No chr13 115047059 115071292 114281584 114305817 +PA128394708 65109 HGNC:20439 ENSG00000125351 UPF3B regulator of nonsense mediated mRNA decay UPF3B """UPF3 regulator of nonsense transcripts homolog B (yeast)"", ""UPF3B, regulator of nonsense mediated mRNA decay""" HUPF3B, MRX62, MRX82, RENT3B, UPF3BP1, UPF3BP2, UPF3BP3, UPF3X Yes No Comparative Toxicogenomics Database:65109, Ensembl:ENSG00000125351, GeneCard:UPF3B, HGNC:HGNC:20439, HumanCyc Gene:HS04872, ModBase:Q9BZI7, NCBI Gene:65109, OMIM:300298, OMIM:300676, RefSeq DNA:NG_009241, RefSeq DNA:NT_011786, RefSeq Protein:NP_075386, RefSeq Protein:NP_542199, RefSeq RNA:NM_023010, RefSeq RNA:NM_080632, UCSC Genome Browser:NM_023010, UniProtKB:Q9BZI7 No chrX 118941115 118986991 119805311 119853028 +PA37209 11045 HGNC:12577 ENSG00000105668 uroplakin 1A UPK1A TSPAN21 Yes No Comparative Toxicogenomics Database:11045, Ensembl:ENSG00000105668, GenAtlas:UPK1A, GeneCard:UPK1A, HGNC:HGNC:12577, HumanCyc Gene:HS02786, NCBI Gene:11045, OMIM:611557, RefSeq DNA:NT_011109, RefSeq Protein:NP_008931, RefSeq RNA:NM_007000, UCSC Genome Browser:NM_007000, UniProtKB:O00322 No chr19 36157418 36169387 35666127 35678485 +PA37210 7348 HGNC:12578 ENSG00000114638 uroplakin 1B UPK1B TSPAN20, UPK1 Yes No Comparative Toxicogenomics Database:7348, Ensembl:ENSG00000114638, GenAtlas:UPK1B, GeneCard:UPK1B, HGNC:HGNC:12578, HumanCyc Gene:HS03784, NCBI Gene:7348, OMIM:602380, RefSeq DNA:NT_005612, RefSeq Protein:NP_008883, RefSeq RNA:NM_006952, UCSC Genome Browser:NM_006952, UniProtKB:O75841 No chr3 118892425 118924000 119173578 119205153 +PA37211 7379 HGNC:12579 ENSG00000110375 uroplakin 2 UPK2 uroplakin II, uroplakin-2 MGC138598, UP2, UPII Yes No Ensembl:ENSG00000110375, GenAtlas:UPK2, GeneCard:UPK2, HGNC:HGNC:12579, HumanCyc Gene:HS03305, ModBase:O00526, NCBI Gene:7379, OMIM:611558, RefSeq DNA:NT_033899, RefSeq Protein:NP_006751, RefSeq RNA:NM_006760, UCSC Genome Browser:NM_006760, UniProtKB:O00526 No chr11 118827008 118829269 118956298 118958559 +PA37212 7380 HGNC:12580 ENSG00000100373 uroplakin 3A UPK3A UPK3 Yes No Comparative Toxicogenomics Database:7380, Ensembl:ENSG00000100373, GeneCard:UPK3A, HGNC:HGNC:12580, HumanCyc Gene:HS02065, ModBase:O75631, NCBI Gene:7380, OMIM:191830, OMIM:611559, RefSeq DNA:NG_016203, RefSeq DNA:NT_011520, RefSeq Protein:NP_001161046, RefSeq Protein:NP_008884, RefSeq RNA:NM_001167574, RefSeq RNA:NM_006953, UCSC Genome Browser:NM_006953, UniProtKB:O75631 No chr22 45680868 45691755 45284987 45295874 +PA134952181 105375355 HGNC:21444 ENSG00000243566 uroplakin 3B UPK3B uroplakin IIIb FLJ32198, MGC10902, UPIIIb, p35 Yes No Ensembl:ENSG00000243566, GeneCard:UPK3B, HGNC:HGNC:21444, NCBI Gene:105375355, OMIM:611887, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_085047, RefSeq Protein:NP_872625, RefSeq RNA:NM_030570, RefSeq RNA:NM_182684, UniProtKB:Q9BT76 No chr7 +PA165618441 100134938 HGNC:37278 ENSG00000267368 uroplakin 3B like 1 UPK3BL1 uroplakin 3B-like, uroplakin-like protein UPK3BL, UPLP Yes No Ensembl:ENSG00000267368, GeneCard:UPK3BL, HGNC:HGNC:37278, NCBI Gene:100134938, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_001107875, RefSeq RNA:NM_001114403, UniProtKB:B0FP48 No chr7 102277472 102283238 102637025 102642791 +PA166181682 107983993 HGNC:53444 ENSG00000284981 uroplakin 3B like 2 UPK3BL2 Yes No Ensembl:ENSG00000284981, HGNC:HGNC:53444, NCBI Gene:107983993 No 0 0 0 0 +PA365 7378 HGNC:12576 ENSG00000183696 uridine phosphorylase 1 UPP1 UDRPASE, UP, UPASE, UPP Yes No Comparative Toxicogenomics Database:7378, Ensembl:ENSG00000183696, GeneCard:UPP1, HGNC:HGNC:12576, HumanCyc Gene:HS00053, ModBase:Q16831, NCBI Gene:7378, OMIM:191730, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_003355, RefSeq Protein:NP_853628, RefSeq RNA:NM_003364, RefSeq RNA:NM_181597, UCSC Genome Browser:NM_003364, UniProtKB:Q16831 No chr7 48128355 48148330 48088308 48108746 +PA134866434 151531 HGNC:23061 ENSG00000007001 uridine phosphorylase 2 UPP2 UDRPASE2, UP2, UPASE2 Yes No Comparative Toxicogenomics Database:151531, Ensembl:ENSG00000007001, GeneCard:UPP2, HGNC:HGNC:23061, HumanCyc Gene:HS00200, ModBase:O95045, NCBI Gene:151531, RefSeq DNA:NT_005403, RefSeq Protein:NP_001128570, RefSeq Protein:NP_775491, RefSeq RNA:NM_001135098, RefSeq RNA:NM_173355, UniProtKB:O95045 No chr2 158733213 158992666 157995179 158136154 +PA162408652 139596 HGNC:28334 ENSG00000094841 uracil phosphoribosyltransferase homolog UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) DKFZp781E1243, FUR1, MGC23937, RP11-311P8.3 Yes No Comparative Toxicogenomics Database:139596, Ensembl:ENSG00000094841, GeneCard:UPRT, HGNC:HGNC:28334, HumanCyc Gene:HS12350, ModBase:Q96BW1, NCBI Gene:139596, OMIM:300656, RefSeq DNA:NG_015972, RefSeq DNA:NT_011669, RefSeq Protein:NP_659489, RefSeq RNA:NM_145052, RefSeq RNA:NR_030774, UCSC Genome Browser:NM_145052, UniProtKB:A8KAF9, UniProtKB:Q96BW1 No chrX 74493894 74524732 75274059 75304897 +PA162408653 55245 HGNC:15891 ENSG00000101019 ubiquinol-cytochrome c reductase complex assembly factor 1 UQCC1 Basic FGF-repressed Zic-binding protein, cytochrome B protein synthesis 3 homolog (S. cerevisiae), ubiquinol-cytochrome c reductase complex chaperone BFZB, C20orf44, CBP3, FLJ10850, UQCC Yes No Ensembl:ENSG00000101019, GeneCard:UQCC, HGNC:HGNC:15891, HumanCyc Gene:HS12434, NCBI Gene:55245, OMIM:611797, OMIM:612228, RefSeq DNA:NG_021421, RefSeq DNA:NT_011362, RefSeq Protein:NP_001171906, RefSeq Protein:NP_060714, RefSeq Protein:NP_955781, RefSeq RNA:NM_001184977, RefSeq RNA:NM_018244, RefSeq RNA:NM_199487, UniProtKB:B1AKV5, UniProtKB:B7ZBG3, UniProtKB:Q3KRB6, UniProtKB:Q9NVA1 No chr20 33890369 33999945 35302566 35412142 +PA134970806 84300 HGNC:21237 ENSG00000137288 ubiquinol-cytochrome c reductase complex assembly factor 2 UQCC2 cytochrome B protein synthesis 6 homolog (S. cerevisiae), mitochondrial nucleoid factor 1 C6orf125, Cbp6, M19, MGC14833, MNF1, bA6B20.2 Yes No Ensembl:ENSG00000137288, GeneCard:C6orf125, HGNC:HGNC:21237, HumanCyc Gene:HS13672, NCBI Gene:84300, RefSeq DNA:NT_007592, RefSeq Protein:NP_115716, RefSeq RNA:NM_032340, UniProtKB:Q9BRT2 No chr6 33664538 33679528 33696761 33711751 +PA162377760 790955 HGNC:34399 ENSG00000204922 ubiquinol-cytochrome c reductase complex assembly factor 3 UQCC3 chromosome 11 open reading frame 83 C11orf83, UNQ655 Yes No Ensembl:ENSG00000204922, GeneCard:C11orf83, HGNC:HGNC:34399, NCBI Gene:790955, RefSeq DNA:NT_167190, RefSeq Protein:NP_001078841, RefSeq RNA:NM_001085372, UniProtKB:Q6UW78 No chr11 62439126 62441162 62671654 62673690 +PA164716853 283951 HGNC:27558 ENSG00000174109 ubiquinol-cytochrome c reductase complex assembly factor 4 UQCC4 cattle cerebrum and skeletal muscle-specific protein 1 family member, chromosome 16 open reading frame 91 C16orf91, CCSMST1, URLC5, gs103 Yes No Ensembl:ENSG00000174109, GeneCard:C16orf91, HGNC:HGNC:27558, NCBI Gene:283951, RefSeq DNA:NT_010393, RefSeq Protein:NP_001010878, RefSeq RNA:NM_001010878, UniProtKB:Q4G0I0 No chr16 1469745 1470801 1419744 1420800 +PA165696922 440957 HGNC:37257 ENSG00000168273 ubiquinol-cytochrome c reductase complex assembly factor 5 UQCC5 small integral membrane protein 4 C3orf78, SMIM4 Yes No Ensembl:ENSG00000168273, GeneCard:C3orf78, HGNC:HGNC:37257, NCBI Gene:440957, RefSeq DNA:NT_022517, RefSeq Protein:NP_001118239, RefSeq RNA:NM_001124767, UniProtKB:Q8WVI0 No chr3 52570002 52574586 52535986 52540570 +PA164716790 728568 HGNC:34450 ENSG00000204954 ubiquinol-cytochrome c reductase complex assembly factor 6 UQCC6 brawnin, chromosome 12 open reading frame 73 BR, C12orf73, DKFZp547P055, FLJ13975 Yes No Ensembl:ENSG00000204954, GeneCard:C12orf73, HGNC:HGNC:34450, NCBI Gene:728568, RefSeq DNA:NT_029419, RefSeq Protein:NP_001129042, RefSeq RNA:NM_001135570, UniProtKB:Q69YU5 No chr12 104343980 104350993 103950202 103965725 +PA165378374 29796 HGNC:30863 ENSG00000184076 ubiquinol-cytochrome c reductase, complex III subunit X UQCR10 """complex III subunit 9"", ""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa""" HSPC051, QCR9, UCCR7.2, UCRC Yes No Ensembl:ENSG00000184076, GeneCard:UQCR10, HGNC:HGNC:30863, HumanCyc Gene:HS15855, NCBI Gene:29796, OMIM:610843, RefSeq DNA:NT_011520, RefSeq Protein:NP_001003684, RefSeq Protein:NP_037519, RefSeq RNA:NM_001003684, RefSeq RNA:NM_013387, UniProtKB:B5MCM5, UniProtKB:Q9UDW1 No chr22 30163358 30166402 29767369 29770413 +PA165394505 10975 HGNC:30862 ENSG00000127540 ubiquinol-cytochrome c reductase, complex III subunit XI UQCR11 complex III subunit 10 QCR10, UQCR Yes No Comparative Toxicogenomics Database:10975, Ensembl:ENSG00000127540, GeneCard:UQCR11, HGNC:HGNC:30862, HumanCyc Gene:HS05111, ModBase:O14957, NCBI Gene:10975, OMIM:609711, RefSeq DNA:NT_011255, RefSeq Protein:NP_006821, RefSeq RNA:NM_006830, UniProtKB:O14957 No chr19 1597154 1605483 1597155 1605484 +PA37213 7381 HGNC:12582 ENSG00000156467 ubiquinol-cytochrome c reductase binding protein UQCRB """cytochrome b-c1 complex subunit 7"", ""ubiquinol-cytochrome c reductase, complex III subunit VI""" QCR7, QP-C, UQBP, UQCR6 Yes No Comparative Toxicogenomics Database:7381, Ensembl:ENSG00000156467, GenAtlas:UQCRB, GeneCard:UQCRB, HGNC:HGNC:12582, HumanCyc Gene:HS08128, ModBase:P14927, NCBI Gene:7381, OMIM:124000, OMIM:191330, RefSeq DNA:NG_008237, RefSeq DNA:NT_008046, RefSeq Protein:NP_001186904, RefSeq Protein:NP_006285, RefSeq RNA:NM_001199975, RefSeq RNA:NM_006294, UCSC Genome Browser:NM_006294, UniProtKB:P14927 No chr8 97238904 97247862 96226676 96235634 +PA37214 442454 HGNC:12583 ENSG00000237748 ubiquinol-cytochrome c reductase binding protein pseudogene 1 UQCRBP1 Yes No Ensembl:ENSG00000237748, GenAtlas:UQCRBP1, GeneCard:UQCRBP1, HGNC:HGNC:12583, NCBI Gene:442454 No chrX 56763221 56764017 56736788 56737584 +PA37215 100130719 HGNC:12584 ENSG00000227941 ubiquinol-cytochrome c reductase binding protein pseudogene 2 UQCRBP2 Yes No Ensembl:ENSG00000227941, GenAtlas:UQCRBP2, GeneCard:UQCRBP2, HGNC:HGNC:12584, NCBI Gene:100130719 No chr1 162511122 162511449 162541332 162541659 +PA37216 7384 HGNC:12585 ENSG00000010256 ubiquinol-cytochrome c reductase core protein 1 UQCRC1 ubiquinol-cytochrome c reductase core protein I D3S3191, QCR1, UQCR1 Yes No Comparative Toxicogenomics Database:7384, Ensembl:ENSG00000010256, GenAtlas:UQCRC1, GeneCard:UQCRC1, HGNC:HGNC:12585, HumanCyc Gene:HS00277, ModBase:P31930, NCBI Gene:7384, OMIM:191328, RefSeq DNA:NT_022517, RefSeq Protein:NP_003356, RefSeq RNA:NM_003365, UCSC Genome Browser:NM_003365, UniProtKB:P31930 No chr3 48636432 48647391 48598999 48609665 +PA37217 7385 HGNC:12586 ENSG00000140740 ubiquinol-cytochrome c reductase core protein 2 UQCRC2 ubiquinol-cytochrome c reductase core protein II QCR2, UQCR2 Yes No Comparative Toxicogenomics Database:7385, Ensembl:ENSG00000140740, GenAtlas:UQCRC2, GeneCard:UQCRC2, HGNC:HGNC:12586, HumanCyc Gene:HS06753, ModBase:P22695, NCBI Gene:7385, OMIM:191329, RefSeq DNA:NT_010393, RefSeq Protein:NP_003357, RefSeq RNA:NM_003366, UCSC Genome Browser:NM_003366, UniProtKB:P22695 No chr16 21964609 21994668 21953064 21983660 +PA37218 7386 HGNC:12587 ENSG00000169021 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 UQCRFS1 cytochrome b-c1 complex subunit 5 RIP1, RIS1, RISP, UQCR5 Yes No Comparative Toxicogenomics Database:7386, Ensembl:ENSG00000169021, GenAtlas:UQCRFS1, GeneCard:UQCRFS1, HGNC:HGNC:12587, HumanCyc Gene:HS09867, HumanCyc Gene:HS10516, ModBase:P47985, NCBI Gene:7386, OMIM:191327, RefSeq DNA:NT_011109, RefSeq Protein:NP_005994, RefSeq RNA:NM_006003, UCSC Genome Browser:NM_006003, UniProtKB:P47985 No chr19 29698167 29704136 29207260 29213229 +PA37219 100128525 HGNC:12588 ENSG00000226085 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1 UQCRFS1P1 Yes No Ensembl:ENSG00000226085, GenAtlas:UQCRFSL1, GeneCard:UQCRFS1P1, HGNC:HGNC:12588, NCBI Gene:100128525, RefSeq DNA:NG_009458, RefSeq DNA:NT_011520 No chr22 40271300 40272312 39875296 39876308 +PA37220 7388 HGNC:12590 ENSG00000173660 ubiquinol-cytochrome c reductase hinge protein UQCRH ubiquinol-cytochrome c reductase, complex III subunit VIII QCR6, UQCR8 Yes No Comparative Toxicogenomics Database:7388, Ensembl:ENSG00000173660, GenAtlas:UQCRH, GeneCard:UQCRH, HGNC:HGNC:12590, HumanCyc Gene:HS10708, ModBase:P07919, NCBI Gene:7388, RefSeq DNA:NT_032977, RefSeq Protein:NP_005995, RefSeq RNA:NM_006004, UCSC Genome Browser:NM_006004, UniProtKB:P07919 No chr1 46769324 46782448 46303613 46316777 +PA166181683 440567 HGNC:51714 ENSG00000233954 ubiquinol-cytochrome c reductase hinge protein like UQCRHL Yes No Ensembl:ENSG00000233954, HGNC:HGNC:51714, NCBI Gene:440567 No 0 0 0 0 +PA134916582 100130756 HGNC:31341 ENSG00000230622 ubiquinol-cytochrome c reductase hinge protein pseudogene 1 UQCRHP1 Em:AF129756.18 Yes No Ensembl:ENSG00000230622, GeneCard:UQCRHP1, HGNC:HGNC:31341, NCBI Gene:100130756 No chr6 31578860 31579133 31611083 31611356 +PA142670637 27089 HGNC:29594 ENSG00000164405 ubiquinol-cytochrome c reductase complex III subunit VII UQCRQ """complex III subunit 8"", ""ubiquinol-cytochrome c reductase, complex III subunit VII"", ""ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa""" QCR8, QP-C, UQCR7 Yes No Comparative Toxicogenomics Database:27089, Ensembl:ENSG00000164405, GeneCard:UQCRQ, HGNC:HGNC:29594, HumanCyc Gene:HS09077, ModBase:O14949, NCBI Gene:27089, OMIM:124000, OMIM:612080, RefSeq DNA:NG_012221, RefSeq DNA:NT_034772, RefSeq Protein:NP_055217, RefSeq RNA:NM_014402, UniProtKB:O14949 No chr5 132202319 132204536 132866627 132868844 +PA142671135 646625 HGNC:17785 ENSG00000183463 ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase URAD OHCU decarboxylase, parahox cluster neighbor PRHOXNB, URAD Yes No Ensembl:ENSG00000183463, GeneCard:PRHOXNB, HGNC:HGNC:17785, ModBase:A6NGE7, NCBI Gene:646625, RefSeq DNA:NT_024524, RefSeq Protein:NP_001099047, RefSeq RNA:NM_001105577, UniProtKB:A6NGE7 No chr13 28552243 28562774 27978106 27988637 +PA162408676 9875 HGNC:17344 ENSG00000142207 URB1 ribosome biogenesis homolog URB1 URB1 ribosome biogenesis 1 homolog (S. cerevisiae), nucleolar preribosomal-associated protein 1 C21orf108, KIAA0539, NPA1 Yes No Ensembl:ENSG00000142207, GeneCard:URB1, HGNC:HGNC:17344, HumanCyc Gene:HS06907, NCBI Gene:9875, OMIM:608865, RefSeq DNA:NT_011512, RefSeq Protein:NP_055640, RefSeq RNA:NM_014825, UniProtKB:O60287 No chr21 33683330 33765312 32311019 32393003 +PA164727496 9816 HGNC:28967 ENSG00000135763 URB2 ribosome biogenesis homolog URB2 URB2 ribosome biogenesis 2 homolog (S. cerevisiae), nucleolar preribosomal-associated protein 1, nucleolar preribosomal-associated protein 2 KIAA0133, NET10, NPA2 Yes No Ensembl:ENSG00000135763, GeneCard:URB2, HGNC:HGNC:28967, HumanCyc Gene:HS06059, NCBI Gene:9816, RefSeq DNA:NT_004559, RefSeq DNA:NT_167186, RefSeq Protein:NP_055592, RefSeq RNA:NM_014777, UniProtKB:Q14146 No chr1 229761981 229795946 229626216 229660200 +PA165618458 55665 HGNC:30890 ENSG00000106608 upregulator of cell proliferation URGCP up-regulated gene 4 DKFZp666G166, DKFZp686O0457, FLJ20654, KIAA1507, URG4 Yes No Ensembl:ENSG00000106608, GeneCard:URGCP, HGNC:HGNC:30890, HumanCyc Gene:HS12638, NCBI Gene:55665, OMIM:610337, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001071131, RefSeq Protein:NP_001071132, RefSeq Protein:NP_060390, RefSeq RNA:NM_001077663, RefSeq RNA:NM_001077664, RefSeq RNA:NM_017920, UniProtKB:Q8TCY9 No chr7 43915485 43965996 43875894 43926411 +PA134962614 8725 HGNC:13236 ENSG00000105176 URI1 prefoldin like chaperone URI1 """RPB5-mediating protein"", ""URI1, prefoldin like chaperone"", ""URI1, prefoldin-like chaperone"", ""protein phosphatase 1, regulatory subunit 19"", ""unconventional prefoldin RPB5 interactor""" C19orf2, FLJ10575, NNX3, PPP1R19, RMP, URI Yes No Ensembl:ENSG00000105176, GeneCard:C19orf2, HGNC:HGNC:13236, HumanCyc Gene:HS02685, NCBI Gene:8725, OMIM:603494, RefSeq DNA:NT_011109, RefSeq Protein:NP_003787, RefSeq Protein:NP_604431, RefSeq RNA:NM_003796, RefSeq RNA:NM_134447, UniProtKB:O94763, UniProtKB:Q6NX55 No chr19 30414551 30507519 29923644 30016612 +PA162408677 81605 HGNC:28378 ENSG00000167118 ubiquitin related modifier 1 URM1 C9orf74, MGC2668 Yes No Ensembl:ENSG00000167118, GeneCard:URM1, HGNC:HGNC:28378, HumanCyc Gene:HS15524, ModBase:Q9BTM9, NCBI Gene:81605, OMIM:612693, RefSeq DNA:NT_008470, RefSeq Protein:NP_001129419, RefSeq Protein:NP_112176, RefSeq RNA:NM_001135947, RefSeq RNA:NM_030914, UniProtKB:B4DV08, UniProtKB:Q9BTM9 No chr9 131133598 131154295 128371319 128392016 +PA134879207 131669 HGNC:26444 ENSG00000159650 urocanate hydratase 1 UROC1 urocanase 1 FLJ31300, HMFN0320 Yes No Comparative Toxicogenomics Database:131669, Ensembl:ENSG00000159650, GeneCard:UROC1, HGNC:HGNC:26444, HumanCyc Gene:HS08413, ModBase:Q96N76, NCBI Gene:131669, OMIM:276880, OMIM:613012, RefSeq DNA:NG_016286, RefSeq DNA:NT_005612, RefSeq Protein:NP_001159446, RefSeq Protein:NP_653240, RefSeq RNA:NM_001165974, RefSeq RNA:NM_144639, UniProtKB:Q68CJ7, UniProtKB:Q96N76 No chr3 126200008 126236616 126481165 126517773 +PA37221 7389 HGNC:12591 ENSG00000126088 uroporphyrinogen decarboxylase UROD Yes No Comparative Toxicogenomics Database:7389, Ensembl:ENSG00000126088, GenAtlas:UROD, GeneCard:UROD, HGNC:HGNC:12591, HumanCyc Gene:HS04993, ModBase:P06132, NCBI Gene:7389, OMIM:176100, OMIM:613521, RefSeq DNA:NG_007122, RefSeq DNA:NT_032977, RefSeq Protein:NP_000365, RefSeq RNA:NM_000374, RefSeq RNA:NR_036510, UCSC Genome Browser:NM_000374, UniProtKB:P06132 No chr1 45477805 45481341 45012133 45015669 +PA37222 7390 HGNC:12592 ENSG00000188690 uroporphyrinogen III synthase UROS congenital erythropoietic porphyria Yes No Comparative Toxicogenomics Database:7390, Ensembl:ENSG00000188690, GenAtlas:UROS, GeneCard:UROS, HGNC:HGNC:12592, HumanCyc Gene:HS07569, ModBase:P10746, NCBI Gene:7390, OMIM:263700, OMIM:606938, RefSeq DNA:NG_011557, RefSeq DNA:NT_030059, RefSeq Protein:NP_000366, RefSeq RNA:NM_000375, UCSC Genome Browser:NM_000375, UniProtKB:P10746 No chr10 127474091 127511837 125784980 125823268 +PA143485394 79650 HGNC:25792 ENSG00000103005 U6 snRNA biogenesis phosphodiesterase 1 USB1 HVSL motif containing 1, U six biogenesis 1, U6 snRNA biogenesis 1, mutated in poikiloderma with neutropenia protein 1, poikiloderma with neutropenia C16orf57, FLJ13154, HVSL1, Mpn1 Yes No Ensembl:ENSG00000103005, GeneCard:C16orf57, HGNC:HGNC:25792, HumanCyc Gene:HS12505, ModBase:Q9BQ65, NCBI Gene:79650, OMIM:604173, OMIM:613276, RefSeq DNA:NT_010498, RefSeq Protein:NP_001182231, RefSeq Protein:NP_001191840, RefSeq Protein:NP_078874, RefSeq RNA:NM_001195302, RefSeq RNA:NM_001204911, RefSeq RNA:NM_024598, UniProtKB:Q8NBB4, UniProtKB:Q9BQ65 No chr16 58033450 58055527 57999600 58021623 +PA162408692 55850 HGNC:30882 ENSG00000053501 unconventional SNARE in the ER 1 USE1 Q-SNARE, SNARE-like tail-anchored protein 1 homolog (S. cerevisiae), unconventional SNARE in the ER 1 homolog (S. cerevisiae) D12, MDS032, SLT1, p31 Yes No Ensembl:ENSG00000053501, GeneCard:USE1, HGNC:HGNC:30882, HumanCyc Gene:HS12131, ModBase:Q9NZ43, NCBI Gene:55850, OMIM:610675, RefSeq DNA:NT_011295, RefSeq Protein:NP_060937, RefSeq RNA:NM_018467, UniProtKB:Q9NZ43 No chr19 17326155 17330638 17214528 17219831 +PA37223 7391 HGNC:12593 ENSG00000158773 upstream transcription factor 1 USF1 MLTFI, UEF, bHLHb11 Yes No Comparative Toxicogenomics Database:7391, Ensembl:ENSG00000158773, GenAtlas:USF1, GeneCard:USF1, HGNC:HGNC:12593, HumanCyc Gene:HS08327, ModBase:P22415, NCBI Gene:7391, OMIM:144250, OMIM:191523, OMIM:602491, RefSeq DNA:NG_011612, RefSeq DNA:NT_004487, RefSeq Protein:NP_009053, RefSeq Protein:NP_996888, RefSeq RNA:NM_007122, RefSeq RNA:NM_207005, UCSC Genome Browser:NM_007122, UniProtKB:P22415, UniProtKB:Q7Z5Y1 No chr1 161009041 161015769 161039251 161045979 +PA37224 7392 HGNC:12594 ENSG00000105698 upstream transcription factor 2, c-fos interacting USF2 FIP, bHLHb12 Yes No Ensembl:ENSG00000105698, GenAtlas:USF2, GeneCard:USF2, HGNC:HGNC:12594, HumanCyc Gene:HS02797, ModBase:Q15853, NCBI Gene:7392, OMIM:600390, RefSeq DNA:NT_011109, RefSeq Protein:NP_003358, RefSeq Protein:NP_997174, RefSeq RNA:NM_003367, RefSeq RNA:NM_207291, UCSC Genome Browser:NM_003367, UniProtKB:Q15853 No chr19 35759896 35770724 35268978 35279821 +PA142671594 205717 HGNC:30494 ENSG00000176542 upstream transcription factor family member 3 USF3 KIAA2018 Yes No Ensembl:ENSG00000176542, GeneCard:KIAA2018, HGNC:HGNC:30494, NCBI Gene:205717, RefSeq DNA:NT_005612, RefSeq Protein:NP_001009899, RefSeq RNA:NM_001009899, UniProtKB:Q68DE3 No chr3 113367232 113415493 113648385 113696657 +PA37226 10083 HGNC:12597 ENSG00000006611 USH1 protein network component harmonin USH1C Usher syndrome 1C (autosomal recessive, severe) AIE-75, DFNB18, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C, harmonin Yes No Comparative Toxicogenomics Database:10083, Ensembl:ENSG00000006611, GenAtlas:USH1C, GeneCard:USH1C, HGNC:HGNC:12597, HumanCyc Gene:HS00186, ModBase:Q9Y6N9, NCBI Gene:10083, OMIM:276904, OMIM:602092, OMIM:605242, RefSeq DNA:NG_011883, RefSeq DNA:NT_009237, RefSeq Protein:NP_005700, RefSeq Protein:NP_710142, RefSeq RNA:NM_005709, RefSeq RNA:NM_153676, UCSC Genome Browser:NM_005709, UniProtKB:Q7RTU8, UniProtKB:Q9Y6N9 No chr11 17515442 17565963 17493895 17544416 +PA38126 124590 HGNC:16356 ENSG00000182040 USH1 protein network component sans USH1G Usher syndrome 1G (autosomal recessive) ANKS4A, FLJ33924, Sans Yes No Comparative Toxicogenomics Database:124590, Ensembl:ENSG00000182040, GenAtlas:USH1G, GeneCard:USH1G, HGNC:HGNC:16356, HumanCyc Gene:HS17770, ModBase:Q495M9, NCBI Gene:124590, OMIM:606943, OMIM:607696, RefSeq DNA:NG_007882, RefSeq DNA:NT_010783, RefSeq Protein:NP_775748, RefSeq RNA:NM_173477, UCSC Genome Browser:NM_173477, UniProtKB:Q495M9 No chr17 72912176 72919351 74916083 74923263 +PA37228 7399 HGNC:12601 ENSG00000042781 usherin USH2A """Usher syndrome 2A (autosomal recessive, mild)"", ""usherin""" RP39, USH2 Yes Yes Comparative Toxicogenomics Database:7399, Ensembl:ENSG00000042781, GenAtlas:USH2A, GeneCard:USH2A, HGNC:HGNC:12601, HumanCyc Gene:HS00563, ModBase:O75445, NCBI Gene:7399, OMIM:268000, OMIM:276901, OMIM:608400, RefSeq DNA:NG_009497, RefSeq DNA:NT_167186, RefSeq Protein:NP_009054, RefSeq Protein:NP_996816, RefSeq RNA:NM_007123, RefSeq RNA:NM_206933, UCSC Genome Browser:NM_007123, UniProtKB:O75445 No chr1 215796236 216596738 215622894 216423396 +PA134909077 83878 HGNC:24058 ENSG00000130307 USH1 protein network component harmonin binding protein 1 USHBP1 Usher syndrome 1C binding protein 1 AIEBP, FLJ38709, MCC2 Yes No Comparative Toxicogenomics Database:83878, Ensembl:ENSG00000130307, GeneCard:USHBP1, HGNC:HGNC:24058, HumanCyc Gene:HS13328, ModBase:Q8N6Y0, NCBI Gene:83878, OMIM:611810, RefSeq DNA:NT_011295, RefSeq Protein:NP_114147, RefSeq RNA:NM_031941, UniProtKB:Q8N6Y0 No chr19 17360537 17375605 17250021 17264796 +PA162408713 8615 HGNC:30904 ENSG00000138768 USO1 vesicle transport factor USO1 transcytosis associated protein, vesicle docking protein TAP, VDP, p115 Yes No Ensembl:ENSG00000138768, GeneCard:USO1, HGNC:HGNC:30904, HumanCyc Gene:HS06553, ModBase:O60763, NCBI Gene:8615, OMIM:603344, RefSeq DNA:NT_016354, RefSeq Protein:NP_003706, RefSeq RNA:NM_003715, UniProtKB:O60763 No chr4 76649829 76735366 75724522 75814289 +PA37233 7398 HGNC:12607 ENSG00000162607 ubiquitin specific peptidase 1 USP1 Ubiquitinyl hydrolase 1, Ubiquitin carboxyl-terminal hydrolase 1, ubiquitin thiolesterase 1 Yes No Comparative Toxicogenomics Database:7398, Ensembl:ENSG00000162607, GenAtlas:USP1, GeneCard:USP1, HGNC:HGNC:12607, HumanCyc Gene:HS08702, ModBase:O94782, NCBI Gene:7398, OMIM:603478, RefSeq DNA:NT_032977, RefSeq Protein:NP_001017415, RefSeq Protein:NP_001017416, RefSeq Protein:NP_003359, RefSeq RNA:NM_001017415, RefSeq RNA:NM_001017416, RefSeq RNA:NM_003368, UCSC Genome Browser:NM_003368, UniProtKB:O94782 No chr1 62901975 62917475 62436304 62451804 +PA37234 9100 HGNC:12608 ENSG00000103194 ubiquitin specific peptidase 10 USP10 KIAA0190, UBPO Yes No Comparative Toxicogenomics Database:9100, Ensembl:ENSG00000103194, GenAtlas:USP10, GeneCard:USP10, HGNC:HGNC:12608, HumanCyc Gene:HS02469, ModBase:Q14694, NCBI Gene:9100, OMIM:609818, RefSeq DNA:NT_010498, RefSeq Protein:NP_005144, RefSeq RNA:NM_005153, UCSC Genome Browser:NM_005153, UniProtKB:Q14694 No chr16 84733555 84813528 84699949 84779922 +PA134936135 780779 HGNC:31752 ubiquitin specific peptidase 10 pseudogene 1 USP10P1 Yes No GeneCard:USP10P1, HGNC:HGNC:31752, NCBI Gene:780779, RefSeq DNA:NG_005813, RefSeq DNA:NT_026437 No chr14 20145909 20149106 19677750 19680947 +PA37235 8237 HGNC:12609 ENSG00000102226 ubiquitin specific peptidase 11 USP11 UHX1 Yes No Comparative Toxicogenomics Database:8237, Ensembl:ENSG00000102226, GenAtlas:USP11, GeneCard:USP11, HGNC:HGNC:12609, HumanCyc Gene:HS02370, ModBase:P51784, NCBI Gene:8237, OMIM:300050, RefSeq DNA:NG_012546, RefSeq DNA:NT_079573, RefSeq Protein:NP_004642, RefSeq RNA:NM_004651, UCSC Genome Browser:NM_004651, UniProtKB:P51784 No chrX 47092089 47107727 47232915 47248328 +PA37236 219333 HGNC:20485 ENSG00000152484 ubiquitin specific peptidase 12 USP12 USP12L1 Yes No Ensembl:ENSG00000152484, GenAtlas:USP12, GeneCard:USP12, HGNC:HGNC:20485, ModBase:O75317, NCBI Gene:219333, RefSeq DNA:NT_024524, RefSeq Protein:NP_872294, RefSeq RNA:NM_182488, UniProtKB:O75317 No chr13 27640287 27746033 27066150 27171896 +PA134878062 9959 HGNC:12610 ENSG00000253213 ubiquitin specific peptidase 12 pseudogene 1 USP12P1 Yes No Ensembl:ENSG00000253213, GeneCard:USP12P1, HGNC:HGNC:12610, NCBI Gene:9959, OMIM:603091, RefSeq DNA:NG_002822, RefSeq DNA:NT_023133 No chr5 170678647 170680956 171251643 171253952 +PA134919012 254700 HGNC:21410 ENSG00000226081 ubiquitin specific peptidase 12 pseudogene, X-linked USP12PX Yes No Ensembl:ENSG00000226081, HGNC:HGNC:21410, NCBI Gene:254700, RefSeq DNA:NG_002823, RefSeq DNA:NT_011651 No chrX 89367445 89369728 90112446 90114729 +PA134890301 359799 HGNC:23195 ENSG00000232927 ubiquitin specific peptidase 12 pseudogene, Y-linked USP12PY Yes No Ensembl:ENSG00000232927, HGNC:HGNC:23195, NCBI Gene:359799, RefSeq DNA:NG_002824, RefSeq DNA:NT_011896 No chrY 3550599 3552883 3682558 3684842 +PA37237 8975 HGNC:12611 ENSG00000058056 ubiquitin specific peptidase 13 USP13 isopeptidase T-3, ubiquitin specific peptidase 13 (isopeptidase T-3) IsoT-3 Yes No Comparative Toxicogenomics Database:8975, Ensembl:ENSG00000058056, GenAtlas:USP13, GeneCard:USP13, HGNC:HGNC:12611, HumanCyc Gene:HS00715, ModBase:Q92995, NCBI Gene:8975, OMIM:603591, RefSeq DNA:NT_005612, RefSeq Protein:NP_003931, RefSeq RNA:NM_003940, UCSC Genome Browser:NM_003940, UniProtKB:Q92995 No chr3 179370933 179507189 179653145 179789401 +PA37238 9097 HGNC:12612 ENSG00000101557 ubiquitin specific peptidase 14 USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) TGT, Ubp6 Yes No Comparative Toxicogenomics Database:9097, Ensembl:ENSG00000101557, GenAtlas:USP14, GeneCard:USP14, HGNC:HGNC:12612, HumanCyc Gene:HS02289, ModBase:P54578, NCBI Gene:9097, OMIM:607274, RefSeq DNA:NT_010859, RefSeq Protein:NP_001032411, RefSeq Protein:NP_005142, RefSeq RNA:NM_001037334, RefSeq RNA:NM_005151, UCSC Genome Browser:NM_005151, UniProtKB:A6NJA2, UniProtKB:P54578 No chr18 158483 213739 158483 213739 +PA37239 9958 HGNC:12613 ENSG00000135655 ubiquitin specific peptidase 15 USP15 KIAA0529, UNPH4 Yes No Comparative Toxicogenomics Database:9958, Ensembl:ENSG00000135655, GenAtlas:USP15, GeneCard:USP15, HGNC:HGNC:12613, HumanCyc Gene:HS06045, ModBase:Q9Y4E8, NCBI Gene:9958, OMIM:604731, RefSeq DNA:NT_029419, RefSeq Protein:NP_006304, RefSeq RNA:NM_006313, UCSC Genome Browser:NM_006313, UniProtKB:Q9Y4E8 No chr12 62654121 62803501 62260340 62409721 +PA37240 10600 HGNC:12614 ENSG00000156256 ubiquitin specific peptidase 16 USP16 Ubp-M Yes No Comparative Toxicogenomics Database:10600, Ensembl:ENSG00000156256, GenAtlas:USP16, GeneCard:USP16, HGNC:HGNC:12614, HumanCyc Gene:HS08110, ModBase:Q8NEL3, NCBI Gene:10600, OMIM:604735, RefSeq DNA:NT_011512, RefSeq Protein:NP_001001992, RefSeq Protein:NP_001027582, RefSeq Protein:NP_006438, RefSeq RNA:NM_001001992, RefSeq RNA:NM_001032410, RefSeq RNA:NM_006447, UCSC Genome Browser:NM_006447, UniProtKB:Q9Y5T5 No chr21 30396938 30426809 29024617 29054488 +PA166123752 401447 HGNC:37182 ENSG00000230549 ubiquitin specific peptidase 17 like family member 1 USP17L1 ubiquitin specific peptidase 17-like family member 1 USP17L1P Yes No Ensembl:ENSG00000230549, HGNC:HGNC:37182, NCBI Gene:401447 No +PA166049128 100287144 HGNC:44438 ENSG00000231396 ubiquitin specific peptidase 17 like family member 10 USP17L10 ubiquitin specific peptidase 17-like family member 10 Yes No Ensembl:ENSG00000231396, HGNC:HGNC:44438, NCBI Gene:100287144 No chr4 9212383 9213975 9210657 9212249 +PA166049129 100287178 HGNC:44439 ENSG00000233136 ubiquitin specific peptidase 17 like family member 11 USP17L11 ubiquitin specific peptidase 17-like family member 11 Yes No Ensembl:ENSG00000233136, HGNC:HGNC:44439, NCBI Gene:100287178 No chr4 9217131 9218723 9215405 9216997 +PA166049130 100287205 HGNC:44440 ENSG00000227551 ubiquitin specific peptidase 17 like family member 12 USP17L12 ubiquitin specific peptidase 17-like family member 12 Yes No Ensembl:ENSG00000227551, HGNC:HGNC:44440, NCBI Gene:100287205 No chr4 9221878 9223470 9220152 9221744 +PA166049131 100287238 HGNC:44441 ENSG00000232399 ubiquitin specific peptidase 17 like family member 13 USP17L13 ubiquitin specific peptidase 17-like family member 13 Yes No Ensembl:ENSG00000232399, HGNC:HGNC:44441, NCBI Gene:100287238 No chr4 9226622 9228214 9224896 9226488 +PA166049132 100288520 HGNC:44443 ENSG00000223569 ubiquitin specific peptidase 17 like family member 15 USP17L15 ubiquitin specific peptidase 17-like family member 15 Yes No Ensembl:ENSG00000223569, HGNC:HGNC:44443, NCBI Gene:100288520 No chr4 9236111 9238060 9234385 9236334 +PA166049133 100287327 HGNC:44445 ENSG00000249104 ubiquitin specific peptidase 17 like family member 17 USP17L17 ubiquitin specific peptidase 17-like family member 17 Yes No Ensembl:ENSG00000249104, HGNC:HGNC:44445, NCBI Gene:100287327 No chr4 9245605 9247197 9243879 9245471 +PA166049134 100287364 HGNC:44446 ENSG00000250844 ubiquitin specific peptidase 17 like family member 18 USP17L18 ubiquitin specific peptidase 17-like family member 18 Yes No Ensembl:ENSG00000250844, HGNC:HGNC:44446, NCBI Gene:100287364 No chr4 9250356 9251948 9248630 9250222 +PA166049135 100287404 HGNC:44447 ENSG00000248920 ubiquitin specific peptidase 17 like family member 19 USP17L19 ubiquitin specific peptidase 17-like family member 19 Yes No Ensembl:ENSG00000248920, HGNC:HGNC:44447, NCBI Gene:100287404 No chr4 9255104 9256696 9253378 9254970 +PA165586023 377630 HGNC:34434 ENSG00000223443 ubiquitin specific peptidase 17 like family member 2 USP17L2 deubiquitinating enzyme 3, ubiquitin specific peptidase 17-like family member 2 DUB3 Yes No Ensembl:ENSG00000223443, GeneCard:USP17L2, HGNC:HGNC:34434, NCBI Gene:377630, OMIM:610186, RefSeq DNA:NT_077531, RefSeq Protein:NP_958804, RefSeq RNA:NM_201402, UniProtKB:Q6R6M4 No chr8 11994677 11996269 12137168 12138760 +PA166049136 100287441 HGNC:44448 ENSG00000250745 ubiquitin specific peptidase 17 like family member 20 USP17L20 ubiquitin specific peptidase 17-like family member 20 Yes No Ensembl:ENSG00000250745, HGNC:HGNC:44448, NCBI Gene:100287441 No chr4 9259850 9261442 9258124 9259716 +PA166049137 100287478 HGNC:44449 ENSG00000249811 ubiquitin specific peptidase 17 like family member 21 USP17L21 ubiquitin specific peptidase 17-like family member 21 Yes No Ensembl:ENSG00000249811, HGNC:HGNC:44449, NCBI Gene:100287478 No chr4 9264598 9266190 9262872 9264464 +PA166049138 100287513 HGNC:44450 ENSG00000248933 ubiquitin specific peptidase 17 like family member 22 USP17L22 ubiquitin specific peptidase 17-like family member 22 Yes No Ensembl:ENSG00000248933, HGNC:HGNC:44450, NCBI Gene:100287513 No chr4 9269345 9270937 9267619 9269211 +PA166049139 101241878 HGNC:44451 ENSG00000250913 ubiquitin specific peptidase 17 like family member 23 USP17L23 ubiquitin specific peptidase 17-like family member 23 Yes No Ensembl:ENSG00000250913, HGNC:HGNC:44451, NCBI Gene:101241878 No chr4 +PA166049141 728369 HGNC:44453 ENSG00000232264 ubiquitin specific peptidase 17 like family member 24 USP17L24 ubiquitin specific peptidase 17-like family member 24 Yes No Ensembl:ENSG00000232264, HGNC:HGNC:44453, NCBI Gene:728369 No chr4 9326891 9328483 9325165 9326757 +PA166049140 728373 HGNC:44452 ENSG00000230430 ubiquitin specific peptidase 17 like family member 25 USP17L25 ubiquitin specific peptidase 17-like family member 25 Yes No Ensembl:ENSG00000230430, HGNC:HGNC:44452, NCBI Gene:728373 No chr4 9331637 9333229 9329911 9331503 +PA166049142 728379 HGNC:44454 ENSG00000229579 ubiquitin specific peptidase 17 like family member 26 USP17L26 ubiquitin specific peptidase 17-like family member 26 Yes No Ensembl:ENSG00000229579, HGNC:HGNC:44454, NCBI Gene:728379 No chr4 9336384 9337976 9334658 9336250 +PA166049143 728393 HGNC:44455 ENSG00000235780 ubiquitin specific peptidase 17 like family member 27 USP17L27 ubiquitin specific peptidase 17-like family member 27 Yes No Ensembl:ENSG00000235780, HGNC:HGNC:44455, NCBI Gene:728393 No chr4 9345874 9347466 9344148 9345740 +PA166049144 728400 HGNC:44456 ENSG00000231051 ubiquitin specific peptidase 17 like family member 28 USP17L28 ubiquitin specific peptidase 17-like family member 28 Yes No Ensembl:ENSG00000231051, HGNC:HGNC:44456, NCBI Gene:728400 No chr4 9350619 9352211 9348893 9350485 +PA166049145 728405 HGNC:44457 ENSG00000231637 ubiquitin specific peptidase 17 like family member 29 USP17L29 ubiquitin specific peptidase 17-like family member 29 Yes No Ensembl:ENSG00000231637, HGNC:HGNC:44457, NCBI Gene:728405 No chr4 9355364 9356956 9353638 9355230 +PA166123753 645836 HGNC:37175 ENSG00000225327 ubiquitin specific peptidase 17 like family member 3 USP17L3 ubiquitin specific peptidase 17-like family member 3 USP17B, USP17F Yes No Ensembl:ENSG00000225327, HGNC:HGNC:37175, NCBI Gene:645836 No chr8 +PA166049146 728419 HGNC:44458 ENSG00000228856 ubiquitin specific peptidase 17 like family member 30 USP17L30 ubiquitin specific peptidase 17-like family member 30 Yes No Ensembl:ENSG00000228856, HGNC:HGNC:44458, NCBI Gene:728419 No chr4 9364855 9366447 9363129 9364721 +PA166123754 645402 HGNC:37176 ENSG00000236125 ubiquitin specific peptidase 17 like family member 4 USP17L4 ubiquitin specific peptidase 17-like family member 4 Yes No Ensembl:ENSG00000236125, HGNC:HGNC:37176, NCBI Gene:645402 No chr8 +PA165664776 728386 HGNC:37177 ENSG00000227140 ubiquitin specific peptidase 17 like family member 5 USP17L5 ubiquitin specific peptidase 17-like family member 5 Yes No Ensembl:ENSG00000227140, GeneCard:USP17L5, HGNC:HGNC:37177, NCBI Gene:728386, RefSeq DNA:NT_006316, RefSeq Protein:NP_001229258, RefSeq Protein:XP_001130437, RefSeq RNA:NM_001242329, RefSeq RNA:XM_001130437, UniProtKB:A8MUK1 No chr4 9341129 9342721 9339403 9340995 +PA166049022 392197 HGNC:37180 ENSG00000226430 ubiquitin specific peptidase 17 like family member 7 USP17L7 ubiquitin specific peptidase 17-like family member 7 Yes No Ensembl:ENSG00000226430, HGNC:HGNC:37180, NCBI Gene:392197 No chr8 11989926 11991518 12132417 12134009 +PA166049023 392188 HGNC:37181 ENSG00000237038 ubiquitin specific peptidase 17 like family member 8 USP17L8 ubiquitin specific peptidase 17-like family member 8 Yes No Ensembl:ENSG00000237038, HGNC:HGNC:37181, NCBI Gene:392188 No chr8 7829183 7830775 7971661 7973253 +PA37241 391627 HGNC:12615 ENSG00000251694 ubiquitin specific peptidase 17-like family member 9, pseudogene USP17L9P RS447 Yes No Ensembl:ENSG00000251694, GenAtlas:USP17, GeneCard:USP17, HGNC:HGNC:12615, ModBase:Q0WX57, NCBI Gene:391627, OMIM:607011, RefSeq DNA:NT_006316, RefSeq Protein:NP_001099132, RefSeq RNA:NM_001105662 No chr4 9360108 9361700 9358382 9359974 +PA37242 11274 HGNC:12616 ENSG00000184979 ubiquitin specific peptidase 18 USP18 Ubl carboxyl-terminal hydrolase 18 Yes No Comparative Toxicogenomics Database:11274, Ensembl:ENSG00000184979, GenAtlas:USP18, GeneCard:USP18, HGNC:HGNC:12616, HumanCyc Gene:HS08572, ModBase:Q9UMW8, NCBI Gene:11274, OMIM:607057, RefSeq DNA:NT_011519, RefSeq Protein:NP_059110, RefSeq RNA:NM_017414, UCSC Genome Browser:NM_017414, UniProtKB:Q53Y90, UniProtKB:Q9UMW8 No chr22 18632758 18660164 18149959 18177397 +PA37243 10869 HGNC:12617 ENSG00000172046 ubiquitin specific peptidase 19 USP19 KIAA0891, ZMYND9 Yes No Comparative Toxicogenomics Database:10869, Ensembl:ENSG00000172046, GenAtlas:USP19, GeneCard:USP19, HGNC:HGNC:12617, HumanCyc Gene:HS10440, ModBase:O94966, NCBI Gene:10869, RefSeq DNA:NT_022517, RefSeq Protein:NP_001186089, RefSeq Protein:NP_001186090, RefSeq Protein:NP_001186091, RefSeq Protein:NP_006668, RefSeq RNA:NM_001199160, RefSeq RNA:NM_001199161, RefSeq RNA:NM_001199162, RefSeq RNA:NM_006677, UniProtKB:O94966 No chr3 49145479 49158371 49108046 49120938 +PA37244 9099 HGNC:12618 ENSG00000036672 ubiquitin specific peptidase 2 USP2 UBP41 Yes No Comparative Toxicogenomics Database:9099, Ensembl:ENSG00000036672, GenAtlas:USP2, GeneCard:USP2, HGNC:HGNC:12618, HumanCyc Gene:HS00519, ModBase:O75604, NCBI Gene:9099, OMIM:604725, RefSeq DNA:NT_033899, RefSeq Protein:NP_004196, RefSeq Protein:NP_741994, RefSeq RNA:NM_004205, RefSeq RNA:NM_171997, UCSC Genome Browser:NM_004205, UniProtKB:O75604 No chr11 119225925 119252436 119355215 119381726 +PA37245 10868 HGNC:12619 ENSG00000136878 ubiquitin specific peptidase 20 USP20 KIAA1003 Yes No Comparative Toxicogenomics Database:10868, Ensembl:ENSG00000136878, GenAtlas:USP20, GeneCard:USP20, HGNC:HGNC:12619, HumanCyc Gene:HS06238, ModBase:Q9Y2K6, NCBI Gene:10868, RefSeq DNA:NT_008470, RefSeq Protein:NP_001008563, RefSeq Protein:NP_001103773, RefSeq Protein:NP_006667, RefSeq RNA:NM_001008563, RefSeq RNA:NM_001110303, RefSeq RNA:NM_006676, UCSC Genome Browser:NM_006676, UniProtKB:Q9Y2K6 No chr9 132597696 132644121 129835417 129881838 +PA37246 27005 HGNC:12620 ENSG00000143258 ubiquitin specific peptidase 21 USP21 USP16, USP23 Yes No Ensembl:ENSG00000143258, GenAtlas:USP21, GeneCard:USP21, HGNC:HGNC:12620, HumanCyc Gene:HS07017, ModBase:Q9UK80, NCBI Gene:27005, OMIM:604729, RefSeq DNA:NT_004487, RefSeq Protein:NP_001014443, RefSeq Protein:NP_036607, RefSeq RNA:NM_001014443, RefSeq RNA:NM_012475, UCSC Genome Browser:NM_012475, UniProtKB:Q9UK80 No chr1 161129248 161135516 161159458 161165726 +PA37247 23326 HGNC:12621 ENSG00000124422 ubiquitin specific peptidase 22 USP22 KIAA1063, USP3L Yes No Comparative Toxicogenomics Database:23326, Ensembl:ENSG00000124422, GenAtlas:USP22, GeneCard:USP22, HGNC:HGNC:12621, HumanCyc Gene:HS04768, ModBase:Q9UPT9, NCBI Gene:23326, OMIM:612116, RefSeq DNA:NT_010718, RefSeq Protein:NP_056091, RefSeq RNA:NM_015276, UniProtKB:Q9UPT9 No chr17 20902906 20946722 20999593 21043409 +PA37248 23358 HGNC:12623 ENSG00000162402 ubiquitin specific peptidase 24 USP24 KIAA1057 Yes Yes Ensembl:ENSG00000162402, GenAtlas:USP24, GeneCard:USP24, HGNC:HGNC:12623, HumanCyc Gene:HS08669, NCBI Gene:23358, OMIM:610569, RefSeq DNA:NT_032977, RefSeq Protein:NP_056121, RefSeq RNA:NM_015306, UniProtKB:Q9UPU5 No chr1 55532032 55681039 55066359 55215374 +PA37249 29761 HGNC:12624 ENSG00000155313 ubiquitin specific peptidase 25 USP25 USP21 Yes No Ensembl:ENSG00000155313, GenAtlas:USP25, GeneCard:USP25, HGNC:HGNC:12624, HumanCyc Gene:HS08041, ModBase:Q9UHP3, NCBI Gene:29761, OMIM:604736, RefSeq DNA:NT_011512, RefSeq Protein:NP_037528, RefSeq RNA:NM_013396, UCSC Genome Browser:NM_013396, UniProtKB:Q9UHP3 No chr21 17102327 17252377 15729947 15880072 +PA37782 83844 HGNC:13485 ENSG00000134588 ubiquitin specific peptidase 26 USP26 Yes No Comparative Toxicogenomics Database:83844, Ensembl:ENSG00000134588, GenAtlas:USP26, GeneCard:USP26, HGNC:HGNC:13485, HumanCyc Gene:HS05890, ModBase:Q9BXU7, NCBI Gene:83844, OMIM:300309, OMIM:305700, RefSeq DNA:NG_013268, RefSeq DNA:NT_011786, RefSeq Protein:NP_114113, RefSeq RNA:NM_031907, UCSC Genome Browser:NM_031907, UniProtKB:Q9BXU7 No chrX 132158659 132231135 133024631 133083768 +PA134993614 389856 HGNC:13486 ENSG00000273820 ubiquitin specific peptidase 27 X-linked USP27X ubiquitin specific peptidase 27, X-linked USP27 Yes No Ensembl:ENSG00000273820, GeneCard:USP27X, HGNC:HGNC:13486, NCBI Gene:389856, RefSeq DNA:NT_086939, RefSeq Protein:NP_001138545, RefSeq RNA:NM_001145073, UniProtKB:A6NNY8 No chrX 49644470 49647169 49879867 49882565 +PA37250 57646 HGNC:12625 ENSG00000048028 ubiquitin specific peptidase 28 USP28 KIAA1515 Yes No Comparative Toxicogenomics Database:57646, Ensembl:ENSG00000048028, GenAtlas:USP28, GeneCard:USP28, HGNC:HGNC:12625, HumanCyc Gene:HS00598, ModBase:Q96RU2, NCBI Gene:57646, OMIM:610748, RefSeq DNA:NT_033899, RefSeq Protein:NP_065937, RefSeq RNA:NM_020886, UCSC Genome Browser:NM_020886, UniProtKB:Q96RU2 No chr11 113668597 113746292 113797875 113875580 +PA38349 57663 HGNC:18563 ENSG00000131864 ubiquitin specific peptidase 29 USP29 Yes No Ensembl:ENSG00000131864, GenAtlas:USP29, GeneCard:USP29, HGNC:HGNC:18563, HumanCyc Gene:HS05579, ModBase:Q9HBJ7, NCBI Gene:57663, OMIM:609546, RefSeq DNA:NT_011109, RefSeq Protein:NP_065954, RefSeq RNA:NM_020903, UCSC Genome Browser:NM_020903, UniProtKB:Q9HBJ7 No chr19 57631509 57643294 57120141 57131926 +PA37251 9960 HGNC:12626 ENSG00000140455 ubiquitin specific peptidase 3 USP3 Yes No Comparative Toxicogenomics Database:9960, Ensembl:ENSG00000140455, GenAtlas:USP3, GeneCard:USP3, HGNC:HGNC:12626, HumanCyc Gene:HS06718, ModBase:Q9Y6I4, NCBI Gene:9960, OMIM:604728, RefSeq DNA:NT_010194, RefSeq Protein:NP_006528, RefSeq RNA:NM_006537, UCSC Genome Browser:NM_006537, UniProtKB:Q9Y6I4 No chr15 63796710 63886839 63504511 63594640 +PA134971149 84749 HGNC:20065 ENSG00000135093 ubiquitin specific peptidase 30 USP30 FLJ40511, MGC10702 Yes No Ensembl:ENSG00000135093, GeneCard:USP30, HGNC:HGNC:20065, HumanCyc Gene:HS05951, ModBase:Q70CQ3, NCBI Gene:84749, OMIM:612492, RefSeq DNA:NT_009775, RefSeq Protein:NP_116052, RefSeq RNA:NM_032663, UniProtKB:Q70CQ3 No chr12 109490380 109525831 109023089 109088026 +PA164742780 57478 HGNC:20060 ENSG00000103404 ubiquitin specific peptidase 31 USP31 KIAA1203 Yes No Ensembl:ENSG00000103404, GeneCard:USP31, HGNC:HGNC:20060, ModBase:Q70CQ4, NCBI Gene:57478, RefSeq DNA:NT_010393, RefSeq Protein:NP_065769, RefSeq RNA:NM_020718, UniProtKB:Q70CQ4 No chr16 23072727 23160591 23061407 23149301 +PA134982542 84669 HGNC:19143 ENSG00000170832 ubiquitin specific peptidase 32 USP32 NY-REN-60, USP10 Yes No Comparative Toxicogenomics Database:84669, Ensembl:ENSG00000170832, GeneCard:USP32, HGNC:HGNC:19143, HumanCyc Gene:HS10189, ModBase:Q8NFA0, NCBI Gene:84669, OMIM:607740, RefSeq DNA:NT_010783, RefSeq Protein:NP_115971, RefSeq RNA:NM_032582, UniProtKB:Q8NFA0 No chr17 58254551 58469586 60177231 60422470 +PA134955343 23032 HGNC:20059 ENSG00000077254 ubiquitin specific peptidase 33 USP33 KIAA1097, VDU1 Yes No Comparative Toxicogenomics Database:23032, Ensembl:ENSG00000077254, GeneCard:USP33, HGNC:HGNC:20059, HumanCyc Gene:HS01237, ModBase:Q8TEY7, NCBI Gene:23032, RefSeq DNA:NT_032977, RefSeq Protein:NP_055832, RefSeq Protein:NP_963918, RefSeq Protein:NP_963920, RefSeq RNA:NM_015017, RefSeq RNA:NM_201624, RefSeq RNA:NM_201626, UniProtKB:Q8TEY7 No chr1 78161672 78225564 77695987 77759879 +PA134897042 9736 HGNC:20066 ENSG00000115464 ubiquitin specific peptidase 34 USP34 KIAA0570, KIAA0729 Yes No Comparative Toxicogenomics Database:9736, Ensembl:ENSG00000115464, GeneCard:USP34, HGNC:HGNC:20066, ModBase:Q8N3T9, NCBI Gene:9736, RefSeq DNA:NT_022184, RefSeq Protein:NP_055524, RefSeq RNA:NM_014709, UniProtKB:Q70CQ2 No chr2 61414590 61697868 61187455 61470714 +PA134883706 57558 HGNC:20061 ENSG00000118369 ubiquitin specific peptidase 35 USP35 KIAA1372 Yes No Ensembl:ENSG00000118369, GeneCard:USP35, HGNC:HGNC:20061, ModBase:Q9P2H5, NCBI Gene:57558, RefSeq DNA:NT_167190, RefSeq Protein:NP_065849, RefSeq RNA:NM_020798, UniProtKB:B3KPE1, UniProtKB:Q9P2H5 No chr11 77899858 77925757 78188812 78233651 +PA134949090 57602 HGNC:20062 ENSG00000055483 ubiquitin specific peptidase 36 USP36 FLJ12851, KIAA1453 Yes Yes Comparative Toxicogenomics Database:57602, Ensembl:ENSG00000055483, GeneCard:USP36, HGNC:HGNC:20062, HumanCyc Gene:HS00684, NCBI Gene:57602, OMIM:612543, RefSeq DNA:NT_010783, RefSeq Protein:NP_079366, RefSeq RNA:NM_025090, UniProtKB:Q9P275 No chr17 76783463 76836980 78787381 78840898 +PA134928706 57695 HGNC:20063 ENSG00000135913 ubiquitin specific peptidase 37 USP37 KIAA1594 Yes No Ensembl:ENSG00000135913, GeneCard:USP37, HGNC:HGNC:20063, ModBase:Q86T82, NCBI Gene:57695, RefSeq DNA:NT_005403, RefSeq Protein:NP_065986, RefSeq RNA:NM_020935, UniProtKB:Q86T82 No chr2 219314974 219433084 218450251 218568393 +PA134880611 84640 HGNC:20067 ENSG00000170185 ubiquitin specific peptidase 38 USP38 HP43.8KD, KIAA1891 Yes No Ensembl:ENSG00000170185, GeneCard:USP38, HGNC:HGNC:20067, HumanCyc Gene:HS10080, ModBase:Q8NB14, NCBI Gene:84640, RefSeq DNA:NT_016354, RefSeq Protein:NP_115946, RefSeq RNA:NM_032557, UniProtKB:Q3ZCV1, UniProtKB:Q8NB14 No chr4 144106070 144143141 143184917 143223874 +PA134905136 10713 HGNC:20071 ENSG00000168883 ubiquitin specific peptidase 39 USP39 small nuclear ribonucleoprotein 65kDa (U4/U6.U5), snRNP assembly defective 1 homolog (S. cerevisiae), snRNP assembly defective 1 homolog (S.cerevisiae) CGI-21, SAD1, SNRNP65 Yes No Comparative Toxicogenomics Database:10713, Ensembl:ENSG00000168883, GeneCard:USP39, HGNC:HGNC:20071, HumanCyc Gene:HS09843, ModBase:Q53GS9, NCBI Gene:10713, OMIM:611594, RefSeq DNA:NT_022184, RefSeq Protein:NP_006581, RefSeq RNA:NM_006590, UniProtKB:Q53GS9 No chr2 85829965 85876407 85602842 85649284 +PA37252 7375 HGNC:12627 ENSG00000114316 ubiquitin specific peptidase 4 USP4 ubiquitin specific peptidase 4 (proto-oncogene) UNP, Unph Yes No Comparative Toxicogenomics Database:7375, Ensembl:ENSG00000114316, GenAtlas:USP4, GeneCard:USP4, HGNC:HGNC:12627, HumanCyc Gene:HS03755, ModBase:Q13107, NCBI Gene:7375, OMIM:603486, RefSeq DNA:NT_022517, RefSeq Protein:NP_003354, RefSeq Protein:NP_955475, RefSeq RNA:NM_003363, RefSeq RNA:NM_199443, UCSC Genome Browser:NM_003363, UniProtKB:Q08AK7, UniProtKB:Q13107 No chr3 49314577 49377536 49277144 49340103 +PA134909324 55230 HGNC:20069 ENSG00000085982 ubiquitin specific peptidase 40 USP40 FLJ10785 Yes No Comparative Toxicogenomics Database:55230, Ensembl:ENSG00000085982, GeneCard:USP40, HGNC:HGNC:20069, ModBase:Q9NVE5, NCBI Gene:55230, OMIM:610570, RefSeq DNA:NT_005120, RefSeq Protein:NP_060688, RefSeq RNA:NM_018218, UniProtKB:Q9NVE5 No chr2 234384165 234475433 233475519 233566789 +PA134876613 373856 HGNC:20070 ENSG00000161133 ubiquitin specific peptidase 41 USP41 Yes No Ensembl:ENSG00000161133, GeneCard:USP41, HGNC:HGNC:20070, NCBI Gene:373856, RefSeq DNA:NT_011520, RefSeq Protein:XP_001718697, RefSeq Protein:XP_036729, RefSeq Protein:XP_943081, RefSeq RNA:XM_001718645, RefSeq RNA:XM_036729, RefSeq RNA:XM_937988 No chr22 20704868 20731544 20363621 20390758 +PA134902515 84132 HGNC:20068 ENSG00000106346 ubiquitin specific peptidase 42 USP42 FLJ12697 Yes No Comparative Toxicogenomics Database:84132, Ensembl:ENSG00000106346, GeneCard:USP42, HGNC:HGNC:20068, NCBI Gene:84132, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_115548, RefSeq RNA:NM_032172, UniProtKB:A2RUE3 No chr7 6144550 6201195 6078743 6161564 +PA134865304 124739 HGNC:20072 ENSG00000154914 ubiquitin specific peptidase 43 USP43 FLJ30626 Yes No Ensembl:ENSG00000154914, GeneCard:USP43, HGNC:HGNC:20072, HumanCyc Gene:HS08015, ModBase:Q70EL4, NCBI Gene:124739, RefSeq DNA:NT_010718, RefSeq Protein:NP_694942, RefSeq RNA:NM_153210, UniProtKB:Q70EL4 No chr17 9548015 9633004 9643493 9729687 +PA134931457 84101 HGNC:20064 ENSG00000136014 ubiquitin specific peptidase 44 USP44 FLJ14528 Yes No Ensembl:ENSG00000136014, GeneCard:USP44, HGNC:HGNC:20064, HumanCyc Gene:HS06103, ModBase:Q9H0E7, NCBI Gene:84101, OMIM:610993, RefSeq DNA:NT_029419, RefSeq Protein:NP_001035862, RefSeq Protein:NP_115523, RefSeq RNA:NM_001042403, RefSeq RNA:NM_032147, UniProtKB:Q9H0E7 No chr12 95910336 95945278 95516560 95551529 +PA134889604 85015 HGNC:20080 ENSG00000123552 ubiquitin specific peptidase 45 USP45 MGC14793 Yes No Ensembl:ENSG00000123552, GeneCard:USP45, HGNC:HGNC:20080, HumanCyc Gene:HS04668, NCBI Gene:85015, RefSeq DNA:NT_025741, RefSeq Protein:NP_001073950, RefSeq RNA:NM_001080481, UniProtKB:Q70EL2 No chr6 99880182 99963565 99432306 99515770 +PA134922048 64854 HGNC:20075 ENSG00000109189 ubiquitin specific peptidase 46 USP46 FLJ12552 Yes No Comparative Toxicogenomics Database:64854, Ensembl:ENSG00000109189, GeneCard:USP46, HGNC:HGNC:20075, HumanCyc Gene:HS03209, ModBase:P62068, NCBI Gene:64854, OMIM:612849, RefSeq DNA:NT_022853, RefSeq Protein:NP_001127695, RefSeq Protein:NP_073743, RefSeq RNA:NM_001134223, RefSeq RNA:NM_022832, UniProtKB:P62068 No chr4 53457126 53525502 52590960 52659335 +PA134880952 55031 HGNC:20076 ENSG00000170242 ubiquitin specific peptidase 47 USP47 Yes No Comparative Toxicogenomics Database:55031, Ensembl:ENSG00000170242, GeneCard:USP47, HGNC:HGNC:20076, HumanCyc Gene:HS10086, ModBase:Q96K76, NCBI Gene:55031, RefSeq DNA:NT_009237, RefSeq Protein:NP_060414, RefSeq RNA:NM_017944, UniProtKB:Q96K76 No chr11 11862970 11980872 11841423 11959325 +PA134947522 84196 HGNC:18533 ENSG00000090686 ubiquitin specific peptidase 48 USP48 FLJ11328, FLJ20103, FLJ23054, FLJ23277, MGC14879, USP31 Yes No Ensembl:ENSG00000090686, GeneCard:USP48, HGNC:HGNC:18533, HumanCyc Gene:HS01704, ModBase:Q9H5N3, NCBI Gene:84196, RefSeq DNA:NT_004610, RefSeq Protein:NP_001027902, RefSeq Protein:NP_115612, RefSeq RNA:NM_001032730, RefSeq RNA:NM_032236, UniProtKB:Q86UV5 No chr1 22004791 22109688 21678298 21783620 +PA134954570 25862 HGNC:20078 ENSG00000164663 ubiquitin specific peptidase 49 USP49 MGC20741 Yes No Comparative Toxicogenomics Database:25862, Ensembl:ENSG00000164663, GeneCard:USP49, HGNC:HGNC:20078, HumanCyc Gene:HS09114, ModBase:Q70CQ1, NCBI Gene:25862, RefSeq DNA:NT_007592, RefSeq Protein:NP_061031, RefSeq RNA:NM_018561, UniProtKB:Q70CQ1 No chr6 41757634 41863099 41789896 41895361 +PA37253 8078 HGNC:12628 ENSG00000111667 ubiquitin specific peptidase 5 USP5 isopeptidase T, ubiquitin specific peptidase 5 (isopeptidase T) IsoT Yes Yes Comparative Toxicogenomics Database:8078, Ensembl:ENSG00000111667, GenAtlas:USP5, GeneCard:USP5, HGNC:HGNC:12628, HumanCyc Gene:HS03440, ModBase:P45974, NCBI Gene:8078, OMIM:601447, RefSeq DNA:NT_009759, RefSeq Protein:NP_001092006, RefSeq Protein:NP_003472, RefSeq RNA:NM_001098536, RefSeq RNA:NM_003481, UCSC Genome Browser:NM_003481, UniProtKB:P45974 No chr12 6961285 6975796 6852118 6866632 +PA134916583 373509 HGNC:20079 ENSG00000170236 ubiquitin specific peptidase 50 USP50 Yes No Ensembl:ENSG00000170236, GeneCard:USP50, HGNC:HGNC:20079, ModBase:Q70EL3, NCBI Gene:373509, RefSeq DNA:NT_010194, RefSeq Protein:NP_987090, RefSeq RNA:NM_203494 No chr15 50792759 50838902 50500562 50546705 +PA134888611 158880 HGNC:23086 ENSG00000247746 ubiquitin specific peptidase 51 USP51 Yes No Ensembl:ENSG00000247746, GeneCard:USP51, HGNC:HGNC:23086, ModBase:Q70EK9, NCBI Gene:158880, RefSeq DNA:NG_021371, RefSeq DNA:NT_011630, RefSeq Protein:NP_958443, RefSeq RNA:NM_201286, UniProtKB:Q70EK9 No chrX 55511049 55516301 55484524 55489875 +PA134940368 54532 HGNC:29255 ENSG00000145390 ubiquitin specific peptidase 53 USP53 KIAA1350 Yes No Comparative Toxicogenomics Database:54532, Ensembl:ENSG00000145390, GeneCard:USP53, HGNC:HGNC:29255, ModBase:Q70EK8, NCBI Gene:54532, RefSeq DNA:NT_016354, RefSeq Protein:NP_061923, RefSeq RNA:NM_019050, UniProtKB:Q70EK8, UniProtKB:Q9H9I0 No chr4 120133775 120216673 119212583 119295518 +PA134959960 159195 HGNC:23513 ENSG00000166348 ubiquitin specific peptidase 54 USP54 C10orf29, FLJ37318, bA137L10.3, bA137L10.4 Yes No Comparative Toxicogenomics Database:159195, Ensembl:ENSG00000166348, GeneCard:USP54, HGNC:HGNC:23513, HumanCyc Gene:HS15432, ModBase:Q8N1X2, NCBI Gene:159195, RefSeq DNA:NT_030059, RefSeq Protein:NP_689799, RefSeq RNA:NM_152586, UniProtKB:Q70EL1 No chr10 75257296 75335433 73497538 73626844 +PA37254 9098 HGNC:12629 ENSG00000129204 ubiquitin specific peptidase 6 USP6 TBC1D3 and USP32 fusion, Tre-2 oncogene, ubiquitin carboxyl-terminal hydrolase 6, ubiquitin specific peptidase 6 (Tre-2 oncogene) HRP1, TRE17, TRESMCR, Tre-2, Tre2 Yes No Ensembl:ENSG00000129204, GenAtlas:USP6, GeneCard:USP6, HGNC:HGNC:12629, HumanCyc Gene:HS05254, ModBase:P35125, NCBI Gene:9098, OMIM:604334, RefSeq DNA:NT_010718, RefSeq Protein:NP_004496, RefSeq RNA:NM_004505, UCSC Genome Browser:NM_004505, UniProtKB:P35125 No chr17 5031687 5078327 5116438 5175032 +PA134955568 9712 HGNC:16858 ENSG00000148429 USP6 N-terminal like USP6NL related to the N terminus of tre KIAA0019, RN-tre, RNTRE, TRE2NL, USP6NL-IT1 Yes No Comparative Toxicogenomics Database:9712, Ensembl:ENSG00000148429, GeneCard:USP6NL, HGNC:HGNC:16858, HumanCyc Gene:HS07528, ModBase:Q92738, NCBI Gene:9712, OMIM:605405, RefSeq DNA:NT_008705, RefSeq Protein:NP_001073960, RefSeq Protein:NP_055503, RefSeq RNA:NM_001080491, RefSeq RNA:NM_014688, UniProtKB:Q5VV10, UniProtKB:Q92738 No chr10 11502509 11653679 11460510 11611789 +PA37255 7874 HGNC:12630 ENSG00000187555 ubiquitin specific peptidase 7 USP7 ubiquitin specific peptidase 7 (herpes virus-associated) HAUSP Yes No Ensembl:ENSG00000187555, GenAtlas:USP7, GeneCard:USP7, HGNC:HGNC:12630, HumanCyc Gene:HS10354, NCBI Gene:7874, OMIM:602519, RefSeq DNA:NT_010393, RefSeq Protein:NP_003461, RefSeq RNA:NM_003470, UCSC Genome Browser:NM_003470, UniProtKB:Q6U8A4, UniProtKB:Q93009 No chr16 8985951 9057341 8892094 8963912 +PA37256 9101 HGNC:12631 ENSG00000138592 ubiquitin specific peptidase 8 USP8 Ubiquitin carboxyl-terminal hydrolase 8, Ubiquitin isopeptidase Y HumORF8, KIAA0055, SPG59, UBPY Yes No Comparative Toxicogenomics Database:9101, Ensembl:ENSG00000138592, GenAtlas:USP8, GeneCard:USP8, HGNC:HGNC:12631, HumanCyc Gene:HS06513, ModBase:P40818, NCBI Gene:9101, OMIM:603158, RefSeq DNA:NT_010194, RefSeq Protein:NP_001122082, RefSeq Protein:NP_001122083, RefSeq Protein:NP_005145, RefSeq RNA:NM_001128610, RefSeq RNA:NM_001128611, RefSeq RNA:NM_005154, UCSC Genome Browser:NM_005154, UniProtKB:B3KRK3, UniProtKB:P40818, UniProtKB:Q05DF5 No chr15 50716579 50793280 50424359 50501083 +PA37257 8239 HGNC:12632 ENSG00000124486 ubiquitin specific peptidase 9 X-linked USP9X """fat facets-like, X-linked"", ""ubiquitin specific peptidase 9, X-linked""" DFFRX, FAF, FAF-X, MRX99 Yes No Ensembl:ENSG00000124486, GenAtlas:USP9X, GeneCard:USP9X, HGNC:HGNC:12632, HumanCyc Gene:HS04777, ModBase:Q93008, NCBI Gene:8239, OMIM:300072, RefSeq DNA:NG_012547, RefSeq DNA:NT_079573, RefSeq Protein:NP_001034679, RefSeq Protein:NP_001034680, RefSeq RNA:NM_001039590, RefSeq RNA:NM_001039591, UCSC Genome Browser:NM_004652, UniProtKB:Q6P468, UniProtKB:Q86X58, UniProtKB:Q93008 No chrX 40944727 41095832 41085420 41236579 +PA37258 8287 HGNC:12633 ENSG00000114374 ubiquitin specific peptidase 9 Y-linked USP9Y """azoospermia factor A"", ""fat facets-like homolog (Drosophila)"", ""ubiquitin specific peptidase 9, Y-linked""" AZFA, DFFRY, FAF-Y Yes No Comparative Toxicogenomics Database:8287, Ensembl:ENSG00000114374, GenAtlas:USP9Y, GeneCard:USP9Y, HGNC:HGNC:12633, HumanCyc Gene:HS03762, ModBase:O00507, NCBI Gene:8287, OMIM:400005, OMIM:415000, RefSeq DNA:NG_008311, RefSeq DNA:NT_011875, RefSeq Protein:NP_004645, RefSeq RNA:NM_004654, UCSC Genome Browser:NM_004654, UniProtKB:O00507 No chrY 14813160 14972768 12701231 12860844 +PA134940308 387362 HGNC:31741 ENSG00000250951 ubiquitin specific peptidase 9, Y-linked pseudogene 1 USP9YP1 Yes No Ensembl:ENSG00000250951, GeneCard:USP9YP1, HGNC:HGNC:31741, NCBI Gene:387362, RefSeq DNA:NT_011875 No chrY 20702780 20706118 18540894 18544232 +PA165791870 100874382 HGNC:38720 ENSG00000227871 ubiquitin specific peptidase 9, Y-linked pseudogene 12 USP9YP12 Yes No Ensembl:ENSG00000227871, HGNC:HGNC:38720, NCBI Gene:100874382 No chrY 26093112 26093270 23946965 23947123 +PA165791871 100861434 HGNC:38721 ENSG00000224571 ubiquitin specific peptidase 9, Y-linked pseudogene 13 USP9YP13 Yes No Ensembl:ENSG00000224571, HGNC:HGNC:38721, NCBI Gene:100861434 No chrY 26066052 26066270 23919905 23920123 +PA165791872 HGNC:38748 ubiquitin specific peptidase 9, Y-linked pseudogene 14 USP9YP14 Yes No HGNC:HGNC:38748 No +PA165791873 HGNC:38751 ubiquitin specific peptidase 9, Y-linked pseudogene 15 USP9YP15 Yes No HGNC:HGNC:38751 No +PA165791874 HGNC:38752 ubiquitin specific peptidase 9, Y-linked pseudogene 16 USP9YP16 Yes No HGNC:HGNC:38752 No +PA165791875 HGNC:38753 ubiquitin specific peptidase 9, Y-linked pseudogene 17 USP9YP17 Yes No HGNC:HGNC:38753 No +PA165791886 HGNC:38754 ubiquitin specific peptidase 9, Y-linked pseudogene 18 USP9YP18 Yes No HGNC:HGNC:38754 No +PA165791887 100500797 HGNC:38755 ENSG00000225326 ubiquitin specific peptidase 9, Y-linked pseudogene 19 USP9YP19 Yes No Ensembl:ENSG00000225326, HGNC:HGNC:38755, NCBI Gene:100500797 No chrY 27895007 27896135 25748860 25749988 +PA134946374 387363 HGNC:31742 ENSG00000249501 ubiquitin specific peptidase 9, Y-linked pseudogene 2 USP9YP2 Yes No Ensembl:ENSG00000249501, GeneCard:USP9YP2, HGNC:HGNC:31742, NCBI Gene:387363, RefSeq DNA:NT_011875 No chrY 20938061 20941399 18776175 18779513 +PA165791888 HGNC:38767 ubiquitin specific peptidase 9, Y-linked pseudogene 20 USP9YP20 Yes No HGNC:HGNC:38767 No +PA165791889 HGNC:38757 ubiquitin specific peptidase 9, Y-linked pseudogene 21 USP9YP21 Yes No HGNC:HGNC:38757 No +PA165791890 100874383 HGNC:38758 ENSG00000224408 ubiquitin specific peptidase 9, Y-linked pseudogene 22 USP9YP22 Yes No Ensembl:ENSG00000224408, HGNC:HGNC:38758, NCBI Gene:100874383 No chrY 9023208 9023421 9185599 9185812 +PA165791891 100500798 HGNC:38759 ENSG00000223555 ubiquitin specific peptidase 9, Y-linked pseudogene 23 USP9YP23 Yes No Ensembl:ENSG00000223555, HGNC:HGNC:38759, NCBI Gene:100500798 No chrY 19894111 19896696 17782131 17784916 +PA165791902 HGNC:38760 ubiquitin specific peptidase 9, Y-linked pseudogene 24 USP9YP24 Yes No HGNC:HGNC:38760 No +PA165791903 HGNC:38761 ubiquitin specific peptidase 9, Y-linked pseudogene 25 USP9YP25 Yes No HGNC:HGNC:38761 No +PA165791904 HGNC:38762 ubiquitin specific peptidase 9, Y-linked pseudogene 26 USP9YP26 Yes No HGNC:HGNC:38762 No +PA165791905 HGNC:38763 ubiquitin specific peptidase 9, Y-linked pseudogene 27 USP9YP27 Yes No HGNC:HGNC:38763 No +PA165791906 HGNC:38764 ubiquitin specific peptidase 9, Y-linked pseudogene 28 USP9YP28 Yes No HGNC:HGNC:38764 No +PA165791907 HGNC:38765 ubiquitin specific peptidase 9, Y-linked pseudogene 29 USP9YP29 Yes No HGNC:HGNC:38765 No +PA165791908 100874384 HGNC:38766 ENSG00000235004 ubiquitin specific peptidase 9, Y-linked pseudogene 30 USP9YP30 Yes No Ensembl:ENSG00000235004, HGNC:HGNC:38766, NCBI Gene:100874384 No chrY 27869137 27869295 25722990 25723148 +PA165791909 HGNC:38775 ubiquitin specific peptidase 9, Y-linked pseudogene 31 USP9YP31 Yes No HGNC:HGNC:38775 No +PA165791910 HGNC:38776 ubiquitin specific peptidase 9, Y-linked pseudogene 32 USP9YP32 Yes No HGNC:HGNC:38776 No +PA165791911 HGNC:38777 ubiquitin specific peptidase 9, Y-linked pseudogene 33 USP9YP33 Yes No HGNC:HGNC:38777 No +PA165791922 387361 HGNC:38778 ENSG00000233378 ubiquitin specific peptidase 9, Y-linked pseudogene 34 USP9YP34 Yes No Ensembl:ENSG00000233378, HGNC:HGNC:38778, NCBI Gene:387361 No chrY 20096129 20105267 17984249 17993387 +PA165791923 HGNC:38779 ubiquitin specific peptidase 9, Y-linked pseudogene 35 USP9YP35 Yes No HGNC:HGNC:38779 No +PA165791924 HGNC:38780 ubiquitin specific peptidase 9, Y-linked pseudogene 36 USP9YP36 Yes No HGNC:HGNC:38780 No +PA134872379 10208 HGNC:20294 ENSG00000132952 ubiquitin specific peptidase like 1 USPL1 C13orf22, D13S106E, bA121O19.1 Yes No Comparative Toxicogenomics Database:10208, Ensembl:ENSG00000132952, GeneCard:USPL1, HGNC:HGNC:20294, HumanCyc Gene:HS05710, ModBase:Q5W0Q7, NCBI Gene:10208, RefSeq DNA:NT_024524, RefSeq Protein:NP_005791, RefSeq RNA:NM_005800, UniProtKB:A8K1B1, UniProtKB:Q5W0Q7 No chr13 31191830 31233687 30617397 30660770 +PA38213 10090 HGNC:17223 ENSG00000111962 uronyl 2-sulfotransferase UST uronyl-2-sulfotransferase 2OST Yes Yes Comparative Toxicogenomics Database:10090, Ensembl:ENSG00000111962, GenAtlas:UST, GeneCard:UST, HGNC:HGNC:17223, HumanCyc Gene:HS03488, ModBase:Q9Y2C2, NCBI Gene:10090, OMIM:610752, RefSeq DNA:NT_025741, RefSeq Protein:NP_005706, RefSeq RNA:NM_005715, UCSC Genome Browser:NM_005715, UniProtKB:Q9Y2C2 No chr6 149068063 149398126 148745891 149076990 +PA37259 8433 HGNC:12634 ENSG00000171794 undifferentiated embryonic cell transcription factor 1 UTF1 Yes No Comparative Toxicogenomics Database:8433, Ensembl:ENSG00000171794, GenAtlas:UTF1, GeneCard:UTF1, HGNC:HGNC:12634, HumanCyc Gene:HS10383, ModBase:Q5T230, NCBI Gene:8433, OMIM:604130, RefSeq DNA:NT_008818, RefSeq Protein:NP_003568, RefSeq RNA:NM_003577, UCSC Genome Browser:NM_003577, UniProtKB:Q5T230 No chr10 135043778 135045062 133230274 133231558 +PA142670630 51118 HGNC:24329 ENSG00000183520 UTP11 small subunit processome component UTP11 """UTP11, small subunit processome component"", ""UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)"", ""UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)""" CGI-94, UTP11L Yes No Comparative Toxicogenomics Database:51118, Ensembl:ENSG00000183520, GeneCard:UTP11L, HGNC:HGNC:24329, ModBase:Q9Y3A2, NCBI Gene:51118, OMIM:609440, RefSeq DNA:NT_032977, RefSeq Protein:NP_057121, RefSeq RNA:NM_016037, UniProtKB:Q9Y3A2 No chr1 38478384 38490497 38012712 38024825 +PA35595 10813 HGNC:10665 ENSG00000156697 UTP14A small subunit processome component UTP14A """UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)"", ""UTP14A, small subunit processome component""" NY-CO-16, SDCCAG16, Utp14 Yes No Ensembl:ENSG00000156697, GenAtlas:UTP14A, GeneCard:UTP14A, HGNC:HGNC:10665, HumanCyc Gene:HS08147, ModBase:Q9BVJ6, NCBI Gene:10813, OMIM:300508, RefSeq DNA:NT_011786, RefSeq Protein:NP_001159693, RefSeq Protein:NP_006640, RefSeq RNA:NM_001166221, RefSeq RNA:NM_006649, UCSC Genome Browser:NM_006649, UniProtKB:B4DQ08, UniProtKB:Q9BVJ6 No chrX 129040097 129063738 129906121 129929762 +PA134944828 9724 HGNC:20321 ENSG00000253797 UTP14C small subunit processome component UTP14C """UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)"", ""UTP14C, small subunit processome component""" 2700066J21Rik, KIAA0266 Yes No Ensembl:ENSG00000253797, GeneCard:UTP14C, HGNC:HGNC:20321, ModBase:Q5TAP6, NCBI Gene:9724, OMIM:608969, RefSeq DNA:NT_024524, RefSeq Protein:NP_067677, RefSeq RNA:NM_021645, UniProtKB:Q5TAP6 No chr13 52598827 52607736 52024691 52033600 +PA142670631 84135 HGNC:25758 ENSG00000164338 UTP15 small subunit processome component UTP15 """UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)"", ""UTP15, small subunit processome component""" FLJ12787, FLJ23637, NET21 Yes No Ensembl:ENSG00000164338, GeneCard:UTP15, HGNC:HGNC:25758, HumanCyc Gene:HS15189, ModBase:Q8TED0, NCBI Gene:84135, RefSeq DNA:NT_006713, RefSeq Protein:NP_115551, RefSeq RNA:NM_032175, UniProtKB:Q8TED0 No chr5 72861568 72878984 73565741 73583377 +PA134984104 51096 HGNC:24274 ENSG00000011260 UTP18 small subunit processome component UTP18 """UTP18 small subunit (SSU) processome component homolog (yeast)"", ""UTP18, small subunit processome component""" CGI-48, WDR50 Yes No Ensembl:ENSG00000011260, GeneCard:UTP18, HGNC:HGNC:24274, HumanCyc Gene:HS12041, ModBase:Q9Y5J1, NCBI Gene:51096, OMIM:612816, RefSeq DNA:NT_010783, RefSeq Protein:NP_057085, RefSeq RNA:NM_016001, UniProtKB:Q9Y5J1 No chr17 49337897 49375294 51260536 51297933 +PA143485666 27340 HGNC:17897 ENSG00000120800 UTP20 small subunit processome component UTP20 """UTP20, small subunit (SSU) processome component, homolog (yeast)"", ""UTP20, small subunit processome component"", ""down regulated in metastasis""" 1A6/DRIM, DRIM Yes No Comparative Toxicogenomics Database:27340, Ensembl:ENSG00000120800, GeneCard:UTP20, HGNC:HGNC:17897, HumanCyc Gene:HS04436, ModBase:O75691, NCBI Gene:27340, OMIM:612822, RefSeq DNA:NT_029419, RefSeq Protein:NP_055318, RefSeq RNA:NM_014503, UniProtKB:O75691 No chr12 101673905 101780397 101280127 101386619 +PA162408778 84294 HGNC:28224 ENSG00000147679 UTP23 small subunit processome component UTP23 """UTP23, small subunit (SSU) processome component, homolog (yeast)"", ""UTP23, small subunit processome component""" C8orf53, MGC14595 Yes No Ensembl:ENSG00000147679, GeneCard:UTP23, HGNC:HGNC:28224, HumanCyc Gene:HS14214, ModBase:Q9BRU9, NCBI Gene:84294, RefSeq DNA:NT_008046, RefSeq Protein:NP_115710, RefSeq RNA:NM_032334, UniProtKB:Q9BRU9 No chr8 117778742 117792449 116766503 116774684 +PA142672491 27042 HGNC:28440 ENSG00000117597 UTP25 small subunit processome component UTP25 """UTP25 small subunit processor component"", ""UTP25, small subunit processor component"", ""digestive organ expansion factor homolog (zebrafish)""" C1orf107, DEF, DIEXF, MGC29875, UTP25 Yes No Ensembl:ENSG00000117597, GeneCard:C1orf107, HGNC:HGNC:28440, HumanCyc Gene:HS12899, ModBase:Q68CQ4, NCBI Gene:27042, RefSeq DNA:NT_167186, RefSeq Protein:NP_055203, RefSeq RNA:NM_014388, UniProtKB:Q68CQ4 No chr1 210001312 210030910 209827967 209857565 +PA162408779 57050 HGNC:24477 ENSG00000132467 UTP3 small subunit processome component UTP3 """UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)"", ""UTP3, small subunit processome component"", ""disrupter of silencing 10""" CRLZ1, DKFZp761F222, FLJ23256, SAS10 Yes No Comparative Toxicogenomics Database:57050, Ensembl:ENSG00000132467, GeneCard:UTP3, HGNC:HGNC:24477, HumanCyc Gene:HS13429, ModBase:Q9NQZ2, NCBI Gene:57050, OMIM:611614, RefSeq DNA:NT_006216, RefSeq DNA:NT_022778, RefSeq Protein:NP_065101, RefSeq RNA:NM_020368, UCSC Genome Browser:NM_020368, UniProtKB:Q9NQZ2 No chr4 71554196 71556268 70688479 70690551 +PA26520 84916 HGNC:1983 ENSG00000141076 UTP4 small subunit processome component UTP4 """UTP4, small subunit (SSU) processome component, homolog (yeast)"", ""UTP4, small subunit processome component"", ""cirrhosis, autosomal recessive 1A (cirhin)""" CIRH1A, CIRHIN, FLJ14728, KIAA1988, NAIC, TEX292, UTP4 Yes No Comparative Toxicogenomics Database:84916, Ensembl:ENSG00000141076, GenAtlas:CIRH1A, GeneCard:CIRH1A, HGNC:HGNC:1983, HumanCyc Gene:HS13860, ModBase:Q969X6, NCBI Gene:84916, OMIM:604901, OMIM:607456, RefSeq DNA:NG_008278, RefSeq DNA:NT_010498, RefSeq Protein:NP_116219, RefSeq RNA:NM_032830, UCSC Genome Browser:NM_032830, UniProtKB:Q969X6 No chr16 69166499 69202937 69132596 69169034 +PA142672224 55813 HGNC:18279 ENSG00000108651 UTP6 small subunit processome component UTP6 """UTP6, small subunit (SSU) processome component, homolog (yeast)"", ""UTP6, small subunit processome component"", ""hepatocellular carcinoma associated antigen 66""" C17orf40, HCA66 Yes No Ensembl:ENSG00000108651, GeneCard:UTP6, HGNC:HGNC:18279, HumanCyc Gene:HS03137, ModBase:Q9NYH9, NCBI Gene:55813, RefSeq DNA:NT_010799, RefSeq Protein:NP_060898, RefSeq RNA:NM_018428, UniProtKB:Q9NYH9 No chr17 30190190 30228729 31862379 31901710 +PA37260 7402 HGNC:12635 ENSG00000152818 utrophin UTRN DMDL, DRP, DRP1 Yes No Comparative Toxicogenomics Database:7402, Ensembl:ENSG00000152818, GenAtlas:UTRN, GeneCard:UTRN, HGNC:HGNC:12635, HumanCyc Gene:HS07856, ModBase:P46939, NCBI Gene:7402, OMIM:128240, RefSeq DNA:NT_025741, RefSeq Protein:NP_009055, RefSeq RNA:NM_007124, UCSC Genome Browser:NM_007124, UniProtKB:P46939, UniProtKB:Q6LBS5 No chr6 144606434 145174170 144284955 144853034 +PA37261 10911 HGNC:12636 ENSG00000049247 urotensin 2 UTS2 prepro U-II PRO1068, U-II, UCN2, UII Yes No Comparative Toxicogenomics Database:10911, Ensembl:ENSG00000049247, GenAtlas:UTS2, GeneCard:UTS2, HGNC:HGNC:12636, HumanCyc Gene:HS00617, NCBI Gene:10911, OMIM:604097, RefSeq DNA:NT_021937, RefSeq Protein:NP_006777, RefSeq Protein:NP_068835, RefSeq RNA:NM_006786, RefSeq RNA:NM_021995, UCSC Genome Browser:NM_006786, UniProtKB:A0AVP6, UniProtKB:O95399 No chr1 7907672 7913551 7846345 7913615 +PA142670632 257313 HGNC:30894 ENSG00000188958 urotensin 2B UTS2B prepro-URP U2B, URP, UTS2D Yes No Ensembl:ENSG00000188958, GeneCard:UTS2D, HGNC:HGNC:30894, NCBI Gene:257313, RefSeq DNA:NT_005612, RefSeq Protein:NP_937795, RefSeq RNA:NM_198152, UniProtKB:Q765I0 No chr3 190984944 191048325 191267155 191330536 +PA28857 2837 HGNC:4468 ENSG00000181408 urotensin 2 receptor UTS2R GPR14 Yes No Comparative Toxicogenomics Database:2837, Ensembl:ENSG00000181408, GenAtlas:UTS2R, GeneCard:UTS2R, HGNC:HGNC:4468, HumanCyc Gene:HS11614, IUPHAR Receptor:365, ModBase:Q9UKP6, NCBI Gene:2837, OMIM:600896, RefSeq DNA:NT_010663, RefSeq Protein:NP_061822, RefSeq RNA:NM_018949, UCSC Genome Browser:NM_018949, UniProtKB:Q9UKP6 No chr17 80330647 80333528 82374277 82375586 +PA37263 7404 HGNC:12638 ENSG00000183878 ubiquitously transcribed tetratricopeptide repeat containing, Y-linked UTY KDM6AL, KDM6C Yes No Ensembl:ENSG00000183878, GenAtlas:UTY, GeneCard:UTY, HGNC:HGNC:12638, HumanCyc Gene:HS07385, ModBase:O14607, NCBI Gene:7404, OMIM:400009, RefSeq DNA:NT_011875, RefSeq Protein:NP_009056, RefSeq Protein:NP_872600, RefSeq Protein:NP_872601, RefSeq RNA:NM_007125, RefSeq RNA:NM_182659, RefSeq RNA:NM_182660, UCSC Genome Browser:NM_007125, UniProtKB:O14607, UniProtKB:Q86UB8 No chrY 15360259 15592550 13230770 13480670 +PA37264 7405 HGNC:12640 ENSG00000198382 UV radiation resistance associated UVRAG beclin 1 binding protein VPS38 Yes No Comparative Toxicogenomics Database:7405, Ensembl:ENSG00000198382, GenAtlas:UVRAG, GeneCard:UVRAG, HGNC:HGNC:12640, ModBase:Q9P2Y5, NCBI Gene:7405, OMIM:602493, RefSeq DNA:NT_167190, RefSeq Protein:NP_003360, RefSeq RNA:NM_003369, UCSC Genome Browser:NM_003369, UniProtKB:Q9P2Y5 No chr11 75526212 75855282 75814852 76144238 +PA162393105 57654 HGNC:29304 ENSG00000163945 UV stimulated scaffold protein A UVSSA UV-stimulated scaffold protein A KIAA1530 Yes No Ensembl:ENSG00000163945, GeneCard:KIAA1530, HGNC:HGNC:29304, ModBase:Q2YD98, NCBI Gene:57654, RefSeq DNA:NT_037622, RefSeq Protein:NP_065945, RefSeq RNA:NM_020894, UniProtKB:Q2YD98 No chr4 1341043 1381837 1345662 1388049 +PA38465 80146 HGNC:17729 ENSG00000115652 UDP-glucuronate decarboxylase 1 UXS1 short chain dehydrogenase/reductase family 6E, member 12 FLJ23591, SDR6E1, UGD Yes No Ensembl:ENSG00000115652, GenAtlas:UXS1, GeneCard:UXS1, HGNC:HGNC:17729, HumanCyc Gene:HS03922, ModBase:Q8NBZ7, NCBI Gene:80146, OMIM:609749, RefSeq DNA:NT_022171, RefSeq Protein:NP_079352, RefSeq RNA:NM_025076, UCSC Genome Browser:NM_025076, UniProtKB:Q8NBZ7 No chr2 106709759 106810795 106093303 106194339 +PA37265 8409 HGNC:12641 ENSG00000126756 ubiquitously expressed prefoldin like chaperone UXT """SKP2-associated alpha PFD 1"", ""androgen receptor trapped clone 27"", ""ubiquitously-expressed, prefoldin-like chaperone""" ART-27, SKP2, STAP1 Yes No Comparative Toxicogenomics Database:8409, Ensembl:ENSG00000126756, GenAtlas:UXT, GeneCard:UXT, HGNC:HGNC:12641, HumanCyc Gene:HS05043, ModBase:Q9UBK9, NCBI Gene:8409, OMIM:300234, RefSeq DNA:NT_079573, RefSeq Protein:NP_004173, RefSeq Protein:NP_705582, RefSeq RNA:NM_004182, RefSeq RNA:NM_153477, UCSC Genome Browser:NM_004182, UniProtKB:Q9UBK9 No chrX 47511191 47518579 47651792 47659180 +PA142670633 55697 HGNC:25507 ENSG00000103043 VAC14 component of PIKFYVE complex VAC14 """Vac14 homolog (S. cerevisiae)"", ""Vac14, PIKFYVE complex component""" ArPIKfyve, FLJ10305, TAX1BP2 Yes Yes Ensembl:ENSG00000103043, GeneCard:VAC14, HGNC:HGNC:25507, HumanCyc Gene:HS02446, ModBase:Q08AM6, NCBI Gene:55697, OMIM:604632, RefSeq DNA:NT_010498, RefSeq Protein:NP_060522, RefSeq RNA:NM_018052, UniProtKB:Q08AM6, UniProtKB:Q9NTB8 No chr16 70721342 70835074 70687439 70801169 +PA37266 6843 HGNC:12642 ENSG00000139190 vesicle associated membrane protein 1 VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1) SYB1, VAMP-1 Yes No Ensembl:ENSG00000139190, GenAtlas:VAMP1, GeneCard:VAMP1, HGNC:HGNC:12642, HumanCyc Gene:HS06592, ModBase:P23763, NCBI Gene:6843, OMIM:185880, RefSeq DNA:NT_009759, RefSeq Protein:NP_055046, RefSeq Protein:NP_058439, RefSeq Protein:NP_954740, RefSeq RNA:NM_014231, RefSeq RNA:NM_016830, RefSeq RNA:NM_199245, UCSC Genome Browser:NM_014231, UniProtKB:P23763 No chr12 6571403 6579843 6462237 6470899 +PA37267 6844 HGNC:12643 ENSG00000220205 vesicle associated membrane protein 2 VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2) SYB2, VAMP-2 Yes No Comparative Toxicogenomics Database:6844, Ensembl:ENSG00000220205, GenAtlas:VAMP2, GeneCard:VAMP2, HGNC:HGNC:12643, ModBase:P63027, NCBI Gene:6844, OMIM:185881, RefSeq DNA:NT_010718, RefSeq Protein:NP_055047, RefSeq RNA:NM_014232, UCSC Genome Browser:NM_014232, UniProtKB:P63027 No chr17 8062465 8066293 8159147 8162975 +PA37268 9341 HGNC:12644 ENSG00000049245 vesicle associated membrane protein 3 VAMP3 cellubrevin, vesicle-associated membrane protein 3 CEB Yes No Comparative Toxicogenomics Database:9341, Ensembl:ENSG00000049245, GenAtlas:VAMP3, GeneCard:VAMP3, HGNC:HGNC:12644, HumanCyc Gene:HS00615, ModBase:Q15836, NCBI Gene:9341, OMIM:603657, RefSeq DNA:NT_021937, RefSeq Protein:NP_004772, RefSeq RNA:NM_004781, UCSC Genome Browser:NM_004781, UniProtKB:Q15836, UniProtKB:Q6FGG2, UniProtKB:Q9BRV4 No chr1 7831329 7841492 7771269 7781432 +PA37269 8674 HGNC:12645 ENSG00000117533 vesicle associated membrane protein 4 VAMP4 vesicle-associated membrane protein 4 Yes No Ensembl:ENSG00000117533, GenAtlas:VAMP4, GeneCard:VAMP4, HGNC:HGNC:12645, HumanCyc Gene:HS04147, ModBase:O75379, NCBI Gene:8674, OMIM:606909, RefSeq DNA:NT_004487, RefSeq Protein:NP_001172056, RefSeq Protein:NP_003753, RefSeq RNA:NM_001185127, RefSeq RNA:NM_003762, RefSeq RNA:NR_033704, UCSC Genome Browser:NM_003762, UniProtKB:O75379, UniProtKB:Q6IAZ3 No chr1 171669296 171711379 171700156 171742239 +PA37270 10791 HGNC:12646 ENSG00000168899 vesicle associated membrane protein 5 VAMP5 myobrevin, vesicle-associated membrane protein 5 Yes No Comparative Toxicogenomics Database:10791, Ensembl:ENSG00000168899, GenAtlas:VAMP5, GeneCard:VAMP5, HGNC:HGNC:12646, HumanCyc Gene:HS09845, ModBase:O95183, NCBI Gene:10791, OMIM:607029, RefSeq DNA:NT_022184, RefSeq Protein:NP_006625, RefSeq RNA:NM_006634, UCSC Genome Browser:NM_006634, UniProtKB:O95183, UniProtKB:Q6FG93 No chr2 85811531 85820511 85584408 85593388 +PA162408786 6845 HGNC:11486 ENSG00000124333 vesicle associated membrane protein 7 VAMP7 vesicle-associated membrane protein 7 SYBL1, TI-VAMP, VAMP-7 Yes No Ensembl:ENSG00000124333, GeneCard:VAMP7, HGNC:HGNC:11486, HumanCyc Gene:HS04759, ModBase:P51809, NCBI Gene:6845, OMIM:300053, RefSeq DNA:NG_021435, RefSeq DNA:NT_167198, RefSeq DNA:NT_167206, RefSeq Protein:NP_001138621, RefSeq Protein:NP_001172112, RefSeq Protein:NP_005629, RefSeq RNA:NM_001145149, RefSeq RNA:NM_001185183, RefSeq RNA:NM_005638, RefSeq RNA:NR_033714, RefSeq RNA:NR_033715, UniProtKB:P51809 No chrX 155110943 155173433 155881280 155943769 +PA37271 8673 HGNC:12647 ENSG00000118640 vesicle associated membrane protein 8 VAMP8 endobrevin, vesicle-associated membrane protein 8 EDB, VAMP-8 Yes No Comparative Toxicogenomics Database:8673, Ensembl:ENSG00000118640, GenAtlas:VAMP8, GeneCard:VAMP8, HGNC:HGNC:12647, HumanCyc Gene:HS04240, ModBase:Q9BV40, NCBI Gene:8673, OMIM:603177, RefSeq DNA:NG_022887, RefSeq DNA:NT_022184, RefSeq Protein:NP_003752, RefSeq RNA:NM_003761, UCSC Genome Browser:NM_003761, UniProtKB:Q9BV40 No chr2 85804614 85809156 85577491 85582033 +PA37971 81839 HGNC:15512 ENSG00000173218 VANGL planar cell polarity protein 1 VANGL1 STB2 Yes No Comparative Toxicogenomics Database:81839, Ensembl:ENSG00000173218, GenAtlas:VANGL1, GeneCard:VANGL1, HGNC:HGNC:15512, HumanCyc Gene:HS10632, ModBase:Q8TAA9, NCBI Gene:81839, OMIM:182940, OMIM:600145, OMIM:610132, RefSeq DNA:NG_016548, RefSeq DNA:NT_032977, RefSeq Protein:NP_001165882, RefSeq Protein:NP_001165883, RefSeq Protein:NP_620409, RefSeq RNA:NM_001172411, RefSeq RNA:NM_001172412, RefSeq RNA:NM_138959, UCSC Genome Browser:NM_138959, UniProtKB:Q8TAA9 No chr1 116184574 116240845 115641953 115698224 +PA37970 57216 HGNC:15511 ENSG00000162738 VANGL planar cell polarity protein 2 VANGL2 """loop-tail-associated protein"", ""strabismus"", ""vang, van gogh-like 2""" KIAA1215, LPP1, LTAP, MGC119403, MGC119404, STB1, STBM, STBM1 Yes No Comparative Toxicogenomics Database:57216, Ensembl:ENSG00000162738, GenAtlas:VANGL2, GeneCard:VANGL2, HGNC:HGNC:15511, HumanCyc Gene:HS14960, ModBase:Q9ULK5, NCBI Gene:57216, OMIM:600533, RefSeq DNA:NG_023420, RefSeq DNA:NT_004487, RefSeq Protein:NP_065068, RefSeq RNA:NM_020335, UniProtKB:Q9ULK5 No chr1 160370364 160398468 160400574 160428678 +PA37272 9218 HGNC:12648 ENSG00000101558 VAMP associated protein A VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa VAP-A, hVAP-33 Yes No Comparative Toxicogenomics Database:9218, Ensembl:ENSG00000101558, GenAtlas:VAPA, GeneCard:VAPA, HGNC:HGNC:12648, HumanCyc Gene:HS02290, ModBase:Q9P0L0, NCBI Gene:9218, OMIM:605703, RefSeq DNA:NT_010859, RefSeq Protein:NP_003565, RefSeq Protein:NP_919415, RefSeq RNA:NM_003574, RefSeq RNA:NM_194434, UCSC Genome Browser:NM_003574, UniProtKB:Q9P0L0 No chr18 9913955 9960018 9913958 9960021 +PA37273 9217 HGNC:12649 ENSG00000124164 VAMP associated protein B and C VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C ALS8, VAP-B, VAP-C Yes No Comparative Toxicogenomics Database:9217, Ensembl:ENSG00000124164, GenAtlas:VAPB, GeneCard:VAPB, HGNC:HGNC:12649, HumanCyc Gene:HS04725, ModBase:O95292, NCBI Gene:9217, OMIM:182980, OMIM:605704, OMIM:608627, RefSeq DNA:NG_008073, RefSeq DNA:NT_011362, RefSeq Protein:NP_001182606, RefSeq Protein:NP_004729, RefSeq RNA:NM_001195677, RefSeq RNA:NM_004738, RefSeq RNA:NR_036633, UCSC Genome Browser:NM_004738, UniProtKB:O95292, UniProtKB:Q53XM7, UniProtKB:Q6ZSP7 No chr20 56964175 57026157 58389119 58451101 +PA37275 7407 HGNC:12651 valyl-tRNA synthetase 1 VARS1 """valine tRNA ligase 1, cytoplasmic"", ""valyl-tRNA synthetase""" VARS, VARS2 Yes No Comparative Toxicogenomics Database:7407, GenAtlas:VARS, GeneCard:VARS, HGNC:HGNC:12651, HumanCyc Gene:HS01855, HumanCyc Gene:HS11461, ModBase:P26640, NCBI Gene:7407, OMIM:192150, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_006286, RefSeq RNA:NM_006295, UCSC Genome Browser:NM_006295, UniProtKB:P26640 No chr6 31745295 31763712 31777518 31795935 +PA164742816 57176 HGNC:21642 ENSG00000137411, ENSG00000206375, ENSG00000223494, ENSG00000230985 valyl-tRNA synthetase 2, mitochondrial VARS2 valine tRNA ligase 2, mitochondrial DKFZP434L1435, G7a, KIAA1885, VARS2L, VARSL Yes No Comparative Toxicogenomics Database:57176, Ensembl:ENSG00000137411, Ensembl:ENSG00000206375, Ensembl:ENSG00000223494, Ensembl:ENSG00000230985, GeneCard:VARS2, HGNC:HGNC:21642, HumanCyc Gene:HS06340, HumanCyc Gene:HS11471, ModBase:Q96GN2, NCBI Gene:57176, OMIM:612802, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_113893, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001161205, RefSeq Protein:NP_001161206, RefSeq Protein:NP_065175, RefSeq RNA:NM_001167733, RefSeq RNA:NM_001167734, RefSeq RNA:NM_020442, UniProtKB:Q5ST30 No chr6 30881982 30894236 30914208 30926459 +PA134941450 22846 HGNC:19964 ENSG00000071246 vasohibin 1 VASH1 KIAA1036 Yes No Comparative Toxicogenomics Database:22846, Ensembl:ENSG00000071246, GeneCard:VASH1, HGNC:HGNC:19964, HumanCyc Gene:HS12215, ModBase:Q7L8A9, NCBI Gene:22846, OMIM:609011, RefSeq DNA:NT_026437, RefSeq Protein:NP_055724, RefSeq RNA:NM_014909, UniProtKB:Q7L8A9 No chr14 77228235 77249363 76761457 76783020 +PA145147736 79805 HGNC:25723 ENSG00000143494 vasohibin 2 VASH2 FLJ12505 Yes No Ensembl:ENSG00000143494, GeneCard:VASH2, HGNC:HGNC:25723, HumanCyc Gene:HS13970, NCBI Gene:79805, OMIM:610471, RefSeq DNA:NT_167186, RefSeq Protein:NP_001129946, RefSeq Protein:NP_001129947, RefSeq Protein:NP_079025, RefSeq RNA:NM_001136474, RefSeq RNA:NM_001136475, RefSeq RNA:NM_024749, UniProtKB:B4DYZ5, UniProtKB:Q86V25 No chr1 213123887 213164986 212935543 212991585 +PA134974883 114990 HGNC:18517 ENSG00000168140 vasorin VASN SLITL2 Yes No Comparative Toxicogenomics Database:114990, Ensembl:ENSG00000168140, GeneCard:VASN, HGNC:HGNC:18517, ModBase:Q6EMK4, NCBI Gene:114990, OMIM:608843, RefSeq DNA:NT_010393, RefSeq Protein:NP_612449, RefSeq RNA:NM_138440, UniProtKB:Q6EMK4 No chr16 4421849 4433529 4371848 4383528 +PA37276 7408 HGNC:12652 ENSG00000125753 vasodilator stimulated phosphoprotein VASP vasodilator-stimulated phosphoprotein Yes Yes Comparative Toxicogenomics Database:7408, Ensembl:ENSG00000125753, GenAtlas:VASP, GeneCard:VASP, HGNC:HGNC:12652, HumanCyc Gene:HS04927, ModBase:P50552, NCBI Gene:7408, OMIM:601703, RefSeq DNA:NT_011109, RefSeq Protein:NP_003361, RefSeq RNA:NM_003370, UCSC Genome Browser:NM_003370, UniProtKB:P50552 No chr19 46010688 46030247 45507430 45526989 +PA166352263 10493 HGNC:16919 vesicle amine transport 1 VAT1 FLJ20230, VATI Yes No HGNC:HGNC:16919, NCBI Gene:10493 No 0 0 0 0 +PA164727497 57687 HGNC:29315 ENSG00000171724 vesicle amine transport 1 like VAT1L vesicle amine transport 1-like, vesicle amine transport protein 1 homolog (T. californica)-like KIAA1576 Yes No Ensembl:ENSG00000171724, GeneCard:VAT1L, HGNC:HGNC:29315, HumanCyc Gene:HS10372, ModBase:Q9HCJ6, NCBI Gene:57687, RefSeq DNA:NT_010498, RefSeq Protein:NP_065978, RefSeq RNA:NM_020927, UCSC Genome Browser:NM_020927, UniProtKB:Q9HCJ6 No chr16 77822483 78014001 77788564 77980107 +PA37280 7409 HGNC:12657 ENSG00000141968 vav guanine nucleotide exchange factor 1 VAV1 vav 1 guanine nucleotide exchange factor VAV Yes No Comparative Toxicogenomics Database:7409, Ensembl:ENSG00000141968, GenAtlas:VAV1, GeneCard:VAV1, HGNC:HGNC:12657, HumanCyc Gene:HS06882, ModBase:P15498, NCBI Gene:7409, OMIM:164875, RefSeq DNA:NT_011255, RefSeq Protein:NP_005419, RefSeq RNA:NM_005428, UCSC Genome Browser:NM_005428, UniProtKB:P15498 No chr19 6772679 6857377 6772668 6857366 +PA37281 7410 HGNC:12658 ENSG00000160293 vav guanine nucleotide exchange factor 2 VAV2 vav 2 guanine nucleotide exchange factor Yes No Comparative Toxicogenomics Database:7410, Ensembl:ENSG00000160293, GenAtlas:VAV2, GeneCard:VAV2, HGNC:HGNC:12658, HumanCyc Gene:HS08481, ModBase:Q6Q317, NCBI Gene:7410, OMIM:600428, RefSeq DNA:NT_035014, RefSeq Protein:NP_001127870, RefSeq Protein:NP_003362, RefSeq RNA:NM_001134398, RefSeq RNA:NM_003371, UCSC Genome Browser:NM_003371, UniProtKB:P52735 No chr9 136627016 136857496 133761894 133992374 +PA37282 10451 HGNC:12659 ENSG00000134215 vav guanine nucleotide exchange factor 3 VAV3 vav 3 guanine nucleotide exchange factor Yes No Comparative Toxicogenomics Database:10451, Ensembl:ENSG00000134215, GenAtlas:VAV3, GeneCard:VAV3, HGNC:HGNC:12659, HumanCyc Gene:HS05834, ModBase:Q9UKW4, NCBI Gene:10451, OMIM:605541, RefSeq DNA:NT_032977, RefSeq Protein:NP_001073343, RefSeq Protein:NP_006104, RefSeq RNA:NM_001079874, RefSeq RNA:NM_006113, UCSC Genome Browser:NM_006113, UniProtKB:B4E232, UniProtKB:Q9UKW4 No chr1 108113782 108507545 107571160 107964923 +PA37283 11023 HGNC:12660 ENSG00000148704 ventral anterior homeobox 1 VAX1 Yes No Ensembl:ENSG00000148704, GenAtlas:VAX1, GeneCard:VAX1, HGNC:HGNC:12660, ModBase:Q5SQQ9, NCBI Gene:11023, OMIM:604294, RefSeq DNA:NG_012317, RefSeq DNA:NT_030059, RefSeq Protein:NP_001106175, RefSeq Protein:NP_954582, RefSeq RNA:NM_001112704, RefSeq RNA:NM_199131, UniProtKB:Q5SQQ9 No chr10 118888032 118897812 117128521 117138301 +PA37284 25806 HGNC:12661 ENSG00000116035 ventral anterior homeobox 2 VAX2 DRES93 Yes No Comparative Toxicogenomics Database:25806, Ensembl:ENSG00000116035, GenAtlas:VAX2, GeneCard:VAX2, HGNC:HGNC:12661, HumanCyc Gene:HS03974, ModBase:Q9UIW0, NCBI Gene:25806, OMIM:604295, RefSeq DNA:NT_022184, RefSeq Protein:NP_036608, RefSeq RNA:NM_012476, UCSC Genome Browser:NM_012476, UniProtKB:Q9UIW0 No chr2 71127720 71160576 70900551 70933446 +PA37285 7411 HGNC:12662 ENSG00000155959 VHL binding protein 1 VBP1 prefoldin 3, von Hippel-Lindau binding protein 1 PFD3, PFDN3 Yes No Comparative Toxicogenomics Database:7411, Ensembl:ENSG00000155959, GenAtlas:VBP1, GeneCard:VBP1, HGNC:HGNC:12662, HumanCyc Gene:HS08084, ModBase:P61758, NCBI Gene:7411, OMIM:300133, RefSeq DNA:NG_005114, RefSeq DNA:NG_013269, RefSeq DNA:NT_167198, RefSeq Protein:NP_003363, RefSeq RNA:NM_003372, UCSC Genome Browser:NM_003372, UniProtKB:P61758 No chrX 154425290 154468098 155197007 155239841 +PA37286 7412 HGNC:12663 ENSG00000162692 vascular cell adhesion molecule 1 VCAM1 CD106 Yes No Comparative Toxicogenomics Database:7412, Ensembl:ENSG00000162692, GenAtlas:VCAM1, GeneCard:VCAM1, HGNC:HGNC:12663, HumanCyc Gene:HS08718, ModBase:P19320, NCBI Gene:7412, OMIM:192225, RefSeq DNA:NG_023034, RefSeq DNA:NT_032977, RefSeq Protein:NP_001069, RefSeq Protein:NP_001186763, RefSeq Protein:NP_542413, RefSeq RNA:NM_001078, RefSeq RNA:NM_001199834, RefSeq RNA:NM_080682, UCSC Genome Browser:NM_001078, UniProtKB:P19320 No chr1 101185196 101204601 100719640 100739045 +PA162408788 1462 HGNC:2464 ENSG00000038427 versican VCAN versican proteoglycan CSPG2, PG-M Yes No Ensembl:ENSG00000038427, GeneCard:VCAN, HGNC:HGNC:2464, HumanCyc Gene:HS00535, ModBase:P13611, NCBI Gene:1462, OMIM:118661, OMIM:143200, RefSeq DNA:NG_012682, RefSeq DNA:NT_006713, RefSeq Protein:NP_001119808, RefSeq Protein:NP_001157569, RefSeq Protein:NP_001157570, RefSeq Protein:NP_004376, RefSeq RNA:NM_001126336, RefSeq RNA:NM_001164097, RefSeq RNA:NM_001164098, RefSeq RNA:NM_004385, UniProtKB:P13611, UniProtKB:Q59FG9, UniProtKB:Q6MZK8, UniProtKB:Q86W61 No chr5 82767493 82878122 83471674 83582303 +PA142671787 84923 HGNC:25918 ENSG00000133193 VCP nuclear cofactor family member 1 VCF1 """family with sequence similarity 104 member A"", ""family with sequence similarity 104, member A""" FAM104A, FLJ14775 Yes No Ensembl:ENSG00000133193, GeneCard:FAM104A, HGNC:HGNC:25918, HumanCyc Gene:HS13467, NCBI Gene:84923, RefSeq DNA:NT_010783, RefSeq Protein:NP_001092302, RefSeq Protein:NP_116226, RefSeq RNA:NM_001098832, RefSeq RNA:NM_032837, UniProtKB:B4E339, UniProtKB:Q969W3 No chr17 71203492 71228533 73207353 73232394 +PA134945008 90736 HGNC:25085 ENSG00000182518 VCP nuclear cofactor family member 2 VCF2 """family with sequence similarity 104 member B"", ""family with sequence similarity 104, member B""" CXorf44, FAM104B, FLJ20434 Yes No Ensembl:ENSG00000182518, GeneCard:FAM104B, HGNC:HGNC:25085, NCBI Gene:90736, RefSeq DNA:NT_011630, RefSeq Protein:NP_001160171, RefSeq Protein:NP_001160172, RefSeq Protein:NP_001160173, RefSeq Protein:NP_001160174, RefSeq Protein:NP_001160175, RefSeq Protein:NP_001160176, RefSeq Protein:NP_612371, RefSeq RNA:NM_001166699, RefSeq RNA:NM_001166700, RefSeq RNA:NM_001166701, RefSeq RNA:NM_001166702, RefSeq RNA:NM_001166703, RefSeq RNA:NM_001166704, RefSeq RNA:NM_138362, RefSeq RNA:NR_030722, UniProtKB:B4DSV6, UniProtKB:D6R9S5, UniProtKB:D6RDJ5, UniProtKB:Q5XKR9, UniProtKB:Q5XLR8 No chrX 55169535 55187628 55143102 55161195 +PA37288 7414 HGNC:12665 ENSG00000035403 vinculin VCL metavinculin VINC Yes No Comparative Toxicogenomics Database:7414, Ensembl:ENSG00000035403, GenAtlas:VCL, GeneCard:VCL, HGNC:HGNC:12665, HumanCyc Gene:HS00506, ModBase:P18206, NCBI Gene:7414, OMIM:193065, OMIM:611407, OMIM:613255, RefSeq DNA:NG_008868, RefSeq DNA:NT_030059, RefSeq Protein:NP_003364, RefSeq Protein:NP_054706, RefSeq RNA:NM_003373, RefSeq RNA:NM_014000, UCSC Genome Browser:NM_003373, UniProtKB:B3KXA2, UniProtKB:P18206 No chr10 75757836 75879918 73998114 74120160 +PA37289 7415 HGNC:12666 ENSG00000165280 valosin containing protein VCP transitional endoplasmic reticulum ATPase CDC48, IBMPFD, TERA, p97 Yes No Comparative Toxicogenomics Database:7415, Ensembl:ENSG00000165280, GenAtlas:VCP, GeneCard:VCP, HGNC:HGNC:12666, HumanCyc Gene:HS09212, ModBase:P55072, NCBI Gene:7415, OMIM:167320, OMIM:601023, RefSeq DNA:NG_007887, RefSeq DNA:NT_008413, RefSeq Protein:NP_009057, RefSeq RNA:NM_007126, UCSC Genome Browser:NM_007126, UniProtKB:P55072, UniProtKB:Q96IF9 No chr9 35056065 35072739 35056068 35072742 +PA142670629 80124 HGNC:30897 ENSG00000175073 valosin containing protein interacting protein 1 VCPIP1 valosin containing protein (p97)/p47 complex interacting protein 1 DUBA3, FLJ23132, KIAA1850, VCIP135 Yes No Comparative Toxicogenomics Database:80124, Ensembl:ENSG00000175073, GeneCard:VCPIP1, HGNC:HGNC:30897, ModBase:Q96JH7, NCBI Gene:80124, OMIM:611745, RefSeq DNA:NT_008183, RefSeq Protein:NP_079330, RefSeq RNA:NM_025054, UniProtKB:Q96JH7 No chr8 67542488 67579452 66630253 66667217 +PA134866014 79609 HGNC:20352 ENSG00000100483 valosin containing protein lysine methyltransferase VCPKMT methyltransferase like 21D, valosin containing protein lysine (K) methyltransferase C14orf138, METTL21D, VCP-KMT Yes No Ensembl:ENSG00000100483, GeneCard:C14orf138, HGNC:HGNC:20352, HumanCyc Gene:HS12413, ModBase:Q9H867, NCBI Gene:79609, RefSeq DNA:NT_026437, RefSeq Protein:NP_001035752, RefSeq Protein:NP_078834, RefSeq RNA:NM_001040662, RefSeq RNA:NM_024558, UniProtKB:B7ZLA4, UniProtKB:Q9H867 No chr14 50572967 50583626 50100456 50118343 +PA37290 26609 HGNC:12667 ENSG00000182583 variable charge X-linked VCX variable charge, X-linked VCX-10r, VCX-B1, VCX1, VCX10R Yes No Ensembl:ENSG00000182583, GenAtlas:VCX, GeneCard:VCX, HGNC:HGNC:12667, ModBase:Q9H320, NCBI Gene:26609, OMIM:300229, RefSeq DNA:NT_167197, RefSeq Protein:NP_038480, RefSeq RNA:NM_013452, UCSC Genome Browser:NM_013452, UniProtKB:Q9H320 No chrX 7810303 7812184 7842262 7844143 +PA134891971 51480 HGNC:18158 ENSG00000177504 variable charge X-linked 2 VCX2 variable charge, X-linked 2 VCX-2R, VCX-2r Yes No Ensembl:ENSG00000177504, GeneCard:VCX2, HGNC:HGNC:18158, HumanCyc Gene:HS11178, NCBI Gene:51480, OMIM:300532, RefSeq DNA:NT_167197, RefSeq Protein:NP_057462, RefSeq RNA:NM_016378, UniProtKB:Q9H322 No chrX 8137985 8139308 8169944 8171267 +PA134936169 51481 HGNC:18159 ENSG00000169059 variable charge X-linked 3A VCX3A variable charge, X-linked 3A VCX-8R, VCX-8r, VCX-A, VCX3 Yes No Ensembl:ENSG00000169059, GeneCard:VCX3A, HGNC:HGNC:18159, HumanCyc Gene:HS09875, ModBase:Q9NNX9, NCBI Gene:51481, OMIM:300533, RefSeq DNA:NG_011539, RefSeq DNA:NT_167197, RefSeq Protein:NP_057463, RefSeq RNA:NM_016379, UniProtKB:Q9NNX9 No chrX 6451659 6453159 6533618 6535118 +PA134866686 425054 HGNC:31838 ENSG00000205642 variable charge X-linked 3B VCX3B variable charge, X-linked 3B VCX-C Yes No Ensembl:ENSG00000205642, GeneCard:VCX3B, HGNC:HGNC:31838, ModBase:Q9H321, NCBI Gene:425054, RefSeq DNA:NT_167197, RefSeq Protein:NP_001001888, RefSeq RNA:NM_001001888, UniProtKB:Q9H321 No chrX 8432871 8434551 8464830 8466510 +PA37291 9084 HGNC:12668 ENSG00000129862, ENSG00000129864 variable charge Y-linked VCY variable charge, Y-linked BPY1, VCY1, VCY1A Yes No Ensembl:ENSG00000129862, Ensembl:ENSG00000129864, GenAtlas:VCY, GeneCard:VCY, HGNC:HGNC:12668, HumanCyc Gene:HS13312, HumanCyc Gene:HS13313, NCBI Gene:9084, OMIM:400012, RefSeq DNA:NG_004442, RefSeq DNA:NT_011875, RefSeq Protein:NP_004670, RefSeq RNA:NM_004679, UCSC Genome Browser:NM_004679, UniProtKB:O14598 No chrY 16097652 16098392 13985772 13986512 +PA134979097 353513 HGNC:31751 ENSG00000129862 variable charge Y-linked 1B VCY1B variable charge, Y-linked 1B BPY1B Yes No Ensembl:ENSG00000129862, GeneCard:VCY1B, HGNC:HGNC:31751, NCBI Gene:353513, RefSeq DNA:NG_004442, RefSeq DNA:NT_011875, RefSeq Protein:NP_870996, RefSeq RNA:NM_181880 No chrY 16168102 16168838 14056222 14056958 +PA37292 7416 HGNC:12669 ENSG00000213585 voltage dependent anion channel 1 VDAC1 voltage-dependent anion channel 1 MGC111064, PORIN Yes No Comparative Toxicogenomics Database:7416, Ensembl:ENSG00000213585, GenAtlas:VDAC1, GeneCard:VDAC1, HGNC:HGNC:12669, HumanCyc Gene:HS01121, NCBI Gene:7416, OMIM:604492, RefSeq DNA:NT_034772, RefSeq Protein:NP_003365, RefSeq RNA:NM_001401020, RefSeq RNA:NM_001401021, RefSeq RNA:NM_003374, UCSC Genome Browser:NM_003374, UniProtKB:P21796 No chr5 133307566 133341300 133971875 134070987 +PA37293 10064 HGNC:12670 ENSG00000213856 voltage-dependent anion channel 1 pseudogene 2 VDAC1P2 Yes No Ensembl:ENSG00000213856, GenAtlas:VDAC1LP, GeneCard:VDAC1P2, HGNC:HGNC:12670, NCBI Gene:10064, RefSeq DNA:NG_001223, RefSeq DNA:NT_086939 No chrX 49396238 49397962 49631635 49633359 +PA37298 7418 HGNC:12675 ENSG00000235060 voltage-dependent anion channel 1 pseudogene 4 VDAC1P4 Yes No Ensembl:ENSG00000235060, GenAtlas:VDAC4, GeneCard:VDAC1P4, HGNC:HGNC:12675, NCBI Gene:7418, OMIM:610030, RefSeq DNA:NT_004487 No chr1 180403931 180405937 180434796 180436802 +PA37299 10187 HGNC:12676 ENSG00000270858 voltage-dependent anion channel 1 pseudogene 5 VDAC1P5 Yes No Ensembl:ENSG00000270858, GenAtlas:VDAC5P, GeneCard:VDAC1P5, HGNC:HGNC:12676, NCBI Gene:10187, RefSeq DNA:NG_000882, RefSeq DNA:NT_029419 No chr12 55195669 55197407 54801885 54803623 +PA37295 7417 HGNC:12672 ENSG00000165637 voltage dependent anion channel 2 VDAC2 voltage-dependent anion channel 2 Yes No Comparative Toxicogenomics Database:7417, Ensembl:ENSG00000165637, GenAtlas:VDAC2, GeneCard:VDAC2, HGNC:HGNC:12672, HumanCyc Gene:HS09259, ModBase:P45880, NCBI Gene:7417, OMIM:193245, RefSeq DNA:NT_030059, RefSeq Protein:NP_001171712, RefSeq Protein:NP_001171752, RefSeq Protein:NP_003366, RefSeq RNA:NM_001184783, RefSeq RNA:NM_001184823, RefSeq RNA:NM_003375, RefSeq RNA:NR_033675, UCSC Genome Browser:NM_003375, UniProtKB:P45880 No chr10 76969912 76991206 75210154 75231448 +PA37296 54015 HGNC:12673 ENSG00000214976 voltage-dependent anion channel 2 pseudogene 1 VDAC2P1 Yes No Ensembl:ENSG00000214976, GenAtlas:VDAC2P, GeneCard:VDAC2P1, HGNC:HGNC:12673, NCBI Gene:54015, RefSeq DNA:NG_000899, RefSeq DNA:NT_011512 No chr21 17466509 17467792 16094189 16095472 +PA144596243 643996 HGNC:32693 ENSG00000255776 voltage-dependent anion channel 2 pseudogene 2 VDAC2P2 Yes No Ensembl:ENSG00000255776, GeneCard:VDAC2P2, HGNC:HGNC:32693, NCBI Gene:643996, RefSeq DNA:NG_021271, RefSeq DNA:NT_009714 No chr12 9188920 9190119 9036324 9037523 +PA37297 7419 HGNC:12674 ENSG00000078668 voltage dependent anion channel 3 VDAC3 voltage-dependent anion channel 3 HD-VDAC3 Yes No Ensembl:ENSG00000078668, GenAtlas:VDAC3, GeneCard:VDAC3, HGNC:HGNC:12674, HumanCyc Gene:HS01294, ModBase:Q9Y277, NCBI Gene:7419, OMIM:610029, RefSeq DNA:NT_167187, RefSeq Protein:NP_001129166, RefSeq Protein:NP_005653, RefSeq RNA:NM_001135694, RefSeq RNA:NM_005662, UCSC Genome Browser:NM_005662, UniProtKB:Q9Y277 No chr8 42249279 42263455 42391624 42405937 +PA37301 7421 HGNC:12679 ENSG00000111424 vitamin D receptor VDR """1,25- dihydroxyvitamin D3 receptor"", ""protein phosphatase 1, regulatory subunit 163"", ""vitamin D (1,25- dihydroxyvitamin D3) receptor""" NR1I1, PPP1R163 Yes Yes Comparative Toxicogenomics Database:7421, Ensembl:ENSG00000111424, GenAtlas:VDR, GeneCard:VDR, HGNC:HGNC:12679, HumanCyc Gene:HS03416, ModBase:P11473, NCBI Gene:7421, OMIM:166710, OMIM:277440, OMIM:601769, RefSeq DNA:NG_008731, RefSeq DNA:NT_029419, RefSeq Protein:NP_000367, RefSeq Protein:NP_001017535, RefSeq Protein:NP_001017536, RefSeq RNA:NM_000376, RefSeq RNA:NM_001017535, RefSeq RNA:NM_001017536, UCSC Genome Browser:NM_000376, UniProtKB:P11473 No chr12 48235320 48298814 47841537 47905031 +PA37302 7422 HGNC:12680 ENSG00000112715 vascular endothelial growth factor A VEGFA VEGF, VEGF-A, VPF Yes Yes Comparative Toxicogenomics Database:7422, Ensembl:ENSG00000112715, GenAtlas:VEGF, GeneCard:VEGFA, HGNC:HGNC:12680, HumanCyc Gene:HS03611, ModBase:Q96L82, NCBI Gene:7422, OMIM:125853, OMIM:192240, OMIM:603933, RefSeq DNA:NG_008732, RefSeq DNA:NT_007592, RefSeq Protein:NP_001020537, RefSeq Protein:NP_001020538, RefSeq Protein:NP_001020539, RefSeq Protein:NP_001020540, RefSeq Protein:NP_001020541, RefSeq Protein:NP_001028928, RefSeq Protein:NP_001165093, RefSeq Protein:NP_001165094, RefSeq Protein:NP_001165095, RefSeq Protein:NP_001165096, RefSeq Protein:NP_001165097, RefSeq Protein:NP_001165098, RefSeq Protein:NP_001165099, RefSeq Protein:NP_001165100, RefSeq Protein:NP_001165101, RefSeq Protein:NP_001191313, RefSeq Protein:NP_001191314, RefSeq Protein:NP_003367, RefSeq RNA:NM_001025366, RefSeq RNA:NM_001025367, RefSeq RNA:NM_001025368, RefSeq RNA:NM_001025369, RefSeq RNA:NM_001025370, RefSeq RNA:NM_001033756, RefSeq RNA:NM_001171622, RefSeq RNA:NM_001171623, RefSeq RNA:NM_001171624, RefSeq RNA:NM_001171625, RefSeq RNA:NM_001171626, RefSeq RNA:NM_001171627, RefSeq RNA:NM_001171628, RefSeq RNA:NM_001171629, RefSeq RNA:NM_001171630, RefSeq RNA:NM_001204384, RefSeq RNA:NM_001204385, RefSeq RNA:NM_003376, UCSC Genome Browser:NM_003376, UniProtKB:P15692 No chr6 43737946 43754224 43770209 43786487 +PA37303 7423 HGNC:12681 ENSG00000173511 vascular endothelial growth factor B VEGFB VEGFL, VRF Yes Yes Comparative Toxicogenomics Database:7423, Ensembl:ENSG00000173511, GenAtlas:VEGFB, GeneCard:VEGFB, HGNC:HGNC:12681, HumanCyc Gene:HS10678, ModBase:P49765, NCBI Gene:7423, OMIM:601398, RefSeq DNA:NT_167190, RefSeq Protein:NP_003368, RefSeq RNA:NM_003377, UCSC Genome Browser:NM_003377, UniProtKB:P49765, UniProtKB:Q7LAP4 No chr11 64002056 64006736 64234584 64239264 +PA37304 7424 HGNC:12682 ENSG00000150630 vascular endothelial growth factor C VEGFC vascular endothelial growth factor-related protein VEGF-C, VRP Yes Yes Comparative Toxicogenomics Database:7424, Ensembl:ENSG00000150630, GenAtlas:VEGFC, GeneCard:VEGFC, HGNC:HGNC:12682, HumanCyc Gene:HS07679, ModBase:P49767, NCBI Gene:7424, OMIM:601528, RefSeq DNA:NT_016354, RefSeq Protein:NP_005420, RefSeq RNA:NM_005429, UCSC Genome Browser:NM_005429, UniProtKB:P49767 No chr4 177604689 177713899 176683534 176792745 +PA28146 2277 HGNC:3708 ENSG00000165197 vascular endothelial growth factor D VEGFD VEGFD, c-fos induced growth factor (vascular endothelial growth factor D) FIGF, VEGF-D Yes No Comparative Toxicogenomics Database:2277, Ensembl:ENSG00000165197, GenAtlas:FIGF, GeneCard:FIGF, HGNC:HGNC:3708, HumanCyc Gene:HS09199, ModBase:O43915, NCBI Gene:2277, OMIM:300091, RefSeq DNA:NG_012509, RefSeq DNA:NT_167197, RefSeq Protein:NP_004460, RefSeq RNA:NM_004469, UCSC Genome Browser:NM_004469, UniProtKB:O43915 No chrX 15363713 15402535 15345591 15384413 +PA37803 27287 HGNC:13639 ENSG00000151650 VENT homeobox VENTX HPX42B, VENTX2 Yes No Ensembl:ENSG00000151650, GenAtlas:VENTX, GeneCard:VENTX, HGNC:HGNC:13639, HumanCyc Gene:HS07756, ModBase:O95231, NCBI Gene:27287, OMIM:607158, RefSeq DNA:NT_008818, RefSeq Protein:NP_055283, RefSeq RNA:NM_014468, UCSC Genome Browser:NM_014468, UniProtKB:O95231 No chr10 135051408 135055433 133237904 133241930 +PA142670622 139538 HGNC:30900 ENSG00000259849 VENT homeobox pseudogene 1 VENTXP1 cancer/testis antigen 18, tumor antigen NA88A CT18, NA88A Yes No Ensembl:ENSG00000259849, GeneCard:VENTXP1, HGNC:HGNC:30900, NCBI Gene:139538, RefSeq DNA:NT_167197, RefSeq RNA:NR_001559 No chrX 26576454 26579169 26558337 26561052 +PA142670623 347975 HGNC:30901 ENSG00000215037 VENT homeobox pseudogene 2 VENTXP2 Yes No Ensembl:ENSG00000215037, GeneCard:VENTXP2, HGNC:HGNC:30901, NCBI Gene:347975, RefSeq DNA:NG_002909, RefSeq DNA:NT_024524 No chr13 +PA142670624 349814 HGNC:30902 ENSG00000257364 VENT homeobox pseudogene 3 VENTXP3 Yes No Ensembl:ENSG00000257364, GeneCard:VENTXP3, HGNC:HGNC:30902, NCBI Gene:349814, RefSeq DNA:NG_002911, RefSeq DNA:NT_029419 No chr12 74686093 74688112 74292313 74294332 +PA142670625 152101 HGNC:30903 ENSG00000230465 VENT homeobox pseudogene 4 VENTXP4 Yes No Ensembl:ENSG00000230465, GeneCard:VENTXP4, HGNC:HGNC:30903, NCBI Gene:152101, RefSeq DNA:NG_002906, RefSeq DNA:NT_022517 No chr3 26387754 26389216 26346263 26347725 +PA142670626 442384 HGNC:32214 ENSG00000253569 VENT homeobox pseudogene 5 VENTXP5 Yes No Ensembl:ENSG00000253569, GeneCard:VENTXP5, HGNC:HGNC:32214, NCBI Gene:442384, RefSeq DNA:NG_005091, RefSeq DNA:NT_167187 No chr8 33578698 33580606 33721194 33723089 +PA142670627 552879 HGNC:32216 ENSG00000254105 VENT homeobox pseudogene 6 VENTXP6 Yes No Ensembl:ENSG00000254105, GeneCard:VENTXP6, HGNC:HGNC:32216, NCBI Gene:552879, RefSeq DNA:NG_005090, RefSeq DNA:NT_008183 No chr8 74563245 74564176 73651010 73651941 +PA134983728 391518 HGNC:13638 ENSG00000236380 VENT homeobox pseudogene 7 VENTXP7 HPX42 Yes Yes Ensembl:ENSG00000236380, GeneCard:VENTXP7, HGNC:HGNC:13638, NCBI Gene:391518, RefSeq DNA:NT_022517, RefSeq RNA:NR_002311 No chr3 21447218 21448200 21405726 21406708 +PA134952229 79674 HGNC:25735 ENSG00000197415 ventricular zone expressed PH domain containing 1 VEPH1 ventricular zone expressed PH domain-containing 1 FLJ12604, KIAA1692 Yes No Comparative Toxicogenomics Database:79674, Ensembl:ENSG00000197415, GeneCard:VEPH1, HGNC:HGNC:25735, ModBase:Q9H9Q7, NCBI Gene:79674, OMIM:609594, RefSeq DNA:NT_005612, RefSeq Protein:NP_001161383, RefSeq Protein:NP_001161384, RefSeq Protein:NP_001161387, RefSeq Protein:NP_001161388, RefSeq Protein:NP_001161389, RefSeq Protein:NP_078897, RefSeq RNA:NM_001167911, RefSeq RNA:NM_001167912, RefSeq RNA:NM_001167915, RefSeq RNA:NM_001167916, RefSeq RNA:NM_001167917, RefSeq RNA:NM_024621, UniProtKB:Q14D04 No chr3 156977531 157221415 157259742 157503626 +PA162408823 7716 HGNC:12949 ENSG00000136451 vascular endothelial zinc finger 1 VEZF1 DB1, ZNF161 Yes No Ensembl:ENSG00000136451, GeneCard:VEZF1, HGNC:HGNC:12949, HumanCyc Gene:HS06163, ModBase:Q14119, NCBI Gene:7716, OMIM:606747, RefSeq DNA:NT_010783, RefSeq Protein:NP_009077, RefSeq RNA:NM_007146, UniProtKB:Q14119 No chr17 56048908 56065615 57971547 57988254 +PA143485667 55591 HGNC:18258 ENSG00000028203 vezatin, adherens junctions transmembrane protein VEZT DKFZP761C241 Yes No Ensembl:ENSG00000028203, GeneCard:VEZT, HGNC:HGNC:18258, HumanCyc Gene:HS00463, ModBase:Q9HBM0, NCBI Gene:55591, RefSeq DNA:NT_029419, RefSeq Protein:NP_060069, RefSeq RNA:NM_017599, RefSeq RNA:NR_038241, RefSeq RNA:NR_038242, UniProtKB:Q9HBM0 No chr12 95611522 95696566 95217746 95302799 +PA37305 7425 HGNC:12684 ENSG00000128564 VGF nerve growth factor inducible VGF neuro-endocrine specific protein VGF SCG7, SgVII Yes No Comparative Toxicogenomics Database:7425, Ensembl:ENSG00000128564, GenAtlas:VGF, GeneCard:VGF, HGNC:HGNC:12684, HumanCyc Gene:HS05195, ModBase:O15240, NCBI Gene:7425, OMIM:602186, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_003369, RefSeq RNA:NM_003378, UCSC Genome Browser:NM_003378, UniProtKB:O15240 No chr7 100805790 100810862 101162509 101169956 +PA134923162 51442 HGNC:20985 ENSG00000102243 vestigial like family member 1 VGLL1 vestigial like 1 (Drosophila), vestigial-like family member 1 TDU, TONDU Yes No Ensembl:ENSG00000102243, GeneCard:VGLL1, HGNC:HGNC:20985, HumanCyc Gene:HS02374, ModBase:Q99990, NCBI Gene:51442, OMIM:300583, RefSeq DNA:NG_013270, RefSeq DNA:NT_011786, RefSeq Protein:NP_057351, RefSeq RNA:NM_016267, UniProtKB:Q99990 No chrX 135614311 135638966 136532152 136556807 +PA134881890 245806 HGNC:20232 ENSG00000170162 vestigial like family member 2 VGLL2 vestigial like 2 (Drosophila), vestigial-like family member 2 Yes No Ensembl:ENSG00000170162, GeneCard:VGLL2, HGNC:HGNC:20232, HumanCyc Gene:HS15851, ModBase:Q8N8G2, NCBI Gene:245806, OMIM:609979, RefSeq DNA:NT_025741, RefSeq Protein:NP_703154, RefSeq Protein:NP_872586, RefSeq RNA:NM_153453, RefSeq RNA:NM_182645, UniProtKB:Q8N8G2 No chr6 117586721 117594728 117265558 117273565 +PA142670628 389136 HGNC:24327 ENSG00000206538 vestigial like family member 3 VGLL3 vestigial like 3 (Drosophila), vestigial-like family member 3 VGL-3 Yes No Comparative Toxicogenomics Database:389136, Ensembl:ENSG00000206538, GeneCard:VGLL3, HGNC:HGNC:24327, ModBase:A8MV65, NCBI Gene:389136, OMIM:609980, RefSeq DNA:NT_022459, RefSeq Protein:NP_057290, RefSeq RNA:NM_016206, UniProtKB:A8MV65 No chr3 86987123 87040412 86937969 86991293 +PA128394553 9686 HGNC:28966 ENSG00000144560 vestigial like family member 4 VGLL4 vestigial like 4 (Drosophila), vestigial-like family member 4 KIAA0121 Yes No Comparative Toxicogenomics Database:9686, Ensembl:ENSG00000144560, GeneCard:VGLL4, HGNC:HGNC:28966, ModBase:Q14135, NCBI Gene:9686, RefSeq DNA:NT_022517, RefSeq Protein:NP_001121691, RefSeq Protein:NP_001121692, RefSeq Protein:NP_001121693, RefSeq Protein:NP_055482, RefSeq RNA:NM_001128219, RefSeq RNA:NM_001128220, RefSeq RNA:NM_001128221, RefSeq RNA:NM_014667, UniProtKB:Q0H0I7, UniProtKB:Q14135 No chr3 11597543 11762220 11556067 11720768 +PA37307 7428 HGNC:12687 ENSG00000134086 von Hippel-Lindau tumor suppressor VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase VHL1 Yes No Comparative Toxicogenomics Database:7428, Ensembl:ENSG00000134086, GenAtlas:VHL, GeneCard:VHL, HGNC:HGNC:12687, HumanCyc Gene:HS05817, NCBI Gene:7428, OMIM:144700, OMIM:171300, OMIM:193300, OMIM:263400, OMIM:608537, RefSeq DNA:NG_008212, RefSeq DNA:NT_022517, RefSeq Protein:NP_000542, RefSeq Protein:NP_937799, RefSeq RNA:NM_000551, RefSeq RNA:NM_198156, UCSC Genome Browser:NM_000551, UniProtKB:P40337 No chr3 10183319 10195354 10141635 10153670 +PA134987272 391104 HGNC:30666 ENSG00000189030 VHL like VHLL von Hippel-Lindau tumor suppressor-like VHLP, VLP Yes No Ensembl:ENSG00000189030, GeneCard:VHLL, HGNC:HGNC:30666, ModBase:Q6RSH7, NCBI Gene:391104, RefSeq DNA:NG_012639, RefSeq DNA:NT_004487, RefSeq Protein:NP_001004319, RefSeq RNA:NM_001004319, UniProtKB:Q6RSH7 No chr1 156268415 156269428 156298624 156299637 +PA37309 7429 HGNC:12690 ENSG00000127831 villin 1 VIL1 D2S1471, VIL Yes No Ensembl:ENSG00000127831, GenAtlas:VIL1, GeneCard:VIL1, HGNC:HGNC:12690, HumanCyc Gene:HS05128, ModBase:P09327, NCBI Gene:7429, OMIM:193040, RefSeq DNA:NT_005403, RefSeq Protein:NP_009058, RefSeq RNA:NM_007127, UCSC Genome Browser:NM_007127, UniProtKB:P09327, UniProtKB:Q53F91 No chr2 219283838 219314248 218419115 218449525 +PA134911684 50853 HGNC:30906 ENSG00000136059 villin like VILL villin-like Yes No Comparative Toxicogenomics Database:50853, Ensembl:ENSG00000136059, GeneCard:VILL, HGNC:HGNC:30906, HumanCyc Gene:HS06109, ModBase:O15195, NCBI Gene:50853, RefSeq DNA:NT_022517, RefSeq Protein:NP_056957, RefSeq RNA:NM_015873, UniProtKB:O15195 No chr3 38032217 38048676 37987974 38007188 +PA37311 7431 HGNC:12692 ENSG00000026025 vimentin VIM Yes No Comparative Toxicogenomics Database:7431, Ensembl:ENSG00000026025, GenAtlas:VIM, GeneCard:VIM, HGNC:HGNC:12692, HumanCyc Gene:HS00446, ModBase:Q96ML2, NCBI Gene:7431, OMIM:193060, RefSeq DNA:NG_012413, RefSeq DNA:NT_008705, RefSeq Protein:NP_003371, RefSeq RNA:NM_003380, UCSC Genome Browser:NM_003380, UniProtKB:P08670 No chr10 17269934 17279592 17227935 17237593 +PA37312 7432 HGNC:12693 ENSG00000146469 vasoactive intestinal peptide VIP prepro-VIP Yes No Comparative Toxicogenomics Database:7432, Ensembl:ENSG00000146469, GenAtlas:VIP, GeneCard:VIP, HGNC:HGNC:12693, HumanCyc Gene:HS07352, ModBase:P01282, NCBI Gene:7432, OMIM:192320, RefSeq DNA:NT_025741, RefSeq Protein:NP_003372, RefSeq Protein:NP_919416, RefSeq RNA:NM_003381, RefSeq RNA:NM_194435, UCSC Genome Browser:NM_003381, UniProtKB:P01282 No chr6 153071932 153080900 152747894 152759765 +PA165479332 63894 HGNC:20347 ENSG00000151445 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog VIPAS39 """Spermatogenesis-defective protein 39 homolog"", ""VPS33B interacting protein, apical-basolateral polarity regulator""" C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39 Yes No Ensembl:ENSG00000151445, GeneCard:VIPAR, HGNC:HGNC:20347, HumanCyc Gene:HS14366, ModBase:Q9H9C1, NCBI Gene:63894, OMIM:613401, OMIM:613404, RefSeq DNA:NG_023421, RefSeq DNA:NT_026437, RefSeq Protein:NP_001180243, RefSeq Protein:NP_001180244, RefSeq Protein:NP_001180245, RefSeq Protein:NP_001180246, RefSeq Protein:NP_071350, RefSeq RNA:NM_001193314, RefSeq RNA:NM_001193315, RefSeq RNA:NM_001193316, RefSeq RNA:NM_001193317, RefSeq RNA:NM_022067, UniProtKB:Q6IA61, UniProtKB:Q9H9C1 No chr14 77893018 77923983 77426675 77457640 +PA37313 7433 HGNC:12694 ENSG00000114812 vasoactive intestinal peptide receptor 1 VIPR1 VIP and PACAP receptor 1 HVR1, RDC1, VPAC1, VPAC1R Yes No Comparative Toxicogenomics Database:7433, Ensembl:ENSG00000114812, GenAtlas:VIPR1, GeneCard:VIPR1, HGNC:HGNC:12694, HumanCyc Gene:HS03804, IUPHAR Receptor:371, ModBase:P32241, NCBI Gene:7433, OMIM:192321, RefSeq DNA:NT_022517, RefSeq Protein:NP_004615, RefSeq RNA:NM_004624, UCSC Genome Browser:NM_004624, UniProtKB:P32241 No chr3 42530791 42579065 42489299 42537573 +PA37314 7434 HGNC:12695 ENSG00000106018 vasoactive intestinal peptide receptor 2 VIPR2 VIP and PACAP receptor 2 VPAC2, VPAC2R Yes No Comparative Toxicogenomics Database:7434, Ensembl:ENSG00000106018, GenAtlas:VIPR2, GeneCard:VIPR2, HGNC:HGNC:12695, HumanCyc Gene:HS02849, IUPHAR Receptor:372, ModBase:P41587, NCBI Gene:7434, OMIM:601970, RefSeq DNA:NT_007741, RefSeq DNA:NT_079596, RefSeq Protein:NP_003373, RefSeq RNA:NM_003382, UCSC Genome Browser:NM_003382, UniProtKB:P41587 No chr7 158820866 158937649 159028175 159144957 +PA142671611 25962 HGNC:24500 ENSG00000164944 vir like m6A methyltransferase associated VIRMA functional spliceosome-associated protein 121, virilizer homolog DKFZP434I116, KIAA1429, fSAP121 Yes No Ensembl:ENSG00000164944, GeneCard:KIAA1429, HGNC:HGNC:24500, HumanCyc Gene:HS09164, ModBase:Q9NWR3, NCBI Gene:25962, RefSeq DNA:NT_008046, RefSeq Protein:NP_056311, RefSeq Protein:NP_892121, RefSeq RNA:NM_015496, RefSeq RNA:NM_183009, UniProtKB:Q69YN4 No chr8 95500005 95565746 94487777 94553518 +PA37315 7435 HGNC:12696 viral integration site 1 VIS1 HIS1 Yes No GenAtlas:VIS1, GeneCard:VIS1, HGNC:HGNC:12696, NCBI Gene:7435, OMIM:164755 No chr2 +PA37316 5212 HGNC:12697 ENSG00000205221 vitrin VIT Yes No Ensembl:ENSG00000205221, GenAtlas:VIT, GeneCard:VIT, HGNC:HGNC:12697, ModBase:Q6UXI7, NCBI Gene:5212, RefSeq DNA:NT_022184, RefSeq Protein:NP_001171440, RefSeq Protein:NP_001171441, RefSeq Protein:NP_001171442, RefSeq Protein:NP_001171443, RefSeq Protein:NP_444506, RefSeq RNA:NM_001177969, RefSeq RNA:NM_001177970, RefSeq RNA:NM_001177971, RefSeq RNA:NM_001177972, RefSeq RNA:NM_053276, UCSC Genome Browser:NM_053276, UniProtKB:A1A526, UniProtKB:Q6UXI7, UniProtKB:Q9UDN0 No chr2 36923833 37041937 36696685 36814794 +PA133787052 79001 HGNC:23663 ENSG00000167397 vitamin K epoxide reductase complex subunit 1 VKORC1 vitamin K epoxide reductase complex, subunit 1 VKCFD2 Yes Yes Comparative Toxicogenomics Database:79001, Ensembl:ENSG00000167397, GeneCard:VKORC1, HGNC:HGNC:23663, HumanCyc Gene:HS15548, ModBase:Q9BQB6, NCBI Gene:79001, OMIM:122700, OMIM:607473, OMIM:608547, RefSeq DNA:NG_011564, RefSeq DNA:NT_010393, RefSeq Protein:NP_076869, RefSeq Protein:NP_996560, RefSeq RNA:NM_024006, RefSeq RNA:NM_206824, UniProtKB:A6NIQ6, UniProtKB:Q9BQB6 Yes chr16 31102175 31106699 31090842 31094999 +PA134931578 154807 HGNC:21492 ENSG00000196715 vitamin K epoxide reductase complex subunit 1 like 1 VKORC1L1 vitamin K epoxide reductase complex, subunit 1-like 1 Yes Yes Ensembl:ENSG00000196715, GeneCard:VKORC1L1, HGNC:HGNC:21492, ModBase:Q8N0U8, NCBI Gene:154807, OMIM:608838, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_775788, RefSeq RNA:NM_173517, UniProtKB:Q8N0U8 No chr7 65338257 65424545 65835816 65959563 +PA37317 7436 HGNC:12698 ENSG00000147852 very low density lipoprotein receptor VLDLR CARMQ1, CHRMQ1, VLDLRCH Yes No Comparative Toxicogenomics Database:7436, Ensembl:ENSG00000147852, GenAtlas:VLDLR, GeneCard:VLDLR, HGNC:HGNC:12698, HumanCyc Gene:HS07471, ModBase:P98155, NCBI Gene:7436, OMIM:192977, OMIM:224050, RefSeq DNA:NG_012741, RefSeq DNA:NT_008413, RefSeq Protein:NP_001018066, RefSeq Protein:NP_003374, RefSeq RNA:NM_001018056, RefSeq RNA:NM_003383, UCSC Genome Browser:NM_003383, UniProtKB:P98155, UniProtKB:Q5VVF5 No chr9 2621679 2654485 2621679 2656103 +PA164727498 203547 HGNC:22082 ENSG00000160131 vacuolar ATPase assembly factor VMA21 VMA21 """VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)"", ""VMA21, vacuolar ATPase assembly factor""" MEAX, XMEA Yes No Ensembl:ENSG00000160131, GeneCard:VMA21, HGNC:HGNC:22082, NCBI Gene:203547, OMIM:310440, RefSeq DNA:NG_016761, RefSeq DNA:NT_167198, RefSeq Protein:NP_001017980, RefSeq RNA:NM_001017980, UniProtKB:Q3ZAQ7 No chrX 150565657 150577836 151396555 151409364 +PA165394584 400673 HGNC:33803 ENSG00000187650 vimentin type intermediate filament associated coiled-coil protein VMAC vimentin-type intermediate filament associated coiled-coil protein Yes No Ensembl:ENSG00000187650, GeneCard:VMAC, HGNC:HGNC:33803, NCBI Gene:400673, RefSeq DNA:NT_011255, RefSeq Protein:NP_001017921, RefSeq RNA:NM_001017921, UniProtKB:Q2NL98 No chr19 5904852 5910263 5904841 5910252 +PA142670619 284013 HGNC:30387 ENSG00000182853 vitelline membrane outer layer 1 homolog VMO1 vitelline membrane outer layer 1 homolog (chicken) Yes No Ensembl:ENSG00000182853, GeneCard:VMO1, HGNC:HGNC:30387, ModBase:Q7Z5L0, NCBI Gene:284013, RefSeq DNA:NT_010718, RefSeq Protein:NP_001138411, RefSeq Protein:NP_001138412, RefSeq Protein:NP_001138413, RefSeq Protein:NP_872372, RefSeq RNA:NM_001144939, RefSeq RNA:NM_001144940, RefSeq RNA:NM_001144941, RefSeq RNA:NM_182566, UniProtKB:C9JQ15, UniProtKB:Q7Z5L0 No chr17 4688580 4689729 4785285 4786434 +PA142670765 81671 HGNC:29559 ENSG00000062716 vacuole membrane protein 1 VMP1 ectopic P-granules autophagy protein 3 homolog (C. elegans), transport and golgi organization 5 homolog (Drosophila) EPG3, TANGO5, TMEM49 Yes No Comparative Toxicogenomics Database:81671, Ensembl:ENSG00000062716, GeneCard:TMEM49, HGNC:HGNC:29559, HumanCyc Gene:HS12159, ModBase:Q96GC9, NCBI Gene:81671, OMIM:611753, RefSeq DNA:NT_010783, RefSeq Protein:NP_112200, RefSeq RNA:NM_030938, UniProtKB:Q96GC9 No chr17 57784553 57919610 59707502 59840593 +PA134957891 57191 HGNC:13548 ENSG00000178201 vomeronasal 1 receptor 1 VN1R1 V1RL1, VNR19I1, ZVNH1, ZVNR1 Yes No Ensembl:ENSG00000178201, GeneCard:VN1R1, HGNC:HGNC:13548, HumanCyc Gene:HS11262, ModBase:Q9GZP7, NCBI Gene:57191, OMIM:605234, RefSeq DNA:NT_011109, RefSeq Protein:NP_065684, RefSeq RNA:NM_020633, UniProtKB:Q9GZP7 No chr19 57966542 57968107 57455174 57456739 +PA134924180 387316 HGNC:13550 ENSG00000220758 vomeronasal 1 receptor 10 pseudogene VN1R10P b24o18.2, hs6V1-1p Yes No Ensembl:ENSG00000220758, GeneCard:VN1R10P, HGNC:HGNC:13550, NCBI Gene:387316, RefSeq DNA:NG_015638, RefSeq Protein:NP_114419, RefSeq RNA:NM_032030 No chr6 27292540 27293742 27324761 27325963 +PA134877123 387317 HGNC:13551 ENSG00000219770 vomeronasal 1 receptor 11 pseudogene VN1R11P VNR6I2P, dJ86C11.7, hs6V1-2p Yes No Ensembl:ENSG00000219770, GeneCard:VN1R11P, HGNC:HGNC:13551, NCBI Gene:387317, RefSeq DNA:NG_015637 No chr6 27051071 27051995 27083292 27084216 +PA134920620 387321 HGNC:18722 ENSG00000220581 vomeronasal 1 receptor 12 pseudogene VN1R12P VNR6I3P, bA373D17.2, hs6V1-3p Yes No Ensembl:ENSG00000220581, GeneCard:VN1R12P, HGNC:HGNC:18722, NCBI Gene:387321, RefSeq DNA:NG_015635 No chr6 27001125 27002122 27033346 27034343 +PA134891801 387322 HGNC:18723 ENSG00000216762 vomeronasal 1 receptor 13 pseudogene VN1R13P VNR6I4P, bA373D17.3, hs6V1-4p Yes No Ensembl:ENSG00000216762, GeneCard:VN1R13P, HGNC:HGNC:18723, NCBI Gene:387322, RefSeq DNA:NG_015636 No chr6 27028149 27029046 27060370 27061267 +PA134900405 387320 HGNC:18721 vomeronasal 1 receptor 14 pseudogene VN1R14P VNR6I5P, bA457M11.4, hs6M1-5p Yes No GeneCard:VN1R14P, HGNC:HGNC:18721, NCBI Gene:387320, RefSeq DNA:NG_015634 No chr6 26631313 26631964 26631085 26631736 +PA134969616 317701 HGNC:19872 ENSG00000196131 vomeronasal 1 receptor 2 VN1R2 V1RL2 Yes No Ensembl:ENSG00000196131, GeneCard:VN1R2, HGNC:HGNC:19872, ModBase:Q8NFZ6, NCBI Gene:317701, RefSeq DNA:NT_011109, RefSeq Protein:NP_776255, RefSeq RNA:NM_173856, UniProtKB:Q8NFZ6 No chr19 53761545 53762855 53258292 53259602 +PA142670620 317702 HGNC:19867 ENSG00000180663 vomeronasal 1 receptor 3 (gene/pseudogene) VN1R3 FKSG46, V1RL3 Yes No Ensembl:ENSG00000180663, GeneCard:VN1R3, HGNC:HGNC:19867, HumanCyc Gene:HS11516, ModBase:Q9BXE9, NCBI Gene:317702, RefSeq DNA:NG_005664, RefSeq DNA:NT_010393 No chr16 31818911 31820167 31807590 31808846 +PA134985458 317703 HGNC:19871 ENSG00000228567 vomeronasal 1 receptor 4 VN1R4 V1RL4 Yes No Ensembl:ENSG00000228567, GeneCard:VN1R4, HGNC:HGNC:19871, HumanCyc Gene:HS10820, ModBase:Q7Z5H5, NCBI Gene:317703, RefSeq DNA:NT_011109, RefSeq Protein:NP_776256, RefSeq RNA:NM_173857, UniProtKB:Q7Z5H5 No chr19 53770013 53770918 53264418 53270939 +PA134993066 317705 HGNC:19870 ENSG00000197617 vomeronasal 1 receptor 5 (gene/pseudogene) VN1R5 V1RL5 Yes No Ensembl:ENSG00000197617, GeneCard:VN1R5, HGNC:HGNC:19870, ModBase:Q7Z5H4, NCBI Gene:317705, RefSeq DNA:NT_167186, RefSeq Protein:NP_776257, RefSeq RNA:NM_173858, UniProtKB:Q7Z5H4 No chr1 247419374 247420447 247256072 247257145 +PA134881974 653753 HGNC:13712 ENSG00000174677 vomeronasal 1 receptor 6 pseudogene VN1R6P ZVNH2, ZVNR2 Yes No Ensembl:ENSG00000174677, GeneCard:VN1R6P, HGNC:HGNC:13712, NCBI Gene:653753, RefSeq DNA:NG_012999, RefSeq DNA:NT_011109, RefSeq RNA:XR_039409, RefSeq RNA:XR_039415, RefSeq RNA:XR_039593 No chr19 53818331 53819385 53315137 53316043 +PA32816 100132759 HGNC:8496 ENSG00000275592 vomeronasal 1 receptor 7 pseudogene VN1R7P Yes No Ensembl:ENSG00000275592, GeneCard:VN1R7P, HGNC:HGNC:8496, NCBI Gene:100132759, RefSeq DNA:NG_002218, RefSeq DNA:NT_011519, RefSeq DNA:NT_029490 No chr21 11153077 11154804 10357653 10359380 +PA32817 54041 HGNC:8497 ENSG00000219280 vomeronasal 1 receptor 8 pseudogene VN1R8P Yes No Ensembl:ENSG00000219280, GeneCard:VN1R8P, HGNC:HGNC:8497, NCBI Gene:54041, RefSeq DNA:NG_002647, RefSeq DNA:NT_011512 No chr21 14848562 14849776 13476241 13477455 +PA134967341 317691 HGNC:20257 ENSG00000276400 vomeronasal 1 receptor 9 pseudogene VN1R9P VN1R22-1P Yes No Ensembl:ENSG00000276400, GeneCard:VN1R9P, HGNC:HGNC:20257, NCBI Gene:317691, RefSeq DNA:NG_002459, RefSeq DNA:NG_015792, RefSeq DNA:NT_011519 No chr22 17502245 17503160 17021355 17022270 +PA142672202 344760 HGNC:30344 ENSG00000174930 vomeronasal 2 receptor 1 pseudogene VN2R1P GPRC2B Yes No Ensembl:ENSG00000174930, HGNC:HGNC:30344, NCBI Gene:344760, RefSeq DNA:NT_005612, RefSeq Protein:XP_293581, RefSeq Protein:XP_946327, RefSeq RNA:XM_293581, RefSeq RNA:XM_941234 No chr3 155751371 155755436 156033582 156037647 +PA37321 8876 HGNC:12705 ENSG00000112299 vanin 1 VNN1 pantetheinase, pantetheine hydrolase Tiff66 Yes No Comparative Toxicogenomics Database:8876, Ensembl:ENSG00000112299, GenAtlas:VNN1, GeneCard:VNN1, HGNC:HGNC:12705, HumanCyc Gene:HS03552, ModBase:O95497, NCBI Gene:8876, OMIM:603570, RefSeq DNA:NG_012147, RefSeq DNA:NT_025741, RefSeq Protein:NP_004657, RefSeq RNA:NM_004666, UCSC Genome Browser:NM_004666, UniProtKB:O95497 No chr6 133001997 133035194 132680858 132714055 +PA37322 8875 HGNC:12706 ENSG00000112303 vanin 2 VNN2 pantetheinase FOAP-4, GPI-80 Yes No Ensembl:ENSG00000112303, GenAtlas:VNN2, GeneCard:VNN2, HGNC:HGNC:12706, HumanCyc Gene:HS03553, ModBase:O95498, NCBI Gene:8875, OMIM:603571, RefSeq DNA:NT_025741, RefSeq Protein:NP_001229279, RefSeq Protein:NP_004656, RefSeq Protein:NP_511043, RefSeq RNA:NM_001242350, RefSeq RNA:NM_004665, RefSeq RNA:NM_078488, RefSeq RNA:NR_034173, RefSeq RNA:NR_034174, RefSeq RNA:NR_034175, UCSC Genome Browser:NM_004665, UniProtKB:A8K7W0, UniProtKB:O95498 No chr6 133065009 133084598 132743503 132763489 +PA165618503 81552 HGNC:34518 ENSG00000154978 VOPP1 WW domain binding protein VOPP1 """EGFR-coamplified and overexpressed protein"", ""Glioblastoma-amplified secreted protein"", ""VOPP1, WBP1/VOPP1 family member"", ""vesicular, overexpressed in cancer, prosurvival protein 1""" DKFZp564K0822, ECop, FLJ20532, GASP, WBP1L2 Yes No Ensembl:ENSG00000154978, GeneCard:VOPP1, HGNC:HGNC:34518, HumanCyc Gene:HS14546, NCBI Gene:81552, OMIM:611915, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_110423, RefSeq RNA:NM_030796, UniProtKB:Q96AW1 No chr7 55538303 55640200 55434406 55572520 +PA37324 7441 HGNC:12709 ENSG00000169575 V-set pre-B cell surrogate light chain 1 VPREB1 pre-B lymphocyte 1 CD179A, VpreB Yes No Ensembl:ENSG00000169575, GenAtlas:VPREB1, GeneCard:VPREB1, HGNC:HGNC:12709, HumanCyc Gene:HS09971, ModBase:P12018, NCBI Gene:7441, OMIM:605141, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520, RefSeq Protein:NP_009059, RefSeq RNA:NM_007128, UCSC Genome Browser:NM_007128, UniProtKB:P12018 No chr22 22599200 22599926 22244780 22245515 +PA37325 29802 HGNC:12710 ENSG00000128218 V-set pre-B cell surrogate light chain 3 VPREB3 pre-B lymphocyte 3 8HS20 Yes No Comparative Toxicogenomics Database:29802, Ensembl:ENSG00000128218, GenAtlas:VPREB3, GeneCard:VPREB3, HGNC:HGNC:12710, HumanCyc Gene:HS05162, ModBase:Q9UKI3, NCBI Gene:29802, OMIM:605017, RefSeq DNA:NT_011520, RefSeq Protein:NP_037510, RefSeq RNA:NM_013378, UCSC Genome Browser:NM_013378, UniProtKB:Q9UKI3 No chr22 24094930 24096630 23752743 23754443 +PA37902 55823 HGNC:14583 ENSG00000160695 VPS11 core subunit of CORVET and HOPS complexes VPS11 """VPS11, CORVET/HOPS core subunit"", ""vacuolar protein sorting 11 homolog (S. cerevisiae)""" PEP5, RNF108 Yes No Comparative Toxicogenomics Database:55823, Ensembl:ENSG00000160695, GenAtlas:VPS11, GeneCard:VPS11, HGNC:HGNC:14583, HumanCyc Gene:HS08522, ModBase:Q9H270, NCBI Gene:55823, OMIM:608549, RefSeq DNA:NT_033899, RefSeq Protein:NP_068375, RefSeq RNA:NM_021729, UCSC Genome Browser:NM_021729, UniProtKB:Q9H270 No chr11 118938493 118952688 119067752 119081978 +PA26444 23230 HGNC:1908 ENSG00000197969 vacuolar protein sorting 13 homolog A VPS13A bridge-like lipid transfer protein family member 5A, chorein, vacuolar protein sorting 13 homolog A (S. cerevisiae) BLTP5A, CHAC, KIAA0986 Yes No Comparative Toxicogenomics Database:23230, Ensembl:ENSG00000197969, GenAtlas:VPS13A, GeneCard:VPS13A, HGNC:HGNC:1908, ModBase:Q9H995, NCBI Gene:23230, OMIM:200150, OMIM:605978, RefSeq DNA:NG_008931, RefSeq DNA:NT_008470, RefSeq Protein:NP_001018047, RefSeq Protein:NP_001018048, RefSeq Protein:NP_056001, RefSeq Protein:NP_150648, RefSeq RNA:NM_001018037, RefSeq RNA:NM_001018038, RefSeq RNA:NM_015186, RefSeq RNA:NM_033305, UCSC Genome Browser:NM_015186, UniProtKB:Q96RL7 No chr9 79792269 80032399 77177353 77421537 +PA26699 157680 HGNC:2183 ENSG00000132549 vacuolar protein sorting 13 homolog B VPS13B bridge-like lipid transfer protein family member 5B, vacuolar protein sorting 13 homolog B (yeast) BLTP5B, CHS1, COH1 Yes No Comparative Toxicogenomics Database:157680, Ensembl:ENSG00000132549, GenAtlas:VPS13B, GeneCard:VPS13B, HGNC:HGNC:2183, HumanCyc Gene:HS14620, ModBase:Q9NWV1, NCBI Gene:157680, OMIM:216550, OMIM:607817, RefSeq DNA:NG_007098, RefSeq DNA:NT_008046, RefSeq Protein:NP_056058, RefSeq Protein:NP_060360, RefSeq Protein:NP_689777, RefSeq Protein:NP_858047, RefSeq RNA:NM_015243, RefSeq RNA:NM_017890, RefSeq RNA:NM_152564, RefSeq RNA:NM_181661, UCSC Genome Browser:NM_015243, UniProtKB:Q7Z7G8 No chr8 100025299 100890447 99007014 99877586 +PA134990089 54832 HGNC:23594 ENSG00000129003 vacuolar protein sorting 13 homolog C VPS13C bridge-like lipid transfer protein family member 5C, vacuolar protein sorting 13 homolog C (S. cerevisiae) BLTP5C, FLJ10381, FLJ20136, KIAA1421, PARK23 Yes No Ensembl:ENSG00000129003, GeneCard:VPS13C, HGNC:HGNC:23594, HumanCyc Gene:HS13289, ModBase:Q709C8, NCBI Gene:54832, OMIM:608879, RefSeq DNA:NT_010194, RefSeq Protein:NP_001018098, RefSeq Protein:NP_060154, RefSeq Protein:NP_060550, RefSeq Protein:NP_065872, RefSeq RNA:NM_001018088, RefSeq RNA:NM_017684, RefSeq RNA:NM_018080, RefSeq RNA:NM_020821, UniProtKB:Q709C8 No chr15 62144588 62352664 61852389 62060465 +PA134970144 55187 HGNC:23595 ENSG00000048707 vacuolar protein sorting 13 homolog D VPS13D bridge-like lipid transfer protein family member 5D, vacuolar protein sorting 13 homolog D (S. cerevisiae) BLTP5D, FLJ10619, KIAA0453 Yes Yes Ensembl:ENSG00000048707, GeneCard:VPS13D, HGNC:HGNC:23595, HumanCyc Gene:HS12114, ModBase:Q9UIM0, NCBI Gene:55187, OMIM:608877, RefSeq DNA:NT_021937, RefSeq Protein:NP_056193, RefSeq Protein:NP_060626, RefSeq RNA:NM_015378, RefSeq RNA:NM_018156, UniProtKB:Q5THJ4 No chr1 12290101 12572099 12230039 12512047 +PA37903 64601 HGNC:14584 ENSG00000215305 VPS16 core subunit of CORVET and HOPS complexes VPS16 """VPS16, CORVET/HOPS core subunit"", ""vacuolar protein sorting 16 homolog (S. cerevisiae)""" Yes No Comparative Toxicogenomics Database:64601, Ensembl:ENSG00000215305, GenAtlas:VPS16, GeneCard:VPS16, HGNC:HGNC:14584, ModBase:Q9H269, NCBI Gene:64601, OMIM:608550, RefSeq DNA:NT_011387, RefSeq Protein:NP_072097, RefSeq Protein:NP_536338, RefSeq Protein:NP_536339, RefSeq RNA:NM_022575, RefSeq RNA:NM_080413, RefSeq RNA:NM_080414, UCSC Genome Browser:NM_022575, UniProtKB:Q9H269 No chr20 2821373 2847378 2840697 2866732 +PA38069 57617 HGNC:15972 ENSG00000104142 VPS18 core subunit of CORVET and HOPS complexes VPS18 """VPS18, CORVET/HOPS core subunit"", ""vacuolar protein sorting 18 homolog (S. cerevisiae)""" KIAA1475, PEP3 Yes No Comparative Toxicogenomics Database:57617, Ensembl:ENSG00000104142, GenAtlas:VPS18, GeneCard:VPS18, HGNC:HGNC:15972, HumanCyc Gene:HS02547, ModBase:Q9P253, NCBI Gene:57617, OMIM:608551, RefSeq DNA:NT_010194, RefSeq Protein:NP_065908, RefSeq RNA:NM_020857, UCSC Genome Browser:NM_080432, UniProtKB:Q9P253 No chr15 41186628 41196173 40894410 40903975 +PA142670614 84313 HGNC:28122 ENSG00000131475 vacuolar protein sorting 25 homolog VPS25 vacuolar protein sorting 25 homolog (S. cerevisiae) DERP9, EAP20, MGC10540 Yes No Comparative Toxicogenomics Database:84313, Ensembl:ENSG00000131475, GeneCard:VPS25, HGNC:HGNC:28122, HumanCyc Gene:HS13383, ModBase:Q9BRG1, NCBI Gene:84313, OMIM:610907, RefSeq DNA:NT_010783, RefSeq Protein:NP_115729, RefSeq RNA:NM_032353, UniProtKB:Q9BRG1 No chr17 40925454 40931618 42773436 42779600 +PA37326 9559 HGNC:12711 ENSG00000122958 VPS26 retromer complex component A VPS26A """VPS26, retromer complex component A"", ""vacuolar protein sorting 26 homolog A (S. pombe)""" Hbeta58, PEP8A, VPS26 Yes No Ensembl:ENSG00000122958, GenAtlas:VPS26A, GeneCard:VPS26A, HGNC:HGNC:12711, HumanCyc Gene:HS04616, ModBase:O75436, NCBI Gene:9559, OMIM:605506, RefSeq DNA:NT_030059, RefSeq Protein:NP_001030337, RefSeq Protein:NP_004887, RefSeq RNA:NM_001035260, RefSeq RNA:NM_004896, UCSC Genome Browser:NM_004896, UniProtKB:A8MZ56, UniProtKB:O75436 No chr10 70883908 70932617 69124153 69174416 +PA128394747 112936 HGNC:28119 ENSG00000151502 VPS26 retromer complex component B VPS26B """VPS26, retromer complex component B"", ""vacuolar protein sorting 26 homolog B (S. pombe)""" MGC10485, Pep8b Yes No Ensembl:ENSG00000151502, GeneCard:VPS26B, HGNC:HGNC:28119, HumanCyc Gene:HS07743, ModBase:Q4G0F5, NCBI Gene:112936, OMIM:610027, RefSeq DNA:NT_033899, RefSeq Protein:NP_443107, RefSeq RNA:NM_052875, UCSC Genome Browser:NM_052875, UniProtKB:Q4G0F5 No chr11 134094561 134117686 134224605 134247792 +PA27496 10311 HGNC:3044 ENSG00000157538 VPS26 endosomal protein sorting factor C VPS26C Down syndrome critical region 3, Down syndrome critical region gene 3 DCRA, DSCR3 Yes No Comparative Toxicogenomics Database:10311, Ensembl:ENSG00000157538, GenAtlas:DSCR3, GeneCard:DSCR3, HGNC:HGNC:3044, HumanCyc Gene:HS08218, ModBase:O14972, NCBI Gene:10311, OMIM:605298, RefSeq DNA:NG_009410, RefSeq DNA:NT_011512, RefSeq Protein:NP_006043, RefSeq RNA:NM_006052, UCSC Genome Browser:NM_006052, UniProtKB:O14972 No chr21 38595721 38640425 37223425 37268124 +PA38512 51160 HGNC:18178 ENSG00000160948 VPS28 subunit of ESCRT-I VPS28 """VPS28, ESCRT-I subunit"", ""vacuolar protein sorting 28 homolog (S. cerevisiae)""" CIIA Yes No Comparative Toxicogenomics Database:51160, Ensembl:ENSG00000160948, GenAtlas:VPS28, GeneCard:VPS28, HGNC:HGNC:18178, HumanCyc Gene:HS08553, ModBase:Q9UK41, NCBI Gene:51160, OMIM:611952, RefSeq DNA:NT_037704, RefSeq Protein:NP_057292, RefSeq Protein:NP_898880, RefSeq RNA:NM_016208, RefSeq RNA:NM_183057, UCSC Genome Browser:NM_016208, UniProtKB:Q548N1, UniProtKB:Q86VK0, UniProtKB:Q9UK41 No chr8 145648984 145653946 144423601 144428563 +PA37875 51699 HGNC:14340 ENSG00000111237 VPS29 retromer complex component VPS29 """VPS29, retromer complex component"", ""vacuolar protein sorting 29 homolog (S. cerevisiae)""" DC15, DC7, PEP11 Yes No Comparative Toxicogenomics Database:51699, Ensembl:ENSG00000111237, GenAtlas:VPS29, GeneCard:VPS29, HGNC:HGNC:14340, HumanCyc Gene:HS03384, ModBase:Q9UBQ0, NCBI Gene:51699, OMIM:606932, RefSeq DNA:NT_009775, RefSeq Protein:NP_057310, RefSeq Protein:NP_476528, RefSeq RNA:NM_016226, RefSeq RNA:NM_057180, UCSC Genome Browser:NM_016226, UniProtKB:Q9UBQ0 No chr12 110929330 110939916 110491523 110502140 +PA38306 65082 HGNC:18179 ENSG00000139719 VPS33A core subunit of CORVET and HOPS complexes VPS33A """VPS33A, CORVET/HOPS core subunit"", ""vacuolar protein sorting 33 homolog A (S. cerevisiae)""" Yes No Comparative Toxicogenomics Database:65082, Ensembl:ENSG00000139719, GenAtlas:VPS33A, GeneCard:VPS33A, HGNC:HGNC:18179, ModBase:Q96AX1, NCBI Gene:65082, OMIM:610034, RefSeq DNA:NT_009755, RefSeq Protein:NP_075067, RefSeq RNA:NM_022916, UCSC Genome Browser:NM_022916, UniProtKB:Q96AX1 No chr12 122714111 122751068 122231547 122266521 +PA37327 26276 HGNC:12712 ENSG00000184056 VPS33B late endosome and lysosome associated VPS33B """VPS33B, late endosome and lysosome associated"", ""vacuolar protein sorting 33 homolog B (yeast)""" FLJ14848 Yes No Comparative Toxicogenomics Database:26276, Ensembl:ENSG00000184056, GenAtlas:VPS33B, GeneCard:VPS33B, HGNC:HGNC:12712, ModBase:Q9H267, NCBI Gene:26276, OMIM:208085, OMIM:608552, RefSeq DNA:NG_012162, RefSeq DNA:NT_010274, RefSeq Protein:NP_061138, RefSeq RNA:NM_018668, UCSC Genome Browser:NM_018668, UniProtKB:Q9H267 No chr15 91541774 91565833 90998416 91022621 +PA37783 55737 HGNC:13487 ENSG00000069329 VPS35 retromer complex component VPS35 """VPS35, retromer complex component"", ""vacuolar protein sorting 35 homolog (S. cerevisiae)""" FLJ10752, MEM3, PARK17 Yes No Ensembl:ENSG00000069329, GenAtlas:VPS35, GeneCard:VPS35, HGNC:HGNC:13487, HumanCyc Gene:HS00959, ModBase:Q9NX80, NCBI Gene:55737, OMIM:601501, RefSeq DNA:NT_010498, RefSeq Protein:NP_060676, RefSeq RNA:NM_018206, UCSC Genome Browser:NM_018206, UniProtKB:Q96QK1 No chr16 46693589 46723144 46657979 46689232 +PA162378300 57020 HGNC:24641 ENSG00000103544 VPS35 endosomal protein sorting factor like VPS35L chromosome 16 open reading frame 62 C16orf62, MGC16824 Yes No Ensembl:ENSG00000103544, GeneCard:C16orf62, HGNC:HGNC:24641, HumanCyc Gene:HS12527, ModBase:Q9H0L7, ModBase:Q9H7C8, NCBI Gene:57020, RefSeq DNA:NT_010393, RefSeq Protein:NP_064710, RefSeq RNA:NM_020314, UniProtKB:Q7Z3J2 No chr16 19566737 19712485 19555415 19701163 +PA134990943 51028 HGNC:20312 ENSG00000136100 vacuolar protein sorting 36 homolog VPS36 vacuolar protein sorting 36 homolog (S. cerevisiae) C13orf9, CGI-145, Eap45 Yes No Ensembl:ENSG00000136100, GeneCard:VPS36, HGNC:HGNC:20312, HumanCyc Gene:HS13611, ModBase:Q86VN1, NCBI Gene:51028, OMIM:610903, RefSeq DNA:NT_024524, RefSeq Protein:NP_057159, RefSeq RNA:NM_016075, UniProtKB:Q86VN1 No chr13 52986737 53024798 52412602 52450678 +PA142670615 137492 HGNC:24928 ENSG00000155975 VPS37A subunit of ESCRT-I VPS37A """VPS37A, ESCRT-I subunit"", ""hepatocellular carcinoma related protein 1"", ""vacuolar protein sorting 37 homolog A (S. cerevisiae)""" FLJ32642, HCRP1, PQBP2, SPG53 Yes No Comparative Toxicogenomics Database:137492, Ensembl:ENSG00000155975, GeneCard:VPS37A, HGNC:HGNC:24928, HumanCyc Gene:HS14593, ModBase:Q8NEZ2, NCBI Gene:137492, OMIM:609927, RefSeq DNA:NT_167187, RefSeq Protein:NP_001138624, RefSeq Protein:NP_689628, RefSeq RNA:NM_001145152, RefSeq RNA:NM_152415, UniProtKB:Q8NEZ2 No chr8 17104401 17155533 17246892 17333532 +PA142670616 79720 HGNC:25754 ENSG00000139722 VPS37B subunit of ESCRT-I VPS37B """VPS37B, ESCRT-I subunit"", ""vacuolar protein sorting 37 homolog B (S. cerevisiae)""" FLJ12750 Yes No Comparative Toxicogenomics Database:79720, Ensembl:ENSG00000139722, GeneCard:VPS37B, HGNC:HGNC:25754, HumanCyc Gene:HS13796, ModBase:Q9H9H4, NCBI Gene:79720, OMIM:610037, RefSeq DNA:NT_009755, RefSeq Protein:NP_078943, RefSeq RNA:NM_024667, UniProtKB:Q9H9H4 No chr12 123349875 123380712 122865328 122896165 +PA142670617 55048 HGNC:26097 ENSG00000167987 VPS37C subunit of ESCRT-I VPS37C """VPS37C, ESCRT-I subunit"", ""vacuolar protein sorting 37 homolog C (S. cerevisiae)""" FLJ20847 Yes No Comparative Toxicogenomics Database:55048, Ensembl:ENSG00000167987, GeneCard:VPS37C, HGNC:HGNC:26097, NCBI Gene:55048, OMIM:610038, RefSeq DNA:NT_167190, RefSeq Protein:NP_060436, RefSeq RNA:NM_017966, UniProtKB:A5D8V6 No chr11 60897728 60928916 61130256 61161444 +PA38308 155382 HGNC:18287 ENSG00000176428 VPS37D subunit of ESCRT-I VPS37D """VPS37D, ESCRT-I subunit"", ""vacuolar protein sorting 37 homolog D (S. cerevisiae)""" MGC35352, WBSCR24 Yes No Ensembl:ENSG00000176428, GenAtlas:VPS37D, GeneCard:VPS37D, HGNC:HGNC:18287, HumanCyc Gene:HS16659, ModBase:Q86XT2, NCBI Gene:155382, OMIM:610039, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001071089, RefSeq RNA:NM_001077621, UniProtKB:Q86XT2 No chr7 73082174 73086440 73665346 73672110 +PA134945163 23339 HGNC:20593 ENSG00000166887 VPS39 subunit of HOPS complex VPS39 """VPS39, HOPS complex subunit"", ""vacuolar protein sorting 39 homolog (S. cerevisiae)""" KIAA0770, VAM6 Yes No Ensembl:ENSG00000166887, GeneCard:VPS39, HGNC:HGNC:20593, NCBI Gene:23339, OMIM:612188, RefSeq DNA:NT_010194, RefSeq Protein:NP_056104, RefSeq RNA:NM_015289, UniProtKB:Q96JC1 No chr15 42450899 42500524 42158701 42208331 +PA37328 27072 HGNC:12713 ENSG00000006715 VPS41 subunit of HOPS complex VPS41 """VPS41, HOPS complex subunit"", ""vacuolar protein sorting 41 homolog (S. cerevisiae)""" HVSP41 Yes No Ensembl:ENSG00000006715, GenAtlas:VPS41, GeneCard:VPS41, HGNC:HGNC:12713, HumanCyc Gene:HS00193, ModBase:P49754, NCBI Gene:27072, OMIM:605485, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_055211, RefSeq Protein:NP_542198, RefSeq RNA:NM_014396, RefSeq RNA:NM_080631, UCSC Genome Browser:NM_014396, UniProtKB:P49754 No chr7 38763543 38948800 38722974 38909200 +PA37901 11311 HGNC:14579 ENSG00000136631 vacuolar protein sorting 45 homolog VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) H1, VPS45A, VPS45B, h-vps45 Yes No Comparative Toxicogenomics Database:11311, Ensembl:ENSG00000136631, GenAtlas:VPS45A, GeneCard:VPS45, GeneCard:VPS45A, HGNC:HGNC:14579, HumanCyc Gene:HS06189, NCBI Gene:11311, OMIM:610035, RefSeq DNA:NT_004487, RefSeq Protein:NP_009190, RefSeq RNA:NM_007259, UCSC Genome Browser:NM_007259, UniProtKB:Q9NRW7 No chr1 150039350 150117505 150067293 150145327 +PA38362 27183 HGNC:13488 ENSG00000132612 vacuolar protein sorting 4 homolog A VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae) FLJ22197, SKD1, SKD1A, SKD2, VPS4, VPS4-1 Yes No Comparative Toxicogenomics Database:27183, Ensembl:ENSG00000132612, GenAtlas:VPS4A, GeneCard:VPS4A, HGNC:HGNC:13488, HumanCyc Gene:HS05662, ModBase:Q9UN37, NCBI Gene:27183, OMIM:609982, RefSeq DNA:NT_010498, RefSeq Protein:NP_037377, RefSeq RNA:NM_013245, UCSC Genome Browser:NM_013245, UniProtKB:Q9UN37 No chr16 69345242 69358951 69311384 69325043 +PA35795 9525 HGNC:10895 ENSG00000119541 vacuolar protein sorting 4 homolog B VPS4B vacuolar protein sorting 4 homolog B (S. cerevisiae) SKD1, SKD1B, VPS4-2 Yes No Comparative Toxicogenomics Database:9525, Ensembl:ENSG00000119541, GenAtlas:VPS4B, GeneCard:VPS4B, HGNC:HGNC:10895, HumanCyc Gene:HS04307, ModBase:O75351, NCBI Gene:9525, OMIM:609983, RefSeq DNA:NT_025028, RefSeq Protein:NP_004860, RefSeq RNA:NM_004869, UCSC Genome Browser:NM_004869, UniProtKB:O75351 No chr18 61056423 61089752 63389190 63422519 +PA162381332 55610 HGNC:25956 ENSG00000004766 VPS50 subunit of EARP/GARPII complex VPS50 """VPS50, EARP/GARPII complex subunit"", ""coiled-coil domain containing 132"", ""syndetin""" CCDC132, DKFZp313I2429, FLJ20097, KIAA1861, VPS54L Yes No Ensembl:ENSG00000004766, GeneCard:CCDC132, HGNC:HGNC:25956, HumanCyc Gene:HS11995, ModBase:Q96JG6, NCBI Gene:55610, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_060137, RefSeq Protein:NP_078829, RefSeq RNA:NM_017667, RefSeq RNA:NM_024553, UniProtKB:D1MQ00, UniProtKB:Q96JG6 No chr7 92861653 92990435 93232340 93361123 +PA25485 738 HGNC:1172 ENSG00000149823 VPS51 subunit of GARP complex VPS51 """VPS51, GARP complex subunit"", ""fat-free homolog (zebrafish)"", ""vacuolar protein sorting 51 homolog (S. cerevisiae)""" ANG2, ANG3, C11orf2, C11orf3, FFR Yes No Ensembl:ENSG00000149823, GenAtlas:C11orf2, GeneCard:C11orf2, HGNC:HGNC:1172, HumanCyc Gene:HS07644, ModBase:Q9UID3, NCBI Gene:738, RefSeq DNA:NT_167190, RefSeq Protein:NP_037397, RefSeq RNA:NM_013265, UCSC Genome Browser:NM_013265, UniProtKB:Q9UID3 No chr11 64863587 64879332 65096115 65111860 +PA34926 6293 HGNC:10518 ENSG00000206286, ENSG00000223501, ENSG00000223618, ENSG00000224455, ENSG00000225590, ENSG00000228425, ENSG00000236014 VPS52 subunit of GARP complex VPS52 """VPS52, GARP complex subunit"", ""vacuolar protein sorting 52 homolog (S. cerevisiae)""" ARE1, SACM2L Yes No Ensembl:ENSG00000206286, Ensembl:ENSG00000223501, Ensembl:ENSG00000223618, Ensembl:ENSG00000224455, Ensembl:ENSG00000225590, Ensembl:ENSG00000228425, Ensembl:ENSG00000236014, GeneCard:VPS52, HGNC:HGNC:10518, HumanCyc Gene:HS03577, ModBase:Q8N1B4, NCBI Gene:6293, OMIM:603443, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_072047, RefSeq RNA:NM_022553, UCSC Genome Browser:NM_022553, UniProtKB:Q8N1B4 No chr6 33218049 33239723 33250272 33271965 +PA142670618 55275 HGNC:25608 ENSG00000141252 VPS53 subunit of GARP complex VPS53 """VPS53, GARP complex subunit"", ""hepatocellular carcinoma suppressor 1"", ""vacuolar protein sorting 53 homolog (S. cerevisiae)""" FLJ10979, HCCS1 Yes No Ensembl:ENSG00000141252, GeneCard:VPS53, HGNC:HGNC:25608, HumanCyc Gene:HS13866, ModBase:Q5VIR6, NCBI Gene:55275, RefSeq DNA:NT_010718, RefSeq Protein:NP_001121631, RefSeq Protein:NP_060759, RefSeq RNA:NM_001128159, RefSeq RNA:NM_018289, UniProtKB:B3FH42, UniProtKB:B3KS06, UniProtKB:Q5VIR6 No chr17 411908 618096 508668 714856 +PA134920394 51542 HGNC:18652 ENSG00000143952 VPS54 subunit of GARP complex VPS54 """VPS54, GARP complex subunit"", ""protein phosphatase 1, regulatory subunit 164"", ""vacuolar protein sorting 54 homolog (S. cerevisiae)""" HCC8, PPP1R164 Yes No Comparative Toxicogenomics Database:51542, Ensembl:ENSG00000143952, GeneCard:VPS54, HGNC:HGNC:18652, HumanCyc Gene:HS13994, ModBase:Q9P1Q0, NCBI Gene:51542, RefSeq DNA:NT_022184, RefSeq Protein:NP_001005739, RefSeq Protein:NP_057600, RefSeq RNA:NM_001005739, RefSeq RNA:NM_016516, UniProtKB:Q9P1Q0 No chr2 64119280 64246526 63892149 64019421 +PA36396 6944 HGNC:11644 ENSG00000163159 vacuolar protein sorting 72 homolog VPS72 vacuolar protein sorting 72 homolog (S. cerevisiae) Swc2, TCFL1, YL-1, YL1 Yes No Ensembl:ENSG00000163159, GenAtlas:VPS72, GeneCard:VPS72, HGNC:HGNC:11644, HumanCyc Gene:HS08796, ModBase:Q15906, NCBI Gene:6944, OMIM:600607, RefSeq DNA:NT_004487, RefSeq Protein:NP_005988, RefSeq RNA:NM_005997, UCSC Genome Browser:NM_005997, UniProtKB:Q15906 No chr1 151148776 151162689 151176300 151190213 +PA142671617 23355 HGNC:29122 ENSG00000156931 VPS8 subunit of CORVET complex VPS8 """VPS8, CORVET complex subunit"", ""vacuolar protein sorting 8 homolog (S. cerevisiae)""" FLJ32099, KIAA0804 Yes No Comparative Toxicogenomics Database:23355, Ensembl:ENSG00000156931, GeneCard:VPS8, HGNC:HGNC:29122, NCBI Gene:23355, RefSeq DNA:NT_005612, RefSeq Protein:NP_001009921, RefSeq Protein:NP_056118, RefSeq RNA:NM_001009921, RefSeq RNA:NM_015303, UniProtKB:A8K8Q8, UniProtKB:B3KPR6 No chr3 184529925 184770402 184812137 185052614 +PA25562 9605 HGNC:13526 ENSG00000075399 VPS9 domain containing 1 VPS9D1 ATP-BL, C16orf7 Yes No Ensembl:ENSG00000075399, GenAtlas:C16orf7, GeneCard:C16orf7, HGNC:HGNC:13526, HumanCyc Gene:HS01175, NCBI Gene:9605, RefSeq DNA:NT_010542, RefSeq Protein:NP_004904, RefSeq RNA:NM_004913, UCSC Genome Browser:NM_004913, UniProtKB:A6NI91, UniProtKB:Q9Y2B5 No chr16 89773541 89787398 89707133 89721046 +PA37330 7443 HGNC:12718 ENSG00000100749 VRK serine/threonine kinase 1 VRK1 vaccinia related kinase 1 Yes No Comparative Toxicogenomics Database:7443, Ensembl:ENSG00000100749, GenAtlas:VRK1, GeneCard:VRK1, HGNC:HGNC:12718, HumanCyc Gene:HS02141, ModBase:Q99986, NCBI Gene:7443, OMIM:602168, OMIM:607596, RefSeq DNA:NG_016293, RefSeq DNA:NT_026437, RefSeq Protein:NP_003375, RefSeq RNA:NM_003384, UCSC Genome Browser:NM_003384, UniProtKB:Q99986 No chr14 97263684 97347951 96797309 96881614 +PA37331 7444 HGNC:12719 ENSG00000028116 VRK serine/threonine kinase 2 VRK2 vaccinia related kinase 2 Yes No Comparative Toxicogenomics Database:7444, Ensembl:ENSG00000028116, GenAtlas:VRK2, GeneCard:VRK2, HGNC:HGNC:12719, HumanCyc Gene:HS00461, ModBase:Q8IXI5, NCBI Gene:7444, OMIM:602169, RefSeq DNA:NT_022184, RefSeq Protein:NP_001123952, RefSeq Protein:NP_001123953, RefSeq Protein:NP_001123954, RefSeq Protein:NP_001123955, RefSeq Protein:NP_001129499, RefSeq Protein:NP_006287, RefSeq RNA:NM_001130480, RefSeq RNA:NM_001130481, RefSeq RNA:NM_001130482, RefSeq RNA:NM_001130483, RefSeq RNA:NM_001136027, RefSeq RNA:NM_006296, RefSeq RNA:NR_036441, UCSC Genome Browser:NM_006296, UniProtKB:Q05CR6, UniProtKB:Q86Y07 No chr2 58273777 58387055 57907651 58163991 +PA134923990 51231 HGNC:18996 ENSG00000105053 VRK serine/threonine kinase 3 VRK3 vaccinia related kinase 3 Yes No Comparative Toxicogenomics Database:51231, Ensembl:ENSG00000105053, GeneCard:VRK3, HGNC:HGNC:18996, HumanCyc Gene:HS02672, ModBase:Q8IV63, NCBI Gene:51231, RefSeq DNA:NT_011109, RefSeq Protein:NP_001020949, RefSeq Protein:NP_057524, RefSeq RNA:NM_001025778, RefSeq RNA:NM_016440, UniProtKB:A6NEG5, UniProtKB:Q8IV63 No chr19 50479724 50529274 49976467 50025954 +PA134899928 55237 HGNC:20223 ENSG00000133980 vertebrae development associated VRTN C14orf115, FLJ10811, vertnin Yes No Ensembl:ENSG00000133980, GeneCard:C14orf115, HGNC:HGNC:20223, HumanCyc Gene:HS13502, ModBase:Q9H8Y1, NCBI Gene:55237, RefSeq DNA:NT_026437, RefSeq Protein:NP_060698, RefSeq RNA:NM_018228, UniProtKB:Q9H8Y1 No chr14 74815166 74826711 74303076 74360008 +PA134944198 340547 HGNC:28675 ENSG00000101842 V-set and immunoglobulin domain containing 1 VSIG1 glycoprotein A34 GPA34, MGC44287 Yes No Ensembl:ENSG00000101842, GeneCard:VSIG1, HGNC:HGNC:28675, ModBase:Q86XK7, NCBI Gene:340547, OMIM:300620, RefSeq DNA:NG_016264, RefSeq DNA:NT_011651, RefSeq Protein:NP_001164024, RefSeq Protein:NP_872413, RefSeq RNA:NM_001170553, RefSeq RNA:NM_182607, UniProtKB:C9J4P2, UniProtKB:Q86XK7 No chrX 107288160 107322414 108018886 108079184 +PA165513585 54621 HGNC:26078 ENSG00000176834 V-set and immunoglobulin domain containing 10 VSIG10 Yes No Ensembl:ENSG00000176834, GeneCard:VSIG10, HGNC:HGNC:26078, HumanCyc Gene:HS16732, NCBI Gene:54621, RefSeq DNA:NT_009775, RefSeq Protein:NP_061959, RefSeq RNA:NM_019086, UniProtKB:Q8N0Z9 No chr12 118501398 118541810 118063593 118104402 +PA165394673 147645 HGNC:27111 ENSG00000186806 V-set and immunoglobulin domain containing 10 like VSIG10L Yes No Ensembl:ENSG00000186806, GeneCard:VSIG10L, HGNC:HGNC:27111, NCBI Gene:147645, RefSeq DNA:NT_011109, RefSeq Protein:NP_001157394, RefSeq Protein:XP_001718955, RefSeq Protein:XP_085831, RefSeq Protein:XP_942093, RefSeq RNA:NM_001163922, RefSeq RNA:XM_001718903, RefSeq RNA:XM_085831, RefSeq RNA:XM_937000, UniProtKB:Q86VR7 No chr19 51834795 51845378 51331541 51342124 +PA166181684 338667 HGNC:27879 ENSG00000283703 V-set and immunoglobulin domain containing 10 like 2 VSIG10L2 Yes No Ensembl:ENSG00000283703, HGNC:HGNC:27879, NCBI Gene:338667 No 0 0 0 0 +PA134937463 23584 HGNC:17149 ENSG00000019102 V-set and immunoglobulin domain containing 2 VSIG2 CTH, CTXL Yes No Ensembl:ENSG00000019102, GeneCard:VSIG2, HGNC:HGNC:17149, HumanCyc Gene:HS00393, ModBase:Q96IQ7, NCBI Gene:23584, OMIM:606011, RefSeq DNA:NT_033899, RefSeq Protein:NP_055127, RefSeq RNA:NM_014312, UniProtKB:Q96IQ7 No chr11 124617370 124622109 124747474 124752213 +PA134986421 11326 HGNC:17032 ENSG00000155659 V-set and immunoglobulin domain containing 4 VSIG4 complement receptor of the immunoglobulin superfamily CRIg, Z39IG Yes No Comparative Toxicogenomics Database:11326, Ensembl:ENSG00000155659, GeneCard:VSIG4, HGNC:HGNC:17032, HumanCyc Gene:HS14577, ModBase:Q9Y279, NCBI Gene:11326, OMIM:300353, RefSeq DNA:NG_021306, RefSeq DNA:NT_011669, RefSeq Protein:NP_001093901, RefSeq Protein:NP_001171759, RefSeq Protein:NP_001171760, RefSeq Protein:NP_009199, RefSeq RNA:NM_001100431, RefSeq RNA:NM_001184830, RefSeq RNA:NM_001184831, RefSeq RNA:NM_007268, UniProtKB:C9J1L3, UniProtKB:C9JK20, UniProtKB:Q9Y279 No chrX 65241580 65259967 66021738 66040125 +PA142670610 391123 HGNC:32063 ENSG00000243284 V-set and immunoglobulin domain containing 8 VSIG8 Yes No Ensembl:ENSG00000243284, GeneCard:VSIG8, HGNC:HGNC:32063, ModBase:Q5VU13, NCBI Gene:391123, RefSeq DNA:NT_004487, RefSeq Protein:NP_001013683, RefSeq RNA:NM_001013661, UniProtKB:Q5VU13 No chr1 159824106 159832447 159854316 159862657 +PA142672307 64115 HGNC:30085 ENSG00000107738 V-set immunoregulatory receptor VSIR PDCD1 homolog, V-domain Ig suppressor of T cell activation, chromosome 10 open reading frame 54, stress induced secreted protein 1 B7-H5, B7H5, C10orf54, Dies1, GI24, PD-1H, SISP1, VISTA Yes No Ensembl:ENSG00000107738, GeneCard:C10orf54, HGNC:HGNC:30085, ModBase:Q9H7M9, NCBI Gene:64115, RefSeq DNA:NT_030059, RefSeq Protein:NP_071436, RefSeq RNA:NM_022153, UniProtKB:Q9H7M9 No chr10 73507313 73533337 71747556 71773580 +PA37333 7447 HGNC:12722 ENSG00000163032 visinin like 1 VSNL1 hippocalcin-like protein 3, visinin-like 1 HLP3, HPCAL3, HUVISL1, VILIP, VILIP-1 Yes No Comparative Toxicogenomics Database:7447, Ensembl:ENSG00000163032, GenAtlas:VSNL1, GeneCard:VSNL1, HGNC:HGNC:12722, HumanCyc Gene:HS08775, ModBase:P62760, NCBI Gene:7447, OMIM:600817, RefSeq DNA:NT_015926, RefSeq Protein:NP_003376, RefSeq RNA:NM_003385, UCSC Genome Browser:NM_003385, UniProtKB:P62760 No chr2 17721807 17837706 17540540 17656439 +PA147357166 284415 HGNC:29455 ENSG00000189068 V-set and transmembrane domain containing 1 VSTM1 UNQ3033 Yes No Ensembl:ENSG00000189068, GeneCard:VSTM1, HGNC:HGNC:29455, ModBase:Q6UX27, NCBI Gene:284415, RefSeq DNA:NT_011109, RefSeq Protein:NP_940883, RefSeq RNA:NM_198481, UniProtKB:Q6UX27 No chr19 54544079 54567207 54040825 54063966 +PA162408875 222008 HGNC:28499 ENSG00000170419 V-set and transmembrane domain containing 2A VSTM2A MGC33530, VSTM2 Yes No Ensembl:ENSG00000170419, GeneCard:VSTM2A, HGNC:HGNC:28499, ModBase:Q8TAG5, NCBI Gene:222008, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_872352, RefSeq RNA:NM_182546, UniProtKB:B5MC94 No chr7 54610019 54636948 54542064 54571080 +PA162408890 342865 HGNC:33595 ENSG00000187135 V-set and transmembrane domain containing 2B VSTM2B Yes No Ensembl:ENSG00000187135, GeneCard:VSTM2B, HGNC:HGNC:33595, NCBI Gene:342865, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139811, RefSeq Protein:XP_002343685, RefSeq Protein:XP_002345212, RefSeq Protein:XP_002347988, RefSeq RNA:NM_001146339, RefSeq RNA:XM_002343644, RefSeq RNA:XM_002345171, RefSeq RNA:XM_002347947, UniProtKB:A6NLU5 No chr19 30017491 30055458 29525431 29564555 +PA162408904 128434 HGNC:16096 ENSG00000132821 V-set and transmembrane domain containing 2 like VSTM2L C20orf102, dJ1118M15.2 Yes No Ensembl:ENSG00000132821, GeneCard:VSTM2L, HGNC:HGNC:16096, HumanCyc Gene:HS13446, ModBase:Q96N03, NCBI Gene:128434, RefSeq DNA:NT_011362, RefSeq Protein:NP_542174, RefSeq RNA:NM_080607, UniProtKB:Q96N03 No chr20 36531499 36573752 37903097 37945350 +PA134889917 196740 HGNC:26470 ENSG00000165633 V-set and transmembrane domain containing 4 VSTM4 C10orf72, FLJ31737 Yes No Comparative Toxicogenomics Database:196740, Ensembl:ENSG00000165633, GeneCard:C10orf72, HGNC:HGNC:26470, HumanCyc Gene:HS15347, NCBI Gene:196740, RefSeq DNA:NT_030059, RefSeq Protein:NP_001026916, RefSeq Protein:NP_659421, RefSeq RNA:NM_001031746, RefSeq RNA:NM_144984, UniProtKB:Q8IW00 No chr10 50222333 50323559 49014245 49129118 +PA164716741 387804 HGNC:34443 ENSG00000214376 V-set and transmembrane domain containing 5 VSTM5 C11orf90, LOC387804 Yes No Ensembl:ENSG00000214376, GeneCard:C11orf90, HGNC:HGNC:34443, ModBase:A8MXK1, NCBI Gene:387804, RefSeq DNA:NT_167190, RefSeq Protein:NP_001138343, RefSeq RNA:NM_001144871, UniProtKB:A8MXK1 No chr11 93553735 93583668 93817315 93850653 +PA37334 30813 HGNC:12723 ENSG00000100987 visual system homeobox 1 VSX1 PPCD, PPCD1, PPD Yes No Comparative Toxicogenomics Database:30813, Ensembl:ENSG00000100987, GenAtlas:VSX1, GeneCard:VSX1, HGNC:HGNC:12723, HumanCyc Gene:HS02176, ModBase:Q9NZR4, NCBI Gene:30813, OMIM:122000, OMIM:148300, OMIM:605020, RefSeq DNA:NG_008101, RefSeq DNA:NT_011387, RefSeq Protein:NP_055403, RefSeq Protein:NP_955457, RefSeq RNA:NM_014588, RefSeq RNA:NM_199425, UCSC Genome Browser:NM_014588, UniProtKB:Q9NZR4 No chr20 25051521 25063015 25069940 25082379 +PA26511 338917 HGNC:1975 ENSG00000119614 visual system homeobox 2 VSX2 CHX10, HOX10, RET1 Yes No Comparative Toxicogenomics Database:338917, Ensembl:ENSG00000119614, GenAtlas:CHX10, GeneCard:CHX10, GeneCard:VSX2, HGNC:HGNC:1975, NCBI Gene:338917, OMIM:142993, OMIM:610092, OMIM:610093, RefSeq DNA:NG_013092, RefSeq DNA:NT_026437, RefSeq Protein:NP_878314, RefSeq RNA:NM_182894, UCSC Genome Browser:NM_182894, UniProtKB:P58304 No chr14 74706175 74729441 74239472 74262738 +PA162408932 51534 HGNC:20954 ENSG00000009844 vesicle trafficking 1 VTA1 Vps20-associated 1 homolog (S. cerevisiae), vesicle (multivesicular body) trafficking 1 C6orf55, HSPC228, My012 Yes No Ensembl:ENSG00000009844, GeneCard:VTA1, HGNC:HGNC:20954, HumanCyc Gene:HS12033, ModBase:Q9NP79, NCBI Gene:51534, OMIM:610902, RefSeq DNA:NT_025741, RefSeq Protein:NP_057569, RefSeq RNA:NM_016485, UniProtKB:Q9NP79 No chr6 142468372 142542085 142147162 142220948 +PA142670611 79679 HGNC:28873 ENSG00000134258 V-set domain containing T cell activation inhibitor 1 VTCN1 """B7 family member, H4"", ""B7 superfamily member 1""" B7-H4, B7H4, B7S1, B7X, FLJ22418 Yes No Comparative Toxicogenomics Database:79679, Ensembl:ENSG00000134258, GeneCard:VTCN1, HGNC:HGNC:28873, HumanCyc Gene:HS13516, ModBase:Q7Z7D3, NCBI Gene:79679, OMIM:608162, RefSeq DNA:NT_032977, RefSeq Protein:NP_078902, RefSeq RNA:NM_024626, UniProtKB:Q7Z7D3 No chr1 117686209 117753582 117143587 117210992 +PA134928049 143187 HGNC:17792 ENSG00000151532 vesicle transport through interaction with t-SNAREs 1A VTI1A MVti1, Vti1-rp2, Vti1a Yes Yes Comparative Toxicogenomics Database:143187, Ensembl:ENSG00000151532, GeneCard:VTI1A, HGNC:HGNC:17792, HumanCyc Gene:HS14373, ModBase:Q96AJ9, NCBI Gene:143187, RefSeq DNA:NT_030059, RefSeq Protein:NP_660207, RefSeq RNA:NM_145206, UniProtKB:Q5W0D7, UniProtKB:Q96AJ9 No chr10 114206756 114578503 112446988 112947204 +PA134861090 10490 HGNC:17793 ENSG00000100568 vesicle transport through interaction with t-SNAREs 1B VTI1B VTI2 Yes No Comparative Toxicogenomics Database:10490, Ensembl:ENSG00000100568, GeneCard:VTI1B, HGNC:HGNC:17793, HumanCyc Gene:HS02112, ModBase:Q9UEU0, NCBI Gene:10490, OMIM:603207, RefSeq DNA:NT_026437, RefSeq Protein:NP_006361, RefSeq RNA:NM_006370, UniProtKB:Q9UEU0 No chr14 68113621 68141700 67651149 67674885 +PA37335 7448 HGNC:12724 ENSG00000109072 vitronectin VTN complement S-protein, serum spreading factor, somatomedin B VN Yes No Comparative Toxicogenomics Database:7448, Ensembl:ENSG00000109072, GenAtlas:VTN, GeneCard:VTN, HGNC:HGNC:12724, HumanCyc Gene:HS03194, ModBase:P04004, NCBI Gene:7448, OMIM:193190, RefSeq DNA:NT_010799, RefSeq Protein:NP_000629, RefSeq RNA:NM_000638, UCSC Genome Browser:NM_000638, UniProtKB:P04004 No chr17 26694298 26697373 28367277 28370352 +PA37277 56664 HGNC:12654 ENSG00000199990 vault RNA 1-1 VTRNA1-1 HVG1, VR1, hvg-1, vRNA, vtRNA1-1 Yes No Ensembl:ENSG00000199990, GenAtlas:VAULTRC1, GeneCard:VAULTRC1, GeneCard:VTRNA1-1, HGNC:HGNC:12654, NCBI Gene:56664, OMIM:612695, RefSeq DNA:NT_029289, RefSeq RNA:NR_026703 No chr5 140090861 140090958 140711276 140711373 +PA37278 56663 HGNC:12655 ENSG00000202111 vault RNA 1-2 VTRNA1-2 HVG2, VR2, hvg-2, vtRNA1-2 Yes No Ensembl:ENSG00000202111, GenAtlas:VAULTRC2, GeneCard:VAULTRC2, GeneCard:VTRNA1-2, HGNC:HGNC:12655, NCBI Gene:56663, OMIM:612696, RefSeq DNA:NT_029289, RefSeq RNA:NR_026704 No chr5 140098511 140098598 140718926 140719013 +PA37279 56662 HGNC:12656 ENSG00000202515 vault RNA 1-3 VTRNA1-3 HVG3, VR3, hvg-3, vtRNA1-3 Yes No Ensembl:ENSG00000202515, GenAtlas:VAULTRC3, GeneCard:VAULTRC3, GeneCard:VTRNA1-3, HGNC:HGNC:12656, NCBI Gene:56662, OMIM:612697, RefSeq DNA:NT_029289, RefSeq RNA:NR_026705 No chr5 140105744 140105831 140726159 140726246 +PA164722986 100126299 HGNC:37054 ENSG00000270123 vault RNA 2-1 VTRNA2-1 CBL-3, hsa-mir-886, hvg-5, nc886, vtRNA2 Yes No Ensembl:ENSG00000270123, HGNC:HGNC:37054, NCBI Gene:100126299, RefSeq DNA:NT_034772, RefSeq RNA:NR_030583 No chr5 135416187 135416286 136080491 136080598 +PA142670612 64856 HGNC:30910 ENSG00000179403 von Willebrand factor A domain containing 1 VWA1 FLJ22215, VWA-1, WARP Yes No Comparative Toxicogenomics Database:64856, Ensembl:ENSG00000179403, GeneCard:VWA1, HGNC:HGNC:30910, HumanCyc Gene:HS17277, ModBase:Q6PCB0, NCBI Gene:64856, OMIM:611901, RefSeq DNA:NT_004350, RefSeq Protein:NP_073745, RefSeq Protein:NP_954572, RefSeq RNA:NM_022834, RefSeq RNA:NM_199121, UniProtKB:Q6PCB0 No chr1 1370903 1378262 1435523 1442882 +PA142670613 340706 HGNC:24709 ENSG00000165816 von Willebrand factor A domain containing 2 VWA2 AMACO, CCSP-2, FLJ16213, FLJ45857, NET42 Yes No Ensembl:ENSG00000165816, GeneCard:VWA2, HGNC:HGNC:24709, ModBase:Q5GFL6, NCBI Gene:340706, RefSeq DNA:NT_030059, RefSeq Protein:NP_940898, RefSeq RNA:NM_198496, UniProtKB:Q5GFL6 No chr10 115999013 116054259 114239254 114294500 +PA162408933 146177 HGNC:27088 ENSG00000175267 von Willebrand factor A domain containing 3A VWA3A FLJ40941, FLJ46765 Yes No Ensembl:ENSG00000175267, GeneCard:VWA3A, HGNC:HGNC:27088, NCBI Gene:146177, RefSeq DNA:NT_010393, RefSeq Protein:NP_775886, RefSeq RNA:NM_173615, UniProtKB:A6NCI4 No chr16 22019462 22168287 22091930 22156966 +PA162409004 200403 HGNC:28385 ENSG00000168658 von Willebrand factor A domain containing 3B VWA3B DKFZp686F2227, MGC26733 Yes No Ensembl:ENSG00000168658, GeneCard:VWA3B, HGNC:HGNC:28385, HumanCyc Gene:HS15697, NCBI Gene:200403, RefSeq DNA:NT_022171, RefSeq Protein:NP_659429, RefSeq RNA:NM_144992, UniProtKB:Q502W6 No chr2 98703595 98929410 98087132 98330675 +PA162409005 4013 HGNC:6658 ENSG00000110002 von Willebrand factor A domain containing 5A VWA5A BCSC-1, LOH11CR2A Yes No Ensembl:ENSG00000110002, GeneCard:VWA5A, HGNC:HGNC:6658, HumanCyc Gene:HS03275, NCBI Gene:4013, OMIM:602929, RefSeq DNA:NT_033899, RefSeq Protein:NP_001123614, RefSeq Protein:NP_055437, RefSeq Protein:NP_938057, RefSeq RNA:NM_001130142, RefSeq RNA:NM_014622, RefSeq RNA:NM_198315, UniProtKB:O00534 No chr11 123986111 124017619 124115404 124146912 +PA162409030 127731 HGNC:26538 ENSG00000158816 von Willebrand factor A domain containing 5B1 VWA5B1 FLJ32784 Yes No Ensembl:ENSG00000158816, GeneCard:VWA5B1, HGNC:HGNC:26538, HumanCyc Gene:HS14736, NCBI Gene:127731, RefSeq DNA:NT_004610, RefSeq Protein:NP_001034589, RefSeq RNA:NM_001039500 No chr1 20617412 20681662 20290907 20360442 +PA162409079 90113 HGNC:25144 ENSG00000145198 von Willebrand factor A domain containing 5B2 VWA5B2 DKFZp761K032, LOC90113 Yes No Ensembl:ENSG00000145198, GeneCard:VWA5B2, HGNC:HGNC:25144, ModBase:Q8N398, NCBI Gene:90113, RefSeq DNA:NT_005612, RefSeq Protein:NP_612354, RefSeq RNA:NM_138345, UniProtKB:B9EGN7, UniProtKB:Q9BVH8 No chr3 183948317 183960117 184229593 184242329 +PA25928 80737 HGNC:13939 ENSG00000204396, ENSG00000223757, ENSG00000230048, ENSG00000234433, ENSG00000238203 von Willebrand factor A domain containing 7 VWA7 C6orf27, G7c, NG37 Yes No Ensembl:ENSG00000204396, Ensembl:ENSG00000223757, Ensembl:ENSG00000230048, Ensembl:ENSG00000234433, Ensembl:ENSG00000238203, GenAtlas:C6orf27, GeneCard:C6orf27, HGNC:HGNC:13939, HumanCyc Gene:HS03495, NCBI Gene:80737, OMIM:609693, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167249, RefSeq Protein:NP_079534, RefSeq RNA:NM_025258, UCSC Genome Browser:NM_025258, UniProtKB:Q9Y334 No chr6 31733178 31745108 31764135 31777331 +PA162392941 23078 HGNC:29071 ENSG00000102763 von Willebrand factor A domain containing 8 VWA8 Pex7p-binding protein 2 KIAA0564, P7BP2 Yes No Ensembl:ENSG00000102763, GeneCard:KIAA0564, HGNC:HGNC:29071, ModBase:A3KMH1, NCBI Gene:23078, RefSeq DNA:NT_024524, RefSeq Protein:NP_001009814, RefSeq Protein:NP_055873, RefSeq RNA:NM_001009814, RefSeq RNA:NM_015058, UniProtKB:A3KMH1 No chr13 42140961 42535221 41566825 41961111 +PA147357154 375567 HGNC:30200 ENSG00000188730 von Willebrand factor C domain containing 2 VWC2 brain-specific chordin-like, brorin PSST739, UNQ739 Yes No Ensembl:ENSG00000188730, GeneCard:VWC2, HGNC:HGNC:30200, ModBase:Q2TAL6, NCBI Gene:375567, OMIM:611108, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_940972, RefSeq RNA:NM_198570, UniProtKB:Q2TAL6 No chr7 49813257 49961546 49773661 49923777 +PA165697841 402117 HGNC:37203 ENSG00000174453 von Willebrand factor C domain containing 2 like VWC2L brorin-like, von Willebrand factor C domain containing protein 2-like Yes No Ensembl:ENSG00000174453, GeneCard:VWC2L, HGNC:HGNC:37203, NCBI Gene:402117, RefSeq DNA:NT_005403, RefSeq Protein:NP_001073969, RefSeq RNA:NM_001080500, UniProtKB:B2RUY7, UniProtKB:B7X8X1 No chr2 215276292 215440774 214411737 214575929 +PA143485669 220001 HGNC:26487 ENSG00000167992 von Willebrand factor C and EGF domains VWCE FLJ32009, URG11, VWC1 Yes No Comparative Toxicogenomics Database:220001, Ensembl:ENSG00000167992, GeneCard:VWCE, HGNC:HGNC:26487, HumanCyc Gene:HS09675, ModBase:Q96DN2, NCBI Gene:220001, OMIM:611115, RefSeq DNA:NT_167190, RefSeq Protein:NP_689931, RefSeq RNA:NM_152718, UniProtKB:Q96DN2 No chr11 61025758 61062788 61258286 61295316 +PA164727503 221806 HGNC:21897 ENSG00000146530 von Willebrand factor D and EGF domains VWDE FLJ14712 Yes No Ensembl:ENSG00000146530, GeneCard:VWDE, HGNC:HGNC:21897, ModBase:Q8N2E2, NCBI Gene:221806, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001129396, RefSeq RNA:NM_001135924 No chr7 12370509 12443852 12330883 12404226 +PA37337 7450 HGNC:12726 ENSG00000110799 von Willebrand factor VWF Factor VIII related antigen F8VWF Yes No Comparative Toxicogenomics Database:7450, Ensembl:ENSG00000110799, GenAtlas:VWF, GeneCard:VWF, HGNC:HGNC:12726, HumanCyc Gene:HS03339, ModBase:P04275, NCBI Gene:7450, OMIM:193400, OMIM:277480, RefSeq DNA:NG_009072, RefSeq DNA:NT_009759, RefSeq Protein:NP_000543, RefSeq RNA:NM_000552, UCSC Genome Browser:NM_000552, UniProtKB:P04275 No chr12 6058040 6233836 5948874 6124675 +PA37338 7451 HGNC:12727 ENSG00000241717 von Willebrand factor pseudogene 1 VWFP1 Yes No Ensembl:ENSG00000241717, GenAtlas:VWFP, GeneCard:VWFP1, HGNC:HGNC:12727, NCBI Gene:7451, RefSeq DNA:NG_001212, RefSeq DNA:NT_011519 No chr22 17170925 17185351 16690097 16704461 +PA142672365 254778 HGNC:28498 ENSG00000169085 vexin VXN chromosome 8 open reading frame 46 C8orf46, MGC33510 Yes No Ensembl:ENSG00000169085, GeneCard:C8orf46, HGNC:HGNC:28498, HumanCyc Gene:HS15744, ModBase:Q8TAG6, NCBI Gene:254778, RefSeq DNA:NT_008183, RefSeq Protein:NP_689978, RefSeq RNA:NM_152765, UniProtKB:Q8TAG6 No chr8 67405491 67430759 66493256 66518524 +PA134978936 51322 HGNC:17327 ENSG00000095787 WW domain containing adaptor with coiled-coil WAC BM-016, FLJ31290, MGC10753, PRO1741, Wwp4 Yes No Comparative Toxicogenomics Database:51322, Ensembl:ENSG00000095787, GeneCard:WAC, HGNC:HGNC:17327, HumanCyc Gene:HS12358, ModBase:Q9BTA9, NCBI Gene:51322, RefSeq DNA:NT_008705, RefSeq Protein:NP_057712, RefSeq Protein:NP_567823, RefSeq RNA:NM_016628, RefSeq RNA:NM_100486, RefSeq RNA:NR_024557, UniProtKB:Q9BTA9 No chr10 28821355 28912041 28532426 28623112 +PA134872402 23063 HGNC:23293 ENSG00000062650 WAPL cohesin release factor WAPL friend of EBNA2, wings apart-like homolog (Drosophila) FOE, KIAA0261, WAPAL, WAPL Yes No Ensembl:ENSG00000062650, GeneCard:WAPAL, HGNC:HGNC:23293, ModBase:Q7Z5K2, NCBI Gene:23063, OMIM:610754, RefSeq DNA:NT_030059, RefSeq Protein:NP_055860, RefSeq RNA:NM_015045, UniProtKB:Q7Z5K2 No chr10 88195013 88281541 86435256 86521816 +PA37340 7453 HGNC:12729 tryptophanyl-tRNA synthetase 1 WARS1 """tryptophan tRNA ligase 1, cytoplasmic"", ""tryptophanyl-tRNA synthetase""" IFI53, IFP53, WARS Yes No Comparative Toxicogenomics Database:7453, GenAtlas:WARS, GeneCard:WARS, HGNC:HGNC:12729, HumanCyc Gene:HS06685, ModBase:P23381, NCBI Gene:7453, OMIM:191050, RefSeq DNA:NT_026437, RefSeq Protein:NP_004175, RefSeq Protein:NP_776049, RefSeq Protein:NP_998810, RefSeq Protein:NP_998811, RefSeq RNA:NM_004184, RefSeq RNA:NM_173701, RefSeq RNA:NM_213645, RefSeq RNA:NM_213646, UCSC Genome Browser:NM_004184, UniProtKB:P23381 No chr14 100800125 100842680 100333788 100376343 +PA37341 10352 HGNC:12730 ENSG00000116874 tryptophanyl tRNA synthetase 2, mitochondrial WARS2 tryptophan tRNA ligase 2, mitochondrial TrpRS, mtTrpRS Yes No Ensembl:ENSG00000116874, GenAtlas:WARS2, GeneCard:WARS2, HGNC:HGNC:12730, HumanCyc Gene:HS04065, ModBase:Q9UGM6, NCBI Gene:10352, OMIM:604733, RefSeq DNA:NT_032977, RefSeq Protein:NP_056651, RefSeq Protein:NP_957715, RefSeq RNA:NM_015836, RefSeq RNA:NM_201263, UCSC Genome Browser:NM_015836, UniProtKB:B1ALR1, UniProtKB:Q9UGM6 No chr1 119573839 119683404 119031216 119140701 +PA37342 7454 HGNC:12731 ENSG00000015285 WASP actin nucleation promoting factor WAS Wiskott-Aldrich syndrome, eczema-thrombocytopenia IMD2, THC, WASP, WASPA Yes No Comparative Toxicogenomics Database:7454, Ensembl:ENSG00000015285, GenAtlas:WAS, GeneCard:WAS, HGNC:HGNC:12731, HumanCyc Gene:HS00366, ModBase:P42768, NCBI Gene:7454, OMIM:300299, OMIM:300392, OMIM:301000, OMIM:313900, RefSeq DNA:NG_007877, RefSeq DNA:NT_079573, RefSeq Protein:NP_000368, RefSeq RNA:NM_000377, UCSC Genome Browser:NM_000377, UniProtKB:P42768 No chrX 48542186 48549818 48683753 48691427 +PA37343 8936 HGNC:12732 ENSG00000112290 WASP family member 1 WASF1 """WAS protein family member 1"", ""WAS protein family, member 1""" KIAA0269, SCAR1, WAVE, WAVE1 Yes No Comparative Toxicogenomics Database:8936, Ensembl:ENSG00000112290, GenAtlas:WASF1, GeneCard:WASF1, HGNC:HGNC:12732, HumanCyc Gene:HS03548, ModBase:Q92558, NCBI Gene:8936, OMIM:605035, RefSeq DNA:NT_025741, RefSeq Protein:NP_001020105, RefSeq Protein:NP_001020106, RefSeq Protein:NP_001020107, RefSeq Protein:NP_003922, RefSeq RNA:NM_001024934, RefSeq RNA:NM_001024935, RefSeq RNA:NM_001024936, RefSeq RNA:NM_003931, UCSC Genome Browser:NM_003931, UniProtKB:Q92558 No chr6 110421022 110501219 110099817 110189874 +PA37344 10163 HGNC:12733 ENSG00000158195 WASP family member 2 WASF2 """WAS protein family member 2"", ""WAS protein family, member 2""" SCAR2, WAVE2 Yes No Comparative Toxicogenomics Database:10163, Ensembl:ENSG00000158195, GenAtlas:WASF2, GeneCard:WASF2, HGNC:HGNC:12733, HumanCyc Gene:HS08274, ModBase:Q9Y6W5, NCBI Gene:10163, OMIM:605875, RefSeq DNA:NT_004610, RefSeq Protein:NP_001188333, RefSeq Protein:NP_008921, RefSeq RNA:NM_001201404, RefSeq RNA:NM_006990, UCSC Genome Browser:NM_006990, UniProtKB:Q8NBU0, UniProtKB:Q9Y6W5 No chr1 27730734 27816678 27404226 27490187 +PA37345 10810 HGNC:12734 ENSG00000132970 WASP family member 3 WASF3 """WAS protein family member 3"", ""WAS protein family, member 3""" KIAA0900, SCAR3, WAVE3 Yes No Comparative Toxicogenomics Database:10810, Ensembl:ENSG00000132970, GenAtlas:WASF3, GeneCard:WASF3, HGNC:HGNC:12734, HumanCyc Gene:HS05716, ModBase:Q9UPY6, NCBI Gene:10810, OMIM:605068, RefSeq DNA:NT_024524, RefSeq Protein:NP_006637, RefSeq RNA:NM_006646, UCSC Genome Browser:NM_006646, UniProtKB:Q5T8P4, UniProtKB:Q86VQ2, UniProtKB:Q9UPY6 No chr13 27131840 27263082 26557703 26688945 +PA134989676 387122 HGNC:21665 ENSG00000231402 WAS protein family, member 5, pseudogene WASF5P Em:D84394.5 Yes No Ensembl:ENSG00000231402, GeneCard:WASF5P, HGNC:HGNC:21665, NCBI Gene:387122, RefSeq DNA:NG_002397, RefSeq DNA:NT_007592 No chr6 31255162 31256941 31287501 31289116 +PA142671893 653440 HGNC:31685 ENSG00000182484 WAS protein family homolog 6 pseudogene WASH6P Yes No Ensembl:ENSG00000182484, HGNC:HGNC:31685, NCBI Gene:653440, RefSeq Protein:XP_377073, RefSeq Protein:XP_938146, RefSeq Protein:XP_938148, RefSeq Protein:XP_938152, RefSeq Protein:XP_938153, RefSeq Protein:XP_938155, RefSeq Protein:XP_938158, RefSeq Protein:XP_938162, RefSeq Protein:XP_938166, RefSeq Protein:XP_938173, RefSeq Protein:XP_938183, RefSeq Protein:XP_938187, RefSeq Protein:XP_938192, RefSeq Protein:XP_938197, RefSeq Protein:XP_938200, RefSeq Protein:XP_938208, RefSeq Protein:XP_938214, RefSeq Protein:XP_938221, RefSeq Protein:XP_938225, RefSeq Protein:XP_938229, RefSeq Protein:XP_938233, RefSeq Protein:XP_938237, RefSeq Protein:XP_938242, RefSeq Protein:XP_938246, RefSeq Protein:XP_938250, RefSeq Protein:XP_938254, RefSeq Protein:XP_938257, RefSeq Protein:XP_938264, RefSeq Protein:XP_938270, RefSeq Protein:XP_938274, RefSeq Protein:XP_938278, RefSeq RNA:XM_377073, RefSeq RNA:XM_933053, RefSeq RNA:XM_933055, RefSeq RNA:XM_933059, RefSeq RNA:XM_933060, RefSeq RNA:XM_933062, RefSeq RNA:XM_933065, RefSeq RNA:XM_933069, RefSeq RNA:XM_933073, RefSeq RNA:XM_933080, RefSeq RNA:XM_933090, RefSeq RNA:XM_933094, RefSeq RNA:XM_933099, RefSeq RNA:XM_933104, RefSeq RNA:XM_933107, RefSeq RNA:XM_933115, RefSeq RNA:XM_933121, RefSeq RNA:XM_933128, RefSeq RNA:XM_933132, RefSeq RNA:XM_933136, RefSeq RNA:XM_933140, RefSeq RNA:XM_933144, RefSeq RNA:XM_933149, RefSeq RNA:XM_933153, RefSeq RNA:XM_933157, RefSeq RNA:XM_933161, RefSeq RNA:XM_933164, RefSeq RNA:XM_933171, RefSeq RNA:XM_933177, RefSeq RNA:XM_933181, RefSeq RNA:XM_933185 No chrX 155251323 155255337 156021658 156025672 +PA162409121 100287171 HGNC:24361 ENSG00000181404 WASH complex subunit 1 WASHC1 WAS protein family homolog 1 FAM39E, FLJ00038, WASH1 Yes No Ensembl:ENSG00000181404, GeneCard:WASH1, HGNC:HGNC:24361, NCBI Gene:100287171, RefSeq DNA:NT_008413, RefSeq DNA:NT_011255, RefSeq Protein:NP_878908, RefSeq Protein:XP_002342939, RefSeq Protein:XP_002342940, RefSeq RNA:NM_182905, RefSeq RNA:XM_002342898, RefSeq RNA:XM_002342899, UniProtKB:A8K0Z3 No chr9 14469 29739 14475 30487 +PA134902481 387680 HGNC:23416 ENSG00000099290 WASH complex subunit 2A WASHC2A family with sequence similarity 21, member A FAM21A, FAM21B, FLJ10824, bA56A21.1, bA98I6.1 Yes No Ensembl:ENSG00000099290, GeneCard:FAM21A, HGNC:HGNC:23416, ModBase:Q641Q2, NCBI Gene:387680, RefSeq DNA:NT_030059, RefSeq Protein:NP_001005751, RefSeq RNA:NM_001005751, UniProtKB:Q641Q2, UniProtKB:Q6P0Q7, UniProtKB:Q9NVB8 No chr10 51827610 51893269 50067888 50133509 +PA128394768 253725 HGNC:23414 ENSG00000172661 WASH complex subunit 2C WASHC2C family with sequence similarity 21, member C Em:AC012044.3, FAM21C, KIAA0592 Yes No Ensembl:ENSG00000172661, GeneCard:FAM21C, HGNC:HGNC:23414, NCBI Gene:253725, RefSeq DNA:NT_033985, RefSeq Protein:NP_001162577, RefSeq Protein:NP_001162578, RefSeq Protein:NP_056077, RefSeq RNA:NM_001169106, RefSeq RNA:NM_001169107, RefSeq RNA:NM_015262, UniProtKB:A8K5W5, UniProtKB:B3KMC4 No chr10 46222648 46288412 45727170 45792964 +PA142672169 51019 HGNC:24256 ENSG00000120860 WASH complex subunit 3 WASHC3 coiled-coil domain containing 53 CCDC53, CGI-116 Yes No Comparative Toxicogenomics Database:51019, Ensembl:ENSG00000120860, GeneCard:CCDC53, HGNC:HGNC:24256, HumanCyc Gene:HS13006, ModBase:Q9Y3C0, NCBI Gene:51019, RefSeq DNA:NT_029419, RefSeq Protein:NP_057137, RefSeq RNA:NM_016053, UniProtKB:Q9Y3C0 No chr12 102406717 102455902 102012840 102062124 +PA128394626 23325 HGNC:29174 ENSG00000136051 WASH complex subunit 4 WASHC4 strumpellin and WASH-interacting protein KIAA1033, SWIP Yes No Comparative Toxicogenomics Database:23325, Ensembl:ENSG00000136051, GeneCard:KIAA1033, HGNC:HGNC:29174, NCBI Gene:23325, RefSeq DNA:NT_029419, RefSeq Protein:NP_056090, RefSeq RNA:NM_015275, UniProtKB:Q2M389 No chr12 105501492 105562912 105107714 105169134 +PA142671624 9897 HGNC:28984 ENSG00000164961 WASH complex subunit 5 WASHC5 strumpellin KIAA0196, SPG8 Yes No Comparative Toxicogenomics Database:9897, Ensembl:ENSG00000164961, GeneCard:KIAA0196, HGNC:HGNC:28984, HumanCyc Gene:HS15264, ModBase:Q12768, NCBI Gene:9897, OMIM:603563, OMIM:610657, RefSeq DNA:NG_012636, RefSeq DNA:NT_008046, RefSeq Protein:NP_055661, RefSeq RNA:NM_014846, UniProtKB:Q12768 No chr8 126036502 126104061 125024260 125091819 +PA37346 8976 HGNC:12735 ENSG00000106299 WASP like actin nucleation promoting factor WASL Wiskott-Aldrich syndrome like, Wiskott-Aldrich syndrome-like N-WASP, NWASP, WASPB Yes No Comparative Toxicogenomics Database:8976, Ensembl:ENSG00000106299, GenAtlas:WASL, GeneCard:WASL, HGNC:HGNC:12735, HumanCyc Gene:HS02882, ModBase:O00401, NCBI Gene:8976, OMIM:605056, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_003932, RefSeq RNA:NM_003941, UCSC Genome Browser:NM_003941, UniProtKB:O00401 No chr7 123321981 123389125 123681927 123749071 +PA37348 23559 HGNC:12737 ENSG00000239779 WW domain binding protein 1 WBP1 WBP-1 Yes No Comparative Toxicogenomics Database:23559, Ensembl:ENSG00000239779, GenAtlas:WBP1, GeneCard:WBP1, HGNC:HGNC:12737, ModBase:Q96G27, NCBI Gene:23559, OMIM:606961, RefSeq DNA:NT_022184, RefSeq Protein:NP_036609, RefSeq RNA:NM_012477, UCSC Genome Browser:NM_012477, UniProtKB:Q96G27 No chr2 74684996 74688018 74458400 74460891 +PA38144 51729 HGNC:16461 ENSG00000084463 WW domain binding protein 11 WBP11 """protein phosphatase 1, regulatory subunit 165"", ""splicing factor, PQBP1 and PP1 interacting""" BUG13, NPWBP, PPP1R165, SIPP1 Yes No Comparative Toxicogenomics Database:51729, Ensembl:ENSG00000084463, GenAtlas:WBP11, GeneCard:WBP11, HGNC:HGNC:16461, HumanCyc Gene:HS01471, ModBase:Q9Y2W2, NCBI Gene:51729, RefSeq DNA:NT_009714, RefSeq Protein:NP_057396, RefSeq RNA:NM_016312, UCSC Genome Browser:NM_016312, UniProtKB:Q9Y2W2 No chr12 14937513 14956420 14786478 14803467 +PA128394674 54838 HGNC:23510 ENSG00000166272 WW domain binding protein 1 like WBP1L WW domain binding protein 1-like, outcome predictor in acute leukemia 1 C10orf26, FLJ20154, OPAL1 Yes No Ensembl:ENSG00000166272, GeneCard:C10orf26, HGNC:HGNC:23510, HumanCyc Gene:HS09367, ModBase:Q9NX94, NCBI Gene:54838, OMIM:611129, RefSeq DNA:NT_030059, RefSeq Protein:NP_001077382, RefSeq Protein:NP_060257, RefSeq RNA:NM_001083913, RefSeq RNA:NM_017787, UCSC Genome Browser:NM_017787, UniProtKB:Q9NX94 No chr10 104503727 104576022 102742708 102816267 +PA37349 23558 HGNC:12738 ENSG00000132471 WW domain binding protein 2 WBP2 GRAMD6, WBP-2 Yes No Comparative Toxicogenomics Database:23558, Ensembl:ENSG00000132471, GenAtlas:WBP2, GeneCard:WBP2, HGNC:HGNC:12738, HumanCyc Gene:HS05641, ModBase:Q969T9, NCBI Gene:23558, OMIM:606962, RefSeq DNA:NT_010783, RefSeq Protein:NP_036610, RefSeq RNA:NM_012478, UCSC Genome Browser:NM_012478, UniProtKB:Q969T9 No chr17 73841780 73851501 75845699 75855420 +PA145147710 164684 HGNC:28389 ENSG00000183066 WBP2 N-terminal like WBP2NL postacrosomal sheath WW domain-binding protein FLJ26145, GRAMD7, MGC26816, PAWP Yes Yes Ensembl:ENSG00000183066, GeneCard:WBP2NL, HGNC:HGNC:28389, ModBase:Q6ICG8, NCBI Gene:164684, OMIM:610981, RefSeq DNA:NT_011520, RefSeq Protein:NP_689826, RefSeq RNA:NM_152613, UniProtKB:Q6ICG8 No chr22 42391607 42428935 41998725 42058456 +PA37350 11193 HGNC:12739 ENSG00000120688 WW domain binding protein 4 WBP4 formin binding protein 21 FBP21, MGC117310 Yes No Comparative Toxicogenomics Database:11193, Ensembl:ENSG00000120688, GenAtlas:WBP4, GeneCard:WBP4, HGNC:HGNC:12739, HumanCyc Gene:HS04419, ModBase:O75554, NCBI Gene:11193, OMIM:604981, RefSeq DNA:NT_024524, RefSeq Protein:NP_009118, RefSeq RNA:NM_007187, UCSC Genome Browser:NM_007187, UniProtKB:O75554 No chr13 41634973 41658142 41061561 41084006 +PA37354 7459 HGNC:12746 Williams-Beuren syndrome chromosome region 2 WBSCR2 WSCR2 Yes No GenAtlas:WBSCR2, GeneCard:WBSCR2, HGNC:HGNC:12746, NCBI Gene:7459 No chr7 +PA147358716 80304 HGNC:26157 ENSG00000163026 WD repeat and coiled coil containing WDCP chromosome 2 open reading frame 44 C2orf44, FLJ21945, MMAP Yes No Ensembl:ENSG00000163026, GeneCard:C2orf44, HGNC:HGNC:26157, HumanCyc Gene:HS15008, ModBase:Q9H6R7, NCBI Gene:80304, RefSeq DNA:NT_022184, RefSeq Protein:NP_001135791, RefSeq Protein:NP_079479, RefSeq RNA:NM_001142319, RefSeq RNA:NM_025203, UniProtKB:Q9H6R7 No chr2 24252206 24270296 24029336 24047426 +PA134929936 57590 HGNC:20451 ENSG00000085449 WD repeat and FYVE domain containing 1 WDFY1 FENS-1, KIAA1435, WDF1, ZFYVE17 Yes No Comparative Toxicogenomics Database:57590, Ensembl:ENSG00000085449, GeneCard:WDFY1, HGNC:HGNC:20451, HumanCyc Gene:HS01495, ModBase:Q8IWB7, NCBI Gene:57590, RefSeq DNA:NT_005403, RefSeq Protein:NP_065881, RefSeq RNA:NM_020830, UniProtKB:Q53S17, UniProtKB:Q8IWB7, UniProtKB:Q9H8N9 No chr2 224740065 224810104 223875343 223945387 +PA134870231 115825 HGNC:20482 ENSG00000139668 WD repeat and FYVE domain containing 2 WDFY2 ZFYVE22 Yes No Ensembl:ENSG00000139668, GeneCard:WDFY2, HGNC:HGNC:20482, HumanCyc Gene:HS06647, ModBase:Q96P53, NCBI Gene:115825, OMIM:610418, RefSeq DNA:NT_024524, RefSeq Protein:NP_443182, RefSeq RNA:NM_052950, UniProtKB:Q96P53 No chr13 52158484 52340935 51584194 51766799 +PA134903706 23001 HGNC:20751 ENSG00000163625 WD repeat and FYVE domain containing 3 WDFY3 ALFY, KIAA0993, ZFYVE25 Yes No Comparative Toxicogenomics Database:23001, Ensembl:ENSG00000163625, GeneCard:WDFY3, HGNC:HGNC:20751, HumanCyc Gene:HS08896, ModBase:Q9Y2J7, NCBI Gene:23001, RefSeq DNA:NT_016354, RefSeq Protein:NP_055806, RefSeq Protein:NP_848698, RefSeq Protein:NP_848700, RefSeq RNA:NM_014991, RefSeq RNA:NM_178583, RefSeq RNA:NM_178585, UniProtKB:Q8IZQ1 No chr4 85590690 85887544 84669537 84966391 +PA165664370 404201 HGNC:21603 ENSG00000180769 WDFY3 antisense RNA 2 WDFY3-AS2 FBI4 Yes No Ensembl:ENSG00000180769, GeneCard:NCRNA00247, HGNC:HGNC:21603, NCBI Gene:404201, RefSeq DNA:NT_016354, RefSeq RNA:NM_205857, RefSeq RNA:NR_015359, RefSeq RNA:XR_042111, RefSeq RNA:XR_042112, RefSeq RNA:XR_042113 No chr4 85887895 85929896 84966818 85007015 +PA134967634 57705 HGNC:29323 ENSG00000128815 WDFY family member 4 WDFY4 C10orf64, Em:AC060234.3, FLJ45748, KIAA1607 Yes No Ensembl:ENSG00000128815, GeneCard:WDFY4, HGNC:HGNC:29323, NCBI Gene:57705, OMIM:613316, RefSeq DNA:NT_030059, RefSeq Protein:NP_065996, RefSeq RNA:NM_020945, UniProtKB:Q6ZS81 No chr10 49892907 50191001 48684815 48982956 +PA134988782 11169 HGNC:23170 ENSG00000198554 WD repeat and HMG-box DNA binding protein 1 WDHD1 CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae) AND-1, CHTF4, CTF4 Yes No Comparative Toxicogenomics Database:11169, Ensembl:ENSG00000198554, GeneCard:WDHD1, HGNC:HGNC:23170, ModBase:O75717, NCBI Gene:11169, OMIM:608126, RefSeq DNA:NT_026437, RefSeq Protein:NP_001008397, RefSeq Protein:NP_009017, RefSeq RNA:NM_001008396, RefSeq RNA:NM_007086, UniProtKB:A8MRA5, UniProtKB:B3KMD2, UniProtKB:B3KMD9, UniProtKB:O75717 No chr14 55405656 55493819 54938938 55027105 +PA164717186 51057 HGNC:28027 ENSG00000143951 WD repeat containing planar cell polarity effector WDPCP ciliogenesis and planar polarity effector 5, ciliogenesis and planar polarity effector complex subunit 5 BBS15, C2orf86, CPLANE5, fritz, hFrtz Yes No Ensembl:ENSG00000143951, GeneCard:C2orf86, HGNC:HGNC:28027, HumanCyc Gene:HS13993, NCBI Gene:51057, RefSeq DNA:NT_022184, RefSeq Protein:NP_001036157, RefSeq Protein:NP_056994, RefSeq RNA:NM_001042692, RefSeq RNA:NM_015910, UniProtKB:O95876 No chr2 63348518 63815867 63120755 63840825 +PA37358 9948 HGNC:12754 ENSG00000071127 WD repeat domain 1 WDR1 actin-interacting protein 1 AIP1 Yes No Comparative Toxicogenomics Database:9948, Ensembl:ENSG00000071127, GenAtlas:WDR1, GeneCard:WDR1, HGNC:HGNC:12754, HumanCyc Gene:HS01026, ModBase:O75083, NCBI Gene:9948, OMIM:604734, RefSeq DNA:NT_006316, RefSeq Protein:NP_005103, RefSeq Protein:NP_059830, RefSeq RNA:NM_005112, RefSeq RNA:NM_017491, UCSC Genome Browser:NM_005112, UniProtKB:O75083 No chr4 10075963 10118612 10074339 10116983 +PA37818 55717 HGNC:13831 ENSG00000120008 WD repeat domain 11 WDR11 sensitization to ricin complex subunit 1 BRWD2, DR11, FLJ10506, HH14, KIAA1351, SRI1, WDR15 Yes No Comparative Toxicogenomics Database:55717, Ensembl:ENSG00000120008, GenAtlas:BRWD2, GeneCard:BRWD2, GeneCard:WDR11, HGNC:HGNC:13831, HumanCyc Gene:HS04359, ModBase:Q9BZH6, NCBI Gene:55717, OMIM:137800, OMIM:606417, RefSeq DNA:NG_023290, RefSeq DNA:NT_030059, RefSeq Protein:NP_060587, RefSeq RNA:NM_018117, UCSC Genome Browser:NM_018117, UniProtKB:Q9BZH6 No chr10 122610687 122669038 120851175 120909526 +PA37841 55759 HGNC:14098 ENSG00000138442 WD repeat domain 12 WDR12 FLJ10881, YTM1 Yes No Comparative Toxicogenomics Database:55759, Ensembl:ENSG00000138442, GenAtlas:WDR12, GeneCard:WDR12, HGNC:HGNC:14098, HumanCyc Gene:HS13727, ModBase:Q9GZL7, NCBI Gene:55759, RefSeq DNA:NT_005403, RefSeq Protein:NP_060726, RefSeq RNA:NM_018256, UCSC Genome Browser:NM_018256, UniProtKB:Q53T99, UniProtKB:Q9GZL7 No chr2 203745323 203776949 202876958 202912226 +PA37876 64743 HGNC:14352 ENSG00000101940 WD repeat domain 13 WDR13 Yes No Ensembl:ENSG00000101940, GenAtlas:WDR13, GeneCard:WDR13, HGNC:HGNC:14352, HumanCyc Gene:HS12472, ModBase:Q9H1Z4, NCBI Gene:64743, OMIM:300512, RefSeq DNA:NG_015879, RefSeq DNA:NT_079573, RefSeq Protein:NP_001159898, RefSeq Protein:NP_060353, RefSeq RNA:NM_001166426, RefSeq RNA:NM_017883, RefSeq RNA:NR_029427, UCSC Genome Browser:NM_017883, UniProtKB:Q06DX0, UniProtKB:Q9H1Z4 No chrX 48455880 48463582 48597492 48605194 +PA38181 116966 HGNC:16661 ENSG00000150627 WD repeat domain 17 WDR17 Yes No Ensembl:ENSG00000150627, GenAtlas:WDR17, GeneCard:WDR17, HGNC:HGNC:16661, ModBase:Q8IZU2, NCBI Gene:116966, OMIM:609005, RefSeq DNA:NT_016354, RefSeq Protein:NP_733828, RefSeq Protein:NP_851782, RefSeq RNA:NM_170710, RefSeq RNA:NM_181265, UCSC Genome Browser:NM_170710, UniProtKB:Q8IZU2 No chr4 176986985 177103979 176065834 176182828 +PA38269 57418 HGNC:17956 ENSG00000065268 WD repeat domain 18 WDR18 Involved in Processing ITS2 3 homolog (S. cerevisiae) Ipi3 Yes No Comparative Toxicogenomics Database:57418, Ensembl:ENSG00000065268, GenAtlas:WDR18, GeneCard:WDR18, HGNC:HGNC:17956, HumanCyc Gene:HS12169, ModBase:Q9BV38, NCBI Gene:57418, RefSeq DNA:NT_011255, RefSeq Protein:NP_077005, RefSeq RNA:NM_024100, UCSC Genome Browser:NM_024100, UniProtKB:Q9BV38 No chr19 984328 994569 982980 994570 +PA38317 57728 HGNC:18340 ENSG00000157796 WD repeat domain 19 WDR19 intraflagellar transport 144 homolog (Chlamydomonas) CFAP66, DYF-2, FAP66, FLJ23127, IFT144, KIAA1638, NPHP13, ORF26, Oseg6, Pwdmp Yes No Comparative Toxicogenomics Database:57728, Ensembl:ENSG00000157796, GenAtlas:WDR19, GeneCard:WDR19, HGNC:HGNC:18340, HumanCyc Gene:HS14677, ModBase:Q8NEZ3, NCBI Gene:57728, OMIM:608151, RefSeq DNA:NT_016297, RefSeq Protein:NP_079408, RefSeq RNA:NM_025132, UniProtKB:Q8NEZ3 No chr4 39184024 39287430 39182404 39285810 +PA134936678 91833 HGNC:19667 ENSG00000140153 WD repeat domain 20 WDR20 Bun107, DMR, FLJ33659, MGC33177 Yes No Ensembl:ENSG00000140153, GeneCard:WDR20, HGNC:HGNC:19667, HumanCyc Gene:HS13818, ModBase:Q8TBZ3, NCBI Gene:91833, RefSeq DNA:NT_026437, RefSeq Protein:NP_001229343, RefSeq Protein:NP_001229344, RefSeq Protein:NP_001229345, RefSeq Protein:NP_001229346, RefSeq Protein:NP_001229347, RefSeq Protein:NP_653175, RefSeq Protein:NP_851808, RefSeq Protein:NP_851819, RefSeq Protein:NP_851825, RefSeq RNA:NM_001242414, RefSeq RNA:NM_001242415, RefSeq RNA:NM_001242416, RefSeq RNA:NM_001242417, RefSeq RNA:NM_001242418, RefSeq RNA:NM_144574, RefSeq RNA:NM_181291, RefSeq RNA:NM_181302, RefSeq RNA:NM_181308, RefSeq RNA:NR_038354, UniProtKB:B3KR43, UniProtKB:Q86TU2, UniProtKB:Q8NCN7, UniProtKB:Q8TBZ3 No chr14 102606189 102690010 102139518 102224686 +PA134918496 84219 HGNC:20852 ENSG00000127580 WD repeat domain 24 WDR24 C16orf21, DKFZp434F054, JFP7 Yes Yes Ensembl:ENSG00000127580, GeneCard:WDR24, HGNC:HGNC:20852, HumanCyc Gene:HS05116, ModBase:Q96S15, NCBI Gene:84219, RefSeq DNA:NT_010393, RefSeq Protein:NP_115635, RefSeq RNA:NM_032259, UniProtKB:Q96S15 No chr16 734622 740608 684622 690661 +PA142670607 79446 HGNC:21064 ENSG00000176473 WD repeat domain 25 WDR25 C14orf67, MGC4645 Yes No Comparative Toxicogenomics Database:79446, Ensembl:ENSG00000176473, GeneCard:WDR25, HGNC:HGNC:21064, HumanCyc Gene:HS16672, NCBI Gene:79446, RefSeq DNA:NT_026437, RefSeq Protein:NP_001154948, RefSeq Protein:NP_078791, RefSeq RNA:NM_001161476, RefSeq RNA:NM_024515, UniProtKB:Q64LD2 No chr14 100842755 100996640 100376410 100530303 +PA134907873 80232 HGNC:21208 ENSG00000162923 WD repeat domain 26 WDR26 GID complex subunit 7 homolog (S. cerevisiae) FLJ21016, GID7 Yes No Comparative Toxicogenomics Database:80232, Ensembl:ENSG00000162923, GeneCard:WDR26, HGNC:HGNC:21208, HumanCyc Gene:HS14988, NCBI Gene:80232, RefSeq DNA:NT_167186, RefSeq Protein:NP_001108585, RefSeq Protein:NP_079436, RefSeq RNA:NM_001115113, RefSeq RNA:NM_025160, UniProtKB:Q9H7D7 No chr1 224572845 224622001 224385143 224434299 +PA134875091 253769 HGNC:21248 ENSG00000184465 WD repeat domain 27 WDR27 MGC43690 Yes No Ensembl:ENSG00000184465, GeneCard:WDR27, HGNC:HGNC:21248, NCBI Gene:253769, RefSeq DNA:NT_025741, RefSeq Protein:NP_001189479, RefSeq Protein:NP_872358, RefSeq RNA:NM_001202550, RefSeq RNA:NM_182552, UniProtKB:A2RRH5 No chr6 169857303 170102159 169426420 169702071 +PA37359 10885 HGNC:12755 ENSG00000065183 WD repeat domain 3 WDR3 DIP2, FLJ12796, UTP12 Yes No Comparative Toxicogenomics Database:10885, Ensembl:ENSG00000065183, GenAtlas:WDR3, GeneCard:WDR3, HGNC:HGNC:12755, HumanCyc Gene:HS00833, ModBase:Q9UNX4, NCBI Gene:10885, OMIM:604737, RefSeq DNA:NT_032977, RefSeq Protein:NP_006775, RefSeq RNA:NM_006784, UCSC Genome Browser:NM_006784, UniProtKB:Q5TDG3, UniProtKB:Q9UNX4 No chr1 118472372 118503049 117929749 117960426 +PA134959062 114987 HGNC:21421 ENSG00000148225 WD repeat domain 31 WDR31 similar to spermatid WD-repeat protein FLJ35921 Yes No Comparative Toxicogenomics Database:114987, Ensembl:ENSG00000148225, GeneCard:WDR31, HGNC:HGNC:21421, HumanCyc Gene:HS07502, ModBase:Q8NA23, NCBI Gene:114987, RefSeq DNA:NT_008470, RefSeq Protein:NP_001006616, RefSeq Protein:NP_001012361, RefSeq Protein:NP_660284, RefSeq RNA:NM_001006615, RefSeq RNA:NM_001012361, RefSeq RNA:NM_145241, UniProtKB:Q8NA23, UniProtKB:Q8NC90 No chr9 116075502 116102620 113313222 113340340 +PA134943440 55339 HGNC:25651 ENSG00000136709 WD repeat domain 33 WDR33 FLJ11294, NET14, WDC146 Yes No Ensembl:ENSG00000136709, GeneCard:WDR33, HGNC:HGNC:25651, HumanCyc Gene:HS06201, ModBase:Q9C0J8, NCBI Gene:55339, RefSeq DNA:NT_022135, RefSeq Protein:NP_001006623, RefSeq Protein:NP_001006624, RefSeq Protein:NP_060853, RefSeq RNA:NM_001006622, RefSeq RNA:NM_001006623, RefSeq RNA:NM_018383, UniProtKB:Q05DP8, UniProtKB:Q6NUQ0, UniProtKB:Q9C0J8, UniProtKB:Q9NUL1 No chr2 128461808 128568761 127704234 127811187 +PA134928987 57539 HGNC:29250 ENSG00000118965 WD repeat domain 35 WDR35 CFAP118, FAP118, IFT121, IFTA1, KIAA1336, MGC33196 Yes No Ensembl:ENSG00000118965, GeneCard:WDR35, HGNC:HGNC:29250, HumanCyc Gene:HS12926, ModBase:Q9P2L0, NCBI Gene:57539, RefSeq DNA:NG_021212, RefSeq DNA:NT_015926, RefSeq Protein:NP_001006658, RefSeq Protein:NP_065830, RefSeq RNA:NM_001006657, RefSeq RNA:NM_020779, UniProtKB:Q4ZG01, UniProtKB:Q9P2L0 No chr2 20110024 20189884 19910260 19990123 +PA134933637 134430 HGNC:30696 ENSG00000134987 WD repeat domain 36 WDR36 GLC1G, TA-WDRP, UTP21 Yes No Comparative Toxicogenomics Database:134430, Ensembl:ENSG00000134987, GeneCard:WDR36, HGNC:HGNC:30696, HumanCyc Gene:HS05936, ModBase:Q8NI36, NCBI Gene:134430, OMIM:137760, OMIM:609669, OMIM:609887, RefSeq DNA:NG_008979, RefSeq DNA:NT_034772, RefSeq Protein:NP_644810, RefSeq RNA:NM_139281, UniProtKB:Q68E02, UniProtKB:Q8NI36 No chr5 110427870 110466200 111092172 111130502 +PA134922218 22884 HGNC:31406 ENSG00000047056 WD repeat domain 37 WDR37 KIAA0982 Yes No Ensembl:ENSG00000047056, GeneCard:WDR37, HGNC:HGNC:31406, HumanCyc Gene:HS12102, ModBase:Q9Y2I8, NCBI Gene:22884, RefSeq DNA:NT_008705, RefSeq Protein:NP_054742, RefSeq RNA:NM_014023, UniProtKB:Q9Y2I8 No chr10 1095423 1178237 1056836 1132297 +PA162409138 401551 HGNC:23745 ENSG00000136918 WD repeat domain 38 WDR38 Yes No Ensembl:ENSG00000136918, GeneCard:WDR38, HGNC:HGNC:23745, ModBase:Q5JTN6, NCBI Gene:401551, RefSeq DNA:NT_008470, RefSeq Protein:NP_001038941, RefSeq RNA:NM_001045476, UniProtKB:Q5JTN6 No chr9 127615627 127620170 124853347 124857891 +PA37360 10785 HGNC:12756 ENSG00000160193 WD repeat domain 4 WDR4 TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae) TRM82, TRMT82, Wuho Yes No Ensembl:ENSG00000160193, GenAtlas:WDR4, GeneCard:WDR4, HGNC:HGNC:12756, HumanCyc Gene:HS08458, ModBase:P57081, NCBI Gene:10785, OMIM:605924, RefSeq DNA:NT_011515, RefSeq Protein:NP_061139, RefSeq Protein:NP_387510, RefSeq RNA:NM_018669, RefSeq RNA:NM_033661, UCSC Genome Browser:NM_018669, UniProtKB:P57081 No chr21 44263190 44299699 42843075 42879865 +PA134906058 55255 HGNC:25601 ENSG00000164253 WD repeat domain 41 WDR41 FLJ10904 Yes No Ensembl:ENSG00000164253, GeneCard:WDR41, HGNC:HGNC:25601, HumanCyc Gene:HS15175, ModBase:Q9HAD4, NCBI Gene:55255, RefSeq DNA:NT_006713, RefSeq Protein:NP_060738, RefSeq RNA:NM_018268, UniProtKB:Q9HAD4 No chr5 76727622 76788332 77426652 77620611 +PA134914163 23160 HGNC:28945 ENSG00000163811 WD repeat domain 43 WDR43 UTP5, small subunit (SSU) processome component, homolog (yeast) KIAA0007, NET12, UTP5 Yes No Comparative Toxicogenomics Database:23160, Ensembl:ENSG00000163811, GeneCard:WDR43, HGNC:HGNC:28945, ModBase:Q15061, NCBI Gene:23160, RefSeq DNA:NT_022184, RefSeq Protein:NP_055946, RefSeq RNA:NM_015131, UniProtKB:Q15061, UniProtKB:Q8TB67 No chr2 29117533 29171080 28894643 28948220 +PA128394668 54521 HGNC:30512 ENSG00000131725 WD repeat domain 44 WDR44 rabphilin-11 DKFZp686L20145, RAB11BP, RPH11, SYM-4 Yes No Comparative Toxicogenomics Database:54521, Ensembl:ENSG00000131725, GeneCard:WDR44, HGNC:HGNC:30512, HumanCyc Gene:HS13395, ModBase:Q8NHU5, NCBI Gene:54521, RefSeq DNA:NG_021368, RefSeq DNA:NT_011786, RefSeq Protein:NP_001171894, RefSeq Protein:NP_001171895, RefSeq Protein:NP_061918, RefSeq RNA:NM_001184965, RefSeq RNA:NM_001184966, RefSeq RNA:NM_019045, UCSC Genome Browser:NM_019045, UniProtKB:Q5JSH3 No chrX 117480036 117583924 118345997 118449961 +PA134927673 11152 HGNC:28912 ENSG00000196998 WD repeat domain 45 WDR45 neurodegeneration with brain iron accumulation 4, neurodegeneration with brain iron accumulation 5 JM5, NBIA4, NBIA5, WDRX1, WIPI4 Yes No Comparative Toxicogenomics Database:11152, Ensembl:ENSG00000196998, GeneCard:WDR45, HGNC:HGNC:28912, ModBase:Q9Y484, NCBI Gene:11152, OMIM:300526, RefSeq DNA:NT_079573, RefSeq Protein:NP_001025067, RefSeq Protein:NP_009006, RefSeq RNA:NM_001029896, RefSeq RNA:NM_007075, UniProtKB:Q9Y484 No chrX 48932092 48958059 49074433 49101121 +PA134894387 56270 HGNC:25072 ENSG00000141580 WD repeat domain 45B WDR45B WDR45L, WIPI3 Yes No Comparative Toxicogenomics Database:56270, Ensembl:ENSG00000141580, GeneCard:WDR45L, HGNC:HGNC:25072, HumanCyc Gene:HS13899, ModBase:Q5MNZ6, NCBI Gene:56270, OMIM:609226, RefSeq DNA:NT_010663, RefSeq Protein:NP_062559, RefSeq RNA:NM_019613, UniProtKB:Q5MNZ6 No chr17 80572438 80606411 82614562 82648535 +PA134933242 646086 HGNC:26605 ENSG00000265574 WD repeat domain 45B pseudogene 1 WDR45BP1 Yes No Ensembl:ENSG00000265574, GeneCard:WDR45LP1, HGNC:HGNC:26605, NCBI Gene:646086 No chr17 30437209 30439714 32110190 32112695 +PA25924 9277 HGNC:13923 ENSG00000227057 WD repeat domain 46 WDR46 BING4, C6orf11, UTP7 Yes No Comparative Toxicogenomics Database:9277, Ensembl:ENSG00000227057, GenAtlas:WDR46, GeneCard:WDR46, HGNC:HGNC:13923, HumanCyc Gene:HS00220, ModBase:O15213, NCBI Gene:9277, OMIM:611440, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001157739, RefSeq Protein:NP_005443, RefSeq RNA:NM_001164267, RefSeq RNA:NM_005452, UCSC Genome Browser:NM_005452, UniProtKB:A8K806, UniProtKB:B4DP15, UniProtKB:O15213 No chr6 33246682 33257304 33278850 33289527 +PA134937302 22911 HGNC:29141 ENSG00000085433 WD repeat domain 47 WDR47 nemitin KIAA0893 Yes No Ensembl:ENSG00000085433, GeneCard:WDR47, HGNC:HGNC:29141, HumanCyc Gene:HS12287, ModBase:O94967, NCBI Gene:22911, RefSeq DNA:NT_032977, RefSeq Protein:NP_001136022, RefSeq Protein:NP_001136023, RefSeq Protein:NP_055784, RefSeq RNA:NM_001142550, RefSeq RNA:NM_001142551, RefSeq RNA:NM_014969, UniProtKB:A8MX09, UniProtKB:O94967 No chr1 109512835 109584860 108970211 109042228 +PA134956949 57599 HGNC:30914 ENSG00000114742 WD repeat domain 48 WDR48 Bun62, KIAA1449, P80, SPG60 Yes No Comparative Toxicogenomics Database:57599, Ensembl:ENSG00000114742, GeneCard:WDR48, HGNC:HGNC:30914, HumanCyc Gene:HS12824, ModBase:Q8TAF3, NCBI Gene:57599, OMIM:612167, RefSeq DNA:NT_022517, RefSeq Protein:NP_065890, RefSeq RNA:NM_020839, UniProtKB:Q8TAF3 No chr3 39093477 39138155 39051986 39096671 +PA134949512 151790 HGNC:26587 ENSG00000174776 WD repeat domain 49 WDR49 FLJ33620 Yes No Ensembl:ENSG00000174776, GeneCard:WDR49, HGNC:HGNC:26587, ModBase:Q8IV35, NCBI Gene:151790, RefSeq DNA:NT_005612, RefSeq Protein:NP_849146, RefSeq RNA:NM_178824, UniProtKB:Q8IV35 No chr3 167196289 167371747 167478684 167653501 +PA37361 11091 HGNC:12757 ENSG00000196363 WD repeat domain 5 WDR5 """BMP-2-induced gene 3 kb"", ""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89""" BIG-3, CFAP89, SWD3 Yes No Comparative Toxicogenomics Database:11091, Ensembl:ENSG00000196363, GenAtlas:WDR5, GeneCard:WDR5, HGNC:HGNC:12757, ModBase:P61964, NCBI Gene:11091, OMIM:609012, RefSeq DNA:NT_035014, RefSeq Protein:NP_060058, RefSeq Protein:NP_438172, RefSeq RNA:NM_017588, RefSeq RNA:NM_052821, UCSC Genome Browser:NM_017588, UniProtKB:P61964 No chr9 137000801 137025094 134135679 134159972 +PA134948456 348793 HGNC:28786 ENSG00000185798 WD repeat domain 53 WDR53 MGC12928, MGC64882 Yes No Comparative Toxicogenomics Database:348793, Ensembl:ENSG00000185798, GeneCard:WDR53, HGNC:HGNC:28786, ModBase:Q7Z5U6, NCBI Gene:348793, RefSeq DNA:NT_029928, RefSeq Protein:NP_872433, RefSeq RNA:NM_182627, UniProtKB:A0MNP1, UniProtKB:Q7Z5U6 No chr3 196281024 196295627 196554188 196568542 +PA142670589 84058 HGNC:25770 ENSG00000005448 WD repeat domain 54 WDR54 FLJ12953 Yes No Ensembl:ENSG00000005448, GeneCard:WDR54, HGNC:HGNC:25770, HumanCyc Gene:HS12004, ModBase:Q9H977, NCBI Gene:84058, RefSeq DNA:NT_022184, RefSeq Protein:NP_115494, RefSeq RNA:NM_032118, UniProtKB:Q9H977 No chr2 74648863 74652882 74421721 74425755 +PA142670590 54853 HGNC:25971 ENSG00000120314 WD repeat domain 55 WDR55 FLJ20195, FLJ21702 Yes No Ensembl:ENSG00000120314, GeneCard:WDR55, HGNC:HGNC:25971, HumanCyc Gene:HS12985, ModBase:Q9H6Y2, NCBI Gene:54853, RefSeq DNA:NT_029289, RefSeq Protein:NP_060176, RefSeq RNA:NM_017706, UniProtKB:Q9H6Y2 No chr5 140044384 140051930 140664799 140674119 +PA142670593 79726 HGNC:25706 ENSG00000103091 WD repeat domain 59 WDR59 FLJ12270 Yes No Comparative Toxicogenomics Database:79726, Ensembl:ENSG00000103091, GeneCard:WDR59, HGNC:HGNC:25706, ModBase:Q6PJI9, NCBI Gene:79726, RefSeq DNA:NT_010498, RefSeq Protein:NP_085058, RefSeq RNA:NM_030581, UniProtKB:Q6PJI9 No chr16 74907468 75019026 74873568 74985146 +PA38248 54554 HGNC:17826 ENSG00000196981 WD repeat domain 5B WDR5B FLJ11287 Yes No Ensembl:ENSG00000196981, GenAtlas:WDR5B, GeneCard:WDR5B, HGNC:HGNC:17826, ModBase:Q86VZ2, NCBI Gene:54554, RefSeq DNA:NT_005612, RefSeq Protein:NP_061942, RefSeq RNA:NM_019069, UCSC Genome Browser:NM_019069, UniProtKB:Q86VZ2 No chr3 122130700 122134882 122411853 122416035 +PA37362 11180 HGNC:12758 ENSG00000178252 WD repeat domain 6 WDR6 Trm734 homolog (S. cerevisiae) Trm734 Yes No Comparative Toxicogenomics Database:11180, Ensembl:ENSG00000178252, GenAtlas:WDR6, GeneCard:WDR6, HGNC:HGNC:12758, HumanCyc Gene:HS11268, ModBase:Q9NNW5, NCBI Gene:11180, OMIM:606031, RefSeq DNA:NT_022517, RefSeq Protein:NP_060501, RefSeq RNA:NM_018031, UCSC Genome Browser:NM_018031, UniProtKB:Q9H9M3, UniProtKB:Q9NNW5 No chr3 49044637 49053386 49007062 49015953 +PA134963627 284403 HGNC:24502 ENSG00000075702 WD repeat domain 62 WDR62 C19orf14, DKFZP434J046, FLJ33298, MCPH2 Yes No Comparative Toxicogenomics Database:284403, Ensembl:ENSG00000075702, GeneCard:WDR62, HGNC:HGNC:24502, ModBase:O43379, NCBI Gene:284403, RefSeq DNA:NT_011109, RefSeq Protein:NP_001077430, RefSeq Protein:NP_775907, RefSeq RNA:NM_001083961, RefSeq RNA:NM_173636, UniProtKB:O43379 No chr19 36545783 36596012 36054881 36111145 +PA142670597 128025 HGNC:26570 ENSG00000162843 WD repeat domain 64 WDR64 FLJ32978 Yes No Ensembl:ENSG00000162843, GeneCard:WDR64, HGNC:HGNC:26570, HumanCyc Gene:HS14975, NCBI Gene:128025, RefSeq DNA:NT_167186, RefSeq Protein:NP_653226, RefSeq RNA:NM_144625, UniProtKB:B1ANS9 No chr1 241815580 241965435 241652278 241802767 +PA37784 23335 HGNC:13490 ENSG00000091157 WD repeat domain 7 WDR7 KIAA0541, TRAG Yes Yes Ensembl:ENSG00000091157, GenAtlas:WDR7, GeneCard:WDR7, HGNC:HGNC:13490, HumanCyc Gene:HS12335, ModBase:Q9Y4E6, NCBI Gene:23335, OMIM:613473, RefSeq DNA:NT_025028, RefSeq Protein:NP_056100, RefSeq Protein:NP_443066, RefSeq RNA:NM_015285, RefSeq RNA:NM_052834, UCSC Genome Browser:NM_015285, UniProtKB:Q9Y4E6 No chr18 54318590 54697036 56651343 57029805 +PA142670603 55100 HGNC:25495 ENSG00000082068 WD repeat domain 70 WDR70 FLJ10233 Yes No Ensembl:ENSG00000082068, GeneCard:WDR70, HGNC:HGNC:25495, HumanCyc Gene:HS12267, ModBase:Q9NW82, NCBI Gene:55100, RefSeq DNA:NT_006576, RefSeq Protein:NP_060504, RefSeq RNA:NM_018034, UniProtKB:Q9NW82 No chr5 37379391 37752774 37379280 37752672 +PA142670587 256764 HGNC:26790 ENSG00000166415 WD repeat domain 72 WDR72 FLJ38736 Yes No Comparative Toxicogenomics Database:256764, Ensembl:ENSG00000166415, GeneCard:WDR72, HGNC:HGNC:26790, ModBase:Q3MJ13, NCBI Gene:256764, OMIM:613211, OMIM:613214, RefSeq DNA:NG_017034, RefSeq DNA:NT_010194, RefSeq Protein:NP_877435, RefSeq RNA:NM_182758, UniProtKB:Q3MJ13 No chr15 53805938 54055075 53513741 53762878 +PA142670588 84942 HGNC:25928 ENSG00000177082 WD repeat domain 73 WDR73 FLJ14888, HSPC264 Yes No Comparative Toxicogenomics Database:84942, Ensembl:ENSG00000177082, GeneCard:WDR73, HGNC:HGNC:25928, HumanCyc Gene:HS16785, ModBase:Q6P4I2, NCBI Gene:84942, RefSeq DNA:NT_010274, RefSeq Protein:NP_116245, RefSeq RNA:NM_032856, UniProtKB:Q6P4I2 No chr15 85185607 85197521 84640682 84654343 +PA142670578 54663 HGNC:25529 ENSG00000133316 WD repeat domain 74 WDR74 FLJ10439, Nsa1 Yes No Comparative Toxicogenomics Database:54663, Ensembl:ENSG00000133316, GeneCard:WDR74, HGNC:HGNC:25529, HumanCyc Gene:HS13474, ModBase:Q6RFH5, NCBI Gene:54663, RefSeq DNA:NT_167190, RefSeq Protein:NP_060563, RefSeq RNA:NM_018093, UniProtKB:Q6RFH5 No chr11 62600380 62608044 62832905 62841809 +PA142670579 84128 HGNC:25725 ENSG00000115368 WD repeat domain 75 WDR75 UTP17, small subunit (SSU) processome component, homolog (yeast) FLJ12519, NET16, UTP17 Yes No Comparative Toxicogenomics Database:84128, Ensembl:ENSG00000115368, GeneCard:WDR75, HGNC:HGNC:25725, ModBase:Q8IWA0, NCBI Gene:84128, RefSeq DNA:NT_005403, RefSeq Protein:NP_115544, RefSeq RNA:NM_032168, UniProtKB:Q8IWA0 No chr2 190306159 190340287 189441433 189475562 +PA142670580 79968 HGNC:25773 ENSG00000092470 WD repeat domain 76 WDR76 Cmr1, FLJ12973 Yes No Ensembl:ENSG00000092470, GeneCard:WDR76, HGNC:HGNC:25773, HumanCyc Gene:HS12347, ModBase:Q9H967, NCBI Gene:79968, RefSeq DNA:NT_010194, RefSeq Protein:NP_001161413, RefSeq Protein:NP_079184, RefSeq RNA:NM_001167941, RefSeq RNA:NM_024908, UniProtKB:Q9H967 No chr15 44119112 44160617 43826914 43868419 +PA142670581 79084 HGNC:29652 ENSG00000116455 WD repeat domain 77 WDR77 methylosome protein 50 MEP50, p44 Yes No Comparative Toxicogenomics Database:79084, Ensembl:ENSG00000116455, GeneCard:WDR77, HGNC:HGNC:29652, HumanCyc Gene:HS12867, ModBase:Q9BQA1, NCBI Gene:79084, OMIM:611734, RefSeq DNA:NT_032977, RefSeq Protein:NP_077007, RefSeq RNA:NM_024102, UniProtKB:Q9BQA1 No chr1 111982512 111991915 111439890 111449308 +PA142670584 124997 HGNC:26600 ENSG00000167716 WD repeat domain 81 WDR81 protein phosphatase 1, regulatory subunit 166 CAMRQ2, FLJ33817, PPP1R166, SORF-2 Yes No Ensembl:ENSG00000167716, GeneCard:WDR81, HGNC:HGNC:26600, HumanCyc Gene:HS15592, ModBase:Q562E7, NCBI Gene:124997, RefSeq DNA:NT_010718, RefSeq Protein:NP_001157145, RefSeq Protein:NP_001157281, RefSeq Protein:NP_001157283, RefSeq Protein:NP_689561, RefSeq Protein:XP_002343539, RefSeq Protein:XP_002345034, RefSeq Protein:XP_002347741, RefSeq RNA:NM_001163673, RefSeq RNA:NM_001163809, RefSeq RNA:NM_001163811, RefSeq RNA:NM_152348, RefSeq RNA:XM_002343498, RefSeq RNA:XM_002344993, RefSeq RNA:XM_002347700, UniProtKB:B3KW16, UniProtKB:B3KXU1, UniProtKB:B7Z579, UniProtKB:Q24JR4 No chr17 1619817 1641893 1716523 1738599 +PA142670585 80335 HGNC:28826 ENSG00000164091 WD repeat domain 82 WDR82 MST107, MSTP107, PRO2730, PRO34047, SWD2, TMEM113, WDR82A Yes No Ensembl:ENSG00000164091, GeneCard:WDR82, HGNC:HGNC:28826, ModBase:Q6UXN9, NCBI Gene:80335, OMIM:611059, RefSeq DNA:NT_022517, RefSeq Protein:NP_079498, RefSeq RNA:NM_025222, UniProtKB:Q6UXN9 No chr3 52288438 52312659 52254422 52278643 +PA165394765 84292 HGNC:32672 ENSG00000123154 WD repeat domain 83 WDR83 MAPK organizer 1 MORG1 Yes No Ensembl:ENSG00000123154, GeneCard:WDR83, HGNC:HGNC:32672, HumanCyc Gene:HS13079, NCBI Gene:84292, RefSeq DNA:NG_015814, RefSeq DNA:NT_011295, RefSeq Protein:NP_001093207, RefSeq Protein:NP_115708, RefSeq RNA:NM_001099737, RefSeq RNA:NM_032332, RefSeq RNA:NR_029375, UniProtKB:Q9BRX9 No chr19 12777618 12786646 12666804 12675832 +PA162378666 51398 HGNC:30203 ENSG00000105583 WD repeat domain 83 opposite strand WDR83OS Asterix C19orf56, PAT10, PTD008 Yes No Ensembl:ENSG00000105583, GeneCard:C19orf56, HGNC:HGNC:30203, HumanCyc Gene:HS02766, NCBI Gene:51398, RefSeq DNA:NT_011295, RefSeq Protein:NP_057229, RefSeq RNA:NM_016145, UniProtKB:Q9Y284 No chr19 12778881 12780465 12668067 12671023 +PA145147619 349136 HGNC:28020 ENSG00000187260 WD repeat domain 86 WDR86 Yes No Ensembl:ENSG00000187260, GeneCard:WDR86, HGNC:HGNC:28020, NCBI Gene:349136, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_938026, RefSeq RNA:NM_198285, UniProtKB:Q86TI4 No chr7 151077536 151107775 151377974 151410705 +PA145147633 83889 HGNC:29934 ENSG00000171804 WD repeat domain 87 WDR87 NYD-SP11 Yes No Comparative Toxicogenomics Database:83889, Ensembl:ENSG00000171804, GeneCard:WDR87, HGNC:HGNC:29934, HumanCyc Gene:HS10385, NCBI Gene:83889, RefSeq DNA:NT_011109, RefSeq Protein:NP_114157, RefSeq RNA:NM_031951, UniProtKB:Q6ZQQ6 No chr19 38375213 38397317 37884577 37906706 +PA162409139 126248 HGNC:26999 ENSG00000166359 WD repeat domain 88 WDR88 PQWD Yes No Ensembl:ENSG00000166359, GeneCard:WDR88, HGNC:HGNC:26999, HumanCyc Gene:HS09383, ModBase:Q6ZMY6, NCBI Gene:126248, RefSeq DNA:NT_011109, RefSeq Protein:NP_775750, RefSeq RNA:NM_173479, UniProtKB:Q6ZMY6 No chr19 33622949 33667830 33132092 33175799 +PA134871067 112840 HGNC:20489 ENSG00000140006 WD repeat domain 89 WDR89 C14orf150, MGC9907 Yes No Ensembl:ENSG00000140006, GeneCard:WDR89, HGNC:HGNC:20489, HumanCyc Gene:HS13811, ModBase:Q96FK6, NCBI Gene:112840, RefSeq DNA:NT_026437, RefSeq Protein:NP_001008726, RefSeq Protein:NP_542397, RefSeq RNA:NM_001008726, RefSeq RNA:NM_080666, UniProtKB:Q96FK6 No chr14 64063757 64108641 63597039 63641923 +PA145147652 197335 HGNC:26960 ENSG00000161996 WD repeat domain 90 WDR90 C16orf15, C16orf16, C16orf17, C16orf18, C16orf19, FLJ36483, KIAA1924, POC16 Yes No Comparative Toxicogenomics Database:197335, Ensembl:ENSG00000161996, GeneCard:WDR90, HGNC:HGNC:26960, HumanCyc Gene:HS14889, ModBase:Q8NBB8, NCBI Gene:197335, RefSeq DNA:NT_010393, RefSeq Protein:NP_660337, RefSeq RNA:NM_145294, UniProtKB:Q96KV7 No chr16 699363 717833 649363 667833 +PA162409166 29062 HGNC:24997 ENSG00000105875 WD repeat domain 91 WDR91 HSPC049, SORF-1 Yes No Ensembl:ENSG00000105875, GeneCard:WDR91, HGNC:HGNC:24997, HumanCyc Gene:HS12612, NCBI Gene:29062, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_054868, RefSeq RNA:NM_014149, UniProtKB:A4D1P6 No chr7 134868590 134896316 135183838 135211564 +PA162409188 56964 HGNC:26924 ENSG00000140527 WD repeat domain 93 WDR93 C1d-87, CFAP297, FAP297 Yes No Ensembl:ENSG00000140527, GeneCard:WDR93, HGNC:HGNC:26924, ModBase:Q6P2C0, NCBI Gene:56964, RefSeq DNA:NT_010274, RefSeq Protein:NP_064597, RefSeq RNA:NM_020212, UniProtKB:Q6P2C0 No chr15 90234028 90286869 89690074 89744390 +PA142671601 340390 HGNC:26959 ENSG00000179698 WD repeat domain 97 WDR97 KIAA1875 Yes No Ensembl:ENSG00000179698, GeneCard:KIAA1875, HGNC:HGNC:26959, NCBI Gene:340390, RefSeq DNA:NT_008046, RefSeq RNA:NR_024207 No chr8 145162629 145173218 144107692 144116392 +PA128394761 151525 HGNC:26697 ENSG00000196151 WD repeat, sterile alpha motif and U-box domain containing 1 WDSUB1 FLJ36175, UBOX6, WDSAM1 Yes No Comparative Toxicogenomics Database:151525, Ensembl:ENSG00000196151, GeneCard:WDSUB1, HGNC:HGNC:26697, ModBase:Q8N9V3, NCBI Gene:151525, RefSeq DNA:NT_005403, RefSeq Protein:NP_001121684, RefSeq Protein:NP_001121685, RefSeq Protein:NP_689741, RefSeq RNA:NM_001128212, RefSeq RNA:NM_001128213, RefSeq RNA:NM_152528, UCSC Genome Browser:NM_152528, UniProtKB:Q8N9V3 No chr2 160092304 160143304 159235793 159286799 +PA134981539 23038 HGNC:29175 ENSG00000142784 WD and tetratricopeptide repeats 1 WDTC1 DDB1 and CUL4 associated factor 9, adipose homolog (Drosophila) ADP, DCAF9, KIAA1037 Yes No Ensembl:ENSG00000142784, GeneCard:WDTC1, HGNC:HGNC:29175, HumanCyc Gene:HS06962, ModBase:Q8N5D0, NCBI Gene:23038, RefSeq DNA:NT_004610, RefSeq Protein:NP_055838, RefSeq RNA:NM_015023, UniProtKB:Q8N5D0 No chr1 27561007 27635124 27234516 27308633 +PA366 7465 HGNC:12761 ENSG00000166483 WEE1 G2 checkpoint kinase WEE1 WEE1 homolog (S. pombe) WEE1A Yes No Comparative Toxicogenomics Database:7465, Ensembl:ENSG00000166483, GenAtlas:WEE1, GeneCard:WEE1, HGNC:HGNC:12761, HumanCyc Gene:HS09406, ModBase:P30291, NCBI Gene:7465, OMIM:193525, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137448, RefSeq Protein:NP_003381, RefSeq RNA:NM_001143976, RefSeq RNA:NM_003390, UCSC Genome Browser:NM_003390, UniProtKB:B3KVE1, UniProtKB:P30291, UniProtKB:Q86V29 No chr11 9595197 9615016 9573681 9589767 +PA134909633 494551 HGNC:19684 ENSG00000214102 WEE2 oocyte meiosis inhibiting kinase WEE2 WEE1 homolog 2, WEE1 homolog 2 (S. pombe) FLJ16107, WEE1B Yes No Ensembl:ENSG00000214102, GeneCard:WEE2, HGNC:HGNC:19684, ModBase:P0C1S8, NCBI Gene:494551, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001099028, RefSeq RNA:NM_001105558, UniProtKB:P0C1S8 No chr7 141408153 141431071 141708353 141731271 +PA37963 58189 HGNC:15466 ENSG00000103175 WAP four-disulfide core domain 1 WFDC1 PS20 Yes No Comparative Toxicogenomics Database:58189, Ensembl:ENSG00000103175, GenAtlas:WFDC1, GeneCard:WFDC1, HGNC:HGNC:15466, HumanCyc Gene:HS02466, ModBase:Q9HC57, NCBI Gene:58189, OMIM:605322, RefSeq DNA:NT_010498, RefSeq Protein:NP_067020, RefSeq RNA:NM_021197, UCSC Genome Browser:NM_021197, UniProtKB:Q9HC57 No chr16 84328244 84363450 84294706 84329851 +PA25688 140832 HGNC:16139 ENSG00000180305 WAP four-disulfide core domain 10A WFDC10A C20orf146, WAP10, dJ688G8.3 Yes No Ensembl:ENSG00000180305, GeneCard:WFDC10A, HGNC:HGNC:16139, HumanCyc Gene:HS11481, ModBase:Q9H1F0, NCBI Gene:140832, RefSeq DNA:NT_011362, RefSeq Protein:NP_542791, RefSeq RNA:NM_080753, UCSC Genome Browser:NM_080753, UniProtKB:Q9H1F0 No chr20 44258385 44259831 45629746 45631192 +PA134935020 280664 HGNC:20479 ENSG00000182931 WAP four-disulfide core domain 10B WFDC10B WAP12 Yes No Ensembl:ENSG00000182931, GeneCard:WFDC10B, HGNC:HGNC:20479, ModBase:Q8IUB3, NCBI Gene:280664, RefSeq DNA:NT_011362, RefSeq Protein:NP_742003, RefSeq Protein:NP_742143, RefSeq RNA:NM_172006, RefSeq RNA:NM_172131, UniProtKB:Q8IUB3 No chr20 44313290 44333658 45684651 45708899 +PA134905167 259239 HGNC:20478 ENSG00000180083 WAP four-disulfide core domain 11 WFDC11 WAP11 Yes No Ensembl:ENSG00000180083, GeneCard:WFDC11, HGNC:HGNC:20478, HumanCyc Gene:HS17431, ModBase:Q8NEX6, NCBI Gene:259239, RefSeq DNA:NT_011362, RefSeq Protein:NP_671730, RefSeq RNA:NM_147197, UniProtKB:Q8NEX6 No chr20 44277202 44298878 45648563 45670239 +PA25663 128488 HGNC:16115 ENSG00000168703 WAP four-disulfide core domain 12 WFDC12 C20orf122, WAP2, dJ211D12.4 Yes No Comparative Toxicogenomics Database:128488, Ensembl:ENSG00000168703, GeneCard:WFDC12, HGNC:HGNC:16115, HumanCyc Gene:HS09808, ModBase:Q8WWY7, NCBI Gene:128488, OMIM:609872, RefSeq DNA:NT_011362, RefSeq Protein:NP_543145, RefSeq RNA:NM_080869, UCSC Genome Browser:NM_080869, UniProtKB:Q8WWY7 No chr20 43752067 43753106 45123426 45124465 +PA25680 164237 HGNC:16131 ENSG00000168634 WAP four-disulfide core domain 13 WFDC13 C20orf138, WAP13, dJ601O1.3 Yes No Ensembl:ENSG00000168634, GeneCard:WFDC13, HGNC:HGNC:16131, HumanCyc Gene:HS15695, ModBase:Q8IUB5, NCBI Gene:164237, RefSeq DNA:NT_011362, RefSeq Protein:NP_742002, RefSeq RNA:NM_172005, UCSC Genome Browser:NM_172005, UniProtKB:Q8IUB5 No chr20 44330655 44337456 45702016 45708817 +PA38059 10406 HGNC:15939 ENSG00000101443 WAP four-disulfide core domain 2 WFDC2 epididymal protein 4, human epididymis protein 4 EDDM4, HE4, WAP5, dJ461P17.6 Yes No Comparative Toxicogenomics Database:10406, Ensembl:ENSG00000101443, GenAtlas:WFDC2, GeneCard:WFDC2, HGNC:HGNC:15939, HumanCyc Gene:HS02272, ModBase:Q14508, NCBI Gene:10406, RefSeq DNA:NT_011362, RefSeq Protein:NP_006094, RefSeq RNA:NM_006103, UCSC Genome Browser:NM_006103, UniProtKB:Q14508 No chr20 44098229 44110172 45469754 45481532 +PA38067 140686 HGNC:15957 ENSG00000124116 WAP four-disulfide core domain 3 WFDC3 WAP14, dJ447F3.3 Yes No Ensembl:ENSG00000124116, GenAtlas:WFDC3, GeneCard:WFDC3, HGNC:HGNC:15957, HumanCyc Gene:HS13110, ModBase:Q8IUB2, NCBI Gene:140686, RefSeq DNA:NT_011362, RefSeq Protein:NP_542181, RefSeq RNA:NM_080614, UCSC Genome Browser:NM_080614, UniProtKB:Q8IUB2 No chr20 44402847 44420547 45708860 45791908 +PA134885667 149708 HGNC:20477 ENSG00000175121 WAP four-disulfide core domain 5 WFDC5 WAP1, dJ211D12.5 Yes No Ensembl:ENSG00000175121, GeneCard:WFDC5, HGNC:HGNC:20477, HumanCyc Gene:HS10882, NCBI Gene:149708, OMIM:605161, RefSeq DNA:NT_011362, RefSeq Protein:NP_663627, RefSeq RNA:NM_145652, UniProtKB:Q8TCV5 No chr20 43738093 43743813 45109452 45116321 +PA25714 140870 HGNC:16164 ENSG00000243543 WAP four-disulfide core domain 6 WFDC6 C20orf171, WAP6, dJ461P17.11 Yes No Ensembl:ENSG00000243543, GeneCard:WFDC6, HGNC:HGNC:16164, ModBase:Q9BQY6, NCBI Gene:140870, RefSeq DNA:NT_011362, RefSeq Protein:NP_543017, RefSeq RNA:NM_080827, UCSC Genome Browser:NM_080827, UniProtKB:Q9BQY6 No chr20 44162836 44168134 45534197 45539495 +PA25713 90199 HGNC:16163 ENSG00000158901 WAP four-disulfide core domain 8 WFDC8 C20orf170, WAP8, dJ461P17.1 Yes No Ensembl:ENSG00000158901, GeneCard:WFDC8, HGNC:HGNC:16163, ModBase:Q8IUA0, NCBI Gene:90199, RefSeq DNA:NT_011362, RefSeq Protein:NP_570966, RefSeq Protein:NP_852611, RefSeq RNA:NM_130896, RefSeq RNA:NM_181510, UCSC Genome Browser:NM_130896, UniProtKB:Q8IUA0 No chr20 44179791 44207989 45551152 45579326 +PA134934414 259240 HGNC:20380 ENSG00000180205 WAP four-disulfide core domain 9 WFDC9 WAP9, dJ688G8.2 Yes No Ensembl:ENSG00000180205, GeneCard:WFDC9, HGNC:HGNC:20380, HumanCyc Gene:HS17450, ModBase:Q8NEX5, NCBI Gene:259240, RefSeq DNA:NT_011362, RefSeq Protein:NP_671731, RefSeq RNA:NM_147198, UniProtKB:Q8NEX5 No chr20 44236578 44259907 45607939 45631268 +PA134897686 117166 HGNC:30912 ENSG00000127578 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 WFIKKN1 WAP four-disulfide core domain 20A C16orf12, RJD2, WFDC20A, WFIKKN Yes No Ensembl:ENSG00000127578, GeneCard:WFIKKN1, HGNC:HGNC:30912, HumanCyc Gene:HS08633, ModBase:Q96NZ8, NCBI Gene:117166, OMIM:608021, RefSeq DNA:NT_010393, RefSeq Protein:NP_444514, RefSeq RNA:NM_053284, UniProtKB:Q96NZ8 No chr16 681012 684116 631012 634116 +PA134864812 124857 HGNC:30916 ENSG00000173714 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 WFIKKN2 WAP four-disulfide core domain 20B WFDC20B, WFIKKNRP Yes No Ensembl:ENSG00000173714, GeneCard:WFIKKN2, HGNC:HGNC:30916, HumanCyc Gene:HS10718, ModBase:Q8TEU8, NCBI Gene:124857, OMIM:610895, RefSeq DNA:NT_010783, RefSeq Protein:NP_783165, RefSeq RNA:NM_175575, UniProtKB:Q8TEU8 No chr17 48912011 48919709 50834650 50842353 +PA37365 7466 HGNC:12762 ENSG00000109501 wolframin ER transmembrane glycoprotein WFS1 Wolfram syndrome 1 (wolframin) DFNA14, DFNA38, DFNA6, DIDMOAD, WFS Yes Yes Comparative Toxicogenomics Database:7466, Ensembl:ENSG00000109501, GenAtlas:WFS1, GeneCard:WFS1, HGNC:HGNC:12762, HumanCyc Gene:HS03233, ModBase:O76024, NCBI Gene:7466, OMIM:125853, OMIM:222300, OMIM:600965, OMIM:606201, RefSeq DNA:NG_011700, RefSeq DNA:NT_006051, RefSeq Protein:NP_001139325, RefSeq Protein:NP_005996, RefSeq RNA:NM_001145853, RefSeq RNA:NM_006005, UCSC Genome Browser:NM_006005, UniProtKB:O76024 No chr4 6271577 6304992 6260368 6303265 +PA164727567 123720 HGNC:30493 ENSG00000156232 WASP homolog associated with actin, golgi membranes and microtubules WHAMM WAS protein homolog associated with actin, golgi membranes and microtubules KIAA1971, WHAMM1, WHDC1 Yes No Ensembl:ENSG00000156232, GeneCard:WHAMM, HGNC:HGNC:30493, ModBase:Q8TF30, NCBI Gene:123720, OMIM:612393, RefSeq DNA:NT_077661, RefSeq Protein:NP_001073904, RefSeq Protein:XP_058720, RefSeq Protein:XP_938387, RefSeq Protein:XP_938391, RefSeq Protein:XP_938393, RefSeq Protein:XP_938398, RefSeq Protein:XP_944959, RefSeq Protein:XP_949452, RefSeq Protein:XP_949455, RefSeq Protein:XP_949461, RefSeq RNA:NM_001080435, RefSeq RNA:XM_058720, RefSeq RNA:XM_933294, RefSeq RNA:XM_933298, RefSeq RNA:XM_933300, RefSeq RNA:XM_933305, RefSeq RNA:XM_939866, RefSeq RNA:XM_944359, RefSeq RNA:XM_944362, RefSeq RNA:XM_944368, UniProtKB:Q8TF30 No chr15 83476959 83503613 82808177 82834861 +PA142670571 440253 HGNC:32360 ENSG00000248334 WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2 WHAMMP2 Yes No Ensembl:ENSG00000248334, HGNC:HGNC:32360, NCBI Gene:440253, RefSeq DNA:NT_078096, RefSeq Protein:XP_496050, RefSeq Protein:XP_931868, RefSeq Protein:XP_931878, RefSeq Protein:XP_940397, RefSeq Protein:XP_947364, RefSeq RNA:NR_026589, RefSeq RNA:XM_496050, RefSeq RNA:XM_926775, RefSeq RNA:XM_926785, RefSeq RNA:XM_935304, RefSeq RNA:XM_942271 No chr15 28982729 29003508 28737583 28758362 +PA142670570 339005 HGNC:27892 ENSG00000276141 WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 WHAMMP3 Yes No Ensembl:ENSG00000276141, HGNC:HGNC:27892, NCBI Gene:339005, RefSeq DNA:NT_078094, RefSeq Protein:XP_370838, RefSeq Protein:XP_931507, RefSeq Protein:XP_936340, RefSeq Protein:XP_936354, RefSeq Protein:XP_936360, RefSeq Protein:XP_936365, RefSeq Protein:XP_938727, RefSeq Protein:XP_938729, RefSeq RNA:NR_003521, RefSeq RNA:XM_370838, RefSeq RNA:XM_926414, RefSeq RNA:XM_931247, RefSeq RNA:XM_931261, RefSeq RNA:XM_931267, RefSeq RNA:XM_931272, RefSeq RNA:XM_933634, RefSeq RNA:XM_933636 No chr15 23187728 23208357 22664739 22685368 +PA27297 25861 HGNC:16361 ENSG00000095397 whirlin WHRN """deafness, autosomal recessive 31"", ""whirlin""" CIP98, DFNB31, PDZD7B, USH2D, WHRN Yes No Comparative Toxicogenomics Database:25861, Ensembl:ENSG00000095397, GenAtlas:DFNB31, GeneCard:DFNB31, HGNC:HGNC:16361, ModBase:Q9P202, NCBI Gene:25861, OMIM:607084, OMIM:607928, OMIM:611383, RefSeq DNA:NG_016700, RefSeq DNA:NT_008470, RefSeq Protein:NP_001077354, RefSeq Protein:NP_001166896, RefSeq Protein:NP_056219, RefSeq RNA:NM_001083885, RefSeq RNA:NM_001173425, RefSeq RNA:NM_015404, UniProtKB:B9EGE6, UniProtKB:Q9P202 No chr9 117164360 117267789 114402078 114505509 +PA37907 100128016 HGNC:14647 ENSG00000267253 Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene WHSC1L2P HsT36289, NSD4P, WHSC1L1P Yes No Ensembl:ENSG00000267253, GenAtlas:WHSC1L2P, GeneCard:WHSC1L2P, HGNC:HGNC:14647, NCBI Gene:100128016, RefSeq DNA:NG_009508, RefSeq DNA:NT_010783 No chr17 41795682 41797804 43718314 43720436 +PA38291 11197 HGNC:18081 ENSG00000156076 WNT inhibitory factor 1 WIF1 Yes Yes Comparative Toxicogenomics Database:11197, Ensembl:ENSG00000156076, GenAtlas:WIF1, GeneCard:WIF1, HGNC:HGNC:18081, ModBase:Q9Y5W5, NCBI Gene:11197, OMIM:605186, RefSeq DNA:NT_029419, RefSeq Protein:NP_009122, RefSeq RNA:NM_007191, UCSC Genome Browser:NM_007191, UniProtKB:Q9Y5W5 No chr12 65444404 65515346 65050624 65121566 +PA162409189 7456 HGNC:12736 ENSG00000115935 WAS/WASL interacting protein family member 1 WIPF1 WAS/WASL interacting protein family, member 1 WASPIP, WIP Yes No Ensembl:ENSG00000115935, GeneCard:WIPF1, HGNC:HGNC:12736, HumanCyc Gene:HS03954, ModBase:O43516, NCBI Gene:7456, OMIM:602357, RefSeq DNA:NT_005403, RefSeq Protein:NP_001070737, RefSeq Protein:NP_003378, RefSeq RNA:NM_001077269, RefSeq RNA:NM_003387, UniProtKB:O43516, UniProtKB:Q2YDC4 No chr2 175424302 175547667 174559574 174682899 +PA162409210 147179 HGNC:30923 ENSG00000171475 WAS/WASL interacting protein family member 2 WIPF2 WAS/WASL interacting protein family, member 2 WICH, WIRE Yes No Ensembl:ENSG00000171475, GeneCard:WIPF2, HGNC:HGNC:30923, HumanCyc Gene:HS15990, ModBase:Q8TF74, NCBI Gene:147179, OMIM:609692, RefSeq DNA:NT_010783, RefSeq Protein:NP_573571, RefSeq RNA:NM_133264, UniProtKB:Q8TF74 No chr17 38375556 38438944 40219304 40284136 +PA162409231 644150 HGNC:22004 ENSG00000122574 WAS/WASL interacting protein family member 3 WIPF3 WAS/WASL interacting protein family, member 3 CR16, FLJ36931 Yes No Ensembl:ENSG00000122574, GeneCard:WIPF3, HGNC:HGNC:22004, ModBase:A6NGB9, NCBI Gene:644150, OMIM:612432, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001073998, RefSeq RNA:NM_001080529, UniProtKB:A6NGB9 No chr7 29846170 29956682 29806554 29917066 +PA142670575 55062 HGNC:25471 ENSG00000070540 WD repeat domain, phosphoinositide interacting 1 WIPI1 ATG18A, Atg18, FLJ10055, WIPI49 Yes No Comparative Toxicogenomics Database:55062, Ensembl:ENSG00000070540, GeneCard:WIPI1, HGNC:HGNC:25471, HumanCyc Gene:HS12212, ModBase:Q5MNZ9, NCBI Gene:55062, OMIM:609224, RefSeq DNA:NT_010783, RefSeq Protein:NP_060453, RefSeq RNA:NM_017983, UniProtKB:Q5MNZ9 No chr17 66417422 66453653 68421281 68457524 +PA142670576 26100 HGNC:32225 ENSG00000157954 WD repeat domain, phosphoinositide interacting 2 WIPI2 ATG18B, Atg21, CGI-50, DKFZP434J154, DKFZp686P02188, FLJ12979, FLJ14217, FLJ42984 Yes No Comparative Toxicogenomics Database:26100, Ensembl:ENSG00000157954, GeneCard:WIPI2, HGNC:HGNC:32225, HumanCyc Gene:HS14685, ModBase:Q9Y4P8, NCBI Gene:26100, OMIM:609225, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001028690, RefSeq Protein:NP_001028691, RefSeq Protein:NP_001028692, RefSeq Protein:NP_056425, RefSeq Protein:NP_057087, RefSeq RNA:NM_001033518, RefSeq RNA:NM_001033519, RefSeq RNA:NM_001033520, RefSeq RNA:NM_015610, RefSeq RNA:NM_016003, UniProtKB:Q9Y4P8 No chr7 5229835 5273486 5190204 5233855 +PA162409232 58525 HGNC:30917 ENSG00000011451 WIZ zinc finger WIZ widely interspaced zinc finger motifs ZNF803 Yes No Ensembl:ENSG00000011451, GeneCard:WIZ, HGNC:HGNC:30917, NCBI Gene:58525, RefSeq DNA:NT_011295, RefSeq Protein:NP_067064, RefSeq RNA:NM_021241, UniProtKB:O95785 No chr19 15532318 15560767 15421507 15449956 +PA165752781 79971 HGNC:30238 ENSG00000116729 Wnt ligand secretion mediator WLS wntless Wnt ligand secretion mediator, wntless homolog, wntless homolog (Drosophila) C1orf139, EVI, FLJ23091, GPR177, MRP, mig-14, wls Yes No Ensembl:ENSG00000116729, GeneCard:WLS, HGNC:HGNC:30238, HumanCyc Gene:HS04041, ModBase:Q5T9L3, NCBI Gene:79971, OMIM:611514, RefSeq DNA:NT_032977, RefSeq Protein:NP_001002292, RefSeq Protein:NP_001180263, RefSeq Protein:NP_079187, RefSeq RNA:NM_001002292, RefSeq RNA:NM_001193334, RefSeq RNA:NM_024911, UniProtKB:Q5T9L3, UniProtKB:Q8N2N3, UniProtKB:Q96IV8 No chr1 68564142 68698284 68098459 68233000 +PA33782 65125 HGNC:14540 ENSG00000060237 WNK lysine deficient protein kinase 1 WNK1 protein phosphatase 1, regulatory subunit 167 HSAN2, HSN2, PPP1R167, PRKWNK1 Yes Yes Comparative Toxicogenomics Database:65125, Ensembl:ENSG00000060237, GenAtlas:WNK1, GeneCard:WNK1, HGNC:HGNC:14540, HumanCyc Gene:HS00741, ModBase:Q9H4A3, NCBI Gene:65125, OMIM:145260, OMIM:201300, OMIM:605232, RefSeq DNA:NG_007984, RefSeq DNA:NT_009759, RefSeq Protein:NP_001171914, RefSeq Protein:NP_055638, RefSeq Protein:NP_061852, RefSeq Protein:NP_998820, RefSeq RNA:NM_001184985, RefSeq RNA:NM_014823, RefSeq RNA:NM_018979, RefSeq RNA:NM_213655, UCSC Genome Browser:NM_018979, UniProtKB:Q9H4A3 No chr12 861759 1020618 752552 911452 +PA33783 65268 HGNC:14542 ENSG00000165238 WNK lysine deficient protein kinase 2 WNK2 KIAA1760, NY-CO-43, PRKWNK2, SDCCAG43 Yes No Comparative Toxicogenomics Database:65268, Ensembl:ENSG00000165238, GenAtlas:WNK2, GeneCard:WNK2, HGNC:HGNC:14542, HumanCyc Gene:HS01672, ModBase:Q9Y3S1, NCBI Gene:65268, OMIM:606249, RefSeq DNA:NT_008470, RefSeq Protein:NP_006639, RefSeq RNA:NM_006648, UCSC Genome Browser:NM_006648, UniProtKB:Q9Y3S1 No chr9 95946437 96082854 93184156 93327581 +PA33784 65267 HGNC:14543 ENSG00000196632 WNK lysine deficient protein kinase 3 WNK3 PRKWNK3 Yes No Ensembl:ENSG00000196632, GenAtlas:WNK3, GeneCard:WNK3, HGNC:HGNC:14543, HumanCyc Gene:HS04476, ModBase:Q9BYP7, NCBI Gene:65267, OMIM:300358, RefSeq DNA:NG_021259, RefSeq DNA:NT_011630, RefSeq Protein:NP_001002838, RefSeq Protein:NP_065973, RefSeq RNA:NM_001002838, RefSeq RNA:NM_020922, UCSC Genome Browser:NM_020922, UniProtKB:Q9BYP7 No chrX 54219256 54384438 54192823 54358695 +PA134875400 65266 HGNC:14544 ENSG00000126562 WNK lysine deficient protein kinase 4 WNK4 PRKWNK4 Yes No Comparative Toxicogenomics Database:65266, Ensembl:ENSG00000126562, GenAtlas:WNK4, GeneCard:WNK4, HGNC:HGNC:14544, HumanCyc Gene:HS05033, ModBase:Q96J92, NCBI Gene:65266, OMIM:145260, OMIM:601844, RefSeq DNA:NG_016227, RefSeq DNA:NT_010783, RefSeq Protein:NP_115763, RefSeq RNA:NM_032387, UCSC Genome Browser:NM_032387, UniProtKB:B0LPI0, UniProtKB:Q96J92 No chr17 40932632 40949084 42779701 42797066 +PA37376 7471 HGNC:12774 ENSG00000125084 Wnt family member 1 WNT1 wingless-type MMTV integration site family, member 1 INT1 Yes No Comparative Toxicogenomics Database:7471, Ensembl:ENSG00000125084, GenAtlas:WNT1, GeneCard:WNT1, HGNC:HGNC:12774, HumanCyc Gene:HS04851, ModBase:P04628, NCBI Gene:7471, OMIM:164820, RefSeq DNA:NT_029419, RefSeq Protein:NP_005421, RefSeq RNA:NM_005430, UCSC Genome Browser:NM_005430, UniProtKB:P04628 No chr12 49372236 49376396 48978453 48982613 +PA37817 80326 HGNC:13829 ENSG00000135925 Wnt family member 10A WNT10A wingless-type MMTV integration site family, member 10A Yes No Comparative Toxicogenomics Database:80326, Ensembl:ENSG00000135925, GenAtlas:WNT10A, GeneCard:WNT10A, HGNC:HGNC:13829, HumanCyc Gene:HS06087, ModBase:Q9GZT5, NCBI Gene:80326, OMIM:224750, OMIM:257980, OMIM:606268, RefSeq DNA:NG_012179, RefSeq DNA:NT_005403, RefSeq Protein:NP_079492, RefSeq RNA:NM_025216, UCSC Genome Browser:NM_025216, UniProtKB:Q53S44, UniProtKB:Q9GZT5 No chr2 219745255 219758651 218874116 218893931 +PA37377 7480 HGNC:12775 ENSG00000169884 Wnt family member 10B WNT10B wingless-type MMTV integration site family, member 10B SHFM6, WNT-12 Yes No Comparative Toxicogenomics Database:7480, Ensembl:ENSG00000169884, GenAtlas:WNT10B, GeneCard:WNT10B, HGNC:HGNC:12775, HumanCyc Gene:HS10025, ModBase:O00744, NCBI Gene:7480, OMIM:225300, OMIM:601906, RefSeq DNA:NG_023347, RefSeq DNA:NT_029419, RefSeq Protein:NP_003385, RefSeq RNA:NM_003394, UCSC Genome Browser:NM_003394, UniProtKB:O00744 No chr12 49359123 49365641 48965340 48971858 +PA37378 7481 HGNC:12776 ENSG00000085741 Wnt family member 11 WNT11 wingless-type MMTV integration site family, member 11 Yes No Comparative Toxicogenomics Database:7481, Ensembl:ENSG00000085741, GenAtlas:WNT11, GeneCard:WNT11, HGNC:HGNC:12776, HumanCyc Gene:HS01506, ModBase:O96014, NCBI Gene:7481, OMIM:603699, RefSeq DNA:NT_167190, RefSeq Protein:NP_004617, RefSeq RNA:NM_004626, UCSC Genome Browser:NM_004626, UniProtKB:O96014 No chr11 75897370 75921803 76186326 76210842 +PA38105 51384 HGNC:16267 ENSG00000002745 Wnt family member 16 WNT16 wingless-type MMTV integration site family, member 16 Yes No Comparative Toxicogenomics Database:51384, Ensembl:ENSG00000002745, GenAtlas:WNT16, GeneCard:WNT16, HGNC:HGNC:16267, HumanCyc Gene:HS00084, NCBI Gene:51384, OMIM:606267, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_057171, RefSeq Protein:NP_476509, RefSeq RNA:NM_016087, RefSeq RNA:NM_057168, UCSC Genome Browser:NM_016087, UniProtKB:Q9UBV4 No chr7 120965421 120981158 121325367 121341104 +PA37381 7472 HGNC:12780 ENSG00000105989 Wnt family member 2 WNT2 secreted growth factor, wingless-type MMTV integration site family member 2 INT1L1, IRP Yes No Comparative Toxicogenomics Database:7472, Ensembl:ENSG00000105989, GenAtlas:WNT2, GeneCard:WNT2, HGNC:HGNC:12780, HumanCyc Gene:HS02840, NCBI Gene:7472, OMIM:147870, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_003382, RefSeq RNA:NM_003391, RefSeq RNA:NR_024047, UCSC Genome Browser:NM_003391, UniProtKB:A4D0V1, UniProtKB:P09544 No chr7 116916685 116963343 117276631 117323289 +PA37382 7482 HGNC:12781 ENSG00000134245 Wnt family member 2B WNT2B """XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"", ""wingless-type MMTV integration site family, member 2B""" WNT13, XWNT2 Yes No Comparative Toxicogenomics Database:7482, Ensembl:ENSG00000134245, GenAtlas:WNT2B, GeneCard:WNT2B, HGNC:HGNC:12781, HumanCyc Gene:HS05839, NCBI Gene:7482, OMIM:601968, RefSeq DNA:NT_032977, RefSeq Protein:NP_004176, RefSeq Protein:NP_078613, RefSeq RNA:NM_004185, RefSeq RNA:NM_024494, UCSC Genome Browser:NM_004185, UniProtKB:Q5TEH9, UniProtKB:Q93097 No chr1 113010040 113063910 112466541 112521288 +PA37383 7473 HGNC:12782 ENSG00000108379 Wnt family member 3 WNT3 """WNT-3 proto-oncogene protein"", ""wingless-type MMTV integration site family, member 3""" INT4, MGC131950, MGC138321, MGC138323 Yes No Comparative Toxicogenomics Database:7473, Ensembl:ENSG00000108379, GenAtlas:WNT3, GeneCard:WNT3, HGNC:HGNC:12782, HumanCyc Gene:HS03093, NCBI Gene:7473, OMIM:165330, OMIM:273395, RefSeq DNA:NG_008084, RefSeq DNA:NT_010783, RefSeq Protein:NP_110380, RefSeq RNA:NM_030753, UCSC Genome Browser:NM_030753, UniProtKB:P56703 No chr17 44839872 44896126 46762506 46818760 +PA38074 89780 HGNC:15983 ENSG00000154342 Wnt family member 3A WNT3A wingless-type MMTV integration site family, member 3A Yes No Comparative Toxicogenomics Database:89780, Ensembl:ENSG00000154342, GenAtlas:WNT3A, GeneCard:WNT3A, HGNC:HGNC:15983, HumanCyc Gene:HS07975, NCBI Gene:89780, OMIM:606359, RefSeq DNA:NT_167186, RefSeq Protein:NP_149122, RefSeq RNA:NM_033131, UCSC Genome Browser:NM_033131, UniProtKB:P56704 No chr1 228194723 228248972 228007022 228067113 +PA37384 54361 HGNC:12783 ENSG00000162552 Wnt family member 4 WNT4 wingless-type MMTV integration site family, member 4 WNT-4 Yes No Comparative Toxicogenomics Database:54361, Ensembl:ENSG00000162552, GenAtlas:WNT4, GeneCard:WNT4, HGNC:HGNC:12783, HumanCyc Gene:HS08692, NCBI Gene:54361, OMIM:158330, OMIM:277000, OMIM:603490, OMIM:611812, RefSeq DNA:NG_008974, RefSeq DNA:NT_004610, RefSeq Protein:NP_110388, RefSeq RNA:NM_030761, UCSC Genome Browser:NM_030761, UniProtKB:P56705 No chr1 22443798 22470474 22117305 22143981 +PA37385 7474 HGNC:12784 ENSG00000114251 Wnt family member 5A WNT5A """WNT-5A protein"", ""wingless-type MMTV integration site family, member 5A""" hWNT5A Yes No Comparative Toxicogenomics Database:7474, Ensembl:ENSG00000114251, GenAtlas:WNT5A, GeneCard:WNT5A, HGNC:HGNC:12784, HumanCyc Gene:HS03749, NCBI Gene:7474, OMIM:164975, RefSeq DNA:NT_022517, RefSeq Protein:NP_003383, RefSeq RNA:NM_003392, UCSC Genome Browser:NM_003392, UniProtKB:P41221 No chr3 55499743 55521670 55465715 55505261 +PA38104 81029 HGNC:16265 ENSG00000111186 Wnt family member 5B WNT5B wingless-type MMTV integration site family, member 5B Yes Yes Comparative Toxicogenomics Database:81029, Ensembl:ENSG00000111186, GenAtlas:WNT5B, GeneCard:WNT5B, HGNC:HGNC:16265, HumanCyc Gene:HS03375, NCBI Gene:81029, OMIM:606361, RefSeq DNA:NT_009759, RefSeq Protein:NP_110402, RefSeq Protein:NP_116031, RefSeq RNA:NM_030775, RefSeq RNA:NM_032642, UCSC Genome Browser:NM_030775, UniProtKB:Q9H1J7 No chr12 1683823 1756379 1617056 1647212 +PA37386 7475 HGNC:12785 ENSG00000115596 Wnt family member 6 WNT6 wingless-type MMTV integration site family, member 6 Yes No Comparative Toxicogenomics Database:7475, Ensembl:ENSG00000115596, GenAtlas:WNT6, GeneCard:WNT6, HGNC:HGNC:12785, HumanCyc Gene:HS03914, NCBI Gene:7475, OMIM:604663, RefSeq DNA:NT_005403, RefSeq Protein:NP_006513, RefSeq RNA:NM_006522, UCSC Genome Browser:NM_006522, UniProtKB:Q8N2E5, UniProtKB:Q9Y6F9 No chr2 219724546 219738954 218859823 218874232 +PA37387 7476 HGNC:12786 ENSG00000154764 Wnt family member 7A WNT7A """proto-oncogene Wnt7a protein"", ""wingless-type MMTV integration site family, member 7A""" Wnt-7a Yes No Comparative Toxicogenomics Database:7476, Ensembl:ENSG00000154764, GenAtlas:WNT7A, GeneCard:WNT7A, HGNC:HGNC:12786, HumanCyc Gene:HS08008, NCBI Gene:7476, OMIM:228930, OMIM:276820, OMIM:601570, RefSeq DNA:NG_008088, RefSeq DNA:NT_022517, RefSeq Protein:NP_004616, RefSeq RNA:NM_004625, UCSC Genome Browser:NM_004625, UniProtKB:O00755 No chr3 13860082 13921618 13818108 13880121 +PA37388 7477 HGNC:12787 ENSG00000188064 Wnt family member 7B WNT7B wingless-type MMTV integration site family, member 7B Yes No Comparative Toxicogenomics Database:7477, Ensembl:ENSG00000188064, GenAtlas:WNT7B, GeneCard:WNT7B, HGNC:HGNC:12787, ModBase:P56706, NCBI Gene:7477, OMIM:601967, RefSeq DNA:NT_011520, RefSeq Protein:NP_478679, RefSeq RNA:NM_058238, UCSC Genome Browser:NM_058238, UniProtKB:P56706 No chr22 46316246 46373008 45920362 45977128 +PA37389 7478 HGNC:12788 ENSG00000061492 Wnt family member 8A WNT8A wingless-type MMTV integration site family, member 8A WNT8D Yes No Comparative Toxicogenomics Database:7478, Ensembl:ENSG00000061492, GenAtlas:WNT8A, GeneCard:WNT8A, HGNC:HGNC:12788, HumanCyc Gene:HS00756, NCBI Gene:7478, OMIM:606360, RefSeq DNA:NT_034772, RefSeq Protein:NP_490645, RefSeq RNA:NM_058244, UCSC Genome Browser:NM_031933, UniProtKB:Q9H1J5 No chr5 137419581 137428337 138077367 138092900 +PA37390 7479 HGNC:12789 ENSG00000075290 Wnt family member 8B WNT8B wingless-type MMTV integration site family, member 8B Yes No Ensembl:ENSG00000075290, GenAtlas:WNT8B, GeneCard:WNT8B, HGNC:HGNC:12789, HumanCyc Gene:HS01169, NCBI Gene:7479, OMIM:601396, RefSeq DNA:NT_030059, RefSeq Protein:NP_003384, RefSeq RNA:NM_003393, UCSC Genome Browser:NM_003393, UniProtKB:Q93098 No chr10 102222812 102243399 100463055 100483642 +PA37379 7483 HGNC:12778 ENSG00000143816 Wnt family member 9A WNT9A wingless-type MMTV integration site family, member 9A WNT14 Yes No Comparative Toxicogenomics Database:7483, Ensembl:ENSG00000143816, GeneCard:WNT9A, HGNC:HGNC:12778, HumanCyc Gene:HS07111, ModBase:O14904, NCBI Gene:7483, OMIM:602863, RefSeq DNA:NT_167186, RefSeq Protein:NP_003386, RefSeq RNA:NM_003395, UCSC Genome Browser:NM_003395, UniProtKB:O14904 No chr1 228109165 228135676 227918658 227947975 +PA37380 7484 HGNC:12779 ENSG00000158955 Wnt family member 9B WNT9B wingless-type MMTV integration site family, member 9B WNT14B, WNT15 Yes No Ensembl:ENSG00000158955, GeneCard:WNT9B, HGNC:HGNC:12779, HumanCyc Gene:HS08346, NCBI Gene:7484, OMIM:602864, RefSeq DNA:NT_010783, RefSeq Protein:NP_003387, RefSeq RNA:NM_003396, UCSC Genome Browser:NM_003396, UniProtKB:O14905 No chr17 44928952 44964096 46833201 46886730 +PA164727568 55135 HGNC:25522 ENSG00000141499 WD repeat containing antisense to TP53 WRAP53 """WD repeat containing, antisense to TP53"", ""WD-encoding RNA antisense to p53"", ""telomerase cajal body protein 1""" FLJ10385, TCAB1, WDR79 Yes No Ensembl:ENSG00000141499, GeneCard:WRAP53, HGNC:HGNC:25522, HumanCyc Gene:HS13886, ModBase:Q9BUR4, NCBI Gene:55135, OMIM:612661, RefSeq DNA:NT_010718, RefSeq Protein:NP_001137462, RefSeq Protein:NP_001137463, RefSeq Protein:NP_001137464, RefSeq Protein:NP_060551, RefSeq RNA:NM_001143990, RefSeq RNA:NM_001143991, RefSeq RNA:NM_001143992, RefSeq RNA:NM_018081, UniProtKB:Q9BUR4 No chr17 7589389 7606820 7686071 7703502 +PA37363 49856 HGNC:12759 ENSG00000116213 WD repeat containing, antisense to TP73 WRAP73 WDR8 Yes No Ensembl:ENSG00000116213, GenAtlas:WDR8, GeneCard:WDR8, HGNC:HGNC:12759, HumanCyc Gene:HS12864, ModBase:Q9P2S5, NCBI Gene:49856, OMIM:606040, RefSeq DNA:NT_004350, RefSeq Protein:NP_060288, RefSeq RNA:NM_017818, UCSC Genome Browser:NM_017818, UniProtKB:Q9P2S5 No chr1 3547331 3566671 3630767 3650107 +PA367 7486 HGNC:12791 ENSG00000165392 WRN RecQ like helicase WRN """Werner syndrome RecQ like helicase"", ""Werner syndrome, RecQ helicase-like""" RECQ3, RECQL2 Yes Yes Comparative Toxicogenomics Database:7486, Ensembl:ENSG00000165392, GenAtlas:WRN, GeneCard:WRN, HGNC:HGNC:12791, HumanCyc Gene:HS09225, ModBase:Q14191, NCBI Gene:7486, OMIM:277700, OMIM:604611, RefSeq DNA:NG_008870, RefSeq DNA:NT_167187, RefSeq Protein:NP_000544, RefSeq RNA:NM_000553, UCSC Genome Browser:NM_000553, UniProtKB:Q14191, UniProtKB:Q59F09 No chr8 30890778 31031277 31033262 31173761 +PA134982239 56897 HGNC:20876 ENSG00000124535 WRN helicase interacting protein 1 WRNIP1 Werner helicase interacting protein 1 CFAP93, FAP93, FLJ22526, WHIP, bA420G6.2 Yes No Comparative Toxicogenomics Database:56897, Ensembl:ENSG00000124535, GeneCard:WRNIP1, HGNC:HGNC:20876, HumanCyc Gene:HS04789, ModBase:Q96S55, NCBI Gene:56897, OMIM:608196, RefSeq DNA:NT_007592, RefSeq Protein:NP_064520, RefSeq Protein:NP_569079, RefSeq RNA:NM_020135, RefSeq RNA:NM_130395, UniProtKB:Q96S55 No chr6 2765575 2785979 2765341 2785745 +PA134867554 26118 HGNC:19221 ENSG00000109046 WD repeat and SOCS box containing 1 WSB1 DKFZp564A122, DKFZp564B0482, SWIP1 Yes No Comparative Toxicogenomics Database:26118, Ensembl:ENSG00000109046, GeneCard:WSB1, HGNC:HGNC:19221, HumanCyc Gene:HS03187, ModBase:Q9Y6I7, NCBI Gene:26118, OMIM:610091, RefSeq DNA:NT_010799, RefSeq Protein:NP_056441, RefSeq Protein:NP_599027, RefSeq RNA:NM_015626, RefSeq RNA:NM_134265, UniProtKB:Q9Y6I7 No chr17 25621106 25640659 27294080 27313631 +PA128395787 55884 HGNC:19222 ENSG00000176871 WD repeat and SOCS box containing 2 WSB2 MGC10210, SBA2 Yes No Comparative Toxicogenomics Database:55884, Ensembl:ENSG00000176871, GeneCard:WSB2, HGNC:HGNC:19222, HumanCyc Gene:HS11092, ModBase:Q9NYS7, NCBI Gene:55884, RefSeq DNA:NT_009775, RefSeq Protein:NP_061109, RefSeq RNA:NM_018639, UCSC Genome Browser:NM_018639, UniProtKB:Q9NYS7 No chr12 118470492 118499979 118032687 118062430 +PA162409253 23302 HGNC:29060 ENSG00000179314 WSC domain containing 1 WSCD1 KIAA0523 Yes No Ensembl:ENSG00000179314, GeneCard:WSCD1, HGNC:HGNC:29060, ModBase:Q658N2, NCBI Gene:23302, RefSeq DNA:NT_010718, RefSeq Protein:NP_056068, RefSeq RNA:NM_015253, UniProtKB:Q658N2 No chr17 5972426 6027747 6069106 6124427 +PA162409276 9671 HGNC:29117 ENSG00000075035 WSC domain containing 2 WSCD2 KIAA0789 Yes No Ensembl:ENSG00000075035, GeneCard:WSCD2, HGNC:HGNC:29117, ModBase:Q2TBF2, NCBI Gene:9671, RefSeq DNA:NT_029419, RefSeq Protein:NP_055468, RefSeq RNA:NM_014653, UniProtKB:Q2TBF2 No chr12 108523511 108644314 108129343 108250537 +PA37395 7490 HGNC:12796 ENSG00000184937 WT1 transcription factor WT1 Wilms tumor 1 AWT1, GUD, NPHS4, WAGR, WIT-2, WT-1 Yes Yes Comparative Toxicogenomics Database:7490, Ensembl:ENSG00000184937, GenAtlas:WT1, GeneCard:WT1, HGNC:HGNC:12796, ModBase:P19544, NCBI Gene:7490, OMIM:136680, OMIM:194070, OMIM:194072, OMIM:194080, OMIM:256370, OMIM:607102, OMIM:608978, RefSeq DNA:NG_009272, RefSeq DNA:NT_009237, RefSeq Protein:NP_000369, RefSeq Protein:NP_001185480, RefSeq Protein:NP_001185481, RefSeq Protein:NP_077742, RefSeq Protein:NP_077743, RefSeq Protein:NP_077744, RefSeq RNA:NM_000378, RefSeq RNA:NM_001198551, RefSeq RNA:NM_001198552, RefSeq RNA:NM_024424, RefSeq RNA:NM_024425, RefSeq RNA:NM_024426, UCSC Genome Browser:NM_000378, UniProtKB:B3KSA5, UniProtKB:P19544 No chr11 32408789 32457104 32387775 32435535 +PA165543758 51352 HGNC:18135 ENSG00000183242 WT1 antisense RNA WT1-AS Wilms tumor associated protein WIT-1, WT1-AS1, WT1AS Yes No Ensembl:ENSG00000183242, GeneCard:WT1AS, HGNC:HGNC:18135, NCBI Gene:51352, OMIM:607899, RefSeq DNA:NT_009237, RefSeq Protein:NP_056939, RefSeq RNA:NM_015855, RefSeq RNA:NR_023920 No chr11 32457285 32461636 32435518 32458769 +PA134864847 9589 HGNC:16846 ENSG00000146457 WT1 associated protein WTAP Wilms tumor 1 associated protein KIAA0105, MGC3925, Mum2 Yes No Comparative Toxicogenomics Database:9589, Ensembl:ENSG00000146457, GeneCard:WTAP, HGNC:HGNC:16846, HumanCyc Gene:HS14157, ModBase:Q15007, NCBI Gene:9589, OMIM:605442, RefSeq DNA:NT_025741, RefSeq Protein:NP_004897, RefSeq Protein:NP_690596, RefSeq Protein:NP_690597, RefSeq RNA:NM_004906, RefSeq RNA:NM_152857, RefSeq RNA:NM_152858, UniProtKB:Q15007, UniProtKB:Q5TCL9 No chr6 160147712 160177351 159726680 159756319 +PA142670568 126374 HGNC:20964 ENSG00000142279 WT1 interacting protein WTIP WT1-interacting protein, Wilms tumor 1 interacting protein Yes No Ensembl:ENSG00000142279, GeneCard:WTIP, HGNC:HGNC:20964, NCBI Gene:126374, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073905, RefSeq RNA:NM_001080436 No chr19 34972880 34992085 34481935 34509147 +PA143485670 23286 HGNC:29435 ENSG00000113645 WW and C2 domain containing 1 WWC1 protein phosphatase 1, regulatory subunit 168 KIAA0869, KIBRA, PPP1R168 Yes No Comparative Toxicogenomics Database:23286, Ensembl:ENSG00000113645, GeneCard:WWC1, HGNC:HGNC:29435, ModBase:Q8IX03, NCBI Gene:23286, OMIM:610533, RefSeq DNA:NG_016712, RefSeq DNA:NT_023133, RefSeq Protein:NP_001155133, RefSeq Protein:NP_001155134, RefSeq Protein:NP_056053, RefSeq RNA:NM_001161661, RefSeq RNA:NM_001161662, RefSeq RNA:NM_015238, UniProtKB:B4DK05, UniProtKB:Q8IX03 No chr5 167719065 167899308 168292060 168472303 +PA143485671 80014 HGNC:24148 ENSG00000151718 WW and C2 domain containing 2 WWC2 BOMB, FLJ22029 Yes No Comparative Toxicogenomics Database:80014, Ensembl:ENSG00000151718, GeneCard:WWC2, HGNC:HGNC:24148, HumanCyc Gene:HS14384, ModBase:Q9H6P0, NCBI Gene:80014, RefSeq DNA:NT_016354, RefSeq Protein:NP_079225, RefSeq RNA:NM_024949, UniProtKB:Q6AWC2 No chr4 184020463 184241930 183098677 183320777 +PA162379826 152641 HGNC:26390 ENSG00000251359 WWC2 antisense RNA 2 WWC2-AS2 FLJ30277 Yes No Ensembl:ENSG00000251359, GeneCard:C4orf38, HGNC:HGNC:26390, NCBI Gene:152641, RefSeq DNA:NT_016354, RefSeq RNA:NR_024008 No chr4 184018174 184020352 183097021 183099199 +PA143485672 55841 HGNC:29237 ENSG00000047644 WWC family member 3 WWC3 BM042, KIAA1280 Yes No Ensembl:ENSG00000047644, GeneCard:WWC3, HGNC:HGNC:29237, HumanCyc Gene:HS12108, ModBase:Q9ULE0, NCBI Gene:55841, RefSeq DNA:NG_021467, RefSeq DNA:NT_167197, RefSeq Protein:NP_056506, RefSeq RNA:NM_015691, UniProtKB:Q9ULE0 No chrX 9983795 10112518 10015755 10144478 +PA37398 51741 HGNC:12799 ENSG00000186153 WW domain containing oxidoreductase WWOX short chain dehydrogenase/reductase family 41C, member 1 FOR, SDR41C1, WOX1 Yes Yes Comparative Toxicogenomics Database:51741, Ensembl:ENSG00000186153, GenAtlas:WWOX, GeneCard:WWOX, HGNC:HGNC:12799, ModBase:Q9NRF5, NCBI Gene:51741, OMIM:133239, OMIM:605131, RefSeq DNA:NG_011698, RefSeq DNA:NT_010498, RefSeq Protein:NP_057457, RefSeq Protein:NP_570607, RefSeq Protein:NP_570859, RefSeq RNA:NM_016373, RefSeq RNA:NM_130791, RefSeq RNA:NM_130844, UCSC Genome Browser:NM_016373, UniProtKB:Q9NZC7 No chr16 78133310 79246567 78099413 79212667 +PA134960138 11059 HGNC:17004 ENSG00000123124 WW domain containing E3 ubiquitin protein ligase 1 WWP1 AIP5, DKFZP434D2111 Yes No Comparative Toxicogenomics Database:11059, Ensembl:ENSG00000123124, GeneCard:WWP1, HGNC:HGNC:17004, HumanCyc Gene:HS04630, ModBase:Q9H0M0, NCBI Gene:11059, OMIM:602307, RefSeq DNA:NT_008046, RefSeq Protein:NP_008944, RefSeq RNA:NM_007013, UniProtKB:Q5YLC1, UniProtKB:Q9H0M0 No chr8 87354965 87480181 86342711 86468357 +PA134946925 11060 HGNC:16804 ENSG00000198373 WW domain containing E3 ubiquitin protein ligase 2 WWP2 atrophin-1-interacting protein 2 AIP2 Yes No Comparative Toxicogenomics Database:11060, Ensembl:ENSG00000198373, GeneCard:WWP2, HGNC:HGNC:16804, ModBase:O00308, NCBI Gene:11060, OMIM:602308, RefSeq DNA:NT_010498, RefSeq Protein:NP_008945, RefSeq Protein:NP_955455, RefSeq Protein:NP_955456, RefSeq RNA:NM_007014, RefSeq RNA:NM_199423, RefSeq RNA:NM_199424, UniProtKB:O00308, UniProtKB:Q6ZTQ5 No chr16 69796187 69975644 69762284 69941741 +PA134899667 25937 HGNC:24042 ENSG00000018408 WW domain containing transcription regulator 1 WWTR1 transcriptional coactivator with PDZ-binding motif DKFZp586I1419, TAZ Yes Yes Comparative Toxicogenomics Database:25937, Ensembl:ENSG00000018408, GeneCard:WWTR1, HGNC:HGNC:24042, HumanCyc Gene:HS00388, ModBase:Q9GZV5, NCBI Gene:25937, OMIM:607392, RefSeq DNA:NT_005612, RefSeq Protein:NP_001161750, RefSeq Protein:NP_001161752, RefSeq Protein:NP_056287, RefSeq RNA:NM_001168278, RefSeq RNA:NM_001168280, RefSeq RNA:NM_015472, UniProtKB:Q9GZV5 No chr3 149235022 149421060 149517235 149724783 +PA134905925 56949 HGNC:14089 ENSG00000076924 XPA binding protein 2 XAB2 """SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor""" HCNP, HCRN, NTC90, SYF1 Yes No Comparative Toxicogenomics Database:56949, Ensembl:ENSG00000076924, GeneCard:XAB2, HGNC:HGNC:14089, HumanCyc Gene:HS01221, ModBase:Q9HCS7, NCBI Gene:56949, OMIM:610850, RefSeq DNA:NT_077812, RefSeq Protein:NP_064581, RefSeq RNA:NM_020196, UniProtKB:Q9HCS7 No chr19 7684411 7694439 7619525 7629553 +PA162409299 54739 HGNC:30932 ENSG00000132530 XIAP associated factor 1 XAF1 BIRC4BP, HSXIAPAF1, XIAPAF1 Yes No Ensembl:ENSG00000132530, GeneCard:XAF1, HGNC:HGNC:30932, HumanCyc Gene:HS05651, ModBase:Q6GPH4, NCBI Gene:54739, OMIM:606717, RefSeq DNA:NT_010718, RefSeq Protein:NP_059993, RefSeq Protein:NP_954590, RefSeq RNA:NM_017523, RefSeq RNA:NM_199139, UniProtKB:B3KPW1, UniProtKB:Q6GPH4 No chr17 6658716 6678966 6755411 6775647 +PA162409316 653220 HGNC:4111 ENSG00000183461, ENSG00000204375, ENSG00000204376, ENSG00000204379, ENSG00000204382 X antigen family member 1A XAGE1A """X antigen family, member 1A"", ""cancer/testis antigen family 12, member 1a""" CT12.1a, GAGED2, XAGE-1, XAGE1, XAGE1B Yes No Ensembl:ENSG00000183461, Ensembl:ENSG00000204375, Ensembl:ENSG00000204376, Ensembl:ENSG00000204379, Ensembl:ENSG00000204382, GeneCard:XAGE1A, HGNC:HGNC:4111, NCBI Gene:653220, OMIM:300742, RefSeq DNA:NT_011638, RefSeq Protein:NP_001091060, RefSeq Protein:NP_001091061, RefSeq Protein:NP_001091062, RefSeq RNA:NM_001097591, RefSeq RNA:NM_001097592, RefSeq RNA:NM_001097593, RefSeq RNA:NR_033253 No chrX 52238810 52243954 52495668 52500815 +PA166352264 653067 HGNC:25400 X antigen family member 1B XAGE1B """XAGE1C"", ""XAGE1D"", ""XAGE1E"", ""cancer/testis antigen family 12, member 1b""" CT12.1b, CT12.1c, CT12.1d Yes No HGNC:HGNC:25400, NCBI Gene:653067 No 0 0 0 0 +PA28527 9502 HGNC:4112 ENSG00000155622 X antigen family member 2 XAGE2 """X antigen family, member 2"", ""cancer/testis antigen family 12, member 2""" CT12.2, GAGED3, XAGE-2, XAGE2B Yes No Ensembl:ENSG00000155622, GenAtlas:XAGE2, GeneCard:XAGE2, HGNC:HGNC:4112, HumanCyc Gene:HS14575, NCBI Gene:9502, OMIM:300416, RefSeq DNA:NT_011638, RefSeq Protein:NP_570133, RefSeq RNA:NM_130777, UCSC Genome Browser:NM_130777, UniProtKB:Q96GT9 No chrX 52111931 52118826 52368996 52375683 +PA33376 170626 HGNC:14618 ENSG00000171402 X antigen family member 3 XAGE3 """X antigen family, member 3"", ""cancer/testis antigen family 12, member 3a"", ""cancer/testis antigen family 12, member 3b""" CT12.3a, CT12.3b, GAGED4, PLAC6, XAGE-3, pp9012 Yes No Ensembl:ENSG00000171402, GenAtlas:XAGE3, GeneCard:XAGE3, HGNC:HGNC:14618, HumanCyc Gene:HS15981, ModBase:Q8WTP9, NCBI Gene:170626, OMIM:300740, RefSeq DNA:NT_011630, RefSeq Protein:NP_570132, RefSeq Protein:NP_573440, RefSeq RNA:NM_130776, RefSeq RNA:NM_133179, UCSC Genome Browser:NM_130776, UniProtKB:Q8WTP9 No chrX 52891557 52897119 52862528 52868140 +PA134961730 170627 HGNC:30930 ENSG00000171405 X antigen family member 5 XAGE5 """X antigen family, member 5"", ""cancer/testis antigen family 12, member 5""" CT12.5, GAGED5, XAGE-5 Yes No Ensembl:ENSG00000171405, GeneCard:XAGE5, HGNC:HGNC:30930, HumanCyc Gene:HS15982, ModBase:Q8WWM1, NCBI Gene:170627, RefSeq DNA:NT_011630, RefSeq Protein:NP_570131, RefSeq RNA:NM_130775, UniProtKB:Q3SY49, UniProtKB:Q8WWM1 No chrX 52840366 52847325 52811295 52818301 +PA37400 7494 HGNC:12801 ENSG00000100219 X-box binding protein 1 XBP1 XBP2 Yes Yes Comparative Toxicogenomics Database:7494, Ensembl:ENSG00000100219, GenAtlas:XBP1, GeneCard:XBP1, HGNC:HGNC:12801, HumanCyc Gene:HS02005, ModBase:P17861, NCBI Gene:7494, OMIM:125480, OMIM:194355, OMIM:612371, RefSeq DNA:NG_012266, RefSeq DNA:NT_011520, RefSeq Protein:NP_001073007, RefSeq Protein:NP_005071, RefSeq RNA:NM_001079539, RefSeq RNA:NM_005080, UCSC Genome Browser:NM_005080, UniProtKB:P17861 No chr22 29190548 29196560 28794560 28800572 +PA37401 7495 HGNC:12802 ENSG00000249947 X-box binding protein 1 pseudogene 1 XBP1P1 Yes No Ensembl:ENSG00000249947, GenAtlas:XBPP1, GeneCard:XBP1P1, HGNC:HGNC:12802, NCBI Gene:7495, RefSeq DNA:NG_003037, RefSeq DNA:NT_034772 No chr5 112220838 112222378 112885122 112886687 +PA37403 7497 HGNC:12804 X chromosome controlling element XCE Yes No GenAtlas:XCE, GeneCard:XCE, HGNC:HGNC:12804, NCBI Gene:7497, OMIM:300074 No chrX +PA35575 6375 HGNC:10645 ENSG00000143184 X-C motif chemokine ligand 1 XCL1 chemokine (C motif) ligand 1 ATAC, LPTN, LTN, SCM-1, SCM-1a, SCYC1, lymphotactin Yes No Comparative Toxicogenomics Database:6375, Ensembl:ENSG00000143184, GenAtlas:XCL1, GeneCard:XCL1, HGNC:HGNC:10645, HumanCyc Gene:HS07004, ModBase:P47992, NCBI Gene:6375, OMIM:600250, RefSeq DNA:NT_004487, RefSeq Protein:NP_002986, RefSeq RNA:NM_002995, UCSC Genome Browser:NM_002995, UniProtKB:P47992 No chr1 168545711 168551315 168574128 168582077 +PA35576 6846 HGNC:10646 ENSG00000143185 X-C motif chemokine ligand 2 XCL2 chemokine (C motif) ligand 2 SCM-1b, SCYC2 Yes No Comparative Toxicogenomics Database:6846, Ensembl:ENSG00000143185, GenAtlas:XCL2, GeneCard:XCL2, HGNC:HGNC:10646, HumanCyc Gene:HS07005, ModBase:Q9UBD3, NCBI Gene:6846, OMIM:604828, RefSeq DNA:NT_004487, RefSeq Protein:NP_003166, RefSeq RNA:NM_003175, UCSC Genome Browser:NM_003175, UniProtKB:Q9UBD3 No chr1 168510003 168513235 168540765 168543997 +PA35037 2829 HGNC:1625 ENSG00000173578 X-C motif chemokine receptor 1 XCR1 chemokine (C motif) receptor 1 CCXCR1, GPR5 Yes No Comparative Toxicogenomics Database:2829, Ensembl:ENSG00000173578, GenAtlas:XCR1, GeneCard:XCR1, HGNC:HGNC:1625, HumanCyc Gene:HS10693, IUPHAR Receptor:75, ModBase:P46094, NCBI Gene:2829, OMIM:600552, RefSeq DNA:NT_022517, RefSeq Protein:NP_001019815, RefSeq Protein:NP_005274, RefSeq RNA:NM_001024644, RefSeq RNA:NM_005283, UCSC Genome Browser:NM_005283, UniProtKB:P46094, UniProtKB:Q502V0, UniProtKB:Q689E2 No chr3 46062291 46068979 46016990 46086803 +PA37404 7498 HGNC:12805 ENSG00000158125 xanthine dehydrogenase XDH xanthine oxidase XO, XOR Yes Yes Comparative Toxicogenomics Database:7498, Ensembl:ENSG00000158125, GenAtlas:XDH, GeneCard:XDH, HGNC:HGNC:12805, HumanCyc Gene:HS08270, ModBase:P47989, NCBI Gene:7498, OMIM:278300, OMIM:607633, RefSeq DNA:NG_008871, RefSeq DNA:NT_022184, RefSeq Protein:NP_000370, RefSeq RNA:NM_000379, UCSC Genome Browser:NM_000379, UniProtKB:P47989 No chr2 31557188 31637611 31334320 31414777 +PA37405 7499 HGNC:12806 ENSG00000124343 Xg glycoprotein (Xg blood group) XG Xg blood group PBDX Yes No Ensembl:ENSG00000124343, GenAtlas:XG, GeneCard:XG, HGNC:HGNC:12806, HumanCyc Gene:HS04761, ModBase:P55808, NCBI Gene:7499, OMIM:314700, RefSeq DNA:NG_011627, RefSeq DNA:NT_167197, RefSeq Protein:NP_001135391, RefSeq Protein:NP_001135392, RefSeq Protein:NP_780778, RefSeq RNA:NM_001141919, RefSeq RNA:NM_001141920, RefSeq RNA:NM_175569, UCSC Genome Browser:NM_175569, UniProtKB:B4E289, UniProtKB:P55808 No chrX 2670069 2734541 2751108 2816500 +PA25361 331 HGNC:592 ENSG00000101966 X-linked inhibitor of apoptosis XIAP """IAP-like protein 1"", ""X-linked inhibitor of apoptosis"", ""X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase""" API3, BIRC4, ILP-1, hILP Yes No Comparative Toxicogenomics Database:331, Ensembl:ENSG00000101966, GenAtlas:BIRC4, GeneCard:BIRC4, GeneCard:XIAP, HGNC:HGNC:592, HumanCyc Gene:HS02325, NCBI Gene:331, OMIM:300079, OMIM:300635, RefSeq DNA:NG_007264, RefSeq DNA:NT_011786, RefSeq Protein:NP_001158, RefSeq Protein:NP_001191330, RefSeq RNA:NM_001167, RefSeq RNA:NM_001204401, RefSeq RNA:NR_037916, UCSC Genome Browser:NM_001167, UniProtKB:P98170 No chrX 122993662 123047829 123859812 123913979 +PA37408 7502 HGNC:12809 X chromosome inactivation center XIC Yes No GenAtlas:XIC, GeneCard:XIC, HGNC:HGNC:12809, NCBI Gene:7502 No chrX +PA162409336 165904 HGNC:14301 ENSG00000168334 xin actin binding repeat containing 1 XIRP1 xin actin-binding repeat containing 1 CMYA1, DKFZp451D042, Xin Yes No Ensembl:ENSG00000168334, GeneCard:XIRP1, HGNC:HGNC:14301, ModBase:Q8N904, NCBI Gene:165904, OMIM:609777, RefSeq DNA:NT_022517, RefSeq Protein:NP_001185550, RefSeq Protein:NP_919269, RefSeq RNA:NM_001198621, RefSeq RNA:NM_194293, UniProtKB:Q702N8 No chr3 39224706 39234112 39183214 39192621 +PA162409337 129446 HGNC:14303 ENSG00000163092 xin actin binding repeat containing 2 XIRP2 myomaxin, xin actin-binding repeat containing 2 CMYA3 Yes Yes Ensembl:ENSG00000163092, GeneCard:XIRP2, HGNC:HGNC:14303, HumanCyc Gene:HS15020, NCBI Gene:129446, OMIM:609778, RefSeq DNA:NT_005403, RefSeq Protein:NP_001073278, RefSeq Protein:NP_001186072, RefSeq Protein:NP_001186073, RefSeq Protein:NP_001186074, RefSeq Protein:NP_689594, RefSeq RNA:NM_001079810, RefSeq RNA:NM_001199143, RefSeq RNA:NM_001199144, RefSeq RNA:NM_001199145, RefSeq RNA:NM_152381, UniProtKB:A4UGR9 No chr2 167744997 168116263 166888487 167259753 +PA37409 7503 HGNC:12810 ENSG00000229807 X inactive specific transcript (non-protein coding) XIST long intergenic non-protein coding RNA 1 DXS1089, LINC00001, NCRNA00001, swd66 Yes No Comparative Toxicogenomics Database:7503, Ensembl:ENSG00000229807, GenAtlas:XIST, GeneCard:XIST, HGNC:HGNC:12810, NCBI Gene:7503, OMIM:300087, OMIM:314670, RefSeq DNA:NG_016172, RefSeq DNA:NT_011669, RefSeq RNA:NR_001564 No chrX 73040486 73072588 73820651 73852753 +PA37410 7504 HGNC:12811 ENSG00000047597 X-linked Kx blood group antigen, Kell and VPS13A binding protein XK Kx antigen, McLeod syndrome, X-linked Kx blood group, X-linked Kx blood group (McLeod syndrome) Kx, NA, NAC, X1k, XKR1 Yes No Comparative Toxicogenomics Database:7504, Ensembl:ENSG00000047597, GenAtlas:XK, GeneCard:XK, HGNC:HGNC:12811, HumanCyc Gene:HS00592, ModBase:P51811, NCBI Gene:7504, OMIM:314850, RefSeq DNA:NG_007473, RefSeq DNA:NT_079573, RefSeq Protein:NP_066569, RefSeq RNA:NM_021083, UCSC Genome Browser:NM_021083, UniProtKB:P51811 No chrX 37545133 37591383 37685766 37732130 +PA142670562 150165 HGNC:28778 ENSG00000172967 XK related 3 XKR3 XK, Kell blood group complex subunit-related family, member 3 MGC57211, XTES Yes No Ensembl:ENSG00000172967, GeneCard:XKR3, HGNC:HGNC:28778, ModBase:Q5GH77, NCBI Gene:150165, OMIM:611674, RefSeq DNA:NT_011519, RefSeq Protein:NP_787074, RefSeq RNA:NM_175878, UniProtKB:Q5GH77 No chr22 17264302 17302584 16783412 16825412 +PA142670563 114786 HGNC:29394 ENSG00000206579 XK related 4 XKR4 XK, Kell blood group complex subunit-related family, member 4 KIAA1889 Yes No Ensembl:ENSG00000206579, GeneCard:XKR4, HGNC:HGNC:29394, ModBase:Q5GH76, NCBI Gene:114786, RefSeq DNA:NT_008183, RefSeq Protein:NP_443130, RefSeq RNA:NM_052898, UniProtKB:Q5GH76 No chr8 56015017 56438714 55102457 55526155 +PA142670564 389610 HGNC:20782 ENSG00000275591 XK related 5 XKR5 XK, Kell blood group complex subunit-related family, member 5 Yes No Ensembl:ENSG00000275591, GeneCard:XKR5, HGNC:HGNC:20782, NCBI Gene:389610, RefSeq DNA:NT_023736, RefSeq Protein:NP_997294, RefSeq RNA:NM_207411, UniProtKB:Q6UX68 No chr8 6666038 6693166 6808517 6835644 +PA134922549 286046 HGNC:27806 ENSG00000171044 XK related 6 XKR6 XK, Kell blood group complex subunit-related family, member 6 C8orf21, C8orf5, C8orf7 Yes No Ensembl:ENSG00000171044, GeneCard:XKR6, HGNC:HGNC:27806, HumanCyc Gene:HS15943, ModBase:Q5GH73, NCBI Gene:286046, RefSeq DNA:NT_077531, RefSeq Protein:NP_775954, RefSeq RNA:NM_173683, UniProtKB:Q5GH73 No chr8 10753654 11058875 10896144 11205789 +PA142670565 343702 HGNC:23062 ENSG00000260903 XK related 7 XKR7 XK, Kell blood group complex subunit-related family, member 7 C20orf159, dJ310O13.4 Yes No Ensembl:ENSG00000260903, GeneCard:XKR7, HGNC:HGNC:23062, ModBase:Q5GH72, NCBI Gene:343702, RefSeq DNA:NT_011362, RefSeq Protein:NP_001011718, RefSeq RNA:NM_001011718, UniProtKB:Q5GH72 No chr20 30555805 30586256 31968002 31998453 +PA142670566 55113 HGNC:25508 ENSG00000158156 XK related 8 XKR8 XK, Kell blood group complex subunit-related family, member 8 FLJ10307 Yes No Comparative Toxicogenomics Database:55113, Ensembl:ENSG00000158156, GeneCard:XKR8, HGNC:HGNC:25508, HumanCyc Gene:HS14700, ModBase:Q9H6D3, NCBI Gene:55113, RefSeq DNA:NT_004610, RefSeq Protein:NP_060523, RefSeq RNA:NM_018053, UniProtKB:Q9H6D3 No chr1 28286504 28294604 27959462 27968096 +PA142670567 389668 HGNC:20937 ENSG00000221947 XK related 9 XKR9 XK, Kell blood group complex subunit-related family, member 9 Yes No Ensembl:ENSG00000221947, GeneCard:XKR9, HGNC:HGNC:20937, ModBase:Q5GH70, NCBI Gene:389668, RefSeq DNA:NT_008183, RefSeq Protein:NP_001011720, RefSeq RNA:NM_001011720, UniProtKB:Q5GH70 No chr8 71581600 71648177 70669365 71066635 +PA134962569 402415 HGNC:29845 ENSG00000182489 XK related X-linked XKRX XK, Kell blood group complex subunit-related, X-linked XKR2, XPLAC Yes No Ensembl:ENSG00000182489, GeneCard:XKRX, HGNC:HGNC:29845, NCBI Gene:402415, OMIM:300684, RefSeq DNA:NG_021224, RefSeq DNA:NT_011651, RefSeq Protein:NP_997724, RefSeq RNA:NM_212559, UniProtKB:Q6PP77 No chrX 100168431 100184422 100886924 100957401 +PA38583 9082 HGNC:18571 ENSG00000250868 XK, Kell blood group complex subunit-related, Y-linked XKRY XKRY1 Yes No Ensembl:ENSG00000250868, GenAtlas:XKRY, GeneCard:XKRY, HGNC:HGNC:18571, NCBI Gene:9082, OMIM:400015, RefSeq DNA:NT_011875, RefSeq Protein:NP_004668, RefSeq RNA:NR_171026, UCSC Genome Browser:NM_004677, UniProtKB:A2RUG3, UniProtKB:O14609 No chrY 19880860 19882440 17768980 17770560 +PA134879643 353515 HGNC:23922 ENSG00000244646 XK, Kell blood group complex subunit-related, Y-linked 2 XKRY2 Yes No Ensembl:ENSG00000244646, GeneCard:XKRY2, HGNC:HGNC:23922, NCBI Gene:353515, RefSeq DNA:NT_011875, RefSeq Protein:NP_001002906, RefSeq RNA:NR_171027 No chrY 20297335 20298915 18135449 18137029 +PA134869486 379028 HGNC:23908 ENSG00000238067 XK, Kell blood group complex subunit-related, Y-linked pseudogene 1 XKRYP1 Yes No Ensembl:ENSG00000238067, GeneCard:XKRYP1, HGNC:HGNC:23908, NCBI Gene:379028, RefSeq DNA:NT_011875 No chrY 20669698 20671494 18507812 18509608 +PA134991265 379029 HGNC:23909 ENSG00000230904 XK, Kell blood group complex subunit-related, Y-linked pseudogene 2 XKRYP2 Yes No Ensembl:ENSG00000230904, GeneCard:XKRYP2, HGNC:HGNC:23909, NCBI Gene:379029, RefSeq DNA:NT_011875 No chrY 20972684 20974480 18810798 18812594 +PA134968685 379030 HGNC:23910 ENSG00000236620 XK, Kell blood group complex subunit-related, Y-linked pseudogene 3 XKRYP3 Yes No Ensembl:ENSG00000236620, GeneCard:XKRYP3, HGNC:HGNC:23910, NCBI Gene:379030, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 25861834 25863632 23715687 23717485 +PA134904906 379031 HGNC:23911 ENSG00000231026 XK, Kell blood group complex subunit-related, Y-linked pseudogene 4 XKRYP4 Yes No Ensembl:ENSG00000231026, GeneCard:XKRYP4, HGNC:HGNC:23911, NCBI Gene:379031, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 26062843 26064641 23916696 23918494 +PA134982816 379032 HGNC:23912 ENSG00000223406 XK, Kell blood group complex subunit-related, Y-linked pseudogene 5 XKRYP5 Yes No Ensembl:ENSG00000223406, GeneCard:XKRYP5, HGNC:HGNC:23912, NCBI Gene:379032, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 27897764 27899562 25751617 25753415 +PA134958914 379033 HGNC:23913 ENSG00000237546 XK, Kell blood group complex subunit-related, Y-linked pseudogene 6 XKRYP6 Yes No Ensembl:ENSG00000237546, GeneCard:XKRYP6, HGNC:HGNC:23913, NCBI Gene:379033, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 28098737 28100534 25952590 25954387 +PA166352265 100133315 HGNC:54661 XRCC1 N-terminal domain containing 1, N-terminal like XNDC1N Yes No HGNC:HGNC:54661, NCBI Gene:100133315 No 0 0 0 0 +PA368 7507 HGNC:12814 ENSG00000136936 XPA, DNA damage recognition and repair factor XPA xeroderma pigmentosum, complementation group A XP1, XPAC Yes Yes Comparative Toxicogenomics Database:7507, Ensembl:ENSG00000136936, GenAtlas:XPA, GeneCard:XPA, HGNC:HGNC:12814, HumanCyc Gene:HS06250, ModBase:P23025, NCBI Gene:7507, OMIM:278700, OMIM:611153, RefSeq DNA:NG_011642, RefSeq DNA:NT_008470, RefSeq Protein:NP_000371, RefSeq RNA:NM_000380, RefSeq RNA:NR_027302, UCSC Genome Browser:NM_000380, UniProtKB:P23025 No chr9 100437191 100459691 97654398 97697409 +PA37413 7508 HGNC:12816 ENSG00000154767 XPC complex subunit, DNA damage recognition and repair factor XPC """xeroderma pigmentosum group C protein"", ""xeroderma pigmentosum, complementation group C""" RAD4, XPCC Yes Yes Comparative Toxicogenomics Database:7508, Ensembl:ENSG00000154767, GenAtlas:XPC, GeneCard:XPC, HGNC:HGNC:12816, HumanCyc Gene:HS08009, NCBI Gene:7508, OMIM:278720, OMIM:613208, RefSeq DNA:NG_011763, RefSeq DNA:NT_022517, RefSeq Protein:NP_001139241, RefSeq Protein:NP_004619, RefSeq RNA:NM_001145769, RefSeq RNA:NM_004628, RefSeq RNA:NR_027299, UCSC Genome Browser:NM_004628, UniProtKB:B4DIP3, UniProtKB:Q01831 No chr3 14186647 14220172 14145147 14178672 +PA37415 7511 HGNC:12822 ENSG00000108039 X-prolyl aminopeptidase 1 XPNPEP1 """X-prolyl aminopeptidase (aminopeptidase P) 1, soluble"", ""Xaa-Pro aminopeptidase 1""" XPNPEP, XPNPEPL, XPNPEPL1 Yes No Comparative Toxicogenomics Database:7511, Ensembl:ENSG00000108039, GenAtlas:XPNPEP1, GeneCard:XPNPEP1, HGNC:HGNC:12822, HumanCyc Gene:HS03058, ModBase:Q9NQW7, NCBI Gene:7511, OMIM:602443, RefSeq DNA:NT_030059, RefSeq Protein:NP_001161076, RefSeq Protein:NP_065116, RefSeq RNA:NM_001167604, RefSeq RNA:NM_020383, RefSeq RNA:NR_030724, UCSC Genome Browser:NM_006523, UCSC Genome Browser:NM_020383, UniProtKB:Q9NQW7 No chr10 111624524 111683311 109864766 109923553 +PA37416 7512 HGNC:12823 ENSG00000122121 X-prolyl aminopeptidase 2 XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound Yes Yes Ensembl:ENSG00000122121, GenAtlas:XPNPEP2, GeneCard:XPNPEP2, HGNC:HGNC:12823, HumanCyc Gene:HS04545, ModBase:O43895, NCBI Gene:7512, OMIM:300145, RefSeq DNA:NG_011479, RefSeq DNA:NT_011786, RefSeq Protein:NP_003390, RefSeq RNA:NM_003399, UCSC Genome Browser:NM_003399, UniProtKB:O43895 No chrX 128872946 128903525 129738970 129769549 +PA147357130 63929 HGNC:28052 ENSG00000196236 X-prolyl aminopeptidase 3 XPNPEP3 """Intermediate Cleaving Peptidase 55"", ""X-prolyl aminopeptidase (aminopeptidase P) 3, putative""" APP3, ICP55, NPHPL1 Yes No Ensembl:ENSG00000196236, GeneCard:XPNPEP3, HGNC:HGNC:28052, HumanCyc Gene:HS02068, ModBase:Q9NQH7, NCBI Gene:63929, RefSeq DNA:NT_011520, RefSeq Protein:NP_001191756, RefSeq Protein:NP_071381, RefSeq RNA:NM_001204827, RefSeq RNA:NM_022098, UniProtKB:Q9NQH7 No chr22 41253085 41328823 40857081 40932819 +PA37418 7514 HGNC:12825 ENSG00000082898 exportin 1 XPO1 """chromosome region maintenance 1 homolog (yeast)"", ""exportin 1 (CRM1 homolog, yeast)""" CRM-1, CRM1, emb Yes Yes Comparative Toxicogenomics Database:7514, Ensembl:ENSG00000082898, GenAtlas:XPO1, GeneCard:XPO1, HGNC:HGNC:12825, HumanCyc Gene:HS01431, ModBase:O14980, NCBI Gene:7514, OMIM:602559, RefSeq DNA:NT_022184, RefSeq Protein:NP_003391, RefSeq RNA:NM_003400, UCSC Genome Browser:NM_003400, UniProtKB:B3KWD0, UniProtKB:O14980 No chr2 61705069 61765440 61477934 61538522 +PA134866468 64328 HGNC:17796 ENSG00000132953 exportin 4 XPO4 FLJ13046, KIAA1721 Yes No Comparative Toxicogenomics Database:64328, Ensembl:ENSG00000132953, GeneCard:XPO4, HGNC:HGNC:17796, HumanCyc Gene:HS05711, ModBase:Q9C0E2, NCBI Gene:64328, OMIM:611449, RefSeq DNA:NT_024524, RefSeq Protein:NP_071904, RefSeq RNA:NM_022459, UniProtKB:Q9C0E2 No chr13 21351468 21476913 20777329 20902774 +PA134979214 57510 HGNC:17675 ENSG00000124571 exportin 5 XPO5 KIAA1291 Yes Yes Ensembl:ENSG00000124571, GeneCard:XPO5, HGNC:HGNC:17675, HumanCyc Gene:HS13136, ModBase:Q9NW39, NCBI Gene:57510, OMIM:607845, RefSeq DNA:NT_007592, RefSeq Protein:NP_065801, RefSeq RNA:NM_020750, UniProtKB:Q9HAV4 No chr6 43490068 43543812 43522330 43576075 +PA134989996 23214 HGNC:19733 ENSG00000169180 exportin 6 XPO6 FLJ22519, KIAA0370, RANBP20 Yes No Comparative Toxicogenomics Database:23214, Ensembl:ENSG00000169180, GeneCard:XPO6, HGNC:HGNC:19733, ModBase:Q96QU8, NCBI Gene:23214, OMIM:608411, RefSeq DNA:NT_010393, RefSeq Protein:NP_055986, RefSeq RNA:NM_015171, UniProtKB:Q96QU8 No chr16 28109297 28223281 28097976 28211918 +PA34207 23039 HGNC:14108 ENSG00000130227 exportin 7 XPO7 EXP7, KIAA0745, RANBP16 Yes No Ensembl:ENSG00000130227, GeneCard:XPO7, HGNC:HGNC:14108, HumanCyc Gene:HS05357, ModBase:Q9UIA9, NCBI Gene:23039, OMIM:606140, RefSeq DNA:NT_167187, RefSeq Protein:NP_001093631, RefSeq Protein:NP_001093632, RefSeq Protein:NP_055839, RefSeq RNA:NM_001100161, RefSeq RNA:NM_001100162, RefSeq RNA:NM_015024, UCSC Genome Browser:NM_015024, UniProtKB:Q9UIA9 No chr8 21777180 21864096 21919669 22006585 +PA37419 11260 HGNC:12826 ENSG00000184575 exportin for tRNA XPOT exportin, tRNA XPO3 Yes No Comparative Toxicogenomics Database:11260, Ensembl:ENSG00000184575, GenAtlas:XPOT, GeneCard:XPOT, HGNC:HGNC:12826, ModBase:O43592, NCBI Gene:11260, OMIM:603180, RefSeq DNA:NT_029419, RefSeq Protein:NP_009166, RefSeq RNA:NM_007235, UCSC Genome Browser:NM_007235, UniProtKB:O43592 No chr12 64798153 64842464 64404350 64451125 +PA38169 170559 HGNC:16586 ENSG00000214185 exportin, tRNA (nuclear export receptor for tRNAs) pseudogene 1 XPOTP1 XPO3P1, dJ785G19.1 Yes No Ensembl:ENSG00000214185, GenAtlas:XPOTP1, GeneCard:XPOTP1, HGNC:HGNC:16586, NCBI Gene:170559, RefSeq DNA:NG_001062, RefSeq DNA:NT_011362 No chr20 32801101 32803699 34213486 34216093 +PA37420 9213 HGNC:12827 ENSG00000143324 xenotropic and polytropic retrovirus receptor 1 XPR1 solute carrier family 53 (phosphate exporter), member 1 SLC53A1, SYG1, X3 Yes No Ensembl:ENSG00000143324, GenAtlas:XPR1, GeneCard:XPR1, HGNC:HGNC:12827, HumanCyc Gene:HS07028, ModBase:Q9UBH6, NCBI Gene:9213, OMIM:605237, RefSeq DNA:NT_004487, RefSeq Protein:NP_001129141, RefSeq Protein:NP_004727, RefSeq RNA:NM_001135669, RefSeq RNA:NM_004736, UCSC Genome Browser:NM_004736, UniProtKB:Q9UBH6 No chr1 180601146 180859415 180632010 180890279 +PA369 7515 HGNC:12828 ENSG00000073050 X-ray repair cross complementing 1 XRCC1 DNA repair protein XRCC1, X-ray repair complementing defective repair in Chinese hamster cells 1 RCC Yes Yes Comparative Toxicogenomics Database:7515, Ensembl:ENSG00000073050, GenAtlas:XRCC1, GeneCard:XRCC1, HGNC:HGNC:12828, HumanCyc Gene:HS01092, ModBase:P18887, NCBI Gene:7515, OMIM:194360, RefSeq DNA:NT_011109, RefSeq Protein:NP_006288, RefSeq RNA:NM_006297, UCSC Genome Browser:NM_006297, UniProtKB:B2RCY5, UniProtKB:P18887, UniProtKB:Q59HH7 No chr19 44047464 44079730 43543312 43575578 +PA37421 7516 HGNC:12829 ENSG00000196584 X-ray repair cross complementing 2 XRCC2 DNA repair protein XRCC2, RAD51-like, X-ray repair complementing defective repair in Chinese hamster cells 2 FANCU Yes No Comparative Toxicogenomics Database:7516, Ensembl:ENSG00000196584, GenAtlas:XRCC2, GeneCard:XRCC2, HGNC:HGNC:12829, ModBase:O43543, NCBI Gene:7516, OMIM:600375, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_005422, RefSeq RNA:NM_005431, UCSC Genome Browser:NM_005431, UniProtKB:O43543 No chr7 152343583 152373250 152646498 152676165 +PA37422 7517 HGNC:12830 ENSG00000126215 X-ray repair cross complementing 3 XRCC3 DNA repair protein XRCC3, RAD51-like, X-ray repair complementing defective repair in Chinese hamster cells 3 Yes Yes Comparative Toxicogenomics Database:7517, Ensembl:ENSG00000126215, GenAtlas:XRCC3, GeneCard:XRCC3, HGNC:HGNC:12830, HumanCyc Gene:HS04997, ModBase:O43542, NCBI Gene:7517, OMIM:600675, RefSeq DNA:NG_011516, RefSeq DNA:NT_026437, RefSeq Protein:NP_001093588, RefSeq Protein:NP_001093589, RefSeq Protein:NP_005423, RefSeq RNA:NM_001100118, RefSeq RNA:NM_001100119, RefSeq RNA:NM_005432, UCSC Genome Browser:NM_005432, UniProtKB:O43542, UniProtKB:Q53XC8 No chr14 104163945 104181823 103697611 103715486 +PA37423 7518 HGNC:12831 ENSG00000152422 X-ray repair cross complementing 4 XRCC4 """DNA repair protein XRCC4"", ""X-ray repair complementing defective repair in Chinese hamster cells 4"", ""X-ray repair, complementing defective, repair in Chinese hamster""" hXRCC4 Yes Yes Comparative Toxicogenomics Database:7518, Ensembl:ENSG00000152422, GenAtlas:XRCC4, GeneCard:XRCC4, HGNC:HGNC:12831, HumanCyc Gene:HS07812, ModBase:Q13426, NCBI Gene:7518, OMIM:194363, RefSeq DNA:NT_006713, RefSeq Protein:NP_003392, RefSeq Protein:NP_071801, RefSeq Protein:NP_072044, RefSeq RNA:NM_003401, RefSeq RNA:NM_022406, RefSeq RNA:NM_022550, UCSC Genome Browser:NM_003401, UniProtKB:Q13426, UniProtKB:Q7Z763 No chr5 82373317 82649579 83077409 83370333 +PA37425 7520 HGNC:12833 ENSG00000079246 X-ray repair cross complementing 5 XRCC5 """Ku autoantigen, 80kDa"", ""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)""" KARP-1, KU80, KUB2, Ku86 Yes Yes Comparative Toxicogenomics Database:7520, Ensembl:ENSG00000079246, GenAtlas:XRCC5, GeneCard:XRCC5, HGNC:HGNC:12833, HumanCyc Gene:HS01316, ModBase:P13010, NCBI Gene:7520, OMIM:194364, RefSeq DNA:NT_005403, RefSeq Protein:NP_066964, RefSeq RNA:NM_021141, UCSC Genome Browser:NM_021141, UniProtKB:P13010 No chr2 216972381 217071016 216109297 216206293 +PA28467 2547 HGNC:4055 ENSG00000196419 X-ray repair cross complementing 6 XRCC6 """Ku autoantigen, 70kDa"", ""X-ray repair complementing defective repair in Chinese hamster cells 6""" D22S671, D22S731, G22P1, KU70, ML8 Yes No Comparative Toxicogenomics Database:2547, Ensembl:ENSG00000196419, GenAtlas:XRCC6, GeneCard:XRCC6, HGNC:HGNC:4055, ModBase:P12956, NCBI Gene:2547, OMIM:152690, RefSeq DNA:NT_011520, RefSeq Protein:NP_001460, RefSeq RNA:NM_001469, UCSC Genome Browser:NM_001469, UniProtKB:B1AHC8, UniProtKB:P12956 No chr22 42017250 42060052 41621163 41664048 +PA166352266 HGNC:32439 XRCC6 binding protein 2 XRCC6BP2 Ku70 binding protein 4 KUB4 Yes No HGNC:HGNC:32439 No 0 0 0 0 +PA134878471 54464 HGNC:30654 ENSG00000114127 5'-3' exoribonuclease 1 XRN1 SEP1 Yes No Ensembl:ENSG00000114127, GeneCard:XRN1, HGNC:HGNC:30654, ModBase:Q8IZH2, NCBI Gene:54464, OMIM:607994, RefSeq DNA:NT_005612, RefSeq Protein:NP_001036069, RefSeq Protein:NP_061874, RefSeq RNA:NM_001042604, RefSeq RNA:NM_019001, UniProtKB:Q8IZH2 No chr3 142025449 142166904 142306607 142448062 +PA37427 22803 HGNC:12836 ENSG00000088930 5'-3' exoribonuclease 2 XRN2 Yes No Comparative Toxicogenomics Database:22803, Ensembl:ENSG00000088930, GenAtlas:XRN2, GeneCard:XRN2, HGNC:HGNC:12836, HumanCyc Gene:HS01618, ModBase:Q9H0D6, NCBI Gene:22803, OMIM:608851, RefSeq DNA:NT_011387, RefSeq Protein:NP_036387, RefSeq RNA:NM_012255, UCSC Genome Browser:NM_012255, UniProtKB:Q9H0D6 No chr20 21283942 21370463 21303284 21389825 +PA134988069 143570 HGNC:18868 ENSG00000166435 X-ray radiation resistance associated 1 XRRA1 FLJ00225 Yes No Ensembl:ENSG00000166435, GeneCard:XRRA1, HGNC:HGNC:18868, ModBase:Q6P2D8, NCBI Gene:143570, OMIM:609788, RefSeq DNA:NT_167190, RefSeq Protein:NP_892014, RefSeq RNA:NM_182969, UniProtKB:Q6P2D8, UniProtKB:Q8TEH2 No chr11 74550655 74660232 74840910 74949187 +PA134925222 152002 HGNC:26639 ENSG00000173950 xyloside xylosyltransferase 1 XXYLT1 C3orf21, FLJ35155 Yes No Ensembl:ENSG00000173950, GeneCard:C3orf21, HGNC:HGNC:26639, HumanCyc Gene:HS10752, ModBase:Q8NBI6, NCBI Gene:152002, RefSeq DNA:NT_029928, RefSeq Protein:NP_689744, RefSeq RNA:NM_152531, UniProtKB:Q8NBI6 No chr3 194789008 194991895 195068276 195271166 +PA37430 9942 HGNC:12839 ENSG00000093217 xylulokinase XYLB D-xylulokinase, xylulokinase homolog (H. influenzae), xylulose kinase FLJ10343, FLJ12539 Yes No Comparative Toxicogenomics Database:9942, Ensembl:ENSG00000093217, GenAtlas:XYLB, GeneCard:XYLB, HGNC:HGNC:12839, HumanCyc Gene:HS01797, ModBase:O75191, NCBI Gene:9942, OMIM:604049, RefSeq DNA:NT_022517, RefSeq Protein:NP_005099, RefSeq RNA:NM_005108, UCSC Genome Browser:NM_005108, UniProtKB:O75191 No chr3 38388251 38456467 38346760 38453041 +PA37973 64131 HGNC:15516 ENSG00000103489 xylosyltransferase 1 XYLT1 protein xylosyltransferase 1, xylosyltransferase I PXYLT1, XT-I Yes No Comparative Toxicogenomics Database:64131, Ensembl:ENSG00000103489, GenAtlas:XYLT1, GeneCard:XYLT1, HGNC:HGNC:15516, HumanCyc Gene:HS02509, ModBase:Q86Y38, NCBI Gene:64131, OMIM:264800, OMIM:608124, RefSeq DNA:NG_015843, RefSeq DNA:NT_010393, RefSeq Protein:NP_071449, RefSeq RNA:NM_022166, UCSC Genome Browser:NM_022166, UniProtKB:Q86Y38 No chr16 17196181 17564738 17102324 17470934 +PA37974 64132 HGNC:15517 ENSG00000015532 xylosyltransferase 2 XYLT2 protein xylosyltransferase 2, xylosyltransferase II PXYLT2, XT-II Yes Yes Comparative Toxicogenomics Database:64132, Ensembl:ENSG00000015532, GenAtlas:XYLT2, GeneCard:XYLT2, HGNC:HGNC:15517, HumanCyc Gene:HS00371, ModBase:Q9H1B5, NCBI Gene:64132, OMIM:264800, OMIM:608125, RefSeq DNA:NG_012175, RefSeq DNA:NT_010783, RefSeq Protein:NP_071450, RefSeq RNA:NM_022167, UCSC Genome Browser:NM_022167, UniProtKB:Q9H1B5 No chr17 48423393 48440512 50346032 50361185 +PA134961882 57002 HGNC:24857 ENSG00000241127 YAE1 maturation factor of ABCE1 YAE1 """YAE1, ABCE1 maturation factor"", ""Yae1 domain containing 1""" C7orf36, CIAB2, GK003, YAE1D1 Yes No Ensembl:ENSG00000241127, GeneCard:C7orf36, HGNC:HGNC:24857, HumanCyc Gene:HS12634, ModBase:Q9NRH1, NCBI Gene:57002, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_064577, RefSeq RNA:NM_020192, UniProtKB:B2RC46, UniProtKB:Q9NRH1 No chr7 39605984 39651681 39566376 39612089 +PA38236 10138 HGNC:17363 ENSG00000015153 YY1 associated factor 2 YAF2 Yes No Ensembl:ENSG00000015153, GenAtlas:YAF2, GeneCard:YAF2, HGNC:HGNC:17363, HumanCyc Gene:HS00364, ModBase:Q8IY57, NCBI Gene:10138, OMIM:607534, RefSeq DNA:NT_029419, RefSeq Protein:NP_001177906, RefSeq Protein:NP_001177908, RefSeq Protein:NP_001177909, RefSeq Protein:NP_005739, RefSeq RNA:NM_001190977, RefSeq RNA:NM_001190979, RefSeq RNA:NM_001190980, RefSeq RNA:NM_005748, RefSeq RNA:NR_034000, UCSC Genome Browser:NM_005748, UniProtKB:Q8IY57 No chr12 42550906 42632154 42157104 42238368 +PA38103 10413 HGNC:16262 ENSG00000137693 Yes1 associated transcriptional regulator YAP1 Yes associated protein 1, Yes-associated protein 1 YAP-1, YAP65 Yes Yes Ensembl:ENSG00000137693, GenAtlas:YAP1, GeneCard:YAP1, HGNC:HGNC:16262, HumanCyc Gene:HS06374, ModBase:P46937, NCBI Gene:10413, OMIM:606608, RefSeq DNA:NT_033899, RefSeq Protein:NP_001123617, RefSeq Protein:NP_001181973, RefSeq Protein:NP_001181974, RefSeq Protein:NP_006097, RefSeq RNA:NM_001130145, RefSeq RNA:NM_001195044, RefSeq RNA:NM_001195045, RefSeq RNA:NM_006106, UCSC Genome Browser:NM_006106, UniProtKB:P46937 No chr11 101981151 102104154 102109957 102233423 +PA37431 8565 HGNC:12840 tyrosyl-tRNA synthetase 1 YARS1 """tyrosine tRNA ligase 1, cytoplasmic"", ""tyrosyl-tRNA synthetase""" YARS, YRS, YTS, tyrRS Yes No Comparative Toxicogenomics Database:8565, GenAtlas:YARS, GeneCard:YARS, HGNC:HGNC:12840, HumanCyc Gene:HS05899, ModBase:P54577, NCBI Gene:8565, OMIM:603623, OMIM:608323, RefSeq DNA:NG_008408, RefSeq DNA:NT_032977, RefSeq Protein:NP_003671, RefSeq RNA:NM_003680, UCSC Genome Browser:NM_003680, UniProtKB:P54577 No chr1 33240840 33283633 32775237 32818032 +PA142670559 51067 HGNC:24249 ENSG00000139131 tyrosyl-tRNA synthetase 2 YARS2 """tyrosine tRNA ligase 2, mitochondrial"", ""tyrosyl-tRNA synthetase 2, mitochondrial""" CGI-04, FLJ13995, mt-TyrRS Yes No Comparative Toxicogenomics Database:51067, Ensembl:ENSG00000139131, GeneCard:YARS2, HGNC:HGNC:24249, HumanCyc Gene:HS06581, ModBase:Q9Y2Z4, NCBI Gene:51067, OMIM:610957, RefSeq DNA:NT_009714, RefSeq Protein:NP_001035526, RefSeq RNA:NM_001040436, UniProtKB:Q9Y2Z4 No chr12 32878195 32908895 32725247 32755961 +PA25852 54059 HGNC:1299 ENSG00000182362 ybeY metalloendoribonuclease YBEY ybeY metallopeptidase (putative) C21orf57 Yes No Ensembl:ENSG00000182362, GenAtlas:C21orf57, GeneCard:C21orf57, HGNC:HGNC:1299, ModBase:P58557, NCBI Gene:54059, RefSeq DNA:NT_011515, RefSeq Protein:NP_001006114, RefSeq Protein:NP_478061, RefSeq RNA:NM_001006114, RefSeq RNA:NM_058181, UniProtKB:P58557, UniProtKB:Q8TBC8 No chr21 47706250 47733020 46286056 46314188 +PA31791 4904 HGNC:8014 ENSG00000065978 Y-box binding protein 1 YBX1 Y box binding protein 1 BP-8, CSDA2, CSDB, DBPB, MDR-NF1, NSEP-1, NSEP1, YB-1, YB1 Yes Yes Comparative Toxicogenomics Database:4904, Ensembl:ENSG00000065978, GenAtlas:YBX1, GeneCard:YBX1, HGNC:HGNC:8014, HumanCyc Gene:HS00861, ModBase:P67809, NCBI Gene:4904, OMIM:154030, RefSeq DNA:NT_032977, RefSeq DNA:NT_079596, RefSeq Protein:NP_004550, RefSeq RNA:NM_004559, UCSC Genome Browser:NM_004559, UniProtKB:P67809 No chr1 43148060 43168024 42682235 42703803 +PA31792 50631 HGNC:8015 ENSG00000224861 Y box binding protein 1 pseudogene 1 YBX1P1 PSDBPB1 Yes No Ensembl:ENSG00000224861, GenAtlas:YBX1P1, GeneCard:YBX1P1, HGNC:HGNC:8015, NCBI Gene:50631, RefSeq DNA:NG_001276, RefSeq DNA:NT_026437 No chr14 66479151 66480651 66012433 66013933 +PA142670560 51087 HGNC:17948 ENSG00000006047 Y-box binding protein 2 YBX2 Y box binding protein 2 CSDA3, Contrin, MSY2 Yes No Ensembl:ENSG00000006047, GeneCard:YBX2, HGNC:HGNC:17948, HumanCyc Gene:HS00160, ModBase:Q9Y2T7, NCBI Gene:51087, OMIM:611447, RefSeq DNA:NT_010718, RefSeq Protein:NP_057066, RefSeq RNA:NM_015982, UniProtKB:Q9Y2T7 No chr17 7191571 7197876 7288252 7294602 +PA26929 8531 HGNC:2428 ENSG00000060138 Y-box binding protein 3 YBX3 Y box binding protein 3, cold-shock domain containing A1 CSDA, CSDA1, ZONAB, dbpA Yes No Comparative Toxicogenomics Database:8531, Ensembl:ENSG00000060138, GenAtlas:CSDA, GeneCard:CSDA, HGNC:HGNC:2428, HumanCyc Gene:HS00739, ModBase:P16989, NCBI Gene:8531, OMIM:603437, RefSeq DNA:NT_009714, RefSeq Protein:NP_001138898, RefSeq Protein:NP_003642, RefSeq RNA:NM_001145426, RefSeq RNA:NM_003651, UCSC Genome Browser:NM_003651, UniProtKB:P16989 No chr12 10851676 10876047 10699077 10723448 +PA26930 440359 HGNC:2429 ENSG00000261614 Y box binding protein 3 pseudogene 1 YBX3P1 Yes No Ensembl:ENSG00000261614, GenAtlas:CSDAP1, GeneCard:CSDAP1, HGNC:HGNC:2429, NCBI Gene:440359, RefSeq DNA:NT_010393, RefSeq RNA:NR_027011 No chr16 31579088 31580845 31567767 31569524 +PA162409362 150223 HGNC:27158 ENSG00000161179 YdjC chitooligosaccharide deacetylase homolog YDJC YdjC homolog (bacterial) Yes No Ensembl:ENSG00000161179, GeneCard:YDJC, HGNC:HGNC:27158, ModBase:A8MPS7, NCBI Gene:150223, RefSeq DNA:NT_011520, RefSeq Protein:NP_001017964, RefSeq RNA:NM_001017964, UniProtKB:A8MPS7 No chr22 21982378 21999017 21628089 21630326 +PA134922615 55689 HGNC:25489 ENSG00000163872 YEATS domain containing 2 YEATS2 FLJ10201, FLJ12841, FLJ13308, KIAA1197 Yes No Comparative Toxicogenomics Database:55689, Ensembl:ENSG00000163872, GeneCard:YEATS2, HGNC:HGNC:25489, HumanCyc Gene:HS08956, ModBase:Q9ULM3, NCBI Gene:55689, OMIM:613373, RefSeq DNA:NT_005612, RefSeq Protein:NP_060493, RefSeq RNA:NM_018023, UniProtKB:Q9ULM3 No chr3 183415587 183530413 183697797 183812625 +PA134992686 8089 HGNC:24859 ENSG00000127337 YEATS domain containing 4 YEATS4 GAS41, NuBI-1, YAF9 Yes Yes Comparative Toxicogenomics Database:8089, Ensembl:ENSG00000127337, GeneCard:YEATS4, HGNC:HGNC:24859, HumanCyc Gene:HS05087, NCBI Gene:8089, OMIM:602116, RefSeq DNA:NT_029419, RefSeq Protein:NP_006521, RefSeq RNA:NM_006530, UniProtKB:O95619 No chr12 69753490 69784576 69359705 69424838 +PA37432 7525 HGNC:12841 ENSG00000176105 YES proto-oncogene 1, Src family tyrosine kinase YES1 v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 HsT441, Yes, c-yes Yes No Comparative Toxicogenomics Database:7525, Ensembl:ENSG00000176105, GenAtlas:YES1, GeneCard:YES1, HGNC:HGNC:12841, HumanCyc Gene:HS11000, ModBase:P07947, NCBI Gene:7525, OMIM:164880, RefSeq DNA:NT_010859, RefSeq Protein:NP_005424, RefSeq RNA:NM_005433, UCSC Genome Browser:NM_005433, UniProtKB:P07947 No chr18 721592 812327 721592 812326 +PA134985105 10897 HGNC:16688 ENSG00000174851 Yip1 interacting factor homolog A, membrane trafficking protein YIF1A Yip1 interacting factor homolog A (S. cerevisiae) 54TM, FinGER7, YIF1, YIF1P Yes No Ensembl:ENSG00000174851, GeneCard:YIF1A, HGNC:HGNC:16688, HumanCyc Gene:HS10838, NCBI Gene:10897, OMIM:611484, RefSeq DNA:NT_167190, RefSeq Protein:NP_065203, RefSeq RNA:NM_020470, UniProtKB:A8K509, UniProtKB:O95070 No chr11 66052051 66056638 66284580 66289167 +PA142670561 90522 HGNC:30511 ENSG00000167645 Yip1 interacting factor homolog B, membrane trafficking protein YIF1B Yip1 interacting factor homolog B (S. cerevisiae) FinGER8 Yes No Comparative Toxicogenomics Database:90522, Ensembl:ENSG00000167645, GeneCard:YIF1B, HGNC:HGNC:30511, HumanCyc Gene:HS15583, ModBase:Q5BJH7, NCBI Gene:90522, RefSeq DNA:NT_011109, RefSeq Protein:NP_001034760, RefSeq Protein:NP_001034761, RefSeq Protein:NP_001034762, RefSeq Protein:NP_001138933, RefSeq Protein:NP_001138934, RefSeq Protein:NP_001138935, RefSeq Protein:NP_291035, RefSeq RNA:NM_001039671, RefSeq RNA:NM_001039672, RefSeq RNA:NM_001039673, RefSeq RNA:NM_001145461, RefSeq RNA:NM_001145462, RefSeq RNA:NM_001145463, RefSeq RNA:NM_033557, UniProtKB:Q5BJH7 No chr19 38794200 38806615 38303560 38315976 +PA142670555 54432 HGNC:25231 ENSG00000058799 Yip1 domain family member 1 YIPF1 Yip1 domain family, member 1 DJ167A19.1, FinGER1, YIPFbeta3A, Yip5a Yes No Comparative Toxicogenomics Database:54432, Ensembl:ENSG00000058799, GeneCard:YIPF1, HGNC:HGNC:25231, HumanCyc Gene:HS12149, ModBase:Q9Y548, NCBI Gene:54432, RefSeq DNA:NT_032977, RefSeq Protein:NP_061855, RefSeq RNA:NM_018982, RefSeq RNA:NR_036639, RefSeq RNA:NR_036640, UniProtKB:Q9Y548 No chr1 54317392 54355487 53851719 53889831 +PA142670556 78992 HGNC:28476 ENSG00000130733 Yip1 domain family member 2 YIPF2 Yip1 domain family, member 2 FinGER2, MGC3262, YIPFbeta3B, Yip5C Yes No Comparative Toxicogenomics Database:78992, Ensembl:ENSG00000130733, GeneCard:YIPF2, HGNC:HGNC:28476, HumanCyc Gene:HS13348, ModBase:Q9BWQ6, NCBI Gene:78992, RefSeq DNA:NT_011295, RefSeq Protein:NP_076934, RefSeq RNA:NM_024029, UniProtKB:Q9BWQ6 No chr19 11033444 11039357 10922185 10929012 +PA134946615 25844 HGNC:21023 ENSG00000137207 Yip1 domain family member 3 YIPF3 Yip1 domain family, member 3 C6orf109, DKFZp566C243, FinGER3, KLIP1, YIPFbeta2, Yip5b, dJ337H4.3 Yes No Ensembl:ENSG00000137207, GeneCard:YIPF3, HGNC:HGNC:21023, HumanCyc Gene:HS13666, ModBase:Q9GZM5, NCBI Gene:25844, OMIM:609775, RefSeq DNA:NT_007592, RefSeq Protein:NP_056203, RefSeq RNA:NM_015388, UniProtKB:Q9GZM5 No chr6 43479565 43484728 43511827 43516990 +PA142670547 84272 HGNC:28145 ENSG00000119820 Yip1 domain family member 4 YIPF4 Yip1 domain family, member 4 FinGER4, MGC11061, YIPFalpha2 Yes No Ensembl:ENSG00000119820, GeneCard:YIPF4, HGNC:HGNC:28145, HumanCyc Gene:HS12960, ModBase:Q9BSR8, NCBI Gene:84272, RefSeq DNA:NT_022184, RefSeq Protein:NP_115688, RefSeq RNA:NM_032312, UniProtKB:Q9BSR8 No chr2 32502958 32533074 32277889 32307929 +PA142670548 81555 HGNC:24877 ENSG00000145817 Yip1 domain family member 5 YIPF5 Yip1 domain family, member 5 FinGER5, SMAP-5, YIPFalpha1A, Yip1a Yes No Ensembl:ENSG00000145817, GeneCard:YIPF5, HGNC:HGNC:24877, HumanCyc Gene:HS14110, NCBI Gene:81555, OMIM:611483, RefSeq DNA:NT_029289, RefSeq Protein:NP_001020118, RefSeq Protein:NP_110426, RefSeq RNA:NM_001024947, RefSeq RNA:NM_030799, UniProtKB:Q969M3 No chr5 143537723 143550278 144158159 144170714 +PA142670549 286451 HGNC:28304 ENSG00000181704 Yip1 domain family member 6 YIPF6 Yip1 domain family, member 6 FinGER6, MGC21416, YIPFalpha3, Yip4 Yes No Ensembl:ENSG00000181704, GeneCard:YIPF6, HGNC:HGNC:28304, NCBI Gene:286451, RefSeq DNA:NT_011669, RefSeq Protein:NP_001182143, RefSeq Protein:NP_776195, RefSeq RNA:NM_001195214, RefSeq RNA:NM_173834, UniProtKB:Q96EC8 No chrX 67718624 67757127 68498374 68572413 +PA142670550 285525 HGNC:26825 ENSG00000177752 Yip1 domain family member 7 YIPF7 Yip1 domain family, member 7 FLJ39576, FinGER9, YIPFalpha1b, Yip1b Yes No Ensembl:ENSG00000177752, GeneCard:YIPF7, HGNC:HGNC:26825, NCBI Gene:285525, RefSeq DNA:NT_006238, RefSeq Protein:NP_872398, RefSeq RNA:NM_182592, UniProtKB:Q8N8F6 No chr4 44624354 44653658 44619578 44656868 +PA164727608 374887 HGNC:24785 ENSG00000250067 YjeF N-terminal domain containing 3 YJEFN3 FLJ44968, hYjeF_N3-19p13.11 Yes No Ensembl:ENSG00000250067, GeneCard:YJEFN3, HGNC:HGNC:24785, ModBase:A6XGL0, NCBI Gene:374887, RefSeq DNA:NT_011295, RefSeq Protein:NP_001177257, RefSeq Protein:NP_940939, RefSeq RNA:NM_001190328, RefSeq RNA:NM_198537, UniProtKB:A6XGL0 No chr19 19639670 19648393 19528861 19537584 +PA144596461 55702 HGNC:25518 ENSG00000105248 YJU2 splicing factor homolog YJU2 coiled-coil domain containing 94 CCDC94, FLJ10374 Yes No Comparative Toxicogenomics Database:55702, Ensembl:ENSG00000105248, GeneCard:CCDC94, HGNC:HGNC:25518, HumanCyc Gene:HS12579, ModBase:Q9BW85, NCBI Gene:55702, RefSeq DNA:NT_011255, RefSeq Protein:NP_060544, RefSeq RNA:NM_018074, UniProtKB:Q9BW85 No chr19 4247111 4269085 4247114 4269088 +PA166352267 81576 HGNC:28118 YJU2 splicing factor homolog B YJU2B CCDC130 MGC10471 Yes No HGNC:HGNC:28118, NCBI Gene:81576 No 0 0 0 0 +PA145007308 10652 HGNC:16959 ENSG00000106636 YKT6 v-SNARE homolog YKT6 R-SNARE, YKT6 v-SNARE homolog (S. cerevisiae) Yes No Comparative Toxicogenomics Database:10652, Ensembl:ENSG00000106636, GeneCard:YKT6, HGNC:HGNC:16959, HumanCyc Gene:HS02937, ModBase:O15498, NCBI Gene:10652, OMIM:606209, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_006546, RefSeq RNA:NM_006555, UniProtKB:A4D2J0, UniProtKB:O15498 No chr7 44240577 44253893 44200968 44214294 +PA134962086 56252 HGNC:17798 ENSG00000119596 YLP motif containing 1 YLPM1 protein phosphatase 1, regulatory subunit 169 C14orf170, PPP1R169, ZAP Yes No Ensembl:ENSG00000119596, GeneCard:YLPM1, HGNC:HGNC:17798, ModBase:P49750, NCBI Gene:56252, RefSeq DNA:NT_026437, RefSeq Protein:NP_062535, RefSeq RNA:NM_019589, UniProtKB:P49750, UniProtKB:Q8NF45 No chr14 75230025 75304013 74763322 74837310 +PA37434 10730 HGNC:12843 ENSG00000136758 YME1 like 1 ATPase YME1L1 YME1-like 1 (S. cerevisiae), YME1-like 1 ATPase YME1L Yes No Comparative Toxicogenomics Database:10730, Ensembl:ENSG00000136758, GenAtlas:YME1L1, GeneCard:YME1L1, HGNC:HGNC:12843, HumanCyc Gene:HS06210, ModBase:Q96TA2, NCBI Gene:10730, OMIM:607472, RefSeq DNA:NT_008705, RefSeq Protein:NP_055078, RefSeq Protein:NP_647473, RefSeq RNA:NM_014263, RefSeq RNA:NM_139312, UCSC Genome Browser:NM_014263, UniProtKB:Q96TA2 No chr10 27399040 27443349 27110111 27154802 +PA37435 23749 HGNC:12844 ENSG00000236831 YME1-like 1 (S. cerevisiae) pseudogene 1 YME1L1P1 Yes No Ensembl:ENSG00000236831, GenAtlas:YME1L2, GeneCard:YME1L1P1, HGNC:HGNC:12844, NCBI Gene:23749, RefSeq DNA:NG_002636, RefSeq DNA:NT_028395 No chr22 16485396 16487979 15489984 15492567 +PA142670552 55432 HGNC:25035 ENSG00000180667 YOD1 deubiquitinase YOD1 YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) DKFZp451J1719, DUBA8, OTUD2 Yes No Comparative Toxicogenomics Database:55432, Ensembl:ENSG00000180667, GeneCard:YOD1, HGNC:HGNC:25035, ModBase:Q5VVQ6, NCBI Gene:55432, OMIM:612023, RefSeq DNA:NT_167186, RefSeq Protein:NP_061036, RefSeq RNA:NM_018566, UniProtKB:Q5VVQ6 No chr1 207217194 207226325 207043849 207052980 +PA37436 29799 HGNC:12845 ENSG00000100027 yippee like 1 YPEL1 yippee-like 1 (Drosophila) Yes No Comparative Toxicogenomics Database:29799, Ensembl:ENSG00000100027, GenAtlas:YPEL1, GeneCard:YPEL1, HGNC:HGNC:12845, HumanCyc Gene:HS12383, ModBase:O60688, NCBI Gene:29799, OMIM:608082, RefSeq DNA:NT_011520, RefSeq Protein:NP_037445, RefSeq RNA:NM_013313, UCSC Genome Browser:NM_013313, UniProtKB:O60688 No chr22 22051825 22090071 21697536 21735834 +PA134978522 388403 HGNC:18326 ENSG00000175155 yippee like 2 YPEL2 yippee-like 2 (Drosophila) FKSG4 Yes No Ensembl:ENSG00000175155, GeneCard:YPEL2, HGNC:HGNC:18326, ModBase:Q96QA6, NCBI Gene:388403, OMIM:609723, RefSeq DNA:NT_010783, RefSeq Protein:NP_001005404, RefSeq RNA:NM_001005404, UniProtKB:Q96QA6 No chr17 57409053 57479095 59331692 59401734 +PA134985092 83719 HGNC:18327 ENSG00000090238 yippee like 3 YPEL3 yippee-like 3 (Drosophila) MGC10500 Yes No Ensembl:ENSG00000090238, GeneCard:YPEL3, HGNC:HGNC:18327, HumanCyc Gene:HS12327, NCBI Gene:83719, OMIM:609724, RefSeq DNA:NT_010393, RefSeq Protein:NP_001138996, RefSeq Protein:NP_113665, RefSeq RNA:NM_001145524, RefSeq RNA:NM_031477, UniProtKB:P61236 No chr16 30103635 30108248 30092314 30096216 +PA134991609 219539 HGNC:18328 ENSG00000166793 yippee like 4 YPEL4 yippee-like 4 (Drosophila) FLJ30213 Yes No Ensembl:ENSG00000166793, GeneCard:YPEL4, HGNC:HGNC:18328, HumanCyc Gene:HS15483, NCBI Gene:219539, OMIM:609725, RefSeq DNA:NT_167190, RefSeq Protein:NP_659445, RefSeq RNA:NM_145008, UniProtKB:Q96NS1 No chr11 57412560 57417417 57645087 57649944 +PA134863727 51646 HGNC:18329 ENSG00000119801 yippee like 5 YPEL5 yippee-like 5 (Drosophila) CGI-127 Yes No Comparative Toxicogenomics Database:51646, Ensembl:ENSG00000119801, GeneCard:YPEL5, HGNC:HGNC:18329, HumanCyc Gene:HS12958, ModBase:P62699, NCBI Gene:51646, OMIM:609726, RefSeq DNA:NT_022184, RefSeq Protein:NP_001120871, RefSeq Protein:NP_001120872, RefSeq Protein:NP_001120873, RefSeq Protein:NP_057145, RefSeq RNA:NM_001127399, RefSeq RNA:NM_001127400, RefSeq RNA:NM_001127401, RefSeq RNA:NM_016061, UniProtKB:P62699 No chr2 30369750 30383399 30146568 30160533 +PA142670553 79693 HGNC:28905 ENSG00000196449 yrdC N6-threonylcarbamoyltransferase domain containing YRDC ischemia/reperfusion inducible protein, yrdC N(6)-threonylcarbamoyltransferase domain containing, yrdC domain containing (E. coli) FLJ23476, IRIP, SUA5 Yes No Ensembl:ENSG00000196449, GeneCard:YRDC, HGNC:HGNC:28905, ModBase:Q86U90, NCBI Gene:79693, OMIM:612276, RefSeq DNA:NT_032977, RefSeq Protein:NP_078916, RefSeq RNA:NM_024640, UniProtKB:Q86U90 No chr1 38268614 38273865 37802942 37808193 +PA143485673 91746 HGNC:30626 ENSG00000083896 YTH N6-methyladenosine RNA binding protein C1 YTHDC1 YTH domain containing 1 KIAA1966, YT521, YT521-B Yes No Comparative Toxicogenomics Database:91746, Ensembl:ENSG00000083896, GeneCard:YTHDC1, HGNC:HGNC:30626, HumanCyc Gene:HS12280, ModBase:Q96MU7, NCBI Gene:91746, RefSeq DNA:NT_022778, RefSeq DNA:NT_167250, RefSeq Protein:NP_001026902, RefSeq Protein:NP_588611, RefSeq RNA:NM_001031732, RefSeq RNA:NM_133370, UniProtKB:Q96MU7 No chr4 69176105 69215824 68310387 68350106 +PA134912676 64848 HGNC:24721 ENSG00000047188 YTH N6-methyladenosine RNA binding protein C2 YTHDC2 YTH domain containing 2 DKFZp564A186, FLJ10053, FLJ2194 Yes No Comparative Toxicogenomics Database:64848, Ensembl:ENSG00000047188, GeneCard:YTHDC2, HGNC:HGNC:24721, HumanCyc Gene:HS12103, ModBase:Q9H6S0, NCBI Gene:64848, RefSeq DNA:NT_034772, RefSeq Protein:NP_073739, RefSeq RNA:NM_022828, UniProtKB:Q9H6S0 No chr5 112849391 112930984 113513683 113595287 +PA25737 54915 HGNC:15867 ENSG00000149658 YTH N6-methyladenosine RNA binding protein F1 YTHDF1 """YTH N(6)-methyladenosine RNA binding protein 1"", ""YTH N6-methyladenosine RNA binding protein 1"", ""YTH domain family, member 1""" C20orf21, FLJ20391 Yes No Ensembl:ENSG00000149658, GenAtlas:YTHDF1, GeneCard:YTHDF1, HGNC:HGNC:15867, HumanCyc Gene:HS14304, ModBase:Q9BYJ9, NCBI Gene:54915, RefSeq DNA:NT_011333, RefSeq Protein:NP_060268, RefSeq RNA:NM_017798, UCSC Genome Browser:NM_017798, UniProtKB:Q9BYJ9 No chr20 61826781 61847538 63195429 63216186 +PA134978347 402220 HGNC:31681 ENSG00000251389 YTH domain family, member 1 pseudogene 1 YTHDF1P1 Yes No Ensembl:ENSG00000251389, GeneCard:YTHDF1P1, HGNC:HGNC:31681, NCBI Gene:402220, RefSeq DNA:NG_004396, RefSeq DNA:NT_034772 No chr5 96704291 96706323 97368587 97370619 +PA134964518 51441 HGNC:31675 ENSG00000198492 YTH N6-methyladenosine RNA binding protein F2 YTHDF2 """YTH N(6)-methyladenosine RNA binding protein 2"", ""YTH N6-methyladenosine RNA binding protein 2"", ""YTH domain family, member 2""" CAHL, HGRG8, NY-REN-2 Yes No Comparative Toxicogenomics Database:51441, Ensembl:ENSG00000198492, GeneCard:YTHDF2, HGNC:HGNC:31675, ModBase:Q9Y5A9, NCBI Gene:51441, OMIM:152430, OMIM:610640, RefSeq DNA:NG_016746, RefSeq DNA:NT_004610, RefSeq Protein:NP_001166299, RefSeq Protein:NP_001166599, RefSeq Protein:NP_057342, RefSeq RNA:NM_001172828, RefSeq RNA:NM_001173128, RefSeq RNA:NM_016258, UniProtKB:Q9Y5A9 No chr1 29063133 29096287 28736621 28769775 +PA134982478 400209 HGNC:19865 ENSG00000270503 YTH domain family, member 2 pseudogene 1 YTHDF2P1 HGRG8, NY-REN-2 Yes No Ensembl:ENSG00000270503, GeneCard:YTHDF2P1, HGNC:HGNC:19865, NCBI Gene:400209, RefSeq DNA:NG_004109, RefSeq DNA:NT_026437 No chr14 39684268 39686363 39215064 39217159 +PA134976395 253943 HGNC:26465 ENSG00000185728 YTH N6-methyladenosine RNA binding protein F3 YTHDF3 """YTH N(6)-methyladenosine RNA binding protein 3"", ""YTH N6-methyladenosine RNA binding protein 3"", ""YTH domain family, member 3""" FLJ31657 Yes No Comparative Toxicogenomics Database:253943, Ensembl:ENSG00000185728, GeneCard:YTHDF3, HGNC:HGNC:26465, ModBase:Q7Z739, NCBI Gene:253943, RefSeq DNA:NT_008183, RefSeq Protein:NP_689971, RefSeq RNA:NM_152758, UniProtKB:Q7Z739 No chr8 64081112 64125346 63168553 63212788 +PA37438 7529 HGNC:12849 ENSG00000166913 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta YWHAB """14-3-3 alpha"", ""14-3-3 beta"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide""" YWHAA Yes No Comparative Toxicogenomics Database:7529, Ensembl:ENSG00000166913, GenAtlas:YWHAA, GenAtlas:YWHAB, GeneCard:YWHAA, GeneCard:YWHAB, HGNC:HGNC:12849, HumanCyc Gene:HS09479, ModBase:P31946, NCBI Gene:7529, OMIM:601289, RefSeq DNA:NT_011362, RefSeq Protein:NP_003395, RefSeq Protein:NP_647539, RefSeq RNA:NM_003404, RefSeq RNA:NM_139323, UCSC Genome Browser:NM_003404, UniProtKB:P31946 No chr20 43514240 43537173 44885599 44908532 +PA37440 7531 HGNC:12851 ENSG00000108953 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon YWHAE """14-3-3 epsilon"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide""" FLJ45465 Yes No Comparative Toxicogenomics Database:7531, Ensembl:ENSG00000108953, GenAtlas:YWHAE, GeneCard:YWHAE, HGNC:HGNC:12851, HumanCyc Gene:HS03181, ModBase:P62258, NCBI Gene:7531, OMIM:247200, OMIM:605066, RefSeq DNA:NG_009233, RefSeq DNA:NT_010718, RefSeq Protein:NP_006752, RefSeq RNA:NM_006761, RefSeq RNA:NR_024058, UCSC Genome Browser:NM_006761, UniProtKB:P62258, UniProtKB:Q4VJB6 No chr17 1247833 1303669 1344490 1400375 +PA37441 7532 HGNC:12852 ENSG00000170027 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma YWHAG """14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide""" 14-3-3GAMMA, 14-3-3γ, PPP1R170 Yes No Comparative Toxicogenomics Database:7532, Ensembl:ENSG00000170027, GenAtlas:YWHAG, GeneCard:YWHAG, HGNC:HGNC:12852, HumanCyc Gene:HS10059, ModBase:P61981, NCBI Gene:7532, OMIM:605356, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_036611, RefSeq RNA:NM_012479, UCSC Genome Browser:NM_012479, UniProtKB:P61981 No chr7 75956108 75988342 76326791 76359025 +PA37442 7533 HGNC:12853 ENSG00000128245 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta YWHAH """14-3-3 eta"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide""" YWHA1 Yes No Comparative Toxicogenomics Database:7533, Ensembl:ENSG00000128245, GenAtlas:YWHAH, GeneCard:YWHAH, HGNC:HGNC:12853, HumanCyc Gene:HS05165, ModBase:Q04917, NCBI Gene:7533, OMIM:113508, RefSeq DNA:NT_011520, RefSeq Protein:NP_003396, RefSeq RNA:NM_003405, UCSC Genome Browser:NM_003405, UniProtKB:Q04917, UniProtKB:Q9H4N8 No chr22 32340479 32353590 31944493 31957603 +PA37443 10971 HGNC:12854 ENSG00000134308 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta YWHAQ """14-3-3 theta"", ""protein tau"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide""" 14-3-3, HS1 Yes No Comparative Toxicogenomics Database:10971, Ensembl:ENSG00000134308, GenAtlas:YWHAQ, GeneCard:YWHAQ, HGNC:HGNC:12854, HumanCyc Gene:HS05854, ModBase:P27348, NCBI Gene:10971, OMIM:609009, RefSeq DNA:NT_005334, RefSeq Protein:NP_006817, RefSeq RNA:NM_006826, UCSC Genome Browser:NM_006826, UniProtKB:P27348 No chr2 9724096 9771184 9583967 9631055 +PA134878851 319121 HGNC:19937 ENSG00000258934 YWHAQ pseudogene 1 YWHAQP1 Yes No Ensembl:ENSG00000258934, HGNC:HGNC:19937, NCBI Gene:319121, RefSeq DNA:NG_002502, RefSeq DNA:NT_026437 No chr14 43276320 43277224 42807117 42808021 +PA134961536 246716 HGNC:23211 YWHAQ pseudogene 2 YWHAQP2 Yes No GeneCard:YWHAQP2, HGNC:HGNC:23211, NCBI Gene:246716, RefSeq DNA:NG_001580, RefSeq DNA:NT_011520 No chr22 44040722 44041756 43644842 43645876 +PA165752810 100862851 HGNC:37688 ENSG00000230019 YWHAQ pseudogene 9 YWHAQP9 Yes No Ensembl:ENSG00000230019, HGNC:HGNC:37688, NCBI Gene:100862851 No chr1 +PA37444 7534 HGNC:12855 ENSG00000164924 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta YWHAZ """14-3-3 delta"", ""14-3-3 zeta"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide""" 14-3-3-zeta, KCIP-1, YWHAD Yes No Comparative Toxicogenomics Database:7534, Ensembl:ENSG00000164924, GenAtlas:YWHAD, GenAtlas:YWHAZ, GeneCard:YWHAD, GeneCard:YWHAZ, HGNC:HGNC:12855, HumanCyc Gene:HS09160, ModBase:Q6P3U9, NCBI Gene:7534, OMIM:601288, RefSeq DNA:NT_008046, RefSeq Protein:NP_001129171, RefSeq Protein:NP_001129172, RefSeq Protein:NP_001129173, RefSeq Protein:NP_001129174, RefSeq Protein:NP_003397, RefSeq Protein:NP_663723, RefSeq RNA:NM_001135699, RefSeq RNA:NM_001135700, RefSeq RNA:NM_001135701, RefSeq RNA:NM_001135702, RefSeq RNA:NM_003406, RefSeq RNA:NM_145690, UCSC Genome Browser:NM_003406, UniProtKB:D0PNI1, UniProtKB:P63104 No chr8 101930804 101965717 100918576 100954068 +PA134938303 319120 HGNC:19938 ENSG00000259148 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 1 YWHAZP1 Yes No Ensembl:ENSG00000259148, HGNC:HGNC:19938, NCBI Gene:319120, RefSeq DNA:NG_002501, RefSeq DNA:NT_026437 No chr14 44759862 44761034 44290600 44291831 +PA134945021 150554 HGNC:31078 ENSG00000213236 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 2 YWHAZP2 Yes No Ensembl:ENSG00000213236, GeneCard:YWHAZP2, HGNC:HGNC:31078, NCBI Gene:150554 No chr2 127312878 127315756 126555301 126558179 +PA134908973 143371 HGNC:31101 ENSG00000229932 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 3 YWHAZP3 Yes No Ensembl:ENSG00000229932, GeneCard:YWHAZP3, HGNC:HGNC:31101, NCBI Gene:143371, RefSeq DNA:NG_001545, RefSeq DNA:NT_008705 No chr10 23425839 23428707 23136910 23139778 +PA37445 7528 HGNC:12856 ENSG00000100811 YY1 transcription factor YY1 INO80 complex subunit S, Yin and Yang 1 protein DELTA, INO80S, NF-E1, UCRBP, YIN-YANG-1 Yes No Comparative Toxicogenomics Database:7528, Ensembl:ENSG00000100811, GenAtlas:YY1, GeneCard:YY1, HGNC:HGNC:12856, HumanCyc Gene:HS02146, ModBase:P25490, NCBI Gene:7528, OMIM:600013, RefSeq DNA:NT_026437, RefSeq Protein:NP_003394, RefSeq RNA:NM_003403, UCSC Genome Browser:NM_003403, UniProtKB:P25490 No chr14 100705102 100745371 100238765 100279034 +PA142670546 55249 HGNC:30935 ENSG00000163374 YY1 associated protein 1 YY1AP1 HCCA2, YAP, YY1AP Yes No Ensembl:ENSG00000163374, GeneCard:YY1AP1, HGNC:HGNC:30935, HumanCyc Gene:HS15052, ModBase:Q96HB6, NCBI Gene:55249, OMIM:607860, RefSeq DNA:NT_004487, RefSeq Protein:NP_001185828, RefSeq Protein:NP_001185829, RefSeq Protein:NP_001185830, RefSeq Protein:NP_001185831, RefSeq Protein:NP_001185832, RefSeq Protein:NP_001185833, RefSeq Protein:NP_001185834, RefSeq Protein:NP_001185835, RefSeq Protein:NP_060723, RefSeq Protein:NP_620829, RefSeq Protein:NP_620830, RefSeq Protein:NP_620832, RefSeq RNA:NM_001198899, RefSeq RNA:NM_001198900, RefSeq RNA:NM_001198901, RefSeq RNA:NM_001198902, RefSeq RNA:NM_001198903, RefSeq RNA:NM_001198904, RefSeq RNA:NM_001198905, RefSeq RNA:NM_001198906, RefSeq RNA:NM_018253, RefSeq RNA:NM_139118, RefSeq RNA:NM_139119, RefSeq RNA:NM_139121, UniProtKB:Q9H869 No chr1 155629233 155658823 155659442 155689032 +PA134976542 404281 HGNC:31684 ENSG00000230797 YY2 transcription factor YY2 transcription factor yin yang 2 ZNF631 Yes No Ensembl:ENSG00000230797, GeneCard:YY2, HGNC:HGNC:31684, ModBase:O15391, NCBI Gene:404281, OMIM:300570, RefSeq DNA:NG_021268, RefSeq DNA:NT_167197, RefSeq Protein:NP_996806, RefSeq RNA:NM_206923, UniProtKB:O15391 No chrX 21874105 21876845 21855987 21858727 +PA162409377 353174 HGNC:29504 ENSG00000186919 zinc activated ion channel ZACN zinc activated ligand-gated ion channel L2, LGICZ, LGICZ1, ZAC, ZAC1 Yes No Ensembl:ENSG00000186919, GeneCard:ZACN, HGNC:HGNC:29504, IUPHAR Receptor:587, NCBI Gene:353174, OMIM:610935, RefSeq DNA:NT_010783, RefSeq Protein:NP_851321, RefSeq RNA:NM_180990, UniProtKB:Q401N2 No chr17 74075263 74078885 76079182 76082804 +PA37446 7455 HGNC:12857 ENSG00000146839 zonadhesin ZAN zonadhesin, zonadhesin (gene/pseudogene) Yes No Ensembl:ENSG00000146839, GenAtlas:ZAN, GeneCard:ZAN, HGNC:HGNC:12857, HumanCyc Gene:HS07376, ModBase:Q9BXN9, NCBI Gene:7455, OMIM:602372, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_003377, RefSeq Protein:NP_775082, RefSeq RNA:NM_003386, RefSeq RNA:NM_173059, UCSC Genome Browser:NM_003386, UniProtKB:Q9Y493 No chr7 100331249 100395419 100733599 100797797 +PA37447 7535 HGNC:12858 ENSG00000115085 zeta chain of T cell receptor associated protein kinase 70 ZAP70 tyrosine-protein kinase ZAP-70, zeta-chain (TCR) associated protein kinase 70kDa SRK, STD, ZAP-70 Yes No Comparative Toxicogenomics Database:7535, Ensembl:ENSG00000115085, GenAtlas:ZAP70, GeneCard:ZAP70, HGNC:HGNC:12858, HumanCyc Gene:HS03830, ModBase:P43403, NCBI Gene:7535, OMIM:176947, RefSeq DNA:NG_007727, RefSeq DNA:NT_022171, RefSeq Protein:NP_001070, RefSeq Protein:NP_997402, RefSeq RNA:NM_001079, RefSeq RNA:NM_207519, UCSC Genome Browser:NM_001079, UniProtKB:P43403 No chr2 98330031 98356990 97712030 97744327 +PA134938240 326340 HGNC:20436 ENSG00000182223 zygote arrest 1 ZAR1 zinc finger, 3CxxC-type 6 Z3CXXC6 Yes No Ensembl:ENSG00000182223, GeneCard:ZAR1, HGNC:HGNC:20436, ModBase:Q86SH2, NCBI Gene:326340, OMIM:607520, RefSeq DNA:NT_006238, RefSeq Protein:NP_783318, RefSeq RNA:NM_175619, UniProtKB:Q86SH2 No chr4 48492269 48496406 48490252 48497528 +PA165505636 646799 HGNC:37116 ENSG00000189167 zygote arrest 1 like ZAR1L """zinc finger, 3CxxC-type 7"", ""zygote arrest 1-like""" Z3CXXC7 Yes No Ensembl:ENSG00000189167, GeneCard:ZAR1L, HGNC:HGNC:37116, NCBI Gene:646799, RefSeq DNA:NG_017006, RefSeq DNA:NT_024524, RefSeq Protein:NP_001130043, RefSeq RNA:NM_001136571, UniProtKB:A6NP61 No chr13 32877908 32886091 32303771 32311954 +PA162409400 79740 HGNC:26245 ENSG00000169064 zinc finger B-box domain containing ZBBX zinc finger, B-box domain containing FLJ23049 Yes No Ensembl:ENSG00000169064, GeneCard:ZBBX, HGNC:HGNC:26245, HumanCyc Gene:HS09877, ModBase:A8MT70, NCBI Gene:79740, RefSeq DNA:NT_005612, RefSeq Protein:NP_001186130, RefSeq Protein:NP_001186131, RefSeq Protein:NP_078963, RefSeq RNA:NM_001199201, RefSeq RNA:NM_001199202, RefSeq RNA:NM_024687, UniProtKB:A8MT70 No chr3 166958075 167098193 167178399 167380405 +PA24753 9189 HGNC:447 ENSG00000214717 zinc finger BED-type containing 1 ZBED1 zinc finger, BED-type containing 1 ALTE, DREF, KIAA0785, TRAMP, hDREF Yes No Comparative Toxicogenomics Database:9189, Ensembl:ENSG00000214717, GenAtlas:ZBED1, GeneCard:ZBED1, HGNC:HGNC:447, HumanCyc Gene:HS09880, ModBase:O96006, NCBI Gene:9189, OMIM:300178, RefSeq DNA:NG_016364, RefSeq DNA:NT_167197, RefSeq DNA:NT_167205, RefSeq Protein:NP_001164606, RefSeq Protein:NP_001164607, RefSeq Protein:NP_004720, RefSeq RNA:NM_001171135, RefSeq RNA:NM_001171136, RefSeq RNA:NM_004729, UCSC Genome Browser:NM_004729, UniProtKB:O96006 No chrX 2404455 2419008 2486414 2500967 +PA134879520 79413 HGNC:20710 ENSG00000177494 zinc finger BED-type containing 2 ZBED2 zinc finger, BED-type containing 2 MGC10796 Yes No Comparative Toxicogenomics Database:79413, Ensembl:ENSG00000177494, GeneCard:ZBED2, HGNC:HGNC:20710, HumanCyc Gene:HS11177, ModBase:Q9BTP6, NCBI Gene:79413, RefSeq DNA:NT_005612, RefSeq Protein:NP_078784, RefSeq RNA:NM_024508, UniProtKB:Q9BTP6 No chr3 111311747 111314182 111592900 111595335 +PA134974972 84327 HGNC:20711 ENSG00000132846 zinc finger BED-type containing 3 ZBED3 zinc finger, BED-type containing 3 MGC15435 Yes No Ensembl:ENSG00000132846, GeneCard:ZBED3, HGNC:HGNC:20711, HumanCyc Gene:HS05698, ModBase:Q96IU2, NCBI Gene:84327, RefSeq DNA:NT_006713, RefSeq Protein:NP_115743, RefSeq RNA:NM_032367, UniProtKB:Q96IU2 No chr5 76372532 76383030 77076707 77087205 +PA134948378 9889 HGNC:20721 ENSG00000100426 zinc finger BED-type containing 4 ZBED4 zinc finger, BED-type containing 4 KIAA0637 Yes No Comparative Toxicogenomics Database:9889, Ensembl:ENSG00000100426, GeneCard:ZBED4, HGNC:HGNC:20721, HumanCyc Gene:HS02082, ModBase:O75132, NCBI Gene:9889, OMIM:612552, RefSeq DNA:NT_011520, RefSeq Protein:NP_055653, RefSeq RNA:NM_014838, UniProtKB:O75132 No chr22 50247497 50283726 49853849 49890078 +PA147357120 58486 HGNC:30803 ENSG00000236287 zinc finger BED-type containing 5 ZBED5 zinc finger, BED-type containing 5 Buster1 Yes Yes Comparative Toxicogenomics Database:58486, Ensembl:ENSG00000236287, GeneCard:ZBED5, HGNC:HGNC:30803, ModBase:Q49AG3, NCBI Gene:58486, RefSeq DNA:NT_009237, RefSeq Protein:NP_001137139, RefSeq Protein:NP_067034, RefSeq RNA:NM_001143667, RefSeq RNA:NM_021211, UniProtKB:Q49AG3 No chr11 10874251 10879620 10852704 10858073 +PA165752811 100381270 HGNC:33273 ENSG00000257315 zinc finger BED-type containing 6 ZBED6 zinc finger, BED-type containing 6 Yes No Ensembl:ENSG00000257315, GeneCard:ZBED6, HGNC:HGNC:33273, NCBI Gene:100381270, OMIM:613512, RefSeq Protein:NP_001167579, RefSeq RNA:NM_001174108, UniProtKB:P86452 No chr1 203766651 203769590 203797523 203800462 +PA38094 81030 HGNC:16176 ENSG00000124256 Z-DNA binding protein 1 ZBP1 DNA-dependent activator of IRFs C20orf183, DAI, DLM-1, DLM1, dJ718J7.3 Yes No Comparative Toxicogenomics Database:81030, Ensembl:ENSG00000124256, GenAtlas:ZBP1, GeneCard:ZBP1, HGNC:HGNC:16176, HumanCyc Gene:HS04753, ModBase:Q9H171, NCBI Gene:81030, OMIM:606750, RefSeq DNA:NT_011362, RefSeq Protein:NP_001153889, RefSeq Protein:NP_001153890, RefSeq Protein:NP_001153891, RefSeq Protein:NP_110403, RefSeq RNA:NM_001160417, RefSeq RNA:NM_001160418, RefSeq RNA:NM_001160419, RefSeq RNA:NM_030776, UCSC Genome Browser:NM_030776, UniProtKB:A2A2F7, UniProtKB:B3KVA1, UniProtKB:Q9H171 No chr20 56178902 56195632 57603846 57620576 +PA128395769 22890 HGNC:20259 ENSG00000126804 zinc finger and BTB domain containing 1 ZBTB1 KIAA0997, ZNF909 Yes No Comparative Toxicogenomics Database:22890, Ensembl:ENSG00000126804, GeneCard:ZBTB1, HGNC:HGNC:20259, HumanCyc Gene:HS05052, ModBase:Q9Y2K1, NCBI Gene:22890, RefSeq DNA:NT_026437, RefSeq Protein:NP_001116801, RefSeq Protein:NP_055765, RefSeq RNA:NM_001123329, RefSeq RNA:NM_014950, UCSC Genome Browser:NM_014950, UniProtKB:Q9Y2K1 No chr14 64971292 65000408 64504574 64533690 +PA134883318 65986 HGNC:30953 ENSG00000205189 zinc finger and BTB domain containing 10 ZBTB10 FLJ12752, RINZF Yes No Comparative Toxicogenomics Database:65986, Ensembl:ENSG00000205189, GeneCard:ZBTB10, HGNC:HGNC:30953, ModBase:Q96DT7, NCBI Gene:65986, RefSeq DNA:NT_008183, RefSeq Protein:NP_001099009, RefSeq Protein:NP_076418, RefSeq RNA:NM_001105539, RefSeq RNA:NM_023929, UniProtKB:A4FVD0, UniProtKB:Q96DT7, UniProtKB:Q9H9H3 No chr8 81397854 81438500 80485619 80526265 +PA134907354 27107 HGNC:16740 ENSG00000066422 zinc finger and BTB domain containing 11 ZBTB11 ZNF-U69274, ZNF913 Yes No Ensembl:ENSG00000066422, GeneCard:ZBTB11, HGNC:HGNC:16740, HumanCyc Gene:HS00878, ModBase:O95625, NCBI Gene:27107, RefSeq DNA:NT_005612, RefSeq Protein:NP_055230, RefSeq RNA:NM_014415, UniProtKB:O95625, UniProtKB:Q59H97 No chr3 101368283 101395988 101649439 101677144 +PA38784 221527 HGNC:19066 ENSG00000204366, ENSG00000206366, ENSG00000234196, ENSG00000234852, ENSG00000237900 zinc finger and BTB domain containing 12 ZBTB12 C6orf46, D6S59E, G10, NG35 Yes No Comparative Toxicogenomics Database:221527, Ensembl:ENSG00000204366, Ensembl:ENSG00000206366, Ensembl:ENSG00000234196, Ensembl:ENSG00000234852, Ensembl:ENSG00000237900, GenAtlas:ZBTB12, GeneCard:ZBTB12, HGNC:HGNC:19066, ModBase:Q9Y330, NCBI Gene:221527, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_862825, RefSeq RNA:NM_181842, UCSC Genome Browser:NM_181842, UniProtKB:Q9Y330 No chr6 31867394 31869769 31899194 31902331 +PA37449 7541 HGNC:12860 ENSG00000198081 zinc finger and BTB domain containing 14 ZBTB14 ZFP161, ZNF478 Yes No Comparative Toxicogenomics Database:7541, Ensembl:ENSG00000198081, GenAtlas:ZFP161, GeneCard:ZFP161, HGNC:HGNC:12860, ModBase:O43829, NCBI Gene:7541, OMIM:602126, RefSeq DNA:NT_010859, RefSeq Protein:NP_001137295, RefSeq Protein:NP_003400, RefSeq RNA:NM_001143823, RefSeq RNA:NM_003409, RefSeq RNA:NR_026569, UCSC Genome Browser:NM_003409, UniProtKB:B2R850, UniProtKB:O43829 No chr18 5289018 5297052 5289019 5297053 +PA37517 7704 HGNC:12930 ENSG00000109906 zinc finger and BTB domain containing 16 ZBTB16 promyelocytic leukaemia zinc finger PLZF, ZNF145 Yes No Comparative Toxicogenomics Database:7704, Ensembl:ENSG00000109906, GenAtlas:ZBTB16, GeneCard:ZBTB16, HGNC:HGNC:12930, HumanCyc Gene:HS03266, ModBase:Q05516, NCBI Gene:7704, OMIM:176797, OMIM:612447, RefSeq DNA:NG_012140, RefSeq DNA:NT_033899, RefSeq Protein:NP_001018011, RefSeq Protein:NP_005997, RefSeq RNA:NM_001018011, RefSeq RNA:NM_006006, UCSC Genome Browser:NM_006006, UniProtKB:Q05516 No chr11 113930289 114126702 114059576 114256765 +PA37522 7709 HGNC:12936 ENSG00000116809 zinc finger and BTB domain containing 17 ZBTB17 MIZ1, ZNF151, ZNF60, pHZ-67 Yes No Comparative Toxicogenomics Database:7709, Ensembl:ENSG00000116809, GenAtlas:ZBTB17, GeneCard:ZBTB17, HGNC:HGNC:12936, HumanCyc Gene:HS04057, ModBase:Q13105, NCBI Gene:7709, OMIM:604084, RefSeq DNA:NT_004610, RefSeq Protein:NP_001229813, RefSeq Protein:NP_003434, RefSeq RNA:NM_001242884, RefSeq RNA:NM_003443, UCSC Genome Browser:NM_003443, UniProtKB:Q13105 No chr1 16268364 16302627 15941869 15976132 +PA37608 10472 HGNC:13030 ENSG00000179456 zinc finger and BTB domain containing 18 ZBTB18 C2H2-171, RP58, TAZ-1, ZNF238 Yes No Ensembl:ENSG00000179456, GenAtlas:ZNF238, GeneCard:ZNF238, HGNC:HGNC:13030, HumanCyc Gene:HS11387, ModBase:Q99592, NCBI Gene:10472, OMIM:608433, RefSeq DNA:NT_167186, RefSeq Protein:NP_006343, RefSeq Protein:NP_991331, RefSeq RNA:NM_006352, RefSeq RNA:NM_205768, UCSC Genome Browser:NM_006352, UniProtKB:Q99592 No chr1 244212241 244220778 244048939 244057476 +PA134949885 57621 HGNC:20868 ENSG00000181472 zinc finger and BTB domain containing 2 ZBTB2 KIAA1483, ZNF437, bA351K16.2 Yes No Ensembl:ENSG00000181472, GeneCard:ZBTB2, HGNC:HGNC:20868, HumanCyc Gene:HS11623, ModBase:Q8N680, NCBI Gene:57621, RefSeq DNA:NT_025741, RefSeq Protein:NP_065912, RefSeq RNA:NM_020861, UniProtKB:Q8N680 No chr6 151685250 151712677 151364115 151391705 +PA37789 26137 HGNC:13503 ENSG00000181722 zinc finger and BTB domain containing 20 ZBTB20 DKFZp566F123, DPZF, ODA-8S, ZNF288 Yes No Comparative Toxicogenomics Database:26137, Ensembl:ENSG00000181722, GenAtlas:ZBTB20, GeneCard:ZBTB20, HGNC:HGNC:13503, HumanCyc Gene:HS11651, NCBI Gene:26137, OMIM:606025, RefSeq DNA:NT_005612, RefSeq Protein:NP_001157814, RefSeq Protein:NP_001157815, RefSeq Protein:NP_001157816, RefSeq Protein:NP_001157817, RefSeq Protein:NP_001157818, RefSeq Protein:NP_001157819, RefSeq Protein:NP_056457, RefSeq RNA:NM_001164342, RefSeq RNA:NM_001164343, RefSeq RNA:NM_001164344, RefSeq RNA:NM_001164345, RefSeq RNA:NM_001164346, RefSeq RNA:NM_001164347, RefSeq RNA:NM_015642, UCSC Genome Browser:NM_015642, UniProtKB:A8K251, UniProtKB:B2RCW4, UniProtKB:Q9HC78 No chr3 114033348 114866132 114314500 115147280 +PA37659 49854 HGNC:13083 ENSG00000173276 zinc finger and BTB domain containing 21 ZBTB21 KIAA1227, ZNF295 Yes No Ensembl:ENSG00000173276, GenAtlas:ZNF295, GeneCard:ZNF295, HGNC:HGNC:13083, HumanCyc Gene:HS10644, ModBase:Q9ULJ3, NCBI Gene:49854, RefSeq DNA:NT_011515, RefSeq Protein:NP_001091872, RefSeq Protein:NP_001091873, RefSeq Protein:NP_065778, RefSeq RNA:NM_001098402, RefSeq RNA:NM_001098403, RefSeq RNA:NM_020727, UCSC Genome Browser:NM_020727, UniProtKB:Q5R2W1, UniProtKB:Q5R2W2, UniProtKB:Q9ULJ3 No chr21 43406940 43430496 41986831 42010418 +PA37661 9278 HGNC:13085 ENSG00000236104, ENSG00000237056 zinc finger and BTB domain containing 22 ZBTB22 BING1, ZBTB22A, ZNF297, ZNF297A, fru, fruitless Yes Yes Comparative Toxicogenomics Database:9278, Ensembl:ENSG00000236104, Ensembl:ENSG00000237056, GenAtlas:ZBTB22, GeneCard:ZBTB22, HGNC:HGNC:13085, HumanCyc Gene:HS09737, ModBase:O15209, NCBI Gene:9278, OMIM:611439, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167245, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq Protein:NP_001138810, RefSeq Protein:NP_005444, RefSeq RNA:NM_001145338, RefSeq RNA:NM_005453, UCSC Genome Browser:NM_005453, UniProtKB:O15209 No chr6 33282182 33285719 33314405 33317942 +PA134904966 9841 HGNC:21143 ENSG00000112365 zinc finger and BTB domain containing 24 ZBTB24 POZ (BTB) and AT hook containing zinc finger 2 BIF1, KIAA0441, PATZ2, ZNF450 Yes No Ensembl:ENSG00000112365, GeneCard:ZBTB24, HGNC:HGNC:21143, HumanCyc Gene:HS03566, ModBase:O43167, NCBI Gene:9841, RefSeq DNA:NT_025741, RefSeq Protein:NP_001157785, RefSeq Protein:NP_055612, RefSeq RNA:NM_001164313, RefSeq RNA:NM_014797, UniProtKB:O43167 No chr6 109783719 109804440 109462516 109483237 +PA37687 7597 HGNC:13112 ENSG00000089775 zinc finger and BTB domain containing 25 ZBTB25 C14orf51, KUP, ZNF46 Yes No Comparative Toxicogenomics Database:7597, Ensembl:ENSG00000089775, GenAtlas:ZBTB25, GeneCard:ZBTB25, HGNC:HGNC:13112, HumanCyc Gene:HS01665, ModBase:P24278, NCBI Gene:7597, OMIM:194541, RefSeq DNA:NT_026437, RefSeq Protein:NP_008908, RefSeq RNA:NM_006977, UCSC Genome Browser:NM_006977, UniProtKB:P24278 No chr14 64916285 64970656 64447172 64505213 +PA134914020 57684 HGNC:23383 ENSG00000171448 zinc finger and BTB domain containing 26 ZBTB26 ZNF481 Yes No Ensembl:ENSG00000171448, GeneCard:ZBTB26, HGNC:HGNC:23383, HumanCyc Gene:HS10307, ModBase:Q9HCK0, NCBI Gene:57684, RefSeq DNA:NT_008470, RefSeq Protein:NP_065975, RefSeq RNA:NM_020924, UniProtKB:Q9HCK0 No chr9 125677845 125693792 122918029 122931551 +PA134950004 79842 HGNC:22918 ENSG00000185670 zinc finger and BTB domain containing 3 ZBTB3 FLJ23392 Yes No Comparative Toxicogenomics Database:79842, Ensembl:ENSG00000185670, GeneCard:ZBTB3, HGNC:HGNC:22918, ModBase:Q9H5J0, NCBI Gene:79842, RefSeq DNA:NT_167190, RefSeq Protein:NP_079060, RefSeq RNA:NM_024784, UniProtKB:Q9H5J0 No chr11 62518435 62521656 62750963 62754184 +PA142670541 27033 HGNC:16763 ENSG00000011590 zinc finger and BTB domain containing 32 ZBTB32 myoneurin, repressor of GATA FAXF, FAZF, Rog, TZFP, ZNF538, mynn Yes No Ensembl:ENSG00000011590, GeneCard:ZBTB32, HGNC:HGNC:16763, HumanCyc Gene:HS00323, ModBase:Q9Y2Y4, NCBI Gene:27033, OMIM:605859, RefSeq DNA:NT_011109, RefSeq Protein:NP_055198, RefSeq RNA:NM_014383, UniProtKB:Q9Y2Y4 No chr19 36195389 36207940 35704481 35717048 +PA134928604 10009 HGNC:16682 ENSG00000177485 zinc finger and BTB domain containing 33 ZBTB33 KAISO, WUGSC:H_DJ525N14.1, ZNF-kaiso, ZNF348, kaiso Yes No Ensembl:ENSG00000177485, GeneCard:ZBTB33, HGNC:HGNC:16682, HumanCyc Gene:HS11175, ModBase:Q86T24, NCBI Gene:10009, OMIM:300329, RefSeq DNA:NG_021334, RefSeq DNA:NT_011786, RefSeq Protein:NP_001171671, RefSeq Protein:NP_006768, RefSeq RNA:NM_001184742, RefSeq RNA:NM_006777, UniProtKB:Q86T24 No chrX 119384607 119392251 120250752 120258396 +PA134869916 403341 HGNC:31446 ENSG00000177125 zinc finger and BTB domain containing 34 ZBTB34 KIAA1993, MGC24652, ZNF918 Yes No Ensembl:ENSG00000177125, GeneCard:ZBTB34, HGNC:HGNC:31446, ModBase:Q8NCN2, NCBI Gene:403341, OMIM:611692, RefSeq DNA:NT_008470, RefSeq Protein:NP_001092740, RefSeq RNA:NM_001099270, UniProtKB:Q8NCN2 No chr9 129622944 129648157 126860665 126885878 +PA134911383 84614 HGNC:28365 ENSG00000185278 zinc finger and BTB domain containing 37 ZBTB37 MGC2629, ZNF908 Yes No Ensembl:ENSG00000185278, GeneCard:ZBTB37, HGNC:HGNC:28365, ModBase:Q5TC79, NCBI Gene:84614, RefSeq DNA:NT_004487, RefSeq Protein:NP_001116242, RefSeq Protein:NP_115911, RefSeq RNA:NM_001122770, RefSeq RNA:NM_032522, UniProtKB:Q5TC79, UniProtKB:Q8WYT0 No chr1 173837220 173856596 173868095 173891122 +PA142670542 253461 HGNC:26636 ENSG00000177311 zinc finger and BTB domain containing 38 ZBTB38 protein phosphatase 1, regulatory subunit 171 CIBZ, FLJ35036, PPP1R171, ZNF921 Yes No Comparative Toxicogenomics Database:253461, Ensembl:ENSG00000177311, GeneCard:ZBTB38, HGNC:HGNC:26636, ModBase:Q8NAP3, NCBI Gene:253461, OMIM:612218, OMIM:612221, RefSeq DNA:NG_021426, RefSeq DNA:NT_005612, RefSeq Protein:NP_001073881, RefSeq RNA:NM_001080412, UniProtKB:Q8NAP3, UniProtKB:Q9H6F0 No chr3 141043055 141168634 141324213 141449792 +PA142670543 9880 HGNC:29014 ENSG00000166860 zinc finger and BTB domain containing 39 ZBTB39 KIAA0352, ZNF922 Yes No Ensembl:ENSG00000166860, GeneCard:ZBTB39, HGNC:HGNC:29014, HumanCyc Gene:HS09464, ModBase:O15060, NCBI Gene:9880, RefSeq DNA:NT_029419, RefSeq Protein:NP_055645, RefSeq RNA:NM_014830, UniProtKB:O15060 No chr12 57392617 57400297 56998833 57006513 +PA134959224 57659 HGNC:23847 ENSG00000174282 zinc finger and BTB domain containing 4 ZBTB4 KAISO-L1, KIAA1538, ZNF903 Yes Yes Ensembl:ENSG00000174282, GeneCard:ZBTB4, HGNC:HGNC:23847, ModBase:Q9P1Z0, NCBI Gene:57659, OMIM:612308, RefSeq DNA:NT_010718, RefSeq Protein:NP_001122305, RefSeq Protein:NP_065950, RefSeq RNA:NM_001128833, RefSeq RNA:NM_020899, UniProtKB:B3KVD4, UniProtKB:Q9P1Z0 No chr17 7362685 7387568 7459366 7484249 +PA142670544 9923 HGNC:29045 ENSG00000184677 zinc finger and BTB domain containing 40 ZBTB40 KIAA0478, ZNF923 Yes No Comparative Toxicogenomics Database:9923, Ensembl:ENSG00000184677, GeneCard:ZBTB40, HGNC:HGNC:29045, HumanCyc Gene:HS08693, ModBase:Q9NUA8, NCBI Gene:9923, OMIM:612106, RefSeq DNA:NT_004610, RefSeq Protein:NP_001077090, RefSeq Protein:NP_055685, RefSeq RNA:NM_001083621, RefSeq RNA:NM_014870, UniProtKB:B3KR52, UniProtKB:Q1RMZ5, UniProtKB:Q9NUA8 No chr1 22778344 22857650 22428838 22531157 +PA142670545 360023 HGNC:24819 ENSG00000177888 zinc finger and BTB domain containing 41 ZBTB41 DKFZp686C06120, FLJ36199, FRBZ1, ZNF924 Yes No Comparative Toxicogenomics Database:360023, Ensembl:ENSG00000177888, GeneCard:ZBTB41, HGNC:HGNC:24819, ModBase:Q5SVQ8, NCBI Gene:360023, RefSeq DNA:NT_004487, RefSeq Protein:NP_919290, RefSeq RNA:NM_194314, UniProtKB:Q5SVQ8 No chr1 197122814 197169672 197153682 197200542 +PA144596242 100128927 HGNC:32550 ENSG00000179627 zinc finger and BTB domain containing 42 ZBTB42 ZNF925 Yes No Ensembl:ENSG00000179627, HGNC:HGNC:32550, NCBI Gene:100128927, RefSeq DNA:NT_026437, RefSeq Protein:NP_001131073, RefSeq Protein:XP_001717250, RefSeq RNA:NM_001137601, RefSeq RNA:XM_001717198, RefSeq RNA:XR_042289, RefSeq RNA:XR_042430, RefSeq RNA:XR_042458, UniProtKB:B2RXF5 No chr14 105266933 105271049 104800597 104804712 +PA38257 23099 HGNC:17908 ENSG00000169155 zinc finger and BTB domain containing 43 ZBTB43 FLJ22470, KIAA0414, ZBTB22B, ZNF-X, ZNF297B Yes No Ensembl:ENSG00000169155, GenAtlas:ZBTB43, GeneCard:ZBTB43, HGNC:HGNC:17908, HumanCyc Gene:HS09891, ModBase:O43298, NCBI Gene:23099, RefSeq DNA:NT_008470, RefSeq Protein:NP_001129248, RefSeq Protein:NP_054726, RefSeq RNA:NM_001135776, RefSeq RNA:NM_014007, UCSC Genome Browser:NM_014007, UniProtKB:O43298, UniProtKB:Q5JU96 No chr9 129567285 129600489 126804072 126838210 +PA162409447 29068 HGNC:25001 ENSG00000196323 zinc finger and BTB domain containing 44 ZBTB44 BTBD15, HSPC063, ZNF851 Yes No Ensembl:ENSG00000196323, GeneCard:ZBTB44, HGNC:HGNC:25001, HumanCyc Gene:HS15856, ModBase:Q8NCP5, NCBI Gene:29068, RefSeq DNA:NT_033899, RefSeq Protein:NP_054874, RefSeq RNA:NM_014155, UniProtKB:Q8NCP5 No chr11 130096572 130184663 130226677 130314908 +PA162409464 84878 HGNC:23715 ENSG00000119574 zinc finger and BTB domain containing 45 ZBTB45 FLJ14486, ZNF499 Yes No Ensembl:ENSG00000119574, GeneCard:ZBTB45, HGNC:HGNC:23715, HumanCyc Gene:HS04310, ModBase:Q96K62, NCBI Gene:84878, RefSeq DNA:NT_011109, RefSeq Protein:NP_116181, RefSeq RNA:NM_032792, UniProtKB:Q96K62 No chr19 59024897 59031845 58513530 58541712 +PA25441 140685 HGNC:16094 ENSG00000130584 zinc finger and BTB domain containing 46 ZBTB46 BTB-ZF protein expressed in effector lymphocytes BTBD4, BZEL, FLJ13502, RINZF, ZNF340 Yes No Ensembl:ENSG00000130584, GenAtlas:BTBD4, GeneCard:BTBD4, GeneCard:ZBTB46, HGNC:HGNC:16094, HumanCyc Gene:HS13339, NCBI Gene:140685, RefSeq DNA:NT_011333, RefSeq Protein:NP_079500, RefSeq RNA:NM_025224, UniProtKB:Q6ZMU8, UniProtKB:Q86UZ6 No chr20 62375021 62463731 63743668 63832332 +PA162409466 92999 HGNC:26955 ENSG00000114853 zinc finger and BTB domain containing 47 ZBTB47 DKFZp434N0615, KIAA1190, ZNF651 Yes No Ensembl:ENSG00000114853, GeneCard:ZBTB47, HGNC:HGNC:26955, HumanCyc Gene:HS03808, ModBase:Q9UFB7, NCBI Gene:92999, RefSeq DNA:NT_022517, RefSeq Protein:NP_660149, RefSeq RNA:NM_145166, UniProtKB:Q9UFB7 No chr3 42695176 42709072 42653684 42667580 +PA162409481 3104 HGNC:4930 ENSG00000204859 zinc finger and BTB domain containing 48 ZBTB48 telomeric zinc finger-associated protein HKR3, TZAP, ZNF855 Yes No Ensembl:ENSG00000204859, GeneCard:ZBTB48, HGNC:HGNC:4930, HumanCyc Gene:HS08672, ModBase:P10074, NCBI Gene:3104, OMIM:165270, RefSeq DNA:NT_021937, RefSeq Protein:NP_005332, RefSeq RNA:NM_005341, UniProtKB:P10074 No chr1 6640051 6649340 6579967 6589280 +PA165664822 166793 HGNC:19883 ENSG00000168826 zinc finger and BTB domain containing 49 ZBTB49 FLJ38559, ZNF509 Yes No Ensembl:ENSG00000168826, GeneCard:ZBTB49, HGNC:HGNC:19883, HumanCyc Gene:HS15716, NCBI Gene:166793, RefSeq DNA:NT_006051, RefSeq Protein:NP_660334, RefSeq RNA:NM_145291, UniProtKB:A8K936, UniProtKB:Q32ML0, UniProtKB:Q6ZSB9 No chr4 4291924 4323513 4290197 4321786 +PA134969268 9925 HGNC:23836 ENSG00000168795 zinc finger and BTB domain containing 5 ZBTB5 KIAA0354 Yes No Comparative Toxicogenomics Database:9925, Ensembl:ENSG00000168795, GeneCard:ZBTB5, HGNC:HGNC:23836, HumanCyc Gene:HS09825, ModBase:O15062, NCBI Gene:9925, RefSeq DNA:NT_008413, RefSeq Protein:NP_055687, RefSeq RNA:NM_014872, UniProtKB:O15062, UniProtKB:Q5T942 No chr9 37438099 37465407 37438102 37465410 +PA134939601 10773 HGNC:16764 ENSG00000186130 zinc finger and BTB domain containing 6 ZBTB6 ZID, ZNF482 Yes No Ensembl:ENSG00000186130, GeneCard:ZBTB6, HGNC:HGNC:16764, ModBase:Q15916, NCBI Gene:10773, OMIM:605976, RefSeq DNA:NT_008470, RefSeq Protein:NP_006617, RefSeq RNA:NM_006626, UniProtKB:Q15916 No chr9 125670335 125676365 122908056 122913328 +PA134885165 51341 HGNC:18078 ENSG00000178951 zinc finger and BTB domain containing 7A ZBTB7A """POK erythroid myeloid ontogenic factor"", ""leukemia/lymphoma related factor"", ""lymphoma related factor"", ""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein""" DKFZp547O146, FBI-1, LRF, ZBTB7, ZNF857A, pokemon Yes No Ensembl:ENSG00000178951, GeneCard:ZBTB7A, HGNC:HGNC:18078, HumanCyc Gene:HS05061, ModBase:O95365, NCBI Gene:51341, OMIM:605878, RefSeq DNA:NT_011255, RefSeq Protein:NP_056982, RefSeq RNA:NM_015898, UniProtKB:O95365 No chr19 4045216 4066816 4043304 4066945 +PA38630 51043 HGNC:18668 ENSG00000160685 zinc finger and BTB domain containing 7B ZBTB7B zinc finger and BTB domain containing 15 ThPOK, ZBTB15, ZFP67, ZNF857B, c-Krox, hcKrox, vGAF Yes No Comparative Toxicogenomics Database:51043, Ensembl:ENSG00000160685, GenAtlas:ZBTB7B, GeneCard:ZBTB7B, HGNC:HGNC:18668, HumanCyc Gene:HS08519, ModBase:O15156, NCBI Gene:51043, OMIM:607646, RefSeq DNA:NT_004487, RefSeq Protein:NP_056956, RefSeq RNA:NM_015872, UCSC Genome Browser:NM_015872, UniProtKB:O15156 No chr1 154975106 154991001 155002628 155018525 +PA134861865 201501 HGNC:31700 ENSG00000184828 zinc finger and BTB domain containing 7C ZBTB7C ZBTB36, ZNF857C Yes No Ensembl:ENSG00000184828, GeneCard:ZBTB7C, HGNC:HGNC:31700, ModBase:A1YPR0, NCBI Gene:201501, RefSeq DNA:NT_010966, RefSeq Protein:NP_001034449, RefSeq RNA:NM_001039360, UniProtKB:A1YPR0, UniProtKB:B2RG49 No chr18 45553043 45935793 48026886 48412639 +PA164727627 653121 HGNC:24172 ENSG00000160062 zinc finger and BTB domain containing 8A ZBTB8A BOZF1, FLJ90065, ZBTB8, ZNF916A Yes No Ensembl:ENSG00000160062, GeneCard:ZBTB8A, HGNC:HGNC:24172, ModBase:Q8NAP8, NCBI Gene:653121, RefSeq DNA:NT_032977, RefSeq Protein:NP_001035531, RefSeq RNA:NM_001040441, UniProtKB:Q8NAP8, UniProtKB:Q96BR9 No chr1 33004772 33071542 32539145 32605950 +PA164727642 728116 HGNC:37057 ENSG00000273274 zinc finger and BTB domain containing 8B ZBTB8B DKFZp547H154, RP1-27O5.1, ZNF916B Yes No Ensembl:ENSG00000273274, GeneCard:ZBTB8B, HGNC:HGNC:37057, NCBI Gene:728116, RefSeq DNA:NT_032977, RefSeq Protein:NP_001139192, RefSeq RNA:NM_001145720, UniProtKB:C9JVL8 No chr1 32930658 32953460 32465057 32487859 +PA142670540 339487 HGNC:24094 ENSG00000176261 zinc finger and BTB domain containing 8 opposite strand ZBTB8OS archease ARCH Yes No Comparative Toxicogenomics Database:339487, Ensembl:ENSG00000176261, GeneCard:ZBTB8OS, HGNC:HGNC:24094, NCBI Gene:339487, RefSeq DNA:NT_032977, RefSeq Protein:NP_848642, RefSeq RNA:NM_178547, UniProtKB:A8K0B5, UniProtKB:Q8IWT0 No chr1 33086421 33116565 32620820 32651013 +PA134895172 221504 HGNC:28323 ENSG00000213588, ENSG00000236515 zinc finger and BTB domain containing 9 ZBTB9 MGC23166, ZNF919 Yes No Ensembl:ENSG00000213588, Ensembl:ENSG00000236515, GeneCard:ZBTB9, HGNC:HGNC:28323, ModBase:Q96C00, NCBI Gene:221504, RefSeq DNA:NT_007592, RefSeq DNA:NT_167249, RefSeq Protein:NP_689948, RefSeq RNA:NM_152735, UniProtKB:A2AB19, UniProtKB:Q96C00 No chr6 33422356 33425321 33454579 33457544 +PA162386952 51101 HGNC:24277 ENSG00000104427 zinc finger C2HC-type containing 1A ZC2HC1A zinc finger, C2HC-type containing 1A C8orf70, CGI-62, FAM164A Yes No Ensembl:ENSG00000104427, GeneCard:FAM164A, HGNC:HGNC:24277, HumanCyc Gene:HS12551, NCBI Gene:51101, RefSeq DNA:NT_008183, RefSeq Protein:NP_057094, RefSeq RNA:NM_016010, UniProtKB:B2R9B8, UniProtKB:Q96GY0 No chr8 79578282 79632000 78666047 78719765 +PA165617689 153918 HGNC:21174 ENSG00000118491 zinc finger C2HC-type containing 1B ZC2HC1B zinc finger, C2HC-type containing 1B C6orf94, FAM164B, dJ468K18.5 Yes No Ensembl:ENSG00000118491, GeneCard:C6orf94, HGNC:HGNC:21174, ModBase:Q5TFG8, NCBI Gene:153918, RefSeq DNA:NG_009384, RefSeq DNA:NT_025741, RefSeq DNA:NT_025741.14, RefSeq Protein:NP_001013645, RefSeq Protein:XP_001723090, RefSeq Protein:XP_933750, RefSeq Protein:XP_946358, RefSeq RNA:NM_001013623, RefSeq RNA:NM_001013623.2, RefSeq RNA:XM_001723038, RefSeq RNA:XM_001723038.1, RefSeq RNA:XM_928657, RefSeq RNA:XM_928657.3, RefSeq RNA:XM_941265, RefSeq RNA:XM_941265.2, UniProtKB:Q5TFG8 No chr6 144185573 144259483 143864436 143938346 +PA162386996 79696 HGNC:20354 ENSG00000119703 zinc finger C2HC-type containing 1C ZC2HC1C zinc finger, C2HC-type containing 1C C14orf140, FAM164C Yes No Ensembl:ENSG00000119703, GeneCard:FAM164C, HGNC:HGNC:20354, HumanCyc Gene:HS12953, ModBase:Q53FD0, NCBI Gene:79696, RefSeq DNA:NT_026437, RefSeq Protein:NP_001035895, RefSeq Protein:NP_078919, RefSeq RNA:NM_001042430, RefSeq RNA:NM_024643, UniProtKB:Q53FD0 No chr14 75535935 75544799 75069577 75079987 +PA142670534 84872 HGNC:25893 ENSG00000135482 zinc finger CCCH-type containing 10 ZC3H10 FLJ14451, ZC3HDC10 Yes No Ensembl:ENSG00000135482, GeneCard:ZC3H10, HGNC:HGNC:25893, HumanCyc Gene:HS06018, ModBase:Q96K80, NCBI Gene:84872, RefSeq DNA:NT_029419, RefSeq Protein:NP_116175, RefSeq RNA:NM_032786, UniProtKB:Q96K80 No chr12 56512030 56517143 56118220 56122497 +PA142670535 9877 HGNC:29093 ENSG00000058673 zinc finger CCCH-type containing 11A ZC3H11A KIAA0663, ZC3HDC11A Yes No Comparative Toxicogenomics Database:9877, Ensembl:ENSG00000058673, GeneCard:ZC3H11A, HGNC:HGNC:29093, HumanCyc Gene:HS00724, ModBase:O75152, NCBI Gene:9877, OMIM:613513, RefSeq DNA:NT_004487, RefSeq Protein:NP_055642, RefSeq RNA:NM_014827, UniProtKB:O75152 No chr1 203764665 203823256 203795537 203854128 +PA142670536 643136 HGNC:25659 ENSG00000215817 zinc finger CCCH-type containing 11B ZC3H11B zinc finger CCCH-type containing 11B pseudogene ZC3HDC11B Yes No Ensembl:ENSG00000215817, GeneCard:ZC3H11B, HGNC:HGNC:25659, NCBI Gene:643136, RefSeq DNA:NG_007367, RefSeq DNA:NT_167186 No chr1 219781269 219786487 219607927 219613231 +PA166352268 441155 HGNC:56304 zinc finger CCCH-type containing 11C ZC3H11C Yes No HGNC:HGNC:56304, NCBI Gene:441155 No 0 0 0 0 +PA142670537 80149 HGNC:26259 ENSG00000163874 zinc finger CCCH-type containing 12A ZC3H12A MCP induced protein 1 FLJ23231, MCPIP1, Regnase-1 Yes No Comparative Toxicogenomics Database:80149, Ensembl:ENSG00000163874, GeneCard:ZC3H12A, HGNC:HGNC:26259, HumanCyc Gene:HS15117, ModBase:Q5D1E8, NCBI Gene:80149, OMIM:610562, RefSeq DNA:NT_032977, RefSeq Protein:NP_079355, RefSeq RNA:NM_025079, UniProtKB:Q5D1E8 No chr1 37940119 37949978 37474518 37484377 +PA134942463 340554 HGNC:17407 ENSG00000102053 zinc finger CCCH-type containing 12B ZC3H12B MCP induced protein 2 CXorf32, MCPIP2 Yes No Ensembl:ENSG00000102053, GeneCard:ZC3H12B, HGNC:HGNC:17407, NCBI Gene:340554, RefSeq DNA:NG_021264, RefSeq DNA:NT_011669, RefSeq Protein:NP_001010888, RefSeq RNA:NM_001010888 No chrX 64708058 64727767 65034815 65507887 +PA128394739 85463 HGNC:29362 ENSG00000149289 zinc finger CCCH-type containing 12C ZC3H12C MCP induced protein 3 KIAA1726, MCPIP3 Yes No Comparative Toxicogenomics Database:85463, Ensembl:ENSG00000149289, GeneCard:ZC3H12C, HGNC:HGNC:29362, ModBase:Q9C0D7, NCBI Gene:85463, RefSeq DNA:NT_033899, RefSeq Protein:NP_203748, RefSeq RNA:NM_033390, UniProtKB:Q9C0D7 No chr11 109963673 110042566 110092425 110171841 +PA134867170 340152 HGNC:21175 ENSG00000178199 zinc finger CCCH-type containing 12D ZC3H12D MCP induced protein 4 C6orf95, MCPIP4, dJ281H8.1 Yes No Comparative Toxicogenomics Database:340152, Ensembl:ENSG00000178199, GeneCard:ZC3H12D, HGNC:HGNC:21175, NCBI Gene:340152, OMIM:611106, RefSeq DNA:NT_025741, RefSeq Protein:NP_997243, RefSeq RNA:NM_207360, UniProtKB:A2A288, UniProtKB:B9ZZP9 No chr6 149768766 149806148 149447630 149485012 +PA134907656 23091 HGNC:20368 ENSG00000123200 zinc finger CCCH-type containing 13 ZC3H13 DKFZp434D1812, KIAA0853, Xio Yes No Comparative Toxicogenomics Database:23091, Ensembl:ENSG00000123200, GeneCard:ZC3H13, HGNC:HGNC:20368, HumanCyc Gene:HS13082, ModBase:Q5T200, NCBI Gene:23091, RefSeq DNA:NT_024524, RefSeq Protein:NP_055885, RefSeq RNA:NM_015070, UniProtKB:A0PJJ2, UniProtKB:Q5T200 No chr13 46528600 46626896 45954469 46052785 +PA145007270 79882 HGNC:20509 ENSG00000100722 zinc finger CCCH-type containing 14 ZC3H14 FLJ11806, NY-REN-37, UKp68 Yes No Comparative Toxicogenomics Database:79882, Ensembl:ENSG00000100722, GeneCard:ZC3H14, HGNC:HGNC:20509, HumanCyc Gene:HS02139, ModBase:Q86TW1, NCBI Gene:79882, OMIM:613279, RefSeq DNA:NT_026437, RefSeq Protein:NP_001153575, RefSeq Protein:NP_001153576, RefSeq Protein:NP_079100, RefSeq Protein:NP_997543, RefSeq Protein:NP_997544, RefSeq Protein:NP_997545, RefSeq RNA:NM_001160103, RefSeq RNA:NM_001160104, RefSeq RNA:NM_024824, RefSeq RNA:NM_207660, RefSeq RNA:NM_207661, RefSeq RNA:NM_207662, UniProtKB:B4E2H4, UniProtKB:Q6PJT7 No chr14 89029253 89079853 88562909 88614720 +PA162409508 55854 HGNC:29528 ENSG00000065548 zinc finger CCCH-type containing 15 ZC3H15 likely ortholog of mouse immediate early response, erythropoietin 4 LEREPO4 Yes No Ensembl:ENSG00000065548, GeneCard:ZC3H15, HGNC:HGNC:29528, HumanCyc Gene:HS00846, ModBase:Q8WU90, NCBI Gene:55854, RefSeq DNA:NT_005403, RefSeq Protein:NP_060941, RefSeq RNA:NM_018471, UniProtKB:Q8WU90 No chr2 187350885 187374088 186486158 186509361 +PA162409533 124245 HGNC:25091 ENSG00000158545 zinc finger CCCH-type containing 18 ZC3H18 NHN1 Yes No Ensembl:ENSG00000158545, GeneCard:ZC3H18, HGNC:HGNC:25091, HumanCyc Gene:HS14724, ModBase:Q86VM9, NCBI Gene:124245, RefSeq DNA:NT_010542, RefSeq Protein:NP_653205, RefSeq RNA:NM_144604, UniProtKB:Q86VM9 No chr16 88636789 88698372 88570381 88631964 +PA134933089 23144 HGNC:28972 ENSG00000014164 zinc finger CCCH-type containing 3 ZC3H3 KIAA0150, ZC3HDC3 Yes No Comparative Toxicogenomics Database:23144, Ensembl:ENSG00000014164, GeneCard:ZC3H3, HGNC:HGNC:28972, ModBase:Q8IXZ2, NCBI Gene:23144, RefSeq DNA:NT_008046, RefSeq Protein:NP_055932, RefSeq RNA:NM_015117, UniProtKB:Q8IXZ2 No chr8 144519825 144624449 143437655 143549729 +PA162409534 23211 HGNC:17808 ENSG00000130749 zinc finger CCCH-type containing 4 ZC3H4 C19orf7, KIAA1064 Yes No Ensembl:ENSG00000130749, GeneCard:ZC3H4, HGNC:HGNC:17808, HumanCyc Gene:HS05435, ModBase:Q9UPT8, NCBI Gene:23211, RefSeq DNA:NT_011109, RefSeq Protein:NP_055983, RefSeq RNA:NM_015168, UniProtKB:Q9UPT8 No chr19 47567444 47617009 47064187 47114436 +PA134883473 376940 HGNC:24762 ENSG00000188177 zinc finger CCCH-type containing 6 ZC3H6 FLJ41410, FLJ45877, KIAA2035, ZC3HDC6 Yes No Ensembl:ENSG00000188177, GeneCard:ZC3H6, HGNC:HGNC:24762, ModBase:P61129, NCBI Gene:376940, RefSeq DNA:NT_022135, RefSeq Protein:NP_940983, RefSeq RNA:NM_198581, UniProtKB:Q6ZN12 No chr2 113033178 113097640 112275594 112340063 +PA128394652 29066 HGNC:30959 ENSG00000122299 zinc finger CCCH-type containing 7A ZC3H7A FLJ20318, HSPC055, ZC3H7, ZC3HDC7 Yes No Comparative Toxicogenomics Database:29066, Ensembl:ENSG00000122299, GeneCard:ZC3H7A, HGNC:HGNC:30959, HumanCyc Gene:HS04560, ModBase:Q8IWR0, NCBI Gene:29066, RefSeq DNA:NT_010393, RefSeq Protein:NP_054872, RefSeq RNA:NM_014153, UCSC Genome Browser:NM_014153, UniProtKB:Q8IWR0 No chr16 11844442 11891114 11750586 11797258 +PA142670533 23264 HGNC:30869 ENSG00000100403 zinc finger CCCH-type containing 7B ZC3H7B DKFZp434K0920, FLJ13787, KIAA1031, RoXaN Yes No Ensembl:ENSG00000100403, GeneCard:ZC3H7B, HGNC:HGNC:30869, HumanCyc Gene:HS02074, ModBase:Q9UGR1, NCBI Gene:23264, RefSeq DNA:NT_011520, RefSeq Protein:NP_060060, RefSeq RNA:NM_017590, UniProtKB:Q9UGR2 No chr22 41697507 41756151 41301503 41360147 +PA134956342 84524 HGNC:30941 ENSG00000144161 zinc finger CCCH-type containing 8 ZC3H8 Fliz1, ZC3HDC8 Yes No Comparative Toxicogenomics Database:84524, Ensembl:ENSG00000144161, GeneCard:ZC3H8, HGNC:HGNC:30941, HumanCyc Gene:HS07152, ModBase:Q8N5P1, NCBI Gene:84524, RefSeq DNA:NT_022135, RefSeq Protein:NP_115883, RefSeq RNA:NM_032494, UniProtKB:Q8N5P1 No chr2 112973439 113012664 112215035 112255087 +PA134944289 56829 HGNC:23721 ENSG00000105939 zinc finger CCCH-type containing, antiviral 1 ZC3HAV1 """CCCH-type zinc finger antiviral protein"", ""zinc finger CCCH-type, antiviral 1"", ""zinc finger antiviral protein""" ARTD13, FLB6421, FLJ13288, MGC48898, PARP13, ZAP, ZC3H2, ZC3HDC2 Yes No Ensembl:ENSG00000105939, GeneCard:ZC3HAV1, HGNC:HGNC:23721, HumanCyc Gene:HS02831, ModBase:Q7Z2W4, NCBI Gene:56829, OMIM:607312, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_064504, RefSeq Protein:NP_078901, RefSeq RNA:NM_020119, RefSeq RNA:NM_024625, UniProtKB:Q7Z2W4 No chr7 138728266 138794466 139043519 139109720 +PA145147600 92092 HGNC:22423 ENSG00000146858 zinc finger CCCH-type containing, antiviral 1 like ZC3HAV1L zinc finger CCCH-type, antiviral 1-like C7orf39, MGC14289 Yes No Comparative Toxicogenomics Database:92092, Ensembl:ENSG00000146858, GeneCard:ZC3HAV1L, HGNC:HGNC:22423, HumanCyc Gene:HS14180, ModBase:Q96H79, NCBI Gene:92092, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_542391, RefSeq RNA:NM_080660, UniProtKB:Q96H79 No chr7 138710452 138720775 139021498 139036472 +PA134931869 51530 HGNC:29913 ENSG00000091732 zinc finger C3HC-type containing 1 ZC3HC1 """nuclear interaction partner of ALK"", ""zinc finger, C3HC-type containing 1""" NIPA Yes No Comparative Toxicogenomics Database:51530, Ensembl:ENSG00000091732, GeneCard:ZC3HC1, HGNC:HGNC:29913, HumanCyc Gene:HS12340, ModBase:Q9P0R0, NCBI Gene:51530, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_057562, RefSeq RNA:NM_016478, UniProtKB:Q86WB0, UniProtKB:Q9BWJ8 No chr7 129658126 129691233 130018286 130051451 +PA164727643 55906 HGNC:24931 ENSG00000126970 zinc finger C4H2-type containing ZC4H2 zinc finger, C4H2 domain containing HCA127, KIAA1166, MCS, MRXS4, WWS Yes No Ensembl:ENSG00000126970, GeneCard:ZC4H2, HGNC:HGNC:24931, HumanCyc Gene:HS05066, NCBI Gene:55906, RefSeq DNA:NG_021200, RefSeq DNA:NT_011669, RefSeq Protein:NP_001171503, RefSeq Protein:NP_001171504, RefSeq Protein:NP_061154, RefSeq RNA:NM_001178032, RefSeq RNA:NM_001178033, RefSeq RNA:NM_018684, UniProtKB:B4DED0, UniProtKB:Q9NQZ6 No chrX 64135682 64254624 64915802 65034744 +PA134876515 54819 HGNC:25954 ENSG00000155329 zinc finger CCHC-type containing 10 ZCCHC10 zinc finger, CCHC domain containing 10 FLJ20094 Yes No Comparative Toxicogenomics Database:54819, Ensembl:ENSG00000155329, GeneCard:ZCCHC10, HGNC:HGNC:25954, HumanCyc Gene:HS08042, NCBI Gene:54819, RefSeq DNA:NT_034772, RefSeq Protein:NP_060135, RefSeq RNA:NM_017665, UniProtKB:Q8TBK6 No chr5 132332677 132362275 132996985 133026621 +PA134885304 170261 HGNC:27273 ENSG00000174460 zinc finger CCHC-type containing 12 ZCCHC12 """paraneoplastic Ma antigen family member 7A"", ""zinc finger, CCHC domain containing 12""" FLJ16123, PNMA7A, SIZN, SIZN1 Yes No Ensembl:ENSG00000174460, GeneCard:ZCCHC12, HGNC:HGNC:27273, ModBase:Q6PEW1, NCBI Gene:170261, OMIM:300701, RefSeq DNA:NT_011786, RefSeq Protein:NP_776159, RefSeq RNA:NM_173798, UniProtKB:Q6PEW1 No chrX 117957787 117960931 118823743 118826973 +PA134926925 389874 HGNC:31749 ENSG00000187969 zinc finger CCHC-type containing 13 ZCCHC13 zinc finger, CCHC domain containing 13 4930513O09RIK, Cnbp2, ZNF9L Yes No Ensembl:ENSG00000187969, GeneCard:ZCCHC13, HGNC:HGNC:31749, ModBase:Q8WW36, NCBI Gene:389874, RefSeq DNA:NG_021228, RefSeq DNA:NT_011669, RefSeq Protein:NP_976048, RefSeq RNA:NM_203303, UniProtKB:Q8WW36 No chrX 73524025 73524869 74304190 74305034 +PA134895795 23174 HGNC:24134 ENSG00000140948 zinc finger CCHC-type containing 14 ZCCHC14 zinc finger, CCHC domain containing 14 BDG29, MGC14139 Yes No Comparative Toxicogenomics Database:23174, Ensembl:ENSG00000140948, GeneCard:ZCCHC14, HGNC:HGNC:24134, HumanCyc Gene:HS06779, ModBase:Q8WYQ9, NCBI Gene:23174, RefSeq DNA:NT_010498, RefSeq Protein:NP_055959, RefSeq RNA:NM_015144, UniProtKB:Q8WYQ9 No chr16 87439852 87525870 87406246 87492948 +PA142670539 51538 HGNC:30246 ENSG00000121766 zinc finger CCHC-type containing 17 ZCCHC17 zinc finger, CCHC domain containing 17 HSPC251, PS1D, pNO40 Yes No Comparative Toxicogenomics Database:51538, Ensembl:ENSG00000121766, GeneCard:ZCCHC17, HGNC:HGNC:30246, HumanCyc Gene:HS04520, ModBase:Q9NP64, NCBI Gene:51538, RefSeq DNA:NT_032977, RefSeq Protein:NP_057589, RefSeq RNA:NM_016505, UniProtKB:Q9NP64 No chr1 31769832 31838569 31296982 31365764 +PA162409569 644353 HGNC:32459 ENSG00000166707 zinc finger CCHC-type containing 18 ZCCHC18 """paraneoplastic Ma antigen family member 7B"", ""zinc finger, CCHC domain containing 18""" PNMA7B, SIZN2 Yes No Ensembl:ENSG00000166707, GeneCard:ZCCHC18, HGNC:HGNC:32459, NCBI Gene:644353, RefSeq DNA:NT_011651, RefSeq Protein:NP_001137450, RefSeq RNA:NM_001143978, RefSeq RNA:NR_026694, UniProtKB:P0CG32 No chrX 103357107 103360533 104112416 104121330 +PA134861180 54877 HGNC:22916 ENSG00000141664 zinc finger CCHC-type containing 2 ZCCHC2 zinc finger, CCHC domain containing 2 C18orf49, FLJ20222, FLJ20281, KIAA1744 Yes No Ensembl:ENSG00000141664, GeneCard:ZCCHC2, HGNC:HGNC:22916, NCBI Gene:54877, RefSeq DNA:NT_025028, RefSeq Protein:NP_060212, RefSeq RNA:NM_017742, UniProtKB:Q9C0B9 No chr18 60190658 60254942 62523410 62587709 +PA162409573 219654 HGNC:26911 ENSG00000165424 zinc finger CCHC-type containing 24 ZCCHC24 """zinc finger, 3CxxC-type 8"", ""zinc finger, CCHC domain containing 24""" C10orf56, FLJ90798, Z3CXXC8 Yes No Ensembl:ENSG00000165424, GeneCard:ZCCHC24, HGNC:HGNC:26911, HumanCyc Gene:HS09230, NCBI Gene:219654, RefSeq DNA:NT_030059, RefSeq Protein:NP_699198, RefSeq RNA:NM_153367, UniProtKB:Q8N2G6 No chr10 81142081 81205383 79382325 79445627 +PA25806 85364 HGNC:16230 ENSG00000247315 zinc finger CCHC-type containing 3 ZCCHC3 zinc finger, CCHC domain containing 3 C20orf99, dJ1103G7.7 Yes No Ensembl:ENSG00000247315, GenAtlas:ZCCHC3, GeneCard:ZCCHC3, HGNC:HGNC:16230, HumanCyc Gene:HS11214, ModBase:Q9NUD5, NCBI Gene:85364, RefSeq DNA:NT_011387, RefSeq Protein:NP_149080, RefSeq RNA:NM_033089, UCSC Genome Browser:NM_033089, UniProtKB:Q9NUD5 No chr20 278204 280965 297563 300321 +PA134950003 29063 HGNC:22917 ENSG00000168228 zinc finger CCHC-type containing 4 ZCCHC4 """rRNA N6-adenosine-methyltransferase ZCCHC4"", ""zinc finger, CCHC domain containing 4"", ""zinc finger, GRF-type containing 4""" FLJ23024, HSPC052, ZGRF4 Yes No Comparative Toxicogenomics Database:29063, Ensembl:ENSG00000168228, GeneCard:ZCCHC4, HGNC:HGNC:22917, HumanCyc Gene:HS09711, ModBase:Q9H5U6, NCBI Gene:29063, OMIM:611792, RefSeq DNA:NT_006316, RefSeq Protein:NP_079212, RefSeq RNA:NM_024936, UniProtKB:Q9H5U6 No chr4 25314396 25374190 25312774 25373176 +PA128394734 84186 HGNC:26209 ENSG00000147905 zinc finger CCHC-type containing 7 ZCCHC7 zinc finger, CCHC domain containing 7 AIR1, FLJ22611 Yes No Ensembl:ENSG00000147905, GeneCard:ZCCHC7, HGNC:HGNC:26209, HumanCyc Gene:HS07483, ModBase:Q9H648, NCBI Gene:84186, RefSeq DNA:NT_008413, RefSeq Protein:NP_115602, RefSeq RNA:NM_032226, UCSC Genome Browser:NM_032226, UniProtKB:Q05DN1, UniProtKB:Q8N3Z6 No chr9 37120161 37358146 37120169 37358149 +PA134889410 55596 HGNC:25265 ENSG00000033030 zinc finger CCHC-type containing 8 ZCCHC8 zinc finger, CCHC domain containing 8 DKFZp434E2220 Yes No Ensembl:ENSG00000033030, GeneCard:ZCCHC8, HGNC:HGNC:25265, HumanCyc Gene:HS00488, ModBase:Q6NZY4, NCBI Gene:55596, RefSeq DNA:NT_009755, RefSeq Protein:NP_060082, RefSeq RNA:NM_017612, UniProtKB:Q6NZY4 No chr12 122956146 122985543 122471599 122501073 +PA134931870 84240 HGNC:25424 ENSG00000131732 zinc finger CCHC-type containing 9 ZCCHC9 """protein phosphatase 1, regulatory subunit 41"", ""zinc finger, CCHC domain containing 9""" DKFZp761J139, PPP1R41 Yes No Ensembl:ENSG00000131732, GeneCard:ZCCHC9, HGNC:HGNC:25424, HumanCyc Gene:HS05556, ModBase:Q8N567, NCBI Gene:84240, RefSeq DNA:NT_006713, RefSeq Protein:NP_001124507, RefSeq Protein:NP_001124508, RefSeq Protein:NP_115656, RefSeq RNA:NM_001131035, RefSeq RNA:NM_001131036, RefSeq RNA:NM_032280, UniProtKB:Q8N567 No chr5 80597402 80608966 81301583 81313147 +PA143485674 85437 HGNC:29620 ENSG00000139168 zinc finger CCHC-type and RNA binding motif containing 1 ZCRB1 U11/U12 snRNP 31K, zinc finger CCHC-type and RNA binding motif 1 MADP-1, MADP1, RBM36, SNRNP31, ZCCHC19 Yes No Ensembl:ENSG00000139168, GeneCard:ZCRB1, HGNC:HGNC:29620, HumanCyc Gene:HS06587, ModBase:Q8TBF4, NCBI Gene:85437, OMIM:610750, RefSeq DNA:NT_029419, RefSeq Protein:NP_149105, RefSeq RNA:NM_033114, UniProtKB:Q8TBF4 No chr12 42705888 42719932 42312086 42326130 +PA134913967 55063 HGNC:23486 ENSG00000078487 zinc finger CW-type and PWWP domain containing 1 ZCWPW1 zinc finger, CW type with PWWP domain 1 DKFZp434N0510, FLJ10057, ZCW1 Yes No Ensembl:ENSG00000078487, GeneCard:ZCWPW1, HGNC:HGNC:23486, HumanCyc Gene:HS12251, ModBase:Q9H0M4, NCBI Gene:55063, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_060454, RefSeq RNA:NM_017984, UniProtKB:Q9H0M4 No chr7 99998449 100027037 100400826 100429239 +PA134888742 152098 HGNC:23574 ENSG00000206559 zinc finger CW-type and PWWP domain containing 2 ZCWPW2 zinc finger, CW type with PWWP domain 2 ZCW2 Yes No Ensembl:ENSG00000206559, GeneCard:ZCWPW2, HGNC:HGNC:23574, ModBase:Q504Y3, NCBI Gene:152098, RefSeq DNA:NT_022517, RefSeq Protein:NP_001035522, RefSeq RNA:NM_001040432, UniProtKB:Q504Y3 No chr3 28390372 28566633 28349149 28526366 +PA162409574 57683 HGNC:29313 ENSG00000204186 zinc finger DBF-type containing 2 ZDBF2 zinc finger, DBF-type containing 2 FLJ45338, KIAA1571, Slx9 Yes No Ensembl:ENSG00000204186, GeneCard:ZDBF2, HGNC:HGNC:29313, ModBase:Q9HCK1, NCBI Gene:57683, RefSeq DNA:NT_005403, RefSeq Protein:NP_065974, RefSeq RNA:NM_020923, UniProtKB:Q9HCK1 No chr2 207139523 207179162 206274641 206314438 +PA38261 29800 HGNC:17916 ENSG00000159714 zinc finger DHHC-type containing 1 ZDHHC1 zinc finger, DHHC-type containing 1 C16orf1, HSU90653, ZNF377 Yes No Ensembl:ENSG00000159714, GenAtlas:ZDHHC1, GeneCard:ZDHHC1, HGNC:HGNC:17916, HumanCyc Gene:HS14779, NCBI Gene:29800, RefSeq DNA:NT_010498, RefSeq Protein:NP_037436, RefSeq RNA:NM_013304, UCSC Genome Browser:NM_013304, UniProtKB:Q8WTX9 No chr16 67428322 67450339 67394419 67416494 +PA38801 79844 HGNC:19158 ENSG00000188818 zinc finger DHHC-type containing 11 ZDHHC11 zinc finger, DHHC-type containing 11 FLJ13153, ZNF399 Yes No Ensembl:ENSG00000188818, GenAtlas:ZDHHC11, GeneCard:ZDHHC11, HGNC:HGNC:19158, ModBase:Q9H8X9, NCBI Gene:79844, RefSeq DNA:NT_006576, RefSeq Protein:NP_079062, RefSeq RNA:NM_024786, UCSC Genome Browser:NM_024786, UniProtKB:Q9H8X9 No chr5 795720 859088 795605 863634 +PA147357087 653082 HGNC:32962 ENSG00000206077 zinc finger DHHC-type containing 11B ZDHHC11B zinc finger, DHHC-type containing 11B Yes No Ensembl:ENSG00000206077, GeneCard:ZDHHC11B, HGNC:HGNC:32962, ModBase:P0C7U3, NCBI Gene:653082, RefSeq DNA:NT_006576, RefSeq Protein:XP_001716486, RefSeq Protein:XP_003118580, RefSeq Protein:XP_931146, RefSeq RNA:XM_001716434, RefSeq RNA:XM_003118532, RefSeq RNA:XM_926053 No chr5 710470 784857 710355 784749 +PA38802 84885 HGNC:19159 ENSG00000160446 zinc finger DHHC-type palmitoyltransferase 12 ZDHHC12 """zinc finger DHHC-type containing 12"", ""zinc finger, DHHC-type containing 12""" FLJ14524, ZNF400 Yes No Ensembl:ENSG00000160446, GenAtlas:ZDHHC12, GeneCard:ZDHHC12, HGNC:HGNC:19159, HumanCyc Gene:HS14813, NCBI Gene:84885, RefSeq DNA:NT_008470, RefSeq Protein:NP_116188, RefSeq RNA:NM_032799, UCSC Genome Browser:NM_032799, UniProtKB:Q96GR4 No chr9 131483148 131486451 128720869 128724138 +PA134955878 54503 HGNC:18413 ENSG00000177054 zinc finger DHHC-type palmitoyltransferase 13 ZDHHC13 """zinc finger DHHC-type containing 13"", ""zinc finger, DHHC-type containing 13""" FLJ10852, FLJ10941, HIP14L Yes No Comparative Toxicogenomics Database:54503, Ensembl:ENSG00000177054, GeneCard:ZDHHC13, HGNC:HGNC:18413, HumanCyc Gene:HS16782, ModBase:Q8IUH4, NCBI Gene:54503, OMIM:612815, RefSeq DNA:NT_009237, RefSeq Protein:NP_001001483, RefSeq Protein:NP_061901, RefSeq RNA:NM_001001483, RefSeq RNA:NM_019028, UniProtKB:Q8IUH4 No chr11 19138681 19197967 19117099 19176420 +PA134935513 79683 HGNC:20341 ENSG00000175048 zinc finger DHHC-type palmitoyltransferase 14 ZDHHC14 """zinc finger DHHC-type containing 14"", ""zinc finger, DHHC-type containing 14""" FLJ20984, NEW1CP Yes No Comparative Toxicogenomics Database:79683, Ensembl:ENSG00000175048, GeneCard:ZDHHC14, HGNC:HGNC:20341, HumanCyc Gene:HS16426, ModBase:Q8IZN3, NCBI Gene:79683, RefSeq DNA:NT_025741, RefSeq Protein:NP_078906, RefSeq Protein:NP_714968, RefSeq RNA:NM_024630, RefSeq RNA:NM_153746, UniProtKB:Q8IZN3 No chr6 157802557 158098293 157381525 157678114 +PA134945089 158866 HGNC:20342 ENSG00000102383 zinc finger DHHC-type palmitoyltransferase 15 ZDHHC15 """Mental retardation, X-linked 91"", ""zinc finger DHHC-type containing 15"", ""zinc finger, DHHC-type containing 15""" DHHC15, FLJ31812, MRX91 Yes No Comparative Toxicogenomics Database:158866, Ensembl:ENSG00000102383, GeneCard:ZDHHC15, HGNC:HGNC:20342, HumanCyc Gene:HS12481, ModBase:Q96MV8, NCBI Gene:158866, OMIM:300576, OMIM:300577, RefSeq DNA:NG_012974, RefSeq DNA:NT_011669, RefSeq Protein:NP_001139728, RefSeq Protein:NP_001139729, RefSeq Protein:NP_659406, RefSeq RNA:NM_001146256, RefSeq RNA:NM_001146257, RefSeq RNA:NM_144969, UniProtKB:B3KVG7, UniProtKB:B3KY34, UniProtKB:Q96MV8 No chrX 74588262 74743337 75368427 75523626 +PA134985701 84287 HGNC:20714 ENSG00000171307 zinc finger DHHC-type palmitoyltransferase 16 ZDHHC16 """zinc finger DHHC-type containing 16"", ""zinc finger, DHHC-type containing 16""" APH2 Yes No Comparative Toxicogenomics Database:84287, Ensembl:ENSG00000171307, GeneCard:ZDHHC16, HGNC:HGNC:20714, HumanCyc Gene:HS15975, ModBase:Q969W1, NCBI Gene:84287, RefSeq DNA:NT_030059, RefSeq Protein:NP_115703, RefSeq Protein:NP_932160, RefSeq Protein:NP_932161, RefSeq Protein:NP_932162, RefSeq Protein:NP_932163, RefSeq RNA:NM_032327, RefSeq RNA:NM_198043, RefSeq RNA:NM_198044, RefSeq RNA:NM_198045, RefSeq RNA:NM_198046, UniProtKB:Q969W1 No chr10 99205900 99217127 97446131 97457370 +PA134991292 23390 HGNC:18412 ENSG00000186908 zinc finger DHHC-type palmitoyltransferase 17 ZDHHC17 """zinc finger DHHC-type containing 17"", ""zinc finger, DHHC-type containing 17""" HIP14, HYPH, KIAA0946 Yes No Ensembl:ENSG00000186908, GeneCard:ZDHHC17, HGNC:HGNC:18412, ModBase:Q8IUH5, NCBI Gene:23390, OMIM:607799, RefSeq DNA:NT_029419, RefSeq Protein:NP_056151, RefSeq RNA:NM_015336, UniProtKB:Q8IUH5 No chr12 77157854 77247481 76764074 76853701 +PA134968241 84243 HGNC:20712 ENSG00000204160 zinc finger DHHC-type palmitoyltransferase 18 ZDHHC18 """zinc finger DHHC-type containing 18"", ""zinc finger, DHHC-type containing 18""" DKFZp667O2416 Yes No Comparative Toxicogenomics Database:84243, Ensembl:ENSG00000204160, GeneCard:ZDHHC18, HGNC:HGNC:20712, ModBase:Q9NUE0, NCBI Gene:84243, RefSeq DNA:NT_004610, RefSeq Protein:NP_115659, RefSeq RNA:NM_032283, UniProtKB:Q9NUE0 No chr1 27153201 27184092 26826710 26855720 +PA134871748 131540 HGNC:20713 ENSG00000163958 zinc finger DHHC-type palmitoyltransferase 19 ZDHHC19 """zinc finger DHHC-type containing 19"", ""zinc finger, DHHC-type containing 19""" MGC33345 Yes No Ensembl:ENSG00000163958, GeneCard:ZDHHC19, HGNC:HGNC:20713, HumanCyc Gene:HS08975, ModBase:Q8WVZ1, NCBI Gene:131540, RefSeq DNA:NT_029928, RefSeq Protein:NP_001034706, RefSeq RNA:NM_001039617, UniProtKB:Q8WVZ1 No chr3 195924323 195938308 196197443 196211437 +PA38336 51201 HGNC:18469 ENSG00000104219 zinc finger DHHC-type palmitoyltransferase 2 ZDHHC2 """zinc finger DHHC-type containing 2"", ""zinc finger, DHHC-type containing 2""" DHHC2, ZNF372 Yes No Comparative Toxicogenomics Database:51201, Ensembl:ENSG00000104219, GenAtlas:ZDHHC2, GeneCard:ZDHHC2, HGNC:HGNC:18469, HumanCyc Gene:HS12546, ModBase:Q9UIJ5, NCBI Gene:51201, RefSeq DNA:NT_167187, RefSeq Protein:NP_057437, RefSeq RNA:NM_016353, UCSC Genome Browser:NM_016353, UniProtKB:Q9UIJ5 No chr8 17013836 17080241 17156001 17225782 +PA134880838 253832 HGNC:20749 ENSG00000180776 zinc finger DHHC-type palmitoyltransferase 20 ZDHHC20 """zinc finger DHHC-type containing 20"", ""zinc finger, DHHC-type containing 20""" DHHC20, FLJ25952 Yes No Comparative Toxicogenomics Database:253832, Ensembl:ENSG00000180776, GeneCard:ZDHHC20, HGNC:HGNC:20749, NCBI Gene:253832, RefSeq DNA:NT_024524, RefSeq Protein:NP_694983, RefSeq RNA:NM_153251, UniProtKB:C9JG20 No chr13 21946710 22033508 21372571 21459370 +PA134919189 340481 HGNC:20750 ENSG00000175893 zinc finger DHHC-type palmitoyltransferase 21 ZDHHC21 """zinc finger DHHC-type containing 21"", ""zinc finger, DHHC-type containing 21""" DHHC21, DNZ1, HSPC097 Yes No Comparative Toxicogenomics Database:340481, Ensembl:ENSG00000175893, GeneCard:ZDHHC21, HGNC:HGNC:20750, NCBI Gene:340481, RefSeq DNA:NT_008413, RefSeq Protein:NP_848661, RefSeq RNA:NM_178566, UniProtKB:Q8IVQ6 No chr9 14611069 14693480 14588797 14693531 +PA134952477 283576 HGNC:20106 ENSG00000177108 zinc finger DHHC-type palmitoyltransferase 22 ZDHHC22 """zinc finger DHHC-type containing 22"", ""zinc finger, DHHC-type containing 22""" C14orf59 Yes No Comparative Toxicogenomics Database:283576, Ensembl:ENSG00000177108, GeneCard:ZDHHC22, HGNC:HGNC:20106, HumanCyc Gene:HS16789, ModBase:Q8N966, NCBI Gene:283576, RefSeq DNA:NT_026437, RefSeq Protein:NP_777636, RefSeq RNA:NM_174976, UniProtKB:Q8N966 No chr14 77597613 77608134 77131270 77146265 +PA134960347 254887 HGNC:28654 ENSG00000184307 zinc finger DHHC-type palmitoyltransferase 23 ZDHHC23 """zinc finger DHHC-type containing 23"", ""zinc finger, DHHC-type containing 23""" MGC42530 Yes No Ensembl:ENSG00000184307, GeneCard:ZDHHC23, HGNC:HGNC:28654, ModBase:Q8IYP9, NCBI Gene:254887, RefSeq DNA:NT_005612, RefSeq Protein:NP_775841, RefSeq RNA:NM_173570, UniProtKB:Q8IYP9 No chr3 113666748 113705706 113947901 113998002 +PA142670531 254359 HGNC:27387 ENSG00000174165 zinc finger DHHC-type containing 24 ZDHHC24 zinc finger, DHHC-type containing 24 Yes No Comparative Toxicogenomics Database:254359, Ensembl:ENSG00000174165, GeneCard:ZDHHC24, HGNC:HGNC:27387, ModBase:Q6UX98, NCBI Gene:254359, RefSeq DNA:NT_167190, RefSeq Protein:NP_997223, RefSeq RNA:NM_207340, UniProtKB:Q6UX98 No chr11 66288854 66313709 66520625 66546200 +PA38544 51304 HGNC:18470 ENSG00000163812 zinc finger DHHC-type palmitoyltransferase 3 ZDHHC3 """golgi-specific DHHC Zinc Finger Protein"", ""zinc finger DHHC-type containing 3"", ""zinc finger, DHHC-type containing 3""" DHHC3, GODZ, ZNF373 Yes Yes Comparative Toxicogenomics Database:51304, Ensembl:ENSG00000163812, GenAtlas:ZDHHC3, GeneCard:ZDHHC3, HGNC:HGNC:18470, HumanCyc Gene:HS08944, ModBase:Q9NYG2, NCBI Gene:51304, RefSeq DNA:NT_022517, RefSeq Protein:NP_001128651, RefSeq Protein:NP_001128652, RefSeq Protein:NP_057682, RefSeq RNA:NM_001135179, RefSeq RNA:NM_001135180, RefSeq RNA:NM_016598, UCSC Genome Browser:NM_016598, UniProtKB:B4DSK2, UniProtKB:Q9NYG2 No chr3 44956753 45017674 44915261 44976190 +PA38337 55146 HGNC:18471 ENSG00000136247 zinc finger DHHC-type palmitoyltransferase 4 ZDHHC4 """zinc finger DHHC-type containing 4"", ""zinc finger, DHHC-type containing 4""" FLJ10479, ZNF374 Yes No Ensembl:ENSG00000136247, GenAtlas:ZDHHC4, GeneCard:ZDHHC4, HGNC:HGNC:18471, HumanCyc Gene:HS13621, ModBase:Q9NPG8, NCBI Gene:55146, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001127859, RefSeq Protein:NP_001127860, RefSeq Protein:NP_001127861, RefSeq Protein:NP_060576, RefSeq RNA:NM_001134387, RefSeq RNA:NM_001134388, RefSeq RNA:NM_001134389, RefSeq RNA:NM_018106, UCSC Genome Browser:NM_018106, UniProtKB:Q9NPG8 No chr7 6617065 6628610 6577413 6588996 +PA38338 25921 HGNC:18472 ENSG00000156599 zinc finger DHHC-type palmitoyltransferase 5 ZDHHC5 """Zinc finger protein 375"", ""zinc finger DHHC-type containing 5"", ""zinc finger, DHHC-type containing 5""" DHHC5, KIAA1748, ZNF375 Yes No Comparative Toxicogenomics Database:25921, Ensembl:ENSG00000156599, GenAtlas:ZDHHC5, GeneCard:ZDHHC5, HGNC:HGNC:18472, HumanCyc Gene:HS14626, ModBase:Q9C0B5, NCBI Gene:25921, RefSeq DNA:NT_167190, RefSeq Protein:NP_056272, RefSeq RNA:NM_015457, UniProtKB:Q2TGF0, UniProtKB:Q9C0B5 No chr11 57435223 57468659 57667836 57701187 +PA38803 64429 HGNC:19160 ENSG00000023041 zinc finger DHHC-type palmitoyltransferase 6 ZDHHC6 """zinc finger DHHC-type containing 6"", ""zinc finger, DHHC-type containing 6""" FLJ21952, ZNF376 Yes No Ensembl:ENSG00000023041, GenAtlas:ZDHHC6, GeneCard:ZDHHC6, HGNC:HGNC:19160, HumanCyc Gene:HS12068, ModBase:Q9H6R6, NCBI Gene:64429, RefSeq DNA:NT_030059, RefSeq Protein:NP_071939, RefSeq RNA:NM_022494, UCSC Genome Browser:NM_022494, UniProtKB:Q9H6R6 No chr10 114190058 114207301 112424411 112448335 +PA38335 55625 HGNC:18459 ENSG00000153786 zinc finger DHHC-type palmitoyltransferase 7 ZDHHC7 """Sertoli cell gene with zinc finger domain-β"", ""Sertoli cell gene with zinc finger domain-β"", ""Sertoli cell gene with zinc finger domain-ß"", ""zinc finger DHHC-type containing 7"", ""zinc finger, DHHC-type containing 7""" DHHC7, FLJ10792, FLJ20279, SERZ-B, SERZ1, ZNF370 Yes Yes Comparative Toxicogenomics Database:55625, Ensembl:ENSG00000153786, GenAtlas:ZDHHC7, GeneCard:ZDHHC7, HGNC:HGNC:18459, HumanCyc Gene:HS14483, NCBI Gene:55625, RefSeq DNA:NT_010498, RefSeq Protein:NP_001139020, RefSeq Protein:NP_060210, RefSeq RNA:NM_001145548, RefSeq RNA:NM_017740, UCSC Genome Browser:NM_017740, UniProtKB:Q9NXF8 No chr16 85008066 85045141 84974460 85011732 +PA38339 29801 HGNC:18474 ENSG00000099904 zinc finger DHHC-type palmitoyltransferase 8 ZDHHC8 """Zinc finger protein 378"", ""zinc finger DHHC-type containing 8"", ""zinc finger, DHHC-type containing 8""" DHHC8, KIAA1292, ZNF378 Yes No Comparative Toxicogenomics Database:29801, Ensembl:ENSG00000099904, GenAtlas:ZDHHC8, GeneCard:ZDHHC8, HGNC:HGNC:18474, HumanCyc Gene:HS12377, ModBase:Q9ULC8, NCBI Gene:29801, OMIM:608784, RefSeq DNA:NG_021420, RefSeq DNA:NT_011519, RefSeq Protein:NP_001171953, RefSeq Protein:NP_037505, RefSeq RNA:NM_001185024, RefSeq RNA:NM_013373, UCSC Genome Browser:NM_013373, UniProtKB:B7WP06, UniProtKB:Q9ULC8 No chr22 20119364 20135530 20131841 20148007 +PA38340 51114 HGNC:18475 ENSG00000188706 zinc finger DHHC-type palmitoyltransferase 9 ZDHHC9 """Zinc finger protein 379"", ""Zinc finger protein 380"", ""zinc finger DHHC-type containing 9"", ""zinc finger, DHHC-type containing 9""" CGI-89, CXorf11, DHHC9, ZDHHC10, ZNF379, ZNF380 Yes No Comparative Toxicogenomics Database:51114, Ensembl:ENSG00000188706, GenAtlas:ZDHHC9, GeneCard:ZDHHC9, HGNC:HGNC:18475, NCBI Gene:51114, OMIM:300646, OMIM:300799, RefSeq DNA:NG_021387, RefSeq DNA:NT_011786, RefSeq Protein:NP_001008223, RefSeq Protein:NP_057116, RefSeq RNA:NM_001008222, RefSeq RNA:NM_016032, UCSC Genome Browser:NM_016032, UniProtKB:Q9Y397 No chrX 128937264 128977910 129803288 129843934 +PA162409589 6935 HGNC:11642 ENSG00000148516 zinc finger E-box binding homeobox 1 ZEB1 AREB6, BZP, FECD6, NIL-2-A, PPCD3, TCF8, ZEB, Zfhep, Zfhx1a Yes No Ensembl:ENSG00000148516, GeneCard:ZEB1, HGNC:HGNC:11642, HumanCyc Gene:HS07536, ModBase:P37275, NCBI Gene:6935, OMIM:189909, OMIM:609141, OMIM:613270, RefSeq DNA:NG_017048, RefSeq DNA:NT_008705, RefSeq Protein:NP_001121600, RefSeq Protein:NP_001167564, RefSeq Protein:NP_001167565, RefSeq Protein:NP_001167566, RefSeq Protein:NP_001167567, RefSeq Protein:NP_110378, RefSeq RNA:NM_001128128, RefSeq RNA:NM_001174093, RefSeq RNA:NM_001174094, RefSeq RNA:NM_001174095, RefSeq RNA:NM_001174096, RefSeq RNA:NM_030751, RefSeq RNA:NR_024285, RefSeq RNA:NR_024286, RefSeq RNA:NR_024287, UniProtKB:B2RBI8, UniProtKB:B4DUW9, UniProtKB:P37275, UniProtKB:Q2KJ05, UniProtKB:Q5VZ84 No chr10 31607825 31818742 31318495 31529814 +PA162409612 9839 HGNC:14881 ENSG00000169554 zinc finger E-box binding homeobox 2 ZEB2 SMAD interacting protein 1 KIAA0569, SIP-1, SIP1, ZFHX1B Yes No Ensembl:ENSG00000169554, GeneCard:ZEB2, HGNC:HGNC:14881, HumanCyc Gene:HS09965, ModBase:O60315, NCBI Gene:9839, OMIM:235730, OMIM:605802, RefSeq DNA:NG_016431, RefSeq DNA:NT_022135, RefSeq Protein:NP_001165124, RefSeq Protein:NP_055610, RefSeq RNA:NM_001171653, RefSeq RNA:NM_014795, RefSeq RNA:NR_033258, UniProtKB:B7Z2P2, UniProtKB:O60315 No chr2 145141942 145277958 144384375 144520391 +PA165697844 100303491 HGNC:37149 ENSG00000238057 ZEB2 antisense RNA 1 ZEB2-AS1 ZEB2 natural antisense transcript ZEB2NAT Yes No Ensembl:ENSG00000238057, GeneCard:ZEB2-AS1, HGNC:HGNC:37149, NCBI Gene:100303491 No chr2 145277181 145278466 144519614 144520899 +PA162409637 10444 HGNC:30960 ENSG00000160445 zyg-11 related cell cycle regulator ZER1 zyg-11 related, cell cycle regulator C9orf60, Hzyg, ZYG, ZYG11BL Yes No Ensembl:ENSG00000160445, GeneCard:ZER1, HGNC:HGNC:30960, HumanCyc Gene:HS14812, NCBI Gene:10444, RefSeq DNA:NT_008470, RefSeq Protein:NP_006327, RefSeq RNA:NM_006336, UniProtKB:Q7Z7L7 No chr9 131492065 131534220 128729786 128772507 +PA142670532 79752 HGNC:25858 ENSG00000104231 zinc finger AN1-type containing 1 ZFAND1 zinc finger, AN1-type domain 1 FLJ14007 Yes No Comparative Toxicogenomics Database:79752, Ensembl:ENSG00000104231, GeneCard:ZFAND1, HGNC:HGNC:25858, HumanCyc Gene:HS02556, ModBase:Q8TCF1, NCBI Gene:79752, RefSeq DNA:NT_008183, RefSeq Protein:NP_001164267, RefSeq Protein:NP_001164268, RefSeq Protein:NP_078975, RefSeq RNA:NM_001170796, RefSeq RNA:NM_001170797, RefSeq RNA:NM_024699, RefSeq RNA:NR_033193, RefSeq RNA:NR_033194, RefSeq RNA:NR_033195, RefSeq RNA:NR_033196, UniProtKB:Q8TCF1 No chr8 82613566 82633539 81701331 81721304 +PA142670526 90637 HGNC:28073 ENSG00000178381 zinc finger AN1-type containing 2A ZFAND2A """arsenite inducible RNA associated protein"", ""zinc finger, AN1-type domain 2A""" AIRAP Yes No Comparative Toxicogenomics Database:90637, Ensembl:ENSG00000178381, GeneCard:ZFAND2A, HGNC:HGNC:28073, ModBase:Q8N6M9, NCBI Gene:90637, OMIM:610699, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_872297, RefSeq RNA:NM_182491, UniProtKB:Q8N6M9 No chr7 1192543 1199855 1148850 1160219 +PA142670527 130617 HGNC:25206 ENSG00000158552 zinc finger AN1-type containing 2B ZFAND2B """arsenite inducible RNA associated protein-like"", ""zinc finger, AN1-type domain 2B""" AIRAPL Yes No Comparative Toxicogenomics Database:130617, Ensembl:ENSG00000158552, GeneCard:ZFAND2B, HGNC:HGNC:25206, HumanCyc Gene:HS08307, ModBase:Q8WV99, NCBI Gene:130617, OMIM:613474, RefSeq DNA:NT_005403, RefSeq Protein:NP_620157, RefSeq RNA:NM_138802, UniProtKB:Q8WV99 No chr2 220071506 220074373 219206784 219209651 +PA38277 60685 HGNC:18019 ENSG00000156639 zinc finger AN1-type containing 3 ZFAND3 zinc finger, AN1-type domain 3 FLJ13222, TEX27 Yes Yes Comparative Toxicogenomics Database:60685, Ensembl:ENSG00000156639, GenAtlas:ZFAND3, GeneCard:ZFAND3, HGNC:HGNC:18019, HumanCyc Gene:HS08143, ModBase:Q9H8U3, NCBI Gene:60685, OMIM:607455, RefSeq DNA:NT_007592, RefSeq Protein:NP_068762, RefSeq RNA:NM_021943, UCSC Genome Browser:NM_021943, UniProtKB:Q9H8U3 No chr6 37787272 38161637 37819496 38154624 +PA134976557 93550 HGNC:23504 ENSG00000172671 zinc finger AN1-type containing 4 ZFAND4 zinc finger, AN1-type domain 4 ANUBL1, FLJ40185 Yes No Comparative Toxicogenomics Database:93550, Ensembl:ENSG00000172671, GeneCard:ANUBL1, HGNC:HGNC:23504, ModBase:Q86XD8, NCBI Gene:93550, RefSeq DNA:NT_033985, RefSeq Protein:NP_001121796, RefSeq Protein:NP_777550, RefSeq RNA:NM_001128324, RefSeq RNA:NM_174890, UniProtKB:Q86XD8 No chr10 46111039 46168251 45614567 45672962 +PA37587 7763 HGNC:13008 ENSG00000107372 zinc finger AN1-type containing 5 ZFAND5 zinc finger, AN1-type domain 5 ZA20D2, ZFAND5A, ZNF216 Yes No Comparative Toxicogenomics Database:7763, Ensembl:ENSG00000107372, GenAtlas:ZFAND5, GeneCard:ZFAND5, HGNC:HGNC:13008, HumanCyc Gene:HS02995, ModBase:O76080, NCBI Gene:7763, OMIM:604761, RefSeq DNA:NT_008470, RefSeq Protein:NP_001095890, RefSeq Protein:NP_001095891, RefSeq Protein:NP_005998, RefSeq RNA:NM_001102420, RefSeq RNA:NM_001102421, RefSeq RNA:NM_006007, UCSC Genome Browser:NM_006007, UniProtKB:O76080 No chr9 74966341 74980163 72351425 72365247 +PA134883256 54469 HGNC:30164 ENSG00000086666 zinc finger AN1-type containing 6 ZFAND6 """protein associated with PRK1"", ""zinc finger, AN1-type domain 6""" AWP1, ZA20D3, ZFAND5B Yes No Comparative Toxicogenomics Database:54469, Ensembl:ENSG00000086666, GeneCard:ZFAND6, HGNC:HGNC:30164, HumanCyc Gene:HS01539, ModBase:Q6FIF0, NCBI Gene:54469, OMIM:610183, RefSeq DNA:NT_010194, RefSeq Protein:NP_001229840, RefSeq Protein:NP_001229841, RefSeq Protein:NP_001229842, RefSeq Protein:NP_001229843, RefSeq Protein:NP_001229844, RefSeq Protein:NP_001229845, RefSeq Protein:NP_001229846, RefSeq Protein:NP_001229847, RefSeq Protein:NP_001229848, RefSeq Protein:NP_061879, RefSeq RNA:NM_001242911, RefSeq RNA:NM_001242912, RefSeq RNA:NM_001242913, RefSeq RNA:NM_001242914, RefSeq RNA:NM_001242915, RefSeq RNA:NM_001242916, RefSeq RNA:NM_001242917, RefSeq RNA:NM_001242918, RefSeq RNA:NM_001242919, RefSeq RNA:NM_019006, UniProtKB:Q6FIF0 No chr15 80351910 80430735 80059568 80138393 +PA165392434 441951 HGNC:33101 ENSG00000177410 ZNFX1 antisense RNA 1 ZFAS1 HSUP1, HSUP2 Yes No Ensembl:ENSG00000177410, GeneCard:NCRNA00275, HGNC:HGNC:33101, NCBI Gene:441951, RefSeq DNA:NT_011362, RefSeq Protein:XP_934843, RefSeq Protein:XP_939037, RefSeq Protein:XP_939038, RefSeq Protein:XP_946713, RefSeq Protein:XP_950402, RefSeq Protein:XP_950404, RefSeq RNA:NR_003604, RefSeq RNA:NR_003605, RefSeq RNA:NR_003606, RefSeq RNA:NR_036658, RefSeq RNA:NR_036659, RefSeq RNA:XM_929750, RefSeq RNA:XM_933944, RefSeq RNA:XM_933945, RefSeq RNA:XM_941620, RefSeq RNA:XM_945309, RefSeq RNA:XM_945311 No chr20 47894715 47905797 49278178 49289260 +PA162409638 57623 HGNC:19899 ENSG00000066827 zinc finger and AT-hook domain containing ZFAT zinc finger and AT hook domain containing KIAA1485, ZFAT1, ZNF406 Yes No Comparative Toxicogenomics Database:57623, Ensembl:ENSG00000066827, GeneCard:ZFAT, HGNC:HGNC:19899, HumanCyc Gene:HS00889, NCBI Gene:57623, OMIM:608175, OMIM:610931, RefSeq DNA:NG_016356, RefSeq DNA:NT_008046, RefSeq Protein:NP_001025110, RefSeq Protein:NP_001161055, RefSeq Protein:NP_001167628, RefSeq Protein:NP_001167629, RefSeq Protein:NP_065914, RefSeq RNA:NM_001029939, RefSeq RNA:NM_001167583, RefSeq RNA:NM_001174157, RefSeq RNA:NM_001174158, RefSeq RNA:NM_020863, UniProtKB:B7Z6H1, UniProtKB:Q4KMQ4, UniProtKB:Q6PJQ2, UniProtKB:Q9P243 No chr8 135490031 135725292 134477788 134713049 +PA162409675 594840 HGNC:33992 ENSG00000248492 ZFAT antisense RNA 1 ZFAT-AS1 non-protein coding RNA 70 NCRNA00070, SAS-ZFAT Yes No Ensembl:ENSG00000248492, GeneCard:ZFAT-AS1, HGNC:HGNC:33992, NCBI Gene:594840, RefSeq DNA:NT_008046, RefSeq RNA:NR_002438 No chr8 135610314 135612932 134598071 134600689 +PA164727644 196441 HGNC:28328 ENSG00000133858 zinc finger C3H1-type containing ZFC3H1 zinc finger, C3H1-type containing CCDC131, CSRC2, KIAA0546, MGC23401, PSRC2 Yes No Ensembl:ENSG00000133858, GeneCard:ZFC3H1, HGNC:HGNC:28328, HumanCyc Gene:HS16214, ModBase:O60293, NCBI Gene:196441, RefSeq DNA:NT_029419, RefSeq Protein:NP_659419, RefSeq RNA:NM_144982, UniProtKB:O60293 No chr12 72003379 72057749 71609599 71663969 +PA134951324 85446 HGNC:20152 ENSG00000136367 zinc finger homeobox 2 ZFHX2 KIAA1056, KIAA1762, ZFH-5, ZNF409 Yes No Ensembl:ENSG00000136367, GeneCard:ZFHX2, HGNC:HGNC:20152, HumanCyc Gene:HS06151, ModBase:Q9C0A1, NCBI Gene:85446, RefSeq DNA:NT_026437, RefSeq Protein:NP_207646, RefSeq Protein:XP_001715032, RefSeq Protein:XP_001720147, RefSeq Protein:XP_001722771, RefSeq RNA:NM_033400, RefSeq RNA:XM_001714980, RefSeq RNA:XM_001720095, RefSeq RNA:XM_001722719 No chr14 23990064 24025199 23520855 23555949 +PA162409676 463 HGNC:777 ENSG00000140836 zinc finger homeobox 3 ZFHX3 ATBF1, C16orf47, FLJ26184, ZNF927 Yes No Ensembl:ENSG00000140836, GeneCard:ZFHX3, HGNC:HGNC:777, HumanCyc Gene:HS06766, ModBase:Q15911, NCBI Gene:463, OMIM:104155, OMIM:176807, RefSeq DNA:NG_013211, RefSeq DNA:NT_010498, RefSeq Protein:NP_001158238, RefSeq Protein:NP_008816, RefSeq RNA:NM_001164766, RefSeq RNA:NM_006885, UniProtKB:Q15911, UniProtKB:Q8N2Y6 No chr16 72816784 73092534 72782885 73058635 +PA134986366 79776 HGNC:30939 ENSG00000091656 zinc finger homeobox 4 ZFHX4 FLJ20980, ZFH4 Yes No Comparative Toxicogenomics Database:79776, Ensembl:ENSG00000091656, GeneCard:ZFHX4, HGNC:HGNC:30939, HumanCyc Gene:HS16692, ModBase:Q86UP3, NCBI Gene:79776, OMIM:606940, RefSeq DNA:NT_008183, RefSeq Protein:NP_078997, RefSeq RNA:NM_024721, UniProtKB:Q86UP3 No chr8 77593515 77779521 76681219 76867285 +PA134882678 162239 HGNC:23328 ENSG00000184517 ZFP1 zinc finger protein ZFP1 FLJ34243, ZNF475 Yes No Ensembl:ENSG00000184517, GeneCard:ZFP1, HGNC:HGNC:23328, ModBase:Q6P2D0, NCBI Gene:162239, RefSeq DNA:NT_010498, RefSeq Protein:NP_710155, RefSeq RNA:NM_153688, UniProtKB:Q6P2D0 No chr16 75182392 75206132 75126285 75172234 +PA145147576 57677 HGNC:29312 ENSG00000142065 ZFP14 zinc finger protein ZFP14 KIAA1559, ZNF531 Yes No Ensembl:ENSG00000142065, GeneCard:ZFP14, HGNC:HGNC:29312, ModBase:Q9HCL3, NCBI Gene:57677, RefSeq DNA:NT_011109, RefSeq Protein:NP_065968, RefSeq RNA:NM_020917, UniProtKB:Q9HCL3 No chr19 36825355 36870126 36334453 36379203 +PA142670528 80108 HGNC:26138 ENSG00000198939 ZFP2 zinc finger protein ZFP2 FLJ21628, ZNF751 Yes No Ensembl:ENSG00000198939, GeneCard:ZFP2, HGNC:HGNC:26138, HumanCyc Gene:HS11265, ModBase:Q6ZN57, NCBI Gene:80108, RefSeq DNA:NT_023133, RefSeq Protein:NP_085116, RefSeq RNA:NM_030613, UniProtKB:Q6ZN57 No chr5 178322899 178360213 178895894 178933212 +PA38469 140612 HGNC:17801 ENSG00000196867 ZFP28 zinc finger protein ZFP28 KIAA1431, mkr5 Yes No Ensembl:ENSG00000196867, GenAtlas:ZFP28, GeneCard:ZFP28, HGNC:HGNC:17801, HumanCyc Gene:HS01120, ModBase:Q8NHY6, NCBI Gene:140612, RefSeq DNA:NT_011109, RefSeq Protein:NP_065879, RefSeq RNA:NM_020828, UCSC Genome Browser:NM_020828, UniProtKB:Q8NHY6 No chr19 57050317 57068170 56536791 56559213 +PA37450 124961 HGNC:12861 ENSG00000180787 ZFP3 zinc finger protein ZFP3 FLJ30726, ZNF752 Yes No Ensembl:ENSG00000180787, GenAtlas:ZFP3, GeneCard:ZFP3, HGNC:HGNC:12861, HumanCyc Gene:HS11530, ModBase:Q96NJ6, NCBI Gene:124961, OMIM:194480, RefSeq DNA:NT_010718, RefSeq Protein:NP_694563, RefSeq RNA:NM_153018, UniProtKB:Q96NJ6 No chr17 4981754 4999669 5078459 5096374 +PA143485675 22835 HGNC:29555 ENSG00000120784 ZFP30 zinc finger protein ZFP30 KIAA0961, ZNF745 Yes No Ensembl:ENSG00000120784, GeneCard:ZFP30, HGNC:HGNC:29555, HumanCyc Gene:HS04434, ModBase:Q9Y2G7, NCBI Gene:22835, RefSeq DNA:NT_011109, RefSeq Protein:NP_055713, RefSeq RNA:NM_014898, UniProtKB:Q9Y2G7 No chr19 38123386 38148129 37632488 37656261 +PA37451 7538 HGNC:12862 ENSG00000128016 ZFP36 ring finger protein ZFP36 G0S24, NUP475, RNF162A, TIS11, TTP, tristetraprolin Yes No Comparative Toxicogenomics Database:7538, Ensembl:ENSG00000128016, GenAtlas:ZFP36, GeneCard:ZFP36, HGNC:HGNC:12862, HumanCyc Gene:HS05152, ModBase:P26651, NCBI Gene:7538, OMIM:190700, RefSeq DNA:NT_011109, RefSeq Protein:NP_003398, RefSeq RNA:NM_003407, UCSC Genome Browser:NM_003407, UniProtKB:P26651 No chr19 39897487 39900052 39406847 39409412 +PA35027 677 HGNC:1107 ENSG00000185650 ZFP36 ring finger protein like 1 ZFP36L1 ZFP36 ring finger protein-like 1 BRF1, Berg36, ERF1, RNF162B, TIS11B, cMG1 Yes No Comparative Toxicogenomics Database:677, Ensembl:ENSG00000185650, GenAtlas:ZFP36L1, GeneCard:ZFP36L1, HGNC:HGNC:1107, ModBase:Q07352, NCBI Gene:677, OMIM:601064, RefSeq DNA:NT_026437, RefSeq Protein:NP_004917, RefSeq RNA:NM_004926, UCSC Genome Browser:NM_004926, UniProtKB:Q07352 No chr14 69254372 69263184 68787655 68796243 +PA35028 678 HGNC:1108 ENSG00000152518 ZFP36 ring finger protein like 2 ZFP36L2 ZFP36 ring finger protein-like 2 BRF2, ERF2, RNF162C, TIS11D Yes No Comparative Toxicogenomics Database:678, Ensembl:ENSG00000152518, GenAtlas:ZFP36L2, GeneCard:ZFP36L2, HGNC:HGNC:1108, HumanCyc Gene:HS07830, NCBI Gene:678, OMIM:612053, RefSeq DNA:NT_022184, RefSeq Protein:NP_008818, RefSeq RNA:NM_006887, UCSC Genome Browser:NM_006887, UniProtKB:P47974 No chr2 43449541 43453745 43222402 43226606 +PA37452 7539 HGNC:12863 ENSG00000136866 ZFP37 zinc finger protein ZFP37 ZNF906 Yes No Comparative Toxicogenomics Database:7539, Ensembl:ENSG00000136866, GenAtlas:ZFP37, GeneCard:ZFP37, HGNC:HGNC:12863, HumanCyc Gene:HS06229, ModBase:Q9Y6Q3, NCBI Gene:7539, OMIM:602951, RefSeq DNA:NT_008470, RefSeq Protein:NP_003399, RefSeq RNA:NM_003408, UCSC Genome Browser:NM_003408, UniProtKB:Q9Y6Q3 No chr9 115804144 115819043 113041815 113056791 +PA142670529 286128 HGNC:26786 ENSG00000181638 ZFP41 zinc finger protein ZFP41 FLJ00028, FLJ38705, ZNF753 Yes No Ensembl:ENSG00000181638, GeneCard:ZFP41, HGNC:HGNC:26786, ModBase:Q8N8Y5, NCBI Gene:286128, RefSeq DNA:NT_008046, RefSeq Protein:NP_776193, RefSeq RNA:NM_173832, UniProtKB:Q8N8Y5 No chr8 144328991 144344875 143246821 143262705 +PA142670530 132625 HGNC:30949 ENSG00000179059 ZFP42 zinc finger protein ZFP42 REX1, ZNF754 Yes No Comparative Toxicogenomics Database:132625, Ensembl:ENSG00000179059, GeneCard:ZFP42, HGNC:HGNC:30949, HumanCyc Gene:HS17190, ModBase:Q96MM3, NCBI Gene:132625, RefSeq DNA:NT_016354, RefSeq Protein:NP_777560, RefSeq RNA:NM_174900, UniProtKB:Q96MM3 No chr4 188916925 188926199 187994044 188005050 +PA134937821 346171 HGNC:18791 ENSG00000204644, ENSG00000223852 ZFP57 zinc finger protein ZFP57 C6orf40, ZNF698, bA145L22, bA145L22.2 Yes No Comparative Toxicogenomics Database:346171, Ensembl:ENSG00000204644, Ensembl:ENSG00000223852, GeneCard:ZFP57, HGNC:HGNC:18791, NCBI Gene:346171, OMIM:601410, OMIM:612192, RefSeq DNA:NG_013045, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001103279, RefSeq RNA:NM_001109809, UniProtKB:B7ZW61, UniProtKB:Q9NU63 No chr6 29640169 29644931 29672392 29681150 +PA134969387 643836 HGNC:23241 ENSG00000196670 ZFP62 zinc finger protein ZFP62 FLJ34231, ZET, ZNF755 Yes No Ensembl:ENSG00000196670, GeneCard:ZFP62, HGNC:HGNC:23241, ModBase:Q8NB50, NCBI Gene:643836, OMIM:610281, RefSeq DNA:NT_023133, RefSeq Protein:NP_001166109, RefSeq Protein:NP_689496, RefSeq RNA:NM_001172638, RefSeq RNA:NM_152283, UniProtKB:B4DIP6, UniProtKB:B4E0N3, UniProtKB:Q8NB50 No chr5 180272435 180288334 180843580 180861327 +PA38060 55734 HGNC:15940 ENSG00000020256 ZFP64 zinc finger protein ZFP64 FLJ10734, FLJ12628, ZNF338, dJ548G19.1, dJ831D17.1 Yes No Comparative Toxicogenomics Database:55734, Ensembl:ENSG00000020256, GenAtlas:ZFP64, GeneCard:ZFP64, HGNC:HGNC:15940, HumanCyc Gene:HS00402, ModBase:Q9NPA5, ModBase:Q9NTW7, NCBI Gene:55734, RefSeq DNA:NT_011362, RefSeq Protein:NP_060667, RefSeq Protein:NP_071371, RefSeq Protein:NP_955458, RefSeq Protein:NP_955459, RefSeq RNA:NM_018197, RefSeq RNA:NM_022088, RefSeq RNA:NM_199426, RefSeq RNA:NM_199427, UCSC Genome Browser:NM_018197, UCSC Genome Browser:NM_022088, UniProtKB:Q5JWM1, UniProtKB:Q9NPA5, UniProtKB:Q9NTW7 No chr20 50700550 50808524 52084011 52191985 +PA134879669 319123 HGNC:19820 ENSG00000258491 ZFP64 zinc finger protein pseudogene 1 ZFP64P1 Yes No Ensembl:ENSG00000258491, GeneCard:ZFP64P1, HGNC:HGNC:19820, NCBI Gene:319123, RefSeq DNA:NG_002504, RefSeq DNA:NT_026437 No chr14 51170712 51172229 50703994 50705511 +PA134917508 339559 HGNC:24708 ENSG00000187815 ZFP69 zinc finger protein ZFP69 ZFP69 zinc finger protein A FLJ16030, ZFP69A, ZKSCAN23A, ZNF642, ZSCAN54A Yes No Ensembl:ENSG00000187815, GeneCard:ZNF642, HGNC:HGNC:24708, ModBase:Q49AA0, NCBI Gene:339559, RefSeq DNA:NT_032977, RefSeq Protein:NP_940896, RefSeq RNA:NM_198494, UniProtKB:Q49AA0 No chr1 40943043 40962015 40477220 40496343 +PA134991949 65243 HGNC:28053 ENSG00000187801 ZFP69 zinc finger protein B ZFP69B FLJ34293, ZKSCAN23B, ZNF643, ZSCAN54B Yes No Ensembl:ENSG00000187801, GeneCard:ZNF643, HGNC:HGNC:28053, HumanCyc Gene:HS04083, ModBase:Q9UJL9, NCBI Gene:65243, RefSeq DNA:NT_032977, RefSeq Protein:NP_075558, RefSeq RNA:NM_023070 No chr1 40915774 40929390 40450068 40466765 +PA162409714 284406 HGNC:28682 ENSG00000181007 ZFP82 zinc finger protein ZFP82 KIAA1948, MGC45380, ZNF545 Yes No Ensembl:ENSG00000181007, GeneCard:ZFP82, HGNC:HGNC:28682, HumanCyc Gene:HS17611, ModBase:Q8N141, NCBI Gene:284406, RefSeq DNA:NT_011109, RefSeq Protein:NP_597723, RefSeq RNA:NM_133466, UniProtKB:Q8N141 No chr19 36882861 36909550 36383102 36418674 +PA134967487 146198 HGNC:23329 ENSG00000184939 ZFP90 zinc finger protein ZFP90 KIAA1954, NK10, ZNF756 Yes No Comparative Toxicogenomics Database:146198, Ensembl:ENSG00000184939, GeneCard:ZFP90, HGNC:HGNC:23329, ModBase:Q8TF47, NCBI Gene:146198, OMIM:609451, RefSeq DNA:NT_010498, RefSeq Protein:NP_597715, RefSeq RNA:NM_133458, UniProtKB:Q8TF47 No chr16 68573192 68609975 68533484 68576072 +PA37955 80829 HGNC:14983 ENSG00000186660 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase ZFP91 ZFP91 zinc finger protein PZF, ZNF757 Yes No Comparative Toxicogenomics Database:80829, Ensembl:ENSG00000186660, GenAtlas:ZFP91, GeneCard:ZFP91, HGNC:HGNC:14983, HumanCyc Gene:HS14267, ModBase:Q96JP5, NCBI Gene:80829, RefSeq DNA:NT_167190, RefSeq Protein:NP_001183980, RefSeq Protein:NP_444251, RefSeq RNA:NM_001197051, RefSeq RNA:NM_053023, UCSC Genome Browser:NM_053023, UniProtKB:Q96JP5 No chr11 58346587 58389023 58579114 58621550 +PA162409715 386607 HGNC:33441 ENSG00000255073 ZFP91-CNTF readthrough (non-protein coding) ZFP91-CNTF Yes Yes Ensembl:ENSG00000255073, HGNC:HGNC:33441, NCBI Gene:386607, RefSeq DNA:NG_008776.1, RefSeq DNA:NT_033903.7, RefSeq Protein:NP_739574.1, RefSeq RNA:NM_170768.2, RefSeq RNA:NR_024091, RefSeq RNA:NR_024091.1 No chr11 58346587 58393206 58579114 58625733 +PA37454 139735 HGNC:12865 ENSG00000189420 ZFP92 zinc finger protein ZFP92 ZNF897 Yes No Ensembl:ENSG00000189420, GenAtlas:ZFP92, GeneCard:ZFP92, HGNC:HGNC:12865, NCBI Gene:139735, RefSeq DNA:NT_167198, RefSeq Protein:NP_001129745, RefSeq RNA:NM_001136273, UniProtKB:A6NM28 No chrX 152676957 152691939 153411461 153426481 +PA37457 7542 HGNC:12868 ENSG00000162300 zinc finger protein like 1 ZFPL1 zinc finger protein-like 1, zinc-finger protein in MEN1 region D11S750, MCG4 Yes No Comparative Toxicogenomics Database:7542, Ensembl:ENSG00000162300, GenAtlas:ZFPL1, GeneCard:ZFPL1, HGNC:HGNC:12868, HumanCyc Gene:HS14906, ModBase:O95159, NCBI Gene:7542, RefSeq DNA:NT_167190, RefSeq Protein:NP_006773, RefSeq RNA:NM_006782, UCSC Genome Browser:NM_006782, UniProtKB:O95159 No chr11 64851694 64855874 65084222 65088402 +PA134920282 161882 HGNC:19762 ENSG00000179588 zinc finger protein, FOG family member 1 ZFPM1 FOG, FOG1, ZC2HC11A, ZNF89A Yes No Comparative Toxicogenomics Database:161882, Ensembl:ENSG00000179588, GeneCard:ZFPM1, HGNC:HGNC:19762, HumanCyc Gene:HS17314, ModBase:Q8IX07, NCBI Gene:161882, OMIM:601950, RefSeq DNA:NT_010542, RefSeq Protein:NP_722520, RefSeq RNA:NM_153813, UniProtKB:Q8IX07 No chr16 88520014 88601574 88451782 88535166 +PA134947303 23414 HGNC:16700 ENSG00000169946 zinc finger protein, FOG family member 2 ZFPM2 FOG2, ZC2HC11B, ZNF89B, hFOG-2 Yes No Comparative Toxicogenomics Database:23414, Ensembl:ENSG00000169946, GeneCard:ZFPM2, HGNC:HGNC:16700, HumanCyc Gene:HS10040, NCBI Gene:23414, OMIM:187500, OMIM:603693, OMIM:610187, RefSeq DNA:NG_011723, RefSeq DNA:NT_008046, RefSeq Protein:NP_036214, RefSeq RNA:NM_012082, UniProtKB:Q8WW38, UniProtKB:Q9NPQ0 No chr8 106330917 106816767 105318859 105804539 +PA38219 51663 HGNC:17277 ENSG00000056097 zinc finger RNA binding protein ZFR SPG71, ZFR1 Yes No Comparative Toxicogenomics Database:51663, Ensembl:ENSG00000056097, GenAtlas:ZFR, GeneCard:ZFR, HGNC:HGNC:17277, HumanCyc Gene:HS00691, ModBase:Q9Y687, NCBI Gene:51663, RefSeq DNA:NT_006576, RefSeq Protein:NP_057191, RefSeq RNA:NM_016107, UCSC Genome Browser:NM_016107, UniProtKB:Q05D65, UniProtKB:Q96KR1 No chr5 32354456 32444844 32354350 32444738 +PA162409746 23217 HGNC:29189 ENSG00000105278 zinc finger RNA binding protein 2 ZFR2 KIAA1086 Yes No Ensembl:ENSG00000105278, GeneCard:ZFR2, HGNC:HGNC:29189, NCBI Gene:23217, RefSeq DNA:NT_011255, RefSeq Protein:NP_001139112, RefSeq Protein:NP_055989, RefSeq RNA:NM_001145640, RefSeq RNA:NM_015174, RefSeq RNA:NR_027149, UniProtKB:C9JS88, UniProtKB:Q9UPR6 No chr19 3804022 3869027 3804024 3869029 +PA166352281 65998 HGNC:28449 zinc finger translocation associated ZFTA C11orf95 MGC3032 Yes No HGNC:HGNC:28449, NCBI Gene:65998 No 0 0 0 0 +PA27081 50626 HGNC:17806 ENSG00000187954 zinc finger TRAF-type containing 1 ZFTRAF1 cysteine and histidine rich 1, cysteine/histidine-rich 1 CHRP, CYHR1, KIAA0496, MGC13010 Yes No Comparative Toxicogenomics Database:50626, Ensembl:ENSG00000187954, GenAtlas:CYHR1, GeneCard:CYHR1, HGNC:HGNC:17806, ModBase:Q6ZMK1, NCBI Gene:50626, RefSeq DNA:NT_037704, RefSeq Protein:NP_001123360, RefSeq Protein:NP_116076, RefSeq Protein:NP_612505, RefSeq RNA:NM_001129888, RefSeq RNA:NM_032687, RefSeq RNA:NM_138496, UniProtKB:Q6ZMK1 No chr8 145675315 145691031 144449582 144465692 +PA37458 7543 HGNC:12869 ENSG00000005889 zinc finger protein X-linked ZFX zinc finger protein, X-linked ZNF926 Yes No Comparative Toxicogenomics Database:7543, Ensembl:ENSG00000005889, GenAtlas:ZFX, GeneCard:ZFX, HGNC:HGNC:12869, HumanCyc Gene:HS00153, ModBase:P17010, NCBI Gene:7543, OMIM:314980, RefSeq DNA:NG_021253, RefSeq DNA:NT_167197, RefSeq Protein:NP_001171555, RefSeq Protein:NP_001171556, RefSeq Protein:NP_001171557, RefSeq Protein:NP_001171566, RefSeq Protein:NP_003401, RefSeq RNA:NM_001178084, RefSeq RNA:NM_001178085, RefSeq RNA:NM_001178086, RefSeq RNA:NM_001178095, RefSeq RNA:NM_003410, UCSC Genome Browser:NM_003410, UniProtKB:P17010 No chrX 24167047 24234372 24148994 24216255 +PA37459 7544 HGNC:12870 ENSG00000067646 zinc finger protein Y-linked ZFY zinc finger protein, Y-linked ZNF911 Yes No Ensembl:ENSG00000067646, GenAtlas:ZFY, GeneCard:ZFY, HGNC:HGNC:12870, HumanCyc Gene:HS00914, ModBase:P08048, NCBI Gene:7544, OMIM:490000, RefSeq DNA:NG_008113, RefSeq DNA:NT_011896, RefSeq Protein:NP_001138747, RefSeq Protein:NP_001138748, RefSeq Protein:NP_003402, RefSeq RNA:NM_001145275, RefSeq RNA:NM_001145276, RefSeq RNA:NM_003411, UCSC Genome Browser:NM_003411, UniProtKB:B4DVF7, UniProtKB:P08048, UniProtKB:Q24JR0 No chrY 2803112 2850547 2934402 2982508 +PA37752 53349 HGNC:13180 ENSG00000165861 zinc finger FYVE-type containing 1 ZFYVE1 """protein phosphatase 1, regulatory subunit 172"", ""zinc finger, FYVE domain containing 1""" DFCP1, KIAA1589, PPP1R172, TAFF1, ZNFN2A1 Yes No Comparative Toxicogenomics Database:53349, Ensembl:ENSG00000165861, GeneCard:ZFYVE1, HGNC:HGNC:13180, ModBase:Q9HBF4, NCBI Gene:53349, OMIM:605471, RefSeq DNA:NT_026437, RefSeq Protein:NP_067083, RefSeq Protein:NP_848535, RefSeq RNA:NM_021260, RefSeq RNA:NM_178441, UCSC Genome Browser:NM_021260, UniProtKB:Q9HBF4 No chr14 73436152 73493920 72969445 73027212 +PA134873366 9765 HGNC:20756 ENSG00000039319 zinc finger FYVE-type containing 16 ZFYVE16 """endofin"", ""protein phosphatase 1, regulatory subunit 69"", ""zinc finger, FYVE domain containing 16""" KIAA0305, PPP1R69 Yes No Comparative Toxicogenomics Database:9765, Ensembl:ENSG00000039319, GeneCard:ZFYVE16, HGNC:HGNC:20756, HumanCyc Gene:HS00541, ModBase:Q7Z3T8, NCBI Gene:9765, OMIM:608880, RefSeq DNA:NT_006713, RefSeq Protein:NP_001098721, RefSeq Protein:NP_055548, RefSeq RNA:NM_001105251, RefSeq RNA:NM_014733, UniProtKB:Q7Z3T8 No chr5 79703386 79775498 80407615 80479869 +PA134906967 84936 HGNC:20758 ENSG00000166140 zinc finger FYVE-type containing 19 ZFYVE19 """MLL partner containing FYVE domain"", ""abscission/nocut checkpoint regulator"", ""zinc finger, FYVE domain containing 19""" ANCHR, FLJ14840, MPFYVE Yes No Comparative Toxicogenomics Database:84936, Ensembl:ENSG00000166140, GeneCard:ZFYVE19, HGNC:HGNC:20758, HumanCyc Gene:HS09336, ModBase:Q96K21, NCBI Gene:84936, RefSeq DNA:NT_010194, RefSeq Protein:NP_001070736, RefSeq RNA:NM_001077268, UniProtKB:Q96K21 No chr15 41099274 41106767 40807076 40814569 +PA134879875 79038 HGNC:20760 ENSG00000100711 zinc finger FYVE-type containing 21 ZFYVE21 zinc finger, FYVE domain containing 21 MGC2550, ZF21 Yes No Comparative Toxicogenomics Database:79038, Ensembl:ENSG00000100711, GeneCard:ZFYVE21, HGNC:HGNC:20760, HumanCyc Gene:HS02137, ModBase:Q9BQ24, NCBI Gene:79038, RefSeq DNA:NT_026437, RefSeq Protein:NP_001185882, RefSeq Protein:NP_076976, RefSeq RNA:NM_001198953, RefSeq RNA:NM_024071, UniProtKB:Q9BQ24 No chr14 104182081 104200005 103715744 103733668 +PA134904455 23503 HGNC:20761 ENSG00000072121 zinc finger FYVE-type containing 26 ZFYVE26 """FYVE-CENT"", ""spastizin"", ""zinc finger, FYVE domain containing 26""" KIAA0321, SPG15 Yes No Comparative Toxicogenomics Database:23503, Ensembl:ENSG00000072121, GeneCard:ZFYVE26, HGNC:HGNC:20761, NCBI Gene:23503, OMIM:270700, OMIM:612012, RefSeq DNA:NG_011836, RefSeq DNA:NT_026437, RefSeq Protein:NP_056161, RefSeq RNA:NM_015346, UniProtKB:Q68DK2 No chr14 68213237 68283306 67728892 67817293 +PA134863310 118813 HGNC:26559 ENSG00000155256 zinc finger FYVE-type containing 27 ZFYVE27 """protrudin"", ""zinc finger, FYVE domain containing 27""" FLJ32919, SPG33 Yes No Comparative Toxicogenomics Database:118813, Ensembl:ENSG00000155256, GeneCard:ZFYVE27, HGNC:HGNC:26559, HumanCyc Gene:HS08037, ModBase:Q96M08, NCBI Gene:118813, OMIM:610243, OMIM:610244, RefSeq DNA:NG_017075, RefSeq DNA:NT_030059, RefSeq Protein:NP_001002261, RefSeq Protein:NP_001002262, RefSeq Protein:NP_001167590, RefSeq Protein:NP_001167591, RefSeq Protein:NP_001167592, RefSeq Protein:NP_001167593, RefSeq Protein:NP_653189, RefSeq RNA:NM_001002261, RefSeq RNA:NM_001002262, RefSeq RNA:NM_001174119, RefSeq RNA:NM_001174120, RefSeq RNA:NM_001174121, RefSeq RNA:NM_001174122, RefSeq RNA:NM_144588, UniProtKB:B7Z3S0, UniProtKB:Q5T4F4 No chr10 99496878 99520664 97737121 97760907 +PA134904138 57732 HGNC:29334 ENSG00000159733 zinc finger FYVE-type containing 28 ZFYVE28 """lateral signaling target-2 homolog"", ""zinc finger, FYVE domain containing 28""" KIAA1643, lst-2 Yes No Ensembl:ENSG00000159733, GeneCard:ZFYVE28, HGNC:HGNC:29334, ModBase:Q9HCC9, NCBI Gene:57732, RefSeq DNA:NT_006051, RefSeq Protein:NP_001166127, RefSeq Protein:NP_001166128, RefSeq Protein:NP_001166129, RefSeq Protein:NP_001166130, RefSeq Protein:NP_001166131, RefSeq Protein:NP_066023, RefSeq RNA:NM_001172656, RefSeq RNA:NM_001172657, RefSeq RNA:NM_001172658, RefSeq RNA:NM_001172659, RefSeq RNA:NM_001172660, RefSeq RNA:NM_020972, UniProtKB:Q7Z6J3, UniProtKB:Q9HCC9 No chr4 2271324 2420370 2269585 2418698 +PA30532 9372 HGNC:6775 ENSG00000157077 zinc finger FYVE-type containing 9 ZFYVE9 """protein phosphatase 1, regulatory subunit 173"", ""zinc finger, FYVE domain containing 9""" MADHIP, PPP1R173, SARA, SMADIP Yes No Ensembl:ENSG00000157077, GenAtlas:ZFYVE9, GeneCard:ZFYVE9, HGNC:HGNC:6775, HumanCyc Gene:HS08175, ModBase:O95405, NCBI Gene:9372, OMIM:603755, RefSeq DNA:NT_032977, RefSeq Protein:NP_004790, RefSeq Protein:NP_015562, RefSeq Protein:NP_015563, RefSeq RNA:NM_004799, RefSeq RNA:NM_007323, RefSeq RNA:NM_007324, UCSC Genome Browser:NM_004799, UniProtKB:O95405 No chr1 52607678 52812358 52142001 52348664 +PA164727719 653808 HGNC:30961 ENSG00000174992 zymogen granule protein 16 ZG16 JCLN, JCLN1, ZG16A, hZG16 Yes No Ensembl:ENSG00000174992, GeneCard:ZG16, HGNC:HGNC:30961, NCBI Gene:653808, RefSeq DNA:NT_010393, RefSeq Protein:NP_689551, RefSeq RNA:NM_152338, UniProtKB:O60844 No chr16 29789561 29792969 29760804 29781648 +PA164727732 124220 HGNC:30456 ENSG00000162078 zymogen granule protein 16B ZG16B jacalin-like lectin domain containing 2 HRPE773, JCLN2, PRO1567 Yes No Ensembl:ENSG00000162078, GeneCard:ZG16B, HGNC:HGNC:30456, HumanCyc Gene:HS14897, NCBI Gene:124220, RefSeq DNA:NT_010393, RefSeq Protein:NP_660295, RefSeq RNA:NM_145252, UniProtKB:Q96DA0 No chr16 2880173 2882285 2830172 2832284 +PA165394820 100125288 HGNC:37245 ENSG00000220201 zinc finger GATA like protein 1 ZGLP1 """GATA like protein 1"", ""GATA zinc finger domain containing 3"", ""zinc finger, GATA-like protein 1""" GATAD3, GLP-1, GLP1 Yes No Ensembl:ENSG00000220201, GeneCard:ZGLP1, HGNC:HGNC:37245, NCBI Gene:100125288, OMIM:611639, RefSeq DNA:NT_011295, RefSeq Protein:NP_001096637, RefSeq RNA:NM_001103167, UniProtKB:P0C6A0 No chr19 10415479 10420233 10304803 10309557 +PA134881248 84619 HGNC:15948 ENSG00000197114 zinc finger CCCH-type and G-patch domain containing ZGPAT zinc finger, CCCH-type with G patch domain FLJ14972, GPATC6, GPATCH6, KIAA1847, MGC44880, ZC3H9, ZC3HDC9, ZIP, dJ583P15.3 Yes No Comparative Toxicogenomics Database:84619, Ensembl:ENSG00000197114, GeneCard:ZGPAT, HGNC:HGNC:15948, ModBase:Q8N5A5, NCBI Gene:84619, RefSeq DNA:NT_011333, RefSeq Protein:NP_001076582, RefSeq Protein:NP_001182582, RefSeq Protein:NP_001182583, RefSeq Protein:NP_115916, RefSeq Protein:NP_852150, RefSeq RNA:NM_001083113, RefSeq RNA:NM_001195653, RefSeq RNA:NM_001195654, RefSeq RNA:NM_032527, RefSeq RNA:NM_181485, UniProtKB:Q8N5A5 No chr20 62338727 62367494 63707442 63736142 +PA144596502 55345 HGNC:25654 ENSG00000138658 zinc finger GRF-type containing 1 ZGRF1 """chromosome 4 open reading frame 21"", ""zinc finger, GRF-type containing 1""" C4orf21, FLJ11331 Yes No Ensembl:ENSG00000138658, GeneCard:C4orf21, HGNC:HGNC:25654, ModBase:Q86YA3, NCBI Gene:55345, RefSeq DNA:NT_016354, RefSeq Protein:NP_001093246, RefSeq Protein:NP_060862, RefSeq RNA:NM_001099776, RefSeq RNA:NM_018392, UniProtKB:B4DSN6, UniProtKB:Q6ZU11, UniProtKB:Q86YA3 No chr4 113460489 113558151 112539333 112636995 +PA37460 11244 HGNC:12871 ENSG00000165156 zinc fingers and homeoboxes 1 ZHX1 Yes No Comparative Toxicogenomics Database:11244, Ensembl:ENSG00000165156, GenAtlas:ZHX1, GeneCard:ZHX1, HGNC:HGNC:12871, HumanCyc Gene:HS09190, ModBase:Q9UKY1, NCBI Gene:11244, OMIM:604764, RefSeq DNA:NT_008046, RefSeq Protein:NP_001017926, RefSeq Protein:NP_009153, RefSeq RNA:NM_001017926, RefSeq RNA:NM_007222, RefSeq RNA:NR_037873, RefSeq RNA:NR_037874, UCSC Genome Browser:NM_007222, UniProtKB:Q9UKY1 No chr8 124260690 124287781 123248450 123275541 +PA128394591 22882 HGNC:18513 ENSG00000178764 zinc fingers and homeoboxes 2 ZHX2 KIAA0854 Yes Yes Ensembl:ENSG00000178764, GeneCard:ZHX2, HGNC:HGNC:18513, HumanCyc Gene:HS11314, ModBase:Q9Y6X8, NCBI Gene:22882, OMIM:609185, RefSeq DNA:NT_008046, RefSeq Protein:NP_055758, RefSeq RNA:NM_014943, UCSC Genome Browser:NM_014943, UniProtKB:Q9Y6X8 No chr8 123792510 123986755 122781349 122974515 +PA38056 23051 HGNC:15935 ENSG00000174306 zinc fingers and homeoboxes 3 ZHX3 KIAA0395, TIX1 Yes No Ensembl:ENSG00000174306, GenAtlas:ZHX3, GeneCard:ZHX3, HGNC:HGNC:15935, HumanCyc Gene:HS10785, ModBase:Q9H4I2, NCBI Gene:23051, OMIM:609598, RefSeq DNA:NT_011362, RefSeq Protein:NP_055850, RefSeq RNA:NM_015035, UCSC Genome Browser:NM_015035, UniProtKB:Q9H4I2 No chr20 39807089 39928766 41178449 41317606 +PA37461 7545 HGNC:12872 ENSG00000152977 Zic family member 1 ZIC1 ZIC, ZNF201 Yes No Comparative Toxicogenomics Database:7545, Ensembl:ENSG00000152977, GenAtlas:ZIC1, GeneCard:ZIC1, HGNC:HGNC:12872, HumanCyc Gene:HS07868, ModBase:Q15915, NCBI Gene:7545, OMIM:600470, RefSeq DNA:NG_015886, RefSeq DNA:NT_005612, RefSeq Protein:NP_003403, RefSeq RNA:NM_003412, UCSC Genome Browser:NM_003412, UniProtKB:Q15915 No chr3 147127181 147134506 147409394 147416719 +PA37462 7546 HGNC:12873 ENSG00000043355 Zic family member 2 ZIC2 Zinc finger protein of the cerebellum 2 HPE5 Yes No Comparative Toxicogenomics Database:7546, Ensembl:ENSG00000043355, GenAtlas:ZIC2, GeneCard:ZIC2, HGNC:HGNC:12873, HumanCyc Gene:HS00569, ModBase:O95409, NCBI Gene:7546, OMIM:603073, OMIM:609637, RefSeq DNA:NG_007085, RefSeq DNA:NT_009952, RefSeq Protein:NP_009060, RefSeq RNA:NM_007129, UCSC Genome Browser:NM_007129, UniProtKB:O95409 No chr13 100634026 100639019 99981772 99986765 +PA37463 7547 HGNC:12874 ENSG00000156925 Zic family member 3 ZIC3 HTX, HTX1, ZNF203 Yes No Comparative Toxicogenomics Database:7547, Ensembl:ENSG00000156925, GenAtlas:ZIC3, GeneCard:ZIC3, HGNC:HGNC:12874, HumanCyc Gene:HS08159, ModBase:O60481, NCBI Gene:7547, OMIM:300265, OMIM:306955, RefSeq DNA:NG_008115, RefSeq DNA:NT_011786, RefSeq Protein:NP_003404, RefSeq RNA:NM_003413, UCSC Genome Browser:NM_003413, UniProtKB:O60481 No chrX 136648346 136654259 137566187 137577691 +PA134937175 84107 HGNC:20393 ENSG00000174963 Zic family member 4 ZIC4 Yes No Ensembl:ENSG00000174963, GeneCard:ZIC4, HGNC:HGNC:20393, HumanCyc Gene:HS16417, ModBase:Q8N9L1, NCBI Gene:84107, OMIM:608948, RefSeq DNA:NG_009242, RefSeq DNA:NT_005612, RefSeq Protein:NP_001161850, RefSeq Protein:NP_001161851, RefSeq Protein:NP_115529, RefSeq RNA:NM_001168378, RefSeq RNA:NM_001168379, RefSeq RNA:NM_032153, RefSeq RNA:NR_033118, RefSeq RNA:NR_033119, UniProtKB:B4DF89, UniProtKB:B7Z2L2, UniProtKB:Q8N9L1 No chr3 147103835 147124596 147386048 147406893 +PA134941698 85416 HGNC:20322 ENSG00000139800 Zic family member 5 ZIC5 Yes No Comparative Toxicogenomics Database:85416, Ensembl:ENSG00000139800, GeneCard:ZIC5, HGNC:HGNC:20322, HumanCyc Gene:HS13800, ModBase:Q96T25, NCBI Gene:85416, RefSeq DNA:NT_009952, RefSeq Protein:NP_149123, RefSeq RNA:NM_033132, UniProtKB:Q96T25 No chr13 100615275 100624178 99963021 99971924 +PA162409747 284307 HGNC:33104 ENSG00000171649 zinc finger protein interacting with K protein 1 ZIK1 ZNF762 Yes No Ensembl:ENSG00000171649, GeneCard:ZIK1, HGNC:HGNC:33104, ModBase:Q3SY52, NCBI Gene:284307, RefSeq DNA:NT_011109, RefSeq Protein:NP_001010879, RefSeq RNA:NM_001010879, UniProtKB:Q3SY52 No chr19 58095508 58105256 57583642 57593890 +PA37464 23619 HGNC:12875 ENSG00000269699 zinc finger imprinted 2 ZIM2 zinc finger, imprinted 2 ZNF656 Yes No Ensembl:ENSG00000269699, GenAtlas:ZIM2, GeneCard:ZIM2, HGNC:HGNC:12875, HumanCyc Gene:HS05133, ModBase:Q9NZV7, NCBI Gene:23619, RefSeq DNA:NG_012989, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139798, RefSeq Protein:NP_001139799, RefSeq Protein:NP_056178, RefSeq RNA:NM_001146326, RefSeq RNA:NM_001146327, RefSeq RNA:NM_015363, UCSC Genome Browser:NM_015363, UniProtKB:Q9NZV7 No chr19 57285915 57352097 56774547 56840729 +PA38127 114026 HGNC:16366 ENSG00000141946 zinc finger imprinted 3 ZIM3 zinc finger, imprinted 3 ZNF657 Yes No Ensembl:ENSG00000141946, GenAtlas:ZIM3, GeneCard:ZIM3, HGNC:HGNC:16366, HumanCyc Gene:HS06880, ModBase:Q96PE6, NCBI Gene:114026, RefSeq DNA:NT_011109, RefSeq Protein:NP_443114, RefSeq RNA:NM_052882, UCSC Genome Browser:NM_052882, UniProtKB:Q96PE6 No chr19 57645464 57656570 57134096 57145202 +PA37676 7586 HGNC:13101 ENSG00000106261 zinc finger with KRAB and SCAN domains 1 ZKSCAN1 KOX18, PHZ-37, ZNF139, ZNF36, ZSCAN33 Yes No Comparative Toxicogenomics Database:7586, Ensembl:ENSG00000106261, GenAtlas:ZKSCAN1, GeneCard:ZKSCAN1, HGNC:HGNC:13101, HumanCyc Gene:HS02876, ModBase:P17029, NCBI Gene:7586, OMIM:601260, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_003430, RefSeq RNA:NM_003439, UniProtKB:P17029 No chr7 99613204 99642803 100015572 100045523 +PA162409748 342357 HGNC:25677 ENSG00000155592 zinc finger with KRAB and SCAN domains 2 ZKSCAN2 FLJ23199, ZNF694, ZSCAN34 Yes No Ensembl:ENSG00000155592, GeneCard:ZKSCAN2, HGNC:HGNC:25677, ModBase:Q63HK3, NCBI Gene:342357, RefSeq DNA:NT_010393, RefSeq Protein:NP_001012999, RefSeq RNA:NM_001012981, UniProtKB:A1L3B4, UniProtKB:Q63HK3 No chr16 25247322 25269210 25236001 25257943 +PA37821 80317 HGNC:13853 ENSG00000189298 zinc finger with KRAB and SCAN domains 3 ZKSCAN3 ZF47, ZNF306, ZNF309, ZSCAN35, Zfp47 Yes No Comparative Toxicogenomics Database:80317, Ensembl:ENSG00000189298, GenAtlas:ZNF306, GeneCard:ZKSCAN3, GeneCard:ZNF306, HGNC:HGNC:13853, HumanCyc Gene:HS06284, NCBI Gene:80317, OMIM:612791, RefSeq DNA:NT_007592, RefSeq Protein:NP_001229823, RefSeq Protein:NP_001229824, RefSeq Protein:NP_077819, RefSeq RNA:NM_001242894, RefSeq RNA:NM_001242895, RefSeq RNA:NM_024493, UCSC Genome Browser:NM_024493, UniProtKB:Q9BRR0 No chr6 28317691 28336954 28349913 28369177 +PA162409784 387032 HGNC:13854 ENSG00000187626 zinc finger with KRAB and SCAN domains 4 ZKSCAN4 FLJ32136, P1P373C6, ZNF307, ZNF427, ZSCAN36, p373c6.1 Yes No Ensembl:ENSG00000187626, GeneCard:ZKSCAN4, HGNC:HGNC:13854, NCBI Gene:387032, OMIM:611643, RefSeq DNA:NT_007592, RefSeq Protein:NP_061983, RefSeq RNA:NM_019110, UniProtKB:Q969J2 No chr6 28212404 28227030 28241697 28259312 +PA162409785 23660 HGNC:12867 ENSG00000196652 zinc finger with KRAB and SCAN domains 5 ZKSCAN5 ZFP95, ZNF914, ZSCAN37 Yes No Ensembl:ENSG00000196652, GeneCard:ZKSCAN5, HGNC:HGNC:12867, ModBase:Q9Y2L8, NCBI Gene:23660, OMIM:611272, RefSeq DNA:NG_000004, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_055384, RefSeq Protein:NP_659570, RefSeq RNA:NM_014569, RefSeq RNA:NM_145102, UniProtKB:B3KNK8, UniProtKB:Q9Y2L8 No chr7 99102273 99131445 99501296 99534106 +PA37537 55888 HGNC:12955 ENSG00000196345 zinc finger with KRAB and SCAN domains 7 ZKSCAN7 FLJ12738, ZNF167, ZNF448, ZNF64, ZSCAN39 Yes No Comparative Toxicogenomics Database:55888, Ensembl:ENSG00000196345, GenAtlas:ZNF167, GeneCard:ZNF167, HGNC:HGNC:12955, HumanCyc Gene:HS07204, ModBase:Q9P0L1, NCBI Gene:55888, RefSeq DNA:NT_022517, RefSeq Protein:NP_061121, RefSeq Protein:NP_079445, RefSeq RNA:NM_018651, RefSeq RNA:NM_025169, UniProtKB:Q9P0L1 No chr3 44596667 44624975 44555175 44583464 +PA37563 7745 HGNC:12983 ENSG00000198315 zinc finger with KRAB and SCAN domains 8 ZKSCAN8 LD5-1, ZNF192, ZSCAN40 Yes No Ensembl:ENSG00000198315, GenAtlas:ZNF192, GeneCard:ZNF192, HGNC:HGNC:12983, ModBase:Q15776, NCBI Gene:7745, OMIM:602240, RefSeq DNA:NT_007592, RefSeq Protein:NP_006289, RefSeq RNA:NM_006298, UCSC Genome Browser:NM_006298, UniProtKB:Q15776 No chr6 28109688 28127250 28141644 28159472 +PA134880461 84460 HGNC:29377 ENSG00000166432 zinc finger matrin-type 1 ZMAT1 zinc finger, matrin-type 1 KIAA1789 Yes No Comparative Toxicogenomics Database:84460, Ensembl:ENSG00000166432, GeneCard:ZMAT1, HGNC:HGNC:29377, ModBase:Q5H9K5, NCBI Gene:84460, RefSeq DNA:NG_016330, RefSeq DNA:NT_011651, RefSeq Protein:NP_001011657, RefSeq Protein:NP_115817, RefSeq RNA:NM_001011657, RefSeq RNA:NM_032441, RefSeq RNA:NR_036431, UniProtKB:Q5H9K5 No chrX 101137260 101187108 101882288 101932135 +PA134931664 153527 HGNC:26433 ENSG00000146007 zinc finger matrin-type 2 ZMAT2 zinc finger, matrin-type 2 FLJ31121, Snu23, hSNU23 Yes No Comparative Toxicogenomics Database:153527, Ensembl:ENSG00000146007, GeneCard:ZMAT2, HGNC:HGNC:26433, HumanCyc Gene:HS07311, NCBI Gene:153527, RefSeq DNA:NT_029289, RefSeq Protein:NP_653324, RefSeq RNA:NM_144723, UniProtKB:Q96NC0 No chr5 140078265 140086248 140700360 140706681 +PA145147560 64393 HGNC:29983 ENSG00000172667 zinc finger matrin-type 3 ZMAT3 zinc finger, matrin-type 3 FLJ12296, MGC10613, PAG608, WIG-1, WIG1 Yes No Comparative Toxicogenomics Database:64393, Ensembl:ENSG00000172667, GeneCard:ZMAT3, HGNC:HGNC:29983, HumanCyc Gene:HS10551, ModBase:Q9HA38, NCBI Gene:64393, OMIM:606452, RefSeq DNA:NT_005612, RefSeq Protein:NP_071915, RefSeq Protein:NP_689426, RefSeq RNA:NM_022470, RefSeq RNA:NM_152240, UniProtKB:B3KVA6, UniProtKB:Q9HA38 No chr3 178735011 178790067 179017223 179072279 +PA142670525 79698 HGNC:25844 ENSG00000165061 zinc finger matrin-type 4 ZMAT4 zinc finger, matrin-type 4 FLJ13842 Yes Yes Comparative Toxicogenomics Database:79698, Ensembl:ENSG00000165061, GeneCard:ZMAT4, HGNC:HGNC:25844, HumanCyc Gene:HS09178, ModBase:Q9H898, NCBI Gene:79698, RefSeq DNA:NT_167187, RefSeq Protein:NP_001129203, RefSeq Protein:NP_078921, RefSeq RNA:NM_001135731, RefSeq RNA:NM_024645, UniProtKB:Q9H898 No chr8 40388109 40755345 40530590 40897828 +PA142670524 55954 HGNC:28046 ENSG00000100319 zinc finger matrin-type 5 ZMAT5 """U11/U12 snRNP 20K"", ""zinc finger CCCH-type containing 19"", ""zinc finger, matrin-type 5""" SNRNP20, ZC3H19 Yes No Ensembl:ENSG00000100319, GeneCard:ZMAT5, HGNC:HGNC:28046, HumanCyc Gene:HS02041, ModBase:Q9UDW3, NCBI Gene:55954, RefSeq DNA:NT_011520, RefSeq Protein:NP_001003692, RefSeq Protein:NP_061976, RefSeq RNA:NM_001003692, RefSeq RNA:NM_019103, UniProtKB:Q9UDW3 No chr22 30126945 30163000 29730956 29767011 +PA162409804 57178 HGNC:16493 ENSG00000108175 zinc finger MIZ-type containing 1 ZMIZ1 zinc finger, MIZ-type containing 1 FLJ13541, KIAA1224, MIZ, RAI17, RP11-519K18.1, Zimp10, hZIMP10 Yes Yes Ensembl:ENSG00000108175, GeneCard:ZMIZ1, HGNC:HGNC:16493, HumanCyc Gene:HS03067, ModBase:Q9ULJ6, NCBI Gene:57178, OMIM:607159, RefSeq DNA:NT_030059, RefSeq Protein:NP_065071, RefSeq RNA:NM_020338, UniProtKB:A0JLS3, UniProtKB:Q9ULJ6 No chr10 80828751 81076285 79068994 79316528 +PA162409851 83637 HGNC:22229 ENSG00000122515 zinc finger MIZ-type containing 2 ZMIZ2 zinc finger, MIZ-type containing 2 DKFZp761I2123, KIAA1886, NET27, ZIMP7, hZIMP7 Yes No Ensembl:ENSG00000122515, GeneCard:ZMIZ2, HGNC:HGNC:22229, HumanCyc Gene:HS04572, ModBase:Q8NF64, NCBI Gene:83637, OMIM:611196, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_113637, RefSeq Protein:NP_777589, RefSeq RNA:NM_031449, RefSeq RNA:NM_174929, UniProtKB:Q8NF64 No chr7 44788168 44809480 44748547 44769881 +PA37466 10269 HGNC:12877 ENSG00000084073 zinc metallopeptidase STE24 ZMPSTE24 CAAX prenyl protease 1 homolog, Hutchinson-Gilford progeria syndrome FACE-1, HGPS, PRO1, STE24, Ste24p Yes No Comparative Toxicogenomics Database:10269, Ensembl:ENSG00000084073, GenAtlas:ZMPSTE24, GeneCard:ZMPSTE24, HGNC:HGNC:12877, HumanCyc Gene:HS01464, NCBI Gene:10269, OMIM:275210, OMIM:606480, OMIM:608612, RefSeq DNA:NG_008695, RefSeq DNA:NT_032977, RefSeq Protein:NP_005848, RefSeq RNA:NM_005857, UCSC Genome Browser:NM_005857, UniProtKB:O75844 No chr1 40723722 40759856 40258050 40294184 +PA134948969 79830 HGNC:26253 ENSG00000197056 zinc finger MYM-type containing 1 ZMYM1 zinc finger, MYM-type 1 FLJ23151, MYM Yes No Comparative Toxicogenomics Database:79830, Ensembl:ENSG00000197056, GeneCard:ZMYM1, HGNC:HGNC:26253, ModBase:Q5SVZ6, NCBI Gene:79830, RefSeq DNA:NT_032977, RefSeq Protein:NP_079048, RefSeq RNA:NM_024772, UniProtKB:Q5SVZ6 No chr1 35525387 35581460 35059786 35116458 +PA37569 7750 HGNC:12989 ENSG00000121741 zinc finger MYM-type containing 2 ZMYM2 zinc finger, MYM-type 2 FIM, MYM, RAMP, ZNF198 Yes No Comparative Toxicogenomics Database:7750, Ensembl:ENSG00000121741, GenAtlas:ZMYM2, GeneCard:ZMYM2, HGNC:HGNC:12989, HumanCyc Gene:HS04515, ModBase:Q8NE39, NCBI Gene:7750, OMIM:602221, RefSeq DNA:NG_023348, RefSeq DNA:NT_024524, RefSeq Protein:NP_001177893, RefSeq Protein:NP_001177894, RefSeq Protein:NP_003444, RefSeq Protein:NP_932072, RefSeq RNA:NM_001190964, RefSeq RNA:NM_001190965, RefSeq RNA:NM_003453, RefSeq RNA:NM_197968, UCSC Genome Browser:NM_003453, UniProtKB:Q9UBW7 No chr13 20531708 20665968 19957412 20091845 +PA37632 9203 HGNC:13054 ENSG00000147130 zinc finger MYM-type containing 3 ZMYM3 """zinc finger, MYM-type 3"", ""zinc finger, myeloproliferative, and mental retardation-type 3""" DXS6673E, KIAA0385, MYM, ZNF198L2, ZNF261 Yes No Comparative Toxicogenomics Database:9203, Ensembl:ENSG00000147130, GenAtlas:ZMYM3, GeneCard:ZMYM3, HGNC:HGNC:13054, HumanCyc Gene:HS07397, ModBase:Q14202, NCBI Gene:9203, OMIM:300061, RefSeq DNA:NG_016407, RefSeq DNA:NT_011669, RefSeq Protein:NP_001164633, RefSeq Protein:NP_001164634, RefSeq Protein:NP_005087, RefSeq Protein:NP_963893, RefSeq RNA:NM_001171162, RefSeq RNA:NM_001171163, RefSeq RNA:NM_005096, RefSeq RNA:NM_201599, UCSC Genome Browser:NM_005096, UniProtKB:A8K3Z7, UniProtKB:Q14202, UniProtKB:Q96E26 No chrX 70459474 70475047 71239624 71255261 +PA37633 9202 HGNC:13055 ENSG00000146463 zinc finger MYM-type containing 4 ZMYM4 zinc finger, MYM-type 4 KIAA0425, MYM, ZNF198L3, ZNF262 Yes No Comparative Toxicogenomics Database:9202, Ensembl:ENSG00000146463, GenAtlas:ZMYM4, GeneCard:ZMYM4, HGNC:HGNC:13055, HumanCyc Gene:HS07351, ModBase:Q5VZL5, NCBI Gene:9202, RefSeq DNA:NT_032977, RefSeq Protein:NP_005086, RefSeq RNA:NM_005095, UCSC Genome Browser:NM_005095, UniProtKB:Q5VZL5 No chr1 35734444 35887545 35268694 35421944 +PA37607 9205 HGNC:13029 ENSG00000132950 zinc finger MYM-type containing 5 ZMYM5 """Zinc finger protein 198-like 1"", ""zinc finger, MYM-type 5""" MYM, ZNF198L1, ZNF237 Yes No Comparative Toxicogenomics Database:9205, Ensembl:ENSG00000132950, GenAtlas:ZMYM5, GeneCard:ZMYM5, HGNC:HGNC:13029, HumanCyc Gene:HS13455, NCBI Gene:9205, RefSeq DNA:NT_024524, RefSeq Protein:NP_001034738, RefSeq Protein:NP_001034739, RefSeq Protein:NP_001136156, RefSeq RNA:NM_001039649, RefSeq RNA:NM_001039650, RefSeq RNA:NM_001142684, UCSC Genome Browser:NM_014242, UniProtKB:Q9UJ78 No chr13 20397621 20437776 19823482 19863636 +PA37628 9204 HGNC:13050 ENSG00000163867 zinc finger MYM-type containing 6 ZMYM6 """zinc finger, BED-type containing 7"", ""zinc finger, MYM-type 6""" Buster2, KIAA1353, MYM, ZBED7, ZNF198L4, ZNF258 Yes No Ensembl:ENSG00000163867, GenAtlas:ZMYM6, GeneCard:ZMYM6, HGNC:HGNC:13050, HumanCyc Gene:HS08954, ModBase:Q9NWF1, NCBI Gene:9204, RefSeq DNA:NT_032977, RefSeq Protein:NP_009098, RefSeq RNA:NM_007167, UCSC Genome Browser:NM_007167, UniProtKB:O95789 No chr1 35451766 35497569 34986165 35031968 +PA134981649 51364 HGNC:19412 ENSG00000004838 zinc finger MYND-type containing 10 ZMYND10 """Ciliary dyskinesia, primary, 22"", ""dynein axonemal assembly factor 7"", ""tumor suppressor BLU"", ""zinc finger, MYND-type containing 10""" BLU, CILD22, DNAAF7 Yes No Ensembl:ENSG00000004838, GeneCard:ZMYND10, HGNC:HGNC:19412, HumanCyc Gene:HS11996, ModBase:O75800, NCBI Gene:51364, OMIM:607070, RefSeq DNA:NT_022517, RefSeq Protein:NP_056980, RefSeq RNA:NM_015896, UniProtKB:B3KU54, UniProtKB:O75800 No chr3 50378537 50383459 50341106 50346028 +PA128394578 10771 HGNC:16966 ENSG00000015171 zinc finger MYND-type containing 11 ZMYND11 zinc finger, MYND-type containing 11 BRAM1, BS69 Yes No Comparative Toxicogenomics Database:10771, Ensembl:ENSG00000015171, GeneCard:ZMYND11, HGNC:HGNC:16966, HumanCyc Gene:HS00365, ModBase:Q15326, NCBI Gene:10771, OMIM:608668, RefSeq DNA:NT_008705, RefSeq Protein:NP_001154954, RefSeq Protein:NP_001189393, RefSeq Protein:NP_001189394, RefSeq Protein:NP_001189395, RefSeq Protein:NP_001189396, RefSeq Protein:NP_001189397, RefSeq Protein:NP_006615, RefSeq Protein:NP_997644, RefSeq RNA:NM_001161482, RefSeq RNA:NM_001202464, RefSeq RNA:NM_001202465, RefSeq RNA:NM_001202466, RefSeq RNA:NM_001202467, RefSeq RNA:NM_001202468, RefSeq RNA:NM_006624, RefSeq RNA:NM_212479, UCSC Genome Browser:NM_006624, UniProtKB:Q15326, UniProtKB:Q2LD48, UniProtKB:Q5BJG6, UniProtKB:Q5UGI2, UniProtKB:Q8N4B3 No chr10 180405 300577 134340 254637 +PA134993145 84217 HGNC:21192 ENSG00000066185 zinc finger MYND-type containing 12 ZMYND12 zinc finger, MYND-type containing 12 DKFZp434N2435 Yes No Ensembl:ENSG00000066185, GeneCard:ZMYND12, HGNC:HGNC:21192, HumanCyc Gene:HS12179, ModBase:Q9H0C1, NCBI Gene:84217, RefSeq DNA:NT_032977, RefSeq Protein:NP_001139664, RefSeq Protein:NP_115633, RefSeq RNA:NM_001146192, RefSeq RNA:NM_032257, UniProtKB:B4DX70, UniProtKB:Q9H0C1 No chr1 42896000 42921938 42430329 42456267 +PA134873463 84225 HGNC:20997 ENSG00000141497 zinc finger MYND-type containing 15 ZMYND15 zinc finger, MYND-type containing 15 DKFZp434N127 Yes No Comparative Toxicogenomics Database:84225, Ensembl:ENSG00000141497, GeneCard:ZMYND15, HGNC:HGNC:20997, HumanCyc Gene:HS13884, ModBase:Q9H091, NCBI Gene:84225, RefSeq DNA:NT_010718, RefSeq Protein:NP_001129518, RefSeq Protein:NP_115641, RefSeq RNA:NM_001136046, RefSeq RNA:NM_032265, UniProtKB:B4DXY5, UniProtKB:Q9H091 No chr17 4643059 4649414 4740015 4746119 +PA134878875 116225 HGNC:21146 ENSG00000165724 zinc finger MYND-type containing 19 ZMYND19 zinc finger, MYND-type containing 19 MIZIP Yes No Comparative Toxicogenomics Database:116225, Ensembl:ENSG00000165724, GeneCard:ZMYND19, HGNC:HGNC:21146, HumanCyc Gene:HS15359, ModBase:Q96E35, NCBI Gene:116225, OMIM:611424, RefSeq DNA:NT_024000, RefSeq Protein:NP_612471, RefSeq RNA:NM_138462, UniProtKB:Q96E35 No chr9 140476531 140484937 137582079 137590485 +PA162409890 23613 HGNC:9397 ENSG00000101040 zinc finger MYND-type containing 8 ZMYND8 """RACK like clone 7"", ""zinc finger, MYND-type containing 8""" KIAA1125, PRKCBP1, RACK7 Yes No Ensembl:ENSG00000101040, GeneCard:ZMYND8, HGNC:HGNC:9397, HumanCyc Gene:HS02184, ModBase:Q9H1F4, NCBI Gene:23613, RefSeq DNA:NT_011362, RefSeq Protein:NP_036540, RefSeq Protein:NP_898868, RefSeq Protein:NP_898869, RefSeq RNA:NM_012408, RefSeq RNA:NM_183047, RefSeq RNA:NM_183048, UniProtKB:Q2HXW0, UniProtKB:Q2HXW1, UniProtKB:Q2HXW2, UniProtKB:Q9ULU4 No chr20 45837994 45985485 47209214 47357780 +PA166352301 HGNC:12878 zinc finger protein 1 ZNF1 A11-500, Zfp-4, Zfp4 Yes No HGNC:HGNC:12878 No 0 0 0 0 +PA37468 7556 HGNC:12879 ENSG00000256223 zinc finger protein 10 ZNF10 KOX1 Yes No Ensembl:ENSG00000256223, GenAtlas:ZNF10, GeneCard:ZNF10, HGNC:HGNC:12879, HumanCyc Gene:HS09838, ModBase:P21506, NCBI Gene:7556, OMIM:194538, RefSeq DNA:NT_024477, RefSeq Protein:NP_056209, RefSeq RNA:NM_015394, UCSC Genome Browser:NM_015394, UniProtKB:P21506, UniProtKB:Q9UG14 No chr12 133707214 133736051 133130628 133159465 +PA37469 163227 HGNC:12880 ENSG00000197020 zinc finger protein 100 ZNF100 Yes Yes Ensembl:ENSG00000197020, GenAtlas:ZNF100, GeneCard:ZNF100, HGNC:HGNC:12880, HumanCyc Gene:HS17305, ModBase:Q8IYN0, NCBI Gene:163227, OMIM:603982, RefSeq DNA:NT_011295, RefSeq Protein:NP_775802, RefSeq RNA:NM_173531, UniProtKB:Q8IYN0 No chr19 21906417 21950430 21724041 21767628 +PA37470 94039 HGNC:12881 ENSG00000181896 zinc finger protein 101 ZNF101 DKFZp570I0164, HZF12 Yes No Ensembl:ENSG00000181896, GenAtlas:ZNF101, GeneCard:ZNF101, HGNC:HGNC:12881, HumanCyc Gene:HS11680, ModBase:Q8IZC7, NCBI Gene:94039, OMIM:603983, RefSeq DNA:NT_011295, RefSeq Protein:NP_149981, RefSeq RNA:NM_033204, UniProtKB:Q8IZC7 No chr19 19778962 19791735 19668153 19683506 +PA166048944 64397 HGNC:12886, HGNC:23240 ENSG00000103994 zinc finger protein 106 ZNF106 SH3-domain binding protein 3 SH3BP3, ZFP106, ZNF474 Yes No Comparative Toxicogenomics Database:64397, Ensembl:ENSG00000103994, GeneCard:ZFP106, HGNC:HGNC:12886, HGNC:HGNC:23240, HumanCyc Gene:HS12537, ModBase:Q96M37, NCBI Gene:64397, RefSeq DNA:NT_010194, RefSeq Protein:NP_071918, RefSeq RNA:NM_022473, UniProtKB:Q9H2Y7 No chr15 42705016 42783390 42412437 42491197 +PA37476 51427 HGNC:12887 ENSG00000196247 zinc finger protein 107 ZNF107 ZFD25, ZNF588, smap-7 Yes No Ensembl:ENSG00000196247, GenAtlas:ZNF107, GeneCard:ZNF107, HGNC:HGNC:12887, HumanCyc Gene:HS10608, ModBase:Q9UII5, NCBI Gene:51427, OMIM:603989, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001013768, RefSeq Protein:NP_057304, RefSeq RNA:NM_001013746, RefSeq RNA:NM_016220, UniProtKB:Q8WVL4, UniProtKB:Q9UII5 No chr7 64126461 64171960 64665012 64711582 +PA166048945 7771 HGNC:12892 ENSG00000062370 zinc finger protein 112 ZNF112 ZFP112, ZNF228 Yes No Ensembl:ENSG00000062370, HGNC:HGNC:12892, NCBI Gene:7771 No chr19 44830706 44860856 44326553 44356704 +PA37483 163071 HGNC:12894 ENSG00000178150 zinc finger protein 114 ZNF114 MGC17986 Yes No Comparative Toxicogenomics Database:163071, Ensembl:ENSG00000178150, GenAtlas:ZNF114, GeneCard:ZNF114, HGNC:HGNC:12894, HumanCyc Gene:HS11255, ModBase:Q8NC26, NCBI Gene:163071, OMIM:603996, RefSeq DNA:NT_011109, RefSeq Protein:NP_705836, RefSeq RNA:NM_153608, UniProtKB:Q8NC26 No chr19 48774354 48790863 48270099 48287608 +PA134969294 100132509 HGNC:23771 ENSG00000234538 zinc finger protein 114 pseudogene 1 ZNF114P1 Yes No Ensembl:ENSG00000234538, GeneCard:ZNF114P1, HGNC:HGNC:23771, NCBI Gene:100132509 No chr21 15211051 15212115 13838730 13839795 +PA166352303 HGNC:12896 zinc finger protein 116 (Y21) ZNF116 Yes No HGNC:HGNC:12896 No 0 0 0 0 +PA37486 51351 HGNC:12897 ENSG00000152926 zinc finger protein 117 ZNF117 H-plk, HPF9 Yes No Ensembl:ENSG00000152926, GenAtlas:ZNF117, GeneCard:ZNF117, HGNC:HGNC:12897, ModBase:Q03924, NCBI Gene:51351, OMIM:194624, RefSeq DNA:NG_006928, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_056936, RefSeq RNA:NM_015852, UCSC Genome Browser:NM_024498, UniProtKB:Q03924 No chr7 64434830 64451414 64974452 64991036 +PA37491 7559 HGNC:12902 ENSG00000164631 zinc finger protein 12 ZNF12 GIOT-3, KOX3, ZNF325 Yes No Ensembl:ENSG00000164631, GenAtlas:ZNF12, GeneCard:ZNF12, HGNC:HGNC:12902, ModBase:P17014, NCBI Gene:7559, OMIM:194536, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_008887, RefSeq Protein:NP_057349, RefSeq RNA:NM_006956, RefSeq RNA:NM_016265, UniProtKB:B2RNQ7, UniProtKB:Q8NHZ0 No chr7 6728064 6746566 6688433 6706935 +PA37493 7675 HGNC:12904 ENSG00000197961 zinc finger protein 121 ZNF121 D19S204, ZHC32, ZNF20 Yes No Ensembl:ENSG00000197961, GenAtlas:ZNF121, GeneCard:ZNF121, HGNC:HGNC:12904, ModBase:P58317, NCBI Gene:7675, OMIM:194628, RefSeq DNA:NT_011295, RefSeq Protein:NP_001008727, RefSeq RNA:NM_001008727, UniProtKB:P58317 No chr19 9676292 9695209 9565657 9584544 +PA37495 100188891 ENSG00000166080 zinc finger protein 123 ZNF123 Yes No Ensembl:ENSG00000166080, GenAtlas:ZNF123, GeneCard:ZNF123, NCBI Gene:100188891, OMIM:194630, UniProtKB:P35273 No chr11 129165098 129166510 129295203 129296615 +PA37496 7678 HGNC:12907 ENSG00000196418 zinc finger protein 124 ZNF124 HZF-16, HZF16 Yes No Ensembl:ENSG00000196418, GenAtlas:ZNF124, GeneCard:ZNF124, HGNC:HGNC:12907, HumanCyc Gene:HS11254, ModBase:Q15973, NCBI Gene:7678, OMIM:194631, RefSeq DNA:NT_167186, RefSeq Protein:NP_003422, RefSeq RNA:NM_003431, UCSC Genome Browser:NM_003431, UniProtKB:Q15973 No chr1 247285277 247335529 247121975 247172378 +PA166352304 HGNC:12908 zinc finger protein 125 ZNF125 HZF-3, HZF3 Yes No HGNC:HGNC:12908 No 0 0 0 0 +PA166352305 HGNC:12909 zinc finger protein 126 ZNF126 HZF-2, HZF2 Yes No HGNC:HGNC:12909 No 0 0 0 0 +PA37504 7690 HGNC:12915 ENSG00000172262 zinc finger protein 131 ZNF131 zinc finger and BTB domain containing 35 ZBTB35, pHZ-10 Yes No Ensembl:ENSG00000172262, GenAtlas:ZNF131, GeneCard:ZNF131, HGNC:HGNC:12915, HumanCyc Gene:HS10480, ModBase:P52739, NCBI Gene:7690, OMIM:604073, RefSeq DNA:NT_006576, RefSeq Protein:NP_003423, RefSeq RNA:NM_003432, UniProtKB:P52739 No chr5 43120985 43176351 43120848 43176324 +PA37505 7691 HGNC:12916 ENSG00000131849 zinc finger protein 132 ZNF132 pHZ-12 Yes No Ensembl:ENSG00000131849, GenAtlas:ZNF132, GeneCard:ZNF132, HGNC:HGNC:12916, HumanCyc Gene:HS05578, ModBase:P52740, NCBI Gene:7691, OMIM:604074, RefSeq DNA:NT_011109, RefSeq Protein:NP_003424, RefSeq RNA:NM_003433, UCSC Genome Browser:NM_003433, UniProtKB:B3KQ54, UniProtKB:P52740 No chr19 58944181 58951589 58432814 58440222 +PA134900961 7692 HGNC:12917 ENSG00000125846 zinc finger protein 133 ZNF133 ZNF150, pHZ-13, pHZ-66 Yes No Ensembl:ENSG00000125846, GeneCard:ZNF133, HGNC:HGNC:12917, HumanCyc Gene:HS04954, ModBase:P52736, NCBI Gene:7692, OMIM:604075, RefSeq DNA:NT_011387, RefSeq Protein:NP_001076799, RefSeq Protein:NP_003425, RefSeq RNA:NM_001083330, RefSeq RNA:NM_003434, UniProtKB:P52736 No chr20 18268872 18297640 18288228 18316996 +PA37506 7693 HGNC:12918 ENSG00000213762 zinc finger protein 134 ZNF134 pHZ-15 Yes Yes Ensembl:ENSG00000213762, GenAtlas:ZNF134, GeneCard:ZNF134, HGNC:HGNC:12918, ModBase:P52741, NCBI Gene:7693, OMIM:604076, RefSeq DNA:NT_011109, RefSeq Protein:NP_003426, RefSeq RNA:NM_003435, UCSC Genome Browser:NM_003435, UniProtKB:P52741 No chr19 58125830 58133636 57614219 57624717 +PA37507 7694 HGNC:12919 ENSG00000176293 zinc finger protein 135 ZNF135 ZNF61, ZNF78L1, pHZ-17 Yes No Comparative Toxicogenomics Database:7694, Ensembl:ENSG00000176293, GenAtlas:ZNF135, GeneCard:ZNF135, HGNC:HGNC:12919, HumanCyc Gene:HS11034, ModBase:P52742, NCBI Gene:7694, OMIM:604077, RefSeq DNA:NT_011109, RefSeq Protein:NP_001157999, RefSeq Protein:NP_001158001, RefSeq Protein:NP_001158002, RefSeq Protein:NP_003427, RefSeq Protein:NP_009065, RefSeq RNA:NM_001164527, RefSeq RNA:NM_001164529, RefSeq RNA:NM_001164530, RefSeq RNA:NM_003436, RefSeq RNA:NM_007134, UCSC Genome Browser:NM_003436, UniProtKB:B4DHH9, UniProtKB:B4DLZ7, UniProtKB:Q8N1I7, UniProtKB:Q8N9M3 No chr19 58570607 58581123 58059227 58069755 +PA37508 7695 HGNC:12920 ENSG00000196646 zinc finger protein 136 ZNF136 pHZ-20 Yes No Ensembl:ENSG00000196646, GenAtlas:ZNF136, GeneCard:ZNF136, HGNC:HGNC:12920, HumanCyc Gene:HS02767, ModBase:P52737, NCBI Gene:7695, OMIM:604078, RefSeq DNA:NT_011295, RefSeq Protein:NP_003428, RefSeq RNA:NM_003437, UCSC Genome Browser:NM_003437, UniProtKB:P52737 No chr19 12273872 12300064 12162672 12189880 +PA37509 7696 HGNC:12921 ENSG00000123870 zinc finger protein 137, pseudogene ZNF137P pHZ-30 Yes No Ensembl:ENSG00000123870, GenAtlas:ZNF137, GeneCard:ZNF137P, HGNC:HGNC:12921, ModBase:P52743, NCBI Gene:7696, OMIM:604079, RefSeq DNA:NT_011109, RefSeq Protein:NP_003429, RefSeq RNA:NM_003438, RefSeq RNA:NR_023311, UCSC Genome Browser:NM_003438 No chr19 53099937 53103405 52596684 52600152 +PA37510 7697 HGNC:12922 ENSG00000197008 zinc finger protein 138 ZNF138 pHZ-32 Yes No Ensembl:ENSG00000197008, GenAtlas:ZNF138, GeneCard:ZNF138, HGNC:HGNC:12922, HumanCyc Gene:HS10039, ModBase:P52744, NCBI Gene:7697, OMIM:604080, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001153655, RefSeq Protein:NP_006515, RefSeq RNA:NM_001160183, RefSeq RNA:NM_006524, RefSeq RNA:NR_027660, RefSeq RNA:NR_027661, UniProtKB:A2RRP7, UniProtKB:B4DFX2, UniProtKB:B4DP87 No chr7 64254766 64314178 64794388 64853800 +PA37511 7561 HGNC:12924 ENSG00000105708 zinc finger protein 14 ZNF14 GIOT-4, KOX6 Yes No Ensembl:ENSG00000105708, GenAtlas:ZNF14, GeneCard:ZNF14, HGNC:HGNC:12924, HumanCyc Gene:HS02802, ModBase:P17017, NCBI Gene:7561, OMIM:194556, RefSeq DNA:NT_011295, RefSeq Protein:NP_066358, RefSeq RNA:NM_021030, UCSC Genome Browser:NM_021030, UniProtKB:P17017 No chr19 19821281 19843921 19710472 19733112 +PA37512 7699 HGNC:12925 ENSG00000196387 zinc finger protein 140 ZNF140 pHZ-39 Yes No Ensembl:ENSG00000196387, GenAtlas:ZNF140, GeneCard:ZNF140, HGNC:HGNC:12925, HumanCyc Gene:HS06621, ModBase:P52738, NCBI Gene:7699, OMIM:604082, RefSeq DNA:NT_024477, RefSeq Protein:NP_003431, RefSeq RNA:NM_003440, UCSC Genome Browser:NM_003440, UniProtKB:P52738 No chr12 133657005 133685566 133076545 133107674 +PA37513 7700 HGNC:12926 ENSG00000131127 zinc finger protein 141 ZNF141 D4S90, pHZ-44 Yes No Ensembl:ENSG00000131127, GenAtlas:ZNF141, GeneCard:ZNF141, HGNC:HGNC:12926, HumanCyc Gene:HS05492, ModBase:Q15928, NCBI Gene:7700, OMIM:194648, RefSeq DNA:NT_037622, RefSeq Protein:NP_003432, RefSeq RNA:NM_003441, UCSC Genome Browser:NM_003441, UniProtKB:Q15928 No chr4 331417 370076 336995 377071 +PA37514 7701 HGNC:12927 ENSG00000115568 zinc finger protein 142 ZNF142 KIAA0236, pHZ-49 Yes No Ensembl:ENSG00000115568, GenAtlas:ZNF142, GeneCard:ZNF142, HGNC:HGNC:12927, HumanCyc Gene:HS03910, NCBI Gene:7701, OMIM:604083, RefSeq DNA:NT_005403, RefSeq Protein:NP_001099007, RefSeq Protein:NP_005072, RefSeq RNA:NM_001105537, RefSeq RNA:NM_005081, UCSC Genome Browser:NM_005081, UniProtKB:P52746 No chr2 219502639 219524355 218637592 218659632 +PA37515 7702 HGNC:12928 ENSG00000166478 zinc finger protein 143 ZNF143 SBF, STAF, pHZ-1 Yes No Ensembl:ENSG00000166478, GenAtlas:ZNF143, GeneCard:ZNF143, HGNC:HGNC:12928, HumanCyc Gene:HS09403, ModBase:P52747, NCBI Gene:7702, OMIM:603433, RefSeq DNA:NT_009237, RefSeq Protein:NP_003433, RefSeq RNA:NM_003442, UCSC Genome Browser:NM_003442, UniProtKB:P52747 No chr11 9482512 9550071 9460965 9528524 +PA37518 7705 HGNC:12931 ENSG00000167635 zinc finger protein 146 ZNF146 OZF Yes No Ensembl:ENSG00000167635, GenAtlas:ZNF146, GeneCard:ZNF146, HGNC:HGNC:12931, HumanCyc Gene:HS09594, ModBase:Q15072, NCBI Gene:7705, OMIM:601505, RefSeq DNA:NT_011109, RefSeq Protein:NP_001093108, RefSeq Protein:NP_001093109, RefSeq Protein:NP_009076, RefSeq RNA:NM_001099638, RefSeq RNA:NM_001099639, RefSeq RNA:NM_007145, UCSC Genome Browser:NM_007145, UniProtKB:Q15072 No chr19 36705504 36729676 36214602 36238774 +PA37520 7707 HGNC:12933 ENSG00000163848 zinc finger protein 148 ZNF148 BERF-1, BFCOL1, HT-BETA, ZBP-89, ZFP148, pHZ-52 Yes No Comparative Toxicogenomics Database:7707, Ensembl:ENSG00000163848, GenAtlas:ZNF148, GeneCard:ZNF148, HGNC:HGNC:12933, ModBase:Q9UQR1, NCBI Gene:7707, OMIM:601897, RefSeq DNA:NT_005612, RefSeq Protein:NP_068799, RefSeq RNA:NM_021964, UCSC Genome Browser:NM_021964, UniProtKB:Q9UQR1 No chr3 124944513 125094198 125225669 125375354 +PA37523 7710 HGNC:12939 ENSG00000179909 zinc finger protein 154 ZNF154 pHZ-92 Yes No Ensembl:ENSG00000179909, GenAtlas:ZNF154, GeneCard:ZNF154, HGNC:HGNC:12939, HumanCyc Gene:HS11425, ModBase:Q13106, NCBI Gene:7710, OMIM:604085, RefSeq DNA:NT_011109, RefSeq Protein:NP_001078853, RefSeq RNA:NM_001085384, UniProtKB:Q13106 No chr19 58208594 58220579 57696275 57709211 +PA37524 7711 HGNC:12940 ENSG00000204920 zinc finger protein 155 ZNF155 pHZ-96 Yes No Ensembl:ENSG00000204920, GenAtlas:ZNF155, GeneCard:ZNF155, HGNC:HGNC:12940, HumanCyc Gene:HS08427, ModBase:Q12901, NCBI Gene:7711, OMIM:604086, RefSeq DNA:NT_011109, RefSeq Protein:NP_003436, RefSeq Protein:NP_932355, RefSeq RNA:NM_003445, RefSeq RNA:NM_198089, UCSC Genome Browser:NM_003445, UniProtKB:Q12901, UniProtKB:Q9H9E2 No chr19 44472014 44502477 43967006 43998325 +PA37525 7712 HGNC:12942 ENSG00000147117 zinc finger protein 157 ZNF157 HZF22 Yes No Ensembl:ENSG00000147117, GenAtlas:ZNF157, GeneCard:ZNF157, HGNC:HGNC:12942, HumanCyc Gene:HS07392, ModBase:P51786, NCBI Gene:7712, OMIM:300024, RefSeq DNA:NT_079573, RefSeq Protein:NP_003437, RefSeq RNA:NM_003446, UCSC Genome Browser:NM_003446, UniProtKB:P51786 No chrX 47229999 47273098 47370600 47413699 +PA37530 7564 HGNC:12947 ENSG00000170631 zinc finger protein 16 ZNF16 KOX9 Yes No Ensembl:ENSG00000170631, GenAtlas:ZNF16, GeneCard:ZNF16, HGNC:HGNC:12947, HumanCyc Gene:HS07468, ModBase:P17020, NCBI Gene:7564, OMIM:601262, RefSeq DNA:NT_037704, RefSeq Protein:NP_001025147, RefSeq Protein:NP_008889, RefSeq RNA:NM_001029976, RefSeq RNA:NM_006958, UCSC Genome Browser:NM_006958, UniProtKB:P17020, UniProtKB:Q45SH7, UniProtKB:Q9NRA4 No chr8 146155744 146176274 144930358 144950888 +PA37531 90338 HGNC:12948 ENSG00000170949 zinc finger protein 160 ZNF160 F11, FLJ00032, HKr18, HZF5, KIAA1611, KR18 Yes No Comparative Toxicogenomics Database:90338, Ensembl:ENSG00000170949, GenAtlas:ZNF160, GeneCard:ZNF160, HGNC:HGNC:12948, HumanCyc Gene:HS04694, ModBase:Q14589, ModBase:Q9HCG1, NCBI Gene:90338, OMIM:600398, RefSeq DNA:NT_011109, RefSeq Protein:NP_001096073, RefSeq Protein:NP_150630, RefSeq Protein:NP_942596, RefSeq RNA:NM_001102603, RefSeq RNA:NM_033288, RefSeq RNA:NM_198893, UniProtKB:Q9HCG1 No chr19 53569181 53606690 53064882 53103434 +PA166352306 HGNC:12952 zinc finger protein 164 ZNF164 Yes No HGNC:HGNC:12952 No 0 0 0 0 +PA37535 7718 HGNC:12953 ENSG00000197279 zinc finger protein 165 ZNF165 cancer/testis antigen 53 CT53, ZSCAN7 Yes Yes Ensembl:ENSG00000197279, GenAtlas:ZNF165, GeneCard:ZNF165, HGNC:HGNC:12953, HumanCyc Gene:HS10669, ModBase:P49910, NCBI Gene:7718, OMIM:600834, RefSeq DNA:NT_007592, RefSeq Protein:NP_003438, RefSeq RNA:NM_003447, UCSC Genome Browser:NM_003447, UniProtKB:P49910, UniProtKB:Q53Z40 No chr6 28048482 28057341 28080704 28104244 +PA37539 169841 HGNC:12957 ENSG00000175787 zinc finger protein 169 ZNF169 MGC51961 Yes No Ensembl:ENSG00000175787, GenAtlas:ZNF169, GeneCard:ZNF169, HGNC:HGNC:12957, ModBase:Q14929, NCBI Gene:169841, OMIM:603404, RefSeq DNA:NT_008470, RefSeq Protein:NP_919301, RefSeq RNA:NM_194320, UniProtKB:Q14929 No chr9 97021578 97065291 94259266 94303967 +PA37540 7565 HGNC:12958 ENSG00000186272 zinc finger protein 17 ZNF17 FLJ40864, FLJ46058, FLJ46615, HPF3, KIAA1947, KOX10 Yes No Ensembl:ENSG00000186272, GenAtlas:ZNF17, GeneCard:ZNF17, HGNC:HGNC:12958, ModBase:P17021, NCBI Gene:7565, RefSeq DNA:NT_011109, RefSeq Protein:NP_008890, RefSeq RNA:NM_006959, UniProtKB:P17021 No chr19 57922529 57933307 57409252 57421939 +PA166352307 HGNC:12960 zinc finger protein 171 (clone 165) ZNF171 Yes No HGNC:HGNC:12960 No 0 0 0 0 +PA166352308 HGNC:12961 zinc finger protein 172 (clone 130) ZNF172 Yes No HGNC:HGNC:12961 No 0 0 0 0 +PA37545 7727 HGNC:12963 ENSG00000103343 zinc finger protein 174 ZNF174 ZSCAN8 Yes No Ensembl:ENSG00000103343, GenAtlas:ZNF174, GeneCard:ZNF174, HGNC:HGNC:12963, HumanCyc Gene:HS02492, ModBase:Q15697, NCBI Gene:7727, OMIM:603900, RefSeq DNA:NT_010393, RefSeq Protein:NP_001027463, RefSeq Protein:NP_003441, RefSeq RNA:NM_001032292, RefSeq RNA:NM_003450, UCSC Genome Browser:NM_003450, UniProtKB:Q15697 No chr16 3451190 3459364 3401190 3409364 +PA37546 7728 HGNC:12964 ENSG00000105497 zinc finger protein 175 ZNF175 OTK18 Yes No Ensembl:ENSG00000105497, GenAtlas:ZNF175, GeneCard:ZNF175, HGNC:HGNC:12964, HumanCyc Gene:HS02749, ModBase:Q9Y473, NCBI Gene:7728, OMIM:601139, RefSeq DNA:NT_011109, RefSeq Protein:NP_009078, RefSeq RNA:NM_007147, UCSC Genome Browser:NM_007147, UniProtKB:Q9Y473 No chr19 52074531 52092991 51571237 51589738 +PA37548 7730 HGNC:12966 ENSG00000188629 zinc finger protein 177 ZNF177 Yes No Comparative Toxicogenomics Database:7730, Ensembl:ENSG00000188629, GenAtlas:ZNF177, GeneCard:ZNF177, HGNC:HGNC:12966, HumanCyc Gene:HS09638, ModBase:Q13360, NCBI Gene:7730, OMIM:601276, RefSeq DNA:NT_011295, RefSeq Protein:NP_001166121, RefSeq Protein:NP_001166122, RefSeq Protein:NP_003442, RefSeq RNA:NM_001172650, RefSeq RNA:NM_001172651, RefSeq RNA:NM_003451, UCSC Genome Browser:NM_003451, UniProtKB:B4DY57, UniProtKB:Q13360 No chr19 9473696 9493293 9363020 9382617 +PA37551 7566 HGNC:12969 ENSG00000154957 zinc finger protein 18 ZNF18 HDSG1, KOX11, ZKSCAN6, ZNF535, ZSCAN38, Zfp535 Yes No Ensembl:ENSG00000154957, GenAtlas:ZNF18, GeneCard:ZNF18, HGNC:HGNC:12969, ModBase:P17022, NCBI Gene:7566, OMIM:194524, RefSeq DNA:NT_010718, RefSeq Protein:NP_653281, RefSeq RNA:NM_144680, UniProtKB:P17022 No chr17 11880756 11901736 11957433 11997510 +PA37552 7733 HGNC:12970 ENSG00000167384 zinc finger protein 180 ZNF180 HHZ168 Yes No Ensembl:ENSG00000167384, GenAtlas:ZNF180, GeneCard:ZNF180, HGNC:HGNC:12970, HumanCyc Gene:HS09553, ModBase:Q9UJW8, NCBI Gene:7733, OMIM:606740, RefSeq DNA:NT_011109, RefSeq Protein:NP_037388, RefSeq RNA:NM_013256, UCSC Genome Browser:NM_013256, UniProtKB:Q9UJW8 No chr19 44978645 45004574 44474428 44500539 +PA37553 339318 HGNC:12971 ENSG00000197841 zinc finger protein 181 ZNF181 HHZ181, MGC44316 Yes No Ensembl:ENSG00000197841, GenAtlas:ZNF181, GeneCard:ZNF181, HGNC:HGNC:12971, ModBase:Q2M3W8, NCBI Gene:339318, OMIM:606741, RefSeq DNA:NT_011109, RefSeq Protein:NP_001025168, RefSeq Protein:NP_001139137, RefSeq RNA:NM_001029997, RefSeq RNA:NM_001145665, UniProtKB:B4DM69, UniProtKB:B7ZKX3, UniProtKB:Q2M3W8 No chr19 35225103 35233774 34733703 34746483 +PA37581 7569 HGNC:13001 ENSG00000147118 zinc finger protein 182 ZNF182 HHZ150, KOX14, ZNF21, Zfp182 Yes No Ensembl:ENSG00000147118, GenAtlas:ZNF182, GeneCard:ZNF182, HGNC:HGNC:13001, ModBase:P17025, NCBI Gene:7569, OMIM:314993, RefSeq DNA:NG_021254, RefSeq DNA:NT_079573, RefSeq Protein:NP_001007089, RefSeq Protein:NP_001171570, RefSeq Protein:NP_008893, RefSeq RNA:NM_001007088, RefSeq RNA:NM_001178099, RefSeq RNA:NM_006962, UniProtKB:P17025, UniProtKB:Q96QH7 No chrX 47834250 47863394 47974851 48003995 +PA166352309 HGNC:12973 zinc finger protein 182-like ZNF182L HHZ150 Yes No HGNC:HGNC:12973 No 0 0 0 0 +PA37557 7738 HGNC:12975 ENSG00000096654 zinc finger protein 184 ZNF184 Yes No Ensembl:ENSG00000096654, GenAtlas:ZNF184, GeneCard:ZNF184, HGNC:HGNC:12975, HumanCyc Gene:HS01866, ModBase:Q99676, NCBI Gene:7738, OMIM:602277, RefSeq DNA:NT_007592, RefSeq Protein:NP_009080, RefSeq RNA:NM_007149, UCSC Genome Browser:NM_007149, UniProtKB:Q99676 No chr6 27418521 27440897 27450742 27473118 +PA37558 7739 HGNC:12976 ENSG00000147394 zinc finger protein 185 with LIM domain ZNF185 sciellin like, zinc finger protein 185 (LIM domain) SCELL Yes No Comparative Toxicogenomics Database:7739, Ensembl:ENSG00000147394, GenAtlas:ZNF185, GeneCard:ZNF185, HGNC:HGNC:12976, HumanCyc Gene:HS07424, ModBase:O15231, NCBI Gene:7739, OMIM:300381, RefSeq DNA:NG_021255, RefSeq DNA:NT_167198, RefSeq Protein:NP_001171577, RefSeq Protein:NP_001171578, RefSeq Protein:NP_001171579, RefSeq Protein:NP_001171580, RefSeq Protein:NP_001171581, RefSeq Protein:NP_001171584, RefSeq Protein:NP_001171586, RefSeq Protein:NP_009081, RefSeq RNA:NM_001178106, RefSeq RNA:NM_001178107, RefSeq RNA:NM_001178108, RefSeq RNA:NM_001178109, RefSeq RNA:NM_001178110, RefSeq RNA:NM_001178113, RefSeq RNA:NM_001178115, RefSeq RNA:NM_007150, UCSC Genome Browser:NM_007150, UniProtKB:B4DLE9, UniProtKB:B8K2L9, UniProtKB:O15231 No chrX 152066671 152142025 152898132 152973481 +PA166352310 HGNC:12979 zinc finger protein 188 ZNF188 Yes No HGNC:HGNC:12979 No 0 0 0 0 +PA37561 7743 HGNC:12980 ENSG00000136870 zinc finger protein 189 ZNF189 Yes No Ensembl:ENSG00000136870, GenAtlas:ZNF189, GeneCard:ZNF189, HGNC:HGNC:12980, HumanCyc Gene:HS06233, ModBase:O75820, NCBI Gene:7743, OMIM:603132, RefSeq DNA:NT_008470, RefSeq Protein:NP_003443, RefSeq Protein:NP_932094, RefSeq RNA:NM_003452, RefSeq RNA:NM_197977, UCSC Genome Browser:NM_003452, UniProtKB:O75820 No chr9 104161136 104172942 101398830 101410660 +PA37562 7567 HGNC:12981 ENSG00000157429 zinc finger protein 19 ZNF19 KOX12, MGC51021 Yes No Ensembl:ENSG00000157429, GenAtlas:ZNF19, GeneCard:ZNF19, HGNC:HGNC:12981, HumanCyc Gene:HS08212, ModBase:P17023, NCBI Gene:7567, OMIM:194525, RefSeq DNA:NT_010498, RefSeq Protein:NP_008892, RefSeq RNA:NM_006961, UCSC Genome Browser:NM_006961, UniProtKB:P17023 No chr16 71507976 71598992 71474073 71489351 +PA134955697 651302 HGNC:18777 zinc finger protein 192 pseudogene 1 ZNF192P1 zinc finger protein 389, pseudogene ZNF389P, dJ265C24.4 Yes No GeneCard:ZNF192P1, HGNC:HGNC:18777, NCBI Gene:651302, RefSeq DNA:NT_007592, RefSeq Protein:NP_001138601, RefSeq RNA:NM_001145129 No chr6 +PA166352311 HGNC:12985 zinc finger protein 194 ZNF194 Yes No HGNC:HGNC:12985 No 0 0 0 0 +PA37566 7748 HGNC:12986 ENSG00000005801 zinc finger protein 195 ZNF195 Yes No Ensembl:ENSG00000005801, GenAtlas:ZNF195, GeneCard:ZNF195, HGNC:HGNC:12986, HumanCyc Gene:HS00148, NCBI Gene:7748, OMIM:602187, RefSeq DNA:NT_009237, RefSeq Protein:NP_001123991, RefSeq Protein:NP_001123992, RefSeq Protein:NP_001229770, RefSeq Protein:NP_001229771, RefSeq Protein:NP_001229772, RefSeq Protein:NP_009083, RefSeq RNA:NM_001130519, RefSeq RNA:NM_001130520, RefSeq RNA:NM_001242841, RefSeq RNA:NM_001242842, RefSeq RNA:NM_001242843, RefSeq RNA:NM_007152, RefSeq RNA:NR_040083, UCSC Genome Browser:NM_007152, UniProtKB:O14628 No chr11 3379157 3400452 3357927 3379222 +PA166352312 HGNC:12987 zinc finger protein 196 ZNF196 Yes No HGNC:HGNC:12987 No 0 0 0 0 +PA37568 10168 HGNC:12988 ENSG00000186448 zinc finger protein 197 ZNF197 D3S1363E, P18, ZKSCAN9, ZNF166, ZSCAN41 Yes No Ensembl:ENSG00000186448, GenAtlas:ZNF197, GeneCard:ZNF197, HGNC:HGNC:12988, HumanCyc Gene:HS10050, ModBase:O14709, NCBI Gene:10168, RefSeq DNA:NT_022517, RefSeq Protein:NP_001020026, RefSeq Protein:NP_008922, RefSeq RNA:NM_001024855, RefSeq RNA:NM_006991, UCSC Genome Browser:NM_006991, UniProtKB:O14709, UniProtKB:Q7Z6G1, UniProtKB:Q86VG0 No chr3 44666511 44689963 44625017 44648471 +PA166352313 HGNC:12990 zinc finger protein 199 ZNF199 Yes No HGNC:HGNC:12990 No 0 0 0 0 +PA37571 7549 HGNC:12991 ENSG00000275111 zinc finger protein 2 ZNF2 A1-5, ZNF661, Zfp661 Yes No Ensembl:ENSG00000275111, GenAtlas:ZNF2, GeneCard:ZNF2, HGNC:HGNC:12991, HumanCyc Gene:HS08782, ModBase:Q9BSG1, NCBI Gene:7549, OMIM:194500, RefSeq DNA:NT_022171, RefSeq Protein:NP_001017396, RefSeq Protein:NP_066574, RefSeq RNA:NM_001017396, RefSeq RNA:NM_021088, UCSC Genome Browser:NM_021088, UniProtKB:B0AZN8, UniProtKB:Q9BSG1 No chr2 95831165 95850065 95165417 95184317 +PA37572 7568 HGNC:12992 ENSG00000132010 zinc finger protein 20 ZNF20 KOX13 Yes No Ensembl:ENSG00000132010, GenAtlas:ZNF20, GeneCard:ZNF20, HGNC:HGNC:12992, HumanCyc Gene:HS05592, ModBase:P17024, NCBI Gene:7568, OMIM:194557, RefSeq DNA:NT_011295, RefSeq Protein:NP_001190179, RefSeq Protein:NP_066966, RefSeq RNA:NM_001203250, RefSeq RNA:NM_021143, UCSC Genome Browser:NM_021143, UniProtKB:P17024 No chr19 12242165 12251222 12131350 12140407 +PA37573 7752 HGNC:12993 ENSG00000010539 zinc finger protein 200 ZNF200 Yes No Ensembl:ENSG00000010539, GenAtlas:ZNF200, GeneCard:ZNF200, HGNC:HGNC:12993, HumanCyc Gene:HS00288, ModBase:P98182, NCBI Gene:7752, OMIM:603231, RefSeq DNA:NT_010393, RefSeq Protein:NP_001138918, RefSeq Protein:NP_001138919, RefSeq Protein:NP_001138920, RefSeq Protein:NP_003445, RefSeq Protein:NP_932353, RefSeq Protein:NP_932354, RefSeq RNA:NM_001145446, RefSeq RNA:NM_001145447, RefSeq RNA:NM_001145448, RefSeq RNA:NM_003454, RefSeq RNA:NM_198087, RefSeq RNA:NM_198088, UCSC Genome Browser:NM_003454, UniProtKB:B3KP91, UniProtKB:P98182, UniProtKB:Q7Z5V1 No chr16 3272325 3286221 3222325 3236235 +PA37574 7753 HGNC:12994 ENSG00000166261 zinc finger protein 202 ZNF202 ZKSCAN10, ZSCAN42 Yes No Ensembl:ENSG00000166261, GenAtlas:ZNF202, GeneCard:ZNF202, HGNC:HGNC:12994, HumanCyc Gene:HS09364, ModBase:O95125, NCBI Gene:7753, OMIM:603430, RefSeq DNA:NT_033899, RefSeq Protein:NP_003446, RefSeq RNA:NM_003455, UCSC Genome Browser:NM_003455, UniProtKB:O95125 No chr11 123594997 123612383 123723927 123741705 +PA37575 7754 HGNC:12995 ENSG00000204789 zinc finger protein 204, pseudogene ZNF204P ZNF184-Lp, ZNF315P, b24o18.1 Yes No Ensembl:ENSG00000204789, GenAtlas:ZNF204, GeneCard:ZNF204P, HGNC:HGNC:12995, NCBI Gene:7754, OMIM:603282, RefSeq DNA:NT_007592, RefSeq RNA:NR_002722, RefSeq RNA:NR_024553 No chr6 27325602 27343153 27357823 27375374 +PA37576 7755 HGNC:12996 ENSG00000122386 zinc finger protein 205 ZNF205 ZNF210, Zfp13 Yes No Ensembl:ENSG00000122386, GenAtlas:ZNF205, GeneCard:ZNF205, HGNC:HGNC:12996, HumanCyc Gene:HS04566, ModBase:O95201, NCBI Gene:7755, OMIM:603436, RefSeq DNA:NT_010393, RefSeq Protein:NP_001035893, RefSeq Protein:NP_003447, RefSeq RNA:NM_001042428, RefSeq RNA:NM_003456, UCSC Genome Browser:NM_003456, UniProtKB:O95201 No chr16 3162563 3170528 3112562 3120517 +PA37578 7756 HGNC:12998 ENSG00000010244 zinc finger protein 207 ZNF207 BuGZ Yes No Ensembl:ENSG00000010244, GenAtlas:ZNF207, GeneCard:ZNF207, HGNC:HGNC:12998, HumanCyc Gene:HS00276, ModBase:O43670, NCBI Gene:7756, OMIM:603428, RefSeq DNA:NT_010799, RefSeq Protein:NP_001027464, RefSeq Protein:NP_001091977, RefSeq Protein:NP_003448, RefSeq RNA:NM_001032293, RefSeq RNA:NM_001098507, RefSeq RNA:NM_003457, UCSC Genome Browser:NM_003457, UniProtKB:O43670 No chr17 30677071 30697468 32350117 32381885 +PA37579 7757 HGNC:12999 ENSG00000160321 zinc finger protein 208 ZNF208 zinc finger protein 95 PMIDP, ZNF95 Yes No Ensembl:ENSG00000160321, GenAtlas:ZNF208, GeneCard:ZNF208, HGNC:HGNC:12999, HumanCyc Gene:HS04238, ModBase:O43345, NCBI Gene:7757, OMIM:603977, RefSeq DNA:NT_011295, RefSeq Protein:NP_009084, RefSeq RNA:NM_007153, UCSC Genome Browser:NM_007153 No chr19 22148897 22193745 21966095 22010990 +PA37582 10520 HGNC:13003 ENSG00000121417 zinc finger protein 211 ZNF211 CH2H2-25, ZNF-25 Yes Yes Ensembl:ENSG00000121417, GenAtlas:ZNF211, GeneCard:ZNF211, HGNC:HGNC:13003, HumanCyc Gene:HS04497, ModBase:Q5EBL6, NCBI Gene:10520, OMIM:601856, RefSeq DNA:NT_011109, RefSeq Protein:NP_006376, RefSeq Protein:NP_942152, RefSeq RNA:NM_006385, RefSeq RNA:NM_198855, UCSC Genome Browser:NM_006385, UniProtKB:B9ZVW1, UniProtKB:Q13398 No chr19 58144535 58155409 57633167 57644046 +PA37583 7988 HGNC:13004 ENSG00000170260 zinc finger protein 212 ZNF212 C2H2-150 Yes No Ensembl:ENSG00000170260, GenAtlas:ZNF212, GeneCard:ZNF212, HGNC:HGNC:13004, HumanCyc Gene:HS10089, ModBase:Q9UDV6, NCBI Gene:7988, OMIM:602386, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_036388, RefSeq RNA:NM_012256, UCSC Genome Browser:NM_012256, UniProtKB:Q9UDV6 No chr7 148936741 148952700 149239648 149255609 +PA37584 7760 HGNC:13005 ENSG00000085644 zinc finger protein 213 ZNF213 CR53, ZKSCAN21, ZSCAN53 Yes No Ensembl:ENSG00000085644, GenAtlas:ZNF213, GeneCard:ZNF213, HGNC:HGNC:13005, HumanCyc Gene:HS01501, ModBase:O14771, NCBI Gene:7760, OMIM:608387, RefSeq DNA:NT_010393, RefSeq Protein:NP_001128127, RefSeq Protein:NP_004211, RefSeq RNA:NM_001134655, RefSeq RNA:NM_004220, UCSC Genome Browser:NM_004220, UniProtKB:O14771 No chr16 3185057 3192805 3135056 3142804 +PA37585 7761 HGNC:13006 ENSG00000149050 zinc finger protein 214 ZNF214 Yes No Ensembl:ENSG00000149050, GenAtlas:ZNF214, GeneCard:ZNF214, HGNC:HGNC:13006, HumanCyc Gene:HS07579, ModBase:Q9UL59, NCBI Gene:7761, OMIM:605015, RefSeq DNA:NT_009237, RefSeq Protein:NP_037381, RefSeq RNA:NM_013249, UCSC Genome Browser:NM_013249, UniProtKB:Q9UL59 No chr11 7020549 7041586 6997085 7020367 +PA37586 7762 HGNC:13007 ENSG00000149054 zinc finger protein 215 ZNF215 ZKSCAN11, ZSCAN43 Yes Yes Ensembl:ENSG00000149054, GenAtlas:ZNF215, GeneCard:ZNF215, HGNC:HGNC:13007, HumanCyc Gene:HS07580, ModBase:Q9UL58, NCBI Gene:7762, OMIM:605016, RefSeq DNA:NT_009237, RefSeq Protein:NP_037382, RefSeq RNA:NM_013250, UCSC Genome Browser:NM_013250, UniProtKB:Q9UL58 No chr11 6947654 7009718 6926423 6958047 +PA37588 7764 HGNC:13009 ENSG00000171940 zinc finger protein 217 ZNF217 ZABC1 Yes No Comparative Toxicogenomics Database:7764, Ensembl:ENSG00000171940, GenAtlas:ZNF217, GeneCard:ZNF217, HGNC:HGNC:13009, HumanCyc Gene:HS10417, ModBase:O75362, NCBI Gene:7764, OMIM:602967, RefSeq DNA:NT_011362, RefSeq Protein:NP_006517, RefSeq RNA:NM_006526, UCSC Genome Browser:NM_006526, UniProtKB:O75362 No chr20 52183610 52210801 53567065 53608969 +PA37590 51222 HGNC:13011 ENSG00000165804 zinc finger protein 219 ZNF219 Yes No Comparative Toxicogenomics Database:51222, Ensembl:ENSG00000165804, GenAtlas:ZNF219, GeneCard:ZNF219, HGNC:HGNC:13011, HumanCyc Gene:HS09287, ModBase:Q9P2Y4, NCBI Gene:51222, OMIM:605036, RefSeq DNA:NT_026437, RefSeq Protein:NP_001095142, RefSeq Protein:NP_001095924, RefSeq Protein:NP_057507, RefSeq RNA:NM_001101672, RefSeq RNA:NM_001102454, RefSeq RNA:NM_016423, UCSC Genome Browser:NM_016423, UniProtKB:Q9P2Y4 No chr14 21558205 21572863 21090046 21104704 +PA37591 7570 HGNC:13012 ENSG00000165512 zinc finger protein 22 ZNF22 HKR-T1, KOX15, ZNF422, Zfp422 Yes No Comparative Toxicogenomics Database:7570, Ensembl:ENSG00000165512, GenAtlas:ZNF22, GeneCard:ZNF22, HGNC:HGNC:13012, HumanCyc Gene:HS09243, ModBase:P17026, NCBI Gene:7570, OMIM:194529, RefSeq DNA:NT_033985, RefSeq Protein:NP_008894, RefSeq RNA:NM_006963, UCSC Genome Browser:NM_006963, UniProtKB:P17026, UniProtKB:Q5T741 No chr10 45496273 45500777 45000825 45005329 +PA37593 7638 HGNC:13014 ENSG00000159905 zinc finger protein 221 ZNF221 Yes No Ensembl:ENSG00000159905, GenAtlas:ZNF221, GeneCard:ZNF221, HGNC:HGNC:13014, HumanCyc Gene:HS00390, NCBI Gene:7638, RefSeq DNA:NT_011109, RefSeq Protein:NP_037491, RefSeq RNA:NM_013359, UCSC Genome Browser:NM_013359, UniProtKB:Q9UK13 No chr19 44455375 44471752 43951196 43970207 +PA37594 7673 HGNC:13015 ENSG00000159885 zinc finger protein 222 ZNF222 Yes No Comparative Toxicogenomics Database:7673, Ensembl:ENSG00000159885, GenAtlas:ZNF222, GeneCard:ZNF222, HGNC:HGNC:13015, HumanCyc Gene:HS08428, ModBase:Q9UK12, NCBI Gene:7673, RefSeq DNA:NT_011109, RefSeq Protein:NP_001123468, RefSeq Protein:NP_037492, RefSeq RNA:NM_001129996, RefSeq RNA:NM_013360, UCSC Genome Browser:NM_013360, UniProtKB:Q8N6G7, UniProtKB:Q9UK12 No chr19 44529494 44537263 44025324 44033110 +PA37595 7766 HGNC:13016 ENSG00000178386 zinc finger protein 223 ZNF223 Yes No Ensembl:ENSG00000178386, GenAtlas:ZNF223, GeneCard:ZNF223, HGNC:HGNC:13016, HumanCyc Gene:HS06891, ModBase:Q9UK11, NCBI Gene:7766, RefSeq DNA:NT_011109, RefSeq Protein:NP_037493, RefSeq RNA:NM_013361, UCSC Genome Browser:NM_013361, UniProtKB:Q8TBJ3 No chr19 44556164 44572142 44051372 44069902 +PA37596 7767 HGNC:13017 ENSG00000267680 zinc finger protein 224 ZNF224 BMZF-2, KOX22, ZNF255, ZNF27 Yes No Ensembl:ENSG00000267680, GenAtlas:ZNF224, GeneCard:ZNF224, HGNC:HGNC:13017, ModBase:Q9NZL3, NCBI Gene:7767, OMIM:194555, RefSeq DNA:NT_011109, RefSeq Protein:NP_037530, RefSeq RNA:NM_013398, UCSC Genome Browser:NM_013398, UniProtKB:Q9NZL3 No chr19 44598482 44613997 44094329 44109831 +PA37597 7768 HGNC:13018 ENSG00000159882, ENSG00000256294 zinc finger protein 225 ZNF225 Yes No Ensembl:ENSG00000159882, Ensembl:ENSG00000256294, GenAtlas:ZNF225, GeneCard:ZNF225, HGNC:HGNC:13018, HumanCyc Gene:HS08431, ModBase:Q9UK10, NCBI Gene:7768, RefSeq DNA:NT_011109, RefSeq Protein:NP_037494, RefSeq RNA:NM_013362, UCSC Genome Browser:NM_013362, UniProtKB:Q9UK10 No chr19 44617528 44637255 44111426 44134816 +PA37598 7769 HGNC:13019 ENSG00000167380 zinc finger protein 226 ZNF226 Yes No Ensembl:ENSG00000167380, GenAtlas:ZNF226, GeneCard:ZNF226, HGNC:HGNC:13019, HumanCyc Gene:HS09551, ModBase:Q9NYT6, NCBI Gene:7769, RefSeq DNA:NT_011109, RefSeq Protein:NP_001027544, RefSeq Protein:NP_001027545, RefSeq Protein:NP_001027546, RefSeq Protein:NP_001139692, RefSeq Protein:NP_057003, RefSeq RNA:NM_001032372, RefSeq RNA:NM_001032373, RefSeq RNA:NM_001032374, RefSeq RNA:NM_001146220, RefSeq RNA:NM_015919, UCSC Genome Browser:NM_015919, UniProtKB:B2RBM0, UniProtKB:Q8WWE6, UniProtKB:Q9NYT6 No chr19 44669215 44682534 44165062 44177685 +PA37599 7770 HGNC:13020 ENSG00000131115 zinc finger protein 227 ZNF227 Yes No Ensembl:ENSG00000131115, GenAtlas:ZNF227, GeneCard:ZNF227, HGNC:HGNC:13020, ModBase:Q86WZ6, NCBI Gene:7770, RefSeq DNA:NT_011109, RefSeq Protein:NP_872296, RefSeq RNA:NM_182490, UCSC Genome Browser:NM_182490, UniProtKB:Q86WZ6 No chr19 44716684 44741421 44207527 44237268 +PA37601 7772 HGNC:13022 ENSG00000278318 zinc finger protein 229 ZNF229 Yes No Ensembl:ENSG00000278318, GenAtlas:ZNF229, GeneCard:ZNF229, HGNC:HGNC:13022, HumanCyc Gene:HS09552, NCBI Gene:7772, RefSeq DNA:NT_011109, RefSeq Protein:NP_055333, RefSeq RNA:NM_014518, UniProtKB:Q9UJW7 No chr19 44930423 44952766 44426251 44448578 +PA37602 7571 HGNC:13023 ENSG00000167377 zinc finger protein 23 ZNF23 KOX16, ZNF359, ZNF612, Zfp612 Yes No Ensembl:ENSG00000167377, GenAtlas:ZNF23, GeneCard:ZNF23, HGNC:HGNC:13023, HumanCyc Gene:HS09550, ModBase:P17027, NCBI Gene:7571, OMIM:194527, RefSeq DNA:NT_010498, RefSeq Protein:NP_666016, RefSeq RNA:NM_145911, UCSC Genome Browser:NM_145911, UniProtKB:P17027 No chr16 71481500 71496295 71447597 71462252 +PA37603 7773 HGNC:13024 ENSG00000159882 zinc finger protein 230 ZNF230 FDZF2 Yes No Ensembl:ENSG00000159882, GenAtlas:ZNF230, GeneCard:ZNF230, HGNC:HGNC:13024, ModBase:Q9UIE0, NCBI Gene:7773, RefSeq DNA:NT_011109, RefSeq Protein:NP_006291, RefSeq RNA:NM_006300, UCSC Genome Browser:NM_006300, UniProtKB:Q9UIE0 No chr19 44507077 44518072 44002925 44013920 +PA37604 7775 HGNC:13026 ENSG00000167840 zinc finger protein 232 ZNF232 ZSCAN11 Yes No Ensembl:ENSG00000167840, GenAtlas:ZNF232, GeneCard:ZNF232, HGNC:HGNC:13026, HumanCyc Gene:HS09649, ModBase:Q9UNY5, NCBI Gene:7775, RefSeq DNA:NT_010718, RefSeq Protein:NP_055334, RefSeq RNA:NM_014519, UCSC Genome Browser:NM_014519, UniProtKB:Q9UNY5 No chr17 5009029 5026411 5105734 5123116 +PA134917179 353355 HGNC:30946 ENSG00000159915 zinc finger protein 233 ZNF233 FLJ38032 Yes No Ensembl:ENSG00000159915, GeneCard:ZNF233, HGNC:HGNC:30946, ModBase:A6NK53, NCBI Gene:353355, RefSeq DNA:NT_011109, RefSeq Protein:NP_001193934, RefSeq Protein:NP_861421, RefSeq RNA:NM_001207005, RefSeq RNA:NM_181756, UniProtKB:A6NK53 No chr19 44764033 44779470 44259880 44275317 +PA37605 10780 HGNC:13027 ENSG00000263002 zinc finger protein 234 ZNF234 HZF4, ZNF269 Yes No Ensembl:ENSG00000263002, GenAtlas:ZNF234, GeneCard:ZNF234, HGNC:HGNC:13027, HumanCyc Gene:HS08432, ModBase:Q14588, NCBI Gene:10780, OMIM:604750, RefSeq DNA:NT_011109, RefSeq Protein:NP_001138296, RefSeq Protein:NP_006621, RefSeq RNA:NM_001144824, RefSeq RNA:NM_006630, UCSC Genome Browser:NM_006630, UniProtKB:Q14588 No chr19 44645710 44664462 44141530 44160309 +PA37455 9310 HGNC:12866 ENSG00000159917 zinc finger protein 235 ZNF235 ANF270, HZF6, ZFP93, ZNF270 Yes No Comparative Toxicogenomics Database:9310, Ensembl:ENSG00000159917, GeneCard:ZNF235, HGNC:HGNC:12866, HumanCyc Gene:HS08434, ModBase:Q14590, NCBI Gene:9310, OMIM:604749, RefSeq DNA:NT_011109, RefSeq Protein:NP_004225, RefSeq RNA:NM_004234, UCSC Genome Browser:NM_004234, UniProtKB:Q14590 No chr19 44790501 44809606 44286348 44309093 +PA37606 7776 HGNC:13028 ENSG00000130856 zinc finger protein 236 ZNF236 Yes No Ensembl:ENSG00000130856, GenAtlas:ZNF236, GeneCard:ZNF236, HGNC:HGNC:13028, HumanCyc Gene:HS05456, ModBase:Q9UL36, NCBI Gene:7776, OMIM:604760, RefSeq DNA:NT_025028, RefSeq Protein:NP_031371, RefSeq RNA:NM_007345, UCSC Genome Browser:NM_007345, UniProtKB:Q9UL36 No chr18 74535149 74682688 76822550 76970732 +PA37609 8187 HGNC:13031 ENSG00000196793 zinc finger protein 239 ZNF239 HOK-2, MOK2 Yes No Ensembl:ENSG00000196793, GenAtlas:ZNF239, GeneCard:ZNF239, HGNC:HGNC:13031, HumanCyc Gene:HS10000, ModBase:Q16600, NCBI Gene:8187, OMIM:601069, RefSeq DNA:NT_033985, RefSeq Protein:NP_001092752, RefSeq Protein:NP_001092753, RefSeq Protein:NP_001092754, RefSeq Protein:NP_005665, RefSeq RNA:NM_001099282, RefSeq RNA:NM_001099283, RefSeq RNA:NM_001099284, RefSeq RNA:NM_005674, UCSC Genome Browser:NM_005674, UniProtKB:Q16600 No chr10 44051792 44070066 43554516 43574619 +PA37610 7572 HGNC:13032 ENSG00000172466 zinc finger protein 24 ZNF24 KOX17, ZNF191, ZSCAN3, Zfp191 Yes No Ensembl:ENSG00000172466, GenAtlas:ZNF24, GeneCard:ZNF24, HGNC:HGNC:13032, HumanCyc Gene:HS01184, ModBase:P17028, NCBI Gene:7572, OMIM:194534, RefSeq DNA:NT_010966, RefSeq Protein:NP_008896, RefSeq RNA:NM_006965, UCSC Genome Browser:NM_006965, UniProtKB:P17028 No chr18 32912178 32924428 35332208 35344467 +PA166352314 HGNC:13033 zinc finger protein 240 ZNF240 Yes No HGNC:HGNC:13033 No 0 0 0 0 +PA166352315 HGNC:13034 zinc finger protein 241 ZNF241 Yes No HGNC:HGNC:13034 No 0 0 0 0 +PA166352316 HGNC:13035 zinc finger protein 242 ZNF242 Yes No HGNC:HGNC:13035 No 0 0 0 0 +PA166352317 HGNC:13037 zinc finger protein 244 ZNF244 Yes No HGNC:HGNC:13037 No 0 0 0 0 +PA166352318 HGNC:13038 zinc finger protein 245 ZNF245 Yes No HGNC:HGNC:13038 No 0 0 0 0 +PA166352319 HGNC:13039 zinc finger protein 246 ZNF246 Yes No HGNC:HGNC:13039 No 0 0 0 0 +PA166352320 HGNC:13040 zinc finger protein 247 ZNF247 Yes No HGNC:HGNC:13040 No 0 0 0 0 +PA37619 57209 HGNC:13041 ENSG00000198105 zinc finger protein 248 ZNF248 bA162G10.3 Yes No Ensembl:ENSG00000198105, GenAtlas:ZNF248, GeneCard:ZNF248, HGNC:HGNC:13041, ModBase:Q8NDW4, NCBI Gene:57209, RefSeq DNA:NT_008705, RefSeq Protein:NP_066383, RefSeq RNA:NM_021045, UniProtKB:A2RUI7, UniProtKB:Q8NDW4 No chr10 38065454 38147012 37758452 37858202 +PA166352321 HGNC:13042 zinc finger protein 249 ZNF249 Yes No HGNC:HGNC:13042 No 0 0 0 0 +PA37621 219749 HGNC:13043 ENSG00000175395 zinc finger protein 25 ZNF25 FLJ31890, KOX19, Zfp9 Yes No Ensembl:ENSG00000175395, GenAtlas:ZNF25, GeneCard:ZNF25, HGNC:HGNC:13043, HumanCyc Gene:HS06206, ModBase:P17030, NCBI Gene:219749, OMIM:194528, RefSeq DNA:NT_008705, RefSeq Protein:NP_659448, RefSeq RNA:NM_145011, UCSC Genome Browser:NM_145011, UniProtKB:P17030 No chr10 38238500 38265584 37949573 37976656 +PA37622 58500 HGNC:13044 ENSG00000196150 zinc finger protein 250 ZNF250 MGC9718, ZFP647, ZNF647 Yes No Ensembl:ENSG00000196150, GenAtlas:ZNF250, GeneCard:ZNF250, HGNC:HGNC:13044, ModBase:P15622, NCBI Gene:58500, RefSeq DNA:NT_037704, RefSeq Protein:NP_001103159, RefSeq Protein:NP_066405, RefSeq RNA:NM_001109689, RefSeq RNA:NM_021061, UniProtKB:B3KNS9, UniProtKB:P15622, UniProtKB:Q59HE9 No chr8 146102336 146127453 144876951 144902311 +PA37623 90987 HGNC:13045 ENSG00000198169 zinc finger protein 251 ZNF251 Yes No Ensembl:ENSG00000198169, GenAtlas:ZNF251, GeneCard:ZNF251, HGNC:HGNC:13045, ModBase:Q9BRH9, NCBI Gene:90987, RefSeq DNA:NT_037704, RefSeq Protein:NP_612376, RefSeq RNA:NM_138367, UniProtKB:Q9BRH9 No chr8 145946294 145981285 144720909 144755603 +PA37624 286101 HGNC:13046 ENSG00000196922 zinc finger protein 252, pseudogene ZNF252P Yes No Ensembl:ENSG00000196922, GenAtlas:ZNF252, GeneCard:ZNF252P, HGNC:HGNC:13046, NCBI Gene:286101, RefSeq DNA:NT_037704, RefSeq RNA:NR_023392 No chr8 146198975 146228285 144973589 145002899 +PA142672340 286103 HGNC:27821 ENSG00000255559 ZNF252P antisense RNA 1 ZNF252P-AS1 Yes No Ensembl:ENSG00000255559, GeneCard:C8orf77, HGNC:HGNC:27821, NCBI Gene:286103, RefSeq DNA:NT_037704, RefSeq RNA:NR_026974 No chr8 146228197 146231432 145002811 145006046 +PA37785 56242 HGNC:13497 ENSG00000256771 zinc finger protein 253 ZNF253 BMZF-1, FLJ90391, ZNF411 Yes No Ensembl:ENSG00000256771, GenAtlas:ZNF253, GeneCard:ZNF253, HGNC:HGNC:13497, HumanCyc Gene:HS09844, ModBase:O75346, NCBI Gene:56242, OMIM:606954, RefSeq DNA:NT_011295, RefSeq Protein:NP_066385, RefSeq RNA:NM_021047, UCSC Genome Browser:NM_021047, UniProtKB:O75346 No chr19 19976639 20005099 19865905 19893484 +PA37625 9534 HGNC:13047 ENSG00000213096 zinc finger protein 254 ZNF254 BMZF-5, HD-ZNF1, ZNF539, ZNF91L Yes No Ensembl:ENSG00000213096, GenAtlas:ZNF254, GeneCard:ZNF254, HGNC:HGNC:13047, ModBase:O75437, NCBI Gene:9534, OMIM:604768, RefSeq DNA:NT_011295, RefSeq Protein:NP_975011, RefSeq RNA:NM_203282, UCSC Genome Browser:NM_004876, UniProtKB:O75437 No chr19 24014991 24312770 24033405 24129968 +PA37627 10172 HGNC:13049 ENSG00000152454 zinc finger protein 256 ZNF256 BMZF-3 Yes No Ensembl:ENSG00000152454, GenAtlas:ZNF256, GeneCard:ZNF256, HGNC:HGNC:13049, HumanCyc Gene:HS07819, ModBase:Q9Y2P7, NCBI Gene:10172, OMIM:606956, RefSeq DNA:NT_011109, RefSeq Protein:NP_005764, RefSeq RNA:NM_005773, UCSC Genome Browser:NM_005773, UniProtKB:Q9Y2P7 No chr19 58452201 58459077 57940833 57947733 +PA37786 113835 HGNC:13498 ENSG00000197134 zinc finger protein 257 ZNF257 BMZF-4 Yes No Comparative Toxicogenomics Database:113835, Ensembl:ENSG00000197134, GenAtlas:ZNF257, GeneCard:ZNF257, HGNC:HGNC:13498, ModBase:Q9Y2Q1, NCBI Gene:113835, OMIM:606957, RefSeq DNA:NT_011295, RefSeq Protein:NP_258429, RefSeq RNA:NM_033468, UCSC Genome Browser:NM_033468, UniProtKB:B3KPS4, UniProtKB:Q8NE34, UniProtKB:Q9Y2Q1 No chr19 22235126 22274276 22052448 22091103 +PA37631 7574 HGNC:13053 ENSG00000198393 zinc finger protein 26 ZNF26 FLJ20755, KOX20 Yes No Ensembl:ENSG00000198393, GenAtlas:ZNF26, GeneCard:ZNF26, HGNC:HGNC:13053, ModBase:P17031, NCBI Gene:7574, OMIM:194537, RefSeq DNA:NT_024477, RefSeq Protein:NP_062537, RefSeq RNA:NM_019591, UCSC Genome Browser:NM_019591, UniProtKB:P17031 No chr12 133562934 133589154 132986348 133027102 +PA145147548 339324 HGNC:13499 ENSG00000254004 zinc finger protein 260 ZNF260 Zfp260, ozrf1 Yes No Ensembl:ENSG00000254004, GeneCard:ZNF260, HGNC:HGNC:13499, ModBase:Q3ZCT1, NCBI Gene:339324, RefSeq DNA:NT_011109, RefSeq Protein:NP_001012774, RefSeq Protein:NP_001159508, RefSeq Protein:NP_001159509, RefSeq Protein:NP_001159510, RefSeq RNA:NM_001012756, RefSeq RNA:NM_001166036, RefSeq RNA:NM_001166037, RefSeq RNA:NM_001166038, UniProtKB:Q3ZCT1 No chr19 37001589 37019248 36510687 36528488 +PA37634 10127 HGNC:13056 ENSG00000006194 zinc finger protein 263 ZNF263 FPM315, ZKSCAN12, ZSCAN44 Yes No Ensembl:ENSG00000006194, GenAtlas:ZNF263, GeneCard:ZNF263, HGNC:HGNC:13056, HumanCyc Gene:HS00171, ModBase:O14978, NCBI Gene:10127, OMIM:604191, RefSeq DNA:NT_010393, RefSeq Protein:NP_005732, RefSeq RNA:NM_005741, UCSC Genome Browser:NM_005741, UniProtKB:O14978 No chr16 3333380 3351401 3283183 3301401 +PA37635 9422 HGNC:13057 ENSG00000083844 zinc finger protein 264 ZNF264 KIAA0412 Yes No Comparative Toxicogenomics Database:9422, Ensembl:ENSG00000083844, GenAtlas:ZNF264, GeneCard:ZNF264, HGNC:HGNC:13057, HumanCyc Gene:HS01458, ModBase:O43296, NCBI Gene:9422, OMIM:604668, RefSeq DNA:NG_016432, RefSeq DNA:NT_011109, RefSeq Protein:NP_003408, RefSeq RNA:NM_003417, UCSC Genome Browser:NM_003417, UniProtKB:O43296 No chr19 57702868 57734214 57191500 57222846 +PA37637 10781 HGNC:13059 ENSG00000174652 zinc finger protein 266 ZNF266 HZF1 Yes No Ensembl:ENSG00000174652, GenAtlas:ZNF266, GeneCard:ZNF266, HGNC:HGNC:13059, HumanCyc Gene:HS10815, ModBase:Q14584, NCBI Gene:10781, OMIM:604751, RefSeq DNA:NT_011295, RefSeq Protein:NP_006622, RefSeq Protein:NP_932175, RefSeq RNA:NM_006631, RefSeq RNA:NM_198058, UCSC Genome Browser:NM_006631, UniProtKB:Q14584 No chr19 9523102 9546254 9412426 9435578 +PA37638 10308 HGNC:13060 ENSG00000185947 zinc finger protein 267 ZNF267 HZF2 Yes No Comparative Toxicogenomics Database:10308, Ensembl:ENSG00000185947, GenAtlas:ZNF267, GeneCard:ZNF267, HGNC:HGNC:13060, ModBase:Q14586, NCBI Gene:10308, OMIM:604752, RefSeq DNA:NT_010393, RefSeq Protein:NP_003405, RefSeq RNA:NM_003414, UCSC Genome Browser:NM_003414, UniProtKB:A0JNZ9, UniProtKB:Q14586 No chr16 31885079 31928629 31873758 31917951 +PA37639 10795 HGNC:13061 ENSG00000090612 zinc finger protein 268 ZNF268 HZF3 Yes No Comparative Toxicogenomics Database:10795, Ensembl:ENSG00000090612, GenAtlas:ZNF268, GeneCard:ZNF268, HGNC:HGNC:13061, HumanCyc Gene:HS07784, ModBase:Q14587, NCBI Gene:10795, OMIM:604753, RefSeq DNA:NT_024477, RefSeq Protein:NP_001159353, RefSeq Protein:NP_001159354, RefSeq Protein:NP_001159355, RefSeq Protein:NP_001159356, RefSeq Protein:NP_001159357, RefSeq Protein:NP_001159358, RefSeq Protein:NP_001159359, RefSeq Protein:NP_003406, RefSeq Protein:NP_694422, RefSeq RNA:NM_001165881, RefSeq RNA:NM_001165882, RefSeq RNA:NM_001165883, RefSeq RNA:NM_001165884, RefSeq RNA:NM_001165885, RefSeq RNA:NM_001165886, RefSeq RNA:NM_001165887, RefSeq RNA:NM_003415, RefSeq RNA:NM_152943, UCSC Genome Browser:NM_003415, UniProtKB:Q14587 No chr12 133757995 133783698 133181409 133207112 +PA37643 10793 HGNC:13067 ENSG00000198039 zinc finger protein 273 ZNF273 HZF9 Yes No Ensembl:ENSG00000198039, GenAtlas:ZNF273, GeneCard:ZNF273, HGNC:HGNC:13067, ModBase:Q14593, NCBI Gene:10793, OMIM:604756, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_066971, RefSeq RNA:NM_021148, RefSeq RNA:NR_003099, UniProtKB:Q14593 No chr7 64363620 64391955 64882493 64937316 +PA37644 10782 HGNC:13068 ENSG00000171606 zinc finger protein 274 ZNF274 ZKSCAN19, ZSCAN51 Yes No Ensembl:ENSG00000171606, GenAtlas:ZNF274, GeneCard:ZNF274, HGNC:HGNC:13068, HumanCyc Gene:HS10352, ModBase:Q96GC6, NCBI Gene:10782, OMIM:605467, RefSeq DNA:NT_011109, RefSeq Protein:NP_057408, RefSeq Protein:NP_057409, RefSeq Protein:NP_598009, RefSeq RNA:NM_016324, RefSeq RNA:NM_016325, RefSeq RNA:NM_133502, UCSC Genome Browser:NM_016324, UniProtKB:Q96GC6 No chr19 58694356 58724928 58182989 58213562 +PA37645 10838 HGNC:13069 ENSG00000063587 zinc finger protein 275 ZNF275 Yes No Ensembl:ENSG00000063587, GenAtlas:ZNF275, GeneCard:ZNF275, HGNC:HGNC:13069, HumanCyc Gene:HS00784, ModBase:Q9NSD4, NCBI Gene:10838, RefSeq DNA:NG_021432, RefSeq DNA:NT_167198, RefSeq Protein:NP_001073954, RefSeq RNA:NM_001080485, UCSC Genome Browser:NM_020636, UniProtKB:A6NE10 No chrX 152599613 152618384 153334155 153352926 +PA134935042 92822 HGNC:23330 ENSG00000158805 zinc finger protein 276 ZNF276 """centromere protein Z"", ""zinc finger, AD-type""" CENP-Z, CENPZ, MGC45417, ZADT, ZFP276, ZNF477 Yes No Ensembl:ENSG00000158805, GeneCard:ZNF276, HGNC:HGNC:23330, HumanCyc Gene:HS14734, NCBI Gene:92822, OMIM:608460, RefSeq DNA:NT_010542, RefSeq Protein:NP_001106997, RefSeq Protein:NP_689500, RefSeq RNA:NM_001113525, RefSeq RNA:NM_152287, UniProtKB:Q8N554 No chr16 89786393 89807333 89720368 89740925 +PA37646 11179 HGNC:13070 ENSG00000198839 zinc finger protein 277 ZNF277 NRIF4, ZNF277P Yes No Ensembl:ENSG00000198839, GenAtlas:ZNF277, GeneCard:ZNF277, HGNC:HGNC:13070, ModBase:Q9NRM2, NCBI Gene:11179, OMIM:605465, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_068834, RefSeq RNA:NM_021994, UCSC Genome Browser:NM_021994, UniProtKB:Q9NRM2 No chr7 111846643 111983989 112206588 112343934 +PA37649 7576 HGNC:13073 ENSG00000198538 zinc finger protein 28 ZNF28 DKFZp781D0275, KOX24 Yes No Ensembl:ENSG00000198538, GenAtlas:ZNF28, GeneCard:ZNF28, HGNC:HGNC:13073, HumanCyc Gene:HS06921, NCBI Gene:7576, RefSeq DNA:NT_011109, RefSeq Protein:NP_008900, RefSeq RNA:NM_001369761, RefSeq RNA:NM_001369762, RefSeq RNA:NM_006969, UniProtKB:B9EIK7, UniProtKB:Q6NSH2 No chr19 53300661 53324922 52797408 52821686 +PA38358 129025 HGNC:18597 ENSG00000169548 zinc finger protein 280A ZNF280A 3'OY11.1, SUHW1, ZNF280, ZNF636 Yes No Ensembl:ENSG00000169548, GenAtlas:SUHW1, GeneCard:SUHW1, GeneCard:ZNF280A, HGNC:HGNC:18597, HumanCyc Gene:HS15782, NCBI Gene:129025, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520, RefSeq Protein:NP_542778, RefSeq RNA:NM_080740, UCSC Genome Browser:NM_080740, UniProtKB:B3KS93, UniProtKB:P59817 No chr22 22868060 22874613 22513736 22520281 +PA162409948 140883 HGNC:23022 ENSG00000275004 zinc finger protein 280B ZNF280B 5'OY11.1, SUHW2, ZNF279, ZNF632 Yes No Ensembl:ENSG00000275004, GeneCard:ZNF280B, HGNC:HGNC:23022, NCBI Gene:140883, RefSeq DNA:NG_000002, RefSeq DNA:NT_011520, RefSeq Protein:NP_542942, RefSeq RNA:NM_080764, UniProtKB:B3KUN2, UniProtKB:Q86YH2 No chr22 22838767 22863505 22484421 22509187 +PA162409961 55609 HGNC:25955 ENSG00000056277 zinc finger protein 280C ZNF280C zinc finger protein proximal to RAD eighteen FLJ20095, SUHW3, ZNF633, ZPET Yes No Ensembl:ENSG00000056277, GeneCard:ZNF280C, HGNC:HGNC:25955, HumanCyc Gene:HS00692, ModBase:Q8ND82, NCBI Gene:55609, RefSeq DNA:NG_021388, RefSeq DNA:NT_011786, RefSeq Protein:NP_060136, RefSeq RNA:NM_017666, UniProtKB:Q8ND82 No chrX 129336673 129402922 130202699 130268948 +PA162410004 54816 HGNC:25953 ENSG00000137871 zinc finger protein 280D ZNF280D FLJ20086, SUHW4, ZNF634 Yes No Ensembl:ENSG00000137871, GeneCard:ZNF280D, HGNC:HGNC:25953, HumanCyc Gene:HS13702, NCBI Gene:54816, RefSeq DNA:NT_010194, RefSeq Protein:NP_001002843, RefSeq Protein:NP_001002844, RefSeq Protein:NP_060131, RefSeq RNA:NM_001002843, RefSeq RNA:NM_001002844, RefSeq RNA:NM_017661, UniProtKB:Q6N043 No chr15 56922374 57026279 56630176 56734086 +PA37651 23528 HGNC:13075 ENSG00000162702 zinc finger protein 281 ZNF281 ZBP-99 Yes No Ensembl:ENSG00000162702, GenAtlas:ZNF281, GeneCard:ZNF281, HGNC:HGNC:13075, HumanCyc Gene:HS08721, ModBase:Q9Y2X9, NCBI Gene:23528, RefSeq DNA:NT_004487, RefSeq Protein:NP_036614, RefSeq RNA:NM_012482, UCSC Genome Browser:NM_012482, UniProtKB:Q9Y2X9 No chr1 200374075 200379186 200404947 200483604 +PA37652 8427 HGNC:13076 ENSG00000170265 zinc finger protein 282 ZNF282 HUB1 Yes No Ensembl:ENSG00000170265, GenAtlas:ZNF282, GeneCard:ZNF282, HGNC:HGNC:13076, HumanCyc Gene:HS08063, ModBase:Q9UDV7, NCBI Gene:8427, OMIM:603397, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_003566, RefSeq RNA:NM_003575, UCSC Genome Browser:NM_003575, UniProtKB:Q9UDV7 No chr7 148892560 148923339 149195462 149226248 +PA37653 284349 HGNC:13077 ENSG00000167637 zinc finger protein 283 ZNF283 Yes No Ensembl:ENSG00000167637, GenAtlas:ZNF283, GeneCard:ZNF283, HGNC:HGNC:13077, NCBI Gene:284349, RefSeq DNA:NT_011109, RefSeq Protein:NP_862828, RefSeq RNA:NM_181845, UniProtKB:Q8N7M2 No chr19 44331445 44353050 43827292 43853286 +PA37654 342909 HGNC:13078 ENSG00000186026 zinc finger protein 284 ZNF284 DKFZp781F1775 Yes No Ensembl:ENSG00000186026, GenAtlas:ZNF284, GeneCard:ZNF284, HGNC:HGNC:13078, ModBase:Q2VY69, NCBI Gene:342909, RefSeq DNA:NT_011109, RefSeq Protein:NP_001032902, RefSeq RNA:NM_001037813, UniProtKB:Q2VY69 No chr19 44576297 44591623 44072137 44089613 +PA165394833 26974 HGNC:13079 ENSG00000267508 zinc finger protein 285 ZNF285 ZNF285A Yes No Ensembl:ENSG00000267508, GeneCard:ZNF285, HGNC:HGNC:13079, ModBase:Q96NJ3, NCBI Gene:26974, RefSeq DNA:NT_011109, RefSeq DNA:NT_011109.15, RefSeq Protein:NP_689567, RefSeq RNA:NM_152354, RefSeq RNA:NM_152354.3, UniProtKB:Q96NJ3 No chr19 44889808 44905777 44385646 44401611 +PA162410066 57335 HGNC:13501 ENSG00000187607 zinc finger protein 286A ZNF286A KIAA1874, ZNF286 Yes No Ensembl:ENSG00000187607, GeneCard:ZNF286A, HGNC:HGNC:13501, ModBase:Q9HBT8, NCBI Gene:57335, RefSeq DNA:NT_010718, RefSeq Protein:NP_001124314, RefSeq Protein:NP_065703, RefSeq RNA:NM_001130842, RefSeq RNA:NM_020652, UniProtKB:B2RCD9, UniProtKB:Q9HBT8 No chr17 15602891 15624101 15699577 15720787 +PA162410081 729288 HGNC:33241 ENSG00000249459 zinc finger protein 286B ZNF286B zinc finger protein 590 ZNF286C, ZNF286L, ZNF590 Yes No Ensembl:ENSG00000249459, GeneCard:ZNF286B, HGNC:HGNC:33241, NCBI Gene:729288, RefSeq DNA:NT_010718, RefSeq Protein:NP_001138517, RefSeq RNA:NM_001145045, UniProtKB:P0CG31 No chr17 18561742 18585572 18658429 18682259 +PA37788 57336 HGNC:13502 ENSG00000141040 zinc finger protein 287 ZNF287 ZKSCAN13, ZSCAN45 Yes No Ensembl:ENSG00000141040, GenAtlas:ZNF287, GeneCard:ZNF287, HGNC:HGNC:13502, HumanCyc Gene:HS06794, ModBase:Q9HBT7, NCBI Gene:57336, RefSeq DNA:NT_010718, RefSeq Protein:NP_065704, RefSeq RNA:NM_020653, UCSC Genome Browser:NM_020653, UniProtKB:Q6PEZ3, UniProtKB:Q9HBT7 No chr17 16453626 16472520 16546689 16569211 +PA134945416 23036 HGNC:18410 ENSG00000188994 zinc finger protein 292 ZNF292 KIAA0530, ZFP292, Zn-15, Zn-16, bA393I2.3 Yes No Ensembl:ENSG00000188994, GeneCard:ZNF292, HGNC:HGNC:18410, ModBase:O60281, NCBI Gene:23036, RefSeq DNA:NT_007299, RefSeq Protein:NP_055836, RefSeq RNA:NM_015021, UniProtKB:O60281, UniProtKB:Q3LIB3, UniProtKB:Q6P495, UniProtKB:Q6ZS01, UniProtKB:Q6ZW83 No chr6 87865269 87973926 87155551 87264172 +PA134985227 150142 HGNC:23130 ENSG00000237232 ZNF295 antisense RNA 1 ZNF295-AS1 PRED87 Yes No Ensembl:ENSG00000237232, GeneCard:C21orf121, HGNC:HGNC:23130, NCBI Gene:150142, RefSeq DNA:NT_011515, RefSeq RNA:NR_027273 No chr21 43442113 43445060 42009194 42024920 +PA37660 162979 HGNC:15981 ENSG00000170684 zinc finger protein 296 ZNF296 ZNF342 Yes No Ensembl:ENSG00000170684, GenAtlas:ZNF296, GeneCard:ZNF296, HGNC:HGNC:15981, HumanCyc Gene:HS10166, ModBase:Q8WUU4, NCBI Gene:162979, OMIM:613226, RefSeq DNA:NT_011109, RefSeq Protein:NP_660331, RefSeq RNA:NM_145288, UniProtKB:Q8WUU4 No chr19 45574758 45579688 45071500 45076430 +PA37663 54012 HGNC:13088 ENSG00000219368 zinc finger protein 299, pseudogene ZNF299P ZNF299 Yes No Ensembl:ENSG00000219368, GenAtlas:ZNF299P, GeneCard:ZNF299P, HGNC:HGNC:13088, NCBI Gene:54012, RefSeq DNA:NG_000898, RefSeq DNA:NT_011512 No chr21 24462793 24464066 23090471 23091744 +PA37664 7551 HGNC:13089 ENSG00000166526 zinc finger protein 3 ZNF3 A8-51, FLJ20216, HF.12, KOX25, PP838, Zfp113 Yes No Ensembl:ENSG00000166526, GenAtlas:ZNF3, GeneCard:ZNF3, HGNC:HGNC:13089, HumanCyc Gene:HS09414, ModBase:P17036, NCBI Gene:7551, OMIM:194510, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_060185, RefSeq Protein:NP_116313, RefSeq RNA:NM_017715, RefSeq RNA:NM_032924, UCSC Genome Browser:NM_017715, UniProtKB:P17036, UniProtKB:Q9HBR4 No chr7 99661470 99680171 100063847 100082548 +PA37665 90075 HGNC:13090 ENSG00000168661 zinc finger protein 30 ZNF30 DKFZp686N19164, FLJ20562, KOX28 Yes No Ensembl:ENSG00000168661, GenAtlas:ZNF30, GeneCard:ZNF30, HGNC:HGNC:13090, NCBI Gene:90075, RefSeq DNA:NT_011109, RefSeq Protein:NP_001092907, RefSeq Protein:NP_001092908, RefSeq Protein:NP_919306, RefSeq RNA:NM_001099437, RefSeq RNA:NM_001099438, RefSeq RNA:NM_194325, RefSeq RNA:NR_024018, UniProtKB:A5PLP1 No chr19 35417807 35436076 34923795 34945172 +PA37666 91975 HGNC:13091 ENSG00000145908 zinc finger protein 300 ZNF300 Yes No Ensembl:ENSG00000145908, GenAtlas:ZNF300, GeneCard:ZNF300, HGNC:HGNC:13091, HumanCyc Gene:HS07301, ModBase:Q96RE9, NCBI Gene:91975, OMIM:612429, RefSeq DNA:NG_016866, RefSeq DNA:NT_029289, RefSeq Protein:NP_001166302, RefSeq Protein:NP_001166303, RefSeq Protein:NP_443092, RefSeq RNA:NM_001172831, RefSeq RNA:NM_001172832, RefSeq RNA:NM_052860, UniProtKB:Q96RE9 No chr5 150273954 150284545 150892958 150904983 +PA166352322 HGNC:13092 zinc finger protein 301 ZNF301 ZF21-3 Yes No HGNC:HGNC:13092 No 0 0 0 0 +PA37820 55900 HGNC:13848 ENSG00000089335 zinc finger protein 302 ZNF302 ZNF135L, ZNF140L, ZNF327 Yes No Ensembl:ENSG00000089335, GenAtlas:ZNF302, GeneCard:ZNF302, HGNC:HGNC:13848, HumanCyc Gene:HS01651, ModBase:Q9NR11, NCBI Gene:55900, RefSeq DNA:NT_011109, RefSeq Protein:NP_001012320, RefSeq Protein:NP_060913, RefSeq RNA:NM_001012320, RefSeq RNA:NM_018443, UCSC Genome Browser:NM_018443, UniProtKB:Q9NR11 No chr19 35168553 35177302 34677619 34686397 +PA37791 57343 HGNC:13505 ENSG00000131845 zinc finger protein 304 ZNF304 Yes No Ensembl:ENSG00000131845, GenAtlas:ZNF304, GeneCard:ZNF304, HGNC:HGNC:13505, HumanCyc Gene:HS05576, ModBase:Q9HCX3, NCBI Gene:57343, RefSeq DNA:NT_011109, RefSeq Protein:NP_065708, RefSeq RNA:NM_020657, UCSC Genome Browser:NM_020657, UniProtKB:Q2T9G7, UniProtKB:Q9HCX3 No chr19 57862645 57871266 57351253 57359898 +PA134865305 282890 HGNC:13847 ENSG00000169260, ENSG00000197935, ENSG00000223687, ENSG00000225351, ENSG00000235178, ENSG00000235589 zinc finger protein 311 ZNF311 Yes No Ensembl:ENSG00000169260, Ensembl:ENSG00000197935, Ensembl:ENSG00000223687, Ensembl:ENSG00000225351, Ensembl:ENSG00000235178, Ensembl:ENSG00000235589, GeneCard:ZNF311, HGNC:HGNC:13847, ModBase:Q5JNZ3, NCBI Gene:282890, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq Protein:NP_001010877, RefSeq RNA:NM_001010877, UniProtKB:B0S7Y4, UniProtKB:Q5JNZ3 No chr6 28962562 28973037 28994785 29005668 +PA134915147 100131017 HGNC:13843 ENSG00000205903 zinc finger protein 316 ZNF316 ENST00000305834, MZF-3 Yes No Ensembl:ENSG00000205903, GeneCard:ZNF316, HGNC:HGNC:13843, ModBase:A6NFI3, NCBI Gene:100131017, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq RNA:XR_078353, RefSeq RNA:XR_078693, RefSeq RNA:XR_079205 No chr7 6676953 6697910 6637322 6658279 +PA37793 57693 HGNC:13507 ENSG00000130803 zinc finger protein 317 ZNF317 Yes No Ensembl:ENSG00000130803, GenAtlas:ZNF317, GeneCard:ZNF317, HGNC:HGNC:13507, HumanCyc Gene:HS05445, ModBase:Q96PQ6, NCBI Gene:57693, RefSeq DNA:NT_011295, RefSeq Protein:NP_001177720, RefSeq Protein:NP_065984, RefSeq RNA:NM_001190791, RefSeq RNA:NM_020933, UCSC Genome Browser:NM_020933, UniProtKB:Q96PQ6 No chr19 9251056 9274091 9140380 9163419 +PA142670522 100288659 HGNC:31062 ENSG00000253781 zinc finger protein 317 pseudogene 1 ZNF317P1 Yes No Ensembl:ENSG00000253781, GeneCard:ZNF317P1, HGNC:HGNC:31062, NCBI Gene:100288659 No chr8 94658294 94659322 93646066 93647094 +PA134923137 24149 HGNC:13578 ENSG00000171467 zinc finger protein 318 ZNF318 HRIHFB2436, ZFP318 Yes No Ensembl:ENSG00000171467, GeneCard:ZNF318, HGNC:HGNC:13578, HumanCyc Gene:HS10313, ModBase:Q5VUA4, NCBI Gene:24149, RefSeq DNA:NT_007592, RefSeq Protein:NP_055160, RefSeq RNA:NM_014345, UniProtKB:Q5VUA4 No chr6 43303808 43337181 43327489 43369676 +PA134937483 57567 HGNC:13644 ENSG00000166188 zinc finger protein 319 ZNF319 KIAA1388, Zfp319 Yes No Ensembl:ENSG00000166188, GeneCard:ZNF319, HGNC:HGNC:13644, HumanCyc Gene:HS09351, ModBase:Q9P2F9, NCBI Gene:57567, RefSeq DNA:NT_010498, RefSeq Protein:NP_065858, RefSeq RNA:NM_020807, UniProtKB:Q9P2F9 No chr16 58028572 58034551 57994668 58000691 +PA37670 7580 HGNC:13095 ENSG00000169740 zinc finger protein 32 ZNF32 KOX30, ZNF637, Zfp637 Yes No Comparative Toxicogenomics Database:7580, Ensembl:ENSG00000169740, GenAtlas:ZNF32, GeneCard:ZNF32, HGNC:HGNC:13095, HumanCyc Gene:HS16479, ModBase:P17041, NCBI Gene:7580, OMIM:194539, RefSeq DNA:NT_033985, RefSeq Protein:NP_001005368, RefSeq Protein:NP_008904, RefSeq RNA:NM_001005368, RefSeq RNA:NM_006973, UCSC Genome Browser:NM_006973, UniProtKB:P17041 No chr10 44139307 44144326 43643859 43649350 +PA37819 162967 HGNC:13842 ENSG00000182986 zinc finger protein 320 ZNF320 DKFZp686G16228, ZFPL Yes No Ensembl:ENSG00000182986, GenAtlas:ZNF320, GeneCard:ZNF320, HGNC:HGNC:13842, ModBase:A2RRD8, NCBI Gene:162967, OMIM:606427, RefSeq DNA:NT_011109, RefSeq Protein:NP_997216, RefSeq RNA:NM_207333, UniProtKB:A2RRD8, UniProtKB:Q6ZP55 No chr19 53379425 53394599 52863790 52897695 +PA37816 399669 HGNC:13827 ENSG00000213801 zinc finger protein 321, pseudogene ZNF321P MGC35402 Yes No Ensembl:ENSG00000213801, GenAtlas:ZNF321, GeneCard:ZNF321, GeneCard:ZNF321P, HGNC:HGNC:13827, ModBase:Q8N8H1, NCBI Gene:399669, RefSeq DNA:NT_011109, RefSeq Protein:NP_976052, RefSeq RNA:NM_203307, RefSeq RNA:NR_037805, UniProtKB:Q8N8H1 No chr19 53430388 53445847 52927135 52942594 +PA134861342 79692 HGNC:23640 ENSG00000181315 zinc finger protein 322 ZNF322 HCG12, ZNF322A, ZNF388, ZNF489, bA457M11.2, bA457M11.3 Yes No Ensembl:ENSG00000181315, GeneCard:ZNF322A, HGNC:HGNC:23640, HumanCyc Gene:HS17655, ModBase:Q6U7Q0, NCBI Gene:79692, OMIM:610847, RefSeq DNA:NT_007592, RefSeq Protein:NP_001229726, RefSeq Protein:NP_001229727, RefSeq Protein:NP_001229728, RefSeq Protein:NP_078915, RefSeq RNA:NM_001242797, RefSeq RNA:NM_001242798, RefSeq RNA:NM_001242799, RefSeq RNA:NM_024639, UniProtKB:Q6U7Q0 No chr6 26634611 26659980 26634383 26659752 +PA37831 387328 HGNC:14003 ENSG00000188801 zinc finger protein 322 pseudogene 1 ZNF322P1 Yes No Ensembl:ENSG00000188801, GenAtlas:ZNF322B, GeneCard:ZNF322P1, HGNC:HGNC:14003, ModBase:Q5SYY0, NCBI Gene:387328, RefSeq DNA:NT_008470, RefSeq Protein:NP_945356, RefSeq Protein:XP_003403494, RefSeq RNA:NM_199005, RefSeq RNA:XM_003403446, UniProtKB:Q5SYY0 No chr9 99957633 99962427 97195351 97200145 +PA37839 25799 HGNC:14096 ENSG00000083812 zinc finger protein 324 ZNF324 ZF5128, ZNF324A Yes No Ensembl:ENSG00000083812, GenAtlas:ZNF324, GeneCard:ZNF324, HGNC:HGNC:14096, HumanCyc Gene:HS01452, ModBase:O75467, NCBI Gene:25799, RefSeq DNA:NT_011109, RefSeq Protein:NP_055162, RefSeq RNA:NM_014347, UniProtKB:O75467 No chr19 58978412 58984945 58467045 58473578 +PA162410082 388569 HGNC:33107 ENSG00000249471 zinc finger protein 324B ZNF324B FLJ45850 Yes No Ensembl:ENSG00000249471, GeneCard:ZNF324B, HGNC:HGNC:33107, ModBase:Q6AW86, NCBI Gene:388569, RefSeq DNA:NT_011109, RefSeq Protein:NP_997278, RefSeq RNA:NM_207395, UniProtKB:Q6AW86 No chr19 58962971 58969199 58451604 58457833 +PA37842 284695 HGNC:14104 ENSG00000162664 zinc finger protein 326 ZNF326 ZNF-protein interacting with nuclear mRNPs and DBC1 FLJ20403, ZAN75, ZIRD, Zfp326 Yes No Ensembl:ENSG00000162664, GenAtlas:ZNF326, GeneCard:ZNF326, HGNC:HGNC:14104, ModBase:Q5BKZ1, NCBI Gene:284695, RefSeq DNA:NT_032977, RefSeq Protein:NP_892020, RefSeq Protein:NP_892021, RefSeq RNA:NM_182975, RefSeq RNA:NM_182976, UniProtKB:Q5BKZ1 No chr1 90460678 90494101 89995095 90035531 +PA37858 79673 HGNC:14209 ENSG00000181894 zinc finger protein 329 ZNF329 FLJ12586 Yes No Ensembl:ENSG00000181894, GenAtlas:ZNF329, GeneCard:ZNF329, HGNC:HGNC:14209, HumanCyc Gene:HS11679, ModBase:Q86UD4, NCBI Gene:79673, RefSeq DNA:NT_011109, RefSeq Protein:NP_078896, RefSeq RNA:NM_024620, UniProtKB:Q86UD4 No chr19 58637695 58666477 58126328 58155169 +PA134925957 414197 HGNC:23577 ENSG00000226245 ZNF32 antisense RNA 1 ZNF32-AS1 bA402L1.8 Yes No Ensembl:ENSG00000226245, GeneCard:ZNF32OS1, HGNC:HGNC:23577, NCBI Gene:414197 No chr10 44139320 44140495 43643872 43645047 +PA134893790 414208 HGNC:23593 ENSG00000230565 ZNF32 antisense RNA 2 ZNF32-AS2 b402L1.7 Yes No Ensembl:ENSG00000230565, GeneCard:ZNF32OS2, HGNC:HGNC:23593, NCBI Gene:414208 No chr10 44141390 44143467 43645942 43648019 +PA134861677 414201 HGNC:23583 ENSG00000223910 ZNF32 antisense RNA 3 ZNF32-AS3 bA402L1.3 Yes No Ensembl:ENSG00000223910, GeneCard:C10orf44, HGNC:HGNC:23583, NCBI Gene:414201, RefSeq RNA:NR_038867 No chr10 44124265 44170147 43628817 43674699 +PA134925405 27309 HGNC:15462 ENSG00000109445 zinc finger protein 330 ZNF330 HSA6591, NOA36 Yes No Ensembl:ENSG00000109445, GeneCard:ZNF330, HGNC:HGNC:15462, HumanCyc Gene:HS03226, ModBase:Q9Y3S2, NCBI Gene:27309, OMIM:609550, RefSeq DNA:NT_016354, RefSeq Protein:NP_055302, RefSeq RNA:NM_014487, UniProtKB:Q9Y3S2 No chr4 142142049 142155851 141220294 141234697 +PA134866703 55422 HGNC:15489 ENSG00000130844 zinc finger protein 331 ZNF331 rearranged in thyroid adenomas RITA, ZNF361, ZNF463 Yes No Comparative Toxicogenomics Database:55422, Ensembl:ENSG00000130844, GeneCard:ZNF331, HGNC:HGNC:15489, HumanCyc Gene:HS05455, ModBase:Q9NQX6, NCBI Gene:55422, OMIM:606043, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073375, RefSeq Protein:NP_001073376, RefSeq Protein:NP_061025, RefSeq RNA:NM_001079906, RefSeq RNA:NM_001079907, RefSeq RNA:NM_018555, UniProtKB:Q68D63, UniProtKB:Q71QC5, UniProtKB:Q71QC6, UniProtKB:Q9NQX6 No chr19 54024177 54083523 53503819 53580269 +PA134929553 84449 HGNC:15624 ENSG00000160961 zinc finger protein 333 ZNF333 KIAA1806 Yes No Ensembl:ENSG00000160961, GeneCard:ZNF333, HGNC:HGNC:15624, HumanCyc Gene:HS08557, ModBase:Q96JL9, NCBI Gene:84449, OMIM:611811, RefSeq DNA:NT_011295, RefSeq Protein:NP_115809, RefSeq RNA:NM_032433, UniProtKB:Q6P2E6, UniProtKB:Q96JL9 No chr19 14800711 14844558 14689787 14733746 +PA38040 55713 HGNC:15806 ENSG00000198185 zinc finger protein 334 ZNF334 bA179N14.1 Yes No Comparative Toxicogenomics Database:55713, Ensembl:ENSG00000198185, GenAtlas:ZNF334, GeneCard:ZNF334, HGNC:HGNC:15806, ModBase:Q9HCZ1, NCBI Gene:55713, RefSeq DNA:NT_011362, RefSeq Protein:NP_060572, RefSeq Protein:NP_955473, RefSeq RNA:NM_018102, RefSeq RNA:NM_199441, UCSC Genome Browser:NM_018102, UniProtKB:Q5XKG8, UniProtKB:Q9HCZ1 No chr20 45128269 45142198 46463660 46513559 +PA38041 63925 HGNC:15807 ENSG00000198026 zinc finger protein 335 ZNF335 NRC-interacting factor 1 NIF-1, bA465L10.2 Yes No Ensembl:ENSG00000198026, GenAtlas:ZNF335, GeneCard:ZNF335, HGNC:HGNC:15807, HumanCyc Gene:HS04718, ModBase:Q9H4Z2, NCBI Gene:63925, OMIM:610827, RefSeq DNA:NT_011362, RefSeq Protein:NP_071378, RefSeq RNA:NM_022095, UCSC Genome Browser:NM_022095, UniProtKB:Q8IW09, UniProtKB:Q9H4Z2 No chr20 44577292 44601560 45948653 45972910 +PA38043 26152 HGNC:15809 ENSG00000130684 zinc finger protein 337 ZNF337 dJ694B14.1 Yes No Ensembl:ENSG00000130684, GenAtlas:ZNF337, GeneCard:ZNF337, HGNC:HGNC:15809, HumanCyc Gene:HS05419, ModBase:Q9Y3M9, NCBI Gene:26152, RefSeq DNA:NT_011387, RefSeq Protein:NP_056470, RefSeq RNA:NM_015655, UCSC Genome Browser:NM_015655, UniProtKB:Q9Y3M9 No chr20 25654744 25677515 25673195 25696904 +PA37671 7581 HGNC:13096 ENSG00000189180 zinc finger protein 33A ZNF33A zinc finger and ZAK associated protein with KRAB domain FLJ23404, KIAA0065, KOX31, KOX5, ZNF11A, ZNF33, ZZAPK Yes No Ensembl:ENSG00000189180, GenAtlas:ZNF33A, GeneCard:ZNF33A, HGNC:HGNC:13096, HumanCyc Gene:HS01176, ModBase:Q06730, NCBI Gene:7581, OMIM:194521, RefSeq DNA:NT_008705, RefSeq Protein:NP_008885, RefSeq Protein:NP_008905, RefSeq RNA:NM_006954, RefSeq RNA:NM_006974, UCSC Genome Browser:NM_006974, UniProtKB:Q06730 No chr10 38299578 38353946 38010483 38067834 +PA37672 7582 HGNC:13097 ENSG00000196693 zinc finger protein 33B ZNF33B KOX2, KOX31, ZNF11B Yes No Ensembl:ENSG00000196693, GenAtlas:ZNF33B, GeneCard:ZNF33B, HGNC:HGNC:13097, ModBase:Q06731, ModBase:Q06732, NCBI Gene:7582, OMIM:194522, RefSeq DNA:NT_033985, RefSeq Protein:NP_008886, RefSeq RNA:NM_006955, UCSC Genome Browser:NM_006955, UniProtKB:Q06732 No chr10 43084532 43134016 42574169 42638837 +PA37673 80778 HGNC:13098 ENSG00000196378 zinc finger protein 34 ZNF34 KOX32 Yes No Ensembl:ENSG00000196378, GenAtlas:ZNF34, GeneCard:ZNF34, HGNC:HGNC:13098, HumanCyc Gene:HS10159, ModBase:Q8IZ26, NCBI Gene:80778, OMIM:194526, RefSeq DNA:NT_037704, RefSeq Protein:NP_085057, RefSeq RNA:NM_030580, UniProtKB:B3KU46, UniProtKB:Q8IZ26 No chr8 145998499 146012725 144772224 144787371 +PA38076 84905 HGNC:15992 ENSG00000131061 zinc finger protein 341 ZNF341 dJ553F4.3 Yes No Ensembl:ENSG00000131061, GenAtlas:ZNF341, GeneCard:ZNF341, HGNC:HGNC:15992, HumanCyc Gene:HS05481, ModBase:Q9BYN7, NCBI Gene:84905, RefSeq DNA:NT_011362, RefSeq Protein:NP_116208, RefSeq RNA:NM_032819, UCSC Genome Browser:NM_032819, UniProtKB:B3KU97, UniProtKB:Q9BYN7 No chr20 32319566 32380075 33731760 33792269 +PA38081 79175 HGNC:16017 ENSG00000088876 zinc finger protein 343 ZNF343 MGC10715 Yes No Ensembl:ENSG00000088876, GenAtlas:ZNF343, GeneCard:ZNF343, HGNC:HGNC:16017, HumanCyc Gene:HS01613, ModBase:Q6P1L6, NCBI Gene:79175, RefSeq DNA:NT_011387, RefSeq Protein:NP_077301, RefSeq RNA:NM_024325, UniProtKB:Q6P1L6 No chr20 2462463 2489778 2481817 2524522 +PA38128 25850 HGNC:16367 ENSG00000251247 zinc finger protein 345 ZNF345 HZF10 Yes No Ensembl:ENSG00000251247, GenAtlas:ZNF345, GeneCard:ZNF345, HGNC:HGNC:16367, HumanCyc Gene:HS11536, ModBase:Q14585, NCBI Gene:25850, RefSeq DNA:NT_011109, RefSeq Protein:NP_001229401, RefSeq Protein:NP_001229403, RefSeq Protein:NP_001229404, RefSeq Protein:NP_001229405, RefSeq Protein:NP_003410, RefSeq RNA:NM_001242472, RefSeq RNA:NM_001242474, RefSeq RNA:NM_001242475, RefSeq RNA:NM_001242476, RefSeq RNA:NM_003419, RefSeq RNA:NR_038362, UCSC Genome Browser:NM_003419, UniProtKB:Q14585 No chr19 37341260 37384120 36850350 36893218 +PA134898181 23567 HGNC:16403 ENSG00000113761 zinc finger protein 346 ZNF346 JAZ, Zfp346 Yes No Ensembl:ENSG00000113761, GeneCard:ZNF346, HGNC:HGNC:16403, HumanCyc Gene:HS03718, ModBase:Q9UL40, NCBI Gene:23567, OMIM:605308, RefSeq DNA:NT_023133, RefSeq Protein:NP_036411, RefSeq RNA:NM_012279, UniProtKB:Q9UL40 No chr5 176449681 176508189 177022680 177081189 +PA38143 84671 HGNC:16447 ENSG00000197937 zinc finger protein 347 ZNF347 zinc finger 1111 ZNF1111 Yes No Ensembl:ENSG00000197937, GenAtlas:ZNF347, GeneCard:ZNF347, HGNC:HGNC:16447, HumanCyc Gene:HS10214, ModBase:Q96SE7, NCBI Gene:84671, RefSeq DNA:NT_011109, RefSeq Protein:NP_001166145, RefSeq Protein:NP_001166146, RefSeq Protein:NP_115973, RefSeq RNA:NM_001172674, RefSeq RNA:NM_001172675, RefSeq RNA:NM_032584, UCSC Genome Browser:NM_032584, UniProtKB:A8K1S9, UniProtKB:B3KU77, UniProtKB:Q96SE7 No chr19 53641553 53662322 53134935 53159069 +PA37674 7584 HGNC:13099 ENSG00000169981 zinc finger protein 35 ZNF35 HF.10, HF10, Zfp105 Yes No Ensembl:ENSG00000169981, GenAtlas:ZNF35, GeneCard:ZNF35, HGNC:HGNC:13099, HumanCyc Gene:HS10049, ModBase:P13682, NCBI Gene:7584, OMIM:194533, RefSeq DNA:NT_022517, RefSeq Protein:NP_003411, RefSeq RNA:NM_003420, UCSC Genome Browser:NM_003420, UniProtKB:P13682 No chr3 44690108 44702283 44648723 44660791 +PA134972827 59348 HGNC:16656 ENSG00000256683 zinc finger protein 350 ZNF350 ZBRK1, ZFQR Yes No Ensembl:ENSG00000256683, GeneCard:ZNF350, HGNC:HGNC:16656, NCBI Gene:59348, OMIM:605422, RefSeq DNA:NT_011109, RefSeq Protein:NP_067645, RefSeq RNA:NM_021632, UniProtKB:Q9GZX5 No chr19 52467593 52490079 51964340 51986876 +PA36383 6940 HGNC:11628 ENSG00000169131 zinc finger protein 354A ZNF354A EZNF, HKL1, KID-1, KID1, TCF17 Yes No Ensembl:ENSG00000169131, GenAtlas:ZNF354A, GeneCard:ZNF354A, HGNC:HGNC:11628, HumanCyc Gene:HS09887, ModBase:O60765, NCBI Gene:6940, OMIM:602444, RefSeq DNA:NT_023133, RefSeq Protein:NP_005640, RefSeq RNA:NM_005649, UCSC Genome Browser:NM_005649, UniProtKB:O60765 No chr5 178138522 178157703 178711521 178730702 +PA38210 117608 HGNC:17197 ENSG00000178338 zinc finger protein 354B ZNF354B FLJ25008, KID2 Yes No Ensembl:ENSG00000178338, GenAtlas:ZNF354B, GeneCard:ZNF354B, HGNC:HGNC:17197, HumanCyc Gene:HS11277, ModBase:Q96LW1, NCBI Gene:117608, RefSeq DNA:NT_023133, RefSeq Protein:NP_478137, RefSeq RNA:NM_058230, UCSC Genome Browser:NM_058230, UniProtKB:Q96LW1 No chr5 178286954 178311424 178859813 178901135 +PA38184 30832 HGNC:16736 ENSG00000177932 zinc finger protein 354C ZNF354C KID3 Yes No Ensembl:ENSG00000177932, GenAtlas:ZNF354C, GeneCard:ZNF354C, HGNC:HGNC:16736, HumanCyc Gene:HS11230, ModBase:Q86Y25, NCBI Gene:30832, RefSeq DNA:NT_023133, RefSeq Protein:NP_055409, RefSeq RNA:NM_014594, UCSC Genome Browser:NM_014594, UniProtKB:Q86Y25 No chr5 178487607 178510022 179060415 179083977 +PA134923656 100505852 HGNC:17218 ENSG00000168122 zinc finger protein 355, pseudogene ZNF355P PRED65, ZNF834 Yes No Ensembl:ENSG00000168122, GeneCard:ZNF355P, HGNC:HGNC:17218, NCBI Gene:100505852 No chr21 14468106 14529382 +PA38189 140467 HGNC:16838 ENSG00000198816 zinc finger protein 358 ZNF358 FLJ10390, ZFEND Yes No Ensembl:ENSG00000198816, GenAtlas:ZNF358, GeneCard:ZNF358, HGNC:HGNC:16838, ModBase:Q9NW07, NCBI Gene:140467, RefSeq DNA:NT_077812, RefSeq Protein:NP_060553, RefSeq RNA:NM_018083, UCSC Genome Browser:NM_018083, UniProtKB:Q9NW07 No chr19 7580169 7585911 7513880 7521025 +PA38290 149076 HGNC:18079 ENSG00000160094 zinc finger protein 362 ZNF362 rotund homolog (Drosophila) FLJ25476, RN, lin-29 Yes No Ensembl:ENSG00000160094, GenAtlas:ZNF362, GeneCard:ZNF362, HGNC:HGNC:18079, ModBase:Q5T0B9, NCBI Gene:149076, RefSeq DNA:NT_032977, RefSeq Protein:NP_689706, RefSeq RNA:NM_152493, UniProtKB:Q5T0B9 No chr1 33721908 33766321 33256307 33300719 +PA134873576 22891 HGNC:18194 ENSG00000138311 zinc finger protein 365 ZNF365 Talanin KIAA0844, Su48, UAN Yes No Comparative Toxicogenomics Database:22891, Ensembl:ENSG00000138311, GeneCard:ZNF365, HGNC:HGNC:18194, HumanCyc Gene:HS13719, ModBase:Q70YC4, ModBase:Q70YC7, NCBI Gene:22891, OMIM:605990, OMIM:607818, RefSeq DNA:NG_021209, RefSeq DNA:NT_030059, RefSeq Protein:NP_055766, RefSeq Protein:NP_955522, RefSeq Protein:NP_955523, RefSeq Protein:NP_955524, RefSeq RNA:NM_014951, RefSeq RNA:NM_199450, RefSeq RNA:NM_199451, RefSeq RNA:NM_199452, UniProtKB:Q05D75, UniProtKB:Q70YC4, UniProtKB:Q70YC5 No chr10 64133916 64431771 62373609 62672011 +PA38314 167465 HGNC:18316 ENSG00000178175 zinc finger protein 366 ZNF366 FLJ39796 Yes No Ensembl:ENSG00000178175, GenAtlas:ZNF366, GeneCard:ZNF366, HGNC:HGNC:18316, HumanCyc Gene:HS11257, ModBase:Q8N895, NCBI Gene:167465, OMIM:610159, RefSeq DNA:NT_006713, RefSeq Protein:NP_689838, RefSeq RNA:NM_152625, UCSC Genome Browser:NM_152625, UniProtKB:Q5HYI9, UniProtKB:Q8N895 No chr5 71738238 71803249 72439899 72507422 +PA38316 195828 HGNC:18320 ENSG00000165244 zinc finger protein 367 ZNF367 FLJ33970 Yes No Ensembl:ENSG00000165244, GenAtlas:ZNF367, GeneCard:ZNF367, HGNC:HGNC:18320, HumanCyc Gene:HS15305, ModBase:Q7RTV3, NCBI Gene:195828, OMIM:610160, RefSeq DNA:NT_008470, RefSeq Protein:NP_710162, RefSeq RNA:NM_153695, UCSC Genome Browser:NM_153695, UniProtKB:Q7RTV3 No chr9 99148223 99180669 96385941 96418643 +PA37677 7587 HGNC:13102 ENSG00000075407 zinc finger protein 37A ZNF37A KOX21, ZNF37 Yes No Comparative Toxicogenomics Database:7587, Ensembl:ENSG00000075407, GenAtlas:ZNF37A, GeneCard:ZNF37A, HGNC:HGNC:13102, HumanCyc Gene:HS09224, ModBase:P17032, NCBI Gene:7587, RefSeq DNA:NT_008705, RefSeq Protein:NP_001007095, RefSeq Protein:NP_001171572, RefSeq Protein:NP_003412, RefSeq RNA:NM_001007094, RefSeq RNA:NM_001178101, RefSeq RNA:NM_003421, UniProtKB:P17032 No chr10 38383264 38412280 38094327 38150293 +PA37678 100129482 HGNC:13103 ENSG00000234420 zinc finger protein 37B, pseudogene ZNF37BP FLJ23327, KOX21 Yes No Ensembl:ENSG00000234420, GenAtlas:ZNF37B, GeneCard:ZNF37BP, HGNC:HGNC:13103, NCBI Gene:100129482, RefSeq DNA:NT_033985, RefSeq RNA:NR_026777, RefSeq RNA:XR_037028, RefSeq RNA:XR_037227, RefSeq RNA:XR_039227, RefSeq RNA:XR_040507, RefSeq RNA:XR_040508, RefSeq RNA:XR_040509, RefSeq RNA:XR_040510, RefSeq RNA:XR_040511, RefSeq RNA:XR_040512 No chr10 43008958 43048280 42513510 42552870 +PA134869965 84911 HGNC:17409 ENSG00000161298 zinc finger protein 382 ZNF382 FLJ14686, KS1 Yes No Ensembl:ENSG00000161298, GeneCard:ZNF382, HGNC:HGNC:17409, HumanCyc Gene:HS08581, NCBI Gene:84911, OMIM:609516, RefSeq DNA:NT_011109, RefSeq Protein:NP_116214, RefSeq RNA:NM_032825, UniProtKB:Q96SR6 No chr19 37096207 37119499 36605305 36628597 +PA134903145 163087 HGNC:18609 ENSG00000188283 zinc finger protein 383 ZNF383 FLJ35863, Zfp383 Yes No Ensembl:ENSG00000188283, GeneCard:ZNF383, HGNC:HGNC:18609, HumanCyc Gene:HS00871, ModBase:Q8NA42, NCBI Gene:163087, RefSeq DNA:NT_011109, RefSeq Protein:NP_689817, RefSeq RNA:NM_152604, UniProtKB:Q8NA42 No chr19 37708828 37734828 37217243 37248740 +PA36644 171017 HGNC:11955 ENSG00000126746 zinc finger protein 384 ZNF384 CAGH1A, CIZ, NMP4, NP, TNRC1 Yes No Comparative Toxicogenomics Database:171017, Ensembl:ENSG00000126746, GenAtlas:ZNF384, GeneCard:ZNF384, HGNC:HGNC:11955, HumanCyc Gene:HS13213, ModBase:Q8TF68, NCBI Gene:171017, OMIM:609951, RefSeq DNA:NT_009759, RefSeq Protein:NP_001035005, RefSeq Protein:NP_001035006, RefSeq Protein:NP_001035007, RefSeq Protein:NP_001035008, RefSeq Protein:NP_001035009, RefSeq Protein:NP_001129206, RefSeq Protein:NP_597733, RefSeq RNA:NM_001039916, RefSeq RNA:NM_001039917, RefSeq RNA:NM_001039918, RefSeq RNA:NM_001039919, RefSeq RNA:NM_001039920, RefSeq RNA:NM_001135734, RefSeq RNA:NM_133476, UCSC Genome Browser:NM_133476, UniProtKB:A8MQD1, UniProtKB:B4DQU6, UniProtKB:Q7Z722, UniProtKB:Q8TF68 No chr12 6775643 6798738 6666477 6689572 +PA162410095 25946 HGNC:17521 ENSG00000161642 zinc finger protein 385A ZNF385A DKFZp586G1122, Hzf, ZFP385, ZNF385 Yes No Ensembl:ENSG00000161642, GeneCard:ZNF385A, HGNC:HGNC:17521, HumanCyc Gene:HS08603, ModBase:Q96PM9, NCBI Gene:25946, OMIM:609124, RefSeq DNA:NT_029419, RefSeq Protein:NP_001124439, RefSeq Protein:NP_001124440, RefSeq Protein:NP_056296, RefSeq RNA:NM_001130967, RefSeq RNA:NM_001130968, RefSeq RNA:NM_015481, UniProtKB:Q96PM9 No chr12 54762913 54785083 54369129 54391609 +PA162410114 151126 HGNC:26332 ENSG00000144331 zinc finger protein 385B ZNF385B FLJ25270, ZNF533 Yes No Ensembl:ENSG00000144331, GeneCard:ZNF385B, HGNC:HGNC:26332, HumanCyc Gene:HS07165, ModBase:Q569K4, NCBI Gene:151126, OMIM:612344, RefSeq DNA:NT_005403, RefSeq Protein:NP_001106868, RefSeq Protein:NP_001106869, RefSeq Protein:NP_689733, RefSeq RNA:NM_001113397, RefSeq RNA:NM_001113398, RefSeq RNA:NM_152520, UniProtKB:Q569K4 No chr2 180306709 180726232 179441982 179864550 +PA162410139 201181 HGNC:33722 ENSG00000187595 zinc finger protein 385C ZNF385C Yes No Ensembl:ENSG00000187595, GeneCard:ZNF385C, HGNC:HGNC:33722, NCBI Gene:201181, RefSeq DNA:NT_010783, RefSeq Protein:NP_001229633, RefSeq Protein:XP_002343599, RefSeq Protein:XP_002345070, RefSeq Protein:XP_002347806, RefSeq RNA:NM_001242704, RefSeq RNA:XM_002343558, RefSeq RNA:XM_002345029, RefSeq RNA:XM_002347765 No chr17 40177594 40205881 42025576 42065668 +PA162410152 79750 HGNC:26191 ENSG00000151789 zinc finger protein 385D ZNF385D FLJ22419, ZNF659 Yes Yes Ensembl:ENSG00000151789, GeneCard:ZNF385D, HGNC:HGNC:26191, HumanCyc Gene:HS07770, ModBase:Q9H6B1, NCBI Gene:79750, RefSeq DNA:NT_022517, RefSeq Protein:NP_078973, RefSeq RNA:NM_024697, UniProtKB:Q9H6B1 No chr3 21459911 22414132 21418419 22372641 +PA134868215 346157 HGNC:18779 ENSG00000124613 zinc finger protein 391 ZNF391 dJ153G14.3 Yes No Ensembl:ENSG00000124613, GeneCard:ZNF391, HGNC:HGNC:18779, ModBase:Q9UJN7, NCBI Gene:346157, RefSeq DNA:NT_007592, RefSeq Protein:NP_001070249, RefSeq RNA:NM_001076781, UniProtKB:Q9UJN7 No chr6 27356524 27371683 27374635 27403908 +PA38702 84124 HGNC:18832 ENSG00000160908 zinc finger protein 394 ZNF394 FLJ12298, ZKSCAN14, ZSCAN46 Yes No Ensembl:ENSG00000160908, GenAtlas:ZNF394, GeneCard:ZNF394, HGNC:HGNC:18832, HumanCyc Gene:HS08549, ModBase:Q53GI3, NCBI Gene:84124, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_115540, RefSeq RNA:NM_032164, UniProtKB:Q53GI3 No chr7 99084142 99097925 99486519 99500302 +PA134978145 55893 HGNC:18737 ENSG00000186918 zinc finger protein 395 ZNF395 DKFZp434K1210, HDBP2, PBF, PRF-1 Yes No Ensembl:ENSG00000186918, GeneCard:ZNF395, HGNC:HGNC:18737, ModBase:Q9H8N7, NCBI Gene:55893, OMIM:609494, RefSeq DNA:NT_167187, RefSeq Protein:NP_061130, RefSeq RNA:NM_018660, UniProtKB:Q9H8N7 No chr8 28203102 28243983 28345585 28386460 +PA38697 252884 HGNC:18824 ENSG00000186496 zinc finger protein 396 ZNF396 FLJ31213, ZSCAN14 Yes No Ensembl:ENSG00000186496, GenAtlas:ZNF396, GeneCard:ZNF396, HGNC:HGNC:18824, HumanCyc Gene:HS10523, ModBase:Q96N95, NCBI Gene:252884, OMIM:609600, RefSeq DNA:NT_010966, RefSeq Protein:NP_665699, RefSeq RNA:NM_145756, UCSC Genome Browser:NM_145756, UniProtKB:Q96N95 No chr18 32946661 32957301 35366697 35377337 +PA38694 84307 HGNC:18818 ENSG00000186812 zinc finger protein 397 ZNF397 MGC13250, ZNF47, ZSCAN15 Yes No Ensembl:ENSG00000186812, GenAtlas:ZNF397, GeneCard:ZNF397, HGNC:HGNC:18818, HumanCyc Gene:HS04208, ModBase:Q8NF99, NCBI Gene:84307, OMIM:609601, RefSeq DNA:NG_015815, RefSeq DNA:NT_010966, RefSeq Protein:NP_001128650, RefSeq Protein:NP_115723, RefSeq RNA:NM_001135178, RefSeq RNA:NM_032347, UCSC Genome Browser:NM_032347, UniProtKB:Q8NF99 No chr18 32820994 32838397 35240705 35258433 +PA38532 57541 HGNC:18373 ENSG00000197024 zinc finger protein 398 ZNF398 KIAA1339, P51, P71, ZER6 Yes No Ensembl:ENSG00000197024, GenAtlas:ZNF398, GeneCard:ZNF398, HGNC:HGNC:18373, HumanCyc Gene:HS10091, ModBase:Q8TD17, NCBI Gene:57541, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_065832, RefSeq Protein:NP_733787, RefSeq RNA:NM_020781, RefSeq RNA:NM_170686, UCSC Genome Browser:NM_020781, UniProtKB:Q8TD17 No chr7 148823508 148880134 149126416 149183042 +PA134905302 266673 HGNC:19292 ENSG00000220248 zinc finger protein 402, pseudogene ZNF402P Yes No Ensembl:ENSG00000220248, GeneCard:ZNF402P, HGNC:HGNC:19292, NCBI Gene:266673, RefSeq DNA:NG_002664, RefSeq DNA:NT_011519 No chr22 17338026 17341721 16856938 16860731 +PA134880927 342908 HGNC:19417 ENSG00000176222 zinc finger protein 404 ZNF404 Yes No Ensembl:ENSG00000176222, GeneCard:ZNF404, HGNC:HGNC:19417, ModBase:Q494X3, NCBI Gene:342908, RefSeq DNA:NT_011109, RefSeq Protein:NP_001028891, RefSeq RNA:NM_001033719, UniProtKB:Q494X3 No chr19 44376515 44388116 43872363 43883964 +PA134942906 55628 HGNC:19904 ENSG00000215421 zinc finger protein 407 ZNF407 FLJ13839, FLJ20307, KIAA1703 Yes No Ensembl:ENSG00000215421, GeneCard:ZNF407, HGNC:HGNC:19904, ModBase:Q9C0G0, NCBI Gene:55628, RefSeq DNA:NG_013216, RefSeq DNA:NT_025028, RefSeq Protein:NP_001139661, RefSeq Protein:NP_001139662, RefSeq Protein:NP_060227, RefSeq RNA:NM_001146189, RefSeq RNA:NM_001146190, RefSeq RNA:NM_017757, UniProtKB:Q9C0G0 No chr18 72265106 72777628 74597735 75065672 +PA134936136 79797 HGNC:20041 ENSG00000175213 zinc finger protein 408 ZNF408 FLJ12827 Yes No Ensembl:ENSG00000175213, GeneCard:ZNF408, HGNC:HGNC:20041, HumanCyc Gene:HS10896, ModBase:Q9H9D4, NCBI Gene:79797, RefSeq DNA:NT_009237, RefSeq Protein:NP_001171680, RefSeq Protein:NP_079017, RefSeq RNA:NM_001184751, RefSeq RNA:NM_024741, UniProtKB:B4DXY4, UniProtKB:Q9H9D4 No chr11 46722317 46727466 46700767 46705916 +PA37682 7592 HGNC:13107 ENSG00000147124 zinc finger protein 41 ZNF41 MGC8941, MRX89 Yes No Comparative Toxicogenomics Database:7592, Ensembl:ENSG00000147124, GenAtlas:ZNF41, GeneCard:ZNF41, HGNC:HGNC:13107, HumanCyc Gene:HS07396, ModBase:Q9UMV9, NCBI Gene:7592, OMIM:314995, RefSeq DNA:NG_008238, RefSeq DNA:NT_079573, RefSeq Protein:NP_009061, RefSeq Protein:NP_700359, RefSeq RNA:NM_007130, RefSeq RNA:NM_153380, UCSC Genome Browser:NM_007130, UniProtKB:P51814 No chrX 47305281 47343070 47444691 47483671 +PA134958929 57862 HGNC:20144 ENSG00000119725 zinc finger protein 410 ZNF410 APA-1, APA1 Yes No Comparative Toxicogenomics Database:57862, Ensembl:ENSG00000119725, GeneCard:ZNF410, HGNC:HGNC:20144, HumanCyc Gene:HS12955, ModBase:Q86VK4, NCBI Gene:57862, RefSeq DNA:NT_026437, RefSeq Protein:NP_001229853, RefSeq Protein:NP_001229855, RefSeq Protein:NP_001229856, RefSeq Protein:NP_001229857, RefSeq Protein:NP_067011, RefSeq RNA:NM_001242924, RefSeq RNA:NM_001242926, RefSeq RNA:NM_001242927, RefSeq RNA:NM_001242928, RefSeq RNA:NM_021188, RefSeq RNA:NR_040251, UniProtKB:Q86VK4 No chr14 74353318 74398991 73886615 73932288 +PA142670521 84330 HGNC:20630 ENSG00000133250 zinc finger protein 414 ZNF414 MGC15716, Zfp414 Yes No Ensembl:ENSG00000133250, GeneCard:ZNF414, HGNC:HGNC:20630, HumanCyc Gene:HS13470, ModBase:Q96IQ9, NCBI Gene:84330, RefSeq DNA:NT_077812, RefSeq Protein:NP_001139647, RefSeq Protein:NP_115746, RefSeq RNA:NM_001146175, RefSeq RNA:NM_032370, UniProtKB:A8MY94, UniProtKB:Q96IQ9 No chr19 8575462 8579048 8510578 8514164 +PA134984602 55786 HGNC:20636 ENSG00000170954 zinc finger protein 415 ZNF415 Yes No Ensembl:ENSG00000170954, GeneCard:ZNF415, HGNC:HGNC:20636, HumanCyc Gene:HS10217, NCBI Gene:55786, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129510, RefSeq Protein:NP_001157781, RefSeq Protein:NP_060825, RefSeq RNA:NM_001136038, RefSeq RNA:NM_001164309, RefSeq RNA:NM_018355, RefSeq RNA:NR_028343, UniProtKB:B3KTG1, UniProtKB:Q09FC8 No chr19 53611132 53636173 53107879 53133077 +PA134905500 55659 HGNC:20645 ENSG00000083817 zinc finger protein 416 ZNF416 FLJ20557 Yes No Ensembl:ENSG00000083817, GeneCard:ZNF416, HGNC:HGNC:20645, ModBase:Q9BWM5, NCBI Gene:55659, RefSeq DNA:NT_011109, RefSeq Protein:NP_060349, RefSeq RNA:NM_017879, UniProtKB:Q9BWM5 No chr19 58082387 58090266 57571015 57578938 +PA134863699 147687 HGNC:20646 ENSG00000173480 zinc finger protein 417 ZNF417 MGC34079 Yes No Ensembl:ENSG00000173480, GeneCard:ZNF417, HGNC:HGNC:20646, HumanCyc Gene:HS10673, ModBase:Q8TAU3, NCBI Gene:147687, RefSeq DNA:NT_011109, RefSeq Protein:NP_689688, RefSeq RNA:NM_152475, UniProtKB:Q8TAU3 No chr19 58417142 58427978 57905496 57916616 +PA134912102 147686 HGNC:20647 ENSG00000196724 zinc finger protein 418 ZNF418 FLJ31551, KIAA1956 Yes No Ensembl:ENSG00000196724, GeneCard:ZNF418, HGNC:HGNC:20647, ModBase:Q8TF45, NCBI Gene:147686, RefSeq DNA:NT_011109, RefSeq Protein:NP_597717, RefSeq RNA:NM_133460, UniProtKB:Q8TF45 No chr19 58433252 58446795 57921882 57935404 +PA134871733 79744 HGNC:20648 ENSG00000105136 zinc finger protein 419 ZNF419 ZAPHIR, ZNF419A Yes No Ensembl:ENSG00000105136, GeneCard:ZNF419, HGNC:HGNC:20648, HumanCyc Gene:HS02679, ModBase:Q96HQ0, NCBI Gene:79744, RefSeq DNA:NT_011109, RefSeq Protein:NP_001091961, RefSeq Protein:NP_001091962, RefSeq Protein:NP_001091963, RefSeq Protein:NP_001091964, RefSeq Protein:NP_001091965, RefSeq Protein:NP_001091966, RefSeq Protein:NP_078967, RefSeq RNA:NM_001098491, RefSeq RNA:NM_001098492, RefSeq RNA:NM_001098493, RefSeq RNA:NM_001098494, RefSeq RNA:NM_001098495, RefSeq RNA:NM_001098496, RefSeq RNA:NM_024691, UniProtKB:Q96HQ0 No chr19 57999079 58006048 57487711 57494680 +PA134958420 147923 HGNC:20649 ENSG00000197050 zinc finger protein 420 ZNF420 FLJ32191 Yes No Ensembl:ENSG00000197050, GeneCard:ZNF420, HGNC:HGNC:20649, HumanCyc Gene:HS10399, ModBase:Q8TAQ5, NCBI Gene:147923, RefSeq DNA:NT_011109, RefSeq Protein:NP_653290, RefSeq RNA:NM_144689, UniProtKB:Q8TAQ5 No chr19 37569319 37621221 37007815 37130322 +PA134903681 23090 HGNC:16762 ENSG00000102935 zinc finger protein 423 ZNF423 OLF-1/EBF associated zinc finger gene, Smad- and Olf-interacting zinc finger protein, early B-cell factor associated zinc finger protein Ebfaz, JBTS19, KIAA0760, NPHP14, OAZ, Roaz, Zfp104, hOAZ Yes Yes Ensembl:ENSG00000102935, GeneCard:ZNF423, HGNC:HGNC:16762, HumanCyc Gene:HS12502, ModBase:Q2M1K9, NCBI Gene:23090, OMIM:604557, RefSeq DNA:NT_010498, RefSeq Protein:NP_055884, RefSeq RNA:NM_015069, UniProtKB:B3KNG7, UniProtKB:Q2M1K9 No chr16 49524515 49891830 49487531 49857919 +PA134984453 155054 HGNC:20690 ENSG00000204947 zinc finger protein 425 ZNF425 Yes No Ensembl:ENSG00000204947, GeneCard:ZNF425, HGNC:HGNC:20690, ModBase:Q6IV72, NCBI Gene:155054, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001001661, RefSeq RNA:NM_001001661, UniProtKB:Q6IV72 No chr7 148799853 148823438 149102784 149126346 +PA134991761 79088 HGNC:20725 ENSG00000130818 zinc finger protein 426 ZNF426 MGC2663 Yes No Comparative Toxicogenomics Database:79088, Ensembl:ENSG00000130818, GeneCard:ZNF426, HGNC:HGNC:20725, HumanCyc Gene:HS05449, ModBase:Q9BUY5, NCBI Gene:79088, RefSeq DNA:NT_011295, RefSeq Protein:NP_077011, RefSeq RNA:NM_024106, UniProtKB:Q9BUY5 No chr19 9638667 9649638 9523224 9538673 +PA142672216 126299 HGNC:20804 ENSG00000131116 zinc finger protein 428 ZNF428 C19orf37, MGC51082, Zfp428 Yes No Comparative Toxicogenomics Database:126299, Ensembl:ENSG00000131116, GeneCard:ZNF428, HGNC:HGNC:20804, ModBase:Q96B54, NCBI Gene:126299, RefSeq DNA:NT_011109, RefSeq Protein:NP_872304, RefSeq RNA:NM_182498, UniProtKB:Q96B54 No chr19 44111376 44124298 43607224 43619862 +PA134910790 353088 HGNC:20817 ENSG00000197013 zinc finger protein 429 ZNF429 Yes No Ensembl:ENSG00000197013, GeneCard:ZNF429, HGNC:HGNC:20817, ModBase:Q86V71, NCBI Gene:353088, RefSeq DNA:NT_011295, RefSeq Protein:NP_001001415, RefSeq RNA:NM_001001415, UniProtKB:Q86V71 No chr19 21688437 21721079 21505257 21541157 +PA37684 7594 HGNC:13109 ENSG00000198521 zinc finger protein 43 ZNF43 HTF6, KOX27, ZNF39L1 Yes No Ensembl:ENSG00000198521, GenAtlas:ZNF43, GeneCard:ZNF43, HGNC:HGNC:13109, HumanCyc Gene:HS09835, ModBase:P17038, NCBI Gene:7594, OMIM:603972, RefSeq DNA:NT_011295, RefSeq Protein:NP_003414, RefSeq RNA:NM_003423, UCSC Genome Browser:NM_003423, UniProtKB:P17038 No chr19 21987751 22034870 21804946 21852095 +PA134987901 80264 HGNC:20808 ENSG00000118620 zinc finger protein 430 ZNF430 FLJ13659 Yes No Ensembl:ENSG00000118620, GeneCard:ZNF430, HGNC:HGNC:20808, HumanCyc Gene:HS04239, ModBase:Q9H8G1, NCBI Gene:80264, RefSeq DNA:NT_011295, RefSeq Protein:NP_001166142, RefSeq Protein:NP_079465, RefSeq RNA:NM_001172671, RefSeq RNA:NM_025189, UniProtKB:A8K360, UniProtKB:Q2NKJ9, UniProtKB:Q9H8G1 No chr19 21203426 21242852 21020620 21060046 +PA134932493 170959 HGNC:20809 ENSG00000196705 zinc finger protein 431 ZNF431 KIAA1969 Yes No Ensembl:ENSG00000196705, GeneCard:ZNF431, HGNC:HGNC:20809, ModBase:Q8TF32, NCBI Gene:170959, RefSeq DNA:NT_011295, RefSeq Protein:NP_597730, RefSeq RNA:NM_133473, UniProtKB:Q8TF32 No chr19 21324813 21371070 21142009 21191367 +PA134935907 9668 HGNC:20810 ENSG00000256087 zinc finger protein 432 ZNF432 KIAA0798 Yes Yes Ensembl:ENSG00000256087, GeneCard:ZNF432, HGNC:HGNC:20810, HumanCyc Gene:HS09628, ModBase:O94892, NCBI Gene:9668, RefSeq DNA:NT_011109, RefSeq Protein:NP_055465, RefSeq RNA:NM_014650, UniProtKB:O94892 No chr19 52536677 52552073 52031379 52049124 +PA134943717 163059 HGNC:20811 ENSG00000197647 zinc finger protein 433 ZNF433 FLJ40981 Yes No Ensembl:ENSG00000197647, GeneCard:ZNF433, HGNC:HGNC:20811, ModBase:Q8N7K0, NCBI Gene:163059, RefSeq DNA:NT_011295, RefSeq Protein:NP_001073880, RefSeq RNA:NM_001080411, UniProtKB:C9JQA6, UniProtKB:Q8N7K0 No chr19 12125532 12146525 12014717 12035741 +PA134911283 80818 HGNC:20814 ENSG00000125945 zinc finger protein 436 ZNF436 KIAA1710, Zfp46 Yes No Ensembl:ENSG00000125945, GeneCard:ZNF436, HGNC:HGNC:20814, HumanCyc Gene:HS04973, ModBase:Q9C0F3, NCBI Gene:80818, OMIM:611703, RefSeq DNA:NT_004610, RefSeq Protein:NP_001070663, RefSeq Protein:NP_085137, RefSeq RNA:NM_001077195, RefSeq RNA:NM_030634, UniProtKB:Q9C0F3 No chr1 23685941 23696357 23359448 23369864 +PA143485677 220929 HGNC:21029 ENSG00000183621 zinc finger protein 438 ZNF438 bA330O11.1 Yes No Ensembl:ENSG00000183621, GeneCard:ZNF438, HGNC:HGNC:21029, ModBase:Q7Z4V0, NCBI Gene:220929, RefSeq DNA:NT_008705, RefSeq Protein:NP_001137238, RefSeq Protein:NP_001137239, RefSeq Protein:NP_001137240, RefSeq Protein:NP_001137241, RefSeq Protein:NP_001137242, RefSeq Protein:NP_001137243, RefSeq Protein:NP_877432, RefSeq RNA:NM_001143766, RefSeq RNA:NM_001143767, RefSeq RNA:NM_001143768, RefSeq RNA:NM_001143769, RefSeq RNA:NM_001143770, RefSeq RNA:NM_001143771, RefSeq RNA:NM_182755, RefSeq RNA:NR_026560, UniProtKB:Q7Z4V0 No chr10 31133563 31320866 30844634 31032406 +PA134886330 90594 HGNC:20873 ENSG00000171291 zinc finger protein 439 ZNF439 DKFZp571K0837 Yes No Ensembl:ENSG00000171291, GeneCard:ZNF439, HGNC:HGNC:20873, HumanCyc Gene:HS10280, ModBase:Q8NDP4, NCBI Gene:90594, RefSeq DNA:NT_011295, RefSeq Protein:NP_689475, RefSeq RNA:NM_152262, UniProtKB:Q8NDP4 No chr19 11959541 11980306 11866029 11869491 +PA166352302 HGNC:13106 zinc finger protein 43-like ZNF43L ZNF39L2 KOX27 Yes No HGNC:HGNC:13106 No 0 0 0 0 +PA37685 51710 HGNC:13110 ENSG00000197857 zinc finger protein 44 ZNF44 KOX7, ZNF504, ZNF55, ZNF58 Yes No Comparative Toxicogenomics Database:51710, Ensembl:ENSG00000197857, GenAtlas:ZNF44, GeneCard:ZNF44, HGNC:HGNC:13110, HumanCyc Gene:HS10278, NCBI Gene:51710, OMIM:194542, RefSeq DNA:NT_011295, RefSeq Protein:NP_001157748, RefSeq Protein:NP_057348, RefSeq RNA:NM_001164276, RefSeq RNA:NM_016264, UCSC Genome Browser:NM_016264, UniProtKB:P15621 No chr19 12358059 12405714 12224686 12294904 +PA134917447 126070 HGNC:20874 ENSG00000171295 zinc finger protein 440 ZNF440 FLJ37933 Yes No Ensembl:ENSG00000171295, GeneCard:ZNF440, HGNC:HGNC:20874, HumanCyc Gene:HS10281, ModBase:Q8IYI8, NCBI Gene:126070, RefSeq DNA:NT_011295, RefSeq Protein:NP_689570, RefSeq RNA:NM_152357, UniProtKB:Q8IYI8 No chr19 11925099 11946016 11814241 11835617 +PA134991367 126068 HGNC:20875 ENSG00000197044 zinc finger protein 441 ZNF441 FLJ38637 Yes No Ensembl:ENSG00000197044, GeneCard:ZNF441, HGNC:HGNC:20875, HumanCyc Gene:HS11194, ModBase:Q8N8Z8, NCBI Gene:126068, RefSeq DNA:NT_011295, RefSeq Protein:NP_689568, RefSeq RNA:NM_152355 No chr19 11877815 11894893 11767000 11784078 +PA134983440 79973 HGNC:20877 ENSG00000198342 zinc finger protein 442 ZNF442 FLJ14356 Yes No Ensembl:ENSG00000198342, GeneCard:ZNF442, HGNC:HGNC:20877, HumanCyc Gene:HS06872, ModBase:Q9H7R0, NCBI Gene:79973, RefSeq DNA:NT_011295, RefSeq Protein:NP_110451, RefSeq RNA:NM_030824, UniProtKB:Q9H7R0 No chr19 12460185 12476475 12349371 12372636 +PA134968382 10224 HGNC:20878 ENSG00000180855 zinc finger protein 443 ZNF443 ZK1 Yes No Comparative Toxicogenomics Database:10224, Ensembl:ENSG00000180855, GeneCard:ZNF443, HGNC:HGNC:20878, HumanCyc Gene:HS04637, ModBase:Q9Y2A4, NCBI Gene:10224, OMIM:606697, RefSeq DNA:NT_011295, RefSeq Protein:NP_005806, RefSeq RNA:NM_005815, UniProtKB:Q9Y2A4 No chr19 12537710 12551926 12429706 12458699 +PA134984823 55311 HGNC:16052 ENSG00000167685 zinc finger protein 444 ZNF444 EZF2, FLJ11137, ZSCAN17 Yes No Ensembl:ENSG00000167685, GeneCard:ZNF444, HGNC:HGNC:16052, HumanCyc Gene:HS09607, ModBase:Q8N0Y2, NCBI Gene:55311, OMIM:607874, RefSeq DNA:NT_011109, RefSeq Protein:NP_060807, RefSeq RNA:NM_018337, UniProtKB:Q8N0Y2 No chr19 56652320 56672262 56140951 56160893 +PA134904986 353274 HGNC:21018 ENSG00000185219 zinc finger protein 445 ZNF445 ZKSCAN15, ZNF168, ZSCAN47 Yes No Ensembl:ENSG00000185219, GeneCard:ZNF445, HGNC:HGNC:21018, ModBase:P59923, NCBI Gene:353274, RefSeq DNA:NT_022517, RefSeq Protein:NP_852466, RefSeq RNA:NM_181489, UniProtKB:P59923 No chr3 44481262 44519162 44439770 44477670 +PA134863395 55663 HGNC:21036 ENSG00000083838 zinc finger protein 446 ZNF446 FLJ20626, ZKSCAN20, ZSCAN52 Yes No Ensembl:ENSG00000083838, GeneCard:ZNF446, HGNC:HGNC:21036, HumanCyc Gene:HS01456, ModBase:Q9NWS9, NCBI Gene:55663, RefSeq DNA:NT_011109, RefSeq Protein:NP_060378, RefSeq RNA:NM_017908, UniProtKB:Q9NWS9 No chr19 58985910 58992601 58475855 58489533 +PA134920699 203523 HGNC:21039 ENSG00000173275 zinc finger protein 449 ZNF449 FLJ23614, ZSCAN19 Yes No Ensembl:ENSG00000173275, GeneCard:ZNF449, HGNC:HGNC:21039, HumanCyc Gene:HS10643, ModBase:Q6P9G9, NCBI Gene:203523, OMIM:300627, RefSeq DNA:NG_021220, RefSeq DNA:NT_011786, RefSeq Protein:NP_689908, RefSeq RNA:NM_152695, UniProtKB:Q6P9G9, UniProtKB:Q7Z3P1 No chrX 134478696 134497338 135344098 135363413 +PA37686 7596 HGNC:13111 ENSG00000124459 zinc finger protein 45 ZNF45 ZNF13 Yes No Ensembl:ENSG00000124459, GenAtlas:ZNF45, GeneCard:ZNF45, HGNC:HGNC:13111, HumanCyc Gene:HS04772, ModBase:Q02386, NCBI Gene:7596, OMIM:194554, RefSeq DNA:NT_011109, RefSeq Protein:NP_003416, RefSeq RNA:NM_003425, UCSC Genome Browser:NM_003425, UniProtKB:Q02386 No chr19 44416776 44439411 43912624 43935278 +PA134967635 26036 HGNC:21091 ENSG00000112200 zinc finger protein 451 ZNF451 zinc finger protein associated with TDP2 and TOP2 COASTER, KIAA0576, KIAA1702, ZATT, dJ417I1.1 Yes No Ensembl:ENSG00000112200, GeneCard:ZNF451, HGNC:HGNC:21091, HumanCyc Gene:HS12767, ModBase:Q9Y4E5, NCBI Gene:26036, RefSeq DNA:NT_007592, RefSeq Protein:NP_001026794, RefSeq Protein:NP_056370, RefSeq Protein:XP_003118605, RefSeq RNA:NM_001031623, RefSeq RNA:NM_015555, RefSeq RNA:XM_003118557, UniProtKB:Q96JY2, UniProtKB:Q9Y4E5 No chr6 56954808 57035103 57089203 57170305 +PA134974337 285676 HGNC:21200 ENSG00000178187 zinc finger protein 454 ZNF454 FLJ37444 Yes No Ensembl:ENSG00000178187, GeneCard:ZNF454, HGNC:HGNC:21200, ModBase:Q8N9F8, NCBI Gene:285676, RefSeq DNA:NT_023133, RefSeq Protein:NP_001171560, RefSeq Protein:NP_001171561, RefSeq Protein:NP_872400, RefSeq RNA:NM_001178089, RefSeq RNA:NM_001178090, RefSeq RNA:NM_182594, UniProtKB:Q8N9F8 No chr5 178368194 178393218 178941191 178966433 +PA37642 10794 HGNC:21628 ENSG00000197714 zinc finger protein 460 ZNF460 HZF8, ZNF272 Yes No Ensembl:ENSG00000197714, GenAtlas:ZNF460, GeneCard:ZNF460, HGNC:HGNC:21628, ModBase:Q14592, NCBI Gene:10794, OMIM:604755, RefSeq DNA:NT_011109, RefSeq Protein:NP_006626, RefSeq RNA:NM_006635, UniProtKB:Q14592 No chr19 57790776 57805436 57279408 57298370 +PA145149895 92283 HGNC:21629 ENSG00000197808 zinc finger protein 461 ZNF461 GIOT-1, MGC33911 Yes No Ensembl:ENSG00000197808, GeneCard:ZNF461, HGNC:HGNC:21629, HumanCyc Gene:HS15578, ModBase:Q8TAF7, NCBI Gene:92283, OMIM:608640, RefSeq DNA:NT_011109, RefSeq Protein:NP_694989, RefSeq RNA:NM_153257, UniProtKB:Q8TAF7 No chr19 37128283 37157740 36636621 36666853 +PA134949139 58499 HGNC:21684 ENSG00000148143 zinc finger protein 462 ZNF462 DKFZP762N2316, KIAA1803, Zfp462 Yes No Comparative Toxicogenomics Database:58499, Ensembl:ENSG00000148143, GeneCard:ZNF462, HGNC:HGNC:21684, ModBase:Q96JM2, NCBI Gene:58499, RefSeq DNA:NT_008470, RefSeq Protein:NP_067047, RefSeq RNA:NM_021224, UniProtKB:Q63HJ5, UniProtKB:Q96JM2 No chr9 109622469 109775525 106860154 107012258 +PA134886769 168544 HGNC:23154 ENSG00000181444 zinc finger protein 467 ZNF467 EZI, Zfp467 Yes No Ensembl:ENSG00000181444, GeneCard:ZNF467, HGNC:HGNC:23154, ModBase:Q7Z7K2, NCBI Gene:168544, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_997219, RefSeq RNA:NM_207336, UniProtKB:Q7Z7K2 No chr7 149461452 149470295 149764175 149776323 +PA162410166 90333 HGNC:33105 ENSG00000204604 zinc finger protein 468 ZNF468 Yes No Ensembl:ENSG00000204604, GeneCard:ZNF468, HGNC:HGNC:33105, ModBase:Q5VIY5, NCBI Gene:90333, RefSeq DNA:NT_011109, RefSeq Protein:NP_001008801, RefSeq Protein:NP_954583, RefSeq RNA:NM_001008801, RefSeq RNA:NM_199132, UniProtKB:Q5VIY5 No chr19 53341785 53360902 52838532 52857649 +PA134861470 84627 HGNC:23216 ENSG00000225614 zinc finger protein 469 ZNF469 KIAA1858, Zfp469 Yes No Comparative Toxicogenomics Database:84627, Ensembl:ENSG00000225614, GeneCard:ZNF469, HGNC:HGNC:23216, NCBI Gene:84627, OMIM:229200, OMIM:612078, RefSeq DNA:NG_012236, RefSeq DNA:NT_010542, RefSeq Protein:NP_001120936, RefSeq RNA:NM_001127464, UniProtKB:Q96JG9 No chr16 88493879 88507165 88424805 88440757 +PA145007252 388566 HGNC:22220 ENSG00000197016 zinc finger protein 470 ZNF470 CZF-1, FLJ26175 Yes No Ensembl:ENSG00000197016, GeneCard:ZNF470, HGNC:HGNC:22220, NCBI Gene:388566, RefSeq DNA:NT_011109, RefSeq Protein:NP_001001668, RefSeq RNA:NM_001001668, UniProtKB:Q6ECI4 No chr19 57078401 57099965 56567521 56582894 +PA134940750 57573 HGNC:23226 ENSG00000196263 zinc finger protein 471 ZNF471 KIAA1396, Z1971, Zfp78 Yes No Ensembl:ENSG00000196263, GeneCard:ZNF471, HGNC:HGNC:23226, ModBase:Q9BX82, NCBI Gene:57573, RefSeq DNA:NT_011109, RefSeq Protein:NP_065864, RefSeq RNA:NM_020813, UniProtKB:Q9BX82 No chr19 57019212 57041581 56507843 56530214 +PA134987987 25888 HGNC:23239 ENSG00000142528 zinc finger protein 473 ZNF473 DKFZP434N043, HZFP100, KIAA1141 Yes No Ensembl:ENSG00000142528, GeneCard:ZNF473, HGNC:HGNC:23239, ModBase:Q8WTR7, NCBI Gene:25888, RefSeq DNA:NT_011109, RefSeq Protein:NP_001006657, RefSeq Protein:NP_056243, RefSeq RNA:NM_001006656, RefSeq RNA:NM_015428, UniProtKB:Q8WTR7 No chr19 50528786 50552033 50025806 50048776 +PA144596519 133923 HGNC:23245 ENSG00000164185 zinc finger protein 474 ZNF474 4933409D10Rik, FLJ32921 Yes No Ensembl:ENSG00000164185, GeneCard:ZNF474, HGNC:HGNC:23245, ModBase:Q6S9Z5, NCBI Gene:133923, RefSeq DNA:NT_034772, RefSeq Protein:NP_997200, RefSeq RNA:NM_207317, UniProtKB:Q6S9Z5 No chr5 121465215 121489266 122129513 122153571 +PA166352323 100505841 HGNC:53564 zinc finger protein 475 ZNF475 Yes No HGNC:HGNC:53564, NCBI Gene:100505841 No 0 0 0 0 +PA134903704 90827 HGNC:23258 ENSG00000185177 zinc finger protein 479 ZNF479 KR19 Yes No Ensembl:ENSG00000185177, GeneCard:ZNF479, HGNC:HGNC:23258, ModBase:Q96JC4, NCBI Gene:90827, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_150376, RefSeq RNA:NM_033273, UniProtKB:Q96JC4 No chr7 57187321 57207571 57119574 57139899 +PA37689 197407 HGNC:13114 ENSG00000180035 zinc finger protein 48 ZNF48 DKFZp762K013, FLJ31751, MGC43952, ZNF553 Yes No Ensembl:ENSG00000180035, GenAtlas:ZNF48, GeneCard:ZNF48, HGNC:HGNC:13114, HumanCyc Gene:HS17414, ModBase:Q96MX3, NCBI Gene:197407, RefSeq DNA:NT_010393, RefSeq Protein:NP_001201835, RefSeq Protein:NP_001201836, RefSeq Protein:NP_001201838, RefSeq Protein:NP_689865, RefSeq RNA:NM_001214906, RefSeq RNA:NM_001214907, RefSeq RNA:NM_001214909, RefSeq RNA:NM_152652, UniProtKB:Q96MX3 No chr16 30389633 30411429 30378312 30400108 +PA134876563 147657 HGNC:23305 ENSG00000198464 zinc finger protein 480 ZNF480 MGC32104 Yes No Ensembl:ENSG00000198464, GeneCard:ZNF480, HGNC:HGNC:23305, HumanCyc Gene:HS10226, ModBase:Q8WV37, NCBI Gene:147657, RefSeq DNA:NT_011109, RefSeq Protein:NP_653285, RefSeq RNA:NM_144684, UniProtKB:Q7Z2X8, UniProtKB:Q8WV37 No chr19 52800426 52829180 52297169 52325927 +PA134897404 158399 HGNC:23384 ENSG00000173258 zinc finger protein 483 ZNF483 KIAA1962, ZKSCAN16, ZSCAN48 Yes No Ensembl:ENSG00000173258, GeneCard:ZNF483, HGNC:HGNC:23384, ModBase:Q8TF39, NCBI Gene:158399, RefSeq DNA:NT_008470, RefSeq Protein:NP_001007170, RefSeq Protein:NP_597721, RefSeq RNA:NM_001007169, RefSeq RNA:NM_133464, UniProtKB:A7MD06, UniProtKB:Q8NAE1, UniProtKB:Q8TF39 No chr9 114287439 114340124 111525159 111577844 +PA134992184 83744 HGNC:23385 ENSG00000127081 zinc finger protein 484 ZNF484 BA526D8.4, FLJ33884 Yes No Ensembl:ENSG00000127081, GeneCard:ZNF484, HGNC:HGNC:23385, ModBase:Q5JVG2, NCBI Gene:83744, RefSeq DNA:NT_008470, RefSeq Protein:NP_001007102, RefSeq Protein:NP_113674, RefSeq RNA:NM_001007101, RefSeq RNA:NM_031486, UniProtKB:B1AL89, UniProtKB:Q5JVG2 No chr9 95607313 95640320 92834262 92878060 +PA134887005 220992 HGNC:23440 ENSG00000198298 zinc finger protein 485 ZNF485 Yes No Ensembl:ENSG00000198298, GeneCard:ZNF485, HGNC:HGNC:23440, ModBase:Q8NCK3, NCBI Gene:220992, RefSeq DNA:NT_033985, RefSeq Protein:NP_660355, RefSeq RNA:NM_145312, UniProtKB:Q8NCK3 No chr10 44101855 44113352 43606407 43620173 +PA134919932 90649 HGNC:20807 ENSG00000256229 zinc finger protein 486 ZNF486 KRBO2, MGC2396 Yes No Ensembl:ENSG00000256229, GeneCard:ZNF486, HGNC:HGNC:20807, HumanCyc Gene:HS08476, NCBI Gene:90649, RefSeq DNA:NT_011295, RefSeq Protein:NP_443084, RefSeq RNA:NM_052852, UniProtKB:Q0VG00 No chr19 20278020 20311299 20167214 20200490 +PA143485525 642819 HGNC:23488 ENSG00000243660 zinc finger protein 487 ZNF487 KRBO1, ZNF487P Yes No Ensembl:ENSG00000243660, HGNC:HGNC:23488, NCBI Gene:642819, RefSeq DNA:NT_033985, RefSeq Protein:XP_001714482, RefSeq Protein:XP_931317, RefSeq Protein:XP_941804, RefSeq RNA:NM_001355444, RefSeq RNA:XM_001714430, RefSeq RNA:XM_926224, RefSeq RNA:XM_936711 No chr10 43932574 43978007 43437126 43482559 +PA134917840 118738 HGNC:23535 ENSG00000265763 zinc finger protein 488 ZNF488 FLJ32104 Yes No Comparative Toxicogenomics Database:118738, Ensembl:ENSG00000265763, GeneCard:ZNF488, HGNC:HGNC:23535, HumanCyc Gene:HS15319, ModBase:Q96MN9, NCBI Gene:118738, RefSeq DNA:NT_030772, RefSeq Protein:NP_694579, RefSeq RNA:NM_153034, UniProtKB:Q96MN9 No chr10 48355029 48373866 47365482 47384339 +PA134990049 57474 HGNC:23705 ENSG00000188033 zinc finger protein 490 ZNF490 KIAA1198 Yes No Ensembl:ENSG00000188033, GeneCard:ZNF490, HGNC:HGNC:23705, ModBase:Q9ULM2, NCBI Gene:57474, RefSeq DNA:NT_011295, RefSeq Protein:NP_065765, RefSeq RNA:NM_020714, UniProtKB:Q9ULM2 No chr19 12686920 12721623 12576106 12610809 +PA134982286 126069 HGNC:23706 ENSG00000177599 zinc finger protein 491 ZNF491 FLJ34791 Yes No Ensembl:ENSG00000177599, GeneCard:ZNF491, HGNC:HGNC:23706, HumanCyc Gene:HS11189, ModBase:Q8N8L2, NCBI Gene:126069, RefSeq DNA:NT_011295, RefSeq Protein:NP_689569, RefSeq RNA:NM_152356, UniProtKB:Q8N8L2 No chr19 11909391 11919470 11798509 11809622 +PA134940205 57615 HGNC:23707 ENSG00000229676 zinc finger protein 492 ZNF492 KIAA1473, ZNF115 Yes No Ensembl:ENSG00000229676, GeneCard:ZNF492, HGNC:HGNC:23707, ModBase:Q9P255, NCBI Gene:57615, RefSeq DNA:NT_011295, RefSeq Protein:NP_065906, RefSeq RNA:NM_020855, UniProtKB:Q9P255 No chr19 22817126 22850472 22634324 22667670 +PA134932599 284443 HGNC:23708 ENSG00000196268 zinc finger protein 493 ZNF493 FLJ36504 Yes No Ensembl:ENSG00000196268, GeneCard:ZNF493, HGNC:HGNC:23708, ModBase:Q6ZR52, NCBI Gene:284443, RefSeq DNA:NT_011295, RefSeq Protein:NP_001070146, RefSeq Protein:NP_663299, RefSeq Protein:NP_787106, RefSeq RNA:NM_001076678, RefSeq RNA:NM_145326, RefSeq RNA:NM_175910, UniProtKB:Q6ZR52, UniProtKB:Q9BR99 No chr19 21579921 21610297 21397119 21427495 +PA134888470 84838 HGNC:23713 ENSG00000162714 zinc finger protein 496 ZNF496 MGC15548, ZKSCAN17, ZSCAN49 Yes No Ensembl:ENSG00000162714, GeneCard:ZNF496, HGNC:HGNC:23713, HumanCyc Gene:HS08726, ModBase:Q96IT1, NCBI Gene:84838, RefSeq DNA:NT_167186, RefSeq Protein:NP_116141, RefSeq RNA:NM_032752, UniProtKB:Q96IT1 No chr1 247460717 247495294 247297413 247333376 +PA134994387 162968 HGNC:23714 ENSG00000174586 zinc finger protein 497 ZNF497 FLJ44773 Yes No Ensembl:ENSG00000174586, GeneCard:ZNF497, HGNC:HGNC:23714, ModBase:Q6ZNH5, NCBI Gene:162968, RefSeq DNA:NT_011109, RefSeq Protein:NP_001193938, RefSeq Protein:NP_940860, RefSeq RNA:NM_001207009, RefSeq RNA:NM_198458, UniProtKB:Q6ZNH5 No chr19 58865723 58874214 58354357 58362848 +PA134969305 26048 HGNC:23716 ENSG00000103199 zinc finger protein 500 ZNF500 KIAA0557, ZKSCAN18, ZSCAN50 Yes No Comparative Toxicogenomics Database:26048, Ensembl:ENSG00000103199, GeneCard:ZNF500, HGNC:HGNC:23716, ModBase:O60304, NCBI Gene:26048, RefSeq DNA:NT_010393, RefSeq Protein:NP_067678, RefSeq RNA:NM_021646, UniProtKB:O60304 No chr16 4800815 4817219 4745961 4767219 +PA134959192 115560 HGNC:23717 ENSG00000186446 zinc finger protein 501 ZNF501 MGC21738, ZNF52 Yes No Ensembl:ENSG00000186446, GenAtlas:ZNF501, GeneCard:ZNF501, HGNC:HGNC:23717, HumanCyc Gene:HS10047, ModBase:Q96CX3, NCBI Gene:115560, RefSeq DNA:NT_022517, RefSeq Protein:NP_659481, RefSeq RNA:NM_145044, UniProtKB:Q96CX3 No chr3 44771098 44778575 44729606 44737083 +PA134866656 91392 HGNC:23718 ENSG00000196653 zinc finger protein 502 ZNF502 FLJ12515, FLJ14855 Yes No Ensembl:ENSG00000196653, GeneCard:ZNF502, HGNC:HGNC:23718, HumanCyc Gene:HS08527, ModBase:Q8TBZ5, NCBI Gene:91392, RefSeq DNA:NT_022517, RefSeq Protein:NP_001127912, RefSeq Protein:NP_001127913, RefSeq Protein:NP_001127914, RefSeq Protein:NP_149987, RefSeq RNA:NM_001134440, RefSeq RNA:NM_001134441, RefSeq RNA:NM_001134442, RefSeq RNA:NM_033210, UniProtKB:Q8TBZ5 No chr3 44754135 44765323 44712643 44723831 +PA134904334 84858 HGNC:23589 ENSG00000165655 zinc finger protein 503 ZNF503 FLJ45745, MGC2555, Nlz2 Yes No Ensembl:ENSG00000165655, GeneCard:ZNF503, HGNC:HGNC:23589, HumanCyc Gene:HS15349, ModBase:Q96F45, NCBI Gene:84858, RefSeq DNA:NT_030059, RefSeq Protein:NP_116161, RefSeq RNA:NM_032772, UniProtKB:Q96F45 No chr10 77157602 77161513 75279726 75401894 +PA165548984 100131213 HGNC:23525 ENSG00000237149 ZNF503 antisense RNA 2 ZNF503-AS2 Yes No Ensembl:ENSG00000237149, GeneCard:NCRNA00245, HGNC:HGNC:23525, NCBI Gene:100131213, RefSeq DNA:NT_008583, RefSeq DNA:NT_030059, RefSeq Protein:XP_001716052, RefSeq Protein:XP_001716327, RefSeq Protein:XP_001716745, RefSeq RNA:NR_024421, RefSeq RNA:NR_024422, RefSeq RNA:XM_001716000, RefSeq RNA:XM_001716275, RefSeq RNA:XM_001716693, RefSeq RNA:XM_210876, RefSeq RNA:XM_944126 No chr10 77161286 77168740 75401528 75408982 +PA134884301 440515 HGNC:23780 ENSG00000081665 zinc finger protein 506 ZNF506 DKFZp761G1812 Yes No Ensembl:ENSG00000081665, GeneCard:ZNF506, HGNC:HGNC:23780, ModBase:Q5JVG8, NCBI Gene:440515, RefSeq DNA:NT_011295, RefSeq Protein:NP_001092739, RefSeq Protein:NP_001138876, RefSeq RNA:NM_001099269, RefSeq RNA:NM_001145404, UniProtKB:Q5JVG8 No chr19 19896648 19932560 19792711 19821751 +PA134917055 22847 HGNC:23783 ENSG00000168813 zinc finger protein 507 ZNF507 KIAA1084, Zfp507 Yes No Ensembl:ENSG00000168813, GeneCard:ZNF507, HGNC:HGNC:23783, HumanCyc Gene:HS09828, ModBase:Q8TCN5, NCBI Gene:22847, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129628, RefSeq Protein:NP_055725, RefSeq RNA:NM_001136156, RefSeq RNA:NM_014910, UniProtKB:Q8TCN5 No chr19 32836514 32878573 32345608 32387667 +PA134944603 22869 HGNC:29161 ENSG00000081386 zinc finger protein 510 ZNF510 KIAA0972 Yes No Comparative Toxicogenomics Database:22869, Ensembl:ENSG00000081386, GeneCard:ZNF510, HGNC:HGNC:29161, HumanCyc Gene:HS01396, ModBase:Q9Y2H8, NCBI Gene:22869, RefSeq DNA:NT_008470, RefSeq Protein:NP_055745, RefSeq RNA:NM_014930, UniProtKB:Q5SZP5, UniProtKB:Q9Y2H8 No chr9 99518147 99540401 96754549 96778549 +PA134940031 118472 HGNC:28445 ENSG00000198546 zinc finger protein 511 ZNF511 MGC30006, Zfp511 Yes No Ensembl:ENSG00000198546, GeneCard:ZNF511, HGNC:HGNC:28445, NCBI Gene:118472, RefSeq DNA:NT_008818, RefSeq Protein:NP_665805, RefSeq RNA:NM_145806, UniProtKB:Q8NB15 No chr10 135122421 135126666 133308889 133313162 +PA134896861 84450 HGNC:29380 ENSG00000243943 zinc finger protein 512 ZNF512 KIAA1805 Yes No Ensembl:ENSG00000243943, GeneCard:ZNF512, HGNC:HGNC:29380, NCBI Gene:84450, RefSeq DNA:NT_022184, RefSeq Protein:NP_115810, RefSeq RNA:NM_032434, UniProtKB:Q96ME7 No chr2 27805836 27846082 27582969 27623215 +PA162410181 57473 HGNC:29212 ENSG00000196700 zinc finger protein 512B ZNF512B GM632, MGC149845, MGC149846 Yes No Ensembl:ENSG00000196700, GeneCard:ZNF512B, HGNC:HGNC:29212, ModBase:Q96KM6, NCBI Gene:57473, RefSeq DNA:NT_011333, RefSeq Protein:NP_065764, RefSeq RNA:NM_020713, UniProtKB:Q96KM6 No chr20 62588057 62601223 63956703 63969870 +PA134872812 130557 HGNC:26498 ENSG00000163795 zinc finger protein 513 ZNF513 FLJ32203, RP58, Zfp513 Yes No Ensembl:ENSG00000163795, GeneCard:ZNF513, HGNC:HGNC:26498, HumanCyc Gene:HS15108, ModBase:Q8N8E2, NCBI Gene:130557, RefSeq DNA:NT_022184, RefSeq Protein:NP_001188388, RefSeq Protein:NP_653232, RefSeq RNA:NM_001201459, RefSeq RNA:NM_144631, UniProtKB:Q8N8E2 No chr2 27600098 27603733 27377231 27380866 +PA134978837 84874 HGNC:25894 ENSG00000144026 zinc finger protein 514 ZNF514 FLJ14457 Yes No Ensembl:ENSG00000144026, GeneCard:ZNF514, HGNC:HGNC:25894, HumanCyc Gene:HS07136, ModBase:Q96K75, NCBI Gene:84874, RefSeq DNA:NT_022171, RefSeq Protein:NP_116177, RefSeq RNA:NM_032788, UniProtKB:Q96K75 No chr2 95813400 95825322 95122987 95165187 +PA134992707 9658 HGNC:28990 ENSG00000101493 zinc finger protein 516 ZNF516 HsT287, KIAA0222 Yes No Ensembl:ENSG00000101493, GeneCard:ZNF516, HGNC:HGNC:28990, HumanCyc Gene:HS02285, ModBase:Q92618, NCBI Gene:9658, RefSeq DNA:NT_025028, RefSeq Protein:NP_055458, RefSeq RNA:NM_014643, UniProtKB:Q2YDX2, UniProtKB:Q92618 No chr18 74069637 74207146 76357682 76495255 +PA134889443 340385 HGNC:27984 ENSG00000197363 zinc finger protein 517 ZNF517 Yes No Ensembl:ENSG00000197363, GeneCard:ZNF517, HGNC:HGNC:27984, ModBase:Q6ZMY9, NCBI Gene:340385, RefSeq DNA:NT_037704, RefSeq Protein:NP_998770, RefSeq RNA:NM_213605, UniProtKB:A0AV05, UniProtKB:Q6ZMY9 No chr8 146024261 146035461 144798876 144813033 +PA162410182 9849 HGNC:29009 ENSG00000177853 zinc finger protein 518A ZNF518A KIAA0335, ZNF518 Yes No Ensembl:ENSG00000177853, GeneCard:ZNF518A, HGNC:HGNC:29009, HumanCyc Gene:HS16937, ModBase:Q6AHZ1, NCBI Gene:9849, RefSeq DNA:NT_030059, RefSeq Protein:NP_055618, RefSeq RNA:NM_014803, UniProtKB:Q6AHZ1 No chr10 97889472 97923517 96129220 96165512 +PA162410199 85460 HGNC:29365 ENSG00000178163 zinc finger protein 518B ZNF518B KIAA1729 Yes No Ensembl:ENSG00000178163, GeneCard:ZNF518B, HGNC:HGNC:29365, ModBase:Q9C0D4, NCBI Gene:85460, RefSeq DNA:NT_006316, RefSeq Protein:NP_444270, RefSeq RNA:NM_053042, UniProtKB:Q9C0D4 No chr4 10441497 10459032 10439880 10457427 +PA134863605 162655 HGNC:30574 ENSG00000175322 zinc finger protein 519 ZNF519 similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1) FLJ36809, HsT2362 Yes No Ensembl:ENSG00000175322, GeneCard:ZNF519, HGNC:HGNC:30574, HumanCyc Gene:HS10911, ModBase:Q8TB69, NCBI Gene:162655, RefSeq DNA:NT_010859, RefSeq Protein:NP_660330, RefSeq RNA:NM_145287, RefSeq RNA:NR_033354, UniProtKB:Q8TB69 No chr18 14075989 14132489 14071230 14132494 +PA134956321 25925 HGNC:24605 ENSG00000198795 zinc finger protein 521 ZNF521 early hematopoietic zinc finger EHZF, Evi3 Yes No Ensembl:ENSG00000198795, GeneCard:ZNF521, HGNC:HGNC:24605, ModBase:Q96K83, NCBI Gene:25925, OMIM:610974, RefSeq DNA:NT_010966, RefSeq Protein:NP_056276, RefSeq RNA:NM_015461, UniProtKB:Q96K83 No chr18 22641888 22932214 25061924 25352250 +PA166352324 HGNC:30328 zinc finger protein 522 ZNF522 Yes No HGNC:HGNC:30328 No 0 0 0 0 +PA134981576 147807 HGNC:28322 ENSG00000171443 zinc finger protein 524 ZNF524 MGC23143 Yes No Ensembl:ENSG00000171443, GeneCard:ZNF524, HGNC:HGNC:28322, HumanCyc Gene:HS10305, ModBase:Q96C55, NCBI Gene:147807, RefSeq DNA:NT_011109, RefSeq Protein:NP_694951, RefSeq RNA:NM_153219, UniProtKB:Q96C55 No chr19 56111730 56114504 55599772 55603138 +PA134989094 170958 HGNC:29423 ENSG00000203326 zinc finger protein 525 ZNF525 KIAA1979 Yes No Ensembl:ENSG00000203326, GeneCard:ZNF525, HGNC:HGNC:29423, NCBI Gene:170958, RefSeq DNA:NT_011109, RefSeq RNA:NR_003699 No chr19 53868968 53889843 53365715 53386590 +PA134967668 116115 HGNC:29415 ENSG00000167625 zinc finger protein 526 ZNF526 KIAA1951, MGC4267 Yes No Ensembl:ENSG00000167625, GeneCard:ZNF526, HGNC:HGNC:29415, ModBase:Q8TF50, NCBI Gene:116115, RefSeq DNA:NT_011109, RefSeq Protein:NP_597701, RefSeq RNA:NM_133444, UniProtKB:Q8TF50 No chr19 42724492 42732353 42220271 42227053 +PA134973274 84503 HGNC:29385 ENSG00000189164 zinc finger protein 527 ZNF527 KIAA1829 Yes No Ensembl:ENSG00000189164, GeneCard:ZNF527, HGNC:HGNC:29385, ModBase:Q8NB42, NCBI Gene:84503, RefSeq DNA:NT_011109, RefSeq Protein:NP_115829, RefSeq RNA:NM_032453 No chr19 37862007 37883967 37371055 37393066 +PA134869369 84436 HGNC:29384 ENSG00000167555 zinc finger protein 528 ZNF528 KIAA1827 Yes No Ensembl:ENSG00000167555, GeneCard:ZNF528, HGNC:HGNC:29384, ModBase:Q3MIS6, NCBI Gene:84436, RefSeq DNA:NT_011109, RefSeq Protein:NP_115799, RefSeq RNA:NM_032423, UniProtKB:Q3MIS6 No chr19 52900771 52921661 52392771 52418408 +PA134910867 57711 HGNC:29328 ENSG00000186020 zinc finger protein 529 ZNF529 KIAA1615 Yes No Ensembl:ENSG00000186020, GeneCard:ZNF529, HGNC:HGNC:29328, ModBase:Q6P280, NCBI Gene:57711, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139121, RefSeq Protein:NP_001139122, RefSeq Protein:NP_066002, RefSeq RNA:NM_001145649, RefSeq RNA:NM_001145650, RefSeq RNA:NM_020951, RefSeq RNA:NR_027239, UniProtKB:Q6P280 No chr19 37034517 37096178 36534491 36605411 +PA134892909 348327 HGNC:29297 ENSG00000183647 zinc finger protein 530 ZNF530 KIAA1508 Yes No Ensembl:ENSG00000183647, GeneCard:ZNF530, HGNC:HGNC:29297, ModBase:Q6P9A1, NCBI Gene:348327, RefSeq DNA:NT_011109, RefSeq Protein:NP_065931, RefSeq RNA:NM_020880, UniProtKB:Q6P9A1 No chr19 58111253 58124090 57599877 57612722 +PA134901858 55205 HGNC:30940 ENSG00000074657 zinc finger protein 532 ZNF532 FLJ10697 Yes No Comparative Toxicogenomics Database:55205, Ensembl:ENSG00000074657, GeneCard:ZNF532, HGNC:HGNC:30940, HumanCyc Gene:HS12227, ModBase:Q9HCE3, NCBI Gene:55205, RefSeq DNA:NT_025028, RefSeq Protein:NP_060651, RefSeq RNA:NM_018181, UniProtKB:B3KXW2, UniProtKB:Q9HCE3 No chr18 56529832 56653709 58862600 58986480 +PA134911920 147658 HGNC:26337 ENSG00000198633 zinc finger protein 534 ZNF534 FLJ25344, KRBO3 Yes No Ensembl:ENSG00000198633, GeneCard:ZNF534, HGNC:HGNC:26337, NCBI Gene:147658, RefSeq DNA:NT_011109, RefSeq Protein:NP_001137410, RefSeq Protein:NP_001137411, RefSeq RNA:NM_001143938, RefSeq RNA:NM_001143939, UniProtKB:Q76KX8 No chr19 52932394 52942720 52431414 52451939 +PA134920047 9745 HGNC:29025 ENSG00000198597 zinc finger protein 536 ZNF536 KIAA0390 Yes Yes Ensembl:ENSG00000198597, GeneCard:ZNF536, HGNC:HGNC:29025, ModBase:O15090, NCBI Gene:9745, RefSeq DNA:NT_011109, RefSeq Protein:NP_055532, RefSeq RNA:NM_014717, UniProtKB:O15090 No chr19 30863328 31048966 30224236 30713538 +PA134980975 163255 HGNC:25331 ENSG00000171817 zinc finger protein 540 ZNF540 DKFZp547B0714 Yes No Ensembl:ENSG00000171817, GeneCard:ZNF540, HGNC:HGNC:25331, HumanCyc Gene:HS10389, ModBase:Q8NDQ6, NCBI Gene:163255, RefSeq DNA:NT_011109, RefSeq Protein:NP_001165696, RefSeq Protein:NP_001165697, RefSeq Protein:NP_689819, RefSeq RNA:NM_001172225, RefSeq RNA:NM_001172226, RefSeq RNA:NM_152606, UniProtKB:Q05D58, UniProtKB:Q8NDQ6 No chr19 38042273 38105080 37551371 37614179 +PA134941115 84215 HGNC:25294 ENSG00000118156 zinc finger protein 541 ZNF541 DKFZp434I1930 Yes No Ensembl:ENSG00000118156, GeneCard:ZNF541, HGNC:HGNC:25294, HumanCyc Gene:HS04193, NCBI Gene:84215, RefSeq DNA:NT_011109, RefSeq Protein:NP_001094889, RefSeq RNA:NM_001101419, UniProtKB:Q9H0D2 No chr19 48023942 48075994 47520685 47573248 +PA166180259 147947 HGNC:25393 ENSG00000240225 zinc finger protein 542, pseudogene ZNF542P DKFZp686B2197, ZNF542 Yes No Ensembl:ENSG00000240225, HGNC:HGNC:25393, NCBI Gene:147947 No chr19 56879468 56891197 56368099 56379828 +PA134914064 125919 HGNC:25281 ENSG00000178229 zinc finger protein 543 ZNF543 DKFZp434H055 Yes No Ensembl:ENSG00000178229, GeneCard:ZNF543, HGNC:HGNC:25281, NCBI Gene:125919, RefSeq DNA:NT_011109, RefSeq Protein:NP_998763, RefSeq RNA:NM_213598, UniProtKB:Q08ER8 No chr19 57831865 57842144 57320497 57330776 +PA134871299 27300 HGNC:16759 ENSG00000198131 zinc finger protein 544 ZNF544 zinc finger protein AF020591 AF020591 Yes No Ensembl:ENSG00000198131, GeneCard:ZNF544, HGNC:HGNC:16759, HumanCyc Gene:HS06879, ModBase:Q6NX49, NCBI Gene:27300, RefSeq DNA:NT_011109, RefSeq Protein:NP_055295, RefSeq RNA:NM_014480, UniProtKB:Q6NX49 No chr19 58739960 58788923 58228681 58277497 +PA134881362 339327 HGNC:28671 ENSG00000187187 zinc finger protein 546 ZNF546 MGC43537, ZNF49 Yes No Ensembl:ENSG00000187187, GenAtlas:ZNF546, GeneCard:ZNF546, HGNC:HGNC:28671, ModBase:Q86UE3, NCBI Gene:339327, RefSeq DNA:NT_011109, RefSeq Protein:NP_848639, RefSeq RNA:NM_178544, UniProtKB:B3KVL3, UniProtKB:Q86UE3 No chr19 40502943 40523514 39995609 40021041 +PA134931565 284306 HGNC:26432 ENSG00000152433 zinc finger protein 547 ZNF547 FLJ31100 Yes No Ensembl:ENSG00000152433, GeneCard:ZNF547, HGNC:HGNC:26432, HumanCyc Gene:HS07815, ModBase:Q8IVP9, NCBI Gene:284306, RefSeq DNA:NT_011109, RefSeq Protein:NP_775902, RefSeq RNA:NM_173631, UniProtKB:Q8IVP9 No chr19 57874891 57890927 57363435 57379559 +PA134889718 147694 HGNC:26561 ENSG00000188785 zinc finger protein 548 ZNF548 FLJ32932 Yes No Ensembl:ENSG00000188785, GeneCard:ZNF548, HGNC:HGNC:26561, HumanCyc Gene:HS07816, ModBase:Q8NEK5, NCBI Gene:147694, RefSeq DNA:NT_011109, RefSeq Protein:NP_001166244, RefSeq Protein:NP_690873, RefSeq RNA:NM_001172773, RefSeq RNA:NM_152909, UniProtKB:Q8NEK5 No chr19 57901218 57913919 57389850 57403497 +PA134905435 256051 HGNC:26632 ENSG00000121406 zinc finger protein 549 ZNF549 FLJ34917 Yes No Ensembl:ENSG00000121406, GeneCard:ZNF549, HGNC:HGNC:26632, HumanCyc Gene:HS04494, ModBase:Q6P9A3, NCBI Gene:256051, RefSeq DNA:NT_011109, RefSeq Protein:NP_001186224, RefSeq Protein:NP_694995, RefSeq RNA:NM_001199295, RefSeq RNA:NM_153263, UniProtKB:Q6P9A3 No chr19 58038693 58052244 57527321 57540876 +PA134937679 162972 HGNC:28643 ENSG00000251369 zinc finger protein 550 ZNF550 MGC41917 Yes No Ensembl:ENSG00000251369, GeneCard:ZNF550, HGNC:HGNC:28643, HumanCyc Gene:HS02677, ModBase:Q7Z398, NCBI Gene:162972, RefSeq DNA:NT_011109, RefSeq Protein:NP_001034743, RefSeq RNA:NM_001039654, UniProtKB:Q7Z398 No chr19 58053204 58071231 57541836 57561512 +PA134993781 90233 HGNC:25108 ENSG00000204519 zinc finger protein 551 ZNF551 DKFZp686H1038 Yes No Ensembl:ENSG00000204519, GeneCard:ZNF551, HGNC:HGNC:25108, HumanCyc Gene:HS07818, NCBI Gene:90233, RefSeq DNA:NT_011109, RefSeq Protein:NP_612356, RefSeq RNA:NM_138347, UniProtKB:Q7Z340 No chr19 58193337 58201179 57681969 57689811 +PA134986961 79818 HGNC:26135 ENSG00000178935 zinc finger protein 552 ZNF552 FLJ21603 Yes No Ensembl:ENSG00000178935, GeneCard:ZNF552, HGNC:HGNC:26135, HumanCyc Gene:HS17160, ModBase:Q9H707, NCBI Gene:79818, RefSeq DNA:NT_011109, RefSeq Protein:NP_079038, RefSeq RNA:NM_024762, UniProtKB:Q9H707 No chr19 58318450 58326529 57807082 57814913 +PA134915990 115196 HGNC:26629 ENSG00000172006 zinc finger protein 554 ZNF554 FLJ34817 Yes No Ensembl:ENSG00000172006, GeneCard:ZNF554, HGNC:HGNC:26629, HumanCyc Gene:HS10431, ModBase:Q86TJ5, NCBI Gene:115196, RefSeq DNA:NT_011255, RefSeq Protein:NP_001096121, RefSeq RNA:NM_001102651, UniProtKB:B3KNM4, UniProtKB:Q86TJ5 No chr19 2819872 2836733 2819874 2836735 +PA134956715 148254 HGNC:28382 ENSG00000186300 zinc finger protein 555 ZNF555 MGC26707 Yes No Ensembl:ENSG00000186300, GeneCard:ZNF555, HGNC:HGNC:28382, ModBase:Q8NEP9, NCBI Gene:148254, RefSeq DNA:NT_011255, RefSeq Protein:NP_001166246, RefSeq Protein:NP_690004, RefSeq RNA:NM_001172775, RefSeq RNA:NM_152791, UniProtKB:Q8NEP9 No chr19 2841433 2860472 2841435 2860484 +PA134949188 80032 HGNC:25669 ENSG00000172000 zinc finger protein 556 ZNF556 FLJ11637 Yes No Ensembl:ENSG00000172000, GeneCard:ZNF556, HGNC:HGNC:25669, HumanCyc Gene:HS10429, ModBase:Q9HAH1, NCBI Gene:80032, RefSeq DNA:NT_011255, RefSeq Protein:NP_079243, RefSeq RNA:NM_024967, UniProtKB:Q9HAH1 No chr19 2867333 2878515 2867335 2878517 +PA134866521 79230 HGNC:28632 ENSG00000130544 zinc finger protein 557 ZNF557 MGC4054 Yes No Ensembl:ENSG00000130544, GeneCard:ZNF557, HGNC:HGNC:28632, HumanCyc Gene:HS05402, ModBase:Q8N988, NCBI Gene:79230, RefSeq DNA:NT_011255, RefSeq Protein:NP_001037852, RefSeq Protein:NP_001037853, RefSeq Protein:NP_077317, RefSeq RNA:NM_001044387, RefSeq RNA:NM_001044388, RefSeq RNA:NM_024341, UniProtKB:Q8N988 No chr19 7069471 7087979 7069460 7087968 +PA134899314 148156 HGNC:26422 ENSG00000167785 zinc finger protein 558 ZNF558 FLJ30932 Yes No Ensembl:ENSG00000167785, GeneCard:ZNF558, HGNC:HGNC:26422, HumanCyc Gene:HS09637, ModBase:Q96NG5, NCBI Gene:148156, RefSeq DNA:NT_011295, RefSeq Protein:NP_653294, RefSeq RNA:NM_144693, UniProtKB:Q96NG5 No chr19 8920250 8942972 8809576 8832304 +PA134891126 84527 HGNC:28197 ENSG00000188321 zinc finger protein 559 ZNF559 MGC13105 Yes No Comparative Toxicogenomics Database:84527, Ensembl:ENSG00000188321, GeneCard:ZNF559, HGNC:HGNC:28197, HumanCyc Gene:HS01683, ModBase:Q9BR84, NCBI Gene:84527, RefSeq DNA:NT_011295, RefSeq Protein:NP_001189335, RefSeq Protein:NP_001189336, RefSeq Protein:NP_001189337, RefSeq Protein:NP_001189338, RefSeq Protein:NP_001189339, RefSeq Protein:NP_001189340, RefSeq Protein:NP_001189341, RefSeq Protein:NP_115886, RefSeq RNA:NM_001202406, RefSeq RNA:NM_001202407, RefSeq RNA:NM_001202408, RefSeq RNA:NM_001202409, RefSeq RNA:NM_001202410, RefSeq RNA:NM_001202411, RefSeq RNA:NM_001202412, RefSeq RNA:NM_032497, UniProtKB:Q9BR84 No chr19 9434448 9461838 9323772 9343845 +PA134992071 147741 HGNC:26484 ENSG00000198028 zinc finger protein 560 ZNF560 FLJ31986 Yes No Ensembl:ENSG00000198028, GeneCard:ZNF560, HGNC:HGNC:26484, HumanCyc Gene:HS09639, ModBase:Q96MR9, NCBI Gene:147741, RefSeq DNA:NT_011295, RefSeq Protein:NP_689689, RefSeq RNA:NM_152476, UniProtKB:Q96MR9 No chr19 9577031 9609279 9445710 9506692 +PA134935834 93134 HGNC:28684 ENSG00000171469 zinc finger protein 561 ZNF561 MGC45408 Yes No Ensembl:ENSG00000171469, GeneCard:ZNF561, HGNC:HGNC:28684, HumanCyc Gene:HS10314, NCBI Gene:93134, RefSeq DNA:NT_011295, RefSeq Protein:NP_689502, RefSeq RNA:NM_152289, UniProtKB:Q8N587 No chr19 9718002 9731916 9607326 9621249 +PA134941707 54811 HGNC:25950 ENSG00000171466 zinc finger protein 562 ZNF562 FLJ20079 Yes No Comparative Toxicogenomics Database:54811, Ensembl:ENSG00000171466, GeneCard:ZNF562, HGNC:HGNC:25950, HumanCyc Gene:HS10312, ModBase:Q6V9R5, NCBI Gene:54811, RefSeq DNA:NT_011295, RefSeq Protein:NP_001123503, RefSeq Protein:NP_001123504, RefSeq Protein:NP_060126, RefSeq RNA:NM_001130031, RefSeq RNA:NM_001130032, RefSeq RNA:NM_017656, UniProtKB:Q6V9R5 No chr19 9759330 9785776 9648296 9675293 +PA134949077 147837 HGNC:30498 ENSG00000188868 zinc finger protein 563 ZNF563 FLJ34797 Yes No Ensembl:ENSG00000188868, GeneCard:ZNF563, HGNC:HGNC:30498, HumanCyc Gene:HS10277, ModBase:Q8TA94, NCBI Gene:147837, RefSeq DNA:NT_011295, RefSeq Protein:NP_660319, RefSeq RNA:NM_145276, UniProtKB:Q8TA94 No chr19 12428291 12444534 12317477 12347390 +PA134876070 163050 HGNC:31106 ENSG00000249709 zinc finger protein 564 ZNF564 MGC26914 Yes No Ensembl:ENSG00000249709, GeneCard:ZNF564, HGNC:HGNC:31106, HumanCyc Gene:HS09648, ModBase:Q8TBZ8, NCBI Gene:163050, RefSeq DNA:NT_011295, RefSeq Protein:NP_659413, RefSeq RNA:NM_144976, UniProtKB:Q8TBZ8 No chr19 12636184 12691789 12525370 12551542 +PA134970652 147929 HGNC:26726 ENSG00000196357 zinc finger protein 565 ZNF565 FLJ36991 Yes Yes Ensembl:ENSG00000196357, GeneCard:ZNF565, HGNC:HGNC:26726, HumanCyc Gene:HS10393, ModBase:Q8N9K5, NCBI Gene:147929, RefSeq DNA:NT_011109, RefSeq Protein:NP_001035939, RefSeq Protein:NP_689690, RefSeq RNA:NM_001042474, RefSeq RNA:NM_152477, UniProtKB:Q8N9K5 No chr19 36673187 36705986 36182060 36215084 +PA134977695 84924 HGNC:25919 ENSG00000186017 zinc finger protein 566 ZNF566 FLJ14779, MGC12515 Yes No Ensembl:ENSG00000186017, GeneCard:ZNF566, HGNC:HGNC:25919, ModBase:Q969W8, NCBI Gene:84924, RefSeq DNA:NT_011109, RefSeq Protein:NP_001138815, RefSeq Protein:NP_001138816, RefSeq Protein:NP_001138817, RefSeq Protein:NP_116227, RefSeq RNA:NM_001145343, RefSeq RNA:NM_001145344, RefSeq RNA:NM_001145345, RefSeq RNA:NM_032838, UniProtKB:B7ZL95, UniProtKB:Q969W8 No chr19 36936021 36980804 36445119 36489902 +PA134986394 163081 HGNC:28696 ENSG00000189042 zinc finger protein 567 ZNF567 MGC45586 Yes No Ensembl:ENSG00000189042, GeneCard:ZNF567, HGNC:HGNC:28696, HumanCyc Gene:HS10679, NCBI Gene:163081, RefSeq DNA:NT_011109, RefSeq Protein:NP_689816, RefSeq RNA:NM_152603, UniProtKB:Q8N184 No chr19 37178466 37212428 36666961 36723548 +PA134893477 374900 HGNC:25392 ENSG00000198453 zinc finger protein 568 ZNF568 DKFZp686B0797 Yes Yes Ensembl:ENSG00000198453, GeneCard:ZNF568, HGNC:HGNC:25392, ModBase:Q3ZCX4, NCBI Gene:374900, RefSeq DNA:NT_011109, RefSeq Protein:NP_001191764, RefSeq Protein:NP_001191765, RefSeq Protein:NP_001191766, RefSeq Protein:NP_001191767, RefSeq Protein:NP_001191768, RefSeq Protein:NP_940941, RefSeq RNA:NM_001204835, RefSeq RNA:NM_001204836, RefSeq RNA:NM_001204837, RefSeq RNA:NM_001204838, RefSeq RNA:NM_001204839, RefSeq RNA:NM_198539, UniProtKB:Q3ZCX4 No chr19 37407231 37488834 36916329 36997932 +PA134899564 148266 HGNC:24737 ENSG00000196437 zinc finger protein 569 ZNF569 FLJ32053, ZAP1, Zfp74 Yes No Ensembl:ENSG00000196437, GeneCard:ZNF569, HGNC:HGNC:24737, HumanCyc Gene:HS11499, ModBase:Q5MCW4, NCBI Gene:148266, RefSeq DNA:NT_011109, RefSeq Protein:NP_689697, RefSeq RNA:NM_152484, UniProtKB:Q5MCW4 No chr19 37901778 37960167 37411146 37469268 +PA37699 126295 HGNC:13125 ENSG00000171970 zinc finger protein 57 ZNF57 ZNF424 Yes No Ensembl:ENSG00000171970, GenAtlas:ZNF57, GeneCard:ZNF57, HGNC:HGNC:13125, ModBase:Q68EA5, NCBI Gene:126295, RefSeq DNA:NT_011255, RefSeq Protein:NP_775751, RefSeq RNA:NM_173480, UniProtKB:A5HJR3, UniProtKB:Q68EA5 No chr19 2900896 2918641 2900898 2918646 +PA134943423 148268 HGNC:26416 ENSG00000171827 zinc finger protein 570 ZNF570 FLJ30791 Yes No Ensembl:ENSG00000171827, GeneCard:ZNF570, HGNC:HGNC:26416, HumanCyc Gene:HS08582, ModBase:Q96NI8, NCBI Gene:148268, RefSeq DNA:NT_011109, RefSeq Protein:NP_653295, RefSeq RNA:NM_144694, UniProtKB:Q96NI8 No chr19 37958463 37976242 37467465 37488652 +PA134892585 51276 HGNC:25000 ENSG00000180479 zinc finger protein 571 ZNF571 HSPC059 Yes No Ensembl:ENSG00000180479, GeneCard:ZNF571, HGNC:HGNC:25000, HumanCyc Gene:HS10387, ModBase:Q7Z3V5, NCBI Gene:51276, RefSeq DNA:NT_011109, RefSeq Protein:NP_057620, RefSeq RNA:NM_016536, UniProtKB:Q7Z3V5 No chr19 38055155 38085673 37564253 37594830 +PA134924678 137209 HGNC:26758 ENSG00000180938 zinc finger protein 572 ZNF572 FLJ38002 Yes No Ensembl:ENSG00000180938, GeneCard:ZNF572, HGNC:HGNC:26758, HumanCyc Gene:HS11555, ModBase:Q7Z3I7, NCBI Gene:137209, RefSeq DNA:NT_008046, RefSeq Protein:NP_689625, RefSeq RNA:NM_152412, UniProtKB:Q7Z3I7 No chr8 125985539 125991631 124973297 124979389 +PA134883623 126231 HGNC:26420 ENSG00000189144 zinc finger protein 573 ZNF573 FLJ30921 Yes No Ensembl:ENSG00000189144, GeneCard:ZNF573, HGNC:HGNC:26420, ModBase:Q86YE8, NCBI Gene:126231, RefSeq DNA:NT_011109, RefSeq Protein:NP_001166160, RefSeq Protein:NP_001166161, RefSeq Protein:NP_001166162, RefSeq Protein:NP_001166163, RefSeq Protein:NP_689573, RefSeq RNA:NM_001172689, RefSeq RNA:NM_001172690, RefSeq RNA:NM_001172691, RefSeq RNA:NM_001172692, RefSeq RNA:NM_152360, UniProtKB:Q86YE8 No chr19 38229203 38270230 37738274 37779626 +PA134916492 64763 HGNC:26166 ENSG00000105732 zinc finger protein 574 ZNF574 FLJ22059 Yes No Ensembl:ENSG00000105732, GeneCard:ZNF574, HGNC:HGNC:26166, HumanCyc Gene:HS12603, ModBase:Q6ZN55, NCBI Gene:64763, RefSeq DNA:NT_011109, RefSeq Protein:NP_073589, RefSeq RNA:NM_022752, UniProtKB:Q6ZN55 No chr19 42579057 42585719 42068477 42081567 +PA134958979 284346 HGNC:27606 ENSG00000176472 zinc finger protein 575 ZNF575 FLJ32567 Yes No Ensembl:ENSG00000176472, GeneCard:ZNF575, HGNC:HGNC:27606, ModBase:Q86XF7, NCBI Gene:284346, RefSeq DNA:NT_011109, RefSeq Protein:NP_777605, RefSeq RNA:NM_174945, UniProtKB:Q86XF7 No chr19 44037244 44040290 43531805 43536138 +PA134950110 79177 HGNC:28357 ENSG00000124444 zinc finger protein 576 ZNF576 MGC2508 Yes No Ensembl:ENSG00000124444, GeneCard:ZNF576, HGNC:HGNC:28357, HumanCyc Gene:HS13129, ModBase:Q9H609, NCBI Gene:79177, RefSeq DNA:NT_011109, RefSeq Protein:NP_001138819, RefSeq Protein:NP_077303, RefSeq RNA:NM_001145347, RefSeq RNA:NM_024327, UniProtKB:Q9H609 No chr19 44100544 44104587 43596392 43600435 +PA134942499 84765 HGNC:28673 ENSG00000161551 zinc finger protein 577 ZNF577 MGC4400 Yes No Ensembl:ENSG00000161551, GeneCard:ZNF577, HGNC:HGNC:28673, HumanCyc Gene:HS08593, ModBase:Q9BSK1, NCBI Gene:84765, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129062, RefSeq Protein:NP_116068, RefSeq RNA:NM_001135590, RefSeq RNA:NM_001370452, RefSeq RNA:NM_032679, UniProtKB:A8K6Z7, UniProtKB:Q9BSK1 No chr19 52359056 52391229 51855803 51887976 +PA134936072 147660 HGNC:26449 ENSG00000258405 zinc finger protein 578 ZNF578 FLJ31384 Yes No Ensembl:ENSG00000258405, GeneCard:ZNF578, HGNC:HGNC:26449, HumanCyc Gene:HS09579, ModBase:Q96N58, NCBI Gene:147660, RefSeq DNA:NT_011109, RefSeq Protein:NP_001093164, RefSeq RNA:NM_001099694, UniProtKB:Q96N58 No chr19 52956829 53020131 52453514 52516878 +PA134930711 163033 HGNC:26646 ENSG00000218891 zinc finger protein 579 ZNF579 FLJ35453 Yes No Comparative Toxicogenomics Database:163033, Ensembl:ENSG00000218891, GeneCard:ZNF579, HGNC:HGNC:26646, HumanCyc Gene:HS17392, ModBase:Q8NAF0, NCBI Gene:163033, RefSeq DNA:NT_011109, RefSeq Protein:NP_689813, RefSeq RNA:NM_152600, UniProtKB:Q8NAF0 No chr19 56088891 56092211 55577078 55580845 +PA134867016 51157 HGNC:29473 ENSG00000213015 zinc finger protein 580 ZNF580 Yes No Ensembl:ENSG00000213015, GeneCard:ZNF580, HGNC:HGNC:29473, ModBase:Q9UK33, NCBI Gene:51157, RefSeq DNA:NT_011109, RefSeq Protein:NP_001156895, RefSeq Protein:NP_057286, RefSeq Protein:NP_996998, RefSeq RNA:NM_001163423, RefSeq RNA:NM_016202, RefSeq RNA:NM_207115, UniProtKB:Q9UK33 No chr19 56146361 56154836 55641026 55643470 +PA134899657 51545 HGNC:25017 ENSG00000171425 zinc finger protein 581 ZNF581 FLJ22550, HSPC189 Yes No Ensembl:ENSG00000171425, GeneCard:ZNF581, HGNC:HGNC:25017, HumanCyc Gene:HS15983, ModBase:Q9P0T4, NCBI Gene:51545, RefSeq DNA:NT_011109, RefSeq Protein:NP_057619, RefSeq RNA:NM_016535, UniProtKB:Q9P0T4 No chr19 56154986 56156989 55635028 55645623 +PA134989661 147948 HGNC:26421 ENSG00000018869 zinc finger protein 582 ZNF582 FLJ30927 Yes No Comparative Toxicogenomics Database:147948, Ensembl:ENSG00000018869, GeneCard:ZNF582, HGNC:HGNC:26421, HumanCyc Gene:HS10331, ModBase:Q96NG8, NCBI Gene:147948, RefSeq DNA:NT_011109, RefSeq Protein:NP_653291, RefSeq RNA:NM_144690, UniProtKB:Q96NG8 No chr19 56886595 56904970 56382751 56393601 +PA134982111 147949 HGNC:26427 ENSG00000198440 zinc finger protein 583 ZNF583 FLJ31030 Yes No Ensembl:ENSG00000198440, GeneCard:ZNF583, HGNC:HGNC:26427, HumanCyc Gene:HS08509, ModBase:Q96ND8, NCBI Gene:147949, RefSeq DNA:NT_011109, RefSeq Protein:NP_001153332, RefSeq Protein:NP_001153333, RefSeq Protein:NP_689691, RefSeq RNA:NM_001159860, RefSeq RNA:NM_001159861, RefSeq RNA:NM_152478, UniProtKB:Q96ND8 No chr19 56915383 56936400 56404014 56425031 +PA134968861 201514 HGNC:27318 ENSG00000171574 zinc finger protein 584 ZNF584 FLJ39899 Yes No Ensembl:ENSG00000171574, GeneCard:ZNF584, HGNC:HGNC:27318, HumanCyc Gene:HS10347, ModBase:Q8IVC4, NCBI Gene:201514, RefSeq DNA:NT_011109, RefSeq Protein:NP_775819, RefSeq RNA:NM_173548, UniProtKB:Q8IVC4 No chr19 58919245 58929694 58408171 58418327 +PA134905518 199704 HGNC:26305 ENSG00000196967 zinc finger protein 585A ZNF585A FLJ23765, Zfp27 Yes No Ensembl:ENSG00000196967, GeneCard:ZNF585A, HGNC:HGNC:26305, ModBase:Q6P3V2, NCBI Gene:199704, RefSeq DNA:NT_011109, RefSeq Protein:NP_689868, RefSeq Protein:NP_954577, RefSeq RNA:NM_152655, RefSeq RNA:NM_199126, UniProtKB:Q6P3V2 No chr19 37638340 37663643 37147438 37172741 +PA134925877 92285 HGNC:30948 ENSG00000245680 zinc finger protein 585B ZNF585B FLJ14928, SZFP41, Zfp27 Yes No Ensembl:ENSG00000245680, GeneCard:ZNF585B, HGNC:HGNC:30948, ModBase:Q52M93, NCBI Gene:92285, RefSeq DNA:NT_011109, RefSeq Protein:NP_689492, RefSeq RNA:NM_152279, UniProtKB:Q52M93 No chr19 37672481 37701632 37181579 37210549 +PA134946358 54807 HGNC:25949 ENSG00000083828 zinc finger protein 586 ZNF586 FLJ20070 Yes No Ensembl:ENSG00000083828, GeneCard:ZNF586, HGNC:HGNC:25949, HumanCyc Gene:HS01455, ModBase:Q9NXT0, NCBI Gene:54807, RefSeq DNA:NT_011109, RefSeq Protein:NP_001070894, RefSeq Protein:NP_001191743, RefSeq Protein:NP_060122, RefSeq RNA:NM_001077426, RefSeq RNA:NM_001204814, RefSeq RNA:NM_017652, UniProtKB:Q9NXT0 No chr19 58281020 58291984 57769652 57780616 +PA134940421 84914 HGNC:30955 ENSG00000198466 zinc finger protein 587 ZNF587 FLJ14710, FLJ20813, UBF-fl, ZF6 Yes No Ensembl:ENSG00000198466, GeneCard:ZNF587, HGNC:HGNC:30955, HumanCyc Gene:HS05580, ModBase:Q96SQ5, NCBI Gene:84914, RefSeq DNA:NT_011109, RefSeq Protein:NP_001191746, RefSeq Protein:NP_116217, RefSeq Protein:XP_002343703, RefSeq Protein:XP_002348025, RefSeq RNA:NM_001204817, RefSeq RNA:NM_032828, RefSeq RNA:XM_002343662, RefSeq RNA:XM_002347984, UniProtKB:Q96SQ5 No chr19 58331011 58379953 57849813 57865123 +PA166049021 100293516 HGNC:37142 ENSG00000269343 zinc finger protein 587B ZNF587B Yes No Ensembl:ENSG00000269343, HGNC:HGNC:37142, NCBI Gene:100293516 No chr19 58341427 58357606 57830294 57846238 +PA134988473 51385 HGNC:16747 ENSG00000164048 zinc finger protein 589 ZNF589 SZF1 Yes No Ensembl:ENSG00000164048, GeneCard:ZNF589, HGNC:HGNC:16747, HumanCyc Gene:HS08991, ModBase:Q86UQ0, NCBI Gene:51385, RefSeq DNA:NT_022517, RefSeq Protein:NP_057173, RefSeq RNA:NM_016089, UniProtKB:Q86UQ0 No chr3 48282596 48312480 48241022 48275293 +PA134918837 9640 HGNC:28986 ENSG00000166716 zinc finger protein 592 ZNF592 CAMOS, KIAA0211, SCAR5 Yes No Ensembl:ENSG00000166716, GeneCard:ZNF592, HGNC:HGNC:28986, HumanCyc Gene:HS09442, ModBase:Q92610, NCBI Gene:9640, RefSeq DNA:NT_010274, RefSeq Protein:NP_055445, RefSeq RNA:NM_014630, UniProtKB:Q92610 No chr15 85291818 85349663 84748556 84806432 +PA134962156 51042 HGNC:30943 ENSG00000142684 zinc finger protein 593 ZNF593 ZT86 Yes No Comparative Toxicogenomics Database:51042, Ensembl:ENSG00000142684, GeneCard:ZNF593, HGNC:HGNC:30943, HumanCyc Gene:HS06954, NCBI Gene:51042, RefSeq DNA:NT_004610, RefSeq Protein:NP_056955, RefSeq RNA:NM_015871, UniProtKB:O00488 No chr1 26496388 26497364 26169528 26170873 +PA166352325 118568799 HGNC:41278 ZNF593 opposite strand ZNF593OS ZNF593-AS Yes No HGNC:HGNC:41278, NCBI Gene:118568799 No 0 0 0 0 +PA134985995 84622 HGNC:29392 ENSG00000180626 zinc finger protein 594 ZNF594 KIAA1871 Yes No Ensembl:ENSG00000180626, GeneCard:ZNF594, HGNC:HGNC:29392, ModBase:Q96JF6, NCBI Gene:84622, RefSeq DNA:NT_010718, RefSeq Protein:NP_115919, RefSeq RNA:NM_032530, UniProtKB:Q6ZNC6, UniProtKB:Q96JF6 No chr17 5082830 5095178 5174021 5191894 +PA134868351 152687 HGNC:27196 ENSG00000272602 zinc finger protein 595 ZNF595 FLJ31740 Yes No Ensembl:ENSG00000272602, GeneCard:ZNF595, HGNC:HGNC:27196, ModBase:Q8IYB9, NCBI Gene:152687, RefSeq DNA:NT_037622, RefSeq Protein:NP_872330, RefSeq RNA:NM_182524 No chr4 53227 88099 53276 88211 +PA134901402 169270 HGNC:27268 ENSG00000172748 zinc finger protein 596 ZNF596 Yes No Ensembl:ENSG00000172748, GeneCard:ZNF596, HGNC:HGNC:27268, HumanCyc Gene:HS10562, ModBase:Q8TC21, NCBI Gene:169270, RefSeq DNA:NT_023736, RefSeq Protein:NP_001035880, RefSeq Protein:NP_001035881, RefSeq Protein:NP_775810, RefSeq RNA:NM_001042415, RefSeq RNA:NM_001042416, RefSeq RNA:NM_173539, UniProtKB:Q8TC21 No chr8 182200 197339 232137 247340 +PA134935893 146434 HGNC:26573 ENSG00000167981 zinc finger protein 597 ZNF597 FLJ33071, HIT-4 Yes No Ensembl:ENSG00000167981, GeneCard:ZNF597, HGNC:HGNC:26573, HumanCyc Gene:HS09672, ModBase:Q96LX8, NCBI Gene:146434, RefSeq DNA:NT_010393, RefSeq Protein:NP_689670, RefSeq RNA:NM_152457, UniProtKB:Q96LX8 No chr16 3486110 3493490 3432422 3443537 +PA134944505 90850 HGNC:28079 ENSG00000167962 zinc finger protein 598, E3 ubiquitin ligase ZNF598 zinc finger protein 598 FLJ00086, HEL2 Yes No Ensembl:ENSG00000167962, GeneCard:ZNF598, HGNC:HGNC:28079, ModBase:Q86UK7, NCBI Gene:90850, RefSeq DNA:NT_010393, RefSeq Protein:NP_835461, RefSeq RNA:NM_178167, UniProtKB:Q86UK7 No chr16 2047653 2059822 1997652 2009821 +PA134983786 148103 HGNC:26408 ENSG00000153896 zinc finger protein 599 ZNF599 FLJ30663 Yes No Ensembl:ENSG00000153896, GeneCard:ZNF599, HGNC:HGNC:26408, ModBase:Q96NL3, NCBI Gene:148103, RefSeq DNA:NT_011109, RefSeq Protein:NP_001007249, RefSeq RNA:NM_001007248, UniProtKB:Q96NL3 No chr19 35248979 35264134 34758074 34773229 +PA134977938 162966 HGNC:30951 ENSG00000189190 zinc finger protein 600 ZNF600 DKFZp686F06123, KR-ZNF1 Yes No Ensembl:ENSG00000189190, GeneCard:ZNF600, HGNC:HGNC:30951, ModBase:Q6ZNG1, NCBI Gene:162966, RefSeq DNA:NT_011109, RefSeq Protein:NP_940859, RefSeq RNA:NM_198457, UniProtKB:Q6ZNG1 No chr19 53268747 53290034 52764813 52786825 +PA134983457 493824 HGNC:29407 zinc finger protein 601, pseudogene ZNF601P D6S2711, PRD51p, dJ313I6.8 Yes No GeneCard:ZNF601P, HGNC:HGNC:29407, NCBI Gene:493824 No chr6 28064889 28065147 28097111 28097369 +PA134864337 100419608 HGNC:23313 ENSG00000219392 zinc finger protein 602, pseudogene ZNF602P dJ265C24.5 Yes No Ensembl:ENSG00000219392, GeneCard:ZNF602P, HGNC:HGNC:23313, NCBI Gene:100419608 No chr6 28083427 28083998 28115649 28116220 +PA134907577 493821 HGNC:23322 ENSG00000216901 zinc finger protein 603, pseudogene ZNF603P p373c6.7 Yes No Ensembl:ENSG00000216901, GeneCard:ZNF603P, HGNC:HGNC:23322, NCBI Gene:493821 No chr6 28143966 28144452 28176188 28176674 +PA134901606 100289635 HGNC:28068 ENSG00000196458 zinc finger protein 605 ZNF605 Yes No Ensembl:ENSG00000196458, GeneCard:ZNF605, HGNC:HGNC:28068, ModBase:Q86T29, NCBI Gene:100289635, RefSeq DNA:NT_024477, RefSeq Protein:NP_001158187, RefSeq Protein:NP_899061, RefSeq Protein:XP_002343269, RefSeq RNA:NM_001164715, RefSeq RNA:NM_183238, RefSeq RNA:XM_002343228, UniProtKB:B3KVG4, UniProtKB:Q86T29 No chr12 133498019 133532908 132921433 132956306 +PA134931984 80095 HGNC:25879 ENSG00000166704 zinc finger protein 606 ZNF606 FLJ14260, KIAA1852, ZNF328 Yes No Ensembl:ENSG00000166704, GeneCard:ZNF606, HGNC:HGNC:25879, ModBase:Q8WXB4, NCBI Gene:80095, RefSeq DNA:NT_011109, RefSeq Protein:NP_079303, RefSeq RNA:NM_025027, UniProtKB:P17014, UniProtKB:Q8WXB4, UniProtKB:Q9H7U2 No chr19 58488440 58514714 57977072 58003346 +PA134938252 84775 HGNC:28192 ENSG00000198182 zinc finger protein 607 ZNF607 FLJ14802, MGC13071 Yes No Ensembl:ENSG00000198182, GeneCard:ZNF607, HGNC:HGNC:28192, ModBase:Q96SK3, NCBI Gene:84775, RefSeq DNA:NT_011109, RefSeq Protein:NP_001166148, RefSeq Protein:NP_116078, RefSeq RNA:NM_001172677, RefSeq RNA:NM_032689, UniProtKB:Q96SK3 No chr19 38187264 38210691 37696363 37719790 +PA134945727 57507 HGNC:29238 ENSG00000168916 zinc finger protein 608 ZNF608 DKFZp434M098, KIAA1281, NY-REN-36 Yes No Ensembl:ENSG00000168916, GeneCard:ZNF608, HGNC:HGNC:29238, NCBI Gene:57507, RefSeq DNA:NT_034772, RefSeq Protein:NP_065798, RefSeq RNA:NM_020747, UniProtKB:B3KPE6, UniProtKB:Q9ULD9 No chr5 123972606 124084517 124636913 124748824 +PA134952302 23060 HGNC:29003 ENSG00000180357 zinc finger protein 609 ZNF609 KIAA0295 Yes No Ensembl:ENSG00000180357, GeneCard:ZNF609, HGNC:HGNC:29003, ModBase:O15014, NCBI Gene:23060, RefSeq DNA:NT_010194, RefSeq Protein:NP_055857, RefSeq RNA:NM_015042, UniProtKB:O15014 No chr15 64791619 64978267 64460350 64686068 +PA134963099 162963 HGNC:26687 ENSG00000167554 zinc finger protein 610 ZNF610 FLJ36040 Yes No Ensembl:ENSG00000167554, GeneCard:ZNF610, HGNC:HGNC:26687, HumanCyc Gene:HS10988, ModBase:Q8N9Z0, NCBI Gene:162963, RefSeq DNA:NT_011109, RefSeq Protein:NP_001154897, RefSeq Protein:NP_001154898, RefSeq Protein:NP_001154899, RefSeq Protein:NP_775801, RefSeq RNA:NM_001161425, RefSeq RNA:NM_001161426, RefSeq RNA:NM_001161427, RefSeq RNA:NM_173530, UniProtKB:Q8N9Z0 No chr19 52839498 52870376 52336245 52367123 +PA134988282 81856 HGNC:28766 ENSG00000213020 zinc finger protein 611 ZNF611 MGC5384 Yes No Ensembl:ENSG00000213020, GeneCard:ZNF611, HGNC:HGNC:28766, HumanCyc Gene:HS10982, ModBase:Q8N823, NCBI Gene:81856, RefSeq DNA:NT_011109, RefSeq Protein:NP_001154971, RefSeq Protein:NP_001154972, RefSeq Protein:NP_001154973, RefSeq Protein:NP_112234, RefSeq RNA:NM_001161499, RefSeq RNA:NM_001161500, RefSeq RNA:NM_001161501, RefSeq RNA:NM_030972, UniProtKB:Q8N823 No chr19 53206066 53238307 52702813 52735054 +PA134937067 79898 HGNC:25827 ENSG00000176024 zinc finger protein 613 ZNF613 FLJ13590 Yes Yes Ensembl:ENSG00000176024, GeneCard:ZNF613, HGNC:HGNC:25827, HumanCyc Gene:HS04693, NCBI Gene:79898, RefSeq DNA:NT_011109, RefSeq Protein:NP_001026891, RefSeq Protein:NP_079116, RefSeq RNA:NM_001031721, RefSeq RNA:NM_024840, UniProtKB:Q6PF04 No chr19 52430688 52449011 51927147 51946147 +PA134914044 80110 HGNC:24722 ENSG00000142556 zinc finger protein 614 ZNF614 FLJ21941 Yes No Ensembl:ENSG00000142556, GeneCard:ZNF614, HGNC:HGNC:24722, ModBase:Q8N883, NCBI Gene:80110, RefSeq DNA:NT_011109, RefSeq Protein:NP_079316, RefSeq RNA:NM_025040, UniProtKB:Q8N883 No chr19 52516577 52531680 52013324 52028427 +PA134872929 284370 HGNC:24740 ENSG00000197619 zinc finger protein 615 ZNF615 FLJ33710 Yes No Ensembl:ENSG00000197619, GeneCard:ZNF615, HGNC:HGNC:24740, ModBase:Q8N8J6, NCBI Gene:284370, RefSeq DNA:NT_011109, RefSeq Protein:NP_001186253, RefSeq Protein:NP_940882, RefSeq RNA:NM_001199324, RefSeq RNA:NM_198480, UniProtKB:Q8N8J6 No chr19 52494587 52511494 51991332 52008230 +PA134978923 90317 HGNC:28062 ENSG00000204611 zinc finger protein 616 ZNF616 MGC45556 Yes No Ensembl:ENSG00000204611, GeneCard:ZNF616, HGNC:HGNC:28062, NCBI Gene:90317, RefSeq DNA:NT_011109, RefSeq Protein:NP_848618, RefSeq RNA:NM_178523, UniProtKB:Q08AN1 No chr19 52616344 52643191 52113073 52139938 +PA31532 114991 HGNC:29416 ENSG00000157657 zinc finger protein 618 ZNF618 neural precursor cell expressed, developmentally down-regulated 10 KIAA1952, NEDD10 Yes No Comparative Toxicogenomics Database:4740, Ensembl:ENSG00000157657, GenAtlas:NEDD10, GeneCard:NEDD10, GeneCard:ZNF618, HGNC:HGNC:29416, ModBase:Q5T7W0, NCBI Gene:114991, RefSeq DNA:NT_008470, RefSeq Protein:NP_588615, RefSeq RNA:NM_133374, UniProtKB:Q5T7W0 No chr9 116638562 116818875 113876282 114056595 +PA134889198 285267 HGNC:26910 ENSG00000177873 zinc finger protein 619 ZNF619 FLJ90764 Yes No Ensembl:ENSG00000177873, GeneCard:ZNF619, HGNC:HGNC:26910, HumanCyc Gene:HS11224, ModBase:Q8N2I2, NCBI Gene:285267, RefSeq DNA:NT_022517, RefSeq Protein:NP_001138554, RefSeq Protein:NP_001138555, RefSeq Protein:NP_001138565, RefSeq Protein:NP_001138566, RefSeq Protein:NP_775927, RefSeq RNA:NM_001145082, RefSeq RNA:NM_001145083, RefSeq RNA:NM_001145093, RefSeq RNA:NM_001145094, RefSeq RNA:NM_001363277, RefSeq RNA:NM_173656, UniProtKB:B4E271, UniProtKB:D4PHA2 No chr3 40518604 40531728 40477113 40490237 +PA134942360 253639 HGNC:28742 ENSG00000177842 zinc finger protein 620 ZNF620 MGC50836 Yes No Ensembl:ENSG00000177842, GeneCard:ZNF620, HGNC:HGNC:28742, ModBase:Q6ZNG0, NCBI Gene:253639, RefSeq DNA:NT_022517, RefSeq Protein:NP_787084, RefSeq RNA:NM_175888, RefSeq RNA:NR_024114, UniProtKB:Q6ZNG0 No chr3 40547450 40559712 40502604 40518718 +PA134982950 285268 HGNC:24787 ENSG00000172888 zinc finger protein 621 ZNF621 FLJ45246 Yes No Ensembl:ENSG00000172888, GeneCard:ZNF621, HGNC:HGNC:24787, ModBase:Q6ZSS3, NCBI Gene:285268, RefSeq DNA:NT_022517, RefSeq Protein:NP_001091884, RefSeq Protein:NP_940886, RefSeq RNA:NM_001098414, RefSeq RNA:NM_198484, UniProtKB:Q6ZSS3 No chr3 40566376 40581043 40523854 40539794 +PA134992557 90441 HGNC:30958 ENSG00000173545 zinc finger protein 622 ZNF622 MGC17552, MGC2485, ZPR9 Yes No Ensembl:ENSG00000173545, GeneCard:ZNF622, HGNC:HGNC:30958, HumanCyc Gene:HS10687, ModBase:Q969S3, NCBI Gene:90441, OMIM:608694, RefSeq DNA:NT_006576, RefSeq Protein:NP_219482, RefSeq RNA:NM_033414, UniProtKB:Q969S3 No chr5 16451628 16465894 16451519 16465785 +PA134969295 9831 HGNC:29084 ENSG00000183309 zinc finger protein 623 ZNF623 KIAA0628 Yes No Ensembl:ENSG00000183309, GeneCard:ZNF623, HGNC:HGNC:29084, ModBase:O75123, NCBI Gene:9831, RefSeq DNA:NT_008046, RefSeq Protein:NP_001075949, RefSeq Protein:NP_055604, RefSeq RNA:NM_001082480, RefSeq RNA:NM_014789, UniProtKB:O75123 No chr8 144718183 144735900 143636013 143653730 +PA134977006 57547 HGNC:29254 ENSG00000197566 zinc finger protein 624 ZNF624 KIAA1349 Yes No Ensembl:ENSG00000197566, GeneCard:ZNF624, HGNC:HGNC:29254, ModBase:Q9P2J8, NCBI Gene:57547, RefSeq DNA:NT_010718, RefSeq Protein:NP_065838, RefSeq RNA:NM_020787, UniProtKB:Q9P2J8 No chr17 16524048 16557167 16620734 16655210 +PA134911932 90589 HGNC:30571 ENSG00000257591 zinc finger protein 625 ZNF625 Yes No Ensembl:ENSG00000257591, GeneCard:ZNF625, HGNC:HGNC:30571, HumanCyc Gene:HS08532, ModBase:Q96I27, NCBI Gene:90589, RefSeq DNA:NT_011295, RefSeq Protein:NP_660276, RefSeq RNA:NM_145233, RefSeq RNA:NR_037801, UniProtKB:Q96I27 No chr19 12255705 12267546 12144890 12156731 +PA134875370 199777 HGNC:30461 ENSG00000188171 zinc finger protein 626 ZNF626 Yes No Ensembl:ENSG00000188171, GeneCard:ZNF626, HGNC:HGNC:30461, HumanCyc Gene:HS08488, ModBase:Q68DY1, NCBI Gene:199777, RefSeq DNA:NT_011295, RefSeq Protein:NP_001070143, RefSeq Protein:NP_660340, RefSeq RNA:NM_001076675, RefSeq RNA:NM_145297, UniProtKB:Q68DY1, UniProtKB:Q96QM1 No chr19 20802745 20844402 20619939 20661596 +PA134903355 199692 HGNC:30570 ENSG00000198551 zinc finger protein 627 ZNF627 FLJ90365 Yes No Ensembl:ENSG00000198551, GeneCard:ZNF627, HGNC:HGNC:30570, ModBase:Q7L945, NCBI Gene:199692, OMIM:612248, RefSeq DNA:NT_011295, RefSeq Protein:NP_660338, RefSeq RNA:NM_145295, UniProtKB:Q7L945 No chr19 11708235 11729974 11575255 11619159 +PA142670507 89887 HGNC:28054 ENSG00000197483 zinc finger protein 628 ZNF628 Zinc finger expressed in Embryonal cells and Certain adult organs ZEC, Zfp628 Yes No Ensembl:ENSG00000197483, GeneCard:ZNF628, HGNC:HGNC:28054, ModBase:Q5EBL2, NCBI Gene:89887, OMIM:610671, RefSeq DNA:NT_011109, RefSeq Protein:NP_149104, RefSeq RNA:NM_033113, UniProtKB:Q5EBL2 No chr19 55987699 55995854 55476332 55484487 +PA134930939 23361 HGNC:29008 ENSG00000102870 zinc finger protein 629 ZNF629 KIAA0326, ZNF65 Yes No Ensembl:ENSG00000102870, GenAtlas:ZNF629, GeneCard:ZNF629, HGNC:HGNC:29008, ModBase:Q9UEG4, NCBI Gene:23361, RefSeq DNA:NT_010393, RefSeq Protein:NP_001073886, RefSeq RNA:NM_001080417, UniProtKB:Q9UEG4 No chr16 30789770 30798564 30778449 30787322 +PA134889031 57232 HGNC:28855 ENSG00000221994 zinc finger protein 630 ZNF630 BC037316, FLJ20573, MGC138344, dJ54B20.2 Yes No Ensembl:ENSG00000221994, GeneCard:ZNF630, HGNC:HGNC:28855, ModBase:Q2M218, NCBI Gene:57232, OMIM:300819, RefSeq DNA:NG_022889, RefSeq DNA:NT_079573, RefSeq Protein:NP_001032824, RefSeq Protein:NP_001177184, RefSeq RNA:NM_001037735, RefSeq RNA:NM_001190255, RefSeq RNA:NR_033730, UniProtKB:Q2M218 No chrX 47917567 47931025 48058178 48071658 +PA134983478 27332 HGNC:17894 ENSG00000075292 zinc finger protein 638 ZNF638 MGC26130, NP220, ZFML, Zfp638 Yes No Ensembl:ENSG00000075292, GeneCard:ZNF638, HGNC:HGNC:17894, HumanCyc Gene:HS01170, ModBase:Q9H2G1, NCBI Gene:27332, RefSeq DNA:NT_022184, RefSeq Protein:NP_001014972, RefSeq Protein:NP_055312, RefSeq RNA:NM_001014972, RefSeq RNA:NM_014497, UniProtKB:Q14966 No chr2 71503729 71662191 71276543 71435061 +PA134990796 51193 HGNC:30950 ENSG00000121864 zinc finger protein 639 ZNF639 zinc finger amplified in esophageal squamous cell carcinomas 1 ANC-2H01, ZASC1 Yes No Ensembl:ENSG00000121864, GeneCard:ZNF639, HGNC:HGNC:30950, HumanCyc Gene:HS13029, ModBase:Q9UID6, NCBI Gene:51193, RefSeq DNA:NT_005612, RefSeq Protein:NP_057415, RefSeq RNA:NM_016331, UniProtKB:Q9UID6 No chr3 179041551 179053325 179322910 179335535 +PA142670508 121274 HGNC:31834 ENSG00000167528 zinc finger protein 641 ZNF641 FLJ31295 Yes No Comparative Toxicogenomics Database:121274, Ensembl:ENSG00000167528, GeneCard:ZNF641, HGNC:HGNC:31834, HumanCyc Gene:HS09570, ModBase:Q96N77, NCBI Gene:121274, RefSeq DNA:NT_029419, RefSeq Protein:NP_001166152, RefSeq Protein:NP_001166153, RefSeq Protein:NP_689533, RefSeq RNA:NM_001172681, RefSeq RNA:NM_001172682, RefSeq RNA:NM_152320, UniProtKB:B3KS43, UniProtKB:B4DNU5, UniProtKB:Q96N77 No chr12 48729065 48745029 48334380 48351414 +PA134984168 84146 HGNC:29222 ENSG00000122482 zinc finger protein 644 ZNF644 BM-005, KIAA1221, MGC60165, MGC70410 Yes No Ensembl:ENSG00000122482, GeneCard:ZNF644, HGNC:HGNC:29222, ModBase:Q9H582, NCBI Gene:84146, RefSeq DNA:NT_032977, RefSeq Protein:NP_057704, RefSeq Protein:NP_115562, RefSeq Protein:NP_958357, RefSeq RNA:NM_016620, RefSeq RNA:NM_032186, RefSeq RNA:NM_201269, RefSeq RNA:XR_110475, UniProtKB:Q9H582, UniProtKB:Q9H835 No chr1 91380855 91487812 90915298 91022269 +PA134955953 9726 HGNC:29004 ENSG00000167395 zinc finger protein 646 ZNF646 KIAA0296 Yes No Ensembl:ENSG00000167395, GeneCard:ZNF646, HGNC:HGNC:29004, HumanCyc Gene:HS09556, ModBase:O15015, NCBI Gene:9726, RefSeq DNA:NT_010393, RefSeq Protein:NP_055514, RefSeq RNA:NM_014699, UniProtKB:Q8IVD8 No chr16 31085581 31094833 31073773 31083512 +PA134974398 127665 HGNC:18190 ENSG00000179930 zinc finger protein 648 ZNF648 FLJ46813 Yes No Ensembl:ENSG00000179930, GeneCard:ZNF648, HGNC:HGNC:18190, ModBase:Q5T619, NCBI Gene:127665, RefSeq DNA:NT_004487, RefSeq Protein:NP_001009992, RefSeq RNA:NM_001009992, UniProtKB:Q5T619 No chr1 182023705 182030847 182053740 182205330 +PA143485678 65251 HGNC:25741 ENSG00000198093 zinc finger protein 649 ZNF649 FLJ12644 Yes No Ensembl:ENSG00000198093, GeneCard:ZNF649, HGNC:HGNC:25741, ModBase:Q9BS31, NCBI Gene:65251, OMIM:611903, RefSeq DNA:NT_011109, RefSeq Protein:NP_075562, RefSeq RNA:NM_023074, UniProtKB:Q9BS31 No chr19 52392488 52408305 51889235 51905052 +PA134896615 22834 HGNC:29147 ENSG00000198740 zinc finger protein 652 ZNF652 KIAA0924 Yes Yes Comparative Toxicogenomics Database:22834, Ensembl:ENSG00000198740, GeneCard:ZNF652, HGNC:HGNC:29147, ModBase:Q9Y2D9, NCBI Gene:22834, RefSeq DNA:NT_010783, RefSeq Protein:NP_001138837, RefSeq Protein:NP_055712, RefSeq RNA:NM_001145365, RefSeq RNA:NM_014897, UniProtKB:A8K9F2, UniProtKB:Q9Y2D9 No chr17 47366568 47439835 49289206 49362473 +PA164727745 646592 HGNC:35166 ENSG00000235278 zinc finger protein 652 pseudogene 1 ZNF652P1 Yes No Ensembl:ENSG00000235278, HGNC:HGNC:35166, NCBI Gene:646592, RefSeq DNA:NT_022517, RefSeq Protein:XP_934621, RefSeq RNA:XM_929528 No chr3 50823686 50826127 50786255 50788696 +PA134989597 115950 HGNC:25196 ENSG00000161914 zinc finger protein 653 ZNF653 Zip67 Yes No Ensembl:ENSG00000161914, GeneCard:ZNF653, HGNC:HGNC:25196, HumanCyc Gene:HS08622, ModBase:Q96CK0, NCBI Gene:115950, OMIM:611371, RefSeq DNA:NT_011295, RefSeq Protein:NP_620138, RefSeq RNA:NM_138783, UniProtKB:Q96CK0 No chr19 11594242 11616738 11483427 11505923 +PA134923001 55279 HGNC:25612 ENSG00000175105 zinc finger protein 654 ZNF654 FLJ10997, FLJ21142 Yes No Ensembl:ENSG00000175105, GeneCard:ZNF654, HGNC:HGNC:25612, HumanCyc Gene:HS16433, NCBI Gene:55279, RefSeq DNA:NT_022459, RefSeq Protein:NP_060763, RefSeq RNA:NM_018293, UniProtKB:Q8IZM8 No chr3 88108394 88193814 88059217 88144664 +PA134883537 79027 HGNC:30899 ENSG00000197343 zinc finger protein 655 ZNF655 VIK, VIK-1 Yes No Ensembl:ENSG00000197343, GeneCard:ZNF655, HGNC:HGNC:30899, HumanCyc Gene:HS10054, ModBase:Q8N720, NCBI Gene:79027, RefSeq DNA:NG_000004, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001009958, RefSeq Protein:NP_001009960, RefSeq Protein:NP_001077425, RefSeq Protein:NP_001078835, RefSeq Protein:NP_001078836, RefSeq Protein:NP_001078837, RefSeq Protein:NP_076966, RefSeq Protein:NP_612503, RefSeq RNA:NM_001009958, RefSeq RNA:NM_001009960, RefSeq RNA:NM_001083956, RefSeq RNA:NM_001085366, RefSeq RNA:NM_001085367, RefSeq RNA:NM_001085368, RefSeq RNA:NM_024061, RefSeq RNA:NM_138494, UniProtKB:A6NGD3, UniProtKB:B4E3M4, UniProtKB:Q68DU4, UniProtKB:Q8N720 No chr7 99156034 99174076 99557726 99576453 +PA134907871 26149 HGNC:25226 ENSG00000274349 zinc finger protein 658 ZNF658 DKFZp572C163, FLJ32813, MGC35232 Yes No Ensembl:ENSG00000274349, GeneCard:ZNF658, HGNC:HGNC:25226, ModBase:Q5TYW1, NCBI Gene:26149, RefSeq DNA:NT_078041, RefSeq Protein:NP_149350, RefSeq RNA:NM_033160, UniProtKB:Q5TYW1 No chr9 40771188 40792112 66900725 66932141 +PA142670509 401509 HGNC:32033 ENSG00000198416 zinc finger protein 658B, pseudogene ZNF658B Yes No Ensembl:ENSG00000198416, GeneCard:ZNF658B, HGNC:HGNC:32033, ModBase:Q4V348, NCBI Gene:401509, RefSeq DNA:NT_078043, RefSeq Protein:NP_001027468, RefSeq RNA:NM_001032297, RefSeq RNA:NR_027861 No chr9 41588836 41592207 39443815 39464526 +PA37709 7617 HGNC:13135 ENSG00000160229 zinc finger protein 66 ZNF66 FLJ16537, ZNF66P Yes No Ensembl:ENSG00000160229, GenAtlas:ZNF66, GeneCard:ZNF66P, HGNC:HGNC:13135, NCBI Gene:7617, RefSeq DNA:NG_023377, RefSeq DNA:NT_011295, RefSeq Protein:XP_001128444, RefSeq Protein:XP_001714913, RefSeq Protein:XP_001719810, RefSeq RNA:XM_001128444, RefSeq RNA:XM_001714861, RefSeq RNA:XM_001719758 No chr19 20959076 21020282 20776270 20837476 +PA134920595 285349 HGNC:26720 ENSG00000144792 zinc finger protein 660 ZNF660 FLJ36870 Yes No Ensembl:ENSG00000144792, GeneCard:ZNF660, HGNC:HGNC:26720, HumanCyc Gene:HS11123, ModBase:Q6AZW8, NCBI Gene:285349, RefSeq DNA:NT_022517, RefSeq Protein:NP_775929, RefSeq RNA:NM_173658, UniProtKB:Q6AZW8 No chr3 44626456 44641186 44584847 44599699 +PA142670510 389114 HGNC:31930 ENSG00000182983 zinc finger protein 662 ZNF662 FLJ45880 Yes No Ensembl:ENSG00000182983, GeneCard:ZNF662, HGNC:HGNC:31930, ModBase:Q6ZS27, NCBI Gene:389114, RefSeq DNA:NT_022517, RefSeq Protein:NP_001128128, RefSeq Protein:NP_997287, RefSeq RNA:NM_001134656, RefSeq RNA:NM_207404, UniProtKB:A1A4T9, UniProtKB:P61129, UniProtKB:Q6ZS27 No chr3 42947402 42960825 42905910 42919333 +PA37547 144348 HGNC:25406 ENSG00000179195 zinc finger protein 664 ZNF664 zinc finger, organ of Corti 1 DKFZp761B128, ZFOC1, ZNF176 Yes No Ensembl:ENSG00000179195, GenAtlas:ZNF176, GeneCard:ZNF176, GeneCard:ZNF664, HGNC:HGNC:25406, HumanCyc Gene:HS11359, ModBase:Q8N3J9, NCBI Gene:144348, RefSeq DNA:NT_009755, RefSeq Protein:NP_001191227, RefSeq Protein:NP_689650, RefSeq RNA:NM_001204298, RefSeq RNA:NM_152437, UniProtKB:Q8N3J9 No chr12 124457699 124499986 123973215 124015439 +PA142670513 79788 HGNC:25885 ENSG00000197497 zinc finger protein 665 ZNF665 FLJ14345, ZFP160L Yes No Ensembl:ENSG00000197497, GeneCard:ZNF665, HGNC:HGNC:25885, HumanCyc Gene:HS11460, ModBase:Q9H7R5, NCBI Gene:79788, RefSeq DNA:NT_011109, RefSeq Protein:NP_079009, RefSeq RNA:NM_024733 No chr19 53666552 53696619 53163299 53193404 +PA142670514 63934 HGNC:28854 ENSG00000198046 zinc finger protein 667 ZNF667 FLJ14011 Yes No Ensembl:ENSG00000198046, GeneCard:ZNF667, HGNC:HGNC:28854, HumanCyc Gene:HS00392, ModBase:Q5HYK9, NCBI Gene:63934, OMIM:611024, RefSeq DNA:NT_011109, RefSeq Protein:NP_071386, RefSeq RNA:NM_022103, RefSeq RNA:NR_030740, UniProtKB:Q5HYK9 No chr19 56950693 56988770 56438512 56477401 +PA142670515 79759 HGNC:25821 ENSG00000167394 zinc finger protein 668 ZNF668 FLJ13479 Yes No Ensembl:ENSG00000167394, GeneCard:ZNF668, HGNC:HGNC:25821, HumanCyc Gene:HS09555, ModBase:Q96K58, NCBI Gene:79759, RefSeq DNA:NT_010393, RefSeq Protein:NP_001166139, RefSeq Protein:NP_001166140, RefSeq Protein:NP_001166141, RefSeq Protein:NP_078982, RefSeq RNA:NM_001172668, RefSeq RNA:NM_001172669, RefSeq RNA:NM_001172670, RefSeq RNA:NM_024706, UniProtKB:A8K1I4, UniProtKB:Q96K58 No chr16 31072164 31085641 31060843 31074320 +PA142670516 79862 HGNC:25736 ENSG00000188295 zinc finger protein 669 ZNF669 FLJ12606 Yes No Ensembl:ENSG00000188295, GeneCard:ZNF669, HGNC:HGNC:25736, HumanCyc Gene:HS08746, ModBase:Q96BR6, NCBI Gene:79862, RefSeq DNA:NT_167186, RefSeq Protein:NP_001136044, RefSeq Protein:NP_079080, RefSeq RNA:NM_001142572, RefSeq RNA:NM_024804, UniProtKB:B3KP94, UniProtKB:Q96BR6 No chr1 247263264 247267685 247099962 247104400 +PA142670517 93474 HGNC:28167 ENSG00000277462 zinc finger protein 670 ZNF670 MGC12466 Yes No Ensembl:ENSG00000277462, GeneCard:ZNF670, HGNC:HGNC:28167, HumanCyc Gene:HS06057, ModBase:Q9BS34, NCBI Gene:93474, RefSeq DNA:NT_167186, RefSeq Protein:NP_001191149, RefSeq Protein:NP_149990, RefSeq RNA:NM_001204220, RefSeq RNA:NM_033213, UniProtKB:Q9BS34 No chr1 247197940 247242115 247034638 247078813 +PA142670518 79891 HGNC:26279 ENSG00000083814 zinc finger protein 671 ZNF671 hypothetical protein FLJ23506 FLJ23506 Yes No Ensembl:ENSG00000083814, GeneCard:ZNF671, HGNC:HGNC:26279, HumanCyc Gene:HS01453, ModBase:Q8TAW3, NCBI Gene:79891, RefSeq DNA:NT_011109, RefSeq Protein:NP_079109, RefSeq RNA:NM_024833, UniProtKB:Q8TAW3 No chr19 58231115 58238995 57719747 57727637 +PA142670473 79894 HGNC:26179 ENSG00000171161 zinc finger protein 672 ZNF672 hypothetical protein FLJ22301 FLJ22301 Yes No Ensembl:ENSG00000171161, GeneCard:ZNF672, HGNC:HGNC:26179, HumanCyc Gene:HS15957, ModBase:Q499Z4, NCBI Gene:79894, RefSeq DNA:NT_032968, RefSeq Protein:NP_079112, RefSeq RNA:NM_024836, UniProtKB:Q499Z4 No chr1 249132409 249143716 248838178 248849517 +PA142670475 641339 HGNC:17625 ENSG00000251192 zinc finger protein 674 ZNF674 MRX92, ZNF673B Yes No Comparative Toxicogenomics Database:641339, Ensembl:ENSG00000251192, GeneCard:ZNF674, HGNC:HGNC:17625, ModBase:Q2M3X9, NCBI Gene:641339, OMIM:300573, RefSeq DNA:NG_023376, RefSeq DNA:NT_079573, RefSeq Protein:NP_001034980, RefSeq Protein:NP_001139763, RefSeq Protein:NP_001177346, RefSeq RNA:NM_001039891, RefSeq RNA:NM_001146291, RefSeq RNA:NM_001190417, UniProtKB:Q2M3X9 No chrX 46357160 46404892 46497725 46545459 +PA142670476 171392 HGNC:30768 ENSG00000197372 zinc finger protein 675 ZNF675 TRAF6 inhibitory zinc finger TBZF, TIZ Yes No Ensembl:ENSG00000197372, GeneCard:ZNF675, HGNC:HGNC:30768, HumanCyc Gene:HS10544, NCBI Gene:171392, RefSeq DNA:NT_011295, RefSeq Protein:NP_612203, RefSeq RNA:NM_138330, UniProtKB:Q8TD23 No chr19 23835583 23870036 23651079 23687220 +PA142670477 163223 HGNC:20429 ENSG00000196109 zinc finger protein 676 ZNF676 Yes No Ensembl:ENSG00000196109, GeneCard:ZNF676, HGNC:HGNC:20429, ModBase:Q8N7Q3, NCBI Gene:163223, RefSeq DNA:NT_011295, RefSeq Protein:NP_001001411, RefSeq RNA:NM_001001411, UniProtKB:Q8N7Q3 No chr19 22361903 22379753 22179101 22196951 +PA142670478 342926 HGNC:28730 ENSG00000197928 zinc finger protein 677 ZNF677 hypothetical protein MGC48625 MGC48625 Yes No Ensembl:ENSG00000197928, GeneCard:ZNF677, HGNC:HGNC:28730, ModBase:Q86XU0, NCBI Gene:342926, RefSeq DNA:NT_011109, RefSeq Protein:NP_872415, RefSeq RNA:NM_182609, UniProtKB:Q86XU0 No chr19 53738638 53758219 53235381 53254903 +PA142670479 339500 HGNC:28652 ENSG00000181450 zinc finger protein 678 ZNF678 hypothetical protein MGC42493 MGC42493 Yes No Ensembl:ENSG00000181450, GeneCard:ZNF678, HGNC:HGNC:28652, ModBase:Q5SXM1, NCBI Gene:339500, RefSeq DNA:NT_167186, RefSeq Protein:NP_848644, RefSeq RNA:NM_001367909, RefSeq RNA:NM_178549 No chr1 227751220 227865144 227563519 227677443 +PA142670480 168417 HGNC:28650 ENSG00000197123 zinc finger protein 679 ZNF679 hypothetical protein MGC42415 MGC42415 Yes No Ensembl:ENSG00000197123, GeneCard:ZNF679, HGNC:HGNC:28650, HumanCyc Gene:HS13476, ModBase:Q8IYX0, NCBI Gene:168417, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_699194, RefSeq RNA:NM_153363, UniProtKB:Q8IYX0 No chr7 63688852 63727309 64228474 64266931 +PA142670481 340252 HGNC:26897 ENSG00000173041 zinc finger protein 680 ZNF680 hypothetical protein FLJ90430 FLJ90430 Yes No Ensembl:ENSG00000173041, GeneCard:ZNF680, HGNC:HGNC:26897, ModBase:Q8NEM1, NCBI Gene:340252, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001123494, RefSeq Protein:NP_848653, RefSeq RNA:NM_001130022, RefSeq RNA:NM_178558, UniProtKB:Q6ZNF3, UniProtKB:Q8NEM1 No chr7 63980255 64023505 64500253 64563135 +PA142670482 148213 HGNC:26457 ENSG00000196172 zinc finger protein 681 ZNF681 hypothetical protein FLJ31526 FLJ31526 Yes No Ensembl:ENSG00000196172, GeneCard:ZNF681, HGNC:HGNC:26457, ModBase:Q96N22, NCBI Gene:148213, RefSeq DNA:NT_011295, RefSeq Protein:NP_612143, RefSeq RNA:NM_138286, UniProtKB:B3KVF7 No chr19 23921997 23941693 23739195 23758891 +PA142670483 91120 HGNC:28857 ENSG00000197124 zinc finger protein 682 ZNF682 BC39498_3 Yes No Comparative Toxicogenomics Database:91120, Ensembl:ENSG00000197124, GeneCard:ZNF682, HGNC:HGNC:28857, HumanCyc Gene:HS00924, ModBase:O95780, NCBI Gene:91120, RefSeq DNA:NT_011295, RefSeq Protein:NP_001070817, RefSeq Protein:NP_149973, RefSeq RNA:NM_001077349, RefSeq RNA:NM_033196, UniProtKB:B3KUX2, UniProtKB:O95780 No chr19 20115227 20150277 20004418 20039468 +PA142670484 257101 HGNC:28495 ENSG00000176083 zinc finger protein 683 ZNF683 Tissue-resident T-cell transcription regulator protein ZNF683, homolog of Blimp-1 in T cells, hypothetical protein MGC33414 Hobit, MGC33414 Yes No Ensembl:ENSG00000176083, GeneCard:ZNF683, HGNC:HGNC:28495, HumanCyc Gene:HS10995, NCBI Gene:257101, RefSeq DNA:NT_004610, RefSeq Protein:NP_001108231, RefSeq Protein:NP_775845, RefSeq RNA:NM_001114759, RefSeq RNA:NM_173574, UniProtKB:Q8IZ20 No chr1 26688125 26701023 26361632 26374520 +PA142670485 127396 HGNC:28418 ENSG00000117010 zinc finger protein 684 ZNF684 hypothetical protein MGC27466 MGC27466 Yes No Ensembl:ENSG00000117010, GeneCard:ZNF684, HGNC:HGNC:28418, HumanCyc Gene:HS10378, ModBase:Q5T5D7, NCBI Gene:127396, RefSeq DNA:NT_032977, RefSeq Protein:NP_689586, RefSeq RNA:NM_152373, UniProtKB:B3KSP5, UniProtKB:Q5T5D7 No chr1 40997233 41013841 40531349 40548169 +PA142670486 57592 HGNC:29277 ENSG00000143373 zinc finger protein 687 ZNF687 KIAA1441 Yes No Ensembl:ENSG00000143373, GeneCard:ZNF687, HGNC:HGNC:29277, HumanCyc Gene:HS07039, ModBase:Q8N1G0, NCBI Gene:57592, OMIM:610568, RefSeq DNA:NT_004487, RefSeq Protein:NP_065883, RefSeq RNA:NM_020832, UniProtKB:Q8N1G0 No chr1 151254094 151264381 151281555 151291905 +PA142670487 146542 HGNC:30489 ENSG00000229809 zinc finger protein 688 ZNF688 Yes No Ensembl:ENSG00000229809, GeneCard:ZNF688, HGNC:HGNC:30489, ModBase:P0C7X2, ModBase:Q8WV14, NCBI Gene:146542, RefSeq DNA:NT_010393, RefSeq Protein:NP_001019854, RefSeq Protein:NP_660314, RefSeq RNA:NM_001024683, RefSeq RNA:NM_145271, UniProtKB:A8MV39, UniProtKB:P0C7X2 No chr16 30580998 30585243 30569677 30572407 +PA142670488 115509 HGNC:25173 ENSG00000156853 zinc finger protein 689 ZNF689 FLJ90415, TIPUH1 Yes No Ensembl:ENSG00000156853, GeneCard:ZNF689, HGNC:HGNC:25173, ModBase:Q96CS4, NCBI Gene:115509, RefSeq DNA:NT_010393, RefSeq Protein:NP_612456, RefSeq RNA:NM_138447, UniProtKB:Q96CS4 No chr16 30613879 30622096 30602558 30610775 +PA37712 7620 HGNC:13138 ENSG00000198429 zinc finger protein 69 ZNF69 Cos5 Yes No Ensembl:ENSG00000198429, GenAtlas:ZNF69, GeneCard:ZNF69, HGNC:HGNC:13138, NCBI Gene:7620, OMIM:194543, RefSeq DNA:NT_011295, RefSeq Protein:NP_068734, RefSeq RNA:NM_021915, UniProtKB:Q9UC07 No chr19 11998633 12025366 11887773 11980222 +PA142670490 51058 HGNC:28028 ENSG00000164011 zinc finger protein 691 ZNF691 Zfp691 Yes No Ensembl:ENSG00000164011, GeneCard:ZNF691, HGNC:HGNC:28028, HumanCyc Gene:HS08980, ModBase:Q5VV52, NCBI Gene:51058, RefSeq DNA:NT_032977, RefSeq Protein:NP_001229668, RefSeq Protein:NP_056995, RefSeq RNA:NM_001242739, RefSeq RNA:NM_015911, UniProtKB:Q5VV52 No chr1 43312244 43318148 42846573 42852477 +PA142670491 55657 HGNC:26049 ENSG00000171163 zinc finger protein 692 ZNF692 AICAR responsive element binding protein AREBP, FLJ20531, Zfp692 Yes No Ensembl:ENSG00000171163, GeneCard:ZNF692, HGNC:HGNC:26049, HumanCyc Gene:HS15958, ModBase:Q9BU19, NCBI Gene:55657, RefSeq DNA:NT_032968, RefSeq Protein:NP_001129508, RefSeq Protein:NP_001180257, RefSeq Protein:NP_060335, RefSeq RNA:NM_001136036, RefSeq RNA:NM_001193328, RefSeq RNA:NM_017865, UniProtKB:B4DXZ0, UniProtKB:Q9BU19 No chr1 249144203 249153315 248850004 248860759 +PA142670493 57116 HGNC:30954 ENSG00000197472 zinc finger protein 695 ZNF695 SBZF3 Yes No Ensembl:ENSG00000197472, GeneCard:ZNF695, HGNC:HGNC:30954, HumanCyc Gene:HS07892, ModBase:Q8IW36, NCBI Gene:57116, RefSeq DNA:NT_167186, RefSeq Protein:NP_001191150, RefSeq Protein:NP_065127, RefSeq RNA:NM_001204221, RefSeq RNA:NM_020394, RefSeq RNA:NR_037892, UniProtKB:Q8IW36 No chr1 247108849 247171395 246945547 247008093 +PA142670494 79943 HGNC:25872 ENSG00000185730 zinc finger protein 696 ZNF696 FLJ14129 Yes No Ensembl:ENSG00000185730, GeneCard:ZNF696, HGNC:HGNC:25872, ModBase:Q9H7X3, NCBI Gene:79943, RefSeq DNA:NT_008046, RefSeq Protein:NP_112157, RefSeq RNA:NM_030895, UniProtKB:Q9H7X3 No chr8 144371651 144382122 143291389 143299952 +PA142670495 90874 HGNC:32034 ENSG00000143067 zinc finger protein 697 ZNF697 MGC45731 Yes Yes Comparative Toxicogenomics Database:90874, Ensembl:ENSG00000143067, GeneCard:ZNF697, HGNC:HGNC:32034, HumanCyc Gene:HS06982, ModBase:Q5TEC3, NCBI Gene:90874, RefSeq DNA:NT_032977, RefSeq Protein:NP_001073939, RefSeq RNA:NM_001080470, UniProtKB:Q5TEC3 No chr1 120162000 120190813 119619377 119648173 +PA142670496 374879 HGNC:24750 ENSG00000196110 zinc finger protein 699 ZNF699 hangover homolog (Drosophila) FLJ38144, hang Yes No Ensembl:ENSG00000196110, GeneCard:ZNF699, HGNC:HGNC:24750, ModBase:Q32M78, NCBI Gene:374879, OMIM:609571, RefSeq DNA:NT_011295, RefSeq Protein:NP_940937, RefSeq RNA:NM_198535, UniProtKB:Q32M78 No chr19 9404246 9420390 9291140 9309714 +PA37713 7553 HGNC:13139 ENSG00000147789 zinc finger protein 7 ZNF7 HF.16, KOX4 Yes No Ensembl:ENSG00000147789, GenAtlas:ZNF7, GeneCard:ZNF7, HGNC:HGNC:13139, HumanCyc Gene:HS07467, ModBase:P17097, NCBI Gene:7553, OMIM:194531, RefSeq DNA:NT_037704, RefSeq Protein:NP_003407, RefSeq RNA:NM_003416, UCSC Genome Browser:NM_003416, UniProtKB:P17097 No chr8 146052855 146072893 144827500 144848070 +PA37714 7621 HGNC:13140 ENSG00000187792 zinc finger protein 70 ZNF70 Cos17, MGC48959 Yes No Ensembl:ENSG00000187792, GenAtlas:ZNF70, GeneCard:ZNF70, HGNC:HGNC:13140, ModBase:Q9UC06, NCBI Gene:7621, OMIM:194544, RefSeq DNA:NT_011520, RefSeq Protein:NP_068735, RefSeq RNA:NM_021916, UCSC Genome Browser:NM_021916, UniProtKB:Q9UC06 No chr22 24083772 24093279 23741584 23751092 +PA142670497 90592 HGNC:25292 ENSG00000196757 zinc finger protein 700 ZNF700 DKFZp434I1610 Yes No Ensembl:ENSG00000196757, GeneCard:ZNF700, HGNC:HGNC:25292, ModBase:Q9H0M5, NCBI Gene:90592, RefSeq DNA:NT_011295, RefSeq Protein:NP_653167, RefSeq RNA:NM_144566, UniProtKB:Q9H0M5 No chr19 12035883 12061588 11925068 11950773 +PA142670498 55762 HGNC:25597 ENSG00000167562 zinc finger protein 701 ZNF701 FLJ10891 Yes No Ensembl:ENSG00000167562, GeneCard:ZNF701, HGNC:HGNC:25597, HumanCyc Gene:HS09581, ModBase:Q9NV72, NCBI Gene:55762, RefSeq DNA:NT_011109, RefSeq Protein:NP_001166126, RefSeq Protein:NP_060730, RefSeq RNA:NM_001172655, RefSeq RNA:NM_018260, UniProtKB:Q6NWZ7, UniProtKB:Q9NV72 No chr19 53073526 53090427 52570273 52627269 +PA142670499 79986 HGNC:25775 ENSG00000242779 zinc finger protein 702, pseudogene ZNF702P FLJ12985 Yes No Ensembl:ENSG00000242779, HGNC:HGNC:25775, ModBase:Q9H963, NCBI Gene:79986, RefSeq DNA:NT_011109, RefSeq Protein:NP_079200, RefSeq RNA:NM_024924, RefSeq RNA:NR_003578, UniProtKB:Q9H963 No chr19 53471504 53496784 52968251 52993531 +PA142670500 80139 HGNC:25883 ENSG00000183779 zinc finger protein 703 ZNF703 zinc finger elbow-related proline domain protein 1 FLJ14299, NLZ1, ZEPPO1, ZNF503L, Zpo1 Yes Yes Comparative Toxicogenomics Database:80139, Ensembl:ENSG00000183779, GeneCard:ZNF703, HGNC:HGNC:25883, ModBase:Q9H7S9, NCBI Gene:80139, RefSeq DNA:NT_167187, RefSeq Protein:NP_079345, RefSeq RNA:NM_025069, UniProtKB:Q9H7S9 No chr8 37553301 37556396 37695751 37700021 +PA142670501 619279 HGNC:32291 ENSG00000164684 zinc finger protein 704 ZNF704 FLJ16218, Gig1 Yes No Ensembl:ENSG00000164684, GeneCard:ZNF704, HGNC:HGNC:32291, ModBase:Q6ZNC4, NCBI Gene:619279, RefSeq DNA:NT_008183, RefSeq Protein:NP_001028895, RefSeq RNA:NM_001033723, UniProtKB:Q6ZNC4 No chr8 81540686 81787016 80628451 80884416 +PA142670502 440077 HGNC:32281 ENSG00000196946 zinc finger protein 705A ZNF705A FLJ16353 Yes No Ensembl:ENSG00000196946, GeneCard:ZNF705A, HGNC:HGNC:32281, ModBase:Q6ZN79, NCBI Gene:440077, RefSeq DNA:NT_009714, RefSeq Protein:NP_001004328, RefSeq RNA:NM_001004328, UniProtKB:Q6ZN79 No chr12 8290807 8332642 8172554 8180046 +PA142670503 100132396 HGNC:32284 ENSG00000215356 zinc finger protein 705B ZNF705B Yes No Ensembl:ENSG00000215356, GeneCard:ZNF705B, HGNC:HGNC:32284, NCBI Gene:100132396 No chr8 7783859 7809935 7926337 7952413 +PA162410210 728957 HGNC:33202 ENSG00000215343 zinc finger protein 705D ZNF705D Yes No Ensembl:ENSG00000215343, GeneCard:ZNF705D, HGNC:HGNC:33202, NCBI Gene:728957, RefSeq DNA:NT_077531, RefSeq Protein:NP_001034704, RefSeq RNA:NM_001039615, UniProtKB:A8K971 No chr8 11946847 11973025 12089338 12115516 +PA166352326 HGNC:33204 zinc finger protein 705F ZNF705F Yes No HGNC:HGNC:33204 No 0 0 0 0 +PA165586029 100131980 HGNC:37134 ENSG00000215372 zinc finger protein 705G ZNF705G Yes No Ensembl:ENSG00000215372, GeneCard:ZNF705G, HGNC:HGNC:37134, NCBI Gene:100131980, RefSeq DNA:NT_023736, RefSeq Protein:NP_001157929, RefSeq Protein:XP_001720569, RefSeq Protein:XP_002346119, RefSeq Protein:XP_002347297, RefSeq RNA:NM_001164457, RefSeq RNA:XM_001720517, RefSeq RNA:XM_002346078, RefSeq RNA:XM_002347256, UniProtKB:A8MUZ8 No chr8 7215498 7220490 7357168 7381540 +PA142670505 51123 HGNC:24992 ENSG00000120963 zinc finger protein 706 ZNF706 HSPC038 Yes No Ensembl:ENSG00000120963, GeneCard:ZNF706, HGNC:HGNC:24992, HumanCyc Gene:HS13009, ModBase:Q9Y5V0, NCBI Gene:51123, RefSeq DNA:NT_008046, RefSeq Protein:NP_001035975, RefSeq Protein:NP_001035976, RefSeq Protein:NP_057180, RefSeq RNA:NM_001042510, RefSeq RNA:NM_001042511, RefSeq RNA:NM_016096, UniProtKB:Q9Y5V0 No chr8 102209266 102218292 101197038 101206064 +PA142670506 286075 HGNC:27815 ENSG00000181135 zinc finger protein 707 ZNF707 Yes No Ensembl:ENSG00000181135, GeneCard:ZNF707, HGNC:HGNC:27815, ModBase:Q96C28, NCBI Gene:286075, RefSeq DNA:NT_008046, RefSeq Protein:NP_001094068, RefSeq Protein:NP_001094069, RefSeq Protein:NP_776192, RefSeq RNA:NM_001100598, RefSeq RNA:NM_001100599, RefSeq RNA:NM_173831, UniProtKB:Q96C28 No chr8 144766622 144777672 143684452 143695633 +PA37528 7562 HGNC:12945 ENSG00000182141 zinc finger protein 708 ZNF708 KOX8, ZNF15, ZNF15L1 Yes No Ensembl:ENSG00000182141, GenAtlas:ZNF708, GeneCard:ZNF708, HGNC:HGNC:12945, NCBI Gene:7562, RefSeq DNA:NT_011295, RefSeq Protein:NP_067092, RefSeq RNA:NM_021269 No chr19 21473963 21512219 21290388 21329439 +PA142670469 163051 HGNC:20629 ENSG00000242852 zinc finger protein 709 ZNF709 FLJ38281 Yes No Ensembl:ENSG00000242852, GeneCard:ZNF709, HGNC:HGNC:20629, HumanCyc Gene:HS11539, ModBase:Q8N972, NCBI Gene:163051, RefSeq DNA:NT_011295, RefSeq Protein:NP_001139119, RefSeq Protein:NP_689814, RefSeq RNA:NM_001145647, RefSeq RNA:NM_152601, UniProtKB:A8K4E6, UniProtKB:Q8N972 No chr19 12571998 12595632 12461184 12484818 +PA134887434 100419609 HGNC:13846 ENSG00000225463 zinc finger protein 70 pseudogene 1 ZNF70P1 bCX269C15.3, dJ1033B10.7 Yes No Ensembl:ENSG00000225463, GeneCard:ZNF314P, HGNC:HGNC:13846, NCBI Gene:100419609 No chr6 33183351 33183960 33215574 33216183 +PA37715 58491 HGNC:13141 ENSG00000197951 zinc finger protein 71 ZNF71 Cos26, EZFIT Yes No Ensembl:ENSG00000197951, GenAtlas:ZNF71, GeneCard:ZNF71, HGNC:HGNC:13141, HumanCyc Gene:HS09449, ModBase:Q9NQZ8, NCBI Gene:58491, OMIM:194545, RefSeq DNA:NT_011109, RefSeq Protein:NP_067039, RefSeq RNA:NM_021216, UCSC Genome Browser:NM_021216, UniProtKB:Q9NQZ8 No chr19 57106664 57135550 56595259 56624481 +PA142670470 374655 HGNC:25352 ENSG00000140548 zinc finger protein 710 ZNF710 DKFZp547K1113, FLJ00306, FLJ37393 Yes No Ensembl:ENSG00000140548, GeneCard:ZNF710, HGNC:HGNC:25352, ModBase:Q8N1W2, NCBI Gene:374655, RefSeq DNA:NT_010274, RefSeq Protein:NP_940928, RefSeq RNA:NM_198526, UniProtKB:Q8N1W2 No chr15 90544197 90625432 90001491 90082200 +PA37702 7552 HGNC:13128 ENSG00000147180 zinc finger protein 711 ZNF711 CMPX1, MRX65, MRX97, ZNF4, ZNF5, ZNF6, Zfp711, dJ75N13.1 Yes No Ensembl:ENSG00000147180, GenAtlas:ZNF711, GeneCard:ZNF711, HGNC:HGNC:13128, HumanCyc Gene:HS07408, ModBase:Q9Y462, NCBI Gene:7552, OMIM:314990, RefSeq DNA:NG_012535, RefSeq DNA:NT_011651, RefSeq Protein:NP_068838, RefSeq RNA:NM_021998, UCSC Genome Browser:NM_021998, UniProtKB:Q6PK66, UniProtKB:Q9Y462 No chrX 84498826 84528368 85243820 85273362 +PA143485679 349075 HGNC:22043 ENSG00000178665 zinc finger protein 713 ZNF713 FLJ39963 Yes No Ensembl:ENSG00000178665, GeneCard:ZNF713, HGNC:HGNC:22043, ModBase:Q8N859, NCBI Gene:349075, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_872439, RefSeq RNA:NM_182633, UniProtKB:Q8N859 No chr7 55955148 56008519 55887277 55942225 +PA143485680 148206 HGNC:27124 ENSG00000160352 zinc finger protein 714 ZNF714 Yes No Ensembl:ENSG00000160352, GeneCard:ZNF714, HGNC:HGNC:27124, ModBase:Q96N38, NCBI Gene:148206, RefSeq DNA:NT_011295, RefSeq Protein:NP_872321, RefSeq RNA:NM_182515, UniProtKB:Q96N38 No chr19 21264953 21307897 21082147 21125094 +PA143485681 441234 HGNC:32458 ENSG00000182111 zinc finger protein 716 ZNF716 FLJ46189 Yes No Ensembl:ENSG00000182111, GeneCard:ZNF716, HGNC:HGNC:32458, NCBI Gene:441234, RefSeq DNA:NT_033968, RefSeq DNA:NT_079592, RefSeq Protein:NP_001152751, RefSeq Protein:XP_002342768, RefSeq Protein:XP_002344355, RefSeq Protein:XP_002346034, RefSeq Protein:XP_002346919, RefSeq RNA:NM_001159279, RefSeq RNA:XM_002342727, RefSeq RNA:XM_002344314, RefSeq RNA:XM_002345993, RefSeq RNA:XM_002346878 No chr7 57509883 57533265 57450177 57473559 +PA142670471 100131827 HGNC:29448 ENSG00000227124 zinc finger protein 717 ZNF717 X17, ZNF838 Yes No Ensembl:ENSG00000227124, GeneCard:ZNF717, HGNC:HGNC:29448, NCBI Gene:100131827, RefSeq DNA:NT_022459, RefSeq Protein:NP_001121695, RefSeq RNA:NM_001128223, UniProtKB:C9JSV9 No chr3 75785868 75834709 75729961 75785583 +PA143485682 255403 HGNC:26889 ENSG00000250312 zinc finger protein 718 ZNF718 FLJ90036 Yes No Ensembl:ENSG00000250312, GeneCard:ZNF718, HGNC:HGNC:26889, HumanCyc Gene:HS16890, ModBase:Q3SXZ3, NCBI Gene:255403, RefSeq DNA:NT_037622, RefSeq Protein:NP_001034216, RefSeq RNA:NM_001039127, UniProtKB:Q3SXZ3 No chr4 124420 156491 124247 202306 +PA143485684 170960 HGNC:29425 ENSG00000182903 zinc finger protein 721 ZNF721 KIAA1982 Yes No Ensembl:ENSG00000182903, GeneCard:ZNF721, HGNC:HGNC:29425, NCBI Gene:170960, RefSeq DNA:NT_037622, RefSeq Protein:NP_597731, RefSeq RNA:NM_133474 No chr4 433773 492960 439984 499171 +PA166352327 100419780 HGNC:22571 zinc finger protein 722 ZNF722 ZNF722P Yes No HGNC:HGNC:22571, NCBI Gene:100419780 No 0 0 0 0 +PA145149931 646864 HGNC:32286 ENSG00000268696 zinc finger protein 723 ZNF723 ZNF723P Yes No Ensembl:ENSG00000268696, GeneCard:ZNF723, HGNC:HGNC:32286, NCBI Gene:646864 No chr19 23015104 23041173 22832239 22858484 +PA145149932 440519 HGNC:32460 ENSG00000196081 zinc finger protein 724 ZNF724 zinc finger protein 724, pseudogene ZNF724P Yes No Ensembl:ENSG00000196081, GeneCard:ZNF724P, HGNC:HGNC:32460, NCBI Gene:440519, RefSeq DNA:NG_005791, RefSeq DNA:NT_011295, RefSeq RNA:XR_109586 No chr19 23406607 23433172 23223805 23250370 +PA145149934 100128853 HGNC:32461 ENSG00000268100 zinc finger protein 725, pseudogene ZNF725P Yes No Ensembl:ENSG00000268100, GeneCard:ZNF725P, HGNC:HGNC:32461, NCBI Gene:100128853, RefSeq DNA:NG_011783, RefSeq DNA:NT_011295 No chr19 23672668 23688784 23489866 23505982 +PA145149936 730087 HGNC:32462 ENSG00000213967 zinc finger protein 726 ZNF726 ZNF92P3 Yes No Ensembl:ENSG00000213967, GeneCard:ZNF726, HGNC:HGNC:32462, NCBI Gene:730087, RefSeq DNA:NT_011295, RefSeq Protein:NP_001177758, RefSeq Protein:XP_001715186, RefSeq Protein:XP_001726999, RefSeq Protein:XP_001727003, RefSeq RNA:NM_001190829, RefSeq RNA:XM_001715134, RefSeq RNA:XM_001726947, RefSeq RNA:XM_001726951 No chr19 24097684 24116769 23914882 23933967 +PA37710 7618 HGNC:13136 zinc finger protein 726 pseudogene 1 ZNF726P1 Yes No GenAtlas:ZNF67, GeneCard:ZNF726P1, HGNC:HGNC:13136, NCBI Gene:7618, RefSeq DNA:NT_011295 No chr19 24015084 24015272 23832282 23832470 +PA162410231 442319 HGNC:22785 ENSG00000214652 zinc finger protein 727 ZNF727 ZNF727P Yes No Ensembl:ENSG00000214652, GeneCard:ZNF727, HGNC:HGNC:22785, NCBI Gene:442319, RefSeq DNA:NT_007933, RefSeq Protein:NP_001152994, RefSeq Protein:XP_001719677, RefSeq Protein:XP_001720122, RefSeq Protein:XP_002342773, RefSeq RNA:NM_001159522, RefSeq RNA:XM_001719625, RefSeq RNA:XM_001720070, RefSeq RNA:XM_002342732, UniProtKB:A8MUV8 No chr7 63505765 63544444 64044806 64085184 +PA145149937 388523 HGNC:32463 ENSG00000269067 zinc finger protein 728 ZNF728 Yes No Ensembl:ENSG00000269067, GeneCard:ZNF728, HGNC:HGNC:32463, NCBI Gene:388523, RefSeq DNA:NT_011295, RefSeq Protein:XP_001720988, RefSeq Protein:XP_001726111, RefSeq Protein:XP_001727013, RefSeq RNA:XM_001720936, RefSeq RNA:XM_001726059, RefSeq RNA:XM_001726961 No chr19 23157685 23186010 22974883 23003208 +PA145149938 100287226 HGNC:32464 ENSG00000196350 zinc finger protein 729 ZNF729 Yes No Ensembl:ENSG00000196350, GeneCard:ZNF729, HGNC:HGNC:32464, NCBI Gene:100287226 No chr19 22469252 22499978 22286404 22317438 +PA37716 100287084 HGNC:13142 ENSG00000184624 zinc finger protein 72, pseudogene ZNF72P Cos8 Yes No Ensembl:ENSG00000184624, GenAtlas:ZNF72, GeneCard:ZNF72, HGNC:HGNC:13142, NCBI Gene:100287084, OMIM:194546 No chr22 +PA162410249 100129543 HGNC:32470 ENSG00000183850 zinc finger protein 730 ZNF730 Yes No Ensembl:ENSG00000183850, GeneCard:ZNF730, HGNC:HGNC:32470, ModBase:Q6ZMV8, NCBI Gene:100129543, RefSeq DNA:NT_011295, RefSeq Protein:XP_001715117, RefSeq Protein:XP_001719012, RefSeq Protein:XP_001719844, RefSeq RNA:XM_001715065, RefSeq RNA:XM_001718960, RefSeq RNA:XM_001719792 No chr19 23299777 23330014 23074990 23147886 +PA162410265 654254 HGNC:37138 ENSG00000186777 zinc finger protein 732 ZNF732 FLJ59067 Yes No Ensembl:ENSG00000186777, GeneCard:ZNF732, HGNC:HGNC:37138, NCBI Gene:654254, RefSeq DNA:NT_037622, RefSeq Protein:NP_001131080, RefSeq RNA:NM_001137608, UniProtKB:B4DXR9 No chr4 264464 299110 270675 305321 +PA162410266 643955 HGNC:32473 ENSG00000185037 zinc finger protein 733, pseudogene ZNF733P Yes No Ensembl:ENSG00000185037, GeneCard:ZNF733, HGNC:HGNC:32473, NCBI Gene:643955 No chr7 62751665 62764434 63291287 63304056 +PA162410267 644017 HGNC:32465 ENSG00000197990 zinc finger protein 734, pseudogene ZNF734P Yes No Ensembl:ENSG00000197990, GeneCard:ZNF734, HGNC:HGNC:32465, NCBI Gene:644017 No chr7 62904563 62917271 63444185 63456893 +PA162410268 730291 HGNC:32466 ENSG00000223614 zinc finger protein 735 ZNF735 ZNF735P Yes No Ensembl:ENSG00000223614, GeneCard:ZNF735, HGNC:HGNC:32466, NCBI Gene:730291, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_001152996, RefSeq Protein:XP_001719670, RefSeq Protein:XP_001719703, RefSeq Protein:XP_002344394, RefSeq Protein:XP_002346921, RefSeq RNA:NM_001159524, RefSeq RNA:XM_001719618, RefSeq RNA:XM_001719651, RefSeq RNA:XM_002344353, RefSeq RNA:XM_002346880, UniProtKB:P0CB33 No chr7 63667581 63680668 64207203 64220290 +PA164727747 728927 HGNC:32467 ENSG00000234444 zinc finger protein 736 ZNF736 Yes No Ensembl:ENSG00000234444, HGNC:HGNC:32467, NCBI Gene:728927 No chr7 63767815 63810017 64313873 64356634 +PA38586 246123 HGNC:37728 ENSG00000233126 zinc finger protein 736 pseudogene 3, Y-linked ZNF736P3Y Yes No Ensembl:ENSG00000233126, GenAtlas:ZNF381P, GeneCard:ZNF736P3Y, HGNC:HGNC:37728, NCBI Gene:246123, RefSeq DNA:NG_004755, RefSeq DNA:NT_011903 No chrY 25196182 25197315 23050035 23051168 +PA165791926 HGNC:38597 zinc finger protein 736 pseudogene 5, Y-linked ZNF736P5Y Yes No HGNC:HGNC:38597 No +PA162410269 100129842 HGNC:32468 ENSG00000237440 zinc finger protein 737 ZNF737 ZNF102 Yes No Ensembl:ENSG00000237440, GeneCard:ZNF737, HGNC:HGNC:32468, NCBI Gene:100129842, OMIM:603984, RefSeq DNA:NT_011295, RefSeq Protein:NP_001152765, RefSeq Protein:XP_002343665, RefSeq Protein:XP_002345209, RefSeq Protein:XP_002347972, RefSeq RNA:NM_001159293, RefSeq RNA:XM_002343624, RefSeq RNA:XM_002345168, RefSeq RNA:XM_002347931 No chr19 20714067 20748626 20531230 20565821 +PA166181685 148203 HGNC:32469 ENSG00000172687 zinc finger protein 738 ZNF738 Yes No Ensembl:ENSG00000172687, HGNC:HGNC:32469, NCBI Gene:148203 No 0 0 0 0 +PA37718 7625 HGNC:13144 ENSG00000185252 zinc finger protein 74 ZNF74 Cos52, ZNF520, Zfp520 Yes No Ensembl:ENSG00000185252, GenAtlas:ZNF74, GeneCard:ZNF74, HGNC:HGNC:13144, ModBase:Q16587, NCBI Gene:7625, OMIM:194548, RefSeq DNA:NT_011520, RefSeq Protein:NP_003417, RefSeq RNA:NM_003426, RefSeq RNA:NR_003253, UCSC Genome Browser:NM_003426, UniProtKB:Q16587 No chr22 20748405 20762753 20394115 20408463 +PA143485686 283337 HGNC:27465 ENSG00000139651 zinc finger protein 740 ZNF740 Zfp740 Yes No Ensembl:ENSG00000139651, GeneCard:ZNF740, HGNC:HGNC:27465, ModBase:Q8NDX6, NCBI Gene:283337, RefSeq DNA:NT_029419, RefSeq Protein:NP_001004304, RefSeq RNA:NM_001004304, UniProtKB:Q8NDX6 No chr12 53574535 53584654 53180715 53190870 +PA144596520 155061 HGNC:21948 ENSG00000181220 zinc finger protein 746 ZNF746 parkin interacting substrate FLJ31413, PARIS Yes No Ensembl:ENSG00000181220, GeneCard:ZNF746, HGNC:HGNC:21948, HumanCyc Gene:HS17645, ModBase:Q6NUN9, NCBI Gene:155061, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001156946, RefSeq Protein:NP_689770, RefSeq RNA:NM_001163474, RefSeq RNA:NM_152557, UniProtKB:A8K6Z9, UniProtKB:Q6NUN9 No chr7 149169884 149194928 149472793 149497832 +PA144596521 65988 HGNC:28350 ENSG00000169955 zinc finger protein 747 ZNF747 MGC2474 Yes No Ensembl:ENSG00000169955, GeneCard:ZNF747, HGNC:HGNC:28350, HumanCyc Gene:HS10043, ModBase:Q9BV97, NCBI Gene:65988, RefSeq DNA:NT_010393, RefSeq Protein:NP_076420, RefSeq RNA:NM_023931, UniProtKB:Q9BV97 No chr16 30541688 30546345 30530367 30534970 +PA145007248 388567 HGNC:32783 ENSG00000186230 zinc finger protein 749 ZNF749 FLJ16360 Yes No Ensembl:ENSG00000186230, GeneCard:ZNF749, HGNC:HGNC:32783, ModBase:O43361, NCBI Gene:388567, RefSeq DNA:NT_011109, RefSeq Protein:NP_001018855, RefSeq RNA:NM_001023561 No chr19 57946693 57957291 57428565 57447097 +PA145149939 79755 HGNC:25843 ENSG00000141579 zinc finger protein 750 ZNF750 FLJ13841, Zfp750 Yes No Comparative Toxicogenomics Database:79755, Ensembl:ENSG00000141579, GeneCard:ZNF750, HGNC:HGNC:25843, HumanCyc Gene:HS13898, ModBase:Q32MQ0, NCBI Gene:79755, OMIM:610226, OMIM:610227, RefSeq DNA:NG_011604, RefSeq DNA:NT_010663, RefSeq Protein:NP_078978, RefSeq RNA:NM_024702, UniProtKB:Q32MQ0 No chr17 80787310 80797931 82829434 82840055 +PA37720 7627 HGNC:13146 ENSG00000162086 zinc finger protein 75A ZNF75A zinc finger protein 75a FLJ31529 Yes No Ensembl:ENSG00000162086, GenAtlas:ZNF75A, GeneCard:ZNF75A, HGNC:HGNC:13146, HumanCyc Gene:HS08642, ModBase:Q96N20, NCBI Gene:7627, OMIM:601473, RefSeq DNA:NT_010393, RefSeq Protein:NP_694573, RefSeq RNA:NM_153028, UCSC Genome Browser:NM_153028, UniProtKB:Q96N20 No chr16 3355406 3372935 3305406 3322999 +PA37721 7628 HGNC:13147 ENSG00000258212 zinc finger protein 75B, pseudogene ZNF75BP Yes No Ensembl:ENSG00000258212, GenAtlas:ZNF75B, GeneCard:ZNF75BP, HGNC:HGNC:13147, NCBI Gene:7628, RefSeq DNA:NG_001214, RefSeq DNA:NT_029419 No chr12 44401376 44404318 44007985 44010533 +PA37719 7626 HGNC:13145 ENSG00000186376 zinc finger protein 75D ZNF75D D8C6, ZKSCAN24, ZNF75, ZNF82, ZSCAN28 Yes No Ensembl:ENSG00000186376, GenAtlas:ZNF75, GeneCard:ZNF75, GeneCard:ZNF75D, HGNC:HGNC:13145, HumanCyc Gene:HS07416, NCBI Gene:7626, OMIM:314997, RefSeq DNA:NG_021412, RefSeq DNA:NT_011786, RefSeq Protein:NP_001171992, RefSeq Protein:NP_009062, RefSeq RNA:NM_001185063, RefSeq RNA:NM_007131, UCSC Genome Browser:NM_007131, UniProtKB:A6NK62, UniProtKB:P51815 No chrX 134419719 134478034 135248589 135344109 +PA37723 7629 HGNC:13149 ENSG00000065029 zinc finger protein 76 ZNF76 D6S229E, ZNF523, Zfp523 Yes No Ensembl:ENSG00000065029, GenAtlas:ZNF76, GeneCard:ZNF76, HGNC:HGNC:13149, HumanCyc Gene:HS00826, ModBase:P36508, NCBI Gene:7629, OMIM:194549, RefSeq DNA:NT_007592, RefSeq Protein:NP_003418, RefSeq RNA:NM_003427, UCSC Genome Browser:NM_003427, UniProtKB:P36508 No chr6 35226691 35263762 35259473 35295987 +PA145149911 388561 HGNC:23179 ENSG00000160336 zinc finger protein 761 ZNF761 FLJ16231, FLJ35333, KIAA2033 Yes No Ensembl:ENSG00000160336, GeneCard:ZNF761, HGNC:HGNC:23179, NCBI Gene:388561, RefSeq DNA:NT_011109, RefSeq Protein:NP_001008401, RefSeq RNA:NM_001008401, UniProtKB:Q86XN6 No chr19 53935227 53961515 53431974 53458261 +PA162410298 284390 HGNC:27614 ENSG00000197054 zinc finger protein 763 ZNF763 ZNF440L Yes No Ensembl:ENSG00000197054, GeneCard:ZNF763, HGNC:HGNC:27614, NCBI Gene:284390, RefSeq DNA:NT_011295, RefSeq Protein:NP_001012771, RefSeq RNA:NM_001012753, UniProtKB:Q0D2J5 No chr19 12075796 12091214 11965054 11980399 +PA162410311 92595 HGNC:28200 ENSG00000169951 zinc finger protein 764 ZNF764 MGC13138 Yes No Ensembl:ENSG00000169951, GeneCard:ZNF764, HGNC:HGNC:28200, HumanCyc Gene:HS10041, ModBase:Q96H86, NCBI Gene:92595, RefSeq DNA:NT_010393, RefSeq Protein:NP_001166150, RefSeq Protein:NP_219363, RefSeq RNA:NM_001172679, RefSeq RNA:NM_033410, UniProtKB:B3KSN2, UniProtKB:Q96H86 No chr16 30565085 30569642 30553764 30558321 +PA162410312 91661 HGNC:25092 ENSG00000196417 zinc finger protein 765 ZNF765 Yes No Ensembl:ENSG00000196417, GeneCard:ZNF765, HGNC:HGNC:25092, HumanCyc Gene:HS09582, ModBase:Q7L2R6, NCBI Gene:91661, RefSeq DNA:NT_011109, RefSeq Protein:NP_001035275, RefSeq RNA:NM_001040185, UniProtKB:Q7L2R6 No chr19 53898397 53915262 53395144 53412009 +PA162410313 90321 HGNC:28063 ENSG00000196214 zinc finger protein 766 ZNF766 Yes No Ensembl:ENSG00000196214, GeneCard:ZNF766, HGNC:HGNC:28063, ModBase:Q5HY98, NCBI Gene:90321, RefSeq DNA:NT_011109, RefSeq Protein:NP_001010851, RefSeq RNA:NM_001010851, UniProtKB:Q5HY98 No chr19 52772824 52795979 52269251 52292726 +PA162410326 79970 HGNC:21884 zinc finger family member 767 ZNF767 FLJ12700 Yes No GeneCard:ZNF767, HGNC:HGNC:21884, HumanCyc Gene:HS13487, ModBase:Q75MW2, NCBI Gene:79970, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_079186, RefSeq RNA:NM_024910, RefSeq RNA:NR_027788, RefSeq RNA:NR_027789 No chr7 149244245 149321881 149547154 149624790 +PA162410327 79724 HGNC:26273 ENSG00000169957 zinc finger protein 768 ZNF768 FLJ23436 Yes No Ensembl:ENSG00000169957, GeneCard:ZNF768, HGNC:HGNC:26273, HumanCyc Gene:HS10044, ModBase:Q9H5H4, NCBI Gene:79724, RefSeq DNA:NT_010393, RefSeq Protein:NP_078947, RefSeq RNA:NM_024671, UniProtKB:Q9H5H4 No chr16 30535322 30538821 30524001 30532367 +PA37724 58492 HGNC:13150 ENSG00000175691 zinc finger protein 77 ZNF77 pT1 Yes No Ensembl:ENSG00000175691, GenAtlas:ZNF77, GeneCard:ZNF77, HGNC:HGNC:13150, ModBase:Q15935, NCBI Gene:58492, OMIM:194551, RefSeq DNA:NT_011255, RefSeq Protein:NP_067040, RefSeq RNA:NM_021217, UCSC Genome Browser:NM_021217, UniProtKB:Q15935 No chr19 2933216 2944969 2933218 2944971 +PA162410336 54989 HGNC:26061 ENSG00000198146 zinc finger protein 770 ZNF770 FLJ20582, PRO1914 Yes No Ensembl:ENSG00000198146, GeneCard:ZNF770, HGNC:HGNC:26061, ModBase:Q6IQ21, NCBI Gene:54989, RefSeq DNA:NT_010194, RefSeq Protein:NP_054825, RefSeq RNA:NM_014106, UniProtKB:Q6IQ21 No chr15 35270542 35280497 34978341 34988296 +PA162410347 51333 HGNC:29653 ENSG00000179965 zinc finger protein 771 ZNF771 DSC43 Yes No Ensembl:ENSG00000179965, GeneCard:ZNF771, HGNC:HGNC:29653, HumanCyc Gene:HS17399, ModBase:Q7L3S4, NCBI Gene:51333, RefSeq DNA:NT_010393, RefSeq Protein:NP_001135777, RefSeq Protein:NP_057727, RefSeq RNA:NM_001142305, RefSeq RNA:NM_016643, UniProtKB:B2R9V3, UniProtKB:Q7L3S4 No chr16 30418735 30429916 30407414 30418595 +PA162410356 400720 HGNC:33106 ENSG00000197128 zinc finger protein 772 ZNF772 DKFZp686I1569 Yes No Ensembl:ENSG00000197128, GeneCard:ZNF772, HGNC:HGNC:33106, ModBase:Q68DY9, NCBI Gene:400720, RefSeq DNA:NT_011109, RefSeq Protein:NP_001019767, RefSeq Protein:NP_001137540, RefSeq RNA:NM_001024596, RefSeq RNA:NM_001144068, UniProtKB:B4DYS0, UniProtKB:Q68DY9 No chr19 57980954 57988945 57464198 57480950 +PA162410357 374928 HGNC:30487 ENSG00000152439 zinc finger protein 773 ZNF773 MGC4728, ZNF419B Yes No Ensembl:ENSG00000152439, GeneCard:ZNF773, HGNC:HGNC:30487, ModBase:Q6PK81, NCBI Gene:374928, RefSeq DNA:NT_011109, RefSeq Protein:NP_940944, RefSeq RNA:NM_198542, UniProtKB:Q6PK81 No chr19 58011222 58029772 57499854 57516423 +PA162410358 342132 HGNC:33108 ENSG00000196391 zinc finger protein 774 ZNF774 MGC75360 Yes No Ensembl:ENSG00000196391, GeneCard:ZNF774, HGNC:HGNC:33108, ModBase:Q6NX45, NCBI Gene:342132, RefSeq DNA:NT_010274, RefSeq Protein:NP_001004309, RefSeq RNA:NM_001004309, UniProtKB:Q6NX45 No chr15 90895477 90905884 90351440 90362823 +PA162410371 285971 HGNC:28501 ENSG00000196456 zinc finger protein 775 ZNF775 MGC33584 Yes No Ensembl:ENSG00000196456, GeneCard:ZNF775, HGNC:HGNC:28501, ModBase:Q96BV0, NCBI Gene:285971, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_775951, RefSeq RNA:NM_173680, UniProtKB:Q96BV0 No chr7 150076406 150095719 150379317 150398631 +PA162410382 284309 HGNC:26765 ENSG00000152443 zinc finger protein 776 ZNF776 FLJ38288 Yes No Ensembl:ENSG00000152443, GeneCard:ZNF776, HGNC:HGNC:26765, ModBase:Q68DI1, NCBI Gene:284309, RefSeq DNA:NT_011109, RefSeq Protein:NP_775903, RefSeq RNA:NM_173632, UniProtKB:B2RN90, UniProtKB:B4DSC6, UniProtKB:Q68DI1 No chr19 58258164 58269527 57746796 57758159 +PA162410383 27153 HGNC:22213 ENSG00000196453 zinc finger protein 777 ZNF777 KIAA1285 Yes No Ensembl:ENSG00000196453, GeneCard:ZNF777, HGNC:HGNC:22213, HumanCyc Gene:HS05095, NCBI Gene:27153, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_056509, RefSeq RNA:NM_015694, UniProtKB:Q9ULD5 No chr7 149128454 149158053 149431363 149460962 +PA162410400 197320 HGNC:26479 ENSG00000170100 zinc finger protein 778 ZNF778 FLJ31875 Yes No Ensembl:ENSG00000170100, GeneCard:ZNF778, HGNC:HGNC:26479, ModBase:Q96MU6, NCBI Gene:197320, RefSeq DNA:NT_010542, RefSeq Protein:NP_001188336, RefSeq Protein:NP_872337, RefSeq RNA:NM_001201407, RefSeq RNA:NM_182531, RefSeq RNA:NR_037705, UniProtKB:Q96MU6 No chr16 89284111 89302402 89202112 89234453 +PA162410417 284323 HGNC:27603 ENSG00000197782 zinc finger protein 780A ZNF780A ZNF780 Yes No Ensembl:ENSG00000197782, GeneCard:ZNF780A, HGNC:HGNC:27603, NCBI Gene:284323, RefSeq DNA:NT_011109, RefSeq Protein:NP_001010880, RefSeq Protein:NP_001136049, RefSeq Protein:NP_001136050, RefSeq Protein:NP_001136051, RefSeq RNA:NM_001010880, RefSeq RNA:NM_001142577, RefSeq RNA:NM_001142578, RefSeq RNA:NM_001142579, UniProtKB:O75290, UniProtKB:Q05CQ7 No chr19 40575059 40596845 40069152 40091706 +PA162410426 163131 HGNC:33109 ENSG00000128000 zinc finger protein 780B ZNF780B ZNF779 Yes No Ensembl:ENSG00000128000, GeneCard:ZNF780B, HGNC:HGNC:33109, ModBase:Q9Y6R6, NCBI Gene:163131, RefSeq DNA:NT_011109, RefSeq Protein:NP_001005851, RefSeq RNA:NM_001005851, UniProtKB:Q9Y6R6 No chr19 40534167 40562125 40028260 40059026 +PA162410427 163115 HGNC:26745 ENSG00000196381 zinc finger protein 781 ZNF781 FLJ37549 Yes No Ensembl:ENSG00000196381, GeneCard:ZNF781, HGNC:HGNC:26745, ModBase:Q8N8C0, NCBI Gene:163115, RefSeq DNA:NT_011109, RefSeq Protein:NP_689818, RefSeq RNA:NM_152605, UniProtKB:Q8N8C0 No chr19 38158650 38183216 37667749 37692315 +PA162410440 158431 HGNC:33110 ENSG00000196597 zinc finger protein 782 ZNF782 FLJ16636 Yes No Ensembl:ENSG00000196597, GeneCard:ZNF782, HGNC:HGNC:33110, ModBase:Q6ZMW2, NCBI Gene:158431, RefSeq DNA:NT_008470, RefSeq Protein:NP_001001662, RefSeq RNA:NM_001001662, UniProtKB:Q6ZMW2 No chr9 99578754 99696169 96815628 96876698 +PA162410441 100289678 HGNC:27222 ENSG00000204946 zinc finger protein 783 ZNF783 zinc finger family member 783 DKFZp667J212 Yes No Ensembl:ENSG00000204946, GeneCard:ZNF783, HGNC:HGNC:27222, ModBase:Q6ZMS7, NCBI Gene:100289678, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:XP_001726822, RefSeq Protein:XP_002342831, RefSeq Protein:XP_002342832, RefSeq Protein:XP_002344438, RefSeq Protein:XP_002346096, RefSeq RNA:NR_015357, RefSeq RNA:NR_036573, RefSeq RNA:XM_001726770, RefSeq RNA:XM_002342790, RefSeq RNA:XM_002342791, RefSeq RNA:XM_002344397, RefSeq RNA:XM_002346055, UniProtKB:C9J9J2 No chr7 148959262 148982085 149262171 149284994 +PA162410458 147808 HGNC:33111 ENSG00000179922 zinc finger protein 784 ZNF784 MGC75238 Yes No Ensembl:ENSG00000179922, GeneCard:ZNF784, HGNC:HGNC:33111, ModBase:Q8NCA9, NCBI Gene:147808, RefSeq DNA:NT_011109, RefSeq Protein:NP_976308, RefSeq RNA:NM_203374, UniProtKB:Q8NCA9 No chr19 56132107 56135941 55620741 55624575 +PA162410467 146540 HGNC:26496 ENSG00000197162 zinc finger protein 785 ZNF785 FLJ32130 Yes No Ensembl:ENSG00000197162, GeneCard:ZNF785, HGNC:HGNC:26496, ModBase:A8K8V0, NCBI Gene:146540, RefSeq DNA:NT_010393, RefSeq Protein:NP_689671, RefSeq RNA:NM_152458, UniProtKB:A8K8V0 No chr16 30591994 30597092 30573219 30586038 +PA162410468 136051 HGNC:21806 ENSG00000197362 zinc finger protein 786 ZNF786 DKFZp762I137 Yes No Ensembl:ENSG00000197362, GeneCard:ZNF786, HGNC:HGNC:21806, HumanCyc Gene:HS11618, ModBase:Q8N393, NCBI Gene:136051, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_689624, RefSeq RNA:NM_152411, UniProtKB:Q8N393 No chr7 148766733 148787869 149069641 149090777 +PA162410481 126208 HGNC:26998 ENSG00000142409 zinc finger protein 787 ZNF787 Yes No Ensembl:ENSG00000142409, GeneCard:ZNF787, HGNC:HGNC:26998, ModBase:Q6DD87, NCBI Gene:126208, RefSeq DNA:NT_011109, RefSeq Protein:NP_001002836, RefSeq RNA:NM_001002836, UniProtKB:Q6DD87 No chr19 56598732 56632649 56087363 56121373 +PA162410492 285989 HGNC:27801 ENSG00000198556 zinc finger protein 789 ZNF789 Yes No Ensembl:ENSG00000198556, GeneCard:ZNF789, HGNC:HGNC:27801, ModBase:Q5FWF6, NCBI Gene:285989, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001013276, RefSeq Protein:NP_998768, RefSeq RNA:NM_001013258, RefSeq RNA:NM_213603, UniProtKB:A6NH61, UniProtKB:Q5FWF6 No chr7 99070476 99085408 99472819 99487600 +PA37727 7633 HGNC:13153 ENSG00000196152 zinc finger protein 79 ZNF79 pT7 Yes No Comparative Toxicogenomics Database:7633, Ensembl:ENSG00000196152, GenAtlas:ZNF79, GeneCard:ZNF79, HGNC:HGNC:13153, ModBase:Q15937, NCBI Gene:7633, OMIM:194552, RefSeq DNA:NT_008470, RefSeq Protein:NP_009066, RefSeq RNA:NM_007135, UCSC Genome Browser:NM_007135, UniProtKB:Q15937 No chr9 130186653 130209525 127424374 127446289 +PA162410507 388536 HGNC:33114 ENSG00000197863 zinc finger protein 790 ZNF790 FLJ20350, MGC62100 Yes No Ensembl:ENSG00000197863, GeneCard:ZNF790, HGNC:HGNC:33114, ModBase:Q6PG37, NCBI Gene:388536, RefSeq DNA:NT_011109, RefSeq Protein:NP_001229729, RefSeq Protein:NP_001229730, RefSeq Protein:NP_001229731, RefSeq Protein:NP_996777, RefSeq RNA:NM_001242800, RefSeq RNA:NM_001242801, RefSeq RNA:NM_001242802, RefSeq RNA:NM_206894, UniProtKB:Q6PG37 No chr19 37309224 37341689 36814715 36850787 +PA162410522 163049 HGNC:26895 ENSG00000173875 zinc finger protein 791 ZNF791 FLJ90396 Yes No Ensembl:ENSG00000173875, GeneCard:ZNF791, HGNC:HGNC:26895, HumanCyc Gene:HS10742, ModBase:Q3KP31, NCBI Gene:163049, RefSeq DNA:NT_011295, RefSeq Protein:NP_699189, RefSeq RNA:NM_153358, UniProtKB:Q3KP31 No chr19 12721732 12740676 12610918 12631921 +PA162410535 126375 HGNC:24751 ENSG00000180884 zinc finger protein 792 ZNF792 FLJ38451 Yes No Ensembl:ENSG00000180884, GeneCard:ZNF792, HGNC:HGNC:24751, ModBase:Q3KQV3, NCBI Gene:126375, RefSeq DNA:NT_011109, RefSeq Protein:NP_787068, RefSeq RNA:NM_175872, UniProtKB:Q3KQV3 No chr19 35447078 35455139 34956354 34964049 +PA162410548 390927 HGNC:33115 ENSG00000188227 zinc finger protein 793 ZNF793 Yes No Ensembl:ENSG00000188227, GeneCard:ZNF793, HGNC:HGNC:33115, ModBase:Q6ZN11, NCBI Gene:390927, RefSeq DNA:NT_011109, RefSeq Protein:NP_001013681, RefSeq RNA:NM_001013659, UniProtKB:Q6ZN11 No chr19 37997323 38034239 37506939 37543337 +PA162410569 90576 HGNC:28071 ENSG00000196466 zinc finger protein 799 ZNF799 HIT-40, MGC71805, ZNF842 Yes No Ensembl:ENSG00000196466, GeneCard:ZNF799, HGNC:HGNC:28071, NCBI Gene:90576, RefSeq DNA:NT_011295, RefSeq Protein:NP_001074290, RefSeq RNA:NM_001080821, UniProtKB:Q96GE5 No chr19 12500828 12512088 12390014 12401274 +PA37728 7554 HGNC:13154 ENSG00000278129 zinc finger protein 8 ZNF8 HF.18, Zfp128 Yes No Ensembl:ENSG00000278129, GenAtlas:ZNF8, GeneCard:ZNF8, HGNC:HGNC:13154, HumanCyc Gene:HS01457, ModBase:P17098, NCBI Gene:7554, OMIM:194532, RefSeq DNA:NT_011109, RefSeq Protein:NP_066575, RefSeq RNA:NM_021089, UCSC Genome Browser:NM_021089, UniProtKB:B3KS94, UniProtKB:P17098 No chr19 58790314 58827023 58278952 58295888 +PA37729 7634 HGNC:13155 ENSG00000174255 zinc finger protein 80 ZNF80 pT17 Yes No Comparative Toxicogenomics Database:7634, Ensembl:ENSG00000174255, GenAtlas:ZNF80, GeneCard:ZNF80, HGNC:HGNC:13155, HumanCyc Gene:HS10781, ModBase:P51504, NCBI Gene:7634, OMIM:194553, RefSeq DNA:NT_005612, RefSeq Protein:NP_009067, RefSeq RNA:NM_007136, UCSC Genome Browser:NM_007136, UniProtKB:P51504 No chr3 113953370 113956425 114211035 114237578 +PA162410582 168850 HGNC:27267 ENSG00000048405 zinc finger protein 800 ZNF800 Yes No Ensembl:ENSG00000048405, GeneCard:ZNF800, HGNC:HGNC:27267, ModBase:Q2TB10, NCBI Gene:168850, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_789784, RefSeq RNA:NM_176814, UniProtKB:Q2TB10, UniProtKB:Q49A13 No chr7 127010097 127032778 127342871 127392803 +PA162410599 91752 HGNC:21711 ENSG00000170396 zinc finger protein 804A ZNF804A C2orf10 Yes Yes Ensembl:ENSG00000170396, GeneCard:ZNF804A, HGNC:HGNC:21711, ModBase:Q7Z570, NCBI Gene:91752, OMIM:612282, RefSeq DNA:NT_005403, RefSeq Protein:NP_919226, RefSeq RNA:NM_194250, UniProtKB:Q7Z570 No chr2 185463093 185804214 184598366 184939487 +PA162410600 219578 HGNC:21958 ENSG00000182348 zinc finger protein 804B ZNF804B FLJ32110 Yes No Ensembl:ENSG00000182348, GeneCard:ZNF804B, HGNC:HGNC:21958, ModBase:A4D1E1, NCBI Gene:219578, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_857597, RefSeq RNA:NM_181646, UniProtKB:A4D1E1 No chr7 88388753 88966346 88759368 89337057 +PA162410601 390980 HGNC:23272 ENSG00000204524 zinc finger protein 805 ZNF805 Yes No Ensembl:ENSG00000204524, GeneCard:ZNF805, HGNC:HGNC:23272, NCBI Gene:390980, RefSeq DNA:NT_011109, RefSeq Protein:NP_001018857, RefSeq Protein:NP_001138550, RefSeq RNA:NM_001023563, RefSeq RNA:NM_001145078, UniProtKB:B4DNM5 No chr19 57752053 57774106 57240685 57262738 +PA162410633 388558 HGNC:33230 ENSG00000198482 zinc finger protein 808 ZNF808 Yes No Ensembl:ENSG00000198482, GeneCard:ZNF808, HGNC:HGNC:33230, ModBase:Q8N4W9, NCBI Gene:388558, RefSeq DNA:NT_011109, RefSeq Protein:NP_001034975, RefSeq RNA:NM_001039886, UniProtKB:Q8N4W9 No chr19 53030905 53059502 52527656 52566018 +PA37730 347344 HGNC:13156 ENSG00000197779 zinc finger protein 81 ZNF81 HFZ20, MRX45 Yes No Comparative Toxicogenomics Database:347344, Ensembl:ENSG00000197779, GenAtlas:ZNF81, GeneCard:ZNF81, HGNC:HGNC:13156, ModBase:P51508, NCBI Gene:347344, OMIM:300498, OMIM:314998, RefSeq DNA:NG_021266, RefSeq DNA:NT_079573, RefSeq Protein:NP_009068, RefSeq RNA:NM_007137, UniProtKB:P51508 No chrX 47696270 47781655 47836864 47925626 +PA162410661 126017 HGNC:33257 ENSG00000198346 zinc finger protein 813 ZNF813 FLJ16542 Yes No Ensembl:ENSG00000198346, GeneCard:ZNF813, HGNC:HGNC:33257, ModBase:Q6ZN06, NCBI Gene:126017, RefSeq DNA:NT_011109, RefSeq Protein:NP_001004301, RefSeq RNA:NM_001004301, UniProtKB:Q6ZN06 No chr19 53970989 53997546 53467735 53494292 +PA164727759 730051 HGNC:33258 ENSG00000204514 zinc finger protein 814 ZNF814 Yes No Ensembl:ENSG00000204514, GeneCard:ZNF814, HGNC:HGNC:33258, NCBI Gene:730051, RefSeq DNA:NT_011109, RefSeq Protein:NP_001138461, RefSeq RNA:NM_001144989, UniProtKB:B7Z6K7 No chr19 58380747 58400442 57869379 57889074 +PA165394953 125893 HGNC:26995 ENSG00000180257 zinc finger protein 816 ZNF816 ZNF816A Yes Yes Ensembl:ENSG00000180257, GeneCard:ZNF816, HGNC:HGNC:26995, NCBI Gene:125893, RefSeq DNA:NT_011109, RefSeq DNA:NT_011109.15, RefSeq Protein:NP_001026835, RefSeq Protein:NP_001189385, RefSeq Protein:NP_001189386, RefSeq RNA:NM_001031665, RefSeq RNA:NM_001031665.1, RefSeq RNA:NM_001202456, RefSeq RNA:NM_001202457, UniProtKB:Q0VGE8 No chr19 53452632 53466164 52949379 52962911 +PA162410689 55565 HGNC:28043 ENSG00000102984 zinc finger protein 821 ZNF821 Yes No Ensembl:ENSG00000102984, GeneCard:ZNF821, HGNC:HGNC:28043, HumanCyc Gene:HS12504, NCBI Gene:55565, RefSeq DNA:NT_010498, RefSeq Protein:NP_001188481, RefSeq Protein:NP_001188482, RefSeq Protein:NP_001188483, RefSeq Protein:NP_001188485, RefSeq Protein:NP_060000, RefSeq RNA:NM_001201552, RefSeq RNA:NM_001201553, RefSeq RNA:NM_001201554, RefSeq RNA:NM_001201556, RefSeq RNA:NM_017530, UniProtKB:O75541 No chr16 71893583 71918093 71859680 71886224 +PA162410690 55552 HGNC:30936 ENSG00000197933 zinc finger protein 823 ZNF823 ZFP 36 for a zinc finger protein HSZFP36 Yes No Ensembl:ENSG00000197933, GeneCard:ZNF823, HGNC:HGNC:30936, ModBase:P16415, NCBI Gene:55552, RefSeq DNA:NT_011295, RefSeq Protein:NP_001073962, RefSeq RNA:NM_001080493, UniProtKB:P16415 No chr19 11832080 11849824 11721265 11739009 +PA162410703 664701 HGNC:33875 ENSG00000231205 zinc finger protein 826, pseudogene ZNF826P FLJ44894 Yes No Ensembl:ENSG00000231205, HGNC:HGNC:33875, ModBase:Q6ZT77, NCBI Gene:664701, RefSeq DNA:NT_011295, RefSeq DNA:NT_011295.10, RefSeq Protein:NP_001034973, RefSeq RNA:NM_001039884, RefSeq RNA:NM_001039884.2, RefSeq RNA:NR_036455, UniProtKB:Q6ZT77 No chr19 20578626 20607771 20398658 20424965 +PA162410714 152485 HGNC:27193 ENSG00000151612 zinc finger protein 827 ZNF827 Yes No Ensembl:ENSG00000151612, GeneCard:ZNF827, HGNC:HGNC:27193, NCBI Gene:152485, RefSeq DNA:NT_016354, RefSeq Protein:NP_849157, RefSeq RNA:NM_178835, UniProtKB:Q17R98 No chr4 146681874 146859607 145757627 145939008 +PA162410750 374899 HGNC:34032 ENSG00000185869 zinc finger protein 829 ZNF829 DKFZp779O175 Yes No Ensembl:ENSG00000185869, GeneCard:ZNF829, HGNC:HGNC:34032, ModBase:Q3KNS6, NCBI Gene:374899, RefSeq DNA:NT_011109, RefSeq Protein:NP_001032309, RefSeq Protein:NP_001165450, RefSeq RNA:NM_001037232, RefSeq RNA:NM_001171979, UniProtKB:Q3KNS6 No chr19 37379026 37407193 36888124 36916387 +PA37731 55769 HGNC:13158 ENSG00000167766 zinc finger protein 83 ZNF83 FLJ11015, HPF1, ZNF816B Yes No Ensembl:ENSG00000167766, GenAtlas:ZNF83, GeneCard:ZNF83, HGNC:HGNC:13158, HumanCyc Gene:HS04696, ModBase:P51522, NCBI Gene:55769, OMIM:194558, RefSeq DNA:NT_011109, RefSeq Protein:NP_001099019, RefSeq Protein:NP_001099020, RefSeq Protein:NP_001099021, RefSeq Protein:NP_001099022, RefSeq Protein:NP_001099023, RefSeq Protein:NP_001099024, RefSeq Protein:NP_001229460, RefSeq Protein:NP_001229467, RefSeq Protein:NP_060770, RefSeq RNA:NM_001105549, RefSeq RNA:NM_001105550, RefSeq RNA:NM_001105551, RefSeq RNA:NM_001105552, RefSeq RNA:NM_001105553, RefSeq RNA:NM_001105554, RefSeq RNA:NM_001242531, RefSeq RNA:NM_001242538, RefSeq RNA:NM_018300, RefSeq RNA:NR_003936, UCSC Genome Browser:NM_018300, UniProtKB:A8MT75, UniProtKB:P51522, UniProtKB:Q96K00 No chr19 53115617 53193834 52612364 52690581 +PA162410767 91603 HGNC:28291 ENSG00000198783 zinc finger protein 830 ZNF830 hypothetical protein MGC20398, orphan maintenance of genome 1, sel-13 suppressor of lin-12 homolog (C. elegans) CCDC16, MGC20398, OMCG1, SEL13 Yes No Ensembl:ENSG00000198783, GeneCard:ZNF830, HGNC:HGNC:28291, NCBI Gene:91603, RefSeq DNA:NT_010799, RefSeq Protein:NP_443089, RefSeq RNA:NM_052857, UniProtKB:Q96NB3 No chr17 33288549 33290205 34961530 34963186 +PA162410774 128611 HGNC:16167 ENSG00000124203 zinc finger protein 831 ZNF831 C20orf174, dJ492J12.1 Yes No Ensembl:ENSG00000124203, GeneCard:ZNF831, HGNC:HGNC:16167, ModBase:Q5JPB2, NCBI Gene:128611, RefSeq DNA:NT_011362, RefSeq Protein:NP_848552, RefSeq RNA:NM_178457, UniProtKB:Q5JPB2 No chr20 57735895 57834168 59146073 59259113 +PA162410775 401898 HGNC:33819 ENSG00000267343 zinc finger protein 833, pseudogene ZNF833P Yes No Ensembl:ENSG00000267343, HGNC:HGNC:33819, ModBase:Q6ZTB9, NCBI Gene:401898, RefSeq DNA:NT_011295, RefSeq DNA:NT_011295.10, RefSeq Protein:NP_001013713, RefSeq RNA:NM_001013691, RefSeq RNA:NM_001013691.2, RefSeq RNA:NR_028594, UniProtKB:Q6ZTB9 No chr19 11784813 11797384 11673998 11686569 +PA162410787 90485 HGNC:34332 ENSG00000127903 zinc finger protein 835 ZNF835 BC37295_3 Yes No Ensembl:ENSG00000127903, GeneCard:ZNF835, HGNC:HGNC:34332, ModBase:Q9Y2P0, NCBI Gene:90485, RefSeq DNA:NT_011109, RefSeq Protein:NP_001005850, RefSeq RNA:NM_001005850, UniProtKB:Q9Y2P0 No chr19 57173729 57183151 56662652 56671783 +PA162410788 162962 HGNC:34333 ENSG00000196267 zinc finger protein 836 ZNF836 FLJ16287 Yes No Ensembl:ENSG00000196267, GeneCard:ZNF836, HGNC:HGNC:34333, ModBase:Q6ZNA1, NCBI Gene:162962, RefSeq DNA:NT_011109, RefSeq Protein:NP_001096127, RefSeq RNA:NM_001102657, UniProtKB:Q6ZNA1 No chr19 52658039 52674896 52153864 52171664 +PA162410789 116412 HGNC:25164 ENSG00000152475 zinc finger protein 837 ZNF837 Yes No Ensembl:ENSG00000152475, GeneCard:ZNF837, HGNC:HGNC:25164, ModBase:Q96EG3, NCBI Gene:116412, RefSeq DNA:NT_011109, RefSeq Protein:NP_001123202, RefSeq Protein:NP_612475, RefSeq RNA:NM_001129730, RefSeq RNA:NM_138466, UniProtKB:Q96EG3 No chr19 58878990 58892389 58367623 58381022 +PA162410800 55778 HGNC:20345 ENSG00000022976 zinc finger protein 839 ZNF839 C14orf131 Yes No Ensembl:ENSG00000022976, GeneCard:ZNF839, HGNC:HGNC:20345, HumanCyc Gene:HS00420, NCBI Gene:55778, RefSeq DNA:NT_026437, RefSeq Protein:NP_060805, RefSeq RNA:NM_018335, UniProtKB:A8K0R7 No chr14 102783714 102809511 102317377 102343174 +PA37732 7637 HGNC:13159 ENSG00000198040 zinc finger protein 84 ZNF84 HPF2 Yes No Ensembl:ENSG00000198040, GenAtlas:ZNF84, GeneCard:ZNF84, HGNC:HGNC:13159, HumanCyc Gene:HS01698, ModBase:P51523, NCBI Gene:7637, RefSeq DNA:NT_024477, RefSeq DNA:NT_167217, RefSeq Protein:NP_001120844, RefSeq Protein:NP_003419, RefSeq Protein:XP_003403629, RefSeq Protein:XP_003403630, RefSeq Protein:XP_003403631, RefSeq Protein:XP_003403632, RefSeq Protein:XP_003403633, RefSeq Protein:XP_003403634, RefSeq Protein:XP_003403635, RefSeq Protein:XP_003403636, RefSeq Protein:XP_003403637, RefSeq Protein:XP_003403638, RefSeq Protein:XP_003403639, RefSeq RNA:NM_001127372, RefSeq RNA:NM_003428, RefSeq RNA:XM_003403581, RefSeq RNA:XM_003403582, RefSeq RNA:XM_003403583, RefSeq RNA:XM_003403584, RefSeq RNA:XM_003403585, RefSeq RNA:XM_003403586, RefSeq RNA:XM_003403587, RefSeq RNA:XM_003403588, RefSeq RNA:XM_003403589, RefSeq RNA:XM_003403590, RefSeq RNA:XM_003403591, UCSC Genome Browser:NM_003428, UniProtKB:P51523 No chr12 133613878 133639885 133037286 133063304 +PA162410839 284371 HGNC:27611 ENSG00000197608 zinc finger protein 841 ZNF841 LOC284371 Yes No Ensembl:ENSG00000197608, GeneCard:ZNF841, HGNC:HGNC:27611, ModBase:Q6ZN19, NCBI Gene:284371, RefSeq DNA:NT_011109, RefSeq Protein:NP_001129971, RefSeq RNA:NM_001136499, UniProtKB:B9EG58 No chr19 52567719 52599021 52050028 52095780 +PA162410853 283933 HGNC:28710 ENSG00000176723 zinc finger protein 843 ZNF843 MGC46336 Yes No Ensembl:ENSG00000176723, GeneCard:ZNF843, HGNC:HGNC:28710, ModBase:Q8N446, NCBI Gene:283933, RefSeq DNA:NT_010393, RefSeq Protein:NP_001129981, RefSeq RNA:NM_001136509, UniProtKB:Q8N446 No chr16 31446885 31454348 31435564 31443027 +PA162410862 284391 HGNC:25932 ENSG00000223547 zinc finger protein 844 ZNF844 FLJ14959 Yes No Ensembl:ENSG00000223547, GeneCard:ZNF844, HGNC:HGNC:25932, ModBase:Q08AG5, NCBI Gene:284391, RefSeq DNA:NT_011295, RefSeq Protein:NP_001129973, RefSeq RNA:NM_001136501, UniProtKB:Q08AG5 No chr19 12175546 12188626 12064699 12081449 +PA162410863 91664 HGNC:25112 ENSG00000213799 zinc finger protein 845 ZNF845 Yes No Ensembl:ENSG00000213799, GeneCard:ZNF845, HGNC:HGNC:25112, ModBase:Q96IR2, NCBI Gene:91664, RefSeq DNA:NT_011109, RefSeq Protein:NP_612383, RefSeq RNA:NM_138374, UniProtKB:Q96IR2 No chr19 53837002 53858122 53333719 53356119 +PA162410876 162993 HGNC:27260 ENSG00000196605 zinc finger protein 846 ZNF846 Yes No Ensembl:ENSG00000196605, GeneCard:ZNF846, HGNC:HGNC:27260, ModBase:Q147U1, NCBI Gene:162993, RefSeq DNA:NT_011295, RefSeq Protein:NP_001071092, RefSeq RNA:NM_001077624, UniProtKB:Q147U1 No chr19 9867845 9896834 9749523 9786174 +PA164727771 100380945 HGNC:34387 zinc finger protein 848, pseudogene ZNF848P Yes No HGNC:HGNC:34387, NCBI Gene:100380945 No chr17 63172546 63173642 65176428 65177524 +PA162410892 100130108 HGNC:34389 ENSG00000198153 zinc finger protein 849, pseudogene ZNF849P Yes No Ensembl:ENSG00000198153, GeneCard:ZNF849P, HGNC:HGNC:34389, NCBI Gene:100130108, RefSeq DNA:NG_009810, RefSeq DNA:NT_011295 No chr19 22867595 22869129 22684793 22686327 +PA37733 7639 HGNC:13160 ENSG00000105750 zinc finger protein 85 ZNF85 HPF4, HTF1 Yes No Ensembl:ENSG00000105750, GenAtlas:ZNF85, GeneCard:ZNF85, HGNC:HGNC:13160, HumanCyc Gene:HS02810, NCBI Gene:7639, OMIM:603899, RefSeq DNA:NT_011295, RefSeq Protein:NP_003420, RefSeq RNA:NM_003429, RefSeq RNA:NR_034060, UCSC Genome Browser:NM_003429, UniProtKB:Q03923, UniProtKB:Q49A12 No chr19 21106059 21133503 20923227 20950697 +PA165395030 342892 HGNC:27994 ENSG00000267041 zinc finger protein 850 ZNF850 ZNF850P Yes No Ensembl:ENSG00000267041, GeneCard:ZNF850, HGNC:HGNC:27994, NCBI Gene:342892, RefSeq DNA:NG_008207, RefSeq DNA:NT_011109, RefSeq Protein:NP_001180481, RefSeq RNA:NM_001193552 No chr19 37234380 37263717 36743478 36772814 +PA162410901 285346 HGNC:27713 ENSG00000178917 zinc finger protein 852 ZNF852 Yes No Ensembl:ENSG00000178917, GeneCard:ZNF852, HGNC:HGNC:27713, NCBI Gene:285346, RefSeq DNA:NT_022517, RefSeq Protein:XP_001717454, RefSeq Protein:XP_001717596, RefSeq Protein:XP_001725122, RefSeq RNA:XM_001717402, RefSeq RNA:XM_001717544, RefSeq RNA:XM_001725070 No chr3 44539924 44552222 44498970 44510640 +PA162410913 54753 HGNC:21767 ENSG00000236609 zinc finger protein 853 ZNF853 DKFZp434J1015 Yes No Ensembl:ENSG00000236609, GeneCard:ZNF853, HGNC:HGNC:21767, NCBI Gene:54753, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_060030, RefSeq RNA:NM_017560, UniProtKB:P0CG23 No chr7 6655398 6663921 6615621 6624290 +PA164727772 100507490 HGNC:34507 ENSG00000215887 zinc finger protein 859, pseudogene ZNF859P Yes No Ensembl:ENSG00000215887, HGNC:HGNC:34507, NCBI Gene:100507490 No chr1 50310324 50312161 49844652 49846489 +PA164727773 344787 HGNC:34513 ENSG00000197385 zinc finger protein 860 ZNF860 Yes No Ensembl:ENSG00000197385, GeneCard:ZNF860, HGNC:HGNC:34513, NCBI Gene:344787, RefSeq DNA:NT_022517, RefSeq Protein:NP_001131146, RefSeq RNA:NM_001137674, UniProtKB:A6NHJ4 No chr3 32023266 32033228 31981774 32005112 +PA164727780 100302737 HGNC:34514 ENSG00000267235 zinc finger protein 861, pseudogene ZNF861P Yes No Ensembl:ENSG00000267235, HGNC:HGNC:34514, NCBI Gene:100302737 No chr19 15932803 15934597 15821993 15823787 +PA164727781 643641 HGNC:34519 ENSG00000106479 zinc finger protein 862 ZNF862 Yes No Ensembl:ENSG00000106479, GeneCard:ZNF862, HGNC:HGNC:34519, ModBase:O60290, NCBI Gene:643641, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001092690, RefSeq RNA:NM_001099220, UniProtKB:O60290 No chr7 149535464 149564568 149838420 149867479 +PA164727782 100419682 HGNC:35156 ENSG00000236538 zinc finger protein 863, pseudogene ZNF863P Yes No Ensembl:ENSG00000236538, HGNC:HGNC:35156, NCBI Gene:100419682 No chr2 52303236 52304578 52076098 52077440 +PA165395041 100507290 HGNC:38705 ENSG00000261221 zinc finger protein 865 ZNF865 Yes No Ensembl:ENSG00000261221, GeneCard:ZNF865, HGNC:HGNC:38705, NCBI Gene:100507290, RefSeq DNA:NT_011109, RefSeq Protein:XP_001718452, RefSeq Protein:XP_002345265, RefSeq RNA:XM_001718400, RefSeq RNA:XM_002345224 No chr19 56114880 56129911 55613593 55618545 +PA29306 284459 HGNC:4928 ENSG00000181666 zinc finger protein 875 ZNF875 """HKR1, GLI-Kruppel zinc finger family member"", ""oncogene HKR1""" HKR1, ZNF875 Yes No Ensembl:ENSG00000181666, GenAtlas:HKR1, GeneCard:HKR1, HGNC:HGNC:4928, ModBase:P10072, NCBI Gene:284459, OMIM:165250, RefSeq DNA:NT_011109, RefSeq Protein:NP_861451, RefSeq RNA:NM_181786, UCSC Genome Browser:NM_181786, UniProtKB:P10072 No chr19 37825580 37855357 37317900 37364455 +PA165392724 100873811 HGNC:38697 ENSG00000226875 zinc finger protein 877, pseudogene ZNF877P Yes No Ensembl:ENSG00000226875, HGNC:HGNC:38697, NCBI Gene:100873811 No chr20 21246701 21247062 21266063 21266424 +PA165395055 729747 HGNC:37246 ENSG00000257446 zinc finger protein 878 ZNF878 Yes No Ensembl:ENSG00000257446, GeneCard:ZNF878, HGNC:HGNC:37246, NCBI Gene:729747, RefSeq DNA:NT_011295, RefSeq Protein:NP_001073873, RefSeq RNA:NM_001080404, UniProtKB:C9JN71 No chr19 12154620 12163782 12043647 12052967 +PA165660603 345462 HGNC:37273 ENSG00000234284 zinc finger protein 879 ZNF879 DKFZp686E2433 Yes No Ensembl:ENSG00000234284, GeneCard:ZNF879, HGNC:HGNC:37273, NCBI Gene:345462, RefSeq DNA:NT_023133, RefSeq Protein:NP_001129588, RefSeq RNA:NM_001136116, UniProtKB:B4DU55 No chr5 178450776 178461388 179023759 179034387 +PA165395098 400713 HGNC:37249 ENSG00000221923 zinc finger protein 880 ZNF880 Yes No Ensembl:ENSG00000221923, GeneCard:ZNF880, HGNC:HGNC:37249, NCBI Gene:400713, RefSeq DNA:NT_011109, RefSeq Protein:NP_001138906, RefSeq RNA:NM_001145434, UniProtKB:Q6PDB4 No chr19 52873170 52889048 52369900 52393740 +PA165586440 169834 HGNC:27271 ENSG00000228623 zinc finger protein 883 ZNF883 Yes No Ensembl:ENSG00000228623, GeneCard:ZNF883, HGNC:HGNC:27271, NCBI Gene:169834, RefSeq DNA:NT_008470, RefSeq Protein:NP_001094808, RefSeq RNA:NM_001101338, UniProtKB:P0CG24 No chr9 115759400 115774472 112997120 113012192 +PA165395136 388559 HGNC:38695 ENSG00000213793 zinc finger protein 888 ZNF888 Yes No Ensembl:ENSG00000213793, GeneCard:ZNF888, HGNC:HGNC:38695, NCBI Gene:388559, RefSeq DNA:NT_011109, RefSeq Protein:XP_001725085, RefSeq Protein:XP_001725953, RefSeq Protein:XP_496322, RefSeq RNA:XM_001725033, RefSeq RNA:XM_001725901, RefSeq RNA:XM_496322 No chr19 53409168 53426930 52904417 52929161 +PA166165172 645700 HGNC:38691 ENSG00000159904 zinc finger protein 890, pseudogene ZNF890P Yes Yes Ensembl:ENSG00000159904, HGNC:HGNC:38691, NCBI Gene:645700 No chr7 5160941 5184177 5121310 5144546 +PA166049034 101060200 HGNC:38709 ENSG00000214029 zinc finger protein 891 ZNF891 Yes No Ensembl:ENSG00000214029, HGNC:HGNC:38709, NCBI Gene:101060200 No chr12 133696111 133707059 133116955 133130473 +PA166352328 344065 HGNC:38707 zinc finger protein 892 ZNF892 Yes No HGNC:HGNC:38707, NCBI Gene:344065 No 0 0 0 0 +PA37738 7643 HGNC:13165 ENSG00000213988 zinc finger protein 90 ZNF90 HTF9 Yes No Ensembl:ENSG00000213988, GenAtlas:ZNF90, GeneCard:ZNF90, HGNC:HGNC:13165, HumanCyc Gene:HS02617, NCBI Gene:7643, OMIM:603973, RefSeq DNA:NT_011295, RefSeq Protein:NP_009069, RefSeq RNA:NM_007138, UniProtKB:B9EH87, UniProtKB:Q03938 No chr19 20188803 20231977 20077994 20127032 +PA37477 7661 HGNC:12888 ENSG00000241738 zinc finger protein 90 pseudogene 1 ZNF90P1 Yes No Ensembl:ENSG00000241738, GenAtlas:ZNF108, GeneCard:ZNF90P1, HGNC:HGNC:12888, NCBI Gene:7661, OMIM:603990, RefSeq DNA:NT_005612 No chr3 101076137 101077477 101357293 101358633 +PA134986844 100419606 HGNC:21687 ENSG00000233366 zinc finger protein 90 pseudogene 2 ZNF90P2 dJ111M5.3 Yes No Ensembl:ENSG00000233366, GeneCard:ZNF463P, HGNC:HGNC:21687, NCBI Gene:100419606 No chr6 28856758 28857411 28888981 28889634 +PA37739 7644 HGNC:13166 ENSG00000167232 zinc finger protein 91 ZNF91 HPF7, HTF10 Yes No Comparative Toxicogenomics Database:7644, Ensembl:ENSG00000167232, GenAtlas:ZNF91, GeneCard:ZNF91, HGNC:HGNC:13166, ModBase:Q05481, NCBI Gene:7644, OMIM:603971, RefSeq DNA:NT_011295, RefSeq Protein:NP_003421, RefSeq RNA:NM_003430, UCSC Genome Browser:NM_003430, UniProtKB:Q05481 No chr19 23540498 23578269 23305004 23395560 +PA37740 168374 HGNC:13168 ENSG00000146757 zinc finger protein 92 ZNF92 HPF12, TF12 Yes No Ensembl:ENSG00000146757, GenAtlas:ZNF92, GeneCard:ZNF92, HGNC:HGNC:13168, HumanCyc Gene:HS14173, ModBase:Q03936, NCBI Gene:168374, OMIM:603974, RefSeq DNA:NT_007933, RefSeq DNA:NT_079593, RefSeq Protein:NP_009070, RefSeq Protein:NP_689839, RefSeq RNA:NM_007139, RefSeq RNA:NM_152626, UCSC Genome Browser:NM_007139, UniProtKB:Q03936 No chr7 64838752 64866049 65373799 65401135 +PA37741 81931 HGNC:13169 ENSG00000184635 zinc finger protein 93 ZNF93 FLJ12488, HPF34, TF34, ZNF505 Yes No Ensembl:ENSG00000184635, GenAtlas:ZNF93, GeneCard:ZNF93, HGNC:HGNC:13169, ModBase:P35789, NCBI Gene:81931, OMIM:603975, RefSeq DNA:NT_011295, RefSeq Protein:NP_112495, RefSeq RNA:NM_031218, UniProtKB:P35789, UniProtKB:Q6NS90 No chr19 20011722 20046382 19900913 19935573 +PA37746 148198 HGNC:13174 ENSG00000197360 zinc finger protein 98 ZNF98 zinc finger protein 739 F7175, ZNF739 Yes No Ensembl:ENSG00000197360, GenAtlas:ZNF98, GeneCard:ZNF98, HGNC:HGNC:13174, NCBI Gene:148198, OMIM:603980, RefSeq DNA:NT_011295, RefSeq Protein:NP_001092096, RefSeq RNA:NM_001098626 No chr19 22573899 22605148 22391011 22422628 +PA37747 7652 HGNC:13175 ENSG00000213973 zinc finger protein 99 ZNF99 C19orf9, MGC24986 Yes No Ensembl:ENSG00000213973, GenAtlas:ZNF99, GeneCard:ZNF99, HGNC:HGNC:13175, ModBase:A8MXY4, NCBI Gene:7652, OMIM:603981, RefSeq DNA:NT_011295, RefSeq Protein:NP_001073878, RefSeq RNA:NM_001080409, UniProtKB:A8MXY4 No chr19 22934985 22966973 22752183 22784171 +PA143485687 57169 HGNC:29271 ENSG00000124201 zinc finger NFX1-type containing 1 ZNFX1 zinc finger, NFX1-type containing 1 FLJ11277, KIAA1404 Yes No Comparative Toxicogenomics Database:57169, Ensembl:ENSG00000124201, GeneCard:ZNFX1, HGNC:HGNC:29271, ModBase:Q9P2E3, NCBI Gene:57169, RefSeq DNA:NT_011362, RefSeq Protein:NP_066363, RefSeq RNA:NM_021035, UniProtKB:Q9P2E3 No chr20 47862437 47894756 49245897 49278244 +PA26124 55871 HGNC:17134 ENSG00000172785 Zn regulated GTPase metalloprotein activator 1A ZNG1A COBW domain containing 1 CBWD1 Yes No Ensembl:ENSG00000172785, GenAtlas:CBWD1, GeneCard:CBWD1, HGNC:HGNC:17134, HumanCyc Gene:HS13633, HumanCyc Gene:HS14228, HumanCyc Gene:HS15263, ModBase:Q7Z652, NCBI Gene:55871, OMIM:611078, RefSeq DNA:NT_008413, RefSeq Protein:NP_001138827, RefSeq Protein:NP_001138828, RefSeq Protein:NP_060961, RefSeq RNA:NM_001145355, RefSeq RNA:NM_001145356, RefSeq RNA:NM_018491, UniProtKB:Q9BRT8 No chr9 121038 179077 121038 179083 +PA26125 150472 HGNC:17907 ENSG00000136682 Zn regulated GTPase metalloprotein activator 1B ZNG1B COBW domain containing 2 CBWD2 Yes No Ensembl:ENSG00000136682, GenAtlas:CBWD2, GeneCard:CBWD2, HGNC:HGNC:17907, ModBase:Q8IUF1, NCBI Gene:150472, OMIM:611079, RefSeq DNA:NT_022135, RefSeq Protein:NP_742000, RefSeq Protein:XP_002345609, RefSeq RNA:NM_172003, RefSeq RNA:XM_002345568, UCSC Genome Browser:NM_172003, UniProtKB:Q8IUF1 No chr2 114195268 114253781 113437691 113496204 +PA134863724 445571 HGNC:18519 ENSG00000196873 Zn regulated GTPase metalloprotein activator 1C ZNG1C COBW domain containing 3 CBWD3, bA561O23.1 Yes No Ensembl:ENSG00000196873, GeneCard:CBWD3, HGNC:HGNC:18519, ModBase:Q5JTY5, NCBI Gene:445571, OMIM:611080, RefSeq DNA:NT_008470, RefSeq Protein:NP_958861, RefSeq RNA:NM_201453, UniProtKB:Q5JTY5, UniProtKB:Q6VB91 No chr9 70856839 70914932 68232437 68300035 +PA142672196 220869 HGNC:24584 ENSG00000147996 Zn regulated GTPase metalloprotein activator 1E ZNG1E COBW domain containing 5, dopamine responsive protein CBWD5 Yes No Ensembl:ENSG00000147996, GeneCard:CBWD5, HGNC:HGNC:24584, ModBase:Q5RIA9, NCBI Gene:220869, RefSeq DNA:NT_113816, RefSeq Protein:NP_001020087, RefSeq RNA:NM_001024916 No chr9 70432004 70490171 65666374 65734041 +PA145149332 644019 HGNC:31978 ENSG00000215126 Zn regulated GTPase metalloprotein activator 1F ZNG1F COBW domain containing 6 CBWD6, CBWD7, OTTHUMG00000066820, OTTHUMG00000067194 Yes No Ensembl:ENSG00000215126, GeneCard:CBWD6, HGNC:HGNC:31978, ModBase:Q4V339, NCBI Gene:644019, RefSeq DNA:NT_078070, RefSeq Protein:NP_001078926, RefSeq RNA:NM_001085457, UniProtKB:Q4V339 No chr9 69204538 69262593 41131309 41198865 +PA134947251 10467 HGNC:21688 ENSG00000106400 zinc finger HIT-type containing 1 ZNHIT1 """putative cyclin G1 interacting protein"", ""zinc finger, HIT-type containing 1""" CG1I, H_DJ0747G18.14, ZNFN4A1, p18(Hamlet) Yes No Comparative Toxicogenomics Database:10467, Ensembl:ENSG00000106400, GeneCard:ZNHIT1, HGNC:HGNC:21688, HumanCyc Gene:HS02904, ModBase:O43257, NCBI Gene:10467, RefSeq DNA:NT_007933, RefSeq DNA:NT_079596, RefSeq Protein:NP_006340, RefSeq RNA:NM_006349, UniProtKB:O43257 No chr7 100860985 100867471 101217704 101224191 +PA25496 741 HGNC:1177 ENSG00000174276 zinc finger HIT-type containing 2 ZNHIT2 zinc finger, HIT-type containing 2 C11orf5, FON Yes No Comparative Toxicogenomics Database:741, Ensembl:ENSG00000174276, GenAtlas:ZNHIT2, GeneCard:ZNHIT2, HGNC:HGNC:1177, HumanCyc Gene:HS16318, ModBase:Q9UHR6, NCBI Gene:741, OMIM:604575, RefSeq DNA:NT_167190, RefSeq Protein:NP_055020, RefSeq RNA:NM_014205, UCSC Genome Browser:NM_014205, UniProtKB:Q9UHR6 No chr11 64883875 64885170 65116403 65117738 +PA36987 9326 HGNC:12309 ENSG00000273611 zinc finger HIT-type containing 3 ZNHIT3 zinc finger, HIT-type containing 3 Hit1, TRIP3 Yes No Ensembl:ENSG00000273611, GenAtlas:ZNHIT3, GeneCard:ZNHIT3, HGNC:HGNC:12309, HumanCyc Gene:HS03081, ModBase:Q15649, NCBI Gene:9326, OMIM:604500, RefSeq DNA:NT_010783, RefSeq Protein:NP_004764, RefSeq RNA:NM_004773, UCSC Genome Browser:NM_004773, UniProtKB:Q15649 No chr17 34842471 34855154 36486627 36499310 +PA162410929 54680 HGNC:26089 ENSG00000117174 zinc finger HIT-type containing 6 ZNHIT6 """box C/D snoRNA essential 1 homolog (S. cerevisiae)"", ""zinc finger, HIT-type containing 6""" BCD1, C1orf181, FLJ20729, NY-BR-75 Yes No Ensembl:ENSG00000117174, GeneCard:ZNHIT6, HGNC:HGNC:26089, HumanCyc Gene:HS12893, NCBI Gene:54680, RefSeq DNA:NT_032977, RefSeq Protein:NP_001164141, RefSeq Protein:NP_060423, RefSeq RNA:NM_001170670, RefSeq RNA:NM_017953, UniProtKB:B4DP13, UniProtKB:Q9NWK9 No chr1 86115106 86174116 85649423 85708447 +PA165618433 80862 HGNC:13924 ZNRD1 antisense RNA 1 ZNRD1-AS1 Em:AB023056.3, HTEX4 Yes Yes GeneCard:ZNRD1AS, HGNC:HGNC:13924, NCBI Gene:80862, RefSeq DNA:NT_007592, RefSeq DNA:NT_113891, RefSeq DNA:NT_113893, RefSeq DNA:NT_167244, RefSeq DNA:NT_167245, RefSeq DNA:NT_167246, RefSeq DNA:NT_167247, RefSeq DNA:NT_167248, RefSeq DNA:NT_167249, RefSeq RNA:NR_026751, RefSeq RNA:XR_041144, RefSeq RNA:XR_041145 No chr6 29968788 30028961 30001011 30061184 +PA36152 10534 HGNC:11328 ENSG00000173465 zinc ribbon domain containing 2 ZNRD2 Sjogren syndrome/scleroderma autoantigen 1 SSSCA1, p27 Yes No Comparative Toxicogenomics Database:10534, Ensembl:ENSG00000173465, GenAtlas:SSSCA1, GeneCard:SSSCA1, HGNC:HGNC:11328, HumanCyc Gene:HS10670, ModBase:O60232, NCBI Gene:10534, OMIM:606044, RefSeq DNA:NT_167190, RefSeq Protein:NP_006387, RefSeq RNA:NM_006396, UCSC Genome Browser:NM_006396, UniProtKB:O60232 No chr11 65336651 65340075 65570459 65571888 +PA134938288 84937 HGNC:18452 ENSG00000186187 zinc and ring finger 1 ZNRF1 zinc and ring finger 1, E3 ubiquitin protein ligase DKFZp434E229, FLJ14846, nin283 Yes No Comparative Toxicogenomics Database:84937, Ensembl:ENSG00000186187, GeneCard:ZNRF1, HGNC:HGNC:18452, HumanCyc Gene:HS15488, ModBase:Q8ND25, NCBI Gene:84937, OMIM:612060, RefSeq DNA:NT_010498, RefSeq Protein:NP_115644, RefSeq RNA:NM_032268, UniProtKB:Q8ND25 No chr16 75032915 75144892 74999017 75110994 +PA134961488 223082 HGNC:22316 ENSG00000180233 zinc and ring finger 2 ZNRF2 """zinc and ring finger 2"", ""zinc and ring finger 2, E3 ubiquitin protein ligase""" RNF202 Yes No Ensembl:ENSG00000180233, GeneCard:ZNRF2, HGNC:HGNC:22316, HumanCyc Gene:HS17458, ModBase:Q8NHG8, NCBI Gene:223082, OMIM:612061, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_667339, RefSeq RNA:NM_147128, UniProtKB:Q8NHG8 No chr7 30323923 30407308 30284307 30367692 +PA134983897 84133 HGNC:18126 ENSG00000183579 zinc and ring finger 3 ZNRF3 BK747E2.3, FLJ22057, KIAA1133, RNF203 Yes No Ensembl:ENSG00000183579, GeneCard:ZNRF3, HGNC:HGNC:18126, NCBI Gene:84133, OMIM:612062, RefSeq DNA:NT_011520, RefSeq Protein:NP_001193927, RefSeq Protein:NP_115549, RefSeq RNA:NM_001206998, RefSeq RNA:NM_032173, UniProtKB:Q9ULT6 No chr22 29279755 29453476 28800657 29057488 +PA134943871 148066 HGNC:17726 ENSG00000105428 zinc and ring finger 4 ZNRF4 nixin, sperizin RNF204, Ssrzf1, spzn Yes No Ensembl:ENSG00000105428, GeneCard:ZNRF4, HGNC:HGNC:17726, ModBase:Q8WWF5, NCBI Gene:148066, OMIM:612063, RefSeq DNA:NT_011255, RefSeq Protein:NP_859061, RefSeq RNA:NM_181710, UniProtKB:Q8WWF5 No chr19 5455426 5456867 5455415 5456856 +PA37755 22917 HGNC:13187 ENSG00000149506 zona pellucida glycoprotein 1 ZP1 zona pellucida glycoprotein 1 (sperm receptor) ZPB1 Yes No Comparative Toxicogenomics Database:22917, Ensembl:ENSG00000149506, GenAtlas:ZP1, GeneCard:ZP1, HGNC:HGNC:13187, ModBase:P60852, NCBI Gene:22917, OMIM:195000, RefSeq DNA:NT_167190, RefSeq Protein:NP_997224, RefSeq RNA:NM_207341, UniProtKB:P60852 No chr11 60635015 60643164 60867542 60875693 +PA37756 7783 HGNC:13188 ENSG00000103310 zona pellucida glycoprotein 2 ZP2 zona pellucida 2, zona pellucida glycoprotein 2 (sperm receptor) ZPA Yes No Comparative Toxicogenomics Database:7783, Ensembl:ENSG00000103310, GenAtlas:ZP2, GeneCard:ZP2, HGNC:HGNC:13188, HumanCyc Gene:HS02486, ModBase:Q05996, NCBI Gene:7783, OMIM:182888, RefSeq DNA:NT_010393, RefSeq Protein:NP_003451, RefSeq RNA:NM_003460, UCSC Genome Browser:NM_003460, UniProtKB:Q05996 No chr16 21208773 21225831 21197452 21214510 +PA37757 7784 HGNC:13189 ENSG00000188372 zona pellucida glycoprotein 3 ZP3 zona pellucida glycoprotein 3 (sperm receptor) ZP3-372, ZP3-424, ZP3A, ZP3B, ZPC Yes No Comparative Toxicogenomics Database:7784, Ensembl:ENSG00000188372, GenAtlas:ZP3, GeneCard:ZP3, HGNC:HGNC:13189, HumanCyc Gene:HS11183, NCBI Gene:7784, OMIM:182889, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_001103824, RefSeq Protein:NP_009086, RefSeq RNA:NM_001110354, RefSeq RNA:NM_007155, UCSC Genome Browser:NM_007155, UniProtKB:P21754 No chr7 76026841 76071388 76397524 76442071 +PA38036 57829 HGNC:15770 ENSG00000116996 zona pellucida glycoprotein 4 ZP4 ZP1B, ZPB, ZPB2 Yes No Ensembl:ENSG00000116996, GenAtlas:ZP4, GeneCard:ZP4, HGNC:HGNC:15770, HumanCyc Gene:HS04080, ModBase:Q12836, NCBI Gene:57829, OMIM:613514, RefSeq DNA:NT_167186, RefSeq Protein:NP_067009, RefSeq RNA:NM_021186, UCSC Genome Browser:NM_021186, UniProtKB:Q12836 No chr1 238041164 238054222 237877864 237890922 +PA38013 11055 HGNC:15662 ENSG00000042813 zona pellucida binding protein ZPBP SP38, ZPBP1 Yes No Ensembl:ENSG00000042813, GenAtlas:ZPBP, GeneCard:ZPBP, HGNC:HGNC:15662, HumanCyc Gene:HS00564, NCBI Gene:11055, OMIM:608498, RefSeq DNA:NT_007819, RefSeq DNA:NT_079592, RefSeq Protein:NP_001153350, RefSeq Protein:NP_008940, RefSeq RNA:NM_001159878, RefSeq RNA:NM_007009, UCSC Genome Browser:NM_007009, UniProtKB:C9JPU1, UniProtKB:Q9BS86 No chr7 49977023 50132860 49846355 50093264 +PA134894503 124626 HGNC:20678 ENSG00000186075 zona pellucida binding protein 2 ZPBP2 MGC41930, ZPBPL Yes No Comparative Toxicogenomics Database:124626, Ensembl:ENSG00000186075, GeneCard:ZPBP2, HGNC:HGNC:20678, NCBI Gene:124626, OMIM:608499, RefSeq DNA:NT_010783, RefSeq Protein:NP_942141, RefSeq Protein:NP_955353, RefSeq RNA:NM_198844, RefSeq RNA:NM_199321, UniProtKB:Q6X784 No chr17 38024417 38034149 39868164 39877896 +PA142670472 131368 HGNC:27022 ENSG00000170044 zona pellucida like domain containing 1 ZPLD1 zona pellucida-like domain containing 1 Yes No Ensembl:ENSG00000170044, GeneCard:ZPLD1, HGNC:HGNC:27022, NCBI Gene:131368, RefSeq DNA:NT_005612, RefSeq Protein:NP_778226, RefSeq RNA:NM_175056, UniProtKB:Q8TCW7 No chr3 101928816 102198685 102385144 102479841 +PA37629 8882 HGNC:13051 ENSG00000109917 ZPR1 zinc finger ZPR1 zinc finger protein 259 ZNF259, ZPR1 Yes No Ensembl:ENSG00000109917, GenAtlas:ZNF259, GeneCard:ZNF259, HGNC:HGNC:13051, HumanCyc Gene:HS03267, ModBase:O75312, NCBI Gene:8882, OMIM:603901, RefSeq DNA:NT_033899, RefSeq Protein:NP_003895, RefSeq RNA:NM_003904, UCSC Genome Browser:NM_003904, UniProtKB:O75312 No chr11 116649276 116658739 116778189 116789272 +PA134933584 54764 HGNC:18224 ENSG00000019995 zinc finger RANBP2-type containing 1 ZRANB1 zinc finger, RAN-binding domain containing 1 TRABID Yes No Ensembl:ENSG00000019995, GeneCard:ZRANB1, HGNC:HGNC:18224, HumanCyc Gene:HS12061, ModBase:Q9UGI0, NCBI Gene:54764, OMIM:611749, RefSeq DNA:NT_030059, RefSeq Protein:NP_060050, RefSeq RNA:NM_017580, UniProtKB:Q9UGI0 No chr10 126605704 126676005 124916896 124988059 +PA37636 9406 HGNC:13058 ENSG00000132485 zinc finger RANBP2-type containing 2 ZRANB2 zinc finger, RAN-binding domain containing 2 ZIS, ZIS1, ZIS2, ZNF265 Yes No Comparative Toxicogenomics Database:9406, Ensembl:ENSG00000132485, GenAtlas:ZRANB2, GeneCard:ZRANB2, HGNC:HGNC:13058, HumanCyc Gene:HS05645, ModBase:O95218, NCBI Gene:9406, OMIM:604347, RefSeq DNA:NT_032977, RefSeq Protein:NP_005446, RefSeq Protein:NP_976225, RefSeq RNA:NM_005455, RefSeq RNA:NM_203350, UCSC Genome Browser:NM_005455, UniProtKB:O95218 No chr1 71528974 71546972 71063291 71081289 +PA134871612 84083 HGNC:25249 ENSG00000121988 zinc finger RANBP2-type containing 3 ZRANB3 """annealing helicase 2"", ""zinc finger, RAN-binding domain containing 3""" AH2, DKFZP434B1727 Yes No Comparative Toxicogenomics Database:84083, Ensembl:ENSG00000121988, GeneCard:ZRANB3, HGNC:HGNC:25249, HumanCyc Gene:HS04536, ModBase:Q5FWF4, NCBI Gene:84083, RefSeq DNA:NT_022135, RefSeq Protein:NP_115519, RefSeq RNA:NM_032143, UniProtKB:Q5FWF4 No chr2 135954539 136288806 135164703 135531322 +PA162410930 8233 HGNC:23019 ENSG00000169249 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 U2AF1-RS2, U2AF1L2, URP, ZC3H22 Yes No Ensembl:ENSG00000169249, GeneCard:ZRSR2, HGNC:HGNC:23019, HumanCyc Gene:HS09915, ModBase:Q15696, NCBI Gene:8233, OMIM:300028, RefSeq DNA:NG_012746, RefSeq DNA:NT_167197, RefSeq Protein:NP_005080, RefSeq RNA:NM_005089, UniProtKB:Q15696 No chrX 15808574 15841383 15789723 15825718 +PA134933489 284312 HGNC:23712 ENSG00000152467 zinc finger and SCAN domain containing 1 ZSCAN1 FLJ33779, ZNF915 Yes No Ensembl:ENSG00000152467, GeneCard:ZSCAN1, HGNC:HGNC:23712, ModBase:Q8NBB4, NCBI Gene:284312, RefSeq DNA:NT_011109, RefSeq Protein:NP_872378, RefSeq RNA:NM_182572 No chr19 58545434 58565999 58033989 58058907 +PA162410957 84891 HGNC:12997 ENSG00000130182 zinc finger and SCAN domain containing 10 ZSCAN10 ZNF206 Yes No Ensembl:ENSG00000130182, GeneCard:ZSCAN10, HGNC:HGNC:12997, HumanCyc Gene:HS05349, ModBase:Q96SZ4, NCBI Gene:84891, RefSeq DNA:NT_010393, RefSeq Protein:NP_116194, RefSeq RNA:NM_032805, UniProtKB:Q96SZ4 No chr16 3138895 3149293 3088890 3099317 +PA37744 9753 HGNC:13172 ENSG00000158691 zinc finger and SCAN domain containing 12 ZSCAN12 KIAA0426, ZFP96, ZNF29K1, ZNF305, ZNF96, dJ29K1.2 Yes No Ensembl:ENSG00000158691, GenAtlas:ZNF96, GeneCard:ZNF96, GeneCard:ZSCAN12, HGNC:HGNC:13172, HumanCyc Gene:HS10666, NCBI Gene:9753, OMIM:603978, RefSeq DNA:NT_007592, RefSeq Protein:NP_001034732, RefSeq Protein:NP_001138515, RefSeq Protein:NP_001156863, RefSeq RNA:NM_001039643, RefSeq RNA:NM_001145043, RefSeq RNA:NM_001163391, RefSeq RNA:NR_028077, UniProtKB:O43309 No chr6 28346598 28367544 28378821 28399768 +PA162410958 80345 HGNC:20813 ENSG00000196812 zinc finger and SCAN domain containing 16 ZSCAN16 FLJ22191, ZNF392, ZNF435, dJ265C24.3 Yes No Ensembl:ENSG00000196812, GeneCard:ZSCAN16, HGNC:HGNC:20813, HumanCyc Gene:HS10671, NCBI Gene:80345, RefSeq DNA:NT_007592, RefSeq Protein:NP_079507, RefSeq RNA:NM_025231, UniProtKB:Q9H4T2 No chr6 28092334 28097864 28123753 28130086 +PA162410959 65982 HGNC:21037 ENSG00000121413 zinc finger and SCAN domain containing 18 ZSCAN18 FLJ12895, ZNF447 Yes No Ensembl:ENSG00000121413, GeneCard:ZSCAN18, HGNC:HGNC:21037, HumanCyc Gene:HS04496, ModBase:Q8TBC5, NCBI Gene:65982, RefSeq DNA:NT_011109, RefSeq Protein:NP_001139014, RefSeq Protein:NP_001139015, RefSeq Protein:NP_001139016, RefSeq Protein:NP_076415, RefSeq RNA:NM_001145542, RefSeq RNA:NM_001145543, RefSeq RNA:NM_001145544, RefSeq RNA:NM_023926, RefSeq RNA:NR_027135, UniProtKB:B4DG23, UniProtKB:Q8TBC5 No chr19 58595204 58629793 58083834 58118433 +PA134941325 54993 HGNC:20994 ENSG00000176371 zinc finger and SCAN domain containing 2 ZSCAN2 FLJ20595, ZFP29, ZNF854 Yes No Ensembl:ENSG00000176371, GeneCard:ZSCAN2, HGNC:HGNC:20994, HumanCyc Gene:HS11041, ModBase:Q7Z7L9, NCBI Gene:54993, RefSeq DNA:NT_010274, RefSeq Protein:NP_001007073, RefSeq Protein:NP_060364, RefSeq Protein:NP_870992, RefSeq RNA:NM_001007072, RefSeq RNA:NM_017894, RefSeq RNA:NM_181877, UniProtKB:A6NG83, UniProtKB:Q7Z7L9 No chr15 85144249 85166947 84600986 84623716 +PA37668 7579 HGNC:13093 ENSG00000121903 zinc finger and SCAN domain containing 20 ZSCAN20 KOX29, ZNF31, ZNF360 Yes No Ensembl:ENSG00000121903, GenAtlas:ZNF31, GeneCard:ZNF31, GeneCard:ZSCAN20, HGNC:HGNC:13093, HumanCyc Gene:HS04531, NCBI Gene:7579, OMIM:611315, RefSeq DNA:NT_032977, RefSeq Protein:NP_660281, RefSeq RNA:NM_145238, UCSC Genome Browser:NM_145238, UniProtKB:P17040 No chr1 33938232 33962105 33472591 33504253 +PA162410981 7589 HGNC:13104 ENSG00000166529 zinc finger and SCAN domain containing 21 ZSCAN21 DKFZp434L134, NY-REN-21, ZNF38, Zipro1 Yes No Ensembl:ENSG00000166529, GeneCard:ZSCAN21, HGNC:HGNC:13104, HumanCyc Gene:HS09416, ModBase:Q9Y5A6, NCBI Gene:7589, OMIM:601261, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_666019, RefSeq RNA:NM_145914, UniProtKB:Q9Y5A6 No chr7 99647390 99662663 100049770 100065041 +PA29307 342945 HGNC:4929 ENSG00000182318 zinc finger and SCAN domain containing 22 ZSCAN22 oncogene HKR2 HKR2, ZNF50 Yes No Ensembl:ENSG00000182318, GenAtlas:HKR2, GeneCard:HKR2, GeneCard:ZSCAN22, HGNC:HGNC:4929, NCBI Gene:342945, OMIM:165260, RefSeq DNA:NT_011109, RefSeq Protein:NP_862829, RefSeq RNA:NM_181846, UCSC Genome Browser:NM_181846, UniProtKB:P10073 No chr19 58838385 58853712 58327000 58342346 +PA162410995 222696 HGNC:21193 ENSG00000187987 zinc finger and SCAN domain containing 23 ZSCAN23 ZNF390, ZNF453, dJ29K1.3.1 Yes No Ensembl:ENSG00000187987, GeneCard:ZSCAN23, HGNC:HGNC:21193, NCBI Gene:222696, RefSeq DNA:NT_007592, RefSeq Protein:NP_001012458, RefSeq RNA:NM_001012455, UniProtKB:Q3MJ62 No chr6 28399373 28411279 28425516 28443554 +PA134962723 221785 HGNC:21961 ENSG00000197037 zinc finger and SCAN domain containing 25 ZSCAN25 FLJ32468, ZNF498 Yes Yes Comparative Toxicogenomics Database:221785, Ensembl:ENSG00000197037, GeneCard:ZNF498, HGNC:HGNC:21961, HumanCyc Gene:HS17262, ModBase:Q6NSZ9, NCBI Gene:221785, RefSeq DNA:NG_000004, RefSeq DNA:NT_007933, RefSeq DNA:NT_079595, RefSeq Protein:NP_660090, RefSeq RNA:NM_145115, UniProtKB:Q6NSZ9 No chr7 99214571 99275204 99616600 99738689 +PA37559 7741 HGNC:12978 ENSG00000197062 zinc finger and SCAN domain containing 26 ZSCAN26 SRE-ZBP, ZNF187 Yes No Ensembl:ENSG00000197062, GenAtlas:ZNF187, GeneCard:ZNF187, HGNC:HGNC:12978, HumanCyc Gene:HS06286, NCBI Gene:7741, RefSeq DNA:NT_007592, RefSeq Protein:NP_001018854, RefSeq Protein:NP_001104509, RefSeq Protein:NP_689949, RefSeq RNA:NM_001023560, RefSeq RNA:NM_001111039, RefSeq RNA:NM_152736, UCSC Genome Browser:NM_152736, UniProtKB:Q16670 No chr6 28234788 28246001 28267010 28278224 +PA162411015 146050 HGNC:26673 ENSG00000140265 zinc finger and SCAN domain containing 29 ZSCAN29 FLJ35867, ZNF690, Zfp690 Yes No Ensembl:ENSG00000140265, GeneCard:ZSCAN29, HGNC:HGNC:26673, HumanCyc Gene:HS06693, ModBase:Q8IWY8, NCBI Gene:146050, RefSeq DNA:NT_010194, RefSeq Protein:NP_689668, RefSeq RNA:NM_152455, UniProtKB:Q8IWY8, UniProtKB:Q96AG1 No chr15 43650370 43663226 43358172 43371032 +PA165429212 100101467 HGNC:33517 ENSG00000186814 zinc finger and SCAN domain containing 30 ZSCAN30 ZNF397OS, ZNF917 Yes No Ensembl:ENSG00000186814, GeneCard:ZSCAN30, HGNC:HGNC:33517, ModBase:Q86W11, NCBI Gene:100101467, RefSeq DNA:NT_010966, RefSeq DNA:NT_010966.13, RefSeq Protein:NP_001106205, RefSeq Protein:NP_001159484, RefSeq Protein:XP_001720123, RefSeq Protein:XP_001722432, RefSeq Protein:XP_001723287, RefSeq RNA:NM_001112734, RefSeq RNA:NM_001112734.1, RefSeq RNA:NM_001166012, RefSeq RNA:XM_001720071, RefSeq RNA:XM_001720071.1, RefSeq RNA:XM_001722380, RefSeq RNA:XM_001722380.1, RefSeq RNA:XM_001723235, RefSeq RNA:XM_001723235.1, UniProtKB:Q86W11 No chr18 32831023 32870196 35251058 35290261 +PA37840 64288 HGNC:14097 ENSG00000235109 zinc finger and SCAN domain containing 31 ZSCAN31 ZNF310P, ZNF323 Yes No Ensembl:ENSG00000235109, GenAtlas:ZNF323, GeneCard:ZNF323, HGNC:HGNC:14097, HumanCyc Gene:HS10667, ModBase:Q96LW9, NCBI Gene:64288, OMIM:610794, RefSeq DNA:NT_007592, RefSeq Protein:NP_001128687, RefSeq Protein:NP_001128688, RefSeq Protein:NP_112161, RefSeq Protein:NP_665916, RefSeq RNA:NM_001135215, RefSeq RNA:NM_001135216, RefSeq RNA:NM_030899, RefSeq RNA:NM_145909, RefSeq RNA:NR_024164, RefSeq RNA:NR_024165, UCSC Genome Browser:NM_030899, UniProtKB:B3KTA4, UniProtKB:Q96LW9, UniProtKB:Q96QL1 No chr6 28292514 28321972 28324737 28358202 +PA134902932 54925 HGNC:20812 ENSG00000140987 zinc finger and SCAN domain containing 32 ZSCAN32 FLJ20417, ZNF434 Yes No Ensembl:ENSG00000140987, GeneCard:ZNF434, HGNC:HGNC:20812, HumanCyc Gene:HS06784, ModBase:Q9NX65, NCBI Gene:54925, RefSeq DNA:NT_010393, RefSeq Protein:NP_060280, RefSeq RNA:NM_017810, UniProtKB:Q9NX65 No chr16 3431661 3451065 3382081 3401065 +PA134878313 201516 HGNC:23709 ENSG00000180532 zinc finger and SCAN domain containing 4 ZSCAN4 FLJ35105, ZNF494 Yes No Ensembl:ENSG00000180532, GeneCard:ZSCAN4, HGNC:HGNC:23709, HumanCyc Gene:HS11504, ModBase:Q8NAM6, NCBI Gene:201516, OMIM:613419, RefSeq DNA:NT_011109, RefSeq Protein:NP_689890, RefSeq RNA:NM_152677, UniProtKB:Q8NAM6 No chr19 58180303 58190520 57651497 57679152 +PA162411030 79149 HGNC:23710 ENSG00000131848 zinc finger and SCAN domain containing 5A ZSCAN5A MGC4161, ZNF495, ZSCAN5 Yes No Ensembl:ENSG00000131848, GeneCard:ZSCAN5A, HGNC:HGNC:23710, HumanCyc Gene:HS05577, NCBI Gene:79149, RefSeq DNA:NT_011109, RefSeq Protein:NP_077279, RefSeq RNA:NM_024303, UniProtKB:Q9BUG6 No chr19 56732672 56826208 56221303 56368383 +PA162411031 342933 HGNC:34246 ENSG00000197213 zinc finger and SCAN domain containing 5B ZSCAN5B ZNF371, ZNF495B Yes No Ensembl:ENSG00000197213, GeneCard:ZSCAN5B, HGNC:HGNC:34246, NCBI Gene:342933, RefSeq DNA:NT_011109, RefSeq Protein:NP_001073925, RefSeq RNA:NM_001080456, UniProtKB:A6NJL1 No chr19 56701058 56709207 56189689 56197890 +PA162411044 649137 HGNC:34294 ENSG00000204532 zinc finger and SCAN domain containing 5C ZSCAN5C ZNF495C, ZSCAN5CP Yes No Ensembl:ENSG00000204532, GeneCard:ZSCAN5C, HGNC:HGNC:34294, ModBase:A6NGD5, NCBI Gene:649137, RefSeq DNA:NG_012782, RefSeq DNA:NT_011109, RefSeq Protein:XP_001131980, RefSeq Protein:XP_001726465, RefSeq Protein:XP_943308, RefSeq RNA:XM_001131980, RefSeq RNA:XM_001726413, RefSeq RNA:XM_938215, UniProtKB:A6NGD5 No chr19 56717154 56720823 56205787 56209458 +PA37564 7746 HGNC:12984 ENSG00000137185 zinc finger and SCAN domain containing 9 ZSCAN9 PRD51, ZNF193 Yes No Ensembl:ENSG00000137185, GenAtlas:ZNF193, GeneCard:ZNF193, HGNC:HGNC:12984, HumanCyc Gene:HS06285, ModBase:O15535, NCBI Gene:7746, OMIM:602246, RefSeq DNA:NT_007592, RefSeq Protein:NP_001186408, RefSeq Protein:NP_001186409, RefSeq Protein:NP_006290, RefSeq RNA:NM_001199479, RefSeq RNA:NM_001199480, RefSeq RNA:NM_006299, UCSC Genome Browser:NM_006299, UniProtKB:O15535 No chr6 28193029 28201265 28224702 28233487 +PA25704 90204 HGNC:16155 ENSG00000168612 zinc finger SWIM-type containing 1 ZSWIM1 zinc finger, SWIM-type containing 1 C20orf162, dJ337O18.5 Yes No Ensembl:ENSG00000168612, GenAtlas:ZSWIM1, GeneCard:ZSWIM1, HGNC:HGNC:16155, HumanCyc Gene:HS15692, NCBI Gene:90204, RefSeq DNA:NT_011362, RefSeq Protein:NP_542170, RefSeq RNA:NM_080603, UCSC Genome Browser:NM_080603, UniProtKB:Q9BR11 No chr20 44509581 44513905 45880920 45885266 +PA134900131 151112 HGNC:30990 ENSG00000163012 zinc finger SWIM-type containing 2 ZSWIM2 zinc finger, SWIM-type containing 2 MEX, MGC33890, ZZZ2 Yes No Ensembl:ENSG00000163012, GeneCard:ZSWIM2, HGNC:HGNC:30990, ModBase:Q8NEG5, NCBI Gene:151112, RefSeq DNA:NT_005403, RefSeq Protein:NP_872327, RefSeq RNA:NM_182521, UniProtKB:B3KXV6, UniProtKB:Q8NEG5 No chr2 187692207 187713897 186827480 186849170 +PA25706 140831 HGNC:16157 ENSG00000132801 zinc finger SWIM-type containing 3 ZSWIM3 """protein phosphatase 1, regulatory subunit 174"", ""zinc finger, SWIM-type containing 3""" C20orf164, PPP1R174, dJ337O18.7 Yes No Ensembl:ENSG00000132801, GenAtlas:ZSWIM3, GeneCard:ZSWIM3, HGNC:HGNC:16157, HumanCyc Gene:HS13445, ModBase:Q96MP5, NCBI Gene:140831, RefSeq DNA:NT_011362, RefSeq Protein:NP_542790, RefSeq RNA:NM_080752, RefSeq RNA:NR_037628, UCSC Genome Browser:NM_080752, UniProtKB:Q96MP5 No chr20 44486220 44507770 45857581 45879131 +PA134975055 65249 HGNC:25704 ENSG00000132003 zinc finger SWIM-type containing 4 ZSWIM4 zinc finger, SWIM-type containing 4 FLJ12221 Yes No Comparative Toxicogenomics Database:65249, Ensembl:ENSG00000132003, GeneCard:ZSWIM4, HGNC:HGNC:25704, ModBase:Q9H7M6, NCBI Gene:65249, RefSeq DNA:NT_011295, RefSeq Protein:NP_075560, RefSeq RNA:NM_023072, UniProtKB:Q9H7M6, UniProtKB:Q9HA55 No chr19 13906258 13943068 13795424 13832254 +PA134981647 57643 HGNC:29299 ENSG00000162415 zinc finger SWIM-type containing 5 ZSWIM5 zinc finger, SWIM-type containing 5 KIAA1511 Yes No Ensembl:ENSG00000162415, GeneCard:ZSWIM5, HGNC:HGNC:29299, ModBase:Q9P217, NCBI Gene:57643, RefSeq DNA:NT_032977, RefSeq Protein:NP_065934, RefSeq RNA:NM_020883, UniProtKB:Q9P217 No chr1 45482071 45672250 45016399 45206586 +PA134910181 57688 HGNC:29316 ENSG00000130449 zinc finger SWIM-type containing 6 ZSWIM6 zinc finger, SWIM-type containing 6 KIAA1577 Yes No Comparative Toxicogenomics Database:57688, Ensembl:ENSG00000130449, GeneCard:ZSWIM6, HGNC:HGNC:29316, NCBI Gene:57688, RefSeq DNA:NT_006713, RefSeq Protein:NP_065979, RefSeq RNA:NM_020928, UniProtKB:Q9HCJ5 No chr5 60628100 60841999 61332273 61546172 +PA162411055 125150 HGNC:26993 ENSG00000214941 zinc finger SWIM-type containing 7 ZSWIM7 """SWIM domain containing Srs2 interacting protein 1"", ""zinc finger, SWIM-type containing 7""" SWS1 Yes No Ensembl:ENSG00000214941, GeneCard:ZSWIM7, HGNC:HGNC:26993, NCBI Gene:125150, RefSeq DNA:NT_010718, RefSeq Protein:NP_001036162, RefSeq Protein:NP_001036163, RefSeq RNA:NM_001042697, RefSeq RNA:NM_001042698, UniProtKB:Q19AV6 No chr17 15879874 15903006 15976560 15999692 +PA134885317 23053 HGNC:23528 ENSG00000214655 zinc finger SWIM-type containing 8 ZSWIM8 """Dorado"", ""Pelado"", ""zinc finger, SWIM-type containing 8""" 4832404P21Rik, KIAA0913 Yes No Ensembl:ENSG00000214655, GeneCard:KIAA0913, HGNC:HGNC:23528, NCBI Gene:23053, RefSeq DNA:NT_030059, RefSeq Protein:NP_001229416, RefSeq Protein:NP_001229417, RefSeq Protein:NP_055852, RefSeq RNA:NM_001242487, RefSeq RNA:NM_001242488, RefSeq RNA:NM_015037, UniProtKB:A7E2V4 No chr10 75545334 75561556 73785577 73801798 +PA162378847 374920 HGNC:34495 ENSG00000185453 zinc finger SWIM-type containing 9 ZSWIM9 chromosome 19 open reading frame 68 C19orf68, LOC374920 Yes No Ensembl:ENSG00000185453, GeneCard:C19orf68, HGNC:HGNC:34495, NCBI Gene:374920, RefSeq DNA:NT_011109, RefSeq Protein:XP_001713822, RefSeq Protein:XP_001713823, RefSeq Protein:XP_001713824, RefSeq RNA:XM_001713770, RefSeq RNA:XM_001713771, RefSeq RNA:XM_001713772 No chr19 48673952 48700879 48170662 48197621 +PA162411072 221302 HGNC:21224 ENSG00000153975 zinc finger containing ubiquitin peptidase 1 ZUP1 zinc finger with UFM1-specific peptidase domain C6orf113, ZUFSP, dJ412I7.3 Yes No Ensembl:ENSG00000153975, GeneCard:ZUFSP, HGNC:HGNC:21224, HumanCyc Gene:HS14497, NCBI Gene:221302, RefSeq DNA:NT_025741, RefSeq Protein:NP_659499, RefSeq RNA:NM_145062, UniProtKB:Q96AP4 No chr6 116956781 116989973 116635618 116668810 +PA37759 9183 HGNC:13194 ENSG00000086827 zw10 kinetochore protein ZW10 KNTC1AP Yes No Comparative Toxicogenomics Database:9183, Ensembl:ENSG00000086827, GenAtlas:ZW10, GeneCard:ZW10, HGNC:HGNC:13194, HumanCyc Gene:HS01544, ModBase:O43264, NCBI Gene:9183, OMIM:603954, RefSeq DNA:NT_033899, RefSeq Protein:NP_004715, RefSeq RNA:NM_004724, UCSC Genome Browser:NM_004724, UniProtKB:O43264 No chr11 113603905 113644485 113733183 113773763 +PA142670465 55055 HGNC:25468 ENSG00000174442 zwilch kinetochore protein ZWILCH FLJ10036, KNTC1AP Yes No Comparative Toxicogenomics Database:55055, Ensembl:ENSG00000174442, GeneCard:ZWILCH, HGNC:HGNC:25468, ModBase:Q9H900, NCBI Gene:55055, OMIM:609984, RefSeq DNA:NT_010194, RefSeq Protein:NP_060445, RefSeq RNA:NM_017975, RefSeq RNA:NR_003105, UniProtKB:Q9H900 No chr15 66797431 66841823 66505083 66549485 +PA37761 11130 HGNC:13195 ENSG00000122952 ZW10 interacting kinetochore protein ZWINT SNAP25 interacting protein of 30 kDa KNTC2AP, SIP30, Zwint1 Yes No Comparative Toxicogenomics Database:11130, Ensembl:ENSG00000122952, GenAtlas:ZWINT, GeneCard:ZWINT, HGNC:HGNC:13195, HumanCyc Gene:HS04615, ModBase:O95229, NCBI Gene:11130, OMIM:609177, RefSeq DNA:NT_030059, RefSeq Protein:NP_001005413, RefSeq Protein:NP_008988, RefSeq Protein:NP_127490, RefSeq RNA:NM_001005413, RefSeq RNA:NM_007057, RefSeq RNA:NM_032997, UCSC Genome Browser:NM_007057, UniProtKB:A6NNV6, UniProtKB:O95229 No chr10 58117016 58121063 56357257 56361302 +PA37763 7789 HGNC:13198 ENSG00000198205 zinc finger X-linked duplicated A ZXDA """zinc finger protein 896"", ""zinc finger, X-linked, duplicated A""" ZNF896 Yes No Ensembl:ENSG00000198205, GenAtlas:ZXDA, GeneCard:ZXDA, HGNC:HGNC:13198, ModBase:P98168, NCBI Gene:7789, OMIM:300235, RefSeq DNA:NG_015974, RefSeq DNA:NT_011630, RefSeq Protein:NP_009087, RefSeq RNA:NM_007156, UCSC Genome Browser:NM_007156, UniProtKB:P98168 No chrX 57931864 57937067 57905430 57910633 +PA37764 158586 HGNC:13199 ENSG00000198455 zinc finger X-linked duplicated B ZXDB zinc finger, X-linked, duplicated B ZNF905 Yes No Comparative Toxicogenomics Database:158586, Ensembl:ENSG00000198455, GenAtlas:ZXDB, GeneCard:ZXDB, HGNC:HGNC:13199, ModBase:P98169, NCBI Gene:158586, OMIM:300236, RefSeq DNA:NT_011630, RefSeq Protein:NP_009088, RefSeq RNA:NM_007157, UniProtKB:P98169 No chrX 57618269 57623910 57591836 57597477 +PA142670466 79364 HGNC:28160 ENSG00000070476 ZXD family zinc finger C ZXDC FLJ13861, MGC11349 Yes No Ensembl:ENSG00000070476, GeneCard:ZXDC, HGNC:HGNC:28160, HumanCyc Gene:HS12210, ModBase:Q2QGD7, NCBI Gene:79364, RefSeq DNA:NT_005612, RefSeq Protein:NP_001035743, RefSeq Protein:NP_079388, RefSeq RNA:NM_001040653, RefSeq RNA:NM_025112, UniProtKB:Q2QGD7 No chr3 126156444 126194773 126437348 126475938 +PA142670467 440590 HGNC:32058 ENSG00000203995 zyg-11 family member A, cell cycle regulator ZYG11A ZYG11 Yes No Ensembl:ENSG00000203995, GeneCard:ZYG11A, HGNC:HGNC:32058, NCBI Gene:440590, RefSeq DNA:NT_032977, RefSeq Protein:NP_001004339, RefSeq Protein:XP_001133615, RefSeq Protein:XP_001718826, RefSeq Protein:XP_946752, RefSeq RNA:NM_001004339, RefSeq RNA:XM_001133615, RefSeq RNA:XM_001718774, RefSeq RNA:XM_941659, UniProtKB:Q6WRX3 No chr1 53308183 53360247 52842511 52894575 +PA142670468 79699 HGNC:25820 ENSG00000162378 zyg-11 family member B, cell cycle regulator ZYG11B FLJ13456, ZYG11 Yes No Ensembl:ENSG00000162378, GeneCard:ZYG11B, HGNC:HGNC:25820, ModBase:Q9C0D3, NCBI Gene:79699, RefSeq DNA:NT_032977, RefSeq Protein:NP_078922, RefSeq RNA:NM_024646, UniProtKB:B4DK95, UniProtKB:Q9C0D3 No chr1 53192126 53293014 52726454 52827342 +PA37765 7791 HGNC:13200 ENSG00000159840 zyxin ZYX Yes No Comparative Toxicogenomics Database:7791, Ensembl:ENSG00000159840, GenAtlas:ZYX, GeneCard:ZYX, HGNC:HGNC:13200, HumanCyc Gene:HS08424, ModBase:Q15942, NCBI Gene:7791, OMIM:602002, RefSeq DNA:NT_007914, RefSeq DNA:NT_079596, RefSeq Protein:NP_001010972, RefSeq Protein:NP_003452, RefSeq RNA:NM_001010972, RefSeq RNA:NM_003461, UCSC Genome Browser:NM_003461, UniProtKB:Q15942, UniProtKB:Q96AF9 No chr7 143078338 143088204 143381174 143391111 +PA134938508 23140 HGNC:29027 ENSG00000074755 zinc finger ZZ-type and EF-hand domain containing 1 ZZEF1 zinc finger, ZZ-type with EF-hand domain 1 FLJ10821, KIAA0399, ZZZ4 Yes No Ensembl:ENSG00000074755, GeneCard:ZZEF1, HGNC:HGNC:29027, NCBI Gene:23140, RefSeq DNA:NT_010718, RefSeq Protein:NP_055928, RefSeq RNA:NM_015113, UniProtKB:O43149 No chr17 3907739 4046314 4004445 4143020 +PA134873184 26009 HGNC:24523 ENSG00000036549 zinc finger ZZ-type containing 3 ZZZ3 """ATAC component 1 homolog (Drosophila)"", ""zinc finger, ZZ-type containing 3""" ATAC1, DKFZP564I052 Yes No Comparative Toxicogenomics Database:26009, Ensembl:ENSG00000036549, GeneCard:ZZZ3, HGNC:HGNC:24523, ModBase:Q8IYH5, NCBI Gene:26009, RefSeq DNA:NT_032977, RefSeq Protein:NP_056349, RefSeq RNA:NM_015534, UniProtKB:Q8IYH5 No chr1 78028160 78149119 77561526 77683440 diff --git a/persistent_data/lookup_data/phenotypes/CREATED_2025-08-05.txt b/persistent_data/lookup_data/phenotypes/CREATED_2025-08-05.txt new file mode 100644 index 0000000..32a2d61 --- /dev/null +++ b/persistent_data/lookup_data/phenotypes/CREATED_2025-08-05.txt @@ -0,0 +1 @@ +Created on 08/05/2025 at 00:51:22 PDT. diff --git a/persistent_data/lookup_data/phenotypes/LICENSE.txt b/persistent_data/lookup_data/phenotypes/LICENSE.txt new file mode 100644 index 0000000..e1c1987 --- /dev/null +++ b/persistent_data/lookup_data/phenotypes/LICENSE.txt @@ -0,0 +1,8 @@ +This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/ or send a letter to Creative Commons, PO Box 1866, Mountain View, CA 94042, USA. + +Some requirements of this license include: + +1. __Attribution__: You must give appropriate credit to ClinPGx (https://www.clinpgx.org/page/citingClinpgx), provide a link to this license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests ClinPGx endorses you or approves of your use. +2. __ShareAlike__: If you alter, amend, reuse or otherwise change ClinPGx data you agree that if you distribute such product, all recipients shall first agree to be subject to this license. Proof of such agreement shall be made available to ClinPGx. Under no circumstances can ClinPGx data be sold for other's private or commercial use. + +Read the ClinPGx data usage policy (https://www.clinpgx.org/page/dataUsagePolicy) for more details. diff --git a/persistent_data/lookup_data/phenotypes/README.pdf b/persistent_data/lookup_data/phenotypes/README.pdf new file mode 100644 index 0000000..3aa6b2d Binary files /dev/null and b/persistent_data/lookup_data/phenotypes/README.pdf differ diff --git a/persistent_data/lookup_data/phenotypes/phenotypes.tsv b/persistent_data/lookup_data/phenotypes/phenotypes.tsv new file mode 100644 index 0000000..3143b87 --- /dev/null +++ b/persistent_data/lookup_data/phenotypes/phenotypes.tsv @@ -0,0 +1,1615 @@ +PharmGKB Accession Id Name Alternate Names Cross-references External Vocabulary +PA446220 Abdominal Pain """AP - Abdominal pain"", ""Abdominal Pains"", ""Abdominal pain"", ""Pain, Abdominal"", ""Pains, Abdominal"", ""[D]Abdominal pain""" MeSH:D015746(Abdominal Pain), SnoMedCT:207205003([D]Abdominal pain), SnoMedCT:21522001(Abdominal pain), UMLS:C0000737(C0000737), MedDRA:10000039(Abd. pain), NDFRT:N0000003309(Abdominal Pain [Disease/Finding]), HP:HP:0002027(Abdominal pain) +PA443224 Abnormalities, Drug-Induced """Abnormalities, Drug Induced"", ""Abnormality, Drug-Induced"", ""Drug Induced Abnormalities"", ""Drug-Induced Abnormalities"", ""Drug-Induced Abnormality""" """MeSH:D000014(Abnormalities, Drug-Induced)"", ""UMLS:C0000771(Abnormalities, Drug-Induced [Disease/Finding])"", ""NDFRT:N0000000265(Abnormalities, Drug-Induced [Disease/Finding])"", ""MONDO:MONDO:0016677(toxic or drug-related embryofetopathy)""" +PA444117 Abnormality of the eye """Abnormalities, Eye"", ""Abnormality, Eye"", ""Congenital abnormality of eye"", ""Congenital anolmaly of eye"", ""Congenital anomaly of eye"", ""Congenital anomaly of eye, NOS"", ""Congenital anomaly of the globe"", ""Congenital deformity of eye"", ""Congenital deformity of eye, NOS"", ""Congenital eye anomalies"", ""Congenital eye anomalies NOS"", ""Eye Abnormality""" MeSH:D005124(Eye Abnormalities), SnoMedCT:19416009(Congenital anomaly of eye), SnoMedCT:204222005(Congenital eye anomalies NOS), UMLS:C0015393(C0015393), MedDRA:10010343(Congenital anomalies of eye), NDFRT:N0000001179(Eye Abnormalities [Disease/Finding]), HP:HP:0000478(Abnormality of the eye) +PA443227 Abortion, Spontaneous """Abortion, Tubal"", ""Abortions, Spontaneous"", ""Abortions, Tubal"", ""Miscarriage"", ""Miscarriage, NOS"", ""Miscarriages"", ""Spontaneous Abortion"", ""Spontaneous Abortions"", ""Spontaneous abortion NOS"", ""Spontaneous abortion unspecified"", ""Tubal Abortion"", ""Tubal Abortions"", ""Unspecified spontaneous abortion NOS""" """MeSH:D000022(Abortion, Spontaneous)"", ""SnoMedCT:17369002(Spontaneous abortion)"", ""SnoMedCT:198631006(Spontaneous abortion unspecified)"", ""SnoMedCT:198643007(Unspecified spontaneous abortion NOS)"", ""SnoMedCT:198689000(Spontaneous abortion NOS)"", ""UMLS:C0000786(C0000786)"", ""MedDRA:10000234(Abortion spontaneous)"", ""NDFRT:N0000000268(Abortion, Spontaneous [Disease/Finding])"", ""cpgxTags:pgkbTags:1452102240(Maternal Health)"", ""HP:HP:0005268(Miscarriage)""" +PA443235 Abscess Abscess NOS, Abscess morphology, Abscesses, Acute abscess MeSH:D000038(Abscess), SnoMedCT:128477000(Abscess), SnoMedCT:200694004(Abscess NOS), SnoMedCT:44132006(Abscess morphology), UMLS:C0000833(C0000833), MedDRA:10000269(Abscess), NDFRT:N0000000276(Abscess [Disease/Finding]), MONDO:MONDO:0005227(abscess), HP:HP:0025615(Abscess) +PA152408019 ACAD9 Deficiency acyl-CoA dehydrogenase 9 deficiency MedDRA:10081518(ACAD9 deficiency.), MONDO:MONDO:0012624(acyl-CoA dehydrogenase 9 deficiency) +PA165108199 Acanthamoeba keratitis MONDO:MONDO:0005629(Acanthamoeba keratitis) +PA166048806 Acid-Base Imbalance NDFRT:N0000000282(Acid-Base Imbalance), HP:HP:0004360(Abnormality of acid-base homeostasis) +PA443242 Acidosis """Acidaemia NOS"", ""Acidoses"", ""Acidosis, NOS""" MeSH:D000138(Acidosis), SnoMedCT:190887001(Acidosis NOS), SnoMedCT:51387008(Acidosis), UMLS:C0001122(C0001122), MedDRA:10000486(Acidosis), NDFRT:N0000000283(Acidosis [Disease/Finding]), HP:HP:0001941(Acidosis) +PA443244 Acidosis, Renal Tubular """Acidoses, Renal Tubular"", ""Acidosis, Renal Tubular, Type I"", ""Acidosis, Renal Tubular, Type II"", ""Classic Distal Renal Tubular Acidosis"", ""Distal Renal Tubular Acidosis"", ""Proximal Renal Tubular Acidosis"", ""RTA"", ""RTA - Renal tubular acidosis"", ""RTA, NOS"", ""Renal Tubular Acidoses"", ""Renal Tubular Acidosis"", ""Renal tubular acidosis, NOS"", ""Renotubular acidaemia"", ""Renotubular acidemia"", ""Tubular Acidoses, Renal"", ""Tubular Acidosis, Renal"", ""Type I Renal Tubular Acidosis"", ""Type II Renal Tubular Acidosis""" """MeSH:D000141(Acidosis, Renal Tubular)"", ""SnoMedCT:1776003(Renal tubular acidosis)"", ""UMLS:C0001126(C0001126)"", ""MedDRA:10000494(Acidosis renal tubular)"", ""NDFRT:N0000000285(Acidosis, Renal Tubular [Disease/Finding])"", ""MONDO:MONDO:0001909(renal tubular acidosis)"", ""HP:HP:0001947(Renal tubular acidosis)""" +PA166048819 Acidosis, Respiratory """NDFRT:N0000000286(Acidosis, Respiratory)"", ""HP:HP:0005972(Respiratory acidosis)""" +PA166048775 Acinetobacter Infections NDFRT:N0000000287(Acinetobacter Infections), MONDO:MONDO:0006635(Acinetobacter infectious disease) +PA443247 Acne Vulgaris Acne, Acne vulgaris MeSH:D000152(Acne Vulgaris), SnoMedCT:88616000(Acne vulgaris), UMLS:C0001144(C0001144), MedDRA:10000519(Acne vulgaris), NDFRT:N0000000288(Acne Vulgaris [Disease/Finding]), MONDO:MONDO:0011438(acne) +PA443250 Acquired Immunodeficiency Syndrome """AIDS"", ""AIDS, NOS"", ""AIDS-related complex"", ""Acquired Immune Deficiency Syndrome"", ""Acquired Immuno Deficiency Syndrome"", ""Acquired Immuno-Deficiency Syndrome"", ""Acquired Immuno-Deficiency Syndromes"", ""Acquired Immunodeficiency Syndromes"", ""Acquired human immunodeficiency virus infection syndrome NOS"", ""Acquired immunodeficiency syndrome"", ""Immuno-Deficiency Syndrome, Acquired"", ""Immuno-Deficiency Syndromes, Acquired"", ""Immunodeficiency Syndrome, Acquired"", ""Immunodeficiency Syndromes, Acquired"", ""Immunologic Deficiency Syndrome, Acquired"", ""Syndrome, Acquired Immuno-Deficiency"", ""Syndrome, Acquired Immunodeficiency"", ""Syndromes, Acquired Immuno-Deficiency"", ""Syndromes, Acquired Immunodeficiency""" MeSH:D000163(Acquired Immunodeficiency Syndrome), MeSH:D000386(AIDS-Related Complex), SnoMedCT:186715004(Acquired human immunodeficiency virus infection syndrome NOS), SnoMedCT:62246005(Acquired immunodeficiency syndrome), SnoMedCT:62479008(Acquired immune deficiency syndrome), UMLS:C0001175(C0001175), UMLS:C0001857(C0001857), MedDRA:10000562(Acquired immune deficiency syndr), NDFRT:N0000000291(Acquired Immunodeficiency Syndrome [Disease/Finding]), MONDO:MONDO:0005639(AIDS related complex), MONDO:MONDO:0012268(AIDS) +PA447300 Acquired Long QT Syndrome (aLQTS) Long QT syndrome caused by drug, drug-induced long QT SnoMedCT:715971003(Long QT syndrome caused by drug) +PA152068054 Acquired partial lipodystrophy """Hollander-Simons syndrome"", ""Lipodystrophy, Acquired Partial"", ""Progressive partial lipodystrophy""" SnoMedCT:75659004(Acquired partial lipodystrophy), UMLS:C0220989(C0220989), MedDRA:10053857(Partial lipodystrophy), MONDO:MONDO:0012104(acquired partial lipodystrophy) +PA152249159 Acrocephalopolysyndactyly type II Carpenter Syndrome SnoMedCT:403767009(Acrocephalopolysyndactyly type II), UMLS:C1275078(C1275078), MONDO:MONDO:0019012(Carpenter syndrome) +PA443254 Acromegaly """Hypersecretion Syndrome, Somatotropin (Acromegaly)"", ""Hypersecretion Syndromes, Somatotropin (Acromegaly)"", ""Inappropriate GH Secretion Syndrome (Acromegaly)"", ""Inappropriate Growth Hormone Secretion Syndrome (Acromegaly)"", ""Somatotropin Hypersecretion Syndrome (Acromegaly)"", ""Somatotropin Hypersecretion Syndromes (Acromegaly)"", ""Syndrome, Somatotropin Hypersecretion (Acromegaly)"", ""Syndromes, Somatotropin Hypersecretion (Acromegaly)""" MONDO:MONDO:0019933(acromegaly) +PA166048822 Actinomycetales Infections NDFRT:N0000000299(Actinomycetales Infections), MONDO:MONDO:0006921(Actinomycetales infectious disease) +PA165108511 Actinomycosis unspecified site NOS MeSH:D000196(Actinomycosis), SnoMedCT:186405006(Actinomycosis unspecified site NOS), UMLS:C0001261(C0001261), MedDRA:10000620(Actinomycosis), NDFRT:N0000000300(Actinomycosis [Disease/Finding]), MONDO:MONDO:0005631(actinomycosis) +PA165109055 Acute abdomen HP:HP:0033400(Acute abdomen) +PA166114455 Acute cellular rejection SnoMedCT:40442005(Acute cellular graft rejection), MedDRA:10049237(Acute cellular rejection) +PA165108401 Acute coronary syndrome ACS - Acute coronary syndrome MeSH:D054058(Acute Coronary Syndrome), SnoMedCT:394659003(Acute coronary syndrome), UMLS:C0948089(C0948089), MedDRA:10051592(Acute coronary syndrome), NDFRT:N0000181188(Acute Coronary Syndrome [Disease/Finding]), MONDO:MONDO:0005053(ischemic disease), MONDO:MONDO:0005542(acute coronary syndrome), HP:HP:0033678(Acute coronary syndrome) +PA444683 Acute Kidney Failure """ARF - Acute renal failure"", ""Acute Kidney Failure"", ""Acute Kidney Failures"", ""Acute Kidney Insufficiencies"", ""Acute Kidney Insufficiency"", ""Acute Renal Failure"", ""Acute Renal Failures"", ""Acute Renal Insufficiencies"", ""Acute Renal Insufficiency"", ""Acute renal failure syndrome, NOS"", ""Failure, Acute Kidney"", ""Failure, Acute Renal"", ""Failures, Acute Kidney"", ""Failures, Acute Renal"", ""Insufficiencies, Acute Kidney"", ""Insufficiencies, Acute Renal"", ""Insufficiency, Acute Kidney"", ""Insufficiency, Acute Renal"", ""Kidney Failures, Acute"", ""Kidney Insufficiencies, Acute"", ""Kidney Insufficiency, Acute"", ""Renal Failure, Acute"", ""Renal Failures, Acute"", ""Renal Insufficiencies, Acute"", ""Renal Insufficiency, Acute""" """MeSH:D058186(Acute Kidney Injury)"", ""SnoMedCT:14669001(Acute renal failure syndrome)"", ""SnoMedCT:197653006(Acute renal failure NOS)"", ""UMLS:C0022660(C0022660)"", ""MedDRA:10000821(Acute kidney failure)"", ""NDFRT:N0000001749(Kidney Failure, Acute [Disease/Finding])"", ""MONDO:MONDO:0002492(acute kidney failure)""" +PA446155 Acute lymphoblastic leukemia """ALL, Childhood"", ""Acute Lymphoblastic Leukemia"", ""Acute Lymphoblastic Leukemias"", ""Acute Lymphocytic Leukemia"", ""Acute Lymphocytic Leukemias"", ""Acute lymphatic leukemia, L2 type"", ""Acute lymphoblastic leukaemia"", ""Acute lymphoblastic leukaemia, L2 type"", ""Acute lymphoblastic leukaemia, precursor-cell type"", ""Acute lymphoblastic leukaemia-lymphoma"", ""Acute lymphoblastic leukemia"", ""Acute lymphoblastic leukemia, precursor-cell type"", ""Acute lymphoblastic leukemia-lymphoma"", ""Acute lymphocytic leukaemia"", ""Acute lymphocytic leukaemia, L2 type"", ""Acute lymphocytic leukemia"", ""Acute lymphocytic leukemia, L2 type"", ""Acute lymphoid leukaemia, L2 type"", ""Acute lymphoid leukemia, L2 type"", ""Adult Acute Lymphocytic Leukemia"", ""Childhood ALL"", ""FAB L2"", ""L1 Lymphocytic Leukemia"", ""L1 Lymphocytic Leukemias"", ""L2 Lymphocytic Leukemia"", ""L2 Lymphocytic Leukemias"", ""Leukemia, Acute Lymphoblastic"", ""Leukemia, Acute Lymphocytic"", ""Leukemia, L1 Lymphocytic"", ""Leukemia, L2 Lymphocytic"", ""Leukemia, Lymphoblastic, Acute"", ""Leukemia, Lymphoblastic, Acute, L1"", ""Leukemia, Lymphoblastic, Acute, L2"", ""Leukemia, Lymphoblastic, Acute, Philadelphia-Positive"", ""Leukemia, Lymphocytic, Acute"", ""Leukemia, Lymphocytic, Acute, Adult"", ""Leukemia, Lymphocytic, Acute, L1"", ""Leukemia, Lymphocytic, Acute, L2"", ""Leukemias, Acute Lymphoblastic"", ""Leukemias, Acute Lymphocytic"", ""Leukemias, L1 Lymphocytic"", ""Leukemias, L2 Lymphocytic"", ""Lymphoblastic Leukemia, Acute"", ""Lymphoblastic Leukemia, Acute L1"", ""Lymphoblastic Leukemia, Acute, Adult"", ""Lymphoblastic Leukemia, Acute, Childhood"", ""Lymphoblastic Leukemia, Acute, L1"", ""Lymphoblastic Leukemia, Acute, L2"", ""Lymphoblastic Leukemias, Acute"", ""Lymphoblastic leukaemia"", ""Lymphoblastic leukaemia, L2 type"", ""Lymphoblastic leukemia"", ""Lymphocytic Leukemia, Acute"", ""Lymphocytic Leukemia, L1"", ""Lymphocytic Leukemia, L2"", ""Lymphocytic Leukemias, Acute"", ""Lymphocytic Leukemias, L1"", ""Lymphocytic Leukemias, L2"", ""Precursor Cell Lymphoblastic Leukemia-Lymphoma"", ""Precursor cell lymphoblastic leukaemia, not phenotyped"", ""Precursor cell lymphoblastic leukemia, not phenotyped"", ""acute lymphoblastic leukemia (organ transplant recipients)"", ""childhood acute lymphoblastic leukaemia""" MeSH:D054198(Precursor Cell Lymphoblastic Leukemia-Lymphoma), SnoMedCT:128822004(Precursor cell lymphoblastic leukemia), UMLS:C1961102(C1961102), NDFRT:N0000181267(Precursor Cell Lymphoblastic Leukemia-Lymphoma [Disease/Finding]), MONDO:MONDO:0004967(acute lymphoblastic leukemia) +PA164924608 Acute Necrotizing Encephalopathy familial acute necrotizing encephalopathy MONDO:MONDO:0011953(familial acute necrotizing encephalopathy), HP:HP:0006965(Acute necrotizing encephalopathy) +PA165108252 Acute necrotizing pancreatitis Necrotizing pancreatitis MONDO:MONDO:0850420(acute necrotizing pancreatitis) +PA443265 Adenocarcinoma """Adenocarcinoma, Basal Cell"", ""Adenocarcinoma, Granular Cell"", ""Adenocarcinoma, NOS"", ""Adenocarcinoma, Oxyphilic"", ""Adenocarcinoma, Tubular"", ""Adenocarcinoma, no subtype"", ""Adenocarcinomas"", ""Adenocarcinomas, Basal Cell"", ""Adenocarcinomas, Granular Cell"", ""Adenocarcinomas, Oxyphilic"", ""Adenocarcinomas, Tubular"", ""Adenoma, Malignant"", ""Adenomas, Malignant"", ""Basal Cell Adenocarcinoma"", ""Basal Cell Adenocarcinomas"", ""Carcinoma, Cribriform"", ""Carcinoma, Granular Cell"", ""Carcinoma, Tubular"", ""Carcinomas, Cribriform"", ""Carcinomas, Granular Cell"", ""Carcinomas, Tubular"", ""Cribriform Carcinoma"", ""Cribriform Carcinomas"", ""Granular Cell Adenocarcinoma"", ""Granular Cell Adenocarcinomas"", ""Granular Cell Carcinoma"", ""Granular Cell Carcinomas"", ""Malignant Adenoma"", ""Malignant Adenomas"", ""Oxyphilic Adenocarcinoma"", ""Oxyphilic Adenocarcinomas"", ""Tubular Adenocarcinoma"", ""Tubular Adenocarcinomas"", ""Tubular Carcinoma"", ""Tubular Carcinomas""" """MeSH:D000230(Adenocarcinoma)"", ""SnoMedCT:35917007(Adenocarcinoma, no subtype)"", ""UMLS:C0001418(C0001418)"", ""MedDRA:10001141(Adenocarcinoma)"", ""NDFRT:N0000000306(Adenocarcinoma [Disease/Finding])"", ""MONDO:MONDO:0004970(adenocarcinoma)""" +PA443615 Adenocarcinoma, Bronchiolo-Alveolar """Adenocarcinoma, Alveolar"", ""Adenocarcinoma, Bronchiolo Alveolar"", ""Adenocarcinomas, Alveolar"", ""Adenocarcinomas, Bronchiolo-Alveolar"", ""Alveolar Adenocarcinoma"", ""Alveolar Adenocarcinomas"", ""Alveolar Carcinoma"", ""Alveolar Carcinomas"", ""Alveolar adenocarcinoma"", ""Alveolar carcinoma"", ""Alveolar cell carcinoma"", ""Bronchiolar Carcinoma"", ""Bronchiolar Carcinomas"", ""Bronchiolar adenocarcinoma"", ""Bronchiolar carcinoma"", ""Bronchiolo-Alveolar Adenocarcinoma"", ""Bronchiolo-Alveolar Adenocarcinomas"", ""Bronchiolo-Alveolar Carcinoma"", ""Bronchiolo-Alveolar Carcinomas"", ""Bronchiolo-alveolar adenocarcinoma"", ""Bronchiolo-alveolar carcinoma"", ""Bronchioloalveolar Carcinoma"", ""Bronchioloalveolar Carcinomas"", ""Bronchioloalveolar carcinoma"", ""Carcinoma, Alveolar"", ""Carcinoma, Bronchiolar"", ""Carcinoma, Bronchiolo Alveolar"", ""Carcinoma, Bronchiolo-Alveolar"", ""Carcinoma, Bronchioloalveolar"", ""Carcinomas, Alveolar"", ""Carcinomas, Bronchiolar"", ""Carcinomas, Bronchiolo-Alveolar"", ""Carcinomas, Bronchioloalveolar"", ""[M]Bronchiolo-alveolar adenocarcinoma""" """MeSH:D002282(Adenocarcinoma, Bronchiolo-Alveolar)"", ""SnoMedCT:112677002(Bronchiolo-alveolar adenocarcinoma)"", ""SnoMedCT:36310008(Alveolar adenocarcinoma)"", ""SnoMedCT:373627005(Bronchioloalveolar carcinoma)"", ""UMLS:C0007120(C0007120)"", ""MedDRA:10049876(Alveolar cell carcinoma)"", ""NDFRT:N0000000669(Adenocarcinoma, Bronchiolo-Alveolar [Disease/Finding])"", ""MONDO:MONDO:0004991(minimally invasive lung adenocarcinoma)""" +PA443269 Adenoma """Adenoma, Basal Cell"", ""Adenoma, Follicular"", ""Adenoma, Microcystic"", ""Adenoma, Monomorphic"", ""Adenoma, Papillary"", ""Adenoma, Trabecular"", ""Adenoma, no subtype"", ""Adenomas"", ""Adenomas, Basal Cell"", ""Adenomas, Follicular"", ""Adenomas, Microcystic"", ""Adenomas, Monomorphic"", ""Adenomas, Papillary"", ""Adenomas, Trabecular"", ""Basal Cell Adenoma"", ""Basal Cell Adenomas"", ""Follicular Adenoma"", ""Follicular Adenomas"", ""Microcystic Adenoma"", ""Microcystic Adenomas"", ""Monomorphic Adenoma"", ""Monomorphic Adenomas"", ""Papillary Adenoma"", ""Papillary Adenomas"", ""Trabecular Adenoma"", ""Trabecular Adenomas""" MeSH:D000236(Adenoma), SnoMedCT:32048006(Adenoma), UMLS:C0001430(C0001430), MedDRA:10001231(Adenoma), NDFRT:N0000000310(Adenoma [Disease/Finding]), MONDO:MONDO:0004972(adenoma) +PA446629 Adenoma, Liver Cell """Adenoma, Hepatocellular"", ""Adenomas, Hepatocellular"", ""Adenomas, Liver Cell"", ""Benign Hepatoma"", ""Benign Hepatomas"", ""Benign hepatoma"", ""Hepatocellular Adenoma"", ""Hepatocellular Adenomas"", ""Hepatocellular adenoma"", ""Hepatoma, Benign"", ""Hepatomas, Benign"", ""Liver Cell Adenoma"", ""Liver Cell Adenomas""" """MeSH:D018248(Adenoma, Liver Cell)"", ""SnoMedCT:78058005(Liver cell adenoma)"", ""UMLS:C0206669(C0206669)"", ""MedDRA:10019827(Hepatocellular adenoma)"", ""NDFRT:N0000003720(Adenoma, Liver Cell [Disease/Finding])"", ""MONDO:MONDO:0018902(hepatocellular adenoma)""" +PA445381 Adenomatous Polyposis Coli """APC - Adenomatous polyposis coli"", ""Adenomatosis, NOS"", ""Adenomatous Polyposis Coli, Familial"", ""Adenomatous Polyposis of the Colon"", ""Adenomatous polyposis"", ""Adenomatous polyposis coli"", ""FAP - Familial adenomatous polyposis"", ""FPC - Familial polyposis coli"", ""Familial Adenomatous Polyposis Coli"", ""Familial Polyposis Coli"", ""Familial Polyposis Syndrome"", ""Familial Polyposis Syndromes"", ""Familial adenomatous polyposis"", ""Familial multiple polyposis syndrome"", ""Familial polyposis coli"", ""Polyposis Coli, Adenomatous"", ""Polyposis Coli, Familial"", ""Polyposis Syndrome, Familial"", ""Polyposis Syndromes, Familial"", ""Polyposis coli"", ""Syndrome, Familial Polyposis"", ""Syndromes, Familial Polyposis"", ""[M]Familial polyposis coli""" MeSH:D011125(Adenomatous Polyposis Coli), SnoMedCT:70921007(Adenomatous polyposis coli), SnoMedCT:72900001(Familial multiple polyposis syndrome), UMLS:C0032580(C0032580), MedDRA:10056981(Adenomatous polyposis coli), NDFRT:N0000002457(Adenomatous Polyposis Coli [Disease/Finding]), MONDO:MONDO:0021055(classic familial adenomatous polyposis), HP:HP:0005227(Adenomatous colonic polyposis) +PA446579 Adenosquamous Carcinoma """Adenosquamous Carcinoma"", ""Adenosquamous Carcinomas"", ""Adenosquamous cell carcinoma"", ""Carcinomas, Adenosquamous"", ""Mixed adenocarcinoma and epidermoid carcinoma""" """MeSH:D018196(Carcinoma, Adenosquamous)"", ""SnoMedCT:403902008(Adenosquamous cell carcinoma)"", ""SnoMedCT:59367005(Adenosquamous carcinoma)"", ""UMLS:C0206623(C0206623)"", ""MedDRA:10068873(Adenosquamous cell carcinoma)"", ""NDFRT:N0000003670(Carcinoma, Adenosquamous [Disease/Finding])"", ""MONDO:MONDO:0006074(adenosquamous carcinoma)""" +PA443275 Adhesion """Adhesion"", ""Adhesion, NOS"", ""Adhesions""" MeSH:D000267(Tissue Adhesions), SnoMedCT:42685002(Adhesion), UMLS:C0001511(C0001511), MedDRA:10059837(Adhesion), NDFRT:N0000000316(Tissue Adhesions [Disease/Finding]) +PA166048907 Adolescent NDFRT:N0000010214(Adolescent) +PA165108409 Adrenal gland disorder NOS MeSH:D000307(Adrenal Gland Diseases), SnoMedCT:190532009(Adrenal gland disorder NOS), UMLS:C0001621(C0001621), MedDRA:10001347(Adrenal disorder), NDFRT:N0000000324(Adrenal Gland Diseases [Disease/Finding]), MONDO:MONDO:0005495(adrenal gland disorder) +PA443286 Adrenal Hyperplasia, Congenital """Adrenal Hyperplasias, Congenital"", ""Adrenogenital Syndrome"", ""Adrenogenital Syndromes"", ""CAH - Congenital adrenal hyperplasia"", ""Congenital Adrenal Hyperplasia"", ""Congenital Adrenal Hyperplasias"", ""Congenital adrenal cortical hyperplasia"", ""Congenital adrenal hyperplasia"", ""Hyperplasia, Congenital Adrenal"", ""Hyperplasias, Congenital Adrenal"", ""Syndrome, Adrenogenital"", ""Syndromes, Adrenogenital""" """MeSH:D000312(Adrenal Hyperplasia, Congenital)"", ""SnoMedCT:237751000(Congenital adrenal hyperplasia)"", ""UMLS:C0001627(C0001627)"", ""MedDRA:10010323(Congenital adrenal hyperplasia)"", ""NDFRT:N0000000328(Adrenal Hyperplasia, Congenital [Disease/Finding])"", ""MONDO:MONDO:0018479(congenital adrenal hyperplasia)"", ""HP:HP:0008258(Congenital adrenal hyperplasia)""" +PA166048741 Adrenal Insufficiency NDFRT:N0000000326(Adrenal Insufficiency), HP:HP:0000846(Adrenal insufficiency) +PA446644 Adrenocortical Carcinoma """Adrenal Cortical Carcinoma"", ""Adrenal Cortical Carcinomas"", ""Adrenal cortical adenocarcinoma"", ""Adrenal cortical carcinoma"", ""Adrenal cortical tumor, malignant"", ""Adrenal cortical tumour, malignant"", ""Adrenocortical Carcinoma"", ""Adrenocortical Carcinomas"", ""Carcinoma, Adrenal Cortical"", ""Carcinoma, Adrenocortical"", ""Carcinomas, Adrenal Cortical"", ""Carcinomas, Adrenocortical""" MeSH:D018268(Adrenocortical Carcinoma), SnoMedCT:2227007(Adrenal cortical carcinoma), UMLS:C0206686(C0206686), MedDRA:10055076(Adrenal adenocarcinoma), NDFRT:N0000003735(Adrenocortical Carcinoma [Disease/Finding]), HP:HP:0006744(Adrenocortical carcinoma) +PA443283 Adrenocortical Hyperfunction """Adrenal Gland Hyperfunction"", ""Adrenal Gland Hyperfunctions"", ""Cushing's syndrome"", ""Disorder of corticoadrenal overactivity"", ""Gland Hyperfunction, Adrenal"", ""Gland Hyperfunctions, Adrenal"", ""Hypercorticism"", ""Hypercorticisms"", ""Hypercortisolism"", ""Hyperfunction, Adrenal Gland"", ""Hyperfunctions, Adrenal Gland"", ""Itsenko disease"", ""Overproduction of cortisol"", ""Suprarenogenic syndrome""" MeSH:D000308(Adrenocortical Hyperfunction), SnoMedCT:275437005(Adrenocortical hyperfunction), SnoMedCT:47270006(Hypercortisolism), UMLS:C0001622(C0001622), MedDRA:10001332(Adrenal cortex hyperfunction), NDFRT:N0000000325(Adrenocortical Hyperfunction [Disease/Finding]), MONDO:MONDO:0006640(adrenal gland hyperfunction), MONDO:MONDO:0018912(Cushing syndrome) +PA443288 Adrenoleukodystrophy """ALD"", ""ALD (Adrenoleukodystrophy)"", ""ALDs (Adrenoleukodystrophy)"", ""Adrenoleukodystrophies"", ""Adrenoleukodystrophies, X-linked"", ""Adrenoleukodystrophy, X-linked"", ""Adrenomyeloneuropathies"", ""Adrenomyeloneuropathy"", ""Schilder Addison Complex"", ""Schilder-Addison Complex"", ""X linked Adrenoleukodystrophy"", ""X-linked Adrenoleukodystrophies"", ""X-linked Adrenoleukodystrophy""" MeSH:D000326(Adrenoleukodystrophy), SnoMedCT:65389002(Adrenoleukodystrophy), UMLS:C0162309(C0162309), MedDRA:10051260(Adrenoleukodystrophy), NDFRT:N0000000330(Adrenoleukodystrophy [Disease/Finding]), MONDO:MONDO:0018544(adrenoleukodystrophy) +PA446366 Adult-onset Still disease """Adult Onset Still Disease"", ""Adult Onset Still's Disease"", ""Adult onset Still's disease"", ""Adult-Onset Still Disease"", ""Adult-Onset Still's Disease"", ""Adult-Onset Stills Disease"", ""Still Disease, Adult Onset"", ""Still Disease, Adult-Onset"", ""Still's Disease, Adult Onset"", ""Stills Disease, Adult-Onset""" """MeSH:D016706(Still's Disease, Adult-Onset)"", ""SnoMedCT:239920006(Adult onset Still's disease)"", ""UMLS:C0085253(C0085253)"", ""MedDRA:10064056(Still's disease adult onset)"", ""NDFRT:N0000003457(Still's Disease, Adult-Onset [Disease/Finding])"", ""MONDO:MONDO:0019355(adult-onset Still disease)""" +PA166165020 adverse cardiovascular events +PA166151827 adverse events +PA443291 Afibrinogenemia """Afibrinogenaemia"", ""Afibrinogenemias"", ""Complement factor 3i deficiency"", ""Deficiencies, Fibrinogen"", ""Deficiency, Fibrinogen"", ""Factor I deficiency"", ""Fibrinogen Deficiencies"", ""Fibrinogen Deficiency"", ""Fibrinogen deficiency""" MeSH:D000347(Afibrinogenemia), SnoMedCT:234621005(Factor I deficiency), SnoMedCT:278504009(Afibrinogenaemia), SnoMedCT:359727008(Fibrinogen deficiency), UMLS:C0001733(C0001733), MedDRA:10052651(Afibrinogenaemia), NDFRT:N0000000334(Afibrinogenemia [Disease/Finding]), MONDO:MONDO:0008737(congenital afibrinogenemia), HP:HP:0034287(Afibrinogenemia) +PA443294 Agammaglobulinemia Agammaglobulinaemia, Agammaglobulinemias, Hypogammaglobulinemia, Hypogammaglobulinemias MeSH:D000361(Agammaglobulinemia), SnoMedCT:119249001(Agammaglobulinaemia), UMLS:C0001768(C0001768), MedDRA:10001470(Agammaglobulinaemia), NDFRT:N0000000337(Agammaglobulinemia [Disease/Finding]), MONDO:MONDO:0015977(agammaglobulinemia), HP:HP:0004432(Agammaglobulinemia) +PA166129558 Aggression MeSH:D000374(Aggression), MedDRA:10001488(Aggression), HP:HP:0000718(Aggressive behavior) +PA166257721 aging Ageing, Mortality/Aging SnoMedCT:248280005(Aging) +PA166123306 Agitation MedDRA:10001497(Agitation), HP:HP:0000713(Agitation) +PA447194 Agoraphobia Fear of open places, Phobia of going out MeSH:D000379(Agoraphobia), SnoMedCT:247830007(Fear of open spaces), SnoMedCT:70691001(Agoraphobia), UMLS:C0001818(C0001818), MedDRA:10001502(Agoraphobia), NDFRT:N0000000340(Agoraphobia [Disease/Finding]), MONDO:MONDO:0003709(agoraphobia), HP:HP:0000756(Agoraphobia) +PA443297 Agranulocytosis Agranulocytoses, Granulocytopenia, Granulocytopenias MeSH:D000380(Agranulocytosis), SnoMedCT:17182001(Agranulocytosis), SnoMedCT:191350006(Agranulocytosis NOS), SnoMedCT:417672002(Granulocytopenic disorder), UMLS:C0001824(C0001824), MedDRA:10001507(Agranulocytosis), NDFRT:N0000000341(Agranulocytosis [Disease/Finding]), MONDO:MONDO:0001609(agranulocytosis), HP:HP:0012234(Agranulocytosis) +PA443298 Agraphia """Acquired Agraphia"", ""Acquired Agraphias"", ""Acquired Dysgraphia"", ""Acquired Dysgraphias"", ""Agraphia, Acquired"", ""Agraphia, Constructional"", ""Agraphia, Developmental"", ""Agraphia, Pure"", ""Agraphias"", ""Agraphias, Acquired"", ""Agraphias, Constructional"", ""Agraphias, Developmental"", ""Agraphias, Pure"", ""Constructional Agraphia"", ""Constructional Agraphias"", ""Developmental Agraphia"", ""Developmental Agraphias"", ""Developmental Dysgraphia"", ""Developmental Dysgraphias"", ""Dysgraphia"", ""Dysgraphia, Acquired"", ""Dysgraphia, Developmental"", ""Dysgraphias"", ""Dysgraphias, Acquired"", ""Dysgraphias, Developmental"", ""Pure Agraphia"", ""Pure Agraphias"", ""[D]Agraphia""" MeSH:D000381(Agraphia), SnoMedCT:206990000([D]Agraphia), SnoMedCT:27206009(Agraphia), UMLS:C0001825(C0001825), MedDRA:10001508(Agraphia), NDFRT:N0000000342(Agraphia [Disease/Finding]), MONDO:MONDO:0000716(agraphia) +PA443302 Airway Obstruction """Airway Obstructions"", ""Choking"", ""Obstruction, Airway"", ""Obstructions, Airway""" MeSH:D000402(Airway Obstruction), SnoMedCT:79688008(Respiratory obstruction), UMLS:C0001883(C0001883), MedDRA:10001536(Airway obstruction NOS), NDFRT:N0000000346(Airway Obstruction [Disease/Finding]), HP:HP:0006536(Airway obstruction) +PA446376 Alagille Syndrome """Arteriohepatic Dysplasia"", ""Arteriohepatic Dysplasias"", ""Dysplasia, Arteriohepatic"", ""Dysplasias, Arteriohepatic"", ""Syndrome, Alagille"", ""Watson-Alagille syndrome""" MeSH:D016738(Alagille Syndrome), SnoMedCT:31742004(Arteriohepatic dysplasia), UMLS:C0085280(C0085280), MedDRA:10053870(Alagille syndrome), NDFRT:N0000003467(Alagille Syndrome [Disease/Finding]), MONDO:MONDO:0007318(Alagille syndrome) +PA443304 Albinism """Albinism, NOS"", ""Albinismus"", ""Albinismus, NOS""" MeSH:D000417(Albinism), SnoMedCT:15890002(Albinism), UMLS:C0001916(C0001916), MedDRA:10001557(Albinism), NDFRT:N0000000348(Albinism [Disease/Finding]), MONDO:MONDO:0043209(albinism), HP:HP:0001022(Albinism) +PA443305 Albuminuria Albuminurias, [D]Albuminuria MeSH:D000419(Albuminuria), SnoMedCT:207311002([D]Albuminuria), SnoMedCT:274769005(Albuminuria), UMLS:C0001925(C0001925), MedDRA:10001580(Albuminuria), NDFRT:N0000000349(Albuminuria [Disease/Finding]), HP:HP:0012592(Albuminuria) +PA443309 Alcohol abuse """Abuse, Alcohol"", ""Alcohol Abuse"", ""Alcohol problem drinking"", ""Alcoholic Intoxication, Chronic"", ""Alcoholism"", ""Chronic Alcoholic Intoxication"", ""Chronic alcohol abuse"", ""Chronic alcoholism"", ""Intoxication, Chronic Alcoholic"", ""Persistent alcohol abuse"", ""Unspecified chronic alcoholism"", ""alcohol dependence""" MeSH:D000437(Alcoholism), SnoMedCT:191809008(Unspecified chronic alcoholism), SnoMedCT:191814007(Chronic alcoholism NOS), SnoMedCT:191815008(Alcohol dependence syndrome NOS), SnoMedCT:284591009(Persistent alcohol abuse), SnoMedCT:66590003(Alcohol dependence), SnoMedCT:7200002(Alcoholism), UMLS:C0001973(C0001973), MedDRA:10001585(Alcohol abuse chronic), NDFRT:N0000000353(Alcoholism [Disease/Finding]), MONDO:MONDO:0002046(alcohol abuse), MONDO:MONDO:0007079(alcohol dependence) +PA444802 Alcoholic Liver Diseases """Alcoholic Liver Disease"", ""Alcoholic Liver Diseases"", ""Liver Disease, Alcoholic""" """MeSH:D008108(Liver Diseases, Alcoholic)"", ""UMLS:C0023896(Liver Diseases, Alcoholic [Disease/Finding])"", ""NDFRT:N0000001867(Liver Diseases, Alcoholic [Disease/Finding])"", ""MONDO:MONDO:0043693(alcoholic liver diseases)""" +PA165108315 Alcoholic polyneuropathy Alcoholic peripheral neuropathy MeSH:D020269(Alcoholic Neuropathy), SnoMedCT:7916009(Alcoholic polyneuropathy), UMLS:C0085677(C0085677), MedDRA:10001629(Alcoholic polyneuropathy), NDFRT:N0000004089(Alcoholic Neuropathy [Disease/Finding]), MONDO:MONDO:0006645(alcoholic polyneuropathy) +PA165108900 Alcoholic psychosis alcohol-induced mental disorder """MeSH:D011604(Psychoses, Alcoholic)"", ""SnoMedCT:191482008(Alcoholic psychosis NOS)"", ""UMLS:C0033936(C0033936)"", ""MedDRA:10001631(Alcoholic psychoses)"", ""NDFRT:N0000002530(Psychoses, Alcoholic [Disease/Finding])"", ""MONDO:MONDO:0002330(alcoholic psychosis)""" +PA446879 Alcohol-Related Disorders """Alcohol Related Disorders"", ""Alcohol-Related Disorder"", ""Alcohol-induced organic mental disorder, NOS"", ""Disorder, Alcohol-Related"", ""Disorders, Alcohol-Related""" MeSH:D019973(Alcohol-Related Disorders), SnoMedCT:29212009(Alcohol-induced organic mental disorder), UMLS:C0236664(C0236664), NDFRT:N0000003982(Alcohol-Related Disorders [Disease/Finding]), MONDO:MONDO:0007079(alcohol dependence), MONDO:MONDO:0021698(alcohol-related disorders) +PA443307 Alcohol Withdrawal Delirium """Alcohol Withdrawal Associated Autonomic Hyperactivity"", ""Alcohol Withdrawal Hallucinosis"", ""Alcohol Withdrawal Induced Delirium Tremens"", ""Alcohol Withdrawal-Induced Delirium Tremens"", ""Autonomic Hyperactivity, Alcohol Withdrawal Associated"", ""DTs - delirium tremens"", ""Delirium Tremens"", ""Delirium Tremens, Alcohol Withdrawal Induced"", ""Delirium tremens"", ""Delirium, Alcohol Withdrawal"", ""Hallucinosis, Alcohol Withdrawal""" MeSH:D000430(Alcohol Withdrawal Delirium), SnoMedCT:8635005(Alcohol withdrawal delirium), UMLS:C0001957(C0001957), MedDRA:10001610(Alcohol withdrawal delirium), NDFRT:N0000000351(Alcohol Withdrawal Delirium [Disease/Finding]), MONDO:MONDO:0006642(alcohol withdrawal delirium) +PA446985 Alcohol Withdrawal Seizures """Alcoholic Seizures"", ""Seizure, Alcohol Withdrawal"", ""Withdrawal Seizure, Alcohol"", ""Withdrawal-Induced Seizure, Alcohol""" MeSH:D020270(Alcohol Withdrawal Seizures), SnoMedCT:308742005(Alcohol withdrawal-induced convulsion), SnoMedCT:361267005(Alcohol-related fit), SnoMedCT:361268000(Alcohol-induced epilepsy), UMLS:C0586323(C0586323), MedDRA:10056347(Alcoholic seizure), NDFRT:N0000004090(Alcohol Withdrawal Seizures [Disease/Finding]) +PA152241270 Alexander Disease Alexander disease, Fibrinoid leukodystrophy MeSH:D038261(Alexander Disease), SnoMedCT:81854007(Alexander's disease), UMLS:C0270726(C0270726), NDFRT:N0000010949(Alexander Disease [Disease/Finding]), MONDO:MONDO:0008752(Alexander disease) +PA443311 Alkalosis """Alkaloses"", ""Alkalosis, NOS""" MeSH:D000471(Alkalosis), SnoMedCT:190892004(Alkalosis NOS), SnoMedCT:21420006(Alkalosis), UMLS:C0002063(C0002063), MedDRA:10001680(Alkalosis), NDFRT:N0000000355(Alkalosis [Disease/Finding]), HP:HP:0001948(Alkalosis) +PA165108908 Allergy to peanuts MeSH:D021183(Peanut Hypersensitivity), SnoMedCT:91935009(Allergy to peanuts), UMLS:C0559470(C0559470), MedDRA:10034202(Peanut allergy), NDFRT:N0000011071(Peanut Hypersensitivity [Disease/Finding]), MONDO:MONDO:0005902(obsolete peanut allergic reaction) +PA443314 Alopecia """Alopecia NOS"", ""Alopecia, Androgenetic"", ""Alopecia, Male Pattern"", ""Androgenetic Alopecia"", ""Baldness"", ""Baldness, Male Pattern"", ""Falling hair"", ""Loss of hair"", ""Male Pattern Alopecia"", ""Male Pattern Baldness"", ""Pseudopelade"", ""Thinning hair""" MeSH:D000505(Alopecia), SnoMedCT:201157003(Alopecia NOS), SnoMedCT:267810004(Alopecia unspecified), SnoMedCT:278040002(Loss of hair), SnoMedCT:56317004(Alopecia), UMLS:C0002170(C0002170), MedDRA:10001760(Alopecia), NDFRT:N0000000358(Alopecia [Disease/Finding]), MONDO:MONDO:0004907(alopecia), HP:HP:0001596(Alopecia) +PA443315 Alopecia Areata MeSH:D000506(Alopecia Areata), SnoMedCT:68225006(Alopecia areata), UMLS:C0002171(C0002171), MedDRA:10001761(Alopecia areata), NDFRT:N0000000359(Alopecia Areata [Disease/Finding]), MONDO:MONDO:0005340(alopecia areata) +PA446431 alpha-Thalassemia """Disease, Hemoglobin H"", ""Diseases, Hemoglobin H"", ""Hemoglobin H Disease"", ""Hemoglobin H Diseases"", ""Thalassemia alpha"", ""Thalassemia-alpha"", ""Thalassemia-alphas"", ""alpha Thalassaemia"", ""alpha Thalassemia"", ""alpha-Thalassemias""" MeSH:D017085(alpha-Thalassemia), SnoMedCT:48553001(Hemoglobin H disease), SnoMedCT:68913001(alpha Thalassaemia), UMLS:C0002312(C0002312), MedDRA:10001802(Alpha thalassaemia), NDFRT:N0000003522(alpha-Thalassemia [Disease/Finding]), MONDO:MONDO:0011399(alpha thalassemia spectrum) +PA443319 Alzheimer Disease """AD - Alzheimer's disease"", ""Acute Confusional Senile Dementia"", ""Alzheimer Dementia, Presenile"", ""Alzheimer Disease, Early Onset"", ""Alzheimer Disease, Late Onset"", ""Alzheimer Type Dementia"", ""Alzheimer Type Senile Dementia"", ""Alzheimer's Disease"", ""Alzheimer's Disease, Focal Onset"", ""Alzheimer's disease, NOS"", ""Dementia, Alzheimer Type"", ""Dementia, Presenile"", ""Dementia, Presenile Alzheimer"", ""Dementia, Primary Senile Degenerative"", ""Dementia, Senile"", ""Dementias, Presenile"", ""Dementias, Senile"", ""Disease, Alzheimer"", ""Disease, Alzheimer's"", ""Early Onset Alzheimer Disease"", ""Focal Onset Alzheimer's Disease"", ""Late Onset Alzheimer Disease"", ""Presenile Alzheimer Dementia"", ""Presenile Dementia"", ""Presenile Dementias"", ""Primary Senile Degerative Dementia"", ""Senile Dementia"", ""Senile Dementia, Acute Confusional"", ""Senile Dementia, Alzheimer Type"", ""Senile Dementias""" MeSH:D000544(Alzheimer Disease), SnoMedCT:26929004(Alzheimer's disease), UMLS:C0002395(C0002395), MedDRA:10001896(Alzheimer's disease), NDFRT:N0000000363(Alzheimer Disease [Disease/Finding]), MONDO:MONDO:0004975(Alzheimer disease), HP:HP:0002511(Alzheimer disease) +PA443320 Amblyopia """Amblyopia, Anisometropic"", ""Amblyopia, Developmental"", ""Amblyopia, Stimulus Deprivation Induced"", ""Amblyopia, Stimulus Deprivation-Induced"", ""Amblyopia, Suppression"", ""Amblyopias"", ""Amblyopias, Anisometropic"", ""Amblyopias, Developmental"", ""Amblyopias, Stimulus Deprivation-Induced"", ""Amblyopias, Suppression"", ""Amblyopic"", ""Anisometropic Amblyopia"", ""Anisometropic Amblyopias"", ""Deprivation-Induced Amblyopia, Stimulus"", ""Deprivation-Induced Amblyopias, Stimulus"", ""Developmental Amblyopia"", ""Developmental Amblyopias"", ""Eye, Lazy"", ""Eyes, Lazy"", ""Lazy Eye"", ""Lazy Eyes"", ""Stimulus Deprivation Induced Amblyopia"", ""Stimulus Deprivation-Induced Amblyopia"", ""Stimulus Deprivation-Induced Amblyopias"", ""Suppression Amblyopia"", ""Suppression Amblyopias""" MeSH:D000550(Amblyopia), SnoMedCT:267627009(Unspecified amblyopia), SnoMedCT:387742006(Amblyopia), UMLS:C0002418(C0002418), MedDRA:10001906(Amblyopia), NDFRT:N0000000364(Amblyopia [Disease/Finding]), MONDO:MONDO:0001020(amblyopia), HP:HP:0000646(Amblyopia) +PA165108411 Amebiasis NOS MeSH:D000562(Amebiasis), SnoMedCT:186122001(Amebiasis NOS), UMLS:C0002438(C0002438), MedDRA:10001916(Amebiasis), NDFRT:N0000000365(Amebiasis [Disease/Finding]), MONDO:MONDO:0005644(amebiasis) +PA443323 Amelogenesis Imperfecta Amelogenesis imperfecta MeSH:D000567(Amelogenesis Imperfecta), SnoMedCT:78494001(Amelogenesis imperfecta), UMLS:C0002452(C0002452), NDFRT:N0000000367(Amelogenesis Imperfecta [Disease/Finding]), MONDO:MONDO:0019507(amelogenesis imperfecta), HP:HP:0000705(Amelogenesis imperfecta) +PA443324 Amenorrhea """Absence of menstruation"", ""Absence of menstruation, NOS"", ""Amenorrhea, NOS"", ""Amenorrhea, Postpartum"", ""Amenorrhoea"", ""Amenorrhoea, NOS"", ""Postpartum Amenorrhea"", ""Postpartum Amenorrheas""" MeSH:D000568(Amenorrhea), SnoMedCT:14302001(Amenorrhoea), SnoMedCT:198414005(Amenorrhea NOS), UMLS:C0002453(C0002453), MedDRA:10000326(Absence of menstruation), NDFRT:N0000000368(Amenorrhea [Disease/Finding]), MONDO:MONDO:0001836(amenorrhea), cpgxTags:pgkbTags:1452102240(Maternal Health), HP:HP:0000141(Amenorrhea) +PA443327 Amnesia """Amnesia Memory Loss"", ""Amnesia, Dissociative"", ""Amnesia, Global"", ""Amnesia, Hysterical"", ""Amnesia, Tactile"", ""Amnesia, Temporary"", ""Amnesia-Memory Loss"", ""Amnesia-Memory Losses"", ""Amnesias"", ""Amnesias, Dissociative"", ""Amnesias, Global"", ""Amnesias, Hysterical"", ""Amnesias, Tactile"", ""Amnesias, Temporary"", ""Amnestic State"", ""Amnestic States"", ""Dissociative Amnesia"", ""Dissociative Amnesias"", ""Global Amnesia"", ""Global Amnesias"", ""Hysterical Amnesia"", ""Hysterical Amnesias"", ""Memory loss - amnesia"", ""State, Amnestic"", ""States, Amnestic"", ""Tactile Amnesia"", ""Tactile Amnesias"", ""Temporary Amnesia"", ""Temporary Amnesias""" MONDO:MONDO:0001152(amnestic disorder) +PA166232141 Amplification of sexual behavior Amplification of sexual behavior, Compulsive sexual behaviour, hypersexuality state SnoMedCT:73744004(Hypersexuality state), HP:HP:5200321(Amplification of sexual behavior) +PA443331 Amyloidosis Amyloidoses, Amyloidosis NOS MeSH:D000686(Amyloidosis), SnoMedCT:17602002(Amyloidosis), SnoMedCT:190931005(Amyloidosis NOS), UMLS:C0002726(C0002726), MedDRA:10002021(Amyloid disease), NDFRT:N0000000375(Amyloidosis [Disease/Finding]), MONDO:MONDO:0019065(amyloidosis), HP:HP:0011034(Amyloidosis) +PA447169 Amyloidosis, Familial """Amyloidoses, Familial"", ""Amyloidoses, Hereditary"", ""Amyloidosis, Hereditary"", ""Familial Amyloidoses"", ""Familial Amyloidosis"", ""Hereditary Amyloidoses"", ""Hereditary Amyloidosis""" """MeSH:D028226(Amyloidosis, Familial)"", ""UMLS:C0740340(Amyloidosis, Familial [Disease/Finding])"", ""NDFRT:N0000010964(Amyloidosis, Familial [Disease/Finding])"", ""MONDO:MONDO:0018634(hereditary amyloidosis)""" +PA443332 Amyotrophic Lateral Sclerosis """ALS (Amyotrophic Lateral Sclerosis)"", ""ALSs (Amyotrophic Lateral Sclerosis)"", ""Amyotrophic Lateral Sclerosis With Dementia"", ""Amyotrophic Lateral Sclerosis, Guam Form"", ""Amyotrophic lateral sclerosis"", ""Bulbar motor neuron disease"", ""Dementia With Amyotrophic Lateral Sclerosis"", ""Gehrig Disease"", ""Gehrig's Disease"", ""Gehrigs Disease"", ""Guam Form of Amyotrophic Lateral Sclerosis"", ""Lateral Scleroses, Amyotrophic"", ""Lou Gehrig Disease"", ""Lou Gehrig's Disease"", ""Lou Gehrigs Disease"", ""Motor Neuron Disease, Amyotrophic Lateral Sclerosis"", ""Sclerosis, Amyotrophic Lateral""" MeSH:D000690(Amyotrophic Lateral Sclerosis), SnoMedCT:86044005(Amyotrophic lateral sclerosis), UMLS:C0002736(C0002736), MedDRA:10052889(ALS), NDFRT:N0000000376(Amyotrophic Lateral Sclerosis [Disease/Finding]), MONDO:MONDO:0004976(amyotrophic lateral sclerosis), HP:HP:0007354(Amyotrophic lateral sclerosis) +PA443335 Anaphylaxis """Allergic shock"", ""Anaphylactic Reaction"", ""Anaphylactic Reactions"", ""Anaphylactic Shock"", ""Anaphylactic reaction"", ""Generalized anaphylaxis"", ""Reaction, Anaphylactic"", ""Reactions, Anaphylactic"", ""Shock, Anaphylactic"", ""Systemic anaphylaxis""" MeSH:D000707(Anaphylaxis), SnoMedCT:39579001(Anaphylaxis), UMLS:C0002792(C0002792), MedDRA:10002198(Anaphylactic reaction), NDFRT:N0000000379(Anaphylaxis [Disease/Finding]), MONDO:MONDO:0100053(anaphylaxis) +PA152545828 Anauxetic Dysplasia MeSH:C538256(Anauxetic dysplasia), MONDO:MONDO:0011773(anauxetic dysplasia) +PA166048833 Ancylostomiasis NDFRT:N0000000383(Ancylostomiasis), MONDO:MONDO:0005645(ancylostomiasis) +PA443340 Anemia Absolute anaemia, Anaemia (disorder), Anaemia unspecified, Anemia [dup] (disorder), Anemia unspecified, Anemias MeSH:D000740(Anemia), SnoMedCT:267531008(Anemia unspecified), SnoMedCT:271737000(Anemia), UMLS:C0002871(C0002871), MedDRA:10002034(Anaemia), NDFRT:N0000000384(Anemia [Disease/Finding]), MONDO:MONDO:0002280(anemia), HP:HP:0001903(Anemia) +PA447182 Anemia, Diamond-Blackfan """Anemia, Diamond Blackfan"", ""Chronic constitutional pure red cell anaemia"", ""Chronic constitutional pure red cell aplasia"", ""Congenital erythroid hypoplasia"", ""Congenital hypoplastic anaemia"", ""Congenital hypoplastic anemia"", ""Congenital red cell aplasia"", ""Diamond Blackfan Anemia"", ""Diamond-Blackfan Anemia"", ""Diamond-Blackfan anemia"", ""Diamond-Blackfan syndrome"", ""Familial hypoplastic anaemia"", ""Familial hypoplastic anemia""" """MeSH:D029503(Anemia, Diamond-Blackfan)"", ""SnoMedCT:88854002(Diamond-Blackfan anemia)"", ""UMLS:C1260899(C1260899)"", ""MedDRA:10062988(Diamond-Blackfan anaemia)"", ""NDFRT:N0000010983(Anemia, Diamond-Blackfan [Disease/Finding])"", ""MONDO:MONDO:0015253(Diamond-Blackfan anemia)""" +PA166048920 Anemia, Hypochromic """NDFRT:N0000000391(Anemia, Hypochromic)"", ""MONDO:MONDO:0001357(hypochromic anemia)"", ""HP:HP:0001931(Hypochromic anemia)""" +PA443352 Anemia, Pernicious """Addison Anemia"", ""Addison's Anemia"", ""Addison's anemia"", ""Addisons Anemia"", ""Anemia, Addison"", ""Anemia, Addison's"", ""Anemia, Addisons"", ""Pernicious Anemia"", ""Pernicious anaemia"", ""Pernicious anemia"", ""Pernicious anemia, NOS""" """MeSH:D000752(Anemia, Pernicious)"", ""SnoMedCT:84027009(Pernicious anaemia)"", ""UMLS:C0002892(C0002892)"", ""MedDRA:10055713(Addison's anaemia)"", ""NDFRT:N0000000396(Anemia, Pernicious [Disease/Finding])"", ""MONDO:MONDO:0008228(pernicious anemia)""" +PA443355 Anemia, Sickle Cell """Anemias, Sickle Cell"", ""Disease, Hemoglobin S"", ""Diseases, Hemoglobin S"", ""Drepanocythaemia"", ""Haemoglobin S-S disease"", ""Hb S disease"", ""Hb SS disease"", ""Hemoglobin S Disease"", ""Hemoglobin S Diseases"", ""Hemoglobin S disease"", ""Hemoglobin S-S disease"", ""Sickle Cell Anemia"", ""Sickle Cell Anemias"", ""Sickle cell anaemia"", ""Sickle cell anaemia of unspecified type"", ""Sickle cell anemia of unspecified type"", ""Sickle cell disease"", ""Sickle cell syndrome"", ""Sickling disorder due to haemoglobin S"", ""Sickling disorder due to hemoglobin S""" """MeSH:D000755(Anemia, Sickle Cell)"", ""SnoMedCT:127040003(Hb SS disease)"", ""SnoMedCT:191195005(Sickle cell anemia of unspecified type)"", ""SnoMedCT:191199004(Sickle cell anemia NOS)"", ""SnoMedCT:417357006(Sickling disorder due to haemoglobin S)"", ""UMLS:C0002895(C0002895)"", ""MedDRA:10002077(Anaemia sickle cell)"", ""NDFRT:N0000000399(Anemia, Sickle Cell [Disease/Finding])"", ""MONDO:MONDO:0011382(sickle cell anemia)""" +PA443359 Aneurysm Aneurysm NOS, Aneurysmal dilatation, Aneurysms HP:HP:0002617(Vascular dilatation) +PA446460 Angelman Syndrome """Children, Puppet"", ""Happy Puppet Syndrome"", ""Puppet Children"", ""Syndrome, Angelman"", ""Syndrome, Happy Puppet""" MeSH:D017204(Angelman Syndrome), SnoMedCT:76880004(Angelman syndrome), UMLS:C0162635(C0162635), MedDRA:10049004(Angelman's syndrome), NDFRT:N0000003551(Angelman Syndrome [Disease/Finding]), MONDO:MONDO:0007113(Angelman syndrome) +PA443362 Angina Pectoris Angina, Angina pectoris, Angina pectoris NOS, Anginal syndrome, Angor Pectoris, Ischaemic chest pain, Ischaemic heart disease - angina, Ischemic chest pain, Stenocardia, Stenocardias MeSH:D000787(Angina Pectoris), SnoMedCT:194828000(Angina), SnoMedCT:194830003(Angina pectoris NOS), SnoMedCT:225566008(Ischaemic chest pain), UMLS:C0002962(C0002962), MedDRA:10002372(Angina), NDFRT:N0000000406(Angina Pectoris [Disease/Finding]), HP:HP:0001681(Angina pectoris) +PA443371 Angioedema """Angio-oedema"", ""Angio-oedema-urticaria"", ""Angioedema"", ""Angioedema, Hereditary"", ""Angioedema, NOS"", ""Angioedemas"", ""Angioneurotic Edema"", ""Angioneurotic Edemas"", ""Angioneurotic edema"", ""Angioneurotic edema, NOS"", ""Angioneurotic oedema"", ""Edema, Angioneurotic"", ""Edema, Quincke's"", ""Edemas, Angioneurotic"", ""Giant Urticaria"", ""Giant Urticarias"", ""Giant urticaria"", ""Hereditary angio-oedema"", ""Hereditary angioedema"", ""Hereditary angioneurotic oedema"", ""Quincke Edema"", ""Quincke's Edema"", ""Quincke's disease"", ""Quincke's edema"", ""Quincke's oedema"", ""Quinckes Edema"", ""Urticaria, Giant"", ""Urticaria-angio-oedema"", ""Urticaria-angioedema"", ""Urticarias, Giant""" MeSH:D000799(Angioedema), SnoMedCT:400075008(Giant urticaria), SnoMedCT:41291007(Angioedema), UMLS:C0002994(C0002994), MedDRA:10002394(Angio-edema), NDFRT:N0000000415(Angioedema [Disease/Finding]), MONDO:MONDO:0010481(angioedema), HP:HP:0100665(Angioedema) +PA446590 Angiomyolipoma Angiomyolipomas MeSH:D018207(Angiomyolipoma), SnoMedCT:19929002(Angiomyolipoma), UMLS:C0206633(C0206633), MedDRA:10051810(Angiomyolipoma), NDFRT:N0000003681(Angiomyolipoma [Disease/Finding]), MONDO:MONDO:0002603(angiomyolipoma) +PA444390 Angiosarcoma """Angiosarcoma"", ""Angiosarcomas"", ""Haemangioendothelioma, malignant"", ""Hemangioendothelioma, malignant"", ""Hemangiosarcomas"", ""Malignant haemangioendothelioma"", ""Malignant hemangioendothelioma""" """MeSH:D006394(Hemangiosarcoma)"", ""SnoMedCT:33176006(Haemangioendothelioma, malignant)"", ""SnoMedCT:39000009(Hemangiosarcoma)"", ""SnoMedCT:403977003(Angiosarcoma)"", ""UMLS:C0018923(C0018923)"", ""MedDRA:10002476(Angiosarcoma)"", ""NDFRT:N0000001454(Hemangiosarcoma [Disease/Finding])"", ""MONDO:MONDO:0016982(angiosarcoma)"", ""HP:HP:0200058(Angiosarcoma)""" +PA443378 Anorexia Anorexias, [D]Anorexia MeSH:D000855(Anorexia), SnoMedCT:206915006([D]Anorexia), UMLS:C0003123(C0003123), MedDRA:10052625(Anorectic), NDFRT:N0000000421(Anorexia [Disease/Finding]), HP:HP:0002039(Anorexia) +PA447195 Anorexia Nervosa MeSH:D000856(Anorexia Nervosa), SnoMedCT:56882008(Anorexia nervosa), UMLS:C0003125(C0003125), MedDRA:10002649(Anorexia nervosa), NDFRT:N0000000422(Anorexia Nervosa [Disease/Finding]), MONDO:MONDO:0005351(anorexia nervosa) +PA443385 Anthrax Anthrax NOS, Charbon, Infection due to Bacillus anthracis, Milzbrand, Splenic fever MeSH:D000881(Anthrax), SnoMedCT:186304006(Anthrax NOS), SnoMedCT:409498004(Anthrax), UMLS:C0003175(C0003175), MedDRA:10002713(Anthrax), NDFRT:N0000000429(Anthrax [Disease/Finding]), MONDO:MONDO:0005119(anthrax infection) +PA166048729 Anuria NDFRT:N0000000431(Anuria), MONDO:MONDO:0002476(anuria), HP:HP:0100519(Anuria) +PA447196 Anxiety Disorders Anxiety disorder MeSH:D001008(Anxiety Disorders), SnoMedCT:197480006(Anxiety disorder), UMLS:C0003469(C0003469), MedDRA:10057666(Anxiety disorder), NDFRT:N0000000435(Anxiety Disorders [Disease/Finding]), MONDO:MONDO:0005618(anxiety disorder) +PA443390 Aortic Aneurysm """Aneurysm, Aortic"", ""Aneurysms, Aortic"", ""Aortic Aneurysms""" MeSH:D001014(Aortic Aneurysm), SnoMedCT:195269009(Aortic aneurysm NOS), SnoMedCT:67362008(Aortic aneurysm), UMLS:C0003486(C0003486), MedDRA:10002330(Aneurysm aortic), NDFRT:N0000000437(Aortic Aneurysm [Disease/Finding]), MONDO:MONDO:0005160(aortic aneurysm), HP:HP:0004942(Aortic aneurysm) +PA443392 Aortic Coarctation """Aortic Coarctations"", ""Aortic coarctation"", ""Coarctation, Aortic"", ""Coarctations, Aortic""" MeSH:D001017(Aortic Coarctation), SnoMedCT:204419005(Coarctation of aorta NOS), SnoMedCT:7305005(Coarctation of aorta), UMLS:C0003492(C0003492), MedDRA:10002894(Aortic coarctation), NDFRT:N0000000439(Aortic Coarctation [Disease/Finding]), MONDO:MONDO:0007345(aorta coarctation) +PA443396 Aortic Valve Insufficiency """Aortic Incompetence"", ""Aortic Regurgitation"", ""Aortic Valve Incompetence"", ""Aortic incompetence"", ""Aortic regurgitation"", ""Aortic regurgitation, NOS"", ""Aortic valve incompetence, NOS"", ""Incompetence, Aortic"", ""Incompetence, Aortic Valve"", ""Insufficiency, Aortic Valve"", ""Regurgitation, Aortic"", ""Regurgitation, Aortic Valve""" MeSH:D001022(Aortic Valve Insufficiency), SnoMedCT:60234000(Aortic valve regurgitation), UMLS:C0003504(C0003504), MedDRA:10002898(Aortic incompetence), NDFRT:N0000000443(Aortic Valve Insufficiency [Disease/Finding]), MONDO:MONDO:0005648(aortic valve insufficiency) +PA443398 Aortic Valve Stenosis """Aortic Stenosis"", ""Aortic Valve Stenoses"", ""Aortic stenosis"", ""Aortic valve stenosis, NOS"", ""Stenosed aortic valve"", ""Stenoses, Aortic"", ""Stenoses, Aortic Valve"", ""Stenosis, Aortic"", ""Stenosis, Aortic Valve"", ""Valve Stenoses, Aortic"", ""Valve Stenosis, Aortic""" MONDO:MONDO:0042981(aortic valve stenosis), HP:HP:0001650(Aortic valve stenosis) +PA165960681 Apathy MeSH:D057565(Apathy), UMLS:C0085632(Apathy), MedDRA:10002942(Apathy), HP:HP:0000741(Apathy) +PA443403 Aphasia """Acquired Aphasia"", ""Ageusic Aphasia"", ""Ageusic Aphasias"", ""Alogia"", ""Alogias"", ""Anepia"", ""Anepias"", ""Aphasia, Acquired"", ""Aphasia, Ageusic"", ""Aphasia, Auditory Discriminatory"", ""Aphasia, Commisural"", ""Aphasia, Functional"", ""Aphasia, Global"", ""Aphasia, Graphomotor"", ""Aphasia, Intellectual"", ""Aphasia, Mixed"", ""Aphasia, Post Ictal"", ""Aphasia, Post Traumatic"", ""Aphasia, Post-Ictal"", ""Aphasia, Post-Traumatic"", ""Aphasia, Progressive"", ""Aphasia, Semantic"", ""Aphasia, Syntactical"", ""Aphasias, Ageusic"", ""Aphasias, Auditory Discriminatory"", ""Aphasias, Commisural"", ""Aphasias, Functional"", ""Aphasias, Global"", ""Aphasias, Graphomotor"", ""Aphasias, Intellectual"", ""Aphasias, Mixed"", ""Aphasias, Post-Ictal"", ""Aphasias, Post-Traumatic"", ""Aphasias, Progressive"", ""Aphasias, Semantic"", ""Aphasias, Syntactical"", ""Aphasic disturbance, NOS"", ""Auditory Discriminatory Aphasia"", ""Auditory Discriminatory Aphasias"", ""Commisural Aphasia"", ""Commisural Aphasias"", ""Dejerine Lichtheim Phenomenon"", ""Dejerine-Lichtheim Phenomenon"", ""Discriminatory Aphasia, Auditory"", ""Discriminatory Aphasias, Auditory"", ""Dysphasia"", ""Dysphasia, Global"", ""Dysphasias, Global"", ""Functional Aphasia"", ""Functional Aphasias"", ""Global Aphasia"", ""Global Aphasias"", ""Global Dysphasia"", ""Global Dysphasias"", ""Graphomotor Aphasia"", ""Graphomotor Aphasias"", ""Intellectual Aphasia"", ""Intellectual Aphasias"", ""Lichtheim Sign"", ""Lichtheim's Sign"", ""Lichtheims Sign"", ""Logagnosia"", ""Logagnosias"", ""Logamnesia"", ""Logamnesias"", ""Logasthenia"", ""Logasthenias"", ""Mixed Aphasia"", ""Mixed Aphasias"", ""Phenomenon, Dejerine-Lichtheim"", ""Post-Ictal Aphasia"", ""Post-Ictal Aphasias"", ""Post-Traumatic Aphasia"", ""Post-Traumatic Aphasias"", ""Progressive Aphasia"", ""Progressive Aphasias"", ""Semantic Aphasia"", ""Semantic Aphasias"", ""Sign, Lichtheim's"", ""Syntactical Aphasia"", ""Syntactical Aphasias"", ""[D]Aphasia""" MeSH:D001037(Aphasia), SnoMedCT:206967005([D]Aphasia), SnoMedCT:87486003(Aphasia), UMLS:C0003537(C0003537), MedDRA:10002948(Aphasia), NDFRT:N0000000450(Aphasia [Disease/Finding]), MONDO:MONDO:0000598(aphasia), HP:HP:0002381(Aphasia) +PA443341 Aplastic Anemia """Anemia, Hypoplastic"", ""Anemias, Aplastic"", ""Anemias, Hypoplastic"", ""Aplastic Anemia"", ""Aplastic Anemias"", ""Aplastic anaemia"", ""Aplastic anaemia NOS"", ""Aplastic anemia"", ""Erythroid aplasia"", ""Haematopoietic aplasia"", ""Hematopoietic aplasia"", ""Hypoplastic Anemia"", ""Hypoplastic Anemias""" """MeSH:D000741(Anemia, Aplastic)"", ""SnoMedCT:191258001(Aplastic anemia NOS)"", ""SnoMedCT:304132006(Haematopoietic aplasia)"", ""SnoMedCT:306058006(Aplastic anemia)"", ""UMLS:C0002874(C0002874)"", ""MedDRA:10002037(Anaemia aplastic)"", ""NDFRT:N0000000385(Anemia, Aplastic [Disease/Finding])"", ""MONDO:MONDO:0015909(aplastic anemia)"", ""HP:HP:0001915(Aplastic anemia)""" +PA443407 Apnea """Apnea, NOS"", ""Apneas"", ""Apneic"", ""Apnoea"", ""Apnoea, NOS"", ""Apnoeic"", ""Has stopped breathing"", ""Not breathing"", ""[D]Apnea"", ""[D]Apnoea""" MeSH:D001049(Apnea), SnoMedCT:1023001(Apnoea), SnoMedCT:207053005([D]Apnea), UMLS:C0003578(C0003578), MedDRA:10002972(Apnea), NDFRT:N0000000454(Apnea [Disease/Finding]), HP:HP:0002104(Apnea) +PA166248161 Apnea of prematurity Apnea of prematurity (disorder) SnoMedCT:276544005(Apnea of prematurity), MONDO:MONDO:0020567(apnea of prematurity), HP:HP:0034236(Apnea of prematurity) +PA165108990 Appendicitis MONDO:MONDO:0005649(appendicitis), HP:HP:6000143(Appendicitis) +PA443410 Apraxias """Apraxia"", ""Apraxia of Phonation"", ""Apraxia, Articulatory"", ""Apraxia, Developmental Verbal"", ""Apraxia, Dressing"", ""Apraxia, Facial Oral"", ""Apraxia, Facial-Oral"", ""Apraxia, Gestural"", ""Apraxia, Ideational"", ""Apraxia, Motor"", ""Apraxia, Oral"", ""Apraxia, Verbal"", ""Apraxias, Articulatory"", ""Apraxias, Developmental Verbal"", ""Apraxias, Dressing"", ""Apraxias, Facial-Oral"", ""Apraxias, Gestural"", ""Apraxias, Ideational"", ""Apraxias, Motor"", ""Apraxias, Oral"", ""Apraxias, Verbal"", ""Articulatory Apraxia"", ""Articulatory Apraxias"", ""Articulatory Dyspraxia"", ""Articulatory Dyspraxias"", ""Developmental Verbal Apraxia"", ""Developmental Verbal Apraxias"", ""Dressing Apraxia"", ""Dressing Apraxias"", ""Dyspraxia"", ""Dyspraxia, Articulatory"", ""Dyspraxia, Oral"", ""Dyspraxia, Verbal"", ""Dyspraxias"", ""Dyspraxias, Articulatory"", ""Dyspraxias, Oral"", ""Dyspraxias, Verbal"", ""Facial-Oral Apraxia"", ""Facial-Oral Apraxias"", ""Gestural Apraxia"", ""Gestural Apraxias"", ""Ideational Apraxia"", ""Ideational Apraxias"", ""Motor Apraxia"", ""Motor Apraxias"", ""Oral Apraxia"", ""Oral Apraxias"", ""Oral Dyspraxia"", ""Oral Dyspraxias"", ""Phonation Apraxia"", ""Phonation Apraxias"", ""Verbal Apraxia"", ""Verbal Apraxia, Developmental"", ""Verbal Apraxias"", ""Verbal Apraxias, Developmental"", ""Verbal Dyspraxia"", ""Verbal Dyspraxias"", ""[D]Apraxia""" MeSH:D001072(Apraxias), SnoMedCT:206991001([D]Apraxia), SnoMedCT:68345001(Apraxia), SnoMedCT:6950007(Dyspraxia), UMLS:C0003635(C0003635), MedDRA:10003062(Apraxia), NDFRT:N0000000458(Apraxias [Disease/Finding]), MONDO:MONDO:0000665(apraxia), MONDO:MONDO:0005638(agnosia) +PA446847 Arrhythmogenic right ventricular cardiomyopathy """Arrhythmogenic Right Ventricular Cardiomyopathy"", ""Arrhythmogenic right ventricular cardiomyopathy"", ""Arrhythmogenic right ventricular dysplasia"", ""Arrythmogenic right ventricular dysplasia"", ""Right Ventricular Dysplasia, Arrhythmogenic"", ""Ventricular Dysplasia, Right, Arrhythmogenic""" MeSH:D019571(Arrhythmogenic Right Ventricular Dysplasia), SnoMedCT:253528005(Arrhythmogenic right ventricular dysplasia), SnoMedCT:281170005(Arrhythmogenic right ventricular cardiomyopathy), UMLS:C0349788(C0349788), MedDRA:10058093(Arrhythmogenic right ventricular dysplasia), NDFRT:N0000003938(Arrhythmogenic Right Ventricular Dysplasia [Disease/Finding]), MONDO:MONDO:0016587(arrhythmogenic right ventricular cardiomyopathy) +PA446977 Arsenic Poisoning """Arsenic Encephalopathies"", ""Arsenic Encephalopathy"", ""Arsenic Induced Polyneuropathy"", ""Arsenic Poisoning, Inorganic"", ""Arsenic Poisoning, Nervous System"", ""Arsenic Poisoning, Organic"", ""Arsenic Poisonings"", ""Arsenic Poisonings, Inorganic"", ""Arsenic Poisonings, Organic"", ""Arsenic or arsenic compound causing toxic effect"", ""Arsenic-Induced Polyneuropathies"", ""Arsenic-Induced Polyneuropathy"", ""Arsenical Neurotoxicity Syndrome"", ""Arsenical Neurotoxicity Syndromes"", ""Arsenical toxicity"", ""Encephalopathies, Arsenic"", ""Encephalopathy, Arsenic"", ""Inorganic Arsenic Poisoning"", ""Inorganic Arsenic Poisonings"", ""Nervous System Poisoning, Arsenic"", ""Nervous System, Organic Arsenic Poisoning"", ""Neurotoxicity Syndrome, Arsenical"", ""Neurotoxicity Syndromes, Arsenical"", ""Organic Arsenic Poisoning"", ""Organic Arsenic Poisoning, Nervous System"", ""Organic Arsenic Poisonings"", ""Poisoning by arsenic or its compounds of undetermined intent"", ""Poisoning, Arsenic"", ""Poisoning, Arsenic, Nervous System"", ""Poisoning, Inorganic Arsenic"", ""Poisoning, Organic Arsenic"", ""Poisonings, Arsenic"", ""Poisonings, Inorganic Arsenic"", ""Poisonings, Organic Arsenic"", ""Polyneuropathy, Arsenic Induced"", ""Polyneuropathy, Arsenic-Induced"", ""Syndrome, Arsenical Neurotoxicity"", ""Syndromes, Arsenical Neurotoxicity"", ""Toxic effect of arsenic AND/OR its compounds"", ""Toxic effect of arsenic and its compounds, NOS""" MeSH:D020261(Arsenic Poisoning), SnoMedCT:418685002(Poisoning by arsenic or its compounds of undetermined intent), SnoMedCT:81844008(Toxic effect of arsenic AND/OR its compounds), UMLS:C0311375(C0311375), MedDRA:10067491(Toxic effect of arsenic), NDFRT:N0000004082(Arsenic Poisoning [Disease/Finding]) +PA443425 Arteriosclerosis """Arterial Fatty Streak"", ""Arterial Fatty Streaks"", ""Arterioloscleroses"", ""Arteriolosclerosis"", ""Arterioscleroses"", ""Arteriosclerosis, NOS"", ""Arteriosclerotic vascular disease"", ""Arteriosclerotic vascular disease NOS"", ""Atheroma"", ""Atheromas"", ""Atheroscleroses"", ""Atherosclerosis"", ""Calcific Scleroses, Medial"", ""Calcific Sclerosis, Medial"", ""Fatty Streak, Arterial"", ""Fatty Streaks, Arterial"", ""Medial Calcific Scleroses"", ""Medial Calcific Sclerosis"", ""Monkeberg Medial Calcific Sclerosis"", ""Monkeberg's Medial Calcific Sclerosis"", ""Scleroses, Medial Calcific"", ""Sclerosis, Medial Calcific"", ""Streak, Arterial Fatty"", ""Streaks, Arterial Fatty"", ""Vascular sclerosis""" MeSH:D001161(Arteriosclerosis), SnoMedCT:107671003(Vascular sclerosis), SnoMedCT:195257001(Arteriosclerotic vascular disease NOS), SnoMedCT:28960008(Arteriosclerosis), SnoMedCT:72092001(Arteriosclerotic vascular disease), UMLS:C0003850(C0003850), MedDRA:10003210(Arteriosclerosis), NDFRT:N0000000473(Arteriosclerosis [Disease/Finding]), MONDO:MONDO:0002277(arteriosclerosis disorder), HP:HP:0002634(Arteriosclerosis) +PA165108505 Arteriosclerosis obliterans MeSH:D001162(Arteriosclerosis Obliterans), SnoMedCT:361133006(Arteriosclerosis obliterans), UMLS:C0003851(C0003851), MedDRA:10065418(Arteriosclerosis obliterans), NDFRT:N0000000474(Arteriosclerosis Obliterans [Disease/Finding]), MONDO:MONDO:0006659(arteriosclerosis obliterans) +PA446761 Arthralgia """Arthralgias"", ""Articular pain"", ""Joint Pain"", ""Joint Pains"", ""Joint pain"", ""Pain, Joint"", ""Pains, Joint"", ""Polyarthralgia"", ""Polyarthralgias""" MeSH:D018771(Arthralgia), SnoMedCT:202499005(Arthralgia NOS), SnoMedCT:57676002(Joint pain), UMLS:C0003862(C0003862), MedDRA:10000449(Aching joints), NDFRT:N0000003851(Arthralgia [Disease/Finding]), HP:HP:0002829(Arthralgia) +PA443430 Arthritis """Arthritides"", ""Arthritis, NOS"", ""Polyarthritides"", ""Polyarthritis""" MeSH:D001168(Arthritis), SnoMedCT:3723001(Arthritis), UMLS:C0003864(C0003864), MedDRA:10003246(Arthritis), NDFRT:N0000000478(Arthritis [Disease/Finding]), MONDO:MONDO:0005578(arthritic joint disease), HP:HP:0001369(Arthritis) +PA446114 Arthritis, Gouty """Arthritides, Gouty"", ""Articular gout"", ""Gouty Arthritides"", ""Gouty Arthritis"", ""Gouty arthritis"", ""Gouty arthritis of unspecified site"", ""Gouty arthritis, NOS"", ""Gouty arthropathy""" """MeSH:D015210(Arthritis, Gouty)"", ""SnoMedCT:170733007(Joints gout affected)"", ""SnoMedCT:190828008(Gouty arthropathy)"", ""SnoMedCT:201662001(Gouty arthritis of unspecified site)"", ""SnoMedCT:201672003(Gouty arthritis NOS)"", ""SnoMedCT:48440001(Articular gout)"", ""UMLS:C0003868(C0003868)"", ""MedDRA:10003257(Arthritis gouty)"", ""NDFRT:N0000003204(Arthritis, Gouty [Disease/Finding])"", ""MONDO:MONDO:0005393(gout)"", ""HP:HP:0001997(Gout)""" +PA446198 Arthritis, Psoriatic """Arthritic Psoriasis"", ""PA - Psoriatic arthritis"", ""PsA - Psoriatic arthritis"", ""Psoriasis Arthropathica"", ""Psoriasis, Arthritic"", ""Psoriatic Arthritis"", ""Psoriatic arthritis""" """MeSH:D015535(Arthritis, Psoriatic)"", ""SnoMedCT:200959009(Psoriatic arthropathy NOS)"", ""SnoMedCT:33339001(Psoriasis with arthropathy)"", ""UMLS:C0003872(C0003872)"", ""MedDRA:10003377(Arthropathy psoriatic)"", ""NDFRT:N0000003287(Arthritis, Psoriatic [Disease/Finding])"", ""MONDO:MONDO:0011849(psoriatic arthritis)""" +PA443435 Arthrogryposis """Amyoplasia Congenita"", ""Arthrogryposes"", ""Arthromyodysplasia, Congenital"", ""Arthromyodysplasias, Congenital"", ""Congenital Arthromyodysplasia"", ""Congenital Arthromyodysplasias"", ""Guerin Stern Syndrome"", ""Guerin-Stern Syndrome"", ""Myodystrophia Fetalis Deformans"", ""Syndrome, Guerin-Stern""" """MeSH:D001176(Arthrogryposis)"", ""SnoMedCT:111246005(Arthrogryposis)"", ""SnoMedCT:205403009(Arthrogryposis, unspecified)"", ""UMLS:C0003886(C0003886)"", ""MedDRA:10051643(Congenital multiplex arthrogryposis)"", ""NDFRT:N0000000483(Arthrogryposis [Disease/Finding])"", ""MONDO:MONDO:0008779(arthrogryposis)"", ""MONDO:MONDO:0015168(arthrogryposis multiplex congenita)"", ""MONDO:MONDO:0015225(arthrogryposis syndrome)""" +PA152545865 Arts Syndrome MONDO:MONDO:0010533(Arts syndrome) +PA166048864 Ascariasis NDFRT:N0000000488(Ascariasis), MONDO:MONDO:0005654(ascariasis) +PA166048834 Ascaridida Infections NDFRT:N0000003545(Ascaridida Infections), MONDO:MONDO:0005656(Ascaridida infectious disease) +PA443442 Ascites Abdominal dropsy, Hydroperitoneum, Hydroperitonia, Hydrops abdominis, Peritoneal dropsy, [D]Ascites, [D]Fluid in peritoneal cavity HP:HP:0001541(Ascites) +PA166048796 Ascorbic Acid Deficiency NDFRT:N0000000491(Ascorbic Acid Deficiency), MONDO:MONDO:0009412(scurvy) +PA443444 Aspergillosis Aspergilloses, Aspergillosis Infection MeSH:D001228(Aspergillosis), SnoMedCT:65553006(Aspergillosis), UMLS:C0004030(C0004030), MedDRA:10003488(Aspergillosis), NDFRT:N0000000492(Aspergillosis [Disease/Finding]), MONDO:MONDO:0005657(aspergillosis) +PA131285571 Aspirin-induced asthma ASA-exacerbated respiratory disease, ASA-induced asthma, Aspirin-induced asthma, NERD, NSAID-exacerbated respiratory disease """SnoMedCT:407674008(Aspirin-induced asthma)"", ""UMLS:C1319853(C1319853)"", ""NDFRT:N0000181214(Asthma, Aspirin-Induced [Disease/Finding])"", ""HP:HP:0012042(Aspirin-induced asthma)""" +PA443448 Asthenia Asthenia [D], Asthenias, Debility, Feeling weak, General weakness, Lassitude, Weakness, [D]Asthenia MeSH:D001247(Asthenia), SnoMedCT:13791008(Asthenia), SnoMedCT:274236006([D]Asthenia), UMLS:C0004093(C0004093), MedDRA:10003549(Asthenia), NDFRT:N0000000496(Asthenia [Disease/Finding]), HP:HP:0025406(Asthenia) +PA443450 Asthma """Airway hyperreactivity"", ""Asthma NOS"", ""Asthma unspecified"", ""Asthma, Bronchial"", ""Asthmas"", ""Asthmas, Bronchial"", ""Asthmatic"", ""BHR - Bronchial hyperreactivity"", ""Bronchial Asthma"", ""Bronchial Asthmas"", ""Bronchial asthma"", ""Bronchial hyperreactivity"", ""Bronchial hyperresponsiveness"", ""Bronchial hypersensitivity"", ""Hyperreactive airways disease""" MeSH:D001249(Asthma), SnoMedCT:195967001(Asthma), SnoMedCT:195979001(Asthma unspecified), SnoMedCT:266365004(Asthma NOS), UMLS:C0004096(C0004096), MedDRA:10003553(Asthma), NDFRT:N0000000498(Asthma [Disease/Finding]), MONDO:MONDO:0004979(asthma), HP:HP:0002099(Asthma) +PA443451 Asthma, Exercise-Induced """Asthma, Exercise Induced"", ""Asthmas, Exercise-Induced"", ""Bronchospasm, Exercise Induced"", ""Bronchospasm, Exercise-Induced"", ""Bronchospasms, Exercise-Induced"", ""Exercise Induced Asthma"", ""Exercise Induced Bronchospasm"", ""Exercise-Induced Asthma"", ""Exercise-Induced Asthmas"", ""Exercise-Induced Bronchospasm"", ""Exercise-Induced Bronchospasms""" """MeSH:D001250(Asthma, Exercise-Induced)"", ""SnoMedCT:31387002(Exercise-induced asthma)"", ""UMLS:C0004099(C0004099)"", ""MedDRA:10003557(Asthma exercise induced)"", ""NDFRT:N0000000499(Asthma, Exercise-Induced [Disease/Finding])"", ""HP:HP:0012652(Exercise-induced asthma)""" +PA443453 Astrocytoma """Anaplastic Astrocytoma"", ""Anaplastic Astrocytomas"", ""Astrocytic Glioma"", ""Astrocytic Gliomas"", ""Astrocytic glioma"", ""Astrocytoma of brain"", ""Astrocytoma, Anaplastic"", ""Astrocytoma, Cerebral"", ""Astrocytoma, Childhood Cerebral"", ""Astrocytoma, Fibrillary"", ""Astrocytoma, Gemistocytic"", ""Astrocytoma, Grade I"", ""Astrocytoma, Grade II"", ""Astrocytoma, Grade III"", ""Astrocytoma, Intracranial"", ""Astrocytoma, Juvenile Pilocytic"", ""Astrocytoma, NOS"", ""Astrocytoma, Pilocytic"", ""Astrocytoma, Protoplasmic"", ""Astrocytoma, Subependymal Giant Cell"", ""Astrocytoma, low grade"", ""Astrocytoma, no ICD-O subtype"", ""Astrocytomas"", ""Astrocytomas, Anaplastic"", ""Astrocytomas, Cerebral"", ""Astrocytomas, Childhood Cerebral"", ""Astrocytomas, Fibrillary"", ""Astrocytomas, Gemistocytic"", ""Astrocytomas, Grade I"", ""Astrocytomas, Grade II"", ""Astrocytomas, Grade III"", ""Astrocytomas, Intracranial"", ""Astrocytomas, Juvenile Pilocytic"", ""Astrocytomas, Pilocytic"", ""Astrocytomas, Protoplasmic"", ""Astroglioma"", ""Astrogliomas"", ""Cerebral Astrocytoma"", ""Cerebral Astrocytoma, Childhood"", ""Cerebral Astrocytomas"", ""Cerebral Astrocytomas, Childhood"", ""Childhood Cerebral Astrocytoma"", ""Childhood Cerebral Astrocytomas"", ""Cystic astrocytoma"", ""Diffuse astrocytoma"", ""Diffuse astrocytoma, low grade"", ""Fibrillary Astrocytoma"", ""Fibrillary Astrocytomas"", ""Gemistocytic Astrocytoma"", ""Gemistocytic Astrocytomas"", ""Glioma, Astrocytic"", ""Gliomas, Astrocytic"", ""Grade I Astrocytoma"", ""Grade I Astrocytomas"", ""Grade II Astrocytoma"", ""Grade II Astrocytomas"", ""Grade III Astrocytoma"", ""Grade III Astrocytomas"", ""Intracranial Astrocytoma"", ""Intracranial Astrocytomas"", ""Juvenile Pilocytic Astrocytoma"", ""Juvenile Pilocytic Astrocytomas"", ""Mixed Oligoastrocytoma"", ""Mixed Oligoastrocytomas"", ""Oligoastrocytoma, Mixed"", ""Oligoastrocytomas, Mixed"", ""Pilocytic Astrocytoma"", ""Pilocytic Astrocytoma, Juvenile"", ""Pilocytic Astrocytomas"", ""Pilocytic Astrocytomas, Juvenile"", ""Protoplasmic Astrocytoma"", ""Protoplasmic Astrocytomas"", ""Subependymal Giant Cell Astrocytoma"", ""[M]Astrocytoma NOS""" MeSH:D001254(Astrocytoma), SnoMedCT:254938000(Astrocytoma of brain), SnoMedCT:38713004(Astrocytoma), UMLS:C0004114(C0004114), MedDRA:10003571(Astrocytoma), NDFRT:N0000000501(Astrocytoma [Disease/Finding]), MONDO:MONDO:0019781(astrocytoma (excluding glioblastoma)), MONDO:MONDO:0021636(astrocytic tumor), HP:HP:0009592(Astrocytoma) +PA443454 Ataxia """Appendicular Ataxia"", ""Appendicular Ataxias"", ""Ataxia [D]"", ""Ataxia, Appendicular"", ""Ataxia, Limb"", ""Ataxia, Motor"", ""Ataxia, NOS"", ""Ataxia, Sensory"", ""Ataxia, Truncal"", ""Ataxias"", ""Ataxias, Appendicular"", ""Ataxias, Limb"", ""Ataxias, Motor"", ""Ataxias, Sensory"", ""Ataxias, Truncal"", ""Ataxy"", ""Coordination Impairment"", ""Coordination Impairments"", ""Coordination Lack"", ""Dyscoordination"", ""Dyssynergia"", ""Impairment, Coordination"", ""Impairments, Coordination"", ""Incoordination"", ""Incoordinations"", ""Lack of Coordination"", ""Limb Ataxia"", ""Limb Ataxias"", ""Motor Ataxia"", ""Motor Ataxias"", ""Rubral Tremor"", ""Rubral Tremors"", ""Sensory Ataxia"", ""Sensory Ataxias"", ""Tremor, Rubral"", ""Tremors, Rubral"", ""Truncal Ataxia"", ""Truncal Ataxias""" MeSH:D001259(Ataxia), SnoMedCT:20262006(Ataxia), SnoMedCT:274241003([D]Ataxia), UMLS:C0004134(C0004134), MedDRA:10003591(Ataxia), NDFRT:N0000000502(Ataxia [Disease/Finding]), MONDO:MONDO:0100308(atactic disorder), HP:HP:0001251(Ataxia) +PA443455 Ataxia Telangiectasia """Ataxia Telangiectasia Syndrome"", ""Ataxia-Telangiectasia"", ""Louis Bar Syndrome"", ""Louis-Bar Syndrome"", ""Syndrome, Ataxia Telangiectasia"", ""Syndrome, Louis-Bar""" MeSH:D001260(Ataxia Telangiectasia), SnoMedCT:68504005(Ataxia-telangiectasia syndrome), UMLS:C0004135(C0004135), MedDRA:10003594(Ataxia telangiectasia), NDFRT:N0000000503(Ataxia Telangiectasia [Disease/Finding]), MONDO:MONDO:0008840(ataxia telangiectasia) +PA443879 Atopic eczema """AD - Atopic dermatitis"", ""Allergic eczema"", ""Atopic Dermatitides"", ""Atopic Dermatitis"", ""Atopic Eczema"", ""Atopic Neurodermatitides"", ""Atopic Neurodermatitis"", ""Atopic dermatitis"", ""Atopic dermatitis, NOS"", ""Atopic eczema"", ""Atopic neurodermatitis"", ""Canine atopy"", ""Dermatitides, Atopic"", ""Disseminated Neurodermatitides"", ""Disseminated Neurodermatitis"", ""Disseminated neurodermatitis"", ""Eczema, Atopic"", ""Eczema, Infantile"", ""Infantile Eczema"", ""Neurodermatitides, Atopic"", ""Neurodermatitides, Disseminated"", ""Neurodermatitis, Atopic"", ""Neurodermatitis, Disseminated"", ""Prurigo of Besnier""" """MeSH:D003876(Dermatitis, Atopic)"", ""SnoMedCT:200775004(Atopic neurodermatitis)"", ""SnoMedCT:200779005(Atopic dermatitis NOS)"", ""SnoMedCT:24079001(Atopic dermatitis)"", ""UMLS:C0011615(C0011615)"", ""MedDRA:10001711(Allergic dermatitis)"", ""NDFRT:N0000000943(Dermatitis, Atopic [Disease/Finding])"", ""MONDO:MONDO:0004980(atopic eczema)""" +PA443459 Atrial Fibrillation """Atrial Fibrillations"", ""Auricular Fibrillation"", ""Auricular Fibrillations"", ""Fibrillation, Atrial"", ""Fibrillation, Auricular"", ""Fibrillations, Atrial"", ""Fibrillations, Auricular""" MeSH:D001281(Atrial Fibrillation), SnoMedCT:49436004(Atrial fibrillation), UMLS:C0004238(C0004238), MedDRA:10001434(AF), NDFRT:N0000000507(Atrial Fibrillation [Disease/Finding]), MONDO:MONDO:0004981(atrial fibrillation), MONDO:MONDO:1030009(persistent atrial fibrillation), MONDO:MONDO:1030011(paroxysmal atrial fibrillation), HP:HP:0005110(Atrial fibrillation) +PA443460 Atrial Flutter """Atrial Flutters"", ""Auricular Flutter"", ""Auricular Flutters"", ""Flutter, Atrial"", ""Flutter, Auricular"", ""Flutters, Atrial"", ""Flutters, Auricular""" MeSH:D001282(Atrial Flutter), SnoMedCT:5370000(Atrial flutter), UMLS:C0004239(C0004239), MedDRA:10003662(Atrial flutter), NDFRT:N0000000508(Atrial Flutter [Disease/Finding]), MONDO:MONDO:0005310(atrial flutter), HP:HP:0004749(Atrial flutter) +PA446780 Atrial Premature Complexes """Atrial Beat, Premature"", ""Atrial Beats, Premature"", ""Atrial Complex, Premature"", ""Atrial Complices, Premature"", ""Atrial Contraction, Premature"", ""Atrial Contractions, Premature"", ""Atrial Ectopic Beat"", ""Atrial Ectopic Beats"", ""Atrial Extrasystole"", ""Atrial Extrasystoles"", ""Atrial Premature Complex"", ""Atrial Premature Complices"", ""Atrial ectopic"", ""Atrial extrasystoles"", ""Atrial premature complex"", ""Atrial premature contractions"", ""Atrial premature depolarisation"", ""Atrial premature depolarization"", ""Atrial premature systoles"", ""Beat, Atrial Ectopic"", ""Beat, Premature Atrial"", ""Beat, Premature Supraventricular"", ""Beats, Atrial Ectopic"", ""Beats, Premature Atrial"", ""Beats, Premature Supraventricular"", ""Complex, Atrial Premature"", ""Complex, Premature Atrial"", ""Complexes, Atrial Premature"", ""Complices, Atrial Premature"", ""Complices, Premature Atrial"", ""Contraction, Premature Atrial"", ""Contractions, Premature Atrial"", ""Ectopic Beat, Atrial"", ""Ectopic Beats, Atrial"", ""Extrasystole, Atrial"", ""Extrasystoles, Atrial"", ""PAC - Premature atrial contraction"", ""Premature Atrial Beat"", ""Premature Atrial Beats"", ""Premature Atrial Complex"", ""Premature Atrial Complices"", ""Premature Atrial Contraction"", ""Premature Atrial Contractions"", ""Premature Complex, Atrial"", ""Premature Complexes, Atrial"", ""Premature Complices, Atrial"", ""Premature Supraventricular Beat"", ""Premature Supraventricular Beats"", ""Premature atrial contraction"", ""Supraventricular Beat, Premature"", ""Supraventricular Beats, Premature"", ""Supraventricular ectopic beats"", ""Supraventricular premature contraction""" MeSH:D018880(Atrial Premature Complexes), SnoMedCT:284470004(Premature atrial contraction), SnoMedCT:287057009(Atrial premature complex), SnoMedCT:406461004(Ectopic atrial beats), SnoMedCT:63593006(Supraventricular premature beats), UMLS:C0033036(C0033036), MedDRA:10050077(Ectopic atrial beats), NDFRT:N0000003870(Atrial Premature Complexes [Disease/Finding]) +PA447197 Attention Deficit Disorder with Hyperactivity ADHD - Attention deficit disorder with hyperactivity, Attention deficit hyperactivity disorder, Attention deficit hyperkinetic disorder, Hyperkinetic disorder, Hyperkinetic syndrome, Hyperkinetic syndrome NOS, MBD - Minimal brain dysfunction, Minimal brain dysfunction, Overactive child syndrome """MeSH:D001289(Attention Deficit Disorder with Hyperactivity)"", ""SnoMedCT:192134009(Hyperkinetic syndrome NOS)"", ""SnoMedCT:31177006(Attention deficit hyperactivity disorder, combined type)"", ""SnoMedCT:406506008(Attention deficit hyperactivity disorder)"", ""SnoMedCT:7461003(Attention deficit hyperactivity disorder, predominantly hyperactive impulsive type)"", ""UMLS:C1263846(C1263846)"", ""MedDRA:10001119(ADDH)"", ""NDFRT:N0000000510(Attention Deficit Disorder with Hyperactivity [Disease/Finding])"", ""MONDO:MONDO:0005302(attention deficit hyperactivity disorder, inattentive type)""" +PA166048897 Atypical behavior Behavior Disorders, Behavioral symptoms, Behavioural changes, Behavioural/Psychiatric abnormality HP:HP:0000708(Atypical behavior) +PA446175 Atypical chronic myeloid leukemia, BCR-ABL1 negative """Atypical chronic myeloid leukaemia, BCR/ABL negative"", ""Atypical chronic myeloid leukemia, BCR/ABL negative"", ""Atypical chronic myeloid leukemia, Philadelphia chromosome (Ph1) negative"", ""Leukemia, Myelogenous, Ph1 Negative"", ""Leukemia, Myelogenous, Ph1-Negative"", ""Leukemia, Myeloid, Ph1 Negative"", ""Leukemia, Myeloid, Ph1-Negative"", ""Leukemia, Myeloid, Philadelphia Negative"", ""Leukemia, Myeloid, Philadelphia-Negative"", ""Leukemia, Ph1-Negative Myelogenous"", ""Leukemia, Ph1-Negative Myeloid"", ""Leukemia, Philadelphia-Negative Myeloid"", ""Leukemias, Ph1-Negative Myelogenous"", ""Leukemias, Ph1-Negative Myeloid"", ""Leukemias, Philadelphia-Negative Myeloid"", ""Myelogenous Leukemia, Ph1 Negative"", ""Myelogenous Leukemia, Ph1-Negative"", ""Myelogenous Leukemias, Ph1-Negative"", ""Myeloid Leukemia, Ph1 Negative"", ""Myeloid Leukemia, Ph1-Negative"", ""Myeloid Leukemia, Philadelphia Negative"", ""Myeloid Leukemia, Philadelphia-Negative"", ""Myeloid Leukemias, Ph1-Negative"", ""Myeloid Leukemias, Philadelphia-Negative"", ""Ph1-Negative Myelogenous Leukemia"", ""Ph1-Negative Myelogenous Leukemias"", ""Ph1-Negative Myeloid Leukemia"", ""Ph1-Negative Myeloid Leukemias"", ""Philadelphia-Negative Myeloid Leukemia"", ""Philadelphia-Negative Myeloid Leukemias""" """MeSH:D054438(Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative)"", ""SnoMedCT:128826001(Atypical chronic myeloid leukaemia, BCR/ABL negative)"", ""UMLS:C1292772(C1292772)"", ""NDFRT:N0000181208(Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative [Disease/Finding])"", ""MONDO:MONDO:0004653(atypical chronic myeloid leukemia, BCR-ABL1 negative)""" +PA447198 Autism Asperger's Syndrome, Autism, Autistic disorder, Childhood autism, Infantile autism, Infantile autism NOS, Kanner's syndrome MeSH:D001321(Autistic Disorder), SnoMedCT:191691000(Infantile autism NOS), SnoMedCT:408856003(Autistic disorder), SnoMedCT:408857007(Infantile autism), SnoMedCT:43614003(Autistic disorder of childhood onset), UMLS:C0004352(C0004352), MedDRA:10003805(Autism), NDFRT:N0000000513(Autistic Disorder [Disease/Finding]), MONDO:MONDO:0005260(autism), HP:HP:0000717(Autism) +PA153906318 Autism Spectrum Disorder UMLS:C1510586(Autism spectrum disorder), MedDRA:10063844(Autism spectrum disorder), MONDO:MONDO:0005258(autism spectrum disorder) +PA443464 Autoimmune Diseases """Autoimmune Disease"", ""Autoimmune disease NOS"", ""Autoimmune disorder, NOS"", ""Disease, Autoimmune"", ""Diseases, Autoimmune""" MeSH:D001327(Autoimmune Diseases), SnoMedCT:191006002(Autoimmune disease NOS), SnoMedCT:85828009(Autoimmune disease), UMLS:C0004364(C0004364), MedDRA:10061664(Autoimmune disorder), NDFRT:N0000000514(Autoimmune Diseases [Disease/Finding]), MONDO:MONDO:0007179(autoimmune disease) +PA165108717 Autoimmune hemolytic anemia Autoimmune haemolytic anaemia NOS """MeSH:D000744(Anemia, Hemolytic, Autoimmune)"", ""SnoMedCT:191215000(Autoimmune hemolytic anemia NOS)"", ""UMLS:C0002880(C0002880)"", ""MedDRA:10002046(Anaemia haemolytic autoimmune)"", ""NDFRT:N0000000388(Anemia, Hemolytic, Autoimmune [Disease/Finding])"", ""MONDO:MONDO:0020108(autoimmune hemolytic anemia)""" +PA446861 Autoimmune hepatitis """Autoimmune Hepatitides"", ""Autoimmune Hepatitis"", ""Autoimmune hepatitis"", ""Hepatitides, Autoimmune""" """MeSH:D019693(Hepatitis, Autoimmune)"", ""SnoMedCT:408335007(Autoimmune hepatitis)"", ""UMLS:C0241910(C0241910)"", ""MedDRA:10003827(Autoimmune hepatitis)"", ""NDFRT:N0000003952(Hepatitis, Autoimmune [Disease/Finding])"", ""MONDO:MONDO:0016264(autoimmune hepatitis)""" +PA446409 Autoimmune polyendocrinopathy """APS"", ""Autoimmune Polyendocrinopathies"", ""Autoimmune Polyendocrinopathy"", ""Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophies"", ""Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy"", ""Autoimmune Syndrome Type I, Polyglandular"", ""Autoimmune Syndrome Type II, Polyglandular"", ""Autoimmune polyendocrinopathy"", ""Autoimmune polyendocrinopathy, NOS"", ""Autoimmune polyglandular failure"", ""Autoimmune polyglandular syndrome"", ""Lloyd's syndrome"", ""PGA"", ""Polyendocrine autoimmunity syndrome"", ""Polyendocrinopathy, Autoimmune"", ""Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophies, Autoimmune"", ""Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune"", ""Polyglandular Type I Autoimmune Syndrome"", ""Polyglandular Type II Autoimmune Syndrome"", ""Polyglandular autoimmune syndrome"", ""Polyglandular autoimmune syndrome, NOS"", ""Schmidt Syndrome"", ""Schmidt's Syndrome"", ""Schmidts Syndrome"", ""Syndrome, Schmidt's""" """MeSH:D016884(Polyendocrinopathies, Autoimmune)"", ""SnoMedCT:41864002(Autoimmune polyendocrinopathy)"", ""UMLS:C0085409(C0085409)"", ""NDFRT:N0000003500(Polyendocrinopathies, Autoimmune [Disease/Finding])"", ""MONDO:MONDO:0017278(autoimmune polyendocrinopathy)""" +PA445859 Autoimmune Thyroiditis """Autoimmune Thyroid Disease"", ""Autoimmune Thyroiditides"", ""Autoimmune Thyroiditis"", ""Autoimmune thyroiditis"", ""Autoimmune thyroiditis, NOS"", ""Chronic Thyroiditides"", ""Chronic Thyroiditis"", ""Disease, Hashimoto"", ""Disease, Hashimoto's"", ""Hashimoto Disease"", ""Hashimoto's Disease"", ""Hashimotos Disease"", ""Lymphocytic Thyroiditides"", ""Lymphocytic Thyroiditis"", ""Lymphomatous Thyroiditides"", ""Lymphomatous Thyroiditis"", ""Thyroiditides, Autoimmune"", ""Thyroiditides, Chronic"", ""Thyroiditides, Lymphocytic"", ""Thyroiditides, Lymphomatous"", ""Thyroiditis, Chronic"", ""Thyroiditis, Lymphocytic"", ""Thyroiditis, Lymphomatous""" """MeSH:D013967(Thyroiditis, Autoimmune)"", ""SnoMedCT:66944004(Autoimmune thyroiditis)"", ""UMLS:C0920350(C0920350)"", ""MedDRA:10049046(Autoimmune thyroiditis)"", ""NDFRT:N0000002945(Thyroiditis, Autoimmune [Disease/Finding])"", ""MONDO:MONDO:0005623(autoimmune thyroid disease)""" +PA443466 Autonomic Nervous System Disorder """ANS (Autonomic Nervous System) Diseases"", ""ANS Disease"", ""ANS Diseases"", ""Autonomic Central Nervous System Diseases"", ""Autonomic Disease"", ""Autonomic Diseases"", ""Autonomic Dysfunction, Segmental"", ""Autonomic Dysfunctions, Segmental"", ""Autonomic Failure, Pure"", ""Autonomic Nervous System Disorders"", ""Autonomic Peripheral Nervous System Diseases"", ""Central Autonomic Nervous System Diseases"", ""Disorder of autonomic nervous system"", ""Disorder of autonomic nervous system, NOS"", ""Disorder of vegetative system"", ""Disorder of vegetative system, NOS"", ""Disorders of autonomic nervous system"", ""Disorders of the Autonomic Nervous System"", ""Dysautonomia"", ""Dysautonomia, NOS"", ""Dysautonomias"", ""Nervous System Diseases, Autonomic"", ""Nervous System Diseases, Parasympathetic"", ""Nervous System Diseases, Sympathetic"", ""Parasympathetic Nervous System Diseases"", ""Peripheral Autonomic Nervous System Diseases"", ""Pure Autonomic Failure"", ""Pure Autonomic Failures"", ""Segmental Autonomic Dysfunction"", ""Segmental Autonomic Dysfunctions"", ""Sympathetic Nervous System Diseases"", ""autonomic nervous system dysfunction""" MeSH:D001342(Autonomic Nervous System Diseases), SnoMedCT:15241006(Disorder of autonomic nervous system), SnoMedCT:267588005(Autonomic nervous system disorder NOS), UMLS:C1145628(C1145628), MedDRA:10003839(Autonomic nervous system disorders), NDFRT:N0000000516(Autonomic Nervous System Diseases [Disease/Finding]), MONDO:MONDO:0001292(autonomic nervous system disorder) +PA165108834 Avian malaria MONDO:MONDO:0025095(malaria, avian) +PA166048755 Babesiosis NDFRT:N0000000520(Babesiosis), MONDO:MONDO:0005661(babesiosis) +PA443472 Back Pain """Ache, Back"", ""Aches, Back"", ""Back Ache"", ""Back Aches"", ""Back Pain with Radiation"", ""Back Pain without Radiation"", ""Back Pains"", ""Backache"", ""Backaches"", ""Dorsalgia"", ""Dorsodynia"", ""Notalgia"", ""Pain Syndrome, Vertebrogenic"", ""Pain Syndromes, Vertebrogenic"", ""Pain in thoracic spine"", ""Pain, Back"", ""Pains, Back"", ""Syndrome, Vertebrogenic Pain"", ""Syndromes, Vertebrogenic Pain"", ""Vertebrogenic Pain Syndrome"", ""Vertebrogenic Pain Syndromes""" """MeSH:D001416(Back Pain)"", ""SnoMedCT:161891005(Backache)"", ""SnoMedCT:161897009(Backache symptom NOS)"", ""SnoMedCT:22913005(Dorsalgia)"", ""SnoMedCT:267984001(Backache, unspecified)"", ""UMLS:C0004604(C0004604)"", ""MedDRA:10003978(Back ache)"", ""NDFRT:N0000000522(Back Pain [Disease/Finding])"", ""HP:HP:0003418(Back pain)""" +PA443474 Bacterial Infections """Bacterial Infection"", ""Bacterial diseases NOS"", ""Bacterial infection"", ""Bacterial infection, NOS"", ""Bacterial infectious disease, NOS"", ""Disease caused by bacteria"", ""Infection, Bacterial"", ""Infections, Bacterial"", ""Other bacterial diseases""" MeSH:D001424(Bacterial Infections), SnoMedCT:186335000(Other bacterial diseases), SnoMedCT:186470002(Bacterial infection NOS), SnoMedCT:186472005(Other bacterial disease NOS), SnoMedCT:266187000(Bacterial diseases NOS), SnoMedCT:301811001(Bacterial infection by site), SnoMedCT:87628006(Bacterial infectious disease), UMLS:C0004623(C0004623), MedDRA:10060945(Bacterial infection), NDFRT:N0000000524(Bacterial Infections [Disease/Finding]), MONDO:MONDO:0005113(bacterial infectious disease) +PA165108506 Bacterial vaginosis AV - Anaerobic vaginosis, BV - Bacterial vaginosis, Bacterial vaginitis, NSV - Nonspecific vaginitis, Nonspecific vaginitis """MeSH:D016585(Vaginosis, Bacterial)"", ""SnoMedCT:419760006(Bacterial vaginosis)"", ""UMLS:C0085166(C0085166)"", ""MedDRA:10004055(Bacterial vaginosis)"", ""NDFRT:N0000003443(Vaginosis, Bacterial [Disease/Finding])"", ""MONDO:MONDO:0005316(bacterial vaginosis)""" +PA166048774 Bacteroides Infections NDFRT:N0000000526(Bacteroides Infections), MONDO:MONDO:0006671(Bacteroides infectious disease) +PA165110543 Balint syndrome MONDO:MONDO:0018211(Balint syndrome) +PA447082 Bardet-Biedl Syndrome """Bardet Biedl Syndrome"", ""Biedl-Bardet syndrome"", ""Laurence Moon Bardet Biedl Syndrome"", ""Laurence-Moon-Bardet-Biedl Syndrome"", ""Syndrome, Bardet-Biedl"", ""Syndrome, Laurence-Moon-Bardet-Biedl""" MeSH:D020788(Bardet-Biedl Syndrome), SnoMedCT:5619004(Bardet-Biedl syndrome), UMLS:C0752166(C0752166), MedDRA:10048680(Bardet-Biedl syndrome), NDFRT:N0000004188(Bardet-Biedl Syndrome [Disease/Finding]), MONDO:MONDO:0015229(Bardet-Biedl syndrome) +PA166048793 Bartter Syndrome NDFRT:N0000000534(Bartter Syndrome), MONDO:MONDO:0015231(Bartter syndrome) +PA443613 Basal Cell Carcinoma """BCC - Basal cell carcinoma"", ""BCC - Basal cell carcinoma of skin"", ""Basal Cell Carcinoma"", ""Basal Cell Carcinomas"", ""Basal Cell Epithelioma"", ""Basal Cell Epitheliomas"", ""Basal cell carcinoma"", ""Basal cell carcinoma of skin"", ""Basal cell carcinoma, NOS"", ""Basal cell epithelioma"", ""Basalioma"", ""Basiloma"", ""Carcinoma, Basal Cell, Pigmented"", ""Carcinomas, Basal Cell"", ""Epithelioma, Basal Cell"", ""Epitheliomas, Basal Cell"", ""Pigmented basal cell carcinoma"", ""RU - Rodent ulcer"", ""Rodent Ulcer"", ""Rodent Ulcers"", ""Rodent ulcer"", ""Ulcer, Rodent"", ""Ulcers, Rodent""" """MeSH:D002280(Carcinoma, Basal Cell)"", ""SnoMedCT:1338007(Basal cell carcinoma)"", ""SnoMedCT:254701007(Basal cell carcinoma of skin)"", ""SnoMedCT:275265005(Epithelioma basal cell)"", ""UMLS:C0007117(C0007117)"", ""MedDRA:10004146(Basal cell carcinoma)"", ""NDFRT:N0000000667(Carcinoma, Basal Cell [Disease/Finding])"", ""MONDO:MONDO:0020804(basal cell carcinoma)"", ""HP:HP:0002671(Basal cell carcinoma)""" +PA443487 Beckwith-Wiedemann Syndrome """Beckwith Wiedemann Syndrome"", ""Beckwith-Wiedemann syndrome"", ""Exomphalos Macroglossia Gigantism Syndrome"", ""Exomphalos-Macroglossia-Gigantism Syndrome"", ""Syndrome, Beckwith-Wiedemann"", ""Syndrome, Exomphalos-Macroglossia-Gigantism"", ""Syndrome, Wiedemann-Beckwith"", ""Wiedemann Beckwith Syndrome"", ""Wiedemann-Beckwith Syndrome"", ""Wiedemann-Beckwith syndrome""" MeSH:D001506(Beckwith-Wiedemann Syndrome), SnoMedCT:81780002(Beckwith-Wiedemann syndrome), UMLS:C0004903(C0004903), MedDRA:10050344(Beckwith-Wiedemann syndrome), NDFRT:N0000000537(Beckwith-Wiedemann Syndrome [Disease/Finding]), MONDO:MONDO:0007534(Beckwith-Wiedemann syndrome) +PA166048807 Behcet Syndrome NDFRT:N0000000539(Behcet Syndrome), MONDO:MONDO:0007191(Behcet disease) +PA443490 Bernard-Soulier Syndrome """Bernard Soulier Syndrome"", ""Giant Platelet Syndrome"", ""Giant platelet syndrome"", ""Hemorrhagic dystrophic thrombocytopenia"", ""Syndrome, Bernard-Soulier"", ""Syndrome, Giant Platelet""" MeSH:D001606(Bernard-Soulier Syndrome), SnoMedCT:234478007(Giant platelet syndrome), SnoMedCT:54569005(Bernard Soulier syndrome), UMLS:C0005129(C0005129), MedDRA:10057473(Bernard-Soulier syndrome), NDFRT:N0000000541(Bernard-Soulier Syndrome [Disease/Finding]), MONDO:MONDO:0009276(Bernard-Soulier syndrome) +PA446432 Beta-thalassemia and related diseases """Anemia, Cooley"", ""Anemia, Cooley's"", ""Anemia, Cooleys"", ""Anemia, Erythroblastic"", ""Anemia, Mediterranean"", ""Anemias, Erythroblastic"", ""Beta + thalassaemia"", ""Cooley's Anemia"", ""Disease, Hemoglobin F"", ""Erythroblastic Anemia"", ""Hemoglobin F Disease"", ""Mediterranean Anemia"", ""Thalassemia Major"", ""Thalassemia Minor"", ""beta Thalassemia"", ""beta^+^ Thalassaemia"", ""beta^+^ Thalassemia"", ""beta^+^ Thalassemia, NOS""" MeSH:D017086(beta-Thalassemia), SnoMedCT:65959000(beta Thalassemia), SnoMedCT:79592006(beta^+^ Thalassemia), UMLS:C0005283(C0005283), MedDRA:10004505(Beta thalassaemia), NDFRT:N0000003523(beta-Thalassemia [Disease/Finding]), MONDO:MONDO:0017145(beta-thalassemia and related diseases), MONDO:MONDO:0019402(beta thalassemia) +PA166119021 Bilateral breast carcinoma Contralateral breast cancer, bilateral breast cancer MedDRA:10054784(Contralateral breast cancer), MONDO:MONDO:0003982(bilateral breast carcinoma) +PA443494 Bile Duct Neoplasms """Bile Duct Cancer"", ""Bile Duct Cancers"", ""Bile Duct Neoplasm"", ""Cancer of Bile Duct"", ""Cancer of the Bile Duct"", ""Cancer, Bile Duct"", ""Cancers, Bile Duct"", ""Neoplasm, Bile Duct"", ""Neoplasms, Bile Duct""" MeSH:D001650(Bile Duct Neoplasms), UMLS:C0005396(Bile Duct Neoplasms [Disease/Finding]), NDFRT:N0000000545(Bile Duct Neoplasms [Disease/Finding]), MONDO:MONDO:0021662(bile duct neoplasm) +PA165108573 Biliary tract disorders NOS MeSH:D001660(Biliary Tract Diseases), SnoMedCT:266544009(Biliary tract disorders NOS), UMLS:C0005424(C0005424), MedDRA:10004676(Biliary tract disease), NDFRT:N0000000551(Biliary Tract Diseases [Disease/Finding]), MONDO:MONDO:0004868(biliary tract disorder) +PA166128807 Biliary tract neoplasm """Biliary Tract Cancer"", ""Biliary Tract Cancers"", ""Biliary Tract Neoplasm"", ""Cancer of Biliary Tract"", ""Cancer of the Biliary Tract"", ""Cancer, Biliary Tract"", ""Cancers, Biliary Tract"", ""Neoplasm, Biliary Tract"", ""Neoplasms, Biliary Tract""" MeSH:D001661(Biliary Tract Neoplasms), MONDO:MONDO:0005304(biliary tract neoplasm), HP:HP:0100574(Biliary tract neoplasm) +PA165108929 Binge eating disorder MeSH:D052018(Bulimia Nervosa), SnoMedCT:439960005(Binge eating disorder), UMLS:C2267227(C2267227), MedDRA:10006550(Bulimia nervosa), NDFRT:N0000171706(Bulimia Nervosa [Disease/Finding]), MONDO:MONDO:0005452(bulimia nervosa), MONDO:MONDO:0005582(binge eating disorder) +PA447199 Bipolar Disorder """Bipolar disorder"", ""Bipolar disorder, NOS"", ""MDI - Manic-depressive illness"", ""Manic-depressive psychosis"", ""Unspecified bipolar affective disorder"", ""Unspecified bipolar affective disorder, unspecified""" """MeSH:D001714(Bipolar Disorder)"", ""SnoMedCT:13746004(Bipolar disorder)"", ""SnoMedCT:191646009(Unspecified bipolar affective disorder)"", ""SnoMedCT:191647000(Unspecified bipolar affective disorder, unspecified)"", ""SnoMedCT:191654006(Unspecified bipolar affective disorder, NOS)"", ""UMLS:C0005586(C0005586)"", ""MedDRA:10004908(Bipolar affective disorder)"", ""NDFRT:N0000000553(Bipolar Disorder [Disease/Finding])"", ""MONDO:MONDO:0004985(bipolar disorder)""" +PA165108131 Bladder disorders NOS MeSH:D001745(Urinary Bladder Diseases), SnoMedCT:197897007(Bladder disorders NOS), UMLS:C0005686(C0005686), MedDRA:10061011(Bladder disorder), NDFRT:N0000000560(Urinary Bladder Diseases [Disease/Finding]), MONDO:MONDO:0006026(urinary bladder disorder) +PA165108703 Bladder outlet obstruction MeSH:D001748(Urinary Bladder Neck Obstruction), SnoMedCT:416991005(Bladder outlet obstruction), UMLS:C0005694(C0005694), MedDRA:10005053(Bladder neck obstruction), NDFRT:N0000000563(Urinary Bladder Neck Obstruction [Disease/Finding]), MONDO:MONDO:0006679(bladder neck obstruction), HP:HP:0041047(Bladder outlet obstruction) +PA443514 Blast Crisis """Blast Crises"", ""Blast Phase"", ""Blast Phases"", ""Blast crisis"", ""Blast crisis stage of chronic myeloid leukaemia"", ""Blast crisis stage of chronic myeloid leukemia"", ""Blastic phase chronic myeloid leukemia"", ""Crises, Blast"", ""Crisis, Blast"", ""Phase, Blast"", ""Phases, Blast""" """MeSH:D001752(Blast Crisis)"", ""SnoMedCT:278180008(Blast crisis)"", ""SnoMedCT:413656006(Blastic phase chronic myeloid leukemia)"", ""UMLS:C0005699(C0005699)"", ""MedDRA:10053747(Blast cell crisis)"", ""NDFRT:N0000000566(Blast Crisis [Disease/Finding])"", ""MONDO:MONDO:0006115(blast phase chronic myelogenous leukemia, BCR-ABL1 positive)""" +PA165108997 Blastocystis hominis infection MeSH:D016776(Blastocystis Infections), SnoMedCT:421204004(Blastocystis hominis infection), UMLS:C0085313(C0085313), MedDRA:10005091(Blastocystis hominis infection), NDFRT:N0000003480(Blastocystis Infections [Disease/Finding]), MONDO:MONDO:0005671(Blastocystis infectious disease) +PA443517 Blepharitis Blepharitides, Eyelid inflammation, Eyelid inflammation NOS, Inflammation of eyelid, Inflammation of lid margin, Unspecified blepharitis MeSH:D001762(Blepharitis), SnoMedCT:193909003(Unspecified blepharitis), SnoMedCT:193910008(Blepharitis NOS), SnoMedCT:193925008(Eyelid inflammation NOS), SnoMedCT:41446000(Blepharitis), UMLS:C0005741(C0005741), MedDRA:10005148(Blepharitis), NDFRT:N0000000569(Blepharitis [Disease/Finding]), MONDO:MONDO:0004785(blepharitis), HP:HP:0000498(Blepharitis) +PA443519 Blepharospasm Benign essential blepharospasm, Blepharospasms MeSH:D001764(Blepharospasm), SnoMedCT:59026006(Blepharospasm), UMLS:C0005747(C0005747), MedDRA:10005159(Blepharospasm), NDFRT:N0000000571(Blepharospasm [Disease/Finding]), MONDO:MONDO:0011728(benign essential blepharospasm), HP:HP:0000643(Blepharospasm) +PA443521 Blindness """Acquired Blindness"", ""Amauroses"", ""Amaurosis"", ""Blind"", ""Blindness, Acquired"", ""Blindness, Complete"", ""Blindness, Hysterical"", ""Blindness, Legal"", ""Blindness, Monocular"", ""Blindness, Transient"", ""Complete Blindness"", ""Hysterical Blindness"", ""Legal Blindness"", ""Monocular Blindness"", ""Transient Blindness""" MeSH:D001766(Blindness), SnoMedCT:277675000(Blind), UMLS:C0456909(C0456909), MedDRA:10005161(Blind), NDFRT:N0000000573(Blindness [Disease/Finding]), MONDO:MONDO:0001941(blindness (disorder)), HP:HP:0000618(Blindness) +PA446850 Blindness, Cortical """Anton Syndrome"", ""Anton Syndromes"", ""Blindness, Cortical, Post-Ictal"", ""Blindness, Cortical, Transient"", ""Cortical Blindness"", ""Psychic Denial of Blindness"", ""Syndrome, Anton"", ""Syndromes, Anton""" """MeSH:D019575(Blindness, Cortical)"", ""SnoMedCT:68574006(Cortical blindness)"", ""UMLS:C0155320(C0155320)"", ""MedDRA:10005177(Blindness cortical)"", ""NDFRT:N0000003941(Blindness, Cortical [Disease/Finding])"", ""MONDO:MONDO:0001385(cortical blindness)""" +PA443523 Blood Coagulation Disorders """Bleeding disorder"", ""Blood Coagulation Disorder"", ""Clotting disorder"", ""Coagulation Disorder, Blood"", ""Coagulation Disorders, Blood"", ""Coagulopathy, NOS"", ""Disorder, Blood Coagulation"", ""Disorders, Blood Coagulation""" MeSH:D001778(Blood Coagulation Disorders), SnoMedCT:191303002(Coagulation defect NOS), SnoMedCT:362970003(Disorder of hemostatic system), SnoMedCT:64779008(Blood coagulation disorder), UMLS:C0005779(C0005779), MedDRA:10064732(Clotting disorder), NDFRT:N0000000575(Blood Coagulation Disorders [Disease/Finding]), MONDO:MONDO:0001531(blood coagulation disease) +PA443527 Bloom Syndrome """BS - Bloom syndrome"", ""Bloom Torre Machacek Syndrome"", ""Bloom syndrome"", ""Bloom-Torre-Machacek Syndrome"", ""Congenital telangiectatic erythema syndrome"", ""Syndrome, Bloom"", ""Syndrome, Bloom-Torre-Machacek""" MeSH:D001816(Bloom Syndrome), SnoMedCT:4434006(Bloom syndrome), UMLS:C0005859(C0005859), NDFRT:N0000000579(Bloom Syndrome [Disease/Finding]), MONDO:MONDO:0008876(Bloom syndrome) +PA443530 Body Weight Changes """Body Weight Change"", ""Change, Body Weight"", ""Changes, Body Weight"", ""Weight Change, Body"", ""Weight Changes, Body""" MeSH:D001836(Body Weight Changes), SnoMedCT:248346009(Weight change), UMLS:C0005911(C0005911), NDFRT:N0000000582(Body Weight Changes [Disease/Finding]) +PA166128365 bone density """Bone Densities"", ""Bone Mineral Content"", ""Bone Mineral Contents"", ""Bone Mineral Densities"", ""Bone Mineral Density"", ""Density, Bone"", ""Density, Bone Mineral""" MeSH:D015519(Bone Density) +PA443532 Bone Diseases """Bone Disease"", ""Bone disease"", ""Disease of bone, NOS"", ""Disease, Bone"", ""Diseases, Bone"", ""Disorder of bone, unspecified"", ""Osteopathia"", ""Osteopathy NOS"", ""Pathologic Bone Demineralization""" """MeSH:D001847(Bone Diseases)"", ""SnoMedCT:274145000(Osteopathy NOS)"", ""SnoMedCT:308147009(Disorder of bone, unspecified)"", ""SnoMedCT:76069003(Disorder of bone)"", ""UMLS:C0005940(C0005940)"", ""MedDRA:10005956(Bone disorder)"", ""NDFRT:N0000000584(Bone Diseases [Disease/Finding])"", ""MONDO:MONDO:0005381(bone disorder)""" +PA166048762 Bone Marrow Disorder NDFRT:N0000000589(Bone Marrow Diseases), MONDO:MONDO:0003225(bone marrow disorder) +PA443539 Bone Resorption """Bone Loss, Osteoclastic"", ""Bone Losses, Osteoclastic"", ""Bone Resorptions"", ""Bone resorption"", ""Bone resorption, NOS"", ""Bone resorption, function"", ""Loss, Osteoclastic Bone"", ""Losses, Osteoclastic Bone"", ""Osteoclastic Bone Loss"", ""Osteoclastic Bone Losses"", ""Resorption, Bone"", ""Resorptions, Bone""" MeSH:D001862(Bone Resorption), SnoMedCT:22200009(Bone resorption), UMLS:C0005974(C0005974), NDFRT:N0000000591(Bone Resorption [Disease/Finding]), MONDO:MONDO:0000837(bone resorption disease) +PA447200 Borderline Personality Disorder MeSH:D001883(Borderline Personality Disorder), SnoMedCT:20010003(Borderline personality disorder), UMLS:C0006012(C0006012), MedDRA:10006033(Borderline personality), NDFRT:N0000000593(Borderline Personality Disorder [Disease/Finding]), MONDO:MONDO:0001156(borderline personality disorder), HP:HP:0012076(Borderline personality disorder) +PA447131 Brachial Plexus Neuritis """Amyotrophic Neuralgia"", ""Amyotrophic Neuralgias"", ""Amyotrophies, Neuralgic"", ""Amyotrophy, Neuralgic"", ""Brachial Neuralgia"", ""Brachial Neuralgias"", ""Brachial Neuritides"", ""Brachial Neuritis"", ""Brachial Plexus Neuritides"", ""Brachial neuritis"", ""Cervico Brachial Neuralgia"", ""Cervico-Brachial Neuralgia"", ""Cervico-Brachial Neuralgias"", ""Cervicobrachial Neuralgia"", ""Cervicobrachial Neuralgias"", ""Neuralgia, Amyotrophic"", ""Neuralgia, Brachial"", ""Neuralgia, Cervico-Brachial"", ""Neuralgia, Cervicobrachial"", ""Neuralgias, Amyotrophic"", ""Neuralgias, Brachial"", ""Neuralgias, Cervico-Brachial"", ""Neuralgias, Cervicobrachial"", ""Neuralgic Amyotrophies"", ""Neuralgic Amyotrophy"", ""Neuritides, Brachial"", ""Neuritides, Brachial Plexus"", ""Neuritis, Brachial"", ""Neuritis, Brachial Plexus"", ""Neuropathies, Shoulder-Girdle"", ""Neuropathy, Shoulder-Girdle"", ""Parsonage Aldren Turner Syndrome"", ""Parsonage Turner Syndrome"", ""Parsonage-Aldren-Turner Syndrome"", ""Parsonage-Turner Syndrome"", ""Shoulder Girdle Neuropathy"", ""Shoulder-Girdle Neuropathies"", ""Shoulder-Girdle Neuropathy"", ""Syndrome, Parsonage-Aldren-Turner"", ""Syndrome, Parsonage-Turner""" MeSH:D020968(Brachial Plexus Neuritis), SnoMedCT:72893007(Brachial neuritis), UMLS:C0221759(C0221759), MedDRA:10006072(Brachial neuritis), NDFRT:N0000004238(Brachial Plexus Neuritis [Disease/Finding]), MONDO:MONDO:0006682(brachial plexus neuritis), MONDO:MONDO:0008076(amyotrophic neuralgia) +PA152530793 Brachydactyly type B MONDO:MONDO:0019676(brachydactyly type B) +PA162168980 brachyolmia Brachyolmia SnoMedCT:254088006(Brachyolmia), UMLS:C0432228(C0432228), MONDO:MONDO:0015262(brachyolmia) +PA443548 Bradycardia """Bradyarrhythmia"", ""Bradyarrhythmias"", ""Bradycardia, NOS"", ""Bradycardias"", ""Slow heart beat""" MeSH:D001919(Bradycardia), SnoMedCT:42177007(Pulse slow), SnoMedCT:48867003(Bradycardia), UMLS:C0428977(C0428977), MedDRA:10006093(Bradycardia), NDFRT:N0000000600(Bradycardia [Disease/Finding]), HP:HP:0001662(Bradycardia) +PA443553 Brain Diseases """Brain Disease"", ""Brain Disorder"", ""Brain Disorders"", ""Brain damage, NOS"", ""CNS Disorder, Intracranial"", ""CNS Disorders, Intracranial"", ""Central Nervous System Disorders, Intracranial"", ""Central Nervous System Intracranial Disorders"", ""Disease of brain, NOS"", ""Disorder of brain"", ""Encephalon Disease"", ""Encephalon Diseases"", ""Encephalopathy"", ""Intracranial CNS Disorder"", ""Intracranial CNS Disorders"", ""Intracranial Central Nervous System Disorders""" MeSH:D001927(Brain Diseases), SnoMedCT:81308009(Disorder of brain), UMLS:C0006111(C0006111), MedDRA:10006119(Brain disorder (NOS)), NDFRT:N0000000605(Brain Diseases [Disease/Finding]), MONDO:MONDO:0005560(brain disorder) +PA443555 Brain Edema """Brain Edema, Cytotoxic"", ""Brain Edema, Vasogenic"", ""Brain Swelling"", ""Brain Swellings"", ""Cerebral Edema"", ""Cerebral Edema, Cytotoxic"", ""Cerebral Edema, Vasogenic"", ""Cerebral Edemas, Vasogenic"", ""Cytotoxic Brain Edema"", ""Cytotoxic Cerebral Edema"", ""Edema, Brain"", ""Edema, Cerebral"", ""Edema, Cytotoxic Brain"", ""Edema, Cytotoxic Cerebral"", ""Edema, Intracranial"", ""Edema, Vasogenic Brain"", ""Edema, Vasogenic Cerebral"", ""Intracranial Edema"", ""Swelling, Brain"", ""Vasogenic Brain Edema"", ""Vasogenic Cerebral Edema""" MeSH:D001929(Brain Edema), UMLS:C1527311(Brain edema), MedDRA:10006121(Brain edema), NDFRT:N0000000607(Brain Edema [Disease/Finding]), MONDO:MONDO:0006684(brain edema) +PA447118 Brain hypoxia-ischemia """Anoxia Ischemia, Brain"", ""Anoxia Ischemia, Cerebral"", ""Anoxia-Ischemia, Brain"", ""Anoxia-Ischemia, Cerebral"", ""Anoxia-Ischemias, Brain"", ""Anoxia-Ischemias, Cerebral"", ""Anoxic Ischemic Brain Injury"", ""Anoxic Ischemic Encephalopathy"", ""Anoxic-Ischemic Brain Injuries"", ""Anoxic-Ischemic Brain Injury"", ""Anoxic-Ischemic Encephalopathies"", ""Anoxic-Ischemic Encephalopathy"", ""Brain Anoxia Ischemia"", ""Brain Anoxia-Ischemia"", ""Brain Anoxia-Ischemias"", ""Brain Hypoxia Ischemia"", ""Brain Hypoxia-Ischemia"", ""Brain Hypoxia-Ischemias"", ""Brain Injuries, Anoxic-Ischemic"", ""Brain Injuries, Hypoxic-Ischemic"", ""Brain Injury, Anoxic Ischemic"", ""Brain Injury, Anoxic-Ischemic"", ""Brain Injury, Hypoxic-Ischemic"", ""Brain Ischemia Anoxia"", ""Brain Ischemia Hypoxia"", ""Brain Ischemia-Anoxia"", ""Brain Ischemia-Anoxias"", ""Brain Ischemia-Hypoxia"", ""Brain Ischemia-Hypoxias"", ""Cerebral Anoxia Ischemia"", ""Cerebral Anoxia-Ischemia"", ""Cerebral Anoxia-Ischemias"", ""Cerebral Hypoxia Ischemia"", ""Cerebral Hypoxia-Ischemia"", ""Cerebral Hypoxia-Ischemias"", ""Cerebral Ischemia Anoxia"", ""Cerebral Ischemia Hypoxia"", ""Cerebral Ischemia-Anoxia"", ""Cerebral Ischemia-Anoxias"", ""Cerebral Ischemia-Hypoxia"", ""Cerebral Ischemia-Hypoxias"", ""Encephalopathies, Anoxic-Ischemic"", ""Encephalopathies, Hypoxic-Ischemic"", ""Encephalopathies, Ischemic-Hypoxic"", ""Encephalopathy, Anoxic Ischemic"", ""Encephalopathy, Anoxic-Ischemic"", ""Encephalopathy, Hypoxic Ischemic"", ""Encephalopathy, Hypoxic-Ischemic"", ""Encephalopathy, Ischemic-Hypoxic"", ""Hypoxia Ischemia, Brain"", ""Hypoxia Ischemia, Cerebral"", ""Hypoxia-Ischemia, Cerebral"", ""Hypoxia-Ischemias, Brain"", ""Hypoxia-Ischemias, Cerebral"", ""Hypoxic Ischemic Brain Injury"", ""Hypoxic Ischemic Encephalopathy"", ""Hypoxic-Ischemic Brain Injuries"", ""Hypoxic-Ischemic Brain Injury"", ""Hypoxic-Ischemic Encephalopathies"", ""Hypoxic-Ischemic Encephalopathy"", ""Injuries, Anoxic-Ischemic Brain"", ""Injuries, Hypoxic-Ischemic Brain"", ""Injury, Anoxic-Ischemic Brain"", ""Injury, Hypoxic-Ischemic Brain"", ""Ischemia Anoxia, Brain"", ""Ischemia Anoxia, Cerebral"", ""Ischemia Hypoxia, Brain"", ""Ischemia Hypoxia, Cerebral"", ""Ischemia-Anoxia, Brain"", ""Ischemia-Anoxia, Cerebral"", ""Ischemia-Anoxias, Brain"", ""Ischemia-Anoxias, Cerebral"", ""Ischemia-Hypoxia, Brain"", ""Ischemia-Hypoxia, Cerebral"", ""Ischemia-Hypoxias, Brain"", ""Ischemia-Hypoxias, Cerebral"", ""Ischemic Hypoxic Encephalopathy"", ""Ischemic-Hypoxic Encephalopathies"", ""Ischemic-Hypoxic Encephalopathy""" """MeSH:D020925(Hypoxia-Ischemia, Brain)"", ""UMLS:C0752308(Hypoxia-Ischemia, Brain [Disease/Finding])"", ""NDFRT:N0000004225(Hypoxia-Ischemia, Brain [Disease/Finding])"", ""MONDO:MONDO:0006685(brain hypoxia - ischemia)""" +PA443556 Brain Injury """Acute Brain Injuries"", ""Acute Brain Injury"", ""Brain Contusion"", ""Brain Contusions"", ""Brain Injuries, Acute"", ""Brain Injuries, Diffuse"", ""Brain Injuries, Focal"", ""Brain Injuries, Traumatic"", ""Brain Injury"", ""Brain Injury, Acute"", ""Brain Injury, Diffuse"", ""Brain Injury, Focal"", ""Brain Injury, Traumatic"", ""Brain Laceration"", ""Brain Lacerations"", ""Brain Pathology"", ""Brain Trauma"", ""Brain Traumas"", ""Brain damage"", ""Brain damage, NOS"", ""Brain injury NOS"", ""Contusion, Brain"", ""Contusion, Cortical"", ""Contusions, Brain"", ""Contusions, Cortical"", ""Cortical Contusion"", ""Cortical Contusions"", ""Diffuse Brain Injuries"", ""Diffuse Brain Injury"", ""Encephalopathies, Post-Concussive"", ""Encephalopathies, Post-Traumatic"", ""Encephalopathies, Traumatic"", ""Encephalopathy, Post Concussive"", ""Encephalopathy, Post Traumatic"", ""Encephalopathy, Post-Concussive"", ""Encephalopathy, Post-Traumatic"", ""Encephalopathy, Traumatic"", ""Focal Brain Injuries"", ""Focal Brain Injury"", ""Injuries, Acute Brain"", ""Injuries, Brain"", ""Injuries, Diffuse Brain"", ""Injuries, Focal Brain"", ""Injuries, Traumatic Brain"", ""Injury, Acute Brain"", ""Injury, Brain"", ""Injury, Brain, Traumatic"", ""Injury, Diffuse Brain"", ""Injury, Focal Brain"", ""Injury, Traumatic Brain"", ""Laceration, Brain"", ""Lacerations, Brain"", ""Pathology, Brain"", ""Post Concussive Encephalopathy"", ""Post Traumatic Encephalopathy"", ""Post-Concussive Encephalopathies"", ""Post-Concussive Encephalopathy"", ""Post-Traumatic Encephalopathies"", ""Post-Traumatic Encephalopathy"", ""TBI (Traumatic Brain Injury)"", ""TBIs (Traumatic Brain Injury)"", ""Trauma, Brain"", ""Traumas, Brain"", ""Traumatic Brain Injuries"", ""Traumatic Brain Injury"", ""Traumatic Encephalopathies"", ""Traumatic Encephalopathy""" MeSH:D001930(Brain Injuries), SnoMedCT:2470005(Brain damage), SnoMedCT:262686008(Brain injury NOS), UMLS:C0270611(C0270611), MedDRA:10056389(Brain damage), NDFRT:N0000000608(Brain Injuries [Disease/Finding]), MONDO:MONDO:0043510(brain injury) +PA443671 Brain Ischemia """Brain Injuries, Ischemic"", ""Brain Injury, Ischemic"", ""Brain Ischemias"", ""Cerebral Ischemia"", ""Cerebral Ischemias"", ""Encephalopathy, Ischemic"", ""Injury, Ischemic Brain"", ""Ischaemic encephalopathy"", ""Ischemia, Brain"", ""Ischemia, Cerebral"", ""Ischemias, Cerebral"", ""Ischemic Brain Injuries"", ""Ischemic Brain Injury"", ""Ischemic Encephalopathies"", ""Ischemic Encephalopathy"", ""Ischemic encephalopathy""" MeSH:D002545(Brain Ischemia), SnoMedCT:389100007(Ischemic encephalopathy), UMLS:C0007786(C0007786), NDFRT:N0000000723(Brain Ischemia [Disease/Finding]), MONDO:MONDO:0005299(brain ischemia) +PA443557 Brain Neoplasms """Benign Brain Neoplasm"", ""Benign Brain Neoplasms"", ""Benign Neoplasm, Brain"", ""Benign Neoplasms, Brain"", ""Brain Benign Neoplasm"", ""Brain Benign Neoplasms"", ""Brain Cancer"", ""Brain Cancers"", ""Brain Malignant Neoplasm"", ""Brain Malignant Neoplasms"", ""Brain Neoplasm"", ""Brain Neoplasm, Benign"", ""Brain Neoplasm, Malignant"", ""Brain Neoplasm, Primary"", ""Brain Neoplasms, Benign"", ""Brain Neoplasms, Malignant"", ""Brain Neoplasms, Malignant, Primary"", ""Brain Neoplasms, Primary"", ""Brain Neoplasms, Primary Malignant"", ""Brain Tumor"", ""Brain Tumor, Primary"", ""Brain Tumor, Recurrent"", ""Brain Tumors"", ""Brain Tumors, Primary"", ""Brain Tumors, Recurrent"", ""Cancer of Brain"", ""Cancer of the Brain"", ""Cancer, Brain"", ""Cancers, Brain"", ""Intracranial Neoplasm"", ""Intracranial Neoplasms"", ""Malignant Brain Neoplasm"", ""Malignant Brain Neoplasms"", ""Malignant Neoplasm, Brain"", ""Malignant Neoplasms, Brain"", ""Malignant Primary Brain Neoplasms"", ""Malignant Primary Brain Tumors"", ""Neoplasm of brain"", ""Neoplasm, Brain"", ""Neoplasm, Intracranial"", ""Neoplasms, Brain"", ""Neoplasms, Brain, Benign"", ""Neoplasms, Brain, Malignant"", ""Neoplasms, Brain, Primary"", ""Neoplasms, Intracranial"", ""Primary Brain Neoplasm"", ""Primary Brain Neoplasms"", ""Primary Brain Tumor"", ""Primary Brain Tumors"", ""Primary Malignant Brain Neoplasms"", ""Primary Malignant Brain Tumors"", ""Recurrent Brain Tumor"", ""Recurrent Brain Tumors"", ""Tumor, Brain"", ""Tumors, Brain""" MeSH:D001932(Brain Neoplasms), SnoMedCT:126952004(Neoplasm of brain), SnoMedCT:189537005(Neoplasm of unspecified nature of brain), UMLS:C0006118(C0006118), MedDRA:10061019(Brain neoplasm), NDFRT:N0000000609(Brain Neoplasms [Disease/Finding]), MONDO:MONDO:0001657(brain cancer) +PA443560 Breast Neoplasms """Breast Cancer"", ""Breast Cancers"", ""Breast Neoplasm"", ""Breast tumour"", ""Cancer of Breast"", ""Cancer of the Breast"", ""Cancer, Breast"", ""Cancers, Breast"", ""Neoplasm of breast"", ""Neoplasm, Breast"", ""Neoplasms, Breast"", ""Tumor of breast"", ""Tumour of breast""" MeSH:D001943(Breast Neoplasms), SnoMedCT:126926005(Neoplasm of breast), UMLS:C1458155(C1458155), MedDRA:10006279(Breast neoplasm), NDFRT:N0000000612(Breast Neoplasms [Disease/Finding]), MONDO:MONDO:0021100(breast neoplasm) +PA446745 Breast Neoplasms, Male """Breast Cancer, Male"", ""Breast Cancers, Male"", ""Breast Neoplasm, Male"", ""Cancer, Male Breast"", ""Cancers, Male Breast"", ""Male Breast Cancer"", ""Male Breast Cancers"", ""Male Breast Neoplasm"", ""Male Breast Neoplasms"", ""Neoplasm of male breast"", ""Neoplasm, Male Breast"", ""Neoplasms, Breast, Male"", ""Neoplasms, Male Breast""" """MeSH:D018567(Breast Neoplasms, Male)"", ""SnoMedCT:126937006(Neoplasm of male breast)"", ""UMLS:C0242788(C0242788)"", ""MedDRA:10006282(Breast neoplasm male)"", ""NDFRT:N0000003834(Breast Neoplasms, Male [Disease/Finding])"", ""MONDO:MONDO:0005628(male breast carcinoma)""" +PA166159453 Breast tenderness Breast pain, Breast tenderness, Painful breast, mastalgia SnoMedCT:55222007(Breast tenderness), MedDRA:10006313(Breast tenderness) +PA162372748 Brittle Cornea Syndrome MONDO:MONDO:0009242(brittle cornea syndrome) +PA443562 Bronchial Diseases """Bronchial Disease"", ""Disease of bronchus"", ""Disease of bronchus, NOS"", ""Disease, Bronchial"", ""Diseases, Bronchial"", ""Disorder of bronchus""" MeSH:D001982(Bronchial Diseases), SnoMedCT:41427001(Disorder of bronchus), UMLS:C0006261(C0006261), MedDRA:10064913(Bronchial disorder), NDFRT:N0000000614(Bronchial Diseases [Disease/Finding]), MONDO:MONDO:0001358(bronchial disorder) +PA446342 Bronchial Hyperreactivity """Bronchial Hyperreactivities"", ""Hyperreactivities, Bronchial"", ""Hyperreactivity, Bronchial""" MeSH:D016535(Bronchial Hyperreactivity), UMLS:C0085129(Bronchial hyperreactivity), MedDRA:10066091(Bronchial hyperreactivity), NDFRT:N0000003431(Bronchial Hyperreactivity [Disease/Finding]), MONDO:MONDO:0004979(asthma) +PA443566 Bronchiectasis """Bronchiectases"", ""Bronchiectasis NOS"", ""Bronchiectasis, NOS""" MeSH:D001987(Bronchiectasis), SnoMedCT:12295008(Bronchiectasis), SnoMedCT:195986009(Bronchiectasis NOS), UMLS:C0006267(C0006267), MedDRA:10006445(Bronchiectasis), NDFRT:N0000000618(Bronchiectasis [Disease/Finding]), MONDO:MONDO:0004822(bronchiectasis), HP:HP:0002110(Bronchiectasis) +PA443570 Bronchitis Bronchitides, Bronchitis unspecified MeSH:D001991(Bronchitis), SnoMedCT:195940007(Bronchitis NOS), SnoMedCT:266354009(Bronchitis unspecified), SnoMedCT:32398004(Bronchitis), UMLS:C0006277(C0006277), MedDRA:10006451(Bronchitis), NDFRT:N0000000622(Bronchitis [Disease/Finding]), MONDO:MONDO:0003781(bronchitis), HP:HP:0012387(Bronchitis) +PA447180 Bronchitis, Chronic Chronic Bronchitis """MeSH:D029481(Bronchitis, Chronic)"", ""SnoMedCT:195956002(Chronic bronchitis NOS)"", ""SnoMedCT:63480004(Chronic bronchitis)"", ""UMLS:C0008677(C0008677)"", ""MedDRA:10006458(Bronchitis chronic)"", ""NDFRT:N0000010959(Bronchitis, Chronic [Disease/Finding])"", ""MONDO:MONDO:0005607(chronic bronchitis)"", ""HP:HP:0004469(Chronic bronchitis)""" +PA443616 Bronchogenic Carcinoma """Bronchial Carcinoma"", ""Bronchial Carcinomas"", ""Bronchogenic Carcinoma"", ""Bronchogenic Carcinomas"", ""Carcinoma, Bronchial"", ""Carcinomas, Bronchial"", ""Carcinomas, Bronchogenic""" """MeSH:D002283(Carcinoma, Bronchogenic)"", ""UMLS:C0007121(Carcinoma, Bronchogenic [Disease/Finding])"", ""NDFRT:N0000000670(Carcinoma, Bronchogenic [Disease/Finding])"", ""MONDO:MONDO:0002806(bronchogenic carcinoma)""" +PA165109162 Bronchopulmonary dysplasia BPD - Bronchopulmonary dysplasia, Bronchopulmonary dysplasia of newborn, Chronic lung disease of prematurity MeSH:D001997(Bronchopulmonary Dysplasia), SnoMedCT:67569000(Bronchopulmonary dysplasia of newborn), UMLS:C0006287(C0006287), MedDRA:10006475(Bronchopulmonary dysplasia), NDFRT:N0000000625(Bronchopulmonary Dysplasia [Disease/Finding]), MONDO:MONDO:0019091(bronchopulmonary dysplasia) +PA443575 Brucellosis """Brucelloses"", ""Brucellosis, NOS"", ""Cyprus fever"", ""Fever, Malta"", ""Fever, Undulant"", ""Fevers, Undulant"", ""Malta Fever"", ""Malta fever"", ""Mediterranean fever"", ""Undulant Fever"", ""Undulant Fevers"", ""Undulant fever""" MeSH:D002006(Brucellosis), SnoMedCT:186310006(Brucellosis NOS), SnoMedCT:75702008(Brucellosis), UMLS:C0006309(C0006309), MedDRA:10006495(Brucella infections), NDFRT:N0000000627(Brucellosis [Disease/Finding]), MONDO:MONDO:0005683(brucellosis) +PA159018367 Brugada syndrome MeSH:D053840(Brugada Syndrome), SnoMedCT:418818005(Brugada syndrome), UMLS:C1142166(C1142166), MedDRA:10059027(Brugada syndrome), NDFRT:N0000181195(Brugada Syndrome [Disease/Finding]), MONDO:MONDO:0015263(Brugada syndrome) +PA447201 Bulimia nervosa MeSH:D002032(Bulimia), UMLS:C0006370(Bulimia), MedDRA:10006549(Bulimia), NDFRT:N0000000630(Bulimia [Disease/Finding]), MONDO:MONDO:0005452(bulimia nervosa), MONDO:MONDO:0005582(binge eating disorder) +PA445272 Bullous Pemphigoid """Benign pemphigus, NOS"", ""Bullous Pemphigoid"", ""Bullous pemphigoid"", ""Pemphigoid"", ""Pemphigoid NOS"", ""Pemphigoids""" """MeSH:D010391(Pemphigoid, Bullous)"", ""SnoMedCT:200912002(Pemphigoid NOS)"", ""SnoMedCT:77090002(Bullous pemphigoid)"", ""SnoMedCT:86142006(Pemphigoid)"", ""UMLS:C0030805(C0030805)"", ""MedDRA:10006567(Bullous pemphigoid)"", ""NDFRT:N0000002346(Pemphigoid, Bullous [Disease/Finding])"", ""MONDO:MONDO:0019082(bullous pemphigoid)""" +PA443578 Bundle-Branch Block """Block, Bundle-Branch"", ""Block, Fascicular"", ""Blocks, Bundle-Branch"", ""Blocks, Fascicular"", ""Bundle Branch Block"", ""Bundle branch block unspecified"", ""Bundle-Branch Blocks"", ""Fascicular Block"", ""Fascicular Blocks""" HP:HP:0011710(Bundle branch block) +PA443580 Burkitt Lymphoma """Acute lymphoblastic leukaemia, Burkitt's type"", ""Acute lymphoblastic leukaemia, mature B-cell type"", ""Acute lymphoblastic leukemia, Burkitt's type"", ""Acute lymphoblastic leukemia, mature B-cell type"", ""African Lymphoma"", ""BL - Burkitt's lymphoma"", ""Burkitt Tumor"", ""Burkitt cell leukaemia"", ""Burkitt cell leukemia"", ""Burkitt lymphoma/leukaemia"", ""Burkitt lymphoma/leukemia"", ""Burkitt's Lymphoma"", ""Burkitt's Tumor"", ""Burkitt's cell leukaemia"", ""Burkitt's cell leukemia"", ""Burkitt's lymphoma"", ""Burkitt's lymphoma (clinical)"", ""Burkitt's lymphoma - disorder"", ""Burkitt's lymphoma NOS"", ""Burkitt's tumor"", ""Burkitt's tumor [obs]"", ""Burkitt's tumour"", ""Burkitt's type malignant lymphoma - small non-cleaved"", ""Burkitt's type malignant lymphoma - undifferentiated"", ""Burkitts Lymphoma"", ""Burkitts Tumor"", ""FAB L3 [obs]"", ""Lymphoma, African"", ""Lymphoma, Burkitt"", ""Lymphoma, Burkitt's"", ""Tumor, Burkitt"", ""Tumor, Burkitt's"", ""[M]Burkitt's tumour""" MeSH:D002051(Burkitt Lymphoma), SnoMedCT:118617000(Burkitt's lymphoma (clinical)), SnoMedCT:188509006(Burkitt's lymphoma of unspecified site), SnoMedCT:188518008(Burkitt's lymphoma NOS), SnoMedCT:22197008(Burkitt cell leukaemia), SnoMedCT:397400006(Burkitt lymphoma/leukaemia), SnoMedCT:77381001(Burkitt lymphoma), UMLS:C0006413(C0006413), MedDRA:10067184(Burkitt's leukaemia), NDFRT:N0000000633(Burkitt Lymphoma [Disease/Finding]), MONDO:MONDO:0007243(Burkitt lymphoma), HP:HP:0030080(Burkitt lymphoma) +PA443582 Burns """Burn"", ""Burn - unspecified"", ""Burn injury"", ""Burn injury, NOS"", ""Burn, NOS"", ""Thermal burn""" MeSH:D002056(Burns), SnoMedCT:125666000(Burn), SnoMedCT:212129000(Burn - unspecified), SnoMedCT:212139006(Burns NOS), SnoMedCT:48333001(Burn injury), UMLS:C0006434(C0006434), MedDRA:10006634(Burn), NDFRT:N0000000635(Burns [Disease/Finding]), MONDO:MONDO:0043519(burn) +PA166122649 Butyrylcholinesterase deficiency Postanaesthesia apnoea, Postanesthesia apnea (finding) MeSH:C537417(Butyrylcholinesterase deficiency), SnoMedCT:111968005(Postanesthesia apnea), MONDO:MONDO:0015270(butyrylcholinesterase deficiency) +PA443588 Cachexia Cachectic, General body deterioration, [D]Cachexia MeSH:D002100(Cachexia), SnoMedCT:207558009([D]Cachexia), SnoMedCT:238108007(Cachexia), UMLS:C0006625(C0006625), MedDRA:10006895(Cachexia), NDFRT:N0000000641(Cachexia [Disease/Finding]), HP:HP:0004326(Cachexia) +PA166048786 Cadmium Poisoning NDFRT:N0000000643(Cadmium Poisoning), MONDO:MONDO:0043523(cadmium poisoning) +PA166318421 Caesarian section Abdominal Deliveries, c-section, cesarian section, surgical birth, surgical delivery MeSH:D002585(Cesarean Section), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA443597 Candidiasis """Candidiases"", ""Candidiasis NOS"", ""Candidiasis, NOS"", ""Candidosis"", ""Candidosis, NOS"", ""Monilia infection"", ""Moniliases"", ""Moniliasis"", ""Thrush""" MeSH:D002177(Candidiasis), SnoMedCT:187024008(Candidiasis NOS), SnoMedCT:78048006(Candidiasis), UMLS:C0006840(C0006840), MedDRA:10007134(Candida infections), NDFRT:N0000000650(Candidiasis [Disease/Finding]), MONDO:MONDO:0002026(candidiasis) +PA443598 Candidiasis, Chronic Mucocutaneous """CMC - Chronic mucocutaneous candidiasis"", ""Candidiases, Chronic Mucocutaneous"", ""Chronic Mucocutaneous Candidiases"", ""Chronic Mucocutaneous Candidiasis"", ""Chronic mucocutaneous candidiasis"", ""Mucocutaneous Candidiases, Chronic"", ""Mucocutaneous Candidiasis, Chronic""" MONDO:MONDO:0015279(chronic mucocutaneous candidiasis), HP:HP:0002728(Chronic mucocutaneous candidiasis) +PA443599 Candidiasis, Cutaneous """Candidiases, Cutaneous"", ""Cutaneous Candidiases"", ""Cutaneous Candidiasis"", ""Cutaneous Moniliases"", ""Cutaneous Moniliasis"", ""Moniliases, Cutaneous"", ""Moniliasis, Cutaneous""" MONDO:MONDO:0000879(cutaneous candidiasis) +PA443600 Candidiasis, Oral """Candidiases, Oral"", ""Moniliases, Oral"", ""Moniliasis, Oral"", ""Mycotic stomatitis"", ""Oral Candidiases"", ""Oral Candidiasis"", ""Oral Moniliases"", ""Oral Moniliasis"", ""Oral moniliasis"", ""Thrush""" MONDO:MONDO:0005886(oral candidiasis) +PA166048803 Carbon Monoxide Poisoning NDFRT:N0000000659(Carbon Monoxide Poisoning), MONDO:MONDO:0800373(carbon monoxide poisoning) +PA443609 Carcinoid Tumor """Argentaffinoma"", ""Argentaffinomas"", ""Carcinoid"", ""Carcinoid Tumors"", ""Carcinoid tumor"", ""Carcinoid tumor - morphology"", ""Carcinoid tumour"", ""Carcinoid tumour - morphology"", ""Carcinoid, Goblet Cell"", ""Carcinoids"", ""Carcinoids, Goblet Cell"", ""Goblet Cell Carcinoid"", ""Goblet Cell Carcinoids"", ""Tumor, Carcinoid"", ""Tumors, Carcinoid"", ""[M]Carcinoid tumors"", ""[M]Carcinoid tumours""" MeSH:D002276(Carcinoid Tumor), SnoMedCT:189607006(Carcinoid tumour - morphology), UMLS:C0007095(C0007095), MedDRA:10007271(Carcinoid tumor), NDFRT:N0000000663(Carcinoid Tumor [Disease/Finding]), MONDO:MONDO:0005369(carcinoid tumor), HP:HP:0100570(Carcinoid tumor) +PA443610 Carcinoma """Anaplastic Carcinoma"", ""Anaplastic Carcinomas"", ""Carcinoma, Anaplastic"", ""Carcinoma, NOS"", ""Carcinoma, Spindle Cell"", ""Carcinoma, Spindle-Cell"", ""Carcinoma, Undifferentiated"", ""Carcinomas"", ""Carcinomas, Anaplastic"", ""Carcinomas, Spindle-Cell"", ""Carcinomas, Undifferentiated"", ""Carcinomatoses"", ""Carcinomatosis"", ""Epithelial Neoplasm, Malignant"", ""Epithelial Neoplasms, Malignant"", ""Epithelial Tumor, Malignant"", ""Epithelial Tumors, Malignant"", ""Epithelial tumour, malignant"", ""Epithelioma"", ""Epitheliomas"", ""Malignant Epithelial Neoplasm"", ""Malignant Epithelial Neoplasms"", ""Malignant Epithelial Tumor"", ""Malignant Epithelial Tumors"", ""Neoplasm, Malignant Epithelial"", ""Neoplasms, Malignant Epithelial"", ""Spindle-Cell Carcinoma"", ""Spindle-Cell Carcinomas"", ""Tumor, Malignant Epithelial"", ""Tumors, Malignant Epithelial"", ""Undifferentiated Carcinoma"", ""Undifferentiated Carcinomas""" """MeSH:D002277(Carcinoma)"", ""SnoMedCT:68453008(Carcinoma, no subtype)"", ""UMLS:C0007097(C0007097)"", ""MedDRA:10007284(Carcinoma)"", ""NDFRT:N0000000664(Carcinoma [Disease/Finding])"", ""MONDO:MONDO:0004993(carcinoma)"", ""HP:HP:0030731(Carcinoma)""" +PA446660 Carcinoma, Large Cell """Carcinomas, Large Cell"", ""Cell Carcinoma, Large"", ""Cell Carcinomas, Large"", ""Large Cell Carcinoma"", ""Large Cell Carcinomas"", ""Large cell carcinoma"", ""Large cell carcinoma, NOS""" """MeSH:D018287(Carcinoma, Large Cell)"", ""SnoMedCT:22687000(Large cell carcinoma)"", ""UMLS:C0206704(C0206704)"", ""NDFRT:N0000003751(Carcinoma, Large Cell [Disease/Finding])"", ""MONDO:MONDO:0005232(large cell carcinoma)""" +PA446649 Carcinoma, Medullary """Carcinomas, Medullary"", ""Medullary Carcinoma"", ""Medullary Carcinomas"", ""Medullary adenocarcinoma"", ""Medullary carcinoma"", ""Ultimobranchial thyroid tumor""" """MeSH:D018276(Carcinoma, Medullary)"", ""SnoMedCT:32913002(Medullary carcinoma)"", ""UMLS:C0206693(C0206693)"", ""NDFRT:N0000003740(Carcinoma, Medullary [Disease/Finding])"", ""MONDO:MONDO:0015277(medullary thyroid gland carcinoma)""" +PA165108478 Carcinoma of endocrine pancreas Endocrine pancreatic carcinoma """MeSH:D018273(Carcinoma, Islet Cell)"", ""SnoMedCT:254612002(Carcinoma of endocrine pancreas)"", ""UMLS:C1328479(C1328479)"", ""MedDRA:10025997(Malignant neoplasm of islets of Langerhans)"", ""NDFRT:N0000003738(Carcinoma, Islet Cell [Disease/Finding])"", ""MONDO:MONDO:0005893(pancreatic endocrine carcinoma)""" +PA447138 Carcinoma, Pancreatic Ductal """Carcinoma, Pancreas Duct-Cell"", ""Carcinomas, Pancreas Duct-Cell"", ""Carcinomas, Pancreatic Ductal"", ""Duct Cell Carcinoma of the Pancreas"", ""Duct Cell Carcinoma, Pancreas"", ""Duct-Cell Carcinoma of the Pancreas"", ""Duct-Cell Carcinoma, Pancreas"", ""Duct-Cell Carcinomas, Pancreas"", ""Ductal Carcinoma of the Pancreas"", ""Ductal Carcinoma, Pancreatic"", ""Ductal Carcinomas, Pancreatic"", ""Pancreas Duct-Cell Carcinoma"", ""Pancreas Duct-Cell Carcinomas"", ""Pancreatic Duct Cell Carcinoma"", ""Pancreatic Ductal Carcinoma"", ""Pancreatic Ductal Carcinomas""" """MeSH:D021441(Carcinoma, Pancreatic Ductal)"", ""UMLS:C0887833(Carcinoma, Pancreatic Ductal [Disease/Finding])"", ""NDFRT:N0000004241(Carcinoma, Pancreatic Ductal [Disease/Finding])"", ""MONDO:MONDO:0005184(pancreatic ductal adenocarcinoma)""" +PA443626 Carcinoma, Squamous Cell """Carcinoma, Epidermoid"", ""Carcinoma, Planocellular"", ""Carcinoma, Squamous"", ""Carcinomas, Epidermoid"", ""Carcinomas, Planocellular"", ""Carcinomas, Squamous"", ""Carcinomas, Squamous Cell"", ""Epidermoid Carcinoma"", ""Epidermoid Carcinomas"", ""Epidermoid carcinoma"", ""Epidermoid carcinoma, NOS"", ""Planocellular Carcinoma"", ""Planocellular Carcinomas"", ""SCC - Squamous cell carcinoma"", ""Squamous Carcinoma"", ""Squamous Carcinomas"", ""Squamous Cell Carcinoma"", ""Squamous Cell Carcinomas"", ""Squamous carcinoma"", ""Squamous cell carcinoma"", ""Squamous cell carcinoma, NOS"", ""Squamous cell carcinoma, no ICD-O subtype"", ""Squamous cell epithelioma""" """MeSH:D002294(Carcinoma, Squamous Cell)"", ""SnoMedCT:28899001(Squamous cell carcinoma)"", ""SnoMedCT:402815007(Squamous cell carcinoma)"", ""UMLS:C0007137(C0007137)"", ""MedDRA:10007349(Carcinoma epidermoid)"", ""NDFRT:N0000000680(Carcinoma, Squamous Cell [Disease/Finding])"", ""MONDO:MONDO:0005096(squamous cell carcinoma)"", ""HP:HP:0002860(Squamous cell carcinoma)""" +PA444365 Cardiac Arrest """Arrest, Cardiac"", ""Arrest, Cardiopulmonary"", ""Arrest, Heart"", ""Asystole"", ""Asystoles"", ""Cardiac Arrest"", ""Cardiac arrest"", ""Cardiac standstill"", ""Cardiopulmonary Arrest""" """MeSH:D006323(Heart Arrest)"", ""SnoMedCT:309810002(Cardiac arrest, unspecified)"", ""SnoMedCT:397829000(Asystole)"", ""SnoMedCT:410429000(Cardiac arrest)"", ""UMLS:C0018790(C0018790)"", ""MedDRA:10003109(Arrest cardiac)"", ""NDFRT:N0000001429(Heart Arrest [Disease/Finding])"", ""MONDO:MONDO:0000745(cardiac arrest)"", ""HP:HP:0001695(Cardiac arrest)""" +PA443421 Cardiac rhythm disease """Arrhythmia"", ""Arrhythmias"", ""Arrhythmias, Cardiac"", ""Arrythmia"", ""Cardiac dysrhythmia NOS"", ""Proarrhythmia"", ""Ventricular Flutter"", ""Ventricular flutter"", ""cardiac arrhythmia""" """MeSH:D001145(Arrhythmias, Cardiac)"", ""SnoMedCT:195107004(Cardiac dysrhythmia NOS)"", ""UMLS:C0003811(C0003811)"", ""MedDRA:10003119(Arrhythmia)"", ""NDFRT:N0000000469(Arrhythmias, Cardiac [Disease/Finding])"", ""MONDO:MONDO:0007263(cardiac rhythm disease)""" +PA165109181 Cardiac tamponade Pericardial tamponade MONDO:MONDO:0001297(cardiac tamponade), HP:HP:0033415(Cardiac tamponade) +PA152208657 Cardio-facio-cutaneous Syndrome Cardio-facio-cutaneous syndrome SnoMedCT:403770008(Cardio-facio-cutaneous syndrome), UMLS:C1275081(C1275081), MONDO:MONDO:0015280(cardiofaciocutaneous syndrome) +PA445018 Cardiomyopathies """Cardiomyopathies"", ""Cardiomyopathy"", ""Cardiomyopathy NOS"", ""Danon disease"", ""Disease, Myocardial"", ""Disease, Primary Myocardial"", ""Disease, Secondary Myocardial"", ""Diseases, Myocardial"", ""Diseases, Primary Myocardial"", ""Diseases, Secondary Myocardial"", ""Disorder of heart muscle"", ""Glycogen Storage Disease Type IIb"", ""Myocardial Disease"", ""Myocardial Disease, Primary"", ""Myocardial Disease, Secondary"", ""Myocardial Diseases"", ""Myocardial Diseases, Primary"", ""Myocardial Diseases, Secondary"", ""Myocardiopathies"", ""Myocardiopathy"", ""Myocardiopathy, NOS"", ""Primary Myocardial Disease"", ""Primary Myocardial Diseases"", ""Secondary Myocardial Disease"", ""Secondary Myocardial Diseases""" MeSH:D009202(Cardiomyopathies), SnoMedCT:195037005(Cardiomyopathy NOS), SnoMedCT:57809008(Myocardial disease), SnoMedCT:85898001(Cardiomyopathy), UMLS:C0878544(C0878544), MedDRA:10007635(Cardiomyopathies), NDFRT:N0000011137(Cardiomyopathies [Disease/Finding]), MONDO:MONDO:0004994(cardiomyopathy) +PA443632 Cardiomyopathy, Dilated """CCM - Congestive cardiomyopathy"", ""COCM - Congestive cardiomyopathy"", ""Cardiomyopathies, Congestive"", ""Cardiomyopathies, Dilated"", ""Cardiomyopathy, Congestive"", ""Cardiomyopathy, Dilated"", ""Congestive Cardiomyopathies"", ""Congestive Cardiomyopathy"", ""Congestive cardiomyopathy"", ""Congestive dilated cardiomyopathy"", ""DCM - Dilated cardiomyopathy"", ""Dilated Cardiomyopathies"", ""Dilated Cardiomyopathy"", ""Dilated cardiomyopathy""" """MeSH:D002311(Cardiomyopathy, Dilated)"", ""SnoMedCT:195021004(Primary dilated cardiomyopathy)"", ""SnoMedCT:399020009(Congestive cardiomyopathy)"", ""UMLS:C0007193(C0007193)"", ""MedDRA:10009836(COCM Congestive (dilated) cardiomyopathy)"", ""NDFRT:N0000000686(Cardiomyopathy, Dilated [Disease/Finding])"", ""MONDO:MONDO:0005021(dilated cardiomyopathy)"", ""HP:HP:0001644(Dilated cardiomyopathy)""" +PA166128121 Cardiotoxicity """Cardiac Toxicities"", ""Cardiac Toxicity"", ""Cardiac dysfunction post-treatment"", ""Cardiotoxicities"", ""Toxicities, Cardiac"", ""Toxicity, Cardiac""" MeSH:D066126(Cardiotoxicity), MedDRA:10048610(cardiotoxicity) +PA443635 Cardiovascular Disease """CVD"", ""Cardiovascular Disease"", ""Cardiovascular disorder"", ""Cardiovascular system disease"", ""Disease of cardiovascular system"", ""Disease, Cardiovascular"", ""Diseases, Cardiovascular""" """MeSH:D002318(Cardiovascular Diseases)"", ""SnoMedCT:105980002(Disease affecting entire cardiovascular system)"", ""SnoMedCT:49601007(Disorder of cardiovascular system)"", ""UMLS:C0007222(C0007222)"", ""MedDRA:10007648(Cardiovascular disease, unspecified)"", ""NDFRT:N0000000689(Cardiovascular Diseases [Disease/Finding])"", ""MONDO:MONDO:0004995(cardiovascular disorder)""" +PA443636 Carotid Artery Diseases """Arterial Disease, Carotid"", ""Arterial Diseases, Carotid"", ""Arterial Diseases, Common Carotid"", ""Arterial Diseases, External Carotid"", ""Arterial Diseases, Internal Carotid"", ""Artery Disease, Carotid"", ""Artery Diseases, Carotid"", ""Artery Disorder, Carotid"", ""Artery Disorders, Carotid"", ""Atherosclerotic Disease, Carotid"", ""Atherosclerotic Diseases, Carotid"", ""Carotid Arterial Disease"", ""Carotid Arterial Diseases"", ""Carotid Artery Disease"", ""Carotid Artery Disorder"", ""Carotid Artery Disorders"", ""Carotid Atheroscleroses"", ""Carotid Atherosclerosis"", ""Carotid Atherosclerotic Disease"", ""Carotid Atherosclerotic Diseases"", ""Carotid artery disease"", ""Common Carotid Artery Diseases"", ""Disease of carotid artery"", ""Disorders, Carotid Artery"", ""External Carotid Artery Diseases"", ""Internal Carotid Artery Diseases""" MeSH:D002340(Carotid Artery Diseases), SnoMedCT:371160000(Disorder of carotid artery), UMLS:C0007273(C0007273), MedDRA:10061744(Carotid artery disease), NDFRT:N0000000690(Carotid Artery Diseases [Disease/Finding]), MONDO:MONDO:0005269(carotid artery disorder) +PA446414 Carotid Stenosis """Artery Narrowing, Carotid"", ""Artery Narrowings, Carotid"", ""Artery Plaque, Carotid"", ""Artery Plaques, Carotid"", ""Artery Stenoses, Carotid"", ""Artery Stenosis, Carotid"", ""Carotid Artery Narrowing"", ""Carotid Artery Narrowings"", ""Carotid Artery Plaque"", ""Carotid Artery Plaques"", ""Carotid Artery Stenoses"", ""Carotid Artery Stenosis"", ""Carotid Artery Ulcerating Plaque"", ""Carotid Stenoses"", ""Carotid Ulcer"", ""Carotid Ulcers"", ""Carotid artery stenosis"", ""Common Carotid Artery Stenosis"", ""External Carotid Artery Stenosis"", ""Internal Carotid Artery Stenosis"", ""Narrowing, Carotid Artery"", ""Narrowings, Carotid Artery"", ""Plaque, Carotid Artery"", ""Plaque, Ulcerating, Carotid Artery"", ""Plaques, Carotid Artery"", ""Stenoses, Carotid"", ""Stenoses, Carotid Artery"", ""Stenosis, Carotid"", ""Stenosis, Carotid Artery"", ""Stenosis, Common Carotid Artery"", ""Stenosis, External Carotid Artery"", ""Ulcer, Carotid"", ""Ulcerating Plaque, Carotid Artery"", ""Ulcers, Carotid""" MeSH:D016893(Carotid Stenosis), SnoMedCT:64586002(Carotid artery stenosis), UMLS:C0007282(C0007282), MedDRA:10007687(Carotid artery stenosis), NDFRT:N0000003505(Carotid Stenosis [Disease/Finding]), MONDO:MONDO:0001612(carotid stenosis) +PA443645 Cataract """Cat. - Cataract"", ""Cataract (M-54510)"", ""Cataract NOS"", ""Cataract, Membranous"", ""Cataracts"", ""Cataracts, Membranous"", ""Lens Opacities"", ""Lens Opacity"", ""Lens opacity"", ""Membranous Cataract"", ""Membranous Cataracts"", ""Opacities, Lens"", ""Opacity, Lens"", ""Pseudoaphakia"", ""Pseudoaphakias""" MeSH:D002386(Cataract), SnoMedCT:128306009(Cataract), SnoMedCT:193570009(Cataract), SnoMedCT:193623003(Cataract NOS), SnoMedCT:247053007(Cataract form), UMLS:C0086543(C0086543), MedDRA:10007739(Cataract), NDFRT:N0000000698(Cataract [Disease/Finding]), MONDO:MONDO:0005129(cataract), HP:HP:0000518(Cataract) +PA166048909 Catatonia NDFRT:N0000000700(Catatonia), MONDO:MONDO:0800105(catatonia) +PA166123311 Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia (disorder) SnoMedCT:419671004(Catecholaminergic polymorphic ventricular tachycardia), MONDO:MONDO:0017990(catecholaminergic polymorphic ventricular tachycardia) +PA152240221 Caudal Duplication Anomaly MeSH:C564315(Caudal Duplication Anomaly), MONDO:MONDO:0011928(caudal duplication) +PA166048911 Causalgia NDFRT:N0000000701(Causalgia), MONDO:MONDO:0020572(complex regional pain syndrome type 2) +PA443652 Celiac Disease """CD - Celiac disease"", ""CD - Coeliac disease"", ""CS - Celiac sprue"", ""CS - Coeliac sprue"", ""Celiac disease"", ""Celiac sprue"", ""Celiac syndrome"", ""Coeliac sprue"", ""Coeliac syndrome"", ""Disease, Celiac"", ""Enteropathies, Gluten"", ""Enteropathy, Gluten"", ""GSE - Gluten-sensitive enteropathy"", ""Gluten Enteropathies"", ""Gluten Enteropathy"", ""Gluten-induced enteropathy syndrome"", ""Gluten-responsive sprue"", ""Gluten-sensitive enteropathy"", ""Idiopathic steatorrhea"", ""Idiopathic steatorrhoea"", ""Non-tropical sprue"", ""Nontropical sprue"", ""Sprue"", ""Steatorrhea"", ""Steatorrheas""" MeSH:D002446(Celiac Disease), SnoMedCT:197481005(Celiac disease NOS), SnoMedCT:275404008(Celiac rickets), SnoMedCT:396331005(Celiac disease), UMLS:C0007570(C0007570), MedDRA:10007864(Celiac disease), NDFRT:N0000000704(Celiac Disease [Disease/Finding]), MONDO:MONDO:0005130(celiac disease), HP:HP:0002608(Celiac disease) +PA443655 Cellulitis Cellulitis NOS, Phlegmon MeSH:D002481(Cellulitis), SnoMedCT:128045006(Cellulitis), SnoMedCT:200693005(Cellulitis NOS), SnoMedCT:385627004(Cellulitis), UMLS:C0007642(C0007642), MedDRA:10007882(Cellulitis), NDFRT:N0000000707(Cellulitis [Disease/Finding]), MONDO:MONDO:0005230(cellulitis), HP:HP:0100658(Cellulitis) +PA447048 Central Core Myopathy """Central Core Disease"", ""Central Core Diseases"", ""Central Core Myopathies"", ""Central Core Myopathy"", ""Central core disease"", ""Myopathies, Central Core"", ""Myopathy, Central Core"", ""Shy Magee Syndrome"", ""Shy-Magee Syndrome"", ""Syndrome, Shy-Magee""" """MeSH:D020512(Myopathy, Central Core)"", ""SnoMedCT:43152001(Central core disease)"", ""UMLS:C0751951(C0751951)"", ""MedDRA:10057620(Central core disease)"", ""NDFRT:N0000004154(Myopathy, Central Core [Disease/Finding])"", ""MONDO:MONDO:0007294(central core myopathy)""" +PA446345 Central Nervous System Cancer """Central Nervous System Neoplasms, Primary"", ""Central Nervous System Tumors"", ""Neoplasm of central nervous system"", ""Neoplasms, Central Nervous System"", ""Primary Central Nervous System Neoplasms"", ""Tumors, Central Nervous System""" MeSH:D016543(Central Nervous System Neoplasms), SnoMedCT:126951006(Neoplasm of central nervous system), UMLS:C0085136(C0085136), MedDRA:10007958(Central nervous system neoplasm), NDFRT:N0000003434(Central Nervous System Neoplasms [Disease/Finding]), MONDO:MONDO:0002714(central nervous system cancer) +PA443657 Central Nervous System Disorder """CNS Disease"", ""CNS Diseases"", ""Central Nervous System Diseases"", ""Central Nervous System Disorders"", ""Disease of the central nervous system, NOS"", ""Disorder of the central nervous system"", ""Encephalomyeloneuropathy"", ""Encephalomyeloneuropathy, NOS""" MeSH:D002493(Central Nervous System Diseases), SnoMedCT:23853001(Disorder of the central nervous system), SnoMedCT:267700003(Central nervous system), UMLS:C0007682(C0007682), MedDRA:10007943(Central nervous system disorder), NDFRT:N0000000709(Central Nervous System Diseases [Disease/Finding]), MONDO:MONDO:0002602(central nervous system disorder) +PA443658 Central Nervous System Infectious Disorder """Central Nervous System Infection"", ""Infections, Central Nervous System"", ""Infectious disease of central nervous system""" MeSH:D002494(Central Nervous System Infections), SnoMedCT:128117002(Infectious disease of central nervous system), UMLS:C0007684(C0007684), MedDRA:10061036(Central nervous system infection), NDFRT:N0000000710(Central Nervous System Infections [Disease/Finding]), MONDO:MONDO:0024619(central nervous system infectious disorder) +PA165108218 Central nervous system tuberculosis Tuberculoma of brain """MeSH:D016862(Tuberculoma, Intracranial)"", ""SnoMedCT:416265003(Tuberculoma of brain)"", ""UMLS:C0085388(C0085388)"", ""MedDRA:10044731(Tuberculoma of brain)"", ""NDFRT:N0000003487(Tuberculoma, Intracranial [Disease/Finding])"", ""MONDO:MONDO:0005696(central nervous system tuberculosis)""" +PA443659 Cerebellar Ataxia """Adiadochokineses"", ""Adiadochokinesis"", ""Ataxia, Cerebellar"", ""Ataxias, Cerebellar"", ""Cerebellar Ataxias"", ""Cerebellar Dysmetria"", ""Cerebellar Dysmetrias"", ""Cerebellar Hemiataxia"", ""Cerebellar Hemiataxias"", ""Cerebellar Incoordination"", ""Cerebellar Incoordinations"", ""Cerebellar ataxia NOS"", ""Dysmetria"", ""Dysmetria, Cerebellar"", ""Dysmetrias"", ""Dysmetrias, Cerebellar"", ""Hemiataxia, Cerebellar"", ""Hemiataxias, Cerebellar"", ""Hypermetria"", ""Hypermetrias"", ""Incoordination, Cerebellar"", ""Incoordinations, Cerebellar""" MeSH:D002524(Cerebellar Ataxia), SnoMedCT:267586009(Cerebellar ataxia NOS), SnoMedCT:85102008(Cerebellar ataxia), UMLS:C0007758(C0007758), MedDRA:10003592(Ataxia cerebellar), NDFRT:N0000000711(Cerebellar Ataxia [Disease/Finding]), MONDO:MONDO:0000437(cerebellar ataxia) +PA443669 Cerebral Hemorrhage """Brain Hemorrhage, Cerebral"", ""Brain Hemorrhages, Cerebral"", ""Cerebral Brain Hemorrhage"", ""Cerebral Brain Hemorrhages"", ""Cerebral Hemorrhages"", ""Cerebral Parenchymal Hemorrhage"", ""Cerebral Parenchymal Hemorrhages"", ""Cerebral haemorrhage"", ""Cerebral haemorrhage NOS"", ""Cerebral hemorrhage"", ""Cerebral hemorrhage NOS"", ""Cerebrum Hemorrhage"", ""Cerebrum Hemorrhages"", ""Haemorrhagic cerebrum"", ""Hemorrhage, Cerebral"", ""Hemorrhage, Cerebral Brain"", ""Hemorrhage, Cerebral Parenchymal"", ""Hemorrhage, Cerebrum"", ""Hemorrhage, Intracerebral"", ""Hemorrhages, Cerebral"", ""Hemorrhages, Cerebral Brain"", ""Hemorrhages, Cerebral Parenchymal"", ""Hemorrhages, Cerebrum"", ""Hemorrhages, Intracerebral"", ""Intracerebral Hemorrhage"", ""Intracerebral Hemorrhages"", ""Intracerebral haemorrhage (ICH)"", ""Intracerebral haemorrhage NOS"", ""Intracerebral hemorrhage (ICH)"", ""Intracerebral hemorrhage NOS"", ""Parenchymal Hemorrhage, Cerebral"", ""Parenchymal Hemorrhages, Cerebral""" MeSH:D002543(Cerebral Hemorrhage), SnoMedCT:195173001(Intracerebral hemorrhage NOS), SnoMedCT:266313001(Cerebral hemorrhage NOS), SnoMedCT:274100004(Cerebral haemorrhage), SnoMedCT:73020009(Cerebral hemisphere hemorrhage), UMLS:C0007784(C0007784), MedDRA:10008111(Cerebral haemorrhage), NDFRT:N0000000721(Cerebral Hemorrhage [Disease/Finding]), MONDO:MONDO:0013792(intracerebral hemorrhage), HP:HP:0001342(Cerebral hemorrhage) +PA443670 Cerebral Infarction """Anterior Choroidal Artery Infarction"", ""Cerebral Infarction, Left Hemisphere"", ""Cerebral Infarction, Right Hemisphere"", ""Cerebral Infarctions"", ""Cerebral infarction"", ""Cerebral, Left Hemisphere, Infarction"", ""Cerebral, Right Hemisphere, Infarction"", ""Infarction, Cerebral"", ""Infarction, Cerebral, Left Hemisphere"", ""Infarction, Cerebral, Right Hemisphere"", ""Infarction, Left Hemisphere, Cerebral"", ""Infarction, Right Hemisphere, Cerebral"", ""Infarction, Subcortical"", ""Infarctions, Cerebral"", ""Infarctions, Subcortical"", ""Left Hemisphere, Cerebral Infarction"", ""Left Hemisphere, Infarction, Cerebral"", ""Posterior Choroidal Artery Infarction"", ""Right Hemisphere, Cerebral Infarction"", ""Right Hemisphere, Infarction, Cerebral"", ""Subcortical Infarction"", ""Subcortical Infarctions""" MeSH:D002544(Cerebral Infarction), SnoMedCT:266256009(Cerebral infarction NOS), SnoMedCT:432504007(Cerebral infarction), UMLS:C0007785(C0007785), MedDRA:10008117(Cerebral infarct), NDFRT:N0000000722(Cerebral Infarction [Disease/Finding]), MONDO:MONDO:0002679(cerebral infarction) +PA443673 Cerebral Palsy """Athetoid Cerebral Palsy"", ""Atonic Cerebral Palsy"", ""CP (Cerebral Palsy)"", ""CP - Cerebral palsy"", ""Cerebral Palsies, Athetoid"", ""Cerebral Palsies, Dyskinetic"", ""Cerebral Palsies, Dystonic-Rigid"", ""Cerebral Palsies, Monoplegic"", ""Cerebral Palsy, Athetoid"", ""Cerebral Palsy, Atonic"", ""Cerebral Palsy, Congenital"", ""Cerebral Palsy, Diplegic, Infantile"", ""Cerebral Palsy, Dyskinetic"", ""Cerebral Palsy, Dystonic Rigid"", ""Cerebral Palsy, Dystonic-Rigid"", ""Cerebral Palsy, Hypotonic"", ""Cerebral Palsy, Mixed"", ""Cerebral Palsy, Monoplegic"", ""Cerebral Palsy, Monoplegic, Infantile"", ""Cerebral Palsy, Quadriplegic, Infantile"", ""Cerebral Palsy, Rolandic Type"", ""Cerebral Palsy, Spastic"", ""Cerebral palsy"", ""Congenital Cerebral Palsy"", ""Diplegia, Spastic"", ""Diplegias, Spastic"", ""Diplegic Infantile Cerebral Palsy"", ""Dyskinetic Cerebral Palsy"", ""Dystonic-Rigid Cerebral Palsies"", ""Dystonic-Rigid Cerebral Palsy"", ""Hypotonic Cerebral Palsies"", ""Hypotonic Cerebral Palsy"", ""Infantile Cerebral Palsy, Diplegic"", ""Infantile Cerebral Palsy, Monoplegic"", ""Infantile Cerebral Palsy, Quadriplegic"", ""Little Disease"", ""Little's Disease"", ""Mixed Cerebral Palsies"", ""Mixed Cerebral Palsy"", ""Monoplegic Cerebral Palsies"", ""Monoplegic Cerebral Palsy"", ""Monoplegic Infantile Cerebral Palsy"", ""Quadriplegic Infantile Cerebral Palsy"", ""Rolandic Type Cerebral Palsy"", ""Spastic Cerebral Palsies"", ""Spastic Cerebral Palsy"", ""Spastic Diplegia"", ""Spastic Diplegias""" MeSH:D002547(Cerebral Palsy), SnoMedCT:128188000(Cerebral palsy), UMLS:C0007789(C0007789), MedDRA:10008129(Cerebral palsy), NDFRT:N0000000725(Cerebral Palsy [Disease/Finding]), MONDO:MONDO:0006497(cerebral palsy), HP:HP:0100021(Cerebral palsy) +PA447276 Cerebral sinovenous thrombosis Thrombosis of cerebral veins, cerebral vein thrombosis SnoMedCT:95455008(Thrombosis of cerebral veins), UMLS:C0151945(C0151945), MedDRA:10008138(Cerebral venous thrombosis), MONDO:MONDO:0017993(cerebral sinovenous thrombosis) +PA443678 Cerebrovascular Disorders """Brain Vascular Disorder"", ""Brain Vascular Disorders"", ""CVD - Cerebrovascular disease"", ""Cerebrovascular Disorder"", ""Cerebrovascular Insufficiencies"", ""Cerebrovascular Insufficiency"", ""Cerebrovascular Occlusion"", ""Cerebrovascular Occlusions"", ""Cerebrovascular disease"", ""Cerebrovascular disease NOS"", ""Insufficiencies, Cerebrovascular"", ""Insufficiency, Cerebrovascular"", ""Intracranial Vascular Disease"", ""Intracranial Vascular Diseases"", ""Intracranial Vascular Disorder"", ""Intracranial Vascular Disorders"", ""Occlusion, Cerebrovascular"", ""Occlusions, Cerebrovascular"", ""Vascular Disease, Intracranial"", ""Vascular Diseases, Intracranial"", ""Vascular Disorder, Brain"", ""Vascular Disorder, Intracranial"", ""Vascular Disorders, Brain"", ""Vascular Disorders, Intracranial""" MeSH:D002561(Cerebrovascular Disorders), SnoMedCT:195249004(Cerebrovascular disease NOS), SnoMedCT:62914000(Cerebrovascular disease), UMLS:C0007820(C0007820), MedDRA:10008134(Cerebral vascular disturbance), NDFRT:N0000000730(Cerebrovascular Disorders [Disease/Finding]), MONDO:MONDO:0011057(cerebrovascular disorder) +PA446946 Cerebrovascular Trauma """Brain Injury, Vascular"", ""Brain Vascular Injury"", ""Brain Vascular Trauma"", ""Injury, Brain Vascular"", ""Injury, Vascular Brain"", ""Injury, Vascular, Brain"", ""Trauma, Brain Vascular"", ""Trauma, Cerebrovascular"", ""Vascular Brain Injuries"", ""Vascular Brain Injury"", ""Vascular Injury, Brain"", ""Vascular Trauma, Brain"", ""Vascular Traumas, Brain""" MONDO:MONDO:0005621(vascular brain injury) +PA446663 Cervical Intraepithelial Neoplasia """CIN - Cervical intraepithelial neoplasia"", ""Cervical Intraepithelial Neoplasia, Grade III"", ""Cervical Intraepithelial Neoplasm"", ""Cervical Intraepithelial Neoplasms"", ""Cervical intraepithelial neoplasia"", ""Intraepithelial Neoplasia, Cervical"", ""Intraepithelial Neoplasm, Cervical"", ""Intraepithelial Neoplasms, Cervical"", ""Neoplasia, Cervical Intraepithelial"", ""Neoplasm, Cervical Intraepithelial"", ""Neoplasms, Cervical Intraepithelial""" MeSH:D002578(Uterine Cervical Dysplasia), SnoMedCT:285636001(Cervical intraepithelial neoplasia), UMLS:C0206708(C0206708), MedDRA:10056576(Cervical intraepithelial neoplasia), NDFRT:N0000003754(Cervical Intraepithelial Neoplasia [Disease/Finding]), MONDO:MONDO:0006736(dysplasia of cervix), MONDO:MONDO:0022394(cervical intraepithelial neoplasia), HP:HP:0032242(Cervical intraepithelial neoplasia) +PA445939 Chagas Disease """Chagas' Disease"", ""Chagas' disease"", ""Disease, Chagas"", ""Disease, Chagas'"", ""Infection by Trypanosoma cruzi"", ""South American Trypanosomiasis"", ""Trypanosomiasis, South American""" MeSH:D014355(Chagas Disease), SnoMedCT:77506005(Infection by Trypanosoma cruzi), UMLS:C0041234(C0041234), MedDRA:10001935(American trypanosomiasis), NDFRT:N0000003028(Chagas Disease [Disease/Finding]), MONDO:MONDO:0001444(Chagas disease) +PA166048734 Chancroid NDFRT:N0000000741(Chancroid), MONDO:MONDO:0001797(chancroid) +PA443690 Charcot-Marie-Tooth Disease """Atrophies, Peroneal Muscular"", ""Atrophy, Muscular, Peroneal"", ""Atrophy, Peroneal Muscular"", ""CMT - Charcot-Marie-Tooth disease"", ""Charcot Marie Disease"", ""Charcot Marie Tooth Disease"", ""Charcot Marie Tooth Disease, Type I"", ""Charcot Marie Tooth Disease, Type II"", ""Charcot Marie Tooth Disease, Type Ia"", ""Charcot Marie Tooth Disease, Type Ib"", ""Charcot-Marie Disease"", ""Charcot-Marie-Tooth Disease, Type I"", ""Charcot-Marie-Tooth Disease, Type II"", ""Charcot-Marie-Tooth Disease, Type Ia"", ""Charcot-Marie-Tooth Disease, Type Ib"", ""HMN Distal Type I"", ""HMSN I"", ""HMSN II"", ""HMSN IIs"", ""HMSN Is"", ""HMSN Type I"", ""HMSN Type II"", ""HMSN Type IIs"", ""HMSN Type Is"", ""Hereditary Motor and Sensory-Neuropathy Type II"", ""Hereditary Motor, and Sensory Neuropathy Type I"", ""Hereditary Type I Motor and Sensory Neuropathy"", ""I, HMSN"", ""II, HMSN"", ""IIs, HMSN"", ""IIs, HMSN Type"", ""Is, HMSN"", ""Is, HMSN Type"", ""Muscular Atrophies, Peroneal"", ""Muscular Atrophy, Peroneal"", ""Neuropathy, Type I Hereditary Motor and Sensory"", ""Neuropathy, Type II Hereditary Motor and Sensory"", ""Peroneal Muscular Atrophies"", ""Peroneal Muscular Atrophy"", ""Roussy Levy Syndrome"", ""Roussy-Levy Syndrome"", ""Syndrome, Roussy-Levy"", ""Type IIs, HMSN"", ""Type Is, HMSN""" MeSH:D002607(Charcot-Marie-Tooth Disease), SnoMedCT:193162006(Peroneal muscular atrophy NOS), SnoMedCT:50548001(Charcot-Marie-Tooth disease), UMLS:C0007959(C0007959), MedDRA:10008414(Charcot-Marie-Tooth disease), NDFRT:N0000000742(Charcot-Marie-Tooth Disease [Disease/Finding]), MONDO:MONDO:0015626(Charcot-Marie-Tooth disease) +PA145007176 CHARGE syndrome UMLS:C1535927(CHARGE syndrome), MedDRA:10064063(CHARGE syndrome), NDFRT:N0000182178(CHARGE Syndrome [Disease/Finding]), MONDO:MONDO:0008965(CHARGE syndrome) +PA443694 Chest Pain """Chest Pains"", ""Chest pain"", ""Pain, Chest"", ""Pains, Chest"", ""[D]Chest pain""" """MeSH:D002637(Chest Pain)"", ""SnoMedCT:161978005(Chest pain NOS)"", ""SnoMedCT:207078009([D]Chest pain)"", ""SnoMedCT:271330001([D]Chest pain, unspecified)"", ""SnoMedCT:29857009(Chest pain)"", ""UMLS:C0008031(C0008031)"", ""MedDRA:10008479(Chest pain)"", ""NDFRT:N0000000746(Chest Pain [Disease/Finding])"", ""HP:HP:0100749(Chest pain)""" +PA443697 Chickenpox """Chicken Pox"", ""Chickenpox, NOS"", ""Varicella"", ""Varicella infection""" MONDO:MONDO:0005700(chickenpox) +PA166048745 Child NDFRT:N0000010205(Child), MONDO:MONDO:0017014(interstitial lung disease specific to childhood), MONDO:MONDO:0017015(primary interstitial lung disease specific to childhood) +PA166048756 Child Development Disorders, Pervasive """NDFRT:N0000000753(Child Development Disorders, Pervasive)"", ""MONDO:MONDO:0000594(pervasive developmental disorder)""" +PA447149 Chills Chill MeSH:D023341(Chills), SnoMedCT:43724002(Chill), UMLS:C0085593(C0085593), MedDRA:10008531(Chills), NDFRT:N0000004252(Chills [Disease/Finding]), HP:HP:0025143(Chills) +PA166048757 Chlamydiaceae Infections NDFRT:N0000000755(Chlamydiaceae Infections), MONDO:MONDO:0020776(chlamydiaceae infections) +PA166048736 Chlamydia Infections NDFRT:N0000000754(Chlamydia Infections), MONDO:MONDO:0021697(chlamydia infectious disease) +PA446654 Cholangiocarcinoma Cholangiocarcinomas, Cholangiocellular carcinoma MeSH:D018281(Cholangiocarcinoma), SnoMedCT:312104005(Cholangiocarcinoma of biliary tract), SnoMedCT:70179006(Cholangiocarcinoma), UMLS:C0206698(C0206698), MedDRA:10008593(Cholangiocarcinoma), NDFRT:N0000003745(Cholangiocarcinoma [Disease/Finding]), MONDO:MONDO:0019087(cholangiocarcinoma), HP:HP:0030153(Cholangiocarcinoma) +PA443703 Cholangitis Cholangitides, Form of cholangitis MeSH:D002761(Cholangitis), SnoMedCT:197445007(Cholangitis NOS), SnoMedCT:246181008(Form of cholangitis), SnoMedCT:82403002(Cholangitis), UMLS:C0008311(C0008311), MedDRA:10008604(Cholangitis), NDFRT:N0000000758(Cholangitis [Disease/Finding]), MONDO:MONDO:0004789(cholangitis), HP:HP:0030151(Cholangitis) +PA443705 Cholelithiasis """Biliary Calculi"", ""Biliary Calculus"", ""Calculi, Biliary"", ""Calculus, Biliary"", ""Cholelithiases"", ""Gall Stone"", ""Gall Stones"", ""Gallstone"", ""Gallstones"", ""Stone, Gall"", ""Stones, Gall""" MeSH:D002769(Cholelithiasis), SnoMedCT:197403005(Cholelithiasis NOS), UMLS:C0008350(C0008350), MedDRA:10008629(Cholelithiasis), NDFRT:N0000000760(Cholelithiasis [Disease/Finding]), MONDO:MONDO:0012672(cholelithiasis), HP:HP:0001081(Cholelithiasis) +PA443706 Cholera Cholera NOS, Choleras MeSH:D002771(Cholera), SnoMedCT:186089005(Cholera NOS), SnoMedCT:63650001(Cholera), UMLS:C0008354(C0008354), MedDRA:10008631(Cholera), NDFRT:N0000000761(Cholera [Disease/Finding]), MONDO:MONDO:0015766(cholera) +PA443707 Cholestasis """Bile Duct Obstruction"", ""Bile Duct Obstructions"", ""Bile stasis"", ""Biliary Stases"", ""Biliary Stasis"", ""Cholestases"", ""Cholestasis, NOS"", ""Cholestatic Jaundice"", ""Cholestatic Jaundices"", ""Duct Obstruction, Bile"", ""Duct Obstructions, Bile"", ""Jaundice, Cholestatic"", ""Jaundice, Mechanical"", ""Jaundice, Obstructive"", ""Jaundices, Cholestatic"", ""Jaundices, Mechanical"", ""Jaundices, Obstructive"", ""Mechanical Jaundice"", ""Mechanical Jaundices"", ""Obstruction of bile duct NOS"", ""Obstruction of bile duct, NOS"", ""Obstruction, Bile Duct"", ""Obstructions, Bile Duct"", ""Obstructive Jaundice"", ""Obstructive Jaundices"", ""Occlusion of bile duct"", ""Stases, Biliary"", ""Stasis, Biliary""" MeSH:D002779(Cholestasis), SnoMedCT:197446008(Occlusion of bile duct), SnoMedCT:197447004(Obstruction of bile duct NOS), SnoMedCT:30144000(Obstruction of bile duct), SnoMedCT:33688009(Cholestasis), UMLS:C0008370(C0008370), MedDRA:10056375(Bile duct obstruction), NDFRT:N0000000762(Cholestasis [Disease/Finding]), MONDO:MONDO:0001751(cholestasis), HP:HP:0001396(Cholestasis) +PA443495 Cholestasis, Extrahepatic """Bile Duct Obstruction, Extrahepatic"", ""Biliary Stases, Extrahepatic"", ""Biliary Stasis, Extrahepatic"", ""Cholestases, Extrahepatic"", ""Cholestasis, Extrahepatic"", ""Extrahepatic Biliary Stases"", ""Extrahepatic Biliary Stasis"", ""Extrahepatic Cholestases"", ""Extrahepatic Cholestasis"", ""Extrahepatic cholestasis"", ""Extrahepatic obstructive biliary disease"", ""Jaundice, Cholestatic, Extrahepatic"", ""Jaundice, Obstructive, Extrahepatic"", ""Stases, Extrahepatic Biliary"", ""Stasis, Extrahepatic Biliary""" """MeSH:D001651(Cholestasis, Extrahepatic)"", ""SnoMedCT:20719006(Extrahepatic cholestasis)"", ""SnoMedCT:8262006(Extrahepatic obstructive biliary disease)"", ""UMLS:C0005398(C0005398)"", ""MedDRA:10008637(Cholestasis extrahepatic)"", ""NDFRT:N0000000546(Cholestasis, Extrahepatic [Disease/Finding])"", ""MONDO:MONDO:0006757(extrahepatic cholestasis)"", ""HP:HP:0012334(Extrahepatic cholestasis)""" +PA443708 Cholestasis, Intrahepatic """Bile Duct Obstruction, Intrahepatic"", ""Biliary Stases, Intrahepatic"", ""Biliary Stasis, Intrahepatic"", ""Cholestases, Intrahepatic"", ""Intrahepatic Biliary Stases"", ""Intrahepatic Biliary Stasis"", ""Intrahepatic Cholestases"", ""Intrahepatic Cholestasis"", ""Jaundice, Cholestatic, Intrahepatic"", ""Jaundice, Obstructive, Intrahepatic"", ""Stases, Intrahepatic Biliary"", ""Stasis, Intrahepatic Biliary""" """MeSH:D002780(Cholestasis, Intrahepatic)"", ""SnoMedCT:4637005(Intrahepatic cholestasis)"", ""UMLS:C0008372(C0008372)"", ""MedDRA:10008638(Cholestasis intrahepatic)"", ""NDFRT:N0000000763(Cholestasis, Intrahepatic [Disease/Finding])"", ""MONDO:MONDO:0019072(intrahepatic cholestasis)"", ""HP:HP:0001406(Intrahepatic cholestasis)""" +PA443710 Choline Deficiency """Choline Deficiencies"", ""Choline deficiency"", ""Deficiencies, Choline"", ""Deficiency, Choline""" MeSH:D002796(Choline Deficiency), SnoMedCT:238113006(Choline deficiency), UMLS:C0008412(C0008412), NDFRT:N0000000765(Choline Deficiency [Disease/Finding]), MONDO:MONDO:0004575(choline deficiency disease) +PA443713 Chondrodysplasia Punctata """Chondrodysplasia calcificans"", ""Chondrodysplasia punctata"", ""Chondrodysplasia punctata (stippled epiphyses) group"", ""Chondrodysplasia punctata congenita"", ""Chondrodystrophia Calcificans Congenita"", ""Conradi Hunermann Syndrome"", ""Conradi-Hunermann Syndrome"", ""Dysplasia Epiphysialis Punctata"", ""Epiphyses, Stippled"", ""Hunermann Conradi Syndrome"", ""Hunermann-Conradi Syndrome"", ""Stippled Epiphyses"", ""Syndrome, Conradi-Hunermann"", ""Syndrome, Hunermann-Conradi""" MeSH:D002806(Chondrodysplasia Punctata), SnoMedCT:205486004(Chondrodysplasia punctata), SnoMedCT:278715001(Chondrodysplasia punctata), SnoMedCT:360507004(Chondrodysplasia punctata congenita), UMLS:C0008445(C0008445), NDFRT:N0000000768(Chondrodysplasia Punctata [Disease/Finding]), MONDO:MONDO:0019701(chondrodysplasia punctata) +PA443720 Choriocarcinoma """Choriocarcinoma, no ICD-O subtype"", ""Choriocarcinomas"", ""Chorionepithelioma"", ""[M]Choriocarcinoma""" """MeSH:D002822(Choriocarcinoma)"", ""SnoMedCT:188188009(Choriocarcinoma)"", ""SnoMedCT:44769000(Choriocarcinoma, no ICD-O subtype)"", ""UMLS:C0008497(C0008497)"", ""MedDRA:10008757(Choriocarcinoma)"", ""NDFRT:N0000000775(Choriocarcinoma [Disease/Finding])"", ""MONDO:MONDO:0005207(choriocarcinoma)"", ""HP:HP:0100768(Choriocarcinoma)""" +PA446974 Choroidal Neovascularization """Choroid Neovascularization"", ""Choroid Neovascularizations"", ""Choroidal Neovascularizations"", ""Neovascularization, Choroid"", ""Neovascularization, Choroidal""" MeSH:D020256(Choroidal Neovascularization), UMLS:C0600518(Choroidal neovascularization), MedDRA:10060837(Choroidal neovascularization), NDFRT:N0000004079(Choroidal Neovascularization [Disease/Finding]), MONDO:MONDO:0810000(choroidal neovascularization), HP:HP:0011506(Choroidal neovascularization) +PA445914 Chromosomal disorder """Chromosomal Translocation"", ""Chromosomal Translocations"", ""Chromosomal translocation, NOS"", ""Translocation"", ""Translocation (Genetics)"", ""Translocation, Chromosomal"", ""Translocations"", ""Translocations (Genetics)"", ""Translocations, Chromosomal"", ""chromosome abnormality disorders""" """MeSH:D014178(Translocation, Genetic)"", ""SnoMedCT:15897004(Chromosomal translocation)"", ""UMLS:C0040715(C0040715)"", ""NDFRT:N0000003000(Translocation, Genetic [Disease/Finding])"", ""MONDO:MONDO:0019040(chromosomal disorder)""" +PA446834 Chromosome Breakage """Breakage, Chromosome"", ""Breakages, Chromosome"", ""Chromosome Breakages""" MeSH:D019457(Chromosome Breakage), UMLS:C0376628(Chromosome Breakage [Disease/Finding]), NDFRT:N0000003925(Chromosome Breakage [Disease/Finding]), HP:HP:0040012(Chromosome breakage) +PA444327 Chronic granulomatous disease """CGD - Chronic granulomatous disease"", ""Chronic Granulomatous Disease"", ""Chronic Granulomatous Diseases"", ""Chronic granulomatous disease"", ""Congenital dysphagocytosis"", ""Disease, Chronic Granulomatous"", ""Diseases, Chronic Granulomatous"", ""Granulomatous Diseases, Chronic""" """MeSH:D006105(Granulomatous Disease, Chronic)"", ""SnoMedCT:191352003(Congenital dysphagocytosis)"", ""SnoMedCT:387759001(Chronic granulomatous disease)"", ""UMLS:C0018203(C0018203)"", ""MedDRA:10008382(CGD)"", ""NDFRT:N0000001391(Granulomatous Disease, Chronic [Disease/Finding])"", ""MONDO:MONDO:0018305(chronic granulomatous disease)""" +PA446863 Chronic hepatitis C virus infection Chronic Hepatitis C, Chronic type C viral hepatitis """MeSH:D019698(Hepatitis C, Chronic)"", ""SnoMedCT:128302006(Chronic hepatitis C)"", ""UMLS:C0524910(C0524910)"", ""MedDRA:10008912(Chronic hepatitis C)"", ""NDFRT:N0000003954(Hepatitis C, Chronic [Disease/Finding])"", ""MONDO:MONDO:0005354(chronic hepatitis C virus infection)""" +PA444684 Chronic Kidney Failure """Chronic Kidney Failure"", ""Chronic Kidney Failures"", ""Chronic Kidney Insufficiencies"", ""Chronic Kidney Insufficiency"", ""Chronic Renal Failure"", ""Chronic Renal Failures"", ""Chronic Renal Insufficiencies"", ""Chronic Renal Insufficiency"", ""Disease, End-Stage Kidney"", ""Disease, End-Stage Renal"", ""Diseases, End-Stage Kidney"", ""Diseases, End-Stage Renal"", ""ESCRF - End stage chronic renal failure"", ""ESRD"", ""ESRD - End stage renal disease"", ""ESRF - End stage renal failure"", ""End Stage Kidney Disease"", ""End Stage Renal Disease"", ""End stage chronic renal failure"", ""End stage kidney disease"", ""End stage renal disease"", ""End-Stage Kidney Disease"", ""End-Stage Kidney Diseases"", ""End-Stage Renal Disease"", ""End-Stage Renal Diseases"", ""End-Stage Renal Failure"", ""End-Stage Renal Failures"", ""Failure, Chronic Kidney"", ""Failure, Chronic Renal"", ""Failure, End-Stage Renal"", ""Failures, Chronic Kidney"", ""Failures, Chronic Renal"", ""Failures, End-Stage Renal"", ""Insufficiencies, Chronic Kidney"", ""Insufficiencies, Chronic Renal"", ""Insufficiency, Chronic Kidney"", ""Insufficiency, Chronic Renal"", ""Kidney Disease, End-Stage"", ""Kidney Diseases, End-Stage"", ""Kidney Failures, Chronic"", ""Kidney Insufficiencies, Chronic"", ""Kidney Insufficiency, Chronic"", ""Renal Disease, End Stage"", ""Renal Disease, End-Stage"", ""Renal Diseases, End-Stage"", ""Renal Failure, Chronic"", ""Renal Failure, End Stage"", ""Renal Failure, End-Stage"", ""Renal Failures, Chronic"", ""Renal Failures, End-Stage"", ""Renal Insufficiencies, Chronic"", ""Renal Insufficiency, Chronic""" """MeSH:D007676(Kidney Failure, Chronic)"", ""SnoMedCT:46177005(End stage renal disease)"", ""SnoMedCT:90688005(Chronic renal failure syndrome)"", ""UMLS:C0022661(C0022661)"", ""MedDRA:10064848(Chronic kidney disease)"", ""NDFRT:N0000001750(Kidney Failure, Chronic [Disease/Finding])"", ""MONDO:MONDO:0005300(chronic kidney disease)""" +PA166195784 Chronic lung allograft dysfunction MedDRA:10089357(chronic lung allograft dysfunction) +PA446171 Chronic myelogenous leukemia, BCR-ABL1 positive """CGL - Chronic granulocytic leukaemia"", ""CML"", ""Chronic Granulocytic Leukemia"", ""Chronic Granulocytic Leukemias"", ""Chronic Myelocytic Leukemia"", ""Chronic Myelocytic Leukemias"", ""Chronic Myelogenous Leukemia"", ""Chronic Myelogenous Leukemias"", ""Chronic Myeloid Leukemia"", ""Chronic Myeloid Leukemias"", ""Chronic granulocytic leukemia"", ""Chronic myelocytic leukaemia"", ""Chronic myeloid leukemia NOS"", ""Granulocytic Leukemia, Chronic"", ""Granulocytic Leukemias, Chronic"", ""Leukemia, Chronic Granulocytic"", ""Leukemia, Chronic Myelocytic"", ""Leukemia, Chronic Myelogenous"", ""Leukemia, Chronic Myeloid"", ""Leukemia, Granulocytic, Chronic"", ""Leukemia, Myelocytic, Chronic"", ""Leukemia, Myelogenous, Chronic"", ""Leukemia, Myelogenous, Chronic, BCR-ABL Positive"", ""Leukemia, Myeloid, Chronic"", ""Leukemias, Chronic Granulocytic"", ""Leukemias, Chronic Myelocytic"", ""Leukemias, Chronic Myelogenous"", ""Leukemias, Chronic Myeloid"", ""Myelocytic Leukemia, Chronic"", ""Myelocytic Leukemias, Chronic"", ""Myelogenous Leukemia, Chronic"", ""Myelogenous Leukemias, Chronic"", ""Myeloid Leukemia, Chronic"", ""Myeloid Leukemias, Chronic"", ""[M]Chronic myeloid leukemia""" """MeSH:D015464(Leukemia, Myelogenous, Chronic, BCR-ABL Positive)"", ""SnoMedCT:188735005(Chronic myeloid leukemia NOS)"", ""SnoMedCT:63364005(Chronic myelogenous leukemia, no ICD-O subtype)"", ""SnoMedCT:92818009(Chronic myeloid leukemia, disease)"", ""UMLS:C0023473(C0023473)"", ""MedDRA:10008904(Chronic granulocytic leukaemia)"", ""NDFRT:N0000003261(Leukemia, Myelogenous, Chronic, BCR-ABL Positive [Disease/Finding])"", ""MONDO:MONDO:0011996(chronic myelogenous leukemia, BCR-ABL1 positive)""" +PA446182 Chronic myelomonocytic leukemia """CMML"", ""Chronic Myelomonocytic Leukemia"", ""Chronic Myelomonocytic Leukemias"", ""Chronic myelomonocytic leukaemia"", ""Chronic myelomonocytic leukaemia in transformation [obs]"", ""Chronic myelomonocytic leukaemia, Type I"", ""Chronic myelomonocytic leukaemia, Type II"", ""Chronic myelomonocytic leukemia"", ""Chronic myelomonocytic leukemia in transformation [obs]"", ""Chronic myelomonocytic leukemia, Type I"", ""Chronic myelomonocytic leukemia, Type II"", ""Leukemia, Chronic Myelomonocytic"", ""Leukemias, Chronic Myelomonocytic"", ""Myelomonocytic Leukemia, Chronic"", ""Myelomonocytic Leukemias, Chronic""" """MeSH:D015477(Leukemia, Myelomonocytic, Chronic)"", ""SnoMedCT:127225006(Chronic myelomonocytic leukemia)"", ""SnoMedCT:128831004(Chronic myelomonocytic leukemia)"", ""UMLS:C0023480(C0023480)"", ""MedDRA:10009018(Chronic myelomonocytic leukaemia)"", ""NDFRT:N0000003272(Leukemia, Myelomonocytic, Chronic [Disease/Finding])"", ""MONDO:MONDO:0020311(chronic myelomonocytic leukemia)"", ""HP:HP:0012325(Chronic myelomonocytic leukemia)""" +PA447178 Chronic Obstructive Pulmonary Disease """Airflow Obstruction, Chronic"", ""Airflow Obstructions, Chronic"", ""CAFL - Chronic airflow limitation"", ""CAO - Chronic airflow obstruction"", ""COAD"", ""COLD"", ""COLD - Chronic obstructive lung disease"", ""COPD"", ""COPD - Chronic obstructive pulmonary disease"", ""Chronic Airflow Obstruction"", ""Chronic Airflow Obstructions"", ""Chronic Obstructive Airway Disease"", ""Chronic Obstructive Lung Disease"", ""Chronic Obstructive Pulmonary Disease"", ""Chronic airflow limitation"", ""Chronic airflow obstruction"", ""Chronic airway disease"", ""Chronic airway obstruction"", ""Chronic irreversible airway obstruction"", ""Chronic obstructive airway disease"", ""Chronic obstructive lung disease"", ""Chronic obstructive lung disease, NEC"", ""Chronic obstructive lung disease, NOS"", ""Chronic obstructive pulmonary disease"", ""Chronic obstructive pulmonary disease NOS"", ""Chronic obstructive pulmonary disease finding""" """MeSH:D029424(Pulmonary Disease, Chronic Obstructive)"", ""SnoMedCT:13645005(Chronic obstructive lung disease)"", ""SnoMedCT:196003006(Chronic obstructive airways disease NOS)"", ""SnoMedCT:413846005(Chronic obstructive pulmonary disease finding)"", ""UMLS:C0024117(C0024117)"", ""MedDRA:10008828(Chronic airflow limitation)"", ""NDFRT:N0000011155(Pulmonary Disease, Chronic Obstructive [Disease/Finding])"", ""MONDO:MONDO:0005002(chronic obstructive pulmonary disease)""" +PA443264 Chronic primary adrenal insufficiency """Addison Disease"", ""Addison's Disease"", ""Addisons Disease"", ""Disease, Addison"", ""Disease, Addison's"", ""Primary adrenocortical insufficiency"", ""Primary hypoadrenalism"", ""chronic primary adrenal insufficiency""" MeSH:D000224(Addison Disease), SnoMedCT:363732003(Addison's disease), SnoMedCT:373662000(Primary adrenocortical insufficiency), UMLS:C0001403(C0001403), MedDRA:10001130(Addison's disease), NDFRT:N0000000305(Addison Disease [Disease/Finding]), MONDO:MONDO:0015129(chronic primary adrenal insufficiency) +PA443735 Ciliary Motility Disorders """Cilia Syndrome, Immotile"", ""Cilia Syndromes, Immotile"", ""Ciliary Dyskinesia"", ""Ciliary Dyskinesias"", ""Ciliary Motility Disorder"", ""Disorder, Ciliary Motility"", ""Disorders, Ciliary Motility"", ""Dyskinesia, Ciliary"", ""Dyskinesias, Ciliary"", ""ICS - Immotile cilia syndrome"", ""Immotile Cilia Syndrome"", ""Immotile Cilia Syndromes"", ""Primary ciliary dyskinesia"", ""Syndrome, Immotile Cilia"", ""Syndromes, Immotile Cilia""" MeSH:D002925(Ciliary Motility Disorders), SnoMedCT:86204009(Immotile cilia syndrome), UMLS:C0008780(C0008780), MedDRA:10060882(Immotile cilia syndrome), NDFRT:N0000000791(Ciliary Motility Disorders [Disease/Finding]), MONDO:MONDO:0016575(primary ciliary dyskinesia) +PA443736 Cleft Lip """Cleft Lips"", ""Cleft lip"", ""Congenital fissure of lip"", ""Harelip"", ""Harelips"", ""Lip, Cleft"", ""Lips, Cleft""" """MeSH:D002971(Cleft Lip)"", ""SnoMedCT:204606000(Cleft lip, unspecified)"", ""SnoMedCT:204609007(Cleft lip NOS)"", ""SnoMedCT:80281008(Cleft lip)"", ""UMLS:C0008924(C0008924)"", ""MedDRA:10049861(Cheiloschisis)"", ""NDFRT:N0000000792(Cleft Lip [Disease/Finding])"", ""MONDO:MONDO:0004747(cleft lip)"", ""HP:HP:0410030(Cleft lip)""" +PA443737 Cleft Palate """Cleft Palates"", ""Cleft palate NOS"", ""Cleft palate, NOS"", ""Cleft palate, unspecified"", ""Palate, Cleft"", ""Palates, Cleft"", ""Uranostaphyloschisis""" """MeSH:D002972(Cleft Palate)"", ""SnoMedCT:204605001(Cleft palate NOS)"", ""SnoMedCT:253986002(Palatoschisis)"", ""SnoMedCT:268196005(Cleft palate, unspecified)"", ""SnoMedCT:63567004(Uranostaphyloschisis)"", ""SnoMedCT:87979003(Cleft palate)"", ""UMLS:C0008925(C0008925)"", ""MedDRA:10009269(Cleft palate)"", ""NDFRT:N0000000793(Cleft Palate [Disease/Finding])"", ""MONDO:MONDO:0016064(cleft palate)"", ""HP:HP:0000175(Cleft palate)""" +PA443739 Clonorchiasis Chinese liver fluke disease, Clonorchiases, Clonorchiosis, Hepatic distomiasis due to Clonorchis sinensis, Oriental liver fluke disease MeSH:D003003(Clonorchiasis), SnoMedCT:11938002(Clonorchiasis), UMLS:C0009021(C0009021), MedDRA:10009344(Clonorchiasis), NDFRT:N0000000795(Clonorchiasis [Disease/Finding]), MONDO:MONDO:0005705(clonorchiasis) +PA166048883 Clostridium Infections NDFRT:N0000000796(Clostridium Infections), MONDO:MONDO:0024388(Clostridium infectious disease) +PA443741 Clubfoot Clubfoot - congenital, Congenital clubfoot, Congenital talipes equinovarus, Equinovarus, Equinovarus deformity of foot, Talipes Equinovarus, Talipes equinovarus MeSH:D003025(Clubfoot), SnoMedCT:249808002(Equinovarus deformity of foot), SnoMedCT:253957000(Clubfoot NOS), SnoMedCT:397932003(Talipes equinovarus), UMLS:C0009081(C0009081), MedDRA:10009687(Club foot congenital), NDFRT:N0000000797(Clubfoot [Disease/Finding]), MONDO:MONDO:0007342(clubfoot) +PA443742 Cluster Headache """Atypical Cluster Headache"", ""Atypical Cluster Headaches"", ""Cephalgia, Histamine"", ""Cephalgias, Histamine"", ""Chronic Cluster Headache"", ""Chronic Cluster Headaches"", ""Chronic cluster headache"", ""Ciliary Neuralgia"", ""Ciliary Neuralgias"", ""Ciliary neuralgia"", ""Cluster Headache Syndrome"", ""Cluster Headache Syndromes"", ""Cluster Headache, Atypical"", ""Cluster Headache, Chronic"", ""Cluster Headache, Episodic"", ""Cluster Headaches"", ""Cluster Headaches, Atypical"", ""Cluster Headaches, Chronic"", ""Cluster Headaches, Episodic"", ""Cluster headache"", ""Cluster headache syndrome"", ""Episodic Cluster Headache"", ""Episodic Cluster Headaches"", ""Headache Syndrome, Cluster"", ""Headache Syndromes, Cluster"", ""Headache, Atypical Cluster"", ""Headache, Chronic Cluster"", ""Headache, Cluster"", ""Headache, Episodic Cluster"", ""Headaches, Atypical Cluster"", ""Headaches, Chronic Cluster"", ""Headaches, Cluster"", ""Headaches, Episodic Cluster"", ""Histamine Cephalgia"", ""Histamine Cephalgias"", ""Histamine cephalgia"", ""Histamine headache"", ""Horton Syndrome"", ""Horton's Syndrome"", ""Horton's headache"", ""Horton's neuralgia"", ""Hortons Syndrome"", ""Migraine, Neuralgic"", ""Migraines, Neuralgic"", ""Migrainous neuralgia"", ""Neuralgia, Ciliary"", ""Neuralgias, Ciliary"", ""Neuralgic Migraine"", ""Neuralgic Migraines"", ""Neuralgic migraine"", ""Syndrome, Cluster Headache"", ""Syndrome, Horton"", ""Syndrome, Horton's"", ""Syndromes, Cluster Headache"", ""Vasomotor headache""" MeSH:D003027(Cluster Headache), SnoMedCT:193031009(Cluster headache), SnoMedCT:193947008(Ciliary neuralgia), SnoMedCT:230473009(Chronic cluster headache), UMLS:C0009088(C0009088), MedDRA:10059133(Cluster headache), NDFRT:N0000000798(Cluster Headache [Disease/Finding]), MONDO:MONDO:0043537(cluster headache syndrome), HP:HP:0012199(Cluster headache) +PA166170668 CNS depression Central nervous system depression MedDRA:10009710(CNS depression) +PA446900 Coagulation Protein Disorders """Blood Coagulation Factor Deficiencies"", ""Coagulation Protein Disorder"", ""Coagulation Proteins Disorder"", ""Coagulation Proteins Disorders"", ""Disorder, Coagulation Protein"", ""Disorder, Coagulation Proteins"", ""Disorders, Coagulation Protein"", ""Disorders, Coagulation Proteins"", ""Protein Disorder, Coagulation"", ""Protein Disorders, Coagulation"", ""Proteins Disorder, Coagulation"", ""Proteins Disorders, Coagulation""" MeSH:D020147(Coagulation Protein Disorders), UMLS:C0600503(Coagulation Protein Disorders [Disease/Finding]), NDFRT:N0000004004(Coagulation Protein Disorders [Disease/Finding]), MONDO:MONDO:0002242(coagulation protein disease) +PA446878 Cocaine dependence """Abuse, Cocaine"", ""Addiction, Cocaine"", ""Cocaine Abuse"", ""Cocaine Addiction"", ""Cocaine Dependence"", ""Cocaine Related Disorders"", ""Cocaine User"", ""Cocaine Users"", ""Cocaine-Related Disorder"", ""Cocaine-induced organic mental disorder"", ""Cocaine-related disorder"", ""Cocaine-related disorder, NOS"", ""Dependence, Cocaine"", ""Dependences, Cocaine"", ""Disorder, Cocaine-Related"", ""Disorders, Cocaine-Related"", ""User, Cocaine"", ""Users, Cocaine""" MeSH:D019970(Cocaine-Related Disorders), SnoMedCT:46975003(Cocaine-induced organic mental disorder), UMLS:C0236736(C0236736), NDFRT:N0000003981(Cocaine-Related Disorders [Disease/Finding]), MONDO:MONDO:0005186(cocaine dependence) +PA145007200 Coenzyme Q10 Deficiency MeSH:C564403(Coenzyme Q10 Deficiency), MONDO:MONDO:0018151(coenzyme Q10 deficiency) +PA166176306 Cognitive disorder """Cognitive Decline"", ""Cognitive Declines"", ""Cognitive Dysfunctions"", ""Cognitive Impairment"", ""Cognitive Impairment, Mild"", ""Cognitive Impairments"", ""Cognitive Impairments, Mild"", ""Decline, Cognitive"", ""Declines, Cognitive"", ""Deterioration, Mental"", ""Deteriorations, Mental"", ""Disorder, Mild Neurocognitive"", ""Disorders, Mild Neurocognitive"", ""Dysfunction, Cognitive"", ""Dysfunctions, Cognitive"", ""Impairment, Cognitive"", ""Impairment, Mild Cognitive"", ""Impairments, Cognitive"", ""Impairments, Mild Cognitive"", ""Mental Deterioration"", ""Mental Deteriorations"", ""Mild Cognitive Impairment"", ""Mild Cognitive Impairments"", ""Mild Neurocognitive Disorder"", ""Mild Neurocognitive Disorders"", ""Neurocognitive Disorder, Mild"", ""Neurocognitive Disorders, Mild""" MeSH:D019965(Neurocognitive Disorders), MeSH:D060825(Cognitive Dysfunction), SnoMedCT:443265004(Cognitive disorder), MedDRA:10057668(Cognitive disorder), MONDO:MONDO:0002039(cognitive disorder) +PA443749 Colitis Colitides MeSH:D003092(Colitis), SnoMedCT:64226004(Colitis), UMLS:C0009319(C0009319), MedDRA:10009887(Colitis), NDFRT:N0000000806(Colitis [Disease/Finding]), MONDO:MONDO:0005292(colitis), HP:HP:0002583(Colitis) +PA166048927 Colitis, Ischemic """NDFRT:N0000003525(Colitis, Ischemic)"", ""MONDO:MONDO:0000701(ischemic colitis)""" +PA443751 Collagen Diseases """Collagen Disease"", ""Collagen disorder"", ""Diffuse disease of connective tissue, NOS"", ""Disease, Collagen"", ""Diseases, Collagen""" MeSH:D003095(Collagen Diseases), SnoMedCT:201454004(Collagen disease NOS), SnoMedCT:81573002(Collagen disease), UMLS:C0009326(C0009326), MedDRA:10009903(Collagen disorder), NDFRT:N0000000808(Collagen Diseases [Disease/Finding]), MONDO:MONDO:0021103(obsolete collagen diseases) +PA443754 Colonic Diseases """Colonic Disease"", ""Disease of colon"", ""Disease, Colonic"", ""Diseases, Colonic"", ""Disorder of colon""" MeSH:D003108(Colonic Diseases), SnoMedCT:128524007(Disorder of colon), UMLS:C0009373(C0009373), NDFRT:N0000000811(Colonic Diseases [Disease/Finding]), MONDO:MONDO:0003409(colonic disorder) +PA443755 Colonic Diseases, Functional """Colitides, Mucous"", ""Colitis, Mucous"", ""Colon, Irritable"", ""Colonic Disease, Functional"", ""Disease, Functional Colonic"", ""Diseases, Functional Colonic"", ""Functional Colonic Disease"", ""Functional Colonic Diseases"", ""Irritable Bowel Syndrome"", ""Irritable Bowel Syndromes"", ""Irritable Colon"", ""Mucous Colitides"", ""Mucous Colitis"", ""Syndrome, Irritable Bowel"", ""Syndromes, Irritable Bowel""" """MeSH:D003109(Colonic Diseases, Functional)"", ""UMLS:C0009374(Colonic Diseases, Functional [Disease/Finding])"", ""NDFRT:N0000000812(Colonic Diseases, Functional [Disease/Finding])"", ""MONDO:MONDO:0002802(functional colonic disease)""" +PA443756 Colonic Neoplasms """Cancer of Colon"", ""Cancer of the Colon"", ""Cancer, Colon"", ""Cancer, Colonic"", ""Cancers, Colon"", ""Cancers, Colonic"", ""Colon Cancer"", ""Colon Cancers"", ""Colon Neoplasm"", ""Colon Neoplasms"", ""Colonic Cancer"", ""Colonic Cancers"", ""Colonic Neoplasm"", ""Neoplasm, Colon"", ""Neoplasm, Colonic"", ""Neoplasms, Colon"", ""Neoplasms, Colonic"", ""Tumour of colon""" MeSH:D003110(Colonic Neoplasms), SnoMedCT:126838000(Neoplasm of colon), UMLS:C0009375(C0009375), MedDRA:10009973(Colon neoplasia), NDFRT:N0000000813(Colonic Neoplasms [Disease/Finding]), MONDO:MONDO:0005401(colonic neoplasm) +PA443757 Colonic Polyps """Colonic Polyp"", ""Colonic polyp, NOS"", ""Polyp of colon"", ""Polyp, Colonic"", ""Polyps, Colonic""" MeSH:D003111(Colonic Polyps), SnoMedCT:68496003(Polyp of colon), UMLS:C0009376(C0009376), MedDRA:10010003(Colonic polyp), NDFRT:N0000000814(Colonic Polyps [Disease/Finding]), MONDO:MONDO:0021400(polyp of colon) +PA446108 Colorectal Neoplasms """Cancer, Colorectal"", ""Cancers, Colorectal"", ""Carcinoma, Colorectal"", ""Carcinomas, Colorectal"", ""Colorectal Cancer"", ""Colorectal Cancers"", ""Colorectal Carcinoma"", ""Colorectal Carcinomas"", ""Colorectal Neoplasm"", ""Colorectal Tumor"", ""Colorectal Tumors"", ""Neoplasm of large intestine"", ""Neoplasm, Colorectal"", ""Neoplasms, Colorectal"", ""Tumor of large intestine"", ""Tumor, Colorectal"", ""Tumors, Colorectal"", ""Tumour of large intestine""" MeSH:D015179(Colorectal Neoplasms), SnoMedCT:126837005(Neoplasm of large intestine), UMLS:C0009404(C0009404), NDFRT:N0000003198(Colorectal Neoplasms [Disease/Finding]), MONDO:MONDO:0005335(colorectal neoplasm) +PA443759 Color Vision Defects """Achromatopsia"", ""Acquired Color Blindness"", ""Blindness, Color"", ""Blue Color Blindness"", ""Color Blindness"", ""Color Blindness, Acquired"", ""Color Blindness, Blue"", ""Color Blindness, Green"", ""Color Blindness, Inherited"", ""Color Blindness, Red"", ""Color Blindness, Red Green"", ""Color Blindness, Red-Green"", ""Color Vision Defect"", ""Defect, Color Vision"", ""Defect, Deutan"", ""Defects, Color Vision"", ""Deutan Defect"", ""Green Color Blindness"", ""Inherited Color Blindness"", ""Monochromatopsia"", ""Protan Defect"", ""Red Color Blindness"", ""Red-Green Color Blindness"", ""Tritan Defect"", ""Vision Defect, Color"", ""Vision Defects, Color""" MeSH:D003117(Color Vision Defects), UMLS:C0009398(Color Vision Defects [Disease/Finding]), NDFRT:N0000000816(Color Vision Defects [Disease/Finding]), MONDO:MONDO:0001703(color vision disorder), HP:HP:0000551(Color vision defect) +PA443762 Coma Coma [D], Comas, Comatose, Exanimation, Exanimations, Pseudocoma, Pseudocomas, Stupor, Stupors, [D]Coma MeSH:D003128(Coma), SnoMedCT:307760008([D]Coma), SnoMedCT:371632003(Coma), UMLS:C0009421(C0009421), MedDRA:10010071(Coma), NDFRT:N0000000819(Coma [Disease/Finding]), HP:HP:0001259(Coma) +PA443766 Common Cold """Acute Coryza"", ""Acute coryza"", ""Acute infective rhinitis"", ""Acute nasopharyngitis, NOS"", ""Cold, Common"", ""Colds, Common"", ""Common Colds"", ""Coryza, Acute"", ""Infective rhinitis""" MeSH:D003139(Common Cold), SnoMedCT:82272006(Common cold), UMLS:C0009443(C0009443), MedDRA:10000937(Acute nasopharyngitis), NDFRT:N0000000824(Common Cold [Disease/Finding]), MONDO:MONDO:0005709(common cold) +PA443767 Communicable Diseases """Communicable Disease"", ""Communicable disease"", ""Contagious disease"", ""Disease due to infection"", ""Disease, Communicable"", ""Disease, Infectious"", ""Diseases, Communicable"", ""Diseases, Infectious"", ""Disorder due to infection"", ""Infection"", ""Infection, NOS"", ""Infectious Disease"", ""Infectious Diseases"", ""Infectious disease"", ""Infectious disease, NOS"", ""Infective disorder"", ""Transmissible disease""" MeSH:D003141(Communicable Diseases), SnoMedCT:189822004(Contagious disease), SnoMedCT:190563008(Transmissible disease), SnoMedCT:191415002(Communicable disease), SnoMedCT:40733004(Infectious disease), UMLS:C0009450(C0009450), MedDRA:10021881(Infections and infestations), NDFRT:N0000000825(Communicable Diseases [Disease/Finding]), MONDO:MONDO:0005550(infectious disease) +PA166170534 complete early virological response +PA165109063 Complex partial epileptic seizure MONDO:MONDO:0006710(complex partial epilepsy) +PA443771 Confusion """Bewilderment"", ""Confusion, Post Ictal"", ""Confusion, Post-Ictal"", ""Confusion, Reactive"", ""Confusional State"", ""Confusional States"", ""Confusional state"", ""Disorientation"", ""Post-Ictal Confusion"", ""Reactive Confusion"", ""State, Confusional"", ""States, Confusional"", ""[D]Confusion""" MeSH:D003221(Confusion), SnoMedCT:206780003([D]Confusion), SnoMedCT:286933003(Confusional state), UMLS:C0009676(C0009676), MedDRA:10010298(Confused), NDFRT:N0000000830(Confusion [Disease/Finding]), HP:HP:0001289(Confusion) +PA443223 Congenital Abnormalities """Abnormal development"", ""Abnormal development, NOS"", ""Abnormalities"", ""Abnormalities, Congenital"", ""Abnormality"", ""Abnormality, Congenital"", ""Anomalous formation"", ""Anomalous formation, NOS"", ""Birth Defect"", ""Birth Defects"", ""CM - Congenital malformation"", ""Congenital Abnormalities"", ""Congenital Abnormality"", ""Congenital Defect"", ""Congenital Defects"", ""Congenital abnormality, NOS"", ""Congenital anomaly"", ""Congenital anomaly, NOS"", ""Congenital deformity"", ""Congenital deformity, NOS"", ""Congenital malformation"", ""Congenital malformation, NOS"", ""Defect, Birth"", ""Defect, Congenital"", ""Defects, Birth"", ""Defects, Congenital"", ""Deformities"", ""Deformity"", ""Developmental abnormality"", ""Developmental anomaly"", ""Developmental anomaly, NOS"", ""Developmental defect"", ""Developmental defect, NOS"", ""Developmental malformation"", ""Developmental malformation, NOS"", ""Dysgenesis"", ""Dysgenesis, NOS"", ""Fetal malformation"", ""Malformation"", ""Malformation, NOS""" MeSH:D000013(Congenital Abnormalities), SnoMedCT:107656002(Congenital anomaly), SnoMedCT:112635002(Congenital malformation), SnoMedCT:205999005(Congenital anomaly NOS), SnoMedCT:21390004(Developmental abnormality), SnoMedCT:276654001(Congenital malformation), SnoMedCT:276655000(Congenital deformity), SnoMedCT:385297003(Congenital deformity), UMLS:C0000768(C0000768), MedDRA:10002614(Anomaly anomaly congen), NDFRT:N0000000264(Congenital Abnormalities [Disease/Finding]), MONDO:MONDO:0000839(obsolete congenital abnormality), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA152241952 Congenital diaphragmatic hernia """CDH - Congenital diaphragmatic hernia"", ""Congenital diaphragmatic hernia, NOS"", ""Hernia, Congenital Diaphragmatic""" SnoMedCT:17190001(Congenital diaphragmatic hernia), UMLS:C0235833(C0235833), MedDRA:10010439(Congenital diaphragmatic hernia), MONDO:MONDO:0005711(congenital diaphragmatic hernia), HP:HP:0000776(Congenital diaphragmatic hernia) +PA444367 Congenital Heart Defects """Abnormalities, Heart"", ""Abnormality, Heart"", ""Congenital Heart Defect"", ""Congenital Heart Defects"", ""Congenital heart anomaly NOS"", ""Cordi, Ectopia"", ""Cordis, Ectopia"", ""Defect, Congenital Heart"", ""Defects, Congenital Heart"", ""Ectopia Cordi"", ""Ectopia Cordis"", ""Heart Abnormalities"", ""Heart Abnormality"", ""Heart Defect, Congenital""" """MeSH:D006330(Heart Defects, Congenital)"", ""SnoMedCT:204413006(Congenital heart anomaly NOS)"", ""UMLS:C0018798(C0018798)"", ""MedDRA:10002616(Anomaly cardiac)"", ""NDFRT:N0000001431(Heart Defects, Congenital [Disease/Finding])"", ""MONDO:MONDO:0000119(congenital heart defects, multiple types)"", ""MONDO:MONDO:0005453(congenital heart disease)""" +PA145007194 Congenital lactase deficiency Lactase Deficiency, Congenital SnoMedCT:5388008(Congenital lactase deficiency), UMLS:C0268179(C0268179), MONDO:MONDO:0009115(congenital lactase deficiency) +PA165857066 Congenital nonspherocytic hemolytic anemia """UMLS:C0002882(Anemia, Hemolytic, Congenital Nonspherocytic [Disease/Finding])"", ""NDFRT:N0000000390(Anemia, Hemolytic, Congenital Nonspherocytic [Disease/Finding])"", ""MONDO:MONDO:0006506(congenital nonspherocytic hemolytic anemia)""" +PA447109 Congenital structural myopathy """Aggregate Myopathies, Tubular"", ""Aggregate Myopathy, Tubular"", ""Centronuclear Myopathies"", ""Centronuclear Myopathy"", ""Congenital Fiber Type Disproportion"", ""Congenital Non Progressive Myopathies"", ""Congenital Non-Progressive Myopathies"", ""Congenital Non-Progressive Myopathy"", ""Congenital Structural Myopathies"", ""Congenital Structural Myopathy"", ""Myopathies, Centronuclear"", ""Myopathies, Congenital Non-Progressive"", ""Myopathies, Congenital Structural"", ""Myopathies, Myotubular"", ""Myopathies, Tubular Aggregate"", ""Myopathy, Centronuclear"", ""Myopathy, Congenital Non-Progressive"", ""Myopathy, Congenital Structural"", ""Myopathy, Myotubular"", ""Myopathy, Tubular Aggregate"", ""Myotubular Myopathies"", ""Myotubular Myopathy"", ""Non Progressive Myopathies, Congenital"", ""Non-Progressive Myopathies, Congenital"", ""Non-Progressive Myopathy, Congenital"", ""Structural Myopathies, Congenital"", ""Structural Myopathy, Congenital"", ""Tubular Aggregate Myopathies"", ""Tubular Aggregate Myopathy""" """MeSH:D020914(Myopathies, Structural, Congenital)"", ""UMLS:C0752282(Myopathies, Structural, Congenital [Disease/Finding])"", ""NDFRT:N0000004216(Myopathies, Structural, Congenital [Disease/Finding])"", ""MONDO:MONDO:0002921(congenital structural myopathy)"", ""MONDO:MONDO:0018947(centronuclear myopathy)""" +PA166048914 Conjunctivitis, Acute Hemorrhagic """NDFRT:N0000000834(Conjunctivitis, Acute Hemorrhagic)"", ""MONDO:MONDO:0005634(acute hemorrhagic conjunctivitis)""" +PA166048761 Conjunctivitis, Allergic """NDFRT:N0000000835(Conjunctivitis, Allergic)"", ""HP:HP:0007879(Allergic conjunctivitis)""" +PA166048904 Conjunctivitis, Viral """NDFRT:N0000000838(Conjunctivitis, Viral)"", ""MONDO:MONDO:0043541(viral conjunctivitis)""" +PA443780 Connective Tissue Diseases """Connective Tissue Disease"", ""Connective tissue disease"", ""Disease of connective tissues"", ""Disease, Connective Tissue"", ""Diseases, Connective Tissue"", ""Disorder of connective tissue""" MeSH:D003240(Connective Tissue Diseases), SnoMedCT:105969002(Disorder of connective tissue), UMLS:C0009782(C0009782), MedDRA:10061087(Connective tissue disorder), NDFRT:N0000000839(Connective Tissue Diseases [Disease/Finding]), MONDO:MONDO:0003900(connective tissue disorder) +PA443782 Constipation CN - Constipation, Constipated, Constipation NOS, Costiveness, Difficult passing motion, Difficulty defecating, Difficulty opening bowels, Difficulty passing stool MeSH:D003248(Constipation), SnoMedCT:14760008(Constipation), SnoMedCT:197123003(Constipation NOS), UMLS:C0009806(C0009806), MedDRA:10010774(Constipation), NDFRT:N0000000841(Constipation [Disease/Finding]), MONDO:MONDO:0002203(constipation disorder), HP:HP:0002019(Constipation) +PA165108935 Constrictive pericarditis NOS """MeSH:D010494(Pericarditis, Constrictive)"", ""SnoMedCT:194969008(Constrictive pericarditis NOS)"", ""UMLS:C0031048(C0031048)"", ""MedDRA:10010783(Constrictive pericarditis)"", ""NDFRT:N0000002363(Pericarditis, Constrictive [Disease/Finding])"", ""MONDO:MONDO:0006711(constrictive pericarditis)""" +PA165108965 Corneal disorder NOS MeSH:D003316(Corneal Diseases), SnoMedCT:193856004(Corneal disorder NOS), UMLS:C0010034(C0010034), MedDRA:10061453(Corneal disorder), NDFRT:N0000000851(Corneal Diseases [Disease/Finding]), MONDO:MONDO:0000942(corneal disorder) +PA443792 Corneal Dystrophies, Hereditary """Corneal Dystrophy, Hereditary"", ""Corneal Granular Dystrophies"", ""Corneal Granular Dystrophy"", ""Corneal Macular Dystrophies"", ""Corneal Macular Dystrophy"", ""Corneal Stromal Dystrophies"", ""Corneal Stromal Dystrophy"", ""Dystrophies, Corneal Granular"", ""Dystrophies, Corneal Macular"", ""Dystrophies, Corneal Stromal"", ""Dystrophies, Groenouw's"", ""Dystrophies, Hereditary Corneal"", ""Dystrophy, Corneal Granular"", ""Dystrophy, Corneal Macular"", ""Dystrophy, Corneal Stromal"", ""Dystrophy, Hereditary Corneal"", ""Granular Dystrophies, Corneal"", ""Granular Dystrophy, Corneal"", ""Groenouw Dystrophies"", ""Groenouw's Dystrophies"", ""Groenouws Dystrophies"", ""Hereditary Corneal Dystrophies"", ""Hereditary Corneal Dystrophy"", ""Hereditary corneal dystrophy NOS"", ""Hereditary corneal dystrophy, NOS"", ""Macular Dystrophies, Corneal"", ""Macular Dystrophy, Corneal"", ""Stromal Dystrophies, Corneal"", ""Stromal Dystrophy, Corneal""" """MeSH:D003317(Corneal Dystrophies, Hereditary)"", ""SnoMedCT:193842001(Hereditary corneal dystrophy NOS)"", ""SnoMedCT:77797009(Hereditary corneal dystrophy)"", ""UMLS:C0010035(C0010035)"", ""MedDRA:10019867(Hereditary corneal dystrophies)"", ""NDFRT:N0000000852(Corneal Dystrophies, Hereditary [Disease/Finding])"", ""MONDO:MONDO:0018102(corneal dystrophy)""" +PA165108400 Corneal ulcer NOS MeSH:D003320(Corneal Ulcer), SnoMedCT:193763007(Corneal ulcer NOS), UMLS:C0010043(C0010043), MedDRA:10048492(Corneal ulcer), NDFRT:N0000000854(Corneal Ulcer [Disease/Finding]), MONDO:MONDO:0004577(corneal ulcer) +PA166048845 Coronary Aneurysm NDFRT:N0000000855(Coronary Aneurysm), MONDO:MONDO:0006714(coronary aneurysm) +PA166325701 coronary artery calcification MedDRA:10064747(Coronary artery calcification), HP:HP:0001717(Coronary artery calcification) +PA443796 Coronary Artery Disease """Arterioscleroses, Coronary"", ""Arteriosclerosis, Coronary"", ""Artery Disease, Coronary"", ""Artery Diseases, Coronary"", ""Atheroscleroses, Coronary"", ""Atherosclerosis, Coronary"", ""Coronary Arterioscleroses"", ""Coronary Arteriosclerosis"", ""Coronary Artery Disease"", ""Coronary Artery Diseases"", ""Coronary Atheroscleroses"", ""Coronary Atherosclerosis"", ""Disease, Coronary Artery"", ""Diseases, Coronary Artery"", ""Disorder of coronary artery""" MeSH:D003324(Coronary Artery Disease), SnoMedCT:414024009(Disorder of coronary artery), UMLS:C1956346(C1956346), MedDRA:10006896(CAD), NDFRT:N0000000856(Coronary Artery Disease [Disease/Finding]), MONDO:MONDO:0005010(coronary artery disorder) +PA443797 Coronary Disease """Coronary Diseases"", ""Coronary Heart Disease"", ""Coronary Heart Diseases"", ""Coronary Occlusion"", ""Coronary Occlusions"", ""Disease, Coronary"", ""Disease, Coronary Heart"", ""Diseases, Coronary"", ""Diseases, Coronary Heart"", ""Heart Disease, Coronary"", ""Heart Diseases, Coronary"", ""Occlusion, Coronary"", ""Occlusions, Coronary""" MeSH:D003327(Coronary Disease), UMLS:C0010068(Coronary disease), MedDRA:10011099(Coronary disease), NDFRT:N0000000857(Coronary Disease [Disease/Finding]), MONDO:MONDO:0005010(coronary artery disorder), HP:HP:0001677(Coronary artery atherosclerosis) +PA447325 Coronary Restenosis """Coronary Restenoses"", ""Coronary Restenosis"", ""Restenoses, Coronary"", ""Restenosis, Coronary"", ""restenosis""" MeSH:D023903(Coronary Restenosis), UMLS:C0948480(Coronary restenosis), MedDRA:10052789(Coronary restenosis), NDFRT:N0000011104(Coronary Restenosis [Disease/Finding]), MONDO:MONDO:0005355(coronary restenosis) +PA447152 Coronary Stenosis """Artery Stenoses, Coronary"", ""Artery Stenosis, Coronary"", ""Coronary Artery Stenoses"", ""Coronary Artery Stenosis"", ""Coronary Stenoses"", ""Coronary artery stenosis"", ""Stenoses, Coronary"", ""Stenoses, Coronary Artery"", ""Stenosis, Coronary"", ""Stenosis, Coronary Artery""" MeSH:D023921(Coronary Stenosis), SnoMedCT:233970002(Coronary artery stenosis), UMLS:C0242231(C0242231), MedDRA:10011089(Coronary artery stenosis), NDFRT:N0000010990(Coronary Stenosis [Disease/Finding]), MONDO:MONDO:0006715(coronary stenosis) +PA443798 Coronary Thrombosis """CT - Coronary thrombosis"", ""Coronary Thromboses"", ""Coronary artery thrombosis"", ""Coronary thrombosis"", ""Thromboses, Coronary"", ""Thrombosis - coronary"", ""Thrombosis, Coronary""" MeSH:D003328(Coronary Thrombosis), SnoMedCT:398274000(Coronary artery thrombosis), UMLS:C0010072(C0010072), MedDRA:10011091(Coronary artery thrombosis), NDFRT:N0000000858(Coronary Thrombosis [Disease/Finding]), MONDO:MONDO:0006716(coronary thrombosis) +PA443799 Coronary Vasospasm """Angina pectoris with documented spasm"", ""Artery Vasospasm, Coronary"", ""Artery Vasospasms, Coronary"", ""Coronary Artery Vasospasm"", ""Coronary Artery Vasospasms"", ""Coronary Vasospasms"", ""Coronary artery spasm"", ""Coronary spasm"", ""Vasospasm, Coronary"", ""Vasospasm, Coronary Artery"", ""Vasospasms, Coronary"", ""Vasospasms, Coronary Artery""" MeSH:D003329(Coronary Vasospasm), SnoMedCT:23687008(Coronary artery spasm), UMLS:C0010073(C0010073), MedDRA:10003225(Arteriospasm coronary), NDFRT:N0000000859(Coronary Vasospasm [Disease/Finding]), MONDO:MONDO:0005356(coronary vasospasm) +PA151958647 Corticobasal degeneration disorder Corticobasal degeneration(CBD), Corticodentatonigral degeneration with neuronal achromasia MeSH:D000088282(Corticobasal Degeneration), SnoMedCT:18842008(Corticobasal degeneration), UMLS:C0393570(C0393570), MedDRA:10078208(Corticobasal Degeneration), MONDO:MONDO:0022308(corticobasal degeneration disorder) +PA142297362 Costello Syndrome Costello syndrome SnoMedCT:309776008(Costello syndrome), UMLS:C0587248(C0587248), MedDRA:10067380(Costello syndrome), NDFRT:N0000181164(Costello Syndrome [Disease/Finding]), MONDO:MONDO:0009026(Costello syndrome) +PA443803 Cough C/O - cough, Complaining of cough, Coughing - function, Coughs, Observation of cough, [D]Cough MeSH:D003371(Cough), SnoMedCT:161935000(Cough symptom NOS), SnoMedCT:207066005([D]Cough), SnoMedCT:263731006(Coughing), SnoMedCT:272039006(C/O - cough), SnoMedCT:49727002(Cough), UMLS:C0010200(C0010200), MedDRA:10011224(Cough), NDFRT:N0000000863(Cough [Disease/Finding]), HP:HP:0012735(Cough) +PA166197121 COVID-19 2019-nCoV, SARS-CoV-2, SARS-nCoV-2 MONDO:MONDO:0100096(COVID-19) +PA152238055 Craniofrontonasal Syndrome Craniofrontonasal dysplasia MeSH:C536456(Craniofrontonasal dysplasia), MONDO:MONDO:0010570(craniofrontonasal syndrome) +PA166184864 Craving Cravings MeSH:D066249(Craving) +PA444647 Creutzfeldt-Jakob Syndrome """CJD"", ""CJD (Creutzfeldt Jakob Disease)"", ""CJD (Creutzfeldt-Jakob Disease)"", ""CJD - Creutzfeldt-Jakob disease"", ""CJD Variant (V CJD)"", ""CJD Variant (V-CJD)"", ""CJD Variants (V-CJD)"", ""CJDs (Creutzfeldt-Jakob Disease)"", ""Creutzfeldt Jakob Disease"", ""Creutzfeldt Jakob Disease, Familial"", ""Creutzfeldt Jakob Disease, New Variant"", ""Creutzfeldt Jakob Syndrome"", ""Creutzfeldt-Jakob Disease"", ""Creutzfeldt-Jakob Disease, Familial"", ""Creutzfeldt-Jakob Disease, New Variant"", ""Creutzfeldt-Jakob Diseases, Familial"", ""Creutzfeldt-Jakob disease"", ""Disease, Creutzfeldt-Jakob"", ""Disease, Familial Creutzfeldt-Jakob"", ""Disease, Jakob-Creutzfeldt"", ""Encephalopathies, Subacute Spongiform"", ""Encephalopathy, Subacute Spongiform"", ""Familial Creutzfeldt Jakob Disease"", ""Familial Creutzfeldt-Jakob Disease"", ""Familial Creutzfeldt-Jakob Diseases"", ""Jakob Creutzfeldt Disease"", ""Jakob Creutzfeldt Syndrome"", ""Jakob-Creutzfeldt Disease"", ""Jakob-Creutzfeldt Syndrome"", ""New Variant Creutzfeldt Jakob Disease"", ""New Variant Creutzfeldt-Jakob Disease"", ""Spongiform Encephalopathies, Subacute"", ""Spongiform Encephalopathy, Subacute"", ""Subacute Spongiform Encephalopathies"", ""Subacute Spongiform Encephalopathy"", ""Subacute spongiform encephalopathy"", ""Syndrome, Creutzfeldt-Jakob"", ""Syndrome, Jakob-Creutzfeldt"", ""V-CJD (Variant-Creutzfeldt-Jakob Disease)"", ""Variant, CJD (V-CJD)"", ""Variants, CJD (V-CJD)""" MeSH:D007562(Creutzfeldt-Jakob Syndrome), SnoMedCT:792004(Jakob-Creutzfeldt disease), UMLS:C0022336(C0022336), MedDRA:10009216(CJ disease), NDFRT:N0000001713(Creutzfeldt-Jakob Syndrome [Disease/Finding]), MONDO:MONDO:0005357(Creutzfeldt Jacob disease) +PA443813 Crigler-Najjar Syndrome """Bilirubin glucuronosyltransferase deficiency"", ""Crigler Najar Syndrome"", ""Crigler Najjar Syndrome"", ""Crigler-Najar Syndrome"", ""Crigler-Najjar syndrome"", ""Crigler-Najjar syndrome type I"", ""Crigler-Najjar syndrome, NOS"", ""Crigler-Najjar syndrome, type I"", ""Crigler-Najjar type 1"", ""Deficiency of glucuronosyltransferase"", ""Glucuronyltransferase deficiency"", ""Syndrome, Crigler-Najar"", ""Syndrome, Crigler-Najjar"", ""UDP glucuronyl transferase deficiency""" """MeSH:D003414(Crigler-Najjar Syndrome)"", ""SnoMedCT:28259009(Crigler-Najjar syndrome)"", ""SnoMedCT:8933000(Crigler-Najjar syndrome, type I)"", ""UMLS:C0010324(C0010324)"", ""MedDRA:10011386(Crigler-Najjar syndrome)"", ""NDFRT:N0000000873(Crigler-Najjar Syndrome [Disease/Finding])"", ""MONDO:MONDO:0009044(Crigler-Najjar syndrome)""" +PA152238067 Crisponi Syndrome Cold-induced sweating syndrome 1 MeSH:C536214(Crisponi syndrome), MONDO:MONDO:0010091(Cold-induced sweating syndrome 1) +PA443815 Crohn Disease """Colitis, Granulomatous"", ""Crohn's Disease"", ""Crohns Disease"", ""Enteritis, Granulomatous"", ""Enteritis, Regional"", ""Ileitis, Regional"", ""Ileitis, Terminal"", ""Ileocolitis""" MeSH:D003424(Crohn Disease), SnoMedCT:34000006(Crohn's disease), UMLS:C0010346(C0010346), MedDRA:10011398(Crohn's), NDFRT:N0000000875(Crohn Disease [Disease/Finding]), MONDO:MONDO:0005011(Crohn disease) +PA166159389 Cryoglobulinemia Cryoglobulinemias MeSH:D003449(Cryoglobulinemia), SnoMedCT:30911005(cryoglobulinemia), MedDRA:10011475(cryoglobulinemia), MONDO:MONDO:0005576(cryoglobulinemia), HP:HP:0100778(Cryoglobulinemia) +PA165108392 Cryptococcal meningitis Meningitis due to cryptococcus """MeSH:D016919(Meningitis, Cryptococcal)"", ""SnoMedCT:14232007(Cryptococcal meningitis)"", ""UMLS:C0085436(C0085436)"", ""MedDRA:10011487(Cryptococcal meningitis)"", ""NDFRT:N0000003511(Meningitis, Cryptococcal [Disease/Finding])"", ""MONDO:MONDO:0005723(Cryptococcal meningitis)"", ""HP:HP:0032160(Cryptococcal meningitis)""" +PA443820 Cryptococcosis """Busse-Buschke disease"", ""Busse-Buschke's disease"", ""Cryptococcoses"", ""Cryptococcosis NOS"", ""Cryptococcosis, NOS"", ""European Blastomycosis"", ""European blastomycosis"", ""European cryptococcosis"", ""Infection by Cryptococcus neoformans"", ""Torula"", ""Toruloses"", ""Torulosis""" MeSH:D003453(Cryptococcosis), SnoMedCT:187097008(Cryptococcosis NOS), SnoMedCT:42386007(Cryptococcosis), UMLS:C0010414(C0010414), MedDRA:10006837(C.neoformans infection), NDFRT:N0000000880(Cryptococcosis [Disease/Finding]), MONDO:MONDO:0005724(cryptococcosis) +PA443821 Cryptorchidism """Cryptorchidism NOS"", ""Cryptorchism"", ""Imperfectly descended testis"", ""Maldescent of testis"", ""Testes, Undescended"", ""Testis, Undescended"", ""UDT - Undescended testes"", ""Undescended Testes"", ""Undescended Testis"", ""Undescended testicle"", ""Undescended testicle NOS"", ""Undescended testis""" MeSH:D003456(Cryptorchidism), SnoMedCT:127907005(Undescended testis), SnoMedCT:204878001(Undescended testicle), SnoMedCT:204882004(Cryptorchidism NOS), SnoMedCT:268226005(Undescended testicle NOS), UMLS:C0010417(C0010417), MedDRA:10056600(Cryptorchidism), NDFRT:N0000000881(Cryptorchidism [Disease/Finding]), MONDO:MONDO:0009047(cryptorchidism), HP:HP:0000028(Cryptorchidism) +PA443822 Cryptosporidiosis Cryptosporidiasis, Cryptosporidioses MONDO:MONDO:0015474(cryptosporidiosis) +PA443823 Cushing Syndrome """Cushing's Syndrome"", ""Cushings Syndrome"", ""Syndrome, Cushing"", ""Syndrome, Cushing's""" MeSH:D003480(Cushing Syndrome), SnoMedCT:190505004(Cushing's syndrome NOS), UMLS:C0010481(C0010481), MedDRA:10011652(Cushing's syndrome), NDFRT:N0000000883(Cushing Syndrome [Disease/Finding]), MONDO:MONDO:0018912(Cushing syndrome) +PA444820 Cutaneous lupus erythematosus """Cutaneous Lupus Erythematosus"", ""Cutaneous lupus erythematosus"", ""Cutaneous lupus erythematosus, NOS"", ""Lupus Erythematosus, Cutaneous, Subacute"", ""Lupus Erythematosus, Subacute Cutaneous""" """MeSH:D008178(Lupus Erythematosus, Cutaneous)"", ""SnoMedCT:7119001(Cutaneous lupus erythematosus)"", ""UMLS:C0024137(C0024137)"", ""MedDRA:10056509(Cutaneous lupus erythematosus)"", ""NDFRT:N0000001885(Lupus Erythematosus, Cutaneous [Disease/Finding])"", ""MONDO:MONDO:0005282(cutaneous lupus erythematosus)"", ""MONDO:MONDO:0018887(obsolete rare cutaneous lupus erythematosus)""" +PA443824 Cutis Laxa """Dermatochalasia"", ""Dermatolyses"", ""Dermatolysis"", ""Dermatolysis, NOS"", ""Dermatomegaly"", ""Primary elastolysis"", ""Systematized elastorrhexis"", ""Systemic elastorrhexis""" MeSH:D003483(Cutis Laxa), SnoMedCT:58588007(Cutis laxa), UMLS:C0010495(C0010495), MedDRA:10011692(Cutis laxa), NDFRT:N0000000884(Cutis Laxa [Disease/Finding]), MONDO:MONDO:0016175(cutis laxa), HP:HP:0000973(Cutis laxa) +PA443825 Cyanosis Cyanoses, [D]Cyanosis MeSH:D003490(Cyanosis), SnoMedCT:119419001(Cyanosis of skin), SnoMedCT:206899000([D]Cyanosis), SnoMedCT:3415004(Cyanosis), UMLS:C0010520(C0010520), MedDRA:10011702(Cyanosed), NDFRT:N0000000885(Cyanosis [Disease/Finding]), HP:HP:0000961(Cyanosis) +PA166321661 Cyclic vomiting syndrome MedDRA:10062937(Cyclic vomiting syndrome), MONDO:MONDO:0010778(cyclic vomiting syndrome) +PA446656 Cystadenocarcinoma, Papillary """Cystadenocarcinomas, Papillary"", ""Papillary Cystadenocarcinoma"", ""Papillary Cystadenocarcinomas"", ""Papillary cystadenocarcinoma"", ""Papillary cystadenocarcinoma, NOS"", ""Papillocystic adenocarcinoma""" """MeSH:D018283(Cystadenocarcinoma, Papillary)"", ""SnoMedCT:2735009(Papillary cystadenocarcinoma)"", ""UMLS:C0206700(C0206700)"", ""NDFRT:N0000003747(Cystadenocarcinoma, Papillary [Disease/Finding])"", ""MONDO:MONDO:0005074(papillary cystadenocarcinoma)""" +PA166048831 Cysticercosis NDFRT:N0000000891(Cysticercosis), MONDO:MONDO:0015484(cysticercosis) +PA443829 Cystic Fibrosis """CF"", ""CF - Cystic fibrosis"", ""Cystic Fibrosis, Pancreatic"", ""Cystic fibrosis"", ""Cystic fibrosis NOS"", ""Fibrocystic Disease of Pancreas"", ""Fibrocystic disease"", ""Fibrosis, Cystic"", ""Fibrosis, Pancreatic Cystic"", ""Mucoviscidoses"", ""Mucoviscidosis"", ""Pancreas Fibrocystic Disease"", ""Pancreas Fibrocystic Diseases"", ""Pancreatic Cystic Fibroses"", ""Pancreatic Cystic Fibrosis""" MeSH:D003550(Cystic Fibrosis), SnoMedCT:190905008(Cystic fibrosis), SnoMedCT:190911006(Cystic fibrosis NOS), UMLS:C0010674(C0010674), MedDRA:10011762(Cystic fibrosis), NDFRT:N0000000890(Cystic Fibrosis [Disease/Finding]), MONDO:MONDO:0009061(cystic fibrosis) +PA166175756 Cystic fibrosis pulmonary exacerbation MedDRA:10068288(Cystic fibrosis pulmonary exacerbation) +PA446574 Cystic hygroma """Cystic Hygroma"", ""Cystic Hygromas"", ""Cystic Lymphangioma"", ""Cystic Lymphangiomas"", ""Cystic hygroma"", ""Cystic lymphangioma"", ""Hygroma"", ""Hygroma, Cystic"", ""Hygroma, NOS"", ""Hygromas"", ""Hygromas, Cystic"", ""Lymphangiomas, Cystic""" """MeSH:D018191(Lymphangioma, Cystic)"", ""SnoMedCT:399882002(Cystic hygroma)"", ""MedDRA:10011769(Cystic hygroma)"", ""MedDRA:10058949(Cystic lymphangioma)"", ""MONDO:MONDO:0009761(cystic hygroma)"", ""HP:HP:0000476(Cystic hygroma)""" +PA166048859 Cystinosis NDFRT:N0000000892(Cystinosis), MONDO:MONDO:0016239(cystinosis) +PA443833 Cystitis """Cystitides"", ""Cystitis, NOS""" MeSH:D003556(Cystitis), SnoMedCT:197857009(Cystitis NOS), SnoMedCT:38822007(Cystitis), UMLS:C0010692(C0010692), MedDRA:10063059(Bladder inflammation), NDFRT:N0000000894(Cystitis [Disease/Finding]), MONDO:MONDO:0006032(cystitis) +PA166197201 Cytokine storm Cytokine Release Syndrome MedDRA:10050685(Cytokine storm), HP:HP:0033041(Cytokine storm) +PA443836 Cytomegalovirus Infection """Cytomegalic Inclusion Disease"", ""Cytomegalic Inclusion Diseases"", ""Cytomegalic inclusion disease"", ""Cytomegalovirus Infection"", ""Cytomegalovirus infection"", ""Disease due to Cytomegalovirus"", ""Disease, Cytomegalic Inclusion"", ""Diseases, Cytomegalic Inclusion"", ""Inclusion Disease"", ""Inclusion Disease, Cytomegalic"", ""Inclusion Diseases"", ""Inclusion Diseases, Cytomegalic"", ""Infection, Cytomegalovirus"", ""Infections, Cytomegalovirus"", ""Salivary Gland Virus Disease"", ""Salivary gland virus disease""" MeSH:D003586(Cytomegalovirus Infections), SnoMedCT:28944009(Cytomegalovirus infection), UMLS:C0010823(C0010823), MedDRA:10009703(CMV infection), NDFRT:N0000000897(Cytomegalovirus Infections [Disease/Finding]), MONDO:MONDO:0005132(cytomegalovirus infection) +PA446540 Cytomegalovirus Retinitis """Cytomegaloviral Retinitis"", ""Retinitis, Cytomegaloviral"", ""Retinitis, Cytomegalovirus""" MONDO:MONDO:0000878(cytomegalovirus retinitis) +PA443840 Deafness """Acquired Deafness"", ""Acquired Deafnesses"", ""Bilateral Deafness"", ""Bilateral Deafnesses"", ""Complete Hearing Loss"", ""Complete Hearing Losses"", ""Deaf Mutism"", ""Deaf-Mutism"", ""Deafness, Acquired"", ""Deafness, Bilateral"", ""Deafness, Unilateral"", ""Deafnesses, Acquired"", ""Deafnesses, Bilateral"", ""Deafnesses, Unilateral"", ""Extreme Hearing Loss"", ""Extreme Hearing Losses"", ""Hearing Loss, Complete"", ""Hearing Loss, Extreme"", ""Hearing Losses, Complete"", ""Hearing Losses, Extreme"", ""Impairment, Hearing"", ""Impairments, Hearing"", ""Loss, Complete Hearing"", ""Losses, Complete Hearing"", ""Unilateral Deafness"", ""Unilateral Deafnesses""" MeSH:D003638(Deafness), SnoMedCT:162344009(Bilateral deafness), SnoMedCT:8531006(Complete deafness), UMLS:C0581883(C0581883), MedDRA:10052556(Deafness bilateral), NDFRT:N0000000901(Deafness [Disease/Finding]), MONDO:MONDO:0005365(hearing loss disorder), HP:HP:0000365(Hearing impairment) +PA443842 Death """Cardiac Death"", ""Death, Cardiac"", ""Determination of Death"", ""Near-Death Experience"", ""treatment related mortality""" MeSH:D003643(Death), SnoMedCT:419620001(Death), UMLS:C0011065(C0011065), MedDRA:10011906(Death), NDFRT:N0000000903(Death [Disease/Finding]) +PA443846 Decompression Sickness """Bends"", ""Caisson Disease"", ""Caisson Diseases"", ""Compressed air disease NOS"", ""Compressed-air disease"", ""Decompression sickness"", ""Disease, Caisson"", ""Diseases, Caisson"", ""Divers' palsy"", ""Sickness, Decompression""" MONDO:MONDO:0020797(decompression sickness) +PA166131631 Decreased glomerular filtration rate Glomerular filtration rate (observable entity) MeSH:D005919(Glomerular Filtration Rate), SnoMedCT:80274001(Glomerular filtration rate), HP:HP:0012213(Decreased glomerular filtration rate) +PA166123756 Decreased glomerular filtration rate Creatinine renal clearance, Decreased GFR, Impaired renal creatinine clearance, Reduced creatinine clearance SnoMedCT:102811001(Creatinine renal clearance), MedDRA:10011362(Creatinine clearance), HP:HP:0012213(Decreased glomerular filtration rate) +PA443848 Deficiency Diseases """Deficiency Disease"", ""Disease, Deficiency"", ""Diseases, Deficiency""" MeSH:D003677(Deficiency Diseases), UMLS:C0011156(Deficiency Diseases [Disease/Finding]), NDFRT:N0000000909(Deficiency Diseases [Disease/Finding]), MONDO:MONDO:0006873(nutritional deficiency disease) +PA166248781 deficiency of the interleukin-1 receptor antagonist DIRA MedDRA:10072224(Deficiency of the interleukin-1 receptor antagonist), MedDRA:10079457(DIRA), MONDO:MONDO:0013021(sterile multifocal osteomyelitis with periostitis and pustulosis) +PA161411144 Degeneration of lumbar intervertebral disc Lumbar-Disc Degeneration SnoMedCT:26538006(Degeneration of lumbar intervertebral disc), UMLS:C0263874(C0263874), MedDRA:10024991(Lumbar disc degeneration), MONDO:MONDO:0044339(lumbar disk degenerative disorder) +PA443850 Dehydration Dehydrations MeSH:D003681(Dehydration), SnoMedCT:34095006(Dehydration), UMLS:C0011175(C0011175), MedDRA:10012174(Dehydration), NDFRT:N0000000911(Dehydration [Disease/Finding]), HP:HP:0001944(Dehydration) +PA166123755 delayed graft function Graft Function, Delayed MeSH:D051799(Delayed Graft Function) +PA166328241 deliberate self-harm MedDRA:10012213(Deliberate self-harm), HP:HP:0000742(Self-mutilation) +PA443851 Delirium """Acute brain syndrome"", ""Acute brain syndrome, NOS"", ""Acute organic reaction"", ""Acute psycho-organic syndrome"", ""Delirious"", ""Delirium of Mixed Origin"", ""Delirium, NOS"", ""Delirium, Subacute"", ""Deliriums, Subacute"", ""Mixed Origin Delirium"", ""Mixed Origin Deliriums"", ""OBS - Organic brain syndrome"", ""Organic brain syndrome"", ""Organic brain syndrome, NOS"", ""Subacute Delirium"", ""Subacute Deliriums""" MeSH:D003693(Delirium), SnoMedCT:2776000(Delirium), SnoMedCT:419567006(Delirious), UMLS:C0011206(C0011206), MedDRA:10000685(Acute brain syndrome), NDFRT:N0000000912(Delirium [Disease/Finding]), MONDO:MONDO:0045057(delirium), HP:HP:0031258(Delirium) +PA443853 Dementia """Amentia"", ""Amentias"", ""Degeneration, Frontotemporal Lobar"", ""Degenerations, Frontotemporal Lobar"", ""Dementia, Familial"", ""Dementia, Semantic"", ""Dementias"", ""Dementias, Familial"", ""Dementias, Semantic"", ""Dementias, Senile Paranoid"", ""Familial Dementia"", ""Familial Dementias"", ""Frontotemporal Lobar Degeneration"", ""Frontotemporal Lobar Degenerations"", ""Lobar Degeneration, Frontotemporal"", ""Lobar Degenerations, Frontotemporal"", ""Paranoid Dementia, Senile"", ""Paranoid Dementias, Senile"", ""Semantic Dementia"", ""Semantic Dementias"", ""Senile Paranoid Dementia"", ""Senile Paranoid Dementias""" MeSH:D003704(Dementia), SnoMedCT:52448006(Dementia), UMLS:C0497327(C0497327), MedDRA:10001933(Amentia), NDFRT:N0000000914(Dementia [Disease/Finding]), MONDO:MONDO:0001627(dementia), HP:HP:0000726(Dementia) +PA446098 Dementia, Vascular """Acute Onset Vascular Dementia"", ""Arteriosclerotic Dementia"", ""Arteriosclerotic Dementias"", ""Arteriosclerotic Encephalopathies, Subcortical"", ""Arteriosclerotic Encephalopathy, Subcortical"", ""Binswanger Disease"", ""Binswanger Encephalopathy"", ""Binswanger's Encephalopathy"", ""Chronic Progressive Subcortical Encephalopathy"", ""Dementia, Arteriosclerotic"", ""Dementia, Subcortical Vascular"", ""Dementias, Arteriosclerotic"", ""Dementias, Subcortical Vascular"", ""Dementias, Vascular"", ""Disease, Binswanger"", ""Encephalopathies, Subcortical Arteriosclerotic"", ""Encephalopathy, Binswanger"", ""Encephalopathy, Binswanger's"", ""Encephalopathy, Binswangers"", ""Encephalopathy, Chronic Progressive Subcortical"", ""Encephalopathy, Subcortical Arteriosclerotic"", ""Encephalopathy, Subcortical, Chronic Progressive"", ""Leukoencephalopathies, Subcortical"", ""Leukoencephalopathy, Subcortical"", ""Subcortical Arteriosclerotic Encephalopathies"", ""Subcortical Arteriosclerotic Encephalopathy"", ""Subcortical Encephalopthy, Chronic Progressive"", ""Subcortical Leukoencephalopathies"", ""Subcortical Leukoencephalopathy"", ""Subcortical Vascular Dementia"", ""Subcortical Vascular Dementias"", ""Vascular Dementia"", ""Vascular Dementia, Acute Onset"", ""Vascular Dementia, Subcortical"", ""Vascular Dementias"", ""Vascular Dementias, Subcortical"", ""Vascular dementia""" """MeSH:D015140(Dementia, Vascular)"", ""SnoMedCT:429998004(Vascular dementia)"", ""UMLS:C0011269(C0011269)"", ""MedDRA:10012299(Dementia vascular)"", ""NDFRT:N0000003188(Dementia, Vascular [Disease/Finding])"", ""MONDO:MONDO:0004648(vascular dementia)""" +PA443854 Demyelinating Diseases Demyelinating Disease, Demyelinating Disorder, Demyelinating Disorders, Demyelination, Demyelinations MeSH:D003711(Demyelinating Diseases), UMLS:C0011303(Demyelinating Diseases [Disease/Finding]), NDFRT:N0000000915(Demyelinating Diseases [Disease/Finding]), MONDO:MONDO:0002562(demyelinating disease) +PA446857 Dengue Hemorrhagic Fever """DHF - Dengue haemorrhagic fever"", ""Dengue Shock Syndrome"", ""Dengue haemorrhagic fever"", ""Dengue hemorrhagic fever"", ""Hemorrhagic Fever, Dengue""" MeSH:D019595(Severe Dengue), SnoMedCT:20927009(Dengue hemorrhagic fever), UMLS:C0019100(C0019100), MedDRA:10055776(Dengue haemorrhagic fever), NDFRT:N0000003948(Dengue Hemorrhagic Fever [Disease/Finding]), MONDO:MONDO:0000248(dengue shock syndrome), MONDO:MONDO:0005358(Dengue hemorrhagic fever) +PA443858 Dental Caries """Caries, Dental"", ""Decay, Dental"", ""Dental Decay"", ""Dental White Spot"", ""Dental White Spots"", ""Dental caries NOS"", ""Dental cavity"", ""Dental decay"", ""Saprodontia"", ""Spot, White"", ""Spots, White"", ""Teeth decayed"", ""Tooth caries"", ""Tooth decay"", ""White Spot"", ""White Spot, Dental"", ""White Spots"", ""White Spots, Dental""" MeSH:D003731(Dental Caries), SnoMedCT:196307002(Dental caries NOS), SnoMedCT:80967001(Dental caries), UMLS:C0011334(C0011334), MedDRA:10007666(Caries dental), NDFRT:N0000000919(Dental Caries [Disease/Finding]), MONDO:MONDO:0005276(dental caries) +PA447278 Depression MeSH:D003863(Depression), SnoMedCT:307537002(Depression NOS), UMLS:C0011570(C0011570), MedDRA:10012377(Depressed state), HP:HP:0000716(Depression) +PA447207 Depressive Disorder Depression MeSH:D003866(Depressive Disorder), SnoMedCT:35489007(Depressive disorder), UMLS:C0011581(C0011581), MedDRA:10012399(Depressive disorder), NDFRT:N0000000938(Depressive Disorder [Disease/Finding]), MONDO:MONDO:0002050(depressive disorder), MONDO:MONDO:0005379(neurotic disorder) +PA443875 Dermatitis Dermatitides, Dermatitis NOS, Inflammation of skin MeSH:D003872(Dermatitis), SnoMedCT:182782007(Dermatitis), SnoMedCT:200884006(Dermatitis NOS), SnoMedCT:267856007(Skin inflammation NOS), UMLS:C0011603(C0011603), MedDRA:10012431(Dermatitis), NDFRT:N0000000939(Dermatitis [Disease/Finding]), MONDO:MONDO:0002406(dermatitis) +PA446488 Dermatitis, Allergic Contact """ACD - Allergic contact dermatitis"", ""Allergic Contact Dermatitides"", ""Allergic Contact Dermatitis"", ""Allergic Eczematous Dermatitides"", ""Allergic Eczematous Dermatitis"", ""Allergic contact dermatitis"", ""Contact Dermatitides, Allergic"", ""Contact Dermatitis, Allergic"", ""Dermatitides, Allergic Contact"", ""Dermatitides, Allergic Eczematous"", ""Dermatitis, Allergic Eczematous"", ""Dermatitis, Contact, Allergic"", ""Eczematous Dermatitides, Allergic"", ""Eczematous Dermatitis, Allergic""" """MeSH:D017449(Dermatitis, Allergic Contact)"", ""SnoMedCT:238575004(Allergic contact dermatitis)"", ""UMLS:C0162820(C0162820)"", ""MedDRA:10056265(Allergic contact dermatitis)"", ""NDFRT:N0000003579(Dermatitis, Allergic Contact [Disease/Finding])"", ""MONDO:MONDO:0006525(allergic contact dermatitis)""" +PA443880 Dermatitis, Contact """Contact Dermatitides"", ""Contact Dermatitis"", ""Contact Eczema"", ""Contact Hypersensitivities"", ""Contact Hypersensitivity"", ""Contact Sensitivities"", ""Contact Sensitivity"", ""Contact dermatitis"", ""Contact dermatitis NOS"", ""Contact dermatitis, NOS"", ""Contact eczema"", ""Dermatitides, Contact"", ""Dermatitis Venenata"", ""Dermatitis venenata"", ""Eczema, Contact"", ""Hypersensitivities, Contact"", ""Hypersensitivity, Contact"", ""Sensitivities, Contact"", ""Sensitivity, Contact""" """MeSH:D003877(Dermatitis, Contact)"", ""SnoMedCT:200883000(Contact dermatitis NOS)"", ""SnoMedCT:40275004(Contact dermatitis)"", ""UMLS:C0011616(C0011616)"", ""MedDRA:10010789(Contact dematitis)"", ""NDFRT:N0000000944(Dermatitis, Contact [Disease/Finding])"", ""MONDO:MONDO:0005480(contact dermatitis)"", ""HP:HP:0032282(Contact dermatitis)""" +PA443876 Dermatitis, Exfoliative """Dermatitides, Exfoliative"", ""Dermatitis Exfoliativa"", ""Erythroderma"", ""Erythrodermas"", ""Erythrodermatitis"", ""Erythrodermic eczema"", ""Exfoliative Dermatitides"", ""Exfoliative Dermatitis"", ""Exfoliative dermatitis"", ""Generalised erythroderma"", ""Generalised exfoliative dermatitis"", ""Generalized erythroderma"", ""Generalized exfoliative dermatitis"", ""Pityriasis rubra of Hebra""" """MeSH:D003873(Dermatitis, Exfoliative)"", ""SnoMedCT:200948000(Pityriasis rubra)"", ""SnoMedCT:396349005(Generalised erythroderma)"", ""SnoMedCT:396350005(Generalised exfoliative dermatitis)"", ""SnoMedCT:399992009(Erythroderma)"", ""SnoMedCT:400005007(Erythrodermic eczema)"", ""UMLS:C0011606(C0011606)"", ""MedDRA:10012455(Dermatitis exfoliative)"", ""NDFRT:N0000000940(Dermatitis, Exfoliative [Disease/Finding])"", ""MONDO:MONDO:0043233(exfoliative dermatitis)""" +PA443877 Dermatitis Herpetiformis """DH - Dermatitis herpetiformis"", ""Dermatitis herpetiformis"", ""Dermatosis herpetiformis"", ""Disease, Duhring"", ""Disease, Duhring's"", ""Duhring Disease"", ""Duhring's Disease"", ""Duhring-Brocq disease"", ""Duhrings Disease""" MeSH:D003874(Dermatitis Herpetiformis), SnoMedCT:111196000(Dermatitis herpetiformis), UMLS:C0011608(C0011608), MedDRA:10012468(Dermatitis herpetiformis), NDFRT:N0000000941(Dermatitis Herpetiformis [Disease/Finding]), MONDO:MONDO:0015614(dermatitis herpetiformis) +PA446359 Diabetes, Gestational """Diabetes Mellitus, Gestational"", ""Diabetes mellitus arising in pregnancy"", ""Diabetes, Pregnancy Induced"", ""Diabetes, Pregnancy-Induced"", ""GDM"", ""GDM - Gestational diabetes mellitus"", ""Gestational Diabetes"", ""Gestational Diabetes Mellitus"", ""Gestational diabetes"", ""Gestational diabetes mellitus"", ""Gestational diabetes mellitus, NOS"", ""Maternal gestational diabetes mellitus"", ""Pregnancy-Induced Diabetes""" """MeSH:D016640(Diabetes, Gestational)"", ""SnoMedCT:11687002(Gestational diabetes mellitus)"", ""UMLS:C0085207(C0085207)"", ""MedDRA:10012606(Diabetes mellitus gestational)"", ""NDFRT:N0000003450(Diabetes, Gestational [Disease/Finding])"", ""MONDO:MONDO:0005406(gestational diabetes)"", ""cpgxTags:pgkbTags:1452102240(Maternal Health)""" +PA443885 Diabetes Insipidus Diabetes insipidus MeSH:D003919(Diabetes Insipidus), SnoMedCT:15771004(Diabetes insipidus), UMLS:C0011848(C0011848), MedDRA:10012599(Diabetes insipidus), NDFRT:N0000000949(Diabetes Insipidus [Disease/Finding]), MONDO:MONDO:0004782(diabetes insipidus), HP:HP:0000873(Diabetes insipidus) +PA446742 Diabetes Insipidus, Nephrogenic NDI - Nephrogenic diabetes insipidus, Nephrogenic Diabetes Insipidus, Nephrogenic diabetes insipidus """MeSH:D018500(Diabetes Insipidus, Nephrogenic)"", ""SnoMedCT:111395007(Nephrogenic diabetes insipidus)"", ""UMLS:C0162283(C0162283)"", ""MedDRA:10012600(Diabetes insipidus nephrogenic)"", ""NDFRT:N0000003831(Diabetes Insipidus, Nephrogenic [Disease/Finding])"", ""MONDO:MONDO:0016383(nephrogenic diabetes insipidus)"", ""HP:HP:0009806(Nephrogenic diabetes insipidus)""" +PA443886 Diabetes Mellitus Diabetes, Diabetes mellitus MeSH:D003920(Diabetes Mellitus), SnoMedCT:73211009(Diabetes mellitus), UMLS:C0011849(C0011849), MedDRA:10012594(Diabetes), NDFRT:N0000000950(Diabetes Mellitus [Disease/Finding]), MONDO:MONDO:0005015(diabetes mellitus), HP:HP:0000819(Diabetes mellitus) +PA443888 Diabetes Mellitus, Type 1 """Autoimmune Diabetes"", ""Brittle Diabetes Mellitus"", ""Diabetes Mellitus, Brittle"", ""Diabetes Mellitus, Insulin Dependent"", ""Diabetes Mellitus, Insulin-Dependent"", ""Diabetes Mellitus, Juvenile Onset"", ""Diabetes Mellitus, Juvenile-Onset"", ""Diabetes Mellitus, Ketosis Prone"", ""Diabetes Mellitus, Ketosis-Prone"", ""Diabetes Mellitus, Sudden Onset"", ""Diabetes Mellitus, Sudden-Onset"", ""Diabetes Mellitus, Type 1"", ""Diabetes Mellitus, Type I"", ""Diabetes mellitus type 1"", ""Diabetes mellitus type I"", ""Diabetes, Autoimmune"", ""IDDM"", ""IDDM - Insulin-dependent diabetes mellitus"", ""Insulin dependent diabetes mellitus"", ""Insulin-Dependent Diabetes Mellitus"", ""Insulin-dependent diabetes mellitus"", ""Juvenile-Onset Diabetes Mellitus"", ""Ketosis-Prone Diabetes Mellitus"", ""Mellitus, Sudden-Onset Diabetes"", ""Sudden-Onset Diabetes Mellitus"", ""Type 1 diabetes mellitus"", ""Type I diabetes mellitus""" """MeSH:D003922(Diabetes Mellitus, Type 1)"", ""SnoMedCT:46635009(Diabetes mellitus type 1)"", ""UMLS:C0011854(C0011854)"", ""MedDRA:10012608(Diabetes mellitus insulin-dependent)"", ""NDFRT:N0000000952(Diabetes Mellitus, Type 1 [Disease/Finding])"", ""MONDO:MONDO:0005147(type 1 diabetes mellitus)""" +PA443890 Diabetes Mellitus, Type 2 """Adult-Onset Diabetes Mellitus"", ""Diabetes Mellitus, Adult Onset"", ""Diabetes Mellitus, Adult-Onset"", ""Diabetes Mellitus, Ketosis Resistant"", ""Diabetes Mellitus, Ketosis-Resistant"", ""Diabetes Mellitus, Maturity Onset"", ""Diabetes Mellitus, Maturity-Onset"", ""Diabetes Mellitus, Non Insulin Dependent"", ""Diabetes Mellitus, Non-Insulin-Dependent"", ""Diabetes Mellitus, Noninsulin Dependent"", ""Diabetes Mellitus, Slow Onset"", ""Diabetes Mellitus, Slow-Onset"", ""Diabetes Mellitus, Stable"", ""Diabetes Mellitus, Type 2"", ""Diabetes Mellitus, Type II"", ""Diabetes mellitus - adult onset"", ""Diabetes mellitus type 2"", ""Diabetes mellitus type II"", ""Ketosis-Resistant Diabetes Mellitus"", ""MODY"", ""Maturity Onset Diabetes Mellitus"", ""Maturity onset diabetes mellitus"", ""Maturity-Onset Diabetes Mellitus"", ""NIDDM"", ""NIDDM (non insulin dependent diabetes mellitus)"", ""NIDDM - Non-insulin dependent diabetes mellitus"", ""Non-Insulin-Dependent Diabetes Mellitus"", ""Non-insulin-dependent diabetes mellitus"", ""Slow-Onset Diabetes Mellitus"", ""Stable Diabetes Mellitus"", ""Type II diabetes mellitus"", ""diabete metillus""" """MeSH:D003924(Diabetes Mellitus, Type 2)"", ""SnoMedCT:44054006(Diabetes mellitus type 2)"", ""UMLS:C0011860(C0011860)"", ""MedDRA:10012611(Diabetes mellitus maturity onset)"", ""NDFRT:N0000000954(Diabetes Mellitus, Type 2 [Disease/Finding])"", ""MONDO:MONDO:0005148(type 2 diabetes mellitus)""" +PA443891 Diabetic Angiopathies """Angiopathies, Diabetic"", ""Angiopathy, Diabetic"", ""Diabetic Angiopathy"", ""Diabetic Microangiopathies"", ""Diabetic Microangiopathy"", ""Microangiopathies, Diabetic"", ""Microangiopathy, Diabetic""" MeSH:D003925(Diabetic Angiopathies), UMLS:C0011875(Diabetic Angiopathies [Disease/Finding]), NDFRT:N0000000955(Diabetic Angiopathies [Disease/Finding]), MONDO:MONDO:0000960(diabetic peripheral angiopathy) +PA446408 Diabetic Ketoacidosis """Acidoses, Diabetic"", ""Acidosis, Diabetic"", ""Diabetes mellitus with ketoacidosis"", ""Diabetic Acidoses"", ""Diabetic Acidosis"", ""Diabetic Ketoacidoses"", ""Diabetic Ketoses"", ""Diabetic Ketosis"", ""Diabetic acidosis"", ""Diabetic ketoacidosis"", ""Ketoacidoses, Diabetic"", ""Ketoacidosis in diabetes mellitus"", ""Ketoacidosis, Diabetic"", ""Ketoses, Diabetic"", ""Ketosis, Diabetic""" MeSH:D016883(Diabetic Ketoacidosis), SnoMedCT:190328004(Diabetes mellitus NOS with ketoacidosis), SnoMedCT:420422005(Diabetic ketoacidosis), UMLS:C0011880(C0011880), MedDRA:10000488(Acidosis diabetic), NDFRT:N0000003499(Diabetic Ketoacidosis [Disease/Finding]), MONDO:MONDO:0012819(diabetic ketoacidosis), HP:HP:0001953(Diabetic ketoacidosis) +PA443893 Diabetic Nephropathies """Diabetes-nephrosis syndrome"", ""Diabetic Glomeruloscleroses"", ""Diabetic Glomerulosclerosis"", ""Diabetic Nephropathy"", ""Diabetic nephropathy"", ""Diabetic renal disease"", ""Glomeruloscleroses, Diabetic"", ""Glomerulosclerosis, Diabetic"", ""Nephropathies, Diabetic"", ""Nephropathy, Diabetic"", ""Nephrotic syndrome in diabetes mellitus"", ""Renal disorder associated with diabetes mellitus""" MeSH:D003928(Diabetic Nephropathies), SnoMedCT:127013003(Diabetic renal disease), SnoMedCT:197605007(Nephrotic syndrome in diabetes mellitus), SnoMedCT:54181000(Diabetes-nephrosis syndrome), UMLS:C0011881(C0011881), MedDRA:10012638(Diabetes with renal manifestations), NDFRT:N0000000957(Diabetic Nephropathies [Disease/Finding]), MONDO:MONDO:0005016(diabetic kidney disease) +PA443894 Diabetic Neuropathies """Amyotrophies, Diabetic"", ""Amyotrophy, Diabetic"", ""Asymmetric Diabetic Proximal Motor Neuropathy"", ""Asymmetric Polyneuropathies, Diabetic"", ""Asymmetric Polyneuropathy, Diabetic"", ""Autonomic Neuropathies, Diabetic"", ""Autonomic Neuropathy, Diabetic"", ""Diabetes mellitus with neuropathy"", ""Diabetic Amyotrophies"", ""Diabetic Amyotrophy"", ""Diabetic Asymmetric Polyneuropathies"", ""Diabetic Asymmetric Polyneuropathy"", ""Diabetic Autonomic Neuropathies"", ""Diabetic Autonomic Neuropathy"", ""Diabetic Mononeuropathies"", ""Diabetic Mononeuropathy"", ""Diabetic Mononeuropathy Simplex"", ""Diabetic Mononeuropathy Simplices"", ""Diabetic Neuralgia"", ""Diabetic Neuralgias"", ""Diabetic Neuropathies, Painful"", ""Diabetic Neuropathy"", ""Diabetic Neuropathy, Painful"", ""Diabetic Polyneuropathies"", ""Diabetic Polyneuropathy"", ""Mononeuropathies, Diabetic"", ""Mononeuropathy Simplex, Diabetic"", ""Mononeuropathy Simplices, Diabetic"", ""Mononeuropathy, Diabetic"", ""Neuralgia, Diabetic"", ""Neuralgias, Diabetic"", ""Neuropathies, Diabetic"", ""Neuropathies, Diabetic Autonomic"", ""Neuropathies, Painful Diabetic"", ""Neuropathy, Diabetic"", ""Neuropathy, Diabetic Autonomic"", ""Neuropathy, Painful Diabetic"", ""Painful Diabetic Neuropathies"", ""Painful Diabetic Neuropathy"", ""Polyneuropathies, Diabetic"", ""Polyneuropathies, Diabetic Asymmetric"", ""Polyneuropathy, Diabetic"", ""Polyneuropathy, Diabetic Asymmetric"", ""Simplex, Diabetic Mononeuropathy"", ""Simplices, Diabetic Mononeuropathy"", ""Symmetric Diabetic Proximal Motor Neuropathy""" MeSH:D003929(Diabetic Neuropathies), SnoMedCT:190353001(Diabetes mellitus NOS with neurological manifestation), SnoMedCT:230572002(Diabetic neuropathy), UMLS:C0011882(C0011882), MedDRA:10012680(Diabetic neuropathy), NDFRT:N0000000958(Diabetic Neuropathies [Disease/Finding]), MONDO:MONDO:0006626(diabetic neuropathy) +PA443895 Diabetic Retinopathy """DR"", ""DR - Diabetic retinopathy"", ""Diabetic Retinopathies"", ""Retinal abnormality - diabetes-related"", ""Retinopathies, Diabetic"", ""Retinopathy, Diabetic""" MeSH:D003930(Diabetic Retinopathy), SnoMedCT:193353002(Diabetic retinopathy NOS), SnoMedCT:4855003(Diabetic retinopathy), UMLS:C0011884(C0011884), MedDRA:10012689(Diabetic retinopathy), NDFRT:N0000000959(Diabetic Retinopathy [Disease/Finding]), MONDO:MONDO:0005266(diabetic retinopathy) +PA443899 Diarrhea Diarrhea symptom NOS, Diarrhea symptoms, Diarrheas, Diarrhoea symptom NOS, Diarrhoea symptoms, LS - Loose stools, Loose bowel motions, Loose bowel movement, Loose faeces, Loose feces, Loose motion, Loose stool, Loose stools, [D] Stools loose MeSH:D003967(Diarrhea), SnoMedCT:207145000([D] Stools loose), SnoMedCT:267060006(Diarrhea symptom), SnoMedCT:267061005(Diarrhea symptom NOS), SnoMedCT:398032003(Loose stool), SnoMedCT:62315008(Diarrhea), UMLS:C0011991(C0011991), MedDRA:10012727(Diarrhea), NDFRT:N0000000963(Diarrhea [Disease/Finding]), MONDO:MONDO:0001673(diarrheal disease), HP:HP:0002014(Diarrhea) +PA166128187 diastolic blood pressure DAP - Diastolic arterial pressure, DBP - Diastolic blood pressure, Diastolic arterial pressure, Diastolic blood pressure (observable entity) SnoMedCT:271650006(Diastolic blood pressure) +PA443907 DiGeorge Syndrome """Agenesis of the parathyroid and thymus glands"", ""DiGeorge anomaly"", ""DiGeorge sequence"", ""Syndrome, DiGeorge"", ""Third and fourth pharyngeal arch syndrome"", ""Thymic-parathyroid aplasia""" MeSH:D004062(DiGeorge Syndrome), SnoMedCT:77128003(DiGeorge sequence), UMLS:C0012236(C0012236), MedDRA:10012979(DiGeorge's syndrome), NDFRT:N0000000971(DiGeorge Syndrome [Disease/Finding]), MONDO:MONDO:0008564(DiGeorge syndrome), MONDO:MONDO:0008644(velocardiofacial syndrome) +PA166264221 Diminished ability to concentrate Concentration ability SnoMedCT:247760006(Ability to concentrate), HP:HP:0031987(Diminished ability to concentrate) +PA443915 Diplopia """Cortical Diplopia"", ""Cortical Diplopias"", ""Diplopia, Cortical"", ""Diplopia, Horizontal"", ""Diplopia, Intermittent"", ""Diplopia, Monocular"", ""Diplopia, Refractive"", ""Diplopia, Unilateral"", ""Diplopia, Vertical"", ""Diplopias"", ""Diplopias, Cortical"", ""Diplopias, Horizontal"", ""Diplopias, Intermittent"", ""Diplopias, Monocular"", ""Diplopias, Refractive"", ""Diplopias, Unilateral"", ""Diplopias, Vertical"", ""Double Vision"", ""Double vision"", ""Horizontal Diplopia"", ""Horizontal Diplopias"", ""Intermittent Diplopia"", ""Intermittent Diplopias"", ""Monocular Diplopia"", ""Monocular Diplopias"", ""Polyopsia"", ""Polyopsias"", ""Refractive Diplopia"", ""Refractive Diplopias"", ""Seeing double"", ""Unilateral Diplopia"", ""Unilateral Diplopias"", ""Vertical Diplopia"", ""Vertical Diplopias"", ""Vision, Double""" MeSH:D004172(Diplopia), SnoMedCT:24982008(Diplopia), UMLS:C0012569(C0012569), MedDRA:10013036(Diplopia), NDFRT:N0000000979(Diplopia [Disease/Finding]), HP:HP:0000651(Diplopia) +PA444821 Discoid lupus erythematosus """CDLE - Chronic discoid lupus erythematosus"", ""Chronic discoid lupus erythematosus"", ""DLE - Discoid lupus erythematosus"", ""Discoid Lupus Erythematosus"", ""Discoid lupus erythematosus"", ""LE - Discoid lupus erythematosus"", ""Lupus Erythematosus, Chronic Cutaneous"", ""Lupus Erythematosus, Cutaneous, Chronic""" """MeSH:D008179(Lupus Erythematosus, Discoid)"", ""SnoMedCT:200938002(Discoid lupus erythematosus)"", ""SnoMedCT:238927000(Chronic discoid lupus erythematosus)"", ""UMLS:C0024138(C0024138)"", ""MedDRA:10057929(Chronic cutaneous lupus erythematosus)"", ""NDFRT:N0000001886(Lupus Erythematosus, Discoid [Disease/Finding])"", ""MONDO:MONDO:0015574(chronic cutaneous lupus erythematosus)"", ""MONDO:MONDO:0019558(discoid lupus erythematosus)""" +PA166123507 Discontinuation Discontinuation (situation), Pharmacotherapy Discontinuation, Therapy cessation, Treatment discontinuation, stop of medication SnoMedCT:278308006(Discontinuation), MedDRA:10065154(Therapy cessation) +PA166048918 Discrete Subaortic Stenosis NDFRT:N0000004248(Discrete Subaortic Stenosis), MONDO:MONDO:0006729(discrete subaortic stenosis) +PA166129556 Disease activity score 28 in rheumatoid arthritis DAS (disease activity score) 28 joint in rheumatoid arthritis, DAS-28, Disease activity score 28 joint in rheumatoid arthritis (assessment scale) SnoMedCT:443728000(Disease activity score 28 joint in rheumatoid arthritis) +PA446728 Disease Progression """Course of illness"", ""Disease Progressions"", ""Progression, Disease"", ""Progressions, Disease""" MeSH:D018450(Disease Progression), SnoMedCT:246453008(Course of illness), UMLS:C0242656(C0242656), MedDRA:10061818(Disease progression), NDFRT:N0000003817(Disease Progression [Disease/Finding]) +PA446836 Disorder of facial skeleton """Abnormalities, Craniofacial"", ""Abnormality, Craniofacial"", ""Craniofacial Abnormality""" MeSH:D019465(Craniofacial Abnormalities), UMLS:C0376634(Craniofacial Abnormalities [Disease/Finding]), NDFRT:N0000003927(Craniofacial Abnormalities [Disease/Finding]), MONDO:MONDO:0015411(facial cleft), MONDO:MONDO:0023369(disorder of facial skeleton) +PA153627690 Disorder of glycogen metabolism Muscle Glycogen Storage Disease 0, Muscle Glycogen Synthase Deficiency MeSH:D006008(Glycogen Storage Disease), MONDO:MONDO:0002412(disorder of glycogen metabolism) +PA443922 Disseminated Intravascular Coagulation """Coagulation, Disseminated Intravascular"", ""Coagulation, Intravascular Disseminated"", ""Coagulations, Disseminated Intravascular"", ""Coagulations, Intravascular Disseminated"", ""Coagulopathies, Consumption"", ""Coagulopathy, Consumption"", ""Consumption Coagulopathies"", ""Consumption Coagulopathy"", ""Consumptive coagulopathy"", ""Consumptive thrombohemorrhagic disorder"", ""DIC - Disseminated intravascular coagulation"", ""Disseminated Coagulation, Intravascular"", ""Disseminated Coagulations, Intravascular"", ""Disseminated Intravascular Coagulations"", ""Intravascular Coagulation, Disseminated"", ""Intravascular Coagulations, Disseminated"", ""Intravascular Disseminated Coagulation"", ""Intravascular Disseminated Coagulations""" MeSH:D004211(Disseminated Intravascular Coagulation), SnoMedCT:67406007(Disseminated intravascular coagulation), UMLS:C0012739(C0012739), MedDRA:10010785(Consumption coagulopathy), NDFRT:N0000000985(Disseminated Intravascular Coagulation [Disease/Finding]), MONDO:MONDO:0001243(disseminated intravascular coagulation), HP:HP:0005521(Disseminated intravascular coagulation) +PA443928 Dizziness Dizzyness, Light Headedness, Light-Headedness, Lightheadedness, Orthostasis, [D]Dizziness MeSH:D004244(Dizziness), SnoMedCT:206740007([D]Dizziness), SnoMedCT:404640003(Dizziness), UMLS:C0012833(C0012833), MedDRA:10013573(Dizziness), NDFRT:N0000000992(Dizziness [Disease/Finding]), HP:HP:0002321(Vertigo) +PA166159953 Dose reduction Dose Reduced, Drug Tapering MeSH:D000084862(Drug Tapering) +PA145007152 Dowling-Degos Disease MeSH:C562924(Dowling-Degos Disease), MONDO:MONDO:0008371(Dowling-Degos disease), MONDO:MONDO:0014234(reticulate acropigmentation of Kitamura) +PA443933 Down Syndrome """Complete trisomy 21 syndrome"", ""Down Syndrome, Partial Trisomy 21"", ""Down syndrome"", ""Down's Syndrome"", ""Down's syndrome NOS"", ""Downs Syndrome"", ""Mongolism"", ""Partial Trisomy 21 Down Syndrome"", ""Syndrome, Down"", ""Syndrome, Down's"", ""T21 - Trisomy 21"", ""Trisomy 21"", ""Trisomy 21 NOS"", ""Trisomy 21, Meiotic Nondisjunction"", ""Trisomy 21, Mitotic Nondisjunction""" MeSH:D004314(Down Syndrome), SnoMedCT:254263008(Down's syndrome NOS), SnoMedCT:41040004(Complete trisomy 21 syndrome), UMLS:C0013080(C0013080), MedDRA:10013616(Down's syndrome), NDFRT:N0000000996(Down Syndrome [Disease/Finding]), MONDO:MONDO:0008608(Down syndrome) +PA166048928 Dracunculiasis NDFRT:N0000000997(Dracunculiasis), MONDO:MONDO:0016472(dracunculiasis) +PA166285721 drug dosage altered Dose Adjustment, Drug dosage altered (finding) SnoMedCT:182877009(Drug dosage altered) +PA166279841 drug-drug pharmacokinetic interaction MedDRA:10065994(Drug-drug pharmacokinetic interaction) +PA443936 Drug Hypersensitivity """Allergic drug reaction"", ""Allergic reaction to drug"", ""Allergies, Drug"", ""Allergy to drug"", ""Allergy, Drug"", ""Drug Allergies"", ""Drug Allergy"", ""Drug Hypersensitivities"", ""Drug allergy"", ""Hypersensitivities, Drug"", ""Hypersensitivity, Drug""" MeSH:D004342(Drug Hypersensitivity), SnoMedCT:269283009(Drug hypersensitivity NOS), SnoMedCT:416093006(Allergic reaction to drug), SnoMedCT:416098002(Drug allergy), UMLS:C0013182(C0013182), MedDRA:10013661(Drug allergy), NDFRT:N0000000999(Drug Hypersensitivity [Disease/Finding]), MONDO:MONDO:0000775(drug allergy) +PA165108527 Drug-induced chronic hepatitis """MeSH:D056487(Chemical and Drug Induced Liver Injury, Chronic)"", ""SnoMedCT:235889003(Drug-induced chronic hepatitis)"", ""UMLS:C0524912(C0524912)"", ""MONDO:MONDO:0002184(drug-induced hepatitis)""" +PA166119041 Drug-induced liver injury DILI, Drug induced liver injury, Drug-induced hepatotoxicity MeSH:D056486(Chemical and Drug Induced Liver Injury), SnoMedCT:427399008(Drug-induced disorder of liver), MedDRA:10072937(Drug-induced hepatotoxicity), MONDO:MONDO:0005359(drug-induced liver injury) +PA166205041 drug-induced lupus erythematosus due to hydralazine Drug-induced lupus erythematosus caused by hydralazine (disorder) SnoMedCT:54912002(Drug-induced lupus erythematosus due to hydralazine) +PA165108622 Drug interaction with drug DDI, Drug drug interaction, drug-drug interactions MeSH:D004347(Drug Interactions), SnoMedCT:404204005(Drug interaction with drug), UMLS:C0687133(C0687133), MedDRA:10013710(Drug interaction) +PA165108814 Drug interaction with food Food interaction with drug MeSH:D018565(Food-Drug Interactions), SnoMedCT:95907004(Drug interaction with food), UMLS:C0242785(C0242785), MedDRA:10013653(Drug - food interaction) +PA165108688 Drug psychosis Drug-induced psychosis, Substance-induced psychotic disorder """MeSH:D011605(Psychoses, Substance-Induced)"", ""SnoMedCT:191483003(Drug-induced psychosis)"", ""MedDRA:10045855(Substance-induced psychotic disorder)"", ""MONDO:MONDO:0006730(drug psychosis)""" +PA166120927 Drug Reaction with Eosinophilia and Systemic Symptoms DRESS Syndrome, drug rash with eosinophilia and systemic symptoms MedDRA:10073508(10073508), MONDO:MONDO:0015340(drug rash with eosinophilia and systemic symptoms) +PA165111675 Drug Resistance UMLS:C0013203(Drug resistance), MedDRA:10059866(Drug resistance), HP:HP:0020174(Refractory drug response) +PA443937 Drug Toxicity """Drug Toxicities"", ""Drug and medicament poisoning NOS"", ""Drug poisoning"", ""Intoxication by drug"", ""Medicament poisoning"", ""Medicinal poisoning"", ""Overdose of drug with toxic effect"", ""Poisoning by drug or medicinal substance, NEC"", ""Therapeutic agent toxicity"", ""Toxicities"", ""Toxicities, Drug"", ""Toxicity"", ""Toxicity, Drug""" MeSH:D064420(Drug-Related Side Effects and Adverse Reactions), SnoMedCT:212791001(Drug and medicament poisoning NOS), SnoMedCT:269410003(Poisoning by medicaments NOS), SnoMedCT:7895008(Poisoning by drug AND/OR medicinal substance), UMLS:C0013221(C0013221), MedDRA:10056943(Drug poisoning), NDFRT:N0000001000(Drug Toxicity [Disease/Finding]) +PA166115462 Dry mouth """Absent salivary secretion"", ""Aptyalia"", ""Asialia"", ""Asialias"", ""Dryness, Mouth"", ""Hyposalivation"", ""Hyposalivations"", ""Hyposecretion of salivary gland"", ""Mouth Dryness"", ""Xerostomias""" MeSH:D014987(Xerostomia), SnoMedCT:139281004(Dry mouth), SnoMedCT:56893005(Hyposecretion of salivary gland), SnoMedCT:87715008(Aptyalism), UMLS:C0043352(C0043352), MedDRA:10050239(Aptyalia), NDFRT:N0000003179(Xerostomia [Disease/Finding]), HP:HP:0000217(Xerostomia) +PA443939 Duane Retraction Syndrome """Duane Retraction Syndrome, Type 1"", ""Duane Retraction Syndrome, Type 2"", ""Duane Retraction Syndrome, Type 3"", ""Duane Syndrome"", ""Duane's Syndrome"", ""Duane's retraction syndrome"", ""Duanes Syndrome"", ""Ocular Retraction Syndrome"", ""Ocular Retraction Syndromes"", ""Okihiro Syndrome"", ""Retraction Syndromes, Ocular"", ""Syndrome, Duane"", ""Syndrome, Duane's"", ""Syndrome, Okihiro"", ""Type 1 Duane Retraction Syndrome"", ""Type 2 Duane Retraction Syndrome"", ""Type 3 Duane Retraction Syndrome""" MeSH:D004370(Duane Retraction Syndrome), SnoMedCT:60318001(Duane's syndrome), UMLS:C0013261(C0013261), MedDRA:10013799(Duane's syndrome), NDFRT:N0000001002(Duane Retraction Syndrome [Disease/Finding]), MONDO:MONDO:0007473(Duane retraction syndrome) +PA166307601 Dubin-Johnson syndrome SnoMedCT:44553005(Dubin-Johnson syndrome), MedDRA:10013800(Dubin-Johnson syndrome), MONDO:MONDO:0009380(Dubin-Johnson syndrome) +PA447025 Duchenne Muscular Dystrophy """Becker Muscular Dystrophy"", ""Childhood Muscular Dystrophy, Pseudohypertrophic"", ""Childhood Pseudohypertrophic Muscular Dystrophy"", ""DMD - Duchenne muscular dystrophy"", ""Duchenne Muscular Dystrophy"", ""Duchenne Type Progressive Muscular Dystrophy"", ""Duchenne-Type Progressive Muscular Dystrophy"", ""Dystrophies, Pseudohypertrophic Muscular"", ""Dystrophy, Becker Muscular"", ""Dystrophy, Duchenne Muscular"", ""Dystrophy, Pseudohypertrophic Muscular"", ""Muscular Dystrophies, Pseudohypertrophic"", ""Muscular Dystrophy, Becker"", ""Muscular Dystrophy, Childhood, Pseudohypertrophic"", ""Muscular Dystrophy, Pseudohypertrophic"", ""Muscular Dystrophy, Pseudohypertrophic, Childhood"", ""Progressive Muscular Dystrophy, Duchenne Type"", ""Pseudohypertrophic Childhood Muscular Dystrophy"", ""Pseudohypertrophic Muscular Dystrophies"", ""Pseudohypertrophic Muscular Dystrophy"", ""Pseudohypertrophic Muscular Dystrophy, Childhood"", ""Pseudohypertrophic muscular dystrophy""" """MeSH:D020388(Muscular Dystrophy, Duchenne)"", ""SnoMedCT:76670001(Duchenne muscular dystrophy)"", ""UMLS:C0013264(C0013264)"", ""MedDRA:10013801(Duchenne muscular dystrophy)"", ""NDFRT:N0000004131(Muscular Dystrophy, Duchenne [Disease/Finding])"", ""MONDO:MONDO:0010679(Duchenne muscular dystrophy)""" +PA166048795 Duodenal Obstruction NDFRT:N0000001007(Duodenal Obstruction), MONDO:MONDO:0002688(duodenal obstruction) +PA443945 Duodenal Ulcer """Common duodenal ulcer"", ""Curling Ulcer"", ""Curling's Ulcer"", ""Curlings Ulcer"", ""Duodenal Ulcers"", ""Duodenal ulcer NOS"", ""Ulcer, Curling's"", ""Ulcer, Duodenal"", ""Ulcers, Duodenal"", ""Unspecified duodenal ulcer"", ""Unspecified duodenal ulcer NOS""" MONDO:MONDO:0005412(duodenal ulcer), HP:HP:0002588(Duodenal ulcer) +PA443949 Dwarfism """Constitutional dwarfism"", ""Constitutional short stature"", ""Dwarf"", ""Mulibrey Nanism"", ""Nanism"", ""Nanism, Mulibrey"", ""Nanosoma"", ""Nanosomia"", ""Normal dwarf"", ""Normal dwarfism"", ""Physiologic dwarfism"", ""Primordial dwarf"", ""Primordial dwarfism"", ""Pure dwarf"", ""SS - Short stature"", ""Short stature disorder"", ""Small stature"", ""True dwarfism""" MeSH:D004392(Dwarfism), SnoMedCT:185797004(True dwarfism), SnoMedCT:237836003(Dwarfism), SnoMedCT:237837007(Primordial dwarfism), SnoMedCT:422065006(Constitutional short stature), UMLS:C0013336(C0013336), MedDRA:10013881(Dwarf), NDFRT:N0000001012(Dwarfism [Disease/Finding]), HP:HP:0003510(Severe short stature) +PA443950 Dwarfism, Pituitary """Dwarf, Hypophysial"", ""Dwarf, Pituitary"", ""Dwarfism, Growth Hormone Deficiency"", ""Dwarfism, Hyposomatotrophic"", ""Growth Hormone Deficiency Dwarfism"", ""Hypophysial Dwarf"", ""Hypophysial Dwarfs"", ""Hyposomatotrophic Dwarfism"", ""Nanism, Pituitary"", ""Pituitary Dwarf"", ""Pituitary Dwarfism"", ""Pituitary Dwarfs"", ""Pituitary Nanism"", ""Pituitary dwarfism NOS"", ""Prepuberal dwarfism""" """MeSH:D004393(Dwarfism, Pituitary)"", ""SnoMedCT:190478003(Pituitary dwarfism NOS)"", ""SnoMedCT:367460001(Pituitary dwarfism)"", ""UMLS:C0013338(C0013338)"", ""MedDRA:10035083(Pituitary dwarfism)"", ""NDFRT:N0000001013(Dwarfism, Pituitary [Disease/Finding])"", ""MONDO:MONDO:0000050(isolated congenital growth hormone deficiency)"", ""MONDO:MONDO:0006909(pituitary dwarfism)"", ""HP:HP:0000839(Pituitary dwarfism)""" +PA443951 Dysarthria """Dysarthoses"", ""Dysarthosis"", ""Dysarthria, Flaccid"", ""Dysarthria, Gutteral"", ""Dysarthria, Mixed"", ""Dysarthria, Scanning"", ""Dysarthria, Spastic"", ""Dysarthrias"", ""Dysarthrias, Flaccid"", ""Dysarthrias, Gutteral"", ""Dysarthrias, Mixed"", ""Dysarthrias, Scanning"", ""Dysarthrias, Spastic"", ""Flaccid Dysarthria"", ""Flaccid Dysarthrias"", ""Gutteral Dysarthria"", ""Gutteral Dysarthrias"", ""Mixed Dysarthria"", ""Mixed Dysarthrias"", ""Scanning Dysarthria"", ""Scanning Dysarthrias"", ""Spastic Dysarthria"", ""Spastic Dysarthrias""" MeSH:D004401(Dysarthria), SnoMedCT:206979005([D]Dysarthria), SnoMedCT:8011004(Dysarthria), UMLS:C0013362(C0013362), MedDRA:10013887(Dysarthria), NDFRT:N0000001014(Dysarthria [Disease/Finding]), HP:HP:0001260(Dysarthria) +PA443955 Dysentery, Bacillary """Bacillary Dysenteries"", ""Bacillary Dysentery"", ""Bacillary dysentery"", ""Dysenteries, Bacillary"", ""Infection, Shigella"", ""Infections, Shigella"", ""Shigella Infection"", ""Shigella Infections""" """MeSH:D004405(Dysentery, Bacillary)"", ""SnoMedCT:274081004(Bacillary dysentery)"", ""UMLS:C1527298(C1527298)"", ""MedDRA:10003972(Bacillary dysentery)"", ""NDFRT:N0000001018(Dysentery, Bacillary [Disease/Finding])"", ""MONDO:MONDO:0019345(shigellosis)""" +PA446872 Dyskeratosis Congenita """Cole-Engmann-Zinsser syndrome"", ""Congenita, X-Linked Dyskeratosis"", ""Dyskeratosis Congenita, X Linked"", ""Dyskeratosis Congenita, X-Linked"", ""Dyskeratosis congenita"", ""Syndrome, Zinsser-Cole-Engman"", ""X-Linked Dyskeratosis Congenita"", ""X-Linked Dyskeratosis Congenitas"", ""Zinsser Cole Engman Syndrome"", ""Zinsser-Cole-Engman Syndrome""" MeSH:D019871(Dyskeratosis Congenita), SnoMedCT:74911008(Dyskeratosis congenita), UMLS:C0265965(C0265965), MedDRA:10062759(Congenital dyskeratosis), NDFRT:N0000003963(Dyskeratosis Congenita [Disease/Finding]), MONDO:MONDO:0015780(dyskeratosis congenita) +PA443959 Dyskinesia, Drug-Induced """Drug-Induced Dyskinesia"", ""Drug-Induced Dyskinesias"", ""Drug-induced dyskinesia"", ""Dyskinesia, Drug Induced"", ""Dyskinesia, Lingual-Facial-Buccal"", ""Dyskinesia, Medication Induced"", ""Dyskinesia, Medication-Induced"", ""Dyskinesia, Orofacial"", ""Dyskinesias, Drug-Induced"", ""Dyskinesias, Lingual-Facial-Buccal"", ""Dyskinesias, Medication-Induced"", ""Lingual Facial Buccal Dyskinesia"", ""Lingual-Facial-Buccal Dyskinesia"", ""Lingual-Facial-Buccal Dyskinesias"", ""Medication Induced Dyskinesia"", ""Medication-Induced Dyskinesia"", ""Medication-Induced Dyskinesias"", ""Oral Dyskinesia"", ""Orofacial Dyskinesia"", ""Orofacial Dyskinesias""" """MeSH:D004409(Dyskinesia, Drug-Induced)"", ""SnoMedCT:102448004(Drug-induced dyskinesia)"", ""UMLS:C0013386(C0013386)"", ""NDFRT:N0000001022(Dyskinesia, Drug-Induced [Disease/Finding])"", ""MONDO:MONDO:0006732(drug-induced dyskinesia)""" +PA447097 Dyskinesias """Abnormal Movement"", ""Abnormal Movements"", ""Asterixis"", ""Ballismus"", ""Dyskinesia"", ""Hemiballism"", ""Hemiballismus"", ""Involuntary Movement"", ""Involuntary Movements"", ""Movement, Abnormal"", ""Movement, Involuntary"", ""Movements, Abnormal"", ""Movements, Involuntary""" MeSH:D020820(Dyskinesias), SnoMedCT:9748009(Dyskinesia), UMLS:C0013384(C0013384), MedDRA:10013916(Dyskinesia), NDFRT:N0000004204(Dyskinesias [Disease/Finding]), MONDO:MONDO:0006732(drug-induced dyskinesia) +PA443960 Dyslexia """Alexia"", ""Alexias"", ""Blindness, Word"", ""Blindnesses, Word"", ""Developmental Dyslexia"", ""Developmental Dyslexias"", ""Developmental Reading Disabilities"", ""Developmental Reading Disability"", ""Developmental Reading Disorder"", ""Developmental Reading Disorders"", ""Disabilities, Developmental Reading"", ""Disability, Developmental Reading"", ""Disorder, Developmental Reading"", ""Disorder, Reading"", ""Disorders, Developmental Reading"", ""Disorders, Reading"", ""Dyslexia, Developmental"", ""Dyslexias"", ""Dyslexias, Developmental"", ""Reading Disabilities, Developmental"", ""Reading Disability, Developmental"", ""Reading Disorder"", ""Reading Disorder, Developmental"", ""Reading Disorders"", ""Reading Disorders, Developmental"", ""Reading disorder unspecified"", ""Word Blindness"", ""Word Blindnesses"", ""[D]Dyslexia""" MeSH:D004410(Dyslexia), SnoMedCT:192137002(Reading disorder unspecified), SnoMedCT:206987006([D]Dyslexia), SnoMedCT:59770006(Dyslexia), UMLS:C0476254(C0476254), MedDRA:10013932(Dyslexia), NDFRT:N0000001023(Dyslexia [Disease/Finding]), MONDO:MONDO:0005489(dyslexia), HP:HP:0010522(Dyslexia) +PA165108110 Dyslipidaemia Dyslipidemia MeSH:D050171(Dyslipidemias), SnoMedCT:370992007(Dyslipidaemia), UMLS:C0242339(C0242339), MedDRA:10058108(Dyslipidaemia), NDFRT:N0000171679(Dyslipidemias [Disease/Finding]), MONDO:MONDO:0002525(inherited lipid metabolism disorder), HP:HP:0003119(Abnormal circulating lipid concentration) +PA443962 Dysmenorrhea """Dysmenorrheas"", ""Dysmenorrhoea"", ""Menorrhalgia"", ""Menstrual Pain"", ""Menstrual Pains"", ""Menstrual cramp"", ""Menstrual cramps"", ""Menstruation, Painful"", ""Menstruations, Painful"", ""Pain, Menstrual"", ""Painful Menstruation"", ""Painful Menstruations"", ""Painful menstruation"", ""Pains, Menstrual"", ""Period pain"", ""Period pain present""" MeSH:D004412(Dysmenorrhea), SnoMedCT:266599000(Dysmenorrhoea), SnoMedCT:289900009(Period pain present), SnoMedCT:431416001(Menstrual cramp), UMLS:C0013390(C0013390), MedDRA:10011299(Cramps menstrual), NDFRT:N0000001025(Dysmenorrhea [Disease/Finding]), HP:HP:0100607(Dysmenorrhea) +PA443965 Dyspepsia Dyspepsias, Indigestion, Indigestion NOS, Indigestions MeSH:D004415(Dyspepsia), SnoMedCT:162031009(Indigestion), SnoMedCT:249510006(Indigestion NOS), UMLS:C0013395(C0013395), MedDRA:10013946(Dyspepsia), NDFRT:N0000001028(Dyspepsia [Disease/Finding]), MONDO:MONDO:0002268(dyspepsia), HP:HP:0410281(Dyspepsia) +PA166185295 dysphoria MedDRA:10013954(Dysphoria), HP:HP:0033838(Dysphoria) +PA443967 Dyspnea Breath Shortness, Breath Shortnesses, Breathless, Breathlessness NOS, DIB - Difficulty in breathing, Difficulty breathing, Dyspneas, Dyspnoea, SOB - Shortness of breath, Shortness of Breath, Shortness of breath, Winded, [D]Breathlessness, [D]Dyspnea, [D]Dyspnoea MeSH:D004417(Dyspnea), SnoMedCT:161951008(Breathlessness NOS), SnoMedCT:207059009([D]Dyspnea), SnoMedCT:230145002(Difficulty breathing), SnoMedCT:248552009(Winded), SnoMedCT:267036007(Dyspnea), SnoMedCT:308149007([D]Breathlessness), UMLS:C0013404(C0013404), MedDRA:10006332(Breath shortness), NDFRT:N0000001030(Dyspnea [Disease/Finding]), HP:HP:0002094(Dyspnea) +PA443970 Dystonia """Diurnal Dystonia"", ""Dystonia, Diurnal"", ""Dystonia, Limb"", ""Dystonia, Muscle"", ""Dystonia, Paroxysmal"", ""Limb Dystonia"", ""Muscle Dystonia"", ""Paroxysmal Dystonia""" MeSH:D004421(Dystonia), UMLS:C0393593(C0393593), MedDRA:10013983(Dystonia), NDFRT:N0000001033(Dystonia), NDFRT:N0000004205(Dystonic Disorders [Disease/Finding]), HP:HP:0001332(Dystonia) +PA447098 Dystonic Disorders """Adult Onset Dystonias"", ""Adult Onset Idiopathic Focal Dystonias"", ""Adult Onset Idiopathic Torsion Dystonias"", ""Adult-Onset Dystonia"", ""Adult-Onset Dystonias"", ""Adult-Onset Idiopathic Focal Dystonias"", ""Adult-Onset Idiopathic Torsion Dystonias"", ""Autosomal Dominant Familial Dystonia"", ""Autosomal Recessive Familial Dystonia"", ""Childhood Onset Dystonia"", ""Childhood Onset Dystonias"", ""Dystonia Disorder"", ""Dystonia Disorders"", ""Dystonia, Adult-Onset"", ""Dystonia, Childhood Onset"", ""Dystonia, Familial"", ""Dystonia, Focal"", ""Dystonia, Hereditary"", ""Dystonia, Idiopathic Familial"", ""Dystonia, Primary"", ""Dystonia, Psychogenic"", ""Dystonia, Secondary"", ""Dystonia, Sporadic"", ""Dystonias, Adult-Onset"", ""Dystonias, Childhood Onset"", ""Dystonias, Familial"", ""Dystonias, Focal"", ""Dystonias, Hereditary"", ""Dystonias, Idiopathic Familial"", ""Dystonias, Primary"", ""Dystonias, Psychogenic"", ""Dystonias, Secondary"", ""Dystonias, Sporadic"", ""Dystonic Disorder"", ""Familial Dystonia"", ""Familial Dystonia, Autosomal Dominant"", ""Familial Dystonia, Autosomal Recessive"", ""Familial Dystonia, Idiopathic"", ""Familial Dystonias"", ""Familial Dystonias, Idiopathic"", ""Focal Dystonia"", ""Focal Dystonias"", ""Hereditary Dystonia"", ""Hereditary Dystonias"", ""Idiopathic Familial Dystonia"", ""Idiopathic Familial Dystonias"", ""Primary Dystonia"", ""Primary Dystonias"", ""Pseudodystonia"", ""Pseudodystonias"", ""Psychogenic Dystonia"", ""Psychogenic Dystonias"", ""Secondary Dystonia"", ""Secondary Dystonias"", ""Sporadic Dystonia"", ""Sporadic Dystonias"", ""Writer Cramp"", ""Writer's Cramp"", ""Writers Cramp""" MeSH:D020821(Dystonic Disorders), SnoMedCT:15802004(Dystonia), UMLS:C0393593(C0393593), MedDRA:10013983(Dystonia), NDFRT:N0000004205(Dystonic Disorders [Disease/Finding]), MONDO:MONDO:0003441(dystonic disorder) +PA152530886 Eating Disorders """Eating Disorder"", ""Eating disorder, NOS"", ""Female Athlete Triad Syndrome""" MeSH:D001068(Feeding and Eating Disorders), SnoMedCT:72366004(Eating disorder), UMLS:C0013473(C0013473), MedDRA:10014062(Eating disorder), NDFRT:N0000000457(Eating Disorders [Disease/Finding]) +PA165108343 Ebola virus disease Ebola haemorrhagic fever, Ebola hemorrhagic fever """MeSH:D019142(Hemorrhagic Fever, Ebola)"", ""SnoMedCT:37109004(Ebola virus disease)"", ""UMLS:C0282687(C0282687)"", ""MedDRA:10014071(Ebola disease)"", ""NDFRT:N0000003898(Hemorrhagic Fever, Ebola [Disease/Finding])"", ""MONDO:MONDO:0005737(Ebola hemorrhagic fever)""" +PA443984 Eclampsia Eclampsia NOS, Eclampsias, Eclamptic toxemia, Toxemia with convulsions MeSH:D004461(Eclampsia), SnoMedCT:15938005(Eclampsia), SnoMedCT:198989003(Eclampsia unspecified), SnoMedCT:198996001(Eclampsia NOS), UMLS:C0013537(C0013537), MedDRA:10014129(Eclampsia), NDFRT:N0000001047(Eclampsia [Disease/Finding]), MONDO:MONDO:0001754(eclampsia), cpgxTags:pgkbTags:1452102240(Maternal Health), HP:HP:0100601(Eclampsia) +PA443987 Ectodermal dysplasia syndrome """Anhidrotic Ectodermal Dysplasia"", ""Anhidrotic Ectodermal Dysplasias"", ""Aplasia Cutis Congenita"", ""Christ Siemens Touraine Syndrome"", ""Christ-Siemens-Touraine Syndrome"", ""Clouston Syndrome"", ""Clouston's Syndrome"", ""Cloustons Syndrome"", ""Congenital Ectodermal Defect"", ""Congenital Ectodermal Defects"", ""Defect, Congenital Ectodermal"", ""Defects, Congenital Ectodermal"", ""Dysplasia, Anhidrotic Ectodermal"", ""Dysplasia, Ectodermal"", ""Dysplasia, Hidrotic Ectodermal"", ""Dysplasias, Anhidrotic Ectodermal"", ""Dysplasias, Ectodermal"", ""Dysplasias, Hidrotic Ectodermal"", ""Ectodermal Defect, Congenital"", ""Ectodermal Defects, Congenital"", ""Ectodermal Dysplasia, Anhidrotic"", ""Ectodermal Dysplasia, Hidrotic"", ""Ectodermal Dysplasias"", ""Ectodermal Dysplasias, Anhidrotic"", ""Ectodermal Dysplasias, Hidrotic"", ""Hidrotic Ectodermal Dysplasia"", ""Hidrotic Ectodermal Dysplasias"", ""Syndrome, Christ-Siemens-Touraine"", ""Syndrome, Clouston's""" MeSH:D004476(Ectodermal Dysplasia), SnoMedCT:254154003(Congenital ectodermal defect), SnoMedCT:8654005(Ectodermal dysplasia), UMLS:C0013575(C0013575), MedDRA:10010452(Congenital ectodermal dysplasia), NDFRT:N0000001050(Ectodermal Dysplasia [Disease/Finding]), MONDO:MONDO:0019287(ectodermal dysplasia syndrome) +PA165109002 Ectopic pregnancy """MeSH:D011271(Pregnancy, Ectopic)"", ""SnoMedCT:198630007(Ectopic pregnancy NOS)"", ""UMLS:C0032987(C0032987)"", ""MedDRA:10014166(Ectopic pregnancy)"", ""NDFRT:N0000002486(Pregnancy, Ectopic [Disease/Finding])"", ""MONDO:MONDO:0000755(ectopic pregnancy)"", ""cpgxTags:pgkbTags:1452102240(Maternal Health)"", ""HP:HP:0031456(Ectopic pregnancy)""" +PA443992 Ectropion Ectropion (M-31318), Ectropion NOS, Ectropions, Everted margin, Eyelid everted MeSH:D004483(Ectropion), SnoMedCT:127559009(Ectropion), SnoMedCT:193934003(Unspecified ectropion), SnoMedCT:193935002(Ectropion NOS), SnoMedCT:62909004(Ectropion of eyelid), UMLS:C0013592(C0013592), MedDRA:10014179(Ectropion), NDFRT:N0000001055(Ectropion [Disease/Finding]), MONDO:MONDO:0002043(ectropion), HP:HP:0000656(Ectropion) +PA443993 Eczema """Dermatitides, Eczematous"", ""Dermatitis"", ""Dermatitis, Eczematous"", ""Eczema NOS"", ""Eczema, NOS"", ""Eczemas"", ""Eczematous Dermatitides"", ""Eczematous Dermatitis"", ""Eczematous dermatitis"", ""Eczematous dermatitis, NOS"", ""Unclassifiable eczema""" MeSH:D004485(Eczema), SnoMedCT:267797006(Eczema NOS), SnoMedCT:281104002(Unclassifiable eczema), SnoMedCT:43116000(Eczema), UMLS:C0013595(C0013595), MedDRA:10012454(Dermatitis eczematoid), NDFRT:N0000001056(Eczema [Disease/Finding]), MONDO:MONDO:0004980(atopic eczema), HP:HP:0000964(Eczematoid dermatitis) +PA443994 Edema """Dropsy"", ""Hydrops"", ""Hydrops, NOS"", ""Interstitial edema"", ""Interstitial oedema"", ""Oedema"", ""[D]Edema"", ""[D]Oedema""" MeSH:D004487(Edema), SnoMedCT:161988006(Edema NOS), SnoMedCT:206888002([D]Edema), SnoMedCT:206891002([D]Dropsy), SnoMedCT:20741006(Hydrops), SnoMedCT:267038008(Edema), SnoMedCT:423666004(Edema), SnoMedCT:79654002(Edema), UMLS:C0013604(C0013604), MedDRA:10014210(Edema), NDFRT:N0000001057(Edema [Disease/Finding]), HP:HP:0000969(Edema) +PA443997 Ehlers-Danlos Syndrome """Cutis Elastica"", ""Cutis elastica"", ""Cutis hyperelastica"", ""Cutis hyperelastica dermatorrhexis"", ""Danlos disease"", ""Dermatorrhexis with dermatochalasis AND arthrochalasis"", ""Disease, Ehlers-Danlos"", ""Dystrophia mesodermalis congenita"", ""Ehlers Danlos Disease"", ""Ehlers Danlos Syndrome"", ""Ehlers-Danlos Disease"", ""Ehlers-Danlos syndrome"", ""Fibrodysplasia elastica generalisata"", ""Hereditary collagen dysplasia"", ""India rubber skin"", ""Meekeren-Ehlers-Danlos syndrome"", ""Syndrome, Ehlers-Danlos""" MeSH:D004535(Ehlers-Danlos Syndrome), SnoMedCT:398114001(Ehlers-Danlos syndrome), UMLS:C0013720(C0013720), MedDRA:10011691(Cutis hyperplastica), NDFRT:N0000001059(Ehlers-Danlos Syndrome [Disease/Finding]), MONDO:MONDO:0020066(Ehlers-Danlos syndrome) +PA166048829 Elderly Adult Aged, Elder, Elderly person, Geriatric, Senior citizen MeSH:D000368(Aged), SnoMedCT:105436006(Elderly person), MedDRA:10014348(Elderly), NDFRT:N0000010213(Elderly Adult) +PA166048861 Elephantiasis NDFRT:N0000001062(Elephantiasis), MONDO:MONDO:0005424(elephantiasis) +PA166128372 Elevated circulating creatine kinase concentration Elevated creatine kinase level, Increased creatine kinase level (finding), Raised creatine kinase level SnoMedCT:432352001(Increased creatine kinase level), HP:HP:0003236(Elevated circulating creatine kinase concentration) +PA166410941 Elevated hemoglobin a1c Elevated HbA1c, Elevated glycated haemoglobin, Elevated glycated hemoglobin, Elevated glycosylated haemoglobin, Elevated glycosylated hemoglobin, Elevated haemoglobin A1c, Increased HbA1c levels HP:HP:0040217(Elevated hemoglobin A1c) +PA166279881 Elevated liver enzymes Transaminitis, elevations in alanine aminotransferase (ALT) MedDRA:10014481(Elevated liver enzymes), HP:HP:0002910(Elevated circulating hepatic transaminase concentration) +PA166314521 Elevated mean arterial pressure Arterial Pressure MeSH:D062186(Arterial Pressure), MedDRA:10026982(Mean arterial pressure), HP:HP:0004972(Elevated mean arterial pressure) +PA166328021 Elevated sweat chloride Sweat test outside reference range, sweat chloride test elevated MedDRA:10053619(Sweat chloride test elevated), HP:HP:0012236(Elevated sweat chloride) +PA444009 Emergencies Emergency, Emergency room visit MeSH:D000096924(Emergency Room Visits), MeSH:D004630(Emergencies), UMLS:C2745965(Emergencies [Disease/Finding]), NDFRT:N0000001071(Emergencies [Disease/Finding]) +PA447026 Emery-Dreifuss muscular dystrophy """Benign scapuloperoneal muscular dystrophy with early contractures"", ""Central core disease"", ""Dystrophy, Emery-Dreifuss Muscular"", ""EMD - Emery-Dreifuss muscular dystrophy"", ""Emery Dreifuss Syndrome"", ""Emery Dreifuss Type Muscular Dystrophy"", ""Emery-Dreifuss Muscular Dystrophy"", ""Emery-Dreifuss Syndrome"", ""Emery-Dreifuss Type Muscular Dystrophy"", ""Emery-Dreifuss muscular dystrophy"", ""Muscular Dystrophy, Emery Dreifuss"", ""Muscular Dystrophy, Emery Dreifuss Type"", ""Muscular Dystrophy, Emery-Dreifuss"", ""Muscular Dystrophy, Emery-Dreifuss Type"", ""Myopathy, Central Core"", ""Scapuloperoneal Myopathy"", ""Scapuloperoneal Syndrome"", ""Syndrome, Emery-Dreifuss""" """MeSH:D020389(Muscular Dystrophy, Emery-Dreifuss)"", ""SnoMedCT:111508004(Emery-Dreifuss muscular dystrophy)"", ""UMLS:C0410189(C0410189)"", ""NDFRT:N0000004132(Muscular Dystrophy, Emery-Dreifuss [Disease/Finding])"", ""MONDO:MONDO:0016830(Emery-Dreifuss muscular dystrophy)""" +PA152241953 Encephalopathy MedDRA:10014625(Encephalopathy), HP:HP:0001298(Encephalopathy) +PA444034 Endocarditis Endocarditides MeSH:D004696(Endocarditis), SnoMedCT:56819008(Endocarditis), UMLS:C0014118(C0014118), MedDRA:10014665(Endocarditis), NDFRT:N0000001096(Endocarditis [Disease/Finding]), MONDO:MONDO:0005025(endocarditis), HP:HP:0100584(Endocarditis) +PA444035 Endocarditis, Bacterial """Bacterial Endocarditides"", ""Bacterial Endocarditis"", ""Bacterial endocarditis"", ""Endocarditides, Bacterial""" """MeSH:D004697(Endocarditis, Bacterial)"", ""SnoMedCT:301183007(Bacterial endocarditis)"", ""UMLS:C0014121(C0014121)"", ""MedDRA:10004019(Bacterial endocarditis)"", ""NDFRT:N0000001097(Endocarditis, Bacterial [Disease/Finding])"", ""MONDO:MONDO:0006669(bacterial endocarditis)"", ""HP:HP:0006689(Bacterial endocarditis)""" +PA444039 Endometrial Hyperplasia """Endometrial Hyperplasias"", ""Endometrial hyperplasia"", ""Hyperplasia, Endometrial"", ""Hyperplasias, Endometrial""" MeSH:D004714(Endometrial Hyperplasia), SnoMedCT:237072009(Endometrial hyperplasia), UMLS:C0014173(C0014173), MedDRA:10014755(Endometrial hyperplasia), NDFRT:N0000001101(Endometrial Hyperplasia [Disease/Finding]), MONDO:MONDO:0041161(obsolete endometrial hyperplasia) +PA446411 Endometrial Neoplasms """Cancer of Endometrium"", ""Cancer of the Endometrium"", ""Cancer, Endometrial"", ""Cancer, Endometrium"", ""Cancers, Endometrial"", ""Cancers, Endometrium"", ""Endometrial Cancer"", ""Endometrial Cancers"", ""Endometrial Neoplasm"", ""Endometrium Cancer"", ""Endometrium Cancers"", ""Neoplasm of endometrium"", ""Neoplasm, Endometrial"", ""Neoplasms, Endometrial""" MeSH:D016889(Endometrial Neoplasms), SnoMedCT:123844007(Neoplasm of endometrium), UMLS:C0014170(C0014170), MedDRA:10014758(Endometrial neoplasia), NDFRT:N0000003502(Endometrial Neoplasms [Disease/Finding]), MONDO:MONDO:0021251(endometrium neoplasm) +PA444040 Endometriosis Adenomyoses, Adenomyosis, Endometrioses, Endometriosis (clinical), Endometriosis NOS MeSH:D004715(Endometriosis), SnoMedCT:129103003(Endometriosis (clinical)), SnoMedCT:198259004(Endometriosis NOS), SnoMedCT:396224008(Endometriosis), UMLS:C0014175(C0014175), MedDRA:10014778(Endometriosis), NDFRT:N0000001102(Endometriosis [Disease/Finding]), MONDO:MONDO:0005133(endometriosis), HP:HP:0030127(Endometriosis) +PA166048917 Enteritis NDFRT:N0000001106(Enteritis), MONDO:MONDO:0043579(enteritis) +PA165108247 Enterobiasis Oxyuriasis MONDO:MONDO:0005746(enterobiasis) +PA444047 Enterocolitis """Enterocolitides"", ""Enterocolitis, NOS""" MeSH:D004760(Enterocolitis), SnoMedCT:43752006(Enterocolitis), UMLS:C0014356(C0014356), MedDRA:10014893(Enterocolitis), NDFRT:N0000001109(Enterocolitis [Disease/Finding]), MONDO:MONDO:0009172(enterocolitis), HP:HP:0004387(Enterocolitis) +PA444052 Enuresis Bedwetting, Enuresis [D], [D]Enuresis MeSH:D004775(Enuresis), SnoMedCT:274255006([D]Enuresis), UMLS:C0014394(C0014394), MedDRA:10014928(Enuresis), NDFRT:N0000001114(Enuresis [Disease/Finding]), MONDO:MONDO:0024290(enuresis), HP:HP:0000805(Enuresis) +PA166224501 eosinophilic esophagitis MedDRA:10064220(Eosinophilic esophagitis), MONDO:MONDO:0005361(eosinophilic esophagitis) +PA444062 Epidermolysis Bullosa Acantholysis Bullosa MeSH:D004820(Epidermolysis Bullosa), SnoMedCT:61003004(Epidermolysis bullosa), UMLS:C0014527(C0014527), MedDRA:10014989(Epidermolysis bullosa), NDFRT:N0000001123(Epidermolysis Bullosa [Disease/Finding]), MONDO:MONDO:0006541(epidermolysis bullosa) +PA446273 Epidermolysis Bullosa Dystrophica """Cockayne Touraine Disease"", ""Cockayne-Touraine Disease"", ""Dystrophic Epidermolysis Bullosa"", ""Dystrophic epidermolysis bullosa"", ""Epidermolysis Bullosa Dystrophica, Dominant"", ""Epidermolysis Bullosa Dystrophica, Recessive"", ""Epidermolysis Bullosa, Dystrophic"", ""Epidermolysis bullosa dystrophica"", ""Hallopeau Siemens Disease"", ""Hallopeau-Siemens Disease""" MeSH:D016108(Epidermolysis Bullosa Dystrophica), SnoMedCT:254185007(Dystrophic epidermolysis bullosa), UMLS:C0079294(C0079294), NDFRT:N0000003362(Epidermolysis Bullosa Dystrophica [Disease/Finding]), MONDO:MONDO:0006543(epidermolysis bullosa dystrophica) +PA444066 Epilepsies, Partial """Abdominal Epilepsies"", ""Abdominal Epilepsy"", ""Amygdalo-Hippocampal Epilepsies"", ""Amygdalo-Hippocampal Epilepsy"", ""Benign Focal Epilepsy, Childhood"", ""Benign Occipital Epilepsy, Childhood"", ""Childhood Benign Focal Epilepsy"", ""Childhood Benign Occipital Epilepsy"", ""Digestive Epilepsies"", ""Digestive Epilepsy"", ""Disorders, Focal Seizure"", ""Disorders, Partial Seizure"", ""Epilepsies, Abdominal"", ""Epilepsies, Amygdalo-Hippocampal"", ""Epilepsies, Digestive"", ""Epilepsies, Focal"", ""Epilepsies, Gelastic"", ""Epilepsies, Localization-Related"", ""Epilepsies, Occipital Lobe"", ""Epilepsies, Rhinencephalic"", ""Epilepsies, Simple Partial"", ""Epilepsy, Abdominal"", ""Epilepsy, Focal"", ""Epilepsy, Localization-Related"", ""Epilepsy, Partial"", ""Epilepsy, Simple Partial"", ""Focal Epilepsies"", ""Focal Epilepsy"", ""Focal Seizure Disorder"", ""Focal Seizure Disorders"", ""Gelastic Epilepsies"", ""Gelastic Epilepsy"", ""Lobe Epilepsy, Occipital"", ""Local epilepsy"", ""Localisation-related epilepsy"", ""Localization-Related Epilepsies"", ""Localization-Related Epilepsy"", ""Occipital Lobe Epilepsies"", ""Occipital Lobe Epilepsy"", ""Partial Epilepsies"", ""Partial Epilepsies, Simple"", ""Partial Epilepsy"", ""Partial Seizure Disorder"", ""Partial Seizure Disorders"", ""Partial Seizures, Simple"", ""Partial Seizures, Simple, Consciousness Preserved"", ""Partial epilepsy"", ""Rhinencephalic Epilepsies"", ""Rhinencephalic Epilepsy"", ""Seizure Disorder, Focal"", ""Seizure Disorder, Partial"", ""Seizure Disorders, Focal"", ""Seizure Disorders, Partial"", ""Seizure, Subclinical"", ""Seizure, Uncinate"", ""Seizures, Simple Partial"", ""Seizures, Subclinical"", ""Seizures, Uncinate"", ""Simple Partial Epilepsies"", ""Simple Partial Seizures"", ""Subclinical Seizure"", ""Subclinical Seizures"", ""Uncinate Seizures""" """MeSH:D004828(Epilepsies, Partial)"", ""SnoMedCT:230381009(Localisation-related epilepsy)"", ""UMLS:C0014547(C0014547)"", ""MedDRA:10065337(Focal epilepsy)"", ""NDFRT:N0000001127(Epilepsies, Partial [Disease/Finding])"", ""MONDO:MONDO:0005384(focal epilepsy)""" +PA444065 Epilepsy """Aura"", ""Auras"", ""Awakening Epilepsy"", ""Cryptogenic Epilepsies"", ""Cryptogenic Epilepsy"", ""EP - Epilepsy"", ""Epilepsies"", ""Epilepsies, Cryptogenic"", ""Epilepsy, Awakening"", ""Epilepsy, Cryptogenic"", ""Epilepsy, NOS"", ""Epileptic Seizure"", ""Epileptic Seizures"", ""Epileptic attack, NOS"", ""Epileptic disorder"", ""Seizure Disorder"", ""Seizure Disorders"", ""Seizure disorder"", ""Seizure, Epileptic"", ""Seizure, Single"", ""Seizures, Epileptic"", ""Seizures, Single"", ""Single Seizure"", ""Single Seizures""" MeSH:D004827(Epilepsy), SnoMedCT:128613002(Seizure disorder), SnoMedCT:267593008(Epilepsy NOS), SnoMedCT:313307000(Epileptic seizure), SnoMedCT:84757009(Epilepsy), UMLS:C0014544(C0014544), MedDRA:10015037(Epilepsy), NDFRT:N0000001126(Epilepsy [Disease/Finding]), MONDO:MONDO:0005027(epilepsy) +PA444070 Epilepsy, Absence """Absence Epilepsies, Childhood"", ""Absence Epilepsies, Juvenile"", ""Absence Epilepsy"", ""Absence Epilepsy, Childhood"", ""Absence Epilepsy, Juvenile"", ""Absence Seizure"", ""Absence Seizure Disorder"", ""Absence Seizure Disorders"", ""Absence Seizure, Atonic"", ""Absence Seizures"", ""Absence Seizures, Atonic"", ""Absence seizures"", ""Akinetic Petit Mal"", ""Atonic Absence Seizure"", ""Atonic Absence Seizures"", ""Childhood - juvenile - absence epilepsy"", ""Childhood Absence Epilepsies"", ""Childhood Absence Epilepsy"", ""Childhood absence epilepsy"", ""Convulsion, Petit Mal"", ""Epilepsies, Childhood Absence"", ""Epilepsies, Juvenile Absence"", ""Epilepsy, Absence, Atypical"", ""Epilepsy, Childhood Absence"", ""Epilepsy, Juvenile Absence"", ""Epilepsy, Minor"", ""Epilepsy, Petit Mal"", ""Juvenile Absence Epilepsies"", ""Juvenile Absence Epilepsy"", ""Juvenile absence epilepsy"", ""Minor Epilepsies"", ""Minor Epilepsy"", ""Petit Mal Convulsion"", ""Petit Mal Epilepsies"", ""Petit Mal Epilepsy"", ""Petit Mal, Akinetic"", ""Petit mal"", ""Pykno Epilepsy"", ""Pykno-Epilepsies"", ""Pykno-Epilepsy"", ""Pyknolepsies"", ""Pyknolepsy"", ""Seizure Disorder, Absence"", ""Seizure Disorders, Absence"", ""Seizure, Absence"", ""Seizure, Atonic Absence"", ""Seizures, Atonic Absence""" """MeSH:D004832(Epilepsy, Absence)"", ""SnoMedCT:230413002(Juvenile absence epilepsy)"", ""SnoMedCT:50866000(Childhood absence epilepsy)"", ""SnoMedCT:79631006(Absence seizure)"", ""UMLS:C0014553(C0014553)"", ""MedDRA:10000331(Absence seizure)"", ""NDFRT:N0000001131(Epilepsy, Absence [Disease/Finding])"", ""MONDO:MONDO:0850093(absence epilepsy)""" +PA444067 Epilepsy, idiopathic generalized """Akinetic Epilepsies"", ""Akinetic Epilepsy"", ""Atonic Epilepsies"", ""Atonic Epilepsy"", ""Convulsive Epilepsies, Generalized"", ""Convulsive Epilepsy, Generalized"", ""Convulsive Generalized Seizure Disorder"", ""Convulsive Seizure Disorder, Generalized"", ""Epilepsies, Akinetic"", ""Epilepsies, Atonic"", ""Epilepsies, Generalized"", ""Epilepsies, Generalized Convulsive"", ""Epilepsies, Tonic"", ""Epilepsy, Akinetic"", ""Epilepsy, Atonic"", ""Epilepsy, Generalized Convulsive"", ""Epilepsy, Generalized Nonconvulsive"", ""Epilepsy, Symptomatic Generalized"", ""Epilepsy, Tonic"", ""Generalized Convulsive Epilepsies"", ""Generalized Convulsive Epilepsy"", ""Generalized Epilepsies"", ""Generalized Epilepsy"", ""Generalized Epilepsy, Symptomatic"", ""Generalized Nonconvulsive Epilepsy"", ""Generalized Nonconvulsive Seizure Disorder"", ""Generalized Onset Seizure Disorder"", ""Generalized Seizure Disorder"", ""Generalized Seizure Disorder, Convulsive"", ""Generalized Seizure Disorder, Nonconvulsive"", ""Generalized Seizure Disorders"", ""Generalized epilepsy, NOS"", ""Nonconvulsive Epilepsy, Generalized"", ""Nonconvulsive Generalized Seizure Disorder"", ""Nonconvulsive Seizure Disorder, Generalized"", ""Seizure Disorder, Convulsive, Generalized"", ""Seizure Disorder, Generalized"", ""Seizure Disorder, Generalized Nonconvulsive"", ""Seizure Disorder, Generalized Onset"", ""Seizure Disorder, Generalized, Convulsive"", ""Seizure Disorder, Nonconvulsive Generalized"", ""Seizure Disorders, Generalized"", ""Symptomatic Generalized Epilepsy"", ""Tonic Epilepsies"", ""Tonic Epilepsy""" """MeSH:D004829(Epilepsy, Generalized)"", ""SnoMedCT:19598007(Generalized epilepsy)"", ""UMLS:C0014548(C0014548)"", ""NDFRT:N0000001128(Epilepsy, Generalized [Disease/Finding])"", ""MONDO:MONDO:0005579(idiopathic generalized epilepsy)""" +PA166048794 Epilepsy, Tonic-Clonic """NDFRT:N0000001129(Epilepsy, Tonic-Clonic)"", ""MONDO:MONDO:0005754(epilepsy with generalized tonic-clonic seizures)""" +PA444075 Epistaxis Finding of bleeding of nose, Nasal haemorrhage, Nasal hemorrhage, Nose Bleed, Nose Bleeds, Nosebleed, Observation of bleeding of nose, [D]Nosebleed MeSH:D004844(Epistaxis), SnoMedCT:12441001(Epistaxis), SnoMedCT:206993003([D]Epistaxis), SnoMedCT:249366005(Bleeding from nose), UMLS:C0014591(C0014591), MedDRA:10005124(Bleeding nose), NDFRT:N0000001136(Epistaxis [Disease/Finding]), HP:HP:0000421(Epistaxis) +PA446883 Epstein-Barr Virus Infections """EBV Infection"", ""EBV Infections"", ""Epstein Barr Virus Infections"", ""Epstein-Barr virus infection"", ""Human Herpes Virus 4 Infections"", ""Human Herpesvirus 4 Infections"", ""Infections, EBV"", ""Infections, Epstein-Barr Virus"", ""Virus Infections, Epstein-Barr""" MeSH:D020031(Epstein-Barr Virus Infections), SnoMedCT:240530001(Epstein-Barr virus disease), SnoMedCT:402121009(Epstein-Barr virus infection), UMLS:C0149678(C0149678), MedDRA:10014077(EBV infection), NDFRT:N0000003987(Epstein-Barr Virus Infections [Disease/Finding]), MONDO:MONDO:0005111(Epstein-Barr virus infection) +PA444606 Erectile Dysfunction """Dysfunction, Erectile"", ""Dysfunctions, Erectile"", ""Erectile Dysfunction"", ""Erectile Dysfunctions"", ""Erectile dysfunction"", ""Failure of erection"", ""Impotence"", ""Impotence, Vasculogenic"", ""Male erectile disorder"", ""Sexual impotence""" MeSH:D007172(Erectile Dysfunction), SnoMedCT:397803000(Impotence), SnoMedCT:398175007(Male erectile disorder), UMLS:C0242350(C0242350), MedDRA:10015116(Erectile disturbance), NDFRT:N0000001672(Erectile Dysfunction [Disease/Finding]), MONDO:MONDO:0005362(erectile dysfunction), HP:HP:0100639(Erectile dysfunction) +PA444083 Erythema Erythema - observation, Erythemas, Erythematous condition, Hyperaemia, Hyperemia, Red skin MeSH:D004890(Erythema), SnoMedCT:200954004(Erythematous conditions NOS), SnoMedCT:247441003(Erythema), SnoMedCT:70819003(Erythema), SnoMedCT:86735004(Erythematous condition), UMLS:C0041834(C0041834), MedDRA:10015150(Erythema), NDFRT:N0000001144(Erythema [Disease/Finding]), HP:HP:0010783(Erythema) +PA165108357 Erythema multiforme MeSH:D004892(Erythema Multiforme), SnoMedCT:200928007(Erythema multiforme NOS), UMLS:C0014742(C0014742), MedDRA:10057866(Erythaema polymorphe), NDFRT:N0000001146(Erythema Multiforme [Disease/Finding]), MONDO:MONDO:0006545(erythema multiforme) +PA444086 Erythema Nodosum """EN - Erythema nodosum"", ""Erythema nodosum"", ""Erythema nodosum, NOS""" MeSH:D004893(Erythema Nodosum), SnoMedCT:32861005(Erythema nodosum), UMLS:C0014743(C0014743), MedDRA:10015226(Erythema nodosum), NDFRT:N0000001147(Erythema Nodosum [Disease/Finding]), MONDO:MONDO:0850231(erythema nodosum), HP:HP:0012219(Erythema nodosum) +PA165108127 Erythrasma MeSH:D004894(Erythrasma), SnoMedCT:238418005(Erythrasma), UMLS:C0014752(C0014752), MedDRA:10015248(Erythrasma), NDFRT:N0000001148(Erythrasma [Disease/Finding]), MONDO:MONDO:0002885(erythrasma) +PA166048718 Escherichia coli Infections NDFRT:N0000001154(Escherichia coli Infections), MONDO:MONDO:0020920(escherichia coli infection) +PA444104 Esophagitis """Esophagitides"", ""Esophagitis, NOS"", ""Oesophagitis""" MeSH:D004941(Esophagitis), SnoMedCT:16761005(Oesophagitis), SnoMedCT:196605000(Esophagitis NOS), UMLS:C0014868(C0014868), MedDRA:10015461(Esophagitis), NDFRT:N0000001165(Esophagitis [Disease/Finding]), MONDO:MONDO:0001409(esophagitis), HP:HP:0100633(Esophagitis) +PA444105 Esophagitis, Peptic """Esophagitides, Peptic"", ""Esophagitides, Reflux"", ""Esophagitis, Reflux"", ""Peptic Esophagitides"", ""Peptic Esophagitis"", ""Peptic reflux oesophagitis"", ""Reflux Esophagitides"", ""Reflux Esophagitis""" """MeSH:D004942(Esophagitis, Peptic)"", ""SnoMedCT:57643001(Peptic reflux disease)"", ""UMLS:C0014869(C0014869)"", ""MedDRA:10038262(Reflux esophagitis)"", ""NDFRT:N0000001166(Esophagitis, Peptic [Disease/Finding])"", ""MONDO:MONDO:0006896(peptic esophagitis)""" +PA444106 Esotropia """Convergent Strabismus"", ""Convergent squint"", ""Convergent strabismus"", ""Cross Eye"", ""Cross-Eye"", ""Cross-Eyes"", ""Cross-eye"", ""Esodeviation"", ""Esodeviations"", ""Esophoria"", ""Esophorias"", ""Esotropia, Intermittent"", ""Esotropia, Monocular"", ""Esotropia, NOS"", ""Esotropia, Primary"", ""Esotropia, Secondary"", ""Esotropias"", ""Esotropias, Intermittent"", ""Esotropias, Monocular"", ""Esotropias, Primary"", ""Esotropias, Secondary"", ""Intermittent Esotropia"", ""Intermittent Esotropias"", ""Internal Strabismus"", ""Monocular Esotropia"", ""Monocular Esotropias"", ""Primary Esotropia"", ""Primary Esotropias"", ""Secondary Esotropia"", ""Secondary Esotropias"", ""Strabismus, Convergent"", ""Strabismus, Internal"", ""Unspecified esotropia""" MeSH:D004948(Esotropia), SnoMedCT:16596007(Esotropia), SnoMedCT:194074002(Unspecified esotropia), SnoMedCT:194085000(Esotropia NOS), UMLS:C0014877(C0014877), MedDRA:10010891(Convergent concomitant strabismus), NDFRT:N0000001167(Esotropia [Disease/Finding]), MONDO:MONDO:0004896(esotropia), HP:HP:0000565(Esotropia) +PA447288 Essential hypertension """Essential hypertension NOS"", ""Essential hypertension, NOS"", ""Primary hypertension"", ""Primary hypertension, NOS"", ""essential hypertension""" MeSH:D000075222(Essential Hypertension), SnoMedCT:59621000(Essential hypertension), UMLS:C0085580(C0085580), MedDRA:10015488(Essential hypertension), MONDO:MONDO:0001134(essential hypertension) +PA445845 Essential thrombocythemia """Essential Thrombocythemia"", ""Essential Thrombocythemias"", ""Essential hemorrhagic thrombocythemia"", ""Essential thrombocythaemia"", ""Essential thrombocythaemia (clinical disorder)"", ""Essential thrombocythaemia (disorder)"", ""Essential thrombocythemia"", ""Essential thrombocythemia (clinical disorder)"", ""Essential thrombocythemia (clinical)"", ""Essential thrombocytosis"", ""Hemorrhagic Thrombocythemia"", ""Hemorrhagic Thrombocythemias"", ""Idiopathic Thrombocythemia"", ""Idiopathic Thrombocythemias"", ""Idiopathic haemorrhagic thrombocythaemia"", ""Idiopathic hemorrhagic thrombocythemia"", ""Idiopathic thrombocythaemia"", ""Idiopathic thrombocythemia"", ""Primary Thrombocythemia"", ""Primary Thrombocythemias"", ""Thrombocythemia, Essential"", ""Thrombocythemia, Hemorrhagic"", ""Thrombocythemia, Idiopathic"", ""Thrombocythemia, Primary"", ""Thrombocythemias, Essential"", ""Thrombocythemias, Hemorrhagic"", ""Thrombocythemias, Idiopathic"", ""Thrombocythemias, Primary"", ""[M]Idiopathic thrombocythaemia"", ""[M]Idiopathic thrombocythemia""" """MeSH:D013920(Thrombocythemia, Essential)"", ""SnoMedCT:109994006(Essential thrombocythemia)"", ""SnoMedCT:128844009(Essential thrombocythemia)"", ""UMLS:C0040028(C0040028)"", ""MedDRA:10015493(Essential thrombocythaemia)"", ""NDFRT:N0000002931(Thrombocythemia, Essential [Disease/Finding])"", ""MONDO:MONDO:0005029(essential thrombocythemia)""" +PA447006 Essential Tremor """Benign Essential Tremor"", ""Benign Essential Tremors"", ""Benign essential tremor"", ""Essential Tremor, Benign"", ""Essential Tremors"", ""Essential Tremors, Benign"", ""Essential tremor"", ""Familial Tremor"", ""Familial Tremors"", ""Hereditary essential tremor"", ""Heredofamilial tremor"", ""Tremor, Benign Essential"", ""Tremor, Essential"", ""Tremor, Familial"", ""Tremors, Benign Essential"", ""Tremors, Essential"", ""Tremors, Familial""" MeSH:D020329(Essential Tremor), SnoMedCT:192839001(Essential tremor), UMLS:C0270736(C0270736), MedDRA:10004262(Benign essential tremor), NDFRT:N0000004112(Essential Tremor [Disease/Finding]), MONDO:MONDO:0003233(essential tremor) +PA166123366 event-free survival disease-free survival UMLS:C0242793(disease-free survival) +PA444109 Exanthema """Breaking out - eruption"", ""Cutaneous eruption"", ""Eruption"", ""Exanthem"", ""Exanthemata"", ""Rash"", ""Rash, Skin"", ""Skin Rash"", ""Skin eruption"", ""Skin rash"", ""[D]Exanthem"", ""[D]Rash and other nonspecific skin eruption""" MeSH:D005076(Exanthema), SnoMedCT:112625008(Cutaneous eruption), SnoMedCT:206860008([D]Rash and other nonspecific skin eruption), SnoMedCT:206861007([D]Exanthem), SnoMedCT:271807003(Eruption), UMLS:C0015230(C0015230), MedDRA:10058692(Efflorescence), NDFRT:N0000001170(Exanthema [Disease/Finding]), MONDO:MONDO:0006547(exanthem) +PA446555 Exfoliation Syndrome """Exfoliation Syndrome"", ""Exfoliation Syndromes"", ""Exfoliative Syndrome"", ""Exfoliative Syndromes"", ""Glaucoma Capsulare"", ""Glaucoma capsulare"", ""Glaucoma, Exfoliation"", ""Pseudo Exfoliation Syndrome"", ""Pseudo-Exfoliation Syndrome"", ""Pseudo-Exfoliation Syndromes"", ""Pseudoexfoliation Syndrome"", ""Pseudoexfoliation Syndromes"", ""Pseudoexfoliation glaucoma"", ""Secondary open-angle glaucoma with pseudoexfoliation"", ""Syndrome, Exfoliation"", ""Syndrome, Exfoliative"", ""Syndrome, Pseudo-Exfoliation"", ""Syndrome, Pseudoexfoliation"", ""Syndromes, Exfoliation"", ""Syndromes, Exfoliative"", ""Syndromes, Pseudo-Exfoliation"", ""Syndromes, Pseudoexfoliation""" MeSH:D017889(Exfoliation Syndrome), SnoMedCT:111514006(Pseudoexfoliation glaucoma), UMLS:C0206368(C0206368), MedDRA:10037118(Pseudoexfoliation glaucoma), NDFRT:N0000003646(Exfoliation Syndrome [Disease/Finding]), MONDO:MONDO:0008327(exfoliation syndrome) +PA445217 Exocrine Pancreatic Insufficiency """Exocrine pancreatic insufficiency"", ""Insufficiencies, Pancreatic"", ""Insufficiency, Pancreatic"", ""Pancreatic Insufficiencies"", ""Pancreatic Insufficiency""" MeSH:D010188(Exocrine Pancreatic Insufficiency), SnoMedCT:47367009(Exocrine pancreatic insufficiency), UMLS:C0267963(C0267963), NDFRT:N0000011093(Exocrine Pancreatic Insufficiency [Disease/Finding]), MONDO:MONDO:0001684(exocrine pancreatic insufficiency), HP:HP:0001738(Exocrine pancreatic insufficiency) +PA166346442 exposure to second hand tobacco smoke Exposure to second hand tobacco smoke (event) SnoMedCT:16090371000119103(Exposure to second hand tobacco smoke) +PA166170367 extrapyramidal symptoms MedDRA:10015835(Extrapyramidal symptoms), HP:HP:0002071(Abnormality of extrapyramidal motor function) +PA444119 Eye Diseases """Disease of eyeball"", ""Disease, Eye"", ""Diseases, Eye"", ""Disorder of eye"", ""Disorder of eye proper"", ""Disorder of globe"", ""Disorders of globe NOS"", ""Eye Disease"", ""Eye disorder"", ""Unspecified disorder of eye""" MeSH:D005128(Eye Diseases), SnoMedCT:193316008(Disorders of globe NOS), SnoMedCT:194183009(Unspecified disorder of eye), SnoMedCT:371405004(Disorder of eye), UMLS:C0015397(C0015397), MedDRA:10013221(Disorder eye), NDFRT:N0000001181(Eye Diseases [Disease/Finding]), MONDO:MONDO:0005328(eye disorder) +PA166048905 Eye Infections NDFRT:N0000003323(Eye Infections), MONDO:MONDO:0043885(eye infectious disorder) +PA166048844 Eye Infections, Fungal """NDFRT:N0000003326(Eye Infections, Fungal)"", ""MONDO:MONDO:0020944(fungal infection of eye)""" +PA166048760 Eye Infections, Viral """NDFRT:N0000003331(Eye Infections, Viral)"", ""MONDO:MONDO:0020950(viral eye infection)""" +PA443367 Fabry Disease """Anderson Fabry Disease"", ""Anderson-Fabry Disease"", ""Angiokeratoma Corporis Diffusum"", ""Angiokeratoma corporis diffusum"", ""Cardiovasorenal syndrome"", ""Deficiency of alpha-galactosidase"", ""Deficiency of melibiase"", ""Disease, Anderson-Fabry"", ""Disease, Fabry"", ""Disease, Fabry's"", ""Fabry disease"", ""Fabry's Disease"", ""Fabrys Disease"", ""Thesaurismosis lipoidica"", ""alpha-Galactosidase-A deficiency""" MeSH:D000795(Fabry Disease), SnoMedCT:124464003(Deficiency of alpha-galactosidase), SnoMedCT:16652001(Fabry's disease), UMLS:C0002986(C0002986), MedDRA:10002458(Angiokeratoma corporis diffusum universale), NDFRT:N0000000411(Fabry Disease [Disease/Finding]), MONDO:MONDO:0010526(Fabry disease) +PA444135 Facial Paralysis """Central Facial Paralyses"", ""Central Facial Paralysis"", ""Facial Palsies"", ""Facial Palsy"", ""Facial Palsy, Lower Motor Neuron"", ""Facial Palsy, Upper Motor Neuron"", ""Facial Paralyses, Central"", ""Facial Paralyses, Peripheral"", ""Facial Paralysis, Central"", ""Facial Paralysis, Peripheral"", ""Facial Paresis"", ""Facial palsy"", ""Hemifacial Paralysis"", ""Lower Motor Neuron Facial Palsy"", ""Palsies, Facial"", ""Palsy, Facial"", ""Paralyses, Central Facial"", ""Paralyses, Facial"", ""Paralyses, Hemifacial"", ""Paralysis, Central Facial"", ""Paralysis, Facial"", ""Paralysis, Hemifacial"", ""Paralysis, Peripheral Facial"", ""Pareses, Facial"", ""Paresis, Facial"", ""Peripheral Facial Paralysis"", ""Upper Motor Neuron Facial Palsy""" MONDO:MONDO:0001835(facial paralysis), HP:HP:0007209(Facial paralysis) +PA166048842 Factor VII Deficiency NDFRT:N0000001200(Factor VII Deficiency), MONDO:MONDO:0002244(factor VII deficiency) +PA444142 Failure to Thrive """Failure to thrive"", ""Failure to thrive in infant"", ""Thrive, Failure to"", ""[D]Failure to thrive""" MeSH:D005183(Failure to Thrive), SnoMedCT:206927009([D]Failure to thrive), SnoMedCT:433476000(Failure to thrive in infant), SnoMedCT:54840006(Failure to thrive), UMLS:C0015544(C0015544), MedDRA:10016165(Failure to thrive), NDFRT:N0000001205(Failure to Thrive [Disease/Finding]), HP:HP:0001508(Failure to thrive) +PA444144 Fallopian Tube Neoplasms """Fallopian Tube Neoplasm"", ""Neoplasm of fallopian tube"", ""Neoplasm, Fallopian Tube"", ""Neoplasms, Fallopian Tube"", ""Tube Neoplasm, Fallopian"", ""Tube Neoplasms, Fallopian"", ""Tumor of fallopian tube"", ""Tumour of fallopian tube""" MeSH:D005185(Fallopian Tube Neoplasms), SnoMedCT:126916003(Neoplasm of fallopian tube), UMLS:C0015558(C0015558), MedDRA:10061855(Fallopian tube neoplasm), NDFRT:N0000001207(Fallopian Tube Neoplasms [Disease/Finding]), MONDO:MONDO:0021092(fallopian tube neoplasm) +PA166351221 Falls Fall, Falling down, Falling injury, Falling over SnoMedCT:1912002(Fall), MedDRA:10016173(Fall), HP:HP:0002527(Falls) +PA165108716 Familial generalised lipodystrophy Berardinelli lipodystrophy syndrome, Berardinelli-Seip syndrome, Congenital lipoatrophic diabetes, Congenital lipodystrophic diabetes, Congenital lipodystrophy, Familial generalized lipodystrophy, Familial lipodystrophic diabetes, Lipodystrophy of Berardinelli, Lipodystrophy with muscular hypertrophy, Total lipodystrophy AND acromegaloid gigantism """MeSH:D052497(Lipodystrophy, Congenital Generalized)"", ""SnoMedCT:286289004(Familial generalised lipodystrophy)"", ""UMLS:C0221032(C0221032)"", ""MedDRA:10053547(Congenital generalised lipodystrophy)"", ""NDFRT:N0000181065(Lipodystrophy, Congenital Generalized [Disease/Finding])"", ""MONDO:MONDO:0006536(congenital generalized lipodystrophy)""" +PA166114942 Familial hypercholesterolemia SnoMedCT:31654005(Familial hypercholesterolemia), MONDO:MONDO:0005439(familial hypercholesterolemia) +PA445293 Familial Mediterranean Fever """Amyloid of familial Mediterranean fever"", ""Benign paroxysmal peritonitis"", ""Disease, Periodic"", ""Disease, Wolff Periodic"", ""Disease, Wolff's Periodic"", ""FMF - Familial Mediterranean fever"", ""Familial Mediterranean fever"", ""Familial recurrent polyserositis"", ""Fever, Familial Mediterranean"", ""Hereditary Periodic Fever Syndromes"", ""MEF - Familial Mediterranean fever"", ""Mediterranean Fever, Familial"", ""Paroxysmal polyserositis"", ""Periodic Disease"", ""Periodic Disease, Wolff"", ""Periodic Disease, Wolff's"", ""Periodic Fever Syndromes, Hereditary"", ""Periodic disease"", ""Periodic familial peritonitis"", ""Periodic fever"", ""Periodic peritonitis"", ""Periodic polyserositis"", ""Recurrent polyserositis"", ""Wolff Periodic Disease"", ""Wolff's Periodic Disease"", ""Wolffs Periodic Disease""" MeSH:D010505(Familial Mediterranean Fever), SnoMedCT:12579009(Familial Mediterranean fever), UMLS:C0031069(C0031069), MedDRA:10016207(Familial mediterranean fever), NDFRT:N0000002367(Familial Mediterranean Fever [Disease/Finding]), MONDO:MONDO:0018088(familial Mediterranean fever) +PA444146 Fanconi Anemia """Anemia, Fanconi"", ""Anemia, Fanconi's"", ""Anemias, Fanconi"", ""Fanconi Anemias"", ""Fanconi pancytopenia syndrome"", ""Fanconi's Anemia"", ""Fanconi's anaemia"", ""Fanconi's anemia"", ""Fanconi's familial refractory anaemia"", ""Fanconi's familial refractory anemia"", ""Fanconi's hypoplastic anaemia"", ""Fanconi's hypoplastic anemia"", ""Pancytopenia-dysmelia syndrome""" MeSH:D005199(Fanconi Anemia), SnoMedCT:30575002(Fanconi's anaemia), UMLS:C0015625(C0015625), MedDRA:10016218(Fanconi's anaemia), NDFRT:N0000001209(Fanconi Anemia [Disease/Finding]), MONDO:MONDO:0019391(Fanconi anemia) +PA444145 Fanconi renotubular syndrome """De Toni Debre Fanconi Syndrome"", ""De Toni-Debre-Fanconi Syndrome"", ""De Toni-Fanconi syndrome"", ""Fanconi syndrome"", ""Fanconi syndrome, NOS"", ""Lignac Fanconi Syndrome"", ""Lignac-Fanconi Syndrome"", ""Primary Fanconi syndrome"", ""Proximal Renal Tubular Dysfunction"", ""Syndrome, De Toni-Debre-Fanconi"", ""Syndrome, Fanconi"", ""Syndrome, Lignac-Fanconi""" MeSH:D005198(Fanconi Syndrome), SnoMedCT:236466005(Congenital Fanconi syndrome), SnoMedCT:40488004(Fanconi syndrome), SnoMedCT:62332007(Infantile nephropathic cystinosis), UMLS:C0015624(C0015624), MedDRA:10011871(De Toni-Fanconi syndrome), NDFRT:N0000001208(Fanconi Syndrome [Disease/Finding]), MONDO:MONDO:0001083(Fanconi renotubular syndrome) +PA444153 Fatigue Lacking in energy, Lassitude, Loss of energy, [D]Fatigue, [D]Tiredness MeSH:D005221(Fatigue), SnoMedCT:206767001([D]Fatigue), SnoMedCT:206771003([D]Tiredness), SnoMedCT:248274002(Lack of energy), SnoMedCT:84229001(Fatigue), UMLS:C0015672(C0015672), MedDRA:10057841(Energy decreased), NDFRT:N0000001216(Fatigue [Disease/Finding]), HP:HP:0012378(Fatigue) +PA446215 Fatigue Syndrome, Chronic """Chronic Fatigue Disorder"", ""Chronic Fatigue Disorders"", ""Chronic Fatigue Fibromyalgia Syndrome"", ""Chronic Fatigue Syndrome"", ""Chronic Fatigue Syndromes"", ""Chronic Fatigue and Immune Dysfunction Syndrome"", ""Chronic Fatigue-Fibromyalgia Syndrome"", ""Chronic Fatigue-Fibromyalgia Syndromes"", ""Disorders, Chronic Fatigue"", ""Encephalomyelitis, Myalgic"", ""Fatigue Disorder, Chronic"", ""Fatigue Disorders, Chronic"", ""Fatigue Syndrome, Postviral"", ""Fatigue Syndromes, Chronic"", ""Fatigue Syndromes, Postviral"", ""Fatigue-Fibromyalgia Syndrome, Chronic"", ""Fatigue-Fibromyalgia Syndromes, Chronic"", ""Iceland disease"", ""Infectious Mononucleosis Like Syndrome, Chronic"", ""Infectious Mononucleosis-Like Syndrome, Chronic"", ""Myalgic Encephalomyelitis"", ""Postviral Fatigue Syndrome"", ""Postviral Fatigue Syndromes"", ""Postviral fatigue syndrome"", ""Postviral fatigue syndrome, NOS"", ""Royal Free Disease"", ""Syndrome, Chronic Fatigue-Fibromyalgia"", ""Syndromes, Chronic Fatigue-Fibromyalgia"", ""Syndromes, Postviral Fatigue""" """MeSH:D015673(Fatigue Syndrome, Chronic)"", ""SnoMedCT:51771007(Postviral fatigue syndrome)"", ""SnoMedCT:52702003(Chronic fatigue syndrome)"", ""UMLS:C0015674(C0015674)"", ""MedDRA:10008874(Chronic fatigue syndrome)"", ""NDFRT:N0000003304(Fatigue Syndrome, Chronic [Disease/Finding])"", ""MONDO:MONDO:0005404(myalgic encephalomeyelitis/chronic fatigue syndrome)""" +PA444154 Fatty liver disease """Fatty Livers"", ""Fatty liver"", ""Hepatic lipidosis"", ""Liver, Fatty"", ""Livers, Fatty"", ""MASLD"", ""NAFLD"", ""Steatosis of liver"", ""metabolic-dysfunction-associated steatotic liver disease"", ""nonalcoholic fatty liver disease""" MeSH:D005234(Fatty Liver), SnoMedCT:197321007(Steatosis of liver), SnoMedCT:371330000(Fatty liver), UMLS:C0015695(C0015695), MedDRA:10012147(Degeneration fatty liver), NDFRT:N0000001217(Fatty Liver [Disease/Finding]), MONDO:MONDO:0004790(fatty liver disease) +PA165108889 Favism MeSH:D005236(Favism), SnoMedCT:191172001(Favism), UMLS:C0015702(C0015702), MedDRA:10016268(Favism), NDFRT:N0000001219(Favism [Disease/Finding]), MONDO:MONDO:0001761(favism) +PA166170245 Febrile neutropenia MeSH:D064147(Febrile Neutropenia), SnoMedCT:409089005(Febrile neutropenia), MedDRA:10016288(Febrile neutropenia) +PA142188754 Feingold Syndrome SnoMedCT:702431004(Feingold syndrome), MedDRA:10086632(Feingold syndrome), MONDO:MONDO:0015267(Feingold syndrome) +PA166048913 Female Gender NDFRT:N0000010200(Female Gender) +PA444261 Female reproductive system neoplasm """Female Genital Neoplasm"", ""Female Genital Neoplasms"", ""Genital Neoplasm, Female"", ""Gynecologic Neoplasm"", ""Gynecologic Neoplasms"", ""Neoplasm of female genital organ"", ""Neoplasm, Female Genital"", ""Neoplasm, Gynecologic"", ""Neoplasms, Female Genital"", ""Neoplasms, Gynecologic"", ""Tumour of female genital organs""" """MeSH:D005833(Genital Neoplasms, Female)"", ""SnoMedCT:126907002(Neoplasm of female genital organ)"", ""UMLS:C0017416(C0017416)"", ""MedDRA:10061153(Female reproductive neoplasm)"", ""NDFRT:N0000001325(Genital Neoplasms, Female [Disease/Finding])"", ""MONDO:MONDO:0021148(female reproductive system neoplasm)"", ""HP:HP:0033020(Female reproductive system neoplasm)""" +PA444167 Fetal Alcohol Syndrome Fetal Alcohol Syndromes, Fetal alcohol syndrome, Fetus OR newborn affected by alcohol transmitted via placenta AND/OR breast milk, Fetus or newborn affected by alcohol transmitted via placenta or breast milk, Foetal alcohol syndrome, Foetus OR newborn affected by alcohol transmitted via placenta AND/OR breast milk, Foetus and newborn affected by maternal use of alcohol MeSH:D063647(Fetal Alcohol Spectrum Disorders), SnoMedCT:205788004(Fetal alcohol syndrome), SnoMedCT:205791004(Foetus and newborn affected by maternal use of alcohol), SnoMedCT:36558000(Foetus OR newborn affected by alcohol transmitted via placenta AND/OR breast milk), UMLS:C0015923(C0015923), MedDRA:10001591(Alcohol affecting fetus or newborn via placenta or breast milk), NDFRT:N0000001230(Fetal Alcohol Syndrome [Disease/Finding]), MONDO:MONDO:0000408(fetal alcohol spectrum disorder), MONDO:MONDO:0016011(fetal alcohol syndrome), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA444169 Fetal Death """Antenatal death"", ""Death, Fetal"", ""Deaths, Fetal"", ""FDIU - Fetal death in utero"", ""Fetal Deaths"", ""Fetal death"", ""IUD - Intrauterine death"", ""IUFD - Intrauterine fetal death"", ""Intrauterine death NOS"", ""Stillbirth"", ""Stillbirths""" MeSH:D005313(Fetal Death), SnoMedCT:199605001(Intrauterine fetal death), SnoMedCT:199606000(Intrauterine death unspecified), SnoMedCT:199609007(Intrauterine death NOS), SnoMedCT:276507005(Fetal death), UMLS:C0015927(C0015927), MedDRA:10011908(Death fetal), NDFRT:N0000001232(Fetal Death [Disease/Finding]), cpgxTags:pgkbTags:1452102240(Maternal Health), HP:HP:0003826(Stillbirth) +PA444171 Fetal Distress """Distress, Fetal"", ""Distresses, Fetal"", ""Fetal Distresses"", ""Fetal distress"", ""Fetal distress NOS"", ""Fetal distress unspecified"", ""Foetal distress"", ""Nonreassuring fetal status"", ""Nonreassuring foetal status""" cpgxTags:pgkbTags:1452102240(Maternal Health), HP:HP:0025116(Fetal distress) +PA444172 Fetal Growth Restriction """FGR - Fetal growth retardation"", ""Fetal Growth Restriction"", ""Fetal growth retardation"", ""Fetal growth retardation NOS"", ""Fetal growth retardation, NOS"", ""Foetal growth retardation, NOS"", ""Growth Retardation, Fetal"", ""Growth Retardation, Intrauterine"", ""IUGR"", ""Intrauterine Growth Retardation"", ""Intrauterine growth retardation"", ""Microsomia"", ""Microsomic baby"", ""Poor fetal growth"", ""Poor fetal growth state"", ""Retardation, Fetal Growth"", ""Retardation, Intrauterine Growth""" MeSH:D005317(Fetal Growth Retardation), SnoMedCT:22033007(Fetal growth retardation), SnoMedCT:268815007(Fetal growth retardation NOS), UMLS:C0015934(C0015934), MedDRA:10054746(Fetal growth retardation), NDFRT:N0000001235(Fetal Growth Retardation [Disease/Finding]), MONDO:MONDO:0005030(fetal growth restriction), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA444178 Fever Body temperature above normal, Body temperature above reference range, Febrile, Fevers, Has a temperature, Hyperthermia, Hyperthermias, Increased body temperature, Pyrexia, Pyrexia [D], Pyrexias, Temperature elevated, Temperature raised MeSH:D005334(Fever), SnoMedCT:274234009([D]Pyrexia), SnoMedCT:367493005(Increased body temperature), SnoMedCT:386661006(Fever), SnoMedCT:50177009(Body temperature above reference range), UMLS:C0015967(C0015967), MedDRA:10005911(Body temperature increased), NDFRT:N0000001242(Fever [Disease/Finding]), HP:HP:0001945(Fever) +PA153626879 FG Syndrome SnoMedCT:49984004(FG syndrome), UMLS:C0220769(C0220769), MONDO:MONDO:0002010(FG syndrome) +PA165108623 Fibrocystic disease of breast Chronic cystic mastitis, Schimmelbusch's disease MeSH:D005348(Fibrocystic Breast Disease), SnoMedCT:27431007(Fibrocystic disease of breast), UMLS:C0016034(C0016034), MedDRA:10006222(Breast cystic fibrosis), NDFRT:N0000001244(Fibrocystic Breast Disease [Disease/Finding]), MONDO:MONDO:0003725(breast adenosis), MONDO:MONDO:0005219(breast fibrocystic disease) +PA444186 Fibromyalgia """Diffuse Myofascial Pain Syndrome"", ""Diffuse myofascial pain syndrome"", ""Fibromyalgia Fibromyositis Syndrome"", ""Fibromyalgia, NOS"", ""Fibromyalgia, Primary"", ""Fibromyalgia, Secondary"", ""Fibromyalgia-Fibromyositis Syndrome"", ""Fibromyalgia-Fibromyositis Syndromes"", ""Fibromyalgias"", ""Fibromyalgias, Primary"", ""Fibromyalgias, Secondary"", ""Fibromyositis"", ""Fibromyositis Fibromyalgia Syndrome"", ""Fibromyositis NOS"", ""Fibromyositis, NOS"", ""Fibromyositis-Fibromyalgia Syndrome"", ""Fibromyositis-Fibromyalgia Syndromes"", ""Fibrositides"", ""Fibrositis"", ""Fibrositis unspecified"", ""Fibrositis, NOS"", ""MPDS - Myofacial pain dysfunction syndrome"", ""Muscular Rheumatism"", ""Muscular rheumatism"", ""Myofacial pain dysfunction syndrome"", ""Myofascial Pain Syndrome, Diffuse"", ""Myofascial pain syndrome"", ""Primary Fibromyalgia"", ""Primary Fibromyalgias"", ""Rheumatism, Muscular"", ""Secondary Fibromyalgia"", ""Secondary Fibromyalgias"", ""Syndrome, Fibromyalgia-Fibromyositis"", ""Syndrome, Fibromyositis-Fibromyalgia"", ""Syndromes, Fibromyalgia-Fibromyositis"", ""Syndromes, Fibromyositis-Fibromyalgia""" MeSH:D005356(Fibromyalgia), SnoMedCT:203101004(Fibrositis unspecified), SnoMedCT:203102006(Muscular rheumatism), SnoMedCT:203111006(Fibromyositis NOS), SnoMedCT:24693007(Fibromyositis), SnoMedCT:56557000(Fibrositis), UMLS:C0016053(C0016053), MedDRA:10048439(Fibromyalgia), NDFRT:N0000001250(Fibromyalgia [Disease/Finding]), MONDO:MONDO:0005546(fibromyalgia) +PA444184 Fibrosarcoma Fibrosarcomas MeSH:D005354(Fibrosarcoma), SnoMedCT:53654007(Fibrosarcoma), UMLS:C0016057(C0016057), MedDRA:10016632(Fibrosarcoma), NDFRT:N0000001248(Fibrosarcoma [Disease/Finding]), MONDO:MONDO:0005164(fibrosarcoma), HP:HP:0100244(Fibrosarcoma) +PA444190 Filariasis """Elaeophoriases"", ""Elaeophoriasis"", ""Filariases"", ""Filarioidea Infection"", ""Filarioidea Infections"", ""Filariosis"", ""Infection, Filarioidea"", ""Infections, Filarioidea""" MeSH:D005368(Filariasis), SnoMedCT:105706003(Disease due to superfamily Filarioidea), SnoMedCT:187161002(Filariasis NOS), UMLS:C0016085(C0016085), MedDRA:10016674(Filariasis), NDFRT:N0000001254(Filariasis [Disease/Finding]), MONDO:MONDO:0016075(filariasis) +PA166048889 Flail Chest NDFRT:N0000001259(Flail Chest), HP:HP:0030207(Paradoxical respiration) +PA444199 Flushing Flushes, Flushings, [D]Flushing MeSH:D005483(Flushing), SnoMedCT:206902002([D]Flushing), SnoMedCT:238810007(Flushing), SnoMedCT:271811009(Face goes red), UMLS:C0016382(C0016382), MedDRA:10016046(Facial flushing), NDFRT:N0000001263(Flushing [Disease/Finding]), HP:HP:0031284(Flushing) +PA444200 Focal Dermal Hypoplasia """Dermal Hypoplasia, Focal"", ""Dermal Hypoplasias, Focal"", ""FODH - Focal dermal hypoplasia"", ""Focal Dermal Hypoplasias"", ""Focal dermal hypoplasia syndrome"", ""Focal facial dermal dysplasia"", ""Goltz Syndrome"", ""Goltz syndrome"", ""Goltz's Syndrome"", ""Goltz-Gorlin syndrome"", ""Goltzs Syndrome"", ""Hypoplasia, Focal Dermal"", ""Hypoplasias, Focal Dermal"", ""Syndrome, Goltz"", ""Syndrome, Goltz's""" MeSH:D005489(Focal Dermal Hypoplasia), SnoMedCT:205573006(Focal dermal hypoplasia), SnoMedCT:2298005(Goltz syndrome), UMLS:C0016395(C0016395), NDFRT:N0000001264(Focal Dermal Hypoplasia [Disease/Finding]), MONDO:MONDO:0010592(focal dermal hypoplasia) +PA444289 Focal Segmental Glomerulosclerosis """FGS - Focal glomerulosclerosis"", ""FSGS - Focal segmental glomerulosclerosis"", ""Focal Glomeruloscleroses"", ""Focal Glomerulosclerosis"", ""Focal Sclerosing Glomerulonephritides"", ""Focal Sclerosing Glomerulonephritis"", ""Focal glomerular sclerosis"", ""Focal glomerulosclerosis"", ""Focal segmental glomerulosclerosis"", ""Glomerulonephritides, Focal Sclerosing"", ""Glomerulonephritis, Focal Sclerosing"", ""Glomeruloscleroses, Focal"", ""Glomerulosclerosis, Focal"", ""Hyalinoses, Segmental"", ""Hyalinosis, Segmental"", ""Sclerosing Glomerulonephritides, Focal"", ""Sclerosing Glomerulonephritis, Focal"", ""Segmental Hyalinoses"", ""Segmental Hyalinosis""" """MeSH:D005923(Glomerulosclerosis, Focal Segmental)"", ""SnoMedCT:236403004(Focal segmental glomerulosclerosis)"", ""SnoMedCT:25821008(Focal glomerular sclerosis)"", ""UMLS:C0017668(C0017668)"", ""MedDRA:10016832(Focal & segmental glomerulosclerosis)"", ""NDFRT:N0000001353(Glomerulosclerosis, Focal Segmental [Disease/Finding])"", ""MONDO:MONDO:0100313(focal segmental glomerulosclerosis)"", ""HP:HP:0000097(Focal segmental glomerulosclerosis)""" +PA444203 Folic Acid Deficiency Anemia """Acid Deficiencies, Folic"", ""Acid Deficiency, Folic"", ""Deficiencies, Folic Acid"", ""Deficiency of folic acid"", ""Deficiency, Folic Acid"", ""Folic Acid Deficiencies"", ""Folic acid deficiency""" MeSH:D005494(Folic Acid Deficiency), SnoMedCT:190633005(Folic acid deficiency), UMLS:C0016412(C0016412), MedDRA:10016880(Folate deficiency), NDFRT:N0000001267(Folic Acid Deficiency [Disease/Finding]), MONDO:MONDO:0001860(folic acid deficiency anemia) +PA444841 Follicular Lymphoma """Brill Symmers Disease"", ""Brill-Symmers Disease"", ""Disease, Brill-Symmers"", ""Follicular Lymphoma"", ""Follicular Lymphoma, Giant"", ""Follicular Lymphomas"", ""Follicular Lymphomas, Giant"", ""Follicular low grade B-cell lymphoma"", ""Follicular non-Hodgkin's lymphoma"", ""Germinoblastoma, follicular"", ""Giant Follicular Lymphoma"", ""Giant Follicular Lymphomas"", ""Lymphoma, Giant Follicular"", ""Lymphoma, Nodular"", ""Lymphomas, Follicular"", ""Lymphomas, Giant Follicular"", ""Lymphomas, Nodular"", ""Malignant lymphoma, follicular"", ""Malignant lymphoma, lymphocytic, nodular, NOS"", ""Malignant lymphoma, nodular"", ""Nodular Lymphoma"", ""Nodular Lymphomas"", ""Nodular lymphoma of unspecified site"", ""Nodular malignant lymphoma""" """MeSH:D008224(Lymphoma, Follicular)"", ""SnoMedCT:188608008(Nodular lymphoma of unspecified site)"", ""SnoMedCT:188617008(Nodular lymphoma NOS)"", ""SnoMedCT:269476000(Nodular lymphoma)"", ""SnoMedCT:277618009(Follicular low grade B-cell lymphoma)"", ""SnoMedCT:307637005(Malignant lymphoma, centroblastic-centrocytic, follicular)"", ""SnoMedCT:308121000(Follicular non-Hodgkin's lymphoma)"", ""SnoMedCT:55150002(Follicular lymphoma)"", ""UMLS:C0024301(C0024301)"", ""MedDRA:10029473(Nodular (follicular) lymphoma)"", ""NDFRT:N0000001906(Lymphoma, Follicular [Disease/Finding])"", ""MONDO:MONDO:0018906(follicular lymphoma)"", ""HP:HP:0033125(Follicular lymphoma)""" +PA444206 Food Hypersensitivity """Allergies, Food"", ""Allergy, Food"", ""Food Allergies"", ""Food Allergy"", ""Food Hypersensitivities"", ""Food allergy"", ""Hypersensitivities, Food"", ""Hypersensitivity, Food""" MeSH:D005512(Food Hypersensitivity), SnoMedCT:414285001(Food allergy), UMLS:C0016470(C0016470), MedDRA:10016946(Food allergy), NDFRT:N0000001270(Food Hypersensitivity [Disease/Finding]), MONDO:MONDO:0700226(food allergy) +PA444208 Foot Deformities """Cavus Deformities"", ""Cavus Deformity"", ""Deformities, Cavus"", ""Deformities, Foot"", ""Deformities, Metatarsal"", ""Deformity of foot"", ""Deformity, Cavus"", ""Deformity, Foot"", ""Deformity, Metatarsal"", ""Foot Deformity"", ""Metatarsal Deformities"", ""Metatarsal Deformity"", ""Pes Cavus"", ""Talipes Cavus""" MeSH:D005530(Foot Deformities), SnoMedCT:229844004(Deformity of foot), UMLS:C0016506(C0016506), MedDRA:10061159(Foot deformity), NDFRT:N0000001272(Foot Deformities [Disease/Finding]), HP:HP:0001760(Abnormal foot morphology) +PA444222 Fractures, Bone """Broken bone"", ""Compression fracture"", ""Fracture"", ""Fracture NOS"", ""Fracture of bones NOS"", ""Fracture of unspecified bones"", ""Fracture, NOS"", ""Fractures"", ""Fractures, Compression""" """MeSH:D050723(Fractures, Bone)"", ""SnoMedCT:125605004(Fracture of bone)"", ""SnoMedCT:208744007(Fracture of bones NOS)"", ""SnoMedCT:217171007(Fracture, cause unspecified)"", ""SnoMedCT:269102008(Fracture of unspecified bones)"", ""SnoMedCT:269323009(Fracture NOS)"", ""SnoMedCT:72704001(Fracture)"", ""UMLS:C0016658(C0016658)"", ""MedDRA:10006381(Broken bones)"", ""NDFRT:N0000171696(Fractures, Bone [Disease/Finding])"", ""MONDO:MONDO:0005315(bone fracture)""" +PA444227 Fragile X Syndrome """FRAXA Syndrome"", ""FRAXA Syndromes"", ""FRAXE Syndrome"", ""FRAXE Syndromes"", ""Fragile X Syndromes"", ""Marker X syndrome"", ""Martin Bell Syndrome"", ""Martin-Bell Syndrome"", ""Martin-Bell syndrome"", ""Syndrome, FRAXA"", ""Syndrome, FRAXE"", ""Syndrome, Fragile X"", ""Syndrome, Martin-Bell"", ""Syndromes, FRAXA"", ""Syndromes, FRAXE"", ""Syndromes, Fragile X""" MeSH:D005600(Fragile X Syndrome), SnoMedCT:613003(Fragile X syndrome), UMLS:C0016667(C0016667), MedDRA:10017324(Fragile X syndrome), NDFRT:N0000001290(Fragile X Syndrome [Disease/Finding]), MONDO:MONDO:0010383(fragile X syndrome) +PA444229 Friedreich Ataxia """Ataxia, Freidreich's"", ""Ataxia, Friedreich"", ""Ataxia, Friedreich Familial"", ""Ataxia, Friedreich Hereditary"", ""Ataxia, Friedreich Spinocerebellar"", ""Ataxia, Friedreich's"", ""Ataxia, Friedreich's Familial"", ""Ataxia, Friedreich's Hereditary"", ""Ataxias, Friedreich"", ""Ataxias, Friedreich's Hereditary"", ""Disease, Friedreich"", ""Disease, Friedreich's"", ""FA - Friedreich ataxia"", ""Familial Ataxia, Friedreich"", ""Familial Ataxia, Friedreich's"", ""Familial ataxia"", ""Freidreich's Ataxia"", ""Friedreich Ataxias"", ""Friedreich Disease"", ""Friedreich Familial Ataxia"", ""Friedreich Hereditary Ataxia"", ""Friedreich Hereditary Spinal Ataxia"", ""Friedreich Spinocerebellar Ataxia"", ""Friedreich's Ataxia"", ""Friedreich's Disease"", ""Friedreich's Familial Ataxia"", ""Friedreich's Hereditary Ataxia"", ""Friedreich's Hereditary Ataxias"", ""Friedreich's Hereditary Spinal Ataxia"", ""Friedreich's ataxia"", ""Friedreich's disease"", ""Friedreichs Familial Ataxia"", ""Hereditary Ataxia, Friedreich"", ""Hereditary Ataxia, Friedreich's"", ""Hereditary Ataxias, Friedreich's"", ""Hereditary Spinal Ataxia, Friedreich"", ""Hereditary Spinal Ataxia, Friedreich's"", ""Hereditary Spinal Scleroses"", ""Hereditary Spinal Sclerosis"", ""Hereditary ataxia"", ""Scleroses, Hereditary Spinal"", ""Sclerosis, Hereditary Spinal"", ""Spinal Scleroses, Hereditary"", ""Spinal Sclerosis, Hereditary"", ""Spinocerebellar Ataxia, Friedreich""" MeSH:D005621(Friedreich Ataxia), SnoMedCT:10394003(Friedreich's ataxia), UMLS:C0016719(C0016719), MedDRA:10017374(Friedreich's ataxia), NDFRT:N0000001292(Friedreich Ataxia [Disease/Finding]), MONDO:MONDO:0100339(Friedreich ataxia) +PA166048820 Frostbite NDFRT:N0000001293(Frostbite), MONDO:MONDO:0800177(frostbite) +PA445009 Fungal infectious disease """Disease caused by fungus"", ""Disease caused by fungus, NOS"", ""Disease, Fungus"", ""Diseases, Fungus"", ""Fungal infection"", ""Fungal infection, NOS"", ""Fungal infectious disease"", ""Fungal infectious disease, NOS"", ""Fungus Disease"", ""Fungus Diseases"", ""Fungus infection"", ""Fungus infection, NOS"", ""Mycoses NOS"", ""Mycosis"", ""Mycosis, NOS""" MeSH:D009181(Mycoses), SnoMedCT:187110007(Mycoses NOS), SnoMedCT:3218000(Mycosis), UMLS:C0026946(C0026946), MedDRA:10017533(Fungal infection), NDFRT:N0000002075(Mycoses [Disease/Finding]), MONDO:MONDO:0002041(fungal infectious disease) +PA166048754 G6PD Deficiency Glucosephosphate Dehydrogenase Deficiency MeSH:D005955(Glucosephosphate Dehydrogenase Deficiency), MedDRA:10075677(G6PD deficiency), NDFRT:N0000001360(Glucosephosphate Dehydrogenase Deficiency), MONDO:MONDO:0005775(G6PD deficiency) +PA444239 Galactorrhea Galactorrhea due to non-obstetric cause, Galactorrheas, Galactorrhoea due to non-obstetric cause, Milk from non-pregnant breast MeSH:D005687(Galactorrhea), SnoMedCT:198115002(Galactorrhoea due to non-obstetric cause), SnoMedCT:78622004(Galactorrhea not associated with childbirth), UMLS:C0235660(C0235660), MedDRA:10017592(Galactorrhea), NDFRT:N0000001302(Galactorrhea [Disease/Finding]), MONDO:MONDO:0009256(galactorrhea), HP:HP:0100829(Galactorrhea) +PA444240 Galactosemias """Classic Galactosemia"", ""Classic Galactosemias"", ""Deficiency Disease, Galactokinase"", ""Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase"", ""Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase"", ""Deficiency Disease, UDP Galactose 4 Epimerase"", ""Deficiency Disease, UDP-Galactose-4-Epimerase"", ""Deficiency Disease, UDPglucose 4 Epimerase"", ""Deficiency Disease, UDPglucose 4-Epimerase"", ""Deficiency Diseases, UDP-Galactose-4-Epimerase"", ""Disease, UDP-Galactose-4-Epimerase Deficiency"", ""Diseases, UDP-Galactose-4-Epimerase Deficiency"", ""Galactokinase Deficiency Disease"", ""Galactokinase Deficiency Diseases"", ""Galactosaemia"", ""Galactosaemia NOS"", ""Galactose 1 Phosphate Uridyl Transferase Deficiency Disease"", ""Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease"", ""Galactosemia"", ""Galactosemia NOS"", ""Galactosemia, Classic"", ""Galactosemias, Classic"", ""UDP Galactose 4 Epimerase Deficiency Disease"", ""UDP-Galactose-4-Epimerase Deficiency Disease"", ""UDP-Galactose-4-Epimerase Deficiency Diseases"", ""UDPglucose 4 Epimerase Deficiency Disease"", ""UDPglucose 4-Epimerase Deficiency Disease"", ""UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency"", ""UTP Hexose-1-Phosphate Uridylyltransferase Deficiency""" MeSH:D005693(Galactosemias), SnoMedCT:190745006(Galactosaemia), SnoMedCT:190747003(Galactosemia NOS), UMLS:C0016952(C0016952), MedDRA:10017604(Galactosaemia), NDFRT:N0000001303(Galactosemias [Disease/Finding]), MONDO:MONDO:0018116(galactosemia) +PA444242 Gallbladder Neoplasms """Cancer of Gallbladder"", ""Cancer of the Gallbladder"", ""Cancer, Gallbladder"", ""Cancers, Gallbladder"", ""Gallbladder Cancer"", ""Gallbladder Cancers"", ""Gallbladder Neoplasm"", ""Neoplasm, Gallbladder"", ""Neoplasms, Gallbladder"", ""Tumor of gallbladder"", ""Tumour of gallbladder""" MeSH:D005706(Gallbladder Neoplasms), SnoMedCT:126854002(Neoplasm of gallbladder), UMLS:C0016978(C0016978), MedDRA:10050034(Gallbladder tumor), NDFRT:N0000001305(Gallbladder Neoplasms [Disease/Finding]), MONDO:MONDO:0021253(gallbladder neoplasm) +PA446343 Gangliosidosis GM1 """Adult Gangliosidosis GM1"", ""Beta-galactosidase deficiency"", ""Deficiency of beta-galactosidase"", ""G(M1) Gangliosidosis"", ""GM1 Gangliosidosis"", ""GM1 gangliosidosis"", ""GM>1< gangliosidosis, NOS"", ""Gangliosidosis G(M1)"", ""Gangliosidosis GM1, Adult"", ""Gangliosidosis GM1, Infantile"", ""Gangliosidosis GM1, Juvenile"", ""Gangliosidosis GM1, Type 1"", ""Gangliosidosis GM1, Type 2"", ""Gangliosidosis GM1, Type 3"", ""Gangliosidosis, GM1"", ""Gangliosidosis, Generalized"", ""Generalized Gangliosidosis"", ""Infantile Gangliosidosis GM1"", ""Juvenile Gangliosidosis GM1"", ""beta-Galactosidase deficiency""" """MeSH:D016537(Gangliosidosis, GM1)"", ""SnoMedCT:124465002(Deficiency of beta-galactosidase)"", ""SnoMedCT:238025006(GM1 gangliosidosis)"", ""SnoMedCT:32917001(GM>1< gangliosidosis)"", ""UMLS:C0085131(C0085131)"", ""NDFRT:N0000003432(Gangliosidosis, GM1 [Disease/Finding])"", ""MONDO:MONDO:0018149(GM1 gangliosidosis)""" +PA444245 Gangrene """Gangrene, NOS"", ""Gangrenes"", ""Gangrenous"", ""Gangrenous disorder"", ""[D]Gangrene""" MeSH:D005734(Gangrene), SnoMedCT:207019006([D]Gangrene), SnoMedCT:36024000(Gangrene), SnoMedCT:372070002(Gangrenous disorder), UMLS:C0017086(C0017086), MedDRA:10017711(Gangrene), NDFRT:N0000001309(Gangrene [Disease/Finding]), HP:HP:0100758(Gangrene) +PA166048846 Gastric Outlet Obstruction NDFRT:N0000003555(Gastric Outlet Obstruction), MONDO:MONDO:0001561(pyloric stenosis) +PA166123203 Gastric pH Gastric pH, intragastric ph MedDRA:10060024(Gastric pH) +PA444250 Gastritis """Gastritides"", ""Gastritis unspecified"", ""Gastritis, NOS""" MeSH:D005756(Gastritis), SnoMedCT:196743006(Gastritis unspecified), SnoMedCT:4556007(Gastritis), UMLS:C0017152(C0017152), MedDRA:10017790(Gastric inflammation), NDFRT:N0000001314(Gastritis [Disease/Finding]), MONDO:MONDO:0004966(gastritis), HP:HP:0005263(Gastritis) +PA444253 Gastroenteritis """GE - Gastroenteritis"", ""Gastroenteritides"", ""Gastroenteritis, NOS"", ""Gastroenteropathy""" MONDO:MONDO:0002269(gastroenteritis) +PA166153403 Gastroesophageal Cancer Gastroesophageal Neoplasms MedDRA:10056267(Gastroesophageal cancer), MONDO:MONDO:0850129(gastroesophageal cancer) +PA444255 Gastroesophageal Reflux """Esophageal Reflux"", ""Esophageal reflux"", ""GERD - Gastro-esophageal reflux disease"", ""GOR - Gastro-esophageal reflux"", ""GORD - Gastro-oesophageal reflux disease"", ""Gastric Regurgitation"", ""Gastric Regurgitations"", ""Gastro Esophageal Reflux"", ""Gastro-Esophageal Reflux"", ""Gastro-esophageal reflux"", ""Gastro-esophageal reflux disease"", ""Gastro-oesophageal reflux disease"", ""Oesophageal reflux"", ""Reflux, Esophageal"", ""Reflux, Gastro-Esophageal"", ""Reflux, Gastroesophageal"", ""Regurgitation, Gastric"", ""Regurgitations, Gastric""" MeSH:D005764(Gastroesophageal Reflux), SnoMedCT:235595009(Gastroesophageal reflux disease), UMLS:C0017168(C0017168), MedDRA:10015389(Esophageal reflux), NDFRT:N0000001319(Gastroesophageal Reflux [Disease/Finding]), MONDO:MONDO:0007186(gastroesophageal reflux disease), HP:HP:0002020(Gastroesophageal reflux) +PA444256 Gastrointestinal Diseases """Disease of digestive tract, NOS"", ""Disease of gastrointestinal tract"", ""Disease, Gastrointestinal"", ""Diseases, Gastrointestinal"", ""Disorder of digestive tract"", ""Disorder of gastrointestinal tract"", ""Gastrointestinal Disease"", ""Gastrointestinal disorder, NOS"", ""Gastrointestinal tract disorders NOS""" MeSH:D005767(Gastrointestinal Diseases), SnoMedCT:119292006(Disorder of gastrointestinal tract), SnoMedCT:286978000(Gastrointestinal tract disorders NOS), SnoMedCT:84410009(Disorder of digestive tract), UMLS:C0017178(C0017178), MedDRA:10013225(Disorder gastrointestinal), NDFRT:N0000001320(Gastrointestinal Diseases [Disease/Finding]), MONDO:MONDO:0004335(digestive system disorder) +PA444418 Gastrointestinal Hemorrhage """GI bleeding"", ""GI bleeding, NOS"", ""GI hemorrhage"", ""GIH - Gastrointestinal haemorrhage"", ""Gastrointestinal Hemorrhages"", ""Gastrointestinal bleeding, NOS"", ""Gastrointestinal haemorrhage"", ""Gastrointestinal haemorrhage unspecified"", ""Gastrointestinal hemorrhage unspecified"", ""Hematochezia"", ""Hematochezias"", ""Hemorrhage, Gastrointestinal""" MeSH:D006471(Gastrointestinal Hemorrhage), SnoMedCT:197475002(Gastrointestinal tract hemorrhage NOS), SnoMedCT:266477005(Gastrointestinal hemorrhage unspecified), SnoMedCT:74474003(Gastrointestinal haemorrhage), UMLS:C0017181(C0017181), MedDRA:10005116(Bleeding gastrointestinal), NDFRT:N0000001482(Gastrointestinal Hemorrhage [Disease/Finding]), HP:HP:0002239(Gastrointestinal hemorrhage) +PA166318961 gastrointestinal microbiome Microbiome, Gastric MeSH:D000069196(Gastrointestinal Microbiome) +PA444257 Gastrointestinal Neoplasms """Cancer of Gastrointestinal System"", ""Cancer of the Gastrointestinal System"", ""Cancer, Gastrointestinal"", ""Cancers, Gastrointestinal"", ""Gastrointestinal Cancer"", ""Gastrointestinal Cancers"", ""Gastrointestinal Neoplasm"", ""Gastrointestinal System Cancer"", ""Gastrointestinal System Cancers"", ""Neoplasm of gastrointestinal tract"", ""Neoplasm, Gastrointestinal"", ""Neoplasms, Gastrointestinal""" MeSH:D005770(Gastrointestinal Neoplasms), SnoMedCT:126768004(Neoplasm of gastrointestinal tract), UMLS:C0017185(C0017185), MedDRA:10061174(Gastrointestinal neoplasm), NDFRT:N0000001321(Gastrointestinal Neoplasms [Disease/Finding]), MONDO:MONDO:0021223(digestive system neoplasm) +PA151958383 Gastrointestinal Stromal Tumors GIST - Gastrointestinal stromal tumor, Gastrointestinal stromal tumor, Gastrointestinal stromal tumors(GIST) MeSH:D046152(Gastrointestinal Stromal Tumors), SnoMedCT:420120006(Gastrointestinal stromal tumor), UMLS:C0238198(C0238198), MedDRA:10062427(Gastrointestinal stromal tumor), NDFRT:N0000011091(Gastrointestinal Stromal Tumors [Disease/Finding]), MONDO:MONDO:0011719(gastrointestinal stromal tumor) +PA166124386 Gastrointestinal toxicity MedDRA:10059024(Gastrointestinal toxicity) +PA446746 Gastroparesis """Gastric Stases"", ""Gastric Stasis"", ""Gastric atonia"", ""Gastric stasis"", ""Gastropareses"", ""Gastroparesis syndrome"", ""Stases, Gastric"", ""Stasis, Gastric""" MONDO:MONDO:0006769(gastroparesis), HP:HP:0002578(Gastroparesis) +PA446893 Gastroschisis Gastroschises MeSH:D020139(Gastroschisis), SnoMedCT:72951007(Gastroschisis), UMLS:C0265706(C0265706), MedDRA:10018046(Gastroschisis), NDFRT:N0000003997(Gastroschisis [Disease/Finding]), MONDO:MONDO:0009264(gastroschisis), HP:HP:0001543(Gastroschisis) +PA444258 Gaucher Disease """Acute Neuronopathic Gaucher Disease"", ""Cerebroside Lipidosis Syndrome"", ""Cerebroside Lipidosis Syndromes"", ""Cerebroside lipidosis syndrome"", ""Chronic Gaucher Disease"", ""Deficiency Disease, Glucocerebrosidase"", ""Deficiency Disease, Glucosylceramide Beta Glucosidase"", ""Deficiency Disease, Glucosylceramide Beta-Glucosidase"", ""Deficiency Diseases, Glucocerebrosidase"", ""Disease, Acute Neuronopathic Gaucher"", ""Disease, Chronic Gaucher"", ""Disease, Gaucher, Acute Neuronopathic"", ""Disease, Gaucher, Chronic"", ""Disease, Glucocerebrosidase Deficiency"", ""Diseases, Glucocerebrosidase Deficiency"", ""Gaucher Disease, Acute Neuronopathic"", ""Gaucher Disease, Chronic"", ""Gaucher Disease, Infantile"", ""Gaucher Disease, Juvenile"", ""Gaucher Disease, Neuronopathic"", ""Gaucher Disease, Non Neuronopathic Form"", ""Gaucher Disease, Non-Neuronopathic"", ""Gaucher Disease, Non-Neuronopathic Form"", ""Gaucher Disease, Subacute Neuronopathic Form"", ""Gaucher Disease, Type 1"", ""Gaucher Disease, Type 2"", ""Gaucher Disease, Type 3"", ""Gaucher disease"", ""Gaucher splenomegaly"", ""Gaucher syndrome"", ""Gaucher's Disease"", ""Gaucher's disease"", ""Gauchers Disease"", ""Glucocerebrosidase Deficiency Disease"", ""Glucocerebrosidase Deficiency Diseases"", ""Glucocerebrosidase deficiency"", ""Glucocerebrosidosis"", ""Glucosylceramidase deficiency"", ""Glucosylceramide Beta Glucosidase Deficiency Disease"", ""Glucosylceramide Beta-Glucosidase Deficiency Disease"", ""Glucosylceramide beta-glucosidase deficiency"", ""Infantile Gaucher Disease"", ""Juvenile Gaucher Disease"", ""Kerasin lipoidosis"", ""Kerasin thesaurismosis"", ""Neuronopathic Gaucher Disease"", ""Non Neuronopathic Gaucher Disease"", ""Non-Neuronopathic Gaucher Disease"", ""Noncerebral juvenile Gaucher's disease"", ""Subacute Neuronopathic Gaucher Disease"", ""Syndrome, Cerebroside Lipidosis"", ""Syndromes, Cerebroside Lipidosis"", ""Type 1 Gaucher Disease"", ""Type 2 Gaucher Disease"", ""Type 3 Gaucher Disease""" MeSH:D005776(Gaucher Disease), SnoMedCT:180485001(Kerasin thesaurismosis), SnoMedCT:190794006(Gaucher's disease), SnoMedCT:62201009(Chronic non-neuropathic Gaucher's disease), UMLS:C0017205(C0017205), MedDRA:10018048(Gaucher's disease), NDFRT:N0000001322(Gaucher Disease [Disease/Finding]), MONDO:MONDO:0018150(Gaucher disease) +PA165110335 Gerstmann Syndrome """Acquired Gerstmann Syndrome"", ""Acquired Gerstmann's Syndrome"", ""Developmental Gerstmann's Syndrome"", ""Developmental Gerstmanns Syndrome"", ""Finger-Agnosia-Left-Right-Confusion-Acalculia-Agraphias"", ""Gerstmann Syndrome, Acquired"", ""Gerstmann Syndrome, Developmental"", ""Gerstmann's Syndrome"", ""Gerstmann's Syndrome, Acquired"", ""Gerstmann's Syndrome, Developmental"", ""Syndrome, Acquired Gerstmann"", ""Syndrome, Acquired Gerstmann's"", ""Syndrome, Developmental Gerstmann"", ""Syndrome, Gerstmann""" MeSH:D005862(Gerstmann Syndrome), SnoMedCT:36785009(Aphasia-angular gyrus syndrome), UMLS:C0017494(C0017494), MedDRA:10048608(Gerstmann's syndrome), NDFRT:N0000001328(Gerstmann Syndrome [Disease/Finding]), MONDO:MONDO:0005773(Gerstmann syndrome) +PA165108364 Gestational hypertension """MeSH:D046110(Hypertension, Pregnancy-Induced)"", ""SnoMedCT:308551004(Gestational hypertension)"", ""UMLS:C0340274(C0340274)"", ""MedDRA:10035033(PIH Pregnancy induced hypertension)"", ""NDFRT:N0000011037(Hypertension, Pregnancy-Induced [Disease/Finding])"", ""MONDO:MONDO:0024664(hypertension, pregnancy-induced)"", ""cpgxTags:pgkbTags:1452102240(Maternal Health)""" +PA444265 Giant Cell Tumors """Cell Tumor, Giant"", ""Cell Tumors, Giant"", ""Giant Cell Tumor"", ""Giant cell tumor"", ""Tumor, Giant Cell"", ""Tumors, Giant Cell""" MONDO:MONDO:0002171(giant cell tumor) +PA444267 Giardiasis Giardial colitis, Giardial enteritis, Giardiases, Lambliases, Lambliasis MONDO:MONDO:0001103(giardiasis) +PA447281 Gilbert syndrome Benign unconjugated bilirubinaemia syndrome, Cholaemia familiaris simplex, Cholemia familiaris simplex, Chronic intermittent juvenile jaundice, Congenital familial cholaemia, Congenital familial cholemia, Constitutional hepatic dysfunction, Familial nonhaemolytic bilirubinaemia, Familial nonhaemolytic jaundice, Familial nonhemolytic bilirubinemia, Gilbert syndrome, Gilbert's syndrome, Gilbert-Lereboullet syndrome, Hereditary nonhaemolytic jaundice, Low-grade chronic hyperbilirubinaemia syndrome, Low-grade chronic hyperbilirubinemia syndrome, Meulengracht syndrome MeSH:D005878(Gilbert Disease), SnoMedCT:27503000(Gilbert's syndrome), UMLS:C0017551(C0017551), MedDRA:10018267(Gilbert's syndrome), NDFRT:N0000001333(Gilbert Disease [Disease/Finding]), MONDO:MONDO:0007745(Gilbert syndrome) +PA444273 Gingival Hyperplasia """Gingival Hyperplasias"", ""Hyperplasia, Gingival"", ""Hyperplasias, Gingival""" MeSH:D005885(Gingival Hyperplasia), SnoMedCT:93434009(Drug-induced gingival hyperplasia), UMLS:C0017566(Gingival hyperplasia), MedDRA:10018283(Gingival hyperplasia), NDFRT:N0000001337(Gingival Hyperplasia [Disease/Finding]), HP:HP:0000212(Gingival overgrowth) +PA446813 Gingival Overgrowth """Gingival Overgrowths"", ""Gingival bulge"", ""Gingival enlargement NOS"", ""Gingival enlargement, NOS"", ""Gingival hyperplasia"", ""Gingival hypertrophy"", ""Gingival hypertrophy, NOS"", ""Hypertrophy of gingivae"", ""Hypertrophy of gums"", ""Overgrowth, Gingival"", ""Overgrowths, Gingival""" MeSH:D019214(Gingival Overgrowth), SnoMedCT:271083000(Gingival enlargement NOS), SnoMedCT:54711002(Gingival enlargement), UMLS:C0376480(C0376480), NDFRT:N0000003903(Gingival Overgrowth [Disease/Finding]), MONDO:MONDO:0002507(gingival overgrowth), HP:HP:0000212(Gingival overgrowth) +PA445843 Glanzmann thrombasthenia """Glanzmann Thrombasthenia"", ""Hereditary hemorrhagic thrombasthenia"", ""Thrombasthenia, Glanzmann"", ""Thrombasthenias""" MeSH:D013915(Thrombasthenia), SnoMedCT:32942005(Glanzmann's thrombasthenia), UMLS:C0040015(C0040015), MedDRA:10018303(Glanzmann's disease), NDFRT:N0000002929(Thrombasthenia [Disease/Finding]), MONDO:MONDO:0031332(Glanzmann thrombasthenia 1), MONDO:MONDO:0100326(Glanzmann thrombasthenia) +PA444281 Glaucoma Glaucoma NOS, Glaucomas MeSH:D005901(Glaucoma), SnoMedCT:193569008(Glaucoma NOS), SnoMedCT:23986001(Glaucoma), UMLS:C0017601(C0017601), MedDRA:10018304(Glaucoma), NDFRT:N0000001345(Glaucoma [Disease/Finding]), MONDO:MONDO:0005041(glaucoma), HP:HP:0000501(Glaucoma) +PA166048716 Glaucoma, Angle-Closure MONDO:MONDO:0001744(angle-closure glaucoma) +PA444283 Glioblastoma """Astrocytoma, Grade IV"", ""Astrocytomas, Grade IV"", ""GLM - Glioblastoma multiforme"", ""Giant Cell Glioblastoma"", ""Giant Cell Glioblastomas"", ""Glioblastoma Multiforme"", ""Glioblastoma, Giant Cell"", ""Glioblastomas"", ""Glioblastomas, Giant Cell"", ""Grade IV Astrocytoma"", ""Grade IV Astrocytomas""" MeSH:D005909(Glioblastoma), SnoMedCT:63634009(Glioblastoma), UMLS:C0017636(C0017636), MedDRA:10018336(Glioblastoma), NDFRT:N0000001347(Glioblastoma [Disease/Finding]), MONDO:MONDO:0018177(glioblastoma) +PA444284 Glioma """Glial Cell Tumor"", ""Glial Cell Tumors"", ""Glioma, Malignant"", ""Glioma, Mixed"", ""Gliomas"", ""Gliomas, Malignant"", ""Gliomas, Mixed"", ""Malignant Glioma"", ""Malignant Gliomas"", ""Mixed Glioma"", ""Mixed Gliomas"", ""Tumor, Glial Cell"", ""Tumors, Glial Cell"", ""[M]Gliomas""" MeSH:D005910(Glioma), SnoMedCT:115240006(Glioma), UMLS:C0017638(C0017638), MedDRA:10018338(Glioma), NDFRT:N0000001348(Glioma [Disease/Finding]), MONDO:MONDO:0021042(glioma), MONDO:MONDO:0100342(malignant glioma), HP:HP:0009733(Glioma) +PA444288 Glomerulonephritis, IGA """Berger Disease"", ""Berger's Disease"", ""Berger's IgA or IgG nephropathy"", ""Bergers Disease"", ""Disease, Berger"", ""Disease, Berger's"", ""Focal glomerulonephritis"", ""Glomerulonephritides, IGA"", ""IGA Glomerulonephritides"", ""IGA Glomerulonephritis"", ""IGA Nephropathies"", ""IGA Nephropathy"", ""IgA nephropathy"", ""IgAN - IgA nephropathy"", ""Nephropathies, IGA"", ""Nephropathy, IGA""" """MeSH:D005922(Glomerulonephritis, IGA)"", ""SnoMedCT:197632002(Berger's IgA or IgG nephropathy)"", ""SnoMedCT:236407003(IgA nephropathy)"", ""SnoMedCT:68779003(Primary IgA nephropathy)"", ""UMLS:C0017661(C0017661)"", ""MedDRA:10018369(Glomerulonephritis focal)"", ""NDFRT:N0000001352(Glomerulonephritis, IGA [Disease/Finding])"", ""MONDO:MONDO:0005342(IgA glomerulonephritis)""" +PA446147 Glomerulonephritis, Membranous """Chronic nephritic syndrome, diffuse membranous glomerulonephritis (disorder)"", ""Extramembranous Glomerulopathies"", ""Extramembranous Glomerulopathy"", ""Glomerulonephritides, Idiopathic Membranous"", ""Glomerulonephritides, Membranous"", ""Glomerulonephritis, Idiopathic Membranous"", ""Glomerulonephropathies, Membranous"", ""Glomerulonephropathy, Membranous"", ""Glomerulopathies, Extramembranous"", ""Glomerulopathies, Membranous"", ""Glomerulopathy, Extramembranous"", ""Glomerulopathy, Membranous"", ""Idiopathic Membranous Glomerulonephritides"", ""Idiopathic Membranous Glomerulonephritis"", ""Idiopathic Membranous Nephropathies"", ""Idiopathic Membranous Nephropathy"", ""MGN"", ""Membranous Glomerulonephritides"", ""Membranous Glomerulonephritides, Idiopathic"", ""Membranous Glomerulonephritis"", ""Membranous Glomerulonephritis, Idiopathic"", ""Membranous Glomerulonephropathies"", ""Membranous Glomerulonephropathy"", ""Membranous Glomerulopathies"", ""Membranous Glomerulopathy"", ""Membranous Nephropathies"", ""Membranous Nephropathies, Idiopathic"", ""Membranous Nephropathy"", ""Membranous Nephropathy, Idiopathic"", ""Membranous glomerulonephritis"", ""Nephropathies, Idiopathic Membranous"", ""Nephropathies, Membranous"", ""Nephropathy, Idiopathic Membranous"", ""Nephropathy, Membranous""" """MeSH:D015433(Glomerulonephritis, Membranous)"", ""SnoMedCT:77182004(Membranous glomerulonephritis)"", ""UMLS:C0017665(C0017665)"", ""MedDRA:10018372(Glomerulonephritis membranous)"", ""NDFRT:N0000003237(Glomerulonephritis, Membranous [Disease/Finding])"", ""MONDO:MONDO:0005376(membranous glomerulonephritis)""" +PA447258 Glomerulosclerosis """FGS - Focal glomerulosclerosis"", ""FSGS - Focal segmental glomerulosclerosis"", ""Focal glomerular sclerosis"", ""Focal glomerulosclerosis"", ""Focal segmental glomerulosclerosis"", ""Glomerulosclerosis, Focal Segmental"", ""glomerulosclerosis""" SnoMedCT:197661001(Glomerulosclerosis), UMLS:C0178664(C0178664), MedDRA:10061989(Glomerulosclerosis), MONDO:MONDO:0000490(glomerulosclerosis) +PA446560 Glucose Intolerance """Chemical diabetes"", ""Glucose Intolerances"", ""Glucose intolerance"", ""IGT - Impaired glucose tolerance"", ""Intolerance, Glucose"", ""Intolerances, Glucose"", ""Malabsorption of glucose""" MeSH:D018149(Glucose Intolerance), SnoMedCT:267426009(Malabsorption of glucose), SnoMedCT:9414007(Impaired glucose tolerance), UMLS:C0271650(C0271650), MedDRA:10008423(Chemical diabetes), NDFRT:N0000003651(Glucose Intolerance [Disease/Finding]), MONDO:MONDO:0001076(glucose intolerance), HP:HP:0001952(Glucose intolerance) +PA444307 Goiter """Form of goiter"", ""Goiter NOS"", ""Goiter, NOS"", ""Goiters"", ""Goitre"", ""Goitre NOS"", ""Goitre, NOS"", ""Struma - goitre"", ""Struma of thyroid"", ""Swelling of thyroid gland"", ""Thyroid enlargement"", ""Thyromegaly""" MONDO:MONDO:0005397(goiter), HP:HP:0000853(Goiter) +PA165108808 Gonococcal conjunctivitis neonatorum Gonococcal ophthalmia neonatorum, Opthalmia neonatorum caused by Neisseria MONDO:MONDO:0004854(ophthalmia neonatorum) +PA165108639 Gonococcal infections NOS MeSH:D006069(Gonorrhea), SnoMedCT:266142004(Gonococcal infections NOS), UMLS:C0018081(C0018081), MedDRA:10018584(Gonococcal infections), NDFRT:N0000001380(Gonorrhea [Disease/Finding]), MONDO:MONDO:0004277(gonorrhea) +PA444318 Gout Gouts MeSH:D006073(Gout), SnoMedCT:190844004(Gout NOS), SnoMedCT:90560007(Gout), UMLS:C0018099(C0018099), MedDRA:10018627(Gout), NDFRT:N0000001382(Gout [Disease/Finding]), MONDO:MONDO:0005393(gout), HP:HP:0001997(Gout) +PA444320 Graft vs Host Disease """Disease, Graft-Versus-Host"", ""Disease, Graft-vs-Host"", ""Disease, Homologous Wasting"", ""Disease, Runt"", ""Diseases, Graft-Versus-Host"", ""Diseases, Graft-vs-Host"", ""GVHD - Graft-versus-host disease"", ""Graft Versus Host Disease"", ""Graft versus host disease"", ""Graft-Versus-Host Disease"", ""Graft-Versus-Host Diseases"", ""Graft-versus-host disease"", ""Graft-vs-Host Disease"", ""Graft-vs-Host Diseases"", ""Homologous Wasting Disease"", ""Runt Disease""" MeSH:D006086(Graft vs Host Disease), SnoMedCT:234646005(Graft versus host disease), UMLS:C0018133(C0018133), MedDRA:10018651(Graft versus host disease), NDFRT:N0000001384(Graft vs Host Disease [Disease/Finding]), MONDO:MONDO:0013730(graft versus host disease) +PA446415 Gram-Negative Bacterial Infections """Bacterial Infection, Gram-Negative"", ""Bacterial Infections, Gram Negative"", ""Bacterial Infections, Gram-Negative"", ""Gram Negative Bacterial Infections"", ""Gram-Negative Bacterial Infection"", ""Infection, Gram-Negative Bacterial"", ""Infections, Gram Negative Bacterial"", ""Infections, Gram-Negative Bacterial""" MeSH:D016905(Gram-Negative Bacterial Infections), SnoMedCT:371583007(Disease due to Gram-negative bacteria), UMLS:C0085423(C0085423), MedDRA:10018657(Gram-negative bacterial infection NOS), NDFRT:N0000003506(Gram-Negative Bacterial Infections [Disease/Finding]), MONDO:MONDO:0021678(gram-negative bacterial infections) +PA166048719 Gram-Positive Bacterial Infections NDFRT:N0000003507(Gram-Positive Bacterial Infections), MONDO:MONDO:0021679(gram-positive bacterial infections) +PA444321 Granuloma Granulomas MeSH:D006099(Granuloma), SnoMedCT:45647009(Granuloma), UMLS:C0018188(C0018188), MedDRA:10018691(Granuloma), NDFRT:N0000001385(Granuloma [Disease/Finding]), HP:HP:0032252(Granuloma) +PA444329 Graves Disease """Basedow Disease"", ""Basedow's Disease"", ""Basedow's disease"", ""Basedows Disease"", ""Disease, Basedow"", ""Disease, Basedow's"", ""Disease, Graves'"", ""Dysthroid orbitopathy"", ""Dysthyroid eye disease"", ""Dysthyroid orbitopathy"", ""Endocrine exophthalmos"", ""Endocrine ophthalmopathy"", ""Exophthalmic Goiter"", ""Exophthalmic Goiters"", ""Exophthalmic goiter"", ""Goiter, Exophthalmic"", ""Goiters, Exophthalmic"", ""Grave Disease"", ""Grave's Disease"", ""Graves Disease"", ""Graves Ophthalmopathy"", ""Graves eye disease"", ""Graves ophthalmopathy"", ""Graves' Disease"", ""Graves' disease"", ""Graves' eye disease"", ""Graves' ophthalmopathy"", ""Infiltrative Ophthalmopathies"", ""Infiltrative Ophthalmopathy"", ""Ophthalmic Graves disease"", ""Ophthalmopathies, Infiltrative"", ""Ophthalmopathies, Thyroid Associated"", ""Ophthalmopathies, Thyroid-Associated"", ""Ophthalmopathy, Infiltrative"", ""Ophthalmopathy, Thyroid Associated"", ""Ophthalmopathy, Thyroid-Associated"", ""Thyroid Associated Ophthalmopathies"", ""Thyroid Associated Ophthalmopathy"", ""Thyroid eye disease"", ""Thyroid ophthalmopathy"", ""Thyroid-Associated Ophthalmopathies"", ""Thyroid-Associated Ophthalmopathy"", ""Thyroid-associated ophthalmopathy"", ""Toxic diffuse goitre with exophthalmos""" MeSH:D006111(Graves Disease), MeSH:D049970(Graves Ophthalmopathy), SnoMedCT:276177000(Thyroid eye disease), SnoMedCT:353295004(Graves' disease), SnoMedCT:367367004(Basedow's disease), SnoMedCT:55807009(Toxic diffuse goitre with exophthalmos), UMLS:C0018213(C0018213), UMLS:C0339143(C0339143), MedDRA:10068004(Autoimmune hyperthyroidism), NDFRT:N0000171693(Graves Disease [Disease/Finding]), MONDO:MONDO:0005364(Graves disease), HP:HP:0100647(Graves disease) +PA165108496 Gray platelet syndrome Platelet alpha granule deficiency MeSH:D055652(Gray Platelet Syndrome), SnoMedCT:51720005(Gray platelet syndrome), UMLS:C0272302(C0272302), NDFRT:N0000181115(Gray Platelet Syndrome [Disease/Finding]), MONDO:MONDO:0007686(gray platelet syndrome) +PA444330 Growth Disorders """Disorder, Growth"", ""Growth Disorder""" MeSH:D006130(Growth Disorders), UMLS:C0018273(Growth Disorders [Disease/Finding]), NDFRT:N0000001394(Growth Disorders [Disease/Finding]), MONDO:MONDO:0015514(hereditary endocrine growth disease) +PA166176761 Growth hormone deficiency SnoMedCT:397827003(growth hormone deficiency), MedDRA:10056438(Growth hormone deficiency), HP:HP:0034323(Reduced circulating growth hormone concentration) +PA446988 Guillain-Barre Syndrome """AIDP"", ""Acute Autoimmune Neuropathies"", ""Acute Autoimmune Neuropathy"", ""Acute Inflammatory Demyelinating Polyradiculoneuropathy"", ""Acute Inflammatory Polyneuropathies"", ""Acute Inflammatory Polyneuropathy"", ""Acute Inflammatory Polyradiculoneuropathies"", ""Acute Inflammatory Polyradiculoneuropathy"", ""Acute idiopathic polyradiculoneuritis"", ""Acute infective polyneuritis"", ""Acute inflammatory demyelinating polyradiculoneuropathy"", ""Acute inflammatory neuropathy"", ""Acute post-infective radiculoneuropathy"", ""Ascending paralysis"", ""Autoimmune Neuropathies, Acute"", ""Autoimmune Neuropathy, Acute"", ""Demyelinating Polyradiculoneuropathy, Acute Inflammatory"", ""Guillain Barre Syndrome"", ""Guillain-Barre syndrome"", ""Guillain-Barré syndrome"", ""Guillaine Barre Syndrome"", ""Guillaine-Barre Syndrome"", ""Infectious neuronitis"", ""Inflammatory Demyelinating Polyradiculoneuropathy, Acute"", ""Inflammatory Polyneuropathies, Acute"", ""Inflammatory Polyneuropathy Acute"", ""Inflammatory Polyneuropathy, Acute"", ""Inflammatory Polyradiculoneuropathies, Acute"", ""Landry Guillain Barre Syndrome"", ""Landry-Guillain-Barre Syndrome"", ""Landry-Guillain-Barre syndrome"", ""Landry-Guillain-Barré syndrome"", ""Neuropathies, Acute Autoimmune"", ""Neuropathy, Acute Autoimmune"", ""PNS neuronitis"", ""Polyneuropathies, Acute Inflammatory"", ""Polyneuropathy, Acute Inflammatory"", ""Polyradiculoneuropathies, Acute Inflammatory"", ""Polyradiculoneuropathy, Acute Inflammatory"", ""Polyradiculoneuropathy, Acute Inflammatory Demyelinating"", ""Syndrome, Guillain-Barre"", ""Syndrome, Guillaine-Barre"", ""Syndrome, Landry-Guillain-Barre""" MeSH:D020275(Guillain-Barre Syndrome), SnoMedCT:128085000(Infectious neuronitis), SnoMedCT:129131007(Acute infective polyneuritis), SnoMedCT:193174005(Post-infectious polyneuritis), SnoMedCT:193176007(Acute infective polyneuritis NOS), SnoMedCT:40956001(Munchausen's syndrome), UMLS:C0018378(C0018378), MedDRA:10000813(Acute infective polyneuritis), NDFRT:N0000004093(Guillain-Barre Syndrome [Disease/Finding]), MONDO:MONDO:0016218(Guillain-Barre syndrome) +PA444332 Gynecomastia Gynaecomastia, Gynaecomazia, Gynecomazia, Hypertrophy of male breast MeSH:D006177(Gynecomastia), SnoMedCT:4754008(Gynecomastia), UMLS:C0018418(C0018418), MedDRA:10006244(Breast enlargement male), NDFRT:N0000001396(Gynecomastia [Disease/Finding]), MONDO:MONDO:0001571(gynecomastia disorder), HP:HP:0000771(Gynecomastia) +PA166048730 Haemophilus Infections NDFRT:N0000001398(Haemophilus Infections), MONDO:MONDO:0006926(haemophilus infectious disease) +PA444339 Hallucinations """Auditory Hallucination"", ""Auditory Hallucination, Verbal"", ""Auditory Hallucinations"", ""Auditory Hallucinations, Verbal"", ""Body Sensation Hallucination"", ""Body Sensation Hallucinations"", ""Dissociative Hallucination"", ""Dissociative Hallucinations"", ""Elementary Hallucination"", ""Elementary Hallucinations"", ""Gustatory Hallucination"", ""Gustatory Hallucinations"", ""Hallucination"", ""Hallucination of Body Sensation"", ""Hallucination, Auditory"", ""Hallucination, Dissociative"", ""Hallucination, Elementary"", ""Hallucination, Gustatory"", ""Hallucination, Hypnagogic"", ""Hallucination, Hypnapompic"", ""Hallucination, Kinesthetic"", ""Hallucination, Mood Congruent"", ""Hallucination, Mood Incongruent"", ""Hallucination, Olfactory"", ""Hallucination, Organic"", ""Hallucination, Reflex"", ""Hallucination, Sensory"", ""Hallucination, Somatic"", ""Hallucination, Tactile"", ""Hallucination, Verbal Auditory"", ""Hallucination, Visual"", ""Hallucinations, Auditory"", ""Hallucinations, Dissociative"", ""Hallucinations, Elementary"", ""Hallucinations, Formed, of People"", ""Hallucinations, Gustatory"", ""Hallucinations, Hypnagogic"", ""Hallucinations, Hypnapompic"", ""Hallucinations, Internal Body Sensation"", ""Hallucinations, Kinesthetic"", ""Hallucinations, Mood Congruent"", ""Hallucinations, Mood Incongruent"", ""Hallucinations, Olfactory"", ""Hallucinations, Organic"", ""Hallucinations, Reflex"", ""Hallucinations, Sensory"", ""Hallucinations, Somatic"", ""Hallucinations, Tactile"", ""Hallucinations, Verbal Auditory"", ""Hallucinations, Visual"", ""Hallucinations, Visual, Formed"", ""Hallucinations, Visual, Unformed"", ""Hypnagogic Hallucination"", ""Hypnagogic Hallucinations"", ""Hypnapompic Hallucination"", ""Hypnapompic Hallucinations"", ""Kinesthetic Hallucination"", ""Kinesthetic Hallucinations"", ""Mood Congruent Hallucination"", ""Mood Congruent Hallucinations"", ""Mood Incongruent Hallucination"", ""Mood Incongruent Hallucinations"", ""Olfactory Hallucination"", ""Olfactory Hallucinations"", ""Organic Hallucination"", ""Organic Hallucinations"", ""Reflex Hallucination"", ""Reflex Hallucinations"", ""Sensory Hallucination"", ""Sensory Hallucinations"", ""Somatic Hallucination"", ""Somatic Hallucinations"", ""Tactile Hallucination"", ""Tactile Hallucinations"", ""Verbal Auditory Hallucination"", ""Verbal Auditory Hallucinations"", ""Visual Hallucination"", ""Visual Hallucinations"", ""[D]Hallucinations""" MeSH:D006212(Hallucinations), SnoMedCT:206718003([D]Hallucinations), SnoMedCT:7011001(Hallucinations), UMLS:C0018524(C0018524), MedDRA:10019062(Hallucinating), NDFRT:N0000001403(Hallucinations [Disease/Finding]), HP:HP:0000738(Hallucinations) +PA444342 Hamartoma Syndrome """Bannayan-Riley-Ruvalcaba Syndrome"", ""Cowden Disease"", ""Cowden's Disease"", ""Cowdens Disease"", ""Disease, Cowden"", ""Disease, Cowden's"", ""Hamartoma Syndrome, Multiple"", ""Multiple Hamartoma Syndrome"", ""PTEN Hamartoma Tumor Syndrome"", ""Syndrome, Multiple Hamartoma""" """MeSH:D006223(Hamartoma Syndrome, Multiple)"", ""SnoMedCT:58037000(Cowden syndrome)"", ""UMLS:C0018553(C0018553)"", ""MedDRA:10051915(Cowden syndrome)"", ""NDFRT:N0000001406(Hamartoma Syndrome, Multiple [Disease/Finding])"", ""MONDO:MONDO:0016063(Cowden disease)"", ""MONDO:MONDO:0017623(PTEN hamartoma tumor syndrome)""" +PA166114377 Hand-foot syndrome Acral erythema, Hand and foot skin reaction, Hand and foot syndrome, Hand and foot syndrome secondary to chemotherapy, Hand-and-foot syndrome, Palmar-plantar erythema, Palmar-plantar erythrodysaesthesia syndrome, Palmar-plantar erythrodysesthesia syndrome MeSH:D060831(Hand-Foot Syndrome), MedDRA:10019126(Hand-and-foot syndrome), MedDRA:10033553(Palmar-plantar erythrodysaesthesia syndrome), NDFRT:N0000183414(Hand-Foot Syndrome), MONDO:MONDO:0700048(hand-foot syndrome) +PA444354 Headache """Bilateral Headache"", ""Bilateral Headaches"", ""Cephalalgia"", ""Cephalalgias"", ""Cephalgia"", ""Cephalgias"", ""Cephalodynia"", ""Cephalodynias"", ""Cough Headache"", ""Cough Headaches"", ""Cranial Pain"", ""Cranial Pains"", ""Generalized Headache"", ""Generalized Headaches"", ""HA - Headache"", ""Head Pain"", ""Head Pains"", ""Headache, Bilateral"", ""Headache, Cough"", ""Headache, Generalized"", ""Headache, NOS"", ""Headache, Ocular"", ""Headache, Orthostatic"", ""Headache, Periorbital"", ""Headache, Post-Dural Puncture"", ""Headache, Post-Lumbar Puncture"", ""Headache, Postdural Puncture"", ""Headache, Retro-Ocular"", ""Headache, Sharp"", ""Headache, Stabbing"", ""Headache, Throbbing"", ""Headache, Thunderclap"", ""Headache, Unilateral"", ""Headache, Vertex"", ""Headaches"", ""Headaches, Bilateral"", ""Headaches, Cough"", ""Headaches, Generalized"", ""Headaches, Ocular"", ""Headaches, Orthostatic"", ""Headaches, Periorbital"", ""Headaches, Post-Dural Puncture"", ""Headaches, Post-Lumbar Puncture"", ""Headaches, Postdural Puncture"", ""Headaches, Retro-Ocular"", ""Headaches, Sharp"", ""Headaches, Stabbing"", ""Headaches, Throbbing"", ""Headaches, Thunderclap"", ""Headaches, Unilateral"", ""Headaches, Vertex"", ""Ocular Headache"", ""Ocular Headaches"", ""Orthostatic Headache"", ""Orthostatic Headaches"", ""Pain in head"", ""Pain, Cranial"", ""Pain, Head"", ""Pains, Cranial"", ""Pains, Head"", ""Periorbital Headache"", ""Periorbital Headaches"", ""Post Dural Puncture Headache"", ""Post Lumbar Puncture Headache"", ""Post-Dural Puncture Headache"", ""Post-Dural Puncture Headaches"", ""Post-Lumbar Puncture Headache"", ""Post-Lumbar Puncture Headaches"", ""Postdural Puncture Headache"", ""Postdural Puncture Headaches"", ""Puncture Headache, Postdural"", ""Puncture Headaches, Postdural"", ""Retro Ocular Headache"", ""Retro-Ocular Headache"", ""Retro-Ocular Headaches"", ""Sharp Headache"", ""Sharp Headaches"", ""Stabbing Headache"", ""Stabbing Headaches"", ""Throbbing Headache"", ""Throbbing Headaches"", ""Thunderclap Headache"", ""Thunderclap Headaches"", ""Unilateral Headache"", ""Unilateral Headaches"", ""Vertex Headache"", ""Vertex Headaches"", ""[D]Headache""" MeSH:D006261(Headache), SnoMedCT:206946005([D]Headache), SnoMedCT:25064002(Headache), UMLS:C0018681(C0018681), MedDRA:10008011(Cephalalgia), NDFRT:N0000001418(Headache [Disease/Finding]), HP:HP:0002315(Headache) +PA447076 Headache Disorders """Analgesic Overuse Headache"", ""Analgesic Overuse Headaches"", ""Analgesic Rebound Headache"", ""Analgesic Rebound Headaches"", ""Benign Exertional Headache"", ""Benign Exertional Headaches"", ""Cephalgia Syndrome"", ""Cephalgia Syndromes"", ""Cervicogenic Headache"", ""Cervicogenic Headaches"", ""Chronic Daily Headache"", ""Chronic Daily Headaches"", ""Chronic Headache"", ""Chronic Headaches"", ""Daily Headache, Chronic"", ""Daily Headaches, Chronic"", ""Exertional Headache, Benign"", ""Exertional Headaches, Benign"", ""Headache Disorder"", ""Headache Syndrome"", ""Headache Syndrome, Hypnic"", ""Headache Syndromes"", ""Headache Syndromes, Hypnic"", ""Headache, Analgesic Overuse"", ""Headache, Analgesic Rebound"", ""Headache, Benign Exertional"", ""Headache, Cervicogenic"", ""Headache, Chronic"", ""Headache, Chronic Daily"", ""Headache, Intractable"", ""Headache, Post-Traumatic"", ""Headaches, Analgesic Overuse"", ""Headaches, Analgesic Rebound"", ""Headaches, Benign Exertional"", ""Headaches, Cervicogenic"", ""Headaches, Chronic"", ""Headaches, Chronic Daily"", ""Headaches, Intractable"", ""Headaches, Post-Traumatic"", ""Hypnic Headache Syndrome"", ""Hypnic Headache Syndromes"", ""Intractable Headache"", ""Intractable Headaches"", ""Post Traumatic Headache"", ""Post-Traumatic Headache"", ""Post-Traumatic Headaches"", ""Syndrome, Headache""" MeSH:D020773(Headache Disorders), SnoMedCT:230461009(Headache disorder), UMLS:C0393735(C0393735), NDFRT:N0000004182(Headache Disorders [Disease/Finding]), MONDO:MONDO:0021146(headache disorder) +PA444352 Head and Neck Neoplasms """Cancer of Head"", ""Cancer of Head and Neck"", ""Cancer of Neck"", ""Cancer of the Head"", ""Cancer of the Head and Neck"", ""Cancer of the Neck"", ""Head Cancer"", ""Head Neoplasms"", ""Head and Neck Cancer"", ""Head, Neck Neoplasms"", ""Neck Cancer"", ""Neck Neoplasms"", ""Neoplasm, UADT"", ""Neoplasms, Head"", ""Neoplasms, Head and Neck"", ""Neoplasms, Neck"", ""Neoplasms, UADT"", ""Neoplasms, Upper Aerodigestive Tract"", ""UADT Neoplasm"", ""UADT Neoplasms"", ""Upper Aerodigestive Tract Neoplasms""" MeSH:D006258(Head and Neck Neoplasms), SnoMedCT:255055008(Neoplasm of head AND/OR neck), UMLS:C0018671(C0018671), NDFRT:N0000001416(Head and Neck Neoplasms [Disease/Finding]), MONDO:MONDO:0005586(head and neck neoplasm) +PA444355 Hearing Disorders """Auditory alteration"", ""Disorder of hearing"", ""Distorted Hearing"", ""Dysacusis"", ""Hearing Disorder"", ""Hearing Loss, Mixed Conductive Sensorineural"", ""Hearing Loss, Mixed Conductive-Sensorineural"", ""Hearing disorder"", ""Hearing, Distorted"", ""Paracousis"", ""Paracusis""" MeSH:D006311(Hearing Disorders), SnoMedCT:128540005(Hearing disorder), SnoMedCT:300228004(Hearing problem), SnoMedCT:362966006(Disorder of auditory system), SnoMedCT:362989003(Auditory dysfunction), UMLS:C0260662(C0260662), MedDRA:10003778(Auditory disorder), NDFRT:N0000001419(Hearing Disorders [Disease/Finding]), MONDO:MONDO:0021945(hearing disorder) +PA145069467 Hearing Loss Hearing Impairment MeSH:D034381(Hearing Loss), MONDO:MONDO:0005365(hearing loss disorder) +PA444363 Hearing Loss, Sensorineural """Hearing Losses, Sensorineural"", ""Loss, Sensorineural Hearing"", ""Losses, Sensorineural Hearing"", ""Perceptive hearing loss NOS"", ""Sensorineural Hearing Loss"", ""Sensorineural Hearing Losses"", ""Sensory-neural hearing loss""" """MeSH:D006319(Hearing Loss, Sensorineural)"", ""SnoMedCT:194427003(Perceptive hearing loss NOS)"", ""SnoMedCT:60700002(Sensorineural hearing loss)"", ""UMLS:C0018784(C0018784)"", ""MedDRA:10011891(Deafness neurosensory)"", ""NDFRT:N0000001427(Hearing Loss, Sensorineural [Disease/Finding])"", ""MONDO:MONDO:0010576(X-linked mixed hearing loss with perilymphatic gusher)"", ""MONDO:MONDO:0020678(sensorineural hearing loss disorder)"", ""HP:HP:0000407(Sensorineural hearing impairment)""" +PA444366 Heart Block """Atrioventricular Block"", ""Atrioventricular Blocks"", ""Auriculo Ventricular Dissociation"", ""Auriculo-Ventricular Dissociation"", ""Auriculo-Ventricular Dissociations"", ""Block, Atrioventricular"", ""Block, Heart"", ""Blocks, Atrioventricular"", ""Blocks, Heart"", ""Dissociation, Auriculo-Ventricular"", ""Dissociations, Auriculo-Ventricular"", ""HB - Heart block"", ""Heart Blocks"", ""Heart block"", ""Heart block NOS""" HP:HP:0012722(Heart block) +PA444380 Heartburn Burning reflux, Heartburn symptom, Pyroses, Pyrosis, Waterbrash, [D]Heartburn MeSH:D006356(Heartburn), SnoMedCT:16331000(Heartburn), SnoMedCT:207117006([D]Heartburn), SnoMedCT:207118001([D]Pyrosis), UMLS:C0018834(C0018834), MedDRA:10019326(Heartburn), NDFRT:N0000001444(Heartburn [Disease/Finding]), HP:HP:0002020(Gastroesophageal reflux) +PA444368 Heart Diseases """Cardiac Disease"", ""Cardiac Diseases"", ""Cardiopathy, NOS"", ""Disease, Cardiac"", ""Disease, Heart"", ""Diseases, Cardiac"", ""Diseases, Heart"", ""Heart Disease"", ""Heart disease NOS"", ""Heart disease, NOS""" MeSH:D006331(Heart Diseases), SnoMedCT:195152001(Heart disease NOS), SnoMedCT:56265001(Heart disease), UMLS:C0018799(C0018799), MedDRA:10061024(Cardiac disorder), NDFRT:N0000001432(Heart Diseases [Disease/Finding]), MONDO:MONDO:0005267(heart disorder) +PA444370 Heart Failure """Cardiac failure"", ""Cardiac failure, NOS"", ""Congestive Heart Failure"", ""Decompensation, Heart"", ""Diastolic heart failure"", ""Failure, Congestive Heart"", ""HF - Heart failure"", ""Heart Decompensation"", ""Heart Failure"", ""Heart Failure, Congestive"", ""Heart Failure, Diastolic"", ""Heart failure, NOS"", ""Myocardial failure"", ""Myocardial failure, NOS"", ""Weak heart""" MeSH:D006333(Heart Failure), SnoMedCT:266248006(Heart failure NOS), SnoMedCT:84114007(Heart failure), UMLS:C0018801(C0018801), MedDRA:10007554(Cardiac failure), NDFRT:N0000001434(Heart Failure [Disease/Finding]), MONDO:MONDO:0005252(heart failure) +PA166159282 heart rate """Cardiac Chronotropism"", ""Cardiac Chronotropy"", ""Chronotropism, Cardiac"", ""Chronotropy, Cardiac"", ""Control, Heart Rate"", ""Heart Rate Control"", ""Heart Rates"", ""Pulse Rate"", ""Pulse Rates"", ""Rate Control, Heart"", ""Rate, Heart"", ""Rate, Pulse"", ""Rates, Heart"", ""Rates, Pulse""" MeSH:D006339(Heart Rate) +PA166114458 Heart transplantation MeSH:D016027(Heart Transplantation) +PA444379 Heart Valve Diseases """Disease, Heart Valve"", ""Disease, Valvular Heart"", ""Diseases, Heart Valve"", ""Diseases, Valvular Heart"", ""Disorder of heart valve"", ""Heart Disease, Valvular"", ""Heart Diseases, Valvular"", ""Heart Valve Disease"", ""Heart valve disease"", ""Heart valve disorder"", ""Heart valve disorder, NOS"", ""Valve Disease, Heart"", ""Valve Diseases, Heart"", ""Valvular Heart Disease"", ""Valvular Heart Diseases"", ""Valvular heart disease"", ""Valvular heart disease, NOS""" MeSH:D006349(Heart Valve Diseases), SnoMedCT:368009(Heart valve disorder), UMLS:C0018824(C0018824), MedDRA:10061406(Cardiac valve disease), NDFRT:N0000001443(Heart Valve Diseases [Disease/Finding]), MONDO:MONDO:0002869(heart valve disorder) +PA166123431 Heart valve replacement SnoMedCT:34068001(Heart valve replacement), MedDRA:10061995(Heart valve replacement), HP:HP:6000983(History of aortic valve replacement) +PA166048740 Helicobacter Infections H.pylori infection, Helicobacter pylori infection NDFRT:N0000003419(Helicobacter Infections), MONDO:MONDO:0006781(Helicobacter pylori infectious disease) +PA446478 HELLP Syndrome """HELLP - Syndrome of hemolysis, elevated liver enzymes and low platelet"", ""Syndrome, HELLP""" MeSH:D017359(HELLP Syndrome), SnoMedCT:95605009(Hemolysis-elevated liver enzymes-low platelet count syndrome), UMLS:C0162739(C0162739), MedDRA:10049058(HELLP syndrome), NDFRT:N0000003569(HELLP Syndrome [Disease/Finding]), MONDO:MONDO:0008585(HELLP syndrome), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA444386 Hemangioendothelioma Haemangioendothelioma, Hemangioendotheliomas, Kaposiform hemangioendothelioma, [M]Hemangioendothelioma MeSH:D006390(Hemangioendothelioma), SnoMedCT:403980002(Hemangioendothelioma), SnoMedCT:66229009(Hemangioendothelioma), UMLS:C0018915(C0018915), NDFRT:N0000001450(Hemangioendothelioma [Disease/Finding]), MONDO:MONDO:0021121(hemangioendothelioma) +PA444387 Hemangioma """Angioma"", ""Angiomas"", ""Chorioangioma"", ""Chorioangiomas"", ""Haemangioma"", ""Haemangioma - morphology"", ""Haemangioma NOS"", ""Haemangioma, NOS"", ""Haemangioma, site unspecified"", ""Hemangioma of unspecified site"", ""Hemangioma, Histiocytoid"", ""Hemangioma, Intramuscular"", ""Hemangioma, NOS"", ""Hemangioma, no ICD-O subtype"", ""Hemangioma, site unspecified"", ""Hemangiomas"", ""Hemangiomas, Histiocytoid"", ""Hemangiomas, Intramuscular"", ""Histiocytoid Hemangioma"", ""Histiocytoid Hemangiomas"", ""Intramuscular Hemangioma"", ""Intramuscular Hemangiomas""" """MeSH:D006391(Hemangioma)"", ""SnoMedCT:189194008(Hemangioma of unspecified site)"", ""SnoMedCT:189199003(Hemangioma NOS)"", ""SnoMedCT:2099007(Hemangioma, no ICD-O subtype)"", ""SnoMedCT:253053003(Benign hemangioma)"", ""SnoMedCT:400210000(Haemangioma)"", ""UMLS:C0018916(C0018916)"", ""MedDRA:10002459(Angioma)"", ""NDFRT:N0000001451(Hemangioma [Disease/Finding])"", ""MONDO:MONDO:0006500(hemangioma)"", ""HP:HP:0001028(Hemangioma)""" +PA444395 Hematologic Disorder """Blood Disease"", ""Blood Diseases"", ""Blood diseases NOS"", ""Disease of blood AND/OR blood forming organ"", ""Disease of haematopoietic system, NOS"", ""Disease of hematopoietic system, NOS"", ""Disease, Blood"", ""Disease, Hematologic"", ""Disease, Hematological"", ""Diseases, Blood"", ""Diseases, Hematologic"", ""Diseases, Hematological"", ""Disorder of hematopoietic system, NOS"", ""Haematologic disease"", ""Haematopoietic system syndrome, NOS"", ""Hematologic Dis"", ""Hematologic Disease"", ""Hematological Disease"", ""Hematological Diseases"", ""Hematopoietic system syndrome, NOS""" MeSH:D006402(Hematologic Diseases), SnoMedCT:191124002(Disease of blood AND/OR blood-forming organ), SnoMedCT:191402006(Blood dyscrasia NOS), SnoMedCT:267573000(Blood diseases NOS), SnoMedCT:34093004(Disorder of hematopoietic system), UMLS:C0018939(C0018939), MedDRA:10061590(Blood disorder), NDFRT:N0000001459(Hematologic Diseases [Disease/Finding]), MONDO:MONDO:0005570(hematologic disorder) +PA446827 Hematologic Neoplasms """Haematologic neoplasm"", ""Hematologic Malignancies"", ""Hematologic Malignancy"", ""Hematologic Neoplasm"", ""Hematological Malignancies"", ""Hematological Malignancy"", ""Hematological Neoplasm"", ""Hematological Neoplasms"", ""Hematopoietic Malignancies"", ""Hematopoietic Malignancy"", ""Hematopoietic Neoplasm"", ""Hematopoietic Neoplasms"", ""Malignancies, Hematologic"", ""Malignancies, Hematological"", ""Malignancies, Hematopoietic"", ""Malignancy, Hematologic"", ""Malignancy, Hematological"", ""Malignancy, Hematopoietic"", ""Neoplasm, Hematologic"", ""Neoplasm, Hematological"", ""Neoplasm, Hematopoietic"", ""Neoplasms, Hematologic"", ""Neoplasms, Hematological"", ""Neoplasms, Hematopoietic""" MeSH:D019337(Hematologic Neoplasms), SnoMedCT:129154003(Haematologic neoplasm), UMLS:C0376545(C0376545), MedDRA:10066476(Haematological malignancy), NDFRT:N0000003918(Hematologic Neoplasms [Disease/Finding]), MONDO:MONDO:0002334(hematopoietic and lymphoid system neoplasm) +PA444396 Hematoma """Haematoma"", ""Haematoma, NOS"", ""Hematoma, NOS"", ""Hematomas""" MeSH:D006406(Hematoma), SnoMedCT:35566002(Hematoma), SnoMedCT:385494008(Haematoma), UMLS:C0018944(C0018944), MedDRA:10018852(Haematoma), NDFRT:N0000001460(Hematoma [Disease/Finding]) +PA444398 Hematoma, Subdural """Hematoma, Intracranial Subdural"", ""Hematoma, Spinal Subdural"", ""Hematoma, Traumatic Subdural"", ""Hematomas, Intracranial Subdural"", ""Hematomas, Spinal Subdural"", ""Hematomas, Subdural"", ""Hematomas, Traumatic Subdural"", ""Hemorrhage, Subdural"", ""Hemorrhages, Subdural"", ""Intracranial Subdural Hematoma"", ""Intracranial Subdural Hematoma, Traumatic"", ""Intracranial Subdural Hematomas"", ""Spinal Subdural Hematoma"", ""Spinal Subdural Hematoma, Traumatic"", ""Spinal Subdural Hematomas"", ""Subdural Hematoma"", ""Subdural Hematoma, Intracranial"", ""Subdural Hematoma, Spinal"", ""Subdural Hematoma, Spinal, Traumatic"", ""Subdural Hematoma, Traumatic"", ""Subdural Hematoma, Traumatic Intracranial"", ""Subdural Hematomas"", ""Subdural Hematomas, Intracranial"", ""Subdural Hematomas, Spinal"", ""Subdural Hematomas, Traumatic"", ""Subdural Hemorrhage"", ""Subdural Hemorrhages"", ""Subdural haematoma"", ""Subdural haemorrhage NOS"", ""Subdural hematoma, NOS"", ""Subdural hemorrhage"", ""Subdural hemorrhage NOS"", ""Subdural hemorrhage, NOS"", ""Traumatic Intracranial Subdural Hematoma"", ""Traumatic Spinal Subdural Hematoma"", ""Traumatic Subdural Hematoma"", ""Traumatic Subdural Hematomas""" """MeSH:D006408(Hematoma, Subdural)"", ""SnoMedCT:35486000(Subdural hemorrhage)"", ""SnoMedCT:415649003(Subdural hemorrhage NOS)"", ""SnoMedCT:95453001(Subdural haematoma)"", ""UMLS:C0018946(C0018946)"", ""MedDRA:10055893(Haematoma subdural)"", ""NDFRT:N0000001462(Hematoma, Subdural [Disease/Finding])"", ""HP:HP:0100309(Subdural hemorrhage)""" +PA166123007 Hematopoietic stem cell transplantation """Stem Cell Transplantation, Hematopoietic"", ""Transplantation, Hematopoietic Stem Cell"", ""hemopoietic stem cell transplant""" MeSH:D018380(Hematopoietic Stem Cell Transplantation), MedDRA:10058415(Peripheral hemopoietic stem cell transplant) +PA444400 Hematuria Blood in urine, Blood in urine - hematuria, Haematuria, Haematuria NOS, Hematuria NOS, Hematurias MeSH:D006417(Hematuria), SnoMedCT:307414005(Hematuria NOS), SnoMedCT:34436003(Blood in urine), SnoMedCT:53298000(Hematuria syndrome), UMLS:C0018965(C0018965), MedDRA:10018867(Haematuria), NDFRT:N0000001464(Hematuria [Disease/Finding]), HP:HP:0000790(Hematuria) +PA444401 Hemianopsia """Altidudinal Hemianopia"", ""Altidudinal Hemianopias"", ""Altitudinal Hemianopsia"", ""Altitudinal Hemianopsias"", ""Binasal Hemianopia"", ""Binasal Hemianopias"", ""Binasal Hemianopsia"", ""Binasal Hemianopsias"", ""Bitemporal Hemianopia"", ""Bitemporal Hemianopias"", ""Bitemporal Hemianopsia"", ""Bitemporal Hemianopsias"", ""Hemianopia"", ""Hemianopia, Altidudinal"", ""Hemianopia, Binasal"", ""Hemianopia, Bitemporal"", ""Hemianopia, Homonymous"", ""Hemianopia, NOS"", ""Hemianopias"", ""Hemianopias, Altidudinal"", ""Hemianopias, Binasal"", ""Hemianopias, Bitemporal"", ""Hemianopias, Homonymous"", ""Hemianopsia, Altitudinal"", ""Hemianopsia, Binasal"", ""Hemianopsia, Bitemporal"", ""Hemianopsia, Homonymous"", ""Hemianopsia, NOS"", ""Hemianopsias"", ""Hemianopsias, Altitudinal"", ""Hemianopsias, Binasal"", ""Hemianopsias, Bitemporal"", ""Hemianopsias, Homonymous"", ""Homonymous Hemianopia"", ""Homonymous Hemianopias"", ""Homonymous Hemianopsia"", ""Homonymous Hemianopsias"", ""Quadrantanopia"", ""Quadrantanopias"", ""Quadrantanopsia"", ""Quadrantanopsias""" MeSH:D006423(Hemianopsia), SnoMedCT:77674003(Hemianopia), UMLS:C0018979(C0018979), MedDRA:10019452(Hemianopia), NDFRT:N0000001465(Hemianopsia [Disease/Finding]), HP:HP:0012377(Hemianopia) +PA444405 Hemochromatosis """Bronze Diabetes"", ""Bronze diabetes"", ""Bronzed diabetes"", ""Diabetes, Bronze"", ""Hemochromatoses"", ""Iron storage disease""" MeSH:D006432(Hemochromatosis), SnoMedCT:399144008(Bronze diabetes), SnoMedCT:399187006(Hemochromatosis), UMLS:C0018995(C0018995), MedDRA:10006489(Bronzed diabetes), NDFRT:N0000001469(Hemochromatosis [Disease/Finding]), MONDO:MONDO:0006507(hereditary hemochromatosis) +PA444411 Hemolysis Haemolysis MeSH:D006461(Hemolysis), SnoMedCT:260882000(Hemolysis), SnoMedCT:404227002(Hemolysis), SnoMedCT:73320003(Haemolysis), UMLS:C0019054(C0019054), MedDRA:10018910(Haemolysis), NDFRT:N0000001475(Hemolysis [Disease/Finding]) +PA443343 Hemolytic Anemia """Acquired Hemolytic Anemia"", ""Acquired Hemolytic Anemias"", ""Anemia, Acquired Hemolytic"", ""Anemia, Hemolytic, Acquired"", ""Anemia, Microangiopathic"", ""Anemias, Acquired Hemolytic"", ""Anemias, Hemolytic"", ""Anemias, Microangiopathic"", ""Haemolytic anaemias NOS"", ""Hemolytic Anemia"", ""Hemolytic Anemia, Acquired"", ""Hemolytic Anemias"", ""Hemolytic Anemias, Acquired"", ""Hemolytic Jaundice"", ""Hemolytic Jaundices"", ""Hemolytic anemias NOS"", ""Jaundice, Hemolytic"", ""Jaundices, Hemolytic"", ""Microangiopathic Anemia"", ""Microangiopathic Anemias""" """MeSH:D000743(Anemia, Hemolytic)"", ""SnoMedCT:191231008(Hemolytic anemias NOS)"", ""SnoMedCT:61261009(Hemolytic anemia)"", ""UMLS:C0002878(C0002878)"", ""MedDRA:10002045(Anaemia haemolytic)"", ""NDFRT:N0000000387(Anemia, Hemolytic [Disease/Finding])"", ""MONDO:MONDO:0003664(hemolytic anemia)"", ""HP:HP:0001878(Hemolytic anemia)""" +PA444414 Hemophilia A """AHG deficiency disease"", ""Classical hemophilia"", ""Congenital factor VIII deficiency"", ""Congenital factor VIII deficiency disease"", ""Deficiencies, Factor VIII"", ""Deficiency, Factor VIII"", ""Factor VIII Deficiencies"", ""Factor VIII Deficiency"", ""Factor VIII deficiency"", ""Haemophilia A"", ""Haemophilia A, NOS"", ""Hemophilia"", ""Hemophilia A, NOS"", ""Sex-linked factor VIII deficiency""" MONDO:MONDO:0010602(hemophilia A) +PA443726 Hemophilia B """Christmas Disease"", ""Christmas disease"", ""Congenital factor IX deficiency"", ""Deficiencies, Factor IX"", ""Deficiency, Factor IX"", ""Disease, Christmas"", ""Factor IX Deficiencies"", ""Factor IX Deficiency"", ""Haemophilia B"", ""Haemophilia B, NOS"", ""Hemophilia B, NOS"", ""Hereditary factor IX deficiency disease"", ""PTC deficiency disease"", ""Sex-linked factor IX deficiency disease""" MeSH:D002836(Hemophilia B), SnoMedCT:41788008(Hereditary factor IX deficiency disease), UMLS:C0008533(C0008533), MedDRA:10008793(Christmas disease (Factor IX)), NDFRT:N0000000781(Hemophilia B [Disease/Finding]), MONDO:MONDO:0010604(hemophilia B) +PA444417 Hemorrhage Bleeding, Blood loss, Haemorrhage, Haemorrhage NOS, Hemorrhage NOS, Hemorrhages MeSH:D006470(Hemorrhage), SnoMedCT:131148009(Bleeding), SnoMedCT:195511004(Hemorrhage NOS), SnoMedCT:50960005(Haemorrhage), UMLS:C0019080(C0019080), MedDRA:10005103(Bleeding), NDFRT:N0000001481(Hemorrhage [Disease/Finding]) +PA447264 Heparin-induced thrombocytopenia Low platelet count following administration of heparin SnoMedCT:73397007(Heparin-induced thrombocytopenia), UMLS:C0272285(C0272285), MedDRA:10062506(Heparin-induced thrombocytopenia), MONDO:MONDO:0018048(heparin-induced thrombocytopenia), HP:HP:0011874(Heparin-induced thrombocytopenia) +PA444432 Hepatic Encephalopathy """Coma, Hepatic"", ""Comas, Hepatic"", ""Encephalopathies, Hepatic"", ""Encephalopathies, Hepatocerebral"", ""Encephalopathies, Portal-Systemic"", ""Encephalopathies, Portosystemic"", ""Encephalopathy, Hepatic"", ""Encephalopathy, Hepatocerebral"", ""Encephalopathy, Portal Systemic"", ""Encephalopathy, Portal-Systemic"", ""Encephalopathy, Portosystemic"", ""Fulminant Hepatic Failure with Cerebral Edema"", ""Gaustad's syndrome"", ""HE - Hepatic encephalopathy"", ""Hepatic Coma"", ""Hepatic Comas"", ""Hepatic Encephalopathies"", ""Hepatic Stupor"", ""Hepatic Stupors"", ""Hepatocerebral Encephalopathies"", ""Hepatocerebral Encephalopathy"", ""Hepatocerebral encephalopathy"", ""Portal Systemic Encephalopathy"", ""Portal-Systemic Encephalopathies"", ""Portal-Systemic Encephalopathy"", ""Portosystemic Encephalopathies"", ""Portosystemic Encephalopathy"", ""Stupor, Hepatic"", ""Stupors, Hepatic"", ""Transient hepatargy syndrome""" MONDO:MONDO:0001711(hepatic encephalopathy), HP:HP:0002480(Hepatic encephalopathy) +PA166122489 hepatic steatosis MedDRA:10019708(Hepatic steatosis), HP:HP:0001397(Hepatic steatosis) +PA444434 Hepatic Veno-Occlusive Disease """Disease, Hepatic Veno-Occlusive"", ""Diseases, Hepatic Veno-Occlusive"", ""Hepatic Veno Occlusive Disease"", ""Hepatic Veno-Occlusive Disease"", ""Hepatic Veno-Occlusive Diseases"", ""Veno Occlusive Disease, Hepatic"", ""Veno-Occlusive Disease, Hepatic"", ""Veno-Occlusive Diseases, Hepatic"", ""Veno-occlusive disease of the liver"", ""hepatic venocclusive disease"", ""hepatic venoocclusive disease (VOD)""" MeSH:D006504(Hepatic Veno-Occlusive Disease), SnoMedCT:65617004(Veno-occlusive disease of the liver), UMLS:C0019156(C0019156), MedDRA:10063675(Sinusoidal obstruction syndrome), NDFRT:N0000001498(Hepatic Veno-Occlusive Disease [Disease/Finding]), MONDO:MONDO:0019514(hepatic veno-occlusive disease) +PA444435 Hepatitis Hepatitides, Hepatitis unspecified, Hepatitis unspecified NOS, Inflammatory disease of liver, Inflammatory disorder of liver, Inflammatory liver disease MeSH:D006505(Hepatitis), SnoMedCT:128241005(Inflammatory disease of liver), SnoMedCT:197351001(Hepatitis unspecified), SnoMedCT:197353003(Hepatitis unspecified NOS), UMLS:C0019158(C0019158), MedDRA:10019717(Hepatitis), NDFRT:N0000001499(Hepatitis [Disease/Finding]), MONDO:MONDO:0002251(hepatitis), HP:HP:0012115(Hepatitis) +PA444436 Hepatitis A virus infection """Hepatitides, Infectious"", ""Hepatitis A"", ""Hepatitis, Infectious"", ""IH - Infectious hepatitis"", ""Infectious Hepatitides"", ""Infectious Hepatitis"", ""Infectious hepatitis"", ""Viral hepatitis, type A""" """MeSH:D006506(Hepatitis A)"", ""SnoMedCT:40468003(Viral hepatitis, type A)"", ""UMLS:C0019159(C0019159)"", ""MedDRA:10019618(Hep A)"", ""NDFRT:N0000001500(Hepatitis A [Disease/Finding])"", ""MONDO:MONDO:0005790(hepatitis A virus infection)""" +PA446862 Hepatitis B, Chronic Chronic Hepatitis B """MeSH:D019694(Hepatitis B, Chronic)"", ""SnoMedCT:61977001(Chronic type B viral hepatitis)"", ""UMLS:C0524909(C0524909)"", ""MedDRA:10008910(Chronic hepatitis B)"", ""NDFRT:N0000003953(Hepatitis B, Chronic [Disease/Finding])"", ""MONDO:MONDO:0005366(chronic hepatitis B virus infection)""" +PA444437 Hepatitis B virus infection Hepatitis B, SH - Serum hepatitis, Type B viral hepatitis MeSH:D006509(Hepatitis B), SnoMedCT:66071002(Type B viral hepatitis), UMLS:C0019163(C0019163), MedDRA:10019619(Hep B), NDFRT:N0000001501(Hepatitis B [Disease/Finding]), MONDO:MONDO:0005344(hepatitis B virus infection) +PA444445 Hepatitis C virus infection """Hepatitis C"", ""Hepatitis non-A non-B"", ""Hepatitis, Viral, Non-A, Non-B, Parenterally-Transmitted"", ""PT-NANBH"", ""Parenterally Transmitted Non A, Non B Hepatitis"", ""Parenterally-Transmitted Non-A, Non-B Hepatitis"", ""Viral hepatitis, non-A, non-B""" MeSH:D006526(Hepatitis C), SnoMedCT:186634008(Hepatitis non-A non-B), SnoMedCT:50711007(Viral hepatitis C), UMLS:C0019196(C0019196), MedDRA:10084252(Congenital hepatitis C infection), NDFRT:N0000001509(Hepatitis C [Disease/Finding]), MONDO:MONDO:0005231(hepatitis C virus infection) +PA446864 Hepatitis D virus infection """Chronic Delta Hepatitides"", ""Chronic Delta Hepatitis"", ""Chronic Hepatitis D"", ""Delta Hepatitides, Chronic"", ""Delta Hepatitis, Chronic"", ""Hepatitides, Chronic Delta"", ""Hepatitis, Chronic Delta""" """MeSH:D019701(Hepatitis D, Chronic)"", ""UMLS:C0524911(Hepatitis D, Chronic [Disease/Finding])"", ""NDFRT:N0000003955(Hepatitis D, Chronic [Disease/Finding])"", ""MONDO:MONDO:0005789(hepatitis D virus infection)""" +PA444442 Hepatitis, Toxic MeSH:D056486(Chemical and Drug Induced Liver Injury), SnoMedCT:197352008(Toxic hepatitis), UMLS:C0019193(C0019193), MedDRA:10019795(Hepatitis toxic), MONDO:MONDO:0005359(drug-induced liver injury) +PA444447 Hepatocellular Carcinoma """Carcinomas, Hepatocellular"", ""HCC - Hepatocellular carcinoma"", ""Hepatocarcinoma"", ""Hepatocellular Carcinoma"", ""Hepatocellular Carcinomas"", ""Hepatocellular carcinoma"", ""Hepatocellular carcinoma (clinical)"", ""Hepatocellular carcinoma, NOS"", ""Hepatoma"", ""Hepatoma, NOS"", ""Hepatoma, malignant"", ""Hepatomas"", ""Liver carcinoma"", ""Liver cell carcinoma"", ""Liver cell carcinoma (clinical)"", ""Malignant hepatoma"", ""[M]Hepatocellular carcinoma NOS""" """MeSH:D006528(Carcinoma, Hepatocellular)"", ""SnoMedCT:109841003(Liver cell carcinoma (clinical))"", ""SnoMedCT:187769009(Primary carcinoma of liver)"", ""SnoMedCT:25370001(Hepatocellular carcinoma)"", ""UMLS:C0019204(C0019204)"", ""MedDRA:10049010(Carcinoma hepatocellular)"", ""NDFRT:N0000001511(Carcinoma, Hepatocellular [Disease/Finding])"", ""MONDO:MONDO:0007256(hepatocellular carcinoma)"", ""HP:HP:0001402(Hepatocellular carcinoma)""" +PA152132901 Hereditary Breast/Ovarian Cancer Syndrome MeSH:D061325(Hereditary Breast and Ovarian Cancer Syndrome), MONDO:MONDO:0003582(hereditary breast ovarian cancer syndrome) +PA144997875 Hereditary Hypophosphatemic Rickets with Hypercalciuria """MeSH:C562793(Hypophosphatemic Rickets with Hypercalciuria, Hereditary)"", ""SnoMedCT:726081005(Hereditary hypophosphatemic rickets with hypercalciuria)"", ""MONDO:MONDO:0009431(hereditary hypophosphatemic rickets with hypercalciuria)""" +PA447148 Hermanski-Pudlak Syndrome Albinism with hemorrhagic diathesis, Alpha storage pool disease, Hermanski Pudlak Syndrome MeSH:D022861(Hermanski-Pudlak Syndrome), SnoMedCT:9311003(Hermansky-Pudlak syndrome), UMLS:C0079504(C0079504), NDFRT:N0000004251(Hermanski-Pudlak Syndrome [Disease/Finding]), MONDO:MONDO:0019312(Hermansky-Pudlak syndrome) +PA444451 Hernia Enterocele, Hernias, Herniated structure, Herniated tissue, Herniation MeSH:D006547(Hernia), SnoMedCT:414403008(Hernia), UMLS:C0019270(C0019270), MedDRA:10019909(Hernia), NDFRT:N0000001516(Hernia [Disease/Finding]), MONDO:MONDO:0001589(obsolete vaginal enterocele), MONDO:MONDO:0007721(hiatus hernia), MONDO:MONDO:0024583(obsolete hernia), HP:HP:0100790(Hernia) +PA444460 Heroin Dependence """Abuse, Heroin"", ""Addiction, Heroin"", ""Dependence, Heroin"", ""Heroin Abuse"", ""Heroin Addiction"", ""Heroin User"", ""Heroin Users"", ""Heroin addiction"", ""Heroin dependence"", ""User, Heroin"", ""Users, Heroin""" MeSH:D006556(Heroin Dependence), SnoMedCT:231477003(Heroin dependence), UMLS:C0019337(C0019337), MedDRA:10019935(Heroin addiction), NDFRT:N0000001525(Heroin Dependence [Disease/Finding]), MONDO:MONDO:0005367(heroin dependence) +PA166048898 Herpes Labialis MONDO:MONDO:0043653(herpes labialis) +PA444465 Herpes Simplex """Herpes simplex"", ""Herpes simplex, NOS""" MONDO:MONDO:0004609(herpes simplex infectious disease) +PA447087 Herpes Simplex Encephalitis """Acute Necrotizing Encephalitis, Herpetic"", ""Encephalitides, Herpes Simplex"", ""Encephalitides, Herpetic"", ""Encephalitis due to Herpesviridae"", ""Encephalitis, Herpes"", ""Encephalitis, Herpetic"", ""Herpes Encephalitis"", ""Herpes Simplex Encephalitides"", ""Herpes Simplex Encephalitis"", ""Herpes Simplex Meningoencephalitides"", ""Herpes Simplex Meningoencephalitis"", ""Herpetic Acute Necrotizing Encephalitis"", ""Herpetic Encephalitides"", ""Herpetic Encephalitis"", ""Herpetic Meningoencephalitides"", ""Herpetic Meningoencephalitis"", ""Meningoencephalitides, Herpes Simplex"", ""Meningoencephalitides, Herpetic"", ""Meningoencephalitis, Herpes Simplex"", ""Meningoencephalitis, Herpes Simplex Virus"", ""Meningoencephalitis, Herpetic""" """MeSH:D020803(Encephalitis, Herpes Simplex)"", ""SnoMedCT:428638009(Encephalitis due to Herpesviridae)"", ""UMLS:C0276226(C0276226)"", ""MedDRA:10014590(Encephalitis herpes)"", ""NDFRT:N0000004193(Encephalitis, Herpes Simplex [Disease/Finding])"", ""MONDO:MONDO:0012521(herpes simplex encephalitis)"", ""HP:HP:0012302(Herpes simplex encephalitis)""" +PA166048785 Herpesviridae Infections MONDO:MONDO:0005794(Herpesviridae infectious disease) +PA444466 Herpes Zoster """Herpes zoster"", ""Herpes zoster infection"", ""Herpes zoster without mention of complication"", ""Herpes zoster, NOS"", ""Shingles"", ""Zona"", ""Zoster""" MONDO:MONDO:0005609(herpes zoster) +PA166048725 Hiccup NDFRT:N0000001534(Hiccup), HP:HP:0100247(Recurrent singultus) +PA166163563 high on-treatment platelet reactivity +PA166048896 High Pressure Neurological Syndrome NDFRT:N0000001536(High Pressure Neurological Syndrome), MONDO:MONDO:0002570(high pressure neurological syndrome) +PA444476 Hip Fractures """Fractures, Hip"", ""Fractures, Intertrochanteric"", ""Fractures, Subtrochanteric"", ""Fractures, Trochanteric"", ""Intertrochanteric Fractures"", ""Subtrochanteric Fractures"", ""Trochanteric Fractures""" MeSH:D006620(Hip Fractures), SnoMedCT:263230006(Hip fracture NOS), UMLS:C0019557(C0019557), MedDRA:10006387(Broken hip), NDFRT:N0000001540(Hip Fractures [Disease/Finding]), MONDO:MONDO:0005327(hip fracture) +PA444478 Hirschsprung Disease """Aganglionic megacolon"", ""Aganglionoses, Colonic"", ""Aganglionosis"", ""Aganglionosis, Colonic"", ""Colonic Aganglionoses"", ""Colonic Aganglionosis"", ""Congenital Megacolon"", ""Congenital aganglionic megacolon"", ""Congenital megacolon"", ""Disease, Hirschsprung"", ""Disease, Hirschsprung's"", ""Hirschsprung's Disease"", ""Hirschsprung's disease"", ""Hirschsprung's disease NOS"", ""Hirschsprungs Disease"", ""Macrocolon"", ""Megacolon, Congenital""" MeSH:D006627(Hirschsprung Disease), SnoMedCT:204739008(Hirschsprung's disease), SnoMedCT:204742002(Hirschsprung's disease NOS), SnoMedCT:360436002(Congenital megacolon), SnoMedCT:367495003(Macrocolon), UMLS:C0019569(C0019569), MedDRA:10001472(Aganglionic megacolon), NDFRT:N0000001542(Hirschsprung Disease [Disease/Finding]), MONDO:MONDO:0018309(Hirschsprung disease) +PA444479 Hirsutism Hirsutes, Hirsuties, Pilosis MeSH:D006628(Hirsutism), SnoMedCT:399939002(Hirsutism), UMLS:C0019572(C0019572), MedDRA:10019052(Hairiness), NDFRT:N0000001543(Hirsutism [Disease/Finding]), HP:HP:0001007(Hirsutism) +PA166332801 histamine intolerance MedDRA:10068652(Histamine intolerance) +PA446205 Histiocytosis """Histiocytic reaction, NOS"", ""Histiocytoses"", ""Histiocytosis, NOS"", ""Histiocytosis, unspecified"", ""Reticuloendothelial cell infiltrate"", ""Reticulohistiocytosis"", ""Reticulosis, NOS""" """MeSH:D015614(Histiocytosis)"", ""SnoMedCT:190957008(Histiocytosis, unspecified)"", ""SnoMedCT:60657004(Histiocytosis)"", ""SnoMedCT:65396000(Histiocytic infiltrate)"", ""UMLS:C0019618(C0019618)"", ""MedDRA:10020118(Histiocytoses)"", ""NDFRT:N0000003294(Histiocytosis [Disease/Finding])"", ""MONDO:MONDO:0002637(histiocytosis)"", ""HP:HP:0100727(Histiocytosis)""" +PA444749 Histiocytosis, Langerhans-Cell """Differentiated progressive histiocytosis"", ""Disease, Letterer-Siwe"", ""Generalized Histiocytoses"", ""Generalized Histiocytosis"", ""Histiocytoses, Generalized"", ""Histiocytosis X"", ""Histiocytosis X , unspecified"", ""Histiocytosis X [obs]"", ""Histiocytosis X syndrome"", ""Histiocytosis X, unspecified"", ""Histiocytosis, Generalized"", ""Langerhan's cell histiocytosis"", ""Langerhans cell granulomatosis"", ""Langerhans cell histiocytosis"", ""Langerhans cell histiocytosis, no ICD-O subtype"", ""Letterer Siwe Disease"", ""Letterer-Siwe Disease""" MONDO:MONDO:0018310(Langerhans cell histiocytosis) +PA444482 Histoplasmosis """Histoplasmoses"", ""Histoplasmosis, NOS"", ""Unspecified histoplasmosis infection""" MONDO:MONDO:0018312(histoplasmosis), HP:HP:0032256(Histoplasmosis) +PA166394201 history of gastric bypass surgery HP:HP:6000179(History of gastric bypass surgery) +PA447230 HIV infectious disease """HIV - Human immunodeficiency virus infection"", ""HIV Infection"", ""HIV seropositivity"", ""HTLV III Infections"", ""HTLV III LAV Infections"", ""HTLV-III Infection"", ""HTLV-III Infections"", ""HTLV-III-LAV Infection"", ""HTLV-III-LAV Infections"", ""Infection, HIV"", ""Infection, HTLV-III"", ""Infection, HTLV-III-LAV"", ""Infections, HIV"", ""Infections, HTLV-III"", ""Infections, HTLV-III-LAV"", ""T Lymphotropic Virus Type III Infections, Human"", ""T-Lymphotropic Virus Type III Infections, Human"", ""human immunodeficiency virus infectious disease""" MeSH:D015658(HIV Infections), SnoMedCT:86406008(Human immunodeficiency virus infection), UMLS:C0019693(C0019693), MedDRA:10020160(HIV disease), NDFRT:N0000003302(HIV Infections [Disease/Finding]), MONDO:MONDO:0005109(HIV infectious disease) +PA444485 Hodgkin Disease """Disease, Hodgkin"", ""Disease, Hodgkin's"", ""Disease, Hodgkins"", ""Diseases, Hodgkins"", ""Granuloma, Hodgkin"", ""Granuloma, Hodgkin's"", ""Granuloma, Hodgkins"", ""Granuloma, Malignant"", ""HD - Hodgkin's disease"", ""Hodgkin Granuloma"", ""Hodgkin lymphoma"", ""Hodgkin lymphoma, no ICD-O subtype"", ""Hodgkin's Disease"", ""Hodgkin's Granuloma"", ""Hodgkin's disease"", ""Hodgkin's disease NOS"", ""Hodgkin's disease, NOS"", ""Hodgkin's paragranuloma of unspecified site"", ""Hodgkin's sarcoma"", ""Hodgkin's sarcoma NOS"", ""Hodgkins Disease"", ""Hodgkins Diseases"", ""Hodgkins Granuloma"", ""Lymphogranuloma, Malignant"", ""Lymphogranulomas, Malignant"", ""Malignant Granuloma"", ""Malignant Granulomas"", ""Malignant Hodgkin's lymphoma"", ""Malignant Lymphogranuloma"", ""Malignant Lymphogranulomas"", ""Malignant lymphoma, Hodgkin's"", ""[M]Hodgkin's disease""" """MeSH:D006689(Hodgkin Disease)"", ""SnoMedCT:118599009(Hodgkin's disease)"", ""SnoMedCT:118606001(Hodgkin's sarcoma)"", ""SnoMedCT:14537002(Hodgkin lymphoma)"", ""SnoMedCT:188522003(Hodgkin's paragranuloma of unspecified site)"", ""SnoMedCT:188532005(Hodgkin's paragranuloma NOS)"", ""SnoMedCT:188543002(Hodgkin's sarcoma of unspecified site)"", ""SnoMedCT:188552006(Hodgkin's sarcoma NOS)"", ""SnoMedCT:188595005(Hodgkin's disease NOS)"", ""SnoMedCT:188596006(Hodgkin's disease NOS, unspecified site)"", ""SnoMedCT:46923007(Hodgkin sarcoma [obs])"", ""UMLS:C0019829(C0019829)"", ""MedDRA:10020205(Hodgins)"", ""NDFRT:N0000001550(Hodgkin Disease [Disease/Finding])"", ""MONDO:MONDO:0004952(Hodgkins lymphoma)""" +PA444487 Homocystinuria """Cystathionine beta Synthase Deficiency Disease"", ""Cystathionine beta-Synthase Deficiency Disease"", ""Deficiency Disease, Cystathionine beta Synthase"", ""Deficiency Disease, Cystathionine beta-Synthase"", ""Homocystinuria, NOS""" MeSH:D006712(Homocystinuria), SnoMedCT:11282001(Homocystinuria), UMLS:C0019880(C0019880), MedDRA:10020365(Homocystinuria), NDFRT:N0000001552(Homocystinuria [Disease/Finding]), MONDO:MONDO:0004737(homocystinuria), HP:HP:0002156(Homocystinuria) +PA166114924 Homozygous familial hypercholesterolemia Familial hypercholesterolemia - homozygous MeSH:D000090542(Homozygous Familial Hypercholesterolemia), SnoMedCT:238078005(Familial hypercholesterolemia - homozygous), MedDRA:10057080(Homozygous familial hypercholesterolemia), MONDO:MONDO:0018328(homozygous familial hypercholesterolemia) +PA446852 Hot Flashes """Flashes, Hot"", ""Hot flashes"", ""Menopausal hot flushes""" MeSH:D019584(Hot Flashes), SnoMedCT:198436008(Menopausal flushing), UMLS:C0600142(C0600142), MedDRA:10016350(Feeling of hot flushes), NDFRT:N0000003943(Hot Flashes [Disease/Finding]), HP:HP:0031217(Hot flashes) +PA162372881 H Syndrome MONDO:MONDO:0011273(H syndrome) +PA447189 Human papilloma virus infection """Disease due to Papilloma virus"", ""Disease due to Papilloma virus, NOS"", ""HPV infection"", ""Papillomavirus Infection""" MeSH:D030361(Papillomavirus Infections), SnoMedCT:30415006(Disease due to Papilloma virus), UMLS:C0950124(C0950124), MedDRA:10061331(Papilloma viral infection), NDFRT:N0000011003(Papillomavirus Infections [Disease/Finding]), MONDO:MONDO:0005161(human papilloma virus infection) +PA444494 Huntington Disease """Akinetic Rigid Variant of Huntington Disease"", ""Akinetic-Rigid Variant of Huntington Disease"", ""Chorea, Chronic Progressive Hereditary (Huntington)"", ""Chorea, Huntington"", ""Chorea, Huntington's"", ""Chronic Progressive Hereditary Chorea (Huntington)"", ""HC - Huntington chorea"", ""Huntington Chorea"", ""Huntington Chronic Progressive Hereditary Chorea"", ""Huntington Disease, Akinetic Rigid Variant"", ""Huntington Disease, Akinetic-Rigid Variant"", ""Huntington Disease, Juvenile"", ""Huntington Disease, Juvenile Onset"", ""Huntington Disease, Juvenile-Onset"", ""Huntington Disease, Late Onset"", ""Huntington Disease, Late-Onset"", ""Huntington's Chorea"", ""Huntington's Disease"", ""Huntington's chorea"", ""Juvenile Huntington Disease"", ""Juvenile Onset Huntington Disease"", ""Juvenile-Onset Huntington Disease"", ""Late Onset Huntington Disease"", ""Late-Onset Huntington Disease"", ""Progressive Chorea, Chronic Hereditary (Huntington)"", ""Progressive Chorea, Hereditary, Chronic (Huntington)""" MeSH:D006816(Huntington Disease), SnoMedCT:58756001(Huntington's chorea), UMLS:C0020179(C0020179), MedDRA:10020469(Huntington's chorea), NDFRT:N0000001558(Huntington Disease [Disease/Finding]), MONDO:MONDO:0007739(Huntington disease) +PA444495 Hyaline Membrane Disease """Disease, Hyaline Membrane"", ""Diseases, Hyaline Membrane"", ""Hyaline Membrane Diseases""" MONDO:MONDO:0009971(respiratory distress syndrome in premature infants), MONDO:MONDO:0700081(newborn respiratory distress syndrome) +PA446101 Hydrops Fetalis """Edema, Fetal"", ""Edemas, Fetal"", ""Fetal Edema"", ""Fetal Edemas"", ""Fetal Hydrops"", ""HF - Hydrops fetalis"", ""Hydrops fetalis"", ""Hydrops, Fetal""" MeSH:D015160(Hydrops Fetalis), SnoMedCT:276508000(Hydrops fetalis), UMLS:C0020305(C0020305), MedDRA:10020526(Hydrops fetalis), NDFRT:N0000003191(Hydrops Fetalis [Disease/Finding]), MONDO:MONDO:0015193(hydrops fetalis), cpgxTags:pgkbTags:1452102240(Maternal Health), HP:HP:0001789(Hydrops fetalis) +PA166048838 Hymenolepiasis NDFRT:N0000001572(Hymenolepiasis), MONDO:MONDO:0005802(hymenolepiasis) +PA444509 Hyperaldosteronism """Aldosteronism"", ""Aldosteronism, NOS"", ""Conn Disease"", ""Conn's Disease"", ""Conns Disease"", ""Disease, Conn"", ""Disease, Conn's"", ""Hyperaldosteronism NOS""" MeSH:D006929(Hyperaldosteronism), SnoMedCT:190509005(Hyperaldosteronism NOS), SnoMedCT:88213004(Aldosteronism), UMLS:C0020428(C0020428), MedDRA:10001656(Aldosteronism), NDFRT:N0000001573(Hyperaldosteronism [Disease/Finding]), MONDO:MONDO:0001422(primary aldosteronism), MONDO:MONDO:0003009(hyperaldosteronism) +PA444510 Hyperalgesia """Hyperalgesia, Primary"", ""Hyperalgesia, Secondary"", ""Hyperalgesia, Tactile"", ""Hyperalgesia, Thermal"", ""Hyperalgesias"", ""Hyperalgesias, Primary"", ""Hyperalgesias, Secondary"", ""Hyperalgesias, Tactile"", ""Hyperalgesias, Thermal"", ""Hyperalgesic Sensation"", ""Hyperalgesic Sensations"", ""Primary Hyperalgesia"", ""Primary Hyperalgesias"", ""Secondary Hyperalgesia"", ""Secondary Hyperalgesias"", ""Sensation, Hyperalgesic"", ""Sensations, Hyperalgesic"", ""Tactile Hyperalgesia"", ""Tactile Hyperalgesias"", ""Thermal Hyperalgesia"", ""Thermal Hyperalgesias""" MeSH:D006930(Hyperalgesia), SnoMedCT:55406008(Hyperalgesia), UMLS:C0020429(C0020429), MedDRA:10020573(Hyperalgesia), NDFRT:N0000001574(Hyperalgesia [Disease/Finding]), HP:HP:0012534(Dysesthesia) +PA447146 Hyperammonemia """Hyperammonaemia"", ""Hyperammonemia, NOS"", ""Hyperammonemias""" MeSH:D022124(Hyperammonemia), SnoMedCT:9360008(Hyperammonaemia), UMLS:C0220994(C0220994), MedDRA:10020575(Hyperammonaemia), NDFRT:N0000004249(Hyperammonemia [Disease/Finding]), HP:HP:0001987(Hyperammonemia) +PA444511 Hyperbilirubinemia Bilirubinaemia, Bilirubinemia, Bilirubinemias, Hyperbilirubinaemia, Hyperbilirubinemias MeSH:D006932(Hyperbilirubinemia), SnoMedCT:14783006(Hyperbilirubinaemia), UMLS:C0020433(C0020433), MedDRA:10004702(Bilirubinaemia), NDFRT:N0000001575(Hyperbilirubinemia [Disease/Finding]), MONDO:MONDO:0024288(hyperbilirubinemia), HP:HP:0002904(Hyperbilirubinemia) +PA444513 Hypercalcemia """Hypercalcaemia"", ""Hypercalcaemia syndrome"", ""Hypercalcemias"", ""Milk Alkali Syndrome"", ""Milk-Alkali Syndrome"", ""Syndrome, Milk-Alkali""" MeSH:D006934(Hypercalcemia), SnoMedCT:66931009(Hypercalcaemia), UMLS:C0020437(C0020437), MedDRA:10005396(Blood calcium increased), NDFRT:N0000001577(Hypercalcemia [Disease/Finding]), MONDO:MONDO:0001566(hypercalcemia disease), HP:HP:0003072(Hypercalcemia) +PA166048891 Hypercapnia NDFRT:N0000001578(Hypercapnia), HP:HP:0012416(Hypercapnia) +PA444516 Hypercholesterolemia """Hypercholesteremia"", ""Hypercholesteremias"", ""Hypercholesterolaemia"", ""Hypercholesterolaemia, NOS"", ""Hypercholesterolemia, NOS"", ""Hypercholesterolemias""" MeSH:D006937(Hypercholesterolemia), SnoMedCT:13644009(Hypercholesterolemia), UMLS:C0020443(C0020443), MedDRA:10014476(Elevated cholesterol), NDFRT:N0000001580(Hypercholesterolemia [Disease/Finding]), HP:HP:0003124(Hypercholesterolemia) +PA446529 Hypereosinophilic Syndrome """Chronic eosinophilic leukaemia"", ""Chronic eosinophilic leukemia"", ""Endocarditis, Loeffler"", ""Endocarditis, Loeffler's"", ""Endocarditis, Loefflers"", ""Eosinophilic Leukemia"", ""Eosinophilic Leukemias"", ""Hypereosinophilic Syndrome, Idiopathic"", ""Hypereosinophilic Syndromes"", ""Hypereosinophilic Syndromes, Idiopathic"", ""Hypereosinophilic syndrome"", ""Idiopathic Hypereosinophilic Syndrome"", ""Idiopathic Hypereosinophilic Syndromes"", ""Leukemia, Eosinophilic"", ""Leukemias, Eosinophilic"", ""Loeffler Endocarditis"", ""Loeffler's Endocarditis"", ""Loefflers Endocarditis"", ""Syndrome, Hypereosinophilic"", ""Syndrome, Idiopathic Hypereosinophilic"", ""Syndromes, Hypereosinophilic"", ""Syndromes, Idiopathic Hypereosinophilic""" MeSH:D017681(Hypereosinophilic Syndrome), SnoMedCT:128835008(Hypereosinophilic syndrome), UMLS:C1540912(C1540912), MedDRA:10048643(Hypereosinophilic syndrome), NDFRT:N0000003620(Hypereosinophilic Syndrome [Disease/Finding]), MONDO:MONDO:0015691(hypereosinophilic syndrome) +PA444522 Hyperglycemia Hyperglycaemia, Hyperglycemias, [D]Elevated blood glucose level, [D]Hyperglycaemia, [D]Hyperglycemia MeSH:D006943(Hyperglycemia), SnoMedCT:315299009([D]Hyperglycemia), SnoMedCT:80394007(Hyperglycemia), UMLS:C0020456(C0020456), MedDRA:10020635(Hyperglycaemia), NDFRT:N0000001586(Hyperglycemia [Disease/Finding]), MONDO:MONDO:0002909(hyperglycemia), HP:HP:0003074(Hyperglycemia) +PA444524 Hyperhidrosis Hyperhydrosis disorder, [D]Hyperhidrosis MeSH:D006945(Hyperhidrosis), SnoMedCT:206774006([D]Hyperhidrosis), SnoMedCT:312230002(Hyperhydrosis disorder), UMLS:C0020458(C0020458), MedDRA:10020642(Hyperhidrosis), NDFRT:N0000001588(Hyperhidrosis [Disease/Finding]), HP:HP:0000975(Hyperhidrosis) +PA446892 Hyperhomocysteinemia Hyperhomocysteinemias MeSH:D020138(Hyperhomocysteinemia), SnoMedCT:419503008(Hyperhomocysteinemia), UMLS:C0598608(C0598608), MedDRA:10051286(Hyperhomocysteinaemia), NDFRT:N0000003996(Hyperhomocysteinemia [Disease/Finding]), MONDO:MONDO:0004743(hyperhomocysteinemia) +PA444525 Hyperinsulinism """Familial hyperinsulinaemia with pancreatic nesidioblastosis"", ""Familial hyperinsulinemia with pancreatic nesidioblastosis"", ""Hyperinsulinaemia due to nesidioblastosis"", ""Hyperinsulinaemia due to pancreatic islet beta cell hyperplasia"", ""Hyperinsulinemia"", ""Hyperinsulinemia due to nesidioblastosis"", ""Hyperinsulinemia due to pancreatic islet beta cell hyperplasia"", ""Hyperinsulinemias"", ""Hyperinsulinism, NOS"", ""Hyperinsulinisms"", ""PHHI - Persistent hyperinsulinaemic hypoglycaemia of infancy"", ""PHHI - Persistent hyperinsulinaemic hypoglycemia of infancy"", ""PHHI - Persistent hyperinsulinemic hypoglycemia of infancy"", ""Persistent Hyperinsulinemia Hypoglycemia of Infancy"", ""Persistent hyperinsulinaemic hypoglycaemia of infancy"", ""Persistent hyperinsulinaemic hypoglycemia of infancy"", ""Persistent hyperinsulinemic hypoglycemia of infancy""" MeSH:D006946(Hyperinsulinism), MeSH:D044903(Congenital Hyperinsulinism), SnoMedCT:360337007(PHHI - Persistent hyperinsulinemic hypoglycemia of infancy), SnoMedCT:360339005(Persistent hyperinsulinemic hypoglycemia of infancy), SnoMedCT:83469008(Hyperinsulinism), UMLS:C0020459(C0020459), UMLS:C1257959(C1257959), MedDRA:10060378(Hyperinsulinaemia), NDFRT:N0000001589(Hyperinsulinism [Disease/Finding]), MONDO:MONDO:0002177(hyperinsulinism) +PA444526 Hyperkalemia Hyperkalaemia, Hyperkalaemic syndrome, Hyperkalemias, Hyperkalemic syndrome, Hyperpotassaemia, Hyperpotassemia, Hyperpotassemias, K excess, K overload, Potassium excess, Potassium overload MeSH:D006947(Hyperkalemia), SnoMedCT:14140009(Hyperkalaemia), SnoMedCT:238142003(Potassium overload), UMLS:C0020461(C0020461), MedDRA:10020646(Hyperkalaemia), NDFRT:N0000001590(Hyperkalemia [Disease/Finding]), HP:HP:0002153(Hyperkalemia) +PA447049 Hyperkalemic Periodic Paralysis """Adynamia Episodica Hereditaria"", ""Adynamia episodica hereditaria"", ""Familial Hyperkalemic Periodic Paralysis"", ""Familial hyperkalaemic periodic paralysis"", ""Familial hyperkalemic periodic paralysis"", ""Gamstorp disease"", ""Hyperkalaemic periodic paralysis"", ""Hyperkalemic Periodic Paralyses"", ""Hyperkalemic Periodic Paralysis"", ""Hyperkalemic Periodic Paralysis, Familial"", ""Hyperkalemic periodic paralysis"", ""Myotonic Periodic Paralyses"", ""Myotonic Periodic Paralysis"", ""Myotonic periodic paralysis"", ""Paralyses, Hyperkalemic Periodic"", ""Paralyses, Myotonic Periodic"", ""Paralysis, Myotonic Periodic"", ""Paralysis, Periodic, Hyperkalemic, Familial"", ""Periodic Paralyses, Hyperkalemic"", ""Periodic Paralyses, Myotonic"", ""Periodic Paralysis, Hyperkalemic"", ""Periodic Paralysis, Myotonic"", ""Periodic paralysis II"", ""Primary Hyperkalemic Periodic Paralysis""" """MeSH:D020513(Paralysis, Hyperkalemic Periodic)"", ""SnoMedCT:278513006(Familial hyperkalemic periodic paralysis)"", ""SnoMedCT:304737009(Periodic paralysis II)"", ""UMLS:C0238357(C0238357)"", ""NDFRT:N0000004155(Paralysis, Hyperkalemic Periodic [Disease/Finding])"", ""MONDO:MONDO:0008224(hyperkalemic periodic paralysis)""" +PA446493 Hyperkeratosis, Epidermolytic """BIE - Bullous ichthyosiform erythroderma"", ""Bullous Congenital Ichthyosiform Erythroderma"", ""Bullous Erythroderma Ichthyosiforme"", ""Bullous ichthyosiform erythroderma"", ""Congenital Bullous Ichthyosiform Erythroderma"", ""Epidermolytic Hyperkeratoses"", ""Epidermolytic Hyperkeratosis"", ""Epidermolytic hyperkeratosis"", ""Erythroderma Ichthyosiforme, Bullous"", ""Hyperkeratoses, Epidermolytic"", ""Ichthyosiform Erythroderma, Bullous Congenital""" """MeSH:D017488(Hyperkeratosis, Epidermolytic)"", ""SnoMedCT:254167000(Bullous ichthyosiform erythroderma)"", ""UMLS:C0079153(C0079153)"", ""MedDRA:10006562(Bullous ichthyosiform erythroderma)"", ""NDFRT:N0000003584(Hyperkeratosis, Epidermolytic [Disease/Finding])"", ""MONDO:MONDO:0007239(epidermolytic ichthyosis)""" +PA444527 Hyperkinesis """Generalized Hyperkinesia"", ""Generalized Hyperkinesias"", ""HA - Hyperactivity"", ""Hyperactive behaviour"", ""Hyperactivity, Motor"", ""Hyperactivity, NOS"", ""Hyperkinesia"", ""Hyperkinesia, Generalized"", ""Hyperkinesias, Generalized"", ""Hyperkinesis, NOS"", ""Hyperkinetic Movement"", ""Hyperkinetic Movements"", ""Increased purposeful goal-directed activity"", ""Increased purposeful goal-directed activity, NOS"", ""Motor Hyperactivity"", ""Movement, Hyperkinetic"", ""Movements, Hyperkinetic""" MeSH:D006948(Hyperkinesis), SnoMedCT:44548000(Hyperactive behaviour), UMLS:C0424295(C0424295), MedDRA:10004205(Behavior hyperactive), NDFRT:N0000001591(Hyperkinesis [Disease/Finding]), HP:HP:0002487(Hyperkinetic movements) +PA444529 Hyperlipidemia, Familial Combined """Combined Hyperlipidemia, Familial"", ""Combined Hyperlipidemias, Familial"", ""FCHL - Familial combined hyperlipidaemia"", ""FCHL - Familial combined hyperlipidemia"", ""Familial Combined Hyperlipidemia"", ""Familial Combined Hyperlipidemias"", ""Familial combined hyperlipidaemia"", ""Familial combined hyperlipidemia"", ""Familial hyperlipoproteinaemia type IIb"", ""Familial hyperlipoproteinemia type IIb"", ""Familial multiple lipoprotein-type hyperlipidemia"", ""Fredrickson type IIb hyperlipoproteinaemia"", ""Hyperapobetalipoproteinaemia"", ""Hyperapobetalipoproteinemia"", ""Hyperlipidemia, Multiple Lipoprotein Type"", ""Hyperlipidemia, Multiple Lipoprotein-Type"", ""Hyperlipidemias, Familial Combined"", ""Hyperlipidemias, Multiple Lipoprotein-Type"", ""Lipoprotein-Type Hyperlipidemia, Multiple"", ""Lipoprotein-Type Hyperlipidemias, Multiple"", ""Mixed hyperlipidaemia"", ""Mixed hyperlipidemia"", ""Multiple Lipoprotein-Type Hyperlipidemia"", ""Multiple Lipoprotein-Type Hyperlipidemias"", ""Multiple-type hyperlipidemia""" """MeSH:D006950(Hyperlipidemia, Familial Combined)"", ""SnoMedCT:238040008(Familial combined hyperlipidemia)"", ""SnoMedCT:267434003(Mixed hyperlipidemia)"", ""SnoMedCT:299465007(Familial multiple lipoprotein-type hyperlipidemia)"", ""UMLS:C0020474(C0020474)"", ""MedDRA:10027762(Mixed hyperlipidaemia)"", ""NDFRT:N0000001593(Hyperlipidemia, Familial Combined [Disease/Finding])"", ""MONDO:MONDO:0001807(obsolete familial combined hyperlipidemia)""" +PA444528 Hyperlipidemias Dyslipidemia, Dyslipidemias, Hyperlipemia, Hyperlipemias, Hyperlipidaemia NOS, Hyperlipidemia, Hyperlipidemia NOS, Hyperlipidemias MeSH:D006949(Hyperlipidemias), SnoMedCT:190782002(Hyperlipidemia NOS), SnoMedCT:55822004(Hyperlipidemia), UMLS:C0020473(C0020473), MedDRA:10020661(Hyperlipaemia), NDFRT:N0000001592(Hyperlipidemias [Disease/Finding]), MONDO:MONDO:0001336(familial hyperlipidemia), MONDO:MONDO:0021187(hyperlipidemia) +PA444530 Hyperlipoproteinemias """Familial type V hyperlipoproteinaemia"", ""Familial type V hyperlipoproteinemia"", ""Fredrickson type V hyperlipoproteinaemia"", ""Fredrickson type V hyperlipoproteinemia"", ""Hyperlipoproteinaemia"", ""Hyperlipoproteinemia"", ""Hyperlipoproteinemia Type V"", ""Hyperlipoproteinemia, NOS"", ""Hyperlipoproteinemias""" MeSH:D006951(Hyperlipoproteinemias), SnoMedCT:3744001(Hyperlipoproteinaemia), UMLS:C0020476(C0020476), MedDRA:10058221(Hyperlipoproteinaemia), NDFRT:N0000001594(Hyperlipoproteinemias [Disease/Finding]), MONDO:MONDO:0037748(hyperlipoproteinemia) +PA444517 Hyperlipoproteinemia Type II """Essential Hypercholesterolemia"", ""Essential Hypercholesterolemias"", ""Essential familial hypercholesterolemia"", ""Familial Hypercholesterolemia"", ""Familial Hypercholesterolemias"", ""Familial hypercholesterolaemia"", ""Hyperbetalipoproteinemia"", ""Hyperbetalipoproteinemias"", ""Hypercholesterolemia, Essential"", ""Hypercholesterolemia, Familial"", ""Hypercholesterolemias, Essential"", ""Hypercholesterolemias, Familial"", ""Hyperlipoproteinemia Type II"", ""Hyperlipoproteinemia Type IIs"", ""IIs, Hyperlipoproteinemia Type"", ""LDL - Low density lipoprotein receptor disorder"", ""LDL receptor disorder"", ""Type II, Hyperlipoproteinemia"", ""Type IIs, Hyperlipoproteinemia""" MeSH:D006938(Hyperlipoproteinemia Type II), SnoMedCT:190773008(Hyperbetalipoproteinemia), SnoMedCT:398036000(Familial hypercholesterolaemia), UMLS:C0020445(C0020445), MedDRA:10049593(Familial hypercholesterolaemia), NDFRT:N0000001581(Hyperlipoproteinemia Type II [Disease/Finding]), MONDO:MONDO:0005439(familial hypercholesterolemia) +PA444534 Hypernatremia Hypernatraemia, Hypernatremias HP:HP:0003228(Hypernatremia) +PA446200 Hyperostosis """Bone Hypertrophies"", ""Bone Hypertrophy"", ""Bony overgrowth"", ""Hyperostoses"", ""Hyperostosis, NOS"", ""Hypertrophies, Bone"", ""Hypertrophy of bone"", ""Hypertrophy, Bone""" MeSH:D015576(Hyperostosis), SnoMedCT:13814009(Hypertrophy of bone), SnoMedCT:203514008(Hypertrophy of bone), UMLS:C0020492(C0020492), MedDRA:10005973(Bone hypertrophy), NDFRT:N0000003289(Hyperostosis [Disease/Finding]), MONDO:MONDO:0002185(hyperostosis), HP:HP:0100774(Hyperostosis) +PA444538 Hyperoxaluria Oxaluria HP:HP:0003159(Hyperoxaluria) +PA444540 Hyperparathyroidism """HPTH - Hyperparathyroidism"", ""Hyperparathyroidism, NOS""" MeSH:D006961(Hyperparathyroidism), SnoMedCT:66999008(Hyperparathyroidism), UMLS:C0020502(C0020502), MedDRA:10020705(Hyperparathyroidism), NDFRT:N0000001604(Hyperparathyroidism [Disease/Finding]), MONDO:MONDO:0001741(hyperparathyroidism), HP:HP:0000843(Hyperparathyroidism) +PA444542 Hyperphagia Excessive eating - polyphagia, Gluttony, Overeating, Overeats, [D]Bulimia NOS, [D]Excessive eating, [D]Polyphagia MeSH:D006963(Hyperphagia), SnoMedCT:206937004([D]Polyphagia), SnoMedCT:206939001([D]Excessive eating), SnoMedCT:206940004([D]Hyperalimentation), SnoMedCT:267023007(Excessive eating - polyphagia), SnoMedCT:58424009(Overeating), UMLS:C0020505(C0020505), MedDRA:10015598(Excessive eating), NDFRT:N0000001606(Hyperphagia [Disease/Finding]), HP:HP:0002591(Polyphagia) +PA446496 Hyperpigmentation of the skin """Hypermelanoses"", ""Hypermelanosis"", ""Hyperpigmentation, NOS""" MeSH:D017495(Hyperpigmentation), SnoMedCT:4830009(Hyperpigmentation), SnoMedCT:49765009(Hyperpigmentation of skin), UMLS:C0162834(C0162834), MedDRA:10050574(Hypermelanosis), NDFRT:N0000003587(Hyperpigmentation [Disease/Finding]), MONDO:MONDO:0019289(hyperpigmentation of the skin), HP:HP:0000953(Hyperpigmentation of the skin) +PA444544 Hyperplasia Deciduoma, Deciduomas, Hyperplasias MeSH:D006965(Hyperplasia), SnoMedCT:76197007(Hyperplasia), UMLS:C0020507(C0020507), MedDRA:10020718(Hyperplasia), NDFRT:N0000001608(Hyperplasia [Disease/Finding]), MONDO:MONDO:0005043(hyperplasia) +PA444545 Hyperprolactinemia """Hyperprolactinaemia"", ""Hyperprolactinemias"", ""Hypersecretion Syndrome, Prolactin"", ""Inappropriate Prolactin Secretion"", ""Inappropriate Prolactin Secretion Syndrome"", ""Inappropriate Secretion Prolactin"", ""Prolactin Hypersecretion Syndrome"", ""Prolactin Secretion, Inappropriate"", ""Prolactin, Inappropriate Secretion"", ""Secretion Prolactin, Inappropriate"", ""Secretion, Inappropriate Prolactin"", ""Syndrome, Prolactin Hypersecretion""" MeSH:D006966(Hyperprolactinemia), SnoMedCT:237662005(Hyperprolactinemia), UMLS:C0020514(C0020514), MedDRA:10020737(Hyperprolactinaemia), NDFRT:N0000001609(Hyperprolactinemia [Disease/Finding]), MONDO:MONDO:0005804(hyperprolactinemia), MONDO:MONDO:0024305(acquired hyperprolactinemia) +PA445509 Hyperreflexia """Abnormal Reflex"", ""Abnormal Reflexes"", ""Hyperreflexia"", ""Reflexes, Abnormal""" """MeSH:D012021(Reflex, Abnormal)"", ""MedDRA:10020745(hyperreflexia)"", ""MONDO:MONDO:0007774(hyperreflexia)"", ""HP:HP:0001347(Hyperreflexia)""" +PA444546 Hypersensitivity """Allergic Reaction"", ""Allergic Reactions"", ""Allergic reaction"", ""Allergic reaction NOS"", ""Allergic reaction to substance"", ""Allergic state"", ""Allergies"", ""Allergy"", ""Allergy, unspecified"", ""Atopic AND/OR hypersensitivity state"", ""Disorder due to immune hypersensitivity reaction"", ""Hypersensitivities"", ""Hypersensitivity reaction"", ""Immune hypersensitivity reaction"", ""Reaction, Allergic"", ""Reactions, Allergic""" """MeSH:D006967(Hypersensitivity)"", ""SnoMedCT:106190000(Allergy)"", ""SnoMedCT:257550005(Hypersensitivity)"", ""SnoMedCT:269284003(Allergy, unspecified)"", ""SnoMedCT:274211000(Allergic reaction NOS)"", ""SnoMedCT:418634005(Allergic reaction to substance)"", ""SnoMedCT:418925002(Immune hypersensitivity reaction)"", ""SnoMedCT:421668005(Immune hypersensitivity disorder)"", ""SnoMedCT:421961002(Hypersensitivity reaction)"", ""UMLS:C0020517(C0020517)"", ""MedDRA:10001718(Allergic reaction)"", ""NDFRT:N0000001610(Hypersensitivity [Disease/Finding])"", ""MONDO:MONDO:0005271(allergic disease)""" +PA444548 Hypersensitivity, Immediate """Atopic Hypersensitivities"", ""Atopic Hypersensitivity"", ""Hypersensitivities, Atopic"", ""Hypersensitivities, IgE-Mediated"", ""Hypersensitivities, Immediate"", ""Hypersensitivities, Type I"", ""Hypersensitivity, Atopic"", ""Hypersensitivity, IgE-Mediated"", ""Hypersensitivity, Type I"", ""IgE Mediated Hypersensitivity"", ""IgE-Mediated Hypersensitivities"", ""IgE-Mediated Hypersensitivity"", ""Immediate Hypersensitivities"", ""Immediate Hypersensitivity"", ""Immediate hypersensitivity disorder"", ""Type I Hypersensitivities"", ""Type I Hypersensitivity""" MONDO:MONDO:0007817(IgE responsiveness, atopic) +PA165108520 Hypersensitivity pneumonitis NOS """MeSH:D000542(Alveolitis, Extrinsic Allergic)"", ""SnoMedCT:195994002(Hypersensitivity pneumonitis NOS)"", ""UMLS:C0002390(C0002390)"", ""MedDRA:10001890(Alveolitis allergic)"", ""NDFRT:N0000000362(Alveolitis, Extrinsic Allergic [Disease/Finding])"", ""MONDO:MONDO:0017853(hypersensitivity pneumonitis)""" +PA444552 Hypertension """Blood Pressure, High"", ""Blood Pressures, High"", ""High Blood Pressure"", ""High Blood Pressures"", ""High blood pressure disorder"", ""Hypertension, NOS"", ""Hypertensive disease NOS"", ""Hypertensive vascular degeneration"", ""Hypertensive vascular disease"", ""Raised blood pressure"", ""Systemic arterial hypertension""" """MeSH:D006973(Hypertension)"", ""SnoMedCT:194794002(Hypertensive disease NOS)"", ""SnoMedCT:38341003(Hypertensive disorder, systemic arterial)"", ""UMLS:C0020538(C0020538)"", ""MedDRA:10005747(Blood pressure high)"", ""NDFRT:N0000001616(Hypertension [Disease/Finding])"", ""MONDO:MONDO:0005044(hypertensive disorder)"", ""HP:HP:0000822(Hypertension)""" +PA166048792 Hypertension, Malignant """NDFRT:N0000001617(Hypertension, Malignant)"", ""MONDO:MONDO:0006846(malignant hypertension)""" +PA166048924 Hypertension, Portal """NDFRT:N0000001618(Hypertension, Portal)"", ""MONDO:MONDO:0005080(portal hypertension)"", ""HP:HP:0001409(Portal hypertension)""" +PA444557 Hypertension, Renovascular """Goldblatt Hypertension"", ""Hypertension due to renovascular disease"", ""Hypertension, Goldblatt"", ""Hypertensions, Renovascular"", ""Renovascular Hypertension"", ""Renovascular Hypertensions"", ""Renovascular hypertension""" MONDO:MONDO:0006947(renovascular hypertension), HP:HP:0100817(Renovascular hypertension) +PA166152848 hypertensive nephrosclerosis Hypertensive nephrosclerosis (disorder) SnoMedCT:473392002(Hypertensive nephrosclerosis) +PA444558 Hyperthyroidism Hyperthyroidism, NOS MeSH:D006980(Hyperthyroidism), SnoMedCT:34486009(Hyperthyroidism), UMLS:C0020550(C0020550), MedDRA:10020850(Hyperthyroidism), NDFRT:N0000001622(Hyperthyroidism [Disease/Finding]), MONDO:MONDO:0004425(hyperthyroidism), HP:HP:0000836(Hyperthyroidism) +PA446120 Hypertriglyceridemia Hypertriglyceridaemia, Hypertriglyceridemias MeSH:D015228(Hypertriglyceridemia), SnoMedCT:302870006(Hypertriglyceridaemia), UMLS:C0020557(C0020557), MedDRA:10014486(Elevated triglycerides), NDFRT:N0000003210(Hypertriglyceridemia [Disease/Finding]), MONDO:MONDO:0005347(hypertriglyceridemia), HP:HP:0002155(Hypertriglyceridemia) +PA443633 Hypertrophic cardiomyopathy """Asymmetric Septal Hypertrophies"", ""Asymmetric Septal Hypertrophy"", ""Cardiomyopathies, Hypertrophic"", ""Cardiomyopathies, Hypertrophic Obstructive"", ""Cardiomyopathy, Hypertrophic Obstructive"", ""HCM - Hypertrophic cardiomyopathy"", ""HOCM - Hypertrophic obstructive cardiomyopathy"", ""Hypertrophic Cardiomyopathies"", ""Hypertrophic Cardiomyopathy"", ""Hypertrophic Obstructive Cardiomyopathies"", ""Hypertrophic Obstructive Cardiomyopathy"", ""Hypertrophic cardiomyopathy"", ""Hypertrophic obstructive cardiomyopathy"", ""Hypertrophies, Asymmetric Septal"", ""Hypertrophy, Asymmetric Septal"", ""IHSS"", ""IHSSs"", ""Idiopathic Hypertrophic Subaortic Stenosis"", ""Idiopathic Hypertrophic Subvalvular Stenosis"", ""Obstructive Cardiomyopathies, Hypertrophic"", ""Obstructive Cardiomyopathy, Hypertrophic"", ""Obstructive cardiomyopathy"", ""Primary hypertrophic cardiomyopathy"", ""Septal Hypertrophies, Asymmetric"", ""Septal Hypertrophy, Asymmetric"", ""Subvalvular Stenosis, Idiopathic Hypertrophic""" """MeSH:D002312(Cardiomyopathy, Hypertrophic)"", ""SnoMedCT:233873004(Hypertrophic cardiomyopathy)"", ""SnoMedCT:45227007(Hypertrophic obstructive cardiomyopathy)"", ""UMLS:C0007194(C0007194)"", ""MedDRA:10020203(HOCM)"", ""NDFRT:N0000000687(Cardiomyopathy, Hypertrophic [Disease/Finding])"", ""MONDO:MONDO:0005045(hypertrophic cardiomyopathy)"", ""HP:HP:0001639(Hypertrophic cardiomyopathy)""" +PA446479 Hypertrophy, Left Ventricular """Hypertrophies, Left Ventricular"", ""LV+ - Left ventricular hypertrophy"", ""LVH - Left ventricular hypertrophy"", ""Left Ventricular Hypertrophies"", ""Left Ventricular Hypertrophy"", ""Ventricular Hypertrophies, Left"", ""Ventricular Hypertrophy, Left""" """MeSH:D017379(Hypertrophy, Left Ventricular)"", ""SnoMedCT:55827005(Left ventricular hypertrophy)"", ""UMLS:C0149721(C0149721)"", ""MedDRA:10050581(Left ventricular enlargement)"", ""NDFRT:N0000003570(Hypertrophy, Left Ventricular [Disease/Finding])"", ""HP:HP:0001712(Left ventricular hypertrophy)""" +PA166048814 Hyperuricemia NDFRT:N0000010234(Hyperuricemia), HP:HP:0002149(Hyperuricemia) +PA444563 Hypervitaminosis A MeSH:D006986(Hypervitaminosis A), SnoMedCT:64559002(Hypervitaminosis A), UMLS:C0020579(C0020579), MedDRA:10000033(A-hypervitaminosis), NDFRT:N0000001627(Hypervitaminosis A [Disease/Finding]), MONDO:MONDO:0006798(hypervitaminosis A) +PA166282841 hypervitaminosis d MedDRA:10020917(Hypervitaminosis D), MONDO:MONDO:0004937(hypervitaminosis D) +PA165108661 Hypoalbuminaemia Hypoalbuminemia, Serum albumin low MeSH:D034141(Hypoalbuminemia), SnoMedCT:119247004(Hypoalbuminaemia), UMLS:C0239981(C0239981), MedDRA:10020942(Hypoalbuminaemia), NDFRT:N0000011133(Hypoalbuminemia [Disease/Finding]), HP:HP:0003073(Hypoalbuminemia) +PA165108765 Hypobaropathy NOS MeSH:D000532(Altitude Sickness), SnoMedCT:212950008(Hypobaropathy NOS), UMLS:C0002351(C0002351), NDFRT:N0000000361(Altitude Sickness [Disease/Finding]), MONDO:MONDO:0006625(altitude sickness) +PA444567 Hypobetalipoproteinemias """Hypo-beta-lipoproteinemia"", ""Hypobetalipoproteinemia"", ""Hypobetalipoproteinemia, Familial, Apolipoprotein B"", ""Hypobetalipoproteinemias""" MeSH:D006995(Hypobetalipoproteinemias), SnoMedCT:190786004(Hypo-beta-lipoproteinemia), UMLS:C0020597(C0020597), NDFRT:N0000001631(Hypobetalipoproteinemias [Disease/Finding]), MONDO:MONDO:0017774(hypobetalipoproteinemia) +PA444568 Hypocalcemia Hypocalcemia syndrome, Hypocalcemias HP:HP:0002901(Hypocalcemia) +PA444570 Hypoglycemia Hypoglycaemia, Hypoglycaemia unspecified NOS, Hypoglycaemic disorder, Hypoglycaemic syndrome, Hypoglycemias, Hypoglycemic disorder MeSH:D007003(Hypoglycemia), SnoMedCT:190433001(Hypoglycemia unspecified), SnoMedCT:190436009(Hypoglycemia unspecified NOS), SnoMedCT:237630007(Hypoglycemic disorder), SnoMedCT:271327008(Hypoglycaemic syndrome), SnoMedCT:302866003(Hypoglycemia), UMLS:C0020615(C0020615), MedDRA:10020993(Hypoglycaemia), NDFRT:N0000001635(Hypoglycemia [Disease/Finding]), MONDO:MONDO:0004946(hypoglycemia), HP:HP:0001943(Hypoglycemia) +PA162372808 Hypogonadism """Genital Infantilism"", ""Genital Infantilisms"", ""Hypogonadism"", ""Hypogonadism, NOS"", ""Hypogonadisms"", ""Idiopathic Hypogonadotropic Hypogonadism"", ""Infantilism, Genital"", ""Infantilism, Sexual"", ""Infantilisms, Genital"", ""Infantilisms, Sexual"", ""Sexual Infantilism"", ""Sexual Infantilisms""" MeSH:D007006(Hypogonadism), SnoMedCT:48130008(Hypogonadism), UMLS:C0020619(C0020619), MedDRA:10058359(Hypogonadism), NDFRT:N0000001636(Hypogonadism [Disease/Finding]), MONDO:MONDO:0002146(hypogonadism), HP:HP:0000135(Hypogonadism) +PA444573 Hypokalemia Hypokalaemia, Hypokalaemic syndrome, Hypokalemias, Hypopotassaemia, Hypopotassaemia syndrome, Hypopotassemia, Hypopotassemia syndrome, Hypopotassemias, K deficiency, Potassium deficiency, Potassium depletion MeSH:D007008(Hypokalemia), SnoMedCT:43339004(Hypokalaemia), UMLS:C0020621(C0020621), MedDRA:10021015(Hypokalaemia), NDFRT:N0000001638(Hypokalemia [Disease/Finding]), MONDO:MONDO:0003019(potassium deficiency disease), HP:HP:0002900(Hypokalemia) +PA447050 Hypokalemic Periodic Paralysis """Familial Hypokalemic Periodic Paralysis"", ""Familial hypokalaemic periodic paralysis"", ""Familial hypokalemic periodic paralysis"", ""Hypokalaemic periodic paralysis"", ""Hypokalemic Periodic Paralysis, Familial"", ""Hypokalemic periodic paralysis"", ""Paralysis, Hypokalemic Periodic"", ""Periodic Paralysis, Hypokalemic"", ""Periodic paralysis I"", ""Primary Hypokalemic Periodic Paralysis""" MeSH:D020514(Hypokalemic Periodic Paralysis), SnoMedCT:240093008(Hypokalaemic periodic paralysis), SnoMedCT:82732003(Familial hypokalaemic periodic paralysis), UMLS:C0238358(C0238358), NDFRT:N0000004156(Hypokalemic Periodic Paralysis [Disease/Finding]), MONDO:MONDO:0008223(hypokalemic periodic paralysis) +PA446736 Hypokinesia """Antiorthostatic Hypokinesia"", ""Antiorthostatic Hypokinesias"", ""Behaviour showing reduced motor activity"", ""Bradykinesia"", ""Bradykinesias"", ""Decreased motor activity"", ""Decreased motor activity, NOS"", ""Experimental Hypokinesia"", ""Experimental Hypokinesias"", ""Hypoactivity"", ""Hypoactivity, NOS"", ""Hypodynamia"", ""Hypokinesia, Antiorthostatic"", ""Hypokinesia, Experimental"", ""Hypokinesia, NOS"", ""Hypokinesias, Antiorthostatic"", ""Hypokinesias, Experimental"", ""Hypokinesis"", ""Hypokinesis, NOS"", ""Hypokinetic"", ""Lack of physical activity"", ""Underactivity"", ""Underactivity, NOS""" MeSH:D018476(Hypokinesia), SnoMedCT:255385008(Hypokinetic), SnoMedCT:43994002(Behaviour showing reduced motor activity), UMLS:C0086439(C0086439), MedDRA:10000645(Activity motor retarded), NDFRT:N0000003825(Hypokinesia [Disease/Finding]), HP:HP:0002375(Hypokinesia) +PA166161973 hypomagnesemia primary """Hypomagnesemia 3, Renal"", ""Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium"", ""Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis"", ""Hypomagnesemia, isolated renal"", ""Magnesium, defect in renal tubular transport of""" MeSH:C537153(Hypomagnesemia primary), MONDO:MONDO:0009550(renal hypomagnesemia 3) +PA444575 Hyponatremia Hyponatremias, Salt deficiency MeSH:D007010(Hyponatremia), SnoMedCT:238115004(Sodium deficiency), SnoMedCT:89627008(Hyponatremia), UMLS:C0020625(C0020625), MedDRA:10005802(Blood sodium decreased), NDFRT:N0000001640(Hyponatremia [Disease/Finding]), HP:HP:0002902(Hyponatremia) +PA444576 Hypoparathyroidism Deficiency of parathyrin, Hypoparathyroidisms MeSH:D007011(Hypoparathyroidism), SnoMedCT:190457001(Hypoparathyroidism NOS), SnoMedCT:36976004(Hypoparathyroidism), UMLS:C0020626(C0020626), MedDRA:10021041(Hypoparathyroidism), NDFRT:N0000001641(Hypoparathyroidism [Disease/Finding]), MONDO:MONDO:0001220(hypoparathyroidism), HP:HP:0000829(Hypoparathyroidism) +PA446526 Hypophosphatemia Hypophosphataemia, Hypophosphatemias, Low blood phosphates MeSH:D017674(Hypophosphatemia), SnoMedCT:4996001(Hypophosphataemia), UMLS:C0085682(C0085682), MedDRA:10021058(Hypophosphataemia), NDFRT:N0000003617(Hypophosphatemia [Disease/Finding]), MONDO:MONDO:0000313(hypophosphatemia), HP:HP:0002148(Hypophosphatemia) +PA446752 Hypoplastic Left Heart Syndrome """Hypoplastic left heart syndrome"", ""Left Heart Syndrome, Hypoplastic""" MONDO:MONDO:0004933(hypoplastic left heart syndrome) +PA444584 Hypotensive disorder """Arterial hypotension"", ""Arterial hypotension, NOS"", ""Blood Pressure, Low"", ""Blood Pressures, Low"", ""Hypopiesis"", ""Hypotension"", ""Hypotension NOS"", ""Hypotension, NOS"", ""Hypotensions"", ""Low Blood Pressure"", ""Low Blood Pressures"", ""Low blood pressure""" MeSH:D007022(Hypotension), SnoMedCT:195508000(Hypotension NOS), SnoMedCT:45007003(Low blood pressure), UMLS:C0020649(C0020649), MedDRA:10003146(Arterial blood pressure decreased), NDFRT:N0000001649(Hypotension [Disease/Finding]), MONDO:MONDO:0005468(hypotensive disorder) +PA444588 Hypothermia Body temperature below normal, Decreased body temperature, Hypothermias, State of hypothermia, Temperature subnormal MeSH:D007035(Hypothermia), SnoMedCT:386689009(Hypothermia), UMLS:C0020672(C0020672), MedDRA:10005909(Body temperature decrease), NDFRT:N0000001653(Hypothermia [Disease/Finding]), HP:HP:0002045(Hypothermia) +PA444589 Hypothyroidism Hypothyroid, Hypothyroidism NOS, Hypothyroidisms MeSH:D007037(Hypothyroidism), SnoMedCT:267377003(Hypothyroidism NOS), SnoMedCT:40930008(Hypothyroidism), UMLS:C0020676(C0020676), MedDRA:10021114(Hypothyroidism), NDFRT:N0000001654(Hypothyroidism [Disease/Finding]), MONDO:MONDO:0005420(hypothyroidism), HP:HP:0000821(Hypothyroidism) +PA145007197 Hypotonia-Cystinuria Syndrome MeSH:C564710(Hypotonia-Cystinuria Syndrome), MedDRA:10083099(Hypotonia-Cystinuria Syndrome), MONDO:MONDO:0011669(hypotonia-cystinuria syndrome) +PA162370425 Hypouricemia """Hypouricemia, NOS"", ""Renal Hypouricemia""" SnoMedCT:4519003(Hypouricemia), UMLS:C0221333(C0221333), MedDRA:10021131(Hypouricaemia), HP:HP:0003537(Hypouricemia) +PA444591 Hypoventilation """Hypercapnic respiratory failure"", ""Hypoventilation, NOS"", ""Hypoventilations"", ""Respiratory depression"", ""Type 2 respiratory failure"", ""Ventilatory failure""" MeSH:D007040(Hypoventilation), SnoMedCT:15993004(Alveolar hypoventilation), SnoMedCT:31515003(Hypoventilation), UMLS:C0398353(C0398353), MedDRA:10001873(Alveolar aeration decreased), NDFRT:N0000001656(Hypoventilation [Disease/Finding]), HP:HP:0002791(Hypoventilation) +PA446277 Ichthyosis Vulgaris """Congenital bullous ichthyosiform erythroderma"", ""Dominant Ichthyosis Vulgaris"", ""Ichthyosis Vulgaris, Dominant"", ""Ichthyosis vulgaris""" MeSH:D016112(Ichthyosis Vulgaris), SnoMedCT:20512000(Dominant congenital ichthyosiform erythroderma), SnoMedCT:254157005(Ichthyosis vulgaris), UMLS:C0079584(C0079584), MedDRA:10021204(Ichthyosis vulgaris), NDFRT:N0000003366(Ichthyosis Vulgaris [Disease/Finding]), MONDO:MONDO:0024304(ichthyosis vulgaris) +PA446440 IgA Deficiency """Deficiencies, IgA"", ""Deficiency, IgA"", ""IgA Deficiencies"", ""Immunoglobulin A deficiency"", ""Selective IgA immunodeficiency""" MeSH:D017098(IgA Deficiency), SnoMedCT:190979003(Selective immunoglobulin A deficiency), SnoMedCT:29260007(Immunoglobulin A deficiency), UMLS:C0162538(C0162538), MedDRA:10021260(IgA deficiency), NDFRT:N0000003531(IgA Deficiency [Disease/Finding]), MONDO:MONDO:0001341(selective IgA deficiency disease) +PA444597 Illusions """Auditory Illusion"", ""Auditory Illusions"", ""Autokinetic Effect"", ""Autokinetic Effects"", ""Autokinetic Illusion"", ""Autokinetic Illusions"", ""Effect, Autokinetic"", ""Effects, Autokinetic"", ""Illusion"", ""Illusion, Auditory"", ""Illusion, Autokinetic"", ""Illusion, Kinesthetic"", ""Illusion, NOS"", ""Illusion, Tactile"", ""Illusion, Visual"", ""Illusions, Auditory"", ""Illusions, Autokinetic"", ""Illusions, Kinesthetic"", ""Illusions, Tactile"", ""Illusions, Visual"", ""Kinesthetic Illusion"", ""Kinesthetic Illusions"", ""Tactile Illusion"", ""Tactile Illusions"", ""Visual Illusion"", ""Visual Illusions""" MeSH:D007088(Illusions), SnoMedCT:5152006(Illusions), UMLS:C0020903(C0020903), MedDRA:10021403(Illusion), NDFRT:N0000001663(Illusions [Disease/Finding]), HP:HP:5200205(Illusions) +PA444602 Immune System Disorder """Disease of immune system"", ""Disease of immune system, NOS"", ""Disease, Immunologic"", ""Disease, Immunological"", ""Diseases, Immunologic"", ""Diseases, Immunological"", ""Disorder of immune system"", ""Disorder of immune system, NOS"", ""Immunologic Disease"", ""Immunologic Diseases"", ""Immunological Disease"", ""Immunological Diseases""" MeSH:D007154(Immune System Diseases), SnoMedCT:41266007(Disorder of immune system), UMLS:C0021053(C0021053), MedDRA:10013229(Disorder immune system (NOS)), NDFRT:N0000001668(Immune System Diseases [Disease/Finding]), MONDO:MONDO:0005046(immune system disorder) +PA444601 Immunodeficiency Disease """Antibody Deficiency Syndrome"", ""Antibody Deficiency Syndromes"", ""Deficiency Syndrome, Antibody"", ""Deficiency Syndrome, Immunologic"", ""Deficiency Syndrome, Immunological"", ""Deficiency Syndromes, Antibody"", ""Deficiency Syndromes, Immunologic"", ""Deficiency Syndromes, Immunological"", ""Immunodeficiency"", ""Immunodeficiency disease"", ""Immunodeficiency disorder"", ""Immunologic Deficiency Syndrome"", ""Immunological Deficiency Syndrome"", ""Immunological Deficiency Syndromes"", ""Syndrome, Antibody Deficiency"", ""Syndrome, Immunologic Deficiency"", ""Syndrome, Immunological Deficiency"", ""Syndromes, Antibody Deficiency"", ""Syndromes, Immunologic Deficiency"", ""Syndromes, Immunological Deficiency""" MeSH:D007153(Immunologic Deficiency Syndromes), SnoMedCT:191005003(Unspecified immunity deficiency), SnoMedCT:234532001(Immunodeficiency disorder), UMLS:C0021051(C0021051), MedDRA:10061598(Immunodeficiency), NDFRT:N0000001667(Immunologic Deficiency Syndromes [Disease/Finding]), MONDO:MONDO:0003778(inborn error of immunity), MONDO:MONDO:0021094(immunodeficiency disease) +PA166180791 Immunoglobulin A vasculitis Henoch-Scholein purpura, IgA vasculitis, Schoenlein-Henoch purpura, henoch-schonlein purpura nephritis MedDRA:10069440(Henoch-Schonlein purpura nephritis), MONDO:MONDO:0019167(immunoglobulin A vasculitis) +PA165108533 Impetigo NOS MeSH:D007169(Impetigo), SnoMedCT:200710001(Impetigo NOS), UMLS:C0021099(C0021099), MedDRA:10021531(Impetigo), NDFRT:N0000001671(Impetigo [Disease/Finding]), MONDO:MONDO:0004592(impetigo) +PA166048750 Impotence, Vasculogenic """NDFRT:N0000003855(Impotence, Vasculogenic)"", ""MONDO:MONDO:0007013(vasculogenic impotence)""" +PA165108843 Impulse control disorder """MeSH:D007174(Disruptive, Impulse Control, and Conduct Disorders)"", ""SnoMedCT:192095006(Impulse control disorder, unspecified)"", ""UMLS:C0021122(C0021122)"", ""MedDRA:10021561(Impulse control disorder, unspecified)"", ""NDFRT:N0000001673(Impulse Control Disorders [Disease/Finding])"", ""MONDO:MONDO:0001162(impulse control disorder)""" +PA444607 Inappropriate ADH Syndrome """ADH Syndrome, Inappropriate"", ""Antidiuretic Hormone, Inappropriate Secretion"", ""Inappropriate Vasopressin Secretion Syndrome"", ""SIAD - Syndrome of inappropriate antidiuresis"", ""SIADH"", ""SIADH - Syndrome of inappropriate secretion of antidiuretic hormone"", ""Schwartz Bartter Syndrome"", ""Schwartz-Bartter Syndrome"", ""Schwarz-Bartter syndrome"", ""Syndrome of Inappropriate ADH (SIADH) Secretion"", ""Syndrome, Inappropriate ADH"", ""Syndrome, Schwartz-Bartter""" MeSH:D007177(Inappropriate ADH Syndrome), SnoMedCT:55004003(Syndrome of inappropriate vasopressin secretion), UMLS:C0021141(C0021141), MedDRA:10001270(ADH inappropriate), NDFRT:N0000001674(Inappropriate ADH Syndrome [Disease/Finding]), MONDO:MONDO:0006802(inappropriate ADH syndrome) +PA445476 Inborn disorder of purine or pyrimidine metabolism Purine Pyrimidine Metabolism, Inborn Errors """MeSH:D011686(Purine-Pyrimidine Metabolism, Inborn Errors)"", ""SnoMedCT:238006008(Disorder of purine and pyrimidine metabolism)"", ""UMLS:C0034139(C0034139)"", ""MedDRA:10037546(Purine and pyrimidine metabolism disorders)"", ""NDFRT:N0000002552(Purine-Pyrimidine Metabolism, Inborn Errors [Disease/Finding])"", ""MONDO:MONDO:0019254(inborn disorder of purine or pyrimidine metabolism)""" +PA166048746 Infant NDFRT:N0000010203(Infant) +PA166365841 infantile myofibromatosis IMS, infantile hemangiopericytoma, infantile myofibromatosis, multicentric myofibromatosis, myofibromatosis MONDO:MONDO:0016824(infantile myofibromatosis) +PA445700 Infantile Spasms """Attack, Lightning"", ""Attacks, Lightning"", ""Attacks, Salaam"", ""Cryptogenic Infantile Spasm"", ""Cryptogenic Infantile Spasms"", ""Cryptogenic West Syndrome"", ""Hypsarrhythmia"", ""Hypsarrhythmias"", ""Infantile Spasm"", ""Infantile Spasm, Cryptogenic"", ""Infantile Spasm, Symptomatic"", ""Infantile Spasms"", ""Infantile Spasms, Cryptogenic"", ""Infantile Spasms, Symptomatic"", ""Infantile spasms"", ""Infantile spasms - hypsarrythmia"", ""Infantile spasms NOS"", ""Jackknife Seizure"", ""Jackknife Seizures"", ""Lightning Attack"", ""Lightning Attacks"", ""Lightning spasms"", ""Nodding Spasm"", ""Nodding Spasms"", ""Salaam Attacks"", ""Salaam Seizures"", ""Salaam attack"", ""Salaam attacks"", ""Seizure, Jackknife"", ""Seizures, Jackknife"", ""Seizures, Salaam"", ""Spasm, Cryptogenic Infantile"", ""Spasm, Nodding"", ""Spasm, Symptomatic Infantile"", ""Spasms, Cryptogenic Infantile"", ""Spasms, Nodding"", ""Spasms, Symptomatic Infantile"", ""Spasmus Nutans"", ""Symptomatic Infantile Spasm"", ""Symptomatic Infantile Spasms"", ""Symptomatic West Syndrome"", ""Syndrome, Cryptogenic West"", ""Syndrome, Symptomatic West"", ""Syndrome, West"", ""West Syndrome"", ""West Syndrome, Cryptogenic"", ""West Syndrome, Symptomatic"", ""West's syndrome""" """MeSH:D013036(Spasms, Infantile)"", ""SnoMedCT:193016000(Infantile spasms NOS)"", ""SnoMedCT:28055006(West syndrome)"", ""UMLS:C0037769(C0037769)"", ""MedDRA:10021750(Infantile spasms)"", ""NDFRT:N0000002786(Spasms, Infantile [Disease/Finding])"", ""MONDO:MONDO:0018097(West syndrome)"", ""HP:HP:0012469(Infantile spasms)""" +PA165109072 Infection by Blastomyces dermatitidis MONDO:MONDO:0005672(blastomycosis) +PA165108775 Infection by Legionella pneumophilia MONDO:MONDO:0005824(Legionnaires' disease) +PA165108654 Infection by Trichuris trichiura Infection by Trichuris trichura MeSH:D014257(Trichuriasis), SnoMedCT:60570001(Infection by Trichuris trichiura), UMLS:C0040954(C0040954), MedDRA:10044630(Trichuriasis), NDFRT:N0000003014(Trichuriasis [Disease/Finding]), MONDO:MONDO:0005996(trichuriasis) +PA444614 Infectious disease Infection, Infections UMLS:C0021311(Infection), MedDRA:10021789(Infection), NDFRT:N0000001681(Infection [Disease/Finding]), MONDO:MONDO:0005550(infectious disease) +PA444617 Infertility disorder """Cannot achieve a pregnancy"", ""Infertility"", ""Infertility, NOS"", ""Sterility""" MeSH:D007246(Infertility), SnoMedCT:8619003(Infertile), UMLS:C0021359(C0021359), MedDRA:10021926(Infertility), NDFRT:N0000001684(Infertility [Disease/Finding]), MONDO:MONDO:0005047(infertility disorder), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA444618 Infertility, Female """Female Infertility"", ""Female Sterility"", ""Female infertility"", ""Female infertility NOS"", ""Female infertility, NOS"", ""Postpartum Sterility"", ""Sterility, Female"", ""Sterility, Postpartum""" """MeSH:D007247(Infertility, Female)"", ""SnoMedCT:198472001(Female infertility NOS)"", ""SnoMedCT:6738008(Female infertility)"", ""UMLS:C0021361(C0021361)"", ""MedDRA:10016398(Female infertility)"", ""NDFRT:N0000001685(Infertility, Female [Disease/Finding])"", ""MONDO:MONDO:0021124(female infertility)"", ""cpgxTags:pgkbTags:1452102240(Maternal Health)"", ""HP:HP:0008222(Female infertility)""" +PA444619 Infertility, Male """Male Infertility"", ""Male Sterility"", ""Male infertility"", ""Male infertility, NOS"", ""Sterility, Male""" """MeSH:D007248(Infertility, Male)"", ""SnoMedCT:198018002(Male infertility NOS)"", ""SnoMedCT:2904007(Male infertility)"", ""UMLS:C0021364(C0021364)"", ""MedDRA:10021929(Infertility male)"", ""NDFRT:N0000001686(Infertility, Male [Disease/Finding])"", ""MONDO:MONDO:0005372(male infertility)"", ""HP:HP:0003251(Male infertility)""" +PA444620 Inflammation """Inflammation, NOS"", ""Inflammations"", ""Inflammatory cell infiltration"", ""Inflammatory cell infiltration, NOS"", ""Inflammatory infiltration"", ""Inflammatory infiltration, NOS"", ""Inflammatory reaction"", ""Inflammatory reaction, NOS"", ""Leucocytic infiltrate"", ""Leucocytic infiltrate, NOS"", ""Leukocytic infiltrate"", ""Leukocytic infiltrate, NOS""" MeSH:D007249(Inflammation), SnoMedCT:23583003(Inflammation), SnoMedCT:257552002(Inflammation), UMLS:C0021368(C0021368), MedDRA:10061218(Inflammation), NDFRT:N0000001687(Inflammation [Disease/Finding]), MONDO:MONDO:0021166(inflammatory disease), HP:HP:0012649(Increased inflammatory response) +PA446116 Inflammatory Bowel Diseases """Bowel Disease, Inflammatory"", ""Bowel Diseases, Inflammatory"", ""Disease, Inflammatory Bowel"", ""Diseases, Inflammatory Bowel"", ""Inflammatory Bowel Disease"", ""Inflammatory bowel disease"", ""Inflammatory bowel disease, NOS""" MeSH:D015212(Inflammatory Bowel Diseases), SnoMedCT:24526004(Inflammatory bowel disease), UMLS:C0021390(C0021390), MedDRA:10021184(IBD), NDFRT:N0000003206(Inflammatory Bowel Diseases [Disease/Finding]), MONDO:MONDO:0005265(inflammatory bowel disease) +PA444621 Influenza """Flu"", ""Grippe"", ""Influenza"", ""Influenza NOS"", ""Influenza, Human"", ""Influenza, NOS"", ""Influenzas""" """MeSH:D007251(Influenza, Human)"", ""SnoMedCT:266353003(Influenza NOS)"", ""SnoMedCT:6142004(Influenza)"", ""UMLS:C0021400(C0021400)"", ""MedDRA:10016790(Flu)"", ""NDFRT:N0000171628(Influenza, Human [Disease/Finding])"", ""MONDO:MONDO:0005812(influenza)""" +PA166128190 infusion related reaction MedDRA:10051792(Infusion related reaction) +PA444408 Inherited Hemoglobinopathy """Haemoglobin disease, NOS"", ""Haemoglobin disorder"", ""Hemoglobinopathy""" MeSH:D006453(Hemoglobinopathies), SnoMedCT:80141007(Hemoglobinopathy), UMLS:C0019045(C0019045), MedDRA:10018902(Haemoglobinopathies), NDFRT:N0000001472(Hemoglobinopathies [Disease/Finding]), MONDO:MONDO:0019050(inherited hemoglobinopathy) +PA443334 Insensitivity to pain """Analgesia, Congenital"", ""Asymbolia"", ""Congenital Analgesia"", ""Congenital Indifference to Pain"", ""Congenital Pain Indifference"", ""Congenital Pain Indifferences"", ""Congenital Pain Insensitivity"", ""Congenital indifference to pain"", ""Congenital pain asymbolia"", ""Insensitivity, Congenital Pain"", ""Pain Indifference, Congenital""" """MeSH:D000699(Pain Insensitivity, Congenital)"", ""SnoMedCT:403605007(Congenital indifference to pain)"", ""UMLS:C0002768(C0002768)"", ""NDFRT:N0000000378(Pain Insensitivity, Congenital [Disease/Finding])"", ""MONDO:MONDO:0009459(channelopathy-associated congenital insensitivity to pain, autosomal recessive)""" +PA166123307 Insomnia Disorders of initiating and maintaining sleep, Insomnia Disorders, Sleep Initiation Dysfunction, Sleep initiation and maintenance disorder MeSH:D007319(Sleep Initiation and Maintenance Disorders), MedDRA:10022437(Insomnia), MONDO:MONDO:0013600(insomnia), HP:HP:0100785(Insomnia) +PA444626 Insulin Resistance """Drug resistance to insulin"", ""Insulin resistance"", ""Insulin resistance syndrome"", ""Resistance, Insulin""" MeSH:D007333(Insulin Resistance), SnoMedCT:48606007(Drug resistance to insulin), UMLS:C0021655(C0021655), MedDRA:10022489(Insulin resistance), NDFRT:N0000011131(Insulin Resistance [Disease/Finding]), HP:HP:0000855(Insulin resistance) +PA444929 Intellectual Disability """Deficiencies, Mental"", ""Deficiency, Mental"", ""Idiocy"", ""Mental Deficiencies"", ""Mental Deficiency"", ""Mental Retardation, Psychosocial"", ""Mental Retardations, Psychosocial"", ""Mental retardation NOS"", ""Mental retardation, NOS"", ""Psychosocial Mental Retardation"", ""Psychosocial Mental Retardations"", ""Retardation, Mental"", ""Retardation, Psychosocial Mental"", ""Retardations, Psychosocial Mental""" MeSH:D008607(Intellectual Disability), SnoMedCT:91138005(Mental retardation), UMLS:C0025362(C0025362), MedDRA:10067989(Intellectual disability), MONDO:MONDO:0001071(intellectual disability), HP:HP:0001249(Intellectual disability) +PA166159432 intelligence """Intelligence, function"", ""Intelligence, function (observable entity)""" SnoMedCT:22851009(Intelligence) +PA444628 Intermittent Claudication """Claudication, Intermittent"", ""Claudications, Intermittent"", ""IC - Intermittent claudication"", ""Intermittent Claudications"", ""Myasthenia angiosclerotica""" HP:HP:0004417(Intermittent claudication) +PA166160459 international normalized ratio variability (inr-var) +PA446512 Interstitial Lung Diseases """Disease, Interstitial Lung"", ""Diseases, Interstitial Lung"", ""ILD - Interstitial lung disease"", ""Interstitial Lung Disease"", ""Interstitial Lung Diseases"", ""Interstitial Pneumonia"", ""Interstitial Pneumonias"", ""Interstitial Pneumonitides"", ""Interstitial Pneumonitis"", ""Interstitial lung disease"", ""Lung Disease, Interstitial"", ""Pneumonia, Interstitial"", ""Pneumonias, Interstitial"", ""Pneumonitides, Interstitial"", ""Pneumonitis, Interstitial""" """MeSH:D017563(Lung Diseases, Interstitial)"", ""SnoMedCT:233703007(Interstitial lung disease)"", ""UMLS:C0206062(C0206062)"", ""MedDRA:10022611(Interstitial lung disease)"", ""NDFRT:N0000003603(Lung Diseases, Interstitial [Disease/Finding])"", ""MONDO:MONDO:0015925(interstitial lung disease)""" +PA444632 Intestinal Diseases """Disease of intestine"", ""Disease, Intestinal"", ""Diseases, Intestinal"", ""Disorder of intestine"", ""Enteropathy, NOS"", ""Intestinal Disease"", ""Intestinal disorders NOS""" MONDO:MONDO:0005020(intestinal disorder) +PA444635 Intestinal Neoplasm """Cancer of Intestines"", ""Cancer of the Intestines"", ""Cancer, Intestinal"", ""Cancer, Intestines"", ""Cancers, Intestinal"", ""Cancers, Intestines"", ""Intestinal Cancer"", ""Intestinal Cancers"", ""Intestinal Neoplasm"", ""Intestines Cancer"", ""Intestines Cancers"", ""Intestines Neoplasm"", ""Intestines Neoplasms"", ""Neoplasm of intestine"", ""Neoplasm, Intestinal"", ""Neoplasm, Intestines"", ""Neoplasms, Intestinal"", ""Neoplasms, Intestines"", ""Tumor of intestine"", ""Tumour of intestine""" MeSH:D007414(Intestinal Neoplasms), SnoMedCT:126769007(Neoplasm of intestinal tract), UMLS:C0021841(C0021841), NDFRT:N0000001701(Intestinal Neoplasms [Disease/Finding]), MONDO:MONDO:0005814(intestinal cancer), MONDO:MONDO:0021118(intestinal neoplasm) +PA444636 Intestinal Obstruction """Ileus"", ""Intestinal Obstructions"", ""Intestinal obstruction NOS"", ""Intestinal occlusion, NOS"", ""Obstruction, Intestinal"", ""Obstructions, Intestinal"", ""Volvulus""" MONDO:MONDO:0004565(intestinal obstruction), HP:HP:0005214(Intestinal obstruction) +PA165108551 Intestinal parasitism NOS """MeSH:D007411(Intestinal Diseases, Parasitic)"", ""SnoMedCT:187190008(Intestinal parasitism NOS)"", ""UMLS:C0021832(C0021832)"", ""MedDRA:10022693(Intestinal parasitism, unspecified)"", ""NDFRT:N0000001699(Intestinal Diseases, Parasitic [Disease/Finding])"", ""MONDO:MONDO:0024270(parasitic intestinal disorder)""" +PA444637 Intestinal Perforation """Intestinal Perforations"", ""Perforation, Intestinal"", ""Perforations, Intestinal""" MONDO:MONDO:0006807(intestinal perforation), HP:HP:0031368(Intestinal perforation) +PA444639 Intestinal Pseudo-Obstruction """Idiopathic Intestinal Pseudo-Obstruction"", ""Idiopathic Intestinal Pseudo-Obstructions"", ""Ileus, Paralytic"", ""Intestinal Pseudo Obstruction"", ""Intestinal Pseudo Obstruction, Idiopathic"", ""Intestinal Pseudo-Obstruction, Idiopathic"", ""Intestinal Pseudo-Obstructions"", ""Intestinal Pseudo-Obstructions, Idiopathic"", ""Intestinal Pseudoobstruction"", ""Intestinal Pseudoobstructions"", ""Myopathies, Visceral"", ""Myopathy, Visceral"", ""Paralytic Ileus"", ""Pseudo Obstruction, Intestinal"", ""Pseudo-Obstruction, Idiopathic Intestinal"", ""Pseudo-Obstruction, Intestinal"", ""Pseudo-Obstructions, Idiopathic Intestinal"", ""Pseudo-Obstructions, Intestinal"", ""Pseudo-obstruction of intestine"", ""Pseudoobstruction, Intestinal"", ""Pseudoobstructions, Intestinal"", ""Visceral Myopathies"", ""Visceral Myopathy""" MONDO:MONDO:0002803(intestinal pseudo-obstruction), HP:HP:0004389(Intestinal pseudo-obstruction) +PA443663 Intracranial Aneurysm """Aneurysm, Anterior Cerebral Artery"", ""Aneurysm, Anterior Communicating Artery"", ""Aneurysm, Basilar Artery"", ""Aneurysm, Berry"", ""Aneurysm, Brain"", ""Aneurysm, Cerebral"", ""Aneurysm, Giant Intracranial"", ""Aneurysm, Intracranial"", ""Aneurysm, Intracranial Mycotic"", ""Aneurysm, Middle Cerebral Artery"", ""Aneurysm, Posterior Cerebral Artery"", ""Aneurysm, Posterior Communicating Artery"", ""Aneurysm, Saccular"", ""Aneurysms, Basilar Artery"", ""Aneurysms, Berry"", ""Aneurysms, Brain"", ""Aneurysms, Cerebral"", ""Aneurysms, Giant Intracranial"", ""Aneurysms, Intracranial"", ""Aneurysms, Intracranial Mycotic"", ""Aneurysms, Saccular"", ""Anterior Cerebral Artery Aneurysm"", ""Anterior Communicating Artery Aneurysm"", ""Artery Aneurysm, Basilar"", ""Artery Aneurysms, Basilar"", ""Basilar Artery Aneurysm"", ""Basilar Artery Aneurysms"", ""Berry Aneurysm"", ""Berry Aneurysms"", ""Brain Aneurysm"", ""Brain Aneurysms"", ""Cerebral Aneurysm"", ""Cerebral Aneurysms"", ""Cerebral aneurysm"", ""Giant Intracranial Aneurysm"", ""Giant Intracranial Aneurysms"", ""Intracranial Aneurysm, Giant"", ""Intracranial Aneurysms"", ""Intracranial Aneurysms, Giant"", ""Intracranial Mycotic Aneurysm"", ""Intracranial Mycotic Aneurysms"", ""Intracranial aneurysm"", ""Middle Cerebral Artery Aneurysm"", ""Mycotic Aneurysm, Intracranial"", ""Mycotic Aneurysms, Intracranial"", ""Posterior Cerebral Artery Aneurysm"", ""Posterior Communicating Artery Aneurysm"", ""Saccular Aneurysm"", ""Saccular Aneurysms""" MeSH:D002532(Intracranial Aneurysm), SnoMedCT:128609009(Intracranial aneurysm), UMLS:C0007766(C0007766), MedDRA:10002337(Aneurysm intracranial), NDFRT:N0000000715(Intracranial Aneurysm [Disease/Finding]), MONDO:MONDO:0005291(brain aneurysm), MONDO:MONDO:0016483(intracranial berry aneurysm) +PA443665 Intracranial Arteriosclerosis """Arterioscleroses, Cerebral"", ""Arterioscleroses, Intracranial"", ""Arteriosclerosis, Cerebral"", ""Arteriosclerosis, Intracranial"", ""Atheroscleroses, Cerebral"", ""Atheroscleroses, Intracranial"", ""Atherosclerosis, Cerebral"", ""Atherosclerosis, Intracranial"", ""Cerebral Arterioscleroses"", ""Cerebral Arteriosclerosis"", ""Cerebral Atheroscleroses"", ""Cerebral Atherosclerosis"", ""Intracranial Arterioscleroses"", ""Intracranial Atheroscleroses"", ""Intracranial Atherosclerosis""" MONDO:MONDO:0001632(intracranial arteriosclerosis) +PA446997 Intracranial Hemorrhages """Brain Hemorrhage"", ""Brain Hemorrhages"", ""Hemorrhage, Brain"", ""Hemorrhage, Intracranial"", ""Hemorrhage, Posterior Fossa"", ""Hemorrhages, Brain"", ""Hemorrhages, Intracranial"", ""Hemorrhages, Posterior Fossa"", ""Intracranial Hemorrhage"", ""Intracranial haemorrhage"", ""Intracranial hemorrhage"", ""Intracranial hemorrhage NOS"", ""Intracranial hemorrhage, NOS"", ""Posterior Fossa Hemorrhage"", ""Posterior Fossa Hemorrhages""" MeSH:D020300(Intracranial Hemorrhages), SnoMedCT:1386000(Intracranial hemorrhage), SnoMedCT:195178005(Intracranial hemorrhage NOS), UMLS:C0151699(C0151699), MedDRA:10005121(Bleeding intracranial), NDFRT:N0000004102(Intracranial Hemorrhages [Disease/Finding]), MONDO:MONDO:0005049(obsolete intracranial hemorrhage) +PA446854 Intracranial Hypertension """Elevated ICP (Intracranial Pressure)"", ""Elevated Intracranial Pressure"", ""Hypertension, Intracranial"", ""ICP (Intracranial Pressure) Elevation"", ""ICP (Intracranial Pressure) Increase"", ""ICP, Elevated (Intracranial Pressure)"", ""Increased intracranial pressure"", ""Intracranial Pressure Increase"", ""Intracranial Pressure, Elevated"", ""Pressure Increase, Intracranial"", ""Pressure, Elevated Intracranial"", ""RIP - Raised intracranial pressure"", ""Raised intracranial pressure""" MeSH:D019586(Intracranial Hypertension), SnoMedCT:271719001(Raised intracranial pressure), UMLS:C0151740(C0151740), MedDRA:10011570(CSF pressure increased), NDFRT:N0000003945(Intracranial Hypertension [Disease/Finding]), MONDO:MONDO:0006810(intracranial hypertension) +PA446255 Iridocyclitis """Cyclitides, Heterochromic"", ""Cyclitis, Heterochromic"", ""Heterochromic Cyclitides"", ""Heterochromic Cyclitis"", ""Iridocyclitides"", ""Unspecified iridocyclitis""" MeSH:D015863(Iridocyclitis), SnoMedCT:267620006(Unspecified iridocyclitis), SnoMedCT:77971008(Iridocyclitis), UMLS:C0022073(C0022073), MedDRA:10022941(Iridocyclitis), NDFRT:N0000003344(Iridocyclitis [Disease/Finding]), MONDO:MONDO:0004773(iridocyclitis), HP:HP:0001094(Iridocyclitis) +PA166048811 Iritis NDFRT:N0000001710(Iritis), MONDO:MONDO:0006814(iritis), HP:HP:0001101(Iritis) +PA446769 Iron deficiency anemia """Anemia, Iron Deficiency"", ""Anemias, Iron Deficiency"", ""Anemias, Iron-Deficiency"", ""Asiderotic anemia"", ""IDA - Iron deficiency anaemia"", ""Iron Deficiency Anemia"", ""Iron Deficiency Anemias"", ""Iron deficiency anaemia NOS"", ""Iron-Deficiency Anemia"", ""Iron-Deficiency Anemias"", ""Sideropenic anaemia"", ""Unspecified iron deficiency anemia""" """MeSH:D018798(Anemia, Iron-Deficiency)"", ""SnoMedCT:191133000(Unspecified iron deficiency anemia)"", ""SnoMedCT:191137004(Iron deficiency anemia NOS)"", ""SnoMedCT:87522002(Iron deficiency anemia)"", ""UMLS:C0162316(C0162316)"", ""MedDRA:10002062(Anaemia iron deficiency)"", ""NDFRT:N0000003859(Anemia, Iron-Deficiency [Disease/Finding])"", ""MONDO:MONDO:0001356(iron deficiency anemia)"", ""HP:HP:0001891(Iron deficiency anemia)""" +PA446812 Iron Overload Overload, Iron MeSH:D019190(Iron Overload), SnoMedCT:60737008(Iron overload), UMLS:C0282193(C0282193), MedDRA:10022979(Iron excess), NDFRT:N0000003902(Iron Overload [Disease/Finding]), MONDO:MONDO:0800385(iron poisoning) +PA166048887 Irritable Bowel Syndrome NDFRT:N0000010242(Irritable Bowel Syndrome), MONDO:MONDO:0005052(irritable bowel syndrome) +PA444645 Ischemia """Ischemia, NOS"", ""Ischemias""" MeSH:D007511(Ischemia), SnoMedCT:52674009(Ischemia), UMLS:C0022116(C0022116), MedDRA:10061255(Ischaemia), NDFRT:N0000001711(Ischemia [Disease/Finding]), MONDO:MONDO:0005053(ischemic disease) +PA444648 Jaundice """Icterus"", ""Icterus [D]"", ""Icterus, NOS"", ""Jaundice, NOS"", ""Jaundiced"", ""[D]Icterus""" MeSH:D007565(Jaundice), SnoMedCT:18165001(Jaundice), SnoMedCT:274245007([D]Icterus), UMLS:C0022346(C0022346), MedDRA:10021207(Icterus), NDFRT:N0000001714(Jaundice [Disease/Finding]), HP:HP:0000952(Jaundice) +PA444649 Jaundice, Chronic Idiopathic """Black liver-jaundice syndrome"", ""Chronic Idiopathic Jaundice"", ""Chronic Idiopathic Jaundices"", ""DJS - Dubin-Johnson syndrome"", ""Dubin Johnson Syndrome"", ""Dubin-Johnson Syndrome"", ""Dubin-Sprinz syndrome"", ""Hyperbilirubinemia II"", ""Icterus-hepatic pigmentation syndrome"", ""Idiopathic Jaundice, Chronic"", ""Idiopathic Jaundices, Chronic"", ""Jaundices, Chronic Idiopathic"", ""Syndrome, Dubin-Johnson""" """MeSH:D007566(Jaundice, Chronic Idiopathic)"", ""SnoMedCT:44553005(Dubin-Johnson syndrome)"", ""UMLS:C0022350(C0022350)"", ""MedDRA:10013800(Dubin-Johnson syndrome)"", ""NDFRT:N0000001715(Jaundice, Chronic Idiopathic [Disease/Finding])"", ""MONDO:MONDO:0009380(Dubin-Johnson syndrome)""" +PA447183 Jervell-Lange Nielsen Syndrome """Cardio-auditory syndrome"", ""Jervell Lange Nielsen Syndrome"", ""Jervell and Lange Nielsen Syndrome"", ""Jervell and Lange-Nielsen Syndrome"", ""Nielsen Syndrome, Jervell-Lange"", ""Syndrome, Jervell-Lange Nielsen""" MeSH:D029593(Jervell-Lange Nielsen Syndrome), SnoMedCT:373905003(Jervell and Lange-Nielson syndrome), UMLS:C0022387(C0022387), MedDRA:10057936(Jervell and Lange-Nielsen syndrome), NDFRT:N0000011078(Jervell-Lange Nielsen Syndrome [Disease/Finding]), MONDO:MONDO:0002441(Jervell and Lange-Nielsen syndrome) +PA444660 Job's Syndrome """Hyper IgE Syndrome"", ""Hyper-IgE Syndrome"", ""Hyper-IgE Syndromes"", ""Hyperimmunoglobulin E Recurrent Infection Syndrome"", ""Hyperimmunoglobulin E syndrome"", ""Hyperimmunoglobulin E-Recurrent Infection Syndrome"", ""Job Syndrome"", ""Job-Buckley syndrome"", ""Jobs Syndrome"", ""Syndrome, Hyper-IgE"", ""Syndrome, Job's""" """MeSH:D007589(Job Syndrome)"", ""SnoMedCT:50926003(Hyperimmunoglobulin E syndrome)"", ""UMLS:C0022398(C0022398)"", ""MedDRA:10051063(Buckley's syndrome)"", ""NDFRT:N0000001726(Job's Syndrome [Disease/Finding])"", ""MONDO:MONDO:0007818(hyper-IgE recurrent infection syndrome 1, autosomal dominant)""" +PA444661 Joint Diseases """Arthropathies NOS"", ""Arthropathy NOS"", ""Arthropathy NOS, of unspecified site"", ""Arthrosis"", ""Disease, Joint"", ""Diseases, Joint"", ""Disorder of joint"", ""Joint Disease"", ""Joint disease"", ""Joint disorder"", ""Joint disorders NOS""" """MeSH:D007592(Joint Diseases)"", ""SnoMedCT:202061005(Arthropathy NOS, of unspecified site)"", ""SnoMedCT:202634006(Joint disorders NOS)"", ""SnoMedCT:202635007(Joint disorder NOS, of unspecified site)"", ""SnoMedCT:202647001(Arthropathies NOS)"", ""SnoMedCT:267904003(Arthropathy NOS)"", ""SnoMedCT:399269003(Arthropathy)"", ""UMLS:C0022408(C0022408)"", ""MedDRA:10003285(Arthropathy)"", ""NDFRT:N0000001727(Joint Diseases [Disease/Finding])"", ""MONDO:MONDO:0006816(arthropathy)""" +PA152407979 Joubert Syndrome Familial aplasia of the vermis, Joubert Syndrome, Joubert syndrome SnoMedCT:253175003(Familial aplasia of the vermis), UMLS:C0431399(C0431399), MONDO:MONDO:0018772(Joubert syndrome) +PA165108227 Juvenile myelomonocytic leukemia JCML - Juvenile chronic myeloid leukaemia, JCML - Juvenile chronic myeloid leukemia, Juvenile chronic myeloid leukemia """MeSH:D054429(Leukemia, Myelomonocytic, Juvenile)"", ""SnoMedCT:277587001(Juvenile chronic myeloid leukaemia)"", ""UMLS:C0349639(C0349639)"", ""MedDRA:10023248(Juvenile chronic myeloid leukaemia)"", ""NDFRT:N0000181135(Leukemia, Myelomonocytic, Juvenile [Disease/Finding])"", ""MONDO:MONDO:0011908(juvenile myelomonocytic leukemia)"", ""HP:HP:0012209(Juvenile myelomonocytic leukemia)""" +PA152238047 Juvenile Polyposis of Infancy Juvenile polyposis syndrome MeSH:C537702(Juvenile polyposis syndrome), MONDO:MONDO:0019190(juvenile polyposis of infancy) +PA443433 Juvenile Rheumatoid Arthritis """Arthritides, Juvenile Chronic"", ""Arthritides, Juvenile Rheumatoid"", ""Arthritis, Juvenile Chronic"", ""Chronic Arthritides, Juvenile"", ""Chronic Arthritis, Juvenile"", ""JCA - Juvenile chronic arthritis"", ""JRA - Juvenile rheumatoid arthritis"", ""Juvenile Chronic Arthritides"", ""Juvenile Chronic Arthritis"", ""Juvenile Onset Still Disease"", ""Juvenile Onset Stills Disease"", ""Juvenile Rheumatoid Arthritides"", ""Juvenile Rheumatoid Arthritis"", ""Juvenile arthritis"", ""Juvenile chronic arthritis, polyarticular seropositive"", ""Juvenile idiopathic arthritis"", ""Juvenile idiopathic arthritis, polyarthritis, rheumatoid factor positive"", ""Juvenile rheumatoid arthritis"", ""Juvenile rheumatoid arthritis, seropositive"", ""Juvenile seropositive arthritis"", ""Juvenile seropositive polyarthritis"", ""Juvenile-Onset Still Disease"", ""Juvenile-Onset Still's Disease"", ""Juvenile-Onset Stills Disease"", ""Rheumatoid Arthritides, Juvenile"", ""Rheumatoid Arthritis, Juvenile"", ""Still Disease, Juvenile Onset"", ""Still Disease, Juvenile-Onset"", ""Still's Disease, Juvenile Onset"", ""Still's Disease, Juvenile-Onset"", ""Stills Disease, Juvenile-Onset""" """MeSH:D001171(Arthritis, Juvenile)"", ""SnoMedCT:201800005(Juvenile rheumatoid arthritis NOS)"", ""SnoMedCT:239796000(Juvenile chronic arthritis)"", ""SnoMedCT:410502007(Juvenile idiopathic arthritis)"", ""SnoMedCT:410795001(Juvenile rheumatoid arthritis)"", ""SnoMedCT:410796000(Juvenile seropositive polyarthritis)"", ""UMLS:C0553662(C0553662)"", ""MedDRA:10059177(Juvenile arthritis)"", ""NDFRT:N0000000481(Arthritis, Juvenile Rheumatoid [Disease/Finding])"", ""MONDO:MONDO:0011429(juvenile idiopathic arthritis)"", ""MONDO:MONDO:0023249(polyarticular juvenile rheumatoid arthritis)"", ""HP:HP:0005681(Juvenile rheumatoid arthritis)""" +PA446481 Kallmann Syndrome """Hypogonadism with anosmia"", ""Kallmann's Syndrome"", ""Kallmanns Syndrome"", ""Syndrome, Kallmann"", ""Syndrome, Kallmann's""" MeSH:D017436(Kallmann Syndrome), SnoMedCT:93559003(Hypogonadism with anosmia), UMLS:C0162809(C0162809), MedDRA:10053146(de Morsier's syndrome), NDFRT:N0000003572(Kallmann Syndrome [Disease/Finding]), MONDO:MONDO:0018800(Kallmann syndrome) +PA166334701 kbg syndrome MedDRA:10084411(KBG syndrome), MONDO:MONDO:0007846(KBG syndrome) +PA444668 Keratitis Keratitides, Keratitis NOS MONDO:MONDO:0003085(keratitis), HP:HP:0000491(Keratitis) +PA166048759 Keratoconjunctivitis, Infectious """NDFRT:N0000001739(Keratoconjunctivitis, Infectious)"", ""MONDO:MONDO:0025431(keratoconjunctivitis, infectious)""" +PA165109099 Keratoconus MeSH:D007640(Keratoconus), SnoMedCT:193846003(Keratoconus NOS), UMLS:C0022578(C0022578), MedDRA:10023353(Keratoconus), NDFRT:N0000001740(Keratoconus [Disease/Finding]), MONDO:MONDO:0015486(keratoconus), HP:HP:0000563(Keratoconus) +PA444675 Keratosis """Blennorrhagica, Keratosis"", ""Blennorrhagicas, Keratosis"", ""Blennorrhagicum, Keratoderma"", ""Blennorrhagicums, Keratoderma"", ""Keratoderma Blennorrhagicum"", ""Keratoderma Blennorrhagicums"", ""Keratoma"", ""Keratomas"", ""Keratoses"", ""Keratosis Blennorrhagica"", ""Keratosis Blennorrhagicas""" MeSH:D007642(Keratosis), SnoMedCT:254666005(Keratosis), UMLS:C0022593(C0022593), MedDRA:10023368(Keratosis), NDFRT:N0000001741(Keratosis [Disease/Finding]), MONDO:MONDO:0006566(keratosis) +PA444682 Kidney Disorder """Disease, Kidney"", ""Diseases, Kidney"", ""Kidney Disease"", ""Kidney disease, NOS"", ""Nephrosis, NOS"", ""Renal DIseases"", ""Renal disease"", ""renal impairment""" MeSH:D007674(Kidney Diseases), SnoMedCT:274108006(Kidney disease NOS), SnoMedCT:90708001(Kidney disease), UMLS:C0022658(C0022658), MedDRA:10013231(Disorder kidney), NDFRT:N0000001748(Kidney Diseases [Disease/Finding]), MONDO:MONDO:0005240(kidney disorder) +PA446438 Kidney Failure """Failure, Kidney"", ""Failure, Renal"", ""Failures, Kidney"", ""Failures, Renal"", ""Insufficiencies, Kidney"", ""Insufficiencies, Renal"", ""Insufficiency, Kidney"", ""Insufficiency, Renal"", ""Kidney Failures"", ""Kidney Insufficiencies"", ""Kidney Insufficiency"", ""Renal Failure"", ""Renal Failures"", ""Renal Insufficiencies"", ""Renal Insufficiency"", ""Renal failure syndrome"", ""Renal failure syndrome, NOS"", ""Renal failure unspecified"", ""Renal insufficiency syndrome"", ""Renal insufficiency syndrome, NOS""" MeSH:D051437(Renal Insufficiency), SnoMedCT:266553002(Renal failure unspecified), SnoMedCT:42399005(Renal failure syndrome), UMLS:C0035078(C0035078), MedDRA:10016149(Failure kidney), NDFRT:N0000003529(Kidney Failure [Disease/Finding]), MONDO:MONDO:0001106(kidney failure) +PA444685 Kidney Neoplasms """Cancer of Kidney"", ""Cancer of the Kidney"", ""Cancer, Kidney"", ""Cancer, Renal"", ""Cancers, Kidney"", ""Cancers, Renal"", ""Kidney Cancer"", ""Kidney Cancers"", ""Kidney Neoplasm"", ""Neoplasm of kidney"", ""Neoplasm, Kidney"", ""Neoplasm, Renal"", ""Neoplasms, Kidney"", ""Neoplasms, Renal"", ""Renal Cancer"", ""Renal Cancers"", ""Renal Neoplasm"", ""Renal Neoplasms"", ""Renal tumor"", ""Tumour of kidney""" MeSH:D007680(Kidney Neoplasms), SnoMedCT:126880001(Neoplasm of kidney), UMLS:C0022665(C0022665), MedDRA:10028979(Neoplasia renal), NDFRT:N0000001751(Kidney Neoplasms [Disease/Finding]), MONDO:MONDO:0002367(kidney cancer), MONDO:MONDO:0021163(kidney neoplasm) +PA165817016 Kidney Transplantation """Kidney Grafting"", ""Kidney Transplantations"", ""Renal Transplantations"", ""Transplantations, Kidney"", ""Transplantations, Renal"", ""Tx - Kidney transplantation""" MeSH:D016030(Kidney Transplantation), SnoMedCT:70536003(Transplant of kidney), UMLS:C0022671(C0022671), MedDRA:10023438(Kidney transplant) +PA166048813 Kidney Tubular Necrosis, Acute """NDFRT:N0000001753(Kidney Tubular Necrosis, Acute)"", ""MONDO:MONDO:0006637(acute kidney tubular necrosis)""" +PA166129555 King-Denborough syndrome Anesthetic-induced malignant hyperpyrexia in children, King Denborough Syndrome, King syndrome, King-Denborough Syndrome MeSH:C536883(King Denborough syndrome), SnoMedCT:764957003(King Denborough syndrome), MONDO:MONDO:0020485(King-Denborough syndrome) +PA166048723 Klebsiella Infections NDFRT:N0000001758(Klebsiella Infections), MONDO:MONDO:0030603(Klebsiella infectious disease) +PA444693 Klinefelter Syndrome """Klinefelter Syndromes"", ""Klinefelter syndrome"", ""Klinefelter's Syndrome"", ""Klinefelter's syndrome"", ""Klinefelter's syndrome karyotype 47 XXY"", ""Klinefelters Syndrome"", ""Syndrome, Klinefelter"", ""Syndrome, Klinefelter's"", ""Syndromes, Klinefelter"", ""XXY syndrome""" """MeSH:D007713(Klinefelter Syndrome)"", ""SnoMedCT:205701007(Klinefelter's syndrome NOS)"", ""SnoMedCT:405769009(Klinefelter's syndrome, XXY)"", ""UMLS:C0022735(C0022735)"", ""MedDRA:10023463(Klinefelter's syndrome)"", ""NDFRT:N0000001759(Klinefelter Syndrome [Disease/Finding])"", ""MONDO:MONDO:0006823(Klinefelter syndrome)"", ""MONDO:MONDO:0019929(49,XXXXY syndrome)""" +PA444694 Klippel-Feil Syndrome """Bonnevie-Ullrich and Klippel-Feil syndrome"", ""Congenital dystrophia brevicollis"", ""Dystrophia Brevicollis Congenita"", ""Dystrophia Brevicollis Congenitas"", ""KFS - Klippel-Feil syndrome"", ""Klippel Feil Syndrome"", ""Klippel-Feil sequence"", ""Klippel-Feil syndrome"", ""Klippel-Feil syndrome NOS"", ""Nielsen's disease"", ""Syndrome, Klippel-Feil""" MeSH:D007714(Klippel-Feil Syndrome), SnoMedCT:205441002(Klippel-Feil syndrome NOS), SnoMedCT:388981000(Congenital dystrophia brevicollis), SnoMedCT:5601008(Klippel-Feil sequence), UMLS:C0022738(C0022738), MedDRA:10023464(Klippel-Feil syndrome), NDFRT:N0000001760(Klippel-Feil Syndrome [Disease/Finding]), MONDO:MONDO:0001029(Klippel-Feil syndrome) +PA444699 Kuru """Encephalopathy, Kuru"", ""Kuru Encephalopathy""" MeSH:D007729(Kuru), SnoMedCT:86188000(Kuru), UMLS:C0022802(C0022802), MedDRA:10023497(Kuru), NDFRT:N0000001765(Kuru [Disease/Finding]), MONDO:MONDO:0006825(kuru) +PA444702 Kyphosis Gibbosity, Gibbus, Humpback, Kyphoses, Kyphosis deformity of spine MeSH:D007738(Kyphosis), SnoMedCT:414564002(Kyphosis deformity of spine), UMLS:C0022821(C0022821), MedDRA:10023509(Kyphosis), NDFRT:N0000001768(Kyphosis [Disease/Finding]), HP:HP:0002808(Kyphosis) +PA166048751 Lactation breast feeding NDFRT:N0000010216(Lactation) +PA443243 Lactic Acidosis Lactic Acidosis """MeSH:D000140(Acidosis, Lactic)"", ""SnoMedCT:91273001(Lactic acidosis)"", ""UMLS:C0001125(C0001125)"", ""MedDRA:10000491(Acidosis lactic)"", ""NDFRT:N0000000284(Acidosis, Lactic [Disease/Finding])"", ""MONDO:MONDO:0006040(lactic acidosis)"", ""MONDO:MONDO:0024306(acquired lactic acidosis)"", ""HP:HP:0003128(Lactic acidosis)""" +PA444711 Lactose Intolerance """Cow's milk enteropathy"", ""Intolerance, Lactose"", ""LM - Lactose malabsorption"", ""Lactose Malabsorption"", ""Lactose intolerance"", ""Lactose malabsorption"", ""Malabsorption, Lactose""" MeSH:D007787(Lactose Intolerance), SnoMedCT:267425008(Lactose intolerance), UMLS:C0022951(C0022951), MedDRA:10023681(Lactose intolerance), NDFRT:N0000001777(Lactose Intolerance [Disease/Finding]), MONDO:MONDO:0100345(lactose intolerance), HP:HP:0004789(Lactose intolerance) +PA446494 Lamellar Ichthyosis """Collodion baby"", ""Congenital Nonbullous Ichthyosiform Erythroderma"", ""Congenital ichthyosis"", ""Congenital non bullous ichthyosiform erythroderma"", ""Erythroderma Ichthyosiforme, Nonbullous"", ""Fetus, Harlequin"", ""Harlequin Fetus"", ""Harlequin Ichthyoses"", ""Harlequin Ichthyosis"", ""Ichthyoses, Harlequin"", ""Ichthyoses, Lamellar"", ""Ichthyosiform Erythroderma, Nonbullous Congenital"", ""Ichthyosis, Harlequin"", ""Lamellar Ichthyoses"", ""Lamellar Ichthyosis"", ""Lamellar ichthyosis"", ""Nonbullous Congenital Ichthyosiform Erythroderma"", ""Nonbullous Erythroderma Ichthyosiforme""" """MeSH:D017490(Ichthyosis, Lamellar)"", ""SnoMedCT:205550003(Lamellar ichthyosis)"", ""SnoMedCT:267372009(Congenital non bullous ichthyosiform erythroderma)"", ""UMLS:C0079154(C0079154)"", ""MedDRA:10009926(Collodion baby)"", ""NDFRT:N0000003585(Ichthyosis, Lamellar [Disease/Finding])"", ""MONDO:MONDO:0009441(autosomal recessive congenital ichthyosis 1)"", ""MONDO:MONDO:0017778(lamellar ichthyosis)"", ""MONDO:MONDO:0019306(congenital non-bullous ichthyosiform erythroderma)""" +PA444714 Language Disorders """Acquired Language Disorder"", ""Acquired Language Disorders"", ""Disorder of language"", ""Language Disorder"", ""Language Disorder, Acquired"", ""Language Disorders, Acquired""" MeSH:D007806(Language Disorders), SnoMedCT:62305002(Disorder of language), UMLS:C0023015(C0023015), NDFRT:N0000001779(Language Disorders [Disease/Finding]), MONDO:MONDO:0004750(language disorder) +PA166169562 Laparoscopic sleeve gastrectomy Laparoscopic sleeve gastrectomy (procedure) MeSH:D005743(Gastrectomy), SnoMedCT:427074001(Laparoscopic sleeve gastrectomy), MedDRA:10070978(sleeve gastrectomy) +PA166339021 Large for gestational age MedDRA:10023790(Large for gestational age), HP:HP:0001520(Large for gestational age) +PA162373094 Larsen Syndrome Larsen syndrome SnoMedCT:63387002(Larsen syndrome), UMLS:C0175778(C0175778), MONDO:MONDO:0007875(Larsen syndrome) +PA444719 Laryngeal Neoplasms """Cancer of Larynx"", ""Cancer of the Larynx"", ""Cancer, Laryngeal"", ""Cancer, Larynx"", ""Cancers, Laryngeal"", ""Cancers, Larynx"", ""Laryngeal Cancer"", ""Laryngeal Cancers"", ""Laryngeal Neoplasm"", ""Larynx Cancer"", ""Larynx Cancers"", ""Larynx Neoplasm"", ""Larynx Neoplasms"", ""Neoplasm of larynx"", ""Neoplasm, Laryngeal"", ""Neoplasm, Larynx"", ""Neoplasms, Laryngeal"", ""Neoplasms, Larynx"", ""Tumor of larynx"", ""Tumour of larynx""" MeSH:D007822(Laryngeal Neoplasms), SnoMedCT:126692004(Neoplasm of larynx), UMLS:C0023055(C0023055), MedDRA:10023840(Laryngeal neoplasia), NDFRT:N0000001784(Laryngeal Neoplasms [Disease/Finding]), MONDO:MONDO:0021071(laryngeal neoplasm) +PA166048908 Laryngitis NDFRT:N0000001786(Laryngitis), MONDO:MONDO:0002647(laryngitis) +PA165108152 Lassa fever MONDO:MONDO:0005820(Lassa fever) +PA165108441 Lead compound causing toxic effect NOS MeSH:D007855(Lead Poisoning), SnoMedCT:212842003(Lead compound causing toxic effect NOS), UMLS:C0023176(C0023176), MedDRA:10024083(Lead poisoning), NDFRT:N0000001791(Lead Poisoning [Disease/Finding]), MONDO:MONDO:0018019(lead poisoning) +PA166048926 Lead Poisoning NDFRT:N0000004085(Lead Poisoning, Nervous System, Childhood) +PA444727 Learning Disorders """Academic Disorder, Developmental"", ""Academic Disorders, Developmental"", ""Adult Learning Disorder"", ""Adult Learning Disorders"", ""Developmental Academic Disorder"", ""Developmental Academic Disorders"", ""Developmental Disorders of Scholastic Skills"", ""Disabilities, Learning"", ""Disability, Learning"", ""Disturbance, Learning"", ""Disturbances, Learning"", ""Learning Disabilities"", ""Learning Disability"", ""Learning Disorder"", ""Learning Disorder, Adult"", ""Learning Disorders, Adult"", ""Learning Disturbance"", ""Learning Disturbances"", ""Scholastic Skills Development Disorders""" MeSH:D007859(Learning Disabilities), UMLS:C0023186(Learning disorders), MedDRA:10024094(Learning disorders), NDFRT:N0000001792(Learning Disorders [Disease/Finding]), MONDO:MONDO:0004681(learning disability) +PA152407984 Leber's amaurosis Congenital retinal blindness, Leber Congenital Amaurosis (LCA) SnoMedCT:193413001(Leber's amaurosis), UMLS:C0339527(C0339527), NDFRT:N0000181128(Leber Congenital Amaurosis [Disease/Finding]), MONDO:MONDO:0018998(Leber congenital amaurosis) +PA446737 Left Ventricular Dysfunction """Dysfunction, Left Ventricular"", ""Dysfunctions, Left Ventricular"", ""Left Ventricular Dysfunction"", ""Left Ventricular Dysfunctions"", ""Ventricular Dysfunctions, Left""" """MeSH:D018487(Ventricular Dysfunction, Left)"", ""UMLS:C0242698(Ventricular Dysfunction, Left [Disease/Finding])"", ""NDFRT:N0000003826(Ventricular Dysfunction, Left [Disease/Finding])"", ""HP:HP:0005162(Abnormal left ventricular function)""" +PA444736 Leigh Disease """Disease, Leigh's"", ""Encephalomyelitides, Subacute Necrotizing"", ""Encephalomyelitis, Subacute Necrotizing"", ""Encephalomyelopathies, Subacute Necrotizing"", ""Encephalomyelopathy, Subacute Necrotizing"", ""Encephalopathies, Subacute Necrotizing"", ""Encephalopathy, Subacute Necrotizing"", ""Encephalopathy, Subacute Necrotizing, Infantile"", ""Encephalopathy, Subacute Necrotizing, Juvenile"", ""Infantile Leigh Disease"", ""Infantile Subacute Necrotizing Encephalopathy"", ""Infantile necrotising encephalomyelopathy"", ""Infantile necrotizing encephalomyelopathy"", ""Juvenile Leigh Disease"", ""Juvenile Subacute Necrotizing Encephalopathy"", ""Leigh Disease, Infantile"", ""Leigh Disease, Juvenile"", ""Leigh Syndrome"", ""Leigh syndrome"", ""Leigh's Disease"", ""Leigh's disease"", ""Leighs Disease"", ""Necrotizing Encephalomyelitides, Subacute"", ""Necrotizing Encephalomyelitis, Subacute"", ""Necrotizing Encephalomyelopathies, Subacute"", ""Necrotizing Encephalomyelopathy, Subacute"", ""Necrotizing Encephalopathies, Subacute"", ""Necrotizing Encephalopathy, Subacute"", ""SNEM - Subacute necrotising encephalomyelopathy"", ""Subacute Necrotizing Encephalomyelitides"", ""Subacute Necrotizing Encephalomyelitis"", ""Subacute Necrotizing Encephalomyelitis, Infantile"", ""Subacute Necrotizing Encephalomyelopathies"", ""Subacute Necrotizing Encephalomyelopathy"", ""Subacute Necrotizing Encephalopathies"", ""Subacute Necrotizing Encephalopathy"", ""Subacute Necrotizing Encephalopathy, Infantile"", ""Subacute Necrotizing Encephalopathy, Juvenile"", ""Subacute necrotising encephalopathy"", ""Subacute necrotizing encephalomyelopathy"", ""Subacute necrotizing encephalopathy""" MeSH:D007888(Leigh Disease), SnoMedCT:29570005(Leigh's disease), UMLS:C0023264(C0023264), MedDRA:10062950(Leigh syndrome), NDFRT:N0000001801(Leigh Disease [Disease/Finding]), MONDO:MONDO:0009723(Leigh syndrome) +PA444737 Leiomyoma """Fibroid"", ""Fibroid Tumor"", ""Fibroid Tumors"", ""Fibroid Uterus"", ""Fibroid, Uterine"", ""Fibroids"", ""Fibroids, Uterine"", ""Fibroma, Uterine"", ""Fibromas, Uterine"", ""Fibromyoma"", ""Fibromyomas"", ""Leiomyomas"", ""Myofibroma"", ""Myofibromas"", ""Tumor, Fibroid"", ""Tumors, Fibroid"", ""Uterine Fibroid"", ""Uterine Fibroids"", ""Uterine Fibroma"", ""Uterine Fibromas"", ""Uterus, Fibroid""" MeSH:D007889(Leiomyoma), UMLS:C0023267(Leiomyoma), MedDRA:10024184(Leiomyoma), NDFRT:N0000001802(Leiomyoma [Disease/Finding]), MONDO:MONDO:0001572(leiomyoma) +PA444738 Leiomyosarcoma """Epithelioid Leiomyosarcoma"", ""Epithelioid Leiomyosarcomas"", ""Leiomyosarcoma, Epithelioid"", ""Leiomyosarcoma, Myxoid"", ""Leiomyosarcomas"", ""Leiomyosarcomas, Epithelioid"", ""Leiomyosarcomas, Myxoid"", ""Myxoid Leiomyosarcoma"", ""Myxoid Leiomyosarcomas""" """MeSH:D007890(Leiomyosarcoma)"", ""SnoMedCT:51549004(Leiomyosarcoma, no subtype)"", ""UMLS:C0023269(C0023269)"", ""MedDRA:10024189(Leiomyosarcoma)"", ""NDFRT:N0000001803(Leiomyosarcoma [Disease/Finding])"", ""MONDO:MONDO:0005058(leiomyosarcoma)"", ""HP:HP:0100243(Leiomyosarcoma)""" +PA444739 Leishmaniasis Leishmaniases, Leishmaniasis NOS, Leishmaniosis MeSH:D007896(Leishmaniasis), SnoMedCT:186811002(Leishmaniasis NOS), SnoMedCT:80612004(Leishmaniasis), UMLS:C0023281(C0023281), MedDRA:10057168(Leishmania infections), NDFRT:N0000001804(Leishmaniasis [Disease/Finding]), MONDO:MONDO:0011989(leishmaniasis) +PA444741 Leishmaniasis, Visceral """Burdwan fever"", ""Dum Dum fever"", ""Dum-dum fever"", ""Kala Azar"", ""Kala-Azar"", ""Kala-Azars"", ""Kala-azar"", ""Leishmaniases, Visceral"", ""Mard el bicha"", ""Mediterranean leishmaniasis"", ""VL - Visceral leishmaniasis"", ""Visceral Leishmaniases"", ""Visceral Leishmaniasis"", ""Visceral leishmaniasis""" MONDO:MONDO:0005445(visceral leishmaniasis) +PA166170362 Lennox-Gastaut syndrome """Gastaut Syndrome, Lennox"", ""Gastaut Syndromes, Lennox"", ""Lennox Gastaut Syndromes"", ""Syndrome, Lennox Gastaut"", ""Syndromes, Lennox Gastaut""" MeSH:D065768(Lennox Gastaut Syndrome), SnoMedCT:230418006(Lennox-Gastaut syndrome), MedDRA:10048816(Lennox-Gastaut syndrome), MONDO:MONDO:0016532(Lennox-Gastaut syndrome) +PA444742 Lens Diseases """Disease, Lens"", ""Diseases, Lens"", ""Disorder of lens, NOS"", ""Lens Disease""" MeSH:D007905(Lens Diseases), SnoMedCT:10810001(Disorder of lens), UMLS:C0023308(C0023308), MedDRA:10061219(Lens disorder), NDFRT:N0000001807(Lens Diseases [Disease/Finding]), MONDO:MONDO:0001176(lens disorder) +PA444745 Leprosy """Disease, Hansen"", ""Disease, Hansen's"", ""Hansen Disease"", ""Hansen's Disease"", ""Hansen's disease"", ""Hansens Disease"", ""Infection due to Mycobacterium leprae"", ""Leprosies"", ""Leprosy NOS"", ""Leprosy, NOS""" MeSH:D007918(Leprosy), SnoMedCT:186339006(Leprosy NOS), SnoMedCT:81004002(Leprosy), UMLS:C0023343(C0023343), MedDRA:10019138(Hansen's disease), NDFRT:N0000001810(Leprosy [Disease/Finding]), MONDO:MONDO:0005124(leprosy) +PA446152 Leprosy, Lepromatous """Cutaneous Leprosies"", ""Cutaneous Leprosy"", ""Full lepromatous leprosy"", ""LL - Full lepromatous leprosy"", ""Lepromatous Leprosies"", ""Lepromatous Leprosy"", ""Lepromatous leprosy"", ""Leprosies, Cutaneous"", ""Leprosies, Lepromatous"", ""Leprosies, Nodular"", ""Leprosy, Cutaneous"", ""Leprosy, Nodular"", ""Nodular Leprosies"", ""Nodular Leprosy"", ""Type LL leprosy""" """MeSH:D015440(Leprosy, Lepromatous)"", ""SnoMedCT:21560005(Lepromatous leprosy)"", ""UMLS:C0023348(C0023348)"", ""MedDRA:10024227(Lepromatous leprosy)"", ""NDFRT:N0000003242(Leprosy, Lepromatous [Disease/Finding])"", ""MONDO:MONDO:0005127(lepromatous leprosy)""" +PA446153 Leprosy, Tuberculoid """Leprosies, Macular"", ""Leprosies, Neural"", ""Leprosies, Tuberculoid"", ""Leprosy, Macular"", ""Leprosy, Neural"", ""Macular Leprosies"", ""Macular Leprosy"", ""Neural Leprosies"", ""Neural Leprosy"", ""Nodular leprosy"", ""Tuberculoid Leprosies"", ""Tuberculoid Leprosy"", ""Tuberculoid leprosy""" """MeSH:D015441(Leprosy, Tuberculoid)"", ""SnoMedCT:70143003(Tuberculoid leprosy)"", ""UMLS:C0023351(C0023351)"", ""MedDRA:10028450(Mycobacterium leprae infection (tuberculoid))"", ""NDFRT:N0000003243(Leprosy, Tuberculoid [Disease/Finding])"", ""MONDO:MONDO:0005126(tuberculoid leprosy)""" +PA444748 Lesch-Nyhan Syndrome """Choreoathetosis Self Mutilation Hyperuricemia Syndrome"", ""Choreoathetosis Self-Mutilation Hyperuricemia Syndrome"", ""Choreoathetosis self-mutilation syndrome"", ""Complete HGPRT Deficiency Disease"", ""Complete HGPRT deficiency"", ""Complete hypoxanthine-guanine phosphoribosyltransferase deficiency"", ""Deficiency Disease, Complete HGPRT"", ""Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase"", ""Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase"", ""Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase"", ""Deficiency of IMP pyrophosphorylase"", ""Deficiency of guanine phosphoribosyltransferase"", ""Deficiency of hypoxanthine phosphoribosyltransferase"", ""Deficiency of hypoxanthine-guanine phosphoribosyltransferase"", ""Disease, Hypoxanthine-Phosphoribosyl-Transferase Deficiency"", ""Disease, Lesch-Nyhan"", ""Diseases, Hypoxanthine-Phosphoribosyl-Transferase Deficiency"", ""HGPRT Deficiency Disease, Complete"", ""HGPRT deficiency"", ""Hypoxanthine Phosphoribosyl Transferase Deficiency Disease"", ""Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease"", ""Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases"", ""Hypoxanthine-guanine phosphoribosyltransferase deficiency"", ""Lesch Nyhan Disease"", ""Lesch Nyhan Syndrome"", ""Lesch-Nyhan Disease"", ""Lesch-Nyhan disease"", ""Lesch-Nyhan syndrome"", ""Total HGPRT deficiency"", ""X-linked hyperuricaemia"", ""X-linked hyperuricemia""" MeSH:D007926(Lesch-Nyhan Syndrome), SnoMedCT:10406007(Lesch-Nyhan syndrome), SnoMedCT:124275001(Deficiency of hypoxanthine phosphoribosyltransferase), UMLS:C0023374(C0023374), MedDRA:10024245(Lesch-Nyhan syndrome), NDFRT:N0000001813(Lesch-Nyhan Syndrome [Disease/Finding]), MONDO:MONDO:0010298(Lesch-Nyhan syndrome) +PA152545809 Lethal Congenital Contractual Syndrome Type 2 MONDO:MONDO:0011868(lethal congenital contracture syndrome 2) +PA152545810 Lethal Congenital Contractual Syndrome Type 3 MONDO:MONDO:0012656(lethal congenital contracture syndrome 3) +PA444750 Leukemia """Aleukemic leukemia [obs]"", ""Leukaemia"", ""Leukaemia NOS"", ""Leukaemia, NOS"", ""Leukaemia, no ICD-O subtype"", ""Leukemia NOS"", ""Leukemia, NOS"", ""Leukemia, NOS, without mention of remission"", ""Leukemias""" MeSH:D007938(Leukemia), SnoMedCT:188762002(Leukemia of unspecified cell type), SnoMedCT:188767008(Leukemia NOS), SnoMedCT:87163000(Leukaemia), SnoMedCT:93143009(Leukemia), UMLS:C0023418(C0023418), MedDRA:10024288(Leukaemia), NDFRT:N0000001815(Leukemia [Disease/Finding]), MONDO:MONDO:0005059(leukemia), HP:HP:0001909(Leukemia) +PA166048910 Leukemia, Basophilic, Acute """NDFRT:N0000003268(Leukemia, Basophilic, Acute)"", ""MONDO:MONDO:0019458(acute basophilic leukemia)""" +PA446179 Leukemia, Eosinophilic, Acute """Acute Eosinophilic Leukemia"", ""Acute Eosinophilic Leukemias"", ""Acute eosinophilic leukemia"", ""Eosinophilic Leukemia, Acute"", ""Eosinophilic Leukemias, Acute"", ""Leukemia, Acute Eosinophilic"", ""Leukemias, Acute Eosinophilic""" """MeSH:D015472(Leukemia, Eosinophilic, Acute)"", ""SnoMedCT:277604002(Acute eosinophilic leukemia)"", ""UMLS:C0023439(C0023439)"", ""NDFRT:N0000003269(Leukemia, Eosinophilic, Acute [Disease/Finding])"", ""MONDO:MONDO:0043881(obsolete acute eosinophilic leukemia)""" +PA444755 Leukemia, Hairy Cell """HCL - Hairy cell leukaemia"", ""Hairy Cell Leukemia"", ""Hairy Cell Leukemias"", ""Hairy cell leukaemia"", ""Hairy cell leukaemia (clinical)"", ""Hairy cell leukemia"", ""LRE - Leukaemic reticuloendotheliosis"", ""LRE - Leukemic reticuloendotheliosis"", ""Leukaemic reticuloendotheliosis"", ""Leukaemic reticuloendotheliosis (clinical) [obs]"", ""Leukaemic reticuloendotheliosis NOS"", ""Leukemias, Hairy Cell"", ""Leukemic Reticuloendothelioses"", ""Leukemic Reticuloendotheliosis"", ""Leukemic reticuloendotheliosis"", ""Leukemic reticuloendotheliosis (clinical) [obs]"", ""Leukemic reticuloendotheliosis of unspecified sites"", ""Reticuloendothelioses, Leukemic"", ""Reticuloendotheliosis, Leukemic"", ""[M]Hairy cell leukemia""" """MeSH:D007943(Leukemia, Hairy Cell)"", ""SnoMedCT:118613001(Hairy cell leukaemia (clinical))"", ""SnoMedCT:188644003(Leukemic reticuloendotheliosis of unspecified sites)"", ""SnoMedCT:188653005(Leukemic reticuloendotheliosis NOS)"", ""SnoMedCT:54087003(Hairy cell leukemia)"", ""UMLS:C0023443(C0023443)"", ""MedDRA:10019053(Hairy cell leukaemia)"", ""NDFRT:N0000001820(Leukemia, Hairy Cell [Disease/Finding])"", ""MONDO:MONDO:0018935(hairy cell leukemia)""" +PA446169 Leukemia, Lymphocytic, Chronic, B-Cell """B Cell Leukemia, Chronic"", ""B Lymphocytic Leukemia, Chronic"", ""B-CLL - B-cell chronic lymphocytic leukaemia"", ""B-CLL - B-cell chronic lymphocytic leukemia"", ""B-Cell Leukemia, Chronic"", ""B-Cell Leukemias, Chronic"", ""B-Lymphocytic Leukemia, Chronic"", ""B-Lymphocytic Leukemias, Chronic"", ""B-cell chronic lymphocytic leukaemia"", ""B-cell chronic lymphocytic leukemia"", ""CLL - Chronic lymphocytic leukaemia"", ""Chronic B-Cell Leukemia"", ""Chronic B-Cell Leukemias"", ""Chronic B-Lymphocytic Leukemia"", ""Chronic B-Lymphocytic Leukemias"", ""Chronic Lymphoblastic Leukemia"", ""Chronic Lymphoblastic Leukemias"", ""Chronic Lymphocytic Leukemia"", ""Chronic Lymphocytic Leukemias"", ""Chronic lymphoid leukemia without mention of remission"", ""Chronic lymphoid leukemia, disease"", ""Leukemia, B Cell, Chronic"", ""Leukemia, B-Cell, Chronic"", ""Leukemia, Chronic B-Cell"", ""Leukemia, Chronic B-Lymphocytic"", ""Leukemia, Chronic Lymphoblastic"", ""Leukemia, Chronic Lymphocytic"", ""Leukemia, Lymphoblastic, Chronic"", ""Leukemia, Lymphocytic, Chronic"", ""Leukemia, Lymphocytic, Chronic, B Cell"", ""Leukemia, Lymphocytic, Chronic, B-Cell"", ""Leukemias, Chronic B-Cell"", ""Leukemias, Chronic B-Lymphocytic"", ""Leukemias, Chronic Lymphoblastic"", ""Leukemias, Chronic Lymphocytic"", ""Lymphoblastic Leukemia, Chronic"", ""Lymphoblastic Leukemias, Chronic"", ""Lymphocytic Leukemia, Chronic"", ""Lymphocytic Leukemia, Chronic, B Cell"", ""Lymphocytic Leukemia, Chronic, B-Cell"", ""Lymphocytic Leukemias, Chronic"", ""Lymphocytic Lymphoma"", ""Lymphocytic Lymphomas"", ""Lymphoma, Lymphocytic"", ""Lymphoma, Lymphocytic, Plasmacytoid"", ""Lymphoma, Small Cell"", ""Lymphoma, Small-Cell"", ""Lymphomas, Lymphocytic"", ""Lymphomas, Small-Cell"", ""Small Cell Lymphoma"", ""Small-Cell Lymphoma"", ""Small-Cell Lymphomas""" """MeSH:D015451(Leukemia, Lymphocytic, Chronic, B-Cell)"", ""SnoMedCT:277473004(B-cell chronic lymphocytic leukaemia)"", ""SnoMedCT:51092000(B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma)"", ""SnoMedCT:92814006(Chronic lymphoid leukemia, disease)"", ""UMLS:C0023434(C0023434)"", ""MedDRA:10008956(Chronic lymphatic leukaemia)"", ""NDFRT:N0000003248(Leukemia, Lymphocytic, Chronic, B-Cell [Disease/Finding])"", ""MONDO:MONDO:0004948(B-cell chronic lymphocytic leukemia)""" +PA446167 Leukemia-Lymphoma, Adult T-Cell """ATLL"", ""ATLLs"", ""Adult T-Cell Leukemia"", ""Adult T-Cell Leukemia-Lymphoma"", ""Adult T-Cell Leukemia-Lymphomas"", ""Adult T-Cell Leukemias"", ""Adult T-cell leukaemia"", ""Adult T-cell leukaemia/lymphoma"", ""Adult T-cell leukaemia/lymphoma (clinical)"", ""Adult T-cell leukemia"", ""Adult T-cell leukemia/lymphoma"", ""Adult T-cell lymphoma/leukemia"", ""HTLV Associated Leukemia Lymphoma"", ""HTLV I Associated T Cell Leukemia Lymphoma"", ""HTLV-Associated Leukemia-Lymphoma"", ""HTLV-Associated Leukemia-Lymphomas"", ""HTLV-I-Associated T-Cell Leukemia-Lymphoma"", ""HTLV-I-Associated T-Cell Leukemia-Lymphomas"", ""Human T Cell Leukemia Lymphoma"", ""Human T Lymphotropic Virus Associated Leukemia Lymphoma"", ""Human T Lymphotropic Virus-Associated Leukemia-Lymphoma"", ""Human T-Cell Leukemia-Lymphoma"", ""Human T-Cell Leukemia-Lymphomas"", ""Leukemia Lymphoma, Adult T Cell"", ""Leukemia Lymphoma, T Cell, Acute, HTLV I Associated"", ""Leukemia, Adult T Cell"", ""Leukemia, Adult T-Cell"", ""Leukemia-Lymphoma, Adult T-Cell"", ""Leukemia-Lymphoma, HTLV-Associated"", ""Leukemia-Lymphoma, HTLV-I-Associated T-Cell"", ""Leukemia-Lymphoma, Human T-Cell"", ""Leukemia-Lymphoma, T-Cell, Acute, HTLV-I-Associated"", ""Leukemia-Lymphomas, Adult T-Cell"", ""Leukemia-Lymphomas, HTLV-Associated"", ""Leukemia-Lymphomas, HTLV-I-Associated T-Cell"", ""Leukemia-Lymphomas, Human T-Cell"", ""Leukemias, Adult T-Cell"", ""T Cell Leukemia Lymphoma, Adult"", ""T Cell Leukemia Lymphoma, HTLV I Associated"", ""T Cell Leukemia, Adult"", ""T-Cell Leukemia, Adult"", ""T-Cell Leukemia-Lymphoma, Adult"", ""T-Cell Leukemia-Lymphoma, HTLV-I-Associated"", ""T-Cell Leukemia-Lymphoma, Human"", ""T-Cell Leukemia-Lymphomas, Adult"", ""T-Cell Leukemia-Lymphomas, HTLV-I-Associated"", ""T-Cell Leukemia-Lymphomas, Human"", ""T-Cell Leukemias, Adult"", ""[M]Adult T-cell leukaemia/lymphoma"", ""[M]Adult T-cell leukemia/lymphoma""" """MeSH:D015459(Leukemia-Lymphoma, Adult T-Cell)"", ""SnoMedCT:110007008(Adult T-cell leukemia/lymphoma)"", ""SnoMedCT:188729005(Adult T-cell leukemia)"", ""SnoMedCT:77430005(Adult T-cell leukemia/lymphoma)"", ""UMLS:C0023493(C0023493)"", ""MedDRA:10001412(Adult T-cell leukemia-lymphoma)"", ""NDFRT:N0000003256(Leukemia-Lymphoma, Adult T-Cell [Disease/Finding])"", ""MONDO:MONDO:0019471(adult T-cell leukemia/lymphoma)""" +PA444758 Leukemia, Megakaryoblastic, Acute """Acute Megakaryoblastic Leukemia"", ""Acute Megakaryoblastic Leukemias"", ""Acute Megakaryocytic Leukemia"", ""Acute Megakaryocytic Leukemias"", ""Acute megakaryoblastic leukaemia"", ""Acute megakaryoblastic leukaemia, FAB M7"", ""Acute megakaryoblastic leukemia"", ""Acute megakaryoblastic leukemia, FAB M7"", ""Acute megakaryoblastic leukemia, morphology"", ""FAB M7"", ""Leukemia, Acute Megakaryoblastic"", ""Leukemia, Acute Megakaryocytic"", ""Leukemia, Megakaryoblastic, Acute"", ""Leukemia, Megakaryocytic"", ""Leukemia, Megakaryocytic, Acute"", ""Leukemia, Myeloid, Acute, M7"", ""Leukemias, Acute Megakaryoblastic"", ""Leukemias, Acute Megakaryocytic"", ""Leukemias, Megakaryocytic"", ""M7 - Acute megakaryoblastic leukemia"", ""Malignant megakaryocytosis"", ""Megakaryoblastic Leukemia, Acute"", ""Megakaryoblastic Leukemias, Acute"", ""Megakaryoblastic leukaemia"", ""Megakaryoblastic leukemia"", ""Megakaryocytic Leukemia"", ""Megakaryocytic Leukemia, Acute"", ""Megakaryocytic Leukemias"", ""Megakaryocytic Leukemias, Acute"", ""Megakaryocytic leukaemia"", ""Megakaryocytic leukemia"", ""Megakaryocytic myelosis"", ""Myeloid Leukemia, Acute, M7"", ""Thrombocytic leukaemia""" """MeSH:D007947(Leukemia, Megakaryoblastic, Acute)"", ""SnoMedCT:188754005(Megakaryocytic leukaemia)"", ""SnoMedCT:277602003(Acute megakaryoblastic leukaemia)"", ""SnoMedCT:52220008(Acute megakaryoblastic leukemia)"", ""UMLS:C0023462(C0023462)"", ""MedDRA:10000859(Acute megakaryoblastic leukaemia)"", ""NDFRT:N0000001823(Leukemia, Megakaryoblastic, Acute [Disease/Finding])"", ""MONDO:MONDO:0018872(acute megakaryoblastic leukemia)""" +PA444759 Leukemia, Monocytic, Acute """Acute Monoblastic Leukemia"", ""Acute Monoblastic Leukemias"", ""Acute Monocytic Leukemia"", ""Acute Monocytic Leukemias"", ""Acute monoblastic leukaemia"", ""Acute monoblastic leukemia"", ""Acute monocytic leukaemia"", ""Acute monocytic leukemia, morphology"", ""Acute monocytoid leukemia"", ""Leukemia, Acute Monoblastic"", ""Leukemia, Acute Monocytic"", ""Leukemia, Monoblastic, Acute"", ""Leukemia, Myeloid, Acute, M5"", ""Leukemia, Myeloid, Schilling Type"", ""Leukemia, Myeloid, Schilling-Type"", ""Leukemia, Schilling-Type Myeloid"", ""Leukemias, Acute Monoblastic"", ""Leukemias, Acute Monocytic"", ""M5a - Acute monoblastic leukaemia"", ""M5a - Acute monoblastic leukemia"", ""Monoblastic Leukemia, Acute"", ""Monoblastic Leukemias, Acute"", ""Monoblastic leukemia"", ""Monoblastic leukemia, NOS"", ""Monocytic Leukemia, Acute"", ""Monocytic Leukemias, Acute"", ""Myeloid Leukemia, Acute, M5"", ""Myeloid Leukemia, Schilling Type"", ""Myeloid Leukemia, Schilling-Type"", ""Naegeli-type monocytic leukaemia"", ""Naegeli-type monocytic leukemia"", ""Schilling-Type Myeloid Leukemia""" """MeSH:D007948(Leukemia, Monocytic, Acute)"", ""SnoMedCT:22331004(Acute monocytic leukaemia)"", ""SnoMedCT:277601005(Acute monoblastic leukaemia)"", ""UMLS:C0023465(C0023465)"", ""MedDRA:10059439(Acute monoblastic leukaemia)"", ""NDFRT:N0000001824(Leukemia, Monocytic, Acute [Disease/Finding])"", ""MONDO:MONDO:0007896(acute monocytic leukemia)"", ""HP:HP:0004845(Acute monocytic leukemia)""" +PA444761 Leukemia, Myeloid """Aleukaemic granulocytic leukaemia [obs]"", ""Aleukaemic monocytic leukaemia [obs]"", ""Aleukaemic myelogenous leukaemia [obs]"", ""Aleukaemic myeloid leukaemia [obs]"", ""Aleukemic granulocytic leukemia [obs]"", ""Aleukemic monocytic leukemia [obs]"", ""Aleukemic myelogenous leukemia [obs]"", ""Atypical chronic myeloid leukaemia, BCR/ABL negative"", ""Atypical chronic myeloid leukemia, BCR/ABL negative"", ""Atypical chronic myeloid leukemia, Philadelphia chromosome (Ph1) negative"", ""Chronic Monocytic Leukemia"", ""Chronic Monocytic Leukemias"", ""Chronic monocytic leukaemia [obs]"", ""Chronic monocytic leukemia [obs]"", ""Eosinophilic leukaemia"", ""Eosinophilic leukemia"", ""Granulocytic Leukemia"", ""Granulocytic Leukemias"", ""Granulocytic leukaemia"", ""Granulocytic leukemia"", ""Granulocytic leukemia, NOS"", ""Leukemia, Chronic Monocytic"", ""Leukemia, Granulocytic"", ""Leukemia, Monocytic, Chronic"", ""Leukemia, Myelocytic"", ""Leukemia, Myelogenous"", ""Leukemia, Myeloid"", ""Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative"", ""Leukemias, Chronic Monocytic"", ""Leukemias, Granulocytic"", ""Leukemias, Myelocytic"", ""Leukemias, Myelogenous"", ""Leukemias, Myeloid"", ""Monocytic Leukemia, Chronic"", ""Monocytic Leukemias, Chronic"", ""Monocytic leukaemia"", ""Monocytic leukemia"", ""Myelocytic Leukemia"", ""Myelocytic Leukemias"", ""Myelocytic leukaemia"", ""Myelocytic leukemia"", ""Myelocytic leukemia, NOS"", ""Myelogenous Leukemia"", ""Myelogenous Leukemias"", ""Myelogenous leukaemia"", ""Myelogenous leukemia"", ""Myelogenous leukemia, NOS"", ""Myeloid Leukemia"", ""Myeloid Leukemias"", ""Myeloid leukaemia"", ""Myeloid leukaemia (category)"", ""Myeloid leukaemia - category"", ""Myeloid leukaemia NOS"", ""Myeloid leukaemia, NOS"", ""Myeloid leukemia"", ""Myeloid leukemia (category)"", ""Myeloid leukemia - category"", ""Myeloid leukemia NOS"", ""Myeloid leukemia, NOS"", ""Myelomonocytic leukaemia"", ""Myelomonocytic leukemia, NOS"", ""Subacute granulocytic leukaemia [obs]"", ""Subacute granulocytic leukemia [obs]"", ""Subacute monocytic leukemia [obs]"", ""Subacute myelogenous leukaemia [obs]"", ""Subacute myelogenous leukemia [obs]"", ""Subacute myeloid leukaemia [obs]"", ""Subacute myeloid leukemia [obs]"", ""[M]Myeloid leukaemia NOS"", ""[M]Myeloid leukemia NOS""" """MeSH:D007951(Leukemia, Myeloid)"", ""SnoMedCT:128934006(Myeloid leukaemia (category))"", ""SnoMedCT:188732008(Myeloid leukemia)"", ""SnoMedCT:188743000(Myeloid leukemia NOS)"", ""SnoMedCT:37810007(Myeloid leukemia)"", ""UMLS:C0023470(C0023470)"", ""MedDRA:10024299(Leukaemia granulocytic)"", ""NDFRT:N0000001826(Leukemia, Myeloid [Disease/Finding])"", ""MONDO:MONDO:0004643(myeloid leukemia)"", ""HP:HP:0012324(Myeloid leukemia)""" +PA444760 Leukemia, Myeloid, Acute """AML - Acute myeloblastic leukaemia"", ""Acute Myeloblastic Leukemia"", ""Acute Myeloblastic Leukemias"", ""Acute Myelocytic Leukemia"", ""Acute Myelocytic Leukemias"", ""Acute Myelogenous Leukemia"", ""Acute Myelogenous Leukemias"", ""Acute granulocytic leukaemia"", ""Acute myeloblastic leukemia"", ""Acute myeloid leukaemia"", ""Acute myeloid leukaemia - category"", ""Acute myeloid leukaemia, disease"", ""Acute myeloid leukemia"", ""Acute myeloid leukemia - category"", ""Acute myeloid leukemia, disease"", ""Acute non-lymphocytic leukaemia"", ""Acute non-lymphocytic leukemia"", ""Leukemia, Acute Myeloblastic"", ""Leukemia, Acute Myelocytic"", ""Leukemia, Acute Myelogenous"", ""Leukemia, Myeloblastic, Acute"", ""Leukemia, Myelocytic, Acute"", ""Leukemia, Myelogenous, Acute"", ""Leukemia, Myeloid, Acute"", ""Leukemia, Myeloid, Acute, M1"", ""Leukemia, Myeloid, Acute, M2"", ""Leukemias, Acute Myeloblastic"", ""Leukemias, Acute Myelocytic"", ""Leukemias, Acute Myelogenous"", ""Myeloblastic Leukemia, Acute"", ""Myeloblastic Leukemias, Acute"", ""Myelocytic Leukemia, Acute"", ""Myelocytic Leukemias, Acute"", ""Myelogenous Leukemia, Acute"", ""Myelogenous Leukemias, Acute"", ""Myeloid Leukemia, Acute, M1"", ""Myeloid Leukemia, Acute, M2""" """MeSH:D015470(Leukemia, Myeloid, Acute)"", ""SnoMedCT:17788007(Acute myeloid leukemia)"", ""SnoMedCT:413443009(Acute myeloid leukemia)"", ""SnoMedCT:91861009(Acute myeloid leukaemia, disease)"", ""UMLS:C0023467(C0023467)"", ""MedDRA:10000801(Acute granulocytic leukaemia)"", ""NDFRT:N0000003267(Leukemia, Myeloid, Acute [Disease/Finding])"", ""MONDO:MONDO:0018874(acute myeloid leukemia)"", ""HP:HP:0004808(Acute myeloid leukemia)""" +PA446183 Leukemia, Myelomonocytic, Acute """Acute Myelomonocytic Leukemia"", ""Acute Myelomonocytic Leukemias"", ""Acute myelomonocytic leukaemia (clinical)"", ""Acute myelomonocytic leukemia (clinical)"", ""Acute myelomonocytic leukemia, FAB M4"", ""Leukemia, Acute Myelomonocytic"", ""Leukemia, Myeloid, Acute, M4"", ""Leukemia, Myeloid, Naegeli-Type"", ""Leukemia, Naegeli-Type Myeloid"", ""Leukemias, Acute Myelomonocytic"", ""Myeloid Leukemia, Acute, M4"", ""Myeloid Leukemia, Naegeli Type"", ""Myeloid Leukemia, Naegeli-Type"", ""Myelomonocytic Leukemia, Acute"", ""Myelomonocytic Leukemias, Acute"", ""Naegeli-Type Myeloid Leukemia"", ""[M]Acute myelomonocytic leukaemia""" """MeSH:D015479(Leukemia, Myelomonocytic, Acute)"", ""SnoMedCT:110005000(Acute myelomonocytic leukemia, FAB M4)"", ""SnoMedCT:30962008(Acute myelomonocytic leukemia)"", ""UMLS:C0023479(C0023479)"", ""MedDRA:10000890(Acute myelomonocytic leukaemia)"", ""NDFRT:N0000003273(Leukemia, Myelomonocytic, Acute [Disease/Finding])"", ""MONDO:MONDO:0018871(acute myelomonocytic leukemia M4)"", ""HP:HP:0004820(Acute myelomonocytic leukemia)""" +PA446177 Leukemia, Nonlymphocytic, Acute """ANLL"", ""Acute Nonlymphoblastic Leukemia"", ""Acute Nonlymphoblastic Leukemias"", ""Acute Nonlymphocytic Leukemia"", ""Acute Nonlymphocytic Leukemias"", ""Leukemia, Acute Nonlymphoblastic"", ""Leukemia, Acute Nonlymphocytic"", ""Leukemia, Nonlymphoblastic, Acute"", ""Leukemias, Acute Nonlymphoblastic"", ""Leukemias, Acute Nonlymphocytic"", ""Nonlymphoblastic Leukemia, Acute"", ""Nonlymphoblastic Leukemias, Acute"", ""Nonlymphocytic Leukemia, Acute"", ""Nonlymphocytic Leukemias, Acute""" """UMLS:C0023467(C0023467)"", ""NDFRT:N0000003267(Leukemia, Myeloid, Acute [Disease/Finding])"", ""MONDO:MONDO:0018874(acute myeloid leukemia)""" +PA446180 Leukemia, Promyelocytic, Acute """APL - Acute promyelocytic leukaemia"", ""APL - Acute promyelocytic leukemia"", ""APML - Acute promyelocytic leukaemia"", ""APML - Acute promyelocytic leukemia"", ""Acute Promyelocytic Leukemia"", ""Acute Promyelocytic Leukemias"", ""Acute myeloid leukaemia, PML/RAR-alpha"", ""Acute myeloid leukemia, PML/RAR-alpha"", ""Acute myeloid leukemia, t(15;17)(q22;q11-12)"", ""Acute promyelocytic leukaemia (clinical)"", ""Acute promyelocytic leukaemia, FAB M3"", ""Acute promyelocytic leukaemia, PML/RAR-alpha"", ""Acute promyelocytic leukaemia, t(15;17)(q22;q11-12)"", ""Acute promyelocytic leukemia"", ""Acute promyelocytic leukemia (clinical)"", ""Acute promyelocytic leukemia, FAB M3"", ""FAB M3"", ""Leukemia, Acute Promyelocytic"", ""Leukemia, Myeloid, Acute, M3"", ""Leukemia, Progranulocytic"", ""Leukemias, Acute Promyelocytic"", ""Leukemias, Progranulocytic"", ""M3 - Acute promyelocytic leukemia"", ""Myeloid Leukemia, Acute, M3"", ""Progranulocytic Leukemia"", ""Progranulocytic Leukemias"", ""Promyelocytic Leukemia, Acute"", ""Promyelocytic Leukemias, Acute"", ""[M]Acute promyelocytic leukaemia"", ""[M]Acute promyelocytic leukemia""" """MeSH:D015473(Leukemia, Promyelocytic, Acute)"", ""SnoMedCT:110004001(Acute promyelocytic leukemia, FAB M3)"", ""SnoMedCT:28950004(Acute promyelocytic leukemia)"", ""UMLS:C0023487(C0023487)"", ""MedDRA:10001019(Acute promyelocytic leukaemia)"", ""NDFRT:N0000003270(Leukemia, Promyelocytic, Acute [Disease/Finding])"", ""MONDO:MONDO:0012883(acute promyelocytic leukemia)"", ""HP:HP:0004836(Acute promyelocytic leukemia)""" +PA446165 Leukemia, T-Cell """Leukemia, Lymphocytic, T Cell"", ""Leukemia, Lymphocytic, T-Cell"", ""Leukemia, Prolymphocytic, T-Cell"", ""Leukemia, T Cell"", ""Leukemia, T Lymphocytic"", ""Leukemia, T-Cell"", ""Leukemia, T-Cell Lymphocytic"", ""Leukemia, T-Lymphocytic"", ""Leukemias, T Lymphocytic"", ""Leukemias, T-Cell"", ""Leukemias, T-Cell Lymphocytic"", ""Leukemias, T-Lymphocytic"", ""Lymphocytic Leukemia, T"", ""Lymphocytic Leukemia, T Cell"", ""Lymphocytic Leukemia, T-Cell"", ""Lymphocytic Leukemias, T"", ""Lymphocytic Leukemias, T-Cell"", ""Prolymphocytic leukaemia, T-cell type"", ""Prolymphocytic leukemia, T-cell type"", ""T Cell Leukemia"", ""T Lymphocytic Leukemia"", ""T Lymphocytic Leukemias"", ""T-Cell Leukemia"", ""T-Cell Leukemias"", ""T-Cell Lymphocytic Leukemia"", ""T-Cell Lymphocytic Leukemias"", ""T-Lymphocytic Leukemia"", ""T-Lymphocytic Leukemias"", ""T-cell prolymphocytic leukaemia"", ""T-cell prolymphocytic leukemia""" """MeSH:D015458(Leukemia, T-Cell)"", ""UMLS:C0023492(Leukemia, T-Cell [Disease/Finding])"", ""NDFRT:N0000003255(Leukemia, T-Cell [Disease/Finding])"", ""MONDO:MONDO:0005525(T-cell leukemia)""" +PA444767 Leukocytosis """Increased blood leucocyte number"", ""Increased blood leukocyte number"", ""Leucocytosis"", ""Leucocytosis, NOS"", ""Leukocytoses"", ""Leukocytosis, NOS"", ""Pleocytoses"", ""Pleocytosis""" MeSH:D007964(Leukocytosis), SnoMedCT:111583006(Leucocytosis), SnoMedCT:414478003(Leukocytosis), UMLS:C0023518(C0023518), MedDRA:10024279(Leucocytosis NOS), NDFRT:N0000001832(Leukocytosis [Disease/Finding]), HP:HP:0001974(Leukocytosis) +PA444771 Leukoencephalopathy, Progressive Multifocal """Encephalitis, JC Polyomavirus"", ""Encephalopathies, JC Polyomavirus"", ""Encephalopathy, JC Polyomavirus"", ""JC Polyomavirus Encephalitis"", ""JC Polyomavirus Encephalopathy"", ""Leukoencephalopathies, Progressive Multifocal"", ""Multifocal Leukoencephalopathies, Progressive"", ""Multifocal Leukoencephalopathy, Progressive"", ""Multifocal leucoencephalopathy"", ""Multifocal leukoencephalopathy"", ""Multifocal leukoencephalopathy, NOS"", ""PML - Progressive multifocal leucoencephalopathy"", ""PML - Progressive multifocal leukoencephalopathy"", ""PMLE - Progressive multifocal leucoencephalopathy"", ""PMLE - Progressive multifocal leukoencephalopathy"", ""Progressive Multifocal Leukoencephalopathies"", ""Progressive Multifocal Leukoencephalopathy"", ""Progressive multifocal leucoencephalopathy""" """MeSH:D007968(Leukoencephalopathy, Progressive Multifocal)"", ""SnoMedCT:22255007(Progressive multifocal leucoencephalopathy)"", ""UMLS:C0023524(C0023524)"", ""MedDRA:10036806(Progressive multifocal leucoencephalopathy)"", ""NDFRT:N0000001836(Leukoencephalopathy, Progressive Multifocal [Disease/Finding])"", ""MONDO:MONDO:0016318(progressive multifocal leukoencephalopathy)""" +PA444773 Leukopenia Decreased blood leucocyte number, Decreased blood leukocyte number, Leucocytopenia, Leucopenia, Leukocytopenia, Leukocytopenias, Leukopenias MeSH:D007970(Leukopenia), SnoMedCT:419188005(Leukopenia), SnoMedCT:84828003(Leucopenia), UMLS:C0023530(C0023530), MedDRA:10068178(Leucocytopenia), NDFRT:N0000001838(Leukopenia [Disease/Finding]), MONDO:MONDO:0003785(leukopenia), HP:HP:0001882(Leukopenia) +PA447127 Lewy Body Disease """Cortical Lewy Body Disease"", ""Cortical Lewy body disease"", ""Dementia, Lewy Body"", ""Diffuse Lewy Body Disease"", ""Lewy Body Dementia"", ""Lewy Body Disease, Cortical"", ""Lewy Body Disease, Diffuse"", ""Lewy Body Type Senile Dementia"", ""Senile dementia of the Lewy body type""" MeSH:D020961(Lewy Body Disease), SnoMedCT:312991009(Senile dementia of the Lewy body type), SnoMedCT:80098002(Diffuse Lewy body disease), UMLS:C0752347(C0752347), MedDRA:10067889(Dementia with Lewy bodies), NDFRT:N0000004234(Lewy Body Disease [Disease/Finding]), MONDO:MONDO:0007488(Lewy body dementia), HP:HP:0100315(Lewy bodies) +PA165108952 Li-Fraumeni syndrome MeSH:D016864(Li-Fraumeni Syndrome), SnoMedCT:428850001(Li-Fraumeni syndrome), UMLS:C0085390(C0085390), MedDRA:10066795(Li-Fraumeni syndrome), NDFRT:N0000003489(Li-Fraumeni Syndrome [Disease/Finding]), MONDO:MONDO:0018875(Li-Fraumeni syndrome) +PA166327021 linear iga bullous dermatosis Linear IgA IgG Bullous Dermatosis MeSH:D062027(Linear IgA Bullous Dermatosis), MONDO:MONDO:0018748(linear IgA Dermatosis) +PA444785 Lipodystrophy Lipodystrophies MeSH:D008060(Lipodystrophy), SnoMedCT:190790002(Lipodystrophy NOS), SnoMedCT:71325002(Lipodystrophy), UMLS:C0023787(C0023787), MedDRA:10024606(Lipodystrophies), NDFRT:N0000001850(Lipodystrophy [Disease/Finding]), MONDO:MONDO:0006573(lipodystrophy), HP:HP:0009125(Lipodystrophy) +PA165108748 Listeriosis NOS MeSH:D008088(Listeriosis), SnoMedCT:186320001(Listeriosis NOS), UMLS:C0023860(C0023860), MedDRA:10024638(Listeria infection), NDFRT:N0000001859(Listeriosis [Disease/Finding]), MONDO:MONDO:0005828(listeriosis) +PA165108564 Liveborn with birth asphyxia NOS MeSH:D001238(Asphyxia Neonatorum), SnoMedCT:268831004(Liveborn with birth asphyxia NOS), UMLS:C0004045(C0004045), MedDRA:10003500(Asphyxia neonatal), NDFRT:N0000000495(Asphyxia Neonatorum [Disease/Finding]), MONDO:MONDO:0006663(perinatal asphyxia), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA444804 Liver cancer """Cancer of Liver"", ""Cancer of the Liver"", ""Cancer, Hepatic"", ""Cancer, Liver"", ""Cancers, Hepatic"", ""Cancers, Liver"", ""Hepatic Cancer"", ""Hepatic Cancers"", ""Hepatic Neoplasm"", ""Hepatic Neoplasms"", ""Hepatic tumor"", ""Hepatic tumour"", ""Hepatoma"", ""Liver Cancer"", ""Liver Cancers"", ""Liver Neoplasm"", ""Neoplasm of liver"", ""Neoplasm, Hepatic"", ""Neoplasm, Liver"", ""Neoplasms, Hepatic"", ""Neoplasms, Liver"", ""Tumor of liver""" MeSH:D008113(Liver Neoplasms), SnoMedCT:126851005(Neoplasm of liver), UMLS:C0023903(C0023903), MedDRA:10019694(Hepatic neoplasia), NDFRT:N0000001869(Liver Neoplasms [Disease/Finding]), MONDO:MONDO:0002691(liver cancer) +PA444797 Liver Cirrhosis """CL - Cirrhosis of liver"", ""Cirrhoses, Hepatic"", ""Cirrhoses, Liver"", ""Cirrhosis of liver"", ""Cirrhosis of liver without mention of alcohol"", ""Cirrhosis, Hepatic"", ""Cirrhosis, Liver"", ""Fibroses, Liver"", ""Fibrosis, Liver"", ""Hepatic Cirrhoses"", ""Hepatic Cirrhosis"", ""Hepatic cirrhosis, NOS"", ""Liver Cirrhoses"", ""Liver Fibroses"", ""Liver Fibrosis""" MeSH:D008103(Liver Cirrhosis), SnoMedCT:19943007(Cirrhosis of liver), SnoMedCT:235891006(Cirrhosis of liver NOS), UMLS:C0023890(C0023890), MedDRA:10009211(Cirrhosis liver), NDFRT:N0000001862(Liver Cirrhosis [Disease/Finding]), MONDO:MONDO:0005155(cirrhosis of liver) +PA444799 Liver Cirrhosis, Biliary """Biliary Cirrhoses"", ""Biliary Cirrhosis"", ""Biliary Liver Cirrhoses"", ""Biliary Liver Cirrhosis"", ""Biliary cirrhosis"", ""Biliary cirrhosis NOS"", ""Cholangitic cirrhosis"", ""Cholangitis, Chronic Nonsuppurative Destructive"", ""Cholestatic cirrhosis"", ""Chronic nonsuppurative destructive cholangitis"", ""Cirrhoses, Biliary"", ""Cirrhoses, Biliary Liver"", ""Cirrhoses, Obstructive Liver"", ""Cirrhosis, Biliary"", ""Cirrhosis, Biliary Liver"", ""Cirrhosis, Obstructive Liver"", ""Liver Cirrhoses, Biliary"", ""Liver Cirrhoses, Obstructive"", ""Liver Cirrhosis, Obstructive"", ""Obstructive Liver Cirrhoses"", ""Obstructive Liver Cirrhosis""" MONDO:MONDO:0005388(primary biliary cholangitis) +PA444801 Liver Disorder """Acute Yellow Atrophies"", ""Acute Yellow Atrophy"", ""Atrophies, Acute Yellow"", ""Atrophy, Acute Yellow"", ""Disease of liver"", ""Disease, Liver"", ""Diseases, Liver"", ""Dysfunction, Liver"", ""Dysfunctions, Liver"", ""Hepatopathy"", ""Liver Disease"", ""Liver Dysfunction"", ""Liver Dysfunctions"", ""Liver disease"", ""Liver disorder NOS"", ""Yellow Atrophies, Acute"", ""Yellow Atrophy, Acute""" MeSH:D008107(Liver Diseases), SnoMedCT:197375001(Liver disorder NOS), SnoMedCT:235856003(Disease of liver), UMLS:C0023895(C0023895), MedDRA:10024670(Liver disorder), NDFRT:N0000001866(Liver Diseases [Disease/Finding]), MONDO:MONDO:0005154(liver disorder) +PA446436 Liver Failure """Fulminant Hepatic Failure"", ""Fulminant Hepatic Failures"", ""Fulminant Liver Failure"", ""Fulminant Liver Failures"", ""Fulminating Hepatic Failure"", ""Fulminating Hepatic Failures"", ""Fulminating Liver Failure"", ""Fulminating Liver Failures"", ""Hepatic Failure"", ""Hepatic Failure, Fulminant"", ""Hepatic Failure, Fulminating"", ""Hepatic Failures, Fulminant"", ""Hepatic Failures, Fulminating"", ""Hepatic insufficiency"", ""Liver Failure, Fulminant"", ""Liver Failure, Fulminating"", ""Liver Failures, Fulminant"", ""Liver Failures, Fulminating"", ""Liver decompensation"", ""Liver function failure""" MeSH:D017093(Liver Failure), SnoMedCT:235882007(Liver failure NOS), SnoMedCT:235883002(Hepatic failure NOS), SnoMedCT:59927004(Hepatic failure), UMLS:C0085605(C0085605), MedDRA:10016152(Failure liver), NDFRT:N0000003527(Liver Failure [Disease/Finding]), MONDO:MONDO:0100192(liver failure) +PA446443 Liver Failure, Acute """ALF - Acute liver failure"", ""Acute Hepatic Failure"", ""Acute Liver Failure"", ""Acute hepatic failure"", ""Acute liver failure"", ""FHF - Fulminant hepatic failure"", ""Failure, Acute Hepatic"", ""Failure, Acute Liver"", ""Fulminant hepatic failure"", ""Hepatic Failure, Acute""" """MeSH:D017114(Liver Failure, Acute)"", ""SnoMedCT:197270009(Acute hepatic failure)"", ""SnoMedCT:235884008(Fulminant hepatic failure)"", ""UMLS:C0162557(C0162557)"", ""MedDRA:10000804(Acute hepatic failure)"", ""NDFRT:N0000003534(Liver Failure, Acute [Disease/Finding])"", ""MONDO:MONDO:0019542(acute liver failure)""" +PA447247 Liver transplantation """LTx - Liver transplant"", ""Transplantation of liver"", ""Transplantation of liver, NOS"", ""Tx - Liver transplantation""" MeSH:D016031(Liver Transplantation), SnoMedCT:174429009(Transplantation of liver NOS), SnoMedCT:18027006(Transplantation of liver), UMLS:C0023911(C0023911), MedDRA:10024714(Liver transplant) +PA166123310 Loeys-Dietz syndrome """Loeys Dietz Aortic Aneurysm Syndrome"", ""Loeys Dietz Syndrome"", ""Loeys Dietz Syndrome, Type 1a"", ""Loeys-Dietz Aortic Aneurysm Syndrome"", ""Loeys-Dietz Syndrome, Type 1a"", ""Syndrome, Loeys-Dietz""" MeSH:D055947(Loeys-Dietz Syndrome), SnoMedCT:446263001(Loeys-Dietz syndrome), MedDRA:10081284(Loeys-Dietz syndrome), MONDO:MONDO:0018954(Loeys-Dietz syndrome) +PA444807 Long QT Syndrome """Long QT Syndromes"", ""QT Syndrome, Long"", ""QT Syndromes, Long"", ""Syndrome, Long QT"", ""Syndromes, Long QT""" MeSH:D008133(Long QT Syndrome), SnoMedCT:9651007(Long QT syndrome), UMLS:C0023976(C0023976), MedDRA:10024803(Long QT syndrome), NDFRT:N0000010987(Long QT Syndrome [Disease/Finding]), MONDO:MONDO:0002442(long QT syndrome) +PA166343361 Low APGAR score Score, Apgar MeSH:D001034(Apgar Score), MedDRA:10062552(Apgar score), HP:HP:0030917(Low APGAR score) +PA446444 Low Back Pain """Ache, Low Back"", ""Aches, Low Back"", ""Back Ache, Low"", ""Back Aches, Low"", ""Back Pain, Low"", ""Back Pain, Lower"", ""Back Pains, Low"", ""Back Pains, Lower"", ""Backache, Low"", ""Backaches, Low"", ""LBP - Low back pain"", ""Low Back Ache"", ""Low Back Aches"", ""Low Back Pain, Mechanical"", ""Low Back Pain, Posterior Compartment"", ""Low Back Pain, Postural"", ""Low Back Pain, Recurrent"", ""Low Back Pains"", ""Low Backache"", ""Low Backaches"", ""Low back pain"", ""Low back syndrome"", ""Lower Back Pain"", ""Lower Back Pains"", ""Lumbago"", ""Lumbalgia"", ""Lumbar pain"", ""Mechanical Low Back Pain"", ""Nonspecific pain in the lumbar region"", ""Pain, Low Back"", ""Pain, Lower Back"", ""Pains, Low Back"", ""Pains, Lower Back"", ""Postural Low Back Pain"", ""Recurrent Low Back Pain""" MeSH:D017116(Low Back Pain), SnoMedCT:279039007(Low back pain), UMLS:C0024031(C0024031), MedDRA:10024890(Low back ache), NDFRT:N0000003535(Low Back Pain [Disease/Finding]), HP:HP:0003419(Low back pain) +PA165108631 Lown-Ganong-Levine syndrome Syndrome of short P-R interval, normal QRS complexes AND supraventricular tachycardias MeSH:D008151(Lown-Ganong-Levine Syndrome), SnoMedCT:55475008(Lown-Ganong-Levine syndrome), UMLS:C0024054(C0024054), MedDRA:10024984(Lown-Ganong-Levine syndrome), NDFRT:N0000001875(Lown-Ganong-Levine Syndrome [Disease/Finding]), MONDO:MONDO:0007174(Lown-Ganong-Levine syndrome) +PA166163564 low on-treatment platelet reactivity +PA161614136 Lumbar Disc Herniation UMLS:C0856301(Lumbar disc herniation), MedDRA:10066256(Lumbar disc herniation) +PA166048739 Lung Diseases, Fungal """NDFRT:N0000001880(Lung Diseases, Fungal)"", ""MONDO:MONDO:0005766(fungal lung infectious disease)""" +PA444814 Lung Disorder """Disease of lung, NOS"", ""Disease, Lung"", ""Disease, Pulmonary"", ""Diseases, Lung"", ""Diseases, Pulmonary"", ""Lung Disease"", ""Lung disorder"", ""Lung disorder, NOS"", ""Pulmonary Disease"", ""Pulmonary Diseases"", ""Pulmonary disease""" MeSH:D008171(Lung Diseases), SnoMedCT:196164004(Lung disease NOS), SnoMedCT:19829001(Disorder of lung), UMLS:C0024115(C0024115), MedDRA:10013235(Disorder lung), NDFRT:N0000001879(Lung Diseases [Disease/Finding]), MONDO:MONDO:0005275(lung disorder) +PA444818 Lung Neoplasms """Cancer of Lung"", ""Cancer of the Lung"", ""Cancer, Lung"", ""Cancer, Pulmonary"", ""Cancers, Lung"", ""Cancers, Pulmonary"", ""Lung Cancer"", ""Lung Cancers"", ""Lung Neoplasm"", ""Neoplasm of lung"", ""Neoplasm, Lung"", ""Neoplasm, Pulmonary"", ""Neoplasms, Lung"", ""Neoplasms, Pulmonary"", ""Pulmonary Cancer"", ""Pulmonary Cancers"", ""Pulmonary Neoplasm"", ""Pulmonary Neoplasms"", ""Tumor of lung"", ""Tumour of lung""" MeSH:D008175(Lung Neoplasms), SnoMedCT:126713003(Neoplasm of lung), UMLS:C0024121(C0024121), MedDRA:10062042(Lung neoplasm), NDFRT:N0000001883(Lung Neoplasms [Disease/Finding]), MONDO:MONDO:0021117(lung neoplasm) +PA166114457 Lung transplantation MeSH:D016040(Lung Transplantation) +PA444819 Lupus erythematosus LE - Lupus erythematosus, Lupus, Lupus Vulgaris, Lupus exedens, Lupus vulgaris, Tuberculosis - lupus NOS, Tuberculosis cutis luposa, Tuberculosis luposa cutis, Tuberculosis lupus exedens SnoMedCT:200936003(Lupus erythematosus), UMLS:C0409974(C0409974), MedDRA:10025131(Lupus erythematosis (NOS)), MONDO:MONDO:0004670(lupus erythematosus) +PA444823 Lupus Nephritis """Glomerulonephritides, Lupus"", ""Glomerulonephritis, Lupus"", ""Lupus Glomerulonephritides"", ""Lupus Glomerulonephritis"", ""Lupus Nephritides"", ""Lupus nephritis"", ""Nephritides, Lupus"", ""Nephritis, Lupus"", ""SLE glomerulonephritis syndrome, NOS""" MeSH:D008181(Lupus Nephritis), SnoMedCT:68815009(Systemic lupus erythematosus glomerulonephritis syndrome), UMLS:C0024143(C0024143), MedDRA:10025140(Lupus nephritis), NDFRT:N0000001888(Lupus Nephritis [Disease/Finding]), MONDO:MONDO:0005556(lupus nephritis), HP:HP:0033726(Lupus nephritis) +PA444825 Lyme Disease """Arthritis, Lyme"", ""Bannwarth syndrome"", ""Bannworth's syndrome"", ""Borreliosis, Lyme"", ""Disease, Lyme"", ""Infection by Borrelia burgdorferi"", ""Lyme Arthritis"", ""Lyme Borreliosis"", ""Lyme borreliosis"", ""Lyme disease"", ""Steere's disease""" MONDO:MONDO:0019632(Lyme disease) +PA446575 Lymphangioleiomyomatosis Lymphangioleiomyomatoses, Lymphangioleiomyomatosis, Lymphangiomyomatoses, Lymphangiomyomatosis MeSH:D018192(Lymphangioleiomyomatosis), SnoMedCT:73017001(Lymphangiomyomatosis), UMLS:C0751674(C0751674), MedDRA:10049459(Lymphangioleiomyomatosis), NDFRT:N0000171692(Lymphangioleiomyomatosis [Disease/Finding]), MONDO:MONDO:0006277(lung lymphangioleiomyomatosis), MONDO:MONDO:0011705(lymphangioleiomyomatosis) +PA444833 Lymphatic Diseases """Disease of lymphoid system"", ""Disease, Lymphatic"", ""Diseases, Lymphatic"", ""Lymphadenopathies"", ""Lymphadenopathy"", ""Lymphatic Disease"", ""Lymphatism"", ""Status Lymphaticus""" MeSH:D008206(Lymphatic Diseases), SnoMedCT:111590001(Disorder of lymphoid system), SnoMedCT:234087005(Disorders of lymph node and lymphatics), SnoMedCT:362971004(Disorder of lymphatic system), UMLS:C0024228(C0024228), MedDRA:10025197(Lymphadenopathy), NDFRT:N0000001898(Lymphatic Diseases [Disease/Finding]), MONDO:MONDO:0005833(lymphatic system disorder) +PA444835 Lymphedema """Acquired lymphedema"", ""Acquired lymphoedema"", ""Disease, Milroy"", ""Disease, Milroy's"", ""Lymphatic edema"", ""Lymphatic oedema"", ""Lymphedema, NOS"", ""Lymphedemas"", ""Lymphoedema"", ""Lymphoedema, NOS"", ""Milroy Disease"", ""Milroy's Disease"", ""Milroys Disease""" MeSH:D008209(Lymphedema), SnoMedCT:234097001(Lymphoedema), SnoMedCT:30213001(Lymphatic edema), UMLS:C0024236(C0024236), MedDRA:10025233(Lymphedema), NDFRT:N0000001900(Lymphedema [Disease/Finding]), MONDO:MONDO:0019297(lymphedema), HP:HP:0001004(Lymphedema) +PA444756 Lymphoid Leukemia """Aleukaemic lymphatic leukaemia [obs]"", ""Aleukaemic lymphocytic leukaemia [obs]"", ""Aleukaemic lymphoid leukaemia [obs]"", ""Aleukemic lymphatic leukemia [obs]"", ""Aleukemic lymphocytic leukemia [obs]"", ""Aleukemic lymphoid leukemia [obs]"", ""B-cell prolymphocytic leukaemia"", ""Leukemia, Large Granular Lymphocytic"", ""Leukemia, Lymphoblastic"", ""Leukemia, Lymphocytic"", ""Leukemia, Lymphocytic, Large Granular"", ""Leukemia, Lymphoid"", ""Leukemia, Prolymphocytic, B-Cell"", ""Leukemias, Lymphoblastic"", ""Leukemias, Lymphocytic"", ""Leukemias, Lymphoid"", ""Lymphatic leukaemia"", ""Lymphatic leukemia"", ""Lymphoblastic Leukemia"", ""Lymphoblastic Leukemias"", ""Lymphocytic Leukemia"", ""Lymphocytic Leukemias"", ""Lymphocytic leukaemia"", ""Lymphocytic leukemia, NOS"", ""Lymphoid Leukemia"", ""Lymphoid Leukemias"", ""Lymphoid leukaemia"", ""Lymphoid leukaemia, no ICD-O subtype"", ""Lymphoid leukemia"", ""Lymphoid leukemia, NOS"", ""Lymphoid leukemia, no ICD-O subtype"", ""Lymphosarcoma cell leukaemia [obs]"", ""Lymphosarcoma cell leukemia [obs]"", ""Subacute lymphatic leukaemia [obs]"", ""Subacute lymphocytic leukaemia [obs]"", ""Subacute lymphocytic leukemia [obs]""" """MeSH:D007945(Leukemia, Lymphoid)"", ""SnoMedCT:188725004(Lymphoid leukemia)"", ""SnoMedCT:188731001(Lymphoid leukemia NOS)"", ""SnoMedCT:32280000(Lymphoid leukemia)"", ""UMLS:C0023448(C0023448)"", ""MedDRA:10024301(Leukaemia lymphatic)"", ""NDFRT:N0000001821(Leukemia, Lymphoid [Disease/Finding])"", ""MONDO:MONDO:0005402(lymphoid leukemia)"", ""HP:HP:0005526(Lymphoid leukemia)""" +PA444840 Lymphoma """Germinoblastic Sarcoma"", ""Germinoblastic Sarcomas"", ""Germinoblastoma"", ""Germinoblastomas"", ""Lymphoma (clinical)"", ""Lymphoma, Malignant"", ""Lymphomas"", ""Lymphomas, Malignant"", ""Malignant Lymphoma"", ""Malignant Lymphomas"", ""Malignant lymphoma"", ""Malignant lymphoma, no ICD-O subtype"", ""Microglioma [obs]"", ""Reticulolymphosarcoma"", ""Reticulolymphosarcomas"", ""Sarcoma, Germinoblastic"", ""Sarcomas, Germinoblastic""" MeSH:D008223(Lymphoma), SnoMedCT:118600007(Malignant lymphoma), SnoMedCT:188694002(Malignant lymphoma NOS), SnoMedCT:188695001(Malignant lymphoma NOS of unspecified site), SnoMedCT:21964009(Malignant lymphoma), UMLS:C0024299(C0024299), MedDRA:10025310(Lymphoma), NDFRT:N0000001905(Lymphoma [Disease/Finding]), MONDO:MONDO:0005062(lymphoma), HP:HP:0002665(Lymphoma) +PA446304 Lymphoma, B-Cell """B Cell Lymphoma"", ""B-Cell Lymphoma"", ""B-Cell Lymphomas"", ""B-cell lymphoma"", ""B-cell lymphoma (clinical)"", ""Lymphoma, B Cell"", ""Lymphomas, B-Cell""" """MeSH:D016393(Lymphoma, B-Cell)"", ""SnoMedCT:109979007(B-cell lymphoma (clinical))"", ""UMLS:C0079731(C0079731)"", ""MedDRA:10003899(B-cell lymphoma)"", ""NDFRT:N0000003393(Lymphoma, B-Cell [Disease/Finding])"", ""MONDO:MONDO:0004095(B-cell neoplasm)"", ""HP:HP:0012191(B-cell lymphoma)""" +PA160680212 Lymphoma, Large B-Cell, Diffuse """Anaplastic large B-cell lymphoma"", ""Angioendotheliomatosis"", ""Angiotropic lymphoma"", ""Diffuse Large B Cell Lymphoma"", ""Diffuse large B-cell lymphoma"", ""Diffuse malignant lymphoma - histiocytic"", ""Diffuse malignant lymphoma - large cell"", ""Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma"", ""Diffuse non-Hodgkin's lymphoma, immunoblastic"", ""Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical)"", ""Diffuse non-Hodgkin's lymphoma, large cell"", ""Diffuse non-Hodgkin's lymphoma, large cell (clinical)"", ""Histiocyte-rich large B-cell lymphoma"", ""Histiocytic Lymphoma"", ""Histiocytic Lymphomas"", ""Immunoblastic malignant lymphoma - large cell"", ""Large Cell Lymphoma"", ""Large-Cell Lymphoma"", ""Large-Cell Lymphomas"", ""Lymphoma, Histiocytic"", ""Lymphoma, Large B-Cell, Diffuse"", ""Lymphoma, Large Cell"", ""Lymphoma, Large-Cell"", ""Lymphoma, Large-Cell, Immunoblastic"", ""Lymphomas, Histiocytic"", ""Lymphomas, Large-Cell"", ""Malignant lymphoma - immunoblastic"", ""Malignant lymphoma - large cell cleaved and non-cleaved"", ""Malignant lymphoma, centroblastic"", ""Malignant lymphoma, histiocytic, NOS"", ""Malignant lymphoma, histiocytic, diffuse"", ""Malignant lymphoma, large B-cell"", ""Malignant lymphoma, large B-cell, diffuse"", ""Malignant lymphoma, large B-cell, diffuse, centroblastic"", ""Malignant lymphoma, large B-cell, diffuse, no ICD-O subtype"", ""Malignant lymphoma, large cell"", ""Malignant lymphoma, large cell, cleaved"", ""Malignant lymphoma, large cell, diffuse [obs]"", ""Malignant lymphoma, large cell, diffuse, NOS"", ""Malignant lymphoma, large cell, immunoblastic"", ""Malignant lymphoma, large cell, noncleaved"", ""Malignant lymphoma, large cell, noncleaved, diffuse"", ""Malignant lymphoma, noncleaved"", ""Malignant lymphoma, noncleaved, diffuse"", ""Reticulosarcoma"", ""Reticulosarcomas"", ""Reticulum Cell Sarcoma"", ""Reticulum-Cell Sarcoma"", ""Reticulum-Cell Sarcomas"", ""Sarcoma, Reticulum Cell"", ""Sarcoma, Reticulum-Cell"", ""Sarcomas, Reticulum-Cell"", ""T-cell rich large B-cell lymphoma"", ""T-cell rich/histiocyte-rich large B-cell lymphoma"", ""[M]Malignant lymphoma, immunoblastic type"", ""[M]Malignant lymphoma, large cell, diffuse NOS""" """MeSH:D016403(Lymphoma, Large B-Cell, Diffuse)"", ""SnoMedCT:109969005(Diffuse non-Hodgkin's lymphoma, large cell (clinical))"", ""SnoMedCT:46732000(Malignant lymphoma, large B-cell, diffuse)"", ""UMLS:C0079744(C0079744)"", ""MedDRA:10012818(Diffuse large B-cell lymphoma)"", ""NDFRT:N0000003402(Lymphoma, Large B-Cell, Diffuse [Disease/Finding])"", ""MONDO:MONDO:0018905(diffuse large B-cell lymphoma)""" +PA446541 Lymphoma, Large-Cell, Anaplastic """(Ki-1+) lymphoma"", ""CD30 Positive Anaplastic Large Cell Lymphoma"", ""CD30+ Anaplastic Large Cell Lymphoma"", ""CD30+ Anaplastic Large-Cell Lymphoma"", ""CD30-Positive Anaplastic Large-Cell Lymphoma"", ""Ki 1 Large Cell Lymphoma"", ""Ki 1 Lymphoma"", ""Ki 1 Positive Anaplastic Large Cell Lymphoma"", ""Ki 1 Positive Large Cell Lymphoma"", ""Ki 1+ Anaplastic Large Cell Lymphoma"", ""Ki-1 Large-Cell Lymphoma"", ""Ki-1 Large-Cell Lymphomas"", ""Ki-1 Lymphoma"", ""Ki-1 Lymphomas"", ""Ki-1+ Anaplastic Large-Cell Lymphoma"", ""Ki-1-Positive Anaplastic Large-Cell Lymphoma"", ""Ki-1-Positive Large-Cell Lymphoma"", ""Ki-1-Positive Large-Cell Lymphomas"", ""Large cell (Ki-1+) lymphoma"", ""Large cell anaplastic lymphoma"", ""Large-Cell Lymphoma, Ki-1"", ""Large-Cell Lymphoma, Ki-1-Positive"", ""Large-Cell Lymphomas, Ki-1"", ""Large-Cell Lymphomas, Ki-1-Positive"", ""Lymphoma, Ki 1"", ""Lymphoma, Ki-1"", ""Lymphoma, Ki-1 Large-Cell"", ""Lymphoma, Ki-1-Positive Large-Cell"", ""Lymphoma, Large-Cell, Ki-1"", ""Lymphomas, Ki-1"", ""Lymphomas, Ki-1 Large-Cell"", ""Lymphomas, Ki-1-Positive Large-Cell""" """MeSH:D017728(Lymphoma, Large-Cell, Anaplastic)"", ""SnoMedCT:277637000(Large cell anaplastic lymphoma)"", ""SnoMedCT:53237008(Anaplastic large cell lymphoma, T cell and Null cell type)"", ""UMLS:C0206180(C0206180)"", ""NDFRT:N0000003632(Lymphoma, Large-Cell, Anaplastic [Disease/Finding])"", ""MONDO:MONDO:0020325(anaplastic large cell lymphoma)"", ""HP:HP:0012193(Anaplastic large-cell lymphoma)""" +PA446309 Lymphoma, T-Cell """Lymphoma, T Cell"", ""Lymphomas, T-Cell"", ""T Cell Lymphoma"", ""T-Cell Lymphoma"", ""T-Cell Lymphomas"", ""T-cell lymphoma (clinical)""" """MeSH:D016399(Lymphoma, T-Cell)"", ""SnoMedCT:109978004(T-cell lymphoma (clinical))"", ""UMLS:C0079772(C0079772)"", ""MedDRA:10025321(Lymphomas non-Hodgkin's T-cell)"", ""NDFRT:N0000003398(Lymphoma, T-Cell [Disease/Finding])"", ""MONDO:MONDO:0015760(T-cell non-Hodgkin lymphoma)"", ""HP:HP:0012190(T-cell lymphoma)""" +PA446320 Lymphoma, T-Cell, Cutaneous """Cutaneous T Cell Lymphoma"", ""Cutaneous T-Cell Lymphoma"", ""Cutaneous T-Cell Lymphomas"", ""Cutaneous T-cell lymphoma"", ""Cutaneous T-cell lymphoma, no ICD-O subtype"", ""Cutaneous lymphoma, NOS"", ""Granulomatous Slack Skin"", ""Lymphoma, Cutaneous T-Cell"", ""Lymphoma, T Cell, Cutaneous"", ""Lymphomas, Cutaneous T-Cell"", ""Primary cutaneous T-cell lymphoma"", ""Slack Skin, Granulomatous"", ""T Cell Lymphoma, Cutaneous"", ""T-Cell Lymphoma, Cutaneous"", ""T-Cell Lymphomas, Cutaneous"", ""[M]Cutaneous lymphoma""" """MeSH:D016410(Lymphoma, T-Cell, Cutaneous)"", ""SnoMedCT:28054005(Cutaneous T-cell lymphoma)"", ""SnoMedCT:400122007(Primary cutaneous T-cell lymphoma)"", ""UMLS:C0079773(C0079773)"", ""MedDRA:10011677(Cutaneous T-cell lymphoma)"", ""NDFRT:N0000003409(Lymphoma, T-Cell, Cutaneous [Disease/Finding])"", ""MONDO:MONDO:0000607(primary cutaneous T-cell non-Hodgkin lymphoma)"", ""MONDO:MONDO:0015758(primary cutaneous T-cell lymphoma)"", ""HP:HP:0012192(Cutaneous T-cell lymphoma)""" +PA444848 Lymphopenia """Lymphocytopenia"", ""Lymphocytopenia, NOS"", ""Lymphocytopenias"", ""Lymphopenias""" MeSH:D008231(Lymphopenia), SnoMedCT:48813009(Lymphocytopenia), UMLS:C0024312(C0024312), MedDRA:10025278(Lymphocytopenia), NDFRT:N0000001913(Lymphopenia [Disease/Finding]), MONDO:MONDO:0003783(lymphopenia), HP:HP:0001888(Lymphopenia) +PA443761 Lynch syndrome """Hereditary Nonpolyposis Colorectal Cancer"", ""Hereditary Nonpolyposis Colorectal Neoplasms"", ""Lynch Syndrome"", ""Lynch Syndrome I"", ""Lynch Syndrome II"", ""Syndrome, Lynch""" """MeSH:D003123(Colorectal Neoplasms, Hereditary Nonpolyposis)"", ""SnoMedCT:315058005(Hereditary nonpolyposis colon cancer)"", ""UMLS:C0009405(C0009405)"", ""NDFRT:N0000000818(Colorectal Neoplasms, Hereditary Nonpolyposis [Disease/Finding])"", ""MONDO:MONDO:0005835(Lynch syndrome)""" +PA165109118 Macrocytic anemia of unspecified cause Macrocytic anaemia of unspecified cause MONDO:MONDO:0002281(macrocytic anemia) +PA134850558 Macular Degeneration """Age Related Maculopathies"", ""Age Related Maculopathy"", ""Age-Related Macular Degeneration"", ""Age-Related Maculopathies"", ""Age-Related Maculopathy"", ""Degeneration, Macular"", ""Degenerations, Macular"", ""Degenerative disorder of macula"", ""Macular Degeneration"", ""Macular Degenerations"", ""Macular Edema"", ""Macular edema"", ""Macular oedema"", ""Maculopathies, Age Related"", ""Maculopathies, Age-Related"", ""Maculopathy, Age Related"", ""Maculopathy, Age-Related""" MeSH:D008268(Macular Degeneration), SnoMedCT:422338006(Degenerative disorder of macula), UMLS:C0024437(C0024437), MedDRA:10012148(Degeneration macular), NDFRT:N0000001918(Macular Degeneration [Disease/Finding]), MONDO:MONDO:0003004(macular degeneration), HP:HP:0000608(Macular degeneration) +PA444854 Macular Edema """Central Retinal Edema, Cystoid"", ""Cystoid Macular Edema"", ""Cystoid Macular Edemas"", ""Edema, Cystoid Macular"", ""Edemas, Cystoid Macular"", ""Macular Edema, Cystoid"", ""Macular Edemas, Cystoid"", ""Macular edema"", ""Macular oedema""" MeSH:D008269(Macular Edema), SnoMedCT:37231002(Macular retinal edema), UMLS:C0271051(C0271051), MedDRA:10054467(Macular edema), NDFRT:N0000001919(Macular Edema [Disease/Finding]), HP:HP:0040049(Macular edema) +PA162316739 Maculopapular Exanthema Maculopapular eruption, Maculopapular rash SnoMedCT:247471006(Maculopapular eruption), HP:HP:0040186(Maculopapular exanthema) +PA444856 Magnesium Deficiency """Deficiencies, Magnesium"", ""Deficiency, Magnesium"", ""Magnesium Deficiencies"", ""Magnesium deficiency""" MeSH:D008275(Magnesium Deficiency), SnoMedCT:238118002(Magnesium deficiency), UMLS:C0024473(C0024473), MedDRA:10025433(Magnesium deficiency), NDFRT:N0000001921(Magnesium Deficiency [Disease/Finding]), MONDO:MONDO:0006844(magnesium deficiency) +PA166129560 Major Adverse Cardiac Events (MACE) MACE, Major adverse cardiovascular events +PA447321 Major Depressive Disorder MDD, Major depression, Major depressive disorder, major depression """MeSH:D003865(Depressive Disorder, Major)"", ""SnoMedCT:370143000(Major depressive disorder)"", ""UMLS:C1269683(C1269683)"", ""MedDRA:10057840(Major depression)"", ""NDFRT:N0000011159(Depressive Disorder, Major [Disease/Finding])"", ""MONDO:MONDO:0002009(major depressive disorder)""" +PA444857 Malabsorption Syndromes """Intestinal malabsorption"", ""Intestinal malabsorption, NOS"", ""Malabsorption Syndrome"", ""Malabsorption syndrome"", ""Malabsorption syndrome NOS"", ""Malabsorption syndrome, NOS"", ""Malabsorption, NOS"", ""Syndrome, Malabsorption"", ""Syndromes, Malabsorption""" MeSH:D008286(Malabsorption Syndromes), SnoMedCT:197476001(Intestinal malabsorption), SnoMedCT:197497000(Intestinal malabsorption NOS), SnoMedCT:235716009(Malabsorption syndrome NOS), SnoMedCT:32230006(Malabsorption syndrome), UMLS:C0024523(C0024523), MedDRA:10022683(Intestinal malabsorption), NDFRT:N0000001922(Malabsorption Syndromes [Disease/Finding]), MONDO:MONDO:0020598(malabsorption syndrome) +PA166123209 malaise SnoMedCT:367391008(367391008), HP:HP:0033834(Malaise) +PA444859 Malaria """Disease due to Plasmodiidae"", ""Infection, Plasmodium"", ""Infections, Plasmodium"", ""Malaria, NOS"", ""Malarial fever"", ""Paludism"", ""Plasmodiosis"", ""Plasmodium Infection"", ""Plasmodium Infections""" MeSH:D008288(Malaria), SnoMedCT:105649009(Disease due to Plasmodiidae), SnoMedCT:186797008(Unspecified malaria), SnoMedCT:248437004(Malarial fever), SnoMedCT:61462000(Malaria), UMLS:C0024530(C0024530), MedDRA:10025487(Malaria), NDFRT:N0000001924(Malaria [Disease/Finding]), MONDO:MONDO:0005136(malaria) +PA446391 Malaria, Cerebral """Cerebral Malaria"", ""Malaria Meningitis"", ""Meningitis, Malaria""" MONDO:MONDO:0005625(cerebral malaria) +PA446390 Malaria, Falciparum """Falciparum Malaria"", ""Malaria by Plasmodium falciparum"", ""Malaria, Plasmodium falciparum"", ""Malignant tertian fever"", ""Pernicious malaria"", ""Plasmodium falciparum Malaria"", ""Subtertian malaria""" """MeSH:D016778(Malaria, Falciparum)"", ""SnoMedCT:248441000(Malignant tertian fever)"", ""SnoMedCT:62676009(Falciparum malaria)"", ""UMLS:C0024535(C0024535)"", ""MedDRA:10016171(Falciparum malaria)"", ""NDFRT:N0000003481(Malaria, Falciparum [Disease/Finding])"", ""MONDO:MONDO:0005920(Plasmodium falciparum malaria)""" +PA446392 Malaria, Vivax """BT - Benign tertian malaria"", ""BTM - Benign tertian malaria"", ""Benign tertian malaria"", ""Malaria by Plasmodium vivax"", ""Malaria, Plasmodium vivax"", ""Plasmodium vivax Malaria"", ""Vivax Malaria"", ""Vivax malaria"", ""Vivax malaria - benign tertian""" """MeSH:D016780(Malaria, Vivax)"", ""SnoMedCT:27052006(Vivax malaria)"", ""UMLS:C0024537(C0024537)"", ""MedDRA:10043288(Tertian malaria)"", ""NDFRT:N0000003483(Malaria, Vivax [Disease/Finding])"", ""MONDO:MONDO:0005921(Plasmodium vivax malaria)""" +PA166358361 Male Gender Male Gender NDFRT:N0000010199(Male Gender [Disease/Finding]) +PA444863 Malignant Hyperthermia """Hyperpyrexia, Malignant"", ""Hyperpyrexias, Malignant"", ""Hyperthermia, Malignant"", ""MH - Malignant hyperpyrexia"", ""Malignant Hyperpyrexia"", ""Malignant Hyperpyrexias"", ""Malignant Hyperthermias"", ""Malignant hyperpyrexia due to anaesthesia"", ""Malignant hyperpyrexia due to anesthesia""" MeSH:D008305(Malignant Hyperthermia), SnoMedCT:213026003(Malignant hyperpyrexia due to anesthetic), SnoMedCT:405501007(Malignant hyperthermia), UMLS:C0024591(C0024591), MedDRA:10016561(Fever malignant), NDFRT:N0000001928(Malignant Hyperthermia [Disease/Finding]), MONDO:MONDO:0018493(malignant hyperthermia of anesthesia), HP:HP:0002047(Malignant hyperthermia) +PA166048862 Mansonelliasis NDFRT:N0000001941(Mansonelliasis), MONDO:MONDO:0005838(mansonelliasis) +PA447055 Mantle cell lymphoma """Centrocytic Small-Cell Lymphoma"", ""Centrocytic Small-Cell Lymphomas"", ""Diffuse Lymphocytic Lymphoma, Poorly Differentiated"", ""Diffuse Lymphocytic Lymphoma, Poorly-Differentiated"", ""Lymphocytic Lymphoma, Diffuse, Poorly Differentiated"", ""Lymphocytic Lymphoma, Diffuse, Poorly-Differentiated"", ""Lymphoma, Centrocytic Small Cell"", ""Lymphoma, Centrocytic Small-Cell"", ""Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated"", ""Lymphoma, Lymphocytic, Diffuse, Poorly-Differentiated"", ""Lymphoma, Lymphocytic, Intermediate"", ""Lymphoma, Mantle Cell"", ""Lymphoma, Mantle-Zone"", ""Lymphoma, Small-Cell, Centrocytic"", ""Lymphomas, Centrocytic Small-Cell"", ""Lymphomas, Mantle-Cell"", ""Lymphomas, Mantle-Zone"", ""Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse"", ""Mantle Cell Lymphoma"", ""Mantle Zone Lymphoma"", ""Mantle-Cell Lymphoma"", ""Mantle-Cell Lymphomas"", ""Mantle-Zone Lymphoma"", ""Mantle-Zone Lymphomas"", ""Small-Cell Lymphoma, Centrocytic"", ""Small-Cell Lymphomas, Centrocytic""" """MeSH:D020522(Lymphoma, Mantle-Cell)"", ""SnoMedCT:74654000(Mantle cell lymphoma)"", ""UMLS:C0334634(C0334634)"", ""MedDRA:10061275(Mantle cell lymphoma)"", ""NDFRT:N0000004161(Lymphoma, Mantle-Cell [Disease/Finding])"", ""MONDO:MONDO:0018876(mantle cell lymphoma)""" +PA165108319 Marburg hemorrhagic fever Marburg haemorrhagic fever, Marburg virus disease, Vervet monkey disease MeSH:D008379(Marburg Virus Disease), SnoMedCT:77503002(Marburg virus disease), UMLS:C0024788(C0024788), MedDRA:10026822(Marburg disease), NDFRT:N0000001943(Marburg Virus Disease [Disease/Finding]), MONDO:MONDO:0020500(Marburg hemorrhagic fever) +PA444880 Marfan Syndrome """Arachnodactylies"", ""Arachnodactyly"", ""Marfan's Syndrome"", ""Marfan's syndrome"", ""Marfans Syndrome"", ""Syndrome, Marfan"", ""Syndrome, Marfan's""" MeSH:D008382(Marfan Syndrome), SnoMedCT:19346006(Marfan's syndrome), UMLS:C0024796(C0024796), MedDRA:10026829(Marfan's syndrome), NDFRT:N0000001945(Marfan Syndrome [Disease/Finding]), MONDO:MONDO:0007947(Marfan syndrome) +PA443602 Marijuana Abuse """Abuse, Cannabis"", ""Abuse, Hashish"", ""Abuse, Marihuana"", ""Abuse, Marijuana"", ""Cannabis Abuse"", ""Cannabis Dependence"", ""Cannabis Related Disorder"", ""Cannabis-Related Disorder"", ""Dependence, Cannabis"", ""Dependence, Marijuana"", ""Disorder, Cannabis-Related"", ""Hashish Abuse"", ""Marihuana Abuse"", ""Marijuana Dependence""" MeSH:D002189(Marijuana Abuse), UMLS:C0024809(Marijuana Abuse [Disease/Finding]), NDFRT:N0000000655(Marijuana Abuse [Disease/Finding]), MONDO:MONDO:0005689(cannabis dependence) +PA145007155 Martsolf Syndrome MeSH:C536028(Martsolf syndrome), MONDO:MONDO:0023910(Martsolf syndrome), MONDO:MONDO:8000008(Martsolf syndrome 1) +PA444883 Mastocytosis """Benign Mastocytoma"", ""Benign Mastocytomas"", ""Disease, Mast-Cell"", ""Diseases, Mast-Cell"", ""Mast Cell Disease"", ""Mast cell disorder"", ""Mast cell hyperplasia"", ""Mast-Cell Disease"", ""Mast-Cell Diseases"", ""Mastocytoma, Benign"", ""Mastocytomas, Benign"", ""Mastocytoses""" MeSH:D008415(Mastocytosis), SnoMedCT:125541005(Mast cell hyperplasia), SnoMedCT:397007003(Mast cell disorder), UMLS:C0024899(C0024899), MedDRA:10026891(Mastocytosis), NDFRT:N0000001949(Mastocytosis [Disease/Finding]), MONDO:MONDO:0007950(mastocytosis), HP:HP:0100495(Mastocytosis) +PA152239578 Matthew-Wood Syndrome MONDO:MONDO:0011010(Matthew-Wood syndrome) +PA166048865 Maxillary Sinusitis NDFRT:N0000003283(Maxillary Sinusitis), MONDO:MONDO:0005842(maxillary sinusitis) +PA444890 Measles Measles without mention of complication, Morbilli, Rubeola MeSH:D008457(Measles), SnoMedCT:14189004(Measles), UMLS:C0025007(C0025007), MedDRA:10027011(Measles), NDFRT:N0000001956(Measles [Disease/Finding]), MONDO:MONDO:0004619(measles) +PA143414733 Meckel syndrome MONDO:MONDO:0018921(Meckel syndrome) +PA166328461 Medication adherence """Compliance"", ""Persistence, Medication"", ""Treatment adherence""" MeSH:D055118(Medication Adherence) +PA444898 Medulloblastoma """Adult Medulloblastoma"", ""Adult Medulloblastomas"", ""Arachnoidal Cerebellar Sarcoma, Circumscribed"", ""Childhood Medulloblastoma"", ""Childhood Medulloblastomas"", ""Desmoplastic Medulloblastoma"", ""Desmoplastic Medulloblastomas"", ""Medulloblastoma, Adult"", ""Medulloblastoma, Childhood"", ""Medulloblastoma, Desmoplastic"", ""Medulloblastoma, Melanocytic"", ""Medulloblastomas"", ""Medulloblastomas, Adult"", ""Medulloblastomas, Childhood"", ""Medulloblastomas, Desmoplastic"", ""Medulloblastomas, Melanocytic"", ""Medullomyoblastoma"", ""Medullomyoblastomas"", ""Melanocytic Medulloblastoma"", ""Melanocytic Medulloblastomas"", ""Melanotic medulloblastoma"", ""Sarcoma, Cerebellar, Circumscribed Arachnoidal""" MeSH:D008527(Medulloblastoma), SnoMedCT:83217000(Medulloblastoma), UMLS:C0025149(C0025149), MedDRA:10027107(Medulloblastoma), NDFRT:N0000001964(Medulloblastoma [Disease/Finding]), MONDO:MONDO:0007959(medulloblastoma), HP:HP:0002885(Medulloblastoma) +PA444899 Megacolon Megacolons MeSH:D008531(Megacolon), SnoMedCT:197144003(Megacolon NOS), UMLS:C0025160(C0025160), MedDRA:10049896(Colectasia), NDFRT:N0000001965(Megacolon [Disease/Finding]), MONDO:MONDO:0001273(megacolon), HP:HP:6000852(Megacolon) +PA166048715 Megacolon, Toxic """NDFRT:N0000001966(Megacolon, Toxic)"", ""MONDO:MONDO:0002105(toxic megacolon)""" +PA443349 Megaloblastic Anemia """Anemias, Megaloblastic"", ""Megaloblastic Anemia"", ""Megaloblastic Anemias"", ""Megaloblastic anaemia"", ""Megaloblastic anaemia NOS"", ""Megaloblastic anemia NOS""" """MeSH:D000749(Anemia, Megaloblastic)"", ""SnoMedCT:234357005(Megaloblastic anemia NOS)"", ""SnoMedCT:53165003(Megaloblastic anaemia)"", ""UMLS:C0002888(C0002888)"", ""MedDRA:10002065(Anaemia megaloblastic)"", ""NDFRT:N0000000393(Anemia, Megaloblastic [Disease/Finding])"", ""MONDO:MONDO:0001700(megaloblastic anemia)"", ""HP:HP:0001889(Megaloblastic anemia)""" +PA444903 Melanoma """MM - Malignant melanoma"", ""Malignant Melanoma"", ""Malignant Melanomas"", ""Malignant melanoma, no ICD-O subtype"", ""Melanoma, Malignant"", ""Melanoma, NOS"", ""Melanomas"", ""Melanomas, Malignant"", ""Melanosarcoma""" """MeSH:D008545(Melanoma)"", ""SnoMedCT:2092003(Malignant melanoma, no ICD-O subtype)"", ""SnoMedCT:372244006(Malignant melanoma)"", ""UMLS:C0025202(C0025202)"", ""MedDRA:10025650(Malignant melanoma)"", ""NDFRT:N0000001969(Melanoma [Disease/Finding])"", ""MONDO:MONDO:0005105(melanoma)"", ""HP:HP:0002861(Melanoma)""" +PA166048727 Melanoma, Amelanotic """NDFRT:N0000003789(Melanoma, Amelanotic)"", ""MONDO:MONDO:0002971(amelanotic melanoma)""" +PA444910 Memory impairment """Cognitive Retention Disorder"", ""Cognitive Retention Disorders"", ""Deficit, Memory"", ""Deficits, Memory"", ""Memory Deficit"", ""Memory Deficits"", ""Memory Disorder"", ""Memory Loss"", ""Memory Losses"", ""Retention Disorder, Cognitive"", ""Retention Disorders, Cognitive""" MeSH:D008569(Memory Disorders), UMLS:C0025261(Memory Disorders [Disease/Finding]), NDFRT:N0000001976(Memory Disorders [Disease/Finding]), HP:HP:0002354(Memory impairment) +PA166048867 Meningeal Neoplasms NDFRT:N0000001978(Meningeal Neoplasms), MONDO:MONDO:0016743(tumor of meninges) +PA165108466 Meningeal Tuberculosis Tuberculous meningitis NOS """MeSH:D014390(Tuberculosis, Meningeal)"", ""SnoMedCT:186215003(Tuberculous meningitis NOS)"", ""UMLS:C0041318(C0041318)"", ""MedDRA:10027190(Meningeal tuberculosis)"", ""NDFRT:N0000003042(Tuberculosis, Meningeal [Disease/Finding])"", ""MONDO:MONDO:0006042(meningeal tuberculosis)""" +PA444915 Meningitis Meningitides, Pachymeningitides, Pachymeningitis MeSH:D008581(Meningitis), SnoMedCT:192678004(Meningitis of unspecified cause), SnoMedCT:192681009(Unspecified meningitis), SnoMedCT:7180009(Meningitis), UMLS:C0025289(C0025289), MedDRA:10027199(Meningitis), NDFRT:N0000001981(Meningitis [Disease/Finding]), MONDO:MONDO:0021108(meningitis), HP:HP:0001287(Meningitis) +PA446421 Meningitis, Bacterial """Bacterial Meningitides"", ""Bacterial Meningitis"", ""Bacterial meningitis NOS"", ""Meningitides, Bacterial""" """MeSH:D016920(Meningitis, Bacterial)"", ""SnoMedCT:192662001(Bacterial meningitis NOS)"", ""SnoMedCT:95883001(Bacterial meningitis)"", ""UMLS:C0085437(C0085437)"", ""MedDRA:10004049(Bacterial meningitis)"", ""NDFRT:N0000003512(Meningitis, Bacterial [Disease/Finding])"", ""MONDO:MONDO:0006670(bacterial meningitis)""" +PA166048895 Meningitis, Fungal """NDFRT:N0000003513(Meningitis, Fungal)"", ""MONDO:MONDO:0006764(fungal meningitis)"", ""HP:HP:0032159(Fungal meningitis)""" +PA166048782 Meningitis, Haemophilus """NDFRT:N0000001983(Meningitis, Haemophilus)"", ""MONDO:MONDO:0000889(haemophilus meningitis)""" +PA166048781 Meningitis, Meningococcal """NDFRT:N0000001985(Meningitis, Meningococcal)"", ""MONDO:MONDO:0018059(meningococcal meningitis)""" +PA444920 Meningitis, Pneumococcal """Experimental Pneumococcal Meningitides"", ""Experimental Pneumococcal Meningitis"", ""Meningitides, Streptococcus pneumoniae"", ""Meningitis, Experimental Pneumococcal"", ""Meningitis, Pneumococcal, Experimental"", ""Meningitis, Pneumococcal, Penicillin-Resistant"", ""Meningitis, Pnuemococcal, Recurrent"", ""Meningitis, Streptococcus pneumoniae"", ""Pneumococcal Meningitides"", ""Pneumococcal Meningitides, Experimental"", ""Pneumococcal Meningitis"", ""Pneumococcal Meningitis, Experimental"", ""Streptococcus pneumoniae Meningitides"", ""Streptococcus pneumoniae Meningitis""" """MeSH:D008586(Meningitis, Pneumococcal)"", ""SnoMedCT:51169003(Pneumococcal meningitis)"", ""UMLS:C0025295(C0025295)"", ""MedDRA:10027253(Meningitis pneumococcal)"", ""NDFRT:N0000001986(Meningitis, Pneumococcal [Disease/Finding])"", ""MONDO:MONDO:0006913(pneumococcal meningitis)""" +PA444924 Meningoencephalitis Cerebromeningitides, Cerebromeningitis, Encephalomeningitides, Encephalomeningitis, Meningoencephalitides MeSH:D008590(Meningoencephalitis), SnoMedCT:7125002(Meningoencephalitis), UMLS:C0025309(C0025309), MedDRA:10027282(Meningoencephalitis), NDFRT:N0000001990(Meningoencephalitis [Disease/Finding]), MONDO:MONDO:0005845(meningoencephalitis) +PA166048848 Menopause NDFRT:N0000010196(Menopause) +PA444926 Menopause, Premature """Menopauses, Premature"", ""Premature Menopause"", ""Premature Menopauses"", ""Premature menopause""" """MeSH:D008594(Menopause, Premature)"", ""SnoMedCT:373717006(Premature menopause)"", ""UMLS:C0025322(C0025322)"", ""MedDRA:10066271(Climacterium praecox)"", ""NDFRT:N0000001992(Menopause, Premature [Disease/Finding])"", ""MONDO:MONDO:0001119(premature menopause)""" +PA444927 Menorrhagia Flooding during periods, Heavy period, Heavy periods, Hypermenorrhea, Hypermenorrhoea, Profuse menstrual flow MeSH:D008595(Menorrhagia), SnoMedCT:386692008(Menorrhagia), UMLS:C0025323(C0025323), MedDRA:10005123(Bleeding menstrual heavy), NDFRT:N0000001993(Menorrhagia [Disease/Finding]), HP:HP:0000132(Menorrhagia) +PA447208 Mental Disorders """Mental disorder, NOS"", ""Mental disorders NOS""" MeSH:D001523(Mental Disorders), SnoMedCT:192639003(Mental disorders NOS), SnoMedCT:74732009(Mental disorder), UMLS:C0004936(C0004936), MedDRA:10061284(Mental disorder), NDFRT:N0000000538(Mental Disorders [Disease/Finding]), MONDO:MONDO:0002025(psychiatric disorder), MONDO:MONDO:0005084(mental disorder) +PA166048787 Mercury Poisoning """NDFRT:N0000004083(Mercury Poisoning, Nervous System)"", ""MONDO:MONDO:0018020(mercury poisoning)""" +PA166048869 Mesenteric Vascular Occlusion NDFRT:N0000002000(Mesenteric Vascular Occlusion), MONDO:MONDO:0006855(mesenteric vascular occlusion) +PA444937 Mesothelioma Mesotheliomas MeSH:D008654(Mesothelioma), UMLS:C0025500(Mesothelioma), MedDRA:10027406(Mesothelioma), NDFRT:N0000002003(Mesothelioma [Disease/Finding]), MONDO:MONDO:0002373(benign mesothelioma), MONDO:MONDO:0005065(mesothelioma), MONDO:MONDO:0006292(malignant mesothelioma) +PA443536 Metabolic Bone Disorder """Bone Disease, Metabolic"", ""Disease, Metabolic Bone"", ""Diseases, Metabolic Bone"", ""Metabolic Bone Disease"", ""Metabolic Bone Diseases"", ""Osteopenia"", ""Osteopenias""" """MeSH:D001851(Bone Diseases, Metabolic)"", ""SnoMedCT:50279003(Metabolic bone disease)"", ""UMLS:C0005944(C0005944)"", ""MedDRA:10058972(Bone metabolism disorder)"", ""NDFRT:N0000000588(Bone Diseases, Metabolic [Disease/Finding])"", ""MONDO:MONDO:0800486(metabolic bone disorder)""" +PA444938 Metabolic Diseases """Disease, Metabolic"", ""Diseases, Metabolic"", ""Disorder of metabolism NOS"", ""Generalised metabolic disorder"", ""MD - Metabolic disorders"", ""Metabolic Disease"", ""Thesaurismoses"", ""Thesaurismosis""" MeSH:D008659(Metabolic Diseases), SnoMedCT:267456000(Disorder of metabolism NOS), SnoMedCT:30390004(Generalised metabolic disorder), SnoMedCT:75934005(Metabolic disease), UMLS:C0025517(C0025517), MedDRA:10058097(Metabolic disorder), NDFRT:N0000002004(Metabolic Diseases [Disease/Finding]), MONDO:MONDO:0005066(metabolic disease) +PA162370415 Metabolic Syndrome """Cardiovascular Syndrome, Metabolic"", ""Cardiovascular Syndromes, Metabolic"", ""Insulin Resistance Syndrome X"", ""Insulin resistance syndrome"", ""Metabolic Cardiovascular Syndrome"", ""Metabolic Cardiovascular Syndromes"", ""Metabolic syndrome X"", ""Reaven Syndrome X"", ""Reaven's syndrome"", ""Syndrome X, Insulin Resistance"", ""Syndrome X, Metabolic"", ""Syndrome X, Reaven"", ""Syndrome, Metabolic Cardiovascular"", ""Syndromes, Metabolic Cardiovascular""" MeSH:D024821(Metabolic Syndrome), SnoMedCT:237602007(Metabolic syndrome X), UMLS:C0524620(C0524620), UMLS:C0948265(Metabolic syndrome), MedDRA:10052066(Metabolic syndrome), MedDRA:10052070(Metabolic syndrome X), NDFRT:N0000010963(Metabolic Syndrome X [Disease/Finding]), MONDO:MONDO:0011565(metabolic syndrome X) +PA444939 Metabolism, Inborn Errors """Error, Inborn Metabolism"", ""Errors Metabolism, Inborn"", ""Errors Metabolisms, Inborn"", ""Errors, Inborn Metabolism"", ""Inborn Errors Metabolism"", ""Inborn Errors Metabolisms"", ""Inborn Errors of Metabolism"", ""Inborn Metabolism Error"", ""Inborn Metabolism Errors"", ""Metabolism Error, Inborn"", ""Metabolism Errors, Inborn"", ""Metabolism Inborn Error"", ""Metabolism Inborn Errors"", ""Metabolism, Inborn Errors"", ""Metabolisms, Inborn Errors"", ""Steroid Metabolism, Inborn Errors""" """MeSH:D008661(Metabolism, Inborn Errors)"", ""SnoMedCT:86095007(Inborn error of metabolism)"", ""UMLS:C0025521(C0025521)"", ""MedDRA:10062018(Inborn error of metabolism)"", ""NDFRT:N0000002005(Metabolism, Inborn Errors [Disease/Finding])"", ""MONDO:MONDO:0019052(inborn errors of metabolism)""" +PA445058 Metastatic neoplasm """CA - Secondary cancer"", ""Metastases"", ""Metastases, Neoplasm"", ""Metastasis"", ""Metastasis, Neoplasm"", ""Metastatic cancer"", ""Metastatic malignant disease"", ""Metastatic neoplasm"", ""Neoplasm Metastases"", ""Neoplasm, metastatic"", ""Secondaries"", ""Secondary cancer"", ""Secondary malignant deposit"", ""Secondary malignant neoplastic disease"", ""Secondary tumor"", ""Secondary tumour"", ""Tumor embolus"", ""Tumor metastasis"", ""Tumor, metastatic"", ""Tumour embolus"", ""Tumour, metastatic"", ""Tumour, secondary""" """MeSH:D009362(Neoplasm Metastasis)"", ""SnoMedCT:128462008(Secondary malignant neoplastic disease)"", ""SnoMedCT:14799000(Neoplasm, metastatic)"", ""SnoMedCT:269622008(Secondary Ca NOS)"", ""UMLS:C0027627(C0027627)"", ""MedDRA:10027476(Metastases)"", ""NDFRT:N0000002124(Neoplasm Metastasis [Disease/Finding])"", ""MONDO:MONDO:0024883(metastatic neoplasm)""" +PA166119022 Methamphetamine dependence SnoMedCT:426873000(Methamphetamine dependence), MONDO:MONDO:0005419(methamphetamine dependence) +PA444942 Methemoglobinemia Methemoglobinemias MeSH:D008708(Methemoglobinemia), SnoMedCT:191393006(Methemoglobinemia NOS), SnoMedCT:38959009(Methemoglobinemia), UMLS:C0025637(C0025637), MedDRA:10027496(Methaemoglobinaemia), NDFRT:N0000002008(Methemoglobinemia [Disease/Finding]), MONDO:MONDO:0001117(methemoglobinemia), HP:HP:0012119(Methemoglobinemia) +PA162370428 Methylmalonic acidemia """Acidemia, Methylmalonic"", ""MMA - Methyl malonic acid"", ""MMA - Methylmalonic aciduria"", ""Methyl malonic acid"", ""Methylmalonic Acid"", ""Methylmalonic acidaemia"", ""Methylmalonic acidemia, NOS""" SnoMedCT:42393006(Methylmalonic acidemia), UMLS:C0268583(C0268583), MedDRA:10059521(Methylmalonic aciduria), MONDO:MONDO:0002012(methylmalonic acidemia), HP:HP:0002912(Methylmalonic acidemia) +PA444944 Microcephaly Microcephalies, Microcephalus, Microcephalus NOS MeSH:D008831(Microcephaly), SnoMedCT:1829003(Microcephalus), SnoMedCT:204031003(Microcephalus NOS), UMLS:C0025958(C0025958), MedDRA:10027532(Microcephalic), NDFRT:N0000002010(Microcephaly [Disease/Finding]), MONDO:MONDO:0001149(microcephaly), HP:HP:0000252(Microcephaly) +PA166180889 Microscopic polyangiitis Polyangiitides, Microscopic MeSH:D055953(Microscopic Polyangiitis), SnoMedCT:1144805008(microscopic polyangiitis), MedDRA:10063344(microscopic polyangiitis), MONDO:MONDO:0019124(microscopic polyangiitis) +PA166048901 Microsporidiosis NDFRT:N0000003498(Microsporidiosis), MONDO:MONDO:0005846(microsporidiosis) +PA165108685 Microstomia MeSH:D008865(Microstomia), SnoMedCT:14582003(Microstomia), UMLS:C0026034(C0026034), MedDRA:10027553(Microstomia), NDFRT:N0000002013(Microstomia [Disease/Finding]), HP:HP:0000160(Narrow mouth) +PA162372625 Microtia Congenital small ears SnoMedCT:35045004(Microtia), UMLS:C0152423(C0152423), MedDRA:10027555(Microtia), MONDO:MONDO:0010920(microtia), HP:HP:0008551(Microtia) +PA162355648 Microvillus inclusion disease MeSH:C537470(Microvillus inclusion disease), MONDO:MONDO:0009635(microvillus inclusion disease) +PA165108773 Midborderline leprosy BB - Borderline leprosy, Type BB leprosy MONDO:MONDO:0005125(borderline leprosy) +PA165108779 Migraine disorder Migraine, Migraine NOS MeSH:D008881(Migraine Disorders), SnoMedCT:193041007(Migraine NOS), UMLS:C0149931(C0149931), MedDRA:10027599(Migraine), NDFRT:N0000171630(Migraine Disorders [Disease/Finding]), MONDO:MONDO:0005277(migraine disorder) +PA447004 Migraine with Aura """Acute Onset Aura Migraine"", ""Basilar Migraine"", ""Basilar Migraines"", ""Classic Migraine"", ""Classical Migraine"", ""Classical Migraines"", ""Classical migraine"", ""Familial Hemiplegic Migraine"", ""Familial Hemiplegic Migraines"", ""Hemiplegic Migraine, Familial"", ""Hemiplegic Migraines, Familial"", ""Migraine Aura without Headache"", ""Migraine with Acute Onset Aura"", ""Migraine with Aura"", ""Migraine with Auras"", ""Migraine with Prolonged Aura"", ""Migraine with Typical Aura"", ""Migraine with aura"", ""Migraine, Basilar"", ""Migraine, Classic"", ""Migraine, Classical"", ""Migraine, Prolonged Aura"", ""Prolonged Aura Migraine"", ""Prolonged Aura Migraines""" MeSH:D020325(Migraine with Aura), SnoMedCT:4473006(Migraine with aura), UMLS:C0154723(C0154723), MedDRA:10027601(Migraine aura), NDFRT:N0000171631(Migraine with Aura [Disease/Finding]), MONDO:MONDO:0005475(migraine with aura), HP:HP:0002077(Migraine with aura) +PA444949 Migraine without Aura """Abdominal Migraine"", ""Abdominal Migraines"", ""Acute Confusional Migraine"", ""Acute Confusional Migraines"", ""Cervical Migraine Syndrome"", ""Cervical Migraine Syndromes"", ""Common Migraine"", ""Common Migraines"", ""Complicated Migraine"", ""Complicated Migraines"", ""Headache, Migraine"", ""Headache, Sick"", ""Headaches, Migraine"", ""Headaches, Sick"", ""Hemicrania"", ""Hemicrania Migraine"", ""Hemicrania Migraines"", ""Migraine"", ""Migraine Headache"", ""Migraine Headaches"", ""Migraine Syndrome, Cervical"", ""Migraine Syndromes, Cervical"", ""Migraine Variant"", ""Migraine Variants"", ""Migraine without Aura"", ""Migraine, Abdominal"", ""Migraine, Acute Confusional"", ""Migraine, Common"", ""Migraine, Complicated"", ""Migraine, Hemicrania"", ""Migraines"", ""Migraines, Abdominal"", ""Migraines, Acute Confusional"", ""Migraines, Common"", ""Migraines, Complicated"", ""Migraines, Hemicrania"", ""Sick Headache"", ""Sick Headaches"", ""Sick headache"", ""Status Migrainosus"", ""Variant, Migraine"", ""Variants, Migraine""" """MeSH:D020326(Migraine without Aura)"", ""SnoMedCT:193029000(Common migraine NOS)"", ""SnoMedCT:56097005(Migraine without aura)"", ""UMLS:C0338480(C0338480)"", ""MedDRA:10010108(Common migraine)"", ""NDFRT:N0000171632(Migraine without Aura [Disease/Finding])"", ""MONDO:MONDO:0011847(migraine without aura, susceptibility to, 4)"", ""MONDO:MONDO:0100431(migraine without aura)"", ""HP:HP:0002083(Migraine without aura)""" +PA446261 Miosis """Constricted Pupil"", ""Constricted Pupils"", ""Mioses"", ""Mioses, Persistent"", ""Mioses, Pupillary"", ""Miosis, Persistent"", ""Miosis, Pupillary"", ""Persistent Mioses"", ""Persistent Miosis"", ""Pupil, Constricted"", ""Pupil, Small"", ""Pupillary Mioses"", ""Pupillary Miosis"", ""Pupils, Constricted"", ""Pupils, Small"", ""Small Pupil"", ""Small Pupils""" MeSH:D015877(Miosis), SnoMedCT:63251006(Persistent miosis), UMLS:C0026205(C0026205), MedDRA:10027646(Miosis), NDFRT:N0000003350(Miosis [Disease/Finding]), HP:HP:0000616(Miosis) +PA166328441 Missed dose SnoMedCT:1269470004(Missed dose), SnoMedCT:C1709043(Missed dose), MedDRA:10074624(Missed dose) +PA447172 Mitochondrial Diseases """Deficiencies, Oxidative Phosphorylation"", ""Deficiencies, Respiratory Chain"", ""Deficiency, Oxidative Phosphorylation"", ""Deficiency, Respiratory Chain"", ""Disease, Mitochondrial"", ""Disorder, Mitochondrial"", ""Disorders, Mitochondrial"", ""Electron Transport Chain Deficiencies, Mitochondrial"", ""Mitochondrial Disease"", ""Mitochondrial Disorder"", ""Mitochondrial Disorders"", ""Mitochondrial Electron Transport Chain Deficiencies"", ""Mitochondrial Respiratory Chain Deficiencies"", ""Oxidative Phosphorylation Deficiencies"", ""Oxidative Phosphorylation Deficiency"", ""Phosphorylation Deficiencies, Oxidative"", ""Phosphorylation Deficiency, Oxidative"", ""Respiratory Chain Deficiencies, Mitochondrial"", ""Respiratory Chain Deficiency""" MeSH:D028361(Mitochondrial Diseases), UMLS:C0751651(Mitochondrial Diseases [Disease/Finding]), NDFRT:N0000010931(Mitochondrial Diseases [Disease/Finding]), MONDO:MONDO:0004069(inborn mitochondrial metabolism disorder) +PA446467 Mitochondrial Encephalomyopathies """Encephalomyopathies"", ""Encephalomyopathies, Mitochondrial"", ""Encephalomyopathy, Mitochondrial"", ""Mitochondrial Encephalomyopathy""" MeSH:D017237(Mitochondrial Encephalomyopathies), UMLS:C0162666(Mitochondrial Encephalomyopathies [Disease/Finding]), NDFRT:N0000003558(Mitochondrial Encephalomyopathies [Disease/Finding]), MONDO:MONDO:0004675(mitochondrial encephalomyopathy) +PA447209 Mood Disorder MeSH:D019964(Mood Disorders), SnoMedCT:46206005(Mood disorder), UMLS:C0525045(C0525045), MedDRA:10001437(Affecive disorder NOS), NDFRT:N0000003975(Mood Disorders [Disease/Finding]), MONDO:MONDO:0005371(mood disorder) +PA444965 Morphine Dependence """Abuse, Morphine"", ""Addiction, Morphine"", ""Dependence, Morphine"", ""Morphine Abuse"", ""Morphine Addiction"", ""Morphine User"", ""Morphine Users"", ""Morphine dependence"", ""User, Morphine"", ""Users, Morphine""" MeSH:D009021(Morphine Dependence), SnoMedCT:231479000(Morphine dependence), UMLS:C0026552(C0026552), NDFRT:N0000002030(Morphine Dependence [Disease/Finding]), MONDO:MONDO:0005531(morphine dependence) +PA165108423 Mossy foot disease MeSH:D002862(Chromoblastomycosis), SnoMedCT:252402000(Mossy foot disease), UMLS:C0008582(C0008582), MedDRA:10008803(Chromoblastomycosis), NDFRT:N0000000782(Chromoblastomycosis [Disease/Finding]), MONDO:MONDO:0015908(chromomycosis) +PA444966 Motion Sickness """Airsickness"", ""Carsickness"", ""Motion sickness NOS"", ""Motion sickness, NOS"", ""Riders' vertigo"", ""Seasickness"", ""Sickness, Motion"", ""Travel sickness""" """MeSH:D009041(Motion Sickness)"", ""SnoMedCT:212974006(Motion sickness NOS)"", ""SnoMedCT:269278001(Travel sickness, unspecified)"", ""SnoMedCT:37031009(Motion sickness)"", ""UMLS:C0026603(C0026603)"", ""MedDRA:10027990(Motion sickness)"", ""NDFRT:N0000002031(Motion Sickness [Disease/Finding])"", ""MONDO:MONDO:0008015(motion sickness)""" +PA446329 Motor Neuron Disease """Anterior Horn Cell Disease"", ""Familial Motor Neuron Disease"", ""Lateral Scleroses"", ""Lateral Scleroses, Primary"", ""Lateral Sclerosis"", ""Lateral Sclerosis, Primary"", ""Lower Motor Neuron Disease"", ""MND - Motor neurone disease"", ""Motor Neuron Disease, Familial"", ""Motor Neuron Disease, Lower"", ""Motor Neuron Disease, Secondary"", ""Motor Neuron Disease, Upper"", ""Motor Neuron Diseases"", ""Motor System Disease"", ""Motor System Diseases"", ""Motor neuron disease"", ""Motor neuron disease, NOS"", ""Motor neurone disease"", ""Motor neurone disease NOS"", ""Neuron Disease, Motor"", ""Neuron Diseases, Motor"", ""Primary Lateral Scleroses"", ""Primary Lateral Sclerosis"", ""Scleroses, Lateral"", ""Scleroses, Primary Lateral"", ""Sclerosis, Lateral"", ""Sclerosis, Primary Lateral"", ""Secondary Motor Neuron Disease"", ""Upper Motor Neuron Disease""" MeSH:D016472(Motor Neuron Disease), SnoMedCT:192890000(Motor neurone disease NOS), SnoMedCT:37340000(Motor neuron disease), UMLS:C0085084(C0085084), MedDRA:10028002(Motor neuron disease), NDFRT:N0000003418(Motor Neuron Disease [Disease/Finding]), MONDO:MONDO:0003182(anterior horn disorder), MONDO:MONDO:0020128(motor neuron disorder) +PA444974 Movement Disorders """Dyskinesia Syndrome"", ""Dyskinesia Syndromes"", ""Etat Marbre"", ""Movement Disorder"", ""Movement Disorder Syndrome"", ""Movement Disorder Syndromes"", ""Movement disorder, NOS"", ""Status Marmoratus""" MeSH:D009069(Movement Disorders), SnoMedCT:60342002(Movement disorder), UMLS:C0026650(C0026650), MedDRA:10013927(Dyskinesia syndrome), NDFRT:N0000002039(Movement Disorders [Disease/Finding]), MONDO:MONDO:0005395(movement disorder) +PA152238063 Mowat-Wilson Syndrome MeSH:C536990(Mowat-Wilson syndrome), MONDO:MONDO:0009341(Mowat-Wilson syndrome) +PA444975 Moyamoya Disease """Cerebrovascular Moyamoya Disease"", ""Classic Moyamoya Disease"", ""Disease, Classic Moyamoya"", ""Disease, Moya-Moya"", ""Disease, Primary Moyamoya"", ""Moya Moya Disease"", ""Moya-Moya Disease"", ""Moyamoya Disease, Classic"", ""Moyamoya Disease, Primary"", ""Moyamoya Disease, Secondary"", ""Moyamoya Diseases, Primary"", ""Moyamoya Syndrome"", ""Primary Moyamoya Disease"", ""Primary Moyamoya Diseases"", ""Progressive Intracranial Occlusive Arteropathy (Moyamoya)"", ""Progressive intracranial arterial occlusion"", ""Secondary Moyamoya Disease"", ""Taveras' syndrome""" MeSH:D009072(Moyamoya Disease), SnoMedCT:69116000(Moyamoya disease), SnoMedCT:89142007(Progressive intracranial arterial occlusion), UMLS:C0026654(C0026654), MedDRA:10028047(Moyamoya disease), NDFRT:N0000002040(Moyamoya Disease [Disease/Finding]), MONDO:MONDO:0016820(Moyamoya disease) +PA165108915 Mucocutaneous-lymphangitic paracoccidioidomycosis Mucocutaneous South American blastomycosis MeSH:D010229(Paracoccidioidomycosis), SnoMedCT:36866003(Mucocutaneous-lymphangitic paracoccidioidomycosis), UMLS:C0030409(C0030409), MedDRA:10061906(Paracoccidioides infection), NDFRT:N0000002298(Paracoccidioidomycosis [Disease/Finding]), MONDO:MONDO:0005894(paracoccidioidomycosis) +PA444977 Mucocutaneous Lymph Node Syndrome """Acute febrile mucocutaneous lymph node syndrome"", ""Disease, Kawasaki"", ""Kawasaki Disease"", ""Kawasaki disease"", ""Kawasaki syndrome"", ""Kawasaki's disease"", ""Kawasaki's syndrome"", ""Lymph Node Syndrome, Mucocutaneous"", ""MCLS"", ""MLNS"", ""Mucocutaneous lymph node syndrome""" MeSH:D009080(Mucocutaneous Lymph Node Syndrome), SnoMedCT:195349001(Acute febrile mucocutaneous lymph node syndrome NOS), SnoMedCT:75053002(Acute febrile mucocutaneous lymph node syndrome), UMLS:C0026691(C0026691), MedDRA:10000747(Acute febrile mucocutaneous lymph node syndrome (MCLS)), NDFRT:N0000002042(Mucocutaneous Lymph Node Syndrome [Disease/Finding]), MONDO:MONDO:0012727(mucocutaneous lymph node syndrome) +PA444978 Mucolipidoses """Cherry Red Spot Myoclonus Syndrome"", ""Deficiency Disease, Ganglioside Sialidase"", ""Disease, I-Cell"", ""Disease, Inclusion Cell"", ""Disease, Psuedo-Hurler"", ""Diseases, I-Cell"", ""Diseases, Inclusion Cell"", ""Diseases, Psuedo-Hurler"", ""Ganglioside Sialidase Deficiency Disease"", ""I Cell Disease"", ""I-Cell Disease"", ""IIIs, Mucolipidosis"", ""Inclusion Cell Disease"", ""Inclusion Cell Diseases"", ""Lipomucopolysaccharidoses"", ""Lipomucopolysaccharidosis"", ""Mucolipidose"", ""Mucolipidoses, Type I"", ""Mucolipidoses, Type II"", ""Mucolipidoses, Type III"", ""Mucolipidoses, Type IV"", ""Mucolipidosis"", ""Mucolipidosis I"", ""Mucolipidosis II"", ""Mucolipidosis III"", ""Mucolipidosis IIIs"", ""Mucolipidosis IV"", ""Mucolipidosis Type I"", ""Mucolipidosis Type II"", ""Mucolipidosis Type III"", ""Mucolipidosis Type IV"", ""Mucolipidosis, NOS"", ""Mucolipidosis, Type I"", ""Mucolipidosis, Type II"", ""Mucolipidosis, Type III"", ""Mucolipidosis, Type IV"", ""Myoclonus Cherry Red Spot Syndrome"", ""Polydystrophy, Pseudo-Hurler"", ""Pseudo Hurler Polydystrophy"", ""Pseudo-Hurler Polydystrophy"", ""Psuedo Hurler Disease"", ""Psuedo-Hurler Disease"", ""Psuedo-Hurler Diseases"", ""Sialidoses"", ""Sialidosis"", ""Type I Mucolipidoses"", ""Type I Mucolipidosis"", ""Type II Mucolipidoses"", ""Type II Mucolipidosis"", ""Type III Mucolipidoses"", ""Type III Mucolipidosis"", ""Type IV Mucolipidoses"", ""Type IV Mucolipidosis""" MeSH:D009081(Mucolipidoses), SnoMedCT:70528007(Mucolipidosis), UMLS:C0026697(C0026697), NDFRT:N0000002043(Mucolipidoses [Disease/Finding]), MONDO:MONDO:0019248(mucolipidosis) +PA444784 Mucopolysaccharidosis I """Disease, Hurler"", ""Disease, Hurler's"", ""Gargoylism, Hurler Syndrome"", ""Hurler Disease"", ""Hurler Scheie Syndrome"", ""Hurler Syndrome"", ""Hurler Syndrome Gargoylism"", ""Hurler's Disease"", ""Hurler's Syndrome"", ""Hurler-Scheie Syndrome"", ""Hurlers Disease"", ""Hurlers Syndrome"", ""Is, Mucopolysaccharidosis"", ""Lipochondrodystrophies"", ""Lipochondrodystrophy"", ""MPS I H"", ""MPS I H-S"", ""MPS I S"", ""Mucopolysaccharidosis 1"", ""Mucopolysaccharidosis 5"", ""Mucopolysaccharidosis Is"", ""Mucopolysaccharidosis V"", ""Mucopolysaccharidosis, MPS-I"", ""Pfaundler Hurler Syndrome"", ""Pfaundler-Hurler Syndrome"", ""Scheie Syndrome"", ""Scheie's Syndrome"", ""Scheies Syndrome"", ""Syndrome, Hurler's"", ""Syndrome, Hurler-Scheie"", ""Syndrome, Pfaundler-Hurler"", ""Syndrome, Scheie's""" """MeSH:D008059(Mucopolysaccharidosis I)"", ""SnoMedCT:75610003(Mucopolysaccharidosis, MPS-I)"", ""UMLS:C0023786(C0023786)"", ""MedDRA:10056886(Mucopolysaccharidosis I)"", ""NDFRT:N0000001849(Mucopolysaccharidosis I [Disease/Finding])"", ""MONDO:MONDO:0001586(mucopolysaccharidosis type 1)"", ""MONDO:MONDO:0019249(mucopolysaccharidosis)""" +PA166122058 Mucositis Mucositides MeSH:D052016(Mucositis), MedDRA:10028127(mucositis), MONDO:MONDO:0020579(mucositis) +PA446558 Multidrug-resistant tuberculosis """Drug-Resistant Tuberculosis"", ""MDR Tuberculosis"", ""Multi-Drug Resistant Tuberculosis"", ""Multidrug resistant tuberculosis"", ""Multidrug-Resistant Tuberculosis"", ""Tuberculosis, Drug Resistant"", ""Tuberculosis, Drug-Resistant"", ""Tuberculosis, MDR"", ""Tuberculosis, Multi Drug Resistant"", ""Tuberculosis, Multi-Drug Resistant"", ""Tuberculosis, Multidrug Resistant""" """MeSH:D018088(Tuberculosis, Multidrug-Resistant)"", ""SnoMedCT:423092005(Multidrug resistant tuberculosis)"", ""UMLS:C0206526(C0206526)"", ""NDFRT:N0000003649(Tuberculosis, Multidrug-Resistant [Disease/Finding])"", ""MONDO:MONDO:0005861(multidrug-resistant tuberculosis)""" +PA166325683 multiple acyl-coa dehydrogenase deficiency """EMA"", ""Etfa deficiency"", ""Etfb deficiency"", ""Etfdh deficiency"", ""Ga 2"", ""MAD deficiency"", ""MADD"", ""electron transfer flavoprotein deficiency"", ""electron transfer flavoprotein ubiquinone oxidoreductase deficiency"", ""ethylmalonic-Adipicaciduria"", ""glutaric acidemia 2"", ""glutaric acidemia 2A"", ""glutaric acidemia 2B"", ""glutaric acidemia 2C"", ""glutaric acidemia IIA"", ""glutaric acidemia IIB"", ""glutaric acidemia IIC"", ""glutaric acidemia type 2"", ""glutaric acidemia type II"", ""glutaric aciduria 2"", ""glutaric aciduria type 2"", ""glutaric aciduria, type 2"", ""multiple acyl Coenzyme A dehydrogenase deficiency"", ""multiple acyl-CoA dehydrogenase deficiency""" MONDO:MONDO:0009282(multiple acyl-CoA dehydrogenase deficiency) +PA446760 Multiple Endocrine Neoplasia Type 1 """MEA 1"", ""MEA I"", ""MEN 1"", ""MEN 1 - Multiple endocrine neoplasia syndrome type 1"", ""MEN 1 syndrome"", ""MEN I"", ""MEN, type 1"", ""MEN1"", ""Multiple Endocrine Neoplasia Type I"", ""Multiple Endocrine Neoplasms Type 1"", ""Multiple endocrine neoplasia, type 1"", ""Neoplasia, Multiple Endocrine Type 1"", ""Neoplasms, Multiple Endocrine Type 1"", ""Neoplasms, Multiple Endocrine Type I"", ""Wermer Syndrome"", ""Wermer syndrome""" """MeSH:D018761(Multiple Endocrine Neoplasia Type 1)"", ""SnoMedCT:30664006(Multiple endocrine neoplasia, type 1)"", ""UMLS:C0025267(C0025267)"", ""MedDRA:10026979(MEA Type I)"", ""NDFRT:N0000003850(Multiple Endocrine Neoplasia Type 1 [Disease/Finding])"", ""MONDO:MONDO:0007540(multiple endocrine neoplasia type 1)""" +PA446772 Multiple Endocrine Neoplasia Type 2a """MEA 2a"", ""MEA II"", ""MEA IIa"", ""MEN 2"", ""MEN 2a"", ""MEN II"", ""MEN IIa"", ""MEN2a"", ""Multiple Endocrine Neoplasms Type 2a"", ""Neoplasia, Multiple Endocrine Type 2a"", ""Neoplasms, Multiple Endocrine Type 2a"", ""Sipple Syndrome""" """MeSH:D018813(Multiple Endocrine Neoplasia Type 2a)"", ""SnoMedCT:61808009(Multiple endocrine neoplasia, type 2)"", ""UMLS:C0025268(C0025268)"", ""MedDRA:10026980(MEA Type II)"", ""NDFRT:N0000003862(Multiple Endocrine Neoplasia Type 2a [Disease/Finding])"", ""MONDO:MONDO:0008234(multiple endocrine neoplasia type 2A)""" +PA446773 Multiple Endocrine Neoplasia Type 2b """MEA 2b"", ""MEA IIb"", ""MEN 2b"", ""MEN 3"", ""MEN 3 - Multiple endocrine neoplasia type 3"", ""MEN III"", ""MEN IIb"", ""MEN2b"", ""Mucosal Neuroma Syndrome"", ""Mucosal Neuroma Syndromes"", ""Mucosal neuroma syndrome"", ""Multiple Endocrine Neoplasms Type 2b"", ""Multiple endocrine neoplasia, type 3"", ""Neoplasia, Multiple Endocrine, Type 2b"", ""Neoplasms, Multiple Endocrine, Type 2b"", ""Neuroma Syndrome, Mucosal"", ""Neuroma Syndromes, Mucosal""" """MeSH:D018814(Multiple Endocrine Neoplasia Type 2b)"", ""SnoMedCT:61530001(Multiple endocrine neoplasia, type 3)"", ""UMLS:C0025269(C0025269)"", ""MedDRA:10056420(Multiple endocrine adenomatosis Type IIb)"", ""NDFRT:N0000003863(Multiple Endocrine Neoplasia Type 2b [Disease/Finding])"", ""MONDO:MONDO:0008082(multiple endocrine neoplasia type 2B)""" +PA444985 Multiple Myeloma """Kahler's disease"", ""Multiple Myelomas"", ""Multiple myeloma"", ""Multiple myeloma (clinical)"", ""Multiple myeloma, no ICD-O subtype"", ""Myeloma"", ""Myeloma, Multiple"", ""Myeloma, Plasma Cell"", ""Myeloma, Plasma-Cell"", ""Myelomas, Multiple"", ""Myelomas, Plasma-Cell"", ""Myelomatosis"", ""Plasma-Cell Myeloma"", ""Plasma-Cell Myelomas"", ""Plasmacytic myeloma""" """MeSH:D009101(Multiple Myeloma)"", ""SnoMedCT:109989006(Multiple myeloma)"", ""SnoMedCT:55921005(Multiple myeloma, no ICD-O subtype)"", ""UMLS:C0026764(C0026764)"", ""MedDRA:10028228(Multiple myeloma)"", ""NDFRT:N0000002050(Multiple Myeloma [Disease/Finding])"", ""MONDO:MONDO:0009693(plasma cell myeloma)"", ""HP:HP:0006775(Multiple myeloma)""" +PA152238425 Multiple Pterygium Syndrome SnoMedCT:205819008(Multiple pterygium syndrome), UMLS:C0265261(C0265261), MONDO:MONDO:0017415(multiple pterygium syndrome) +PA444987 Multiple Sclerosis """DS - Disseminated sclerosis"", ""Disseminated Sclerosis"", ""Disseminated sclerosis"", ""Generalised multiple sclerosis"", ""Generalized multiple sclerosis"", ""MS (Multiple Sclerosis)"", ""MS - Multiple sclerosis"", ""Multiple Sclerosis, Acute Fulminating"", ""Multiple sclerosis"", ""Multiple sclerosis NOS"", ""Sclerosis, Disseminated"", ""Sclerosis, Multiple""" MeSH:D009103(Multiple Sclerosis), SnoMedCT:192928003(Generalized multiple sclerosis), SnoMedCT:192930001(Multiple sclerosis NOS), SnoMedCT:24700007(Multiple sclerosis), UMLS:C0026769(C0026769), MedDRA:10039720(Sclerosis multiple), NDFRT:N0000002052(Multiple Sclerosis [Disease/Finding]), MONDO:MONDO:0005301(multiple sclerosis) +PA145007166 Multiple synostosis syndrome Multiple-Synostosis Syndrome SnoMedCT:62628008(Multiple synostosis syndrome), UMLS:C0175700(C0175700), MONDO:MONDO:0008518(calcaneonavicular coalition) +PA446851 Multiple System Atrophy """Atrophies, Multisystem"", ""Atrophies, Multisystemic"", ""Atrophy, Multiple System"", ""Atrophy, Multisystem"", ""Atrophy, Multisystemic"", ""MSA - Multiple system atrophy"", ""Multiple System Atrophies"", ""Multiple System Atrophy Syndrome"", ""Multiple system atrophy"", ""Multisystem Atrophies"", ""Multisystem Atrophy"", ""Multisystemic Atrophies"", ""Multisystemic Atrophy""" MeSH:D019578(Multiple System Atrophy), SnoMedCT:230297002(Multiple system atrophy), UMLS:C0393571(C0393571), MedDRA:10064060(Multiple system atrophy), NDFRT:N0000003942(Multiple System Atrophy [Disease/Finding]), MONDO:MONDO:0007803(multiple system atrophy) +PA444989 Mumps """Epidemic Parotitides"", ""Epidemic Parotitis"", ""Epidemic parotitis"", ""Infectious parotitis"", ""Mumps parotitis"", ""Mumps without mention of complication"", ""Mumps, NOS"", ""Parotitides, Epidemic"", ""Parotitis, Epidemic""" MeSH:D009107(Mumps), SnoMedCT:240526004(Mumps parotitis), SnoMedCT:36989005(Mumps), UMLS:C0026780(C0026780), MedDRA:10009300(Clinical mumps), NDFRT:N0000002055(Mumps [Disease/Finding]), MONDO:MONDO:0000989(mumps infectious disease) +PA444992 Muscle Hypotonia """Decreased Muscle Tone"", ""Decreased muscle tone"", ""Flaccid Muscle Tone"", ""Flaccidity, Muscle"", ""Flaccidity, Muscular"", ""Floppy Muscle"", ""Floppy Muscles"", ""Hypomyotonia"", ""Hypotonia"", ""Hypotonia, Muscle"", ""Hypotonia, Muscular"", ""Hypotonia, Neonatal"", ""Hypotonia, Unilateral"", ""Hypotonias, Neonatal"", ""Hypotonias, Unilateral"", ""Hypotonus"", ""Hypotony, Muscle"", ""Loose muscle tone"", ""Muscle Flaccidity"", ""Muscle Hypotony"", ""Muscle Tone Atonic"", ""Muscle Tone Atonics"", ""Muscle Tone Poor"", ""Muscle Tone, Decreased"", ""Muscle Tone, Flaccid"", ""Muscle hypotonia"", ""Muscle hypotonicity"", ""Muscle, Floppy"", ""Muscles, Floppy"", ""Muscular Flaccidities"", ""Muscular Flaccidity"", ""Muscular Hypotonia"", ""Neonatal Hypotonia"", ""Neonatal Hypotonias"", ""Poor muscle tone"", ""Tone Atonic, Muscle"", ""Tone Poor, Muscle"", ""Unilateral Hypotonia""" MeSH:D009123(Muscle Hypotonia), SnoMedCT:398151007(Decreased muscle tone), SnoMedCT:398152000(Poor muscle tone), UMLS:C0026827(C0026827), MedDRA:10011973(Decreased muscle tone), NDFRT:N0000002059(Muscle Hypotonia [Disease/Finding]), HP:HP:0001252(Hypotonia) +PA444993 Muscle Rigidity """Catatonic Rigidity"", ""Cogwheel Rigidities"", ""Cogwheel Rigidity"", ""Extensor Rigidity"", ""Extrapyramidal Rigidity"", ""Gegenhalten"", ""Gegenhaltens"", ""Muscle stiffness"", ""Muscular Rigidity"", ""Muscular stiffness"", ""Nuchal Rigidity"", ""Rigidities, Cogwheel"", ""Rigidity"", ""Rigidity, Catatonic"", ""Rigidity, Cogwheel"", ""Rigidity, Extensor"", ""Rigidity, Extrapyramidal"", ""Rigidity, Muscle"", ""Rigidity, Muscular"", ""Rigidity, NOS"", ""Rigidity, Nuchal""" MeSH:D009127(Muscle Rigidity), SnoMedCT:16046003(Muscle rigidity), UMLS:C0026837(C0026837), MedDRA:10028330(Muscle rigidity), NDFRT:N0000002060(Muscle Rigidity [Disease/Finding]), HP:HP:0002063(Rigidity) +PA444990 Muscle spasm """Cramp"", ""Cramp, Limb"", ""Cramp, Muscle"", ""Cramp, Muscular"", ""Cramp, NOS"", ""Cramps"", ""Cramps, Limb"", ""Cramps, Muscle"", ""Cramps, Muscular"", ""Limb Cramp"", ""Limb Cramps"", ""Muscle Cramps"", ""Muscular Cramp"", ""Muscular Cramps""" MeSH:D009120(Muscle Cramp), SnoMedCT:55300003(Cramp), UMLS:C0026821(C0026821), MedDRA:10011285(Cramp), NDFRT:N0000002057(Muscle Cramp [Disease/Finding]), HP:HP:0003394(Muscle spasm) +PA444994 Muscle Spasticity """Clasp Knife Spasticity"", ""Clasp-Knife Spasticity"", ""Muscle spasm - tone"", ""Muscle spasticity"", ""Muscular spasticity"", ""Spastic"", ""Spasticity"", ""Spasticity, Clasp-Knife"", ""Spasticity, Muscle""" MeSH:D009128(Muscle Spasticity), SnoMedCT:221360009(Spasticity), SnoMedCT:397790002(Spasticity), UMLS:C0026838(C0026838), MedDRA:10028335(Muscle spasticity), NDFRT:N0000002061(Muscle Spasticity [Disease/Finding]), HP:HP:0001257(Spasticity) +PA446788 Muscle Weakness """Incomplete paralysis"", ""Muscle Weaknesses"", ""Muscle weakness"", ""Muscular Weakness"", ""Muscular Weaknesses"", ""Paresis"", ""Paresis, NOS"", ""Weakness, Muscle"", ""Weakness, Muscular"", ""Weaknesses, Muscle"", ""Weaknesses, Muscular""" MeSH:D018908(Muscle Weakness), SnoMedCT:26544005(Muscle weakness), UMLS:C0151786(C0151786), MedDRA:10028350(Muscle weakness), NDFRT:N0000003878(Muscle Weakness [Disease/Finding]), HP:HP:0001324(Muscle weakness) +PA444997 Muscular Diseases Disorder of muscle, Muscle Disorder, Muscle Disorders, Muscular Disease, Myopathic Condition, Myopathic Conditions, Myopathies, Myopathy MeSH:D009135(Muscular Diseases), SnoMedCT:129565002(Disorder of muscle), UMLS:C0026848(C0026848), MedDRA:10013237(Disorder muscle), NDFRT:N0000002064(Muscular Diseases [Disease/Finding]), MONDO:MONDO:0003939(muscle tissue disorder), MONDO:MONDO:0020120(skeletal muscle disorder) +PA444998 Muscular Dystrophies """Distal Myopathies"", ""Distal Myopathy"", ""Dystrophies, Limb-Girdle Muscular"", ""Dystrophies, Muscular"", ""Dystrophies, Oculopharyngeal Muscular"", ""Dystrophies, Scapuloperoneal Muscular"", ""Dystrophy, Limb-Girdle Muscular"", ""Dystrophy, Muscular"", ""Dystrophy, Oculopharyngeal Muscular"", ""Dystrophy, Scapuloperoneal Muscular"", ""Hereditary progressive muscular dystrophy"", ""Hereditary progressive muscular dystrophy NOS"", ""Limb-Girdle Muscular Dystrophies"", ""Limb-Girdle Muscular Dystrophy"", ""MD - Muscular dystrophy"", ""Muscular Dystrophies, Limb-Girdle"", ""Muscular Dystrophies, Oculopharyngeal"", ""Muscular Dystrophies, Scapuloperoneal"", ""Muscular Dystrophy"", ""Muscular Dystrophy, Limb Girdle"", ""Muscular Dystrophy, Limb-Girdle"", ""Muscular Dystrophy, Oculopharyngeal"", ""Muscular Dystrophy, Scapuloperoneal"", ""Muscular dystrophy, NOS"", ""Myodystrophica"", ""Myodystrophicas"", ""Myodystrophies"", ""Myodystrophy"", ""Myopathies, Distal"", ""Myopathy, Distal"", ""Oculopharyngeal Muscular Dystrophies"", ""Oculopharyngeal Muscular Dystrophy"", ""Scapuloperoneal Muscular Dystrophies"", ""Scapuloperoneal Muscular Dystrophy""" MeSH:D009136(Muscular Dystrophies), SnoMedCT:193225000(Hereditary progressive muscular dystrophy), SnoMedCT:193236007(Hereditary progressive muscular dystrophy NOS), SnoMedCT:73297009(Muscular dystrophy), UMLS:C0026850(C0026850), MedDRA:10019897(Hereditary progressive muscular dystrophy), NDFRT:N0000002065(Muscular Dystrophies [Disease/Finding]), MONDO:MONDO:0020121(muscular dystrophy) +PA445001 Musculoskeletal Diseases """Disease of the musculoskeletal system, NOS"", ""Disease, Musculoskeletal"", ""Diseases, Musculoskeletal"", ""Disorder of musculoskeletal system"", ""Disorder of the musculoskeletal system, NOS"", ""Musculo-skeletal disorder NOS"", ""Musculoskeletal Disease"", ""Musculoskeletal disorder""" MeSH:D009140(Musculoskeletal Diseases), SnoMedCT:274149006(Musculo-skeletal disorder NOS), SnoMedCT:928000(Disorder of musculoskeletal system), UMLS:C0026857(C0026857), MedDRA:10048592(Musculoskeletal disorder), NDFRT:N0000002067(Musculoskeletal Diseases [Disease/Finding]), MONDO:MONDO:0002081(musculoskeletal system disorder) +PA166122208 Musculoskeletal pain """Musculoskeletal Pains"", ""Pain, Musculoskeletal"", ""Pains, Musculoskeletal""" MeSH:D059352(Musculoskeletal Pain), SnoMedCT:279069000(Musculoskeletal pain), MedDRA:10028391(Musculoskeletal pain) +PA157379134 Myalgia Muscle ache, Muscle pain, Myalgia SnoMedCT:268010003(Myalgia unspecified), UMLS:C0231528(C0231528), MedDRA:10028287(Muscle ache), HP:HP:0003326(Myalgia) +PA445004 Myasthenia Gravis """Generalized Myasthenia Gravis"", ""MG - Myasthenia gravis"", ""Myasthenia Gravis, Generalized"", ""Myasthenia Gravis, Ocular"", ""Myasthenia gravis"", ""Myasthenia gravis NOS"", ""Ocular Myasthenia Gravis""" MeSH:D009157(Myasthenia Gravis), SnoMedCT:193208002(Myasthenia gravis NOS), SnoMedCT:91637004(Myasthenia gravis), UMLS:C0026896(C0026896), MedDRA:10028417(Myasthenia gravis), NDFRT:N0000002070(Myasthenia Gravis [Disease/Finding]), MONDO:MONDO:0009688(myasthenia gravis) +PA165108143 Mycobacterial infection MONDO:MONDO:0020590(mycobacterial infectious disease) +PA128407009 Mycobacterium Infections Buruli Ulcer, Infection due to mycobacteria, Mycobacterial disease NOS, Mycobacterial infections, Mycobacteriosis MeSH:D009164(Mycobacterium Infections), SnoMedCT:186345003(Mycobacterial disease NOS), SnoMedCT:88415009(Mycobacteriosis), UMLS:C0026918(C0026918), MedDRA:10062207(Mycobacterial infection), NDFRT:N0000002071(Mycobacterium Infections [Disease/Finding]), MONDO:MONDO:0020590(mycobacterial infectious disease) +PA445010 Mycosis Fungoides MF - Mycosis fungoides, Mycosis fungoides, Mycosis fungoides (clinical), Mycosis fungoides NOS, Pagetoid reticulosis MeSH:D009182(Mycosis Fungoides), SnoMedCT:118618005(Mycosis fungoides (clinical)), SnoMedCT:188618003(Mycosis fungoides of unspecified site), SnoMedCT:188628007(Mycosis fungoides NOS), SnoMedCT:90120004(Mycosis fungoides), UMLS:C0026948(C0026948), MedDRA:10028484(Mycoses fungoides), NDFRT:N0000002076(Mycosis Fungoides [Disease/Finding]), MONDO:MONDO:0009691(mycosis fungoides) +PA446262 Mydriasis Pupil dilated MeSH:D015878(Mydriasis), SnoMedCT:188557000(Large pupil), SnoMedCT:37125009(Dilated pupil), UMLS:C0026961(C0026961), MedDRA:10013007(Dilatation pupillary), NDFRT:N0000003351(Mydriasis [Disease/Finding]), HP:HP:0011499(Mydriasis) +PA166048856 Myelitis, Transverse """NDFRT:N0000002078(Myelitis, Transverse)"", ""MONDO:MONDO:0021553(transverse myelitis)""" +PA445013 Myelodysplastic Syndromes """Dysmyelopoietic Syndrome"", ""Dysmyelopoietic Syndromes"", ""MDS - Myelodysplastic syndrome"", ""Myelodysplastic Syndrome"", ""Myelodysplastic syndrome (clinical)"", ""Preleukaemia"", ""Syndrome, Dysmyelopoietic"", ""Syndrome, Myelodysplastic"", ""Syndromes, Dysmyelopoietic"", ""Syndromes, Myelodysplastic""" MeSH:D009190(Myelodysplastic Syndromes), SnoMedCT:109995007(Myelodysplastic syndrome (clinical)), SnoMedCT:128623006(Myelodysplastic syndrome), UMLS:C0026986(C0026986), MedDRA:10028533(Myelodysplastic syndrome), NDFRT:N0000002079(Myelodysplastic Syndromes [Disease/Finding]), MONDO:MONDO:0018881(myelodysplastic syndrome) +PA445016 Myeloproliferative Disorder """Disorder, Myeloproliferative"", ""Disorders, Myeloproliferative"", ""Myeloid neoplasm"", ""Myeloproliferative Disorder"", ""Myeloproliferative disease"", ""Myeloproliferative disease, no ICD-O subtype"", ""Myeloproliferative disorder"", ""myeloproliferative neoplasm""" MeSH:D009196(Myeloproliferative Disorders), SnoMedCT:128925001(Myeloproliferative disease), SnoMedCT:414792005(Myeloid neoplasm), SnoMedCT:414794006(Myeloproliferative disorder), SnoMedCT:425333006(Myeloproliferative disorder), UMLS:C0027022(C0027022), MedDRA:10013238(Disorder myeloproliferative), NDFRT:N0000002082(Myeloproliferative Disorders [Disease/Finding]), MONDO:MONDO:0020076(myeloproliferative neoplasm), HP:HP:0005547(Myeloproliferative disorder) +PA165817398 Myelosuppression 370569000, Bone marrow toxicity, Hematopoietic toxicity, Hematotoxicity, myelotoxicity UMLS:C0854467(Myelosuppression), MedDRA:10028584(Myelosuppression) +PA445019 Myocardial Infarction """Cardiac infarction"", ""Heart attack"", ""Heart attack, NOS"", ""Infarct, Myocardial"", ""Infarction of heart"", ""Infarction of heart, NOS"", ""Infarction, Myocardial"", ""Infarctions, Myocardial"", ""Infarcts, Myocardial"", ""MI - Myocardial infarction"", ""Myocardial Infarct"", ""Myocardial Infarctions"", ""Myocardial Infarcts"", ""Myocardial infarct"", ""Myocardial infarction"", ""Myocardial infarction, NOS""" MeSH:D009203(Myocardial Infarction), SnoMedCT:22298006(Myocardial infarction), UMLS:C0027051(C0027051), MedDRA:10003723(Attack coronary), NDFRT:N0000002085(Myocardial Infarction [Disease/Finding]), MONDO:MONDO:0005068(myocardial infarction), HP:HP:0001658(Myocardial infarction) +PA446459 Myocardial Ischemia """Cardiac ischemia"", ""Disease, Ischemic Heart"", ""Diseases, Ischemic Heart"", ""Heart Disease, Ischemic"", ""Heart Diseases, Ischemic"", ""IHD - Ischaemic heart disease"", ""IHD - Ischemic heart disease"", ""Ischaemic heart disease"", ""Ischaemic heart disease NOS"", ""Ischemia, Myocardial"", ""Ischemias, Myocardial"", ""Ischemic Heart Disease"", ""Ischemic Heart Diseases"", ""Ischemic heart disease"", ""Myocardial Ischemias"", ""Myocardial ischaemia"", ""Myocardial ischemia""" MeSH:D017202(Myocardial Ischemia), SnoMedCT:194878003(Ischemic heart disease NOS), SnoMedCT:414545008(Ischaemic heart disease), SnoMedCT:414795007(Myocardial ischaemia), UMLS:C0151744(C0151744), MedDRA:10007584(Cardiac ischaemia), NDFRT:N0000003550(Myocardial Ischemia [Disease/Finding]), MONDO:MONDO:0005010(coronary artery disorder), MONDO:MONDO:0024644(myocardial ischemia) +PA446145 Myocardial Reperfusion Injury """Injuries, Myocardial Reperfusion"", ""Injury, Myocardial Reperfusion"", ""Myocardial Reperfusion Injuries"", ""Reperfusion Injuries, Myocardial"", ""Reperfusion Injury, Myocardial""" MeSH:D015428(Myocardial Reperfusion Injury), UMLS:C0027055(Myocardial reperfusion injury), MedDRA:10051624(Myocardial reperfusion injury), NDFRT:N0000003235(Myocardial Reperfusion Injury [Disease/Finding]) +PA445020 Myocarditis Carditis, Myocarditides, Myocarditis NOS MeSH:D009205(Myocarditis), SnoMedCT:195119007(Myocarditis NOS), SnoMedCT:50920009(Myocarditis), UMLS:C0027059(C0027059), MedDRA:10028606(Myocarditis), NDFRT:N0000002086(Myocarditis [Disease/Finding]), MONDO:MONDO:0004496(myocarditis), HP:HP:0012819(Myocarditis) +PA445021 Myoclonus """Action Myoclonus"", ""Disorder characterised by myoclonus"", ""Disorder characterized by myoclonus"", ""Extremity Myoclonus, Lower"", ""Extremity Myoclonus, Upper"", ""Eyelid Myoclonus"", ""Intention Myoclonus"", ""Jerk, Myoclonic"", ""Jerking, Myoclonic"", ""Jerks, Myoclonic"", ""Lower Extremity Myoclonus"", ""Myoclonic Jerk"", ""Myoclonic Jerking"", ""Myoclonic Jerks"", ""Myoclonic disorder"", ""Myoclonus Simplex"", ""Myoclonus disorder"", ""Myoclonus, Action"", ""Myoclonus, Eyelid"", ""Myoclonus, Intention"", ""Myoclonus, Lower Extremity"", ""Myoclonus, Nocturnal"", ""Myoclonus, Oculopalatal"", ""Myoclonus, Palatal"", ""Myoclonus, Segmental"", ""Myoclonus, Sleep"", ""Myoclonus, Upper Extremity"", ""Nocturnal Myoclonus"", ""Oculopalatal Myoclonus"", ""Palatal Myoclonus"", ""Polymyoclonus"", ""Segmental Myoclonus"", ""Simplex, Myoclonus"", ""Sleep Myoclonus"", ""Upper Extremity Myoclonus""" MeSH:D009207(Myoclonus), SnoMedCT:127324008(Myoclonic disorder), SnoMedCT:17450006(Myoclonus), SnoMedCT:267583001(Myoclonus NOS), UMLS:C0027066(C0027066), MedDRA:10028428(Myclonic jerks), NDFRT:N0000002087(Myoclonus [Disease/Finding]), HP:HP:0001336(Myoclonus) +PA445024 Myoglobinuria Myoglobinurias, [D]Myoglobinuria MeSH:D009212(Myoglobinuria), SnoMedCT:207318008([D]Myoglobinuria), SnoMedCT:48165008(Myoglobinuria), UMLS:C0027080(C0027080), MedDRA:10028629(Myoglobinuria), NDFRT:N0000002090(Myoglobinuria [Disease/Finding]), MONDO:MONDO:0000866(obsolete hereditary myoglobinuria), HP:HP:0002913(Myoglobinuria) +PA445028 Myositis """Focal Myositides"", ""Focal Myositis"", ""Idiopathic Inflammatory Myopathies"", ""Idiopathic Inflammatory Myopathy"", ""Infectious Myositides"", ""Infectious Myositis"", ""Inflammatory Muscle Disease"", ""Inflammatory Muscle Diseases"", ""Inflammatory Myopathies"", ""Inflammatory Myopathies, Idiopathic"", ""Inflammatory Myopathy"", ""Inflammatory Myopathy, Idiopathic"", ""Inflammatory disorder of muscle"", ""Inflammatory myopathy"", ""Muscle Disease, Inflammatory"", ""Muscle Diseases, Inflammatory"", ""Muscle inflammation"", ""Myopathies, Idiopathic Inflammatory"", ""Myopathies, Inflammatory"", ""Myopathy, Idiopathic Inflammatory"", ""Myopathy, Inflammatory"", ""Myositides"", ""Myositides, Focal"", ""Myositides, Infectious"", ""Myositides, Proliferative"", ""Myositis unspecified"", ""Myositis, Focal"", ""Myositis, Infectious"", ""Myositis, NOS"", ""Myositis, Proliferative"", ""Proliferative Myositides"", ""Proliferative Myositis""" MeSH:D009220(Myositis), SnoMedCT:128496001(Inflammatory disorder of muscle), SnoMedCT:203110007(Myositis unspecified), SnoMedCT:26889001(Myositis), UMLS:C0027121(C0027121), MedDRA:10028313(Muscle inflammation), NDFRT:N0000002094(Myositis [Disease/Finding]), MONDO:MONDO:0021167(myositis disease), HP:HP:0100614(Myositis) +PA445030 Myotonia """Myotonia, Percussion"", ""Myotonias"", ""Myotonias, Percussion"", ""Myotonic Phenomenon"", ""Myotonic Phenomenons"", ""Percussion Myotonia"", ""Percussion Myotonias"", ""Phenomenon, Myotonic"", ""Phenomenons, Myotonic""" MeSH:D009222(Myotonia), SnoMedCT:3434004(Myotonia), UMLS:C0027125(C0027125), MedDRA:10061533(Myotonia), NDFRT:N0000002096(Myotonia [Disease/Finding]), HP:HP:0002486(Myotonia) +PA445032 Myotonia Congenita """Becker Generalized Myotonia"", ""Generalized Myotonia"", ""Generalized Myotonia of Becker"", ""Generalized Myotonia of Thomsen"", ""Generalized Myotonia, Becker"", ""Generalized Myotonias"", ""Myotonia Levior"", ""Myotonia, Becker Generalized"", ""Myotonia, Generalized"", ""Myotonia, Generalized, Becker"", ""Myotonias, Generalized"", ""Thomsen Disease"", ""Thomsen Generalized Myotonia"", ""Thomsen Generalized Myotonias"", ""Thomsen's Disease"", ""Thomsen's disease"", ""Thomsens Disease""" """MeSH:D009224(Myotonia Congenita)"", ""SnoMedCT:57938005(Congenital myotonia, autosomal dominant form)"", ""UMLS:C0027127(C0027127)"", ""MedDRA:10028655(Myotonia congenita)"", ""NDFRT:N0000002098(Myotonia Congenita [Disease/Finding])"", ""MONDO:MONDO:0009710(Thomsen and Becker disease)""" +PA447130 Myotonic Disorders """Congenita, Paramyotonia"", ""Disease, Eulenburg"", ""Disease, Eulenburg's"", ""Disorder, Myotonic"", ""Disorders, Myotonic"", ""Eulenburg Disease"", ""Eulenburg's Disease"", ""Eulenburgs Disease"", ""Fluctuans, Myotonia"", ""Myopathies, Myotonic"", ""Myopathies, Proximal Myotonic"", ""Myopathy, Myotonic"", ""Myopathy, Proximal Myotonic"", ""Myotonia Fluctuans"", ""Myotonic Disorder"", ""Myotonic Myopathies"", ""Myotonic Myopathies, Proximal"", ""Myotonic Myopathy"", ""Myotonic Myopathy, Proximal"", ""Myotonic disorder"", ""Myotonic disorder NOS"", ""PROMM (Proximal Myotonic Myopathy)"", ""PROMMs (Proximal Myotonic Myopathy)"", ""Paramyotonia Congenita"", ""Paramyotonia Congenitas"", ""Proximal Myotonic Myopathies"", ""Proximal Myotonic Myopathy""" MeSH:D020967(Myotonic Disorders), SnoMedCT:193237003(Myotonic disorder), SnoMedCT:193240003(Myotonic disorder NOS), UMLS:C0553604(C0553604), MedDRA:10028658(Myotonic disorders), NDFRT:N0000004237(Myotonic Disorders [Disease/Finding]), MONDO:MONDO:0016120(myotonic syndrome) +PA445031 Myotonic Dystrophy """Congenital Myotonic Dystrophies"", ""Congenital Myotonic Dystrophy"", ""Dystrophia Myotonica"", ""Dystrophies, Congenital Myotonic"", ""Dystrophies, Myotonic"", ""Dystrophy, Congenital Myotonic"", ""Dystrophy, Myotonic"", ""Myotonia Atrophica"", ""Myotonia Dystrophica"", ""Myotonia dystrophica"", ""Myotonic Dystrophies"", ""Myotonic Dystrophies, Congenital"", ""Myotonic Dystrophy, Congenital"", ""Steinert Disease"", ""Steinert myotonic dystrophy syndrome"", ""Steinert's Disease""" MeSH:D009223(Myotonic Dystrophy), SnoMedCT:77956009(Steinert myotonic dystrophy syndrome), UMLS:C0027126(C0027126), MedDRA:10013987(Dystrophia myotonica), NDFRT:N0000002097(Myotonic Dystrophy [Disease/Finding]), MONDO:MONDO:0016107(myotonic dystrophy) +PA166048742 Myxedema NDFRT:N0000002099(Myxedema), MONDO:MONDO:0009718(myxedema) +PA165108569 Nail disorder Paronychia """MeSH:D009260(Nail Diseases)"", ""MeSH:D010304(Paronychia)"", ""SnoMedCT:201127007(Nail disease NOS)"", ""UMLS:C0027339(C0027339)"", ""MedDRA:10013110(Disease of nail, unspecified)"", ""NDFRT:N0000002103(Nail Diseases [Disease/Finding])"", ""MONDO:MONDO:0002884(nail disorder)"", ""MONDO:MONDO:0005898(paronychia)""" +PA445042 Narcolepsy """Gelineau Syndrome"", ""Gelineau's Syndrome"", ""Gelineau's Syndromes"", ""Gelineau's syndrome"", ""Gelineaus Syndrome"", ""Narcolepsy Cataplexy Syndrome"", ""Narcolepsy-Cataplexy Syndrome"", ""Narcolepsy-Cataplexy Syndromes"", ""Narcoleptic Syndrome"", ""Narcoleptic Syndromes"", ""Paroxysmal Sleep"", ""Sleep, Paroxysmal"", ""Syndrome, Gelineau"", ""Syndrome, Gelineau's"", ""Syndrome, Narcolepsy-Cataplexy"", ""Syndrome, Narcoleptic"", ""Syndromes, Gelineau's"", ""Syndromes, Narcolepsy-Cataplexy"", ""Syndromes, Narcoleptic""" MeSH:D009290(Narcolepsy), SnoMedCT:60380001(Narcolepsy), UMLS:C0027404(C0027404), MedDRA:10028713(Narcolepsy), NDFRT:N0000002108(Narcolepsy [Disease/Finding]), MONDO:MONDO:0016158(narcolepsy-cataplexy syndrome), MONDO:MONDO:0021107(narcolepsy), HP:HP:0030050(Narcolepsy) +PA445044 Nasal Polyps """Nasal Polyp"", ""Nasal polyp NOS"", ""Nasal polyposis"", ""Polyp of nasal cavity NOS"", ""Polyp, Nasal"", ""Polyps, Nasal""" MeSH:D009298(Nasal Polyps), SnoMedCT:195754007(Polyp of nasal cavity NOS), SnoMedCT:195762004(Nasal polyp NOS), SnoMedCT:52756005(Nasal polyp), UMLS:C0027430(C0027430), MedDRA:10028754(Nasal polyp), NDFRT:N0000002110(Nasal Polyps [Disease/Finding]), MONDO:MONDO:0006314(nasal cavity polyp) +PA445046 Nasopharyngeal Neoplasms """Cancer of Nasopharynx"", ""Cancer of the Nasopharynx"", ""Cancer, Nasopharyngeal"", ""Cancer, Nasopharynx"", ""Cancers, Nasopharyngeal"", ""Cancers, Nasopharynx"", ""Nasopharyngeal Cancer"", ""Nasopharyngeal Cancers"", ""Nasopharyngeal Neoplasm"", ""Nasopharynx Cancer"", ""Nasopharynx Cancers"", ""Nasopharynx Neoplasm"", ""Nasopharynx Neoplasms"", ""Neoplasm of nasopharynx"", ""Neoplasm, Nasopharyngeal"", ""Neoplasm, Nasopharynx"", ""Neoplasms, Nasopharyngeal"", ""Neoplasms, Nasopharynx"", ""Tumor of postnasal space"", ""Tumour of nasopharynx""" MeSH:D009303(Nasopharyngeal Neoplasms), SnoMedCT:126680004(Neoplasm of nasopharynx), UMLS:C0027439(C0027439), NDFRT:N0000002112(Nasopharyngeal Neoplasms [Disease/Finding]), MONDO:MONDO:0005375(nasopharyngeal neoplasm) +PA445048 Nausea Nauseated, Nauseous, Observation of nausea MeSH:D009325(Nausea), SnoMedCT:162060000(Nausea NOS), SnoMedCT:207111007([D]Nausea), SnoMedCT:422587007(Nausea), UMLS:C0027497(C0027497), MedDRA:10016361(Feeling queasy), NDFRT:N0000002114(Nausea [Disease/Finding]), HP:HP:0002018(Nausea) +PA166048837 Necatoriasis NDFRT:N0000002115(Necatoriasis), MONDO:MONDO:0005870(necatoriasis) +PA446840 Neck Pain """Ache, Neck"", ""Aches, Neck"", ""Anterior Cervical Pain"", ""Anterior Cervical Pains"", ""Anterior Neck Pain"", ""Anterior Neck Pains"", ""Cervical Pain"", ""Cervical Pain, Anterior"", ""Cervical Pain, Posterior"", ""Cervical Pains"", ""Cervical Pains, Anterior"", ""Cervical Pains, Posterior"", ""Cervical pain"", ""Cervicalgia"", ""Cervicalgias"", ""Cervicodynia"", ""Cervicodynias"", ""Neck Ache"", ""Neck Aches"", ""Neck Pain, Anterior"", ""Neck Pain, Posterior"", ""Neck Pains"", ""Neck Pains, Anterior"", ""Neck Pains, Posterior"", ""Neck ache"", ""Neck pain"", ""Neckache"", ""Neckaches"", ""Pain, Anterior Cervical"", ""Pain, Anterior Neck"", ""Pain, Cervical"", ""Pain, Neck"", ""Pain, Posterior Cervical"", ""Pain, Posterior Neck"", ""Pains, Anterior Cervical"", ""Pains, Anterior Neck"", ""Pains, Cervical"", ""Pains, Neck"", ""Pains, Posterior Cervical"", ""Pains, Posterior Neck"", ""Posterior Cervical Pain"", ""Posterior Cervical Pains"", ""Posterior Neck Pain"", ""Posterior Neck Pains""" MeSH:D019547(Neck Pain), SnoMedCT:81680005(Neck pain), UMLS:C0007859(C0007859), MedDRA:10008296(Cervical pain), NDFRT:N0000003931(Neck Pain [Disease/Finding]), HP:HP:0030833(Neck pain) +PA445051 Necrosis """Necroses"", ""Necrosis, NOS"", ""Tissue devitalization""" MeSH:D009336(Necrosis), SnoMedCT:6574001(Necrosis), UMLS:C0027540(C0027540), MedDRA:10028851(Necrosis), NDFRT:N0000002117(Necrosis [Disease/Finding]) +PA165108536 Nelson syndrome MeSH:D009347(Nelson Syndrome), SnoMedCT:43019009(Nelson syndrome), UMLS:C0027577(C0027577), MedDRA:10028913(Nelson's syndrome), NDFRT:N0000002118(Nelson Syndrome [Disease/Finding]), MONDO:MONDO:0016035(Nelson syndrome) +PA165108809 Neonatal Abstinence Syndrome MeSH:D009357(Neonatal Abstinence Syndrome), SnoMedCT:414819007(Neonatal Abstinence Syndrome), UMLS:C0027609(C0027609), MedDRA:10013755(Drug withdrawal syndrome in newborn), NDFRT:N0000002120(Neonatal Abstinence Syndrome [Disease/Finding]), MONDO:MONDO:0005566(neonatal abstinence syndrome), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA151958338 Neonatal death Death, Neonatal SnoMedCT:6254007(Neonatal death), UMLS:C0410916(C0410916), MedDRA:10011912(Death neonatal), HP:HP:0003811(Neonatal death) +PA444650 Neonatal hyperbilirubinemia """Hyperbilirubinemia, Neonatal"", ""Hyperbilirubinemias, Neonatal"", ""Icterus neonatorum"", ""Neonatal Hyperbilirubinemia"", ""Neonatal Hyperbilirubinemias"", ""Neonatal Jaundice"", ""Neonatal jaundice""" """MeSH:D007567(Jaundice, Neonatal)"", ""SnoMedCT:206474007(Icterus neonatorum, unspecified)"", ""SnoMedCT:387712008(Neonatal jaundice)"", ""UMLS:C0022353(C0022353)"", ""MedDRA:10021210(Icterus neonatorum)"", ""NDFRT:N0000001716(Jaundice, Neonatal [Disease/Finding])"", ""MONDO:MONDO:0006584(obsolete neonatal jaundice)"", ""HP:HP:0003265(Neonatal hyperbilirubinemia)""" +PA166248761 neonatal-onset multisystemic inflammatory disease CINCA syndrome, NOMID MeSH:D056587(Cryopyrin-Associated Periodic Syndromes), MedDRA:10064572(CINCA syndrome), MedDRA:10064573(Neonatal-onset multisystemic inflammatory disease), MONDO:MONDO:0016168(cryopyrin-associated periodic syndrome) +PA166048779 Neonate """Infant, Newborn"", ""newborn""" NDFRT:N0000010204(Neonate) +PA444101 Neoplasm of esophagus """Cancer of Esophagus"", ""Cancer of the Esophagus"", ""Cancer, Esophageal"", ""Cancer, Esophagus"", ""Cancers, Esophageal"", ""Cancers, Esophagus"", ""Esophageal Cancer"", ""Esophageal Cancers"", ""Esophageal Neoplasm"", ""Esophagus Cancer"", ""Esophagus Cancers"", ""Esophagus Neoplasm"", ""Esophagus Neoplasms"", ""Neoplasm of esophagus"", ""Neoplasm of oesophagus"", ""Neoplasm, Esophageal"", ""Neoplasm, Esophagus"", ""Neoplasms, Esophageal"", ""Neoplasms, Esophagus"", ""Tumor of esophagus"", ""Tumour of oesophagus""" MeSH:D004938(Esophageal Neoplasms), SnoMedCT:126817006(Neoplasm of esophagus), UMLS:C0014859(C0014859), MedDRA:10015386(Esophageal neoplasm NOS), NDFRT:N0000001162(Esophageal Neoplasms [Disease/Finding]), MONDO:MONDO:0021355(neoplasm of esophagus) +PA444972 Neoplasm of the oral cavity """Cancer of Mouth"", ""Cancer of the Mouth"", ""Cancer, Mouth"", ""Cancer, Oral"", ""Cancers, Mouth"", ""Cancers, Oral"", ""Mouth Cancer"", ""Mouth Cancers"", ""Mouth Neoplasm"", ""Neoplasm of mouth"", ""Neoplasm, Mouth"", ""Neoplasm, Oral"", ""Neoplasms, Mouth"", ""Neoplasms, Oral"", ""Oral Cancer"", ""Oral Cancers"", ""Oral Neoplasm"", ""Oral Neoplasms"", ""Tumor of mouth"", ""Tumor of oral cavity"", ""Tumour of mouth"", ""Tumour of oral cavity""" MeSH:D009062(Mouth Neoplasms), SnoMedCT:126797001(Neoplasm of mouth), SnoMedCT:235075007(Tumor of oral cavity), UMLS:C0026640(C0026640), MedDRA:10028029(Mouth neoplasia), NDFRT:N0000002037(Mouth Neoplasms [Disease/Finding]), MONDO:MONDO:0021245(oral cavity neoplasm), HP:HP:0100649(Neoplasm of the oral cavity) +PA445062 Neoplasms """Benign Neoplasm"", ""Benign Neoplasms"", ""Cancer"", ""Cancers"", ""Neoplasm"", ""Neoplasm, Benign"", ""Neoplasms NOS"", ""Neoplasms, Benign"", ""Tumor"", ""Tumors"", ""Tumour""" MeSH:D009369(Neoplasms), SnoMedCT:108369006(Neoplasm), SnoMedCT:189525008(Unspecified nature neoplasm), SnoMedCT:189526009(Neoplasm of unspecified nature), SnoMedCT:189541009(Neoplasm of unspecified nature NOS), SnoMedCT:190230000(Neoplasms NOS), UMLS:C0027651(C0027651), MedDRA:10028980(Neoplasm), NDFRT:N0000002128(Neoplasms [Disease/Finding]), MONDO:MONDO:0005070(neoplasm) +PA446668 Neoplasms, Basal Cell """Basal Cell Cancer"", ""Basal Cell Cancers"", ""Basal Cell Neoplasm"", ""Basal Cell Neoplasms"", ""Basal cell neoplasm (morphology)"", ""Basal cell tumor"", ""Basal cell tumor, uncertain whether benign or malignant"", ""Basal cell tumour"", ""Cancer, Basal Cell"", ""Cancers, Basal Cell"", ""Cell Cancer, Basal"", ""Cell Cancers, Basal"", ""Cell Neoplasm, Basal"", ""Cell Neoplasms, Basal"", ""Neoplasm, Basal Cell""" """MeSH:D018295(Neoplasms, Basal Cell)"", ""SnoMedCT:127570002(Basal cell neoplasm (morphology))"", ""SnoMedCT:30649006(Basal cell tumor)"", ""UMLS:C0206710(C0206710)"", ""NDFRT:N0000003759(Neoplasms, Basal Cell [Disease/Finding])"", ""MONDO:MONDO:0020799(basal cell neoplasm)""" +PA445074 Neoplasms, Radiation-Induced """Cancer, Radiation Induced"", ""Cancer, Radiation-Induced"", ""Cancers, Radiation-Induced"", ""Neoplasm, Radiation-Induced"", ""Neoplasms, Radiation Induced"", ""Radiation Induced Cancer"", ""Radiation Induced Neoplasms"", ""Radiation-Induced Cancer"", ""Radiation-Induced Cancers"", ""Radiation-Induced Neoplasm"", ""Radiation-Induced Neoplasms""" """MeSH:D009381(Neoplasms, Radiation-Induced)"", ""UMLS:C0027666(Neoplasms, Radiation-Induced [Disease/Finding])"", ""NDFRT:N0000002140(Neoplasms, Radiation-Induced [Disease/Finding])""" +PA446357 Neoplasms, Second Primary """Cancer, Second"", ""Cancer, Second Primary"", ""Cancer, Therapy-Associated"", ""Cancer, Therapy-Related"", ""Cancer, Treatment-Associated"", ""Cancer, Treatment-Related"", ""Cancers, Second"", ""Cancers, Second Primary"", ""Cancers, Therapy-Associated"", ""Cancers, Therapy-Related"", ""Cancers, Treatment-Associated"", ""Cancers, Treatment-Related"", ""Malignancies, Second"", ""Malignancy, Second"", ""Metachronous Neoplasm"", ""Metachronous Neoplasms"", ""Metachronous Second Primary Neoplasms"", ""Neoplasm, Metachronous"", ""Neoplasm, Second"", ""Neoplasm, Second Primary"", ""Neoplasm, Therapy-Associated"", ""Neoplasm, Therapy-Related"", ""Neoplasm, Treatment-Associated"", ""Neoplasm, Treatment-Related"", ""Neoplasms, Metachronous"", ""Neoplasms, Metachronous Second Primary"", ""Neoplasms, Second"", ""Neoplasms, Therapy Associated"", ""Neoplasms, Therapy Related"", ""Neoplasms, Therapy-Associated"", ""Neoplasms, Therapy-Related"", ""Neoplasms, Treatment Associated"", ""Neoplasms, Treatment Related"", ""Neoplasms, Treatment-Associated"", ""Neoplasms, Treatment-Related"", ""Second Cancer"", ""Second Cancers"", ""Second Malignancies"", ""Second Malignancy"", ""Second Neoplasm"", ""Second Neoplasms"", ""Second Primary Cancer"", ""Second Primary Cancers"", ""Second Primary Neoplasm"", ""Second Primary Neoplasms"", ""Second Primary Neoplasms, Metachronous"", ""Therapy Associated Cancer"", ""Therapy Associated Neoplasms"", ""Therapy Related Cancer"", ""Therapy Related Neoplasms"", ""Therapy-Associated Cancer"", ""Therapy-Associated Cancers"", ""Therapy-Associated Neoplasm"", ""Therapy-Associated Neoplasms"", ""Therapy-Related Cancer"", ""Therapy-Related Cancers"", ""Therapy-Related Neoplasm"", ""Therapy-Related Neoplasms"", ""Treatment Associated Cancer"", ""Treatment Associated Neoplasms"", ""Treatment Related Cancer"", ""Treatment Related Neoplasms"", ""Treatment-Associated Cancer"", ""Treatment-Associated Cancers"", ""Treatment-Associated Neoplasm"", ""Treatment-Associated Neoplasms"", ""Treatment-Related Cancer"", ""Treatment-Related Cancers"", ""Treatment-Related Neoplasm"", ""Treatment-Related Neoplasms""" """MeSH:D016609(Neoplasms, Second Primary)"", ""UMLS:C0085183(Neoplasms, Second Primary [Disease/Finding])"", ""NDFRT:N0000003448(Neoplasms, Second Primary [Disease/Finding])""" +PA445081 Nephritis Nephritides MONDO:MONDO:0001166(nephritis), HP:HP:0000123(Nephritis) +PA445085 Nephrocalcinosis Nephrocalcinoses MONDO:MONDO:0001567(nephrocalcinosis), HP:HP:0000121(Nephrocalcinosis) +PA165108186 Nephrogenic systemic fibrosis Nephrogenic fibrosing dermopathy MeSH:D054989(Nephrogenic Fibrosing Dermopathy), SnoMedCT:424114000(Nephrogenic systemic fibrosis), UMLS:C1619692(C1619692), MedDRA:10064499(Nephrogenic fibrosing dermopathy), NDFRT:N0000181229(Nephrogenic Fibrosing Dermopathy [Disease/Finding]), MONDO:MONDO:0015294(nephrogenic systemic fibrosis) +PA162355520 Nephrolithiasis Kidney Calculi, Nephrolithiasis NOS, kidney stones MeSH:D053040(Nephrolithiasis), SnoMedCT:236707002(Nephrolithiasis NOS), UMLS:C0392525(C0392525), MedDRA:10029148(Nephrolithiasis), NDFRT:N0000181137(Nephrolithiasis [Disease/Finding]), MONDO:MONDO:0008171(nephrolithiasis), HP:HP:0000787(Nephrolithiasis) +PA445086 Nephrosclerosis Arteriosclerosis of kidney, Interstitial arteriosclerotic nephritis, Nephroscleroses, Renal sclerosis NOS, Renal sclerosis unspecified MeSH:D009400(Nephrosclerosis), SnoMedCT:197658002(Renal sclerosis unspecified), SnoMedCT:197662008(Renal sclerosis NOS), SnoMedCT:32916005(Nephrosclerosis), UMLS:C0027719(C0027719), MedDRA:10003214(Arteriosclerosis renal), NDFRT:N0000002152(Nephrosclerosis [Disease/Finding]), MONDO:MONDO:0006044(nephrosclerosis), HP:HP:0009741(Nephrosclerosis) +PA445087 Nephrosis Nephroses MONDO:MONDO:0002331(nephrosis) +PA445089 Nephrotic Syndrome """Nephrotic Syndromes"", ""Nephrotic syndrome"", ""Nephrotic syndrome NOS"", ""Syndrome, Nephrotic"", ""Syndromes, Nephrotic""" MeSH:D009404(Nephrotic Syndrome), SnoMedCT:197611005(Nephrotic syndrome NOS), SnoMedCT:52254009(Nephrotic syndrome), UMLS:C0027726(C0027726), MedDRA:10029164(Nephrotic syndrome), NDFRT:N0000002155(Nephrotic Syndrome [Disease/Finding]), MONDO:MONDO:0005377(nephrotic syndrome), HP:HP:0000100(Nephrotic syndrome) +PA162263533 Nephrotoxicity renal toxicity UMLS:C0599918(Nephrotoxicity), MedDRA:10067571(Nephrotoxicity) +PA445094 Nervous System Neoplasms """Neoplasm of nervous system"", ""Neoplasm, Nervous System"", ""Neoplasms, Nervous System"", ""Nervous System Neoplasm"", ""Nervous System Tumor"", ""Nervous System Tumors"", ""Tumor of nervous system"", ""Tumor, Nervous System"", ""Tumors of the Nervous System"", ""Tumors, Nervous System"", ""Tumour of nervous system""" MONDO:MONDO:0021248(nervous system neoplasm) +PA445096 Neuralgia """Atypical Neuralgia"", ""Atypical Neuralgias"", ""Iliohypogastric Nerve Neuralgia"", ""Iliohypogastric Nerve Neuralgias"", ""Ilioinguinal Neuralgia"", ""Ilioinguinal Neuralgias"", ""Nerve Neuralgia, Iliohypogastric"", ""Nerve Neuralgias, Iliohypogastric"", ""Nerve Pain"", ""Nerve Pain, Paroxysmal"", ""Nerve Pains"", ""Nerve Pains, Paroxysmal"", ""Neuralgia unspecified"", ""Neuralgia, Atypical"", ""Neuralgia, Iliohypogastric Nerve"", ""Neuralgia, Ilioinguinal"", ""Neuralgia, Perineal"", ""Neuralgia, Stump"", ""Neuralgia, Supraorbital"", ""Neuralgia, Vidian"", ""Neuralgias"", ""Neuralgias, Atypical"", ""Neuralgias, Iliohypogastric Nerve"", ""Neuralgias, Ilioinguinal"", ""Neuralgias, Perineal"", ""Neuralgias, Stump"", ""Neuralgias, Supraorbital"", ""Neuralgias, Vidian"", ""Neurodynia"", ""Neurodynias"", ""Pain, Nerve"", ""Pain, Paroxysmal Nerve"", ""Pains, Nerve"", ""Pains, Paroxysmal Nerve"", ""Paroxysmal Nerve Pain"", ""Paroxysmal Nerve Pains"", ""Perineal Neuralgia"", ""Perineal Neuralgias"", ""Stump Neuralgia"", ""Stump Neuralgias"", ""Supraorbital Neuralgia"", ""Supraorbital Neuralgias"", ""Vidian Neuralgia"", ""Vidian Neuralgias""" MeSH:D009437(Neuralgia), SnoMedCT:16269008(Neuralgia), SnoMedCT:203115002(Neuralgia unspecified), UMLS:C0027796(C0027796), MedDRA:10029223(Neuralgia), NDFRT:N0000002162(Neuralgia [Disease/Finding]), MONDO:MONDO:0021667(neuralgia), HP:HP:0033345(Neuralgia) +PA445095 Neural Tube Defects """Acrania"", ""Acranias"", ""Craniorachischises"", ""Craniorachischisis"", ""Cyst, Neurenteric"", ""Cyst, Neuroenteric"", ""Cysts, Neurenteric"", ""Cysts, Neuroenteric"", ""Defect, Neural Tube"", ""Defects, Neural Tube"", ""Developmental Defects, Neural Tube"", ""Developmental Neural Tube Defects"", ""Diastematomyelia"", ""Diastematomyelias"", ""Exencephalies"", ""Exencephaly"", ""Iniencephalies"", ""Iniencephaly"", ""Myelodysplasia"", ""Myelodysplasia, Spinal Cord"", ""Myelodysplasias"", ""Myelodysplasias, Spinal Cord"", ""NTD - Neural tube defect"", ""Neural Tube Defect"", ""Neural Tube Developmental Defects"", ""Neurenteric Cyst"", ""Neurenteric Cysts"", ""Neuroenteric Cyst"", ""Neuroenteric Cysts"", ""Spinal Cord Myelodysplasia"", ""Spinal Cord Myelodysplasias"", ""Tethered Cord Syndrome"", ""Tethered Cord Syndromes""" MeSH:D009436(Neural Tube Defects), SnoMedCT:253098009(Neural tube defect), UMLS:C0027794(C0027794), MedDRA:10052046(Neural tube defect), NDFRT:N0000002161(Neural Tube Defects [Disease/Finding]), MONDO:MONDO:0018075(neural tube defect), MONDO:MONDO:0019795(acalvaria) +PA445100 Neuroblastoma Central neuroblastoma, Neuroblastomas, Sympathicoblastoma MeSH:D009447(Neuroblastoma), SnoMedCT:432328008(Neuroblastoma), SnoMedCT:87364003(Neuroblastoma), UMLS:C0027819(C0027819), MedDRA:10029260(Neuroblastoma), NDFRT:N0000002167(Neuroblastoma [Disease/Finding]), MONDO:MONDO:0005072(neuroblastoma), HP:HP:0003006(Neuroblastoma) +PA446858 Neurodegenerative Diseases """Degenerative Condition, Neurologic"", ""Degenerative Conditions, Neurologic"", ""Degenerative Diseases, Central Nervous System"", ""Degenerative Diseases, Nervous System"", ""Degenerative Diseases, Neurologic"", ""Degenerative Diseases, Spinal Cord"", ""Degenerative Neurologic Disease"", ""Degenerative Neurologic Diseases"", ""Degenerative Neurologic Disorder"", ""Degenerative Neurologic Disorders"", ""Nervous System Degenerative Diseases"", ""Neurodegenerative Disease"", ""Neurodegenerative Disorder"", ""Neurodegenerative Disorders"", ""Neurologic Degenerative Condition"", ""Neurologic Degenerative Conditions"", ""Neurologic Degenerative Disease"", ""Neurologic Degenerative Diseases"", ""Neurologic Disease, Degenerative"", ""Neurologic Diseases, Degenerative"", ""Neurologic Disorder, Degenerative"", ""Neurologic Disorders, Degenerative""" MeSH:D019636(Neurodegenerative Diseases), UMLS:C0524851(Neurodegenerative Diseases [Disease/Finding]), NDFRT:N0000003949(Neurodegenerative Diseases [Disease/Finding]), MONDO:MONDO:0005559(neurodegenerative disease) +PA446651 Neuroendocrine Carcinoma """Carcinomas, Neuroendocrine"", ""Neuroendocrine Carcinoma"", ""Neuroendocrine Carcinomas"", ""Neuroendocrine carcinoma""" """MeSH:D018278(Carcinoma, Neuroendocrine)"", ""SnoMedCT:253000007(Neuroendocrine carcinoma)"", ""SnoMedCT:55937004(Neuroendocrine carcinoma)"", ""UMLS:C0206695(C0206695)"", ""MedDRA:10057270(Neuroendocrine carcinoma)"", ""NDFRT:N0000003742(Carcinoma, Neuroendocrine [Disease/Finding])"", ""MONDO:MONDO:0002120(neuroendocrine carcinoma)""" +PA446713 Neuroendocrine Tumors """Neuroendocrine Tumor"", ""Neuroendocrine neoplasm"", ""Neuroendocrine tumour"", ""Tumor, Neuroendocrine"", ""Tumors, Neuroendocrine""" MeSH:D018358(Neuroendocrine Tumors), SnoMedCT:128928004(Neuroendocrine neoplasm), SnoMedCT:255046005(Neuroendocrine tumour), UMLS:C0206754(C0206754), MedDRA:10062476(Neuroendocrine tumor), NDFRT:N0000003804(Neuroendocrine Tumors [Disease/Finding]), MONDO:MONDO:0019496(neuroendocrine neoplasm) +PA445103 Neurofibromatosis type 1 """I, Neurofibromatosis Type"", ""LEOPARD Syndrome"", ""LEOPARD Syndromes"", ""NF1 (Neurofibromatosis 1)"", ""Neurofibromatoses, Peripheral"", ""Neurofibromatoses, Type I"", ""Neurofibromatosis I"", ""Neurofibromatosis Type 1"", ""Neurofibromatosis Type I"", ""Neurofibromatosis, Peripheral"", ""Neurofibromatosis, Peripheral, NF 1"", ""Neurofibromatosis, Peripheral, NF1"", ""Neurofibromatosis, Type 1"", ""Neurofibromatosis, Type I"", ""Peripheral Neurofibromatoses"", ""Peripheral Neurofibromatosis"", ""Recklinghausen Disease of Nerve"", ""Recklinghausen Disease, Nerve"", ""Recklinghausen's Disease of Nerve"", ""Recklinghausens Disease of Nerve"", ""Syndrome, LEOPARD"", ""Syndrome, Watson"", ""Syndromes, LEOPARD"", ""Type 1 Neurofibromatosis"", ""Type 1, Neurofibromatosis"", ""Type I Neurofibromatoses"", ""Type I, Neurofibromatosis"", ""Watson Syndrome"", ""von Recklinghausen Disease"", ""von Recklinghausen's Disease"", ""von Recklinghausens Disease""" """MeSH:D009456(Neurofibromatosis 1)"", ""SnoMedCT:92824003(Neurofibromatosis, type 1)"", ""UMLS:C0027831(C0027831)"", ""MedDRA:10029270(Neurofibromatosis, type 1 (von Recklinghausen's disease))"", ""NDFRT:N0000002171(Neurofibromatosis 1 [Disease/Finding])"", ""MONDO:MONDO:0011035(neurofibromatosis-Noonan syndrome)"", ""MONDO:MONDO:0018975(neurofibromatosis type 1)""" +PA446338 Neurofibromatosis type 2 """2 Neurofibromatoses, Type"", ""2 Neurofibromatosis, Type"", ""2, Neurofibromatosis Type"", ""2s, Neurofibromatosis Type"", ""Acoustic Neurofibromatoses, Bilateral"", ""Acoustic Neurofibromatosis, Bilateral"", ""Acoustic Neuroma, Familial"", ""Acoustic Neuromas, Familial"", ""BANF - Bilateral acoustic neurofibromatosis"", ""Bilateral Acoustic Neurofibromatoses"", ""Bilateral Acoustic Neurofibromatosis"", ""Bilateral acoustic neurofibromatosis"", ""Central NF2 Neurofibromatoses"", ""Central NF2 Neurofibromatosis"", ""Familial Acoustic Neuroma"", ""Familial Acoustic Neuromas"", ""II Neurofibromatoses, Type"", ""II Neurofibromatosis, Type"", ""II, Neurofibromatosis"", ""II, Neurofibromatosis Type"", ""IIs, Neurofibromatosis"", ""IIs, Neurofibromatosis Type"", ""NF2 (Neurofibromatosis 2)"", ""NF2s (Neurofibromatosis 2)"", ""Neurofibromatoses, Bilateral Acoustic"", ""Neurofibromatoses, Central NF2"", ""Neurofibromatoses, Type 2"", ""Neurofibromatoses, Type II"", ""Neurofibromatosis II"", ""Neurofibromatosis IIs"", ""Neurofibromatosis Type 2"", ""Neurofibromatosis Type 2s"", ""Neurofibromatosis Type II"", ""Neurofibromatosis Type IIs"", ""Neurofibromatosis, Acoustic, Bilateral"", ""Neurofibromatosis, Bilateral Acoustic"", ""Neurofibromatosis, Central NF2"", ""Neurofibromatosis, Central, NF 2"", ""Neurofibromatosis, Central, NF2"", ""Neurofibromatosis, Type 2"", ""Neurofibromatosis, Type II"", ""Neuroma, Acoustic, Bilateral"", ""Neuroma, Familial Acoustic"", ""Neuromas, Familial Acoustic"", ""Schwannoma, Acoustic, Bilateral"", ""Type 2 Neurofibromatoses"", ""Type 2 Neurofibromatosis"", ""Type 2, Neurofibromatosis"", ""Type 2s, Neurofibromatosis"", ""Type II Neurofibromatoses"", ""Type II Neurofibromatosis"", ""Type II, Neurofibromatosis"", ""Type IIs, Neurofibromatosis""" """MeSH:D016518(Neurofibromatosis 2)"", ""SnoMedCT:92503002(Neurofibromatosis, type 2)"", ""UMLS:C0027832(C0027832)"", ""MedDRA:10029271(Neurofibromatosis, type 2 (acoustic neurofibromatosis))"", ""NDFRT:N0000003427(Neurofibromatosis 2 [Disease/Finding])"", ""MONDO:MONDO:0007039(NF2-related schwannomatosis)""" +PA445104 Neuroleptic Malignant Syndrome """Malignant neuroleptic syndrome"", ""NMS (Neuroleptic Malignant Syndrome)"", ""NMS - Neuroleptic malignant syndrome"", ""NMSs (Neuroleptic Malignant Syndrome)"", ""Neuroleptic Induced Neuroleptic Malignant Syndrome"", ""Neuroleptic Malignant Syndrome, Neuroleptic Induced"", ""Neuroleptic Malignant Syndromes"", ""Neuroleptic-Induced Neuroleptic Malignant Syndrome"", ""Neuroleptic-Malignant Syndrome, Neuroleptic Induced"", ""Syndrome, Neuroleptic Malignant"", ""Syndromes, Neuroleptic Malignant""" MeSH:D009459(Neuroleptic Malignant Syndrome), SnoMedCT:15244003(Neuroleptic malignant syndrome), UMLS:C0027849(C0027849), MedDRA:10029281(Neuroleptic malignant), NDFRT:N0000002172(Neuroleptic Malignant Syndrome [Disease/Finding]), MONDO:MONDO:0019790(neuroleptic malignant syndrome) +PA445108 Neuromuscular Diseases """Amyotonia Congenita"", ""Benign Fasciculation-Cramp Syndrome"", ""Benign Fasciculation-Cramp Syndromes"", ""Combined disorder of muscle AND peripheral nerve"", ""Cramp Fasciculation Syndrome"", ""Cramp-Fasciculation Syndrome"", ""Cramp-Fasciculation Syndromes"", ""Fasciculation Cramp Syndrome, Benign"", ""Fasciculation-Cramp Syndrome, Benign"", ""Fasciculation-Cramp Syndromes, Benign"", ""Foley Denny Brown Syndrome"", ""Foley-Denny-Brown Syndrome"", ""Myoneural disorder"", ""Myoneural disorders"", ""Neuromuscular Disease"", ""Neuromyopathy"", ""Oppenheim Disease"", ""Oppenheim's Disease"", ""Oppenheims Disease"", ""Syndrome, Cramp-Fasciculation"", ""Syndrome, Foley-Denny-Brown"", ""Syndromes, Cramp-Fasciculation""" MeSH:D009468(Neuromuscular Diseases), SnoMedCT:193218007(Myoneural disorder NOS), SnoMedCT:255522009(Neuromyopathy), SnoMedCT:257277002(Myoneural disorder), UMLS:C0027868(C0027868), MedDRA:10028637(Myoneural disorders), NDFRT:N0000002176(Neuromuscular Diseases [Disease/Finding]), MONDO:MONDO:0019056(neuromuscular disease) +PA445109 Neuromyelitis Optica """Devic Disease"", ""Devic Syndrome"", ""Devic syndrome"", ""Devic's Disease"", ""Devic's Syndrome"", ""Devic's Syndromes"", ""Devic's disease"", ""Devics Disease"", ""Devics Syndrome"", ""Disease, Devic"", ""Disease, Devic's"", ""Neuromyelitis optica"", ""Optic neuromyelitis"", ""SMON"", ""Subacute myelo-optic neuropathy"", ""Syndrome, Devic"", ""Syndrome, Devic's"", ""Syndromes, Devic's""" MeSH:D009471(Neuromyelitis Optica), SnoMedCT:25044007(Neuromyelitis optica), UMLS:C0027873(C0027873), MedDRA:10012574(Devic's disease), NDFRT:N0000002177(Neuromyelitis Optica [Disease/Finding]), MONDO:MONDO:0019100(neuromyelitis optica) +PA162263525 Neuropathic pain Neuropathic pain SnoMedCT:247398009(Neuropathic pain), UMLS:C0423716(C0423716), MedDRA:10054095(Neuropathic pain), NDFRT:N0000002162(Neuralgia [Disease/Finding]), HP:HP:6000040(Neuropathic pain) +PA445112 Neurosyphilis """Asymptomatic Neurosyphilis"", ""Central Nervous System Syphilis"", ""General Paralyses"", ""General Paralysis"", ""General Pareses"", ""General Paresis"", ""General Paresis of the Insane"", ""Gummatous Neurosyphilis"", ""Juvenile Neurosyphilis"", ""Juvenile Pareses"", ""Juvenile Paresis"", ""Neurosyphilis NOS"", ""Neurosyphilis, Asymptomatic"", ""Neurosyphilis, Gummatous"", ""Neurosyphilis, Juvenile"", ""Neurosyphilis, NOS"", ""Neurosyphilis, Paretic"", ""Neurosyphilis, Secondary"", ""Neurosyphilis, Symptomatic"", ""Paralyses, General"", ""Paralysis, General"", ""Pareses, General"", ""Pareses, Juvenile"", ""Paresis, General"", ""Paresis, Juvenile"", ""Paretic Neurosyphilis"", ""Secondary Neurosyphilis"", ""Syphilis of central nervous system"", ""Syphilis of central nervous system, NOS"", ""Syphilis, CNS"", ""Syphilis, Central Nervous System""" MONDO:MONDO:0004944(neurosyphilis) +PA447210 Neurotic Disorder """Neurosis"", ""Neurosis, NOS"", ""Neurotic disorder NOS"", ""Nonpsychotic mental disorder"", ""Nonpsychotic mental disorder, NOS""" MeSH:D009497(Neurotic Disorders), SnoMedCT:111475002(Neurosis), SnoMedCT:268632008(Neurotic disorder NOS), UMLS:C0027932(C0027932), MedDRA:10029333(Neurosis), NDFRT:N0000002181(Neurotic Disorders [Disease/Finding]), MONDO:MONDO:0005379(neurotic disorder) +PA446975 Neurotoxicity Syndromes """Encephalitides, Toxic"", ""Encephalitis, Toxic"", ""Encephalopathies, Toxic"", ""Encephalopathy, Toxic"", ""Nervous System Poisoning"", ""Nervous System Poisonings"", ""Neurotoxic Disorder"", ""Neurotoxic Disorders"", ""Neurotoxic effect"", ""Neurotoxicity"", ""Neurotoxicity Syndrome"", ""Neurotoxicity Syndromes"", ""Neurotoxicity, NOS"", ""Neurotoxicosis"", ""Neurotoxin Disease"", ""Neurotoxin Diseases"", ""Neurotoxin Disorder"", ""Neurotoxin Disorders"", ""Poisoning of nerve tissue"", ""Poisoning, Nervous System"", ""Poisonings, Nervous System"", ""Syndrome, Neurotoxicity"", ""Syndromes, Neurotoxicity"", ""Toxic Encephalitides"", ""Toxic Encephalitis"", ""Toxic Encephalopathies"", ""Toxic Encephalopathy"", ""neurotoxicity""" MeSH:D020258(Neurotoxicity Syndromes), SnoMedCT:19466003(Neurotoxicity), UMLS:C0235032(C0235032), MedDRA:10029349(Neurotic toxicity), NDFRT:N0000004080(Neurotoxicity Syndromes [Disease/Finding]), MONDO:MONDO:0005527(toxic encephalopathy) +PA445113 Neutropenia Neutropenias, Neutropenic disorder, Neutrophil count below reference range MeSH:D009503(Neutropenia), SnoMedCT:165517008(Neutropenia), SnoMedCT:303011007(Neutropenic disorder), UMLS:C0027947(C0027947), MedDRA:10029354(Neutropenia), NDFRT:N0000002182(Neutropenia [Disease/Finding]), MONDO:MONDO:0001475(neutropenia), HP:HP:0001875(Neutropenia) +PA446696 Nevi and Melanomas Melanomas and Nevi MeSH:D018326(Nevi and Melanomas), UMLS:C0206769(Nevi and Melanomas [Disease/Finding]), NDFRT:N0000003787(Nevi and Melanomas [Disease/Finding]), MONDO:MONDO:0021143(melanocytic neoplasm) +PA445118 Niemann-Pick Diseases """Cholesterol Lipidoses, Neuronal"", ""Cholesterol Lipidosis, Neuronal"", ""Classical Niemann Pick Disease"", ""Classical Niemann-Pick Disease"", ""Deficiency Disease, Sphingomyelinase"", ""Deficiency Diseases, Sphingomyelinase"", ""Disease, Sphingomyelinase Deficiency"", ""Diseases, Sphingomyelinase Deficiency"", ""Lipidoses, Neuronal Cholesterol"", ""Lipidosis, Neuronal Cholesterol"", ""Neimann Pick Disease"", ""Neimann-Pick Disease"", ""Neuronal Cholesterol Lipidoses"", ""Neuronal Cholesterol Lipidosis"", ""Niemann Pick Disease"", ""Niemann Pick Disease Type A"", ""Niemann Pick Disease Type B"", ""Niemann Pick Disease Type D"", ""Niemann Pick Disease, Acute Neuronopathic Form"", ""Niemann Pick Disease, Acute Neurovisceral Form"", ""Niemann Pick Disease, Adult Non Neuronopathic"", ""Niemann Pick Disease, Neuronopathic Type"", ""Niemann Pick Disease, Non Neuronopathic Type"", ""Niemann Pick Disease, Nova Scotian"", ""Niemann Pick Disease, Type C"", ""Niemann Pick Disease, Type E"", ""Niemann Pick Diseases"", ""Niemann Pick's Disease Type A"", ""Niemann Pick's Disease Type B"", ""Niemann Pick's Disease Type C"", ""Niemann Pick's Disease Type D"", ""Niemann Pick's Disease Type E"", ""Niemann-Pick Disease"", ""Niemann-Pick Disease Type A"", ""Niemann-Pick Disease Type B"", ""Niemann-Pick Disease Type D"", ""Niemann-Pick Disease, Acute Neuronopathic Form"", ""Niemann-Pick Disease, Acute Neurovisceral Form"", ""Niemann-Pick Disease, Adult Non-Neuronopathic"", ""Niemann-Pick Disease, Classical"", ""Niemann-Pick Disease, Neuronopathic Type"", ""Niemann-Pick Disease, Non-Neuronopathic Type"", ""Niemann-Pick Disease, Nova Scotian"", ""Niemann-Pick Disease, Type C"", ""Niemann-Pick Disease, Type E"", ""Niemann-Pick's Disease Type A"", ""Niemann-Pick's Disease Type B"", ""Niemann-Pick's Disease Type C"", ""Niemann-Pick's Disease Type D"", ""Niemann-Pick's Disease Type E"", ""Ophthalmoplegia, Supraoptic Vertical"", ""Ophthalmoplegias, Supraoptic Vertical"", ""Sphingolipidosis"", ""Sphingolipidosis, NOS"", ""Sphingomyelin lipidosis"", ""Sphingomyelinase Deficiency Disease"", ""Sphingomyelinase Deficiency Diseases"", ""Supraoptic Vertical Ophthalmoplegia"", ""Supraoptic Vertical Ophthalmoplegias"", ""Vertical Ophthalmoplegia, Supraoptic"", ""Vertical Ophthalmoplegias, Supraoptic""" MeSH:D009542(Niemann-Pick Diseases), SnoMedCT:58459009(Sphingomyelin/cholesterol lipidosis), UMLS:C0028064(C0028064), MedDRA:10029403(Niemann-Pick disease), NDFRT:N0000002187(Niemann-Pick Diseases [Disease/Finding]), MONDO:MONDO:0001982(Niemann-Pick disease) +PA445129 Night Blindness """Blindness, Night"", ""Difficulty seeing at night"", ""Night blindness"", ""Night blindness NOS"", ""Nyctalopia""" MeSH:D009755(Night Blindness), SnoMedCT:193686009(Unspecified night blindness), SnoMedCT:193693008(Night blindness NOS), SnoMedCT:65194006(Night blindness), UMLS:C0028077(C0028077), MedDRA:10005181(Blindness night), NDFRT:N0000002198(Night Blindness [Disease/Finding]), MONDO:MONDO:0004588(night blindness) +PA165108923 Nocardiosis NOS MeSH:D009617(Nocardia Infections), SnoMedCT:186404005(Nocardiosis NOS), UMLS:C0028242(C0028242), MedDRA:10064083(Nocardia infection), NDFRT:N0000002188(Nocardia Infections [Disease/Finding]), MONDO:MONDO:0017776(nocardiosis) +PA166401661 Nondystrophic myotonia NDM MONDO:MONDO:0054869(nondystrophic myotonia) +PA444845 Non-Hodgkin Lymphoma """Anaplastic large cell lymphoma, T/Null cell, primary cutaneous type"", ""Cutaneous T-cell lymphoma, large cell, CD30-positive"", ""Diffuse Lymphoma"", ""Diffuse Lymphomas"", ""Lymphatic Sarcoma"", ""Lymphatic Sarcomas"", ""Lymphoma, Diffuse"", ""Lymphoma, Non Hodgkin"", ""Lymphoma, Non Hodgkin's"", ""Lymphoma, Non Hodgkins"", ""Lymphoma, Non-Hodgkin"", ""Lymphoma, Non-Hodgkin's"", ""Lymphoma, Non-Hodgkins"", ""Lymphoma, Nonhodgkin"", ""Lymphoma, Nonhodgkin's"", ""Lymphoma, Nonhodgkins"", ""Lymphoma, Primary Cutaneous Anaplastic Large Cell"", ""Lymphomas, Diffuse"", ""Lymphosarcoma"", ""Lymphosarcoma [obs]"", ""Lymphosarcomas"", ""Malignant lymphoma, lymphocytic, intermediate differentiation, nodular [obs]"", ""Malignant lymphoma, non-Hodgkin's"", ""Malignant lymphoma, non-Hodgkin's type"", ""Malignant lymphoma, small cell, noncleaved, diffuse [obs]"", ""Malignant lymphoma, small cleaved cell, diffuse [obs]"", ""Malignant lymphoma, undifferentiated cell, non-Burkitt [obs]"", ""Non Hodgkin Lymphoma"", ""Non Hodgkin's Lymphoma"", ""Non-Hodgkin Lymphoma"", ""Non-Hodgkin lymphoma (category)"", ""Non-Hodgkin lymphoma - category"", ""Non-Hodgkin's Lymphoma"", ""Non-Hodgkin's lymphoma"", ""Non-Hodgkin's lymphoma (clinical)"", ""Non-Hodgkin's lymphoma - disorder"", ""Non-Hodgkin's lymphoma, NOS"", ""Non-Hodgkins Lymphoma"", ""Nonhodgkin's Lymphoma"", ""Nonhodgkins Lymphoma"", ""Primary cutaneous CD30+ large T-cell lymphoma"", ""Primary cutaneous anaplastic large T-cell lymphoma, CD30-positive"", ""Primary cutaneous anaplastic large cell lymphoma"", ""Sarcoma, Lymphatic"", ""Sarcomas, Lymphatic"", ""[M]Malignant lymphoma, non-Hodgkin's type""" """MeSH:D008228(Lymphoma, Non-Hodgkin)"", ""MeSH:D054446(Lymphoma, Primary Cutaneous Anaplastic Large Cell)"", ""SnoMedCT:118601006(Non-Hodgkin's lymphoma (clinical))"", ""SnoMedCT:128875000(Primary cutaneous CD30+ large T-cell lymphoma)"", ""SnoMedCT:128929007(Non-Hodgkin lymphoma (category))"", ""SnoMedCT:1929004(Non-Hodgkin lymphoma, no ICD-O subtype)"", ""SnoMedCT:397352006(Primary cutaneous anaplastic large cell lymphoma)"", ""UMLS:C0024305(C0024305)"", ""UMLS:C1301362(C1301362)"", ""MedDRA:10025311(Lymphoma (non-Hodgkin's))"", ""NDFRT:N0000001910(Lymphoma, Non-Hodgkin [Disease/Finding])"", ""MONDO:MONDO:0009975(reticulum cell sarcoma)"", ""MONDO:MONDO:0017598(primary cutaneous anaplastic large cell lymphoma)"", ""MONDO:MONDO:0018908(non-Hodgkin lymphoma)"", ""HP:HP:0012539(Non-Hodgkin lymphoma)""" +PA443622 Non-Small Cell Lung Carcinoma """Carcinoma, Non Small Cell Lung"", ""Carcinoma, Non-Small Cell Lung"", ""Carcinomas, Non-Small-Cell Lung"", ""Lung Carcinoma, Non-Small-Cell"", ""Lung Carcinomas, Non-Small-Cell"", ""NSCLC"", ""Non Small Cell Lung Carcinoma"", ""Non-Small-Cell Lung Carcinoma"", ""Non-Small-Cell Lung Carcinomas"", ""Non-small cell lung cancer""" """MeSH:D002289(Carcinoma, Non-Small-Cell Lung)"", ""SnoMedCT:254637007(Non-small cell lung cancer)"", ""UMLS:C0007131(C0007131)"", ""MedDRA:10061873(Non-small cell lung cancer)"", ""NDFRT:N0000000676(Carcinoma, Non-Small-Cell Lung [Disease/Finding])"", ""MONDO:MONDO:0005233(non-small cell lung carcinoma)"", ""HP:HP:0030358(Non-small cell lung carcinoma)""" +PA445123 Noonan Syndrome """Male Turner Syndrome"", ""Male Turner's Syndrome"", ""Noonan syndrome"", ""Turner Syndrome, Male"", ""Turner's Syndrome, Male"", ""Turner's phenotype, karyotype normal"", ""Turner-like syndrome"", ""Turners Syndrome, Male""" """MeSH:D009634(Noonan Syndrome)"", ""SnoMedCT:205684007(Turner's phenotype, karyotype normal)"", ""SnoMedCT:205824006(Noonan's syndrome)"", ""UMLS:C0028326(C0028326)"", ""MedDRA:10029748(Noonan syndrome)"", ""NDFRT:N0000002192(Noonan Syndrome [Disease/Finding])"", ""MONDO:MONDO:0018997(Noonan syndrome)""" +PA445127 Nutrition Disorders """Disorder of nutrition"", ""Disorder, Nutrition"", ""Disorders, Nutrition"", ""Malnutrition"", ""Nutrition Disorder"", ""Nutritional disease"", ""Nutritional disease, NOS"", ""Nutritional disorder"", ""Nutritional disorder, NOS""" MeSH:D009748(Nutrition Disorders), SnoMedCT:2492009(Nutritional disorder), UMLS:C0028709(C0028709), MedDRA:10027433(Metabolism and nutrition disorders), NDFRT:N0000002196(Nutrition Disorders [Disease/Finding]), MONDO:MONDO:0005137(nutritional disorder) +PA445131 Obesity Adiposis, Adiposity, Obese MeSH:D009765(Obesity), SnoMedCT:414915002(Obese), SnoMedCT:414916001(Obesity), UMLS:C0028754(C0028754), MedDRA:10029883(Obesity), NDFRT:N0000002200(Obesity [Disease/Finding]), HP:HP:0001513(Obesity) +PA447211 Obsessive-Compulsive Disorder Anancastic neurosis, Anankastic neurosis, OCD, Obsessive compulsive disorder, Obsessive compulsive neurosis, Obsessive-compulsive disorder, Obsessive-compulsive disorder NOS MeSH:D009771(Obsessive-Compulsive Disorder), SnoMedCT:191736004(Obsessive-compulsive disorder), SnoMedCT:191739006(Obsessive-compulsive disorder NOS), UMLS:C0028768(C0028768), MedDRA:10029898(Obsessive-compulsive disorder), NDFRT:N0000002203(Obsessive-Compulsive Disorder [Disease/Finding]), MONDO:MONDO:0008114(obsessive-compulsive disorder) +PA445137 Ocular Hypertension """Glaucoma, Suspect"", ""Glaucomas, Suspect"", ""Hypertension, Ocular"", ""Hypertensions, Ocular"", ""OH - Ocular hypertension"", ""Ocular Hypertensions"", ""Ocular hypertension"", ""Suspect Glaucoma"", ""Suspect Glaucomas""" MeSH:D009798(Ocular Hypertension), SnoMedCT:4210003(Ocular hypertension), UMLS:C0028840(C0028840), MedDRA:10020784(Hypertension ocular), NDFRT:N0000002207(Ocular Hypertension [Disease/Finding]), MONDO:MONDO:0006875(ocular hypertension), HP:HP:0007906(Ocular hypertension) +PA165108467 Ocular onchocerciasis River blindness """MeSH:D015827(Onchocerciasis, Ocular)"", ""SnoMedCT:240842000(Ocular onchocerciasis)"", ""UMLS:C0029002(C0029002)"", ""MedDRA:10039202(River blindness)"", ""NDFRT:N0000003330(Onchocerciasis, Ocular [Disease/Finding])"", ""MONDO:MONDO:0005878(ocular onchocerciasis)"", ""MONDO:MONDO:0017137(onchocerciasis)""" +PA445145 Oligospermia Azoospermia, Azoospermias, Oligospermias MeSH:D009845(Oligospermia), UMLS:C0028960(Oligospermia), MedDRA:10030300(Oligospermia), NDFRT:N0000002215(Oligospermia [Disease/Finding]), MONDO:MONDO:0001913(oligospermia) +PA445146 Oliguria Oligurias, Passes too little urine MeSH:D009846(Oliguria), SnoMedCT:207181002([D]Oliguria), SnoMedCT:83128009(Oliguria), UMLS:C0028961(C0028961), MedDRA:10030302(Oliguria), NDFRT:N0000002216(Oliguria [Disease/Finding]), HP:HP:0100520(Oliguria) +PA166048860 Onchocerciasis NDFRT:N0000002218(Onchocerciasis), MONDO:MONDO:0017137(onchocerciasis) +PA166048809 Onychomycosis NDFRT:N0000002959(Onychomycosis), HP:HP:0012203(Onychomycosis) +PA444282 Open-angle glaucoma """Compensated Glaucoma"", ""Compensated Glaucomas"", ""Compensative Glaucoma"", ""Compensative Glaucomas"", ""Glaucoma Simplex"", ""Glaucoma, Compensated"", ""Glaucoma, Compensative"", ""Glaucoma, Open Angle"", ""Glaucoma, Pigmentary"", ""Glaucoma, Simple"", ""Glaucomas, Compensated"", ""Glaucomas, Compensative"", ""Glaucomas, Open Angle"", ""Glaucomas, Open-Angle"", ""Glaucomas, Pigmentary"", ""Glaucomas, Simple"", ""Open Angle Glaucoma"", ""Open Angle Glaucomas"", ""Open-Angle Glaucoma"", ""Open-Angle Glaucomas"", ""Open-angle glaucoma NOS"", ""Pigmentary Glaucoma"", ""Pigmentary Glaucomas"", ""Simple Glaucoma"", ""Simple Glaucomas"", ""Simplex, Glaucoma"", ""Simplices, Glaucoma"", ""Wide-angle glaucoma"", ""Wide-angle glaucoma, NOS""" """MeSH:D005902(Glaucoma, Open-Angle)"", ""SnoMedCT:193538009(Unspecified open-angle glaucoma)"", ""SnoMedCT:193543002(Open-angle glaucoma NOS)"", ""SnoMedCT:46168003(Pigmentary glaucoma)"", ""SnoMedCT:84494001(Open-angle glaucoma)"", ""UMLS:C0017612(C0017612)"", ""MedDRA:10030348(Open angle glaucoma)"", ""NDFRT:N0000001346(Glaucoma, Open-Angle [Disease/Finding])"", ""MONDO:MONDO:0005338(open-angle glaucoma)""" +PA446471 Ophthalmoplegia, Chronic Progressive External """CPEO"", ""Chronic progressive ophthalmoplegia"", ""Disease, Graefe"", ""Dystrophies, Ocular Muscular"", ""Dystrophy, Ocular Muscular"", ""External Ophthalmoplegia, Progressive"", ""External Ophthalmoplegias, Progressive"", ""Graefe Disease"", ""Graefe's Disease"", ""Graefes Disease"", ""Mitochondrial Ocular Myopathies"", ""Mitochondrial Ocular Myopathy"", ""Muscular Dystrophies, Ocular"", ""Muscular Dystrophy, Ocular"", ""Myopathies, Mitochondrial Ocular"", ""Myopathy, Mitochondrial Ocular"", ""Ocular Muscular Dystrophies"", ""Ocular Muscular Dystrophy"", ""Ocular Myopathies, Mitochondrial"", ""Ocular Myopathy of Von Graefe Fuchs"", ""Ocular Myopathy of Von Graefe-Fuchs"", ""Ocular Myopathy, Mitochondrial"", ""Ophthalmoplegia, Progressive External"", ""Ophthalmoplegias, Progressive External"", ""Progressive External Ophthalmoplegia"", ""Progressive External Ophthalmoplegias""" """MeSH:D017246(Ophthalmoplegia, Chronic Progressive External)"", ""SnoMedCT:46252003(Progressive external ophthalmoplegia)"", ""UMLS:C0162674(C0162674)"", ""MedDRA:10036802(Progressive external ophthalmoplegia)"", ""NDFRT:N0000003562(Ophthalmoplegia, Chronic Progressive External [Disease/Finding])"", ""MONDO:MONDO:0005181(progressive external ophthalmoplegia)""" +PA445043 Opioid-Related Disorders """Abuse, Narcotic"", ""Abuses, Narcotic"", ""Addiction, Narcotic"", ""Addiction, Opiate"", ""Dependence, Narcotic"", ""Dependence, Opiate"", ""Disorder, Opioid-Related"", ""Narcotic Abuse"", ""Narcotic Abuses"", ""Narcotic Addiction"", ""Narcotic Dependence"", ""Opiate Addiction"", ""Opiate Dependence"", ""Opiate Use Disorder"", ""Opioid Dependence"", ""Opioid Use Disorder"", ""Opioid-induced organic mental disorder, NOS"", ""Opioid-related disorder"", ""Opioid-related disorder, NOS""" MeSH:D009293(Opioid-Related Disorders), SnoMedCT:14784000(Opioid-induced organic mental disorder), UMLS:C0027412(C0027412), NDFRT:N0000002109(Opioid-Related Disorders [Disease/Finding]), MONDO:MONDO:0005530(opiate dependence) +PA166048832 Opisthorchiasis NDFRT:N0000002224(Opisthorchiasis), MONDO:MONDO:0005884(opisthorchiasis) +PA152241932 Opitz-Kaveggia syndrome MeSH:C537923(Opitz-Kaveggia syndrome), MONDO:MONDO:0002010(FG syndrome), MONDO:MONDO:0010590(FG syndrome 1) +PA166348581 oppositional defiant disorder Defiant Disorder, Oppositional MeSH:D000096865(Oppositional Defiant Disorder), MONDO:MONDO:0000495(oppositional defiant disorder), HP:HP:0010865(Oppositional defiant disorder) +PA445156 Optic Atrophy """Atrophy, Optic"", ""OA - Optic atrophy"", ""Unspecified optic atrophy""" MeSH:D009896(Optic Atrophy), SnoMedCT:194042009(Unspecified optic atrophy), SnoMedCT:194046007(Optic atrophy NOS), SnoMedCT:76976005(Optic atrophy), UMLS:C0029124(C0029124), MedDRA:10003714(Atrophy optic), NDFRT:N0000002226(Optic Atrophy [Disease/Finding]), MONDO:MONDO:0003608(optic atrophy), HP:HP:0000648(Optic atrophy) +PA447177 Optic Atrophy, Hereditary, Leber """Leber Hereditary Optic Atrophy"", ""Leber Hereditary Optic Neuropathy"", ""Leber Optic Atrophy"", ""Leber's Hereditary Optic Atrophy"", ""Leber's Hereditary Optic Neuropathy"", ""Leber's Optic Atrophy"", ""Lebers Optic Atrophy"", ""Optic Atrophy, Leber"", ""Optic Atrophy, Leber's"", ""Optic Atrophy, Leber, Hereditary""" """MeSH:D029242(Optic Atrophy, Hereditary, Leber)"", ""SnoMedCT:58610003(Leber's optic atrophy)"", ""UMLS:C0917796(C0917796)"", ""MedDRA:10062951(Leber's hereditary optic atrophy neuropathy)"", ""NDFRT:N0000010951(Optic Atrophy, Hereditary, Leber [Disease/Finding])"", ""MONDO:MONDO:0010788(Leber hereditary optic neuropathy)""" +PA165108399 Oral aphthae NOS """MeSH:D013281(Stomatitis, Aphthous)"", ""SnoMedCT:196536003(Oral aphthae NOS)"", ""UMLS:C0038363(C0038363)"", ""MedDRA:10067589(Aphtha)"", ""NDFRT:N0000002833(Stomatitis, Aphthous [Disease/Finding])"", ""MONDO:MONDO:0005318(canker sore)""" +PA166048843 Oral Hemorrhage NDFRT:N0000001483(Oral Hemorrhage), HP:HP:0040184(Oral bleeding) +PA165108650 Oral submucosal fibrosis Oral submucous fibrosis MeSH:D009914(Oral Submucous Fibrosis), SnoMedCT:32883009(Oral submucosal fibrosis), UMLS:C0029172(C0029172), MedDRA:10031023(Oral submucosal fibrosis), NDFRT:N0000002230(Oral Submucous Fibrosis [Disease/Finding]), MONDO:MONDO:0018166(oral submucous fibrosis) +PA446815 Oral Ulcer """Mouth Ulcer"", ""Mouth Ulcers"", ""Oral Ulcers"", ""Oral ulcer"", ""Ulcer of mouth"", ""Ulcer, Mouth"", ""Ulcer, Oral"", ""Ulceration of oral mucosa"", ""Ulcers, Mouth"", ""Ulcers, Oral""" MeSH:D019226(Oral Ulcer), SnoMedCT:26284000(Ulcer of mouth), UMLS:C0149745(C0149745), MedDRA:10028033(Mouth ulcer), NDFRT:N0000003905(Oral Ulcer [Disease/Finding]), HP:HP:0000155(Oral ulcer) +PA133888799 Organ Transplantation MeSH:D016377(Organ Transplantation) +PA445168 Oropharyngeal Neoplasms """Cancer of Oropharnyx"", ""Cancer of the Oropharynx"", ""Cancer, Oropharyngeal"", ""Cancer, Oropharynx"", ""Cancers, Oropharyngeal"", ""Cancers, Oropharynx"", ""Neoplasm of oropharynx"", ""Neoplasm, Oropharyngeal"", ""Neoplasm, Oropharynx"", ""Neoplasms, Oropharyngeal"", ""Neoplasms, Oropharynx"", ""Oropharnyx Cancer"", ""Oropharnyx Cancers"", ""Oropharyngeal Cancer"", ""Oropharyngeal Cancers"", ""Oropharyngeal Neoplasm"", ""Oropharynx Cancer"", ""Oropharynx Cancers"", ""Oropharynx Neoplasm"", ""Oropharynx Neoplasms"", ""Tumor of oropharynx"", ""Tumour of oropharynx""" MeSH:D009959(Oropharyngeal Neoplasms), SnoMedCT:126809003(Neoplasm of oropharynx), UMLS:C0029295(C0029295), MedDRA:10057444(Oropharyngeal neoplasm), NDFRT:N0000002238(Oropharyngeal Neoplasms [Disease/Finding]), MONDO:MONDO:0004608(oropharynx cancer) +PA444585 Orthostatic Hypotension """Hypotension, Postural"", ""Orthostatic Hypotension"", ""Orthostatic hypotension"", ""Postural Hypotension""" """MeSH:D007024(Hypotension, Orthostatic)"", ""SnoMedCT:28651003(Orthostatic hypotension)"", ""UMLS:C0020651(C0020651)"", ""MedDRA:10021100(Hypotension orthostatic)"", ""NDFRT:N0000001650(Hypotension, Orthostatic [Disease/Finding])"", ""MONDO:MONDO:0005469(orthostatic hypotension)"", ""HP:HP:0001278(Orthostatic hypotension)""" +PA445172 Osteitis Deformans """Osteitis deformans"", ""Osteitis deformans without mention of bone tumor"", ""Paget Disease of Bone"", ""Paget Disease, Bone"", ""Paget's Disease of Bone"", ""Paget's disease NOS"", ""Paget's disease OS"", ""Paget's disease of bone"", ""Pagets Disease, Bone""" MeSH:D010001(Osteitis Deformans), SnoMedCT:203353000(Paget's disease OS), SnoMedCT:203354006(Paget's disease NOS), SnoMedCT:2089002(Osteitis deformans), UMLS:C0029401(C0029401), MedDRA:10031151(Osteitis deformans), NDFRT:N0000002242(Osteitis Deformans [Disease/Finding]), MONDO:MONDO:0005382(bone Paget disease) +PA445174 Osteoarthritis """Arthritides, Degenerative"", ""Arthritis, Degenerative"", ""Degenerative Arthritides"", ""Degenerative Arthritis"", ""Degenerative arthropathy"", ""Degenerative joint disease"", ""Degenerative polyarthritis"", ""Hypertrophic arthritis"", ""Hypertrophic polyarthritis"", ""OA - Osteoarthritis"", ""OA - Osteoarthrosis"", ""Osteoarthritides"", ""Osteoarthroses"", ""Osteoarthrosis"", ""Osteoarthrosis Deformans""" """MeSH:D010003(Osteoarthritis)"", ""SnoMedCT:201887006(Osteoarthritis NOS, of unspecified site)"", ""SnoMedCT:225655006(Degenerative polyarthritis)"", ""SnoMedCT:267893001(Osteoarthritis NOS)"", ""SnoMedCT:396275006(Osteoarthritis)"", ""UMLS:C0029408(C0029408)"", ""MedDRA:10049491(Degenerative joint disease)"", ""NDFRT:N0000002244(Osteoarthritis [Disease/Finding])"", ""MONDO:MONDO:0005178(osteoarthritis)"", ""HP:HP:0002758(Osteoarthritis)""" +PA447021 Osteoarthritis, Knee """Knee DJD"", ""Knee Osteoarthritides"", ""Knee Osteoarthritis"", ""OA - Osteoarthritis of knee"", ""Osteoarthritides, Knee"", ""Osteoarthritis NOS, of knee""" """MeSH:D020370(Osteoarthritis, Knee)"", ""SnoMedCT:201908002(Osteoarthritis NOS, of knee)"", ""SnoMedCT:239873007(Osteoarthritis of knee)"", ""UMLS:C0409959(C0409959)"", ""MedDRA:10023476(Knee osteoarthritis)"", ""NDFRT:N0000004127(Osteoarthritis, Knee [Disease/Finding])"", ""MONDO:MONDO:0005416(osteoarthritis, knee)"", ""HP:HP:0005086(Knee osteoarthritis)""" +PA445180 Osteogenesis Imperfecta """Disease, Lobstein"", ""Disease, Lobstein's"", ""Fragilitas Ossium"", ""Fragilitas ossium"", ""Lobstein Disease"", ""Lobstein's Disease"", ""Lobsteins Disease"", ""Ossiums, Fragilitas"", ""Osteogenesis imperfecta NOS""" MeSH:D010013(Osteogenesis Imperfecta), SnoMedCT:205498009(Osteogenesis imperfecta NOS), SnoMedCT:78314001(Osteogenesis imperfecta), UMLS:C0029434(C0029434), MedDRA:10006371(Brittle bone disease), NDFRT:N0000002250(Osteogenesis Imperfecta [Disease/Finding]), MONDO:MONDO:0019019(osteogenesis imperfecta) +PA166048923 Osteolysis NDFRT:N0000002251(Osteolysis), HP:HP:0002797(Osteolysis) +PA445185 Osteomalacia Osteomalacia unspecified, Osteomalacias MeSH:D010018(Osteomalacia), SnoMedCT:190642003(Osteomalacia unspecified), SnoMedCT:4598005(Osteomalacia), UMLS:C0029442(C0029442), MedDRA:10031250(Osteomalacia), NDFRT:N0000002255(Osteomalacia [Disease/Finding]), MONDO:MONDO:0001068(osteomalacia), HP:HP:0002749(Osteomalacia) +PA445187 Osteonecrosis """Aseptic Necrosis of Bone"", ""Avascular Necrosis of Bone"", ""Bone Aseptic Necrosis"", ""Bone Avascular Necrosis"", ""Bone necrosis"", ""Necrosis, Aseptic, of Bone"", ""Necrosis, Avascular, of Bone"", ""Osteonecroses""" MeSH:D010020(Osteonecrosis), SnoMedCT:240196003(Bone necrosis), UMLS:C0029445(C0029445), MedDRA:10005994(Bone necrosis), NDFRT:N0000002257(Osteonecrosis [Disease/Finding]), MONDO:MONDO:0005380(osteonecrosis) +PA166256642 Osteonecrosis of the jaw Bisphosphonate-Associated Osteonecrosis of the Jaw, ONJ, Osteonecrosis of jaw caused by drug (disorder) MeSH:D059266(Bisphosphonate-Associated Osteonecrosis of the Jaw), SnoMedCT:315801000119108(Osteonecrosis of jaw caused by drug), MedDRA:10064658(osteonecrosis of the jaw), MONDO:MONDO:0018378(osteonecrosis of the jaw) +PA445188 Osteopetrosis """Albers Schoenberg Disease"", ""Albers-Schoenberg Disease"", ""Disease, Albers-Schoenberg"", ""Disease, Marble Bone"", ""Marble Bone Disease"", ""Osteopetroses"", ""Osteopetrosis, NOS"", ""Osteosclerosis Fragilis""" MeSH:D010022(Osteopetrosis), SnoMedCT:1926006(Osteopetrosis), UMLS:C0029454(C0029454), MedDRA:10001556(Albers-Schonberg disease), NDFRT:N0000002258(Osteopetrosis [Disease/Finding]), MONDO:MONDO:0017198(osteopetrosis), HP:HP:0011002(Osteopetrosis) +PA445190 Osteoporosis """Age Related Osteoporosis"", ""Age-Related Bone Loss"", ""Age-Related Bone Losses"", ""Age-Related Osteoporoses"", ""Age-Related Osteoporosis"", ""Bone Loss, Age Related"", ""Bone Loss, Age-Related"", ""Bone Losses, Age-Related"", ""OP - Osteoporosis"", ""Osteoporoses"", ""Osteoporoses, Age-Related"", ""Osteoporoses, Senile"", ""Osteoporosis NOS"", ""Osteoporosis, Age Related"", ""Osteoporosis, Age-Related"", ""Osteoporosis, NOS"", ""Osteoporosis, Post Traumatic"", ""Osteoporosis, Post-Traumatic"", ""Osteoporosis, Senile"", ""Post-Traumatic Osteoporoses"", ""Post-Traumatic Osteoporosis"", ""Senile Osteoporoses"", ""Senile Osteoporosis""" """MeSH:D010024(Osteoporosis)"", ""SnoMedCT:203428004(Osteoporosis, unspecified)"", ""SnoMedCT:203440004(Osteoporosis NOS)"", ""SnoMedCT:64859006(Osteoporosis)"", ""UMLS:C0029456(C0029456)"", ""MedDRA:10031282(Osteoporosis)"", ""NDFRT:N0000002260(Osteoporosis [Disease/Finding])"", ""MONDO:MONDO:0005298(osteoporosis)"", ""HP:HP:0000939(Osteoporosis)""" +PA446214 Osteoporosis, Postmenopausal """Bone Loss, Perimenopausal"", ""Bone Loss, Postmenopausal"", ""Bone Losses, Perimenopausal"", ""Bone Losses, Postmenopausal"", ""Menopausal osteoporosis"", ""Osteoporoses, Post-Menopausal"", ""Osteoporoses, Postmenopausal"", ""Osteoporosis, Post Menopausal"", ""Osteoporosis, Post-Menopausal"", ""Perimenopausal Bone Loss"", ""Perimenopausal Bone Losses"", ""Post-Menopausal Osteoporoses"", ""Post-Menopausal Osteoporosis"", ""Postmenopausal Bone Loss"", ""Postmenopausal Bone Losses"", ""Postmenopausal Osteoporoses"", ""Postmenopausal Osteoporosis"", ""Postmenopausal osteoporosis"", ""Type I osteoporosis""" """MeSH:D015663(Osteoporosis, Postmenopausal)"", ""SnoMedCT:102447009(Postmenopausal osteoporosis)"", ""SnoMedCT:32369003(Menopausal osteoporosis)"", ""UMLS:C0029458(C0029458)"", ""MedDRA:10031285(Osteoporosis postmenopausal)"", ""NDFRT:N0000003303(Osteoporosis, Postmenopausal [Disease/Finding])"", ""MONDO:MONDO:0008159(postmenopausal osteoporosis)""" +PA445601 Osteosarcoma """Osteoblastic osteosarcoma"", ""Osteoblastic sarcoma"", ""Osteochondrosarcoma"", ""Osteogenic Sarcoma"", ""Osteogenic Sarcomas"", ""Osteogenic sarcoma"", ""Osteogenic sarcoma, NOS"", ""Osteosarcoma, no ICD-O subtype"", ""Osteosarcomas"", ""Sarcoma, Osteogenic"", ""Sarcomas, Osteogenic""" MeSH:D012516(Osteosarcoma), SnoMedCT:21708004(Osteosarcoma), UMLS:C0029463(C0029463), MedDRA:10031244(Osteogenic sarcoma), NDFRT:N0000002678(Osteosarcoma [Disease/Finding]), MONDO:MONDO:0009807(osteosarcoma), HP:HP:0002669(Osteosarcoma) +PA445196 Otitis Media Otitis media, Otitis media NOS MONDO:MONDO:0005441(otitis media), HP:HP:0000388(Otitis media) +PA445201 Otosclerosis """Otoscleroses"", ""Otosclerosis NOS"", ""Otosclerosis, NOS"", ""Otospongioses"", ""Otospongiosis"", ""Otospongiosis, NOS""" MeSH:D010040(Otosclerosis), SnoMedCT:11543004(Otosclerosis), SnoMedCT:194383003(Otosclerosis NOS), UMLS:C0029899(C0029899), MedDRA:10033103(Otosclerosis), NDFRT:N0000002271(Otosclerosis [Disease/Finding]), MONDO:MONDO:0005349(otosclerosis), HP:HP:0000362(Otosclerosis) +PA162263534 Ototoxicity SnoMedCT:9062008(Ototoxicity), UMLS:C0235280(C0235280), MedDRA:10033109(Ototoxicity), MONDO:MONDO:0001874(toxic labyrinthitis) +PA445202 Ovarian Cysts """Benign retention cyst"", ""Corpus Luteum Cyst"", ""Corpus Luteum Cysts"", ""Cyst of ovary"", ""Cyst, Corpus Luteum"", ""Cyst, Ovarian"", ""Cysts, Corpus Luteum"", ""Cysts, Ovarian"", ""Ovarian Cyst"", ""Ovarian retention cyst"", ""Ovarian retention cyst, NOS""" MeSH:D010048(Ovarian Cysts), SnoMedCT:198298009(Ovarian cyst NOS), SnoMedCT:79883001(Cyst of ovary), UMLS:C0029927(C0029927), MedDRA:10011746(Cyst of ovary), NDFRT:N0000002272(Ovarian Cysts [Disease/Finding]), MONDO:MONDO:0003282(ovarian cyst) +PA445203 Ovarian Diseases """Disease, Ovarian"", ""Diseases, Ovarian"", ""Ovarian Disease"", ""Ovarian disorder, NOS""" MeSH:D010049(Ovarian Diseases), SnoMedCT:5552004(Disorder of ovary), UMLS:C0029928(C0029928), MedDRA:10013249(Disorder ovarian), NDFRT:N0000002273(Ovarian Diseases [Disease/Finding]), MONDO:MONDO:0005558(ovarian disorder) +PA165108853 Ovarian hyperstimulation syndrome Secondary Meig's syndrome MeSH:D016471(Ovarian Hyperstimulation Syndrome), SnoMedCT:129635004(Ovarian hyperstimulation syndrome), UMLS:C0085083(C0085083), MedDRA:10033266(Ovarian hyperstimulation syndrome), NDFRT:N0000003417(Ovarian Hyperstimulation Syndrome [Disease/Finding]), MONDO:MONDO:0011972(ovarian hyperstimulation syndrome) +PA445204 Ovarian Neoplasms """Cancer of Ovary"", ""Cancer of the Ovary"", ""Cancer, Ovarian"", ""Cancer, Ovary"", ""Cancers, Ovarian"", ""Cancers, Ovary"", ""Neoplasm, Ovarian"", ""Neoplasm, Ovary"", ""Neoplasms, Ovarian"", ""Neoplasms, Ovary"", ""Ovarian Cancer"", ""Ovarian Cancers"", ""Ovarian Neoplasm"", ""Ovarian tumor"", ""Ovary Cancer"", ""Ovary Cancers"", ""Ovary Neoplasm"", ""Ovary Neoplasms"", ""Tumor of ovary"", ""Tumour of ovary""" MeSH:D010051(Ovarian Neoplasms), SnoMedCT:123843001(Neoplasm of ovary), UMLS:C0919267(C0919267), MedDRA:10033271(Ovarian neoplasia), NDFRT:N0000002274(Ovarian Neoplasms [Disease/Finding]), MONDO:MONDO:0008170(ovarian cancer) +PA166123207 overall survival UMLS:C0038954(Survival Rate) +PA166123298 over-anticoagulation +PA446199 Overdose Overdoses MeSH:D062787(Drug Overdose), SnoMedCT:55680006(Drug overdose), UMLS:C0029944(C0029944), MedDRA:10068719(Drug overdose), NDFRT:N0000003288(Overdose [Disease/Finding]) +PA165108105 Paget disease Paget cell neoplasm, Paget's disease MeSH:D010001(Osteitis Deformans), SnoMedCT:203354006(Paget's disease NOS), UMLS:C0029401(C0029401), MedDRA:10031151(Osteitis deformans), NDFRT:N0000002242(Osteitis Deformans [Disease/Finding]), MONDO:MONDO:0021165(Paget disease) +PA445207 Paget's Disease, Extramammary """Disease, Extra-Mammary Paget"", ""Disease, Extra-Mammary Paget's"", ""Disease, Extramammary Paget"", ""Disease, Extramammary Paget's"", ""Extra Mammary Paget Disease"", ""Extra Mammary Paget's Disease"", ""Extra-Mammary Paget Disease"", ""Extra-Mammary Paget's Disease"", ""Extra-Mammary Pagets Disease"", ""Extramammary Paget Disease"", ""Extramammary Paget's Disease"", ""Extramammary Pagets Disease"", ""Paget Disease, Extra Mammary"", ""Paget Disease, Extra-Mammary"", ""Paget Disease, Extramammary"", ""Paget's Disease, Extra Mammary"", ""Paget's Disease, Extra-Mammary"", ""Paget's disease of skin"", ""Paget's disease, extramammary (except Paget's disease of bone)"", ""Pagets Disease, Extra-Mammary"", ""Pagets Disease, Extramammary"", ""[M]Paget's disease, extramammary, excluding Paget's disease of bone""" MONDO:MONDO:0002655(cutaneous Paget disease), MONDO:MONDO:0008177(extramammary Paget disease) +PA445208 Pain """Ache"", ""Aches"", ""Burning Pain"", ""Burning Pains"", ""Crushing Pain"", ""Crushing Pains"", ""Dolor"", ""Migratory Pain"", ""Migratory Pains"", ""Pain observations"", ""Pain, Burning"", ""Pain, Crushing"", ""Pain, Migratory"", ""Pain, NOS"", ""Pain, Radiating"", ""Pain, Splitting"", ""Painful"", ""Pains, Burning"", ""Pains, Crushing"", ""Pains, Migratory"", ""Pains, Radiating"", ""Pains, Splitting"", ""Part hurts"", ""Physical Suffering"", ""Physical Sufferings"", ""Radiating Pain"", ""Radiating Pains"", ""Splitting Pain"", ""Splitting Pains"", ""Suffering, Physical"", ""Sufferings, Physical""" MeSH:D010146(Pain), SnoMedCT:22253000(Pain), UMLS:C0030193(C0030193), MedDRA:10033371(Pain), NDFRT:N0000002278(Pain [Disease/Finding]), HP:HP:0012531(Pain) +PA445210 Pain, Postoperative Postoperative Pain, Postoperative Pains, Postoperative pain """MeSH:D010149(Pain, Postoperative)"", ""SnoMedCT:213299007(Postoperative pain)"", ""UMLS:C0030201(C0030201)"", ""MedDRA:10036286(Post-operative pain)"", ""NDFRT:N0000002280(Pain, Postoperative [Disease/Finding])""" +PA445215 Pancreatic Diseases """Disease of pancreas"", ""Disease of pancreas, NOS"", ""Disease, Pancreatic"", ""Diseases, Pancreatic"", ""Disorder of pancreas, NOS"", ""Nesidioblastoses"", ""Nesidioblastosis"", ""Pancreatic Disease""" MeSH:D010182(Pancreatic Diseases), SnoMedCT:197469006(Diseases of pancreas NOS), SnoMedCT:3855007(Disorder of pancreas), UMLS:C0030286(C0030286), MedDRA:10013130(Diseases of pancreas), NDFRT:N0000002285(Pancreatic Diseases [Disease/Finding]), MONDO:MONDO:0002356(pancreas disorder) +PA445218 Pancreatic Neoplasms """Cancer of Pancreas"", ""Cancer of the Pancreas"", ""Cancer, Pancreas"", ""Cancer, Pancreatic"", ""Cancers, Pancreas"", ""Cancers, Pancreatic"", ""Neoplasm, Pancreas"", ""Neoplasm, Pancreatic"", ""Neoplasms, Pancreas"", ""Neoplasms, Pancreatic"", ""Pancreas Cancer"", ""Pancreas Cancers"", ""Pancreas Neoplasm"", ""Pancreas Neoplasms"", ""Pancreatic Cancer"", ""Pancreatic Cancers"", ""Pancreatic Neoplasm"", ""Tumor of pancreas"", ""Tumour of pancreas""" MeSH:D010190(Pancreatic Neoplasms), SnoMedCT:126859007(Neoplasm of pancreas), UMLS:C0030297(C0030297), MedDRA:10050255(Pancreas neoplasm NOS), NDFRT:N0000002288(Pancreatic Neoplasms [Disease/Finding]), MONDO:MONDO:0021040(pancreatic neoplasm) +PA445220 Pancreatitis Pancreatitides MeSH:D010195(Pancreatitis), SnoMedCT:75694006(Pancreatitis), UMLS:C0030305(C0030305), MedDRA:10033645(Pancreatitis), NDFRT:N0000002290(Pancreatitis [Disease/Finding]), MONDO:MONDO:0004982(pancreatitis), HP:HP:0001733(Pancreatitis) +PA445221 Pancytopenia Pancytopenia NOS, Pancytopenias MeSH:D010198(Pancytopenia), SnoMedCT:127034005(Pancytopenia), SnoMedCT:267528007(Pancytopenia NOS), UMLS:C0030312(C0030312), MedDRA:10065553(Bone marrow failure), NDFRT:N0000002291(Pancytopenia [Disease/Finding]), MONDO:MONDO:0001529(pancytopenia), HP:HP:0001876(Pancytopenia) +PA447212 Panic Disorder Episodic paroxysmal anxiety disorder, Panic disorder MeSH:D016584(Panic Disorder), SnoMedCT:371631005(Panic disorder), UMLS:C0030319(C0030319), MedDRA:10033666(Panic disorder), NDFRT:N0000003442(Panic Disorder [Disease/Finding]), MONDO:MONDO:0005383(panic disorder) +PA446149 Panniculitis, Lupus Erythematosus """Lupus Erythematosus Panniculitides"", ""Lupus Erythematosus Panniculitis"", ""Lupus Erythematosus Profundus"", ""Lupus Panniculitides"", ""Lupus Panniculitis"", ""Lupus Profundus"", ""Panniculitides, Lupus"", ""Panniculitides, Lupus Erythematosus"", ""Panniculitis, Lupus""" """MeSH:D015435(Panniculitis, Lupus Erythematosus)"", ""SnoMedCT:15084002(Lupus erythematosus profundus)"", ""SnoMedCT:239888002(Lupus panniculitis)"", ""UMLS:C0030327(C0030327)"", ""NDFRT:N0000003239(Panniculitis, Lupus Erythematosus [Disease/Finding])"", ""MONDO:MONDO:0019561(lupus erythematosus panniculitis)""" +PA445229 Paraganglioma """Gangliocytic Paraganglioma"", ""Gangliocytic Paragangliomas"", ""Gangliocytic paraganglioma"", ""Neoplasm of paraganglion"", ""Paraganglioma, Gangliocytic"", ""Paraganglioma, NOS"", ""Paragangliomas"", ""Paragangliomas, Gangliocytic"", ""[M]Gangliocytic paraganglioma""" MeSH:D010235(Paraganglioma), SnoMedCT:127027008(Neoplasm of paraganglion), SnoMedCT:253029009(Gangliocytic paraganglioma), SnoMedCT:302833002(Paraganglioma), SnoMedCT:72787006(Gangliocytic paraganglioma), SnoMedCT:803009(Paraganglioma), UMLS:C0030421(C0030421), MedDRA:10061332(Paraganglion neoplasm), NDFRT:N0000002299(Paraganglioma [Disease/Finding]), MONDO:MONDO:0000448(paraganglioma), HP:HP:0002668(Paraganglioma) +PA445233 Paralysis """Muscular paralysis"", ""Palsies"", ""Palsy"", ""Paralyses"", ""Paralysis NOS"", ""Paralysis, NOS"", ""Paralysis, Todd"", ""Paralysis, Todd's"", ""Plegia"", ""Plegias"", ""Todd Paralysis"", ""Todd's Paralysis"", ""Todds Paralysis""" MeSH:D010243(Paralysis), SnoMedCT:192978001(Paralysis NOS), SnoMedCT:44695005(Paralysis), UMLS:C0522224(C0522224), MedDRA:10033558(Palsy), NDFRT:N0000002303(Paralysis [Disease/Finding]), MONDO:MONDO:0006496(palsy), HP:HP:0003470(Paralysis) +PA447011 Paraparesis, Spastic """Lower Extremity Weakness, Spastic"", ""Parapareses, Spastic"", ""Spastic Lower Extremity Weakness"", ""Spastic Parapareses"", ""Spastic Paraparesis""" """MeSH:D020336(Paraparesis, Spastic)"", ""SnoMedCT:312444006(Spastic paraparesis)"", ""UMLS:C0037771(C0037771)"", ""MedDRA:10069208(Spastic paraparesis)"", ""NDFRT:N0000004117(Paraparesis, Spastic [Disease/Finding])"", ""HP:HP:0002313(Spastic paraparesis)""" +PA165109056 Parapsoriasis MeSH:D010267(Parapsoriasis), SnoMedCT:200980003(Parapsoriasis unspecified), UMLS:C0030491(C0030491), MedDRA:10033898(Parapsoriasis), NDFRT:N0000002318(Parapsoriasis [Disease/Finding]), MONDO:MONDO:0006592(parapsoriasis) +PA446743 Parasitemia Parasitemias MeSH:D018512(Parasitemia), UMLS:C0242723(Parasitemia [Disease/Finding]), NDFRT:N0000003832(Parasitemia [Disease/Finding]), MONDO:MONDO:0024314(parasitemia) +PA445246 Parasitic Diseases """Disease caused by parasite"", ""Disease caused by parasite, NOS"", ""Disease, Parasitic"", ""Diseases, Parasitic"", ""Infestation"", ""Infestation, NOS"", ""Parasite infestation"", ""Parasite infestation, NOS"", ""Parasitic Disease"", ""Parasitic disease"", ""Parasitic disease, NOS"", ""Parasitic infection"", ""Parasitic infection, NOS"", ""Parasitic infectious disease"", ""Parasitic infectious disease, NOS"", ""Parasitism"", ""Parasitism, NOS"", ""Parasitosis"", ""Parasitosis, NOS""" MeSH:D010272(Parasitic Diseases), SnoMedCT:17322007(Disease caused by parasite), UMLS:C0030499(C0030499), MedDRA:10065086(Parasitosis), NDFRT:N0000002319(Parasitic Diseases [Disease/Finding]), MONDO:MONDO:0005135(parasitic infectious disease) +PA445253 Paresthesia """Distal Paresthesia"", ""Distal Paresthesias"", ""Dysesthesia"", ""Dysesthesias"", ""Formication"", ""Formications"", ""Painful Paresthesia"", ""Painful Paresthesias"", ""Paresthesia, Distal"", ""Paresthesia, Painful"", ""Paresthesias"", ""Paresthesias, Distal"", ""Paresthesias, Painful"", ""[D]Paraesthesia"", ""[D]Paresthesia""" MeSH:D010292(Paresthesia), SnoMedCT:206857001([D]Paresthesia), SnoMedCT:91019004(Paresthesia), UMLS:C0030554(C0030554), MedDRA:10033775(Paraesthesia), NDFRT:N0000002326(Paresthesia [Disease/Finding]), HP:HP:0003401(Paresthesia) +PA445254 Parkinson Disease """Idiopathic Parkinson Disease"", ""Idiopathic Parkinson's Disease"", ""Idiopathic Parkinson's disease"", ""Idiopathic parkinsonism"", ""Lewy Body Parkinson Disease"", ""Lewy Body Parkinson's Disease"", ""Paralysis Agitans"", ""Paralysis agitans"", ""Parkinson Disease"", ""Parkinson Disease, Idiopathic"", ""Parkinson disease"", ""Parkinson's"", ""Parkinson's Disease"", ""Parkinson's Disease, Idiopathic"", ""Parkinson's Disease, Lewy Body"", ""Parkinson's disease"", ""Parkinson's disease NOS"", ""Parkinsonism, Primary"", ""Primary Parkinsonism"", ""Primary parkinsonism"", ""Shaking palsy""" MeSH:D010300(Parkinson Disease), SnoMedCT:192831003(Parkinson's disease NOS), SnoMedCT:49049000(Parkinson's disease), UMLS:C0030567(C0030567), MedDRA:10013113(Disease Parkinson's), NDFRT:N0000002327(Parkinson Disease [Disease/Finding]), MONDO:MONDO:0005180(Parkinson disease) +PA445256 Parkinson Disease, Secondary """Atherosclerotic Parkinsonism"", ""Drug-induced parkinsonism"", ""Parkinson Disease, Secondary Vascular"", ""Parkinson Disease, Symptomatic"", ""Parkinsonism, Atherosclerotic"", ""Parkinsonism, Secondary"", ""Parkinsonism, Symptomatic"", ""Secondary Parkinson Disease"", ""Secondary Parkinson disease"", ""Secondary Parkinson's disease"", ""Secondary Parkinsonism"", ""Secondary Vascular Parkinson Disease"", ""Secondary parkinsonism"", ""Symptomatic Parkinson Disease"", ""Symptomatic Parkinsonism""" """MeSH:D010302(Parkinson Disease, Secondary)"", ""SnoMedCT:230292008(Secondary parkinsonism)"", ""SnoMedCT:265377002(Symptomatic parkinsonism)"", ""UMLS:C0030569(C0030569)"", ""MedDRA:10039872(Secondary parkinsonism)"", ""NDFRT:N0000002329(Parkinson Disease, Secondary [Disease/Finding])"", ""MONDO:MONDO:0006966(secondary Parkinson disease)""" +PA447062 Parkinsonian Disorder """Autosomal Dominant Juvenile Parkinson Disease"", ""Autosomal Dominant Juvenile Parkinsonism"", ""Autosomal Dominant Parkinsonism"", ""Autosomal Recessive Juvenile Parkinson Disease"", ""Autosomal Recessive Parkinsonism"", ""Autosomal Recesssive Juvenile Parkinsonism"", ""Chromosome 6 Linked Autosomal Recessive Parkinsonism"", ""Chromosome 6-Linked Autosomal Recessive Parkinsonism"", ""Diseases, Experimental Parkinson"", ""Dominant Parkinsonism, Autosomal"", ""Experimental Parkinson Disease"", ""Experimental Parkinson Diseases"", ""Experimental Parkinsonism"", ""Experimental Parkinsonism, MPTP Induced"", ""Experimental Parkinsonism, MPTP-Induced"", ""Experimental Parkinsonisms"", ""Familial Juvenile Parkinsonism"", ""Familial Parkinson Disease, Autosomal Recessive"", ""Juvenile Parkinson Disease"", ""Juvenile Parkinson Disease, Autosomal Dominant"", ""Juvenile Parkinson Disease, Autosomal Recessive"", ""Juvenile Parkinsonism"", ""Juvenile Parkinsonism, Autosomal Dominant"", ""Juvenile Parkinsonism, Autosomal Recessive"", ""Juvenile Parkinsonism, Familial"", ""Juvenile Parkinsonisms"", ""MPTP Induced Experimental Parkinsonism"", ""MPTP-Induced Experimental Parkinsonism"", ""Parkinson Disease, Autosomal Dominant. Juvenile"", ""Parkinson Disease, Experimental"", ""Parkinson Disease, Familial, Autosomal Recessive"", ""Parkinson Disease, Juvenile"", ""Parkinson Disease, Juvenile, Autosomal Dominant"", ""Parkinson Diseases, Experimental"", ""Parkinsonian Diseases"", ""Parkinsonian Syndrome"", ""Parkinsonian Syndromes"", ""Parkinsonism"", ""Parkinsonism, Autosomal Dominant"", ""Parkinsonism, Autosomal Recessive"", ""Parkinsonism, Experimental"", ""Parkinsonism, Familial Juvenile"", ""Parkinsonism, Juvenile"", ""Parkinsonism, Juvenile, Autosomal Dominant"", ""Parkinsonism, Juvenile, Autosomal Recessive"", ""Parkinsonism, MPTP-Induced Experimental"", ""Parkinsonism, NOS"", ""Parkinsonisms, Experimental"", ""Parkinsonisms, Juvenile"", ""Ramsay Hunt Paralysis Syndrome"", ""Recessive Parkinsonism, Autosomal""" MeSH:D020734(Parkinsonian Disorders), SnoMedCT:32798002(Parkinsonism), UMLS:C0242422(C0242422), MedDRA:10034010(Parkinsonism), NDFRT:N0000004168(Parkinsonian Disorders [Disease/Finding]), MONDO:MONDO:0021095(parkinsonian disorder) +PA166122772 Paroxysmal nocturnal hemoglobinuria Marchiafava-Micheli syndrome, PNH, PNH - Paroxysmal nocturnal haemoglobinuria, PNH - Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal haemoglobinuria, Paroxysmal nocturnal hemoglobinuria (disorder) SnoMedCT:1963002(Paroxysmal nocturnal hemoglobinuria), MONDO:MONDO:0100244(paroxysmal nocturnal hemoglobinuria), HP:HP:0004818(Paroxysmal nocturnal hemoglobinuria) +PA443940 Patent Ductus Arteriosus """Arteriosus, Patent Ductus"", ""Patent Ductus Arteriosus"", ""Persistent ductus arteriosus""" """MeSH:D004374(Ductus Arteriosus, Patent)"", ""SnoMedCT:83330001(Patent ductus arteriosus)"", ""UMLS:C0013274(C0013274)"", ""MedDRA:10013807(Ductus arteriosus patent)"", ""NDFRT:N0000001003(Ductus Arteriosus, Patent [Disease/Finding])"", ""MONDO:MONDO:0011827(patent ductus arteriosus)"", ""HP:HP:0001643(Patent ductus arteriosus)""" +PA445130 Pathologic nystagmus """Alternating Nystagmus, Periodic"", ""Conjugate Nystagmus"", ""Convergence Nystagmus"", ""Dissociated Nystagmus"", ""Fatigable Positional Nystagmus"", ""Horizontal Nystagmus"", ""Jerk Nystagmus"", ""Multidirectional Nystagmus"", ""Non Fatigable Positional Nystagmus"", ""Non-Fatigable Positional Nystagmus"", ""Nystagmus"", ""Nystagmus, Conjugate"", ""Nystagmus, Convergence"", ""Nystagmus, Dissociated"", ""Nystagmus, Fatigable Positional"", ""Nystagmus, Horizontal"", ""Nystagmus, Jerk"", ""Nystagmus, Multidirectional"", ""Nystagmus, Non-Fatigable Positional"", ""Nystagmus, Pendular"", ""Nystagmus, Periodic Alternating"", ""Nystagmus, Permanent"", ""Nystagmus, Rebound"", ""Nystagmus, Retraction"", ""Nystagmus, Rotary"", ""Nystagmus, Rotational"", ""Nystagmus, See-Saw"", ""Nystagmus, Spontaneous Ocular"", ""Nystagmus, Symptomatic"", ""Nystagmus, Temporary"", ""Nystagmus, Unidirectional"", ""Nystagmus, Vertical"", ""Ocular Nystagmus, Spontaneous"", ""Pathologic Nystagmus"", ""Pendular Nystagmus"", ""Periodic Alternating Nystagmus"", ""Permanent Nystagmus"", ""Positional Nystagmus, Fatigable"", ""Positional Nystagmus, Non-Fatigable"", ""Rebound Nystagmus"", ""Retraction Nystagmus"", ""Rotary Nystagmus"", ""Rotational Nystagmus"", ""See Saw Nystagmus"", ""See-Saw Nystagmus"", ""Spontaneous Ocular Nystagmus"", ""Symptomatic Nystagmus"", ""Temporary Nystagmus"", ""Unidirectional Nystagmus"", ""Unspecified nystagmus"", ""Vertical Nystagmus""" """MeSH:D009759(Nystagmus, Pathologic)"", ""SnoMedCT:194172000(Unspecified nystagmus)"", ""SnoMedCT:563001(Nystagmus)"", ""UMLS:C0028738(C0028738)"", ""MedDRA:10029864(Nystagmus)"", ""NDFRT:N0000002199(Nystagmus, Pathologic [Disease/Finding])"", ""MONDO:MONDO:0004843(pathologic nystagmus)""" +PA164924624 Pelvic organ prolapse Pelvic Floor Disorders MeSH:D059952(Pelvic Floor Disorders), MedDRA:10034268(pelvic prolapse), cpgxTags:pgkbTags:1452102240(Maternal Health), HP:HP:0031607(Pelvic organ prolapse) +PA445273 Pemphigus Pemphigus NOS, Pemphigus Vulgaris MeSH:D010392(Pemphigus), SnoMedCT:200908008(Pemphigus NOS), SnoMedCT:65172003(Pemphigus), UMLS:C0030807(C0030807), MedDRA:10034280(Pemphigus), NDFRT:N0000002347(Pemphigus [Disease/Finding]), MONDO:MONDO:0006594(pemphigus) +PA152246679 Pendred syndrome Pendred Syndrome, Pendred's syndrome SnoMedCT:70348004(Pendred's syndrome), UMLS:C0271829(C0271829), MONDO:MONDO:0010134(Pendred syndrome) +PA447240 Peptic Ulcer Disease """GU - Gastric ulcer"", ""Gastric ulcer"", ""Gastric ulcer NOS"", ""Gastric ulceration"", ""Gastroduodenal Ulcer"", ""Gastroduodenal Ulcers"", ""Gastroduodenal ulcer"", ""Marginal Ulcer"", ""Marginal Ulcers"", ""PU - Peptic ulcer"", ""PUD - Peptic ulcer disease"", ""Peptic Ulcer"", ""Peptic Ulcers"", ""Peptic ulcer - (PU) site unspecified"", ""Peptic ulcer disease"", ""Peptic ulcer, NOS"", ""Peptic ulceration"", ""Stomach Ulcer"", ""Stomach ulcer"", ""Ulcer, Gastroduodenal"", ""Ulcer, Marginal"", ""Ulcer, Peptic"", ""Ulcers, Gastroduodenal"", ""Ulcers, Marginal"", ""Ulcers, Peptic"", ""Unspecified gastric ulcer"", ""Unspecified gastric ulcer NOS"", ""Unspecified peptic ulcer"", ""Unspecified peptic ulcer NOS"", ""peptic ulcer disease""" MeSH:D010437(Peptic Ulcer), SnoMedCT:13200003(Peptic ulcer), SnoMedCT:196697002(Unspecified peptic ulcer), SnoMedCT:196704007(Unspecified peptic ulcer NOS), SnoMedCT:196705008(Peptic ulcer NOS), SnoMedCT:266437002(Peptic ulcer -), UMLS:C0030920(C0030920), MedDRA:10017886(Gastroduodenal ulcer), NDFRT:N0000002351(Peptic Ulcer [Disease/Finding]), MONDO:MONDO:0004247(peptic ulcer disease) +PA445278 Peptic Ulcer Hemorrhage """Bleeding peptic ulcer"", ""Hemorrhage, Peptic Ulcer"", ""Peptic Ulcer Hemorrhages"", ""Peptic ulcer with haemorrhage"", ""Peptic ulcer with hemorrhage"", ""Peptic ulcer, NOS with hemorrhage"", ""Ulcer Hemorrhage, Peptic""" MeSH:D010438(Peptic Ulcer Hemorrhage), SnoMedCT:196699004(Unspecified peptic ulcer with hemorrhage), SnoMedCT:64121000(Peptic ulcer with haemorrhage), UMLS:C0030922(C0030922), MedDRA:10005130(Bleeding PU), NDFRT:N0000002352(Peptic Ulcer Hemorrhage [Disease/Finding]), MONDO:MONDO:0004242(active peptic ulcer disease) +PA445287 Pericardial Effusion """Chylopericardium"", ""Chylopericardiums"", ""Effusion, Pericardial"", ""Effusions, Pericardial"", ""Hemopericardium"", ""Pericardial Effusions""" MeSH:D010490(Pericardial Effusion), SnoMedCT:373945007(Pericardial effusion), UMLS:C0031039(C0031039), MedDRA:10014311(Effusion pericardial), NDFRT:N0000002361(Pericardial Effusion [Disease/Finding]), MONDO:MONDO:0001370(pericardial effusion), HP:HP:0001698(Pericardial effusion) +PA445288 Pericarditis """Pericarditides"", ""Pericarditis, NOS""" MeSH:D010493(Pericarditis), SnoMedCT:3238004(Pericarditis), UMLS:C0031046(C0031046), MedDRA:10034484(Pericarditis), NDFRT:N0000002362(Pericarditis [Disease/Finding]), MONDO:MONDO:0005904(pericarditis), HP:HP:0001701(Pericarditis) +PA165108626 Perinatal necrotizing enterocolitis Perinatal necrotising enterocolitis """MeSH:D020345(Enterocolitis, Necrotizing)"", ""SnoMedCT:397729009(Perinatal necrotizing enterocolitis)"", ""UMLS:C0520459(C0520459)"", ""MedDRA:10014899(Enterocolitis necrotising)"", ""NDFRT:N0000004121(Enterocolitis, Necrotizing [Disease/Finding])"", ""MONDO:MONDO:0004639(perinatal necrotizing enterocolitis)"", ""MONDO:MONDO:0005313(necrotizing enterocolitis)"", ""cpgxTags:pgkbTags:1452102240(Maternal Health)""" +PA445296 Periodontal Diseases """Disease, Periodontal"", ""Diseases, Periodontal"", ""Parodontoses"", ""Parodontosis"", ""Periodontal Disease"", ""Periodontal disease"", ""Periodontal disease, NOS"", ""Pyorrhea Alveolaris""" MeSH:D010510(Periodontal Diseases), SnoMedCT:2556008(Periodontal disease), UMLS:C0031090(C0031090), MedDRA:10034536(Periodontal disease), NDFRT:N0000002370(Periodontal Diseases [Disease/Finding]), MONDO:MONDO:0002635(periodontal disorder) +PA445298 Periodontitis Pericementitides, Pericementitis, Periodontitides MeSH:D010518(Periodontitis), SnoMedCT:41565005(Periodontitis), UMLS:C0031099(C0031099), MedDRA:10034539(Periodontitis), NDFRT:N0000002372(Periodontitis [Disease/Finding]), MONDO:MONDO:0005076(periodontitis), HP:HP:0000704(Periodontitis) +PA166176782 periorbital edema Edema around eye, Oedema around eye, Periorbital edema (disorder), Periorbital oedema SnoMedCT:49563000(Periorbital edema), HP:HP:0100539(Periorbital edema) +PA445301 Peripheral Nervous System Diseases """Disorder of the peripheral nervous system"", ""Disorder of the peripheral nervous system, NOS"", ""Nerve Disease, Peripheral"", ""Nerve Diseases, Peripheral"", ""Neuropathy"", ""Neuropathy, Peripheral"", ""PN - Peripheral neuropathy"", ""PNS (Peripheral Nervous System) Diseases"", ""PNS Disease"", ""PNS Diseases"", ""Peripheral Nerve Disease"", ""Peripheral Nerve Diseases"", ""Peripheral Nervous System Disease"", ""Peripheral Nervous System Disorders"", ""Peripheral Neuropathies"", ""Peripheral Neuropathy"", ""Peripheral nerve disease"", ""Peripheral nerve disorder"", ""Peripheral nervous system disorder NOS"", ""Peripheral neuropathy""" MeSH:D010523(Peripheral Nervous System Diseases), SnoMedCT:193264002(Peripheral nervous system disorder NOS), SnoMedCT:302226006(Peripheral nerve disease), SnoMedCT:42658009(Disorder of the peripheral nervous system), UMLS:C0031117(C0031117), MedDRA:10029331(Neuropathy peripheral), NDFRT:N0000002375(Peripheral Nervous System Diseases [Disease/Finding]), MONDO:MONDO:0003620(peripheral nervous system disorder), MONDO:MONDO:0005244(peripheral neuropathy) +PA153619833 Peripheral Vascular Diseases """Angiopathies, Peripheral"", ""Angiopathy, Peripheral"", ""Disease, Peripheral Vascular"", ""Diseases, Peripheral Vascular"", ""Livedo Reticularis"", ""Livedo racemosa"", ""Livedo reticularis"", ""PVD-peripheral vascular disease"", ""Peripheral Angiopathies"", ""Peripheral Angiopathy"", ""Peripheral Arterial Disease"", ""Peripheral Vascular Disease"", ""Peripheral Vascular Diseases"", ""Peripheral vascular disease"", ""Peripheral vascular disease NOS"", ""Vascular Disease, Peripheral"", ""Vascular Diseases, Peripheral""" MeSH:D016491(Peripheral Vascular Diseases), SnoMedCT:195311000(Peripheral vascular disease NOS), SnoMedCT:400047006(Peripheral vascular disease), UMLS:C0085096(C0085096), MedDRA:10009194(Circulatory disorder peripheral), NDFRT:N0000003422(Peripheral Vascular Diseases [Disease/Finding]), MONDO:MONDO:0005294(peripheral vascular disease) +PA447295 Peritoneum cancer Cancer of peritoneum, Malignant tumour of peritoneum, peritoneal cancer """SnoMedCT:363492001(Malignant tumor of peritoneum)"", ""UMLS:C0153467(C0153467)"", ""MedDRA:10026340(Malignant neoplasm of peritoneum, unspecified)"", ""MONDO:MONDO:0002087(peritoneum cancer)""" +PA445305 Peritonitis """Peritonitides"", ""Peritonitis of undetermined cause"", ""Peritonitis, NOS""" MeSH:D010538(Peritonitis), SnoMedCT:197188005(Peritonitis NOS), SnoMedCT:48661000(Peritonitis), UMLS:C0031154(C0031154), MedDRA:10034674(Peritonitis), NDFRT:N0000002379(Peritonitis [Disease/Finding]), MONDO:MONDO:0004522(peritonitis), HP:HP:0002586(Peritonitis) +PA152530787 Permanent Neonatal Diabetes """MeSH:C563425(Diabetes Mellitus, Permanent Neonatal)"", ""MONDO:MONDO:0100164(permanent neonatal diabetes mellitus)""" +PA162373036 Perry syndrome MeSH:C566822(Perry Syndrome), MedDRA:10079207(Perry syndrome), MONDO:MONDO:0008201(Perry syndrome) +PA165109139 Persistent fetal circulation syndrome MONDO:MONDO:0022430(persistent fetal circulation syndrome) +PA150527845 Persistent Hyperinsulinemia Hypoglycemia of Infancy Familial hyperinsulinaemia with pancreatic nesidioblastosis, Familial hyperinsulinemia with pancreatic nesidioblastosis, Hyperinsulinaemia due to nesidioblastosis, Hyperinsulinaemia due to pancreatic islet beta cell hyperplasia, Hyperinsulinemia due to nesidioblastosis, Hyperinsulinemia due to pancreatic islet beta cell hyperplasia, PHHI - Persistent hyperinsulinaemic hypoglycaemia of infancy, PHHI - Persistent hyperinsulinaemic hypoglycemia of infancy, PHHI - Persistent hyperinsulinemic hypoglycemia of infancy, Persistent hyperinsulinaemic hypoglycaemia of infancy, Persistent hyperinsulinaemic hypoglycemia of infancy, Persistent hyperinsulinemic hypoglycemia of infancy MeSH:D044903(Congenital Hyperinsulinism), SnoMedCT:360337007(PHHI - Persistent hyperinsulinemic hypoglycemia of infancy), SnoMedCT:360339005(Persistent hyperinsulinemic hypoglycemia of infancy), UMLS:C1257959(C1257959), NDFRT:N0000011154(Persistent Hyperinsulinemia Hypoglycemia of Infancy [Disease/Finding]), MONDO:MONDO:0005803(hyperinsulinemic hypoglycemia) +PA447213 Personality Disorder """Personality disorder"", ""Personality disorder NOS"", ""Personality disorder, NOS""" MeSH:D010554(Personality Disorders), SnoMedCT:268636006(Personality disorder NOS), SnoMedCT:33449004(Personality disorder), UMLS:C0031212(C0031212), MedDRA:10013256(Disorder personality), NDFRT:N0000002381(Personality Disorders [Disease/Finding]), MONDO:MONDO:0002028(personality disorder), HP:HP:0012075(Personality disorder) +PA445307 Peutz-Jeghers Syndrome """Lentiginoses, Perioral"", ""Lentiginosis, Perioral"", ""Perioral Lentiginoses"", ""Perioral Lentiginosis"", ""Periorificial lentiginosis syndrome"", ""Peutz Jegher's Syndrome"", ""Peutz Jeghers Syndrome"", ""Peutz-Jegher Syndrome"", ""Peutz-Jegher's Syndrome"", ""Syndrome, Peutz-Jegher's"", ""Syndrome, Peutz-Jeghers""" MeSH:D010580(Peutz-Jeghers Syndrome), SnoMedCT:54411001(Peutz-Jeghers syndrome), UMLS:C0031269(C0031269), MedDRA:10034764(Peutz-Jeghers syndrome), NDFRT:N0000002382(Peutz-Jeghers Syndrome [Disease/Finding]), MONDO:MONDO:0008280(Peutz-Jeghers syndrome) +PA165109089 Phantom limb syndrome Pseudomelia MeSH:D010591(Phantom Limb), SnoMedCT:59603003(Phantom limb syndrome), UMLS:C0031315(C0031315), MedDRA:10034803(Phantom limb (syndrome)), NDFRT:N0000002384(Phantom Limb [Disease/Finding]) +PA445312 Pharyngitis """Pharyngitides"", ""Sore Throat"", ""Sore Throats"", ""Throat, Sore""" MeSH:D010612(Pharyngitis), SnoMedCT:405737000(Pharyngitis), UMLS:C0031350(C0031350), MedDRA:10065716(Pharyngeal inflammation), NDFRT:N0000002387(Pharyngitis [Disease/Finding]), MONDO:MONDO:0002258(pharyngitis), HP:HP:0025439(Pharyngitis) +PA445314 Phenylketonurias """Atypical Phenylketonuria"", ""Atypical Phenylketonurias"", ""Classical Phenylketonuria"", ""Classical Phenylketonurias"", ""Deficiency Disease, Dihydropteridine Reductase"", ""Deficiency Disease, Phenylalanine Hydroxylase"", ""Deficiency Disease, Phenylalanine Hydroxylase, Severe"", ""Dihydropteridine Reductase Deficiency Disease"", ""Disease, Folling"", ""Disease, Folling's"", ""Diseases, Folling"", ""Folling Disease"", ""Folling Diseases"", ""Folling's Disease"", ""Hyperphenylalaninaemia"", ""Hyperphenylalaninaemias"", ""Hyperphenylalaninemia, Non Phenylketonuric"", ""Hyperphenylalaninemia, Non-Phenylketonuric"", ""Hyperphenylalaninemias, Non-Phenylketonuric"", ""IIs, Phenylketonuria"", ""Is, Phenylketonuria"", ""Non-Phenylketonuric Hyperphenylalaninemia"", ""Non-Phenylketonuric Hyperphenylalaninemias"", ""Phenylalanine Hydroxylase Deficiency Disease"", ""Phenylalanine Hydroxylase Deficiency Disease, Severe"", ""Phenylketonuria"", ""Phenylketonuria I"", ""Phenylketonuria II"", ""Phenylketonuria IIs"", ""Phenylketonuria Is"", ""Phenylketonuria, Atypical"", ""Phenylketonuria, Classical"", ""Phenylketonurias, Atypical"", ""Phenylketonurias, Classical""" MeSH:D010661(Phenylketonurias), UMLS:C0031485(Phenylketonurias [Disease/Finding]), NDFRT:N0000002389(Phenylketonurias [Disease/Finding]), MONDO:MONDO:0009861(phenylketonuria) +PA445315 Pheochromocytoma Chromaffin paraganglioma, Chromaffin tumor, Chromaffin tumour, Chromaffinoma, Phaeochromocytoma, Pheochromocytomas MeSH:D010673(Pheochromocytoma), SnoMedCT:302835009(Phaeochromocytoma), SnoMedCT:399343007(Chromaffinoma), SnoMedCT:85583005(Pheochromocytoma), UMLS:C0031511(C0031511), MedDRA:10034800(Phaeochromocytoma), NDFRT:N0000002390(Pheochromocytoma [Disease/Finding]), MONDO:MONDO:0008233(pheochromocytoma), HP:HP:0002666(Pheochromocytoma) +PA445316 Philadelphia Chromosome """1 Chromosome, Ph"", ""1 Chromosomes, Ph"", ""Chromosome, Ph 1"", ""Chromosome, Ph1"", ""Chromosome, Philadelphia"", ""Chromosomes, Ph 1"", ""Chromosomes, Ph1"", ""Ph 1 Chromosome"", ""Ph 1 Chromosomes"", ""Ph1 Chromosome"", ""Ph1 Chromosomes""" MeSH:D010677(Philadelphia Chromosome), UMLS:C0031526(Philadelphia Chromosome [Disease/Finding]), NDFRT:N0000002391(Philadelphia Chromosome [Disease/Finding]) +PA445318 Phlebitis Inflammation of vein, Periphlebitides, Periphlebitis, Phlebitides, Phlebitis NOS MeSH:D010689(Phlebitis), SnoMedCT:195432009(Phlebitis NOS), SnoMedCT:61599003(Phlebitis), UMLS:C0031542(C0031542), MedDRA:10034879(Phlebitis), NDFRT:N0000002393(Phlebitis [Disease/Finding]), MONDO:MONDO:0004625(phlebitis) +PA447085 Photophobia """Does not like light"", ""Eyes sensitive to light"", ""Light Sensitivities"", ""Light Sensitivity"", ""Light affects eyes"", ""Light intolerance"", ""Photophobias"", ""Sensitivities, Light"", ""Sensitivity, Light""" MeSH:D020795(Photophobia), SnoMedCT:246622003(Eyes sensitive to light), SnoMedCT:409668002(Photophobia), SnoMedCT:62481005(Light intolerance), UMLS:C0085636(C0085636), MedDRA:10034960(Photophobia), NDFRT:N0000004191(Photophobia [Disease/Finding]), HP:HP:0000613(Photophobia) +PA445320 Photosensitivity Disorders """Actinic Dermatitides"", ""Actinic Dermatitides, Chronic"", ""Actinic Dermatitis"", ""Actinic Dermatitis, Chronic"", ""Actinic Reticuloid Syndrome"", ""Actinic Reticuloid Syndromes"", ""Chronic Actinic Dermatitides"", ""Chronic Actinic Dermatitis"", ""Dermatitides, Actinic"", ""Dermatitides, Chronic Actinic"", ""Dermatitis, Actinic"", ""Dermatitis, Chronic Actinic"", ""Disorder, Photosensitivity"", ""Disorders, Photosensitivity"", ""Photodermatitides"", ""Photodermatitis"", ""Photodermatitis, NOS"", ""Photosensitivity Disorder"", ""Photosensitivity dermatitis"", ""Photosensitization"", ""Reticuloid Syndrome, Actinic"", ""Reticuloid Syndromes, Actinic"", ""Syndrome, Actinic Reticuloid"", ""Syndromes, Actinic Reticuloid""" MeSH:D010787(Photosensitivity Disorders), SnoMedCT:22649008(Photodermatitis), UMLS:C0031762(C0031762), NDFRT:N0000002396(Photosensitivity Disorders [Disease/Finding]), MONDO:MONDO:0006597(photosensitivity disease) +PA447218 Physiological sexual disorder """Sexual Dysfunction, Physiological"", ""sexual dysfunction""" """MeSH:D012735(Sexual Dysfunction, Physiological)"", ""UMLS:C0237873(Physiological sexual disorder)"", ""MedDRA:10040477(Sexual dysfunction)"", ""MONDO:MONDO:0002134(physiological sexual disorder)""" +PA447077 Pick Disease of the Brain """Atrophies, Lobar (Brain)"", ""Atrophy, Lobar (Brain)"", ""Brain Atrophy, Circumscribed Lobar"", ""Circumscribed Lobar Atrophy of the Brain"", ""Circumscribed cerebral atrophy"", ""Disease, Pick"", ""Disease, Pick's"", ""Lobar Atrophies (Brain)"", ""Lobar Atrophy (Brain)"", ""Pick Disease"", ""Pick's Disease"", ""Pick's disease"", ""Picks Disease"", ""Picks Disease of Brain""" MeSH:D020774(Pick Disease of the Brain), SnoMedCT:13092008(Pick's disease), UMLS:C0236642(C0236642), MedDRA:10009204(Circumscribed cerebral atrophy), NDFRT:N0000004183(Pick Disease of the Brain [Disease/Finding]), MONDO:MONDO:0008243(Pick disease) +PA445325 Pigmentation Disorders """Disease, Schamberg"", ""Disease, Schamberg's"", ""Disorder, Pigmentation"", ""Disorders, Pigmentation"", ""Dyschromia NOS"", ""Incontinentia Pigmenti Achromians"", ""Ito Syndrome"", ""Pigment alteration"", ""Pigmentation Disorder"", ""Schamberg Disease"", ""Schamberg's Disease"", ""Schambergs Disease"", ""Syndrome, Ito""" MeSH:D010859(Pigmentation Disorders), SnoMedCT:201293006(Dyschromia NOS), SnoMedCT:414032001(Disorder of pigmentation), SnoMedCT:79644001(Pigment alteration), UMLS:C0549567(C0549567), MedDRA:10013893(Dyschromia), NDFRT:N0000002402(Pigmentation Disorders [Disease/Finding]), MONDO:MONDO:0006562(obsolete incontinentia pigmenti achromians), MONDO:MONDO:0019288(skin pigmentation disorder) +PA152238062 Pitt-Hopkins Syndrome MeSH:C537403(Pitt-Hopkins syndrome), SnoMedCT:702344008(Pitt-Hopkins syndrome), MONDO:MONDO:0012589(Pitt-Hopkins syndrome) +PA152210107 Pituitary adenoma Adenoma, Pituitary """SnoMedCT:128664001(Pituitary adenoma, no ICD-O subtype)"", ""UMLS:C0032000(C0032000)"", ""MedDRA:10035079(Pituitary adenoma)"", ""MONDO:MONDO:0006373(pituitary gland adenoma)"", ""HP:HP:0002893(Pituitary adenoma)""" +PA165108205 Pityriasis rosea Pityriasis circinata et maculata MONDO:MONDO:0006601(pityriasis rosea) +PA165108219 Pityriasis versicolor MONDO:MONDO:0005915(pityriasis versicolor) +PA445338 Plague """Black death"", ""Bubonic Plague"", ""Infection by Yersinia pestis"", ""Meningeal Plague"", ""Meningeal Plagues"", ""Pest"", ""Pestilential fever"", ""Plague unspecified"", ""Plague, Bubonic"", ""Plague, Meningeal"", ""Plague, NOS"", ""Plague, Pneumonic"", ""Plague, Pulmonic"", ""Plagues, Meningeal"", ""Plagues, Pneumonic"", ""Plagues, Pulmonic"", ""Pneumonic Plague"", ""Pneumonic Plagues"", ""Pulmonic Plague"", ""Pulmonic Plagues""" MeSH:D010930(Plague), SnoMedCT:186290009(Plague unspecified), SnoMedCT:58750007(Plague), UMLS:C0032064(C0032064), MedDRA:10035148(Plague), NDFRT:N0000002415(Plague [Disease/Finding]), MONDO:MONDO:0019095(plague) +PA166123766 platelet aggregation """Platelet aggregation, function"", ""Platelet aggregation, function (observable entity)""" SnoMedCT:60649002(Platelet aggregation) +PA166128371 platelet aggregation inhibition MedDRA:10050661(Platelet aggregation inhibition) +PA166124406 platelet reactivity +PA445344 Pleural Effusion """Effusion, Pleural"", ""Effusions, Pleural"", ""Pleural Effusions"", ""Pleural effusion"", ""Pleural effusion NOS""" MeSH:D010996(Pleural Effusion), SnoMedCT:196097001(Pleural effusion NOS), SnoMedCT:60046008(Pleural effusion), UMLS:C0032227(C0032227), MedDRA:10014313(Effusion pleural), NDFRT:N0000002421(Pleural Effusion [Disease/Finding]), HP:HP:0002202(Pleural effusion) +PA446266 Pleural Effusion, Malignant """Effusion, Malignant Pleural"", ""Effusions, Malignant Pleural"", ""Malignant Pleural Effusion"", ""Malignant Pleural Effusions"", ""Malignant pleural effusion"", ""Neoplastic pleural effusion"", ""Pleural Effusions, Malignant""" """MeSH:D016066(Pleural Effusion, Malignant)"", ""SnoMedCT:83270006(Neoplastic pleural effusion)"", ""UMLS:C0080032(C0080032)"", ""MedDRA:10026673(Malignant pleural effusion)"", ""NDFRT:N0000003355(Pleural Effusion, Malignant [Disease/Finding])"", ""HP:HP:6001078(Malignant pleural effusion)""" +PA166048790 Pneumococcal Infections NDFRT:N0000002430(Pneumococcal Infections), MONDO:MONDO:0005114(pneumococcal infection) +PA446370 Pneumocystis Infections """Infection by Pneumocystis carinii"", ""PCP - Pneumocystis pneumonia"", ""Pneumocystis carinii Infection"", ""Pneumocystis carinii Infections"", ""Pneumocystosis jiroveci pneumonia"", ""Pneumocystosis pneumonia"", ""Pneumocytosis"", ""Pneumonia, Pneumocystis"", ""Pulmonary pneumocystosis""" MeSH:D016720(Pneumocystis Infections), SnoMedCT:111918002(Infection by Pneumocystis carinii), UMLS:C0851886(C0851886), MedDRA:10035658(Pneumocystis carinii infection), NDFRT:N0000011153(Pneumocystis Infections [Disease/Finding]), MONDO:MONDO:0005923(Pneumocystis infectious disease) +PA445355 Pneumonia """Experimental Lung Inflammation"", ""Experimental Lung Inflammations"", ""Inflammation, Experimental Lung"", ""Inflammation, Lung"", ""Inflammation, Pulmonary"", ""Inflammations, Lung"", ""Inflammations, Pulmonary"", ""Lung Inflammation"", ""Lung Inflammation, Experimental"", ""Lung Inflammations"", ""Lung Inflammations, Experimental"", ""Pneumonias"", ""Pneumonitides"", ""Pneumonitis"", ""Pulmonary Inflammation"", ""Pulmonary Inflammations""" MeSH:D011014(Pneumonia), SnoMedCT:205237003(Pneumonitis), SnoMedCT:233604007(Pneumonia), SnoMedCT:274103002(Pneumonia NOS), UMLS:C0032285(C0032285), MedDRA:10035664(Pneumonia), NDFRT:N0000002432(Pneumonia [Disease/Finding]), MONDO:MONDO:0005249(pneumonia), HP:HP:0002090(Pneumonia) +PA446721 Pneumonia, Bacterial """Bacterial Pneumonia"", ""Bacterial Pneumonias"", ""Bacterial pneumonia"", ""Bacterial pneumonia, NOS"", ""Pneumonia due to bacteria NOS"", ""Pneumonias, Bacterial""" """MeSH:D018410(Pneumonia, Bacterial)"", ""SnoMedCT:195891009(Pneumonia due to bacteria NOS)"", ""SnoMedCT:195892002(Bacterial pneumonia NOS)"", ""SnoMedCT:53084003(Bacterial pneumonia)"", ""UMLS:C0004626(C0004626)"", ""MedDRA:10004051(Bacterial pneumonia, unspecified)"", ""NDFRT:N0000003812(Pneumonia, Bacterial [Disease/Finding])"", ""MONDO:MONDO:0004652(bacterial pneumonia)""" +PA166048876 Pneumonia, Mycoplasma """NDFRT:N0000002436(Pneumonia, Mycoplasma)"", ""MONDO:MONDO:0005867(Mycoplasma pneumoniae pneumonia)""" +PA166048849 Pneumonia, Pneumococcal """NDFRT:N0000002435(Pneumonia, Pneumococcal)"", ""MONDO:MONDO:0005972(streptococcal pneumonia)""" +PA445361 Pneumonia, Pneumocystis """PCP - Pneumocystis pneumonia"", ""Pneumocystis carinii"", ""Pneumocystis carinii Pneumonia"", ""Pneumocystis carinii Pneumonias"", ""Pneumocystoses"", ""Pneumocystosis"", ""Pneumocystosis jiroveci pneumonia"", ""Pneumocystosis pneumonia"", ""Pneumocytosis"", ""Pneumonia, Interstitial Plasma Cell"", ""Pneumonia, Pneumocystis carinii"", ""Pneumonias, Pneumocystis carinii"", ""Pulmonary pneumocystosis""" """MeSH:D011020(Pneumonia, Pneumocystis)"", ""SnoMedCT:415125002(Pneumocystosis pneumonia)"", ""SnoMedCT:88860002(Pneumocystosis)"", ""UMLS:C0032305(C0032305)"", ""MedDRA:10051460(Interstitial plasma cell pneumonia)"", ""NDFRT:N0000002437(Pneumonia, Pneumocystis [Disease/Finding])"", ""MONDO:MONDO:0019121(pneumocystosis)""" +PA166124223 Pneumonitis MedDRA:10035742(Pneumonitis), MONDO:MONDO:0043905(pneumonitis) +PA445368 Pneumothorax """Pneumothorax NOS"", ""Pneumothorax, NOS"", ""Pneumothoraxs""" MeSH:D011030(Pneumothorax), SnoMedCT:196106000(Pneumothorax NOS), SnoMedCT:36118008(Pneumothorax), UMLS:C0032326(C0032326), MedDRA:10035759(Pneumothorax), NDFRT:N0000002444(Pneumothorax [Disease/Finding]), MONDO:MONDO:0002076(pneumothorax), HP:HP:0002107(Pneumothorax) +PA445371 Poisoning Intoxication, Intoxications, Poisonings MeSH:D011041(Poisoning), SnoMedCT:75478009(Poisoning), UMLS:C0032343(C0032343), MedDRA:10061355(Poisoning), NDFRT:N0000002447(Poisoning [Disease/Finding]), MONDO:MONDO:0029000(poisoning) +PA165108488 Polyarteritis nodosa NOS MeSH:D010488(Polyarteritis Nodosa), SnoMedCT:286960005(Polyarteritis nodosa NOS), UMLS:C0031036(C0031036), MedDRA:10023500(Kussmaul's disease), NDFRT:N0000002359(Polyarteritis Nodosa [Disease/Finding]), MONDO:MONDO:0019170(polyarteritis nodosa) +PA445375 Polychondritis, Relapsing """Atrophic Polychondritides, Chronic"", ""Atrophic Polychondritis, Chronic"", ""Chronic Atrophic Polychondritides"", ""Chronic Atrophic Polychondritis"", ""Chronic polychondritis"", ""Meyenburg-Altherr-Uehlinger syndrome"", ""Polychondritides, Chronic Atrophic"", ""Polychondritides, Relapsing"", ""Polychondritis, Chronic Atrophic"", ""Relapsing Polychondritides"", ""Relapsing Polychondritis"", ""Systemic chondromalacia""" """MeSH:D011081(Polychondritis, Relapsing)"", ""SnoMedCT:72275000(Relapsing polychondritis)"", ""UMLS:C0032453(C0032453)"", ""MedDRA:10008835(Chronic atrophic polychondritis)"", ""NDFRT:N0000002451(Polychondritis, Relapsing [Disease/Finding])"", ""MONDO:MONDO:0019125(relapsing polychondritis)""" +PA446413 Polycystic Kidney, Autosomal Dominant """ADPKD"", ""ADPKD - Autosomal dominant polycystic kidney disease"", ""Adult Polycystic Kidney Disease"", ""Adult Polycystic Kidney Disease Type 1"", ""Adult Polycystic Kidney Disease Type 2"", ""Autosomal Dominant Polycystic Kidney"", ""Autosomal dominant polycystic kidney disease"", ""Kidney, Polycystic, Autosomal Dominant"", ""Polycystic Kidney Disease, Autosomal Dominant"", ""Polycystic Kidney, Type 1 Autosomal Dominant Disease"", ""Polycystic Kidney, Type 2 Autosomal Dominant Disease"", ""Polycystic kidney disease, adult type"", ""Polycystic kidneys - adult type""" """MeSH:D016891(Polycystic Kidney, Autosomal Dominant)"", ""SnoMedCT:28728008(Polycystic kidney disease, adult type)"", ""UMLS:C0085413(C0085413)"", ""MedDRA:10036046(Polycystic kidney, autosomal dominant)"", ""NDFRT:N0000003504(Polycystic Kidney, Autosomal Dominant [Disease/Finding])"", ""MONDO:MONDO:0004691(autosomal dominant polycystic kidney disease)""" +PA446429 Polycystic Kidney, Autosomal Recessive """ARPKD"", ""Autosomal Recessive Polycystic Kidney"", ""Autosomal Recessive Polycystic Kidney Disease"", ""Kidney, Polycystic, Autosomal Recessive""" """MeSH:D017044(Polycystic Kidney, Autosomal Recessive)"", ""SnoMedCT:28770003(Polycystic kidney disease, infantile type)"", ""UMLS:C0085548(C0085548)"", ""MedDRA:10036047(Polycystic kidney, autosomal recessive)"", ""NDFRT:N0000003520(Polycystic Kidney, Autosomal Recessive [Disease/Finding])"", ""MONDO:MONDO:0009889(autosomal recessive polycystic kidney disease)""" +PA445376 Polycystic Ovary Syndrome """Ovary Syndrome, Polycystic"", ""PCO - Polycystic ovaries"", ""PCOS - Polycystic ovarian syndrome"", ""Polycystic ovarian syndrome"", ""Polycystic ovaries"", ""Sclerocystic ovary syndrome"", ""Stein Leventhal Syndrome"", ""Stein-Leventhal Syndrome"", ""Stein-Leventhal syndrome"", ""Syndrome, Polycystic Ovary"", ""Syndrome, Stein-Leventhal""" MeSH:D011085(Polycystic Ovary Syndrome), SnoMedCT:69878008(Polycystic ovaries), UMLS:C0032460(C0032460), MedDRA:10065161(Polycystic ovarian syndrome), NDFRT:N0000002452(Polycystic Ovary Syndrome [Disease/Finding]), MONDO:MONDO:0008487(polycystic ovary syndrome) +PA445377 Polycythemia Erythrocytoses, Erythrocytosis, Polycythemias MeSH:D011086(Polycythemia), UMLS:C0032461(Polycythemia), MedDRA:10036058(Polycythemia), NDFRT:N0000002453(Polycythemia [Disease/Finding]), MONDO:MONDO:0005571(polycythemia), HP:HP:0001901(Polycythemia) +PA445378 Polycythemia Vera """Chronic erythraemia [obs]"", ""Chronic erythremia [obs]"", ""Disease, Osler-Vaquez"", ""Erythremia"", ""Erythremias"", ""Erythrocythaemia"", ""Erythrocythemia"", ""Osler Vaquez Disease"", ""Osler's disease"", ""Osler-Vaquez Disease"", ""PPP - Primary proliferative polycythaemia"", ""PPP - Primary proliferative polycythemia"", ""PRV - Polycythaemia rubra vera"", ""PRV - Polycythemia rubra vera"", ""Polycythaemia rubra vera"", ""Polycythaemia vera"", ""Polycythaemia vera (clinical)"", ""Polycythemia rubra vera"", ""Polycythemia vera"", ""Polycythemia vera (clinical)"", ""Primary polycythaemia"", ""Primary proliferative polycythaemia"", ""Proliferative polycythaemia"", ""Proliferative polycythemia"", ""Vaquez's disease""" MeSH:D011087(Polycythemia Vera), SnoMedCT:109992005(Polycythaemia vera (clinical)), SnoMedCT:128841001(Polycythemia vera), UMLS:C0032463(C0032463), MedDRA:10036056(Polycythaemia rubra vera), NDFRT:N0000002454(Polycythemia Vera [Disease/Finding]), MONDO:MONDO:0009891(acquired polycythemia vera) +PA166308901 Polypharmacy Polymedication MeSH:D019338(Polypharmacy), SnoMedCT:129846003(Polypharmacy) +PA445382 Polyps """Polyp"", ""Polyp, NOS""" MeSH:D011127(Polyps), SnoMedCT:41329004(Polyp), SnoMedCT:441456002(Polyp), UMLS:C0032584(C0032584), MedDRA:10061529(Polyp), NDFRT:N0000002458(Polyps [Disease/Finding]), MONDO:MONDO:0005079(polyp) +PA445385 Polyuria Increased urine volume, Passes too much urine, Polyurias, Urine output high, [D]Polyuria MeSH:D011141(Polyuria), SnoMedCT:207177002([D]Polyuria), SnoMedCT:28442001(Polyuria), SnoMedCT:56574000(Polyuric state), UMLS:C0032617(C0032617), MedDRA:10013524(Diuresis excessive), NDFRT:N0000002461(Polyuria [Disease/Finding]), HP:HP:0000103(Polyuria) +PA153627462 Pontocerebellar Hypoplasia MONDO:MONDO:0020135(pontocerebellar hypoplasia) +PA166048717 Porphyria, Acute Intermittent """NDFRT:N0000003536(Porphyria, Acute Intermittent)"", ""MONDO:MONDO:0008294(acute intermittent porphyria)""" +PA446446 Porphyria Cutanea Tarda Cutaneous hepatic porphyria, PCT, PCT - Porphyria cutanea tarda, Porphyria cutanea tarda symptomatica, UROD deficiency MeSH:D017119(Porphyria Cutanea Tarda), SnoMedCT:61860000(Porphyria cutanea tarda), UMLS:C0162566(C0162566), MedDRA:10011665(Cutaneous hepatic porphyria), NDFRT:N0000003537(Porphyria Cutanea Tarda [Disease/Finding]), MONDO:MONDO:0015104(porphyria cutanea tarda) +PA446447 Porphyria, Hepatoerythropoietic """Erythrohepatic Porphyria"", ""Erythrohepatic Porphyrias"", ""Erythropoietic Protoporphyria"", ""Erythropoietic Protoporphyrias"", ""Porphyria, Erythrohepatic"", ""Porphyrias, Erythrohepatic"", ""Protoporphyria, Erythropoietic"", ""Protoporphyrias, Erythropoietic""" """MeSH:D017121(Porphyria, Hepatoerythropoietic)"", ""UMLS:C0162569(Porphyria, Hepatoerythropoietic [Disease/Finding])"", ""NDFRT:N0000003538(Porphyria, Hepatoerythropoietic [Disease/Finding])"", ""MONDO:MONDO:0019799(hepatoerythropoietic porphyria)""" +PA445388 Porphyrias """Disorder of porphyrin and haem metabolism"", ""Disorder of porphyrin metabolism"", ""Disorder of porphyrin metabolism, NOS"", ""Porphyria"", ""Porphyria NOS"", ""Porphyrias"", ""Porphyrinopathy"", ""Protoporphyria, Erythropoietic""" MeSH:D011164(Porphyrias), SnoMedCT:190916001(Porphyria NOS), SnoMedCT:29094004(Disorder of porphyrin metabolism), SnoMedCT:371628009(Porphyrinopathy), SnoMedCT:418470004(Porphyria), UMLS:C0032708(C0032708), MedDRA:10013349(Disorders of porphyrin metabolism), NDFRT:N0000002464(Porphyrias [Disease/Finding]), MONDO:MONDO:0019142(inherited porphyria), MONDO:MONDO:0037939(porphyria), MONDO:MONDO:1030015(acquired porphyria) +PA165108572 Postencephalitic parkinsonism """MeSH:D010301(Parkinson Disease, Postencephalitic)"", ""SnoMedCT:19972008(Postencephalitic parkinsonism)"", ""UMLS:C0030568(C0030568)"", ""MedDRA:10034013(Parkinsonism post encephalitic)"", ""NDFRT:N0000002328(Parkinson Disease, Postencephalitic [Disease/Finding])"", ""MONDO:MONDO:0001945(postencephalitic Parkinson disease)""" +PA165110266 Posterior Cortical Atrophy MedDRA:10078207(Posterior Cortical Atrophy), MONDO:MONDO:0018899(posterior cortical atrophy) +PA445391 Postoperative Complications """Complication, Postoperative"", ""Complications, Postoperative"", ""Postoperative Complication"", ""Postoperative complication NOS""" MeSH:D011183(Postoperative Complications), SnoMedCT:213302007(Postoperative complication NOS), SnoMedCT:385486001(Postoperative complication), UMLS:C0032787(C0032787), MedDRA:10058018(Postoperative complication), NDFRT:N0000002467(Postoperative Complications [Disease/Finding]) +PA446970 Postoperative Nausea and Vomiting """Emeses, Postoperative"", ""Emesis, Postoperative"", ""Nausea and Vomiting, Postoperative"", ""Nausea, Postoperative"", ""PONV"", ""PONV - Postoperative nausea and vomiting"", ""Postoperative Emeses"", ""Postoperative Emesis"", ""Postoperative Nausea"", ""Postoperative Vomiting"", ""Postoperative nausea and vomiting"", ""Vomiting, Postoperative""" MeSH:D020250(Postoperative Nausea and Vomiting), SnoMedCT:1488000(Postoperative nausea and vomiting), UMLS:C0520909(C0520909), NDFRT:N0000004075(Postoperative Nausea and Vomiting [Disease/Finding]) +PA447294 Postpartum depression Maternity blues, Postpartum depression, Puerperal depression, Third day blues, affective disorders """MeSH:D019052(Depression, Postpartum)"", ""SnoMedCT:279225001(Maternity blues)"", ""SnoMedCT:58703003(Postpartum depression)"", ""UMLS:C0221074(C0221074)"", ""MedDRA:10003968(Baby blues)"", ""NDFRT:N0000003890(Depression, Postpartum [Disease/Finding])"", ""MONDO:MONDO:0005929(postpartum depression)"", ""cpgxTags:pgkbTags:1452102240(Maternal Health)""" +PA165108823 Post-partum hemorrhage Postpartum hemorrhage MeSH:D006473(Postpartum Hemorrhage), SnoMedCT:200033009(Postpartum hemorrhage NOS), UMLS:C0032797(C0032797), MedDRA:10005128(Bleeding postpartum), NDFRT:N0000001484(Postpartum Hemorrhage [Disease/Finding]), cpgxTags:pgkbTags:1452102240(Maternal Health), HP:HP:0011891(Post-partum hemorrhage) +PA165108945 Post-traumatic epilepsy """MeSH:D004834(Epilepsy, Post-Traumatic)"", ""SnoMedCT:75023009(Post-traumatic epilepsy)"", ""UMLS:C0014557(C0014557)"", ""MedDRA:10036312(Post-traumatic epilepsy)"", ""NDFRT:N0000001133(Epilepsy, Post-Traumatic [Disease/Finding])"", ""MONDO:MONDO:0043264(post-traumatic epilepsy)""" +PA445397 Prader-Willi Syndrome """Labhart Willi Prader Fanconi Syndrome"", ""Labhart Willi Syndrome"", ""Labhart-Willi Syndrome"", ""Labhart-Willi-Prader-Fanconi Syndrome"", ""Prader Willi Syndrome"", ""Royer Syndrome"", ""Royer Syndromes"", ""Royer's Syndrome"", ""Royers Syndrome"", ""Syndrome, Labhart-Willi"", ""Syndrome, Labhart-Willi-Prader-Fanconi"", ""Syndrome, Prader-Willi"", ""Syndrome, Royer"", ""Syndrome, Royer's"", ""Syndromes, Royer""" MeSH:D011218(Prader-Willi Syndrome), SnoMedCT:89392001(Prader-Willi syndrome), UMLS:C0032897(C0032897), MedDRA:10036476(Prader-Willi syndrome), NDFRT:N0000002472(Prader-Willi Syndrome [Disease/Finding]), MONDO:MONDO:0008300(Prader-Willi syndrome) +PA445459 Precocious puberty Precocious Puberty, Precocious puberty, Sexual precocity """MeSH:D011629(Puberty, Precocious)"", ""SnoMedCT:123527003(Precocious sexual development)"", ""SnoMedCT:400179000(Precocious puberty)"", ""UMLS:C0034013(C0034013)"", ""MedDRA:10000359(Accelerated sexual maturation)"", ""NDFRT:N0000002535(Puberty, Precocious [Disease/Finding])"", ""MONDO:MONDO:0000088(precocious puberty)"", ""HP:HP:0000826(Precocious puberty)""" +PA446166 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma """Acute T-Cell Leukemia"", ""Acute T-Cell Leukemias"", ""Acute T-Lymphocytic Leukemia"", ""Acute T-Lymphocytic Leukemias"", ""Convoluted T-Cell Lymphoma"", ""Convoluted T-Cell Lymphomas"", ""Cortical T ALL"", ""Diffuse Lymphoblastic Lymphosarcoma"", ""Diffuse Lymphoblastic Lymphosarcomas"", ""Large Cell Lymphoblastic Lymphoma"", ""Large-Cell Lymphoblastic Lymphoma"", ""Large-Cell Lymphoblastic Lymphomas"", ""Large-Cell Lymphoma, Lymphoblastic"", ""Large-Cell Lymphomas, Lymphoblastic"", ""Leukemia, Acute T-Cell"", ""Leukemia, Acute T-Lymphocytic"", ""Leukemia, Lymphoblastic, Acute, T Cell"", ""Leukemia, Lymphoblastic, Acute, T-Cell"", ""Leukemia, Lymphocytic, Acute T Cell"", ""Leukemia, Lymphocytic, Acute, T-Cell"", ""Leukemia, T-Cell, Acute"", ""Leukemias, Acute T-Cell"", ""Leukemias, Acute T-Lymphocytic"", ""Lymphoblastic Large Cell Lymphoma"", ""Lymphoblastic Large-Cell Lymphoma"", ""Lymphoblastic Large-Cell Lymphomas"", ""Lymphoblastic Leukemia, Acute, T Cell"", ""Lymphoblastic Leukemia, Acute, T-Cell"", ""Lymphoblastic Lymphoma"", ""Lymphoblastic Lymphoma, Large-Cell"", ""Lymphoblastic Lymphomas"", ""Lymphoblastic Lymphomas, Large-Cell"", ""Lymphoblastic Lymphosarcoma, Diffuse"", ""Lymphoblastic Lymphosarcomas, Diffuse"", ""Lymphocytic Leukemia, T Cell, Acute"", ""Lymphocytic Leukemia, T-Cell, Acute"", ""Lymphoma, Convoluted T Cell"", ""Lymphoma, Convoluted T-Cell"", ""Lymphoma, Large-Cell Lymphoblastic"", ""Lymphoma, Lymphoblastic"", ""Lymphoma, Lymphoblastic Large-Cell"", ""Lymphoma, Lymphoblastic, Convoluted"", ""Lymphoma, Lymphoblastic, Diffuse"", ""Lymphoma, Lymphoblastic, Large-Cell"", ""Lymphoma, Lymphoblastic, Nonconvoluted"", ""Lymphomas, Convoluted T-Cell"", ""Lymphomas, Large-Cell Lymphoblastic"", ""Lymphomas, Lymphoblastic"", ""Lymphomas, Lymphoblastic Large-Cell"", ""Lymphosarcoma, Diffuse Lymphoblastic"", ""Lymphosarcoma, Lymphoblastic, Diffuse"", ""Lymphosarcomas, Diffuse Lymphoblastic"", ""Mature T ALL"", ""Pre-T ALL"", ""Precursor T-Cell Lymphoblastic Leukemia-Lymphoma"", ""Precursor T-cell lymphoblastic leukaemia"", ""Precursor T-cell lymphoblastic leukemia"", ""Pro-T ALL"", ""T Cell Leukemia, Acute"", ""T Lymphocytic Leukemia, Acute"", ""T-ALL"", ""T-Cell Leukemia, Acute"", ""T-Cell Leukemias, Acute"", ""T-Cell Lymphoma, Convoluted"", ""T-Cell Lymphomas, Convoluted"", ""T-Lymphocytic Leukemia, Acute"", ""T-Lymphocytic Leukemias, Acute"", ""T-cell acute lymphoblastic leukemia""" MeSH:D054218(Precursor T-Cell Lymphoblastic Leukemia-Lymphoma), SnoMedCT:128824003(Precursor T-cell lymphoblastic leukemia), SnoMedCT:277575008(T-cell acute lymphoblastic leukemia), UMLS:C1961099(C1961099), MedDRA:10066105(T-cell lymphoblastic leukaemia acute), NDFRT:N0000181266(Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [Disease/Finding]) +PA445398 Pre-Eclampsia """EPH - Edema, proteinuria and hypertension of pregnancy"", ""EPH - Oedema, proteinuria and hypertension of pregnancy"", ""PE - Pre-eclampsia"", ""PET - Pre-eclamptic toxaemia"", ""PET - Pre-eclamptic toxemia"", ""Pre Eclampsia"", ""Pre-Eclampsia"", ""Pre-eclampsia"", ""Pre-eclampsia NOS"", ""Pre-eclampsia, unspecified"", ""Pre-eclamptic toxaemia"", ""Pre-eclamptic toxemia"", ""Preeclampsia"", ""Toxaemia NOS"", ""Toxaemia of pregnancy"", ""Toxaemia of pregnancy, NOS"", ""Toxemia of pregnancy"", ""Toxemia of pregnancy, NOS"", ""preeclampsia""" MeSH:D011225(Pre-Eclampsia), SnoMedCT:15394000(Toxemia of pregnancy), SnoMedCT:237280005(Toxemia NOS), SnoMedCT:288201007(Pre-eclampsia NOS), SnoMedCT:398254007(Pre-eclampsia), UMLS:C0032914(C0032914), MedDRA:10036485(Pre-eclampsia), NDFRT:N0000002473(Pre-Eclampsia [Disease/Finding]), MONDO:MONDO:0005081(preeclampsia), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA166048714 Pregnancy NDFRT:N0000010195(Pregnancy), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA166048752 Pregnancy, Abdominal """NDFRT:N0000002485(Pregnancy, Abdominal)"", ""MONDO:MONDO:0043759(abdominal ectopic pregnancy)""" +PA445403 Pregnancy Complications """Complication related to pregnancy"", ""Complication, Pregnancy"", ""Complications, Pregnancy"", ""Pregnancy Complication"", ""Pregnancy complications NOS""" MeSH:D011248(Pregnancy Complications), SnoMedCT:198881004(Pregnancy complications), SnoMedCT:199152008(Pregnancy complication NOS), SnoMedCT:267311008(Pregnancy complications NOS), SnoMedCT:90821003(Complication related to pregnancy), UMLS:C0032962(C0032962), MedDRA:10061452(Complication of pregnancy), NDFRT:N0000002478(Pregnancy Complications [Disease/Finding]), MONDO:MONDO:0024575(pregnancy disorder), cpgxTags:pgkbTags:1452102240(Maternal Health) +PA445413 Preleukemia Preleukemias MeSH:D011289(Preleukemia), UMLS:C0026986(C0026986), MedDRA:10054577(Preleukemia), NDFRT:N0000002079(Myelodysplastic Syndromes [Disease/Finding]), MONDO:MONDO:0018881(myelodysplastic syndrome) +PA444704 Premature Birth """Birth, Premature"", ""Births, Premature"", ""Early onset of delivery"", ""Labor, Premature"", ""Premature Birth"", ""Premature Births"", ""Premature Labor"", ""Premature childbirth"", ""Premature delivery""" MeSH:D047928(Premature Birth), SnoMedCT:199059002(Early onset of delivery NOS), SnoMedCT:270496001(Early onset of delivery), SnoMedCT:282020008(Premature delivery), SnoMedCT:49550006(Premature pregnancy delivered), UMLS:C0151526(C0151526), MedDRA:10004953(Birth premature), NDFRT:N0000010969(Premature Birth [Disease/Finding]), cpgxTags:pgkbTags:1452102240(Maternal Health), HP:HP:0001622(Premature birth) +PA166323161 Premature ejaculation Ejaculatio Praecoxs MeSH:D061686(Premature Ejaculation), MedDRA:10036596(Premature ejaculation), NDFRT:N0000185609(Premature Ejaculation), MONDO:MONDO:0001780(premature ejaculation), HP:HP:0012876(Premature ejaculation) +PA166048826 Premenstrual Syndrome NDFRT:N0000002489(Premenstrual Syndrome) +PA165109123 Presenile gangrene MONDO:MONDO:0008889(thromboangiitis obliterans) +PA166252441 Primary central nervous system lymphoma MedDRA:10036685(Primary central nervous system lymphoma), MONDO:MONDO:0002571(primary central nervous system lymphoma), HP:HP:0030069(Primary central nervous system lymphoma) +PA162370424 Primary Failure of Tooth Eruption """MeSH:C565114(Failure of Tooth Eruption, Primary)"", ""MONDO:MONDO:0007434(primary failure of tooth eruption)""" +PA166248341 primary graft failure Primary graft failure (finding) SnoMedCT:24458006(Primary graft failure) +PA445015 Primary Myelofibrosis """Agnogenic Myeloid Metaplasia"", ""Agnogenic Myeloid Metaplasias"", ""Agnogenic myeloid metaplasia"", ""Bone Marrow Fibroses"", ""Bone Marrow Fibrosis"", ""Chronic idiopathic myelofibrosis"", ""Fibroses, Bone Marrow"", ""Fibrosis, Bone Marrow"", ""Megakaryocytic myelosclerosis"", ""Metaplasia"", ""Metaplasia, Agnogenic Myeloid"", ""Metaplasia, Myeloid"", ""Metaplasias, Agnogenic Myeloid"", ""Metaplasias, Myeloid"", ""Myelofibroses"", ""Myelofibrosis"", ""Myelofibrosis as a result of myeloproliferative disease"", ""Myelofibrosis with myeloid metaplasia"", ""Myeloid Metaplasia"", ""Myeloid Metaplasia, Agnogenic"", ""Myeloid Metaplasias"", ""Myeloid Metaplasias, Agnogenic"", ""Myeloscleroses"", ""Myelosclerosis"", ""Myelosclerosis with myeloid metaplasia"", ""Myeloses, Nonleukemic"", ""Myelosis, Nonleukemic"", ""Nonleukemic Myeloses"", ""Nonleukemic Myelosis"", ""Primary Myelofibrosis"", ""[M]Myelosclerosis with myeloid metaplasia""" MeSH:D055728(Primary Myelofibrosis), SnoMedCT:128843003(Myelosclerosis with myeloid metaplasia), SnoMedCT:307651005(Myelosclerosis with myeloid metaplasia), UMLS:C0001815(C0001815), NDFRT:N0000181011(Primary Myelofibrosis [Disease/Finding]), MONDO:MONDO:0009692(primary myelofibrosis) +PA446361 Primary ovarian failure """Gonadotropin Resistant Ovary Syndrome"", ""Gonadotropin-Resistant Ovary Syndrome"", ""Gonadotropin-Resistant Ovary Syndromes"", ""Ovarian Failures, Premature"", ""Ovary Syndrome, Gonadotropin-Resistant"", ""Ovary Syndrome, Resistant"", ""Ovary Syndromes, Gonadotropin-Resistant"", ""Ovary Syndromes, Resistant"", ""POF - Premature ovarian failure"", ""Premature Ovarian Failure"", ""Premature Ovarian Failures"", ""Premature ovarian failure"", ""Resistant Ovary Syndrome"", ""Resistant Ovary Syndromes"", ""premature menopause""" MeSH:D016649(Primary Ovarian Insufficiency), SnoMedCT:237788002(Premature ovarian failure), UMLS:C0085215(C0085215), MedDRA:10036602(Premature ovarian failure), NDFRT:N0000003452(Primary Ovarian Insufficiency [Disease/Finding]), MONDO:MONDO:0005387(primary ovarian failure) +PA165108893 Prinzmetal angina Prinzmental angina, Prinzmetal's angina, Variant angina pectoris MONDO:MONDO:0006021(Prinzmetal angina) +PA445418 Proctitis Proctitides, Proctitis NOS MeSH:D011349(Proctitis), SnoMedCT:197229007(Proctitis NOS), SnoMedCT:3951002(Proctitis), UMLS:C0033246(C0033246), MedDRA:10036774(Proctitis), NDFRT:N0000002493(Proctitis [Disease/Finding]), MONDO:MONDO:0005538(proctitis) +PA166048916 Proctocolitis NDFRT:N0000002494(Proctocolitis), MONDO:MONDO:0024278(proctocolitis) +PA445420 Progeria """Hutchinson Gilford Syndrome"", ""Hutchinson-Gilford Syndrome"", ""Premature senility syndrome"", ""Progeria syndrome"", ""Syndrome, Hutchinson-Gilford""" MeSH:D011371(Progeria), SnoMedCT:238870004(Hutchinson-Gilford syndrome), UMLS:C0033300(C0033300), MedDRA:10036794(Progeria), NDFRT:N0000002495(Progeria [Disease/Finding]), MONDO:MONDO:0008310(Hutchinson-Gilford progeria syndrome), MONDO:MONDO:0020732(progeria) +PA166123026 Progression-free survival MeSH:D000077982(Progression-Free Survival), UMLS:C0242792(C0242792) +PA446107 Prolactinoma """Adenoma, PRL-Secreting Pituitary"", ""Adenoma, Prolactin-Producing Pituitary"", ""Adenoma, Prolactin-Secreting Pituitary"", ""Adenoma, Prolactin-Secreting, Pituitary"", ""Adenomas, PRL-Secreting Pituitary"", ""Adenomas, Prolactin-Producing Pituitary"", ""Adenomas, Prolactin-Secreting Pituitary"", ""Macroprolactinoma"", ""Macroprolactinomas"", ""Microprolactinoma"", ""Microprolactinomas"", ""PRL Secreting Pituitary Adenoma"", ""PRL-Secreting Pituitary Adenoma"", ""PRL-Secreting Pituitary Adenomas"", ""Pituitary Adenoma, PRL-Secreting"", ""Pituitary Adenoma, Prolactin Secreting"", ""Pituitary Adenoma, Prolactin-Producing"", ""Pituitary Adenoma, Prolactin-Secreting"", ""Pituitary Adenomas, PRL-Secreting"", ""Pituitary Adenomas, Prolactin-Producing"", ""Pituitary Adenomas, Prolactin-Secreting"", ""Prolactin Producing Pituitary Adenoma"", ""Prolactin-Producing Pituitary Adenoma"", ""Prolactin-Producing Pituitary Adenomas"", ""Prolactin-Secreting Pituitary Adenoma"", ""Prolactin-Secreting Pituitary Adenomas"", ""Prolactin-secreting pituitary adenoma"", ""Prolactinomas""" MeSH:D015175(Prolactinoma), SnoMedCT:134209002(Prolactinoma), SnoMedCT:34337008(Prolactinoma), UMLS:C0033375(C0033375), MedDRA:10036832(Prolactinoma), NDFRT:N0000003197(Prolactinoma [Disease/Finding]), MONDO:MONDO:0010911(prolactin-producing pituitary gland adenoma) +PA166123369 Prolonged QTc interval QT prolongation, QT prolonged, electrocardiogram qt prolonged, prolonged QT MedDRA:10014387(Electrocardiogram QT prolonged), HP:HP:0005184(Prolonged QTc interval) +PA162370426 Propionic acidemia """Acidemia, Propionic"", ""Hyperglycinemia with ketosis and leukopenia"", ""Hyperglycinemia with ketosis and leukopenia, types I and II"", ""Ketotic hyperglycinemia"", ""Propionic Acids"", ""Propionic acidaemia, type I AND/OR type II"", ""Propionic acidemia, NOS""" SnoMedCT:69080001(Propionic acidemia), UMLS:C0268579(C0268579), NDFRT:N0000181104(Propionic Acidemia [Disease/Finding]), MONDO:MONDO:0011628(propionic acidemia), HP:HP:0003571(Propionic acidemia) +PA445424 Prostatic Hyperplasia """Adenoma, Prostatic"", ""Adenomas, Prostatic"", ""Benign Prostatic Hypertrophy"", ""Hyperplasia of prostate"", ""Hyperplasia, Prostatic"", ""Hypertrophy, Benign Prostatic"", ""Hypertrophy, Prostatic"", ""Prostatic Adenoma"", ""Prostatic Adenomas"", ""Prostatic Hypertrophy"", ""Prostatic Hypertrophy, Benign"", ""Prostatic hyperplasia NOS"", ""Prostatic hyperplasia unspecified"", ""Prostatism""" MeSH:D011470(Prostatic Hyperplasia), SnoMedCT:197958000(Prostatic hyperplasia unspecified), SnoMedCT:197961004(Prostatic hyperplasia NOS), SnoMedCT:433234005(Hyperplasia of prostate), UMLS:C1739363(C1739363), MedDRA:10020728(Hyperplasia of prostate), NDFRT:N0000002499(Prostatic Hyperplasia [Disease/Finding]), MONDO:MONDO:0002450(prostatic adenoma), MONDO:MONDO:0010811(benign prostatic hyperplasia) +PA445425 Prostatic Neoplasms """Cancer of Prostate"", ""Cancer of the Prostate"", ""Cancer, Prostate"", ""Cancer, Prostatic"", ""Cancers, Prostate"", ""Cancers, Prostatic"", ""NGP - New growth of prostate"", ""Neoplasm of prostate"", ""Neoplasm, Prostate"", ""Neoplasm, Prostatic"", ""Neoplasms, Prostate"", ""Neoplasms, Prostatic"", ""Prostate Cancer"", ""Prostate Cancers"", ""Prostate Neoplasm"", ""Prostate Neoplasms"", ""Prostatic Cancer"", ""Prostatic Cancers"", ""Prostatic Neoplasm"", ""Tumour of prostate""" MeSH:D011471(Prostatic Neoplasms), SnoMedCT:126906006(Neoplasm of prostate), UMLS:C0033578(C0033578), MedDRA:10029002(Neoplasm of the prostate), NDFRT:N0000002500(Prostatic Neoplasms [Disease/Finding]), MONDO:MONDO:0008315(prostate cancer) +PA166245601 protein adduct +PA445428 Protein Deficiency """Deficiencies, Protein"", ""Deficiency, Protein"", ""Protein Deficiencies""" MeSH:D011488(Protein Deficiency), UMLS:C0033626(Protein Deficiency [Disease/Finding]), NDFRT:N0000002503(Protein Deficiency [Disease/Finding]) +PA445431 Proteinuria """Abnormal presence of protein in urine"", ""Proteinuria, NOS"", ""Proteinurias"", ""[D]Proteinuria""" MeSH:D011507(Proteinuria), SnoMedCT:207310001([D]Proteinuria), SnoMedCT:29738008(Proteinuria), UMLS:C0033687(C0033687), MedDRA:10037020(Protein urine positive), NDFRT:N0000002506(Proteinuria [Disease/Finding]), MONDO:MONDO:0003634(proteinuria), HP:HP:0000093(Proteinuria) +PA445437 Pruritus Itch, Itch of skin, Itching, Itching of skin, Itchy, Pruritis, Pruritus - disorder, Pruritus NOS, Pruritus of skin MeSH:D011537(Pruritus), SnoMedCT:267804004(Pruritus NOS), SnoMedCT:279333002(Pruritus of skin), SnoMedCT:418290006(Itching), SnoMedCT:418363000(Itching of skin), SnoMedCT:424492005(Itch of skin), UMLS:C0033774(C0033774), MedDRA:10023082(Itch), NDFRT:N0000002512(Pruritus [Disease/Finding]), HP:HP:0000989(Pruritus) +PA445440 Pseudoarthrosis """Fibrous nonunion"", ""Nearthrosis"", ""Nearthrosis - disorder"", ""Neoarthrosis"", ""Pseudarthroses"", ""Pseudoarthroses"", ""Pseudoarthrosis"", ""Pseudoarthrosis, NOS""" MeSH:D011542(Pseudarthrosis), SnoMedCT:31511007(Pseudoarthrosis), SnoMedCT:410818009(Pseudoarthrosis), UMLS:C0033785(C0033785), MedDRA:10048617(Pseudarthrosis), NDFRT:N0000002515(Pseudarthrosis [Disease/Finding]), HP:HP:0005864(Pseudoarthrosis) +PA166048731 Pseudomonas Infections NDFRT:N0000002519(Pseudomonas Infections) +PA445450 Pseudoxanthoma Elasticum """Gronblad Strandberg Syndrome"", ""Gronblad-Strandberg Syndrome"", ""PXE - Pseudoxanthoma elasticum"", ""Syndrome, Gronblad-Strandberg"", ""inherited pseudoxanthoma elasticum""" MeSH:D011561(Pseudoxanthoma Elasticum), SnoMedCT:252246005(Pseudoxanthoma elasticum), UMLS:C0033847(C0033847), MedDRA:10037150(Pseudoxanthoma elasticum), NDFRT:N0000002525(Pseudoxanthoma Elasticum [Disease/Finding]), MONDO:MONDO:0009925(autosomal recessive inherited pseudoxanthoma elasticum), MONDO:MONDO:0100091(inherited pseudoxanthoma elasticum) +PA445451 Psoriasis Palmoplantaris Pustulosis, Psoriases, Pustular Psoriasis of Palms and Soles, Pustulosis Palmaris et Plantaris, Pustulosis of Palms and Soles MeSH:D011565(Psoriasis), SnoMedCT:200961000(Psoriasis unspecified), SnoMedCT:200978009(Psoriasis NOS), SnoMedCT:9014002(Psoriasis), UMLS:C0033860(C0033860), MedDRA:10037153(Psoriasis), NDFRT:N0000002526(Psoriasis [Disease/Finding]), MONDO:MONDO:0005083(psoriasis), MONDO:MONDO:0015597(pustulosis palmaris et plantaris) +PA445452 Psychomotor Agitation """Agitated"", ""Agitated behavior"", ""Agitated behaviour"", ""Agitation"", ""Agitation, Psychomotor"", ""Akathisia"", ""Excessive overactivity"", ""Excessive overactivity, NOS"", ""Excitement, Psychomotor"", ""Feeling agitated"", ""Hyperactivity, Psychomotor"", ""Increased purposeless goalless activity, NOS"", ""Motor restlessness"", ""Psychomotor Excitement"", ""Psychomotor Hyperactivity"", ""Psychomotor Restlessness"", ""Psychomotor agitation"", ""Psychomotor agitation, NOS"", ""Restless"", ""Restlessness"", ""Restlessness behavior"", ""Restlessness, Psychomotor""" MeSH:D011595(Psychomotor Agitation), SnoMedCT:162221009(Restlessness), SnoMedCT:24199005(Feeling agitated), SnoMedCT:47295007(Psychomotor agitation), UMLS:C0085631(C0085631), MedDRA:10001495(Agitated), NDFRT:N0000002527(Psychomotor Agitation [Disease/Finding]), HP:HP:0000713(Agitation) +PA445454 Psychophysiologic Disorders """Psychophysiologic Disorder"", ""Psychophysiologic disorder, NOS"", ""Psychophysiological Disorder"", ""Psychophysiological Disorders"", ""Psychosomatic Disorder"", ""Psychosomatic Disorders"", ""Psychosomatic disorder"", ""somatoform disorder""" MeSH:D011602(Psychophysiologic Disorders), SnoMedCT:191985004(Psychosomatic disorder NOS), SnoMedCT:37057007(Psychophysiologic disorder), UMLS:C0033931(C0033931), MedDRA:10049587(Psychosomatic disease), NDFRT:N0000002529(Psychophysiologic Disorders [Disease/Finding]) +PA447215 Psychotic Disorder Atypical psychosis, Psychotic disorder, psychosis MeSH:D011618(Psychotic Disorders), SnoMedCT:69322001(Psychotic disorder), UMLS:C0033975(C0033975), MedDRA:10059419(Atypical psychosis), NDFRT:N0000002532(Psychotic Disorders [Disease/Finding]), MONDO:MONDO:0005485(psychotic disorder) +PA445458 Puberty, Delayed Delay in sexual development AND/OR puberty, Delayed Puberty, Delayed puberty, Delayed sexual development """MeSH:D011628(Puberty, Delayed)"", ""SnoMedCT:123526007(Delay in sexual development AND/OR puberty)"", ""SnoMedCT:400003000(Delayed puberty)"", ""UMLS:C0034012(C0034012)"", ""MedDRA:10012205(Delayed puberty)"", ""NDFRT:N0000002534(Puberty, Delayed [Disease/Finding])"", ""HP:HP:0000823(Delayed puberty)""" +PA445464 Pulmonary Edema """Edema, Pulmonary"", ""Edemas, Pulmonary"", ""Lung, Wet"", ""Lungs, Wet"", ""Pulmonary Edemas"", ""Pulmonary edema"", ""Pulmonary edema NOS"", ""Pulmonary edema, NOS"", ""Pulmonary oedema"", ""Pulmonary oedema NOS"", ""Wet Lung"", ""Wet Lungs""" MeSH:D011654(Pulmonary Edema), SnoMedCT:19242006(Pulmonary edema), SnoMedCT:196119001(Pulmonary edema NOS), UMLS:C0034063(C0034063), MedDRA:10014233(Edema lung), NDFRT:N0000002540(Pulmonary Edema [Disease/Finding]), MONDO:MONDO:0006932(pulmonary edema), HP:HP:0100598(Pulmonary edema) +PA445465 Pulmonary Embolism """Embolism, Pulmonary"", ""Embolisms, Pulmonary"", ""Infarction, Pulmonary"", ""Infarctions, Pulmonary"", ""Pulmonary Embolisms"", ""Pulmonary Infarction"", ""Pulmonary Infarctions"", ""Pulmonary Thromboembolism"", ""Pulmonary Thromboembolisms"", ""Thromboembolism, Pulmonary"", ""Thromboembolisms, Pulmonary""" MeSH:D011655(Pulmonary Embolism), SnoMedCT:59282003(Pulmonary embolism), UMLS:C0034065(C0034065), MedDRA:10050071(Embolism lung), NDFRT:N0000002541(Pulmonary Embolism [Disease/Finding]), MONDO:MONDO:0005279(pulmonary embolism), HP:HP:0002204(Pulmonary embolism) +PA445466 Pulmonary Emphysema """Emphysema of lung, NOS"", ""Emphysema, Pulmonary"", ""Emphysemas, Pulmonary"", ""Pulmonary Emphysemas"", ""Pulmonary emphysema""" MONDO:MONDO:0004849(pulmonary emphysema) +PA445468 Pulmonary Fibrosis """Alveolitides, Fibrosing"", ""Alveolitis, Fibrosing"", ""Fibroses, Pulmonary"", ""Fibrosing Alveolitides"", ""Fibrosing Alveolitis"", ""Fibrosis of lung"", ""Fibrosis of lung, NOS"", ""Fibrosis, Pulmonary"", ""Hamman Rich Syndrome"", ""Hamman-Rich Syndrome"", ""Pulmonary Fibroses"", ""Syndrome, Hamman-Rich""" MeSH:D011658(Pulmonary Fibrosis), SnoMedCT:51615001(Fibrosis of lung), UMLS:C0034069(C0034069), MedDRA:10016649(Fibrosis lung), NDFRT:N0000002544(Pulmonary Fibrosis [Disease/Finding]), MONDO:MONDO:0002771(pulmonary fibrosis), HP:HP:0002206(Pulmonary fibrosis) +PA444555 Pulmonary Hypertension """Ayerza Syndrome"", ""Ayerza's Syndrome"", ""Ayerzas Syndrome"", ""Pulmonary Hypertension"", ""Pulmonary hypertension"", ""Pulmonary hypertension, NOS"", ""Syndrome, Ayerza's""" """MeSH:D006976(Hypertension, Pulmonary)"", ""SnoMedCT:70995007(Pulmonary hypertension)"", ""UMLS:C0020542(C0020542)"", ""MedDRA:10020787(Hypertension pulmonary)"", ""NDFRT:N0000001619(Hypertension, Pulmonary [Disease/Finding])"", ""MONDO:MONDO:0005149(pulmonary hypertension)""" +PA445471 Pulmonary Valve Insufficiency """Incompetence, Pulmonary"", ""Incompetence, Pulmonary Valve"", ""Insufficiency, Pulmonary"", ""Insufficiency, Pulmonary Valve"", ""PVR - Pulmonary regurgitation"", ""Pulmonary Incompetence"", ""Pulmonary Insufficiency"", ""Pulmonary Regurgitation"", ""Pulmonary Valve Incompetence"", ""Pulmonary Valve Regurgitation"", ""Pulmonary regurgitation, non-rheumatic"", ""Pulmonary valve incompetence, NOS"", ""Pulmonary valve regurgitation"", ""Pulmonic valve incompetence"", ""Pulmonic valve insufficiency, NOS"", ""Pulmonic valve regurgitation"", ""Regurgitation, Pulmonary"", ""Regurgitation, Pulmonary Valve"", ""Valve Incompetence, Pulmonary"", ""Valve Insufficiency, Pulmonary"", ""Valve Regurgitation, Pulmonary""" MONDO:MONDO:0001927(pulmonary valve insufficiency) +PA445472 Pulmonary Valve Stenosis """PS - Pulmonary valve stenosis"", ""Pulmonary Stenoses"", ""Pulmonary Stenosis"", ""Pulmonary Valve Stenoses"", ""Pulmonary stenosis"", ""Pulmonic stenosis"", ""Stenoses, Pulmonary"", ""Stenoses, Pulmonary Valve"", ""Stenosis, Pulmonary"", ""Stenosis, Pulmonary Valve""" MeSH:D011666(Pulmonary Valve Stenosis), SnoMedCT:56786000(Pulmonic valve stenosis), UMLS:C0034089(C0034089), MedDRA:10037450(Pulmonary valve stenosis), NDFRT:N0000002548(Pulmonary Valve Stenosis [Disease/Finding]), MONDO:MONDO:0006936(pulmonary valve stenosis), MONDO:MONDO:0017865(congenital pulmonary valve stenosis), MONDO:MONDO:0020395(valvar pulmonary stenosis) +PA445477 Purpura """Disorder characterised by purpura"", ""Disorder characterized by purpura"", ""Peliosis"", ""Peliosis, NOS"", ""Petechiae"", ""Purpura, NOS"", ""Purpuras""" MeSH:D011693(Purpura), SnoMedCT:12393003(Purpura), SnoMedCT:387778001(Purpuric disorder), SnoMedCT:423902002(Purpura), UMLS:C0034150(C0034150), MedDRA:10034228(Peliosis), NDFRT:N0000002553(Purpura [Disease/Finding]), MONDO:MONDO:0002610(purpura), HP:HP:0000979(Purpura) +PA166048753 Purpura, Thrombocytopenic """NDFRT:N0000002556(Purpura, Thrombocytopenic)"", ""MONDO:MONDO:0043768(thrombocytopenic purpura)""" +PA166048851 Purpura, Thrombocytopenic, Idiopathic """NDFRT:N0000003436(Purpura, Thrombocytopenic, Idiopathic)"", ""MONDO:MONDO:0008558(autoimmune thrombocytopenic purpura)"", ""HP:HP:0001973(Autoimmune thrombocytopenia)""" +PA165108229 Purulent conjunctivitis Mucopurulent conjunctivitis MONDO:MONDO:0006668(bacterial conjunctivitis) +PA445483 Pyelonephritis Pyelonephritides, Pyonephroses, Pyonephrosis, Unspecified pyelonephritis NOS MeSH:D011704(Pyelonephritis), SnoMedCT:197779009(Pyelonephritis unspecified), SnoMedCT:197784003(Unspecified pyelonephritis NOS), SnoMedCT:45816000(Pyelonephritis), UMLS:C0034186(C0034186), MedDRA:10037596(Pyelonephritis), NDFRT:N0000002559(Pyelonephritis [Disease/Finding]), MONDO:MONDO:0006939(pyelonephritis), HP:HP:0012330(Pyelonephritis) +PA445485 Pyloric Stenosis """Pyloric Stenoses"", ""Pyloric stenosis"", ""Stenoses, Pyloric"", ""Stenosis, Pyloric""" MeSH:D011707(Pyloric Stenosis), SnoMedCT:367403001(Pyloric stenosis), UMLS:C0034194(C0034194), MedDRA:10037621(Pyloric stenosis), NDFRT:N0000002561(Pyloric Stenosis [Disease/Finding]), MONDO:MONDO:0001561(pyloric stenosis), HP:HP:0002021(Pyloric stenosis) +PA445486 Pyoderma Pyoderma NOS, Pyodermas, Pyodermia, Septic dermatitis, Suppurative dermatitis MeSH:D011711(Pyoderma), SnoMedCT:200719000(Pyoderma NOS), SnoMedCT:70759006(Pyoderma), UMLS:C0034212(C0034212), MedDRA:10012486(Dermatitis pyogenic), NDFRT:N0000002562(Pyoderma [Disease/Finding]), MONDO:MONDO:0002922(pyoderma), HP:HP:0000999(Pyoderma) +PA446500 Pyoderma Gangrenosum Pyoderma gangrenosum MONDO:MONDO:0018824(pyoderma gangrenosum), HP:HP:0025452(Pyoderma gangrenosum) +PA166048805 Rabies NDFRT:N0000002567(Rabies), MONDO:MONDO:0019173(rabies) +PA445491 Radiation Injuries """Effects of radiation"", ""Effects of radiation, NOS"", ""Injuries, Radiation"", ""Injury due to exposure to ionizing radiation"", ""Injury, Radiation"", ""Radiation Injury"", ""Radiation Sickness"", ""Radiation Sicknesses"", ""Radiation Syndrome"", ""Radiation Syndromes"", ""Radiation injury"", ""Sickness, Radiation"", ""Sicknesses, Radiation"", ""Syndrome, Radiation"", ""Syndromes, Radiation""" MeSH:D011832(Radiation Injuries), SnoMedCT:24803000(Radiation injury), SnoMedCT:81018009(Radiation injury), UMLS:C0034530(C0034530), MedDRA:10022124(Injury radiation), NDFRT:N0000002568(Radiation Injuries [Disease/Finding]), MONDO:MONDO:0043458(radiation injury) +PA166131628 rapid virological response (rvr) +PA445499 Raynaud Disease """CREST - Calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia"", ""CREST - Calcinosis, Raynaud's phenomenon, oesophageal dysfunction, sclerodactyly, telangiectasia"", ""CREST - Calcinosis, Raynaud's phenomenon, sclerodactyly, esophageal involvement, telangiectasia syndrome"", ""CREST - Calcinosis, Raynaud's phenomenon, sclerodactyly, oesophageal involvement, telangiectasia syndrome"", ""CREST Syndrome"", ""CREST syndrome"", ""Calcinosis cutis, Raynaud's, esophageal dysfunction, sclerodactyly and telangiectasia"", ""Calcinosis cutis, Raynaud's, oesophageal dysfunction, sclerodactyly AND telangiectasia"", ""Calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome"", ""Calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome"", ""Disease, Raynaud"", ""Disease, Raynaud's"", ""Raynaud Disease"", ""Raynaud's Disease"", ""Raynaud's disease"", ""Raynauds Disease""" MeSH:D011928(Raynaud Disease), MeSH:D017675(CREST Syndrome), SnoMedCT:195295006(Raynaud's disease), SnoMedCT:195297003(Raynaud's syndrome NOS), SnoMedCT:31848007(CREST syndrome), UMLS:C0034734(C0034734), UMLS:C0206138(C0206138), MedDRA:10037910(Raynaud's disease), NDFRT:N0000002576(Raynaud Disease [Disease/Finding]), MONDO:MONDO:0008364(Raynaud disease), MONDO:MONDO:0019563(CREST syndrome) +PA166328621 Recent blood transfusion Blood Transfusions MeSH:D001803(Blood Transfusion), HP:HP:4000129(Recent blood transfusion) +PA445503 Rectal Neoplasms """Cancer of Rectum"", ""Cancer of the Rectum"", ""Cancer, Rectal"", ""Cancer, Rectum"", ""Cancers, Rectal"", ""Cancers, Rectum"", ""Neoplasm, Rectal"", ""Neoplasm, Rectum"", ""Neoplasms, Rectal"", ""Neoplasms, Rectum"", ""Rectal Cancer"", ""Rectal Cancers"", ""Rectal Neoplasm"", ""Rectum Cancer"", ""Rectum Cancers"", ""Rectum Neoplasm"", ""Rectum Neoplasms"", ""Tumor of rectum"", ""Tumour of rectum""" MeSH:D012004(Rectal Neoplasms), SnoMedCT:126847008(Neoplasm of rectum), UMLS:C0034885(C0034885), MedDRA:10062099(Rectal neoplasm), NDFRT:N0000002580(Rectal Neoplasms [Disease/Finding]), MONDO:MONDO:0002165(rectal neoplasm) +PA445506 Recurrence Recrudescence, Recrudescences, Recurrences, Recurrent, Relapse, Relapses MeSH:D012008(Recurrence), SnoMedCT:246455001(Recurrence), SnoMedCT:255227004(Recurrent), UMLS:C0034897(C0034897), NDFRT:N0000002583(Recurrence [Disease/Finding]) +PA166127658 Recurrence free survival Recurrence free survival, Surviving free of recurrence of neoplastic disease (finding), disease-free survival SnoMedCT:445150007(Surviving free of recurrence of neoplastic disease) +PA443228 Recurrent pregnancy loss """Abortion, Recurrent"", ""Abortions, Habitual"", ""Abortions, Recurrent"", ""Habitual Abortion"", ""Habitual Abortions"", ""Habitual aborter"", ""Habitual abortion"", ""Miscarriage, Recurrent"", ""Miscarriages, Recurrent"", ""Recurrent Abortion"", ""Recurrent Abortions"", ""Recurrent Miscarriage"", ""Recurrent Miscarriages"", ""Recurrent aborter"", ""Recurrent abortion"", ""Recurrent miscarriage""" """MeSH:D000026(Abortion, Habitual)"", ""SnoMedCT:102878001(Recurrent abortion)"", ""SnoMedCT:199086002(Habitual aborter - unspecified)"", ""SnoMedCT:199090000(Habitual aborter NOS)"", ""UMLS:C0000809(C0000809)"", ""MedDRA:10062935(Habitual abortion)"", ""NDFRT:N0000000269(Abortion, Habitual [Disease/Finding])"", ""MONDO:MONDO:0006774(habitual spontaneous abortion)"", ""cpgxTags:pgkbTags:1452102240(Maternal Health)""" +PA166048858 Red-Cell Aplasia, Pure """NDFRT:N0000002584(Red-Cell Aplasia, Pure)"", ""MONDO:MONDO:0001705(pure red-cell aplasia)""" +PA166316981 reflex, pupillary Pupillary Reflex MeSH:D012025(Reflex, Pupillary) +PA162372590 Renal agenesis """Renal Agenesis"", ""Renal agenesis, unspecified NOS""" SnoMedCT:204942005(Renal agenesis), UMLS:C0542519(C0542519), MedDRA:10038354(Renal agenesis), MONDO:MONDO:0018470(renal agenesis), HP:HP:0000104(Renal agenesis) +PA445514 Renal Artery Obstruction """Obstruction, Renal Artery"", ""Obstructions, Renal Artery"", ""Renal Artery Obstructions"", ""Renal Artery Stenoses"", ""Renal Artery Stenosis"", ""Stenoses, Renal Artery"", ""Stenosis, Renal Artery""" MONDO:MONDO:0006945(renal artery obstruction) +PA150481190 Renal carnitine transport defect Carnitine transporter deficiency, Carnitine uptake defect, Primary carnitine deficiency, Systemic carnitine deficiency, systemic carnitine deficiency SnoMedCT:21764004(Renal carnitine transport defect), UMLS:C0342788(C0342788), MONDO:MONDO:0008919(systemic primary carnitine deficiency disease) +PA443624 Renal Cell Carcinoma """Adenocarcinoma, Renal Cell"", ""Adenocarcinomas, Renal Cell"", ""Carcinoma, Hypernephroid"", ""Carcinoma, Nephroid"", ""Carcinomas, Hypernephroid"", ""Carcinomas, Nephroid"", ""Carcinomas, Renal Cell"", ""Grawitz Tumor"", ""Grawitz tumour"", ""Hypernephroid Carcinoma"", ""Hypernephroid Carcinomas"", ""Hypernephroma"", ""Hypernephromas"", ""Nephroid Carcinoma"", ""Nephroid Carcinomas"", ""RCC"", ""Renal Cell Adenocarcinoma"", ""Renal Cell Adenocarcinomas"", ""Renal Cell Carcinoma"", ""Renal Cell Carcinomas"", ""Tumor, Grawitz""" """MeSH:D002292(Carcinoma, Renal Cell)"", ""SnoMedCT:41607009(Renal cell carcinoma)"", ""UMLS:C0007134(C0007134)"", ""MedDRA:10001174(Adenocarcinoma of kidney)"", ""NDFRT:N0000000678(Carcinoma, Renal Cell [Disease/Finding])"", ""MONDO:MONDO:0005086(renal cell carcinoma)"", ""HP:HP:0005584(Renal cell carcinoma)""" +PA166123006 Renal interstitial fibrosis Interstitial fibrosis, Interstitial fibrosis (morphologic abnormality) SnoMedCT:125565008(Interstitial fibrosis), HP:HP:0032948(Renal interstitial fibrosis) +PA445515 Renal Osteodystrophy """Osteodystrophies, Renal"", ""Osteodystrophy, Renal"", ""ROD - Renal osteodystrophy"", ""Renal Osteodystrophies"", ""Renal Rickets"", ""Renal bone disease"", ""Renal osteodystrophy"", ""Renal osteodystrophy NOS"", ""Renal rickets"", ""Rickets, Renal""" MeSH:D012080(Chronic Kidney Disease-Mineral and Bone Disorder), SnoMedCT:16726004(Renal osteodystrophy), SnoMedCT:197668007(Renal osteodystrophy NOS), UMLS:C0035086(C0035086), MedDRA:10038489(Renal osteodystrophy), NDFRT:N0000002592(Renal Osteodystrophy [Disease/Finding]), MONDO:MONDO:0006946(renal osteodystrophy) +PA166180841 Renal transplant failure MedDRA:10074495(Renal transplant failure) +PA446144 Reperfusion Injury """Damage, Reperfusion"", ""Damages, Reperfusion"", ""Injuries, Ischemia-Reperfusion"", ""Injuries, Reperfusion"", ""Injury, Ischemia Reperfusion"", ""Injury, Ischemia-Reperfusion"", ""Injury, Reperfusion"", ""Ischemia Reperfusion Injury"", ""Ischemia-Reperfusion Injuries"", ""Ischemia-Reperfusion Injury"", ""Reperfusion Damage"", ""Reperfusion Damages"", ""Reperfusion Injuries""" MeSH:D015427(Reperfusion Injury), UMLS:C0035126(Reperfusion injury), MedDRA:10063837(Reperfusion injury), NDFRT:N0000003234(Reperfusion Injury [Disease/Finding]), MONDO:MONDO:0005203(ischemia reperfusion injury) +PA446714 Residual Neoplasm """Cancer, Residual"", ""Cancers, Residual"", ""Disease, Minimal Residual"", ""Disease, Residual Minimal"", ""Diseases, Minimal Residual"", ""Diseases, Residual Minimal"", ""Minimal Disease, Residual"", ""Minimal Diseases, Residual"", ""Minimal Residual Disease"", ""Minimal Residual Diseases"", ""Neoplasms, Residual"", ""Residual Cancer"", ""Residual Cancers"", ""Residual Disease, Minimal"", ""Residual Diseases, Minimal"", ""Residual Minimal Disease"", ""Residual Minimal Diseases"", ""Residual Neoplasm"", ""Residual Neoplasms"", ""Residual Tumor"", ""Residual Tumors"", ""Tumor, Residual"", ""Tumors, Residual""" """MeSH:D018365(Neoplasm, Residual)"", ""UMLS:C0242596(Neoplasm, Residual [Disease/Finding])"", ""NDFRT:N0000003805(Neoplasm, Residual [Disease/Finding])""" +PA166329361 resistant hypertension drug resistant hypertension MedDRA:10081349(resistant hypertension), MONDO:MONDO:0100078(resistant hypertension) +PA445520 Respiratory Distress Syndrome, Adult """ARDS"", ""ARDS, Human"", ""ARDSs, Human"", ""Acute Lung Injuries"", ""Acute Lung Injury"", ""Acute respiratory distress syndrome"", ""Adult respiratory distress syndrome"", ""Atelectases, Congestive"", ""Atelectasis, Congestive"", ""Congestive Atelectases"", ""Congestive Atelectasis"", ""Human ARDS"", ""Human ARDSs"", ""Injuries, Acute Lung"", ""Injury, Acute Lung"", ""Lung Injuries, Acute"", ""Lung Injury, Acute"", ""Lung, Shock"", ""Lungs, Shock"", ""Pulmonary insufficiency following shock"", ""Shock Lung"", ""Shock Lungs"", ""Vietnam lung""" """MeSH:D012128(Respiratory Distress Syndrome)"", ""SnoMedCT:67782005(Adult respiratory distress syndrome)"", ""SnoMedCT:95437004(Non-cardiogenic pulmonary edema)"", ""UMLS:C0035222(C0035222)"", ""MedDRA:10000036(A.R.D.S.)"", ""NDFRT:N0000002597(Respiratory Distress Syndrome, Adult [Disease/Finding])"", ""MONDO:MONDO:0100130(adult acute respiratory distress syndrome)""" +PA165108938 Respiratory distress syndrome in the newborn IRDS of newborn, Idiopathic respiratory distress syndrome, Neonatal respiratory distress syndrome """MeSH:D012127(Respiratory Distress Syndrome, Newborn)"", ""SnoMedCT:46775006(Respiratory distress syndrome in the newborn)"", ""UMLS:C0035220(C0035220)"", ""MedDRA:10013494(Distress respiratory syndrome newborn)"", ""NDFRT:N0000002596(Respiratory Distress Syndrome, Newborn [Disease/Finding])"", ""MONDO:MONDO:0700081(newborn respiratory distress syndrome)""" +PA166393301 respiratory failure requiring assisted ventilation Respiratory distress necessitating mechanical ventilation, Respiratory distress requiring endotracheal intubation, Respiratory distress requiring mechanical ventilation HP:HP:0004887(Respiratory failure requiring assisted ventilation) +PA445522 Respiratory Insufficiency Respiratory Failure, Respiratory insufficiency, Respiratory insufficiency [D] MeSH:D012131(Respiratory Insufficiency), SnoMedCT:207056002([D]Respiratory insufficiency), SnoMedCT:409623005(Respiratory insufficiency), UMLS:C0035229(C0035229), MedDRA:10038701(Respiratory insufficiency), NDFRT:N0000002599(Respiratory Insufficiency [Disease/Finding]), MONDO:MONDO:0021113(respiratory failure), HP:HP:0002093(Respiratory insufficiency) +PA445525 Respiratory Tract Diseases """Disease, Respiratory Tract"", ""Diseases, Respiratory Tract"", ""Respiratory Tract Disease"", ""Tract Disease, Respiratory"", ""Tract Diseases, Respiratory""" MeSH:D012140(Respiratory Tract Diseases), UMLS:C0035242(Respiratory Tract Diseases [Disease/Finding]), NDFRT:N0000002602(Respiratory Tract Diseases [Disease/Finding]), MONDO:MONDO:0005087(respiratory system disorder) +PA445526 Respiratory Tract Infections """Infection, Respiratory"", ""Infection, Respiratory Tract"", ""Infection, Upper Respiratory"", ""Infections, Respiratory"", ""Infections, Respiratory Tract"", ""Infections, Upper Respiratory"", ""RTI - Respiratory tract infection"", ""Respiratory Infection"", ""Respiratory Infection, Upper"", ""Respiratory Infections"", ""Respiratory Infections, Upper"", ""Respiratory Tract Infection"", ""Upper Respiratory Infection"", ""Upper Respiratory Infections""" MeSH:D012141(Respiratory Tract Infections), SnoMedCT:275498002(Respiratory tract infection), UMLS:C0035243(C0035243), MedDRA:10021863(Infection respiratory), NDFRT:N0000002603(Respiratory Tract Infections [Disease/Finding]), MONDO:MONDO:0024355(respiratory tract infectious disorder) +PA445528 Restless Legs Syndrome """Ekbom Syndrome"", ""Ekbom's Syndrome"", ""Ekboms Syndrome"", ""Restless Legs"", ""Restless legs"", ""Syndrome, Ekbom"", ""Syndrome, Ekbom's""" MeSH:D012148(Restless Legs Syndrome), SnoMedCT:32914008(Restless legs), UMLS:C0035258(C0035258), MedDRA:10024183(Legs restless), NDFRT:N0000002605(Restless Legs Syndrome [Disease/Finding]), MONDO:MONDO:0005391(restless legs syndrome) +PA445530 Retinal Degeneration """Degeneration of retina"", ""Degeneration, Retinal"", ""Degenerations, Retinal"", ""Retinal Degenerations"", ""Retinal degeneration"", ""Retinal degeneration, NOS""" MeSH:D012162(Retinal Degeneration), SnoMedCT:95695004(Degeneration of retina), UMLS:C0035304(C0035304), MedDRA:10012159(Degeneration retinal), NDFRT:N0000002607(Retinal Degeneration [Disease/Finding]), MONDO:MONDO:0004580(retinal degeneration), HP:HP:0000546(Retinal degeneration) +PA445531 Retinal Detachment """Detachment, Retinal"", ""Detachments, Retinal"", ""RD - Retinal detachment"", ""Retinal Detachments"", ""Retinal Pigment Epithelial Detachment"", ""Retinal detachment"", ""Retinal detachment NOS"", ""Retinal detachment, NOS"", ""Sensory retinal detachment"", ""Separation of retinal layers""" MeSH:D012163(Retinal Detachment), SnoMedCT:193347002(Retinal detachment NOS), SnoMedCT:42059000(Retinal detachment), UMLS:C0035305(C0035305), MedDRA:10064854(Amotio retinae), NDFRT:N0000002608(Retinal Detachment [Disease/Finding]), MONDO:MONDO:0008375(retinal detachment), HP:HP:0000541(Retinal detachment) +PA445532 Retinal Diseases """Disease, Retinal"", ""Diseases, Retinal"", ""Retinal Disease"", ""Retinopathy""" MeSH:D012164(Retinal Diseases), SnoMedCT:193430004(Retinal disorder NOS), SnoMedCT:29555009(Retinal disorder), SnoMedCT:399625000(Retinopathy), UMLS:C0035309(C0035309), MedDRA:10013265(Disorder retinal), NDFRT:N0000002609(Retinal Diseases [Disease/Finding]), MONDO:MONDO:0005283(retinal disorder) +PA445533 Retinal Hemorrhage """Hemorrhage, Retinal"", ""Intraretinal hemorrhage"", ""Retinal Hemorrhages"", ""Retinal haemorrhage NOS"", ""Retinal haemorrhages"", ""Retinal hemorrhage"", ""Retinal hemorrhage, NOS"", ""Retinal hemorrhages""" MeSH:D012166(Retinal Hemorrhage), SnoMedCT:193422000(Retinal hemorrhage NOS), SnoMedCT:28998008(Retinal hemorrhage), UMLS:C0035317(C0035317), MedDRA:10005122(Bleeding intraretinal), NDFRT:N0000002610(Retinal Hemorrhage [Disease/Finding]), HP:HP:0000573(Retinal hemorrhage) +PA153627687 Retinal Vasculopathy with Cerebral Leukodystrophy """MeSH:C566007(Vasculopathy, Retinal, With Cerebral Leukodystrophy)"", ""MONDO:MONDO:0008641(retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations)"", ""MONDO:MONDO:0030026(retinal dystrophy with leukodystrophy)""" +PA165108137 Retinitis NOS MeSH:D012173(Retinitis), SnoMedCT:193450000(Retinitis NOS), UMLS:C0035333(C0035333), MedDRA:10038910(Retinitis), NDFRT:N0000002613(Retinitis [Disease/Finding]), MONDO:MONDO:0000958(neuroretinitis), MONDO:MONDO:0002708(retinitis) +PA445537 Retinitis Pigmentosa """Degeneration, Tapetoretinal"", ""Degenerations, Tapetoretinal"", ""Dystrophies, Rod Cone"", ""Dystrophies, Rod-Cone"", ""Dystrophy, Rod Cone"", ""Dystrophy, Rod-Cone"", ""Pigmentary Retinopathies"", ""Pigmentary Retinopathy"", ""Retinitis pigmentosa"", ""Retinopathies, Pigmentary"", ""Retinopathy, Pigmentary"", ""Rod Cone Dystrophies"", ""Rod Cone Dystrophy"", ""Rod-Cone Dystrophies"", ""Rod-Cone Dystrophy"", ""Tapetoretinal Degeneration"", ""Tapetoretinal Degenerations""" MeSH:D012174(Retinitis Pigmentosa), SnoMedCT:28835009(Retinitis pigmentosa), UMLS:C0035334(C0035334), MedDRA:10054856(Pigmentary maculopathy), NDFRT:N0000002614(Retinitis Pigmentosa [Disease/Finding]), MONDO:MONDO:0019200(retinitis pigmentosa) +PA445538 Retinoblastoma """Familial Retinoblastoma"", ""Familial Retinoblastomas"", ""Glioblastoma, Retinal"", ""Glioblastomas, Retinal"", ""Glioma, Retinal"", ""Gliomas, Retinal"", ""Hereditary Retinoblastoma"", ""Hereditary Retinoblastomas"", ""Neuroblastoma, Retinal"", ""Neuroblastomas, Retinal"", ""Retinal Glioblastoma"", ""Retinal Glioblastomas"", ""Retinal Glioma"", ""Retinal Gliomas"", ""Retinal Neuroblastoma"", ""Retinal Neuroblastomas"", ""Retinoblastoma (M-95103)"", ""Retinoblastoma, Familial"", ""Retinoblastoma, Hereditary"", ""Retinoblastoma, Sporadic"", ""Retinoblastomas"", ""Retinoblastomas, Familial"", ""Retinoblastomas, Hereditary"", ""Retinoblastomas, Sporadic"", ""Sporadic Retinoblastoma"", ""Sporadic Retinoblastomas""" MeSH:D012175(Retinoblastoma), SnoMedCT:19906005(Retinoblastoma), SnoMedCT:370967009(Retinoblastoma), UMLS:C0035335(C0035335), MedDRA:10038916(Retinoblastoma), NDFRT:N0000002615(Retinoblastoma [Disease/Finding]), MONDO:MONDO:0008380(retinoblastoma), HP:HP:0009919(Retinoblastoma) +PA445539 Retinopathy of Prematurity """Fibroplasia, Retrolental"", ""Fibroplasias, Retrolental"", ""Prematurity Retinopathies"", ""Prematurity Retinopathy"", ""RLF - Retrolental fibroplasia"", ""ROP"", ""ROP - Retinopathy of prematurity"", ""Retinopathy of prematurity"", ""Retrolental Fibroplasia"", ""Retrolental Fibroplasias"", ""Retrolental fibroplasia"", ""Terry's syndrome""" MeSH:D012178(Retinopathy of Prematurity), SnoMedCT:415297005(Retinopathy of prematurity), UMLS:C0035344(C0035344), MedDRA:10038933(Retinopathy of prematurity), NDFRT:N0000002616(Retinopathy of Prematurity [Disease/Finding]), MONDO:MONDO:0006952(retinopathy of prematurity), HP:HP:0500049(Retinopathy of prematurity) +PA446191 Rett Syndrome """Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome"", ""Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome"", ""Cerebroatrophic Hyperammonemia"", ""Cerebroatrophic Hyperammonemias"", ""Cerebroatrophic hyperammonemia"", ""Hyperammonemia, Cerebroatrophic"", ""Hyperammonemias, Cerebroatrophic"", ""Rett Disorder"", ""Rett's Disorder"", ""Rett's Syndrome"", ""Rett's disorder"", ""Retts Syndrome"", ""Syndrome, Rett"", ""Syndrome, Rett's""" MeSH:D015518(Rett Syndrome), SnoMedCT:68618008(Rett's disorder), UMLS:C0035372(C0035372), MedDRA:10039000(Rett's disorder), NDFRT:N0000003280(Rett Syndrome [Disease/Finding]), MONDO:MONDO:0010726(Rett syndrome) +PA445547 Reye Syndrome """Adult Reye Syndrome"", ""Adult Reye's Syndrome"", ""Reye Johnson Syndrome"", ""Reye Like Syndrome"", ""Reye Syndrome, Adult"", ""Reye's Like Syndrome"", ""Reye's Syndrome"", ""Reye's Syndrome, Adult"", ""Reye's-Like Syndrome"", ""Reye-Johnson Syndrome"", ""Reye-Like Syndrome""" MeSH:D012202(Reye Syndrome), SnoMedCT:74351001(Reye's syndrome), UMLS:C0035400(C0035400), MedDRA:10039012(Reye's syndrome), NDFRT:N0000002624(Reye Syndrome [Disease/Finding]), MONDO:MONDO:0005942(Reye syndrome) +PA445549 Rhabdomyolysis Rhabdomyolyses MeSH:D012206(Rhabdomyolysis), SnoMedCT:240131006(Rhabdomyolysis), SnoMedCT:89010004(Rhabdomyolysis), UMLS:C0035410(C0035410), MedDRA:10039020(Rhabdomyolysis), NDFRT:N0000002626(Rhabdomyolysis [Disease/Finding]), MONDO:MONDO:0005290(obsolete rhabdomyolysis), HP:HP:0003201(Rhabdomyolysis) +PA445551 Rhabdomyosarcoma """Rhabdomyosarcoma, no subtype"", ""Rhabdomyosarcomas"", ""Rhabdosarcoma""" """MeSH:D012208(Rhabdomyosarcoma)"", ""SnoMedCT:302847003(Rhabdomyosarcoma)"", ""SnoMedCT:30924005(Rhabdomyosarcoma, no subtype)"", ""UMLS:C0035412(C0035412)"", ""MedDRA:10039022(Rhabdomyosarcoma)"", ""NDFRT:N0000002628(Rhabdomyosarcoma [Disease/Finding])"", ""MONDO:MONDO:0005212(rhabdomyosarcoma)"", ""HP:HP:0002859(Rhabdomyosarcoma)""" +PA446615 Rhabdomyosarcoma, Alveolar """Alveolar Rhabdomyosarcoma"", ""Alveolar Rhabdomyosarcomas"", ""Alveolar rhabdomyosarcoma"", ""Rhabdomyosarcomas, Alveolar""" """MeSH:D018232(Rhabdomyosarcoma, Alveolar)"", ""SnoMedCT:404053004(Alveolar rhabdomyosarcoma)"", ""SnoMedCT:63449009(Alveolar rhabdomyosarcoma)"", ""UMLS:C0206655(C0206655)"", ""MedDRA:10065867(Alveolar rhabdomyosarcoma)"", ""NDFRT:N0000003706(Rhabdomyosarcoma, Alveolar [Disease/Finding])"", ""MONDO:MONDO:0009994(alveolar rhabdomyosarcoma)"", ""HP:HP:0006779(Alveolar rhabdomyosarcoma)""" +PA445555 Rheumatic Diseases """Disease, Rheumatic"", ""Diseases, Rheumatic"", ""Enthesopathies"", ""Enthesopathy"", ""Locomotor pain disorder"", ""Musculoskeletal pain disorder"", ""Rheumatic Disease"", ""Rheumatism"", ""Rheumatism unspecified""" MeSH:D012216(Rheumatic Diseases), SnoMedCT:203100003(Rheumatism unspecified), SnoMedCT:396332003(Rheumatism), UMLS:C0035435(C0035435), MedDRA:10039068(Rheumatics), NDFRT:N0000002632(Rheumatic Diseases [Disease/Finding]), MONDO:MONDO:0002183(enthesopathy), MONDO:MONDO:0005554(rheumatic disorder) +PA445552 Rheumatic Fever """Acute Articular Rheumatism"", ""Acute Articular Rheumatisms"", ""Acute Rheumatic Arthritides"", ""Acute Rheumatic Arthritis"", ""Arthritides, Acute Rheumatic"", ""Arthritis, Acute Rheumatic"", ""Arthritis, Rheumatic, Acute"", ""Articular Rheumatism, Acute"", ""Articular Rheumatisms, Acute"", ""Fever, Rheumatic"", ""Fevers, Rheumatic"", ""Polyarthritis Rheumatica"", ""Polyarthritis Rheumaticas"", ""RhF - Rheumatic fever"", ""Rheumatic Arthritides, Acute"", ""Rheumatic Arthritis, Acute"", ""Rheumatic Fevers"", ""Rheumatic fever"", ""Rheumatism, Acute Articular"", ""Rheumatism, Articular, Acute"", ""Rheumatisms, Acute Articular""" MeSH:D012213(Rheumatic Fever), SnoMedCT:58718002(Rheumatic fever), SnoMedCT:81077008(Acute rheumatic arthritis), UMLS:C0035436(C0035436), MedDRA:10001060(Acute rheumatism), NDFRT:N0000002629(Rheumatic Fever [Disease/Finding]), MONDO:MONDO:0017767(rheumatic fever) +PA445553 Rheumatic Heart Disease """Bouillaud Disease"", ""Bouillaud's Disease"", ""Bouillauds Disease"", ""Disease, Bouillaud"", ""Disease, Bouillaud's"", ""Disease, Rheumatic Heart"", ""Diseases, Rheumatic Heart"", ""Heart Disease, Rheumatic"", ""Heart Diseases, Rheumatic"", ""Rheumatic Heart Diseases"", ""Rheumatic carditis"", ""Rheumatic carditis, NOS"", ""Rheumatic fever with heart involvement"", ""Rheumatic heart disease"", ""Rheumatic heart disease NOS"", ""Rheumatic heart disease unspecified"", ""Rheumatic heart disease, NOS""" MeSH:D012214(Rheumatic Heart Disease), SnoMedCT:194708008(Rheumatic fever with heart involvement), SnoMedCT:194752000(Rheumatic heart disease unspecified), SnoMedCT:23685000(Rheumatic heart disease), SnoMedCT:266286002(Rheumatic heart disease NOS), UMLS:C0035439(C0035439), MedDRA:10039032(RHD), NDFRT:N0000002630(Rheumatic Heart Disease [Disease/Finding]), MONDO:MONDO:0006955(rheumatic heart disease) +PA443434 Rheumatoid arthritis """Arthritis, Rheumatoid"", ""Atrophic arthritis"", ""Chronic rheumatic arthritis"", ""Proliferative arthritis"", ""RA - Rheumatoid arthritis"", ""RhA - Rheumatoid arthritis"", ""Rheumatic gout"", ""Rheumatoid Arthritis"", ""Rheumatoid arthritis"", ""Rheumatoid disease""" """MeSH:D001172(Arthritis, Rheumatoid)"", ""SnoMedCT:287010008(Rheumatoid arthritis NOS)"", ""SnoMedCT:69896004(Rheumatoid arthritis)"", ""UMLS:C0003873(C0003873)"", ""MedDRA:10003268(Arthritis rheumatoid)"", ""NDFRT:N0000000482(Arthritis, Rheumatoid [Disease/Finding])"", ""MONDO:MONDO:0008383(rheumatoid arthritis)"", ""HP:HP:0001370(Rheumatoid arthritis)""" +PA445556 Rheumatoid Nodule """Chronic rheumatoid nodular fibrosis"", ""Nodule, Rheumatoid"", ""Nodules, Rheumatoid"", ""Rheumatoid Nodules"", ""Subcutaneous rheumatoid nodule""" MeSH:D012218(Rheumatoid Nodule), SnoMedCT:33719002(Subcutaneous rheumatoid nodule), SnoMedCT:50782009(Rheumatoid nodule), UMLS:C0035450(C0035450), MedDRA:10048694(Rheumatoid nodule), NDFRT:N0000002633(Rheumatoid Nodule [Disease/Finding]), MONDO:MONDO:0008384(rheumatoid nodulosis), HP:HP:6000418(Rheumatoid nodule) +PA445557 Rhinitis """Irritation of nose"", ""Rhinitides"", ""Rhinitis, NOS""" MeSH:D012220(Rhinitis), SnoMedCT:70076002(Rhinitis), UMLS:C0035455(C0035455), MedDRA:10039083(Rhinitis), NDFRT:N0000002634(Rhinitis [Disease/Finding]), MONDO:MONDO:0003014(rhinitis), HP:HP:0012384(Rhinitis) +PA445558 Rhinitis, Allergic, Perennial Rhinitis, Allergic, Nonseasonal MONDO:MONDO:0024332(perennial allergic rhinitis) +PA445566 Rickets """Rachitides"", ""Rachitis"", ""Rickets, NOS""" MeSH:D012279(Rickets), SnoMedCT:41345002(Rickets), UMLS:C0035579(C0035579), MedDRA:10039119(Rickets), NDFRT:N0000002643(Rickets [Disease/Finding]), MONDO:MONDO:0005520(rickets), HP:HP:0002748(Rickets) +PA142189041 Roberts-SC phocomelia syndrome Hypomelia hypotrichosis facial hemangioma syndrome, Hypomelia-hypotrichosis-facial haemangioma syndrome, Hypomelia-hypotrichosis-facial hemangioma syndrome, Pseudothalidomide syndrome, Robert's syndrome, Roberts Syndrome SnoMedCT:48718006(Roberts-SC phocomelia syndrome), UMLS:C0392475(C0392475), MONDO:MONDO:0100253(Roberts-SC phocomelia syndrome) +PA447184 Romano-Ward Syndrome """Long QT Syndrome 1"", ""Romano Ward Syndrome"", ""Romano-Ward syndrome"", ""Syndrome, Romano-Ward"", ""Syndrome, Ward-Romano"", ""Ward Romano Syndrome"", ""Ward-Romano Syndrome""" MeSH:D029597(Romano-Ward Syndrome), SnoMedCT:20852007(Romano-Ward syndrome), UMLS:C0035828(C0035828), MedDRA:10039211(Romano Ward syndrome), NDFRT:N0000011055(Romano-Ward Syndrome [Disease/Finding]), MONDO:MONDO:0100316(long QT syndrome 1) +PA165108609 Rosacea MeSH:D012393(Rosacea), SnoMedCT:200935004(Rosacea NOS), UMLS:C0035854(C0035854), MedDRA:10000514(Acne rosacea), NDFRT:N0000002653(Rosacea [Disease/Finding]), MONDO:MONDO:0006604(rosacea) +PA166361181 rotor syndrome """HBLRR"", ""Rotor syndrome"", ""Rotor-type hyperbilirubinemia"", ""hyperbilirubinemia, ROTOR type"", ""hyperbilirubinemia, rotor type, digenic""" MONDO:MONDO:0009379(Rotor syndrome) +PA445579 Rubella """German Measles"", ""German measles"", ""Measles, German"", ""Rubella without mention of complication"", ""Rubella, NOS"", ""Rubellas""" MeSH:D012409(Rubella), SnoMedCT:36653000(Rubella), UMLS:C0035920(C0035920), MedDRA:10018206(German measles), NDFRT:N0000002655(Rubella [Disease/Finding]), MONDO:MONDO:0004656(rubella) +PA445589 Salmonella Infections """Infection, Salmonella"", ""Infections, Salmonella"", ""Salmonella Infection"", ""Salmonella infection"", ""Salmonella infection NOS"", ""Salmonelloses"", ""Salmonellosis"", ""Salmonellosis, NOS (except human typhoid & paratyphoid)"", ""Salmonellosis, non-typhoid""" MeSH:D012480(Salmonella Infections), SnoMedCT:186102000(Salmonella infection NOS), SnoMedCT:302231008(Salmonella infection), SnoMedCT:90974009(Salmonellosis), UMLS:C0036117(C0036117), MedDRA:10039430(Salmonella), NDFRT:N0000002666(Salmonella Infections [Disease/Finding]), MONDO:MONDO:0000827(salmonellosis) +PA166048808 Salmonella Infections, Animal """NDFRT:N0000002667(Salmonella Infections, Animal)"", ""MONDO:MONDO:0024982(salmonella infections, animal)""" +PA445593 Sarcoidosis """Benign lymphogranulomatosis of Schaumann"", ""Besnier Boeck Disease"", ""Besnier-Boeck Disease"", ""Besnier-Boeck-Schaumann syndrome"", ""Boeck Sarcoid"", ""Boeck's Sarcoid"", ""Boeck's sarcoid"", ""Boeck's sarcoidosis"", ""Boecks Sarcoid"", ""Boecks sarcoidosis"", ""Disease, Besnier-Boeck"", ""Disease, Schaumann"", ""Disease, Schaumann's"", ""Lupus pernio of Besnier"", ""Miliary lupoid of Boeck"", ""Sarcoid, Boeck's"", ""Sarcoidoses"", ""Sarcoidosis, NOS"", ""Schaumann Disease"", ""Schaumann's Disease"", ""Schaumanns Disease"", ""Uveoparotid fever""" MeSH:D012507(Sarcoidosis), SnoMedCT:31541009(Sarcoidosis), UMLS:C0036202(C0036202), MedDRA:10054078(Besnier-Boeck-Schaumann's disease), NDFRT:N0000002670(Sarcoidosis [Disease/Finding]), MONDO:MONDO:0019338(sarcoidosis) +PA445594 Sarcoma """Epithelioid Sarcoma"", ""Epithelioid Sarcomas"", ""Malignant mesenchymal tumor"", ""Malignant mesenchymal tumour"", ""Malignant neoplasm of soft tissue"", ""Mesenchymal tumor, malignant"", ""Mesenchymal tumour, malignant"", ""Sarcoma, Epithelioid"", ""Sarcoma, Soft Tissue"", ""Sarcoma, Spindle Cell"", ""Sarcomas"", ""Sarcomas, Epithelioid"", ""Sarcomas, Soft Tissue"", ""Sarcomas, Spindle Cell"", ""Soft Tissue Sarcoma"", ""Soft Tissue Sarcomas"", ""Soft tissue sarcoma"", ""Soft tissue tumor, malignant"", ""Soft tissue tumour, malignant"", ""Spindle Cell Sarcoma"", ""Spindle Cell Sarcomas""" MeSH:D012509(Sarcoma), SnoMedCT:2424003(Sarcoma), SnoMedCT:269469005(Malignant neoplasm of soft tissue), SnoMedCT:424413001(Sarcoma), SnoMedCT:424952003(Sarcoma of soft tissue), UMLS:C1261473(C1261473), MedDRA:10061271(Malignant soft tissue neoplasm), NDFRT:N0000002671(Sarcoma [Disease/Finding]), MONDO:MONDO:0005089(sarcoma), HP:HP:0100242(Sarcoma) +PA445597 Sarcoma, Ewing's """Ewing Sarcoma"", ""Ewing Tumor"", ""Ewing's Sarcoma"", ""Ewing's Tumor"", ""Ewing's tumour"", ""Ewings Tumor"", ""Sarcoma, Ewing"", ""Sarcoma, Ewings"", ""Tumor, Ewing's""" """MeSH:D012512(Sarcoma, Ewing)"", ""SnoMedCT:76909002(Ewing's sarcoma)"", ""UMLS:C0553580(C0553580)"", ""MedDRA:10015560(Ewing's sarcoma)"", ""NDFRT:N0000002674(Sarcoma, Ewing's [Disease/Finding])"", ""MONDO:MONDO:0012817(Ewing sarcoma)""" +PA445599 Sarcoma, Kaposi """KS - Kaposi's sarcoma"", ""Kaposi Sarcoma"", ""Kaposi's Sarcoma"", ""Kaposi's sarcoma"", ""Kaposi's sarcoma (clinical)"", ""Kaposis Sarcoma"", ""Multiple haemorrhagic sarcoma"", ""Sarcoma, Kaposi's""" """MeSH:D012514(Sarcoma, Kaposi)"", ""SnoMedCT:109385007(Kaposi's sarcoma (clinical))"", ""SnoMedCT:49937004(Kaposi's sarcoma, morphology)"", ""UMLS:C0036220(C0036220)"", ""MedDRA:10023284(Kaposi's sarcoma)"", ""NDFRT:N0000002676(Sarcoma, Kaposi [Disease/Finding])"", ""MONDO:MONDO:0005055(Kaposi's sarcoma)""" +PA445792 Sarcoma, Synovial """Malignant synovioma"", ""Sarcomas, Synovial"", ""Synovial Sarcoma"", ""Synovial Sarcomas"", ""Synovioma"", ""Synovioma, NOS"", ""Synovioma, malignant"", ""Synoviomas""" """MeSH:D013584(Sarcoma, Synovial)"", ""SnoMedCT:302851001(Synovial sarcoma)"", ""SnoMedCT:63211008(Synovial sarcoma)"", ""UMLS:C0039101(C0039101)"", ""MedDRA:10042863(Synovial sarcoma)"", ""NDFRT:N0000002878(Sarcoma, Synovial [Disease/Finding])"", ""MONDO:MONDO:0010434(synovial sarcoma)"", ""HP:HP:0012570(Synovial sarcoma)""" +PA445604 Scabies """Infestation by Sarcoptes scabiei var hominis"", ""Mange, Sarcoptic"", ""Sarcoptic Mange"", ""Sarcoptic itch""" MeSH:D012532(Scabies), SnoMedCT:128869009(Infestation by Sarcoptes scabiei var hominis), UMLS:C0036262(C0036262), MedDRA:10039502(Sarcoptes scabeii infestation), NDFRT:N0000002681(Scabies [Disease/Finding]), MONDO:MONDO:0004525(scabies) +PA445608 Schistosomiasis """Bilharzia"", ""Bilharziases"", ""Bilharziasis"", ""Blood fluke infection"", ""Blood flukes, NOS"", ""Disease due to Schistosomatidae"", ""Haemic distomiasis"", ""Hemic distomiasis"", ""Infection by Schistosoma"", ""Infection by Schistosoma, NOS"", ""Schistosomiases"", ""Schistosomiasis - bilharziasis"", ""Schistosomiasis NOS"", ""Schistosomosis""" MeSH:D012552(Schistosomiasis), SnoMedCT:10087007(Infection by Schistosoma), SnoMedCT:105661001(Disease due to Schistosomatidae), SnoMedCT:187122005(Schistosomiasis NOS), UMLS:C0036323(C0036323), MedDRA:10039603(Schistosomiasis), NDFRT:N0000002685(Schistosomiasis [Disease/Finding]), MONDO:MONDO:0015254(schistosomiasis) +PA166152644 Schizencephaly Schizencephaly (disorder) SnoMedCT:253159001(Schizencephaly), MONDO:MONDO:0010011(schizencephaly), HP:HP:0010636(Schizencephaly) +PA166123368 Schizoaffective disorder Schizoaffective disorder (disorder) SnoMedCT:68890003(Schizoaffective disorder), MONDO:MONDO:0005487(schizoaffective disorder) +PA447216 Schizophrenia Schizophrenia NOS, Schizophrenic disorders MeSH:D012559(Schizophrenia), SnoMedCT:191526005(Schizophrenic disorders), SnoMedCT:191528006(Unspecified schizophrenia), SnoMedCT:191579000(Schizophrenia NOS), SnoMedCT:58214004(Schizophrenia), UMLS:C0036341(C0036341), MedDRA:10012297(Dementia praecox), NDFRT:N0000002690(Schizophrenia [Disease/Finding]), MONDO:MONDO:0005090(schizophrenia), HP:HP:0100753(Schizophrenia) +PA161660866 Schmid Metaphyseal Chondrodysplasia MONDO:MONDO:0007983(Schmid metaphyseal chondrodysplasia) +PA445619 Scoliosis Scolioses MeSH:D012600(Scoliosis), SnoMedCT:298382003(Scoliosis deformity of spine), UMLS:C0036439(C0036439), MedDRA:10039722(Scoliosis), NDFRT:N0000002703(Scoliosis [Disease/Finding]), MONDO:MONDO:0005392(scoliosis), HP:HP:0002650(Scoliosis) +PA445620 Scotoma """Altitudinal Scotoma"", ""Altitudinal Scotomas"", ""Arcuate Scotoma"", ""Arcuate Scotomas"", ""Bjerrum Scotoma"", ""Bjerrum Scotomas"", ""Blind spot"", ""Central Scotoma"", ""Central Scotomas"", ""Centrocecal Scotoma"", ""Centrocecal Scotomas"", ""Paracecal Scotoma"", ""Paracecal Scotomas"", ""Paracentral Scotoma"", ""Paracentral Scotomas"", ""Peripheral Scotoma"", ""Peripheral Scotomas"", ""Ring Scotoma"", ""Ring Scotomas"", ""Scintillating Scotoma"", ""Scintillating Scotomas"", ""Scotoma NOS"", ""Scotoma, Altitudinal"", ""Scotoma, Arcuate"", ""Scotoma, Bjerrum"", ""Scotoma, Central"", ""Scotoma, Centrocecal"", ""Scotoma, NOS"", ""Scotoma, Paracecal"", ""Scotoma, Paracentral"", ""Scotoma, Peripheral"", ""Scotoma, Ring"", ""Scotoma, Scintillating"", ""Scotoma, Sector"", ""Scotomas"", ""Scotomas, Altitudinal"", ""Scotomas, Arcuate"", ""Scotomas, Bjerrum"", ""Scotomas, Central"", ""Scotomas, Centrocecal"", ""Scotomas, Paracecal"", ""Scotomas, Paracentral"", ""Scotomas, Peripheral"", ""Scotomas, Ring"", ""Scotomas, Scintillating"", ""Scotomas, Sector"", ""Sector Scotoma"", ""Sector Scotomas"", ""VFD - Visual field defect"", ""Visual field defect"", ""Visual field defects NOS"", ""Visual field scotoma""" MeSH:D012607(Scotoma), SnoMedCT:12184005(Visual field defect), SnoMedCT:193666005(Unspecified visual field defect), SnoMedCT:193677004(Scotoma NOS), SnoMedCT:193682006(Visual field defects NOS), SnoMedCT:23388006(Visual field scotoma), UMLS:C0036454(C0036454), MedDRA:10012121(Defect visual field (NOS)), NDFRT:N0000002704(Scotoma [Disease/Finding]), MONDO:MONDO:0004758(scotoma), HP:HP:0000575(Scotoma) +PA165108583 Seasonal affective disorder SAD - Seasonal affective disorder MeSH:D016574(Seasonal Affective Disorder), SnoMedCT:247803002(Seasonal affective disorder), UMLS:C0085159(C0085159), MedDRA:10039775(Seasonal affective disorder), NDFRT:N0000003438(Seasonal Affective Disorder [Disease/Finding]), MONDO:MONDO:0000694(seasonal affective disorder) +PA447279 Seasonal allergic rhinitis """Allergic rhinitis due to pollens"", ""Allergy to pollen"", ""Fever, Hay"", ""Hay Fever"", ""Hay fever"", ""Hayfever"", ""Pollinosis"", ""Rhinitis, Allergic, Seasonal"", ""allergic rhinitis""" """MeSH:D006255(Rhinitis, Allergic, Seasonal)"", ""SnoMedCT:21719001(Allergic rhinitis due to pollen)"", ""SnoMedCT:300910009(Allergy to pollen)"", ""SnoMedCT:367498001(Seasonal allergic rhinitis)"", ""UMLS:C0018621(C0018621)"", ""MedDRA:10001726(Allergic rhinitis due to pollen)"", ""NDFRT:N0000171691(Rhinitis, Allergic, Seasonal [Disease/Finding])"", ""MONDO:MONDO:0005324(seasonal allergic rhinitis)""" +PA166129521 sedation MedDRA:10039897(Sedation) +PA445629 Seizures """Auditory Seizure"", ""Auditory Seizures"", ""Clonic Seizure"", ""Clonic Seizures"", ""Convulsion"", ""Convulsion, NOS"", ""Convulsion, Non Epileptic"", ""Convulsion, Non-Epileptic"", ""Convulsions"", ""Convulsions, Non-Epileptic"", ""Convulsive Seizure"", ""Convulsive Seizures"", ""Fit - convulsion"", ""Focal Seizure"", ""Focal Seizures"", ""Generalized Seizure"", ""Generalized Seizures"", ""Gustatory Seizure"", ""Gustatory Seizures"", ""Jacksonian Seizure"", ""Motor Seizure"", ""Motor Seizures"", ""Non-Epileptic Convulsion"", ""Non-Epileptic Convulsions"", ""Olfactory Seizure"", ""Olfactory Seizures"", ""Seizure"", ""Seizure, Auditory"", ""Seizure, Clonic"", ""Seizure, Convulsive"", ""Seizure, Focal"", ""Seizure, Generalized"", ""Seizure, Gustatory"", ""Seizure, Jacksonian"", ""Seizure, Motor"", ""Seizure, Olfactory"", ""Seizure, Sensory"", ""Seizure, Somatosensory"", ""Seizure, Tonic"", ""Seizure, Tonic-Clonic"", ""Seizure, Vertiginous"", ""Seizure, Vestibular"", ""Seizure, Visual"", ""Seizures"", ""Seizures, Auditory"", ""Seizures, Clonic"", ""Seizures, Convulsive"", ""Seizures, Focal"", ""Seizures, Generalized"", ""Seizures, Gustatory"", ""Seizures, Motor"", ""Seizures, Olfactory"", ""Seizures, Sensory"", ""Seizures, Somatosensory"", ""Seizures, Tonic"", ""Seizures, Tonic Clonic"", ""Seizures, Tonic-Clonic"", ""Seizures, Vertiginous"", ""Seizures, Vestibular"", ""Seizures, Visual"", ""Sensory Seizure"", ""Sensory Seizures"", ""Somatosensory Seizure"", ""Somatosensory Seizures"", ""Tonic Seizure"", ""Tonic Seizures"", ""Tonic-Clonic Seizure"", ""Tonic-Clonic Seizures"", ""Vertiginous Seizure"", ""Vertiginous Seizures"", ""Vestibular Seizure"", ""Vestibular Seizures"", ""Visual Seizure"", ""Visual Seizures""" MeSH:D012640(Seizures), SnoMedCT:91175000(Seizure), UMLS:C0036572(C0036572), MedDRA:10039906(Seizure), NDFRT:N0000002713(Seizures [Disease/Finding]), MONDO:MONDO:0001386(visual epilepsy) +PA443788 Seizures, Febrile """Convulsion, Febrile"", ""Convulsion, Fever"", ""Convulsion, Pyrexial"", ""Convulsions, Febrile"", ""Convulsions, Fever"", ""Convulsions, Pyrexial"", ""Febrile Convulsion"", ""Febrile Convulsion Seizure"", ""Febrile Convulsion Seizures"", ""Febrile Convulsions"", ""Febrile Fit"", ""Febrile Fits"", ""Febrile Seizure"", ""Febrile Seizures"", ""Febrile convulsion"", ""Fever Convulsion"", ""Fever Convulsions"", ""Fever Seizure"", ""Fever Seizures"", ""Fever seizure"", ""Fit, Febrile"", ""Fits, Febrile"", ""Pyrexial Convulsion"", ""Pyrexial Convulsions"", ""Pyrexial Seizure"", ""Pyrexial Seizures"", ""Pyrexial convulsion"", ""Seizure, Febrile"", ""Seizure, Febrile Convulsion"", ""Seizure, Febrile, Complex"", ""Seizure, Febrile, Simple"", ""Seizure, Fever"", ""Seizure, Pyrexial"", ""Seizures, Febrile Convulsion"", ""Seizures, Fever"", ""Seizures, Pyrexial"", ""[D]Convulsions, febrile"", ""[D]Pyrexial convulsion""" """MeSH:D003294(Seizures, Febrile)"", ""SnoMedCT:206733006([D]Convulsions, febrile)"", ""SnoMedCT:41497008(Febrile convulsion)"", ""UMLS:C0009952(C0009952)"", ""MedDRA:10010908(Convulsion febrile)"", ""NDFRT:N0000000848(Seizures, Febrile [Disease/Finding])"", ""HP:HP:0002373(Febrile seizure (within the age range of 3 months to 6 years))""" +PA446771 Sepsis """Sepsis, NOS"", ""Septicaemia, NOS"", ""Septicemia, NOS"", ""Systemic infection, NOS""" MeSH:D018805(Sepsis), SnoMedCT:91302008(Systemic infection), UMLS:C0243026(C0243026), MedDRA:10021867(Infection systemic), NDFRT:N0000003861(Sepsis [Disease/Finding]), HP:HP:0100806(Sepsis) +PA162372760 SERKAL Syndrome MONDO:MONDO:0012734(SERKAL syndrome) +PA446956 Serotonin Syndrome """Serotonergic syndrome"", ""Serotonin Syndromes"", ""Serotonin syndrome"", ""Syndrome, Serotonin"", ""Syndromes, Serotonin""" MeSH:D020230(Serotonin Syndrome), SnoMedCT:371089000(Serotonin syndrome), UMLS:C0699828(C0699828), MedDRA:10040108(Serotonin syndrome), NDFRT:N0000004061(Serotonin Syndrome [Disease/Finding]), MONDO:MONDO:0018546(serotonin syndrome) +PA166123787 Serum anticholinergic activity Anticholinergic Syndrome MeSH:D064807(Anticholinergic Syndrome), MedDRA:10042788(Syndrome anticholinergic) +PA136400566 Severe Acute Respiratory Syndrome SARS, SARS-CoV infection, Severe acute respiratory syndrome MeSH:D045169(Severe Acute Respiratory Syndrome), SnoMedCT:398447004(Severe acute respiratory syndrome), UMLS:C1175175(C1175175), MedDRA:10061986(SARS), NDFRT:N0000010956(Severe Acute Respiratory Syndrome [Disease/Finding]), MONDO:MONDO:0005091(severe acute respiratory syndrome) +PA446336 Severe Combined Immunodeficiency """Bare Lymphocyte Syndrome"", ""Bare Lymphocyte Syndromes"", ""Combined Immunodeficiencies, Severe"", ""Combined Immunodeficiency, Severe"", ""Combined T-cell and B-cell immunodeficiency"", ""Immunodeficiencies, Severe Combined"", ""Immunodeficiency Syndrome, Severe Combined"", ""Immunodeficiency, Severe Combined"", ""Immunologic Deficiency, Severe Combined"", ""Lymphocyte Syndrome, Bare"", ""Lymphocyte Syndromes, Bare"", ""SCID"", ""SCID - Severe combined immunodeficiency"", ""Severe Combined Immunodeficiencies"", ""Severe Combined Immunodeficiency Syndrome"", ""Severe Combined Immunologic Deficiency"", ""Severe combined immunodeficiency"", ""Severe combined immunodeficiency disease"", ""Syndrome, Bare Lymphocyte"", ""Syndromes, Bare Lymphocyte""" MeSH:D016511(Severe Combined Immunodeficiency), SnoMedCT:31323000(Severe combined immunodeficiency disease), UMLS:C0085110(C0085110), NDFRT:N0000003425(Severe Combined Immunodeficiency [Disease/Finding]), MONDO:MONDO:0008855(MHC class II deficiency), MONDO:MONDO:0015974(severe combined immunodeficiency), HP:HP:0004430(Severe combined immunodeficiency) +PA166120929 Severe Cutaneous Adverse Reactions SCARs MedDRA:20000020(20000020), MONDO:MONDO:0005594(severe cutaneous adverse reaction) +PA445644 Shock """Acute circulatory failure"", ""Circulatory Collapse"", ""Circulatory collapse"", ""Collapse, Circulatory"", ""Hypovolemic Shock"", ""Peripheral circulatory failure"", ""Peripheral vascular shutdown"", ""Shock - physiological"", ""Shock, Hypovolemic"", ""Shock, NOS"", ""[D]Failure of peripheral circulation"", ""[D]Peripheral circulatory failure""" """MeSH:D012769(Shock)"", ""SnoMedCT:207026006([D]Failure of peripheral circulation)"", ""SnoMedCT:274729009(Shock, unspecified)"", ""SnoMedCT:27942005(Shock)"", ""UMLS:C0036974(C0036974)"", ""MedDRA:10000692(Acute circulatory failure)"", ""NDFRT:N0000002728(Shock [Disease/Finding])"", ""HP:HP:0031273(Shock)""" +PA445645 Shock, Cardiogenic Cardiogenic Shock, [D]Cardiogenic shock, [D]Heart shock """MeSH:D012770(Shock, Cardiogenic)"", ""SnoMedCT:207027002([D]Cardiogenic shock)"", ""SnoMedCT:89138009(Cardiogenic shock)"", ""UMLS:C0036980(C0036980)"", ""MedDRA:10007625(Cardiogenic shock)"", ""NDFRT:N0000002729(Shock, Cardiogenic [Disease/Finding])"", ""MONDO:MONDO:0800175(cardiogenic shock)"", ""HP:HP:0030149(Cardiogenic shock)""" +PA445647 Shock, Septic """Endotoxic Shock"", ""Sepsis-associated hypotension"", ""Septic Shock"", ""Septic shock"", ""Septicaemic shock"", ""Septicemic shock"", ""Shock Syndrome, Toxic"", ""Shock Syndromes, Toxic"", ""Shock, Endotoxic"", ""Shock, Toxic"", ""Syndrome, Toxic Shock"", ""Syndromes, Toxic Shock"", ""Toxic Shock"", ""Toxic Shock Syndrome"", ""Toxic Shock Syndromes"", ""[D]Septic shock"", ""[D]Septicaemic shock"", ""[D]Septicemic shock""" """MeSH:D012772(Shock, Septic)"", ""SnoMedCT:207031008([D]Septic shock)"", ""SnoMedCT:76571007(Septic shock)"", ""UMLS:C0036983(C0036983)"", ""MedDRA:10040070(Septic shock)"", ""NDFRT:N0000002731(Shock, Septic [Disease/Finding])"", ""MONDO:MONDO:0001881(toxic shock syndrome)""" +PA165108290 Short bowel syndrome Acquired short bowel syndrome, Post-resection malabsorption, SBS - Short bowel syndrome, SGS - Short gut syndrome, Short gut syndrome, Short intestine syndrome MeSH:D012778(Short Bowel Syndrome), SnoMedCT:26629001(Short bowel syndrome), UMLS:C0036992(C0036992), MedDRA:10049416(Short-bowel syndrome), NDFRT:N0000002734(Short Bowel Syndrome [Disease/Finding]), MONDO:MONDO:0015183(short bowel syndrome) +PA165818136 Shortened QT interval URL:http://www.ncbi.nlm.nih.gov/omim/609620 SnoMedCT:77867006(Shortened QT interval), UMLS:C0151879(C0151879), MedDRA:10014388(Electrocardiogram QT shortened), HP:HP:0012232(Shortened QT interval) +PA166183773 short qt syndrome MeSH:C580439(Short Qt Syndrome), MONDO:MONDO:0000453(short QT syndrome) +PA166183774 short qt syndrome 1 MeSH:C566506(Short QT Syndrome 1), MONDO:MONDO:0012312(short QT syndrome type 1) +PA165109029 Sialoadenitis infection of the salivary glands MeSH:D012793(Sialadenitis), SnoMedCT:196490009(Sialoadenitis NOS), UMLS:C0037023(C0037023), MedDRA:10040627(Sialadenitis), NDFRT:N0000002740(Sialadenitis [Disease/Finding]), MONDO:MONDO:0006969(sialadenitis) +PA445658 Sialorrhea Drooling, Excessive salivation, Hypersalivation, Salivary hypersecretion, Sialismus MeSH:D012798(Sialorrhea), SnoMedCT:275295002(Excessive salivation - symptom), SnoMedCT:53827007(Excessive salivation), UMLS:C0037036(C0037036), MedDRA:10020746(Hypersalivation), NDFRT:N0000002742(Sialorrhea [Disease/Finding]), HP:HP:0002307(Drooling) +PA166181003 Sickle cell pain crisis Pain crisis (finding), Sickle cell crisis, Sickle cell vasoocclusive crisis SnoMedCT:39565009(Pain crisis), MedDRA:10040643(Sickle cell crisis) +PA445660 Sickle Cell Trait """AS - Sickle cell trait"", ""Cell Trait, Sickle"", ""Cell Traits, Sickle"", ""Drepanocytosis"", ""Haemoglobin S trait"", ""Hemoglobin S trait"", ""Hemoglobin S-A disorder"", ""Heterozygous for Hb S"", ""Heterozygous haemoglobin S"", ""Heterozygous hemoglobin S"", ""RBC's - sickle cells present"", ""Sickle Cell Traits"", ""Sickle cells present"", ""Trait, Sickle Cell"", ""Traits, Sickle Cell""" MeSH:D012805(Sickle Cell Trait), SnoMedCT:16402000(Sickle cell trait), UMLS:C0037054(C0037054), MedDRA:10019174(Hb-S trait), NDFRT:N0000002744(Sickle Cell Trait [Disease/Finding]) +PA445659 Sick Sinus Syndrome """Sick Sinus Syndromes"", ""Sick sinus syndrome"", ""Sinus Syndrome, Sick"", ""Sinus Syndromes, Sick"", ""Syndrome, Sick Sinus"", ""Syndromes, Sick Sinus""" MeSH:D012804(Sick Sinus Syndrome), SnoMedCT:36083008(Sick sinus syndrome), UMLS:C0037052(C0037052), MedDRA:10040639(Sick sinus syndrome), NDFRT:N0000002743(Sick Sinus Syndrome [Disease/Finding]), MONDO:MONDO:0001823(sick sinus syndrome), MONDO:MONDO:0012061(familial sick sinus syndrome), HP:HP:0011704(Sick sinus syndrome) +PA165108117 Sinoatrial block """Sinoauricular block"", ""Sinoauricular block, NOS""" MeSH:D012848(Sinoatrial Block), SnoMedCT:65778007(Sinoatrial block), UMLS:C0037188(C0037188), MedDRA:10065071(Exit block), NDFRT:N0000002754(Sinoatrial Block [Disease/Finding]), MONDO:MONDO:0020806(sinoatrial block), HP:HP:0012723(Sinoatrial block) +PA165108910 Sinus histiocytosis with massive lymphadenopathy Rosai-Dorfman disease, Rosai-Dorman disease """MeSH:D015618(Histiocytosis, Sinus)"", ""SnoMedCT:34287003(Sinus histiocytosis with massive lymphadenopathy)"", ""UMLS:C0019625(C0019625)"", ""MedDRA:10063397(Rosai-Dorfman syndrome)"", ""NDFRT:N0000003297(Histiocytosis, Sinus [Disease/Finding])"", ""MONDO:MONDO:0006412(sinus histiocytosis with massive lymphadenopathy)""" +PA445672 Sinusitis """Sinusitides"", ""Sinusitis, NOS""" MeSH:D012852(Sinusitis), SnoMedCT:36971009(Sinusitis), UMLS:C0037199(C0037199), MedDRA:10040753(Sinusitis), NDFRT:N0000002756(Sinusitis [Disease/Finding]), MONDO:MONDO:0005961(sinusitis), HP:HP:0000246(Sinusitis) +PA153619780 Sitosterolemia SnoMedCT:238104009(Sitosterolemia), UMLS:C0342907(C0342907), MedDRA:10063985(Phytosterolaemia), MONDO:MONDO:0008863(sitosterolemia) +PA445674 Sjogren's Syndrome """Sicca Syndrome"", ""Sicca syndrome"", ""Sjogren Syndrome"", ""Sjogren's disease"", ""Sjogrens Syndrome"", ""Sjögren's disease"", ""Sjögren's syndrome"", ""Syndrome, Sicca"", ""Syndrome, Sjogren's""" MeSH:D012859(Sjogren's Syndrome), SnoMedCT:83901003(Munchausen's syndrome), UMLS:C1527336(C1527336), MedDRA:10018626(Gougerot-Nulock-Houwer syndrome), NDFRT:N0000002758(Sjogren's Syndrome [Disease/Finding]), MONDO:MONDO:0010030(Sjogren syndrome) +PA162373099 Skeletal Dysplasia Congenital skeletal dysplasia, Skeletal dysplasia SnoMedCT:105986008(Skeletal dysplasia), UMLS:C0410528(C0410528), MONDO:MONDO:0018230(skeletal dysplasia), HP:HP:0002652(Skeletal dysplasia) +PA166048720 Skin Diseases, Bacterial """NDFRT:N0000003546(Skin Diseases, Bacterial)"", ""MONDO:MONDO:0024295(skin disease caused by bacterial infection)""" +PA445678 Skin Diseases, Genetic """Disease, Genetic Skin"", ""Diseases, Genetic Skin"", ""Genetic Skin Disease"", ""Genetic Skin Diseases"", ""Skin Disease, Genetic""" """MeSH:D012873(Skin Diseases, Genetic)"", ""SnoMedCT:239001006(Genodermatosis)"", ""UMLS:C0037277(C0037277)"", ""NDFRT:N0000002763(Skin Diseases, Genetic [Disease/Finding])"", ""MONDO:MONDO:0100118(hereditary skin disorder)""" +PA166048791 Skin Diseases, Infectious """NDFRT:N0000002764(Skin Diseases, Infectious)"", ""MONDO:MONDO:0024294(skin disorder caused by infection)""" +PA166048800 Skin Diseases, Parasitic """NDFRT:N0000002766(Skin Diseases, Parasitic)"", ""MONDO:MONDO:0024610(parasitic skin disorder)""" +PA446487 Skin Diseases, Vascular """Disease, Vascular Skin"", ""Diseases, Vascular Skin"", ""Disorder of blood vessels affecting skin"", ""Livedo Reticularis"", ""Skin Disease, Vascular"", ""Vascular Skin Disease"", ""Vascular Skin Diseases"", ""Vascular disease of the skin"", ""Vascular disease of the skin, NOS"", ""Vascular disorder of skin, NOS"", ""Vascular disorders of skin"", ""Vascular disorders of skin NOS""" """MeSH:D017445(Skin Diseases, Vascular)"", ""SnoMedCT:11263005(Vascular disease of the skin)"", ""SnoMedCT:267820009(Vascular disorders of skin NOS)"", ""UMLS:C0162819(C0162819)"", ""MedDRA:10047043(Skin vascular abnormalities)"", ""NDFRT:N0000003578(Skin Diseases, Vascular [Disease/Finding])"", ""MONDO:MONDO:0019293(skin vascular disease)""" +PA166048903 Skin Diseases, Vesiculobullous """NDFRT:N0000002762(Skin Diseases, Vesiculobullous)"", ""MONDO:MONDO:0006617(vesiculobullous skin disease)""" +PA445676 Skin Disorder """Dermatoses"", ""Dermatoses NOS"", ""Dermatosis"", ""Dermatosis, NOS"", ""Disease of skin"", ""Disease, Skin"", ""Diseases, Skin"", ""Skin Disease""" MeSH:D012871(Skin Diseases), SnoMedCT:267859000(Dermatoses NOS), SnoMedCT:95320005(Disorder of skin), UMLS:C0037274(C0037274), MedDRA:10048768(Dermatosis), NDFRT:N0000002761(Skin Diseases [Disease/Finding]), MONDO:MONDO:0005093(skin disorder) +PA445683 Skin Neoplasms """Cancer of Skin"", ""Cancer of the Skin"", ""Cancer, Skin"", ""Cancers, Skin"", ""Cutaneous tumor"", ""Cutaneous tumour"", ""Neoplasm of skin"", ""Neoplasm, Skin"", ""Neoplasms, Skin"", ""Skin Cancer"", ""Skin Cancers"", ""Skin Neoplasm"", ""Skin tumor"", ""Skin tumour"", ""Tumor of skin"", ""Tumour of skin""" MeSH:D012878(Skin Neoplasms), SnoMedCT:126488004(Neoplasm of skin), UMLS:C0037286(C0037286), MedDRA:10029098(Neoplasm skin), NDFRT:N0000002768(Skin Neoplasms [Disease/Finding]), MONDO:MONDO:0002531(skin neoplasm) +PA445687 Sleep Apnea Syndromes """Apnea Syndrome, Sleep"", ""Apnea Syndromes, Sleep"", ""Apnea, Sleep"", ""Apneas, Sleep"", ""Breathing, Sleep-Disordered"", ""Hypersomnia with Periodic Respiration"", ""Hypopnea, Sleep"", ""Hypopneas, Sleep"", ""Mixed Central and Obstructive Sleep Apnea"", ""Mixed Sleep Apnea"", ""Mixed Sleep Apneas"", ""SAS - Sleep apnea syndrome"", ""SAS - Sleep apnoea syndrome"", ""Sleep Apnea"", ""Sleep Apnea Syndrome"", ""Sleep Apnea, Mixed"", ""Sleep Apnea, Mixed Central and Obstructive"", ""Sleep Apnea, Newborn, Primary"", ""Sleep Apneas"", ""Sleep Apneas, Mixed"", ""Sleep Disordered Breathing"", ""Sleep Hypopnea"", ""Sleep Hypopneas"", ""Sleep apnea syndrome"", ""Sleep apnea, NOS"", ""Sleep apnoea"", ""Sleep apnoea syndrome"", ""Sleep hypopnoea"", ""Sleep-Disordered Breathing"", ""[D]Sleep apnea syndrome"", ""[D]Sleep apnoea syndrome""" MeSH:D012891(Sleep Apnea Syndromes), SnoMedCT:313246000([D]Sleep apnea syndrome), SnoMedCT:73430006(Sleep apnoea), UMLS:C0037315(C0037315), MedDRA:10055575(Apnea syndrome), NDFRT:N0000002772(Sleep Apnea Syndromes [Disease/Finding]), MONDO:MONDO:0005296(sleep apnea syndrome) +PA445689 Sleep Disorders """Long Sleeper Syndrome"", ""Long Sleeper Syndromes"", ""Neurogenic Tachypnea, Sleep-Related"", ""Neurogenic Tachypneas, Sleep-Related"", ""Parasomnia"", ""Short Sleeper Syndrome"", ""Short Sleeper Syndromes"", ""Sleep Related Neurogenic Tachypnea"", ""Sleep disorder"", ""Sleep disorder, NOS"", ""Sleep-Related Neurogenic Tachypnea"", ""Sleep-Related Neurogenic Tachypneas"", ""Sleeper Syndrome, Long"", ""Sleeper Syndrome, Short"", ""Sleeper Syndromes, Long"", ""Sleeper Syndromes, Short"", ""Subwakefullness Syndrome"", ""Subwakefullness Syndromes"", ""Syndrome, Long Sleeper"", ""Syndrome, Short Sleeper"", ""Syndrome, Subwakefullness"", ""Syndromes, Long Sleeper"", ""Syndromes, Short Sleeper"", ""Syndromes, Subwakefullness""" MeSH:D012893(Sleep Wake Disorders), SnoMedCT:39898005(Sleep disorder), UMLS:C0851578(C0851578), MedDRA:10013268(Disorder sleep), NDFRT:N0000002774(Sleep Disorders [Disease/Finding]), MONDO:MONDO:0003406(sleep-wake disorder), MONDO:MONDO:0019045(obsolete rare sleep disorder) +PA444624 Sleep Initiation and Maintenance Disorders """Awakening, Early"", ""Chronic Insomnia"", ""DIMS (Disorders of Initiating and Maintaining Sleep)"", ""Disorders of Initiating and Maintaining Sleep"", ""Disorders of initiating and maintaining sleep"", ""Dysfunction, Sleep Initiation"", ""Dysfunctions, Sleep Initiation"", ""Early Awakening"", ""Insomnia"", ""Insomnia Disorder"", ""Insomnia Disorders"", ""Insomnia, Chronic"", ""Insomnia, Nonorganic"", ""Insomnia, Primary"", ""Insomnia, Psychophysiological"", ""Insomnia, Rebound"", ""Insomnia, Secondary"", ""Insomnia, Transient"", ""Insomnias"", ""Nonorganic Insomnia"", ""Primary Insomnia"", ""Psychophysiological Insomnia"", ""Rebound Insomnia"", ""Secondary Insomnia"", ""Sleep Initiation Dysfunction"", ""Sleep Initiation Dysfunctions"", ""Sleeplessness"", ""Transient Insomnia""" """MeSH:D007319(Sleep Initiation and Maintenance Disorders)"", ""SnoMedCT:194437008(Disorders of initiating and maintaining sleep)"", ""UMLS:C0021603(C0021603)"", ""NDFRT:N0000001691(Sleep Initiation and Maintenance Disorders [Disease/Finding])"", ""MONDO:MONDO:0013600(insomnia)"", ""MONDO:MONDO:0024376(sleep disorder, initiating and maintaining sleep)""" +PA166048824 Sleep Paralysis NDFRT:N0000004027(Sleep Paralysis), HP:HP:0025233(Sleep paralysis) +PA446661 Small cell carcinoma """Carcinoma, Oat Cell"", ""Carcinoma, Reserve Cell"", ""Carcinoma, Round Cell"", ""Carcinoma, Small Cell Lung"", ""Carcinomas, Oat Cell"", ""Carcinomas, Reserve Cell"", ""Carcinomas, Round Cell"", ""Carcinomas, Small Cell"", ""Oat Cell Carcinoma"", ""Oat Cell Carcinomas"", ""Oat cell carcinoma"", ""Reserve Cell Carcinoma"", ""Reserve Cell Carcinomas"", ""Reserve cell carcinoma"", ""Round Cell Carcinoma"", ""Round Cell Carcinomas"", ""SCLC"", ""Small Cell Carcinoma"", ""Small Cell Carcinomas"", ""Small Cell Lung Cancer"", ""Small cell carcinoma""" """MeSH:D018288(Carcinoma, Small Cell)"", ""SnoMedCT:74364000(Small cell carcinoma)"", ""SnoMedCT:76817009(Oat cell carcinoma)"", ""UMLS:C0262584(C0262584)"", ""MedDRA:10029882(Oat cell carcinoma)"", ""NDFRT:N0000003752(Carcinoma, Small Cell [Disease/Finding])"", ""MONDO:MONDO:0000402(small cell carcinoma)""" +PA165108426 Small for gestational age SFD - Small-for-dates baby, Small for gestational age baby, Small-for-dates - delivered """MeSH:D007236(Infant, Small for Gestational Age)"", ""SnoMedCT:199612005(Small-for-dates baby)"", ""UMLS:C0021296(C0021296)"", ""MedDRA:10041092(Small for dates baby)"", ""HP:HP:0001518(Small for gestational age)""" +PA445691 Smallpox """Alastrim"", ""Alastrims"", ""Minor, Variola"", ""Minors, Variola"", ""Smallpox, NOS"", ""Variola"", ""Variola Minor"", ""Variola Minors"", ""Variola, NOS"", ""Variolas""" MeSH:D012899(Smallpox), SnoMedCT:186505008(Smallpox NOS), SnoMedCT:67924001(Smallpox), UMLS:C0037354(C0037354), MedDRA:10041197(Smallpox), NDFRT:N0000002776(Smallpox [Disease/Finding]), MONDO:MONDO:0004651(smallpox) +PA166123046 Smoking Cessation Giving up smoking, Quitting smoking, Stopping smoking, continuously abstinent of nicotine, nicotine abstinence MeSH:D016540(Smoking Cessation) +PA445693 Sneezing Finding of sneezing, Sneezings, [D]Sneezing MeSH:D012912(Sneezing), SnoMedCT:162367006(Sneezing symptom), SnoMedCT:162370005(Sneezing symptom NOS), SnoMedCT:206999004([D]Sneezing), SnoMedCT:76067001(Sneezing), UMLS:C0037383(C0037383), MedDRA:10041232(Sneezing), NDFRT:N0000002778(Sneezing [Disease/Finding]) +PA166048850 Soft Tissue Neoplasms NDFRT:N0000002780(Soft Tissue Neoplasms) +PA165108433 Solitary anal ulcer MONDO:MONDO:0002519(anus disorder) +PA166185626 Somnolence Disorders of Excessive Somnolence, Sleepiness, drowsiness MeSH:D000077260(Sleepiness), MeSH:D006970(Disorders of Excessive Somnolence), SnoMedCT:79519003(Drowsiness), MedDRA:10041349(Somnolence), HP:HP:0002329(Drowsiness) +PA446141 Spastic Paraplegia, Hereditary """Autosomal Dominant Hereditary Spastic Paraplegia"", ""Autosomal Dominant Spastic Paraplegia Hereditary"", ""Autosomal Recessive Hereditary Spastic Paraplegia"", ""Autosomal Recessive Spastic Paraplegia, Hereditary"", ""Familial spastic paraplegia syndrome"", ""HMSN Type V"", ""HMSN V"", ""HMSN V (Hereditary Motor and Sensory Neuropathy Type V)"", ""HMSN Vs (Hereditary Motor and Sensory Neuropathy Type V)"", ""Hereditary Autosomal Dominant Spastic Paraplegia"", ""Hereditary Autosomal Recessive Spastic Paraplegia"", ""Hereditary Motor Sensory Neuropathy with Pyramidal Signs"", ""Hereditary Motor-Sensory Neuropathy with Pyramidal Signs"", ""Hereditary Spastic Paraplegia"", ""Hereditary Spastic Paraplegia, Autosomal Recessive"", ""Hereditary Spastic Paraplegias"", ""Hereditary X linked Recessive Spastic Paraplegia"", ""Hereditary X-linked Recessive Spastic Paraplegia"", ""Hereditary motor-sensory neuropathy with pyramidal signs"", ""Hereditary, Spastic Paraplegia, Autosomal Dominant"", ""Hereditary, Spastic Paraplegia, X-linked Recessive"", ""Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia"", ""Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia"", ""Paraplegia, Hereditary Spastic"", ""Paraplegia, Spastic, Hereditary"", ""Paraplegias, Hereditary Spastic"", ""Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy"", ""Spastic Paraplegia, Autosomal Dominant, Hereditary"", ""Spastic Paraplegia, Autosomal Recessive, Hereditary"", ""Spastic Paraplegia, Hereditary, Autosomal Dominant"", ""Spastic Paraplegia, Hereditary, Autosomal Recessive"", ""Spastic Paraplegia, Hereditary, X-linked Recessive"", ""Spastic Paraplegia, X-linked Recessive, Hereditary"", ""Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy"", ""Spastic Paraplegias, Hereditary"", ""Strumpell-Lorrain disease"", ""Type V Hereditary Motor and Sensory Neuropathy"", ""Type V, HMSN"", ""V, HMSN (Hereditary Motor and Sensory Neuropathy Type V)"", ""Vs, HMSN (Hereditary Motor and Sensory Neuropathy Type V)"", ""X linked Recessive Hereditary Spastic Paraplegia"", ""X-linked Recessive Hereditary Spastic Paraplegia"", ""X-linked, Spastic Paraplegia, Hereditary""" """MeSH:D015419(Spastic Paraplegia, Hereditary)"", ""SnoMedCT:39912006(Hereditary spastic paraplegia)"", ""SnoMedCT:76043009(Hereditary sensory-motor neuropathy, type V)"", ""UMLS:C0037773(C0037773)"", ""MedDRA:10019903(Hereditary spastic paraplegia)"", ""NDFRT:N0000003231(Spastic Paraplegia, Hereditary [Disease/Finding])"", ""MONDO:MONDO:0019064(hereditary spastic paraplegia)""" +PA446286 Spina Bifida Cystica """Open Spina Bifida"", ""Spina Bifida Aperta"", ""Spina Bifida Manifesta"", ""Spina Bifida, Open""" MeSH:D016137(Spina Bifida Cystica), SnoMedCT:58557008(Spina bifida aperta), UMLS:C0037917(C0037917), NDFRT:N0000003375(Spina Bifida Cystica [Disease/Finding]), MONDO:MONDO:0017069(spina bifida cystica) +PA445707 Spinal Cord Diseases """MP - Myelopathy"", ""Myelopathies"", ""Myelopathy"", ""Myelopathy NOS"", ""Myelopathy due to disease NOS"", ""Myelopathy, NOS"", ""Neurologic myelopathy"", ""Spinal Cord Disease"", ""Spinal Cord Disorder"", ""Spinal Cord Disorders""" MeSH:D013118(Spinal Cord Diseases), SnoMedCT:192908002(Myelopathy due to disease NOS), SnoMedCT:267587000(Myelopathy NOS), SnoMedCT:48522003(Spinal cord disorder), UMLS:C0037928(C0037928), MedDRA:10028570(Myelopathy), NDFRT:N0000002793(Spinal Cord Diseases [Disease/Finding]), MONDO:MONDO:0002545(spinal cord disorder) +PA445708 Spinal Cord Injuries """Contusion, Spinal Cord"", ""Contusions, Spinal Cord"", ""Cord Contusion, Spinal"", ""Cord Contusions, Spinal"", ""Cord Injuries, Spinal"", ""Cord Injury, Spinal"", ""Cord Laceration, Spinal"", ""Cord Lacerations, Spinal"", ""Cord Transection, Spinal"", ""Cord Transections, Spinal"", ""Cord Trauma, Spinal"", ""Cord Traumas, Spinal"", ""Injuries, Spinal Cord"", ""Injury, Spinal Cord"", ""Laceration, Spinal Cord"", ""Lacerations, Spinal Cord"", ""Myelopathies, Post-Traumatic"", ""Myelopathies, Traumatic"", ""Myelopathy, Post-Traumatic"", ""Myelopathy, Traumatic"", ""Post Traumatic Myelopathy"", ""Post-Traumatic Myelopathies"", ""Post-Traumatic Myelopathy"", ""SCI - Spinal cord injury"", ""Spinal Cord Contusion"", ""Spinal Cord Contusions"", ""Spinal Cord Injury"", ""Spinal Cord Laceration"", ""Spinal Cord Lacerations"", ""Spinal Cord Transection"", ""Spinal Cord Transections"", ""Spinal Cord Trauma"", ""Spinal Cord Traumas"", ""Transection, Spinal Cord"", ""Transections, Spinal Cord"", ""Trauma, Spinal Cord"", ""Traumas, Spinal Cord"", ""Traumatic Myelopathies"", ""Traumatic Myelopathy""" MeSH:D013119(Spinal Cord Injuries), SnoMedCT:90584004(Spinal cord injury), UMLS:C0037929(C0037929), MedDRA:10041552(Spinal cord injury), NDFRT:N0000002794(Spinal Cord Injuries [Disease/Finding]), MONDO:MONDO:0043797(spinal cord injury) +PA166048855 Spinal Cord Ischemia NDFRT:N0000004176(Spinal Cord Ischemia), MONDO:MONDO:0020688(spinal cord ischemia) +PA446284 Spinal Dysraphism """Bifida, Spina"", ""Dysraphia, Spinal"", ""Dysraphias, Spinal"", ""Dysraphicus, Status"", ""Dysraphism, Spinal"", ""Dysraphisms, Spinal"", ""Rachischises"", ""Rachischisis"", ""SB - Spina bifida"", ""Schistorrhachis"", ""Spina Bifida"", ""Spina Bifidas"", ""Spina bifida"", ""Spina bifida NOS"", ""Spinal Dysraphia"", ""Spinal Dysraphias"", ""Spinal Dysraphisms"", ""Status Dysraphicus""" MeSH:D016135(Spinal Dysraphism), SnoMedCT:204017003(Spina bifida NOS), SnoMedCT:67531005(Spina bifida), UMLS:C0080178(C0080178), MedDRA:10041524(Spina bifida), NDFRT:N0000003373(Spinal Dysraphism [Disease/Finding]), MONDO:MONDO:0006995(tethered spinal cord syndrome), MONDO:MONDO:0008449(spina bifida), MONDO:MONDO:0019351(isolated spina bifida), HP:HP:0010301(Spinal dysraphism) +PA446067 Spinal Muscular Atrophies of Childhood """Disease, Kugelberg-Welander"", ""Disease, Werdnig Hoffman"", ""Disease, Werdnig-Hoffmann"", ""Diseases, Werdnig Hoffman"", ""HMN (Hereditary Motor Neuropathy) Proximal Type I"", ""HMN Proximal Type I"", ""Hoffman Disease, Werdnig"", ""Hoffman Diseases, Werdnig"", ""Infantile Spinal Muscular Atrophy"", ""Juvenile Spinal Muscular Atrophy"", ""Kugelberg Welander Disease"", ""Kugelberg-Welander Disease"", ""Muscular Atrophy, Spinal, Infantile"", ""Muscular Atrophy, Spinal, Type I"", ""Muscular Atrophy, Spinal, Type II"", ""Muscular Atrophy, Spinal, Type III"", ""Proximal Hereditary Motor Neuropathy Type I"", ""Spinal Muscular Atrophy Type I"", ""Spinal Muscular Atrophy Type II"", ""Spinal Muscular Atrophy Type III"", ""Spinal Muscular Atrophy, Infantile"", ""Spinal Muscular Atrophy, Juvenile"", ""Spinal Muscular Atrophy, Type I"", ""Spinal Muscular Atrophy, Type II"", ""Spinal Muscular Atrophy, Type III"", ""Type I Spinal Muscular Atrophy"", ""Type II Spinal Muscular Atrophy"", ""Type III Spinal Muscular Atrophy"", ""Werdnig Hoffman Disease"", ""Werdnig Hoffman Diseases"", ""Werdnig Hoffmann Disease"", ""Werdnig-Hoffmann Disease""" """MeSH:D014897(Spinal Muscular Atrophies of Childhood)"", ""UMLS:C0700595(Spinal Muscular Atrophies of Childhood [Disease/Finding])"", ""NDFRT:N0000003158(Spinal Muscular Atrophies of Childhood [Disease/Finding])"", ""MONDO:MONDO:0009669(spinal muscular atrophy, type 1)""" +PA447163 Spondylarthropathies Disorder of joint of spine, Spondylarthropathy, Spondyloarthropathy, Spondyloarthropathy (disorder) MeSH:D025242(Spondylarthropathies), SnoMedCT:372109003(Disorder of joint of spine), UMLS:C0949691(C0949691), MedDRA:10052775(Spondyloarthropathies), NDFRT:N0000010934(Spondylarthropathies [Disease/Finding]) +PA445724 Spondylitis, Ankylosing """Ankylosing Spondylitides"", ""Ankylosing Spondylitis"", ""Ankylosing spondylitis"", ""Ankylosing spondylitis, NOS"", ""Bechterew Disease"", ""Bechterew's Disease"", ""Bechterews Disease"", ""Disease, Bechterew"", ""Disease, Bechterew's"", ""Disease, Marie-Struempell"", ""Marie Struempell Disease"", ""Marie-Struempell Disease"", ""Marie-Strumpell spondylitis"", ""Rheumatoid Spondylitides"", ""Rheumatoid Spondylitis"", ""Rheumatoid arthritis of spine"", ""Rheumatoid arthritis of spine, NOS"", ""Spondylarthritis Ankylopoietica"", ""Spondylitides, Ankylosing"", ""Spondylitides, Rheumatoid"", ""Spondylitis, Rheumatoid""" """MeSH:D013167(Spondylitis, Ankylosing)"", ""SnoMedCT:9631008(Ankylosing spondylitis)"", ""UMLS:C0038013(C0038013)"", ""MedDRA:10002539(Ank spond)"", ""NDFRT:N0000002810(Spondylitis, Ankylosing [Disease/Finding])"", ""MONDO:MONDO:0005306(ankylosing spondylitis)""" +PA166048852 Spondylolysis NDFRT:N0000002812(Spondylolysis), MONDO:MONDO:0005541(spondylolysis), HP:HP:0003304(Spondylolysis) +PA165108741 Sporotrichosis NOS MeSH:D013174(Sporotrichosis), SnoMedCT:187078008(Sporotrichosis NOS), UMLS:C0038034(C0038034), MedDRA:10041733(Sporothric schenckii infection), NDFRT:N0000002813(Sporotrichosis [Disease/Finding]), MONDO:MONDO:0005968(sporotrichosis) +PA166163391 statin-related myopathy statin toxicity, statin-induced myopathy MONDO:MONDO:0033170(statin toxicity) +PA166179129 Status asthmaticus Acute exacerbation of asthma, Asthma Attack, Exacerbation of asthma (disorder) MeSH:D013224(Status Asthmaticus), SnoMedCT:281239006(Exacerbation of asthma), SnoMedCT:708038006(708038006), MedDRA:10015575(exacerbation of asthma), MONDO:MONDO:0004766(status asthmaticus), HP:HP:0012653(Status asthmaticus) +PA445735 Status Asthmaticus """Acute severe asthma"", ""Asthmatic Crises"", ""Asthmatic Crisis"", ""Asthmatic Shock"", ""Asthmatic Shocks"", ""Asthmaticus, Status"", ""Crises, Asthmatic"", ""Crisis, Asthmatic"", ""Shock, Asthmatic"", ""Shocks, Asthmatic"", ""Status asthmaticus""" """MeSH:D013224(Status Asthmaticus)"", ""SnoMedCT:266363006(Status asthmaticus NOS)"", ""SnoMedCT:57546000(Asthma with status asthmaticus)"", ""UMLS:C0038218(C0038218)"", ""MedDRA:10003562(Asthma, unspecified type, with status asthmaticus)"", ""NDFRT:N0000002821(Status Asthmaticus [Disease/Finding])"", ""MONDO:MONDO:0004766(status asthmaticus)"", ""HP:HP:0012653(Status asthmaticus)""" +PA445736 Status Epilepticus """Absence Status"", ""Complex Partial Status Epilepticus"", ""Electrographic Status Epilepticus"", ""Generalized Convulsive Status Epilepticus"", ""Generalized Status Epilepticus"", ""Grand Mal Status Epilepticus"", ""Non Convulsive Status Epilepticus"", ""Non-Convulsive Status Epilepticus"", ""Petit Mal Status"", ""Simple Partial Status Epilepticus"", ""Status Epilepticus, Complex Partial"", ""Status Epilepticus, Electrographic"", ""Status Epilepticus, Generalized"", ""Status Epilepticus, Generalized Convulsive"", ""Status Epilepticus, Grand Mal"", ""Status Epilepticus, Non Convulsive"", ""Status Epilepticus, Non-Convulsive"", ""Status Epilepticus, Simple Partial"", ""Status Epilepticus, Subclinical"", ""Status epilepticus"", ""Status, Absence"", ""Status, Petit Mal"", ""Subclinical Status Epilepticus""" MeSH:D013226(Status Epilepticus), SnoMedCT:230456007(Status epilepticus), UMLS:C0038220(C0038220), MedDRA:10041962(Status epilepticus), NDFRT:N0000002822(Status Epilepticus [Disease/Finding]), MONDO:MONDO:0002125(status epilepticus), HP:HP:0002133(Status epilepticus) +PA445738 Stevens-Johnson Syndrome Erythema multiforme exudativum, Erythema multiforme major, Stevens Johnson Syndrome MeSH:D013262(Stevens-Johnson Syndrome), SnoMedCT:73442001(Stevens-Johnson syndrome), UMLS:C0038325(C0038325), MedDRA:10006561(Bullous erythema multiforme), NDFRT:N0000002824(Stevens-Johnson Syndrome [Disease/Finding]), MONDO:MONDO:0018229(Stevens-Johnson syndrome) +PA165109050 Stokes-Adams-Morgagni syndrome MONDO:MONDO:0043475(Adams-Stokes syndrome) +PA445742 Stomach Neoplasms """Cancer of Stomach"", ""Cancer of the Stomach"", ""Cancer, Gastric"", ""Cancer, Stomach"", ""Cancers, Gastric"", ""Cancers, Stomach"", ""Gastric Cancer"", ""Gastric Cancers"", ""Gastric Neoplasm"", ""Gastric Neoplasms"", ""Neoplasm of stomach"", ""Neoplasm, Gastric"", ""Neoplasm, Stomach"", ""Neoplasms, Gastric"", ""Neoplasms, Stomach"", ""Stomach Cancer"", ""Stomach Cancers"", ""Stomach Neoplasm"", ""Tumor of stomach"", ""Tumour of stomach""" MeSH:D013274(Stomach Neoplasms), SnoMedCT:126824007(Neoplasm of stomach), UMLS:C0038356(C0038356), MedDRA:10061968(Gastric neoplasm), NDFRT:N0000002828(Stomach Neoplasms [Disease/Finding]), MONDO:MONDO:0021085(gastric neoplasm) +PA445744 Stomach Ulcer """GU - Gastric ulcer"", ""Gastric ulcer"", ""Gastric ulcer NOS"", ""Gastric ulceration"", ""Stomach Ulcers"", ""Stomach ulcer"", ""Ulcer, Stomach"", ""Ulcers, Stomach"", ""Unspecified gastric ulcer"", ""Unspecified gastric ulcer NOS""" HP:HP:0002592(Gastric ulcer) +PA445746 Stomatitis Stomatitides, Stomatitis NOS MeSH:D013280(Stomatitis), SnoMedCT:196527002(Stomatitis NOS), SnoMedCT:61170000(Stomatitis), UMLS:C0038362(C0038362), MedDRA:10028130(Mucositis oral), NDFRT:N0000002832(Stomatitis [Disease/Finding]), MONDO:MONDO:0004842(stomatitis), HP:HP:0010280(Stomatitis) +PA445750 Strabismus """Comitant Strabismus"", ""Comitant Strabismus, Convergent"", ""Convergent Comitant Strabismus"", ""Disorder of binocular eye movements"", ""Heterophoria NOS"", ""Heterotropia"", ""Heterotropia, NOS"", ""Hypertropia"", ""Hypertropias"", ""Mechanical Strabismus"", ""Noncomitant Strabismus"", ""Phoria"", ""Phorias"", ""Squint"", ""Squint, NOS"", ""Strabismus NOS"", ""Strabismus, Comitant"", ""Strabismus, Convergent Comitant"", ""Strabismus, Mechanical"", ""Strabismus, NOS"", ""Strabismus, Noncomitant"", ""Unspecified heterophoria"", ""Unspecified heterotropia""" MeSH:D013285(Strabismus), SnoMedCT:128602000(Heterotropia), SnoMedCT:194107007(Unspecified heterotropia), SnoMedCT:194114009(Unspecified heterophoria), SnoMedCT:194116006(Heterophoria NOS), SnoMedCT:194137003(Strabismus NOS), SnoMedCT:22066006(Strabismus), UMLS:C0038379(C0038379), MedDRA:10061010(Binocular eye movement disorder), NDFRT:N0000002836(Strabismus [Disease/Finding]), MONDO:MONDO:0003432(strabismus), HP:HP:0000486(Strabismus) +PA445751 Streptococcal Infections """Infection, Streptococcal"", ""Infections, Streptococcal"", ""Streptococcal Infection"", ""Streptococcal infection, NOS""" MeSH:D013290(Streptococcal Infections), SnoMedCT:85769006(Streptococcal infectious disease), UMLS:C0038395(C0038395), MedDRA:10004042(Bacterial infection due to unspecified streptococcus), NDFRT:N0000002837(Streptococcal Infections [Disease/Finding]), MONDO:MONDO:0021680(streptococcal infection) +PA445752 Stress """Pressure, NOS"", ""State of stress"", ""Stress, NOS"", ""Stresses""" SnoMedCT:73595000(Stress), UMLS:C0038435(C0038435), MedDRA:10042209(Stress) +PA447054 Stroke """Accident, Acute Cerebrovascular"", ""Accident, Brain Vascular"", ""Accident, Cerebrovascular"", ""Accidents, Acute Cerebrovascular"", ""Accidents, Brain Vascular"", ""Accidents, Cerebrovascular"", ""Acute Cerebrovascular Accident"", ""Acute Cerebrovascular Accidents"", ""Acute Stroke"", ""Acute Strokes"", ""Apoplexy"", ""Apoplexy, Cerebrovascular"", ""Brain Vascular Accident"", ""Brain Vascular Accidents"", ""CVA (Cerebrovascular Accident)"", ""CVA - Cerebrovascular accident"", ""CVAs (Cerebrovascular Accident)"", ""Cerebral Stroke"", ""Cerebral Strokes"", ""Cerebrovascular Accident"", ""Cerebrovascular Accident, Acute"", ""Cerebrovascular Accidents"", ""Cerebrovascular Accidents, Acute"", ""Cerebrovascular Apoplexy"", ""Cerebrovascular Stroke"", ""Cerebrovascular Strokes"", ""Cerebrovascular accident"", ""Infarction, Posterior Cerebral Artery"", ""Stroke"", ""Stroke, Acute"", ""Stroke, Cerebral"", ""Stroke, Cerebrovascular"", ""Strokes"", ""Strokes, Acute"", ""Strokes, Cerebral"", ""Strokes, Cerebrovascular"", ""Vascular Accident, Brain"", ""Vascular Accidents, Brain""" MeSH:D020521(Stroke), SnoMedCT:230690007(Cerebrovascular accident), SnoMedCT:270883006(Stroke and cerebrovascular accident unspecified), SnoMedCT:313267000(Stroke NOS), UMLS:C0038454(C0038454), MedDRA:10000374(Accident cerebrovascular), NDFRT:N0000004160(Stroke [Disease/Finding]), MONDO:MONDO:0005098(stroke disorder), HP:HP:0001297(Stroke) +PA165108561 Stroke and cerebrovascular accident unspecified MeSH:D020521(Stroke), SnoMedCT:270883006(Stroke and cerebrovascular accident unspecified), UMLS:C0038454(C0038454), MedDRA:10000374(Accident cerebrovascular), NDFRT:N0000004160(Stroke [Disease/Finding]), MONDO:MONDO:0005098(stroke disorder) +PA166048863 Strongyloidiasis NDFRT:N0000002841(Strongyloidiasis), MONDO:MONDO:0005974(strongyloidiasis) +PA445757 Stuttering """Acquired Stuttering"", ""Adult Stuttering"", ""Childhood Stuttering"", ""Developmental Stuttering"", ""Stammering"", ""Stuttering, Acquired"", ""Stuttering, Adult"", ""Stuttering, Childhood"", ""Stuttering, Developmental""" MeSH:D013342(Stuttering), SnoMedCT:39423001(Stuttering), UMLS:C0038506(C0038506), MedDRA:10042266(Stutter), NDFRT:N0000002844(Stuttering [Disease/Finding]), HP:HP:0025268(Stuttering) +PA445759 Subarachnoid Hemorrhage """Aneurysmal Subarachnoid Hemorrhage"", ""Aneurysmal Subarachnoid Hemorrhages"", ""Hemorrhage, Aneurysmal Subarachnoid"", ""Hemorrhage, Intracranial Subarachnoid"", ""Hemorrhage, Perinatal Subarachnoid"", ""Hemorrhage, Spontaneous Subarachnoid"", ""Hemorrhage, Subarachnoid"", ""Hemorrhages, Aneurysmal Subarachnoid"", ""Hemorrhages, Intracranial Subarachnoid"", ""Hemorrhages, Perinatal Subarachnoid"", ""Hemorrhages, Spontaneous Subarachnoid"", ""Hemorrhages, Subarachnoid"", ""Intracranial Subarachnoid Hemorrhage"", ""Intracranial Subarachnoid Hemorrhages"", ""Perinatal Subarachnoid Hemorrhage"", ""Perinatal Subarachnoid Hemorrhages"", ""SAH (Subarachnoid Hemorrhage)"", ""SAH - Subarachnoid haemorrhage"", ""SAH - Subarachnoid hemorrhage"", ""SAHs (Subarachnoid Hemorrhage)"", ""Spontaneous Subarachnoid Hemorrhage"", ""Spontaneous Subarachnoid Hemorrhages"", ""Subarachnoid Hemorrhage, Aneurysmal"", ""Subarachnoid Hemorrhage, Intracranial"", ""Subarachnoid Hemorrhage, Perinatal"", ""Subarachnoid Hemorrhage, Spontaneous"", ""Subarachnoid Hemorrhages"", ""Subarachnoid Hemorrhages, Aneurysmal"", ""Subarachnoid Hemorrhages, Intracranial"", ""Subarachnoid Hemorrhages, Perinatal"", ""Subarachnoid Hemorrhages, Spontaneous"", ""Subarachnoid haemorrhage"", ""Subarachnoid hemorrhage""" MeSH:D013345(Subarachnoid Hemorrhage), SnoMedCT:195162008(Subarachnoid hemorrhage NOS), SnoMedCT:21454007(Subarachnoid haemorrhage), UMLS:C0038525(C0038525), MedDRA:10055845(Haemorrhage subarachnoid), NDFRT:N0000002846(Subarachnoid Hemorrhage [Disease/Finding]), MONDO:MONDO:0005099(subarachnoid hemorrhage), HP:HP:0002138(Subarachnoid hemorrhage) +PA446876 Substance-Related Disorders """Abuse, Drug"", ""Abuse, Substance"", ""Abuses, Substance"", ""Addiction, Drug"", ""Addiction, Substance"", ""Dependence, Drug"", ""Dependence, Substance"", ""Disorder, Drug Use"", ""Disorder, Substance Use"", ""Drug Abuse"", ""Drug Addiction"", ""Drug Dependence"", ""Drug Habituation"", ""Drug Usage"", ""Drug Use Disorder"", ""Drug Use Disorders"", ""Glue Sniffing"", ""Habituation, Drug"", ""Organic Mental Disorders, Substance Induced"", ""Organic Mental Disorders, Substance-Induced"", ""Sniffing, Glue"", ""Substance Abuse"", ""Substance Abuses"", ""Substance Addiction"", ""Substance Dependence"", ""Substance Use Disorder"", ""Substance Use Disorders"", ""Usage, Drug""" MeSH:D019966(Substance-Related Disorders), UMLS:C0236969(Substance-related disorders), MedDRA:10064465(Substance-related disorders), NDFRT:N0000003977(Substance-Related Disorders [Disease/Finding]), MONDO:MONDO:0002494(substance-related disorder) +PA445768 Substance Withdrawal Syndrome """Drug Withdrawal Symptom"", ""Drug Withdrawal Symptoms"", ""Substance Withdrawal Syndromes"", ""Symptom, Drug Withdrawal"", ""Symptom, Withdrawal"", ""Symptoms, Drug Withdrawal"", ""Symptoms, Withdrawal"", ""Syndrome, Substance Withdrawal"", ""Syndromes, Substance Withdrawal"", ""Withdrawal Symptom"", ""Withdrawal Symptom, Drug"", ""Withdrawal Symptoms"", ""Withdrawal Symptoms, Drug"", ""Withdrawal Syndrome, Substance"", ""Withdrawal Syndromes, Substance""" MeSH:D013375(Substance Withdrawal Syndrome), UMLS:C0038587(Substance Withdrawal Syndrome [Disease/Finding]), NDFRT:N0000002855(Substance Withdrawal Syndrome [Disease/Finding]), MONDO:MONDO:0005567(substance withdrawal syndrome) +PA446379 Sudden cardiac death """Cardiac Death, Sudden"", ""Cardiac Sudden Death"", ""Death, Cardiac Sudden"", ""Death, Sudden Cardiac"", ""Sudden Cardiac Death"", ""Sudden Death, Cardiac"", ""Sudden cardiac death""" """MeSH:D016757(Death, Sudden, Cardiac)"", ""SnoMedCT:95281009(Sudden cardiac death)"", ""UMLS:C0085298(C0085298)"", ""MedDRA:10049418(Sudden cardiac death)"", ""NDFRT:N0000003470(Death, Sudden, Cardiac [Disease/Finding])"", ""HP:HP:0001645(Sudden cardiac death)""" +PA443843 Sudden death Sudden Death, Sudden death """MeSH:D003645(Death, Sudden)"", ""SnoMedCT:26636000(Sudden death)"", ""UMLS:C0011071(C0011071)"", ""MedDRA:10052810(Death sudden)"", ""NDFRT:N0000000904(Death, Sudden [Disease/Finding])"", ""HP:HP:0001699(Sudden death)""" +PA445769 Sudden Infant Death """Cot Death"", ""Cot Deaths"", ""Cot death"", ""Crib Death"", ""Death, Cot"", ""Death, Crib"", ""Death, Sudden Infant"", ""Infant Death, Sudden"", ""SID"", ""SIDS"", ""Sudden Infant Death Syndrome"", ""[D]Cot death"", ""[D]Crib death"", ""[D]Sudden infant death syndrome""" MeSH:D013398(Sudden Infant Death), SnoMedCT:207534005([D]Sudden infant death syndrome), SnoMedCT:207535006([D]Cot death), SnoMedCT:207536007([D]Crib death), SnoMedCT:51178009(Sudden infant death syndrome), UMLS:C0038644(C0038644), MedDRA:10011220(Cot death), NDFRT:N0000002856(Sudden Infant Death [Disease/Finding]), MONDO:MONDO:0010086(obsolete sudden infant death syndrome) +PA166186039 suicidal ideation Ideation, Suicidal MeSH:D059020(Suicidal Ideation), HP:HP:0031589(Suicidal ideation) +PA165374639 Suicide MeSH:D013405(Suicide), UMLS:C0038661(Suicide), MedDRA:10042462(Suicide), HP:HP:5200330(Suicide behaviors) +PA445771 Sunburn Erythema solare, Solar dermatitis, Solar erythema, Sunburns MeSH:D013471(Sunburn), SnoMedCT:23346002(Sunburn), SnoMedCT:403194002(Solar erythema), UMLS:C0038814(C0038814), MedDRA:10041306(Solar sensitiveness), NDFRT:N0000002858(Sunburn [Disease/Finding]), MONDO:MONDO:0005326(sunburn) +PA445776 Supranuclear Palsy, Progressive """Nuchal dystonia-dementia syndrome"", ""Ophthalmoplegia, Progressive Supranuclear"", ""Ophthalmoplegias, Progressive Supranuclear"", ""PSP - Progressive supranuclear palsy"", ""Palsy, Progressive Supranuclear"", ""Progressive Supranuclear Ophthalmoplegia"", ""Progressive Supranuclear Ophthalmoplegias"", ""Progressive Supranuclear Palsies"", ""Progressive Supranuclear Palsy"", ""Progressive Supranuclear Palsy (PSP)"", ""Progressive supranuclear palsy"", ""Steele Richardson Olszewski Disease"", ""Steele Richardson Olszewski Syndrome"", ""Steele-Richardson-Olszewski Disease"", ""Steele-Richardson-Olszewski Syndrome"", ""Supranuclear Ophthalmoplegia, Progressive"", ""Supranuclear Ophthalmoplegias, Progressive"", ""Supranuclear Palsies, Progressive"", ""Supranuclear Palsy, Progressive"", ""Syndrome, Steele-Richardson-Olszewski""" """MeSH:D013494(Supranuclear Palsy, Progressive)"", ""SnoMedCT:28978003(Progressive supranuclear ophthalmoplegia)"", ""UMLS:C0038868(C0038868)"", ""MedDRA:10036813(Progressive supranuclear palsy)"", ""NDFRT:N0000002863(Supranuclear Palsy, Progressive [Disease/Finding])"", ""MONDO:MONDO:0019037(progressive supranuclear palsy)""" +PA166314441 surgery intraoperative procedures MeSH:Q000601(surgery) +PA166131629 Sustained virological response (SVR) Sustained viral response SnoMedCT:879968001(Sustained viral response) +PA445787 Syncope """Attack, Drop"", ""Cardiogenic Syncope"", ""Cardiogenic Syncopes"", ""Carotid Sinus Syncope"", ""Carotid Sinus Syncopes"", ""Convulsive Syncope"", ""Convulsive Syncopes"", ""Deglutitional Syncope"", ""Deglutitional Syncopes"", ""Drop Attack"", ""Drop Attacks"", ""Effort Syncope"", ""Effort Syncopes"", ""Episode, Syncopal"", ""Fainting"", ""Hyperventilation Syncope"", ""Hyperventilation Syncopes"", ""Micturition Syncope"", ""Micturition Syncopes"", ""Postural Syncope"", ""Postural Syncopes"", ""Presyncope"", ""Presyncopes"", ""Situational Syncope"", ""Situational Syncopes"", ""Stokes-Adams Syncope"", ""Stokes-Adams Syncopes"", ""Syncopal Episode"", ""Syncopal Episodes"", ""Syncopal Vertigo"", ""Syncope symptom"", ""Syncope, Cardiogenic"", ""Syncope, Carotid Sinus"", ""Syncope, Convulsive"", ""Syncope, Deglutitional"", ""Syncope, Effort"", ""Syncope, Hyperventilation"", ""Syncope, Micturition"", ""Syncope, Postural"", ""Syncope, Situational"", ""Syncope, Stokes Adams"", ""Syncope, Stokes-Adams"", ""Syncope, Tussive"", ""Syncopes"", ""Syncopes, Cardiogenic"", ""Syncopes, Carotid Sinus"", ""Syncopes, Convulsive"", ""Syncopes, Deglutitional"", ""Syncopes, Effort"", ""Syncopes, Hyperventilation"", ""Syncopes, Micturition"", ""Syncopes, Postural"", ""Syncopes, Situational"", ""Syncopes, Stokes-Adams"", ""Syncopes, Tussive"", ""Tussive Syncope"", ""Tussive Syncopes"", ""Vertigo, Syncopal"", ""Vertigos, Syncopal"", ""[D]Fainting"", ""[D]Syncope""" MeSH:D013575(Syncope), SnoMedCT:206725005([D]Syncope and collapse), SnoMedCT:206727002([D]Fainting), SnoMedCT:271594007(Syncope), SnoMedCT:272030005(Syncope symptom), SnoMedCT:309585006(Syncope and collapse), UMLS:C0039070(C0039070), MedDRA:10009911(Collapse fleeting), NDFRT:N0000002873(Syncope [Disease/Finding]), HP:HP:0001279(Syncope) +PA446835 Syncope, Vasovagal """Cerebral Syncope"", ""Cerebral Syncopes"", ""Faint, Neurally Mediated"", ""Faints, Neurally Mediated"", ""Gower's syndrome"", ""Malignant Neurocardiogenic Syncope"", ""Malignant Neurocardiogenic Syncopes"", ""Neurally Mediated Faint"", ""Neurally Mediated Faints"", ""Neurocardiogenic Syncope"", ""Neurocardiogenic Syncope, Malignant"", ""Neurocardiogenic Syncopes"", ""Neurocardiogenic Syncopes, Malignant"", ""Neurogenic Syncope"", ""Neurogenic Syncopes"", ""Supine Syncope"", ""Supine Syncopes"", ""Syncope, Cerebral"", ""Syncope, Malignant Neurocardiogenic"", ""Syncope, Neurocardiogenic"", ""Syncope, Neurogenic"", ""Syncope, Supine"", ""Syncope, Vasodepressor"", ""Syncope, Vasovagal, Neurally-Mediated"", ""Syncopes, Cerebral"", ""Syncopes, Malignant Neurocardiogenic"", ""Syncopes, Neurocardiogenic"", ""Syncopes, Neurogenic"", ""Syncopes, Supine"", ""Syncopes, Vasodepressor"", ""Syncopes, Vasovagal"", ""Vagal attack"", ""Vaso vagal episode"", ""Vasodepressor Syncope"", ""Vasodepressor Syncopes"", ""Vasodepressor syncope"", ""Vasovagal Syncope"", ""Vasovagal Syncopes"", ""Vasovagal attack"", ""Vasovagal syncope"", ""[D]Vasovagal attack""" HP:HP:0012668(Vasovagal syncope) +PA445788 Syndactyly Congenital webbing of digits, Symphalangism, Syndactylia, Syndactylias, Syndactylies, Syndactylism, Syndactylus, Syndactyly NOS MeSH:D013576(Syndactyly), SnoMedCT:268252004(Syndactyly NOS), SnoMedCT:373413006(Syndactyly), UMLS:C0039075(C0039075), MedDRA:10042778(Syndactyly), NDFRT:N0000002874(Syndactyly [Disease/Finding]), MONDO:MONDO:0019530(non-syndromic syndactyly), MONDO:MONDO:0021002(syndactyly), HP:HP:0001159(Syndactyly) +PA445795 Syphilis """Lues"", ""Syphili"", ""Syphilis, stage unspecified"", ""Treponemal infection""" MeSH:D013587(Syphilis), SnoMedCT:186907007(Syphilis NOS), SnoMedCT:76272004(Syphilis), UMLS:C0039128(C0039128), MedDRA:10063034(Lues), NDFRT:N0000002881(Syphilis [Disease/Finding]), MONDO:MONDO:0005976(syphilis) +PA444822 Systemic lupus erythematosus """Disease, Libman-Sacks"", ""Libman Sacks Disease"", ""Libman-Sacks Disease"", ""Lupus Erythematosus Disseminatus"", ""SLE"", ""Systemic Lupus Erythematosus""" """MeSH:D008180(Lupus Erythematosus, Systemic)"", ""SnoMedCT:201439005(Systemic lupus erythematosus NOS)"", ""SnoMedCT:55464009(Systemic lupus erythematosus)"", ""UMLS:C0024141(C0024141)"", ""MedDRA:10013446(Disseminated lupus erythematosus)"", ""NDFRT:N0000001887(Lupus Erythematosus, Systemic [Disease/Finding])"", ""MONDO:MONDO:0007915(systemic lupus erythematosus)"", ""HP:HP:0002725(Systemic lupus erythematosus)""" +PA445617 Systemic sclerosis """Diffuse Scleroderma"", ""Progressive Scleroderma"", ""Progressive Systemic Scleroses"", ""Progressive Systemic Sclerosis"", ""SS - Systemic sclerosis"", ""Scleroderma"", ""Scleroderma syndrome"", ""Scleroderma, Diffuse"", ""Scleroderma, Progressive"", ""Scleroses, Progressive Systemic"", ""Scleroses, Systemic"", ""Sclerosis, Progressive Systemic"", ""Sclerosis, Systemic"", ""Systemic Scleroderma"", ""Systemic Scleroses"", ""Systemic Scleroses, Progressive"", ""Systemic Sclerosis"", ""Systemic Sclerosis, Progressive"", ""Systemic sclerosis"", ""Thibierge-Weissenbach syndrome""" """MeSH:D012595(Scleroderma, Systemic)"", ""SnoMedCT:89155008(Systemic sclerosis)"", ""UMLS:C0036421(C0036421)"", ""MedDRA:10036814(Progressive systemic sclerosis)"", ""NDFRT:N0000002701(Scleroderma, Systemic [Disease/Finding])"", ""MONDO:MONDO:0005100(systemic sclerosis)""" +PA166128188 systolic blood pressure SAP - Systolic arterial pressure, Systolic blood pressure (observable entity) SnoMedCT:271649006(Systolic blood pressure) +PA445802 Tachycardia """Rapid heart beat"", ""Tachyarrhythmia"", ""Tachyarrhythmias"", ""Tachycardia, NOS"", ""Tachycardias"", ""[D]Rapid heart beat"", ""[D]Tachycardia, unspecified""" """MeSH:D013610(Tachycardia)"", ""SnoMedCT:207003004([D]Tachycardia, unspecified)"", ""SnoMedCT:3424008(Tachycardia)"", ""SnoMedCT:86651002(Pulse fast)"", ""UMLS:C0039231(C0039231)"", ""MedDRA:10019302(Heart rate high)"", ""NDFRT:N0000002888(Tachycardia [Disease/Finding])"", ""HP:HP:0001649(Tachycardia)""" +PA445806 Tachycardia, Paroxysmal """Bouveret-Hoffmann syndrome"", ""Essential paroxysmal tachycardia"", ""PT - Paroxysmal tachycardia"", ""Paroxysmal Reciprocal Tachycardia"", ""Paroxysmal Reciprocal Tachycardias"", ""Paroxysmal Tachycardia"", ""Paroxysmal Tachycardias"", ""Paroxysmal tachycardia"", ""Paroxysmal tachycardia NOS"", ""Paroxysmal tachycardia unspecified"", ""Paroxysmal tachycardia, NOS"", ""Reciprocal Tachycardia"", ""Reciprocal Tachycardia, Paroxysmal"", ""Reciprocal Tachycardias"", ""Reciprocal Tachycardias, Paroxysmal"", ""Tachycardia, Paroxysmal Reciprocal"", ""Tachycardia, Reciprocal"", ""Tachycardias, Paroxysmal"", ""Tachycardias, Paroxysmal Reciprocal"", ""Tachycardias, Reciprocal""" HP:HP:0006688(Paroxysmal tachycardia) +PA445809 Tachycardia, Supraventricular """SVT - Supraventricular tachycardia"", ""Supraventricular Tachycardia"", ""Supraventricular Tachycardias"", ""Supraventricular tachycardia NOS"", ""Tachycardias, Supraventricular""" """MeSH:D013617(Tachycardia, Supraventricular)"", ""SnoMedCT:195104006(Supraventricular tachycardia NOS)"", ""SnoMedCT:6456007(Supraventricular tachycardia)"", ""UMLS:C0039240(C0039240)"", ""MedDRA:10042604(Supraventricular tachycardia)"", ""NDFRT:N0000002895(Tachycardia, Supraventricular [Disease/Finding])"", ""HP:HP:0004755(Supraventricular tachycardia)""" +PA446450 Tachycardia, Ventricular """Tachycardias, Ventricular"", ""VT - Ventricular tachycardia"", ""Ventricular Tachycardia"", ""Ventricular Tachycardias"", ""Ventricular tachyarrhythmia"", ""Ventricular tachycardia"", ""Ventricular tachycardia, NOS""" """MeSH:D017180(Tachycardia, Ventricular)"", ""SnoMedCT:25569003(Ventricular tachycardia)"", ""UMLS:C0042514(C0042514)"", ""MedDRA:10043085(Tachycardia ventricular)"", ""NDFRT:N0000003541(Tachycardia, Ventricular [Disease/Finding])"", ""MONDO:MONDO:0005477(ventricular tachycardia)"", ""HP:HP:0004756(Ventricular tachycardia)""" +PA447268 Tardive Dyskinesia Drug-induced tardive dyskinesia, TD - Tardive dyskinesia MeSH:D000071057(Tardive Dyskinesia), SnoMedCT:102449007(Tardive dyskinesia), UMLS:C0686347(C0686347), MedDRA:10013928(Dyskinesia tardive), MONDO:MONDO:0010096(tardive dyskinesia), HP:HP:0040141(Tardive dyskinesia) +PA445817 Telangiectasis Telangiectases, Telangiectasia, Telangiectasias MeSH:D013684(Telangiectasis), SnoMedCT:112641009(Telangiectasis), SnoMedCT:247479008(Telangiectasia disorder), SnoMedCT:276328002(Telangiectasia), UMLS:C0039446(C0039446), MedDRA:10043189(Telangiectasia), NDFRT:N0000002903(Telangiectasis [Disease/Finding]), MONDO:MONDO:0001576(telangiectasis) +PA444071 Temporal lobe epilepsy """Benign Psychomotor Epilepsy, Childhood"", ""Childhood Benign Psychomotor Epilepsy"", ""Epilepsies, Lateral Temporal"", ""Epilepsies, Temporal Lobe"", ""Epilepsies, Uncinate"", ""Epilepsy, Benign Psychomotor, Childhood"", ""Epilepsy, Lateral Temporal"", ""Epilepsy, Uncinate"", ""Lateral Temporal Epilepsies"", ""Lateral Temporal Epilepsy"", ""Psychomotor seizure"", ""TLE - Temporal lobe epilepsy"", ""Temporal Lobe Epilepsies"", ""Temporal Lobe Epilepsy"", ""Temporal lobe epilepsy"", ""Uncinate Epilepsies"", ""Uncinate Epilepsy""" """MeSH:D004833(Epilepsy, Temporal Lobe)"", ""SnoMedCT:193000002(Temporal lobe epilepsy)"", ""UMLS:C0014556(C0014556)"", ""MedDRA:10010913(Convulsion psychomotor)"", ""NDFRT:N0000001132(Epilepsy, Temporal Lobe [Disease/Finding])"", ""MONDO:MONDO:0005115(temporal lobe epilepsy)""" +PA445819 Temporomandibular Joint Disorder """Disease, TMJ"", ""Disease, Temporomandibular Joint"", ""Diseases, TMJ"", ""Diseases, Temporomandibular Joint"", ""Disorder, TMJ"", ""Disorder, Temporomandibular"", ""Disorder, Temporomandibular Joint"", ""Disorders, TMJ"", ""Disorders, Temporomandibular"", ""Disorders, Temporomandibular Joint"", ""Joint Disease, Temporomandibular"", ""Joint Diseases, Temporomandibular"", ""Joint Disorder, Temporomandibular"", ""Joint Disorders, Temporomandibular"", ""TMJ - Temporomandibular joint disorder"", ""TMJ Disease"", ""TMJ Diseases"", ""TMJ Disorder"", ""TMJ Disorders"", ""Temporomandibular Disorder"", ""Temporomandibular Disorders"", ""Temporomandibular Joint Disease"", ""Temporomandibular Joint Diseases"", ""Temporomandibular Joint Disorder"", ""Temporomandibular joint disorder"", ""Temporomandibular joint disorder NOS"", ""Temporomandibular joint disorder, NOS"", ""Temporomandibular joint syndrome"", ""Temporomandibular joint syndrome, NOS""" MeSH:D013705(Temporomandibular Joint Disorders), SnoMedCT:196434003(Temporomandibular joint disorder NOS), SnoMedCT:41888000(Temporomandibular joint disorder), UMLS:C0039494(C0039494), MedDRA:10043216(Temporomandibular joint disorder), NDFRT:N0000002905(Temporomandibular Joint Disorders [Disease/Finding]), MONDO:MONDO:0005473(temporomandibular joint disorder) +PA165108308 Temporomandibular joint dysfunction syndrome Costen's complex, Costen's syndrome, Mandibular dysfunction, Myofascial pain - dysfunction syndrome of TMJ, Snapping jaw, TMJ syndrome, TMJPDS - Temporomandibular joint pain dysfunction syndrome MeSH:D013706(Temporomandibular Joint Dysfunction Syndrome), SnoMedCT:386207004(Temporomandibular joint-pain-dysfunction syndrome), UMLS:C0039496(C0039496), MedDRA:10043206(Tempo mandibular joint dysfunc), NDFRT:N0000002906(Temporomandibular Joint Dysfunction Syndrome [Disease/Finding]), MONDO:MONDO:0021895(temporomandibular joint dysfunction syndrome) +PA445821 Tendinopathy Tendinitides, Tendinitis, Tendonitides, Tendonitis MeSH:D052256(Tendinopathy), UMLS:C1568272(Tendinopathy [Disease/Finding]), NDFRT:N0000171698(Tendinopathy [Disease/Finding]), MONDO:MONDO:0100010(disease of the tendon) +PA446764 Tension-Type Headache """Headache, Psychogenic"", ""Headache, Stress"", ""Headache, Tension"", ""Headache, Tension-Type"", ""Headache, Tension-Vascular"", ""Headaches, Psychogenic"", ""Headaches, Stress"", ""Headaches, Tension"", ""Headaches, Tension-Type"", ""Headaches, Tension-Vascular"", ""Psychogenic Headache"", ""Psychogenic Headaches"", ""Stress Headache"", ""Stress Headaches"", ""Stress headache"", ""Tension Headache"", ""Tension Headaches"", ""Tension Type Headache"", ""Tension Vascular Headache"", ""Tension headache"", ""Tension-Type Headache"", ""Tension-Type Headaches"", ""Tension-Vascular Headache"", ""Tension-Vascular Headaches"", ""Tension-type headache""" MeSH:D018781(Tension-Type Headache), SnoMedCT:398057008(Tension-type headache), SnoMedCT:66551002(Psychogenic headache), UMLS:C0033893(C0033893), MedDRA:10019226(Headache tension), NDFRT:N0000171633(Tension-Type Headache [Disease/Finding]), HP:HP:0012228(Tension-type headache) +PA445825 Teratoma """Cystic Teratoma"", ""Cystic Teratomas"", ""Dysembryoma"", ""Dysembryomas"", ""Mature Teratoma"", ""Mature Teratomas"", ""Teratoid Tumor"", ""Teratoid Tumors"", ""Teratoma, Cystic"", ""Teratoma, Mature"", ""Teratomas"", ""Teratomas, Cystic"", ""Teratomas, Mature"", ""Tumor, Teratoid"", ""Tumors, Teratoid""" """MeSH:D013724(Teratoma)"", ""SnoMedCT:55818009(Teratoma, no ICD-O subtype)"", ""UMLS:C0039538(C0039538)"", ""MedDRA:10043276(Teratoma)"", ""NDFRT:N0000002911(Teratoma [Disease/Finding])"", ""MONDO:MONDO:0002601(teratoma)"", ""MONDO:MONDO:0019500(extragonadal teratoma)"", ""HP:HP:0009792(Teratoma)""" +PA445826 Testicular Diseases """Disease, Testicular"", ""Diseases, Testicular"", ""Disorder of testis"", ""Testicular Disease""" MeSH:D013733(Testicular Diseases), SnoMedCT:64910008(Disorder of testis), UMLS:C0039584(C0039584), MedDRA:10013273(Disorder testicle), NDFRT:N0000002912(Testicular Diseases [Disease/Finding]), MONDO:MONDO:0002329(testicular disorder) +PA445828 Testicular Neoplasms """Cancer of Testis"", ""Cancer of the Testis"", ""Cancer, Testicular"", ""Cancer, Testis"", ""Cancers, Testicular"", ""Cancers, Testis"", ""Neoplasm of testis"", ""Neoplasm, Testicular"", ""Neoplasm, Testis"", ""Neoplasms, Testicular"", ""Neoplasms, Testis"", ""Rete Cell Tumor"", ""Rete Cell Tumors"", ""Testicular Cancer"", ""Testicular Cancers"", ""Testicular Neoplasm"", ""Testis Cancer"", ""Testis Cancers"", ""Testis Neoplasm"", ""Testis Neoplasms"", ""Tumor of testis"", ""Tumor, Rete Cell"", ""Tumors, Rete Cell"", ""Tumour of testis""" MeSH:D013736(Testicular Neoplasms), SnoMedCT:126900000(Neoplasm of testis), UMLS:C0039590(C0039590), MedDRA:10061379(Testicular neoplasm), NDFRT:N0000002914(Testicular Neoplasms [Disease/Finding]), MONDO:MONDO:0005447(testicular cancer) +PA445829 Tetanus Tetanus with trismus MONDO:MONDO:0005526(tetanus) +PA166048764 Tetany NDFRT:N0000002916(Tetany), HP:HP:0001281(Tetany) +PA445831 Tetralogy of Fallot """Fallot Tetralogy"", ""Fallot's Tetralogy"", ""Fallot's tetralogy"", ""Fallots Tetralogy"", ""Subpulmonic stenosis, ventricular septal defect, overriding aorta, AND right ventricular hypertrophy"", ""Tetralogy of Fallot NOS"", ""Tetralogy of Fallot, unspecified"", ""Tetralogy, Fallot"", ""Tetralogy, Fallot's"", ""Tetralogy, Fallots""" """MeSH:D013771(Tetralogy of Fallot)"", ""SnoMedCT:204307003(Tetralogy of Fallot NOS)"", ""SnoMedCT:268177006(Tetralogy of Fallot, unspecified)"", ""SnoMedCT:86299006(Tetralogy of Fallot)"", ""UMLS:C0039685(C0039685)"", ""MedDRA:10016191(Fallot tetralogy)"", ""NDFRT:N0000002917(Tetralogy of Fallot [Disease/Finding])"", ""MONDO:MONDO:0008542(tetralogy of fallot)"", ""HP:HP:0001636(Tetralogy of Fallot)""" +PA165108162 Therapeutic abortion """MeSH:D000032(Abortion, Therapeutic)"", ""SnoMedCT:53638009(Therapeutic abortion)"", ""UMLS:C0000820(C0000820)"", ""MedDRA:10027090(Medically induced abortion)"", ""cpgxTags:pgkbTags:1452102240(Maternal Health)"", ""HP:HP:0030449(Therapeutic abortion)""" +PA166331821 therapeutic drug monitoring analyses """MeSH:D016903(Drug Monitoring)"", ""SnoMedCT:77667008(Therapeutic drug monitoring, qualitative)"", ""MedDRA:10043411(Therapeutic drug monitoring analyses)""" +PA447322 Therapy-related acute myeloid leukemia (t-AML) Treatment related acute myeloid leukemia, therapy-related myeloid leukemia (t-ML) MedDRA:10066353(Treatment related acute myeloid leukemia) +PA445837 Thiamine Deficiency """Aneurin deficiency"", ""Deficiencies, Thiamine"", ""Deficiency, Thiamine"", ""Thiamin deficiency"", ""Thiamine Deficiencies"", ""Thiamine deficiency"", ""Vitamin B1 deficiency""" MeSH:D013832(Thiamine Deficiency), SnoMedCT:399357009(Thiamin deficiency), UMLS:C0039841(C0039841), MedDRA:10047601(Vitamin B1 deficiency), NDFRT:N0000002923(Thiamine Deficiency [Disease/Finding]), MONDO:MONDO:0006676(beriberi) +PA445846 Thrombocytopenia Platelet count below reference range, Thrombocytopenia NOS, Thrombocytopenias, Thrombocytopenic disorder, Thrombopenia, Thrombopenias MeSH:D013921(Thrombocytopenia), SnoMedCT:191326009(Thrombocytopenia NOS), SnoMedCT:302215000(Thrombocytopenic disorder), SnoMedCT:415116008(Platelet count below reference range), UMLS:C0040034(C0040034), MedDRA:10043551(Thrombocytopaenia), NDFRT:N0000002932(Thrombocytopenia [Disease/Finding]), MONDO:MONDO:0002049(thrombocytopenia), HP:HP:0001873(Thrombocytopenia) +PA445847 Thrombocytosis Increased platelets, Platelet count above reference range, Thrombocythemia, Thrombocythemias, Thrombocytoses MeSH:D013922(Thrombocytosis), SnoMedCT:415115007(Platelet count above reference range), SnoMedCT:6631009(Thrombocytosis), UMLS:C0836924(C0836924), MedDRA:10021674(Increased platelets), NDFRT:N0000002933(Thrombocytosis [Disease/Finding]), MONDO:MONDO:0002249(thrombocytosis disease), HP:HP:0001894(Thrombocytosis) +PA445848 Thromboembolism Thromboembolic disease, Thromboembolic disorder, Thromboembolism - lesion, Thromboembolisms, Thromboembolus MeSH:D013923(Thromboembolism), SnoMedCT:13713005(Thromboembolus), SnoMedCT:371039008(Thromboembolic disorder), UMLS:C0040038(C0040038), MedDRA:10014511(Embolism and thrombosis of unspecified site), NDFRT:N0000002934(Thromboembolism [Disease/Finding]), HP:HP:0001907(Thromboembolism) +PA446870 Thrombophilia Hypercoagulabilities, Hypercoagulability, Hypercoagulability state, Hypercoagulable state, Thrombophilias MeSH:D019851(Thrombophilia), SnoMedCT:234467004(Thrombophilia), SnoMedCT:76612001(Hypercoagulability state), UMLS:C0398623(C0398623), MedDRA:10057396(Thrombophilia), NDFRT:N0000003961(Thrombophilia [Disease/Finding]), MONDO:MONDO:0002305(thrombophilia) +PA445850 Thrombotic disease Blood vessel thrombosis, Thromboses, Thrombotic disorder, Thrombus MeSH:D013927(Thrombosis), SnoMedCT:118927008(Thrombotic disorder), SnoMedCT:264579008(Thrombosis), SnoMedCT:439127006(Thrombosis), UMLS:C0040053(C0040053), MedDRA:10043607(Thrombosis), NDFRT:N0000002936(Thrombosis [Disease/Finding]), MONDO:MONDO:0000831(thrombotic disease) +PA445481 Thrombotic thrombocytopenic purpura """Disease, Moschkowitz"", ""Moschcowitz syndrome"", ""Moschkowitz Disease"", ""Purpura, Thrombotic Thrombopenic"", ""Thrombocytopenic Purpura, Thrombotic"", ""Thrombopenic Purpura, Thrombotic"", ""Thrombotic Thrombocytopenic Purpura"", ""Thrombotic Thrombopenic Purpura"", ""Thrombotic microangiopathy""" """MeSH:D011697(Purpura, Thrombotic Thrombocytopenic)"", ""SnoMedCT:126729006(Thrombotic microangiopathy)"", ""SnoMedCT:195360005(Thrombotic microangiopathy NOS)"", ""SnoMedCT:78129009(Thrombotic thrombocytopenic purpura)"", ""UMLS:C0034155(C0034155)"", ""MedDRA:10037562(Purpura thrombopaenic thrombotic)"", ""NDFRT:N0000002557(Purpura, Thrombotic Thrombocytopenic [Disease/Finding])"", ""MONDO:MONDO:0018896(thrombotic thrombocytopenic purpura)""" +PA445851 Thymoma """Carcinoma, Thymic"", ""Carcinomas, Thymic"", ""Thymic Carcinoma"", ""Thymic Carcinomas"", ""Thymomas""" MeSH:D013945(Thymoma), SnoMedCT:128856005(Thymoma), UMLS:C0040100(C0040100), MedDRA:10043670(Thymoma), NDFRT:N0000002937(Thymoma [Disease/Finding]), MONDO:MONDO:0006456(thymoma), HP:HP:0100522(Thymoma) +PA166048802 Thyroid Crisis NDFRT:N0000002941(Thyroid Crisis), MONDO:MONDO:0006996(thyroid crisis), HP:HP:0011782(Thyroid crisis) +PA445858 Thyroiditis Thyroiditides, Thyroiditis NOS MeSH:D013966(Thyroiditis), SnoMedCT:190301009(Thyroiditis NOS), SnoMedCT:82119001(Thyroiditis), UMLS:C0040147(C0040147), MedDRA:10043778(Thyroiditis), NDFRT:N0000002944(Thyroiditis [Disease/Finding]), MONDO:MONDO:0004126(thyroiditis), HP:HP:0100646(Thyroiditis) +PA445857 Thyroid tumor """Cancer of Thyroid"", ""Cancer of the Thyroid"", ""Cancer, Thyroid"", ""Cancers, Thyroid"", ""Neoplasm of thyroid gland"", ""Neoplasm, Thyroid"", ""Neoplasms, Thyroid"", ""Thyroid Cancer"", ""Thyroid Cancers"", ""Thyroid Neoplasm"", ""Thyroid tumor"", ""Tumour of thyroid gland""" MeSH:D013964(Thyroid Neoplasms), SnoMedCT:127018007(Neoplasm of thyroid gland), UMLS:C0040136(C0040136), MedDRA:10029099(Neoplasm thyroid), NDFRT:N0000002943(Thyroid Neoplasms [Disease/Finding]), MONDO:MONDO:0015074(thyroid tumor), MONDO:MONDO:0021217(thyroid tumor) +PA445862 Thyrotoxicosis Thyrotoxicoses, Thyrotoxicosis NOS, Thyrotoxicosis with or without goitre MeSH:D013971(Thyrotoxicosis), SnoMedCT:190267008(Thyrotoxicosis NOS), SnoMedCT:286909009(Thyrotoxicosis with or without goitre), SnoMedCT:90739004(Thyrotoxicosis), UMLS:C0040156(C0040156), MedDRA:10043789(Thyrotoxicosis), NDFRT:N0000002948(Thyrotoxicosis [Disease/Finding]), MONDO:MONDO:0010138(thyrotoxicosis) +PA445864 Tic Disorders """Childhood Tic Disorder"", ""Childhood Tic Disorders"", ""Chronic Motor or Vocal Tic Disorder"", ""Habit spasm"", ""Motor Tic Disorder"", ""Motor Tic Disorders"", ""Motor or Vocal Tic Disorder, Chronic"", ""Post Traumatic Tic Disorder"", ""Post-Traumatic Tic Disorder"", ""Post-Traumatic Tic Disorders"", ""Tic"", ""Tic Disorder"", ""Tic Disorder, Childhood"", ""Tic Disorder, Chronic Motor or Vocal"", ""Tic Disorder, Motor"", ""Tic Disorder, Post Traumatic"", ""Tic Disorder, Post-Traumatic"", ""Tic Disorder, Transient"", ""Tic Disorder, Vocal"", ""Tic Disorders, Childhood"", ""Tic Disorders, Motor"", ""Tic Disorders, Post-Traumatic"", ""Tic Disorders, Transient"", ""Tic Disorders, Vocal"", ""Tic disorder unspecified"", ""Tics"", ""Transient Tic Disorder"", ""Transient Tic Disorders"", ""Vocal Tic Disorder"", ""Vocal Tic Disorders""" MeSH:D013981(Tic Disorders), SnoMedCT:191989005(Tic disorder unspecified), SnoMedCT:191991002(Tic NOS), SnoMedCT:386783003(Tic), SnoMedCT:568005(Tic disorder), UMLS:C0040188(C0040188), MedDRA:10043833(Tic), NDFRT:N0000002950(Tic Disorders [Disease/Finding]), MONDO:MONDO:0002420(tic disorder) +PA447002 Tics """Chorea, Habit"", ""Choreas, Habit"", ""Gestural Tic"", ""Gestural Tics"", ""Habit Chorea"", ""Habit Choreas"", ""Habit Spasm"", ""Habit Spasms"", ""Habit tic"", ""Habituation Spasm"", ""Habituation Spasms"", ""Motor Tic"", ""Motor Tics"", ""Spasm, Habit"", ""Spasm, Habituation"", ""Spasms, Habit"", ""Spasms, Habituation"", ""Tic"", ""Tic, Gestural"", ""Tic, Motor"", ""Tic, Transient"", ""Tic, Vocal"", ""Tics, Gestural"", ""Tics, Motor"", ""Tics, Transient"", ""Tics, Vocal"", ""Transient Tic"", ""Transient Tics"", ""Vocal Tic"", ""Vocal Tics""" MeSH:D020323(Tics), SnoMedCT:402732001(Habit tic), UMLS:C0278076(C0278076), MedDRA:10043849(Tics), NDFRT:N0000004108(Tics [Disease/Finding]), HP:HP:0100033(Tics) +PA166129534 time above therapeutic range +PA166129562 time below therapeutic range +PA166129531 time in therapeutic range +PA166129530 time to achieve stable dose +PA166129532 time to therapeutic inr +PA166048748 Tinea NDFRT:N0000002955(Tinea), MONDO:MONDO:0005982(tinea infection) +PA166048825 Tinea Capitis NDFRT:N0000002956(Tinea Capitis), MONDO:MONDO:0002967(dermatophytosis of scalp or beard) +PA166048747 Tinea Pedis NDFRT:N0000002958(Tinea Pedis), MONDO:MONDO:0005984(tinea pedis) +PA445875 Tinnitus """Clicking Tinnitus"", ""Induced Tinnitus, Noise"", ""Leudet Tinnitus"", ""Leudet's Tinnitus"", ""Noise Induced Tinnitus"", ""Noises in ear"", ""Noises in head"", ""Objective Tinnitus"", ""Pulsatile Tinnitus"", ""Ringing Buzzing Tinnitus"", ""Ringing-Buzzing-Tinnitus"", ""Spontaneous Oto-Acoustic Emission Tinnitus"", ""Subjective Tinnitus"", ""Tensor Palatini Induced Tinnitus"", ""Tensor Tympani Induced Tinnitus"", ""Tinnitus of Vascular Origin"", ""Tinnitus, Clicking"", ""Tinnitus, Leudet"", ""Tinnitus, Leudet's"", ""Tinnitus, Leudets"", ""Tinnitus, Noise Induced"", ""Tinnitus, Objective"", ""Tinnitus, Pulsatile"", ""Tinnitus, Spontaneous Oto Acoustic Emission"", ""Tinnitus, Spontaneous Oto-Acoustic Emission"", ""Tinnitus, Subjective"", ""Tinnitus, Tensor Palatini Induced"", ""Tinnitus, Tensor Tympani Induced"", ""Tinnitus, Vascular Origin"", ""Unspecified tinnitus"", ""Vascular Origin Tinnitus""" MeSH:D014012(Tinnitus), SnoMedCT:162349004(Noises in ear), SnoMedCT:162352007(Ringing in ear), SnoMedCT:162355009(Tinnitus symptom NOS), SnoMedCT:194393005(Unspecified tinnitus), SnoMedCT:194395003(Tinnitus NOS), SnoMedCT:60862001(Tinnitus), UMLS:C0040264(C0040264), MedDRA:10014018(Ear noises), NDFRT:N0000002961(Tinnitus [Disease/Finding]), HP:HP:0000360(Tinnitus) +PA445876 Tobacco Use Disorder """Dependence, Nicotine"", ""Dependence, Tobacco"", ""Disorder, Nicotine Use"", ""Disorder, Tobacco Use"", ""Disorder, Tobacco-Use"", ""Nicotine Dependence"", ""Nicotine Use Disorder"", ""Nicotine Use Disorders"", ""Tobacco Dependence"", ""Tobacco Dependences"", ""Tobacco Use Disorder"", ""Tobacco Use Disorders"", ""Tobacco-Use Disorder"", ""Use Disorder, Nicotine"", ""nicotine addiction"", ""nicotine dependency""" MeSH:D014029(Tobacco Use Disorder), UMLS:C0040336(Tobacco use disorder), MedDRA:10043906(Tobacco use disorder), NDFRT:N0000002962(Tobacco Use Disorder [Disease/Finding]), MONDO:MONDO:0008575(nicotine dependence) +PA166169457 tonsillectomy MedDRA:10044006(Tonsillectomy) +PA445883 Tonsillitis Tonsillitides MONDO:MONDO:0001039(tonsillitis) +PA166048870 Toothache NDFRT:N0000002984(Toothache) +PA164924611 Tooth agenesis Hypodontia, Oligodontia, Partial congenital absence of teeth SnoMedCT:64969001(Partial congenital absence of teeth), UMLS:C0020608(C0020608), MedDRA:10055001(Hypodontia), MONDO:MONDO:0005486(tooth agenesis) +PA445887 Tooth disorder """Dental disease"", ""Dental disorder"", ""Disease, Tooth"", ""Diseases, Tooth"", ""Tooth Disease"", ""Tooth disease"", ""Tooth disorder""" MeSH:D014076(Tooth Diseases), SnoMedCT:234947003(Tooth disorder), UMLS:C0040435(C0040435), MedDRA:10013276(Disorder tooth), NDFRT:N0000002973(Tooth Diseases [Disease/Finding]), MONDO:MONDO:0006999(tooth disorder) +PA446294 Torsades de Pointes """Pointe, Torsade de"", ""Pointe, Torsades de"", ""Pointes, Torsade de"", ""Pointes, Torsades de"", ""Torsade de Pointe"", ""Torsade de Pointes"", ""Torsade de pointes"", ""Torsades de Pointe"", ""Torsades de pointes"", ""Ventricular tachycardia, polymorphic with Q-T prolongation"", ""de Pointe, Torsade"", ""de Pointe, Torsades"", ""de Pointes, Torsade"", ""de Pointes, Torsades""" MeSH:D016171(Torsades de Pointes), SnoMedCT:31722008(Torsades de pointes), UMLS:C0040479(C0040479), MedDRA:10053604(TdP ventricular tachycardia), NDFRT:N0000003383(Torsades de Pointes [Disease/Finding]), MONDO:MONDO:0005478(torsades de pointes) +PA445900 Torticollis """Cervical Dystonia"", ""Intermittent Torticollis"", ""Psychogenic Torticollis"", ""Spasmodic Torticollis"", ""Torticollis, Intermittent"", ""Torticollis, Psychogenic"", ""Torticollis, Spasmodic"", ""Wryneck""" MeSH:D014103(Torticollis), SnoMedCT:267978004(Torticollis unspecified), SnoMedCT:267979007(Torticollis NOS), SnoMedCT:270476009(Wry neck/torticollis), SnoMedCT:70070008(Torticollis), UMLS:C0040485(C0040485), MedDRA:10058980(Retrocollis), NDFRT:N0000002986(Torticollis [Disease/Finding]), HP:HP:0000473(Torticollis) +PA444270 Tourette Syndrome """Combined Multiple Motor and Vocal Tic Disorder"", ""Combined Vocal and Multiple Motor Tic Disorder"", ""Combined vocal and multiple motor tic disorder"", ""Gilles de la Tourette Syndrome"", ""Gilles de la Tourette's Disease"", ""Multiple Motor and Vocal Tic Disorder, Combined"", ""Syndrome, Tourette's"", ""Tic Disorder, Combined Vocal and Multiple Motor"", ""Tourette Disease"", ""Tourette Disorder"", ""Tourette's Disease"", ""Tourette's Disorder"", ""Tourette's Syndrome"", ""Tourette's disorder"", ""Tourette's syndrome"", ""Tourettes Disease"", ""Tourettes Disorder"", ""Tourettes Syndrome""" MeSH:D005879(Tourette Syndrome), SnoMedCT:5158005(Gilles de la Tourette's syndrome), UMLS:C0040517(C0040517), MedDRA:10006370(Brissaud's II), NDFRT:N0000001334(Tourette Syndrome [Disease/Finding]), MONDO:MONDO:0007661(Tourette syndrome) +PA444059 Toxic Epidermal Necrolysis """Epidermal Necrolyses, Toxic"", ""Lyell Syndrome"", ""Lyell's Syndrome"", ""Lyell's syndrome"", ""Lyells Syndrome"", ""Necrolyses, Toxic Epidermal"", ""Necrolysis, Toxic Epidermal"", ""Nonstaphylococcal Scalded Skin Syndrome"", ""Scalded Skin Syndrome, Nonstaphylococcal"", ""Syndrome, Lyell's"", ""TEN - Toxic epidermal necrolysis"", ""Toxic Epidermal Necrolyses"", ""Toxic Epidermal Necrolysis"", ""Toxic epidermal necrolysis""" """MeSH:D013262(Stevens-Johnson Syndrome)"", ""SnoMedCT:23067006(Lyell's toxic epidermal necrolysis, subepidermal type)"", ""UMLS:C0014518(C0014518)"", ""MedDRA:10025165(Lyell)"", ""NDFRT:N0000001121(Epidermal Necrolysis, Toxic [Disease/Finding])"", ""MONDO:MONDO:0019810(toxic epidermal necrolysis)""" +PA164925725 Toxic liver disease """Hepatitis, Toxic"", ""hepatotoxicity"", ""liver toxicity"", ""toxic hepatitis""" SnoMedCT:197354009(Toxic liver disease), UMLS:C0348754(C0348754) +PA166048835 Toxocariasis NDFRT:N0000002988(Toxocariasis), MONDO:MONDO:0005988(toxocariasis) +PA165108216 Toxoplasma encephalitis Cerebral toxoplasmosis, TE - Toxoplasma encephalitis, Toxoplasma meningoencephalitis, Toxoplasmosis encephalitis, Toxoplasmosis of brain MONDO:MONDO:0005697(cerebral toxoplasmosis) +PA445903 Toxoplasmosis """Infection, Toxoplasma gondii"", ""Infections, Toxoplasma gondii"", ""Toxoplasma gondii Infection"", ""Toxoplasma gondii Infections"", ""Toxoplasmoses""" MeSH:D014123(Toxoplasmosis), SnoMedCT:187192000(Toxoplasmosis), SnoMedCT:187200007(Toxoplasmosis NOS), UMLS:C0040558(C0040558), MedDRA:10054155(Toxoplasma gondii infection), NDFRT:N0000002989(Toxoplasmosis [Disease/Finding]), MONDO:MONDO:0005989(toxoplasmosis) +PA445913 Trachoma """Trachoma, NOS"", ""Trachomas""" MeSH:D014141(Trachoma), SnoMedCT:186672003(Unspecified trachoma), SnoMedCT:2576002(Trachoma), UMLS:C0040592(C0040592), MedDRA:10044325(Trachoma), NDFRT:N0000002999(Trachoma [Disease/Finding]), MONDO:MONDO:0001249(trachoma) +PA443672 Transient Ischemic Attack """Anterior Circulation Transient Ischemic Attack"", ""Attack, Transient Ischemic"", ""Attacks, Transient Ischemic"", ""Brain Stem Ischemia, Transient"", ""Brain Stem Transient Ischemic Attack"", ""Brain TIA"", ""Brainstem Ischemia, Transient"", ""Brainstem Ischemias, Transient"", ""Brainstem Transient Ischemic Attack"", ""Carotid Circulation Transient Ischemic Attack"", ""Cerebral Ischemia, Transient"", ""Cerebral Ischemias, Transient"", ""Crescendo Transient Ischemic Attacks"", ""Intermittent cerebral ischaemia"", ""Intermittent cerebral ischemia"", ""Ischemia, Transient Brainstem"", ""Ischemia, Transient Cerebral"", ""Ischemias, Transient Brainstem"", ""Ischemias, Transient Cerebral"", ""Ischemic Attacks, Transient"", ""Posterior Circulation Transient Ischemic Attack"", ""TIA"", ""TIA (Transient Ischemic Attack)"", ""TIA - Transient ischaemic attack"", ""TIA, Brain"", ""TIAs (Transient Ischemic Attack)"", ""Temporary cerebral vascular dysfunction"", ""Transient Brainstem Ischemia"", ""Transient Cerebral Ischemia"", ""Transient Cerebral Ischemias"", ""Transient Ischemic Attack"", ""Transient Ischemic Attack, Anterior Circulation"", ""Transient Ischemic Attack, Brain Stem"", ""Transient Ischemic Attack, Brainstem"", ""Transient Ischemic Attack, Carotid Circulation"", ""Transient Ischemic Attack, Posterior Circulation"", ""Transient Ischemic Attack, Vertebrobasilar Circulation"", ""Transient Ischemic Attacks"", ""Transient Ischemic Attacks, Crescendo"", ""Transient cerebral ischaemia"", ""Transient cerebral ischemia"", ""Transient ischaemic attack"", ""Transient ischemic attack"", ""Vertebrobasilar Circulation Transient Ischemic Attack""" """MeSH:D002546(Ischemic Attack, Transient)"", ""SnoMedCT:266257000(Transient cerebral ischaemia)"", ""UMLS:C0007787(C0007787)"", ""MedDRA:10043821(TIA)"", ""NDFRT:N0000000724(Ischemic Attack, Transient [Disease/Finding])"", ""MONDO:MONDO:0005264(transient ischemic attack)"", ""HP:HP:0002326(Transient ischemic attack)""" +PA162168973 Transient Neonatal Diabetes """MeSH:C563672(Diabetes Mellitus, Transient Neonatal, 2)"", ""MONDO:MONDO:0012480(diabetes mellitus, transient neonatal, 2)"", ""MONDO:MONDO:0020525(transient neonatal diabetes mellitus)""" +PA443627 Transitional cell carcinoma """Carcinomas, Transitional Cell"", ""Cell Carcinoma, Transitional"", ""Cell Carcinomas, Transitional"", ""TCC - Transitional cell carcinoma"", ""Transitional Cell Carcinoma"", ""Transitional Cell Carcinomas"", ""Transitional carcinoma"", ""Transitional cell carcinoma"", ""Urothelial carcinoma""" """MeSH:D002295(Carcinoma, Transitional Cell)"", ""SnoMedCT:27090000(Transitional cell carcinoma)"", ""UMLS:C0007138(C0007138)"", ""MedDRA:10007477(Carcinoma transitional cell)"", ""NDFRT:N0000000681(Carcinoma, Transitional Cell [Disease/Finding])"", ""MONDO:MONDO:0006474(transitional cell carcinoma)""" +PA134850491 Transplantation """Grafting, NOS"", ""Transplant procedure"", ""Transplantation - action"", ""Tx - Transplant""" MeSH:D014180(Transplantation), SnoMedCT:129406001(Transplantation - action), SnoMedCT:263903005(Transplant), SnoMedCT:77465005(Transplantation), UMLS:C0040732(C0040732), MedDRA:10057677(Transplant) +PA166114454 Transplant rejection Allograft rejection, Graft rejection MeSH:D006084(Graft Rejection), MedDRA:10044439(Transplant rejection) +PA166128095 Treatment failure """Failure, Treatment"", ""Failures, Treatment"", ""Treatment Failures""" MeSH:D017211(Treatment Failure), MedDRA:10066901(Treatment failure) +PA166159284 Treatment interruption Interruption, Planned Treatment MeSH:D000097042(Treatment Interruption) +PA166124372 Treatment modification SnoMedCT:371133007(Treatment modification) +PA445917 Tremor """Action Tremor"", ""Action Tremors"", ""Coarse Tremor"", ""Coarse Tremors"", ""Continuous Tremor"", ""Continuous Tremors"", ""Darkness Tremor"", ""Darkness Tremors"", ""Fine Tremor"", ""Fine Tremors"", ""Has a tremor"", ""Intention Tremor"", ""Intention Tremors"", ""Intermittent Tremor"", ""Intermittent Tremors"", ""Involuntary Quiver"", ""Involuntary Quivers"", ""Involuntary quiver"", ""Limb Tremor"", ""Limb Tremors"", ""Massive Tremor"", ""Massive Tremors"", ""Muscle Tremor"", ""Muscle Tremors"", ""Neonatal Tremor"", ""Neonatal Tremors"", ""Nerve Tremor"", ""Nerve Tremors"", ""Passive Tremor"", ""Passive Tremors"", ""Perioral Tremor"", ""Perioral Tremors"", ""Persistent Tremor"", ""Persistent Tremors"", ""Pill Rolling Tremor"", ""Pill Rolling Tremors"", ""Quiver, Involuntary"", ""Quivering"", ""Quivers, Involuntary"", ""Rest Tremor"", ""Rest Tremors"", ""Resting Tremor"", ""Resting Tremors"", ""Rolling Tremor, Pill"", ""Rolling Tremors, Pill"", ""Saturnine Tremor"", ""Saturnine Tremors"", ""Semirhythmic Tremor"", ""Semirhythmic Tremors"", ""Senile Tremor"", ""Senile Tremors"", ""Shakes"", ""Shaking"", ""Shaking all over"", ""Static Tremor"", ""Static Tremors"", ""The shakes"", ""Trembling"", ""Tremor [D]"", ""Tremor, Action"", ""Tremor, Coarse"", ""Tremor, Continuous"", ""Tremor, Darkness"", ""Tremor, Fine"", ""Tremor, Intention"", ""Tremor, Intermittent"", ""Tremor, Limb"", ""Tremor, Massive"", ""Tremor, Muscle"", ""Tremor, Neonatal"", ""Tremor, Nerve"", ""Tremor, Passive"", ""Tremor, Perioral"", ""Tremor, Persistent"", ""Tremor, Pill Rolling"", ""Tremor, Rest"", ""Tremor, Resting"", ""Tremor, Saturnine"", ""Tremor, Semirhythmic"", ""Tremor, Senile"", ""Tremor, Static"", ""Tremors"", ""Tremors, Action"", ""Tremors, Coarse"", ""Tremors, Continuous"", ""Tremors, Darkness"", ""Tremors, Fine"", ""Tremors, Intention"", ""Tremors, Intermittent"", ""Tremors, Limb"", ""Tremors, Massive"", ""Tremors, Muscle"", ""Tremors, Neonatal"", ""Tremors, Nerve"", ""Tremors, Passive"", ""Tremors, Perioral"", ""Tremors, Persistent"", ""Tremors, Pill Rolling"", ""Tremors, Rest"", ""Tremors, Resting"", ""Tremors, Saturnine"", ""Tremors, Semirhythmic"", ""Tremors, Senile"", ""Tremors, Static"", ""[D]Tremor""" MeSH:D014202(Tremor), SnoMedCT:26079004(Tremor), SnoMedCT:274239004([D]Tremor), UMLS:C0040822(C0040822), MedDRA:10040528(Shaking), NDFRT:N0000003005(Tremor [Disease/Finding]), HP:HP:0001337(Tremor) +PA445920 Trichinosis Infection by larvae of Trichinella spiralis, Trichinelliases, Trichinelliasis, Trichinellosis, Trichiniasis, Trichinoses MeSH:D014235(Trichinellosis), SnoMedCT:88264003(Infection by larvae of Trichinella spiralis), UMLS:C0040896(C0040896), MedDRA:10044607(Trichinella spiralis infection), NDFRT:N0000003008(Trichinellosis [Disease/Finding]), MONDO:MONDO:0019444(trichinellosis) +PA446767 Tricuspid Atresia """Atresia, Tricuspid"", ""Atresia, Tricuspid Valve"", ""Atresias, Tricuspid"", ""Atresias, Tricuspid Valve"", ""Tricuspid Atresias"", ""Tricuspid Valve Atresia"", ""Tricuspid Valve Atresias"", ""Tricuspid atresia"", ""Valve Atresia, Tricuspid"", ""Valve Atresias, Tricuspid""" MONDO:MONDO:0011514(tricuspid atresia), HP:HP:0011662(Tricuspid atresia) +PA165108228 Trigeminal neuralgia MeSH:D014277(Trigeminal Neuralgia), SnoMedCT:193090007(Trigeminal neuralgia NOS), UMLS:C0040997(C0040997), MedDRA:10029227(Neuralgia trigeminal), NDFRT:N0000003018(Trigeminal Neuralgia [Disease/Finding]), MONDO:MONDO:0008599(trigeminal neuralgia), HP:HP:0100661(Trigeminal neuralgia) +PA134850479 trimethylaminuria Fish odor syndrome, Trimethylaminuria SnoMedCT:237959005(Trimethylaminuria), UMLS:C0342739(C0342739), MedDRA:10068233(Trimethylaminuria), MONDO:MONDO:0011182(trimethylaminuria), HP:HP:0003614(Trimethylaminuria) +PA445931 Trismus """Lock Jaw"", ""Lockjaw"", ""Masseter Muscle Spasm"", ""Masseter Muscle Spasms"", ""Masseter Spasm"", ""Masseter Spasms"", ""Muscle Spasm, Masseter"", ""Muscle Spasms, Masseter"", ""Spasm, Masseter"", ""Spasm, Masseter Muscle"", ""Spasms, Masseter"", ""Spasms, Masseter Muscle""" MeSH:D014313(Trismus), SnoMedCT:87866006(Trismus), UMLS:C0041105(C0041105), MedDRA:10023158(Jaw spasm), NDFRT:N0000003020(Trismus [Disease/Finding]), HP:HP:0000211(Trismus) +PA445934 Trophoblastic Neoplasms """Cancer, Trophoblast"", ""Cancer, Trophoblastic"", ""Cancers, Trophoblast"", ""Cancers, Trophoblastic"", ""Neoplasm, Trophoblast"", ""Neoplasm, Trophoblastic"", ""Neoplasms, Trophoblast"", ""Neoplasms, Trophoblastic"", ""Trophoblast Cancer"", ""Trophoblast Cancers"", ""Trophoblast Neoplasm"", ""Trophoblast Neoplasms"", ""Trophoblast Tumor"", ""Trophoblast Tumors"", ""Trophoblastic Cancer"", ""Trophoblastic Cancers"", ""Trophoblastic Neoplasm"", ""Trophoblastic Tumor"", ""Trophoblastic Tumors"", ""Tumor, Trophoblast"", ""Tumor, Trophoblastic"", ""Tumors, Trophoblast"", ""Tumors, Trophoblastic""" MeSH:D014328(Trophoblastic Neoplasms), SnoMedCT:115234004(Trophoblastic neoplasm), UMLS:C0041182(C0041182), NDFRT:N0000003023(Trophoblastic Neoplasms [Disease/Finding]), MONDO:MONDO:0002872(trophoblastic neoplasm) +PA165108514 Trypanosomiasis NOS MeSH:D014352(Trypanosomiasis), SnoMedCT:186819000(Trypanosomiasis NOS), UMLS:C0041227(C0041227), MedDRA:10044707(Trypanosomiasis), NDFRT:N0000003025(Trypanosomiasis [Disease/Finding]), MONDO:MONDO:0000940(trypanosomiasis) +PA445941 Tuberculosis Tuberculoses MeSH:D014376(Tuberculosis), SnoMedCT:186282009(Tuberculosis NOS), SnoMedCT:371569005(Tuberculous), SnoMedCT:373576009(Infection due to Mycobacterium tuberculosis), SnoMedCT:56717001(Tuberculosis), UMLS:C0041296(C0041296), MedDRA:10021868(Infection TBC), NDFRT:N0000003030(Tuberculosis [Disease/Finding]), MONDO:MONDO:0018076(tuberculosis) +PA166048765 Tuberculosis, Cutaneous """NDFRT:N0000003034(Tuberculosis, Cutaneous)"", ""MONDO:MONDO:0021948(cutaneous tuberculosis)""" +PA165108490 Tuberculosis of eye NOS """MeSH:D014392(Tuberculosis, Ocular)"", ""SnoMedCT:186268009(Tuberculosis of eye NOS)"", ""UMLS:C0041322(C0041322)"", ""MedDRA:10015970(Eye tuberculosis NOS)"", ""NDFRT:N0000003044(Tuberculosis, Ocular [Disease/Finding])"", ""MONDO:MONDO:0006876(ocular tuberculosis)""" +PA445960 Tuberculosis, Pulmonary """PTB - Pulmonary tuberculosis"", ""Pulmonary Tuberculoses"", ""Pulmonary Tuberculosis"", ""Pulmonary tuberculosis"", ""Pulmonary tuberculosis NOS"", ""TB - Pulmonary tuberculosis"", ""Tuberculoses, Pulmonary""" MONDO:MONDO:0006052(pulmonary tuberculosis), HP:HP:0032262(Pulmonary tuberculosis) +PA445965 Tuberous Sclerosis """Bourneville Disease"", ""Bourneville Phacomatosis"", ""Bourneville Phakomatosis"", ""Bourneville's Disease"", ""Bourneville's disease"", ""Epiloia"", ""Epiloias"", ""Phacomatosis, Bourneville"", ""Phakomatosis, Bourneville"", ""Sclerosis, Tuberous"", ""TS - Tuberous sclerosis"", ""Tuberous sclerosis syndrome""" MeSH:D014402(Tuberous Sclerosis), SnoMedCT:7199000(Tuberous sclerosis syndrome), UMLS:C0041341(C0041341), MedDRA:10058894(Brain sclerosis), NDFRT:N0000003054(Tuberous Sclerosis [Disease/Finding]), MONDO:MONDO:0001734(tuberous sclerosis) +PA165108305 Tularemia NOS MeSH:D014406(Tularemia), SnoMedCT:186300002(Tularemia NOS), UMLS:C0041351(C0041351), MedDRA:10017330(Francisella tularensis infection), NDFRT:N0000003055(Tularemia [Disease/Finding]), MONDO:MONDO:0018077(tularemia) +PA446126 Tumor Lysis Syndrome """Syndrome, Tumor Lysis"", ""Syndrome, Tumour Lysis"", ""Syndromes, Tumor Lysis"", ""Syndromes, Tumour Lysis"", ""Tumor Lysis Syndromes"", ""Tumor lysis syndrome"", ""Tumour Lysis Syndrome"", ""Tumour Lysis Syndromes""" MeSH:D015275(Tumor Lysis Syndrome), SnoMedCT:277605001(Tumor lysis syndrome), UMLS:C0041364(C0041364), MedDRA:10045152(Tumor lysis syndrome), NDFRT:N0000003216(Tumor Lysis Syndrome [Disease/Finding]), MONDO:MONDO:0043875(tumor lysis syndrome) +PA445968 Turner Syndrome """Bonnevie Ullrich Syndrome"", ""Bonnevie-Ullrich Syndrome"", ""Gonadal Dysgenesis, 45,X"", ""Gonadal Dysgenesis, XO"", ""Status Bonnevie Ullrich"", ""Status Bonnevie-Ullrich"", ""TS - Turner's syndrome"", ""Testicular dysgenesis"", ""Turner's Syndrome"", ""Turner's syndrome"", ""Turners Syndrome"", ""XO Gonadal Dysgenesis""" MeSH:D014424(Turner Syndrome), SnoMedCT:268299006(Turner's syndrome NOS), SnoMedCT:38804009(Turner syndrome), UMLS:C0041408(C0041408), MedDRA:10045181(Turner's syndrome), NDFRT:N0000003057(Turner Syndrome [Disease/Finding]), MONDO:MONDO:0019499(Turner syndrome) +PA445970 Typhoid Fever """Abdominal Typhus"", ""Enteric Fever"", ""Enteric Fevers"", ""Fever, Enteric"", ""Fever, Typhoid"", ""Fevers, Enteric"", ""Fevers, Typhoid"", ""Infection by Salmonella typhi"", ""Typhoid"", ""Typhoid Fevers"", ""Typhoid fever"", ""Typhoids"", ""Typhus, Abdominal""" MeSH:D014435(Typhoid Fever), SnoMedCT:4834000(Typhoid fever), UMLS:C0041466(C0041466), MedDRA:10014862(Enteric fever), NDFRT:N0000003059(Typhoid Fever [Disease/Finding]), MONDO:MONDO:0005619(typhoid fever) +PA445973 Ulcer """Ulcer - lesion"", ""Ulceration"", ""Ulcerative"", ""Ulcerative lesion, NOS"", ""Ulcers""" MeSH:D014456(Ulcer), SnoMedCT:255321001(Ulcerative), SnoMedCT:263913002(Ulceration), SnoMedCT:429040005(Ulcer), SnoMedCT:56208002(Ulcer), UMLS:C0041582(C0041582), MedDRA:10045285(Ulcer), NDFRT:N0000003062(Ulcer [Disease/Finding]), MONDO:MONDO:0043839(ulcer disease) +PA443750 Ulcerative Colitis """Chronic ulcerative colitis"", ""Chronic ulcerative colitis, NOS"", ""Colitides, Ulcerative"", ""Colitis gravis"", ""Colitis gravis, NOS"", ""Hemorrhagic Proctocolitides"", ""Hemorrhagic Proctocolitis"", ""Hemorrhagic Rectocolitides"", ""Hemorrhagic Rectocolitis"", ""Idiopathic proctocolitis"", ""Proctocolitides, Hemorrhagic"", ""Proctocolitides, Ulcerative"", ""Proctocolitis, Hemorrhagic"", ""Proctocolitis, Ulcerative"", ""Rectocolitides, Hemorrhagic"", ""Rectocolitides, Ulcerative"", ""Rectocolitis, Hemorrhagic"", ""Rectocolitis, Ulcerative"", ""UC - Ulcerative colitis"", ""Ulcerative Colitides"", ""Ulcerative Colitis"", ""Ulcerative Proctocolitides"", ""Ulcerative Proctocolitis"", ""Ulcerative Rectocolitides"", ""Ulcerative Rectocolitis"", ""Ulcerative colitis"", ""Ulcerative colitis, NOS""" """MeSH:D003093(Colitis, Ulcerative)"", ""SnoMedCT:64766004(Ulcerative colitis)"", ""UMLS:C0009324(C0009324)"", ""MedDRA:10009900(Colitis ulcerative)"", ""NDFRT:N0000000807(Colitis, Ulcerative [Disease/Finding])"", ""MONDO:MONDO:0005101(ulcerative colitis)"", ""HP:HP:0100279(Ulcerative colitis)""" +PA445975 Unconsciousness """Consciousness, Loss of"", ""Loss of Consciousness"", ""Loss of consciousness"", ""State, Unconscious"", ""Unconscious"", ""Unconscious State"", ""Unconscious States"", ""[D]Unconsciousness""" MeSH:D014474(Unconsciousness), SnoMedCT:206714001([D]Unconsciousness), SnoMedCT:418107008(Unconscious), SnoMedCT:419045004(Loss of consciousness), UMLS:C0041657(C0041657), MedDRA:10010766(Consciousness awaking loss), NDFRT:N0000003064(Unconsciousness [Disease/Finding]), HP:HP:0001259(Coma) +PA165108552 Unspecified conjunctivitis MeSH:D003231(Conjunctivitis), SnoMedCT:193875009(Unspecified conjunctivitis), UMLS:C0009763(C0009763), MedDRA:10010741(Conjunctivitis), NDFRT:N0000000833(Conjunctivitis [Disease/Finding]), MONDO:MONDO:0003799(conjunctivitis) +PA165108299 Unspecified optic neuritis MeSH:D009902(Optic Neuritis), SnoMedCT:194052008(Unspecified optic neuritis), UMLS:C0029134(C0029134), MedDRA:10029247(Neuritis optic), NDFRT:N0000002228(Optic Neuritis [Disease/Finding]), MONDO:MONDO:0005885(optic neuritis) +PA165108368 Unspecified osteomyelitis NOS MeSH:D010019(Osteomyelitis), SnoMedCT:203244005(Unspecified osteomyelitis NOS), UMLS:C0029443(C0029443), MedDRA:10031252(Osteomyelitis), NDFRT:N0000002256(Osteomyelitis [Disease/Finding]), MONDO:MONDO:0005246(osteomyelitis) +PA165108480 Unspecified scleritis MeSH:D015423(Scleritis), SnoMedCT:194140003(Unspecified scleritis), UMLS:C0036416(C0036416), MedDRA:10039705(Scleritis), NDFRT:N0000003233(Scleritis [Disease/Finding]), MONDO:MONDO:0001718(scleritis) +PA165108338 Unspecified teniasis MeSH:D013622(Taeniasis), SnoMedCT:187150005(Unspecified teniasis), UMLS:C0039254(C0039254), MedDRA:10043095(Taeniasis), NDFRT:N0000002896(Taeniasis [Disease/Finding]), MONDO:MONDO:0000367(taeniasis) +PA443364 Unstable Angina """Angina at Rest"", ""Angina, Preinfarction"", ""Anginas, Preinfarction"", ""Anginas, Unstable"", ""Impending infarction"", ""Myocardial Preinfarction Syndrome"", ""Myocardial Preinfarction Syndromes"", ""Preinfarction Angina"", ""Preinfarction Anginas"", ""Preinfarction Syndrome, Myocardial"", ""Preinfarction Syndromes, Myocardial"", ""Preinfarction angina"", ""Syndrome, Myocardial Preinfarction"", ""Syndromes, Myocardial Preinfarction"", ""Unstable Angina"", ""Unstable Anginas""" """MeSH:D000789(Angina, Unstable)"", ""SnoMedCT:25106000(Impending infarction)"", ""SnoMedCT:64333001(Preinfarction angina)"", ""UMLS:C0002965(C0002965)"", ""MedDRA:10002375(Angina at rest)"", ""NDFRT:N0000000408(Angina, Unstable [Disease/Finding])"", ""MONDO:MONDO:0006805(intermediate coronary syndrome)""" +PA445977 Uremia """Azotemia"", ""Azotemias"", ""Uraemia"", ""Uraemia, NOS"", ""Uremia, NOS"", ""Uremias""" MeSH:D014511(Uremia), SnoMedCT:44730006(Uraemia), UMLS:C0041948(C0041948), MedDRA:10046320(Uraemia), NDFRT:N0000003066(Uremia [Disease/Finding]), MONDO:MONDO:0007008(uremia) +PA445981 Ureteral Obstruction """Intrinsic ureteral obstruction"", ""Obstruction, Ureteral"", ""Obstructions, Ureteral"", ""Occlusion of ureter"", ""Occlusion of ureter, NOS"", ""Ureteral Obstructions"", ""Ureteric obstruction"", ""Ureteric obstruction, NOS""" MeSH:D014517(Ureteral Obstruction), SnoMedCT:197809003(Occlusion of ureter NOS), SnoMedCT:20018005(Occlusion of ureter), UMLS:C0041956(C0041956), MedDRA:10029970(Obstruction ureter), NDFRT:N0000003070(Ureteral Obstruction [Disease/Finding]), MONDO:MONDO:0003329(ureteral obstruction), HP:HP:0006000(Ureteral obstruction) +PA166048840 Urethral Obstruction NDFRT:N0000003074(Urethral Obstruction), MONDO:MONDO:0001556(urethral obstruction), HP:HP:0000796(Urethral obstruction) +PA165108627 Urethritis unspecified MeSH:D014526(Urethritis), SnoMedCT:197905005(Urethritis unspecified), UMLS:C0041976(C0041976), MedDRA:10046480(Urethritis), NDFRT:N0000003076(Urethritis [Disease/Finding]), MONDO:MONDO:0005297(urethritis) +PA443512 Urinary Bladder Neoplasms """Bladder Cancer"", ""Bladder Cancers"", ""Bladder Neoplasm"", ""Bladder Neoplasms"", ""Bladder Tumor"", ""Bladder Tumors"", ""Cancer of Bladder"", ""Cancer of the Bladder"", ""Cancer, Bladder"", ""Cancers, Bladder"", ""NGB - New growth of bladder"", ""Neoplasm of bladder"", ""Neoplasm, Bladder"", ""Neoplasms, Bladder"", ""Tumor, Bladder"", ""Tumors, Bladder"", ""Tumour of urinary bladder""" MeSH:D001749(Urinary Bladder Neoplasms), SnoMedCT:126885006(Neoplasm of bladder), UMLS:C0005695(C0005695), MedDRA:10005056(Bladder neoplasm), NDFRT:N0000000564(Urinary Bladder Neoplasms [Disease/Finding]), MONDO:MONDO:0004987(urinary bladder neoplasm) +PA443513 Urinary Bladder, Neurogenic """Atonic Neurogenic Bladder"", ""Atonic Neurogenic Bladders"", ""Bladder Disorder, Neurogenic"", ""Bladder Disorders, Neurogenic"", ""Bladder Neurogenesis"", ""Bladder, Atonic Neurogenic"", ""Bladder, Neurogenic"", ""Bladder, Neuropathic"", ""Bladder, Spastic Neurogenic"", ""Bladder, Uninhibited Neurogenic"", ""Bladders, Atonic Neurogenic"", ""Bladders, Neurogenic"", ""Bladders, Neuropathic"", ""Bladders, Spastic Neurogenic"", ""Bladders, Uninhibited Neurogenic"", ""Neurogeneses, Bladder"", ""Neurogenesis, Bladder"", ""Neurogenic Bladder"", ""Neurogenic Bladder Disorder"", ""Neurogenic Bladder Disorders"", ""Neurogenic Bladder, Atonic"", ""Neurogenic Bladder, Spastic"", ""Neurogenic Bladder, Uninhibited"", ""Neurogenic Bladders"", ""Neurogenic Bladders, Atonic"", ""Neurogenic Bladders, Spastic"", ""Neurogenic Bladders, Uninhibited"", ""Neurogenic Dysfunction of the Urinary Bladder"", ""Neurogenic Urinary Bladder Disorder"", ""Neurogenic bladder"", ""Neurogenic dysfunction of the urinary bladder"", ""Neuropathic Bladder"", ""Neuropathic Bladders"", ""Spastic Neurogenic Bladder"", ""Spastic Neurogenic Bladders"", ""Uninhibited Neurogenic Bladder"", ""Uninhibited Neurogenic Bladders"", ""Urinary Bladder Disorder, Neurogenic"", ""Urinary Bladder Neurogenic Dysfunction""" """MeSH:D001750(Urinary Bladder, Neurogenic)"", ""SnoMedCT:397732007(Neurogenic dysfunction of the urinary bladder)"", ""SnoMedCT:398064005(Neurogenic bladder)"", ""UMLS:C0005697(C0005697)"", ""MedDRA:10005059(Bladder neurogenic)"", ""NDFRT:N0000000565(Urinary Bladder, Neurogenic [Disease/Finding])"", ""MONDO:MONDO:0001445(obsolete neurogenic bladder)""" +PA445988 Urinary Calculi """Bladder stones"", ""Calculi, Urinary"", ""Calculus, Urinary"", ""Stone, Urinary"", ""Stone, Urinary Tract"", ""Stones, Urinary"", ""Stones, Urinary Tract"", ""Tract Stone, Urinary"", ""Tract Stones, Urinary"", ""Urinary Calculus"", ""Urinary Stone"", ""Urinary Stones"", ""Urinary Tract Stone"", ""Urinary Tract Stones"", ""Urinary calculus NOS"", ""Urinary stone"", ""Urolith"", ""Urolithiasis""" MeSH:D014545(Urinary Calculi), SnoMedCT:197797001(Urinary calculus NOS), SnoMedCT:371438008(Urolith), UMLS:C0042018(C0042018), MedDRA:10007027(Calculus urinary), NDFRT:N0000003077(Urinary Calculi [Disease/Finding]) +PA445990 Urinary Incontinence """Absence of bladder continence"", ""Bladder incontinence"", ""Bladder: incontinent"", ""Incontinence, Urinary"", ""Incontinences, Urinary"", ""Involuntary urination"", ""Lack of bladder control"", ""Leaking of urine"", ""Loss of bladder control"", ""UI - Urinary incontinence"", ""Unable to hold fluids"", ""Unable to prevent bladder emptying"", ""Urinary Incontinences"", ""Urinary incontinence"", ""Urine incontinence"", ""Weak bladder"", ""[D]Incontinence of urine""" MeSH:D014549(Urinary Incontinence), SnoMedCT:165232002(Urinary incontinence), SnoMedCT:207170000([D]Incontinence of urine), UMLS:C0042024(C0042024), MedDRA:10005046(Bladder incontinence), NDFRT:N0000003079(Urinary Incontinence [Disease/Finding]), HP:HP:0000020(Urinary incontinence) +PA445991 Urinary Incontinence, Stress """Genuine stress incontinence"", ""Incontinence when straining"", ""Incontinence, Urinary Stress"", ""SI - Stress incontinence"", ""Stress Incontinence, Urinary"", ""Stress bladder incontinence"", ""Stress urinary incontinence"", ""Urinary Stress Incontinence"", ""Urinary stress incontinence""" """MeSH:D014550(Urinary Incontinence, Stress)"", ""SnoMedCT:22220005(Genuine stress incontinence)"", ""UMLS:C0042025(C0042025)"", ""MedDRA:10042213(Stress incontinence)"", ""NDFRT:N0000003080(Urinary Incontinence, Stress [Disease/Finding])"", ""HP:HP:0010992(Stress urinary incontinence)""" +PA446264 Urinary Retention """Cannot pass urine - retention"", ""Not passing urine"", ""Retention of urine"", ""Retention, Urinary"", ""Unable to empty bladder"", ""Unable to pass urine"", ""Urinary retention"", ""[D]Retention of urine"", ""[D]Retention of urine unspecified""" MeSH:D016055(Urinary Retention), SnoMedCT:130951007(Bladder retention of urine), SnoMedCT:207163000([D]Retention of urine), SnoMedCT:207169001([D]Retention of urine unspecified), SnoMedCT:267064002(Retention of urine), UMLS:C0080274(C0080274), MedDRA:10005045(Bladder inability to empty), NDFRT:N0000003353(Urinary Retention [Disease/Finding]), HP:HP:0000016(Urinary retention) +PA445992 Urinary Tract Infections """Infection, Urinary Tract"", ""Infections, Urinary Tract"", ""Tract Infection, Urinary"", ""Tract Infections, Urinary"", ""UTI - Urinary tract infection"", ""Urinary Tract Infection"", ""Urinary tract infection"", ""Urinary tract infection, NOS"", ""Urinary tract infection, site not specified NOS"", ""Urinary tract infectious disease"", ""Urinary tract infectious disease, NOS""" """MeSH:D014552(Urinary Tract Infections)"", ""SnoMedCT:197930008(Urinary tract infection, site not specified NOS)"", ""SnoMedCT:274110008(Urinary infection NOS)"", ""SnoMedCT:68566005(Urinary tract infectious disease)"", ""UMLS:C0042029(C0042029)"", ""MedDRA:10021872(Infection urinary tract)"", ""NDFRT:N0000003081(Urinary Tract Infections [Disease/Finding])"", ""MONDO:MONDO:0100338(urinary tract infection)""" +PA445995 Urogenital Neoplasms """Cancer, Genito-urinary"", ""Cancer, Genitourinary"", ""Cancer, Urogenital"", ""Cancers, Genito-urinary"", ""Cancers, Genitourinary"", ""Cancers, Urogenital"", ""Genito urinary Cancer"", ""Genito-urinary Cancer"", ""Genito-urinary Cancers"", ""Genito-urinary Neoplasm"", ""Genito-urinary Neoplasms"", ""Genitourinary Cancer"", ""Genitourinary Cancers"", ""Genitourinary Neoplasm"", ""Genitourinary Neoplasms"", ""Neoplasm, Genito-urinary"", ""Neoplasm, Genitourinary"", ""Neoplasm, Urogenital"", ""Neoplasms, Genito-urinary"", ""Neoplasms, Genitourinary"", ""Neoplasms, Urogenital"", ""Urogenital Cancer"", ""Urogenital Cancers"", ""Urogenital Neoplasm""" MeSH:D014565(Urogenital Neoplasms), UMLS:C0042065(Urogenital Neoplasms [Disease/Finding]), NDFRT:N0000003084(Urogenital Neoplasms [Disease/Finding]), MONDO:MONDO:0025370(obsolete urogenital neoplasm) +PA445997 Urologic Diseases """Disease of urinary tract"", ""Disease of urinary tract, NOS"", ""Disease, Urinary Tract"", ""Disease, Urologic"", ""Disease, Urological"", ""Diseases, Urinary Tract"", ""Diseases, Urologic"", ""Diseases, Urological"", ""Disorder of the urinary system"", ""Disorder of urinary system, unspecified"", ""Disorder of urinary tract"", ""Disorder of urinary tract, NOS"", ""Kidney/urinary disease NOS"", ""Syndrome of urinary tract"", ""Urinary Tract Disease"", ""Urinary Tract Diseases"", ""Urinary system disease"", ""Urologic Disease"", ""Urologic disease"", ""Urologic disease, NOS"", ""Urological Disease"", ""Urological Diseases"", ""Urological disorder""" """MeSH:D014570(Urologic Diseases)"", ""SnoMedCT:128606002(Disorder of the urinary system)"", ""SnoMedCT:197951006(Disorder of urinary system, unspecified)"", ""SnoMedCT:307415006(Kidney/urinary disease NOS)"", ""SnoMedCT:41368006(Disorder of urinary tract)"", ""UMLS:C0042075(C0042075)"", ""MedDRA:10013278(Disorder urinary tract)"", ""NDFRT:N0000003086(Urologic Diseases [Disease/Finding])"", ""MONDO:MONDO:0002118(urinary system disorder)""" +PA445998 Urologic Neoplasms """Cancer of Urinary Tract"", ""Cancer of the Urinary Tract"", ""Cancer, Urinary Tract"", ""Cancer, Urologic"", ""Cancer, Urological"", ""Cancers, Urinary Tract"", ""Cancers, Urologic"", ""Cancers, Urological"", ""Neoplasm of urinary system"", ""Neoplasm of urinary tract"", ""Neoplasm of urinary tract proper"", ""Neoplasm, Urinary Tract"", ""Neoplasm, Urologic"", ""Neoplasm, Urological"", ""Neoplasms, Urinary Tract"", ""Neoplasms, Urologic"", ""Neoplasms, Urological"", ""Tract Neoplasm, Urinary"", ""Tract Neoplasms, Urinary"", ""Tumour of urinary tract"", ""Urinary Tract Cancer"", ""Urinary Tract Cancers"", ""Urinary Tract Neoplasm"", ""Urinary Tract Neoplasms"", ""Urologic Cancer"", ""Urologic Cancers"", ""Urologic Neoplasm"", ""Urological Cancer"", ""Urological Cancers"", ""Urological Neoplasm"", ""Urological Neoplasms""" MeSH:D014571(Urologic Neoplasms), SnoMedCT:126879004(Neoplasm of urinary system), SnoMedCT:254913005(Neoplasm of urinary tract proper), UMLS:C0042076(C0042076), MedDRA:10061398(Urinary tract neoplasm), NDFRT:N0000003087(Urologic Neoplasms [Disease/Finding]), MONDO:MONDO:0004180(benign urinary system neoplasm) +PA445999 Urticaria Hives, Urticaria NOS, Urticarias MeSH:D014581(Urticaria), SnoMedCT:126485001(Urticaria), SnoMedCT:267818006(Urticaria NOS), SnoMedCT:64305001(Urticaria), UMLS:C0042109(C0042109), MedDRA:10020197(Hives), NDFRT:N0000003088(Urticaria [Disease/Finding]), MONDO:MONDO:0005492(urticaria), HP:HP:0001025(Urticaria) +PA443685 Uterine Cervical Neoplasm """Cancer of Cervix"", ""Cancer of the Cervix"", ""Cancer, Cervical"", ""Cancer, Cervix"", ""Cancers, Cervical"", ""Cancers, Cervix"", ""Cervical Cancer"", ""Cervical Cancers"", ""Cervical Neoplasm"", ""Cervical Neoplasms"", ""Cervix Cancer"", ""Cervix Cancers"", ""Cervix Neoplasm"", ""Cervix Neoplasms"", ""Neoplasm of uterine cervix"", ""Neoplasm, Cervical"", ""Neoplasm, Cervix"", ""Neoplasms, Cervical"", ""Neoplasms, Cervix"", ""Tumor of cervix""" MeSH:D002583(Uterine Cervical Neoplasms), SnoMedCT:123841004(Neoplasm of uterine cervix), UMLS:C0007873(C0007873), MedDRA:10008290(Cervical neoplasm NOS), NDFRT:N0000171657(Uterine Cervical Neoplasms [Disease/Finding]), MONDO:MONDO:0021230(uterine cervix neoplasm) +PA165108944 Uterine disorder Uterine disorders NOS MeSH:D014591(Uterine Diseases), SnoMedCT:198335006(Disorder of uterus NOS), UMLS:C0042131(C0042131), MedDRA:10013280(Disorder uterine (NOS)), NDFRT:N0000003090(Uterine Diseases [Disease/Finding]), MONDO:MONDO:0002654(uterine disorder) +PA446004 Uterine Neoplasms """Cancer of Uterus"", ""Cancer of the Uterus"", ""Cancer, Uterine"", ""Cancer, Uterus"", ""Cancers, Uterine"", ""Cancers, Uterus"", ""Neoplasm of uterus"", ""Neoplasm, Uterine"", ""Neoplasm, Uterus"", ""Neoplasms, Uterine"", ""Neoplasms, Uterus"", ""Tumor of uterus"", ""Tumour of uterus"", ""Uterine Cancer"", ""Uterine Cancers"", ""Uterine Neoplasm"", ""Uterus Cancer"", ""Uterus Cancers"", ""Uterus Neoplasm"", ""Uterus Neoplasms""" MeSH:D014594(Uterine Neoplasms), SnoMedCT:126908007(Neoplasm of uterus), UMLS:C0042138(C0042138), MedDRA:10029102(Neoplasm uterine), NDFRT:N0000003093(Uterine Neoplasms [Disease/Finding]), MONDO:MONDO:0002715(uterine cancer) +PA446010 Uveitis Intraocular inflammation, Uveitides MeSH:D014605(Uveitis), SnoMedCT:128473001(Uveitis), UMLS:C0042164(C0042164), MedDRA:10046851(Uveitis), NDFRT:N0000003099(Uveitis [Disease/Finding]), MONDO:MONDO:0020283(uveitis), HP:HP:0000554(Uveitis) +PA447192 Uveitis, Anterior """Anterior Uveitides"", ""Anterior Uveitis"", ""Anterior uveitis"", ""Uveitides, Anterior""" """MeSH:D014606(Uveitis, Anterior)"", ""SnoMedCT:410692006(Anterior uveitis)"", ""UMLS:C0042165(C0042165)"", ""MedDRA:10002709(Anterior uveitis)"", ""NDFRT:N0000003100(Uveitis, Anterior [Disease/Finding])"", ""MONDO:MONDO:0006651(anterior uveitis)"", ""HP:HP:0012122(Anterior uveitis)""" +PA166159452 Vaginal dryness SnoMedCT:31908003(vaginal dryness), MedDRA:10046904(Vaginal dryness), HP:HP:0031088(Vaginal dryness) +PA165108369 Vaginal trichomoniasis Trichomonal leukorrhea vaginalis, Trichomonal leukorrhoea vaginalis, Trichomonal vaginitis MeSH:D014247(Trichomonas Vaginitis), SnoMedCT:500000(Vaginal trichomoniasis), UMLS:C0040923(C0040923), MedDRA:10044616(Trichomonal vaginitis), NDFRT:N0000003010(Trichomonas Vaginitis [Disease/Finding]), MONDO:MONDO:0005993(Trichomonas vaginitis urogenital infection) +PA446020 Varicose Veins """Phlebectasia"", ""Uneven venous ectasia"", ""VV - Varicose veins"", ""VVs - Varicose veins"", ""Varices"", ""Varicose Vein"", ""Varicose vein"", ""Varicose veins"", ""Varicose veins NOS"", ""Varicosities"", ""Varix"", ""Varix, NOS"", ""Vein, Varicose"", ""Veins, Varicose"", ""Venous ectasia"", ""Venous varices""" MeSH:D014648(Varicose Veins), SnoMedCT:128060009(Venous varices), SnoMedCT:12856003(Varix), SnoMedCT:266331000(Varicose veins NOS), SnoMedCT:276504003(Varices), SnoMedCT:399989005(Phlebectasia), UMLS:C0042345(C0042345), MedDRA:10046996(Varicose vein), NDFRT:N0000003110(Varicose Veins [Disease/Finding]), MONDO:MONDO:0008638(varicose disease), HP:HP:0002619(Varicose veins) +PA446021 Vascular Diseases """Angiopathy"", ""Angiopathy, NOS"", ""Disease, Vascular"", ""Diseases, Vascular"", ""Disorder of blood vessel"", ""Vascular Disease"", ""Vascular disease"", ""Vascular disease, NOS"", ""Vascular disorder"", ""Vascular disorder, NOS""" MeSH:D014652(Vascular Diseases), SnoMedCT:27550009(Vascular disorder), UMLS:C0042373(C0042373), MedDRA:10059245(Angiopathy), NDFRT:N0000003111(Vascular Diseases [Disease/Finding]), MONDO:MONDO:0005385(vascular disorder) +PA446023 Vasculitis """Angiitides"", ""Angiitis"", ""Angiitis, NOS"", ""Vasculitides"", ""Vasculitis, NOS""" MeSH:D014657(Vasculitis), SnoMedCT:31996006(Vasculitis), UMLS:C0042384(C0042384), MedDRA:10002369(Angiitis), NDFRT:N0000003113(Vasculitis [Disease/Finding]), MONDO:MONDO:0018882(vasculitis), HP:HP:0002633(Vasculitis) +PA165108437 Vasomotor rhinitis """MeSH:D012223(Rhinitis, Vasomotor)"", ""SnoMedCT:8229003(Vasomotor rhinitis)"", ""UMLS:C0035460(C0035460)"", ""MedDRA:10047145(Vasomotor rhinitis)"", ""NDFRT:N0000002637(Rhinitis, Vasomotor [Disease/Finding])"", ""MONDO:MONDO:0006004(vasomotor rhinitis)""" +PA447298 Venous thromboembolism VTE MeSH:D054556(Venous Thromboembolism), UMLS:C1861172(Venous thromboembolism), MedDRA:10066899(Venous thromboembolism), NDFRT:N0000181252(Venous Thromboembolism [Disease/Finding]), MONDO:MONDO:0005399(venous thromboembolism) +PA446969 Venous Thrombosis """Deep Vein Thromboses"", ""Deep Vein Thrombosis"", ""Deep Venous Thromboses"", ""Deep Venous Thrombosis"", ""Deep-Vein Thromboses"", ""Deep-Vein Thrombosis"", ""Deep-Venous Thromboses"", ""Deep-Venous Thrombosis"", ""Phlebothromboses"", ""Phlebothrombosis"", ""Thromboses, Deep Vein"", ""Thromboses, Deep Venous"", ""Thromboses, Deep-Vein"", ""Thromboses, Deep-Venous"", ""Thromboses, Venous"", ""Thrombosis of vein NOS"", ""Thrombosis, Deep Vein"", ""Thrombosis, Deep Venous"", ""Thrombosis, Deep-Vein"", ""Thrombosis, Deep-Venous"", ""Thrombosis, Venous"", ""Vein Thromboses, Deep"", ""Vein Thrombosis, Deep"", ""Venous Thromboses"", ""Venous Thromboses, Deep"", ""Venous Thrombosis, Deep"", ""Venous thrombosis, NOS""" MeSH:D020246(Venous Thrombosis), SnoMedCT:111293003(Venous thrombosis), SnoMedCT:266269008(Thrombosis of vein NOS), UMLS:C0042487(C0042487), MedDRA:10034904(Phlebothrombosis), NDFRT:N0000004074(Venous Thrombosis [Disease/Finding]), HP:HP:0004936(Venous thrombosis) +PA446028 Ventricular Fibrillation """Fibrillation, Ventricular"", ""Fibrillations, Ventricular"", ""Ventricular Fibrillations""" MeSH:D014693(Ventricular Fibrillation), SnoMedCT:71908006(Ventricular fibrillation), UMLS:C0042510(C0042510), MedDRA:10016571(Fibrillation paroxysmal vent), NDFRT:N0000003118(Ventricular Fibrillation [Disease/Finding]), MONDO:MONDO:0000190(ventricular fibrillation), HP:HP:0001663(Ventricular fibrillation) +PA446031 Vertigo """Brain Stem Vertigo"", ""Brainstem Vertigo"", ""Brainstem Vertigos"", ""Central Nervous System Origin Vertigo"", ""Central Origin Vertigo"", ""Constant Vertigo"", ""Essential Vertigo"", ""Intermittant Vertigo"", ""Paroxysmal Vertigo"", ""Peripheral Vertigo"", ""Positional Vertigo"", ""Rotation of self"", ""Rotatory vertigo"", ""Sensation, Spinning"", ""Sensations, Spinning"", ""Spinning Sensation"", ""Spinning Sensations"", ""Subjective Vertigo"", ""Subjective vertigo"", ""Vertigo - giddiness"", ""Vertigo, Brain Stem"", ""Vertigo, Brainstem"", ""Vertigo, Central Nervous System Origin"", ""Vertigo, Central Origin"", ""Vertigo, Constant"", ""Vertigo, Essential"", ""Vertigo, Intermittant"", ""Vertigo, Paroxysmal"", ""Vertigo, Peripheral"", ""Vertigo, Positional"", ""Vertigo, Subjective"", ""Vertigos, Brainstem""" MeSH:D014717(Vertigo), SnoMedCT:271792009(Vertigo NOS), SnoMedCT:399090003(Subjective vertigo), SnoMedCT:399153001(Vertigo), UMLS:C0042571(C0042571), MedDRA:10019201(Head revolving around), NDFRT:N0000003121(Vertigo [Disease/Finding]), HP:HP:0002321(Vertigo) +PA162364314 Very-long-chain Acyl-coenzyme A Dehydrogenase Deficiency MedDRA:10072656(Very long-chain acyl-coenzyme A dehydrogenase deficiency), MONDO:MONDO:0008723(very long chain acyl-CoA dehydrogenase deficiency) +PA166170066 virological response +PA446038 Virus Diseases """Disease caused by virus"", ""Disease caused by virus, NOS"", ""Disease due to virus"", ""Disease, Viral"", ""Disease, Virus"", ""Diseases, Viral"", ""Diseases, Virus"", ""Viral Disease"", ""Viral Diseases"", ""Viral disease"", ""Viral illness, NOS"", ""Viral infection"", ""Viral infection NOS"", ""Viral infection, NOS"", ""Virus Disease""" MeSH:D014777(Virus Diseases), SnoMedCT:266116004(Viral infection NOS), SnoMedCT:34014006(Viral disease), UMLS:C0042769(C0042769), MedDRA:10021876(Infection viral), NDFRT:N0000003128(Virus Diseases [Disease/Finding]), MONDO:MONDO:0005108(viral infectious disease) +PA447310 Vision Disorder """Blindness, Day"", ""Day Blindness"", ""Deaf-Blind Disorders"", ""Disorder of vision"", ""Disorder of vision, NOS"", ""Hemeralopia"", ""Hemeralopias"", ""Macropsia"", ""Macropsias"", ""Metamorphopsia"", ""Metamorphopsias"", ""Micropsia"", ""Micropsias"", ""Vision Disorder"", ""Vision Disorders"", ""Vision disorder"", ""Vision disorder, NOS"", ""Visual system disorder"", ""visual disorders""" MeSH:D014786(Vision Disorders), SnoMedCT:128127008(Visual system disorder), SnoMedCT:95677002(Disorder of vision), UMLS:C0042790(C0042790), MedDRA:10013266(Disorder sight), NDFRT:N0000003130(Vision Disorders [Disease/Finding]), MONDO:MONDO:0021084(vision disorder) +PA446043 Vitamin B 12 Deficiency """Cobalamin deficiency"", ""Deficiencies, Vitamin B12"", ""Deficiency of vitamin B>12<"", ""Deficiency, Vitamin B 12"", ""Deficiency, Vitamin B12"", ""Vitamin B12 Deficiencies"", ""Vitamin B12 Deficiency"", ""Vitamin B12 deficiency""" MeSH:D014806(Vitamin B 12 Deficiency), SnoMedCT:190634004(Cobalamin deficiency), UMLS:C0042847(C0042847), MedDRA:10052831(Cobalamin deficiency), NDFRT:N0000003133(Vitamin B 12 Deficiency [Disease/Finding]), MONDO:MONDO:0020696(vitamin B12 deficiency) +PA446044 Vitamin D Deficiency """Avitaminosis D NOS"", ""Deficiencies, Vitamin D"", ""Deficiency, Vitamin D"", ""Vitamin D Deficiencies"", ""Vitamin D deficiency, NOS""" MeSH:D014808(Vitamin D Deficiency), SnoMedCT:190649007(Avitaminosis D NOS), SnoMedCT:34713006(Vitamin D deficiency), UMLS:C0042870(C0042870), MedDRA:10046242(Unspecified vitamin D deficiency), NDFRT:N0000003134(Vitamin D Deficiency [Disease/Finding]), MONDO:MONDO:0100471(vitamin D deficiency) +PA446046 Vitamin K Deficiency """Deficiencies, Vitamin K"", ""Deficiency, Vitamin K"", ""Vitamin K Deficiencies""" MeSH:D014813(Vitamin K Deficiency), SnoMedCT:52675005(Vitamin K deficiency), UMLS:C0042880(C0042880), MedDRA:10012136(Deficiency of vitamin K), NDFRT:N0000003136(Vitamin K Deficiency [Disease/Finding]), MONDO:MONDO:0001244(vitamin K deficiency hemorrhagic disease) +PA446047 Vitiligo MeSH:D014820(Vitiligo), SnoMedCT:56727007(Vitiligo), UMLS:C0042900(C0042900), MedDRA:10047642(Vitiligo), NDFRT:N0000003137(Vitiligo [Disease/Finding]), MONDO:MONDO:0008661(vitiligo), HP:HP:0001045(Vitiligo) +PA446050 Voice Disorders """Disturbance, Voice"", ""Disturbances, Voice"", ""Dysphonia"", ""Dysphonia, Flaccid"", ""Dysphonia, Hyperkinetic"", ""Dysphonia, Organic Tremor"", ""Dysphonia, Spastic"", ""Dysphonia, Spastic Pseudobulbar"", ""Dysphonias, Flaccid"", ""Dysphonias, Hyperkinetic"", ""Dysphonias, Organic Tremor"", ""Dysphonias, Spastic"", ""Dysphonias, Spastic Pseudobulbar"", ""Fatigue, Voice"", ""Fatigues, Voice"", ""Flaccid Dysphonia"", ""Flaccid Dysphonias"", ""Hyperkinetic Dysphonia"", ""Hyperkinetic Dysphonias"", ""Neurologic Adducter Spastic Dysphonia"", ""Neurologic Voice Disorder"", ""Neurologic Voice Disorders"", ""Organic Tremor Dysphonia"", ""Organic Tremor Dysphonias"", ""Phonation Disorder"", ""Phonation Disorders"", ""Pseudobulbar Dysphonia, Spastic"", ""Pseudobulbar Dysphonias, Spastic"", ""Spastic Dysphonia"", ""Spastic Dysphonia, Neurologic Adducter"", ""Spastic Dysphonias"", ""Spastic Pseudobulbar Dysphonia"", ""Spastic Pseudobulbar Dysphonias"", ""Tremor Dysphonia, Organic"", ""Tremor Dysphonias, Organic"", ""Voice Disorder"", ""Voice Disorder, Neurologic"", ""Voice Disorders, Neurologic"", ""Voice Disturbance"", ""Voice Disturbances"", ""Voice Fatigue"", ""Voice Fatigues""" MeSH:D014832(Voice Disorders), UMLS:C0042940(Voice Disorders [Disease/Finding]), NDFRT:N0000003140(Voice Disorders [Disease/Finding]), MONDO:MONDO:0043862(voice disorders) +PA446051 Vomiting Emesis, Finding of vomiting, Observation of vomiting, Vomiting NOS, Vomiting symptom, [D]Emesis, [D]Vomiting MeSH:D014839(Vomiting), SnoMedCT:162067002(Vomiting NOS), SnoMedCT:207112000([D]Vomiting), SnoMedCT:207113005([D]Emesis), SnoMedCT:249497008(Vomiting symptom), SnoMedCT:300359004(Finding of vomiting), SnoMedCT:422400008(Vomiting), UMLS:C0042963(C0042963), MedDRA:10014542(Emesis), NDFRT:N0000003141(Vomiting [Disease/Finding]), HP:HP:0002013(Vomiting) +PA444477 von Hippel-Lindau Disease """Angiomatoses, Familial Cerebello-Retinal"", ""Angiomatoses, Familial Cerebelloretinal"", ""Angiomatosis, Familial Cerebello-Retinal"", ""Angiomatosis, Familial Cerebelloretinal"", ""Cerebello-Retinal Angiomatoses, Familial"", ""Cerebello-Retinal Angiomatosis, Familial"", ""Cerebelloretinal Angiomatoses, Familial"", ""Cerebelloretinal Angiomatosis, Familial"", ""Cerebroretinal angiomatosis"", ""Diseases, Lindau's"", ""Familial Cerebello Retinal Angiomatosis"", ""Familial Cerebello-Retinal Angiomatoses"", ""Familial Cerebello-Retinal Angiomatosis"", ""Familial Cerebelloretinal Angiomatoses"", ""Familial Cerebelloretinal Angiomatosis"", ""Familial cerebello-retinal angiomatosis"", ""Hippel Lindau Disease"", ""Hippel-Lindau Disease"", ""Lindau Disease"", ""Lindau' disease"", ""Lindau's Disease"", ""Lindau's Diseases"", ""Lindau's disease"", ""Lindaus Disease"", ""Syndrome, von Hippel-Lindau"", ""VHL - von Hippel-Lindau syndrome"", ""Von Hippel-Lindau syndrome"", ""von Hippel Lindau Disease"", ""von Hippel Lindau Syndrome"", ""von Hippel-Lindau Disease"", ""von Hippel-Lindau Syndrome"", ""von Hippel-Lindau syndrome""" MeSH:D006623(von Hippel-Lindau Disease), SnoMedCT:46659004(Von Hippel-Lindau syndrome), UMLS:C0019562(C0019562), MedDRA:10047716(Von Hippel-Lindau disease), NDFRT:N0000001541(von Hippel-Lindau Disease [Disease/Finding]), MONDO:MONDO:0008667(von Hippel-Lindau disease) +PA446053 von Willebrand Disease """Angiohaemophilia"", ""Angiohemophilia"", ""Angiohemophilias"", ""Constitutional thrombopathy"", ""Disease, von Willebrand"", ""Disease, von Willebrand's"", ""Factor VIII deficiency with vascular defect"", ""Hemophilia, Vascular"", ""Hemophilias, Vascular"", ""Pseudohemophilia type B"", ""Vascular Hemophilia"", ""Vascular Hemophilias"", ""Vascular haemophilia"", ""Vascular hemophilia"", ""vWD - von Willebrand's disease"", ""von Willebrand disease"", ""von Willebrand disorder"", ""von Willebrand's Disease"", ""von Willebrand's disease"", ""von Willebrand-J?rgens disease"", ""von Willebrand-Jurgens disease"", ""von Willebrands Disease""" MeSH:D014842(von Willebrand Diseases), SnoMedCT:128105004(von Willebrand disorder), UMLS:C0042974(C0042974), MedDRA:10055175(Angiohaemophilia), NDFRT:N0000003143(von Willebrand Diseases [Disease/Finding]), MONDO:MONDO:0024574(von Willebrand disease (hereditary or acquired)) +PA446054 Vulvar Diseases """Disease, Vulvar"", ""Diseases, Vulvar"", ""Vulvar Disease""" MeSH:D014845(Vulvar Diseases), SnoMedCT:5089007(Disorder of vulva), UMLS:C0042994(C0042994), MedDRA:10013287(Disorder vulva), NDFRT:N0000003145(Vulvar Diseases [Disease/Finding]), MONDO:MONDO:0002187(vulvar disease) +PA446058 Waardenburg's Syndrome """Klein Syndrome"", ""Klein Waardenburg Syndrome"", ""Klein's Syndrome"", ""Klein-Waardenburg Syndrome"", ""Kleins Syndrome"", ""Syndrome, Klein's"", ""Syndrome, Klein-Waardenburg"", ""Syndrome, Waardenburg's"", ""Syndrome, Waardenburg-Klein"", ""Waardenburg Klein Syndrome"", ""Waardenburg Syndrome"", ""Waardenburg's syndrome"", ""Waardenburg, types I and II"", ""Waardenburg-Klein Syndrome"", ""Waardenburgs Syndrome"", ""White forelock syndrome""" MeSH:D014849(Waardenburg Syndrome), SnoMedCT:47434006(Waardenburg's syndrome), UMLS:C0043008(C0043008), MedDRA:10069203(Waardenburg syndrome), NDFRT:N0000003149(Waardenburg's Syndrome [Disease/Finding]), MONDO:MONDO:0018094(Waardenburg syndrome) +PA446525 WAGR Syndrome """11p partial monosomy syndrome"", ""Aniridia-Wilms tumor association"", ""Aniridia-Wilms tumour association"", ""Complices, WAGR"", ""Contiguous Gene Syndrome, WAGR"", ""Syndrome, WAGR"", ""Syndromes, WAGR"", ""WAGR Complex"", ""WAGR Complices"", ""WAGR Contiguous Gene Syndrome"", ""WAGR Syndromes"", ""Wilms Tumor Aniridia Genitourinary Anomalies MR Syndrome"", ""Wilms Tumor-Aniridia-Genitourinary Anomalies-MR Syndrome""" MeSH:D017624(WAGR Syndrome), SnoMedCT:4135001(11p partial monosomy syndrome), UMLS:C0206115(C0206115), NDFRT:N0000003616(WAGR Syndrome [Disease/Finding]), MONDO:MONDO:0008681(WAGR syndrome) +PA444850 Waldenstrom Macroglobulinemia """Macroglobulinaemia"", ""Macroglobulinaemia NOS"", ""Macroglobulinemia"", ""Macroglobulinemia NOS"", ""Macroglobulinemia, Waldenstrom"", ""Macroglobulinemia, Waldenstrom's"", ""Macroglobulinemias"", ""Waldenstrom's Macroglobulinemia"", ""Waldenstrom's macroglobulinaemia"", ""Waldenstrom's macroglobulinemia"", ""Waldenstroms Macroglobulinemia"", ""Waldenström macroglobulinaemia"", ""Waldenström macroglobulinemia""" MeSH:D008258(Waldenstrom Macroglobulinemia), SnoMedCT:190817009(Macroglobulinemia), SnoMedCT:190818004(Munchausen's syndrome), SnoMedCT:190821002(Macroglobulinemia NOS), SnoMedCT:35562000(Waldenstrom's macroglobulinaemia), UMLS:C0024419(C0024419), MedDRA:10062831(Macroglobulinaemia), NDFRT:N0000001915(Waldenstrom Macroglobulinemia [Disease/Finding]), MONDO:MONDO:0005190(obsolete macroglobulinemia), MONDO:MONDO:0100280(Waldenstrom macroglobulinemia) +PA446061 Warts """Mosaic wart"", ""Verruca"", ""Verruca simplex"", ""Verruca, NOS"", ""Verrucas"", ""Verrucous skin lesion"", ""Verrucous skin lesion, NOS"", ""Viral warts due to papilloma virus"", ""Wart"", ""Wart, NOS""" MeSH:D014860(Warts), SnoMedCT:30285000(Verruca), SnoMedCT:57019003(Verruca vulgaris), UMLS:C0043037(C0043037), MedDRA:10010114(Common wart), NDFRT:N0000003152(Warts [Disease/Finding]), MONDO:MONDO:0001209(common wart) +PA166048875 Water-Electrolyte Imbalance Abnormal blood ion concentration, Abnormality of ion homeostasis, Electrolyte disorders, Electrolyte disturbance, Electrolyte imbalance NDFRT:N0000003154(Water-Electrolyte Imbalance) +PA446065 Wegener Granulomatosis """Granulomatosis, Wegener"", ""Granulomatosis, Wegener's"", ""Granulomatosis, Wegeners"", ""Necrotising respiratory granulomatosis"", ""Necrotizing respiratory granulomatosis"", ""Wegener Granulomatosis"", ""Wegener's Granulomatosis"", ""Wegener's granulomatosis"", ""Wegener's syndrome"", ""Wegeners Granulomatosis""" MeSH:D014890(Granulomatosis with Polyangiitis), SnoMedCT:195353004(Wegener's granulomatosis), SnoMedCT:239934006(Wegener's syndrome), UMLS:C0043092(C0043092), MedDRA:10047888(Wegener's granulomatosis), NDFRT:N0000003156(Wegener Granulomatosis [Disease/Finding]), MONDO:MONDO:0012105(granulomatosis with polyangiitis) +PA128406954 Weight gain Weight increased MeSH:D015430(Weight Gain), SnoMedCT:161831008(Weight increasing), SnoMedCT:262286000(Weight increased), SnoMedCT:8943002(Weight gain finding), UMLS:C0043094(C0043094), MedDRA:10063441(Ponderal increased), NDFRT:N0000011140(Weight Gain [Disease/Finding]), HP:HP:0004324(Increased body weight) +PA166368602 weight loss Loss of weight HP:HP:0001824(Weight loss) +PA446070 West Nile Fever """Disease due to West Nile virus"", ""Encephalitis, West Nile Fever"", ""West Nile Fever Encephalitis"", ""West Nile Fever Meningitis"", ""West Nile Fever Meningoencephalitis"", ""West Nile Fever Myelitis""" MeSH:D014901(West Nile Fever), SnoMedCT:417093003(Disease due to West Nile virus), UMLS:C0043124(C0043124), NDFRT:N0000003161(West Nile Fever [Disease/Finding]), MONDO:MONDO:0002282(West Nile fever), MONDO:MONDO:0019376(West-Nile encephalitis) +PA445524 Wheezing """Crackle"", ""Crackles"", ""Pleural Rub"", ""Pleural Rubs"", ""Rale"", ""Rales"", ""Respiratory Sound"", ""Respiratory sounds, NOS"", ""Rhonchi"", ""Rhonchus"", ""Rub, Pleural"", ""Sound, Respiratory"", ""Stridor"", ""Stridors"", ""Wheezing"", ""Wheezings""" MeSH:D012135(Respiratory Sounds), SnoMedCT:52653008(Respiratory sounds), UMLS:C0035234(C0035234), MedDRA:10064779(Breath sounds), NDFRT:N0000002601(Respiratory Sounds [Disease/Finding]), HP:HP:0030828(Wheezing) +PA165108367 White blood cell disease NOS """MeSH:D007960(Leukocyte Disorders)"", ""SnoMedCT:191369001(White blood cell disease NOS)"", ""UMLS:C0023510(C0023510)"", ""MedDRA:10013112(Disease of white blood cells, unspecified)"", ""NDFRT:N0000001831(Leukocyte Disorders [Disease/Finding])"", ""MONDO:MONDO:0004805(leukocyte disorder)""" +PA446073 Whooping Cough """Cough, Whooping"", ""Pertusses"", ""Pertussis"", ""WC - Whooping cough"", ""Whooping cough"", ""Whooping cough, NOS""" MeSH:D014917(Whooping Cough), SnoMedCT:27836007(Pertussis), UMLS:C0043167(C0043167), MedDRA:10034738(Pertussis), NDFRT:N0000003163(Whooping Cough [Disease/Finding]), MONDO:MONDO:0005077(pertussis), HP:HP:0031247(Whooping cough) +PA446794 Williams Syndrome """Contiguous Gene Syndrome, Williams"", ""Elfin Facies Syndrome"", ""Elfin Facies Syndromes"", ""Syndrome, Elfin Facies"", ""Syndrome, Williams"", ""Syndrome, Williams-Beuren"", ""Williams Beuren Syndrome"", ""Williams Contiguous Gene Syndrome"", ""Williams-Beuren Syndrome""" MeSH:D018980(Williams Syndrome), SnoMedCT:63247009(Williams syndrome), UMLS:C0175702(C0175702), MedDRA:10049644(Williams syndrome), NDFRT:N0000003884(Williams Syndrome [Disease/Finding]), MONDO:MONDO:0008678(Williams syndrome) +PA445084 Wilms Tumor """Embryonal nephroma"", ""Nephroblastoma"", ""Nephroblastoma Overexpressed Protein"", ""Nephroblastoma, NOS"", ""Nephroblastomas"", ""Nephroma, NOS"", ""Renal adenosarcoma"", ""Tumor, Wilms"", ""Tumor, Wilms'"", ""Wilm Tumor"", ""Wilm's Tumor"", ""Wilms Tumor"", ""Wilms' Tumor"", ""Wilms' tumour""" MeSH:D009396(Wilms Tumor), SnoMedCT:25081006(Nephroblastoma), SnoMedCT:302849000(Nephroblastoma), UMLS:C0027708(C0027708), MedDRA:10029145(Nephroblastoma), NDFRT:N0000171666(Wilms Tumor [Disease/Finding]), MONDO:MONDO:0006058(Wilms tumor), MONDO:MONDO:0019004(kidney Wilms tumor) +PA165108370 Wolff-Parkinson-White pattern WPW - Wolff-Parkinson-White pattern, Wolff-Parkinson-White syndrome MeSH:D014927(Wolff-Parkinson-White Syndrome), SnoMedCT:74390002(Wolff-Parkinson-White pattern), UMLS:C0043202(C0043202), MedDRA:10048015(Wolff-Parkinson-White syndrome), NDFRT:N0000003166(Wolff-Parkinson-White Syndrome [Disease/Finding]), MONDO:MONDO:0008685(Wolff-Parkinson-White syndrome) +PA446077 Wolfram Syndrome """DIDMOAD"", ""DIDMOAD syndrome"", ""Marquardt-Loriaux syndrome"", ""Syndrome, Wolfram""" MeSH:D014929(Wolfram Syndrome), SnoMedCT:70694009(Diabetes mellitus AND insipidus with optic atrophy AND deafness), UMLS:C0043207(C0043207), NDFRT:N0000003167(Wolfram Syndrome [Disease/Finding]), MONDO:MONDO:0018105(Wolfram syndrome) +PA162372765 Woodhouse-Sakati Syndrome MeSH:C536742(Woodhouse Sakati syndrome), MONDO:MONDO:0009419(Woodhouse-Sakati syndrome) +PA446079 Wounds and Injuries """Injuries"", ""Injuries and Wounds"", ""Injuries, Wounds"", ""Injury"", ""Injury and Wounds"", ""Trauma"", ""Traumas"", ""Wound"", ""Wounds"", ""Wounds and Injury"", ""Wounds, Injury""" MeSH:D014947(Wounds and Injuries), UMLS:C0043251(Wounds and Injuries [Disease/Finding]), NDFRT:N0000003169(Wounds and Injuries [Disease/Finding]), MONDO:MONDO:0021178(injury) +PA161149039 xanthinuria SnoMedCT:190919008(Xanthinuria), UMLS:C0220988(C0220988), MONDO:MONDO:0000721(xanthinuria), HP:HP:0010934(Xanthinuria) +PA446085 Xanthogranuloma, Juvenile """JXG - Juvenile xanthogranuloma"", ""Juvenile Xanthogranuloma"", ""Juvenile Xanthogranulomas"", ""Juvenile Xanthoma"", ""Juvenile Xanthomas"", ""Juvenile giant cell granuloma"", ""Juvenile xanthogranuloma"", ""Juvenile xanthoma"", ""Multiple eruptive xanthoma in infancy"", ""Naevoxanthoendothelioma"", ""Nevoxanthoendothelioma"", ""Nevoxanthoendotheliomas"", ""Xanthogranulomas, Juvenile"", ""Xanthoma multiplex"", ""Xanthoma naeviforme"", ""Xanthoma neviforme"", ""Xanthoma, Juvenile"", ""Xanthomas, Juvenile""" """MeSH:D014972(Xanthogranuloma, Juvenile)"", ""SnoMedCT:400031009(Juvenile xanthogranuloma)"", ""SnoMedCT:400204000(Multiple eruptive juvenile xanthogranuloma)"", ""UMLS:C0043324(C0043324)"", ""NDFRT:N0000003175(Xanthogranuloma, Juvenile [Disease/Finding])"", ""MONDO:MONDO:0015534(juvenile xanthogranuloma)""" +PA446087 Xeroderma Pigmentosum """Angioma pigmentosum atrophicum"", ""Atrophoderma pigmentosum"", ""Kaposi Disease"", ""Kaposi's Disease"", ""Kaposis Disease"", ""Pigmented epitheliomatosis"", ""XP - Xeroderma pigmentosum"", ""Xeroderma of Kaposi"", ""Xeroderma pigmentosum"", ""Xeroderma pigmentosum, NOS""" MeSH:D014983(Xeroderma Pigmentosum), SnoMedCT:44600005(Xeroderma pigmentosum), UMLS:C0043346(C0043346), MedDRA:10048220(Xeroderma pigmentosum), NDFRT:N0000003177(Xeroderma Pigmentosum [Disease/Finding]), MONDO:MONDO:0019600(xeroderma pigmentosum) +PA165108314 Yellow fever yellow fever virus infection MeSH:D015004(Yellow Fever), SnoMedCT:186587002(Yellow fever unspecified), UMLS:C0043395(C0043395), MedDRA:10046248(Unspecified yellow fever), NDFRT:N0000003182(Yellow Fever [Disease/Finding]), MONDO:MONDO:0020502(yellow fever) +PA446115 Zellweger Syndrome """Cerebro Hepato Renal Syndrome"", ""Cerebro-Hepato-Renal Syndrome"", ""Cerebro-Hepato-Renal Syndromes"", ""Cerebrohepatorenal Syndrome"", ""Cerebrohepatorenal Syndromes"", ""Cerebrohepatorenal syndrome"", ""Diseases, Zellweger"", ""Hyperpipecolic acidaemia"", ""Syndromes, Zellweger-Like"", ""Zellweger Disease"", ""Zellweger Diseases"", ""Zellweger Like Syndrome"", ""Zellweger syndrome"", ""Zellweger's Syndrome"", ""Zellweger-Like Syndrome"", ""Zellweger-Like Syndromes"", ""Zellwegers Syndrome""" MeSH:D015211(Zellweger Syndrome), SnoMedCT:88469006(Zellweger syndrome), UMLS:C0043459(C0043459), MedDRA:10053684(Cerebrohepatorenal syndrome), NDFRT:N0000003205(Zellweger Syndrome [Disease/Finding]), MONDO:MONDO:0019609(Zellweger spectrum disorders) +PA446095 Zollinger-Ellison Syndrome """Excessive gastrin secretion"", ""Islet Cell Tumor, Ulcerogenic"", ""Syndrome, Zollinger-Ellison"", ""Ulcerogenic Islet Cell Tumor"", ""ZE - Zollinger-Ellison syndrome"", ""Zollinger Ellison Syndrome"", ""Zollinger-Ellison syndrome""" MeSH:D015043(Zollinger-Ellison Syndrome), SnoMedCT:53132006(Zollinger-Ellison syndrome), UMLS:C0043515(C0043515), MedDRA:10042855(Syndrome Zollinger Ellison), NDFRT:N0000003185(Zollinger-Ellison Syndrome [Disease/Finding]), MONDO:MONDO:0019610(Zollinger-Ellison syndrome), HP:HP:0002044(Zollinger-Ellison syndrome) +PA446890 Zygomycosis Entomophthoramycoses, Entomophthoramycosis, Phycomycoses, Phycomycosis, Zygomycoses MONDO:MONDO:0019136(Zygomycosis) diff --git a/persistent_data/lookup_data/variants/CREATED_2025-08-05.txt b/persistent_data/lookup_data/variants/CREATED_2025-08-05.txt new file mode 100644 index 0000000..95cacee --- /dev/null +++ b/persistent_data/lookup_data/variants/CREATED_2025-08-05.txt @@ -0,0 +1 @@ +Created on 08/05/2025 at 00:55:01 PDT. diff --git a/persistent_data/lookup_data/variants/LICENSE.txt b/persistent_data/lookup_data/variants/LICENSE.txt new file mode 100644 index 0000000..e1c1987 --- /dev/null +++ b/persistent_data/lookup_data/variants/LICENSE.txt @@ -0,0 +1,8 @@ +This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/ or send a letter to Creative Commons, PO Box 1866, Mountain View, CA 94042, USA. + +Some requirements of this license include: + +1. __Attribution__: You must give appropriate credit to ClinPGx (https://www.clinpgx.org/page/citingClinpgx), provide a link to this license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests ClinPGx endorses you or approves of your use. +2. __ShareAlike__: If you alter, amend, reuse or otherwise change ClinPGx data you agree that if you distribute such product, all recipients shall first agree to be subject to this license. Proof of such agreement shall be made available to ClinPGx. Under no circumstances can ClinPGx data be sold for other's private or commercial use. + +Read the ClinPGx data usage policy (https://www.clinpgx.org/page/dataUsagePolicy) for more details. diff --git a/persistent_data/lookup_data/variants/README.pdf b/persistent_data/lookup_data/variants/README.pdf new file mode 100644 index 0000000..04aee3a Binary files /dev/null and b/persistent_data/lookup_data/variants/README.pdf differ diff --git a/persistent_data/lookup_data/variants/VERSIONS.txt b/persistent_data/lookup_data/variants/VERSIONS.txt new file mode 100644 index 0000000..cba8589 --- /dev/null +++ b/persistent_data/lookup_data/variants/VERSIONS.txt @@ -0,0 +1,12 @@ +dbSNP = 147 + source for variant and residue positions and alleles + +Human genome reference sequence = GRCh38 + source for gene locations + +NCBI Gene = 105 + source for other gene information + +HapMap = 2010-08_phaseII+III + source for variant allele frequency data + diff --git a/persistent_data/lookup_data/variants/variants.tsv b/persistent_data/lookup_data/variants/variants.tsv new file mode 100644 index 0000000..8ead87e --- /dev/null +++ b/persistent_data/lookup_data/variants/variants.tsv @@ -0,0 +1,7092 @@ +Variant ID Variant Name Gene IDs Gene Symbols Location Variant Annotation count Clinical Annotation count Level 1/2 Clinical Annotation count Guideline Annotation count Label Annotation count Synonyms +PA166156302 rs1000002 PA395 ABCC5 NC_000003.12:183917980 1 0 0 0 0 rs17623022, NG_047115.1:g.105031=, NC_000003.12:g.183917980C>T, rs1000002, 1000002, rs60664316, 386508637, NC_000003.12:g.183917980=, NG_047115.1:g.105031G>A, 17623022, rs386508637, NC_000003.11:g.183635768C>T, NC_000003.11:g.183635768=, 60664316 +PA166156746 rs1000113 PA142671652 IRGM NC_000005.10:150860514 1 0 0 0 0 1000113, NC_000005.9:g.150240076=, NC_000005.9:g.150240076C>T, 58108943, rs1000113, NC_000005.10:g.150860514=, rs58108943, NG_027809.2:g.18992=, NG_027809.2:g.18992C>T, NC_000005.10:g.150860514C>T, XM_011537641.1:c.531+11860C>T +PA166195421 rs10006452 PA361 UGT2B7 NC_000004.12:69112090 1 0 0 0 0 10006452, NC_000004.12:g.69112090T>A, 58882597, rs10006452, NC_000004.11:g.69977808T>C, NC_000004.11:g.69977808T>A, NC_000004.11:g.69977808=, NC_000004.12:g.69112090=, NC_000004.12:g.69112090T>C +PA166177121 rs10007051 NC_000004.12:129244309 1 1 0 0 0 NC_000004.11:g.130165464=, NC_000004.12:g.129244309=, rs10007051, NC_000004.12:g.129244309C>T, NC_000004.11:g.130165464C>T, 10007051 +PA166156636 rs10008257 NC_000004.12:94435177 2 0 0 0 0 10008257, NC_000004.12:g.94435177=, rs10008257, rs60883953, NC_000004.11:g.95356328G>A, 60883953, NC_000004.11:g.95356328=, NC_000004.12:g.94435177G>A +PA166165401 rs1000940 PA134884097 RABEP1 NC_000017.11:5379957 1 1 0 0 0 rs1000940, 1000940, NC_000017.10:g.5283252A>C, NC_000017.11:g.5379957A>C, NC_000017.10:g.5283252A>G, 386508764, 17707839, NC_000017.11:g.5379957A>T, NC_000017.10:g.5283252A>T, NC_000017.10:g.5283252=, 60431179, NC_000017.11:g.5379957A>G, NC_000017.11:g.5379957= +PA166154306 rs1001179 PA26099 CAT NC_000011.10:34438684 4 1 0 0 0 NM_001752.3:c.-330C>T, NC_000011.9:g.34460231=, NC_000011.10:g.34438684C>T, 1001179, 386508782, rs1001179, rs60285691, 36224099, rs36224099, NG_013339.1:g.4760=, NC_000011.9:g.34460231C>T, NG_013339.2:g.4760C>T, NG_013339.1:g.4760C>T, NC_000011.10:g.34438684=, rs17879971, 60285691, NG_013339.2:g.4760=, rs386508782, 17879971 +PA166156637 rs10011796 PA390 ABCG2 NC_000004.12:88169725 4 1 0 0 0 NM_001257386.1:c.-19-29711A>G, NG_032067.2:g.66598=, rs61380906, NC_000004.12:g.88169725=, XM_005263355.2:c.-19-29711A>G, XM_011532420.1:c.-19-29711A>G, 61380906, rs10011796, NG_032067.2:g.66598A>C, NC_000004.12:g.88169725T>C, NC_000004.11:g.89090877T>C, 10011796, NC_000004.12:g.88169725T>G, XM_005263355.1:c.-19-29711A>G, NC_000004.11:g.89090877T>G, NC_000004.11:g.89090877=, NG_032067.2:g.66598A>G +PA166155586 rs10012 PA27094 CYP1B1 NC_000002.12:38075247 2 1 0 0 0 rs3172104, NG_008386.2:g.5855C>G, 58311708, NG_008386.2:g.5855=, 3172104, 17021919, NC_000002.11:g.38302390=, NC_000002.12:g.38075247=, rs58311708, NP_000095.2:p.Arg48=, NM_000104.3:c.142C>G, rs17021919, 10012, NC_000002.12:g.38075247G>C, XM_011533236.1:c.-140G>C, rs10012, NP_000095.2:p.Arg48Gly, NC_000002.11:g.38302390G>C +PA166195102 rs1001945 PA238 MAPT NC_000017.11:45928455 1 0 0 0 0 117823740, 61006079, NC_000017.10:g.44005821C>G, NC_000017.11:g.45928455C>G, NG_007398.2:g.38993=, NG_007398.2:g.38993C>G, 61434469, NG_007398.1:g.39026=, rs1001945, 1001945, NC_000017.11:g.45928455=, 56594856, NC_000017.10:g.44005821=, NG_007398.1:g.39026C>G, 116654104 +PA166307524 rs1002012563 PA390 ABCG2 NC_000004.12:88097565 1 0 0 0 0 1002012563, NC_000004.12:g.88097565G>C, NC_000004.11:g.89018717G>T, NP_004818.2:p.Thr512=, NC_000004.11:g.89018717=, NG_032067.2:g.138758C>G, NC_000004.12:g.88097565=, NP_004818.2:p.Thr512Asn, NG_032067.2:g.138758C>A, NC_000004.12:g.88097565G>T, NC_000004.11:g.89018717G>C, NP_004818.2:p.Thr512Ser, rs1002012563, NG_032067.2:g.138758= +PA166165350 rs10024471 NC_000004.12:125573782 1 0 0 0 0 NC_000004.12:g.125573782A>C, NC_000004.12:g.125573782A>T, rs10024471, NC_000004.12:g.125573782A>G, NC_000004.11:g.126494937A>T, NC_000004.12:g.125573782=, NC_000004.11:g.126494937A>C, 61183970, NC_000004.11:g.126494937A>G, 10024471, NC_000004.11:g.126494937= +PA166180083 rs10028494 PA361 UGT2B7 NC_000004.12:69105219 2 1 0 0 0 10028494, NC_000004.11:g.69970937=, NC_000004.11:g.69970937A>T, rs10028494, NC_000004.12:g.69105219A>C, NC_000004.12:g.69105219=, NC_000004.12:g.69105219A>T, NC_000004.11:g.69970937A>C +PA166178380 rs1002976 NC_000004.12:176627447 1 0 0 0 0 rs1002976, 1002976, 386508992, NC_000004.11:g.177548598=, NC_000004.11:g.177548598C>T, 56533996, 59323107, NC_000004.12:g.176627447=, NC_000004.12:g.176627447C>A, NC_000004.11:g.177548598C>G, NC_000004.12:g.176627447C>G, NC_000004.11:g.177548598C>A, NC_000004.12:g.176627447C>T +PA166156638 rs10030044 NC_000004.12:156090771 1 1 0 0 0 10030044, NC_000004.11:g.157011923G>A, NC_000004.12:g.156090771G>T, rs58720270, 58720270, NC_000004.12:g.156090771G>C, rs10030044, NC_000004.11:g.157011923=, NC_000004.12:g.156090771G>A, NC_000004.11:g.157011923G>T, NC_000004.12:g.156090771=, NC_000004.11:g.157011923G>C +PA166156639 rs10033464 NC_000004.12:110799605 3 0 0 0 0 NC_000004.11:g.111720761=, NC_000004.12:g.110799605T>G, 10033464, rs10033464, rs58654210, NC_000004.12:g.110799605=, NC_000004.11:g.111720761T>G, 58654210, 45629363, rs45629363 +PA166156640 rs10033900 PA29641 CFI NC_000004.12:109737911 1 0 0 0 0 NC_000004.12:g.109737911T>C, NC_000004.11:g.110659067=, XM_011531920.1:c.1558+4580A>G, 17537594, rs17537594, NC_000004.12:g.109737911=, NC_000004.11:g.110659067T>C, 58846475, 10033900, rs58846475, rs10033900 +PA166156641 rs10034692 PA24933 AREG NC_000004.12:74554070 1 0 0 0 0 NC_000004.11:g.75419787A>G, NC_000004.12:g.74554070A>G, rs61009756, 61009756, NC_000004.12:g.74554070=, rs10034692, 10034692, NC_000004.11:g.75419787=, NC_000004.12:g.74554070A>T, NW_003571035.1:g.37578A>G, NC_000004.11:g.75419787A>T +PA166156852 rs10035440 PA144596503 C5orf22 NC_000005.10:31539356 1 0 0 0 0 rs56434987, XM_011514062.1:c.900+667T>C, 59453111, NM_018356.2:c.807+667T>C, NR_134298.1:n.710+667T>C, NC_000005.10:g.31539356=, rs13155198, 10035440, rs58924525, NC_000005.9:g.31539463=, XR_241704.1:n.934+667T>C, XM_006714479.1:c.555+667T>C, 56434987, rs59453111, NC_000005.10:g.31539356T>C, XM_006714480.2:c.12+667T>C, 58924525, rs10035440, XM_005248319.1:c.12+667T>C, 13155198, XM_005248319.2:c.12+667T>C, NC_000005.9:g.31539463T>C +PA166156853 rs10036156 PA28503 GABRP NC_000005.10:170788634 1 1 0 0 0 XM_005265874.1:c.19T>C, XP_005265928.1:p.Leu7=, NP_055026.1:p.Leu7Val, NC_000005.10:g.170788634T>C, NC_000005.10:g.170788634T>G, 57333818, NP_055026.1:p.Leu7=, NC_000005.9:g.170215638=, NM_014211.2:c.19T>C, NP_001278914.1:p.Leu7=, XM_011534503.1:c.19T>C, XP_011532807.1:p.Leu7=, XM_005265872.1:c.-100T>C, XM_011534505.1:c.19T>C, XP_005265931.1:p.Leu7=, NG_052803.1:g.9916=, NG_052803.1:g.9916T>C, XP_011532804.1:p.Leu7=, NG_052803.1:g.9916T>G, NC_000005.10:g.170788634=, NC_000005.9:g.170215638T>C, XM_005265873.1:c.19T>C, NC_000005.9:g.170215638T>G, XM_011534506.1:c.19T>C, XM_005265871.1:c.19T>C, 10036156, XP_011532806.1:p.Leu7=, XM_011534504.1:c.19T>C, XP_005265930.1:p.Leu7=, XP_011532808.1:p.Leu7=, XM_011534502.1:c.19T>C, XP_011532805.1:p.Leu7=, rs10036156, rs57333818, NM_001291985.1:c.19T>C, XM_005265872.2:c.-100T>C +PA166154307 rs1003641 NC_000011.10:113402914 1 0 0 0 0 NC_000011.10:g.113402914A>G, rs2587549, NC_000011.10:g.113402914A>T, rs1003641, NC_000011.9:g.113273636A>G, 1003641, rs61353280, NC_000011.10:g.113402914=, NC_000011.9:g.113273636A>T, 61353280, 2587549, NC_000011.9:g.113273636= +PA166169977 rs10040363 PA37423 XRCC4 NC_000005.10:83177826 2 1 0 0 0 10040363, rs10040363, NC_000005.10:g.83177826A>G, NC_000005.10:g.83177826=, NC_000005.9:g.82473645A>G, 58344481, NG_047086.1:g.105418=, NG_047086.1:g.105418A>G, NC_000005.9:g.82473645= +PA166156855 rs10042486 PA192 HTR1A NC_000005.10:63965502 3 2 0 0 0 10042486, NC_000005.9:g.63261329C>T, NG_032816.1:g.1791G>A, rs10042486, NC_000005.9:g.63261329=, NG_032816.1:g.1791=, NC_000005.10:g.63965502C>T, NC_000005.10:g.63965502= +PA166185413 rs1004323 PA33329 PIP5K1C NC_000019.10:3643095 1 0 0 0 0 NC_000019.10:g.3643095=, NC_000019.9:g.3643093G>A, NG_012161.1:g.62353C>T, rs1004323, 1004323, NC_000019.10:g.3643095G>C, NG_012161.2:g.62353C>G, NC_000019.10:g.3643095G>A, NC_000019.9:g.3643093G>C, NG_012161.1:g.62353=, NG_012161.2:g.62353C>T, NG_012161.1:g.62353C>G, NG_012161.2:g.62353=, 61444021, NC_000019.9:g.3643093= +PA166154837 rs10046 PA27091 CYP19A1 NC_000015.10:51210789 3 1 0 0 0 rs59469642, 3169030, rs3169030, 386509163, NC_000015.10:g.51210789=, NG_007982.1:g.132810=, XM_005254191.1:c.*19C>T, NG_007982.1:g.132810C>T, XR_932222.1:n.99-67194G>A, 59469642, NC_000015.9:g.51502986G>A, NC_000015.10:g.51210789G>A, NM_031226.2:c.*19C>T, rs386509163, XM_005254192.1:c.*19C>T, 10046, NM_000103.3:c.*19C>T, XM_005254190.1:c.*19C>T, NC_000015.9:g.51502986=, rs10046 +PA166155243 rs10048158 NC_000017.11:66240200 1 0 0 0 0 rs17691108, 17691108, NC_000017.10:g.64236318=, rs10048158, NC_000017.10:g.64236318T>A, NC_000017.10:g.64236318T>C, 10048158, rs59335053, NC_000017.11:g.66240200=, NC_000017.11:g.66240200T>A, 59335053, NC_000017.11:g.66240200T>C +PA166156436 rs10049380 PA29959,PA363 ITGB5,UMPS NC_000003.12:124768596 1 0 0 0 0 NC_000003.12:g.124768596T>C, NC_000003.12:g.124768596=, rs10049380, NM_002213.4:c.2017+417A>G, 10049380, NC_000003.11:g.124487443=, 59662485, NC_000003.11:g.124487443T>C, XM_005247436.2:c.1927+417A>G, XM_005247436.1:c.1927+417A>G, XM_006713630.2:c.1882+417A>G, rs59662485 +PA166156967 rs1005230 PA37302 VEGFA NC_000006.12:43768759 1 0 0 0 0 NM_001317010.1:c.-2488T>C, NC_000006.11:g.43736496=, NM_001204385.1:c.-1948T>C, NM_001171622.1:c.-1948T>C, NG_008732.1:g.3544T>C, rs2782257, rs61708505, 2782257, 36208052, NG_008732.1:g.3544T>A, NM_001025370.2:c.-1948T>C, NC_000006.11:g.43736496T>A, NM_001171623.1:c.-2488T>C, rs36208052, NM_003376.5:c.-1948T>C, NC_000006.12:g.43768759=, 1005230, rs1005230, NM_001025366.2:c.-1948T>C, NM_001025367.2:c.-1948T>C, NM_001025368.2:c.-1948T>C, NM_001025369.2:c.-1948T>C, NC_000006.11:g.43736496T>C, NM_001171630.1:c.-2488T>C, NM_001033756.2:c.-1948T>C, NM_001171624.1:c.-2488T>C, NC_000006.11:g.43736496T>G, NC_000006.12:g.43768759T>C, NM_001171626.1:c.-2488T>C, NM_001204384.1:c.-2488T>C, NM_001171625.1:c.-2488T>C, NG_008732.1:g.3544=, NC_000006.12:g.43768759T>A, NG_008732.1:g.3544T>G, NC_000006.12:g.43768759T>G, NM_001171629.1:c.-2488T>C, NM_001171627.1:c.-2488T>C, 61708505, NM_001171628.1:c.-2488T>C +PA166176620 rs10052957 PA181 NR3C1 NC_000005.10:143407136 1 0 0 0 0 10052957, 59731137, NG_009062.1:g.33377=, NC_000005.10:g.143407136=, NG_009062.1:g.33377C>T, rs10052957, NC_000005.9:g.142786701G>A, NC_000005.10:g.143407136G>A, NC_000005.9:g.142786701= +PA166169847 rs10052999 PA25921 C6 NC_000005.10:41165642 2 1 0 0 0 NC_000005.10:g.41165642C>T, NG_011582.1:g.100797G>C, NC_000005.9:g.41165744C>G, NG_011582.1:g.100797G>A, 10052999, NG_011582.1:g.100797=, NC_000005.10:g.41165642C>G, NC_000005.9:g.41165744C>T, rs10052999, NC_000005.10:g.41165642=, NC_000005.9:g.41165744= +PA166154308 rs1005510 PA35029 SERPING1 NC_000011.10:57599749 1 0 0 0 0 XM_005274204.1:c.52-115C>T, NM_001032295.1:c.52-130C>T, 386509256, NC_000011.9:g.57367222=, NC_000011.10:g.57599749=, NC_000011.9:g.57367222C>A, NC_000011.10:g.57599749C>A, 1005510, NC_000011.10:g.57599749C>T, NG_009625.1:g.7196=, 17661039, NG_009625.1:g.7196C>T, 57537124, NG_009625.1:g.7196C>A, NC_000011.9:g.57367222C>T, rs17661039, XM_005274205.1:c.52-130C>T, rs1005510, NM_000062.2:c.52-130C>T, rs386509256, rs57537124 +PA166183982 rs10055255 PA26873 CRHBP NC_000005.10:76968168 1 1 0 0 0 10055255, rs10055255, NC_000005.10:g.76968168A>T, NC_000005.10:g.76968168=, NC_000005.9:g.76263993=, NC_000005.9:g.76263993A>T +PA166156856 rs10061133 PA145149217,PA164722718,PA164722719 CDC20B,MIR449A,MIR449B NC_000005.10:55170716 1 0 0 0 0 NC_000005.10:g.55170716=, NR_029960.1:n.-94T>C, XM_011543218.1:c.126+1872T>C, rs10061133, NM_152623.2:c.126+1872T>C, XM_005248450.1:c.126+1872T>C, NC_000005.9:g.54466544A>G, NM_001170402.1:c.126+1872T>C, NC_000005.9:g.54466544=, NM_001145734.2:c.126+1872T>C, 10061133, NC_000005.10:g.55170716A>G, NR_030387.1:n.27T>C +PA166183983 rs10062367 PA26873 CRHBP NC_000005.10:76968529 1 0 0 0 0 61695007, NC_000005.9:g.76264354=, rs10062367, 10062367, NC_000005.9:g.76264354G>A, NC_000005.10:g.76968529=, NC_000005.10:g.76968529G>A +PA166233881 rs10064525 PA311 SLC6A3 NC_000005.10:1392606 4 0 0 0 0 57515898, NG_015885.1:g.57823A>C, NC_000005.9:g.1392721=, NG_015885.1:g.57823=, 10064525, rs10064525, NC_000005.10:g.1392606T>G, NC_000005.9:g.1392721T>G, NC_000005.10:g.1392606= +PA166169473 rs10065756 PA36055 SPARC NC_000005.10:151679385 1 0 0 0 0 NC_000005.9:g.151058946C>A, NG_042174.1:g.12670G>A, NC_000005.10:g.151679385=, 10065756, NC_000005.9:g.151058946C>T, NG_042174.1:g.12670G>T, rs10065756, NG_042174.1:g.12670=, NC_000005.9:g.151058946=, NC_000005.10:g.151679385C>A, NC_000005.10:g.151679385C>T +PA166154507 rs1006737 PA83 CACNA1C NC_000012.12:2236129 1 1 0 0 0 NM_001129832.1:c.477+115699G>A, XM_011521023.1:c.477+115699G>A, XM_005253777.1:c.486+115699G>A, XM_005253785.1:c.486+115699G>A, NM_001167624.2:c.477+115699G>A, NM_001129840.1:c.477+115699G>A, NM_001129837.1:c.477+115699G>A, XM_005253772.1:c.486+115699G>A, XM_005253769.1:c.486+115699G>A, NM_001129844.1:c.477+115699G>A, XM_011521020.1:c.567+115699G>A, XM_011521018.1:c.-642+115699G>A, rs58172614, NC_000012.12:g.2236129G>A, XM_005253770.1:c.486+115699G>A, XM_005253780.1:c.486+115699G>A, XM_005253786.1:c.486+115699G>A, XM_005253776.1:c.486+115699G>A, NM_001129831.1:c.477+115699G>A, NM_001129841.1:c.477+115699G>A, NM_001129833.1:c.477+115699G>A, NM_001129843.1:c.477+115699G>A, XM_011521021.1:c.477+115699G>A, rs1006737, NM_001129839.1:c.477+115699G>A, XM_005253768.1:c.486+115699G>A, NM_001129829.1:c.477+115699G>A, XM_005253778.1:c.486+115699G>A, NG_008801.2:g.270344G>A, XM_011521022.1:c.477+115699G>A, rs60975541, XM_006719017.1:c.567+115699G>A, NM_000719.6:c.477+115699G>A, NM_001129838.1:c.477+115699G>A, XM_005253787.1:c.486+115699G>A, NC_000012.11:g.2345295G>A, NM_001129842.1:c.477+115699G>A, XM_005253781.1:c.486+115699G>A, XM_005253771.1:c.486+115699G>A, XM_005253767.1:c.486+115699G>A, 58172614, XM_005253782.1:c.486+115699G>A, NM_001167625.1:c.477+115699G>A, XM_005253775.1:c.486+115699G>A, NM_001129827.1:c.477+115699G>A, NM_001129830.1:c.477+115699G>A, NM_001129834.1:c.477+115699G>A, XM_005253766.1:c.486+115699G>A, XM_005253779.1:c.486+115699G>A, NM_199460.3:c.477+115699G>A, XM_005253783.1:c.486+115699G>A, 1006737, XM_005253773.1:c.486+115699G>A, NM_001129846.1:c.477+115699G>A, NM_001129830.2:c.477+115699G>A, NM_001129836.1:c.477+115699G>A, XM_005253765.1:c.567+115699G>A, NC_000012.12:g.2236129=, NM_001167623.1:c.477+115699G>A, XM_005253774.1:c.486+115699G>A, XM_005253784.1:c.486+115699G>A, 60975541, NG_008801.2:g.270344=, NM_001129835.1:c.477+115699G>A, NC_000012.11:g.2345295= +PA166156857 rs10068980 PA28489 GABRA1 NC_000005.10:161860841 1 0 0 0 0 NM_000806.5:c.188-4880G>A, NC_000005.10:g.161860841G>A, NM_001127643.1:c.188-4880G>A, NG_011548.1:g.18651=, 61304955, NC_000005.9:g.161287847=, NC_000005.10:g.161860841=, rs10068980, NM_001127644.1:c.188-4880G>A, NM_001127645.1:c.188-4880G>A, NC_000005.9:g.161287847G>A, NG_011548.1:g.18651G>A, rs61304955, NM_001127648.1:c.188-4880G>A, 10068980 +PA166156858 rs10070381 NC_000005.10:84945793 1 0 0 0 0 NC_000005.10:g.84945793=, NC_000005.10:g.84945793T>C, NC_000005.9:g.84241611T>C, NC_000005.9:g.84241611=, 10070381, rs10070381 +PA166156859 rs10072026 PA143,PA31134 DHFR,MSH3 NC_000005.10:80649321 1 0 0 0 0 NR_110936.1:n.684+68A>G, NC_000005.9:g.79945140T>C, 10072026, NC_000005.10:g.80649321T>C, XM_005248456.1:c.86+68A>G, NM_001290357.1:c.242+68A>G, NG_023304.1:g.10661=, NM_001290354.1:c.86+68A>G, rs59805063, rs10072026, NC_000005.9:g.79945140=, NG_023304.1:g.10661A>G, 59805063, XM_005248455.1:c.131+68A>G, NM_000791.3:c.242+68A>G, NC_000005.10:g.80649321= +PA166156060 rs1007888 PA183 GSTT1 NC_000022.11:23898914 1 0 0 0 0 NC_000022.10:g.24241101=, rs1007888, 1007888, 60338167, 386509558, NR_038911.1:n.17G>A, rs386509558, NC_000022.11:g.23898914C>T, NT_187633.1:g.135276C>T, NC_000022.10:g.24241101C>T, XR_244371.1:n.192G>A, rs60338167, NC_000022.11:g.23898914= +PA166156860 rs10085144 NC_000005.10:84944559 1 0 0 0 0 NC_000005.10:g.84944559A>G, NC_000005.9:g.84240377=, 10085144, NC_000005.10:g.84944559=, rs10085144, 59628123, NC_000005.9:g.84240377A>G, rs59628123 +PA166154854 rs1008805 PA27091 CYP19A1 NC_000015.10:51257402 3 2 0 0 0 rs59338666, XR_932222.1:n.99-20581G>A, NC_000015.9:g.51549599=, NM_031226.2:c.-38-14452C>T, 386509658, NC_000015.9:g.51549599G>A, rs1008805, XM_005254191.1:c.-38-14452C>T, 1008805, NC_000015.10:g.51257402=, NG_007982.1:g.86197=, rs386509658, 59338666, NM_000103.3:c.-38-14452C>T, NG_007982.1:g.86197C>T, NC_000015.10:g.51257402G>A +PA166155276 rs1008899 PA31534 NEDD4L NC_000018.10:58195615 3 0 0 0 0 XM_005266669.1:c.-242+29754G>A, NM_001144969.1:c.98+29754G>A, NM_001144967.2:c.122+29754G>A, NM_001243960.1:c.122+29754G>A, XR_935528.1:n.96C>T, XM_006722426.2:c.122+29754G>A, XR_935527.1:n.96C>T, XM_006722430.2:c.-360G>A, NM_001144968.1:c.98+29754G>A, NM_015277.5:c.122+29754G>A, XR_935530.1:n.82C>T, NC_000018.9:g.55862847=, NC_000018.10:g.58195615G>A, NC_000018.9:g.55862847G>A, NG_029954.1:g.156238G>A, NM_001144971.1:c.-320+29754G>A, NM_001144964.1:c.-242+29754G>A, XM_005266672.1:c.-360G>A, NG_029954.1:g.156238=, NM_001144970.2:c.-360G>A, 59250638, rs1008899, 1008899, NC_000018.10:g.58195615=, XM_005266666.1:c.122+29754G>A, XM_006722428.2:c.122+29754G>A, rs59250638, XM_011525887.1:c.98+29754G>A, XR_935529.1:n.62C>T, XM_005266670.1:c.-360G>A, XM_005266668.1:c.-242+29754G>A, NM_001144965.1:c.-242+29754G>A +PA166157629 rs10090884 PA28587 GATA4 NC_000008.11:11742061 1 0 0 0 0 XM_006716249.2:c.-5-6855A>C, NM_001308093.1:c.617-6855A>C, XM_005272387.1:c.-5-6855A>C, 10090884, NM_002052.4:c.617-6858A>C, XM_011543817.1:c.617-6855A>C, NC_000008.11:g.11742061=, XM_006716248.1:c.617-6855A>C, NG_008177.2:g.70143A>C, XM_005272384.1:c.617-6855A>C, NG_053896.1:g.2887A>C, XM_005272386.1:c.617-6855A>C, NG_008177.2:g.70143=, NG_053896.1:g.2887A>G, rs60444879, NC_000008.11:g.11742061A>C, NC_000008.10:g.11599570=, rs10090884, NC_000008.11:g.11742061A>G, NC_000008.10:g.11599570A>G, XM_005272385.3:c.617-6855A>C, XM_011543818.1:c.617-6855A>C, NC_000008.10:g.11599570A>C, NG_008177.2:g.70143A>G, NG_053896.1:g.2887=, NM_001308094.1:c.-5-6855A>C, 60444879, XM_005272385.1:c.617-6855A>C +PA166170286 rs10102851 PA24792,PA30701 ANGPT2,MCPH1 NC_000008.11:6516544 1 0 0 0 0 rs10102851, NG_029483.1:g.51720T>C, NC_000008.10:g.6374065=, 60720413, NC_000008.11:g.6516544A>G, NG_016619.2:g.114953A>G, NG_029483.1:g.51720=, NC_000008.11:g.6516544=, NC_000008.10:g.6374065A>G, NG_016619.2:g.114953=, 10102851 +PA166177315 rs10105409 PA28587 GATA4 NC_000008.11:11714579 1 0 0 0 0 NG_008177.2:g.42661=, NG_008177.2:g.42661T>C, 58479450, rs10105409, NC_000008.10:g.11572088=, 10105409, NC_000008.11:g.11714579T>C, NC_000008.10:g.11572088T>C, NC_000008.11:g.11714579= +PA166157698 rs10106 PA167 FPGS NC_000009.12:127813796 5 0 0 0 0 XR_242581.2:n.1853T>C, NC_000009.11:g.130576075T>G, 3181756, rs3181756, NG_009551.1:g.45973A>T, NC_000009.11:g.130576075T>C, NR_110170.1:n.2004T>C, XR_242582.1:n.1362-412T>C, NC_000009.11:g.130576075T>A, NM_004957.5:c.*192T>C, rs10106, XR_242581.1:n.1834T>C, NC_000009.12:g.127813796T>C, XM_005251864.1:c.1484-412T>C, NC_000009.12:g.127813796T>A, NM_001018078.2:c.*192T>C, rs16930111, NC_000009.12:g.127813796=, NG_009551.1:g.45973=, NG_023245.1:g.15922=, XR_242582.2:n.1381-412T>C, NG_023245.1:g.15922T>A, NG_023245.1:g.15922T>C, NG_023245.1:g.15922T>G, XM_005251863.1:c.*192T>C, 10106, 16930111, XM_005251865.1:c.*192T>C, NM_001288803.1:c.*192T>C, XM_005251864.2:c.1484-412T>C, XM_011518437.1:c.*192T>C, NG_009551.1:g.45973A>C, XM_011518439.1:c.*192T>C, NC_000009.11:g.130576075=, NG_009551.1:g.45973A>G, NC_000009.12:g.127813796T>G, XM_011518438.1:c.*192T>C +PA166157858 rs1010978 PA35860 SLC25A14 NC_000023.11:130345486 1 0 0 0 0 XR_244526.1:n.323+211T>C, XR_244527.1:n.323+211T>C, XM_011531402.1:c.196+211T>C, XM_005262487.1:c.160+211T>C, XM_005262489.1:c.15-3765T>C, XM_011531403.1:c.64+211T>C, XM_005262485.1:c.253+211T>C, rs17268202, 17268202, NG_012850.2:g.10414=, NM_022810.1:c.160+211T>C, XM_005262489.3:c.15-3765T>C, NG_012850.2:g.10414T>C, XM_011531405.1:c.64+211T>C, NC_000023.11:g.130345486=, rs1010978, NG_012850.2:g.10414T>G, NC_000023.10:g.129479460T>C, NM_001282195.1:c.169+211T>C, NM_001282198.1:c.64+211T>C, 1010978, NC_000023.10:g.129479460T>G, NR_104107.1:n.183+211T>C, NG_012850.1:g.10414T>C, NG_012850.1:g.10414T>G, NM_003951.2:c.169+211T>C, NM_001282196.1:c.160+211T>C, NC_000023.10:g.129479460=, XM_005262488.1:c.64+211T>C, NC_000023.11:g.130345486T>C, XM_011531404.1:c.160+211T>C, NG_012850.1:g.10414=, XM_005262486.1:c.169+211T>C, NC_000023.11:g.130345486T>G, NM_001282197.1:c.160+211T>C +PA166260384 rs10111937 PA31943 OPRK1 NC_000008.11:53247532 2 1 0 0 0 10111937, NC_000008.10:g.54160092=, rs10111937, NC_000008.10:g.54160092C>T, NC_000008.11:g.53247532=, NC_000008.11:g.53247532C>T +PA166160169 rs1011219 PA162388384 FERMT3 NC_000011.10:64205924 1 0 0 0 0 NC_000011.10:g.64205924G>T, NG_016360.1:g.4245G>A, NC_000011.9:g.63973396=, NC_000011.10:g.64205924=, NC_000011.9:g.63973396G>T, 56840765, NC_000011.9:g.63973396G>A, NG_016360.1:g.4245G>T, 17462951, NC_000011.10:g.64205924G>A, 1011219, NG_016360.1:g.4245=, rs1011219 +PA166177317 rs10112596 PA28587 GATA4 NC_000008.11:11722293 1 0 0 0 0 NC_000008.11:g.11722293A>C, NG_008177.2:g.50375A>T, NC_000008.10:g.11579802A>C, NG_008177.2:g.50375=, NG_008177.2:g.50375A>G, NC_000008.11:g.11722293=, NC_000008.11:g.11722293A>T, NC_000008.10:g.11579802=, 10112596, NG_008177.2:g.50375A>C, NC_000008.10:g.11579802A>T, NC_000008.10:g.11579802A>G, 60409979, NC_000008.11:g.11722293A>G, rs10112596 +PA166156968 rs1011313 PA27512 DTNBP1 NC_000006.12:15633201 1 0 0 0 0 XM_005249447.1:c.183+4543A>G, XM_011514936.1:c.132+4543A>G, NM_183040.2:c.222+4543A>G, NG_009309.1:g.34840A>G, NM_001271669.1:c.117+4543A>G, 74291082, NM_001271667.1:c.-22+4543A>G, rs1011313, NC_000006.11:g.15633432T>C, 60265531, NG_009309.1:g.34840=, NC_000006.12:g.15633201=, NC_000006.11:g.15633432T>A, 1011313, NM_001271668.1:c.171+4543A>G, NM_032122.4:c.222+4543A>G, NC_000006.12:g.15633201T>C, NR_036448.1:n.550+4543A>G, XM_005249447.3:c.183+4543A>G, NC_000006.12:g.15633201T>A, NG_009309.1:g.34840A>T, rs60265531, rs74291082, NC_000006.11:g.15633432= +PA166295621 rs1011784 PA25978,PA164722614,PA164722615,PA164722622,PA165585853 AOPEP,MIR23B,MIR24-1,MIR27B,MIR3074 NC_000009.12:95085732 2 0 0 0 0 NC_000009.11:g.97848014G>C, NG_027833.1:g.364064=, NG_027833.1:g.364064G>C, NC_000009.12:g.95085732G>T, NG_027833.1:g.364064G>A, 3739750, NC_000009.11:g.97848014=, NC_000009.12:g.95085732=, NC_000009.11:g.97848014G>T, NC_000009.12:g.95085732G>A, NG_027833.1:g.364064G>T, NC_000009.12:g.95085732G>C, rs1011784, 1011784, NC_000009.11:g.97848014G>A +PA166157800 rs10118746 PA38725 KCNT1 NC_000009.12:135761806 1 0 0 0 0 rs10118746, XM_011518878.1:c.1179+1947A>G, XM_011518880.1:c.936+1947A>G, NM_020822.2:c.1035+1947A>G, NC_000009.11:g.138653652A>G, 59456567, NC_000009.11:g.138653652=, NG_033070.1:g.64622A>G, 10118746, XM_011518879.1:c.1170+1947A>G, rs59456567, XM_011518877.1:c.1170+1947A>G, XM_011518881.1:c.525+1947A>G, XM_005263407.1:c.1035+1947A>G, NM_001272003.1:c.900+1947A>G, NC_000009.12:g.135761806A>G, NC_000009.12:g.135761806=, NG_033070.1:g.64622= +PA166154691 rs1012053 PA27315 DGKH NC_000013.11:42079301 1 0 0 0 0 rs1750010, 1750010, rs59812619, NG_029191.3:g.44266=, NM_001204504.2:c.192+30336C>A, NM_178009.4:c.192+30336C>A, rs12863806, rs1012053, NG_029191.3:g.44266C>G, NG_029191.3:g.44266C>A, 1012053, NC_000013.11:g.42079301C>G, NC_000013.10:g.42653437=, NC_000013.10:g.42653437C>A, 59812619, NC_000013.11:g.42079301=, NC_000013.11:g.42079301C>A, NM_152910.5:c.192+30336C>A, XM_005266270.1:c.192+30336C>A, 12863806, NC_000013.10:g.42653437C>G +PA166157801 rs10120688 PA164717802 CDKN2B-AS1 NC_000009.12:22056500 1 0 0 0 0 60168433, NR_003529.3:n.1388+113G>A, NR_047532.1:n.1075+113G>A, NR_047536.1:n.644+7272G>A, NC_000009.12:g.22056500G>A, NC_000009.12:g.22056500G>C, NR_047535.1:n.780+113G>A, NR_047533.1:n.644+7272G>A, rs10120688, NR_047540.1:n.780+113G>A, NR_047542.1:n.780+113G>A, NR_047534.1:n.644+7272G>A, rs60168433, NR_047538.1:n.644+7272G>A, NC_000009.11:g.22056499G>C, NC_000009.11:g.22056499G>A, NC_000009.11:g.22056499=, NR_047537.1:n.780+113G>A, NR_047539.1:n.1388+113G>A, NC_000009.12:g.22056500=, NR_047543.1:n.780+113G>A, NR_120536.1:n.644+7272G>A, NR_047541.1:n.780+113G>A, 10120688 +PA166157802 rs10121600 PA28983 GRIN3A NC_000009.12:101615721 1 1 0 0 0 XR_929711.1:n.2702-2194G>A, 52821458, NC_000009.11:g.104378003=, rs61662375, NC_000009.12:g.101615721=, XM_011518211.1:c.2615-2194G>A, rs10121600, rs52821458, XM_011518212.1:c.2615-2194G>A, NC_000009.12:g.101615721C>T, 10121600, 61662375, NC_000009.11:g.104378003C>T, NM_133445.2:c.2615-2194G>A +PA166155985 rs1012335 PA29670 IFNAR1 NC_000021.9:33341701 1 0 0 0 0 NC_000021.8:g.34714007G>C, 2856970, rs2856970, NC_000021.9:g.33341701G>T, NC_000021.8:g.34714007=, 61284340, NM_000629.2:c.376+527G>C, rs1012335, NC_000021.8:g.34714007G>T, 17875815, NC_000021.9:g.33341701=, XM_011529552.1:c.376+527G>C, 1012335, NC_000021.9:g.33341701G>C, XM_005260964.1:c.169+527G>C, rs17875815, rs61284340 +PA166177127 rs10123866 PA38472 INVS NC_000009.12:100301363 1 1 0 0 0 NG_008316.1:g.207135G>T, NC_000009.12:g.100301363=, NC_000009.11:g.103063645G>C, NC_000009.12:g.100301363G>A, NC_000009.12:g.100301363G>C, NC_000009.11:g.103063645=, NC_000009.11:g.103063645G>A, rs10123866, NC_000009.11:g.103063645G>T, 60840248, NG_008316.1:g.207135G>C, NG_008316.1:g.207135G>A, NC_000009.12:g.100301363G>T, NG_008316.1:g.207135=, 10123866 +PA166177128 rs10124893 PA134991964 TEX10 NC_000009.12:100302983 1 1 0 0 0 NC_000009.12:g.100302983G>C, NG_008316.1:g.208755G>T, 10124893, NC_000009.11:g.103065265G>T, 60714646, NG_008316.1:g.208755=, NC_000009.11:g.103065265G>A, NC_000009.11:g.103065265=, rs10124893, NC_000009.12:g.100302983G>T, 56511484, NC_000009.11:g.103065265G>C, NC_000009.12:g.100302983=, NG_008316.1:g.208755G>C, NG_008316.1:g.208755G>A, NC_000009.12:g.100302983G>A +PA166155003 rs1012650 NC_000016.10:26500225 1 0 0 0 0 NC_000016.10:g.26500225C>T, NC_000016.9:g.26511546C>T, rs1012650, 59648671, NC_000016.9:g.26511546C>A, 1012650, 111192057, NC_000016.10:g.26500225=, rs111192057, rs59648671, NC_000016.10:g.26500225C>A, NC_000016.9:g.26511546= +PA166203157 rs1013001 PA134875904 ABCC13 NC_000021.9:14286933 1 0 0 0 0 386510141, NC_000021.9:g.14286933A>G, 17274037, rs1013001, NC_000021.9:g.14286933=, 56802140, NC_000021.8:g.15659254A>G, NC_000021.8:g.15659254=, NC_000021.8:g.15659254A>C, 1013001, NC_000021.9:g.14286933A>C, 56557494, 1640446 +PA166169901 rs10132552 PA30737 MEG3 NC_000014.9:100834675 2 1 0 0 0 NC_000014.9:g.100834675T>C, NC_000014.9:g.100834675=, NG_016853.2:g.60266=, 10132552, NG_045000.5:g.3407=, NG_045000.5:g.3407T>C, NC_000014.9:g.100834675T>G, NG_016853.2:g.60266T>C, NG_045000.5:g.3407T>G, NC_000014.8:g.101301012=, NC_000014.8:g.101301012T>G, rs10132552, NC_000014.8:g.101301012T>C, NG_016853.2:g.60266T>G +PA166183412 rs1013940 PA37838 SLC5A7 NC_000002.12:107992192 1 0 0 0 0 NP_068587.1:p.Ile89Val, NG_042267.1:g.10679A>G, NC_000002.12:g.107992192=, 1013940, 52811555, NG_042267.1:g.10679=, rs1013940, NC_000002.11:g.108608648=, NP_068587.1:p.Ile89=, 386510249, NC_000002.11:g.108608648A>G, NC_000002.12:g.107992192A>G, 57220582 +PA166154819 rs10140457 PA27886 ESR2 NC_000014.9:64249975 1 1 0 0 0 NC_000014.9:g.64249975A>C, NR_073505.1:n.1835-296T>G, NG_011535.1:g.93576T>G, NM_001271877.1:c.952+10474T>G, NM_001291712.1:c.1092-296T>G, rs58367654, NC_000014.9:g.64249975=, NM_001437.2:c.1092-296T>G, NR_073497.1:n.1060-296T>G, NC_000014.8:g.64716693=, NC_000014.8:g.64716693A>C, rs10140457, NR_073496.1:n.1696-296T>G, NM_001271876.1:c.1092-296T>G, 58367654, XM_011536545.1:c.1092-296T>G, NM_001214903.1:c.1092-296T>G, NM_001214902.1:c.1092-296T>G, NM_001040275.1:c.1092-296T>G, NG_011535.1:g.93576=, XM_011536546.1:c.1092-296T>G, 10140457, NM_001291723.1:c.1092-296T>G +PA166154820 rs10144771 PA35033 SERPINA6 NC_000014.9:94312316 1 0 0 0 0 NC_000014.8:g.94778653A>G, NG_011796.1:g.16036T>G, 10144771, rs10144771, NC_000014.8:g.94778653A>C, rs60270135, NC_000014.9:g.94312316A>C, NT_187601.1:g.1426878A>G, NC_000014.9:g.94312316=, NC_000014.8:g.94778653=, NC_000014.9:g.94312316A>G, NG_011796.1:g.16036=, NM_001756.3:c.613+1720T>C, 60270135, NG_011796.1:g.16036T>A, NG_011796.1:g.16036T>C, NC_000014.9:g.94312316A>T, NC_000014.8:g.94778653A>T +PA166165180 rs10147475 PA134878665 DHRS4L1 NC_000014.9:24020026 1 0 0 0 0 rs10147475, 10147475, NC_000014.9:g.24020026=, NC_000014.8:g.24489235A>G, NC_000014.9:g.24020026A>G, NC_000014.8:g.24489235= +PA166154821 rs10148269 PA27886 ESR2 NC_000014.9:64270206 1 0 0 0 0 NC_000014.9:g.64270206A>G, NM_001271876.1:c.536-1295T>C, NR_073497.1:n.453-1295T>C, XM_011536546.1:c.536-1295T>C, 10148269, NC_000014.8:g.64736924=, 61327453, NM_001271877.1:c.536-1295T>C, rs10148269, NM_001214902.1:c.536-1295T>C, XM_011536545.1:c.536-1295T>C, NG_011535.1:g.73345T>C, NM_001437.2:c.536-1295T>C, NR_073505.1:n.1279-1295T>C, NM_001291712.1:c.536-1295T>C, rs61327453, NG_011535.1:g.73345=, NR_073496.1:n.1279-1295T>C, NM_001291723.1:c.536-1295T>C, NM_001040275.1:c.536-1295T>C, NC_000014.9:g.64270206=, NM_001214903.1:c.536-1295T>C, NC_000014.8:g.64736924A>G +PA166153799 rs10157410 PA271 PLA2G4A NC_000001.11:186978092 1 1 0 0 0 NM_024420.2:c.1960+304G>C, NG_012203.1:g.154193G>C, NC_000001.10:g.186947224G>C, XM_005245267.1:c.1849+304G>C, XM_011509643.1:c.1960+304G>C, NG_012203.1:g.154193=, XM_005245267.2:c.1849+304G>C, XR_921838.1:n.1858+304G>C, XM_005245268.1:c.1780+304G>C, rs56527119, NC_000001.10:g.186947224=, NC_000001.11:g.186978092=, NM_001311193.1:c.1780+304G>C, NC_000001.11:g.186978092G>C, rs10157410, 10157410, 56527119, XM_011509641.1:c.1981+304G>C, XM_011509642.1:c.1960+304G>C +PA166154611 rs10161126 PA31331 MVK NC_000012.12:109604543 1 1 0 0 0 NC_000012.11:g.110042348=, 10161126, rs59326496, 59326496, rs10161126, NC_000012.11:g.110042348A>G, NC_000012.12:g.109604543A>G, NC_000012.12:g.109604543= +PA166196181 rs10166942 PA38270 TRPM8 NC_000002.12:233916448 1 0 0 0 0 rs10166942, 10166942, NC_000002.12:g.233916448T>C, NC_000002.12:g.233916448T>A, 58023090, NC_000002.12:g.233916448=, 17864876, NC_000002.11:g.234825093=, NC_000002.11:g.234825093T>A, 12991694, NC_000002.11:g.234825093T>C +PA166307201 rs10167228 PA301 SCN1A NC_000002.12:166042592 1 0 0 0 0 rs10167228, NG_011906.1:g.36048A>G, NC_000002.11:g.166899102T>C, NC_000002.11:g.166899102T>A, NC_000002.12:g.166042592=, NG_011906.1:g.36048A>T, NC_000002.11:g.166899102=, NG_011906.1:g.36048=, 10167228, NC_000002.12:g.166042592T>G, NC_000002.12:g.166042592T>C, NC_000002.12:g.166042592T>A, NG_011906.1:g.36048A>C, NC_000002.11:g.166899102T>G +PA166184311 rs10170310 PA162404650 SPOPL NC_000002.12:138521352 1 1 0 0 0 56420971, NC_000002.11:g.139278922G>A, NC_000002.11:g.139278922G>C, NC_000002.12:g.138521352=, NC_000002.11:g.139278922=, 56785267, NC_000002.12:g.138521352G>C, 10170310, NC_000002.12:g.138521352G>A, rs10170310 +PA166156498 rs1017733 PA27856 EREG NC_000004.12:74386633 1 0 0 0 0 NC_000004.12:g.74386633C>T, NM_001432.2:c.*1825C>T, 61714962, 60002456, 1017733, rs1017733, NC_000004.11:g.75252350C>T, NC_000004.12:g.74386633=, rs60002456, rs61714962, NC_000004.11:g.75252350= +PA166155277 rs1017860 PA31582 NFATC1 NC_000018.10:79412206 1 0 0 0 0 XM_005266701.1:c.1193+705T>C, XM_005266702.1:c.1226+705T>C, NM_172388.2:c.-191+15855T>C, rs59239647, rs1017860, 1017860, NC_000018.10:g.79412206T>G, NC_000018.9:g.77172206T>G, NC_000018.9:g.77172206T>C, NM_001278673.1:c.-191+11727T>C, NM_001278670.1:c.1226+705T>C, NM_006162.4:c.1226+705T>C, NM_172390.2:c.1226+705T>C, NC_000018.10:g.79412206T>C, 59239647, NG_029226.1:g.21435=, NM_172389.2:c.1187+705T>C, NC_000018.9:g.77172206=, NM_001278672.1:c.1187+705T>C, NM_172387.2:c.1187+705T>C, NC_000018.10:g.79412206=, NG_029226.1:g.21435T>C, NM_001278675.1:c.1187+705T>C, NM_001278669.1:c.1226+705T>C, NG_029226.1:g.21435T>G +PA166155776 rs10182702 PA29604 ABCA12 NC_000002.12:215115960 1 0 0 0 0 NM_173076.2:c.70-4270G>A, NG_007074.1:g.27469=, NC_000002.12:g.215115960=, NC_000002.11:g.215980683=, 10182702, NC_000002.11:g.215980683C>T, NC_000002.12:g.215115960C>T, XM_011510951.1:c.70-4270G>A, 58574043, rs10182702, NR_103740.1:n.290-4270G>A, XM_011510952.1:c.70-4270G>A, rs58574043, NG_007074.1:g.27469G>A +PA166155777 rs10187694 PA37174,PA142670639,PA37183 UGT1A10,UGT1A13P,UGT1A8 NC_000002.12:233636937 1 0 0 0 0 NC_000002.12:g.233636937=, rs10187694, rs17866722, NP_061948.1:p.Glu139Lys, 52814386, NC_000002.11:g.234545583G>A, NG_002601.2:g.52194G>A, NM_019076.4:c.855+18375G>A, NC_000002.11:g.234545583=, NC_000002.12:g.233636937G>A, NG_002601.2:g.52194=, NP_061948.1:p.Glu139=, rs59120771, 59120771, 10187694, rs52814386, 17866722, NM_019075.2:c.415G>A +PA166155778 rs10188577 PA301 SCN1A NC_000002.12:166059387 1 0 0 0 0 XM_011511599.1:c.265-699A>G, NC_000002.11:g.166915897T>C, XM_011511600.1:c.265-699A>G, XM_011511604.1:c.265-699A>G, XM_011511598.1:c.265-699A>G, XM_011511607.1:c.265-699A>G, XM_011511603.1:c.265-699A>G, NM_001165963.1:c.265-699A>G, NG_011906.1:g.19253A>G, NG_011906.1:g.19253=, rs10188577, XM_011511606.1:c.265-699A>G, NM_001202435.1:c.265-699A>G, rs17737907, XM_011511602.1:c.265-699A>G, 10188577, AB093548.1:c.265-699A>G, NM_001165964.1:c.265-699A>G, 17737907, XM_011511601.1:c.265-699A>G, NM_006920.4:c.265-699A>G, XR_922981.1:n.449-699A>G, NC_000002.11:g.166915897=, NC_000002.12:g.166059387=, XM_011511605.1:c.265-699A>G, NC_000002.12:g.166059387T>C +PA166179894 rs10191107 PA36302 TACR1 NC_000002.12:75158066 1 0 0 0 0 58922470, NG_029522.1:g.46454=, rs10191107, 10191107, NC_000002.11:g.75385192G>A, NC_000002.12:g.75158066=, NC_000002.12:g.75158066G>A, NC_000002.11:g.75385192=, NG_029522.1:g.46454C>T +PA166155779 rs10192566 PA30436 LPIN1 NC_000002.12:11750302 2 1 0 0 0 NC_000002.12:g.11750302C>G, XM_011510337.1:c.139-15231C>G, rs10192566, NG_012843.2:g.77724C>G, XM_006711869.1:c.139-15231C>G, XM_011510336.1:c.-10+4101C>G, rs58869681, NC_000002.11:g.11890428C>G, NM_145693.2:c.-10+3631C>G, 58869681, NC_000002.11:g.11890428=, NG_012843.2:g.77724=, NM_001261429.1:c.9+8874C>G, XM_011510338.1:c.139-15231C>G, NM_001261428.1:c.139-15231C>G, XM_006711872.1:c.-9-15231C>G, XM_011510335.1:c.-128+4101C>G, XM_011510333.1:c.139-15231C>G, XM_006711870.2:c.9+8874C>G, 10192566, NM_001261427.1:c.9+8874C>G, XM_011510334.1:c.9+8874C>G, XM_006711871.1:c.-10+3631C>G, NC_000002.12:g.11750302= +PA166182350 rs10193126 NC_000002.12:14177682 1 1 0 0 0 NC_000002.12:g.14177682T>C, NC_000002.12:g.14177682=, 10193126, NC_000002.11:g.14317807T>A, rs10193126, NC_000002.11:g.14317807=, NC_000002.11:g.14317807T>C, NC_000002.12:g.14177682T>A +PA166155613 rs1019358 PA164723457 NBAS NC_000002.12:15383918 1 0 0 0 0 XM_011510358.1:c.3258-601T>C, NG_032964.1:g.182431T>C, NR_052013.2:n.3302-601T>C, XM_011510359.1:c.2619-601T>C, 1019358, rs1019358, XM_011510361.1:c.1050-601T>C, NC_000002.11:g.15524042A>G, rs59122079, XM_011510360.1:c.1059-601T>C, 59122079, NC_000002.12:g.15383918=, NC_000002.11:g.15524042=, NG_032964.1:g.182431=, NC_000002.12:g.15383918A>G, NM_015909.3:c.3258-601T>C, XM_011510357.1:c.3129-601T>C +PA166154508 rs1019385 PA28980 GRIN2B NC_000012.12:13981909 3 1 0 0 0 NC_000012.12:g.13981909=, NG_031854.2:g.5104=, NM_000834.3:c.-2000G>T, NC_000012.12:g.13981909C>A, 1019385, NC_000012.11:g.14134843=, rs1019385, NG_031854.1:g.3180G>T, NC_000012.11:g.14134843C>A, XM_011520630.1:c.-1632G>T, NG_031854.2:g.5104G>T, XM_011520628.1:c.-1015G>T, XM_011520629.1:c.-683+7G>T, 3764029, rs3764029 +PA166155780 rs10193895 NC_000002.12:105653155 1 0 0 0 0 NC_000002.11:g.106269612=, NC_000002.12:g.105653155=, NC_000002.12:g.105653155A>G, 10193895, rs10193895, 59708627, NC_000002.11:g.106269612A>G, rs59708627 +PA166155781 rs10197559 PA25094 ATIC NC_000002.12:215321102 1 1 0 0 0 NC_000002.12:g.215321102C>T, NC_000002.11:g.216185825=, NG_013002.1:g.14147C>T, rs59040650, NC_000002.12:g.215321102=, NC_000002.11:g.216185825C>T, 59040650, rs13417729, 10197559, 13417729, rs10197559, NG_013002.1:g.14147=, NM_004044.6:c.290+1371C>T +PA166155782 rs10205923 PA203 IRS1 NC_000002.12:226749841 1 0 0 0 0 NG_015830.1:g.53950=, NG_015830.1:g.53950C>T, NC_000002.12:g.226749841=, rs10205923, NC_000002.11:g.227614557G>A, NC_000002.12:g.226749841G>A, 10205923, NC_000002.11:g.227614557=, rs58122744, 58122744, NM_005544.2:c.*22-13591C>T +PA166155784 rs10209881 PA134920089 GALNT14 NC_000002.12:31023383 1 0 0 0 0 XM_005264559.1:c.25-30376A>G, NM_024572.3:c.130-30376A>G, NC_000002.12:g.31023383T>A, NC_000002.11:g.31246249=, 56517291, NG_051040.1:g.120344=, XM_011533105.1:c.70-30376A>G, 10209881, NM_001253826.1:c.315-57081A>G, NR_045602.1:n.903-30376A>G, NG_051040.1:g.120344A>T, NM_001253827.1:c.70-30376A>G, XM_011533104.1:c.448-30376A>G, NC_000002.12:g.31023383=, XM_011533106.1:c.43-30376A>G, rs57849618, rs56517291, rs59539437, NG_051040.1:g.120344A>G, NC_000002.11:g.31246249T>C, NC_000002.12:g.31023383T>C, 57849618, 59539437, NC_000002.11:g.31246249T>A, rs10209881 +PA166155785 rs10210302 PA134902949 ATG16L1 NC_000002.12:233250193 1 1 0 0 0 XM_005246082.1:c.-1635C>T, 10210302, NC_000002.12:g.233250193C>A, NG_023038.1:g.3623=, XM_005246084.1:c.-1635C>T, NC_000002.12:g.233250193C>G, NG_023038.1:g.3623C>G, NM_030803.6:c.-1635C>T, XR_953240.1:n.-1441C>T, NG_023038.1:g.3623C>A, XM_006712608.1:c.-1635C>T, NC_000002.12:g.233250193=, NM_017974.3:c.-1635C>T, XM_011548856.1:c.-1635C>T, XM_011548855.1:c.-1635C>T, XM_011548853.1:c.-1635C>T, XR_241242.1:n.-1441C>T, NM_001190267.1:c.-1979C>T, XM_011548854.1:c.-1635C>T, NW_011332690.1:g.195531C>T, rs57072142, NM_001190266.1:c.-1885C>T, NC_000002.11:g.234158839C>T, NC_000002.11:g.234158839=, rs10210302, NC_000002.12:g.233250193C>T, XM_005246085.1:c.-1979C>T, NG_023038.1:g.3623C>T, NM_198890.2:c.-1635C>T, 57072142, NC_000002.11:g.234158839C>G, XM_005246083.1:c.-1979C>T, XM_005246086.1:c.-1635C>T, XM_005246087.1:c.-1635C>T, NC_000002.11:g.234158839C>A +PA166170406 rs10211 PA122,PA134962723 CYP3A7,ZSCAN25 NC_000007.14:99705371 2 0 0 0 0 NC_000007.14:g.99705371T>C, 11554288, NC_000007.14:g.99705371T>A, NG_007983.1:g.34828A>G, NC_000007.14:g.99705371=, NC_000007.13:g.99302994C>A, 13230223, 13310807, 3199132, 1058500, NG_007983.1:g.34828=, 16867600, 58387435, NG_007983.1:g.34828A>T, 10211, NC_000007.13:g.99302994C>T, rs10211 +PA166155786 rs10211524 PA35829 SLC1A4 NC_000002.12:64980940 1 0 0 0 0 10211524, NC_000002.12:g.64980940G>A, rs10211524, NC_000002.12:g.64980940=, 58531800, rs58531800, NC_000002.11:g.65208074G>A, NC_000002.11:g.65208074= +PA166156642 rs10213440 PA33558 PPARGC1A NC_000004.12:23864716 1 0 0 0 0 NC_000004.11:g.23866339=, NG_028250.2:g.613260=, XM_005248130.1:c.249+20036A>G, XM_005248130.2:c.249+20036A>G, XM_011513767.1:c.129+12998A>G, XM_005248132.1:c.225+20036A>G, XM_005248131.1:c.246+20036A>G, XM_011513770.1:c.-148+16013A>G, NG_028250.2:g.613260A>T, XM_005248134.1:c.249+20036A>G, XM_011513765.1:c.198+20036A>G, XM_011513766.1:c.129+12998A>G, NC_000004.12:g.23864716T>C, NC_000004.12:g.23864716T>A, 10213440, XM_005248131.3:c.246+20036A>G, NG_028250.2:g.613260A>G, XM_011513769.1:c.249+20036A>G, XM_005248133.1:c.198+20036A>G, rs10213440, XM_011513771.1:c.-148+17242A>G, NC_000004.11:g.23866339T>C, NM_013261.3:c.234+20036A>G, NC_000004.12:g.23864716=, XM_011513764.1:c.234+20036A>G, NC_000004.11:g.23866339T>A, XM_005248134.3:c.249+20036A>G, XM_011513768.1:c.129+12998A>G, NG_028250.1:g.30362A>G +PA166156861 rs10214163 PA134888452 SV2C NC_000005.10:75998585 2 0 0 0 0 58502419, 74290936, NC_000005.10:g.75998585=, NC_000005.9:g.75294410C>T, rs61727521, 386511075, NC_000005.9:g.75294410C>G, rs10214163, rs386511075, NC_000005.10:g.75998585C>A, rs74290936, rs58502419, 61727521, NC_000005.9:g.75294410=, NC_000005.9:g.75294410C>A, NC_000005.10:g.75998585C>G, NC_000005.10:g.75998585C>T, 10214163 +PA166161880 rs1021737 PA27004 CTH NC_000001.11:70439117 2 1 0 0 0 NC_000001.11:g.70439117=, NP_001893.2:p.Ser403Ile, 61639407, 1128455, NC_000001.10:g.70904800=, 17407754, 1021737, 17531503, rs1021737, 52829078, NP_001893.2:p.Ser403=, 3185428, NC_000001.11:g.70439117G>T, NC_000001.10:g.70904800G>T, NG_008041.1:g.32846=, NG_008041.1:g.32846G>T +PA166199021 rs10224002 PA33752 PRKAG2 NC_000007.14:151717955 1 1 0 0 0 10224002, NG_007486.1:g.164276=, NG_007486.1:g.164276T>C, NC_000007.13:g.151415041=, NC_000007.13:g.151415041A>G, 57209577, NC_000007.14:g.151717955A>G, rs10224002, NC_000007.14:g.151717955= +PA166177933 rs1022563 NC_000020.11:1973693 2 1 0 0 0 rs1022563, 1022563, NC_000020.10:g.1954339C>G, NC_000020.11:g.1973693C>G, NC_000020.10:g.1954339C>A, NC_000020.10:g.1954339C>T, 61106338, NC_000020.11:g.1973693C>T, NC_000020.11:g.1973693=, NC_000020.11:g.1973693C>A, NC_000020.10:g.1954339= +PA166160099 rs10226865 PA38657 GLCCI1 NC_000007.14:8048764 1 0 0 0 0 10226865, NG_032073.1:g.85021=, rs10226865, NG_032073.1:g.85021G>A, NC_000007.14:g.8048764=, 57605879, NC_000007.14:g.8048764G>A, NC_000007.13:g.8088394=, NC_000007.13:g.8088394G>A +PA166157436 rs10229583 PA32958 PAX4 NC_000007.14:127606849 1 0 0 0 0 rs10229583, NC_000007.14:g.127606849G>A, rs17659573, rs61359821, 10229583, 17659573, 61359821, NC_000007.13:g.127246903=, NC_000007.13:g.127246903G>A, NC_000007.14:g.127606849= +PA166160085 rs10229643 PA38657 GLCCI1 NC_000007.14:8022100 1 0 0 0 0 NC_000007.13:g.8061730T>A, NG_032073.1:g.58357=, NG_032073.1:g.58357T>A, rs10229643, 10229643, 17567746, NC_000007.14:g.8022100=, NC_000007.13:g.8061730=, NC_000007.14:g.8022100T>A +PA166160823 rs10234411 PA267 ABCB1 NC_000007.14:87535576 1 0 0 0 0 NC_000007.13:g.87164892T>G, NC_000007.13:g.87164892T>C, NC_000007.14:g.87535576T>C, NC_000007.13:g.87164892T>A, NC_000007.14:g.87535576T>A, NG_011513.1:g.182673A>C, NG_011513.1:g.182673=, rs10234411, NG_011513.1:g.182673A>G, NC_000007.13:g.87164892=, NC_000007.14:g.87535576T>G, NC_000007.14:g.87535576=, 10234411, NG_011513.1:g.182673A>T +PA166170509 rs1023574 PA194 HTR2C NC_000023.11:114620562 1 0 0 0 0 1023574, NG_012082.2:g.41478C>G, rs1023574, NC_000023.10:g.113855020G>C, 17326443, NC_000023.10:g.113855020G>T, NC_000023.11:g.114620562C>T, NG_012082.2:g.41478=, NC_000023.11:g.114620562C>G, NC_000023.11:g.114620562=, NG_012082.2:g.41478C>T +PA166160016 rs10239977 PA33532 POR NC_000007.14:75979668 1 0 0 0 0 10239977, NG_008930.1:g.69567C>T, rs10239977, NG_008930.1:g.69567=, NC_000007.13:g.75608986=, NC_000007.14:g.75979668C>T, NC_000007.13:g.75608986C>T, NC_000007.14:g.75979668= +PA166157437 rs10242455 PA134962723 ZSCAN25 NC_000007.14:99642556 1 0 0 0 0 60935833, NC_000007.13:g.99240179=, NC_000007.14:g.99642556A>G, 10242455, XR_927402.1:n.1466+18376A>G, NC_000007.14:g.99642556=, XM_011515910.1:c.806-4915A>G, rs60935833, XM_005250198.1:c.805+18376A>G, XM_005250197.1:c.806-4915A>G, NC_000007.13:g.99240179A>G, rs10242455, XM_011515909.1:c.805+18376A>G +PA166157438 rs10242595 PA198 IL6 NC_000007.14:22734612 1 0 0 0 0 NC_000007.14:g.22734612G>C, NC_000007.13:g.22774231G>A, NC_000007.14:g.22734612G>T, NC_000007.13:g.22774231G>T, NC_000007.13:g.22774231G>C, NC_000007.14:g.22734612=, NC_000007.14:g.22734612G>A, 60125740, rs60125740, NC_000007.13:g.22774231=, 10242595, rs10242595 +PA166156499 rs1024323 PA28941 GRK4 NC_000004.12:3004316 4 2 0 0 0 XM_011513457.1:c.425C>T, XP_005248014.1:p.Ala142Val, XM_011513447.1:c.425C>T, NP_001004057.1:p.Ala142Val, 61636656, XM_011513454.1:c.425C>T, XM_005247962.1:c.-209C>T, NM_182982.2:c.425C>T, XP_011511755.1:p.Ala142Val, NC_000004.11:g.3006043C>A, XM_011513451.1:c.425C>T, XP_011511750.1:p.Ala142Val, NM_001004056.1:c.329C>T, NP_892027.2:p.Ala142=, XR_924943.1:n.991C>T, NG_029102.1:g.45701=, XP_011511751.1:p.Ala110Val, rs52795674, 1024323, XM_011513452.1:c.425C>T, XP_011511759.1:p.Ala142Val, NG_029102.1:g.45701C>A, NP_892027.2:p.Ala142Asp, XM_005247963.1:c.425C>T, XP_011511749.1:p.Ala142Val, NG_029102.1:g.45701C>T, NC_000004.12:g.3004316=, XP_011511756.1:p.Ala142Val, XM_011513449.1:c.329C>T, XP_005248016.1:p.Ala142Val, XM_005247958.1:c.329C>T, XM_011513453.1:c.425C>T, NG_029102.1:g.45701C>G, XR_924941.1:n.991C>T, XM_011513450.1:c.425C>T, XP_011511758.1:p.Ala142Val, XP_011511753.1:p.Ala142Val, rs61636656, XM_005247959.1:c.425C>T, NP_892027.2:p.Ala142Val, NP_005298.2:p.Ala110Val, XP_005248017.1:p.Ala142Val, XP_005248015.1:p.Ala110Val, 52795674, NC_000004.11:g.3006043=, rs386511346, XM_005247962.2:c.-209C>T, XM_011513455.1:c.425C>T, XP_011511752.1:p.Ala142Val, NC_000004.12:g.3004316C>T, 386511346, rs1024323, XM_005247957.1:c.425C>T, XM_005247960.1:c.425C>T, XP_011511757.1:p.Ala142Val, NC_000004.12:g.3004316C>G, XP_011511754.1:p.Ala142Val, XM_011513456.1:c.425C>T, NM_001004057.1:c.425C>T, XM_011513448.1:c.425C>T, NP_892027.2:p.Ala142Gly, NC_000004.12:g.3004316C>A, NC_000004.11:g.3006043C>G, XM_006713880.2:c.-237C>T, NM_005307.2:c.329C>T, XP_005248020.1:p.Ala142Val, NC_000004.11:g.3006043C>T, NP_001004056.1:p.Ala110Val +PA166160089 rs10243846 PA38657 GLCCI1 NC_000007.14:8022960 1 0 0 0 0 17508479, NC_000007.14:g.8022960=, 10243846, NC_000007.13:g.8062590=, NG_032073.1:g.59217=, rs10243846, NC_000007.14:g.8022960G>A, NG_032073.1:g.59217G>A, NC_000007.13:g.8062590G>A +PA166157439 rs10244329 PA228 LEP NC_000007.14:128248636 1 0 0 0 0 57328412, 10244329, rs58085695, 56581993, NM_000230.2:c.-28-3355A>T, NC_000007.13:g.127888689=, XM_005250340.1:c.-28-3355A>T, rs10244329, NC_000007.13:g.127888689A>T, rs57328412, NC_000007.14:g.128248636A>T, XM_005250340.3:c.-28-3355A>T, rs56581993, 58085695, NG_007450.1:g.12359A>T, NC_000007.14:g.128248636=, NG_007450.1:g.12359= +PA166320682 rs1024611 NC_000017.11:34252769 1 0 0 0 0 NC_000017.11:g.34252769=, 3760400, 61676790, NC_000017.11:g.34252769A>G, NC_000017.10:g.32579788=, NC_000017.10:g.32579788A>G, 1024611, NG_012123.1:g.2493A>G, rs1024611, 386511371, NG_012123.1:g.2493=, 56495976 +PA166157440 rs10248420 PA267 ABCB1 NC_000007.14:87535670 5 3 0 0 0 NC_000007.13:g.87164986=, NC_000007.13:g.87164986A>G, NC_000007.13:g.87164986A>T, NG_011513.1:g.182579=, 56939197, NG_011513.1:g.182579T>C, NG_011513.1:g.182579T>A, 10248420, NC_000007.14:g.87535670A>T, NM_000927.4:c.2481+788T>C, NC_000007.14:g.87535670A>G, rs10248420, rs56939197, NC_000007.14:g.87535670= +PA166185601 rs1024905 NC_000012.12:4408974 1 0 0 0 0 NC_000012.11:g.4518140G>C, NC_000012.12:g.4408974G>C, NC_000012.12:g.4408974G>A, NC_000012.11:g.4518140G>A, 57350168, NC_000012.12:g.4408974=, NC_000012.11:g.4518140=, 1024905, rs1024905 +PA166160126 rs10253260 PA38657 GLCCI1 NC_000007.14:8076349 1 0 0 0 0 10253260, NC_000007.13:g.8115979G>T, 57166572, NC_000007.13:g.8115979G>A, NC_000007.13:g.8115979=, NC_000007.14:g.8076349G>A, NG_032073.1:g.112606G>T, rs10253260, NG_032073.1:g.112606G>A, 17329712, NC_000007.14:g.8076349G>T, NC_000007.14:g.8076349=, NG_032073.1:g.112606= +PA166159116 rs10255565 PA134964191 HECW1 NC_000007.14:43408191 1 0 0 0 0 NC_000007.14:g.43408191T>C, NC_000007.14:g.43408191=, NC_000007.13:g.43447790=, 10255565, rs10255565, 17172207, NC_000007.13:g.43447790T>C +PA166160137 rs10257285 PA38657 GLCCI1 NC_000007.14:8083797 1 0 0 0 0 10257285, NC_000007.13:g.8123427C>A, NC_000007.13:g.8123427=, NC_000007.14:g.8083797C>A, NG_032073.1:g.120054C>T, 17401636, 58067588, NC_000007.14:g.8083797=, NC_000007.14:g.8083797C>T, rs10257285, NC_000007.13:g.8123427C>T, NG_032073.1:g.120054=, NG_032073.1:g.120054C>A +PA166176775 rs10258429 PA7360 EGFR NC_000007.14:55170394 1 1 0 0 0 NP_958441.1:p.His656=, NC_000007.14:g.55170394=, NG_007726.3:g.156363=, rs10258429, 10258429, NC_000007.13:g.55238087C>T, 17336981, NC_000007.14:g.55170394C>T, NG_007726.3:g.156363C>T, NC_000007.13:g.55238087= +PA166157441 rs10264272 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99665212 38 8 7 0 0 NR_033807.2:n.1273G>A, NR_033808.1:n.1226G>A, XP_005250228.1:p.Lys95=, NR_033811.1:n.975G>A, rs58867275, XM_005250171.1:c.285G>A, XP_011514147.1:p.Lys28=, XM_011515844.1:c.285G>A, XP_011514145.1:p.Lys95=, NC_000007.14:g.99665212C>T, XM_011515846.1:c.84G>A, NC_000007.14:g.99665212=, NM_000777.4:c.624G>A, NG_007938.1:g.19787=, NP_001278759.1:p.Lys198=, rs10264272, XP_011514146.1:p.Lys95=, NM_001291830.1:c.594G>A, NC_000007.13:g.99262835=, XM_011515909.1:c.806-3883C>T, XM_011515847.1:c.84G>A, NR_033809.1:n.986G>A, NR_033812.1:n.867G>A, XM_005250169.1:c.594G>A, XM_005250172.1:c.285G>A, XM_005250173.1:c.84G>A, XM_006715859.2:c.624G>A, XP_011514149.1:p.Lys28=, 58867275, NP_001278758.1:p.Lys95=, XP_006715922.1:p.Lys208=, NC_000007.13:g.99262835C>T, XP_005250227.1:p.Lys95=, NR_033810.1:n.1226G>A, 10264272, XP_005250226.1:p.Lys198=, NG_007938.1:g.19787G>A, XM_005250198.1:c.806-11992C>T, NP_000768.1:p.Lys208=, XM_005250170.1:c.285G>A, XP_011514148.1:p.Lys28=, NG_007938.2:g.19787G>A, NM_001291829.1:c.285G>A, XR_927402.1:n.1466+41032C>T, XM_011515843.1:c.285G>A, XM_011515845.1:c.84G>A, XP_005250230.1:p.Lys28=, NG_007938.2:g.19787=, XP_005250229.1:p.Lys95= +PA166181265 rs10264990 PA267 ABCB1 NC_000007.14:87573299 1 0 0 0 0 NG_011513.1:g.144950G>T, NC_000007.13:g.87202615C>T, NC_000007.14:g.87573299C>G, 61631246, NC_000007.14:g.87573299C>A, NC_000007.13:g.87202615C>A, NC_000007.13:g.87202615=, NG_011513.1:g.144950G>C, NC_000007.13:g.87202615C>G, NC_000007.14:g.87573299=, 17327226, NC_000007.14:g.87573299C>T, 10264990, rs10264990, NG_011513.1:g.144950=, NG_011513.1:g.144950G>A +PA166157442 rs10267099 PA267,PA162402278 ABCB1,RUNDC3B NC_000007.14:87649444 2 1 0 0 0 NM_000927.4:c.-330-48366C>T, NM_001134406.1:c.123-1378G>A, XM_011515827.1:c.123-1378G>A, rs10267099, 58338974, XM_011515829.1:c.-220-1378G>A, NC_000007.14:g.87649444G>T, NG_011513.1:g.68805C>T, 61274075, NG_011513.1:g.68805C>G, NM_138290.2:c.123-1378G>A, NC_000007.13:g.87278760=, NM_001134405.1:c.123-1378G>A, rs10486995, NC_000007.13:g.87278760G>T, NC_000007.14:g.87649444G>A, XM_005250156.2:c.123-1378G>A, NC_000007.14:g.87649444G>C, NG_011513.1:g.68805C>A, NC_000007.14:g.87649444=, 10486995, rs61274075, NC_000007.13:g.87278760G>C, XM_011515826.1:c.123-1378G>A, 10267099, NC_000007.13:g.87278760G>A, XM_005250156.1:c.123-1378G>A, XM_011515828.1:c.-220-1378G>A, NG_011513.1:g.68805=, rs58338974 +PA166157443 rs10276036 PA267 ABCB1 NC_000007.14:87550882 5 0 0 0 0 NC_000007.14:g.87550882C>A, rs10488634, 57688958, NG_011513.1:g.167367G>A, NC_000007.14:g.87550882=, NC_000007.13:g.87180198C>A, NC_000007.13:g.87180198C>T, rs10276036, NC_000007.13:g.87180198=, NG_011513.1:g.167367=, rs111193439, 58206924, 17276942, 10488634, NC_000007.14:g.87550882C>T, rs57688958, 10276036, rs17276942, NG_011513.1:g.167367G>T, NM_000927.4:c.1000-44G>A, rs58206924, 111193439 +PA166156711 rs10277 PA162380286,PA36109 MRNIP,SQSTM1 NC_000005.10:179837731 1 0 0 0 0 NC_000005.10:g.179837731T>C, NP_057259.2:p.Gln231=, rs60625205, XP_005265982.1:p.Gln273Arg, rs248243, NM_001142299.1:c.*1138T>C, NM_001142298.1:c.*1138T>C, NG_011342.1:g.36344T>C, 17680466, 3734006, NP_057259.2:p.Gln231Leu, rs3734006, NM_003900.4:c.*1138T>C, 116930627, rs116930627, NP_001017987.1:p.Gln176Arg, 10277, XM_005265928.1:c.498+29A>G, NC_000005.10:g.179837731T>A, NM_001017987.2:c.527A>G, XP_005265984.1:p.Gln97Arg, rs3206175, 3206175, XM_005265925.1:c.818A>G, NG_011342.1:g.36344=, XM_005265926.1:c.663+29A>G, NM_016175.3:c.692A>G, NC_000005.9:g.179264731T>C, NP_057259.2:p.Gln231Arg, 60625205, NC_000005.9:g.179264731=, 248243, NG_011342.1:g.36344T>A, rs17680466, XM_005265927.1:c.290A>G, NC_000005.10:g.179837731=, rs10277, NC_000005.9:g.179264731T>A +PA166157444 rs10279545 PA134887081 COL26A1 NC_000007.14:101527747 1 1 0 0 0 59254245, NC_000007.13:g.101171028=, NG_033785.2:g.169928=, NM_001278563.2:c.386-5335T>C, NC_000007.14:g.101527747=, rs10279545, 10279545, NC_000007.14:g.101527747T>C, NM_133457.4:c.380-5335T>C, NC_000007.13:g.101171028T>C, NG_033785.2:g.169928T>C, rs59254245 +PA166157445 rs10280101 PA267 ABCB1 NC_000007.14:87524269 2 1 0 0 0 rs56546728, 10280101, NG_011513.1:g.193980=, NC_000007.14:g.87524269=, NC_000007.13:g.87153585A>G, NC_000007.14:g.87524269A>C, rs57009801, NC_000007.13:g.87153585A>C, NC_000007.14:g.87524269A>G, NG_011513.1:g.193980T>C, 56546728, NC_000007.13:g.87153585=, NM_000927.4:c.2686-3393T>G, NG_011513.1:g.193980T>G, rs10280101, 57009801 +PA166157446 rs10280623 PA267 ABCB1 NC_000007.14:87573228 1 0 0 0 0 NC_000007.13:g.87202544=, NG_011513.1:g.145021=, NG_011513.1:g.145021A>G, rs10280623, NC_000007.14:g.87573228T>C, NM_000927.4:c.287-3005A>G, NC_000007.14:g.87573228=, NC_000007.13:g.87202544T>C, rs56464124, 10280623, 56464124 +PA166179355 rs1029359343 PA126 CYP2C9 NC_000010.11:94972204 1 1 0 0 0 NG_008385.1:g.38547=, NG_008385.2:g.39047=, NG_008385.2:g.39047G>A, NP_000762.2:p.Arg307Lys, rs1029359343, NC_000010.10:g.96731961G>A, NC_000010.10:g.96731961=, NC_000010.11:g.94972204G>A, NG_008385.1:g.38547G>A, NC_000010.11:g.94972204=, NP_000762.2:p.Arg307=, 1029359343 +PA166155004 rs1029489 PA29832 IL4R NC_000016.10:27364896 1 1 0 0 0 NC_000016.10:g.27364896=, XM_011545832.1:c.*1066A>G, XM_011545834.1:c.*1066A>G, XM_011545833.1:c.*1066A>G, NC_000016.10:g.27364896A>G, NM_001257406.1:c.*1066A>G, NM_001257407.1:c.*1066A>G, 386511926, 1029489, rs1029489, NM_000418.3:c.*1066A>G, rs386511926, NC_000016.9:g.27376217=, NG_012086.1:g.55967=, XM_011545828.1:c.*1066A>G, rs58796356, XM_011545827.1:c.*1066A>G, XM_011545825.1:c.*1066A>G, XM_011545829.1:c.*1066A>G, XM_005255308.1:c.*1066A>G, XM_011545826.1:c.*1066A>G, NG_012086.1:g.55967A>G, 58796356, NC_000016.9:g.27376217A>G, XM_005255308.2:c.*1066A>G, XM_005255307.1:c.*1066A>G, XM_005255306.1:c.*1066A>G, NM_001257997.1:c.*1066A>G, XM_006721043.1:c.*1066A>G, XM_011545830.1:c.*1066A>G, XM_011545831.1:c.*1066A>G, XM_005255305.1:c.*1066A>G +PA166157167 rs10305420 PA28725 GLP1R NC_000006.12:39048860 3 1 0 0 0 NC_000006.11:g.39016636=, rs10305420, NP_002053.3:p.Pro7Leu, NC_000006.12:g.39048860C>T, XR_926153.1:n.80C>T, XR_241889.1:n.80C>T, XR_926154.1:n.80C>T, XR_926155.1:n.80C>T, 10305420, XR_241888.1:n.80C>T, NP_002053.3:p.Pro7=, NC_000006.12:g.39048860=, NM_002062.3:c.20C>T, NC_000006.11:g.39016636C>T +PA166157803 rs10306114 PA24346 PTGS1 NC_000009.12:122370243 4 3 0 0 0 rs10306114, NM_080591.2:c.-842A>G, NM_001271166.1:c.-920A>G, XM_011518875.1:c.-890A>G, NM_001271164.1:c.-842A>G, XM_005252106.1:c.-920A>G, XM_005252104.1:c.-890A>G, XM_005252105.2:c.-1139A>G, NC_000009.11:g.125132522=, NG_032900.1:g.4294A>G, NC_000009.11:g.125132522A>G, NC_000009.12:g.122370243=, NM_001271367.1:c.-1140A>G, 10306114, NM_000962.3:c.-842A>G, NC_000009.12:g.122370243A>G, NM_001271368.1:c.-890A>G, XM_005252105.1:c.-1139A>G, XM_011518876.1:c.-4752A>G, NG_032900.1:g.4294= +PA166157804 rs10306135 PA24346 PTGS1 NC_000009.12:122375416 5 1 0 0 0 NM_001271166.1:c.-233-2483A>T, XM_005252104.1:c.20-2483A>T, XM_011518875.1:c.20-2483A>T, NG_032900.1:g.9467=, rs10306135, NG_032900.1:g.9467A>T, NC_000009.12:g.122375416=, NM_001271368.1:c.20-2483A>T, XM_011518876.1:c.-262A>T, NC_000009.12:g.122375416A>T, NM_001271164.1:c.95-2483A>T, 10306135, XM_005252106.1:c.-233-2483A>T, NM_080591.2:c.95-2483A>T, XM_005252105.1:c.20-2483A>T, NM_001271367.1:c.-204-2512A>T, XM_005252105.2:c.20-2483A>T, NM_000962.3:c.95-2483A>T, NM_000962.2:c.95-2483A>T, NC_000009.11:g.125137695A>T, NM_001271165.1:c.-262A>T, NC_000009.11:g.125137695= +PA166202881 rs1034936 PA83 CACNA1C NC_000012.12:2551994 1 1 0 0 0 57463099, NC_000012.11:g.2661160C>G, NC_000012.11:g.2661160C>A, NC_000012.12:g.2551994C>T, NC_000012.12:g.2551994C>A, NG_008801.2:g.586209C>A, NG_008801.2:g.586209C>G, 16929566, NC_000012.12:g.2551994C>G, NC_000012.12:g.2551994=, NC_000012.11:g.2661160C>T, NC_000012.11:g.2661160=, NG_008801.2:g.586209C>T, rs1034936, 1034936, NG_008801.2:g.586209= +PA166156712 rs10380 PA31277 MTRR NC_000005.10:7897078 1 0 0 0 0 rs9282886, NG_008856.1:g.32975C>T, 9282886, NC_000005.9:g.7897191C>T, XR_241702.1:n.1905C>T, rs52810705, NP_076915.3:p.His595=, NP_076915.2:p.His622Tyr, rs60582795, XM_005248304.1:c.1828C>T, XP_005248362.1:p.His595Tyr, rs10380, NR_134481.1:n.1831C>T, rs17354145, 52810705, rs1134946, 1134946, XM_005248305.1:c.1783C>T, NR_134480.1:n.1906C>T, XP_005248361.1:p.His610Tyr, XP_011512345.1:p.His622Tyr, NG_008856.1:g.32975=, 17354145, NC_000005.9:g.7897191=, NM_024010.2:c.1864C>T, NR_134482.1:n.1766C>T, XM_011514043.1:c.1864C>T, NC_000005.10:g.7897078C>T, NC_000005.10:g.7897078=, 10380, XR_241703.1:n.1790C>T, rs2287782, 2287782, XP_011512346.1:p.His595Tyr, rs3197331, 3197331, XM_011514044.1:c.1783C>T, XR_925614.1:n.1909C>T, NP_076915.3:p.His595Tyr, NP_002445.2:p.His595Tyr, NM_002454.2:c.1783C>T, 60582795 +PA166247201 rs1038376 PA123 CYP2B6 NC_000019.10:41018104 1 0 0 0 0 NC_000019.10:g.41018104A>G, NG_007929.1:g.31806=, NC_000019.9:g.41524009=, 1038376, 58879766, NG_007929.1:g.31806A>T, rs1038376, NC_000019.9:g.41524009A>T, 28969422, NG_007929.1:g.31806A>G, NC_000019.10:g.41018104A>T, 11552328, 1126688, NC_000019.9:g.41524009A>G, NC_000019.10:g.41018104= +PA166185583 rs10401969 PA165394338 SUGP1 NC_000019.10:19296909 1 0 0 0 0 NC_000019.10:g.19296909T>C, 56388212, NC_000019.9:g.19407718=, NC_000019.10:g.19296909=, rs10401969, 56950088, NC_000019.9:g.19407718T>C, 10401969 +PA166284842 rs10403288 PA25168 ATP8B3 NC_000019.10:1808864 1 0 0 0 0 NC_000019.10:g.1808864G>C, 52809989, NC_000019.10:g.1808864G>A, rs10403288, 57515293, NC_000019.10:g.1808864=, 10403288, NC_000019.9:g.1808863G>C, 17684798, NC_000019.9:g.1808863G>A, NC_000019.9:g.1808863= +PA166206621 rs10405238 PA134893477 ZNF568 NC_000019.10:36997153 1 1 0 0 0 10405238, 17272415, 60861696, NC_000019.10:g.36997153T>G, 52804983, NC_000019.9:g.37488055T>G, NC_000019.10:g.36997153=, NC_000019.9:g.37488055=, rs10405238, NP_001191767.1:p.Tyr488=, NP_001191767.1:p.Tyr488Asp +PA166185412 rs10405681 PA33329 PIP5K1C NC_000019.10:3634021 1 1 0 0 0 NC_000019.9:g.3634019C>G, NG_012161.1:g.71427G>C, NG_012161.1:g.71427G>A, NG_012161.2:g.71427=, rs10405681, NG_012161.2:g.71427G>T, NC_000019.10:g.3634021C>G, NC_000019.10:g.3634021=, NC_000019.9:g.3634019C>A, 10405681, 58667463, NC_000019.10:g.3634021C>A, NG_012161.1:g.71427G>T, NC_000019.9:g.3634019=, NG_012161.1:g.71427=, NC_000019.9:g.3634019C>T, NG_012161.2:g.71427G>C, NC_000019.10:g.3634021C>T, NG_012161.2:g.71427G>A +PA166155451 rs10413396 NC_000019.10:44309549 1 0 0 0 0 NC_000019.9:g.44813702G>T, NC_000019.10:g.44309549G>T, 10413396, rs10413396, NC_000019.10:g.44309549=, NC_000019.9:g.44813702= +PA166176935 rs10413455 PA37506 ZNF134 NC_000019.10:57620255 1 1 0 0 0 NC_000019.10:g.57620255=, NP_003426.3:p.Ala46Ser, rs10413455, NC_000019.10:g.57620255G>T, NP_003426.3:p.Ala46=, NP_003426.3:p.Ala46Thr, NC_000019.9:g.58131623G>A, NC_000019.10:g.57620255G>A, 10413455, 386506928, 52804630, NC_000019.9:g.58131623G>T, 60648349, NC_000019.9:g.58131623= +PA166155452 rs10416717 PA26007 CACNA1A NC_000019.10:13410714 1 0 0 0 0 XM_005260066.1:c.540-38935T>C, NM_000068.3:c.540-38935T>C, rs58557949, NG_011569.1:g.100747=, NC_000019.10:g.13410714=, NC_000019.9:g.13521528A>G, XR_936339.1:n.113+1406A>G, 10416717, NG_011569.1:g.100747T>C, XM_005260067.1:c.540-38935T>C, NC_000019.10:g.13410714A>T, 58557949, XR_936340.1:n.113+1406A>G, NM_001127221.1:c.540-38935T>C, XR_936338.1:n.113+1406A>G, rs56628518, NC_000019.10:g.13410714A>G, XM_005260068.1:c.540-38935T>C, NG_011569.1:g.100747T>A, NC_000019.9:g.13521528=, 56628518, NM_001127222.1:c.540-38935T>C, XM_005260065.1:c.540-38935T>C, NM_023035.2:c.540-38935T>C, NM_001174080.1:c.540-38935T>C, rs10416717, NC_000019.9:g.13521528A>T +PA166156969 rs1041981 PA30474 LTA NC_000006.12:31573007 2 0 0 0 0 NT_113891.2:g.3050400A>C, NT_167248.1:g.2834422C>A, NT_167245.1:g.2826325C>A, rs115360616, NT_167246.2:g.2878048C>A, XM_011514618.1:c.179C=, XP_011546740.1:p.Thr60Asn, XM_011514618.1:c.179C>A, XP_011546544.1:p.Thr60=, 115360616, XM_011548051.1:c.179C=, XP_011545956.1:p.Thr60=, XR_953043.1:n.-344T>G, rs17859107, rs3181466, XM_011548243.1:c.179C>A, NP_001153212.1:p.Thr60Asn, NC_000006.11:g.31540784C>A, XP_011512919.1:p.Thr60=, XP_011546352.1:p.Thr60=, XM_011548243.1:c.179C=, XP_011546187.1:p.Thr60Asn, 3181466, XM_011548438.1:c.179C>A, NT_167247.2:g.2914905C>A, NT_167249.2:g.2872287C>A, XM_011514615.1:c.179C>A, NP_000586.2:p.Thr60Asn, XM_011514617.1:c.179C=, NT_167245.2:g.2820740C=, XP_011512916.1:p.Thr60=, XM_011547884.1:c.179C>A, NT_167246.1:g.2883668C>A, XP_011546739.1:p.Thr60=, XP_011546742.1:p.Thr60=, rs1800509, NG_012010.1:g.5909=, 142541719, XM_011547883.1:c.179C>A, XM_011548050.1:c.179C=, XR_952889.1:n.-309T>G, NT_167249.1:g.2871585C>A, XM_011548051.1:c.179C>A, XR_952245.1:n.-285T>G, XP_011546545.1:p.Thr60Asn, XM_011547653.1:c.179C=, XP_011546187.1:p.Thr60=, XR_926695.1:n.-309T>G, NT_167248.1:g.2834422C=, XP_011546740.1:p.Thr60=, NT_167249.1:g.2871585C=, XP_011512920.1:p.Thr60Asn, 2229093, XP_011546186.1:p.Thr60Asn, XP_011512918.1:p.Thr60=, XM_011548437.1:c.179C=, NC_000006.12:g.31573007=, rs57361933, XM_011547887.1:c.179C=, XM_011547654.1:c.179C=, XR_952708.1:n.-344G>T, XM_011514616.1:c.179C=, XP_011546189.1:p.Thr60=, XP_011546188.1:p.Thr60Asn, XM_011547884.1:c.179C=, NG_007462.1:g.2435C>A, XM_011548242.1:c.179C=, XP_011546738.1:p.Thr60Asn, NT_167245.1:g.2826325C=, 17859107, XP_011545955.1:p.Thr60Asn, XP_011512916.1:p.Thr60Asn, rs17846104, 1800509, XM_011547250.1:c.179A=, NM_001159740.2:c.179C>A, NG_012010.1:g.5909C=, 1041981, NT_167249.2:g.2872287C=, XP_011546353.1:p.Thr60Asn, XR_953113.1:n.-309G>T, NM_001159740.2:c.179C=, XP_011546742.1:p.Thr60Asn, NT_167246.2:g.2878048C=, XM_011548050.1:c.179C>A, NC_000006.12:g.31573007C>A, XP_011546185.1:p.Thr60Asn, NT_167247.1:g.2920490C>A, XM_011548440.1:c.179C>A, XM_011547886.1:c.179C=, XM_011514614.1:c.179C=, rs117029106, NM_000595.3:c.179C=, NP_001153212.1:p.Thr60=, XP_011546185.1:p.Thr60=, XR_952708.1:n.-344T>G, 117029106, XM_011547885.1:c.179C>A, XP_011512918.1:p.Thr60Asn, NC_000006.12:g.31573007C=, XP_011546189.1:p.Thr60Asn, XM_011547654.1:c.179C>A, 57361933, NG_012010.1:g.5909C>A, XR_952970.1:n.-344T>G, XM_011548440.1:c.179C=, XP_011545552.1:p.Asn60Thr, XM_011548242.1:c.179C>A, NT_167247.2:g.2914905C=, XM_011548439.1:c.179C>A, NC_000006.11:g.31540784C=, XM_011514616.1:c.179C>A, XM_011548438.1:c.179C=, NT_167247.1:g.2920490C=, XP_011546188.1:p.Thr60=, NT_113891.3:g.3050294A>C, XM_011547653.1:c.179C>A, XP_011512917.1:p.Thr60=, 17846104, XM_011547885.1:c.179C=, XP_011546741.1:p.Thr60=, XM_011514617.1:c.179C>A, rs1041981, XP_011546544.1:p.Thr60Asn, XR_953113.1:n.-309T>G, NT_113891.2:g.3050400A=, XP_011545955.1:p.Thr60=, XP_011546353.1:p.Thr60=, NM_000595.3:c.179C>A, rs2229093, XM_011547886.1:c.179C>A, XP_011546741.1:p.Thr60Asn, XP_011546186.1:p.Thr60=, XM_011548437.1:c.179C>A, XR_953043.1:n.-344G>T, NP_000586.2:p.Thr60=, XP_011512920.1:p.Thr60=, NT_113891.3:g.3050294A=, XP_011546738.1:p.Thr60=, XP_011512917.1:p.Thr60Asn, XP_011545552.1:p.Asn60=, NT_167246.1:g.2883668C=, XP_011512919.1:p.Thr60Asn, NT_167245.2:g.2820740C>A, NT_167248.2:g.2828826C=, XP_011546739.1:p.Thr60Asn, XM_011547883.1:c.179C=, XR_952970.1:n.-344G>T, NT_167248.2:g.2828826C>A, NC_000006.11:g.31540784=, NG_007462.1:g.2435=, NG_007462.1:g.2435C=, XP_011545956.1:p.Thr60Asn, XM_011547250.1:c.179A>C, XM_011514614.1:c.179C>A, rs142541719, XR_952889.1:n.-309G>T, XM_011548439.1:c.179C=, XM_011514615.1:c.179C=, XM_011548436.1:c.179C=, XR_952245.1:n.-285G>T, XM_011547887.1:c.179C>A, XP_011546545.1:p.Thr60=, XP_011546352.1:p.Thr60Asn, XM_011548436.1:c.179C>A, XR_926695.1:n.-309G>T +PA166157549 rs1041983 PA18 NAT2 NC_000008.11:18400285 11 4 1 0 0 NG_012246.1:g.14041=, XM_011544358.1:c.282C>T, rs59855457, NC_000008.10:g.18257795C>T, NC_000008.10:g.18257795=, NG_012246.1:g.14041C>T, 17845484, rs17858364, NC_000008.11:g.18400285=, NC_000008.11:g.18400285C>T, 1041983, NP_000006.2:p.Tyr94=, 59855457, NM_000015.2:c.282C>T, XP_011542660.1:p.Tyr94=, 17858364, rs1041983, rs17845484 +PA166185423 rs10419980 PA33329 PIP5K1C NC_000019.10:3685118 1 1 0 0 0 NG_012161.1:g.20330=, NG_012161.1:g.20330G>A, NG_012161.2:g.20330G>A, NC_000019.10:g.3685118C>T, NC_000019.10:g.3685118=, rs10419980, NG_012161.2:g.20330=, 58496135, 10419980, NC_000019.9:g.3685116C>T, NC_000019.9:g.3685116= +PA166186136 rs1042008 PA343 SULT1A1 NC_000016.10:28607005 3 3 0 0 0 52804540, NC_000016.10:g.28607005=, NP_803880.1:p.His71Tyr, rs1042008, 1042008, NC_000016.10:g.28607005G>A, NC_000016.9:g.28618326G>A, NG_028128.1:g.21541=, NP_803880.1:p.His71=, NC_000016.9:g.28618326=, NG_028128.1:g.21541C>T +PA166176938 rs10420097 PA37582 ZNF211 NC_000019.10:57633193 1 1 0 0 0 NC_000019.10:g.57633193A>C, NC_000019.10:g.57633193A>G, rs10420097, NC_000019.10:g.57633193=, NC_000019.9:g.58144561=, NG_034028.1:g.5027=, NG_034028.1:g.5027A>C, NC_000019.9:g.58144561A>C, 10420097, NG_034028.1:g.5027A>G, NC_000019.9:g.58144561A>G +PA166186146 rs1042028 PA343 SULT1A1 NC_000016.10:28606193 22 5 0 0 0 3181508, NC_000016.10:g.28606193=, SULT1A1*2, 17844870, NM_001055.3:c.638G>A, NC_000016.9:g.28617514=, NC_000016.9:g.28617514C>T, 17412411, 2230713, rs1042028, 4149396, NP_803880.1:p.Arg135=, NP_803880.1:p.Arg135His, 1042028, NG_028128.1:g.22353=, 3176928, 17857585, NC_000016.10:g.28606193C>T, rs9282861, NG_028128.1:g.22353G>A +PA166197881 rs1042034 PA50 APOB NC_000002.12:21002409 1 0 0 0 0 17240958, NC_000002.11:g.21225281=, NC_000002.12:g.21002409=, 3181514, 60186088, 52829794, 117805041, NC_000002.11:g.21225281C>T, NP_000375.3:p.Ser4338=, NP_000375.3:p.Ser4338Asn, NG_011793.1:g.46665G>A, 1042034, 17041706, rs1042034, NG_011793.1:g.46665=, NC_000002.12:g.21002409C>T +PA166233882 rs1042098 PA311 SLC6A3 NC_000005.10:1394700 4 0 0 0 0 NC_000005.10:g.1394700A>G, NC_000005.9:g.1394815A>G, NG_015885.1:g.55729=, NC_000005.10:g.1394700=, NG_015885.1:g.55729T>C, 1042098, 3181573, NC_000005.9:g.1394815=, rs1042098 +PA166153606 rs1042114 PA31942 OPRD1 NC_000001.11:28812463 8 0 0 0 0 NP_000902.3:p.Cys27Phe, NM_000911.3:c.80G>T, NC_000001.11:g.28812463G>C, NC_000001.11:g.28812463=, NC_000001.10:g.29138975=, rs59349662, NC_000001.10:g.29138975G>C, rs1042114, 1042114, NC_000001.11:g.28812463G>T, NP_000902.3:p.Cys27=, NC_000001.10:g.29138975G>T, 59349662, NP_000902.3:p.Cys27Ser +PA166156970 rs1042136 PA35062,PA35064 HLA-DPA1,HLA-DPB1 NC_000006.12:33080851 1 1 0 0 0 NT_167246.1:g.4506174A=, NT_167244.1:g.4335435A=, XM_006725908.2:c.-33A>C, NM_001242525.1:c.-195G>T, NC_000006.12:g.33080851=, NT_167244.2:g.4385519A=, XM_006725998.2:c.-33A=, NG_033242.1:g.9926A=, 116864197, NT_113891.2:g.4492807C=, NT_167244.2:g.4385519A>C, NM_002121.5:c.280A>C, XM_006726088.2:c.-33A>C, NT_113891.3:g.4492701C=, NC_000006.11:g.33048628A>C, NM_001242524.1:c.-271G>T, NT_167248.2:g.4275489A>C, NT_167247.2:g.4379904A=, NT_167246.1:g.4506174A>C, NC_000006.11:g.33048628A=, NT_167245.2:g.4324382A>C, rs17221122, NT_167245.1:g.4329967A>C, NT_167248.2:g.4275489A=, XM_006725908.2:c.-33A=, NC_000006.11:g.33048628A>T, XM_006726088.2:c.-33A=, NT_167246.2:g.4500554A=, XM_006725817.2:c.-33A>C, NT_167245.1:g.4329967A=, rs111297925, NG_033241.1:g.4928T=, NG_033241.1:g.4928T>G, NC_000006.12:g.33080851A>C, XM_006725817.2:c.-33A=, 1042136, XM_006725040.2:c.-33A=, NG_033241.1:g.4928=, NG_033241.1:g.4928T>A, NT_167245.2:g.4324382A=, NT_167246.2:g.4500554A>C, XM_006725040.2:c.-33A>C, NT_167249.1:g.4529132A>C, NT_167244.1:g.4335435A>C, 3173293, rs111936448, NC_000006.12:g.33080851A>T, rs3173293, NM_001242525.1:c.-195T>G, NT_167247.1:g.4385489A>C, NT_167249.2:g.4529834A=, NT_167248.1:g.4281085A>C, NT_167247.1:g.4385489A=, NC_000006.12:g.33080851A=, NT_113891.2:g.4492807C>A, rs115274041, NC_000006.11:g.33048628=, NP_002112.3:p.Ile94Leu, 111936448, 115274041, NT_167248.1:g.4281085A=, NM_001242524.1:c.-271T>G, NT_167249.1:g.4529132A=, XM_006725699.2:c.-33A=, XM_006715078.2:c.-33A>C, NG_033242.1:g.9926A>C, NT_167247.2:g.4379904A>C, XM_006725699.2:c.-33A>C, NG_033242.1:g.9926=, 111297925, NP_002112.3:p.Ile94Phe, XM_006715078.2:c.-33A=, XM_006725998.2:c.-33A>C, NT_113891.3:g.4492701C>A, NM_002121.5:c.280A=, NG_033242.1:g.9926A>T, rs116864197, rs1042136, 17221122, NT_167249.2:g.4529834A>C, NP_002112.3:p.Ile94= +PA166156971 rs1042151 PA35062,PA35064 HLA-DPA1,HLA-DPB1 NC_000006.12:33080884 1 1 0 0 0 NT_167247.2:g.4379937A=, rs117623516, rs11551417, XP_006715141.1:p.Met1Val, NM_002121.5:c.313A>G, NT_167247.1:g.4385522A>G, XM_006725908.2:c.1A>G, NG_033241.1:g.4895T=, XP_006726151.1:p.Met1=, NT_167246.2:g.4500587A=, XP_006725971.1:p.Met1=, NM_001242524.1:c.-304C>T, NP_002112.3:p.Met105Val, XM_006725699.2:c.1A>G, NT_167245.2:g.4324415A>G, rs1042151, XM_006725817.2:c.1A=, XM_006725908.2:c.1A=, NT_167245.1:g.4330000A>G, NT_167249.2:g.4529867A=, NT_167249.2:g.4529867A>G, NM_001242525.1:c.-228C>T, XM_006725040.2:c.1A>G, XP_006726151.1:p.Met1Val, NT_167244.1:g.4335468A>G, NP_002112.3:p.Met105=, XP_006725880.1:p.Met1=, NG_033242.1:g.9959A>G, NT_167247.2:g.4379937A>G, NG_033241.1:g.4895T>C, NT_167249.1:g.4529165A=, XM_006725817.2:c.1A>G, 114462698, NT_167246.2:g.4500587A>G, 77545139, NC_000006.11:g.33048661A>G, 117623516, NT_113891.2:g.4492840G>A, rs113526127, 17221143, rs114462698, NT_167246.1:g.4506207A>G, XP_006725971.1:p.Met1Val, XM_006725998.2:c.1A>G, NT_167249.1:g.4529165A>G, XP_006726061.1:p.Met1=, NG_033241.1:g.4895=, XM_006726088.2:c.1A>G, 3173291, XP_006725762.1:p.Met1=, XP_006726061.1:p.Met1Val, XP_006715141.1:p.Met1=, NM_002121.5:c.313A=, NG_033242.1:g.9959=, NT_167244.2:g.4385552A=, NC_000006.11:g.33048661A=, NT_113891.2:g.4492840G=, NT_113891.3:g.4492734G>A, 11551417, rs3173291, NT_167248.2:g.4275522A=, NT_167248.2:g.4275522A>G, NM_001242524.1:c.-304T>C, XM_006715078.2:c.1A=, XM_006725699.2:c.1A=, XM_006726088.2:c.1A=, NT_167247.1:g.4385522A=, NT_167248.1:g.4281118A>G, NT_167246.1:g.4506207A=, XP_006725880.1:p.Met1Val, NT_167244.1:g.4335468A=, NT_113891.3:g.4492734G=, XM_006725998.2:c.1A=, NC_000006.12:g.33080884=, XP_006725103.1:p.Met1=, NT_167248.1:g.4281118A=, NT_167244.2:g.4385552A>G, NT_167245.1:g.4330000A=, rs17221143, NG_033242.1:g.9959A=, 113526127, NM_001242525.1:c.-228T>C, NC_000006.12:g.33080884A>G, NC_000006.12:g.33080884A=, rs77545139, XP_006725762.1:p.Met1Val, XM_006715078.2:c.1A>G, XP_006725103.1:p.Met1Val, NC_000006.11:g.33048661=, 1042151, NT_167245.2:g.4324415A=, XM_006725040.2:c.1A= +PA166284841 rs10421558 PA25168 ATP8B3 NC_000019.10:1812522 1 0 0 0 0 NC_000019.10:g.1812522A>C, NC_000019.9:g.1812521=, NC_000019.9:g.1812521A>G, 17684809, 59201656, NC_000019.9:g.1812521A>C, 10421558, NC_000019.10:g.1812522A>G, NC_000019.10:g.1812522=, rs10421558 +PA166155172 rs1042173 PA312 SLC6A4 NC_000017.11:30197993 2 2 0 0 0 XM_005258025.1:c.*463T>G, rs1042173, NM_001045.5:c.*463T>G, NC_000017.10:g.28525011A>C, NC_000017.11:g.30197993A>C, NC_000017.11:g.30197993=, NG_011747.2:g.42944=, rs17825889, NG_011747.2:g.42944T>G, rs60303970, 60303970, NC_000017.10:g.28525011=, 17825889, 1042173 +PA166282962 rs1042192 PA127 CYP2C18 NC_000010.11:94735527 1 0 0 0 0 NC_000010.10:g.96495284G>A, rs1042192, NG_008373.1:g.57034=, 1042192, NG_008373.1:g.57034G>C, NC_000010.10:g.96495284=, NC_000010.10:g.96495284G>C, NG_008373.1:g.57034G>A, NC_000010.11:g.94735527G>C, 3740368, NC_000010.11:g.94735527=, NC_000010.11:g.94735527G>A +PA166155360 rs1042389 PA123 CYP2B6 NC_000019.10:41018248 3 0 0 0 0 3181848, rs57627668, NC_000019.10:g.41018248T>C, 57627668, rs3181848, NM_000767.4:c.*1421T>C, XM_011526550.1:c.*1421T>C, NC_000019.9:g.41524153T>C, NG_007929.1:g.31950=, NC_000019.9:g.41524153=, NG_007929.1:g.31950T>C, rs1042389, 1042389, NC_000019.10:g.41018248=, XM_005258571.1:c.*1421T>C, XM_011526549.1:c.*1421T>C, XM_011526548.1:c.*1421T>C +PA166155453 rs10423928 PA28682 GIPR NC_000019.10:45679046 3 1 0 0 0 rs10423928, XM_011526712.1:c.1044+820T>A, XM_011526715.1:c.861+820T>A, XM_011526710.1:c.1278+820T>A, NM_000164.3:c.1152+820T>A, NC_000019.9:g.46182304T>A, XR_935791.1:n.1171+820T>A, NC_000019.10:g.45679046=, XM_011526711.1:c.1170+820T>A, 10423928, XM_011526714.1:c.861+820T>A, XM_011526713.1:c.1029+820T>A, NC_000019.9:g.46182304=, NC_000019.10:g.45679046T>A, XM_005258733.1:c.1044+820T>A, NM_001308418.1:c.1044+820T>A, XM_011526709.1:c.1278+820T>A +PA166155173 rs1042522 PA36679,PA164727568 TP53,WRAP53 NC_000017.11:7676154 15 2 0 0 0 NM_001276696.1:c.98C=, rs2229076, NC_000017.10:g.7579472G>A, NM_001126116.1:c.-939C=, NP_001119590.1:p.Pro33His, NP_000537.3:p.Pro72Leu, 2229076, NP_001263625.1:p.Pro33=, NM_001276699.1:c.-1020C>G, NM_001276696.1:c.98C>G, NM_001276699.1:c.-1020C>A, NM_001276696.1:c.98C>A, NM_001276761.1:c.98C=, NP_001263625.1:p.Pro33His, NP_001119584.1:p.Pro72His, NM_001126118.1:c.98C>G, NP_001263690.1:p.Pro33Arg, NM_001126118.1:c.98C>A, NM_001276695.1:c.98C=, NC_000017.10:g.7579472G=, NP_000537.3:p.Pro72=, XR_243566.1:n.354C=, NM_001126112.2:c.215C=, NM_001276760.1:c.98C=, NP_001119586.1:p.Pro72=, NP_001119590.1:p.Pro33Arg, NP_001119590.1:p.Pro33=, NM_001126118.1:c.98C=, XM_005256778.1:c.176-21C=, NG_017013.2:g.16397=, NP_001263624.1:p.Pro33=, rs17857747, XR_243565.1:n.354C=, XR_243566.1:n.354C>A, NM_001126115.1:c.-939C=, NM_001126113.2:c.215C=, rs4134781, rs1042522, NM_001126114.2:c.215C>A, 4134781, XR_243566.1:n.354C>G, NM_001126114.2:c.215C>G, NP_001263625.1:p.Pro33Arg, NP_001119584.1:p.Pro72=, NM_001276698.1:c.-1020C=, NM_001276697.1:c.-1020C>A, NM_001276699.1:c.-1020C=, NM_001126117.1:c.-939C=, NM_001276697.1:c.-1020C>G, NM_001276695.1:c.98C>G, NM_001126112.2:c.215C>A, NM_001276697.1:c.-1020C=, NM_001126112.2:c.215C>G, NM_001276695.1:c.98C>A, NC_000017.11:g.7676154G=, NM_001126113.2:c.215C>A, NP_001263690.1:p.Pro33=, XR_243565.1:n.354C>A, 17882155, NC_000017.11:g.7676154G>A, NC_000017.11:g.7676154G>C, XR_243565.1:n.354C>G, NM_001126113.2:c.215C>G, NC_000017.11:g.7676154=, NP_001119585.1:p.Pro72=, NP_001119585.1:p.Pro72Arg, NP_001119586.1:p.Pro72His, NG_017013.2:g.16397C>T, NG_017013.2:g.16397C=, 60388830, NM_001126115.1:c.-939C>A, NM_001126116.1:c.-939C>A, 17857747, NM_001126117.1:c.-939C>G, NM_000546.5:c.215C=, NM_000546.5:c.215C>G, NG_017013.2:g.16397C>A, NG_017013.2:g.16397C>G, NM_001126115.1:c.-939C>G, NM_001126117.1:c.-939C>A, NM_000546.5:c.215C>A, NM_001126116.1:c.-939C>G, rs17844988, NM_001276761.1:c.98C>A, rs17882155, NP_001263689.1:p.Pro33=, NP_000537.3:p.Pro72His, NM_001276761.1:c.98C>G, NP_001263689.1:p.Pro33His, rs3174747, 3174747, NC_000017.10:g.7579472=, NM_001276698.1:c.-1020C>G, NP_001119586.1:p.Pro72Arg, NP_001119585.1:p.Pro72His, 1042522, NM_001276698.1:c.-1020C>A, NP_001263624.1:p.Pro33His, NP_001119584.1:p.Pro72Arg, NM_001276760.1:c.98C>G, NP_001263624.1:p.Pro33Arg, NP_001263690.1:p.Pro33His, NC_000017.10:g.7579472G>T, NM_001276760.1:c.98C>A, XM_005256778.1:c.176-21C>G, XM_005256778.1:c.176-21C>A, rs60388830, NP_000537.3:p.Pro72Arg, 17844988, NM_001126114.2:c.215C=, NC_000017.10:g.7579472G>C, NP_001263689.1:p.Pro33Arg, NC_000017.11:g.7676154G>T +PA166155911 rs1042580 PA36496 THBD NC_000020.11:23046984 1 1 0 0 0 rs1042580, NC_000020.11:g.23046984T>C, NC_000020.10:g.23027621T>C, NC_000020.11:g.23046984=, NG_012027.1:g.7681A>G, NM_000361.2:c.*793A>G, 3167753, rs3167753, NG_012027.1:g.7681=, NC_000020.10:g.23027621=, 1042580 +PA166155614 rs1042597 PA37183 UGT1A8 NC_000002.12:233618225 9 2 0 0 0 NP_061949.3:p.Ala173Gly, rs13387262, NC_000002.11:g.234526871C>T, NM_019076.4:c.518C>G, rs17862843, NG_002601.2:g.33482=, 117092283, rs117092283, NC_000002.12:g.233618225C>A, 17862843, NC_000002.11:g.234526871=, NP_061949.3:p.Ala173Val, NC_000002.12:g.233618225C>G, NC_000002.12:g.233618225=, rs56696602, NG_002601.2:g.33482C>T, NG_002601.2:g.33482C>G, rs2071043, 2071043, NP_061949.3:p.Ala173=, NC_000002.12:g.233618225C>T, NG_002601.2:g.33482C>A, NC_000002.11:g.234526871C>G, 13387262, NC_000002.11:g.234526871C>A, 56696602, 1042597, rs1042597, NP_061949.3:p.Ala173Asp +PA166155615 rs1042605 PA37183 UGT1A8 NC_000002.12:233618472 1 0 0 0 0 NC_000002.12:g.233618472A>T, rs17868307, NC_000002.12:g.233618472=, NG_002601.2:g.33729=, 58240369, NC_000002.11:g.234527118A>T, NG_002601.2:g.33729A>T, 1042605, rs1042605, 17868307, NC_000002.12:g.233618472A>G, NC_000002.11:g.234527118A>G, NM_019076.4:c.765A>G, NG_002601.2:g.33729A>G, NP_061949.3:p.Thr255=, NC_000002.11:g.234527118=, rs58240369 +PA166156303 rs1042636 PA26097 CASR NC_000003.12:122284922 1 0 0 0 0 NG_009058.1:g.106240A>G, NG_009058.2:g.106255=, NP_000379.2:p.Arg990Gly, XM_005247837.2:c.2485A>G, XM_005247836.1:c.2968A>G, XM_006713789.2:c.2968A>G, 52829576, XM_011513239.1:c.2380A>G, XP_011511539.1:p.Arg990Gly, NG_009058.2:g.106255A>G, NC_000003.12:g.122284922A>G, NC_000003.11:g.122003769=, NP_000379.3:p.Arg990Gly, XM_011513238.1:c.2968A>G, rs52829576, rs3804596, rs59615814, 3804596, XM_011513237.1:c.2968A>G, XP_011511541.1:p.Arg794Gly, NM_000388.3:c.2968A>G, XM_005247837.1:c.2485A>G, XM_005247836.2:c.2968A>G, NC_000003.11:g.122003769A>G, XP_006713852.1:p.Arg990Gly, XP_005247894.1:p.Arg829Gly, 1042636, NC_000003.12:g.122284922=, NP_001171536.1:p.Arg1000Gly, NM_001178065.1:c.2998A>G, NG_009058.1:g.106240=, rs1042636, NP_000379.3:p.Arg990=, XP_011511540.1:p.Arg990Gly, 59615814, XP_005247893.1:p.Arg990Gly +PA166155454 rs10426377 PA36249 SULT2B1 NC_000019.10:48588977 2 1 0 0 0 10426377, NC_000019.10:g.48588977C>A, NM_177973.1:c.423+1540C>A, NC_000019.9:g.49092234C>A, 61651031, NC_000019.10:g.48588977=, rs61651031, NG_029063.1:g.41806=, XM_005259182.2:c.-228C>A, rs10426377, NG_029063.1:g.41806C>A, NM_004605.2:c.378+1540C>A, NC_000019.9:g.49092234=, XM_005259182.1:c.-228C>A +PA166155616 rs1042640 PA164720351,PA37173,PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 MROH2A,UGT1A,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233772898 3 3 0 0 0 NG_051337.1:g.2237G>C, NG_051337.1:g.2237G>A, rs17190748, NG_033238.1:g.17626G>C, NG_002601.2:g.188155G>T, NG_033238.1:g.17626G>A, NM_021027.2:c.*339G>C, NC_000002.12:g.233772898G>T, NG_033238.1:g.17626=, rs35909575, NM_019075.2:c.*339G>C, XR_241238.1:n.2134G>C, NC_000002.11:g.234681544G>T, NG_033238.1:g.17626G>T, NM_007120.2:c.*339G>C, rs1042640, NM_019076.4:c.*339G>C, 1042640, NM_019077.2:c.*339G>C, NM_000463.2:c.*339G>C, NG_051337.1:g.2237=, NC_000002.12:g.233772898=, NC_000002.11:g.234681544G>A, NC_000002.11:g.234681544G>C, NC_000002.11:g.234681544=, 61636700, rs61636700, NG_002601.2:g.188155=, NM_001072.3:c.*339G>C, NM_019078.1:c.*339G>C, NG_002601.2:g.188155G>A, NM_019093.2:c.*339G>C, NG_002601.2:g.188155G>C, NG_051337.1:g.2237G>T, NC_000002.12:g.233772898G>A, NC_000002.12:g.233772898G>C, 35909575, NM_205862.1:c.*339G>C, 17190748 +PA166155455 rs10426628 PA36249 SULT2B1 NC_000019.10:48589173 1 0 0 0 0 NG_029063.1:g.42002A>G, rs10426628, 57560171, NC_000019.10:g.48589173=, rs57560171, XM_005259182.2:c.-32A>G, 10426628, NM_004605.2:c.378+1736A>G, NM_177973.1:c.423+1736A>G, XM_005259182.1:c.-32A>G, NC_000019.9:g.49092430A>G, NC_000019.10:g.48589173A>G, NC_000019.9:g.49092430=, NG_029063.1:g.42002= +PA166156747 rs1042711 PA39 ADRB2 NC_000005.10:148826785 1 0 0 0 0 rs17858182, NG_016421.1:g.5193C>T, rs17707784, rs17287467, rs58812959, NC_000005.9:g.148206348C>T, NG_016421.2:g.5193C>G, 58812959, NC_000005.10:g.148826785C>T, XM_005268382.1:c.-47C>T, NC_000005.10:g.148826785C>G, NG_016421.2:g.5193=, NG_016421.2:g.5193C>A, 17287467, NG_016421.1:g.5193=, rs17845337, 17334193, NC_000005.10:g.148826785C>A, NG_016421.2:g.5193C>T, NM_000024.5:c.-47C>T, rs17334193, NC_000005.10:g.148826785=, 17845337, rs17334186, 17707784, 17858182, 1042711, NG_016421.1:g.5193C>G, XM_005268383.1:c.-47C>T, rs1042711, rs17859731, 17859731, NC_000005.9:g.148206348C>A, NC_000005.9:g.148206348=, NC_000005.9:g.148206348C>G, NG_016421.1:g.5193C>A, rs3729942, 17334186, 3729942 +PA166156748 rs1042713 PA39 ADRB2 NC_000005.10:148826877 52 15 1 0 0 rs17846639, NP_000015.1:p.Arg16Gly, NG_016421.2:g.5285G>A, 17859732, NG_016421.2:g.5285G>C, XP_005268440.1:p.Gly16=, NC_000005.9:g.148206440G>A, NP_000015.1:p.Arg16=, XM_005268382.1:c.46G>A, NC_000005.9:g.148206440G>C, rs17334179, NC_000005.9:g.148206440=, 56964295, NC_000005.10:g.148826877G>C, NC_000005.10:g.148826877G>A, NG_016421.1:g.5285A=, NG_016421.1:g.5285A>C, NM_000024.5:c.46A=, NG_016421.1:g.5285A>G, rs17287432, NP_000015.2:p.Gly16Arg, XP_005268440.1:p.Gly16Arg, NC_000005.10:g.148826877G=, rs56964295, NM_000024.5:c.46A>G, rs17334242, rs1042713, rs52812686, rs3729940, NG_016421.2:g.5285=, XP_005268439.1:p.Gly16=, 17721693, XP_005268439.1:p.Gly16Arg, 17839749, XM_005268383.1:c.46G=, 3182174, NC_000005.10:g.148826877=, 17334179, rs3182174, 17846639, XM_005268382.1:c.46G=, NP_000015.2:p.Gly16=, NC_000005.9:g.148206440G=, 1042713, XM_005268383.1:c.46G>A, rs17721693, rs17859732, 52812686, 17287432, 3729940, 17334242, rs17839749 +PA166156749 rs1042714 PA39 ADRB2 NC_000005.10:148826910 26 5 0 0 0 NG_016421.1:g.5318C>A, NP_000015.1:p.Gln27Glu, 17859733, NG_016421.1:g.5318C=, NG_016421.2:g.5318=, NG_016421.1:g.5318C>G, NP_000015.2:p.Glu27Ter, NC_000005.9:g.148206473G=, rs17858183, XP_005268439.1:p.Glu27=, 52793394, NP_000015.2:p.Glu27Lys, rs60374884, NG_016421.1:g.5318C>T, rs17287474, XM_005268383.1:c.79G=, XM_005268382.1:c.79G>C, 17845338, rs1042714, NC_000005.10:g.148826910G=, NP_000015.2:p.Glu27Gln, rs17334200, rs17640526, 17287411, rs3729941, NC_000005.10:g.148826910G>C, NC_000005.10:g.148826910G>A, NM_000024.5:c.79C>G, XM_005268383.1:c.79G>C, 17640526, XM_005268382.1:c.79G=, NP_000015.2:p.Glu27=, 60374884, 3182175, NC_000005.10:g.148826910=, XP_005268439.1:p.Glu27Gln, rs3182175, XP_005268440.1:p.Glu27Gln, rs17845338, NC_000005.9:g.148206473G>A, NG_016421.2:g.5318G>A, NC_000005.9:g.148206473G>C, rs52793394, NG_016421.2:g.5318G>C, rs17287411, XP_005268440.1:p.Glu27=, NC_000005.10:g.148826910G>T, NP_000015.1:p.Gln27=, 1042714, 17858183, rs17859733, 17287474, NC_000005.9:g.148206473G>T, NG_016421.2:g.5318G>T, 3729941, NM_000024.5:c.79C=, 17334200, NC_000005.9:g.148206473= +PA166160473 rs1042718 PA39 ADRB2 NC_000005.10:148827354 4 2 0 0 0 17334172, NC_000005.9:g.148206917=, NC_000005.9:g.148206917C>A, 17845340, rs1042718, 1042718, NC_000005.10:g.148827354C>T, NG_016421.1:g.5762=, NG_016421.2:g.5762C>A, NC_000005.9:g.148206917C>T, 57156673, NG_016421.1:g.5762C>A, 3729495, 17334235, NG_016421.1:g.5762C>T, NC_000005.10:g.148827354=, 17287425, 17858185, NC_000005.10:g.148827354C>A, NG_016421.2:g.5762C>T, NP_000015.2:p.Arg175Trp, NG_016421.2:g.5762=, NP_000015.2:p.Arg175= +PA166160480 rs1042719 PA39 ADRB2 NC_000005.10:148827884 2 0 0 0 0 61518692, NC_000005.9:g.148207447G>A, 3729607, NC_000005.9:g.148207447=, NG_016421.2:g.6292=, 1042719, rs1042719, NG_016421.1:g.6292=, NC_000005.10:g.148827884G>A, NG_016421.2:g.6292G>A, NC_000005.10:g.148827884G>C, NG_016421.2:g.6292G>C, NC_000005.10:g.148827884=, NG_016421.1:g.6292G>A, NP_000015.2:p.Gly351=, NC_000005.9:g.148207447G>C, NG_016421.1:g.6292G>C +PA166154309 rs1042858 PA298 RRM1 NC_000011.10:4138236 6 1 0 0 0 rs2229195, NM_001033.3:c.2232G>A, 2229195, 3168060, rs57259172, NG_027992.2:g.48543=, rs3168060, 17850107, NC_000011.9:g.4159466G>T, XM_011520277.1:c.1941G>A, XM_005253059.1:c.1941G>A, NG_027992.2:g.48543G>T, NC_000011.10:g.4138236G>A, XP_011518579.1:p.Ala647=, NC_000011.9:g.4159466G>A, NP_001304993.1:p.Ala647=, XP_011518581.1:p.Ala406=, NG_027992.2:g.48543G>A, NP_001024.1:p.Ala744=, rs2584873, 2584873, NM_001318065.1:c.1218G>A, XP_005253116.1:p.Ala647=, NC_000011.10:g.4138236G>T, XP_005253115.1:p.Ala663=, 1042858, NM_001318064.1:c.1941G>A, rs1042858, XM_011520279.1:c.1218G>A, NC_000011.9:g.4159466=, XM_005253058.1:c.1989G>A, 57259172, NP_001304994.1:p.Ala406=, NC_000011.10:g.4138236=, NM_001033.4:c.2232G>A, XM_011520278.1:c.1566G>A, XP_011518580.1:p.Ala522=, rs17850107 +PA166154310 rs1042919 PA298 RRM1 NC_000011.10:4138534 1 1 0 0 0 NM_001318065.1:c.*151A>T, NM_001318064.1:c.*151A>T, rs57133330, 1042919, rs1042919, NC_000011.10:g.4138534A>G, NG_027992.2:g.48841A>T, NM_001033.3:c.*151A>T, NC_000011.9:g.4159764=, NC_000011.10:g.4138534=, NC_000011.10:g.4138534A>C, NC_000011.9:g.4159764A>T, 57133330, NC_000011.9:g.4159764A>G, NG_027992.2:g.48841A>G, NC_000011.10:g.4138534A>T, NG_027992.2:g.48841=, NC_000011.9:g.4159764A>C, XM_011520279.1:c.*151A>T, NM_001033.4:c.*151A>T, XM_011520277.1:c.*151A>T, 1662169, XM_005253058.1:c.*151A>T, rs1662169, 3168059, NG_027992.2:g.48841A>C, XM_005253059.1:c.*151A>T, rs3168059, XM_011520278.1:c.*151A>T +PA166154311 rs1042927 PA298 RRM1 NC_000011.10:4138699 3 1 0 0 0 NC_000011.10:g.4138699C>A, XM_011520279.1:c.*316C>A, NM_001033.4:c.*316C>A, XM_011520278.1:c.*316C>A, NC_000011.10:g.4138699C>G, NG_027992.2:g.49006C>G, NG_027992.2:g.49006=, XM_011520277.1:c.*316C>A, NM_001318065.1:c.*316C>A, NM_001318064.1:c.*316C>A, NG_027992.2:g.49006C>A, NC_000011.10:g.4138699=, NC_000011.9:g.4159929C>G, NC_000011.9:g.4159929C>A, NM_001033.3:c.*316C>A, rs16930058, XM_005253058.1:c.*316C>A, 58834141, XM_005253059.1:c.*316C>A, NC_000011.9:g.4159929C>T, NC_000011.9:g.4159929=, rs1042927, 1042927, 16930058, NC_000011.10:g.4138699C>T, rs58834141, 1735067, rs1735067, rs3168058, 3168058, NG_027992.2:g.49006C>T +PA166185418 rs10432303 PA33329 PIP5K1C NC_000019.10:3656654 1 1 0 0 0 NC_000019.9:g.3656652G>A, 10432303, NG_012161.2:g.48794C>T, NG_012161.2:g.48794=, NC_000019.10:g.3656654=, NC_000019.10:g.3656654G>A, NG_012161.1:g.48794=, rs10432303, NC_000019.9:g.3656652=, NG_012161.1:g.48794C>T +PA166281321 rs10433340 PA134861585 PARP14 NC_000003.12:122715083 1 0 0 0 0 NC_000003.12:g.122715083G>A, NC_000003.11:g.122433930=, rs10433340, NC_000003.12:g.122715083=, NC_000003.12:g.122715083G>C, NC_000003.11:g.122433930G>A, NG_051076.1:g.39358=, NG_051076.1:g.39358G>A, NG_051076.1:g.39358G>C, NC_000003.11:g.122433930G>C, 10433340, 59004757 +PA166156904 rs10434 PA37302 VEGFA NC_000006.12:43785475 1 0 0 0 0 NC_000006.12:g.43785475=, 3173233, NC_000006.12:g.43785475A>G, NC_000006.11:g.43753212A>C, NM_001171629.1:c.*847A>G, NC_000006.11:g.43753212A>G, NM_001025366.2:c.*913A>G, NM_001025367.2:c.*913A>G, NC_000006.12:g.43785475A>C, NG_008732.1:g.20260A>T, NM_001025368.2:c.*913A>G, NM_001287044.1:c.*913A>G, rs3173233, NM_001171630.1:c.*913A>G, 60316096, NC_000006.11:g.43753212A>T, NM_001171627.1:c.*929A>G, NM_003376.5:c.*913A>G, NC_000006.12:g.43785475A>T, NM_001317010.1:c.*847A>G, NM_001033756.2:c.*847A>G, NM_001025369.2:c.*929A>G, rs60316096, 10434, NM_001171628.1:c.*913A>G, NM_001171626.1:c.*913A>G, NM_001025370.2:c.*913A>G, NM_001204384.1:c.*913A>G, NG_008732.1:g.20260=, NM_001204385.1:c.*913A>G, XM_005249363.1:c.*913A>G, NM_001171622.1:c.*913A>G, rs10434, NM_001171624.1:c.*913A>G, NM_001171625.1:c.*913A>G, NG_008732.1:g.20260A>C, NC_000006.11:g.43753212=, NM_001171623.1:c.*913A>G, NG_008732.1:g.20260A>G +PA166160093 rs10435183 PA38657 GLCCI1 NC_000007.14:8037729 1 0 0 0 0 60120697, NC_000007.14:g.8037729=, NC_000007.14:g.8037729G>A, NC_000007.13:g.8077359G>A, NG_032073.1:g.73986G>A, NG_032073.1:g.73986=, 200916401, rs10435183, 10435183, NC_000007.13:g.8077359=, 74436573 +PA166157283 rs1043550 PA26047 CALU NC_000007.14:128769171 6 1 0 0 0 NC_000007.13:g.128409225A>G, NR_074086.1:n.678A>G, NG_033110.1:g.34880=, NC_000007.14:g.128769171=, 61381822, rs11545537, 17475700, NM_001130674.2:c.*4A>G, NM_001199672.1:c.*4A>G, NC_000007.14:g.128769171A>G, NG_033110.1:g.34880A>G, NM_001199673.1:c.*77A>G, rs17475700, 11545537, rs3183116, NM_001199671.1:c.*4A>G, 3183116, XM_011516588.1:c.*4A>G, NC_000007.13:g.128409225=, NM_001219.4:c.*4A>G, 1043550, rs1043550, rs61381822 +PA166156972 rs1043620 PA29498,PA29500 HSPA1A,HSPA1L NC_000006.12:31815978 1 1 0 0 0 XM_005249074.1:c.-411A>G, NC_000006.12:g.31815978T>G, XM_011547247.1:c.-911G>A, NC_000006.12:g.31815978T>A, NC_000006.12:g.31815978T>C, NT_167248.1:g.3077402C=, XM_005249067.1:c.75+147T>C, XM_005272816.1:c.-13-3992G>A, XM_005275401.2:c.-13-3992G>A, XM_005274968.1:c.222C=, NC_000006.11:g.31783755=, XM_011547246.1:c.-13-3992G>A, NT_167244.2:g.3148600C>T, XM_005275396.1:c.222C=, XM_005272814.1:c.-411G>A, XM_005249073.1:c.-13-3993A>G, XM_005272811.1:c.222C>T, XM_005274860.1:c.-13-3993A>G, XM_005272816.2:c.-13-3992A>G, XM_005275398.1:c.-411G>A, XM_011547652.1:c.-13-3993G>A, XM_005274858.1:c.-411G=, NT_167245.1:g.3069342C>T, XM_005275401.1:c.-13-3992A>G, XM_005274971.1:c.-411A>G, NT_167244.1:g.3098516C=, XM_005274972.1:c.-13-3993G>A, XM_011546311.1:c.-13-3993A>G, XM_005272817.1:c.-542A>G, NG_011855.1:g.4081A>T, XM_005274970.3:c.-911G>A, XM_005274859.3:c.-911G>A, XM_005272811.1:c.222C=, XM_005275399.1:c.-911A>G, rs9267568, 28491949, XP_005249125.1:p.Ile74=, NG_011855.1:g.4081A>C, NT_113891.3:g.3293229C>T, XM_005249072.1:c.-13-3993G>A, NG_011855.1:g.4081A>G, 147375166, NC_000006.11:g.31783755T>A, NC_000006.11:g.31783755T>C, XM_005249067.1:c.75+147C>T, NC_000006.11:g.31783755T>G, NT_113891.3:g.3293229C=, XM_005274973.1:c.-13-3993A>G, XM_005274974.1:c.-542G>A, XM_005274859.1:c.-911A>G, XM_005274970.1:c.-911A>G, XM_005249070.3:c.-911G>A, XM_005272815.1:c.-13-3992G>A, NT_167248.1:g.3077402C>T, XM_005275400.1:c.-13-3992G>A, NM_005527.3:c.-1103G>A, XM_005249071.1:c.-542A>G, rs147375166, XM_005275402.1:c.-542A>G, XM_005274861.2:c.-13-3993G>A, NT_167244.2:g.3148600C=, XM_005272813.1:c.-911A>G, XM_005249070.1:c.-911A>G, XM_005249068.1:c.222T>C, XM_011548238.1:c.-13-3992G>A, XM_005274973.2:c.-13-3993A>G, XM_005274862.1:c.-542A>G, NT_113891.2:g.3293335C=, XM_005249073.2:c.-13-3993A>G, XM_005274861.1:c.-13-3993G>A, 9267568, XM_011548239.1:c.-911G>A, XM_011514566.1:c.-13-3993G>A, rs28491949, rs1043620, XM_005249074.1:c.-411G>A, NC_000006.12:g.31815978T=, 113597419, NC_000006.11:g.31783755T=, XM_011547247.1:c.-911A>G, XM_005272816.1:c.-13-3992A>G, XM_005275401.2:c.-13-3992A>G, rs113597419, XM_011547246.1:c.-13-3992A>G, XP_005272868.1:p.Ile74=, XM_005272814.1:c.-411A>G, XM_005274856.1:c.222C=, XM_005249073.1:c.-13-3993G>A, XM_005274860.1:c.-13-3993G>A, XM_005275398.1:c.-411G=, XM_005272816.2:c.-13-3992G>A, XM_011547652.1:c.-13-3993A>G, XM_005275401.1:c.-13-3992G>A, XM_005274971.1:c.-411G>A, XM_005274972.1:c.-13-3993A>G, XM_011546311.1:c.-13-3993G>A, XM_005272817.1:c.-542G>A, XM_005274858.1:c.-411G>A, NT_113891.2:g.3293335C>T, NP_005336.3:p.Ile74Met, XM_005274970.3:c.-911A>G, NC_000006.12:g.31815978=, XM_005274859.3:c.-911A>G, XM_005275399.1:c.-911G>A, 1043620, NM_005345.5:c.222T=, XM_005249072.1:c.-13-3993A>G, XM_005275395.1:c.75+147C>T, XP_005274913.1:p.Ile74=, NT_167245.1:g.3069342C=, NG_046363.1:g.829T>C, NG_046363.1:g.829T>A, XM_005274973.1:c.-13-3993G>A, XM_005274974.1:c.-542A>G, XM_005274859.1:c.-911G>A, XM_005274856.1:c.222C>T, XM_005275396.1:c.222C>T, NT_167245.2:g.3063757C=, NG_046363.1:g.829T>G, XM_005274970.1:c.-911G>A, NP_005336.3:p.Ile74=, XM_005274968.1:c.222C>T, XM_005249070.3:c.-911A>G, XM_005272815.1:c.-13-3992A>G, XM_005275400.1:c.-13-3992A>G, NM_005527.3:c.-1103A>G, XP_005275025.1:p.Ile74=, XM_005249071.1:c.-542G>A, NT_167244.1:g.3098516C>T, NG_011855.1:g.4081=, XM_005275402.1:c.-542G>A, XM_005274861.2:c.-13-3993A>G, NG_046363.1:g.829=, XM_005272813.1:c.-911G>A, XM_005249070.1:c.-911G>A, XM_011548238.1:c.-13-3992A>G, XM_005274973.2:c.-13-3993G>A, XM_005274862.1:c.-542G>A, XM_005249068.1:c.222T=, NT_167248.2:g.3071806C>T, NT_167248.2:g.3071806C=, XM_005249073.2:c.-13-3993G>A, XP_005275453.1:p.Ile74=, XM_005274861.1:c.-13-3993A>G, NM_005345.5:c.222T>C, NT_167245.2:g.3063757C>T, XM_011548239.1:c.-911A>G, XM_011514566.1:c.-13-3993A>G, NG_011855.1:g.4081A=, XM_005275395.1:c.75+147T>C +PA166161794 rs1043657 PA24682 AKR7A2 NC_000001.11:19308517 2 0 0 0 0 NP_003680.2:p.Ala142=, 386512960, 1043657, rs1043657, NC_000001.10:g.19635011=, NC_000001.10:g.19635011C>G, NC_000001.11:g.19308517C>G, NP_003680.2:p.Ala142Thr, NP_003680.2:p.Ala142Pro, NC_000001.11:g.19308517C>T, NC_000001.10:g.19635011C>T, NC_000001.11:g.19308517= +PA166153607 rs1043879 PA142672513 RSRP1 NC_000001.11:25243590 1 0 0 0 0 rs17844932, 57469912, XR_241196.1:n.2280A>G, XR_946712.1:n.1858A>G, XR_241199.1:n.1858A>G, NC_000001.10:g.25570081T>C, XP_011540099.1:p.Glu239Gly, NC_000001.11:g.25243590=, XR_946709.1:n.2280A>G, NC_000001.10:g.25570081=, 1043879, 17844932, XM_011541797.1:c.716A>G, rs1043879, rs17859787, NP_064713.3:p.Glu239=, XM_011541798.1:c.*79A>G, 17857662, XR_946711.1:n.1689A>G, NR_135144.1:n.1584A>G, XR_241197.1:n.1962A>G, 17859787, XR_241198.1:n.1689A>G, XR_946710.1:n.1962A>G, rs17857662, XR_946713.1:n.1584A>G, rs57469912, XR_241201.1:n.1038A>G, NC_000001.11:g.25243590T>C, XR_241200.1:n.1629A>G, NP_064713.3:p.Glu239Gly, NM_020317.4:c.716A>G, NR_135143.1:n.2509A>G +PA166207121 rs1044147 PA34433 PCGF3 NC_000004.12:769289 1 0 0 0 0 NC_000004.12:g.769289=, 3172654, 58271634, NC_000004.11:g.763077G>A, NC_000004.12:g.769289G>A, 1044147, rs1044147, NC_000004.11:g.763077= +PA166183681 rs1044394 PA26490 CHRNA4 NC_000020.11:63350733 1 1 0 0 0 1044394, rs1044394, NP_000735.1:p.Cys226Trp, NC_000020.10:g.61982085=, 61675844, NG_011931.1:g.15611=, 117337741, NC_000020.11:g.63350733=, NG_011931.1:g.15611T>C, NC_000020.10:g.61982085A>G, NC_000020.11:g.63350733A>C, NG_011931.1:g.15611T>G, NP_000735.1:p.Cys226=, 3184141, 386512997, NC_000020.10:g.61982085A>C, NC_000020.11:g.63350733A>G +PA166155912 rs1044396 PA26490 CHRNA4 NC_000020.11:63349782 7 3 0 0 0 XP_005260248.1:p.Ser367=, XP_005260247.1:p.Ser367=, NC_000020.10:g.61981134G>A, NC_000020.10:g.61981134G>C, XP_005260246.1:p.Ser472=, NC_000020.11:g.63349782G>C, NC_000020.11:g.63349782G>A, NP_001243502.1:p.Ser367=, NG_011931.1:g.16562C>G, NM_001256573.1:c.1101C>T, NP_000735.1:p.Ser543=, XM_005260189.1:c.1416C>T, NM_000744.6:c.1629C>T, NG_011931.1:g.16562C>T, NR_046317.1:n.1885C>T, NG_011931.1:g.16562=, XP_011526826.1:p.Ser472=, 3746385, rs3746385, XM_011528524.1:c.1416C>T, XM_005260191.1:c.1101C>T, XM_005260190.1:c.1101C>T, NC_000020.11:g.63349782=, NP_000735.1:p.Ser543Arg, rs3184143, NC_000020.10:g.61981134=, 1044396, 3184143, rs1044396 +PA166155913 rs1044397 PA26490 CHRNA4 NC_000020.11:63349752 2 1 0 0 0 NM_001256573.1:c.1131G>A, NP_000735.1:p.Ala553=, XM_005260190.1:c.1131G>A, XM_005260191.1:c.1131G>A, XP_011526826.1:p.Ala482=, NC_000020.11:g.63349752C>T, XP_005260247.1:p.Ala377=, XP_005260248.1:p.Ala377=, XP_005260246.1:p.Ala482=, XM_011528524.1:c.1446G>A, NG_011931.1:g.16592=, rs3746384, 3746384, NC_000020.11:g.63349752C>G, NC_000020.11:g.63349752=, NP_001243502.1:p.Ala377=, XM_005260189.1:c.1446G>A, NC_000020.10:g.61981104C>G, NG_011931.1:g.16592G>A, NC_000020.10:g.61981104=, NR_046317.1:n.1915G>A, NC_000020.10:g.61981104C>T, 1044397, rs1044397, NM_000744.6:c.1659G>A, NG_011931.1:g.16592G>C, rs3184144, 3184144 +PA166181286 rs10444413 PA134865839 SLCO1B1 NC_000012.12:21164734 1 0 0 0 0 NC_000012.12:g.21164734=, NC_000012.12:g.21164734T>C, 10444413, NC_000012.11:g.21317668T>C, NC_000012.11:g.21317668=, NG_011745.1:g.38541=, 17329340, rs10444413, NG_011745.1:g.38541T>C +PA166153608 rs1044457 PA162382539 CMPK1 NC_000001.11:47377105 3 1 0 0 0 NR_046394.1:n.1119C>T, rs17378832, NC_000001.11:g.47377105C>T, NM_016308.2:c.*360C>T, NC_000001.10:g.47842777C>T, NC_000001.11:g.47377105=, 17378832, NM_001136140.1:c.*360C>T, rs3184215, NC_000001.10:g.47842777C>A, 3184215, NC_000001.11:g.47377105C>A, NC_000001.10:g.47842777=, 1044457, rs1044457, 3767626, rs3767626 +PA166155787 rs10445704 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233691628 2 1 1 0 0 NC_000002.11:g.234600274=, NC_000002.12:g.233691628=, rs17862643, NG_002601.2:g.106885=, rs10445704, NG_002601.2:g.106885G>A, NM_001072.3:c.-1377G>A, NM_019075.2:c.855+54251G>A, NC_000002.11:g.234600274G>A, 10445704, NM_205862.1:c.-200G>A, XM_005246081.1:c.*1067G>A, 17862643, XR_241240.1:n.-1216G>A, NM_019077.2:c.855+8836G>A, NC_000002.12:g.233691628G>A, NM_021027.2:c.855+18839G>A, XR_241241.1:n.941+18839G>A, NM_019076.4:c.855+73066G>A +PA166155174 rs1045280 PA60 ARRB2 NC_000017.11:4719343 9 2 0 0 0 NP_004304.1:p.Ser280=, 34094276, NM_001257329.1:c.786+54C>T, XM_006721520.1:c.264C>T, XP_006721583.1:p.Ser88=, NP_001244257.1:p.Ser301=, NC_000017.11:g.4719343C>T, XP_011522160.1:p.Ser311=, NP_001244260.1:p.Ser265=, NM_001257330.1:c.840C>T, 3185169, NP_001244259.1:p.Ser280=, rs3185169, NR_047516.1:n.1037C>T, XM_006721521.1:c.264C>T, XP_006721584.1:p.Ser88=, XM_011523858.1:c.933C>T, NM_001257328.1:c.903C>T, NP_945355.1:p.Ser265=, 17850192, NC_000017.10:g.4622638C>T, XM_011523859.1:c.888C>T, 1045280, NC_000017.10:g.4622638=, rs60822060, NM_004313.3:c.840C>T, NC_000017.11:g.4719343=, rs17850192, NM_001257331.1:c.795C>T, XP_011522161.1:p.Ser296=, rs1045280, NM_199004.1:c.795C>T, rs34094276, 60822060 +PA166154692 rs1045411 PA188 HMGB1 NC_000013.11:30459095 1 0 0 0 0 rs1045411, NC_000013.11:g.30459095=, rs3185290, rs74242030, 3185290, NM_002128.5:c.*2262G>A, NC_000013.10:g.31033232=, 17662679, NM_001313893.1:c.*2262G>A, NM_001313892.1:c.*2262G>A, 74242030, rs17662679, NC_000013.10:g.31033232C>T, 1045411, NC_000013.11:g.30459095C>T +PA166157168 rs10455872 PA30432 LPA NC_000006.12:160589086 8 3 0 0 0 NC_000006.11:g.161010118=, NG_016147.1:g.82290=, XM_005266985.1:c.3785+467T>C, NC_000006.12:g.160589086A>G, NG_016147.1:g.82290T>C, NC_000006.12:g.160589086=, rs10455872, 10455872, NM_005577.2:c.3947+467T>C, NC_000006.11:g.161010118A>G +PA166157284 rs1045642 PA267 ABCB1 NC_000007.14:87509329 689 110 0 0 0 17210003, NP_000918.2:p.Ile1145Met, 386513066, NC_000007.14:g.87509329A>T, rs386513066, NG_011513.1:g.208920=, NM_000927.4:c.3435T>C, NC_000007.14:g.87509329A>G, rs10239679, NC_000007.13:g.87138645=, 60023214, NC_000007.14:g.87509329A>C, NG_011513.1:g.208920T>G, NG_011513.1:g.208920T>C, rs9690664, NG_011513.1:g.208920T>A, 10239679, NC_000007.13:g.87138645A>C, rs60023214, 9690664, rs1045642, rs11568726, 117328163, rs117328163, 11568726, NC_000007.13:g.87138645A>G, NC_000007.13:g.87138645A>T, NP_000918.2:p.Ile1145=, NC_000007.14:g.87509329=, rs17210003, rs2229108, C3435T, 2229108, 1045642 +PA166183369 rs1045644 PA26693 COCH NC_000014.9:30885890 1 0 0 0 0 NG_008211.2:g.16356C>G, 386430479, NP_004077.1:p.Thr352=, rs1045644, NG_008211.2:g.16356=, 52825530, NP_004077.1:p.Thr352Ser, 17367681, NC_000014.8:g.31355096C>G, 2076681, 1045644, 3168862, NC_000014.9:g.30885890C>G, NC_000014.8:g.31355096=, NC_000014.9:g.30885890= +PA166177793 rs10457090 PA31945 OPRM1 NC_000006.12:154069938 3 2 0 0 0 56575485, NC_000006.12:g.154069938A>G, NC_000006.11:g.154391073=, NG_021208.2:g.64438=, 10457090, rs10457090, NG_021208.2:g.64438A>T, NG_021208.2:g.64438A>G, NC_000006.12:g.154069938=, NC_000006.11:g.154391073A>G, NC_000006.12:g.154069938A>T, NC_000006.11:g.154391073A>T +PA166153800 rs10458360 PA56 FASLG NC_000001.11:172664835 1 0 0 0 0 rs60231082, NM_001302746.1:c.*21+445G>C, 17279462, NC_000001.11:g.172664835=, NG_007269.1:g.10791G>C, rs10458360, NC_000001.11:g.172664835G>C, NG_007269.1:g.10791=, 10458360, NC_000001.10:g.172633975=, NM_000639.1:c.451+445G>C, rs17279462, 60231082, NC_000001.10:g.172633975G>C, NM_000639.2:c.451+445G>C +PA166223162 rs1046248 PA80 BDKRB2 NC_000014.9:96237147 1 0 0 0 0 rs1046248, 1046248, 17191331, NC_000014.9:g.96237147=, NC_000014.8:g.96703484C>T, 57649699, NP_000614.1:p.Arg14Cys, 1800772, NP_000614.1:p.Arg14=, 3186219, 52804895, NC_000014.9:g.96237147C>T, NC_000014.8:g.96703484= +PA166154771 rs1046428 PA29031,PA134980627 GSTZ1,POMT2 NC_000014.9:77327940 2 0 0 0 0 NC_000014.8:g.77794283=, NM_145870.2:c.245T>C, NP_665877.1:p.Met82Lys, 17750852, rs1046428, 1046428, NC_000014.9:g.77327940=, 56808754, XM_005267558.1:c.219+388T>C, XM_005267559.1:c.80T>C, XM_005267559.2:c.80T>C, rs56808754, XM_011536670.1:c.128T>C, rs3168940, 3168940, NP_001299589.1:p.Met27Thr, XP_005267616.1:p.Met27Thr, XM_005267557.1:c.248T>C, NM_001513.3:c.80T>C, NC_000014.8:g.77794283T>C, NM_145871.2:c.216+388T>C, NP_001504.2:p.Met27Thr, XP_011534972.1:p.Met43Thr, NM_001312660.1:c.80T>C, NC_000014.8:g.77794283T>A, 52794158, rs17750852, NC_000014.9:g.77327940T>A, NC_000014.9:g.77327940T>C, NP_665877.1:p.Met82Thr, NP_665877.1:p.Met82=, XM_011536671.1:c.219+388T>C, rs52794158, XP_005267614.1:p.Met83Thr +PA166256563 rs10464903 PA432 GGH NC_000008.11:63040622 1 0 0 0 0 NC_000008.10:g.63953181=, NC_000008.11:g.63040622C>T, NC_000008.11:g.63040622=, NC_000008.10:g.63953181C>T, 10464903, NG_028126.1:g.3430=, NG_028126.1:g.3430G>A, rs10464903 +PA166157805 rs10465180 PA31818 NTRK2 NC_000009.12:84777667 1 1 0 0 0 NC_000009.11:g.87392582C>A, NC_000009.12:g.84777667C>G, NG_012201.2:g.114117C>G, XM_005252002.1:c.1396+25582C>T, XM_005252005.1:c.1396+25582C>T, XM_005252007.2:c.1396+25582C>T, NM_006180.4:c.1396+25582C>T, NC_000009.12:g.84777667=, NC_000009.12:g.84777667C>A, NC_000009.11:g.87392582=, NC_000009.12:g.84777667C>T, NM_001018065.2:c.1396+25582C>T, NM_001007097.2:c.1396+25582C>T, XM_011518718.1:c.1396+25582C>T, XM_011518719.1:c.1396+25582C>T, NG_012201.2:g.114117=, rs58399202, NG_012201.2:g.114117C>A, XM_005252006.2:c.1396+25582C>T, XM_005252001.1:c.1396+25582C>T, XM_005252007.1:c.1396+25582C>T, XM_005252004.1:c.1396+25582C>T, NM_001291937.1:c.1357+25582C>T, XM_005252006.1:c.1396+25582C>T, 58399202, NM_001018064.2:c.1396+25582C>T, 10465180, XM_005252003.1:c.1396+25582C>T, NC_000009.11:g.87392582C>T, XM_011518720.1:c.1396+25582C>T, rs10465180, NG_012201.2:g.114117C>T, NM_001018066.2:c.1396+25582C>T, NC_000009.11:g.87392582C>G +PA166186981 rs1047303 PA29486 HSD3B1 NC_000001.11:119514623 4 1 0 0 0 NC_000001.11:g.119514623=, rs1047303, 3175786, NG_050909.1:g.12512C>G, 1047303, NP_000853.1:p.Thr367Ile, NC_000001.10:g.120057246C>T, NP_000853.1:p.Thr367Ser, NC_000001.11:g.119514623C>T, NG_050909.1:g.12512C>A, NC_000001.11:g.119514623C>G, NP_000853.1:p.Thr367Asn, NP_000853.1:p.Thr367=, NG_050909.1:g.12512=, 57103073, NC_000001.11:g.119514623C>A, NC_000001.10:g.120057246C>A, NC_000001.10:g.120057246=, NC_000001.10:g.120057246C>G, 17858961, 17845979, 72631744, NG_050909.1:g.12512C>T +PA166156862 rs10474433 PA189 HMGCR NC_000005.10:75321018 1 0 0 0 0 rs52795663, 17739061, rs59014840, 10474433, NC_000005.9:g.74616843T>G, NC_000005.9:g.74616843T>C, NC_000005.9:g.74616843=, 59014840, NC_000005.10:g.75321018=, rs10474433, 52795663, rs17739061, NC_000005.10:g.75321018T>G, NC_000005.10:g.75321018T>C +PA166156500 rs1047626 PA25909 SLC30A9 NC_000004.12:42001654 1 1 0 0 0 XM_011513620.1:c.148A>G, 17856522, NP_006336.3:p.Met50Leu, rs17845128, 61370393, NP_006336.3:p.Met50=, NC_000004.11:g.42003671=, XP_011511922.1:p.Met50Val, 1801961, 17845128, NC_000004.11:g.42003671A>C, NC_000004.11:g.42003671A>G, XP_005248101.1:p.Met50Val, rs1801961, XM_005248045.1:c.-690A>G, rs61370393, rs17530086, rs17857929, NC_000004.12:g.42001654A>G, 17530086, rs1047626, 1047626, 17857929, NC_000004.12:g.42001654A>C, rs17412165, NC_000004.12:g.42001654=, 3187632, NM_006345.3:c.148A>G, rs17856522, 17412165, NP_006336.3:p.Met50Val, rs3187632, XM_005248044.1:c.148A>G +PA166154693 rs1047768 PA27851 ERCC5 NC_000013.11:102852167 3 0 0 0 0 17260800, NM_001204425.1:c.1500T>C, 17858940, NC_000013.11:g.102852167T>C, NC_000013.11:g.102852167=, NC_000013.10:g.103504517=, NP_000114.2:p.His46=, XR_243039.1:n.564T>C, rs17260800, rs3187785, 3187785, 2266745, NG_007146.1:g.11344T>C, rs1047768, 1047768, NP_000114.3:p.His46=, rs2266745, NM_000123.3:c.138T>C, rs17845958, rs2227868, 2227868, rs17858940, rs4150265, 4150265, 17845958, NC_000013.10:g.103504517T>C, NG_007146.1:g.11344=, NP_001191354.1:p.His500= +PA166153609 rs1047840 PA27923 EXO1 NC_000001.11:241878999 3 1 0 0 0 NM_006027.4:c.1765G>A, NG_029100.1:g.35809G>C, NG_029100.1:g.35809G>A, NM_003686.4:c.1765G>A, rs12734501, NP_569082.2:p.Glu589Gln, NP_569082.2:p.Glu589=, rs56561721, XM_011544324.1:c.1645G>A, 52829990, XM_005273350.2:c.1762G>A, rs3187846, 3187846, rs16842258, rs1047840, NM_130398.3:c.1765G>A, NP_569082.2:p.Glu589Lys, XR_949162.1:n.2350G>A, NC_000001.11:g.241878999G>C, NC_000001.11:g.241878999G>A, XM_011544326.1:c.*224G>A, 12734501, NM_001319224.1:c.1762G>A, XM_011544325.1:c.802G>A, NP_003677.4:p.Glu589Lys, XP_005273407.1:p.Glu588Lys, NC_000001.11:g.241878999=, XP_011542624.1:p.Glu589Lys, NG_029100.1:g.35809=, XP_011542626.1:p.Glu549Lys, 59734256, rs52829990, XM_006711840.1:c.1765G>A, NP_006018.4:p.Glu589Lys, 56561721, XP_006711903.1:p.Glu589Lys, XP_011542623.1:p.Glu589Lys, XM_005273350.1:c.1762G>A, NG_029100.2:g.35809=, NG_029100.2:g.35809G>A, NG_029100.2:g.35809G>C, XM_011544323.1:c.1762G>A, XP_011542627.1:p.Glu268Lys, 1047840, XM_011544322.1:c.1765G>A, 16842258, XM_011544321.1:c.1765G>A, NC_000001.10:g.242042301=, XP_011542625.1:p.Glu588Lys, rs59734256, NP_001306153.1:p.Glu588Lys, NC_000001.10:g.242042301G>A, NC_000001.10:g.242042301G>C +PA166155617 rs1047891 PA26840 CPS1 NC_000002.12:210675783 1 0 0 0 0 NM_001122634.3:c.2864C>A, XP_011508945.1:p.Thr1406Asn, XM_011510640.1:c.4250C>A, NG_008285.1:g.203099C>A, XM_011510644.1:c.4217C>A, NC_000002.11:g.211540507=, NG_008285.1:g.203099=, NP_001866.2:p.Thr1406Asn, rs7422339, NC_000002.12:g.210675783=, XP_011508944.1:p.Thr1406Asn, NM_001875.4:c.4217C>A, 52831019, NP_001116106.1:p.Thr955Asn, 7422339, NC_000002.12:g.210675783C>A, XP_011508942.1:p.Thr1417Asn, NP_001866.2:p.Thr1406=, rs1047891, rs52831019, 1047891, XP_005246379.1:p.Thr1417Asn, XP_011508943.1:p.Thr1406Asn, 2229587, rs2229587, XM_005246322.1:c.4250C>A, NC_000002.11:g.211540507C>A, NM_001122633.2:c.4235C>A, NP_001116105.1:p.Thr1412Asn, XP_011508946.1:p.Thr1406Asn, XM_011510643.1:c.4217C>A, 3187890, XM_011510642.1:c.4217C>A, rs3187890, XM_011510641.1:c.4217C>A +PA166157550 rs1048101 PA34 ADRA1A NC_000008.11:26770511 3 1 0 0 0 XM_006716293.2:c.1039T>C, NM_033303.3:c.1039T>C, XM_006716292.2:c.1039T>C, NC_000008.10:g.26628028=, NM_000680.2:c.1039T>C, NP_150646.3:p.Cys347Arg, 52806290, NP_000671.2:p.Cys347Arg, rs17425094, NC_000008.11:g.26770511A>T, NC_000008.10:g.26628028A>T, NC_000008.11:g.26770511=, NG_029395.1:g.99895T>C, XM_005273414.1:c.1039T>C, rs57898697, NG_029395.1:g.99895T>A, XM_005273414.3:c.1039T>C, rs386513207, 3729633, NC_000008.10:g.26628028A>G, 386513207, XP_006716355.1:p.Cys347Arg, NP_000671.2:p.Cys347Ser, rs3729633, 57898697, NG_029395.1:g.99895T>G, rs1048101, 1048101, NC_000008.10:g.26628028A>C, NG_029395.1:g.99895=, XP_006716356.1:p.Cys347Arg, rs3188081, 3188081, NP_150647.2:p.Cys347Arg, NM_033302.2:c.1039T>C, NP_000671.2:p.Cys347Gly, NP_150645.2:p.Cys347Arg, NP_000671.2:p.Cys347=, NM_033304.2:c.1039T>C, XP_005273471.1:p.Cys347Arg, NC_000008.11:g.26770511A>G, rs52806290, 17425094, NC_000008.11:g.26770511A>C +PA166156863 rs10482633 PA181 NR3C1 NC_000005.10:143370968 1 0 0 0 0 XM_005268422.1:c.1184+28688A>C, NM_001018077.1:c.1184+28688A>C, rs17399331, XM_005268420.3:c.1184+28688A>C, NM_001204258.1:c.1106+28688A>C, NC_000005.10:g.143370968T>G, NM_001018074.1:c.1184+28688A>C, XM_005268419.2:c.1184+28688A>C, NM_001204261.1:c.893+28688A>C, NC_000005.9:g.142750533=, NM_001204264.1:c.179+28688A>C, 17399331, XM_005268427.1:c.-8+18910A>C, rs10482633, rs386513229, NM_001020825.1:c.1184+28688A>C, NM_001204259.1:c.929+28688A>C, 386513229, NM_001204260.1:c.917+28688A>C, NM_001204263.1:c.194+28688A>C, XM_011537637.1:c.-8+18910A>C, NG_009062.1:g.69545=, XM_005268419.1:c.1184+28688A>C, XM_005268426.1:c.1184+28688A>C, NM_001024094.1:c.1184+28688A>C, NM_001204262.1:c.239+28688A>C, NC_000005.9:g.142750533T>G, 10482633, NC_000005.10:g.143370968=, NM_001204265.1:c.1184+28688A>C, NM_001018076.1:c.1184+28688A>C, XM_005268421.1:c.1184+28688A>C, NG_009062.1:g.69545A>C, XM_005268423.2:c.1184+28688A>C, XM_005268424.1:c.1184+28688A>C, XM_005268420.1:c.1184+28688A>C, XM_005268422.2:c.1184+28688A>C, XM_005268423.1:c.1184+28688A>C, NM_000176.2:c.1184+28688A>C, NM_001018075.1:c.1184+28688A>C, XM_005268425.1:c.1106+28688A>C +PA166177710 rs10482672 PA181 NR3C1 NC_000005.10:143312968 1 0 0 0 0 386513246, NC_000005.9:g.142692533G>A, 60901087, NC_000005.10:g.143312968=, NG_009062.1:g.127545=, rs10482672, NC_000005.9:g.142692533=, 10482672, NC_000005.10:g.143312968G>A, NG_009062.1:g.127545C>T +PA166184699 rs10485057 PA31945 OPRM1 NC_000006.12:154092120 5 4 0 0 0 NG_021208.2:g.86620=, rs10485057, 17174843, NG_021208.2:g.86620A>G, NC_000006.12:g.154092120A>G, NC_000006.11:g.154413255A>G, 10485057, NC_000006.12:g.154092120=, NC_000006.11:g.154413255= +PA166161944 rs10485058 PA31945 OPRM1 NC_000006.12:154124080 4 1 0 0 0 17210996, NC_000006.12:g.154124080A>G, rs10485058, NC_000006.12:g.154124080=, NG_021208.2:g.118580A>G, NG_021208.2:g.118580=, NC_000006.11:g.154445215A>G, 58180972, NC_000006.11:g.154445215=, 10485058 +PA166184672 rs10485060 PA164721033,PA31945 IPCEF1,OPRM1 NC_000006.12:154194967 1 0 0 0 0 NC_000006.11:g.154516101=, NG_021208.2:g.189467=, 10485060, NC_000006.11:g.154516101C>A, NC_000006.12:g.154194967C>A, rs10485060, NG_021208.2:g.189467C>A, 58980079, NC_000006.12:g.154194967= +PA166155965 rs10485828 PA25128,PA38100 ATP5F1E,TUBB1 NC_000020.11:59025600 1 1 0 0 0 NG_023424.2:g.11347G>C, NM_030773.3:c.*817G>C, NC_000020.10:g.57600655G>C, NC_000020.11:g.59025600G>C, 10485828, NG_023424.2:g.11347=, NC_000020.11:g.59025600=, NC_000020.10:g.57600655=, rs10485828 +PA166157447 rs10486003 PA36297 TAC1 NC_000007.14:97600466 1 0 0 0 0 rs10486003, 11486963, rs11486963, NC_000007.13:g.97229778=, NC_000007.14:g.97600466C>T, NC_000007.14:g.97600466C>G, NC_000007.13:g.97229778C>G, 58060461, rs58060461, NC_000007.13:g.97229778C>T, 10486003, NC_000007.14:g.97600466= +PA166176949 rs1048786 PA33153 PDIA2 NC_000016.10:286916 1 1 0 0 0 rs1048786, 1048786, NC_000016.9:g.336916=, NG_012267.1:g.70549G>A, NC_000016.9:g.336916C>T, NG_012267.1:g.70549G>T, NC_000016.10:g.286916=, NC_000016.10:g.286916C>A, NC_000016.10:g.286916C>T, NP_006840.2:p.Pro502=, NP_006840.2:p.Pro502Thr, NC_000016.9:g.336916C>A, NG_012267.1:g.70549=, NP_006840.2:p.Pro502Ser +PA166156473 rs104893684 PA25294 BCHE NC_000003.12:165830030 2 0 0 0 0 NC_000003.11:g.165547818A>G, NG_009031.1:g.12436T>C, rs104893684, NG_009031.1:g.12436=, NM_000055.2:c.1004T>C, NP_000046.1:p.Leu335Pro, NP_000046.1:p.Leu335=, XM_005247685.1:c.1127T>C, NC_000003.11:g.165547818=, 104893684, NC_000003.12:g.165830030A>G, XP_005247742.1:p.Leu376Pro, NC_000003.12:g.165830030= +PA166183768 rs104894021 PA212 KCNH2 NC_000007.14:150951629 4 2 0 0 0 rs104894021, NG_008916.1:g.31298C>A, NP_000229.1:p.Asn588Lys, NC_000007.14:g.150951629G>C, NG_008916.1:g.31298C>G, NC_000007.14:g.150951629=, NC_000007.13:g.150648717=, 104894021, 104894022, NC_000007.13:g.150648717G>T, NP_000229.1:p.Asn588=, NG_008916.1:g.31298=, NC_000007.14:g.150951629G>T, NC_000007.13:g.150648717G>C +PA166154855 rs1048943 PA27092 CYP1A1 NC_000015.10:74720644 11 1 0 0 0 NC_000015.9:g.75012985T>A, NP_000490.1:p.Ile462=, NC_000015.9:g.75012985T>C, 1048943, rs1048943, XM_005254185.1:c.1384A>G, XM_005254186.1:c.1384A>G, NM_001319217.1:c.1384A>G, XP_005254243.1:p.Ile462Val, NG_061374.1:g.9885=, NG_008431.1:g.3103T>C, 3188998, NP_000490.1:p.Ile462Leu, NM_000499.3:c.1384A>G, rs3188998, NG_008431.2:g.3103=, NG_061374.1:g.9885A>C, NP_000490.1:p.Ile462Val, NC_000015.10:g.74720644T>A, NC_000015.10:g.74720644T>C, NG_061374.1:g.9885A>G, NC_000015.9:g.75012985=, NC_000015.10:g.74720644T>G, NC_000015.9:g.75012985T>G, XP_005254242.1:p.Ile462Val, NC_000015.10:g.74720644=, NG_008431.2:g.3103T>C, NG_008431.2:g.3103T>A, NP_000490.1:p.Ile462Phe, NG_008431.2:g.3103T>G, XM_005254189.1:c.601A>G, NG_061374.1:g.9885A>T, NP_001306146.1:p.Ile462Val, XM_005254188.1:c.1297A>G, XP_005254244.1:p.Ile434Val, 17861092, rs386513458, NM_000499.4:c.1384A>G, XP_005254246.1:p.Ile201Val, 52810784, rs52810784, XM_005254187.1:c.1300A>G, NM_001319216.1:c.1297A>G, NP_001306145.1:p.Ile433Val, rs17861092, XP_005254245.1:p.Ile433Val, 386513458 +PA166155137 rs104894539 PA133787052 VKORC1 NC_000016.10:31094645 2 1 0 0 0 NP_001298240.1:p.Val29Leu, NM_024006.4:c.85G>T, XP_011544247.1:p.Val29Leu, NC_000016.9:g.31105966C>A, XR_950848.1:n.873G>T, NM_001311311.1:c.85G>T, XP_011544246.1:p.Val29Leu, rs104894539, XP_011544245.1:p.Val29Leu, NM_024006.5:c.85G>T, XM_011545944.1:c.85G>T, XP_005255625.1:p.Val29Leu, XR_243303.1:n.734G>T, NM_206824.2:c.85G>T, NG_011564.1:g.5311=, NP_076869.1:p.Val29Leu, NC_000016.10:g.31094645=, NG_011564.1:g.5311G>T, NP_996560.1:p.Val29Leu, XM_011545945.1:c.85G>T, NP_076869.1:p.Val29=, XM_005255568.1:c.85G>T, XM_011545943.1:c.85G>T, NC_000016.10:g.31094645C>A, NC_000016.9:g.31105966=, 104894539 +PA166155138 rs104894540 PA133787052 VKORC1 NC_000016.10:31094596 3 1 0 0 0 NP_996560.1:p.Val45Ala, NG_011564.1:g.5360T>C, NC_000016.9:g.31105917=, XR_950848.1:n.922T>C, XP_005255625.1:p.Val45Ala, 104894540, NM_024006.4:c.134T>C, NC_000016.10:g.31094596A>G, XP_011544247.1:p.Val45Ala, XP_011544245.1:p.Val45Ala, XP_011544246.1:p.Val45Ala, rs104894540, XR_243303.1:n.783T>C, NG_011564.1:g.5360=, XM_005255568.1:c.134T>C, XM_011545943.1:c.134T>C, 28940303, rs28940303, NP_001298240.1:p.Val45Ala, NM_001311311.1:c.134T>C, NC_000016.10:g.31094596=, NC_000016.9:g.31105917A>G, NP_076869.1:p.Val45=, XM_011545945.1:c.134T>C, XM_011545944.1:c.134T>C, NP_076869.1:p.Val45Ala, NM_206824.2:c.134T>C, NM_024006.5:c.134T>C +PA166155139 rs104894541 PA133787052 VKORC1 NC_000016.10:31094558 2 1 0 0 0 NC_000016.9:g.31105879T>C, NP_996560.1:p.Arg58Gly, XP_005255625.1:p.Arg58Gly, NM_024006.5:c.172A>G, NG_011564.1:g.5398A>G, NM_206824.2:c.172A>G, XP_011544246.1:p.Arg58Gly, XP_011544247.1:p.Arg58Gly, XP_011544245.1:p.Arg58Gly, 104894541, XM_011545944.1:c.172A>G, NP_076869.1:p.Arg58=, NM_001311311.1:c.172A>G, rs104894541, XM_005255568.1:c.172A>G, XM_011545943.1:c.172A>G, 28940304, rs28940304, NC_000016.10:g.31094558T>C, XR_243303.1:n.821A>G, NM_024006.4:c.172A>G, NP_001298240.1:p.Arg58Gly, XM_011545945.1:c.172A>G, NP_076869.1:p.Arg58Gly, NC_000016.10:g.31094558=, XR_950848.1:n.960A>G, NC_000016.9:g.31105879=, NG_011564.1:g.5398= +PA166155140 rs104894542 PA165450635,PA133787052 PRSS53,VKORC1 NC_000016.10:31091243 3 1 0 0 0 NC_000016.10:g.31091243A>C, NG_011564.1:g.8713=, NM_024006.5:c.383T>G, XM_011545818.1:c.-2434T>G, XM_011545817.1:c.-2434T>G, XM_011545944.1:c.383T>G, XM_005255568.1:c.467T>G, XM_011545816.1:c.-2434T>G, 104894542, NC_000016.10:g.31091243=, XR_243303.1:n.932T>G, rs104894542, XR_950848.1:n.1171T>G, XP_011544246.1:p.Leu128Arg, NC_000016.9:g.31102564=, NM_001311311.1:c.467T>G, NM_206824.2:c.273T>G, 28940305, NP_076869.1:p.Leu128=, XP_011544245.1:p.Leu156Arg, rs28940305, NM_024006.4:c.383T>G, NG_011564.1:g.8713T>G, NC_000016.9:g.31102564A>C, XM_011545820.1:c.-2434T>G, XM_011545945.1:c.273T>G, XP_005255625.1:p.Leu156Arg, XM_011545943.1:c.467T>G, XM_011545819.1:c.-2434T>G, NP_996560.1:p.Ala91=, NP_076869.1:p.Leu128Arg, XP_011544247.1:p.Ala91=, NP_001298240.1:p.Leu156Arg +PA166185913 rs104894827 PA28707 GLA NC_000023.11:101398033 1 1 0 0 0 NC_000023.11:g.101398033G>A, NG_007119.1:g.14931C>T, NC_000023.11:g.101398033=, NC_000023.10:g.100653021=, NC_000023.10:g.100653021G>A, rs104894827, NP_000160.1:p.Arg356=, NP_000160.1:p.Arg356Trp, NG_007119.1:g.14931=, 104894827 +PA166185908 rs104894828 PA28707 GLA NC_000023.11:101398467 1 1 0 0 0 104894828, NC_000023.11:g.101398467C>A, rs104894828, NC_000023.11:g.101398467C>T, NP_000160.1:p.Arg301=, NG_007119.1:g.14497G>A, NC_000023.10:g.100653455C>T, NC_000023.10:g.100653455=, NP_000160.1:p.Arg301Leu, NG_007119.1:g.14497=, NC_000023.11:g.101398467=, NG_007119.1:g.14497G>T, NP_000160.1:p.Arg301Gln, NC_000023.10:g.100653455C>A +PA166288502 rs10489629 PA134935109 IL23R NC_000001.11:67222666 1 0 0 0 0 60139592, NC_000001.11:g.67222666=, NC_000001.11:g.67222666T>C, NG_011498.1:g.61181T>C, 10489629, NC_000001.10:g.67688349T>C, rs10489629, NC_000001.10:g.67688349=, NG_011498.1:g.61181= +PA166153610 rs1048977 PA98 CDA NC_000001.11:20618562 12 2 0 0 0 NC_000001.10:g.20945055=, NM_001785.2:c.435C>T, rs1048977, NP_001776.1:p.Thr145=, NC_000001.11:g.20618562=, rs57498302, 17859600, 1048977, 57498302, NC_000001.10:g.20945055C>T, rs17846527, 17846527, NC_000001.11:g.20618562C>T, rs17859600, 3189038, rs3189038 +PA166155788 rs10489997 PA25273 BAZ2B NC_000002.12:159548987 1 0 0 0 0 rs10489997, NM_013450.3:c.-3+6836G>A, XM_011511036.1:c.-50+6836G>A, XM_005246496.1:c.-3+6836G>A, XM_005246488.1:c.-3+6836G>A, XM_011511040.1:c.-3+6836G>A, XM_005246488.2:c.-3+6836G>A, 17423858, XM_006712461.2:c.-3+6836G>A, XM_005246501.1:c.-3+6836G>A, XM_005246490.1:c.-3+6836G>A, 10489997, NC_000002.11:g.160405498C>T, XM_005246497.1:c.-3+6836G>A, NC_000002.12:g.159548987=, NG_051314.1:g.168453G>A, 74268443, NG_051314.1:g.168453=, XM_005246493.1:c.-3+6836G>A, NM_001289975.1:c.-3+6836G>A, XM_005246502.1:c.-3+6836G>A, XM_011511047.1:c.-3+6836G>A, rs74268443, XM_005246498.1:c.-3+6836G>A, XM_005246494.1:c.-3+6836G>A, 60485016, XM_011511048.1:c.-3+6836G>A, XM_005246500.1:c.-3+6836G>A, XM_011511037.1:c.-50+6836G>A, XM_005246499.1:c.-3+6836G>A, rs60485016, NC_000002.12:g.159548987C>T, rs17423858, XM_005246495.1:c.-3+6836G>A, NC_000002.11:g.160405498=, XM_005246491.1:c.-3+6836G>A +PA166155789 rs10490162 PA31786 NRXN1 NC_000002.12:51020519 1 1 0 0 0 XM_006712141.2:c.772+6983A>G, XM_011533168.1:c.772+6983A>G, 386513486, XM_005264642.2:c.772+6983A>G, XM_006712137.2:c.772+6983A>G, XM_011533172.1:c.772+6983A>G, NM_004801.4:c.772+6983A>G, rs10490162, rs386513486, XM_011533174.1:c.772+6983A>G, XM_011533177.1:c.772+6983A>G, 60675339, XM_011533178.1:c.772+6983A>G, XM_005264643.1:c.772+6983A>G, XM_011533175.1:c.772+6983A>G, 10490162, XM_011533176.1:c.772+6983A>G, XM_011533180.1:c.772+6983A>G, rs60675339, NG_011878.1:g.17018=, NC_000002.12:g.51020519T>C, XM_011533179.1:c.772+6983A>G, NC_000002.11:g.51247657T>C, XM_011533169.1:c.772+6983A>G, XM_005264642.1:c.772+6983A>G, XM_011533171.1:c.772+6983A>G, XM_005264643.2:c.772+6983A>G, NG_011878.1:g.17018A>G, XM_006712140.2:c.772+6983A>G, XM_011533173.1:c.772+6983A>G, NM_001135659.1:c.871+5852A>G, XM_011533170.1:c.772+6983A>G, XM_011533167.1:c.772+6983A>G, NC_000002.11:g.51247657=, NC_000002.12:g.51020519= +PA166155790 rs10490624 PA134890284 INSIG2 NC_000002.12:118104916 2 0 0 0 0 rs10490624, NC_000002.11:g.118862492=, 386513497, NM_016133.2:c.369+1595T>C, NC_000002.12:g.118104916=, rs17587942, XM_005263691.1:c.45+1595T>C, rs386513497, XM_005263690.1:c.45+1595T>C, XM_005263690.2:c.45+1595T>C, 10490624, 17587942, NC_000002.12:g.118104916T>C, XM_011511292.1:c.369+1595T>C, NC_000002.11:g.118862492T>C +PA166154107 rs10490924 PA162376896 ARMS2 NC_000010.11:122454932 13 1 0 0 0 NG_011725.1:g.5270=, NP_001093137.1:p.Ala69Ser, XR_946382.1:n.1827+3563C>A, NC_000010.10:g.124214448G>C, XR_946385.1:n.1917C>A, rs61632617, NC_000010.11:g.122454932G>C, NG_011725.1:g.5270G>C, NP_001093137.1:p.Ala69=, NM_001099667.1:c.205G>T, XR_946383.1:n.1827+3563C>A, 10490924, NC_000010.11:g.122454932=, rs10490924, NC_000010.11:g.122454932G>T, NG_011725.1:g.5270G>T, XR_946384.1:n.1576+3563C>A, NC_000010.10:g.124214448=, 61632617, NC_000010.10:g.124214448G>T, NP_001093137.1:p.Ala69Pro +PA166201541 rs10491684 PA134918866 DOCK8 NC_000009.12:449798 1 1 0 0 0 NC_000009.12:g.449798G>A, NC_000009.11:g.449798G>A, NC_000009.11:g.449798=, NG_017007.1:g.239934G>A, NG_017007.1:g.239934=, NC_000009.12:g.449798=, rs10491684, 10491684, 56512381, 58901491, NP_982272.2:p.Pro1944= +PA166162418 rs1049174 PA128394594 KLRK1 NC_000012.12:10372766 1 0 0 0 0 NC_000012.12:g.10372766=, NC_000012.11:g.10525365=, NG_027762.1:g.22276C>G, NC_000012.12:g.10372766G>T, NC_000012.11:g.10525365G>C, NG_027762.1:g.22276=, 57946698, NC_000012.12:g.10372766G>C, rs1049174, 3189266, 1049174, NG_027762.1:g.22276C>A, NC_000012.11:g.10525365G>T +PA166186213 rs1049305 PA24918 AQP1 NC_000007.14:30924207 7 4 0 0 0 rs1049305, 56688788, 3173740, 1049305, 56417170, NC_000007.14:g.30924207G>A, NC_000007.13:g.30963822=, NC_000007.13:g.30963822G>A, NG_007475.2:g.75814G>A, NC_000007.13:g.30963822G>C, NG_007475.2:g.75814G>C, NC_000007.14:g.30924207=, NG_007475.2:g.75814=, NC_000007.14:g.30924207G>C, 11537657 +PA166223581 rs10493112 PA31791 YBX1 NC_000001.11:42692759 1 0 0 0 0 60211493, NC_000001.11:g.42692759C>A, NC_000001.10:g.43158430C>A, NC_000001.10:g.43158430=, NC_000001.10:g.43158430C>T, 10493112, NC_000001.10:g.43158430C>G, rs10493112, NC_000001.11:g.42692759C>G, NC_000001.11:g.42692759=, NC_000001.11:g.42692759C>T +PA166156973 rs1049353 PA26681 CNR1 NC_000006.12:88143916 5 1 0 0 0 NP_149421.2:p.Thr420=, NP_001153731.1:p.Thr453=, NP_001153730.1:p.Thr453=, rs386513644, XM_011535427.1:c.1359G>A, NM_016083.4:c.1359G>A, 56973242, XM_011535428.1:c.1359G>A, XP_005248706.1:p.Thr453=, XM_006715330.2:c.1359G>A, XM_005248651.1:c.1260G>A, XM_005248652.1:c.1176G>A, XP_005248707.1:p.Thr453=, NC_000006.11:g.88853635=, XM_005248649.1:c.1359G>A, rs56973242, XP_011533726.1:p.Thr453=, 1049353, rs1049353, 386513644, XP_011533728.1:p.Thr453=, rs3173203, 3173203, XM_005248650.1:c.1359G>A, XP_011533727.1:p.Thr453=, NP_057167.2:p.Thr453=, NC_000006.12:g.88143916=, XP_006715393.1:p.Thr453=, NM_001160259.1:c.1359G>A, NM_001160226.1:c.1359G>A, NC_000006.11:g.88853635C>T, XP_011533729.1:p.Thr453=, NM_001160258.1:c.1359G>A, NC_000006.12:g.88143916C>T, NM_033181.3:c.1260G>A, XM_011535425.1:c.1359G>A, XP_005248709.1:p.Thr392=, XP_005248708.1:p.Thr420=, rs17264339, XM_011535426.1:c.1359G>A, XP_011533730.1:p.Thr453=, NP_001153698.1:p.Thr453=, 17264339, XM_005248650.3:c.1359G>A, XM_011535424.1:c.1359G>A +PA166303481 rs1049402 NC_000007.14:30595045 1 0 0 0 0 NG_007942.1:g.5481=, NG_007942.1:g.5481C>T, NP_002038.2:p.Pro42Thr, rs1049402, 1049402, 17856223, NC_000007.13:g.30634661C>T, 17856227, NC_000007.14:g.30595045=, NC_000007.13:g.30634661C>A, NC_000007.14:g.30595045C>T, NP_002038.2:p.Pro42Ser, NG_007942.1:g.5481C>G, NC_000007.13:g.30634661=, NC_000007.13:g.30634661C>G, NC_000007.14:g.30595045C>A, NP_002038.2:p.Pro42Ala, NP_002038.2:p.Pro42=, 11553500, NC_000007.14:g.30595045C>G, NG_007942.1:g.5481C>A, 3189564 +PA166153801 rs10494227 PA142670495 ZNF697 NC_000001.11:119594822 1 1 0 0 0 NC_000001.11:g.119594822=, rs10494227, NC_000001.10:g.120137445A>G, NC_000001.10:g.120137445=, rs60091301, rs17186150, 10494227, 60091301, NC_000001.11:g.119594822A>G, 17186150 +PA166153802 rs10494366 PA142671259 NOS1AP NC_000001.11:162115895 7 8 0 0 0 NG_015979.1:g.51105=, NG_015979.1:g.51105G>C, NC_000001.10:g.162085685G>T, 59845656, XR_922221.1:n.713-9147C>A, NG_015979.2:g.51105G>T, NC_000001.11:g.162115895=, rs10494366, NM_001164757.1:c.106-38510G>T, NG_015979.2:g.51105=, NC_000001.11:g.162115895G>C, XR_922219.1:n.713-1993C>A, XR_922217.1:n.884-1993C>A, NC_000001.10:g.162085685G>C, NG_015979.1:g.51105G>T, NG_015979.2:g.51105G>C, rs59845656, NM_014697.2:c.106-38510G>T, NC_000001.10:g.162085685=, NC_000001.11:g.162115895G>T, 10494366 +PA166153803 rs10495197 PA143485536 MIA3 NC_000001.11:222620358 1 0 0 0 0 rs10495197, 10495197, NC_000001.11:g.222620358C>T, NC_000001.10:g.222793700=, NM_198551.3:c.134-801C>T, XM_005273121.1:c.134-801C>T, XM_005273121.3:c.134-801C>T, XM_006711304.2:c.134-801C>T, NC_000001.11:g.222620358=, NC_000001.10:g.222793700C>T, XM_011509513.1:c.134-801C>T +PA166153958 rs1049550 PA24825 ANXA11 NC_000010.11:80166946 1 0 0 0 0 XM_005269742.1:c.688C>T, NP_665875.1:p.Arg230Cys, rs17676239, NP_001148.1:p.Arg230Cys, NM_001278407.1:c.688C>T, XM_011539736.1:c.688C>T, NP_665875.1:p.Arg230Gly, XP_006717876.1:p.Arg230Cys, rs52830790, XM_005269741.3:c.988C>T, XP_011538038.1:p.Arg230Cys, 1802933, NP_001265336.1:p.Arg230Cys, 3189725, rs3189725, rs1802933, NM_145869.1:c.688C>T, rs2228426, NP_665875.1:p.Arg230=, NM_001278408.1:c.688C>T, XP_011538037.1:p.Arg230Cys, 2228426, rs1049550, 1049550, NM_001157.2:c.688C>T, XM_005269741.1:c.988C>T, 17676239, NC_000010.10:g.81926702G>A, NC_000010.10:g.81926702G>C, NP_665876.1:p.Arg230Cys, NM_145868.1:c.688C>T, NP_001265337.1:p.Arg230Cys, XP_005269799.1:p.Arg230Cys, NP_001265338.1:p.Arg197Cys, NC_000010.10:g.81926702=, XM_006717813.1:c.688C>T, rs2070070, 2070070, NM_001278409.1:c.589C>T, XP_005269798.1:p.Arg330Cys, XM_006717814.2:c.688C>T, NC_000010.11:g.80166946=, XM_011539735.1:c.688C>T, XP_006717877.1:p.Arg230Cys, NC_000010.11:g.80166946G>A, 52830790, NC_000010.11:g.80166946G>C +PA166322941 rs1049674 PA25052 ASNS NC_000007.14:97859257 1 0 0 0 0 11554432, 3173574, NC_000007.14:g.97859257A>T, 58631309, 17845428, NG_033870.2:g.74306T>G, NG_033870.2:g.74306T>A, NG_033870.2:g.74306T>C, 17858299, rs1049674, 57895340, 1049674, NC_000007.13:g.97488569=, NP_001664.3:p.Val210Ala, 2070158, NC_000007.13:g.97488569A>G, NP_001664.3:p.Val210Glu, NC_000007.13:g.97488569A>C, NC_000007.14:g.97859257A>C, 17345000, NG_033870.2:g.74306=, NC_000007.13:g.97488569A>T, NC_000007.14:g.97859257=, NP_001664.3:p.Val210=, NC_000007.14:g.97859257A>G, NP_001664.3:p.Val210Gly +PA166201503 rs1049709 PA35057 HLA-C NC_000006.12:31269077 1 1 0 0 0 NC_000006.12:g.31269077=, NC_000006.11:g.31236854=, 77326983, 112902401, 9366774, 3177794, rs1049709, NC_000006.11:g.31236854T>C, 17840041, 1049709, NG_029422.2:g.8055G>A, 3189911, NC_000006.12:g.31269077T>C +PA166155791 rs10497203 PA142670838 TANC1 NC_000002.12:158994911 1 1 0 0 0 NC_000002.12:g.158994911A>C, NM_001145909.1:c.-125-6169A>C, NC_000002.11:g.159851423A>C, XM_006712812.2:c.-125-6169A>C, XM_011512051.1:c.-125-6169A>C, rs60537197, NM_033394.2:c.-125-6169A>C, rs10497203, XM_011512058.1:c.-125-6169A>C, XM_011512048.1:c.-242-6169A>C, XM_011512055.1:c.-125-6169A>C, 60537197, XM_011512053.1:c.-16+26129A>C, XM_006712810.2:c.-16+26129A>C, NC_000002.11:g.159851423=, 10497203, NC_000002.12:g.158994911= +PA166155792 rs10497338 PA38243 STK39 NC_000002.12:168227994 1 0 0 0 0 NM_013233.2:c.208+19234A>G, NG_052783.1:g.24602A>G, XM_011510967.1:c.208+19234A>G, NC_000002.12:g.168227994=, rs10497338, NC_000002.11:g.169084504T>C, 60653046, NC_000002.12:g.168227994T>C, NG_052783.1:g.24602=, rs17190786, NC_000002.11:g.169084504=, XM_011510968.1:c.208+19234A>G, 17190786, XM_005246465.1:c.208+19234A>G, XM_011510966.1:c.208+19234A>G, XM_005246465.2:c.208+19234A>G, 10497338, rs60653046 +PA166155793 rs10497346 PA374 ABCB11 NC_000002.12:168914686 1 0 0 0 0 NC_000002.11:g.169771196T>C, NC_000002.12:g.168914686T>C, NC_000002.12:g.168914686=, NC_000002.11:g.169771196=, rs10497346, NW_003315909.1:g.101313T>C, NG_007374.2:g.121711=, NG_007374.2:g.121711A>G, 10497346 +PA166157169 rs10499194 PA35733 SH3BP2 NC_000006.12:137681500 2 0 0 0 0 NC_000006.12:g.137681500=, NC_000006.11:g.138002637C>T, rs10499194, 10499194, NC_000006.12:g.137681500C>T, NC_000006.11:g.138002637= +PA166157448 rs10499563 PA198 IL6 NC_000007.14:22720869 4 1 0 0 0 111176551, NC_000007.13:g.22760488=, NC_000007.13:g.22760488T>C, 10499563, rs111176551, NC_000007.14:g.22720869T>C, NC_000007.14:g.22720869=, 58479127, rs10499563, rs58479127 +PA166247261 rs10500282 PA123 CYP2B6 NC_000019.10:41002537 1 0 0 0 0 59489165, NG_007929.1:g.16239T>C, NC_000019.10:g.41002537T>G, rs10500282, 10500282, NC_000019.9:g.41508442=, NG_007929.1:g.16239=, NC_000019.10:g.41002537T>C, NC_000019.10:g.41002537=, NC_000019.9:g.41508442T>C, NC_000019.9:g.41508442T>G, NG_007929.1:g.16239T>G +PA166154431 rs10501087 PA134953249 BDNF-AS NC_000011.10:27648561 2 1 0 0 0 NR_002832.2:n.374+8556T>C, rs59340138, NC_000011.9:g.27670108T>G, XR_242807.1:n.223+8556T>C, 10501087, NC_000011.9:g.27670108=, XR_242808.1:n.223+8556T>C, NR_033315.1:n.305+8556T>C, 59340138, NC_000011.10:g.27648561T>C, NC_000011.10:g.27648561=, NR_033312.1:n.305+8556T>C, NC_000011.10:g.27648561T>G, rs10501087, XR_242809.1:n.223+8556T>C, NR_033314.1:n.374+8556T>C, NC_000011.9:g.27670108T>C, NR_033313.1:n.305+8556T>C +PA166156750 rs1050152 PA332 SLC22A4 NC_000005.10:132340627 10 1 0 0 0 NP_003050.2:p.Leu503Phe, XM_011543589.1:c.1231C>T, NP_003050.2:p.Leu503=, XP_006714738.1:p.Leu327Phe, XM_006714675.2:c.979C>T, 52829495, NC_000005.9:g.131676320=, NG_012129.2:g.51176C>T, 17680807, NR_037898.1:n.560-5701G>A, NC_000005.10:g.132340627C>T, NG_012129.1:g.51176=, NC_000005.9:g.131676320C>T, NC_000005.10:g.132340627=, NG_012129.1:g.51176C>T, NM_003059.2:c.1507C>T, NR_110997.1:n.561-5701G>A, rs1050152, XP_011541891.1:p.Leu411Phe, rs17680807, rs57045625, 1050152, NG_012129.2:g.51176=, 57045625, rs52829495 +PA166196161 rs1050316 PA30735 MEF2D NC_000001.11:156464911 1 0 0 0 0 3171100, NC_000001.10:g.156434703G>C, rs1050316, NC_000001.11:g.156464911G>C, NC_000001.10:g.156434703G>T, 61666434, NC_000001.11:g.156464911G>T, 1050316, NC_000001.10:g.156434703G>A, NC_000001.11:g.156464911=, NC_000001.10:g.156434703=, NC_000001.11:g.156464911G>A +PA166183414 rs10504361 PA162397582 NKAIN3 NC_000008.11:62972541 1 0 0 0 0 rs10504361, 17193210, NC_000008.10:g.63885100=, 10504361, NC_000008.11:g.62972541=, 57943173, NC_000008.10:g.63885100G>A, NC_000008.11:g.62972541G>A +PA166156304 rs1050450 PA28949 GPX1 NC_000003.12:49357401 2 0 0 0 0 NG_051308.1:g.59697C>T, NC_000003.12:g.49357401G>A, NG_012264.1:g.5958C>T, NC_000003.11:g.49394834G>A, NP_000572.2:p.Pro200Leu, rs1050450, 61730124, NC_000003.12:g.49357401=, 1050450, 11549656, NP_000572.2:p.Pro200=, NC_000003.11:g.49394834=, NG_012264.1:g.5958=, NM_000581.2:c.599C>T, NM_201397.1:c.*581C>T, rs61730124, rs11549656, NG_051308.1:g.59697= +PA166153611 rs1050501 PA28064 FCGR2B NC_000001.11:161674008 1 0 0 0 0 NG_023318.1:g.15894T>C, rs3171037, NC_000001.10:g.161643798T>C, 3171037, rs1050501, 1050501, NC_000001.10:g.161643798T>A, 59522454, XM_011509292.1:c.*486T>C, NP_001177757.1:p.Ile225Thr, NG_023318.1:g.15894T>A, rs3818924, 3818924, NC_000001.11:g.161674008=, NC_000001.11:g.161674008T>A, NC_000001.11:g.161674008T>C, NG_023318.1:g.15894=, NM_001002273.2:c.692T>C, NP_001002273.1:p.Ile231Thr, rs17416926, NC_000001.10:g.161643798=, NP_003992.3:p.Ile232Asn, NM_001190828.1:c.674T>C, NP_003992.3:p.Ile232Thr, NP_003992.3:p.Ile232=, NM_001002274.2:c.695T>C, NP_001002274.1:p.Ile232Thr, NP_001002275.1:p.Ile231Thr, 17416926, NM_001002275.2:c.692T>C, NM_004001.4:c.695T>C, rs59522454 +PA166157630 rs10505168 PA134926063,PA164722583 CSMD3,MIR2053 NC_000008.11:112643523 2 0 0 0 0 NR_031745.1:n.31T>C, XM_011516810.1:c.2800+1586A>G, XM_011516812.1:c.3190+1586A>G, NC_000008.11:g.112643523T>C, XM_011516811.1:c.1414+1586A>G, rs60368931, 10505168, NC_000008.10:g.113655752T>C, NM_198123.1:c.3310+1586A>G, XM_011516813.1:c.586+1586A>G, NM_198124.1:c.3190+1586A>G, XM_011516809.1:c.2872+1586A>G, XM_011516816.1:c.2998+1586A>G, NM_052900.2:c.2998+1586A>G, XM_011516808.1:c.3112+1586A>G, 60368931, NC_000008.11:g.112643523=, rs10505168, XM_005250771.1:c.3190+1586A>G, XM_011516814.1:c.3190+1586A>G, NC_000008.10:g.113655752= +PA166155175 rs1050565 PA25370 BLMH NC_000017.11:30249058 3 1 0 0 0 1050565, NC_000017.11:g.30249058T>C, rs1050565, rs52825124, 52825124, rs17767244, 386513909, NC_000017.11:g.30249058=, XP_005258081.1:p.Ile356Val, 17767244, rs386513909, XR_934654.1:n.4087T>C, NG_011440.1:g.47999A>G, NP_000377.1:p.Ile443Val, XM_005258024.1:c.1066A>G, NC_000017.10:g.28576076=, NM_000386.3:c.1327A>G, rs3190883, XR_934652.1:n.4011T>C, XR_934655.1:n.701-3016T>C, rs59661471, 3190883, NG_011440.1:g.47999=, 59661471, NC_000017.10:g.28576076T>C, NP_000377.1:p.Ile443=, XR_934653.1:n.701-729T>C +PA166186069 rs1050567 PA37418 XPO1 NC_000002.12:61478528 1 0 0 0 0 rs1050567, 1050567, 3732172, 3190893, NC_000002.11:g.61705663=, 118103163, NC_000002.12:g.61478528C>T, NC_000002.11:g.61705663C>T, NC_000002.12:g.61478528=, 57936867 +PA166154612 rs10505806 NC_000012.12:17335830 1 0 0 0 0 NC_000012.11:g.17488764A>T, NC_000012.12:g.17335830=, rs10505806, 10505806, rs17382305, 17382305, NC_000012.11:g.17488764=, NC_000012.12:g.17335830A>T +PA166232241 rs10506645 PA128747823 TPH2 NC_000012.12:71991720 1 0 0 0 0 NC_000012.11:g.72385500C>T, NC_000012.12:g.71991720=, 10506645, NG_008279.1:g.57875=, rs10506645, 58187956, NG_008279.1:g.57875C>T, NC_000012.12:g.71991720C>T, NC_000012.11:g.72385500= +PA166157859 rs1050828 PA28469,PA29777 G6PD,IKBKG NC_000023.11:154536002 31 13 10 0 0 NG_009015.2:g.16571G>A, XP_005274714.1:p.Val98Met, NC_000023.11:g.154536002C>T, XM_005277833.1:c.292G>A, XP_005277890.1:p.Val98Met, rs3191188, NM_001042351.2:c.202G>A, XM_005274657.2:c.292G>A, XP_011529434.1:p.Val98Met, NC_000023.10:g.153764217C>T, 3191188, XM_011531132.1:c.292G>A, XM_005274657.1:c.292G>A, XM_005274658.2:c.202G>A, NP_001035810.1:p.Val68Met, XP_005277891.1:p.Val68Met, NP_000393.4:p.Val98=, NM_000402.4:c.292G>A, NG_009015.2:g.16571=, XM_005274658.1:c.202G>A, rs1894404, XM_005277834.1:c.202G>A, 1894404, NW_003871103.3:g.1969981C>T, NC_000023.10:g.153764217=, NP_000393.4:p.Val98Met, XP_005274715.1:p.Val68Met, 2230034, NC_000023.11:g.154536002=, rs2230034, rs1050828, 1050828 +PA166157860 rs1050829 PA28469 G6PD NC_000023.11:154535277 19 10 10 0 0 XM_005274657.2:c.466A>G, NM_001042351.2:c.376A>G, XP_005274714.1:p.Asn156Asp, 3191189, NC_000023.10:g.153763492T>C, XM_005274658.2:c.376A>G, rs3191189, NC_000023.10:g.153763492T>A, NP_000393.4:p.Asn156Asp, XM_011531132.1:c.466A>G, NC_000023.11:g.154535277T>A, NC_000023.10:g.153763492=, NP_000393.4:p.Asn156Tyr, XP_005277890.1:p.Asn156Asp, XM_005274657.1:c.466A>G, XM_005277833.1:c.466A>G, NC_000023.11:g.154535277T>C, NG_009015.2:g.17296A>G, XM_005274658.1:c.376A>G, XP_011529434.1:p.Asn156Asp, NP_000393.4:p.Asn156=, NG_009015.2:g.17296=, NG_009015.2:g.17296A>T, XP_005277891.1:p.Asn126Asp, NW_003871103.3:g.1969256T>C, XM_005277834.1:c.376A>G, NC_000023.11:g.154535277=, NM_000402.4:c.466A>G, NP_001035810.1:p.Asn126Asp, rs1050829, 2230035, rs2230035, XP_005274715.1:p.Asn126Asp, 1050829 +PA166155618 rs1050891 PA190 HNMT NC_000002.12:138014190 1 1 0 0 0 NC_000002.12:g.138014190=, NC_000002.12:g.138014190A>G, rs1050891, rs3191235, 3191235, NG_012966.1:g.54953=, NG_012966.1:g.54953A>G, NM_006895.2:c.*60A>G, XM_011511064.1:c.*60A>G, 1050891, NC_000002.11:g.138771760=, XM_011511063.1:c.*60A>G, XR_244863.1:n.579-6394T>C, NC_000002.11:g.138771760A>G +PA166154108 rs10509373 PA134899373 LRMDA NC_000010.11:76397814 1 1 0 0 0 NR_131178.1:n.955+73329T>C, NM_032024.4:c.517+73329T>C, 56489054, XM_005270212.1:c.601+73329T>C, NC_000010.11:g.76397814T>C, 10509373, NG_042180.1:g.971169T>C, NC_000010.10:g.78157572=, rs59928153, NC_000010.10:g.78157572T>C, 17380054, NG_054042.1:g.1156=, XM_011540257.1:c.517-159395T>C, XM_005270212.2:c.601+73329T>C, rs56489054, NG_054042.1:g.1156T>C, NM_001305581.1:c.601+73329T>C, 59928153, rs10509373, XR_945833.1:n.992+51261T>C, rs17380054, NC_000010.11:g.76397814=, NG_042180.1:g.971169= +PA166154109 rs10509680 PA126 CYP2C9 NC_000010.11:94974582 2 1 0 0 0 NM_000771.3:c.961+2337G>T, 45630770, 45631363, NG_008385.2:g.41425G>T, NC_000010.10:g.96734339G>T, NC_000010.11:g.94974582=, XM_005269575.1:c.961+2337G>T, rs10509680, NG_008385.2:g.41425=, NC_000010.10:g.96734339=, NC_000010.11:g.94974582G>T, rs45630770, rs45631363, 10509680, NG_008385.1:g.40925=, NG_008385.1:g.40925G>T +PA166154110 rs10509681 PA125 CYP2C8 NC_000010.11:95038992 65 15 12 0 0 XR_945610.1:n.1331A>G, rs17522568, NC_000010.11:g.95038992=, rs56435423, NC_000010.11:g.95038992T>C, NP_001185783.1:p.Lys297Arg, NC_000010.10:g.96798749T>C, NM_001198854.1:c.890A>G, NC_000010.10:g.96798749=, 17522568, 56435423, 61450273, NP_001185784.1:p.Lys329Arg, NP_001185782.1:p.Lys329Arg, NM_001198855.1:c.986A>G, rs61450273, NP_000761.3:p.Lys399=, NP_000761.3:p.Lys399Arg, 10509681, NM_000770.3:c.1196A>G, XR_246073.1:n.1331A>G, NG_007972.1:g.35506=, NG_007972.1:g.35506A>G, rs10509681, NM_001198853.1:c.986A>G +PA166154111 rs10510050 PA27699 EIF3A NC_000010.11:118867050 1 1 0 0 0 rs56784207, NC_000010.10:g.120626562A>G, NC_000010.11:g.118867050=, NC_000010.11:g.118867050A>G, 17665375, rs10510050, 10510050, NC_000010.10:g.120626562=, NC_000010.10:g.120626562A>T, 56784207, NC_000010.11:g.118867050A>T, XR_946355.1:n.-742T>C, rs17665375 +PA166157806 rs10511905 NC_000009.12:32348026 1 1 0 0 0 NC_000009.12:g.32348026A>G, 17287836, rs17287836, rs60437187, NC_000009.11:g.32348024=, NC_000009.11:g.32348024A>G, 10511905, NC_000009.12:g.32348026=, rs10511905, 60437187 +PA166232209 rs10512285 PA28983 GRIN3A NC_000009.12:101670752 1 0 0 0 0 NC_000009.12:g.101670752=, NC_000009.12:g.101670752A>G, 10512285, NP_597702.2:p.Leu554=, rs10512285, NC_000009.11:g.104433034=, 17198450, NC_000009.11:g.104433034A>G +PA166157807 rs10512361 NC_000009.12:108212718 1 0 0 0 0 NC_000009.12:g.108212718=, 56518390, NC_000009.12:g.108212718T>C, 57059743, 10512361, rs10512361, XR_930239.1:n.460+97948A>G, 117721483, rs56518390, NC_000009.11:g.110974998=, rs57059743, NC_000009.11:g.110974998T>C, rs117721483 +PA166155986 rs1051266 PA327 SLC19A1 NC_000021.9:45537880 70 8 0 0 0 3171496, rs3171496, XP_011528000.1:p.His49Arg, XM_011529708.1:c.80A>G, NG_028278.2:g.30264A>C, XP_011528007.1:p.His124Arg, XP_011527999.1:p.His124Arg, XM_011529701.1:c.80A>G, XM_011529697.1:c.371A>G, NG_028278.2:g.30264=, NG_028278.1:g.9592A>G, rs17844977, XM_011529704.1:c.80A>G, NP_919231.1:p.His27=, NG_028278.2:g.30264A>G, NC_000021.8:g.46957794=, NP_001192135.1:p.His27Arg, NP_919231.1:p.His27Arg, rs17857726, XM_011529709.1:c.-279A>G, XP_011528003.1:p.His27Arg, XM_011529710.1:c.-165-5732A>G, XP_005261220.1:p.His27Arg, XP_011528002.1:p.His27Arg, rs1051266, XM_011529702.1:c.80A>G, NM_001205206.1:c.80A>G, NM_194255.2:c.80A>G, NC_000021.8:g.46957794T>G, NC_000021.8:g.46957794T>C, XM_011529705.1:c.371A>G, NC_000021.9:g.45537880=, XM_005261164.2:c.-279A>G, XP_011528006.1:p.His27Arg, XP_011528004.1:p.His27Arg, XP_011528005.1:p.His27Arg, XP_011528009.1:p.His124Arg, XP_011528010.1:p.His27Arg, XM_005261163.1:c.80A>G, 61510559, NP_919231.1:p.His27Pro, rs386514057, NC_000021.9:g.45537880T>G, 17844977, XM_011529698.1:c.146A>G, XM_011529707.1:c.371A>G, 386514057, XM_005261164.1:c.-279A>G, NC_000021.9:g.45537880T>C, XM_011529699.1:c.-1639A>G, XP_011527998.1:p.His124Arg, 17857726, XM_011529700.1:c.80A>G, 1051266, XM_011529703.1:c.80A>G, XM_011529696.1:c.371A>G, rs61510559 +PA166156864 rs10512734 PA289 PTGER4 NC_000005.10:40393503 1 0 0 0 0 NC_000005.10:g.40393503A>C, NC_000005.9:g.40393605=, rs386514060, rs57228475, NC_000005.9:g.40393605A>T, NC_000005.10:g.40393503A>T, NC_000005.9:g.40393605A>G, rs10512734, 386514060, NC_000005.10:g.40393503=, NC_000005.10:g.40393503A>G, 10512734, 57228475, NC_000005.9:g.40393605A>C +PA166155987 rs1051296 PA327 SLC19A1 NC_000021.9:45514947 1 1 0 0 0 XM_011529696.1:c.*711T>G, NG_011903.1:g.114756A>C, NC_000021.8:g.46934861A>C, XM_011529705.1:c.*29T>G, XM_005261164.2:c.*711T>G, NM_194255.2:c.*711T>G, XM_011529707.1:c.1584+10870T>G, 3171494, rs1051296, rs3171494, 1051296, NC_000021.9:g.45514947=, XM_011529708.1:c.*711T>G, NG_028278.2:g.53197T>G, XM_011529699.1:c.*711T>G, NM_001205207.1:c.*711T>G, XM_011529698.1:c.*711T>G, NG_028278.2:g.53197=, XM_011529697.1:c.*711T>G, XM_011529709.1:c.*711T>G, NC_000021.9:g.45514947A>C, XM_011529700.1:c.*711T>G, XM_011529702.1:c.*711T>G, XM_011529710.1:c.*711T>G, XM_011529703.1:c.*711T>G, NG_011903.1:g.114756=, XM_005261164.1:c.*711T>G, XM_011529704.1:c.*711T>G, XM_011529706.1:c.*711T>G, NC_000021.8:g.46934861=, XM_005261163.1:c.*711T>G, NG_028278.1:g.32525T>G, NM_001205206.1:c.*29T>G, XM_011529701.1:c.*711T>G +PA166155988 rs1051298 PA327 SLC19A1 NC_000021.9:45514912 2 1 0 0 0 XM_011529708.1:c.*746C>T, XM_011529706.1:c.*746C>T, XM_011529709.1:c.*746C>T, rs1051298, XM_011529704.1:c.*746C>T, NG_011903.1:g.114721=, rs3178001, XM_011529703.1:c.*746C>T, 1051298, 3178001, NC_000021.8:g.46934826=, NM_001205206.1:c.*64C>T, XM_011529697.1:c.*746C>T, NM_001205207.1:c.*746C>T, NG_028278.2:g.53232=, NG_011903.1:g.114721G>A, NC_000021.8:g.46934826G>A, XM_011529696.1:c.*746C>T, NG_028278.1:g.32560C>T, XM_011529698.1:c.*746C>T, XM_005261164.1:c.*746C>T, NM_194255.2:c.*746C>T, XM_011529699.1:c.*746C>T, XM_005261163.1:c.*746C>T, XM_011529705.1:c.*64C>T, XM_011529707.1:c.1584+10905C>T, XM_011529700.1:c.*746C>T, XM_011529701.1:c.*746C>T, NC_000021.9:g.45514912G>A, NG_028278.2:g.53232C>T, XM_005261164.2:c.*746C>T, XM_011529702.1:c.*746C>T, NC_000021.9:g.45514912=, XM_011529710.1:c.*746C>T +PA166170589 rs1051312 PA35980 SNAP25 NC_000020.11:10306440 3 0 0 0 0 1051312, rs1051312, NG_029626.1:g.92612T>C, NC_000020.10:g.10287088T>C, NC_000020.11:g.10306440T>C, 3191687, 386425879, NC_000020.11:g.10306440=, NC_000020.10:g.10287088=, NG_029626.1:g.92612= +PA166179478 rs10513202 PA118 SLC31A1 NC_000009.12:113262679 1 0 0 0 0 10513202, NC_000009.11:g.116024959=, NC_000009.12:g.113262679=, NC_000009.12:g.113262679A>G, NC_000009.11:g.116024959A>G, rs10513202 +PA166154509 rs1051375 PA83 CACNA1C NC_000012.12:2679713 3 1 0 0 0 XM_005253765.1:c.5655G>A, XP_005253839.1:p.Thr1790=, XM_011521019.1:c.2217G>A, NM_001129837.1:c.5385G>A, XM_005253767.1:c.5337G>A, NP_001123309.1:p.Thr1795=, NP_955630.3:p.Thr1835=, XM_005253771.1:c.5370G>A, NM_001129838.1:c.5385G>A, XM_005253777.1:c.5421G>A, XM_005253770.1:c.5370G>A, XP_005253827.1:p.Thr1790=, XP_006719080.1:p.Thr1817=, XM_011521021.1:c.5361G>A, NP_001123303.1:p.Thr1815=, XM_011521022.1:c.5361G>A, NM_001129833.1:c.5418G>A, NM_001129834.1:c.5418G>A, NM_001129831.1:c.5445G>A, NP_001123311.1:p.Thr1793=, XP_005253835.1:p.Thr1798=, NM_001167623.1:c.5361G>A, NM_001129839.1:c.5379G>A, XM_005253785.1:c.5370G>A, XM_005253773.1:c.5430G>A, NP_001123299.1:p.Thr1835=, NP_001123304.1:p.Thr1807=, XM_011521020.1:c.5526G>A, XP_005253838.1:p.Thr1790=, NP_001123307.1:p.Thr1806=, NM_199460.3:c.5505G>A, XP_011519320.1:p.Thr1369=, rs3191761, NG_008801.2:g.713928G>C, XM_005253784.1:c.5370G>A, NP_001123316.1:p.Thr1784=, XM_005253769.1:c.5493G>A, NG_008801.2:g.713928G>A, XM_005253775.1:c.5427G>A, XM_005253783.1:c.5370G>A, XP_011519323.1:p.Thr1787=, XM_005253774.1:c.5427G>A, XM_005253782.1:c.5370G>A, NM_001167624.2:c.5361G>A, NP_001161097.1:p.Thr1776=, XM_005253781.1:c.5370G>A, XP_005253826.1:p.Thr1831=, NP_001123305.1:p.Thr1806=, XM_005253776.1:c.5427G>A, XP_005253828.1:p.Thr1790=, NM_001129830.1:c.5361G>A, XP_005253832.1:p.Thr1809=, XM_005253766.1:c.5514G>A, NP_001123310.1:p.Thr1795=, NP_001123313.1:p.Thr1787=, XP_005253829.1:p.Thr1818=, 17756424, NM_001129846.1:c.5328G>A, XM_005253768.1:c.5514G>A, XP_005253841.1:p.Thr1790=, XP_005253844.1:p.Thr1779=, XM_005253786.1:c.5361G>A, XP_005253843.1:p.Thr1787=, XP_011519321.1:p.Thr739=, NP_001123315.1:p.Thr1787=, NP_001161095.1:p.Thr1787=, NP_001123306.1:p.Thr1806=, NP_001123301.1:p.Thr1828=, XP_005253822.1:p.Thr1885=, rs1051375, XP_005253830.1:p.Thr1810=, NC_000012.11:g.2788879=, 1051375, XM_005253772.1:c.5454G>A, XM_005253787.1:c.5337G>A, NM_001167625.1:c.5328G>A, XP_011519324.1:p.Thr1787=, XP_011519319.1:p.Thr1554=, NM_001129836.1:c.5412G>A, XM_005253779.1:c.5394G>A, XM_005253778.1:c.5394G>A, rs17756424, XP_005253834.1:p.Thr1807=, XP_005253836.1:p.Thr1798=, NG_008801.2:g.713928=, NP_000710.5:p.Thr1787=, rs3751251, NM_001129832.1:c.5421G>A, XP_005253824.1:p.Thr1779=, NM_001129830.2:c.5361G>A, NC_000012.11:g.2788879G>A, NM_001129844.1:c.5352G>A, XM_005253780.1:c.5388G>A, NP_001123308.1:p.Thr1804=, NC_000012.11:g.2788879G>C, 3191761, NM_001129829.1:c.5484G>A, XM_005253788.1:c.3267G>A, NM_000719.6:c.5361G>A, XP_011519322.1:p.Thr1842=, NP_001123302.1:p.Thr1787=, XM_011521023.1:c.5436G>A, NC_000012.12:g.2679713G>A, XM_011521017.1:c.4662G>A, NC_000012.12:g.2679713G>C, NM_001129835.1:c.5418G>A, NP_001123318.1:p.Thr1776=, NC_000012.12:g.2679713=, NM_001129843.1:c.5361G>A, XP_011519325.1:p.Thr1812=, NM_001129841.1:c.5361G>A, NM_001129842.1:c.5361G>A, NM_001129840.1:c.5361G>A, XP_005253845.1:p.Thr1089=, XM_011521018.1:c.4107G>A, XP_005253825.1:p.Thr1838=, XP_005253833.1:p.Thr1809=, XP_005253840.1:p.Thr1790=, NP_001123312.1:p.Thr1787=, XP_005253842.1:p.Thr1790=, NP_001161096.2:p.Thr1787=, NR_045725.1:n.334-1816C>T, 3751251, XP_005253837.1:p.Thr1796=, NM_001129827.1:c.5505G>A, XM_006719017.1:c.5451G>A, NP_001123314.1:p.Thr1787=, XP_005253823.1:p.Thr1838=, NP_001123302.2:p.Thr1787=, XP_005253831.1:p.Thr1809= +PA166180979 rs10513762 PA30979 MRPL47 NC_000003.12:179588987 1 0 0 0 0 NP_065142.2:p.Arg213His, 11553296, NC_000003.11:g.179306775C>T, NC_000003.12:g.179588987C>T, NC_000003.11:g.179306775=, NP_065142.2:p.Arg213=, 10513762, 59617374, NC_000003.12:g.179588987=, rs10513762 +PA166156865 rs10514062 PA134888452 SV2C NC_000005.10:76182391 1 0 0 0 0 rs56604517, 61608801, XM_011543281.1:c.581-12528T>A, rs10514062, NC_000005.9:g.75478216=, rs58881068, rs61608801, NM_014979.3:c.581-12528T>A, 58881068, 10514062, 56604517, NC_000005.10:g.76182391=, NC_000005.10:g.76182391T>G, NC_000005.9:g.75478216T>G, NC_000005.9:g.75478216T>A, XM_005248470.1:c.581-12528T>A, XM_011543282.1:c.9-27345T>A, NC_000005.9:g.75478216T>C, NM_001297716.1:c.581-12528T>A, NC_000005.10:g.76182391T>A, NC_000005.10:g.76182391T>C +PA166314362 rs10514231 PA134872167 ATG10 NC_000005.10:82011593 2 0 0 0 0 NC_000005.10:g.82011593=, NC_000005.10:g.82011593C>T, NC_000005.9:g.81307412C>A, NC_000005.10:g.82011593C>A, 58221595, 10514231, NC_000005.9:g.81307412C>T, NC_000005.9:g.81307412C>G, rs10514231, NC_000005.9:g.81307412=, NC_000005.10:g.82011593C>G +PA166155100 rs10514475 NC_000016.10:79957795 1 1 0 0 0 NC_000016.10:g.79957795=, NC_000016.9:g.79991692G>A, rs10514475, NC_000016.10:g.79957795G>A, rs58824267, 10514475, NC_000016.9:g.79991692=, 58824267 +PA166165378 rs10515074 PA33312 PIK3R1 NC_000005.10:68270365 2 1 0 0 0 10515074, rs10515074, NC_000005.9:g.67566193A>G, NG_012849.2:g.59610A>T, 59816263, NC_000005.10:g.68270365=, NC_000005.10:g.68270365A>G, NG_012849.2:g.59610A>G, NC_000005.9:g.67566193A>T, NC_000005.9:g.67566193=, NC_000005.10:g.68270365A>T, NG_012849.2:g.59610= +PA166156866 rs10515115 PA162381084 CARTPT NC_000005.10:71716480 2 0 0 0 0 NC_000005.10:g.71716480T>A, NC_000005.9:g.71012307T>A, 117462073, NC_000005.9:g.71012307T>C, NC_000005.10:g.71716480T>C, NG_015988.1:g.2318=, rs17358014, NG_015988.1:g.2318T>A, NG_015988.1:g.2318T>C, rs10515115, NG_015988.1:g.2318T>G, rs117462073, NC_000005.9:g.71012307T>G, 10515115, NC_000005.10:g.71716480T>G, NC_000005.9:g.71012307=, 17358014, NC_000005.10:g.71716480= +PA166270081 rs10515807 PA33 ADRA1B NC_000005.10:159937991 2 0 0 0 0 NC_000005.9:g.159364998G>A, NC_000005.9:g.159364998=, rs10515807, 10515807, NC_000005.10:g.159937991=, 61330547, NC_000005.10:g.159937991G>A +PA166155176 rs1051640 PA376 ABCC3 NC_000017.11:50691125 5 1 0 0 0 NC_000017.10:g.48768486=, XM_011525424.1:c.3834A>G, XP_011523726.1:p.Glu1278=, XM_011525422.1:c.4422A>G, 17643255, XP_011523724.1:p.Glu1474=, 57272614, rs17414117, XM_005257763.1:c.4317A>G, NC_000017.11:g.50691125A>G, 17414117, XM_011525425.1:c.3783A>G, NC_000017.11:g.50691125=, 3192040, XP_011523727.1:p.Glu1261=, rs3192040, XM_011525423.1:c.4614A>G, rs60786737, XM_005257763.2:c.4317A>G, rs1051640, NC_000017.10:g.48768486A>G, 1051640, XP_005257820.1:p.Glu1439=, NM_003786.3:c.4509A>G, 60786737, XR_934586.1:n.4970A>G, XP_011523725.1:p.Glu1538=, rs57272614, NP_003777.2:p.Glu1503=, rs17643255 +PA166185686 rs10516440 NC_000004.12:99384236 1 1 0 0 0 10516440, rs10516440, NC_000004.12:g.99384236A>G, NC_000004.11:g.100305393=, NC_000004.12:g.99384236=, 58005957, NC_000004.11:g.100305393A>G +PA166157551 rs1051660 PA31943 OPRK1 NC_000008.11:53251002 10 2 0 0 0 NC_000008.10:g.54163562C>G, XM_005251252.1:c.36G>T, NC_000008.11:g.53251002C>T, XP_005251309.1:p.Pro12=, rs1051660, NM_000912.4:c.36G>T, NC_000008.10:g.54163562=, NC_000008.11:g.53251002C>A, rs117944911, 1051660, XM_005251253.1:c.-406G>T, NP_001305426.1:p.Pro12=, 117944911, NC_000008.11:g.53251002C>G, NC_000008.10:g.54163562C>T, NP_000903.2:p.Pro12=, NC_000008.10:g.54163562C>A, NC_000008.11:g.53251002=, NM_001282904.1:c.-406G>T, NM_001318497.1:c.36G>T +PA166155619 rs1051685 PA37425 XRCC5 NC_000002.12:216205653 2 1 0 0 0 59137106, NC_000002.11:g.217070376=, 1051685, NM_021141.3:c.*451A>G, rs3192081, 3192081, NG_029780.1:g.101357A>G, XM_005246836.1:c.*451A>G, rs1051685, NC_000002.11:g.217070376A>G, NC_000002.12:g.216205653=, NG_029780.1:g.101357=, NC_000002.12:g.216205653A>G, rs59137106 +PA166154980 rs10517 PA31744 NQO1 NC_000016.10:69709857 4 2 0 0 0 NC_000016.10:g.69709857A>G, rs1131357, 1131357, NC_000016.9:g.69743760=, NM_001025433.1:c.*1119T>C, NG_011504.1:g.21774T>C, NC_000016.9:g.69743760A>T, NG_011504.1:g.21774T>A, NM_000903.2:c.*1119T>C, NC_000016.10:g.69709857A>C, NG_011504.1:g.21774T>G, NM_001286137.1:c.*1119T>C, NG_011504.1:g.21774=, 10517, NM_001025434.1:c.*1119T>C, NC_000016.9:g.69743760A>C, NC_000016.10:g.69709857A>T, NC_000016.9:g.69743760A>G, rs386514164, 60683463, NG_011504.2:g.21774=, XM_005255830.1:c.*1119T>C, rs60683463, 3191227, rs3191227, rs10517, 386514164, NC_000016.10:g.69709857=, NG_011504.2:g.21774T>G, NG_011504.2:g.21774T>A, NG_011504.2:g.21774T>C +PA166154856 rs1051730 PA113 CHRNA3 NC_000015.10:78601997 22 9 0 0 0 1051730, rs1051730, rs59313803, NP_000734.2:p.Tyr215=, NM_001166694.1:c.645C>T, XP_011519475.1:p.Tyr188=, NR_046313.1:n.1146C>T, NG_016143.1:g.24299=, NM_000743.4:c.645C>T, 59313803, NP_001160166.1:p.Tyr215=, NC_000015.10:g.78601997=, 117683679, XM_011521173.1:c.564C>T, rs17486992, NC_000015.10:g.78601997G>A, rs117683679, rs386514167, NC_000015.9:g.78894339=, XP_006720445.1:p.Tyr148=, XM_006720382.1:c.444C>T, NC_000015.9:g.78894339G>A, NG_016143.1:g.24299C>T, 386514167, 17486992 +PA166153612 rs1051740 PA27829 EPHX1 NC_000001.11:225831932 20 5 0 0 0 NM_000120.3:c.337T>C, rs2259405, NG_009776.1:g.26837T>C, NP_000111.1:p.Tyr113His, XM_005273085.1:c.337T>C, NG_009776.1:g.26837=, 16845366, NM_001291163.1:c.337T>C, rs52794507, NP_001278092.1:p.Tyr113His, 2259405, NP_001129490.1:p.Tyr113His, NC_000001.10:g.226019633T>C, rs59266540, NP_000111.1:p.Tyr113=, NM_001136018.3:c.337T>C, rs16845366, rs3192120, 17417482, 1051740, NC_000001.11:g.225831932=, 59266540, rs1051740, 52794507, 3192120, rs1800444, rs17417482, NC_000001.11:g.225831932T>C, 1800444, XP_005273142.1:p.Tyr113His, NC_000001.10:g.226019633= +PA166153613 rs1051741 PA27829,PA142670776 EPHX1,TMEM63A NC_000001.11:225844528 1 0 0 0 0 NC_000001.10:g.226032229=, NG_009776.1:g.39433=, 60193447, XP_005273142.1:p.Asn357=, NC_000001.10:g.226032229C>T, NG_009776.1:g.39433C>T, rs56555531, XM_005273085.1:c.1071C>T, 56555531, NC_000001.11:g.225844528=, NP_001129490.1:p.Asn357=, NM_001136018.3:c.1071C>T, 1051741, rs1051741, NM_000120.3:c.1071C>T, NP_001278092.1:p.Asn357=, XR_949163.1:n.2830+2310G>A, rs3192122, 3192122, rs60193447, NM_001291163.1:c.1071C>T, NC_000001.11:g.225844528C>T, rs2292569, 2292569, NP_000111.1:p.Asn357= +PA166280821 rs1051775 PA29016 GSTA1 NC_000006.12:52794164 2 0 0 0 0 72936016, 1051775, rs1051775, NC_000006.11:g.52658962=, 59380454, NC_000006.12:g.52794164=, NC_000006.12:g.52794164T>C, NP_665683.1:p.Lys125=, 3173495, NC_000006.11:g.52658962T>C +PA166238462 rs1051792 PA30811 MICA NC_000006.12:31411200 3 1 0 0 0 114755437, NC_000006.11:g.31378977G>A, 17858408, NC_000006.11:g.31378977=, 3819270, NC_000006.12:g.31411200=, NP_001170990.1:p.Val152=, rs1051792, 3192169, 17885687, 1051792, 111625841, 117288857, 16897487, NC_000006.12:g.31411200G>A, NG_034139.1:g.16518A>G, 17845518, NP_001170990.1:p.Val152Met +PA166157717 rs1051922 PA29672 IFNB1 NC_000009.12:21077717 1 0 0 0 0 rs1051922, 17612313, NC_000009.12:g.21077717G>C, 1051922, NC_000009.12:g.21077717G>A, NP_002167.1:p.Tyr51Ter, NC_000009.11:g.21077716=, rs3750474, 3750474, NC_000009.12:g.21077717=, NM_002176.3:c.153C>T, 60564429, NP_002167.1:p.Tyr51=, rs17612313, NC_000009.11:g.21077716G>C, NC_000009.11:g.21077716G>A, rs60564429 +PA166170020 rs1052133 PA26048,PA31912 CAMK1,OGG1 NC_000003.12:9757089 2 0 0 0 0 NC_000003.11:g.9798773C>G, NP_002533.1:p.Ser326Phe, 59989261, 17857568, rs1052133, 4134729, 1052133, NG_012106.1:g.12146C>T, NC_000003.12:g.9757089C>T, 17844853, NP_002533.1:p.Ser326Cys, NC_000003.12:g.9757089C>G, 3192526, NC_000003.12:g.9757089=, NC_000003.11:g.9798773=, NC_000003.11:g.9798773C>T, NG_012106.1:g.12146=, NP_002533.1:p.Ser326=, NG_012106.1:g.12146C>G, 1805372 +PA166155177 rs1052536 PA30374 LIG3 NC_000017.11:35004556 3 1 0 0 0 NG_029221.1:g.29059C>T, rs56593019, XM_005257970.1:c.*50C>T, 17667663, NC_000017.10:g.33331575=, XM_005257971.1:c.*50C>T, 56593019, XM_011524800.1:c.2823+1767C>T, NM_013975.3:c.*50C>T, NC_000017.11:g.35004556C>T, NC_000017.10:g.33331575C>T, 1052536, NC_000017.11:g.35004556=, 59815732, rs1052536, XM_011524799.1:c.2796+1767C>T, 60821611, 3192959, rs59815732, rs3192959, NG_029221.1:g.29059=, XM_011524798.1:c.2796+1767C>T, XM_005257970.2:c.*50C>T, rs17667663, rs60821611, XM_011524797.1:c.2823+1767C>T +PA166155361 rs1052555 PA27848 ERCC2 NC_000019.10:45352266 3 1 0 0 0 XM_005258640.1:c.1899C>T, rs1052555, 1052555, rs17285183, 3916880, NC_000019.10:g.45352266G>A, XM_011526611.1:c.2055C>T, rs3916880, XP_011524913.1:p.Asp685=, rs3170170, 3170170, NC_000019.10:g.45352266=, XP_005258698.1:p.Asp465=, NM_000400.3:c.2133C>T, NC_000019.9:g.45855524=, NG_007067.2:g.23322C>T, XM_005258641.1:c.1395C>T, NP_000391.1:p.Asp711=, 17285183, XP_005258697.1:p.Asp633=, NG_007067.2:g.23322=, XM_005258639.1:c.2061C>T, XP_005258696.1:p.Asp687=, NC_000019.9:g.45855524G>A +PA166160225 rs1052587 PA238 MAPT NC_000017.11:46025238 1 0 0 0 0 113373871, NG_007398.2:g.135776T>C, NG_007398.1:g.135826=, NC_000017.10:g.44102604=, NC_000017.10:g.44102604T>C, 1052587, NC_000017.11:g.46025238T>C, NG_007398.1:g.135826T>C, NC_000017.11:g.46025238=, NG_007398.2:g.135776=, rs1052587, 17574019 +PA166183761 rs1052700 PA134871338,PA33409 KIF7,PLIN1 NC_000015.10:89665079 1 0 0 0 0 NC_000015.9:g.90208310A>G, NC_000015.10:g.89665079=, NC_000015.10:g.89665079A>C, rs1052700, NG_029172.1:g.19339=, 1052700, NC_000015.10:g.89665079A>G, 3193165, NG_029172.1:g.19339T>G, NC_000015.9:g.90208310A>T, NC_000015.9:g.90208310=, NC_000015.10:g.89665079A>T, NG_029172.1:g.19339T>C, 17847335, NG_029172.1:g.19339T>A, NC_000015.9:g.90208310A>C +PA166155178 rs1053004 PA337 STAT3 NC_000017.11:42314074 3 0 0 0 0 XM_005257617.1:c.*1671C>T, XM_005257618.1:c.*1671C>T, XM_011525146.1:c.*1765C>T, 17884455, XM_005257619.1:c.*1765C>T, NG_007370.1:g.79422C>T, XM_005257614.1:c.*2602C>T, XM_005257613.1:c.*2602C>T, NC_000017.10:g.40466092G>A, NC_000017.11:g.42314074G>A, rs3744482, 3744482, NM_139276.2:c.*1671C>T, XM_005257620.1:c.*1765C>T, XM_011525145.1:c.*1671C>T, NC_000017.10:g.40466092=, NG_007370.1:g.79422=, rs1053004, 1053004, NM_003150.3:c.*1671C>T, rs17501473, XM_005257616.2:c.*1671C>T, XM_005257617.2:c.*1671C>T, NM_213662.1:c.*1765C>T, XM_005257616.1:c.*1671C>T, rs17884455, NC_000017.11:g.42314074=, XM_005257615.1:c.*1671C>T, 17501473 +PA166155179 rs1053005 PA337 STAT3 NC_000017.11:42313892 2 0 0 0 0 NM_003150.3:c.*1853A>G, NC_000017.10:g.40465910T>C, NM_139276.2:c.*1853A>G, NC_000017.10:g.40465910=, NC_000017.11:g.42313892T>C, XM_005257620.1:c.*1947A>G, XM_005257614.1:c.*2784A>G, XM_005257613.1:c.*2784A>G, NG_007370.1:g.79604A>G, rs58259315, 1053005, XM_005257615.1:c.*1853A>G, rs57474614, rs1053005, XM_005257618.1:c.*1853A>G, XM_005257619.1:c.*1947A>G, XM_005257616.1:c.*1853A>G, NG_007370.1:g.79604=, XM_005257617.1:c.*1853A>G, rs386514322, XM_005257616.2:c.*1853A>G, NC_000017.11:g.42313892=, XM_011525145.1:c.*1853A>G, rs3169725, 3169725, 58259315, XM_011525146.1:c.*1947A>G, 57474614, NM_213662.1:c.*1947A>G, 386514322, XM_005257617.2:c.*1853A>G +PA166155180 rs1053023 PA337 STAT3 NC_000017.11:42313598 1 0 0 0 0 XM_005257613.1:c.*3078A>G, NC_000017.11:g.42313598T>A, 17884013, NC_000017.11:g.42313598T>C, NC_000017.10:g.40465616T>C, XM_005257616.2:c.*2147A>G, NM_139276.2:c.*2147A>G, NM_213662.1:c.*2241A>G, XM_011525145.1:c.*2147A>G, NC_000017.10:g.40465616T>A, NM_003150.3:c.*2147A>G, NG_007370.1:g.79898A>T, XM_005257614.1:c.*3078A>G, XM_005257616.1:c.*2147A>G, XM_005257617.1:c.*2147A>G, NC_000017.10:g.40465616=, XM_011525146.1:c.*2241A>G, XM_005257618.1:c.*2147A>G, 1053023, XM_005257619.1:c.*2241A>G, NG_007370.1:g.79898A>G, NC_000017.11:g.42313598=, NG_007370.1:g.79898=, rs1053023, rs3785899, 3785899, XM_005257617.2:c.*2147A>G, XM_005257620.1:c.*2241A>G, 3169724, rs3169724, rs17884013, XM_005257615.1:c.*2147A>G +PA166156751 rs1053129 PA143 DHFR NC_000005.10:80626901 1 1 0 0 0 NG_023304.1:g.33081G>T, NC_000005.10:g.80626901C>T, NG_023304.1:g.33081=, NM_001290354.1:c.*2186G>T, NC_000005.9:g.79922720C>A, NC_000005.10:g.80626901C>G, NC_000005.9:g.79922720C>G, NC_000005.10:g.80626901C>A, rs3991272, 3991272, NM_000791.3:c.*2186G>T, NC_000005.9:g.79922720C>T, NR_110936.1:n.3065G>T, rs374534748, rs16877939, NC_000005.10:g.80626901=, XM_005248455.1:c.*2186G>T, rs11550956, 3175968, rs3175968, rs1053129, XM_005248456.1:c.*2186G>T, 1053129, NM_001290357.1:c.*2244G>T, 374534748, NG_023304.1:g.33081G>C, 1643629, rs1643629, 16877939, 11550956, NG_023304.1:g.33081G>A, NC_000005.9:g.79922720= +PA166153614 rs1053316 PA143485536 MIA3 NC_000001.11:222666496 1 0 0 0 0 NM_001300867.1:c.*877A>G, NC_000001.10:g.222839838=, NC_000001.11:g.222666496A>G, XM_005273122.1:c.*877A>G, 56423768, rs1053316, 1053316, NC_000001.11:g.222666496A>C, NM_198551.3:c.*877A>G, XM_005273121.1:c.*877A>G, NC_000001.10:g.222839838A>C, rs3193829, 3193829, rs56423768, NC_000001.10:g.222839838A>G, XM_005273121.3:c.*877A>G, NC_000001.11:g.222666496=, XM_006711304.2:c.*877A>G +PA166159126 rs10538494 PA391 NR1I3 NC_000001.11:161236915 1 1 0 0 0 NC_000001.11:g.161236915=, 35360912, rs10538494, 60892844, NC_000001.11:g.161236915A>T, NG_029113.1:g.6296T>A, 10538494, 56735168, NC_000001.10:g.161206705=, NC_000001.10:g.161206705A>T, NG_029113.1:g.6296=, 75090438 +PA166159622 rs1054097 PA142672383,PA134976803 C3orf22,CHST13 NC_000003.12:126543249 1 0 0 0 0 NC_000003.12:g.126543249=, NG_029855.1:g.23962G>C, NC_000003.12:g.126543249G>A, rs1054097, NC_000003.11:g.126262092=, NG_029855.1:g.23962G>A, NC_000003.12:g.126543249G>C, 3172308, NC_000003.11:g.126262092G>C, NG_029855.1:g.23962=, 1054097, NC_000003.11:g.126262092G>A +PA166156305 rs1054190 PA378 NR1I2 NC_000003.12:119817871 1 0 0 0 0 rs17203829, 56558716, NC_000003.11:g.119536718=, NC_000003.12:g.119817871C>T, NM_033013.2:c.*659C>T, NG_011856.1:g.42388C>T, 57770599, XM_005247866.1:c.995+2040C>T, 17203829, 3194719, rs56558716, rs3194719, rs1054190, rs57770599, 1054190, NM_022002.2:c.*659C>T, NC_000003.12:g.119817871=, NM_003889.3:c.*659C>T, NG_011856.1:g.42388=, NC_000003.11:g.119536718C>T +PA166156306 rs1054191 PA378 NR1I2 NC_000003.12:119818050 1 0 0 0 0 NM_003889.3:c.*838G>A, NM_033013.2:c.*838G>A, XM_005247866.1:c.995+2219G>A, rs17838785, NG_011856.1:g.42567G>C, NG_011856.1:g.42567G>A, NM_022002.2:c.*838G>A, 17809762, rs57939560, rs17809762, NC_000003.12:g.119818050=, rs3194721, 3194721, 57939560, NC_000003.12:g.119818050G>A, 17838785, 1054191, rs1054191, NC_000003.12:g.119818050G>C, NC_000003.11:g.119536897=, NC_000003.11:g.119536897G>A, NG_011856.1:g.42567=, NC_000003.11:g.119536897G>C +PA166155005 rs1054645 PA380 CACNA1H NC_000016.10:1220162 1 0 0 0 0 XM_005255652.1:c.6212G>A, XP_011521027.1:p.Arg1099His, XP_005255710.1:p.Arg2066His, 3195163, NM_021098.2:c.6230G>A, XM_005255653.1:c.6197G>A, XP_005255712.1:p.Arg2082His, rs3195163, 1054645, 17745303, NG_012647.1:g.71922=, rs1054645, XP_006721026.1:p.Arg2082His, XP_006721028.1:p.Arg2060His, NC_000016.9:g.1270162G>C, XM_011522724.1:c.5699G>A, XM_011522725.1:c.3296G>A, NP_066921.2:p.Arg2077Pro, NC_000016.9:g.1270162=, XM_005255654.1:c.6179G>A, XM_006720963.2:c.6245G>A, NC_000016.10:g.1220162G>A, 60109536, rs60109536, NP_066921.2:p.Arg2077=, NC_000016.10:g.1220162G>C, XM_006720964.2:c.6197G>A, XP_006721027.1:p.Arg2066His, NC_000016.10:g.1220162=, NP_066921.2:p.Arg2077His, NM_001005407.1:c.6212G>A, NP_001005407.1:p.Arg2071His, XP_011521026.1:p.Arg1900His, XM_005255655.1:c.6245G>A, XP_005255711.1:p.Arg2060His, rs3751890, 3751890, rs17745303, NC_000016.9:g.1270162G>A, NG_012647.1:g.71922G>C, XM_005255652.3:c.6212G>A, XP_005255709.1:p.Arg2071His, NG_012647.1:g.71922G>A, XM_006720965.2:c.6179G>A +PA166157718 rs1054774 PA26316,PA167 CDK9,FPGS NC_000009.12:127792719 1 0 0 0 0 NG_033942.1:g.11694=, NC_000009.11:g.130554998T>A, rs58852618, NC_000009.11:g.130554998=, NG_033942.1:g.11694T>A, 58852618, 3195291, NC_000009.12:g.127792719=, rs1054774, NC_000009.12:g.127792719T>A, rs3195291, 1054774 +PA166153615 rs1056515 PA34376 RGS5 NC_000001.11:163143470 1 1 0 0 0 111183181, NG_027731.2:g.183322=, NC_000001.10:g.163113260G>T, NM_001254748.1:c.*3872C>A, 386514407, rs1056515, NM_001254749.1:c.*3872C>A, 1056515, 58775087, rs111183181, NC_000001.11:g.163143470G>T, NG_027731.2:g.183322C>A, NM_001195303.2:c.*3872C>A, rs386514407, rs59069797, rs58775087, NC_000001.11:g.163143470=, NC_000001.10:g.163113260=, 59069797, NM_003617.3:c.*3872C>A +PA166157285 rs1056663 PA29564 HUS1 NC_000007.14:47965365 1 0 0 0 0 XM_011515163.1:c.-860G>A, NC_000007.14:g.47965365=, NP_004498.1:p.Ala278=, 11551143, NC_000007.13:g.48004962C>T, NM_004507.3:c.834G>A, NC_000007.13:g.48004962=, rs1056663, 1056663, 3734930, rs11551143, rs3734930, NC_000007.14:g.47965365C>T, rs3167783, 3167783, NR_037917.1:n.998G>A +PA166155620 rs1056827 PA27094 CYP1B1 NC_000002.12:38075034 2 1 0 0 0 rs3172103, NC_000002.12:g.38075034=, NG_008386.2:g.6068=, rs1056827, 3172103, XM_011533236.1:c.-353C>A, 1056827, NC_000002.12:g.38075034C>A, NP_000095.2:p.Ala119Ser, NC_000002.11:g.38302177C>A, NG_008386.2:g.6068G>T, NP_000095.2:p.Ala119=, NC_000002.11:g.38302177=, NM_000104.3:c.355G>T +PA166155621 rs1056836 PA27094 CYP1B1 NC_000002.12:38071060 12 3 0 0 0 NC_000002.11:g.38298203C>G, rs1056836, 3731848, 1056836, NC_000002.12:g.38071060=, rs3731848, 17405323, 59494749, NG_008386.2:g.10042C=, NP_000095.2:p.Leu432Val, rs52802961, NP_000095.2:p.Leu432=, NG_008386.2:g.10042=, NG_008386.2:g.10042C>G, 52802961, NM_000104.3:c.1294C=, rs17405323, rs59494749, NM_000104.3:c.1294C>G, NC_000002.12:g.38071060G>C, NC_000002.12:g.38071060G= +PA166264581 rs1056837 PA27094 CYP1B1 NC_000002.12:38071007 1 0 0 0 0 1056837, 58481320, NC_000002.12:g.38071007A>T, rs1056837, 3731849, 117635929, NC_000002.11:g.38298150=, NP_000095.2:p.Asp449Glu, NC_000002.11:g.38298150A>T, NC_000002.12:g.38071007=, NG_008386.2:g.10095=, NP_000095.2:p.Asp449=, NC_000002.12:g.38071007A>G, 17333397, 386514420, NG_008386.2:g.10095T>C, NC_000002.11:g.38298150A>G, NG_008386.2:g.10095T>A +PA166170237 rs1056854 PA162391519 HNRNPUL1 NC_000019.10:41304090 1 1 0 0 0 NP_008971.2:p.Pro697=, 17845823, rs1056854, 1056854, NC_000019.9:g.41809995A>G, 3197471, NC_000019.9:g.41809995=, 17858790, NC_000019.10:g.41304090=, NC_000019.10:g.41304090A>G +PA166203405 rs1056890 PA31600,PA33854 NFKB2,PSD NC_000010.11:102403013 1 0 0 0 0 NC_000010.10:g.104162770G>A, NC_000010.11:g.102403013G>C, NG_033874.2:g.13904G>C, NC_000010.11:g.102403013G>A, NG_033874.2:g.13904G>A, 59435648, NG_033874.1:g.13904=, rs1056890, 1056890, NC_000010.10:g.104162770=, NG_033874.2:g.13904=, NC_000010.11:g.102403013=, NG_033874.1:g.13904G>A, NC_000010.10:g.104162770G>C, NG_033874.1:g.13904G>C +PA166155989 rs1056892 PA26122 CBR3 NC_000021.9:36146408 9 1 0 0 0 52816011, NM_001236.3:c.730G>A, 3171445, rs3171445, NC_000021.9:g.36146408G>A, NC_000021.8:g.37518706=, NP_001227.1:p.Val244=, NC_000021.8:g.37518706G>A, NR_038893.1:n.93-53C>T, rs58776388, NR_038894.1:n.93-53C>T, rs1056892, NP_001227.1:p.Val244Met, 1056892, rs52816011, NC_000021.9:g.36146408=, NG_052818.1:g.16508=, 58776388, NR_038892.1:n.93-53C>T, NG_052818.1:g.16508G>A +PA166238103 rs1057079 PA28360 MTOR NC_000001.11:11145001 2 0 0 0 0 17848544, 1148486, NC_000001.10:g.11205058=, 3730387, NG_033239.1:g.122551=, rs1057079, 1057079, NP_004949.1:p.Ala1577=, NG_033239.1:g.122551G>A, NC_000001.10:g.11205058C>T, 56925754, 9430378, NC_000001.11:g.11145001=, 17451717, 386514433, NC_000001.11:g.11145001C>T, 17229214 +PA166157552 rs1057126 PA17 NAT1 NC_000008.11:18223135 5 0 0 0 0 NM_001291962.1:c.*215A>T, XM_006716410.2:c.*215A>T, NG_012245.2:g.57674=, NC_000008.10:g.18080644=, XM_011544687.1:c.*215A>T, NM_000662.7:c.*215A>T, rs80069221, NM_001160174.2:c.*215A>T, 58827020, rs8190860, 8190860, NM_001160175.3:c.*215A>T, NM_001160176.3:c.*215A>T, XM_011544688.1:c.*215A>T, NC_000008.11:g.18223135A>T, XM_011544689.1:c.*215A>T, NC_000008.10:g.18080644A>T, rs58827020, NG_012245.2:g.57674A>T, 1057126, rs1057126, NM_001160173.3:c.*215A>T, NC_000008.11:g.18223135A>C, rs3197751, NC_000008.11:g.18223135=, 3197751, XM_005273679.1:c.*215A>T, NM_001160172.3:c.*215A>T, NM_001160170.3:c.*215A>T, XM_005273677.1:c.*215A>T, NG_012245.2:g.57674A>C, XM_005273678.1:c.*215A>T, NC_000008.10:g.18080644A>C, NM_001160171.3:c.*215A>T, NM_001160179.2:c.*215A>T, 80069221 +PA166155006 rs1057451 PA233,PA31332,PA142672260 LRP1,MVP,PAGR1 NC_000016.10:29822167 1 0 0 0 0 rs3169550, 3169550, NM_005115.4:c.-36+1657G>T, rs74249938, NC_000016.10:g.29822167=, rs59001958, NC_000016.10:g.29822167G>T, NC_000016.9:g.29833488=, 59001958, 74249938, rs386514440, rs1057451, 1057451, NM_017458.3:c.-77+1657G>T, NC_000016.9:g.29833488G>T, 386514440, NM_024516.3:c.*2413G>T, XM_005255730.1:c.-77+1657G>T +PA166317621 rs1057519045 PA28128 FGFR2 NC_000010.11:121498522 0 0 0 0 1 1057519045, NG_012449.2:g.104937A>G, NP_000132.3:p.Asn549Asp, NC_000010.10:g.123258036T>G, NC_000010.10:g.123258036=, NC_000010.10:g.123258036T>C, NG_012449.2:g.104937=, NP_000132.3:p.Asn549His, NC_000010.11:g.121498522T>C, NP_000132.3:p.Asn549=, NC_000010.11:g.121498522T>G, rs1057519045, NC_000010.11:g.121498522=, FGFR2 N550H, NG_012449.2:g.104937A>C +PA166317622 rs1057519797 PA28128 FGFR2 NC_000010.11:121496705 0 0 0 0 1 NC_000010.10:g.123256219=, NG_012449.2:g.106754=, NC_000010.11:g.121496705C>T, 1057519797, NG_012449.2:g.106754G>A, NC_000010.10:g.123256219C>T, NG_012449.2:g.106754G>C, rs1057519797, FGFR2 V565I, NP_000132.3:p.Val564Leu, NC_000010.11:g.121496705C>G, NP_000132.3:p.Val564Ile, NP_000132.3:p.Val564=, NC_000010.11:g.121496705=, NC_000010.10:g.123256219C>G +PA166157286 rs1057868 PA33532 POR NC_000007.14:75985688 54 8 0 0 0 NC_000007.14:g.75985688C>T, NP_000932.3:p.Ala503=, XP_005277658.1:p.Ala402Val, 17846082, NM_000941.2:c.1508C>T, rs17840495, NG_008930.1:g.75587C>T, NC_000007.14:g.75985688=, XM_005277601.1:c.1205C>T, XP_005250517.1:p.Ala402Val, NW_003871064.1:g.3514924C>T, rs17846082, 17859083, XM_005250459.1:c.1508C>T, 17840495, XM_005277602.1:c.932C>T, NP_000932.3:p.Ala503Val, XP_005250516.1:p.Ala503Val, XM_005277600.1:c.1508C>T, POR*28, rs17859083, XP_005277657.1:p.Ala503Val, 57699079, rs1057868, NC_000007.13:g.75615006C>T, 1057868, NC_000007.13:g.75615006=, XM_005250460.1:c.1205C>T, rs3198400, 3198400, NG_008930.1:g.75587=, XP_005277659.1:p.Ala311Val, XM_005250461.1:c.932C>T, XP_005250518.1:p.Ala311Val, rs57699079 +PA166153959 rs1057910 PA126 CYP2C9 NC_000010.11:94981296 617 44 41 0 0 NC_000010.11:g.94981296A>G, XP_005269632.1:p.Ile359Leu, rs61212474, NC_000010.11:g.94981296A>C, NM_000771.3:c.1075A=, NP_000762.2:p.Ile359=, rs1057910, rs3198471, 1057910, 3198471, NC_000010.10:g.96741053=, NC_000010.11:g.94981296=, NG_008385.2:g.48139A>G, NG_008385.2:g.48139A>C, NC_000010.10:g.96741053A=, NM_000771.3:c.1075A>C, NG_008385.1:g.47639=, XP_005269632.1:p.Ile359=, NG_008385.1:g.47639A=, NC_000010.10:g.96741053A>G, NC_000010.11:g.94981296A=, NC_000010.10:g.96741053A>C, XM_005269575.1:c.1075A>C, NG_008385.1:g.47639A>G, 17847042, NP_000762.2:p.Ile359Leu, XM_005269575.1:c.1075A=, NG_008385.1:g.47639A>C, rs17847042, 61212474, NP_000762.2:p.Ile359Val, NG_008385.2:g.48139= +PA166153960 rs1057911 PA126 CYP2C9 NC_000010.11:94988980 1 0 0 0 0 NC_000010.10:g.96748737A>T, NG_008385.2:g.55823A>T, rs17110377, NC_000010.11:g.94988980=, NG_008385.1:g.55323A>T, 1057911, NG_008385.2:g.55823=, rs1057911, rs3198472, XM_005269575.1:c.1275-486A>T, NC_000010.10:g.96748737=, NC_000010.11:g.94988980A>T, NP_000762.2:p.Gly475=, 3198472, rs56724540, 17847030, rs17847030, NG_008385.1:g.55323=, NM_000771.3:c.1425A>T, 56724540, 17110377 +PA166156061 rs1058164 PA128 CYP2D6 NC_000022.11:42129130 493 64 64 0 0 NM_001025161.2:c.353-186C>G, NM_001025161.2:c.353-186G>C, XM_011529970.1:c.353-186C>G, XM_011529970.1:c.353-186G>C, XM_011529968.1:c.408G=, XM_011529972.1:c.408G=, NG_008376.3:g.5862=, NC_000022.10:g.42525132G>C, NG_008376.3:g.5862G>C, XM_011547541.1:c.109C>G, XP_011546053.1:p.Val64=, NC_000022.11:g.42129130=, 1058164, rs1058164, XM_011529969.1:c.265G=, XM_011547751.1:c.192C>G, NC_000022.11:g.42129130C=, XM_011547541.1:c.109C=, XP_011546052.1:p.Leu89=, NG_008376.4:g.6681G>C, XP_005278411.1:p.Leu37Val, XP_011528273.1:p.Val89Leu, 28371708, rs3892096, NW_009646208.1:g.14696G>C, XP_011547121.1:p.Leu37=, 61736911, XM_005278354.1:c.109C>G, XP_011546052.1:p.Leu89Val, NC_000022.11:g.42129130C>G, XP_011528271.1:p.Val89Leu, XP_011528268.1:p.Val136=, XP_011528269.1:p.Val136=, XM_011547750.1:c.265C>G, XM_011548819.1:c.109C>G, NG_008376.4:g.6681=, XM_011529971.1:c.265G>C, XM_011548819.1:c.109C=, XP_011528271.1:p.Val89=, XM_005278354.3:c.109C=, NP_000097.3:p.Val136=, NW_004504305.1:g.51457G>C, XR_952745.1:n.1565C=, XM_005278353.1:c.363-187C>G, XP_011528270.1:p.Val136=, XP_011528273.1:p.Val89=, NT_187682.1:g.51471G>C, XM_011529969.1:c.265G>C, XM_011529968.1:c.408G>C, XM_011529972.1:c.408G>C, XM_011529971.1:c.265G=, XP_011528274.1:p.Val136=, XM_011547756.1:c.-905C>G, XM_011547756.1:c.-905G>C, XP_011545843.1:p.Leu37=, NG_008376.3:g.5862G=, XM_011529966.1:c.408G=, XR_430455.2:n.-741C>G, XR_430455.2:n.-741G>C, NM_000106.5:c.408G>C, NW_009646208.1:g.14696G=, 3892096, XP_011547121.1:p.Leu37Val, NW_004504305.1:g.51457G=, XM_011547751.1:c.192C=, XM_011529966.1:c.408G>C, NT_187682.1:g.51471G=, XM_005278354.3:c.109C>G, rs28371708, XM_011529967.1:c.408G=, XR_952745.1:n.1565C>G, XP_011545843.1:p.Leu37Val, XM_011529967.1:c.408G>C, NM_000106.5:c.408G=, XP_005278411.1:p.Leu37=, XM_011547750.1:c.265C= +PA166182986 rs1058172 PA128 CYP2D6 NC_000022.11:42127526 442 76 76 0 0 NG_008376.3:g.7466=, NP_000097.3:p.Arg365=, NP_000097.3:p.Arg365His, NC_000022.10:g.42523528=, 1974456, NC_000022.10:g.42523528C>G, NG_008376.3:g.7466G>C, NP_000097.3:p.Arg365Pro, NG_008376.3:g.7466G>A, NG_008376.4:g.8285G>C, NC_000022.11:g.42127526C>T, NG_008376.4:g.8285G>A, 17002850, 4134603, 1058172, rs1058172, NC_000022.10:g.42523528C>T, NG_008376.4:g.8285=, NC_000022.11:g.42127526=, NC_000022.11:g.42127526C>G +PA166170196 rs1058808 PA27844 ERBB2 NC_000017.11:39727784 1 0 0 0 0 NP_004439.2:p.Pro1170Thr, 1058808, NG_007503.1:g.44645=, rs1058808, NP_004439.2:p.Pro1170Ser, NG_007503.1:g.44645C>T, NC_000017.11:g.39727784=, NP_004439.2:p.Pro1170Ala, 3199451, NC_000017.10:g.37884037C>G, NC_000017.11:g.39727784C>T, NG_007503.1:g.44645C>G, NC_000017.11:g.39727784C>A, NC_000017.10:g.37884037C>A, NC_000017.11:g.39727784C>G, NC_000017.10:g.37884037=, NC_000017.10:g.37884037C>T, NG_007503.1:g.44645C>A, 61552325, NP_004439.2:p.Pro1170= +PA166153961 rs1058930 PA125 CYP2C8 NC_000010.11:95058362 20 4 4 0 0 XR_945610.1:n.888C>G, 56929063, rs56489507, rs17420739, rs56929063, NC_000010.11:g.95058362G>C, 56489507, NM_001198855.1:c.582C>G, XR_246073.1:n.888C>G, NG_007972.1:g.16136C>T, NC_000010.11:g.95058362G>A, NP_001185784.1:p.Ile194Met, NG_007972.1:g.16136C>G, NM_001198853.1:c.582C>G, NC_000010.10:g.96818119=, NM_001198854.1:c.486C>G, NP_001185782.1:p.Ile194Met, 1058930, rs1058930, 3199599, rs3199599, NP_000761.3:p.Ile264=, NC_000010.10:g.96818119G>C, 17420739, NP_000761.3:p.Ile264Met, NC_000010.11:g.95058362=, NM_000770.3:c.792C>G, NP_001185783.1:p.Ile162Met, NG_007972.1:g.16136=, NC_000010.10:g.96818119G>A +PA166201542 rs1058932 PA125 CYP2C8 NC_000010.11:95037104 2 1 0 0 0 NG_007972.1:g.37394C>G, 3199602, 61609236, NC_000010.10:g.96796861G>A, NG_007972.1:g.37394=, NC_000010.10:g.96796861G>C, 1058932, rs1058932, 3740506, NC_000010.11:g.95037104G>C, NC_000010.10:g.96796861=, NC_000010.11:g.95037104G>A, NG_007972.1:g.37394C>T, NC_000010.11:g.95037104= +PA166155914 rs1059150 PA25128 ATP5F1E NC_000020.11:59030384 1 1 0 0 0 NG_031871.1:g.6984=, NR_037930.1:n.523A>C, NG_031871.2:g.6984=, NC_000020.10:g.57605439T>G, rs1059150, NC_000020.11:g.59030384=, 3199795, NR_037929.1:n.782A>C, rs3199795, NP_008817.1:p.Ala26=, NG_031871.2:g.6984A>G, NC_000020.11:g.59030384T>G, NG_031871.1:g.6984A>G, NG_031871.1:g.6984A>C, 1059150, NC_000020.11:g.59030384T>C, NM_006886.3:c.78A>C, NC_000020.10:g.57605439T>C, NG_031871.2:g.6984A>C, NC_000020.10:g.57605439= +PA166156974 rs1059288 PA34120,PA36331 RGL2,TAPBP NC_000006.12:33299895 1 1 0 0 0 XM_011547265.1:c.-606T>C, XM_005272848.1:c.-1067C>T, XM_011514784.1:c.-2055C>T, XM_011547670.1:c.-2055C>T, rs3173276, 3173276, NT_167247.2:g.4735831A>G, NT_167247.2:g.4735831A=, NT_167248.2:g.4494316G=, NG_009876.1:g.19318=, NT_167245.1:g.4548998G=, XM_005249257.1:c.-916T>C, NT_167247.1:g.4741416A>G, NT_167247.1:g.4741416A=, 116575952, NM_001243738.1:c.-1116C>T, NT_167245.1:g.4548998G>A, 1059288, NC_000006.11:g.33267672=, XM_011547668.1:c.-606C>T, XM_011548256.1:c.-606C>T, NM_004761.4:c.-1067T>C, XM_011548069.1:c.-2055C>T, XM_011548258.1:c.-2055T>C, rs141981667, XM_005275005.1:c.-916T>C, XM_011514784.1:c.-2055T>C, NC_000006.11:g.33267672A>G, NT_113891.2:g.4711486G>A, XM_005275006.1:c.-1116C>T, NM_003190.4:c.*1865T=, NG_009876.1:g.19318T=, XM_005249257.1:c.-916C>T, XM_005275273.1:c.-1067T>C, XM_005249258.1:c.-1116T>C, XM_005275274.1:c.-916C>T, XM_005272850.1:c.-1116T>C, rs117271736, 141981667, XM_005275434.1:c.-916T>C, NM_001243738.1:c.-1116T>C, XM_005275275.1:c.-1116T>C, rs116575952, NC_000006.11:g.33267672A=, NT_167248.1:g.4499912G=, XM_011548256.1:c.-606T>C, NT_167245.2:g.4543413G>A, XM_011548069.1:c.-2055T>C, NT_113891.3:g.4711380G>A, XM_005249256.1:c.-1067C>T, XM_005272849.1:c.-916C>T, XM_005275004.1:c.-1067C>T, XM_005275005.1:c.-916C>T, NM_172209.2:c.*1865T>C, rs17215259, XM_011548067.1:c.-606T>C, XM_005275006.1:c.-1116T>C, NT_113891.2:g.4711486G=, NT_167245.2:g.4543413G=, XM_005275273.1:c.-1067C>T, XM_005275433.1:c.-1067T>C, XM_005249258.1:c.-1116C>T, XM_011547267.1:c.-2055T>C, 60955773, NM_172209.2:c.*1865T=, XM_011514782.1:c.-606T>C, XM_005272850.1:c.-1116C>T, XM_005275274.1:c.-916T>C, NT_113891.3:g.4711380G=, XM_005275434.1:c.-916C>T, XM_005275275.1:c.-1116C>T, NG_009876.1:g.19318T>C, NT_167248.2:g.4494316G>A, XM_005249256.1:c.-1067T>C, XM_005272849.1:c.-916T>C, XM_005275004.1:c.-1067T>C, NC_000006.12:g.33299895A=, XM_005275435.1:c.-1116C>T, 117271736, XM_011547265.1:c.-606C>T, NM_003190.4:c.*1865T>C, XM_011547670.1:c.-2055T>C, 17215259, XM_005272848.1:c.-1067T>C, rs1059288, XM_011548067.1:c.-606C>T, NC_000006.12:g.33299895A>G, XM_005275433.1:c.-1067C>T, NT_167248.1:g.4499912G>A, XM_011547267.1:c.-2055C>T, XM_011514782.1:c.-606C>T, XM_011547668.1:c.-606T>C, rs60955773, NC_000006.12:g.33299895=, NM_004761.4:c.-1067C>T, XM_011548258.1:c.-2055C>T, XM_005275435.1:c.-1116T>C +PA166155007 rs1059491 PA166123718,PA341 NPIPB8,SULT1A2 NC_000016.10:28592334 1 0 0 0 0 NC_000016.9:g.28603655T>G, XP_006721140.1:p.Asn202Thr, NG_032570.1:g.9737=, XM_006721077.2:c.605A>C, 3174702, XM_011545922.1:c.704A>C, XP_006721139.1:p.Asn235Thr, rs3174702, NP_001045.2:p.Asn235Thr, NP_001045.1:p.Asn235Thr, XP_005255576.1:p.Asn235Thr, NM_177528.2:c.704A>C, NG_032570.1:g.9737A>C, NC_000016.10:g.28592334=, XM_011545923.1:c.704A>C, XP_011544226.1:p.Asn161Thr, NP_803564.1:p.Asn235Thr, NM_001310136.1:c.121-125432A>C, rs16940488, 1059491, NM_001054.3:c.704A>C, XM_011545924.1:c.482A>C, XP_011544225.1:p.Asn235Thr, NC_000016.9:g.28603655=, NP_001045.2:p.Asn235=, XR_950836.1:n.1453A>C, XM_006721076.2:c.704A>C, XM_005255519.1:c.704A>C, 16940488, XM_005255520.1:c.482A>C, rs1059491, NC_000016.10:g.28592334T>G, XP_005255577.1:p.Asn161Thr, XP_011544224.1:p.Asn235Thr +PA166224541 rs1059513 PA31432,PA339 NAB2,STAT6 NC_000012.12:57095926 1 1 0 0 0 386514503, NG_021272.1:g.20488=, NC_000012.11:g.57489709T>C, NG_021272.1:g.20488A>G, NC_000012.12:g.57095926T>C, 1059513, 56970011, 17546997, rs1059513, NG_021272.2:g.41214A>G, NC_000012.12:g.57095926=, NG_021272.2:g.41214=, NC_000012.11:g.57489709=, 3200213 +PA166169893 rs1059698 NC_000007.14:130944335 2 1 0 0 0 3175128, rs1059698, 11557801, NC_000007.13:g.130629094=, NC_000007.13:g.130629094A>C, NC_000007.14:g.130944335=, NC_000007.14:g.130944335A>C, 1059698, 58919373 +PA166154694 rs1059751 PA397 ABCC4 NC_000013.11:95020696 4 1 0 0 0 NG_050651.1:g.285751T>A, 57737346, NC_000013.11:g.95020696A>T, NG_050651.1:g.285751T>C, NC_000013.11:g.95020696=, NG_050651.1:g.285751T>G, XM_005254025.2:c.*879T>C, 1059751, NM_001301829.1:c.*879T>C, rs17234901, NC_000013.11:g.95020696A>C, NG_050651.1:g.285751=, XM_005254027.1:c.*879T>C, rs57737346, NC_000013.11:g.95020696A>G, XM_011521047.1:c.*879T>C, NC_000013.10:g.95672950A>G, 17234901, XM_005254026.1:c.*879T>C, XM_005254025.1:c.*879T>C, rs1059751, NC_000013.10:g.95672950A>C, NM_005845.4:c.*879T>C, NC_000013.10:g.95672950A>T, rs3168715, 3168715, XM_006719914.1:c.*879T>C, NC_000013.10:g.95672950= +PA166153616 rs1059778 PA142672519 IBA57 NC_000001.11:228184361 1 0 0 0 0 NC_000001.10:g.228372062C>T, NC_000001.10:g.228372062=, NC_000001.11:g.228184361C>G, 3200591, rs3200591, 1059778, NC_000001.11:g.228184361=, NC_000001.11:g.228184361C>T, rs1059778, 60458914, NC_000001.10:g.228372062C>G, XM_006711753.2:c.679+9332C>T, rs60458914 +PA166156752 rs1059829 PA36055 SPARC NC_000005.10:151662468 2 0 0 0 0 3210713, rs3210713, 1059829, NC_000005.10:g.151662468=, NG_042174.1:g.29587C>T, rs59831535, 17718221, NG_042174.1:g.29587=, NM_001309444.1:c.*987C>T, rs17718221, 59831535, NC_000005.9:g.151042029G>A, rs1804457, NM_003118.3:c.*1103C>T, 1804457, 3822701, rs3822701, NM_001309443.1:c.*1103C>T, NC_000005.9:g.151042029=, NC_000005.10:g.151662468G>A, rs1059829 +PA166155362 rs1060463 PA27120 CYP4F11 NC_000019.10:15914366 2 0 0 0 0 rs60995218, 52825646, XP_011526458.1:p.Asp428Asn, XM_011528156.1:c.1282G>A, rs52825646, NC_000019.10:g.15914366C>T, NP_067010.3:p.Asp446His, 3201353, NM_001128932.1:c.1336G>A, rs3201353, NP_067010.3:p.Asp446=, NC_000019.10:g.15914366C>G, NC_000019.10:g.15914366=, NC_000019.9:g.16025176C>G, NG_008335.1:g.25501=, NM_021187.3:c.1336G>A, NC_000019.9:g.16025176=, 1060463, NG_008335.1:g.25501G>C, NC_000019.9:g.16025176C>T, 60995218, NG_008335.1:g.25501G>A, NP_067010.3:p.Asp446Asn, rs1060463, NP_001122404.1:p.Asp446Asn +PA166165118 rs1060467 PA27120 CYP4F11 NC_000019.10:15913728 3 1 0 0 0 NC_000019.9:g.16024538=, rs1060467, NC_000019.10:g.15913728A>G, 1060467, NG_008335.1:g.26139T>C, 17683135, NC_000019.10:g.15913728=, 57488186, NG_008335.1:g.26139=, 3201357, NC_000019.9:g.16024538A>G +PA166154857 rs1060896 PA386 SLC28A2 NC_000015.10:45262069 4 1 0 0 0 XR_243147.1:n.32-6071G>T, NP_004203.2:p.Ser75=, XP_011520502.1:p.Ser75Arg, XP_011520500.1:p.Ser75Arg, XP_011520501.1:p.Ser75Arg, NC_000015.10:g.45262069C>A, rs52828213, XM_011522199.1:c.225C>A, rs1060896, rs58568974, NC_000015.9:g.45554267=, XM_011522200.1:c.225C>A, 1060896, rs17532209, XM_011522201.1:c.225C>A, NM_004212.3:c.225C>A, NP_004203.2:p.Ser75Arg, 58568974, XM_011522198.1:c.225C>A, NC_000015.9:g.45554267C>A, 17215647, rs17215647, 17532209, NC_000015.10:g.45262069=, 52828213, NR_120335.1:n.27-6071G>T, XP_011520503.1:p.Ser75Arg +PA166156501 rs1061018 PA390 ABCG2 NC_000004.12:88121701 1 1 0 0 0 XM_005263354.2:c.623T>C, XM_005263356.1:c.623T>C, NM_001257386.1:c.623T>C, XP_005263413.1:p.Phe208Ser, NC_000004.12:g.88121701=, XP_005263412.1:p.Phe208Ser, NC_000004.11:g.89042853=, NG_032067.2:g.114622T>C, NM_004827.2:c.623T>C, XM_005263356.2:c.623T>C, XM_005263355.1:c.623T>C, XM_011532420.1:c.623T>C, rs386514545, NC_000004.12:g.88121701A>G, XP_011530722.1:p.Phe208Ser, NP_004818.2:p.Phe208=, NG_032067.2:g.114622=, NP_001244315.1:p.Phe208Ser, XP_005263411.1:p.Phe208Ser, 1061018, rs1061018, NP_004818.2:p.Phe208Ser, XM_005263354.1:c.623T>C, NC_000004.11:g.89042853A>G, XM_005263355.2:c.623T>C, 386514545 +PA166176963 rs1061115 PA35101 HPS1 NC_000010.11:98417292 1 1 0 0 0 3830016, NC_000010.11:g.98417292G>C, NG_009646.1:g.34656C>T, NC_000010.10:g.100177049G>T, 61009156, NC_000010.10:g.100177049=, rs1061115, NC_000010.11:g.98417292G>T, 1061115, 3167854, NG_009646.1:g.34656C>G, NC_000010.10:g.100177049G>C, NC_000010.10:g.100177049G>A, NG_009646.1:g.34656=, NC_000010.11:g.98417292=, NC_000010.11:g.98417292G>A, NG_009646.1:g.34656C>A +PA166153617 rs1061170 PA29261 CFH NC_000001.11:196690107 15 3 0 0 0 NG_007259.1:g.43097C=, NC_000001.11:g.196690107C>G, XM_005245111.1:c.1204C>T, NC_000001.10:g.196659237C=, NC_000001.11:g.196690107C>T, NP_000177.2:p.His402Tyr, NG_007259.1:g.43097=, XP_005245168.1:p.His402Tyr, NG_007259.1:g.43097C>G, NC_000001.11:g.196690107=, NC_000001.10:g.196659237C>G, NG_007259.1:g.43097C>A, NC_000001.11:g.196690107C=, NP_000177.2:p.His402Asp, NC_000001.10:g.196659237C>T, XM_005245112.1:c.1204C=, 60173482, NC_000001.11:g.196690107C>A, NP_000177.2:p.His402Asn, NM_000186.3:c.1204C=, XP_005245169.1:p.His402=, XM_005245111.1:c.1204C=, XP_005245169.1:p.His402Tyr, rs1061170, NG_007259.1:g.43097C>T, NM_001014975.2:c.1204C=, rs60173482, NP_001014975.1:p.His402Tyr, NC_000001.10:g.196659237C>A, NP_001014975.1:p.His402=, NM_000186.3:c.1204C>T, NC_000001.10:g.196659237=, NM_001014975.2:c.1204C>T, 1061170, XM_005245112.1:c.1204C>T, XP_005245168.1:p.His402=, NP_000177.2:p.His402= +PA166156975 rs1061235 PA35055 HLA-A NC_000006.12:29945521 1 0 0 0 0 NM_001242758.1:c.*66A>T, NT_167249.1:g.1242649A>T, NC_000006.11:g.29913298=, rs114782388, 114782388, NT_167246.2:g.1200079A>T, XM_005275330.1:c.*66A>T, NT_167245.2:g.1201089A>T, NM_002116.7:c.*66A>T, 3823348, rs3823348, NT_167246.1:g.1205699A>T, rs3173409, 3173409, NC_000006.12:g.29945521A>T, 41559417, NT_167245.1:g.1206674A>T, NT_167248.2:g.1200495A>T, XM_005275331.2:c.*148A>T, XR_430999.1:n.1594A>T, XM_005275329.1:c.*66A>T, XM_011548124.1:c.*66A>T, NT_167244.2:g.1203269A>T, NT_167249.2:g.1243351A>T, rs41559417, NW_003871063.1:g.179446A>T, 117115314, NC_000006.12:g.29945521=, NT_167248.1:g.1206091A>T, rs117115314, XM_005275331.1:c.*148A>T, rs1061235, 1061235, NG_029217.2:g.8057A>T, NG_029217.2:g.8057=, NT_167244.1:g.1153185A>T, NC_000006.11:g.29913298A>T +PA166154695 rs1061472 PA73 ATP7B NC_000013.11:51950352 3 1 0 0 0 XM_005266423.1:c.2399A>G, NM_001243182.1:c.2162A>G, NC_000013.10:g.52524488T>G, 52815103, XP_005266488.1:p.Lys820Arg, XM_011535121.1:c.2495A>G, 59677013, XM_006719838.1:c.311A>G, XM_005266424.1:c.2399A>G, XP_006719900.1:p.Lys800Arg, NP_001005918.1:p.Lys670Arg, NP_000044.2:p.Lys832Thr, XM_005266428.1:c.2243A>G, rs3202569, 3202569, XM_005266432.1:c.2009A>G, NP_000044.2:p.Lys832Arg, XM_005266433.1:c.1286-191A>G, XP_005266486.1:p.Lys832Arg, XM_005266427.2:c.2261A>G, rs17435026, XM_005266429.1:c.2495A>G, 117058075, XM_005266426.1:c.2495A>G, NC_000013.11:g.51950352T>G, XP_011533423.1:p.Lys832Arg, rs386514561, NC_000013.11:g.51950352T>C, XP_011533424.1:p.Lys388Arg, NG_008806.1:g.66143=, XP_005266491.1:p.Lys260Arg, XP_005266480.1:p.Lys800Arg, XM_005266424.3:c.2399A>G, XP_005266485.1:p.Lys748Arg, 1061472, XM_005266431.2:c.2459A>G, XM_005266427.1:c.2261A>G, XR_941601.1:n.2714A>G, XR_941602.1:n.2714A>G, XM_011535117.1:c.2399A>G, XM_005266425.1:c.2351A>G, XP_005266487.1:p.Lys832Arg, XR_941603.1:n.2714A>G, XM_006719837.2:c.2399A>G, XM_005266430.1:c.2495A>G, XM_011535122.1:c.1163A>G, XP_005266484.1:p.Lys754Arg, XR_941604.1:n.2714A>G, NG_008806.1:g.66143A>C, NM_001005918.2:c.2009A>G, XM_005266434.1:c.779A>G, XP_005266481.1:p.Lys800Arg, rs52815103, NG_008806.1:g.66143A>G, XM_006719839.1:c.311A>G, XP_005266482.1:p.Lys784Arg, NC_000013.10:g.52524488=, XP_011533422.1:p.Lys694Arg, NC_000013.11:g.51950352=, XP_006719902.1:p.Lys104Arg, XP_011533419.1:p.Lys800Arg, XM_005266431.1:c.2459A>G, XM_011535120.1:c.2081A>G, XP_011533421.1:p.Lys832Arg, NP_001230111.1:p.Lys721Arg, XM_005266423.2:c.2399A>G, XM_005266430.3:c.2495A>G, NP_000044.2:p.Lys832=, XM_011535118.1:c.2495A>G, XP_011533420.1:p.Lys832Arg, XP_005266483.1:p.Lys832Arg, XP_005266489.1:p.Lys670Arg, 17435026, XM_005266432.2:c.2009A>G, 386514561, XM_011535119.1:c.2495A>G, XR_245388.1:n.2714A>G, rs59677013, XP_006719901.1:p.Lys104Arg, rs117058075, rs1061472, NC_000013.10:g.52524488T>C, NM_000053.3:c.2495A>G +PA166153618 rs1061622 PA36610 TNFRSF1B NC_000001.11:12192898 6 2 0 0 0 XM_011542061.1:c.587T>G, 52797629, XP_011540363.1:p.Met196Arg, XP_011540365.1:p.Met196Arg, 60195947, rs1061622, NM_001066.2:c.587T>G, XM_011542062.1:c.566T>G, rs17883437, 1681698, NC_000001.10:g.12252955T>G, NP_001057.1:p.Met196Arg, XP_011540362.1:p.Met196Arg, rs1681698, XR_244793.1:n.692T>G, 1061622, rs17037789, XP_011540364.1:p.Met189Arg, NC_000001.10:g.12252955=, NP_001057.1:p.Met196=, XM_011542063.1:c.587T>G, rs2228492, 2228492, 17883437, 17037789, NG_029791.1:g.30896T>G, NC_000001.11:g.12192898=, rs13306722, NC_000001.11:g.12192898T>G, NG_029791.1:g.30896=, rs52797629, XM_011542060.1:c.587T>G, rs60195947, 13306722 +PA166153619 rs1061624 PA36610 TNFRSF1B NC_000001.11:12207208 2 0 0 0 0 XM_011542060.1:c.*188A>G, 57032240, XM_011542062.1:c.*188A>G, XM_011542063.1:c.*188A>G, NM_001066.2:c.*188A>G, NG_029791.1:g.45206A>T, NC_000001.10:g.12267265A>G, NC_000001.11:g.12207208A>G, NG_029791.1:g.45206=, rs3737957, 3737957, NC_000001.11:g.12207208A>T, rs57032240, 1061624, rs1061624, NC_000001.11:g.12207208=, NC_000001.10:g.12267265=, NC_000001.10:g.12267265A>T, NG_029791.1:g.45206A>G, XM_011542061.1:c.*188A>G, XR_244793.1:n.1566A>G +PA166153620 rs1061631 PA36610 TNFRSF1B NC_000001.11:12208442 1 1 0 0 0 XM_011542060.1:c.*1422G>A, XM_011542063.1:c.*1422G>A, XR_244793.1:n.2800G>A, 17884610, NG_029791.1:g.46440=, 61496814, NC_000001.10:g.12268499=, NG_029791.1:g.46440G>A, 1061631, rs3202719, 3202719, rs1061631, NC_000001.10:g.12268499G>A, rs17884610, NC_000001.11:g.12208442G>A, XM_011542062.1:c.*1422G>A, rs61496814, NM_001066.2:c.*1422G>A, XM_011542061.1:c.*1422G>A, NC_000001.11:g.12208442= +PA166176957 rs1061735 PA165617947 ESYT2 NC_000007.14:158733764 1 1 0 0 0 NC_000007.13:g.158526455G>T, NC_000007.14:g.158733764G>T, 11547197, 60413288, NC_000007.13:g.158526455=, NC_000007.13:g.158526455G>C, NC_000007.13:g.158526455G>A, NC_000007.14:g.158733764G>A, NC_000007.14:g.158733764G>C, rs1061735, 1061735, 17837840, 3173704, NC_000007.14:g.158733764= +PA166160428 rs1061781 PA25224 B4GALT2 NC_000001.11:43985562 2 1 0 0 0 17857677, NC_000001.11:g.43985562C>T, NC_000001.11:g.43985562C>A, NC_000001.10:g.44451234=, NC_000001.10:g.44451234C>T, NP_003771.1:p.Ile303Met, NP_003771.1:p.Ile303=, 17844942, NC_000001.10:g.44451234C>G, NC_000001.11:g.43985562C>G, NC_000001.11:g.43985562=, 1061781, 3170759, rs1061781, NC_000001.10:g.44451234C>A +PA166154858 rs1062033 PA27091 CYP19A1 NC_000015.10:51255741 1 1 0 0 0 NG_007982.1:g.87858=, XM_005254191.1:c.-38-12791G>C, NC_000015.10:g.51255741=, 57401428, 17647575, NC_000015.9:g.51547938=, 60544338, NC_000015.9:g.51547938C>G, NM_000103.3:c.-38-12791G>C, XR_932222.1:n.99-22242C>G, NC_000015.10:g.51255741C>G, NM_031226.2:c.-38-12791G>C, rs57401428, 56591429, 3169029, rs3169029, rs56591429, rs60544338, rs1062033, NG_007982.1:g.87858G>C, rs17647575, 1062033 +PA166177341 rs1062219 PA28587 GATA4 NC_000008.11:11758901 1 0 0 0 0 NG_008177.2:g.86983=, rs1062219, 1062219, NC_000008.11:g.11758901=, NC_000008.10:g.11616410C>T, 58222959, NC_000008.11:g.11758901C>T, NC_000008.10:g.11616410=, NG_008177.2:g.86983C>T +PA166171112 rs1062372 PA165617609,PA33448 AIMP2,PMS2 NC_000007.14:6009342 1 0 0 0 0 NC_000007.14:g.6009342C>A, NG_050738.1:g.5092C>G, NC_000007.13:g.6048973=, NC_000007.14:g.6009342C>G, NC_000007.13:g.6048973C>T, NC_000007.14:g.6009342=, NG_008466.1:g.4765G>T, NG_050738.1:g.5092=, NG_050738.1:g.5092C>T, 11544563, NC_000007.13:g.6048973C>A, NC_000007.14:g.6009342C>T, NC_000007.13:g.6048973C>G, 386514593, NG_008466.1:g.4765G>C, rs1062372, 1062372, 3203437, NG_008466.1:g.4765=, NG_008466.1:g.4765G>A, NG_050738.1:g.5092C>A +PA166156753 rs1062535 PA204 ITGA2 NC_000005.10:53055583 3 2 0 0 0 NG_008330.1:g.71258=, NC_000005.10:g.53055583G>A, NG_008330.1:g.71258G>A, NR_073104.1:n.968G>A, NC_000005.9:g.52351413G>T, NR_073106.1:n.968G>A, NC_000005.9:g.52351413G>A, NG_008330.1:g.71258G>T, NG_008330.2:g.71258=, 3733877, rs3733877, rs1062535, NM_002203.3:c.825G>A, NC_000005.9:g.52351413=, NP_002194.2:p.Thr275=, NG_008330.2:g.71258G>A, NR_073105.1:n.968G>A, NR_073107.1:n.847G>A, 1062535, NC_000005.10:g.53055583G>T, NR_073103.1:n.968G>A, NG_008330.2:g.71258G>T, NC_000005.10:g.53055583= +PA166154312 rs1062613 PA29555 HTR3A NC_000011.10:113975284 8 1 0 0 0 60150307, NC_000011.10:g.113975284=, NR_046363.1:n.210T>C, NC_000011.9:g.113846006T>C, NC_000011.9:g.113846006=, NG_013058.1:g.5210=, NG_013058.1:g.5210T>C, rs60150307, rs1062613, 1062613, NM_213621.3:c.-24T>C, rs3203603, 3203603, NC_000011.10:g.113975284T>C, NM_000869.5:c.-24T>C +PA166323061 rs1062753 PA24355,PA145147710 SEPTIN3,WBP2NL NC_000022.11:41996807 2 0 0 0 0 1062753, rs1062753, NC_000022.10:g.42392811G>A, NC_000022.11:g.41996807G>A, 3171704, NC_000022.11:g.41996807=, NC_000022.10:g.42392811=, 59685427 +PA166156976 rs1063320 PA35083 HLA-G NC_000006.12:29830972 4 1 0 0 0 NC_000006.12:g.29830972C>G, rs3204385, 3204385, XM_005275552.1:c.*247G=, XR_247370.1:n.1859C>G, XM_011547651.1:c.*233C=, NC_000006.11:g.29798749C>G, 17185496, NM_002127.5:c.*233C>G, NC_000006.12:g.29830972C>T, XM_005249058.1:c.*233C=, rs1063320, 1063320, XR_247370.1:n.1859C=, NT_167246.2:g.1093458C=, XM_005274964.1:c.*233C=, XM_005275119.1:c.*233C>G, NG_029039.1:g.8994=, XR_247353.1:n.1859C=, XM_005249055.1:c.*233C=, XM_011548430.1:c.*247G=, rs386485817, NT_167245.2:g.1093785C=, XM_005275121.1:c.*448C>G, XM_005275121.1:c.*448G>C, NC_000006.11:g.29798749=, XM_011548431.1:c.*247G=, XR_247389.1:n.1859C=, XM_005275119.1:c.*233C=, NC_000006.11:g.29798749C=, XM_005272810.1:c.*247G=, NT_167246.1:g.1099078C>G, 58677621, XM_005275247.1:c.*233C=, rs17185496, XR_247402.1:n.1793G=, XM_005249056.1:c.*233C>G, XM_005249056.1:c.*233G>C, 115928989, XM_005249055.1:c.*233C>G, NT_167245.2:g.1093785C>G, XM_005275248.1:c.*448C>G, XM_005275248.1:c.*448G>C, NT_167244.2:g.1096598G>C, XM_011548236.1:c.*247G>C, XM_011548237.1:c.*247G>C, XM_005249058.1:c.*233C>G, rs115928989, XM_011548048.1:c.*233C=, 386485817, 1632929, 9258500, XM_005249057.1:c.*448C>G, XM_005249057.1:c.*448G>C, XM_005275246.1:c.*233C=, NG_029039.1:g.8994C>T, XM_011547651.1:c.*233C>G, 117512550, rs16867727, XR_241896.1:n.1859C>G, NT_167244.2:g.1096598G=, XM_005275550.1:c.*247C>G, XM_005275550.1:c.*247G>C, NC_000006.12:g.29830972=, XM_011548431.1:c.*247G>C, NT_167245.1:g.1099370C=, XM_011548430.1:c.*247G>C, XM_005274967.1:c.*233C>G, XM_005275247.1:c.*233C>G, XM_005275249.1:c.*233C>G, XR_241896.1:n.1859C=, XM_005274964.1:c.*233C>G, XM_005274965.1:c.*233C>G, XR_247353.1:n.1859C>G, NG_029039.1:g.8994C>G, XM_005275552.1:c.*247G>C, XM_005275249.1:c.*233C=, XM_011547882.1:c.*233C>G, NT_167247.2:g.1093443C>G, rs9258500, rs1632929, XM_011548237.1:c.*247G=, XM_005275246.1:c.*233C>G, XR_247423.1:n.1851G=, XM_005274966.1:c.*448C>G, XM_005274966.1:c.*448G>C, NT_167249.2:g.1137017G=, XR_247423.1:n.1851G>C, NT_167246.1:g.1099078C=, XM_005275549.1:c.*247G>C, NT_167246.2:g.1093458C>G, NT_167247.2:g.1093443C=, NG_029039.1:g.8994C=, XM_005275549.1:c.*247G=, NT_167245.1:g.1099370C>G, XM_005272810.1:c.*247G>C, 16867727, NM_002127.5:c.*233C=, NT_167248.2:g.1093752G=, rs117512550, XR_247402.1:n.1793G>C, XM_011548048.1:c.*233C>G, XM_005275394.1:c.*247G=, XM_005275122.1:c.*233C>G, XM_005275122.1:c.*233G>C, XR_247389.1:n.1859C>G, XM_005274965.1:c.*233C=, XM_005275120.1:c.*233C>G, XM_005275120.1:c.*233G>C, XM_011548236.1:c.*247G=, XM_011547882.1:c.*233C=, NT_167247.1:g.1099028C>G, NT_113891.3:g.1314548G=, NT_167248.2:g.1093752G>C, XM_005275394.1:c.*247G>C, NT_167247.1:g.1099028C=, XM_005275551.1:c.*462C>G, XM_005275551.1:c.*462G>C, XM_005274967.1:c.*233C=, NC_000006.11:g.29798749C>T, NC_000006.12:g.29830972C=, NT_113891.3:g.1314548G>C, NT_167249.2:g.1137017G>C, rs58677621, XR_246963.1:n.1793G=, XR_246963.1:n.1793G>C +PA166156307 rs1063537 PA134933118 ADIPOQ NC_000003.12:186856286 1 0 0 0 0 NR_046662.1:n.-163G>A, NC_000003.12:g.186856286=, 17846871, NM_001177800.1:c.*1582C>T, NC_000003.11:g.186574075C>T, XM_011513324.1:c.*1582C>T, NG_021140.1:g.18613=, rs1063537, NC_000003.12:g.186856286C>T, NM_004797.3:c.*1582C>T, rs17846871, 1063537, NG_021140.1:g.18613C>T, NC_000003.11:g.186574075= +PA166156308 rs1063538 PA134933118 ADIPOQ NC_000003.12:186856394 1 0 0 0 0 NM_001177800.1:c.*1690T>C, rs17846873, NC_000003.12:g.186856394=, 61006468, XM_011513324.1:c.*1690T>C, NC_000003.12:g.186856394T>C, 1063538, NC_000003.11:g.186574183T>C, rs61006468, 17846873, rs1063538, rs17295273, 17295273, NC_000003.11:g.186574183=, NG_021140.1:g.18721T>C, NM_004797.3:c.*1690T>C, NG_021140.1:g.18721=, NR_046662.1:n.-271A>G +PA166156309 rs1063539 PA134933118 ADIPOQ NC_000003.12:186857603 1 0 0 0 0 NC_000003.11:g.186575392G>A, NG_021140.1:g.19930G>C, rs57588137, NM_004797.3:c.*2899G>C, NC_000003.11:g.186575392G>C, NC_000003.11:g.186575392=, rs17846874, NM_001177800.1:c.*2899G>C, NG_021140.1:g.19930=, NG_021140.1:g.19930G>A, XM_011513324.1:c.*2899G>C, NC_000003.12:g.186857603=, NC_000003.12:g.186857603G>C, 17846874, rs1063539, 1063539, 57588137, NC_000003.12:g.186857603G>A, NR_046662.1:n.-1480C>G +PA166153621 rs1065634 PA142672072,PA31768 CSDE1,NRAS NC_000001.11:114717147 1 1 0 0 0 NM_001242891.1:c.*1022A>G, rs57399409, NC_000001.11:g.114717147=, NM_001007553.2:c.*1022A>G, NM_002524.4:c.-507A>G, NC_000001.10:g.115259768T>C, NC_000001.10:g.115259768=, NM_001130523.2:c.*1022A>G, NG_007572.1:g.4748A>G, NM_007158.5:c.*1022A>G, 1065634, rs1065634, XM_005271178.1:c.*1022A>G, rs3167734, 57399409, NC_000001.11:g.114717147T>C, 3167734, NM_001242893.1:c.*1022A>G, NM_001242892.1:c.*1022A>G, NG_007572.1:g.4748= +PA166156310 rs1065776 PA32868 P2RY1 NC_000003.12:152835839 4 1 0 0 0 NC_000003.12:g.152835839=, NC_000003.11:g.152553628=, NG_032896.2:g.5893C>T, 1065776, NC_000003.12:g.152835839C>T, NP_002554.1:p.Ala19=, NG_032896.2:g.5893=, rs1065776, NC_000003.11:g.152553628C>T, NM_002563.4:c.57C>T +PA166156062 rs1065852 PA128 CYP2D6 NC_000022.11:42130692 769 99 96 0 0 XM_011548819.1:c.-1454T>C, NP_001020332.2:p.Pro34=, XM_005278354.1:c.-1454C>T, XP_011528269.1:p.Pro34Ser, NP_000097.3:p.Pro34=, XM_011547750.1:c.37+605T>C, NC_000022.11:g.42130692G>C, XR_952745.1:n.1257C=, rs58862176, rs117813846, XM_011529966.1:c.100C=, NC_000022.11:g.42130692G>A, NC_000022.11:g.42130692=, XM_005278353.1:c.100T=, XM_011529967.1:c.100C>T, XM_011529970.1:c.100C=, NC_000022.11:g.42130692G=, NG_008376.3:g.4300=, XM_011529969.1:c.37+605T>C, XP_011528272.1:p.Pro34=, NW_009646208.1:g.16258A>G, XM_011547751.1:c.-1114C>T, XR_952539.1:n.-1462A>G, XR_952539.1:n.-1462G>A, NC_000022.10:g.42526694G>A, NM_001025161.2:c.100C=, NC_000022.10:g.42526694=, 58862176, XM_005278354.3:c.-1454C>T, XM_011529968.1:c.100C>T, NC_000022.10:g.42526694G=, XM_011529971.1:c.37+605T>C, NM_000106.5:c.100C=, XM_011547541.1:c.-1454T>C, NC_000022.10:g.42526694G>C, XP_011528274.1:p.Pro34=, XR_952745.1:n.1257C>T, XR_952538.1:n.-1751A>G, XR_952538.1:n.-1751G>A, XR_952537.1:n.-1751A>G, XR_952537.1:n.-1751G>A, XM_011529972.1:c.100C>T, rs1065852, NW_004504305.1:g.53019A>G, NP_000097.3:p.Pro34Ala, XP_005278410.1:p.Ser34=, NM_000106.5:c.100C>T, XM_005278354.1:c.-1454T>C, XM_011548819.1:c.-1454C>T, NT_187682.1:g.53033G>A, NW_004504305.1:g.53019A=, NW_009646208.1:g.16258A=, NG_008376.4:g.5119C>G, NP_001020332.2:p.Pro34Ser, XM_011547750.1:c.37+605C>T, XR_952536.1:n.-1751A>G, XR_952536.1:n.-1751G>A, XP_011528268.1:p.Pro34Ser, XP_011528269.1:p.Pro34=, XM_011529967.1:c.100C=, XM_005278353.1:c.100T>C, NG_008376.4:g.5119C>T, XR_430455.2:n.328+4A>G, XR_430455.2:n.328+4G>A, XM_011529970.1:c.100C>T, XM_011529972.1:c.100C=, XM_011529969.1:c.37+605C>T, XP_005278410.1:p.Ser34Pro, XM_011547756.1:c.42+469A>G, XM_011547756.1:c.42+469G>A, XM_011547751.1:c.-1114T>C, NT_187682.1:g.53033G=, XM_005278354.3:c.-1454T>C, NG_008376.3:g.4300C>T, XP_011528274.1:p.Pro34Ser, XM_011529968.1:c.100C=, NG_008376.3:g.4300C>G, XM_011529971.1:c.37+605C>T, XM_011547541.1:c.-1454C>T, NG_008376.4:g.5119=, NP_000097.3:p.Pro34Ser, 117813846, NM_001025161.2:c.100C>T, XP_011528270.1:p.Pro34Ser, XM_011529966.1:c.100C>T, XP_011528268.1:p.Pro34=, XP_011528270.1:p.Pro34=, 1065852, NG_008376.3:g.4300C=, XP_011528272.1:p.Pro34Ser +PA166153941 rs10711 PA99 CDK1 NC_000010.11:60794716 1 1 0 0 0 NC_000010.10:g.62554474=, NC_000010.10:g.62554474T>C, NC_000010.10:g.62554474T>G, NG_029877.1:g.21386T>G, rs56922000, rs17834242, NM_033379.4:c.*741T>G, NM_001786.4:c.*741T>G, XM_006718082.1:c.*741T>G, XM_005270303.2:c.*741T>G, 10711, XM_005270303.1:c.*741T>G, 56922000, NG_029877.1:g.21386=, NC_000010.11:g.60794716=, rs3201258, NG_029877.1:g.21386T>C, NC_000010.11:g.60794716T>G, rs10711, 17834242, NC_000010.11:g.60794716T>C, 3201258 +PA166309283 rs1071748 PA35076 HLA-DRB5 NC_000006.12:32522156 1 0 0 0 0 NP_002116.2:p.Asp40Ala, 3200284, NC_000006.11:g.32489933T>G, NG_002432.1:g.69424T>G, NC_000006.11:g.32489933T>C, NG_002392.2:g.65461C>T, NC_000006.11:g.32489933T>A, NP_002116.2:p.Asp40Val, 17433856, NC_000006.12:g.32522156T>C, 113885438, 3200287, NC_000006.12:g.32522156T>A, NG_002432.1:g.69424=, NC_000006.12:g.32522156T>G, 3205557, NP_002116.2:p.Asp40Gly, NC_000006.11:g.32489933=, 78967353, NP_002116.2:p.Asp40=, NG_002392.2:g.65461C>G, NG_002432.1:g.69424T>A, NG_002432.1:g.69424T>C, NG_002392.2:g.65461C>A, rs1071748, 1071748, NC_000006.12:g.32522156= +PA166170341 rs1071816 PA35056 HLA-B NC_000006.12:31356759 1 1 0 0 0 3175996, NG_023187.1:g.5454A>G, NP_005505.2:p.Tyr91Ser, 16896288, NP_005505.2:p.Tyr91=, 3167798, NG_023187.1:g.5454A>C, NC_000006.12:g.31356759T>G, rs1071816, 1071816, NC_000006.12:g.31356759T>A, NP_005505.2:p.Tyr91Phe, NC_000006.12:g.31356759T>C, NC_000006.11:g.31324536T>G, NC_000006.12:g.31356759=, 147726893, NC_000006.11:g.31324536T>A, NC_000006.11:g.31324536=, NC_000006.11:g.31324536T>C, NP_005505.2:p.Tyr91Cys, 9266172, 9266171, NG_023187.1:g.5454=, NG_023187.1:g.5454A>T, 111439933 +PA166183956 rs1072003 PA26492 CHRNA6 NC_000008.11:42764858 1 0 0 0 0 rs1072003, 1072003, 16891616, NC_000008.10:g.42620001C>G, 2304298, NC_000008.10:g.42620001=, NC_000008.11:g.42764858=, NC_000008.11:g.42764858C>G +PA166154510 rs1072388 PA28980 GRIN2B NC_000012.12:13785842 1 1 0 0 0 NG_031854.1:g.199247C>T, NC_000012.12:g.13785842G>C, rs1072388, 1072388, NC_000012.12:g.13785842G>A, NG_031854.2:g.201171C>G, NC_000012.11:g.13938776=, XM_011520629.1:c.412-31927C>T, NC_000012.11:g.13938776G>C, NG_031854.2:g.201171=, NC_000012.12:g.13785842=, rs17821324, NC_000012.11:g.13938776G>A, 17821324, NM_000834.3:c.412-31927C>T, NG_031854.2:g.201171C>T, XM_011520630.1:c.412-31927C>T, XM_011520628.1:c.412-31927C>T +PA166157808 rs10735239 PA38725 KCNT1 NC_000009.12:135752357 1 0 0 0 0 NG_033070.1:g.55173=, XM_005263407.1:c.434+1316T>C, rs10735239, 59002155, XM_011518881.1:c.-186T>C, NG_033070.1:g.55173T>C, NM_020822.2:c.434+1316T>C, NM_001272003.1:c.290+1316T>C, NC_000009.11:g.138644203T>C, 56588024, NC_000009.11:g.138644203=, XM_011518877.1:c.569+1316T>C, XM_011518878.1:c.569+1316T>C, XM_011518880.1:c.335+1316T>C, 10735239, NC_000009.12:g.135752357=, NC_000009.12:g.135752357T>C, rs59002155, XM_011518879.1:c.569+1316T>C, rs56588024 +PA166154432 rs10736526 PA162407840 UBASH3B NC_000011.10:122718384 1 0 0 0 0 NC_000011.9:g.122589092=, rs10736526, rs57673796, NC_000011.9:g.122589092T>A, NC_000011.10:g.122718384=, NC_000011.10:g.122718384T>C, NC_000011.9:g.122589092T>C, NC_000011.9:g.122589092T>G, NM_032873.4:c.162-57835T>C, NC_000011.10:g.122718384T>A, XM_011543042.1:c.53-57835T>C, 10736526, 57673796, NC_000011.10:g.122718384T>G +PA166154112 rs10737062 PA134992438 CAMK1D NC_000010.11:12690744 2 1 0 0 0 NM_020397.3:c.299+23934G>A, NC_000010.11:g.12690744=, 59326810, NC_000010.10:g.12732743=, rs10737062, XM_006717483.2:c.299+23934G>A, NC_000010.11:g.12690744G>C, XM_011519592.1:c.89+23934G>A, XM_011519595.1:c.8+23934G>A, 12776533, NM_153498.3:c.299+23934G>A, NC_000010.11:g.12690744G>A, rs59326810, XM_011519591.1:c.260+23934G>A, XM_011519596.1:c.8+23934G>A, NC_000010.10:g.12732743G>C, NC_000010.10:g.12732743G>A, XM_006717481.2:c.242+23934G>A, 10737062, XM_006717482.2:c.299+23934G>A, XM_011519593.1:c.77+23934G>A, rs12776533 +PA166153804 rs10737680 PA29261 CFH NC_000001.11:196710325 1 0 0 0 0 NC_000001.11:g.196710325A>C, NG_007259.1:g.63315A>T, 60981502, NC_000001.10:g.196679455A>C, NG_007259.1:g.63315=, rs10737680, 58641295, rs60981502, NG_007259.1:g.63315A>C, NC_000001.10:g.196679455A>T, NC_000001.11:g.196710325A>T, 10737680, rs58641295, NC_000001.11:g.196710325=, NC_000001.10:g.196679455=, NM_000186.3:c.1337-3410A>C +PA166157809 rs10739150 NC_000009.12:8176226 1 1 0 0 0 NC_000009.11:g.8176226T>G, rs59869536, rs10739150, 59869536, 10739150, NC_000009.12:g.8176226T>G, NC_000009.11:g.8176226=, NC_000009.12:g.8176226= +PA166181115 rs10741058 PA88 CACNB2 NC_000010.11:18427216 1 0 0 0 0 58719718, NG_016195.1:g.291540=, NC_000010.10:g.18716145T>C, NC_000010.11:g.18427216=, 118202787, NG_016195.1:g.291540T>C, NC_000010.11:g.18427216T>C, NC_000010.10:g.18716145=, rs10741058, 10741058 +PA166153962 rs1074145 NC_000010.11:94922089 1 0 0 0 0 rs17602864, NC_000010.10:g.96681846G>A, NC_000010.11:g.94922089G>A, 17602864, 4342952, rs4342952, NC_000010.11:g.94922089=, rs1074145, NC_000010.10:g.96681846=, 1074145 +PA166163255 rs10741657 PA134986407 CYP2R1 NC_000011.10:14893332 2 1 0 0 0 NC_000011.10:g.14893332=, rs10741657, NC_000011.9:g.14914878=, NC_000011.10:g.14893332A>G, NC_000011.9:g.14914878A>C, NC_000011.10:g.14893332A>C, NC_000011.9:g.14914878A>G, 10741657, NG_007936.1:g.3874T>C, 61548184, NG_007936.1:g.3874T>G, 17488643, NG_007936.1:g.3874= +PA166177785 rs1074287 PA31945 OPRM1 NC_000006.12:154027674 1 1 0 0 0 NG_021208.2:g.22174=, NG_021208.2:g.22174A>G, NC_000006.11:g.154348809A>G, 59209496, NC_000006.12:g.154027674A>G, 17463373, 4345405, NC_000006.11:g.154348809=, 1074287, rs1074287, NC_000006.12:g.154027674= +PA166154433 rs10743152 PA351 TH NC_000011.10:2174751 1 0 0 0 0 NC_000011.10:g.2174751T>C, 10743152, NC_000011.9:g.2195981T>G, 59121716, NC_000011.10:g.2174751T>G, NG_008128.1:g.2055A>T, NC_000011.10:g.2174751=, NG_008128.1:g.2055A>C, NC_000011.9:g.2195981=, NG_008128.1:g.2055A>G, NC_000011.9:g.2195981T>C, rs59121716, NG_008128.1:g.2055=, NC_000011.9:g.2195981T>A, NC_000011.10:g.2174751T>A, rs10743152 +PA166157287 rs1074373 NC_000007.14:30577145 1 1 0 0 0 NR_038889.1:n.132-435T>G, NC_000007.13:g.30616761=, NC_000007.13:g.30616761A>T, NC_000007.14:g.30577145A>C, rs17488568, rs72494349, 386422387, rs1074373, 1074373, 72494349, NC_000007.14:g.30577145=, NC_000007.13:g.30616761A>C, 17488568, rs386422387, NC_000007.14:g.30577145A>T, 4392797, rs4392797 +PA166154613 rs10747673 NC_000012.12:53361428 2 1 0 0 0 rs10747673, NC_000012.12:g.53361428A>G, NC_000012.11:g.53755212=, 10747673, NC_000012.12:g.53361428A>T, NC_000012.11:g.53755212A>G, 60245000, NC_000012.11:g.53755212A>T, rs60245000, NC_000012.12:g.53361428= +PA166154113 rs10752271 PA134992438 CAMK1D NC_000010.11:12662192 2 1 0 0 0 rs56593416, NC_000010.10:g.12704191=, XM_006717483.2:c.225-4544G>A, NC_000010.11:g.12662192G>A, rs57320209, NM_020397.3:c.225-4544G>A, NC_000010.11:g.12662192G>C, rs10752271, NC_000010.10:g.12704191G>C, XM_006717482.2:c.225-4544G>A, 59119864, XM_011519591.1:c.186-4544G>A, XM_006717481.2:c.168-4544G>A, 56593416, NC_000010.10:g.12704191G>A, XM_011519595.1:c.-67-4544G>A, 10752271, NC_000010.11:g.12662192=, rs59119864, NM_153498.3:c.225-4544G>A, 57320209 +PA166175996 rs10753331 PA31942 OPRD1 NC_000001.11:28838070 5 0 0 0 0 NC_000001.11:g.28838070G>A, 57782482, NC_000001.11:g.28838070G>T, NC_000001.10:g.29164582=, rs10753331, 10753331, 61039600, NC_000001.11:g.28838070=, NC_000001.10:g.29164582G>T, NC_000001.10:g.29164582G>A +PA166163385 rs10754558 PA26512 NLRP3 NC_000001.11:247448734 1 0 0 0 0 10754558, NC_000001.11:g.247448734G>C, NC_000001.10:g.247612036G>C, NG_007509.2:g.37562=, NC_000001.10:g.247612036G>T, rs10754558, 60966665, NC_000001.11:g.247448734G>T, NG_007509.2:g.37562G>C, NG_007509.2:g.37562G>T, NC_000001.10:g.247612036=, NC_000001.11:g.247448734= +PA166157810 rs10757274 PA164717802 CDKN2B-AS1 NC_000009.12:22096056 1 1 0 0 0 rs10757274, NC_000009.11:g.22096055A>T, NR_003529.3:n.2449-316A>G, NC_000009.12:g.22096056A>T, NR_047535.1:n.781-16264A>G, 33940163, NC_000009.11:g.22096055=, NR_047536.1:n.645-16264A>G, NC_000009.12:g.22096056A>G, NR_047538.1:n.645-24144A>G, NR_047534.1:n.645-1202A>G, NR_047543.1:n.781-16264A>G, NC_000009.11:g.22096055A>G, NC_000009.11:g.22096055A>C, NR_047537.1:n.781-24144A>G, NC_000009.12:g.22096056=, 10757274, NC_000009.12:g.22096056A>C, NR_047532.1:n.1238-316A>G, rs33940163, NR_120536.1:n.645-24448A>G +PA166165300 rs10758713 PA134907262 BRD10 NC_000009.12:5872949 1 0 0 0 0 386514922, NC_000009.12:g.5872949A>G, NC_000009.11:g.5872949=, rs10758713, 10758713, NC_000009.11:g.5872949A>G, 57334219, NC_000009.12:g.5872949= +PA166179462 rs10759637 PA118 SLC31A1 NC_000009.12:113262744 2 1 0 0 0 NC_000009.12:g.113262744A>G, NC_000009.11:g.116025024A>C, NC_000009.12:g.113262744=, rs10759637, 10759637, 16931892, NC_000009.12:g.113262744A>C, NC_000009.11:g.116025024=, NC_000009.11:g.116025024A>G +PA166157811 rs10760397 PA142671748 GAPVD1 NC_000009.12:125370928 1 1 0 0 0 rs10760397, 10760397, NC_000009.12:g.125370928=, NC_000009.11:g.128133207=, rs58258954, NC_000009.11:g.128133207T>C, NC_000009.12:g.125370928T>C, 58258954 +PA166157812 rs10760502 PA167 FPGS NC_000009.12:127802988 1 0 0 0 0 XM_005251864.1:c.64A>G, XM_011518437.1:c.-570A>G, XR_242581.2:n.109A>G, NC_000009.11:g.130565267A>T, 17855899, NP_001275732.1:p.Ile22Val, NG_023245.1:g.5114=, 56845445, NC_000009.11:g.130565267A>G, XR_242581.1:n.90A>G, NC_000009.12:g.127802988A>C, XR_242582.1:n.90A>G, NC_000009.11:g.130565267=, NP_004948.4:p.Ile22Val, NM_001288803.1:c.64A>G, XR_242582.2:n.109A>G, rs56845445, NC_000009.12:g.127802988=, NP_004948.4:p.Ile22Leu, NM_004957.5:c.64A>G, NC_000009.12:g.127802988A>G, NG_023245.1:g.5114A>T, XP_005251920.1:p.Ile22Val, NC_000009.12:g.127802988A>T, XM_005251863.1:c.64A>G, XM_011518438.1:c.-181A>G, rs10760502, XP_005251921.1:p.Ile22Val, NG_023245.1:g.5114A>G, 10760502, NC_000009.11:g.130565267A>C, NG_023245.1:g.5114A>C, NP_004948.4:p.Ile22=, NR_110170.1:n.131A>G, rs17855899, XM_005251865.1:c.-1659A>G, XM_005251864.2:c.64A>G, NM_001018078.2:c.-429A>G +PA166154313 rs1076560 PA27478 DRD2 NC_000011.10:113412966 16 4 0 0 0 NC_000011.9:g.113283688C>A, NM_016574.3:c.724-83G>T, NC_000011.10:g.113412966C>G, NM_000795.3:c.811-83G>T, rs1076560, 1076560, NC_000011.10:g.113412966=, NC_000011.9:g.113283688C>G, NG_008841.1:g.67314G>C, NG_008841.1:g.67314=, XM_005271426.1:c.808-83G>T, rs1800500, NC_000011.9:g.113283688=, XM_005271425.1:c.811-83G>T, 1800500, NC_000011.10:g.113412966C>A, NG_008841.1:g.67314G>T +PA166154314 rs1076563 PA27478 DRD2 NC_000011.10:113425187 1 0 0 0 0 XM_005271426.1:c.-536T>G, NC_000011.10:g.113425187=, rs1076563, XM_005271425.1:c.-31-505T>G, rs61055566, 1076563, NC_000011.9:g.113295909=, NG_008841.1:g.55093T>G, NG_008841.1:g.55093=, NC_000011.10:g.113425187A>C, NC_000011.9:g.113295909A>C, NM_016574.3:c.-31-505T>G, 61055566, NM_000795.3:c.-31-505T>G +PA166208983 rs10770140 PA351 TH NC_000011.10:2172367 5 1 0 0 0 10770140, NG_008128.1:g.4439G>C, NC_000011.10:g.2172367C>G, NG_008128.1:g.4439=, NG_008128.1:g.4439G>A, NC_000011.9:g.2193597C>T, NC_000011.9:g.2193597=, NC_000011.10:g.2172367=, NC_000011.10:g.2172367C>T, rs10770140, NG_008128.1:g.4439G>T, NC_000011.10:g.2172367C>A, NC_000011.9:g.2193597C>G, NC_000011.9:g.2193597C>A +PA166154434 rs10770141 PA351 TH NC_000011.10:2172610 6 1 0 0 0 10770141, NR_039834.1:n.-453A>G, NM_000360.3:c.-824T>C, NC_000011.9:g.2193840A>G, NG_008128.1:g.4196T>C, NC_000011.10:g.2172610A>G, NC_000011.9:g.2193840A>C, NG_008128.1:g.4196T>G, rs60819659, NC_000011.9:g.2193840=, NC_000011.10:g.2172610A>C, XM_011520335.1:c.-824T>C, NC_000011.10:g.2172610=, rs10770141, XM_005253101.1:c.-824T>C, 60819659, XM_005253100.1:c.-824T>C, NG_008128.1:g.4196=, XM_005253099.1:c.-824T>C, NM_199292.2:c.-824T>C, NM_199293.2:c.-824T>C +PA166154614 rs10771973 PA134907925 FGD4 NC_000012.12:32640040 1 1 0 0 0 XM_005253305.1:c.2380-236G>A, 17612355, rs57619988, XM_005253308.1:c.1765-236G>A, NM_001304481.1:c.2299-236G>A, XM_011520557.1:c.1492-236G>A, XM_011520559.1:c.1279-236G>A, XM_011520556.1:c.2044-236G>A, XM_011520555.1:c.2044-236G>A, XM_005253309.1:c.1765-236G>A, XM_005253307.2:c.1765-236G>A, XM_011520558.1:c.1447-236G>A, NC_000012.11:g.32792974G>A, NM_139241.3:c.2044-236G>A, NG_008626.2:g.245512G>A, XM_005253308.3:c.1765-236G>A, XM_005253310.3:c.1300-236G>A, NG_008626.2:g.245512=, XM_005253304.3:c.2536-236G>A, rs10771973, NM_001304484.1:c.1012-236G>A, XM_011520554.1:c.2338-236G>A, NC_000012.12:g.32640040G>A, NM_001304480.1:c.2380-236G>A, rs17612355, NM_139241.2:c.2044-236G>A, XM_005253304.1:c.2536-236G>A, XM_005253310.1:c.1300-236G>A, 57619988, XM_005253307.1:c.1765-236G>A, NC_000012.11:g.32792974=, XM_005253306.1:c.2299-236G>A, NC_000012.12:g.32640040=, 10771973 +PA166177187 rs10771997 NC_000012.12:9658801 1 1 0 0 0 NC_000012.12:g.9658801=, NC_000012.11:g.9811397T>G, NC_000012.12:g.9658801T>G, 10771997, rs10771997, NC_000012.12:g.9658801T>C, NC_000012.11:g.9811397T>A, 57025072, NC_000012.11:g.9811397=, NC_000012.11:g.9811397T>C, NC_000012.12:g.9658801T>A +PA166177188 rs10771998 NC_000012.12:9658872 1 1 0 0 0 NC_000012.11:g.9811468=, NC_000012.11:g.9811468A>G, NC_000012.12:g.9658872A>G, NC_000012.12:g.9658872=, rs10771998, 10771998 +PA166177189 rs10771999 NC_000012.12:9658876 1 1 0 0 0 NC_000012.12:g.9658876=, NC_000012.12:g.9658876C>A, NC_000012.11:g.9811472C>G, rs10771999, 57956442, 10771999, NC_000012.12:g.9658876C>G, NC_000012.11:g.9811472C>A, NC_000012.11:g.9811472= +PA166163612 rs10774053 PA83 CACNA1C NC_000012.12:2681966 1 1 0 0 0 NC_000012.12:g.2681966A>C, NG_008801.2:g.716181=, 10774053, NC_000012.12:g.2681966=, rs10774053, NC_000012.11:g.2791132A>C, NC_000012.12:g.2681966A>G, NC_000012.11:g.2791132A>G, NP_001123302.2:p.Met1821=, NC_000012.11:g.2791132=, NP_001123302.2:p.Met1821Val, NG_008801.2:g.716181A>C, 17761283, NP_001123302.2:p.Met1821Leu, NG_008801.2:g.716181A>G +PA166154114 rs10776586 PA26448 CHAT NC_000010.11:49650300 1 0 0 0 0 NM_020986.3:c.1157+664T>C, NM_001142933.1:c.1265+664T>C, NC_000010.10:g.50858346=, 10776586, 17775728, NM_001142929.1:c.1157+664T>C, 56990565, rs10776586, NC_000010.11:g.49650300=, NM_001142934.1:c.1157+664T>C, NG_011797.1:g.46206T>C, NC_000010.10:g.50858346T>A, rs17775728, NG_011797.1:g.46206T>A, NC_000010.10:g.50858346T>C, NM_020549.4:c.1511+664T>C, NM_020984.3:c.1157+664T>C, rs56990565, NM_020985.3:c.1157+664T>C, NG_011797.1:g.46206=, NC_000010.11:g.49650300T>C, NC_000010.11:g.49650300T>A +PA166157813 rs10776845 PA38725 KCNT1 NC_000009.12:135778130 1 0 0 0 0 NG_033070.1:g.80946C>A, XM_011518877.1:c.2658-294C>A, XM_011518878.1:c.2667-294C>A, rs59018585, 59018585, NC_000009.11:g.138669976C>A, NC_000009.12:g.135778130C>A, NC_000009.12:g.135778130=, NM_020822.2:c.2523-294C>A, XM_011518879.1:c.2658-294C>A, rs10776845, NG_033070.1:g.80946=, XM_005263407.1:c.2523-294C>A, NM_001272003.1:c.2388-294C>A, XM_011518881.1:c.2013-294C>A, 10776845, XM_011518880.1:c.2424-294C>A, NC_000009.11:g.138669976= +PA166157814 rs10776850 PA38725 KCNT1 NC_000009.12:135785692 1 0 0 0 0 XM_011518878.1:c.3321+362T>A, 10776850, NG_033070.1:g.88508=, NC_000009.11:g.138677538T>A, XM_011518879.1:c.3312+362T>A, rs10776850, NC_000009.11:g.138677538=, NM_020822.2:c.3177+362T>A, NG_033070.1:g.88508T>A, XM_011518880.1:c.3078+362T>A, XM_005263407.1:c.3177+362T>A, XM_011518881.1:c.2667+362T>A, NC_000009.12:g.135785692T>A, NC_000009.12:g.135785692=, XM_011518877.1:c.3312+362T>A, NM_001272003.1:c.3042+362T>A +PA166159117 rs10778228 PA143485372 C12orf42 NC_000012.12:103290455 1 0 0 0 0 rs10778228, 61027496, NC_000012.12:g.103290455G>A, NC_000012.12:g.103290455=, NC_000012.11:g.103684233G>A, NC_000012.11:g.103684233=, 10778228 +PA166310641 rs1077858 PA35845 SLCO2B1 NC_000011.10:75190556 1 0 0 0 0 rs1077858, NC_000011.10:g.75190556=, 17310849, 57129420, 1789692, 1077858, NG_027921.1:g.44570G>A, NC_000011.10:g.75190556G>A, NC_000011.9:g.74901601=, 58835742, NG_027921.1:g.44570=, NC_000011.9:g.74901601G>A +PA166161150 rs10782001 PA134911396 FBXL19 NC_000016.10:30931304 1 1 0 0 0 10782001, NC_000016.9:g.30942625=, NC_000016.10:g.30931304G>A, NC_000016.9:g.30942625G>A, NC_000016.10:g.30931304=, NC_000016.9:g.30942625G>C, rs10782001, NC_000016.10:g.30931304G>C +PA166153805 rs10783050 NC_000001.11:96571527 1 0 0 0 0 59890764, 10783050, NC_000001.11:g.96571527=, rs10783050, rs59890764, NC_000001.10:g.97037083T>C, NC_000001.10:g.97037083=, NC_000001.11:g.96571527T>C, NC_000001.11:g.96571527T>A, NC_000001.10:g.97037083T>A +PA166154615 rs10783969 PA143485370 REDIC1 NC_000012.12:39659356 1 0 0 0 0 NC_000012.12:g.39659356T>G, 10783969, NM_001319247.1:c.686+9002T>G, XM_011538231.1:c.455+9002T>G, NC_000012.11:g.40053158T>G, NC_000012.11:g.40053158=, XM_006719358.2:c.455+9002T>G, rs10783969, XM_005268806.2:c.455+9002T>G, XM_005268806.1:c.455+9002T>G, NC_000012.12:g.39659356=, XR_245921.1:n.666+9002T>G, NR_135051.1:n.717+9002T>G, NM_001031748.3:c.686+9002T>G +PA166154616 rs10784749 NC_000012.12:69028249 1 0 0 0 0 NC_000012.11:g.69422029C>G, 10784749, 58473609, rs10784749, NC_000012.12:g.69028249C>G, NC_000012.11:g.69422029=, rs58473609, NC_000012.12:g.69028249= +PA166155622 rs1078533 PA203 IRS1 NC_000002.12:226765871 1 0 0 0 0 NC_000002.12:g.226765871=, NC_000002.12:g.226765871C>A, NM_005544.2:c.*21+29118G>T, NC_000002.11:g.227630587=, rs4425069, 4425069, NG_015830.1:g.37920=, NC_000002.11:g.227630587C>A, NG_015830.1:g.37920G>T, 1078533, rs1078533 +PA166154115 rs10787899 PA27699 EIF3A NC_000010.11:119039143 1 0 0 0 0 rs10787899, 61307620, 10787899, XM_005270259.1:c.3497-704C>T, NC_000010.10:g.120798655=, NM_003750.2:c.3527-704C>T, NC_000010.11:g.119039143G>C, NC_000010.10:g.120798655G>A, NC_000010.11:g.119039143G>A, NC_000010.11:g.119039143=, XM_005270260.1:c.3425-704C>T, rs61307620, NC_000010.10:g.120798655G>C +PA166274201 rs10787959 PA180 GRK5 NC_000010.11:119371801 1 1 0 0 0 NC_000010.11:g.119371801A>C, NC_000010.10:g.121131313A>C, 61515658, rs10787959, NC_000010.11:g.119371801=, 10787959, NC_000010.11:g.119371801A>G, NC_000010.10:g.121131313A>G, NC_000010.10:g.121131313= +PA166153806 rs10789038 PA33745 PRKAA2 NC_000001.11:56651444 2 0 0 0 0 NC_000001.10:g.57117117=, NC_000001.11:g.56651444=, 10789038, NC_000001.11:g.56651444A>G, NC_000001.10:g.57117117A>G, NM_006252.3:c.94+5963A>G, rs10789038 +PA166195104 rs1078997 PA142671604 KANSL1 NC_000017.11:46032477 1 0 0 0 0 NC_000017.10:g.44109843A>G, NC_000017.11:g.46032477A>G, NG_032784.1:g.197898T>C, 2074432, NG_032784.1:g.197898=, NC_000017.10:g.44109843=, 116967224, 1078997, 116204718, rs1078997, 59010778, NC_000017.11:g.46032477= +PA166154435 rs10789970 PA29556 HTR3B NC_000011.10:113903224 1 0 0 0 0 rs58425466, NC_000011.10:g.113903224C>T, NC_000011.9:g.113773946=, 61078195, 58425466, NM_006028.4:c.-1710C>T, NG_011483.1:g.3358C>T, XM_011543064.1:c.12+4141C>T, rs61078195, NG_011483.1:g.3358=, NC_000011.10:g.113903224=, 10789970, rs10789970, NC_000011.9:g.113773946C>T +PA166159085 rs1079199 PA24873 APBB1 NC_000011.10:6406876 1 0 0 0 0 NG_029615.1:g.17539A>G, 16913187, NC_000011.10:g.6406876=, NC_000011.10:g.6406876T>C, 1079199, NC_000011.9:g.6428106T>C, 17550647, rs1079199, 11565140, NG_029615.1:g.17539=, 4079255, 59512118, NC_000011.9:g.6428106= +PA166154436 rs10792367 NC_000011.10:62991327 1 1 0 0 0 NC_000011.9:g.62758799C>G, NC_000011.10:g.62991327C>G, 61596285, NC_000011.10:g.62991327=, rs10792367, rs56617038, rs61596285, 10792367, 56617038, 17712912, rs17712912, NC_000011.9:g.62758799= +PA166157815 rs10793902 PA162376926 ASS1 NC_000009.12:130502523 1 0 0 0 0 rs58909175, NG_011542.1:g.62817=, XR_930393.1:n.28G>A, 10793902, NC_000009.11:g.133377910C>T, NG_011542.1:g.62817C>T, rs10793902, NC_000009.12:g.130502523=, NC_000009.11:g.133377910=, NC_000009.12:g.130502523C>T, 58909175 +PA166154116 rs10795668 NC_000010.11:8659256 1 0 0 0 0 60782192, XR_930641.1:n.132-40C>T, rs60782192, rs10795668, NC_000010.11:g.8659256=, NC_000010.10:g.8701219G>A, NC_000010.11:g.8659256G>A, 10795668, NC_000010.10:g.8701219= +PA166183998 rs1079596 PA27478 DRD2 NC_000011.10:113425897 4 1 0 0 0 386515317, NG_008841.1:g.54383G>T, NC_000011.10:g.113425897C>T, NG_008841.1:g.54383=, NC_000011.10:g.113425897=, 1079596, 60692347, NC_000011.9:g.113296619C>T, rs1079596, NC_000011.10:g.113425897C>A, NC_000011.9:g.113296619C>A, NG_008841.1:g.54383G>A, NC_000011.9:g.113296619= +PA166154315 rs1079597 PA27478 DRD2 NC_000011.10:113425564 3 2 0 0 0 XM_005271425.1:c.-31-882G>A, NC_000011.10:g.113425564=, 386515318, NC_000011.9:g.113296286=, NC_000011.9:g.113296286C>T, XM_005271426.1:c.-913G>A, 4134619, 1079597, 4986917, rs4646980, rs4986917, rs1079597, rs60979161, NG_008841.1:g.54716G>A, 17294542, 4646980, NG_008841.1:g.54716=, rs4134619, rs386515318, 60979161, NM_016574.3:c.-31-882G>A, NM_000795.3:c.-31-882G>A, rs17294542, NC_000011.10:g.113425564C>T +PA166154316 rs1079598 PA27478 DRD2 NC_000011.10:113425552 1 1 0 0 0 rs4986924, NC_000011.10:g.113425552=, NC_000011.9:g.113296274=, NC_000011.9:g.113296274A>G, 1079598, XM_005271426.1:c.-901T>C, rs61553796, rs1079598, 4986924, XM_005271425.1:c.-31-870T>C, NC_000011.10:g.113425552A>T, NC_000011.10:g.113425552A>G, rs4134628, NG_008841.1:g.54728=, 4134628, NC_000011.9:g.113296274A>T, 61553796, NM_000795.3:c.-31-870T>C, NG_008841.1:g.54728T>A, NG_008841.1:g.54728T>C, NM_016574.3:c.-31-870T>C +PA166252261 rs10799590 PA134929862 CNIH3 NC_000001.11:224634780 1 1 0 0 0 NC_000001.11:g.224634780G>A, NC_000001.11:g.224634780=, NC_000001.10:g.224822482G>A, 10799590, rs10799590, 17513431, NC_000001.10:g.224822482=, 57951658 +PA166153808 rs10799754 NC_000001.11:22420193 1 0 0 0 0 rs10799754, NC_000001.10:g.22746686=, NC_000001.11:g.22420193T>C, 10799754, XR_947058.1:n.-1255A>G, NC_000001.11:g.22420193=, rs58371367, NC_000001.10:g.22746686T>C, 58371367 +PA166153809 rs10800397 PA142671259 NOS1AP NC_000001.11:162267300 2 1 0 0 0 NC_000001.11:g.162267300C>G, NC_000001.10:g.162237090C>G, NG_015979.2:g.202510=, NG_015979.1:g.202510C>T, NM_001164757.1:c.178-20044C>T, NC_000001.10:g.162237090=, NG_015979.2:g.202510C>G, NG_015979.1:g.202510=, NC_000001.10:g.162237090C>T, NG_015979.1:g.202510C>G, NC_000001.11:g.162267300C>T, 10800397, rs10800397, NG_015979.2:g.202510C>T, NC_000001.11:g.162267300=, NM_014697.2:c.178-20044C>T +PA166153810 rs10801555 PA29261 CFH NC_000001.11:196691131 1 0 0 0 0 NC_000001.11:g.196691131A>T, NC_000001.11:g.196691131=, NC_000001.10:g.196660261=, XM_005245111.1:c.1336+892A>G, rs60796007, NC_000001.10:g.196660261A>T, NG_007259.1:g.44121A>G, NM_000186.3:c.1336+892A>G, NM_001014975.2:c.1336+892A>G, XM_005245112.1:c.1336+892A>G, 10801555, NC_000001.10:g.196660261A>G, NC_000001.11:g.196691131A>G, 60796007, NG_007259.1:g.44121A>T, rs10801555, NG_007259.1:g.44121= +PA166182336 rs10802887 PA134968998 GREM2 NC_000001.11:240550730 1 1 0 0 0 NC_000001.10:g.240714030=, NC_000001.11:g.240550730=, NC_000001.11:g.240550730A>T, NC_000001.10:g.240714030A>G, NG_053136.1:g.66643T>A, NG_053136.1:g.66643T>C, NC_000001.11:g.240550730A>G, 56700563, 10802887, NG_053136.1:g.66643=, rs10802887, NC_000001.10:g.240714030A>T +PA166157170 rs10807344 PA38452,PA134970102 CYP39A1,SLC25A27 NC_000006.12:46657898 1 0 0 0 0 NC_000006.11:g.46625635C>T, 10807344, NC_000006.11:g.46625635=, XM_005249483.1:c.299-1064C>T, NC_000006.12:g.46657898=, XM_005249485.1:c.-17-1064C>T, rs58788242, XR_427858.1:n.547-1064C>T, rs10807344, XM_005249484.1:c.155-1064C>T, NM_001204051.1:c.299-1064C>T, NM_004277.4:c.299-1064C>T, NC_000006.12:g.46657898C>T, 58788242, NM_001204052.1:c.299-1064C>T, XM_005249483.2:c.299-1064C>T, XR_241952.1:n.547-1064C>T +PA166181268 rs10808071 PA267 ABCB1 NC_000007.14:87511492 1 0 0 0 0 58040829, NC_000007.14:g.87511492=, NC_000007.14:g.87511492A>G, 11535262, NC_000007.13:g.87140808=, NG_011513.1:g.206757=, NG_011513.1:g.206757T>C, 10808071, rs10808071, NC_000007.13:g.87140808A>G +PA166156063 rs1080983 PA128 CYP2D6 NC_000022.11:42132561 1 0 0 0 0 XM_011529972.1:c.-1770A>G, XM_011529972.1:c.-1770G>A, XR_952538.1:n.122C>T, XM_011529970.1:c.-1770A>G, XM_011529970.1:c.-1770G>A, NG_008376.3:g.2431G>A, XR_430455.2:n.836T>C, XM_011547756.1:c.42+2343T>C, XM_005278353.1:c.-1773A>G, XM_005278353.1:c.-1773G>A, XR_952539.1:n.40+371C>T, NC_000022.11:g.42132561C>T, NW_004504305.1:g.54891C=, 1080983, rs1080983, NW_009646208.1:g.18129C=, XM_011529969.1:c.-1228A>G, XM_011529969.1:c.-1228G>A, XM_011529968.1:c.-1770A>G, XM_011529968.1:c.-1770G>A, XR_952538.1:n.122C=, XM_011529966.1:c.-1770A>G, XM_011529966.1:c.-1770G>A, XM_011529967.1:c.-1045-725A>G, XM_011529967.1:c.-1045-725G>A, XR_952540.1:n.-1213T>C, NC_000022.11:g.42132561=, NM_000106.5:c.-1770A>G, NM_000106.5:c.-1770G>A, NT_187682.1:g.54907T=, NG_008376.4:g.3250=, NC_000022.10:g.42528568T=, NG_008376.3:g.2431=, NG_008376.3:g.2431G=, NW_009646208.1:g.18129C>T, NM_001025161.2:c.-1770A>G, NM_001025161.2:c.-1770G>A, NW_004504305.1:g.54891C>T, XM_011547750.1:c.-1233A>G, XM_011547750.1:c.-1233G>A, XR_430455.2:n.836C>T, 57121857, XR_952537.1:n.122C=, XM_011547756.1:c.42+2343C>T, NT_187682.1:g.54907T>C, XR_952537.1:n.122C>T, XR_952539.1:n.40+371T>C, XM_011529971.1:c.-1228A>G, XM_011529971.1:c.-1228G>A, NC_000022.10:g.42528568T>C, NC_000022.11:g.42132561C=, XR_952540.1:n.-1213C>T, XR_952536.1:n.122C>T, XR_952536.1:n.122C=, rs57121857, XR_952745.1:n.-618A>G, XR_952745.1:n.-618G>A, NG_008376.4:g.3250G>A +PA166156064 rs1080985 PA128 CYP2D6 NC_000022.11:42132375 6 2 0 0 0 XM_011529967.1:c.-1045-539C>G, XM_011529967.1:c.-1045-539G>C, XR_952539.1:n.40+185C>G, XR_952539.1:n.40+185G>C, XR_952537.1:n.-65C>G, XR_952537.1:n.-65G>C, NC_000022.10:g.42528382C=, 61604987, NG_008376.4:g.3436=, NC_000022.11:g.42132375G=, XM_005278353.1:c.-1587C>G, XM_005278353.1:c.-1587G>C, rs1080985, 1080985, NC_000022.11:g.42132375G>A, NG_008376.4:g.3436C>T, NC_000022.10:g.42528382C>G, NW_009646208.1:g.17943G>C, NG_008376.3:g.2617C=, NG_055460.1:g.1660=, NC_000022.11:g.42132375=, NC_000022.10:g.42528382C>A, NG_055460.1:g.1660G>T, NG_008376.4:g.3436C>G, NG_008376.3:g.2617=, NW_004504305.1:g.54705G=, XM_011529966.1:c.-1584C>G, XM_011529966.1:c.-1584G>C, NT_187682.1:g.54721C=, XM_011529968.1:c.-1584G>C, NC_000022.11:g.42132375G>C, XR_952745.1:n.-432C>G, XR_952745.1:n.-432G>C, NG_008376.4:g.3436C>A, XM_011529968.1:c.-1584C>G, NG_055460.1:g.1660G>C, NW_004504305.1:g.54705G>C, XR_952540.1:n.-1399C>G, XR_952540.1:n.-1399G>C, NG_055460.1:g.1660G>A, NG_008376.3:g.2617C>T, XM_011529971.1:c.-1042C>G, XM_011529971.1:c.-1042G>C, NC_000022.11:g.42132375G>T, NM_000106.5:c.-1584C>G, XR_952538.1:n.-65C>G, XR_952538.1:n.-65G>C, NT_187682.1:g.54721C>G, NG_008376.3:g.2617C>A, XM_011547750.1:c.-1047C>G, XM_011547750.1:c.-1047G>C, NG_008376.3:g.2617C>G, XM_011547756.1:c.42+2157C>G, XM_011547756.1:c.42+2157G>C, NC_000022.10:g.42528382C>T, NM_000106.5:c.-1584G>C, rs61604987, XM_011529969.1:c.-1042C>G, XM_011529969.1:c.-1042G>C, NW_009646208.1:g.17943G=, XM_011529970.1:c.-1584C>G, XM_011529970.1:c.-1584G>C, XR_952536.1:n.-65C>G, XR_952536.1:n.-65G>C, XM_011529972.1:c.-1584C>G, XM_011529972.1:c.-1584G>C, NM_001025161.2:c.-1584C>G, NM_001025161.2:c.-1584G>C, XR_430455.2:n.650C>G, XR_430455.2:n.650G>C +PA166156065 rs1080989 PA128 CYP2D6 NC_000022.11:42131791 1 0 0 0 0 XM_011547756.1:c.42+1568C>T, XM_011529969.1:c.-458G>A, NT_187682.1:g.54132C=, XM_011529969.1:c.-458G=, NC_000022.10:g.42527793C=, XR_952745.1:n.158G>A, NG_055460.1:g.1076C>T, XR_430455.2:n.329-263T>C, XM_011529972.1:c.-1000G>A, XM_011529966.1:c.-1000G>A, XM_011529970.1:c.-1000G>A, XR_952537.1:n.-652T>C, XR_952539.1:n.-363T>C, XM_011529968.1:c.-1000G>A, XM_011529972.1:c.-1000G=, XM_011547750.1:c.-458G>A, XR_952536.1:n.-652T>C, NC_000022.11:g.42131791=, rs1080989, XM_011529970.1:c.-1000G=, XR_952538.1:n.-652T>C, NW_004504305.1:g.54118T>C, NW_009646208.1:g.17357T>C, NG_008376.4:g.4020G>A, XM_011529971.1:c.-458G=, NG_008376.4:g.4020=, XR_952540.1:n.-1986C>T, XM_011547756.1:c.42+1568T>C, XM_011547750.1:c.-458G=, XR_430455.2:n.329-263C>T, NG_008376.3:g.3201=, XR_952745.1:n.158G=, NG_008376.3:g.3201G>A, NW_004504305.1:g.54118T=, NG_008376.3:g.3201G=, XM_011529967.1:c.-1000G>A, XR_952537.1:n.-652C>T, XR_952539.1:n.-363C>T, XM_011529971.1:c.-458G>A, NT_187682.1:g.54132C>T, XM_005278353.1:c.-1000A>G, XM_005278353.1:c.-1000G>A, XR_952536.1:n.-652C>T, 1080989, NW_009646208.1:g.17357T=, XR_952538.1:n.-652C>T, NC_000022.11:g.42131791C>T, XM_011529966.1:c.-1000G=, NG_055460.1:g.1076=, XM_011529968.1:c.-1000G=, NC_000022.11:g.42131791C=, NC_000022.10:g.42527793=, NM_001025161.2:c.-1000A>G, NM_001025161.2:c.-1000G>A, XM_011529967.1:c.-1000G=, NC_000022.10:g.42527793C>T, NM_000106.5:c.-1000A>G, NM_000106.5:c.-1000G>A, XR_952540.1:n.-1986T>C +PA166157816 rs10811661 NC_000009.12:22134095 2 1 0 0 0 rs60839437, 111169537, 10811661, NC_000009.12:g.22134095T>C, NC_000009.12:g.22134095T>A, 56432185, NC_000009.11:g.22134094T>C, NC_000009.11:g.22134094T>A, NC_000009.12:g.22134095=, NC_000009.11:g.22134094=, rs10811661, 60839437, rs56432185, rs111169537 +PA166285341 rs10814270 PA36547 TLN1 NC_000009.12:35704153 1 0 0 0 0 rs10814270, 10814270, NC_000009.12:g.35704153C>G, NC_000009.12:g.35704153C>T, NC_000009.11:g.35704150C>G, NC_000009.11:g.35704150C>T, NC_000009.11:g.35704150=, NC_000009.12:g.35704153=, NP_006280.3:p.Ala2023= +PA166157817 rs10815019 PA35826,PA134880636 SLC1A1,SPATA6L NC_000009.12:4547288 1 0 0 0 0 rs59895460, XM_011518008.1:c.241+2581A>G, 10815019, XM_011518009.1:c.172+2581A>G, NG_017044.1:g.61862A>T, NC_000009.12:g.4547288=, NC_000009.11:g.4547288A>C, rs10815019, NC_000009.12:g.4547288A>C, rs56618216, XM_011518007.1:c.301+2581A>G, NC_000009.12:g.4547288A>G, 59895460, NG_017044.1:g.61862=, NC_000009.11:g.4547288A>G, XM_011518010.1:c.92-14161A>G, NC_000009.11:g.4547288=, 56618216, NC_000009.11:g.4547288A>T, NG_017044.1:g.61862A>G, NM_004170.5:c.232+2581A>G, NC_000009.12:g.4547288A>T, NG_017044.1:g.61862A>C +PA166179458 rs10817464 PA118 SLC31A1 NC_000009.12:113230217 2 1 0 0 0 NC_000009.12:g.113230217=, NC_000009.12:g.113230217T>A, 10817464, NC_000009.12:g.113230217T>C, NC_000009.11:g.115992497T>C, rs10817464, NC_000009.11:g.115992497T>A, NC_000009.11:g.115992497= +PA166179474 rs10817465 PA118 SLC31A1 NC_000009.12:113243503 1 0 0 0 0 60125418, NC_000009.12:g.113243503C>T, NC_000009.12:g.113243503C>G, 10817465, rs10817465, NC_000009.11:g.116005783C>G, NC_000009.11:g.116005783=, NC_000009.11:g.116005783C>T, 17830788, NC_000009.12:g.113243503= +PA166156977 rs1081848 PA36708 TRAF1 NC_000006.12:83799353 1 0 0 0 0 NC_000006.11:g.84509072G>C, 1081848, NC_000006.11:g.84509072=, rs1081848, NC_000006.12:g.83799353G>T, rs1171679, NC_000006.11:g.84509072G>T, 1171679, 1171530, NC_000006.12:g.83799353=, NC_000006.12:g.83799353G>A, rs1171530, NC_000006.12:g.83799353G>C, NC_000006.11:g.84509072G>A +PA166157818 rs10819043 PA142671748 GAPVD1 NC_000009.12:125274966 1 1 0 0 0 XM_006717044.2:c.-33+5982C>T, XM_005251903.1:c.-33+5982C>T, XM_005251902.1:c.-150+5982C>T, XM_011518502.1:c.-33+5982C>T, NC_000009.11:g.128037245C>T, XM_011518507.1:c.-33+5982C>T, XM_011518505.1:c.-34+11265C>T, XM_011518499.1:c.-33+5982C>T, XM_005251904.2:c.-33+5982C>T, XM_005251901.2:c.-33+5982C>T, 10819043, NM_015635.3:c.-33+13007C>T, XM_005251901.1:c.-33+5982C>T, XM_005251904.1:c.-33+5982C>T, NC_000009.12:g.125274966=, XM_011518506.1:c.-33+5982C>T, NC_000009.11:g.128037245=, XM_011518504.1:c.-33+17837C>T, NM_001282679.1:c.-150+5982C>T, XM_005251900.1:c.-150+5982C>T, NC_000009.12:g.125274966C>T, rs59535510, XM_005251899.1:c.-150+5982C>T, XM_011518508.1:c.-34+13006C>T, XM_011518501.1:c.-33+5982C>T, NM_001282680.1:c.-150+5982C>T, XM_011518500.1:c.-150+5982C>T, XM_011518503.1:c.-125+14073C>T, 59535510, rs10819043 +PA166154117 rs10821936 PA134943193 ARID5B NC_000010.11:61963818 3 2 0 0 0 NC_000010.10:g.63723577C>T, 58668073, NC_000010.11:g.61963818C>A, NG_030027.1:g.67565=, NG_030027.1:g.67565C>T, rs57005548, XM_011540262.1:c.502+23410C>T, NC_000010.10:g.63723577C>A, NC_000010.10:g.63723577=, 10821936, NM_032199.2:c.502+23410C>T, NC_000010.11:g.61963818=, XM_005270215.1:c.247+23410C>T, rs10821936, NC_000010.11:g.61963818C>T, 57005548, NG_030027.1:g.67565C>A, rs58668073 +PA166160852 rs10824095 PA24579 ADK NC_000010.11:74176853 1 0 0 0 0 NC_000010.11:g.74176853=, NC_000010.10:g.75936611C>G, NG_030484.1:g.30669=, NC_000010.11:g.74176853C>G, NG_030484.1:g.30669C>T, rs10824095, NG_030484.2:g.30669C>G, NG_030484.2:g.30669=, NC_000010.11:g.74176853C>T, NC_000010.10:g.75936611C>T, NC_000010.10:g.75936611=, NG_030484.2:g.30669C>T, 10824095, NG_030484.1:g.30669C>G +PA166154437 rs10835210 PA31891,PA134953249 BDNF,BDNF-AS NC_000011.10:27674363 4 1 0 0 0 XR_242807.1:n.507-1214C>A, NC_000011.10:g.27674363=, NR_033313.1:n.585+15135C>A, NM_001143807.1:c.-21-15778G>T, NM_170731.4:c.4-15778G>T, NC_000011.10:g.27674363C>A, NM_001143806.1:c.-21-15778G>T, NM_001143811.1:c.-421-21G>T, NG_011794.1:g.52696=, NC_000011.10:g.27674363C>G, NM_001143810.1:c.-58-21G>T, NC_000011.9:g.27695910=, NR_033314.1:n.655-2619C>A, NR_033315.1:n.586-2619C>A, XR_242808.1:n.504-1214C>A, NM_001143814.1:c.-128-15437G>T, NC_000011.9:g.27695910C>G, XM_005253060.1:c.-79G>T, NM_001143805.1:c.-21-15778G>T, XR_242809.1:n.282-1214C>A, NM_170732.4:c.-21-15778G>T, NM_170733.3:c.-21-15778G>T, 60037280, NG_011794.1:g.52696G>C, 10835210, NM_001143812.1:c.-21-15778G>T, NM_001709.4:c.-21-15778G>T, NR_033312.1:n.586-1214C>A, rs17309902, 17309902, XM_011520280.1:c.-79G>T, NM_001143808.1:c.-21-15778G>T, NM_001143809.1:c.67-15778G>T, NR_002832.2:n.655-934C>A, rs10835210, NG_011794.1:g.52696G>T, NM_170734.3:c.25-15778G>T, NC_000011.9:g.27695910C>A, NM_001143813.1:c.-21-15778G>T, rs60037280 +PA166154438 rs10836235 PA26099 CAT NC_000011.10:34439157 1 1 0 0 0 NG_013339.1:g.5233=, NG_013339.2:g.5233=, 10836235, NG_013339.1:g.5233C>T, NC_000011.9:g.34460704C>T, NC_000011.10:g.34439157=, 17886119, rs17886119, NC_000011.9:g.34460704C>G, NC_000011.10:g.34439157C>G, NG_013339.2:g.5233C>G, NC_000011.9:g.34460704=, NG_013339.1:g.5233C>G, NM_001752.3:c.66+78C>T, rs10836235, NC_000011.10:g.34439157C>T, NG_013339.2:g.5233C>T +PA166209022 rs10840489 PA351 TH NC_000011.10:2171568 1 0 0 0 0 10840489, NG_008128.1:g.5238G>A, rs10840489, NG_008128.1:g.5238=, 60592056, NC_000011.10:g.2171568=, NC_000011.9:g.2192798C>T, NC_000011.9:g.2192798=, NC_000011.10:g.2171568C>T +PA166208982 rs10840490 PA351 TH NC_000011.10:2172587 1 0 0 0 0 10840490, NG_008128.1:g.4219=, NC_000011.9:g.2193817C>T, NC_000011.10:g.2172587C>T, NC_000011.9:g.2193817=, NC_000011.9:g.2193817C>G, NC_000011.10:g.2172587C>G, NG_008128.1:g.4219G>C, NG_008128.1:g.4219G>A, rs10840490, NC_000011.10:g.2172587= +PA166165178 rs10840501 PA147357120 ZBED5 NC_000011.10:10852388 1 0 0 0 0 NC_000011.10:g.10852388=, 10840501, NC_000011.10:g.10852388A>G, 59643233, rs10840501, NC_000011.9:g.10873935=, NC_000011.9:g.10873935A>G, 60383258 +PA166154617 rs10841661 PA35844 SLCO1B3 NC_000012.12:20831898 1 0 0 0 0 XM_005253347.1:c.84+16076C>T, NG_032071.1:g.26195=, rs10841661, NC_000012.11:g.20984832C>T, NM_019844.3:c.84+16076C>T, NG_032071.1:g.26195C>T, 60957758, 10841661, NC_000012.12:g.20831898=, NC_000012.11:g.20984832=, NC_000012.12:g.20831898C>T, rs60957758 +PA166170701 rs10841753 PA134865839 SLCO1B1 NC_000012.12:21168436 5 1 0 0 0 NC_000012.11:g.21321370T>A, NC_000012.11:g.21321370=, NC_000012.11:g.21321370T>C, NC_000012.12:g.21168436T>A, 10841753, 56978556, NG_011745.1:g.42243T>C, rs10841753, NC_000012.12:g.21168436T>C, NG_011745.1:g.42243T>A, NG_011745.1:g.42243=, NC_000012.12:g.21168436= +PA166154618 rs10841795 PA328 SLCO1A2 NC_000012.12:21334610 3 0 0 0 0 NM_134431.3:c.38T>C, XM_011520819.1:c.38T>C, NC_000012.11:g.21487544=, XM_005253475.1:c.38T>C, XP_011519121.1:p.Ile13Thr, NP_066580.1:p.Ile13Thr, NC_000012.12:g.21334610A>G, NC_000012.11:g.21487544A>G, NM_021094.3:c.38T>C, XP_005253531.1:p.Ile13Thr, 57921276, XP_005253533.1:p.Ile13Thr, XP_011519120.1:p.Ile13Thr, NP_602307.1:p.Ile13=, XP_005253532.1:p.Ile13Thr, rs52792469, 10841795, XM_005253474.3:c.38T>C, rs57921276, NP_602307.1:p.Ile13Thr, XM_005253476.1:c.38T>C, rs10841795, XM_011520818.1:c.38T>C, XM_005253474.1:c.38T>C, NC_000012.12:g.21334610=, 52792469 +PA166160587 rs10846744 PA97 SCARB1 NC_000012.12:124827879 1 1 0 0 0 rs10846744, NC_000012.11:g.125312425=, 52793381, NC_000012.12:g.124827879=, NC_000012.11:g.125312425G>C, 10846744, NG_028199.1:g.41095=, NG_028199.1:g.41095C>G, NC_000012.12:g.124827879G>C, 56493107 +PA166154620 rs10848635 PA83 CACNA1C NC_000012.12:2207029 2 1 0 0 0 NC_000012.11:g.2316195T>C, NM_001129831.1:c.477+86599T>A, NM_000719.6:c.477+86599T>A, NM_001129840.1:c.477+86599T>A, XM_005253780.1:c.486+86599T>A, XM_011521020.1:c.567+86599T>A, XM_005253773.1:c.486+86599T>A, NM_001167624.2:c.477+86599T>A, NM_001129830.1:c.477+86599T>A, rs60528912, XM_006719017.1:c.567+86599T>A, NG_008801.2:g.241244T>A, XM_005253772.1:c.486+86599T>A, NC_000012.11:g.2316195T>A, XM_005253781.1:c.486+86599T>A, NM_001129839.1:c.477+86599T>A, XM_005253770.1:c.486+86599T>A, XM_005253775.1:c.486+86599T>A, NM_001129842.1:c.477+86599T>A, NM_001129834.1:c.477+86599T>A, NG_008801.2:g.241244T>C, XM_005253767.1:c.486+86599T>A, NC_000012.12:g.2207029=, NM_199460.3:c.477+86599T>A, NM_001129829.1:c.477+86599T>A, NM_001129832.1:c.477+86599T>A, NC_000012.11:g.2316195=, XM_005253778.1:c.486+86599T>A, NG_008801.2:g.241244=, XM_011521018.1:c.-642+86599T>A, NM_001129837.1:c.477+86599T>A, XM_005253783.1:c.486+86599T>A, rs10848635, XM_005253769.1:c.486+86599T>A, NM_001129836.1:c.477+86599T>A, XM_011521022.1:c.477+86599T>A, NM_001129844.1:c.477+86599T>A, NM_001129830.2:c.477+86599T>A, XM_005253777.1:c.486+86599T>A, NM_001129827.1:c.477+86599T>A, NM_001167625.1:c.477+86599T>A, XM_005253786.1:c.486+86599T>A, 60528912, XM_011521023.1:c.477+86599T>A, NM_001129843.1:c.477+86599T>A, XM_005253768.1:c.486+86599T>A, NM_001129835.1:c.477+86599T>A, XM_005253776.1:c.486+86599T>A, XM_005253785.1:c.486+86599T>A, NM_001129838.1:c.477+86599T>A, NM_001167623.1:c.477+86599T>A, XM_005253771.1:c.486+86599T>A, XM_005253784.1:c.486+86599T>A, XM_005253782.1:c.486+86599T>A, 10848635, XM_005253787.1:c.486+86599T>A, XM_005253774.1:c.486+86599T>A, XM_005253779.1:c.486+86599T>A, NM_001129846.1:c.477+86599T>A, XM_005253765.1:c.567+86599T>A, XM_005253766.1:c.486+86599T>A, NC_000012.12:g.2207029T>A, NM_001129833.1:c.477+86599T>A, XM_011521021.1:c.477+86599T>A, NC_000012.12:g.2207029T>C, NM_001129841.1:c.477+86599T>A +PA166154929 rs10851907 PA26496 CHRNB4 NC_000015.10:78623522 1 1 0 0 0 NG_016143.1:g.2774=, XM_011521193.1:c.*1433C>T, rs10851907, NC_000015.9:g.78915864=, rs59955579, NC_000015.10:g.78623522=, NC_000015.9:g.78915864G>A, NC_000015.10:g.78623522G>A, 59955579, NG_016143.1:g.2774C>T, 10851907 +PA166155456 rs10853728 NC_000019.10:39254506 2 1 0 0 0 NG_030284.3:g.976G>A, NC_000019.9:g.39745146=, rs59125921, rs386431231, NC_000019.10:g.39254506C>G, NC_000019.9:g.39745146C>T, NG_030284.3:g.976=, rs10853728, NC_000019.10:g.39254506C>A, NG_030284.3:g.976G>C, 10853728, 59125921, NC_000019.10:g.39254506=, NC_000019.9:g.39745146C>G, 386431231, NC_000019.10:g.39254506C>T, NG_030284.3:g.976G>T, NC_000019.9:g.39745146C>A +PA166157819 rs10858173 PA38725 KCNT1 NC_000009.12:135789055 1 0 0 0 0 NC_000009.12:g.135789055=, NG_033070.1:g.91871T>A, XM_011518881.1:c.3055+893T>C, NG_033070.1:g.91871T>C, XM_011518878.1:c.3646+2534T>C, NM_020822.2:c.3502+2534T>C, XM_011518880.1:c.3466+893T>C, 10858173, NM_001272003.1:c.3430+893T>C, XM_005263407.1:c.3565+893T>C, 57555932, NG_033070.1:g.91871=, NC_000009.12:g.135789055T>A, NC_000009.12:g.135789055T>C, XM_011518877.1:c.3700+893T>C, XM_011518879.1:c.3637+2534T>C, rs10858173, NC_000009.11:g.138680901=, NC_000009.11:g.138680901T>A, NC_000009.11:g.138680901T>C, rs57555932 +PA166160411 rs10865246 PA31786 NRXN1 NC_000002.12:50443116 1 0 0 0 0 NC_000002.11:g.50670254C>A, NC_000002.12:g.50443116C>T, rs10865246, NG_011878.1:g.594421G>T, NG_011878.1:g.594421=, 60132411, 60976936, NC_000002.11:g.50670254=, NC_000002.12:g.50443116=, NC_000002.12:g.50443116C>A, NC_000002.11:g.50670254C>T, NG_011878.1:g.594421G>A, 10865246 +PA166156437 rs10865710 PA281 PPARG NC_000003.12:12311699 1 0 0 0 0 XM_011533841.1:c.-3+22565C>G, 60017626, NC_000003.12:g.12311699=, XM_011533844.1:c.-76-681C>G, rs10865710, NG_011749.1:g.28850C>G, XM_011533840.1:c.-757C>G, NM_138711.3:c.-76-681C>G, rs60017626, NC_000003.11:g.12353198C>G, NM_005037.5:c.-3+23679C>G, NG_011749.1:g.28850=, NM_138712.3:c.-76-681C>G, 10865710, NC_000003.11:g.12353198=, NC_000003.12:g.12311699C>G +PA166156438 rs10865801 PA34226,PA36672 RARB,TOP2B NC_000003.12:24888311 1 0 0 0 0 NC_000003.12:g.24888311=, 10865801, XR_245195.1:n.136+29559C>A, NC_000003.11:g.24929802=, rs10865801, NG_029013.3:g.63989C>A, rs60718662, NC_000003.11:g.24929802C>A, XR_245195.2:n.139+29559C>A, NC_000003.12:g.24888311C>A, 60718662, NG_029013.3:g.63989= +PA166157820 rs10868138 PA426 SLC28A3 NC_000009.12:84302386 4 0 0 0 0 XM_011518909.1:c.422A>G, XP_011517211.1:p.Tyr141Cys, 52792697, NP_071410.1:p.Tyr113=, NC_000009.11:g.86917301T>C, XP_011517209.1:p.Tyr30Cys, NP_071410.1:p.Tyr113Cys, XM_011518906.1:c.422A>G, XM_011518907.1:c.89A>G, XP_011517212.1:p.Tyr141Cys, XM_011518905.1:c.422A>G, NC_000009.11:g.86917301=, 10868138, XP_011517208.1:p.Tyr141Cys, rs56686947, NM_022127.2:c.338A>G, NP_001186562.1:p.Tyr113Cys, XM_011518910.1:c.422A>G, NM_001199633.1:c.338A>G, rs10868138, XR_929832.1:n.549A>G, 56686947, NC_000009.12:g.84302386T>C, XP_011517207.1:p.Tyr141Cys, NR_037638.2:n.660A>G, NC_000009.12:g.84302386=, rs52792697 +PA166161271 rs10868235 PA31818 NTRK2 NC_000009.12:84878840 1 0 0 0 0 NC_000009.12:g.84878840C>T, NC_000009.11:g.87493755C>T, rs10868235, 56943605, NC_000009.12:g.84878840=, NG_012201.2:g.215290C>T, NG_012201.2:g.215290=, 10868235, NC_000009.11:g.87493755= +PA166155102 rs10871454 PA36236 STX4 NC_000016.10:31036758 4 2 0 0 0 rs10871454, NC_000016.9:g.31048079=, NC_000016.9:g.31048079C>T, NM_004604.4:c.379-1168C>T, NM_001272096.1:c.373-1168C>T, NC_000016.10:g.31036758=, rs58361488, 10871454, NM_001272095.1:c.145-1168C>T, XM_011545925.1:c.-52+997C>T, 58361488, NC_000016.10:g.31036758C>T, XM_005255521.1:c.367-1168C>T +PA166154621 rs10875989 PA24920 AQP2 NC_000012.12:49957292 2 0 0 0 0 NM_000486.5:c.*1684T>C, rs10875989, NG_033883.1:g.797T>C, NC_000012.12:g.49957292T>G, NG_033883.1:g.797T>G, NG_008913.1:g.11552=, NC_000012.12:g.49957292T>C, NG_033883.1:g.797=, NC_000012.11:g.50351075=, NG_008913.1:g.11552T>G, NR_110591.1:n.118-5204A>G, NR_110590.1:n.257-2944A>G, rs59141834, NG_008913.1:g.11552T>C, 10875989, NC_000012.11:g.50351075T>G, NC_000012.12:g.49957292=, NC_000012.11:g.50351075T>C, 59141834 +PA166154622 rs10876844 PA134987112,PA134925224 OR10AE3P,PSMB3P NC_000012.12:55656922 1 0 0 0 0 NC_000012.12:g.55656922C>A, XM_011538339.1:c.-700+2791G>T, NC_000012.11:g.56050706C>A, 10876844, rs10876844, 61345690, rs61345690, NC_000012.12:g.55656922=, NC_000012.11:g.56050706= +PA166154623 rs10877012 PA27099,PA30766 CYP27B1,METTL1 NC_000012.12:57768302 4 2 0 0 0 NG_007076.1:g.3892=, 57118883, NC_000012.12:g.57768302G>C, NG_007076.1:g.3892C>G, NG_047060.1:g.8830C>G, NG_007076.1:g.3892C>A, NG_047060.1:g.8830C>A, NC_000012.11:g.58162085G>T, NM_000785.3:c.-1261C>A, NC_000012.12:g.57768302=, 10877012, XM_005268873.1:c.*694C>A, NM_005371.5:c.*694C>A, rs57118883, NC_000012.12:g.57768302G>T, NC_000012.11:g.58162085=, NM_023033.3:c.*872C>A, NG_047060.1:g.8830=, rs10877012, NC_000012.11:g.58162085G>C +PA166154624 rs10878232 PA38291 WIF1 NC_000012.12:65128867 1 1 0 0 0 10878232, NC_000012.11:g.65522647T>A, NC_000012.12:g.65128867=, NC_000012.11:g.65522647T>C, NC_000012.12:g.65128867T>G, NC_000012.11:g.65522647=, NC_000012.11:g.65522647T>G, NC_000012.12:g.65128867T>A, NC_000012.12:g.65128867T>C, rs10878232 +PA166154625 rs10879346 PA128747823 TPH2 NC_000012.12:71958055 1 1 0 0 0 NC_000012.11:g.72351835=, NG_008279.1:g.24210C>T, XM_011537899.1:c.14+8400C>T, XR_245894.1:n.613-3498C>T, 10879346, NC_000012.12:g.71958055=, NC_000012.11:g.72351835C>T, rs10879346, XM_005268642.1:c.626+8400C>T, XR_245894.2:n.709-3498C>T, 59716601, rs59716601, NC_000012.12:g.71958055C>T, NG_008279.1:g.24210=, NM_173353.3:c.608+8400C>T +PA166321801 rs10882521 PA125 CYP2C8 NC_000010.11:95057540 1 0 0 0 0 NC_000010.11:g.95057540=, 10882521, NC_000010.10:g.96817297G>C, NC_000010.11:g.95057540G>T, NG_007972.1:g.16958C>G, 59672987, rs10882521, NC_000010.10:g.96817297=, NG_007972.1:g.16958=, NG_007972.1:g.16958C>A, NC_000010.10:g.96817297G>T, NC_000010.11:g.95057540G>C, 386515744 +PA166265041 rs10882526 PA125 CYP2C8 NC_000010.11:95068744 1 0 0 0 0 NG_007972.1:g.5754=, NC_000010.10:g.96828501A>G, rs10882526, 10882526, NC_000010.11:g.95068744=, NG_007972.1:g.5754T>C, NC_000010.11:g.95068744A>G, NC_000010.10:g.96828501= +PA166154118 rs10883617 PA25465 BTRC NC_000010.11:101353278 1 0 0 0 0 NM_001256856.1:c.-903T>C, rs60094975, XR_428727.1:n.-836T>C, 60094975, 10883617, NC_000010.11:g.101353278T>C, NC_000010.11:g.101353278=, NM_003939.4:c.-903T>C, NM_033637.3:c.-903T>C, NC_000010.10:g.103113035T>C, rs10883617, NG_009234.1:g.4211T>C, XM_006718054.2:c.-903T>C, NG_009234.1:g.4211=, NC_000010.10:g.103113035= +PA166165028 rs10883841 PA31801 NT5C2 NC_000010.11:103174952 1 0 0 0 0 10883841, NC_000010.10:g.104934709T>C, NC_000010.10:g.104934709T>G, NC_000010.11:g.103174952T>C, NG_042272.1:g.23355A>C, NP_036361.1:p.Thr3Ala, NC_000010.11:g.103174952T>G, 57885563, NG_042272.1:g.23355=, rs10883841, 17734400, 52813987, NP_036361.1:p.Thr3Pro, NG_042272.1:g.23355A>G, NC_000010.11:g.103174952=, NC_000010.10:g.104934709=, NP_036361.1:p.Thr3= +PA166201504 rs10885 PA25263 PRRC2A NC_000006.12:31636814 1 1 0 0 0 NC_000006.12:g.31636814=, NP_004629.3:p.Pro2006=, 17342597, NC_000006.12:g.31636814C>T, 3173341, 117783505, NP_004629.3:p.Pro2006Ser, NC_000006.11:g.31604591=, NC_000006.11:g.31604591C>T, 115201868, rs10885, 17207260, 3817660, 10885, 1046121, 17354298 +PA166154119 rs10886342 PA27699 EIF3A NC_000010.11:118931320 1 0 0 0 0 386515769, 60264377, NC_000010.10:g.120690832G>A, NC_000010.11:g.118931320=, rs386515769, 10886342, NC_000010.11:g.118931320G>A, NC_000010.10:g.120690832=, rs60264377, rs10886342 +PA166154439 rs10895256 PA38103 YAP1 NC_000011.10:102107673 1 0 0 0 0 NC_000011.10:g.102107673T>A, NC_000011.10:g.102107673T>C, NC_000011.10:g.102107673T>G, NG_029530.1:g.2213T>A, NC_000011.10:g.102107673=, NG_029530.1:g.2213T>C, NG_029530.2:g.2213T>G, NG_029530.2:g.2213T>A, NG_029530.1:g.2213T>G, 10895256, 57332716, NG_029530.2:g.2213=, NG_029530.2:g.2213T>C, NC_000011.9:g.101978404T>A, NG_029530.1:g.2213=, NC_000011.9:g.101978404T>C, NC_000011.9:g.101978404=, NC_000011.9:g.101978404T>G, rs57332716, rs10895256 +PA166154440 rs10898563 PA28459,PA134952846 FZD4,PRSS23 NC_000011.10:86948171 3 0 0 0 0 NC_000011.9:g.86659213=, NR_120592.1:n.630-3045A>G, NG_011752.1:g.12221=, rs57097561, 56551129, 10898563, NR_120591.1:n.737-2185A>G, NC_000011.10:g.86948171A>G, NC_000011.9:g.86659213A>G, XM_005274341.1:c.*2971T>C, NC_000011.10:g.86948171=, rs10898563, NM_012193.3:c.*2971T>C, rs56551129, NG_011752.1:g.12221T>C, 57097561 +PA166154441 rs10898815 PA31844 NUMA1 NC_000011.10:72028377 2 1 0 0 0 XM_011545061.1:c.128+828C>T, rs10898815, XM_011545058.1:c.128+828C>T, XM_006718564.1:c.128+828C>T, 59653244, XM_011545065.1:c.128+828C>T, NC_000011.10:g.72028377G>A, XM_011545054.1:c.128+828C>T, XM_011545062.1:c.128+828C>T, NC_000011.9:g.71739423=, 10898815, NM_001286561.1:c.128+828C>T, XM_011545057.1:c.128+828C>T, NR_104476.1:n.385+828C>T, XM_011545066.1:c.128+828C>T, NC_000011.9:g.71739423G>A, XM_011545055.1:c.128+828C>T, NM_006185.3:c.128+828C>T, XM_011545063.1:c.128+828C>T, NC_000011.10:g.72028377=, XM_005274016.1:c.128+828C>T, XM_011545056.1:c.128+828C>T, XM_011545060.1:c.128+828C>T, XM_011545059.1:c.128+828C>T, XM_011545064.1:c.128+828C>T, rs59653244 +PA166157821 rs10901080 PA162376926 ASS1 NC_000009.12:130483269 1 0 0 0 0 XM_005272201.1:c.487+2820G>T, NC_000009.11:g.133358656=, NC_000009.11:g.133358656G>A, NC_000009.12:g.130483269=, NM_000050.4:c.838+2820G>T, XM_005272199.1:c.934+2820G>T, rs58692055, XM_005272200.1:c.838+2820G>T, 10901080, NC_000009.12:g.130483269G>C, NG_011542.1:g.43563=, NC_000009.11:g.133358656G>T, NC_000009.12:g.130483269G>A, NG_011542.1:g.43563G>C, NG_011542.1:g.43563G>A, XM_005272200.2:c.838+2820G>T, rs10901080, NM_054012.3:c.838+2820G>T, NC_000009.12:g.130483269G>T, NG_011542.1:g.43563G>T, XM_011518705.1:c.952+2820G>T, NC_000009.11:g.133358656G>C, 58692055 +PA166153811 rs10903129 PA142670773 MACO1 NC_000001.11:25442446 1 0 0 0 0 XM_005245931.1:c.81-4316A>G, XM_011541704.1:c.-531-4316A>G, XM_005245933.1:c.80+11268A>G, rs60964820, NM_001282564.1:c.81-4316A>G, rs10903129, NC_000001.10:g.25768937=, NC_000001.10:g.25768937A>G, 17537348, NC_000001.11:g.25442446A>G, XM_005245932.1:c.81-4316A>G, 56639081, NC_000001.11:g.25442446=, 60964820, NM_018202.5:c.81-4316A>G, rs17537348, 10903129, rs56639081 +PA166159084 rs10907653 NC_000009.12:42172001 1 0 0 0 0 NC_000009.11:g.43642388T>C, 10907653, NC_000009.11:g.43642388T>A, NC_000009.12:g.42172001A>G, NC_000009.11:g.43642388=, NC_000009.12:g.42172001=, NC_000009.12:g.42172001A>C, NC_000009.12:g.42172001A>T, rs10907653, NC_000009.11:g.43642388T>G +PA166266702 rs10908521 PA29899,PA31817 INSRR,NTRK1 NC_000001.11:156843858 1 1 0 0 0 NG_007493.1:g.33109=, NC_000001.11:g.156843858T>C, NC_000001.10:g.156813650T>C, NC_000001.11:g.156843858=, 10908521, 57502272, rs10908521, 56419337, NC_000001.10:g.156813650=, NG_007493.1:g.33109T>C +PA166153812 rs10908703 PA28056 FCER1A NC_000001.11:159282212 1 0 0 0 0 rs10908703, NC_000001.11:g.159282212G>A, NM_002001.3:c.-1782G>A, rs59154953, 59154953, NC_000001.11:g.159282212=, NC_000001.10:g.159252002G>A, NC_000001.10:g.159252002=, 10908703 +PA166153813 rs10912675 PA165 FMO1 NC_000001.11:171258077 1 1 0 0 0 NP_001269621.1:p.Met1=, XM_006711242.2:c.-6-5T>C, NM_001282692.1:c.2T>C, 59923196, rs59923196, XM_005245035.1:c.-6-5T>C, 10912675, XM_006711241.2:c.-6-5T>C, NP_001269621.1:p.Met1Thr, XM_005245038.1:c.-6-5T>C, NC_000001.10:g.171227216=, NM_002021.2:c.-6-5T>C, NC_000001.10:g.171227216T>C, NC_000001.11:g.171258077T>C, XM_005245034.1:c.-6-5T>C, NM_001282694.1:c.-6-5T>C, XM_005245038.2:c.-6-5T>C, NC_000001.11:g.171258077=, rs10912675, NM_001282693.1:c.-6-5T>C +PA166163237 rs10916825 PA98 CDA NC_000001.11:20605281 2 0 0 0 0 NC_000001.10:g.20931774A>G, NC_000001.10:g.20931774=, NC_000001.11:g.20605281A>T, NC_000001.11:g.20605281A>G, 10916825, NC_000001.11:g.20605281=, rs10916825, NC_000001.10:g.20931774A>T +PA166153814 rs10916852 PA142670927 SH2D5 NC_000001.11:20726200 1 1 0 0 0 NM_001103160.1:c.-9-134C>A, 10916852, rs58177823, XM_011541459.1:c.244-134C>A, XM_011541461.1:c.244-134C>A, NC_000001.10:g.21052693G>T, NC_000001.11:g.20726200=, NC_000001.11:g.20726200G>T, rs10916852, 58177823, XM_011541462.1:c.244-134C>A, NM_001103161.1:c.244-134C>A, XM_011541460.1:c.244-134C>A, NC_000001.10:g.21052693= +PA166153815 rs10917670 PA34375 RGS4 NC_000001.11:163063052 1 0 0 0 0 NC_000001.10:g.163032842=, rs58027667, NC_000001.11:g.163063052=, rs10917670, NC_000001.11:g.163063052C>T, NC_000001.10:g.163032842C>T, rs36213872, 10917670, 36213872, 58027667 +PA166153816 rs10918594 PA142671259 NOS1AP NC_000001.11:162060898 1 1 0 0 0 NC_000001.10:g.162030688=, NC_000001.11:g.162060898=, NC_000001.10:g.162030688C>G, NC_000001.11:g.162060898C>G, 57640118, rs10918594, rs57640118, 10918594 +PA166153817 rs10919035 PA142671259 NOS1AP NC_000001.11:162274222 2 1 0 0 0 NG_015979.1:g.209432C>G, NG_015979.2:g.209432C>G, NM_001164757.1:c.178-13122C>T, NM_014697.2:c.178-13122C>T, 10919035, 59698906, NC_000001.10:g.162244012C>T, NC_000001.10:g.162244012=, NC_000001.11:g.162274222C>G, NC_000001.11:g.162274222=, NG_015979.1:g.209432=, NG_015979.1:g.209432C>T, NC_000001.11:g.162274222C>T, NG_015979.2:g.209432C>T, NC_000001.10:g.162244012C>G, rs10919035, rs59698906, NG_015979.2:g.209432= +PA166153818 rs10919563 PA34011 PTPRC NC_000001.11:198731313 3 1 0 0 0 NG_007730.1:g.97218=, 10919563, NG_007730.1:g.97218G>T, XM_006711472.2:c.1721-304G>A, NC_000001.11:g.198731313G>T, 61716706, XM_006711473.2:c.1667-304G>A, NM_080921.3:c.1382-304G>A, rs61716706, NC_000001.10:g.198700442G>T, NM_002838.4:c.1865-304G>A, NC_000001.10:g.198700442=, rs10919563, NC_000001.11:g.198731313G>A, NC_000001.10:g.198700442G>A, XM_006711474.2:c.1523-304G>A, NC_000001.11:g.198731313=, NG_007730.1:g.97218G>A +PA166357261 rs10920573 PA24583 ADORA1 NC_000001.11:203139380 1 0 0 0 0 57847696, NC_000001.11:g.203139380=, rs10920573, NC_000001.10:g.203108508=, NC_000001.10:g.203108508T>C, NC_000001.10:g.203108508T>A, 56633569, 10920573, NG_052917.1:g.16676=, NC_000001.11:g.203139380T>A, NG_052917.1:g.16676T>C, NC_000001.11:g.203139380T>C, NG_052917.1:g.16676T>A +PA166155794 rs10929302 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233757136 20 2 0 0 0 rs10929302, XR_241240.1:n.1023-9898G>A, NM_007120.2:c.868-9898G>A, NC_000002.12:g.233757136=, NM_021027.2:c.856-9898G>A, NM_019076.4:c.856-9898G>A, XR_241238.1:n.924-9898G>A, NG_033238.1:g.1864=, NM_019093.2:c.868-9898G>A, NC_000002.12:g.233757136G>A, XR_241241.1:n.942-9898G>A, NR_037695.1:n.-1791C>T, NG_033238.1:g.1864G>A, NR_037694.1:n.-1791C>T, NM_205862.1:c.61-9898G>A, NM_019075.2:c.856-9898G>A, NM_019078.1:c.868-9898G>A, NR_037696.1:n.-1791C>T, 10929302, NC_000002.11:g.234665782G>A, NG_002601.2:g.172393=, NM_019077.2:c.856-9898G>A, NM_001072.3:c.862-9898G>A, NC_000002.11:g.234665782=, NG_002601.2:g.172393G>A +PA166155795 rs10929303 PA164720351,PA37173,PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 MROH2A,UGT1A,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233772770 6 3 0 0 0 rs10929303, rs35926297, NG_051337.1:g.2109=, NG_002601.2:g.188027=, NG_002601.2:g.188027T>G, NG_002601.2:g.188027T>C, NM_021027.2:c.*211T>C, 59599681, NC_000002.12:g.233772770=, NC_000002.12:g.233772770T>C, NG_033238.1:g.17498T>C, NM_001072.3:c.*211T>C, NM_019078.1:c.*211T>C, NM_205862.1:c.*211T>C, rs59599681, XR_241238.1:n.2006T>C, XR_241241.1:n.2024T>C, NC_000002.12:g.233772770T>G, NM_019093.2:c.*211T>C, XR_241239.1:n.1969T>C, NM_019075.2:c.*211T>C, NG_033238.1:g.17498T>G, NC_000002.11:g.234681416T>C, XR_241240.1:n.2105T>C, NC_000002.11:g.234681416T>G, NM_007120.2:c.*211T>C, 10929303, 35926297, NM_019076.4:c.*211T>C, NG_051337.1:g.2109T>G, NG_033238.1:g.17498=, NC_000002.11:g.234681416=, NG_051337.1:g.2109T>C, NM_000463.2:c.*211T>C, NM_019077.2:c.*211T>C +PA166288461 rs10929587 PA24512 ADAM17 NC_000002.12:9522691 1 0 0 0 0 NC_000002.11:g.9662820=, rs10929587, 60507727, NG_029873.1:g.38098A>T, NC_000002.11:g.9662820T>A, 10929587, NG_029873.1:g.38098=, 17590965, NC_000002.12:g.9522691T>A, NC_000002.12:g.9522691=, 58826651 +PA166155796 rs10931910 PA24842 AOX1 NC_000002.12:200659013 2 1 0 0 0 rs10931910, NC_000002.12:g.200659013A>T, rs13005946, XM_011511062.1:c.3172-152A>G, NM_001159.3:c.3172-152A>G, NC_000002.11:g.201523736A>C, 10931910, NC_000002.12:g.200659013A>C, NC_000002.11:g.201523736A>G, NC_000002.12:g.200659013=, NC_000002.12:g.200659013A>G, rs59990000, XM_005246506.1:c.1840-152A>G, 13005946, NC_000002.11:g.201523736=, 59990000, NC_000002.11:g.201523736A>T, XR_922913.1:n.3329-152A>G +PA166155797 rs10932125 PA31784 NRP2 NC_000002.12:205787576 3 1 0 0 0 NG_029567.1:g.110077C>G, 17387452, XM_005246933.2:c.2441-4659C>G, XM_005246934.1:c.2441-4659C>G, NC_000002.12:g.205787576C>G, NC_000002.11:g.206652300C>G, NM_003872.2:c.2426-4659C>G, NG_029567.2:g.110077C>G, NM_201266.1:c.2441-4659C>G, NC_000002.11:g.206652300=, XM_005246933.1:c.2441-4659C>G, NC_000002.12:g.205787576=, 10932125, NM_201279.1:c.2426-7178C>G, XM_005246934.2:c.2441-4659C>G, NG_029567.1:g.110077=, XR_923055.1:n.3005-4659C>G, rs10932125, NG_029567.2:g.110077=, rs17387452 +PA166159102 rs10934498 PA378 NR1I2 NC_000003.12:119785534 2 1 0 0 0 NC_000003.12:g.119785534=, NC_000003.12:g.119785534G>C, 58308899, NC_000003.11:g.119504381G>C, NG_011856.1:g.10051G>T, 10934498, NC_000003.11:g.119504381=, NC_000003.11:g.119504381G>T, NC_000003.12:g.119785534G>T, NG_011856.1:g.10051G>A, NG_011856.1:g.10051=, NG_011856.1:g.10051G>C, rs10934498, NC_000003.12:g.119785534G>A, NC_000003.11:g.119504381G>A +PA166156439 rs10935838 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151340459 2 0 0 0 0 NM_053002.5:c.2146-9600A>G, NG_016019.1:g.49298=, XM_011512386.1:c.2251-9600A>G, rs61168076, XM_011512399.1:c.2251-9600A>G, XM_011512393.1:c.2251-9600A>G, NG_016019.1:g.49298T>C, XM_011512395.1:c.2251-9600A>G, NC_000003.12:g.151340459=, NM_022788.4:c.-15+137T>C, NG_021244.1:g.258572A>G, XM_011512387.1:c.2251-9600A>G, XM_011512396.1:c.676-9600A>G, XM_011512391.1:c.1981-9600A>G, rs10935838, XM_011512388.1:c.2251-9600A>G, NM_176876.2:c.-15+137T>C, NC_000003.11:g.151058247=, XM_006713487.2:c.2251-9600A>G, XM_011512389.1:c.2146-9600A>G, XM_011512398.1:c.46-9600A>G, XM_005247096.1:c.2251-9600A>G, 10935838, 61168076, XM_011512390.1:c.2146-9600A>G, NG_021244.1:g.258572=, NC_000003.12:g.151340459A>G, NC_000003.11:g.151058247A>G, XM_011512394.1:c.2251-9600A>G, XM_011512392.1:c.1795-9600A>G +PA166162311 rs10935842 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151386150 1 0 0 0 0 17283017, NG_021244.1:g.304263T>A, NC_000003.11:g.151103938=, NC_000003.12:g.151386150T>G, NC_000003.12:g.151386150=, 10935842, NC_000003.11:g.151103938T>A, NG_016019.1:g.3607A>T, NC_000003.11:g.151103938T>G, NG_021244.1:g.304263=, NG_016019.1:g.3607A>C, NG_021244.1:g.304263T>G, rs10935842, NC_000003.12:g.151386150T>A, NG_016019.1:g.3607= +PA166156440 rs10937158 PA395 ABCC5 NC_000003.12:183990651 1 1 0 0 0 XM_005247061.1:c.130-1268A>G, NM_001023587.2:c.130-1268A>G, 10937158, NC_000003.11:g.183708439=, NR_135125.1:n.316-1268A>G, XM_005247059.3:c.130-1268A>G, XM_011512314.1:c.130-1268A>G, NM_005688.3:c.130-1268A>G, XM_005247062.1:c.-1402-1268A>G, NG_047115.1:g.32360A>C, NG_047115.1:g.32360A>G, rs10937158, NC_000003.12:g.183990651T>C, XM_005247060.1:c.130-1268A>G, NC_000003.12:g.183990651T>A, NC_000003.12:g.183990651T>G, NG_047115.1:g.32360A>T, NG_047115.1:g.32360=, XM_011512315.1:c.130-1268A>G, NM_001320032.1:c.-1402-1268A>G, XM_011512316.1:c.-1402-1268A>G, NC_000003.11:g.183708439T>G, NC_000003.11:g.183708439T>A, NC_000003.11:g.183708439T>C, XM_005247059.1:c.130-1268A>G, XM_005247058.1:c.130-1268A>G, NC_000003.12:g.183990651=, XM_005247058.3:c.130-1268A>G +PA166157171 rs10942981 PA134972608 HOMER1 NC_000006.12:71827489 1 0 0 0 0 rs375214004, NC_000006.11:g.72537192=, rs10942981, 10942981, NC_000006.12:g.71827489=, NC_000006.12:g.71827489T>G, 375214004, NC_000006.11:g.72537192T>G +PA166157172 rs10945919 NC_000006.12:163765645 1 1 0 0 0 NC_000006.11:g.164186677=, NC_000006.12:g.163765645A>G, NC_000006.11:g.164186677A>C, NC_000006.12:g.163765645=, NC_000006.12:g.163765645A>C, rs10945919, NC_000006.11:g.164186677A>G, rs60652994, 10945919, 60652994 +PA166223062 rs10946364 PA134979205 MBOAT1 NC_000006.12:20176991 1 0 0 0 0 NC_000006.12:g.20176991T>A, NC_000006.12:g.20176991=, rs10946364, NC_000006.11:g.20177222T>A, 10946364, 56903099, NC_000006.11:g.20177222= +PA166160680 rs10946737 PA162387677 RIPOR2 NC_000006.12:24967012 2 1 0 0 0 10946737, rs10946737, 17672838, NC_000006.12:g.24967012=, NC_000006.12:g.24967012G>A, NC_000006.11:g.24967240=, NG_051606.1:g.80277=, NC_000006.11:g.24967240G>A, NG_051606.1:g.80277C>T +PA166160685 rs10946739 PA162387677 RIPOR2 NC_000006.12:24992899 1 1 0 0 0 NC_000006.12:g.24992899=, rs10946739, NC_000006.12:g.24992899C>G, NG_051606.1:g.54390G>C, 60115890, NC_000006.12:g.24992899C>T, NC_000006.11:g.24993127C>G, NG_051606.1:g.54390G>A, NC_000006.11:g.24993127=, NC_000006.11:g.24993127C>T, NG_051606.1:g.54390=, 10946739 +PA166159951 rs10948059 PA28794 GNMT NC_000006.12:42960723 2 1 0 0 0 NC_000006.12:g.42960723=, NC_000006.12:g.42960723C>G, NG_008396.1:g.4962=, NG_008396.1:g.4962C>T, rs10948059, NC_000006.11:g.42928461C>G, NC_000006.11:g.42928461C>T, NC_000006.12:g.42960723C>T, NG_008396.1:g.4962C>G, 10948059, NC_000006.11:g.42928461= +PA166170884 rs10950022 PA134931578 VKORC1L1 NC_000007.14:65911469 1 0 0 0 0 rs10950022, 10950022, NG_051954.1:g.43371=, 59673584, NC_000007.14:g.65911469C>T, NC_000007.13:g.65376456=, NC_000007.14:g.65911469=, NC_000007.13:g.65376456C>T, NG_051954.1:g.43371C>T +PA166161511 rs10950831 PA24387 ABCB5 NC_000007.14:20724751 1 0 0 0 0 NC_000007.14:g.20724751G>T, NC_000007.13:g.20764374=, NC_000007.14:g.20724751=, NC_000007.14:g.20724751G>C, NC_000007.13:g.20764374G>C, NC_000007.13:g.20764374G>T, 10950831, 61591658, rs10950831 +PA166160128 rs10952084 PA38657 GLCCI1 NC_000007.14:8077302 1 0 0 0 0 59430371, NC_000007.13:g.8116932C>G, NC_000007.14:g.8077302C>A, NG_032073.1:g.113559C>A, NG_032073.1:g.113559=, rs10952084, NG_032073.1:g.113559C>G, 10952084, NC_000007.14:g.8077302=, NC_000007.13:g.8116932=, NC_000007.13:g.8116932C>A, NC_000007.14:g.8077302C>G +PA166200543 rs10954732 PA33532 POR NC_000007.14:75981831 1 0 0 0 0 rs10954732, 10954732, NC_000007.14:g.75981831G>A, NG_008930.1:g.71730G>A, NC_000007.14:g.75981831=, NC_000007.13:g.75611149G>A, NG_008930.1:g.71730=, NC_000007.13:g.75611149= +PA166157631 rs10954808 NC_000008.11:31622107 1 0 0 0 0 NC_000008.10:g.31479623=, NC_000008.11:g.31622107=, NC_000008.10:g.31479623A>G, NC_000008.11:g.31622107A>G, rs10954808, rs61493401, 61493401, 10954808 +PA166252121 rs10956697 PA37372 CCN4 NC_000008.11:133218539 1 0 0 0 0 NC_000008.11:g.133218539=, NC_000008.11:g.133218539C>A, NC_000008.11:g.133218539C>T, NC_000008.10:g.134230782=, NG_029529.1:g.32501C>A, 10956697, 61531270, NC_000008.10:g.134230782C>T, rs10956697, NG_029529.1:g.32501C>T, NC_000008.10:g.134230782C>A, NG_029529.1:g.32501= +PA166283702 rs10958704 NC_000008.11:38470784 1 1 0 0 0 10958704, NC_000008.10:g.38328302=, NC_000008.10:g.38328302A>G, NG_007729.1:g.3051=, NC_000008.11:g.38470784A>G, NC_000008.11:g.38470784=, rs10958704, NG_007729.1:g.3051T>C +PA166177400 rs10958713 PA29776 IKBKB NC_000008.11:42323198 1 0 0 0 0 58271477, NC_000008.10:g.42180716C>T, 10958713, NC_000008.11:g.42323198=, NC_000008.10:g.42180716=, NG_041793.1:g.56897C>T, NG_041793.1:g.56897=, rs10958713, NC_000008.11:g.42323198C>T +PA166159499 rs10964552 PA30852 MLLT3 NC_000009.12:20405632 1 1 0 0 0 10964552, NC_000009.12:g.20405632C>A, NC_000009.11:g.20405630=, NC_000009.11:g.20405630C>A, rs10964552, NC_000009.12:g.20405632=, 57839949 +PA166157822 rs10965219 PA164717802 CDKN2B-AS1 NC_000009.12:22053688 2 0 0 0 0 NR_047538.1:n.644+4460A>G, NR_047543.1:n.645-2564A>G, rs59766223, NR_047532.1:n.940-2564A>G, 56490405, rs10965219, 59766223, NR_047540.1:n.645-2564A>G, NR_047537.1:n.645-2564A>G, NR_047541.1:n.645-2564A>G, NR_120536.1:n.644+4460A>G, NC_000009.11:g.22053687=, 10965219, 56988721, NR_047534.1:n.644+4460A>G, NR_047535.1:n.645-2564A>G, NC_000009.11:g.22053687A>G, NC_000009.12:g.22053688A>G, rs56490405, rs56988721, NR_047533.1:n.644+4460A>G, NC_000009.12:g.22053688=, NR_047536.1:n.644+4460A>G, NR_003529.3:n.1253-2564A>G, NR_047542.1:n.645-2564A>G, NR_047539.1:n.1253-2564A>G +PA166157823 rs10967942 NC_000009.12:2754177 1 0 0 0 0 rs10967942, NC_000009.11:g.2754177G>A, NC_000009.12:g.2754177G>A, NC_000009.11:g.2754177=, 10967942, NC_000009.12:g.2754177= +PA166159106 rs10971182 PA24915 APTX NC_000009.12:32888827 1 0 0 0 0 10971182, rs10971182, 58952952, NC_000009.12:g.32888827=, NC_000009.12:g.32888827G>A, NC_000009.11:g.32888825=, NC_000009.11:g.32888825G>A +PA166157824 rs10975641 PA28716 GLDC NC_000009.12:6556839 1 1 0 0 0 XM_005251442.1:c.1807-537G>C, rs60728248, rs10975641, NC_000009.12:g.6556839C>G, 60728248, NG_016397.1:g.93854G>A, NC_000009.12:g.6556839=, NC_000009.11:g.6556839C>G, NG_016397.1:g.93854G>C, NG_016397.1:g.93854=, NM_000170.2:c.2053-537G>C, 10975641, NC_000009.12:g.6556839C>T, NC_000009.11:g.6556839C>T, NC_000009.11:g.6556839= +PA166157825 rs10981694 PA162388608,PA118 FKBP15,SLC31A1 NC_000009.12:113224129 2 1 0 0 0 NC_000009.11:g.115986409T>G, rs60407897, 60407897, NM_001859.3:c.-36+2451T>G, NC_000009.12:g.113224129=, rs10981694, NC_000009.12:g.113224129T>G, 10981694, NC_000009.11:g.115986409= +PA166177130 rs10989064 PA134991964 TEX10 NC_000009.12:100349683 1 1 0 0 0 59962678, 111188894, NC_000009.12:g.100349683=, NC_000009.12:g.100349683C>T, NC_000009.11:g.103111965C>T, 10989064, NC_000009.11:g.103111965=, rs10989064 +PA166154120 rs10994982 PA134943193 ARID5B NC_000010.11:61950345 1 1 0 0 0 NC_000010.11:g.61950345A>C, NC_000010.10:g.63710104=, NC_000010.10:g.63710104A>G, NG_030027.1:g.54092A>C, rs10994982, XM_011540262.1:c.502+9937A>G, XM_005270215.1:c.247+9937A>G, NC_000010.11:g.61950345=, 60395283, NG_030027.1:g.54092=, rs60395283, NG_030027.1:g.54092A>G, 10994982, NC_000010.10:g.63710104A>C, NC_000010.11:g.61950345A>G, NM_032199.2:c.502+9937A>G +PA166162510 rs10995 PA37276 VASP NC_000019.10:45526896 1 1 0 0 0 NC_000019.9:g.46030154=, 3170165, 61597005, NG_013332.1:g.62969C>G, NC_000019.9:g.46030154G>A, NC_000019.10:g.45526896G>A, NC_000019.9:g.46030154G>C, NC_000019.10:g.45526896=, NC_000019.10:g.45526896G>C, rs10995, NG_013332.1:g.62969C>T, 10995, NG_013332.1:g.62969= +PA166199005 rs10995311 PA162375713 ADO NC_000010.11:62805174 1 1 0 0 0 16917720, NP_116193.2:p.Pro39=, NC_000010.11:g.62805174=, NP_116193.2:p.Pro39Ala, 10995311, rs10995311, NC_000010.10:g.64564934=, NC_000010.11:g.62805174C>G, NC_000010.10:g.64564934C>G +PA166154121 rs10997242 PA27010 CTNNA3 NC_000010.11:66576537 1 1 0 0 0 XM_011539723.1:c.1443+45155A>G, XM_011539722.1:c.1479+45155A>G, NM_001127384.2:c.1374+45155A>G, rs111442593, 61121964, NC_000010.10:g.68336295T>C, NG_034072.1:g.1124655=, NC_000010.10:g.68336295=, 111442593, XM_011539725.1:c.1443+45155A>G, XM_011539726.1:c.1410+45155A>G, 10997242, NG_034072.1:g.1124655A>G, rs10997242, XM_011539721.1:c.1479+45155A>G, NC_000010.11:g.66576537T>C, rs61591646, NC_000010.11:g.66576537=, XM_005269717.1:c.1410+45155A>G, XM_005269717.2:c.1410+45155A>G, XM_011539724.1:c.1443+45155A>G, rs61121964, NM_013266.3:c.1374+45155A>G, 61591646, XM_011539727.1:c.1374+45155A>G +PA166154122 rs11014166 PA88 CACNB2 NC_000010.11:18419869 2 0 0 0 0 11014166, NC_000010.10:g.18708798A>T, NM_000724.3:c.168+17826A>T, 59431445, NG_016195.1:g.284193A>T, NC_000010.11:g.18419869A>T, NG_016195.1:g.284193=, XM_011519660.1:c.168+17826A>T, rs11014166, NM_201596.2:c.333+17826A>T, NM_201590.2:c.171+17826A>T, NC_000010.11:g.18419869=, XM_005252588.2:c.189+17826A>T, XM_005252587.1:c.171+17826A>T, NM_201571.3:c.249+17826A>T, XM_006717502.2:c.153+17826A>T, XM_005252589.1:c.168+17826A>T, NM_201597.2:c.333+17826A>T, XM_005252588.1:c.189+17826A>T, XM_005252590.1:c.333+17826A>T, XM_011519659.1:c.171+17826A>T, rs17691002, NM_201593.2:c.333+17826A>T, NM_201572.3:c.249+17826A>T, NM_201570.2:c.189+17826A>T, NC_000010.10:g.18708798=, 17691002, rs59431445, NM_001167945.1:c.249+17826A>T +PA166285221 rs11015149 PA134933955 APBB1IP NC_000010.11:26523246 1 0 0 0 0 NC_000010.11:g.26523246=, rs11015149, 57638780, 52828811, NC_000010.10:g.26812175C>A, 11015149, NC_000010.11:g.26523246C>A, NC_000010.10:g.26812175= +PA166154442 rs11022922 PA223 KCNQ1 NC_000011.10:2457965 1 0 0 0 0 11022922, NM_000218.2:c.386+12481C>T, rs11022922, NC_000011.10:g.2457965=, rs60426613, NG_008935.1:g.17975=, NC_000011.10:g.2457965C>T, 60426613, NG_008935.1:g.17975C>T, NC_000011.9:g.2479195=, NC_000011.9:g.2479195C>T +PA166154443 rs11023197 PA34862 RRAS2 NC_000011.10:14359452 1 1 0 0 0 rs11023197, NG_017058.1:g.10055=, NG_017058.1:g.10055C>T, NC_000011.10:g.14359452G>A, XM_005277702.1:c.-917C>T, XM_005277703.1:c.-582C>T, NC_000011.9:g.14380998=, NM_012250.5:c.-582C>T, NW_003871075.1:g.417536G>A, NM_001102669.2:c.-1319C>T, 11023197, NM_001177315.1:c.-1338C>T, XM_005252827.1:c.-917C>T, XM_005252828.1:c.-582C>T, NC_000011.9:g.14380998G>A, NM_001177314.1:c.3+4939C>T, NC_000011.10:g.14359452= +PA166235681 rs11030096 PA134953249 BDNF-AS NC_000011.10:27643996 1 1 0 0 0 NC_000011.9:g.27665543=, NC_000011.10:g.27643996T>C, NC_000011.9:g.27665543T>C, NC_000011.10:g.27643996T>A, 11030096, rs11030096, 17309860, NC_000011.10:g.27643996=, 56495725, 59661567, NC_000011.9:g.27665543T>A +PA166178816 rs11030101 PA31891,PA134953249 BDNF,BDNF-AS NC_000011.10:27659197 1 0 0 0 0 NC_000011.9:g.27680744=, NC_000011.9:g.27680744A>G, 17244140, NC_000011.10:g.27659197A>G, NG_011794.1:g.67862=, NC_000011.9:g.27680744A>T, NG_011794.1:g.67862T>C, NC_000011.10:g.27659197A>T, rs11030101, 11030101, NC_000011.10:g.27659197=, NG_011794.1:g.67862T>A +PA166154444 rs11030104 PA31891,PA134953249 BDNF,BDNF-AS NC_000011.10:27662970 1 1 0 0 0 rs11030104, NM_001143812.1:c.-21-4385T>C, NR_033312.1:n.585+3742A>G, NM_001143808.1:c.-21-4385T>C, XR_242809.1:n.281+3742A>G, NM_170732.4:c.-21-4385T>C, NM_001709.4:c.-21-4385T>C, NR_033315.1:n.585+3742A>G, NC_000011.9:g.27684517A>G, NM_001143810.1:c.226-4385T>C, NM_001143814.1:c.-128-4044T>C, NM_001143809.1:c.67-4385T>C, NR_033314.1:n.654+3742A>G, XR_242808.1:n.503+3742A>G, 11030104, NM_170733.3:c.-21-4385T>C, NC_000011.10:g.27662970=, NM_001143806.1:c.-21-4385T>C, NM_001143813.1:c.-21-4385T>C, NG_011794.1:g.64089T>C, NC_000011.9:g.27684517=, XM_011520280.1:c.226-4385T>C, NM_001143811.1:c.-138-2698T>C, NR_002832.2:n.654+3742A>G, NR_033313.1:n.585+3742A>G, NM_001143807.1:c.-21-4385T>C, XM_005253060.1:c.226-4385T>C, rs57609906, XR_242807.1:n.506+3742A>G, NM_170731.4:c.4-4385T>C, NC_000011.10:g.27662970A>G, NG_011794.1:g.64089=, NM_001143805.1:c.-21-4385T>C, 57609906, NM_170734.3:c.25-4385T>C +PA166154445 rs11030118 PA31891,PA134953249 BDNF,BDNF-AS NC_000011.10:27701516 1 0 0 0 0 NM_001143812.1:c.-862C>T, NM_170731.4:c.3+19896C>T, NM_001143810.1:c.-604C>T, NC_000011.9:g.27723063=, NC_000011.10:g.27701516G>A, rs11030118, NG_011794.1:g.25543C>T, NC_000011.9:g.27723063G>A, NM_001143814.1:c.-1481C>T, NM_001143813.1:c.-1356C>T, NM_001143805.1:c.-22+19128C>T, NM_001709.4:c.-1374C>T, NM_001143809.1:c.-480C>T, 11030118, NM_001143807.1:c.-22+17995C>T, NG_011794.1:g.25543=, NM_001143806.1:c.-22+18913C>T, NM_170733.3:c.-241C>T, NM_170734.3:c.-2110C>T, NM_001143808.1:c.-557C>T, NM_001143811.1:c.-967C>T, NM_170732.4:c.-22+18830C>T, NC_000011.10:g.27701516= +PA166154446 rs11030119 PA31891 BDNF NC_000011.10:27706555 1 0 0 0 0 NG_011794.1:g.20504C>A, NM_001143807.1:c.-22+12956C>T, NM_001143806.1:c.-22+13874C>T, NM_170731.4:c.3+14857C>T, NC_000011.9:g.27728102G>A, NC_000011.9:g.27728102=, rs56442597, NG_011794.1:g.20504C>T, rs36211439, NG_011794.1:g.20504=, NC_000011.10:g.27706555G>T, NC_000011.9:g.27728102G>T, NM_170732.4:c.-22+13791C>T, 56442597, rs17244168, 36211439, rs11030119, rs59667438, 57712173, NC_000011.10:g.27706555=, 17244168, NM_001143805.1:c.-22+14089C>T, rs57712173, 11030119, NC_000011.10:g.27706555G>A, 59667438 +PA166154447 rs11030918 PA298,PA36195 RRM1,STIM1 NC_000011.10:4094257 7 1 0 0 0 NM_001318064.1:c.-869T>C, 17210557, NC_000011.9:g.4115487T>C, NG_027992.2:g.4564T>C, XM_005253059.1:c.-869T>C, 11030918, rs17554091, NC_000011.10:g.4094257=, NC_000011.9:g.4115487=, NG_016277.1:g.243555=, NG_016277.1:g.243555T>C, rs17210557, XM_005253058.1:c.-756T>C, NC_000011.10:g.4094257T>C, XM_011520277.1:c.-869T>C, NG_027992.2:g.4564=, NM_001033.4:c.-756T>C, 17554091, rs11030918 +PA166154448 rs11039149 PA24447,PA31751 ACP2,NR1H3 NC_000011.10:47255124 1 1 0 0 0 XM_005252718.2:c.-92-4667A>G, rs60920446, NM_001251935.1:c.62-4667A>G, XM_005252718.1:c.-92-4667A>G, NC_000011.10:g.47255124A>G, XM_005252717.1:c.-97-4662A>G, NG_030392.1:g.11825=, rs11039149, NG_030392.1:g.11825A>G, XM_005252716.2:c.-92-4667A>G, NC_000011.10:g.47255124=, XM_011519805.1:c.-37-4056A>G, NM_001130102.2:c.-92-4667A>G, XM_005252713.1:c.-37-4056A>G, NC_000011.9:g.47276675=, NM_001251934.1:c.62-4667A>G, XM_005252716.1:c.-92-4667A>G, XM_011519808.1:c.-137-6117A>G, 11039149, NC_000011.9:g.47276675A>G, XM_005252713.2:c.-37-4056A>G, 60920446 +PA166155160 rs110402 PA26874 CRHR1 NC_000017.11:45802681 2 0 0 0 0 NT_187663.1:g.504798G>A, 110402, 115641266, NC_000017.10:g.43880047=, 856312, NG_009902.1:g.23410A=, NT_167251.2:g.985488C>T, rs117475344, NM_001145148.1:c.34-4338G>A, rs856312, rs1008280, 1008280, NT_167251.1:g.987481C>T, rs115641266, NM_001145147.1:c.34-4338G>A, NM_004382.4:c.34-4338G>A, 147461415, rs17762601, 56675034, rs386516387, NM_001303016.1:c.-184-4329G>A, NC_000017.11:g.45802681G>A, 17762601, NG_009902.1:g.23410A>C, rs147461415, NM_001145146.1:c.34-4338G>A, NC_000017.11:g.45802681G>C, NM_001256299.2:c.-492-4329G>A, NM_001303018.1:c.-286-4338G>A, NG_009902.1:g.23410A>G, NC_000017.11:g.45802681=, NM_001303020.1:c.-184-4338G>A, NC_000017.10:g.43880047G>A, 386516387, rs56675034, NC_000017.10:g.43880047G>C, 117475344, rs110402 +PA166154449 rs11042725 PA24580,PA26649 ADM,SBF2 NC_000011.10:10303778 1 1 0 0 0 XM_011520536.1:c.309+273G>T, NC_000011.10:g.10303778C>A, NC_000011.9:g.10325325C>A, NC_000011.10:g.10303778=, rs11042725, 11042725, NC_000011.9:g.10325325=, NM_001124.2:c.-1473C>A +PA166209002 rs11042962 PA351 TH NC_000011.10:2172280 1 0 0 0 0 11042962, NC_000011.10:g.2172280C>T, NG_008128.1:g.4526=, rs11042962, NC_000011.10:g.2172280=, NC_000011.9:g.2193510C>T, NC_000011.9:g.2193510=, NC_000011.10:g.2172280C>G, NG_008128.1:g.4526G>A, NC_000011.9:g.2193510C>G, NG_008128.1:g.4526G>C +PA166157719 rs1104514 NC_000009.12:11028275 1 1 0 0 0 NC_000009.11:g.11028275A>G, rs4314740, rs4112192, 4112192, 4314740, rs386516402, 3922413, NC_000009.12:g.11028275A>G, rs3922413, 59220182, NC_000009.12:g.11028275=, 386516402, rs59220182, NC_000009.11:g.11028275=, rs1104514, 1104514 +PA166154626 rs11045585 PA35844 SLCO1B3 NC_000012.12:20892760 5 1 0 0 0 NM_019844.3:c.1683-5676A>G, NG_032071.1:g.87057A>G, NC_000012.12:g.20892760A>G, NC_000012.11:g.21045694=, NC_000012.11:g.21045694A>G, NG_032071.1:g.87057=, 11045585, rs11045585, NC_000012.12:g.20892760=, XM_005253347.1:c.1683-5676A>G +PA166154627 rs11045818 PA134865839 SLCO1B1 NC_000012.12:21176827 1 0 0 0 0 58004452, NG_011745.1:g.50634=, NG_011745.1:g.50634G>A, 11045818, rs17330010, NC_000012.12:g.21176827G>A, rs58004452, rs11045818, NM_006446.4:c.411G>A, NC_000012.12:g.21176827=, 17330010, NC_000012.11:g.21329761G>A, NP_006437.3:p.Ser137=, NC_000012.11:g.21329761= +PA166154628 rs11045819 PA134865839 SLCO1B1 NC_000012.12:21176879 14 6 3 0 0 NM_006446.4:c.463C>A, 17389312, 60034088, NG_011745.1:g.50686=, 11045819, NP_006437.3:p.Pro155Thr, NC_000012.12:g.21176879C>T, NP_006437.3:p.Pro155Ser, rs11045819, NC_000012.11:g.21329813C>T, NG_011745.1:g.50686C>T, NC_000012.12:g.21176879C>A, rs60034088, NC_000012.11:g.21329813=, NC_000012.12:g.21176879=, NG_011745.1:g.50686C>A, NC_000012.11:g.21329813C>A, rs17389312, NP_006437.3:p.Pro155= +PA166154629 rs11045821 PA134865839 SLCO1B1 NC_000012.12:21179489 1 1 0 0 0 NC_000012.11:g.21332423G>A, rs17389758, NC_000012.11:g.21332423=, NG_011745.1:g.53296=, NG_011745.1:g.53296G>A, NM_006446.4:c.727+469G>A, NC_000012.12:g.21179489=, 17389758, rs11045821, NC_000012.12:g.21179489G>A, 11045821 +PA166180498 rs11045854 PA134865839 SLCO1B1 NC_000012.12:21197100 1 0 0 0 0 NP_006437.3:p.Leu294=, NG_011745.1:g.70907G>A, NC_000012.11:g.21350034G>A, 59531592, NC_000012.12:g.21197100G>A, NC_000012.11:g.21350034=, rs11045854, NG_011745.1:g.70907=, NC_000012.12:g.21197100=, 11045854 +PA166154632 rs11045872 PA134865839 SLCO1B1 NC_000012.12:21219410 2 1 0 0 0 NM_006446.4:c.1682+2107A>G, NC_000012.11:g.21372344=, 56493741, 58461013, NC_000012.11:g.21372344A>T, NG_011745.1:g.93217=, 57270127, 11045872, NG_011745.1:g.93217A>T, NC_000012.12:g.21219410A>G, rs56493741, NC_000012.12:g.21219410=, rs11045872, rs57270127, NC_000012.12:g.21219410A>T, NC_000012.11:g.21372344A>G, NG_011745.1:g.93217A>G, rs58461013 +PA166180502 rs11045873 PA134865839 SLCO1B1 NC_000012.12:21222127 1 0 0 0 0 NC_000012.12:g.21222127=, NC_000012.11:g.21375061=, NC_000012.11:g.21375061T>A, NG_011745.1:g.95934=, NG_011745.1:g.95934T>A, NC_000012.12:g.21222127T>A, 11045873, rs11045873 +PA166180504 rs11045874 PA134865839 SLCO1B1 NC_000012.12:21222129 1 0 0 0 0 NC_000012.11:g.21375063=, NG_011745.1:g.95936=, NG_011745.1:g.95936G>C, 59195998, NC_000012.12:g.21222129=, NC_000012.11:g.21375063G>A, NC_000012.11:g.21375063G>C, NG_011745.1:g.95936G>A, NC_000012.12:g.21222129G>C, NC_000012.12:g.21222129G>A, 11045874, rs11045874 +PA166154633 rs11045879 PA134865839 SLCO1B1 NC_000012.12:21229685 14 3 0 1 0 11045879, rs11045879, NC_000012.12:g.21229685=, NG_011745.1:g.103492=, rs60471795, NC_000012.11:g.21382619T>C, NC_000012.12:g.21229685T>C, 60471795, NM_006446.4:c.1865+4846T>C, NC_000012.11:g.21382619=, NG_011745.1:g.103492T>C +PA166236262 rs11045995 PA29579,PA328 IAPP,SLCO1A2 NC_000012.12:21355244 1 1 0 0 0 NC_000012.11:g.21508178=, NC_000012.12:g.21355244T>C, NC_000012.11:g.21508178T>C, NC_000012.12:g.21355244=, 11045995, rs11045995 +PA166314621 rs11046209 PA396 ABCC9 NC_000012.12:21844032 1 0 0 0 0 11046209, rs11046209, NC_000012.12:g.21844032=, NC_000012.11:g.21996966A>T, NC_000012.12:g.21844032A>T, NC_000012.11:g.21996966=, NG_012819.1:g.97663=, NG_012819.1:g.97663T>A +PA166154634 rs11046217 PA396 ABCC9 NC_000012.12:21864223 1 0 0 0 0 NC_000012.12:g.21864223=, XM_006719025.2:c.2199-1169C>G, NG_012819.1:g.77472=, NM_020297.3:c.2237+216C>G, NM_005691.3:c.2237+216C>G, XM_005253286.1:c.2237+216C>G, 11046217, NG_012819.1:g.77472C>G, XM_005253289.1:c.2199-1169C>G, XM_011520545.1:c.2237+216C>G, NM_005691.2:c.2237+216C>G, XM_005253284.2:c.2237+216C>G, XM_005253291.1:c.2237+216C>G, XM_005253285.1:c.2237+216C>G, XM_005253288.1:c.2237+216C>G, XM_005253289.2:c.2199-1169C>G, XM_005253287.3:c.2237+216C>G, XM_005253286.2:c.2237+216C>G, NM_020297.2:c.2237+216C>G, XM_005253290.1:c.2199-3168C>G, NC_000012.12:g.21864223G>C, XM_005253288.2:c.2237+216C>G, NC_000012.11:g.22017157=, XM_005253287.1:c.2237+216C>G, XM_005253284.1:c.2237+216C>G, rs11046217, XM_005253290.2:c.2199-3168C>G, NC_000012.11:g.22017157G>C +PA166203121 rs11046238 PA396 ABCC9 NC_000012.12:21939987 1 0 0 0 0 NG_012819.1:g.1708T>A, NG_012819.1:g.1708=, NG_012819.1:g.1708T>C, NC_000012.11:g.22092921=, 56554008, NC_000012.11:g.22092921A>T, NC_000012.12:g.21939987A>T, 11046238, rs11046238, NC_000012.12:g.21939987=, NC_000012.12:g.21939987A>G, NC_000012.11:g.22092921A>G +PA166257863 rs11049274 NC_000012.12:28008122 1 1 0 0 0 11049274, NC_000012.11:g.28161055G>T, NC_000012.12:g.28008122=, NC_000012.11:g.28161055G>A, NC_000012.12:g.28008122G>A, rs11049274, NC_000012.11:g.28161055=, NC_000012.12:g.28008122G>T +PA166159492 rs11052877 PA26233 CD69 NC_000012.12:9753094 1 1 0 0 0 NC_000012.11:g.9905690A>G, 60438903, rs11052877, NC_000012.12:g.9753094=, 17204214, NC_000012.12:g.9753094A>G, NC_000012.11:g.9905690=, 11052877 +PA166156754 rs1105525 PA143,PA31134 DHFR,MSH3 NC_000005.10:80654689 1 1 0 0 0 NG_016607.1:g.5215C>G, NM_001290357.1:c.-200G>A, NM_002439.4:c.-39C>T, NC_000005.9:g.79950508=, NC_000005.9:g.79950508C>G, NC_000005.10:g.80654689C>G, NG_023304.1:g.5293=, XM_005248456.1:c.-306G>A, NM_000791.3:c.-200G>A, NC_000005.10:g.80654689C>T, rs1105525, 1105525, rs4382147, NG_016607.2:g.5215C>G, NC_000005.10:g.80654689=, NG_023304.1:g.5293G>A, NM_001290354.1:c.-306G>A, NG_023304.1:g.5293G>C, NG_016607.2:g.5215C>T, XM_005248455.1:c.-657G>A, 4382147, NR_110936.1:n.293G>A, NG_016607.1:g.5215C>T, NC_000005.9:g.79950508C>T, NG_016607.2:g.5215=, NG_016607.1:g.5215= +PA166155623 rs1105879 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233693556 22 4 2 0 0 386516515, NC_000002.11:g.234602202A>C, NP_001063.2:p.Arg184=, 17684024, 4365457, NM_001072.3:c.552A>C, rs386516515, rs4365457, NM_205862.1:c.-7-243A>C, NP_001063.2:p.Arg184Ser, NC_000002.12:g.233693556=, NG_002601.2:g.108813=, NC_000002.12:g.233693556A>C, NM_021027.2:c.855+20767A>C, XR_241241.1:n.941+20767A>C, NC_000002.11:g.234602202=, 61226878, NM_019076.4:c.856-73478A>C, NG_002601.2:g.108813A>C, XR_241240.1:n.713A>C, rs61226878, rs17684024, rs1105879, 1105879, NM_019075.2:c.855+56179A>C, NM_019077.2:c.855+10764A>C +PA166155624 rs1105880 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233693319 9 2 2 0 0 NM_205862.1:c.-7-480A>G, NP_001063.2:p.Leu105=, NC_000002.11:g.234601965A>G, 57190774, rs1105880, rs16849627, 1105880, NG_002601.2:g.108576A>G, NM_001072.3:c.315A>G, 4365456, NC_000002.12:g.233693319=, NC_000002.11:g.234601965=, rs4365456, NM_019076.4:c.856-73715A>G, NG_002601.2:g.108576=, NM_021027.2:c.855+20530A>G, XR_241240.1:n.476A>G, XR_241241.1:n.941+20530A>G, NM_019075.2:c.855+55942A>G, rs57190774, 16849627, NM_019077.2:c.855+10527A>G, NC_000002.12:g.233693319A>G +PA166154635 rs11062040 PA83,PA134889143 CACNA1C,DCP1B NC_000012.12:1982091 1 0 0 0 0 11062040, rs16928987, NC_000012.12:g.1982091=, 58571186, XM_006719017.1:c.139+10890C>T, NC_000012.12:g.1982091C>T, XM_011520927.1:c.13+9030G>A, NG_008801.2:g.16306=, NC_000012.11:g.2091257=, XM_005253765.1:c.139+10890C>T, XM_011520928.1:c.-62-2324G>A, NR_135060.1:n.549+9030G>A, NC_000012.11:g.2091257C>T, rs11062040, XM_011521020.1:c.139+10890C>T, 16928987, rs58571186, NM_152640.4:c.319+11173G>A, NG_008801.2:g.16306C>T +PA166154636 rs11064426 PA176 GNB3 NC_000012.12:6844093 3 1 0 0 0 NG_009100.2:g.8883A>T, NC_000012.11:g.6953257A>T, 11064426, NG_009100.2:g.8883A>G, NC_000012.12:g.6844093A>G, NG_009100.2:g.8883A>C, NC_000012.12:g.6844093A>C, XM_011520954.1:c.696+115A>C, rs60304352, XM_005253680.1:c.696+115A>C, XM_005277751.1:c.699+115A>C, XM_011520953.1:c.699+115A>C, NW_003871083.2:g.45677A>C, XM_005253679.1:c.699+115A>C, 60304352, NC_000012.11:g.6953257=, NM_001297571.1:c.696+115A>C, NC_000012.12:g.6844093A>T, NG_009100.1:g.8883A>T, XM_005277752.1:c.696+115A>C, NC_000012.12:g.6844093=, NM_002075.3:c.699+115A>C, NG_009100.1:g.8883=, NG_009100.1:g.8883A>C, NC_000012.11:g.6953257A>G, NG_009100.2:g.8883=, NC_000012.11:g.6953257A>C, NG_009100.1:g.8883A>G, rs11064426, XM_005277753.1:c.701+113A>C, XM_005253681.1:c.701+113A>C +PA166154637 rs11064477 PA142671181 PHB2 NC_000012.12:6965202 1 0 0 0 0 NM_001267700.1:c.*333+150C>T, NM_001144831.1:c.*483C>T, 11064477, NC_000012.11:g.7074365=, NM_001267700.1:c.*483C>T, XR_254424.1:n.1874C>T, NM_001144831.1:c.*333+150C>T, rs11064477, NC_000012.12:g.6965202=, NC_000012.12:g.6965202G>C, NC_000012.12:g.6965202G>A, XR_242980.2:n.1646C>T, XR_242980.1:n.1641C>T, NC_000012.11:g.7074365G>A, NC_000012.11:g.7074365G>C +PA166179453 rs11065987 NC_000012.12:111634620 1 1 0 0 0 17684828, NC_000012.11:g.112072424A>G, NC_000012.11:g.112072424=, NC_000012.12:g.111634620A>G, 11065987, rs11065987, 57294558, NC_000012.12:g.111634620= +PA166154930 rs11072508 NC_000015.10:74770056 1 0 0 0 0 11072508, 17419373, NC_000015.10:g.74770056C>T, rs17419373, rs11072508, NC_000015.9:g.75062397C>T, NC_000015.9:g.75062397=, NC_000015.10:g.74770056= +PA166176636 rs11075291 PA244 ABCC1 NC_000016.10:16004618 2 0 0 0 0 59266169, NC_000016.10:g.16004618G>A, NG_028268.2:g.60042G>A, NG_028268.2:g.60042=, NC_000016.9:g.16098475G>A, NG_028268.1:g.60042G>A, NG_028268.2:g.60042G>T, NC_000016.9:g.16098475=, 11075291, NC_000016.9:g.16098475G>T, NC_000016.10:g.16004618G>T, 56619763, NC_000016.10:g.16004618=, rs11075291, NG_028268.1:g.60042=, NG_028268.1:g.60042G>T +PA166155103 rs11075646 PA377,PA142671830 CES2,CIAO2B NC_000016.10:66935273 3 0 0 0 0 NC_000016.9:g.66969176=, NR_024525.2:n.-850G>C, 16957087, 60326948, NM_198061.2:c.-171C>G, rs11075646, NC_000016.9:g.66969176C>G, NC_000016.10:g.66935273=, XM_011523421.1:c.-806C>G, NC_000016.10:g.66935273C>G, NR_046109.1:n.-850G>C, 11075646, NM_003869.5:c.-171C>G, NR_036684.1:n.803C>G, rs60326948, NM_016062.3:c.-909G>C, rs16957087 +PA166155244 rs11078659 PA45 ALOX12 NC_000017.11:7000625 1 1 0 0 0 NR_040089.1:n.233+9171C>T, rs57178620, NC_000017.10:g.6903944=, XM_011523780.1:c.1101+146G>A, NC_000017.11:g.7000625G>C, NM_000697.2:c.951+146G>A, XM_005256588.1:c.585+146G>A, NC_000017.10:g.6903944G>C, NC_000017.11:g.7000625G>A, rs11078659, XR_243532.1:n.281-1039C>T, NC_000017.10:g.6903944G>A, XR_243530.1:n.386-1039C>T, 57178620, NC_000017.11:g.7000625=, 11078659 +PA166155245 rs11080344 PA164724093 NOS2 NC_000017.11:27777485 2 1 0 0 0 NC_000017.11:g.27777485=, NC_000017.10:g.26104511=, NC_000017.10:g.26104511T>C, XM_011524862.1:c.615+1205A>G, NC_000017.10:g.26104511T>G, XM_011524860.1:c.1278+1205A>G, rs58212720, NC_000017.11:g.27777485T>C, 58212720, 11080344, NG_011470.1:g.28045A>C, XM_011524859.1:c.1281+1205A>G, NG_011470.1:g.28045=, NG_011470.1:g.28045A>G, XM_011524861.1:c.1281+1205A>G, rs11080344, NM_000625.4:c.1281+1205A>G, NC_000017.11:g.27777485T>G +PA166163840 rs11086926 PA29349 HNF4A NC_000020.11:44430057 1 0 0 0 0 NC_000020.11:g.44430057=, NC_000020.10:g.43058697=, rs11086926, NC_000020.11:g.44430057T>G, NG_009818.1:g.79257=, NC_000020.10:g.43058697T>G, NG_009818.1:g.79257T>G, 11086926 +PA166153622 rs1109374 PA165750325 AK4 NC_000001.11:65167814 1 0 0 0 0 NM_013410.3:c.145+19262T>C, NM_203464.2:c.145+19262T>C, NC_000001.10:g.65633497=, NC_000001.10:g.65633497T>G, rs1109374, 1109374, NC_000001.11:g.65167814=, rs61188756, NC_000001.11:g.65167814T>G, NM_001005353.2:c.145+19262T>C, NC_000001.11:g.65167814T>C, NC_000001.10:g.65633497T>C, 61188756 +PA166155625 rs1109866 PA24388 ABCB6 NC_000002.12:219218557 1 0 0 0 0 rs1109866, 1109866, NC_000002.12:g.219218557C>A, XM_005246216.1:c.117G>A, rs117984511, NG_032110.1:g.5434G>T, XR_241277.1:n.402G>A, 117984511, XP_005246272.1:p.Leu39=, NC_000002.11:g.220083279=, NG_032110.1:g.5434=, NC_000002.12:g.219218557C>T, 17857561, NC_000002.12:g.219218557C>G, XP_005246273.1:p.Leu39=, XM_005246215.1:c.117G>A, NC_000002.11:g.220083279C>A, NP_005680.1:p.Leu39=, rs17857561, rs17844848, NM_005689.2:c.117G>A, rs56878405, NC_000002.11:g.220083279C>G, NC_000002.11:g.220083279C>T, NC_000002.12:g.219218557=, NG_032110.1:g.5434G>C, 17844848, 56878405, NG_032110.1:g.5434G>A +PA166155626 rs1109867 PA24388 ABCB6 NC_000002.12:219218731 1 0 0 0 0 XR_241277.1:n.228C>A, rs1109867, rs60753193, XM_005246216.1:c.-58C>A, NM_005689.2:c.-58C>A, 2090807, NC_000002.12:g.219218731G>T, NC_000002.11:g.220083453=, NG_032110.1:g.5260C>A, rs2090807, NC_000002.11:g.220083453G>T, 60753193, NG_032110.1:g.5260=, 1109867, XM_005246215.1:c.-58C>A, NC_000002.12:g.219218731= +PA166156643 rs11100483 PA134953776 MAML3 NC_000004.12:140101163 1 0 0 0 0 NC_000004.12:g.140101163=, NM_018717.4:c.468+51697C>T, rs11100483, NC_000004.11:g.141022317G>A, NC_000004.11:g.141022317=, NC_000004.12:g.140101163G>A, 11100483 +PA166154123 rs11101187 PA26448 CHAT NC_000010.11:49628987 1 0 0 0 0 NM_001142933.1:c.865+1202C>T, NC_000010.10:g.50837033=, NC_000010.11:g.49628987C>G, rs11101187, NM_020985.3:c.757+1202C>T, NC_000010.11:g.49628987=, NM_020549.4:c.1111+1202C>T, NG_011797.1:g.24893C>T, NC_000010.10:g.50837033C>T, NC_000010.11:g.49628987C>T, NM_020984.3:c.757+1202C>T, NM_001142929.1:c.757+1202C>T, NM_020986.3:c.757+1202C>T, 11101187, NC_000010.10:g.50837033C>G, NM_001142934.1:c.757+1202C>T, NG_011797.1:g.24893=, NG_011797.1:g.24893C>G +PA166154124 rs11101191 PA26448 CHAT NC_000010.11:49645146 1 0 0 0 0 NM_020549.4:c.1112-1359T>C, NM_020985.3:c.758-1359T>C, NC_000010.11:g.49645146T>C, NM_001142929.1:c.758-1359T>C, NM_020984.3:c.758-1359T>C, 58098145, NC_000010.11:g.49645146=, rs11101191, NC_000010.10:g.50853192=, rs58098145, 11101191, NM_001142933.1:c.866-1359T>C, NG_011797.1:g.41052=, NM_020986.3:c.758-1359T>C, NC_000010.10:g.50853192T>C, NG_011797.1:g.41052T>C, NM_001142934.1:c.758-1359T>C +PA166154125 rs11101192 PA26448 CHAT NC_000010.11:49646721 1 0 0 0 0 57573103, NM_001142934.1:c.927+47G>A, NC_000010.11:g.49646721=, rs11101192, NC_000010.10:g.50854767=, NM_020986.3:c.927+47G>A, rs57573103, NM_020549.4:c.1281+47G>A, NM_001142929.1:c.927+47G>A, NC_000010.11:g.49646721G>A, NM_020985.3:c.927+47G>A, NG_011797.1:g.42627=, NC_000010.10:g.50854767G>A, 11101192, NG_011797.1:g.42627G>A, NM_001142933.1:c.1035+47G>A, NM_020984.3:c.927+47G>A +PA166154126 rs11101193 PA26448 CHAT NC_000010.11:49648092 1 0 0 0 0 NM_001142929.1:c.928-415G>T, NM_020985.3:c.928-415G>T, NC_000010.10:g.50856138=, rs58391990, NM_020549.4:c.1282-415G>T, rs11101193, NG_011797.1:g.43998=, NM_001142933.1:c.1036-415G>T, NM_020986.3:c.928-415G>T, NG_011797.1:g.43998G>T, 58391990, NC_000010.11:g.49648092G>T, NC_000010.10:g.50856138G>T, NM_020984.3:c.928-415G>T, 11101193, NC_000010.11:g.49648092=, NM_001142934.1:c.928-415G>T +PA166157826 rs11103167 PA38725 KCNT1 NC_000009.12:135756318 1 0 0 0 0 60059145, XM_011518881.1:c.22-555T>C, 60437030, NC_000009.12:g.135756318=, XM_011518878.1:c.676-555T>C, NM_020822.2:c.541-555T>C, NG_033070.1:g.59134=, rs11103167, NC_000009.11:g.138648164T>C, XM_011518879.1:c.676-555T>C, NG_033070.1:g.59134T>C, NC_000009.11:g.138648164=, NM_001272003.1:c.397-555T>C, XM_011518877.1:c.676-555T>C, rs60437030, XM_011518880.1:c.442-555T>C, rs60059145, NC_000009.12:g.135756318T>C, XM_005263407.1:c.541-555T>C, 11103167 +PA166157827 rs11103182 PA38725 KCNT1 NC_000009.12:135771950 1 0 0 0 0 XM_011518879.1:c.2144-765G>T, XM_011518880.1:c.1910-765G>T, NG_033070.1:g.74766G>A, NC_000009.11:g.138663796G>T, NM_001272003.1:c.1874-765G>T, XM_011518881.1:c.1499-765G>T, XM_011518878.1:c.2153-765G>T, NC_000009.12:g.135771950G>T, XM_005263407.1:c.2009-765G>T, NG_033070.1:g.74766=, rs11103182, NG_033070.1:g.74766G>T, NM_020822.2:c.2009-765G>T, NC_000009.11:g.138663796G>A, 11103182, XM_011518877.1:c.2144-765G>T, NC_000009.11:g.138663796=, NC_000009.12:g.135771950=, NC_000009.12:g.135771950G>A +PA166155008 rs1110470 PA29832 IL4R NC_000016.10:27325106 1 1 0 0 0 NM_001257997.1:c.-494+11086G>A, NC_000016.10:g.27325106G>A, NC_000016.9:g.27336427G>A, rs59554165, XR_243278.1:n.181+11086G>A, XM_011545830.1:c.-296-4960G>A, rs17785010, XM_011545825.1:c.-19+11289G>A, rs386516972, NC_000016.9:g.27336427=, NM_000418.3:c.-151-4960G>A, NG_012086.1:g.16177=, rs1110470, 59554165, XM_011545832.1:c.-164+11086G>A, 1110470, 17785010, 386516972, NM_001257407.1:c.-308+11086G>A, NG_012086.1:g.16177G>A, XM_005255307.1:c.-296-4960G>A, XM_011545826.1:c.-151-4960G>A, XM_005255305.1:c.162+11086G>A, NM_001257406.1:c.-19+11086G>A, XM_011545827.1:c.-151-4960G>A, XM_005255309.1:c.162+11086G>A, XM_011545829.1:c.-296-4960G>A, XM_011545831.1:c.-164+11289G>A, NC_000016.10:g.27325106= +PA166154317 rs1110976 PA27478 DRD2 NC_000011.10:113413797 1 0 0 0 0 rs1110976, NM_000795.3:c.810+578A>C, NM_016574.3:c.724-914A>C, NC_000011.9:g.113284519=, NC_000011.9:g.113284519T>G, XM_005271426.1:c.807+578A>C, NC_000011.10:g.113413797=, NC_000011.10:g.113413797T>G, NG_008841.1:g.66483=, NG_008841.1:g.66483A>C, 1110976, XM_005271425.1:c.810+578A>C +PA166154638 rs11111201 PA143485378,PA33435 PARPBP,PMCH NC_000012.12:102194697 1 0 0 0 0 XM_005268993.1:c.1021-615G>A, XM_011538513.1:c.1276-1254G>A, NC_000012.11:g.102588475G>A, XM_011538506.1:c.1276-615G>A, NR_135123.1:n.599-1254G>A, XM_011538519.1:c.409-615G>A, XM_011538511.1:c.1018-615G>A, XM_011538509.1:c.1030-615G>A, XM_011538507.1:c.1105-615G>A, NC_000012.11:g.102588475=, XM_011538520.1:c.409-615G>A, NC_000012.12:g.102194697G>A, XM_005268992.1:c.1495-615G>A, XM_011538518.1:c.834-1254G>A, NC_000012.12:g.102194697=, rs17438953, XM_011538512.1:c.913-615G>A, rs11111201, XM_011538516.1:c.1018-1254G>A, NM_001319988.1:c.1495-615G>A, NM_001319994.1:c.1021-615G>A, XM_011538508.1:c.1042-615G>A, 17438953, XM_011538510.1:c.1021-615G>A, 11111201, NM_017915.4:c.1264-615G>A, XM_011538514.1:c.1021-615G>A, NM_001319993.1:c.1021-615G>A, XM_011538515.1:c.613-615G>A, XM_011538517.1:c.913-1254G>A +PA166263681 rs11114083 PA27139 DAO NC_000012.12:108883716 3 0 0 0 0 NC_000012.11:g.109277492C>G, NC_000012.12:g.108883716C>A, 11114083, NC_000012.12:g.108883716=, NC_000012.12:g.108883716C>G, NC_000012.11:g.109277492=, NC_000012.11:g.109277492C>A, NG_023236.1:g.8636C>A, NG_023236.1:g.8636=, rs11114083, NG_023236.1:g.8636C>G +PA166153963 rs1111875 NC_000010.11:92703125 1 0 0 0 0 NC_000010.11:g.92703125=, NC_000010.10:g.94462882C>G, NC_000010.11:g.92703125C>G, NC_000010.10:g.94462882=, 57163688, NC_000010.10:g.94462882C>T, rs1111875, rs57163688, 1111875, NC_000010.11:g.92703125C>T +PA166157861 rs1112122 PA28491 GABRA3 NC_000023.11:152437532 1 0 0 0 0 rs60180048, NC_000023.11:g.152437532=, NC_000023.10:g.151606004=, NG_007102.2:g.18827C>A, 1112122, NM_000808.3:c.-27+13614C>A, NC_000023.10:g.151606004G>T, NC_000023.11:g.152437532G>C, XM_005274659.1:c.-27+13614C>A, XM_011531133.1:c.-27+13614C>A, NG_007102.2:g.18827=, rs1112122, 60180048, NG_007102.1:g.18827C>A, XM_011531134.1:c.-27+13614C>A, NC_000023.11:g.152437532G>T, NC_000023.10:g.151606004G>C, NG_007102.2:g.18827C>G, XM_005274660.1:c.-27+13614C>A, XM_006724811.1:c.-27+13614C>A +PA166181811 rs11121611 PA142672655 ACOT7 NC_000001.11:6307159 1 0 0 0 0 NC_000001.10:g.6367219T>G, rs11121611, 11121611, NC_000001.11:g.6307159T>G, 59920568, NC_000001.11:g.6307159=, NC_000001.11:g.6307159T>C, NC_000001.10:g.6367219=, NC_000001.10:g.6367219T>C +PA166153819 rs11122576 PA42 AGT NC_000001.11:230710933 4 2 0 0 0 NM_000029.3:c.-3-80A>G, 11122576, NG_008836.1:g.8658A>T, NG_008836.2:g.8658A>T, rs59792559, NC_000001.11:g.230710933=, 58482950, NG_008836.2:g.8658=, NC_000001.11:g.230710933T>G, NG_008836.1:g.8658A>C, NG_008836.1:g.8658=, NG_008836.2:g.8658A>G, NC_000001.10:g.230846679=, rs11122576, NG_008836.1:g.8658A>G, NG_008836.2:g.8658A>C, NC_000001.10:g.230846679T>C, NC_000001.11:g.230710933T>A, NC_000001.10:g.230846679T>A, 59792559, rs58482950, NC_000001.10:g.230846679T>G, NC_000001.11:g.230710933T>C +PA166155798 rs11123469 PA134890284 INSIG2 NC_000002.12:118086607 1 0 0 0 0 NC_000002.12:g.118086607T>C, XM_005263690.2:c.-2023T>C, XM_005263691.1:c.-2015T>C, 56533314, 11123469, NC_000002.11:g.118844183=, XM_011512305.1:c.696+1453A>G, NC_000002.12:g.118086607=, rs11123469, XM_005263690.1:c.-2023T>C, NC_000002.11:g.118844183T>C, rs56533314, NM_016133.2:c.-2073T>C +PA166161873 rs11124945 PA134912826 PLEKHH2 NC_000002.12:43650017 1 1 0 0 0 NC_000002.12:g.43650017=, NC_000002.12:g.43650017A>G, NC_000002.11:g.43877156A>G, NC_000002.11:g.43877156=, 11124945, rs11124945 +PA166160641 rs11125 PA30340 LGALS3 NC_000014.9:55145121 1 1 0 0 0 NG_017089.1:g.20905=, 1126860, NC_000014.9:g.55145121=, NC_000014.9:g.55145121A>T, 17295916, NP_002297.2:p.Gln201His, 3182151, NP_002297.2:p.Gln201=, 11538650, 17354346, NC_000014.8:g.55611839=, NG_017089.1:g.20905A>T, NC_000014.8:g.55611839A>T, 11125, rs11125 +PA166155799 rs11125035 PA33765 PRKCE NC_000002.12:45828910 1 1 0 0 0 XM_005264429.1:c.349-14090T>A, NC_000002.11:g.46056049=, XM_011532971.1:c.61-14090T>A, XM_011532974.1:c.61-14090T>A, 59935834, XM_011532976.1:c.61-14090T>A, NC_000002.12:g.45828910=, XM_011532973.1:c.61-14090T>A, XM_011532978.1:c.7-14090T>A, XM_011532979.1:c.4-14090T>A, 11125035, NC_000002.12:g.45828910T>A, XM_011532970.1:c.61-14090T>A, NM_005400.2:c.349-14090T>A, rs11125035, XM_005264431.1:c.349-14090T>A, XM_005264428.1:c.349-14090T>A, XM_011532977.1:c.7-14090T>A, XM_005264430.1:c.-102-14090T>A, XM_011532972.1:c.61-14090T>A, XR_939695.1:n.1135-14090T>A, rs59935834, NC_000002.11:g.46056049T>A, XM_011532975.1:c.61-14090T>A, XM_005264431.2:c.349-14090T>A +PA166283383 rs11125039 PA33765 PRKCE NC_000002.12:45869545 1 1 0 0 0 11125039, NC_000002.12:g.45869545=, NC_000002.11:g.46096684A>G, NC_000002.11:g.46096684=, rs11125039, 61282203, NC_000002.12:g.45869545A>G +PA166155800 rs11125883 PA37418 XPO1 NC_000002.12:61483438 3 1 0 0 0 58222853, XM_011533097.1:c.2678-347T>G, XM_005264544.1:c.2633-347T>G, NC_000002.12:g.61483438A>G, NC_000002.11:g.61710573=, XM_011533098.1:c.2543-347T>G, NM_003400.3:c.2678-347T>G, NC_000002.12:g.61483438A>C, XM_011533099.1:c.2480-347T>G, rs11125883, NC_000002.12:g.61483438=, XM_006712094.2:c.2678-347T>G, XM_005264545.1:c.2480-347T>G, NC_000002.11:g.61710573A>G, XM_005264546.1:c.2285-347T>G, 11125883, NC_000002.11:g.61710573A>C, rs58222853 +PA166161851 rs11126740 PA27009 CTNNA2 NC_000002.12:79673969 1 1 0 0 0 NC_000002.11:g.79901095A>C, NC_000002.12:g.79673969=, NC_000002.11:g.79901095A>T, NC_000002.11:g.79901095A>G, NC_000002.12:g.79673969A>G, NC_000002.12:g.79673969A>T, rs11126740, NC_000002.12:g.79673969A>C, 11126740, 60914228, NC_000002.11:g.79901095= +PA166156441 rs11128347 PA134931098 PDZRN3 NC_000003.12:73570410 1 0 0 0 0 NG_047128.1:g.59512C>A, NC_000003.11:g.73619561G>C, XM_005264719.1:c.-1248C>G, NM_015009.2:c.918+31944C>G, NG_047128.1:g.59512C>G, NC_000003.12:g.73570410G>C, rs59928417, NC_000003.12:g.73570410=, NC_000003.11:g.73619561G>T, rs11128347, NC_000003.12:g.73570410G>T, NC_000003.11:g.73619561=, NG_047128.1:g.59512=, 11128347, NM_001303139.1:c.-1248C>G, 59928417 +PA166287241 rs11130424 PA26013 CACNA2D3 NC_000003.12:54544778 1 0 0 0 0 57501522, NC_000003.11:g.54578805=, NC_000003.11:g.54578805G>A, 56467167, 11130424, rs11130424, NC_000003.12:g.54544778G>A, NC_000003.12:g.54544778= +PA166153964 rs1113129 PA125 CYP2C8 NC_000010.11:95051288 2 2 0 0 0 NC_000010.10:g.96811045=, NC_000010.10:g.96811045G>A, NC_000010.11:g.95051288G>C, NC_000010.10:g.96811045G>C, NG_007972.1:g.23210C>G, NM_001198854.1:c.514-5337C>G, NC_000010.11:g.95051288G>A, rs1113129, NG_007972.1:g.23210C>A, NM_001198853.1:c.610-5337C>G, 1113129, NC_000010.11:g.95051288=, NM_000770.3:c.820-5337C>G, NG_007972.1:g.23210=, NM_001198855.1:c.610-5337C>G, NC_000010.11:g.95051288G>T, NG_007972.1:g.23210C>T, NC_000010.10:g.96811045G>T, XR_246073.1:n.916-5337C>G, XR_945610.1:n.916-5337C>G, 4488135, rs4488135 +PA166185440 rs1113193 PA37174,PA37183 UGT1A10,UGT1A8 NC_000002.12:233660491 1 0 0 0 0 1113193, rs1113193, NG_002601.2:g.75748=, NC_000002.11:g.234569137G>A, 4289186, NC_000002.12:g.233660491=, NC_000002.11:g.234569137=, NC_000002.12:g.233660491G>A, NG_002601.2:g.75748G>A +PA166170128 rs11133767 PA311 SLC6A3 NC_000005.10:1401465 1 0 0 0 0 NG_015885.1:g.48964=, NG_015885.1:g.48964G>A, NC_000005.9:g.1401580C>T, 11133767, 57132938, rs11133767, NC_000005.10:g.1401465C>T, NC_000005.9:g.1401580=, NC_000005.10:g.1401465= +PA166156867 rs11134178 PA165660382 MIR4278 NC_000005.10:6834054 1 0 0 0 0 rs11134178, rs60818519, NC_000005.10:g.6834054=, NC_000005.10:g.6834054T>C, NC_000005.9:g.6834167=, NC_000005.9:g.6834167T>C, 60818519, 11134178 +PA166180973 rs111364296 PA34896 RYR1 NC_000019.10:38499817 1 0 0 0 0 NP_000531.2:p.Glu2404Ter, NC_000019.10:g.38499817G>T, NC_000019.9:g.38990457=, NC_000019.9:g.38990457G>A, NG_008866.1:g.71118G>T, 111364296, NP_000531.2:p.Glu2404=, NP_000531.2:p.Glu2404Lys, NC_000019.10:g.38499817G>A, rs111364296, NG_008866.1:g.71118G>A, NC_000019.10:g.38499817=, NG_008866.1:g.71118=, NC_000019.9:g.38990457G>T +PA166161273 rs11140800 PA31818 NTRK2 NC_000009.12:84893222 1 0 0 0 0 11140800, rs11140800, NC_000009.11:g.87508137C>A, 61358534, NG_012201.2:g.229672=, NC_000009.12:g.84893222=, 57796388, NC_000009.12:g.84893222C>A, NC_000009.11:g.87508137=, NG_012201.2:g.229672C>A +PA166157828 rs11141915 PA27142 DAPK1 NC_000009.12:87620879 2 1 0 0 0 XM_005251756.1:c.284+15704A>C, NM_004938.3:c.284+15704A>C, rs36209074, NM_001288730.1:c.284+15704A>C, 36209074, NC_000009.11:g.90235794A>C, XM_005251757.2:c.284+15704A>C, rs58921402, NC_000009.12:g.87620879=, XM_005251757.1:c.284+15704A>C, 11141915, NG_029883.1:g.128039A>C, 58921402, NG_029883.1:g.128039=, NC_000009.12:g.87620879A>C, NM_001288729.1:c.284+15704A>C, XM_005251755.1:c.284+15704A>C, NC_000009.11:g.90235794=, rs11141915, NM_001288731.1:c.284+15704A>C +PA166157829 rs11144870 PA134916697 RFK NC_000009.12:76389297 1 1 0 0 0 NC_000009.11:g.79004213C>T, NC_000009.12:g.76389297C>T, 58450862, NC_000009.11:g.79004213=, rs58450862, NC_000009.12:g.76389297=, NM_018339.5:c.235-641G>A, 11144870, rs11144870 +PA166157830 rs11146020 PA28978 GRIN1 NC_000009.12:137138632 2 0 0 0 0 NM_021569.3:c.-855G>C, 11146020, XM_005266071.1:c.-855G>C, XM_005266071.2:c.-855G>C, XM_005266072.2:c.-855G>C, NC_000009.11:g.140033084G>C, XM_005266072.1:c.-855G>C, XM_011518583.1:c.-855G>C, rs11146020, NC_000009.12:g.137138632=, XM_005266073.1:c.-855G>C, NM_000832.6:c.-855G>C, NM_007327.3:c.-855G>C, NM_001185091.1:c.-855G>C, XM_005266073.3:c.-855G>C, NC_000009.11:g.140033084=, NC_000009.12:g.137138632G>C, NM_001185090.1:c.-855G>C, NG_011507.1:g.4476G>C, NG_011507.1:g.4476= +PA166155104 rs11150606 PA165450635,PA133787052 PRSS53,VKORC1 NC_000016.10:31087690 1 1 0 0 0 NP_001034592.1:p.Gln30=, NC_000016.10:g.31087690T>C, NC_000016.10:g.31087690T>A, XM_011545818.1:c.89A>G, NP_001034592.1:p.Gln30Arg, NP_001034592.1:p.Gln30Leu, XP_005255350.1:p.Gln30Arg, 11150606, XM_005255293.1:c.89A>G, XM_011545816.1:c.89A>G, XM_011545819.1:c.89A>G, XM_005255294.1:c.-530A>G, NC_000016.9:g.31099011T>A, NC_000016.9:g.31099011T>C, NM_001039503.2:c.89A>G, NC_000016.9:g.31099011=, XP_011544122.1:p.Gln30Arg, rs11150606, XP_011544121.1:p.Gln30Arg, NC_000016.10:g.31087690=, XM_011545820.1:c.89A>G, XP_011544120.1:p.Gln30Arg, XP_011544119.1:p.Gln30Arg, XP_011544118.1:p.Gln30Arg, XM_011545817.1:c.89A>G +PA166157173 rs11155012 PA134893289 ECT2L NC_000006.12:138830647 1 1 0 0 0 NC_000006.12:g.138830647G>A, XM_011535795.1:c.180-7705G>A, XM_011535797.1:c.-28-7705G>A, 58466605, NC_000006.11:g.139151784G>T, rs56479252, XR_943065.1:n.213C>T, NM_001195037.2:c.180-7705G>A, 11155012, XM_006715472.2:c.180-7705G>A, NC_000006.11:g.139151784=, XM_011535796.1:c.231-7705G>A, NC_000006.11:g.139151784G>A, rs58466605, XR_943064.1:n.208C>T, 56479252, NC_000006.12:g.138830647G>T, NM_001077706.2:c.180-7705G>A, NC_000006.12:g.138830647=, rs11155012 +PA166159109 rs11157718 NC_000014.9:50014242 1 0 0 0 0 60682696, rs11157718, NC_000014.9:g.50014242C>T, NC_000014.8:g.50480960C>T, NC_000014.8:g.50480960C>A, 11157718, NC_000014.9:g.50014242=, NC_000014.8:g.50480960=, NC_000014.9:g.50014242C>A +PA166170342 rs111618861 NC_000008.11:56131824_56131828 1 1 0 0 0 NC_000008.10:g.57044383_57044396=, NC_000008.11:g.56131837del, NC_000008.10:g.57044394_57044396del, NC_000008.11:g.56131836_56131837del, NC_000008.10:g.57044396del, NC_000008.10:g.57044395_57044396del, rs111618861, NC_000008.11:g.56131824_56131837=, 111618861, NC_000008.11:g.56131836_56131837dup, NC_000008.10:g.57044396dup, NC_000008.11:g.56131837dup, NC_000008.11:g.56131835_56131837del, NC_000008.10:g.57044395_57044396dup +PA166170355 rs111645190 NC_000019.10:40855903 1 0 0 0 0 rs111645190, NC_000019.10:g.40855903G>A, NG_055456.1:g.5578G>A, NC_000019.10:g.40855903=, NG_055456.1:g.5578=, NC_000019.9:g.41361808=, 111645190, NC_000019.9:g.41361808G>A +PA166159098 rs1116816 NC_000008.11:61900159 1 0 0 0 0 1116816, NC_000008.10:g.62812718C>T, NC_000008.11:g.61900159=, NC_000008.10:g.62812718=, 4342586, NC_000008.11:g.61900159C>T, rs1116816 +PA166179035 rs11168287 PA37301 VDR NC_000012.12:47891631 1 0 0 0 0 rs11168287, NC_000012.12:g.47891631=, NG_008731.1:g.18401C>T, 11168287, NC_000012.12:g.47891631G>A, NC_000012.11:g.48285414=, NC_000012.11:g.48285414G>A, NG_008731.1:g.18401=, 59348620 +PA166176701 rs11168292 PA37301 VDR NC_000012.12:47899822 1 1 0 0 0 NC_000012.12:g.47899822=, NC_000012.11:g.48293605C>G, NG_008731.1:g.10210G>C, NG_008731.1:g.10210G>T, 11168292, NC_000012.11:g.48293605=, rs11168292, 12721406, NG_008731.1:g.10210=, NC_000012.12:g.47899822C>A, NC_000012.12:g.47899822C>G, NC_000012.11:g.48293605C>A +PA166176702 rs11168293 PA37301 VDR NC_000012.12:47899933 1 1 0 0 0 NC_000012.12:g.47899933=, 11168293, NC_000012.11:g.48293716=, 12721407, NC_000012.11:g.48293716G>T, NC_000012.11:g.48293716G>A, rs11168293, NC_000012.12:g.47899933G>T, NG_008731.1:g.10099=, NG_008731.1:g.10099C>T, NC_000012.12:g.47899933G>A, NG_008731.1:g.10099C>A +PA166185600 rs11172113 PA233 LRP1 NC_000012.12:57133500 2 0 0 0 0 NC_000012.11:g.57527283=, rs11172113, 11172113, NG_016444.1:g.10002T>C, NC_000012.11:g.57527283T>C, 57203827, NC_000012.12:g.57133500T>C, NC_000012.12:g.57133500=, NG_016444.1:g.10002= +PA166163153 rs11178997 PA128747823 TPH2 NC_000012.12:71938373 1 0 0 0 0 NG_008279.1:g.4528T>A, NC_000012.12:g.71938373T>A, NG_008279.1:g.4528=, NC_000012.11:g.72332153T>A, NC_000012.11:g.72332153=, rs11178997, 11178997, NC_000012.12:g.71938373=, 56853432 +PA166163155 rs11178998 PA128747823 TPH2 NC_000012.12:71938935 1 0 0 0 0 NC_000012.11:g.72332715A>G, NC_000012.12:g.71938935=, NC_000012.12:g.71938935A>G, NG_008279.1:g.5090=, NC_000012.11:g.72332715=, rs11178998, NG_008279.1:g.5090A>G, 11178998 +PA166157831 rs11185647 PA34890 RXRA NC_000009.12:134323982 1 1 0 0 0 NW_004070868.1:g.137606G>A, NC_000009.12:g.134323982G>A, NC_000009.11:g.137215828=, rs11185647, NC_000009.11:g.137215828G>A, 60398520, rs60398520, 11185647, NC_000009.12:g.134323982= +PA166159089 rs11185648 NC_000009.12:134324229 1 1 0 0 0 rs11185648, NC_000009.12:g.134324229=, NC_000009.12:g.134324229C>T, NC_000009.11:g.137216075=, 11185648, 58291065, NC_000009.11:g.137216075C>T +PA166153916 rs111858276 PA145 DPYD NC_000001.11:97549600 1 0 0 1 0 XM_005270561.1:c.1373A>G, NG_008807.2:g.376460=, NP_000101.2:p.Asp495=, NC_000001.11:g.97549600T>C, XP_006710460.1:p.Asp495Gly, rs111858276, NG_008807.2:g.376460A>G, XP_005270618.1:p.Asp458Gly, XP_005270619.2:p.Asp495Gly, NM_000110.3:c.1484A>G, XM_006710397.2:c.1484A>G, XP_005270619.1:p.Asp495Gly, NC_000001.11:g.97549600=, XP_005270621.1:p.Asp495Gly, XM_005270562.3:c.1484A>G, NP_000101.2:p.Asp495Gly, XM_005270562.1:c.1484A>G, XM_005270564.1:c.1484A>G, NC_000001.10:g.98015156=, NC_000001.10:g.98015156T>C, XP_005270620.1:p.Asp495Gly, XM_005270563.1:c.1484A>G, 111858276 +PA166305661 rs111860321 NC_000016.10:12826709 1 0 0 0 0 111860321, NC_000016.9:g.12920566=, rs111860321, NC_000016.10:g.12826709=, NC_000016.10:g.12826709T>C, NC_000016.9:g.12920566T>C +PA166261985 rs111869995 PA121 CYP2A6 NC_000019.10:40846881 1 1 0 0 0 NP_000753.3:p.Met275Ile, NG_008377.1:g.8567=, rs111869995, NC_000019.9:g.41352786C>A, 111869995, NC_000019.10:g.40846881=, NC_000019.10:g.40846881C>A, NC_000019.9:g.41352786=, NG_008377.1:g.8567G>T, NP_000753.3:p.Met275= +PA166271642 rs11188059 PA127 CYP2C18 NC_000010.11:94709142 4 0 0 0 0 NC_000010.10:g.96468899=, NC_000010.10:g.96468899G>A, NG_008373.1:g.30649=, 11188059, NC_000010.11:g.94709142=, 56421999, NG_008373.1:g.30649G>A, NC_000010.11:g.94709142G>A, rs11188059, 57877166 +PA166154127 rs11188072 PA124 CYP2C19 NC_000010.11:94759304 7 1 0 0 0 NG_008384.2:g.1599C>T, rs11188072, NC_000010.11:g.94759304C>T, NC_000010.11:g.94759304=, NG_008384.3:g.1624C>T, 11188072, NG_008384.3:g.1624=, NC_000010.10:g.96519061C>T, NC_000010.10:g.96519061= +PA166281221 rs11188082 PA124 CYP2C19 NC_000010.11:94808278 1 0 0 0 0 11498701, NC_000010.11:g.94808278A>C, NC_000010.10:g.96568035A>T, NG_008384.3:g.50598A>T, NC_000010.11:g.94808278=, NG_008384.3:g.50598A>G, 12779944, NC_000010.10:g.96568035=, 11188082, rs11188082, NC_000010.10:g.96568035A>G, NC_000010.11:g.94808278A>T, NG_008384.3:g.50598A>C, NC_000010.10:g.96568035A>C, NG_008384.3:g.50598=, NC_000010.11:g.94808278A>G +PA166155524 rs111888148 PA34896 RYR1 NC_000019.10:38455463 4 1 0 1 0 NC_000019.9:g.38946103G>A, NP_001036188.1:p.Arg530His, XP_006723382.1:p.Arg530His, XP_011525507.1:p.Arg530Leu, XM_006723317.1:c.1589G>T, XP_006723382.1:p.Arg530Leu, NP_001036188.1:p.Arg530Leu, 111888148, XM_006723319.1:c.1589G>T, XM_011527205.1:c.1589G>T, NG_008866.1:g.26764G>T, XM_011527205.1:c.1589G>A, XP_011525507.1:p.Arg530His, NC_000019.9:g.38946103G>T, XP_006723380.1:p.Arg530His, NM_001042723.1:c.1589G>T, XP_011525506.1:p.Arg529Leu, XP_011525506.1:p.Arg529His, XP_006723380.1:p.Arg530Leu, NC_000019.10:g.38455463G>A, NG_008866.1:g.26764G>A, NP_000531.2:p.Arg530=, NC_000019.9:g.38946103=, XM_011527204.1:c.1586G>T, NM_000540.2:c.1589G>T, NG_008866.1:g.26764=, NM_000540.2:c.1589G>A, NP_000531.2:p.Arg530Leu, XM_006723317.1:c.1589G>A, rs111888148, NC_000019.10:g.38455463G>T, XM_006723319.1:c.1589G>A, NP_000531.2:p.Arg530His, XM_011527204.1:c.1586G>A, NM_001042723.1:c.1589G>A, NC_000019.10:g.38455463= +PA166154128 rs11189015 PA35938 SLIT1 NC_000010.11:97152179 1 1 0 0 0 NC_000010.10:g.98911936=, NC_000010.10:g.98911936G>C, NC_000010.11:g.97152179=, rs11189015, 11189015, NC_000010.11:g.97152179G>A, NC_000010.11:g.97152179G>C, NM_003061.2:c.413+5639C>G, NC_000010.10:g.98911936G>A +PA166154129 rs11189381 PA35695 SFRP5 NC_000010.11:97803441 1 1 0 0 0 NC_000010.10:g.99563198T>C, NC_000010.10:g.99563198=, rs11189381, 11189381, NC_000010.11:g.97803441=, rs59728961, NC_000010.11:g.97803441T>C, 59728961 +PA166157223 rs111901354 PA356 TPMT NC_000006.12:18143718 6 6 6 0 0 NP_000358.1:p.Arg82=, NC_000006.12:g.18143718=, XP_011513141.1:p.Arg82Gly, XM_011514840.1:c.175C>G, NC_000006.11:g.18143949=, 111901354, NG_012137.2:g.16426C>T, NM_000367.3:c.244C>G, XP_011513141.1:p.Arg82Trp, XM_011514839.1:c.244C>G, rs111901354, XM_011514840.1:c.175C>T, NG_012137.2:g.16426C>G, NM_000367.3:c.244C>T, NP_000358.1:p.Arg82Trp, NC_000006.11:g.18143949G>A, NC_000006.12:g.18143718G>C, NP_000358.1:p.Arg82Gly, NC_000006.11:g.18143949G>C, NC_000006.12:g.18143718G>A, XP_011513142.1:p.Arg59Trp, XM_011514839.1:c.244C>T, XP_011513142.1:p.Arg59Gly, NG_012137.2:g.16426= +PA166195382 rs111906529 PA164722627,PA164722699,PA164722706 MIR299,MIR380,MIR411 NC_000014.9:101023366 1 0 0 0 0 rs111906529, NC_000014.9:g.101023366T>C, NG_045000.5:g.192098=, 111906529, NC_000014.8:g.101489703=, NC_000014.9:g.101023366=, NC_000014.8:g.101489703T>C, NG_045000.5:g.192098T>C +PA166154130 rs11191439 PA134896392 AS3MT NC_000010.11:102878966 2 0 0 0 0 17885947, XM_005269994.1:c.860T>C, rs17885947, XM_005269992.1:c.1064T>C, 11191439, XP_005270051.1:p.Met287Thr, rs17884200, rs17725209, NP_065733.2:p.Met287Lys, XM_005269993.1:c.860T>C, XP_005270049.1:p.Met355Thr, 17725209, NC_000010.10:g.104638723=, rs11191439, NP_065733.2:p.Met287Thr, 17884200, NC_000010.11:g.102878966T>C, NC_000010.11:g.102878966=, NR_037644.1:n.1265T>C, NC_000010.11:g.102878966T>A, NP_065733.2:p.Met287=, NM_020682.3:c.860T>C, NC_000010.10:g.104638723T>C, NC_000010.10:g.104638723T>A, XP_005270050.1:p.Met287Thr +PA166154131 rs11191548 PA26669 CNNM2 NC_000010.11:103086421 2 0 0 0 0 56425857, NC_000010.10:g.104846178T>C, NG_042272.1:g.111886A>G, 11191548, rs56425857, NC_000010.10:g.104846178=, rs11191548, NG_042272.1:g.111886=, rs56937167, NC_000010.11:g.103086421T>C, 56937167, NC_000010.11:g.103086421= +PA166154132 rs11191561 PA31801 NT5C2 NC_000010.11:103109774 1 1 0 0 0 XM_005269639.1:c.89-3068G>C, 52823845, NC_000010.11:g.103109774C>G, XM_005269633.1:c.176-3068G>C, XM_005269639.3:c.89-3068G>C, XM_006717723.2:c.-280-3973G>C, XM_005269636.1:c.176-3068G>C, XM_005269645.3:c.-423+1971G>C, XM_005269640.1:c.-399+1971G>C, NM_001134373.2:c.176-3068G>C, XM_006717722.2:c.-280-3973G>C, XM_011539537.1:c.176-3068G>C, XM_005269643.1:c.-398-3068G>C, XM_011539534.1:c.176-3068G>C, XM_005269641.1:c.-399+1971G>C, XM_005269646.3:c.-423+1971G>C, rs11191561, NC_000010.10:g.104869531C>T, 11191561, XM_005269634.3:c.176-3068G>C, XM_005269640.3:c.-399+1971G>C, XM_005269642.1:c.-399+1971G>C, XM_005269632.1:c.176-3068G>C, NC_000010.10:g.104869531C>G, 56602986, XM_005269644.3:c.-423+1971G>C, XM_005269646.1:c.-423+1971G>C, XM_005269635.1:c.176-3068G>C, XM_005269638.3:c.80-3068G>C, XM_005269637.3:c.89-3068G>C, XM_005269637.1:c.89-3068G>C, XM_005269638.1:c.80-3068G>C, XM_005269642.3:c.-399+1971G>C, NG_042272.1:g.88533G>C, NC_000010.10:g.104869531=, XM_005269633.3:c.176-3068G>C, XM_006717724.2:c.-304-3973G>C, rs52823845, NG_042272.1:g.88533=, XM_005269636.3:c.176-3068G>C, NC_000010.11:g.103109774=, XM_011539535.1:c.67+1971G>C, XM_011539536.1:c.83-3068G>C, NG_042272.1:g.88533G>A, XM_005269644.1:c.-423+1971G>C, XM_005269634.1:c.176-3068G>C, rs56602986, XM_005269645.1:c.-423+1971G>C, XM_005269643.3:c.-398-3068G>C, XM_005269641.3:c.-399+1971G>C, XM_006717721.2:c.-399+1971G>C, XM_005269632.3:c.176-3068G>C, NM_012229.4:c.176-3068G>C, XM_005269635.3:c.176-3068G>C, NC_000010.11:g.103109774C>T +PA166160446 rs11191612 NC_000010.11:103209821 2 0 0 0 0 NC_000010.10:g.104969578A>T, NC_000010.10:g.104969578=, 11524350, NC_000010.11:g.103209821=, NC_000010.11:g.103209821A>G, rs11191612, 11191612, NC_000010.10:g.104969578A>G, NC_000010.11:g.103209821A>T +PA166170854 rs11195418 PA35 ADRA2A NC_000010.11:111075401 1 0 0 0 0 NC_000010.10:g.112835159=, NG_012020.1:g.3370=, NG_012020.1:g.3370A>G, rs11195418, 11195418, NC_000010.11:g.111075401A>G, NC_000010.11:g.111075401=, NC_000010.10:g.112835159A>G +PA166154133 rs11195419 PA35 ADRA2A NC_000010.11:111079610 3 0 0 0 0 59647574, rs59647574, NC_000010.11:g.111079610=, rs11195419, NC_000010.10:g.112839368=, NM_000681.3:c.*216C>A, NG_012020.1:g.7579=, NC_000010.11:g.111079610C>A, 11195419, NG_012020.1:g.7579C>A, NC_000010.10:g.112839368C>A +PA166182524 rs11196205 PA36394 TCF7L2 NC_000010.11:113047288 1 0 0 0 0 NG_012631.1:g.102039=, 56795068, NG_012631.1:g.102039G>T, NC_000010.11:g.113047288=, 11196205, NC_000010.11:g.113047288G>C, NC_000010.10:g.114807047G>C, NC_000010.11:g.113047288G>A, NC_000010.10:g.114807047G>A, NG_012631.1:g.102039G>C, NC_000010.11:g.113047288G>T, rs11196205, NC_000010.10:g.114807047G>T, NG_012631.1:g.102039G>A, 60290206, NC_000010.10:g.114807047= +PA166154134 rs11198804 PA27699,PA38093 EIF3A,SFXN4 NC_000010.11:119150273 1 0 0 0 0 56640007, XM_005269525.3:c.706-2413G>A, NG_033895.1:g.20420G>A, NG_033895.1:g.20420=, NR_110305.1:n.751-2413G>A, NC_000010.11:g.119150273C>T, 11198804, XR_246071.1:n.768-2413G>A, XM_011539282.1:c.385-2413G>A, NC_000010.10:g.120909785=, XM_005269527.1:c.385-2413G>A, XR_246070.1:n.795-2413G>A, NM_213649.1:c.733-2413G>A, NC_000010.11:g.119150273=, XM_005269525.1:c.706-2413G>A, rs11198804, XM_005269526.1:c.385-2413G>A, NC_000010.10:g.120909785C>T, rs56640007, XR_945603.1:n.795-2413G>A +PA166274203 rs11198893 PA180 GRK5 NC_000010.11:119348388 1 1 0 0 0 NC_000010.11:g.119348388=, NC_000010.10:g.121107900G>C, 56461856, 11198893, rs11198893, NC_000010.11:g.119348388G>A, NC_000010.10:g.121107900G>A, 57093274, NC_000010.11:g.119348388G>C, NC_000010.10:g.121107900= +PA166154135 rs11200638 PA33829 HTRA1 NC_000010.11:122461028 4 1 0 0 0 rs11200638, XR_946383.1:n.331C>T, NM_002775.4:c.-625G>A, NC_000010.11:g.122461028G>A, NG_011554.1:g.4504G>A, XR_946385.1:n.331C>T, XR_946384.1:n.331C>T, 11200638, NG_011554.1:g.4504=, NC_000010.10:g.124220544=, NC_000010.10:g.124220544G>A, XR_946382.1:n.331C>T, NC_000010.11:g.122461028= +PA166153820 rs11206244 PA27337 DIO1 NC_000001.11:53910028 1 0 0 0 0 11206244, XM_005270556.1:c.*29C>T, 59951018, NC_000001.10:g.54375701=, NM_001039715.1:c.*29C>T, rs17479322, NC_000001.10:g.54375701C>T, XM_005270554.1:c.*29C>T, NG_023306.1:g.20841C>T, NM_001039716.1:c.*93C>T, 17479322, NM_000792.5:c.*29C>T, rs11206244, XM_005270555.1:c.*29C>T, NC_000001.11:g.53910028C>T, NC_000001.11:g.53910028=, NG_023306.1:g.20841=, NM_213593.3:c.*29C>T, rs59951018 +PA166160559 rs11209026 PA134935109 IL23R NC_000001.11:67240275 4 1 0 0 0 57726222, NG_011498.1:g.78790G>A, NP_653302.2:p.Arg381Gln, NG_011498.1:g.78790=, rs11209026, NC_000001.10:g.67705958=, 11209026, 56481592, NC_000001.11:g.67240275=, NC_000001.10:g.67705958G>A, NC_000001.11:g.67240275G>A, NP_653302.2:p.Arg381= +PA166153821 rs11209716 PA288 PTGER3 NC_000001.11:70911967 1 1 0 0 0 XM_005271052.1:c.1104+41796A>G, NG_029509.2:g.140842=, rs11209716, XM_011541810.1:c.1170-59108A>G, XR_946714.1:n.1341+41796A>G, NC_000001.11:g.70911967T>C, NR_028294.1:n.1335+41796A>G, NM_198717.1:c.1078-59108A>G, NM_198714.1:c.*23+41796A>G, NM_198716.1:c.1104+41796A>G, NC_000001.10:g.71377650=, 11209716, XM_005271051.1:c.1104+41796A>G, NR_028292.1:n.1335+41796A>G, XM_005271053.1:c.1078-42648A>G, 17482834, NG_029509.1:g.140842A>G, NG_029509.1:g.140842=, NR_028293.1:n.1309-42648A>G, XM_011541811.1:c.1105-2022A>G, NG_029509.2:g.140842A>G, NC_000001.11:g.70911967=, XM_011541809.1:c.1104+41796A>G, rs17482834, NC_000001.10:g.71377650T>C +PA166153822 rs11211524 PA162382539 CMPK1 NC_000001.11:47367541 2 1 0 0 0 NM_001136140.1:c.172-5414A>C, 11211524, NC_000001.11:g.47367541A>C, NC_000001.10:g.47833213=, NC_000001.10:g.47833213A>G, NC_000001.11:g.47367541A>G, NC_000001.11:g.47367541=, NC_000001.10:g.47833213A>C, NM_016308.2:c.172-928A>C, NR_046394.1:n.321-928A>C, rs11211524 +PA166181260 rs11212570 PA61 ATM NC_000011.10:108259985 2 0 0 0 0 NG_009830.1:g.42154G>A, NC_000011.9:g.108130712=, rs11212570, NG_009830.1:g.42154=, NC_000011.10:g.108259985G>T, NC_000011.9:g.108130712G>A, NC_000011.10:g.108259985G>A, 57778137, NG_009830.1:g.42154G>T, NC_000011.9:g.108130712G>T, NC_000011.10:g.108259985=, 11212570, 386517535 +PA166154450 rs11212617 PA61,PA144596484 ATM,C11orf65 NC_000011.10:108412434 8 1 0 0 0 NC_000011.9:g.108283161C>A, XM_005271414.3:c.175-5285G>T, XM_011542640.1:c.175-5285G>T, XM_011542639.1:c.175-5285G>T, NG_054724.1:g.62399G>T, NC_000011.10:g.108412434C>A, XM_005271416.1:c.82-5471G>T, NC_000011.9:g.108283161=, NM_152587.3:c.175-5285G>T, XM_011542643.1:c.175-5285G>T, NC_000011.10:g.108412434=, 11212617, XM_005271412.1:c.175-5471G>T, XM_005271413.2:c.82-5285G>T, XM_005271413.1:c.82-5285G>T, rs11212617, NG_054724.1:g.62399=, XM_005271415.1:c.175-5285G>T, XM_011542642.1:c.175-5285G>T, XM_005271414.1:c.175-5285G>T, XM_011542641.1:c.82-5471G>T, XM_005271412.2:c.175-5471G>T, XM_005271415.3:c.175-5285G>T +PA166185216 rs11214607 PA27478 DRD2 NC_000011.10:113441417 3 0 0 0 0 11214607, 57978011, NC_000011.10:g.113441417=, rs11214607, NG_008841.1:g.38863=, NC_000011.10:g.113441417T>G, NG_008841.1:g.38863A>C, NC_000011.9:g.113312139T>G, NC_000011.9:g.113312139= +PA166154451 rs11214763 PA29556 HTR3B NC_000011.10:113904173 2 0 0 0 0 NG_011483.1:g.4307G>A, NC_000011.9:g.113774895=, 11214763, NM_006028.4:c.-761G>A, rs11214763, NC_000011.10:g.113904173G>A, NC_000011.10:g.113904173=, NC_000011.9:g.113774895G>A, XM_011543064.1:c.12+5090G>A, NG_011483.1:g.4307= +PA166154452 rs11216158 PA49 APOA1 NC_000011.10:116840634 1 0 0 0 0 NG_012021.1:g.1989C>T, NC_000011.9:g.116711350=, NG_012021.1:g.1989=, NC_000011.9:g.116711350G>A, NR_126362.1:n.123+4395G>A, 11216158, rs11216158, rs34382649, NC_000011.10:g.116840634G>A, 34382649, NC_000011.10:g.116840634= +PA166155009 rs1121980 PA152208656 FTO NC_000016.10:53775335 1 0 0 0 0 NM_001080432.2:c.46-34805G>A, rs386517572, rs17817365, XM_011523314.1:c.46-34805G>A, NG_012969.1:g.76373=, XM_011523313.1:c.46-34805G>A, NC_000016.9:g.53809247G>C, NC_000016.9:g.53809247G>A, NC_000016.10:g.53775335=, rs57587933, NC_000016.10:g.53775335G>A, NG_012969.1:g.76373G>A, XM_011523316.1:c.46-34805G>A, 17817365, NC_000016.9:g.53809247=, 57587933, NC_000016.10:g.53775335G>C, 1121980, rs1121980, 386517572, XM_011523315.1:c.46-34805G>A, NG_012969.1:g.76373G>C +PA166178431 rs112242273 PA31548 NEK4 NC_000003.12:52741044 1 1 0 0 0 112242273, NC_000003.11:g.52775060C>T, NG_053026.1:g.34906G>A, NC_000003.11:g.52775060=, rs112242273, NC_000003.12:g.52741044C>T, NC_000003.12:g.52741044=, NG_053026.1:g.34906= +PA166154453 rs11224556 PA266 PGR NC_000011.10:101028882 1 0 0 0 0 NC_000011.10:g.101028882A>G, NC_000011.9:g.100899613A>T, NG_016475.1:g.105932T>G, NG_016475.1:g.105932=, rs11224556, NC_000011.10:g.101028882A>C, NC_000011.9:g.100899613A>C, 11224556, NC_000011.10:g.101028882=, NC_000011.9:g.100899613A>G, NC_000011.9:g.100899613=, NG_016475.1:g.105932T>A, NG_016475.1:g.105932T>C, NC_000011.10:g.101028882A>T +PA166154490 rs11226 PA34180 RAD52 NC_000012.12:912647 2 1 0 0 0 XM_005253721.1:c.*744C>T, XM_005253722.1:c.*744C>T, NG_017078.2:g.82395=, 57985635, XM_005253720.1:c.*744C>T, NC_000012.12:g.912647G>A, XM_011520991.1:c.*744C>T, NG_007984.3:g.164589=, XM_011520990.1:c.*744C>T, NM_134424.3:c.*744C>T, NG_017078.2:g.82395C>T, XR_931522.1:n.2163C>T, 11226, NC_000012.11:g.1021813=, NG_007984.2:g.164589G>A, NM_001297421.1:c.*744C>T, XM_005253721.2:c.*744C>T, rs11571479, NG_007984.3:g.164589G>A, NR_123713.1:n.2422C>T, 3192069, NC_000012.11:g.1021813G>A, rs3192069, XM_011520992.1:c.*744C>T, rs11226, XM_011520995.1:c.*744C>T, NC_000012.12:g.912647=, rs57985635, XM_005253720.3:c.*744C>T, XM_005253723.1:c.*744C>T, XR_242986.1:n.2266C>T, 11571479, NM_001297419.1:c.*744C>T, XR_931521.1:n.2088C>T +PA166203341 rs11227247 PA296 RELA NC_000011.10:65655382 1 1 0 0 0 NG_029971.1:g.12591T>G, NC_000011.9:g.65422853=, rs11227247, NC_000011.10:g.65655382A>C, 57206800, 11227247, NC_000011.10:g.65655382=, NG_029971.1:g.12591=, NC_000011.9:g.65422853A>C +PA166201528 rs11229 PA25263 PRRC2A NC_000006.12:31635993 1 1 0 0 0 61060019, 115684164, 3173343, 117815293, NC_000006.11:g.31603770=, NC_000006.12:g.31635993=, NC_000006.11:g.31603770A>G, 11229, 56587188, 17354367, 52803694, 9267522, rs11229, NP_004629.3:p.Gln1856=, 1046090, 17398279, NC_000006.12:g.31635993A>G +PA166154454 rs11231809 PA38295 SLC22A11 NC_000011.10:64535478 2 1 0 0 0 11231809, NC_000011.10:g.64535478T>A, NC_000011.9:g.64302950T>G, rs11231809, rs60605965, NC_000011.9:g.64302950=, NC_000011.9:g.64302950T>A, 60605965, NC_000011.10:g.64535478=, NC_000011.10:g.64535478T>G +PA166154455 rs11231825 PA38478 SLC22A12 NC_000011.10:64592802 1 1 0 0 0 NG_008110.1:g.6993T>C, NM_001276326.1:c.426T>C, XP_005273803.1:p.His142=, NC_000011.9:g.64360274=, NC_000011.10:g.64592802T>C, NC_000011.10:g.64592802=, XM_005273744.1:c.426T>C, XP_005273801.1:p.His142=, XM_005273741.1:c.426T>C, NG_008110.1:g.6993=, XM_006718431.2:c.321T>C, XP_005273802.1:p.His142=, rs17859573, XP_006718493.1:p.His142=, 60376821, NC_000011.9:g.64360274T>C, XM_005273745.1:c.426T>C, NM_001276327.1:c.426T>C, XM_005273740.1:c.426T>C, rs11231825, XM_005273746.1:c.426T>C, XP_005273797.1:p.His142=, rs60376821, NM_153378.2:c.-83T>C, NM_144585.3:c.426T>C, XP_005273798.1:p.His142=, 11231825, XM_005273743.1:c.426T>C, XP_005273799.1:p.His142=, XP_006718494.1:p.His107=, NP_653186.2:p.His142=, XM_005273747.1:c.-764T>C, rs17846504, XM_006718430.2:c.426T>C, 17846504, XM_005273742.1:c.426T>C, NP_001263255.1:p.His142=, XP_005273800.1:p.His142=, 17859573, NP_001263256.1:p.His142= +PA166157224 rs112339338 PA356 TPMT NC_000006.12:18138970 6 6 6 0 0 rs112339338, NG_012137.2:g.21174C>T, NC_000006.12:g.18138970G>A, NC_000006.11:g.18139201=, NC_000006.11:g.18139201G>T, 112339338, NP_000358.1:p.Arg163Ser, NP_000358.1:p.Arg163Cys, NC_000006.12:g.18138970=, NP_000358.1:p.Arg163=, XP_011513142.1:p.Arg140Cys, NG_012137.2:g.21174=, XP_011513141.1:p.Arg163Cys, NG_012137.2:g.21174C>A, XM_011514839.1:c.487C>T, XM_011514840.1:c.418C>T, NC_000006.11:g.18139201G>A, NM_000367.3:c.487C>T, NC_000006.12:g.18138970G>T +PA166155278 rs1123617 PA35811 SLC14A2 NC_000018.10:45672918 2 1 0 0 0 NC_000018.10:g.45672918G>A, XP_011524518.1:p.Val750Ile, NC_000018.9:g.43252883G>A, NC_000018.10:g.45672918=, NP_009094.3:p.Val750Phe, NC_000018.9:g.43252883G>T, rs59629208, XM_011526217.1:c.2113G>A, NP_009094.3:p.Val750Ile, 1123617, rs1123617, NC_000018.9:g.43252883=, NP_009094.3:p.Val750=, NM_007163.3:c.2248G>A, 59629208, rs386517691, 52814222, 2276315, 386517691, rs52814222, NP_001229621.1:p.Val750Ile, XM_011526216.1:c.2248G>A, NM_001242692.1:c.2248G>A, rs2276315, NC_000018.10:g.45672918G>T, XP_011524519.1:p.Val705Ile +PA166153823 rs11240594 PA37886 SLC26A9 NC_000001.11:205927107 1 0 0 0 0 rs11240594, rs57200172, XM_011509124.1:c.1293+104C>T, XM_011509122.1:c.801+104C>T, XM_011509123.1:c.1293+104C>T, 11240594, NM_052934.3:c.1293+104C>T, NC_000001.11:g.205927107=, NC_000001.11:g.205927107G>A, 56626684, XR_921737.1:n.1419+104C>T, XM_011509121.1:c.1026+104C>T, rs56626684, NC_000001.10:g.205896235=, NC_000001.10:g.205896235G>A, 57200172, NM_134325.2:c.1293+104C>T +PA166153824 rs11240688 PA297 REN NC_000001.11:204165394 1 0 0 0 0 NG_046884.1:g.3329G>A, NC_000001.11:g.204165394G>A, rs11240688, rs52829703, NG_046884.1:g.3329=, NG_012122.1:g.5944C>T, NC_000001.10:g.204134522G>A, NC_000001.10:g.204134522=, 11240688, 52829703, NC_000001.11:g.204165394=, NG_012122.1:g.5944=, NM_000537.3:c.98+802C>T +PA166154663 rs112445441 PA30196 KRAS NC_000012.12:25245347 8 1 0 0 0 XM_011520653.1:c.38G>A, XM_011520653.1:c.38G>C, NG_007524.1:g.10574G>A, XP_006719132.1:p.Gly13Ala, NP_004976.2:p.Gly13=, XP_005253422.1:p.Gly13Ala, XP_005253422.1:p.Gly13Val, NP_203524.1:p.Gly13Val, XM_011520653.1:c.38G>T, XP_011518955.1:p.Gly13Asp, NG_007524.1:g.10574G>C, NG_007524.2:g.10657G>T, NP_004976.2:p.Gly13Ala, 112445441, XP_006719132.1:p.Gly13Val, NP_004976.2:p.Gly13Val, NC_000012.11:g.25398281=, NG_007524.2:g.10657G>A, NG_007524.2:g.10657G>C, NM_004985.4:c.38G>C, NM_004985.4:c.38G>A, NP_203524.1:p.Gly13Asp, NC_000012.12:g.25245347=, XM_005253365.1:c.38G>C, NM_004985.4:c.38G>T, XM_005253365.1:c.38G>A, NP_004976.2:p.Gly13Asp, NG_007524.2:g.10657=, NC_000012.12:g.25245347C>A, NM_033360.3:c.38G>T, XM_005253365.1:c.38G>T, NP_203524.1:p.Gly13Ala, NC_000012.11:g.25398281C>A, NC_000012.12:g.25245347C>G, XM_006719069.2:c.38G>T, NG_007524.1:g.10574G>T, XP_011518955.1:p.Gly13Ala, XP_006719132.1:p.Gly13Asp, XP_005253422.1:p.Gly13Asp, NM_033360.3:c.38G>A, NM_033360.3:c.38G>C, NC_000012.11:g.25398281C>G, NC_000012.12:g.25245347C>T, XM_006719069.2:c.38G>A, XP_011518955.1:p.Gly13Val, NC_000012.11:g.25398281C>T, XM_006719069.2:c.38G>C, rs112445441, NG_007524.1:g.10574= +PA166161290 rs1124491 PA27478 DRD2 NC_000011.10:113411368 1 1 0 0 0 NG_008841.1:g.68912C>T, rs1124491, NC_000011.10:g.113411368G>A, NC_000011.10:g.113411368G>C, NC_000011.9:g.113282090=, NG_008841.1:g.68912C>G, NC_000011.9:g.113282090G>C, NC_000011.9:g.113282090G>A, NC_000011.10:g.113411368=, 17115521, NG_008841.1:g.68912=, 1124491 +PA166154318 rs1124493 PA27478 DRD2 NC_000011.10:113411573 1 1 0 0 0 NC_000011.10:g.113411573T>G, NG_008841.1:g.68707=, rs1124493, NG_008841.1:g.68707A>C, NM_000795.3:c.1139-653A>C, NC_000011.10:g.113411573=, NM_016574.3:c.1052-653A>C, XM_005271426.1:c.1136-653A>C, 1124493, XM_005271425.1:c.1139-653A>C, NC_000011.9:g.113282295=, NC_000011.9:g.113282295T>G +PA166154456 rs11246226 PA27480 DRD4 NC_000011.10:641191 1 0 0 0 0 NT_187586.1:g.171060A=, NC_000011.9:g.641191=, NG_021241.1:g.8887C>G, NG_021241.1:g.8887=, rs11246226, NC_000011.10:g.641191C>A, NG_021241.1:g.8887C=, NC_000011.10:g.641191=, 58546708, NC_000011.10:g.641191C>G, NM_000797.3:c.*588A>C, NM_000797.3:c.*588C>A, 11246226, NC_000011.9:g.641191C>G, NC_000011.10:g.641191C=, NM_000797.3:c.*103+485C>A, rs58546708, NG_021241.1:g.8887C>A, NT_187586.1:g.171060A>C, NC_000011.9:g.641191C>A +PA166182190 rs11249454 PA37184,PA142670640 UGT2A1,UGT2A2 NC_000004.12:69633516 1 1 0 0 0 56434932, NC_000004.12:g.69633516T>C, NC_000004.12:g.69633516=, 11249454, NC_000004.11:g.70499234=, rs11249454, NC_000004.11:g.70499234T>C, 56871375 +PA166177321 rs11250159 PA28587 GATA4 NC_000008.11:11729725 1 0 0 0 0 61494606, NC_000008.11:g.11729725=, NC_000008.11:g.11729725G>T, NC_000008.10:g.11587234G>T, NG_008177.2:g.57807G>T, NC_000008.10:g.11587234=, 11250159, NC_000008.11:g.11729725G>A, NG_008177.2:g.57807G>A, rs11250159, NG_008177.2:g.57807=, NC_000008.10:g.11587234G>A +PA166177326 rs11250163 PA28587 GATA4 NC_000008.11:11738928 1 0 0 0 0 NC_000008.11:g.11738928=, rs11250163, NG_008177.2:g.67010A>C, NC_000008.10:g.11596437=, NC_000008.11:g.11738928A>C, NC_000008.10:g.11596437A>C, NG_008177.2:g.67010=, 57347069, 11250163 +PA166154136 rs11252394 NC_000010.11:4198678 1 1 0 0 0 11252394, NC_000010.10:g.4240870=, rs11252394, NC_000010.10:g.4240870G>A, NC_000010.11:g.4198678G>A, NC_000010.11:g.4198678=, rs60363200, 60363200 +PA166154137 rs11253043 PA24680 AKR1C4 NC_000010.11:5205791 1 1 0 0 0 NC_000010.10:g.5247754=, NC_000010.11:g.5205791=, XM_011519303.1:c.404G>A, NP_001809.3:p.Gly135Glu, NG_031872.1:g.13957=, rs52789893, NW_003871071.1:g.235457G>A, NP_001809.3:p.Gly135=, rs11253043, NP_001809.3:p.Gly135Ala, NC_000010.11:g.5205791G>A, NG_031872.1:g.13957G>C, NG_031872.1:g.13957G>A, NC_000010.11:g.5205791G>C, 52789893, NC_000010.10:g.5247754G>A, XP_011517605.1:p.Gly135Glu, NC_000010.10:g.5247754G>C, NM_001818.3:c.404G>A, 11253043 +PA166154319 rs1125394 PA27478 DRD2 NC_000011.10:113426463 3 2 0 0 0 rs1125394, NC_000011.10:g.113426463T>C, 1125394, rs3758916, 57732243, 3758916, NG_008841.1:g.53817A>G, XM_005271426.1:c.-1812A>G, NC_000011.9:g.113297185T>C, NC_000011.10:g.113426463=, NM_016574.3:c.-31-1781A>G, rs57732243, NG_008841.1:g.53817=, NM_000795.3:c.-31-1781A>G, NC_000011.9:g.113297185=, XM_005271425.1:c.-31-1781A>G +PA166156698 rs112561475 PA37186 UGT2B10 NC_000004.12:68830733 1 1 0 0 0 rs144327801, NP_001066.1:p.Asn481Asp, 144327801, NM_001075.5:c.1441A>G, NP_001277020.1:p.Asn233Asp, NC_000004.12:g.68830733A>G, NM_001144767.2:c.1189A>G, rs112561475, NM_001290091.1:c.697A>G, NP_001138239.1:p.Asn397Asp, NC_000004.11:g.69696451=, NC_000004.12:g.68830733=, NT_167250.2:g.406752A>G, NT_167250.1:g.408702A>G, NC_000004.11:g.69696451A>G, 112561475, NP_001066.1:p.Asn481= +PA166155526 rs112563513 PA34896 RYR1 NC_000019.10:38499223 9 1 1 1 0 XM_006723319.1:c.7007G>A, XP_011525507.1:p.Arg2336His, NC_000019.10:g.38499223=, NP_001036188.1:p.Arg2336His, XP_006723382.1:p.Arg2336His, XM_011527205.1:c.7007G>A, NM_000540.2:c.7007G>A, NP_000531.2:p.Arg2336His, NG_008866.1:g.70524=, NC_000019.9:g.38989863=, NC_000019.9:g.38989863G>A, XM_011527204.1:c.7004G>A, NP_000531.2:p.Arg2336=, NM_001042723.1:c.7007G>A, NG_008866.1:g.70524G>A, XP_006723380.1:p.Arg2336His, XP_011525506.1:p.Arg2335His, rs112563513, XM_006723317.1:c.7007G>A, 112563513, NC_000019.10:g.38499223G>A +PA166153825 rs11264359 PA28075,PA134947113 FDPS,RUSC1 NC_000001.11:155313038 2 1 0 0 0 NM_001242824.1:c.282+643A>G, rs61019766, NG_045218.1:g.9291A>C, rs11264359, 11264359, NC_000001.10:g.155282829A>G, NG_045218.1:g.9291A>G, XM_005244962.1:c.282+643A>G, NC_000001.11:g.155313038A>T, NC_000001.10:g.155282829=, NC_000001.10:g.155282829A>C, NM_001242825.1:c.-34+643A>G, XM_005244963.1:c.282+643A>G, NM_002004.3:c.480+643A>G, NG_045218.1:g.9291A>T, NG_045218.1:g.9291=, NM_001135821.1:c.480+643A>G, NM_001135822.1:c.282+643A>G, NC_000001.11:g.155313038=, NC_000001.11:g.155313038A>C, 61019766, NC_000001.10:g.155282829A>T, NC_000001.11:g.155313038A>G +PA166157720 rs1126442 PA28978 GRIN1 NC_000009.12:137156924 1 1 0 0 0 NC_000009.12:g.137156924G>A, rs1126442, NM_001185090.1:c.918G>A, XM_005266071.2:c.855G>A, XP_005266128.1:p.Val285=, 1126442, NP_001172020.1:p.Val306=, XM_005266073.1:c.918G>A, XP_005266129.1:p.Val306=, NM_007327.3:c.855G>A, XP_005266130.1:p.Val306=, NM_021569.3:c.855G>A, NP_015566.1:p.Val285=, NG_011507.1:g.22768G>A, NP_000823.4:p.Val285=, NP_067544.1:p.Val285=, NM_001185091.1:c.918G>A, NG_011507.1:g.22768=, XM_005266072.2:c.918G>A, XM_005266073.3:c.918G>A, XP_011516885.1:p.Val306=, XR_930457.1:n.-263C>T, NC_000009.12:g.137156924=, NC_000009.11:g.140051376=, XM_005266072.1:c.918G>A, rs3181456, XM_011518583.1:c.918G>A, NC_000009.11:g.140051376G>A, 3181456, NP_001172019.1:p.Val306=, XM_005266071.1:c.855G>A, NM_000832.6:c.855G>A +PA166153826 rs11264579 PA162399233 PEAR1 NC_000001.11:156903671 1 0 0 0 0 XM_011509509.1:c.-9-247T>C, XM_011509511.1:c.-70-186T>C, XM_005245142.1:c.-1314T>C, rs11264579, rs59126398, 11264579, XM_006711302.2:c.-70-186T>C, XM_011509512.1:c.-494-247T>C, XM_005245141.2:c.-70-186T>C, NC_000001.11:g.156903671T>C, XM_005245141.1:c.-70-186T>C, NC_000001.10:g.156873463T>C, XM_011509508.1:c.-66-190T>C, NC_000001.10:g.156873463=, 59126398, XM_011509510.1:c.-9-247T>C, NC_000001.11:g.156903671=, NM_001080471.1:c.-9-247T>C +PA166163569 rs11264580 PA162399233 PEAR1 NC_000001.11:156908739 1 0 0 0 0 NP_001340612.1:p.His336=, 61443800, NP_001340612.1:p.His336Gln, 11264580, NC_000001.11:g.156908739=, NC_000001.11:g.156908739T>G, NC_000001.10:g.156878531T>G, NC_000001.11:g.156908739T>C, NC_000001.10:g.156878531=, rs11264580, NC_000001.10:g.156878531T>C +PA166155363 rs1126510 PA291 PTGIR NC_000019.10:46620526 1 1 0 0 0 rs3170155, XR_243945.2:n.902+2932T>C, 3170155, 59535482, NC_000019.9:g.47123783=, NC_000019.10:g.46620526=, NM_000960.3:c.*754T>C, NC_000019.10:g.46620526A>G, XM_005259094.1:c.768+2932T>C, rs1126510, XR_430206.2:n.902+2932T>C, XR_243945.1:n.902+2932T>C, XM_005259093.2:c.*1595T>C, rs59535482, XR_935844.1:n.902+2932T>C, 1126510, NC_000019.9:g.47123783A>G +PA166165096 rs1126535 PA36626 CD40LG NC_000023.11:136648396 1 0 0 0 0 3181629, 3092944, NG_007280.1:g.5220T>C, NC_000023.11:g.136648396T>C, NC_000023.10:g.135730555T>C, NG_007280.1:g.5220=, 17424229, NC_000023.11:g.136648396=, 12840462, NC_000023.10:g.135730555=, NP_000065.1:p.Leu50=, rs1126535, 1126535, 17284137 +PA166295521 rs11265375 PA31619 NHLH1 NC_000001.11:160367457 2 0 0 0 0 rs11265375, NC_000001.10:g.160337247=, NC_000001.11:g.160367457C>T, NC_000001.11:g.160367457=, 57713084, 11265375, NC_000001.10:g.160337247C>T +PA166263902 rs1126545 PA127 CYP2C18 NC_000010.11:94733301 1 0 0 0 0 2281891, NC_000010.11:g.94733301C>T, NC_000010.11:g.94733301=, 52807492, NC_000010.10:g.96493058=, 57536820, NP_000763.1:p.Thr385=, NG_008373.1:g.54808C>T, NP_000763.1:p.Thr385Met, rs1126545, NC_000010.10:g.96493058C>T, 1126545, NG_008373.1:g.54808= +PA166233022 rs11265549 PA134991624 NECTIN4 NC_000001.11:161081736 3 3 0 0 0 56818899, 12742842, NC_000001.11:g.161081736A>G, NG_028109.1:g.12860=, NG_028109.1:g.12860T>C, 11265549, NC_000001.11:g.161081736=, rs11265549, NC_000001.10:g.161051526A>G, NC_000001.10:g.161051526= +PA166153827 rs11265572 NC_000001.11:161243273 2 1 0 0 0 11265572, rs11265572, NC_000001.10:g.161213063=, NC_000001.11:g.161243273G>T, NC_000001.10:g.161213063G>T, NC_000001.11:g.161243273= +PA166161950 rs11265618 PA29835 IL6R NC_000001.11:154457616 3 1 0 0 0 NC_000001.11:g.154457616C>T, NC_000001.11:g.154457616=, 11265618, NC_000001.10:g.154430092C>T, 58370860, rs11265618, NG_012087.1:g.57424C>T, NC_000001.10:g.154430092=, NG_012087.1:g.57424= +PA166156755 rs1126643 PA204 ITGA2 NC_000005.10:53051539 6 1 0 0 0 NC_000005.9:g.52347369C>G, rs16880736, NC_000005.10:g.53051539=, NP_002194.2:p.Phe253Leu, NG_008330.1:g.67214=, NC_000005.10:g.53051539C>G, 1800198, NG_008330.2:g.67214C>G, rs1800198, NG_008330.1:g.67214C>T, rs1126643, 1126643, NC_000005.9:g.52347369C>T, NR_073104.1:n.902C>T, NG_008330.2:g.67214C>T, NG_008330.2:g.67214=, NC_000005.10:g.53051539C>T, NC_000005.9:g.52347369=, 11549773, 16880736, NG_008330.1:g.67214C>G, NR_073103.1:n.902C>T, NM_002203.3:c.759C>T, NR_073105.1:n.902C>T, NR_073107.1:n.781C>T, NP_002194.2:p.Phe253=, NR_073106.1:n.902C>T, rs11549773 +PA166156502 rs1126647 PA29841 CXCL8 NC_000004.12:73743328 3 1 0 0 0 NC_000004.11:g.74609045A>C, NG_029889.1:g.7823A>T, rs17296307, NC_000004.12:g.73743328=, NG_029889.1:g.7823=, NC_000004.12:g.73743328A>C, 11545233, 17296307, rs3181782, rs2298879, NG_029889.1:g.7823A>C, NC_000004.11:g.74609045A>T, NC_000004.12:g.73743328A>T, rs2227547, 2227547, 2298879, NC_000004.11:g.74609045=, rs1126647, NM_000584.3:c.*864A>T, 1126647, 3181782, rs11545233 +PA166153623 rs1126742 PA27118 CYP4A11 NC_000001.11:46932824 3 1 0 0 0 NR_134993.1:n.941T>C, NP_001306084.1:p.Phe402Ser, XM_005270537.1:c.989T>C, rs17411649, NP_000769.2:p.Phe434=, 45564940, NR_134994.1:n.1213T>C, XM_011540827.1:c.1025T>C, NR_134992.1:n.807T>C, 17411649, rs1126742, 1126742, NC_000001.11:g.46932824=, NM_000778.3:c.1301T>C, XP_005270594.1:p.Phe330Ser, NM_001319155.1:c.1205T>C, NR_134988.1:n.1006T>C, NR_134989.1:n.1197T>C, XP_011539130.1:p.Phe336Ser, rs4233507, XP_005270595.1:p.Phe304Ser, XP_011539128.1:p.Phe440Ser, 4233507, XR_246241.1:n.1205T>C, 3181965, NG_007932.1:g.13661T>C, rs3181965, NC_000001.10:g.47398496A>G, rs56782585, XP_005270596.1:p.Phe336Ser, XM_005270538.1:c.911T>C, 56782585, XM_005270539.1:c.1007T>C, NC_000001.10:g.47398496=, XM_011540828.1:c.1007T>C, XR_246242.1:n.1189T>C, NR_134990.1:n.1191T>C, NC_000001.11:g.46932824A>G, XM_011540826.1:c.1319T>C, NG_007932.1:g.13661=, NR_134991.1:n.1178T>C, XP_011539129.1:p.Phe342Ser, NP_000769.2:p.Phe434Ser +PA166155364 rs1126757 PA29781 IL11 NC_000019.10:55368504 2 1 0 0 0 NC_000019.9:g.55879872C>T, 58405151, 3181986, NP_001254647.1:p.Ala3=, NC_000019.10:g.55368504C>T, NP_000632.1:p.Ala82=, NC_000019.9:g.55879872C>G, NM_000641.3:c.246G>A, rs3181986, NM_001267718.1:c.9G>A, rs2236790, 2236790, NC_000019.10:g.55368504=, rs1126757, 1126757, NC_000019.10:g.55368504C>G, rs58405151, NC_000019.9:g.55879872= +PA166156644 rs11269124 PA37 ADRA2C NC_000004.12:3768089 1 1 0 0 0 rs147319738, NG_012640.1:g.6494_6495insGGGAGCTTTCCCAGAGACCC, NC_000004.12:g.3768063_3768088=, NG_012640.1:g.6500_6520dup, NC_000004.11:g.3769790_3769815=, NC_000004.12:g.3768068_3768088dup, NC_000004.12:g.3768062_3768063insGGGAGCTTTCCCAGAGACCC, 11269124, NM_000683.3:c.*67_*68insGGGGAGCTTTCCCAGAGACCC, NC_000004.11:g.3769789_3769790insGGGGAGCTTTCCCAGAGACCC, 147319738, NC_000004.11:g.3769789_3769790insGGGAGCTTTCCCAGAGACCC, NC_000004.11:g.3769795_3769815dup, NC_000004.12:g.3768062_3768063insGGGGAGCTTTCCCAGAGACCC, rs11269124, NG_012640.1:g.6494_6495insGGGGAGCTTTCCCAGAGACCC, NG_012640.1:g.6495_6520=, NM_000683.3:c.*67_*68insGGGAGCTTTCCCAGAGACCC +PA166156202 rs112723255 PA35013,PA162407502 SCO2,TYMP NC_000022.11:50525826 1 0 0 0 0 NC_000022.10:g.50964255C>T, NG_021419.1:g.22611C>T, NP_001944.1:p.Ala465=, NP_001107227.1:p.Ala465Thr, NP_001107228.1:p.Ala465Thr, NG_011860.1:g.9260=, NP_001244918.1:p.Ala470Thr, NG_011860.1:g.9260G>A, NM_001953.4:c.1393G>A, NC_000022.10:g.50964255=, NM_001257989.1:c.1408G>A, NM_005138.2:c.-368G>A, NC_000022.11:g.50525826C>T, NM_001169111.1:c.-398G>A, NG_016235.1:g.5614G>A, NM_001169110.1:c.-14+175G>A, NC_000022.11:g.50525826=, NM_001257988.1:c.1393G>A, NP_001944.1:p.Ala465Thr, NM_001113756.2:c.1393G>A, NP_001244917.1:p.Ala465Thr, 112723255, NM_001113755.2:c.1393G>A, NG_016235.1:g.5614=, NG_021419.1:g.22611=, rs112723255, NM_001169109.1:c.-14+420G>A +PA166155915 rs1127354 PA164718734,PA29973 DDRGK1,ITPA NC_000020.11:3213196 68 7 0 0 0 XM_006723564.2:c.94C>A, NR_052002.1:n.286C>A, NG_012093.1:g.8787C>A, NP_258412.1:p.Pro32Thr, 1127354, rs1127354, rs111069069, XP_011527536.1:p.Pro32Thr, NG_012093.2:g.9330C>A, rs16988347, NG_012093.2:g.9330C>G, XP_006723627.1:p.Pro32Thr, XM_006723565.2:c.67-789C>A, 52834049, 41320251, rs117814751, rs11565932, 16988347, NP_258412.1:p.Pro32=, rs41320251, rs52834049, NC_000020.11:g.3213196=, XM_011529235.1:c.94C>A, NM_001267623.1:c.67-789C>A, 11565932, rs3177087, 117814751, 3177087, NM_033453.3:c.94C>A, NP_258412.1:p.Pro32Ala, NC_000020.11:g.3213196C>A, 111069069, NC_000020.10:g.3193842C>A, NP_852470.1:p.Pro15Thr, NM_181493.2:c.43C>A, rs3183216, 3183216, NR_052000.1:n.194C>A, NR_052001.1:n.49-62C>A, NG_012093.2:g.9330=, XM_011529234.1:c.94C>A, XP_011527537.1:p.Pro32Thr, NC_000020.10:g.3193842=, NC_000020.10:g.3193842C>G, NC_000020.11:g.3213196C>G +PA166154859 rs1127648 PA26963 CSPG4 NC_000015.10:75674754 1 0 0 0 0 NC_000015.10:g.75674754A>G, NM_001897.4:c.*796T>C, 59364090, NC_000015.10:g.75674754=, rs3183827, 3183827, NC_000015.9:g.75967095=, NC_000015.10:g.75674754A>T, NC_000015.9:g.75967095A>T, 17591523, rs59364090, 1127648, rs1127648, rs17591523, NC_000015.9:g.75967095A>G +PA166153917 rs112766203 PA145 DPYD NC_000001.11:97305279 1 0 0 1 0 NC_000001.11:g.97305279G>C, XM_006710397.2:c.2279C>G, XP_005270618.1:p.Thr723Ile, XP_005270618.1:p.Thr723Ser, NP_000101.2:p.Thr760Ser, NR_046590.1:n.129-910G>A, XP_005270619.1:p.Thr688Ser, XP_005270619.2:p.Thr688Ile, NC_000001.11:g.97305279G>A, NM_000110.3:c.2279C>G, NP_000101.2:p.Thr760Ile, NR_046590.1:n.129-910G>C, XP_005270619.1:p.Thr688Ile, XP_005270619.2:p.Thr688Ser, XM_005270561.1:c.2168C>T, XM_006710397.2:c.2279C>T, XP_005270620.1:p.Thr760Ser, XP_005270620.1:p.Thr760Ile, XM_005270563.1:c.2279C>T, NC_000001.10:g.97770835G>C, NC_000001.10:g.97770835G>A, XM_005270562.1:c.2063C>T, NP_000101.2:p.Thr760=, XM_005270562.1:c.2063C>G, NC_000001.11:g.97305279=, XP_006710460.1:p.Thr760Ile, NM_000110.3:c.2279C>T, rs112766203, XM_005270562.3:c.2063C>G, XP_006710460.1:p.Thr760Ser, 112766203, XM_005270562.3:c.2063C>T, XM_005270563.1:c.2279C>G, NG_008807.2:g.620781C>G, XM_005270561.1:c.2168C>G, NC_000001.10:g.97770835=, NG_008807.2:g.620781=, NG_008807.2:g.620781C>T +PA166153965 rs1127687 PA26091 CASP7 NC_000010.11:113730350 2 2 0 0 0 NC_000010.10:g.115490109G>A, XM_011540260.1:c.*810G>A, NM_033338.5:c.*810G>A, NM_033339.4:c.*810G>A, rs56449372, rs1127687, NM_001267058.1:c.*810G>A, NM_001227.4:c.*810G>A, NM_001267057.1:c.*810G>A, NC_000010.11:g.113730350G>A, rs3183905, 3183905, NC_000010.11:g.113730350=, NM_001267056.1:c.*810G>A, XM_006718018.1:c.*810G>A, NM_033340.3:c.*926G>A, XM_006718017.2:c.*810G>A, 56449372, 1127687, NC_000010.10:g.115490109=, XM_011540259.1:c.*810G>A +PA166178427 rs112783657 PA25845 DOP1B NC_000021.9:36183988 2 1 0 0 0 rs112783657, NC_000021.9:g.36183988=, NC_000021.8:g.37556286=, NC_000021.8:g.37556286C>T, 112783657, NC_000021.9:g.36183988C>T +PA166180936 rs11280056 PA134897613,PA359 ENOSF1,TYMS NC_000018.10:673444 34 6 0 0 0 57141594, rs11280056, NC_000018.10:g.673444_673452=, NC_000018.10:g.673447_673452dup, NC_000018.9:g.673447_673452del, NC_000018.9:g.673444_673452=, NG_028255.1:g.20844_20849dup, NC_000018.10:g.673447_673452del, NC_000018.9:g.673447_673452dup, NG_028255.1:g.20841_20849=, NG_028255.1:g.20844_20849del, 11280056 +PA166156474 rs112830684 PA27397 DNAH12 NC_000003.12:57313697 1 0 0 0 0 NC_000003.11:g.57347725C>T, XM_011533467.1:c.10629+797G>A, NM_001291661.1:c.10674+797G>A, XM_011533473.1:c.4887+797G>A, XM_011533468.1:c.10599+797G>A, XM_011533469.1:c.10521+797G>A, XM_011533470.1:c.9162+797G>A, 112830684, NC_000003.12:g.57313697=, NC_000003.11:g.57347725=, XM_011533466.1:c.10662+797G>A, rs112830684, NC_000003.12:g.57313697C>T, NM_178504.4:c.8058+797G>A +PA166157553 rs1128397 PA28654 GFRA2 NC_000008.11:21693288 1 0 0 0 0 NM_001165038.1:c.1070T>A, XM_011544485.1:c.1070T>A, XP_005273532.1:p.Leu343Gln, XP_006716390.1:p.Leu462Gln, 3087672, XM_005273475.2:c.1028T>A, rs3087672, NP_001158510.1:p.Leu357Gln, NG_029215.1:g.100547T>A, XP_011542787.1:p.Leu357Gln, XM_005273473.1:c.1385T>A, NG_029215.1:g.100547=, 52833017, NC_000008.10:g.21550800=, 3185307, rs3185307, XM_006716327.2:c.1385T>A, NP_001486.4:p.Leu462Gln, XP_005273529.1:p.Leu476Gln, NM_001165039.1:c.986T>A, XM_005273474.1:c.1112T>A, XM_011544484.1:c.1385T>A, rs1128397, NC_000008.11:g.21693288A>T, XM_005273475.1:c.1028T>A, rs52833017, 1128397, NG_029215.2:g.100547=, NC_000008.10:g.21550800A>T, NP_001158511.1:p.Leu329Gln, NC_000008.11:g.21693288=, 2229905, NP_001486.4:p.Leu462=, rs2229905, NM_001495.4:c.1385T>A, XP_005273531.1:p.Leu371Gln, NG_029215.2:g.100547T>A, XP_005273530.1:p.Leu462Gln, XM_005273472.1:c.1427T>A, XP_011542786.1:p.Leu462Gln +PA166157288 rs1128503 PA267 ABCB1 NC_000007.14:87550285 260 43 0 0 0 NP_000918.2:p.Gly412=, NC_000007.14:g.87550285A>G, rs17276907, NC_000007.14:g.87550285=, NG_011513.1:g.167964=, NC_000007.13:g.87179601A>G, rs1128503, 1128503, 116989428, rs28365046, 2229105, rs2229105, NG_011513.1:g.167964T>C, rs58257317, rs386518005, rs2032587, 2032587, NC_000007.13:g.87179601=, C1236T, 17276907, 28365046, rs116989428, 58257317, NM_000927.4:c.1236T>C, 386518005 +PA166158905 rs112936952 PA28660 GGCX NC_000002.12:85554457 1 0 0 0 0 NC_000002.12:g.85554455_85554456=, rs112936952, NC_000002.11:g.85781579_85781580insTTTGTTGTTGTTGTT, NG_011811.2:g.12079_12080=, NG_011811.2:g.12080_12081insCAACAACAACAAAAA, NG_011811.2:g.12080_12081insCAACAACAAAAA, 145162516, NC_000002.11:g.85781579_85781580insTTTGTTGTTGTT, 150496372, 112936952, NC_000002.11:g.85781578_85781579=, 145024834, NC_000002.12:g.85554456_85554457insTTTGTTGTTGTT, NC_000002.12:g.85554456_85554457insTTTGTTGTTGTTGTT +PA166175942 rs1129844 PA35543 CCL11 NC_000017.11:34285875 1 1 0 0 0 NC_000017.11:g.34285875G>T, NC_000017.11:g.34285875=, NG_012212.1:g.5208G>A, NP_002977.1:p.Ala23Pro, NG_012212.1:g.5208=, NG_012212.1:g.5208G>T, NC_000017.10:g.32612894G>T, NC_000017.11:g.34285875G>A, NC_000017.11:g.34285875G>C, 17412369, NC_000017.10:g.32612894=, NP_002977.1:p.Ala23=, 3744508, NP_002977.1:p.Ala23Ser, NP_002977.1:p.Ala23Thr, 117303873, NC_000017.10:g.32612894G>C, NG_012212.1:g.5208G>C, rs1129844, 1129844, 3188137, NC_000017.10:g.32612894G>A +PA166156503 rs1130169 PA26214 CD38 NC_000004.12:15849062 1 0 0 0 0 NR_132660.1:n.1377C>T, rs1130169, NC_000004.12:g.15849062C>T, 1130169, NC_000004.11:g.15850685=, NC_000004.11:g.15850685C>G, 17476010, 60393567, NM_001775.3:c.*460C>T, NC_000004.12:g.15849062=, NC_000004.11:g.15850685C>T, rs60393567, NC_000004.12:g.15849062C>G, rs17476010, rs3188795, 3188795 +PA166154772 rs1130214 PA24684 AKT1 NC_000014.9:104793397 1 1 0 0 0 NM_005163.2:c.-350G>T, rs57753899, rs1130214, NM_001014432.1:c.-163-187G>T, NC_000014.8:g.105259734=, 56526192, NG_012188.1:g.7348G>T, 1130214, 36214920, NC_000014.9:g.104793397C>A, NC_000014.8:g.105259734C>A, NC_000014.9:g.104793397=, XM_005267401.1:c.-79-675G>T, NM_001014431.1:c.-79-675G>T, 57753899, rs56526192, XM_011536544.1:c.-350G>T, rs36214920, XM_011536543.1:c.-257-93G>T, NG_012188.1:g.7348= +PA166171100 rs1130409 PA201059,PA32834 APEX1,OSGEP NC_000014.9:20456995 1 0 0 0 0 NC_000014.9:g.20456995=, NP_001632.2:p.Asp148Glu, 17857957, NC_000014.8:g.20925154=, NC_000014.9:g.20456995T>C, NC_000014.9:g.20456995T>A, NC_000014.8:g.20925154T>G, rs1130409, 17858508, NC_000014.9:g.20456995T>G, 52808870, NC_000014.8:g.20925154T>A, NG_008718.1:g.6865T>G, 1130409, 3136820, NC_000014.8:g.20925154T>C, NG_008718.1:g.6865=, NP_001632.2:p.Asp148=, 11539219, NG_008718.1:g.6865T>C, 17844937, 17857670, 3189201, NG_008718.1:g.6865T>A +PA166155627 rs1130609 PA299 RRM2 NC_000002.12:10122793 1 1 0 0 0 NC_000002.12:g.10122793T>G, NM_001165931.1:c.175T>G, NC_000002.11:g.10262920T>G, rs17524206, NC_000002.11:g.10262920=, NC_000002.11:g.10262920T>C, NP_001159403.1:p.Ser59Ala, rs1130609, NP_001159403.1:p.Ser59Pro, 1130609, NM_001034.3:c.-6T>G, 3189671, rs3189671, NC_000002.12:g.10122793=, NP_001159403.1:p.Ser59=, 17524206, NC_000002.12:g.10122793T>C +PA166153624 rs1130864 PA120 CRP NC_000001.11:159713301 1 1 0 0 0 rs17860480, XM_011509207.1:c.*22+202C>T, NG_013007.1:g.6289C>T, XM_005244904.1:c.*22+202C>T, NC_000001.11:g.159713301G>A, rs1130864, 1130864, 17860480, NC_000001.10:g.159683091=, NM_000567.2:c.*224C>T, NC_000001.10:g.159683091G>A, NC_000001.11:g.159713301=, NG_013007.1:g.6289= +PA166155903 rs113095083 PA29856 ILKAP NC_000002.12:238197074 1 1 0 0 0 XR_923033.1:n.205-2204A>G, XM_006712784.1:c.-172-2204A>G, NC_000002.11:g.239105715T>C, NC_000002.12:g.238197074=, XM_005246106.1:c.-318-2204A>G, 113095083, NC_000002.12:g.238197074T>C, rs113095083, XM_005246105.1:c.56-2204A>G, NM_030768.2:c.56-2204A>G, NC_000002.11:g.239105715= +PA166257864 rs113100019 PA134875694 FIP1L1 NC_000004.12:53421530 1 1 0 0 0 NC_000004.11:g.54287697T>G, NG_008644.1:g.48878T>G, 113100019, NC_000004.11:g.54287697=, rs113100019, NC_000004.12:g.53421530=, NC_000004.12:g.53421530T>G, NG_008644.1:g.48878= +PA166155010 rs1131341 PA31744 NQO1 NC_000016.10:69714966 2 0 0 0 0 57338209, rs4986998, 4986998, rs52820907, rs117044374, 3191186, NG_011504.1:g.16665C>T, rs3191186, NM_001025433.1:c.415C>T, NM_001286137.1:c.303+3157C>T, rs11555214, NC_000016.9:g.69748869G>A, NC_000016.9:g.69748869G>C, NC_000016.10:g.69714966G>A, NC_000016.10:g.69714966G>C, rs386597012, 52820907, NM_000903.2:c.415C>T, NP_000894.1:p.Arg139Trp, NP_001020604.1:p.Arg139Trp, NG_011504.1:g.16665C>G, NM_001025434.1:c.304-1837C>T, 11555214, NP_000894.1:p.Arg139Gly, rs17413734, rs1131341, NG_011504.1:g.16665=, 1131341, 386597012, NC_000016.10:g.69714966=, NG_011504.2:g.16665C>G, 117044374, NC_000016.9:g.69748869=, NG_011504.2:g.16665C>T, rs57338209, NP_000894.1:p.Arg139=, NG_011504.2:g.16665=, 17413734, XM_005255830.1:c.303+3157C>T +PA166156442 rs11313667 PA134956867 LRRC15 NC_000003.12:194361436 1 3 0 0 0 NC_000003.12:g.194361433_194361436=, NC_000003.11:g.194082165del, rs151082125, 35134266, 151082125, NC_000003.12:g.194361433delC, 79846527, rs11313667, NM_130830.4:c.-3-387del, 375356868, NM_130830.4:c.-3-387delG, rs375356868, 11313667, 376304527, NC_000003.11:g.194082162delC, rs61050302, 869231686, NC_000003.11:g.194082162_194082165=, NM_001135057.2:c.16-387delG, NC_000003.12:g.194361436del, NM_001135057.2:c.16-387del, rs376304527, rs79846527, rs35134266, 61050302 +PA166155990 rs1131596 PA327 SLC19A1 NC_000021.9:45538002 5 0 0 0 0 1131596, XM_011529700.1:c.-43C>T, NG_028278.2:g.30142C>G, NC_000021.8:g.46957916=, rs1131596, rs3177999, 3177999, XM_011529707.1:c.249C>T, NG_028278.1:g.9470C>T, XM_011529703.1:c.-43C>T, XM_005261164.1:c.-401C>T, NC_000021.9:g.45538002G>T, 36178135, XM_011529701.1:c.-43C>T, XP_011527998.1:p.Ser83=, NM_194255.2:c.-43C>T, 3191633, NC_000021.8:g.46957916G>A, XP_011528007.1:p.Ser83=, XM_011529697.1:c.249C>T, NC_000021.8:g.46957916G>C, XM_011529710.1:c.-165-5854C>T, NG_028278.2:g.30142C>A, XM_011529708.1:c.-43C>T, XP_011527999.1:p.Ser83=, NC_000021.9:g.45538002G>A, XM_011529704.1:c.-43C>T, NC_000021.9:g.45538002G>C, 117417996, NM_001205206.1:c.-43C>T, XM_005261164.2:c.-401C>T, rs3191633, XM_011529699.1:c.-1761C>T, NC_000021.8:g.46957916G>T, NG_028278.2:g.30142=, XM_005261163.1:c.-43C>T, XM_011529705.1:c.249C>T, NC_000021.9:g.45538002=, XM_011529709.1:c.-401C>T, rs117417996, NG_028278.2:g.30142C>T, XM_011529698.1:c.24C>T, XM_011529696.1:c.249C>T, XP_011528009.1:p.Ser83=, rs36178135, XM_011529702.1:c.-43C>T, XP_011528000.1:p.Ser8= +PA166157891 rs113165732 PA31896 OCRL NC_000023.11:129576236 1 1 0 0 0 XM_011531345.1:c.1736-81C>T, XM_011531342.1:c.1883-81C>T, 113165732, NG_008638.1:g.40962=, NC_000023.10:g.128710213C>T, NG_008638.1:g.40962C>T, rs113165732, NM_000276.3:c.1880-81C>T, NM_001318784.1:c.1883-81C>T, XM_011531346.1:c.1883-81C>T, NM_001587.3:c.1880-81C>T, NC_000023.11:g.129576236C>G, NC_000023.10:g.128710213=, NC_000023.11:g.129576236=, NG_008638.1:g.40962C>G, XM_005262422.1:c.1409-81C>T, XM_005262421.1:c.1682-81C>T, XM_011531343.1:c.1883-81C>T, XM_011531344.1:c.1736-81C>T, NC_000023.11:g.129576236C>T, NC_000023.10:g.128710213C>G +PA166153625 rs1131873 PA27829 EPHX1 NC_000001.11:225831952 4 1 0 0 0 rs1131873, 1131873, NC_000001.10:g.226019653G>A, NP_001278092.1:p.Lys119=, 11540968, rs17417489, NG_009776.1:g.26857=, rs11540968, NM_001136018.3:c.357G>A, NP_000111.1:p.Lys119=, rs59577327, 59577327, 17417489, XM_005273085.1:c.357G>A, XP_005273142.1:p.Lys119=, 386563972, NC_000001.11:g.225831952=, NM_000120.3:c.357G>A, 3192121, NP_001129490.1:p.Lys119=, rs3192121, 2292566, rs386563972, NM_001291163.1:c.357G>A, NC_000001.11:g.225831952G>A, NC_000001.10:g.226019653=, rs2292566, NG_009776.1:g.26857G>A +PA166155365 rs1131882 PA348 TBXA2R NC_000019.10:3595925 2 2 0 0 0 1131882, rs1131882, 11085026, NC_000019.10:g.3595925G>A, NG_013363.1:g.15909C>T, NM_001060.5:c.795C>T, NC_000019.9:g.3595923=, NP_001051.1:p.Ile265=, XP_011526516.1:p.Ile265=, NM_201636.2:c.795C>T, XM_011528214.1:c.795C>T, rs11085026, rs1805043, NC_000019.9:g.3595923G>A, NP_963998.2:p.Ile265=, 1805043, NG_013363.1:g.15909=, NC_000019.10:g.3595925= +PA166190881 rs11322783 PA166049147 IFNL4 NC_000019.10:39248514_39248515 37 4 0 0 0 ss469415590, 138732586, NG_055295.1:g.5342_5343delinsC, 67272383, 67272382, NC_000019.10:g.39248514_39248515=, NC_000019.9:g.39739155del, NG_042193.1:g.1457_1458=, NC_000019.9:g.39739154_39739155delinsG, NG_055295.1:g.5343del, 11322783, 35713124, NG_055295.1:g.5342_5343=, NC_000019.10:g.39248514_39248515delinsG, NC_000019.10:g.39248515del, 866229063, NG_042193.1:g.1458del, NC_000019.9:g.39739154_39739155=, rs11322783, NG_042193.1:g.1457_1458delinsC, 373121270 +PA166155527 rs113288603 NC_000019.10:40856388 1 1 0 0 0 NC_000019.10:g.40856388C>T, NG_055456.1:g.6063C>T, NC_000019.9:g.41362293=, NC_000019.9:g.41362293C>T, 113288603, NC_000019.10:g.40856388=, rs113288603, NG_055456.1:g.6063= +PA166261401 rs113332494 PA35068 HLA-DQB1 NC_000006.12:32660311 2 0 0 0 0 NC_000006.12:g.32660311C>G, NG_029922.1:g.11753=, NC_000006.12:g.32660311=, NC_000006.12:g.32660311C>T, NC_000006.11:g.32628088=, NC_000006.11:g.32628088C>T, NG_029922.1:g.11753G>A, rs113332494, 113332494, NG_029922.1:g.11753G>C, NC_000006.11:g.32628088C>G +PA166156699 rs113420705 PA26087,PA145008751 CASP3,PRIMPOL NC_000004.12:184649399 1 0 0 0 0 XM_005262818.1:c.-1210T>C, XM_005262815.1:c.-891T>C, XM_011531721.1:c.-647T>C, rs113420705, XM_011531732.1:c.-647T>C, XM_011531722.1:c.-647T>C, NM_004346.3:c.-187A>G, NC_000004.11:g.185570553=, NM_152683.3:c.-647T>C, XM_005262811.1:c.-647T>C, NG_051582.1:g.4787T>C, XM_005262812.1:c.-647T>C, XR_244622.1:n.-337T>C, NG_051582.1:g.4787T>G, XR_938702.1:n.-337T>C, NG_051582.1:g.4787=, NM_001300768.1:c.-647T>C, XM_011531730.1:c.-1210T>C, XM_011531731.1:c.-647T>C, XR_938701.1:n.-337T>C, XM_005262816.1:c.-655T>C, XM_005262817.1:c.-1213T>C, NM_001300767.1:c.-795T>C, XM_005262810.1:c.-644T>C, XM_005263266.1:c.-20A>G, XM_011531725.1:c.-891T>C, XM_011531723.1:c.-795T>C, XM_005262814.1:c.-894T>C, NC_000004.11:g.185570553T>C, XM_011531726.1:c.-655T>C, NC_000004.12:g.184649399T>G, NM_032991.2:c.-20A>G, XM_011532301.1:c.-149A>G, XM_011531724.1:c.-894T>C, XM_011531719.1:c.-647T>C, XM_011531729.1:c.-1213T>C, XM_005262813.1:c.-795T>C, XM_011531727.1:c.-647T>C, XM_011531720.1:c.-644T>C, NC_000004.12:g.184649399=, NC_000004.11:g.185570553T>G, NC_000004.12:g.184649399T>C, XM_011531728.1:c.-647T>C, 113420705 +PA166157522 rs113488022 PA25408 BRAF NC_000007.14:140753336 4 0 0 0 28 NM_004333.4:c.1799T>C, XP_005250102.1:p.Val600Gly, NM_004333.4:c.1799T>A, NM_004333.4:c.1799T>G, XP_005250102.1:p.Val600Glu, XR_927521.1:n.1807T>C, XR_927521.1:n.1807T>A, XR_242190.1:n.1807T>A, XR_927520.1:n.1807T>C, NC_000007.13:g.140453136=, XR_927520.1:n.1807T>A, XR_242190.1:n.1807T>G, NP_004324.2:p.Val600Ala, XR_927520.1:n.1807T>G, XR_242190.1:n.1807T>C, XR_927521.1:n.1807T>G, NC_000007.14:g.140753336=, NC_000007.13:g.140453136A>T, XP_005250102.1:p.Val600Ala, XM_005250045.1:c.1799T>C, XM_005250046.1:c.1799T>G, XM_005250047.1:c.1799T>G, XP_005250103.1:p.Val600Glu, XM_005250045.1:c.1799T>G, XM_005250046.1:c.1799T>C, XM_005250047.1:c.1799T>C, XP_005250103.1:p.Val600Gly, NG_007873.3:g.176429=, XM_005250047.1:c.1799T>A, NC_000007.13:g.140453136A>G, NC_000007.13:g.140453136A>C, NC_000007.14:g.140753336A>T, XP_005250103.1:p.Val600Ala, rs113488022, XM_011516530.1:c.1695-3918T>A, NC_000007.14:g.140753336A>G, NG_007873.3:g.176429T>G, NC_000007.14:g.140753336A>C, XM_011516530.1:c.1695-3918T>C, NG_007873.3:g.176429T>A, XP_005250104.1:p.Val600Glu, XM_011516530.1:c.1695-3918T>G, XR_927523.1:n.1703-3918T>G, XR_927523.1:n.1703-3918T>A, NG_007873.3:g.176429T>C, XR_927523.1:n.1703-3918T>C, XM_011516529.1:c.1799T>G, XP_011514831.1:p.Val600Ala, XM_011516529.1:c.1799T>C, XP_005250104.1:p.Val600Ala, XR_927522.1:n.1703-3918T>C, XM_011516529.1:c.1799T>A, XR_927522.1:n.1703-3918T>A, XM_005250046.1:c.1799T>A, XR_927522.1:n.1703-3918T>G, NP_004324.2:p.Val600=, XM_005250045.1:c.1799T>A, XP_011514831.1:p.Val600Glu, 113488022, XP_011514831.1:p.Val600Gly, NP_004324.2:p.Val600Gly, XP_005250104.1:p.Val600Gly, NP_004324.2:p.Val600Glu +PA166161156 rs1135216 PA35021 TAP1 NC_000006.12:32847198 1 0 0 0 0 NC_000006.12:g.32847198=, NC_000006.11:g.32814975=, NP_000584.2:p.Asp697Gly, rs1135216, 1135216, 117246571, NG_011759.1:g.11774=, 3197767, NG_028165.1:g.2738=, NC_000006.12:g.32847198T>C, NP_000584.2:p.Asp697=, 17422866, 60840859, 1800453, 114061521, 52811425, 17883051, 45523338, NC_000006.11:g.32814975T>C, NG_011759.1:g.11774A>G, NG_028165.1:g.2738A>G +PA166156073 rs1135822 PA128 CYP2D6 NC_000022.11:42129180 34 7 7 0 0 NT_187682.1:g.51521A>T, NG_008376.3:g.5812T>A, XP_011546052.1:p.Val72Asp, XM_011547751.1:c.142T>A, NM_001025161.2:c.353-236T>A, NM_000106.5:c.358T>A, XM_011547750.1:c.215T>A, NG_008376.3:g.5812T>C, XR_430455.2:n.-691A>T, XM_011529970.1:c.353-236T>A, XP_005278411.1:p.Val20Asp, XP_011528269.1:p.Phe120Ile, NC_000022.11:g.42129180A>T, NG_008376.4:g.6631T>C, XP_011545843.1:p.Val20Asp, NW_009646208.1:g.14746A>T, 1135822, NP_000097.3:p.Phe120Leu, NW_004504305.1:g.51507A>T, XP_011528274.1:p.Phe120Ile, XM_011529968.1:c.358T>A, XM_011529971.1:c.215T>A, NP_000097.3:p.Phe120Ile, 28371707, XP_011528268.1:p.Phe120Ile, NG_008376.4:g.6631T>A, NC_000022.10:g.42525182A>T, XM_011529966.1:c.358T>A, XP_011547121.1:p.Val20Asp, rs17362176, NC_000022.10:g.42525182=, XP_011528270.1:p.Phe120Ile, XM_011529967.1:c.358T>A, NP_000097.3:p.Phe120=, 17362176, NC_000022.10:g.42525182A>G, XM_011529969.1:c.215T>A, XR_952745.1:n.1515T>A, XM_005278353.1:c.363-237T>A, NC_000022.11:g.42129180=, XM_011548819.1:c.59T>A, XM_005278354.3:c.59T>A, XM_011547541.1:c.59T>A, XP_011546053.1:p.Phe48Ile, rs1135822, XM_005278354.1:c.59T>A, NC_000022.11:g.42129180A>G, XM_011529972.1:c.358T>A, XM_011547756.1:c.-855A>T, NG_008376.3:g.5812=, XP_011528271.1:p.Val72Asp, rs28371707, NG_008376.4:g.6631=, XP_011528273.1:p.Val72Asp +PA166156074 rs1135823 PA128 CYP2D6 NC_000022.11:42129174 26 7 7 0 0 XP_011546053.1:p.Ala50Ser, XP_011528273.1:p.Gly74Val, NG_008376.4:g.6637=, XP_011547121.1:p.Gly22Val, XP_011528271.1:p.Gly74Val, XP_011546052.1:p.Gly74Val, XM_011547541.1:c.65G>T, XM_011529969.1:c.221G>T, XR_952745.1:n.1521G>T, XP_011528270.1:p.Ala122Ser, NG_008376.3:g.5818G>T, NC_000022.11:g.42129174=, NT_187682.1:g.51515C>A, XM_011529970.1:c.353-230G>T, XP_011528269.1:p.Ala122Ser, XM_011547751.1:c.148G>T, XM_011529967.1:c.364G>T, XM_011547750.1:c.221G>T, XP_005278411.1:p.Gly22Val, rs17362183, NC_000022.10:g.42525176C>A, NP_000097.3:p.Ala122Ser, rs1135823, 1135823, XP_011528268.1:p.Ala122Ser, XM_005278354.1:c.65G>T, 17362183, XM_005278354.3:c.65G>T, XM_011529971.1:c.221G>T, XM_011529968.1:c.364G>T, XM_011529972.1:c.364G>T, NG_008376.4:g.6637G>T, NW_009646208.1:g.14740C>A, NC_000022.10:g.42525176=, NW_004504305.1:g.51501C>A, XM_011529966.1:c.364G>T, XM_011547756.1:c.-861C>A, XP_011545843.1:p.Gly22Val, XP_011528274.1:p.Ala122Ser, XR_430455.2:n.-697C>A, NC_000022.11:g.42129174C>A, XM_011548819.1:c.65G>T, NM_000106.5:c.364G>T, NG_008376.3:g.5818=, NM_001025161.2:c.353-230G>T, XM_005278353.1:c.363-231G>T, NP_000097.3:p.Ala122= +PA166156075 rs1135824 PA128 CYP2D6 NC_000022.11:42129042 179 51 51 0 0 XM_011529971.1:c.353A>G, XM_011547541.1:c.197A>G, XP_011546053.1:p.Asn94Asp, NW_004504305.1:g.51369T>C, XM_011529966.1:c.496A>G, XM_011529972.1:c.496A>G, NC_000022.11:g.42129042T>C, XM_005278353.1:c.363-99A>G, XP_011528269.1:p.Asn166Asp, NC_000022.11:g.42129042T>A, NM_000106.5:c.496A>G, NC_000022.10:g.42525044=, NP_000097.3:p.Asn166Asp, XM_011529968.1:c.496A>G, XP_011528268.1:p.Asn166Asp, NM_001025161.2:c.353-98A>G, XP_011528274.1:p.Asn166Asp, XP_011528270.1:p.Asn166Asp, XP_011528273.1:p.Gln118Arg, XP_011547121.1:p.Gln66Arg, XM_011547751.1:c.280A>G, rs1135824, NP_000097.3:p.Asn166Tyr, XM_011548819.1:c.197A>G, NW_009646208.1:g.14608T>C, NG_008376.4:g.6769=, XM_011547756.1:c.-993T>C, XP_011546052.1:p.Gln118Arg, XM_011529967.1:c.496A>G, NC_000022.10:g.42525044T>C, XM_005278354.3:c.197A>G, XR_430455.2:n.-829T>C, XM_011529970.1:c.353-98A>G, XP_011545843.1:p.Gln66Arg, NG_008376.4:g.6769A>T, NG_008376.3:g.5950A>G, XP_011528271.1:p.Gln118Arg, 1135824, NC_000022.10:g.42525044T>A, XM_011547750.1:c.353A>G, NP_000097.3:p.Asn166=, XM_011529969.1:c.353A>G, XR_952745.1:n.1653A>G, XP_005278411.1:p.Gln66Arg, XM_005278354.1:c.197A>G, NC_000022.11:g.42129042=, NT_187682.1:g.51383T>C, NG_008376.4:g.6769A>G +PA166158923 rs1135828 PA128 CYP2D6 NC_000022.11:42128181 1 1 1 0 0 NG_008376.3:g.6811T>C, NP_000097.3:p.Met279Thr, NC_000022.11:g.42128181=, NG_008376.3:g.6811T>A, 3020735, NG_008376.3:g.6811=, NC_000022.10:g.42524183=, NC_000022.11:g.42128181A>G, 1135828, NC_000022.10:g.42524183A>G, rs1135828, NG_008376.4:g.7630=, 201830078, NC_000022.10:g.42524183A>T, NP_000097.3:p.Met279=, NG_008376.4:g.7630T>A, NP_000097.3:p.Met279Lys, NG_008376.4:g.7630T>C, NC_000022.11:g.42128181A>T +PA166178872 rs1135832 PA128 CYP2D6 NC_000022.11:42126667 455 79 79 0 0 rs1135832, 1135832, NG_008376.4:g.9144G>T, NC_000022.11:g.42126667C>T, NG_008376.3:g.8325G>T, NC_000022.10:g.42522669=, NC_000022.10:g.42522669C>T, NG_008376.4:g.9144=, NC_000022.10:g.42522669C>A, NG_008376.3:g.8325=, NC_000022.11:g.42126667=, NG_008376.4:g.9144G>C, NP_000097.3:p.Ser467=, NC_000022.11:g.42126667C>G, NC_000022.10:g.42522669C>G, NG_008376.4:g.9144G>A, 751117610, NG_008376.3:g.8325G>C, NC_000022.11:g.42126667C>A, NG_008376.3:g.8325G>A +PA166178873 rs1135833 PA128 CYP2D6 NC_000022.11:42126663 455 79 79 0 0 1135833, NG_008376.4:g.9148C>A, rs1135833, NG_008376.4:g.9148=, NC_000022.10:g.42522665G>C, NC_000022.11:g.42126663G>C, NG_008376.3:g.8329=, NP_000097.3:p.Pro469=, NC_000022.11:g.42126663=, 779653085, NC_000022.11:g.42126663G>T, NC_000022.10:g.42522665=, NP_000097.3:p.Pro469Ala, NC_000022.10:g.42522665G>T, NG_008376.3:g.8329C>A, NG_008376.4:g.9148C>G, NP_000097.3:p.Pro469Thr, NG_008376.3:g.8329C>G +PA166178874 rs1135835 PA128 CYP2D6 NC_000022.11:42126660 455 79 79 0 0 rs1135835, NG_008376.4:g.9151A>G, NP_000097.3:p.Thr470Ala, NG_008376.3:g.8332A>G, NG_008376.4:g.9151=, 1135835, NC_000022.11:g.42126660=, NC_000022.10:g.42522662T>C, NG_008376.3:g.8332=, NC_000022.11:g.42126660T>C, NC_000022.10:g.42522662=, 386518107, NP_000097.3:p.Thr470= +PA166178875 rs1135836 PA128 CYP2D6 NC_000022.11:42126658 457 79 79 0 0 NC_000022.11:g.42126658A>G, NC_000022.10:g.42522660A>G, NG_008376.4:g.9153=, NC_000022.11:g.42126658=, 28371734, rs1135836, 1135836, 574421774, NG_008376.4:g.9153T>C, NC_000022.10:g.42522660=, NG_008376.3:g.8334=, NG_008376.3:g.8334T>C, NP_000097.3:p.Thr470= +PA166156076 rs1135840 PA128 CYP2D6 NC_000022.11:42126611 869 103 103 0 0 NC_000022.10:g.42522613G>C, NM_000106.5:c.1457G>C, XR_952745.1:n.2472C>G, NP_001020332.2:p.Ser435Thr, XM_011529971.1:c.1313G=, XM_011547751.1:c.1241C=, XM_011547750.1:c.1313C>G, NG_008376.4:g.9200=, NC_000022.11:g.42126611C=, NW_009646208.1:g.12177G>C, XM_005278354.3:c.1157C=, XM_011529968.1:c.1452+5C>G, XM_011529968.1:c.1452+5G>C, XM_011529969.1:c.1308+5C>G, XM_011529969.1:c.1308+5G>C, NC_000022.10:g.42522613G=, rs57862116, rs1135840, XM_005278354.1:c.1157C=, XP_011528273.1:p.Ser438=, XM_005278353.1:c.1313C=, XM_011529970.1:c.1299+5C>G, XM_011529970.1:c.1299+5G>C, XM_011529967.1:c.1452+5C>G, XM_011529967.1:c.1452+5G>C, NC_000022.11:g.42126611=, XP_005278411.1:p.Thr386=, NC_000022.11:g.42126611C>G, XP_011546052.1:p.Thr438=, XP_011546053.1:p.Thr414=, NM_001025161.2:c.1304G=, NP_000097.3:p.Ser486Thr, XM_011529971.1:c.1313G>C, XM_011547750.1:c.1313C=, XP_011546052.1:p.Thr438Ser, XM_005278354.3:c.1157C>G, NT_187682.1:g.48952G>C, NP_001020332.2:p.Ser435=, NM_001025161.2:c.1304G>C, NP_000097.3:p.Ser486=, XM_011529966.1:c.1452+5C>G, XM_011529966.1:c.1452+5G>C, XP_005278410.1:p.Thr438Ser, NW_004504305.1:g.48938G=, NG_008376.4:g.9200G>C, NT_187682.1:g.48952G=, 1135840, NM_000106.5:c.1457G=, XM_005278353.1:c.1313C>G, XM_005278354.1:c.1157C>G, XP_005278410.1:p.Thr438=, XM_011547751.1:c.1241C>G, XP_011546053.1:p.Thr414Ser, NW_004504305.1:g.48938G>C, 57862116, XR_952745.1:n.2472C=, XP_005278411.1:p.Thr386Ser, XP_011528273.1:p.Ser438Thr, NG_008376.3:g.8381G=, NW_009646208.1:g.12177G=, NG_008376.3:g.8381G>C, NG_008376.3:g.8381= +PA166155182 rs1135989 PA24468 ACTG1 NC_000017.11:81510981 1 1 0 0 0 rs1135989, NG_011433.1:g.6821=, NP_001605.1:p.Ala310=, NC_000017.11:g.81510981G>A, NG_011433.1:g.6821C>T, NW_003871087.1:g.165619G>A, rs17845587, NC_000017.11:g.81510981=, 3199032, NM_001199954.1:c.930C>T, rs3199032, NC_000017.10:g.79478007G>A, rs17858492, 1135989, 17845587, NM_001614.3:c.930C>T, NR_037688.1:n.1069C>T, NP_001186883.1:p.Ala310=, 17858492, NC_000017.10:g.79478007= +PA166155183 rs1136201 PA27844 ERBB2 NC_000017.11:39723335 6 2 0 0 0 NC_000017.10:g.37879588A>T, NC_000017.11:g.39723335A>G, 1136201, NM_001289936.1:c.1918A>G, NP_004439.2:p.Ile655Val, NR_110535.1:n.2287A>G, XP_005257196.1:p.Ile640Val, NC_000017.10:g.37879588A>G, XP_005257197.1:p.Ile625Val, NC_000017.11:g.39723335A>T, rs1801200, 1801200, NC_000017.11:g.39723335=, NP_001276865.1:p.Ile640Val, rs1136201, NC_000017.10:g.37879588=, NM_004448.3:c.1963A>G, NM_001289937.1:c.1963A>G, NP_001005862.1:p.Ile625Val, NP_004439.2:p.Ile655=, NP_001276866.1:p.Ile655Val, rs17606815, NM_001005862.2:c.1873A>G, NG_007503.1:g.40196=, XM_005257139.1:c.1918A>G, XM_005257140.1:c.1873A>G, rs2006406, 2006406, NG_007503.1:g.40196A>G, 17606815, 2230699, 59955961, rs2230699, rs59955961, NP_004439.2:p.Ile655Phe, NG_007503.1:g.40196A>T +PA166155184 rs1136287 PA35508 SERPINF1 NC_000017.11:1769982 1 0 0 0 0 rs17845405, 3199567, NP_002606.3:p.Thr72=, rs16951641, rs17858264, rs3199567, NC_000017.10:g.1673276=, 16951641, 17845405, 1136287, rs1136287, NG_028180.1:g.13018=, NM_002615.5:c.215C>T, NG_028180.1:g.13018C>T, rs58553017, rs17352972, 58553017, NP_002606.3:p.Thr72Met, NC_000017.11:g.1769982C>T, NC_000017.11:g.1769982=, 17352972, NC_000017.10:g.1673276C>T, rs1804144, 1804144, 17858264 +PA166154205 rs113646094 PA116 ABCC2 NC_000010.11:99804255 2 1 0 0 0 XM_006717630.2:c.750C>G, XP_011537593.1:p.Thr482=, NC_000010.11:g.99804255=, XP_006717694.1:p.Thr482=, rs113646094, NG_011798.2:g.26658C>G, XM_005269536.1:c.1446C>G, NG_011798.1:g.26550=, 113646094, XP_006717693.1:p.Thr250=, NC_000010.10:g.101564012=, NC_000010.10:g.101564012C>G, NC_000010.11:g.99804255C>T, NM_000392.4:c.1446C>G, NG_011798.2:g.26658C>T, NP_000383.2:p.Thr482=, XP_005269593.1:p.Thr482=, NC_000010.11:g.99804255C>G, NG_011798.2:g.26658=, NC_000010.10:g.101564012C>T, XM_011539291.1:c.1446C>G, NG_011798.1:g.26550C>G, XR_945604.1:n.1635C>G, XR_945605.1:n.1637C>G, XM_006717631.2:c.1446C>G, NP_000383.1:p.Thr482=, NG_011798.1:g.26550C>T +PA166157523 rs113667357 PA130 CYP3A4 NC_000007.14:99768424 15 1 1 0 0 NC_000007.13:g.99366047=, NP_059488.2:p.Gln200His, NC_000007.14:g.99768424T>A, NP_001189784.1:p.Gln200His, XM_011515841.1:c.600A>T, NC_000007.14:g.99768424=, NC_000007.14:g.99768424T>C, rs113667357, NP_059488.2:p.Gln200=, NM_001202855.2:c.600A>T, XP_011514144.1:p.Gln200His, NC_000007.13:g.99366047T>A, NC_000007.13:g.99366047T>C, NG_008421.1:g.20762A>G, 113667357, NG_008421.1:g.20762A>T, NM_017460.5:c.600A>T, XM_011515842.1:c.600A>T, XP_011514143.1:p.Gln200His, NG_008421.1:g.20762= +PA166155011 rs1136703 PA166123718,PA341 NPIPB8,SULT1A2 NC_000016.10:28595911 1 0 0 0 0 XM_006721077.2:c.20T>C, rs1136703, 1136703, rs3020798, NP_001045.2:p.Ile7Asn, 3020798, NP_001045.2:p.Ile7Thr, rs1690406, NC_000016.9:g.28607232A>T, XM_011546021.1:c.-1769A>G, 1690406, NP_001045.2:p.Ile7=, 3181460, NC_000016.9:g.28607232A>G, NM_001054.3:c.20T>C, XM_011545923.1:c.20T>C, NC_000016.10:g.28595911A>T, XP_011544225.1:p.Ile7Thr, XP_011544226.1:p.Ile7Thr, 17405395, XP_011544224.1:p.Ile7Thr, XM_005255520.1:c.20T>C, XM_005255519.1:c.20T>C, rs3181460, NC_000016.9:g.28607232A>C, NM_001310136.1:c.121-129009T>C, NP_001045.1:p.Ile7Thr, NP_001045.2:p.Ile7Ser, XM_006721076.2:c.20T>C, XP_005255576.1:p.Ile7Thr, XP_005255577.1:p.Ile7Thr, rs17405395, XP_006721139.1:p.Ile7Thr, NC_000016.10:g.28595911=, NC_000016.10:g.28595911A>C, NC_000016.10:g.28595911A>G, NP_803564.1:p.Ile7Thr, XR_950836.1:n.731T>C, XM_011545922.1:c.20T>C, NG_032570.1:g.6160T>G, NM_177528.2:c.20T>C, NG_032570.1:g.6160T>A, NG_032570.1:g.6160T>C, XM_011545924.1:c.20T>C, NC_000016.9:g.28607232=, NG_032570.1:g.6160=, XP_006721140.1:p.Ile7Thr +PA166154664 rs113681054 PA134865839 SLCO1B1 NC_000012.12:21250045 4 1 0 0 0 113681054, rs113681054, NC_000012.12:g.21250045T>C, NC_000012.11:g.21402979=, NC_000012.12:g.21250045=, NC_000012.11:g.21402979T>C +PA166170103 rs1137070 PA236 MAOA NC_000023.11:43744144 3 0 0 0 0 NC_000023.10:g.43603391=, 58505679, NC_000023.10:g.43603391T>C, NG_008957.2:g.92984=, 28969611, 11544797, 1137070, rs1137070, NP_000231.1:p.Asp470=, NC_000023.11:g.43744144T>C, 1801291, NC_000023.11:g.43744144=, NG_008957.2:g.92984T>C, 3200740 +PA166153626 rs1137101 PA229,PA134913422 LEPR,LEPROT NC_000001.11:65592830 11 4 0 0 0 NM_001003679.3:c.668A>G, NP_001003680.1:p.Gln223Arg, rs12131454, 9282885, NM_001198687.1:c.668A>G, rs1805093, rs9282885, 1805093, rs17356624, rs52820808, NP_002294.2:p.Gln223Leu, NC_000001.11:g.65592830A>T, XM_005270952.1:c.668A>G, XP_005271009.1:p.Gln223Arg, XP_005271008.1:p.Gln223Arg, NM_002303.5:c.668A>G, 12131454, 17356624, 2229418, NC_000001.11:g.65592830A>G, NG_015831.2:g.177266A>T, XM_005270950.1:c.668A>G, rs2229418, rs59347832, XM_005270951.1:c.668A>G, 59347832, NP_001003679.1:p.Gln223Arg, 52820808, NM_001198689.1:c.668A>G, 3200842, rs3200842, NP_001185616.1:p.Gln223Arg, NP_002294.2:p.Gln223Arg, NM_001003680.3:c.668A>G, NG_015831.2:g.177266A>G, NP_001185618.1:p.Gln223Arg, NC_000001.10:g.66058513A>T, NP_002294.2:p.Gln223=, NG_015831.2:g.177266=, NM_001198688.1:c.668A>G, NC_000001.10:g.66058513A>G, XP_005271007.1:p.Gln223Arg, NC_000001.11:g.65592830=, NC_000001.10:g.66058513=, 1137101, rs1137101, NP_001185617.1:p.Gln223Arg +PA166155366 rs1137115 PA121 CYP2A6 NC_000019.10:40850376 1 0 0 0 0 58267364, NC_000019.9:g.41356281=, NG_055456.1:g.51T>C, 1137115, rs1137115, NC_000019.9:g.41356281T>A, NG_055456.1:g.51T>A, NG_008377.1:g.5072=, NC_000019.10:g.40850376=, NG_008377.1:g.5072A>G, XP_005258625.1:p.Val17=, NM_000762.5:c.51A>G, rs58267364, NC_000019.10:g.40850376T>C, XM_005258568.1:c.51A>G, 3200915, rs3200915, NG_055456.1:g.51=, NG_008377.1:g.5072A>T, NC_000019.9:g.41356281T>C, NP_000753.3:p.Val17=, NC_000019.10:g.40850376T>A +PA166157289 rs1137617 PA212 KCNH2 NC_000007.14:150951110 3 1 0 0 0 NM_172057.2:c.936T>C, XP_011514488.1:p.Tyr652=, NG_008916.1:g.31817T>G, NC_000007.13:g.150648198A>T, NC_000007.13:g.150648198=, NG_008916.1:g.31817T>C, NG_008916.1:g.31817T>A, NC_000007.14:g.150951110A>T, NM_172057.2:c.936T>A, NM_001204798.1:c.936T>C, NP_742053.1:p.Tyr652=, NC_000007.13:g.150648198A>C, NC_000007.14:g.150951110A>G, NM_001204798.1:c.936T>A, NC_000007.14:g.150951110A>C, 1805122, rs1805122, 11538712, NC_000007.13:g.150648198A>G, XM_011516185.1:c.1656T>C, XM_011516185.1:c.1656T>A, 17221791, 17424631, NC_000007.14:g.150951110=, rs11538712, NP_742054.1:p.Tyr312Ter, XP_011514487.1:p.Tyr552Ter, rs3201408, NM_000238.3:c.1956T>A, 118033979, rs10226664, NM_000238.3:c.1956T>C, rs1137617, rs2228161, 2228161, NP_001191727.1:p.Tyr312Ter, NG_008916.1:g.31817=, 8179010, rs17221791, NP_001191727.1:p.Tyr312=, rs8179010, 1137617, XM_011516186.1:c.1956T>C, rs17424631, 59788464, NP_742053.1:p.Tyr652Ter, NP_000229.1:p.Tyr652=, XP_011514488.1:p.Tyr652Ter, rs59788464, XM_011516186.1:c.1956T>A, XP_011514487.1:p.Tyr552=, NM_172056.2:c.1956T>C, NM_172056.2:c.1956T>A, 10226664, NP_742054.1:p.Tyr312=, rs118033979, 3201408, NP_000229.1:p.Tyr652Ter +PA166154320 rs1138272 PA29028 GSTP1 NC_000011.10:67586108 8 2 0 0 0 NC_000011.10:g.67586108=, NC_000011.10:g.67586108C>T, XM_005273958.1:c.338C>T, rs17434783, NP_000843.1:p.Ala114=, XP_005274015.1:p.Ala113Val, 17434783, rs11553894, NP_000843.1:p.Ala114Val, NG_012075.1:g.7514C>T, 52800258, 11553894, rs61323549, NC_000011.9:g.67353579=, rs3202011, 3202011, rs52800258, NC_000011.9:g.67353579C>T, NM_000852.3:c.341C>T, rs4134657, 61323549, 4134657, rs1804665, 1804665, NG_012075.1:g.7514=, rs1799811, 1799811, rs1138272, 1138272 +PA166156311 rs1138518 PA33953 PTH1R NC_000003.12:46902784 1 0 0 0 0 XP_011532269.1:p.Asn476=, rs17435012, NP_000307.1:p.Asn463=, NC_000003.11:g.46944274T>C, XM_005265344.1:c.1296T>C, NC_000003.12:g.46902784T>C, XP_005265401.1:p.Asn432=, 17435012, XM_005265342.1:c.1389T>C, XP_005265399.1:p.Asn463=, rs3202529, 3202529, NM_001184744.1:c.1389T>C, XM_005265343.1:c.1335T>C, rs1869872, 1869872, NP_001171673.1:p.Asn463=, NG_008864.1:g.30039T>C, 1138518, NG_008864.1:g.30039T>A, XM_005265344.2:c.1296T>C, XP_005265400.1:p.Asn445=, XP_011532270.1:p.Asn470=, 11545034, rs58779339, rs1138518, NC_000003.12:g.46902784=, NM_000316.2:c.1389T>C, NC_000003.12:g.46902784T>A, XM_005265341.1:c.1428T>C, XM_011533967.1:c.1428T>C, NC_000003.11:g.46944274=, XP_005265398.1:p.Asn476=, NC_000003.11:g.46944274T>A, 58779339, NP_000307.1:p.Asn463Lys, XM_011533968.1:c.1410T>C, NG_008864.1:g.30039=, rs11545034 +PA166157685 rs113889867 PA35540 STMN2 NC_000008.11:79644265 1 0 0 0 0 XM_005251143.1:c.255+2715G>A, NC_000008.10:g.80556500G>A, rs113889867, XM_005251141.1:c.288+2715G>A, NC_000008.11:g.79644265=, 113889867, NC_000008.11:g.79644265G>A, XM_005251142.1:c.273+2715G>A, XM_005251144.1:c.255+2715G>A, NM_001199214.1:c.288+2715G>A, NM_007029.3:c.288+2715G>A, NC_000008.10:g.80556500= +PA166285481 rs1139130 PA134955499 METTL3 NC_000014.9:21499772 2 0 0 0 0 NC_000014.9:g.21499772=, 3179704, 57253946, 17182557, 3752410, NC_000014.8:g.21967916A>G, 1263789, 1139130, 17435298, NC_000014.9:g.21499772G>A, 3203200, rs1139130, NP_062826.2:p.Asn445= +PA166154206 rs113934938 PA124 CYP2C19 NC_000010.11:94842995 6 0 0 0 0 NP_000760.1:p.Val374Ile, NP_000760.1:p.Val374=, NM_000769.2:c.1120G>A, NM_000769.1:c.1120G>A, rs113934938, 113934938, NG_008384.3:g.85315G>A, NC_000010.11:g.94842995G>A, NG_008384.2:g.85290G>A, NC_000010.11:g.94842995=, NG_008384.3:g.85315=, NC_000010.10:g.96602752=, NC_000010.10:g.96602752G>A +PA166196167 rs1139916 PA28499 GABRE NC_000023.11:151969707 1 0 0 0 0 1139916, NG_012511.1:g.9973=, NG_012511.1:g.9973T>A, NC_000023.10:g.151138179A>C, NP_004952.2:p.Ser102Pro, NG_012511.1:g.9973T>C, NC_000023.10:g.151138179A>G, rs1139916, NC_000023.11:g.151969707A>T, NG_012511.1:g.9973T>G, 52790880, NP_004952.2:p.Ser102Thr, 3203977, 2071306, NP_004952.2:p.Ser102Ala, NP_004952.2:p.Ser102=, NC_000023.11:g.151969707=, NC_000023.11:g.151969707A>G, 17846569, 386518147, 61218654, NC_000023.11:g.151969707A>C, NC_000023.10:g.151138179A>T, 17859650, NC_000023.10:g.151138179= +PA166164943 rs113993958 PA109 CFTR NC_000007.14:117530953 1 1 0 1 3 NG_016465.4:g.70170G>C, NG_016465.4:g.70170G>A, NP_000483.3:p.Asp110His, NC_000007.14:g.117530953G>A, NG_016465.4:g.70170=, NC_000007.14:g.117530953=, NP_000483.3:p.Asp110=, 113993958, NC_000007.14:g.117530953G>T, NC_000007.13:g.117171007G>T, NP_000483.3:p.Asp110Tyr, NG_016465.4:g.70170G>T, NC_000007.13:g.117171007=, NC_000007.13:g.117171007G>C, NP_000483.3:p.Asp110Asn, NC_000007.13:g.117171007G>A, NC_000007.14:g.117530953G>C, rs113993958 +PA166157524 rs113993959 PA109 CFTR NC_000007.14:117587778 4 1 0 0 0 NG_056131.1:g.102G>A, NM_000492.3:c.1624G>T, NG_016465.4:g.126995=, XM_011515751.1:c.1714G>T, NG_016465.4:g.126995G>T, NC_000007.14:g.117587778G>T, NC_000007.13:g.117227832G>A, NG_016465.3:g.126995G>T, XP_011514053.1:p.Gly572Ter, XP_011514055.1:p.Gly461Ter, NG_056131.3:g.733G>A, NC_000007.14:g.117587778G>A, XP_011514054.1:p.Gly572Ter, NG_016465.4:g.126995G>A, NG_056131.3:g.733=, 113993959, NC_000007.13:g.117227832=, NC_000007.13:g.117227832G>T, XM_011515752.1:c.1714G>T, XM_011515753.1:c.1381G>T, NC_000007.14:g.117587778=, NG_056131.1:g.102G>T, NG_056131.3:g.733G>T, NP_000483.3:p.Gly542=, NP_000483.3:p.Gly542Arg, XM_011515754.1:c.1381G>T, NG_056131.1:g.102=, rs113993959, XP_011514056.1:p.Gly461Ter, NP_000483.3:p.Gly542Ter +PA166157525 rs113993960 PA109 CFTR NC_000007.14:117559592_117559594 42 7 2 0 10 199826652, NC_000007.13:g.117199645_117199648=, NP_000483.3:p.Phe508del, XP_011514053.1:p.Phe538del, 113993960, NC_000007.13:g.117199646_117199648delCTT, NM_000492.3:c.1521_1523delCTT, NC_000007.14:g.117559592_117559594delCTT, XM_011515752.1:c.1611_1613delCTT, XM_011515753.1:c.1278_1280delCTT, NG_016465.4:g.98809_98811del, XM_011515751.1:c.1611_1613delCTT, XP_011514054.1:p.Phe538del, XM_011515754.1:c.1278_1280delCTT, NG_016465.3:g.98809_98811delCTT, XP_011514055.1:p.Phe427del, XP_011514056.1:p.Phe427del, NC_000007.14:g.117559591_117559594=, rs113993960, NP_000483.3:p.Ile507_Phe508=, NC_000007.13:g.117199646_117199648del, NG_016465.4:g.98808_98811=, NC_000007.14:g.117559592_117559594del, NG_016465.4:g.98809_98811delCTT +PA166154207 rs114071557 PA126 CYP2C9 NC_000010.11:94938683 2 2 2 0 0 NG_055435.1:g.4214A>T, NC_000010.10:g.96698440=, NG_008385.1:g.5026A>G, XP_005269632.1:p.Met1Val, NG_008385.2:g.5526=, NG_008385.2:g.5526A>T, NM_000771.3:c.1A>G, NC_000010.10:g.96698440A>T, NC_000010.11:g.94938683=, NG_055435.1:g.4214A>G, NC_000010.11:g.94938683A>T, rs114071557, NG_055435.1:g.4214=, NP_000762.2:p.Met1Val, NG_008385.1:g.5026=, NP_000762.2:p.Met1=, NG_008385.1:g.5026A>T, NC_000010.10:g.96698440A>G, NG_008385.2:g.5526A>G, 114071557, XM_005269575.1:c.1A>G, CYP2C9*36, NP_000762.2:p.Met1Leu, NC_000010.11:g.94938683A>G +PA166199601 rs114077267 PA30699 MCOLN1 NC_000019.10:7522131 1 1 0 0 0 NC_000019.9:g.7587017C>G, rs114077267, NC_000019.9:g.7587017C>A, NG_015806.1:g.4522=, NC_000019.10:g.7522131C>G, NC_000019.10:g.7522131C>T, NG_015806.1:g.4522C>T, NC_000019.10:g.7522131=, NC_000019.9:g.7587017C>T, NG_015806.1:g.4522C>A, 114077267, NC_000019.9:g.7587017=, NC_000019.10:g.7522131C>A, NG_015806.1:g.4522C>G +PA166305581 rs114087210 NC_000001.11:110696600 1 0 0 0 0 NC_000001.10:g.111239222G>A, NC_000001.11:g.110696600G>A, rs114087210, 114087210, NC_000001.10:g.111239222=, NC_000001.11:g.110696600= +PA166153918 rs114096998 PA145 DPYD NC_000001.11:97078987 3 0 0 1 0 XM_005270562.3:c.2851C>G, NG_008807.2:g.847073=, NP_000101.2:p.Pro1023Ser, XM_005270562.3:c.2851C>A, XP_005270619.1:p.Pro951Ser, NC_000001.10:g.97544543=, XP_005270618.1:p.Pro986Ala, XP_005270619.2:p.Pro951Ser, XM_005270561.1:c.2956C>A, NC_000001.10:g.97544543G>T, XM_005270561.1:c.2956C>G, XM_005270562.1:c.2851C>G, XM_005270561.1:c.2956C>T, XM_005270562.1:c.2851C>A, NG_008807.2:g.847073C>G, 199469566, NC_000001.10:g.97544543G>C, NM_000110.3:c.3067C>T, NP_000101.2:p.Pro1023Thr, 114096998, XP_005270618.1:p.Pro986Thr, NC_000001.11:g.97078987G>A, XP_005270619.2:p.Pro951Thr, NC_000001.11:g.97078987G>C, XM_005270562.1:c.2851C>T, XP_005270619.1:p.Pro951Thr, rs199469566, NG_008807.2:g.847073C>A, rs114096998, XP_005270619.2:p.Pro951Ala, NC_000001.11:g.97078987=, NM_000110.3:c.3067C>A, XM_005270562.3:c.2851C>T, XP_005270619.1:p.Pro951Ala, NG_008807.2:g.847073C>T, NP_000101.2:p.Pro1023=, NM_000110.3:c.3067C>G, NC_000001.11:g.97078987G>T, XP_005270618.1:p.Pro986Ser, NP_000101.2:p.Pro1023Ala, NC_000001.10:g.97544543G>A +PA166288761 rs114119971 PA107 CES1 NC_000016.10:55819586 1 0 0 0 0 NC_000016.10:g.55819586G>C, NG_012057.1:g.18578C>G, NC_000016.9:g.55853498G>A, NC_000016.10:g.55819586G>A, NC_000016.9:g.55853498G>C, 114119971, NC_000016.10:g.55819586=, NG_012057.1:g.18578C>T, NC_000016.9:g.55853498=, NP_001257.4:p.His284=, rs114119971, NG_012057.1:g.18578=, NP_001257.4:p.His284Gln +PA166157526 rs114202595 PA32958 PAX4 NC_000007.14:127614533 1 1 0 0 0 NC_000007.13:g.127254587G>T, NG_012848.1:g.6194=, NC_000007.14:g.127614533G>A, NG_012848.1:g.6194C>A, NP_001353039.1:p.Arg129Trp, rs121917717, XM_011516276.1:c.385C>T, rs114202595, NC_000007.14:g.127614533=, NG_012848.1:g.6194C>T, NC_000007.14:g.127614533G>T, XP_005250454.1:p.Arg129Trp, 114202595, NC_000007.13:g.127254587G>A, NM_006193.2:c.361C>T, XR_242243.1:n.816C>T, NC_000007.13:g.127254587=, 121917717, XM_005250397.1:c.385C>T, NP_001353039.1:p.Arg129=, NP_006184.2:p.Arg121Trp, XP_011514578.1:p.Arg129Trp +PA166156978 rs1142345 PA356 TPMT NC_000006.12:18130687 195 16 13 0 0 NC_000006.12:g.18130687T>C, NC_000006.11:g.18130918=, NC_000006.12:g.18130687T>G, rs61510596, NC_000006.12:g.18130687=, 29001646, XP_011513142.1:p.Tyr217Cys, rs16880254, rs1801205, XM_011514839.1:c.674A>G, 1801205, NC_000006.11:g.18130918T>C, NG_012137.2:g.29457A>C, NG_012137.2:g.29457A>G, NM_000367.3:c.719A>G, NP_000358.1:p.Tyr240Cys, XP_011513141.1:p.Tyr225Cys, 16880254, NG_012137.2:g.29457=, NC_000006.11:g.18130918T>G, NP_000358.1:p.Tyr240=, 61510596, rs52798150, 1142345, rs1142345, rs29001646, NP_000358.1:p.Tyr240Ser, XM_011514840.1:c.650A>G, 52798150 +PA166155628 rs1143623 PA29808 IL1B NC_000002.12:112838252 3 2 0 0 0 NG_008851.1:g.3528=, NC_000002.12:g.112838252=, NM_000576.2:c.-1560G>C, NC_000002.11:g.113595829C>A, NC_000002.11:g.113595829=, NG_008851.1:g.3528G>T, 17042471, NC_000002.11:g.113595829C>G, rs59448529, NC_000002.12:g.112838252C>A, rs1143623, NC_000002.12:g.112838252C>G, NG_008851.1:g.3528G>C, rs17042471, 1143623, 59448529 +PA166155629 rs1143627 PA29808 IL1B NC_000002.12:112836810 2 2 0 0 0 NM_000576.2:c.-118C>T, rs386518183, 52833617, NG_008851.1:g.4970=, NC_000002.11:g.113594387=, rs56857420, rs1800873, rs3181066, rs3811041, 386518183, NC_000002.12:g.112836810=, NC_000002.12:g.112836810G>A, NG_008851.1:g.4970C>T, 1800873, NC_000002.11:g.113594387G>A, XM_006712496.1:c.-1072C>T, 56857420, rs52833617, 3181066, 3811041, rs1143627, 1143627 +PA166155630 rs1143634 PA29808 IL1B NC_000002.12:112832813 10 4 0 0 0 NG_008851.1:g.8967C>T, 57848697, NC_000002.12:g.112832813G>A, NC_000002.12:g.112832813=, NC_000002.11:g.113590390G>A, rs386518185, rs3730338, 3730338, XP_006712559.1:p.Phe27=, 11541230, 386518185, rs1143634, rs17598550, NM_000576.2:c.315C>T, rs57848697, NC_000002.11:g.113590390=, 1143634, NP_000567.1:p.Phe105=, 17598550, XM_006712496.1:c.81C>T, NG_008851.1:g.8967=, rs11541230 +PA166155991 rs1143663 PA26121,PA25814 CBR1,SETD4 NC_000021.9:36070377 1 0 0 0 0 XM_005261073.1:c.262G>A, 6413462, NR_040084.1:n.486C>T, XP_005261130.1:p.Val88Ile, NM_001286789.1:c.262G>A, NC_000021.9:g.36070377G>A, NM_001757.3:c.262G>A, NP_001748.1:p.Val88Ile, NC_000021.8:g.37442675G>A, rs1143663, 1143663, rs6413462, NC_000021.9:g.36070377=, NC_000021.8:g.37442675=, NP_001748.1:p.Val88=, NP_001273718.1:p.Val88Ile +PA166176073 rs1143671 PA35812 SLC15A2 NC_000003.12:121928439 1 0 0 0 0 NC_000003.11:g.121647286C>G, 3749457, 52819015, NC_000003.12:g.121928439=, NP_066568.3:p.Pro409Ala, NC_000003.12:g.121928439C>T, 1316300, NC_000003.11:g.121647286=, NC_000003.12:g.121928439C>G, NP_066568.3:p.Pro409Thr, 59056692, NP_066568.3:p.Pro409=, NC_000003.12:g.121928439C>A, 1143671, rs1143671, NP_066568.3:p.Pro409Ser, NC_000003.11:g.121647286C>T, NC_000003.11:g.121647286C>A +PA166176076 rs1143672 PA35812 SLC15A2 NC_000003.12:121929321 1 0 0 0 0 2293609, 1143672, 17366654, NP_066568.3:p.Arg509=, rs1143672, 57961332, NC_000003.12:g.121929321=, NC_000003.11:g.121648168=, NC_000003.11:g.121648168G>A, NP_066568.3:p.Arg509Lys, NC_000003.12:g.121929321G>A, 1920316 +PA166156979 rs1143684 PA31745 NQO2 NC_000006.12:3010156 3 1 0 0 0 NC_000006.12:g.3010156=, NP_000895.2:p.Leu47Ile, XM_005249149.2:c.139C>T, NP_000895.2:p.Leu47Val, XM_005249148.1:c.139C>T, NC_000006.11:g.3010390C>T, XP_011512946.1:p.Leu47Phe, NC_000006.11:g.3010390C>G, NG_034013.1:g.15341C>A, XP_011512948.1:p.Leu47Phe, rs17856164, NG_034013.1:g.15341C>G, 1143684, NG_034013.1:g.15341=, rs2756081, 2756081, rs1143684, XP_005249204.1:p.Leu47Phe, XM_005249151.3:c.139C>T, XM_005249152.1:c.139C>T, NP_001305869.1:p.Leu47Phe, XM_011514643.1:c.139C>T, XM_005249150.2:c.139C>T, NC_000006.12:g.3010156C>T, XM_006715100.1:c.139C>T, NC_000006.11:g.3010390=, XP_006715163.1:p.Leu47Phe, 60515731, NC_000006.11:g.3010390C>A, XP_011512944.1:p.Leu47Phe, XP_011512945.1:p.Leu47Phe, NP_000895.2:p.Leu47Phe, NP_000895.2:p.Leu47=, XM_005249151.1:c.139C>T, XM_011514642.1:c.139C>T, rs60515731, XP_011512947.1:p.Leu47Phe, XM_005249147.1:c.139C>T, XM_005249148.2:c.139C>T, NC_000006.12:g.3010156C>A, NM_001318940.1:c.139C>T, NM_000904.4:c.139C>T, NC_000006.12:g.3010156C>G, NP_001277151.1:p.Leu47Phe, XP_005249209.1:p.Leu47Phe, XP_005249206.1:p.Leu47Phe, XP_005249207.1:p.Leu47Phe, XP_005249205.1:p.Leu47Phe, XP_005249208.1:p.Leu47Phe, XM_005249149.1:c.139C>T, NP_001277150.1:p.Leu47Phe, XM_011514646.1:c.139C>T, NM_001290221.1:c.139C>T, XM_011514644.1:c.139C>T, XM_005249150.1:c.139C>T, NM_001290222.1:c.139C>T, NG_034013.1:g.15341C>T, XM_011514645.1:c.139C>T, 17856164 +PA166304144 rs114396708 PA27121 CYP4F2 NC_000019.10:15895527 1 0 0 0 0 rs114396708, NG_007971.2:g.7548C>T, NC_000019.10:g.15895527=, NP_001073.3:p.Arg108Trp, NC_000019.9:g.16006337G>A, 114396708, NC_000019.10:g.15895527G>A, NC_000019.9:g.16006337=, NG_007971.2:g.7548=, NP_001073.3:p.Arg108= +PA166223624 rs114504854 PA27822 EPHA7 NC_000006.12:93411594 1 0 0 0 0 NC_000006.11:g.94121312=, 114504854, NC_000006.11:g.94121312G>A, NG_033944.1:g.12989C>T, NC_000006.12:g.93411594G>A, rs114504854, NC_000006.12:g.93411594=, NG_033944.1:g.12989= +PA166262021 rs114558780 PA121 CYP2A6 NC_000019.10:40845322 1 1 1 0 0 NC_000019.9:g.41351227G>A, 114558780, rs114558780, NC_000019.10:g.40845322=, NC_000019.9:g.41351227=, NC_000019.10:g.40845322G>A, NP_000753.3:p.Thr378=, NP_000753.3:p.Thr378Ile, NC_000019.9:g.41351227G>T, NG_008377.1:g.10126C>A, NG_008377.1:g.10126C>T, NG_008377.1:g.10126=, NP_000753.3:p.Thr378Asn, NC_000019.10:g.40845322G>T +PA166162379 rs114577328 NC_000006.12:29959505 1 0 0 0 0 114577328, NC_000006.11:g.29927282=, NC_000006.12:g.29959505=, NC_000006.11:g.29927282G>C, NC_000006.12:g.29959505G>C, rs114577328 +PA166175796 rs11465996 PA134924906 LY96 NC_000008.11:73989727 1 1 0 0 0 NC_000008.10:g.74901962=, NC_000008.11:g.73989727C>G, 17317524, 11465996, NC_000008.10:g.74901962C>G, NC_000008.11:g.73989727=, rs11465996 +PA166176314 rs11466004 PA134924906 LY96 NC_000008.11:74029040 1 0 0 0 0 NC_000008.11:g.74029040C>T, NC_000008.11:g.74029040C>G, NP_056179.4:p.Pro157Ala, NC_000008.10:g.74941275C>T, NP_056179.4:p.Pro157=, 11466004, 52807914, rs11466004, NC_000008.11:g.74029040=, NC_000008.10:g.74941275=, NC_000008.10:g.74941275C>G, NP_056179.4:p.Pro157Ser +PA166161263 rs1147198 PA31818 NTRK2 NC_000009.12:84660433 1 0 0 0 0 NC_000009.11:g.87275348=, 1147198, rs1147198, NC_000009.12:g.84660433=, NC_000009.12:g.84660433G>T, 1778949, 57281513, NC_000009.11:g.87275348G>T +PA166156029 rs11479 PA35013,PA162407502 SCO2,TYMP NC_000022.11:50525807 5 1 0 0 0 3829983, NC_000022.11:g.50525807G>A, NP_001244917.1:p.Ser471Leu, NP_001944.1:p.Ser471Leu, NG_016235.1:g.5633C>A, NG_021419.1:g.22592G>A, NC_000022.11:g.50525807G>C, rs17859554, NC_000022.10:g.50964236G>T, NG_021419.1:g.22592G>C, NM_001169110.1:c.-14+194C>T, NG_011860.1:g.9279C>T, rs3829983, NP_001244918.1:p.Ser476Leu, NG_016235.1:g.5633C>T, NG_016235.1:g.5633=, NM_005138.2:c.-349C>T, NM_001169111.1:c.-379C>T, NC_000022.11:g.50525807G>T, NM_001953.4:c.1412C>T, rs11479, NG_021419.1:g.22592G>T, NP_001944.1:p.Ser471=, NM_001257989.1:c.1427C>T, NG_016235.1:g.5633C>G, NP_001107227.1:p.Ser471Leu, NM_001257988.1:c.1412C>T, 17846490, NP_001107228.1:p.Ser471Leu, NG_011860.1:g.9279=, NP_001944.1:p.Ser471Trp, rs17846490, NG_011860.1:g.9279C>A, NM_001169109.1:c.-14+439C>T, NC_000022.10:g.50964236G>C, 17859554, rs3202233, NC_000022.11:g.50525807=, NC_000022.10:g.50964236=, NM_001113755.2:c.1412C>T, NM_001113756.2:c.1412C>T, 3202233, NG_011860.1:g.9279C>G, NG_021419.1:g.22592=, NC_000022.10:g.50964236G>A, 11479, NP_001944.1:p.Ser471Ter +PA166157290 rs1149222 PA268 ABCB4 NC_000007.14:87444459 2 1 0 0 0 XM_011516310.1:c.1119+403C>A, NC_000007.14:g.87444459=, NC_000007.14:g.87444459G>T, NG_007118.2:g.40974C>A, rs1149222, XR_927478.1:n.1215+403C>A, 1149222, NG_007118.2:g.40974=, XM_011516309.1:c.1119+403C>A, NG_007118.2:g.40974C>G, NC_000007.14:g.87444459G>C, 60948017, rs10376488, NC_000007.13:g.87073775=, XM_011516313.1:c.1119+403C>A, rs1639242, NC_000007.13:g.87073775G>C, NM_018850.2:c.1119+403C>A, 1639242, XM_011516314.1:c.1140+403C>A, NM_000443.3:c.1119+403C>A, rs60948017, 10376488, XM_011516312.1:c.1119+403C>A, NG_007118.1:g.40974=, NC_000007.13:g.87073775G>T, 17297653, NG_007118.1:g.40974C>A, XM_011516311.1:c.1119+403C>A, NM_018849.2:c.1119+403C>A, rs17297653, XM_011516308.1:c.1119+403C>A, NG_007118.1:g.40974C>G, XM_011516315.1:c.459+403C>A +PA166154321 rs1150226 PA29555 HTR3A NC_000011.10:113974819 3 1 0 0 0 NR_046363.1:n.-256A>G, NC_000011.9:g.113845541A>G, rs56774067, rs1150226, NG_013058.1:g.4745A>G, rs1672729, 1150226, 1672729, NC_000011.10:g.113974819A>G, rs386518532, NM_000869.5:c.-489A>G, NM_213621.3:c.-489A>G, NG_013058.1:g.4745=, 56774067, rs1456890, NC_000011.10:g.113974819=, NG_013058.1:g.4745A>T, 1456890, NC_000011.9:g.113845541=, 386518532, NC_000011.9:g.113845541A>T, NC_000011.10:g.113974819A>T +PA166169464 rs11503014 PA28490 GABRA2 NC_000004.12:46388848 2 1 0 0 0 NC_000004.12:g.46388848=, 56562882, 11503014, NC_000004.12:g.46388848C>G, NG_012835.2:g.6192=, rs11503014, NG_012835.2:g.6192G>C, NC_000004.11:g.46390865C>G, NC_000004.11:g.46390865= +PA166165309 rs11506105 PA7360 EGFR NC_000007.14:55152484 1 1 0 0 0 NG_007726.3:g.138453=, 11506105, 17289816, NG_007726.3:g.138453A>G, 58044914, rs11506105, 17517065, NC_000007.14:g.55152484=, NC_000007.14:g.55152484A>G, 12333632, NC_000007.13:g.55220177=, NC_000007.13:g.55220177A>G +PA166157225 rs115106679 PA356 TPMT NC_000006.12:18143622 5 2 2 0 0 NG_012137.2:g.16522=, XP_011513141.1:p.Glu114Lys, XM_011514839.1:c.340G>A, NG_012137.2:g.16522G>A, NC_000006.12:g.18143622=, 115106679, NP_000358.1:p.Glu114=, NC_000006.12:g.18143622C>T, NC_000006.11:g.18143853=, XM_011514840.1:c.271G>A, NP_000358.1:p.Glu114Lys, NC_000006.11:g.18143853C>T, rs115106679, NM_000367.3:c.340G>A, XP_011513142.1:p.Glu91Lys +PA166223621 rs115112393 NC_000006.12:93470648 1 0 0 0 0 NC_000006.11:g.94180366=, 115112393, NC_000006.11:g.94180366A>G, rs115112393, NC_000006.12:g.93470648A>G, NC_000006.12:g.93470648= +PA166257881 rs115200108 NC_000006.12:31359845 1 2 0 0 0 NC_000006.12:g.31359845=, NC_000006.11:g.31327622=, rs115200108, 115200108, NC_000006.11:g.31327622C>A, NC_000006.12:g.31359845C>A, NG_023187.1:g.2368=, NG_023187.1:g.2368G>T +PA166156312 rs1152003 PA24797 ANGPTL4 NC_000003.12:12435556 2 0 0 0 0 rs60048336, rs1152003, 1152003, NC_000003.12:g.12435556G>C, NC_000003.11:g.12477055=, NG_011749.1:g.152707G>C, 58390878, NG_011749.1:g.152707=, 60048336, XM_011533842.1:c.1270+18402G>C, NC_000003.11:g.12477055G>C, NC_000003.12:g.12435556=, rs1625302, rs58390878, 1625302 +PA166199581 rs115208233 PA30699 MCOLN1 NC_000019.10:7524175 1 1 0 0 0 NC_000019.9:g.7589061C>G, 115208233, NG_015806.1:g.6566=, NG_015806.1:g.6566C>G, NC_000019.9:g.7589061=, rs115208233, NC_000019.10:g.7524175=, NC_000019.10:g.7524175C>G +PA166153919 rs115232898 PA145 DPYD NC_000001.11:97699474 8 2 0 2 0 XP_006710460.1:p.Tyr186Cys, NC_000001.10:g.98165030T>C, XM_005270562.1:c.557A>G, XP_005270621.1:p.Tyr186Cys, XM_005270562.3:c.557A>G, XM_005270563.1:c.557A>G, NG_008807.2:g.226586=, XP_005270619.2:p.Tyr186Cys, XP_005270618.1:p.Tyr149Cys, XP_005270619.1:p.Tyr186Cys, XM_005270564.1:c.557A>G, 199469520, NC_000001.11:g.97699474=, NP_000101.2:p.Tyr186=, rs199469520, NC_000001.10:g.98165030=, XM_006710397.2:c.557A>G, XP_005270620.1:p.Tyr186Cys, XM_005270561.1:c.446A>G, NC_000001.11:g.97699474T>C, 115232898, NM_000110.3:c.557A>G, rs115232898, NP_000101.2:p.Tyr186Cys, NG_008807.2:g.226586A>G +PA166154773 rs1152580 PA27886 ESR2 NC_000014.9:64228276 1 0 0 0 0 1152580, rs17225899, NC_000014.9:g.64228276=, NG_011535.1:g.115275A>C, NR_073505.1:n.2150-662A>C, NG_011756.1:g.380312T>A, NM_001271876.1:c.1407-231A>C, NC_000014.8:g.64694994T>G, NG_011756.1:g.380312T>G, NC_000014.9:g.64228276T>A, NG_011535.1:g.115275=, NC_000014.8:g.64694994T>A, NG_011756.1:g.380312=, 17225899, NC_000014.9:g.64228276T>G, NM_001291712.1:c.1407-662A>C, NG_011535.1:g.115275A>T, NR_073496.1:n.2011-662A>C, NM_001291723.1:c.1407-662A>C, NM_001040275.1:c.1407-662A>C, NM_001214902.1:c.1407-347A>C, rs1152580, XM_011536545.1:c.1406+6694A>C, NC_000014.8:g.64694994= +PA166170377 rs1152746 PA34372 RGS2 NC_000001.11:192827775 1 0 0 0 0 NC_000001.11:g.192827775C>G, NC_000001.11:g.192827775=, NC_000001.10:g.192796905C>T, NC_000001.10:g.192796905=, rs1152746, 56483391, NC_000001.10:g.192796905C>G, NC_000001.11:g.192827775C>T, 1152746, 61160440 +PA166232230 rs11528090 PA124 CYP2C19 NC_000010.11:94838682 1 0 0 0 0 NC_000010.10:g.96598439T>G, rs11528090, NC_000010.11:g.94838682T>G, 12221343, NC_000010.10:g.96598439=, NG_008384.3:g.81002T>G, 11528090, NG_008384.3:g.81002=, NC_000010.11:g.94838682= +PA166257821 rs115346678 NC_000005.10:81767167 1 1 0 0 0 NC_000005.10:g.81767167G>A, rs115346678, 115346678, NC_000005.9:g.81062986=, NC_000005.10:g.81767167=, NC_000005.9:g.81062986G>A +PA166159552 rs115349832 PA145 DPYD NC_000001.11:97593438 1 0 0 0 0 NC_000001.10:g.98058994=, rs115349832, NC_000001.10:g.98058994A>G, NG_008807.2:g.332622T>G, 199469529, NC_000001.11:g.97593438A>C, NC_000001.11:g.97593438=, NC_000001.10:g.98058994A>C, NG_008807.2:g.332622=, NG_008807.2:g.332622T>C, 115349832, NC_000001.11:g.97593438A>G +PA166180144 rs1153702 NC_000002.12:175056029 2 0 0 0 0 NC_000002.11:g.175920757=, NC_000002.11:g.175920757T>C, rs1153702, NC_000002.12:g.175056029=, 1153702, 61395194, NC_000002.12:g.175056029T>C +PA166306501 rs11540822 PA134942738 CCHCR1 NC_000006.12:31151121 1 0 0 0 0 NC_000006.12:g.31151121=, NP_061925.2:p.Leu179Gln, 11540822, rs11540822, NP_061925.2:p.Leu179=, NC_000006.11:g.31118898A>T, 116143751, NC_000006.12:g.31151121A>T, NG_054878.1:g.12118T>A, NG_054878.1:g.12118T>C, NC_000006.11:g.31118898A>G, NC_000006.11:g.31118898=, NG_054878.1:g.12118=, NP_061925.2:p.Leu179Pro, 117419661, NC_000006.12:g.31151121A>G +PA166253201 rs11541557 PA24934 ARF1 NC_000001.11:228097902 1 0 0 0 0 NC_000001.10:g.228285603G>T, NC_000001.11:g.228097902=, NC_000001.10:g.228285603=, rs11541557, NP_001649.1:p.Leu145=, 11541557, NC_000001.11:g.228097902G>T +PA166160309 rs11543791 NC_000007.14:110448995 1 1 0 0 0 12234693, NC_000007.13:g.110089052=, 11543791, NC_000007.13:g.110089052T>C, rs11543791, 56775193, NC_000007.14:g.110448995=, NC_000007.14:g.110448995T>C +PA166156504 rs1154461 PA24577 ADH7 NC_000004.12:99421745 1 0 0 0 0 1154461, rs74951143, NC_000004.12:g.99421745C>G, rs1662044, 1662044, 2134675, NC_000004.12:g.99421745=, NC_000004.11:g.100342902=, 57274128, rs2134675, NC_000004.11:g.100342902C>T, 74951143, rs57274128, NC_000004.12:g.99421745C>T, NM_000673.4:c.601-952G>C, NM_001166504.1:c.625-952G>C, NC_000004.11:g.100342902C>G, rs1154461 +PA166253503 rs11545076 PA432 GGH NC_000008.11:63038892 1 1 0 0 0 NC_000008.11:g.63038892A>C, NC_000008.10:g.63951451=, NG_028126.1:g.5160=, 11545076, rs11545076, NG_028126.1:g.5160T>G, NC_000008.10:g.63951451A>C, NC_000008.11:g.63038892= +PA166157633 rs11545077 PA432 GGH NC_000008.11:63038678 2 1 0 0 0 XP_011515925.1:p.Ala31Thr, rs58961784, NC_000008.10:g.63951237=, NC_000008.10:g.63951237C>T, NM_003878.2:c.91G>A, XM_011517623.1:c.91G>A, 13270305, NG_028126.1:g.5374G>T, NP_003869.1:p.Ala31Ser, rs13270305, 11545077, NC_000008.11:g.63038678C>T, 58961784, NP_003869.1:p.Ala31Thr, NG_028126.1:g.5374=, NC_000008.10:g.63951237C>A, NG_028126.1:g.5374G>A, rs11545077, NC_000008.11:g.63038678=, NP_003869.1:p.Ala31=, NC_000008.11:g.63038678C>A +PA166157634 rs11545078 PA432 GGH NC_000008.11:63026205 7 2 0 0 0 NP_003869.1:p.Thr151=, 386518903, NM_003878.2:c.452C>T, XM_011517623.1:c.452C>T, 11545078, NG_028126.1:g.17847=, 61629507, NP_003869.1:p.Thr151Ile, NC_000008.11:g.63026205G>A, NG_028126.1:g.17847C>T, XP_011515925.1:p.Thr151Ile, NC_000008.11:g.63026205=, NC_000008.10:g.63938764=, rs386518903, NC_000008.10:g.63938764G>A, rs11545078, rs61629507 +PA166178407 rs115457081 PA143485593 RHBDD1 NC_000002.12:226804325 1 1 0 0 0 NC_000002.11:g.227669041G>A, rs115457081, 115457081, NC_000002.12:g.226804325G>A, NC_000002.12:g.226804325=, NC_000002.11:g.227669041= +PA166159812 rs11549465 PA29283 HIF1A NC_000014.9:61740839 1 1 0 0 0 NP_001521.1:p.Pro582=, NC_000014.8:g.62207557C>T, 17834641, 58227753, NC_000014.8:g.62207557=, 11549465, 52801082, NG_029606.1:g.50439=, NP_001521.1:p.Pro582Ser, NC_000014.9:g.61740839=, NG_029606.1:g.50439C>T, rs11549465, NC_000014.9:g.61740839C>T +PA166154822 rs11549467 PA29283 HIF1A NC_000014.9:61740857 2 0 0 0 0 NC_000014.8:g.62207575=, XP_005267631.1:p.Ala589Thr, NC_000014.8:g.62207575G>A, NP_851397.1:p.Ala588Thr, 11549467, NM_001243084.1:c.1834G>A, XR_943928.1:n.213+10028C>T, NC_000014.9:g.61740857G>A, XR_943927.1:n.213+10028C>T, XM_005267573.1:c.1765G>A, XP_005267630.1:p.Ala589Thr, XM_005267574.1:c.1765G>A, NP_001230013.1:p.Ala612Thr, rs11549467, NM_181054.2:c.1762G>A, rs17834647, 17834647, NC_000014.9:g.61740857=, XR_943926.1:n.213+10028C>T, rs386519031, NG_029606.1:g.50457G>A, NP_001521.1:p.Ala588=, 386519031, NM_001530.3:c.1762G>A, NG_029606.1:g.50457=, XR_943925.1:n.213+10028C>T, NP_001521.1:p.Ala588Thr, XR_943929.1:n.213+10028C>T +PA166155969 rs115501901 PA31472 NCOA3 NC_000020.11:47653964 1 0 0 0 0 NM_006534.3:c.*547C>T, rs115501901, XM_005260567.1:c.*547C>T, NM_001174087.1:c.*547C>T, NM_001174088.1:c.*547C>T, NG_016810.1:g.157108C>T, XM_005260564.1:c.*547C>T, XM_005260566.1:c.*547C>T, NM_181659.2:c.*547C>T, XM_005260565.1:c.*547C>T, 115501901, NC_000020.10:g.46282708=, NG_016810.1:g.157108=, NC_000020.11:g.47653964=, NC_000020.10:g.46282708C>T, NC_000020.11:g.47653964C>T +PA166176956 rs11552708 PA162406662,PA36621 TNFSF12-TNFSF13,TNFSF13 NC_000017.11:7559238 1 1 0 0 0 NG_029949.1:g.5947=, NP_003799.1:p.Gly67Arg, NP_003799.1:p.Gly67=, NC_000017.11:g.7559238G>C, NG_052944.1:g.15181=, NC_000017.11:g.7559238G>A, NC_000017.10:g.7462555G>C, 58340751, NC_000017.10:g.7462555=, 11552708, NG_029949.1:g.5947G>C, NG_029949.1:g.5947G>A, NC_000017.10:g.7462555G>A, NC_000017.11:g.7559238=, NG_052944.1:g.15181G>A, NG_052944.1:g.15181G>C, rs11552708 +PA166176958 rs11553441 PA162402175 RRP7A NC_000022.11:42516091 1 1 0 0 0 11553441, NC_000022.11:g.42516091C>G, NC_000022.11:g.42516091=, NC_000022.11:g.42516091C>T, NP_056518.2:p.Val88Leu, NP_056518.2:p.Val88=, NC_000022.10:g.42912097C>T, 117228282, NC_000022.10:g.42912097=, NP_056518.2:p.Val88Ile, rs11553441, NC_000022.10:g.42912097C>G +PA166185541 rs11553746 PA24446 ACP1 NC_000002.12:272203 1 0 0 0 0 NG_012035.1:g.12335=, NC_000002.12:g.272203C>T, rs11553746, 11553746, NG_012035.1:g.12335C>T, NC_000002.12:g.272203=, NC_000002.11:g.272203C>T, NC_000002.11:g.272203=, NP_009030.1:p.Asp43= +PA166164941 rs115545701 PA109 CFTR NC_000007.14:117509089 1 1 0 1 3 NP_000483.3:p.Arg74=, NC_000007.14:g.117509089C>T, NG_016465.4:g.48306=, NP_000483.3:p.Arg74Trp, 386434940, NC_000007.13:g.117149143C>T, NC_000007.13:g.117149143=, rs115545701, NC_000007.14:g.117509089=, NG_062452.1:g.727C>T, NG_016465.4:g.48306C>T, 115545701, NG_062452.1:g.727= +PA166155992 rs1155463 NC_000021.9:21768203 1 1 0 0 0 60997190, rs60997190, NC_000021.9:g.21768203=, rs1155463, NR_109958.1:n.350-16770C>A, 1155463, XR_244296.1:n.350-16770C>A, NC_000021.8:g.23140523C>A, NC_000021.8:g.23140523=, NC_000021.9:g.21768203C>A +PA166304421 rs11556218 PA29793 IL16 NC_000015.10:81305928 1 0 0 0 0 NG_029933.1:g.114051T>G, NC_000015.10:g.81305928T>G, NP_004504.3:p.Asn446Lys, rs11556218, 386519231, 17875535, NC_000015.10:g.81305928=, NP_004504.3:p.Asn446=, NC_000015.9:g.81598269=, NG_029933.1:g.114051=, 11556218, NC_000015.9:g.81598269T>G +PA166155801 rs11558538 PA190 HNMT NC_000002.12:138002079 1 0 0 0 0 11558538, XP_005263711.1:p.Thr105Ile, NP_008826.1:p.Thr105=, NC_000002.12:g.138002079=, rs61727980, rs52832693, NC_000002.11:g.138759649C>T, 35953316, rs1801105, 1801105, rs17644855, XM_011511064.1:c.-65C>T, NM_006895.2:c.314C>T, NP_008826.1:p.Thr105Ile, NC_000002.11:g.138759649=, 45516894, XP_011509365.1:p.Thr71Ile, 17644855, 61356098, rs45516894, NG_012966.1:g.42842C>T, XM_005263654.1:c.314C>T, rs11558538, NG_012966.1:g.42842=, 61727980, rs61356098, rs35953316, NC_000002.12:g.138002079C>T, 52832693, XM_011511063.1:c.212C>T +PA166176952 rs11559290 PA27899 ETFDH NC_000004.12:158680524 1 1 0 0 0 NP_004444.2:p.Thr31Ile, rs11559290, NG_007078.2:g.13183C>T, NC_000004.11:g.159601676C>T, 59373612, 17850815, NC_000004.12:g.158680524C>T, NC_000004.12:g.158680524=, 11559290, NC_000004.11:g.159601676=, 52805154, NP_004444.2:p.Thr31=, NG_007078.2:g.13183= +PA166264401 rs115629050 PA107 CES1 NC_000016.10:55819633 1 0 0 0 0 NP_001257.4:p.Ala269=, NP_001257.4:p.Ala269Pro, NG_012057.1:g.18531G>C, NC_000016.10:g.55819633C>G, NC_000016.9:g.55853545C>A, rs115629050, NP_001257.4:p.Ala269Ser, NC_000016.10:g.55819633C>A, NC_000016.9:g.55853545C>G, NG_012057.1:g.18531=, 117221909, NC_000016.9:g.55853545=, NC_000016.10:g.55819633=, NG_012057.1:g.18531G>T, 115629050 +PA166155802 rs11563250 PA164720351,PA37173 MROH2A,UGT1A NC_000002.12:233774704 3 2 0 0 0 35837558, XM_011511080.1:c.-1068A>G, rs11563250, NC_000002.12:g.233774704=, NC_000002.11:g.234683350A>G, XM_291007.11:c.-1068A>G, NM_001287395.1:c.-1068A>G, NG_051337.1:g.4043A>G, NG_033238.1:g.19432A>G, NC_000002.11:g.234683350=, NC_000002.12:g.233774704A>G, rs35837558, NG_002601.2:g.189961A>G, NG_033238.1:g.19432=, NG_051337.1:g.4043=, 11563250, NG_002601.2:g.189961= +PA166153920 rs115632870 PA145 DPYD NC_000001.11:97828265 1 1 0 0 0 199469511, NC_000001.10:g.98293821=, NC_000001.11:g.97828265C>T, NM_000110.3:c.151-69G>A, rs199469511, NG_008807.2:g.97795=, XM_005270562.3:c.151-69G>A, XM_006710397.2:c.151-69G>A, rs115632870, XM_005270561.1:c.40-69G>A, XM_005270562.1:c.151-69G>A, 115632870, NM_001160301.1:c.151-69G>A, NG_008807.2:g.97795G>A, XM_005270564.1:c.151-69G>A, NC_000001.10:g.98293821C>T, XM_005270563.1:c.151-69G>A, NC_000001.11:g.97828265= +PA166208984 rs11564713 PA351 TH NC_000011.10:2170479 1 0 0 0 0 NC_000011.10:g.2170479C>T, NG_008128.1:g.6327G>C, NC_000011.10:g.2170479C>G, NC_000011.9:g.2191709=, rs11564713, NC_000011.9:g.2191709C>G, NC_000011.9:g.2191709C>T, 11564713, NG_008128.1:g.6327=, NG_008128.1:g.6327G>A, NC_000011.10:g.2170479= +PA166181165 rs11564750 NC_000005.10:1447647 2 0 0 0 0 NG_015885.1:g.2782=, 11564750, NC_000005.10:g.1447647G>C, NC_000005.10:g.1447647G>T, NC_000005.9:g.1447762=, NC_000005.10:g.1447647=, NG_015885.1:g.2782C>G, 386498860, NC_000005.9:g.1447762G>C, rs11564750, NC_000005.9:g.1447762G>T, NG_015885.1:g.2782C>A +PA166158794 rs11568315 PA7360 EGFR NC_000007.14:55020560_55020593 8 1 0 0 0 NG_007726.3:g.6529_6530AC[18], NC_000007.13:g.55088253_55088254AC[20], NG_007726.3:g.6529_6530AC[26], NG_007726.3:g.6529_6530AC[14], NC_000007.13:g.55088253_55088286=, NC_000007.13:g.55088253_55088254AC[24], NC_000007.13:g.55088253_55088254AC[12], NG_007726.3:g.6529_6530AC[22], NC_000007.14:g.55020560_55020561AC[15], NG_007726.3:g.6529_6530AC[10], NC_000007.14:g.55020560_55020561AC[19], 11568315, NC_000007.14:g.55020560_55020561AC[10], NC_000007.14:g.55020560_55020561AC[22], NC_000007.14:g.55020560_55020561AC[14], NC_000007.13:g.55088253_55088254AC[25], 45608036, NG_007726.3:g.6529_6530AC[19], NG_007726.3:g.6529_6530AC[25], NC_000007.13:g.55088253_55088254AC[21], NG_007726.3:g.6529_6530AC[13], NC_000007.14:g.55020560_55020593=, NC_000007.13:g.55088253_55088254AC[13], NC_000007.14:g.55020560_55020561AC[26], NG_007726.3:g.6529_6530AC[21], NC_000007.14:g.55020560_55020561AC[18], NC_000007.14:g.55020560_55020561AC[21], NC_000007.14:g.55020560_55020561AC[13], NC_000007.14:g.55020560_55020561AC[25], NC_000007.13:g.55088253_55088254AC[26], NC_000007.13:g.55088253_55088254AC[14], NC_000007.13:g.55088253_55088254AC[18], rs11568315, NG_007726.3:g.6529_6530AC[16], NG_007726.3:g.6529_6562=, NC_000007.13:g.55088253_55088254AC[22], NC_000007.13:g.55088253_55088254AC[10], NG_007726.3:g.6529_6530AC[24], NG_007726.3:g.6529_6530AC[12], NG_007726.3:g.6529_6530AC[20], NC_000007.14:g.55020560_55020561AC[20], NC_000007.14:g.55020560_55020561AC[12], NC_000007.14:g.55020560_55020561AC[24], NC_000007.13:g.55088253_55088254AC[15], NC_000007.13:g.55088253_55088254AC[19], NG_007726.3:g.6529_6530AC[15], NC_000007.13:g.55088253_55088254AC[11], NG_007726.3:g.6529_6530AC[23], NC_000007.13:g.55088253_55088254AC[23], NG_007726.3:g.6529_6530AC[11], NC_000007.14:g.55020560_55020561AC[16], NC_000007.14:g.55020560_55020561AC[11], NC_000007.14:g.55020560_55020561AC[23], NC_000007.13:g.55088253_55088254AC[16] +PA166211301 rs11568319 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233757115 3 0 0 0 0 NG_033238.1:g.1843C>G, NG_002601.2:g.172372=, NG_033238.1:g.1843=, NC_000002.12:g.233757115=, NG_002601.2:g.172372C>G, rs11568319, NC_000002.11:g.234665761C>G, 11568319, NC_000002.11:g.234665761=, NC_000002.12:g.233757115C>G +PA166155804 rs11568367 PA374 ABCB11 NC_000002.12:168970082 1 0 0 0 0 XM_011512078.1:c.1874A>G, XM_011512079.1:c.1874A>G, XM_011512077.1:c.1874A>G, NP_003733.2:p.Asn591Ser, XM_005246930.1:c.98A>G, XP_011510381.1:p.Asn625Ser, 45448091, NP_003733.2:p.Asn591=, XP_006712880.1:p.Asn605Ser, XP_011510383.1:p.Asn33Ser, NC_000002.11:g.169826592T>C, NG_007374.2:g.66315=, 11568367, XM_011512081.1:c.98A>G, XM_011512080.1:c.1874A>G, rs45448091, rs11568367, NG_007374.2:g.66315A>G, XM_006712817.2:c.1814A>G, XP_011510380.1:p.Asn625Ser, rs386519430, NG_007374.1:g.66242=, NG_007374.1:g.66242A>G, XP_011510379.1:p.Asn625Ser, NC_000002.12:g.168970082=, NC_000002.11:g.169826592=, XP_011510382.1:p.Asn625Ser, NM_003742.2:c.1772A>G, NC_000002.12:g.168970082T>C, 386519430, XP_005246987.1:p.Asn33Ser +PA166313822 rs11568372 PA374 ABCB11 NC_000002.12:168990819 0 0 0 0 1 NC_000002.12:g.168990819=, NC_000002.12:g.168990819T>C, NC_000002.11:g.169847329=, NG_007374.2:g.45578A>G, NC_000002.11:g.169847329T>C, NG_007374.2:g.45578=, rs11568372, 11568372, 45578337, NP_003733.2:p.Glu297=, NP_003733.2:p.Glu297Gly +PA166154457 rs11568482 PA389 SLC22A8 NC_000011.10:62995792 2 1 0 0 0 XP_005274455.1:p.Ile307Phe, NP_001171662.1:p.Ile214Phe, XM_005274398.1:c.919A>T, NC_000011.9:g.62763264=, NC_000011.10:g.62995792T>A, NM_001184732.1:c.913A>T, NM_001184736.1:c.544A>T, XM_005274399.1:c.646A>T, NP_004245.2:p.Ile305=, NC_000011.9:g.62763264T>A, XP_005274456.1:p.Ile216Phe, rs11568482, 11568482, NC_000011.10:g.62995792=, NP_004245.2:p.Ile305Phe, XM_005274397.1:c.919A>T, 45577232, NM_004254.3:c.913A>T, XP_005274454.1:p.Ile307Phe, NM_001184733.1:c.640A>T, NP_001171665.1:p.Ile182Phe, XM_011545364.1:c.544A>T, NP_001171661.1:p.Ile305Phe, rs45577232, XP_011543666.1:p.Ile182Phe +PA166154639 rs11568563 PA328 SLCO1A2 NC_000012.12:21304500 4 0 0 0 0 NC_000012.12:g.21304500T>G, XP_011519120.1:p.Glu172Asp, XM_005253477.2:c.456A>C, NM_134431.3:c.516A>C, XP_005253535.1:p.Glu170Asp, XM_005253478.1:c.510A>C, NP_066580.1:p.Glu172Asp, NC_000012.12:g.21304500=, XP_005253533.1:p.Glu172Asp, NP_602307.1:p.Glu172=, XM_011520819.1:c.516A>C, XP_005253532.1:p.Glu172Asp, rs57550534, XM_005253474.3:c.516A>C, XM_005253475.1:c.516A>C, XM_005253477.1:c.456A>C, rs52838223, 11568563, rs11568563, 52838223, XM_011520818.1:c.516A>C, XM_011520820.1:c.510A>C, NC_000012.11:g.21457434=, XM_005253476.1:c.516A>C, XP_005253531.1:p.Glu172Asp, XP_011519121.1:p.Glu172Asp, 57550534, XP_011519122.1:p.Glu170Asp, XP_005253534.1:p.Glu152Asp, NM_021094.3:c.516A>C, NP_602307.1:p.Glu172Asp, XM_005253474.1:c.516A>C, NC_000012.11:g.21457434T>G +PA166154458 rs11568626 PA388 SLC22A6 NC_000011.10:62984542 3 1 0 0 0 NC_000011.10:g.62984542C>G, NP_695009.1:p.Arg50His, NP_695008.1:p.Arg50His, NM_153277.2:c.149G>A, NC_000011.9:g.62752014C>A, NP_004781.2:p.Arg50His, NC_000011.10:g.62984542C>A, NM_153276.2:c.149G>A, NP_695010.1:p.Arg50His, rs45564337, NP_004781.2:p.Arg50Leu, rs11568626, 11568626, 45564337, NC_000011.9:g.62752014C>G, NP_004781.2:p.Arg50Pro, 57944001, NC_000011.10:g.62984542C>T, NC_000011.10:g.62984542=, NC_000011.9:g.62752014=, NM_153278.2:c.149G>A, NC_000011.9:g.62752014C>T, rs57944001, NM_004790.4:c.149G>A, NP_004781.2:p.Arg50= +PA166181074 rs11568634 PA388 SLC22A6 NC_000011.10:62979488 3 1 0 0 0 rs11568634, NC_000011.9:g.62746960C>T, 45469996, NP_004781.2:p.Arg454Gln, NC_000011.10:g.62979488=, NC_000011.10:g.62979488C>T, NC_000011.9:g.62746960=, NP_004781.2:p.Arg454=, 11568634 +PA166268341 rs11568644 PA397 ABCC4 NC_000013.11:95053126 1 0 0 0 0 rs11568644, NP_005836.2:p.Thr1142=, NC_000013.10:g.95705380G>C, 52827205, NP_005836.2:p.Thr1142Met, NG_050651.1:g.253321C>G, NG_050651.1:g.253321=, NG_050651.2:g.253321C>G, NC_000013.10:g.95705380=, NG_050651.2:g.253321=, 11568644, NG_050651.2:g.253321C>T, NP_005836.2:p.Thr1142Arg, NC_000013.11:g.95053126G>C, 45599942, NG_050651.1:g.253321C>T, 386519484, NC_000013.11:g.95053126G>A, 58192364, NC_000013.11:g.95053126=, NC_000013.10:g.95705380G>A +PA166154746 rs11568655 PA397 ABCC4 NC_000013.11:95062760 1 0 0 0 0 45616431, rs11568655, XM_005254025.2:c.3181T>C, NG_050651.1:g.243687=, NC_000013.11:g.95062760A>G, NG_050651.1:g.243687T>C, XM_005254026.1:c.3169T>C, XM_005254027.1:c.3085T>C, rs45616431, 60458402, rs386519491, NM_001301829.1:c.3169T>C, XP_011519349.1:p.Leu921=, XP_006719977.1:p.Leu1074=, NP_005836.2:p.Leu1104=, XP_005254083.1:p.Leu1057=, XP_005254082.1:p.Leu1061=, XM_005254025.1:c.3181T>C, rs60458402, NM_005845.4:c.3310T>C, XP_005254084.1:p.Leu1029=, NC_000013.10:g.95715014A>G, 11568655, 386519491, XM_006719914.1:c.3220T>C, NC_000013.11:g.95062760=, NP_001288758.1:p.Leu1057=, NC_000013.10:g.95715014=, XM_011521047.1:c.2761T>C +PA166154747 rs11568658 PA397 ABCC4 NC_000013.11:95210754 7 2 0 0 0 60363328, rs11568658, XM_006719914.1:c.559G>T, XP_005254083.1:p.Gly187Trp, XM_005254025.1:c.430G>T, XM_005254026.1:c.559G>T, XP_005254085.1:p.Gly112Trp, NM_001105515.2:c.559G>T, 11568658, NM_001301830.1:c.334G>T, NG_050651.1:g.95693=, NC_000013.10:g.95863008C>A, NM_001301829.1:c.559G>T, XM_005254028.1:c.334G>T, NP_001288758.1:p.Gly187Trp, NP_001098985.1:p.Gly187Trp, NP_005836.2:p.Gly187Trp, NC_000013.10:g.95863008=, NG_050651.1:g.95693G>T, XP_005254082.1:p.Gly144Trp, 52819996, XM_005254027.1:c.334G>T, rs17300851, XP_005254084.1:p.Gly112Trp, NC_000013.11:g.95210754=, NC_000013.11:g.95210754C>A, rs52819996, rs60363328, XP_011519349.1:p.Gly4Trp, XM_005254025.2:c.430G>T, 17300851, NM_005845.4:c.559G>T, XM_011521047.1:c.10G>T, NP_005836.2:p.Gly187=, NP_001288759.1:p.Gly112Trp, XP_006719977.1:p.Gly187Trp +PA166154748 rs11568668 PA397 ABCC4 NC_000013.11:95186786 1 0 0 0 0 XM_005254027.1:c.1235G>A, NC_000013.10:g.95839040C>T, XM_005254028.1:c.1235G>A, NP_005836.2:p.Gly487=, NM_001105515.2:c.1460G>A, NG_050651.1:g.119661G>A, XP_005254083.1:p.Gly487Glu, XP_006719977.1:p.Gly457Glu, XM_005254025.2:c.1331G>A, NM_005845.4:c.1460G>A, NP_005836.2:p.Gly487Glu, NC_000013.11:g.95186786C>T, NP_001288758.1:p.Gly487Glu, rs45511901, XP_005254082.1:p.Gly444Glu, XM_005254026.1:c.1460G>A, NM_001301829.1:c.1460G>A, NP_001098985.1:p.Gly487Glu, XP_005254084.1:p.Gly412Glu, rs386519498, rs11568668, 45511901, NC_000013.10:g.95839040=, NG_050651.1:g.119661=, XP_011519349.1:p.Gly304Glu, 11568668, NC_000013.11:g.95186786=, XM_006719914.1:c.1370G>A, XM_005254025.1:c.1331G>A, 386519498, NP_001288759.1:p.Gly412Glu, XM_011521047.1:c.911G>A, XP_005254085.1:p.Gly412Glu, NM_001301830.1:c.1235G>A +PA166277183 rs11568681 PA397 ABCC4 NC_000013.11:95301263 1 0 0 0 0 45493095, NC_000013.11:g.95301263G>T, NC_000013.10:g.95953517=, NP_005836.2:p.Leu18Ile, NP_005836.2:p.Leu18Phe, NC_000013.10:g.95953517G>T, NC_000013.11:g.95301263G>A, NG_050651.2:g.5184C>A, 11568681, NC_000013.11:g.95301263=, NG_050651.1:g.5184C>T, rs11568681, NG_050651.2:g.5184=, NC_000013.10:g.95953517G>A, NG_050651.1:g.5184C>A, NP_005836.2:p.Leu18=, NG_050651.1:g.5184=, NG_050651.2:g.5184C>T +PA166277185 rs11568684 PA397 ABCC4 NC_000013.11:95207834 1 0 0 0 0 NG_050651.1:g.98613A>G, NC_000013.11:g.95207834=, NC_000013.11:g.95207834T>C, NP_005836.2:p.Lys293=, NC_000013.10:g.95860088T>C, NG_050651.1:g.98613=, NP_005836.2:p.Lys293Glu, 11568684, NG_050651.2:g.98613A>G, 45469799, NC_000013.10:g.95860088=, rs11568684, NG_050651.2:g.98613= +PA166154749 rs11568695 PA397 ABCC4 NC_000013.11:95044286 2 1 0 0 0 XM_005254026.1:c.3468G>A, NP_001288758.1:p.Ala1156=, XM_011521047.1:c.3060G>A, NP_005836.2:p.Ala1203=, XM_005254027.1:c.3384G>A, NG_050651.1:g.262161=, NM_005845.4:c.3609G>A, XM_005254025.2:c.3480G>A, NC_000013.11:g.95044286C>T, rs57205843, NC_000013.11:g.95044286=, XP_011519349.1:p.Ala1020=, XP_006719977.1:p.Ala1173=, NC_000013.10:g.95696540=, XP_005254084.1:p.Ala1128=, 57205843, NG_050651.1:g.262161G>A, NM_001301829.1:c.3468G>A, XM_006719914.1:c.3519G>A, 11568695, XM_005254025.1:c.3480G>A, XP_005254082.1:p.Ala1160=, rs11568695, NC_000013.10:g.95696540C>T, XP_005254083.1:p.Ala1156= +PA166154138 rs11568732 PA124 CYP2C19 NC_000010.11:94761817 1 1 0 0 0 rs11568732, NC_000010.11:g.94761817T>C, rs17110257, 17884755, NC_000010.11:g.94761817=, NG_008384.3:g.4137T>C, NC_000010.11:g.94761817T>G, NG_008384.3:g.4137T>G, NG_008384.2:g.4112T>G, 11568732, NG_055436.1:g.1177T>C, NM_000769.2:c.-889T>G, NC_000010.10:g.96521574T>G, NG_055436.1:g.1177T>G, rs17884755, NC_000010.10:g.96521574=, NC_000010.10:g.96521574T>C, 17110257, NG_008384.3:g.4137=, NG_055436.1:g.1177= +PA166157174 rs11568817 PA29549 HTR1B NC_000006.12:77463665 5 1 0 0 0 NC_000006.11:g.78173382=, NC_000006.12:g.77463665A>C, XR_942708.1:n.545-10861A>C, XR_942709.1:n.545-10861A>C, NC_000006.11:g.78173382A>C, XR_942707.1:n.545-10861A>C, NM_000863.2:c.-262T>G, 11568817, rs11568817, XR_942706.1:n.545-10861A>C, NC_000006.12:g.77463665= +PA166154640 rs11568820 PA37301 VDR NC_000012.12:47908762 4 1 0 0 0 rs11568820, NC_000012.11:g.48302545=, 17883968, NG_008731.1:g.1270G>A, rs60432410, 56977367, rs17883968, 11568820, NC_000012.12:g.47908762=, 60432410, NC_000012.11:g.48302545C>T, rs56977367, NG_008731.1:g.1270=, NC_000012.12:g.47908762C>T +PA166250522 rs11568824 PA122,PA134962723 CYP3A7,ZSCAN25 NC_000007.14:99735384 5 1 1 0 0 NC_000007.13:g.99333007C>A, NG_007983.1:g.4815G>T, rs11568824, NC_000007.14:g.99735384C>A, NC_000007.13:g.99333007=, NG_007983.1:g.4815=, NG_055449.1:g.392=, 386519513, NC_000007.14:g.99735384=, 11568824, NG_055449.1:g.392C>A +PA166250526 rs11568825 PA122,PA134962723 CYP3A7,ZSCAN25 NC_000007.14:99735363 5 1 1 0 0 NC_000007.14:g.99735363A>T, NG_055449.1:g.371A>C, rs11568825, NC_000007.13:g.99332986A>C, NC_000007.13:g.99332986A>T, NC_000007.14:g.99735363=, NG_055449.1:g.371=, 11568825, NG_007983.1:g.4836T>G, NC_000007.14:g.99735363A>C, NG_055449.1:g.371A>T, NG_007983.1:g.4836=, NC_000007.13:g.99332986=, NG_007983.1:g.4836T>A +PA166250527 rs11568826 PA122,PA134962723 CYP3A7,ZSCAN25 NC_000007.14:99735355 5 1 1 0 0 NG_007983.1:g.4844T>A, NG_007983.1:g.4844=, NC_000007.13:g.99332978A>T, rs11568826, 11568826, NG_055449.1:g.363=, NG_055449.1:g.363A>T, NC_000007.13:g.99332978=, NC_000007.14:g.99735355A>T, NC_000007.14:g.99735355= +PA166156645 rs11568972 PA27664 EGF NC_000004.12:109967851 1 0 0 0 0 XM_005262796.1:c.1576-1120A>C, XM_005262801.2:c.1576-1120A>C, XM_005262802.1:c.1576-1120A>C, NG_011441.2:g.59968A>C, NG_011441.1:g.59968=, XR_938699.1:n.2029-1120A>C, XM_005262796.2:c.1576-1120A>C, XM_005262800.2:c.1576-1120A>C, XM_005262801.1:c.1576-1120A>C, XM_011531709.1:c.1576-1120A>C, XM_005262797.2:c.1450-1120A>C, NC_000004.11:g.110889007A>C, NM_001178131.2:c.1450-1120A>C, NM_001178130.2:c.1576-1120A>C, XR_427532.2:n.2029-1120A>C, NG_011441.2:g.59968=, XM_005262797.1:c.1450-1120A>C, XM_011531708.1:c.1576-1120A>C, XM_005262798.2:c.1576-1120A>C, XM_005262799.1:c.1576-1120A>C, NG_011441.1:g.59968A>C, XM_011531707.1:c.1465-1120A>C, XM_005262800.1:c.1576-1120A>C, XM_006714124.2:c.1576-1120A>C, NC_000004.12:g.109967851=, NC_000004.11:g.110889007=, NC_000004.12:g.109967851A>C, 11568972, XM_005262802.2:c.1576-1120A>C, NM_001963.5:c.1576-1120A>C, rs11568972, XM_005262798.1:c.1576-1120A>C +PA166156646 rs11568993 PA27664 EGF NC_000004.12:109976159 1 0 0 0 0 58950882, XP_011530009.1:p.Cys622=, XR_938699.1:n.2430C>T, NP_001954.2:p.Cys659=, XM_005262797.1:c.1851C>T, XM_011531707.1:c.1866C>T, XM_006714124.2:c.1977C>T, XM_011531708.1:c.1977C>T, NC_000004.12:g.109976159=, NC_000004.12:g.109976159C>T, XM_011531709.1:c.1977C>T, XM_005262802.1:c.1977C>T, XP_005262853.1:p.Cys659=, NG_011441.1:g.68276=, NM_001963.5:c.1977C>T, XP_005262854.1:p.Cys617=, XM_005262800.1:c.1977C>T, NC_000004.11:g.110897315=, XP_005262855.1:p.Cys659=, XM_005262801.1:c.1977C>T, XM_005262796.2:c.1977C>T, XP_005262857.1:p.Cys659=, XP_005262858.1:p.Cys659=, XM_005262798.2:c.1977C>T, XP_005262856.1:p.Cys659=, NP_001171601.1:p.Cys659=, XM_005262797.2:c.1851C>T, NG_011441.1:g.68276C>T, NP_001171602.1:p.Cys617=, NM_001178130.2:c.1977C>T, XP_005262859.1:p.Cys659=, NC_000004.11:g.110897315C>T, NM_001178131.2:c.1851C>T, XR_427532.2:n.2430C>T, XM_005262800.2:c.1977C>T, XP_011530010.1:p.Cys659=, rs58950882, XM_005262796.1:c.1977C>T, 11568993, XP_011530011.1:p.Cys659=, NG_011441.2:g.68276C>T, NG_011441.2:g.68276=, XM_005262798.1:c.1977C>T, rs11568993, XM_005262802.2:c.1977C>T, XP_006714187.1:p.Cys659=, XM_005262801.2:c.1977C>T, XM_005262799.1:c.1977C>T +PA166156756 rs1157122 PA28489 GABRA1 NC_000005.10:161892308 1 0 0 0 0 NM_001127644.1:c.856+1258T>C, NG_011548.1:g.50118T>C, NC_000005.10:g.161892308T>C, NG_011548.1:g.50118=, NM_001127648.1:c.856+1258T>C, 57694082, NC_000005.9:g.161319314T>C, NM_001127645.1:c.856+1258T>C, NC_000005.9:g.161319314=, rs57694082, NM_000806.5:c.856+1258T>C, rs1157122, NM_001127643.1:c.856+1258T>C, 1157122, NC_000005.10:g.161892308= +PA166154139 rs11572076 PA125 CYP2C8 NC_000010.11:95067393 2 1 0 0 0 rs28399516, rs45629960, NC_000010.10:g.96827150=, XR_246073.1:n.428-36G>A, 11572076, NM_001198855.1:c.122-36G>A, NC_000010.10:g.96827150C>T, NM_001198854.1:c.26-36G>A, XR_945610.1:n.428-36G>A, rs57373234, NC_000010.11:g.95067393C>T, rs11572076, NM_001198853.1:c.122-36G>A, rs386519688, NG_007972.1:g.7105G>A, 28399516, NC_000010.11:g.95067393=, 386519688, NM_000770.3:c.332-36G>A, 57373234, NG_007972.1:g.7105=, 45629960 +PA166201543 rs11572078 PA125 CYP2C8 NC_000010.11:95067370 1 1 0 0 0 NC_000010.11:g.95067368_95067369dup, NG_007972.1:g.7135dup, 148194829, NC_000010.10:g.96827125_96827126dup, NC_000010.11:g.95067369dup, rs11572078, NG_007972.1:g.7129_7135=, 66993484, 66993483, 66993482, NC_000010.11:g.95067363_95067369=, NG_007972.1:g.7134_7135dup, NC_000010.10:g.96827120_96827126=, 11572078, 376036515, NC_000010.10:g.96827126dup, 138772583 +PA166154140 rs11572080 PA125 CYP2C8 NC_000010.11:95067273 65 16 12 0 0 11572080, NP_000761.3:p.Arg139Lys, NP_001185782.1:p.Arg69Lys, NC_000010.10:g.96827030C>T, NM_001198854.1:c.110G>A, rs60090616, NP_000761.3:p.Arg139=, rs11572080, NG_007972.1:g.7225G>T, NM_001198855.1:c.206G>A, NC_000010.11:g.95067273C>T, NP_001185783.1:p.Arg37Lys, NG_007972.1:g.7225G>A, 60090616, NC_000010.10:g.96827030=, NM_000770.3:c.416G>A, XR_945610.1:n.512G>A, NC_000010.11:g.95067273C>A, NC_000010.11:g.95067273=, NP_000761.3:p.Arg139Met, NP_001185784.1:p.Arg69Lys, NG_007972.1:g.7225=, NC_000010.10:g.96827030C>A, NM_001198853.1:c.206G>A, XR_246073.1:n.512G>A +PA166277001 rs11572093 PA125 CYP2C8 NC_000010.11:95064649 1 0 0 0 0 11572093, NC_000010.10:g.96824406C>T, NC_000010.11:g.95064649C>T, NG_007972.1:g.9849=, NG_007972.1:g.9849G>T, NC_000010.11:g.95064649=, NC_000010.10:g.96824406C>G, NC_000010.10:g.96824406=, NC_000010.11:g.95064649C>G, NG_007972.1:g.9849G>A, NC_000010.10:g.96824406C>A, NG_007972.1:g.9849G>C, rs11572093, NC_000010.11:g.95064649C>A +PA166154141 rs11572103 PA125 CYP2C8 NC_000010.11:95058349 13 4 3 0 0 NP_001185782.1:p.Ile199Phe, XR_246073.1:n.901A>T, NP_000761.3:p.Ile269Phe, NP_000761.3:p.Ile269=, rs52833642, NC_000010.10:g.96818106=, NM_000770.3:c.805A>T, rs11572103, NG_007972.1:g.16149A>T, NM_001198853.1:c.595A>T, NM_001198855.1:c.595A>T, NP_001185783.1:p.Ile167Phe, 52833642, NC_000010.11:g.95058349=, NC_000010.11:g.95058349T>A, NG_007972.1:g.16149=, NM_001198854.1:c.499A>T, rs58027822, 58027822, NP_001185784.1:p.Ile199Phe, NC_000010.10:g.96818106T>A, 11572103, XR_945610.1:n.901A>T +PA166157635 rs11573856 PA36602 TNFRSF11B NC_000008.11:118942756 1 0 0 0 0 NC_000008.10:g.119954995C>T, NM_002546.3:c.30+9036G>A, rs11573856, NC_000008.11:g.118942756C>T, 386519919, NC_000008.11:g.118942756=, NG_012202.1:g.14389G>A, 11573856, rs386519919, NC_000008.10:g.119954995=, rs60792989, NG_012202.1:g.14389=, 60792989 +PA166179039 rs11574026 PA37301 VDR NC_000012.12:47894463 1 0 0 0 0 57898778, NG_008731.1:g.15569=, NC_000012.11:g.48288246=, NC_000012.11:g.48288246G>A, 11574026, NC_000012.12:g.47894463G>A, NC_000012.12:g.47894463=, NG_008731.1:g.15569C>T, rs11574026 +PA166179077 rs11574077 PA37301 VDR NC_000012.12:47859144 2 1 0 0 0 rs11574077, NC_000012.12:g.47859144T>C, NC_000012.11:g.48252927=, NC_000012.11:g.48252927T>C, NG_008731.1:g.50888A>G, 11574077, 386519952, 57581725, NC_000012.12:g.47859144=, NG_008731.1:g.50888= +PA166233883 rs11575553 PA140 DDC NC_000007.14:50458521 4 0 0 0 0 NC_000007.13:g.50526219G>A, NC_000007.14:g.50458521=, NC_000007.13:g.50526219=, 386520028, NG_008742.1:g.111936C>T, 11575553, NG_008742.1:g.111936=, rs11575553, NC_000007.14:g.50458521G>A +PA166183554 rs11575856 PA31945 OPRM1 NC_000006.12:154091185 1 0 0 0 0 NC_000006.12:g.154091185=, NP_000905.3:p.Val293Ile, NC_000006.12:g.154091185G>A, NG_021208.2:g.85685=, rs11575856, NC_000006.11:g.154412320=, NG_021208.2:g.85685G>A, NP_000905.3:p.Val293=, 11575856, NC_000006.11:g.154412320G>A +PA166156868 rs11575893 PA162381084 CARTPT NC_000005.10:71719624 2 0 0 0 0 NG_015988.1:g.5462C>T, NM_004291.3:c.159+172C>T, 11575893, rs59893632, NC_000005.10:g.71719624C>T, NC_000005.9:g.71015451C>T, NC_000005.9:g.71015451=, 59893632, NC_000005.10:g.71719624=, rs11575893, NG_015988.1:g.5462= +PA166162745 rs11576941 PA27955 FAAH NC_000001.11:46409395 3 0 0 0 0 NC_000001.10:g.46875067=, NC_000001.11:g.46409395G>T, NG_012195.1:g.20129G>T, NG_012195.1:g.20129=, NC_000001.10:g.46875067G>T, rs11576941, 11576941, NC_000001.11:g.46409395= +PA166180992 rs11577910 PA27020 CTPS1 NC_000001.11:41011772 1 0 0 0 0 NC_000001.10:g.41477444G>A, NC_000001.10:g.41477444=, NG_034208.1:g.37474G>A, rs11577910, NC_000001.11:g.41011772=, NG_034208.1:g.37474=, 57529009, NC_000001.11:g.41011772G>A, 11577910 +PA166153828 rs11580141 PA34376 RGS5 NC_000001.11:163166201 1 0 0 0 0 NC_000001.10:g.163135991G>A, rs111174851, rs59021939, NC_000001.10:g.163135991G>C, NG_027731.2:g.160591C>G, NC_000001.10:g.163135991=, 11580141, NM_001254749.1:c.155+2057C>T, NG_027731.2:g.160591=, NC_000001.11:g.163166201G>A, NR_110699.1:n.258+3325G>A, NG_027731.2:g.160591C>T, NC_000001.11:g.163166201G>C, XR_241139.1:n.261+3325G>A, NM_001195303.2:c.-107-13485C>T, 59021939, 111174851, NC_000001.11:g.163166201=, NM_003617.3:c.155+2057C>T, rs11580141, NM_001254748.1:c.-170+2057C>T +PA166153829 rs11580409 PA142672422 ERICH3 NC_000001.11:74572544 3 1 0 0 0 XM_011540655.1:c.940T>G, XP_011538951.1:p.Leu1042Val, XP_011538952.1:p.Leu534Val, XP_011538955.1:p.Leu314Val, XM_005270450.3:c.940T>G, XP_011538957.1:p.Leu314Val, XM_011540652.1:c.940T>G, XM_005270449.1:c.940T>G, 58440344, NP_001002912.4:p.Leu1056=, XP_006710414.1:p.Leu360Val, rs17614662, XP_011538959.1:p.Leu314Val, rs52790803, 11580409, NC_000001.10:g.75038228A>C, NC_000001.11:g.74572544A>C, XM_011540653.1:c.940T>G, NC_000001.10:g.75038228=, XP_005270506.1:p.Leu314Val, XP_011538954.1:p.Leu314Val, XM_011540657.1:c.940T>G, 17614662, 52790803, XP_011538956.1:p.Leu314Val, NM_001002912.4:c.3166T>G, XM_005270450.1:c.940T>G, rs11580409, NP_001002912.4:p.Leu1056Val, XM_011540649.1:c.3124T>G, XM_011540654.1:c.940T>G, XM_011540656.1:c.940T>G, XP_011538958.1:p.Leu314Val, XM_011540651.1:c.940T>G, XM_006710349.2:c.2575T>G, XP_006710412.1:p.Leu859Val, XP_005270507.1:p.Leu314Val, XM_006710351.2:c.1078T>G, rs58440344, NC_000001.11:g.74572544=, XM_006710350.2:c.1120T>G, XM_011540650.1:c.1600T>G, XP_006710413.1:p.Leu374Val, XP_011538953.1:p.Leu314Val +PA166153830 rs11584174 PA391 NR1I3 NC_000001.11:161242663 2 0 0 0 0 rs57213059, NC_000001.10:g.161212453=, 57213059, NC_000001.10:g.161212453C>T, 11584174, rs11584174, NG_029113.1:g.548G>A, NC_000001.11:g.161242663=, NG_029113.1:g.548=, NC_000001.11:g.161242663C>T +PA166153831 rs11586238 PA28570 GAPDHP64 NC_000001.11:116720516 1 0 0 0 0 NC_000001.10:g.117263138C>G, NC_000001.11:g.116720516C>G, rs17377407, rs56747362, 17377407, NC_000001.10:g.117263138=, NC_000001.11:g.116720516=, rs11586238, 56747362, 11586238 +PA166153832 rs11587213 PA28057 FCER1G NC_000001.11:161215085 2 1 0 0 0 60552753, NG_013352.1:g.20771A>G, NG_029043.1:g.4789A>G, NM_004106.1:c.-237A>G, NG_013352.1:g.20771=, NG_029043.1:g.4789=, 36233991, rs17393255, 11587213, NC_000001.10:g.161184875=, NC_000001.10:g.161184875A>G, rs60552753, NC_000001.11:g.161215085=, NC_000001.11:g.161215085A>G, rs36233991, 17393255, rs11587213 +PA166153833 rs11591147 PA38617 PCSK9 NC_000001.11:55039974 2 0 0 0 0 rs11591147, NC_000001.11:g.55039974G>A, NR_110451.1:n.-248G>T, NG_009061.1:g.5428G>A, NP_777596.2:p.Arg46Leu, NC_000001.10:g.55505647=, NG_009061.1:g.5428G>T, NC_000001.11:g.55039974=, NC_000001.10:g.55505647G>A, NP_777596.2:p.Arg46=, 11591147, NC_000001.11:g.55039974G>T, NC_000001.10:g.55505647G>T, NM_174936.3:c.137G>T, NG_009061.1:g.5428=, NP_777596.2:p.Arg46His +PA166161139 rs11591741 PA26510 CHUK NC_000010.11:100216744 2 0 0 0 0 rs11591741, 56836891, NC_000010.11:g.100216744G>C, NG_028023.1:g.17844=, 11591741, 17667936, NC_000010.10:g.101976501G>C, NG_028023.1:g.17844C>G, 17885784, 58454597, NC_000010.10:g.101976501=, NC_000010.11:g.100216744= +PA166154511 rs1159744 PA33782 WNK1 NC_000012.12:825679 2 0 0 0 0 NC_000012.12:g.825679C>T, NG_007984.3:g.77621C>T, rs1159744, 1159744, NC_000012.12:g.825679C>G, NM_001184985.1:c.933-1363C>G, NM_213655.4:c.933-1363C>G, XM_005253733.1:c.933-1363C>G, XM_005253742.1:c.933-1363C>G, 60332740, XM_005253736.1:c.933-1363C>G, XM_011521004.1:c.933-1363C>G, NC_000012.12:g.825679=, XM_011520998.1:c.933-1363C>G, XM_011521001.1:c.933-1363C>G, XM_011521008.1:c.933-1363C>G, NG_007984.2:g.77621C>G, rs60332740, NG_007984.3:g.77621C>G, XM_005253738.1:c.933-1363C>G, XM_005253735.1:c.933-1363C>G, NC_000012.11:g.934845=, NM_014823.2:c.933-1363C>G, NM_018979.3:c.933-1363C>G, XM_011521002.1:c.933-1363C>G, 12823453, XM_005253737.1:c.933-1363C>G, XM_011520997.1:c.933-1363C>G, XM_005253734.1:c.933-1363C>G, XM_005253741.1:c.933-1363C>G, NC_000012.11:g.934845C>T, XM_011521007.1:c.933-1363C>G, XM_006719003.1:c.933-1363C>G, rs12823453, XM_005253739.1:c.933-1363C>G, NG_007984.3:g.77621=, XM_011520999.1:c.933-1363C>G, NC_000012.11:g.934845C>G, XM_011521000.1:c.933-1363C>G, XM_011521009.1:c.933-1363C>G, XM_005253740.1:c.933-1363C>G, XM_011521003.1:c.933-1363C>G, XM_011521006.1:c.933-1363C>G +PA166154142 rs11598702 PA31801 NT5C2 NC_000010.11:103138228 3 2 0 0 0 XM_005269645.3:c.-484+1178A>G, 17728547, rs52826896, XM_006717722.2:c.-281+1178A>G, XM_005269638.3:c.79+1178A>G, rs11598702, XM_005269640.1:c.-460+1178A>G, XM_005269639.3:c.88+1178A>G, XM_005269646.3:c.-483-26423A>G, XM_005269634.3:c.175+1178A>G, NC_000010.11:g.103138228T>C, XM_005269632.1:c.175+1178A>G, XM_006717723.2:c.-281+1178A>G, XM_005269638.1:c.79+1178A>G, XM_005269643.3:c.-398-31522A>G, XM_005269641.1:c.-460+1178A>G, XM_005269645.1:c.-484+1178A>G, XM_011539537.1:c.175+1178A>G, XM_011539534.1:c.175+1178A>G, NM_012229.4:c.175+1178A>G, NC_000010.10:g.104897985T>C, XM_011539536.1:c.-43+1178A>G, NC_000010.10:g.104897985T>G, XM_005269635.3:c.175+1178A>G, XM_005269632.3:c.175+1178A>G, XM_005269640.3:c.-460+1178A>G, XM_005269642.1:c.-460+1178A>G, XM_005269636.1:c.175+1178A>G, rs61084912, rs17728547, XM_006717724.2:c.-305+1178A>G, XM_005269633.1:c.175+1178A>G, NM_001134373.2:c.175+1178A>G, XM_005269646.1:c.-483-26423A>G, XM_005269636.3:c.175+1178A>G, XM_006717721.2:c.-459-26423A>G, 52826896, XM_005269634.1:c.175+1178A>G, XM_005269643.1:c.-398-31522A>G, XM_005269642.3:c.-460+1178A>G, 61084912, XM_005269644.1:c.-484+1178A>G, XM_011539535.1:c.-1974A>G, 11598702, NC_000010.11:g.103138228=, XM_005269635.1:c.175+1178A>G, NC_000010.11:g.103138228T>G, XM_005269637.1:c.88+1178A>G, NC_000010.10:g.104897985=, NG_042272.1:g.60079=, XM_005269639.1:c.88+1178A>G, NG_042272.1:g.60079A>C, XM_005269644.3:c.-484+1178A>G, XM_005269637.3:c.88+1178A>G, XM_005269633.3:c.175+1178A>G, NG_042272.1:g.60079A>G, XM_005269641.3:c.-460+1178A>G +PA166154459 rs11600347 PA213 KCNJ1 NC_000011.10:128863419 1 1 0 0 0 NM_153766.2:c.-192+3754G>T, NM_153767.3:c.-192+3104G>T, NC_000011.9:g.128733314C>A, NG_009379.1:g.8955G>T, rs56679964, NC_000011.9:g.128733314=, 11600347, 56679964, NM_153764.2:c.-22+3754G>T, NG_009379.1:g.8955=, NC_000011.10:g.128863419C>A, NC_000011.10:g.128863419=, rs11600347, NM_153765.2:c.30+3104G>T +PA166154460 rs11603334 PA164715867 ARAP1 NC_000011.10:72721940 1 0 0 0 0 rs11603334, NM_015242.4:c.-317C>T, XM_005273752.1:c.509+4680C>T, XM_005273748.1:c.509+4680C>T, NC_000011.10:g.72721940=, NM_001040118.2:c.509+4680C>T, NC_000011.9:g.72432985=, XM_005273753.1:c.509+4680C>T, NM_001135190.1:c.-317C>T, XM_005273750.1:c.509+4680C>T, 11603334, XM_005273754.1:c.-317C>T, XM_005273751.1:c.509+4680C>T, NC_000011.10:g.72721940G>A, NC_000011.9:g.72432985G>A, XM_005273749.1:c.509+4680C>T +PA166154774 rs1160351 PA162395090 MDGA2 NC_000014.9:47546779 1 1 0 0 0 XM_011536520.1:c.280+127738T>G, rs1160351, 17759263, 1160351, XM_011536523.1:c.280+127738T>G, 59240169, NM_001113498.2:c.73+127738T>G, rs59240169, XM_011536521.1:c.280+127738T>G, NC_000014.9:g.47546779=, rs17759263, NC_000014.8:g.48015982=, NC_000014.9:g.47546779A>C, XM_011536522.1:c.280+127738T>G, NC_000014.8:g.48015982A>C +PA166180009 rs11606194 PA29556 HTR3B NC_000011.10:113910259 2 1 0 0 0 rs11606194, NC_000011.9:g.113780981=, NG_011483.1:g.10393=, NG_011483.1:g.10393T>C, 59874016, NC_000011.10:g.113910259T>C, NC_000011.10:g.113910259=, NC_000011.9:g.113780981T>C, 11606194 +PA166160160 rs11607165 PA36196 STIP1 NC_000011.10:64196475 1 0 0 0 0 NC_000011.9:g.63963947T>A, rs11607165, NC_000011.10:g.64196475T>G, NC_000011.9:g.63963947T>G, 58820968, NC_000011.10:g.64196475=, 11607165, NC_000011.9:g.63963947=, NC_000011.10:g.64196475T>A +PA166165336 rs116134453 PA164719952 FAT1 NC_000004.12:186646315 1 0 0 0 0 NG_046994.1:g.85601A>G, 116134453, NC_000004.11:g.187567469=, NG_046994.1:g.85601=, NC_000004.12:g.186646315=, rs116134453, NC_000004.11:g.187567469T>C, NC_000004.12:g.186646315T>C +PA166155342 rs11615 PA155 ERCC1 NC_000019.10:45420395 48 13 0 0 0 rs1130005, 59923575, XP_005258692.1:p.Asn118=, rs17285882, XP_005258691.1:p.Asn118=, XP_005258693.1:p.Asn118=, NP_001159521.1:p.Asn118=, 1130005, rs17845191, XM_005258638.1:c.138T>C, rs2228629, 2228629, rs11615, NP_001974.1:p.Asn118=, rs3752251, 3752251, NC_000019.10:g.45420395A>G, XM_005258634.1:c.354T>C, XM_005258635.2:c.354T>C, NC_000019.10:g.45420395=, XM_005258637.1:c.354T>C, NM_202001.2:c.354T>C, rs3177700, rs17859564, XP_011524912.1:p.Asn118=, XM_005258636.1:c.354T>C, 3188446, XP_005258694.1:p.Asn118=, 17359303, XP_005258695.1:p.Asn46=, 17858003, 17845191, NG_015839.2:g.63434T>C, NM_001983.3:c.354T>C, rs17858003, XM_005258635.1:c.354T>C, rs59923575, NM_001166049.1:c.354T>C, NG_015839.2:g.63434=, 17859564, 17285882, NC_000019.9:g.45923653=, NP_973730.1:p.Asn118=, XM_005258636.3:c.354T>C, 3177700, NC_000019.9:g.45923653A>G, rs17359303, XM_011526610.1:c.354T>C, 11615, rs3188446 +PA166199582 rs116181528 PA30699 MCOLN1 NC_000019.10:7529361 1 1 0 0 0 NG_013374.1:g.210=, rs116181528, NC_000019.10:g.7529361C>A, NG_015806.1:g.11752C>T, 116181528, NG_015806.1:g.11752=, NC_000019.10:g.7529361C>T, NG_015806.1:g.11752C>A, NC_000019.9:g.7594247C>A, NG_013374.1:g.210C>T, NC_000019.10:g.7529361=, NC_000019.9:g.7594247=, NC_000019.9:g.7594247C>T, NG_013374.1:g.210C>A +PA166154823 rs11623866 PA28202 FNTB NC_000014.9:64986345 1 1 0 0 0 NC_000014.9:g.64986345G>C, NM_002028.3:c.-609G>C, rs60900534, NC_000014.8:g.65453063=, NM_001202558.1:c.7-17904G>C, 11623866, NM_001202559.1:c.328-17904G>C, rs56672810, NC_000014.8:g.65453063G>C, 56672810, rs11623866, 60900534, NC_000014.9:g.64986345= +PA166154824 rs11628713 PA134914395 PAPLN NC_000014.9:73255067 1 1 0 0 0 NM_173462.3:c.1546+49C>T, NC_000014.8:g.73721775=, rs11628713, NC_000014.8:g.73721775C>T, XM_011537292.1:c.1627+49C>T, XM_011537293.1:c.1648+49C>T, XM_005268185.1:c.1648+49C>T, XR_245731.1:n.1729+49C>T, XM_011537290.1:c.1627+49C>T, XM_011537294.1:c.1495+49C>T, XM_011537295.1:c.1648+49C>T, XM_005268184.1:c.1693+49C>T, NC_000014.9:g.73255067=, 61268577, NC_000014.9:g.73255067C>T, XM_005268187.1:c.1567+49C>T, XR_429333.2:n.2838+49C>T, XM_011537291.1:c.1627+49C>T, XM_005268186.1:c.1648+49C>T, rs61268577, XM_011537296.1:c.1648+49C>T, 11628713 +PA166160434 rs1163075 NC_000010.11:103261506 2 0 0 0 0 rs1163075, 1712507, NC_000010.10:g.105021263G>A, NC_000010.10:g.105021263G>C, 386520390, 9420889, 59309524, NC_000010.10:g.105021263=, NC_000010.11:g.103261506=, NC_000010.11:g.103261506G>A, 1163075, NC_000010.11:g.103261506G>C +PA166154931 rs11631682 NC_000015.10:74764017 1 0 0 0 0 NC_000015.9:g.75056358=, NC_000015.10:g.74764017G>A, rs11631682, NC_000015.9:g.75056358G>A, 11631682, rs59785721, NC_000015.10:g.74764017=, 59785721 +PA166154932 rs11636419 PA27093 CYP1A2 NC_000015.10:74755259 2 0 0 0 0 NG_008431.1:g.37718A>G, rs28969407, 28969407, NC_000015.10:g.74755259A>G, rs11636419, NM_000761.4:c.*171A>G, NG_061543.1:g.11415A>G, NG_061543.1:g.11415=, NM_000761.3:c.*171A>G, NG_008431.2:g.37718A>G, NC_000015.9:g.75047600=, 11636419, NG_008431.2:g.37718=, NC_000015.9:g.75047600A>G, NC_000015.10:g.74755259= +PA166164877 rs11636687 NC_000015.10:55312954 2 1 0 0 0 NC_000015.10:g.55312954T>G, NC_000015.9:g.55605152T>A, NC_000015.10:g.55312954=, NC_000015.9:g.55605152T>C, 11636687, NC_000015.10:g.55312954T>C, NC_000015.9:g.55605152=, rs11636687, 56822800, NC_000015.10:g.55312954T>A, NC_000015.9:g.55605152T>G +PA166268441 rs11640115 PA162392531,PA134918496 JMJD8,WDR24 NC_000016.10:685794 1 1 0 0 0 11640115, NC_000016.10:g.685794A>G, rs11640115, NC_000016.9:g.735794A>G, NC_000016.9:g.735794=, NC_000016.10:g.685794= +PA166155105 rs11640796 PA380 CACNA1H NC_000016.10:1175628 1 0 0 0 0 rs56920565, 11640796, XM_006720965.2:c.300-19344A>G, XM_005255652.3:c.300-19344A>G, XM_005255654.1:c.300-19344A>G, NC_000016.9:g.1225628A>G, NC_000016.9:g.1225628=, XM_006720969.2:c.300-19344A>G, XM_005255657.1:c.300-19344A>G, XM_006720968.2:c.300-19344A>G, XM_011522727.1:c.300-19344A>G, XM_006720963.2:c.300-19344A>G, XM_005255653.1:c.300-19344A>G, XM_006720964.2:c.300-19344A>G, NC_000016.10:g.1175628=, XM_011522726.1:c.300-19344A>G, XM_005255656.1:c.300-19344A>G, NG_012647.1:g.27388=, XM_006720967.2:c.300-19344A>G, XM_005255652.1:c.300-19344A>G, NM_021098.2:c.300-19344A>G, NG_012647.1:g.27388A>G, 56920565, rs11640796, NM_001005407.1:c.300-19344A>G, XM_005255655.1:c.300-19344A>G, NC_000016.10:g.1175628A>G, XR_932960.1:n.402-19344A>G +PA166155106 rs11644322 PA37398 WWOX NC_000016.10:79005703 1 0 0 0 0 NM_001291997.1:c.718-205905C>T, rs74247435, NC_000016.9:g.79039600=, XM_011523103.1:c.*29-205905C>T, XM_005255981.1:c.718-205905C>T, XM_005255982.1:c.517-205905C>T, rs11644322, 57874701, NG_011698.1:g.911050C>T, NC_000016.9:g.79039600C>T, NG_011698.1:g.911050=, NM_016373.3:c.1057-205905C>T, rs57874701, 74247435, NC_000016.10:g.79005703C>T, XR_243411.1:n.1336+9347C>T, NC_000016.10:g.79005703=, XM_005255980.1:c.410-205905C>T, XM_011523100.1:c.1153-205905C>T, 11644322 +PA166163329 rs11646054 PA35902 SLC5A2 NC_000016.10:31484350 1 0 0 0 0 rs11646054, NG_012892.1:g.6233G>T, NC_000016.10:g.31484350=, NC_000016.9:g.31495671G>T, NC_000016.10:g.31484350G>A, NC_000016.10:g.31484350G>C, NC_000016.9:g.31495671=, 11646054, NG_012892.1:g.6233G>C, NC_000016.9:g.31495671G>C, NC_000016.9:g.31495671G>A, NC_000016.10:g.31484350G>T, NG_012892.1:g.6233=, NG_012892.1:g.6233G>A +PA166161514 rs11646213 NC_000016.10:82609046 1 0 0 0 0 NC_000016.10:g.82609046=, rs11646213, 17174880, 58345585, NC_000016.9:g.82642651=, 11646213, NC_000016.9:g.82642651A>T, 57469729, NC_000016.10:g.82609046A>T +PA166183467 rs11648166 NC_000016.10:58662802 1 0 0 0 0 11648166, rs11648166, 60227937, NC_000016.10:g.58662802A>G, NC_000016.10:g.58662802=, NC_000016.9:g.58696706=, NC_000016.9:g.58696706A>G +PA166155107 rs11649514 PA33761 PRKCB NC_000016.10:24175240 1 1 0 0 0 rs17814396, NG_029003.1:g.344262G>T, rs11649514, NM_002738.6:c.1394+660G>T, NC_000016.9:g.24186561=, NC_000016.10:g.24175240G>T, 59690611, NG_029003.2:g.344262G>T, 17814396, NG_029003.2:g.344262=, 11649514, NG_029003.1:g.344262=, NC_000016.9:g.24186561G>T, NC_000016.10:g.24175240=, NM_212535.2:c.1394+660G>T, rs59690611 +PA166157721 rs1165016 PA38725 KCNT1 NC_000009.12:135714078 1 0 0 0 0 XM_011518877.1:c.246-499C>T, NC_000009.12:g.135714078C>T, NG_033070.1:g.16894=, rs60134718, NC_000009.12:g.135714078=, NC_000009.11:g.138605924C>G, XM_005263407.1:c.111-499C>T, 60134718, XM_011518878.1:c.246-499C>T, NG_033070.1:g.16894C>G, NC_000009.12:g.135714078C>G, rs1165016, NM_001272003.1:c.110+11710C>T, XR_930434.1:n.236G>A, 1165016, NC_000009.11:g.138605924=, NG_033070.1:g.16894C>T, NM_020822.2:c.111-499C>T, NC_000009.11:g.138605924C>T, XM_011518879.1:c.246-499C>T +PA166283542 rs11651488 PA30591 MAP2K6 NC_000017.11:69478057 1 1 0 0 0 11651488, NC_000017.11:g.69478057T>C, NC_000017.11:g.69478057=, NC_000017.10:g.67474198=, NG_029437.2:g.68361=, rs11651488, NG_029437.2:g.68361T>C, NC_000017.10:g.67474198T>C, 57660069 +PA166157242 rs11653 PA26047,PA31938 CALU,OPN1SW NC_000007.14:128769526 1 0 0 0 0 NC_000007.14:g.128769526T>A, rs1043570, rs11545533, NM_001199673.1:c.*432T>A, 3807311, rs3807311, NC_000007.13:g.128409580=, NG_033110.1:g.35235=, NG_033110.1:g.35235T>A, rs17475721, NR_074086.1:n.1033T>A, NC_000007.13:g.128409580T>A, rs11653, 1043570, NM_001199671.1:c.*359T>A, NM_001199672.1:c.*359T>A, 17475721, XM_011516588.1:c.*359T>A, 11545533, rs3183137, NM_001130674.2:c.*359T>A, NM_001219.4:c.*359T>A, 3183137, 11653, NC_000007.14:g.128769526= +PA166159120 rs11654492 NC_000017.11:22509320 1 0 0 0 0 NC_000017.10:g.22008649=, NC_000017.10:g.22008649A>C, NC_000017.11:g.22509320=, NC_000017.11:g.22509320A>C, 11654492, rs11654492, 58133350 +PA166157226 rs116551936 PA134878064 LINC00533 NC_000006.12:28651755 1 0 0 0 0 XR_952220.1:n.344-1420G>A, NC_000006.12:g.28651755=, XR_926657.1:n.332-1420G>A, NT_113891.2:g.141700G>A, NC_000006.11:g.28619532=, 116551936, NC_000006.12:g.28651755G>A, NT_113891.3:g.141594G>A, rs116551936, NC_000006.11:g.28619532G>A, XM_011547184.1:c.-333+58078C>T +PA166162381 rs116561224 NC_000018.10:66962261 1 0 0 0 0 rs116561224, NC_000018.9:g.64629498=, 117256221, NC_000018.10:g.66962261A>G, NC_000018.9:g.64629498A>G, NC_000018.10:g.66962261=, 116561224 +PA166155246 rs11656365 PA24383 ABCA8 NC_000017.11:68931279 1 0 0 0 0 XM_011524189.1:c.797+1009G>A, NM_001288986.1:c.797+1009G>A, XM_005256940.3:c.614+1009G>A, XM_011524190.1:c.797+1009G>A, XM_005256939.1:c.797+1009G>A, XR_243626.1:n.968+1009G>A, NM_001288985.1:c.797+1009G>A, NC_000017.10:g.66927420=, NC_000017.11:g.68931279=, XM_011524188.1:c.797+1009G>A, XM_011524191.1:c.797+1009G>A, NM_007168.3:c.797+1009G>A, 11656365, XM_005256941.1:c.797+1009G>A, XM_005256940.1:c.614+1009G>A, rs11656365, XM_011524192.1:c.797+1009G>A, NC_000017.11:g.68931279C>T, XM_005256938.1:c.797+1009G>A, NC_000017.10:g.66927420C>T +PA166155316 rs11662595 PA134982275 HRH4 NC_000018.10:24477006 1 0 0 0 0 NC_000018.9:g.22056970A>G, 52816511, NC_000018.10:g.24477006=, 58861250, XM_011526133.1:c.357+8055A>G, NC_000018.10:g.24477006A>G, NP_001137300.1:p.His118Arg, NP_067637.2:p.His206=, NM_001160166.1:c.*249A>G, rs17203342, rs58861250, rs11662595, rs52816511, NM_021624.3:c.617A>G, NP_067637.2:p.His206Arg, NC_000018.9:g.22056970=, NM_001143828.1:c.353A>G, 17203342, 11662595 +PA166155317 rs11664594 PA36601 TNFRSF11A NC_000018.10:62350973 1 0 0 0 0 NG_008098.1:g.30659A>G, 60439771, NM_001278268.1:c.283+1036A>T, XM_011526244.1:c.283+1036A>T, NC_000018.10:g.62350973=, rs11664594, NG_008098.1:g.30659=, XM_011526245.1:c.165+1036A>T, NC_000018.9:g.60018206A>T, XM_005266777.1:c.283+1036A>T, rs60439771, NC_000018.9:g.60018206A>G, NM_001270950.1:c.283+1036A>T, NM_003839.3:c.283+1036A>T, NG_008098.1:g.30659A>T, NM_003839.2:c.283+1036A>T, NC_000018.10:g.62350973A>T, NM_001270951.1:c.283+1036A>T, NC_000018.10:g.62350973A>G, XR_935263.1:n.298+1036A>T, NM_001270949.1:c.283+1036A>T, 11664594, NC_000018.9:g.60018206= +PA166155318 rs11665084 PA134982275 HRH4 NC_000018.10:24476802 1 0 0 0 0 NC_000018.9:g.22056766C>T, NM_001143828.1:c.194-45C>T, rs60698202, NC_000018.10:g.24476802C>T, NC_000018.10:g.24476802=, rs52834131, NM_021624.3:c.413C>T, rs11665084, NM_001160166.1:c.*45C>T, XM_011526133.1:c.357+7851C>T, 60698202, NP_067637.2:p.Ala138=, NP_067637.2:p.Ala138Val, 11665084, rs17203335, 17203335, NC_000018.9:g.22056766=, 52834131 +PA166155460 rs11666735 PA28055 FCAR NC_000019.10:54885501 2 0 0 0 0 NM_002000.3:c.337G=, XM_011526625.1:c.256G>A, XP_011545876.1:p.Asp86Asn, NT_187675.1:g.255740G>A, XM_011547574.1:c.256G=, NM_133271.3:c.337G>A, XP_011547000.1:p.Asp86Asn, NM_133277.3:c.35-2461G>A, XP_011547000.1:p.Asp86=, NC_000019.9:g.55396913G=, NT_187674.1:g.171521G>A, XP_011546855.1:p.Asp86=, NT_187693.1:g.868027G=, NM_133277.3:c.35-2506G>A, NM_133269.3:c.337G=, NP_579807.1:p.Asp101=, NP_579808.1:p.Asp101=, NM_133279.2:c.337G=, XP_011545857.1:p.Asp86Asn, NM_133273.3:c.301G=, NC_000019.10:g.54885501G>A, XM_011547519.1:c.71-2503A>G, NW_004166865.1:g.859869G=, XP_011545864.1:p.Asp86=, XP_011545868.1:p.Asp86Asn, XM_011547563.1:c.256G>A, XM_011526625.1:c.256G=, NT_187683.1:g.159719G>A, XP_011545869.1:p.Asp86Asn, NM_133272.3:c.301G>A, NM_133272.3:c.301G=, NC_000019.10:g.54885501=, XM_011547803.1:c.256G>A, XM_011547562.1:c.256G>A, XM_011547566.1:c.256G=, XP_011545864.1:p.Asp86Asn, XM_011547804.1:c.256G>A, XP_011545865.1:p.Asp86Asn, NM_133271.3:c.337G=, XM_011547579.1:c.256G>A, NW_003571060.1:g.789866G=, XP_011545875.1:p.Asp86Asn, XM_011547555.1:c.256G>A, NM_133278.3:c.301G>A, XM_011547578.1:c.256G>A, XM_011548553.1:c.256G>A, XP_011524927.1:p.Asp86=, XP_011545881.1:p.Asp86=, NT_187677.1:g.162868G=, XP_011546105.1:p.Asp86=, XM_011548699.1:c.71-2461A>G, XM_011547573.1:c.256G>A, XP_011545856.1:p.Asp86Asn, XP_011546999.1:p.Asp86Asn, NM_133273.3:c.301G>A, NM_133278.3:c.301G=, XM_011547517.1:c.256A=, XP_011545881.1:p.Asp86Asn, NP_579813.1:p.Asp113=, XM_011547566.1:c.256G>A, XP_011546106.1:p.Asp86=, XM_011547567.1:c.256G=, XM_011547554.1:c.256G=, NW_003571055.2:g.530733A>G, XP_011524928.1:p.Asp86=, NW_003571055.1:g.530732A=, NP_579813.1:p.Asp113Asn, NC_000019.9:g.55396913=, NT_187674.1:g.171521G=, NP_579812.1:p.Asp101=, XP_011545880.1:p.Asp86=, NT_187676.1:g.161451G>A, XM_011547803.1:c.256G=, XM_011548554.1:c.256G>A, NM_133274.3:c.301G>A, NW_003571055.2:g.530733A=, XM_011547563.1:c.256G=, NM_133277.3:c.35-2461A>G, NT_187671.1:g.164448G=, NT_187671.1:g.164448G>A, XM_011547574.1:c.256G>A, NC_000019.9:g.55396913G>A, XP_011545865.1:p.Asp86=, XM_011547555.1:c.256G=, XP_011545875.1:p.Asp86=, XM_011547567.1:c.256G>A, XM_011547578.1:c.256G=, XP_011545820.1:p.Asn86=, XP_011546106.1:p.Asp86Asn, NM_133269.3:c.337G>A, NM_133277.3:c.35-2506A>G, XM_011547554.1:c.256G>A, NW_003571060.1:g.789866G>A, NT_187676.1:g.161451G=, XM_011547519.1:c.71-2503G>A, XP_011524927.1:p.Asp86Asn, 11666735, NW_004166865.1:g.859869G>A, XP_011546999.1:p.Asp86=, NM_133279.2:c.337G>A, XP_011524928.1:p.Asp86Asn, XM_011547562.1:c.256G=, XM_011548698.1:c.256G>A, XM_011547579.1:c.256G=, XP_011545819.1:p.Asn86=, NT_187693.1:g.868027G>A, XP_011546856.1:p.Asp86Asn, NP_579808.1:p.Asp101Asn, NT_187683.1:g.159719G=, XM_011548698.1:c.256G=, XP_011545820.1:p.Asn86Asp, NC_000019.10:g.54885501G=, XM_011548553.1:c.256G=, NP_579805.1:p.Asp113Asn, XM_011548697.1:c.256G>A, 52806707, NT_187677.1:g.162868G>A, NW_003571055.1:g.530732A>G, XM_011547804.1:c.256G=, XP_011545856.1:p.Asp86=, NM_002000.3:c.337G>A, NM_133274.3:c.301G=, NP_579807.1:p.Asp101Asn, XM_011547518.1:c.256A>G, XM_011526626.1:c.256G=, XP_011546855.1:p.Asp86Asn, rs52806707, XP_011545869.1:p.Asp86=, rs11666735, XP_011546105.1:p.Asp86Asn, NP_001991.1:p.Asp113=, NT_187675.1:g.255740G=, XM_011548699.1:c.71-2461G>A, XP_011545876.1:p.Asp86=, XM_011548697.1:c.256G=, NP_579803.1:p.Asp113=, NP_579803.1:p.Asp113Asn, XP_011545880.1:p.Asp86Asn, XP_011546856.1:p.Asp86=, NP_579806.1:p.Asp101Asn, NP_579806.1:p.Asp101=, XM_011547517.1:c.256A>G, XM_011547573.1:c.256G=, XM_011548554.1:c.256G=, XP_011545857.1:p.Asp86=, NP_001991.1:p.Asp113Asn, NP_579812.1:p.Asp101Asn, NP_579805.1:p.Asp113=, XP_011545819.1:p.Asn86Asp, XM_011526626.1:c.256G>A, XM_011547518.1:c.256A=, XP_011545868.1:p.Asp86= +PA166155461 rs11671784 PA164722613,PA164722616,PA164722621 MIR23A,MIR24-2,MIR27A NC_000019.10:13836482 2 0 0 0 0 NR_036515.1:n.-193C>T, NC_000019.10:g.13836482G>A, NR_029495.1:n.178C>T, NR_029501.1:n.36C>T, rs11671784, NC_000019.9:g.13947296=, NR_029497.1:n.-123C>T, NC_000019.10:g.13836482=, NC_000019.9:g.13947296G>A, 11671784 +PA166185421 rs11672559 PA33329 PIP5K1C NC_000019.10:3676509 1 0 0 0 0 NC_000019.10:g.3676509C>T, NC_000019.10:g.3676509=, NC_000019.9:g.3676507C>T, NG_012161.2:g.28939G>A, 59631390, NC_000019.9:g.3676507=, NG_012161.2:g.28939=, 11672559, rs11672559, NG_012161.1:g.28939G>A, NG_012161.1:g.28939= +PA166155805 rs11676382 PA28660 GGCX NC_000002.12:85550510 15 4 0 0 0 NG_011811.2:g.16025G>C, XM_011532764.1:c.1262+45G>C, NC_000002.12:g.85550510=, XM_005264259.3:c.2078+45G>C, NM_000821.6:c.2084+45G>C, 11676382, NM_001142269.3:c.1913+45G>C, NC_000002.12:g.85550510C>G, NC_000002.11:g.85777633=, NG_011811.2:g.16025=, XM_011532765.1:c.1262+45G>C, rs11676382, XR_939677.1:n.2216G>C, NC_000002.11:g.85777633C>G, XM_005264259.1:c.2078+45G>C +PA166155806 rs11677416 PA29807 IL1A NC_000002.12:112771663 1 1 0 0 0 rs60563797, NC_000002.11:g.113529240T>C, 60563797, 11677416, NC_000002.12:g.112771663=, rs11677416, NC_000002.11:g.113529240=, rs56427039, NC_000002.12:g.112771663T>C, rs111174737, 56427039, 111174737 +PA166161448 rs11678615 PA24842 AOX1 NC_000002.12:200676898 1 0 0 0 0 rs11678615, 56554841, NC_000002.12:g.200676898C>T, NC_000002.12:g.200676898=, 11678615, 59352977, NC_000002.11:g.201541621C>T, NC_000002.11:g.201541621=, 57117998 +PA166179116 rs1168312 PA134987279 HELB NC_000012.12:66331422 2 0 0 0 0 17245677, rs1168312, 1168312, 61013182, NC_000012.12:g.66331422C>T, NC_000012.11:g.66725202C>T, NC_000012.12:g.66331422=, NC_000012.11:g.66725202=, NP_387467.2:p.Thr980=, 1691824, NP_387467.2:p.Thr980Ile +PA166154759 rs116855232 PA134963132 NUDT15 NC_000013.11:48045719 90 5 4 0 4 NC_000013.10:g.48619855C>T, rs116855232, NC_000013.11:g.48045719=, NC_000013.11:g.48045719C>T, 116855232, NG_047021.1:g.13153C>T, NC_000013.10:g.48619855=, NP_060753.1:p.Arg139=, NM_018283.2:c.415C>T, NP_060753.1:p.Arg139Cys, NG_047021.1:g.13153= +PA166155808 rs11685873 PA37838 SLC5A7 NC_000002.12:107995063 1 0 0 0 0 NC_000002.12:g.107995063G>A, NM_001305007.2:c.-257+1936G>A, NC_000002.12:g.107995063=, XM_011511581.1:c.133+1936G>A, 61375312, NG_042267.1:g.13550G>A, NG_042267.1:g.13550=, NC_000002.11:g.108611519G>A, XM_005264009.1:c.133+1936G>A, rs11685873, NM_001305005.2:c.448+1936G>A, NM_001305006.2:c.133+1936G>A, rs61375312, XM_005264008.1:c.448+1936G>A, NM_021815.4:c.448+1936G>A, XM_011511579.1:c.334+1936G>A, XM_011511580.1:c.196+1936G>A, 11685873, NC_000002.11:g.108611519= +PA166154835 rs116907618 PA30737 MEG3 NC_000014.9:100857798 1 0 0 0 0 NR_046471.1:n.1184-2893G>C, NR_046467.1:n.1428-2893G>C, NG_016853.2:g.83389G>C, NC_000014.8:g.101324135=, rs116907618, NR_046464.1:n.1324-2893G>C, NG_016853.2:g.83389G>A, NR_046468.2:n.1390-2893G>C, NR_046472.1:n.1314-2893G>C, NR_033360.1:n.1276-2893G>C, NR_046465.2:n.1298-2893G>C, NR_046466.1:n.1146-2893G>C, NG_045000.5:g.26530G>A, NG_045000.5:g.26530G>C, NR_046470.2:n.1420-2893G>C, NG_045000.5:g.26530=, NR_033358.1:n.1390-2893G>C, NG_016853.1:g.36691G>C, NC_000014.8:g.101324135G>C, NR_003530.2:n.1510-2893G>C, NC_000014.8:g.101324135G>A, NG_016853.2:g.83389=, NR_002766.2:n.1260-2893G>C, NR_046469.1:n.1290-2893G>C, NC_000014.9:g.100857798G>C, 116907618, NR_033359.1:n.1369-2893G>C, NC_000014.9:g.100857798G>A, NR_003531.3:n.1377-2893G>C, NC_000014.9:g.100857798= +PA166155809 rs11692021 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233682559 10 2 1 0 0 NG_002601.2:g.97816T>C, XP_005246138.1:p.Trp208Arg, NP_061950.2:p.Trp208=, NM_019076.4:c.855+63997T>C, rs17863779, 11692021, 57605148, NC_000002.11:g.234591205=, NC_000002.11:g.234591205T>C, NC_000002.12:g.233682559T>C, XM_005246081.1:c.622T>C, NC_000002.12:g.233682559=, NM_019077.2:c.622T>C, rs57605148, 17863779, NG_002601.2:g.97816=, NM_021027.2:c.855+9770T>C, rs11692021, NM_019075.2:c.855+45182T>C, NP_061950.2:p.Trp208Arg, XR_241241.1:n.941+9770T>C +PA166154512 rs1169288 PA36380 HNF1A NC_000012.12:120978847 2 0 0 0 0 XP_011537015.1:p.Ile27Leu, NP_000536.5:p.Ile27Leu, NP_000536.6:p.Ile27Phe, rs17847506, rs3751160, 17847506, NP_000536.6:p.Ile27=, 3751160, NG_011731.2:g.5102=, NG_011731.2:g.5102A>C, NC_000012.11:g.121416650A>C, NC_000012.12:g.120978847A>C, XP_005253988.1:p.Ile27Leu, XM_005253932.1:c.-60+145A>C, NP_000536.6:p.Ile27Leu, NC_000012.11:g.121416650A>T, 16950605, NC_000012.11:g.121416650=, NG_011731.2:g.5102A>T, NC_000012.12:g.120978847A>T, NM_000545.6:c.79A>C, NC_000012.12:g.120978847=, rs1169288, NM_000545.5:c.79A>C, 1169288, XM_011538713.1:c.79A>C, rs16950605, NP_001293108.1:p.Ile27Leu, NM_001306179.1:c.79A>C, XM_005253931.2:c.79A>C, XM_005253931.1:c.79A>C +PA166177408 rs11694911 NC_000002.12:10433072 1 0 0 0 0 58819068, 11694911, NC_000002.11:g.10573198=, NC_000002.11:g.10573198C>T, rs11694911, NC_000002.12:g.10433072=, 386520787, NC_000002.12:g.10433072C>T +PA166261345 rs116982346 NC_000003.12:108867260 1 0 0 0 0 NC_000003.11:g.108586107=, NC_000003.12:g.108867260=, NC_000003.12:g.108867260G>C, 116982346, rs116982346, NC_000003.11:g.108586107G>C +PA166154696 rs1170191 PA27315 DGKH NC_000013.11:42101357 1 0 0 0 0 NG_029191.3:g.66322=, NM_178009.4:c.193-26106A>G, rs1751420, rs1170191, rs17696101, NG_029191.3:g.66322A>G, 386520815, NC_000013.11:g.42101357A>T, NC_000013.10:g.42675493A>T, rs386520815, NC_000013.10:g.42675493A>G, XM_005266270.1:c.193-26106A>G, NM_001204504.2:c.193-26106A>G, NC_000013.10:g.42675493=, NG_029191.3:g.66322A>T, NM_152910.5:c.193-26106A>G, rs61584050, 17696101, NC_000013.11:g.42101357=, 61584050, NC_000013.11:g.42101357A>G, 1170191, 1751420 +PA166156014 rs11702425 PA26711,PA327 COL18A1,SLC19A1 NC_000021.9:45488441 1 0 0 0 0 NP_085059.2:p.Leu820=, NP_569711.2:p.Leu1055=, XM_005261182.1:c.1896T>C, NG_011903.1:g.88259T>G, NC_000021.8:g.46908355T>G, NC_000021.9:g.45488441T>C, NC_000021.8:g.46908355=, NC_000021.8:g.46908355T>A, NC_000021.9:g.45488441T>A, NC_000021.8:g.46908355T>C, rs11702425, NM_130445.3:c.1920T>C, NC_000021.9:g.45488441=, NM_130444.2:c.3165T>C, NC_000021.9:g.45488441T>G, 60194184, NG_011903.1:g.88259T>A, NG_011903.1:g.88259=, NG_011903.1:g.88259T>C, XP_005261235.1:p.Leu820=, XP_005261237.1:p.Leu787=, XM_005261181.1:c.1920T>C, XP_005261236.1:p.Leu820=, NP_569712.2:p.Leu640=, XM_005261180.1:c.2361T>C, rs60194184, NM_130445.2:c.1920T>C, XP_005261238.1:p.Leu640=, XP_005261239.1:p.Leu632=, NM_030582.3:c.2460T>C, XM_005261179.1:c.2460T>C, XM_005261178.1:c.2460T>C, 11702425 +PA166156015 rs11702779 PA34884 RUNX1 NC_000021.9:34996362 2 0 0 0 0 NC_000021.8:g.36368659=, 11702779, XM_005261070.1:c.-46+52480C>T, 58072381, NC_000021.9:g.34996362G>A, XM_011529766.1:c.58+52480C>T, XR_937576.1:n.237+52480C>T, NC_000021.9:g.34996362G>C, NC_000021.8:g.36368659G>A, rs58072381, rs11702779, NC_000021.8:g.36368659G>C, XM_005261069.3:c.58+52480C>T, NG_011402.2:g.993350C>T, XM_011529767.1:c.58+52480C>T, NG_011402.2:g.993350=, XM_005261069.1:c.58+52480C>T, XM_011529770.1:c.58+52480C>T, NC_000021.9:g.34996362=, XM_005261067.1:c.58+52480C>T, NG_011402.2:g.993350C>G, XM_011529768.1:c.58+52480C>T, NM_001754.4:c.58+52480C>T +PA166156139 rs11704959 PA24584 ADORA2A NC_000022.11:24424515 1 0 0 0 0 11704959, NC_000022.11:g.24424515C>A, NR_103546.1:n.3906-8616C>A, NC_000022.10:g.24820483=, rs11704959, NM_001278500.1:c.-275+887C>A, NC_000022.11:g.24424515=, NG_052804.1:g.5919=, NC_000022.10:g.24820483C>A, NG_052804.1:g.5919C>A +PA166156443 rs11706052 PA134921814,PA29863,PA164722543,PA164722712 DALRD3,IMPDH2,MIR191,MIR425 NC_000003.12:49026677 13 2 0 0 0 NC_000003.12:g.49026677=, NM_000884.2:c.819+10T>C, 11706052, rs11706052, NG_012091.1:g.7766=, NC_000003.12:g.49026677A>G, XM_006713128.2:c.1029+10T>C, NC_000003.11:g.49064110A>G, NG_012091.1:g.7766T>C, NC_000003.11:g.49064110= +PA166159100 rs11709385 PA29945 ITGA9 NC_000003.12:37471156 1 0 0 0 0 NG_016166.1:g.23835G>C, 11709385, rs11709385, NC_000003.11:g.37512647=, NG_016166.1:g.23835=, NC_000003.12:g.37471156G>C, NC_000003.11:g.37512647G>T, NG_016166.1:g.23835G>T, NC_000003.12:g.37471156G>T, NC_000003.11:g.37512647G>C, NC_000003.12:g.37471156= +PA166156444 rs11710163 PA34183 RAF1 NC_000003.12:12654789 1 1 0 0 0 NG_007467.1:g.14391T>C, XM_011533975.1:c.-250+9024T>C, NC_000003.11:g.12696288A>G, NC_000003.12:g.12654789A>G, NC_000003.11:g.12696288=, XM_005265356.1:c.-120+9024T>C, 58836253, XM_011533974.1:c.-120+9024T>C, XM_005265358.1:c.-157+9024T>C, XM_005265358.3:c.-157+9024T>C, NC_000003.12:g.12654789=, NM_002880.3:c.-27+9024T>C, XM_005265360.1:c.-27+9024T>C, 11710163, NG_007467.1:g.14391=, rs11710163, XM_005265355.1:c.-27+8580T>C, XM_005265359.3:c.-157+9024T>C, rs58836253, XM_005265359.1:c.-157+9024T>C, XM_005265357.1:c.-27+9024T>C +PA166178423 rs117101815 NC_000006.12:138131313 1 1 0 0 0 NC_000006.12:g.138131313G>A, NC_000006.11:g.138452450=, 117101815, NC_000006.12:g.138131313G>T, NC_000006.11:g.138452450G>T, NC_000006.11:g.138452450G>A, rs117101815, NC_000006.12:g.138131313= +PA166156445 rs11716445 PA134865095 RHOA NC_000003.12:49368662 1 1 0 0 0 NM_001313947.1:c.157-6036C>T, NG_051308.1:g.48436C>T, NC_000003.12:g.49368662G>A, 58714945, NC_000003.12:g.49368662=, NC_000003.11:g.49406095=, NM_001313946.1:c.156+6772C>T, XM_005265116.1:c.130-147C>T, 11716445, NM_001664.3:c.157-114C>T, NM_001313945.1:c.-87-114C>T, 56548113, NM_001313944.1:c.130-147C>T, rs56548113, rs58714945, NG_051308.1:g.48436=, rs11716445, NM_001313943.1:c.157-114C>T, XM_011533695.1:c.157-114C>T, NC_000003.11:g.49406095G>A, NM_001313941.1:c.157-114C>T +PA166156446 rs11719165 NC_000003.12:194865359 1 1 0 0 0 57619894, NC_000003.11:g.194586088T>C, NC_000003.12:g.194865359T>C, rs57619894, 11719165, NC_000003.11:g.194586088=, rs11719165, NC_000003.12:g.194865359= +PA166156649 rs11722476 PA134954731 SMARCAD1 NC_000004.12:94249688 1 0 0 0 0 NM_001128430.1:c.740G>A, 11722476, NC_000004.11:g.95170839G>A, NG_031945.1:g.47081G>A, 17854343, 52806084, NP_064544.2:p.Ser247Asn, XR_938766.1:n.995G>A, 60379623, rs11722476, NC_000004.12:g.94249688G>A, NP_001121902.1:p.Ser247Asn, NP_064544.2:p.Ser247=, NM_001128429.2:c.740G>A, NP_001121901.1:p.Ser247Asn, rs17854343, NR_045644.1:n.1066G>A, rs60379623, NG_031945.1:g.47081=, rs52806084, NC_000004.12:g.94249688=, NM_020159.4:c.740G>A, XR_938765.1:n.995G>A, NC_000004.11:g.95170839= +PA166156650 rs11725706 PA24933 AREG NC_000004.12:74462391 1 0 0 0 0 NC_000004.11:g.75328108G>A, rs57576418, rs11725706, NC_000004.11:g.75328108=, NC_000004.12:g.74462391=, NC_000004.12:g.74462391G>A, 11725706, 57576418 +PA166156651 rs11726322 PA37186 UGT2B10 NC_000004.12:68825803 2 0 0 0 0 NM_001290091.1:c.256-607G>C, NC_000004.11:g.69691521G>C, NT_167250.1:g.403772G>C, NT_167250.2:g.401822G>C, 11726322, 117249257, rs11726322, NM_001075.5:c.1000-607G>C, NC_000004.11:g.69691521=, NC_000004.12:g.68825803=, NM_001144767.2:c.748-607G>C, rs114467430, 114467430, NC_000004.12:g.68825803G>C, rs117249257 +PA166156652 rs11730582 PA36085 SPP1 NC_000004.12:87975269 1 0 0 0 0 NM_001040060.1:c.-546T>C, rs11730582, NC_000004.11:g.88896421=, NG_054758.1:g.1902=, NC_000004.12:g.87975269T>C, NC_000004.12:g.87975269=, NG_030362.1:g.4620T>C, NC_000004.11:g.88896421T>A, NC_000004.11:g.88896421T>C, NC_000004.12:g.87975269T>A, NG_030362.1:g.4620T>A, NM_001251830.1:c.-696T>C, 11730582, NM_000582.2:c.-546T>C, NM_001040058.1:c.-546T>C, NM_001251829.1:c.-546T>C, NG_030362.1:g.4620=, NG_054758.1:g.1902T>A, NG_054758.1:g.1902T>C +PA166165342 rs117308378 PA134982718 ADGRG7 NC_000003.12:100677383 1 0 0 0 0 NC_000003.12:g.100677383=, NC_000003.12:g.100677383T>C, NC_000003.11:g.100396227=, rs117308378, NC_000003.11:g.100396227T>C, 117308378 +PA166178408 rs117341846 PA134877725 MAST3 NC_000019.10:18125871 1 1 0 0 0 NC_000019.10:g.18125871=, NC_000019.9:g.18236681=, 117341846, NC_000019.10:g.18125871C>T, rs117341846, NC_000019.9:g.18236681C>T +PA166156869 rs11739136 PA30041,PA221 KCNIP1,KCNMB1 NC_000005.10:170383792 4 1 0 0 0 XM_011534539.1:c.88+29828C>T, NC_000005.10:g.170383792=, NG_011452.2:g.10843G>A, NP_004128.1:p.Glu65Lys, 60174556, NG_011538.1:g.34916C>T, NG_011452.2:g.10843=, NC_000005.9:g.169810796C>T, 52831846, NM_004137.3:c.193G>A, NC_000005.9:g.169810796=, NG_011538.2:g.34916=, NP_004128.1:p.Glu65=, NM_001034838.2:c.88+29828C>T, NG_011538.2:g.34916C>T, rs117698235, NC_000005.10:g.170383792C>T, rs11739136, 11739136, NG_011538.1:g.34916=, rs60174556, 117698235, XM_006714861.1:c.-1+29828C>T, rs52831846 +PA166165271 rs117412760 PA31691 NOX3 NC_000006.12:155440032 1 0 0 0 0 NG_011995.1:g.20872=, NC_000006.12:g.155440032C>T, NC_000006.11:g.155761166C>T, NG_011995.1:g.20872G>A, NC_000006.12:g.155440032=, NP_056533.1:p.Ala198Thr, NP_056533.1:p.Ala198Ser, rs117412760, NC_000006.12:g.155440032C>A, NC_000006.11:g.155761166=, 117412760, NP_056533.1:p.Ala198=, NC_000006.11:g.155761166C>A, NG_011995.1:g.20872G>T +PA166165358 rs117412990 PA128394615 TMEM131L NC_000004.12:153632540 1 0 0 0 0 NC_000004.11:g.154553692=, NC_000004.11:g.154553692G>A, rs117412990, NC_000004.12:g.153632540G>A, 117412990, NC_000004.12:g.153632540= +PA166157686 rs117421960 NC_000008.11:90711178 1 0 0 0 0 NC_000008.11:g.90711178=, rs117421960, NC_000008.11:g.90711178T>G, NC_000008.10:g.91723406=, NC_000008.10:g.91723406T>G, 117421960, XR_928389.1:n.196-1622A>C +PA166178429 rs117458836 NC_000010.11:95013625 2 1 0 0 0 117458836, NC_000010.11:g.95013625G>T, NC_000010.10:g.96773382G>A, NC_000010.11:g.95013625=, NC_000010.11:g.95013625G>A, NC_000010.10:g.96773382=, rs117458836, NC_000010.10:g.96773382G>T +PA166156870 rs11746641 PA147 DRD1 NC_000005.10:175439088 1 1 0 0 0 NC_000005.9:g.174866091=, 11746641, NC_000005.10:g.175439088=, NC_000005.9:g.174866091T>G, NC_000005.10:g.175439088T>G, rs11746641, NG_011802.1:g.10073=, NG_011802.1:g.10073A>C +PA166232206 rs11746675 PA28995 GRM6 NC_000005.10:178986946 1 0 0 0 0 11746675, NC_000005.10:g.178986946T>C, NC_000005.9:g.178413947T>A, NG_008105.1:g.13178A>G, NC_000005.10:g.178986946T>A, NG_008105.1:g.13178A>C, NC_000005.10:g.178986946=, NC_000005.9:g.178413947T>G, 117036541, NC_000005.10:g.178986946T>G, NC_000005.9:g.178413947T>C, rs11746675, NG_008105.1:g.13178=, NG_008105.1:g.13178A>T, NP_000834.2:p.Gly464=, 57896353, NC_000005.9:g.178413947= +PA166165338 rs117484357 PA162409804 ZMIZ1 NC_000010.11:79274223 1 0 0 0 0 rs117484357, NG_028289.1:g.210189=, NC_000010.11:g.79274223=, NC_000010.10:g.81033980C>T, NC_000010.10:g.81033980=, NC_000010.11:g.79274223C>T, NG_028289.1:g.210189C>T, 117484357 +PA166156871 rs11749035 PA147 DRD1 NC_000005.10:175456049 1 1 0 0 0 NC_000005.9:g.174883052C>T, rs11749035, NC_000005.10:g.175456049C>T, NC_000005.9:g.174883052=, 11749035, NC_000005.10:g.175456049= +PA166242161 rs117491755 PA25076 ASTN2 NC_000009.12:116881377 1 0 0 0 0 NC_000009.11:g.119643656=, rs117491755, NC_000009.11:g.119643656A>C, NG_021409.2:g.538681=, NG_021409.1:g.538662=, NG_021409.2:g.538681T>G, NC_000009.12:g.116881377=, 117491755, NC_000009.12:g.116881377A>C, NG_021409.1:g.538662T>G +PA166195022 rs11749255 NC_000005.10:174642665 1 1 0 0 0 17795542, NC_000005.9:g.174069668=, rs11749255, NC_000005.9:g.174069668A>G, 11749255, 60952556, NC_000005.10:g.174642665=, NC_000005.10:g.174642665A>G, 56604115 +PA166155970 rs117532069 PA25724 DOK5 NC_000020.11:54684529 1 1 0 0 0 rs117532069, NC_000020.10:g.53301068G>A, NC_000020.11:g.54684529G>A, 117532069, NC_000020.10:g.53301068=, NC_000020.11:g.54684529= +PA166261321 rs11753309 NC_000006.12:31352868 1 0 0 0 0 118063460, rs11753309, NG_023187.1:g.9345=, 114455751, NG_023187.1:g.9345G>T, NC_000006.12:g.31352868C>A, NC_000006.12:g.31352868=, NC_000006.11:g.31320645=, NC_000006.11:g.31320645C>A, 113449461, 11753309 +PA166156313 rs1175542 PA281 PPARG NC_000003.12:12424715 1 0 0 0 0 rs17241475, XM_011533843.1:c.820-9183G>A, NM_138711.3:c.1186+7561G>A, XM_011533844.1:c.736-9183G>A, rs60112637, NC_000003.12:g.12424715=, NG_011749.1:g.141866=, NM_015869.4:c.1270+7561G>A, NM_005037.5:c.1186+7561G>A, XM_011533841.1:c.1186+7561G>A, 60112637, NC_000003.11:g.12466214=, NG_011749.1:g.141866G>A, NC_000003.11:g.12466214G>A, NC_000003.12:g.12424715G>A, NM_138712.3:c.1186+7561G>A, 1699364, XM_011533842.1:c.1270+7561G>A, rs1175542, 1175542, XM_011533840.1:c.1186+7561G>A, rs1699364, 17241475 +PA166157450 rs11762213 PA30763 MET NC_000007.14:116699228 1 0 0 0 0 NC_000007.14:g.116699228=, NM_000245.2:c.144G>A, XM_011516223.1:c.201G>A, NM_001127500.1:c.144G>A, XP_005250410.1:p.Ala67=, rs11762213, NP_001120972.1:p.Ala48=, XM_006715991.2:c.-91+26651G>A, XM_005250353.1:c.201G>A, NC_000007.13:g.116339282=, XP_011514525.1:p.Ala67=, 11762213, NC_000007.13:g.116339282G>A, NG_008996.1:g.31824=, NP_000236.2:p.Ala48=, NC_000007.14:g.116699228G>A, NG_008996.1:g.31824G>A +PA166157451 rs11763492 PA26692 CNTNAP2 NC_000007.14:147247997 1 0 0 0 0 NC_000007.13:g.146945089G>A, NC_000007.14:g.147247997G>A, NG_007092.3:g.1136997G>A, NG_007092.3:g.1136997=, rs59234011, 11763492, NG_007092.2:g.1136637G>A, rs11763492, NC_000007.14:g.147247997=, NC_000007.13:g.146945089=, NM_014141.5:c.1349-52144G>A, 59234011, NG_007092.2:g.1136637= +PA166160628 rs117648444 PA134952671,PA166049147 IFNL3,IFNL4 NC_000019.10:39247938 1 1 0 0 0 117648444, NC_000019.9:g.39738578=, NC_000019.9:g.39738578G>A, NG_042193.1:g.2034C>T, NG_055295.1:g.5919=, rs117648444, NC_000019.10:g.39247938G>A, NG_042193.1:g.2034=, NG_055295.1:g.5919C>T, NC_000019.10:g.39247938= +PA166154322 rs1176713 PA29555 HTR3A NC_000011.10:113989703 4 0 0 0 0 NP_001155244.1:p.Leu444=, NC_000011.9:g.113860425A>G, NM_213621.3:c.1491A>G, rs1672695, 1672695, 61098761, NC_000011.10:g.113989703=, rs17857792, rs3741307, 3741307, rs61098761, NC_000011.9:g.113860425=, NP_000860.3:p.Leu459=, NG_013058.1:g.19629A>G, 1177065, NM_001161772.2:c.1332A>G, NG_013058.1:g.19629=, 17849565, NP_998786.2:p.Leu497=, NR_046363.1:n.1467A>G, 1176713, rs1176713, NC_000011.10:g.113989703A>G, NM_000869.5:c.1395A>G, rs17849565, 17857792, NP_000860.2:p.Leu465=, rs1177065 +PA166180019 rs1176719 PA29555 HTR3A NC_000011.10:113981465 1 0 0 0 0 rs1176719, NG_013058.1:g.11391=, NC_000011.10:g.113981465G>A, NC_000011.10:g.113981465=, NC_000011.9:g.113852187G>A, NC_000011.9:g.113852187=, NG_013058.1:g.11391G>A, 1176719 +PA166154323 rs1176722 PA29555 HTR3A NC_000011.10:113977752 1 0 0 0 0 NC_000011.10:g.113977752G>A, NM_000869.5:c.86-19G>A, NG_013058.1:g.7678=, NR_046363.1:n.319-19G>A, NC_000011.9:g.113848474=, rs1569395, NM_001161772.2:c.23-19G>A, 1176722, rs1176722, NM_213621.3:c.86-19G>A, NC_000011.9:g.113848474G>A, NC_000011.10:g.113977752=, NG_013058.1:g.7678G>A, 1569395 +PA166154324 rs1176744 PA29556 HTR3B NC_000011.10:113932306 10 1 0 0 0 61541040, rs52824992, XP_011541365.1:p.Tyr118Ser, 12789060, rs17116132, 52824992, NG_011483.1:g.32440A>C, NC_000011.10:g.113932306A>C, NC_000011.9:g.113803028=, rs61541040, NC_000011.10:g.113932306=, NP_006019.1:p.Tyr129Ser, XM_011543063.1:c.353A>C, XM_011543066.1:c.353A>C, 1176744, rs1176744, XP_011541368.1:p.Tyr118Ser, rs12789060, 17116132, rs1672726, 1672726, XP_011541367.1:p.Tyr60Ser, 386521153, NC_000011.9:g.113803028A>C, XM_011543065.1:c.179A>C, XP_011541366.1:p.Tyr62Ser, NG_011483.1:g.32440=, NM_006028.4:c.386A>C, NP_006019.1:p.Tyr129=, rs386521153, XM_011543064.1:c.185A>C +PA166154325 rs1176746 PA29556 HTR3B NC_000011.10:113931879 1 0 0 0 0 NC_000011.9:g.113802601A>G, XM_011543064.1:c.167+12A>G, NC_000011.9:g.113802601A>C, NC_000011.10:g.113931879=, NG_011483.1:g.32013=, 1176746, rs1176746, 60327454, NC_000011.9:g.113802601A>T, XM_011543066.1:c.335+12A>G, rs60327454, 1672727, NC_000011.10:g.113931879A>C, NG_011483.1:g.32013A>C, 12788140, rs1672727, XM_011543063.1:c.335+12A>G, XM_011543065.1:c.161+12A>G, NC_000011.9:g.113802601=, rs12788140, NC_000011.10:g.113931879A>G, NG_011483.1:g.32013A>G, NM_006028.4:c.368+12A>G, NC_000011.10:g.113931879A>T, NG_011483.1:g.32013A>T +PA166170609 rs117714106 NC_000014.9:84338144 1 0 0 0 0 NC_000014.8:g.84804488C>T, NC_000014.9:g.84338144=, rs117714106, 386424630, 117714106, NC_000014.8:g.84804488=, NC_000014.9:g.84338144C>T +PA166157636 rs11774231 PA30701 MCPH1 NC_000008.11:6646795 1 0 0 0 0 NC_000008.10:g.6504316C>T, 11774231, rs11774231, NR_125386.1:n.70-19485G>A, NC_000008.10:g.6504316=, NC_000008.11:g.6646795C>T, NC_000008.11:g.6646795=, NG_016619.2:g.245204=, NG_016619.2:g.245204C>T +PA166156314 rs1177809 PA281 PPARG NC_000003.12:12424991 1 0 0 0 0 NC_000003.12:g.12424991=, NC_000003.11:g.12466490A>G, rs17241489, NG_011749.1:g.142142=, NM_015869.4:c.1270+7837A>G, 17036686, NG_011749.1:g.142142A>G, NM_138711.3:c.1186+7837A>G, NG_011749.1:g.142142A>C, 1177809, rs1177809, NM_005037.5:c.1186+7837A>G, NM_138712.3:c.1186+7837A>G, NC_000003.11:g.12466490A>C, 17241489, XM_011533840.1:c.1186+7837A>G, NC_000003.12:g.12424991A>C, XM_011533843.1:c.820-8907A>G, NC_000003.12:g.12424991A>G, XM_011533844.1:c.736-8907A>G, NC_000003.11:g.12466490=, XM_011533841.1:c.1186+7837A>G, XM_011533842.1:c.1270+7837A>G, rs17036686, rs1797911, 1797911 +PA166259922 rs11782370 NC_000008.11:23512505 1 1 0 0 0 NC_000008.11:g.23512505C>T, NC_000008.10:g.23370018=, rs11782370, 11782370, NC_000008.11:g.23512505=, NC_000008.10:g.23370018C>T +PA166177333 rs11784693 PA28587 GATA4 NC_000008.11:11753165 1 0 0 0 0 NC_000008.11:g.11753165C>T, NC_000008.10:g.11610674C>T, NG_008177.2:g.81247=, NC_000008.11:g.11753165=, NC_000008.10:g.11610674=, 61468687, rs11784693, NG_008177.2:g.81247C>T, 386521235, 11784693 +PA166177344 rs11785481 PA142672368,PA28587 C8orf49,GATA4 NC_000008.11:11759633 1 0 0 0 0 NC_000008.10:g.11617142C>T, NC_000008.11:g.11759633C>T, NG_008177.2:g.87715C>T, NC_000008.10:g.11617142=, NC_000008.11:g.11759633=, 11785481, NG_008177.2:g.87715=, rs11785481 +PA166290052 rs117872433 PA123 CYP2B6 NC_000019.10:41016741 2 0 0 0 0 NP_000758.1:p.Ala464Ser, NG_007929.1:g.30443=, NP_000758.1:p.Ala464Thr, NC_000019.9:g.41522646G>A, NP_000758.1:p.Ala464=, NG_007929.1:g.30443G>A, NC_000019.10:g.41016741G>T, NC_000019.9:g.41522646=, 117872433, NC_000019.10:g.41016741=, NC_000019.9:g.41522646G>T, rs117872433, NC_000019.10:g.41016741G>A, NG_007929.1:g.30443G>T +PA166165348 rs117876855 NC_000013.11:81865224 1 0 0 0 0 117876855, NC_000013.11:g.81865224=, rs117876855, NC_000013.11:g.81865224A>G, NC_000013.10:g.82439359=, NC_000013.10:g.82439359A>G +PA166157832 rs11788456 PA28983 GRIN3A NC_000009.12:101585868 1 1 0 0 0 NC_000009.12:g.101585868G>A, rs11788456, NC_000009.11:g.104348150=, NC_000009.11:g.104348150G>A, NM_133445.2:c.2767-6508C>T, 11788456, NC_000009.12:g.101585868=, rs13292585, 58530859, rs58530859, 13292585 +PA166176382 rs117937072 PA267 ABCB1 NC_000007.14:87535033 1 0 0 0 0 NG_011513.1:g.183216T>G, 117937072, NC_000007.14:g.87535033=, NC_000007.13:g.87164349A>G, NC_000007.14:g.87535033A>G, NG_011513.1:g.183216=, NC_000007.14:g.87535033A>C, NG_011513.1:g.183216T>C, NC_000007.13:g.87164349=, rs117937072, NC_000007.13:g.87164349A>C +PA166178404 rs117951771 PA134877725 MAST3 NC_000019.10:18129161 1 1 0 0 0 NC_000019.10:g.18129161C>A, rs117951771, NC_000019.9:g.18239971C>T, NC_000019.10:g.18129161C>T, NC_000019.10:g.18129161=, NC_000019.9:g.18239971C>A, 117951771, NC_000019.9:g.18239971= +PA166157833 rs11795343 PA134994272 RIGI NC_000009.12:32523739 1 0 0 0 0 rs17217883, NC_000009.11:g.32523737T>C, rs60273569, NC_000009.12:g.32523739T>C, NM_014314.3:c.106+2322A>G, 17217883, rs11795343, XM_005251422.1:c.-356+2322A>G, NG_046918.1:g.7586=, NC_000009.12:g.32523739=, NC_000009.11:g.32523737=, 11795343, NG_046918.1:g.7586A>G, 60273569 +PA166180928 rs117986340 PA38568 KMT2E NC_000007.14:105107452 1 1 0 0 0 117986340, NC_000007.14:g.105107452=, NG_033949.1:g.98263=, NC_000007.13:g.104747899G>T, NC_000007.13:g.104747899=, NP_891847.1:p.Gly999=, NP_891847.1:p.Gly999Cys, NC_000007.14:g.105107452G>T, NG_033949.1:g.98263G>T, rs117986340 +PA166157687 rs117996576 NC_000008.11:15477383 1 0 0 0 0 NC_000008.10:g.15334892A>G, NC_000008.11:g.15477383=, NC_000008.10:g.15334892=, NC_000008.11:g.15477383A>G, rs117996576, 117996576 +PA166184625 rs1180012 NC_000012.12:121092645 1 0 0 0 0 NC_000012.12:g.121092645T>A, rs1180012, 1180012, NC_000012.11:g.121530448T>A, NC_000012.12:g.121092645T>G, NC_000012.11:g.121530448T>G, 386521322, NC_000012.12:g.121092645T>C, NC_000012.11:g.121530448T>C, 61041368, NC_000012.11:g.121530448=, NC_000012.12:g.121092645= +PA166153834 rs11805303 PA134935109 IL23R NC_000001.11:67209833 1 0 0 0 0 XM_005270516.2:c.36+2778C>T, XM_011540789.1:c.888+2778C>T, XM_005270516.1:c.36+2778C>T, 11805303, XM_005270519.1:c.43+8936C>T, rs11805303, rs57077222, NM_144701.2:c.798+2778C>T, 57077222, XM_005270514.1:c.189+2778C>T, NG_011498.1:g.48348C>A, NC_000001.11:g.67209833C>T, XM_005270515.1:c.229+8936C>T, NC_000001.11:g.67209833=, NC_000001.10:g.67675516=, XM_005270518.1:c.36+2778C>T, NC_000001.10:g.67675516C>A, NG_011498.1:g.48348=, XM_005270513.1:c.189+2778C>T, NG_011498.1:g.48348C>T, XM_011540790.1:c.798+2778C>T, XM_011540791.1:c.798+2778C>T, NC_000001.11:g.67209833C>A, XM_005270512.1:c.189+2778C>T, XM_005270517.1:c.33+2135C>T, NC_000001.10:g.67675516C>T +PA166153835 rs11807862 PA33714 PRDM16 NC_000001.11:3362704 1 0 0 0 0 XM_005244773.1:c.439-22445T>A, NC_000001.10:g.3279268T>A, XM_011541945.1:c.-114-22448T>A, 57382713, XM_005244773.3:c.439-22445T>A, NG_029576.2:g.298527=, 11807862, NC_000001.10:g.3279268=, NM_022114.3:c.439-22448T>A, NM_199454.2:c.439-22448T>A, XM_006710814.2:c.439-22445T>A, XM_005244772.1:c.439-22445T>A, rs57382713, NC_000001.11:g.3362704=, XM_005244772.3:c.439-22445T>A, XM_005244774.1:c.439-22445T>A, XM_005244774.3:c.439-22445T>A, NG_029576.1:g.298527=, NC_000001.11:g.3362704T>A, NG_029576.1:g.298527T>A, rs11807862, XM_011541944.1:c.439-22445T>A, NG_029576.2:g.298527T>A +PA166178430 rs118088833 PA164726680 TP53AIP1 NC_000011.10:128937143 1 1 0 0 0 rs118088833, NC_000011.10:g.128937143C>T, NG_030401.1:g.11257G>A, NC_000011.10:g.128937143=, NC_000011.9:g.128807038=, 118088833, NC_000011.9:g.128807038C>T, NG_030401.1:g.11257= +PA166153836 rs11811628 PA25085 ATF3 NC_000001.11:212583051 1 0 0 0 0 NM_001030287.3:c.-5+17568G>A, rs11811628, NC_000001.10:g.212756393G>A, NG_029871.1:g.22697G>A, NC_000001.10:g.212756393=, 11811628, NC_000001.11:g.212583051=, NG_029871.1:g.22697=, 57631717, rs57631717, NC_000001.11:g.212583051G>A +PA166178412 rs118129530 PA134877725 MAST3 NC_000019.10:18120913 1 1 0 0 0 118129530, NC_000019.10:g.18120913G>A, rs118129530, NC_000019.9:g.18231723=, NC_000019.9:g.18231723G>A, NC_000019.10:g.18120913= +PA166155528 rs118192116 PA34896 RYR1 NC_000019.10:38451850 1 1 0 1 0 NC_000019.9:g.38942490C>G, 118192116, XM_011527205.1:c.1209C>G, XM_011527204.1:c.1206C>G, NC_000019.10:g.38451850C>T, NM_000540.2:c.1209C>G, NP_001036188.1:p.Ile403Met, XP_011525506.1:p.Ile402Met, XP_006723382.1:p.Ile403Met, NG_008866.1:g.23151C>G, NM_001042723.1:c.1209C>G, XP_011525507.1:p.Ile403Met, NG_008866.1:g.23151C>T, NC_000019.9:g.38942490C>T, NC_000019.10:g.38451850C>G, XM_006723319.1:c.1209C>G, NG_008866.1:g.23151=, NP_000531.2:p.Ile403=, XP_006723380.1:p.Ile403Met, XM_006723317.1:c.1209C>G, NP_000531.2:p.Ile403Met, NC_000019.9:g.38942490=, NC_000019.10:g.38451850=, rs118192116 +PA166155529 rs118192122 PA34896 RYR1 NC_000019.10:38500643 20 1 1 1 0 XP_011525506.1:p.Arg2453His, rs118192122, NM_000540.2:c.7361G>A, XP_006723380.1:p.Arg2454His, XM_006723319.1:c.7361G>A, XM_011527205.1:c.7361G>A, NG_008866.1:g.71944G>A, NM_001042723.1:c.7361G>A, NC_000019.9:g.38991283=, XM_011527204.1:c.7358G>A, NC_000019.10:g.38500643G>A, NC_000019.9:g.38991283G>A, NC_000019.10:g.38500643=, XP_011525507.1:p.Arg2454His, 118192122, NP_000531.2:p.Arg2454His, NG_008866.1:g.71944=, NP_001036188.1:p.Arg2454His, XP_006723382.1:p.Arg2454His, NP_000531.2:p.Arg2454=, XM_006723317.1:c.7361G>A +PA166155530 rs118192123 PA34896 RYR1 NC_000019.10:38500640 1 0 0 0 0 XP_011525507.1:p.Ile2453Thr, rs118192123, NC_000019.9:g.38991280T>C, NM_001042723.1:c.7358T>C, 118192123, NC_000019.9:g.38991280=, NP_001036188.1:p.Ile2453Thr, NP_000531.2:p.Ile2453=, XM_006723317.1:c.7358T>C, NG_008866.1:g.71941T>C, XP_006723382.1:p.Ile2453Thr, NP_000531.2:p.Ile2453Thr, XP_006723380.1:p.Ile2453Thr, NC_000019.10:g.38500640=, NG_008866.1:g.71941=, XP_011525506.1:p.Ile2452Thr, NM_000540.2:c.7358T>C, XM_006723319.1:c.7358T>C, XM_011527205.1:c.7358T>C, XM_011527204.1:c.7355T>C, NC_000019.10:g.38500640T>C +PA166155531 rs118192124 PA34896 RYR1 NC_000019.10:38500636 8 1 1 1 0 XM_011527204.1:c.7351C>T, NP_001036188.1:p.Arg2452Trp, NC_000019.9:g.38991276=, NM_001042723.1:c.7354C>T, XP_011525506.1:p.Arg2451Trp, NP_000531.2:p.Arg2452Trp, 118192124, NC_000019.10:g.38500636C>T, NC_000019.10:g.38500636=, XM_006723319.1:c.7354C>T, XP_011525507.1:p.Arg2452Trp, NG_008866.1:g.71937C>T, NC_000019.9:g.38991276C>T, NM_000540.2:c.7354C>T, XM_006723317.1:c.7354C>T, XM_011527205.1:c.7354C>T, NP_000531.2:p.Arg2452=, XP_006723380.1:p.Arg2452Trp, rs118192124, XP_006723382.1:p.Arg2452Trp, NG_008866.1:g.71937= +PA166155532 rs118192161 PA34896 RYR1 NC_000019.10:38444211 30 1 0 1 0 NM_001042723.1:c.487C>T, NP_000531.2:p.Arg163Cys, NC_000019.9:g.38934851C>T, XM_011527205.1:c.487C>T, rs118192161, NG_008866.1:g.15512C>T, XM_006723317.1:c.487C>T, NG_008866.1:g.15512=, XP_011525506.1:p.Arg163Cys, NM_000540.2:c.487C>T, NP_001036188.1:p.Arg163Cys, XP_011525507.1:p.Arg163Cys, NC_000019.10:g.38444211=, XM_011527204.1:c.487C>T, XP_006723382.1:p.Arg163Cys, NP_000531.2:p.Arg163=, NC_000019.10:g.38444211C>T, XM_006723319.1:c.487C>T, XP_006723380.1:p.Arg163Cys, NC_000019.9:g.38934851=, 118192161 +PA166155533 rs118192162 PA34896 RYR1 NC_000019.10:38455359 4 1 0 1 0 NG_008866.1:g.26660=, XP_006723380.1:p.Tyr522Cys, NC_000019.10:g.38455359=, NP_000531.2:p.Tyr522Ser, XM_006723317.1:c.1565A>C, NG_008866.1:g.26660A>G, NP_000531.2:p.Tyr522=, NC_000019.9:g.38945999A>G, NG_008866.1:g.26660A>C, NM_000540.2:c.1565A>G, XM_011527204.1:c.1562A>C, XM_006723317.1:c.1565A>G, NM_000540.2:c.1565A>C, NP_001036188.1:p.Tyr522Cys, XM_006723319.1:c.1565A>G, NM_001042723.1:c.1565A>C, XP_011525506.1:p.Tyr521Cys, XM_006723319.1:c.1565A>C, XP_006723382.1:p.Tyr522Ser, 118192162, XM_011527204.1:c.1562A>G, XP_011525507.1:p.Tyr522Cys, XP_006723380.1:p.Tyr522Ser, XP_011525507.1:p.Tyr522Ser, NM_001042723.1:c.1565A>G, XP_011525506.1:p.Tyr521Ser, rs118192162, NP_000531.2:p.Tyr522Cys, NP_001036188.1:p.Tyr522Ser, XM_011527205.1:c.1565A>G, NC_000019.9:g.38945999A>C, NC_000019.10:g.38455359A>C, XM_011527205.1:c.1565A>C, NC_000019.9:g.38945999=, NC_000019.10:g.38455359A>G, XP_006723382.1:p.Tyr522Cys +PA166155534 rs118192163 PA34896 RYR1 NC_000019.10:38494565 12 1 1 1 0 NC_000019.10:g.38494565=, XP_011525507.1:p.Arg2163Pro, NM_001042723.1:c.6488G>C, NC_000019.9:g.38985205=, NM_001042723.1:c.6488G>A, XP_006723380.1:p.Arg2163His, NP_000531.2:p.Arg2163His, XP_006723382.1:p.Arg2163His, rs28933999, XP_011525506.1:p.Arg2162His, NP_000531.2:p.Arg2163=, 118192163, NC_000019.10:g.38494565G>T, NP_000531.2:p.Arg2163Leu, NG_008866.1:g.65866G>A, NG_008866.1:g.65866G>C, 28933999, rs118192163, NC_000019.10:g.38494565G>C, NP_000531.2:p.Arg2163Pro, NC_000019.10:g.38494565G>A, NP_001036188.1:p.Arg2163Pro, XP_006723382.1:p.Arg2163Pro, NG_008866.1:g.65866=, XM_006723319.1:c.6488G>A, XM_011527204.1:c.6485G>C, XM_011527205.1:c.6488G>A, NC_000019.9:g.38985205G>T, XP_011525507.1:p.Arg2163His, XM_006723319.1:c.6488G>C, XM_011527205.1:c.6488G>C, NM_000540.2:c.6488G>C, NP_001036188.1:p.Arg2163His, XP_011525506.1:p.Arg2162Pro, NM_000540.2:c.6488G>A, XP_006723380.1:p.Arg2163Pro, XM_011527204.1:c.6485G>A, NG_008866.1:g.65866G>T, XM_006723317.1:c.6488G>C, XM_006723317.1:c.6488G>A, NC_000019.9:g.38985205G>C, NC_000019.9:g.38985205G>A +PA166155535 rs118192167 PA34896 RYR1 NC_000019.10:38580004 4 1 0 1 0 NM_001042723.1:c.14372A>G, rs118192167, XP_011525507.1:p.Tyr4767Cys, XM_006723317.1:c.14369A>G, XP_006723380.1:p.Tyr4790Cys, XP_006723382.1:p.Tyr4785Cys, 118192167, NP_000531.2:p.Tyr4796=, NC_000019.10:g.38580004=, NC_000019.9:g.39070644=, XP_011525506.1:p.Tyr4795Cys, NG_008866.1:g.151305A>G, XM_011527205.1:c.14300A>G, XM_006723319.1:c.14354A>G, NC_000019.9:g.39070644A>G, NG_008866.1:g.151305=, NC_000019.10:g.38580004A>G, NP_001036188.1:p.Tyr4791Cys, NP_000531.2:p.Tyr4796Cys, NM_000540.2:c.14387A>G, XM_011527204.1:c.14384A>G +PA166163669 rs118192168 PA34896 RYR1 NC_000019.10:38580403 14 1 1 1 0 NG_008866.1:g.151704G>A, NC_000019.10:g.38580403G>A, 118192168, NG_008866.1:g.151704=, NP_000531.2:p.Val4849Ile, NC_000019.9:g.39071043G>A, NC_000019.9:g.39071043=, NP_000531.2:p.Val4849=, rs118192168, NC_000019.10:g.38580403= +PA166155536 rs118192170 PA34896 RYR1 NC_000019.10:38584989 3 1 0 1 0 XP_006723380.1:p.Ile4892Thr, XP_006723382.1:p.Ile4887Thr, XM_011527204.1:c.14690T>C, NM_001042723.1:c.14678T>C, NC_000019.10:g.38584989T>A, NG_008866.1:g.156290=, rs118192170, NP_001036188.1:p.Ile4893Thr, XM_006723317.1:c.14675T>C, NC_000019.10:g.38584989T>C, XP_011525506.1:p.Ile4897Thr, NC_000019.9:g.39075629T>A, NG_008866.1:g.156290T>A, NG_008866.1:g.156290T>C, NP_000531.2:p.Ile4898=, NM_000540.2:c.14693T>C, XP_011525507.1:p.Ile4869Thr, NC_000019.10:g.38584989=, NC_000019.9:g.39075629=, NC_000019.9:g.39075629T>C, NP_000531.2:p.Ile4898Thr, XM_011527205.1:c.14606T>C, NP_000531.2:p.Ile4898Asn, XM_006723319.1:c.14660T>C, 118192170 +PA166155537 rs118192172 PA34896 RYR1 NC_000019.10:38457545 56 2 1 1 0 NM_000540.2:c.1840C>T, rs118192172, XM_011527204.1:c.1837C>T, NP_000531.2:p.Arg614=, rs28933996, NP_000531.2:p.Arg614Cys, NC_000019.9:g.38948185C>T, NC_000019.9:g.38948185C>G, 28933996, NC_000019.10:g.38457545C>T, NG_008866.1:g.28846=, NG_008866.1:g.28846C>T, XM_006723317.1:c.1840C>T, NM_001042723.1:c.1840C>T, NC_000019.10:g.38457545C>G, NG_008866.1:g.28846C>G, XP_006723382.1:p.Arg614Cys, XP_011525507.1:p.Arg614Cys, XP_006723380.1:p.Arg614Cys, XM_006723319.1:c.1840C>T, XM_011527205.1:c.1840C>T, XP_011525506.1:p.Arg613Cys, NP_000531.2:p.Arg614Gly, NC_000019.9:g.38948185=, NC_000019.10:g.38457545=, NP_001036188.1:p.Arg614Cys, 118192172 +PA166155538 rs118192175 PA34896 RYR1 NC_000019.10:38494564 4 1 0 1 0 rs118192175, NC_000019.10:g.38494564=, NM_000540.2:c.6487C>T, XP_006723380.1:p.Arg2163Cys, XM_011527204.1:c.6484C>T, XP_011525506.1:p.Arg2162Cys, 28933998, XM_006723317.1:c.6487C>T, NC_000019.9:g.38985204=, NG_008866.1:g.65865=, NC_000019.9:g.38985204C>T, NG_008866.1:g.65865C>T, rs28933998, XP_011525507.1:p.Arg2163Cys, NP_000531.2:p.Arg2163=, NP_000531.2:p.Arg2163Cys, XM_006723319.1:c.6487C>T, 118192175, NM_001042723.1:c.6487C>T, NC_000019.10:g.38494564C>T, NP_001036188.1:p.Arg2163Cys, XP_006723382.1:p.Arg2163Cys, XM_011527205.1:c.6487C>T +PA166155539 rs118192176 PA34896 RYR1 NC_000019.10:38494579 24 1 1 1 0 rs118192176, XM_011527204.1:c.6499G>A, XM_006723319.1:c.6502G>A, NC_000019.10:g.38494579=, NP_000531.2:p.Val2168Met, NP_001036188.1:p.Val2168Met, XM_011527205.1:c.6502G>A, XP_006723382.1:p.Val2168Met, NM_000540.2:c.6502G>A, NC_000019.9:g.38985219=, XP_011525507.1:p.Val2168Met, NC_000019.10:g.38494579G>A, NM_001042723.1:c.6502G>A, XP_006723380.1:p.Val2168Met, NP_000531.2:p.Val2168=, NC_000019.9:g.38985219G>A, NG_008866.1:g.65880G>A, XP_011525506.1:p.Val2167Met, NG_008866.1:g.65880=, 118192176, XM_006723317.1:c.6502G>A +PA166155540 rs118192177 PA34896 RYR1 NC_000019.10:38496283 25 1 1 1 0 XM_011527205.1:c.6617C>G, rs118192177, NG_008866.1:g.67584C>G, XM_006723317.1:c.6617C>G, XM_006723319.1:c.6617C>G, NM_001042723.1:c.6617C>G, XM_006723317.1:c.6617C>T, XP_011525506.1:p.Thr2205Met, NG_008866.1:g.67584=, NC_000019.9:g.38986923C>G, NP_001036188.1:p.Thr2206Met, XM_011527205.1:c.6617C>T, XP_006723380.1:p.Thr2206Arg, XP_006723380.1:p.Thr2206Met, NC_000019.9:g.38986923=, NC_000019.9:g.38986923C>T, XP_011525507.1:p.Thr2206Met, NC_000019.10:g.38496283=, NP_001036188.1:p.Thr2206Arg, 28934000, XP_011525507.1:p.Thr2206Arg, NM_000540.2:c.6617C>G, rs28934000, XM_011527204.1:c.6614C>G, NC_000019.10:g.38496283C>T, NP_000531.2:p.Thr2206=, NG_008866.1:g.67584C>T, XM_011527204.1:c.6614C>T, XP_011525506.1:p.Thr2205Arg, NM_000540.2:c.6617C>T, XP_006723382.1:p.Thr2206Arg, NP_000531.2:p.Thr2206Met, 118192177, NM_001042723.1:c.6617C>T, NC_000019.10:g.38496283C>G, XM_006723319.1:c.6617C>T, NP_000531.2:p.Thr2206Arg, XP_006723382.1:p.Thr2206Met +PA166155541 rs118192178 PA34896 RYR1 NC_000019.10:38500898 11 2 1 1 0 NP_000531.2:p.Arg2508Gly, rs118192178, XM_006723319.1:c.7522C>G, NP_001036188.1:p.Arg2508Gly, XM_011527204.1:c.7519C>T, XP_006723382.1:p.Arg2508Gly, 118192178, NG_008866.1:g.72199=, NC_000019.9:g.38991538C>G, XM_006723317.1:c.7522C>G, XM_011527205.1:c.7522C>G, NP_001036188.1:p.Arg2508Cys, XP_006723382.1:p.Arg2508Cys, NC_000019.10:g.38500898C>T, XM_011527204.1:c.7519C>G, XP_006723380.1:p.Arg2508Cys, NC_000019.10:g.38500898=, XP_011525506.1:p.Arg2507Cys, NP_000531.2:p.Arg2508Cys, XM_011527205.1:c.7522C>T, XP_006723380.1:p.Arg2508Gly, XP_011525507.1:p.Arg2508Gly, XP_011525507.1:p.Arg2508Cys, NM_001042723.1:c.7522C>T, XP_011525506.1:p.Arg2507Gly, NG_008866.1:g.72199C>T, NM_000540.2:c.7522C>G, XM_006723319.1:c.7522C>T, XM_006723317.1:c.7522C>T, NM_001042723.1:c.7522C>G, NC_000019.9:g.38991538C>T, NP_000531.2:p.Arg2508=, NM_000540.2:c.7522C>T, NC_000019.9:g.38991538=, NC_000019.10:g.38500898C>G, NG_008866.1:g.72199C>G +PA166154143 rs11819745 PA36507 THRA NC_000010.11:37501484 1 1 0 0 0 rs11819745, NC_000010.10:g.37790412G>T, NC_000010.10:g.37790412=, NC_000010.11:g.37501484=, NC_000010.11:g.37501484G>A, NC_000010.10:g.37790412G>A, NC_000010.11:g.37501484G>T, 11819745 +PA166154208 rs118203756 PA124 CYP2C19 NC_000010.11:94775160 18 3 3 0 0 NM_000769.2:c.271G>C, NC_000010.10:g.96534917G>C, 118203756, rs118203756, NP_000760.1:p.Gly91Arg, NC_000010.10:g.96534917=, NC_000010.11:g.94775160=, NM_000769.1:c.271G>C, NP_000760.1:p.Gly91=, NG_008384.3:g.17480=, NC_000010.11:g.94775160G>C, NG_008384.2:g.17455G>C, NG_008384.3:g.17480G>C +PA166154209 rs118203757 PA124 CYP2C19 NC_000010.11:94842879 3 2 2 0 0 NG_008384.2:g.85174G>A, 118203757, rs118203757, NP_000760.1:p.Arg335Gln, NM_000769.1:c.1004G>A, NC_000010.10:g.96602636G>A, NM_000769.2:c.1004G>A, NP_000760.1:p.Arg335=, NC_000010.10:g.96602636=, NC_000010.11:g.94842879G>A, NC_000010.11:g.94842879=, NG_008384.3:g.85199=, NG_008384.3:g.85199G>A +PA166156203 rs118203758 PA128 CYP2D6 NC_000022.11:42130667 3 2 2 0 0 NG_008376.4:g.5144G>A, NP_000097.3:p.Gly42=, XR_952745.1:n.1282G>A, XM_011529972.1:c.125G>A, 118203758, NG_008376.3:g.4325=, NC_000022.11:g.42130667C>T, XP_011528272.1:p.Gly42Glu, XM_011529966.1:c.125G>A, XP_005278410.1:p.Gly42Glu, XM_011529971.1:c.37+630G>A, NC_000022.10:g.42526669=, XM_011547756.1:c.42+444C>T, XP_011528274.1:p.Gly42Glu, NC_000022.11:g.42130667=, rs118203758, NW_009646208.1:g.16233C>T, XM_005278354.1:c.-1429G>A, NM_000106.5:c.125G>A, XM_011529968.1:c.125G>A, XR_952536.1:n.-1776C>T, XR_430455.2:n.307C>T, XM_011548819.1:c.-1429G>A, XM_011529969.1:c.37+630G>A, XM_011547751.1:c.-1089G>A, XP_011528269.1:p.Gly42Glu, XP_011528268.1:p.Gly42Glu, XM_011529970.1:c.125G>A, NG_008376.4:g.5144=, NM_001025161.2:c.125G>A, XR_952537.1:n.-1776C>T, NP_001020332.2:p.Gly42Glu, XM_011547750.1:c.37+630G>A, XR_952538.1:n.-1776C>T, XM_011547541.1:c.-1429G>A, NC_000022.10:g.42526669C>T, NW_004504305.1:g.52994C>T, NT_187682.1:g.53008C>T, XM_005278354.3:c.-1429G>A, NG_008376.3:g.4325G>A, XM_011529967.1:c.125G>A, NP_000097.3:p.Gly42Glu, XP_011528270.1:p.Gly42Glu, XR_952539.1:n.-1487C>T, XM_005278353.1:c.125G>A +PA166154210 rs118203759 PA124 CYP2C19 NC_000010.11:94852785 4 2 2 0 0 118203759, NG_008384.3:g.95105C>A, NC_000010.10:g.96612542C>G, NC_000010.10:g.96612542C>A, NM_000769.1:c.1344C>G, NM_000769.2:c.1344C>G, rs118203759, NG_008384.3:g.95105=, NP_000760.1:p.Phe448Leu, NG_008384.2:g.95080C>G, NC_000010.11:g.94852785=, NC_000010.10:g.96612542=, NP_000760.1:p.Phe448=, NC_000010.11:g.94852785C>G, NG_008384.3:g.95105C>G, NC_000010.11:g.94852785C>A +PA166317661 rs118204085 PA33352 PKLR NC_000001.11:155293177 0 0 0 0 1 NC_000001.10:g.155262968C>T, NG_011677.1:g.13258G>A, NG_011677.1:g.13258=, NP_000289.1:p.Arg479His, 118204085, NC_000001.11:g.155293177=, NG_011677.1:g.13258G>T, NC_000001.10:g.155262968=, NP_000289.1:p.Arg479Leu, NC_000001.11:g.155293177C>A, NP_000289.1:p.Arg479=, rs118204085, NC_000001.11:g.155293177C>T, NC_000001.10:g.155262968C>A +PA166155542 rs118204423 PA34896 RYR1 NC_000019.10:38457539 2 1 0 0 0 rs118204423, XP_006723380.1:p.Ala612Pro, 118204423, NM_000540.2:c.1834G>C, XP_006723382.1:p.Ala612Pro, NC_000019.9:g.38948179=, XM_011527204.1:c.1831G>C, XP_011525507.1:p.Ala612Pro, XM_006723319.1:c.1834G>C, XP_011525506.1:p.Ala611Pro, NP_000531.2:p.Ala612Pro, NC_000019.10:g.38457539G>C, NG_008866.1:g.28840=, NG_008866.1:g.28840G>C, NG_008866.1:g.28840G>A, NC_000019.10:g.38457539G>A, NM_001042723.1:c.1834G>C, XM_011527205.1:c.1834G>C, NC_000019.10:g.38457539=, NP_000531.2:p.Ala612Thr, NC_000019.9:g.38948179G>C, XM_006723317.1:c.1834G>C, NP_001036188.1:p.Ala612Pro, NC_000019.9:g.38948179G>A, NP_000531.2:p.Ala612= +PA166177005 rs1183201 PA35820 SLC17A1 NC_000006.12:25823216 1 0 0 0 0 1183201, 1780991, NC_000006.11:g.25823444A>C, NC_000006.12:g.25823216A>C, rs1183201, NC_000006.11:g.25823444A>G, 2762351, NC_000006.12:g.25823216A>G, NC_000006.11:g.25823444A>T, 4712974, NC_000006.12:g.25823216=, NC_000006.12:g.25823216A>T, NC_000006.11:g.25823444= +PA166179510 rs1184321568 PA145 DPYD NC_000001.11:97593254 1 1 0 0 0 NG_008807.2:g.332809del, NC_000001.11:g.97593254del, NC_000001.11:g.97593251_97593254=, NP_000101.2:p.Gly366fs, rs1184321568, NC_000001.10:g.98058810del, 1184321568, NP_000101.2:p.Arg364_Lys365=, NC_000001.10:g.98058807_98058810=, NG_008807.2:g.332806_332809= +PA166154825 rs11849538 PA36400 TCL1A NC_000014.9:95709641 7 1 0 0 0 NM_021966.2:c.*921+326G>C, NM_001098725.1:c.*916+326G>C, NR_049726.1:n.1620+326G>C, NC_000014.9:g.95709641C>G, NC_000014.8:g.96175978=, NC_000014.9:g.95709641=, NC_000014.8:g.96175978C>T, 11849538, NM_021966.2:c.*1247G>C, NM_001098725.1:c.*1242G>C, NR_049726.1:n.1946G>C, NC_000014.8:g.96175978C>G, rs11849538, NC_000014.9:g.95709641C>T +PA166154933 rs11853372 PA387 SLC28A1 NC_000015.10:84913115 2 0 0 0 0 XM_011522207.1:c.795+4320T>G, XR_931945.1:n.1001+4320T>G, NC_000015.10:g.84913115=, XM_005254989.1:c.795+4320T>G, XM_005254990.1:c.795+4320T>G, NC_000015.10:g.84913115T>G, XM_011522214.1:c.795+4320T>G, XM_005254993.1:c.718-5409T>G, XM_011522216.1:c.561+4320T>G, NC_000015.10:g.84913115T>C, XM_011522217.1:c.795+4320T>G, XM_005254991.1:c.795+4320T>G, XM_011522213.1:c.795+4320T>G, NC_000015.9:g.85456346T>G, NM_004213.4:c.795+4320T>G, XM_011522210.1:c.795+4320T>G, XR_931944.1:n.1001+4320T>G, NC_000015.9:g.85456346=, NC_000015.9:g.85456346T>C, XM_011522208.1:c.768+4320T>G, NC_000015.9:g.85456346T>A, XM_011522204.1:c.795+4320T>G, rs58685299, XM_005254992.1:c.768+4320T>G, XM_011522215.1:c.795+4320T>G, XM_011522203.1:c.795+4320T>G, 11853372, XM_011522206.1:c.795+4320T>G, XM_011522211.1:c.561+4320T>G, rs56464354, 58685299, XM_005254988.1:c.795+4320T>G, NM_001287761.1:c.795+4320T>G, XM_011522205.1:c.795+4320T>G, NC_000015.10:g.84913115T>A, rs11853372, XM_005254994.1:c.561+4320T>G, NM_001287762.1:c.795+4320T>G, XM_011522212.1:c.795+4320T>G, XM_011522209.1:c.718-5409T>G, XM_011522218.1:c.795+4320T>G, XM_005254995.1:c.795+4320T>G, 56464354 +PA166154934 rs11854484 PA386 SLC28A2 NC_000015.10:45253280 5 3 0 0 0 XM_011522201.1:c.65C>T, rs61637002, rs52805892, NC_000015.9:g.45545478C>T, NM_004212.3:c.65C>T, 61637002, XP_011520503.1:p.Pro22Leu, XP_011520501.1:p.Pro22Leu, XP_011520500.1:p.Pro22Leu, NR_120335.1:n.180+586G>A, XP_011520502.1:p.Pro22Leu, XM_011522200.1:c.65C>T, rs17215661, NC_000015.10:g.45253280C>T, 11854484, XM_011522198.1:c.65C>T, rs17525501, NP_004203.2:p.Pro22=, 17215661, 52805892, NC_000015.9:g.45545478=, rs11854484, XR_243147.1:n.270+501G>A, NC_000015.10:g.45253280=, XM_011522199.1:c.65C>T, 17525501, NP_004203.2:p.Pro22Leu +PA166186262 rs11859453 PA26287 CDH13 NC_000016.10:83590073 1 0 0 0 0 rs11859453, NG_052819.1:g.968280G>C, 11859453, 17759362, NC_000016.10:g.83590073=, NG_052819.1:g.968280=, NG_052819.1:g.968280G>A, 60744171, NC_000016.10:g.83590073G>A, NC_000016.9:g.83623678G>C, NC_000016.9:g.83623678=, NC_000016.10:g.83590073G>C, NC_000016.9:g.83623678G>A +PA166155108 rs11861115 PA244 ABCC1 NC_000016.10:16105813 1 0 0 0 0 NT_187607.1:g.1763672A=, NC_000016.10:g.16105813G=, 11861115, XM_005255328.1:c.2598-925G>A, NC_000016.9:g.16199670=, NG_028268.1:g.161237G=, XM_011522498.1:c.2643-925A>G, XM_011522498.1:c.2643-925G>A, NC_000016.9:g.16199670G>A, NT_187607.1:g.1763672A>G, NG_028268.1:g.161237=, NM_004996.3:c.2736-925A>G, NM_004996.3:c.2736-925G>A, XM_005255327.1:c.2610-925G>A, XM_011522497.1:c.2712-925A>G, XM_011522497.1:c.2712-925G>A, NC_000016.10:g.16105813G>A, NG_028268.2:g.161237=, XM_005255326.1:c.2766-925G>A, XM_005255329.1:c.2559-925G>A, NG_028268.2:g.161237G>A, NG_028268.1:g.161237G>A, NC_000016.10:g.16105813=, rs11861115 +PA166163244 rs11861118 PA134906523 CES1P1 NC_000016.10:55759367 1 1 0 0 0 NC_000016.10:g.55759367=, NC_000016.9:g.55793279A>C, NC_000016.10:g.55759367A>G, NC_000016.10:g.55759367A>C, rs11861118, NC_000016.9:g.55793279=, NC_000016.9:g.55793279A>G, 11861118 +PA166155109 rs11861379 PA24393 ABCC11 NC_000016.10:48234407 1 0 0 0 0 XM_005256210.1:c.-19+725A>G, 59162369, NM_145186.2:c.-19+725A>G, NG_011522.1:g.5771=, NC_000016.10:g.48234407T>C, 11861379, NC_000016.9:g.48268318=, rs59162369, NC_000016.9:g.48268318T>C, XM_005256208.1:c.-19+725A>G, NG_011522.1:g.5771A>G, NM_032583.3:c.-19+725A>G, XM_005256209.1:c.-18-2468A>G, NC_000016.10:g.48234407=, rs11861379, XR_243432.1:n.88-2468A>G +PA166155110 rs11866002 PA26672 CNOT1 NC_000016.10:58553833 1 0 0 0 0 XR_243400.1:n.3197G>A, XM_005255847.1:c.2916G>A, XP_005255907.1:p.Gln973=, XP_005255908.1:p.Gln973=, NC_000016.9:g.58587737C>T, NP_001252541.1:p.Gln968=, XP_005255903.1:p.Gln973=, rs59053850, 11866002, XP_005255902.1:p.Gln973=, XM_005255848.1:c.2904G>A, NP_057368.3:p.Gln973=, XM_005255850.1:c.2919G>A, XM_005255851.1:c.2919G>A, NM_206999.2:c.2919G>A, NC_000016.9:g.58587737C>G, rs11866002, 59053850, NM_001265612.1:c.2904G>A, XP_005255906.1:p.Gln972=, NP_057368.3:p.Gln973His, NM_016284.4:c.2919G>A, XM_005255849.1:c.2916G>A, XM_005255846.1:c.2919G>A, NP_996882.1:p.Gln973=, NC_000016.10:g.58553833C>G, NC_000016.10:g.58553833C>T, NC_000016.9:g.58587737=, NC_000016.10:g.58553833=, XP_005255904.1:p.Gln972=, XP_005255905.1:p.Gln968=, NR_049763.1:n.3237G>A, XM_005255845.1:c.2919G>A +PA166157291 rs1186745 PA267 ABCB1 NC_000007.14:87504631 1 0 0 0 0 rs1186745, rs3789247, 1186745, NM_000927.4:c.3637-182G>T, NC_000007.14:g.87504631C>A, rs4148754, 4148754, NG_011513.1:g.213618=, NC_000007.14:g.87504631=, NC_000007.13:g.87133947=, NG_011513.1:g.213618G>T, 3789247, NC_000007.13:g.87133947C>A +PA166157292 rs1186746 PA267 ABCB1 NC_000007.14:87504677 1 0 0 0 0 1186746, rs1186746, NG_011513.1:g.213572A>T, rs4148753, 4148753, NC_000007.14:g.87504677=, NG_011513.1:g.213572A>G, NM_000927.4:c.3637-228A>G, NC_000007.14:g.87504677T>A, NC_000007.13:g.87133993=, NG_011513.1:g.213572=, NC_000007.13:g.87133993T>C, NC_000007.14:g.87504677T>C, NC_000007.13:g.87133993T>A +PA166195103 rs11867549 PA238 MAPT NC_000017.11:45935869 1 0 0 0 0 61116971, NC_000017.10:g.44013235A>G, NG_007398.1:g.46441=, NG_007398.2:g.46407=, NC_000017.11:g.45935869=, NC_000017.11:g.45935869A>G, NC_000017.10:g.44013235=, 11867549, NG_007398.2:g.46407A>G, rs11867549, NG_007398.1:g.46441A>G, 117736665 +PA166155247 rs11868035 PA34188,PA335 RAI1,SREBF1 NC_000017.11:17811787 1 1 0 0 0 XM_005256773.1:c.*835C>T, 13306740, XR_429821.2:n.4294-3C>T, NG_007101.2:g.135315=, NG_029029.1:g.30225C>T, NG_007101.2:g.135315G>A, rs11868035, XM_005256774.1:c.*835C>T, NM_004176.4:c.*835C>T, NC_000017.10:g.17715101G>A, XM_005256772.3:c.*835C>T, rs60796536, NM_001005291.2:c.*835C>T, rs13306740, XM_005256772.1:c.*835C>T, NG_029029.1:g.30225=, XM_011523998.1:c.*835C>T, XM_011523999.1:c.*835C>T, NC_000017.10:g.17715101=, XM_006721570.2:c.*835C>T, NM_030665.3:c.*1806G>A, NC_000017.11:g.17811787G>A, 11868035, NC_000017.11:g.17811787=, 60796536 +PA166163842 rs11868513 PA162391083 HNF1B NC_000017.11:37692682 1 0 0 0 0 11868513, 59043526, rs11868513, 60567965, NC_000017.11:g.37692682G>A, NC_000017.10:g.36052692=, NG_013019.2:g.57425=, NC_000017.11:g.37692682=, NC_000017.10:g.36052692G>A, NG_013019.2:g.57425C>T +PA166155248 rs11868547 PA25196 AXIN2 NC_000017.11:65527485 1 1 0 0 0 rs11868547, rs56601766, NC_000017.10:g.63523603=, NC_000017.10:g.63523603G>A, NC_000017.11:g.65527485G>C, NC_000017.11:g.65527485G>A, NG_012142.1:g.39138C>T, 56601766, NC_000017.10:g.63523603G>C, NG_012142.1:g.39138=, NC_000017.11:g.65527485=, NC_000017.11:g.65527485G>T, 11868547, NG_012142.1:g.39138C>G, NC_000017.10:g.63523603G>T, NG_012142.1:g.39138C>A +PA166155249 rs11869731 PA24433 ASIC2 NC_000017.11:34011852 1 1 0 0 0 NG_029763.1:g.149955=, rs58405746, rs56639101, NC_000017.11:g.34011852G>A, NC_000017.11:g.34011852G>C, 56639101, NG_029763.1:g.149955C>T, NM_001094.4:c.555+144126C>G, NC_000017.10:g.32338871G>T, 11869731, NC_000017.11:g.34011852=, 58405746, NG_029763.1:g.149955C>A, NC_000017.10:g.32338871=, rs11869731, NC_000017.10:g.32338871G>C, NC_000017.11:g.34011852G>T, NG_029763.1:g.149955C>G, NC_000017.10:g.32338871G>A +PA166153966 rs1187075 PA29953 ITGB1 NC_000010.11:32957868 1 0 0 0 0 NC_000010.11:g.32957868A>T, NC_000010.11:g.32957868=, NC_000010.10:g.33246796A>T, NC_000010.11:g.32957868A>G, NM_133376.2:c.-110T>C, XM_005252448.1:c.-1+277T>C, NG_029012.1:g.5498=, rs1187075, NC_000010.10:g.33246796=, 1187075, NC_000010.10:g.33246796A>G, NG_029012.1:g.5498T>A, NG_029012.1:g.5498T>C, NM_002211.3:c.-1+277T>C +PA166162487 rs11871251 PA205 ITGB3 NC_000017.11:47254061 1 0 0 0 0 NC_000017.11:g.47254061=, 11871251, rs11871251, NG_008332.2:g.5220G>C, 60340883, NC_000017.11:g.47254061G>A, NC_000017.11:g.47254061G>C, NC_000017.10:g.45331427G>A, NC_000017.10:g.45331427=, NC_000017.10:g.45331427G>C, NG_008332.2:g.5220=, NG_008332.2:g.5220G>A +PA166161267 rs1187286 PA31818 NTRK2 NC_000009.12:84800113 1 0 0 0 0 386521727, NC_000009.12:g.84800113G>A, NG_012201.2:g.136563G>C, NC_000009.12:g.84800113G>T, NC_000009.11:g.87415028G>T, NG_012201.2:g.136563G>A, 1187286, rs1187286, 57154894, NG_012201.2:g.136563=, NC_000009.11:g.87415028G>A, NG_012201.2:g.136563G>T, NC_000009.12:g.84800113G>C, NC_000009.11:g.87415028=, NC_000009.11:g.87415028G>C, 1778943, NC_000009.12:g.84800113= +PA166155319 rs11872992 PA30676 MC4R NC_000018.10:60373354 2 2 0 0 0 rs60275201, 60275201, NG_016441.1:g.4415=, NG_016441.1:g.4415C>T, 11872992, NC_000018.9:g.58040587G>A, NC_000018.10:g.60373354=, NC_000018.10:g.60373354G>A, rs11872992, NM_005912.2:c.-1005C>T, NC_000018.9:g.58040587= +PA166157722 rs1187326 PA31818 NTRK2 NC_000009.12:84671000 1 0 0 0 0 XM_005252004.1:c.212+40C>T, NG_012201.2:g.7450=, NC_000009.11:g.87285915C>G, rs57320659, XM_005252002.1:c.212+40C>T, NM_006180.4:c.212+40C>T, XM_005252001.1:c.212+40C>T, NM_001018064.2:c.212+40C>T, 57320659, NM_001018066.2:c.212+40C>T, XM_005252006.2:c.212+40C>T, NG_012201.2:g.7450C>G, XM_005252006.1:c.212+40C>T, NC_000009.11:g.87285915=, NC_000009.12:g.84671000C>G, 1187326, NM_001007097.2:c.212+40C>T, NG_012201.2:g.7450C>T, rs1187326, XM_005252003.1:c.212+40C>T, XM_011518718.1:c.212+40C>T, NM_001291937.1:c.212+40C>T, NC_000009.12:g.84671000=, XM_011518719.1:c.212+40C>T, NC_000009.12:g.84671000C>T, XM_005252007.1:c.212+40C>T, XM_011518720.1:c.212+40C>T, NM_001018065.2:c.212+40C>T, NC_000009.11:g.87285915C>T, XM_005252005.1:c.212+40C>T, 1778956, XM_005252007.2:c.212+40C>T, rs1778956 +PA166157723 rs1187327 PA31818 NTRK2 NC_000009.12:84673625 1 0 0 0 0 XM_005252007.2:c.212+2665T>C, XM_005252006.1:c.212+2665T>C, XM_005252003.1:c.212+2665T>C, NM_001018065.2:c.212+2665T>C, NM_001291937.1:c.212+2665T>C, NG_012201.2:g.10075=, XM_011518719.1:c.212+2665T>C, NC_000009.12:g.84673625T>C, NM_006180.4:c.212+2665T>C, rs61636165, 1187327, NC_000009.12:g.84673625=, rs1187327, NM_001007097.2:c.212+2665T>C, XM_005252006.2:c.212+2665T>C, XM_011518718.1:c.212+2665T>C, XM_011518720.1:c.212+2665T>C, 61636165, NC_000009.11:g.87288540=, NM_001018064.2:c.212+2665T>C, XM_005252002.1:c.212+2665T>C, XM_005252005.1:c.212+2665T>C, NG_012201.2:g.10075T>C, XM_005252001.1:c.212+2665T>C, NC_000009.11:g.87288540T>C, NG_012201.2:g.10075T>A, XM_005252004.1:c.212+2665T>C, NC_000009.11:g.87288540T>A, NM_001018066.2:c.212+2665T>C, XM_005252007.1:c.212+2665T>C, NC_000009.12:g.84673625T>A +PA166163343 rs1187352 PA31818 NTRK2 NC_000009.12:84678542 1 0 0 0 0 NG_012201.2:g.14992T>A, NG_012201.2:g.14992T>C, 1778962, NC_000009.12:g.84678542T>C, 1187352, NC_000009.12:g.84678542T>A, NC_000009.11:g.87293457=, NC_000009.11:g.87293457T>A, rs1187352, NC_000009.11:g.87293457T>C, 2006354, NC_000009.12:g.84678542=, NG_012201.2:g.14992=, 57061837 +PA166186021 rs1187513719 PA124 CYP2C19 NC_000010.11:94780595 2 1 0 0 0 NC_000010.11:g.94780595A>G, NC_000010.11:g.94780595=, NG_008384.3:g.22915A>G, NP_000760.1:p.Gln193Arg, NC_000010.10:g.96540352A>G, rs1187513719, NG_008384.3:g.22915=, 1187513719, NP_000760.1:p.Gln193=, NC_000010.10:g.96540352= +PA166155320 rs11877530 PA36601 TNFRSF11A NC_000018.10:62348702 2 0 0 0 0 NM_001270951.1:c.157+453G>A, 11877530, 60739673, NC_000018.9:g.60015935G>A, rs386440553, NC_000018.9:g.60015935=, NM_003839.2:c.157+453G>A, rs60739673, XM_011526244.1:c.157+453G>A, NM_001270949.1:c.157+453G>A, XM_005266777.1:c.157+453G>A, NG_008098.1:g.28388=, XR_935263.1:n.172+453G>A, NG_008098.1:g.28388G>A, NM_001278268.1:c.157+453G>A, NC_000018.10:g.62348702=, rs11877530, NM_003839.3:c.157+453G>A, 386440553, NC_000018.10:g.62348702G>A, XM_011526245.1:c.39+453G>A, NM_001270950.1:c.157+453G>A +PA166155462 rs11881222 PA134952671 IFNL3 NC_000019.10:39244283 4 1 0 0 0 NM_172139.2:c.259-126T>C, 11881222, rs11881222, XM_011526757.1:c.271-126T>C, NC_000019.9:g.39734923=, XM_005258765.3:c.271-126T>C, NG_042193.1:g.5689=, NG_042193.1:g.5689T>C, NC_000019.10:g.39244283=, NC_000019.10:g.39244283A>G, XM_005258765.1:c.271-126T>C, NC_000019.9:g.39734923A>G +PA166206605 rs11882256 PA31314 MUC16 NC_000019.10:8949865 1 1 0 0 0 NG_055257.1:g.65526G>A, NC_000019.10:g.8949865C>T, NG_055257.1:g.65526=, 11882256, NC_000019.9:g.9060541C>T, NC_000019.9:g.9060541=, 118015096, NP_078966.2:p.Val8969Met, 52832468, NP_078966.2:p.Val8969=, 59005440, rs11882256, NC_000019.10:g.8949865= +PA166247281 rs11882424 PA123 CYP2B6 NC_000019.10:41010817 1 0 0 0 0 11882424, NG_007929.1:g.24519T>C, NC_000019.9:g.41516722=, NC_000019.10:g.41010817T>C, NG_007929.1:g.24519=, NC_000019.9:g.41516722T>C, rs11882424, NC_000019.10:g.41010817= +PA166155810 rs11887534 PA24411,PA24412 ABCG5,ABCG8 NC_000002.12:43839108 5 1 0 0 0 NC_000002.11:g.44066247G>A, NG_008884.2:g.12167=, XM_011533030.1:c.76-5399G>C, XM_006712073.2:c.-429C>G, NG_008883.1:g.4712C>G, XM_011533024.1:c.-429C>G, NC_000002.12:g.43839108G>C, XP_005264540.1:p.Asp19His, NC_000002.12:g.43839108G>A, XM_005264480.1:c.-429C>G, NC_000002.11:g.44066247G>C, NM_022437.2:c.55G>C, NG_008884.1:g.5145=, NG_008884.1:g.5145G>C, XM_005264481.1:c.-429C>G, XR_939707.1:n.566-5399G>C, XM_011533027.1:c.-1287C>G, NG_008883.1:g.4712C>T, NG_008884.1:g.5145G>A, NP_071882.1:p.Asp19=, 17495905, NG_008884.2:g.12167G>C, NG_008884.2:g.12167G>A, XM_005264483.1:c.55G>C, NM_022436.2:c.-429C>G, XM_011533029.1:c.76-5399G>C, XM_011533031.1:c.-153-5399G>C, NC_000002.12:g.43839108=, XM_005264483.2:c.55G>C, NP_071882.1:p.Asp19Asn, XM_011533025.1:c.-1172C>G, rs17495905, NP_071882.1:p.Asp19His, 11887534, XM_005264480.2:c.-429C>G, NC_000002.11:g.44066247=, NG_008883.1:g.4712=, rs11887534, XM_006712074.2:c.-429C>G, XM_011533026.1:c.-429C>G +PA166357182 rs11888492 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233771328 1 0 0 0 0 NG_033238.1:g.16056=, NG_051337.1:g.667C>T, NC_000002.12:g.233771328C>T, NC_000002.11:g.234679974C>G, NG_033238.1:g.16056C>G, NC_000002.12:g.233771328C>G, NG_033238.1:g.16056C>T, NG_002601.2:g.186585C>G, NG_051337.1:g.667C>G, NC_000002.11:g.234679974C>A, rs11888492, NC_000002.11:g.234679974=, NG_002601.2:g.186585=, NG_002601.2:g.186585C>A, 35160160, NG_051337.1:g.667=, NC_000002.12:g.233771328C>A, NC_000002.12:g.233771328=, NG_051337.1:g.667C>A, NC_000002.11:g.234679974C>T, NG_002601.2:g.186585C>T, 17863802, 11888492, NG_033238.1:g.16056C>A +PA166180070 rs11931604 PA361 UGT2B7 NC_000004.12:69062829 2 0 0 0 0 rs11931604, NC_000004.11:g.69928547=, NC_000004.12:g.69062829T>C, 59685585, 11931604, NC_000004.12:g.69062829=, NC_000004.11:g.69928547T>C +PA166177122 rs11933890 NC_000004.12:129249427 1 1 0 0 0 NC_000004.11:g.130170582=, NC_000004.11:g.130170582A>G, 11933890, 56739085, NC_000004.12:g.129249427=, NC_000004.12:g.129249427A>G, rs11933890 +PA166156653 rs11934877 PA29709 IGFBP7 NC_000004.12:57074860 1 0 0 0 0 NC_000004.12:g.57074860T>C, NG_031877.1:g.40526A>G, NG_031877.1:g.40526=, 11934877, 52822035, rs17788238, 61190465, NC_000004.12:g.57074860=, NC_000004.11:g.57941026T>C, NM_001253835.1:c.476-33927A>G, NM_001553.2:c.476-33927A>G, rs11934877, rs52822035, 17788238, rs61190465, NC_000004.11:g.57941026= +PA166156654 rs11938228 PA36550 TLR2 NC_000004.12:153700794 2 1 0 0 0 rs56940691, NG_016229.1:g.21506C>A, NM_001318796.1:c.-16-2098C>A, NM_003264.4:c.-16-2098C>A, NM_001318793.1:c.-16-2098C>A, XM_005263196.1:c.-16-2098C>A, NM_001318787.1:c.-300-1433C>A, XM_005263197.1:c.-16-2098C>A, NC_000004.12:g.153700794C>A, NC_000004.11:g.154621946=, NM_001318791.1:c.-16-2098C>A, XM_005263195.2:c.-16-2098C>A, XM_011532215.1:c.-16-2098C>A, NC_000004.12:g.153700794=, NC_000004.11:g.154621946C>A, XM_005263194.1:c.-16-2098C>A, NG_016229.1:g.21506=, XM_005263193.1:c.-1733C>A, 11938228, NM_001318795.1:c.-16-2098C>A, NC_000004.12:g.153700794C>T, XM_005263195.1:c.-16-2098C>A, NG_016229.1:g.21506C>T, XM_011532216.1:c.-16-2098C>A, XM_005263196.2:c.-16-2098C>A, NC_000004.11:g.154621946C>T, XM_005263194.2:c.-16-2098C>A, rs11938228, NM_001318789.1:c.-16-2098C>A, NM_001318790.1:c.-16-2098C>A, XM_005263193.2:c.-1733C>A, XM_005263197.2:c.-16-2098C>A, 56940691 +PA166156655 rs11940316 PA361 UGT2B7 NC_000004.12:69095409 1 1 0 0 0 11940316, NC_000004.11:g.69961127=, NC_000004.12:g.69095409T>G, NC_000004.11:g.69961127T>C, NM_001074.2:c.-1112T>C, NC_000004.11:g.69961127T>A, NC_000004.12:g.69095409T>C, XM_011532229.1:c.-1112T>C, XM_005265702.2:c.-26-3131T>C, NC_000004.11:g.69961127T>G, NC_000004.12:g.69095409T>A, rs11940316, XM_011532230.1:c.-1112T>C, XM_005265702.1:c.-26-3131T>C, XM_011532231.1:c.-26-3131T>C, NC_000004.12:g.69095409= +PA166177971 rs11940694 PA142671586 KLB NC_000004.12:39413373 1 1 0 0 0 NC_000004.11:g.39414993=, NC_000004.12:g.39413373=, 59480797, 56426476, rs11940694, 13112227, NC_000004.11:g.39414993A>G, NC_000004.12:g.39413373A>G, 11940694 +PA166170568 rs11942223 PA37771 SLC2A9 NC_000004.12:9961141 2 0 0 0 0 NC_000004.12:g.9961141=, NC_000004.11:g.9962765=, NC_000004.11:g.9962765T>C, NG_011540.1:g.84108=, rs11942223, NG_011540.1:g.84108A>G, NC_000004.12:g.9961141T>C, 11942223 +PA166156656 rs11942466 PA24933 AREG NC_000004.12:74556361 3 2 0 0 0 NC_000004.12:g.74556361C>G, NC_000004.12:g.74556361=, NC_000004.12:g.74556361C>A, NW_003571035.1:g.39869C>A, NC_000004.11:g.75422078C>G, rs11942466, NC_000004.11:g.75422078C>A, NC_000004.11:g.75422078=, 11942466 +PA166156657 rs11947402 PA134864098 TSPAN5 NC_000004.12:98680790 2 1 0 0 0 NC_000004.12:g.98680790=, rs11947402, NC_000004.12:g.98680790A>G, NC_000004.11:g.99601941A>G, NC_000004.11:g.99601941=, 11947402 +PA166156872 rs11959113 PA39 ADRB2 NC_000005.10:148848933 1 1 0 0 0 11959113, XM_005268382.1:c.1175-14764G>A, XM_005268383.1:c.1174+20928G>A, NC_000005.9:g.148228496=, NC_000005.9:g.148228496G>C, NC_000005.10:g.148848933=, 61232536, NC_000005.9:g.148228496G>A, rs74294119, NC_000005.10:g.148848933G>A, rs11959113, NC_000005.10:g.148848933G>C, rs61232536, 74294119 +PA166156873 rs11960832 PA134888452 SV2C NC_000005.10:76219161 2 1 0 0 0 NM_001297716.1:c.913+9274C>T, rs58899392, rs60969535, XM_005248470.1:c.913+9274C>T, NM_014979.3:c.913+9274C>T, NC_000005.9:g.75514986C>T, NC_000005.9:g.75514986=, XM_011543281.1:c.913+9274C>T, rs11960832, 60969535, NC_000005.10:g.76219161=, NC_000005.10:g.76219161C>T, XM_011543282.1:c.160+9274C>T, 11960832, 58899392 +PA166157175 rs11966370 PA35822 SLC17A3 NC_000006.12:25849943 1 0 0 0 0 NM_001098486.1:c.1133C>T, NP_006623.2:p.Pro300=, rs11966370, NC_000006.12:g.25849943G>A, NC_000006.11:g.25850171=, XM_005248819.1:c.506C>T, NG_032922.1:g.29301=, NC_000006.11:g.25850171G>A, 11966370, NP_006623.2:p.Pro300Leu, NP_001091956.1:p.Pro378Leu, NC_000006.12:g.25849943=, NG_032922.1:g.29301C>T, NM_006632.3:c.899C>T, XP_005248876.1:p.Pro169Leu +PA166184136 rs11969064 NC_000006.12:18104864 1 1 0 0 0 11969064, NC_000006.11:g.18105095C>T, NC_000006.12:g.18104864=, NC_000006.12:g.18104864C>T, rs11969064, 58209454, NC_000006.11:g.18105095= +PA166164959 rs11971167 PA109 CFTR NC_000007.14:117642528 1 1 0 1 3 NC_000007.14:g.117642528G>T, NP_000483.3:p.Asp1270=, 52835183, 56495521, NC_000007.13:g.117282582G>A, NG_016465.4:g.181745G>A, NP_000483.3:p.Asp1270Asn, NC_000007.14:g.117642528G>A, NC_000007.13:g.117282582G>T, 11971167, NG_016465.4:g.181745G>T, 111887829, NG_016465.4:g.181745=, NP_000483.3:p.Asp1270Tyr, NC_000007.14:g.117642528=, rs11971167, NC_000007.13:g.117282582= +PA166160117 rs11976862 PA38657 GLCCI1 NC_000007.14:8073682 1 0 0 0 0 NG_032073.1:g.109939A>G, 11976862, NC_000007.13:g.8113312A>G, NC_000007.13:g.8113312=, NC_000007.14:g.8073682A>G, NC_000007.14:g.8073682=, NG_032073.1:g.109939=, NC_000007.13:g.8113312A>C, rs11976862, NC_000007.14:g.8073682A>C, NG_032073.1:g.109939A>C, 56767812 +PA166154984 rs119774 PA244 ABCC1 NC_000016.10:15992976 1 1 0 0 0 rs119774, NG_028268.1:g.48400C>T, NC_000016.10:g.15992976=, NM_004996.3:c.49-14840C>T, XM_005255327.1:c.49-14840C>T, NG_028268.1:g.48400=, XM_005255328.1:c.49-14840C>T, rs215071, 17579308, 215071, NC_000016.10:g.15992976C>T, NC_000016.9:g.16086833C>T, NG_028268.2:g.48400=, XM_005255326.1:c.49-14840C>T, XM_005255329.1:c.49-14840C>T, 119774, NC_000016.9:g.16086833=, NT_187607.1:g.1650953C>T, NG_028268.2:g.48400C>T, XM_011522498.1:c.102+724C>T, rs17579308 +PA166160109 rs11978165 PA38657 GLCCI1 NC_000007.14:8061469 1 0 0 0 0 NG_032073.1:g.97726=, NG_032073.1:g.97726G>A, NC_000007.14:g.8061469G>A, NC_000007.13:g.8101099=, NG_032073.1:g.97726G>T, rs11978165, NC_000007.13:g.8101099G>T, 11978165, 57156032, NC_000007.13:g.8101099G>A, NC_000007.14:g.8061469=, NC_000007.14:g.8061469G>T +PA166157452 rs11979430 PA35647 SEMA3C NC_000007.14:80879940 1 0 0 0 0 NC_000007.14:g.80879940C>T, rs56476176, NG_054744.1:g.47440G>A, NG_054744.1:g.47440=, 11979430, XM_005250113.1:c.-72+25889G>A, NC_000007.13:g.80509256=, rs57935337, XM_005250112.1:c.157+36739G>A, NM_006379.3:c.103+36739G>A, rs11979430, 56476176, NC_000007.14:g.80879940=, NC_000007.13:g.80509256C>T, 57935337 +PA166157453 rs11983225 PA267 ABCB1 NC_000007.14:87532204 2 1 0 0 0 NC_000007.13:g.87161520=, NG_011513.1:g.186045A>G, NC_000007.14:g.87532204=, NC_000007.14:g.87532204T>C, NM_000927.4:c.2482-707A>G, NG_011513.1:g.186045=, NC_000007.13:g.87161520T>C, rs11983225, 11983225 +PA166177401 rs11986055 PA29776 IKBKB NC_000008.11:42277660 1 0 0 0 0 59443609, 11986055, NG_041793.1:g.11359=, NC_000008.11:g.42277660A>G, NC_000008.10:g.42135178A>G, NC_000008.11:g.42277660=, rs11986055, NC_000008.10:g.42135178=, NC_000008.10:g.42135178A>C, NG_041793.1:g.11359A>G, 17875664, NG_041793.1:g.11359A>C, NC_000008.11:g.42277660A>C +PA166157637 rs11989215 PA24792,PA30701 ANGPT2,MCPH1 NC_000008.11:6538388 1 0 0 0 0 NG_029483.1:g.29876=, rs58935245, XM_011534756.1:c.2215-16878G>A, XM_011534760.1:c.1689+38459G>A, NC_000008.11:g.6538388G>T, NG_016619.2:g.136797G>A, NG_016619.2:g.136797G>C, NM_001118888.1:c.289-10712C>T, NM_001118887.1:c.289-5901C>T, XM_005266034.1:c.2214+38459G>A, NG_029483.1:g.29876C>G, NM_024596.3:c.2214+38459G>A, NG_016619.1:g.136797G>A, NC_000008.11:g.6538388G>A, NG_029483.1:g.29876C>A, NC_000008.11:g.6538388G>C, XM_011534759.1:c.2215-7074G>A, NC_000008.11:g.6538388=, NC_000008.10:g.6395909=, XM_011534757.1:c.2215-23468G>A, 11989215, NG_029483.1:g.29876C>T, NG_016619.2:g.136797=, NC_000008.10:g.6395909G>T, rs11989215, NM_001147.2:c.289-5901C>T, NC_000008.10:g.6395909G>A, XM_011534755.1:c.2214+38459G>A, XM_005266035.1:c.1059+38459G>A, NC_000008.10:g.6395909G>C, 58935245, NG_016619.2:g.136797G>T +PA166157638 rs11993031 PA26947 CSMD1 NC_000008.11:2952059 1 1 0 0 0 rs11993031, 11993031, XM_011534754.1:c.6062-784A>T, rs61511569, NM_033225.5:c.10040-784A>T, NC_000008.10:g.2809581T>A, NC_000008.11:g.2952059T>A, 61511569, NC_000008.11:g.2952059=, XM_011534752.1:c.9995-784A>T, NC_000008.10:g.2809581=, XM_011534753.1:c.7133-784A>T +PA166157639 rs11997869 NC_000008.11:6780943 1 0 0 0 0 NC_000008.11:g.6780943=, NC_000008.10:g.6638464C>G, NC_000008.10:g.6638464=, NC_000008.11:g.6780943C>G, 11997869, NC_000008.10:g.6638464C>A, rs11997869, NC_000008.11:g.6780943C>A +PA166157834 rs12003906 PA24373 ABCA1 NC_000009.12:104883196 1 1 0 0 0 NG_007981.1:g.49960C>G, XM_011518339.1:c.378-39C>A, NG_007981.1:g.49960=, XM_005251773.1:c.303-39C>A, XM_005251778.1:c.303-39C>A, XM_005251775.1:c.240-39C>A, XM_005251776.1:c.123-39C>A, NG_007981.1:g.49960C>A, 58402594, NC_000009.11:g.107645477G>T, NM_005502.3:c.303-39C>A, XM_011518343.1:c.378-39C>A, rs58402594, XM_011518341.1:c.378-39C>A, XM_011518342.1:c.-61-39C>A, XM_005251780.1:c.303-39C>A, XM_005251777.1:c.303-39C>A, rs12003906, NC_000009.12:g.104883196G>T, NC_000009.12:g.104883196=, XM_011518344.1:c.378-39C>A, NC_000009.11:g.107645477=, NC_000009.12:g.104883196G>C, XM_005251774.1:c.303-39C>A, XM_011518340.1:c.378-39C>A, 12003906, NC_000009.11:g.107645477G>C +PA166179982 rs1202170 PA267 ABCB1 NC_000007.14:87565790 1 0 0 0 0 NC_000007.14:g.87565790C>T, rs1202170, 386522504, NG_011513.1:g.152459G>C, NG_011513.1:g.152459=, NC_000007.13:g.87195106=, NC_000007.14:g.87565790C>G, NC_000007.13:g.87195106C>T, 17326756, NG_011513.1:g.152459G>A, 1202170, NC_000007.14:g.87565790=, NC_000007.13:g.87195106C>G +PA166181269 rs1202171 PA267 ABCB1 NC_000007.14:87581729 1 0 0 0 0 17345109, NC_000007.14:g.87581729T>C, NC_000007.13:g.87211045=, NC_000007.13:g.87211045T>C, rs1202171, NC_000007.14:g.87581729=, NC_000007.13:g.87211045T>A, NG_011513.1:g.136520A>G, NC_000007.14:g.87581729T>A, NG_011513.1:g.136520A>T, 60669215, 59060456, 1202171, NG_011513.1:g.136520= +PA166153837 rs12022243 PA145 DPYD NC_000001.11:97397224 3 1 0 0 0 NM_000110.3:c.1906-14763G>A, rs12022243, NG_008807.2:g.528836G>A, NC_000001.10:g.97862780=, NC_000001.11:g.97397224=, XM_006710397.2:c.1906-14763G>A, 12022243, NC_000001.10:g.97862780C>T, XM_005270563.1:c.1906-14763G>A, XM_005270561.1:c.1795-14763G>A, XM_005270562.1:c.1690-14763G>A, NC_000001.11:g.97397224C>T, XM_005270562.3:c.1690-14763G>A, NG_008807.2:g.528836= +PA166182161 rs1202283 PA268 ABCB4 NC_000007.14:87452976 1 1 0 0 0 17858537, NC_000007.14:g.87452976=, NG_007118.1:g.32457C>T, 1639244, 60262988, rs1202283, 1202315, NG_007118.2:g.32457=, NC_000007.13:g.87082292=, NG_007118.1:g.32457=, NP_000434.1:p.Asn168=, 1202283, NC_000007.14:g.87452976G>A, NG_007118.2:g.32457C>T, 2230026, NC_000007.13:g.87082292G>A, 56619505 +PA166153838 rs12023000 PA142672209 CAMK2N1 NC_000001.11:20463152 1 0 0 0 0 12023000, rs12023000, NC_000001.11:g.20463152=, NC_000001.11:g.20463152A>G, NC_000001.10:g.20789645=, NC_000001.10:g.20789645A>G +PA166165275 rs12036333 NC_000001.11:239355766 1 0 0 0 0 12036333, NC_000001.10:g.239519066G>A, 386522585, NC_000001.11:g.239355766=, rs12036333, NC_000001.11:g.239355766G>A, 56480743, NC_000001.10:g.239519066= +PA166157293 rs1204014 PA37931 TAS2R16 NC_000007.14:122994789 1 0 0 0 0 NC_000007.13:g.122634843C>T, 59698445, NM_016945.2:c.846G>A, 17145282, NC_000007.13:g.122634843=, NP_058641.1:p.Thr282=, rs1204014, 10350572, 1204014, NC_000007.14:g.122994789C>T, NG_011980.1:g.5912G>A, rs59698445, rs17145282, NG_011980.1:g.5912=, 11567320, rs11567320, rs10350572, NC_000007.14:g.122994789= +PA166153839 rs12041331 PA162399233 PEAR1 NC_000001.11:156899922 14 4 0 0 0 NM_001080471.1:c.-9-3996G>A, rs60733787, 12041331, XM_011509509.1:c.-107-2266G>A, rs56433638, XM_011509511.1:c.-168-2266G>A, XM_005245141.1:c.-168-2266G>A, XM_006711302.2:c.-168-2266G>A, NC_000001.10:g.156869714G>A, XM_011509512.1:c.-494-3996G>A, 60733787, NC_000001.11:g.156899922G>A, XM_011509510.1:c.-107-2266G>A, rs12041331, 56433638, XM_011509508.1:c.-164-2266G>A, NC_000001.11:g.156899922=, XM_005245141.2:c.-168-2266G>A, NC_000001.10:g.156869714= +PA166153840 rs12042763 PA293 PTGS2 NC_000001.11:186682744 1 1 0 0 0 NC_000001.10:g.186651876G>C, NC_000001.10:g.186651876G>A, rs12042763, NG_028206.2:g.2684C>G, 12042763, NC_000001.11:g.186682744G>T, NG_028206.2:g.2684C>A, NC_000001.10:g.186651876=, NC_000001.10:g.186651876G>T, NC_000001.11:g.186682744G>C, NG_028206.2:g.2684C>T, NG_028206.2:g.2684=, NC_000001.11:g.186682744G>A, NC_000001.11:g.186682744= +PA166153841 rs12044852 PA26227 CD58 NC_000001.11:116545157 1 1 0 0 0 XR_947739.1:n.210+333C>A, XR_947740.1:n.210+333C>A, NC_000001.11:g.116545157=, rs60002408, rs12044852, rs60224328, NM_001779.2:c.71-553G>T, 12044852, 60224328, 60002408, 386522642, NM_001144822.1:c.71-553G>T, NC_000001.10:g.117087779C>A, NC_000001.10:g.117087779=, NC_000001.11:g.116545157C>A, NR_026665.1:n.192-553G>T, rs386522642 +PA166153842 rs12046844 PA33129 PDE4B NC_000001.11:65772696 2 1 0 0 0 60665040, NC_000001.11:g.65772696G>A, rs60665040, 12046844, rs12046844, NC_000001.10:g.66238379G>A, NC_000001.11:g.65772696=, NC_000001.10:g.66238379= +PA166180963 rs1204964501 PA85 CACNA1S NC_000001.11:201059297 1 0 0 0 0 NG_009816.1:g.58270C>G, NG_009816.2:g.58270=, NC_000001.11:g.201059297G>C, rs1204964501, NC_000001.11:g.201059297=, NC_000001.10:g.201028425G>C, NC_000001.10:g.201028425=, NG_009816.1:g.58270=, 1204964501, NP_000060.2:p.His1139Gln, NG_009816.2:g.58270C>G, NP_000060.2:p.His1139= +PA166153541 rs1205 PA120 CRP NC_000001.11:159712443 4 1 0 0 0 rs3190272, XM_011509207.1:c.*374G>A, XM_005244904.1:c.*374G>A, 17860476, rs17860476, 3190272, NC_000001.11:g.159712443=, NG_013007.1:g.7147=, 1205, NM_000567.2:c.*1082G>A, rs1205, NC_000001.10:g.159682233=, NC_000001.10:g.159682233C>T, rs16955, NC_000001.11:g.159712443C>T, NG_013007.1:g.7147G>A, 16955 +PA166154826 rs12050217 PA79 BDKRB1 NC_000014.9:96262416 2 1 0 0 0 NC_000014.8:g.96728753A>G, 33949564, rs36221127, rs12050217, NC_000014.9:g.96262416A>G, NC_000014.9:g.96262416=, 58745600, rs33949564, 12050217, NC_000014.8:g.96728753=, NM_000710.3:c.-129-236A>G, XM_005267977.1:c.-10-1257A>G, XM_005267978.1:c.-129-236A>G, 36221127, rs58745600 +PA166164874 rs12050587 PA33290,PA166181594 PIGB,PIGBOS1 NC_000015.10:55335330 2 1 0 0 0 12050587, 59301568, rs12050587, NC_000015.10:g.55335330=, NC_000015.9:g.55627528=, NC_000015.9:g.55627528A>G, NC_000015.10:g.55335330A>G +PA166164890 rs12050885 PA34117 RAB27A NC_000015.10:55266426 2 0 0 0 0 NC_000015.10:g.55266426T>A, rs12050885, NC_000015.9:g.55558624T>G, NG_009103.1:g.28378=, NC_000015.10:g.55266426=, NG_009103.1:g.28378A>T, 12050885, NC_000015.9:g.55558624=, 52796495, NG_009103.1:g.28378A>C, NC_000015.10:g.55266426T>G, 61292366, NC_000015.9:g.55558624T>A +PA166155811 rs12052787 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233757935 1 0 0 0 0 NM_019093.2:c.868-9099C>T, NM_019075.2:c.856-9099C>T, XR_241241.1:n.942-9099C>T, XR_241238.1:n.924-9099C>T, rs12052787, NM_205862.1:c.61-9099C>T, NC_000002.12:g.233757935=, NC_000002.12:g.233757935C>T, NM_019076.4:c.856-9099C>T, XR_241240.1:n.1023-9099C>T, NG_002601.2:g.173192=, NC_000002.11:g.234666581C>T, NG_033238.1:g.2663C>T, NM_001072.3:c.862-9099C>T, NG_002601.2:g.173192C>T, NM_019078.1:c.868-9099C>T, NM_007120.2:c.868-9099C>T, 386522690, NC_000002.11:g.234666581=, NM_019077.2:c.856-9099C>T, 12052787, NM_021027.2:c.856-9099C>T, rs386522690, NG_033238.1:g.2663= +PA166156874 rs12054895 NC_000005.10:27611324 2 1 0 0 0 NC_000005.10:g.27611324=, NC_000005.10:g.27611324G>T, rs12054895, 57570722, rs57570722, 12054895, NC_000005.9:g.27611431=, NC_000005.9:g.27611431G>T +PA166153843 rs12059276 PA29024 GSTM3 NC_000001.11:109730919 1 0 0 0 0 12059276, NC_000001.10:g.110273541C>T, NC_000001.11:g.109730919C>T, rs60940964, NC_000001.11:g.109730919=, rs12059276, 60940964, NC_000001.10:g.110273541= +PA166181111 rs12060765 PA26009 CACNA1E NC_000001.11:181490624 1 0 0 0 0 60413807, 12060765, rs12060765, NC_000001.11:g.181490624=, NC_000001.10:g.181459760=, NC_000001.11:g.181490624G>T, NC_000001.10:g.181459760G>T, NG_050616.1:g.12314G>T, NG_050616.1:g.12314= +PA166153844 rs12065184 PA30930 MPZ NC_000001.11:161308887 1 0 0 0 0 NG_008055.1:g.6086T>A, 59221238, NM_001315491.1:c.67+952T>G, rs52829536, NM_000530.6:c.67+952T>G, NC_000001.10:g.161278677A>T, NC_000001.11:g.161308887A>C, 12065184, NM_000530.7:c.67+952T>G, rs59221238, 52829536, NC_000001.10:g.161278677=, NG_008055.1:g.6086=, NG_008055.1:g.6086T>G, NC_000001.10:g.161278677A>C, NC_000001.11:g.161308887=, rs12065184, NC_000001.11:g.161308887A>T +PA166180994 rs12067645 NC_000001.11:40960192 4 0 0 0 0 58852021, NC_000001.10:g.41425864=, NC_000001.10:g.41425864G>A, rs12067645, NC_000001.11:g.40960192=, NC_000001.11:g.40960192G>A, 12067645 +PA166153845 rs12069113 PA26069,PA30908 CAPZA1,MOV10 NC_000001.11:112671791 1 0 0 0 0 NC_000001.11:g.112671791C>T, 60668916, NC_000001.10:g.113214413=, rs60668916, NM_006135.2:c.*1487+172C>T, NM_006135.2:c.*1659C>T, 12069113, rs12069113, NC_000001.10:g.113214413C>T, NC_000001.11:g.112671791= +PA166183961 rs12072348 PA115 CHRNB2 NC_000001.11:154574816 1 0 0 0 0 NC_000001.10:g.154547292=, rs12072348, 12072348, NG_008027.1:g.12036=, NC_000001.11:g.154574816A>C, NC_000001.11:g.154574816=, NC_000001.10:g.154547292A>C, NG_008027.1:g.12036A>C +PA166153846 rs12076902 PA26069 CAPZA1 NC_000001.11:112624914 1 0 0 0 0 rs12076902, NC_000001.11:g.112624914=, NM_006135.2:c.39+5031G>A, 12076902, XM_011542225.1:c.39+5031G>A, NC_000001.10:g.113167536=, NC_000001.10:g.113167536G>A, NC_000001.11:g.112624914G>A +PA166157540 rs1208 PA18 NAT2 NC_000008.11:18400806 130 9 8 0 0 NG_012246.1:g.14562G>A, rs56599719, 17126586, 52821724, NG_012246.1:g.14562G>C, NC_000008.11:g.18400806G>C, NM_000015.2:c.803G>A, NC_000008.11:g.18400806G>A, rs17858365, NG_012246.1:g.14562=, NG_012246.1:g.14562G=, rs58999469, XP_011542660.1:p.Arg268=, XM_011544358.1:c.803G>A, NC_000008.10:g.18258316G>C, NC_000008.10:g.18258316G>A, 56599719, NP_000006.2:p.Arg268Ile, NP_000006.2:p.Arg268=, XP_011542660.1:p.Arg268Lys, 58999469, rs1208, NC_000008.10:g.18258316G>T, NC_000008.10:g.18258316G=, NP_000006.2:p.Arg268Thr, 17845485, NM_000015.2:c.803G=, NC_000008.11:g.18400806G=, rs52821724, NC_000008.10:g.18258316=, NC_000008.11:g.18400806G>T, NG_012246.1:g.14562G>T, rs3181478, rs17845485, 17858365, 3181478, rs17126586, NP_000006.2:p.Arg268Lys, NC_000008.11:g.18400806=, XM_011544358.1:c.803G=, 1208 +PA166226821 rs12081765 NC_000001.11:165372612 1 0 0 0 0 57478597, 58330431, NC_000001.11:g.165372612A>G, NC_000001.10:g.165341849A>G, rs12081765, 12081765, NC_000001.11:g.165372612=, NC_000001.10:g.165341849= +PA166153847 rs12082710 PA36487 TGFBR3 NC_000001.11:91689780 1 1 0 0 0 NC_000001.11:g.91689780=, NM_003243.4:c.2437+5892A>G, rs57042735, 12082710, XM_006710868.1:c.2437+5892A>G, NC_000001.10:g.92155337=, NG_027757.1:g.221223A>G, NM_001195683.1:c.2434+5892A>G, XM_011542058.1:c.1771+5892A>G, NC_000001.11:g.91689780T>A, NG_027757.1:g.221223=, rs12082710, NC_000001.11:g.91689780T>C, NC_000001.10:g.92155337T>C, XM_006710867.1:c.2437+5892A>G, NG_027757.1:g.221223A>T, NC_000001.10:g.92155337T>A, NM_001195684.1:c.2434+5892A>G, 57042735, NR_036634.1:n.3049+5892A>G +PA166153848 rs12083537 PA29835 IL6R NC_000001.11:154408627 3 1 0 0 0 NC_000001.11:g.154408627=, NC_000001.10:g.154381103A>G, XR_241131.1:n.-1804T>C, NG_012087.1:g.8435A>G, NG_012087.1:g.8435=, XM_005245139.1:c.85+2913A>G, XR_241131.2:n.208T>C, NC_000001.11:g.154408627A>G, rs12083537, 12083537, NM_000565.3:c.85+2913A>G, XM_006711299.2:c.85+2913A>G, NM_001206866.1:c.85+2913A>G, NC_000001.10:g.154381103=, NM_181359.2:c.85+2913A>G, XM_005245140.1:c.85+2913A>G, XM_006711298.1:c.85+2913A>G +PA166153849 rs12090346 PA162382539 CMPK1 NC_000001.11:47375885 1 0 0 0 0 NC_000001.10:g.47841557C>T, NC_000001.11:g.47375885=, rs12090346, NM_016308.2:c.645+592C>T, NC_000001.10:g.47841557=, NC_000001.11:g.47375885C>T, 12090346, NM_001136140.1:c.498+592C>T, NR_046394.1:n.717+592C>T +PA166177177 rs12094644 NC_000001.11:168689001 1 1 0 0 0 NC_000001.11:g.168689001T>A, NC_000001.10:g.168658239T>A, NC_000001.10:g.168658239=, 12094644, rs12094644, NC_000001.11:g.168689001=, 58680706 +PA166155993 rs1209950 PA27903 ETS2 NC_000021.9:38801604 1 0 0 0 0 NC_000021.8:g.40173528=, NC_000021.9:g.38801604=, 1209950, 1734584, rs1209950, rs1734584, NC_000021.8:g.40173528C>T, NC_000021.9:g.38801604C>T +PA166160180 rs12103667 PA26874 CRHR1 NC_000017.11:45807885 1 0 0 0 0 NG_009902.1:g.28623=, 115411510, rs12103667, NC_000017.11:g.45807885=, NC_000017.11:g.45807885A>G, NC_000017.10:g.43885251=, NG_009902.1:g.28623A>G, NC_000017.10:g.43885251A>G, 12103667 +PA166156077 rs1210638 PA38185 DGCR5 NC_000022.11:18994050 1 0 0 0 0 NC_000022.11:g.18994050=, NR_045121.1:n.2600T>C, NR_002733.2:n.2744T>C, rs58738360, NR_110533.1:n.711+2033T>C, rs1210638, 1210638, NC_000022.10:g.18981563T>C, 58738360, NC_000022.10:g.18981563=, NC_000022.11:g.18994050T>C +PA166163448 rs12117078 PA142672073 CRTC2 NC_000001.11:153956889 3 0 0 0 0 rs12117078, 12117078, NC_000001.10:g.153929365G>C, NC_000001.10:g.153929365G>A, NC_000001.10:g.153929365=, NC_000001.11:g.153956889=, NC_000001.11:g.153956889G>C, NC_000001.11:g.153956889G>A +PA166153850 rs12118636 NC_000001.11:52610487 1 1 0 0 0 rs34623603, NC_000001.10:g.53076159G>A, NC_000001.11:g.52610487G>A, 12118636, NC_000001.10:g.53076159=, NC_000001.11:g.52610487=, 34623603, rs12118636 +PA166163749 rs12119882 PA145 DPYD NC_000001.11:97696806 1 1 0 0 0 12119882, rs12119882, NC_000001.10:g.98162362A>T, NG_008807.2:g.229254T>A, NC_000001.11:g.97696806A>G, NG_008807.2:g.229254=, NG_008807.2:g.229254T>C, NC_000001.11:g.97696806=, NC_000001.11:g.97696806A>T, NC_000001.10:g.98162362A>G, 57845041, NC_000001.10:g.98162362= +PA166179525 rs1212037891 PA145 DPYD NC_000001.11:97721668 1 1 0 0 0 1212037891, NC_000001.10:g.98187224A>T, NG_008807.2:g.204392T>A, NC_000001.11:g.97721668=, NP_000101.2:p.Tyr109=, NP_000101.2:p.Tyr109Asn, rs1212037891, NC_000001.10:g.98187224=, NC_000001.11:g.97721668A>T, NG_008807.2:g.204392= +PA166153851 rs12126638 PA37228 USH2A NC_000001.11:216002354 1 0 0 0 0 NC_000001.10:g.216175696T>C, NG_009497.2:g.426095A>G, NM_206933.2:c.6326-1792A>G, rs111180916, 56774665, 111180916, 12126638, rs12126638, NG_009497.2:g.426095=, NC_000001.11:g.216002354T>C, rs56774665, NG_009497.1:g.426043A>G, NC_000001.11:g.216002354=, NG_009497.1:g.426043=, NC_000001.10:g.216175696= +PA166302984 rs12129861 PA33165 PDZK1 NC_000001.11:145709377 1 0 0 0 0 rs12129861, NC_000001.11:g.145709377C>T, NC_000001.10:g.145725689=, 12129861, NG_050630.2:g.3825G>A, NC_000001.10:g.145725689G>A, NG_050630.2:g.3825=, NC_000001.11:g.145709377= +PA166153852 rs12132152 PA145 DPYD NC_000001.11:97057448 4 1 0 0 0 NC_000001.11:g.97057448G>A, NC_000001.10:g.97523004=, NC_000001.11:g.97057448G>C, rs58172137, rs12132152, NC_000001.10:g.97523004G>A, NC_000001.10:g.97523004G>C, 12132152, 58172137, NC_000001.11:g.97057448= +PA166179489 rs12138564 PA26180 CCT3 NC_000001.11:156321809 1 0 0 0 0 NC_000001.11:g.156321809G>A, NC_000001.10:g.156291600G>A, NC_000001.10:g.156291600=, rs12138564, NC_000001.10:g.156291600G>T, 12138564, NC_000001.11:g.156321809=, NC_000001.11:g.156321809G>T +PA166153853 rs12139042 PA28360 MTOR NC_000001.11:11107089 1 0 0 0 0 NC_000001.10:g.11167146=, XP_005263497.1:p.Gln1680Ter, NC_000001.11:g.11107089=, 17229270, NM_004958.3:c.*396C>T, rs17229270, 17848573, NC_000001.10:g.11167146G>A, NC_000001.11:g.11107089G>A, 12139042, NG_033239.1:g.160463=, XM_005263440.1:c.5038C>T, rs12139042, rs17848573, XM_005263441.1:c.4031-300C>T, XM_005263439.1:c.*396C>T, NG_033239.1:g.160463C>T, XM_005263438.1:c.*396C>T +PA166203343 rs12142086 PA134962294 IKBKE NC_000001.11:206484465 1 1 0 0 0 56728561, NC_000001.11:g.206484465=, NC_000001.11:g.206484465T>C, 12142086, NC_000001.10:g.206657802T>G, rs12142086, NC_000001.11:g.206484465T>A, NC_000001.10:g.206657802T>A, NC_000001.11:g.206484465T>G, NC_000001.10:g.206657802=, NC_000001.10:g.206657802T>C +PA166157527 rs121434568 PA7360 EGFR NC_000007.14:55191822 63 1 0 0 8 NG_007726.3:g.177791T>G, XP_005271804.1:p.Leu805Arg, NC_000007.13:g.55259515T>A, NP_005219.2:p.Leu858=, NC_000007.14:g.55191822T>G, NP_005219.2:p.Leu858Arg, NG_007726.3:g.177791=, NG_007726.3:g.177791T>A, NC_000007.13:g.55259515T>G, rs121434568, XM_005271747.1:c.2414T>G, NC_000007.13:g.55259515=, XP_005271803.1:p.Leu813Arg, NC_000007.14:g.55191822T>A, XM_005271746.1:c.2438T>G, NM_005228.3:c.2573T>G, 121434568, NC_000007.14:g.55191822=, NP_005219.2:p.Leu858Gln +PA166157528 rs121434569 PA7360 EGFR NC_000007.14:55181378 18 2 0 0 3 XP_005271804.1:p.Thr737Met, NM_005228.3:c.2369C>T, XM_005271747.1:c.2210C>T, NC_000007.14:g.55181378C>T, NG_007726.3:g.167347=, NP_005219.2:p.Thr790Met, rs121434569, XP_005271803.1:p.Thr745Met, NC_000007.14:g.55181378=, NR_047551.1:n.1193G>A, NP_005219.2:p.Thr790=, NG_007726.3:g.167347C>T, NC_000007.13:g.55249071=, NC_000007.13:g.55249071C>T, 121434569, XM_005271746.1:c.2234C>T +PA166156475 rs121434586 PA29863 IMPDH2 NC_000003.12:49026719 1 0 0 0 0 NC_000003.12:g.49026719G>A, 121434586, NP_000875.2:p.Leu263=, rs121434586, XP_006713191.1:p.Leu333Phe, NC_000003.11:g.49064152=, NG_012091.1:g.7724=, NC_000003.12:g.49026719=, NC_000003.11:g.49064152G>A, NP_000875.2:p.Leu263Phe, NM_000884.2:c.787C>T, NG_012091.1:g.7724C>T, XM_006713128.2:c.997C>T +PA166153854 rs12143842 NC_000001.11:162064100 1 1 0 0 0 NC_000001.10:g.162033890C>T, NC_000001.10:g.162033890=, NC_000001.11:g.162064100C>G, NC_000001.10:g.162033890C>G, NC_000001.11:g.162064100=, 12143842, rs59411707, 59411707, rs12143842, NC_000001.11:g.162064100C>T +PA166153855 rs12145722 NC_000001.11:22416492 1 0 0 0 0 rs12145722, 12145722, NC_000001.10:g.22742985C>T, NC_000001.11:g.22416492C>T, NC_000001.10:g.22742985=, 60246279, NC_000001.11:g.22416492=, rs60246279, XR_947058.1:n.811G>A +PA166156980 rs1214763 PA24392 ABCC10 NC_000006.12:43392523 1 0 0 0 0 rs1214763, rs2153700, NC_000006.12:g.43392523=, NC_000006.11:g.43360261=, NC_000006.12:g.43392523T>G, XR_926814.1:n.400+789T>C, rs60427804, 2153700, NC_000006.11:g.43360261T>C, NC_000006.11:g.43360261T>A, NC_000006.12:g.43392523T>A, NC_000006.12:g.43392523T>C, XR_926815.1:n.400+789T>C, 1772678, 60427804, NC_000006.11:g.43360261T>G, rs1772678, 1214763 +PA166182212 rs12148896 PA387 SLC28A1 NC_000015.10:84891963 1 1 0 0 0 NC_000015.10:g.84891963=, NC_000015.9:g.85435194G>A, 12148896, NC_000015.10:g.84891963G>A, NC_000015.9:g.85435194=, rs12148896, 58910756 +PA166160190 rs12150390 PA26874 CRHR1 NC_000017.11:45818862 1 0 0 0 0 117535562, rs12150390, 141257277, NC_000017.10:g.43896228T>C, 17762852, NG_009902.1:g.39601T>C, NC_000017.11:g.45818862T>C, NC_000017.10:g.43896228=, NG_009902.1:g.39601=, 12150390, NC_000017.11:g.45818862= +PA166169479 rs12153644 PA36055 SPARC NC_000005.10:151680375 1 0 0 0 0 NC_000005.10:g.151680375=, NG_042174.1:g.11680=, NC_000005.10:g.151680375T>C, 12153644, NG_042174.1:g.11680A>T, rs12153644, NG_042174.1:g.11680A>G, NC_000005.9:g.151059936T>A, NC_000005.10:g.151680375T>A, NC_000005.9:g.151059936=, NC_000005.9:g.151059936T>C +PA166282081 rs12154537 NC_000007.14:121985055 1 0 0 0 0 NC_000007.13:g.121625109=, NC_000007.14:g.121985055A>G, NC_000007.13:g.121625109A>G, NG_023266.1:g.116951A>G, 12154537, NG_023266.1:g.116951=, NC_000007.14:g.121985055=, rs12154537 +PA166180103 rs12190259 PA31945 OPRM1 NC_000006.12:154036852 1 0 0 0 0 NG_021208.2:g.31352A>C, NG_021208.2:g.31352=, NC_000006.11:g.154357987A>C, 12190259, NC_000006.12:g.154036852A>C, rs12190259, NC_000006.12:g.154036852=, NC_000006.11:g.154357987= +PA166185729 rs121908547 PA35006 SCN4A NC_000017.11:63943825 3 2 0 0 0 NG_042788.1:g.26733=, NG_042788.1:g.26733G>A, NG_011699.1:g.34094=, NC_000017.10:g.62021185=, NP_000325.4:p.Thr1313Met, NG_011699.1:g.34094C>T, NC_000017.11:g.63943825=, NC_000017.11:g.63943825G>A, rs121908547, NP_000325.4:p.Thr1313=, 121908547, NC_000017.10:g.62021185G>A +PA166185725 rs121908551 PA35006 SCN4A NC_000017.11:63944708 1 0 0 0 0 NC_000017.11:g.63944708C>T, NG_042788.1:g.27616=, NP_000325.4:p.Val1293Ile, rs121908551, NC_000017.10:g.62022068=, 121908551, NC_000017.11:g.63944708=, NG_011699.1:g.33211=, NP_000325.4:p.Val1293=, NC_000017.10:g.62022068C>T, NG_011699.1:g.33211G>A, NG_042788.1:g.27616C>T +PA166185726 rs121908560 PA35006 SCN4A NC_000017.11:63944694 2 1 0 0 0 rs121908560, NG_011699.1:g.33225C>A, NG_042788.1:g.27602G>T, NC_000017.10:g.62022054G>T, 121908560, NC_000017.10:g.62022054=, NC_000017.11:g.63944694=, NP_000325.4:p.Asn1297Lys, NC_000017.11:g.63944694G>T, NG_011699.1:g.33225=, NP_000325.4:p.Asn1297=, NG_042788.1:g.27602= +PA166285041 rs121908585 PA33147 PDGFRA NC_000004.12:54285926 0 0 0 0 2 NG_009250.1:g.61830A>T, NC_000004.12:g.54285926=, NG_009250.1:g.61830=, NP_006197.1:p.Asp842Val, NC_000004.11:g.55152093A>T, 121908585, rs121908585, NP_006197.1:p.Asp842=, NC_000004.12:g.54285926A>T, NC_000004.11:g.55152093= +PA166178065 rs121908751 PA109 CFTR NC_000007.14:117530899 1 1 0 0 1 NG_016465.4:g.70116G>A, NP_000483.3:p.Glu92=, NC_000007.13:g.117170953G>A, NP_000483.3:p.Glu92Lys, NC_000007.14:g.117530899=, 121908751, 121909027, 121909029, NC_000007.14:g.117530899G>T, NC_000007.13:g.117170953G>T, NG_016465.4:g.70116G>T, rs121908751, NC_000007.14:g.117530899G>A, NP_000483.3:p.Glu92Ter, NG_016465.4:g.70116=, NC_000007.13:g.117170953= +PA166164946 rs121908752 PA109 CFTR NC_000007.14:117535285 1 1 0 1 5 121909030, NC_000007.14:g.117535285=, NG_016465.4:g.74502T>G, NC_000007.13:g.117175339=, NC_000007.13:g.117175339T>G, 121908752, NC_000007.14:g.117535285T>G, NP_000483.3:p.Leu206Trp, NP_000483.3:p.Leu206=, NG_016465.4:g.74502=, rs121908752 +PA166164947 rs121908753 PA109 CFTR NC_000007.14:117540285 1 1 0 1 5 NC_000007.14:g.117540285G>A, NP_000483.3:p.Arg352=, NC_000007.14:g.117540285=, 121909032, NG_016465.4:g.79502=, NG_016465.4:g.79502G>A, 121908753, NC_000007.13:g.117180339G>A, NP_000483.3:p.Arg352Gln, rs121908753, NC_000007.13:g.117180339= +PA166157529 rs121908755 PA109 CFTR NC_000007.14:117587800 5 1 1 1 5 XM_011515752.1:c.1736G>A, NC_000007.14:g.117587800G>T, XM_011515751.1:c.1736G>A, XP_011514054.1:p.Ser579Asn, XP_011514055.1:p.Ser468Ile, 121909003, NG_056131.1:g.124G>T, 121909004, NC_000007.13:g.117227854G>T, XP_011514053.1:p.Ser579Ile, NG_056131.3:g.755G>A, 121908755, 121908756, NC_000007.14:g.117587800=, NP_000483.3:p.Ser549Asn, XM_011515752.1:c.1736G>T, NG_016465.4:g.127017G>T, NG_056131.3:g.755G>T, XP_011514056.1:p.Ser468Asn, NG_016465.4:g.127017G>A, XM_011515754.1:c.1403G>T, XP_011514055.1:p.Ser468Asn, NP_000483.3:p.Ser549=, NG_056131.3:g.755=, NM_000492.3:c.1646G>T, NP_000483.3:p.Ser549Ile, NC_000007.13:g.117227854=, XM_011515751.1:c.1736G>T, XM_011515753.1:c.1403G>T, XP_011514054.1:p.Ser579Ile, NC_000007.14:g.117587800G>A, XP_011514053.1:p.Ser579Asn, NM_000492.3:c.1646G>A, XP_011514056.1:p.Ser468Ile, NC_000007.13:g.117227854G>A, NG_056131.1:g.124=, rs121908755, rs121908756, XM_011515753.1:c.1403G>A, NG_056131.1:g.124G>A, XM_011515754.1:c.1403G>A, rs121909003, NG_016465.4:g.127017=, rs121909004 +PA166157530 rs121908757 PA109 CFTR NC_000007.14:117587799 4 1 1 1 5 NG_016465.4:g.127016A>C, XM_011515751.1:c.1735A>C, XP_011514056.1:p.Ser468Arg, 121908757, NC_000007.14:g.117587799A>C, XM_011515752.1:c.1735A>C, NG_056131.1:g.123A>C, NP_000483.3:p.Ser549=, NG_056131.3:g.754=, NC_000007.13:g.117227853=, NM_000492.3:c.1645A>C, NG_056131.3:g.754A>C, NC_000007.13:g.117227853A>C, XP_011514054.1:p.Ser579Arg, NC_000007.14:g.117587799=, NG_056131.1:g.123=, XP_011514053.1:p.Ser579Arg, XM_011515753.1:c.1402A>C, XM_011515754.1:c.1402A>C, rs121908757, NP_000483.3:p.Ser549Arg, XP_011514055.1:p.Ser468Arg, NG_016465.4:g.127016= +PA166157531 rs121909005 PA109 CFTR NC_000007.14:117587801 3 1 1 0 5 NC_000007.13:g.117227855=, NG_056131.3:g.756=, NM_000492.3:c.1647T>G, XM_011515754.1:c.1404T>G, 121909005, XM_011515751.1:c.1737T>G, NG_016465.4:g.127018T>A, XM_011515753.1:c.1404T>G, NG_056131.1:g.125=, NG_056131.1:g.125T>A, NG_056131.1:g.125T>C, XP_011514053.1:p.Ser579Arg, XP_011514055.1:p.Ser468Arg, NC_000007.14:g.117587801T>A, NG_016465.4:g.127018=, NC_000007.14:g.117587801T>C, XP_011514056.1:p.Ser468Arg, NC_000007.13:g.117227855T>C, NC_000007.13:g.117227855T>A, NC_000007.14:g.117587801T>G, NC_000007.13:g.117227855T>G, NP_000483.3:p.Ser549=, NG_056131.1:g.125T>G, NG_016465.4:g.127018T>C, NC_000007.14:g.117587801=, NG_056131.3:g.756T>C, XM_011515752.1:c.1737T>G, XP_011514054.1:p.Ser579Arg, NG_016465.4:g.127018T>G, NG_056131.3:g.756T>G, rs121909005, NP_000483.3:p.Ser549Arg, NG_056131.3:g.756T>A +PA166395342 rs121909006 PA109 CFTR NC_000007.14:117590360 0 0 0 0 1 NC_000007.14:g.117590360T>C, NC_000007.14:g.117590360T>A, NC_000007.14:g.117590360=, NC_000007.14:g.117590360T>G, 121909006, NP_000483.3:p.Tyr563Asp, NC_000007.13:g.117230414T>G, NP_000483.3:p.Tyr563Asn, NC_000007.13:g.117230414T>C, NP_000483.3:p.Tyr563=, NG_016465.4:g.129577T>G, NC_000007.13:g.117230414=, NC_000007.13:g.117230414T>A, NP_000483.3:p.Tyr563His, NG_016465.4:g.129577T>A, rs121909006, NG_016465.4:g.129577=, NG_016465.4:g.129577T>C +PA166161188 rs121909011 PA109 CFTR NC_000007.14:117540230 6 3 0 0 0 rs121909011, NC_000007.14:g.117540230=, NC_000007.13:g.117180284=, NP_000483.3:p.Arg334=, NG_016465.4:g.79447=, 121909011, NP_000483.3:p.Arg334Trp, NC_000007.14:g.117540230C>T, NC_000007.13:g.117180284C>T, CFTR:R334W, NG_016465.4:g.79447C>T, 113999123 +PA166157532 rs121909013 PA109 CFTR NC_000007.14:117587805 2 1 1 1 4 rs121909013, XP_011514056.1:p.Gly470Ser, NG_056131.3:g.760G>A, NG_056131.1:g.129G>A, NG_016465.4:g.127022G>A, XM_011515753.1:c.1408G>A, NM_000492.3:c.1651G>A, NC_000007.13:g.117227859=, NC_000007.14:g.117587805G>A, XP_011514055.1:p.Gly470Ser, 121909013, NG_056131.1:g.129=, XM_011515751.1:c.1741G>A, XM_011515752.1:c.1741G>A, NC_000007.14:g.117587805=, NP_000483.3:p.Gly551Ser, XP_011514054.1:p.Gly581Ser, NG_016465.4:g.127022=, NC_000007.13:g.117227859G>A, XP_011514053.1:p.Gly581Ser, NP_000483.3:p.Gly551=, NG_056131.3:g.760=, XM_011515754.1:c.1408G>A +PA166178092 rs121909017 PA109 CFTR NC_000007.14:117559546 1 0 0 0 0 NP_000483.3:p.Ser492=, NC_000007.14:g.117559546C>T, NC_000007.14:g.117559546=, NG_016465.4:g.98763=, 121909017, rs121909017, NG_016465.4:g.98763C>T, NC_000007.13:g.117199600C>T, NP_000483.3:p.Ser492Phe, NC_000007.13:g.117199600= +PA166178049 rs121909019 PA109 CFTR NC_000007.14:117611638 3 2 0 0 1 NG_016465.4:g.150855G>A, NG_056128.2:g.4692=, NP_000483.3:p.Arg1066=, NG_056128.1:g.4692G>T, NG_056128.2:g.4692G>A, NC_000007.13:g.117251692G>T, NG_056128.2:g.4692G>T, NC_000007.13:g.117251692=, NG_056128.1:g.4692G>A, NG_016465.4:g.150855=, 121909019, NP_000483.3:p.Arg1066Leu, NC_000007.14:g.117611638=, NC_000007.14:g.117611638G>A, NP_000483.3:p.Arg1066His, rs121909019, NC_000007.13:g.117251692G>A, NG_056128.1:g.4692=, NG_016465.4:g.150855G>T, R1066H CFTR, NC_000007.14:g.117611638G>T +PA166164953 rs121909020 PA109 CFTR NC_000007.14:117611640 1 1 0 1 3 NG_056128.1:g.4694=, NG_056128.2:g.4694G>C, rs121909020, NP_000483.3:p.Ala1067Pro, NG_056128.2:g.4694G>A, NP_000483.3:p.Ala1067=, NG_056128.1:g.4694G>C, NC_000007.13:g.117251694=, NG_016465.4:g.150857G>A, NG_056128.1:g.4694G>A, NG_016465.4:g.150857=, NG_016465.4:g.150857G>C, 121909020, NP_000483.3:p.Ala1067Thr, NC_000007.14:g.117611640=, NC_000007.13:g.117251694G>C, NC_000007.14:g.117611640G>C, NC_000007.13:g.117251694G>A, NC_000007.14:g.117611640G>A, NG_056128.2:g.4694= +PA166394761 rs121909021 PA109 CFTR NC_000007.14:117540276 0 0 0 0 1 rs121909021, NG_016465.4:g.79493=, NG_016465.4:g.79493C>T, 121909021, NC_000007.13:g.117180330=, NP_000483.3:p.Ala349Val, NC_000007.14:g.117540276C>T, NC_000007.14:g.117540276=, NC_000007.13:g.117180330C>T, NP_000483.3:p.Ala349= +PA166178084 rs121909036 PA109 CFTR NC_000007.14:117611635 1 0 0 0 0 NP_000483.3:p.Leu1065=, NP_000483.3:p.Leu1065Pro, NG_056128.1:g.4689T>G, NG_056128.1:g.4689=, NG_056128.2:g.4689T>G, 121909036, NG_016465.4:g.150852=, NG_056128.2:g.4689T>C, NG_056128.1:g.4689T>C, NC_000007.13:g.117251689=, NC_000007.14:g.117611635=, NP_000483.3:p.Leu1065Arg, NG_056128.2:g.4689=, NC_000007.14:g.117611635T>C, NC_000007.13:g.117251689T>G, NG_016465.4:g.150852T>G, rs121909036, NC_000007.14:g.117611635T>G, NC_000007.13:g.117251689T>C, NG_016465.4:g.150852T>C +PA166157533 rs121909041 PA109 CFTR NC_000007.14:117642483 2 1 1 1 4 NG_016465.4:g.181700T>A, XP_011514054.1:p.Ser1285Pro, NC_000007.13:g.117282537=, XM_011515754.1:c.3520T>C, rs121909041, NC_000007.13:g.117282537T>A, NM_000492.3:c.3763T>C, NC_000007.13:g.117282537T>C, NG_016465.4:g.181700T>C, NP_000483.3:p.Ser1255Pro, XP_011514056.1:p.Ser1174Pro, NC_000007.14:g.117642483T>A, NC_000007.14:g.117642483T>C, XM_011515752.1:c.3853T>C, XM_011515753.1:c.3520T>C, XM_011515751.1:c.3853T>C, NC_000007.14:g.117642483=, NP_000483.3:p.Ser1255Thr, 121909041, NP_000483.3:p.Ser1255=, XP_011514053.1:p.Ser1285Pro, XP_011514055.1:p.Ser1174Pro, NG_016465.4:g.181700= +PA166394862 rs121909044 PA109 CFTR NC_000007.14:117587812 0 0 0 0 1 NC_000007.14:g.117587812G>C, NC_000007.13:g.117227866=, rs121909044, NC_000007.13:g.117227866G>C, NP_000483.3:p.Arg553=, NG_056131.3:g.767=, NC_000007.13:g.117227866G>A, NP_000483.3:p.Arg553Pro, NP_000483.3:p.Arg553Gln, NC_000007.14:g.117587812=, NG_016465.4:g.127029G>A, NG_016465.4:g.127029G>C, 121909044, NG_056131.3:g.767G>C, NG_056131.3:g.767G>A, NG_016465.4:g.127029=, NC_000007.14:g.117587812G>A +PA166178088 rs121909047 PA109 CFTR NC_000007.14:117590355 5 3 0 0 0 NC_000007.13:g.117230409C>A, NC_000007.14:g.117590355=, NP_000483.3:p.Ala561=, NG_016465.4:g.129572=, 121909047, rs121909047, NC_000007.14:g.117590355C>A, NC_000007.13:g.117230409=, NG_016465.4:g.129572C>A, NP_000483.3:p.Ala561Glu +PA166155141 rs121912777 PA107 CES1 NC_000016.10:55823661 1 0 0 0 0 NP_001020365.1:p.Gly142Glu, rs121912777, XM_011546995.1:c.428G>A, NM_001266.4:c.425G>C, NP_001257.4:p.Gly142Val, NC_000016.10:g.55823661C>A, NM_001266.4:c.425G>A, NP_001020365.1:p.Gly142Val, XP_011521118.1:p.Gly143Glu, NP_001257.4:p.Gly142Ala, NC_000016.10:g.55823661C>G, XM_011546995.1:c.428G>C, NC_000016.10:g.55823661C>T, 121912777, XP_011521118.1:p.Gly143Val, NM_001025194.1:c.425G>T, XM_011522816.1:c.428G>T, XM_011546995.1:c.428G>T, XM_005276867.1:c.428G>A, XM_005255774.1:c.428G>A, XP_011521118.1:p.Gly143Ala, XM_005255774.1:c.428G>C, XM_005255774.1:c.428G>T, NM_001025194.1:c.425G>A, XM_011522816.1:c.428G>A, XM_011522816.1:c.428G>C, NM_001025194.1:c.425G>C, NM_001266.4:c.425G>T, NC_000016.9:g.55857573=, XM_005276867.1:c.428G>T, XP_005276924.1:p.Gly143Ala, NP_001020366.1:p.Gly143Glu, NG_012057.1:g.14503G>T, XP_005255831.1:p.Gly143Ala, XP_011545297.1:p.Gly143Glu, XM_005276867.1:c.428G>C, NG_012057.1:g.14503G>C, NP_001020366.1:p.Gly143Val, NG_012057.1:g.14503G>A, XP_005276924.1:p.Gly143Glu, NM_001025195.1:c.428G>C, NW_003315945.1:g.47539C>A, XP_011545297.1:p.Gly143Val, NP_001020365.1:p.Gly142Ala, XP_005255831.1:p.Gly143Val, NC_000016.9:g.55857573C>T, NM_001025195.1:c.428G>A, NP_001020366.1:p.Gly143Ala, NP_001257.4:p.Gly142=, XP_005255831.1:p.Gly143Glu, NM_001025195.1:c.428G>T, NW_003315945.1:g.47539C>T, NP_001257.4:p.Gly142Glu, NG_012057.1:g.14503=, NC_000016.9:g.55857573C>A, NW_003315945.1:g.47539C>G, NC_000016.10:g.55823661=, NC_000016.9:g.55857573C>G, XP_005276924.1:p.Gly143Val, XP_011545297.1:p.Gly143Ala +PA166157848 rs121913459 PA24413 ABL1 NC_000009.12:130872896 4 0 0 0 3 NG_012034.1:g.164016C>T, rs121913459, NC_000009.12:g.130872896C>T, NM_005157.5:c.944C>T, NP_005148.2:p.Thr315=, XP_005272234.1:p.Thr333Ile, NC_000009.12:g.130872896=, XM_005272177.1:c.998C>T, NC_000009.11:g.133748283=, NP_005148.2:p.Thr315Ile, NM_007313.2:c.1001C>T, 121913459, NP_009297.2:p.Thr334Ile, NG_012034.1:g.164016=, NC_000009.11:g.133748283C>T +PA166293901 rs121913499 PA29630 IDH1 NC_000002.12:208248389 0 0 0 0 1 rs121913499, NG_023319.2:g.22686C>A, NC_000002.12:g.208248389G>T, NC_000002.11:g.209113113G>T, NC_000002.11:g.209113113=, NP_005887.2:p.Arg132Ser, NC_000002.11:g.209113113G>A, NG_023319.2:g.22686C>T, NC_000002.12:g.208248389G>A, NC_000002.12:g.208248389=, NG_023319.2:g.22686=, NC_000002.12:g.208248389G>C, NC_000002.11:g.209113113G>C, NP_005887.2:p.Arg132Cys, NP_005887.2:p.Arg132=, NG_023319.2:g.22686C>G, 121913499, 121913501, NP_005887.2:p.Arg132Gly +PA166182713 rs121913500 PA29630 IDH1 NC_000002.12:208248388 0 0 0 0 1 rs121913500, NC_000002.12:g.208248388C>T, NP_005887.2:p.Arg132Pro, NC_000002.11:g.209113112C>A, NG_023319.2:g.22687G>T, NC_000002.11:g.209113112=, NC_000002.12:g.208248388C>A, NC_000002.11:g.209113112C>G, NG_023319.2:g.22687=, NC_000002.12:g.208248388C>G, NC_000002.12:g.208248388=, NP_005887.2:p.Arg132=, NP_005887.2:p.Arg132Leu, NP_005887.2:p.Arg132His, NG_023319.2:g.22687G>C, NG_023319.2:g.22687G>A, 121913500, NC_000002.11:g.209113112C>T +PA166156700 rs121913512 PA30128 KIT NC_000004.12:54728055 1 0 0 0 0 NG_007456.1:g.75061A>G, NC_000004.12:g.54728055=, XP_005265798.1:p.Lys643Glu, NG_007456.1:g.75061A>C, NM_000222.2:c.1924A>G, XM_005265740.1:c.1927A>G, NP_000213.1:p.Lys642Gln, XM_005265741.1:c.1927A>G, XM_005265742.1:c.1915A>G, NP_000213.1:p.Lys642Glu, NC_000004.12:g.54728055A>C, NC_000004.11:g.55594221=, rs121913512, XP_005265797.1:p.Lys643Glu, NC_000004.11:g.55594221A>C, NG_007456.1:g.75061=, NP_000213.1:p.Lys642=, rs121913691, NC_000004.12:g.54728055A>G, NP_001087241.1:p.Lys638Glu, NC_000004.11:g.55594221A>G, XP_005265799.1:p.Lys639Glu, 121913691, NM_001093772.1:c.1912A>G, 121913512 +PA166154665 rs121913529 PA30196 KRAS NC_000012.12:25245350 1 0 0 0 0 NP_203524.1:p.Gly12Ala, XM_011520653.1:c.35G>T, NC_000012.11:g.25398284C>G, NC_000012.11:g.25398284C>A, XP_006719132.1:p.Gly12Asp, NG_007524.1:g.10571G>T, XP_005253422.1:p.Gly12Asp, NP_004976.2:p.Gly12Ala, NC_000012.11:g.25398284C>T, NG_007524.1:g.10571=, NP_004976.2:p.Gly12Val, NC_000012.11:g.25398284=, NM_004985.4:c.35G>C, XP_006719132.1:p.Gly12Ala, NM_004985.4:c.35G>A, XP_005253422.1:p.Gly12Ala, XP_005253422.1:p.Gly12Val, XM_005253365.1:c.35G>C, NP_203524.1:p.Gly12Val, NM_004985.4:c.35G>T, XM_005253365.1:c.35G>A, NG_007524.2:g.10654=, NG_007524.1:g.10571G>A, NG_007524.1:g.10571G>C, 121913531, NP_004976.2:p.Gly12Asp, 121913534, XM_006719069.2:c.35G>T, XM_005253365.1:c.35G>T, 121913529, NC_000012.12:g.25245350C>A, NM_033360.3:c.35G>T, NC_000012.12:g.25245350=, NG_007524.2:g.10654G>T, NC_000012.12:g.25245350C>T, XM_006719069.2:c.35G>C, XP_006719132.1:p.Gly12Val, XP_011518955.1:p.Gly12Ala, NM_033360.3:c.35G>A, NM_033360.3:c.35G>C, XP_011518955.1:p.Gly12Val, NG_007524.2:g.10654G>A, rs121913529, XM_006719069.2:c.35G>A, NC_000012.12:g.25245350C>G, NG_007524.2:g.10654G>C, rs121913534, NP_004976.2:p.Gly12=, XM_011520653.1:c.35G>C, XM_011520653.1:c.35G>A, rs121913531, NP_203524.1:p.Gly12Asp, XP_011518955.1:p.Gly12Asp +PA166165415 rs121913530 PA30196 KRAS NC_000012.12:25245351 0 0 0 0 5 NC_000012.11:g.25398285=, NG_007524.1:g.10570G>T, NC_000012.12:g.25245351C>A, NP_004976.2:p.Gly12=, NC_000012.12:g.25245351=, NC_000012.11:g.25398285C>G, NG_007524.2:g.10653G>T, NC_000012.11:g.25398285C>A, rs121913530, NC_000012.12:g.25245351C>T, NG_007524.1:g.10570G>C, 121913530, NG_007524.1:g.10570G>A, NP_004976.2:p.Gly12Arg, NP_004976.2:p.Gly12Cys, NG_007524.2:g.10653=, NG_007524.1:g.10570=, 121913532, NC_000012.12:g.25245351C>G, NG_007524.2:g.10653G>C, NP_004976.2:p.Gly12Ser, 121913533, NC_000012.11:g.25398285C>T, NG_007524.2:g.10653G>A +PA166155543 rs121918592 PA34896 RYR1 NC_000019.10:38448712 29 1 1 1 0 NP_000531.2:p.Gly341=, NM_001042723.1:c.1021G>A, NM_001042723.1:c.1021G>C, NG_008866.1:g.20013G>C, NC_000019.9:g.38939352=, rs28933997, NC_000019.10:g.38448712=, NG_008866.1:g.20013=, NC_000019.10:g.38448712G>A, XP_011525507.1:p.Gly341Arg, NG_008866.1:g.20013G>A, NC_000019.9:g.38939352G>C, XM_011527205.1:c.1021G>C, XP_011525506.1:p.Gly340Arg, NC_000019.9:g.38939352G>A, XM_011527205.1:c.1021G>A, NP_000531.2:p.Gly341Arg, 28933997, 121918592, NC_000019.10:g.38448712G>C, XM_011527204.1:c.1018G>A, NP_001036188.1:p.Gly341Arg, XM_011527204.1:c.1018G>C, XM_006723319.1:c.1021G>C, XM_006723317.1:c.1021G>A, XM_006723319.1:c.1021G>A, rs121918592, NM_000540.2:c.1021G>A, XP_006723382.1:p.Gly341Arg, NM_000540.2:c.1021G>C, XM_006723317.1:c.1021G>C, XP_006723380.1:p.Gly341Arg +PA166155544 rs121918593 PA34896 RYR1 NC_000019.10:38499993 35 1 1 1 0 NC_000019.10:g.38499993=, NC_000019.9:g.38990633G>A, NC_000019.9:g.38990633=, NG_008866.1:g.71294=, XP_011525507.1:p.Gly2434Arg, 121918593, XM_006723319.1:c.7300G>A, NM_001042723.1:c.7300G>A, NC_000019.10:g.38499993G>A, NG_008866.1:g.71294G>A, XM_006723317.1:c.7300G>A, XM_011527205.1:c.7300G>A, XP_011525506.1:p.Gly2433Arg, rs121918593, NM_000540.2:c.7300G>A, XM_011527204.1:c.7297G>A, XP_006723380.1:p.Gly2434Arg, NP_001036188.1:p.Gly2434Arg, XP_006723382.1:p.Gly2434Arg, NP_000531.2:p.Gly2434=, NP_000531.2:p.Gly2434Arg +PA166155545 rs121918594 PA34896 RYR1 NC_000019.10:38500655 9 1 0 1 0 NC_000019.10:g.38500655G>A, NG_008866.1:g.71956G>T, XP_011525507.1:p.Arg2458His, XM_011527204.1:c.7370G>A, XM_006723319.1:c.7373G>A, NM_000540.2:c.7373G>A, NP_000531.2:p.Arg2458Leu, NP_000531.2:p.Arg2458=, XM_006723317.1:c.7373G>A, XM_011527205.1:c.7373G>A, NP_000531.2:p.Arg2458His, NG_008866.1:g.71956G>A, 121918594, XP_006723382.1:p.Arg2458His, NC_000019.9:g.38991295G>A, NC_000019.9:g.38991295=, NM_001042723.1:c.7373G>A, XP_006723380.1:p.Arg2458His, XP_011525506.1:p.Arg2457His, NC_000019.10:g.38500655G>T, NC_000019.10:g.38500655=, NC_000019.9:g.38991295G>T, rs121918594, NG_008866.1:g.71956=, NP_001036188.1:p.Arg2458His +PA166155546 rs121918595 PA34896 RYR1 NC_000019.10:38580094 6 1 1 1 0 XP_006723380.1:p.Thr4820Ile, XP_006723382.1:p.Thr4815Ile, NM_000540.2:c.14477C>T, NG_008866.1:g.151395=, XP_011525507.1:p.Thr4797Ile, XM_006723319.1:c.14444C>T, XP_011525506.1:p.Thr4825Ile, NP_000531.2:p.Thr4826=, rs121918595, XM_006723317.1:c.14459C>T, XM_011527204.1:c.14474C>T, NC_000019.9:g.39070734=, NG_008866.1:g.151395C>T, NP_001036188.1:p.Thr4821Ile, NC_000019.9:g.39070734C>T, NP_000531.2:p.Thr4826Ile, NC_000019.10:g.38580094C>T, NC_000019.10:g.38580094=, 121918595, XM_011527205.1:c.14390C>T, NM_001042723.1:c.14462C>T +PA166177994 rs121918596 PA34896 RYR1 NC_000019.10:38499646_38499648 3 1 1 1 0 NC_000019.9:g.38990286_38990288GAG[1], rs121918596, NC_000019.10:g.38499645_38499651=, NP_000531.2:p.Val2346_Glu2348=, NP_000531.2:p.Glu2348del, NC_000019.10:g.38499646_38499648delGAG, 758046764, NG_008866.1:g.70946_70952=, NC_000019.9:g.38990285_38990291=, 121918596, NG_008866.1:g.70947_70949GAG[1], 193922800, NC_000019.10:g.38499646_38499648GAG[1] +PA166161857 rs12191877 NC_000006.12:31285148 1 1 0 0 0 12191877, 114395371, rs12191877, NC_000006.12:g.31285148C>T, NC_000006.11:g.31252925C>T, 117596577, 56648064, NC_000006.12:g.31285148=, NC_000006.11:g.31252925= +PA166157176 rs12195350 NC_000006.12:43397622 1 0 0 0 0 NC_000006.11:g.43365360A>G, rs56694787, 56694787, NC_000006.12:g.43397622A>G, 12195350, XR_926815.1:n.486A>G, NC_000006.11:g.43365360=, XR_926814.1:n.486A>G, rs386523225, 386523225, rs12195350, NC_000006.12:g.43397622= +PA166153967 rs1219648 PA28128 FGFR2 NC_000010.11:121586676 1 0 0 0 0 NC_000010.10:g.123346190=, rs45631585, NC_000010.10:g.123346190A>T, NM_023029.2:c.109+7033T>C, NC_000010.11:g.121586676A>T, NC_000010.10:g.123346190A>G, NM_001144914.1:c.109+7033T>C, NM_001144917.1:c.109+7033T>C, XM_006717712.2:c.166+7033T>C, NM_001144913.1:c.109+7033T>C, NC_000010.11:g.121586676=, rs57056483, XM_006717708.2:c.166+7033T>C, NM_001144919.1:c.109+7033T>C, NG_012449.2:g.16783=, NM_000141.4:c.109+7033T>C, NM_001144916.1:c.109+7033T>C, XM_006717711.2:c.166+7033T>C, XM_006717709.2:c.166+7033T>C, rs1219648, 1219648, 57056483, NM_001144915.1:c.109+7033T>C, XM_006717710.2:c.166+7033T>C, NM_001144918.1:c.109+7033T>C, NR_073009.1:n.756+7033T>C, XM_006717713.2:c.166+7033T>C, NG_012449.2:g.16783T>C, NG_012449.2:g.16783T>A, 45631585, NC_000010.11:g.121586676A>G, NM_022970.3:c.109+7033T>C, NG_012449.1:g.16783T>C +PA166157688 rs121964923 PA146 DPYS NC_000008.11:104428071 1 0 0 0 0 XM_006716518.2:c.842A>G, XM_011516903.1:c.1001A>G, XM_011516904.1:c.1001A>G, NC_000008.10:g.105440299=, XP_011515206.1:p.Gln334Arg, NP_001376.1:p.Gln334Arg, NG_008840.2:g.43979A>G, NM_001385.2:c.1001A>G, XP_006716581.1:p.Gln281Arg, NP_001376.1:p.Gln334=, XP_005250875.1:p.Gln334Arg, XM_005250818.2:c.1001A>G, NC_000008.11:g.104428071=, rs121964923, NG_008840.1:g.43979=, 121964923, XP_011515205.1:p.Gln334Arg, XR_928508.1:n.-58T>C, NC_000008.11:g.104428071T>C, NG_008840.2:g.43979=, NC_000008.10:g.105440299T>C, XM_005250818.1:c.1001A>G, XM_005250819.1:c.1001A>G, XP_005250876.1:p.Gln334Arg, NG_008840.1:g.43979A>G +PA166266961 rs12199316 PA134916338 NHLRC1 NC_000006.12:18123271 1 0 0 0 0 NC_000006.12:g.18123271=, 12199316, NG_016750.1:g.4350=, rs12199316, 58918310, NC_000006.11:g.18123502=, NC_000006.11:g.18123502C>G, NG_016750.1:g.4350G>C, NC_000006.12:g.18123271C>G +PA166157177 rs12201199 PA356 TPMT NC_000006.12:18139571 12 2 0 0 0 12201199, NM_000367.3:c.419+94T>A, XM_011514839.1:c.419+94T>A, NC_000006.12:g.18139571A>T, rs58109747, rs12201199, NC_000006.11:g.18139802=, 58109747, NC_000006.11:g.18139802A>T, NG_012137.2:g.20573=, XM_011514840.1:c.350+94T>A, NG_012137.2:g.20573T>A, NC_000006.12:g.18139571= +PA166180104 rs12205732 PA31945 OPRM1 NC_000006.12:154037798 3 0 0 0 0 12205732, NC_000006.12:g.154037798G>A, rs12205732, 61644755, NG_021208.2:g.32298=, NG_021208.2:g.32298G>A, NC_000006.12:g.154037798=, NC_000006.11:g.154358933G>A, NC_000006.11:g.154358933=, 17180975 +PA166157178 rs12208357 PA329 SLC22A1 NC_000006.12:160122116 26 2 0 0 0 NC_000006.12:g.160122116C>T, XM_005267105.1:c.-485C>T, XP_005267159.1:p.Arg61Cys, XP_006715615.1:p.Arg61Cys, NP_694857.1:p.Arg61Cys, XM_005267102.3:c.181C>T, rs12208357, XM_005267105.3:c.-485C>T, XM_005267103.1:c.181C>T, NC_000006.11:g.160543148C>T, rs56982873, NC_000006.12:g.160122116=, NP_003048.1:p.Arg61=, NM_003057.2:c.181C>T, NM_153187.1:c.181C>T, NC_000006.11:g.160543148=, XM_006715552.1:c.181C>T, XM_011536074.1:c.-895C>T, XP_005267160.1:p.Arg61Cys, 56982873, NP_003048.1:p.Arg61Cys, 12208357, XM_005267102.1:c.181C>T +PA166177787 rs12209447 PA31945 OPRM1 NC_000006.12:154039913 1 1 0 0 0 17181031, NC_000006.11:g.154361048=, NC_000006.12:g.154039913C>T, NG_021208.2:g.34413=, rs12209447, NC_000006.11:g.154361048C>T, NC_000006.12:g.154039913=, 12209447, NG_021208.2:g.34413C>T +PA166157179 rs12210538 PA134911502 SLC22A16 NC_000006.12:110438805 3 1 0 0 0 NC_000006.11:g.110760008A>G, XM_011536206.1:c.944T>C, XM_005267183.1:c.1130T>C, rs386523325, XP_011534507.1:p.Met409Thr, NM_033125.3:c.1226T>C, XM_011536208.1:c.836T>C, XM_005267185.1:c.764T>C, XP_011534514.1:p.Met179Thr, XM_005267184.1:c.716T>C, 386523325, XM_011536205.1:c.1226T>C, NC_000006.12:g.110438805=, 17494155, XP_005267241.1:p.Met239Thr, rs12210538, NP_149116.2:p.Met409Thr, XM_011536212.1:c.536T>C, XM_005267184.2:c.716T>C, XM_011536207.1:c.872T>C, XP_005267242.1:p.Met255Thr, XM_011536209.1:c.821T>C, XP_011534510.1:p.Met279Thr, 12210538, XP_011534511.1:p.Met274Thr, XP_005267240.1:p.Met377Thr, NC_000006.11:g.110760008=, XM_011536204.1:c.1097T>C, rs17494155, XP_011534506.1:p.Met366Thr, NC_000006.12:g.110438805A>G, XP_011534509.1:p.Met291Thr, XP_011534508.1:p.Met315Thr, XM_011536210.1:c.1184-2844T>C, XM_011536211.1:c.746T>C, XP_011534513.1:p.Met249Thr, NP_149116.2:p.Met409= +PA166180102 rs12210856 PA31945 OPRM1 NC_000006.12:154036851 1 0 0 0 0 NC_000006.12:g.154036851T>G, rs12210856, 12210856, NC_000006.12:g.154036851=, NG_021208.2:g.31351T>G, NG_021208.2:g.31351=, NC_000006.11:g.154357986=, NC_000006.11:g.154357986T>G +PA166157180 rs12211463 NC_000006.12:92757440 1 0 0 0 0 NC_000006.11:g.93467158=, NC_000006.12:g.92757440T>G, NC_000006.12:g.92757440=, 59764123, rs59764123, 12211463, rs12211463, NC_000006.11:g.93467158T>G +PA166154461 rs12221497 PA31751 NR1H3 NC_000011.10:47259102 1 1 0 0 0 NM_001251935.1:c.62-689G>A, 59819109, XM_006718114.2:c.-115G>A, XM_005252716.1:c.-92-689G>A, XM_011519806.1:c.-92-689G>A, XM_005252715.2:c.-37-78G>A, XM_005252711.1:c.-597G>A, XM_005252712.1:c.-37-78G>A, XM_005252715.1:c.-37-78G>A, XM_011519805.1:c.-37-78G>A, rs12221497, rs59819109, XM_005252713.1:c.-37-78G>A, NC_000011.9:g.47280653G>A, NM_001130101.2:c.-37-78G>A, XM_005252705.1:c.-37-78G>A, XM_005252713.2:c.-37-78G>A, XM_005252717.1:c.-97-684G>A, XM_006718113.1:c.-37-78G>A, XM_011519807.1:c.-92-689G>A, NC_000011.10:g.47259102=, NG_030392.1:g.15803G>A, 12221497, NM_001251934.1:c.62-689G>A, XM_005252710.1:c.-177-78G>A, XM_011519808.1:c.-137-2139G>A, XM_005252718.2:c.-92-689G>A, XM_005252709.1:c.-177-78G>A, XM_005252704.1:c.95-689G>A, NC_000011.10:g.47259102G>A, XM_005252718.1:c.-92-689G>A, XM_005252707.3:c.-115G>A, XM_005252714.1:c.95-689G>A, NM_001130102.2:c.-92-689G>A, XM_006718115.1:c.-177-78G>A, NG_030392.1:g.15803=, NM_005693.3:c.-37-78G>A, XM_005252707.1:c.-115G>A, XM_005252708.1:c.95-689G>A, XM_006718112.1:c.-37-78G>A, NC_000011.9:g.47280653=, XM_005252706.1:c.-37-78G>A, XM_006718116.1:c.-92-689G>A, XM_005252716.2:c.-92-689G>A +PA166178369 rs12231740 PA35819 SLC16A7 NC_000012.12:59710259 1 0 0 0 0 57781888, NC_000012.11:g.60104040C>T, 386523385, NC_000012.11:g.60104040=, NC_000012.12:g.59710259=, NC_000012.12:g.59710259C>T, 12231740, 17648466, rs12231740 +PA166156658 rs12233719 PA361 UGT2B7 NC_000004.12:69096731 9 1 0 0 0 NP_001065.2:p.Ala71Thr, rs58730779, NM_001074.2:c.211G>T, NC_000004.12:g.69096731G>A, XM_011532231.1:c.-26-1809G>T, rs52806684, NP_001065.2:p.Ala71=, rs12233719, 58730779, NC_000004.11:g.69962449=, NC_000004.12:g.69096731=, XM_011532230.1:c.211G>T, XM_005265702.1:c.-26-1809G>T, XP_011530531.1:p.Ala71Ser, XP_011530532.1:p.Ala71Ser, 12233719, NC_000004.11:g.69962449G>T, NC_000004.12:g.69096731G>T, NP_001065.2:p.Ala71Ser, XM_011532229.1:c.211G>T, 52806684, NP_001065.2:p.Ala71Pro, NC_000004.12:g.69096731G>C, NC_000004.11:g.69962449G>C, XM_005265702.2:c.-26-1809G>T, NC_000004.11:g.69962449G>A +PA166154144 rs12243326 PA36394 TCF7L2 NC_000010.11:113029056 1 0 0 0 0 XM_005270085.1:c.451-10969T>C, NM_001198527.1:c.382-10969T>C, XM_005270077.1:c.451-10969T>C, XM_011540118.1:c.451-10969T>C, XM_005270093.1:c.451-10969T>C, NM_001146286.1:c.382-10969T>C, NM_001146274.1:c.451-10969T>C, NM_001198526.1:c.382-10969T>C, XM_005270080.1:c.382-10969T>C, XM_005270089.1:c.382-10969T>C, XM_005270084.1:c.451-10969T>C, XM_011540117.1:c.451-10969T>C, 60689663, XM_005270094.1:c.451-10969T>C, XM_005270081.1:c.382-10969T>C, NM_001198525.1:c.382-10969T>C, XM_005270076.1:c.451-10969T>C, XM_011540109.1:c.451-10969T>C, 12243326, XM_005270102.1:c.451-10969T>C, XM_005270091.1:c.451-10969T>C, 17685444, NM_001198529.1:c.382-10969T>C, XM_005270096.1:c.451-10969T>C, rs60689663, NM_001146284.1:c.382-10969T>C, NM_001198530.1:c.381+77449T>C, NM_030756.4:c.382-10969T>C, XM_011540115.1:c.451-10969T>C, XM_005270075.1:c.451-10969T>C, XM_005270103.1:c.382-10969T>C, XM_011540111.1:c.382-10969T>C, XM_005270078.1:c.451-10969T>C, XM_005270101.1:c.382-10969T>C, XM_011540112.1:c.451-10969T>C, XM_005270087.1:c.382-10969T>C, XM_005270091.2:c.451-10969T>C, XM_005270090.1:c.381+77449T>C, XM_005270083.1:c.451-10969T>C, NM_001198531.1:c.451-10969T>C, NG_012631.1:g.83807=, XM_011540113.1:c.451-10969T>C, rs12243326, NC_000010.10:g.114788815T>C, XM_005270071.1:c.451-10969T>C, XM_005270073.1:c.451-10969T>C, XM_005270100.1:c.451-10969T>C, XM_006717956.2:c.-9-10969T>C, NM_001146283.1:c.382-10969T>C, XM_011540114.1:c.451-10969T>C, XM_005270086.1:c.382-10969T>C, XM_005270104.1:c.382-10969T>C, XM_011540110.1:c.382-10969T>C, rs17685444, NC_000010.10:g.114788815=, XM_005270072.1:c.451-10969T>C, XM_005270088.1:c.382-10969T>C, XM_005270079.1:c.451-10969T>C, XM_005270082.1:c.451-10969T>C, NM_001198528.1:c.382-10969T>C, XM_011540119.1:c.451-10969T>C, NC_000010.11:g.113029056=, XM_005270092.1:c.451-10969T>C, XM_005270095.1:c.451-10969T>C, NM_001146285.1:c.382-10969T>C, NC_000010.11:g.113029056T>C, XM_011540116.1:c.451-10969T>C, NG_012631.1:g.83807T>C, XM_005270074.1:c.451-10969T>C +PA166181121 rs12245847 PA88 CACNB2 NC_000010.11:18249730 1 0 0 0 0 12245847, NG_016195.1:g.114054=, rs12245847, NC_000010.11:g.18249730T>A, NC_000010.11:g.18249730=, NC_000010.10:g.18538659T>A, NC_000010.11:g.18249730T>C, NG_016195.1:g.114054T>C, NC_000010.10:g.18538659=, NC_000010.10:g.18538659T>C, NG_016195.1:g.114054T>A +PA166154145 rs12246528 PA26448 CHAT NC_000010.11:49627218 1 0 0 0 0 rs61498554, rs12246528, NM_020984.3:c.580-390G>A, NC_000010.11:g.49627218G>A, NC_000010.11:g.49627218=, NM_020986.3:c.580-390G>A, NM_001142934.1:c.580-390G>A, 12246528, NG_011797.1:g.23124=, NM_001142933.1:c.688-390G>A, NM_020985.3:c.580-390G>A, 61498554, NM_001142929.1:c.580-390G>A, NC_000010.10:g.50835264G>A, NC_000010.10:g.50835264=, NG_011797.1:g.23124G>A, NM_020549.4:c.934-390G>A +PA166154146 rs12248467 PA33777 PRKG1 NC_000010.11:52170778 1 0 0 0 0 NG_029982.1:g.1184628G>A, NC_000010.10:g.53930538=, NC_000010.11:g.52170778=, XM_005269970.1:c.1076+8815G>A, rs12248467, XM_011539952.1:c.1076+8815G>A, NC_000010.11:g.52170778G>A, XM_005269971.1:c.791+8815G>A, NG_029982.1:g.1184628=, NC_000010.10:g.53930538G>A, XM_005269972.1:c.227+8815G>A, XM_005269972.3:c.227+8815G>A, NM_006258.3:c.1076+8815G>A, 12248467, NM_001098512.2:c.1031+8815G>A +PA166154147 rs12248560 PA124 CYP2C19 NC_000010.11:94761900 294 25 21 0 0 NC_000010.11:g.94761900C>T, 12248560, NG_008384.3:g.4220=, NG_055436.1:g.1260C>A, NG_008384.2:g.4195C>T, NG_055436.1:g.1260=, CYP2C19*17, NM_000769.2:c.-806C>T, 117093607, 17879736, NG_008384.3:g.4220C>T, NC_000010.10:g.96521657C>T, rs117093607, 17442305, NC_000010.11:g.94761900=, NC_000010.10:g.96521657=, NC_000010.11:g.94761900C>A, rs17879736, NG_055436.1:g.1260C>T, rs12248560, NC_000010.10:g.96521657C>A, NG_008384.3:g.4220C>A, rs17442305 +PA166209621 rs12252 PA29655 IFITM3 NC_000011.10:320772 1 0 0 0 0 rs12252, NC_000011.9:g.320772=, NP_066362.2:p.Ser14=, 17857973, 12252, NG_032755.1:g.5143T>C, 1059734, 17852007, 56885004, NG_032755.1:g.5143=, NC_000011.10:g.320772A>G, NC_000011.10:g.320772=, NC_000011.9:g.320772A>G, 11539512 +PA166180969 rs1225367412 PA85 CACNA1S NC_000001.11:201073615_201073620 1 0 0 0 0 NC_000001.11:g.201073615_201073617CTC[1], rs1225367412, NC_000001.10:g.201042743_201042748=, NG_009816.2:g.43947_43949GAG[1], NG_009816.1:g.43947_43949GAG[1], NC_000001.11:g.201073615_201073620=, NC_000001.10:g.201042743_201042745CTC[1], NP_000060.2:p.Glu696_Glu697=, 1225367412, NG_009816.1:g.43947_43952=, NG_009816.2:g.43947_43952= +PA166154148 rs12255372 PA36394 TCF7L2 NC_000010.11:113049143 4 1 0 0 0 XM_011540112.1:c.552+9017G>T, XM_005270088.1:c.483+9017G>T, XM_011540115.1:c.552+9017G>T, rs12255372, XM_005270096.1:c.552+9017G>T, XM_005270100.1:c.552+9017G>T, rs61466944, NC_000010.11:g.113049143G>T, NC_000010.10:g.114808902=, XM_005270093.1:c.552+9017G>T, XM_006717956.2:c.93+9017G>T, NM_001146285.1:c.483+9017G>T, XM_005270075.1:c.552+9017G>T, XM_011540118.1:c.552+9017G>T, XM_005270072.1:c.552+9017G>T, NG_012631.1:g.103894G>A, XM_005270078.1:c.552+9017G>T, NM_001198530.1:c.382-92041G>T, XM_005270076.1:c.552+9017G>T, NC_000010.11:g.113049143G>A, XM_011540119.1:c.552+9017G>T, NM_001198527.1:c.483+9017G>T, NM_001146284.1:c.483+9017G>T, XM_005270079.1:c.552+9017G>T, XM_011540116.1:c.552+9017G>T, XM_005270073.1:c.552+9017G>T, XM_005270085.1:c.552+9017G>T, NC_000010.10:g.114808902G>A, XM_005270082.1:c.552+9017G>T, XM_005270103.1:c.483+9017G>T, XM_011540111.1:c.483+9017G>T, XM_011540113.1:c.552+9017G>T, NM_030756.4:c.483+9017G>T, NM_001198531.1:c.552+9017G>T, XM_005270102.1:c.552+9017G>T, XM_005270084.1:c.552+9017G>T, NM_001198526.1:c.483+9017G>T, XM_005270091.1:c.552+9017G>T, XM_005270077.1:c.552+9017G>T, NM_001198529.1:c.483+9017G>T, NM_001146274.1:c.552+9017G>T, XM_005270080.1:c.483+9017G>T, NM_001146283.1:c.483+9017G>T, XM_011540117.1:c.552+9017G>T, NM_001146286.1:c.483+9017G>T, XM_011540110.1:c.483+9017G>T, XM_005270086.1:c.483+9017G>T, XM_005270089.1:c.483+9017G>T, XM_005270094.1:c.552+9017G>T, XM_011540109.1:c.552+9017G>T, XM_005270101.1:c.483+9017G>T, NC_000010.10:g.114808902G>T, XM_005270104.1:c.483+9017G>T, 61466944, NG_012631.1:g.103894G>T, NC_000010.11:g.113049143=, XM_005270090.1:c.382-92041G>T, XM_005270071.1:c.552+9017G>T, XM_005270091.2:c.552+9017G>T, XM_011540114.1:c.552+9017G>T, NM_001198525.1:c.483+9017G>T, XM_005270074.1:c.552+9017G>T, NM_001198528.1:c.483+9017G>T, XM_005270083.1:c.552+9017G>T, XM_005270081.1:c.483+9017G>T, 12255372, NG_012631.1:g.103894=, XM_005270087.1:c.483+9017G>T, XM_005270092.1:c.552+9017G>T, XM_005270095.1:c.552+9017G>T +PA166313061 rs1226205448 PA130 CYP3A4 NC_000007.14:99784078 1 0 0 0 0 NC_000007.13:g.99381701C>T, 1226205448, NC_000007.14:g.99784078C>T, NG_054901.1:g.47=, rs1226205448, NC_000007.14:g.99784078=, NG_054901.1:g.47C>T, NP_059488.2:p.Ala2=, NP_059488.2:p.Ala2Thr, NC_000007.13:g.99381701=, NG_008421.1:g.5108=, NG_008421.1:g.5108G>A +PA166154149 rs12264845 PA26448 CHAT NC_000010.11:49655037 1 0 0 0 0 NC_000010.11:g.49655037A>T, NM_020984.3:c.1281-58A>C, NC_000010.11:g.49655037=, NC_000010.10:g.50863083A>T, NG_011797.1:g.50943A>T, NM_020549.4:c.1635-58A>C, NM_020986.3:c.1281-58A>C, rs12264845, NM_001142934.1:c.1281-58A>C, NM_020985.3:c.1281-58A>C, NC_000010.10:g.50863083A>C, NG_011797.1:g.50943A>C, NG_011797.1:g.50943=, NM_001142929.1:c.1281-58A>C, NC_000010.10:g.50863083=, NM_001142933.1:c.1389-58A>C, 12264845, NC_000010.11:g.49655037A>C +PA166154150 rs12266458 PA26448 CHAT NC_000010.11:49639951 1 0 0 0 0 NM_020985.3:c.758-6554C>T, NM_001142929.1:c.758-6554C>T, NC_000010.10:g.50847997=, NG_011797.1:g.35857C>G, NM_020984.3:c.758-6554C>T, rs57653614, NC_000010.10:g.50847997C>G, NM_020986.3:c.758-6554C>T, NC_000010.11:g.49639951=, NM_001142934.1:c.758-6554C>T, rs12266458, NC_000010.11:g.49639951C>G, 12266458, NC_000010.10:g.50847997C>T, NG_011797.1:g.35857C>T, NM_001142933.1:c.866-6554C>T, NG_011797.1:g.35857=, 57653614, NC_000010.11:g.49639951C>T, NM_020549.4:c.1112-6554C>T +PA166154462 rs12279250 PA31552 NELL1 NC_000011.10:21543533 1 0 0 0 0 56614357, XM_011520119.1:c.829+9019T>C, NG_047064.1:g.878983=, rs12279250, XM_005252940.1:c.1615+9019T>C, NM_001288714.1:c.1615+9019T>C, rs56614357, NM_201551.2:c.1646-16656T>C, NC_000011.10:g.21543533T>C, 58741264, NC_000011.9:g.21565079=, rs58741264, NC_000011.10:g.21543533=, XM_005252939.1:c.1870+9019T>C, NC_000011.9:g.21565079T>C, NM_001288713.1:c.1870+9019T>C, NM_006157.4:c.1786+9019T>C, 12279250, NG_047064.1:g.878983T>C +PA166285621 rs12283870 NC_000011.10:68993081 1 0 0 0 0 rs12283870, NC_000011.10:g.68993081C>T, 12283870, NC_000011.9:g.68760549=, 60094446, NC_000011.10:g.68993081=, NC_000011.9:g.68760549C>T +PA166170598 rs12290663 NC_000011.10:26141193 1 0 0 0 0 rs12290663, NC_000011.9:g.26162740=, 12290663, NC_000011.9:g.26162740G>A, NC_000011.10:g.26141193G>A, NC_000011.10:g.26141193= +PA166210015 rs12296477 PA35900 SLC4A8 NC_000012.12:51510076 1 1 0 0 0 NG_032675.1:g.123630C>G, NG_032675.2:g.123630=, NC_000012.11:g.51903860=, NC_000012.11:g.51903860C>G, NG_032675.2:g.123630C>G, NC_000012.12:g.51510076=, rs12296477, 12296477, NC_000012.12:g.51510076C>G, NG_032675.1:g.123630= +PA166156505 rs1229967 PA24570 ADH1A NC_000004.12:99286421 1 0 0 0 0 rs17298736, NC_000004.11:g.100207578=, rs1693436, NC_000004.12:g.99286421G>A, NC_000004.11:g.100207578G>T, NC_000004.11:g.100207578G>C, NR_037884.1:n.3790-374G>C, 1693436, NC_000004.12:g.99286421G>C, NC_000004.11:g.100207578G>A, 1229967, rs1229967, 17298736, NM_000667.3:c.259+429C>G, 57128620, NC_000004.12:g.99286421=, 117541479, NC_000004.12:g.99286421G>T, rs117541479, rs57128620 +PA166156506 rs1229976 PA24570 ADH1A NC_000004.12:99280921 3 1 0 0 0 3805323, NR_037884.1:n.3790-5874C>T, rs3805323, NC_000004.11:g.100202078C>T, NC_000004.12:g.99280921C>T, rs57398036, 1229976, rs1229976, 1789860, NM_000667.3:c.829-642G>A, rs1789860, NC_000004.11:g.100202078C>A, 57398036, NC_000004.12:g.99280921=, NC_000004.11:g.100202078=, NC_000004.12:g.99280921C>A +PA166156507 rs1229984 PA24571 ADH1B NC_000004.12:99318162 10 3 0 0 0 rs52797169, rs57624638, NC_000004.11:g.100239319=, 11537716, NC_000004.12:g.99318162T=, NG_011435.1:g.8254A=, NP_000659.2:p.His48Arg, rs17028836, XM_005262730.1:c.23A>G, 17856968, XP_005262787.1:p.His8=, NM_001286650.1:c.23A=, XM_005262730.1:c.23A=, 57624638, NM_001286650.1:c.23A>G, 17028836, NP_001273579.1:p.His8Arg, XP_005262787.1:p.His8Arg, NP_001273579.1:p.His8=, NC_000004.12:g.99318162T>C, NC_000004.11:g.100239319T>G, NP_000659.2:p.His48Pro, NM_000668.5:c.143A=, NC_000004.11:g.100239319T>C, NC_000004.12:g.99318162T>G, rs1789884, 52797169, ADH1B*2, rs11537716, 1229984, NG_011435.1:g.8254A>C, rs1229984, NM_000668.5:c.143A>G, NG_011435.1:g.8254A>G, 1789884, NC_000004.11:g.100239319T=, NC_000004.12:g.99318162=, NG_011435.1:g.8254=, NP_000659.2:p.His48=, rs17856968 +PA166156508 rs1229985 PA24571 ADH1B NC_000004.12:99311721 1 0 0 0 0 XM_005262730.1:c.709-65T>C, NC_000004.11:g.100232878A>G, NC_000004.11:g.100232878=, NC_000004.12:g.99311721=, NG_011435.1:g.14695T>C, NM_000668.5:c.829-65T>C, 1229985, 1789881, rs1229985, NM_001286650.1:c.709-65T>C, rs1789881, NC_000004.12:g.99311721A>G, NG_011435.1:g.14695= +PA166176937 rs12302749 PA36689,PA37253 TPI1,USP5 NC_000012.12:6867132 1 1 0 0 0 NC_000012.12:g.6867132=, NC_000012.11:g.6976296=, NG_011948.1:g.4713C>T, NG_011948.1:g.4713=, NC_000012.11:g.6976296C>T, 12302749, NC_000012.12:g.6867132C>T, rs12302749 +PA166206604 rs12305038 PA33126 PDE3A NC_000012.12:20369318 2 1 0 0 0 NC_000012.11:g.20522252G>A, NC_000012.12:g.20369318G>A, NP_000912.3:p.Asp12Asn, NC_000012.12:g.20369318=, NG_030033.1:g.5074=, rs12305038, NC_000012.11:g.20522252=, NG_030033.1:g.5074G>A, NP_000912.3:p.Asp12=, 12305038 +PA166180500 rs12305884 PA134865839 SLCO1B1 NC_000012.12:21200738 1 0 0 0 0 NC_000012.11:g.21353672=, NG_011745.1:g.74545=, 12305884, rs12305884, NC_000012.12:g.21200738G>A, NC_000012.12:g.21200738=, NC_000012.11:g.21353672G>A, 59189560, NG_011745.1:g.74545G>A +PA166156757 rs1232027 NC_000005.10:80619201 1 0 0 0 0 NC_000005.10:g.80619201G>A, rs61665333, rs1643642, 56526453, NR_125754.1:n.117+3207C>T, rs56526453, 61665333, NC_000005.10:g.80619201=, NC_000005.9:g.79915020G>A, NC_000005.9:g.79915020=, 1643642, 1232027, rs1232027 +PA166199941 rs12320939 PA162398445 ORAI1 NC_000012.12:121624817 2 0 0 0 0 12320939, NC_000012.12:g.121624817=, NC_000012.11:g.122062722G>T, rs12320939, NG_007500.1:g.3248G>T, NG_007500.1:g.3248=, 58852717, NC_000012.11:g.122062722=, NC_000012.12:g.121624817G>T +PA166255461 rs12329760 PA36577 TMPRSS2 NC_000021.9:41480570 1 0 0 0 0 NC_000021.9:g.41480570C>T, NC_000021.8:g.42852497C>T, 117861107, NP_005647.3:p.Val160Met, NP_005647.3:p.Val160=, NG_047085.2:g.55547=, NC_000021.8:g.42852497=, NC_000021.9:g.41480570=, NG_047085.2:g.55547G>A, 12329760, rs12329760, 60283747 +PA166157454 rs12333983 PA130 CYP3A4 NC_000007.14:99756491 1 0 0 0 0 NC_000007.14:g.99756491T>C, NC_000007.13:g.99354114T>G, 61591143, NC_000007.14:g.99756491T>A, NC_000007.13:g.99354114T>C, NG_008421.1:g.32695A>T, NM_001202855.2:c.*1642A>T, XM_011515842.1:c.*1642A>T, NC_000007.14:g.99756491=, NC_000007.14:g.99756491T>G, NG_008421.1:g.32695=, NC_000007.13:g.99354114T>A, NM_017460.5:c.*1642A>T, XM_011515841.1:c.*1642A>T, rs61591143, rs12333983, NC_000007.13:g.99354114=, NG_008421.1:g.32695A>C, NG_008421.1:g.32695A>G, 12333983 +PA166163382 rs12343867 PA29896,PA29989 INSL6,JAK2 NC_000009.12:5074189 1 0 0 0 0 NC_000009.11:g.5074189T>C, 12343867, rs12343867, NG_009904.1:g.93945=, 17424662, NC_000009.12:g.5074189T>C, NC_000009.11:g.5074189=, NC_000009.12:g.5074189=, NG_046969.1:g.116522=, NG_009904.1:g.93945T>C, NG_046969.1:g.116522A>G +PA166155185 rs1234612 PA37809 SOST NC_000017.11:43763434 1 0 0 0 0 NG_008078.2:g.355=, NC_000017.10:g.41840802C>T, NC_000017.11:g.43763434C>A, NG_008078.2:g.355G>C, NG_008078.2:g.355G>A, NC_000017.11:g.43763434=, 58518280, rs16940185, NC_000017.11:g.43763434C>G, NC_000017.10:g.41840802C>A, NC_000017.11:g.43763434C>T, NC_000017.10:g.41840802C>G, NC_000017.10:g.41840802=, rs58518280, NG_008078.2:g.355G>T, rs1234612, 1234612, 16940185 +PA166157835 rs12346562 NC_000009.12:11018077 3 2 0 0 0 12346562, NC_000009.11:g.11018077=, NC_000009.12:g.11018077C>A, NC_000009.11:g.11018077C>A, NC_000009.12:g.11018077C>T, NC_000009.11:g.11018077C>T, rs12346562, NC_000009.12:g.11018077= +PA166157836 rs12350051 PA30852 MLLT3 NC_000009.12:20475178 1 0 0 0 0 NC_000009.11:g.20475176T>C, NM_004529.3:c.194-18392A>G, NC_000009.12:g.20475178T>C, 12350051, NC_000009.11:g.20475176=, NM_001286691.1:c.185-18392A>G, 52816910, rs52816910, NC_000009.12:g.20475178=, rs12350051, XM_005251460.1:c.185-18392A>G +PA166157837 rs12353214 PA24346 PTGS1 NC_000009.12:122399591 4 0 0 0 0 NC_000009.11:g.125161870=, NC_000009.12:g.122399591=, rs12353214, NC_000009.11:g.125161870C>T, NC_000009.12:g.122399591C>T, 12353214 +PA166195381 rs12355840 PA164722578 MIR202 NC_000010.11:133247608 1 0 0 0 0 61338905, NC_000010.10:g.135061112C>T, NC_000010.10:g.135061112C>G, NC_000010.11:g.133247608C>T, NC_000010.11:g.133247608=, rs12355840, 12355840, NC_000010.11:g.133247608C>G, NC_000010.10:g.135061112= +PA166154463 rs12361312 PA31109 MS4A2 NC_000011.10:60085123 1 0 0 0 0 80051171, rs80051171, rs12361312, NG_016014.1:g.1460C>T, NC_000011.10:g.60085123=, rs60197873, NC_000011.9:g.59852596C>T, 60197873, NC_000011.9:g.59852596=, NC_000011.10:g.60085123C>T, NG_016014.1:g.1460=, 12361312 +PA166154464 rs12364283 PA27478 DRD2 NC_000011.10:113476233 2 2 0 0 0 rs57156756, NM_016574.3:c.-1189T>C, NC_000011.9:g.113346955A>G, rs12364283, XR_948023.1:n.205-380T>C, NC_000011.9:g.113346955=, NC_000011.10:g.113476233=, NC_000011.10:g.113476233A>G, NG_008841.1:g.4047=, NG_008841.1:g.4047T>C, 12364283, XM_005271425.1:c.-607T>C, 57156756, NM_000795.3:c.-1189T>C +PA166283581 rs12366035 PA37303 VEGFB NC_000011.10:64237220 2 1 0 0 0 NC_000011.9:g.64004692=, NC_000011.9:g.64004692C>T, 12366035, NG_029823.1:g.7637C>G, NC_000011.10:g.64237220=, NC_000011.10:g.64237220C>G, NP_003368.1:p.Asp136Glu, NP_003368.1:p.Asp136=, NC_000011.9:g.64004692C>G, NC_000011.10:g.64237220C>T, rs12366035, NG_029823.1:g.7637C>T, NG_029823.1:g.7637= +PA166157724 rs1236913 PA24346 PTGS1 NC_000009.12:122371200 1 0 0 0 0 XM_005252105.2:c.-276T>C, 17856849, NM_001271368.1:c.-276T>C, NM_001271164.1:c.22T>C, NC_000009.11:g.125133479T>C, NC_000009.12:g.122371200T>C, rs3842786, 3842786, NM_080591.2:c.22T>C, NC_000009.12:g.122371200T>G, rs1236913, 1236913, XM_005252106.1:c.-306T>C, NC_000009.11:g.125133479=, NC_000009.11:g.125133479T>G, 52820369, XM_005252104.1:c.-276T>C, 60505803, NP_000953.2:p.Trp8=, XM_011518876.1:c.-4138T>C, NP_001258093.1:p.Trp8Arg, NM_001271367.1:c.-277T>C, NG_032900.1:g.5251T>C, NG_032900.1:g.5251T>G, NM_000962.3:c.22T>C, NP_000953.2:p.Trp8Arg, XM_005252105.1:c.-276T>C, NG_032900.1:g.5251=, rs52820369, NM_000962.2:c.22T>C, NP_000953.2:p.Trp8Gly, rs60505803, NM_001271166.1:c.-306T>C, NP_542158.1:p.Trp8Arg, rs17856849, NC_000009.12:g.122371200=, XM_011518875.1:c.-276T>C +PA166183295 rs1237225311 PA126 CYP2C9 NC_000010.11:94972233 2 2 2 0 0 NC_000010.11:g.94972233C>T, NG_008385.1:g.38576=, NP_000762.2:p.Pro317=, rs1237225311, NC_000010.11:g.94972233=, 1237225311, NC_000010.10:g.96731990C>T, NG_008385.2:g.39076C>T, NC_000010.10:g.96731990=, NG_008385.2:g.39076=, NG_008385.1:g.38576C>T, NP_000762.2:p.Pro317Ser +PA166268181 rs1238137908 PA134963132 NUDT15 NC_000013.11:48037747 1 0 0 0 0 NC_000013.10:g.48611883A>T, NG_047021.1:g.5181A>G, NC_000013.11:g.48037747A>C, NG_047021.1:g.5181A>C, NP_060753.1:p.Met1=, rs1238137908, NC_000013.11:g.48037747A>G, NC_000013.10:g.48611883A>C, NP_060753.1:p.Met1Leu, NC_000013.11:g.48037747=, NP_060753.1:p.Met1Val, 1238137908, NC_000013.10:g.48611883=, NG_047021.1:g.5181=, NC_000013.11:g.48037747A>T, NG_047021.1:g.5181A>T, NC_000013.10:g.48611883A>G +PA166156758 rs1239344 PA32837 OSMR NC_000005.10:38933647 1 0 0 0 0 1239344, rs386524019, 3805574, NG_016236.1:g.92790=, rs57452493, rs1239344, XM_005248384.1:c.*203C>T, NC_000005.10:g.38933647=, XM_005248385.1:c.*203C>T, rs3805574, 386524019, 57452493, NG_016236.1:g.92790C>T, XM_011514161.1:c.2370+1112C>T, XR_925661.1:n.2759+1112C>T, NC_000005.10:g.38933647C>T, NM_003999.2:c.*203C>T, NC_000005.9:g.38933749=, rs1697882, 1697882, NC_000005.9:g.38933749C>T +PA166176224 rs12402181 PA165751627,PA134909202 MIR3117,SGIP1 NC_000001.11:66628488 2 0 0 0 0 NC_000001.11:g.66628488=, NC_000001.11:g.66628488G>T, NC_000001.11:g.66628488G>A, NC_000001.10:g.67094171G>A, NC_000001.10:g.67094171G>T, NC_000001.10:g.67094171=, 12402181, rs12402181 +PA166180997 rs12404655 PA98 CDA NC_000001.11:20616702 1 0 0 0 0 NC_000001.10:g.20943195=, 12404655, NC_000001.10:g.20943195A>G, NC_000001.11:g.20616702A>G, rs12404655, NC_000001.11:g.20616702=, 58430352 +PA166153856 rs12407843 PA162399233 PEAR1 NC_000001.11:156903935 1 1 0 0 0 NP_001073940.1:p.Pro3=, NC_000001.10:g.156873727G>T, rs12407843, XM_011509511.1:c.9G>A, XP_011507810.1:p.Pro3=, XP_011507812.1:p.Pro3=, XM_011509512.1:c.-477G>A, NC_000001.11:g.156903935G>A, NC_000001.10:g.156873727=, XM_011509508.1:c.9G>A, NC_000001.11:g.156903935G>C, XM_005245142.1:c.-1050G>A, NC_000001.11:g.156903935=, XM_006711302.2:c.9G>A, 58510030, NC_000001.10:g.156873727G>A, NC_000001.11:g.156903935G>T, XP_011507811.1:p.Pro3=, NC_000001.10:g.156873727G>C, XM_011509509.1:c.9G>A, 12407843, XP_011507813.1:p.Pro3=, rs58510030, XP_006711365.1:p.Pro3=, XM_005245141.1:c.9G>A, XM_005245141.2:c.9G>A, XM_011509510.1:c.9G>A, XP_005245198.1:p.Pro3=, NM_001080471.1:c.9G>A +PA166176946 rs12409352 PA38718 PIGM NC_000001.11:160030645 1 1 0 0 0 NC_000001.11:g.160030645=, NP_660150.1:p.Phe365Leu, 12409352, NP_660150.1:p.Phe365=, NG_012238.1:g.6349T>A, rs12409352, NC_000001.11:g.160030645A>T, NC_000001.10:g.160000435A>T, NC_000001.10:g.160000435=, NG_012238.1:g.6349= +PA166153857 rs12410394 PA24994,PA166180600 ARNT,CTXND2 NC_000001.11:150887710 1 0 0 0 0 17609040, 12410394, NC_000001.11:g.150887710=, NC_000001.10:g.150860186G>A, XR_158744.2:n.96+397G>A, XR_241119.1:n.-123G>A, 59537282, rs17609040, rs12410394, rs59537282, NC_000001.11:g.150887710G>A, XR_158744.3:n.61+397G>A, NC_000001.10:g.150860186= +PA166154151 rs12414460 PA126 CYP2C9 NC_000010.11:94942231 3 2 2 0 0 NG_008385.1:g.8574G>A, 12414460, NC_000010.10:g.96701988G>T, NG_008385.2:g.9074=, NG_008385.2:g.9074G>A, NP_000762.2:p.Arg124Gln, NC_000010.11:g.94942231=, NC_000010.11:g.94942231G>T, NC_000010.10:g.96701988G>A, rs12414460, NG_008385.1:g.8574G>T, NM_000771.3:c.371G>A, NP_000762.2:p.Arg124=, NP_000762.2:p.Arg124Leu, NC_000010.10:g.96701988=, NG_008385.2:g.9074G>T, NC_000010.11:g.94942231G>A, XM_005269575.1:c.371G>A, XP_005269632.1:p.Arg124Gln, NG_008385.1:g.8574= +PA166154152 rs12415607 PA26091 CASP7 NC_000010.11:113678445 3 1 0 0 0 NM_001267056.1:c.-905C>A, rs34414451, 56491430, XM_006718018.1:c.-912C>A, 60647096, NM_033340.3:c.-905C>A, NC_000010.10:g.115438204=, rs12415607, NM_001227.4:c.-1534C>A, rs56491430, NC_000010.10:g.115438204C>A, rs60647096, NC_000010.11:g.113678445=, NM_001267057.1:c.-1310C>A, NM_033339.4:c.-1608C>A, 34414451, NC_000010.11:g.113678445C>A, NM_033338.5:c.-1542C>A, 12415607 +PA166153942 rs12418 PA26503 CHST3 NC_000010.11:72013256 1 1 0 0 0 XM_011540369.1:c.*4785G>A, NG_012635.1:g.53895G>A, 17231735, 60171882, NC_000010.11:g.72013256=, NM_004273.4:c.*4785G>A, rs17231735, rs3197880, 3197880, NG_012635.1:g.53895=, NC_000010.11:g.72013256G>A, 56605844, XM_006718075.2:c.*4785G>A, 12418, rs12418, NC_000010.10:g.73773014=, rs60171882, rs56605844, NC_000010.10:g.73773014G>A +PA166154465 rs12422149 PA35845 SLCO2B1 NC_000011.10:75172532 8 2 0 0 0 12422149, 56415681, NM_001145211.2:c.869G>A, XP_005273789.1:p.Arg196Gln, rs56415681, NC_000011.9:g.74883577G>A, NP_001138684.1:p.Arg168Gln, NP_009187.1:p.Arg312Leu, NP_009187.1:p.Arg312=, NM_007256.4:c.935G>A, NP_001138683.1:p.Arg290Gln, rs59614522, NG_027921.1:g.26546G>T, NM_001145212.2:c.503G>A, XM_005273732.1:c.587G>A, NC_000011.10:g.75172532=, NP_009187.1:p.Arg312Gln, NC_000011.10:g.75172532G>T, NC_000011.10:g.75172532G>A, 59614522, rs12422149, NG_027921.1:g.26546G>A, NG_027921.1:g.26546=, NC_000011.9:g.74883577=, NC_000011.9:g.74883577G>T +PA166154641 rs12425009 PA134963002 PITPNM2 NC_000012.12:123017497 1 0 0 0 0 XM_011538584.1:c.79-3455G>A, rs61307170, XM_011538593.1:c.-120-3455G>A, NC_000012.12:g.123017497=, XM_011538592.1:c.79-3455G>A, NC_000012.12:g.123017497C>A, NC_000012.11:g.123502044=, NC_000012.11:g.123502044C>A, XM_005253582.1:c.79-3455G>A, rs12425009, XM_011538591.1:c.79-3455G>A, XM_011538587.1:c.79-3455G>A, 61307170, XM_005253584.1:c.79-3455G>A, 12425009, XM_005253583.1:c.79-3455G>A, XM_011538586.1:c.79-3455G>A, NC_000012.11:g.123502044C>T, XM_005253585.1:c.79-3455G>A, XM_011538588.1:c.79-3455G>A, NC_000012.12:g.123017497C>T, NM_001300801.1:c.79-3455G>A, NM_020845.2:c.79-3455G>A, XM_005253586.1:c.-120-3455G>A, XM_011538585.1:c.79-3455G>A, XM_011538589.1:c.79-3455G>A, XM_011538590.1:c.-120-3455G>A +PA166154827 rs12435857 PA27886 ESR2 NC_000014.9:64256807 1 0 0 0 0 NC_000014.9:g.64256807G>A, NM_001291712.1:c.1091+419C>T, rs12435857, NR_073496.1:n.1695+3642C>T, NR_073505.1:n.1834+419C>T, NM_001291723.1:c.1091+419C>T, 58049166, NC_000014.8:g.64723525=, NM_001214902.1:c.1091+419C>T, NM_001271877.1:c.952+3642C>T, NM_001437.2:c.1091+419C>T, rs58049166, XM_011536545.1:c.1091+419C>T, NG_011535.1:g.86744=, NR_073497.1:n.1059+419C>T, 12435857, NM_001271876.1:c.1091+419C>T, XM_011536546.1:c.1091+419C>T, NC_000014.9:g.64256807=, NG_011535.1:g.86744C>T, NC_000014.8:g.64723525G>A, NM_001040275.1:c.1091+419C>T, NM_001214903.1:c.1091+419C>T +PA166161141 rs12436663 PA134879499 PRORP NC_000014.9:35169914 1 1 0 0 0 58362590, NC_000014.9:g.35169914G>A, NC_000014.9:g.35169914=, 12436663, NC_000014.8:g.35639120=, rs12436663, NC_000014.8:g.35639120G>A +PA166177846 rs12442183 NC_000015.10:93204756 1 0 0 0 0 12442183, NC_000015.10:g.93204756=, NC_000015.10:g.93204756C>G, NC_000015.9:g.93747985C>G, NC_000015.9:g.93747985C>T, rs12442183, NC_000015.10:g.93204756C>T, NC_000015.9:g.93747985= +PA166155111 rs12443580 PA107 CES1 NC_000016.10:55832425 1 0 0 0 0 NG_012057.1:g.5739A>G, XM_005255774.1:c.52+579A>G, 58785036, NC_000016.10:g.55832425=, NM_001025195.1:c.52+579A>G, rs12443580, NC_000016.10:g.55832425T>C, NM_001266.4:c.52+579A>G, NC_000016.10:g.55832425T>A, NG_012057.1:g.5739A>T, NW_003315945.1:g.56329T>C, XM_011546995.1:c.52+580A>G, rs58785036, NM_001025194.1:c.52+579A>G, XM_011522816.1:c.52+579A>G, 12443580, XM_005276867.1:c.52+580A>G, NC_000016.9:g.55866337=, NC_000016.9:g.55866337T>A, NG_012057.1:g.5739=, NC_000016.9:g.55866337T>C +PA166160892 rs12444979 NC_000016.10:19922278 1 0 0 0 0 NC_000016.9:g.19933600C>T, NC_000016.10:g.19922278C>T, NC_000016.10:g.19922278=, 12444979, NC_000016.9:g.19933600=, rs12444979 +PA166155321 rs12455775 PA36601 TNFRSF11A NC_000018.10:62352617 1 0 0 0 0 rs12455775, NC_000018.9:g.60019850T>G, NC_000018.10:g.62352617T>G, NG_008098.1:g.32303=, NM_003839.3:c.284-1774T>G, rs60836673, NM_001270949.1:c.284-1774T>G, NM_001270951.1:c.284-1774T>G, NM_003839.2:c.284-1774T>G, XM_005266777.1:c.284-1774T>G, NC_000018.9:g.60019850=, 12455775, 60836673, NG_008098.1:g.32303T>G, XR_935263.1:n.299-1774T>G, 12966359, rs12966359, NM_001270950.1:c.284-1774T>G, NM_001278268.1:c.284-1774T>G, XM_011526245.1:c.166-1774T>G, NC_000018.10:g.62352617=, XM_011526244.1:c.284-1774T>G +PA166164933 rs12456693 PA35811 SLC14A2 NC_000018.10:45334299 3 0 0 0 0 NC_000018.10:g.45334299=, NC_000018.9:g.42914264C>T, 60521576, NC_000018.10:g.45334299C>T, 12456693, NC_000018.9:g.42914264=, rs12456693 +PA166155322 rs12457042 PA36601 TNFRSF11A NC_000018.10:62326220 1 0 0 0 0 XM_011526244.1:c.75+793T>A, rs56970683, NC_000018.9:g.59993453T>A, XR_935263.1:n.90+793T>A, NC_000018.10:g.62326220=, NG_008098.1:g.5906T>A, 12457042, XM_011526245.1:c.-118+793T>A, XM_005266777.1:c.75+793T>A, NM_001270949.1:c.75+793T>A, NM_003839.3:c.75+793T>A, 56970683, NM_001270950.1:c.75+793T>A, NM_001278268.1:c.75+793T>A, NM_003839.2:c.75+793T>A, NC_000018.9:g.59993453=, NG_008098.1:g.5906=, NM_001270951.1:c.75+793T>A, rs12457042, NC_000018.10:g.62326220T>A +PA166177345 rs12458 PA142672368,PA28587 C8orf49,GATA4 NC_000008.11:11759731 1 0 0 0 0 NC_000008.11:g.11759731=, NG_008177.2:g.87813=, NC_000008.10:g.11617240=, NC_000008.11:g.11759731A>T, NG_008177.2:g.87813A>T, rs12458, 3735813, 61434530, NC_000008.10:g.11617240A>T, 12458, 3203323 +PA166155323 rs12458117 PA36601 TNFRSF11A NC_000018.10:62360215 1 0 0 0 0 XM_011526244.1:c.631+166G>A, rs56781861, NG_008098.1:g.39901=, NM_001270950.1:c.616+166G>A, NC_000018.9:g.60027448G>T, XM_005266777.1:c.616+166G>A, rs12458117, NC_000018.10:g.62360215G>T, NG_008098.1:g.39901G>A, NM_001270949.1:c.616+166G>A, NC_000018.9:g.60027448G>A, 56781861, NC_000018.9:g.60027448=, NG_008098.1:g.39901G>T, NM_001278268.1:c.574+166G>A, 12458117, NC_000018.10:g.62360215G>A, NM_001270951.1:c.616+166G>A, XR_935263.1:n.646+166G>A, NC_000018.10:g.62360215=, NM_003839.2:c.616+166G>A, XM_011526245.1:c.508+166G>A, NM_003839.3:c.616+166G>A +PA166170354 rs12459249 NC_000019.10:40833991 1 1 0 0 0 12459249, NC_000019.9:g.41339896=, rs12459249, NC_000019.9:g.41339896T>C, NC_000019.10:g.40833991=, NC_000019.10:g.40833991T>C +PA166161414 rs12459419 PA26210 CD33 NC_000019.10:51225221 1 0 0 0 0 NC_000019.9:g.51728477C>G, NP_001763.3:p.Ala14=, NC_000019.10:g.51225221=, NC_000019.10:g.51225221C>T, rs12459419, 73045565, NC_000019.10:g.51225221C>G, 12459419, NC_000019.9:g.51728477C>T, NP_001763.3:p.Ala14Gly, NC_000019.9:g.51728477=, NP_001763.3:p.Ala14Val +PA166170234 rs12459996 PA25197 AXL NC_000019.10:41251001 1 1 0 0 0 rs12459996, NC_000019.9:g.41756906G>T, 61059681, NC_000019.10:g.41251001=, NC_000019.9:g.41756906=, 12459996, NC_000019.10:g.41251001G>T +PA166155463 rs12460590 PA121,PA27102 CYP2A6,CYP2A7 NC_000019.10:40875742 1 0 0 0 0 XR_935754.1:n.1975T>G, NC_000019.9:g.41381647A>C, NP_000755.2:p.Val479Gly, 12460590, 75344699, NC_000019.9:g.41381647A>G, NC_000019.10:g.40875742A>T, NM_030589.2:c.1283T>G, NM_000764.2:c.1436T>G, rs12460590, NG_007960.1:g.12011T>C, NG_007960.1:g.12011T>A, NC_000019.9:g.41381647A>T, NC_000019.10:g.40875742A>C, NC_000019.10:g.40875742=, NP_000755.2:p.Val479Asp, NP_000755.2:p.Val479=, NP_085079.2:p.Val428Gly, NC_000019.9:g.41381647=, NC_000019.10:g.40875742A>G, NG_007960.1:g.12011=, rs75344699, NG_007960.1:g.12011T>G, NP_000755.2:p.Val479Ala +PA166185414 rs12460780 PA33329 PIP5K1C NC_000019.10:3645949 1 0 0 0 0 NC_000019.9:g.3645947G>T, NC_000019.10:g.3645949G>A, NG_012161.1:g.59499C>G, NG_012161.2:g.59499=, NC_000019.10:g.3645949G>C, NG_012161.2:g.59499C>T, rs12460780, 57470072, NG_012161.1:g.59499C>A, NC_000019.9:g.3645947=, NC_000019.10:g.3645949=, NC_000019.9:g.3645947G>C, NG_012161.2:g.59499C>G, NC_000019.10:g.3645949G>T, NG_012161.1:g.59499C>T, NG_012161.1:g.59499=, NG_012161.2:g.59499C>A, 12460780, NC_000019.9:g.3645947G>A +PA166155464 rs12461964 NC_000019.10:40835324 1 1 0 0 0 NC_000019.10:g.40835324A>G, NC_000019.10:g.40835324=, 12461964, NC_000019.10:g.40835324A>T, rs12461964, NC_000019.9:g.41341229A>G, NC_000019.9:g.41341229=, NC_000019.9:g.41341229A>T +PA166321482 rs12465864 PA34202 RAMP1 NC_000002.12:237865062 1 0 0 0 0 NC_000002.12:g.237865062=, NC_000002.11:g.238773705A>G, rs12465864, NC_000002.11:g.238773705=, 12465864, NC_000002.12:g.237865062A>G, 60004437 +PA166155812 rs12467557 PA31786 NRXN1 NC_000002.12:51015132 1 1 0 0 0 NG_011878.1:g.22405T>C, XM_006712140.2:c.772+12370T>C, XM_011533171.1:c.772+12370T>C, XM_006712137.2:c.772+12370T>C, XM_011533176.1:c.772+12370T>C, NC_000002.12:g.51015132A>G, XM_005264643.2:c.772+12370T>C, XM_011533167.1:c.772+12370T>C, XM_011533180.1:c.772+12370T>C, NM_004801.4:c.772+12370T>C, XM_011533170.1:c.772+12370T>C, XM_011533175.1:c.772+12370T>C, XM_011533179.1:c.772+12370T>C, NC_000002.12:g.51015132=, NC_000002.11:g.51242270=, XM_011533178.1:c.772+12370T>C, XM_011533173.1:c.772+12370T>C, NM_001135659.1:c.871+11239T>C, XM_011533174.1:c.772+12370T>C, XM_005264642.1:c.772+12370T>C, XM_011533169.1:c.772+12370T>C, XM_011533172.1:c.772+12370T>C, XM_011533177.1:c.772+12370T>C, XM_006712141.2:c.772+12370T>C, rs12467557, NC_000002.11:g.51242270A>G, XM_011533168.1:c.772+12370T>C, XM_005264642.2:c.772+12370T>C, XM_005264643.1:c.772+12370T>C, NG_011878.1:g.22405=, 12467557 +PA166155813 rs12468274 PA37174,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233719268 1 0 0 0 0 XR_241240.1:n.1022+25403T>C, NG_002601.2:g.134525=, NC_000002.11:g.234627914=, rs12468274, NM_001072.3:c.861+25403T>C, NM_019076.4:c.856-47766T>C, NM_019077.2:c.855+36476T>C, XR_241238.1:n.504T>C, NM_021027.2:c.855+46479T>C, XR_241241.1:n.941+46479T>C, NM_007120.2:c.448T>C, NM_019078.1:c.867+5410T>C, NC_000002.12:g.233719268=, NM_019075.2:c.856-47766T>C, NC_000002.12:g.233719268T>C, NM_205862.1:c.60+25403T>C, NP_009051.1:p.Leu150=, NG_002601.2:g.134525T>C, 12468274, NC_000002.11:g.234627914T>C +PA166170421 rs12468485 PA28880 GPR35 NC_000002.12:240630710 1 0 0 0 0 NC_000002.12:g.240630710=, NC_000002.12:g.240630710C>T, NC_000002.11:g.241570127=, 12468485, NC_000002.11:g.241570127C>T, NP_005292.2:p.Thr253Met, rs12468485, NP_005292.2:p.Thr253= +PA166289281 rs1247117 NC_000010.11:118669290 2 0 0 0 0 57901392, NC_000010.11:g.118669290G>A, 56646500, NC_000010.10:g.120428802=, rs1247117, 1247117, NC_000010.10:g.120428802G>A, NC_000010.11:g.118669290= +PA166238022 rs12471326 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233767812 1 1 0 0 0 NC_000002.12:g.233767812T>C, 12471326, 34714065, rs12471326, NC_000002.11:g.234676458T>C, NG_002601.2:g.183069T>C, NC_000002.12:g.233767812=, NG_002601.2:g.183069=, NG_033238.1:g.12540=, NC_000002.11:g.234676458=, NG_033238.1:g.12540T>C +PA166179892 rs12475818 PA36302 TACR1 NC_000002.12:75147139 1 0 0 0 0 17565928, NC_000002.11:g.75374265T>A, 12475818, NC_000002.11:g.75374265T>G, NG_029522.1:g.57381=, NG_029522.1:g.57381A>C, rs12475818, 56586144, NC_000002.12:g.75147139=, NC_000002.11:g.75374265=, NC_000002.12:g.75147139T>A, 56858700, NC_000002.12:g.75147139T>G, NG_029522.1:g.57381A>T +PA166155817 rs12478318 PA35010 SCN9A NC_000002.12:166277030 1 0 0 0 0 XM_011511619.1:c.2827A>C, NC_000002.12:g.166277030T>G, XM_011511618.1:c.2794A>C, XM_011511617.1:c.2827A>C, XP_011509920.1:p.Met932Leu, rs12478318, 12478318, NC_000002.11:g.167133540=, NP_002968.1:p.Met932=, NR_110260.1:n.870-58T>G, XP_011509919.1:p.Met943Leu, NP_002968.1:p.Met932Leu, XR_241346.1:n.870-58T>G, NC_000002.11:g.167133540T>G, NG_012798.1:g.103958A>C, XP_005246814.1:p.Met943Leu, XP_011509918.1:p.Met943Leu, XM_005246757.1:c.2827A>C, NM_002977.3:c.2794A>C, XM_011511616.1:c.2827A>C, NG_012798.1:g.103958=, NM_002977.2:c.2794A>C, XP_011509921.1:p.Met943Leu, NC_000002.12:g.166277030= +PA166156447 rs12487736 PA162402461 SCAP NC_000003.12:47418189 6 2 0 0 0 NC_000003.12:g.47418189C>A, XM_011533502.1:c.1249G>A, rs12487736, rs17858562, 17849135, XM_005264971.1:c.1216G>A, XP_005265024.1:p.Val798Ile, XM_005264972.1:c.1216G>A, NC_000003.11:g.47459679=, NM_001320044.1:c.1627G>A, NP_036367.2:p.Val798Phe, XP_011531803.1:p.Val798Ile, rs17849135, 12487736, XM_005264970.1:c.1216G>A, XP_005265027.1:p.Val406Ile, NP_036367.2:p.Val798=, XP_005265029.1:p.Val406Ile, NM_012235.3:c.2392G>A, XP_005265025.1:p.Val543Ile, NC_000003.11:g.47459679C>T, XM_005264968.1:c.1627G>A, XP_011531804.1:p.Val417Ile, NP_036367.2:p.Val798Ile, XP_005265026.1:p.Val543Ile, rs17845631, XR_940393.1:n.2578G>A, NP_001306973.1:p.Val543Ile, XP_005265023.1:p.Val798Ile, NC_000003.12:g.47418189C>T, XM_005264969.1:c.1627G>A, XM_005264970.3:c.1216G>A, XM_011533501.1:c.2392G>A, 17845631, XM_005264966.1:c.2392G>A, NC_000003.11:g.47459679C>A, NC_000003.12:g.47418189=, 17858562, XM_005264967.1:c.2392G>A, XM_005264972.3:c.1216G>A, XP_005265028.1:p.Val406Ile +PA166162321 rs12487835 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151361309 1 0 0 0 0 12487835, NC_000003.12:g.151361309C>T, NC_000003.11:g.151079097=, rs12487835, NG_016019.1:g.28448=, NG_021244.1:g.279422C>T, NG_021244.1:g.279422=, 17282968, NG_016019.1:g.28448G>A, NC_000003.12:g.151361309=, NC_000003.11:g.151079097C>T +PA166162453 rs12488654 PA36618 TNFSF10 NC_000003.12:172524100 1 0 0 0 0 NC_000003.12:g.172524100G>A, NC_000003.11:g.172241890G>A, 17838855, NC_000003.12:g.172524100=, rs12488654, NC_000003.11:g.172241890=, 12488654 +PA166156448 rs12495941 PA134933118 ADIPOQ NC_000003.12:186850391 1 0 0 0 0 NC_000003.11:g.186568180G>T, NC_000003.12:g.186850391G>A, XM_011513324.1:c.-124-715G>T, NG_044949.1:g.10482G>T, NC_000003.12:g.186850391=, NG_021140.1:g.12718G>A, 59339333, NC_000003.11:g.186568180=, 12495941, rs12495941, NC_000003.12:g.186850391G>T, NC_000003.11:g.186568180G>A, NG_021140.1:g.12718G>T, NM_001177800.1:c.-8-2660G>T, NG_021140.1:g.12718=, NG_044949.1:g.10482G>A, rs59339333, NM_004797.3:c.-8-2660G>T, NG_044949.1:g.10482= +PA166162325 rs12497330 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151352163 1 0 0 0 0 NG_021244.1:g.270276G>T, NC_000003.11:g.151069951G>T, NG_021244.1:g.270276G>A, NC_000003.11:g.151069951G>A, NG_021244.1:g.270276=, 61431767, NG_016019.1:g.37594C>A, 12497330, NC_000003.12:g.151352163=, NC_000003.12:g.151352163G>T, NC_000003.12:g.151352163G>A, NG_016019.1:g.37594=, NG_016019.1:g.37594C>T, rs12497330, NC_000003.11:g.151069951= +PA166159093 rs12501068 NC_000004.12:125821536 1 0 0 0 0 12501068, rs12501068, NC_000004.11:g.126742691=, NC_000004.11:g.126742691G>T, NC_000004.12:g.125821536=, NC_000004.12:g.125821536G>T, NC_000004.12:g.125821536G>A, NC_000004.11:g.126742691G>A +PA166177180 rs12502866 NC_000004.12:14788854 1 1 0 0 0 56578655, NC_000004.11:g.14790478G>A, rs12502866, 58656796, NC_000004.12:g.14788854=, NC_000004.12:g.14788854G>A, NC_000004.11:g.14790478=, 12502866 +PA166156659 rs12505410 PA390 ABCG2 NC_000004.12:88109689 4 2 0 0 0 NC_000004.12:g.88109689=, XM_005263354.2:c.1195-2423A>C, XM_005263355.1:c.1195-2423A>C, 12505410, NC_000004.12:g.88109689T>C, XM_005263356.1:c.1189-2423A>C, rs12505410, NM_004827.2:c.1195-2423A>C, NC_000004.11:g.89030841=, NG_032067.2:g.126634A>G, NC_000004.11:g.89030841T>G, NG_032067.2:g.126634=, NC_000004.11:g.89030841T>C, XM_005263354.1:c.1195-2423A>C, XM_011532420.1:c.1195-2423A>C, NG_032067.2:g.126634A>C, NM_001257386.1:c.1195-2423A>C, XM_005263356.2:c.1189-2423A>C, NC_000004.12:g.88109689T>G, XM_005263355.2:c.1195-2423A>C +PA166156660 rs12505746 PA162405634 TET2 NC_000004.12:105192914 1 1 0 0 0 XR_938747.1:n.250+2409A>G, NG_028191.1:g.52040=, XR_244634.2:n.250+2409A>G, NR_126420.1:n.319-15242T>C, XM_005263082.1:c.-46-40983A>G, NC_000004.11:g.106114071A>T, NM_017628.4:c.-47+2409A>G, XR_938746.1:n.250+2409A>G, XM_006714242.2:c.-47+2409A>G, XM_011532043.1:c.-47+2409A>G, NC_000004.11:g.106114071=, NM_001127208.2:c.-47+2409A>G, rs12505746, NC_000004.11:g.106114071A>G, NG_028191.1:g.52040A>G, NC_000004.12:g.105192914A>T, XR_244633.1:n.285+2409A>G, XR_244633.2:n.250+2409A>G, NC_000004.12:g.105192914A>G, XR_244634.1:n.285+2409A>G, NC_000004.12:g.105192914=, XR_427546.2:n.250+2409A>G, NG_028191.1:g.52040A>T, 12505746 +PA166183297 rs1250577724 PA126 CYP2C9 NC_000010.11:94981302 2 2 2 0 0 NC_000010.10:g.96741059C>T, NP_000762.2:p.Leu361=, NC_000010.11:g.94981302=, NC_000010.11:g.94981302C>A, 1250577724, NC_000010.10:g.96741059=, NG_008385.1:g.47645=, NG_008385.1:g.47645C>T, NP_000762.2:p.Leu361Ile, NG_008385.2:g.48145C>A, NP_000762.2:p.Leu361Phe, NG_008385.2:g.48145C>T, NC_000010.10:g.96741059C>A, NC_000010.11:g.94981302C>T, NG_008385.2:g.48145=, rs1250577724, NG_008385.1:g.47645C>A +PA166156661 rs12507552 PA138 DCTD NC_000004.12:182892272 1 1 0 0 0 NM_001921.2:c.458+759G>A, XM_005262782.2:c.281+759G>A, XM_005262780.2:c.458+759G>A, rs12507552, XM_005262780.1:c.458+759G>A, XM_005262782.1:c.281+759G>A, NC_000004.11:g.183813425C>T, XM_005262781.3:c.281+759G>A, XM_005262781.1:c.281+759G>A, XM_011531677.1:c.281+759G>A, NC_000004.12:g.182892272C>T, XM_005262778.1:c.491+759G>A, NC_000004.11:g.183813425C>A, XM_006714116.2:c.281+759G>A, XM_011531676.1:c.281+759G>A, XM_005262778.2:c.491+759G>A, XM_005262779.1:c.458+759G>A, NC_000004.12:g.182892272=, NM_001012732.1:c.491+759G>A, NC_000004.11:g.183813425=, XM_005262779.2:c.458+759G>A, XM_011531674.1:c.458+759G>A, XM_006714115.2:c.281+759G>A, XM_011531675.1:c.281+759G>A, 58281403, 12507552, NC_000004.12:g.182892272C>A, rs58281403 +PA166170448 rs12508471 NC_000004.12:88003219 1 0 0 0 0 rs12508471, NC_000004.11:g.88924371A>G, 12508471, NC_000004.12:g.88003219=, NG_008604.1:g.552A>G, NC_000004.12:g.88003219A>G, 57949403, NC_000004.11:g.88924371=, NG_008604.1:g.552= +PA166156875 rs12517451 PA143 DHFR NC_000005.10:80624254 1 0 0 0 0 NC_000005.10:g.80624254C>T, rs57318660, NG_023304.1:g.35728G>T, NC_000005.9:g.79920073C>T, NC_000005.10:g.80624254=, NR_125754.1:n.-1730G>A, NG_023304.1:g.35728G>A, 57318660, NG_023304.1:g.35728G>C, NG_023304.1:g.35728=, NC_000005.10:g.80624254C>A, rs12517451, NC_000005.9:g.79920073=, 12517451, NC_000005.9:g.79920073C>A, NC_000005.10:g.80624254C>G, NC_000005.9:g.79920073C>G +PA166156876 rs12518285 NC_000005.10:84941243 1 0 0 0 0 rs12518285, NC_000005.9:g.84237061C>T, NC_000005.10:g.84941243C>T, NC_000005.9:g.84237061=, NC_000005.10:g.84941243=, 12518285 +PA166199022 rs12521868 PA165660191 C5orf56 NC_000005.10:132448701 1 1 0 0 0 NC_000005.9:g.131784393=, rs12521868, NC_000005.10:g.132448701G>T, 61166245, 12521868, NC_000005.10:g.132448701=, NC_000005.9:g.131784393G>T +PA166156877 rs12522597 PA134888452 SV2C NC_000005.10:76135874 1 0 0 0 0 NC_000005.10:g.76135874G>A, 12522597, rs57393008, XM_011543282.1:c.8+3544G>A, rs12522597, XM_005248470.1:c.580+3544G>A, rs17565855, NM_014979.3:c.580+3544G>A, 56587561, XM_011543281.1:c.580+3544G>A, NC_000005.10:g.76135874=, 17565855, NM_001297716.1:c.580+3544G>A, 57393008, NC_000005.9:g.75431699G>A, rs56587561, NC_000005.9:g.75431699= +PA166303381 rs12522955 PA142672125 CEP72 NC_000005.10:639116 1 0 0 0 0 NC_000005.9:g.639231C>A, NC_000005.10:g.639116=, NC_000005.9:g.639231=, NP_060610.2:p.Pro412=, rs12522955, NC_000005.10:g.639116C>A, 12522955, NP_060610.2:p.Pro412Thr +PA166157181 rs12527161 NC_000006.12:120873738 1 0 0 0 0 NC_000006.11:g.121194884G>T, NC_000006.12:g.120873738=, NC_000006.11:g.121194884=, NC_000006.12:g.120873738G>T, rs12527161, 12527161 +PA166153943 rs12529 PA24679 AKR1C3 NC_000010.11:5094459 2 0 0 0 0 XM_005277677.1:c.16-1951C>G, NC_000010.11:g.5094459C>T, NP_003730.4:p.His5Gln, NM_001253909.1:c.15C>G, NP_001240838.1:p.His5Gln, NG_047094.1:g.50694=, NC_000010.10:g.5136651C>G, rs52833180, NC_000010.11:g.5094459C>G, rs12529, rs60646959, NM_001253908.1:c.85-1951C>G, 60646959, NC_000010.10:g.5136651=, NG_047094.1:g.50694C>G, XM_005252637.1:c.16-1951C>G, NM_003739.5:c.15C>G, NC_000010.11:g.5094459=, NC_000010.10:g.5136651C>T, 52833180, NP_003730.4:p.His5=, 3190662, rs3190662, NG_047094.1:g.50694C>T, rs1131108, 1131108, 12529 +PA166157182 rs12529220 PA356 TPMT NC_000006.12:18148016 1 0 0 0 0 NM_000367.3:c.141-101A>T, NG_012137.2:g.12128=, NC_000006.12:g.18148016T>A, NC_000006.11:g.18148247=, 12529220, rs12529220, NC_000006.11:g.18148247T>A, NG_012137.2:g.12128A>T, XM_011514839.1:c.141-101A>T, XM_011514840.1:c.72-101A>T, NC_000006.12:g.18148016= +PA166157455 rs12535293 PA427 CYP3A43 NC_000007.14:99857481 1 0 0 0 0 58902366, NC_000007.13:g.99455104=, NM_057095.2:c.865+582G>A, NR_103868.1:n.825+582G>A, 59965354, NM_022820.4:c.865+582G>A, NM_057096.3:c.865+582G>A, rs12535293, NG_007935.1:g.34469G>A, NR_103869.1:n.1089+582G>A, XM_011516493.1:c.865+582G>A, XM_011516494.1:c.445+582G>A, rs58902366, NC_000007.14:g.99857481=, NG_007935.1:g.34469=, rs59965354, NC_000007.14:g.99857481G>A, NM_001278921.1:c.535+582G>A, NC_000007.13:g.99455104G>A, 12535293 +PA166163365 rs12535512 PA267 ABCB1 NC_000007.14:87591018 1 0 0 0 0 NC_000007.13:g.87220334=, NG_011513.1:g.127231=, NG_011513.1:g.127231A>G, NC_000007.14:g.87591018T>A, NC_000007.14:g.87591018T>C, NG_011513.1:g.127231A>T, NC_000007.13:g.87220334T>A, 12535512, 58760516, rs12535512, NC_000007.13:g.87220334T>C, NC_000007.14:g.87591018= +PA166160071 rs12537880 PA38657 GLCCI1 NC_000007.14:7981939 1 0 0 0 0 NG_032073.1:g.18197=, 52790419, NG_026533.2:g.1763A>G, 12537880, NC_000007.14:g.7981939=, NC_000007.14:g.7981939A>G, rs12537880, NG_032073.1:g.18197A>G, NC_000007.13:g.8021570A>G, NC_000007.13:g.8021570=, NG_026533.2:g.1763= +PA166253761 rs12539 PA24416 AOC1 NC_000007.14:150861278 1 0 0 0 0 12539, rs12539, NC_000007.13:g.150558366=, NC_000007.13:g.150558366C>T, 3190015, NC_000007.14:g.150861278=, NC_000007.14:g.150861278C>T +PA166257324 rs1254213342 PA126 CYP2C9 NC_000010.11:94986136 1 0 0 0 0 NC_000010.11:g.94986136=, NG_008385.2:g.52979=, 1254213342, NC_000010.10:g.96745893A>C, NP_000762.2:p.Asn418Thr, NC_000010.11:g.94986136A>C, NC_000010.10:g.96745893=, NP_000762.2:p.Asn418=, rs1254213342, NG_008385.2:g.52979A>C +PA166177318 rs12550668 PA28587 GATA4 NC_000008.11:11722445 1 0 0 0 0 NC_000008.10:g.11579954=, 59089645, NC_000008.11:g.11722445=, NC_000008.10:g.11579954A>T, NC_000008.11:g.11722445A>T, NC_000008.11:g.11722445A>G, NG_008177.2:g.50527A>G, NC_000008.10:g.11579954A>G, NG_008177.2:g.50527A>T, 12550668, NG_008177.2:g.50527=, rs12550668 +PA166154775 rs1256031 PA27886 ESR2 NC_000014.9:64279461 1 0 0 0 0 17179712, NM_001214903.1:c.535+520C>T, 61056083, NC_000014.8:g.64746179G>A, NG_011535.1:g.64090C>T, NR_073505.1:n.1278+520C>T, NM_001291712.1:c.535+520C>T, rs17179712, XM_011536546.1:c.535+520C>T, XM_011536545.1:c.535+520C>T, rs61056083, NC_000014.8:g.64746179G>T, NG_011535.1:g.64090=, rs61491502, NM_001214902.1:c.535+520C>T, NM_001271876.1:c.535+520C>T, 61491502, NC_000014.9:g.64279461G>A, rs386524921, rs1256031, NG_011535.1:g.64090C>A, NM_001040275.1:c.535+520C>T, NC_000014.9:g.64279461=, 1256031, 386524921, NM_001271877.1:c.535+520C>T, NM_001437.2:c.535+520C>T, NC_000014.9:g.64279461G>T, NM_001291723.1:c.535+520C>T, NR_073496.1:n.1278+520C>T, NC_000014.8:g.64746179=, NR_073497.1:n.452+3163C>T +PA166154776 rs1256049 PA27886 ESR2 NC_000014.9:64257333 2 0 0 0 0 NP_001201831.1:p.Val328=, NP_001201832.1:p.Val328=, NP_001428.1:p.Val328=, rs17225976, rs60892953, XM_011536546.1:c.984G>A, NP_001258805.1:p.Val328=, NP_001278641.1:p.Val328=, NM_001214902.1:c.984G>A, NC_000014.9:g.64257333C>T, NG_011535.1:g.86218=, NP_001278652.1:p.Val328=, NR_073497.1:n.952G>A, 1256049, 60892953, 17225976, rs1256049, XM_011536545.1:c.984G>A, NC_000014.9:g.64257333=, NM_001291723.1:c.984G>A, NC_000014.8:g.64724051=, NC_000014.8:g.64724051C>T, NP_001035365.1:p.Val328=, NR_073505.1:n.1727G>A, NM_001214903.1:c.984G>A, NR_073496.1:n.1695+3116G>A, NM_001437.2:c.984G>A, rs386524925, NM_001291712.1:c.984G>A, 386524925, NM_001271877.1:c.952+3116G>A, XP_011534848.1:p.Val328=, XP_011534847.1:p.Val328=, NG_011535.1:g.86218G>A, NM_001040275.1:c.984G>A, NM_001271876.1:c.984G>A +PA166154777 rs1256061 PA27886 ESR2 NC_000014.9:64236875 1 0 0 0 0 rs1256061, NC_000014.9:g.64236875G>T, 17179537, 60634364, NC_000014.8:g.64703593=, NM_001271877.1:c.953-1725C>A, XM_011536545.1:c.1226-1725C>A, rs17179537, NR_073497.1:n.1194-1725C>A, NM_001214903.1:c.1226-1725C>A, 1256061, NG_011535.1:g.106676=, NC_000014.9:g.64236875G>A, NC_000014.8:g.64703593G>T, 52828228, NM_001040275.1:c.1226-1725C>A, XM_011536546.1:c.1226-1725C>A, NR_073496.1:n.1830-1725C>A, NG_011535.1:g.106676C>A, rs60634364, NM_001291723.1:c.1226-1725C>A, NG_011535.1:g.106676C>T, NC_000014.9:g.64236875=, NR_073505.1:n.1969-1725C>A, rs52828228, NM_001291712.1:c.1226-1725C>A, NM_001437.2:c.1226-1725C>A, NC_000014.8:g.64703593G>A, NM_001271876.1:c.1226-1725C>A, NM_001214902.1:c.1226-1725C>A +PA166154778 rs1256064 PA27886 ESR2 NC_000014.9:64234021 1 0 0 0 0 NC_000014.8:g.64700739A>G, NM_001040275.1:c.1406+949T>C, rs1256064, NR_073505.1:n.2149+949T>C, rs386524927, 386524927, 61545073, NM_001271876.1:c.1406+949T>C, NM_001437.2:c.1407-698T>C, XM_011536545.1:c.1406+949T>C, 1256064, NC_000014.9:g.64234021=, NC_000014.8:g.64700739=, NG_011535.1:g.109530=, NM_001214902.1:c.1406+949T>C, NM_001271877.1:c.1134-698T>C, XM_011536546.1:c.1407-698T>C, NM_001291723.1:c.1406+949T>C, rs61545073, NC_000014.9:g.64234021A>G, NR_073496.1:n.2010+949T>C, NG_011535.1:g.109530T>C, NR_073497.1:n.1375-698T>C, NM_001291712.1:c.1406+949T>C +PA166154779 rs1256120 PA27886 ESR2 NC_000014.9:64338283 1 0 0 0 0 rs117363295, rs1256120, NG_011535.1:g.5268T>A, NG_011535.1:g.5268T>C, NG_011535.1:g.5268=, rs1742152, NC_000014.8:g.64805001=, 1256120, 1742152, rs60272954, NC_000014.9:g.64338283A>T, NC_000014.8:g.64805001A>G, NR_073505.1:n.268T>C, NM_001291712.1:c.-1461T>C, NR_073496.1:n.268T>C, 117363295, NC_000014.9:g.64338283=, NC_000014.9:g.64338283A>G, NM_001291723.1:c.-476T>C, XM_011536546.1:c.-1792T>C, NC_000014.8:g.64805001A>T, 60272954 +PA166153859 rs12566888 PA162399233 PEAR1 NC_000001.11:156899255 3 1 0 0 0 NC_000001.10:g.156869047=, NC_000001.10:g.156869047G>T, rs12566888, XM_005245141.2:c.-168-2933G>T, XM_011509509.1:c.-107-2933G>T, XM_011509508.1:c.-164-2933G>T, 60358480, XM_011509510.1:c.-107-2933G>T, rs74229806, 12566888, 74229806, NC_000001.11:g.156899255G>T, XM_005245141.1:c.-168-2933G>T, XM_011509511.1:c.-168-2933G>T, rs60358480, NM_001080471.1:c.-9-4663G>T, XM_011509512.1:c.-494-4663G>T, XM_006711302.2:c.-168-2933G>T, NC_000001.11:g.156899255= +PA166154153 rs12571421 PA124 CYP2C19 NC_000010.11:94782225 1 0 0 0 0 rs28969425, 12571421, NC_000010.11:g.94782225=, NG_008384.3:g.24545=, NG_008384.2:g.24520A>G, 28969425, NM_000769.1:c.819+228A>G, NG_008384.3:g.24545A>G, rs12571421, NC_000010.10:g.96541982A>G, NM_000769.2:c.819+228A>G, NC_000010.10:g.96541982=, NC_000010.11:g.94782225A>G +PA166282981 rs12572897 PA134887727 NOC3L NC_000010.11:94355078 1 0 0 0 0 NP_071896.8:p.Pro194=, 12572897, NC_000010.10:g.96114835G>C, NC_000010.11:g.94355078=, NC_000010.10:g.96114835=, 52833406, NC_000010.10:g.96114835G>A, NP_071896.8:p.Pro194Leu, rs12572897, NC_000010.11:g.94355078G>C, 60029470, NC_000010.11:g.94355078G>A, NP_071896.8:p.Pro194Arg +PA166185218 rs12574471 PA27478 DRD2 NC_000011.10:113445514 3 0 0 0 0 NG_008841.1:g.34766G>A, NC_000011.10:g.113445514C>T, NC_000011.10:g.113445514=, NC_000011.9:g.113316236C>G, NC_000011.10:g.113445514C>G, NG_008841.1:g.34766=, 57567314, 12574471, rs12574471, NC_000011.9:g.113316236C>T, NC_000011.9:g.113316236=, NG_008841.1:g.34766G>C +PA166199003 rs12579720 NC_000012.12:20020830 1 1 0 0 0 NC_000012.11:g.20173764C>T, NC_000012.12:g.20020830=, NC_000012.11:g.20173764=, NC_000012.12:g.20020830C>G, NC_000012.11:g.20173764C>A, rs12579720, NC_000012.12:g.20020830C>T, NC_000012.12:g.20020830C>A, 12579720, NC_000012.11:g.20173764C>G +PA166171106 rs12593359 PA34176 RAD51 NC_000015.10:40731680 1 0 0 0 0 rs12593359, NC_000015.10:g.40731680=, NC_000015.10:g.40731680T>C, NC_000015.9:g.41023878=, NC_000015.10:g.40731680T>G, NG_012120.1:g.41520T>G, NC_000015.9:g.41023878T>G, NG_012120.1:g.41520T>C, 60290325, NC_000015.9:g.41023878T>C, 12593359, NG_012120.1:g.41520=, 17675843 +PA166177136 rs12595802 PA25097 ATP10A NC_000015.10:25806438 1 1 0 0 0 NC_000015.9:g.26051585G>T, NC_000015.10:g.25806438=, NC_000015.10:g.25806438G>C, NG_009282.1:g.61765C>A, NC_000015.10:g.25806438G>A, NG_009282.1:g.61765C>G, NC_000015.9:g.26051585G>C, NC_000015.9:g.26051585G>A, 12595802, NG_009282.1:g.61765=, NC_000015.10:g.25806438G>T, rs12595802, NG_009282.1:g.61765C>T, NC_000015.9:g.26051585= +PA166155112 rs12595985 PA152208656 FTO NC_000016.10:53842839 1 1 0 0 0 NC_000016.10:g.53842839C>T, NG_012969.1:g.143877C>T, NC_000016.9:g.53876751=, NC_000016.9:g.53876751C>G, NG_012969.1:g.143877=, NC_000016.10:g.53842839=, NC_000016.10:g.53842839C>A, NC_000016.9:g.53876751C>A, XM_011523315.1:c.782-1316C>A, NC_000016.9:g.53876751C>T, XM_011523313.1:c.782-1316C>A, NC_000016.10:g.53842839C>G, NG_012969.1:g.143877C>G, NG_012969.1:g.143877C>A, rs12595985, XM_011523316.1:c.782-1316C>A, 12595985, XM_011523314.1:c.782-1316C>A, NM_001080432.2:c.752-1316C>A +PA166177970 rs1260326 PA28611 GCKR NC_000002.12:27508073 1 1 0 0 0 NC_000002.12:g.27508073=, NC_000002.12:g.27508073T>G, 58226775, NC_000002.11:g.27730940T>G, NG_028024.1:g.16235T>G, rs1260326, NC_000002.12:g.27508073T>C, NP_001477.2:p.Leu446Arg, NC_000002.11:g.27730940T>C, NG_028024.1:g.16235T>C, NP_001477.2:p.Leu446=, 1260326, 17705011, NG_028024.1:g.16235=, NC_000002.11:g.27730940=, NP_001477.2:p.Leu446Pro +PA166177137 rs12603700 PA38265 MIEF2 NC_000017.11:18264370 1 1 0 0 0 NC_000017.10:g.18167684G>A, rs12603700, NP_631901.2:p.Gly324=, NP_631901.2:p.Gly324Glu, 12603700, 59096125, NC_000017.11:g.18264370=, NC_000017.11:g.18264370G>A, NC_000017.10:g.18167684= +PA166202201 rs12608932 PA134879020 UNC13A NC_000019.10:17641880 2 0 0 0 0 60281548, NC_000019.10:g.17641880A>T, 74253230, NG_052872.1:g.51465T>G, NG_052872.1:g.51465=, NC_000019.9:g.17752689A>C, NC_000019.9:g.17752689=, 12608932, NG_052872.1:g.51465T>A, NC_000019.10:g.17641880A>C, NC_000019.10:g.17641880=, NC_000019.9:g.17752689A>T, rs12608932 +PA166265921 rs12610827 NC_000019.10:1538139 1 0 0 0 0 NC_000019.9:g.1538138T>A, NC_000019.10:g.1538139T>G, NC_000019.10:g.1538139=, NC_000019.10:g.1538139T>C, rs12610827, NC_000019.10:g.1538139T>A, 12610827, NC_000019.9:g.1538138=, NC_000019.9:g.1538138T>G, NC_000019.9:g.1538138T>C +PA166186123 rs12612982 PA37418 XPO1 NC_000002.12:61520220 1 0 0 0 0 NC_000002.12:g.61520220G>A, NC_000002.12:g.61520220=, rs12612982, 12612982, NC_000002.11:g.61747355=, 57951414, NC_000002.11:g.61747355G>A +PA166176639 rs12613243 PA25305 BCL2L11 NC_000002.12:111139929 1 0 0 0 0 NC_000002.11:g.111897506=, NC_000002.11:g.111897506T>C, NG_029006.1:g.24016T>C, NC_000002.12:g.111139929T>C, NC_000002.11:g.111897506T>G, rs12613243, NG_029006.1:g.24016=, NG_029006.1:g.24016T>G, 12613243, NC_000002.12:g.111139929=, NC_000002.12:g.111139929T>G, 56839005 +PA166155818 rs12613732 PA134920089 GALNT14 NC_000002.12:31026561 1 1 0 0 0 XM_005264559.1:c.25-33554A>C, 17393634, NM_024572.3:c.130-33554A>C, rs56739826, NC_000002.12:g.31026561T>A, 56739826, NC_000002.12:g.31026561=, rs12613732, rs17393634, NG_051040.1:g.117166A>T, 12613732, NM_001253827.1:c.70-33554A>C, NG_051040.1:g.117166=, XM_011533106.1:c.43-33554A>C, NR_045602.1:n.903-33554A>C, XM_011533105.1:c.70-33554A>C, 58514179, NG_051040.1:g.117166A>C, NC_000002.11:g.31249427=, XM_011533104.1:c.448-33554A>C, NC_000002.12:g.31026561T>G, NC_000002.11:g.31249427T>G, NC_000002.11:g.31249427T>A, rs58514179, NM_001253826.1:c.315-60259A>C +PA166349381 rs12615320 NC_000002.12:237927498 1 3 0 0 0 NC_000002.12:g.237927498=, NC_000002.12:g.237927498A>G, NC_000002.11:g.238836140A>G, NC_000002.11:g.238836140=, NC_000002.12:g.237927498A>C, 12615320, rs12615320, NC_000002.11:g.238836140A>C +PA166159984 rs12621220 NC_000002.12:112840678 1 1 0 0 0 NC_000002.12:g.112840678C>T, 12621220, NC_000002.11:g.113598255C>T, 57951365, NG_008851.1:g.1102=, NC_000002.11:g.113598255=, NC_000002.12:g.112840678=, rs12621220, NG_008851.1:g.1102G>A +PA166155819 rs12623271 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233691295 2 1 1 0 0 NM_205862.1:c.-533C>G, NC_000002.11:g.234599941=, NM_019075.2:c.855+53918C>G, rs17862861, NM_019076.4:c.855+72733C>G, XR_241241.1:n.941+18506C>G, NC_000002.11:g.234599941C>G, rs61261421, NM_001072.3:c.-1710C>G, NG_002601.2:g.106552=, 61261421, NM_021027.2:c.855+18506C>G, XR_241240.1:n.-1549C>G, 17862861, rs12623271, NG_002601.2:g.106552C>G, XM_005246081.1:c.*734C>G, 12623271, NC_000002.12:g.233691295C>G, NM_019077.2:c.855+8503C>G, NC_000002.12:g.233691295= +PA166156449 rs12629751 PA281 PPARG NC_000003.12:12357908 1 0 0 0 0 XM_011533843.1:c.82+6234C>T, 12629751, NM_005037.5:c.-2-21796C>T, rs60837059, NM_015869.4:c.82+6234C>T, XM_011533840.1:c.-2-21796C>T, 60837059, NC_000003.12:g.12357908C>T, NM_138712.3:c.-2-21796C>T, NC_000003.12:g.12357908=, XM_011533842.1:c.82+6234C>T, NG_011749.1:g.75059=, NC_000003.11:g.12399407=, NM_138711.3:c.-2-21796C>T, rs12629751, NC_000003.11:g.12399407C>T, NG_011749.1:g.75059C>T, XM_011533841.1:c.-2-21796C>T, XM_011533844.1:c.-2-21796C>T +PA166177145 rs12630569 PA162410152 ZNF385D NC_000003.12:21757421 1 1 0 0 0 NC_000003.11:g.21798913G>A, NC_000003.11:g.21798913=, rs12630569, NC_000003.12:g.21757421=, NC_000003.12:g.21757421G>C, 12630569, NC_000003.12:g.21757421G>A, NC_000003.11:g.21798913G>C +PA166154326 rs1263177 PA24887 APOA4 NC_000011.10:116819996 1 0 0 0 0 NC_000011.10:g.116819996C>T, rs35785782, 35785782, NC_000011.10:g.116819996=, NG_012044.1:g.8300G>A, NG_012044.1:g.8300=, rs1263177, NC_000011.9:g.116690712C>T, 1263177, NC_000011.9:g.116690712= +PA166162327 rs12637988 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151347216 1 0 0 0 0 rs12637988, 60119224, NG_016019.1:g.42541=, NC_000003.12:g.151347216=, NC_000003.11:g.151065004T>A, NG_021244.1:g.265329T>A, NG_021244.1:g.265329=, NC_000003.12:g.151347216T>A, NG_016019.1:g.42541A>T, 12637988, NC_000003.11:g.151065004= +PA166156981 rs1264457 PA35081 HLA-E NC_000006.12:30490287 1 1 0 0 0 NC_000006.12:g.30490287G>A, NT_167246.1:g.1806142G>A, NT_167248.2:g.1745383A>G, NT_167249.1:g.1790354A>G, NC_000006.11:g.30458064=, NT_167248.1:g.1750979A=, NP_005507.3:p.Gly128Arg, NT_113891.3:g.1970022A>G, NT_167246.2:g.1800522G=, rs17195355, NT_113891.2:g.1970128A>G, NT_167249.2:g.1791056A>G, NC_000006.11:g.30458064G>T, NT_167245.1:g.1751704A>G, NT_167247.1:g.1839928G=, NC_000006.11:g.30458064G=, 117192178, NC_000006.12:g.30490287G>T, NT_167246.1:g.1806142G=, NC_000006.11:g.30458064G>A, NT_167246.2:g.1800522G>A, 1264457, rs1264457, 17195355, NM_005516.5:c.382G=, NT_167247.2:g.1834343G=, NM_005516.5:c.382G>A, NP_005507.3:p.Gly128=, rs115492845, rs117192178, NP_005507.3:p.Gly128Trp, NC_000006.12:g.30490287=, NT_167248.2:g.1745383A=, NT_167249.1:g.1790354A=, NT_113891.3:g.1970022A=, NT_167245.2:g.1746119A>G, NT_167248.1:g.1750979A>G, 115492845, NT_167245.1:g.1751704A=, rs7767992, 7767992, NT_167247.1:g.1839928G>A, NT_167245.2:g.1746119A=, NT_167249.2:g.1791056A=, NT_113891.2:g.1970128A=, NT_167247.2:g.1834343G>A, NC_000006.12:g.30490287G= +PA166180072 rs12645107 NC_000004.12:69123281 2 0 0 0 0 NC_000004.11:g.69988999G>A, 59543383, NC_000004.11:g.69988999=, rs12645107, NC_000004.12:g.69123281=, 12645107, NC_000004.12:g.69123281G>A +PA166156662 rs12648166 PA137 DCK NC_000004.12:71008028 2 0 0 0 0 13122407, NC_000004.11:g.71873745=, NC_000004.12:g.71008028A>G, NG_023303.1:g.19481A>G, NG_023303.1:g.19481A>C, 17686944, XM_005265649.1:c.24+1697A>G, rs13122407, NC_000004.11:g.71873745A>C, 12648166, NG_023303.1:g.19481=, NC_000004.12:g.71008028=, rs12648166, NM_000788.2:c.207+9846A>G, NC_000004.12:g.71008028A>C, rs17686944, NC_000004.11:g.71873745A>G +PA166156982 rs1265112 PA134942738 CCHCR1 NC_000006.12:31150242 1 1 0 0 0 XM_005274995.1:c.118-27A>G, XM_005274989.1:c.946-27G>A, XM_011514704.1:c.838-27G>A, XM_011547890.1:c.946-27A>G, XR_952943.1:n.1490-27G>A, XM_011548056.1:c.946-27A>G, XM_011548249.1:c.946-27G>A, XM_005272835.1:c.946-27A>G, XM_005275266.1:c.946-27A>G, XM_005272840.1:c.118-27A>G, XM_005274994.1:c.118-27G>A, XM_011547659.1:c.946-27G>A, XM_006725488.1:c.946-27A>G, XR_953006.1:n.1440-27A>G, XM_005272839.1:c.118-27G>A, XM_005272834.1:c.946-27G>A, XM_011514703.1:c.946-27A>G, NT_167246.2:g.2460749T=, XM_011514705.1:c.838-27A>G, NC_000006.11:g.31118019T=, XM_005275265.1:c.946-27G>A, rs61111094, NM_019052.3:c.946-27G>A, XR_953005.1:n.1440-27A>G, XM_011547658.1:c.946-27G>A, XM_011547661.1:c.838-27G>A, XM_011547889.1:c.946-27G>A, NM_001105563.1:c.1105-27G>A, XR_952944.1:n.1490-27A>G, XM_011548061.1:c.838-27G>A, XM_011547259.1:c.946-27A>G, XM_005272833.1:c.946-27G>A, XM_006725702.1:c.946-27G>A, XM_006726004.1:c.946-27A>G, XM_011548247.1:c.1132-27G>A, XM_005275266.1:c.946-27G>A, XM_005275268.1:c.838-27A>G, XM_011514706.1:c.946-27G>A, XM_005275422.1:c.1213-27A>G, XM_011547660.1:c.838-27G>A, XM_005272836.1:c.946-27A>G, XM_011547663.1:c.118-27G>A, XM_005274988.1:c.946-27G>A, XM_011548055.1:c.946-27A>G, NT_167248.2:g.2408256T=, XM_011547662.1:c.946-27G>A, NT_113891.3:g.2632659C=, XM_011548059.1:c.946-27G>A, XM_005274990.1:c.946-27A>G, NG_054878.1:g.12997A>G, XM_005274988.3:c.946-27G>A, XM_011547891.1:c.946-27A>G, NC_000006.11:g.31118019T>C, XM_011548251.1:c.118-27A>G, XM_005274992.1:c.946-27G>A, XM_011548246.1:c.1240-27A>G, XM_005274995.1:c.118-27G>A, XM_011514704.1:c.838-27A>G, XM_011547890.1:c.946-27G>A, XR_952943.1:n.1490-27A>G, XM_011548056.1:c.946-27G>A, XM_011547894.1:c.838-27A>G, XM_011548249.1:c.946-27A>G, XM_005272835.1:c.946-27G>A, XM_005274993.1:c.838-27A>G, XM_011548057.1:c.946-27A>G, XM_011548248.1:c.946-27G>A, NC_000006.12:g.31150242T=, XM_005274994.1:c.118-27A>G, XM_005272833.3:c.946-27G>A, XM_006725488.1:c.946-27G>A, XR_953006.1:n.1440-27G>A, XM_005272839.1:c.118-27A>G, XM_005275139.1:c.946-27G>A, XM_011514703.1:c.946-27G>A, XM_005275265.1:c.946-27A>G, XM_011547893.1:c.946-27G>A, XR_953005.1:n.1440-27G>A, XM_005272837.1:c.946-27G>A, XM_011547661.1:c.838-27A>G, XM_005275267.1:c.946-27A>G, XR_952944.1:n.1490-27G>A, XM_011547255.1:c.946-27A>G, XM_011547254.1:c.946-27A>G, XM_006726004.1:c.946-27G>A, XM_011548247.1:c.1132-27A>G, XM_011548058.1:c.946-27A>G, XM_011547892.1:c.946-27G>A, XM_005274991.1:c.946-27G>A, XM_011514706.1:c.946-27A>G, XR_247374.1:n.1240-27G>A, XM_005272838.1:c.838-27A>G, XM_011547660.1:c.838-27A>G, NT_167247.2:g.2494363T=, XM_005272836.1:c.946-27G>A, XM_005275140.1:c.118-27G>A, XM_005275422.1:c.1213-27G>A, XM_011514702.1:c.1132-27A>G, NT_167248.2:g.2408256T>C, XM_005275269.1:c.118-27A>G, XM_011547663.1:c.118-27A>G, XM_011548055.1:c.946-27G>A, XM_011547662.1:c.946-27A>G, XM_011548059.1:c.946-27A>G, XM_005274990.1:c.946-27G>A, XM_011547891.1:c.946-27G>A, XM_011548251.1:c.118-27G>A, XR_952829.1:n.1490-27A>G, XM_005274992.1:c.946-27A>G, XM_011548246.1:c.1240-27G>A, rs1265112, 1265112, XM_011547257.1:c.838-27G>A, NM_001105564.1:c.1213-27A>G, NC_000006.12:g.31150242T>C, XM_005275138.1:c.946-27G>A, XM_011547894.1:c.838-27G>A, XM_005274993.1:c.838-27G>A, XM_011547258.1:c.838-27A>G, XM_011548057.1:c.946-27G>A, XM_011548248.1:c.946-27A>G, XM_011548060.1:c.838-27A>G, XM_011547256.1:c.946-27A>G, XM_005272833.3:c.946-27A>G, XM_005275139.1:c.946-27A>G, XR_952828.1:n.1490-27G>A, NT_113891.3:g.2632659C>T, XM_005275424.1:c.946-27G>A, XM_011547893.1:c.946-27A>G, XM_011547895.1:c.838-27A>G, XM_005272837.1:c.946-27A>G, XM_011548250.1:c.838-27A>G, XM_005272832.1:c.946-27G>A, XM_005275267.1:c.946-27G>A, NG_054878.1:g.12997=, XM_011547255.1:c.946-27G>A, XM_011547254.1:c.946-27G>A, NC_000006.12:g.31150242=, XM_005274987.1:c.946-27G>A, XM_005275423.1:c.946-27G>A, XM_011548058.1:c.946-27G>A, NT_167246.2:g.2460749T>C, XM_011547892.1:c.946-27A>G, XM_005274991.1:c.946-27A>G, XR_247374.1:n.1240-27A>G, XM_005272838.1:c.838-27G>A, XM_005275140.1:c.118-27A>G, XM_011547260.1:c.118-27G>A, XM_011514702.1:c.1132-27G>A, XM_005275269.1:c.118-27G>A, XM_011547657.1:c.946-27G>A, XR_247390.1:n.1240-27G>A, NT_167245.2:g.2409550C=, 117335190, XM_011548245.1:c.1240-27G>A, XM_005275137.1:c.946-27G>A, NT_167247.2:g.2494363T>C, XR_952829.1:n.1490-27G>A, rs116151586, XM_011547257.1:c.838-27A>G, XM_005274989.1:c.946-27A>G, NM_001105564.1:c.1213-27G>A, XM_005275138.1:c.946-27A>G, NC_000006.11:g.31118019=, XM_011547258.1:c.838-27G>A, XM_005272840.1:c.118-27G>A, rs117335190, XM_011548060.1:c.838-27G>A, XM_011547256.1:c.946-27G>A, XM_011547659.1:c.946-27A>G, XM_005272834.1:c.946-27A>G, XR_952828.1:n.1490-27A>G, XM_011514705.1:c.838-27G>A, XM_005275424.1:c.946-27A>G, XM_011547895.1:c.838-27G>A, NM_019052.3:c.946-27A>G, 116151586, XM_011547658.1:c.946-27A>G, XM_011548250.1:c.838-27G>A, XM_005272832.1:c.946-27A>G, XM_011547889.1:c.946-27A>G, NM_001105563.1:c.1105-27A>G, XM_011548061.1:c.838-27A>G, NT_167245.2:g.2409550C>T, XM_005274987.1:c.946-27A>G, XM_005275423.1:c.946-27A>G, XM_011547259.1:c.946-27G>A, XM_005272833.1:c.946-27A>G, XM_006725702.1:c.946-27A>G, XM_005275268.1:c.838-27G>A, 61111094, XM_011547260.1:c.118-27A>G, XM_005274988.1:c.946-27A>G, XM_011547657.1:c.946-27A>G, XR_247390.1:n.1240-27A>G, XM_011548245.1:c.1240-27A>G, XM_005275137.1:c.946-27A>G, XM_005274988.3:c.946-27A>G +PA166157554 rs1265138 PA34866 RRM2B NC_000008.11:102187808 1 1 0 0 0 NC_000008.10:g.103200036=, rs1265138, 1265138, NC_000008.10:g.103200036A>G, NC_000008.11:g.102187808A>G, NC_000008.11:g.102187808= +PA166156878 rs12654264 PA189 HMGCR NC_000005.10:75352778 5 1 0 0 0 XM_011543358.1:c.1368+1176A>T, NC_000005.10:g.75352778=, rs58426549, 56464192, XM_011543357.1:c.1428+1176A>T, 12654264, rs17562575, NG_011449.1:g.20611=, NM_001130996.1:c.1368+1176A>T, NC_000005.10:g.75352778A>T, rs12654264, NC_000005.9:g.74648603A>T, XM_005248492.1:c.1428+1176A>T, NG_011449.1:g.20611A>T, XM_011543359.1:c.1428+1176A>T, rs56464192, 58426549, NC_000005.9:g.74648603=, 17562575, NM_000859.2:c.1368+1176A>T +PA166156879 rs12655684 PA134888452 SV2C NC_000005.10:76196877 1 0 0 0 0 XM_011543281.1:c.761+1778C>T, NM_014979.3:c.761+1778C>T, 12655684, NC_000005.10:g.76196877=, rs12655684, NC_000005.9:g.75492702C>T, XM_005248470.1:c.761+1778C>T, rs57357002, NM_001297716.1:c.761+1778C>T, NC_000005.9:g.75492702=, XM_011543282.1:c.9-12859C>T, NC_000005.10:g.76196877C>T, 57357002 +PA166177181 rs12657120 PA162407226 SKIC3 NC_000005.10:95466585 1 1 0 0 0 NC_000005.10:g.95466585=, NC_000005.9:g.94802289G>A, 12657120, rs12657120, NC_000005.10:g.95466585G>A, NG_023414.1:g.93421=, NC_000005.10:g.95466585G>C, NC_000005.9:g.94802289=, NG_023414.1:g.93421C>T, NC_000005.9:g.94802289G>C, NG_023414.1:g.93421C>G +PA166156880 rs12658397 PA134949852 SLCO6A1 NC_000005.10:102415949 1 0 0 0 0 12658397, XM_011543149.1:c.900-2806A>G, NC_000005.10:g.102415949T>C, XM_005271875.1:c.1287-2806A>G, XM_005271877.1:c.714-2806A>G, NM_173488.4:c.1473-2806A>G, NM_001289004.1:c.1287-2806A>G, rs12658397, NM_001308014.1:c.714-2806A>G, 61168560, NC_000005.9:g.101751653T>C, XM_005271876.1:c.1287-2806A>G, XM_011543152.1:c.714-2806A>G, XM_005271873.1:c.1473-2806A>G, XM_011543151.1:c.714-2806A>G, NC_000005.9:g.101751653=, rs61168560, NC_000005.10:g.102415949=, XM_005271874.1:c.1473-2806A>G, XM_011543153.1:c.651-2806A>G, XM_011543147.1:c.1368-2806A>G, XM_011543148.1:c.1236-2806A>G, XM_011543150.1:c.744-2806A>G, NM_001289002.1:c.1473-2806A>G, XM_005271874.2:c.1473-2806A>G +PA166155973 rs12659 PA327 SLC19A1 NC_000021.9:45531642 2 2 0 0 0 NM_194255.2:c.696T>C, rs17844976, 3171495, XM_011529701.1:c.696T>C, XM_011529709.1:c.342T>C, NC_000021.9:g.45531642A>T, XM_011529698.1:c.762T>C, rs3171495, XP_011528012.1:p.Pro114=, rs17857725, NP_001192135.1:p.Pro232=, XP_011528001.1:p.Pro241=, XM_011529697.1:c.987T>C, XM_011529705.1:c.987T>C, XP_011528008.1:p.Pro186=, XP_011528010.1:p.Pro232=, XM_005261163.1:c.696T>C, XM_011529706.1:c.558T>C, XP_011528003.1:p.Pro232=, NC_000021.9:g.45531642A>C, NG_028278.2:g.36502T>G, XP_011527998.1:p.Pro329=, NC_000021.8:g.46951556=, XM_011529700.1:c.696T>C, XP_011528002.1:p.Pro232=, XP_011528006.1:p.Pro232=, NC_000021.9:g.45531642A>G, XP_011527999.1:p.Pro329=, NP_919231.1:p.Pro232=, XP_011528005.1:p.Pro232=, NG_028278.2:g.36502=, XM_011529699.1:c.723T>C, XP_011528004.1:p.Pro232=, XM_011529708.1:c.696T>C, XP_011528007.1:p.Pro329=, XM_011529707.1:c.987T>C, NG_028278.2:g.36502T>C, NM_001205206.1:c.696T>C, NG_028278.2:g.36502T>A, XP_011528009.1:p.Pro329=, XP_005261221.1:p.Pro114=, XM_011529696.1:c.987T>C, XM_011529702.1:c.696T>C, 17844976, 12659, NC_000021.8:g.46951556A>C, NC_000021.9:g.45531642=, NC_000021.8:g.46951556A>G, XM_005261164.1:c.342T>C, XM_011529703.1:c.696T>C, 17857725, NG_028278.1:g.15830T>C, NC_000021.8:g.46951556A>T, XM_011529710.1:c.342T>C, NM_001205207.1:c.576T>C, XP_005261220.1:p.Pro232=, XP_011528000.1:p.Pro254=, XP_011528011.1:p.Pro114=, XM_011529704.1:c.696T>C, rs12659, XM_005261164.2:c.342T>C, NP_001192136.1:p.Pro192= +PA166233884 rs12666409 PA140 DDC NC_000007.14:50567279 4 0 0 0 0 12666409, NG_008742.1:g.3179A>T, rs12666409, NC_000007.14:g.50567279T>A, NC_000007.13:g.50634976=, NC_000007.13:g.50634976T>A, NG_008742.1:g.3179=, NC_000007.14:g.50567279T>C, NC_000007.14:g.50567279T>G, NC_000007.14:g.50567279= +PA166160139 rs12668352 PA38657 GLCCI1 NC_000007.14:8085639 1 0 0 0 0 NC_000007.14:g.8085639C>A, NG_032073.1:g.121896=, 12668352, rs12668352, 59564945, NC_000007.13:g.8125269=, NC_000007.13:g.8125269C>A, 17142854, NG_032073.1:g.121896C>A, NC_000007.14:g.8085639= +PA166165098 rs1267067 PA36330 TANK NC_000002.12:161151237 1 0 0 0 0 NC_000002.12:g.161151237=, NC_000002.11:g.162007748T>C, 9749658, rs1267067, 1267067, NC_000002.11:g.162007748=, 1612781, NC_000002.12:g.161151237T>C +PA166235564 rs12675595 NC_000008.11:53255365 1 0 0 0 0 57538930, NC_000008.10:g.54167925G>A, rs12675595, 12675595, NC_000008.11:g.53255365G>A, NC_000008.11:g.53255365=, NC_000008.10:g.54167925= +PA166181752 rs1267723490 PA124 CYP2C19 NC_000010.11:94842855 3 0 0 0 0 1267723490, NC_000010.11:g.94842855T>C, NP_000760.1:p.Ile327=, NC_000010.11:g.94842855=, NG_008384.3:g.85175T>C, rs1267723490, NG_008384.3:g.85175=, NC_000010.10:g.96602612T>C, NC_000010.10:g.96602612=, NP_000760.1:p.Ile327Thr +PA166260501 rs12678747 PA27931 EYA1 NC_000008.11:71202541 1 1 0 0 0 NC_000008.11:g.71202541A>T, NC_000008.10:g.72114776A>T, NC_000008.11:g.71202541=, 12678747, rs12678747, 58756648, NC_000008.10:g.72114776=, NG_011735.3:g.350590=, NG_011735.3:g.350590T>A +PA166157640 rs12681874 PA432 GGH NC_000008.11:63029783 2 0 0 0 0 NM_003878.2:c.275+384G>A, NC_000008.11:g.63029783C>T, rs60682287, XM_011517623.1:c.275+384G>A, 12681874, NC_000008.10:g.63942342=, 60682287, NG_028126.1:g.14269G>A, NC_000008.10:g.63942342C>T, NC_000008.11:g.63029783=, NG_028126.1:g.14269=, rs12681874 +PA166157838 rs12683493 NC_000009.12:133279490 1 0 0 0 0 NC_000009.11:g.136155063C>T, NG_006669.2:g.725G>A, NW_009646201.1:g.105584C>T, NG_006669.2:g.725=, NW_003315925.1:g.105584C>T, NC_000009.12:g.133279490=, rs12683493, NC_000009.12:g.133279490C>T, 12683493, NC_000009.11:g.136155063= +PA166155820 rs12693402 PA162410599 ZNF804A NC_000002.12:184943352 1 0 0 0 0 NC_000002.12:g.184943352C>T, rs59064216, rs17618226, 12693402, 59064216, NC_000002.11:g.185808079C>T, NC_000002.11:g.185808079=, NC_000002.12:g.184943352=, rs12693402, 17618226 +PA166288064 rs12693889 NC_000002.12:199608935 1 0 0 0 0 NC_000002.11:g.200473658=, NC_000002.12:g.199608935T>A, NC_000002.11:g.200473658T>G, NC_000002.12:g.199608935=, 12693889, 59740105, NC_000002.12:g.199608935T>G, NC_000002.11:g.200473658T>C, NC_000002.12:g.199608935T>C, rs12693889, NC_000002.11:g.200473658T>A +PA166288021 rs12693892 NC_000002.12:199619119 1 0 0 0 0 12693892, NC_000002.11:g.200483842=, NC_000002.12:g.199619119=, NC_000002.12:g.199619119A>G, rs12693892, NC_000002.11:g.200483842A>G +PA166165174 rs12701634 PA24779 AMPH NC_000007.14:38563899 1 0 0 0 0 56475296, NC_000007.14:g.38563899T>C, NC_000007.13:g.38603499=, 12701634, rs12701634, NC_000007.14:g.38563899=, NC_000007.13:g.38603499T>C +PA166303084 rs12703159 PA33752 PRKAG2 NC_000007.14:151807412 1 0 0 0 0 NG_007486.2:g.74820G>A, 12703159, NG_007486.2:g.74820=, NC_000007.13:g.151504498=, rs12703159, NC_000007.13:g.151504498C>T, NC_000007.14:g.151807412=, NC_000007.14:g.151807412C>T +PA166252967 rs12705169 PA34323 RELN NC_000007.14:103936441 1 0 0 0 0 rs12705169, NG_011877.2:g.58076A>T, NC_000007.14:g.103936441T>A, NC_000007.13:g.103576888=, NC_000007.14:g.103936441T>C, NC_000007.13:g.103576888T>A, NG_011877.2:g.58076A>C, 12705169, NC_000007.13:g.103576888T>C, NG_011877.2:g.58076=, NC_000007.14:g.103936441T>G, NG_011877.2:g.58076A>G, NC_000007.13:g.103576888T>G, 59960956, NC_000007.14:g.103936441= +PA166157456 rs12706832 PA228 LEP NC_000007.14:128247086 1 0 0 0 0 NC_000007.13:g.127887139=, 17533555, 59680706, NC_000007.14:g.128247086=, NM_000230.2:c.-28-4905A>G, XM_005250340.3:c.-28-4905A>G, rs12706832, XM_005250340.1:c.-28-4905A>G, NC_000007.13:g.127887139A>G, rs59680706, NC_000007.14:g.128247086A>G, 12706832, NG_007450.1:g.10809A>G, NG_007450.1:g.10809=, rs17533555 +PA166155113 rs12708954 PA310 SLC6A2 NC_000016.10:55697687 2 1 0 0 0 XM_011523297.1:c.1126-210C>A, rs12708954, XM_006721263.2:c.1261-210C>A, NM_001172504.1:c.1261-210C>A, XM_011523296.1:c.1126-210C>A, XM_011523300.1:c.538-210C>A, XM_011523298.1:c.1148-210C>A, NG_016969.1:g.47058C>A, NC_000016.10:g.55697687=, 12708954, NM_001172501.1:c.1261-210C>A, NG_016969.1:g.47058=, NM_001172502.1:c.946-210C>A, NC_000016.9:g.55731599=, NM_001043.3:c.1261-210C>A, NC_000016.10:g.55697687C>A, NC_000016.9:g.55731599C>A, XM_011523299.1:c.538-210C>A, XR_933403.1:n.1878-210C>A, XM_011523295.1:c.1261-210C>A +PA166155821 rs12712973 PA27809 EPAS1 NC_000002.12:46329494 1 0 0 0 0 NC_000002.11:g.46556633=, NC_000002.11:g.46556633A>T, 59714548, NG_016000.1:g.37093A>T, NM_001430.4:c.27-17379A>C, XM_011532698.1:c.65+3618A>C, NC_000002.12:g.46329494A>G, NG_016000.1:g.37093A>G, 12712973, NC_000002.12:g.46329494A>C, NG_016000.1:g.37093=, XR_940055.1:n.2355+6290T>G, NG_016000.1:g.37093A>C, NC_000002.12:g.46329494=, rs12712973, NC_000002.11:g.46556633A>C, NC_000002.11:g.46556633A>G, rs59714548, NC_000002.12:g.46329494A>T +PA166179895 rs12713837 PA36302 TACR1 NC_000002.12:75177828 1 0 0 0 0 NG_029522.1:g.26692=, 12713837, NC_000002.11:g.75404954C>G, NC_000002.12:g.75177828C>G, NG_029522.1:g.26692G>A, NC_000002.12:g.75177828C>T, NC_000002.11:g.75404954C>T, NG_029522.1:g.26692G>C, rs12713837, 57074493, NC_000002.12:g.75177828=, NC_000002.11:g.75404954= +PA166155822 rs12714145 PA28660 GGCX NC_000002.12:85560218 15 1 0 0 0 NG_011811.2:g.6317=, NC_000002.11:g.85787341=, XR_939677.1:n.279+597G>A, NC_000002.12:g.85560218C>A, XM_011532765.1:c.-444-1143G>A, rs59983638, XM_005264259.1:c.214+597G>A, NC_000002.11:g.85787341C>A, XM_005264259.3:c.214+597G>A, NM_001142269.3:c.44-1143G>A, NG_011811.2:g.6317G>T, NM_001311312.1:c.214+597G>A, 12714145, NC_000002.12:g.85560218C>T, rs12714145, XM_011532764.1:c.-445+597G>A, NC_000002.12:g.85560218=, 59983638, NM_000821.6:c.214+597G>A, NG_011811.2:g.6317G>A, NC_000002.11:g.85787341C>T +PA166159099 rs1271562 PA33677 PPP2R5E NC_000014.9:63507932 1 0 0 0 0 NC_000014.8:g.63974650A>T, rs1271562, 1271562, 74245188, NC_000014.8:g.63974650=, NC_000014.9:g.63507932=, NC_000014.9:g.63507932A>T +PA166179043 rs12717991 PA37301 VDR NC_000012.12:47865343 2 0 0 0 0 NC_000012.12:g.47865343=, NC_000012.11:g.48259126=, NG_008731.1:g.44689G>A, 56623196, NC_000012.12:g.47865343C>T, NC_000012.11:g.48259126C>T, 56707050, NG_008731.1:g.44689=, rs12717991, 12717991, 61335329 +PA166157457 rs12718541 PA140 DDC NC_000007.14:50482446 2 1 0 0 0 NM_001242886.1:c.831-2583T>C, NC_000007.14:g.50482446=, NC_000007.13:g.50550144A>G, NM_001242889.1:c.666-2583T>C, NM_001242888.1:c.711-2583T>C, NG_008742.1:g.88011T>C, 12718541, XM_005271745.1:c.831-2583T>C, XM_005271744.1:c.945-2583T>C, NC_000007.14:g.50482446A>G, NM_000790.3:c.945-2583T>C, XM_005271745.3:c.831-2583T>C, NM_001082971.1:c.945-2583T>C, NM_001242887.1:c.801-2583T>C, rs12718541, NC_000007.13:g.50550144=, NG_008742.1:g.88011=, XM_011515161.1:c.594-2583T>C +PA166161538 rs12720066 PA267 ABCB1 NC_000007.14:87540386 2 1 0 0 0 NG_011513.1:g.177863T>G, NC_000007.13:g.87169702=, NG_011513.1:g.177863=, 60917155, rs12720066, NC_000007.14:g.87540386=, NC_000007.14:g.87540386A>C, NC_000007.13:g.87169702A>C, 386525757, 12720066 +PA166157458 rs12720067 PA267 ABCB1 NC_000007.14:87540040 2 1 0 0 0 NG_011513.1:g.178209G>A, NC_000007.14:g.87540040=, NC_000007.13:g.87169356C>T, NC_000007.13:g.87169356=, 17276510, 60504551, rs12720067, NG_011513.1:g.178209=, NM_000927.4:c.2320-695G>A, rs60504551, NC_000007.14:g.87540040C>T, rs17276510, 12720067 +PA166179962 rs12720071 PA26681 CNR1 NC_000006.12:88141462 2 0 0 0 0 rs12720071, 12720071, 59780508, NC_000006.11:g.88851181=, NC_000006.11:g.88851181T>C, NC_000006.12:g.88141462T>C, NC_000006.12:g.88141462= +PA166157459 rs12720441 PA212 KCNH2 NC_000007.14:150950216 1 1 0 0 0 NP_001191727.1:p.Arg444Gly, rs45607339, NM_172056.2:c.2350C>T, rs12720441, NG_008916.1:g.32711C>T, NP_001191727.1:p.Arg444Trp, XP_011514488.1:p.Arg784Trp, NP_742053.1:p.Arg784Gly, XP_011514488.1:p.Arg784Gly, NM_000238.3:c.2350C>G, NM_001204798.1:c.1330C>T, NC_000007.13:g.150647304=, NC_000007.13:g.150647304G>A, NG_008916.1:g.32711C>G, NP_000229.1:p.Arg784=, NC_000007.13:g.150647304G>C, NP_742053.1:p.Arg784Trp, NC_000007.14:g.150950216=, XP_011514487.1:p.Arg684Trp, NG_008916.1:g.32711=, XP_011514487.1:p.Arg684Gly, XM_011516185.1:c.2050C>T, XM_011516186.1:c.2350C>T, NM_000238.3:c.2350C>T, NM_001204798.1:c.1330C>G, NM_172056.2:c.2350C>G, NC_000007.14:g.150950216G>A, NP_000229.1:p.Arg784Trp, NC_000007.14:g.150950216G>C, XM_011516185.1:c.2050C>G, XM_011516186.1:c.2350C>G, 45607339, NM_172057.2:c.1330C>G, NP_742054.1:p.Arg444Gly, NP_742054.1:p.Arg444Trp, NM_172057.2:c.1330C>T, NP_000229.1:p.Arg784Gly, 12720441 +PA166154935 rs12720461 PA27093 CYP1A2 NC_000015.10:74749010 4 0 0 0 0 NG_008431.2:g.31469C>T, NC_000015.9:g.75041351=, 59459319, NG_061543.1:g.5166=, NC_000015.10:g.74749010=, NG_055245.1:g.4680=, rs12720461, NG_008431.2:g.31469=, NG_055245.1:g.4680C>T, NC_000015.9:g.75041351C>T, NG_008431.1:g.31469C>T, NC_000015.10:g.74749010C>T, NM_000761.3:c.-10+113C>T, 12720461, NM_000761.4:c.-10+113C>T, NG_061543.1:g.5166C>T, rs59459319 +PA166153860 rs12720462 PA165 FMO1 NC_000001.11:171248552 1 1 0 0 0 rs58198621, 16864229, XM_006711242.2:c.-78C>A, rs12720462, NC_000001.11:g.171248552=, 17550689, NC_000001.11:g.171248552C>A, XM_005245035.1:c.-78C>A, XM_005245038.2:c.-78C>A, XM_006711241.2:c.-78C>A, rs16864229, NM_001282694.1:c.-78C>A, NM_002021.2:c.-69C>A, XR_922278.1:n.361-825G>T, NC_000001.10:g.171217691=, 59345966, XM_005245038.1:c.-78C>A, NC_000001.10:g.171217691C>A, NM_001282693.1:c.-78C>A, rs17550689, rs59345966, 12720462, 58198621, XM_005245034.1:c.-78C>A +PA166156450 rs12721226 PA43 AGTR1 NC_000003.12:148741522 1 1 0 0 0 NP_114438.2:p.Ala192Thr, NP_000676.1:p.Ala163=, 12721226, NG_008468.1:g.48652G>A, NM_032049.3:c.574G>A, NC_000003.12:g.148741522=, NC_000003.11:g.148459309G>A, NP_000676.1:p.Ala163Thr, NP_033611.1:p.Ala163Thr, NP_114038.4:p.Ala198Thr, NM_004835.4:c.592G>A, rs58583575, NM_009585.3:c.487G>A, 17231252, NP_004826.5:p.Ala198Thr, NM_031850.3:c.592G>A, NC_000003.11:g.148459309=, NG_008468.1:g.48652=, rs12721226, NM_000685.4:c.487G>A, NC_000003.12:g.148741522G>A, rs17231252, 58583575 +PA166156452 rs12721613 PA378 NR1I2 NC_000003.12:119807329 1 0 0 0 0 12721613, 58844532, rs45456591, rs61151865, NC_000003.12:g.119807329C>T, NM_003889.3:c.79C>T, NM_033013.2:c.79C>T, NC_000003.11:g.119526176=, NG_011856.1:g.31846C>T, XM_005247866.1:c.-87C>T, NP_148934.1:p.Pro27Ser, rs12721613, NM_022002.2:c.196C>T, rs58844532, NC_000003.11:g.119526176C>T, rs56553122, NC_000003.12:g.119807329=, 61151865, NP_003880.3:p.Pro27=, NP_003880.3:p.Pro27Ser, NG_011856.1:g.31846=, 56553122, 45456591, NP_071285.1:p.Pro66Ser +PA166156453 rs12721616 PA378 NR1I2 NC_000003.12:119810032 2 0 0 0 0 NC_000003.11:g.119528879=, NG_011856.1:g.34549=, NC_000003.12:g.119810032C>T, rs45439796, 12721616, NC_000003.12:g.119810032=, NM_003889.3:c.198-29C>T, rs12721616, XM_005247866.1:c.33-29C>T, NM_033013.2:c.198-29C>T, 45439796, NG_011856.1:g.34549C>T, NM_022002.2:c.315-29C>T, NC_000003.11:g.119528879C>T +PA166157460 rs12721627 PA130 CYP3A4 NC_000007.14:99768470 19 3 1 0 0 NC_000007.14:g.99768470G>C, 12721627, NP_059488.2:p.Thr185Ser, XM_011515841.1:c.554C>G, rs56915287, NG_008421.1:g.20716=, XM_011515842.1:c.554C>G, XP_011514143.1:p.Thr185Ser, 56915287, XP_011514144.1:p.Thr185Ser, NM_017460.5:c.554C>G, NM_001202855.2:c.554C>G, rs12721627, 28371754, NG_008421.1:g.20716C>G, NC_000007.13:g.99366093G>C, NP_001189784.1:p.Thr185Ser, NC_000007.14:g.99768470=, NP_059488.2:p.Thr185=, rs28371754, NC_000007.13:g.99366093= +PA166157461 rs12721629 PA130 CYP3A4 NC_000007.14:99762177 10 1 1 0 0 NC_000007.14:g.99762177=, NM_001202855.2:c.1114C>T, NP_059488.2:p.Leu373Phe, 45614732, NP_001189784.1:p.Leu372Phe, 12721629, NG_008421.1:g.27009C>T, NC_000007.13:g.99359800=, XP_011514144.1:p.Leu372Phe, NP_059488.2:p.Leu373=, XM_011515841.1:c.1117C>T, XM_011515842.1:c.1114C>T, rs45614732, NC_000007.13:g.99359800G>A, XP_011514143.1:p.Leu373Phe, rs12721629, NG_008421.1:g.27009=, NM_017460.5:c.1117C>T, NC_000007.14:g.99762177G>A +PA166157462 rs12721634 PA130 CYP3A4 NC_000007.14:99784038 16 1 1 0 0 NM_001202855.2:c.44T>C, 12721634, NG_008421.1:g.5148T>C, XM_011515841.1:c.44T>C, XM_011515842.1:c.44T>C, NP_059488.2:p.Leu15=, 386525810, NG_054901.1:g.7A>G, NP_001189784.1:p.Leu15Pro, NP_059488.2:p.Leu15Pro, NC_000007.14:g.99784038A>G, NG_008421.1:g.5148=, rs12721634, NC_000007.13:g.99381661=, NC_000007.13:g.99381661A>G, NM_017460.5:c.44T>C, XP_011514144.1:p.Leu15Pro, rs386525810, XP_011514143.1:p.Leu15Pro, NC_000007.14:g.99784038=, NG_054901.1:g.7= +PA166155465 rs12721646 PA27103,PA123 CYP2A7P1,CYP2B6 NC_000019.10:41009202 2 1 0 0 0 XM_011526546.1:c.646-17C>T, NC_000019.10:g.41009202C>G, NC_000019.9:g.41515107C>T, NG_007929.1:g.22904C>T, XM_005258570.1:c.646-17C>T, rs12721646, NG_007929.1:g.22904=, XM_005258569.3:c.646-17C>T, NC_000019.9:g.41515107=, NC_000019.10:g.41009202C>T, XM_011526547.1:c.646-17C>T, XM_005258569.1:c.646-17C>T, NC_000019.9:g.41515107C>G, 12721646, XM_011526550.1:c.365-3096C>T, 148630516, NC_000019.10:g.41009202=, rs148630516, XM_005258571.1:c.365-3096C>T, rs28399495, NM_000767.4:c.646-17C>T, XM_011526548.1:c.485-3096C>T, NG_007929.1:g.22904C>G, XM_006723050.2:c.646-17C>T, XM_011526549.1:c.55-17C>T, 28399495 +PA166155467 rs12721655 PA123 CYP2B6 NC_000019.10:41004377 5 1 0 0 0 XM_011526547.1:c.415A>G, 12721655, XP_011524849.1:p.Lys139Glu, XM_006723050.2:c.415A>G, XP_011524852.1:p.Lys99Glu, 56006122, XP_005258626.1:p.Lys139Glu, XP_011524850.1:p.Lys139Glu, NP_000758.1:p.Lys139=, XM_005258570.1:c.415A>G, XM_011526549.1:c.-145A>G, XP_011524848.1:p.Lys139Glu, rs56006122, NC_000019.9:g.41510282=, XM_005258569.1:c.415A>G, NC_000019.9:g.41510282A>G, NC_000019.10:g.41004377A>G, NC_000019.10:g.41004377=, XM_011526546.1:c.415A>G, XM_011526548.1:c.415A>G, NP_000758.1:p.Lys139Glu, XP_005258627.1:p.Lys139Glu, NM_000767.4:c.415A>G, XP_006723113.1:p.Lys139Glu, XP_005258628.1:p.Lys99Glu, rs12721655, XM_005258571.1:c.295A>G, NG_007929.1:g.18079=, XM_005258569.3:c.415A>G, NG_007929.1:g.18079A>G, XM_011526550.1:c.295A>G +PA166159112 rs12725107 NC_000001.11:106975683 1 0 0 0 0 rs12725107, NC_000001.11:g.106975683A>C, 12725107, NC_000001.11:g.106975683=, NC_000001.10:g.107518305=, NC_000001.10:g.107518305A>C +PA166153861 rs12729349 NC_000001.11:65104345 1 0 0 0 0 NC_000001.11:g.65104345G>A, NC_000001.11:g.65104345=, rs12729349, NC_000001.10:g.65570028=, NC_000001.10:g.65570028G>A, rs57454813, NC_000001.11:g.65104345G>C, 12729349, 57454813, NC_000001.10:g.65570028G>C +PA166183296 rs1274535931 PA126 CYP2C9 NC_000010.11:94981230 1 0 0 0 0 NG_008385.2:g.48073=, NC_000010.10:g.96740987=, NP_000762.2:p.Pro337=, 1274535931, NG_008385.1:g.47573C>A, NC_000010.10:g.96740987C>A, NP_000762.2:p.Pro337Thr, NC_000010.11:g.94981230C>A, NC_000010.11:g.94981230=, NG_008385.2:g.48073C>A, rs1274535931, NG_008385.1:g.47573= +PA166153862 rs12746200 PA271 PLA2G4A NC_000001.11:186880054 1 1 0 0 0 NC_000001.11:g.186880054A>T, NC_000001.10:g.186849186A>G, XM_011509641.1:c.136+9538A>G, NG_012203.1:g.56155A>T, NM_001311193.1:c.115+9538A>G, NC_000001.11:g.186880054=, NM_024420.2:c.115+9538A>G, XM_011509643.1:c.115+9538A>G, 17591911, NC_000001.10:g.186849186=, rs12746200, XM_011509642.1:c.115+9538A>G, NG_012203.1:g.56155A>G, XM_005245267.2:c.4+9310A>G, XM_005245267.1:c.4+9310A>G, XR_921838.1:n.176+9538A>G, 12746200, NG_012203.1:g.56155=, NC_000001.10:g.186849186A>T, NC_000001.11:g.186880054A>G, XM_005245268.1:c.115+9538A>G, rs17591911 +PA166184210 rs12749204 PA31942 OPRD1 NC_000001.11:28849701 4 0 0 0 0 NC_000001.10:g.29176213=, NC_000001.11:g.28849701=, 12749204, NC_000001.10:g.29176213A>G, rs12749204, NC_000001.11:g.28849701A>G, 56564297 +PA166258761 rs12749274 NC_000001.11:56417819 1 1 0 0 0 rs12749274, NC_000001.10:g.56883491G>A, NC_000001.10:g.56883491G>C, NC_000001.11:g.56417819G>C, NC_000001.10:g.56883491G>T, NC_000001.10:g.56883491=, 12749274, NC_000001.11:g.56417819G>A, NC_000001.11:g.56417819G>T, NC_000001.11:g.56417819= +PA166153863 rs12752688 NC_000001.11:171182499 1 0 0 0 0 rs12752688, NC_000001.10:g.171151638=, NC_000001.10:g.171151638C>T, NC_000001.11:g.171182499=, rs58312898, 58312898, XR_922278.1:n.508-14311G>A, NC_000001.11:g.171182499C>T, 12752688 +PA166199001 rs1275988 PA30060 KCNK3 NC_000002.12:26691496 2 2 0 0 0 NC_000002.12:g.26691496=, NG_033884.1:g.3784=, NC_000002.11:g.26914364C>T, NG_033884.1:g.3784C>T, 1275988, NC_000002.11:g.26914364=, rs1275988, 56931649, NC_000002.12:g.26691496C>T +PA166154154 rs12762549 PA116 ABCC2 NC_000010.11:99861014 3 1 0 0 0 rs61161342, NC_000010.10:g.101620771C>T, NC_000010.11:g.99861014C>G, 12762549, rs12762549, NC_000010.10:g.101620771=, NC_000010.11:g.99861014=, 61161342, NC_000010.11:g.99861014C>T, NC_000010.10:g.101620771C>G +PA166154155 rs12768009 PA124 CYP2C19 NC_000010.11:94766108 1 1 0 0 0 NG_008384.3:g.8428=, NC_000010.11:g.94766108G>A, NM_000769.2:c.168+3235G>A, NC_000010.10:g.96525865=, NM_000769.1:c.168+3235G>A, NC_000010.10:g.96525865G>A, NG_008384.2:g.8403G>A, NC_000010.11:g.94766108=, NG_032466.1:g.8621=, rs12768009, NG_008384.3:g.8428G>A, NG_032466.1:g.8621C>T, 12768009 +PA166154156 rs12769205 PA124 CYP2C19 NC_000010.11:94775367 680 48 48 0 0 rs28969424, 12769205, NC_000010.10:g.96535124A>G, 17882787, NG_008384.2:g.17662A>G, NG_008384.3:g.17687=, rs12769205, 28969424, NM_000769.1:c.332-23A>G, rs17882787, NC_000010.11:g.94775367=, NC_000010.11:g.94775367A>G, NC_000010.10:g.96535124=, NG_008384.3:g.17687A>G, NM_000769.2:c.332-23A>G +PA166203423 rs12769316 PA31600 NFKB2 NC_000010.11:102392994 1 0 0 0 0 12769316, NC_000010.11:g.102392994=, rs12769316, NG_033874.1:g.3885=, NC_000010.10:g.104152751=, NC_000010.10:g.104152751G>A, NC_000010.11:g.102392994G>A, NG_033874.2:g.3885=, NG_033874.2:g.3885G>A, NG_033874.1:g.3885G>A +PA166165392 rs12772169 NC_000010.11:94645572 1 0 0 0 0 61348943, NC_000010.11:g.94645572=, NC_000010.11:g.94645572C>T, NC_000010.10:g.96405329C>T, rs12772169, 12772169, NC_000010.10:g.96405329= +PA166203406 rs12772374 PA31600 NFKB2 NC_000010.11:102397154 2 0 0 0 0 NG_033874.2:g.8045A>G, NC_000010.10:g.104156911A>G, NG_033874.2:g.8045=, NG_033874.1:g.8045A>G, 12772374, NC_000010.10:g.104156911=, NC_000010.11:g.102397154=, NC_000010.11:g.102397154A>G, rs12772374, NG_033874.1:g.8045= +PA166182408 rs1277441 PA134975064 TAOK3 NC_000012.12:118168184 3 3 0 0 0 NG_051835.1:g.209762C>G, 60528442, NC_000012.11:g.118605989G>C, NC_000012.12:g.118168184=, rs1277441, NC_000012.11:g.118605989G>A, NG_051835.1:g.209762C>A, NC_000012.12:g.118168184G>T, NC_000012.12:g.118168184G>C, NC_000012.12:g.118168184G>A, NG_051835.1:g.209762=, 1277441, NG_051835.1:g.209762C>T, NC_000012.11:g.118605989=, NC_000012.11:g.118605989G>T +PA166181127 rs1277733 PA88 CACNB2 NC_000010.11:18273609 1 0 0 0 0 rs1277733, NC_000010.10:g.18562538=, 1277733, NG_016195.1:g.137933C>T, NG_016195.1:g.137933=, 60765094, NC_000010.10:g.18562538C>T, NC_000010.11:g.18273609=, NC_000010.11:g.18273609C>T, 17608981, 52797318 +PA166154157 rs12777823 NC_000010.11:94645745 10 1 0 1 0 rs56463295, rs59201782, 56463295, NC_000010.10:g.96405502G>A, rs12777823, NC_000010.11:g.94645745G>A, NC_000010.10:g.96405502=, 59201782, 12777823, NC_000010.11:g.94645745= +PA166154158 rs12777960 PA162381980 CCNY NC_000010.11:35252098 1 0 0 0 0 rs12777960, NC_000010.10:g.35541026C>A, NC_000010.10:g.35541026=, XM_011519362.1:c.-40+1472C>A, XM_011519364.1:c.-218+1472C>A, rs59091985, XM_011519363.1:c.-108+1472C>A, XM_011519358.1:c.-116+1472C>A, XM_011519359.1:c.-325+1472C>A, NC_000010.11:g.35252098=, 12777960, XM_011519360.1:c.-224+1472C>A, NM_181698.3:c.-9+1472C>A, XM_011519361.1:c.-103+1472C>A, NC_000010.11:g.35252098C>A, XM_011519365.1:c.-139+1472C>A, XM_011519366.1:c.-66+1472C>A, 59091985 +PA166154159 rs12782374 PA126 CYP2C9 NC_000010.11:94935594 4 1 0 0 0 NG_008385.2:g.2437G>A, NC_000010.11:g.94935594=, NC_000010.10:g.96695351=, NG_008385.1:g.1937=, NG_055435.1:g.1125=, NC_000010.10:g.96695351G>A, NC_000010.11:g.94935594G>A, 12782374, NG_055435.1:g.1125G>A, rs12782374, NG_008385.1:g.1937G>A, NG_008385.2:g.2437= +PA166180481 rs12786200 PA134962612 FAT3 NC_000011.10:92245852 1 0 0 0 0 NC_000011.10:g.92245852C>T, 60729501, NG_052813.1:g.26217C>T, rs12786200, 12786200, NC_000011.10:g.92245852=, NG_052813.1:g.26217=, NC_000011.9:g.91979018=, NC_000011.9:g.91979018C>T +PA166321341 rs12794714 PA134986407 CYP2R1 NC_000011.10:14892029 1 0 0 0 0 NC_000011.9:g.14913575=, rs12794714, NG_007936.1:g.5177=, NG_007936.1:g.5177C>T, NP_078790.2:p.Ser59=, NC_000011.10:g.14892029=, NC_000011.10:g.14892029G>A, 12794714, NC_000011.9:g.14913575G>A +PA166154466 rs12795437 PA213 KCNJ1 NC_000011.10:128860981 1 1 0 0 0 NG_009379.1:g.11393=, 12795437, NM_153766.2:c.-192+6192C>G, NC_000011.10:g.128860981G>C, NG_009379.1:g.11393C>G, NM_153765.2:c.30+5542C>G, NM_153764.2:c.-22+6192C>G, NM_153767.3:c.-192+5542C>G, NC_000011.10:g.128860981=, rs12795437, NC_000011.9:g.128730876G>C, NC_000011.9:g.128730876= +PA166154467 rs12800734 PA28976 GRIK4 NC_000011.10:120966045 1 1 0 0 0 XM_011542785.1:c.2483-1150G>A, NC_000011.9:g.120836754G>A, 17311512, XM_011542783.1:c.2483-1150G>A, XM_011542787.1:c.1505-1150G>A, XM_005271519.1:c.2267-1150G>A, rs12800734, NM_014619.4:c.2267-1150G>A, XM_011542786.1:c.1541-1150G>A, NG_042194.1:g.459300G>A, XM_011542784.1:c.2105-1150G>A, NC_000011.10:g.120966045=, rs17311512, 12800734, NM_001282470.2:c.2267-1150G>A, NG_042194.1:g.459300=, XM_011542788.1:c.1505-1150G>A, NC_000011.10:g.120966045G>A, NC_000011.9:g.120836754=, XM_005271520.1:c.2267-1150G>A +PA166154468 rs12806698 PA298,PA36195 RRM1,STIM1 NC_000011.10:4094744 8 2 0 0 0 NM_001033.4:c.-269C>A, NC_000011.10:g.4094744C>A, NG_027992.2:g.5051C>A, NC_000011.9:g.4115974C>T, XM_011520277.1:c.-382C>A, NM_001033.3:c.-269C>A, 12806698, 17554111, NC_000011.9:g.4115974=, rs12806698, NC_000011.10:g.4094744=, NC_000011.9:g.4115974C>A, XM_005253059.1:c.-382C>A, rs17554111, NC_000011.10:g.4094744C>T, NG_027992.2:g.5051=, NM_001318064.1:c.-382C>A, NG_016277.1:g.244042C>A, XM_005253058.1:c.-269C>A, NG_016277.1:g.244042=, NG_016277.1:g.244042C>T, NG_027992.2:g.5051C>T +PA166154642 rs12813888 PA83 CACNA1C NC_000012.12:2627452 1 0 0 0 0 XM_005253783.1:c.3838-6177A>C, XM_011521020.1:c.3994-6177A>C, XM_005253779.1:c.3838-6845A>C, NM_001129839.1:c.3829-6845A>C, XM_005253766.1:c.3898-6177A>C, XM_005253784.1:c.3838-6177A>C, NM_001129846.1:c.3829-6845A>C, XM_005253765.1:c.4039-6177A>C, NM_001129830.1:c.3829-6845A>C, NM_001129829.1:c.3829-6845A>C, XM_005253769.1:c.3838-6845A>C, XM_005253770.1:c.3838-6845A>C, NM_001129836.1:c.3829-6177A>C, XM_005253776.1:c.3838-6177A>C, XM_005253786.1:c.3829-6177A>C, XM_011521017.1:c.2989-6177A>C, 12813888, XM_005253785.1:c.3838-6177A>C, NC_000012.12:g.2627452=, NG_008801.2:g.661667=, NM_001129827.1:c.3889-6177A>C, NM_001129838.1:c.3829-6845A>C, XM_005253778.1:c.3838-6845A>C, XM_005253787.1:c.3838-6845A>C, rs12813888, NC_000012.12:g.2627452A>T, NC_000012.11:g.2736618=, XM_006719017.1:c.3919-6845A>C, NM_001129840.1:c.3829-6845A>C, NM_001129837.1:c.3829-6845A>C, XM_005253768.1:c.3898-6177A>C, NM_001129830.2:c.3829-6845A>C, NM_001129832.1:c.3889-6845A>C, NC_000012.11:g.2736618A>C, XM_011521022.1:c.3829-6177A>C, NM_001129842.1:c.3829-6177A>C, XM_011521023.1:c.3904-6845A>C, XM_005253781.1:c.3838-6845A>C, NM_001129844.1:c.3820-6177A>C, NM_001167625.1:c.3829-6845A>C, NC_000012.11:g.2736618A>T, NM_001167624.2:c.3829-6177A>C, XM_005253782.1:c.3838-6845A>C, XM_011521019.1:c.544-6177A>C, NM_001129831.1:c.3829-6177A>C, XM_005253771.1:c.3838-6177A>C, NM_199460.3:c.3889-6177A>C, XM_005253788.1:c.1651-6177A>C, NM_001129835.1:c.3829-6845A>C, NM_001129843.1:c.3829-6845A>C, XM_011521018.1:c.2434-6177A>C, NC_000012.12:g.2627452A>C, NM_001129834.1:c.3829-6845A>C, XM_005253773.1:c.3898-6845A>C, XM_005253774.1:c.3838-6845A>C, XM_005253772.1:c.3838-6177A>C, NM_001129841.1:c.3829-6177A>C, XM_005253777.1:c.3838-6177A>C, NG_008801.2:g.661667A>C, NM_000719.6:c.3829-6845A>C, XM_005253775.1:c.3838-6845A>C, NM_001129833.1:c.3829-6177A>C, XM_011521021.1:c.3829-6845A>C, XM_005253767.1:c.3838-6845A>C, XM_005253780.1:c.3838-6845A>C, NG_008801.2:g.661667A>T, NM_001167623.1:c.3829-6177A>C +PA166154643 rs12817819 PA25107 ATP2B1 NC_000012.12:89645549 2 1 0 0 0 XM_011538407.1:c.209-3194G>A, XM_011538411.1:c.209-3194G>A, NM_001682.2:c.209-3194G>A, XM_005268919.1:c.209-3194G>A, 12817819, XM_011538412.1:c.209-3194G>A, XM_005268920.1:c.209-3194G>A, NC_000012.12:g.89645549=, XM_011538409.1:c.209-3194G>A, NG_029485.1:g.15519=, NM_001001323.1:c.209-3194G>A, XM_005268918.1:c.209-3194G>A, NC_000012.11:g.90039326C>T, rs61608153, XM_011538408.1:c.209-3194G>A, XM_011538410.1:c.209-3194G>A, NG_029485.1:g.15519G>A, XR_945171.1:n.259-38C>T, NC_000012.11:g.90039326=, XM_005268921.1:c.209-3194G>A, NC_000012.12:g.89645549C>T, 61608153, rs12817819, NG_029485.2:g.68805G>A, XR_944556.1:n.671-3194G>A, NG_029485.2:g.68805= +PA166154644 rs12819210 PA143485373,PA31879 C12orf43,OASL NC_000012.12:121020597 1 1 0 0 0 NM_003733.3:c.1509G>A, NP_001248754.1:p.Ser373=, NP_003724.1:p.Ser503=, NM_001261825.1:c.1119G>A, rs58256009, rs12819210, NC_000012.12:g.121020597C>T, NC_000012.12:g.121020597=, NC_000012.11:g.121458400=, 58256009, NC_000012.11:g.121458400C>T, NM_198213.2:c.*499G>A, 12819210 +PA166154645 rs12819505 PA38104 WNT5B NC_000012.12:1647499 1 1 0 0 0 NC_000012.11:g.1756665=, rs12819505, NC_000012.11:g.1756665A>G, XM_011521026.1:c.*1247A>G, XM_005253794.1:c.*1247A>G, 12819505, XM_005253793.1:c.*1247A>G, NM_030775.2:c.*1247A>G, NC_000012.12:g.1647499A>G, NM_032642.2:c.*1247A>G, NC_000012.12:g.1647499=, XM_005253792.1:c.*1247A>G +PA166303482 rs12823621 PA134907925 FGD4 NC_000012.12:32602325 1 0 0 0 0 12823621, rs12823621, NC_000012.12:g.32602325=, NC_000012.12:g.32602325G>A, NG_008626.2:g.207797=, NG_008626.2:g.207797G>A, NC_000012.11:g.32755259=, 58653240, NC_000012.11:g.32755259G>A +PA166159458 rs12826 PA116 ABCC2 NC_000010.11:99852563 1 0 0 0 0 NG_011798.1:g.74858C>A, NC_000010.10:g.101612320=, NG_011798.1:g.74858=, NG_011798.2:g.74966C>A, NC_000010.10:g.101612320C>T, 60993883, 12826, 386526149, NC_000010.10:g.101612320C>A, NC_000010.11:g.99852563=, NG_011798.1:g.74858C>T, NG_011798.2:g.74966=, NC_000010.11:g.99852563C>T, rs12826, NC_000010.11:g.99852563C>A, NG_011798.2:g.74966C>T +PA166177721 rs12836771 PA194,PA164722409,PA164722546 HTR2C,MIR1264,MIR1912 NC_000023.11:114650913 1 0 0 0 0 NG_012082.2:g.71829A>G, rs12836771, NC_000023.10:g.113885388A>G, NG_012082.2:g.71829=, NC_000023.11:g.114650913=, NC_000023.11:g.114650913A>G, NC_000023.10:g.113885388=, 12836771 +PA166154750 rs12877323 PA28180 FLT1 NC_000013.11:28305784 1 0 0 0 0 NC_000013.11:g.28305784T>G, NC_000013.11:g.28305784T>C, NC_000013.11:g.28305784T>A, rs12877323, NG_012003.1:g.194345A>T, NM_002019.4:c.3815+894A>C, NC_000013.10:g.28879921=, NC_000013.11:g.28305784=, NC_000013.10:g.28879921T>G, NG_012003.1:g.194345A>G, NG_012003.1:g.194345=, NC_000013.10:g.28879921T>C, NG_012003.1:g.194345A>C, 12877323, NC_000013.10:g.28879921T>A +PA166154828 rs12885300 PA27338 DIO2 NC_000014.9:80211923 1 0 0 0 0 rs12885300, rs57587657, NM_000793.5:c.-53-398G>A, NM_001242503.1:c.-451G>A, NC_000014.9:g.80211923C>G, NC_000014.8:g.80678266C>T, NM_001242502.1:c.-451G>A, 12885300, NM_013989.4:c.-451G>A, 57587657, NC_000014.9:g.80211923C>T, NM_001007023.3:c.-451G>A, NR_038355.1:n.70+435C>T, NC_000014.8:g.80678266C>G, NC_000014.9:g.80211923C>A, NC_000014.8:g.80678266=, NC_000014.9:g.80211923=, NC_000014.8:g.80678266C>A +PA166289381 rs12885713 PA26035 CALM1 NC_000014.9:90397013 1 1 0 0 0 NC_000014.8:g.90863357C>G, NG_013338.1:g.5031C>G, rs12885713, NG_056700.1:g.289C>T, 12885713, NC_000014.9:g.90397013C>T, NC_000014.8:g.90863357C>A, NG_013338.1:g.5031C>T, NC_000014.8:g.90863357=, NC_000014.9:g.90397013=, NC_000014.9:g.90397013C>A, NC_000014.8:g.90863357C>T, NG_056700.1:g.289C>A, NG_013338.1:g.5031=, NG_056700.1:g.289=, NG_013338.1:g.5031C>A, NG_056700.1:g.289C>G, NC_000014.9:g.90397013C>G +PA166243733 rs1288601658 PA124 CYP2C19 NC_000010.11:94775185 6 0 0 0 0 rs1288601658, NG_008384.3:g.17505A>T, NC_000010.11:g.94775185A>T, NP_000760.1:p.His99=, NP_000760.1:p.His99Arg, NG_008384.3:g.17505=, NC_000010.10:g.96534942A>T, 1288601658, NC_000010.11:g.94775185=, NC_000010.10:g.96534942=, NG_008384.3:g.17505A>G, NC_000010.11:g.94775185A>G, NP_000760.1:p.His99Leu, NC_000010.10:g.96534942A>G +PA166154829 rs12894467 PA164722354,PA164722632 MIR1185-1,MIR300 NC_000014.9:101041390 1 0 0 0 0 NR_031575.1:n.-1587C>T, NC_000014.9:g.101041390C>T, rs60410947, NR_030582.1:n.28C>T, rs12894467, NC_000014.8:g.101507727=, 60410947, NC_000014.9:g.101041390=, NC_000014.8:g.101507727C>T, 12894467 +PA166257322 rs1289704600 PA126 CYP2C9 NC_000010.11:94942306 1 0 0 0 0 NC_000010.10:g.96702063=, NP_000762.2:p.Ala149=, NP_000762.2:p.Ala149Val, 1289704600, NC_000010.11:g.94942306=, NC_000010.10:g.96702063C>T, NG_008385.2:g.9149=, NC_000010.11:g.94942306C>T, NG_008385.2:g.9149C>T, rs1289704600 +PA166154936 rs12903202 PA24693 ALDH1A2 NC_000015.10:58014595 1 1 0 0 0 NC_000015.10:g.58014595A>G, NC_000015.9:g.58306793=, NM_001206897.1:c.55-314T>C, NG_012259.1:g.56114T>C, 12903202, NG_012259.1:g.56114T>A, NC_000015.10:g.58014595=, NG_012259.1:g.56114=, NC_000015.9:g.58306793A>G, NM_003888.3:c.118-314T>C, NM_170697.2:c.-663T>C, NC_000015.10:g.58014595A>T, rs12903202, NC_000015.9:g.58306793A>T, NM_170696.2:c.118-314T>C +PA166177404 rs12910333 NC_000015.10:81937599 1 0 0 0 0 12910333, NC_000015.9:g.82229940=, 59949388, NC_000015.10:g.81937599A>G, NC_000015.10:g.81937599=, NC_000015.9:g.82229940A>G, rs12910333 +PA166181355 rs12913988 PA25097 ATP10A NC_000015.10:25733326 1 0 0 0 0 12913988, rs12913988, 57060820, NG_009282.1:g.134877C>T, NC_000015.9:g.25978473=, NC_000015.10:g.25733326G>A, NC_000015.9:g.25978473G>A, NG_009282.1:g.134877=, NC_000015.10:g.25733326= +PA166175767 rs12917707 PA37199 UMOD NC_000016.10:20356368 1 0 0 0 0 NC_000016.10:g.20356368G>T, 12917707, rs12917707, NG_008151.1:g.1348=, NC_000016.10:g.20356368=, NC_000016.9:g.20367690=, NG_008151.1:g.1348C>A, NC_000016.9:g.20367690G>T +PA166316681 rs1292029455 PA27121 CYP4F2 NC_000019.10:15895601 1 0 0 0 0 NP_001073.3:p.Thr83Ile, NG_007971.2:g.7474C>T, NC_000019.9:g.16006411=, NC_000019.9:g.16006411G>A, NG_007971.2:g.7474C>A, NG_007971.2:g.7474=, NC_000019.10:g.15895601G>T, rs1292029455, NC_000019.10:g.15895601=, NC_000019.10:g.15895601G>A, NP_001073.3:p.Thr83=, NP_001073.3:p.Thr83Asn, NC_000019.9:g.16006411G>T, 1292029455 +PA166203152 rs12929610 PA58 ABCC6 NC_000016.10:16197770 1 0 0 0 0 NC_000016.10:g.16197770=, NC_000016.9:g.16291627G>A, rs12929610, 12929610, NG_007558.2:g.30702=, NC_000016.10:g.16197770G>A, NC_000016.9:g.16291627=, NG_007558.2:g.30702C>T +PA166203149 rs12934692 PA244 ABCC1 NC_000016.10:16006656 1 0 0 0 0 NC_000016.10:g.16006656C>A, NC_000016.10:g.16006656=, NC_000016.9:g.16100513C>T, NG_028268.1:g.62080C>G, NG_028268.1:g.62080C>A, NG_028268.2:g.62080C>T, 12934692, NG_028268.2:g.62080=, NC_000016.10:g.16006656C>T, NC_000016.9:g.16100513C>A, NC_000016.9:g.16100513=, NG_028268.2:g.62080C>G, rs12934692, NG_028268.1:g.62080C>T, NG_028268.1:g.62080=, NG_028268.2:g.62080C>A, NC_000016.9:g.16100513C>G, NC_000016.10:g.16006656C>G +PA166203153 rs12935089 PA58 ABCC6 NC_000016.10:16198271 1 0 0 0 0 NG_007558.2:g.30201=, rs12935089, 60211389, 12935089, NC_000016.10:g.16198271=, NC_000016.10:g.16198271C>T, NC_000016.9:g.16292128C>T, NG_007558.2:g.30201G>A, NC_000016.9:g.16292128= +PA166179699 rs1293732453 PA344 SULT1A3 NC_000016.10:30202747 4 4 0 0 0 NC_000016.10:g.30202747C>T, NP_808220.1:p.Arg144=, 1293732453, NC_000016.10:g.30202747=, NC_000016.9:g.30214068C>T, rs1293732453, NC_000016.9:g.30214068=, NP_808220.1:p.Arg144Cys +PA166198081 rs1294092 PA31945 OPRM1 NC_000006.12:154014538 1 0 0 0 0 NG_021208.2:g.9038A>G, 1294092, NC_000006.12:g.154014538A>G, rs1294092, 386526662, 60174688, 1772926, NC_000006.11:g.154335673A>G, NC_000006.12:g.154014538=, NG_021208.2:g.9038=, NC_000006.11:g.154335673= +PA166155250 rs12941497 PA31748 NR1D1 NC_000017.11:40099341 2 0 0 0 0 NC_000017.11:g.40099341G>C, rs60694665, NG_033084.1:g.6385C>G, rs12941497, NC_000017.11:g.40099341G>A, NC_000017.11:g.40099341=, NG_033084.1:g.6385=, NC_000017.10:g.38255594=, NC_000017.10:g.38255594G>C, NG_033084.1:g.6385C>T, 12941497, 60694665, NC_000017.10:g.38255594G>A, NM_021724.4:c.31+723C>T +PA166155251 rs12943590 PA162403847 SLC47A2 NC_000017.11:19716685 13 2 0 0 0 XM_011523673.1:c.-25+777C>T, XM_011523672.1:c.82-1468C>T, XM_006721457.2:c.-130C>T, XR_934000.1:n.-21C>T, XR_933998.1:n.-21C>T, rs12943590, NM_001099646.1:c.-130C>T, XM_011523675.1:c.-130C>T, NM_152908.3:c.-130C>T, XM_011523674.1:c.-25+777C>T, NG_052805.1:g.7295C>T, XR_934001.1:n.-21C>T, NM_001256663.1:c.-130C>T, XM_005256471.1:c.-25+1426C>T, XR_243543.3:n.732+1426C>T, NG_052805.1:g.7295=, XM_005256473.1:c.-130C>T, NC_000017.10:g.19619998=, NC_000017.11:g.19716685G>A, XR_933999.1:n.-21C>T, NC_000017.10:g.19619998G>A, NC_000017.11:g.19716685=, XM_006721455.2:c.-130C>T, XR_243543.1:n.1567+1426C>T, XM_005256472.1:c.-25+777C>T, 12943590 +PA166155252 rs12944940 NC_000017.11:66235598 1 0 0 0 0 NC_000017.11:g.66235598T>G, rs12944940, NC_000017.10:g.64231716T>G, NC_000017.11:g.66235598=, NC_000017.10:g.64231716T>A, NC_000017.10:g.64231716T>C, 12944940, NC_000017.11:g.66235598T>C, NC_000017.10:g.64231716=, NC_000017.11:g.66235598T>A +PA166155253 rs12946454 PA134897893,PA33389 ACBD4,PLCD3 NC_000017.11:45130754 2 1 0 0 0 rs12946454, XM_005257674.1:c.-2314A>T, XM_005257677.1:c.-2314A>T, XM_005257675.1:c.-2315A>T, XM_005257676.1:c.-2468A>T, NC_000017.11:g.45130754A>T, NM_001135704.1:c.-2315A>T, XM_005257679.1:c.-2311A>T, XM_005257684.1:c.-2311A>T, XM_005257678.1:c.-2311A>T, XM_011524253.1:c.163+1494T>A, 12946454, XM_005257683.1:c.-2311A>T, XM_005257673.1:c.-2311A>T, XM_005257680.1:c.-2468A>T, NC_000017.11:g.45130754=, XM_011525256.1:c.-2485A>T, NM_133373.4:c.163+1494T>A, XM_005257682.1:c.-2311A>T, NC_000017.10:g.43208121=, NC_000017.10:g.43208121A>T, XM_005257681.1:c.-2311A>T +PA166283722 rs12948059 PA30591 MAP2K6 NC_000017.11:69498353 1 1 0 0 0 NC_000017.11:g.69498353A>G, NG_029437.2:g.88657A>G, 12948059, NG_029437.2:g.88657=, rs12948059, NC_000017.10:g.67494494A>G, 59659656, NC_000017.11:g.69498353=, NC_000017.10:g.67494494= +PA166155254 rs12948783 PA134980674 RHBDF2 NC_000017.11:76503318 2 1 0 0 0 XM_011525251.1:c.-2127C>T, XM_005257669.2:c.-2602C>T, rs12948783, NC_000017.11:g.76503318G>T, XM_011525250.1:c.-2286C>T, NC_000017.10:g.74499400G>T, 117129397, NC_000017.11:g.76503318G>A, NM_024599.5:c.-2185C>T, NG_032852.1:g.3110C>A, NC_000017.10:g.74499400G>C, NC_000017.10:g.74499400G>A, XM_005257669.1:c.-2602C>T, NC_000017.11:g.76503318G>C, 60624663, NG_032852.1:g.3110C>G, NC_000017.11:g.76503318=, NC_000017.10:g.74499400=, XM_005257671.1:c.-2286C>T, NG_032852.1:g.3110C>T, rs60624663, XM_011525252.1:c.-2185C>T, NG_032852.1:g.3110=, XM_005257670.1:c.-2185C>T, rs117129397, 12948783 +PA166156759 rs1295686 PA199 IL13 NC_000005.10:132660151 2 1 0 0 0 NG_012090.1:g.6979=, NC_000005.10:g.132660151T>C, NG_012090.1:g.6979T>A, NG_012090.1:g.6979T>C, NC_000005.10:g.132660151T>A, 1295686, NC_000005.9:g.131995843=, NC_000005.9:g.131995843T>C, NC_000005.9:g.131995843T>A, 58093005, NC_000005.10:g.132660151=, 386526750, rs1295686, NM_002188.2:c.334-24T>C, rs386526750, rs58093005 +PA166155324 rs12956925 PA36601 TNFRSF11A NC_000018.10:62346407 1 0 0 0 0 NC_000018.9:g.60013640=, NM_001270949.1:c.76-1761G>A, NM_003839.3:c.76-1761G>A, XM_011526245.1:c.-43-1761G>A, 61486972, NC_000018.10:g.62346407=, NM_003839.2:c.76-1761G>A, NM_001270950.1:c.76-1761G>A, NG_008098.1:g.26093G>A, rs12956925, NC_000018.9:g.60013640G>A, NC_000018.10:g.62346407G>A, XR_935263.1:n.91-1761G>A, rs61486972, NM_001270951.1:c.76-1761G>A, XM_011526244.1:c.76-1761G>A, 12956925, NM_001278268.1:c.76-1761G>A, NG_008098.1:g.26093=, XM_005266777.1:c.76-1761G>A +PA166181825 rs12959468 NC_000018.10:15182382 1 0 0 0 0 12959468, NC_000018.9:g.15182381=, rs12959468, NC_000018.10:g.15182382G>A, NC_000018.9:g.15182381G>A, NC_000018.10:g.15182382= +PA166154981 rs12960 PA34670,PA145007789,PA36067 RPL13,SNORD68,SPG7 NC_000016.10:89553920 1 1 0 0 0 XM_006721264.2:c.2063G>A, rs17354997, NC_000016.10:g.89553920=, NG_008082.1:g.50524=, 730263, XP_006721327.1:p.Arg688Gln, NP_003110.1:p.Arg688Gln, rs730263, 16965809, NP_003110.1:p.Arg688=, XM_005256320.1:c.-21+6990G>A, rs1801445, 17354997, 1801445, NG_008082.1:g.50524G>A, NC_000016.10:g.89553920G>A, NM_003119.3:c.2063G>A, 12960, NC_000016.9:g.89620328=, rs12960, NC_000016.9:g.89620328G>A, rs16965809 +PA166155325 rs12969154 PA36601 TNFRSF11A NC_000018.10:62338910 2 0 0 0 0 NG_008098.1:g.18596G>A, XM_011526244.1:c.76-9258G>A, 61170109, NM_003839.2:c.76-9258G>A, NM_003839.3:c.76-9258G>A, XM_011526245.1:c.-44+2523G>A, NM_001270949.1:c.76-9258G>A, XM_005266777.1:c.76-9258G>A, NM_001278268.1:c.76-9258G>A, NC_000018.10:g.62338910=, rs12969154, NM_001270950.1:c.76-9258G>A, rs61170109, NC_000018.9:g.60006143=, XR_935263.1:n.91-9258G>A, NC_000018.10:g.62338910G>A, 12969154, NG_008098.1:g.18596=, NC_000018.9:g.60006143G>A, NM_001270951.1:c.76-9258G>A +PA166155326 rs12970134 NC_000018.10:60217517 1 0 0 0 0 12970134, 60401193, NC_000018.9:g.57884750G>A, NC_000018.10:g.60217517=, rs60401193, rs12970134, NC_000018.10:g.60217517G>A, NC_000018.9:g.57884750= +PA166170556 rs12975366 PA30383 LILRB5 NC_000019.10:54255498 1 0 0 0 0 NC_000019.9:g.54759361T>G, NC_000019.9:g.54759361T>C, NP_006831.2:p.Asp247Ala, NC_000019.10:g.54255498=, NP_006831.2:p.Asp247=, 12975366, rs12975366, NC_000019.10:g.54255498T>C, NP_006831.2:p.Asp247Gly, NC_000019.9:g.54759361=, NC_000019.10:g.54255498T>G +PA166155468 rs12979860 PA134952671,PA166049147 IFNL3,IFNL4 NC_000019.10:39248147 122 15 1 1 9 NG_055295.1:g.5710G>A, NC_000019.10:g.39248147=, NR_074079.1:n.429-152G>A, NC_000019.9:g.39738787=, NG_042193.1:g.1825=, XM_011526757.1:c.-1595G>A, 12979860, NG_055295.1:g.5710=, rs12979860, NC_000019.9:g.39738787C>T, NC_000019.10:g.39248147C>T, NM_001276254.2:c.151-152G>A, NG_042193.1:g.1825G>A +PA166155469 rs12980275 PA134952671 IFNL3 NC_000019.10:39241143 15 1 0 0 0 57533120, 12980275, rs12980275, NC_000019.10:g.39241143A>G, rs57533120, NC_000019.9:g.39731783=, 52807979, NC_000019.9:g.39731783A>G, rs52807979, NC_000019.10:g.39241143= +PA166185416 rs12984273 PA33329 PIP5K1C NC_000019.10:3647903 1 0 0 0 0 NG_012161.2:g.57545=, NC_000019.9:g.3647901C>T, 12984273, NC_000019.10:g.3647903=, NC_000019.10:g.3647903C>T, NG_012161.1:g.57545=, NG_012161.2:g.57545G>A, rs12984273, NG_012161.1:g.57545G>A, NC_000019.9:g.3647901= +PA166233885 rs129882 PA136,PA164723679 DBH,DBH-AS1 NC_000009.12:133658547 4 0 0 0 0 rs129882, NC_000009.12:g.133658547=, 129882, NC_000009.11:g.136523669=, NC_000009.12:g.133658547C>T, NC_000009.11:g.136523669C>T, NG_008645.1:g.27185C>T, NG_008645.1:g.27185= +PA166234021 rs129915 PA136 DBH NC_000009.12:133659796 4 0 0 0 0 61398250, NC_000009.12:g.133659796=, NG_008645.1:g.28434=, NC_000009.11:g.136524918=, NC_000009.12:g.133659796A>G, NG_008645.1:g.28434A>G, rs129915, 129915, NC_000009.11:g.136524918A>G +PA166155823 rs12995526 PA25094 ATIC NC_000002.12:215333248 6 0 0 0 0 NC_000002.12:g.215333248T>C, NC_000002.12:g.215333248T>A, rs12995526, NG_013002.1:g.26293T>C, NG_013002.1:g.26293=, NG_013002.1:g.26293T>A, NC_000002.11:g.216197971=, 17513754, 12995526, NM_004044.6:c.815-102T>C, NC_000002.11:g.216197971T>C, rs17513754, NC_000002.11:g.216197971T>A, NC_000002.12:g.215333248= +PA166155824 rs12999804 PA134920089 GALNT14 NC_000002.12:31022784 1 0 0 0 0 rs12999804, XM_011533104.1:c.448-29777T>A, rs58546060, NG_051040.1:g.120943T>C, NR_045602.1:n.903-29777T>A, NC_000002.12:g.31022784A>G, XM_011533106.1:c.43-29777T>A, NG_051040.1:g.120943T>A, rs59591816, NC_000002.11:g.31245650A>G, NM_001253826.1:c.315-56482T>A, NM_024572.3:c.130-29777T>A, 58546060, 12999804, NC_000002.11:g.31245650A>T, XM_005264559.1:c.25-29777T>A, XM_011533105.1:c.70-29777T>A, 59591816, NC_000002.12:g.31022784A>T, NM_001253827.1:c.70-29777T>A, NG_051040.1:g.120943=, NC_000002.12:g.31022784=, NC_000002.11:g.31245650= +PA166179492 rs13002976 NC_000002.12:10538412 1 0 0 0 0 13002976, NC_000002.12:g.10538412A>C, NC_000002.12:g.10538412A>T, NC_000002.11:g.10678538A>G, rs13002976, NC_000002.12:g.10538412=, NC_000002.12:g.10538412A>G, NC_000002.11:g.10678538=, NC_000002.11:g.10678538A>C, NC_000002.11:g.10678538A>T +PA166156908 rs130058 PA29549 HTR1B NC_000006.12:77463564 5 2 0 0 0 NC_000006.12:g.77463564=, NM_000863.2:c.-161A>T, NC_000006.11:g.78173281=, XR_942708.1:n.545-10962T>A, XR_942706.1:n.545-10962T>A, 130058, 17273665, NC_000006.11:g.78173281T>G, rs130058, NC_000006.12:g.77463564T>G, XR_942707.1:n.545-10962T>A, XR_942709.1:n.545-10962T>A, rs17273665, NC_000006.11:g.78173281T>A, NC_000006.12:g.77463564T>A +PA166184004 rs130060 PA29549 HTR1B NC_000006.12:77463033 6 4 0 0 0 NC_000006.11:g.78172750A>G, rs130060, NC_000006.12:g.77463033=, NP_000854.1:p.Phe124=, NC_000006.12:g.77463033A>G, 52794277, 386526862, 17273618, NP_000854.1:p.Phe124Cys, NP_000854.1:p.Phe124Ser, NC_000006.12:g.77463033A>C, 130060, NC_000006.11:g.78172750A>C, NC_000006.11:g.78172750= +PA166156909 rs130072 PA134942738 CCHCR1 NC_000006.12:31144707 1 1 0 0 0 NT_113891.3:g.2627138C>T, XM_005275423.1:c.1880G>A, NP_001099034.1:p.Arg716Gln, XM_005274995.1:c.1052G>A, XM_005274991.1:c.1880G>A, NC_000006.11:g.31112484C>T, XP_005275045.1:p.Arg627Gln, XR_247374.1:n.2174G>A, 11540820, NC_000006.11:g.31112484=, XM_005274994.1:c.1052G>A, XP_011546361.1:p.Arg627Gln, XM_005274990.1:c.1880G>A, XP_005275481.1:p.Arg627Gln, XM_011548247.1:c.2066G>A, XP_011545962.1:p.Arg591Gln, XP_011546550.1:p.Arg627Gln, NT_167245.2:g.2404029C>T, XP_011546548.1:p.Arg725Gln, XM_011547260.1:c.1052G>A, XM_005274988.3:c.1880G>A, XP_011546357.1:p.Arg627Gln, XP_011545556.1:p.Arg627Gln, XP_011545960.1:p.Arg627Gln, XM_005274989.1:c.1880G>A, XM_005274988.1:c.1880G>A, XM_005275422.1:c.2065+178G>A, XP_005275047.1:p.Arg627Gln, XP_005275195.1:p.Arg627Gln, XM_005274987.1:c.1880G>A, XM_011547255.1:c.1880G>A, XP_005272893.1:p.Arg627Gln, NM_001105564.1:c.2147G>A, XM_005274992.1:c.1880G>A, XM_011547256.1:c.1880G>A, XP_011546193.1:p.Arg627Gln, XP_011545562.1:p.Arg351Gln, XM_011547894.1:c.1772G>A, XM_005275424.1:c.1880G>A, XM_011547895.1:c.1772G>A, XP_006726067.1:p.Arg627Gln, rs118078470, XM_011547254.1:c.1880G>A, XP_005275326.1:p.Arg351Gln, XM_005275269.1:c.1052G>A, XM_011514704.1:c.1772G>A, XP_011546196.1:p.Arg591Gln, XP_005275048.1:p.Arg627Gln, XP_005272894.1:p.Arg627Gln, XM_005272840.1:c.1052G>A, XM_011514705.1:c.1772G>A, rs130072, XP_011545560.1:p.Arg591Gln, NT_167247.2:g.2488835C>T, XP_011546191.1:p.Arg627Gln, XP_011545557.1:p.Arg627Gln, rs116682468, XM_005275139.1:c.1798+178G>A, XP_011513007.1:p.Arg591Gln, XM_005274993.1:c.1772G>A, XP_011546192.1:p.Arg627Gln, NM_019052.3:c.1880G>A, XR_952943.1:n.2424G>A, NG_054878.1:g.18532=, XR_953005.1:n.2374G>A, XR_952828.1:n.2424G>A, XP_005275049.1:p.Arg627Gln, NC_000006.12:g.31144707C>T, NP_001099033.1:p.Arg680Gln, XP_005275051.1:p.Arg351Gln, XM_011514703.1:c.1880G>A, XR_952944.1:n.2402G>A, XP_011545558.1:p.Arg627Gln, XP_011546360.1:p.Arg627Gln, XP_005272889.1:p.Arg627Gln, XP_011545963.1:p.Arg591Gln, NM_001105563.1:c.2039G>A, XP_011546197.1:p.Arg591Gln, NT_167246.2:g.2455222C>T, XM_011547660.1:c.1772G>A, XM_011547661.1:c.1772G>A, XP_006725765.1:p.Arg627Gln, XM_011548246.1:c.2174G>A, XR_952829.1:n.2402G>A, XR_953006.1:n.2352G>A, XP_011546551.1:p.Arg627Gln, XM_011548245.1:c.2174G>A, XP_005275052.1:p.Arg351Gln, XP_011513006.1:p.Arg591Gln, XP_005275197.1:p.Arg351Gln, 130072, XM_011547890.1:c.1880G>A, NP_061925.2:p.Arg627=, rs59465152, XM_011547663.1:c.1052G>A, XM_011547892.1:c.1880G>A, XP_011545965.1:p.Arg351Gln, XP_005275194.1:p.Arg627Gln, XM_011547893.1:c.1880G>A, XP_011546358.1:p.Arg627Gln, XM_011548251.1:c.1052G>A, XP_005275325.1:p.Arg591Gln, XM_011548059.1:c.1880G>A, XM_005275137.1:c.1880G>A, XM_005275138.1:c.1880G>A, XM_011547891.1:c.1880G>A, 17516353, XM_011547257.1:c.1772G>A, XP_005272892.1:p.Arg627Gln, XM_005272834.1:c.1880G>A, XM_005272835.1:c.1880G>A, NG_054878.1:g.18532G>A, XP_011546194.1:p.Arg627Gln, XM_005272837.1:c.1880G>A, XM_005275268.1:c.1772G>A, XM_005272839.1:c.1052G>A, XP_011545961.1:p.Arg627Gln, XR_247390.1:n.2174G>A, XM_005272836.1:c.1880G>A, XM_011547658.1:c.1880G>A, XP_005272895.1:p.Arg591Gln, rs17516353, XM_011547657.1:c.1880G>A, XM_011547659.1:c.1880G>A, XP_005272890.1:p.Arg627Gln, XP_005275480.1:p.Arg627Gln, XP_011546553.1:p.Arg351Gln, XP_005275044.1:p.Arg627Gln, XP_011545959.1:p.Arg627Gln, XM_011547258.1:c.1772G>A, XM_005272833.1:c.1880G>A, XP_006725551.1:p.Arg627Gln, XM_005272832.1:c.1880G>A, XP_005275050.1:p.Arg591Gln, XP_011546547.1:p.Arg725Gln, XM_006726004.1:c.1880G>A, XM_011548249.1:c.1880G>A, XM_011514706.1:c.*343G>A, XM_005275140.1:c.1052G>A, XM_011548061.1:c.1772G>A, XM_011548248.1:c.1880G>A, XP_005275322.1:p.Arg627Gln, XM_006725488.1:c.1880G>A, XM_011548060.1:c.1772G>A, XM_005275267.1:c.1798+178G>A, XM_005272838.1:c.1772G>A, XM_011514702.1:c.2066G>A, rs11540820, 116682468, XM_011547662.1:c.*343G>A, XP_005272897.1:p.Arg351Gln, XP_005275323.1:p.Arg627Gln, XM_006725702.1:c.1880G>A, XP_011546363.1:p.Arg591Gln, XM_005272833.3:c.1880G>A, NC_000006.12:g.31144707=, XP_011513005.1:p.Arg627Gln, NP_061925.2:p.Arg627Gln, XP_011546552.1:p.Arg591Gln, NT_167248.2:g.2402725C>T, 118078470, XM_005275266.1:c.1880G>A, XP_005275046.1:p.Arg627Gln, 59465152, XP_011545559.1:p.Arg591Gln, XM_011548055.1:c.1880G>A, XM_011547889.1:c.1880G>A, XM_011548057.1:c.1880G>A, XP_011546359.1:p.Arg627Gln, XP_011513004.1:p.Arg689Gln, XM_005275265.1:c.1880G>A, XP_011546362.1:p.Arg591Gln, XM_011548058.1:c.1880G>A, XP_005272891.1:p.Arg627Gln, XP_005272896.1:p.Arg351Gln, XM_011548250.1:c.1772G>A, XP_011546549.1:p.Arg689Gln, XM_011547259.1:c.*343G>A, XM_011548056.1:c.1880G>A, XP_011546195.1:p.Arg627Gln +PA166207101 rs13009649 PA134915354 PNPT1 NC_000002.12:55666955 1 0 0 0 0 NG_033012.1:g.31956T>G, NC_000002.12:g.55666955=, NC_000002.12:g.55666955A>G, rs13009649, 17800563, NC_000002.11:g.55894090A>C, NG_033012.1:g.31956=, 13009649, NG_033012.1:g.31956T>C, NC_000002.11:g.55894090=, NC_000002.11:g.55894090A>G, NC_000002.12:g.55666955A>C +PA166207102 rs13015243 PA134915354 PNPT1 NC_000002.12:55643562 1 0 0 0 0 NG_033012.1:g.55349A>G, NC_000002.12:g.55643562T>C, NC_000002.11:g.55870697=, 13015243, NC_000002.11:g.55870697T>C, NC_000002.12:g.55643562=, rs13015243, NG_033012.1:g.55349= +PA166155825 rs13015258 PA27467 DPP4 NC_000002.12:162074215 1 0 0 0 0 NM_001935.3:c.-234A>C, XR_923538.1:n.100-569T>G, NC_000002.11:g.162930725T>G, XR_923536.1:n.-93T>G, XR_923541.1:n.-93T>G, XM_005246371.1:c.-234A>C, 13015258, XR_923534.1:n.-93T>G, XR_923542.1:n.-93T>G, XM_005246371.2:c.-234A>C, NC_000002.11:g.162930725=, XR_923539.1:n.82+117T>G, NC_000002.12:g.162074215=, XR_923537.1:n.-93T>G, XR_923540.1:n.-93T>G, rs13015258, XR_923533.1:n.-93T>G, XR_923543.1:n.-93T>G, XR_923535.1:n.-93T>G, NC_000002.12:g.162074215T>G +PA166155826 rs13015447 NC_000002.12:166521468 1 0 0 0 0 XR_923553.1:n.1142+20708A>C, 59761446, rs59761446, XR_923554.1:n.1425+20708A>C, rs13015447, NC_000002.11:g.167377978A>C, NC_000002.12:g.166521468A>C, 13015447, NC_000002.11:g.167377978=, NC_000002.12:g.166521468= +PA166155827 rs13015720 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233692353 2 1 1 0 0 NG_002601.2:g.107610=, NM_021027.2:c.855+19564G>A, rs17863782, NC_000002.12:g.233692353=, 13015720, NM_019075.2:c.855+54976G>A, XM_005246081.1:c.*1792G>A, NC_000002.11:g.234600999G>A, NM_001072.3:c.-652G>A, NC_000002.12:g.233692353G>A, NG_002601.2:g.107610G>A, NM_019077.2:c.855+9561G>A, NM_205862.1:c.-8+533G>A, XR_241241.1:n.941+19564G>A, 17863782, NC_000002.11:g.234600999=, XR_241240.1:n.-491G>A, rs13015720, NM_019076.4:c.855+73791G>A +PA166261984 rs1302192284 PA121 CYP2A6 NC_000019.10:40844634 1 1 0 0 0 1302192284, NC_000019.9:g.41350539=, NC_000019.9:g.41350539T>C, NC_000019.10:g.40844634=, NG_008377.1:g.10814A>G, NP_000753.3:p.Ile434=, rs1302192284, NP_000753.3:p.Ile434Val, NC_000019.10:g.40844634T>C, NG_008377.1:g.10814= +PA166155828 rs13031237 PA34321 REL NC_000002.12:60908994 2 0 0 0 0 NC_000002.12:g.60908994=, NC_000002.11:g.61136129=, XM_005264472.1:c.395-7883G>T, XM_005264471.1:c.395-7883G>T, rs56896973, 13031237, NM_001291746.1:c.395-7883G>T, XM_005264470.1:c.395-7883G>T, 52833967, NM_002908.3:c.395-7883G>T, XM_011533010.1:c.101-7883G>T, NC_000002.12:g.60908994G>T, NC_000002.11:g.61136129G>T, 56896973, rs13031237, rs52833967 +PA166242082 rs1303250043 PA130 CYP3A4 NC_000007.14:99763909 14 1 1 0 0 NC_000007.13:g.99361532=, NP_059488.2:p.His324=, NG_008421.1:g.25277=, NG_054907.1:g.379G>T, rs1303250043, NG_054907.1:g.379=, NP_059488.2:p.His324Gln, 1303250043, NC_000007.14:g.99763909G>T, NC_000007.14:g.99763909=, NC_000007.13:g.99361532G>T, NG_008421.1:g.25277C>A +PA166262041 rs1303839356 PA121 CYP2A6 NC_000019.10:40845962 1 1 0 0 0 NC_000019.9:g.41351867C>T, NP_000753.3:p.Val323=, NP_000753.3:p.Val323Met, 1303839356, NC_000019.10:g.40845962=, NC_000019.10:g.40845962C>T, NG_008377.1:g.9486=, rs1303839356, NG_008377.1:g.9486G>A, NC_000019.9:g.41351867= +PA166156140 rs13058338 PA34163 RAC2 NC_000022.11:37236730 6 2 0 0 0 rs52805510, 13058338, NC_000022.10:g.37632770T>G, NG_007288.1:g.12536A>C, NC_000022.11:g.37236730=, NC_000022.10:g.37632770=, NM_002872.3:c.108-3812A>T, NC_000022.11:g.37236730T>G, NM_002872.4:c.108-3812A>T, NG_007288.1:g.12536=, XM_006724286.2:c.108-3812A>T, 52805510, NC_000022.11:g.37236730T>A, NG_007288.1:g.12536A>T, rs13058338, NC_000022.10:g.37632770T>A +PA166156454 rs13059232 PA378 NR1I2 NC_000003.12:119802208 2 0 0 0 0 NC_000003.11:g.119521055T>G, NM_003889.3:c.-22-5021T>C, NM_022002.2:c.96-5021T>C, NM_033013.2:c.-22-5021T>C, rs61609472, NC_000003.12:g.119802208T>C, NC_000003.11:g.119521055T>C, NG_011856.1:g.26725=, NC_000003.12:g.119802208T>G, XM_005247866.1:c.-187-5021T>C, NC_000003.12:g.119802208=, rs13059232, NC_000003.11:g.119521055=, NG_011856.1:g.26725T>G, 13059232, NG_011856.1:g.26725T>C, 61609472 +PA166156455 rs13064411 PA134928828 CFAP44 NC_000003.12:113327793 1 1 0 0 0 XM_011512977.1:c.3903T>C, XM_011512978.1:c.3594T>C, XM_006713697.1:c.4122T>C, rs60450591, NP_001157968.1:p.Asp1381=, NC_000003.11:g.113046640=, XP_011511278.1:p.Asp1381=, XM_005247617.1:c.1848T>C, XP_006713760.1:p.Asp1374=, XR_427370.1:n.4800T>C, XP_005247673.1:p.Asp1425=, XP_011511279.1:p.Asp1301=, 117025946, XR_427371.2:n.4800T>C, NC_000003.11:g.113046640A>G, XP_005247674.1:p.Asp616=, rs117025946, XM_005247616.1:c.4275T>C, XM_005247617.2:c.1848T>C, XM_011512979.1:c.3243T>C, XM_011512976.1:c.4143T>C, rs13064411, XM_011512975.1:c.4275T>C, XP_006713759.1:p.Asp1425=, 60450591, XP_011511280.1:p.Asp1198=, NC_000003.12:g.113327793=, NC_000003.12:g.113327793A>G, NM_001164496.1:c.4143T>C, XP_011511277.1:p.Asp1425=, 13064411, XM_006713696.1:c.4275T>C, XP_011511281.1:p.Asp1081= +PA166156456 rs13064530 PA29456 HRH1 NC_000003.12:11224228 1 0 0 0 0 rs61238856, NC_000003.12:g.11224228G>A, NC_000003.11:g.11265914=, rs13064530, XM_011533652.1:c.-2025G>A, XM_011533654.1:c.-1817G>A, NC_000003.11:g.11265914G>A, NM_001098213.1:c.-35-34775G>A, 61238856, NM_001098211.1:c.-1867G>A, NC_000003.12:g.11224228=, 13064530, XM_011533653.1:c.-35-34775G>A, NM_001098212.1:c.-35-34775G>A +PA166180183 rs13093031 NC_000003.12:88809891 1 1 0 0 0 NC_000003.12:g.88809891A>G, NC_000003.11:g.88859041A>G, NC_000003.11:g.88859041=, NC_000003.12:g.88809891=, 57893413, rs13093031, 13093031 +PA166177107 rs13093500 PA162410152 ZNF385D NC_000003.12:21757155 1 1 0 0 0 NC_000003.11:g.21798647T>A, NC_000003.11:g.21798647T>C, rs13093500, 13093500, NC_000003.11:g.21798647=, NC_000003.12:g.21757155T>C, NC_000003.12:g.21757155T>A, NC_000003.12:g.21757155=, NC_000003.12:g.21757155T>G, NC_000003.11:g.21798647T>G +PA166156663 rs13104811 PA24933 AREG NC_000004.12:74529595 1 1 0 0 0 NW_003571035.1:g.13103G>A, NC_000004.12:g.74529595=, NC_000004.11:g.75395312G>A, NC_000004.12:g.74529595G>A, 13104811, rs13104811, NC_000004.12:g.74529595G>C, NC_000004.12:g.74529595G>T, NC_000004.11:g.75395312G>T, NC_000004.11:g.75395312=, NC_000004.11:g.75395312G>C +PA166156664 rs13120400 PA390 ABCG2 NC_000004.12:88112375 9 5 0 0 0 XM_005263354.2:c.1194+928A>G, NG_032067.2:g.123948=, XM_005263356.1:c.1188+928A>G, XM_011532420.1:c.1194+928A>G, XM_005263354.1:c.1194+928A>G, 13120400, NC_000004.12:g.88112375=, NC_000004.11:g.89033527=, NM_001257386.1:c.1194+928A>G, NC_000004.11:g.89033527T>C, rs13120400, NC_000004.12:g.88112375T>C, NM_004827.2:c.1194+928A>G, XM_005263356.2:c.1188+928A>G, XM_005263355.2:c.1194+928A>G, XM_005263355.1:c.1194+928A>G, NG_032067.2:g.123948A>G +PA166210007 rs13125415 PA24572 ADH1C NC_000004.12:99349295 1 1 0 0 0 34891868, NG_011718.1:g.8466T>C, NC_000004.12:g.99349295=, NC_000004.11:g.100270452=, NG_011718.1:g.8466=, rs13125415, 13125415, NC_000004.12:g.99349295A>G, NC_000004.11:g.100270452A>G +PA166210006 rs13129401 NC_000004.12:39403252 1 1 0 0 0 NC_000004.11:g.39404872A>G, rs13129401, NC_000004.12:g.39403252=, NC_000004.12:g.39403252A>G, NC_000004.12:g.39403252A>T, NC_000004.11:g.39404872=, NC_000004.11:g.39404872A>T, 58995348, 13129401 +PA166210008 rs13135092 PA134931507 SLC39A8 NC_000004.12:102276925 1 1 0 0 0 13135092, NC_000004.12:g.102276925A>G, NC_000004.12:g.102276925=, rs13135092, 112184987, NC_000004.11:g.103198082=, NG_047177.1:g.73574=, NG_047177.1:g.73574T>C, NC_000004.11:g.103198082A>G +PA166181277 rs13137622 PA390 ABCG2 NC_000004.12:88141361 1 1 0 0 0 NC_000004.12:g.88141361G>T, NC_000004.11:g.89062513=, NG_032067.2:g.94962C>A, NC_000004.11:g.89062513G>T, NG_032067.2:g.94962=, 58331482, rs13137622, 13137622, NC_000004.12:g.88141361= +PA166163480 rs13144136 PA164718067 CLNK NC_000004.12:10665285 1 1 0 0 0 NC_000004.11:g.10666909=, rs13144136, NC_000004.12:g.10665285G>T, NC_000004.11:g.10666909G>T, NC_000004.12:g.10665285=, 13144136 +PA166154780 rs1315115 PA134968746 NPAS3 NC_000014.9:33098544 1 0 0 0 0 NC_000014.8:g.33567750G>A, rs60875937, NC_000014.9:g.33098544G>T, XM_011537069.1:c.161+42550G>A, NC_000014.8:g.33567750G>T, NG_013036.1:g.164292=, NG_013036.1:g.164292G>T, NM_022123.2:c.51-116638G>A, XM_005267993.1:c.50+42534G>A, NG_013036.2:g.164292G>T, 60875937, XM_011537071.1:c.72-116638G>A, XM_005267991.2:c.161+42550G>A, XM_005267992.1:c.161+42550G>A, NM_001164749.1:c.140+42550G>A, NG_013036.2:g.164292G>A, NM_001165893.1:c.51-116638G>A, XM_011537067.1:c.140+42550G>A, XM_011537070.1:c.51-116638G>A, rs1315115, NG_013036.1:g.164292G>A, XM_005267991.1:c.161+42550G>A, 1315115, XM_005267992.2:c.161+42550G>A, XM_011537072.1:c.51-116638G>A, NC_000014.8:g.33567750=, NG_013036.2:g.164292=, XM_005267993.2:c.50+42534G>A, XM_005267994.1:c.72-116638G>A, NC_000014.9:g.33098544G>A, XM_011537068.1:c.140+42550G>A, NC_000014.9:g.33098544=, NM_173159.2:c.51-116638G>A +PA166259921 rs13169373 NC_000005.10:166918083 1 1 0 0 0 rs13169373, NC_000005.9:g.166345088C>T, 13169373, NC_000005.10:g.166918083=, NC_000005.9:g.166345088=, NC_000005.10:g.166918083C>T +PA166155343 rs13181 PA27848,PA142671588 ERCC2,KLC3 NC_000019.10:45351661 36 7 0 0 0 XM_005258640.1:c.2017A>C, 60606175, NC_000019.10:g.45351661T>G, XM_005258536.3:c.*128T>G, 13181, XP_005258698.1:p.Lys505Gln, NC_000019.9:g.45854919=, XM_005258639.1:c.2179A>C, rs17285142, XM_011526611.1:c.2173A>C, XM_005258537.1:c.*128T>G, XM_005258641.1:c.1513A>C, rs17359310, NM_000400.3:c.2251A>C, rs60606175, XM_005258536.1:c.*128T>G, NC_000019.9:g.45854919T>A, NP_000391.1:p.Lys751=, NC_000019.9:g.45854919T>G, 17285142, XP_005258696.1:p.Lys727Gln, NC_000019.10:g.45351661=, NC_000019.10:g.45351661T>A, 17359310, rs1052559, NP_000391.1:p.Lys751Ter, 1052559, rs17355147, NP_000391.1:p.Lys751Gln, rs13181, rs3170171, 3170171, NG_007067.2:g.23927A>C, NG_007067.2:g.23927=, XP_011524913.1:p.Lys725Gln, XM_005258539.1:c.*304T>G, NM_177417.2:c.*304T>G, rs3859422, 3859422, XM_005258538.1:c.*304T>G, XP_005258697.1:p.Lys673Gln, 17355147, NG_007067.2:g.23927A>T +PA166157725 rs1318383 PA38725 KCNT1 NC_000009.12:135776227 1 0 0 0 0 NG_033070.1:g.79043A>G, XM_011518880.1:c.2250+812A>G, 1318383, rs1318383, rs17596338, NC_000009.12:g.135776227A>T, XM_011518879.1:c.2484+812A>G, NC_000009.11:g.138668073=, NM_020822.2:c.2349+812A>G, NC_000009.11:g.138668073A>T, 56657062, XM_011518877.1:c.2484+812A>G, XM_011518881.1:c.1839+812A>G, 17596338, NG_033070.1:g.79043A>T, NC_000009.12:g.135776227=, NC_000009.12:g.135776227A>G, XM_005263407.1:c.2349+812A>G, NM_001272003.1:c.2214+812A>G, rs56657062, NC_000009.11:g.138668073A>G, NG_033070.1:g.79043=, XM_011518878.1:c.2493+812A>G +PA166178593 rs1319339 PA31945 OPRM1 NC_000006.12:154010049 1 0 0 0 0 NG_021208.2:g.4549=, NC_000006.11:g.154331184=, rs1319339, 1319339, NC_000006.11:g.154331184T>A, NC_000006.12:g.154010049=, NG_021208.2:g.4549T>C, 58409464, NG_021208.2:g.4549T>A, NC_000006.12:g.154010049T>C, NC_000006.11:g.154331184T>C, 386527388, NC_000006.12:g.154010049T>A, 1772931 +PA166176852 rs1319501 PA162396933 NAMPT NC_000007.14:106285307 3 0 0 0 0 NC_000007.14:g.106285307=, 61540659, NC_000007.14:g.106285307C>A, NC_000007.13:g.105925753C>A, NC_000007.13:g.105925753C>T, NC_000007.13:g.105925753C>G, 1319501, NC_000007.14:g.106285307C>T, rs1319501, 10366458, NC_000007.13:g.105925753=, NC_000007.14:g.106285307C>G +PA166184596 rs13195018 PA31945 OPRM1 NC_000006.12:154137816 1 0 0 0 0 NC_000006.12:g.154137816A>C, NC_000006.12:g.154137816A>T, NC_000006.11:g.154458951=, NG_021208.2:g.132316=, NC_000006.11:g.154458951A>C, 13195018, NG_021208.2:g.132316A>T, NC_000006.12:g.154137816=, NC_000006.11:g.154458951A>T, NG_021208.2:g.132316A>C, rs13195018 +PA166184669 rs13203628 PA31945 OPRM1 NC_000006.12:154139988 1 0 0 0 0 rs13203628, NG_021208.2:g.134488=, NG_021208.2:g.134488A>G, NC_000006.12:g.154139988=, NC_000006.11:g.154461123=, NC_000006.11:g.154461123A>G, NC_000006.12:g.154139988A>G, 13203628, 60320361 +PA166177183 rs13204353 PA134993202 TREML4 NC_000006.12:41237497 1 1 0 0 0 NC_000006.12:g.41237497=, NC_000006.11:g.41205235G>C, NC_000006.11:g.41205235=, NC_000006.11:g.41205235G>A, rs13204353, NC_000006.12:g.41237497G>A, NC_000006.12:g.41237497G>C, 13204353 +PA166157183 rs13207351 PA37302 VEGFA NC_000006.12:43770057 1 1 0 0 0 NM_001171630.1:c.-1190A>G, NM_001025368.2:c.-650A>G, NC_000006.12:g.43770057A>T, NM_001025369.2:c.-650A>G, rs57802586, NM_001171622.1:c.-650A>G, NM_001171626.1:c.-1190A>G, NC_000006.12:g.43770057A>G, NC_000006.12:g.43770057=, NM_001025367.2:c.-650A>G, NM_001287044.1:c.-2063A>G, NM_001171627.1:c.-1190A>G, NM_001171628.1:c.-1190A>G, NM_001025366.2:c.-650A>G, NM_001171629.1:c.-1190A>G, NM_001033756.2:c.-650A>G, 13207351, NG_008732.1:g.4842A>T, NC_000006.11:g.43737794A>G, rs13207351, NM_001204384.1:c.-1190A>G, 36208387, NG_008732.1:g.4842=, NM_001171625.1:c.-1190A>G, NM_001171624.1:c.-1190A>G, NM_001317010.1:c.-1190A>G, NC_000006.11:g.43737794A>T, NM_001171623.1:c.-1190A>G, NM_001204385.1:c.-650A>G, rs36208387, NG_008732.1:g.4842A>G, XM_005249363.1:c.-2063A>G, NC_000006.11:g.43737794=, NM_001025370.2:c.-650A>G, 57802586, NM_003376.5:c.-650A>G +PA166266481 rs13210472 NC_000006.12:33027304 1 1 0 0 0 NC_000006.11:g.32995081=, 13210472, rs13210472, NC_000006.12:g.33027304=, NC_000006.11:g.32995081A>C, 116139001, NC_000006.12:g.33027304A>C, 117545195 +PA166157184 rs13212041 PA29549 HTR1B NC_000006.12:77461407 1 0 0 0 0 NC_000006.12:g.77461407=, NC_000006.12:g.77461407C>T, XR_942708.1:n.545-13119C>T, XR_942709.1:n.545-13119C>T, rs13212041, NM_000863.2:c.*824G>A, XR_942706.1:n.545-13119C>T, XR_942707.1:n.545-13119C>T, NC_000006.11:g.78171124=, NC_000006.11:g.78171124C>T, 13212041 +PA166160101 rs13222222 PA38657 GLCCI1 NC_000007.14:8057258 1 0 0 0 0 13222222, NG_032073.1:g.93515A>C, rs13222222, NC_000007.14:g.8057258=, NC_000007.13:g.8096888=, NG_032073.1:g.93515=, NC_000007.13:g.8096888A>C, NC_000007.14:g.8057258A>C +PA166157463 rs13223171 PA26692 CNTNAP2 NC_000007.14:147252273 1 0 0 0 0 NC_000007.14:g.147252273C>T, NG_007092.3:g.1141273=, NG_007092.2:g.1140913=, NG_007092.3:g.1141273C>T, 13223171, NC_000007.13:g.146949365=, NG_007092.2:g.1140913C>T, NC_000007.14:g.147252273=, rs13223171, NC_000007.13:g.146949365C>T, NM_014141.5:c.1349-47868C>T +PA166303121 rs13224758 PA33752 PRKAG2 NC_000007.14:151807373 1 0 0 0 0 NC_000007.14:g.151807373G>A, NC_000007.13:g.151504459G>A, NC_000007.14:g.151807373=, 58122940, NG_007486.2:g.74859C>T, 13224758, rs13224758, NC_000007.13:g.151504459=, NG_007486.2:g.74859= +PA166179984 rs13229143 PA267 ABCB1 NC_000007.14:87590165 1 0 0 0 0 NC_000007.13:g.87219481G>C, NC_000007.14:g.87590165G>C, NC_000007.14:g.87590165=, NG_011513.1:g.128084=, 56728537, NG_011513.1:g.128084C>G, NC_000007.14:g.87590165G>A, NC_000007.13:g.87219481=, NG_011513.1:g.128084C>T, rs13229143, 13229143, NC_000007.13:g.87219481G>A +PA166185653 rs1323040 PA31945 OPRM1 NC_000006.12:154010889 2 1 0 0 0 NG_021208.2:g.5389A>G, NG_021208.2:g.5389=, NC_000006.12:g.154010889A>G, rs1323040, 1323040, NC_000006.12:g.154010889=, NC_000006.11:g.154332024A>G, NC_000006.11:g.154332024= +PA166179968 rs1323042 PA31945 OPRM1 NC_000006.12:154100709 2 0 0 0 0 NG_021208.2:g.95209G>C, 59082602, 17210415, NC_000006.11:g.154421844G>T, NC_000006.11:g.154421844=, NC_000006.12:g.154100709G>T, NG_021208.2:g.95209=, NG_021208.2:g.95209G>T, NC_000006.12:g.154100709=, NC_000006.11:g.154421844G>C, rs1323042, 1323042, NC_000006.12:g.154100709G>C +PA166157464 rs13233066 PA134887081 COL26A1 NC_000007.14:101445416 1 0 0 0 0 NC_000007.13:g.101088697G>C, rs13233066, 60100715, NC_000007.14:g.101445416=, NG_033785.2:g.87597G>A, rs52831560, NG_033785.2:g.87597G>C, NC_000007.13:g.101088697G>A, rs60100715, 13233066, NM_133457.4:c.282-2274G>A, NC_000007.14:g.101445416G>C, 52831560, NG_033785.2:g.87597=, NC_000007.14:g.101445416G>A, NM_001278563.2:c.282-2268G>A, NC_000007.13:g.101088697= +PA166181264 rs13233308 PA267 ABCB1 NC_000007.14:87615644 1 0 0 0 0 60320344, NG_011513.1:g.102605G>A, NC_000007.14:g.87615644=, NC_000007.13:g.87244960=, NG_011513.1:g.102605=, 13233308, NC_000007.13:g.87244960C>T, rs13233308, NC_000007.14:g.87615644C>T +PA166160087 rs13239966 PA38657 GLCCI1 NC_000007.14:8022863 1 0 0 0 0 13239966, rs13239966, NC_000007.14:g.8022863=, NC_000007.13:g.8062493C>T, NC_000007.14:g.8022863C>T, NC_000007.13:g.8062493=, NG_032073.1:g.59120C>T, NG_032073.1:g.59120= +PA166273941 rs1324052 NC_000013.11:37267207 1 0 0 0 0 34532092, NC_000013.11:g.37267207G>A, NC_000013.10:g.37841344=, NC_000013.11:g.37267207=, 1324052, rs1324052, NC_000013.10:g.37841344G>A +PA166157465 rs13242038 PA28992 GRM3 NC_000007.14:86685104 1 1 0 0 0 NC_000007.13:g.86314420=, rs13242038, NC_000007.14:g.86685104C>T, XM_011516089.1:c.-141+40232C>T, NC_000007.14:g.86685104=, 13242038, XM_005250289.1:c.100+40232C>T, XM_011516090.1:c.-141+40232C>T, XM_011516088.1:c.-141+40232C>T, NM_000840.2:c.-141+40232C>T, XM_005250287.1:c.84+40232C>T, NC_000007.13:g.86314420C>T +PA166160107 rs13242904 PA38657 GLCCI1 NC_000007.14:8059188 1 0 0 0 0 rs13242904, NC_000007.13:g.8098818=, NC_000007.13:g.8098818C>T, 13242904, NG_032073.1:g.95445=, NG_032073.1:g.95445C>T, NC_000007.14:g.8059188C>T, NC_000007.14:g.8059188= +PA166160091 rs13245462 PA38657 GLCCI1 NC_000007.14:8034978 1 0 0 0 0 13245462, rs13245462, NC_000007.13:g.8074608=, NC_000007.13:g.8074608C>T, NC_000007.14:g.8034978C>T, NG_032073.1:g.71235=, NC_000007.14:g.8034978=, NG_032073.1:g.71235C>T +PA166157642 rs13250096 PA28654 GFRA2 NC_000008.11:21718897 1 0 0 0 0 XM_011544485.1:c.480-12856G>C, NC_000008.10:g.21576409C>G, XM_005273472.1:c.837-12856G>C, XM_011544484.1:c.795-12856G>C, NC_000008.11:g.21718897C>G, NM_001165039.1:c.396-12856G>C, XM_006716327.2:c.795-12856G>C, 13250096, XM_005273473.1:c.795-12856G>C, XM_005273475.1:c.438-12856G>C, NG_029215.1:g.74938G>C, NM_001495.4:c.795-12856G>C, NC_000008.11:g.21718897=, NC_000008.10:g.21576409=, XM_005273475.2:c.438-12856G>C, NG_029215.1:g.74938=, NG_029215.2:g.74938=, XM_005273474.1:c.522-12856G>C, rs13250096, NM_001165038.1:c.480-12856G>C, NG_029215.2:g.74938G>C +PA166157643 rs13250975 PA31776 NRG1 NC_000008.11:32535292 1 1 0 0 0 NC_000008.11:g.32535292=, NG_012005.2:g.901071=, NM_001160001.1:c.38-60537A>G, NM_013962.2:c.746-60537A>G, 13250975, NM_001159995.1:c.38-60537A>G, NC_000008.10:g.32392809=, NC_000008.10:g.32392809A>G, 57207719, NG_012005.1:g.900542A>G, rs13250975, NM_001159999.1:c.38-60537A>G, NC_000008.11:g.32535292A>G, NG_012005.2:g.901071A>G, XM_011544512.1:c.122-60536A>G, XM_005273488.1:c.122-60537A>G, rs57207719 +PA166157644 rs13253389 PA17 NAT1 NC_000008.11:18214398 1 1 0 0 0 NM_001291962.1:c.-17-2479A>G, NM_001160171.3:c.-86+1624A>G, NM_000662.7:c.-86+4218A>G, NC_000008.10:g.18071907=, NG_012245.2:g.48937=, NG_012245.2:g.48937A>G, rs56448840, 13253389, NC_000008.10:g.18071907A>C, rs52801872, XM_005273678.1:c.-86+4443A>G, NC_000008.11:g.18214398=, NC_000008.10:g.18071907A>G, NG_012245.2:g.48937A>C, rs59927611, NM_001160176.3:c.-17-2479A>G, NC_000008.11:g.18214398A>T, NC_000008.11:g.18214398A>G, NC_000008.10:g.18071907A>T, NG_012245.2:g.48937A>T, XM_005273679.1:c.-86+1624A>G, NC_000008.11:g.18214398A>C, NM_001160172.3:c.-86+1853A>G, NM_001160175.3:c.-17-2479A>G, NM_001160179.2:c.-86+4443A>G, XM_011544687.1:c.-18+1624A>G, XM_005273677.1:c.-17-2479A>G, 52801872, NM_001160170.3:c.-86+1624A>G, rs13253389, XM_011544688.1:c.-18+1624A>G, NM_001160173.3:c.-86+3056A>G, 56448840, 59927611 +PA166170628 rs13260300 NC_000008.11:74567389 1 0 0 0 0 13260300, rs13260300, NC_000008.11:g.74567389C>T, NC_000008.11:g.74567389C>G, 17352082, NC_000008.11:g.74567389=, NC_000008.10:g.75479624=, NC_000008.10:g.75479624C>T, NC_000008.10:g.75479624C>G +PA166177337 rs13264774 PA28587 GATA4 NC_000008.11:11754806 1 0 0 0 0 NG_008177.2:g.82888=, NC_000008.11:g.11754806C>T, NC_000008.10:g.11612315C>A, NC_000008.10:g.11612315C>T, NC_000008.11:g.11754806C>A, NG_008177.2:g.82888C>A, NC_000008.11:g.11754806=, 61610907, rs13264774, NG_008177.2:g.82888C>T, 13264774, NC_000008.10:g.11612315= +PA166183292 rs1326630788 PA126 CYP2C9 NC_000010.11:94947917 2 1 1 0 0 NP_000762.2:p.Ile207=, NG_008385.1:g.14260=, NP_000762.2:p.Ile207Thr, rs1326630788, NC_000010.10:g.96707674=, NC_000010.11:g.94947917T>C, NC_000010.11:g.94947917=, NG_008385.1:g.14260T>C, NG_008385.2:g.14760=, NG_008385.2:g.14760T>C, 1326630788, NC_000010.10:g.96707674T>C +PA166157645 rs13266634 PA134915546 SLC30A8 NC_000008.11:117172544 5 2 0 0 0 NC_000008.11:g.117172544C>T, XP_011515183.1:p.Arg325Trp, NC_000008.10:g.118184783C>T, NM_001172813.1:c.826C>T, NC_000008.10:g.118184783=, rs13266634, XR_928570.1:n.1020+71G>A, NG_016991.1:g.227272=, NM_173851.2:c.973C>T, NP_001166285.1:p.Arg276Trp, NC_000008.11:g.117172544C>A, NG_016991.1:g.227272C>A, NM_001172815.1:c.826C>T, XP_011515184.1:p.Arg276Trp, 13266634, NP_776250.2:p.Arg325Trp, XM_011516881.1:c.973C>T, XP_005250866.1:p.Arg276Trp, 57876063, rs17813302, XR_928569.1:n.1020+71G>A, NM_001172811.1:c.826C>T, NP_001166282.1:p.Arg276Trp, NG_016991.1:g.227272C>T, NP_776250.2:p.Arg325=, NM_001172814.1:c.826C>T, NC_000008.10:g.118184783C>A, 17813302, XM_011516882.1:c.826C>T, NC_000008.11:g.117172544=, NM_001172815.2:c.826C>T, rs57876063, XM_005250809.1:c.826C>T, NP_001166286.1:p.Arg276Trp, NP_001166284.1:p.Arg276Trp +PA166170288 rs13269021 PA24792,PA30701 ANGPT2,MCPH1 NC_000008.11:6539242 1 0 0 0 0 13269021, NG_029483.1:g.29022C>A, NG_016619.2:g.137651=, NC_000008.10:g.6396763G>T, NC_000008.11:g.6539242G>A, NC_000008.11:g.6539242=, NG_029483.1:g.29022C>T, rs13269021, NG_016619.2:g.137651G>T, NC_000008.10:g.6396763G>A, NC_000008.11:g.6539242G>T, NC_000008.10:g.6396763=, NG_016619.2:g.137651G>A, NG_029483.1:g.29022= +PA166157646 rs13273672 PA142672368,PA28587 C8orf49,GATA4 NC_000008.11:11754872 2 1 0 0 0 NG_008177.2:g.82954=, NC_000008.11:g.11754872T>C, XM_005272386.1:c.913-174T>C, NC_000008.10:g.11612381=, NC_000008.11:g.11754872T>A, 13273672, XM_005272387.1:c.292-174T>C, NG_008177.2:g.82954T>C, XM_011543818.1:c.913-174T>C, NG_008177.2:g.82954T>A, NC_000008.11:g.11754872=, XM_011543817.1:c.913-174T>C, XM_005272384.1:c.913-174T>C, NC_000008.10:g.11612381T>C, XM_005272385.3:c.913-174T>C, NC_000008.10:g.11612381T>A, NM_002052.4:c.910-174T>C, XM_006716249.2:c.292-174T>C, XM_005272385.1:c.913-174T>C, rs60845489, 60845489, rs13273672, NM_001308094.1:c.292-174T>C, XM_006716248.1:c.913-174T>C, NM_001308093.1:c.913-174T>C +PA166177327 rs13275657 PA28587 GATA4 NC_000008.11:11743566 1 0 0 0 0 NG_008177.2:g.71648=, 13275657, NC_000008.11:g.11743566G>C, NC_000008.10:g.11601075=, NG_053896.1:g.4392G>C, NC_000008.11:g.11743566G>A, NG_053896.1:g.4392G>A, NG_053896.1:g.4392=, NC_000008.10:g.11601075G>A, NC_000008.10:g.11601075G>C, rs13275657, NG_008177.2:g.71648G>A, NG_008177.2:g.71648G>C, NC_000008.11:g.11743566= +PA166157647 rs13280604 PA26495 CHRNB3 NC_000008.11:42704443 2 0 0 0 0 rs13280604, XR_949716.1:n.908+1300C>T, NC_000008.10:g.42559586=, 13280604, NC_000008.11:g.42704443=, XR_949718.1:n.909-207C>T, NM_000749.3:c.53-4274G>A, NC_000008.11:g.42704443G>A, XR_949717.1:n.-1299C>T, NC_000008.10:g.42559586G>A +PA166179700 rs1328799050 PA344 SULT1A3 NC_000016.10:30203612 4 4 0 0 0 NC_000016.10:g.30203612G>A, NC_000016.9:g.30214933=, NC_000016.10:g.30203612=, NC_000016.9:g.30214933G>A, NC_000016.10:g.30203612G>T, rs1328799050, NP_808220.1:p.Lys234=, NC_000016.9:g.30214933G>T, NP_808220.1:p.Lys234Asn, 1328799050 +PA166153627 rs1329424 PA29261 CFH NC_000001.11:196677046 1 0 0 0 0 rs17515045, NG_007259.1:g.30036T>C, rs386527907, NG_007259.1:g.30036T>A, XM_005245111.1:c.428-430T>G, 386527907, NC_000001.11:g.196677046T>A, NG_007259.1:g.30036=, NC_000001.11:g.196677046T>C, NC_000001.11:g.196677046T>G, NC_000001.10:g.196646176T>G, NM_000186.3:c.428-430T>G, 17515045, NC_000001.10:g.196646176=, NC_000001.10:g.196646176T>A, XM_005245112.1:c.428-430T>G, NC_000001.10:g.196646176T>C, NM_001014975.2:c.428-430T>G, rs1329424, NG_007259.1:g.30036T>G, 1329424, NC_000001.11:g.196677046= +PA166153628 rs1329428 PA29261 CFH NC_000001.11:196733680 1 0 0 0 0 rs58125214, 1329428, rs1329428, NC_000001.11:g.196733680C>T, NC_000001.10:g.196702810C>T, NG_007259.1:g.86670=, NG_007259.1:g.86670C>G, NC_000001.10:g.196702810=, NM_000186.3:c.2414-3144C>T, 58125214, NG_007259.1:g.86670C>T, NC_000001.10:g.196702810C>G, NC_000001.11:g.196733680=, NC_000001.11:g.196733680C>G +PA166258301 rs13303344 NC_000001.11:2016961 1 0 0 0 0 NC_000001.11:g.2016961C>T, NC_000001.10:g.1948400C>A, 13303344, 59303420, NG_008168.1:g.2633C>T, NC_000001.10:g.1948400C>T, NC_000001.11:g.2016961=, rs13303344, NC_000001.11:g.2016961C>A, NG_008168.1:g.2633=, NC_000001.10:g.1948400=, NG_008168.1:g.2633C>A, 56557212 +PA166159656 rs1330344 PA24346 PTGS1 NC_000009.12:122369409 1 1 0 0 0 NC_000009.11:g.125131688=, 58866591, NC_000009.12:g.122369409=, NG_032900.1:g.3460C>T, 1330344, NG_032900.1:g.3460=, NC_000009.11:g.125131688C>T, rs1330344, NC_000009.12:g.122369409C>T +PA166197883 rs13306194 PA50 APOB NC_000002.12:21029662 1 0 0 0 0 NG_011793.1:g.19412=, NG_011793.1:g.19412C>T, NP_000375.3:p.Arg532Trp, NP_000375.3:p.Arg532=, NC_000002.12:g.21029662G>A, rs13306194, NC_000002.12:g.21029662=, 13306194, NC_000002.11:g.21252534=, NC_000002.11:g.21252534G>A +PA166279022 rs13306198 PA50 APOB NC_000002.12:21037212 1 0 0 0 0 NP_000375.3:p.Thr194=, rs13306198, NP_000375.3:p.Thr194Met, 13306198, NC_000002.12:g.21037212=, 52812599, NC_000002.11:g.21260084=, NG_011793.1:g.11862C>T, NG_011793.1:g.11862=, NC_000002.12:g.21037212G>A, NC_000002.11:g.21260084G>A +PA166156141 rs13306278 PA117,PA38302 COMT,TXNRD2 NC_000022.11:19941504 2 1 0 0 0 13306278, NG_011526.1:g.4765=, NG_011835.1:g.5333G>A, NM_006440.4:c.103+197G>A, NC_000022.10:g.19929027=, NM_001282512.1:c.103+197G>A, XM_005261216.1:c.103+197G>A, NM_006440.3:c.103+197G>A, XM_005261229.1:c.-779C>T, XM_011529891.1:c.-1057C>T, NC_000022.10:g.19929027C>T, NG_011526.1:g.4765C>T, NM_000754.3:c.-485C>T, XM_005261214.1:c.103+197G>A, rs13306278, NC_000022.11:g.19941504C>T, NC_000022.11:g.19941504=, XM_005261217.1:c.103+197G>A, XM_011529887.1:c.-485C>T, XM_011529890.1:c.-779C>T, NG_011835.1:g.5333= +PA166155114 rs13306673 PA321 SLC12A3 NC_000016.10:56867019 1 1 0 0 0 XM_005256119.1:c.283-54C>T, NM_001126108.1:c.283-51C>T, 13306673, NM_001126107.1:c.283-54C>T, NG_009386.2:g.6813C>T, rs13306673, NC_000016.9:g.56900931=, NG_009386.1:g.6813C>T, NC_000016.10:g.56867019=, NM_000339.2:c.283-51C>T, NG_009386.1:g.6813=, NC_000016.9:g.56900931C>T, NC_000016.10:g.56867019C>T, NG_009386.2:g.6813= +PA166157466 rs13306698 PA33529 PON1 NC_000007.14:95311470 1 0 0 0 0 rs61292918, 13306698, NG_008779.1:g.18103A>G, NC_000007.13:g.94940782=, NM_000446.5:c.478A>G, NC_000007.14:g.95311470=, NC_000007.13:g.94940782T>C, 61292918, NC_000007.14:g.95311470T>C, rs13306698, NG_008779.2:g.18237A>G, NG_008779.2:g.18237=, NP_000437.3:p.Arg160=, NP_000437.3:p.Arg160Gly +PA166157726 rs1333049 NC_000009.12:22125504 1 0 0 0 0 NC_000009.12:g.22125504G>A, NC_000009.12:g.22125504G>C, 59077428, NC_000009.11:g.22125503G>A, rs17761501, NC_000009.11:g.22125503G>C, 1333049, rs1333049, 17761501, rs59077428, rs58844516, NC_000009.11:g.22125503=, 58844516, NC_000009.12:g.22125504= +PA166201321 rs13338697 PA37398 WWOX NC_000016.10:78134009 2 0 0 0 0 NG_011698.1:g.39356A>T, rs13338697, NC_000016.10:g.78134009A>T, NG_011698.1:g.39356=, NC_000016.10:g.78134009=, NC_000016.9:g.78167906A>T, NG_011698.1:g.39356A>G, NC_000016.9:g.78167906=, 13338697, 57265351, NC_000016.9:g.78167906A>G, NC_000016.10:g.78134009A>G, 60199210 +PA166161286 rs1334802 PA28975 GRIK3 NC_000001.11:36930738 1 1 0 0 0 56967351, NC_000001.10:g.37396339C>T, rs1334802, NC_000001.11:g.36930738=, 1334802, NG_011447.1:g.108506=, NG_011447.1:g.108506G>A, 57543365, 386528225, NC_000001.10:g.37396339=, NC_000001.11:g.36930738C>T +PA166179519 rs1335150891 PA145 DPYD NC_000001.11:97234874 1 1 0 0 0 rs1335150891, NP_000101.2:p.His807Arg, NP_000101.2:p.His807=, NC_000001.10:g.97700430=, NG_008807.2:g.691186=, NG_008807.2:g.691186A>C, NC_000001.11:g.97234874=, NC_000001.11:g.97234874T>G, NP_000101.2:p.His807Pro, NC_000001.10:g.97700430T>C, NC_000001.11:g.97234874T>C, 1335150891, NC_000001.10:g.97700430T>G, NG_008807.2:g.691186A>G +PA166179571 rs1337512 PA164719488 EYS NC_000006.12:64483927 1 1 0 0 0 1337512, NC_000006.12:g.64483927=, 60430699, NC_000006.12:g.64483927T>G, NC_000006.11:g.65193820T>G, NG_023443.2:g.1228299A>C, NC_000006.11:g.65193820=, rs1337512, NG_023443.2:g.1228299= +PA166153864 rs13376631 PA165 FMO1 NC_000001.11:171266603 1 0 0 0 0 XM_005245038.2:c.133-940A>G, XM_005245038.1:c.133-940A>G, NC_000001.11:g.171266603A>G, NM_001282693.1:c.133-940A>G, rs60089092, XM_006711241.2:c.133-940A>G, XM_005245034.1:c.133-940A>G, NC_000001.10:g.171235742=, NM_001282692.1:c.145-940A>G, NM_001282694.1:c.132+8384A>G, NM_002021.2:c.133-940A>G, NC_000001.11:g.171266603=, 60089092, rs13376631, XM_005245035.1:c.132+8384A>G, XM_006711242.2:c.133-940A>G, 13376631, NC_000001.10:g.171235742A>G +PA166210022 rs13382553 PA162405776 THSD7B NC_000002.12:137506661 1 1 0 0 0 13382553, NC_000002.12:g.137506661A>G, rs13382553, NC_000002.11:g.138264231A>G, NC_000002.12:g.137506661=, NC_000002.11:g.138264231= +PA166321481 rs13386048 PA34202 RAMP1 NC_000002.12:237880275 1 0 0 0 0 NC_000002.12:g.237880275=, 76765148, 60923909, rs13386048, 13386048, NC_000002.11:g.238788917=, NC_000002.11:g.238788917G>A, NC_000002.12:g.237880275G>A +PA166253781 rs1339067 PA323 SLC15A1 NC_000013.11:98704358 1 0 0 0 0 NG_017032.1:g.53318T>C, NC_000013.11:g.98704358A>C, NC_000013.10:g.99356612A>C, 17779748, NC_000013.10:g.99356612A>G, NG_017032.1:g.53318T>A, 1339067, rs1339067, NC_000013.11:g.98704358A>T, NC_000013.11:g.98704358=, 57580461, NC_000013.10:g.99356612A>T, NG_017032.1:g.53318=, NC_000013.10:g.99356612=, NG_017032.1:g.53318T>G, NC_000013.11:g.98704358A>G, NP_005064.1:p.Ala449= +PA166155829 rs13393173 PA134925480 CERS6 NC_000002.12:168532581 2 1 0 0 0 rs17808636, 17808636, NM_001256126.1:c.171-15015G>A, NC_000002.12:g.168532581G>A, NC_000002.12:g.168532581=, rs13393173, NM_203463.2:c.171-15015G>A, NC_000002.11:g.169389091=, 59364706, 13393173, rs59364706, NC_000002.11:g.169389091G>A +PA166155830 rs13401281 PA37174,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233720033 1 0 0 0 0 NC_000002.11:g.234628679=, XR_241238.1:n.923+346T>G, NM_019075.2:c.856-47001T>G, NM_001072.3:c.861+26168T>G, XR_241241.1:n.942-47001T>G, NM_021027.2:c.856-47001T>G, NG_002601.2:g.135290T>A, NC_000002.11:g.234628679T>A, NM_019077.2:c.855+37241T>G, NC_000002.12:g.233720033=, NC_000002.12:g.233720033T>A, NC_000002.12:g.233720033T>G, NM_019076.4:c.856-47001T>G, NG_002601.2:g.135290T>G, 13401281, rs13401281, NC_000002.11:g.234628679T>G, NG_002601.2:g.135290=, NM_019078.1:c.867+6175T>G, XR_241240.1:n.1022+26168T>G, NM_205862.1:c.60+26168T>G, NM_007120.2:c.867+346T>G +PA166277141 rs1341164 PA125 CYP2C8 NC_000010.11:95041116 1 0 0 0 0 rs1341164, NC_000010.11:g.95041116T>C, NC_000010.11:g.95041116=, NG_007972.1:g.33382=, NC_000010.10:g.96800873=, NC_000010.10:g.96800873T>C, 1341164, NG_007972.1:g.33382A>G +PA166188961 rs13418420 PA37174,PA37183,PA419 UGT1A10,UGT1A8,UGT1A9 NC_000002.12:233670116 1 0 0 0 0 NG_002601.2:g.85373T>C, 17864682, NC_000002.11:g.234578762T>C, rs13418420, 13418420, NG_002601.2:g.85373=, NC_000002.12:g.233670116T>C, NC_000002.11:g.234578762=, NC_000002.12:g.233670116= +PA166155832 rs13422094 NC_000002.12:21958242 1 0 0 0 0 NC_000002.11:g.22181114T>C, 13422094, XR_939813.1:n.185+6266T>C, NC_000002.12:g.21958242T>C, rs13422094, NC_000002.12:g.21958242=, NC_000002.11:g.22181114= +PA166155833 rs13429709 PA28606 GCG NC_000002.12:162141450 2 1 0 0 0 NC_000002.12:g.162141450T>C, NC_000002.11:g.162997960T>A, NC_000002.11:g.162997960T>C, NC_000002.12:g.162141450T>G, NC_000002.11:g.162997960=, XR_241339.1:n.93-20320T>C, rs13429709, 13429709, NR_110255.1:n.93-20320T>C, NC_000002.12:g.162141450=, NC_000002.12:g.162141450T>A, NC_000002.11:g.162997960T>G +PA166155834 rs13431554 PA203 IRS1 NC_000002.12:226732872 1 1 0 0 0 NM_005544.2:c.*3400T>C, NG_015830.1:g.70919=, NG_015830.1:g.70919T>C, NC_000002.11:g.227597588A>G, NC_000002.12:g.226732872A>G, NC_000002.12:g.226732872=, NC_000002.11:g.227597588=, 13431554, rs13431554 +PA166155835 rs13432159 NC_000002.12:67746755 1 1 0 0 0 rs58028257, NC_000002.12:g.67746755=, NC_000002.11:g.67973887T>G, NC_000002.12:g.67746755T>G, NC_000002.11:g.67973887=, 13432159, rs13432159, 58028257 +PA166164989 rs13437088 NC_000006.12:31387342 1 0 0 0 0 13437088, 386528706, rs13437088, NC_000006.12:g.31387342=, 115515354, NC_000006.11:g.31355119C>T, 75967269, NC_000006.12:g.31387342C>T, NC_000006.11:g.31355119=, 117718335 +PA166155631 rs1344706 PA162410599 ZNF804A NC_000002.12:184913701 1 1 0 0 0 NC_000002.12:g.184913701A>T, NC_000002.11:g.185778428=, NM_194250.1:c.256-19902A>C, NG_046950.1:g.320336A>T, NC_000002.11:g.185778428A>C, NG_046950.1:g.320336=, NC_000002.12:g.184913701A>C, 386528769, rs1344706, 1344706, rs59623514, NC_000002.11:g.185778428A>T, rs386528769, 59623514, NC_000002.12:g.184913701=, NG_046950.1:g.320336A>C +PA166170030 rs1346044 PA367 WRN NC_000008.11:31167138 1 0 0 0 0 52814593, 1346044, NP_000544.2:p.Cys1367Arg, rs1346044, NC_000008.11:g.31167138T>C, 58743977, NG_008870.1:g.138877T>C, NC_000008.11:g.31167138=, 17847579, NC_000008.10:g.31024654=, NC_000008.10:g.31024654T>C, 2230015, NP_000544.2:p.Cys1367=, NG_008870.1:g.138877=, 17652782 +PA166154860 rs1346268 PA28590 GATM NC_000015.10:45380831 1 1 0 0 0 rs1346268, NC_000015.10:g.45380831T>C, NG_011674.2:g.26487A>G, NC_000015.10:g.45380831T>A, rs60883720, NC_000015.10:g.45380831T>G, NG_011674.2:g.26487A>C, XM_011521451.1:c.36-272A>G, NC_000015.9:g.45673029=, NG_011674.2:g.26487=, NG_011674.1:g.2952A>G, NC_000015.9:g.45673029T>A, NC_000015.9:g.45673029T>C, NG_011674.2:g.26487A>T, NC_000015.9:g.45673029T>G, NC_000015.10:g.45380831=, XM_011521450.1:c.32-262A>G, 60883720, 1346268 +PA166283381 rs1346563 PA24544 ADAMTS18 NC_000016.10:77402386 1 1 0 0 0 1346563, rs1346563, NG_031879.2:g.37729C>T, NC_000016.9:g.77436283G>A, NC_000016.10:g.77402386G>A, NG_031879.2:g.37729=, NC_000016.10:g.77402386=, NC_000016.9:g.77436283= +PA166181748 rs1349931378 PA124 CYP2C19 NC_000010.11:94820584 3 0 0 0 0 NG_008384.3:g.62904G>A, rs1349931378, NP_000760.1:p.Ser303Asn, NC_000010.11:g.94820584G>A, NC_000010.10:g.96580341G>A, NG_008384.3:g.62904=, NP_000760.1:p.Ser303=, NC_000010.11:g.94820584=, NC_000010.10:g.96580341=, 1349931378 +PA166226781 rs1350948 NC_000011.10:23496859 1 0 0 0 0 NC_000011.10:g.23496859=, NC_000011.9:g.23518405A>C, 111171478, rs1350948, NC_000011.9:g.23518405=, 12798666, 60824912, NC_000011.10:g.23496859A>C, NC_000011.10:g.23496859A>G, NC_000011.9:g.23518405A>T, 1350948, 59470570, NC_000011.9:g.23518405A>G, NC_000011.10:g.23496859A>T +PA166156030 rs13515 PA30616 MAPK1 NC_000022.11:21761597 1 0 0 0 0 NG_023054.2:g.111084=, rs17002472, rs3810612, NM_002745.4:c.*2653G>A, 3810612, NC_000022.11:g.21761597C>T, rs3204361, 3204361, NC_000022.10:g.22115886C>T, NG_023054.2:g.111084G>A, 17002472, rs13515, NC_000022.10:g.22115886=, NC_000022.11:g.21761597=, 13515 +PA166156509 rs1353295 PA24933 AREG NC_000004.12:74463405 1 1 0 0 0 NC_000004.12:g.74463405G>C, rs1797595, 1797595, NC_000004.12:g.74463405G>A, NC_000004.12:g.74463405=, rs59361263, NC_000004.11:g.75329122G>T, NC_000004.11:g.75329122=, 1353295, rs1353295, NC_000004.12:g.74463405G>T, NC_000004.11:g.75329122G>C, 59361263, NC_000004.11:g.75329122G>A +PA166266704 rs1353327 NC_000003.12:31461468 1 1 0 0 0 1353327, 58870218, NC_000003.11:g.31502960=, NC_000003.12:g.31461468=, NC_000003.11:g.31502960C>T, 111197179, rs1353327, 58601974, NC_000003.12:g.31461468C>T +PA166154781 rs1353411 PA287 PTGER2 NC_000014.9:52314383 1 1 0 0 0 NC_000014.9:g.52314383=, NC_000014.9:g.52314383G>A, NC_000014.9:g.52314383G>C, rs1353411, NG_013082.1:g.5086G>A, NC_000014.8:g.52781101G>C, NG_013082.1:g.5086G>C, NC_000014.8:g.52781101G>A, NM_000956.3:c.-166G>A, NC_000014.8:g.52781101=, 1353411, NG_013082.1:g.5086= +PA166156510 rs1355368 PA134968284 ADGRL3 NC_000004.12:61914104 1 1 0 0 0 52817664, NC_000004.12:g.61914104=, XM_011531788.1:c.2112+1347A>G, NM_015236.4:c.1908+1347A>G, NW_003315916.1:g.23912A>G, NG_033950.2:g.717849A>T, XM_011531793.1:c.2112+1347A>G, rs52817664, XM_011531789.1:c.2112+1347A>G, NC_000004.12:g.61914104A>T, XM_005265660.1:c.2112+1347A>G, XM_005265661.1:c.1908+1347A>G, XM_011531784.1:c.2097+1347A>G, XM_011531786.1:c.2112+1347A>G, NC_000004.11:g.62779822=, XM_011531791.1:c.2073+4359A>G, XM_011531790.1:c.2112+1347A>G, NC_000004.11:g.62779822A>T, NC_000004.12:g.61914104A>G, rs1355368, XM_011531785.1:c.2097+1347A>G, 1355368, XM_011531787.1:c.2073+4359A>G, XM_011531792.1:c.1908+1347A>G, NG_033950.1:g.421984A>G, NG_033950.2:g.717849=, NC_000004.11:g.62779822A>G, NG_033950.2:g.717849A>G +PA166156032 rs135543 PA280 PPARA NC_000022.11:46159422 1 1 0 0 0 59629438, NG_012204.2:g.13889=, XM_011530241.1:c.-140+7452C>T, 135543, NG_012204.2:g.13889C>T, XR_937870.1:n.188+7452C>T, NC_000022.11:g.46159422C>A, XM_005261653.1:c.-43+7448T>C, XM_011530239.1:c.-224+7452C>T, rs17248110, XR_244379.1:n.181+7448T>C, NM_001001928.2:c.-43+7448T>C, XM_005261655.1:c.-127+7448T>C, XM_011530240.1:c.-227+7452C>T, NG_012204.2:g.13889C>A, NM_001001928.2:c.-43+7448C>T, NC_000022.11:g.46159422C>T, XM_005261655.2:c.-127+7452C>T, XM_011530244.1:c.-633+7452C>T, XM_005261654.1:c.-40+7448T>C, 17248110, XM_006724270.2:c.-40+7452C>T, XR_937869.1:n.189+7452C>T, 5767347, rs5767347, NC_000022.10:g.46555321T>C, NC_000022.10:g.46555321T>A, XM_006724269.2:c.-124+7452C>T, rs135543, NM_005036.4:c.-127+7448C>T, NM_005036.4:c.-127+7448T>C, rs59629438, XM_011530245.1:c.-449+7452C>T, NG_012204.1:g.13823T=, NG_012204.1:g.13823T>A, NG_012204.1:g.13823T>C, NC_000022.11:g.46159422= +PA166156033 rs135550 PA280 PPARA NC_000022.11:46157339 1 1 0 0 0 XM_006724269.2:c.-124+5369T>C, NM_001001928.2:c.-43+5361C>T, NM_001001928.2:c.-43+5361T>C, XM_011530244.1:c.-633+5369T>C, 57651164, XM_006724270.2:c.-40+5369T>C, XM_005261653.1:c.-43+5361C>T, XM_011530240.1:c.-227+5369T>C, NC_000022.11:g.46157339T>C, XR_244379.1:n.181+5361C>T, NG_012204.2:g.11806=, XR_937870.1:n.188+5369T>C, XR_937869.1:n.189+5369T>C, 135550, NC_000022.10:g.46553234C>T, NC_000022.11:g.46157339=, XM_005261655.1:c.-127+5361C>T, XM_005261655.2:c.-127+5369T>C, XM_011530239.1:c.-224+5369T>C, NG_012204.1:g.11736C=, NG_012204.1:g.11736C>T, NM_005036.4:c.-127+5361C>T, NM_005036.4:c.-127+5361T>C, rs135550, XM_011530245.1:c.-449+5369T>C, XM_011530241.1:c.-140+5369T>C, rs57651164, rs5767340, XM_005261654.1:c.-40+5361C>T, 5767340, NG_012204.2:g.11806T>C +PA166156315 rs1355534 PA25294 BCHE NC_000003.12:165788069 2 0 0 0 0 NM_000055.2:c.1518-1758A>G, rs36152929, 1355534, NC_000003.12:g.165788069=, NG_009031.1:g.54397A>G, NC_000003.11:g.165505857=, rs1355534, 59339069, XM_005247685.1:c.1641-1758A>G, NC_000003.11:g.165505857T>C, NC_000003.12:g.165788069T>C, 36152929, NG_009031.1:g.54397=, rs59339069 +PA166156034 rs135561 PA280 PPARA NC_000022.11:46143764 1 0 0 0 0 NC_000022.11:g.46143764=, NC_000022.11:g.46143764G>A, rs60813550, NC_000022.11:g.46143764G>C, NC_000022.10:g.46539639A>T, rs135561, rs5769024, 60813550, 5769024, NC_000022.10:g.46539639A>G, 135561, NC_000022.11:g.46143764G>T, NC_000022.10:g.46539639A>C +PA166156035 rs135745 PA26953 CSNK1E NC_000022.11:38287631 1 0 0 0 0 NC_000022.10:g.38683637G>C, 135745, NC_000022.11:g.38287631=, rs135745, NC_000022.10:g.38683637=, NC_000022.11:g.38287631G>C, 60259115, rs60259115 +PA166156036 rs135757 PA26953 CSNK1E NC_000022.11:38307648 1 0 0 0 0 135757, NM_152221.2:c.77-4400T>C, NC_000022.10:g.38703653=, XM_005261345.1:c.77-4400T>C, XM_005261343.1:c.77-4400T>C, NC_000022.11:g.38307648A>T, NC_000022.10:g.38703653A>G, NM_001894.4:c.77-4400T>C, 59671347, rs135757, NM_001289912.1:c.77-4400T>C, NC_000022.11:g.38307648A>G, XM_005261344.1:c.77-4400T>C, XM_005261346.1:c.77-4400T>C, NG_016707.1:g.15437T>A, NG_016707.1:g.15437=, rs59671347, NC_000022.11:g.38307648=, NC_000022.10:g.38703653A>T, NG_016707.1:g.15437T>C +PA166161277 rs1360550 NC_000010.11:30198831 1 0 0 0 0 NC_000010.11:g.30198831=, NC_000010.10:g.30487760G>A, NC_000010.10:g.30487760G>C, NC_000010.11:g.30198831G>A, rs1360550, 1360550, 17568856, 58978356, NC_000010.11:g.30198831G>C, NC_000010.10:g.30487760= +PA166156983 rs1360780 PA28162 FKBP5 NC_000006.12:35639794 12 3 0 0 0 NM_001145776.1:c.106-2636A>G, NG_012645.2:g.93790A>G, NM_004117.3:c.106-2636A>G, NC_000006.12:g.35639794=, NC_000006.11:g.35607571=, NG_012645.2:g.93790=, NM_001145777.1:c.106-2636A>G, NC_000006.11:g.35607571T>C, NC_000006.11:g.35607571T>A, NM_001145775.2:c.106-2636A>G, NG_012645.2:g.93790A>T, XR_926743.1:n.287+5974T>C, rs58091271, NC_000006.12:g.35639794T>A, 58091271, rs1360780, NC_000006.12:g.35639794T>C, 1360780 +PA166155012 rs1362621 PA310 SLC6A2 NC_000016.10:55654572 1 0 0 0 0 NG_016969.1:g.3943G>A, NC_000016.9:g.55688484G>A, 58933589, NC_000016.10:g.55654572=, XM_011523295.1:c.-1649G>A, NM_001172501.1:c.-1649G>A, XM_011523296.1:c.-1649G>A, XM_011523298.1:c.-1649G>A, XM_011523297.1:c.-1649G>A, XR_933403.1:n.-1032G>A, NM_001043.3:c.-2123G>A, NG_016969.1:g.3943=, NC_000016.10:g.55654572G>A, 3760022, XR_933603.1:n.55-633C>T, rs3760022, rs58933589, NC_000016.9:g.55688484=, rs1362621, XM_006721263.2:c.-1832G>A, 1362621 +PA166156760 rs1364043 PA192 HTR1A NC_000005.10:63955024 1 1 0 0 0 NC_000005.9:g.63250851=, rs1364043, NC_000005.9:g.63250851T>G, 1364043, 59827628, NC_000005.10:g.63955024=, rs59827628, NC_000005.10:g.63955024T>G +PA166156511 rs1364805 NC_000004.12:106752691 1 1 0 0 0 NC_000004.12:g.106752691T>G, XR_939052.1:n.362-36545T>G, NC_000004.12:g.106752691T>C, 57093856, NC_000004.12:g.106752691T>A, XR_939054.1:n.360-36545T>G, NC_000004.11:g.107673848=, XR_939051.1:n.362-36545T>G, NC_000004.11:g.107673848T>G, 1364805, rs1364805, NC_000004.12:g.106752691=, NC_000004.11:g.107673848T>C, NC_000004.11:g.107673848T>A, rs57093856 +PA166157555 rs1367094 PA142670525 ZMAT4 NC_000008.11:40544855 1 1 0 0 0 NM_024645.2:c.675-12617G>A, XM_005273644.1:c.537-12617G>A, 1367094, NC_000008.11:g.40544855C>T, XM_011544645.1:c.477-12617G>A, NC_000008.11:g.40544855=, NC_000008.10:g.40402374C>A, rs1367094, XM_005273643.1:c.578-12617G>A, NC_000008.10:g.40402374C>G, XM_011544643.1:c.705-12617G>A, NC_000008.10:g.40402374=, NC_000008.11:g.40544855C>G, NC_000008.10:g.40402374C>T, XM_011544644.1:c.608-12617G>A, NM_001135731.1:c.447-12617G>A, NC_000008.11:g.40544855C>A +PA166155632 rs1367117 PA50 APOB NC_000002.12:21041028 3 2 0 0 0 117604440, 57336814, NC_000002.12:g.21041028=, NM_000384.2:c.293C>T, NP_000375.3:p.Thr98Ile, rs117604440, NC_000002.11:g.21263900G>A, NC_000002.12:g.21041028G>A, NP_000375.2:p.Thr98Ile, NC_000002.11:g.21263900=, NP_000375.3:p.Thr98=, NG_042873.1:g.41=, XP_011531111.1:p.Thr98Ile, XM_011532809.1:c.293C>T, NG_042873.1:g.41G>A, 17246849, rs1367117, NG_011793.1:g.8046C>T, NG_011793.1:g.8046=, rs17246849, rs57336814, 1367117 +PA166162478 rs1371097 PA32868 P2RY1 NC_000003.12:152834401 1 0 0 0 0 NC_000003.12:g.152834401C>A, NG_032896.2:g.4455C>A, 1371097, NG_032896.2:g.4455=, rs1371097, NC_000003.12:g.152834401C>T, 3755712, NC_000003.12:g.152834401=, NC_000003.11:g.152552190C>T, NC_000003.11:g.152552190C>A, NC_000003.11:g.152552190=, NG_032896.2:g.4455C>T +PA166155633 rs1374385 PA29253 HES6 NC_000002.12:238241004 1 0 0 0 0 NM_018645.5:c.-1099G>C, NC_000002.12:g.238241004=, 1374385, rs1374385, NM_001282434.1:c.-1099G>C, NM_001142853.2:c.-1099G>C, XM_005246095.1:c.-1099G>C, XM_005246096.1:c.-1099G>C, NC_000002.11:g.239149645C>G, NC_000002.12:g.238241004C>G, NC_000002.11:g.239149645= +PA166155634 rs1374749 PA27809 EPAS1 NC_000002.12:46369294 1 0 0 0 0 58613482, NG_016000.1:g.76893=, rs1374749, NG_016000.1:g.76893G>A, NM_001430.4:c.780-533G>A, 1374749, NC_000002.11:g.46596433=, NC_000002.12:g.46369294=, rs58613482, NC_000002.12:g.46369294G>A, NC_000002.11:g.46596433G>A, XM_011532698.1:c.819-533G>A +PA166170289 rs1375668 PA24792,PA30701 ANGPT2,MCPH1 NC_000008.11:6539349 1 0 0 0 0 1375668, NG_016619.2:g.137758G>C, NG_029483.1:g.28915=, NG_016619.2:g.137758G>A, NG_029483.1:g.28915C>T, rs1375668, 57234012, NC_000008.11:g.6539349=, NC_000008.10:g.6396870G>C, NC_000008.11:g.6539349G>C, NC_000008.10:g.6396870G>A, NC_000008.11:g.6539349G>A, NG_029483.1:g.28915C>G, NC_000008.10:g.6396870=, NG_016619.2:g.137758= +PA166155904 rs137852808 PA26487 CHRNA1 NC_000002.12:174748184 1 0 0 0 0 NG_008172.1:g.21289=, NC_000002.11:g.175612912=, NM_001039523.2:c.1389C>G, rs137852808, NP_000070.1:p.Cys438Trp, NG_008172.1:g.21289C>G, NP_001034612.1:p.Cys463Trp, NP_000070.1:p.Cys438=, NC_000002.11:g.175612912G>A, NC_000002.11:g.175612912G>C, NC_000002.12:g.174748184=, NG_008172.1:g.21289C>T, NC_000002.12:g.174748184G>A, 137852808, NC_000002.12:g.174748184G>C, NM_000079.3:c.1314C>G +PA166186034 rs137854601 PA304 SCN5A NC_000003.12:38551022 1 0 0 0 0 rs137854601, NC_000003.12:g.38551022C>A, NC_000003.11:g.38592513C>T, NC_000003.11:g.38592513=, NP_000326.2:p.Glu1783=, 137854601, NG_008934.1:g.103651G>A, NG_008934.1:g.103651G>T, NP_000326.2:p.Glu1783Ter, NC_000003.12:g.38551022C>T, NC_000003.11:g.38592513C>A, NP_000326.2:p.Glu1783Lys, NG_008934.1:g.103651=, NC_000003.12:g.38551022= +PA166320028 rs137878450 PA145 DPYD NC_000001.11:97082431 1 0 0 0 0 NC_000001.11:g.97082431=, NP_000101.2:p.Gly936Cys, 137878450, rs137878450, NC_000001.10:g.97547987C>A, NC_000001.11:g.97082431C>A, NC_000001.10:g.97547987=, NP_000101.2:p.Gly936=, NG_008807.2:g.843629G>T, NG_008807.2:g.843629= +PA166154861 rs1378942 PA26946 CSK NC_000015.10:74785026 2 1 0 0 0 NC_000015.10:g.74785026=, 60607055, NC_000015.9:g.75077367C>A, rs1378942, NC_000015.10:g.74785026C>A, XM_005254165.1:c.-66+503C>A, XM_005254165.3:c.-66+503C>A, 1378942, rs60607055, NC_000015.10:g.74785026C>T, NC_000015.9:g.75077367C>T, NM_001127190.1:c.-66+2306C>A, NC_000015.9:g.75077367=, NM_004383.2:c.-66+2306C>A +PA166262003 rs137904044 PA121 CYP2A6 NC_000019.10:40845465 1 1 0 0 0 137904044, rs137904044, NC_000019.9:g.41351370=, NG_008377.1:g.9983=, NG_008377.1:g.9983G>T, NC_000019.10:g.40845465C>A, NC_000019.9:g.41351370C>A, NP_000753.3:p.Glu330Asp, NC_000019.10:g.40845465=, NP_000753.3:p.Glu330= +PA166157556 rs1379357 PA162397442 NEFM NC_000008.11:24924066 1 0 0 0 0 NC_000008.11:g.24924066G>T, NC_000008.11:g.24924066G>C, NC_000008.10:g.24781579G>A, NC_000008.10:g.24781579=, NC_000008.10:g.24781579G>C, XR_949590.1:n.42+524C>G, NC_000008.10:g.24781579G>T, NC_000008.11:g.24924066=, rs1379357, 1379357, NC_000008.11:g.24924066G>A +PA166153921 rs137999090 PA145 DPYD NC_000001.11:97373598 1 0 0 1 0 rs137999090, XM_005270562.3:c.1805G>A, XR_947621.1:n.1125-1930C>T, NP_000101.2:p.Gly674=, NP_000101.2:p.Gly674Asp, XP_005270618.1:p.Gly637Asp, XM_005270562.1:c.1805G>A, NC_000001.11:g.97373598=, XR_947620.1:n.1124+6397C>T, 137999090, XM_006710397.2:c.2021G>A, NC_000001.11:g.97373598C>T, XP_005270619.2:p.Gly602Asp, XM_005270561.1:c.1910G>A, XP_005270620.1:p.Gly674Asp, NG_008807.2:g.552462=, NM_000110.3:c.2021G>A, XP_005270619.1:p.Gly602Asp, XP_006710460.1:p.Gly674Asp, NG_008807.2:g.552462G>A, XM_005270563.1:c.2021G>A, NC_000001.10:g.97839154C>T, XR_947619.1:n.1125-1930C>T, NC_000001.10:g.97839154= +PA166156204 rs138100349 PA128 CYP2D6 NC_000022.11:42130710 3 2 2 0 0 XM_005278354.3:c.-1472C>T, NG_008376.3:g.4282C>A, XM_011529967.1:c.82C>T, XR_952539.1:n.-1444G>A, NC_000022.10:g.42526712=, NG_008376.4:g.5101=, NP_000097.3:p.Arg28=, NC_000022.11:g.42130710=, NT_187682.1:g.53051G>A, NC_000022.10:g.42526712G>A, 138100349, NW_009646208.1:g.16276G>A, NG_008376.4:g.5101C>T, XM_011548819.1:c.-1472C>T, rs138100349, NW_004504305.1:g.53037G>A, XM_011529966.1:c.82C>T, XM_011529969.1:c.37+587C>T, XM_011547541.1:c.-1472C>T, XM_011529970.1:c.82C>T, XP_011528268.1:p.Arg28Cys, XP_005278410.1:p.Arg28Cys, XP_011528269.1:p.Arg28Cys, NM_001025161.2:c.82C>T, NM_000106.5:c.82C>T, XM_011547756.1:c.42+487G>A, XM_005278353.1:c.82C>T, NP_000097.3:p.Arg28Cys, XR_430455.2:n.328+22G>A, XM_011547751.1:c.-1132C>T, XP_011528270.1:p.Arg28Cys, XM_011529971.1:c.37+587C>T, XP_011528274.1:p.Arg28Cys, XP_011528272.1:p.Arg28Cys, XR_952745.1:n.1239C>T, XM_005278354.1:c.-1472C>T, XM_011529972.1:c.82C>T, XR_952536.1:n.-1733G>A, XR_952537.1:n.-1733G>A, NC_000022.11:g.42130710G>T, NP_000097.3:p.Arg28Ser, XR_952538.1:n.-1733G>A, XM_011529968.1:c.82C>T, XM_011547750.1:c.37+587C>T, NG_008376.3:g.4282C>T, NG_008376.3:g.4282=, NG_008376.4:g.5101C>A, NC_000022.11:g.42130710G>A, NC_000022.10:g.42526712G>T, NP_001020332.2:p.Arg28Cys +PA166242101 rs138105638 PA130 CYP3A4 NC_000007.14:99766440 1 1 1 0 0 NC_000007.13:g.99364063=, NP_059488.2:p.Arg268=, NP_059488.2:p.Arg268Ter, NC_000007.13:g.99364063G>A, NG_008421.1:g.22746C>T, NC_000007.14:g.99766440G>A, NC_000007.13:g.99364063G>T, 138105638, NG_008421.1:g.22746=, rs138105638, NC_000007.14:g.99766440=, NG_008421.1:g.22746C>A, NC_000007.14:g.99766440G>T +PA166208301 rs138112316 PA124 CYP2C19 NC_000010.11:94852766 1 0 0 0 0 NP_000760.1:p.Arg442His, NC_000010.11:g.94852766G>A, 138112316, NG_008384.3:g.95086=, NC_000010.10:g.96612523G>A, NG_008384.3:g.95086G>T, NG_008384.3:g.95086G>A, rs138112316, NC_000010.10:g.96612523=, NP_000760.1:p.Arg442Leu, NC_000010.11:g.94852766=, NC_000010.11:g.94852766G>T, NP_000760.1:p.Arg442=, NC_000010.10:g.96612523G>T +PA166183704 rs1381376 PA31945 OPRM1 NC_000006.12:154072123 7 1 0 0 0 17209536, NC_000006.11:g.154393258=, NG_021208.2:g.66623C>G, NC_000006.11:g.154393258C>T, NC_000006.12:g.154072123C>G, NG_021208.2:g.66623C>T, NC_000006.12:g.154072123C>A, NC_000006.11:g.154393258C>A, rs1381376, 1381376, NC_000006.11:g.154393258C>G, NC_000006.12:g.154072123=, 17181101, NC_000006.12:g.154072123C>T, NG_021208.2:g.66623=, NG_021208.2:g.66623C>A +PA166154211 rs138142612 PA124 CYP2C19 NC_000010.11:94842861 19 1 1 0 0 rs138142612, NG_008384.3:g.85181G>A, NM_000769.1:c.986G>A, NC_000010.10:g.96602618=, NC_000010.10:g.96602618G>A, NG_008384.2:g.85156G>A, NP_000760.1:p.Arg329=, NC_000010.11:g.94842861=, NC_000010.11:g.94842861G>A, NP_000760.1:p.Arg329His, NG_008384.3:g.85181=, NM_000769.2:c.986G>A, 138142612 +PA166156761 rs1382368 PA37423 XRCC4 NC_000005.10:83155256 1 1 0 0 0 NM_003401.4:c.316-40514C>T, XM_005248595.1:c.316-40514C>T, NC_000005.10:g.83155256=, NG_047086.1:g.82848=, NC_000005.10:g.83155256C>T, NM_022406.3:c.316-40514C>T, NC_000005.9:g.82451075=, NM_001318013.1:c.316-40514C>T, XM_011543627.1:c.316-40514C>T, NC_000005.9:g.82451075C>T, XM_011543626.1:c.316-40514C>T, NG_047086.1:g.82848C>T, NM_001318012.1:c.316-40514C>T, XM_011543628.1:c.316-40514C>T, NM_022550.3:c.316-40514C>T, 1382368, rs1382368 +PA166156042 rs138335 PA36167 ST13 NC_000022.11:40831082 1 1 0 0 0 56867976, NM_001278589.1:c.652-126G>C, rs56867976, NC_000022.10:g.41227086C>G, rs138335, NC_000022.10:g.41227086C>A, 138335, NC_000022.11:g.40831082=, NC_000022.10:g.41227086=, NC_000022.11:g.40831082C>A, NM_003932.4:c.682-126G>C, NC_000022.11:g.40831082C>G +PA166156043 rs138337 PA36167 ST13 NC_000022.11:40835049 1 1 0 0 0 NC_000022.11:g.40835049A>G, NM_003932.4:c.578+511T>C, 17346097, NC_000022.10:g.41231053=, 138337, NC_000022.11:g.40835049=, NM_001278589.1:c.548+511T>C, rs138337, NC_000022.10:g.41231053A>G, rs17346097 +PA166165346 rs138385713 PA134970144 VPS13D NC_000001.11:12374083 1 0 0 0 0 rs138385713, NC_000001.11:g.12374083G>A, NC_000001.11:g.12374083=, NG_056877.1:g.149045G>A, 138385713, NG_056877.1:g.149045=, NC_000001.10:g.12434138=, NC_000001.10:g.12434138G>A +PA166159783 rs138391898 PA145 DPYD NC_000001.11:97549565 1 0 0 1 0 NC_000001.11:g.97549565=, 138391898, NP_000101.2:p.Val507=, rs138391898, NC_000001.10:g.98015121C>T, NC_000001.11:g.97549565C>T, NG_008807.2:g.376495=, NC_000001.10:g.98015121=, NP_000101.2:p.Val507Ile, NG_008807.2:g.376495G>A +PA166156205 rs138417770 PA128 CYP2D6 NC_000022.11:42130718 1 1 0 0 0 XP_011528268.1:p.Arg25Gln, XP_011528269.1:p.Arg25Gln, rs138417770, XR_430455.2:n.328+30C>T, XR_952537.1:n.-1725C>T, XR_952538.1:n.-1725C>T, NC_000022.10:g.42526720C>T, NM_000106.5:c.74G>A, NC_000022.11:g.42130718=, XR_952536.1:n.-1725C>T, NG_055460.1:g.3C>T, NC_000022.11:g.42130718C>T, XM_011529971.1:c.37+579G>A, XM_011547541.1:c.-1480G>A, NP_001020332.2:p.Arg25Gln, NC_000022.10:g.42526720=, XM_005278354.1:c.-1480G>A, XM_011547751.1:c.-1140G>A, XM_011548819.1:c.-1480G>A, XR_952539.1:n.-1436C>T, NG_008376.3:g.4274G>A, XM_011529967.1:c.74G>A, 138417770, XM_011547756.1:c.42+495C>T, XM_005278353.1:c.74G>A, XM_011529969.1:c.37+579G>A, NM_001025161.2:c.74G>A, NT_187682.1:g.53059C>T, XM_011547750.1:c.37+579G>A, XP_011528272.1:p.Arg25Gln, NG_008376.4:g.5093=, XR_952745.1:n.1231G>A, XM_011529968.1:c.74G>A, XM_011529970.1:c.74G>A, NP_000097.3:p.Arg25=, XP_005278410.1:p.Arg25Gln, XP_011528274.1:p.Arg25Gln, NW_004504305.1:g.53045C>T, NW_009646208.1:g.16284C>T, XM_005278354.3:c.-1480G>A, XM_011529966.1:c.74G>A, XM_011529972.1:c.74G>A, XP_011528270.1:p.Arg25Gln, NG_008376.3:g.4274=, NG_008376.4:g.5093G>A, NP_000097.3:p.Arg25Gln, NG_055460.1:g.3= +PA166235849 rs1384401 PA36304 TACR3 NC_000004.12:103643921 1 1 0 0 0 rs1384401, 1384401, NC_000004.11:g.104565078G>A, NC_000004.11:g.104565078=, NG_023344.1:g.80896=, 58866962, NC_000004.12:g.103643921=, NG_023344.1:g.80896C>T, NC_000004.12:g.103643921G>A +PA166159790 rs138545885 PA145 DPYD NC_000001.11:97373629 1 0 0 1 0 NC_000001.11:g.97373629C>A, NC_000001.10:g.97839185=, NG_008807.2:g.552431=, NC_000001.11:g.97373629=, NG_008807.2:g.552431G>T, rs138545885, NP_000101.2:p.Ala664=, NC_000001.10:g.97839185C>A, 138545885, NP_000101.2:p.Ala664Ser +PA166178402 rs138602176 PA134877725 MAST3 NC_000019.10:18131325 1 1 0 0 0 NC_000019.10:g.18131325=, NC_000019.10:g.18131325G>A, rs138602176, NC_000019.9:g.18242135G>A, NC_000019.9:g.18242135=, 138602176 +PA166153922 rs138616379 PA145 DPYD NC_000001.11:97450189 1 0 0 1 0 XP_005270619.2:p.Arg520Gln, NG_008807.2:g.475871=, NC_000001.11:g.97450189C>T, XM_005270563.1:c.1775G>A, XP_005270620.1:p.Arg592Gln, NM_000110.3:c.1775G>A, XM_005270562.3:c.1559G>A, NG_008807.2:g.475871G>A, NP_000101.2:p.Arg592Gln, XP_005270619.1:p.Arg520Gln, XP_006710460.1:p.Arg592Gln, NC_000001.10:g.97915745C>T, NP_000101.2:p.Arg592=, XP_005270618.1:p.Arg555Gln, NC_000001.10:g.97915745=, 138616379, rs138616379, XM_005270561.1:c.1664G>A, NC_000001.11:g.97450189=, XM_006710397.2:c.1775G>A, XM_005270562.1:c.1559G>A +PA166232221 rs1386493 PA128747823 TPH2 NC_000012.12:71961399 2 1 0 0 0 NC_000012.12:g.71961399=, NC_000012.12:g.71961399A>T, NC_000012.11:g.72355179=, NC_000012.11:g.72355179A>T, NC_000012.12:g.71961399A>G, NG_008279.1:g.27554=, 1386493, NG_008279.1:g.27554A>T, NC_000012.11:g.72355179A>G, rs1386493, NG_008279.1:g.27554A>G, 57398159 +PA166154513 rs1386494 PA128747823 TPH2 NC_000012.12:71958763 1 0 0 0 0 NC_000012.11:g.72352543T>C, NG_008279.1:g.24918T>C, NG_008279.1:g.24918T>A, XR_245894.1:n.613-2790T>C, NC_000012.11:g.72352543T>A, NM_173353.3:c.608+9108T>C, XM_011537899.1:c.14+9108T>C, NC_000012.12:g.71958763=, rs1386494, 1386494, NC_000012.11:g.72352543=, 58409378, NG_008279.1:g.24918T>G, NG_008279.1:g.24918=, rs58409378, NC_000012.12:g.71958763T>G, XR_245894.2:n.709-2790T>C, XM_005268642.1:c.626+9108T>C, NC_000012.12:g.71958763T>A, NC_000012.11:g.72352543T>G, NC_000012.12:g.71958763T>C +PA166170594 rs138741635 PA28140 FHIT NC_000003.12:60942161 1 0 0 0 0 NC_000003.12:g.60942161T>A, NC_000003.11:g.60927833=, NC_000003.11:g.60927833T>A, NG_007551.2:g.314299A>C, NC_000003.12:g.60942161=, NG_007551.2:g.314299=, NG_007551.2:g.314299A>T, NC_000003.12:g.60942161T>G, 138741635, NC_000003.11:g.60927833T>G, rs138741635 +PA166186025 rs138776684 PA212 KCNH2 NC_000007.14:150957380 1 0 0 0 0 NG_008916.1:g.25547=, rs138776684, NG_008916.1:g.25547C>T, NP_000229.1:p.Pro347Ser, NC_000007.14:g.150957380=, NC_000007.14:g.150957380G>A, NC_000007.13:g.150654468=, NP_000229.1:p.Pro347=, NC_000007.13:g.150654468G>A, 138776684 +PA166157727 rs1387923 PA31818 NTRK2 NC_000009.12:85025721 3 1 0 0 0 NM_001018064.2:c.*4284A>G, XM_005252001.1:c.*4284A>G, XM_005252002.1:c.*4284A>G, XM_005252005.1:c.*4284A>G, NG_012201.2:g.362171=, XM_011518718.1:c.*4284A>G, rs60430250, XM_005252004.1:c.*4284A>G, XM_005252003.1:c.*4284A>G, rs1387923, NC_000009.11:g.87640636A>G, NG_012201.2:g.362171A>G, 17334006, NM_006180.4:c.*4284A>G, NC_000009.11:g.87640636=, rs17334006, XM_011518719.1:c.*4284A>G, NC_000009.12:g.85025721=, 60430250, 1387923, NC_000009.12:g.85025721A>G +PA166189123 rs138809906 PA32911 PAH NC_000012.12:102855321 2 2 0 0 0 NG_008690.2:g.108090=, rs138809906, NP_000268.1:p.Ile174=, NC_000012.11:g.103249099=, NC_000012.11:g.103249099A>T, NC_000012.12:g.102855321=, NC_000012.12:g.102855321A>T, NG_008690.2:g.108090T>A, NC_000012.12:g.102855321A>G, 138809906, NP_000268.1:p.Ile174Asn, NP_000268.1:p.Ile174Thr, NC_000012.11:g.103249099A>G, NG_008690.2:g.108090T>C +PA166160907 rs138924556 PA145 DPYD NC_000001.11:97679004 1 0 0 0 0 NC_000001.11:g.97679004G>A, rs138924556, NC_000001.10:g.98144560=, NG_008807.2:g.247056=, NG_008807.2:g.247056C>T, NC_000001.11:g.97679004=, NC_000001.10:g.98144560G>A, 138924556 +PA166207466 rs138957855 PA126 CYP2C9 NC_000010.11:94938696 1 0 0 0 0 rs138957855, NC_000010.11:g.94938696T>C, NG_008385.1:g.5039T>C, 138957855, NP_000762.2:p.Val5=, NG_008385.2:g.5539=, NC_000010.10:g.96698453=, NP_000762.2:p.Val5Ala, NG_055435.1:g.4227=, NG_055435.1:g.4227T>C, NC_000010.11:g.94938696=, NG_008385.1:g.5039=, NG_008385.2:g.5539T>C, NC_000010.10:g.96698453T>C +PA166262006 rs138978736 PA121 CYP2A6 NC_000019.10:40846991 1 0 0 0 0 NC_000019.10:g.40846991G>T, 138978736, NG_008377.1:g.8457C>A, NP_000753.3:p.Gln239=, rs138978736, NP_000753.3:p.Gln239Lys, NC_000019.9:g.41352896G>T, NC_000019.10:g.40846991=, NC_000019.9:g.41352896=, NG_008377.1:g.8457= +PA166156512 rs1390913 NC_000004.12:44919548 1 0 0 0 0 1390913, NC_000004.11:g.44921565=, 59712206, rs1390913, NC_000004.11:g.44921565G>A, NC_000004.12:g.44919548=, NC_000004.12:g.44919548G>A, rs59712206, XR_925279.1:n.117+4752C>T +PA166178080 rs139304906 PA109 CFTR NC_000007.14:117611671 3 0 0 0 1 NP_000483.3:p.Leu1077=, 139304906, NG_016465.4:g.150888T>C, NG_056128.1:g.4725=, NG_056128.1:g.4725T>C, NG_016465.4:g.150888=, rs139304906, NG_056128.2:g.4725T>C, NC_000007.13:g.117251725=, NP_000483.3:p.Leu1077Pro, NG_056128.2:g.4725=, NC_000007.14:g.117611671T>C, NC_000007.13:g.117251725T>C, L1077P, NC_000007.14:g.117611671= +PA166165360 rs139368788 NC_000013.11:51870328 1 0 0 0 0 rs139368788, NC_000013.11:g.51870328A>G, NC_000013.11:g.51870328=, 139368788, NC_000013.10:g.52444464=, NC_000013.10:g.52444464A>G +PA166159799 rs139459586 PA145 DPYD NC_000001.11:97079076 1 0 0 1 0 NC_000001.11:g.97079076=, NC_000001.11:g.97079076A>C, NG_008807.2:g.846984=, NP_000101.2:p.Leu993Arg, 139459586, NG_008807.2:g.846984T>G, rs139459586, NC_000001.10:g.97544632=, NC_000001.10:g.97544632A>C, NP_000101.2:p.Leu993= +PA166207624 rs139532088 PA126 CYP2C9 NC_000010.11:94981316 1 0 0 0 0 NP_000762.2:p.Ser365=, NC_000010.11:g.94981316=, NC_000010.11:g.94981316C>T, NG_008385.1:g.47659=, NC_000010.10:g.96741073C>A, NG_008385.2:g.48159C>T, NC_000010.10:g.96741073=, NC_000010.11:g.94981316C>A, NG_008385.1:g.47659C>A, NP_000762.2:p.Ser365Arg, rs139532088, 139532088, NG_008385.2:g.48159=, NG_008385.1:g.47659C>T, NC_000010.10:g.96741073C>T, NG_008385.2:g.48159C>A +PA166165354 rs139544515 NC_000013.11:81823326 1 0 0 0 0 NC_000013.10:g.82397461=, NC_000013.10:g.82397461A>G, 139544515, rs139544515, NC_000013.11:g.81823326A>G, NC_000013.11:g.81823326= +PA166178094 rs139573311 PA109 CFTR NC_000007.14:117559471 1 0 0 0 0 139573311, rs139573311, NC_000007.13:g.117199525T>C, NC_000007.14:g.117559471T>C, NG_016465.4:g.98688T>C, NG_016465.4:g.98688=, NP_000483.3:p.Leu467=, NC_000007.14:g.117559471=, NC_000007.13:g.117199525=, NP_000483.3:p.Leu467Pro +PA166207762 rs139656048 PA126 CYP2C9 NC_000010.11:94941952 1 0 0 0 0 NG_008385.1:g.8295=, NC_000010.10:g.96701709T>C, NC_000010.11:g.94941952=, rs139656048, NG_008385.2:g.8795T>C, NP_000762.2:p.Ile88=, 139656048, NC_000010.11:g.94941952T>C, NP_000762.2:p.Ile88Thr, NG_008385.1:g.8295T>C, NG_008385.2:g.8795=, NC_000010.10:g.96701709= +PA166160196 rs1396862 PA26874 CRHR1 NC_000017.11:45825631 1 0 0 0 0 1396862, rs1396862, NC_000017.11:g.45825631G>A, 386530494, NC_000017.11:g.45825631=, NG_009902.1:g.46370G>A, 17763032, NG_009902.1:g.46370=, NC_000017.10:g.43902997=, NC_000017.10:g.43902997G>A, 111320260 +PA166159771 rs139834141 PA145 DPYD NC_000001.11:97699533 1 0 0 1 0 NP_000101.2:p.Met166=, 139834141, NP_000101.2:p.Met166Ile, NC_000001.10:g.98165089=, NC_000001.11:g.97699533C>T, NC_000001.11:g.97699533=, NG_008807.2:g.226527G>A, NG_008807.2:g.226527=, NC_000001.10:g.98165089C>T, rs139834141 +PA166156044 rs139887 PA33513,PA36027 POLR2F,SOX10 NC_000022.11:37975389 2 1 0 0 0 XM_005261720.1:c.698-1191C>G, 139887, NG_007948.1:g.14144C>T, NC_000022.11:g.37975389G>A, 57328544, NC_000022.11:g.37975389G>C, NG_007948.1:g.14144C>G, NC_000022.10:g.38371396G>C, NC_000022.10:g.38371396G>A, NM_001301130.1:c.293+8219G>C, NG_007948.1:g.14144C>A, XR_938243.1:n.158+3079G>C, rs57328544, NC_000022.10:g.38371396=, NG_007948.1:g.14144=, rs139887, NM_001301131.1:c.293+8219G>C, NC_000022.11:g.37975389G>T, NC_000022.10:g.38371396G>T, NM_006941.3:c.698-1191C>G, NC_000022.11:g.37975389= +PA166250001 rs139945292 NC_000011.10:131320708 2 2 0 0 0 rs139945292, NC_000011.9:g.131190603C>T, NC_000011.10:g.131320708C>A, NC_000011.9:g.131190603C>A, NC_000011.10:g.131320708=, 139945292, NC_000011.10:g.131320708C>T, NC_000011.10:g.131320708C>G, NC_000011.9:g.131190603C>G, NC_000011.9:g.131190603= +PA166268381 rs139961185 PA165543631 SIK3 NC_000011.10:116936627 1 0 0 0 0 rs139961185, NC_000011.9:g.116807343=, NC_000011.10:g.116936627=, NC_000011.9:g.116807343G>A, NC_000011.10:g.116936627G>A, 139961185 +PA166319421 rs140039091 PA145 DPYD NC_000001.11:97515821 1 1 0 0 0 NC_000001.10:g.97981377=, NC_000001.11:g.97515821=, NC_000001.11:g.97515821C>G, NP_000101.2:p.Ala549=, NP_000101.2:p.Ala549Pro, rs140039091, NC_000001.10:g.97981377C>G, NG_008807.2:g.410239G>C, 140039091, NG_008807.2:g.410239= +PA166159801 rs140114515 PA145 DPYD NC_000001.11:97079005 1 0 0 1 0 NP_000101.2:p.Val1017Ile, NC_000001.11:g.97079005C>T, NG_008807.2:g.847055G>A, NG_008807.2:g.847055=, NC_000001.10:g.97544561=, NP_000101.2:p.Val1017=, NC_000001.11:g.97079005=, 140114515, NC_000001.10:g.97544561C>T, rs140114515 +PA166246063 rs140197497 PA24363 AADAC NC_000003.12:151828070 1 0 0 0 0 NC_000003.11:g.151545858C>T, NP_001077.2:p.Asn366Lys, NC_000003.12:g.151828070C>G, NC_000003.12:g.151828070C>T, NC_000003.11:g.151545858=, 140197497, rs140197497, NC_000003.12:g.151828070=, NC_000003.11:g.151545858C>G, NP_001077.2:p.Asn366= +PA166210004 rs1402398 NC_000002.12:57815106 1 1 0 0 0 57721270, NC_000002.12:g.57815106G>A, 1402398, NC_000002.11:g.58042241G>A, rs1402398, NC_000002.12:g.57815106=, NC_000002.11:g.58042241= +PA166155635 rs1402467 PA162405070 SULT1C4 NC_000002.12:108378352 1 1 0 0 0 rs61392346, NM_006588.2:c.15C>G, rs1402467, NC_000002.11:g.108994808C>G, 52816974, NC_000002.12:g.108378352=, NP_006579.2:p.Asp5=, XM_005263919.2:c.15C>G, XM_005263919.1:c.15C>G, NP_006579.2:p.Asp5Glu, rs52816974, XP_005263976.1:p.Asp5Glu, 61392346, 1402467, NC_000002.12:g.108378352C>G, NC_000002.11:g.108994808= +PA166154212 rs140278421 PA124 CYP2C19 NC_000010.11:94780574 5 1 1 0 0 NG_008384.2:g.22869G>T, rs140278421, NM_000769.2:c.557G>T, NC_000010.10:g.96540331=, NC_000010.10:g.96540331G>T, NC_000010.11:g.94780574=, NM_000769.2:c.557G>A, NM_000769.2:c.557G>C, NG_008384.3:g.22894G>T, NC_000010.11:g.94780574G>A, 140278421, NC_000010.11:g.94780574G>C, NG_008384.3:g.22894=, NP_000760.1:p.Arg186=, NP_000760.1:p.Arg186Pro, NG_008384.3:g.22894G>C, NG_008384.2:g.22869G>A, NG_008384.3:g.22894G>A, NC_000010.11:g.94780574G>T, NM_000769.1:c.557G>T, NP_000760.1:p.Arg186Leu, NG_008384.2:g.22869G>C, NM_000769.1:c.557G>A, NP_000760.1:p.Arg186His, NC_000010.10:g.96540331G>C, NM_000769.1:c.557G>C, NC_000010.10:g.96540331G>A +PA166268446 rs140410716 PA27597 ECHS1 NC_000010.11:133368948 1 1 0 0 0 140410716, NC_000010.10:g.135182452C>T, NC_000010.11:g.133368948=, NG_042077.1:g.9457=, NC_000010.11:g.133368948C>T, rs140410716, NG_042077.1:g.9457G>A, NP_004083.3:p.Pro163=, NC_000010.10:g.135182452= +PA166155551 rs140471703 PA121 CYP2A6 NC_000019.10:40846912 2 1 0 0 0 NC_000019.9:g.41352817C>G, 140471703, NC_000019.10:g.40846912=, NC_000019.10:g.40846912C>T, NC_000019.9:g.41352817=, NM_000762.5:c.794G>A, rs140471703, XM_005258568.1:c.641G>A, NP_000753.3:p.Arg265Gln, NG_008377.1:g.8536G>A, XP_005258625.1:p.Arg214Gln, NG_008377.1:g.8536G>C, NG_008377.1:g.8536=, NP_000753.3:p.Arg265=, NC_000019.9:g.41352817C>T, NP_000753.3:p.Arg265Pro, NC_000019.10:g.40846912C>G +PA166156045 rs140504 PA25321 BCR NC_000022.11:23285182 2 0 0 0 0 NG_009244.2:g.109818A>T, NP_004318.3:p.Asn796Ser, NG_009244.2:g.109818=, NG_009244.1:g.109818A>T, NP_004318.3:p.Asn796Ile, rs56986372, 1126848, NC_000022.11:g.23285182A>T, NG_009244.2:g.109818A>G, NC_000022.10:g.23627369=, NG_009244.1:g.109818A>G, XR_244382.1:n.3133A>G, NP_067585.2:p.Asn796Ser, NC_000022.11:g.23285182A>G, rs1126848, NP_004318.3:p.Asn796=, NC_000022.10:g.23627369A>T, NC_000022.10:g.23627369A>G, rs140504, NG_009244.1:g.109818=, NM_004327.3:c.2387A>G, rs2227941, 2227941, NM_021574.2:c.2387A>G, 56986372, 140504, NC_000022.11:g.23285182= +PA166232901 rs140530655 PA159 F5 NC_000001.11:169544331 1 0 0 0 0 NG_011806.1:g.47201G>A, NC_000001.11:g.169544331C>T, 140530655, NG_011806.1:g.47201=, NC_000001.10:g.169513569=, NC_000001.11:g.169544331=, rs140530655, NC_000001.10:g.169513569C>T, NP_000121.2:p.Arg647His, NP_000121.2:p.Arg647= +PA166159777 rs140602333 PA145 DPYD NC_000001.11:97573919 1 0 0 1 0 NG_008807.2:g.352141=, NC_000001.10:g.98039475=, NC_000001.11:g.97573919G>T, NC_000001.11:g.97573919G>A, NC_000001.10:g.98039475G>A, NG_008807.2:g.352141C>T, 140602333, NP_000101.2:p.Arg394Trp, NP_000101.2:p.Arg394=, NC_000001.11:g.97573919=, NG_008807.2:g.352141C>A, NC_000001.10:g.98039475G>T, rs140602333 +PA166155161 rs140700 PA312 SLC6A4 NC_000017.11:30216371 1 0 0 0 0 NG_011747.2:g.24566=, XM_005258025.1:c.964-155G>A, NC_000017.10:g.28543389=, NG_011747.2:g.24566G>T, NC_000017.10:g.28543389C>A, rs140700, NC_000017.11:g.30216371C>G, NC_000017.11:g.30216371=, 59205571, NC_000017.11:g.30216371C>A, NM_001045.5:c.838-155G>A, 386530829, NG_011747.2:g.24566G>C, NC_000017.10:g.28543389C>T, NG_011747.2:g.24566G>A, NC_000017.10:g.28543389C>G, 140700, NC_000017.11:g.30216371C>T, rs386530829, rs59205571 +PA166394861 rs140883683 PA109 CFTR NC_000007.14:117611599 0 0 0 0 1 NP_000483.3:p.Thr1053=, NG_016465.4:g.150816=, NC_000007.13:g.117251653C>G, NC_000007.13:g.117251653C>T, NG_056128.2:g.4653C>T, NC_000007.14:g.117611599C>G, NG_016465.4:g.150816C>G, NC_000007.13:g.117251653=, NP_000483.3:p.Thr1053Ser, NP_000483.3:p.Thr1053Ile, 140883683, NC_000007.14:g.117611599C>T, rs140883683, NC_000007.14:g.117611599=, NG_056128.2:g.4653C>G, NG_056128.2:g.4653=, NG_016465.4:g.150816C>T +PA166153968 rs1409314 PA27699 EIF3A NC_000010.11:118856240 1 1 0 0 0 rs59117276, 56620836, rs1409314, 1409314, NC_000010.11:g.118856240=, NC_000010.10:g.120615752A>G, XR_946355.1:n.122+9947T>C, NC_000010.11:g.118856240A>T, NC_000010.10:g.120615752=, NC_000010.10:g.120615752A>C, rs56620836, NC_000010.11:g.118856240A>G, 59117276, NC_000010.11:g.118856240A>C, NC_000010.10:g.120615752A>T +PA166319662 rs140989814 PA145 DPYD NC_000001.11:97079073 1 1 0 0 0 NC_000001.11:g.97079073=, rs140989814, NC_000001.10:g.97544629=, NG_008807.2:g.846987=, 140989814, NC_000001.10:g.97544629C>G, NP_000101.2:p.Ser994=, NC_000001.11:g.97079073C>G, NG_008807.2:g.846987G>C, NP_000101.2:p.Ser994Thr +PA166154213 rs141011391 PA126 CYP2C9 NC_000010.11:94988976 2 0 0 0 0 NC_000010.11:g.94988976A>G, rs141011391, NP_000762.2:p.Asn474=, NC_000010.10:g.96748733A>G, XM_005269575.1:c.1275-490A>G, NC_000010.11:g.94988976=, NC_000010.10:g.96748733=, 141011391, NG_008385.1:g.55319A>G, NM_000771.3:c.1421A>G, NP_000762.2:p.Asn474Ser, NG_008385.2:g.55819=, NG_008385.1:g.55319=, NG_008385.2:g.55819A>G +PA166164950 rs141033578 PA109 CFTR NC_000007.14:117606695 1 1 0 1 4 NC_000007.14:g.117606695C>T, NC_000007.13:g.117246749=, 141033578, NC_000007.13:g.117246749C>T, NP_000483.3:p.Ser977=, NP_000483.3:p.Ser977Phe, NC_000007.14:g.117606695C>G, NG_016465.4:g.145912C>G, NC_000007.13:g.117246749C>G, NC_000007.14:g.117606695=, NG_016465.4:g.145912=, NP_000483.3:p.Ser977Cys, NG_016465.4:g.145912C>T, rs141033578 +PA166153923 rs141044036 PA145 DPYD NC_000001.11:97082365 2 0 0 1 0 XP_005270619.1:p.Lys886Glu, NC_000001.10:g.97547921T>C, XM_005270562.3:c.2656A>G, rs141044036, NM_000110.3:c.2872A>G, NC_000001.11:g.97082365=, NP_000101.2:p.Lys958=, NG_008807.2:g.843695A>G, 141044036, NC_000001.11:g.97082365T>C, NP_000101.2:p.Lys958Glu, NC_000001.10:g.97547921=, XP_005270618.1:p.Lys921Glu, NG_008807.2:g.843695=, XM_005270562.1:c.2656A>G, XM_005270561.1:c.2761A>G, XP_005270619.2:p.Lys886Glu +PA166157691 rs141059755 PA165585763 LINC00251 NC_000008.11:65195370 1 1 0 0 0 NC_000008.11:g.65195370=, NC_000008.10:g.66107605A>G, NC_000008.11:g.65195370A>C, 141059755, NC_000008.11:g.65195370A>G, rs141059755, NC_000008.10:g.66107605A>C, NC_000008.10:g.66107605= +PA166178541 rs141084494 PA34299 RBX1 NC_000022.11:40972293 1 1 0 0 0 NC_000022.10:g.41368297G>A, rs141084494, NC_000022.11:g.40972293G>A, 141084494, NC_000022.10:g.41368297=, NC_000022.11:g.40972293= +PA166153629 rs1410996 PA29261 CFH NC_000001.11:196727803 2 0 0 0 0 NC_000001.10:g.196696933G>C, NM_000186.3:c.2237-543G=, NC_000001.10:g.196696933G>A, NG_007259.1:g.80793G>A, 1410996, rs1410996, NG_007259.1:g.80793G>C, NG_007259.1:g.80793=, NM_000186.3:c.2237-543G>A, 58851244, NC_000001.11:g.196727803G>C, NC_000001.11:g.196727803G=, NC_000001.10:g.196696933G=, rs386530952, NC_000001.11:g.196727803G>A, NC_000001.10:g.196696933=, NG_007259.1:g.80793G=, rs58851244, 3766406, rs3766406, NC_000001.11:g.196727803=, 386530952 +PA166154698 rs1412125 PA188 HMGB1 NC_000013.11:30467458 1 0 0 0 0 XM_011535056.1:c.-1677G>A, XM_005266364.1:c.-14-3764G>A, NC_000013.10:g.31041595C>G, 56766653, NC_000013.11:g.30467458C>G, NM_002128.5:c.-1677G>A, 1412125, NC_000013.10:g.31041595=, rs56766653, NC_000013.11:g.30467458C>T, NM_001313893.1:c.-14-3764G>A, XR_941568.1:n.-1521G>A, NC_000013.11:g.30467458=, rs1412125, XM_005266367.1:c.-14-3764G>A, XM_005266368.1:c.-1677G>A, NC_000013.10:g.31041595C>T +PA166165344 rs141213385 PA143485429 CCDC77 NC_000012.12:428447 1 0 0 0 0 rs141213385, NC_000012.12:g.428447=, NC_000012.11:g.537613G>T, NC_000012.12:g.428447G>T, NC_000012.12:g.428447G>C, NC_000012.11:g.537613=, 141213385, NC_000012.11:g.537613G>C +PA166267706 rs141257984 NC_000004.12:69018140 1 0 0 0 0 141257984, NC_000004.12:g.69018140=, NC_000004.12:g.69018140T>A, NC_000004.11:g.69883858T>G, NC_000004.11:g.69883858=, NC_000004.12:g.69018140T>G, NC_000004.11:g.69883858T>A, rs141257984, NC_000004.12:g.69018140T>C, NC_000004.11:g.69883858T>C +PA166314541 rs141294036 NC_000012.12:21795389 1 0 0 0 0 141294036, NC_000012.11:g.21948323C>T, NG_012819.1:g.146306G>A, rs141294036, NG_012819.1:g.146306=, NC_000012.12:g.21795389=, NC_000012.12:g.21795389C>T, NC_000012.11:g.21948323= +PA166157862 rs1414334 PA194 HTR2C NC_000023.11:114903581 10 3 0 0 0 NM_001256761.2:c.456-3008C>G, NM_001256760.2:c.551-3008C>G, NW_004070891.1:g.572383C>G, 59611151, NC_000023.11:g.114903581C>G, NC_000023.10:g.114138144C>G, NM_000868.3:c.551-3008C>G, NG_012082.2:g.324497=, NC_000023.10:g.114138144=, rs1414334, NG_012082.2:g.324497C>G, 1414334, rs59611151, NC_000023.11:g.114903581= +PA166319922 rs141439344 PA145 DPYD NC_000001.11:97549637 1 0 0 0 0 NP_000101.2:p.Val483=, rs141439344, NC_000001.10:g.98015193=, NC_000001.11:g.97549637=, NG_008807.2:g.376423=, NG_008807.2:g.376423G>A, NC_000001.11:g.97549637C>T, NP_000101.2:p.Val483Ile, 141439344, NC_000001.10:g.98015193C>T +PA166159769 rs141462178 PA145 DPYD NC_000001.11:97721650 1 0 0 1 0 NC_000001.11:g.97721650T>C, 141462178, NC_000001.10:g.98187206=, rs141462178, NP_000101.2:p.Met115Val, NC_000001.10:g.98187206T>C, NG_008807.2:g.204410A>G, NG_008807.2:g.204410=, NP_000101.2:p.Met115=, NC_000001.11:g.97721650= +PA166207502 rs141489852 PA126 CYP2C9 NC_000010.11:94942291 1 0 0 0 0 NC_000010.11:g.94942291=, rs141489852, NP_000762.2:p.Arg144=, NC_000010.11:g.94942291G>A, NG_008385.1:g.8634=, NG_008385.1:g.8634G>A, NC_000010.10:g.96702048=, NC_000010.10:g.96702048G>A, NP_000762.2:p.Arg144His, NG_008385.2:g.9134=, 141489852, NG_008385.2:g.9134G>A +PA166165334 rs141531882 PA134896466 TENM4 NC_000011.10:79209380 1 0 0 0 0 NG_051803.1:g.236272G>A, 141531882, NG_051803.1:g.236272G>T, NC_000011.10:g.79209380C>T, NG_051803.1:g.236272=, NC_000011.10:g.79209380C>A, NC_000011.9:g.78920425C>A, NC_000011.10:g.79209380=, NC_000011.9:g.78920425=, NC_000011.9:g.78920425C>T, rs141531882 +PA166156984 rs1415744 PA27832 EPM2A NC_000006.12:145701395 1 1 0 0 0 XM_011536113.1:c.302-15099A>G, 1415744, NG_012832.2:g.39461A>C, NG_012832.2:g.39461=, 56685907, NC_000006.12:g.145701395=, XM_005267139.1:c.302-15099A>G, XM_011536114.1:c.302-15099A>G, NG_012832.1:g.39461A>T, NG_012832.2:g.39461A>G, rs1415744, XM_006715564.2:c.302-15099A>G, NM_001018041.1:c.302-15099A>G, NG_012832.2:g.39461A>T, NM_005670.3:c.302-15099A>G, NG_012832.1:g.39461=, XM_011536115.1:c.302-15099A>G, NG_012832.1:g.39461A>G, NC_000006.12:g.145701395T>A, NC_000006.11:g.146022531T>A, NC_000006.11:g.146022531T>C, NC_000006.12:g.145701395T>C, NC_000006.12:g.145701395T>G, NG_012832.1:g.39461A>C, rs56685907, NC_000006.11:g.146022531=, NC_000006.11:g.146022531T>G +PA166155916 rs1415774 PA33800 PROCR NC_000020.11:35177813 1 0 0 0 0 XM_005260251.1:c.601+1367A>G, rs17321460, NC_000020.10:g.33765616A>G, 58892463, XM_011528496.1:c.601+1367A>G, NC_000020.10:g.33765616=, NG_032899.2:g.10843=, NG_032899.1:g.10843A>G, 17321460, NC_000020.11:g.35177813=, NM_006404.4:c.*1000A>G, rs58892463, rs60278957, rs1415774, 1415774, 60278957, NC_000020.11:g.35177813A>G, NG_032899.2:g.10843A>G +PA166155344 rs14158 PA227 LDLR NC_000019.10:11131368 2 1 0 0 0 NM_001195800.1:c.*52G>A, 56446007, rs17242656, NC_000019.9:g.11242044=, NM_001195799.1:c.*52G>A, XM_011528011.1:c.*52G>A, NC_000019.10:g.11131368=, NG_009060.1:g.46988=, 14158, 17242656, NC_000019.10:g.11131368G>C, rs59130683, rs17698773, NM_000527.4:c.*52G>A, XM_005259909.1:c.*52G>A, NC_000019.9:g.11242044G>C, 59130683, NC_000019.10:g.11131368G>A, rs1061748, rs13306506, 1061748, NC_000019.9:g.11242044G>A, rs3170295, 3170295, rs3826809, rs56446007, 17698773, XM_011528010.1:c.*52G>A, 13306506, NM_001195798.1:c.*52G>A, NG_009060.1:g.46988G>C, NM_001195803.1:c.*52G>A, NG_009060.1:g.46988G>A, rs14158, 3826809 +PA166180959 rs141678782 PA34896 RYR1 NC_000019.10:38475361 1 0 0 0 0 NG_008866.1:g.46662C>T, NC_000019.9:g.38966001=, NP_000531.2:p.Pro1402Ser, rs141678782, NC_000019.10:g.38475361=, 141678782, NP_000531.2:p.Pro1402Ala, NC_000019.10:g.38475361C>G, NC_000019.9:g.38966001C>T, NP_000531.2:p.Pro1402=, NG_008866.1:g.46662=, NG_008866.1:g.46662C>G, NC_000019.10:g.38475361C>T, NC_000019.9:g.38966001C>G +PA166208282 rs141690375 PA124 CYP2C19 NC_000010.11:94852790 1 0 0 0 0 NP_000760.1:p.Thr450Asn, NG_008384.3:g.95110=, NP_000760.1:p.Thr450=, NG_008384.3:g.95110C>A, NC_000010.10:g.96612547C>T, rs141690375, NP_000760.1:p.Thr450Ile, NC_000010.11:g.94852790C>A, NC_000010.11:g.94852790C>T, NC_000010.10:g.96612547=, NG_008384.3:g.95110C>T, 141690375, NC_000010.11:g.94852790=, NC_000010.10:g.96612547C>A +PA166319821 rs141726921 PA145 DPYD NC_000001.11:97679173 1 0 0 0 0 NP_000101.2:p.Gly258=, NC_000001.11:g.97679173C>T, NC_000001.10:g.98144729=, NG_008807.2:g.246887=, NC_000001.11:g.97679173=, NG_008807.2:g.246887G>A, 141726921, NC_000001.10:g.98144729C>T, NP_000101.2:p.Gly258Ser, rs141726921 +PA166208027 rs141774245 PA124 CYP2C19 NC_000010.11:94775432 1 0 0 0 0 NP_000760.1:p.Arg125=, NG_008384.3:g.17752=, 141774245, NC_000010.11:g.94775432G>A, NC_000010.11:g.94775432G>C, NG_008384.3:g.17752G>C, NC_000010.10:g.96535189=, NG_008384.3:g.17752G>A, NC_000010.11:g.94775432=, NC_000010.10:g.96535189G>A, NP_000760.1:p.Arg125His, NC_000010.10:g.96535189G>C, rs141774245, NP_000760.1:p.Arg125Pro +PA166153630 rs1417938 PA120 CRP NC_000001.11:159714396 1 1 0 0 0 XM_005244904.1:c.61+29A>T, XM_011509207.1:c.61+29A>T, rs17860483, 57494723, NC_000001.10:g.159684186=, 1417938, 17860483, rs1417938, NC_000001.10:g.159684186T>A, NC_000001.11:g.159714396T>A, NC_000001.11:g.159714396=, NG_013007.1:g.5194A>T, rs57494723, NC_000001.10:g.159684186T>C, NG_013007.1:g.5194=, NC_000001.11:g.159714396T>C, NG_013007.1:g.5194A>G, NM_000567.2:c.61+29A>T +PA166182395 rs1418553 PA36482 TGFB2 NC_000001.11:218436912 1 0 0 0 0 NC_000001.11:g.218436912C>T, 56575077, NC_000001.10:g.218610254C>T, rs1418553, 60793328, NC_000001.11:g.218436912=, NG_027721.2:g.96579=, 1418553, 59100176, NC_000001.10:g.218610254=, NG_027721.2:g.96579C>T +PA166157294 rs1419555 NC_000007.14:125929387 1 1 0 0 0 NC_000007.14:g.125929387C>T, 10353417, rs10353417, NC_000007.13:g.125569441C>A, rs16871550, 1419555, rs1419555, NC_000007.14:g.125929387=, 16871550, NC_000007.14:g.125929387C>A, rs61551269, NC_000007.13:g.125569441=, 61551269, NC_000007.13:g.125569441C>T +PA166155013 rs1421085 PA152208656 FTO NC_000016.10:53767042 2 0 0 0 0 XM_011523315.1:c.46-43098T>C, NC_000016.9:g.53800954=, NM_001080432.2:c.46-43098T>C, rs17817021, rs1421085, 1421085, NC_000016.10:g.53767042T>C, NG_012969.1:g.68080T>C, NC_000016.9:g.53800954T>C, XM_011523313.1:c.46-43098T>C, NG_012969.1:g.68080=, XM_011523314.1:c.46-43098T>C, XM_011523316.1:c.46-43098T>C, 17817021, NC_000016.10:g.53767042= +PA166154699 rs1421292 NC_000013.11:105545886 1 0 0 0 0 17717391, NC_000013.10:g.106198235T>A, NC_000013.10:g.106198235=, NC_000013.11:g.105545886=, rs17717391, rs1421292, 1421292, NC_000013.11:g.105545886T>A +PA166153924 rs142155704 PA143485536 MIA3 NC_000001.11:222617218 1 0 0 0 0 NC_000001.10:g.222790560A>G, NM_198551.3:c.-893A>G, XM_005273121.3:c.-893A>G, XM_011509513.1:c.-893A>G, NC_000001.11:g.222617218=, XM_006711304.2:c.-893A>G, 142155704, XM_005273121.1:c.-893A>G, rs142155704, NC_000001.11:g.222617218A>G, NC_000001.10:g.222790560= +PA166303181 rs14221 PA28818 GOT2 NC_000016.10:58723764 1 0 0 0 0 rs14221, 14221, 118076740, NP_002071.2:p.Val76=, 3198769, 1135818, NC_000016.10:g.58723764=, 56699697, NC_000016.9:g.58757668A>C, 2070191, NC_000016.10:g.58723764A>C, 11558170, 257635, NC_000016.9:g.58757668A>G, NC_000016.10:g.58723764A>G, NC_000016.9:g.58757668= +PA166277184 rs142211148 PA397 ABCC4 NC_000013.11:95178045 1 0 0 0 0 NP_005836.2:p.Arg531Gln, NC_000013.11:g.95178045=, NC_000013.11:g.95178045C>T, NG_050651.2:g.128402=, NC_000013.10:g.95830299=, NG_050651.1:g.128402G>A, NC_000013.10:g.95830299C>T, 142211148, NP_005836.2:p.Arg531=, NG_050651.2:g.128402G>A, rs142211148, NG_050651.1:g.128402= +PA166154214 rs142240658 PA126 CYP2C9 NC_000010.11:94938771 1 0 0 0 0 NP_000762.2:p.Pro30Leu, 142240658, NG_008385.2:g.5614=, NC_000010.11:g.94938771C>T, NG_055435.1:g.4302C>T, XM_005269575.1:c.89C>T, NG_008385.1:g.5114C>T, rs142240658, NC_000010.10:g.96698528C>T, NC_000010.11:g.94938771=, NG_008385.1:g.5114=, XP_005269632.1:p.Pro30Leu, NG_055435.1:g.4302=, NP_000762.2:p.Pro30=, NG_008385.2:g.5614C>T, NM_000771.3:c.89C>T, NC_000010.10:g.96698528= +PA166178410 rs142244113 PA202 INSR NC_000019.10:7164496 1 1 0 0 0 NC_000019.9:g.7164507C>T, rs142244113, 142244113, NG_008852.2:g.134505=, NG_008852.2:g.134505G>A, NC_000019.9:g.7164507=, NC_000019.10:g.7164496C>T, NC_000019.10:g.7164496= +PA166156762 rs1423515 NC_000005.10:82766725 1 1 0 0 0 1423515, NC_000005.10:g.82766725G>A, rs1423515, NC_000005.10:g.82766725=, 57137423, NC_000005.9:g.82062544G>A, NC_000005.9:g.82062544=, rs57137423 +PA166179945 rs1423691 NC_000005.10:63955835 1 0 0 0 0 NC_000005.9:g.63251662=, NC_000005.10:g.63955835T>C, NC_000005.10:g.63955835=, 56701484, NC_000005.9:g.63251662T>C, rs1423691, 1423691 +PA166153944 rs14240 PA134916380,PA325 PDZD8,SLC18A2 NC_000010.11:117277560 1 0 0 0 0 NC_000010.10:g.119037071T>C, 14240, NC_000010.10:g.119037071T>A, rs14240, NM_003054.4:c.*294T>C, NC_000010.11:g.117277560T>G, NC_000010.10:g.119037071=, 60529903, NC_000010.11:g.117277560T>C, NC_000010.10:g.119037071T>G, rs363234, rs3758625, 3758625, rs60529903, NC_000010.11:g.117277560T>A, XR_246069.1:n.1581-7117A>G, 386491448, NC_000010.11:g.117277560=, 363234, rs3168025, rs386491448, 3168025 +PA166163676 rs142410335 PA164722479 MIR133B NC_000006.12:52148898 1 0 0 0 0 142410335, NC_000006.12:g.52148898del, 142671623, rs142410335, NC_000006.12:g.52148898=, NC_000006.11:g.52013696=, NC_000006.11:g.52013696del +PA166170268 rs142427338 PA24695 ALDH1B1 NC_000009.12:38396880 1 0 0 0 0 NC_000009.12:g.38396880=, NG_012253.1:g.9176=, NG_012253.1:g.9176C>T, NP_000683.3:p.Gln378=, rs142427338, NC_000009.11:g.38396877=, NP_000683.3:p.Gln378Ter, 142427338, NC_000009.11:g.38396877C>T, NC_000009.12:g.38396880C>T +PA166155552 rs142474192 PA34896 RYR1 NC_000019.10:38443790 1 0 0 0 0 NM_000540.2:c.418G>A, XM_011527205.1:c.418G>T, NP_001036188.1:p.Ala140Ser, NP_000531.2:p.Ala140=, XP_006723380.1:p.Ala140Ser, NC_000019.10:g.38443790G>T, XP_011525507.1:p.Ala140Ser, NC_000019.9:g.38934430G>A, XP_006723382.1:p.Ala140Ser, XP_011525507.1:p.Ala140Thr, NP_000531.2:p.Ala140Ser, NG_008866.1:g.15091=, NC_000019.10:g.38443790G>A, rs142474192, NC_000019.9:g.38934430G>T, NC_000019.9:g.38934430=, NG_008866.1:g.15091G>A, NM_001042723.1:c.418G>A, XM_011527204.1:c.418G>A, XP_006723382.1:p.Ala140Thr, 142474192, XM_006723319.1:c.418G>A, NM_001042723.1:c.418G>T, NP_001036188.1:p.Ala140Thr, XM_006723317.1:c.418G>T, XM_011527205.1:c.418G>A, XP_006723380.1:p.Ala140Thr, NC_000019.10:g.38443790=, NM_000540.2:c.418G>T, XP_011525506.1:p.Ala140Thr, XM_011527204.1:c.418G>T, XP_011525506.1:p.Ala140Ser, NG_008866.1:g.15091G>T, NP_000531.2:p.Ala140Thr, XM_006723319.1:c.418G>T, XM_006723317.1:c.418G>A +PA166159779 rs142512579 PA145 DPYD NC_000001.11:97573805 1 0 0 1 0 NC_000001.11:g.97573805C>T, rs142512579, NP_000101.2:p.Asp432Asn, NG_008807.2:g.352255=, NP_000101.2:p.Asp432=, NC_000001.11:g.97573805=, NC_000001.10:g.98039361=, NC_000001.10:g.98039361C>T, 142512579, NG_008807.2:g.352255G>A +PA166307581 rs1425415650 PA390 ABCG2 NC_000004.12:88095599 1 0 0 0 0 NP_004818.2:p.Gly553=, NC_000004.12:g.88095599C>T, NG_032067.2:g.140724=, NC_000004.11:g.89016751C>T, NG_032067.2:g.140724G>A, rs1425415650, NC_000004.12:g.88095599=, NP_004818.2:p.Gly553Asp, 1425415650, NC_000004.11:g.89016751= +PA166159786 rs142619737 PA145 DPYD NC_000001.11:97515851 1 0 0 1 0 NG_008807.2:g.410209=, NG_008807.2:g.410209G>C, 199469540, NG_008807.2:g.410209G>A, NP_000101.2:p.Gly539=, NC_000001.11:g.97515851=, 142619737, NC_000001.11:g.97515851C>G, NC_000001.10:g.97981407C>G, NC_000001.10:g.97981407=, NC_000001.11:g.97515851C>T, NP_000101.2:p.Gly539Arg, NC_000001.10:g.97981407C>T, rs142619737 +PA166252585 rs142693902 PA35845 SLCO2B1 NC_000011.10:75165833 1 0 0 0 0 NC_000011.10:g.75165833G>A, NC_000011.9:g.74876878G>A, NG_027921.1:g.19847G>A, NC_000011.9:g.74876878G>T, NP_009187.1:p.Arg111Gln, NC_000011.9:g.74876878=, 142693902, NC_000011.10:g.75165833=, NG_027921.1:g.19847G>T, rs142693902, NG_027921.1:g.19847=, NP_009187.1:p.Arg111=, NP_009187.1:p.Arg111Leu, NC_000011.10:g.75165833G>T +PA166165137 rs1427407 PA25300 BCL11A NC_000002.12:60490908 1 0 0 0 0 NC_000002.12:g.60490908T>G, NG_011968.1:g.67591=, NC_000002.11:g.60718043=, NG_011968.1:g.67591A>G, 1427407, NC_000002.12:g.60490908=, NC_000002.12:g.60490908T>C, NC_000002.11:g.60718043T>G, 61361884, rs1427407, NC_000002.11:g.60718043T>C, NG_011968.1:g.67591A>C +PA166395021 rs142773283 PA109 CFTR NC_000007.14:117603729 0 0 0 0 1 NG_016465.4:g.142946T>G, NC_000007.13:g.117243783T>C, NP_000483.3:p.Met952Thr, NG_016465.4:g.142946=, NC_000007.13:g.117243783T>G, NC_000007.14:g.117603729T>G, NG_016465.4:g.142946T>C, NP_000483.3:p.Met952Arg, NP_000483.3:p.Met952=, 142773283, NC_000007.14:g.117603729T>C, NC_000007.13:g.117243783=, rs142773283, NC_000007.14:g.117603729= +PA166155636 rs1429376 PA37404 XDH NC_000002.12:31365695 1 1 0 0 0 1429376, NG_008871.2:g.54051T>A, 60163542, NC_000002.11:g.31588561=, NC_000002.12:g.31365695A>C, XM_011533095.1:c.2454-151T>G, rs60163542, NC_000002.11:g.31588561A>C, rs1429376, NC_000002.12:g.31365695=, NG_008871.2:g.54051T>G, NG_008871.2:g.54051=, NM_000379.3:c.2457-151T>G, NG_008871.1:g.54051T>A, NC_000002.12:g.31365695A>T, NG_008871.1:g.54051=, NC_000002.11:g.31588561A>T, NG_008871.1:g.54051T>G, XM_011533096.1:c.2457-151T>G +PA166313066 rs1429705359 PA130 CYP3A4 NC_000007.14:99766424 1 0 0 0 0 NC_000007.13:g.99364047T>C, NG_008421.1:g.22762=, NP_059488.2:p.Gln273=, rs1429705359, NC_000007.14:g.99766424=, NG_008421.1:g.22762A>G, NC_000007.13:g.99364047=, NP_059488.2:p.Gln273Arg, NC_000007.14:g.99766424T>C, 1429705359 +PA166208023 rs142974781 PA124 CYP2C19 NC_000010.11:94775506 1 0 0 0 0 NG_008384.3:g.17826=, NC_000010.10:g.96535263C>T, NC_000010.10:g.96535263=, 142974781, NC_000010.11:g.94775506C>T, NP_000760.1:p.Arg150Cys, NC_000010.11:g.94775506=, NG_008384.3:g.17826C>T, rs142974781, NP_000760.1:p.Arg150= +PA166321181 rs143004875 PA146 DPYS NC_000008.11:104379507_104379510 1 1 0 0 0 NC_000008.11:g.104379513dup, NC_000008.10:g.105391741dup, 143004875, 201590877, NG_008840.2:g.92543del, NC_000008.11:g.104379513del, NC_000008.10:g.105391741del, 370899499, NG_008840.2:g.92542_92543dup, NC_000008.10:g.105391740_105391741dup, NC_000008.10:g.105391735_105391741=, NG_008840.2:g.92543dup, NC_000008.11:g.104379512_104379513dup, NC_000008.11:g.104379507_104379513=, NG_008840.2:g.92537_92543=, rs143004875 +PA166153925 rs143154602 PA145 DPYD NC_000001.11:97593289 1 0 0 1 0 XM_005270561.1:c.946C>T, NM_000110.3:c.1057C>T, NC_000001.10:g.98058845=, NC_000001.10:g.98058845G>T, 143154602, NG_008807.2:g.332771C>A, XP_005270619.2:p.Arg353Cys, XP_005270619.1:p.Arg353Cys, XP_005270620.1:p.Arg353Cys, NC_000001.10:g.98058845G>A, rs143154602, XP_006710460.1:p.Arg353Cys, NP_000101.2:p.Arg353Ser, XM_005270563.1:c.1057C>T, NP_000101.2:p.Arg353Cys, XM_005270562.1:c.1057C>T, XM_005270564.1:c.1057C>T, NC_000001.11:g.97593289G>A, XP_005270618.1:p.Arg316Cys, XM_005270562.3:c.1057C>T, NG_008807.2:g.332771=, XP_005270621.1:p.Arg353Cys, NG_008807.2:g.332771C>T, NP_000101.2:p.Arg353=, NC_000001.11:g.97593289=, NC_000001.11:g.97593289G>T, XM_006710397.2:c.1057C>T +PA166313602 rs143276236 PA134888863 ARFGEF3 NC_000006.12:138176343 1 0 0 0 0 143276236, NC_000006.11:g.138497480C>T, NC_000006.11:g.138497480=, NC_000006.11:g.138497480C>A, NC_000006.12:g.138176343C>T, NC_000006.12:g.138176343=, NC_000006.12:g.138176343C>A, rs143276236 +PA166155367 rs1433099 PA227 LDLR NC_000019.10:11131982 1 1 0 0 0 XM_005259909.1:c.*666T>C, NM_001195803.1:c.*666T>C, 17249043, NM_001195800.1:c.*666T>C, XM_011528010.1:c.*666T>C, XM_011528011.1:c.*666T>C, NM_001195799.1:c.*666T>C, NG_009060.1:g.47602=, NM_001195798.1:c.*666T>C, 61527870, NG_009060.1:g.47602T>C, NC_000019.9:g.11242658=, NC_000019.9:g.11242658T>A, NG_009060.1:g.47602T>A, rs17249043, NC_000019.9:g.11242658T>C, NC_000019.10:g.11131982=, rs1433099, NM_000527.4:c.*666T>C, NC_000019.10:g.11131982T>C, rs61527870, 1433099, NC_000019.10:g.11131982T>A +PA166165332 rs143414470 PA24800 ANK3 NC_000010.11:60536242 1 0 0 0 0 NC_000010.10:g.62296000T>C, NC_000010.10:g.62296000=, rs143414470, NC_000010.11:g.60536242=, NG_029917.1:g.202285=, NC_000010.11:g.60536242T>C, NG_029917.1:g.202285A>G, 143414470 +PA166232863 rs143509841 PA159 F5 NC_000001.11:169555304 1 0 0 0 0 143509841, NP_000121.2:p.Lys332Asn, NC_000001.11:g.169555304T>G, NG_011806.1:g.36228A>C, NP_000121.2:p.Lys332=, NC_000001.10:g.169524542T>G, NC_000001.10:g.169524542=, rs143509841, NC_000001.11:g.169555304=, NG_011806.1:g.36228= +PA166159107 rs1436260 PA29963 ITGBL1 NC_000013.11:101624367 1 0 0 0 0 rs1436260, 58912571, NC_000013.10:g.102276717A>C, 1436260, NC_000013.11:g.101624367A>C, NC_000013.11:g.101624367=, NC_000013.11:g.101624367A>G, NC_000013.10:g.102276717=, NC_000013.10:g.102276717A>G +PA166155553 rs143690364 PA121 CYP2A6 NC_000019.10:40849959 1 1 0 0 0 NC_000019.9:g.41355864C>T, NM_000762.5:c.202G>A, NP_000753.3:p.Val68=, NG_008377.1:g.5489=, NC_000019.10:g.40849959C>T, 143690364, NC_000019.10:g.40849959=, XM_005258568.1:c.190+278G>A, rs143690364, NP_000753.3:p.Val68Met, NG_008377.1:g.5489G>A, NC_000019.9:g.41355864= +PA166233321 rs1437153 NC_000016.10:64410685 1 1 0 0 0 rs1437153, NC_000016.10:g.64410685G>A, NC_000016.10:g.64410685G>T, NC_000016.9:g.64444588=, NC_000016.9:g.64444588G>A, 1437153, NC_000016.10:g.64410685=, NC_000016.9:g.64444588G>T +PA166171204 rs143718310 PA107 CES1 NC_000016.10:55823580 1 0 0 0 0 NG_012057.1:g.14584=, NC_000016.10:g.55823580=, rs143718310, NP_001257.4:p.Gln169Pro, NC_000016.9:g.55857492=, NP_001257.4:p.Gln169=, NC_000016.9:g.55857492T>G, NG_012057.1:g.14584A>C, NC_000016.10:g.55823580T>G, 143718310 +PA166155554 rs143731390 PA121 CYP2A6 NC_000019.10:40843969 11 3 3 0 0 NC_000019.9:g.41349874T>A, NC_000019.9:g.41349874=, NG_008377.1:g.11479=, rs143731390, 143731390, NM_000762.5:c.1312A>T, NP_000753.3:p.Asn438=, XM_005258568.1:c.1159A>T, NC_000019.10:g.40843969=, NC_000019.10:g.40843969T>A, NP_000753.3:p.Asn438Tyr, NG_008377.1:g.11479A>T, XP_005258625.1:p.Asn387Tyr +PA166159776 rs143815742 PA145 DPYD NC_000001.11:97573918 1 0 0 1 0 NG_008807.2:g.352142=, NC_000001.10:g.98039474=, 143815742, NP_000101.2:p.Arg394Leu, rs143815742, NC_000001.11:g.97573918C>A, NG_008807.2:g.352142G>T, NP_000101.2:p.Arg394=, NC_000001.11:g.97573918=, NP_000101.2:p.Arg394Gln, NC_000001.10:g.98039474C>A, NC_000001.10:g.98039474C>T, NG_008807.2:g.352142G>A, NC_000001.11:g.97573918C>T +PA166208143 rs143833145 PA124 CYP2C19 NC_000010.11:94842882 1 0 0 0 0 143833145, NC_000010.10:g.96602639G>T, NC_000010.10:g.96602639=, NC_000010.11:g.94842882G>T, NG_008384.3:g.85202G>A, NP_000760.1:p.Ser336Asn, NC_000010.10:g.96602639G>A, NP_000760.1:p.Ser336Ile, rs143833145, NC_000010.11:g.94842882=, NC_000010.11:g.94842882G>A, NG_008384.3:g.85202G>T, NP_000760.1:p.Ser336=, NG_008384.3:g.85202= +PA166262081 rs143841823 PA121 CYP2A6 NC_000019.10:40845400 1 0 0 0 0 NG_008377.1:g.10048T>C, NP_000753.3:p.Met352=, 143841823, NC_000019.10:g.40845400=, NC_000019.9:g.41351305=, NC_000019.10:g.40845400A>G, NG_008377.1:g.10048=, NP_000753.3:p.Met352Thr, NC_000019.9:g.41351305A>G, rs143841823 +PA166156763 rs1438692 PA162375772 AFAP1L1 NC_000005.10:149280101 1 0 0 0 0 NC_000005.9:g.148659664G>A, XM_005268373.2:c.16+8117G>A, NM_001146337.1:c.16+8117G>A, 17709539, XM_005268373.1:c.16+8117G>A, 60114206, NC_000005.9:g.148659664=, rs1438692, 1438692, NC_000005.10:g.149280101G>A, rs60114206, NC_000005.10:g.149280101=, rs17709539, NM_152406.2:c.16+8117G>A +PA166179507 rs143879757 PA145 DPYD NC_000001.11:97595124 3 1 0 0 0 NC_000001.10:g.98060680G>T, NC_000001.11:g.97595124G>A, NG_008807.2:g.330936C>A, 143879757, NG_008807.2:g.330936=, NG_008807.2:g.330936C>T, NC_000001.10:g.98060680G>A, rs143879757, NP_000101.2:p.Thr298=, NC_000001.11:g.97595124G>T, NP_000101.2:p.Thr298Met, NC_000001.11:g.97595124=, NC_000001.10:g.98060680=, NP_000101.2:p.Thr298Lys +PA166162476 rs1439010 NC_000003.12:152828806 1 0 0 0 0 1439010, NC_000003.12:g.152828806=, rs1439010, 58911104, NC_000003.12:g.152828806A>G, NC_000003.11:g.152546595=, NC_000003.11:g.152546595A>G +PA166161252 rs1439050 PA31818 NTRK2 NC_000009.12:84673278 2 1 0 0 0 NC_000009.11:g.87288193G>T, NC_000009.12:g.84673278=, NC_000009.11:g.87288193=, NG_012201.2:g.9728G>T, NC_000009.12:g.84673278G>A, 60969175, 1439050, 386531918, NG_012201.2:g.9728=, rs1439050, NC_000009.11:g.87288193G>A, NG_012201.2:g.9728G>A, NC_000009.12:g.84673278G>T +PA166153926 rs143986398 PA145 DPYD NC_000001.11:97740439 1 0 0 0 0 NM_000110.3:c.274C>G, XM_005270562.3:c.274C>G, XM_005270563.1:c.274C>G, XP_005270618.1:p.Pro55Ala, NG_008807.2:g.185621=, NM_001160301.1:c.274C>G, XP_005270620.1:p.Pro92Ala, NP_000101.2:p.Pro92Ala, 143986398, NG_008807.2:g.185621C>G, NP_000101.2:p.Pro92=, XM_005270564.1:c.274C>G, NC_000001.11:g.97740439G>C, XP_005270619.1:p.Pro92Ala, NC_000001.10:g.98205995G>C, NC_000001.10:g.98205995=, XP_005270619.2:p.Pro92Ala, XP_006710460.1:p.Pro92Ala, XM_005270562.1:c.274C>G, XP_005270621.1:p.Pro92Ala, XM_006710397.2:c.274C>G, rs143986398, NP_001153773.1:p.Pro92Ala, XM_005270561.1:c.163C>G, NC_000001.11:g.97740439= +PA166154216 rs144036596 PA124 CYP2C19 NC_000010.11:94842953 1 0 0 0 0 NC_000010.10:g.96602710G>A, NC_000010.10:g.96602710G>C, NG_008384.3:g.85273G>C, NG_008384.3:g.85273G>A, NP_000760.1:p.Asp360Asn, NC_000010.11:g.94842953G>T, rs144036596, NP_000760.1:p.Asp360His, NG_008384.3:g.85273=, NP_000760.1:p.Asp360=, NC_000010.10:g.96602710G>T, NG_008384.3:g.85273G>T, NM_000769.1:c.1078G>A, NG_008384.2:g.85248G>A, NM_000769.2:c.1078G>A, NC_000010.11:g.94842953=, NC_000010.11:g.94842953G>A, NC_000010.10:g.96602710=, NP_000760.1:p.Asp360Tyr, 144036596, NC_000010.11:g.94842953G>C +PA166157227 rs144041067 PA356 TPMT NC_000006.12:18138969 6 1 1 0 0 NC_000006.12:g.18138969C>G, XP_011513141.1:p.Arg163His, 144041067, XP_011513142.1:p.Arg140His, NC_000006.11:g.18139200=, XM_011514839.1:c.488G>A, XM_011514840.1:c.419G>A, NC_000006.11:g.18139200C>T, NM_000367.3:c.488G>A, NP_000358.1:p.Arg163=, NG_012137.2:g.21175G>A, NG_012137.2:g.21175=, NP_000358.1:p.Arg163His, NC_000006.12:g.18138969C>T, rs144041067, NC_000006.12:g.18138969= +PA166157295 rs1440451 PA29558 HTR5A NC_000007.14:155077169 1 0 0 0 0 NC_000007.14:g.155077169=, 10321327, rs59745825, NG_044997.1:g.11846G>C, NG_044997.1:g.11846G>A, 17837394, rs1440451, 1440451, NC_000007.13:g.154868879G>T, NC_000007.13:g.154868879=, 59745825, NG_044997.1:g.11846=, rs56554708, rs59321107, NC_000007.14:g.155077169G>T, NG_044997.1:g.11846G>T, NC_000007.13:g.154868879G>A, NC_000007.13:g.154868879G>C, rs17837394, NM_024012.3:c.741+5529G>C, NC_000007.14:g.155077169G>A, NC_000007.14:g.155077169G>C, 59321107, 56554708, rs10321327 +PA166395121 rs144055758 PA109 CFTR NC_000007.14:117610625 0 0 0 0 1 NC_000007.14:g.117610625=, NC_000007.13:g.117250679A>G, NG_056128.2:g.3679=, rs144055758, NC_000007.14:g.117610625A>G, NG_016465.4:g.149842=, NP_000483.3:p.Tyr1032Cys, NP_000483.3:p.Tyr1032=, 144055758, NC_000007.13:g.117250679=, NG_016465.4:g.149842A>G, NG_056128.2:g.3679A>G +PA166208166 rs144056033 PA124 CYP2C19 NC_000010.11:94849983 1 0 0 0 0 NC_000010.10:g.96609740=, NP_000760.1:p.Met406Val, rs144056033, 144056033, NC_000010.10:g.96609740A>G, NP_000760.1:p.Met406=, NG_008384.3:g.92303=, NG_008384.3:g.92303A>G, NC_000010.11:g.94849983A>G, NC_000010.11:g.94849983= +PA166155142 rs144315541 PA30 ADCY9 NC_000016.10:4141521 1 0 0 0 0 144315541, NC_000016.9:g.4191522G>A, NC_000016.10:g.4141521G>A, NC_000016.10:g.4141521=, rs144315541, NC_000016.9:g.4191522= +PA166180325 rs144336148 PA34896 RYR1 NC_000019.10:38455472 1 1 0 1 0 rs144336148, NG_008866.1:g.26773G>A, NP_000531.2:p.Arg533=, NC_000019.10:g.38455472G>A, NP_000531.2:p.Arg533His, 144336148, NG_008866.1:g.26773=, NC_000019.9:g.38946112G>A, NC_000019.10:g.38455472=, NC_000019.9:g.38946112= +PA166159781 rs144395748 PA145 DPYD NC_000001.11:97549726 1 0 0 1 0 144395748, NP_000101.2:p.Pro453His, NG_008807.2:g.376334C>G, NP_000101.2:p.Pro453Arg, NC_000001.10:g.98015282G>T, NP_000101.2:p.Pro453=, NG_008807.2:g.376334C>A, rs144395748, NC_000001.11:g.97549726G>C, NC_000001.10:g.98015282G>C, NC_000001.11:g.97549726=, NC_000001.10:g.98015282=, NC_000001.11:g.97549726G>T, NG_008807.2:g.376334=, 199469535 +PA166165330 rs144470777 PA134961151 NSUN3 NC_000003.12:94124541 1 0 0 0 0 rs144470777, NC_000003.12:g.94124541=, NC_000003.11:g.93843385C>T, NC_000003.11:g.93843385=, NC_000003.12:g.94124541C>T, 144470777 +PA166394801 rs144476686 PA109 CFTR NC_000007.14:117540188 0 0 0 0 1 144476686, NC_000007.14:g.117540188T>G, NG_016465.4:g.79405T>G, NC_000007.13:g.117180242=, NG_016465.4:g.79405=, NP_000483.3:p.Leu320=, NP_000483.3:p.Leu320Val, rs144476686, NC_000007.14:g.117540188=, NC_000007.13:g.117180242T>G +PA166199061 rs1446468 NC_000002.12:164106976 1 1 0 0 0 NC_000002.12:g.164106976=, NC_000002.11:g.164963486=, 1446468, NC_000002.11:g.164963486T>A, rs1446468, NC_000002.11:g.164963486T>C, NC_000002.12:g.164106976T>A, NC_000002.12:g.164106976T>C +PA166246001 rs144650170 PA24363 AADAC NC_000003.12:151817447 1 0 0 0 0 NC_000003.11:g.151535235=, NC_000003.12:g.151817447A>G, NP_001077.2:p.Thr74=, NC_000003.11:g.151535235A>G, 144650170, rs144650170, NC_000003.12:g.151817447=, NP_001077.2:p.Thr74Ala +PA166157228 rs144854329 PA37302 VEGFA NC_000006.12:43768679_43768698 2 1 0 0 0 NM_001171623.1:c.-2568_-2551del, NM_001025366.2:c.-2028_-2011del, NM_001025366.2:c.-2028_-2011del18, NM_001171623.1:c.-2568_-2551del18, NM_001033756.2:c.-2028_-2011del18, NM_001025370.2:c.-2028_-2011del, NM_001171628.1:c.-2568_-2551del18, NM_001171629.1:c.-2568_-2551del, rs144854329, NM_001171624.1:c.-2568_-2551del18, NM_001171629.1:c.-2568_-2551del18, NM_001171622.1:c.-2028_-2011del, NM_001025370.2:c.-2028_-2011del18, 144854329, NG_008732.1:g.3466_3483dup, NM_001171627.1:c.-2568_-2551del, NM_001171625.1:c.-2568_-2551del, NC_000006.12:g.43768681_43768698dup, NG_008732.1:g.3466_3483del, NM_001025367.2:c.-2028_-2011del18, NC_000006.11:g.43736416_43736435=, NM_001317010.1:c.-2568_-2551del18, NM_001204384.1:c.-2568_-2551del, NM_003376.5:c.-2028_-2011del18, NM_001171630.1:c.-2568_-2551del, NM_001025369.2:c.-2028_-2011del, NC_000006.12:g.43768679_43768698=, NM_001025368.2:c.-2028_-2011del, NM_001171625.1:c.-2568_-2551del18, NM_001171622.1:c.-2028_-2011del18, NM_001171624.1:c.-2568_-2551del, NM_001025367.2:c.-2028_-2011del, NM_001171630.1:c.-2568_-2551del18, NM_001171626.1:c.-2568_-2551del18, NM_001204385.1:c.-2028_-2011del18, NC_000006.11:g.43736418_43736435del, NM_001033756.2:c.-2028_-2011del, NC_000006.11:g.43736418_43736435dup, NM_001025368.2:c.-2028_-2011del18, NM_001171628.1:c.-2568_-2551del, NC_000006.12:g.43768681_43768698del, NG_008732.1:g.3464_3483=, NM_001171626.1:c.-2568_-2551del, NC_000006.12:g.43768679_43768696del18, NM_001171627.1:c.-2568_-2551del18, NM_001204385.1:c.-2028_-2011del, 60952842, NG_008732.1:g.3464_3481del18, NM_003376.5:c.-2028_-2011del, NM_001204384.1:c.-2568_-2551del18, NM_001025369.2:c.-2028_-2011del18, NM_001317010.1:c.-2568_-2551del, NC_000006.11:g.43736416_43736433del18 +PA166157296 rs1448673 NC_000007.14:17565446 1 1 0 0 0 10368730, 386532310, 61485269, rs61485269, NC_000007.14:g.17565446=, rs1448673, rs10368730, rs386532310, NC_000007.13:g.17605070A>T, 1448673, NC_000007.14:g.17565446A>T, NC_000007.14:g.17565446A>G, NC_000007.13:g.17605070=, NC_000007.13:g.17605070A>G +PA166279101 rs1448784 PA390 ABCG2 NC_000004.12:88091168 1 0 0 0 0 NC_000004.12:g.88091168=, NC_000004.11:g.89012320=, NC_000004.12:g.88091168A>G, 1448784, NG_032067.2:g.145155=, NC_000004.11:g.89012320A>G, rs1448784, NG_032067.2:g.145155T>C +PA166186018 rs144928727 PA124 CYP2C19 NC_000010.11:94762770 3 1 0 0 0 NC_000010.10:g.96522527=, NG_055436.1:g.2130=, rs144928727, NP_000760.1:p.Gln22Arg, 144928727, NC_000010.11:g.94762770=, NC_000010.11:g.94762770A>G, NC_000010.10:g.96522527A>G, NG_008384.3:g.5090=, NP_000760.1:p.Gln22=, NG_008384.3:g.5090A>G, NG_055436.1:g.2130A>G +PA166319841 rs144935781 PA145 DPYD NC_000001.11:97573970 1 0 0 0 0 144935781, NG_008807.2:g.352090A>T, NP_000101.2:p.Met377=, NC_000001.11:g.97573970=, NC_000001.10:g.98039526T>C, NG_008807.2:g.352090A>G, NP_000101.2:p.Met377Val, NP_000101.2:p.Met377Leu, NG_008807.2:g.352090=, NC_000001.11:g.97573970T>C, NC_000001.11:g.97573970T>A, NC_000001.10:g.98039526=, rs144935781, NC_000001.10:g.98039526T>A +PA166156513 rs1449683 PA28115 FGF2 NC_000004.12:122826931 1 1 0 0 0 XP_005262893.1:p.Ser90=, NG_029067.2:g.5224=, NC_000004.11:g.123748086=, NG_029067.2:g.5224C>T, NG_052023.1:g.1342=, NG_029067.1:g.5224C>T, NC_000004.11:g.123748086C>G, NG_029067.2:g.5224C>G, rs1449683, 1449683, XM_005262836.1:c.270C>T, NG_052023.1:g.1342C>T, NC_000004.12:g.122826931=, NC_000004.12:g.122826931C>G, NG_052023.1:g.1342C>G, NC_000004.11:g.123748086C>T, NG_029067.1:g.5224C>G, NM_002006.4:c.156C>T, NP_001997.5:p.Ser52=, NC_000004.12:g.122826931C>T, NG_029067.1:g.5224= +PA166242084 rs1449865051 PA130 CYP3A4 NC_000007.14:99770217 17 1 1 0 0 rs1449865051, NG_008421.1:g.18969=, NC_000007.13:g.99367840=, NC_000007.14:g.99770217A>T, NP_059488.2:p.Phe113=, 1449865051, NC_000007.14:g.99770217=, NP_059488.2:p.Phe113Ile, NC_000007.13:g.99367840A>T, NG_008421.1:g.18969T>A +PA166178395 rs144991623 NC_000013.11:40694197 1 1 0 0 0 NC_000013.11:g.40694197C>T, rs144991623, NC_000013.11:g.40694197=, NC_000013.10:g.41268333C>T, NC_000013.10:g.41268333=, 144991623 +PA166238001 rs145014075 PA121 CYP2A6 NC_000019.10:40843881 1 1 0 0 0 rs145014075, NG_008377.1:g.11567C>A, NP_000753.3:p.Ser467=, NC_000019.9:g.41349786=, 145014075, NG_008377.1:g.11567=, NC_000019.9:g.41349786G>T, NP_000753.3:p.Ser467Ter, NC_000019.10:g.40843881=, NC_000019.10:g.40843881G>T +PA166159773 rs145112791 PA145 DPYD NC_000001.11:97595083 1 0 0 1 0 rs145112791, NC_000001.11:g.97595083=, NG_008807.2:g.330977C>T, 145112791, NG_008807.2:g.330977=, NP_000101.2:p.Leu312=, NC_000001.10:g.98060639=, NC_000001.11:g.97595083G>A, NC_000001.10:g.98060639G>A, NP_000101.2:p.Leu312Phe +PA166154217 rs145119820 PA124 CYP2C19 NC_000010.11:94775395 4 1 0 0 0 NC_000010.11:g.94775395G>A, NM_000769.1:c.337G>A, NP_000760.1:p.Val113=, NG_008384.2:g.17690G>A, NG_008384.3:g.17715=, NP_000760.1:p.Val113Ile, 145119820, NC_000010.10:g.96535152G>A, NG_008384.3:g.17715G>A, rs145119820, NC_000010.10:g.96535152=, NC_000010.11:g.94775395=, NM_000769.2:c.337G>A +PA166157297 rs1451371 PA140 DDC NC_000007.14:50485353 2 0 0 0 0 1451371, rs1451371, XM_005271744.1:c.945-5490A>G, XM_005271745.3:c.831-5490A>G, NC_000007.14:g.50485353=, NM_000790.3:c.945-5490A>G, rs11575439, NM_001242887.1:c.801-5490A>G, NM_001242888.1:c.711-5490A>G, NC_000007.13:g.50553051=, NG_008742.1:g.85104=, NG_008742.1:g.85104A>G, NM_001242886.1:c.831-5490A>G, XM_005271745.1:c.831-5490A>G, NC_000007.13:g.50553051T>C, XM_011515161.1:c.594-5490A>G, NM_001082971.1:c.945-5490A>G, NM_001242889.1:c.666-5490A>G, 11575439, NC_000007.14:g.50485353T>C +PA166262009 rs145157460 PA121 CYP2A6 NC_000019.10:40846937 1 1 0 0 0 NC_000019.10:g.40846937=, NC_000019.9:g.41352842G>C, NP_000753.3:p.Arg257Cys, NC_000019.9:g.41352842G>A, NC_000019.10:g.40846937G>T, NP_000753.3:p.Arg257=, NG_008377.1:g.8511C>A, 145157460, NP_000753.3:p.Arg257Gly, NG_008377.1:g.8511C>G, NC_000019.9:g.41352842G>T, NG_008377.1:g.8511=, rs145157460, NC_000019.10:g.40846937G>C, NC_000019.10:g.40846937G>A, NP_000753.3:p.Arg257Ser, NC_000019.9:g.41352842=, NG_008377.1:g.8511C>T +PA166262061 rs145308399 PA121 CYP2A6 NC_000019.10:40849872 1 1 0 0 0 NP_000753.3:p.Glu97Lys, rs145308399, NC_000019.10:g.40849872=, NC_000019.10:g.40849872C>T, NG_008377.1:g.5576=, NG_008377.1:g.5576G>A, NC_000019.9:g.41355777C>T, 145308399, NC_000019.9:g.41355777=, NP_000753.3:p.Glu97= +PA166154218 rs145328984 PA124 CYP2C19 NC_000010.11:94775106 10 1 1 0 0 NM_000769.1:c.217C>T, NG_008384.3:g.17426=, NP_000760.1:p.Arg73=, 145328984, NG_008384.3:g.17426C>T, NC_000010.11:g.94775106C>T, NP_000760.1:p.Arg73Ser, NG_008384.2:g.17401C>T, rs145328984, NC_000010.10:g.96534863=, NP_000760.1:p.Arg73Cys, NC_000010.10:g.96534863C>A, NC_000010.11:g.94775106=, NC_000010.10:g.96534863C>T, NM_000769.2:c.217C>T, NG_008384.3:g.17426C>A, NC_000010.11:g.94775106C>A +PA166154327 rs1453542 PA32273 OR4D6 NC_000011.10:59457412 1 0 0 0 0 NC_000011.10:g.59457412G>C, NM_001004708.1:c.452G>C, rs17500408, rs1453542, 111170546, 1453542, NC_000011.10:g.59457412G>A, 59413929, rs111170546, NP_001004708.1:p.Ser151Asn, 17500408, NP_001004708.1:p.Ser151Thr, rs59413929, NP_001004708.1:p.Ser151=, NC_000011.9:g.59224885G>C, NC_000011.9:g.59224885=, NC_000011.9:g.59224885G>A, NC_000011.10:g.59457412= +PA166394981 rs145449046 PA109 CFTR NC_000007.14:117592541 0 0 0 0 1 NG_016465.4:g.131758=, NG_016465.4:g.131758C>T, NC_000007.14:g.117592541C>T, NP_000483.3:p.Arg792=, rs145449046, NC_000007.14:g.117592541=, NP_000483.3:p.Arg792Gly, NC_000007.13:g.117232595C>G, NC_000007.13:g.117232595C>A, NC_000007.14:g.117592541C>G, NC_000007.14:g.117592541C>A, NP_000483.3:p.Arg792Ter, NG_016465.4:g.131758C>A, NC_000007.13:g.117232595=, NC_000007.13:g.117232595C>T, NG_016465.4:g.131758C>G, 145449046 +PA166157229 rs145450955 PA331 SLC22A2 NC_000006.12:160250619 1 0 0 0 0 NC_000006.11:g.160671651G>A, 145450955, NC_000006.12:g.160250619G>A, NC_000006.12:g.160250619=, rs145450955, NP_003049.2:p.Thr201=, NC_000006.11:g.160671651=, NP_003049.2:p.Thr201Met, NM_003058.3:c.602C>T +PA166156701 rs145489027 PA134893552 KCNIP4 NC_000004.12:21389571 2 1 0 0 0 NM_001035004.1:c.-24+154819C>T, NM_001035003.1:c.88+307779C>T, XM_011513886.1:c.62-538904C>T, XM_011513885.1:c.88+307779C>T, NC_000004.11:g.21391194=, NC_000004.11:g.21391194G>A, rs145489027, XM_011513887.1:c.-24+154819C>T, XM_005248191.1:c.62-538904C>T, NC_000004.12:g.21389571=, NC_000004.12:g.21389571G>A, NM_025221.5:c.62-506862C>T, NG_052969.1:g.564181C>T, NM_147182.3:c.-24+373350C>T, XM_011513888.1:c.-24+373350C>T, NG_052969.1:g.564181=, XM_011513882.1:c.62-506862C>T, 145489027, NM_147181.3:c.62-538904C>T +PA166159797 rs145529148 PA145 DPYD NC_000001.11:97079139 1 0 0 1 0 NP_000101.2:p.Gln972Arg, NC_000001.11:g.97079139T>C, NC_000001.10:g.97544695T>C, NP_000101.2:p.Gln972=, NG_008807.2:g.846921A>G, 145529148, rs145529148, NC_000001.11:g.97079139=, NG_008807.2:g.846921=, NC_000001.10:g.97544695= +PA166159791 rs145548112 PA145 DPYD NC_000001.11:97306195 1 0 0 1 0 NP_000101.2:p.Ala721Ser, NP_000101.2:p.Ala721Thr, 145548112, 199469552, NC_000001.11:g.97306195C>G, NG_008807.2:g.619865G>A, NC_000001.11:g.97306195=, NC_000001.10:g.97771751C>A, NG_008807.2:g.619865G>C, NG_008807.2:g.619865=, NC_000001.11:g.97306195C>A, NC_000001.10:g.97771751C>G, NC_000001.10:g.97771751=, NG_008807.2:g.619865G>T, NP_000101.2:p.Ala721Pro, NC_000001.11:g.97306195C>T, rs145548112, NP_000101.2:p.Ala721=, NC_000001.10:g.97771751C>T +PA166313065 rs145582851 PA130 CYP3A4 NC_000007.14:99766439 1 0 0 0 0 NC_000007.14:g.99766439=, NP_059488.2:p.Arg268=, NC_000007.14:g.99766439C>T, NC_000007.13:g.99364062C>T, rs145582851, NG_008421.1:g.22747=, NP_059488.2:p.Arg268Gln, 145582851, NG_008421.1:g.22747G>A, NC_000007.13:g.99364062= +PA166178414 rs145623321 PA134877725 MAST3 NC_000019.10:18145130 1 1 0 0 0 NC_000019.10:g.18145130C>T, NC_000019.9:g.18255940C>T, 145623321, NC_000019.10:g.18145130=, NP_055831.1:p.Ile951=, NC_000019.9:g.18255940=, 386474668, rs145623321 +PA166185755 rs1456862 PA134968284 ADGRL3 NC_000004.12:61380610 1 1 0 0 0 NC_000004.11:g.62246328=, 1456862, NC_000004.12:g.61380610A>T, NG_033950.2:g.184355A>T, NC_000004.11:g.62246328A>T, NG_033950.2:g.184355=, NC_000004.12:g.61380610=, rs1456862 +PA166157557 rs1457266 PA162397442 NEFM NC_000008.11:24912339 1 0 0 0 0 NC_000008.10:g.24769852A>G, XM_005273508.1:c.-1455A>G, NC_000008.10:g.24769852A>C, XM_005273507.1:c.-1455A>G, 3824126, NC_000008.11:g.24912339A>T, NG_008388.1:g.3579A>T, rs3824126, XR_949590.1:n.194+8445T>C, NM_005382.2:c.-1455A>G, NC_000008.10:g.24769852A>T, NG_008388.1:g.3579A>G, NC_000008.11:g.24912339A>C, NG_008388.1:g.3579A>C, 1457266, NC_000008.10:g.24769852=, NG_008388.1:g.3579=, NC_000008.11:g.24912339A>G, rs1457266, NC_000008.11:g.24912339= +PA166153927 rs145773863 PA145 DPYD NC_000001.11:97450187 1 0 0 1 0 XM_005270563.1:c.1777G>A, XM_005270562.1:c.1561G>A, XP_005270620.1:p.Gly593Arg, NC_000001.11:g.97450187=, NG_008807.2:g.475873=, NM_000110.3:c.1777G>A, NP_000101.2:p.Gly593=, NC_000001.11:g.97450187C>T, NC_000001.10:g.97915743C>T, 145773863, NG_008807.2:g.475873G>A, NC_000001.10:g.97915743=, NP_000101.2:p.Gly593Arg, XP_005270618.1:p.Gly556Arg, XM_006710397.2:c.1777G>A, XP_005270619.1:p.Gly521Arg, rs145773863, XP_006710460.1:p.Gly593Arg, XM_005270561.1:c.1666G>A, XM_005270562.3:c.1561G>A, XP_005270619.2:p.Gly521Arg +PA166156514 rs1458038 PA28122 FGF5 NC_000004.12:80243569 2 0 0 0 0 rs61639674, NC_000004.12:g.80243569=, NC_000004.11:g.81164723C>T, NC_000004.11:g.81164723=, NC_000004.12:g.80243569C>T, XR_938930.1:n.186+11283C>T, rs1458038, 1458038, 61639674 +PA166196166 rs145837941 PA26029 CALCA NC_000011.10:14969965 4 1 0 0 0 NC_000011.10:g.14969965A>G, NP_001732.1:p.Leu66=, NG_015960.1:g.7322T>C, 145837941, NC_000011.9:g.14991511=, NC_000011.9:g.14991511A>G, rs145837941, NG_015960.1:g.7322=, NC_000011.10:g.14969965=, NP_001732.1:p.Leu66Pro +PA166183858 rs1461773 PA31945 OPRM1 NC_000006.12:154070234 1 1 0 0 0 NG_021208.2:g.64734=, NG_021208.2:g.64734G>A, NC_000006.12:g.154070234=, NC_000006.12:g.154070234G>A, 1461773, NC_000006.11:g.154391369G>A, rs1461773, NC_000006.11:g.154391369= +PA166289921 rs1463411 PA166176239 MIR6076 NC_000014.9:49966393 2 0 0 0 0 NC_000014.9:g.49966393=, NC_000014.8:g.50433111=, NC_000014.8:g.50433111T>G, NC_000014.9:g.49966393T>A, NC_000014.9:g.49966393T>G, 1463411, 58804401, NC_000014.8:g.50433111T>A, rs1463411 +PA166181754 rs1463550071 PA124 CYP2C19 NC_000010.11:94849975 3 0 0 0 0 NC_000010.10:g.96609732=, NP_000760.1:p.Asn403Ile, NP_000760.1:p.Asn403=, NC_000010.11:g.94849975A>T, NG_008384.3:g.92295=, rs1463550071, NG_008384.3:g.92295A>T, NC_000010.11:g.94849975=, NC_000010.10:g.96609732A>T, 1463550071 +PA166181282 rs1463565 PA134865839 SLCO1B1 NC_000012.12:21182447 1 0 0 0 0 NC_000012.11:g.21335381G>C, 57170846, NG_011745.1:g.56254G>C, 1463565, NC_000012.12:g.21182447G>T, rs1463565, 4290279, NC_000012.11:g.21335381G>T, NC_000012.12:g.21182447=, NG_011745.1:g.56254G>T, NC_000012.12:g.21182447G>C, NC_000012.11:g.21335381=, NG_011745.1:g.56254= +PA166153928 rs146356975 PA145 DPYD NC_000001.11:97595149 1 0 0 1 0 NM_000110.3:c.868A>G, XP_005270621.1:p.Lys290Glu, 146356975, NP_000101.2:p.Lys290=, XP_005270619.1:p.Lys290Glu, NG_008807.2:g.330911=, NC_000001.10:g.98060705T>C, XM_005270562.1:c.868A>G, NP_000101.2:p.Lys290Glu, XM_005270564.1:c.868A>G, XP_006710460.1:p.Lys290Glu, NC_000001.10:g.98060705=, NC_000001.11:g.97595149T>C, rs146356975, XP_005270620.1:p.Lys290Glu, NC_000001.11:g.97595149=, XP_005270618.1:p.Lys253Glu, XM_005270561.1:c.757A>G, XP_005270619.2:p.Lys290Glu, XM_005270563.1:c.868A>G, XM_006710397.2:c.868A>G, NG_008807.2:g.330911A>G, XM_005270562.3:c.868A>G +PA166155557 rs146429605 PA34896 RYR1 NC_000019.10:38483293 1 0 0 0 0 rs146429605, XM_011527204.1:c.4708A>G, XM_011527205.1:c.4711A>G, NP_000531.2:p.Ile1571=, XP_011525507.1:p.Ile1571Val, XM_006723317.1:c.4711A>G, NG_008866.1:g.54594=, NM_000540.2:c.4711A>G, 146429605, NC_000019.9:g.38973933A>G, XP_006723380.1:p.Ile1571Val, XM_006723319.1:c.4711A>G, XP_011525506.1:p.Ile1570Val, NC_000019.10:g.38483293A>G, NM_001042723.1:c.4711A>G, NP_000531.2:p.Ile1571Val, XP_006723382.1:p.Ile1571Val, NC_000019.9:g.38973933=, NG_008866.1:g.54594A>G, NP_001036188.1:p.Ile1571Val, NC_000019.10:g.38483293= +PA166171199 rs146456965 PA107 CES1 NC_000016.10:55823647 1 0 0 0 0 146456965, NC_000016.10:g.55823647=, NC_000016.9:g.55857559=, NP_001257.4:p.Gly147Cys, NP_001257.4:p.Gly147=, rs146456965, NC_000016.10:g.55823647C>A, NC_000016.9:g.55857559C>A, NG_012057.1:g.14517=, NG_012057.1:g.14517G>T +PA166156316 rs1464602 PA378 NR1I2 NC_000003.12:119807525 2 0 0 0 0 XM_005247866.1:c.32+78G>A, NG_011856.1:g.32042G>A, NC_000003.12:g.119807525=, NM_003889.3:c.197+78G>A, NC_000003.11:g.119526372=, rs1464602, NM_033013.2:c.197+78G>A, 1464602, NC_000003.12:g.119807525G>A, NC_000003.11:g.119526372G>A, NG_011856.1:g.32042=, NM_022002.2:c.314+78G>A +PA166156317 rs1464603 PA378 NR1I2 NC_000003.12:119807502 1 0 0 0 0 NG_011856.1:g.32019=, NC_000003.11:g.119526349=, NC_000003.12:g.119807502G>A, NM_033013.2:c.197+55G>A, XM_005247866.1:c.32+55G>A, 1464603, NC_000003.12:g.119807502=, rs1464603, NG_011856.1:g.32019G>A, NC_000003.11:g.119526349G>A, NM_003889.3:c.197+55G>A, NM_022002.2:c.314+55G>A +PA166159792 rs146529561 PA145 DPYD NC_000001.11:97305372 1 0 0 1 0 NC_000001.10:g.97770928G>A, NP_000101.2:p.Ala729=, NG_008807.2:g.620688=, NC_000001.10:g.97770928=, 146529561, NC_000001.11:g.97305372=, NG_008807.2:g.620688C>T, NP_000101.2:p.Ala729Val, NC_000001.11:g.97305372G>A, rs146529561 +PA166165362 rs146644707 NC_000012.12:25719775 1 0 0 0 0 NC_000012.12:g.25719775=, NC_000012.11:g.25872709T>C, NC_000012.12:g.25719775T>C, 146644707, rs146644707, NC_000012.11:g.25872709= +PA166155279 rs1466882 NC_000018.10:4970507 1 0 0 0 0 1466882, rs386533129, NC_000018.10:g.4970507=, NC_000018.9:g.4970506=, NC_000018.9:g.4970506A>C, NC_000018.10:g.4970507A>C, rs58827895, rs1466882, 386533129, 58827895 +PA166178794 rs146708960 PA397 ABCC4 NC_000013.11:95161318 1 0 0 0 0 rs146708960, NC_000013.11:g.95161318C>T, NC_000013.10:g.95813572=, NC_000013.11:g.95161318=, 146708960, NG_050651.1:g.145129=, NG_050651.1:g.145129G>A, NP_005836.2:p.Val776Ile, NP_005836.2:p.Val776=, NC_000013.10:g.95813572C>T +PA166154328 rs1467558 PA26221 CD44 NC_000011.10:35208126 1 0 0 0 0 rs17375486, XP_005253293.1:p.Ile394Thr, XM_005253239.1:c.944T>C, XM_011520488.1:c.689T>C, rs61254354, XM_005253240.1:c.815T>C, XM_005253241.1:c.689T>C, XP_005253296.1:p.Ile315Thr, XP_011518790.1:p.Ile230Thr, XP_005253297.1:p.Ile272Thr, NP_001001389.1:p.Ile436Thr, 52835516, rs1467558, XP_005253289.1:p.Ile479Thr, rs17856114, 1467558, XM_005253233.1:c.1319T>C, NP_000601.3:p.Ile479=, rs52835516, NG_008937.1:g.74257T>C, XP_011518784.1:p.Ile480Thr, XM_005253238.2:c.950T>C, NM_001001389.1:c.1307T>C, NM_000610.3:c.1436T>C, XM_005253231.1:c.1439T>C, XM_005253232.2:c.1436T>C, NC_000011.10:g.35208126=, XM_005253235.2:c.1310T>C, XM_005253236.1:c.1181T>C, NG_008937.1:g.74257T>G, XP_011518786.1:p.Ile394Thr, XP_005253294.1:p.Ile393Thr, XM_005253234.1:c.1316T>C, NM_001202557.1:c.668-6726T>C, NC_000011.9:g.35229673=, NC_000011.10:g.35208126T>C, XM_005253237.1:c.1178T>C, XM_005253239.2:c.944T>C, NM_001202555.1:c.668-3120T>C, XP_005253290.1:p.Ile440Thr, 56467545, NG_008937.1:g.74257=, NM_001001390.1:c.689T>C, XM_011520485.1:c.1178T>C, NC_000011.10:g.35208126T>G, XP_011518787.1:p.Ile393Thr, NC_000011.9:g.35229673T>C, XP_005253291.1:p.Ile439Thr, XM_005253235.1:c.1310T>C, NC_000011.9:g.35229673T>G, XM_005253231.2:c.1439T>C, XM_005253232.1:c.1436T>C, 17375486, XP_005253295.1:p.Ile317Thr, XM_005253234.2:c.1316T>C, XM_005253238.1:c.950T>C, XP_011518788.1:p.Ile274Thr, XM_011520486.1:c.821T>C, NP_000601.3:p.Ile479Thr, NP_001001390.1:p.Ile230Thr, XM_006718388.1:c.1433T>C, NM_001001391.1:c.668-6726T>C, 17856114, XM_011520484.1:c.1181T>C, XP_005253298.1:p.Ile230Thr, NM_001202556.1:c.668-11190T>C, rs56467545, XM_005253240.2:c.815T>C, XP_005253288.1:p.Ile480Thr, XP_011518785.1:p.Ile395Thr, XM_005253233.2:c.1319T>C, XP_006718451.1:p.Ile478Thr, NP_000601.3:p.Ile479Arg, XM_011520482.1:c.1439T>C, XP_005253292.1:p.Ile437Thr, 61254354, NM_001001392.1:c.234-13579T>C, XM_011520483.1:c.1184T>C +PA166195105 rs1467967 PA238 MAPT NC_000017.11:45908813 1 0 0 0 0 NG_007398.2:g.19351G>A, 59841287, 116603166, NC_000017.10:g.43986179G>C, NC_000017.11:g.45908813=, NC_000017.10:g.43986179G>A, 117572682, NG_007398.1:g.19383=, NC_000017.10:g.43986179=, NG_007398.2:g.19351=, rs1467967, 1467967, NG_007398.1:g.19383G>A, NG_007398.1:g.19383G>C, NC_000017.11:g.45908813G>C, NG_007398.2:g.19351G>C, NC_000017.11:g.45908813G>A +PA166157298 rs1468412 PA28992 GRM3 NC_000007.14:86804135 3 1 0 0 0 rs10331026, XM_011516090.1:c.1324+17019A>T, XM_005250290.1:c.1324+17019A>T, NC_000007.14:g.86804135A>T, rs17161010, 10480415, NM_000840.2:c.1324+17019A>T, XM_005250286.1:c.1324+17019A>T, XM_011516088.1:c.1324+17019A>T, XM_011516089.1:c.1325-10952A>T, rs1468412, 1468412, rs10480415, 10331026, NC_000007.13:g.86433451=, XM_005250289.1:c.101-34704A>T, 17161010, NC_000007.13:g.86433451A>T, NC_000007.14:g.86804135=, XM_005250287.1:c.940+17019A>T, XM_005250288.1:c.1324+17019A>T +PA166160135 rs1468594 PA38657 GLCCI1 NC_000007.14:8082683 1 0 0 0 0 NC_000007.14:g.8082683=, 61137351, NC_000007.13:g.8122313=, NG_032073.1:g.118940=, NC_000007.14:g.8082683A>C, rs1468594, 1468594, NC_000007.13:g.8122313A>C, 10371145, NG_032073.1:g.118940A>C +PA166165326 rs146898897 NC_000001.11:1582436 1 0 0 0 0 146898897, NC_000001.10:g.1517816C>T, rs146898897, NC_000001.11:g.1582436=, NC_000001.10:g.1517816=, NC_000001.11:g.1582436C>T +PA166208041 rs146991374 PA124 CYP2C19 NC_000010.11:94852736 1 0 0 0 0 NC_000010.11:g.94852736=, NC_000010.10:g.96612493A>T, NC_000010.10:g.96612493=, 146991374, NP_000760.1:p.Lys432=, rs146991374, NG_008384.3:g.95056=, NC_000010.11:g.94852736A>T, NG_008384.3:g.95056A>T, NP_000760.1:p.Lys432Ile +PA166154862 rs1470108 PA162375720,PA164722967 AEN,MIR7-2 NC_000015.10:88610513 1 0 0 0 0 NR_029606.1:n.-1312C>A, 61387505, NC_000015.10:g.88610513C>A, NC_000015.9:g.89153744C>T, NC_000015.10:g.88610513C>T, NC_000015.9:g.89153744C>A, rs386533313, NC_000015.10:g.88610513=, NC_000015.9:g.89153744=, rs1470108, 1470108, 386533313, XM_011521905.1:c.-65+1671C>A, rs61387505 +PA166181026 rs1470383 PA30718 MDM2 NC_000012.12:68813382 1 0 0 0 0 NG_016708.1:g.10192G>A, 1622377, NC_000012.12:g.68813382=, NC_000012.11:g.69207162G>A, 1470383, NC_000012.12:g.68813382G>A, rs1470383, NC_000012.11:g.69207162=, 58476291, NG_016708.1:g.10192= +PA166211542 rs147055479 PA107 CES1 NC_000016.10:55823540 2 0 0 0 0 147055479, NC_000016.10:g.55823540G>C, rs2307244, NC_000016.10:g.55823540=, rs147055479, NG_012057.1:g.14624=, NG_012057.1:g.14624C>T, NC_000016.9:g.55857452=, NC_000016.10:g.55823540G>A, NC_000016.9:g.55857452G>A, NG_012057.1:g.14624C>G, NC_000016.9:g.55857452G>C +PA166156318 rs1470579 PA128394577 IGF2BP2 NC_000003.12:185811292 1 1 0 0 0 NC_000003.12:g.185811292A>C, NM_001007225.1:c.239+11861T>G, XM_011512341.1:c.239+11861T>G, NC_000003.11:g.185529080=, NM_001291875.1:c.-106+9720T>G, NC_000003.12:g.185811292=, NM_001291869.1:c.239+11861T>G, rs56852468, NM_001291872.1:c.50+9720T>G, XR_427358.2:n.318+11861T>G, XM_011512338.1:c.239+11861T>G, XM_005247074.1:c.50+9720T>G, 56852468, 17370449, NG_011602.1:g.18748T>G, XM_011512339.1:c.239+11861T>G, XM_005247075.1:c.50+9720T>G, NM_001291873.1:c.50+9720T>G, XM_005247073.1:c.50+9720T>G, 1470579, rs1470579, NC_000003.11:g.185529080A>C, rs17370449, NM_006548.4:c.239+11861T>G, NG_011602.1:g.18748=, NM_001291874.1:c.50+9720T>G +PA166155558 rs147136339 PA34896 RYR1 NC_000019.10:38543551 6 0 0 0 0 NP_000531.2:p.Tyr3933=, XM_006723319.1:c.11765A>G, XP_011525506.1:p.Tyr3932Cys, NM_000540.2:c.11798A>G, XM_011527204.1:c.11795A>G, XP_006723382.1:p.Tyr3922Cys, NM_001042723.1:c.11783A>G, XP_006723380.1:p.Tyr3927Cys, NC_000019.10:g.38543551=, 147136339, NP_001036188.1:p.Tyr3928Cys, NC_000019.9:g.39034191=, NC_000019.9:g.39034191A>G, XM_006723317.1:c.11780A>G, NP_000531.2:p.Tyr3933Cys, XP_011525507.1:p.Tyr3933Cys, NG_008866.1:g.114852A>G, XM_011527205.1:c.11798A>G, NC_000019.10:g.38543551A>G, NG_008866.1:g.114852=, rs147136339 +PA166170599 rs147204125 PA162375329,PA162390631 ACOT6,HEATR4 NC_000014.9:73609035 1 0 0 0 0 rs147204125, NC_000014.9:g.73609035A>G, NC_000014.8:g.74075739=, NC_000014.8:g.74075739A>G, 147204125, NC_000014.9:g.73609035= +PA166155559 rs147213895 PA34896 RYR1 NC_000019.10:38499241 2 0 0 0 0 XP_011525506.1:p.Asn2341Ser, NC_000019.10:g.38499241=, NP_001036188.1:p.Asn2342Ser, NG_008866.1:g.70542A>G, NP_000531.2:p.Asn2342Ser, NG_008866.1:g.70542=, XM_011527204.1:c.7022A>G, NC_000019.9:g.38989881A>G, NC_000019.9:g.38989881=, NP_000531.2:p.Asn2342=, XM_006723319.1:c.7025A>G, rs147213895, NM_001042723.1:c.7025A>G, XP_006723382.1:p.Asn2342Ser, XP_011525507.1:p.Asn2342Ser, XP_006723380.1:p.Asn2342Ser, XM_006723317.1:c.7025A>G, XM_011527205.1:c.7025A>G, NM_000540.2:c.7025A>G, NC_000019.10:g.38499241A>G, 147213895 +PA166181731 rs147255955 PA124 CYP2C19 NC_000010.11:94762751 3 0 0 0 0 rs147255955, NP_000760.1:p.Leu16Phe, NP_000760.1:p.Leu16=, NC_000010.10:g.96522508=, NC_000010.11:g.94762751=, 147255955, NG_008384.3:g.5071=, NC_000010.11:g.94762751C>T, NC_000010.10:g.96522508C>T, NG_055436.1:g.2111=, NG_055436.1:g.2111C>T, NG_008384.3:g.5071C>T +PA166154760 rs147390019 PA134963132 NUDT15 NC_000013.11:48045720 6 2 2 0 0 rs147390019, NC_000013.10:g.48619856G>A, NP_060753.1:p.Arg139His, NG_047021.1:g.13154=, NG_047021.1:g.13154G>A, NC_000013.11:g.48045720G>A, NP_060753.1:p.Arg139=, NC_000013.10:g.48619856=, 147390019, NM_018283.2:c.416G>A, NC_000013.11:g.48045720= +PA166199721 rs147451859 PA142671157 PPCDC NC_000015.10:75039102 1 1 0 0 0 NC_000015.9:g.75331443=, NC_000015.9:g.75331443C>G, NC_000015.10:g.75039102=, 147451859, NC_000015.10:g.75039102C>G, rs147451859 +PA166208145 rs147453531 PA124 CYP2C19 NC_000010.11:94775498 1 0 0 0 0 NC_000010.10:g.96535255A>G, NC_000010.10:g.96535255=, rs147453531, NP_000760.1:p.Glu147Gly, NC_000010.11:g.94775498=, NG_008384.3:g.17818=, NC_000010.11:g.94775498A>G, 147453531, NG_008384.3:g.17818A>G, NP_000760.1:p.Glu147= +PA166153929 rs147545709 PA145 DPYD NC_000001.11:97098599 1 0 0 1 0 NC_000001.10:g.97564155G>A, XM_005270561.1:c.2545C>T, XM_005270562.1:c.2440C>T, NC_000001.11:g.97098599=, NP_000101.2:p.Arg886Cys, NP_000101.2:p.Arg886=, XP_005270619.1:p.Arg814Cys, NG_008807.2:g.827461=, 147545709, NR_046590.1:n.64+2613G>A, XP_005270619.2:p.Arg814Cys, rs147545709, NM_000110.3:c.2656C>T, NC_000001.11:g.97098599G>A, NC_000001.10:g.97564155=, XP_005270618.1:p.Arg849Cys, NG_008807.2:g.827461C>T, XM_005270562.3:c.2440C>T +PA166153930 rs147601618 PA145 DPYD NC_000001.11:97450168 2 0 0 1 0 NC_000001.10:g.97915724A>G, NG_008807.2:g.475892=, XP_005270620.1:p.Met599Thr, XM_005270561.1:c.1685T>C, XM_005270562.3:c.1580T>C, NC_000001.11:g.97450168A>G, XP_006710460.1:p.Met599Thr, XM_006710397.2:c.1796T>C, NC_000001.10:g.97915724=, XM_005270563.1:c.1796T>C, 147601618, NC_000001.11:g.97450168=, NG_008807.2:g.475892T>C, XM_005270562.1:c.1580T>C, rs147601618, NP_000101.2:p.Met599Thr, NP_000101.2:p.Met599=, XP_005270619.1:p.Met527Thr, XP_005270619.2:p.Met527Thr, NM_000110.3:c.1796T>C, XP_005270618.1:p.Met562Thr +PA166207621 rs147617899 PA126 CYP2C9 NC_000010.11:94947812 1 0 0 0 0 NC_000010.11:g.94947812=, NC_000010.10:g.96707569=, NP_000762.2:p.Cys172Ser, NG_008385.1:g.14155G>C, NC_000010.11:g.94947812G>C, NG_008385.1:g.14155=, rs147617899, NG_008385.2:g.14655=, NP_000762.2:p.Cys172=, NG_008385.2:g.14655G>C, NC_000010.10:g.96707569G>C, 147617899 +PA166153631 rs1476413 PA245 MTHFR NC_000001.11:11792243 1 1 0 0 0 XM_005263461.3:c.1632+35G>A, XM_005263463.1:c.1386+35G>A, rs58018465, XM_005263461.1:c.1632+35G>A, NG_013351.1:g.18861=, XM_005263459.1:c.1701+35G>A, 17367345, NC_000001.10:g.11852300C>T, NG_013351.1:g.18861G>C, NG_013351.1:g.18861G>A, XM_005263458.2:c.1755+35G>A, XM_005263458.1:c.1755+35G>A, XM_005263462.1:c.1632+35G>A, XM_005263462.3:c.1632+35G>A, NC_000001.10:g.11852300C>G, XM_005263463.2:c.1386+35G>A, NC_000001.11:g.11792243=, NM_005957.4:c.1632+35G>A, NC_000001.11:g.11792243C>T, XM_011541495.1:c.1752+35G>A, NC_000001.10:g.11852300=, 58018465, XM_005263460.1:c.1632+35G>A, XM_005263460.3:c.1632+35G>A, 386533606, rs386533606, XM_011541496.1:c.1755+35G>A, 1476413, rs17367345, rs1476413, NC_000001.11:g.11792243C>G +PA166185422 rs1476592 PA33329 PIP5K1C NC_000019.10:3679742 1 1 0 0 0 1476592, NC_000019.10:g.3679742A>G, NG_012161.1:g.25706=, NG_012161.1:g.25706T>C, rs1476592, NG_012161.1:g.25706T>A, NG_012161.2:g.25706T>A, NG_012161.2:g.25706T>C, NC_000019.10:g.3679742A>T, NC_000019.9:g.3679740=, NC_000019.9:g.3679740A>T, NG_012161.2:g.25706=, 59475558, NC_000019.9:g.3679740A>G, NC_000019.10:g.3679742= +PA166160083 rs1476823 PA38657 GLCCI1 NC_000007.14:8020426 1 0 0 0 0 NG_032073.1:g.56683=, 60295707, NC_000007.13:g.8060056C>T, NC_000007.13:g.8060056=, 10368330, rs1476823, 17567704, NC_000007.14:g.8020426=, NG_032073.1:g.56683C>T, NC_000007.14:g.8020426C>T, 1476823 +PA166170038 rs1478486 PA37423 XRCC4 NC_000005.10:83081185 1 0 0 0 0 1478486, NC_000005.9:g.82377004=, rs1478486, NC_000005.9:g.82377004G>A, NG_047086.1:g.8777=, NC_000005.10:g.83081185G>A, 17205655, NC_000005.10:g.83081185=, 61269498, NG_047086.1:g.8777G>A +PA166290041 rs148009906 PA123 CYP2B6 NC_000019.10:41004133 2 0 0 0 0 148009906, NG_007929.1:g.17835G>T, NC_000019.9:g.41510038G>A, NC_000019.10:g.41004133G>T, NC_000019.10:g.41004133=, rs148009906, NP_000758.1:p.Ala102=, NP_000758.1:p.Ala102Thr, NC_000019.9:g.41510038G>T, NC_000019.10:g.41004133G>A, NP_000758.1:p.Ala102Ser, NG_007929.1:g.17835=, NC_000019.9:g.41510038=, NG_007929.1:g.17835G>A +PA166178415 rs148013902 PA134877725 MAST3 NC_000019.10:18137528 1 1 0 0 0 NC_000019.10:g.18137528C>T, rs148013902, 148013902, NC_000019.9:g.18248338C>T, NC_000019.10:g.18137528=, NC_000019.9:g.18248338= +PA166155560 rs148044792 PA27101 CYP2A13 NC_000019.10:41089050 3 0 0 0 0 NC_000019.10:g.41089050G>A, NC_000019.10:g.41089050=, rs148044792, NC_000019.9:g.41594955G>A, 148044792, NC_000019.9:g.41594955=, NM_000766.4:c.302G>A, NP_000757.2:p.Arg101Gln, NP_000757.2:p.Arg101=, NG_007928.1:g.5588=, NG_007928.1:g.5588G>A +PA166156515 rs1481012 PA390 ABCG2 NC_000004.12:88117930 1 0 0 0 0 XM_011532420.1:c.841+179T>C, 56635010, NC_000004.12:g.88117930=, XM_005263355.1:c.841+179T>C, XM_005263354.1:c.841+179T>C, NC_000004.12:g.88117930A>G, rs60335926, XM_005263355.2:c.841+179T>C, 1481012, rs1481012, NM_001257386.1:c.841+179T>C, NC_000004.11:g.89039082=, XM_005263356.2:c.841+179T>C, NG_032067.2:g.118393T>C, XM_005263356.1:c.841+179T>C, rs56635010, XM_005263354.2:c.841+179T>C, 60335926, NC_000004.11:g.89039082A>G, NM_004827.2:c.841+179T>C, NG_032067.2:g.118393= +PA166155561 rs148166815 PA121 CYP2A6 NC_000019.10:40845404 2 1 1 0 0 NP_000753.3:p.Tyr351His, NP_000753.3:p.Tyr351=, 148166815, NM_000762.5:c.1051T>C, XP_005258625.1:p.Tyr300His, rs148166815, XM_005258568.1:c.898T>C, NC_000019.10:g.40845404A>G, NC_000019.10:g.40845404=, NC_000019.9:g.41351309=, NG_008377.1:g.10044=, NG_008377.1:g.10044T>C, NC_000019.9:g.41351309A>G +PA166178403 rs148235907 PA134877725 MAST3 NC_000019.10:18129545 1 1 0 0 0 rs148235907, NC_000019.10:g.18129545G>A, NC_000019.9:g.18240355=, NC_000019.9:g.18240355G>A, NC_000019.10:g.18129545=, 148235907 +PA166208261 rs148247410 PA124 CYP2C19 NC_000010.11:94781931 1 0 0 0 0 rs148247410, NC_000010.11:g.94781931=, NP_000760.1:p.His251=, NC_000010.10:g.96541688=, NC_000010.11:g.94781931C>G, NC_000010.10:g.96541688C>T, NG_008384.3:g.24251C>G, 148247410, NC_000010.11:g.94781931C>T, NC_000010.10:g.96541688C>G, NP_000760.1:p.His251Gln, NG_008384.3:g.24251C>T, NG_008384.3:g.24251= +PA166155562 rs148399313 PA34896 RYR1 NC_000019.10:38543365 1 0 0 0 0 NP_000531.2:p.Arg3903Gln, NG_008866.1:g.114666G>A, XP_006723380.1:p.Arg3897Gln, NC_000019.10:g.38543365G>A, XP_006723382.1:p.Arg3892Gln, NC_000019.9:g.39034005=, NP_001036188.1:p.Arg3898Gln, NP_000531.2:p.Arg3903=, NC_000019.10:g.38543365=, XP_011525507.1:p.Arg3903Gln, NM_001042723.1:c.11693G>A, XM_006723317.1:c.11690G>A, 148399313, NC_000019.9:g.39034005G>A, XM_006723319.1:c.11675G>A, XP_011525506.1:p.Arg3902Gln, XM_011527205.1:c.11708G>A, rs148399313, NG_008866.1:g.114666=, NM_000540.2:c.11708G>A, XM_011527204.1:c.11705G>A +PA166157558 rs1485286 PA36602 TNFRSF11B NC_000008.11:118938429 1 0 0 0 0 NG_012202.1:g.18716G>A, NC_000008.11:g.118938429C>G, NC_000008.10:g.119950668C>T, NM_002546.3:c.31-5129G>A, NG_012202.1:g.18716G>C, rs59129018, 17757648, rs17757648, NG_012202.1:g.18716=, 1485286, NC_000008.11:g.118938429=, NC_000008.10:g.119950668C>G, rs1485286, NC_000008.11:g.118938429C>T, 59129018, NC_000008.10:g.119950668= +PA166157559 rs1485288 PA36602 TNFRSF11B NC_000008.11:118938549 1 0 0 0 0 NM_002546.3:c.31-5249A>G, NG_012202.1:g.18596=, NC_000008.11:g.118938549T>C, NG_012202.1:g.18596A>G, NC_000008.10:g.119950788=, 1485288, rs1485288, NC_000008.10:g.119950788T>C, 11573881, rs11573881, NC_000008.11:g.118938549= +PA166156319 rs1486009 PA27479 DRD3 NC_000003.12:114169685 1 0 0 0 0 NM_001282563.2:c.270+2038T>C, 1486009, NC_000003.11:g.113888532=, NM_000796.5:c.270+2038T>C, XM_005247170.1:c.270+2038T>C, NC_000003.11:g.113888532A>G, XM_011512512.1:c.270+2038T>C, 58868166, XM_005247171.1:c.270+2038T>C, XM_011512511.1:c.270+2038T>C, rs1486009, NM_001290809.1:c.270+2038T>C, rs58868166, NC_000003.12:g.114169685=, NC_000003.12:g.114169685A>G, NG_008842.2:g.34723T>C, NM_033663.5:c.270+2038T>C, XM_011512510.1:c.270+2038T>C, NG_008842.2:g.34723= +PA166207905 rs148615754 PA126 CYP2C9 NC_000010.11:94942282 1 0 0 0 0 NC_000010.10:g.96702039T>A, NG_008385.1:g.8625=, NC_000010.10:g.96702039T>C, NG_008385.1:g.8625T>C, rs148615754, NG_008385.1:g.8625T>A, NC_000010.11:g.94942282T>C, NG_008385.2:g.9125=, NC_000010.11:g.94942282T>A, NP_000762.2:p.Ile141=, NC_000010.11:g.94942282=, NP_000762.2:p.Ile141Asn, 148615754, NP_000762.2:p.Ile141Thr, NC_000010.10:g.96702039=, NG_008385.2:g.9125T>C, NG_008385.2:g.9125T>A +PA166262022 rs148693084 PA121 CYP2A6 NC_000019.10:40846030 1 1 0 0 0 NG_008377.1:g.9418=, 148693084, NC_000019.10:g.40846030A>G, NP_000753.3:p.Ile300=, NC_000019.9:g.41351935=, NC_000019.9:g.41351935A>T, NG_008377.1:g.9418T>C, NG_008377.1:g.9418T>A, NC_000019.10:g.40846030A>T, rs148693084, NP_000753.3:p.Ile300Thr, NC_000019.9:g.41351935A>G, NC_000019.10:g.40846030=, NP_000753.3:p.Ile300Asn +PA166232244 rs1487275 PA128747823 TPH2 NC_000012.12:72016512 1 0 0 0 0 NC_000012.12:g.72016512C>G, NG_008279.1:g.82667C>T, NC_000012.11:g.72410292C>A, 386534075, 58923775, NG_008279.1:g.82667=, NC_000012.11:g.72410292C>G, rs1487275, 1487275, NC_000012.12:g.72016512C>T, NC_000012.11:g.72410292=, NG_008279.1:g.82667C>G, NC_000012.12:g.72016512=, NG_008279.1:g.82667C>A, NC_000012.12:g.72016512C>A, NC_000012.11:g.72410292C>T +PA166154514 rs1487278 PA128747823 TPH2 NC_000012.12:72007071 1 1 0 0 0 NC_000012.12:g.72007071=, 61103738, NC_000012.11:g.72400851=, NG_008279.1:g.73226T>C, NC_000012.12:g.72007071T>C, rs1487278, NM_173353.3:c.1068+12506T>C, 1487278, XM_005268642.1:c.1086+12506T>C, XM_011537899.1:c.474+12506T>C, NG_008279.1:g.73226=, rs61103738, NC_000012.11:g.72400851T>C +PA166156210 rs148769737 PA128 CYP2D6 NC_000022.11:42128217 1 0 0 0 0 NG_008376.3:g.6775C>T, rs148769737, NG_008376.4:g.7594=, XM_011547750.1:c.656C>A, XP_011528270.1:p.Pro267His, XM_011529972.1:c.800C>T, XM_011529968.1:c.800C>T, NC_000022.11:g.42128217G>T, XP_011528270.1:p.Pro267Leu, XP_011546052.1:p.Pro219His, NG_008376.3:g.6775C>G, NW_004504305.1:g.50544G>T, XP_011528274.1:p.Pro267His, NC_000022.10:g.42524219=, XM_011547751.1:c.584C>T, XP_011545843.1:p.Pro167Leu, NG_008376.3:g.6775C>A, NW_009646208.1:g.13783G>T, XP_005278410.1:p.Pro219His, XP_011528274.1:p.Pro267Leu, XP_011545843.1:p.Pro167His, XP_011546052.1:p.Pro219Leu, XM_011529971.1:c.656C>T, NG_008376.4:g.7594C>T, NT_187682.1:g.50558G>A, XM_011529968.1:c.800C>A, NG_008376.4:g.7594C>G, NW_009646208.1:g.13783G>A, NP_000097.3:p.Pro267Leu, XP_005278411.1:p.Pro167Leu, XM_011548819.1:c.500C>A, NM_000106.5:c.800C>T, NP_000097.3:p.Pro267His, NT_187682.1:g.50558G>T, NP_000097.3:p.Pro267=, NG_008376.4:g.7594C>A, XM_011529971.1:c.656C>A, XM_011547541.1:c.500C>T, XP_011528273.1:p.Pro219His, NM_000106.5:c.800C>A, XP_005278411.1:p.Pro167His, XP_011528273.1:p.Pro219Leu, 148769737, NW_004504305.1:g.50544G>A, XM_011548819.1:c.500C>T, XM_011529966.1:c.800C>A, XR_430455.2:n.-1654G>T, NC_000022.10:g.42524219G>A, XP_011547121.1:p.Pro167His, NC_000022.10:g.42524219G>C, XP_011528269.1:p.Pro267His, XM_005278354.1:c.500C>T, XM_011547756.1:c.-1818G>T, XM_011529967.1:c.800C>A, XM_011529969.1:c.656C>A, NC_000022.11:g.42128217=, XM_011529966.1:c.800C>T, XP_011546053.1:p.Pro195Leu, NC_000022.10:g.42524219G>T, XM_011547756.1:c.-1818G>A, XP_011528268.1:p.Pro267His, XM_011547541.1:c.500C>A, XM_011529969.1:c.656C>T, NG_008376.3:g.6775=, XR_430455.2:n.-1654G>A, XM_011529967.1:c.800C>T, XM_011529970.1:c.647C>T, XM_005278354.1:c.500C>A, XP_011528268.1:p.Pro267Leu, NC_000022.11:g.42128217G>A, NP_000097.3:p.Pro267Arg, NP_001020332.2:p.Pro216Leu, XP_011528271.1:p.Pro219His, NM_001025161.2:c.647C>A, XM_011529970.1:c.647C>A, XP_011528272.1:p.Pro216His, XP_011546053.1:p.Pro195His, XM_005278353.1:c.656C>A, XR_952745.1:n.1957C>A, XM_011547751.1:c.584C>A, XM_005278354.3:c.500C>A, XP_005278410.1:p.Pro219Leu, XM_011547750.1:c.656C>T, XM_005278354.3:c.500C>T, XM_005278353.1:c.656C>T, XP_011528269.1:p.Pro267Leu, XR_952745.1:n.1957C>T, XP_011528271.1:p.Pro219Leu, NC_000022.11:g.42128217G>C, NM_001025161.2:c.647C>T, NP_001020332.2:p.Pro216His, XP_011547121.1:p.Pro167Leu, XM_011529972.1:c.800C>A, XP_011528272.1:p.Pro216Leu +PA166159802 rs148799944 PA145 DPYD NC_000001.11:97078993 1 0 0 1 0 NC_000001.11:g.97078993C>G, NC_000001.11:g.97078993=, NC_000001.10:g.97544549=, rs148799944, NP_000101.2:p.Val1021=, NG_008807.2:g.847067=, NG_008807.2:g.847067G>C, 148799944, NC_000001.10:g.97544549C>G, NP_000101.2:p.Val1021Leu +PA166171201 rs148947800 NC_000008.11:120946486 1 0 0 0 0 rs148947800, NC_000008.10:g.121958726C>A, NC_000008.11:g.120946486C>T, NC_000008.11:g.120946486=, NC_000008.11:g.120946486C>A, NC_000008.10:g.121958726C>T, 148947800, NC_000008.10:g.121958726= +PA166159784 rs148994843 PA145 DPYD NC_000001.11:97515923 2 1 0 1 0 NG_008807.2:g.410137G>A, NC_000001.11:g.97515923=, NC_000001.10:g.97981479=, NC_000001.10:g.97981479C>T, NP_000101.2:p.Val515=, NC_000001.11:g.97515923C>T, 148994843, NP_000101.2:p.Val515Ile, NG_008807.2:g.410137=, rs148994843 +PA166208026 rs149072229 PA124 CYP2C19 NC_000010.11:94775130 1 0 0 0 0 NG_008384.3:g.17450=, NG_008384.3:g.17450G>A, NC_000010.11:g.94775130=, NP_000760.1:p.Glu81=, NC_000010.11:g.94775130G>A, NC_000010.10:g.96534887=, NP_000760.1:p.Glu81Lys, 149072229, rs149072229, NC_000010.10:g.96534887G>A +PA166162391 rs149104283 NC_000012.12:20930928 1 1 0 0 0 NC_000012.11:g.21083862C>T, rs149104283, NC_000012.11:g.21083862C>G, NC_000012.12:g.20930928C>T, 386471664, NC_000012.11:g.21083862=, NC_000012.12:g.20930928C>G, NC_000012.12:g.20930928=, 149104283 +PA166307422 rs149106245 PA390 ABCG2 NC_000004.12:88131209 1 0 0 0 0 NC_000004.12:g.88131209T>A, NG_032067.2:g.105114=, NC_000004.11:g.89052361T>A, NP_004818.2:p.Asp128=, 149106245, NC_000004.11:g.89052361=, NG_032067.2:g.105114A>T, NP_004818.2:p.Asp128Val, rs149106245, NC_000004.12:g.88131209= +PA166186017 rs149158426 PA126 CYP2C9 NC_000010.11:94949266 3 0 0 0 0 NC_000010.11:g.94949266=, NC_000010.10:g.96709023C>T, NC_000010.10:g.96709023=, NG_008385.1:g.15609=, 149158426, NC_000010.11:g.94949266C>T, NG_008385.2:g.16109C>T, rs149158426, NP_000762.2:p.Phe267=, NG_008385.1:g.15609C>T, NG_008385.2:g.16109= +PA166154329 rs1491850 PA31891 BDNF NC_000011.10:27728178 2 1 0 0 0 rs17309937, 17309937, NC_000011.10:g.27728178T>C, rs59753623, NC_000011.10:g.27728178=, 59753623, NC_000011.9:g.27749725T>C, NC_000011.9:g.27749725=, rs1491850, 1491850 +PA166162315 rs1491974 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151384664 1 0 0 0 0 17204494, NG_021244.1:g.302777A>G, NG_021244.1:g.302777=, NC_000003.11:g.151102452=, NC_000003.12:g.151384664A>G, NC_000003.12:g.151384664=, NG_016019.1:g.5093=, NC_000003.11:g.151102452A>G, NG_016019.1:g.5093T>A, NG_016019.1:g.5093T>C, 56764906, rs1491974, NG_021244.1:g.302777A>T, 61065760, NC_000003.11:g.151102452A>T, NC_000003.12:g.151384664A>T, 1491974 +PA166178426 rs149212925 PA28034 FBXO21 NC_000012.12:117191508 2 1 0 0 0 NC_000012.12:g.117191508=, NC_000012.11:g.117629313=, NC_000012.11:g.117629313A>G, rs149212925, NC_000012.12:g.117191508A>G, 149212925 +PA166395081 rs149279509 PA109 CFTR NC_000007.14:117610571 0 0 0 0 1 NP_000483.3:p.Tyr1014Cys, NG_056128.2:g.3625A>G, NG_016465.4:g.149788=, NG_056128.2:g.3625=, NG_016465.4:g.149788A>G, NP_000483.3:p.Tyr1014=, rs149279509, NC_000007.14:g.117610571A>G, NC_000007.13:g.117250625=, 149279509, NC_000007.14:g.117610571=, NC_000007.13:g.117250625A>G +PA166153632 rs1492899 NC_000001.11:172646255 1 0 0 0 0 NC_000001.11:g.172646255=, NC_000001.10:g.172615395=, rs1492899, 1492899, NC_000001.10:g.172615395C>T, 57968838, rs57968838, 17279336, NC_000001.11:g.172646255C>T, rs17279336 +PA166232861 rs149389480 PA159 F5 NC_000001.11:169542338 1 0 0 0 0 NG_011806.1:g.49194C>T, NC_000001.11:g.169542338G>A, rs149389480, NC_000001.11:g.169542338=, NC_000001.10:g.169511576=, NC_000001.10:g.169511576G>A, NP_000121.2:p.Pro918Ser, NG_011806.1:g.49194=, 149389480, NP_000121.2:p.Pro918= +PA166156516 rs1495509 PA134893552 KCNIP4 NC_000004.12:21391993 2 1 0 0 0 NC_000004.11:g.21393616T>C, rs57812303, NC_000004.12:g.21391993=, NC_000004.11:g.21393616=, XM_011513888.1:c.-24+370928A>G, NM_025221.5:c.62-509284A>G, NM_001035004.1:c.-24+152397A>G, XM_005248191.1:c.62-541326A>G, XM_011513882.1:c.62-509284A>G, NM_001035003.1:c.88+305357A>G, XM_011513885.1:c.88+305357A>G, XM_011513886.1:c.62-541326A>G, XM_011513887.1:c.-24+152397A>G, 57812303, NG_052969.1:g.561759=, NG_052969.1:g.561759A>G, rs1495509, 1495509, NC_000004.12:g.21391993T>C, NM_147181.3:c.62-541326A>G, NM_147182.3:c.-24+370928A>G +PA166157560 rs1495741 NC_000008.11:18415371 6 1 0 0 0 NC_000008.11:g.18415371G>A, rs57451543, 57451543, NC_000008.10:g.18272881=, NC_000008.11:g.18415371=, NC_000008.10:g.18272881G>A, 1495741, rs1495741 +PA166208025 rs149590953 PA124 CYP2C19 NC_000010.11:94775452 1 0 0 0 0 NC_000010.10:g.96535209=, NP_000760.1:p.Arg132=, 149590953, NC_000010.11:g.94775452C>A, NG_008384.3:g.17772C>T, NC_000010.10:g.96535209C>T, NP_000760.1:p.Arg132Trp, NC_000010.11:g.94775452C>T, NG_008384.3:g.17772C>A, NG_008384.3:g.17772=, NC_000010.11:g.94775452=, rs149590953, NC_000010.10:g.96535209C>A +PA166156212 rs149711321 PA280 PPARA NC_000022.11:46198138 1 1 0 0 0 XM_011530245.1:c.-448-204T>C, NG_012204.1:g.52537=, rs149711321, NG_012204.1:g.52537T>C, NM_001001928.2:c.-42-204T>C, XM_005261655.2:c.-42-204T>C, 149711321, XM_011530240.1:c.-42-204T>C, NG_012204.2:g.52605=, XR_937869.1:n.274-204T>C, NC_000022.11:g.46198138T>C, XM_006724269.2:c.-39-207T>C, XM_005261657.1:c.-42-204T>C, XM_005261654.1:c.-39-207T>C, XM_011530241.1:c.-39-207T>C, NC_000022.11:g.46198138=, XM_005261658.1:c.-39-207T>C, NG_012204.2:g.52605T>C, XM_011530243.1:c.-42-204T>C, XR_937870.1:n.273-204T>C, NM_005036.4:c.-42-204T>C, XM_011530244.1:c.-448-204T>C, XM_005261653.1:c.-42-204T>C, XM_011530242.1:c.-42-204T>C, XR_244379.1:n.182-204T>C, XM_006724270.2:c.-39-207T>C, NC_000022.10:g.46594035T>C, XM_005261656.1:c.-39-207T>C, XM_005261655.1:c.-42-204T>C, XM_005261656.2:c.-39-207T>C, XM_011530239.1:c.-39-207T>C, NC_000022.10:g.46594035= +PA166170444 rs149713212 PA134912083 PPM1K NC_000004.12:88268450 1 0 0 0 0 NC_000004.11:g.89189602=, NC_000004.12:g.88268450=, NC_000004.12:g.88268450G>A, NG_032931.1:g.21382C>T, rs149713212, NC_000004.11:g.89189602G>A, 149713212, NG_032931.1:g.21382= +PA166177708 rs1500 PA26873 CRHBP NC_000005.10:76981013 1 0 0 0 0 rs1500, NC_000005.10:g.76981013=, NC_000005.9:g.76276838=, 1500, 52807303, NC_000005.9:g.76276838G>C, NC_000005.9:g.76276838G>A, 57470607, NC_000005.10:g.76981013G>C, NC_000005.10:g.76981013G>A +PA166159767 rs150036960 PA145 DPYD NC_000001.11:97883368 1 0 0 1 0 rs150036960, NC_000001.11:g.97883368G>C, NP_000101.2:p.Leu16Val, NG_008807.2:g.42692C>G, NC_000001.10:g.98348924=, NP_000101.2:p.Leu16=, NC_000001.11:g.97883368=, NC_000001.10:g.98348924G>C, NG_008807.2:g.42692=, 150036960 +PA166208262 rs150045105 PA124 CYP2C19 NC_000010.11:94775079 1 0 0 0 0 150045105, NP_000760.1:p.Val64=, NC_000010.11:g.94775079=, rs150045105, NC_000010.11:g.94775079G>A, NP_000760.1:p.Val64Met, NC_000010.10:g.96534836G>A, NG_008384.3:g.17399G>A, NG_008384.3:g.17399=, NC_000010.10:g.96534836= +PA166156320 rs1501299 PA134933118 ADIPOQ NC_000003.12:186853334 1 0 0 0 0 NG_021140.1:g.15661=, NR_046662.1:n.2087-92C>A, XM_011513324.1:c.214+62G>T, NG_021140.1:g.15661G>T, NC_000003.11:g.186571123G>C, NM_001177800.1:c.214+62G>T, NC_000003.12:g.186853334=, NC_000003.11:g.186571123=, NM_004797.3:c.214+62G>T, 61322123, NC_000003.12:g.186853334G>T, rs17846868, 1501299, rs1501299, rs386534657, 17846868, NC_000003.11:g.186571123G>T, NG_021140.1:g.15661G>C, rs61322123, NC_000003.12:g.186853334G>C, 386534657 +PA166181739 rs150152656 PA124 CYP2C19 NC_000010.11:94775447 3 0 0 0 0 NC_000010.10:g.96535204C>A, NP_000760.1:p.Thr130Lys, rs150152656, NC_000010.11:g.94775447C>A, NG_008384.3:g.17767C>T, NP_000760.1:p.Thr130=, NC_000010.11:g.94775447C>T, NP_000760.1:p.Thr130Met, NG_008384.3:g.17767=, NC_000010.10:g.96535204C>T, NG_008384.3:g.17767C>A, 150152656, NC_000010.10:g.96535204=, NC_000010.11:g.94775447= +PA166394982 rs150157202 PA109 CFTR NC_000007.14:117592427 0 0 0 0 2 NP_000483.3:p.Val754Leu, NP_000483.3:p.Val754Met, NC_000007.14:g.117592427=, NC_000007.13:g.117232481G>A, NG_016465.4:g.131644=, NP_000483.3:p.Val754=, NC_000007.14:g.117592427G>A, 150157202, NG_016465.4:g.131644G>T, NC_000007.14:g.117592427G>T, rs150157202, NC_000007.13:g.117232481G>T, NC_000007.13:g.117232481=, NG_016465.4:g.131644G>A +PA166156213 rs150163869 PA128 CYP2D6 NC_000022.11:42128813 2 0 0 0 0 NG_008376.3:g.6179C>T, NM_000106.5:c.637C>T, NT_187682.1:g.51154G>A, XM_011529970.1:c.484C>T, XP_011547121.1:p.Leu113=, 150163869, XM_011547541.1:c.337C>T, XM_011529966.1:c.637C>T, XP_005278410.1:p.Leu165=, XP_011528271.1:p.Leu165=, XP_005278411.1:p.Leu113=, NC_000022.10:g.42524815G>A, NP_000097.3:p.Leu213=, XM_011548819.1:c.337C>T, XP_011546053.1:p.Leu141=, NC_000022.10:g.42524815=, XM_005278354.3:c.337C>T, XM_011529969.1:c.493C>T, XM_011547751.1:c.421C>T, XP_011546052.1:p.Leu165=, XM_011529971.1:c.493C>T, XP_011528273.1:p.Leu165=, rs150163869, XM_005278354.1:c.337C>T, XP_011528274.1:p.Leu213=, NP_001020332.2:p.Leu162=, NW_004504305.1:g.51140G>A, XP_011528270.1:p.Leu213=, XP_011545843.1:p.Leu113=, NC_000022.11:g.42128813G>A, NW_009646208.1:g.14379G>A, XP_011528268.1:p.Leu213=, XR_430455.2:n.-1058G>A, XM_011529968.1:c.637C>T, XM_011547750.1:c.493C>T, XP_011528269.1:p.Leu213=, NC_000022.11:g.42128813=, XM_011529972.1:c.637C>T, XM_005278353.1:c.493C>T, NG_008376.4:g.6998C>T, XP_011528272.1:p.Leu162=, NM_001025161.2:c.484C>T, XM_011547756.1:c.-1222G>A, XM_011529967.1:c.637C>T, XR_952745.1:n.1794C>T, NG_008376.4:g.6998= +PA166164951 rs150212784 PA109 CFTR NC_000007.14:117611595 1 1 0 1 3 NG_056128.1:g.4649=, NG_016465.4:g.150812=, NP_000483.3:p.Phe1052=, NC_000007.13:g.117251649T>G, NG_056128.1:g.4649T>C, NP_000483.3:p.Phe1052Leu, NC_000007.14:g.117611595T>C, 150212784, NG_056128.2:g.4649T>G, NP_000483.3:p.Phe1052Val, NG_016465.4:g.150812T>G, NC_000007.13:g.117251649=, NG_056128.1:g.4649T>G, NG_056128.2:g.4649=, NC_000007.14:g.117611595T>G, NG_056128.2:g.4649T>C, NG_016465.4:g.150812T>C, NC_000007.13:g.117251649T>C, NC_000007.14:g.117611595=, rs150212784 +PA166262101 rs150247689 PA121 CYP2A6 NC_000019.10:40845439 1 0 0 0 0 NC_000019.9:g.41351344=, NC_000019.9:g.41351344C>T, NG_008377.1:g.10009G>A, 150247689, NG_008377.1:g.10009G>C, NP_000753.3:p.Arg339=, rs150247689, NC_000019.10:g.40845439C>G, NC_000019.9:g.41351344C>G, NP_000753.3:p.Arg339Gln, NC_000019.10:g.40845439=, NC_000019.10:g.40845439C>T, NG_008377.1:g.10009=, NP_000753.3:p.Arg339Pro +PA166154330 rs1503391 PA164717628 CARD16 NC_000011.10:105041731 1 0 0 0 0 NM_052889.2:c.*44-12T>G, 58077813, NM_001017534.1:c.275-12T>G, rs1792772, 1792772, NC_000011.9:g.104912458=, XM_011542583.1:c.479-12T>G, NC_000011.9:g.104912458A>C, rs58077813, NC_000011.10:g.105041731=, 1503391, rs1503391, NC_000011.10:g.105041731A>C +PA166159768 rs150385342 PA145 DPYD NC_000001.11:97740400 1 0 0 1 0 rs150385342, NC_000001.11:g.97740400=, NC_000001.10:g.98205956=, NG_008807.2:g.185660=, NP_000101.2:p.Ala105=, NC_000001.11:g.97740400C>A, NC_000001.10:g.98205956C>T, NG_008807.2:g.185660G>A, NC_000001.11:g.97740400C>T, NC_000001.10:g.98205956C>A, NP_000101.2:p.Ala105Ser, NG_008807.2:g.185660G>T, 150385342, NP_000101.2:p.Ala105Thr +PA166207723 rs150435881 PA126 CYP2C9 NC_000010.11:94947853 1 0 0 0 0 NP_000762.2:p.Arg186Ser, 150435881, NP_000762.2:p.Arg186Cys, NC_000010.10:g.96707610=, NG_008385.1:g.14196=, NC_000010.11:g.94947853=, NG_008385.2:g.14696C>T, NC_000010.10:g.96707610C>T, NP_000762.2:p.Arg186=, NG_008385.2:g.14696=, NC_000010.11:g.94947853C>A, NG_008385.1:g.14196C>A, NC_000010.11:g.94947853C>T, NC_000010.10:g.96707610C>A, NG_008385.1:g.14196C>T, NG_008385.2:g.14696C>A, rs150435881 +PA166159772 rs150437414 PA145 DPYD NC_000001.11:97595088 1 0 0 1 0 NG_008807.2:g.330972T>C, NC_000001.10:g.98060644=, NC_000001.10:g.98060644A>G, NC_000001.11:g.97595088A>G, NG_008807.2:g.330972=, rs150437414, NC_000001.11:g.97595088=, NP_000101.2:p.Leu310=, NP_000101.2:p.Leu310Ser, 150437414 +PA166207503 rs150663116 PA126 CYP2C9 NC_000010.11:94981309 1 0 0 0 0 rs150663116, NC_000010.10:g.96741066=, NG_008385.2:g.48152=, NG_008385.2:g.48152C>T, NC_000010.11:g.94981309C>A, NC_000010.10:g.96741066C>T, NP_000762.2:p.Pro363His, NG_008385.1:g.47652=, NG_008385.1:g.47652C>A, NP_000762.2:p.Pro363=, NG_008385.1:g.47652C>T, NG_008385.2:g.48152C>A, NC_000010.11:g.94981309C>T, 150663116, NP_000762.2:p.Pro363Leu, NC_000010.11:g.94981309=, NC_000010.10:g.96741066C>A +PA166178399 rs150688309 PA134877725 MAST3 NC_000019.10:18131482 1 1 0 0 0 NC_000019.9:g.18242292=, 150688309, NC_000019.10:g.18131482=, NC_000019.9:g.18242292C>G, rs150688309, NC_000019.10:g.18131482C>G +PA166157230 rs150900439 PA356 TPMT NC_000006.12:18130694 2 1 1 0 0 NP_000358.1:p.Lys238Glu, NC_000006.11:g.18130925=, NP_000358.1:p.Lys238=, XP_011513141.1:p.Lys223Glu, NG_012137.2:g.29450=, 150900439, XM_011514840.1:c.643A>G, NC_000006.12:g.18130694=, NM_000367.3:c.712A>G, NC_000006.11:g.18130925T>C, NC_000006.12:g.18130694T>C, XM_011514839.1:c.667A>G, NG_012137.2:g.29450A>G, rs150900439, XP_011513142.1:p.Lys215Glu +PA166154985 rs150929 PA24378 ABCA3 NC_000016.10:2278649 1 0 0 0 0 XM_005255168.1:c.4374-191C>A, NC_000016.10:g.2278649G>A, NC_000016.9:g.2328650=, NC_000016.9:g.2328650G>T, rs150929, NC_000016.10:g.2278649G>C, NG_011790.1:g.67098C>A, 150929, NG_011790.1:g.67098C>G, NM_001089.2:c.4548-191C>A, NC_000016.9:g.2328650G>C, NG_011790.1:g.67098C>T, NC_000016.10:g.2278649=, NG_011790.1:g.67098=, XM_005255169.1:c.3261-191C>A, NC_000016.10:g.2278649G>T, NC_000016.9:g.2328650G>A +PA166178056 rs151020603 PA109 CFTR NC_000007.14:117504336 1 0 0 0 0 NC_000007.13:g.117144390C>A, NG_016465.4:g.43553C>T, NP_000483.3:p.Ala46Val, rs151020603, NC_000007.14:g.117504336C>T, 151020603, NG_016465.4:g.43553C>A, NC_000007.13:g.117144390=, NC_000007.14:g.117504336=, NP_000483.3:p.Ala46=, NC_000007.13:g.117144390C>T, NG_016465.4:g.43553=, NC_000007.14:g.117504336C>A, NP_000483.3:p.Ala46Asp +PA166394961 rs151048781 PA109 CFTR NC_000007.14:117603730 0 0 0 0 1 151048781, NC_000007.14:g.117603730G>A, NC_000007.14:g.117603730G>C, NG_016465.4:g.142947G>T, NC_000007.13:g.117243784G>T, NG_016465.4:g.142947=, NP_000483.3:p.Met952=, NC_000007.13:g.117243784=, NC_000007.13:g.117243784G>A, NG_016465.4:g.142947G>C, NC_000007.14:g.117603730G>T, rs151048781, NC_000007.14:g.117603730=, NC_000007.13:g.117243784G>C, NP_000483.3:p.Met952Ile, NG_016465.4:g.142947G>A +PA166320030 rs151074666 PA145 DPYD NC_000001.11:97079056 1 0 0 0 0 NC_000001.10:g.97544612=, NC_000001.10:g.97544612C>T, rs151074666, NC_000001.11:g.97079056=, 151074666, NG_008807.2:g.847004G>A, NP_000101.2:p.Asp1000=, NP_000101.2:p.Asp1000Asn, NG_008807.2:g.847004=, NC_000001.11:g.97079056C>T +PA166157231 rs151149760 PA356 TPMT NC_000006.12:18143606 10 2 2 0 0 NC_000006.11:g.18143837T>G, NC_000006.12:g.18143606T>G, NP_000358.1:p.Lys119=, NP_000358.1:p.Lys119Thr, NC_000006.11:g.18143837=, XM_011514840.1:c.287A>C, XM_011514839.1:c.356A>C, NC_000006.12:g.18143606=, NM_000367.3:c.356A>C, XP_011513141.1:p.Lys119Thr, NG_012137.2:g.16538A>C, rs151149760, XP_011513142.1:p.Lys96Thr, 151149760, NG_012137.2:g.16538= +PA166171196 rs151291296 PA107 CES1 NC_000016.10:55828905 2 0 0 0 0 151291296, NC_000016.10:g.55828905A>G, NC_000016.10:g.55828905A>C, NP_001257.4:p.Leu40=, NG_012057.1:g.9259=, NG_012057.1:g.9259T>C, NC_000016.9:g.55862817A>C, NP_001257.4:p.Leu40Ter, NC_000016.9:g.55862817=, NC_000016.9:g.55862817A>G, NP_001257.4:p.Leu40Ser, NC_000016.10:g.55828905=, rs151291296, NG_012057.1:g.9259T>G +PA166195114 rs151337 PA25128 ATP5F1E NC_000020.11:59027736 1 0 0 0 0 61005495, NC_000020.10:g.57602791T>C, NG_023424.2:g.13483=, NC_000020.10:g.57602791T>A, 61131597, NG_031871.1:g.9632A>G, NG_023424.2:g.13483T>A, NG_031871.2:g.9632A>G, NG_023424.2:g.13483T>C, NC_000020.11:g.59027736T>C, NC_000020.11:g.59027736T>A, 151337, NG_031871.1:g.9632A>T, NG_031871.2:g.9632=, rs151337, NC_000020.11:g.59027736=, NC_000020.10:g.57602791=, NG_031871.1:g.9632=, NG_031871.2:g.9632A>T +PA166195115 rs151349 PA38100 TUBB1 NC_000020.11:59014711 1 0 0 0 0 NC_000020.11:g.59014711T>A, NC_000020.11:g.59014711T>C, NC_000020.10:g.57589766=, NG_023424.2:g.458=, NC_000020.11:g.59014711T>G, NG_023424.2:g.458T>C, NC_000020.10:g.57589766T>G, 151349, NC_000020.10:g.57589766T>A, NC_000020.10:g.57589766T>C, NG_023424.2:g.458T>A, NC_000020.11:g.59014711=, NG_023424.2:g.458T>G, rs151349 +PA166277101 rs151352 PA25128,PA38100 ATP5F1E,TUBB1 NC_000020.11:59026940 1 0 0 0 0 NG_023424.2:g.12687=, NC_000020.11:g.59026940A>T, NG_023424.2:g.12687A>T, NC_000020.11:g.59026940=, NC_000020.10:g.57601995A>G, NC_000020.10:g.57601995=, NG_031871.2:g.10428T>A, NG_031871.2:g.10428T>C, NC_000020.10:g.57601995A>T, rs151352, 59036549, 151352, NG_031871.2:g.10428=, NG_023424.2:g.12687A>G, NC_000020.11:g.59026940A>G +PA166264721 rs1513559 NC_000004.12:68789837 1 0 0 0 0 NC_000004.12:g.68789837=, NC_000004.11:g.69655555A>G, NC_000004.11:g.69655555A>T, 116844585, NC_000004.12:g.68789837A>T, 114664732, 61324149, NC_000004.12:g.68789837A>G, NC_000004.11:g.69655555=, rs1513559, 1513559 +PA166156321 rs1516338 PA26470 CHL1 NC_000003.12:195076 1 0 0 0 0 rs1516338, NM_006614.3:c.-2162C>T, 1516338, NM_001253387.1:c.-2162C>T, NC_000003.11:g.236759C>G, NC_000003.12:g.195076=, NC_000003.12:g.195076C>G, XM_006712939.2:c.-2082C>T, 60396552, NC_000003.11:g.236759C>T, NC_000003.12:g.195076C>T, NC_000003.11:g.236759=, rs60396552 +PA166154863 rs1516400 PA24927 AQP9 NC_000015.10:58137065 1 0 0 0 0 58441942, NC_000015.10:g.58137065G>C, rs1516400, NC_000015.10:g.58137065G>A, 1516400, NG_011975.2:g.3857=, NG_011975.2:g.3857G>T, NC_000015.9:g.58429264=, NC_000015.9:g.58429264G>T, NC_000015.10:g.58137065G>T, NC_000015.10:g.58137065=, rs58441942, NM_020980.3:c.-1501G>A, NG_011975.2:g.3857G>C, NC_000015.9:g.58429264G>A, NG_011975.1:g.3857G>A, XM_005254347.1:c.-1301G>A, NC_000015.9:g.58429264G>C, NG_011975.2:g.3857G>A +PA166157561 rs1517114 PA142672353 C8orf34 NC_000008.11:68476982 1 1 0 0 0 NM_052958.2:c.736+8162C>G, XR_928756.1:n.794+8162C>G, 1517114, rs1517114, NC_000008.10:g.69389217C>T, NM_001195639.1:c.736+8162C>G, NC_000008.11:g.68476982=, NC_000008.11:g.68476982C>T, 4292667, NG_055258.1:g.151261C>T, XM_011517447.1:c.736+8162C>G, NC_000008.11:g.68476982C>G, 61127031, XM_011517446.1:c.736+8162C>G, XM_011517450.1:c.736+8162C>G, NC_000008.11:g.68476982C>A, NG_055258.1:g.151261C>A, XM_005251149.1:c.736+8162C>G, XM_011517448.1:c.608-11041C>G, XM_011517449.1:c.736+8162C>G, rs4292667, rs61127031, NG_055258.1:g.151261C>G, XM_011517452.1:c.736+8162C>G, NG_055258.1:g.151261=, NC_000008.10:g.69389217C>G, XM_011517445.1:c.736+8162C>G, NC_000008.10:g.69389217=, NC_000008.10:g.69389217C>A +PA166154864 rs1517618 PA35837 SLCO3A1 NC_000015.10:92104415 1 0 0 0 0 XM_005254889.1:c.882G>C, XP_005254948.1:p.Glu179Asp, XM_011521456.1:c.708G>C, XR_429450.2:n.802G>C, rs17844850, NC_000015.9:g.92647645=, NC_000015.9:g.92647645G>A, NM_001145044.1:c.882G>C, NC_000015.9:g.92647645G>C, XP_011519759.1:p.Glu294Asp, XR_931795.1:n.972G>C, NC_000015.10:g.92104415=, XM_005254891.1:c.537G>C, 17844850, rs17857564, rs60307785, XP_011519758.1:p.Glu236Asp, 52834221, 17857564, 60307785, rs1517618, 1517618, XP_005254946.1:p.Glu294Asp, XP_005254947.1:p.Glu236Asp, XR_931796.1:n.972G>C, NP_037404.2:p.Glu294Asp, rs52834221, NP_001138516.1:p.Glu294Asp, NP_037404.2:p.Glu294=, XM_005254890.1:c.708G>C, NC_000015.10:g.92104415G>C, NC_000015.10:g.92104415G>A, XM_011521457.1:c.882G>C, rs17519193, 17519193, NM_013272.3:c.882G>C +PA166159124 rs1519483 NC_000002.12:221657150 1 0 0 0 0 NC_000002.11:g.222521870=, NC_000002.12:g.221657150=, 56962581, 386495732, 1519483, rs1519483, NC_000002.11:g.222521870C>T, NC_000002.12:g.221657150C>T +PA166162356 rs152023 PA244 ABCC1 NC_000016.10:15991379 1 0 0 0 0 NG_028268.1:g.46803C>T, NC_000016.9:g.16085236C>T, 56908310, NC_000016.10:g.15991379=, NG_028268.2:g.46803C>T, rs152023, NG_028268.1:g.46803=, 248413, NC_000016.10:g.15991379C>T, 152023, NC_000016.9:g.16085236=, NG_028268.2:g.46803= +PA166171050 rs1521470 PA24560 ADCY1 NC_000007.14:45607253 1 1 0 0 0 NC_000007.14:g.45607253=, NC_000007.14:g.45607253A>T, NC_000007.13:g.45646852A>C, NG_034198.1:g.38114A>G, 17183699, NC_000007.13:g.45646852A>G, NG_034198.1:g.38114A>C, NC_000007.14:g.45607253A>C, NC_000007.13:g.45646852=, 58449533, rs1521470, 1521470, NC_000007.14:g.45607253A>G, NC_000007.13:g.45646852A>T, 10341875, NG_034198.1:g.38114=, NG_034198.1:g.38114A>T, 12702155 +PA166156517 rs1522113 PA26609 CLOCK NC_000004.12:55465604 1 1 0 0 0 NM_001267843.1:c.439-1799C>T, XM_011534409.1:c.439-1799C>T, XM_011534410.1:c.439-1799C>T, XM_005265787.1:c.439-1799C>T, rs61462227, XM_011534411.1:c.439-1799C>T, NC_000004.12:g.55465604=, XM_006714054.2:c.439-1799C>T, NC_000004.11:g.56331771=, rs1522113, NC_000004.11:g.56331771G>A, 1522113, NM_004898.3:c.439-1799C>T, NC_000004.12:g.55465604G>A, 61462227 +PA166156322 rs1523127 PA378 NR1I2 NC_000003.12:119782192 3 0 0 0 0 NC_000003.11:g.119501039C>A, NG_011856.1:g.6709C>A, NG_011856.1:g.6709=, NM_022002.2:c.-566C>A, 58645792, rs1523127, 1523127, NC_000003.12:g.119782192C>A, NC_000003.11:g.119501039=, rs58645792, NM_003889.3:c.-131C>A, XM_005247866.1:c.-296C>A, NM_033013.2:c.-131C>A, NC_000003.12:g.119782192= +PA166156323 rs1523130 PA378 NR1I2 NC_000003.12:119780660 9 2 0 0 0 NC_000003.11:g.119499507=, NG_011856.1:g.5177=, NM_033013.2:c.-1663T>C, NM_003889.3:c.-1663T>C, XM_005247866.1:c.-1828T>C, NC_000003.12:g.119780660T>C, rs1523130, 1523130, NC_000003.12:g.119780660T>A, 61314694, NC_000003.12:g.119780660=, rs118196528, rs61314694, NG_011856.1:g.5177T>C, NG_011856.1:g.5177T>A, 59854583, 118196528, NC_000003.12:g.119780660T>G, NC_000003.11:g.119499507T>A, rs59854583, NG_011856.1:g.5177T>G, NC_000003.11:g.119499507T>C, rs3814054, NC_000003.11:g.119499507T>G, 3814054 +PA166157299 rs1524107 PA198 IL6 NC_000007.14:22728600 2 0 0 0 0 NC_000007.14:g.22728600C>G, XM_011515391.1:c.-18-93C>T, 1524107, rs1524107, NC_000007.13:g.22768219C>T, NC_000007.14:g.22728600C>T, NG_011640.1:g.6454C>T, NC_000007.13:g.22768219=, NG_011640.1:g.6454C>G, NM_000600.4:c.211-93C>T, NM_001318095.1:c.-18-93C>T, NC_000007.13:g.22768219C>G, NR_131935.1:n.-980G>A, NC_000007.14:g.22728600=, XM_005249745.1:c.373-93C>T, XM_005249745.3:c.373-93C>T, XM_011515390.1:c.211-93C>T, XM_005249746.1:c.-18-93C>T, NG_011640.1:g.6454= +PA166200061 rs1525085 PA27311 DGKB NC_000007.14:14600073 1 1 0 0 0 NG_029494.2:g.379705C>T, NC_000007.14:g.14600073G>A, NC_000007.13:g.14639698G>A, NC_000007.14:g.14600073=, rs1525085, NC_000007.13:g.14639698=, 1525085, NG_029494.2:g.379705= +PA166160228 rs1528072 PA142671604 KANSL1 NC_000017.11:46159359 1 0 0 0 0 NG_032784.1:g.71016G>T, NC_000017.10:g.44236725C>A, 564325593, 60153950, NC_000017.11:g.46159359=, 117758323, NC_000017.11:g.46159359C>A, NG_032784.1:g.71016=, NC_000017.10:g.44236725=, rs1528072, 1528072 +PA166156764 rs1529461 PA35828 SLC1A3 NC_000005.10:36689261 1 0 0 0 0 NC_000005.9:g.36689363A>G, rs57230569, NC_000005.10:g.36689261A>G, 57230569, NC_000005.9:g.36689363=, 1529461, NC_000005.10:g.36689261=, NG_015890.1:g.87907A>G, NG_015890.1:g.87907=, rs1529461 +PA166154331 rs1529909 PA38478 SLC22A12 NC_000011.10:64598471 1 0 0 0 0 XM_005273743.1:c.729-45T>C, NG_008110.1:g.12662T>C, NM_001276327.1:c.507-45T>C, XM_005273740.1:c.906-45T>C, XM_006718430.2:c.906-45T>C, NC_000011.10:g.64598471T>A, NC_000011.10:g.64598471T>C, NM_001276326.1:c.729-45T>C, XM_005273742.1:c.906-45T>C, rs79866595, XM_005273745.1:c.729-45T>C, NG_008110.1:g.12662T>A, XM_005273746.1:c.507-45T>C, NC_000011.9:g.64365943=, XM_005273744.1:c.831-45T>C, XM_005273747.1:c.168-45T>C, NG_008110.1:g.12662=, NC_000011.10:g.64598471=, NM_153378.2:c.168-45T>C, NC_000011.9:g.64365943T>A, XM_005273741.1:c.831-45T>C, XM_006718431.2:c.801-45T>C, rs1529909, 1529909, NM_144585.3:c.831-45T>C, NC_000011.9:g.64365943T>C, 79866595 +PA166155014 rs1529927 PA321 SLC12A3 NC_000016.10:56870675 2 1 0 0 0 NM_001126108.1:c.791G>C, NC_000016.10:g.56870675=, NM_000339.2:c.791G=, NG_009386.1:g.10469G>A, NG_009386.1:g.10469G>C, NM_001126107.1:c.788G>C, NP_001119579.1:p.Gly263Ala, NG_009386.2:g.10469=, NC_000016.10:g.56870675C>G, NP_001119579.1:p.Gly263=, NP_000330.2:p.Gly264=, NP_000330.2:p.Gly264Ala, NP_001119580.1:p.Gly264=, NP_000330.3:p.Ala264Asp, NC_000016.9:g.56904587=, NG_009386.1:g.10469G=, NG_009386.2:g.10469C>A, NM_001126108.1:c.791G=, NP_000330.3:p.Ala264Gly, rs1529927, NM_000339.2:c.791G>C, XM_005256119.1:c.788C>G, rs52815294, NP_000330.3:p.Ala264=, 1529927, NC_000016.10:g.56870675C>A, NC_000016.9:g.56904587C>A, XP_005256176.1:p.Ala263Gly, NM_001126107.1:c.788G=, NG_009386.2:g.10469C>G, NC_000016.9:g.56904587C>G, NP_001119580.1:p.Gly264Ala, 52815294 +PA166153969 rs1530440 PA134897916 CABCOCO1 NC_000010.11:61764833 1 0 0 0 0 NM_173554.2:c.553-1106C>T, XM_005269600.3:c.553-1106C>T, XM_005269598.1:c.679-1106C>T, NC_000010.11:g.61764833C>T, rs1530440, XM_005269598.2:c.679-1106C>T, NC_000010.10:g.63524591=, 1530440, XM_005269599.1:c.679-1106C>T, XM_005269599.3:c.679-1106C>T, XM_005269600.1:c.553-1106C>T, XM_006717690.2:c.817-1106C>T, rs56596595, NC_000010.11:g.61764833=, NC_000010.10:g.63524591C>T, XM_005269601.1:c.538-1106C>T, rs17282910, 56596595, 17282910 +PA166156765 rs1532268 PA31277 MTRR NC_000005.10:7878066 2 0 0 0 0 XP_005248362.1:p.Ser175Leu, NP_076915.2:p.Ser202Leu, NP_002445.2:p.Ser175Leu, NG_008856.1:g.13963=, XM_011514045.1:c.605C>T, 58799540, NR_134480.1:n.647C>T, NM_002454.2:c.524C>T, NR_134482.1:n.507C>T, XM_011514044.1:c.524C>T, rs58799540, XR_925614.1:n.627C>T, NC_000005.10:g.7878066=, XP_005248361.1:p.Ser190Leu, XR_241701.1:n.627C>T, XP_011512345.1:p.Ser202Leu, XP_011512346.1:p.Ser175Leu, XM_011514043.1:c.605C>T, NP_076915.3:p.Ser175Leu, XR_241703.1:n.620C>T, NC_000005.9:g.7878179C>T, NP_076915.3:p.Ser175=, XP_006714537.1:p.Ser202Leu, XR_241702.1:n.627C>T, NG_008856.1:g.13963C>T, XR_925615.1:n.627C>T, NC_000005.10:g.7878066C>T, XP_011512347.1:p.Ser202Leu, XM_005248305.1:c.524C>T, NR_134481.1:n.661C>T, rs1532268, NM_024010.2:c.605C>T, XM_006714474.2:c.605C>T, 1532268, NC_000005.9:g.7878179=, XM_005248304.1:c.569C>T +PA166155015 rs1532624 PA108 CETP NC_000016.10:56971567 1 1 0 0 0 XM_006721124.2:c.658+186C>A, NC_000016.9:g.57005479C>A, rs59150318, rs17238065, NC_000016.9:g.57005479=, NM_001286085.1:c.658+186C>A, NC_000016.10:g.56971567C>A, XM_005255776.1:c.658+186C>A, rs386536007, NG_008952.1:g.14645=, 59150318, NM_000078.2:c.658+186C>A, 17238065, NG_008952.1:g.14645C>A, rs1532624, 1532624, 386536007, NC_000016.10:g.56971567= +PA166156324 rs1533682 PA395 ABCC5 NC_000003.12:183917091 1 0 0 0 0 NC_000003.12:g.183917091T>A, rs1533682, NC_000003.12:g.183917091T>C, rs17552221, 1533682, NC_000003.11:g.183634879T>C, 17552221, NC_000003.11:g.183634879T>A, NC_000003.12:g.183917091=, 60788544, NC_000003.11:g.183634879=, rs60788544 +PA166156078 rs1534891 PA26953 CSNK1E NC_000022.11:38299094 2 1 0 0 0 56470422, NC_000022.10:g.38695099T>A, 1534891, NG_016707.1:g.23991=, rs1534891, NM_001894.4:c.737-160A>G, NC_000022.10:g.38695099=, NC_000022.11:g.38299094T>C, NC_000022.11:g.38299094T>A, 56660139, XM_005261344.1:c.737-160A>G, NC_000022.10:g.38695099T>C, NG_016707.1:g.23991A>T, NG_016707.1:g.23991A>G, NM_001289912.1:c.737-160A>G, XM_005261346.1:c.737-160A>G, rs56470422, NC_000022.11:g.38299094=, XM_005261343.1:c.737-160A>G, NM_152221.2:c.737-160A>G, XM_005261345.1:c.737-160A>G, rs56660139 +PA166156716 rs153549 PA134882361 REEP5 NC_000005.10:112900600 1 1 0 0 0 NC_000005.10:g.112900600=, NC_000005.9:g.112236297=, rs386536174, rs60076247, XR_246544.1:n.250-13417T>C, 257266, XM_005272079.1:c.351+1780T>C, 386536174, 153549, NM_005669.4:c.351+1780T>C, 60076247, NC_000005.9:g.112236297A>G, NC_000005.10:g.112900600A>G, rs257266, rs153549 +PA166156717 rs153560 PA134882361 REEP5 NC_000005.10:112918680 1 1 0 0 0 153560, NC_000005.10:g.112918680G>A, rs386536182, NM_005669.4:c.212+2483C>T, NC_000005.10:g.112918680G>C, 58710272, XR_246544.1:n.249+2483C>T, 386536182, 61356570, rs58710272, rs258307, NC_000005.10:g.112918680G>T, 257283, NC_000005.9:g.112254377G>T, 258307, rs153560, rs257283, NC_000005.9:g.112254377=, NC_000005.10:g.112918680=, XM_005272079.1:c.212+2483C>T, rs61356570, NC_000005.9:g.112254377G>A, NC_000005.9:g.112254377G>C +PA166157728 rs1536475 PA34890 RXRA NC_000009.12:134429310 1 1 0 0 0 rs1536475, rs35657656, 1536475, NC_000009.12:g.134429310A>G, NC_000009.11:g.137321156A>T, NM_002957.5:c.1043+70A>G, NM_001291921.1:c.752+70A>G, 17569161, NC_000009.11:g.137321156A>G, 35657656, NC_000009.12:g.134429310A>T, NC_000009.11:g.137321156=, rs17569161, XM_005263409.1:c.962+70A>G, NC_000009.12:g.134429310=, NM_001291920.1:c.962+70A>G +PA166157729 rs1537416 PA38725 KCNT1 NC_000009.12:135725457 1 0 0 0 0 rs58166590, XM_011518878.1:c.389+10737T>C, XM_005263407.1:c.254+10737T>C, NC_000009.11:g.138617303T>C, NG_033070.1:g.28273=, NM_001272003.1:c.110+23089T>C, NM_020822.2:c.254+10737T>C, NC_000009.12:g.135725457=, XM_011518877.1:c.389+10737T>C, NG_033070.1:g.28273T>C, 58166590, NC_000009.11:g.138617303=, rs1537416, NC_000009.12:g.135725457T>C, XM_011518879.1:c.389+10737T>C, 1537416 +PA166154515 rs1540339 PA37301 VDR NC_000012.12:47863543 2 1 0 0 0 XM_006719587.2:c.277+1504G>A, NM_000376.2:c.277+1504G>A, rs60763867, NC_000012.11:g.48257326C>T, XM_011538720.1:c.277+1504G>A, 60763867, NM_001017535.1:c.277+1504G>A, NC_000012.12:g.47863543C>T, 1540339, rs1540339, NG_008731.1:g.46489G>A, NG_008731.1:g.46489=, rs386536515, NM_001017536.1:c.427+1504G>A, NC_000012.12:g.47863543=, NC_000012.11:g.48257326=, 386536515 +PA166157730 rs1541333 PA136 DBH NC_000009.12:133646263 1 0 0 0 0 NC_000009.12:g.133646263C>G, 1541333, rs61663105, rs1541333, NC_000009.12:g.133646263=, NG_008645.1:g.14901C>G, 17293287, NC_000009.11:g.136511385=, NG_008645.1:g.14901=, 61663105, NM_000787.3:c.1025-1583C>G, rs17293287, 3819498, NC_000009.11:g.136511385C>G, rs3819498 +PA166157731 rs1544105 PA167 FPGS NC_000009.12:127800446 6 3 0 0 0 60601426, rs60601426, NC_000009.11:g.130562725=, 1544105, NG_023245.1:g.2572=, rs1544105, NC_000009.11:g.130562725C>T, NG_023245.1:g.2572C>T, 56775301, NC_000009.12:g.127800446=, rs56775301, NC_000009.12:g.127800446C>T +PA166176812 rs1544223 PA24589,PA166123749 ADORA3,TMIGD3 NC_000001.11:111503935 3 0 0 0 0 NC_000001.11:g.111503935C>T, NC_000001.11:g.111503935C>A, NC_000001.10:g.112046557C>T, 1544223, NC_000001.10:g.112046557C>A, rs1544223, NG_032119.1:g.65041G>A, NG_032119.1:g.65041G>T, NC_000001.10:g.112046557=, NG_032119.1:g.65041=, NC_000001.11:g.111503935= +PA166154516 rs1544410 PA37301 VDR NC_000012.12:47846052 15 6 0 0 0 NG_008731.1:g.63980G>A, NG_008731.1:g.63980G>C, XR_944903.1:n.-763C>T, 386536760, NC_000012.12:g.47846052C>T, rs386536760, NC_000012.11:g.48239835=, NM_000376.2:c.1024+283G>A, 1544410, rs1544410, NM_001017535.1:c.1024+283G>A, XM_011538720.1:c.1024+283G>A, rs56495123, XM_006719587.2:c.1024+283G>A, 56495123, NC_000012.11:g.48239835C>T, NM_001017536.1:c.1174+283G>A, NC_000012.12:g.47846052=, 56911380, NG_008731.1:g.63980=, NC_000012.12:g.47846052C>G, NC_000012.11:g.48239835C>G, NG_008731.1:g.63980G>T, rs56911380, NC_000012.12:g.47846052C>A, NC_000012.11:g.48239835C>A +PA166156766 rs1544938 PA24561 ADCY2 NC_000005.10:7634119 1 1 0 0 0 61224038, rs1544938, NC_000005.10:g.7634119G>T, NC_000005.9:g.7634232=, NC_000005.9:g.7634232G>T, XM_011513942.1:c.720+7803G>C, NG_046913.1:g.242890G>T, NG_046913.1:g.242890=, 1544938, NC_000005.10:g.7634119G>C, NC_000005.10:g.7634119=, NM_020546.2:c.720+7803G>C, NC_000005.10:g.7634119G>A, rs61224038, NC_000005.9:g.7634232G>A, NC_000005.9:g.7634232G>C, NG_046913.1:g.242890G>A, NG_046913.1:g.242890G>C, XR_427657.2:n.734+7803G>C +PA166157562 rs1546519 PA30498 LYN NC_000008.11:55911999 1 0 0 0 0 59288023, NC_000008.10:g.56824558G>A, XM_011517529.1:c.642+31896G>A, rs1546519, NM_002350.3:c.-5-29856G>A, 1546519, rs59288023, NG_029593.1:g.37173=, NC_000008.11:g.55911999=, NM_001111097.2:c.-5-29856G>A, XR_928779.1:n.1641+31896G>A, NC_000008.11:g.55911999G>A, NC_000008.10:g.56824558=, NG_029593.1:g.37173G>A, XM_011517530.1:c.642+31896G>A +PA166155637 rs1551285 PA37183 UGT1A8 NC_000002.12:233620476 1 0 0 0 0 NC_000002.12:g.233620476A>T, NC_000002.11:g.234529122=, NC_000002.11:g.234529122A>G, NC_000002.11:g.234529122A>T, NG_002601.2:g.35733A>T, rs1551285, 60826737, NG_002601.2:g.35733=, 1551285, NM_019076.4:c.855+1914A>C, NC_000002.12:g.233620476A>C, NC_000002.12:g.233620476=, NC_000002.12:g.233620476A>G, NG_002601.2:g.35733A>G, NC_000002.11:g.234529122A>C, rs60826737, NG_002601.2:g.35733A>C +PA166157243 rs15524 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99648291 9 3 0 0 0 XM_011515845.1:c.*14T>C, 3173576, rs17161789, rs3173576, NM_001291830.1:c.*14T>C, XM_005250197.1:c.*768A>G, NC_000007.14:g.99648291=, 10372852, XM_005250172.1:c.*14T>C, NG_007938.1:g.36708=, 17161789, 59358441, NC_000007.14:g.99648291A>G, XM_005250173.1:c.*14T>C, 15524, NG_007938.1:g.36708T>C, NC_000007.13:g.99245914A>G, XM_011515846.1:c.*14T>C, rs59358441, XM_005250170.1:c.*14T>C, NR_033808.1:n.2125T>C, XM_005250198.1:c.805+24111A>G, XM_011515910.1:c.*768A>G, XR_927402.1:n.1466+24111A>G, NM_000777.4:c.*14T>C, XM_011515847.1:c.*14T>C, XM_011515843.1:c.*14T>C, XM_011515909.1:c.806-20804A>G, XM_005250171.1:c.*14T>C, NC_000007.13:g.99245914=, NM_001291829.1:c.*14T>C, NR_033807.2:n.3257T>C, NR_033809.1:n.1885T>C, rs10372852, rs15524, XM_005250169.1:c.*14T>C, XM_011515844.1:c.*14T>C +PA166177730 rs1552498 PA29456 HRH1 NC_000003.12:11188778 1 0 0 0 0 NC_000003.11:g.11230464=, rs1552498, 17384208, NC_000003.11:g.11230464G>A, 1552498, NC_000003.12:g.11188778=, 58094708, NC_000003.12:g.11188778G>A +PA166154865 rs1554203 PA24927 AQP9 NC_000015.10:58137348 1 0 0 0 0 XM_005254347.1:c.-1018A>G, rs386537472, NC_000015.9:g.58429547=, rs61074455, rs3809533, 386537472, NG_011975.1:g.4140A>G, 3809533, NC_000015.10:g.58137348A>G, NC_000015.9:g.58429547A>G, NG_011975.2:g.4140A>G, NM_020980.3:c.-1218A>G, rs1554203, 1554203, 61074455, NG_011975.2:g.4140=, NC_000015.10:g.58137348= +PA166179995 rs1554929 NC_000011.10:113408042 1 0 0 0 0 NC_000011.10:g.113408042C>T, NG_008841.1:g.72238=, 1554929, rs1554929, NC_000011.9:g.113278764C>T, NG_008841.1:g.72238G>A, 12806110, NC_000011.10:g.113408042=, 386537527, NC_000011.9:g.113278764= +PA166157732 rs1554973 PA162382618,PA36552 CNPY4,TLR4 NC_000009.12:117718534 1 1 0 0 0 NG_011475.1:g.19353=, NC_000009.11:g.120480812T>C, NG_011475.1:g.19353T>C, NC_000009.12:g.117718534=, rs61079372, rs1554973, 1554973, NC_000009.11:g.120480812=, NC_000009.12:g.117718534T>C, 61079372 +PA166211541 rs1555511231 NC_000016.10:55794229 2 0 0 0 0 1555511231, NC_000016.10:g.55794229=, rs1555511231, rs2287194, NC_000016.9:g.55828141=, NC_000016.9:g.55828141T>C, NC_000016.10:g.55794229T>C +PA166157544 rs15561 PA17 NAT1 NC_000008.11:18223142 7 0 0 0 0 NM_000662.7:c.*222A>C, 57085971, 15561, XM_005273678.1:c.*222A>C, NM_001291962.1:c.*222A>C, XM_005273679.1:c.*222A>C, NC_000008.11:g.18223142=, NC_000008.10:g.18080651A>T, NM_001160172.3:c.*222A>C, NC_000008.11:g.18223142A>T, NM_001160173.3:c.*222A>C, NM_001160171.3:c.*222A>C, NM_001160179.2:c.*222A>C, NM_001160170.3:c.*222A>C, XM_005273677.1:c.*222A>C, 3197752, NG_012245.2:g.57681A>C, NC_000008.10:g.18080651=, rs15561, NC_000008.10:g.18080651A>C, NG_012245.2:g.57681=, NM_001160174.2:c.*222A>C, rs3197752, NM_001160176.3:c.*222A>C, NG_012245.2:g.57681A>T, rs57085971, NM_001160175.3:c.*222A>C, XM_011544687.1:c.*222A>C, XM_006716410.2:c.*222A>C, NC_000008.11:g.18223142A>C, XM_011544688.1:c.*222A>C, XM_011544689.1:c.*222A>C +PA166241841 rs1556422499 PA31274 MT-RNR1 NC_012920.1:961 4 3 0 0 0 rs1556422499, NC_012920.1:m.961delT, 1556422499, NC_012920.1:m.961=, NC_012920.1:m.961delinsCCC, NC_012920.1:m.961delTinsC(n), NC_012920.1:m.961delinsCC, NC_012920.1:m.961delinsCCCCC, NC_012920.1:m.961delinsCCCC, NC_012920.1:m.961delinsCCCCCC, NC_012920.1:m.961delinsCCCCCCC +PA166154700 rs1557070 PA397 ABCC4 NC_000013.11:95186749 2 0 0 0 0 XP_005254085.1:p.Tyr424=, XM_005254027.1:c.1272C>T, rs1557070, XM_005254028.1:c.1272C>T, 1557070, NC_000013.11:g.95186749=, XP_005254082.1:p.Tyr456=, 56797995, NM_005845.4:c.1497C>T, NG_050651.1:g.119698=, NC_000013.10:g.95839003G>A, XP_005254084.1:p.Tyr424=, XP_011519349.1:p.Tyr316=, XM_005254025.1:c.1368C>T, NC_000013.10:g.95839003=, NM_001105515.2:c.1497C>T, NG_050651.1:g.119698C>T, NP_001288758.1:p.Tyr499=, XP_006719977.1:p.Tyr469=, XM_011521047.1:c.948C>T, NP_005836.2:p.Tyr499=, XP_005254083.1:p.Tyr499=, NM_001301830.1:c.1272C>T, XM_006719914.1:c.1407C>T, NP_001098985.1:p.Tyr499=, NC_000013.11:g.95186749G>A, XM_005254025.2:c.1368C>T, XM_005254026.1:c.1497C>T, NM_001301829.1:c.1497C>T, rs56797995, NP_001288759.1:p.Tyr424= +PA166236481 rs1560022535 PA25294 BCHE NC_000003.12:165829629 1 1 0 0 0 1560022535, NC_000003.11:g.165547417C>G, NP_000046.1:p.Glu469=, rs1560022535, NC_000003.12:g.165829629=, NC_000003.11:g.165547417=, NC_000003.12:g.165829629C>G, NG_009031.1:g.12837=, NG_009031.1:g.12837G>C, NP_000046.1:p.Glu469Gln +PA166156767 rs1560661 PA26236 CD74 NC_000005.10:150413894 1 0 0 0 0 rs1560661, 1560661, NC_000005.10:g.150413894C>T, XM_005268546.1:c.-914G>A, NG_029730.1:g.4043G>A, XM_005268545.1:c.-914G>A, NM_001025159.2:c.-1145G>A, NG_029730.1:g.4043=, NM_001025158.2:c.-1145G>A, rs56832097, NM_004355.3:c.-1145G>A, NC_000005.10:g.150413894=, NC_000005.9:g.149793457=, NC_000005.9:g.149793457C>T, 56832097 +PA166154332 rs1561876 PA298,PA36195 RRM1,STIM1 NC_000011.10:4092165 2 1 0 0 0 NM_003156.3:c.*367G>A, XM_005253086.1:c.*367G>A, XM_005253087.1:c.*367G>A, NM_001277961.1:c.*367G>A, 60740775, rs1561876, 1561876, rs3750995, 3750995, NG_027992.2:g.2472G>T, NC_000011.10:g.4092165G>A, NG_016277.1:g.241463=, NC_000011.10:g.4092165G>C, NG_016277.1:g.241463G>T, rs60740775, NM_001277962.1:c.*839G>A, NC_000011.9:g.4113395G>A, NG_027992.2:g.2472G>C, NC_000011.9:g.4113395=, NG_027992.2:g.2472G>A, NC_000011.9:g.4113395G>C, NG_027992.2:g.2472=, NC_000011.10:g.4092165=, NC_000011.10:g.4092165G>T, NG_016277.1:g.241463G>C, NG_016277.1:g.241463G>A, NC_000011.9:g.4113395G>T +PA166153633 rs1563828 PA30719 MDM4 NC_000001.11:204547449 1 1 0 0 0 NC_000001.10:g.204516577A>T, NM_001204172.1:c.79-1817A>G, rs3789049, XR_241080.1:n.1001+572A>G, XR_241079.1:n.1026+572A>G, NG_029367.1:g.36071=, NG_029367.1:g.36071A>T, NC_000001.11:g.204547449=, NM_001204171.1:c.753+572A>G, NC_000001.11:g.204547449A>G, 3789049, XM_005245168.1:c.957+572A>G, XM_011509566.1:c.*412+572A>G, NC_000001.11:g.204547449A>T, NM_001278519.1:c.234+572A>G, NC_000001.10:g.204516577=, NM_001278518.1:c.*73+572A>G, XR_241081.1:n.851+572A>G, 1563828, rs1563828, XM_006711328.1:c.888+572A>G, NM_002393.4:c.903+572A>G, NM_001278516.1:c.*412+572A>G, XM_011509565.1:c.903+572A>G, NC_000001.10:g.204516577A>G, NG_029367.1:g.36071A>G, NM_001278517.1:c.609+572A>G +PA166181276 rs1564481 PA390 ABCG2 NC_000004.12:88140113 1 0 0 0 0 NC_000004.12:g.88140113=, NG_032067.2:g.96210=, NC_000004.12:g.88140113C>T, 3775984, NG_032067.2:g.96210G>A, NC_000004.11:g.89061265=, NC_000004.11:g.89061265C>A, 17731655, 1564481, NC_000004.11:g.89061265C>T, NG_032067.2:g.96210G>T, NC_000004.12:g.88140113C>A, rs1564481 +PA166243730 rs1564656981 PA124 CYP2C19 NC_000010.11:94762788 6 1 1 0 0 NC_000010.11:g.94762788A>T, rs1564656981, NP_000760.1:p.Lys28=, NC_000010.11:g.94762788=, NG_055436.1:g.2148A>T, NG_055436.1:g.2148=, 1564656981, NG_008384.3:g.5108=, NG_008384.3:g.5108A>T, NC_000010.10:g.96522545=, NC_000010.10:g.96522545A>T, NP_000760.1:p.Lys28Ile +PA166243731 rs1564657013 PA124 CYP2C19 NC_000010.11:94762856 20 2 2 0 0 NC_000010.11:g.94762856=, NC_000010.10:g.96522613A>G, NG_008384.3:g.5176A>G, rs1564657013, NG_008384.3:g.5176=, NC_000010.11:g.94762856A>G, NP_000760.1:p.Ser51=, 1564657013, NC_000010.10:g.96522613=, NP_000760.1:p.Ser51Gly +PA166243732 rs1564660997 PA124 CYP2C19 NC_000010.11:94775121 6 1 1 0 0 rs1564660997, NP_000760.1:p.His78Tyr, NC_000010.10:g.96534878=, NG_008384.3:g.17441=, NP_000760.1:p.His78=, NC_000010.10:g.96534878C>T, NC_000010.11:g.94775121=, 1564660997, NC_000010.11:g.94775121C>T, NG_008384.3:g.17441C>T +PA166157733 rs1565445 PA31818 NTRK2 NC_000009.12:85002156 1 0 0 0 0 XM_005252002.1:c.2173-18050G>A, NC_000009.11:g.87617071=, NG_012201.2:g.338606G>A, rs1565445, 57679670, 1565445, NG_012201.2:g.338606=, XM_011518719.1:c.2125-18050G>A, NM_006180.4:c.2173-18050G>A, XM_005252003.1:c.2173-18050G>A, XM_011518718.1:c.2125-18050G>A, NC_000009.12:g.85002156=, rs57679670, XM_005252001.1:c.2173-18050G>A, NM_001018064.2:c.2125-18050G>A, NC_000009.11:g.87617071G>A, NC_000009.12:g.85002156G>A, XM_005252004.1:c.2173-18050G>A, XM_005252005.1:c.2125-18050G>A +PA166185728 rs1567817380 PA35006 SCN4A NC_000017.11:63943834 2 2 0 0 0 rs1567817380, NG_042788.1:g.26742A>T, NG_042788.1:g.26742=, NG_011699.1:g.34085T>A, NG_011699.1:g.34085=, NP_000325.4:p.Ile1310=, NC_000017.10:g.62021194A>T, 1567817380, NC_000017.10:g.62021194=, NC_000017.11:g.63943834=, NC_000017.11:g.63943834A>T, NP_000325.4:p.Ile1310Asn +PA166279704 rs1568513196 PA121 CYP2A6 NC_000019.10:40843713_40843714 52 6 6 0 0 NC_000019.10:g.40843713_40843714=, NG_008377.1:g.11734_11735=, NC_000019.9:g.41349618_41349619=, rs1568513196, NC_000019.9:g.41349618_41349619del, NG_008377.1:g.11734_11735del, 1568513196, NC_000019.10:g.40843713_40843714del +PA166279699 rs1568513216 PA121 CYP2A6 NC_000019.10:40843728 51 6 6 0 0 NC_000019.9:g.41349632_41349633insG, 1568513216, NC_000019.10:g.40843727_40843728=, NC_000019.10:g.40843727_40843728insG, NG_008377.1:g.11720_11721insC, NG_008377.1:g.11720_11721=, rs1568513216, NC_000019.9:g.41349632_41349633= +PA166157300 rs1568885 NC_000007.14:13597906 1 0 0 0 0 NC_000007.13:g.13637531T>A, rs17280787, NC_000007.13:g.13637531=, rs1568885, 1568885, NC_000007.14:g.13597906T>A, 17280787, NC_000007.14:g.13597906= +PA166185915 rs1569304898 PA28707 GLA NC_000023.11:101403926 1 1 0 0 0 NP_000160.1:p.Gly85=, NG_007119.1:g.9038G>T, NC_000023.11:g.101403926=, 1569304898, NC_000023.11:g.101403926C>G, NG_016327.1:g.724C>A, NC_000023.10:g.100658914=, NC_000023.10:g.100658914C>A, NC_000023.11:g.101403926C>T, NG_016327.1:g.724=, NG_016327.1:g.724C>G, NC_000023.10:g.100658914C>G, rs1569304898, NG_007119.1:g.9038G>C, NG_016327.1:g.724C>T, NG_007119.1:g.9038G>A, NP_000160.1:p.Gly85Ala, NC_000023.11:g.101403926C>A, NP_000160.1:p.Gly85Asp, NC_000023.10:g.100658914C>T, NG_007119.1:g.9038=, NP_000160.1:p.Gly85Val +PA166156985 rs1570360 PA37302 VEGFA NC_000006.12:43770093 11 3 0 0 0 NM_001204385.1:c.-614A>G, rs58036053, XM_005249363.1:c.-2027A>G, NM_001025370.2:c.-614A>G, NM_001317010.1:c.-1154A>G, NM_001025368.2:c.-614A>G, NM_001025369.2:c.-614A>G, 1570360, NM_001204384.1:c.-1154A>G, NC_000006.11:g.43737830=, NM_001287044.1:c.-2027A>G, NM_001171630.1:c.-1154A>G, NM_001025367.2:c.-614A>G, NC_000006.12:g.43770093A>G, NM_001171627.1:c.-1154A>G, NG_008732.1:g.4878=, NM_001025366.2:c.-614A>G, NM_001171629.1:c.-1154A>G, NM_001033756.2:c.-614A>G, NM_001171628.1:c.-1154A>G, NC_000006.12:g.43770093=, NM_001171622.1:c.-614A>G, 36208386, NM_001171626.1:c.-1154A>G, NM_001171625.1:c.-1154A>G, NG_008732.1:g.4878A>G, NM_001171623.1:c.-1154A>G, NM_001171624.1:c.-1154A>G, rs1570360, rs36208386, 58036053, NM_003376.5:c.-614A>G, NC_000006.11:g.43737830A>G +PA166179074 rs157880 PA34892 RXRG NC_000001.11:165431763 1 0 0 0 0 456810, 3767354, NC_000001.11:g.165431763C>T, NC_000001.11:g.165431763=, NC_000001.10:g.165401000C>T, rs157880, NG_029517.2:g.18593=, NG_029517.2:g.18593G>A, NG_029517.1:g.18593=, NG_029517.1:g.18593G>A, 58118762, NC_000001.10:g.165401000=, 157880 +PA166155581 rs1594 PA26425 CFLAR NC_000002.12:201160898 1 0 0 0 0 NP_001189446.1:p.Pro324=, rs17349452, NC_000002.12:g.201160898=, NP_001189447.1:p.Pro324=, NP_001189448.1:p.Pro324=, rs1061060, 386539412, NC_000002.12:g.201160898A>G, XP_005246993.1:p.Pro420=, XP_005246994.1:p.Pro420=, rs386539412, NG_029005.1:g.49745=, 17860390, NP_001294971.1:p.Pro420=, rs3201918, XP_005246992.1:p.Pro420=, 1061060, XM_005246935.1:c.1260A>G, NG_029005.1:g.49745A>G, 7913, rs17860390, NM_001202519.1:c.972A>G, NM_001202515.1:c.525A>G, NM_001127183.2:c.1260A>G, XM_005246936.1:c.1260A>G, 1594, NC_000002.11:g.202025621=, NM_001202516.1:c.1155A>G, NM_001308042.1:c.1260A>G, NP_001189445.1:p.Pro385=, XM_005246937.1:c.1260A>G, 3201918, NC_000002.11:g.202025621A>G, NP_001189444.1:p.Pro175=, NP_001120655.1:p.Pro420=, 17349452, rs1060960, rs7913, 1060960, rs1594, NM_001202518.1:c.972A>G, XM_005246937.3:c.1260A>G, NM_001202517.1:c.972A>G, NM_003879.5:c.1260A>G, NP_003870.4:p.Pro420= +PA166155638 rs1594160 PA37404 XDH NC_000002.12:31356103 1 1 0 0 0 NG_008871.1:g.63643T>C, 59084801, NG_008871.1:g.63643T>A, NC_000002.12:g.31356103=, 60115556, NM_000379.3:c.2632-5880T>G, NG_008871.2:g.63643T>G, rs4372951, 4951979, 4372951, rs4951979, rs60115556, XM_011533096.1:c.2632-5880T>G, rs59084801, NC_000002.11:g.31578969=, NC_000002.12:g.31356103A>T, NG_008871.2:g.63643=, NC_000002.11:g.31578969A>T, XM_011533095.1:c.2629-5880T>G, NC_000002.12:g.31356103A>G, 1594160, NG_008871.2:g.63643T>A, NG_008871.2:g.63643T>C, NC_000002.12:g.31356103A>C, rs1594160, NG_008871.1:g.63643T>G, NC_000002.11:g.31578969A>C, NG_008871.1:g.63643=, NC_000002.11:g.31578969A>G +PA166155639 rs1596996 NC_000002.12:166596951 1 0 0 0 0 NC_000002.11:g.167453461=, 60878471, NC_000002.12:g.166596951=, NC_000002.11:g.167453461T>A, NC_000002.11:g.167453461T>C, rs1596996, 1596996, NC_000002.12:g.166596951T>C, rs60878471, NC_000002.12:g.166596951T>A +PA166155345 rs16030 PA26007 CACNA1A NC_000019.10:13277090 1 0 0 0 0 XP_005260123.1:p.Phe1288=, XP_005260124.1:p.Phe1288=, rs1132006, 16030, 1132006, NM_000068.3:c.3873T>C, NP_001120694.1:p.Phe1287=, 17417551, NG_011569.1:g.234371T>C, NC_000019.10:g.13277090A>G, XP_005260122.1:p.Phe1290=, NC_000019.9:g.13387904=, XM_005260068.1:c.3861T>C, NC_000019.10:g.13277090=, rs17417551, NM_001127221.1:c.3864T>C, rs58767313, NP_075461.2:p.Phe1291=, XM_005260066.1:c.3864T>C, 17214829, rs3192361, 3192361, NP_001120693.1:p.Phe1288=, XP_005260125.1:p.Phe1287=, rs17846905, XM_005260067.1:c.3864T>C, rs16030, 58767313, NP_001167551.1:p.Phe1288=, rs17214829, XM_005260065.1:c.3870T>C, NC_000019.9:g.13387904A>G, NM_001174080.1:c.3864T>C, NP_000059.3:p.Phe1291=, NM_023035.2:c.3873T>C, NG_011569.1:g.234371=, NM_001127222.1:c.3861T>C, 17846905 +PA166241901 rs1603218569 PA31259,PA31274 MT-ND1,MT-RNR1 NC_012920.1:1520 1 1 0 0 0 rs1603218569, 1603218569, NC_012920.1:m.1520=, NC_012920.1:m.1520T>C +PA166159111 rs160919 PA145149863 ANKRD55 NC_000005.10:56113594 1 0 0 0 0 NC_000005.10:g.56113594=, NC_000005.10:g.56113594G>A, NC_000005.9:g.55409421=, NC_000005.9:g.55409421G>A, 1069184, rs160919, 1276838, 160919, 58367639 +PA166156986 rs1610696 PA35083 HLA-G NC_000006.12:29831026 1 0 0 0 0 NT_167249.2:g.1137071G=, NG_029039.1:g.9048=, NT_167246.1:g.1099132C=, NT_167248.2:g.1093806G>C, XR_247370.1:n.1913C>G, XR_247370.1:n.1913G>C, NT_167244.2:g.1096652G=, NT_167248.2:g.1093806G=, NT_113891.3:g.1314602G=, NT_167246.1:g.1099132C>G, NG_029039.1:g.9048C>G, rs115045214, NT_167247.1:g.1099082C=, XR_247423.1:n.1905C>G, XR_247423.1:n.1905G>C, rs117220578, XM_011547882.1:c.*287C=, NC_000006.11:g.29798803C>G, NT_167247.1:g.1099082C>G, XM_005249057.1:c.*502C>G, XM_005249057.1:c.*502G>C, NG_029039.1:g.9048C=, rs1610696, 1610696, NC_000006.11:g.29798803=, XM_005275246.1:c.*287C>G, XM_005275246.1:c.*287G>C, 17185510, NC_000006.12:g.29831026=, NC_000006.12:g.29831026C=, XM_005275247.1:c.*287C>G, XM_005275247.1:c.*287G>C, XM_005275249.1:c.*287C>G, XM_005275249.1:c.*287G>C, 115045214, XR_247353.1:n.1913C>G, XR_247353.1:n.1913G>C, XM_005274966.1:c.*502C>G, XM_005274966.1:c.*502G>C, XM_011548431.1:c.*301C>G, XM_011548431.1:c.*301G>C, XM_011547882.1:c.*287C>G, NT_167247.2:g.1093497C>G, XM_005275122.1:c.*287C>G, XM_005275122.1:c.*287G>C, XM_011548236.1:c.*301C>G, XM_011548236.1:c.*301G>C, XM_011548430.1:c.*301C>G, XM_011548430.1:c.*301G>C, 117220578, XM_011548237.1:c.*301C>G, XM_011548237.1:c.*301G>C, rs17185510, XM_005275551.1:c.*516C>G, XM_005275551.1:c.*516G>C, NC_000006.11:g.29798803C=, XM_005275120.1:c.*287C>G, XM_005275120.1:c.*287G>C, NT_167245.2:g.1093839C=, XM_005249055.1:c.*287C>G, XM_005249055.1:c.*287G>C, XM_005249058.1:c.*287C>G, XM_005249058.1:c.*287G>C, XM_005275549.1:c.*301C>G, XM_005275549.1:c.*301G>C, NT_167246.2:g.1093512C>G, NT_167245.2:g.1093839C>G, XM_005249056.1:c.*287C>G, XM_005249056.1:c.*287G>C, XM_011548048.1:c.*287C>G, XM_011548048.1:c.*287G>C, XR_241896.1:n.1913C>G, XR_241896.1:n.1913G>C, NT_167249.2:g.1137071G>C, NT_167246.2:g.1093512C=, NM_002127.5:c.*287C>G, NC_000006.12:g.29831026C>G, XM_005275552.1:c.*301G=, XM_011547651.1:c.*287G>C, XM_011547651.1:c.*287C>G, XM_005275394.1:c.*301C>G, XM_005275394.1:c.*301G>C, XM_005275248.1:c.*502C>G, XM_005275248.1:c.*502G>C, NT_167244.2:g.1096652G>C, NT_167247.2:g.1093497C=, XM_005275121.1:c.*502C>G, XM_005275121.1:c.*502G>C, XM_005274967.1:c.*287C>G, XM_005274967.1:c.*287G>C, NT_113891.3:g.1314602G>C, XM_005274965.1:c.*287C>G, XM_005274965.1:c.*287G>C, XM_005274964.1:c.*287C>G, XM_005274964.1:c.*287G>C, NT_167245.1:g.1099424C>G, XR_246963.1:n.1847C>G, XR_246963.1:n.1847G>C, NM_002127.5:c.*287C=, XM_005275552.1:c.*301G>C, XM_005275119.1:c.*287C>G, XM_005275119.1:c.*287G>C, XM_005275550.1:c.*301C>G, XM_005275550.1:c.*301G>C, XR_247402.1:n.1847C>G, XR_247402.1:n.1847G>C, XR_247389.1:n.1913C>G, XR_247389.1:n.1913G>C, NT_167245.1:g.1099424C=, XM_005272810.1:c.*301C>G, XM_005272810.1:c.*301G>C +PA166233886 rs1611114 PA136 DBH NC_000009.12:133635081 4 1 0 0 0 NC_000009.11:g.136500203C>T, NC_000009.11:g.136500203=, NG_008645.1:g.3719C>T, NC_000009.12:g.133635081=, NG_008645.1:g.3719=, NC_000009.12:g.133635081C>T, rs1611114, 1611114, 60660512 +PA166157734 rs1611115 PA136 DBH NC_000009.12:133635393 9 3 0 0 0 1611115, NC_000009.11:g.136500515=, NC_000009.12:g.133635393=, NG_008645.1:g.4031T>C, NC_000009.12:g.133635393T>C, NM_000787.3:c.-979T>C, rs60944937, NC_000009.11:g.136500515T>C, 60944937, NG_008645.1:g.4031=, rs1611115 +PA166175925 rs1611131 PA136,PA164723679 DBH,DBH-AS1 NC_000009.12:133657065 1 1 0 0 0 NC_000009.12:g.133657065A>G, NG_008645.1:g.25703=, rs1611131, 56634091, NC_000009.12:g.133657065=, 1611131, NC_000009.11:g.136522187=, NC_000009.11:g.136522187A>G, NG_008645.1:g.25703A>G +PA166171048 rs1611255 NC_000006.12:29783228 1 1 0 0 0 144373461, NC_000006.11:g.29751005=, NC_000006.12:g.29783228C>A, NC_000006.11:g.29751005C>A, 9689262, 9258354, rs1611255, 1611255, NC_000006.12:g.29783228=, 28817015 +PA166171037 rs1611259 NC_000006.12:29783976 1 1 0 0 0 NC_000006.12:g.29783976C>T, rs1611259, 1611259, NC_000006.11:g.29751753=, 111738922, 9258362, NC_000006.12:g.29783976=, NC_000006.11:g.29751753C>T, NC_000006.12:g.29783976C>A, NC_000006.11:g.29751753C>A, 142425863, 13196417 +PA166155368 rs1613662 PA28824 GP6 NC_000019.10:55025227 1 1 0 0 0 NW_003571057.2:g.1032750G>A, 58160599, NC_000019.10:g.55025227=, NP_057447.5:p.Pro219Ala, NG_031963.2:g.18038C>A, NP_057447.5:p.Pro219=, rs1613662, NW_003571056.2:g.1005213G>A, NW_003571058.1:g.1007298G>A, 1613662, NT_187693.1:g.1007709G>A, rs17699914, NM_001256017.2:c.610+2351C>T, NG_031963.2:g.18038C>G, NW_003571060.1:g.928009G>A, NW_003571055.2:g.670429G>A, NW_003571061.2:g.737388G>A, 17699914, NC_000019.9:g.55536595G>C, NC_000019.9:g.55536595G>A, NG_031963.2:g.18038C>T, NW_003571059.1:g.943591G>A, NP_057447.5:p.Pro219Thr, NW_003571057.1:g.1032749G>A, NW_003571054.1:g.928625G>A, NP_001077368.2:p.Pro219Ser, NG_031963.2:g.18038=, NW_003571058.2:g.1007299G>A, NC_000019.10:g.55025227G>T, NW_003571056.1:g.1005212G>A, NC_000019.9:g.55536595=, NW_003571059.2:g.943592G>A, NM_001083899.2:c.655C>T, rs58160599, NC_000019.9:g.55536595G>T, NC_000019.10:g.55025227G>C, NM_016363.5:c.655C>T, NP_057447.5:p.Pro219Ser, NW_003571055.1:g.670428G>A, NC_000019.10:g.55025227G>A, NW_003571061.1:g.737387G>A, NW_004166865.1:g.999595G>A +PA166156518 rs1615111 PA24933 AREG NC_000004.10:75699892 1 0 0 0 0 XP_001125684.1:p.Pro10=, rs1615111, NC_000004.11:g.75480868A>G, NC_000004.10:g.75699892A>G, XM_001125684.5:c.30A>G, 1615111, NC_000004.10:g.75699892= +PA166157301 rs1617640 PA27833 EPO NC_000007.14:100719675 6 0 0 0 0 NG_021471.2:g.3876C>T, NC_000007.13:g.100317298C>A, NC_000007.14:g.100719675C>A, rs10304599, 1617640, NC_000007.14:g.100719675=, rs1617640, NC_000007.14:g.100719675C>G, XM_005250190.1:c.-1306C>A, rs57979509, NG_021471.2:g.3876C>G, NC_000007.13:g.100317298C>T, rs10342152, NG_021471.1:g.3876C>A, NC_000007.13:g.100317298=, 10304599, NC_000007.14:g.100719675C>T, NG_021471.2:g.3876C>A, NC_000007.13:g.100317298C>G, 10342152, NG_021471.2:g.3876=, 57979509, NM_000799.2:c.-1306C>A +PA166156718 rs162036 PA31277 MTRR NC_000005.10:7885846 1 0 0 0 0 XP_005248361.1:p.Lys365Arg, XR_241702.1:n.1152A>G, 696311, 329836, NM_024010.2:c.1130A>G, XR_241701.1:n.1152A>G, 61092918, XR_925614.1:n.1152A>G, 327619, NC_000005.9:g.7885959A>G, XP_006714537.1:p.Lys377Arg, XP_011512345.1:p.Lys377Arg, rs1189017, 1189017, XP_011512346.1:p.Lys350Arg, XM_005248304.1:c.1094A>G, NP_076915.3:p.Lys350Arg, NP_002445.2:p.Lys350Arg, NP_076915.2:p.Lys377Arg, NR_134480.1:n.1172A>G, rs61092918, NG_008856.1:g.21743A>G, XM_006714474.2:c.1130A>G, NP_076915.3:p.Lys350=, XR_241703.1:n.1145A>G, XM_011514043.1:c.1130A>G, NR_134482.1:n.1032A>G, NC_000005.9:g.7885959=, NM_002454.2:c.1049A>G, NR_134481.1:n.1186A>G, 52821116, XP_005248362.1:p.Lys350Arg, rs162036, NC_000005.10:g.7885846A>G, 162036, rs16879313, XM_011514044.1:c.1049A>G, rs52821116, rs327619, rs696311, rs329836, XM_005248305.1:c.1049A>G, XM_011514045.1:c.*103A>G, NC_000005.10:g.7885846=, XR_925615.1:n.1152A>G, 16879313, NG_008856.1:g.21743= +PA166179184 rs162040 PA31277 MTRR NC_000005.10:7887365 1 0 0 0 0 rs162040, NC_000005.10:g.7887365C>A, 329868, 57802318, NC_000005.9:g.7887478C>A, NC_000005.9:g.7887478C>G, NC_000005.10:g.7887365C>G, NG_008856.1:g.23262C>G, NG_008856.1:g.23262C>A, NC_000005.9:g.7887478C>T, 162040, 3776461, NC_000005.10:g.7887365=, 327596, NC_000005.10:g.7887365C>T, NG_008856.1:g.23262=, NC_000005.9:g.7887478=, NG_008856.1:g.23262C>T +PA166161800 rs162555 NC_000002.12:38080367 1 0 0 0 0 NG_008386.2:g.735=, 336059, 57851004, 162555, 386539973, NC_000002.11:g.38307509=, rs162555, 234564, NC_000002.12:g.38080367=, NC_000002.11:g.38307509T>C, NC_000002.12:g.38080367T>C, NG_008386.2:g.735A>G +PA166181494 rs162561 PA27094 CYP1B1 NC_000002.12:38071734 1 0 0 0 0 386539974, rs162561, NC_000002.11:g.38298877T>A, NG_008386.2:g.9368A>C, NC_000002.11:g.38298877T>C, 58006309, NC_000002.11:g.38298877=, 163088, NG_008386.2:g.9368=, 162561, NC_000002.12:g.38071734=, NC_000002.12:g.38071734T>G, NG_008386.2:g.9368A>T, NC_000002.12:g.38071734T>C, NC_000002.12:g.38071734T>A, NG_008386.2:g.9368A>G, NC_000002.11:g.38298877T>G +PA166154782 rs1629140 PA27672 EGLN3 NC_000014.9:33944620 1 0 0 0 0 NC_000014.9:g.33944620A>C, NC_000014.8:g.34413826A>G, NM_022073.3:c.357+5776T>C, NC_000014.9:g.33944620A>G, XM_006720015.2:c.75+6058T>C, rs60386310, NC_000014.8:g.34413826A>C, rs1629140, NC_000014.8:g.34413826=, 1629140, NC_000014.9:g.33944620=, rs17506218, 17506218, 60386310, NM_001308103.1:c.75+6058T>C +PA166154267 rs163182 PA223 KCNQ1 NC_000011.10:2822986 1 0 0 0 0 rs1182263, NC_000011.9:g.2844216=, 1182263, 163182, NC_000011.10:g.2822986G>A, 1176403, rs1176403, rs800638, NT_187585.1:g.55173G>C, NC_000011.10:g.2822986G>C, rs163182, 1182258, NG_008935.1:g.382996=, NM_181798.1:c.1414-24781G>C, rs1182258, rs776659, NM_000218.2:c.1795-24781G>C, 800638, NC_000011.9:g.2844216G>C, NR_040711.2:n.1688-24781G>C, NC_000011.9:g.2844216G>A, NG_008935.1:g.382996G>A, NG_008935.1:g.382996G>C, 776659, NC_000011.10:g.2822986= +PA166202681 rs163184 PA223 KCNQ1 NC_000011.10:2825839 3 0 0 0 0 rs163184, 163184, NC_000011.9:g.2847069=, NG_008935.1:g.385849T>C, 60105081, NC_000011.10:g.2825839=, NC_000011.9:g.2847069T>G, NG_008935.1:g.385849T>G, NC_000011.10:g.2825839T>G, NC_000011.9:g.2847069T>C, NC_000011.10:g.2825839T>C, NG_008935.1:g.385849= +PA166156987 rs1633021 NC_000006.12:29779092 1 0 0 0 0 rs9258316, NT_113891.2:g.1262980C>T, NT_167248.1:g.1047672T>C, NT_167249.1:g.1084540T=, 116419053, NT_167248.2:g.1042076T=, NC_000006.11:g.29746869T>C, NT_167244.2:g.1044924C>T, rs116419053, 9258316, NC_000006.11:g.29746869=, NT_167248.2:g.1042076T>C, rs117067370, NT_167247.2:g.1041743T=, NT_167249.1:g.1084540T>C, NC_000006.11:g.29746869T=, NT_167248.1:g.1047672T=, NT_167245.2:g.1042077T>C, NT_167247.1:g.1047328T>C, NT_167249.2:g.1085242T=, NT_167245.2:g.1042077T=, rs1633021, 1633021, NC_000006.12:g.29779092T>C, NT_113891.2:g.1262980C=, NT_167244.2:g.1044924C=, NT_167246.1:g.1047292T=, rs17178651, 17178651, NT_167245.1:g.1047662T>C, NT_113891.3:g.1262874C>T, NT_167244.1:g.1050518C>T, NT_167247.1:g.1047328T=, rs57842129, NT_167245.1:g.1047662T=, NT_167249.2:g.1085242T>C, NT_113891.3:g.1262874C=, 117067370, NT_167244.1:g.1050518C=, NT_167246.2:g.1041672T>C, NC_000006.12:g.29779092T=, NT_167246.2:g.1041672T=, NC_000006.12:g.29779092=, NT_167246.1:g.1047292T>C, NT_167247.2:g.1041743T>C, 57842129, NW_003871063.1:g.21101C>T, NW_003871063.1:g.21101C= +PA166227461 rs1634776 NC_000006.12:31341211 1 0 0 0 0 NC_000006.12:g.31341211C>T, NC_000006.11:g.31308988C>T, rs1634776, 78768188, 116261849, 9265801, NC_000006.12:g.31341211=, NC_000006.11:g.31308988=, 1634776 +PA166156768 rs1643650 PA143 DHFR NC_000005.10:80644324 1 1 0 0 0 rs1643650, NM_001290357.1:c.242+5065A>G, NR_110936.1:n.684+5065A>G, NG_023304.1:g.15658A>G, XM_005248456.1:c.86+5065A>G, 1643650, 59943495, NC_000005.9:g.79940143=, NM_000791.3:c.242+5065A>G, XM_005248455.1:c.131+5065A>G, NG_023304.1:g.15658=, NC_000005.10:g.80644324T>C, NC_000005.10:g.80644324=, rs59943495, NC_000005.9:g.79940143T>C, NM_001290354.1:c.86+5065A>G +PA166156769 rs1643657 PA143 DHFR NC_000005.10:80640598 1 0 0 0 0 59951426, NR_110936.1:n.685-6606A>G, XM_005248455.1:c.132-2589A>G, rs11566743, XM_005248456.1:c.87-2589A>G, NC_000005.9:g.79936417=, NG_023304.1:g.19384=, NC_000005.9:g.79936417T>C, 386540277, NM_001290357.1:c.243-2589A>G, 11566743, rs59951426, NG_023304.1:g.19384A>G, NM_001290354.1:c.87-2589A>G, NC_000005.10:g.80640598=, NC_000005.10:g.80640598T>C, NM_000791.3:c.243-2589A>G, rs1643657, rs386540277, 1643657 +PA166196262 rs1649942 PA31778 NRG3 NC_000010.11:82191935 1 0 0 0 0 NC_000010.10:g.83951691G>C, rs1649942, 1649942, NC_000010.10:g.83951691G>A, 17656372, NC_000010.10:g.83951691=, NC_000010.11:g.82191935=, NG_013373.1:g.321622=, 386540340, NC_000010.11:g.82191935G>A, NG_013373.1:g.321622G>A, 61662155, NC_000010.11:g.82191935G>C, NG_013373.1:g.321622G>C +PA166156770 rs1650697 PA143,PA31134 DHFR,MSH3 NC_000005.10:80654962 3 1 0 0 0 61225035, NG_016607.2:g.5488A>T, NM_002439.4:c.235A>G, 17352726, NC_000005.10:g.80654962A>G, NC_000005.10:g.80654962A>C, NG_016607.1:g.5488A>G, rs61225035, NG_016607.2:g.5488=, NC_000005.10:g.80654962A>T, NR_110936.1:n.20T>C, NG_016607.1:g.5488=, rs17352726, NM_000791.3:c.-473T>C, NG_016607.1:g.5488A>C, NG_016607.1:g.5488A>T, XM_005248456.1:c.-579T>C, NG_023304.1:g.5020T>G, NC_000005.10:g.80654962=, NC_000005.9:g.79950781A>T, NG_023304.1:g.5020=, rs1650697, 1650697, NP_002430.3:p.Ile79Leu, NC_000005.9:g.79950781A>G, NG_016607.2:g.5488A>G, NC_000005.9:g.79950781=, NP_002430.3:p.Ile79Val, NC_000005.9:g.79950781A>C, NP_002430.3:p.Ile79=, NG_016607.2:g.5488A>C, NG_023304.1:g.5020T>C, NM_001290354.1:c.-579T>C, NG_023304.1:g.5020T>A, XM_005248455.1:c.-930T>C, NM_001290357.1:c.-473T>C +PA166156771 rs1650723 PA143 DHFR NC_000005.10:80626211 1 1 0 0 0 1650723, NG_023304.1:g.33771G>A, NR_110936.1:n.3755G>A, NC_000005.9:g.79922030=, 17790092, NM_001290357.1:c.*2934G>A, 386540357, rs1650723, NC_000005.10:g.80626211C>T, rs17790092, NC_000005.10:g.80626211=, NC_000005.9:g.79922030C>T, NM_000791.3:c.*2876G>A, rs386540357, XM_005248455.1:c.*2876G>A, NG_023304.1:g.33771=, NM_001290354.1:c.*2876G>A, XM_005248456.1:c.*2876G>A +PA166285941 rs1653586 PA26052 CAMKK2 NC_000012.12:121237772 1 0 0 0 0 59724137, NC_000012.12:g.121237772=, rs1653586, NG_029409.1:g.65537C>A, NC_000012.11:g.121675575=, 1653586, NC_000012.12:g.121237772G>T, NC_000012.11:g.121675575G>T, 17466906, NG_029409.1:g.65537= +PA166156046 rs165599 PA25018,PA117 ARVCF,COMT NC_000022.11:19969258 6 2 0 0 0 NC_000022.11:g.19969258=, NG_023326.1:g.52529C>T, NM_001135162.1:c.*522G>A, rs165599, NC_000022.11:g.19969258G>A, 165599, NC_000022.11:g.19969258G>C, NM_001135161.1:c.*522G>A, NM_000754.3:c.*522G>A, NG_023326.1:g.52529=, NG_011526.1:g.32519G>A, NG_011526.1:g.32519G>C, NM_007310.2:c.*522G>A, NC_000022.10:g.19956781G>A, XM_005261242.1:c.2764-2049C>T, 58966983, XM_011529886.1:c.*522G>A, XM_011530182.1:c.1348-2049C>T, XM_006724243.1:c.2782-2049C>T, XM_011530179.1:c.2749-2049C>T, NC_000022.10:g.19956781G>C, NG_023326.1:g.52529C>G, rs58966983, XM_006724246.2:c.2536-2049C>T, NC_000022.10:g.19956781=, NG_011526.1:g.32519=, XM_005261229.1:c.*522G>A +PA166155640 rs1656402 PA27720,PA38382 EIF4E2,TIGD1 NC_000002.12:232561816 1 0 0 0 0 XM_005246974.1:c.271-2431C>T, rs386540451, NM_001276336.1:c.271-2431C>T, NM_001282958.1:c.271-2431C>T, NC_000002.12:g.232561816C>T, rs2343840, 2343840, XM_011512206.1:c.256-2431C>T, 386540451, NC_000002.12:g.232561816=, NC_000002.11:g.233426526=, 1656402, XM_005246976.1:c.136-2431C>T, NM_004846.3:c.271-2431C>T, rs1656402, NM_001276337.1:c.136-2431C>T, XM_005246973.1:c.271-2431C>T, XM_005246975.1:c.136-2431C>T, NC_000002.11:g.233426526C>T, XM_005246975.2:c.136-2431C>T +PA166156325 rs1656930 PA134933118 ADIPOQ NC_000003.12:186835068 1 0 0 0 0 NC_000003.11:g.186552857A>T, NC_000003.12:g.186835068A>C, 1656930, NC_000003.12:g.186835068=, NC_000003.11:g.186552857=, 59137900, NC_000003.11:g.186552857A>C, rs59137900, NC_000003.11:g.186552857A>G, rs1656930, rs4505690, 6444168, NC_000003.12:g.186835068A>G, 4505690, rs6444168, NC_000003.12:g.186835068A>T +PA166180045 rs165722 PA117 COMT NC_000022.11:19961490 1 0 0 0 0 NG_011526.1:g.24751=, 60424305, NG_011526.1:g.24751C>T, 165722, rs165722, NC_000022.11:g.19961490=, NC_000022.10:g.19949013=, NC_000022.10:g.19949013C>T, NC_000022.11:g.19961490C>T +PA166156047 rs165728 PA25018,PA117 ARVCF,COMT NC_000022.11:19969500 1 0 0 0 0 XM_006724245.2:c.*1217G>A, XM_011530182.1:c.1348-2291G>A, XM_005261243.1:c.*1256G>A, rs59845570, NG_023326.1:g.52287G>T, NG_011526.1:g.32761C>A, NM_007310.2:c.*764C>T, NG_011526.1:g.32761C>G, NG_011526.1:g.32761C>T, XM_011530183.1:c.*1217G>A, NM_001670.2:c.*877+379G>A, XM_005261244.3:c.*1217G>A, NG_023326.1:g.52287G>C, NG_023326.1:g.52287G>A, XR_937863.1:n.4112G>A, XM_011530179.1:c.2749-2291G>A, NC_000022.11:g.19969500C>T, NC_000022.11:g.19969500=, 165728, XM_006724243.1:c.2782-2291G>A, XM_011529886.1:c.*764C>T, XM_006724246.2:c.2536-2291G>A, NM_001135162.1:c.*764C>T, NC_000022.10:g.19957023=, NG_011526.1:g.32761=, XM_005261242.1:c.2764-2291G>A, NC_000022.10:g.19957023C>A, NM_000754.3:c.*764C>T, rs165728, XM_005261229.1:c.*764C>T, XM_005261244.1:c.*1217G>A, NC_000022.11:g.19969500C>A, XM_006724248.2:c.*1256G>A, NG_023326.1:g.52287=, NC_000022.11:g.19969500C>G, NC_000022.10:g.19957023C>G, NM_001135161.1:c.*764C>T, NM_001670.2:c.*1256G>A, XM_005261243.3:c.*1256G>A, NC_000022.10:g.19957023C>T, XM_006724247.2:c.*1256G>A, 59845570 +PA166178598 rs165774 PA117 COMT NC_000022.11:19965038 1 0 0 0 0 NG_011526.1:g.28299=, 59344350, NG_011526.1:g.28299G>A, rs165774, NC_000022.11:g.19965038=, 165774, NC_000022.10:g.19952561G>A, NC_000022.10:g.19952561=, NC_000022.11:g.19965038G>A +PA166160239 rs165815 PA25018 ARVCF NC_000022.11:19971950 1 0 0 0 0 NC_000022.10:g.19959473C>A, NC_000022.10:g.19959473=, 165815, NG_011526.1:g.35211C>G, 56788245, rs165815, NG_011526.1:g.35211C>A, 1135978, NG_011526.1:g.35211C>T, 117266667, NP_001661.1:p.Arg906Gln, NP_001661.1:p.Arg906Pro, NC_000022.10:g.19959473C>G, NG_023326.1:g.49837=, NC_000022.11:g.19971950C>A, NC_000022.11:g.19971950C>G, NG_023326.1:g.49837G>A, NG_011526.1:g.35211=, NG_023326.1:g.49837G>C, NP_001661.1:p.Arg906Leu, 386450239, NC_000022.10:g.19959473C>T, NC_000022.11:g.19971950C>T, NP_001661.1:p.Arg906=, 16982853, NC_000022.11:g.19971950=, NG_023326.1:g.49837G>T +PA166156048 rs165854 PA162399305 PI4KA NC_000022.11:20813499 1 0 0 0 0 1210480, 534162, NG_033052.1:g.50314C>T, XM_011530227.1:c.948C>T, XP_011528530.1:p.Cys316=, rs1210480, 165854, rs165854, NM_058004.3:c.864C>T, NP_477352.3:p.Cys288=, NC_000022.10:g.21167787G>A, XM_005261636.1:c.948C>T, rs534162, XM_011530226.1:c.948C>T, NC_000022.10:g.21167787=, NG_033052.1:g.50314=, NC_000022.11:g.20813499G>A, XP_005261693.1:p.Cys316=, 59270229, XP_005261692.1:p.Cys316=, XP_005261691.1:p.Cys316=, rs17820235, NG_033052.2:g.50314=, XM_005261634.1:c.948C>T, XP_011528529.1:p.Cys316=, rs59270229, XM_005261635.1:c.948C>T, XM_011530228.1:c.948C>T, XP_011528528.1:p.Cys316=, 17820235, NG_033052.2:g.50314C>T, XR_937868.1:n.951C>T, NC_000022.11:g.20813499= +PA166155369 rs1661167 NC_000019.10:44548749 1 0 0 0 0 NC_000019.10:g.44548749A>C, 386540506, NC_000019.9:g.45052068G>T, 57455473, rs111180091, 60630023, NC_000019.10:g.44548749=, NC_000019.10:g.44548749A>T, rs386540506, NC_000019.9:g.45052068G>A, 1661167, rs1661167, NC_000019.9:g.45052068G>C, rs57455473, NC_000019.10:g.44548749A>G, 111180091, NR_027754.2:n.498+149C>T, NR_027754.2:n.498+149T>C, rs60630023 +PA166156519 rs1662060 PA24572 ADH1C NC_000004.12:99338684 1 0 0 0 0 rs1662060, NC_000004.11:g.100259841T>C, NC_000004.12:g.99338684=, NC_000004.12:g.99338684T>C, NC_000004.11:g.100259841=, NM_000669.4:c.1103+893A>G, XM_011531588.1:c.1001+893A>G, NG_011718.1:g.19077=, NG_011718.1:g.19077A>G, NR_133005.1:n.1429+893A>G, XM_011531589.1:c.983+893A>G, 1662060 +PA166154783 rs1663330 NC_000014.9:65976778 1 1 0 0 0 NC_000014.9:g.65976778=, NC_000014.9:g.65976778A>G, rs1663330, rs61624486, 1663330, 61624486, NC_000014.8:g.66443496A>G, NC_000014.8:g.66443496= +PA166154784 rs1663332 NC_000014.9:65977626 1 1 0 0 0 NC_000014.8:g.66444344C>A, rs1663332, 1663332, NC_000014.9:g.65977626=, NC_000014.9:g.65977626C>A, NC_000014.8:g.66444344C>T, NC_000014.9:g.65977626C>G, NC_000014.9:g.65977626C>T, NC_000014.8:g.66444344C>G, 57877939, NC_000014.8:g.66444344=, rs57877939 +PA166294441 rs1671424148 PA145 DPYD NC_000001.11:97373608 1 0 0 0 0 NC_000001.11:g.97373608A>G, NG_008807.2:g.552452=, rs1671424148, NC_000001.11:g.97373608=, NC_000001.10:g.97839164A>G, NP_000101.2:p.Cys671Arg, 1671424148, NP_000101.2:p.Cys671=, NG_008807.2:g.552452T>C, NC_000001.10:g.97839164= +PA166180012 rs1672717 PA29556 HTR3B NC_000011.10:113942011 1 0 0 0 0 NC_000011.10:g.113942011G>T, 56723625, NG_011483.1:g.42145G>T, NC_000011.10:g.113942011=, NC_000011.9:g.113812733=, NG_011483.1:g.42145=, 1672717, NC_000011.9:g.113812733G>C, NG_011483.1:g.42145G>A, rs1672717, NC_000011.9:g.113812733G>A, NC_000011.10:g.113942011G>A, NC_000011.10:g.113942011G>C, NG_011483.1:g.42145G>C, NC_000011.9:g.113812733G>T +PA166154266 rs16754 PA37395 WT1 NC_000011.10:32396399 1 0 0 0 0 NC_000011.10:g.32396399T>C, NM_001198551.1:c.471A>G, NC_000011.10:g.32396399T>G, NM_024426.4:c.1107A>G, XP_005253177.1:p.Arg284=, NG_009272.1:g.44143A>C, NP_077742.2:p.Arg369=, rs17859011, NG_009272.1:g.44143A>G, rs59880152, NP_001185481.1:p.Arg140=, NC_000011.10:g.32396399T>A, NP_001185480.1:p.Arg157=, 16754, 59880152, rs117092049, 5030275, NC_000011.9:g.32417945T>C, NP_077744.3:p.Arg369=, NM_024424.3:c.1107A>G, NM_024426.3:c.1107A>G, NC_000011.9:g.32417945T>A, NP_077744.4:p.Arg374=, rs17846027, XM_005253120.1:c.852A>G, NM_000378.4:c.1056A>G, NG_009272.1:g.44143=, 386540677, rs5030275, 117092049, NC_000011.10:g.32396399=, NP_000369.3:p.Arg352=, 17846027, NC_000011.9:g.32417945=, NG_009272.1:g.44143A>T, rs386540677, NC_000011.9:g.32417945T>G, rs16754, NM_001198552.1:c.420A>G, 17859011 +PA166176331 rs167769 PA339 STAT6 NC_000012.12:57109992 2 0 0 0 0 840314, 864549, 17450135, 841719, rs167769, NG_021272.2:g.27148=, 61135047, NG_021272.1:g.6422G>A, NC_000012.12:g.57109992C>T, 167769, NC_000012.11:g.57503775=, NG_021272.1:g.6422=, NC_000012.11:g.57503775C>T, 864564, NC_000012.12:g.57109992=, NG_021272.2:g.27148G>A +PA166156279 rs167770 PA27479 DRD3 NC_000003.12:114160715 1 1 0 0 0 XM_011512511.1:c.271-848C>T, NG_008842.2:g.43693=, rs56619079, NG_008842.2:g.43693C>G, NC_000003.11:g.113879562G>C, NC_000003.11:g.113879562G>A, rs1261958, XM_011512512.1:c.271-848C>T, NM_001290809.1:c.271-848C>T, NC_000003.12:g.114160715G>C, NC_000003.11:g.113879562=, NC_000003.12:g.114160715G>A, rs61125319, XM_005247171.1:c.271-848C>T, 61125319, XM_005247170.1:c.271-848C>T, 167770, 1261958, 56619079, NM_001282563.2:c.271-848C>T, XM_011512510.1:c.271-848C>T, NM_000796.5:c.271-848C>T, NM_033663.5:c.271-848C>T, rs167770, NG_008842.2:g.43693C>T, NC_000003.12:g.114160715= +PA166156280 rs167771 PA27479 DRD3 NC_000003.12:114157428 2 1 0 0 0 NC_000003.12:g.114157428G>A, rs167771, XM_011512511.1:c.383+2327C>T, NG_008842.2:g.46980C>G, NC_000003.11:g.113876275G>C, rs59234015, NC_000003.11:g.113876275=, NM_033663.5:c.383+2327C>T, NG_008842.2:g.46980C>A, XM_011512512.1:c.383+2327C>T, NC_000003.12:g.114157428=, NM_001282563.2:c.383+2327C>T, NC_000003.11:g.113876275G>T, NC_000003.12:g.114157428G>C, NM_000796.5:c.383+2327C>T, 59234015, XM_005247170.1:c.383+2327C>T, XM_011512510.1:c.383+2327C>T, 167771, NC_000003.12:g.114157428G>T, XM_005247171.1:c.383+2327C>T, NG_008842.2:g.46980=, NC_000003.11:g.113876275G>A, NM_001290809.1:c.383+2327C>T, NG_008842.2:g.46980C>T +PA166154701 rs1678387 PA397 ABCC4 NC_000013.11:95065652 1 1 0 0 0 NM_005845.4:c.3211-2793A>G, rs57644740, NG_050651.1:g.240795=, NG_050651.1:g.240795A>G, NC_000013.11:g.95065652T>A, XM_005254025.2:c.3082-2793A>G, NC_000013.11:g.95065652T>C, XM_011521047.1:c.2662-2793A>G, NC_000013.11:g.95065652=, NC_000013.10:g.95717906=, XM_006719914.1:c.3121-2793A>G, 57644740, rs1678387, 1678387, XM_005254026.1:c.3070-2793A>G, NG_050651.1:g.240795A>T, XM_005254025.1:c.3082-2793A>G, NC_000013.10:g.95717906T>A, NC_000013.10:g.95717906T>C, XM_005254027.1:c.2986-2793A>G, NM_001301829.1:c.3070-2793A>G +PA166203143 rs1678396 PA397 ABCC4 NC_000013.11:95156694 1 0 0 0 0 rs1678396, NG_050651.1:g.149753=, 1678396, NC_000013.10:g.95808948A>G, NC_000013.10:g.95808948=, NC_000013.11:g.95156694=, NG_050651.1:g.149753T>C, 57583967, NC_000013.11:g.95156694A>G +PA166206601 rs168107 PA142672105 CLCC1 NC_000001.11:108937356 1 1 0 0 0 NC_000001.11:g.108937356=, NC_000001.11:g.108937356G>C, rs168107, NC_000001.10:g.109479978G>C, NP_055942.1:p.Ser318=, 118060800, NP_055942.1:p.Ser318Arg, 52797843, 168107, 17565258, NC_000001.11:g.108937356G>T, NC_000001.10:g.109479978G>T, 60258424, NC_000001.10:g.109479978= +PA166179015 rs16830505 PA378 NR1I2 NC_000003.12:119796221 1 0 0 0 0 58881522, 16830505, NC_000003.12:g.119796221=, NC_000003.12:g.119796221A>G, NC_000003.11:g.119515068=, NC_000003.11:g.119515068A>G, rs16830505, NG_011856.1:g.20738=, NG_011856.1:g.20738A>G +PA166157702 rs168351 PA24692 ALDH1A1 NC_000009.12:72902395 1 0 0 0 0 rs635555, NC_000009.12:g.72902395A>G, 168351, NG_012249.1:g.55659T>C, XM_005251801.1:c.1374-1115T>C, XM_005251800.1:c.1434-1115T>C, 635555, NG_012249.1:g.55659=, NC_000009.12:g.72902395=, NC_000009.11:g.75517311A>G, NM_000689.4:c.1434-1115T>C, rs2183402, rs168351, 2183402, NC_000009.11:g.75517311= +PA166176344 rs16840252 PA27006 CTLA4 NC_000002.12:203866796 1 0 0 0 0 60723470, NC_000002.11:g.204731519C>T, NG_011502.1:g.4011=, NC_000002.12:g.203866796C>T, NC_000002.11:g.204731519=, NG_011502.1:g.4011C>T, NC_000002.12:g.203866796=, 16840252, rs16840252 +PA166156457 rs16846673 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151337857 2 0 0 0 0 XM_011512390.1:c.2146-12202T>C, XM_005247096.1:c.2251-12202T>C, NG_016019.1:g.51900A>G, NG_021244.1:g.255970T>C, XM_011512387.1:c.2251-12202T>C, NC_000003.11:g.151055645=, XM_011512394.1:c.2251-12202T>C, XM_011512391.1:c.1981-12202T>C, 52796515, 16846673, NP_073625.1:p.Glu330Gly, XM_011512392.1:c.1795-12202T>C, NM_176876.2:c.989A>G, NG_021244.1:g.255970=, XM_006713487.2:c.2251-12202T>C, XM_011512395.1:c.2251-12202T>C, XM_011512389.1:c.2146-12202T>C, XM_011512396.1:c.676-12202T>C, rs16846673, XM_011512388.1:c.2251-12202T>C, NC_000003.12:g.151337857T>C, NC_000003.11:g.151055645T>C, NG_016019.1:g.51900=, XM_011512386.1:c.2251-12202T>C, XM_011512393.1:c.2251-12202T>C, 56915269, NP_073625.1:p.Glu330=, NM_053002.5:c.2146-12202T>C, rs56915269, NC_000003.12:g.151337857=, XM_011512399.1:c.2251-12202T>C, NM_022788.4:c.989A>G, XM_011512398.1:c.46-12202T>C, NP_795345.1:p.Glu330Gly, rs52796515 +PA166156665 rs16849146 NC_000004.12:73037959 1 0 0 0 0 rs59082158, NC_000004.11:g.73903676=, 59082158, NC_000004.11:g.73903676T>C, NC_000004.12:g.73037959T>C, 16849146, NC_000004.12:g.73037959=, rs16849146 +PA166153865 rs16851030 PA24583,PA31352 ADORA1,MYBPH NC_000001.11:203166324 2 1 0 0 0 58133030, XM_011509203.1:c.*424C>T, NG_052917.1:g.43620C>G, XM_011509204.1:c.*424C>T, 16851030, NC_000001.10:g.203135452=, XM_005244903.1:c.*424C>T, NC_000001.11:g.203166324=, NC_000001.10:g.203135452C>G, XM_005244902.3:c.*424C>T, XM_005244899.1:c.*424C>T, NG_052917.1:g.43620=, NC_000001.11:g.203166324C>T, NM_000674.2:c.*424C>T, rs58133030, rs16851030, NM_001048230.1:c.*424C>T, NG_052917.1:g.43620C>T, NC_000001.10:g.203135452C>T, XM_005244902.1:c.*424C>T, XM_005244900.1:c.*424C>T, XM_005244901.1:c.*424C>T, NC_000001.11:g.203166324C>G +PA166155836 rs16853826 PA25094 ATIC NC_000002.12:215340444 1 1 0 0 0 NM_004044.6:c.1227+1537G>A, rs16853826, NC_000002.11:g.216205167G>A, NG_013002.1:g.33489G>A, NG_013002.1:g.33489=, 60936288, 16853826, NC_000002.12:g.215340444G>A, rs60936288, NC_000002.12:g.215340444=, NC_000002.11:g.216205167= +PA166155837 rs16853834 PA25094 ATIC NC_000002.12:215345513 2 0 0 0 0 NC_000002.12:g.215345513C>T, NC_000002.11:g.216210236C>T, 16853834, rs16853834, NC_000002.11:g.216210236=, NM_004044.6:c.1320+642C>T, rs58088616, NG_013002.1:g.38558C>T, 58088616, NC_000002.12:g.215345513=, NG_013002.1:g.38558= +PA166155838 rs16855294 NC_000002.12:168343185 1 0 0 0 0 XR_923557.1:n.112+872G>T, XR_923558.1:n.102+882G>T, NC_000002.11:g.169199695C>A, 16855294, NC_000002.12:g.168343185C>T, NC_000002.12:g.168343185=, XR_923556.1:n.602+382G>T, NC_000002.12:g.168343185C>A, rs57117765, rs16855294, NC_000002.11:g.169199695C>T, 57117765, NC_000002.11:g.169199695= +PA166156458 rs16857540 PA31647 NLGN1 NC_000003.12:174182785 1 0 0 0 0 NC_000003.11:g.173900575=, NC_000003.12:g.174182785C>T, 16857540, NG_046919.1:g.791296C>G, 59949065, XM_011512551.1:c.707-92530C>G, XM_011512554.1:c.-270+46205C>G, rs16857540, XM_011512553.1:c.-297+46205C>G, NG_046919.1:g.791296C>T, XM_005247235.1:c.647-92530C>G, rs59949065, NG_046919.2:g.791887C>T, NC_000003.12:g.174182785=, rs56587723, XM_005247235.2:c.647-92530C>G, XM_005247236.1:c.647-92530C>G, NM_014932.3:c.647-92530C>G, XM_005247237.2:c.191-92530C>G, NC_000003.11:g.173900575C>T, NG_046919.2:g.791887C>G, 56587723, XM_005247232.1:c.707-92530C>G, XM_006713540.2:c.707-92530C>G, 61398694, NC_000003.12:g.174182785C>G, XM_005247234.1:c.647-92530C>G, rs61398694, NC_000003.11:g.173900575C>G, XM_005247233.1:c.707-92530C>G, XM_011512552.1:c.707-92530C>G, NG_046919.2:g.791887=, XM_005247231.1:c.767-92530C>G, XM_005247237.1:c.191-92530C>G, NG_046919.1:g.791296= +PA166156666 rs16860087 PA28495 GABRB1 NC_000004.12:47227230 1 0 0 0 0 NC_000004.12:g.47227230C>A, XM_005248081.1:c.461+65761C>A, NM_000812.3:c.461+65761C>A, NC_000004.11:g.47229247=, NG_051831.1:g.200953=, NG_051831.1:g.200953C>A, XM_011513678.1:c.440+65761C>A, rs16860087, 16860087, NC_000004.11:g.47229247C>A, NC_000004.12:g.47227230= +PA166156459 rs16861194 PA134933118 ADIPOQ NC_000003.12:186841636 1 0 0 0 0 59520866, NG_021140.1:g.3963A>G, NG_044949.1:g.1727=, rs16861194, NC_000003.12:g.186841636A>G, XM_011513324.1:c.-1238A>G, rs28973159, NC_000003.11:g.186559425A>G, rs59520866, NM_001177800.1:c.-1173A>G, NG_021140.1:g.3963=, 16861194, NG_044949.1:g.1727A>G, NC_000003.11:g.186559425=, 28973159, NC_000003.12:g.186841636=, NM_004797.3:c.-1122A>G +PA166156460 rs16861210 PA134933118 ADIPOQ NC_000003.12:186848709 1 0 0 0 0 NG_021140.1:g.11036G>A, NC_000003.11:g.186566498G>A, NG_044949.1:g.8800G>A, NC_000003.11:g.186566498=, NM_001177800.1:c.-9+3102G>A, 16861210, NG_021140.1:g.11036=, NC_000003.12:g.186848709=, XM_011513324.1:c.-124-2397G>A, NG_044949.1:g.8800=, NM_004797.3:c.-8-4342G>A, rs16861210, NC_000003.12:g.186848709G>A +PA166162481 rs16863323 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151342280 1 0 0 0 0 NG_021244.1:g.260393C>A, NG_016019.1:g.47477G>A, NC_000003.11:g.151060068=, NC_000003.12:g.151342280C>T, NC_000003.12:g.151342280=, 59060877, NC_000003.12:g.151342280C>A, NG_016019.1:g.47477G>T, NC_000003.11:g.151060068C>T, 16863323, 61131023, 56645385, NG_016019.1:g.47477=, NG_021244.1:g.260393C>T, NC_000003.11:g.151060068C>A, rs16863323, NG_021244.1:g.260393= +PA166162323 rs16863336 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151360130 1 0 0 0 0 56552998, NC_000003.12:g.151360130C>T, NG_021244.1:g.278243=, NC_000003.11:g.151077918=, 59002418, 16863336, 59895110, NG_021244.1:g.278243C>T, NC_000003.12:g.151360130=, NG_016019.1:g.29627G>A, NC_000003.11:g.151077918C>T, NG_016019.1:g.29627=, rs16863336 +PA166162305 rs16863356 PA134884590 MED12L NC_000003.12:151389684 1 0 0 0 0 NC_000003.11:g.151107472=, NC_000003.12:g.151389684G>A, NG_021244.1:g.307797G>A, NG_021244.1:g.307797=, 60034389, NC_000003.11:g.151107472G>A, NC_000003.12:g.151389684=, NG_016019.1:g.73=, rs16863356, 16863356, NG_016019.1:g.73C>T +PA166156667 rs16870989 PA134893552 KCNIP4 NC_000004.12:21385141 2 1 0 0 0 XM_011513886.1:c.62-534474A>T, XM_011513885.1:c.88+312209A>T, NC_000004.11:g.21386764T>C, NG_052969.1:g.568611A>G, NM_001035004.1:c.-24+159249A>T, NC_000004.11:g.21386764T>A, NM_147181.3:c.62-534474A>T, rs16870989, NM_001035003.1:c.88+312209A>T, NC_000004.12:g.21385141T>A, NG_052969.1:g.568611=, NM_025221.5:c.62-502432A>T, XM_011513887.1:c.-24+159249A>T, NC_000004.12:g.21385141T>C, NG_052969.1:g.568611A>T, XM_011513888.1:c.-24+377780A>T, XM_005248191.1:c.62-534474A>T, XM_011513882.1:c.62-502432A>T, NM_147182.3:c.-24+377780A>T, NC_000004.12:g.21385141=, 16870989, NC_000004.11:g.21386764= +PA166157185 rs16871297 NC_000006.12:32982440 1 0 0 0 0 NT_113891.3:g.4394653A>G, NG_042801.1:g.18781A>G, NC_000006.12:g.32982440=, NC_000006.12:g.32982440A>G, NT_167248.1:g.4182354A>G, rs56926123, NC_000006.11:g.32950217A>G, NC_000006.11:g.32950217=, NT_167246.1:g.4407438A>G, NT_167249.1:g.4430995A>G, NG_042801.1:g.18781=, rs16871297, NT_167248.2:g.4176758A>G, NT_167246.2:g.4401818A>G, 115470495, NT_167245.2:g.4225974A>G, NT_167249.2:g.4431697A>G, NT_167245.1:g.4231559A>G, rs118166318, 16871297, 56926123, rs115470495, NT_113891.2:g.4394759A>G, 118166318 +PA166223622 rs16871327 NC_000006.12:93423836 1 0 0 0 0 NC_000006.12:g.93423836=, NG_033944.1:g.747T>A, rs16871327, NC_000006.12:g.93423836A>T, NC_000006.11:g.94133554=, NC_000006.11:g.94133554A>T, 16871327, NG_033944.1:g.747= +PA166156881 rs16871471 PA162381084 CARTPT NC_000005.10:71722730 2 0 0 0 0 NG_015988.1:g.8568=, NG_015988.1:g.8568A>T, NC_000005.10:g.71722730A>T, 16871471, NC_000005.9:g.71018557A>T, rs57016258, NC_000005.9:g.71018557=, rs16871471, 57016258, NC_000005.10:g.71722730= +PA166185406 rs16872401 NC_000005.10:42194757 2 1 0 0 0 rs16872401, NC_000005.10:g.42194757=, NC_000005.9:g.42194859=, NC_000005.9:g.42194859T>C, NC_000005.10:g.42194757T>C, 56973385, 16872401 +PA166160113 rs16872488 PA38657 GLCCI1 NC_000007.14:8070767 1 0 0 0 0 NC_000007.13:g.8110397=, NG_032073.1:g.107024A>C, 58771168, NG_032073.1:g.107024A>G, NC_000007.13:g.8110397A>G, NC_000007.14:g.8070767=, NC_000007.14:g.8070767A>G, NC_000007.13:g.8110397A>C, rs16872488, 16872488, NC_000007.14:g.8070767A>C, NG_032073.1:g.107024= +PA166157467 rs16873129 PA134902361 RAPGEF5 NC_000007.14:22105466 1 1 0 0 0 rs16873129, 16873129, NC_000007.13:g.22145084=, rs61378506, NC_000007.13:g.22145084T>C, NC_000007.14:g.22105466T>C, 61378506, NC_000007.14:g.22105466= +PA166157735 rs1687390 PA260,PA32818 ORM1,ORM2 NC_000009.12:114327608 1 0 0 0 0 rs1687390, 1687390, NC_000009.12:g.114327608=, NC_000009.11:g.117089888G>A, NG_012108.1:g.9586G>A, NG_012108.1:g.9586=, NC_000009.12:g.114327608G>A, NC_000009.11:g.117089888= +PA166257282 rs168753 PA27946 F2R NC_000005.10:76732299 1 0 0 0 0 rs168753, NG_032906.1:g.21257A>T, NC_000005.9:g.76028124=, 1301128, NC_000005.10:g.76732299A>G, NC_000005.9:g.76028124A>G, 168790, NG_032906.1:g.21257=, 3822549, 61280691, 168753, NC_000005.10:g.76732299A>T, NG_032906.1:g.21257A>G, NC_000005.10:g.76732299=, 74290953, NC_000005.9:g.76028124A>T +PA166156882 rs16886403 PA30592 MAP3K1 NC_000005.10:56843419 1 1 0 0 0 XM_011543407.1:c.483-13181T>C, 16886403, rs58749465, rs57623389, NC_000005.9:g.56139246=, 57623389, NC_000005.9:g.56139246T>C, NC_000005.10:g.56843419=, XM_011543408.1:c.483-13181T>C, NG_031884.1:g.33347T>C, NG_031884.1:g.33347=, NM_005921.1:c.483-13181T>C, NC_000005.10:g.56843419T>C, 58749465, XM_005248519.3:c.105-13181T>C, rs16886403, XM_005248519.1:c.72-13181T>C, XM_005248520.1:c.-7-13181T>C, XM_011543406.1:c.228-13181T>C +PA166157648 rs16889462 PA134915546 SLC30A8 NC_000008.11:117172545 1 0 0 0 0 NP_776250.2:p.Arg325Pro, NP_776250.2:p.Arg325Gln, XP_011515183.1:p.Arg325Gln, NG_016991.1:g.227273G>T, NP_001166285.1:p.Arg276Gln, XM_011516881.1:c.974G>A, XR_928569.1:n.1020+70C>T, NC_000008.11:g.117172545=, XP_011515184.1:p.Arg276Gln, NC_000008.10:g.118184784G>C, NC_000008.10:g.118184784G>A, XP_005250866.1:p.Arg276Gln, NM_001172813.1:c.827G>A, 16889462, NM_001172814.1:c.827G>A, NC_000008.11:g.117172545G>T, NM_001172815.2:c.827G>A, NM_173851.2:c.974G>A, NP_001166284.1:p.Arg276Gln, XM_005250809.1:c.827G>A, NC_000008.10:g.118184784G>T, rs16889462, NC_000008.10:g.118184784=, NP_776250.2:p.Arg325=, NM_001172815.1:c.827G>A, NG_016991.1:g.227273=, NP_001166286.1:p.Arg276Gln, NC_000008.11:g.117172545G>C, NM_001172811.1:c.827G>A, NC_000008.11:g.117172545G>A, NP_776250.2:p.Arg325Leu, NG_016991.1:g.227273G>A, XR_928570.1:n.1020+70C>T, NG_016991.1:g.227273G>C, NP_001166282.1:p.Arg276Gln, XM_011516882.1:c.827G>A +PA166156668 rs16890979 PA37771 SLC2A9 NC_000004.12:9920543 1 0 0 0 0 XM_011513863.1:c.448G>A, NP_064425.2:p.Val282=, XM_006713968.2:c.844G>A, XM_011513859.1:c.844G>A, XM_011513864.1:c.436G>A, NM_001001290.1:c.757G>A, XP_011512163.1:p.Val282Ile, XP_011512168.1:p.Val282Ile, NG_011540.1:g.124706=, 52793226, XM_011513857.1:c.757G>A, XM_011513865.1:c.844G>A, XP_006714031.1:p.Val282Ile, XM_005248176.1:c.757G>A, XP_011512161.1:p.Val282Ile, XP_011512169.1:p.Val96Ile, XP_011512158.1:p.Val282Ile, NG_011540.1:g.124706G>A, XP_011512160.1:p.Val253Ile, XM_011513858.1:c.757G>A, NC_000004.12:g.9920543C>T, XP_011512170.1:p.Val282Ile, XM_011513866.1:c.844G>A, NM_020041.2:c.844G>A, XP_006714032.1:p.Val253Ile, XM_011513856.1:c.844G>A, 16890979, XP_011512164.1:p.Val150Ile, NP_064425.2:p.Val282Ile, XP_011512159.1:p.Val253Ile, XP_011512162.1:p.Val282Ile, NP_001001290.1:p.Val253Ile, XM_011513861.1:c.844G>A, XM_011513862.1:c.448G>A, NC_000004.12:g.9920543=, XM_011513867.1:c.286G>A, XM_011513868.1:c.844G>A, XR_925341.1:n.940G>A, XM_006713969.2:c.757G>A, XP_011512166.1:p.Val146Ile, XP_011512167.1:p.Val282Ile, rs16890979, XP_011512165.1:p.Val150Ile, NC_000004.11:g.9922167C>T, XP_005248233.1:p.Val253Ile, NC_000004.11:g.9922167=, rs52793226, XM_011513860.1:c.844G>A +PA166176136 rs168924 PA310 SLC6A2 NC_000016.10:55655632 1 0 0 0 0 NG_016969.1:g.5003=, NC_000016.9:g.55689544A>G, NG_016969.1:g.5003A>G, 57782505, 168924, NC_000016.10:g.55655632A>G, rs168924, NC_000016.9:g.55689544=, NC_000016.10:g.55655632= +PA166156669 rs16892645 PA134880558 FGFBP1 NC_000004.12:15936769 1 0 0 0 0 NC_000004.11:g.15938392=, NC_000004.11:g.15938392C>T, rs16892645, 61512194, NC_000004.12:g.15936769C>T, NM_005130.4:c.-20-117G>A, rs61512194, 16892645, NC_000004.12:g.15936769= +PA166344461 rs16906115 PA29839 IL7 NC_000008.11:78800763 5 1 0 0 0 rs16906115, NC_000008.11:g.78800763=, 16906115, NC_000008.11:g.78800763G>A, NC_000008.10:g.79712998=, NC_000008.10:g.79712998G>A +PA166159981 rs1690924 PA30718 MDM2 NC_000012.12:68811541 2 1 0 0 0 3730505, NC_000012.12:g.68811541T>C, NC_000012.11:g.69205321T>C, NC_000012.12:g.68811541=, NC_000012.11:g.69205321=, NG_016708.1:g.8351=, NG_016708.1:g.8351T>C, rs1690924, 1690924 +PA166154469 rs16909440 PA32402,PA32403 OR52E1,OR52E2 NC_000011.10:5059614 1 1 0 0 0 NM_001005164.2:c.14A>G, NC_000011.9:g.5080844T>C, NP_001005164.2:p.Asn5Ser, rs52834501, NC_000011.9:g.5080844=, NC_000011.9:g.5080844T>G, NC_000011.10:g.5059614=, rs16909440, NC_000011.10:g.5059614T>G, 117923490, NP_001005164.2:p.Asn5=, 52834501, NC_000011.10:g.5059614T>C, rs117923490, NP_001005164.2:p.Asn5Thr, 16909440 +PA166185222 rs16917234 PA31891,PA134953249 BDNF,BDNF-AS NC_000011.10:27676827 3 1 0 0 0 NG_011794.1:g.50232=, NC_000011.9:g.27698374T>C, 16917234, NC_000011.9:g.27698374=, NC_000011.9:g.27698374T>A, rs16917234, NG_011794.1:g.50232A>T, NC_000011.10:g.27676827=, 60474413, NG_011794.1:g.50232A>G, NC_000011.10:g.27676827T>C, NC_000011.10:g.27676827T>A +PA166180549 rs16918482 PA34866 RRM2B NC_000008.11:102206460 1 0 0 0 0 NG_016617.1:g.37659T>G, NC_000008.11:g.102206460A>C, NC_000008.11:g.102206460=, NC_000008.10:g.103218688=, NG_016617.1:g.37659=, 16918482, rs16918482, NC_000008.10:g.103218688A>C +PA166206201 rs16918842 PA31943 OPRK1 NC_000008.11:53226264 2 0 0 0 0 16918842, NC_000008.11:g.53226264C>T, rs16918842, NC_000008.11:g.53226264=, NC_000008.11:g.53226264C>A, NC_000008.10:g.54138824=, NC_000008.10:g.54138824C>A, NC_000008.10:g.54138824C>T +PA166184295 rs16918875 PA31943 OPRK1 NC_000008.11:53229594 2 0 0 0 0 16918875, rs16918875, NC_000008.11:g.53229594=, 56888398, NC_000008.11:g.53229594G>A, NC_000008.10:g.54142154G>A, NC_000008.10:g.54142154=, NP_000903.2:p.Val282= +PA166185237 rs16918909 PA31943 OPRK1 NC_000008.11:53237474 5 0 0 0 0 57444910, NC_000008.10:g.54150034A>G, rs16918909, NC_000008.10:g.54150034=, NC_000008.11:g.53237474=, NC_000008.11:g.53237474A>G, 16918909 +PA166198163 rs16918941 PA31943 OPRK1 NC_000008.11:53248142 1 0 0 0 0 16918941, rs16918941, NC_000008.10:g.54160702=, NC_000008.11:g.53248142A>G, 60652422, NC_000008.11:g.53248142=, NC_000008.10:g.54160702A>G +PA166157649 rs16930092 PA432 GGH NC_000008.11:63027805 1 0 0 0 0 NC_000008.10:g.63940364=, NC_000008.11:g.63027805T>C, NG_028126.1:g.16247A>G, XM_011517623.1:c.276-540A>G, 16930092, rs16930092, NC_000008.10:g.63940364T>C, NG_028126.1:g.16247=, NC_000008.11:g.63027805=, NM_003878.2:c.276-540A>G +PA166314523 rs16934182 PA220 KCNMA1 NC_000010.11:77018976 2 0 0 0 0 rs16934182, 16934182, NC_000010.11:g.77018976G>C, NC_000010.10:g.78778734G>C, NC_000010.11:g.77018976G>A, NC_000010.10:g.78778734G>A, NG_012270.1:g.623844C>T, 59409609, NG_012270.1:g.623844=, NC_000010.11:g.77018976=, NC_000010.10:g.78778734=, NG_012270.1:g.623844C>G +PA166159072 rs16935279 NC_000008.11:68961217 1 1 0 0 0 NC_000008.11:g.68961217T>C, NC_000008.10:g.69873452T>C, NC_000008.10:g.69873452=, rs16935279, 58857959, NC_000008.11:g.68961217=, 16935279 +PA166160187 rs16940655 PA26874 CRHR1 NC_000017.11:45816520 1 0 0 0 0 NC_000017.10:g.43893886=, NP_004373.2:p.Ala60Val, NP_004373.2:p.Ala60=, 16940655, 117594810, NG_009902.1:g.37259=, NG_009902.1:g.37259C>A, NC_000017.11:g.45816520C>T, NC_000017.10:g.43893886C>A, rs16940655, NP_004373.2:p.Ala60Glu, NG_009902.1:g.37259C>T, NC_000017.11:g.45816520C>A, NC_000017.10:g.43893886C>T, NC_000017.11:g.45816520= +PA166160202 rs16940665 PA26874 CRHR1 NC_000017.11:45830530 1 0 0 0 0 NC_000017.10:g.43907896T>C, 16940665, NC_000017.11:g.45830530T>C, rs16940665, NG_009902.1:g.51269T>C, 17763154, NP_004373.2:p.Thr223=, NG_009902.1:g.51269=, NC_000017.10:g.43907896=, 117819147, NC_000017.11:g.45830530= +PA166160206 rs16940674 PA26874 CRHR1 NC_000017.11:45833141 1 0 0 0 0 NG_009902.1:g.53880=, 16940674, 17689991, NP_004373.2:p.Cys258=, NC_000017.11:g.45833141C>T, rs16940674, 141817026, NC_000017.11:g.45833141=, NG_009902.1:g.53880C>T, NC_000017.10:g.43910507C>T, 118114474, NC_000017.10:g.43910507= +PA166160219 rs16940686 PA26874 CRHR1 NC_000017.11:45835664 1 0 0 0 0 117155973, NC_000017.10:g.43913030G>T, NC_000017.11:g.45835664G>T, 16940686, NG_009902.1:g.56403=, rs16940686, NC_000017.11:g.45835664=, 141035884, NG_009902.1:g.56403G>T, NC_000017.10:g.43913030= +PA166155587 rs16944 PA29808 IL1B NC_000002.12:112837290 14 4 0 0 0 NM_000576.2:c.-598T>C, rs3827762, NC_000002.12:g.112837290=, NG_008851.1:g.4490T>C, XM_006712496.1:c.-1552T>C, NC_000002.11:g.113594867A>G, NC_000002.12:g.112837290A>G, rs16944, NG_008851.1:g.4490=, 3827762, NC_000002.11:g.113594867=, 16944 +PA166156031 rs16947 PA128 CYP2D6 NC_000022.11:42127941 717 98 97 0 0 XM_011529970.1:c.733C=, XP_011545843.1:p.Arg196=, XP_011528269.1:p.Arg296Cys, XP_011547121.1:p.Arg196Cys, XR_952745.1:n.2000+233C>T, XM_011529971.1:c.742C=, NC_000022.10:g.42523943A>T, XM_011529966.1:c.886C>T, rs57836231, NG_008376.3:g.7051C>A, NG_008376.3:g.7051=, NW_009646208.1:g.13507G=, XP_011528271.1:p.Arg248=, XP_011528273.1:p.Arg248=, XM_005278354.1:c.586C=, XP_011528270.1:p.Arg296=, XP_005278411.1:p.Arg196=, NC_000022.10:g.42523943A>G, NW_009646208.1:g.13507G>A, XM_005278354.1:c.586C>T, NG_008376.3:g.7051C=, XM_011529966.1:c.886C=, XM_011529971.1:c.742C>T, rs16947, NW_004504305.1:g.50268G>A, XP_011528272.1:p.Arg245Cys, XM_005278353.1:c.742C=, XP_011528273.1:p.Arg248Cys, NP_000097.3:p.Arg296Ser, XP_011528271.1:p.Arg248Cys, NC_000022.11:g.42127941=, NP_001020332.2:p.Arg245Cys, NP_000097.3:p.Arg296=, NG_008376.4:g.7870=, XM_011547541.1:c.586C=, XM_011529968.1:c.886C>T, XM_011547750.1:c.742T=, NM_001025161.2:c.733C>T, XM_011529969.1:c.742C>T, XP_011528272.1:p.Arg245=, XM_011547751.1:c.670T>C, XP_011528268.1:p.Arg296=, XM_011529972.1:c.843+233T>C, XP_011546052.1:p.Cys248Arg, XP_011528269.1:p.Arg296=, XM_005278354.3:c.586C=, NM_000106.5:c.886C=, XP_005278410.1:p.Arg248=, XM_005278353.1:c.742C>T, XM_011529967.1:c.886C=, XP_011546053.1:p.Cys224Arg, NG_008376.3:g.7051C>T, 57836231, XM_011548819.1:c.586C=, NG_008376.4:g.7870C>T, NP_001020332.2:p.Arg245=, XM_005278354.3:c.586C>T, XR_952745.1:n.2000+233T>C, 117039205, XP_011528270.1:p.Arg296Cys, XP_011546053.1:p.Cys224=, rs117039205, NG_008376.4:g.7870C>A, XM_011548819.1:c.586C>T, XM_011529967.1:c.886C>T, XM_011547541.1:c.586C>T, XP_005278411.1:p.Arg196Cys, NW_004504305.1:g.50268G=, XM_011529968.1:c.886C=, XP_011546052.1:p.Cys248=, NC_000022.11:g.42127941G>T, XM_011547756.1:c.-2094A>G, XM_011547756.1:c.-2094G>A, XM_011547751.1:c.670T=, XP_011528268.1:p.Arg296Cys, NT_187682.1:g.50282A=, XM_011529970.1:c.733C>T, NC_000022.11:g.42127941G=, XP_005278410.1:p.Arg248Cys, NT_187682.1:g.50282A>G, XP_011547121.1:p.Arg196=, XM_011529969.1:c.742C=, NC_000022.11:g.42127941G>A, XM_011529972.1:c.843+233C>T, XP_011545843.1:p.Arg196Cys, NC_000022.10:g.42523943A=, NM_001025161.2:c.733C=, XR_430455.2:n.-1930A>G, XR_430455.2:n.-1930G>A, 16947, NP_000097.3:p.Arg296Cys, NM_000106.5:c.886C>T, XM_011547750.1:c.742T>C +PA166155255 rs16948048 PA134896615 ZNF652 NC_000017.11:49363104 1 0 0 0 0 rs58731904, NC_000017.10:g.47440466A>G, NM_001145365.1:c.-1454T>C, rs16948048, NR_110884.1:n.58-1175A>G, rs61097478, NC_000017.11:g.49363104=, 58731904, 61097478, NC_000017.11:g.49363104A>G, 16948048, NM_014897.2:c.-950T>C, NR_110883.1:n.31-1175A>G, NR_110882.1:n.136+587A>G, NC_000017.10:g.47440466= +PA166154249 rs1695 PA29028 GSTP1 NC_000011.10:67585218 83 20 0 0 0 NP_000843.1:p.Ile105=, rs17856342, NG_012075.1:g.6624=, rs56971933, NG_012075.1:g.6624A>G, NP_000843.1:p.Ile105Val, NM_000852.3:c.313A>G, rs2230827, 4609, NC_000011.10:g.67585218A>G, 1695, 56971933, NC_000011.9:g.67352689A>G, 11553891, rs17353321, 947894, rs11553891, 2230827, XM_005273958.1:c.313A>G, rs947894, rs1695, rs1138257, NC_000011.9:g.67352689=, 1138257, rs4609, XP_005274015.1:p.Ile105Val, 17353321, 17856342, NC_000011.10:g.67585218= +PA166154751 rs16950650 PA397 ABCC4 NC_000013.11:95123178 1 1 0 0 0 rs16950650, NM_001105515.2:c.2456-7177G>A, XM_005254025.1:c.2327-7177G>A, XM_005254026.1:c.2315-7177G>A, rs58582224, NC_000013.10:g.95775432C>T, NM_001301829.1:c.2315-7177G>A, rs56643033, XM_006719914.1:c.2366-7177G>A, NG_050651.1:g.183269G>A, NC_000013.11:g.95123178=, XM_005254025.2:c.2327-7177G>A, XM_005254028.1:c.2231-7177G>A, 16950650, 58582224, NC_000013.10:g.95775432=, NM_005845.4:c.2456-7177G>A, 56643033, NC_000013.11:g.95123178C>T, XM_005254027.1:c.2231-7177G>A, NG_050651.1:g.183269=, XM_011521047.1:c.1907-7177G>A, NM_001301830.1:c.2231-7177G>A +PA166160979 rs16952570 PA152208656 FTO NC_000016.10:53831818 4 2 0 0 0 NC_000016.10:g.53831818T>C, NC_000016.9:g.53865730T>C, NG_012969.1:g.132856T>C, 60379572, NC_000016.9:g.53865730=, rs16952570, NC_000016.10:g.53831818=, 16952570, NG_012969.1:g.132856= +PA166155256 rs16960228 PA33759 PRKCA NC_000017.11:66792709 1 1 0 0 0 NM_002737.2:c.1854+3730G>A, NC_000017.10:g.64788827G>A, NG_012206.1:g.494902G>A, XM_011524989.1:c.1596+3730G>A, rs58963948, XM_011524990.1:c.1854+3730G>A, 56450221, NC_000017.11:g.66792709G>A, 16960228, rs56450221, 58963948, NC_000017.11:g.66792709=, NG_012206.1:g.494902=, rs16960228, XM_005257502.1:c.1854+3730G>A, NC_000017.10:g.64788827= +PA166154937 rs16964189 NC_000015.10:51202040 1 1 0 0 0 rs16964189, NC_000015.9:g.51494237C>T, 386541537, NC_000015.10:g.51202040=, NC_000015.9:g.51494237=, rs386541537, XR_932222.1:n.99-75943C>T, NC_000015.10:g.51202040C>T, 16964189 +PA166154752 rs16965962 NC_000013.11:105154672 1 1 0 0 0 NC_000013.11:g.105154672C>A, rs16965962, 16965962, NC_000013.10:g.105807023=, rs59413120, NC_000013.10:g.105807023C>A, 59413120, NC_000013.11:g.105154672= +PA166155115 rs16967126 PA244 ABCC1 NC_000016.10:16034561 1 0 0 0 0 16967126, XM_005255326.1:c.677+1391T>C, NT_187607.1:g.1692461T>C, XM_005255327.1:c.551+1391T>C, NG_028268.1:g.89985=, rs60727008, NG_028268.2:g.89985T>C, 60727008, XM_011522497.1:c.653+1391T>C, XM_005255329.1:c.677+1391T>C, NC_000016.10:g.16034561=, NC_000016.9:g.16128418T>C, NG_028268.2:g.89985=, rs16967126, XM_005255328.1:c.539+1391T>C, NM_004996.3:c.677+1391T>C, NC_000016.9:g.16128418=, NG_028268.1:g.89985T>C, NC_000016.10:g.16034561T>C, XM_011522498.1:c.731+1391T>C +PA166154938 rs16969968 PA113,PA26491 CHRNA3,CHRNA5 NC_000015.10:78590583 45 7 0 0 0 16969968, 52821477, NP_000736.2:p.Asp398Asn, 386541574, 17486705, NC_000015.10:g.78590583G>A, NG_023328.1:g.30064G>A, NM_000745.3:c.1192G>A, rs16969968, NC_000015.10:g.78590583=, XM_011521174.1:c.458+734G>A, rs52821477, NC_000015.9:g.78882925G>A, NG_023328.1:g.30064=, XM_005254142.1:c.707+485G>A, NC_000015.9:g.78882925=, rs17486705, NM_001307945.1:c.458+734G>A, XM_005254142.2:c.707+485G>A, NP_000736.2:p.Asp398=, rs386541574 +PA166154939 rs16973225 NC_000015.10:81937658 1 1 0 0 0 NC_000015.10:g.81937658A>C, NC_000015.10:g.81937658=, NC_000015.9:g.82229999=, XR_932528.1:n.399-7533T>G, 16973225, rs16973225, XR_932527.1:n.399-11633T>G, NC_000015.9:g.82229999A>C +PA166155327 rs16973410 NC_000018.10:40449909 1 1 0 0 0 rs111185412, 60089547, NC_000018.9:g.38029873=, rs60089547, 111185412, NC_000018.10:g.40449909C>T, 58114914, rs58114914, rs16973410, NC_000018.10:g.40449909=, 16973410, NC_000018.9:g.38029873C>T +PA166232202 rs16974799 PA123 CYP2B6 NC_000019.10:40998172 1 1 0 0 0 59265001, NC_000019.9:g.41504077=, 56525278, rs16974799, 16974799, NG_007929.1:g.11874=, NG_007929.1:g.11874C>G, NC_000019.9:g.41504077C>G, NC_000019.10:g.40998172C>G, NC_000019.10:g.40998172=, NC_000019.9:g.41504077C>T, NG_007929.1:g.11874C>T, NC_000019.10:g.40998172C>T +PA166180522 rs16980091 PA201092 FOXA3 NC_000019.10:45872521 1 0 0 0 0 rs16980091, NP_004488.2:p.Asn172=, 16980091, NC_000019.10:g.45872521=, NC_000019.10:g.45872521C>T, 57307171, NC_000019.9:g.46375779C>T, NC_000019.9:g.46375779= +PA166156670 rs16998073 PA28122 FGF5 NC_000004.12:80263187 1 0 0 0 0 NC_000004.11:g.81184341A>G, NC_000004.12:g.80263187A>C, NC_000004.11:g.81184341A>C, rs16998073, NC_000004.12:g.80263187=, NG_029501.1:g.1600A>T, NG_029501.1:g.1600=, NC_000004.12:g.80263187A>T, 16998073, NC_000004.11:g.81184341=, NC_000004.11:g.81184341A>T, NG_029501.1:g.1600A>G, NC_000004.12:g.80263187A>G, NG_029501.1:g.1600A>C +PA166270041 rs17004785 PA26711,PA327 COL18A1,SLC19A1 NC_000021.9:45512704 1 0 0 0 0 NG_028278.2:g.55440C>G, NG_011903.1:g.112513=, NG_028278.2:g.55440C>A, NG_011903.1:g.112513G>T, NC_000021.8:g.46932618G>T, 386541789, NC_000021.9:g.45512704G>T, rs17004785, 17004785, NC_000021.9:g.45512704G>A, NC_000021.9:g.45512704=, NC_000021.8:g.46932618G>C, NG_028278.2:g.55440C>T, NC_000021.8:g.46932618=, NC_000021.8:g.46932618G>A, NC_000021.9:g.45512704G>C, NG_011903.1:g.112513G>A, NG_028278.2:g.55440=, NG_011903.1:g.112513G>C +PA166238642 rs17004921 PA165378332 ADORA2A-AS1 NC_000022.11:24444708 2 1 0 0 0 rs17004921, NC_000022.10:g.24840676=, NC_000022.10:g.24840676C>T, 57930129, NC_000022.11:g.24444708C>T, NC_000022.11:g.24444708=, 17004921 +PA166186122 rs17009924 PA37418 XPO1 NC_000002.12:61500850 1 0 0 0 0 17009924, NC_000002.12:g.61500850=, rs17009924, NC_000002.12:g.61500850T>C, NC_000002.11:g.61727985=, NC_000002.11:g.61727985T>C +PA166156671 rs17010902 NC_000004.12:126294163 1 0 0 0 0 17010902, NC_000004.12:g.126294163=, rs17010902, NC_000004.11:g.127215318A>G, NC_000004.11:g.127215318=, NC_000004.12:g.126294163A>G +PA166153866 rs17011686 PA162376104 AIDA NC_000001.11:222671996 1 0 0 0 0 NC_000001.11:g.222671996=, NC_000001.10:g.222845338=, XR_921909.1:n.1322+1317T>C, NC_000001.11:g.222671996A>G, 17011686, XR_247034.1:n.1152+1317T>C, NC_000001.10:g.222845338A>G, NM_022831.2:c.706+1317T>C, XM_005273232.1:c.634+1317T>C, rs17011686 +PA166156461 rs17015762 NC_000003.12:78007643 1 0 0 0 0 rs17015762, 17015762, NC_000003.12:g.78007643C>T, NC_000003.11:g.78056794=, NC_000003.12:g.78007643=, XR_940977.1:n.215+15158G>A, NC_000003.11:g.78056794C>T, XR_940978.1:n.215+15158G>A, XR_940979.1:n.215+15158G>A +PA166153867 rs17021408 NC_000001.11:213769895 1 1 0 0 0 17021408, NC_000001.11:g.213769895T>C, rs17021408, XR_922586.1:n.137-24489T>C, NC_000001.10:g.213943238=, NC_000001.10:g.213943238T>C, XR_922587.1:n.136+38337T>C, NC_000001.11:g.213769895= +PA166156462 rs17024608 PA34276 RBMS3 NC_000003.12:29913199 1 1 0 0 0 XM_005265062.1:c.888+15724A>G, XM_005265064.3:c.654+13444A>G, NC_000003.11:g.29954690A>G, rs56888124, 17024608, NC_000003.12:g.29913199=, NC_000003.11:g.29954690=, XM_011533593.1:c.939+13444A>G, XM_005265064.1:c.654+13444A>G, XM_005265065.1:c.612+13444A>G, NM_001177711.1:c.939+13444A>G, NM_001177712.1:c.978+13444A>G, NM_014483.3:c.939+13444A>G, XM_005265065.3:c.612+13444A>G, 56888124, NC_000003.12:g.29913199A>G, XM_011533594.1:c.940-11098A>G, rs17024608, NM_001003792.2:c.885+15724A>G, XM_005265061.1:c.888+15724A>G, XM_005265063.1:c.654+13444A>G, NM_001003793.2:c.939+13444A>G, XM_011533592.1:c.939+13444A>G, XM_005265060.1:c.936+13444A>G +PA166156463 rs17026688 PA134944477 GADL1 NC_000003.12:30845325 1 0 0 0 0 NC_000003.12:g.30845325=, NC_000003.11:g.30886817C>T, 59580335, rs58981610, 17026688, rs17026688, NC_000003.12:g.30845325C>T, NM_207359.2:c.652-859G>A, rs59580335, 58981610, NC_000003.11:g.30886817= +PA166176642 rs17028658 PA128394692 ANKS1B NC_000012.12:98738334 1 0 0 0 0 NG_029860.1:g.1251321=, NC_000012.11:g.99132112T>G, NC_000012.11:g.99132112T>C, NG_029860.1:g.1251321A>C, NG_029860.2:g.1251321A>C, rs17028658, NC_000012.12:g.98738334T>C, NG_029860.2:g.1251321=, 58131732, NC_000012.12:g.98738334=, NG_029860.2:g.1251321A>G, 17028658, NG_029860.1:g.1251321A>G, NC_000012.12:g.98738334T>G, NC_000012.11:g.99132112= +PA166156483 rs17033 PA24571 ADH1B NC_000004.12:99307788 1 0 0 0 0 NC_000004.11:g.100228945T>C, NC_000004.11:g.100228945=, rs17033, NC_000004.12:g.99307788T>C, NM_000668.5:c.*52A>G, 17033, rs3805326, 3805326, 60655048, NG_011435.1:g.18628=, NG_011435.1:g.18628A>G, NC_000004.12:g.99307788=, XM_005262730.1:c.*52A>G, NM_001286650.1:c.*52A>G, rs60655048 +PA166177732 rs17034063 PA29456 HRH1 NC_000003.12:11164636 1 0 0 0 0 rs17034063, NC_000003.12:g.11164636C>T, NC_000003.11:g.11206322C>T, NC_000003.12:g.11164636=, 59702866, 17034063, NC_000003.11:g.11206322= +PA166156672 rs17035723 PA28730 GLRB NC_000004.12:157133262 1 0 0 0 0 NC_000004.12:g.157133262=, NG_015823.1:g.62138C>G, NC_000004.12:g.157133262C>G, NC_000004.11:g.158054414C>T, NC_000004.11:g.158054414=, NC_000004.11:g.158054414C>G, XM_005262934.1:c.250-3207C>T, 17035723, NC_000004.12:g.157133262C>T, NM_001166060.1:c.298-3207C>T, NG_015823.1:g.62138C>T, NM_000824.4:c.298-3207C>T, NM_001166061.1:c.298-3207C>T, NG_015823.1:g.62138=, XM_011531876.1:c.4-3207C>T, rs17035723 +PA166156464 rs17036160 PA281 PPARG NC_000003.12:12288284 1 0 0 0 0 NG_011749.1:g.5435=, NC_000003.12:g.12288284=, rs17036160, NG_011749.1:g.5435C>T, NM_138712.3:c.-77+264C>T, NC_000003.11:g.12329783C>T, NM_138711.3:c.-927C>T, XM_011533841.1:c.-853C>T, NC_000003.11:g.12329783=, XM_011533844.1:c.-927C>T, NM_005037.5:c.-3+264C>T, NC_000003.12:g.12288284C>T, 17036160 +PA166165312 rs17036170 PA281 PPARG NC_000003.12:12288912 1 0 0 0 0 NC_000003.12:g.12288912G>A, NG_011749.1:g.6063=, NC_000003.11:g.12330411=, NG_011749.1:g.6063G>A, NC_000003.12:g.12288912=, rs17036170, 17036170, NC_000003.11:g.12330411G>A +PA166154866 rs1703794 NC_000015.10:99069944 2 1 0 0 0 rs1703794, NW_003871084.1:g.85897A>G, 1703794, NC_000015.10:g.99069944=, NC_000015.10:g.99069944T>C, 56586848, NC_000015.9:g.99613173=, rs59536856, rs56586848, NC_000015.10:g.99069944T>A, NC_000015.9:g.99613173T>C, NC_000015.9:g.99613173T>A, 59536856 +PA166155841 rs17047764 PA134890284 INSIG2 NC_000002.12:118111006 3 0 0 0 0 NC_000002.11:g.118868582=, NC_000002.12:g.118111006G>C, 17047764, rs17047764, NC_000002.12:g.118111006=, NC_000002.11:g.118868582G>C +PA166154517 rs1705772 PA134732019 ALG10 NC_000012.12:34021821 1 1 0 0 0 56802576, NC_000012.11:g.34174756=, NC_000012.12:g.34021821G>A, NC_000012.12:g.34021821=, 386542136, NG_016389.1:g.4541G>A, 1705772, rs1705772, rs56802576, NG_016389.1:g.4541=, NM_032834.3:c.-779G>A, NC_000012.11:g.34174756G>A, rs386542136 +PA166299441 rs1705814 PA134926851 CRBN NC_000003.12:3164597 1 0 0 0 0 NG_016864.2:g.20121G>A, NC_000003.12:g.3164597=, NC_000003.11:g.3206281=, rs1705814, 60502251, NC_000003.11:g.3206281C>T, NC_000003.12:g.3164597C>G, 386542140, NC_000003.11:g.3206281C>G, NG_016864.2:g.20121=, 1705814, NC_000003.12:g.3164597C>T, NG_016864.2:g.20121G>C, 13099474, 74282260 +PA166157650 rs17060812 PA134863701 SLC39A14 NC_000008.11:22371315 1 1 0 0 0 NC_000008.10:g.22228828C>T, NC_000008.11:g.22371315=, NM_001135153.1:c.-16+3578C>T, NC_000008.11:g.22371315C>T, XM_006716324.1:c.-104+3907C>T, NG_054890.1:g.9067C>T, rs17060812, XM_011544478.1:c.-104+3578C>T, NC_000008.10:g.22228828=, NG_054890.1:g.9067=, NM_001128431.2:c.-16+3907C>T, NM_015359.4:c.-16+3907C>T, NM_001135154.1:c.-16+3907C>T, 17060812 +PA166268981 rs17064642 PA31419 MYOM2 NC_000008.11:2069296 1 1 0 0 0 rs17064642, NC_000008.11:g.2069296=, 17064642, NP_003961.3:p.Thr224=, NC_000008.10:g.2017415T>C, NC_000008.11:g.2069296T>C, NC_000008.10:g.2017415= +PA166157186 rs17068112 PA34329 REPS1 NC_000006.12:138928988 1 0 0 0 0 XM_005267180.1:c.1257+989G>C, XM_005267176.1:c.1257+989G>C, XM_005267179.1:c.1257+989G>C, 17068112, XR_245555.1:n.1857+989G>C, NC_000006.12:g.138928988=, XM_005267177.2:c.1257+989G>C, NM_001286611.1:c.1257+989G>C, XM_011536202.1:c.1122+989G>C, 60129588, XM_005267178.3:c.1257+989G>C, NM_001286612.1:c.1257+989G>C, XM_005267178.1:c.1257+989G>C, NC_000006.11:g.139250125C>G, XR_942610.1:n.1857+989G>C, NC_000006.12:g.138928988C>G, XM_005267179.2:c.1257+989G>C, NC_000006.11:g.139250125=, NG_034016.1:g.64274G>C, NM_031922.4:c.1257+989G>C, NG_034016.1:g.64274=, XM_011536203.1:c.1257+989G>C, rs60129588, XM_005267177.1:c.1257+989G>C, NM_001128617.2:c.1257+989G>C, rs17068112, XM_006715587.2:c.1194+989G>C +PA166155328 rs17069895 PA36601 TNFRSF11A NC_000018.10:62361625 1 0 0 0 0 NC_000018.9:g.60028858=, rs60815512, NG_008098.1:g.41311=, XM_011526245.1:c.509-55C>T, NC_000018.10:g.62361625=, NC_000018.9:g.60028858C>T, 17069895, NM_001278268.1:c.575-55C>T, NC_000018.10:g.62361625C>T, 60815512, NM_001270950.1:c.617-55C>T, XM_005266777.1:c.617-55C>T, XM_011526244.1:c.632-55C>T, XR_935263.1:n.647-55C>T, rs17069895, NM_001270951.1:c.616+1576C>T, NM_003839.3:c.617-55C>T, NM_003839.2:c.617-55C>T, NM_001270949.1:c.617-55C>T, NG_008098.1:g.41311C>T +PA166156896 rs1707 PA35083 HLA-G NC_000006.12:29830833 1 0 0 0 0 XM_011547651.1:c.*94T=, NT_167246.2:g.1093319T=, XM_011547882.1:c.*94T>C, XM_011548430.1:c.*108T>C, XM_005275550.1:c.*108T=, XM_005275550.1:c.*108T>C, XM_005274965.1:c.*94T=, XM_005274967.1:c.*94T>C, NT_113891.3:g.1314409T=, XM_011548236.1:c.*108T=, NC_000006.12:g.29830833C=, XM_005275122.1:c.*94T>C, XR_247389.1:n.1720T=, rs117926242, XM_005274964.1:c.*94T=, XM_011548431.1:c.*108T>C, XM_005274964.1:c.*94T>C, rs17375406, XR_247389.1:n.1720T>C, NT_167244.2:g.1096459T=, NT_167246.2:g.1093319T>C, NG_029039.1:g.8855=, XM_005275551.1:c.*323C>T, NT_167247.2:g.1093304T>C, NT_167247.1:g.1098889T>C, XM_011548237.1:c.*108T>C, XM_005275247.1:c.*94T=, XM_011548236.1:c.*108T>C, XR_241896.1:n.1720C>T, XM_005249055.1:c.*94C=, XM_005275549.1:c.*108T>C, XM_005249058.1:c.*94C>T, XM_005274966.1:c.*309T>C, NT_167247.1:g.1098889T=, XM_005275552.1:c.*108T>C, XM_005275247.1:c.*94T>C, XM_005272810.1:c.*108T>C, NT_167246.1:g.1098939T=, XR_247370.1:n.1720T=, rs57754052, XM_005275120.1:c.*94T=, XM_005275246.1:c.*94T=, NC_000006.12:g.29830833=, XM_005249056.1:c.*94C=, XM_011548237.1:c.*108T=, XR_247402.1:n.1654T>C, XM_005249056.1:c.*94C>T, XM_011547651.1:c.*94T>C, NT_167245.1:g.1099231T>C, XM_005275249.1:c.*94T=, XM_005275549.1:c.*108T=, 17375406, XM_005275551.1:c.*323T>C, XM_005249055.1:c.*94C>T, XM_011547882.1:c.*94T=, rs113572485, XM_005274965.1:c.*94T>C, NG_029039.1:g.8855C=, NT_167248.2:g.1093613T=, 117926242, 17179087, XM_005274966.1:c.*309C>T, XM_005275119.1:c.*94T=, XM_011548048.1:c.*94T=, NC_000006.11:g.29798610C>A, NT_167245.2:g.1093646T=, XR_247423.1:n.1712T=, NT_167249.2:g.1136878T=, rs1233332, NT_167248.2:g.1093613T>C, XM_005275394.1:c.*108T>C, 115689421, 75256208, NT_167246.1:g.1098939T>C, XM_005275122.1:c.*94T=, XM_011548430.1:c.*108T=, 1632931, rs1632931, XR_246963.1:n.1654T>C, XM_005275249.1:c.*94T>C, XM_005275121.1:c.*309C>T, 113572485, XM_005249058.1:c.*94C=, rs115689421, NC_000006.11:g.29798610C>T, rs1707, rs17179087, XM_005275246.1:c.*94T>C, NT_113891.3:g.1314409T>C, XM_005275248.1:c.*309C>T, XR_247402.1:n.1654T=, XR_246963.1:n.1654T=, XM_005249057.1:c.*309C>T, XM_005275120.1:c.*94T>C, 1707, 1233332, NG_029039.1:g.8855C>T, XR_247370.1:n.1720T>C, NT_167249.2:g.1136878T>C, NC_000006.11:g.29798610C=, XM_005275394.1:c.*108T=, NT_167245.2:g.1093646T>C, NG_029039.1:g.8855C>A, XM_005275119.1:c.*94T>C, XM_005275121.1:c.*309T>C, XM_005272810.1:c.*108T=, XR_241896.1:n.1720C=, NC_000006.12:g.29830833C>T, XM_005274967.1:c.*94T=, NT_167245.1:g.1099231T=, XR_247353.1:n.1720T=, XR_247423.1:n.1712T>C, XM_005275248.1:c.*309T>C, XM_005275552.1:c.*108T=, 57754052, NC_000006.12:g.29830833C>A, NC_000006.11:g.29798610=, XM_011548048.1:c.*94T>C, XR_247353.1:n.1720T>C, NM_002127.5:c.*94C>T, XM_005249057.1:c.*309T>C, rs75256208, XM_011548431.1:c.*108T=, NT_167247.2:g.1093304T=, NM_002127.5:c.*94C=, NT_167244.2:g.1096459T>C +PA166157651 rs17070785 PA26947 CSMD1 NC_000008.11:4610006 1 0 0 0 0 59334064, XM_011534752.1:c.302+27336T>C, NC_000008.11:g.4610006A>T, NC_000008.10:g.4467528A>G, NC_000008.10:g.4467528A>T, 17070785, NM_033225.5:c.302+27336T>C, NC_000008.11:g.4610006=, rs17070785, NC_000008.10:g.4467528=, rs59334064, NC_000008.11:g.4610006A>G +PA166232203 rs17078853 PA28995 GRM6 NC_000005.10:178981601 1 0 0 0 0 rs17078853, 17078853, NC_000005.10:g.178981601T>G, NG_008105.1:g.18523=, NC_000005.9:g.178408602=, NG_008105.1:g.18523A>C, NC_000005.9:g.178408602T>G, NC_000005.10:g.178981601= +PA166232205 rs17078877 PA28995 GRM6 NC_000005.10:178983212 1 0 0 0 0 NG_008105.1:g.16912=, rs17078877, NP_000834.2:p.Met712=, NG_008105.1:g.16912A>T, NC_000005.10:g.178983212=, 386542261, 52818090, 17078877, NC_000005.9:g.178410213=, NC_000005.9:g.178410213T>C, NG_008105.1:g.16912A>G, NP_000834.2:p.Met712Val, NC_000005.10:g.178983212T>A, NC_000005.10:g.178983212T>C, NC_000005.9:g.178410213T>A, NP_000834.2:p.Met712Leu +PA166157187 rs17083553 NC_000006.12:121412523 1 0 0 0 0 NC_000006.12:g.121412523=, NC_000006.11:g.121733669=, rs17083553, NC_000006.11:g.121733669G>T, 17083553, NC_000006.12:g.121412523G>T, rs60181725, 60181725 +PA166157188 rs17083598 NC_000006.12:121425324 1 0 0 0 0 NC_000006.12:g.121425324G>A, 56913092, NC_000006.11:g.121746470G>A, rs17083598, NC_000006.12:g.121425324=, 17083598, NC_000006.11:g.121746470=, rs56913092 +PA166157839 rs17087144 PA426 SLC28A3 NC_000009.12:84349803 1 0 0 0 0 60939937, NC_000009.12:g.84349803T>A, 57817760, XM_011518907.1:c.-98+18649A>T, NC_000009.12:g.84349803T>C, NC_000009.11:g.86964718T>C, NC_000009.11:g.86964718T>A, 17087144, NC_000009.12:g.84349803=, NC_000009.11:g.86964718=, rs17087144, rs60939937, rs57817760, XM_011518906.1:c.-45-9125A>T, NM_022127.2:c.-45-9125A>T +PA166184034 rs1709083 PA27101 CYP2A13 NC_000019.10:41095991 2 1 0 0 0 NC_000019.9:g.41601896C>G, NG_007928.1:g.12529=, NC_000019.9:g.41601896C>A, NG_007928.1:g.12529C>A, NC_000019.10:g.41095991C>G, 61416356, rs1709083, NG_007928.1:g.12529C>G, 1709083, NC_000019.10:g.41095991=, NC_000019.10:g.41095991C>A, NC_000019.9:g.41601896C>T, NC_000019.10:g.41095991C>T, NC_000019.9:g.41601896=, NG_007928.1:g.12529C>T +PA166154830 rs17091162 PA35020 SERPINA3 NC_000014.9:94622895 1 1 0 0 0 XM_005267308.1:c.1068+404C>A, rs60560586, rs17091162, NC_000014.8:g.95089232C>A, NM_001085.4:c.1068+404C>A, XM_005267307.1:c.1143+404C>A, NC_000014.8:g.95089232=, NC_000014.9:g.94622895=, 60560586, NG_012879.1:g.15519C>A, 17091162, NC_000014.9:g.94622895C>A, XR_245663.1:n.899+404C>A, NG_012879.1:g.15519= +PA166157887 rs17091297 PA24396,PA128394569 ABCD1,BCAP31 NC_000023.11:153715410 1 0 0 0 0 NM_001139457.2:c.542+132C>G, NC_000023.11:g.153715410G>C, NM_001256447.1:c.341+132C>G, NC_000023.10:g.152980865G>C, rs17091297, NW_003871103.3:g.1149393G>C, NC_000023.11:g.153715410=, NM_005745.7:c.341+132C>G, 56518749, NC_000023.10:g.152980865=, NM_001139441.1:c.341+132C>G, NG_023231.1:g.14337C>G, rs56518749, NG_023231.1:g.14337=, 17091297 +PA166156897 rs1710 PA35083 HLA-G NC_000006.12:29830840 1 0 0 0 0 NC_000006.12:g.29830840G>C, XR_247370.1:n.1727G>C, NT_167245.1:g.1099238G>C, XM_005275249.1:c.*101G=, XM_011548048.1:c.*101G=, XR_247423.1:n.1719C=, NC_000006.11:g.29798617G>C, NM_002127.5:c.*101G>C, NT_167244.2:g.1096466C=, NT_167246.1:g.1098946G>C, XM_005275246.1:c.*101G=, XM_005275550.1:c.*115C=, XR_241896.1:n.1727G=, 117391931, XM_005249057.1:c.*316C>G, XM_005249057.1:c.*316G>C, XR_247423.1:n.1719C>G, NG_029039.1:g.8862G=, NT_113891.3:g.1314416C>G, rs3189113, XR_246963.1:n.1661C>G, NT_167245.1:g.1099238G=, XM_005272810.1:c.*115C>G, rs116152775, XR_246963.1:n.1661C=, NG_029039.1:g.8862=, NT_167249.2:g.1136885C>G, XM_005249056.1:c.*101G>C, XM_005275549.1:c.*115C=, XM_005249055.1:c.*101G>C, NT_167245.2:g.1093653G>C, XM_005275248.1:c.*316C>G, XM_005275248.1:c.*316G>C, NT_167244.2:g.1096466C>G, XM_005275122.1:c.*101G>C, XR_247389.1:n.1727G>C, XM_005275120.1:c.*101G>C, rs77969756, XM_005249058.1:c.*101G>C, rs1049037, NT_113891.3:g.1314416C=, XM_011547882.1:c.*101G>C, rs117391931, NT_167247.2:g.1093311G>C, XM_005275246.1:c.*101G>C, XM_011548236.1:c.*115C=, NT_167247.2:g.1093311G=, NT_167248.2:g.1093620C=, XM_005275119.1:c.*101G=, 17179094, rs1710, NM_002127.5:c.*101G=, NT_167249.2:g.1136885C=, XM_005275121.1:c.*316C>G, XM_005275121.1:c.*316G>C, NT_167246.2:g.1093326G>C, XM_011548237.1:c.*115C=, 3189113, XM_005249055.1:c.*101G=, XM_005275550.1:c.*115C>G, NC_000006.11:g.29798617G=, XM_011548431.1:c.*115C>G, XM_011548430.1:c.*115C>G, NC_000006.12:g.29830840G=, XM_005274964.1:c.*101G=, XM_005249058.1:c.*101G=, rs1632930, XR_247370.1:n.1727G=, 1632930, XM_005275122.1:c.*101G=, NT_167246.2:g.1093326G=, XM_005274967.1:c.*101G>C, XM_005275247.1:c.*101G>C, XM_005275249.1:c.*101G>C, XM_011547651.1:c.*101G=, 77969756, XM_005274964.1:c.*101G>C, XM_005274965.1:c.*101G>C, XR_247353.1:n.1727G=, XR_247353.1:n.1727G>C, NG_029039.1:g.8862G>C, XM_005275552.1:c.*115C>G, XM_005275551.1:c.*330C>G, XM_005275551.1:c.*330G>C, NC_000006.12:g.29830840=, NT_167247.1:g.1098896G=, XM_011547882.1:c.*101G=, NT_167246.1:g.1098946G=, XM_011547651.1:c.*101G>C, XM_005274967.1:c.*101G=, 111577111, NT_167247.1:g.1098896G>C, XR_241896.1:n.1727G>C, rs17179094, 1049037, XM_011548431.1:c.*115C=, XM_005275394.1:c.*115C=, XM_005272810.1:c.*115C=, XR_247402.1:n.1661C>G, XM_011548048.1:c.*101G>C, 1710, XM_005274965.1:c.*101G=, XM_011548236.1:c.*115C>G, NC_000006.11:g.29798617=, XR_247402.1:n.1661C=, XM_011548237.1:c.*115C>G, NT_167248.2:g.1093620C>G, XM_005275394.1:c.*115C>G, XR_247389.1:n.1727G=, XM_005275119.1:c.*101G>C, rs111577111, XM_005274966.1:c.*316C>G, XM_005274966.1:c.*316G>C, XM_005275247.1:c.*101G=, XM_011548430.1:c.*115C=, XM_005249056.1:c.*101G=, XM_005275120.1:c.*101G=, XM_005275549.1:c.*115C>G, NT_167245.2:g.1093653G=, 116152775, XM_005275552.1:c.*115C= +PA166244781 rs17102977 PA134933184 CYP4X1 NC_000001.11:47029933 1 0 0 0 0 NC_000001.11:g.47029933=, rs17102977, NC_000001.10:g.47495605A>G, NG_007966.2:g.73570=, 17102977, NC_000001.11:g.47029933A>G, NC_000001.10:g.47495605=, 61385382, NG_007966.2:g.73570A>G +PA166154646 rs17109924 PA28894 LGR5 NC_000012.12:71584007 1 1 0 0 0 NR_110596.1:n.2497+95T>C, rs58792571, NM_001277227.1:c.1781T>C, rs61507334, NP_001264156.1:p.Val594Ala, NM_003667.3:c.1997T>C, rs56488504, 17109924, 61507334, NP_003658.1:p.Val666Ala, NC_000012.12:g.71584007=, 58792571, NC_000012.12:g.71584007T>C, XM_005269204.1:c.1775T>C, XM_005269204.3:c.1775T>C, XP_005269261.1:p.Val592Ala, rs17109924, NC_000012.11:g.71977787T>C, NP_001264155.1:p.Val642Ala, NC_000012.11:g.71977787=, NP_003658.1:p.Val666=, 56488504, NM_001277226.1:c.1925T>C +PA166154160 rs17110453 PA125 CYP2C8 NC_000010.11:95069772 3 0 0 0 0 rs17110453, NG_055437.1:g.471A>T, NM_001198853.1:c.-618T>G, rs57410615, XR_246073.1:n.-274T>G, NM_000770.3:c.-370T>G, NM_001198854.1:c.-551T>G, 386542449, NG_055437.1:g.471A>C, NC_000010.10:g.96829529A>T, NC_000010.10:g.96829529=, NG_007972.1:g.4726T>A, 57410615, rs56470669, rs386542449, XR_945610.1:n.-274T>G, NG_007972.1:g.4726T>G, NC_000010.11:g.95069772A>C, 17110453, NC_000010.11:g.95069772=, NG_055437.1:g.471=, 56470669, NG_007972.1:g.4726=, NC_000010.11:g.95069772A>T, NM_001198855.1:c.-680T>G, NC_000010.10:g.96829529A>C +PA166153868 rs17111584 PA37248 USP24 NC_000001.11:55081023 1 0 0 0 0 XM_006710511.2:c.7075+299A>G, XM_011541122.1:c.7078+299A>G, NC_000001.10:g.55546696T>C, 57665399, NC_000001.11:g.55081023T>C, rs17111584, 17111584, NC_000001.11:g.55081023=, NC_000001.10:g.55546696=, NM_015306.2:c.7078+299A>G, XM_005270689.1:c.6553+299A>G, XM_005270690.1:c.5293+299A>G, XM_005270690.2:c.5293+299A>G, rs57665399 +PA166153869 rs17116806 PA145 DPYD NC_000001.11:97507696 1 0 0 0 0 NC_000001.10:g.97973252C>A, NG_008807.2:g.418364=, NC_000001.11:g.97507696=, rs17116806, NC_000001.11:g.97507696C>A, rs59151739, XM_005270562.1:c.1524+41864G>T, XM_005270562.3:c.1524+41864G>T, XM_005270561.1:c.1629+8030G>T, XM_005270563.1:c.1740+8030G>T, NM_000110.3:c.1740+8030G>T, XM_006710397.2:c.1740+8030G>T, NC_000001.10:g.97973252=, 59151739, 17116806, NG_008807.2:g.418364G>T +PA166186641 rs17117817 NC_000012.12:55629199 1 0 0 0 0 NC_000012.12:g.55629199=, rs17117817, 17117817, NC_000012.11:g.56022983T>G, NC_000012.12:g.55629199T>G, NC_000012.11:g.56022983=, 59231970 +PA166159092 rs17120361 NC_000012.12:58131347 1 0 0 0 0 NC_000012.12:g.58131347=, rs17120361, 17120361, NC_000012.11:g.58525130G>A, NC_000012.11:g.58525130G>C, NC_000012.12:g.58131347G>C, NC_000012.11:g.58525130=, NC_000012.12:g.58131347G>A +PA166160025 rs17126068 NC_000014.9:53033179 1 1 0 0 0 NC_000014.8:g.53499897=, 17126068, NC_000014.9:g.53033179=, NC_000014.9:g.53033179A>G, NC_000014.8:g.53499897A>G, rs17126068, 60872253 +PA166184279 rs17128809 PA33129 PDE4B NC_000001.11:66335322 1 0 0 0 0 NC_000001.11:g.66335322A>T, NC_000001.10:g.66801005=, NG_029038.1:g.547813=, 17128809, 59810930, rs17128809, NC_000001.10:g.66801005A>T, NG_029038.1:g.547813A>T, NC_000001.11:g.66335322= +PA166161792 rs17134592 PA24680 AKR1C4 NC_000010.11:5218719 3 1 0 0 0 NP_001809.3:p.Leu311Val, NG_031872.1:g.26885C>T, NG_031872.1:g.26885=, rs17134592, NC_000010.10:g.5260682C>G, NC_000010.11:g.5218719C>T, NC_000010.10:g.5260682C>T, NP_001809.3:p.Leu311=, NC_000010.10:g.5260682=, NG_031872.1:g.26885C>G, NP_001809.3:p.Leu311Phe, 17134592, 52836437, NC_000010.11:g.5218719=, NC_000010.11:g.5218719C>G +PA166157468 rs17135437 PA134887081 COL26A1 NC_000007.14:101472713 1 1 0 0 0 NC_000007.14:g.101472713C>T, NM_001278563.2:c.385+24926C>T, NC_000007.14:g.101472713=, rs56649692, NC_000007.13:g.101115994C>T, NG_033785.2:g.114894C>T, rs17135437, rs61650616, NC_000007.13:g.101115994=, NG_033785.2:g.114894=, NM_133457.4:c.379+24926C>T, 61650616, 17135437, 56649692 +PA166154470 rs17137967 PA213 KCNJ1 NC_000011.10:128847623 1 0 0 0 0 NM_153764.2:c.-21-7359A>G, NM_153766.2:c.-22+3098A>G, NC_000011.10:g.128847623T>C, NM_153767.3:c.-22+3098A>G, rs17137967, NC_000011.9:g.128717518T>C, NG_009379.1:g.24751=, NG_009379.1:g.24751A>G, NC_000011.9:g.128717518=, 17137967, NC_000011.10:g.128847623=, NM_153765.2:c.31-7359A>G +PA166157189 rs17140129 PA134954893 FARS2 NC_000006.12:5298129 1 0 0 0 0 rs17140129, NC_000006.12:g.5298129A>G, XM_006714966.1:c.-22+36469A>G, XM_011514250.1:c.-22+36469A>G, NC_000006.11:g.5298362A>G, XM_005248811.1:c.-22+36771A>G, XM_011514247.1:c.-22+36469A>G, NC_000006.11:g.5298362=, NC_000006.12:g.5298129=, NG_033003.2:g.41779A>G, XM_005248814.1:c.-22+36469A>G, XM_011514251.1:c.-22+36469A>G, XM_005248813.1:c.-22+36469A>G, NG_033003.2:g.41779=, NM_001318872.1:c.-22+36771A>G, 56529883, XM_005248812.1:c.-22+25640A>G, XR_926027.1:n.310+36469A>G, XM_011514248.1:c.-22+36469A>G, XR_926028.1:n.310+36469A>G, XM_005248812.2:c.-22+25640A>G, 17140129, NG_033003.1:g.41779=, rs56529883, XM_011514249.1:c.-22+36469A>G, NM_006567.4:c.-22+36469A>G, XR_926026.1:n.310+36469A>G, NG_033003.1:g.41779A>G +PA166160081 rs17141876 PA38657 GLCCI1 NC_000007.14:8016034 1 0 0 0 0 rs17141876, 57800276, NG_032073.1:g.52291=, NC_000007.14:g.8016034=, NC_000007.13:g.8055664C>T, NC_000007.14:g.8016034C>T, NG_032073.1:g.52291C>T, NC_000007.13:g.8055664=, 17141876 +PA166160122 rs17142716 PA38657 GLCCI1 NC_000007.14:8075646 1 0 0 0 0 rs17142716, 17142716, NC_000007.13:g.8115276=, NC_000007.14:g.8075646A>G, NC_000007.13:g.8115276A>T, NC_000007.14:g.8075646=, NC_000007.14:g.8075646A>T, NC_000007.13:g.8115276A>G, NG_032073.1:g.111903A>G, NG_032073.1:g.111903=, 57167280, NG_032073.1:g.111903A>T +PA166160124 rs17142727 PA38657 GLCCI1 NC_000007.14:8076164 1 0 0 0 0 rs17142727, 17142727, NC_000007.13:g.8115794A>G, 59734885, NC_000007.14:g.8076164=, NC_000007.14:g.8076164A>G, NC_000007.13:g.8115794=, NG_032073.1:g.112421=, NG_032073.1:g.112421A>G +PA166157469 rs17143212 PA24387 ABCB5 NC_000007.14:20643261 2 1 0 0 0 NC_000007.14:g.20643261C>T, NC_000007.13:g.20682884=, NC_000007.13:g.20682884C>A, NP_001157413.1:p.Thr131Asn, rs52828109, NP_001157413.1:p.Thr131=, 17143212, NC_000007.14:g.20643261C>A, NC_000007.14:g.20643261=, NC_000007.13:g.20682884C>T, NP_001157413.1:p.Thr131Ile, 52828109, NM_001163941.1:c.392C>T, rs17143212 +PA166160185 rs171440 PA26874 CRHR1 NC_000017.11:45816121 1 0 0 0 0 117792921, NC_000017.10:g.43893487G>T, rs171440, NC_000017.11:g.45816121G>C, NG_009902.1:g.36859A>T, NC_000017.10:g.43893487=, NC_000017.11:g.45816121G>A, 114979973, NC_000017.10:g.43893487G>C, 17762781, 146969341, NG_009902.1:g.36859A>G, NC_000017.10:g.43893487G>A, NC_000017.11:g.45816121G>T, NC_000017.11:g.45816121=, NG_009902.1:g.36859A>C, 171440, 57027318 +PA166155186 rs1714984 PA134946896 MYOCD NC_000017.11:12714384 1 0 0 0 0 NC_000017.10:g.12617701A>T, rs16946491, NG_012972.1:g.53495A>T, NG_012972.1:g.53495=, rs60539572, NM_001146312.2:c.122-1135A>G, 60539572, NC_000017.11:g.12714384=, NC_000017.10:g.12617701=, XM_005256864.1:c.-116-1135A>G, 16946491, NC_000017.11:g.12714384A>G, NG_012972.1:g.53495A>G, XM_005256863.1:c.122-1135A>G, NM_153604.3:c.122-1135A>G, 1714984, rs1714984, NC_000017.11:g.12714384A>T, NC_000017.10:g.12617701A>G +PA166177322 rs17153694 PA28587 GATA4 NC_000008.11:11730972 1 0 0 0 0 NC_000008.11:g.11730972C>T, NC_000008.10:g.11588481=, NG_008177.2:g.59054C>T, 17153694, rs17153694, NC_000008.10:g.11588481C>T, 58678321, NC_000008.11:g.11730972=, NG_008177.2:g.59054= +PA166177323 rs17153698 PA28587 GATA4 NC_000008.11:11732499 1 0 0 0 0 NG_008177.2:g.60581=, NC_000008.11:g.11732499=, NC_000008.10:g.11590008=, NG_008177.2:g.60581G>A, NC_000008.10:g.11590008G>A, 59410606, 17153698, NC_000008.11:g.11732499G>A, rs17153698 +PA166177335 rs17153747 PA28587 GATA4 NC_000008.11:11753844 1 0 0 0 0 rs17153747, NC_000008.10:g.11611353=, 17153747, NC_000008.11:g.11753844=, NG_008177.2:g.81926=, 58398543, NC_000008.10:g.11611353T>C, NC_000008.11:g.11753844T>C, NG_008177.2:g.81926T>C +PA166157470 rs17160170 NC_000007.14:85803497 1 0 0 0 0 rs59013520, 59013520, NC_000007.13:g.85432813=, NC_000007.14:g.85803497=, 17160170, rs17160170, NC_000007.13:g.85432813C>T, NC_000007.14:g.85803497C>T +PA166157471 rs17160359 PA267,PA162402278 ABCB1,RUNDC3B NC_000007.14:87717503 1 1 0 0 0 NM_001134405.1:c.458+6848G>T, XM_005250158.1:c.98+6848G>T, XM_005250158.2:c.98+6848G>T, NM_138290.2:c.509+6848G>T, NC_000007.14:g.87717503G>T, NC_000007.14:g.87717503G>A, NG_011513.1:g.746=, XM_005250156.2:c.458+6848G>T, XM_011515826.1:c.509+6848G>T, XM_005250156.1:c.458+6848G>T, XM_011515829.1:c.116+6848G>T, 17160359, XM_011515828.1:c.116+6848G>T, XM_011515827.1:c.509+6848G>T, NC_000007.13:g.87346819G>T, NG_011513.1:g.746C>A, NM_001134406.1:c.458+6848G>T, XM_005250157.1:c.116+6848G>T, NC_000007.14:g.87717503=, NC_000007.13:g.87346819G>A, NG_011513.1:g.746C>T, rs17160359, NC_000007.13:g.87346819= +PA166157472 rs17161788 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99648286 1 1 0 0 0 rs17161788, NG_007938.1:g.36713A>G, XM_005250197.1:c.*763T>C, NM_001291830.1:c.*19A>G, XM_011515846.1:c.*19A>G, XM_005250169.1:c.*19A>G, 17161788, NC_000007.13:g.99245909=, XR_927402.1:n.1466+24106T>C, XM_005250173.1:c.*19A>G, NR_033808.1:n.2130A>G, XM_005250172.1:c.*19A>G, XM_011515909.1:c.806-20809T>C, NR_033809.1:n.1890A>G, XM_011515845.1:c.*19A>G, NM_000777.4:c.*19A>G, NC_000007.14:g.99648286=, NR_033807.2:n.3262A>G, NG_007938.1:g.36713=, XM_011515910.1:c.*763T>C, NM_001291829.1:c.*19A>G, XM_005250171.1:c.*19A>G, XM_005250198.1:c.805+24106T>C, XM_011515844.1:c.*19A>G, NC_000007.13:g.99245909T>C, XM_011515843.1:c.*19A>G, NC_000007.14:g.99648286T>C, XM_005250170.1:c.*19A>G, XM_011515847.1:c.*19A>G +PA166157473 rs17161981 PA427 CYP3A43 NC_000007.14:99862822 1 0 0 0 0 NG_007935.1:g.39810G>A, NM_022820.4:c.1254-712G>A, rs57347575, rs58640471, NC_000007.14:g.99862822G>A, rs56519387, NM_057095.2:c.1254-715G>A, 58640471, XM_011516494.1:c.833+983G>A, 57347575, NR_103869.1:n.1478-715G>A, 17161981, NC_000007.14:g.99862822=, NG_007935.1:g.39810=, NC_000007.13:g.99460445G>A, NM_001278921.1:c.924-715G>A, 56519387, NC_000007.13:g.99460445=, rs17161981, NR_103868.1:n.1213+983G>A, XM_011516493.1:c.1254-36G>A, NM_057096.3:c.1253+983G>A +PA166157474 rs17161983 PA427 CYP3A43 NC_000007.14:99866195 1 0 0 0 0 57853943, XM_011516493.1:c.*194A>G, NR_103868.1:n.1503A>G, NC_000007.13:g.99463818A>G, NM_057095.2:c.*194A>G, NG_007935.1:g.43183A>G, NG_007935.1:g.43183=, 59438728, XM_011516494.1:c.*280A>G, rs59438728, NM_057096.3:c.*280A>G, NM_001278921.1:c.*194A>G, NR_103869.1:n.1930A>G, 17161983, NM_022820.4:c.*194A>G, NC_000007.13:g.99463818=, NC_000007.14:g.99866195A>G, NC_000007.14:g.99866195=, rs57853943, rs17161983 +PA166185428 rs17162912 NC_000001.11:222801584 1 0 0 0 0 NC_000001.10:g.222974926=, rs17162912, NC_000001.11:g.222801584T>C, NC_000001.10:g.222974926T>C, 17162912, NC_000001.11:g.222801584=, 56462158 +PA166153870 rs17163303 PA143485536 MIA3 NC_000001.11:222621776 1 0 0 0 0 XM_005273121.3:c.267+484G>T, 59414865, NC_000001.10:g.222795118=, XM_006711304.2:c.267+484G>T, 17163303, NC_000001.11:g.222621776=, NC_000001.11:g.222621776G>T, XM_011509513.1:c.267+484G>T, NC_000001.10:g.222795118G>T, NM_198551.3:c.267+484G>T, XM_005273121.1:c.267+484G>T, rs17163303, rs59414865 +PA166153871 rs17163429 PA162376104 AIDA NC_000001.11:222682073 1 0 0 0 0 rs59877400, rs17163429, rs56463009, 17163429, NC_000001.11:g.222682073=, XR_247034.1:n.906+4857A>G, 59877400, 56463009, NM_022831.2:c.460+4857A>G, XR_921909.1:n.1076+4857A>G, NC_000001.10:g.222855415=, XM_005273232.1:c.388+4857A>G, NC_000001.10:g.222855415T>C, NC_000001.11:g.222682073T>C +PA166157475 rs17171676 PA25942 SUGCT NC_000007.14:40301030 1 0 0 0 0 XM_011515529.1:c.598-15730A>C, XM_011515528.1:c.742-15730A>C, NC_000007.14:g.40301030A>C, XM_011515527.1:c.598-15730A>C, NC_000007.13:g.40340629=, rs17171676, XM_006715775.2:c.742-15730A>C, NG_023422.1:g.171055=, NG_023422.2:g.171055=, NM_001193311.1:c.742-15730A>C, NG_023422.2:g.171055A>C, NC_000007.13:g.40340629A>C, NM_001193312.1:c.598-15730A>C, NM_024728.2:c.631-15730A>C, XM_011515530.1:c.742-15730A>C, NG_023422.1:g.171055A>C, XM_011515526.1:c.664-15730A>C, 17171676, NM_001193313.1:c.742-15730A>C, NC_000007.14:g.40301030=, XM_011515525.1:c.742-15730A>C +PA166157476 rs17172437 PA7360 EGFR NC_000007.14:55082117 1 0 0 0 0 NM_201283.1:c.89-60169A>G, NC_000007.13:g.55149810=, NG_007726.3:g.68086=, NC_000007.14:g.55082117=, XM_005271746.1:c.89-60169A>G, rs17172437, NC_000007.13:g.55149810A>G, rs60629863, NM_005228.3:c.89-60169A>G, NM_201284.1:c.89-60169A>G, NC_000007.14:g.55082117A>G, 60629863, NG_007726.3:g.68086A>G, 17172437, NM_201282.1:c.89-60169A>G, XM_005271748.1:c.89-60169A>G +PA166177735 rs17174629 PA31945 OPRM1 NC_000006.12:154038226 2 0 0 0 0 NC_000006.12:g.154038226=, NC_000006.11:g.154359361A>G, NC_000006.11:g.154359361=, 61092186, 17174629, rs17174629, NG_021208.2:g.32726A>G, NC_000006.12:g.154038226A>G, NG_021208.2:g.32726= +PA166177956 rs17174794 PA31945 OPRM1 NC_000006.12:154089975 1 0 0 0 0 NC_000006.12:g.154089975C>G, NC_000006.11:g.154411110C>G, NG_021208.2:g.84475=, 17174794, NP_000905.3:p.Ser147=, NP_000905.3:p.Ser147Phe, NC_000006.12:g.154089975=, NC_000006.11:g.154411110C>T, rs17174794, NG_021208.2:g.84475C>T, NG_021208.2:g.84475C>G, NC_000006.11:g.154411110=, NC_000006.12:g.154089975C>T, NP_000905.3:p.Ser147Cys +PA166177957 rs17174801 PA31945 OPRM1 NC_000006.12:154089989 1 0 0 0 0 NP_000905.3:p.Asn152=, NP_000905.3:p.Asn152Asp, NG_021208.2:g.84489=, NG_021208.2:g.84489A>G, NC_000006.12:g.154089989A>G, 17174801, rs17174801, NC_000006.12:g.154089989=, NC_000006.11:g.154411124=, NC_000006.11:g.154411124A>G +PA166157190 rs17179101 PA35083 HLA-G NC_000006.12:29830857 1 0 0 0 0 XR_246963.1:n.1678C>A, XM_005274966.1:c.*333C>A, NC_000006.12:g.29830857C>A, XM_011548236.1:c.*132C>A, 118174970, NT_167244.2:g.1096483C>A, XM_011548237.1:c.*132C>A, XM_005275248.1:c.*333C>A, XM_005275394.1:c.*132C>A, XM_005272810.1:c.*132C>A, rs118174970, XR_247389.1:n.1744C>A, NT_167249.2:g.1136902C>A, 115810666, XM_005249057.1:c.*333C>A, NT_167247.2:g.1093328C>A, XM_005275119.1:c.*118C>A, XM_011547651.1:c.*118C>A, 17179101, XM_005275246.1:c.*118C>A, NM_002127.5:c.*118C>A, NG_029039.1:g.8879C>A, XM_011548048.1:c.*118C>A, NT_113891.3:g.1314433C>A, XM_005275247.1:c.*118C>A, XM_005249058.1:c.*118C>A, XR_247370.1:n.1744C>A, NT_167248.2:g.1093637C>A, XR_241896.1:n.1744C>A, XM_005275249.1:c.*118C>A, XM_005275552.1:c.*132C>A, XR_247353.1:n.1744C>A, XM_005249056.1:c.*118C>A, XM_005275120.1:c.*118C>A, XM_005249055.1:c.*118C>A, XM_011548430.1:c.*132C>A, XM_005275122.1:c.*118C>A, XM_011548431.1:c.*132C>A, XR_247402.1:n.1678C>A, XM_005275550.1:c.*132C>A, NT_167245.1:g.1099255C>A, NT_167246.1:g.1098963C>A, XR_247423.1:n.1736C>A, NC_000006.12:g.29830857=, NC_000006.11:g.29798634C>A, NG_029039.1:g.8879=, NT_167247.1:g.1098913C>A, XM_011547882.1:c.*118C>A, NT_167246.2:g.1093343C>A, XM_005275551.1:c.*347C>A, rs17179101, NC_000006.11:g.29798634=, NT_167245.2:g.1093670C>A, XM_005275121.1:c.*333C>A, XM_005275549.1:c.*132C>A, XM_005274967.1:c.*118C>A, rs115810666, XM_005274964.1:c.*118C>A, XM_005274965.1:c.*118C>A +PA166157191 rs17179108 PA35083 HLA-G NC_000006.12:29830865 1 1 0 0 0 XM_005275122.1:c.*126C>T, XM_005249058.1:c.*126C>T, XM_005275120.1:c.*126C>T, rs117118691, NT_113891.3:g.1314441C>T, NT_167245.1:g.1099263C>T, XM_005275550.1:c.*140C>T, XR_247423.1:n.1744C>T, XR_247370.1:n.1752C>T, XM_011547882.1:c.*126C>T, XM_011548430.1:c.*140C>T, XM_011548431.1:c.*140C>T, NT_167248.2:g.1093645C>T, XM_005249055.1:c.*126C>T, NT_167245.2:g.1093678C>T, XM_005249056.1:c.*126C>T, XM_011548048.1:c.*126C>T, 117118691, XM_005274964.1:c.*126C>T, XM_011547651.1:c.*126C>T, 17179108, XM_005275121.1:c.*341C>T, NG_029039.1:g.8887C>T, XM_005275551.1:c.*355C>T, XM_005272810.1:c.*140C>T, 17875407, NT_167246.1:g.1098971C>T, XM_011548237.1:c.*140C>T, XR_247402.1:n.1686C>T, XM_005275552.1:c.*140C>T, XR_247353.1:n.1752C>T, XR_246963.1:n.1686C>T, XR_247389.1:n.1752C>T, XM_005275394.1:c.*140C>T, NT_167249.2:g.1136910C>T, NC_000006.12:g.29830865=, XM_005275248.1:c.*341C>T, NM_002127.5:c.*126C>T, XM_011548236.1:c.*140C>T, NC_000006.12:g.29830865C>T, XM_005274966.1:c.*341C>T, 115100128, XM_005275119.1:c.*126C>T, rs115100128, NT_167246.2:g.1093351C>T, XM_005275549.1:c.*140C>T, XM_005275249.1:c.*126C>T, XR_241896.1:n.1752C>T, NT_167247.1:g.1098921C>T, XM_005275246.1:c.*126C>T, XM_005274965.1:c.*126C>T, XM_005275247.1:c.*126C>T, XM_005249057.1:c.*341C>T, NC_000006.11:g.29798642C>T, NG_029039.1:g.8887=, XM_005274967.1:c.*126C>T, rs17179108, NC_000006.11:g.29798642=, NT_167247.2:g.1093336C>T, rs17875407, NT_167244.2:g.1096491C>T +PA166154831 rs17179740 PA27886 ESR2 NC_000014.9:64290033 1 0 0 0 0 NR_073505.1:n.654-6958C>T, NC_000014.8:g.64756751=, NM_001291723.1:c.-90-6958C>T, NC_000014.9:g.64290033G>A, rs17179740, NC_000014.8:g.64756751G>A, NM_001040275.1:c.-91+4000C>T, NR_073496.1:n.654-6958C>T, 17179740, XM_011536546.1:c.-90-6958C>T, NG_011535.1:g.53518=, NM_001291712.1:c.-90-6958C>T, NG_011535.1:g.53518C>T, NC_000014.9:g.64290033=, NM_001437.2:c.-91+4000C>T, rs58763396, 58763396, XM_011536545.1:c.-91+4000C>T +PA166159971 rs17180299 NC_000009.12:80329287 1 1 0 0 0 17180299, NC_000009.12:g.80329287A>G, rs17180299, 61635450, NC_000009.12:g.80329287=, NC_000009.11:g.82944202A>G, NC_000009.11:g.82944202= +PA166178531 rs17180982 PA31945 OPRM1 NC_000006.12:154037848 1 0 0 0 0 147837727, NC_000006.12:g.154037846_154037847=, NC_000006.12:g.154037847dup, 17180982, rs17180982, NG_021208.2:g.32346_32347=, NC_000006.11:g.154358981_154358982=, NC_000006.11:g.154358982dup, NG_021208.2:g.32347dup +PA166196172 rs1718119 PA32866 P2RX7 NC_000012.12:121177300 1 0 0 0 0 NG_011471.2:g.49426G>A, 17525154, NP_002553.3:p.Ala348=, NC_000012.12:g.121177300G>A, 386542885, NC_000012.12:g.121177300=, NG_011471.2:g.49426=, rs1718119, NG_011471.2:g.49426G>T, 1718119, 2230910, NC_000012.12:g.121177300G>T, NC_000012.11:g.121615103G>T, 52812840, NC_000012.11:g.121615103G>A, 58430687, NC_000012.11:g.121615103=, NP_002553.3:p.Ala348Thr, NP_002553.3:p.Ala348Ser +PA166184626 rs1718125 PA32866 P2RX7 NC_000012.12:121155216 2 1 0 0 0 NG_011471.2:g.27342C>T, NC_000012.11:g.121593019=, 56518388, NC_000012.11:g.121593019C>T, 57745057, NC_000012.12:g.121155216C>T, NC_000012.12:g.121155216=, 386542887, NG_011471.2:g.27342=, rs1718125, 1718125 +PA166180108 rs17181352 PA31945 OPRM1 NC_000006.12:154119446 1 0 0 0 0 rs17181352, NC_000006.11:g.154440581=, 17181352, NC_000006.12:g.154119446=, NC_000006.11:g.154440581A>G, NC_000006.12:g.154119446A>G, NG_021208.2:g.113946=, NG_021208.2:g.113946A>G +PA166184628 rs1718136 PA32866 P2RX7 NC_000012.12:121171805 1 0 0 0 0 NC_000012.12:g.121171805A>G, NG_011471.2:g.43931=, NG_011471.2:g.43931A>G, 60654709, NC_000012.12:g.121171805=, NC_000012.11:g.121609608=, rs1718136, 1718136, NC_000012.11:g.121609608A>G +PA166155842 rs17183814 PA35004 SCN2A NC_000002.12:165295879 7 1 0 0 0 NP_066287.2:p.Arg19=, NM_001040143.1:c.56G>A, rs52803852, XM_005246754.3:c.27-1G>A, NC_000002.11:g.166152389G>A, 17183814, XM_005246750.1:c.56G>A, NP_066287.2:p.Arg19Lys, XM_005246750.2:c.56G>A, rs17183814, NP_001035232.1:p.Arg19Lys, NP_001035233.1:p.Arg19Lys, XM_011511609.1:c.56G>A, XM_005246752.1:c.56G>A, XM_005246753.2:c.56G>A, XM_005246753.1:c.56G>A, XP_005246810.1:p.Arg19Lys, NG_008143.1:g.61478=, NM_001040142.1:c.56G>A, NG_008143.1:g.61478G>A, NM_021007.2:c.56G>A, NC_000002.12:g.165295879G>A, XM_011511608.1:c.56G>A, XM_005246751.1:c.56G>A, 52803852, XP_005246809.1:p.Arg19Lys, XP_011509910.1:p.Arg19Lys, NC_000002.11:g.166152389=, XP_011509911.1:p.Arg19Lys, XM_005246754.1:c.27-1G>A, XP_005246807.1:p.Arg19Lys, XP_005246808.1:p.Arg19Lys, NC_000002.12:g.165295879= +PA166157840 rs17189632 PA28983 GRIN3A NC_000009.12:101605720 1 0 0 0 0 17189632, NC_000009.12:g.101605720=, rs17189632, NM_133445.2:c.2766+7656A>T, NC_000009.11:g.104368002T>G, NC_000009.11:g.104368002=, XR_929711.1:n.3164-2686A>T, NC_000009.12:g.101605720T>A, NC_000009.12:g.101605720T>G, XM_011518212.1:c.2767-2686A>T, NC_000009.11:g.104368002T>A +PA166154867 rs1719247 NC_000015.10:45328787 1 1 0 0 0 NC_000015.9:g.45620985C>T, NC_000015.10:g.45328787C>T, NC_000015.10:g.45328787=, NC_000015.10:g.45328787C>G, 59060754, rs59060754, NC_000015.9:g.45620985=, 1719247, rs1719247, NC_000015.9:g.45620985C>G +PA166156465 rs17194378 PA26688 CNTN4 NC_000003.12:2423407 1 0 0 0 0 NC_000003.12:g.2423407A>T, NM_001206955.1:c.-89+84174A>G, NM_175607.2:c.-89+84174A>G, XM_005264903.1:c.-89+84174A>G, XM_005264906.1:c.-89+84174A>G, NG_012827.2:g.327845=, XM_011533427.1:c.-89+84174A>G, 17194378, XM_011533425.1:c.-89+84174A>G, NC_000003.11:g.2465091A>T, XM_005264904.1:c.-89+84174A>G, NC_000003.12:g.2423407=, NG_012827.1:g.327845A>G, NG_012827.2:g.327845A>G, NC_000003.12:g.2423407A>G, rs17194378, XM_006713004.2:c.-89+84174A>G, XM_011533426.1:c.-89+84174A>G, NG_012827.2:g.327845A>T, NC_000003.11:g.2465091A>G, NC_000003.11:g.2465091=, NG_012827.1:g.327845A>T, NG_012827.1:g.327845= +PA166181041 rs17211071 PA35072 HLA-DRB1 NC_000006.12:32589759 1 1 0 0 0 rs17211071, NG_002392.2:g.137580=, NG_029921.1:g.5078C>T, NC_000006.11:g.32557536G>A, NG_002433.1:g.146268G>A, NG_002432.1:g.137027=, NG_002392.2:g.137580G>A, NG_002432.1:g.137027G>A, NC_000006.12:g.32589759=, NC_000006.12:g.32589759G>A, NG_002433.1:g.146268=, 17211071, NC_000006.11:g.32557536=, NG_029921.1:g.5078= +PA166154940 rs17215836 PA387 SLC28A1 NC_000015.10:84895082 2 0 0 0 0 XM_011522206.1:c.419_420insTGT, XM_005254993.1:c.419_420insTGT, 17215836, XP_011520517.1:p.Leu140_Lys141insVal, XP_011520510.1:p.Leu131_Lys132insVal, XR_931945.1:n.625_626insTGT, XM_011522211.1:c.185_186insTGT, NC_000015.10:g.84895081_84895082insGT, XM_011522213.1:c.419_420insTGT, rs45577135, XP_005255052.1:p.Leu140_Lys141insVal, XP_011520512.1:p.Leu140_Lys141insVal, XM_005254992.1:c.392_393insTGT, NP_004204.3:p.Leu140=, XP_011520520.1:p.Leu140_Lys141insVal, XP_005255051.1:p.Leu62_Lys63insVal, NM_001287761.1:c.419_420insTGT, XP_011520506.1:p.Leu140_Lys141insVal, NM_201651.2:c.419_420insTGT, XP_011520511.1:p.Leu140_Lys141insVal, NP_004204.3:p.Lys141fs, NM_001287762.1:c.419_420insTGT, XP_011520515.1:p.Leu140_Lys141insVal, XM_011522215.1:c.419_420insTGT, XM_011522205.1:c.419_420insTGT, XM_011522208.1:c.392_393insTGT, XP_005255047.1:p.Leu140_Lys141insVal, NP_004204.3:p.Leu140_Lys141insVal, XP_005255050.1:p.Leu140_Lys141insVal, XM_005254995.1:c.419_420insTGT, XP_011520505.1:p.Leu140_Lys141insVal, 57140500, XM_011522204.1:c.419_420insTGT, XP_011520513.1:p.Leu62_Lys63insVal, NC_000015.10:g.84895081=, NC_000015.9:g.85438312_85438313insTGT, NP_001274690.1:p.Leu140_Lys141insVal, XM_011522214.1:c.419_420insTGT, XP_011520508.1:p.Leu140_Lys141insVal, XM_005254990.1:c.419_420insTGT, XM_005254994.1:c.185_186insTGT, NC_000015.10:g.84895081_84895082insTGT, XM_011522209.1:c.419_420insTGT, XP_005255045.1:p.Leu140_Lys141insVal, NM_004213.4:c.419_420insTGT, NP_964014.1:p.Leu140_Lys141insVal, XM_011522203.1:c.419_420insTGT, rs17215836, XM_011522210.1:c.419_420insTGT, XP_011520507.1:p.Leu140_Lys141insVal, NC_000015.9:g.85438312_85438313insGT, rs57140500, XP_011520516.1:p.Leu140_Lys141insVal, XP_005255049.1:p.Leu131_Lys132insVal, NC_000015.9:g.85438312=, XP_005255048.1:p.Leu140_Lys141insVal, XM_005254989.1:c.419_420insTGT, XP_011520518.1:p.Leu62_Lys63insVal, XP_011520509.1:p.Leu140_Lys141insVal, XP_011520519.1:p.Leu140_Lys141insVal, NP_001274691.1:p.Leu140_Lys141insVal, 45577135, XM_011522212.1:c.419_420insTGT, XM_011522218.1:c.419_420insTGT, NP_004204.3:p.Lys141_Pro142insVal, XR_931944.1:n.625_626insTGT, XM_005254991.1:c.419_420insTGT, XM_005254988.1:c.419_420insTGT, XP_011520514.1:p.Leu140_Lys141insVal, XP_005255046.1:p.Leu140_Lys141insVal, XM_011522216.1:c.185_186insTGT, XM_011522217.1:c.419_420insTGT, XM_011522207.1:c.419_420insTGT +PA166154161 rs17216177 PA116 ABCC2 NC_000010.11:99843765 4 0 0 0 0 rs17216177, XR_945605.1:n.3806-34T>C, 45616434, XM_006717630.2:c.3046-34T>C, 17216177, NG_011798.1:g.66060T>C, NC_000010.10:g.101603522=, NG_011798.2:g.66168T>C, NC_000010.11:g.99843765=, rs45616434, NC_000010.11:g.99843765T>C, XM_005269536.1:c.3463-34T>C, XR_945604.1:n.3931-34T>C, NM_000392.4:c.3742-34T>C, NC_000010.10:g.101603522T>C, NG_011798.1:g.66060=, NG_011798.2:g.66168= +PA166180524 rs17216198 PA116 ABCC2 NC_000010.11:99804028 1 0 0 0 0 rs17216198, 58929821, 17216198, NP_000383.2:p.Leu407=, NG_011798.2:g.26431=, NG_011798.1:g.26323=, NG_011798.2:g.26431C>T, NC_000010.10:g.101563785C>T, NG_011798.1:g.26323C>T, NC_000010.10:g.101563785=, NC_000010.11:g.99804028C>T, NC_000010.11:g.99804028= +PA166157192 rs17220479 PA25414 BRD2 NC_000006.12:32973038 1 0 0 0 0 XM_005249265.1:c.-424+111C>T, XR_247406.1:n.1608+111C>T, NC_000006.12:g.32973038C>T, NG_042801.1:g.9379C>T, NC_000006.12:g.32973038=, XP_005272909.1:p.Arg27Cys, XM_005249264.1:c.29+111C>T, XP_005249320.1:p.Arg27Cys, NG_042801.1:g.9379C>G, NM_001199455.1:c.29+111C>T, XR_247427.1:n.717+1023C>T, NC_000006.12:g.32973038C>G, NM_001291986.1:c.-424+111C>T, NG_042801.1:g.9379=, NC_000006.11:g.32940815=, rs17220479, NT_167247.2:g.4272095C>T, XR_246967.3:n.1608+111C>T, NR_037625.1:n.1643+111C>T, NM_001199456.1:c.-204C>T, XR_952834.1:n.1608+111C>T, NT_113891.2:g.4385353C>T, rs114499376, 117434779, NT_167246.2:g.4392422C>T, XM_005272852.1:c.79C>T, NT_167248.2:g.4167363C>T, XR_241911.1:n.759+111C>T, XR_952210.1:n.1608+111C>T, XR_926296.1:n.759+111C>T, NM_001113182.2:c.29+111C>T, XM_005272853.1:c.-424+111C>T, NT_113891.3:g.4385247C>T, XR_246967.1:n.1608+111C>T, XR_247427.2:n.1608+111C>T, NT_167248.1:g.4172959C>T, NT_167249.2:g.4422289C>T, 114499376, XM_005275148.1:c.-424+111C>T, NT_167247.1:g.4277680C>T, XM_005275579.1:c.-1336+1023C>T, NC_000006.11:g.32940815C>G, XM_005249263.1:c.79C>T, XR_953082.1:n.1608+111C>T, XR_953008.1:n.1608+111C>T, 17220479, XR_247375.1:n.1608+111C>T, NC_000006.11:g.32940815C>T, rs117434779, NT_167246.1:g.4398042C>T, XM_005275437.1:c.-424+111C>T, NM_005104.3:c.29+111C>T +PA166155116 rs17221417 PA26074 NOD2 NC_000016.10:50705671 1 0 0 0 0 NM_022162.2:c.541-2184C>G, XM_005256084.1:c.460-2184C>G, XM_011523258.1:c.-37-2184C>G, XR_429726.2:n.550-2184C>G, NC_000016.9:g.50739582C>G, XM_011523261.1:c.460-2184C>G, NC_000016.10:g.50705671C>G, NM_001293557.1:c.460-2184C>G, XM_006721242.2:c.460-2184C>G, 17221417, XM_011523260.1:c.460-2184C>G, XR_429725.2:n.550-2184C>G, XR_933387.1:n.550-2184C>G, rs17221417, NC_000016.9:g.50739582=, 56939657, NM_022162.1:c.541-2184C>G, NG_007508.1:g.13533C>G, XM_011523259.1:c.-20-4887C>G, XM_006721243.2:c.460-2184C>G, rs56939657, NC_000016.10:g.50705671=, XM_011523257.1:c.-37-2184C>G, XM_005256084.2:c.460-2184C>G, NG_007508.1:g.13533= +PA166154162 rs17222589 PA116 ABCC2 NC_000010.11:99804266 1 0 0 0 0 XP_006717693.1:p.Thr254Ile, 52790979, XM_011539291.1:c.1457C>T, rs57497783, NP_000383.2:p.Thr486Ile, rs17222589, NP_000383.1:p.Thr486Ile, XR_945605.1:n.1648C>T, 57497783, NG_011798.1:g.26561C>T, NG_011798.2:g.26669=, XP_006717694.1:p.Thr486Ile, 17222589, NC_000010.10:g.101564023C>T, NM_000392.4:c.1457C>T, XP_011537593.1:p.Thr486Ile, 45518933, NP_000383.2:p.Thr486=, XM_005269536.1:c.1457C>T, NC_000010.11:g.99804266=, rs45518933, NG_011798.1:g.26561=, NG_011798.2:g.26669C>T, XM_006717630.2:c.761C>T, NC_000010.10:g.101564023=, XR_945604.1:n.1646C>T, XM_006717631.2:c.1457C>T, rs52790979, NC_000010.11:g.99804266C>T, XP_005269593.1:p.Thr486Ile +PA166154163 rs17222723 PA116 ABCC2 NC_000010.11:99836239 10 3 0 0 0 rs17222723, XR_945605.1:n.3754T>A, NM_000392.4:c.3563T>A, NP_000383.2:p.Val1188=, XM_005269536.1:c.3284T>A, NC_000010.11:g.99836239=, NP_000383.2:p.Val1188Glu, 59106280, XP_006717693.1:p.Val956Glu, NG_011798.1:g.58534T>A, XP_005269593.1:p.Val1095Glu, NG_011798.2:g.58642=, 52837755, NC_000010.10:g.101595996=, XM_006717630.2:c.2867T>A, rs59106280, 17222723, NC_000010.11:g.99836239T>A, rs52837755, NG_011798.1:g.58534=, XR_945604.1:n.3752T>A, NG_011798.2:g.58642T>A, NP_000383.1:p.Val1188Glu, NC_000010.10:g.101595996T>A +PA166159083 rs17223074 PA28846 CMKLR2 NC_000002.12:206202754 1 0 0 0 0 NC_000002.11:g.207067478C>T, NC_000002.12:g.206202754C>T, NC_000002.12:g.206202754=, 17223074, rs17223074, NG_051613.1:g.4379=, NG_051613.1:g.4379C>T, NC_000002.11:g.207067478= +PA166156883 rs17234657 NC_000005.10:40401407 1 0 0 0 0 rs17234657, NC_000005.10:g.40401407T>G, 17234657, 57757691, NC_000005.9:g.40401509T>G, NC_000005.9:g.40401509=, NC_000005.10:g.40401407=, rs57757691 +PA166156885 rs17238540 PA189 HMGCR NC_000005.10:75359673 7 3 0 0 0 rs59500163, NM_000859.2:c.2457+117T>G, NC_000005.9:g.74655498=, 17238540, 59500163, NC_000005.10:g.75359673T>G, NG_011449.1:g.27506T>G, NM_001130996.1:c.2298+117T>G, NC_000005.9:g.74655498T>G, XM_011543357.1:c.2517+117T>G, NG_011449.1:g.27506=, NC_000005.10:g.75359673=, XM_011543359.1:c.2358+117T>G, rs17238540, XM_005248492.1:c.2517+117T>G, XM_011543358.1:c.2457+117T>G +PA166177470 rs17239025 NC_000013.11:30765768 1 0 0 0 0 NG_011963.2:g.57291G>C, NC_000013.10:g.31339905G>C, 17239025, NC_000013.10:g.31339905=, NC_000013.11:g.30765768G>C, rs17239025, NC_000013.11:g.30765768=, NG_011963.2:g.57291= +PA166155257 rs17244587 PA36362 TBX21 NC_000017.11:47745669 1 0 0 0 0 NC_000017.10:g.45823035G>A, rs17244587, rs17699362, NM_013351.1:c.*303G>A, 17699362, NG_012166.1:g.17426G>A, NC_000017.11:g.47745669G>A, XM_011524698.1:c.*303G>A, NC_000017.11:g.47745669=, NC_000017.10:g.45823035=, NG_012166.1:g.17426=, XM_011524699.1:c.*303G>A, 17244587 +PA166156886 rs17244841 PA189 HMGCR NC_000005.10:75347030 4 4 0 0 0 rs17244841, NC_000005.10:g.75347030=, XM_011543358.1:c.451-174A>T, XM_011543359.1:c.511-174A>T, rs60168925, NC_000005.9:g.74642855=, NC_000005.10:g.75347030A>T, NM_000859.2:c.451-174A>T, XM_011543357.1:c.511-174A>T, NG_011449.1:g.14863A>T, NM_001130996.1:c.451-174A>T, 60168925, NG_011449.1:g.14863=, 17244841, NC_000005.9:g.74642855A>T, XM_005248492.1:c.511-174A>T +PA166163380 rs17250932 PA36362 TBX21 NC_000017.11:47731941 1 0 0 0 0 NC_000017.11:g.47731941T>C, NC_000017.10:g.45809307=, rs17250932, 17250932, NG_012166.1:g.3698=, NC_000017.11:g.47731941=, NG_052584.1:g.798T>C, 59200792, NG_012166.1:g.3698T>C, NC_000017.10:g.45809307T>C, NG_052584.1:g.798= +PA166155117 rs17264736 PA244 ABCC1 NC_000016.10:16022699 1 0 0 0 0 NT_187607.1:g.1680578T>G, NG_028268.1:g.78123G>T, NC_000016.10:g.16022699=, rs60563196, XM_011522498.1:c.669+6078G>T, XM_011522498.1:c.669+6078T>G, NM_004996.3:c.615+6078G>T, NM_004996.3:c.615+6078T>G, 386543216, NG_028268.2:g.78123=, NG_028268.2:g.78123G>T, NC_000016.9:g.16116556G>T, NG_028268.1:g.78123G=, NC_000016.9:g.16116556=, NT_187607.1:g.1680578T=, rs386543216, 17264736, NG_028268.1:g.78123=, XM_011522497.1:c.591+6078G>T, XM_011522497.1:c.591+6078T>G, NC_000016.10:g.16022699G=, NC_000016.10:g.16022699G>T, rs17264736, XM_005255328.1:c.477+6078G>T, XM_005255327.1:c.489+8071G>T, 60563196, XM_005255326.1:c.615+6078G>T, XM_005255329.1:c.615+6078G>T +PA166154753 rs17268122 PA397 ABCC4 NC_000013.11:95192240 1 0 0 0 0 XM_005254028.1:c.1038+2596C>A, NC_000013.10:g.95844494=, NC_000013.11:g.95192240G>C, NC_000013.11:g.95192240G>A, NM_001105515.2:c.1263+2596C>A, XM_011521047.1:c.714+2596C>A, rs17268122, XM_006719914.1:c.1263+2596C>A, XM_005254027.1:c.1038+2596C>A, NM_001301830.1:c.1038+2596C>A, XM_005254025.2:c.1134+2596C>A, NC_000013.11:g.95192240G>T, XM_005254026.1:c.1263+2596C>A, NG_050651.1:g.114207C>A, NG_050651.1:g.114207C>G, NC_000013.10:g.95844494G>C, 17268122, NC_000013.10:g.95844494G>A, XM_005254025.1:c.1134+2596C>A, NG_050651.1:g.114207C>T, NC_000013.10:g.95844494G>T, NM_005845.4:c.1263+2596C>A, NG_050651.1:g.114207=, NC_000013.11:g.95192240=, NM_001301829.1:c.1263+2596C>A +PA166161197 rs17268282 PA397 ABCC4 NC_000013.11:95273060 1 1 0 0 0 NC_000013.11:g.95273060=, NC_000013.10:g.95925314=, NG_050651.1:g.33387=, NG_050651.1:g.33387C>A, rs17268282, NC_000013.10:g.95925314G>T, 17268282, NC_000013.11:g.95273060G>T +PA166155348 rs172731 PA34134,PA162406385 RAB3D,TMEM205 NC_000019.10:11336275 1 0 0 0 0 rs1268847, NC_000019.10:g.11336275T>C, NC_000019.9:g.11446951T>C, NM_004283.3:c.229-492A>G, rs172731, rs477329, NC_000019.10:g.11336275=, 172749, 1268847, rs809544, 172731, 477329, 809544, NC_000019.9:g.11446951=, rs172749 +PA166176961 rs17279558 PA432 GGH NC_000008.11:63015187 1 1 0 0 0 NC_000008.11:g.63015187T>C, NC_000008.10:g.63927746T>C, NC_000008.11:g.63015187=, NG_028126.1:g.28865=, NC_000008.10:g.63927746=, rs17279558, NG_028126.1:g.28865A>G, 17279558 +PA166155118 rs17287570 PA244 ABCC1 NC_000016.10:16061246 1 0 0 0 0 NG_028268.2:g.116670=, rs57882411, NC_000016.9:g.16155103A>C, NT_187607.1:g.1719137C>A, NC_000016.10:g.16061246A=, XM_011522497.1:c.1653+4951A>C, XM_011522497.1:c.1653+4951C>A, 57882411, NC_000016.10:g.16061246A>C, XM_005255326.1:c.1677+4951A>C, XM_011522498.1:c.1731+4951A>C, XM_011522498.1:c.1731+4951C>A, NT_187607.1:g.1719137C=, NG_028268.1:g.116670=, XM_005255328.1:c.1539+4951A>C, XM_005255327.1:c.1551+4951A>C, NC_000016.9:g.16155103=, rs17287570, NC_000016.10:g.16061246=, NG_028268.1:g.116670A>C, NM_004996.3:c.1677+4951A>C, NM_004996.3:c.1677+4951C>A, XM_005255329.1:c.1677+4951A>C, NG_028268.2:g.116670A>C, 17287570, NG_028268.1:g.116670A= +PA166154754 rs17288723 PA193 HTR2A NC_000013.11:46883558 1 0 0 0 0 NG_013011.1:g.18477A>G, NC_000013.11:g.46883558T>C, rs57188549, NC_000013.11:g.46883558=, rs17288723, NM_000621.4:c.613+8832A>G, 57188549, NM_001165947.2:c.361+8832A>G, 17288723, NC_000013.10:g.47457693=, NG_013011.1:g.18477=, NC_000013.10:g.47457693T>C +PA166293481 rs17289304 PA193 HTR2A NC_000013.11:46897583 1 0 0 0 0 NC_000013.11:g.46897583T>C, NG_013011.1:g.4452=, NG_013011.1:g.4452A>C, 36213155, 111196056, NC_000013.11:g.46897583=, rs17289304, NC_000013.10:g.47471718T>C, NG_013011.1:g.4452A>G, 58497398, 17289304, NC_000013.11:g.46897583T>G, NC_000013.10:g.47471718T>G, NC_000013.10:g.47471718= +PA166160887 rs17300539 PA134933118 ADIPOQ NC_000003.12:186841671 1 0 0 0 0 NC_000003.12:g.186841671=, NC_000003.11:g.186559460=, NC_000003.11:g.186559460G>A, 28973160, NG_021140.1:g.3998G>A, NG_044949.1:g.1762G>A, NC_000003.12:g.186841671G>A, NG_021140.1:g.3998=, 59829562, NG_044949.1:g.1762=, rs17300539, 17300539 +PA166177008 rs17300741 PA38295 SLC22A11 NC_000011.10:64563990 1 0 0 0 0 17300741, NC_000011.10:g.64563990A>G, NC_000011.9:g.64331462=, NC_000011.9:g.64331462A>T, NC_000011.10:g.64563990=, NC_000011.10:g.64563990A>T, NC_000011.9:g.64331462A>G, rs17300741, 58428841 +PA166226862 rs17301249 PA27934 EYA4 NC_000006.12:133291776 1 0 0 0 0 NG_011596.1:g.55420G>C, NC_000006.12:g.133291776G>C, 56511286, NG_011596.2:g.55420=, 57335448, NC_000006.11:g.133612914=, NG_011596.1:g.55420=, 17301249, NG_011596.2:g.55420G>C, NC_000006.12:g.133291776=, rs17301249, NC_000006.11:g.133612914G>C +PA166155966 rs17309872 PA24429,PA29015 ACSS2,GSS NC_000020.11:34927985 1 1 0 0 0 XM_005260405.1:c.*843T>A, XM_011528905.1:c.*771A>T, XM_011528907.1:c.*771A>T, NC_000020.10:g.33515788=, XM_005260406.1:c.*843T>A, NC_000020.11:g.34927985A>T, NM_018677.3:c.*771A>T, XM_011528908.1:c.*771A>T, XM_005260454.1:c.*771A>T, XM_005260455.1:c.*771A>T, NM_001242393.1:c.*771A>T, XM_005260456.1:c.*771A>T, XM_005260406.3:c.*843T>A, XM_011528906.1:c.*771A>T, NG_008848.2:g.33043T>A, XM_005260457.1:c.*771A>T, XM_011528910.1:c.*771A>T, XM_011528911.1:c.*771A>T, NG_008848.2:g.33043T>C, NG_008848.2:g.33043=, XM_011528912.1:c.*771A>T, NM_000178.2:c.*843T>A, NG_011520.1:g.58044=, NG_011520.1:g.58044A>C, NC_000020.10:g.33515788A>T, NC_000020.11:g.34927985=, NC_000020.10:g.33515788A>G, XM_006723826.1:c.*771A>T, NG_008848.2:g.33043T>G, 17309872, NG_011520.1:g.58044A>T, NC_000020.11:g.34927985A>G, NC_000020.10:g.33515788A>C, rs17309872, NC_000020.11:g.34927985A>C, NM_001076552.2:c.*771A>T, XM_011528909.1:c.*771A>T, NG_008848.1:g.32814T>A, XM_011528796.1:c.*843T>A, NG_011520.1:g.58044A>G +PA166161803 rs1731017 PA24372 ABAT NC_000016.10:8746097 2 0 0 0 0 rs1731017, 1731017, NG_008432.1:g.76511A>G, 386543357, 11547468, 2229156, NP_065737.2:p.Gln56Arg, NC_000016.10:g.8746097=, NC_000016.9:g.8839954A>G, NG_008432.1:g.76511=, 59826454, NC_000016.9:g.8839954=, NC_000016.10:g.8746097A>G, NP_065737.2:p.Gln56=, 52831471 +PA166277061 rs17327624 PA267 ABCB1 NC_000007.14:87587501 1 0 0 0 0 NG_011513.1:g.130748C>T, NG_011513.1:g.130748C>A, rs17327624, NC_000007.14:g.87587501=, 17327624, NC_000007.14:g.87587501G>T, NC_000007.13:g.87216817G>T, NG_011513.1:g.130748=, NC_000007.14:g.87587501G>A, NC_000007.13:g.87216817=, 59332581, NC_000007.13:g.87216817G>A +PA166181000 rs17343066 PA426 SLC28A3 NC_000009.12:84331158 2 0 0 0 0 NC_000009.12:g.84331158G>A, NC_000009.12:g.84331158=, NC_000009.11:g.86946073=, 59362280, 17343066, rs17343066, NC_000009.11:g.86946073G>A +PA166157863 rs1734787 PA30729 MECP2 NC_000023.11:154059995 1 0 0 0 0 XM_005277851.1:c.27-27438T>G, XM_005277852.1:c.-365-20092T>G, AJ132917.1:c.27-27438T>G, XM_005274683.1:c.-2264T>G, rs17332596, NC_000023.11:g.154059995=, XM_005274681.1:c.27-27438T>G, XM_005274681.3:c.27-27438T>G, rs58354099, NG_007107.2:g.82133=, XM_005277853.1:c.-2264T>G, 17332596, 1734787, rs1734787, NM_001316337.1:c.-421-1429T>G, 56534075, rs56534075, NG_007107.2:g.82133T>G, 58354099, XM_005274682.1:c.-365-20092T>G, 61248129, NG_007107.2:g.82133T>C, NM_004992.3:c.27-27438T>G, NW_003871103.3:g.1493974A>C, XM_005274682.3:c.-365-20092T>G, NC_000023.10:g.153325446=, XM_011531165.1:c.-421-1429T>G, rs61248129, NC_000023.11:g.154059995A>G, NC_000023.10:g.153325446A>G, NC_000023.11:g.154059995A>C, XM_005274683.3:c.-2264T>G, NC_000023.10:g.153325446A>C, NM_001110792.1:c.63-27438T>G +PA166157864 rs1734791 PA30729 MECP2 NC_000023.11:154065469 1 0 0 0 0 NG_007107.2:g.76659T>G, XM_005277852.1:c.-365-25566T>A, XM_011531165.1:c.-421-6903T>A, NG_007107.2:g.76659T>C, XM_005274682.3:c.-365-25566T>A, NG_007107.2:g.76659T>A, NW_003871103.3:g.1499448A>T, XM_005277851.1:c.26+26715T>A, 111178553, 60889458, AJ132917.1:c.26+26722T>A, NM_001316337.1:c.-421-6903T>A, XM_005274682.1:c.-365-25566T>A, NC_000023.10:g.153330920A>T, NG_007107.2:g.76659=, NC_000023.11:g.154065469A>T, NC_000023.10:g.153330920A>G, rs60889458, XM_005274681.3:c.26+26715T>A, NC_000023.10:g.153330920=, rs111178553, NC_000023.11:g.154065469A>G, NM_004992.3:c.26+26722T>A, NC_000023.11:g.154065469A>C, rs1734791, NM_001110792.1:c.62+32141T>A, NC_000023.10:g.153330920A>C, 1734791, XM_005274681.1:c.26+26722T>A, NC_000023.11:g.154065469= +PA166153634 rs1736557 PA166 FMO3 NC_000001.11:171110939 4 2 0 0 0 NP_001306103.1:p.Val194Met, NP_001002294.1:p.Val257Met, XM_011509345.1:c.709G>A, 17858963, NG_012690.1:g.25063=, rs17845981, XP_005245100.1:p.Val237Met, 56477964, NP_001306102.1:p.Val237Met, NG_012690.1:g.25063G>A, 58508781, XP_011507648.1:p.Val237Met, NC_000001.10:g.171080080=, NP_008825.4:p.Val257=, NC_000001.11:g.171110939G>A, XP_005245101.1:p.Val194Met, NC_000001.11:g.171110939=, NM_001002294.2:c.769G>A, NP_008825.4:p.Val257Met, rs58508781, 17845981, NM_006894.4:c.769G>A, XM_005245043.1:c.709G>A, XM_011509346.1:c.709G>A, NM_001319174.1:c.580G>A, NM_006894.5:c.769G>A, XM_005245044.1:c.580G>A, XP_011507647.1:p.Val237Met, rs17858963, NM_001319173.1:c.709G>A, rs56477964, rs1736557, NC_000001.10:g.171080080G>A, 1736557 +PA166153872 rs17367421 PA28075,PA142672488 FDPS,RUSC1-AS1 NC_000001.11:155317450 1 0 0 0 0 NM_001242824.1:c.283-491G>C, NM_001242825.1:c.-33-491G>C, NC_000001.11:g.155317450G>C, NC_000001.11:g.155317450G>A, NM_001135821.1:c.481-491G>C, NM_001135822.1:c.283-491G>C, 17367421, XM_005244963.1:c.283-491G>C, NC_000001.10:g.155287241G>A, NC_000001.10:g.155287241G>C, NM_002004.3:c.481-491G>C, NC_000001.10:g.155287241=, NG_045218.1:g.13703=, NG_045218.1:g.13703G>C, XR_922170.1:n.-97C>G, NC_000001.11:g.155317450=, rs17367421, XM_005244962.1:c.283-491G>C, NG_045218.1:g.13703G>A +PA166153873 rs17367504 PA26551,PA245 CLCN6,MTHFR NC_000001.11:11802721 1 0 0 0 0 17367504, rs61351229, NC_000001.10:g.11862778A>G, NM_005957.4:c.236+160T>C, XM_005263458.2:c.359+160T>C, XM_005263458.1:c.359+160T>C, NG_013351.1:g.8383T>C, XM_011541495.1:c.356+160T>C, XM_005263463.1:c.-28+160T>C, 61351229, XM_005263460.1:c.236+160T>C, XM_005263463.2:c.-28+160T>C, XM_005263460.3:c.236+160T>C, NG_008766.1:g.1572=, NC_000001.11:g.11802721A>G, XM_005263461.3:c.236+160T>C, NC_000001.11:g.11802721=, NG_008766.1:g.1572A>G, XM_005263461.1:c.236+160T>C, rs17367504, XM_011541496.1:c.359+160T>C, XM_005263462.3:c.236+160T>C, NG_013351.1:g.8383=, XM_005263459.1:c.305+160T>C, XM_005263462.1:c.236+160T>C, NC_000001.10:g.11862778= +PA166186238 rs17376019 PA128394701 SRPRB NC_000003.12:133822039 2 1 0 0 0 NC_000003.11:g.133540883C>T, NC_000003.12:g.133822039=, rs17376019, NC_000003.11:g.133540883=, 17376019, 52837970, NC_000003.12:g.133822039C>T +PA166153874 rs17376848 PA145 DPYD NC_000001.11:97450068 19 2 0 1 0 XP_005270619.2:p.Phe560=, NG_008807.2:g.475992T>C, 117467766, XP_005270618.1:p.Phe595=, NM_000110.3:c.1896T>C, NC_000001.11:g.97450068A>G, XP_005270620.1:p.Phe632=, NP_000101.2:p.Phe632=, rs117467766, XM_005270561.1:c.1785T>C, rs58485702, NG_008807.2:g.475992=, XM_005270562.1:c.1680T>C, XM_005270563.1:c.1896T>C, XP_005270619.1:p.Phe560=, 52815410, 17376848, XP_006710460.1:p.Phe632=, NC_000001.10:g.97915624A>G, 58485702, NC_000001.10:g.97915624=, rs52815410, XM_006710397.2:c.1896T>C, NC_000001.11:g.97450068=, rs17376848, XM_005270562.3:c.1680T>C +PA166203443 rs1738074 PA38016 TAGAP NC_000006.12:159044945 1 0 0 0 0 rs1738074, NC_000006.12:g.159044945=, 1738074, NC_000006.12:g.159044945T>C, NG_011524.1:g.5208=, NG_011524.1:g.5208A>G, 58521505, NC_000006.11:g.159465977=, NC_000006.11:g.159465977T>C +PA166154647 rs17381194 PA25107 ATP2B1 NC_000012.12:89617318 1 0 0 0 0 17381194, XR_944556.1:n.2292-279A>G, NG_029485.2:g.97036=, 57218851, NM_001001323.1:c.1830-279A>G, XM_011538410.1:c.1830-279A>G, XM_005268918.1:c.1830-279A>G, XM_011538408.1:c.1830-279A>G, NC_000012.11:g.90011095=, XM_005268919.1:c.1830-279A>G, rs57218851, XM_011538411.1:c.1830-279A>G, NC_000012.12:g.89617318=, NM_001682.2:c.1830-279A>G, NG_029485.1:g.43750A>G, NC_000012.12:g.89617318T>C, XM_005268921.1:c.1830-279A>G, NG_029485.2:g.97036A>G, XM_011538407.1:c.1830-279A>G, NG_029485.1:g.43750=, XM_005268920.1:c.1830-279A>G, NC_000012.11:g.90011095T>C, rs17381194, XM_011538412.1:c.1830-279A>G, XM_011538409.1:c.1830-279A>G +PA166184312 rs17382202 PA33130 PDE4D NC_000005.10:59684120 1 1 0 0 0 58257498, NG_027957.1:g.808980=, NG_027957.2:g.845210=, NC_000005.10:g.59684120=, NC_000005.10:g.59684120C>T, rs17382202, NG_027957.2:g.845210G>A, 17382202, NC_000005.9:g.58979946=, NC_000005.9:g.58979946C>T, NG_027957.1:g.808980G>A +PA166160409 rs17408276 PA26491 CHRNA5 NC_000015.10:78589276 1 0 0 0 0 rs17408276, 17408276, NC_000015.9:g.78881618=, NG_023328.1:g.28757=, NC_000015.9:g.78881618T>C, NG_023328.1:g.28757T>C, NC_000015.10:g.78589276=, NC_000015.10:g.78589276T>C +PA166153635 rs1741981 PA29226 HDAC1 NC_000001.11:32290838 2 1 0 0 0 NC_000001.11:g.32290838=, NC_000001.10:g.32756439T>C, NM_004964.2:c.-1332T>C, NG_047018.1:g.3732=, XM_005270791.1:c.-1638T>C, NC_000001.10:g.32756439T>A, rs1741981, 1741981, NC_000001.11:g.32290838T>A, 36212120, NC_000001.10:g.32756439=, rs36212120, NC_000001.11:g.32290838T>C, NG_047018.1:g.3732T>A, NG_047018.1:g.3732T>C +PA166153875 rs17421511 PA245 MTHFR NC_000001.11:11797731 1 1 0 0 0 rs52805472, XM_005263462.1:c.587-1332C>T, NC_000001.11:g.11797731G>A, XM_005263462.3:c.587-1332C>T, 17421511, XM_005263458.1:c.710-1332C>T, XM_005263463.2:c.341-1332C>T, XM_005263461.3:c.587-1332C>T, NC_000001.10:g.11857788G>A, NG_013351.1:g.13373C>T, XM_005263460.3:c.587-1332C>T, NG_013351.1:g.13373=, XM_005263458.2:c.710-1332C>T, XM_005263461.1:c.587-1332C>T, XM_005263463.1:c.341-1332C>T, XM_011541496.1:c.710-1332C>T, NM_005957.4:c.587-1332C>T, 386543626, 52805472, XM_005263459.1:c.656-1332C>T, NC_000001.10:g.11857788=, rs386543626, NC_000001.11:g.11797731=, XM_005263460.1:c.587-1332C>T, rs17421511, XM_011541495.1:c.707-1332C>T +PA166157841 rs17428030 PA426 SLC28A3 NC_000009.12:84338706 1 0 0 0 0 NR_037638.2:n.206+1868T>C, NC_000009.11:g.86953621=, NM_022127.2:c.60+1868T>C, rs17428030, NM_001199633.1:c.60+1868T>C, NC_000009.12:g.84338706=, XM_011518907.1:c.-97-25252T>C, XM_011518905.1:c.60+1868T>C, XR_929832.1:n.187+1868T>C, XM_011518909.1:c.60+1868T>C, 61131364, NC_000009.12:g.84338706A>G, rs61131364, NC_000009.11:g.86953621A>G, XM_011518906.1:c.60+1868T>C, XM_011518910.1:c.60+1868T>C, 17428030 +PA166154164 rs17431184 PA33942 PTEN NC_000010.11:87960494 1 1 0 0 0 XM_011539981.1:c.802-400T>C, rs60289874, NG_007466.2:g.102056T>C, rs17431184, NM_000314.4:c.802-400T>C, NC_000010.11:g.87960494=, NC_000010.10:g.89720251=, NC_000010.11:g.87960494T>C, NG_007466.2:g.102056=, 60289874, XR_945791.1:n.1372-400T>C, XM_011539982.1:c.706-400T>C, 17431184, NC_000010.10:g.89720251T>C, NM_001304717.2:c.1321-400T>C, NM_000314.6:c.802-400T>C, NM_001304718.1:c.211-400T>C, XM_006717926.2:c.757-400T>C +PA166157850 rs17435 PA30729 MECP2 NC_000023.11:154046529 1 0 0 0 0 rs17435, NW_003871103.3:g.1480508T>A, XM_011531166.1:c.-254+1988A>T, NC_000023.11:g.154046529=, XM_005277851.1:c.27-13972A>T, AJ132917.1:c.27-13972A>T, NG_007107.2:g.95599A>T, XM_005274681.1:c.27-13972A>T, NM_001316337.1:c.-254+11870A>T, NG_007107.2:g.95599=, XM_005277853.1:c.-254+10412A>T, XM_005274681.3:c.27-13972A>T, NC_000023.10:g.153311980T>A, NG_007107.2:g.95599A>G, NC_000023.10:g.153311980T>C, XM_005274682.3:c.-365-6626A>T, NC_000023.10:g.153311980=, NC_000023.11:g.154046529T>C, XM_011531165.1:c.-254+11870A>T, 60248475, 61484111, NC_000023.11:g.154046529T>A, NM_004992.3:c.27-13972A>T, XM_005274683.3:c.-254+10412A>T, rs60248475, rs61484111, XM_005277852.1:c.-365-6626A>T, XM_005274683.1:c.-254+10412A>T, NM_001110792.1:c.63-13972A>T, 17435, XM_005274682.1:c.-365-6626A>T +PA166170278 rs17446819 PA26293 CDH2 NC_000018.10:28136925 1 1 0 0 0 NC_000018.10:g.28136925A>C, NC_000018.9:g.25716889=, 17446819, rs17446819, NG_011959.1:g.45557=, NG_011959.1:g.45557T>G, NC_000018.9:g.25716889A>C, 17536500, NC_000018.10:g.28136925= +PA166170014 rs174538 PA28090,PA164722907,PA25478 FEN1,MIR611,TMEM258 NC_000011.10:61792609 1 0 0 0 0 174538, NC_000011.9:g.61560081G>T, rs174538, NC_000011.10:g.61792609G>T, 618366, NC_000011.10:g.61792609G>A, NC_000011.9:g.61560081G>A, NC_000011.9:g.61560081=, 59434532, 695866, NC_000011.10:g.61792609=, 36203057 +PA166154268 rs174541 PA27973,PA28090,PA164722907,PA25478 FADS1,FEN1,MIR611,TMEM258 NC_000011.10:61798436 1 0 0 0 0 NC_000011.10:g.61798436T>C, 506413, 174541, rs174541, NC_000011.9:g.61565908=, NC_000011.10:g.61798436=, rs506413, NC_000011.9:g.61565908T>C +PA166157842 rs17461620 PA134971144 TUT7 NC_000009.12:86348093 1 0 0 0 0 NC_000009.11:g.88963008C>T, rs17461620, XM_005252208.2:c.521-1613G>A, rs52825621, 52825621, XM_006717283.1:c.521-1613G>A, NM_001185074.1:c.521-1613G>A, XM_005252207.1:c.521-1613G>A, XM_011519015.1:c.521-1613G>A, XM_011519012.1:c.521-1613G>A, 17461620, NM_001185059.1:c.521-1613G>A, 59590228, NM_024617.3:c.521-1613G>A, XM_005252209.2:c.521-1613G>A, NC_000009.12:g.86348093=, XM_005252208.1:c.521-1613G>A, XM_011519017.1:c.521-1613G>A, XM_011519014.1:c.521-1613G>A, XM_005252205.1:c.521-1613G>A, XM_011519011.1:c.521-1613G>A, rs59590228, XM_005252207.2:c.521-1613G>A, NC_000009.12:g.86348093C>T, XM_005252206.1:c.521-1613G>A, XM_005252209.1:c.521-1613G>A, NC_000009.11:g.88963008=, XM_011519016.1:c.521-1613G>A, XM_011519013.1:c.521-1613G>A +PA166232251 rs174675 PA117 COMT NC_000022.11:19946528 1 0 0 0 0 NG_011835.1:g.309=, 9332330, rs174675, NG_011526.1:g.9789T>C, NC_000022.11:g.19946528T>C, NC_000022.10:g.19934051=, NC_000022.11:g.19946528=, 1210730, 174675, NC_000022.10:g.19934051T>C, NG_011526.1:g.9789=, 60381112, NG_011835.1:g.309A>G +PA166178599 rs174696 PA117 COMT NC_000022.11:19965653 1 0 0 0 0 NG_011526.1:g.28914=, NC_000022.11:g.19965653C>T, rs174696, NC_000022.10:g.19953176C>A, NC_000022.10:g.19953176=, NC_000022.10:g.19953176C>T, NG_011526.1:g.28914C>A, 361926, 174696, NC_000022.11:g.19965653=, NC_000022.11:g.19965653C>A, 57280722, NG_011526.1:g.28914C>T +PA166156049 rs174699 PA25018,PA117 ARVCF,COMT NC_000022.11:19966935 2 0 0 0 0 59292400, NC_000022.10:g.19954458C>T, rs59292400, NG_011526.1:g.30196C>T, XM_011529887.1:c.616-229C>T, XM_011529885.1:c.730-229C>T, XM_011530182.1:c.*41G>A, XM_005261229.1:c.616-1601C>T, XM_011529890.1:c.616-229C>T, XM_011529891.1:c.616-229C>T, NM_000754.3:c.616-1601C>T, XM_011529888.1:c.616-229C>T, XM_005261242.1:c.*41G>A, NC_000022.11:g.19966935=, rs174699, NC_000022.10:g.19954458=, rs361592, NM_001135162.1:c.616-1601C>T, 59837580, XM_006724246.2:c.*41G>A, NG_011526.1:g.30196=, NM_001135161.1:c.616-1601C>T, NM_007310.2:c.466-1601C>T, XM_006724243.1:c.*41G>A, XM_011529889.1:c.616-229C>T, XM_011530179.1:c.*41G>A, 174699, NC_000022.11:g.19966935C>T, 361592, XM_011529886.1:c.730-1601C>T, rs59837580 +PA166170209 rs17470762 PA145 DPYD NC_000001.11:97078076 1 0 0 0 0 NG_008807.2:g.847984=, rs17470762, 199469572, NC_000001.11:g.97078076=, 17470762, NC_000001.11:g.97078076A>G, NG_008807.2:g.847984T>C, NC_000001.10:g.97543632A>G, NC_000001.10:g.97543632= +PA166157477 rs17470799 PA134887081 COL26A1 NC_000007.14:101531818 1 0 0 0 0 NC_000007.13:g.101175099=, NG_033785.2:g.173999=, rs57855663, 57855663, NC_000007.13:g.101175099G>A, NC_000007.14:g.101531818G>A, NM_001278563.2:c.386-1264G>A, 17470799, NC_000007.14:g.101531818=, rs17470799, NM_133457.4:c.380-1264G>A, NG_033785.2:g.173999G>A +PA166156887 rs17495520 PA134909677 TENM2 NC_000005.10:167212900 1 1 0 0 0 rs17495520, 17495520, rs59210228, NC_000005.9:g.166639905=, 59210228, NC_000005.10:g.167212900C>T, NC_000005.9:g.166639905C>T, XM_011534604.1:c.-74-71864C>T, XM_005265950.1:c.-74-71864C>T, NC_000005.10:g.167212900=, XM_006714897.1:c.-74-71864C>T +PA166185439 rs17501011 PA244 ABCC1 NC_000016.10:15987266 1 0 0 0 0 NG_028268.1:g.42690G>A, 59120043, NC_000016.9:g.16081123=, NG_028268.2:g.42690G>A, NG_028268.1:g.42690=, 17501011, NC_000016.10:g.15987266=, NC_000016.10:g.15987266G>A, NG_028268.2:g.42690=, rs17501011, NC_000016.9:g.16081123G>A +PA166161570 rs17501331 PA244 ABCC1 NC_000016.10:15995584 1 1 0 0 0 NC_000016.10:g.15995584=, NG_028268.1:g.51008A>G, NC_000016.10:g.15995584A>G, NG_028268.2:g.51008=, NG_028268.1:g.51008=, NC_000016.9:g.16089441A>G, rs17501331, 58704699, NC_000016.9:g.16089441=, 17501331, NG_028268.2:g.51008A>G +PA166154702 rs1751034 PA397 ABCC4 NC_000013.11:95062722 9 1 0 0 0 58764238, NC_000013.10:g.95714976C>G, NP_005836.2:p.Lys1116=, NC_000013.11:g.95062722C>T, XM_006719914.1:c.3258G>A, NC_000013.10:g.95714976=, NC_000013.10:g.95714976C>T, XM_005254025.1:c.3219G>A, NC_000013.11:g.95062722C>G, XM_011521047.1:c.2799G>A, XP_005254084.1:p.Lys1041=, rs57270423, NP_001288758.1:p.Lys1069=, rs1751034, XP_005254083.1:p.Lys1069=, 1751034, XM_005254026.1:c.3207G>A, XM_005254027.1:c.3123G>A, 57270423, NM_005845.4:c.3348G>A, XP_005254082.1:p.Lys1073=, XM_005254025.2:c.3219G>A, NG_050651.1:g.243725=, NP_005836.2:p.Lys1116Asn, NM_001301829.1:c.3207G>A, NG_050651.1:g.243725G>C, XP_011519349.1:p.Lys933=, NG_050651.1:g.243725G>A, XP_006719977.1:p.Lys1086=, NC_000013.11:g.95062722=, rs58764238 +PA166155843 rs17514110 PA25094 ATIC NC_000002.12:215340761 1 0 0 0 0 NG_013002.1:g.33806=, rs17514110, NC_000002.12:g.215340761C>T, 17514110, NC_000002.11:g.216205484C>T, NC_000002.11:g.216205484=, NM_004044.6:c.1227+1854C>T, rs60876088, NC_000002.12:g.215340761=, NG_013002.1:g.33806C>T, 60876088 +PA166165159 rs17535305 PA134938043 DISP1 NC_000001.11:222854779 1 0 0 0 0 NC_000001.10:g.223028121C>G, NG_009243.2:g.44691=, rs17535305, NG_009243.2:g.44691C>G, NC_000001.11:g.222854779=, NC_000001.10:g.223028121=, NC_000001.11:g.222854779C>G, 17535305 +PA166233161 rs17561 PA29807 IL1A NC_000002.12:112779646 1 0 0 0 0 386543959, 17561, NG_008850.1:g.10749=, NC_000002.12:g.112779646C>A, NP_000566.3:p.Ala114=, 3783542, NP_000566.3:p.Ala114Ser, 17411697, NC_000002.11:g.113537223C>A, 52796584, NC_000002.11:g.113537223=, 1799942, NG_008850.1:g.10749G>T, rs17561, 1126753, NC_000002.12:g.112779646=, 60436142, 11539014, 3181980 +PA166157652 rs17570753 PA30701 MCPH1 NC_000008.11:6644838 1 0 0 0 0 NG_016619.2:g.243247T>A, 17570753, NC_000008.10:g.6502359=, NG_016619.1:g.243247T>A, NR_125386.1:n.70-17528A>T, NC_000008.11:g.6644838=, NC_000008.11:g.6644838T>A, NG_016619.2:g.243247=, rs17570753, NC_000008.10:g.6502359T>A +PA166165165 rs17571991 NC_000004.12:162426924 1 0 0 0 0 NC_000004.11:g.163348076=, NC_000004.11:g.163348076G>A, NC_000004.12:g.162426924=, 17571991, rs17571991, NC_000004.12:g.162426924G>A +PA166155588 rs17574 PA27467 DPP4 NC_000002.12:162073469 1 0 0 0 0 rs17848915, XM_005246371.2:c.24T>C, rs17398460, NC_000002.11:g.162929979=, NM_001935.3:c.24T>C, XM_005246371.1:c.24T>C, 17848915, XR_923542.1:n.-839A>G, XR_923539.1:n.-548A>G, NP_001926.2:p.Leu8=, NC_000002.12:g.162073469A>G, 17398460, XR_923543.1:n.-839A>G, XR_923534.1:n.-839A>G, XR_923533.1:n.-839A>G, XR_923535.1:n.-839A>G, rs17574, XP_005246428.1:p.Leu8=, 17574, XR_923537.1:n.-839A>G, XR_923536.1:n.-839A>G, NC_000002.12:g.162073469=, XR_923541.1:n.-839A>G, NC_000002.11:g.162929979A>G, XR_923540.1:n.-839A>G, XR_923538.1:n.-16A>G +PA166157193 rs17574269 PA134903108 DCBLD1 NC_000006.12:117494965 1 1 0 0 0 NC_000006.12:g.117494965A>G, XM_011535774.1:c.254-8802A>G, rs58365592, 17574269, 58365592, NC_000006.12:g.117494965=, XM_005266942.1:c.254-8802A>G, XM_011535771.1:c.-44-8802A>G, NC_000006.11:g.117816128=, NC_000006.11:g.117816128A>G, XM_006715463.1:c.254-8802A>G, XM_011535773.1:c.254-8802A>G, XM_005266941.1:c.254-8802A>G, XM_011535772.1:c.-44-8802A>G, rs17574269, NM_173674.2:c.113-8802A>G, XM_011535770.1:c.119-8802A>G +PA166170294 rs17577 PA30889 MMP9 NC_000020.11:46014472 1 0 0 0 0 NG_011468.1:g.10565G>A, 17577, 117998070, NP_004985.2:p.Arg668Gln, 11556879, NG_011468.1:g.10565=, NP_004985.2:p.Arg668Pro, 3197194, NC_000020.10:g.44643111=, NG_011468.1:g.10565G>C, 52794457, 2274756, NC_000020.10:g.44643111G>A, NC_000020.10:g.44643111G>C, 17402681, 58178187, NC_000020.11:g.46014472=, NC_000020.11:g.46014472G>C, NP_004985.2:p.Arg668=, NC_000020.11:g.46014472G>A, 17376226, rs17577 +PA166155844 rs17583889 PA190 HNMT NC_000002.12:137988469 2 1 0 0 0 rs17583889, NG_012966.1:g.29232C>A, NC_000002.11:g.138746039=, NC_000002.12:g.137988469C>A, 17583889, XM_011511063.1:c.89-12449C>A, NM_006895.2:c.191-12449C>A, XM_005263654.1:c.191-12449C>A, XM_011511064.1:c.-188-12449C>A, NC_000002.12:g.137988469=, NC_000002.11:g.138746039C>A, NG_012966.1:g.29232= +PA166184298 rs17584499 PA34013 PTPRD NC_000009.12:8879118 1 1 0 0 0 59558192, NG_033963.1:g.1738606=, NC_000009.12:g.8879118=, NC_000009.11:g.8879118=, NG_033963.1:g.1738606G>A, NG_033963.1:g.1738606G>T, 17584499, NC_000009.12:g.8879118C>T, NC_000009.11:g.8879118C>A, NC_000009.11:g.8879118C>T, rs17584499, NC_000009.12:g.8879118C>A +PA166199722 rs17587029 NC_000002.12:112624477 1 1 0 0 0 NC_000002.12:g.112624477=, 59717434, rs17587029, 17587029, NC_000002.11:g.113382054=, NC_000002.12:g.112624477A>G, NC_000002.11:g.113382054A>G +PA166155845 rs17587100 PA134890284 INSIG2 NC_000002.12:118080834 3 1 0 0 0 17587100, rs17587100, NC_000002.12:g.118080834A>C, NC_000002.12:g.118080834=, XM_011512305.1:c.697-3302T>G, NC_000002.11:g.118838410A>C, NC_000002.11:g.118838410= +PA166179998 rs17601612 PA27478 DRD2 NC_000011.10:113447023 1 0 0 0 0 NG_008841.1:g.33257=, NC_000011.9:g.113317745=, NC_000011.9:g.113317745G>C, NG_008841.1:g.33257C>G, rs17601612, 17601612, NC_000011.10:g.113447023G>C, NC_000011.10:g.113447023= +PA166154471 rs17602038 NC_000011.10:113493969 1 0 0 0 0 rs17602038, 17602038, NC_000011.9:g.113364691=, NC_000011.10:g.113493969T>C, XR_948024.1:n.102-2779A>G, NC_000011.10:g.113493969=, NC_000011.9:g.113364691T>C +PA166153636 rs1760217 PA145 DPYD NC_000001.11:97137438 1 1 0 0 0 NC_000001.11:g.97137438A>G, NG_008807.2:g.788622T>C, XM_005270562.3:c.2407-38806T>C, NC_000001.10:g.97602994=, 1760217, NR_046590.1:n.64+41452A>G, rs1760217, 17472184, NC_000001.10:g.97602994A>G, XM_005270562.1:c.2407-38806T>C, NC_000001.11:g.97137438=, 58395723, NG_008807.2:g.788622=, XM_005270561.1:c.2512-38806T>C, rs17472184, NM_000110.3:c.2623-38806T>C, rs58395723 +PA166153876 rs17602729 PA24776 AMPD1 NC_000001.11:114693436 9 2 0 0 0 NG_008012.1:g.7120C>T, NC_000001.10:g.115236057G>A, rs17602729, rs52833197, NG_008012.1:g.7120C>A, NG_008012.1:g.7120=, NC_000001.11:g.114693436G>T, NP_000027.2:p.Gln45Lys, NC_000001.11:g.114693436G>A, NP_000027.2:p.Gln45=, NC_000001.11:g.114693436=, NC_000001.10:g.115236057=, NC_000001.10:g.115236057G>T, NM_000036.2:c.133C>T, NM_001172626.1:c.121+2014C>T, 17602729, AMPD1 34C>T (or G>A as complemented to the plus chromosomal strand), NP_000027.2:p.Gln45Ter, 52833197 +PA166238764 rs1760944 PA201059,PA32834 APEX1,OSGEP NC_000014.9:20454990 1 1 0 0 0 NG_008718.1:g.4860T>G, 1760944, NC_000014.9:g.20454990=, rs1760944, NG_008718.1:g.4860T>C, NC_000014.8:g.20923149T>C, 17551136, NC_000014.8:g.20923149T>G, 36219436, NG_046778.1:g.3447=, NG_008718.1:g.4860=, NC_000014.9:g.20454990T>G, NG_046778.1:g.3447T>C, NG_046778.1:g.3447T>G, NC_000014.8:g.20923149=, NC_000014.9:g.20454990T>C, 2073439, 386544092 +PA166184253 rs17614642 PA28162 FKBP5 NC_000006.12:35654144 1 1 0 0 0 rs17614642, 17614642, NC_000006.12:g.35654144=, NC_000006.11:g.35621921=, NC_000006.12:g.35654144T>C, NC_000006.11:g.35621921T>C, NG_012645.2:g.79440A>G, NG_012645.2:g.79440= +PA166155846 rs17626122 PA162398721 PARD3B NC_000002.12:205609288 1 1 0 0 0 XM_005246273.1:c.3261-6168T>C, NM_152526.5:c.3075-6168T>C, NC_000002.11:g.206474012=, XM_011510550.1:c.3321-908T>C, NM_057177.6:c.3054-6168T>C, XM_005246274.1:c.2664-6168T>C, rs56463399, NM_001302769.1:c.3261-6168T>C, NC_000002.11:g.206474012T>C, XM_011510551.1:c.3261-908T>C, rs57676795, NC_000002.12:g.205609288T>C, NC_000002.12:g.205609288=, 17626122, XM_011510552.1:c.3285-6168T>C, 56463399, 57676795, rs17626122, NM_205863.3:c.2958-6168T>C +PA166159101 rs17633730 NC_000002.12:67524241 1 0 0 0 0 17633730, NC_000002.11:g.67751373G>C, NC_000002.11:g.67751373G>T, NC_000002.11:g.67751373=, rs17633730, NC_000002.12:g.67524241=, NC_000002.12:g.67524241G>T, 57821820, NC_000002.12:g.67524241G>C +PA166155847 rs17645700 NC_000002.12:138023362 2 1 0 0 0 NC_000002.12:g.138023362T>C, NC_000002.11:g.138780932=, XR_244863.1:n.579-15566A>G, rs17645700, 17645700, NC_000002.11:g.138780932T>C, NC_000002.12:g.138023362= +PA166157699 rs17650 PA260 ORM1 NC_000009.12:114323246 1 0 0 0 0 NG_012108.1:g.5224G>A, NC_000009.12:g.114323246G>T, rs71503597, 17650, 71503597, NP_000598.2:p.Arg38Gln, rs1071593, NC_000009.12:g.114323246=, 1071593, 147960186, NC_000009.11:g.117085526=, NC_000009.12:g.114323246G>A, NM_000607.2:c.113G>A, NC_000009.11:g.117085526G>A, rs3181587, NG_012108.1:g.5224G>T, NP_000598.2:p.Arg38Leu, rs147960186, rs17650, 3181587, NP_000598.2:p.Arg38=, NC_000009.11:g.117085526G>T, NG_012108.1:g.5224= +PA166154677 rs17655 PA27851 ERCC5 NC_000013.11:102875652 8 1 0 0 0 NG_007146.1:g.34829G>C, NC_000013.10:g.103528002G>C, rs52825398, 3825521, 52825398, NG_007146.1:g.34829=, NP_000114.3:p.Asp1104=, rs3825521, NM_001204425.1:c.4672G>C, NP_000114.3:p.Asp1104His, NP_001191354.1:p.Asp1558His, NC_000013.11:g.102875652G>C, NC_000013.11:g.102875652=, NP_000114.2:p.Asp1104His, rs16960665, rs3188002, NC_000013.10:g.103528002=, NM_000123.3:c.3310G>C, 16960665, 17655, 3188002, rs17655 +PA166157478 rs17655652 PA31699 NPC1L1 NC_000007.14:44541392 2 1 0 0 0 NG_013088.1:g.4924A>G, NC_000007.14:g.44541392=, XM_011515326.1:c.-133A>G, rs58496691, rs17655652, NM_001101648.1:c.-133A>G, NM_001300967.1:c.-133A>G, NG_013088.1:g.4924=, NC_000007.13:g.44580991=, NC_000007.13:g.44580991T>C, 58496691, XM_005249723.1:c.-133A>G, XM_011515327.1:c.-133A>G, 17655652, NM_013389.2:c.-133A>G, NC_000007.14:g.44541392T>C +PA166156888 rs17661089 NC_000005.10:56810169 1 1 0 0 0 NC_000005.10:g.56810169A>G, NC_000005.10:g.56810169=, 17661089, 57476699, rs57476699, NG_031884.1:g.97A>G, NC_000005.9:g.56105996A>G, NC_000005.9:g.56105996=, NG_031884.1:g.97=, rs17661089 +PA166156889 rs17671591 PA189 HMGCR NC_000005.10:75319196 2 1 0 0 0 rs17671591, rs57833312, 57833312, NC_000005.9:g.74615021=, NC_000005.10:g.75319196C>T, 17671591, NC_000005.10:g.75319196=, NC_000005.9:g.74615021C>T +PA166283521 rs17682789 PA26287 CDH13 NC_000016.10:82981129 1 1 0 0 0 NC_000016.9:g.83014734=, NC_000016.9:g.83014734T>C, rs17682789, 17682789, NC_000016.10:g.82981129=, NG_052819.1:g.359336T>C, 56956157, NC_000016.10:g.82981129T>C, NG_052819.1:g.359336= +PA166176933 rs17685420 PA165585814 PEBP4 NC_000008.11:22927888 1 1 0 0 0 rs17685420, 17685420, NC_000008.10:g.22785401=, NC_000008.10:g.22785401C>T, NC_000008.11:g.22927888=, NC_000008.11:g.22927888C>T +PA166160204 rs17689966 PA26874 CRHR1 NC_000017.11:45833089 1 0 0 0 0 NG_009902.1:g.53828A>G, 57744019, 17689966, rs17689966, NC_000017.10:g.43910455G>A, NC_000017.10:g.43910455G>C, NC_000017.10:g.43910455=, 114493088, NC_000017.11:g.45833089=, 138745429, 117476796, NC_000017.11:g.45833089G>A, NC_000017.11:g.45833089G>C, NG_009902.1:g.53828A>C +PA166156673 rs17701271 NC_000004.12:141790090 1 1 0 0 0 rs17701271, NC_000004.11:g.142711243=, NC_000004.12:g.141790090C>A, rs60998133, 17701271, NC_000004.11:g.142711243C>A, NC_000004.12:g.141790090=, 60998133 +PA166155119 rs17708472 PA133787052 VKORC1 NC_000016.10:31094032 8 1 0 0 0 NC_000016.9:g.31105353G>A, XM_005255568.1:c.173+525C>T, 386544324, rs17708472, NM_206824.2:c.173+525C>T, XM_011545945.1:c.173+525C>T, NC_000016.10:g.31094032=, XM_011545943.1:c.173+525C>T, XM_011545944.1:c.173+525C>T, NG_011564.1:g.5924C>T, XR_243303.1:n.822+525C>T, NM_024006.5:c.173+525C>T, XR_950848.1:n.961+525C>T, NG_011564.1:g.5924=, NC_000016.9:g.31105353=, NC_000016.10:g.31094032G>A, NM_001311311.1:c.173+525C>T, 6009 C>T on AY587020, rs386544324, 17708472 +PA166176944 rs17712523 PA26296 CDH23 NC_000010.11:71777857 1 1 0 0 0 17712523, 56502918, NC_000010.11:g.71777857G>A, rs17712523, NG_008835.1:g.385911G>A, NC_000010.10:g.73537614G>A, NG_008835.1:g.385911=, NP_071407.4:p.Val1675=, NP_071407.4:p.Val1675Ile, 52808163, NC_000010.10:g.73537614=, NC_000010.11:g.71777857= +PA166157653 rs17716295 PA31776 NRG1 NC_000008.11:32460401 1 1 0 0 0 NM_001160001.1:c.38-135429C>A, NC_000008.11:g.32460401=, XM_011544512.1:c.122-135427C>A, rs58517519, NC_000008.11:g.32460401C>A, NG_012005.1:g.825650C>A, NM_013962.2:c.746-135429C>A, 17716295, NC_000008.10:g.32317917C>A, rs17716295, NM_001159995.1:c.38-135429C>A, NG_012005.2:g.826180=, NG_012005.2:g.826180C>A, NC_000008.10:g.32317917=, NM_001159999.1:c.38-135429C>A, XM_005273488.1:c.122-135429C>A, 58517519 +PA166160571 rs17716942 PA38723 KCNH7 NC_000002.12:162404181 3 0 0 0 0 NC_000002.12:g.162404181=, NG_041938.1:g.439567A>G, NC_000002.11:g.163260691=, 17716942, NG_041938.1:g.439567=, NC_000002.12:g.162404181T>C, rs17716942, NC_000002.11:g.163260691T>C, 59708266 +PA166169474 rs17718347 PA36055 SPARC NC_000005.10:151679332 1 0 0 0 0 NG_042174.1:g.12723=, NC_000005.10:g.151679332C>T, rs17718347, NC_000005.10:g.151679332=, NC_000005.9:g.151058893C>T, 17718347, NC_000005.10:g.151679332C>G, NC_000005.9:g.151058893=, NC_000005.9:g.151058893C>G, NG_042174.1:g.12723G>A, 57579077, NG_042174.1:g.12723G>C +PA166177190 rs17724452 PA25504 ANO2 NC_000012.12:5916322 1 1 0 0 0 NC_000012.12:g.5916322C>A, NC_000012.11:g.6025488C>A, NC_000012.11:g.6025488=, rs17724452, 17724452, NC_000012.12:g.5916322= +PA166177191 rs17724464 PA25504 ANO2 NC_000012.12:5916418 1 1 0 0 0 rs17724464, NC_000012.12:g.5916418=, NC_000012.11:g.6025584=, NC_000012.11:g.6025584G>C, 17724464, NC_000012.12:g.5916418G>C +PA166177192 rs17724494 PA25504 ANO2 NC_000012.12:5918126 1 1 0 0 0 59156708, NC_000012.11:g.6027292C>T, NC_000012.11:g.6027292=, NC_000012.12:g.5918126=, rs17724494, 17724494, NC_000012.12:g.5918126C>T +PA166156674 rs17731538 PA390 ABCG2 NC_000004.12:88134227 3 1 0 0 0 57419238, XM_005263354.2:c.204-1592C>T, NC_000004.11:g.89055379G>A, NM_004827.2:c.204-1592C>T, XM_005263354.1:c.204-1592C>T, NG_032067.2:g.102096=, rs17731538, rs57419238, XM_011532420.1:c.204-1592C>T, NC_000004.12:g.88134227=, NC_000004.11:g.89055379=, NC_000004.12:g.88134227G>A, NM_001257386.1:c.204-1592C>T, XM_005263355.2:c.204-1592C>T, XM_005263355.1:c.204-1592C>T, 17731538, NG_032067.2:g.102096C>T, XM_005263356.1:c.204-1592C>T, XM_005263356.2:c.204-1592C>T +PA166156675 rs17731799 PA390 ABCG2 NC_000004.12:88147303 1 0 0 0 0 XM_005263354.1:c.-19-7289C>A, XM_005263355.2:c.-19-7289C>A, 74288523, NC_000004.11:g.89068455G>C, NC_000004.12:g.88147303G>A, NC_000004.11:g.89068455G>A, rs17731799, NC_000004.12:g.88147303G>C, NC_000004.12:g.88147303=, XM_005263356.1:c.-19-7289C>A, NM_004827.2:c.-19-7289C>A, NC_000004.11:g.89068455G>T, XM_005263355.1:c.-19-7289C>A, NM_001257386.1:c.-19-7289C>A, XM_011532420.1:c.-19-7289C>A, 17731799, NC_000004.12:g.88147303G>T, NG_032067.2:g.89020C>T, NC_000004.11:g.89068455=, XM_005263354.2:c.-19-7289C>A, NG_032067.2:g.89020=, NG_032067.2:g.89020C>G, XM_005263356.2:c.-19-7289C>A, NG_032067.2:g.89020C>A, rs74288523 +PA166199942 rs17740607 PA29233 HDC NC_000015.10:50263347 1 0 0 0 0 rs17740607, NG_027487.1:g.7619C>T, NP_002103.2:p.Thr31Arg, NG_027487.1:g.7619=, 17740607, NC_000015.9:g.50555544=, 52799745, NC_000015.9:g.50555544G>A, NP_002103.2:p.Thr31Met, NC_000015.10:g.50263347G>A, NC_000015.10:g.50263347=, NP_002103.2:p.Thr31=, 34750797, NG_027487.1:g.7619C>G, NC_000015.10:g.50263347G>C, NC_000015.9:g.50555544G>C +PA166184313 rs17742120 PA164722879,PA33130 MIR582,PDE4D NC_000005.10:59703216 1 1 0 0 0 rs17742120, NC_000005.9:g.58999042=, NC_000005.10:g.59703216=, NG_027957.1:g.789884=, NC_000005.10:g.59703216A>G, NG_027957.1:g.789884T>C, NG_027957.2:g.826114T>C, NG_027957.2:g.826114=, 56884239, NC_000005.9:g.58999042A>G, 17742120 +PA166155329 rs17751934 PA162395821 MEX3C NC_000018.10:51675444 1 1 0 0 0 NC_000018.9:g.49201814=, rs17751934, 17751934, NC_000018.10:g.51675444=, 59357801, rs59357801, NC_000018.9:g.49201814C>T, NW_003315959.1:g.152281G>A, NC_000018.10:g.51675444C>T +PA166153970 rs1775921 NC_000010.11:28756929 1 0 0 0 0 NC_000010.11:g.28756929C>A, NC_000010.10:g.29045858C>A, NC_000010.10:g.29045858C>G, 17564094, NC_000010.10:g.29045858C>T, NC_000010.11:g.28756929C>T, 17753790, NR_120652.1:n.197+12822C>T, NC_000010.10:g.29045858=, NC_000010.11:g.28756929=, rs17564094, NC_000010.11:g.28756929C>G, rs1775921, rs17753790, 1775921 +PA166160198 rs17763086 PA26874 CRHR1 NC_000017.11:45828115 1 0 0 0 0 NC_000017.10:g.43905481=, 56624663, NG_009902.1:g.48854=, NC_000017.10:g.43905481T>G, 140042848, 57435467, NG_009902.1:g.48854T>G, 17763086, rs17763086, NC_000017.11:g.45828115T>G, NC_000017.11:g.45828115=, 117899659 +PA166155330 rs17782313 PA30676 MC4R NC_000018.10:60183864 3 5 0 0 0 NC_000018.10:g.60183864T>C, NC_000018.9:g.57851097T>C, rs17782313, rs59090733, 59781239, rs59781239, 59090733, NC_000018.10:g.60183864=, NC_000018.9:g.57851097=, 17782313, NC_000018.10:g.60183864T>A, NC_000018.9:g.57851097T>A +PA166161166 rs177852 PA134868995 TTC6 NC_000014.9:37642665 1 0 0 0 0 NC_000014.8:g.38111870C>T, 460414, rs177852, 60432707, 177852, NC_000014.8:g.38111870=, NC_000014.9:g.37642665C>T, NC_000014.9:g.37642665= +PA166177193 rs17786394 PA25504 ANO2 NC_000012.12:5916924 1 1 0 0 0 17786394, NC_000012.12:g.5916924=, NC_000012.12:g.5916924T>C, NC_000012.11:g.6026090T>C, rs17786394, NC_000012.11:g.6026090=, NC_000012.11:g.6026090T>A, NC_000012.12:g.5916924T>A +PA166177194 rs17786400 PA25504 ANO2 NC_000012.12:5916985 1 1 0 0 0 NC_000012.11:g.6026151A>T, NC_000012.12:g.5916985A>T, NC_000012.11:g.6026151=, NC_000012.12:g.5916985A>G, 17786400, rs17786400, NC_000012.12:g.5916985=, NC_000012.11:g.6026151A>G +PA166177195 rs17786412 PA25504 ANO2 NC_000012.12:5917148 1 1 0 0 0 NC_000012.12:g.5917148=, NC_000012.11:g.6026314G>T, NC_000012.12:g.5917148G>T, NC_000012.12:g.5917148G>A, NC_000012.11:g.6026314G>A, NC_000012.11:g.6026314=, rs17786412, 17786412 +PA166157736 rs1778929 PA31818 NTRK2 NC_000009.12:84707625 1 1 0 0 0 NM_001291937.1:c.360-219T>C, rs17638282, 17638282, XM_005252003.1:c.360-219T>C, NG_012201.2:g.44075=, XM_005252007.2:c.360-219T>C, XM_005252007.1:c.360-219T>C, NC_000009.11:g.87322540=, 1778929, rs1778929, 74305438, NC_000009.12:g.84707625T>C, XM_005252004.1:c.360-219T>C, NM_001018064.2:c.360-219T>C, NC_000009.12:g.84707625=, XM_005252001.1:c.360-219T>C, XM_005252006.1:c.360-219T>C, rs74305438, XM_005252006.2:c.360-219T>C, NC_000009.11:g.87322540T>C, NG_012201.2:g.44075T>C, NM_006180.4:c.360-219T>C, XM_005252005.1:c.360-219T>C, XM_011518718.1:c.360-219T>C, XM_011518720.1:c.360-219T>C, NM_001018065.2:c.360-219T>C, NM_001007097.2:c.360-219T>C, XM_005252002.1:c.360-219T>C, NM_001018066.2:c.360-219T>C, XM_011518719.1:c.360-219T>C +PA166163345 rs1778933 PA31818 NTRK2 NC_000009.12:84709496 1 0 0 0 0 17450833, NC_000009.11:g.87324411C>G, NG_012201.2:g.45946C>A, NG_012201.2:g.45946C>G, 57027156, NC_000009.11:g.87324411C>A, NC_000009.12:g.84709496C>T, NC_000009.12:g.84709496=, NC_000009.12:g.84709496C>G, NG_012201.2:g.45946C>T, NC_000009.12:g.84709496C>A, NG_012201.2:g.45946=, rs1778933, NC_000009.11:g.87324411=, NC_000009.11:g.87324411C>T, 1778933 +PA166156466 rs17793693 PA281 PPARG NC_000003.12:12304472 1 0 0 0 0 17793693, NG_011749.1:g.21623C>G, 59306468, NM_138711.3:c.-76-7908C>A, NC_000003.12:g.12304472C>G, NC_000003.12:g.12304472=, XM_011533844.1:c.-76-7908C>A, NC_000003.12:g.12304472C>A, NM_005037.5:c.-3+16452C>A, NC_000003.11:g.12345971C>A, NC_000003.11:g.12345971=, NG_011749.1:g.21623=, NC_000003.11:g.12345971C>G, rs59306468, XM_011533841.1:c.-3+15338C>A, NM_138712.3:c.-76-7908C>A, rs17793693, NG_011749.1:g.21623C>A +PA166154755 rs17798800 NC_000013.11:34376390 1 0 0 0 0 17798800, rs17798800, NC_000013.10:g.34950527C>T, NC_000013.10:g.34950527=, NC_000013.11:g.34376390C>T, rs57038156, NC_000013.11:g.34376390=, 57038156, XR_941846.1:n.182+28266C>T, XR_941847.1:n.182+28266C>T, XR_941848.1:n.180+28266C>T +PA166196842 rs17817449 PA152208656 FTO NC_000016.10:53779455 1 0 0 0 0 NC_000016.9:g.53813367T>G, NC_000016.10:g.53779455T>G, NC_000016.9:g.53813367T>A, NG_012969.1:g.80493=, NG_012969.1:g.80493T>G, NC_000016.9:g.53813367=, NC_000016.10:g.53779455T>A, 17817449, NC_000016.10:g.53779455=, rs17817449, NG_012969.1:g.80493T>A +PA166155120 rs17822471 PA24393 ABCC11 NC_000016.10:48208468 2 0 0 0 0 NM_033151.3:c.1637C>T, rs52810988, XP_011521699.1:p.Thr227Met, XP_005256265.1:p.Thr546Met, 17822471, NP_115972.2:p.Thr546Met, XP_005256267.1:p.Thr546Met, NP_149163.2:p.Thr546=, NG_011522.1:g.31710C>T, 386492901, rs17822471, XM_011523397.1:c.680C>T, NP_660187.1:p.Thr546Met, NM_032583.3:c.1637C>T, rs386492901, NP_149163.2:p.Thr546Met, XP_005256266.1:p.Thr546Met, XM_005256210.1:c.1637C>T, NG_011522.1:g.31710=, XM_005256208.1:c.1637C>T, rs57560138, NC_000016.9:g.48242379=, XM_005256209.1:c.1637C>T, NC_000016.10:g.48208468G>A, XM_011523396.1:c.1439C>T, 52810988, NC_000016.9:g.48242379G>A, NC_000016.10:g.48208468=, XP_011521698.1:p.Thr480Met, XR_243432.1:n.1742C>T, NM_145186.2:c.1637C>T, 57560138 +PA166155121 rs17822931 PA24393 ABCC11 NC_000016.10:48224287 1 0 0 0 0 NP_660187.1:p.Gly180Arg, NC_000016.9:g.48258198C>G, XM_005256209.1:c.538G>A, XP_005256265.1:p.Gly180Arg, XM_005256210.1:c.538G>A, NP_149163.2:p.Gly180=, NC_000016.9:g.48258198C>T, rs58140753, XP_005256267.1:p.Gly180Arg, XP_011521698.1:p.Gly114Arg, XM_011523397.1:c.-1144G>A, XR_243432.1:n.643G>A, NP_149163.2:p.Gly180Arg, NM_145186.2:c.538G>A, XM_005256208.1:c.538G>A, NC_000016.10:g.48224287C>T, 58140753, NC_000016.10:g.48224287=, XP_005256266.1:p.Gly180Arg, NG_011522.1:g.15891=, rs17822931, NG_011522.1:g.15891G>A, NG_011522.1:g.15891G>C, XM_011523396.1:c.340G>A, rs52813591, 17822931, NP_115972.2:p.Gly180Arg, NM_032583.3:c.538G>A, NC_000016.10:g.48224287C>G, NC_000016.9:g.48258198=, NM_033151.3:c.538G>A, 52813591 +PA166179656 rs17834628 NC_000005.10:12978454 1 0 0 0 0 NC_000005.10:g.12978454G>A, rs17834628, 34841954, NC_000005.9:g.12978566=, NC_000005.10:g.12978454=, 17834628, NC_000005.9:g.12978566G>A +PA166210014 rs1783835 NC_000011.10:121672215 1 1 0 0 0 1783835, NC_000011.10:g.121672215A>T, rs1783835, NC_000011.10:g.121672215A>G, 59465414, NC_000011.9:g.121542923=, NC_000011.9:g.121542923A>G, NC_000011.10:g.121672215=, NC_000011.9:g.121542923A>T +PA166157194 rs17839843 PA356 TPMT NC_000006.12:18143623 1 1 0 0 0 XP_011513141.1:p.Thr113=, NG_012137.2:g.16521=, XM_011514840.1:c.270C>T, NC_000006.11:g.18143854G>A, XP_011513142.1:p.Thr90=, NC_000006.12:g.18143623=, NP_000358.1:p.Thr113=, 61457799, NC_000006.11:g.18143854=, 17839843, NM_000367.3:c.339C>T, rs17839843, NG_012137.2:g.16521C>T, NC_000006.12:g.18143623G>A, XM_011514839.1:c.339C>T, rs61457799 +PA166322281 rs17844444 PA33040 PCDHB6 NC_000005.10:141152584 1 0 0 0 0 NC_000005.10:g.141152584=, NC_000005.9:g.140532165=, NG_000017.2:g.120717=, rs17844444, NC_000005.10:g.141152584G>A, NC_000005.10:g.141152584G>C, NC_000005.9:g.140532165G>A, NC_000005.9:g.140532165G>C, NP_061762.2:p.Gly776Ala, 17844444, NP_061762.2:p.Gly776Asp, NG_000017.2:g.120717G>A, NG_000017.2:g.120717G>C, NP_061762.2:p.Gly776= +PA166267562 rs17847029 PA126 CYP2C9 NC_000010.11:94981408 1 0 0 0 0 NC_000010.10:g.96741165=, NG_008385.2:g.48251C>T, NC_000010.10:g.96741165C>T, 17847029, NG_008385.2:g.48251=, NC_000010.11:g.94981408C>T, NC_000010.11:g.94981408=, rs17847029 +PA166207701 rs17847037 PA126 CYP2C9 NC_000010.11:94942308 2 0 0 0 0 NC_000010.11:g.94942308C>T, NC_000010.10:g.96702065=, NC_000010.11:g.94942308=, NG_008385.2:g.9151=, NC_000010.10:g.96702065C>T, NP_000762.2:p.Arg150Cys, rs17847037, NG_008385.1:g.8651C>T, 17847037, NP_000762.2:p.Arg150=, NG_008385.1:g.8651=, NG_008385.2:g.9151C>T +PA166155848 rs17848916 PA27467 DPP4 NC_000002.12:162047874 1 0 0 0 0 rs17848916, NC_000002.11:g.162904384=, NM_001935.3:c.95-373T>G, NC_000002.12:g.162047874=, NC_000002.11:g.162904384A>C, XM_005246371.2:c.95-376T>G, NC_000002.12:g.162047874A>C, 17848916, XM_005246371.1:c.95-376T>G +PA166155852 rs17863762 PA37183 UGT1A8 NC_000002.12:233618537 4 0 0 0 0 NC_000002.11:g.234527183=, NP_061949.3:p.Cys277=, rs52797488, rs17863762, NG_002601.2:g.33794=, NC_000002.12:g.233618537G>A, NC_000002.11:g.234527183G>A, NG_002601.2:g.33794G>A, NP_061949.3:p.Cys277Tyr, NM_019076.4:c.830G>A, 52797488, 17863762, NC_000002.12:g.233618537= +PA166155853 rs17863778 PA37174,PA37182,PA37183,PA419 UGT1A10,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233682328 8 2 1 0 0 NG_002601.2:g.97585C>G, NM_021027.2:c.855+9539C>A, XM_005246081.1:c.391C>A, NC_000002.12:g.233682328C>T, rs17863778, NP_061950.2:p.Arg131Gly, NM_019075.2:c.855+44951C>A, NG_002601.2:g.97585C>A, NC_000002.11:g.234590974C>G, NP_061950.2:p.Arg131=, NC_000002.11:g.234590974C>A, NC_000002.12:g.233682328=, NC_000002.12:g.233682328C>A, XP_005246138.1:p.Arg131=, NG_002601.2:g.97585=, NC_000002.12:g.233682328C>G, NC_000002.11:g.234590974=, NM_019076.4:c.855+63766C>A, NG_002601.2:g.97585C>T, 17863778, NM_019077.2:c.391C>A, XR_241241.1:n.941+9539C>A, NC_000002.11:g.234590974C>T, NP_061950.2:p.Arg131Ter +PA166155854 rs17863783 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233693631 6 1 0 1 0 NM_019076.4:c.856-73403G>T, 60686635, NC_000002.11:g.234602277=, NM_021027.2:c.855+20842G>T, rs17863783, NM_001072.3:c.627G>T, NM_019075.2:c.855+56254G>T, NC_000002.12:g.233693631G>T, XR_241240.1:n.788G>T, NG_002601.2:g.108888G>T, NM_205862.1:c.-7-168G>T, rs60686635, NC_000002.12:g.233693631=, NG_002601.2:g.108888=, XR_241241.1:n.941+20842G>T, 17863783, NC_000002.11:g.234602277G>T, NM_019077.2:c.855+10839G>T, NP_001063.2:p.Val209= +PA166155855 rs17868320 PA37174,PA37183,PA419 UGT1A10,UGT1A8,UGT1A9 NC_000002.12:233669782 6 2 0 0 0 NM_019075.2:c.855+32405C>T, NG_002601.2:g.85039=, NC_000002.11:g.234578428C>T, NG_002601.2:g.85039C>T, NC_000002.12:g.233669782C>T, rs17868320, NC_000002.11:g.234578428=, NC_000002.12:g.233669782=, NM_019076.4:c.855+51220C>T, 17868320 +PA166155857 rs17868323 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233682324 11 2 1 0 0 NC_000002.11:g.234590970T>G, NM_021027.2:c.855+9535T>G, XM_005246081.1:c.387T>G, NP_061950.2:p.Asn129=, rs17868323, NM_019075.2:c.855+44947T>G, NM_019077.2:c.387T>G, NC_000002.12:g.233682324T>A, NC_000002.11:g.234590970=, NG_002601.2:g.97581T>G, 17868323, XP_005246138.1:p.Asn129Lys, NG_002601.2:g.97581T>A, NC_000002.12:g.233682324=, NG_002601.2:g.97581=, NP_061950.2:p.Asn129Lys, NC_000002.12:g.233682324T>G, XR_241241.1:n.941+9535T>G, NC_000002.11:g.234590970T>A, NM_019076.4:c.855+63762T>G +PA166155858 rs17868324 PA37174,PA37182,PA37183,PA419 UGT1A10,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233682329 6 1 1 0 0 NP_061950.2:p.Arg131Pro, NG_002601.2:g.97586G>C, rs17868324, NP_061950.2:p.Arg131Gln, NG_002601.2:g.97586G>A, NC_000002.11:g.234590975G>C, NP_061950.2:p.Arg131=, 78725335, NC_000002.11:g.234590975G>A, NC_000002.12:g.233682329=, NC_000002.12:g.233682329G>A, NC_000002.12:g.233682329G>C, 17868324, NG_002601.2:g.97586=, NM_019075.2:c.855+44952G>A, NM_019076.4:c.855+63767G>A, NC_000002.11:g.234590975=, NM_019077.2:c.392G>A, XM_005246081.1:c.392G>A, XR_241241.1:n.941+9540G>A, rs78725335, NM_021027.2:c.855+9540G>A, XP_005246138.1:p.Arg131Gln +PA166153971 rs1786929 PA27010 CTNNA3 NC_000010.11:65919290 1 1 0 0 0 rs1786929, NC_000010.10:g.67679048A>T, NC_000010.11:g.65919290=, NC_000010.10:g.67679048=, XM_005269717.1:c.*1040T>C, 1786929, rs60427548, NG_034072.1:g.1781902T>A, NG_034072.1:g.1781902T>C, NC_000010.10:g.67679048A>G, NM_001127384.2:c.*1040T>C, NC_000010.11:g.65919290A>T, NM_013266.3:c.*1040T>C, NG_034072.1:g.1781902=, XM_005269717.2:c.*1040T>C, 60427548, NC_000010.11:g.65919290A>G +PA166154165 rs17878459 PA124 CYP2C19 NC_000010.11:94775165 4 0 0 0 0 NG_008384.3:g.17485G>A, rs59510926, NM_000769.2:c.276G>C, 17878459, NM_000769.2:c.276G>A, NG_008384.2:g.17460G>C, NG_008384.2:g.17460G>A, NP_000760.1:p.Glu92=, NC_000010.10:g.96534922=, NG_008384.3:g.17485=, rs17878459, 59510926, NC_000010.11:g.94775165=, NC_000010.10:g.96534922G>C, NP_000760.1:p.Glu92Asp, NC_000010.10:g.96534922G>A, NG_008384.3:g.17485G>C, NC_000010.11:g.94775165G>A, NM_000769.1:c.276G>C, NC_000010.11:g.94775165G>C, NM_000769.1:c.276G>A +PA166155122 rs17878544 PA133787052 VKORC1 NC_000016.10:31096606 2 1 0 0 0 NC_000016.9:g.31107927T>C, NM_024006.5:c.-1877A>G, 17878544, XM_005255568.1:c.-1877A>G, rs17878544, XR_243303.1:n.-1228A>G, XM_011545943.1:c.-1877A>G, NC_000016.10:g.31096606T>C, NG_011564.1:g.3350A>G, XR_950848.1:n.-269A>G, NC_000016.9:g.31107927=, NG_011564.1:g.3350=, NM_206824.2:c.-1877A>G, XM_011545945.1:c.-1490A>G, NC_000016.10:g.31096606=, XM_011545944.1:c.-1490A>G, NM_001311311.1:c.-1877A>G +PA166154168 rs17879685 PA124 CYP2C19 NC_000010.11:94849995 15 1 1 0 0 NG_008384.3:g.92315C>G, rs60806690, NC_000010.10:g.96609752C>G, NC_000010.11:g.94849995C>G, NC_000010.11:g.94849995=, NM_000769.1:c.1228C>T, NC_000010.10:g.96609752=, NP_000760.1:p.Arg410Gly, rs17879685, NM_000769.2:c.1228C>T, NG_008384.3:g.92315C>T, NP_000760.1:p.Arg410=, NC_000010.11:g.94849995C>T, NP_000760.1:p.Arg410Cys, NC_000010.10:g.96609752C>T, NG_008384.3:g.92315=, NG_008384.2:g.92290C>T, 17879685, 60806690 +PA166155123 rs17880887 PA133787052 VKORC1 NC_000016.10:31099180 2 1 0 0 0 NC_000016.10:g.31099180G>T, NC_000016.9:g.31110501G>T, rs17880887, NG_011564.1:g.776C>A, NC_000016.9:g.31110501=, 17880887, NG_011564.1:g.776=, NC_000016.10:g.31099180= +PA166154170 rs17882687 PA124 CYP2C19 NC_000010.11:94762760 15 1 1 0 0 NM_000769.1:c.55A>C, NC_000010.10:g.96522517=, 17882687, 59001945, NC_000010.11:g.94762760=, NG_055436.1:g.2120A>C, NG_055436.1:g.2120=, NC_000010.10:g.96522517A>C, NG_008384.2:g.5055A>C, rs17882687, NP_000760.1:p.Ile19Leu, NP_000760.1:p.Ile19=, rs59001945, NG_008384.3:g.5080=, NG_008384.3:g.5080A>C, NC_000010.11:g.94762760A>C, NM_000769.2:c.55A>C +PA166154171 rs17884712 PA124 CYP2C19 NC_000010.11:94775489 21 3 3 0 0 NG_008384.3:g.17809=, NP_000760.1:p.Arg144=, 17884712, NM_000769.2:c.431G>A, 59525653, NM_000769.1:c.431G>A, NM_000769.1:c.431G>C, NG_008384.3:g.17809G>A, NG_008384.3:g.17809G>C, NC_000010.11:g.94775489G>A, rs17884712, NC_000010.11:g.94775489G>C, NG_008384.2:g.17784G>A, NG_008384.2:g.17784G>C, NM_000769.2:c.431G>C, NC_000010.11:g.94775489=, NC_000010.10:g.96535246=, NC_000010.10:g.96535246G>A, NP_000760.1:p.Arg144Pro, NC_000010.10:g.96535246G>C, NP_000760.1:p.Arg144His, rs59525653 +PA166208022 rs17885179 PA124 CYP2C19 NC_000010.11:94775423 1 0 0 0 0 NC_000010.10:g.96535180A>C, NP_000760.1:p.Glu122Ala, NC_000010.11:g.94775423A>C, NG_008384.3:g.17743A>C, NG_008384.3:g.17743=, NP_000760.1:p.Glu122=, 17885179, rs17885179, NC_000010.11:g.94775423=, NC_000010.10:g.96535180= +PA166157195 rs17885382 PA35072 HLA-DRB1 NC_000006.12:32584318 1 1 0 0 0 NC_000006.11:g.32552095=, XP_011546039.1:p.Gln54Arg, NM_002124.3:c.161G>A, NM_002124.3:c.161G=, XM_011547738.1:c.161A>G, NG_002432.1:g.131586C>T, NG_002392.2:g.129409=, NT_167248.2:g.3784168C=, NT_167249.2:g.3985356C>T, NT_113891.3:g.4003199C=, NG_002432.1:g.131586=, NT_167246.2:g.3994009T=, NG_002432.1:g.131586C>A, NG_002392.2:g.129409C>A, NC_000006.12:g.32584318C=, NC_000006.11:g.32552095C>A, NP_002115.2:p.Arg54Leu, NM_001243965.1:c.161G=, NT_167247.1:g.?G>A, NG_029921.1:g.13249G=, NG_002392.2:g.129409C>T, NC_000006.11:g.32552095C>T, NT_167246.1:g.?G>A, NT_167246.2:g.3994009T>C, NT_167245.2:g.3819609T>C, NG_002433.1:g.137834C=, XM_011547738.1:c.161A=, NG_029921.1:g.13249=, NP_002115.2:p.Arg54=, rs17885382, NG_002433.1:g.137834C>A, NG_002392.2:g.129409C=, NT_167249.2:g.3985356C=, NC_000006.12:g.32584318C>T, XP_011546039.1:p.Gln54=, NP_001230894.1:p.Arg54Gln, XM_011547737.1:c.161A=, NG_002433.1:g.137834=, NG_002433.1:g.137834C>T, 28724100, NP_002115.2:p.Arg54Gln, XM_011547737.1:c.161A>G, NT_167248.2:g.3784168C>T, NT_167248.1:g.3789764C>T, NM_001243965.1:c.161G>A, XP_011546040.1:p.Gln54Arg, rs28724100, XP_011546040.1:p.Gln54=, NG_029921.1:g.13249G>T, NT_113891.3:g.4003199C>T, NC_000006.12:g.32584318=, NT_167249.1:g.?G>A, 17885382, NC_000006.12:g.32584318C>A, NG_029921.1:g.13249G>A, NP_001230894.1:p.Arg54=, NT_167245.2:g.3819609T=, XR_952713.1:n.-1843A>G, XR_952713.1:n.-1843G>A, NG_002432.1:g.131586C= +PA166155125 rs17886199 PA165450635,PA133787052 PRSS53,VKORC1 NC_000016.10:31093126 1 1 0 0 0 rs17886199, XM_011545943.1:c.283+186T>C, NC_000016.10:g.31093126A>G, NM_001311311.1:c.283+186T>C, NG_011564.1:g.6830T>C, XR_950848.1:n.1071+186T>C, NC_000016.9:g.31104447A>G, 17886199, NC_000016.9:g.31104447=, NG_011564.1:g.6830=, XM_005255568.1:c.283+186T>C, XR_243303.1:n.832+186T>C, NM_206824.2:c.173+1431T>C, NM_024006.5:c.283+186T>C, XM_011545944.1:c.283+186T>C, NC_000016.10:g.31093126=, XM_011545945.1:c.173+1431T>C +PA166156520 rs1789891 PA24571 ADH1B NC_000004.12:99329262 1 0 0 0 0 NC_000004.11:g.100250419C>A, 1789891, NC_000004.12:g.99329262C>A, NC_000004.12:g.99329262=, rs1789891, NC_000004.11:g.100250419=, rs58189473, 58189473 +PA166157851 rs179008 PA38008 TLR7 NC_000023.11:12885540 2 1 0 0 0 629938, NG_012569.1:g.23458A>T, rs17256060, NC_000023.10:g.12903659A>C, NC_000023.11:g.12885540A>C, NC_000023.10:g.12903659=, NP_057646.1:p.Gln11Pro, NG_012569.1:g.23458=, NG_012569.1:g.23458A>C, NP_057646.1:p.Gln11=, rs629938, NC_000023.11:g.12885540=, NM_016562.3:c.32A>T, rs179008, NC_000023.10:g.12903659A>T, 179008, NC_000023.11:g.12885540A>T, 17256060, NP_057646.1:p.Gln11Leu +PA166304964 rs1790834 PA27068 CYB5A NC_000018.10:74281022 1 0 0 0 0 NC_000018.10:g.74281022G>A, 1790834, NC_000018.9:g.71948257=, NG_023211.1:g.15965=, NC_000018.10:g.74281022=, 58951362, NG_023211.1:g.15965C>T, rs1790834, NC_000018.9:g.71948257G>A +PA166154333 rs1792774 PA164717628 CARD16 NC_000011.10:105041826 1 0 0 0 0 rs17375541, 57988920, NM_052889.2:c.*44-107G>A, XM_011542583.1:c.479-107G>A, 17375541, NC_000011.10:g.105041826=, rs1792774, 1792774, NC_000011.10:g.105041826C>T, NM_001017534.1:c.275-107G>A, NC_000011.9:g.104912553=, rs57988920, NC_000011.9:g.104912553C>T +PA166154986 rs179619 NC_000016.10:13728502 1 0 0 0 0 NC_000016.9:g.13822359C>G, 59432423, 17199471, NC_000016.10:g.13728502C>T, rs59432423, 386545482, 179619, NC_000016.9:g.13822359C>T, NC_000016.10:g.13728502C>A, rs386545482, rs17199471, NC_000016.9:g.13822359C>A, rs179619, NC_000016.10:g.13728502=, NC_000016.10:g.13728502C>G, NC_000016.9:g.13822359= +PA166156326 rs1797912 PA281 PPARG NC_000003.12:12428740 1 0 0 0 0 XM_011533840.1:c.1187-5158A>C, XM_011533844.1:c.736-5158A>C, NC_000003.12:g.12428740=, NC_000003.11:g.12470239A>T, XM_011533843.1:c.820-5158A>C, NG_011749.1:g.145891=, NM_138711.3:c.1187-5158A>C, NG_011749.1:g.145891A>C, XM_011533841.1:c.1187-5158A>C, NC_000003.11:g.12470239A>C, NM_138712.3:c.1187-5158A>C, 59257271, XM_011533842.1:c.1270+11586A>C, NG_011749.1:g.145891A>T, rs17247893, NC_000003.12:g.12428740A>T, NM_005037.5:c.1187-5158A>C, rs59257271, NC_000003.11:g.12470239=, 3773361, rs3773361, 17247893, rs1797912, NC_000003.12:g.12428740A>C, NM_015869.4:c.1271-5158A>C, 1797912 +PA166154785 rs1799722 PA80 BDKRB2 NC_000014.9:96204802 9 4 0 0 0 NC_000014.8:g.96671139C>T, NC_000014.9:g.96204802C>G, NM_000623.3:c.-192C>T, XM_005267979.1:c.-197C>T, XM_005267981.1:c.-439C>T, NC_000014.8:g.96671139=, NC_000014.9:g.96204802C>T, 60242377, NC_000014.8:g.96671139C>G, XM_005267980.1:c.-2965C>T, 1799722, NC_000014.9:g.96204802=, rs1799722, rs60242377 +PA166156988 rs1799724 PA30474,PA435 LTA,TNF NC_000006.12:31574705 11 1 0 0 0 NT_167247.1:g.2922188C>T, XM_011547883.1:c.*1012C>T, XM_011547885.1:c.*1012C>T, NC_000006.11:g.31542482=, XM_011547887.1:c.*1012C>T, NC_000006.12:g.31574705C>T, XR_952245.1:n.-1983G>A, NG_007462.1:g.4133=, XM_011548438.1:c.*1012C>T, XM_011547654.1:c.*1012C>T, NT_167245.2:g.2822438C>T, XM_011514617.1:c.*1012C>T, rs1799724, NC_000006.12:g.31574705=, 1799724, XM_011514615.1:c.*1012C>T, rs4151108, 117934520, 112098114, NM_001159740.2:c.*1012C>T, rs36205301, XM_011548243.1:c.*1012C>T, NC_000006.11:g.31542482C>T, XM_011548242.1:c.*1012C>T, NM_000595.3:c.*1012C>T, 114464955, NT_167249.1:g.2873283C>T, XM_011547884.1:c.*1012C>T, 3807038, rs114464955, rs3807038, XM_011548051.1:c.*1012C>T, XM_011547886.1:c.*1012C>T, XM_011514618.1:c.*1012C>T, XM_011547250.1:c.*1012C>T, NT_167248.1:g.2836120C>T, XM_011547653.1:c.*1012C>T, XM_011548439.1:c.*1012C>T, XM_011548440.1:c.*1012C>T, NT_167245.1:g.2828023C>T, NT_167249.2:g.2873985C>T, XM_011514616.1:c.*1012C>T, XM_011514614.1:c.*1012C>T, 4151108, NT_167246.2:g.2879746C>T, rs117934520, NT_113891.2:g.3052098C>T, NG_012010.1:g.7607=, NT_167248.2:g.2830524C>T, NG_007462.1:g.4133C>T, NT_167246.1:g.2885366C>T, XM_011548437.1:c.*1012C>T, XM_011548436.1:c.*1012C>T, NT_167247.2:g.2916603C>T, NG_012010.1:g.7607C>T, NM_000594.3:c.-1037C>T, rs112098114, XM_011548050.1:c.*1012C>T, NT_113891.3:g.3051992C>T, 36205301 +PA166154334 rs1799732 PA27478 DRD2 NC_000011.10:113475531 30 9 0 0 0 XM_005271425.1:c.-32+128_-32+129insC, rs1799732, NC_000011.9:g.113346251_113346252insG, rs144707848, NC_000011.9:g.113346252=, rs72523179, 143987432, XR_948023.1:n.528_529insC, 72566141, NG_008841.1:g.4750dup, NC_000011.10:g.113475529_113475530insG, NM_016574.3:c.-486_-485insC, NG_008841.1:g.4750=, NG_008841.1:g.4750_4751insC, rs143987432, NC_000011.9:g.113346252dup, NM_000795.3:c.-486_-485insC, rs72566141, 1799732, 72523179, NC_000011.10:g.113475530dup, 144707848, NC_000011.10:g.113475530= +PA166159214 rs1799735 PA29024 GSTM3 7 2 0 0 0 rs1799735, 1799735 +PA166155187 rs1799752 PA139 ACE NC_000017.11:63488544 79 16 0 0 0 NM_152830.2:c.584-119_584-118insG, NG_011648.1:g.16458_16471=, NG_011648.1:g.16471_16472insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT, NC_000017.10:g.61565891_61565904=, XM_005257110.1:c.1757-119_1757-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC, NC_000017.11:g.63488530_63488543=, NM_152830.2:c.584-119_584-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC, NC_000017.10:g.61565890_61565891insG, NC_000017.11:g.63488529_63488530insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC, XM_006721737.2:c.644-119_644-118insG, NM_001178057.1:c.584-119_584-118insG, NG_011648.1:g.16457_16458insG, NM_001178057.1:c.584-119_584-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC, NM_000789.3:c.2306-119_2306-118insG, rs13447447 (retired), NM_000789.3:c.2306-119_2306-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC, XM_006721737.2:c.644-119_644-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC, rs1799752, 1799752, rs4340 (retired), XM_005257110.1:c.1757-119_1757-118insG, rs4646994, NC_000017.10:g.61565890_61565891insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC, NG_011648.1:g.16457_16458insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC, NC_000017.11:g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT, NC_000017.10:g.61565904_61565905insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT, NC_000017.11:g.63488529_63488530insG +PA166282801 rs1799762 NC_000007.14:101126430 1 0 0 0 0 145125635, 147166758, NC_000007.13:g.100769710dup, 1799762, rs1799762, 11406947, 34857375, 72310593, 139304273, 72578597, NC_000007.13:g.100769707_100769710=, NC_000007.14:g.101126426_101126429=, NG_013213.1:g.4332dup, 368372116, 72594212, NC_000007.14:g.101126429dup, NG_013213.1:g.4329_4332= +PA166155370 rs1799782 PA369 XRCC1 NC_000019.10:43553422 11 2 0 0 0 rs1799782, rs386545546, 1799782, NG_033799.1:g.27157=, NP_006288.2:p.Arg194Trp, NM_006297.2:c.580C>T, NC_000019.10:g.43553422=, NP_006288.2:p.Arg194=, 386545546, 2229674, 3213359, rs2229674, rs3213359, NG_033799.1:g.27157C>T, NC_000019.10:g.43553422G>A, rs11553655, 3826914, rs3826914, NC_000019.9:g.44057574G>A, NC_000019.9:g.44057574=, 11553655 +PA166155371 rs1799793 PA27848 ERCC2 NC_000019.10:45364001 26 5 0 0 0 XM_005258640.1:c.700G>A, rs3916814, rs58989209, NC_000019.10:g.45364001C>A, NP_000391.1:p.Asp312Asn, 58989209, XP_005258697.1:p.Asp234Asn, NG_007067.2:g.11587G>A, XM_005258642.1:c.934G>A, NP_001124339.1:p.Asp288Asn, XM_005258639.1:c.862G>A, XM_011526611.1:c.856G>A, NP_000391.1:p.Asp312=, XP_005258698.1:p.Asp66Asn, NP_000391.1:p.Asp312Tyr, XR_935763.1:n.981G>A, 3916814, XP_005258696.1:p.Asp288Asn, NC_000019.10:g.45364001=, rs1799793, XP_005258699.1:p.Asp312Asn, 1799793, NC_000019.9:g.45867259C>T, NM_000400.3:c.934G>A, NG_007067.2:g.11587=, NC_000019.10:g.45364001C>T, NM_001130867.1:c.862G>A, NC_000019.9:g.45867259C>A, XM_005258641.1:c.196G>A, NG_007067.2:g.11587G>T, NC_000019.9:g.45867259=, XP_011524913.1:p.Asp286Asn +PA166154786 rs1799794 PA37422 XRCC3 NC_000014.9:103712930 1 0 0 0 0 rs1799794, NC_000014.8:g.104179267T>C, XM_011537138.1:c.-316A>G, NM_001100119.1:c.-316A>G, NM_005432.3:c.-316A>G, XM_005268048.1:c.-260-1363A>G, 1799794, rs3212034, 3212034, NG_011516.1:g.7557=, XM_005268047.1:c.-251A>G, NC_000014.9:g.103712930T>C, NM_001100118.1:c.-260-1363A>G, NC_000014.8:g.104179267=, NG_011516.1:g.7557A>G, XM_005268045.1:c.-316A>G, XM_005268046.1:c.-354-1269A>G, NC_000014.9:g.103712930= +PA166155016 rs1799801 PA27850 ERCC4 NC_000016.10:13948101 2 1 0 0 0 XR_243267.1:n.2511T>C, NC_000016.9:g.14041958T>C, XR_932805.1:n.2664T>C, XP_011520728.1:p.Ser572=, XM_011522426.1:c.1716T>C, NG_011442.1:g.32945=, XP_011520729.1:p.Ser385=, NP_005227.1:p.Ser835=, NM_005236.2:c.2505T>C, XP_011520726.1:p.Ser881=, NG_011442.1:g.32945T>C, XM_011522424.1:c.2643T>C, NC_000016.10:g.13948101T>C, XM_011522427.1:c.1155T>C, rs1799801, XP_011520727.1:p.Ser654=, 1799801, NC_000016.10:g.13948101=, NC_000016.9:g.14041958=, XM_011522425.1:c.1962T>C +PA166156327 rs1799807 PA25294 BCHE NC_000003.12:165830741 10 1 0 0 0 rs52796585, rs386545549, NC_000003.12:g.165830741=, NM_000055.2:c.293A>G, rs56541123, NP_000046.1:p.Asp98=, NC_000003.11:g.165548529T>C, 386545549, 1799807, NC_000003.12:g.165830741T>C, rs1799807, 56541123, NC_000003.11:g.165548529=, 52796585, NG_009031.1:g.11725A>G, NG_009031.1:g.11725=, NP_000046.1:p.Asp98Gly, XM_005247685.1:c.416A>G, XP_005247742.1:p.Asp139Gly +PA166155641 rs1799808 PA33799 PROC NC_000002.12:127418286 1 1 0 0 0 XM_005263717.3:c.-161C>T, NC_000002.12:g.127418286C>G, NC_000002.11:g.128175862=, NC_000002.11:g.128175862C>T, rs59400154, XM_005263715.1:c.-161C>T, NG_016323.1:g.4867C>T, NC_000002.12:g.127418286=, NM_000312.3:c.-228C>T, NG_016323.1:g.4867=, NC_000002.12:g.127418286C>T, rs1799808, 1799808, NC_000002.11:g.128175862C>G, XM_005263716.1:c.-161C>T, XM_005263717.1:c.-161C>T, 59400154, NG_016323.1:g.4867C>G, XM_005263715.3:c.-161C>T, XM_005263716.3:c.-161C>T +PA166155642 rs1799809 PA33799 PROC NC_000002.12:127418299 1 0 0 0 0 NC_000002.11:g.128175875G>A, rs59122016, XM_005263717.3:c.-148G>A, NC_000002.12:g.127418299G>T, NC_000002.11:g.128175875G>C, NG_016323.1:g.4880=, NG_016323.1:g.4880G>T, XM_005263717.1:c.-148G>A, XM_005263715.3:c.-148G>A, XM_005263716.3:c.-148G>A, rs1799809, NC_000002.12:g.127418299G>C, 1799809, NC_000002.12:g.127418299=, XM_005263716.1:c.-148G>A, NC_000002.11:g.128175875G>T, NC_000002.12:g.127418299G>A, NM_000312.3:c.-215G>A, NG_016323.1:g.4880G>C, NG_016323.1:g.4880G>A, NC_000002.11:g.128175875=, XM_005263715.1:c.-148G>A, 59122016 +PA166154868 rs1799814 PA27092 CYP1A1 NC_000015.10:74720646 1 0 0 0 0 4986876, NM_001319217.1:c.1382C>A, rs4986876, 386626647, XM_005254185.1:c.1382C>A, rs386626647, XP_005254243.1:p.Thr461Asn, NP_001306145.1:p.Thr432Asn, XM_005254186.1:c.1382C>A, NC_000015.10:g.74720646G>A, NG_008431.1:g.3105G>T, XM_005254189.1:c.599C>A, NP_000490.1:p.Thr461Ile, NM_000499.3:c.1382C>A, NG_008431.2:g.3105=, rs52803905, NG_061374.1:g.9883=, XM_005254187.1:c.1298C>A, NP_000490.1:p.Thr461=, NP_001306146.1:p.Thr461Asn, NC_000015.9:g.75012987=, NG_061374.1:g.9883C>A, NC_000015.10:g.74720646G>T, NC_000015.9:g.75012987G>T, 52803905, NC_000015.10:g.74720646=, NG_008431.2:g.3105G>T, XM_005254188.1:c.1295C>A, NM_000499.4:c.1382C>A, XP_005254242.1:p.Thr461Asn, NG_061374.1:g.9883C>T, NP_000490.1:p.Thr461Asn, NG_008431.2:g.3105G>A, XP_005254245.1:p.Thr432Asn, 17861093, XP_005254246.1:p.Thr200Asn, NC_000015.9:g.75012987G>A, XP_005254244.1:p.Thr433Asn, 1799814, rs4134575, 4134575, rs1799814, NM_001319216.1:c.1295C>A, rs17861093 +PA166170105 rs1799836 PA237 MAOB NC_000023.11:43768752 8 0 0 0 0 NC_000023.11:g.43768752T>C, NC_000023.10:g.43627999T>C, NC_000023.10:g.43627999T>A, 57263655, 17280819, NC_000023.10:g.43627999=, NG_008723.2:g.118724A>G, 386545552, NG_008723.2:g.118724A>T, 3765226, NC_000023.11:g.43768752=, 1799836, NC_000023.11:g.43768752T>A, rs1799836, NG_008723.2:g.118724= +PA166156328 rs1799852 PA36457 TF NC_000003.12:133756878 1 1 0 0 0 NP_001054.2:p.Leu247=, 8177231, rs8177231, 56714894, NG_013080.2:g.99881C>T, NP_001054.2:p.Leu247Met, XP_005247787.1:p.Leu120=, NC_000003.11:g.133475722C>T, NC_000003.12:g.133756878C>T, rs56714894, NG_013080.1:g.15746C>T, NP_001054.1:p.Leu247=, rs1799852, 1799852, 56561776, rs56561776, NG_013080.2:g.99881=, XM_005247730.1:c.358C>T, NC_000003.11:g.133475722C>A, NC_000003.12:g.133756878C>A, NG_013080.2:g.99881C>A, NM_001063.3:c.739C>T, XM_011513100.1:c.739C>T, NC_000003.11:g.133475722=, NC_000003.12:g.133756878=, XP_011511402.1:p.Leu247= +PA166153972 rs1799853 PA126 CYP2C9 NC_000010.11:94942290 432 37 34 0 0 XP_005269632.1:p.Arg144Cys, NM_000771.3:c.430C>T, rs28371674, rs60690363, NC_000010.11:g.94942290C>T, 33968134, NG_008385.1:g.8633=, XM_005269575.1:c.430C>T, XM_005269575.1:c.430C=, NG_008385.2:g.9133C>T, 28371674, NP_000762.2:p.Arg144=, NC_000010.11:g.94942290=, XP_005269632.1:p.Arg144=, NG_008385.1:g.8633C>T, NP_000762.2:p.Arg144Cys, rs33968134, NM_000771.3:c.430C=, rs17110268, rs1799853, NC_000010.10:g.96702047C=, NG_008385.2:g.9133=, NC_000010.10:g.96702047C>T, NC_000010.10:g.96702047=, 60690363, 1799853, NC_000010.11:g.94942290C=, 17110268, NG_008385.1:g.8633C= +PA166239022 rs1799854 PA24395 ABCC8 NC_000011.10:17427157 1 0 0 0 0 NG_008867.1:g.54746=, NC_000011.9:g.17448704=, NG_008867.1:g.54746C>G, NC_000011.9:g.17448704G>A, NC_000011.9:g.17448704G>C, NC_000011.10:g.17427157G>C, NC_000011.10:g.17427157G>A, NC_000011.10:g.17427157=, 17846733, 1799854, NG_008867.1:g.54746C>T, 56987241, 587783165, rs1799854 +PA166203081 rs1799857 PA24395 ABCC8 NC_000011.10:17430945 1 0 0 0 0 NC_000011.10:g.17430945G>A, 117938748, NC_000011.10:g.17430945=, NC_000011.9:g.17452492=, NG_008867.1:g.50958C>T, NG_008867.1:g.50958=, 61029020, NP_000343.2:p.His562=, rs1799857, NC_000011.9:g.17452492G>A, 17846728, 1799857 +PA166239023 rs1799859 PA24395 ABCC8 NC_000011.10:17397732 1 0 0 0 0 12787564, NC_000011.9:g.17419279=, 4148643, NG_008867.1:g.84171G>A, NC_000011.10:g.17397732=, NC_000011.10:g.17397732C>T, NC_000011.9:g.17419279C>T, NP_000343.2:p.Arg1273=, 17846763, 2229689, 57092202, rs1799859, 1799859, NG_008867.1:g.84171= +PA166156521 rs1799883 PA27957 FABP2 NC_000004.12:119320747 1 0 0 0 0 NP_000125.2:p.Thr55=, 1799883, rs1799883, NG_011444.1:g.6415A>T, NC_000004.11:g.120241902T>G, NP_000125.2:p.Thr55Ala, NP_000125.2:p.Thr55Ser, NC_000004.12:g.119320747=, NG_011444.1:g.6415=, 52836284, NC_000004.11:g.120241902=, NP_000125.2:p.Thr55Pro, NC_000004.12:g.119320747T>G, NC_000004.12:g.119320747T>A, rs117220903, NC_000004.12:g.119320747T>C, rs17694079, rs52836284, 117220903, NC_000004.11:g.120241902T>A, NC_000004.11:g.120241902T>C, NM_000134.3:c.163A>G, 17694079, NG_011444.1:g.6415A>C, NG_011444.1:g.6415A>G +PA166157302 rs1799889 PA261 SERPINE1 NC_000007.14:101126430 1 1 0 0 0 NC_000007.14:g.101126430A>G, NG_013213.1:g.4333A>G, 36228268, NM_000602.4:c.-816A>G, 57255496, NC_000007.13:g.100769711A>G, XM_005250392.1:c.-816A>G, rs36228268, NC_000007.14:g.101126430=, NG_013213.1:g.4333=, NC_000007.13:g.100769711=, rs1799889, 1799889, rs57255496 +PA166156522 rs1799895 PA36018 SOD3 NC_000004.12:24800212 1 0 0 0 0 NC_000004.11:g.24801834=, XR_427488.1:n.881C>G, NC_000004.11:g.24801834C>G, rs1799895, 1799895, NG_012213.1:g.9750=, NC_000004.12:g.24800212C>G, NM_003102.2:c.691C>G, 8192292, NC_000004.12:g.24800212=, rs8192292, XR_925483.1:n.1189G>C, NP_003093.2:p.Arg231=, NG_012213.1:g.9750C>G, NP_003093.2:p.Arg231Gly +PA166154335 rs1799913 PA355 TPH1 NC_000011.10:18025708 1 0 0 0 0 NC_000011.9:g.18047255G>T, XR_242819.1:n.652-7C>A, NG_011947.1:g.20081C>T, NM_004179.2:c.804-7C>A, NG_011947.2:g.20081C>A, NG_011947.2:g.20081=, NC_000011.10:g.18025708G>T, NC_000011.9:g.18047255=, 59448373, NG_011947.1:g.20081=, NC_000011.9:g.18047255G>A, NG_011947.2:g.20081C>T, NC_000011.10:g.18025708=, NC_000011.10:g.18025708G>A, NG_011947.1:g.20081C>A, rs59448373, 1799913, rs1799913 +PA166157563 rs1799929 PA18 NAT2 NC_000008.11:18400484 16 2 0 0 0 60310310, NC_000008.10:g.18257994=, XP_011542660.1:p.Leu161=, rs17595342, 58882350, rs58882350, NG_012246.1:g.14240=, NC_000008.11:g.18400484=, NM_000015.2:c.481C>T, rs4646268, 4646268, XM_011544358.1:c.481C>T, NP_000006.2:p.Leu161=, rs1799929, 1799929, NG_012246.1:g.14240C>T, rs60310310, 17595342, NC_000008.11:g.18400484C>T, NC_000008.10:g.18257994C>T +PA166157564 rs1799930 PA18 NAT2 NC_000008.11:18400593 102 10 8 0 0 XM_011544358.1:c.590G>A, NP_000006.2:p.Arg197=, NP_000006.2:p.Arg197Gln, 61467963, NG_012246.1:g.14349G>A, rs1799930, 60190029, rs17856496, rs61467963, NC_000008.10:g.18258103G>A, 17517027, 4646269, NC_000008.11:g.18400593=, rs4646269, NC_000008.10:g.18258103=, NC_000008.11:g.18400593G>A, NG_012246.1:g.14349=, NM_000015.2:c.590G>A, XP_011542660.1:p.Arg197Gln, 1799930, 17856496, rs17517027, rs60190029 +PA166157565 rs1799931 PA18 NAT2 NC_000008.11:18400860 88 11 8 0 0 XP_011542660.1:p.Gly286Glu, NC_000008.11:g.18400860G>A, NG_012246.1:g.14616G>A, rs4646270, rs58803786, rs17693862, NC_000008.11:g.18400860=, XM_011544358.1:c.857G>A, NP_000006.2:p.Gly286=, NP_000006.2:p.Gly286Glu, 52802193, NG_012246.1:g.14616=, NC_000008.10:g.18258370G>A, 1799931, 4646270, rs1799931, 58803786, 17693862, NC_000008.10:g.18258370=, rs52802193, NM_000015.2:c.857G>A +PA166153973 rs1799939 PA34335 RET NC_000010.11:43114671 4 0 0 0 0 NP_066124.1:p.Gly691=, NC_000010.11:g.43114671G>A, NP_066124.1:p.Gly691Arg, NM_020630.4:c.2071G>A, NC_000010.11:g.43114671G>C, XP_011538329.1:p.Gly691Ser, rs17857772, 17845010, rs3781260, 17362555, 3781260, NG_007489.1:g.42603G>T, NP_066124.1:p.Gly691Ser, NG_007489.1:g.42603G>C, rs17845010, NG_007489.1:g.42603G>A, XM_011540027.1:c.2071G>A, NC_000010.10:g.43610119G>T, NC_000010.10:g.43610119=, NM_020975.4:c.2071G>A, NP_066124.1:p.Gly691Cys, NP_065681.1:p.Gly691Ser, 1799939, NC_000010.11:g.43114671=, rs1799939, NC_000010.10:g.43610119G>A, NC_000010.10:g.43610119G>C, rs17362555, NC_000010.11:g.43114671G>T, NG_007489.1:g.42603=, 17857772 +PA166156989 rs1799945 PA29263 HFE NC_000006.12:26090951 3 0 0 0 0 NM_139008.2:c.77-363C>G, XM_005249040.1:c.187C>G, XP_011512846.1:p.His63Asp, NC_000006.11:g.26091179C>G, NP_620575.1:p.His63Tyr, XP_011512845.1:p.His63Asp, NM_139010.2:c.77-1734C>G, XM_011514544.1:c.187C>G, NC_000006.11:g.26091179=, NG_008720.2:g.8671C>G, XR_241893.2:n.309C>G, NM_139011.2:c.77-2168C>G, NC_000006.12:g.26090951C>G, NP_000401.1:p.His63Asp, rs17515604, NP_620575.1:p.His63Asp, rs1799945, NM_001300749.1:c.187C>G, XM_011514543.1:c.187C>G, 60366842, NM_139003.2:c.187C>G, NP_620578.1:p.His40Asp, 1799945, NG_008720.2:g.8671=, NP_001287678.1:p.His63Asp, NP_620575.1:p.His63=, rs60366842, NP_620573.1:p.His63Asp, NM_000410.3:c.187C>G, 17515604, NC_000006.12:g.26090951C>T, NM_139004.2:c.187C>G, XP_005249097.1:p.His63Asp, NP_620572.1:p.His63Asp, NM_139006.2:c.187C>G, NM_139009.2:c.118C>G, XR_241894.1:n.434C>G, 112961043, NG_008720.2:g.8671C>T, NC_000006.11:g.26091179C>T, NC_000006.12:g.26090951=, XR_241893.1:n.309C>G, NM_139007.2:c.77-363C>G, rs112961043 +PA166154336 rs1799963 PA157 F2 NC_000011.10:46739505 7 1 0 0 6 NG_008953.1:g.25313G>A, NC_000011.9:g.46761055=, NM_001311257.1:c.*97G>A, NC_000011.9:g.46761055G>A, NG_008953.1:g.25313=, rs1799963, NC_000011.10:g.46739505G>A, XR_428840.2:n.1828G>A, 1799963, NM_000506.4:c.*97G>A, NC_000011.10:g.46739505= +PA166156990 rs1799964 PA30474,PA435 LTA,TNF NC_000006.12:31574531 6 2 0 0 0 XM_011514614.1:c.*838C>T, XM_011547884.1:c.*838C>T, XR_952970.1:n.-1868A>G, XM_011514615.1:c.*838C>T, XM_011547886.1:c.*838C>T, XM_011547883.1:c.*838C>T, XM_011547887.1:c.*838C>T, 117348084, NM_000594.3:c.-1211T>C, XM_011547885.1:c.*838C>T, NT_167245.2:g.2822264C>T, XM_011547654.1:c.*838C>T, XM_011548436.1:c.*838C>T, NT_167246.1:g.2885192T=, XM_011547653.1:c.*838C>T, NT_167249.1:g.2873109T=, NC_000006.12:g.31574531=, XM_011548242.1:c.*838C>T, XM_011548437.1:c.*838C>T, XM_011514618.1:c.*838C>T, 1799964, rs1799964, XM_011514617.1:c.*838C>T, XM_011548243.1:c.*838C>T, 17207141, XM_011514616.1:c.*838C>T, 57009373, XR_952708.1:n.-1868G>A, XM_011548438.1:c.*838C>T, 115160975, rs36205303, XM_011548439.1:c.*838C>T, NT_167246.1:g.2885192T>C, rs7755285, NT_167246.2:g.2879572T>C, NT_167248.2:g.2830350C=, NT_167245.1:g.2827849C=, NT_167249.1:g.2873109T>C, NC_000006.12:g.31574531T=, NT_167248.1:g.2835946C=, XM_011548436.1:c.*838T>C, NM_001159740.2:c.*838C>T, XR_953043.1:n.-1868G>A, XR_952889.1:n.-1833A>G, XM_011548242.1:c.*838T>C, XM_011548437.1:c.*838T>C, NC_000006.12:g.31574531T>C, XR_952245.1:n.-1809G>A, XM_011548243.1:c.*838T>C, NG_007462.1:g.3959T>C, XR_953113.1:n.-1833A>G, NT_167248.2:g.2830350C>T, NT_113891.2:g.3051924T>C, XM_011547250.1:c.*838T>C, NT_167248.1:g.2835946C>T, NT_167245.1:g.2827849C>T, XM_011548438.1:c.*838T>C, NM_000595.3:c.*838C>T, XM_011548439.1:c.*838T>C, NG_007462.1:g.3959=, XR_926695.1:n.-1833A>G, 7755285, NT_113891.3:g.3051818T>C, XR_952970.1:n.-1868G>A, XM_011548440.1:c.*838T>C, NT_167245.2:g.2822264C=, NT_113891.2:g.3051924T=, NG_012010.1:g.7433T>C, NG_012010.1:g.7433=, 56648300, NM_001159740.2:c.*838T>C, NT_167247.1:g.2922014C>T, NT_167249.2:g.2873811T=, XM_011547250.1:c.*838C>T, rs56648300, XM_011548051.1:c.*838T>C, XR_952708.1:n.-1868A>G, NT_113891.3:g.3051818T=, XM_011548050.1:c.*838T>C, NM_000595.3:c.*838T>C, NT_167247.2:g.2916429C>T, NT_167247.1:g.2922014C=, NT_167247.2:g.2916429C=, XM_011514614.1:c.*838T>C, XM_011547884.1:c.*838T>C, XM_011514615.1:c.*838T>C, XM_011547886.1:c.*838T>C, XM_011547883.1:c.*838T>C, XM_011547887.1:c.*838T>C, XM_011548440.1:c.*838C>T, XM_011547885.1:c.*838T>C, NM_000594.3:c.-1211C>T, NT_167246.2:g.2879572T=, XM_011547654.1:c.*838T>C, NC_000006.11:g.31542308T=, XR_953043.1:n.-1868A>G, XM_011547653.1:c.*838T>C, XR_952889.1:n.-1833G>A, XM_011514618.1:c.*838T>C, XR_952245.1:n.-1809A>G, XM_011514617.1:c.*838T>C, XM_011514616.1:c.*838T>C, rs115160975, NC_000006.11:g.31542308=, XR_953113.1:n.-1833G>A, NT_167249.2:g.2873811T>C, XM_011548051.1:c.*838C>T, XM_011548050.1:c.*838C>T, rs17207141, NC_000006.11:g.31542308T>C, XR_926695.1:n.-1833G>A, rs117348084, rs57009373, NG_012010.1:g.7433T=, NG_007462.1:g.3959T=, 36205303 +PA166156991 rs1799971 PA31945 OPRM1 NC_000006.12:154039662 323 54 0 0 0 52818856, NP_001008504.2:p.Asn40Asp, 17181017, NP_001272452.1:p.Asn40Asp, XP_005267059.1:p.Asn102Asp, NM_000914.4:c.118A>G, NM_001008505.2:c.118A>G, NM_001145282.2:c.118A>G, NM_001145285.2:c.118A>G, XR_245534.1:n.304A>G, NR_104351.1:n.252A>G, NG_021208.1:g.34162A>G, NM_001145280.3:c.-11+28644A>G, NR_104349.1:n.252A>G, NP_001138755.1:p.Asn40Asp, NP_001138756.1:p.Asn40Asp, NP_001138757.1:p.Asn40Asp, rs1799971, NM_001145281.2:c.47+29103A>G, NM_001145283.2:c.118A>G, 61596185, NM_001145284.3:c.118A>G, NR_104348.1:n.252A>G, NC_000006.11:g.154360797=, NG_021208.2:g.34162A>G, NP_001138754.1:p.Asn40Asp, NR_104350.1:n.252A>G, NG_021208.2:g.34162=, NP_000905.3:p.Asn40Asp, NP_000905.3:p.Asn40=, NP_001272453.1:p.Asn133Asp, XM_005267002.1:c.304A>G, NM_001145279.3:c.397A>G, XP_006715560.1:p.Asn102Asp, NP_001008503.2:p.Asn40Asp, XM_006715497.2:c.304A>G, NP_001008505.2:p.Asn40Asp, XM_011535849.1:c.397A>G, NP_001272451.1:p.Asn40Asp, NP_001138758.1:p.Asn40Asp, rs52818856, rs17181017, NM_001285523.1:c.118A>G, 1799971, NC_000006.12:g.154039662A>G, NM_001145286.2:c.118A>G, rs61596185, XR_245535.1:n.304A>G, NM_001008504.3:c.118A>G, NM_001285524.1:c.397A>G, XP_011534151.1:p.Asn133Asp, NM_001285522.1:c.118A>G, XR_245537.1:n.304A>G, NM_001008503.2:c.118A>G, NP_001138751.1:p.Asn133Asp, NC_000006.11:g.154360797A>G, NC_000006.12:g.154039662=, XR_245536.1:n.304A>G +PA166177739 rs1799972 PA31945 OPRM1 NC_000006.12:154039561 5 2 0 0 0 17174642, NC_000006.12:g.154039561C>T, NC_000006.11:g.154360696C>G, NP_000905.3:p.Ala6Val, rs1799972, 1799972, NG_021208.2:g.34061C>T, NP_000905.3:p.Ala6Asp, NC_000006.11:g.154360696C>A, 60741460, NC_000006.12:g.154039561C>A, NC_000006.11:g.154360696=, NP_000905.3:p.Ala6Gly, NG_021208.2:g.34061=, NC_000006.12:g.154039561C>G, NC_000006.12:g.154039561=, NG_021208.2:g.34061C>A, NG_021208.2:g.34061C>G, NP_000905.3:p.Ala6=, NC_000006.11:g.154360696C>T +PA166154337 rs1799978 PA27478 DRD2 NC_000011.10:113475629 10 4 0 0 0 NC_000011.10:g.113475629T>C, NC_000011.9:g.113346351T>C, NG_008841.1:g.4651A>G, NC_000011.10:g.113475629=, XM_005271425.1:c.-32+29A>G, NC_000011.9:g.113346351=, rs4986916, 4986916, NM_000795.3:c.-585A>G, 61293607, NG_008841.1:g.4651=, 386545565, XR_948023.1:n.429A>G, rs1799978, NM_016574.3:c.-585A>G, rs61293607, 1799978, rs386545565 +PA166157303 rs1799983 PA254 NOS3 NC_000007.14:150999023 20 8 0 0 0 NP_000594.2:p.Asp298=, rs11266811, 17173672, rs1799983, 1799983, 11266811, rs3730304, 3730304, NG_011992.1:g.12965=, rs13308813, NP_000594.2:p.Asp298Glu, NM_001160110.1:c.894T>G, NP_001153581.1:p.Asp298Glu, NC_000007.14:g.150999023=, 13308813, XM_006716002.2:c.894T>G, NC_000007.13:g.150696111=, NP_001153583.1:p.Asp298Glu, NG_011992.1:g.12965T>G, 57135373, 13305983, rs13238975, NG_011992.1:g.12965T>A, NC_000007.13:g.150696111T>G, NM_000603.4:c.894T>G, 13238975, rs13305983, NC_000007.14:g.150999023T>G, rs57135373, NC_000007.13:g.150696111T>A, NP_001153582.1:p.Asp298Glu, rs17173672, NM_001160109.1:c.894T>G, XP_006716065.1:p.Asp298Glu, NC_000007.14:g.150999023T>A, NM_001160111.1:c.894T>G +PA166157566 rs1799998 PA134 CYP11B2 NC_000008.11:142918184 9 2 0 0 0 NC_000008.10:g.143999600=, NG_055453.1:g.443=, XM_011516879.1:c.-344T=, 17777877, NC_000008.11:g.142918184A>G, rs60977059, 60977059, NC_000008.11:g.142918184=, XR_928729.1:n.-1946A=, XR_928729.1:n.-1946A>G, NG_008374.1:g.4660T>A, NG_046133.1:g.14827=, NC_000008.10:g.143999600A>G, NG_055453.1:g.443A>G, NC_000008.11:g.142918184A>T, NG_008374.1:g.4660T>C, NG_046133.1:g.14827A>G, XM_011516877.1:c.-344T=, XM_011516879.1:c.-344T>C, XM_011516878.1:c.-344T>C, NG_008374.1:g.4660=, XM_011516877.1:c.-344T>C, NM_000498.3:c.-344T=, NC_000008.10:g.143999600A>T, NG_055453.1:g.443A>T, NC_000008.10:g.143999600A=, rs17777877, NC_000008.11:g.142918184A=, XM_011516878.1:c.-344T=, NM_000498.3:c.-344T>C, NG_046133.1:g.14827A>T, rs1799998, NG_008374.1:g.4660T=, 1799998 +PA166155190 rs1800012 PA35041 COL1A1 NC_000017.11:50200388 12 2 0 0 0 XM_005257058.1:c.104-441G>T, XM_005257058.3:c.104-441G>T, NM_000088.3:c.104-441G=, XM_011524341.1:c.104-441G=, rs8179177, 8179177, NC_000017.11:g.50200388C=, XM_005257058.1:c.104-441G=, 1800012, XM_005257059.3:c.104-441G>T, NC_000017.11:g.50200388=, XM_005257059.1:c.104-441G>T, rs1800012, XM_005257058.3:c.104-441G=, rs58312232, XM_011524341.1:c.104-441G>T, NM_000088.3:c.104-441G>T, 58312232, NC_000017.10:g.48277749=, NG_007400.1:g.6252=, NC_000017.11:g.50200388C>A, NC_000017.10:g.48277749C=, XM_005257059.1:c.104-441G=, NC_000017.10:g.48277749C>A, NG_007400.1:g.6252G=, NG_007400.1:g.6252G>T, XM_005257059.3:c.104-441G= +PA166209221 rs1800035 PA35 ADRA2A NC_000010.11:111078794 1 1 0 0 0 NC_000010.11:g.111078794C>T, NC_000010.10:g.112838552=, NG_012020.1:g.6763C>T, NP_000672.3:p.Asn266=, 1800035, NC_000010.11:g.111078794C>G, NC_000010.10:g.112838552C>T, rs1800035, NC_000010.10:g.112838552C>G, NP_000672.3:p.Asn266Lys, NG_012020.1:g.6763C>G, NC_000010.11:g.111078794=, NG_012020.1:g.6763= +PA166170849 rs1800038 PA35 ADRA2A NC_000010.11:111079134 1 0 0 0 0 NG_012020.1:g.7103C>A, rs1800038, 3750623, NP_000672.3:p.Arg380=, NG_012020.1:g.7103=, 1800038, NC_000010.11:g.111079134C>A, NC_000010.11:g.111079134=, NC_000010.10:g.112838892C>A, NC_000010.10:g.112838892= +PA166156772 rs1800042 PA192 HTR1A NC_000005.10:63960902 1 0 0 0 0 NC_000005.10:g.63960902C>A, NC_000005.9:g.63256729C>T, NG_032816.1:g.6391G>A, NC_000005.9:g.63256729=, NC_000005.10:g.63960902C>T, NP_000515.2:p.Gly273=, NG_032816.1:g.6391=, NM_000524.3:c.818G>A, NP_000515.2:p.Gly273Asp, NP_000515.2:p.Gly273Val, rs1800042, NC_000005.10:g.63960902=, NC_000005.9:g.63256729C>A, 1800042, NG_032816.1:g.6391G>T +PA166394661 rs1800076 PA109 CFTR NC_000007.14:117509093 1 1 0 0 2 NP_000483.3:p.Arg75=, NC_000007.13:g.117149147G>T, NG_062452.1:g.731G>A, NC_000007.14:g.117509093G>T, NG_016465.4:g.48310G>A, NC_000007.13:g.117149147=, NP_000483.3:p.Arg75Leu, 1800076, NG_016465.4:g.48310G>T, NG_062452.1:g.731=, NC_000007.14:g.117509093G>A, NG_062452.1:g.731G>T, NC_000007.13:g.117149147G>A, rs1800076, 52803525, NG_016465.4:g.48310=, NC_000007.14:g.117509093=, NP_000483.3:p.Arg75Gln +PA166394781 rs1800079 PA109 CFTR NC_000007.14:117534295 0 0 0 0 1 1800079, NC_000007.14:g.117534295G>A, NP_000483.3:p.Arg170His, NC_000007.14:g.117534295=, NG_016465.4:g.73512G>A, NC_000007.13:g.117174349=, rs1800079, NC_000007.13:g.117174349G>A, NP_000483.3:p.Arg170=, NG_016465.4:g.73512= +PA166394921 rs1800097 PA109 CFTR NC_000007.14:117590357 0 0 0 0 2 NG_016465.4:g.129574G>A, NP_000483.3:p.Val562Leu, NG_016465.4:g.129574G>C, NP_000483.3:p.Val562=, NP_000483.3:p.Val562Ile, NC_000007.14:g.117590357G>A, NC_000007.14:g.117590357G>C, NC_000007.13:g.117230411=, NC_000007.13:g.117230411G>C, rs1800097, NG_016465.4:g.129574=, NC_000007.13:g.117230411G>A, 1800097, NC_000007.14:g.117590357= +PA166394941 rs1800098 PA109 CFTR NC_000007.14:117590400 0 0 0 0 1 NC_000007.13:g.117230454G>T, 17451075, NP_000483.3:p.Gly576Val, NG_016465.4:g.129617G>C, NC_000007.14:g.117590400G>C, NC_000007.13:g.117230454=, 1800098, NG_016465.4:g.129617=, NP_000483.3:p.Gly576=, NC_000007.13:g.117230454G>C, NG_016465.4:g.129617G>T, rs1800098, NC_000007.14:g.117590400=, NC_000007.14:g.117590400G>T, 41290377, NP_000483.3:p.Gly576Ala +PA166178025 rs1800100 PA109 CFTR NC_000007.14:117592169 1 1 0 0 1 NG_016465.4:g.131386C>A, NP_000483.3:p.Arg668Cys, NC_000007.14:g.117592169C>A, NP_000483.3:p.Arg668Ser, 17548341, NP_000483.3:p.Arg668=, NG_016465.4:g.131386C>T, 52834316, 1800100, NC_000007.13:g.117232223C>A, NC_000007.14:g.117592169C>T, rs1800100, NC_000007.13:g.117232223=, NG_016465.4:g.131386=, NC_000007.14:g.117592169=, NC_000007.13:g.117232223C>T +PA166394701 rs1800103 PA109 CFTR NC_000007.14:117592588 0 0 0 0 1 NC_000007.14:g.117592588=, NG_016465.4:g.131805A>G, NP_000483.3:p.Ile807Met, NC_000007.13:g.117232642A>C, NG_016465.4:g.131805=, NG_016465.4:g.131805A>C, NP_000483.3:p.Ile807=, rs1800103, NC_000007.14:g.117592588A>C, NC_000007.14:g.117592588A>G, 1800103, NC_000007.13:g.117232642=, NC_000007.13:g.117232642A>G +PA166394821 rs1800110 PA109 CFTR NC_000007.14:117603774 0 0 0 0 1 NP_000483.3:p.Leu967Ser, NP_000483.3:p.Leu967=, 1800110, NC_000007.13:g.117243828T>C, rs1800110, NC_000007.14:g.117603774=, NC_000007.14:g.117603774T>C, NG_016465.4:g.142991=, NC_000007.13:g.117243828=, NG_016465.4:g.142991T>C +PA166178032 rs1800111 PA109 CFTR NC_000007.14:117610521 1 1 0 0 1 NG_016465.4:g.149738=, NG_016465.4:g.149738G>C, NC_000007.13:g.117250575=, NP_000483.3:p.Leu997=, NG_056128.1:g.3575G>C, NC_000007.13:g.117250575G>C, CFTR L997F, NC_000007.14:g.117610521=, NG_056128.2:g.3575=, 1800111, rs1800111, NG_056128.1:g.3575=, NC_000007.14:g.117610521G>C, NG_056128.2:g.3575G>C, NP_000483.3:p.Leu997Phe +PA166395301 rs1800112 PA109 CFTR NC_000007.14:117610610 0 0 0 0 1 1800112, NC_000007.13:g.117250664=, NC_000007.13:g.117250664T>C, NC_000007.14:g.117610610=, NC_000007.14:g.117610610T>C, rs1800112, NP_000483.3:p.Ile1027=, NG_056128.2:g.3664=, NP_000483.3:p.Ile1027Thr, NG_056128.2:g.3664T>C, NG_016465.4:g.149827=, NG_016465.4:g.149827T>C +PA166395102 rs1800120 PA109 CFTR NC_000007.14:117627538 0 0 0 0 1 NG_016465.4:g.166755=, NC_000007.14:g.117627538G>T, NC_000007.13:g.117267592G>T, 52836318, NP_000483.3:p.Arg1162Gln, NC_000007.14:g.117627538=, NP_000483.3:p.Arg1162Pro, 1800120, NG_016465.4:g.166755G>A, NG_016465.4:g.166755G>C, NC_000007.14:g.117627538G>A, NG_016465.4:g.166755G>T, NC_000007.14:g.117627538G>C, NC_000007.13:g.117267592=, NC_000007.13:g.117267592G>A, rs1800120, NC_000007.13:g.117267592G>C, NP_000483.3:p.Arg1162=, NP_000483.3:p.Arg1162Leu +PA166226881 rs1800139 PA233 LRP1 NC_000012.12:57191361 1 0 0 0 0 2229282, 34322331, NC_000012.11:g.57585144C>G, NP_002323.2:p.Ala2426=, NC_000012.11:g.57585144=, NG_016444.1:g.67863=, NG_016444.1:g.67863C>T, NG_016444.1:g.67863C>G, 1800139, NC_000012.12:g.57191361C>G, 58314402, NC_000012.12:g.57191361C>T, rs1800139, NC_000012.11:g.57585144C>T, 2075699, NC_000012.12:g.57191361= +PA166226901 rs1800154 PA233 LRP1 NC_000012.12:57195876 1 0 0 0 0 1800154, 36100961, rs1800154, NC_000012.12:g.57195876C>T, 2228191, NC_000012.12:g.57195876=, NC_000012.11:g.57589659C>T, NG_016444.1:g.72378C>T, NC_000012.11:g.57589659=, NP_002323.2:p.Cys2858=, NG_016444.1:g.72378= +PA166154338 rs1800169 PA26683,PA162409715 CNTF,ZFP91-CNTF NC_000011.10:58624028 1 0 0 0 0 NG_008776.1:g.6356G>A, NR_024091.1:n.1845-6G>A, 57874465, NG_008776.2:g.6356G>A, rs17489651, NM_000614.3:c.115-6G>A, rs1800169, rs386427934, NC_000011.9:g.58391501G>A, 1800169, rs57874465, 386427934, NC_000011.10:g.58624028G>A, NG_008776.2:g.6356=, NC_000011.9:g.58391501=, 17489651, NC_000011.10:g.58624028=, NG_008776.1:g.6356= +PA166156079 rs1800206 PA280 PPARA NC_000022.11:46218377 2 0 0 0 0 NC_000022.11:g.46218377=, XM_006724269.2:c.484C>G, XR_937870.1:n.798C>G, XM_011530243.1:c.484C>G, rs17248699, NP_001001928.1:p.Leu162Val, XP_005261712.1:p.Leu162Val, XP_011528541.1:p.Leu162Val, XM_011530239.1:c.484C>G, XM_005261656.1:c.484C>G, NG_012204.2:g.72844C>G, XR_937869.1:n.799C>G, NM_001001928.2:c.484C>G, XP_011528547.1:p.Ala26=, NG_012204.1:g.72776C>G, XP_011528543.1:p.Leu162Val, XM_006724270.2:c.484C>G, XP_011528546.1:p.Ala26=, XP_006724333.1:p.Leu162Val, 1800206, NC_000022.11:g.46218377C>G, rs4253796, NC_000022.10:g.46614274C>G, XM_005261657.1:c.484C>G, XP_005261711.1:p.Leu162Val, rs59477602, NG_012204.2:g.72844=, XP_011528542.1:p.Leu162Val, XM_005261656.2:c.484C>G, XP_011528544.1:p.Leu162Val, XM_005261658.1:c.484C>G, XM_005261655.1:c.484C>G, NG_012204.1:g.72776=, XP_005261715.1:p.Leu162Val, XP_006724332.1:p.Leu162Val, XM_011530242.1:c.484C>G, XM_011530245.1:c.78C>G, NP_005027.2:p.Leu162Val, XP_005261710.1:p.Leu162Val, 17248699, XR_244379.1:n.707C>G, 4253796, NC_000022.10:g.46614274=, NM_005036.4:c.484C>G, XM_005261653.1:c.484C>G, XM_011530241.1:c.484C>G, XP_011528545.1:p.Leu162Val, XP_005261714.1:p.Leu162Val, rs1800206, XM_011530244.1:c.78C>G, XM_005261654.1:c.484C>G, NP_005027.2:p.Leu162=, XP_005261713.1:p.Leu162Val, XM_011530240.1:c.484C>G, 59477602, XM_005261655.2:c.484C>G +PA166170473 rs1800234 PA280 PPARA NC_000022.11:46219983 1 0 0 0 0 NP_005027.2:p.Val227Asp, NP_005027.2:p.Val227=, NG_012204.2:g.74450T>C, 60636362, NG_012204.2:g.74450T>A, NC_000022.11:g.46219983T>C, 17847845, NC_000022.11:g.46219983=, NC_000022.11:g.46219983T>A, NC_000022.10:g.46615880=, NC_000022.10:g.46615880T>A, rs1800234, 1800234, NC_000022.10:g.46615880T>C, NP_005027.2:p.Val227Ala, NG_012204.2:g.74450=, NG_012204.1:g.74382=, NG_012204.1:g.74382T>A, NG_012204.1:g.74382T>C +PA166153637 rs1800247 PA25345 BGLAP NC_000001.11:156242034 1 0 0 0 0 NG_053096.1:g.1291T>C, NM_001199664.1:c.358-519T>C, NG_047015.1:g.4875=, NG_047015.1:g.4875T>C, NM_001199661.1:c.504-519T>C, NC_000001.11:g.156242034T>C, NM_199173.5:c.-198T>C, rs1800247, NC_000001.10:g.156211825T>C, 1800247, NC_000001.11:g.156242034=, NC_000001.10:g.156211825=, NM_001199662.1:c.565-519T>C, NG_053096.1:g.1291=, NM_001199663.1:c.369-519T>C +PA166155643 rs1800440 PA27094 CYP1B1 NC_000002.12:38070996 1 0 0 0 0 NG_008386.2:g.10106A>C, 56879535, NM_000104.3:c.1358A>G, 17405302, rs56879535, NP_000095.2:p.Asn453Thr, NP_000095.2:p.Asn453=, NG_008386.2:g.10106A>G, rs4134586, 4134586, rs4986886, 4986886, NC_000002.11:g.38298139=, NC_000002.11:g.38298139T>G, NC_000002.11:g.38298139T>C, 1800440, 386545580, rs1800440, rs386545580, rs17405302, NC_000002.12:g.38070996=, NP_000095.2:p.Asn453Ser, NC_000002.12:g.38070996T>G, NG_008386.2:g.10106=, NC_000002.12:g.38070996T>C +PA166156992 rs1800460 PA356 TPMT NC_000006.12:18138997 149 14 13 0 0 XM_011514840.1:c.391G>A, NC_000006.12:g.18138997=, XP_011513141.1:p.Ala154Thr, rs57650974, 16880273, NM_000367.3:c.460G>A, NC_000006.12:g.18138997C>T, NG_012137.2:g.21147=, NC_000006.11:g.18139228=, NP_000358.1:p.Ala154Thr, 386545583, NC_000006.11:g.18139228C>T, rs16880273, rs11568060, XM_011514839.1:c.460G>A, XP_011513142.1:p.Ala131Thr, rs1800460, rs386545583, 57650974, NP_000358.1:p.Ala154=, NG_012137.2:g.21147G>A, 1800460, 11568060 +PA166156993 rs1800462 PA356 TPMT NC_000006.12:18143724 51 9 9 0 0 NG_012137.2:g.16420=, NC_000006.12:g.18143724C>G, XP_011513141.1:p.Ala80Pro, NG_012137.2:g.16420G>C, XP_011513142.1:p.Ala57Pro, NP_000358.1:p.Ala80=, NC_000006.11:g.18143955=, NC_000006.11:g.18143955C>G, NC_000006.12:g.18143724=, 1800462, rs1800462, XM_011514840.1:c.169G>C, NP_000358.1:p.Ala80Pro, NM_000367.3:c.238G>C, XM_011514839.1:c.238G>C +PA166155372 rs1800469 PA162377347,PA350,PA142670743 B9D2,TGFB1,TMEM91 NC_000019.10:41354391 8 2 0 0 0 NC_000019.10:g.41354391A>G, NC_000019.9:g.41860296=, XM_006723405.1:c.*309T>C, XM_011527349.1:c.*309T>C, rs17551290, XM_011527350.1:c.*309T>C, NM_030578.3:c.*309T>C, NG_013091.1:g.14783=, NC_000019.9:g.41860296A>G, NM_000660.5:c.-1347T>C, XM_005259150.1:c.-30+3189A>G, NG_013364.1:g.4536=, 60009373, 36204364, XM_011527242.1:c.-1347T>C, XM_005259187.1:c.-1347T>C, 1800469, NG_013364.1:g.4536T>C, NC_000019.10:g.41354391=, rs36204364, rs1800469, rs60009373, 386545584, rs386545584, NG_013091.1:g.14783T>C, 17551290 +PA166155373 rs1800470 PA350,PA142670743 TGFB1,TMEM91 NC_000019.10:41353016 2 1 0 0 0 XM_011527242.1:c.29C>T, NG_013091.1:g.16158C>G, 17849435, 17851976, NG_013364.1:g.5911=, NP_000651.3:p.Pro10=, NC_000019.9:g.41858921G>A, NP_000651.3:p.Pro10Arg, NC_000019.9:g.41858921G>C, XP_005259244.1:p.Pro10Leu, rs60195696, NC_000019.10:g.41353016=, NC_000019.10:g.41353016G>A, rs1800470, 1800470, NM_000660.5:c.29C>T, NC_000019.10:g.41353016G>C, NC_000019.9:g.41858921=, NG_013364.1:g.5911C>G, 60195696, XM_005259187.1:c.29C>T, rs3745293, 1982073, rs17849435, XP_011525544.1:p.Pro10Leu, 3745293, rs1982073, 17849267, NP_000651.3:p.Pro10Leu, XM_005259150.1:c.-30+1814G>A, NG_013091.1:g.16158=, NG_013364.1:g.5911C>T, NG_013091.1:g.16158C>T, rs17849267, rs17851976 +PA166155374 rs1800471 PA350,PA142670743 TGFB1,TMEM91 NC_000019.10:41352971 4 1 0 0 0 XM_005259187.1:c.74G>C, NP_000651.3:p.Arg25Gln, NG_013364.1:g.5956G>C, NP_000651.3:p.Arg25Pro, NG_013364.1:g.5956G>A, NG_013364.1:g.5956=, NG_013091.1:g.16203G>A, rs1800471, NG_013091.1:g.16203G>C, 1800471, NC_000019.9:g.41858876=, NC_000019.10:g.41352971=, NC_000019.9:g.41858876C>G, XM_011527242.1:c.74G>C, NC_000019.10:g.41352971C>G, XM_005259150.1:c.-30+1769C>G, XP_011525544.1:p.Arg25Pro, NC_000019.10:g.41352971C>T, NC_000019.9:g.41858876C>T, NG_013091.1:g.16203=, NP_000651.3:p.Arg25=, XP_005259244.1:p.Arg25Pro, 4987231, rs4987231, NM_000660.5:c.74G>C +PA166155280 rs1800477 PA25302 BCL2 NC_000018.10:63318540 1 1 0 0 0 NM_000633.2:c.127G>A, NC_000018.9:g.60985773=, NP_000624.2:p.Ala43Thr, NP_000648.2:p.Ala43Thr, XP_005266792.1:p.Ala43Thr, 4987709, rs4987709, NG_009361.1:g.5841=, NP_000624.2:p.Ala43=, XR_245468.1:n.1239G>A, rs1800477, NC_000018.10:g.63318540C>T, XR_935247.1:n.1239G>A, XM_011526135.1:c.127G>A, NC_000018.10:g.63318540=, NM_000657.2:c.127G>A, 1800477, XM_005266735.1:c.127G>A, XR_935248.1:n.1018G>A, NC_000018.9:g.60985773C>T, XP_011524437.1:p.Ala43Thr, XR_935246.1:n.1239G>A, NG_009361.1:g.5841G>A +PA166154339 rs1800497 PA134872551,PA27478 ANKK1,DRD2 NC_000011.10:113400106 82 20 0 0 0 XP_011541038.1:p.Glu724Lys, XM_011542736.1:c.2170G>A, NG_012976.1:g.17316=, NG_012976.1:g.17316G>A, NM_178510.1:c.2137G>A, 1800497, rs4134623, 4134623, rs1800497, NC_000011.9:g.113270828=, 4245144, NC_000011.10:g.113400106G>A, NP_848605.1:p.Glu713Lys, rs4245144, NP_848605.1:p.Glu713=, rs117686243, 59538675, NC_000011.9:g.113270828G>A, 117686243, XM_011542737.1:c.2140G>A, XP_011541040.1:p.Glu650Lys, rs59538675, XP_011541039.1:p.Glu714Lys, XM_011542738.1:c.1948G>A, NC_000011.10:g.113400106= +PA166177035 rs1800498 PA27478 DRD2 NC_000011.10:113420866 3 0 0 0 0 17505442, NG_008841.1:g.59414=, rs1800498, 1800498, NC_000011.10:g.113420866G>A, NG_008841.1:g.59414C>T, NC_000011.9:g.113291588=, NC_000011.10:g.113420866=, NC_000011.9:g.113291588G>A +PA166154340 rs1800532 PA355 TPH1 NC_000011.10:18026269 8 2 0 0 0 NG_011947.1:g.19520C>A, XR_242819.1:n.651+221C>A, NC_000011.10:g.18026269G>T, NG_011947.1:g.19520=, NC_000011.9:g.18047816=, rs1800532, NC_000011.10:g.18026269=, NC_000011.9:g.18047816G>T, 1800532, 59956346, NG_011947.2:g.19520=, NM_004179.2:c.803+221C>A, rs59956346, NG_011947.2:g.19520C>A +PA166153974 rs1800544 PA35 ADRA2A NC_000010.11:111076745 23 4 0 0 0 rs1800544, NC_000010.11:g.111076745=, NG_012020.1:g.4714=, 1800544, NC_000010.10:g.112836503=, NM_000681.3:c.-1252G>C, NC_000010.11:g.111076745G>A, NC_000010.11:g.111076745G>C, NG_012020.1:g.4714G>C, NC_000010.10:g.112836503G>C, NG_012020.1:g.4714G>A, NC_000010.10:g.112836503G>A +PA166153975 rs1800545 PA35 ADRA2A NC_000010.11:111077780 5 1 0 0 0 rs1800545, NG_012020.1:g.5749G>A, NC_000010.11:g.111077780=, 1800545, NC_000010.11:g.111077780G>A, NC_000010.10:g.112837538=, NG_012020.1:g.5749=, NM_000681.3:c.-217G>A, NC_000010.10:g.112837538G>A +PA166160221 rs1800547 PA238 MAPT NC_000017.11:45974480 2 0 0 0 0 NG_007398.1:g.85059=, NG_007398.1:g.85059A>G, 17572325, NC_000017.10:g.44051846A>G, NG_007398.2:g.85018=, 117965319, NG_007398.2:g.85018A>G, NC_000017.11:g.45974480=, 1800547, rs1800547, NC_000017.10:g.44051846=, NC_000017.11:g.45974480A>G +PA166153638 rs1800559 PA85 CACNA1S NC_000001.11:201060815 6 7 5 1 0 NG_009816.1:g.56752G>A, 28931587, XM_005245478.2:c.3257G>A, NP_000060.2:p.Arg1086His, NG_009816.2:g.56752G>T, NC_000001.10:g.201029943C>T, 1800559, XM_005245478.1:c.3257G>T, NG_009816.1:g.56752=, rs1800559, 80338783, NG_009816.2:g.56752G>A, NG_009816.1:g.56752G>T, NC_000001.10:g.201029943=, rs80338783, NC_000001.11:g.201060815C>T, XP_005245535.1:p.Arg1086His, NG_009816.2:g.56752=, NC_000001.11:g.201060815=, XP_005245535.1:p.Arg1086Leu, NM_000069.2:c.3257G>A, NC_000001.11:g.201060815C>A, NP_000060.2:p.Arg1086=, rs28931587, XM_005245478.1:c.3257G>A, XM_005245478.2:c.3257G>T, NM_000069.2:c.3257G>T, NC_000001.10:g.201029943C>A, NP_000060.2:p.Arg1086Leu +PA166156994 rs1800562 PA29263 HFE NC_000006.12:26092913 2 0 0 0 0 NM_000410.3:c.845G>A, NM_139011.2:c.77-206G>A, NP_620576.1:p.Cys194Tyr, NP_620578.1:p.Cys259Tyr, XP_011512845.1:p.Cys282Tyr, NP_620572.1:p.Cys176Tyr, rs58044250, XM_011514544.1:c.836G>A, XP_011512846.1:p.Cys279Tyr, NM_001300749.1:c.845G>A, NM_139007.2:c.581G>A, XM_011514543.1:c.845G>A, 17530654, NP_000401.1:p.Cys282Tyr, NM_139004.2:c.569G>A, XM_005249040.1:c.836G>A, NP_620579.1:p.Cys102Tyr, rs4134660, XR_241894.1:n.892G>A, 58044250, NM_139010.2:c.305G>A, NP_620577.1:p.Cys180Tyr, 4134660, XP_005249097.1:p.Cys279Tyr, NM_139006.2:c.803G>A, NC_000006.12:g.26092913=, NG_008720.2:g.10633G>A, NM_139009.2:c.776G>A, NP_620575.1:p.Cys268=, XR_241893.1:n.967G>A, NP_620575.1:p.Cys268Tyr, NM_139003.2:c.527G>A, NC_000006.11:g.26093141G>A, NM_139008.2:c.539G>A, NC_000006.12:g.26092913G>A, 1800562, NC_000006.11:g.26093141=, rs17530654, 111535158, rs1800562, NG_008720.2:g.10633=, NP_620573.1:p.Cys190Tyr, NP_001287678.1:p.Cys282Tyr, XR_241893.2:n.967G>A, rs111535158 +PA166155017 rs1800566 PA31744 NQO1 NC_000016.10:69711242 32 7 0 0 0 NG_011504.1:g.20389=, NG_011504.1:g.20389C>T, NC_000016.9:g.69745145=, NM_000903.2:c.559C>T, NP_000894.1:p.Pro187Ser, rs4134727, NG_011504.2:g.20389=, rs4149351, 4149351, 4134727, XM_005255830.1:c.343C>T, 57135274, NC_000016.10:g.69711242G>A, NP_001020604.1:p.Pro153Ser, NC_000016.9:g.69745145G>A, NM_001025433.1:c.457C>T, NM_001025434.1:c.445C>T, NM_001286137.1:c.343C>T, rs1800566, rs57135274, NG_011504.2:g.20389C>T, NP_001273066.1:p.Pro115Ser, 1800566, NC_000016.10:g.69711242=, NP_000894.1:p.Pro187=, NP_001020605.1:p.Pro149Ser, XP_005255887.1:p.Pro115Ser +PA166156995 rs1800584 PA356 TPMT NC_000006.12:18130781 3 2 2 0 0 NG_012137.2:g.29363=, 386545588, 1800584, NC_000006.12:g.18130781C>T, rs1800584, XM_011514839.1:c.581-1G>A, NC_000006.12:g.18130781=, XM_011514840.1:c.557-1G>A, NC_000006.11:g.18131012C>T, NM_000367.3:c.626-1G>A, NC_000006.11:g.18131012=, NG_012137.2:g.29363G>A, rs386545588 +PA166161586 rs1800587 PA29807 IL1A NC_000002.12:112785383 4 0 0 0 0 NG_008850.1:g.5012C>T, NC_000002.12:g.112785383=, NC_000002.11:g.113542960G>A, NC_000002.11:g.113542960=, 17860496, 36214467, NG_008850.1:g.5012=, NC_000002.11:g.113542960G>C, rs1800587, 3783523, NG_008850.1:g.5012C>G, 1800587, NC_000002.12:g.112785383G>A, NC_000002.12:g.112785383G>C +PA166154870 rs1800588 PA230 LIPC NC_000015.10:58431476 4 2 0 0 0 NM_000236.2:c.-557C>T, NG_011465.1:g.4501C>T, NC_000015.9:g.58723675=, NG_011465.2:g.4501C>T, NC_000015.9:g.58723675C>T, NG_011465.2:g.4501=, XR_429537.2:n.-124G>A, rs52833592, NC_000015.10:g.58431476C>T, NG_011465.1:g.4501=, XM_005254372.1:c.-40-517C>T, XR_932289.1:n.-124G>A, rs1800588, XM_011521551.1:c.-40-517C>T, NG_011465.2:g.4501C>G, 1800588, NG_011465.1:g.4501C>G, XM_005254373.1:c.-40-517C>T, 52833592, NC_000015.10:g.58431476C>G, NC_000015.10:g.58431476=, NC_000015.9:g.58723675C>G +PA166156523 rs1800591 PA164742099 MTTP NC_000004.12:99574331 3 2 0 0 0 NC_000004.12:g.99574331G>T, XM_005263025.1:c.143-7574G>T, NC_000004.11:g.100495488=, NG_011469.1:g.15249=, NM_001300785.1:c.143-7574G>T, NG_011469.1:g.15249G>T, 17598205, NC_000004.12:g.99574331=, rs1800591, rs17598205, NM_000253.3:c.-101-478G>T, 1800591, NC_000004.11:g.100495488G>T +PA166156996 rs1800610 PA435 TNF NC_000006.12:31576050 1 0 0 0 0 NT_167247.2:g.2917948G>A, NT_167248.1:g.2837465G>A, NC_000006.12:g.31576050=, NT_113891.2:g.3053443G>A, NT_167245.1:g.2829368G>A, rs80267959, NT_167246.1:g.2886711G>A, 3730325, NC_000006.11:g.31543827=, rs3730325, NT_167246.2:g.2881091G>A, 4645840, NT_167244.2:g.2908629G>A, 80267959, rs1800610, 1800610, NT_167244.1:g.2858545G>A, 117343675, NT_167247.1:g.2923533G>A, NT_167248.2:g.2831869G>A, NG_007462.1:g.5478=, 115776008, NG_012010.1:g.8952G>A, rs117343675, NG_012010.1:g.8952=, NG_007462.1:g.5478G>A, NT_167245.2:g.2823783G>A, NT_167249.1:g.2874628G>A, NT_113891.3:g.3053337G>A, NC_000006.11:g.31543827G>A, NM_000594.3:c.186+123G>A, rs4645840, NC_000006.12:g.31576050G>A, NT_167249.2:g.2875330G>A, rs115776008 +PA166156997 rs1800629 PA37856,PA30474,PA435 LST1,LTA,TNF NC_000006.12:31575254 45 14 0 0 0 NT_167246.1:g.2885915G>A, NT_167246.2:g.2880295G=, NG_012010.1:g.8156G=, NM_000594.3:c.-488A>G, NM_000594.3:c.-488G>A, NT_113891.3:g.3052541A>G, NT_167249.1:g.2873832G>A, NG_007462.1:g.4682=, 117441802, 36205298, NT_167247.2:g.2917152G=, NT_167249.2:g.2874534G=, rs1800629, NT_167245.2:g.2822987G=, NT_167247.1:g.2922737G=, NT_113891.2:g.3052647A>G, rs117441802, 4134777, 148958203, rs59729336, NT_167245.1:g.2828572G=, NC_000006.11:g.31543031G=, rs3091256, NT_167248.1:g.2836669G>A, NT_113891.3:g.3052541A=, 116610137, NT_167246.1:g.2885915G=, NC_000006.12:g.31575254=, NG_007462.1:g.4682G=, NT_113891.2:g.3052647A=, NT_167248.1:g.2836669G=, NT_167248.2:g.2831073G=, NT_167248.2:g.2831073G>A, rs116610137, NT_167245.2:g.2822987G>A, NG_012010.1:g.8156G>A, NT_167245.1:g.2828572G>A, NC_000006.11:g.31543031G>A, NT_167247.1:g.2922737G>A, NT_167246.2:g.2880295G>A, NC_000006.12:g.31575254G>A, NT_167247.2:g.2917152G>A, NG_012010.1:g.8156=, 59729336, 1800629, NC_000006.12:g.31575254G=, NT_167249.1:g.2873832G=, rs36205298, NG_007462.1:g.4682G>A, rs4134777, NC_000006.11:g.31543031=, NT_167249.2:g.2874534G>A, 3091256, rs148958203 +PA166156998 rs1800630 PA30474,PA435 LTA,TNF NC_000006.12:31574699 3 0 0 0 0 36205300, NG_007462.1:g.4127C=, XM_011547885.1:c.*1006A>C, NT_167248.2:g.2830518C>A, XM_011547887.1:c.*1006C>A, XR_952245.1:n.-1977G>T, XM_011548050.1:c.*1006A>C, rs1800630, 1800630, NT_167249.2:g.2873979C=, NT_113891.3:g.3051986C>A, NM_000595.3:c.*1006A>C, XM_011548437.1:c.*1006C>A, XM_011548438.1:c.*1006C>A, XM_011548436.1:c.*1006A>C, XM_011548439.1:c.*1006A>C, NT_113891.3:g.3051986C=, rs114012139, XM_011514617.1:c.*1006C>A, NC_000006.12:g.31574699C>A, XM_011514618.1:c.*1006A>C, rs36205300, NC_000006.12:g.31574699=, NT_167249.1:g.2873277C>A, rs4151110, XM_011514616.1:c.*1006C>A, NT_167247.2:g.2916597A=, XM_011514615.1:c.*1006A>C, XM_011514614.1:c.*1006A>C, XM_011547653.1:c.*1006C>A, XM_011547654.1:c.*1006C>A, NT_167249.2:g.2873979C>A, NG_012010.1:g.7601C=, XM_011548440.1:c.*1006A>C, NT_167248.1:g.2836114C>A, XM_011547886.1:c.*1006C>A, NC_000006.11:g.31542476C=, NT_167247.1:g.2922182A>C, rs3807037, NT_167247.1:g.2922182A=, XM_011548051.1:c.*1006A>C, NT_167246.2:g.2879740C>A, rs4645836, 117712855, NC_000006.11:g.31542476C>A, NT_167245.2:g.2822432C>A, NT_167249.1:g.2873277C=, NT_113891.2:g.3052092C=, XM_011548242.1:c.*1006A>C, XM_011548243.1:c.*1006C>A, NG_007462.1:g.4127=, XM_011547250.1:c.*1006C>A, NM_001159740.2:c.*1006A>C, XM_011547884.1:c.*1006C>A, NT_167245.1:g.2828017C>A, NC_000006.11:g.31542476=, NT_167246.2:g.2879740C=, XM_011547883.1:c.*1006A>C, NM_000594.3:c.-1043C>A, NT_167245.1:g.2828017C=, rs181370386, XM_011547887.1:c.*1006A>C, XM_011548050.1:c.*1006C>A, 181370386, NM_000595.3:c.*1006C>A, XM_011548437.1:c.*1006A>C, XM_011548438.1:c.*1006A>C, XM_011548436.1:c.*1006C>A, XM_011548439.1:c.*1006C>A, NT_167248.1:g.2836114C=, NT_167247.2:g.2916597A>C, NG_012010.1:g.7601C>A, XM_011514617.1:c.*1006A>C, XM_011514618.1:c.*1006C>A, rs112222934, XM_011514616.1:c.*1006A>C, XM_011514615.1:c.*1006C>A, XM_011514614.1:c.*1006C>A, XM_011547653.1:c.*1006A>C, XM_011547654.1:c.*1006A>C, NT_167245.2:g.2822432C=, XM_011548440.1:c.*1006C>A, 3807037, XM_011547886.1:c.*1006A>C, XR_952245.1:n.-1977T>G, XM_011548051.1:c.*1006C>A, NT_167246.1:g.2885360C=, 114012139, NG_012010.1:g.7601=, rs117712855, NC_000006.12:g.31574699C=, NT_113891.2:g.3052092C>A, NT_167246.1:g.2885360C>A, NG_007462.1:g.4127C>A, 4645836, XM_011548242.1:c.*1006C>A, XM_011548243.1:c.*1006A>C, 112222934, NT_167248.2:g.2830518C=, XM_011547250.1:c.*1006A>C, NM_001159740.2:c.*1006C>A, 4151110, XM_011547884.1:c.*1006A>C, XM_011547885.1:c.*1006C>A, XM_011547883.1:c.*1006C>A, NM_000594.3:c.-1043A>C +PA166154518 rs1800693 PA36609 TNFRSF1A NC_000012.12:6330843 1 0 0 0 0 XM_005253758.1:c.301+10A>G, rs59417461, NM_001065.3:c.625+10A>G, 17847991, NC_000012.11:g.6440009=, NG_007506.1:g.16253=, NG_007506.1:g.16253A>G, NC_000012.12:g.6330843=, 59417461, XM_005253759.1:c.552-132A>G, 1800693, NC_000012.11:g.6440009T>C, rs1800693, rs17847991, NC_000012.12:g.6330843T>C +PA166156329 rs1800734 PA134917440,PA240 EPM2AIP1,MLH1 NC_000003.12:36993455 3 0 0 0 0 NM_001258273.1:c.-725G>A, XM_005265161.1:c.-93G>A, NM_000249.3:c.-93G>A, XM_005265164.1:c.-811G>A, NC_000003.11:g.37034946=, XM_005265617.1:c.-378C>T, 1800734, rs59297696, rs1800734, NC_000003.11:g.37034946G>A, NC_000003.11:g.37034946G>C, NM_001258274.1:c.-1188G>A, NC_000003.12:g.36993455=, NG_007109.2:g.5106G>C, NG_008418.1:g.4850C>G, NM_001258271.1:c.-93G>A, NG_007109.2:g.5106=, NG_007109.2:g.5106G>A, 59297696, rs13084483, NM_001167618.1:c.-1038G>A, XM_005265166.1:c.-1249G>A, NG_008418.1:g.4850=, NM_014805.3:c.-378C>T, XM_005265162.1:c.-377G>A, 13084483, NG_008418.1:g.4850C>T, XM_011533727.1:c.-1146G>A, rs17436119, XM_005265165.1:c.-719G>A, NM_001167617.1:c.-609G>A, XM_005265163.1:c.-1043G>A, NM_001167619.1:c.-951G>A, NC_000003.12:g.36993455G>A, NC_000003.12:g.36993455G>C, 17436119 +PA166156999 rs1800750 PA435 TNF NC_000006.12:31575186 2 0 0 0 0 NT_167248.2:g.2831005A=, NT_167245.2:g.2822919G=, NT_167247.1:g.2922669G>A, NT_167249.1:g.2873764G=, 4987026, 1800750, NT_167246.1:g.2885847G=, NT_167246.2:g.2880227G=, NT_167245.1:g.2828504G=, rs1800750, NC_000006.12:g.31575186=, rs4987026, NG_007462.1:g.4614G>A, 36205297, NT_113891.2:g.3052579G=, NG_007462.1:g.4614G=, NT_113891.3:g.3052473G=, 147371058, NT_113891.2:g.3052579G>A, NG_007462.1:g.4614=, NT_167247.1:g.2922669G=, 4134776, NT_167249.2:g.2874466G=, NM_000594.3:c.-556A>G, NM_000594.3:c.-556G>A, NC_000006.11:g.31542963=, NT_167246.1:g.2885847G>A, NT_167245.2:g.2822919G>A, NT_167246.2:g.2880227G>A, rs3093659, 3093659, NT_113891.3:g.3052473G>A, NT_167248.2:g.2831005A>G, NG_012010.1:g.8088=, NT_167249.1:g.2873764G>A, NT_167248.1:g.2836601A=, NT_167248.1:g.2836601A>G, NG_012010.1:g.8088G=, NC_000006.11:g.31542963G>A, NT_167247.2:g.2917084G=, NT_167249.2:g.2874466G>A, NC_000006.11:g.31542963G=, NC_000006.12:g.31575186G=, NT_167245.1:g.2828504G>A, NC_000006.12:g.31575186G>A, rs36205297, NT_167247.2:g.2917084G>A, NG_012010.1:g.8088G>A, rs147371058, rs4134776 +PA166155018 rs1800775 PA108 CETP NC_000016.10:56961324 1 0 0 0 0 rs58582102, 17231513, XM_005255776.1:c.-656C>A, 36229486, NC_000016.9:g.56995236C>G, NM_001286085.1:c.-656C>A, NG_008952.1:g.4402C>A, 17515652, NC_000016.10:g.56961324=, NG_008952.1:g.4402=, rs1800775, NM_000078.2:c.-656C>A, rs36229486, NG_008952.1:g.4402C>G, NC_000016.10:g.56961324C>G, rs17231513, NC_000016.10:g.56961324C>A, 1800775, XM_006721124.2:c.-656C>A, NC_000016.9:g.56995236=, NC_000016.9:g.56995236C>A, rs17515652, 58582102 +PA166157304 rs1800795 PA198 IL6 NC_000007.14:22727026 14 4 0 0 0 rs36215460, NG_011640.1:g.4880C>G, NC_000007.14:g.22727026C>G, XM_005249745.3:c.-237C>G, NC_000007.13:g.22766645C>G, 56588968, NM_000600.4:c.-237C>G, rs56588968, 17777058, XM_005249745.1:c.-237C>G, XM_005249746.1:c.-274C>G, XM_011515390.1:c.-84-153C>G, rs58302852, rs1800795, 1800795, NR_131935.1:n.54-321G>C, NC_000007.13:g.22766645C>T, NM_001318095.1:c.-274C>G, NG_011640.1:g.4880=, 58302852, IL-6 C-174G (rs 1800795) [PMID: 28303994], NC_000007.14:g.22727026=, NC_000007.14:g.22727026C>T, 36215460, NC_000007.13:g.22766645=, XM_011515391.1:c.-274C>G, NG_011640.1:g.4880C>T, rs17777058 +PA166157305 rs1800796 PA198 IL6 NC_000007.14:22726627 2 0 0 0 0 NM_001318095.1:c.-673G>C, 36215815, NC_000007.14:g.22726627=, NR_131935.1:n.132C>G, NC_000007.14:g.22726627G>C, rs13306437, NC_000007.14:g.22726627G>A, rs1800796, NC_000007.13:g.22766246=, NM_000600.4:c.-636G>C, XM_011515390.1:c.-85+369G>C, XM_005249745.3:c.-636G>C, XM_011515391.1:c.-673G>C, NC_000007.13:g.22766246G>A, NG_011640.1:g.4481G>A, NC_000007.13:g.22766246G>C, NG_011640.1:g.4481G>C, rs36215815, 1800796, NG_011640.1:g.4481=, XM_005249746.1:c.-673G>C, 13306437, XM_005249745.1:c.-636G>C +PA166157306 rs1800797 PA198 IL6 NC_000007.14:22726602 3 0 0 0 0 XM_005249746.1:c.-698A>G, NG_011640.1:g.4456A>T, NC_000007.14:g.22726602A>C, NC_000007.13:g.22766221A>T, NC_000007.14:g.22726602A>G, NM_001318095.1:c.-698A>G, NC_000007.13:g.22766221=, NC_000007.14:g.22726602A>T, NC_000007.13:g.22766221A>C, rs1800797, 60859197, NR_131935.1:n.157T>C, NG_011640.1:g.4456=, NC_000007.13:g.22766221A>G, rs10366646, 1800797, XM_011515391.1:c.-698A>G, XM_005249745.3:c.-661A>G, rs36215816, 10366646, rs60859197, 36215816, NC_000007.14:g.22726602=, XM_005249745.1:c.-661A>G, NG_011640.1:g.4456A>C, NG_011640.1:g.4456A>G, NM_000600.4:c.-661A>G, XM_011515390.1:c.-85+344A>G +PA166185813 rs1800810 PA33147 PDGFRA NC_000004.12:54227864 2 0 0 0 0 NC_000004.11:g.55094031=, NG_009250.1:g.3768C>A, NC_000004.12:g.54227864C>G, NG_009250.1:g.3768=, rs1800810, NC_000004.12:g.54227864C>A, NC_000004.11:g.55094031C>A, 1800810, NC_000004.12:g.54227864=, NC_000004.11:g.55094031C>G, NG_009250.1:g.3768C>G +PA166185815 rs1800812 PA33147 PDGFRA NC_000004.12:54228462 2 0 0 0 0 NC_000004.11:g.55094629=, NG_009250.1:g.4366G>T, NG_009250.1:g.4366=, NG_009250.1:g.4366G>C, NC_000004.12:g.54228462G>T, 1800812, NC_000004.12:g.54228462=, NC_000004.12:g.54228462G>C, rs1800812, NC_000004.11:g.55094629G>T, NC_000004.11:g.55094629G>C +PA166185817 rs1800813 PA33147 PDGFRA NC_000004.12:54228300 2 0 0 0 0 NG_009250.1:g.4204G>A, NC_000004.12:g.54228300G>A, 1800813, NC_000004.11:g.55094467=, NC_000004.11:g.55094467G>A, NG_009250.1:g.4204=, NC_000004.12:g.54228300=, rs1800813 +PA166162578 rs1800822 PA166 FMO3 NC_000001.11:171107794 1 0 0 0 0 NC_000001.10:g.171076935C>T, NC_000001.11:g.171107794=, NC_000001.11:g.171107794C>G, 57413585, 1800822, 2266777, NG_012690.1:g.21918C>G, NP_008825.4:p.Ser147=, rs1800822, NG_012690.1:g.21918=, NC_000001.11:g.171107794C>T, 52798673, NC_000001.10:g.171076935C>G, NC_000001.10:g.171076935=, NG_012690.1:g.21918C>T +PA166153639 rs1800871 PA29778,PA29806 IL10,IL19 NC_000001.11:206773289 12 2 0 0 0 rs52832962, NM_000572.2:c.-854T>C, XM_011509506.1:c.-854T>C, NC_000001.11:g.206773289A>G, 3021097, NG_012088.1:g.4206=, rs3021097, 1800871, 52832962, NG_012088.1:g.4206T>C, NC_000001.10:g.206946634A>G, NC_000001.10:g.206946634=, rs1800871, 36213473, rs36213473, NC_000001.11:g.206773289= +PA166153640 rs1800872 PA29778,PA29806 IL10,IL19 NC_000001.11:206773062 8 2 0 0 0 NC_000001.11:g.206773062T>G, rs36213471, rs61491075, NG_012088.1:g.4433=, NM_000572.2:c.-627A>C, NC_000001.10:g.206946407T>G, NG_012088.1:g.4433A>C, 36213471, NC_000001.11:g.206773062=, rs1800872, 1800872, 61491075, XM_011509506.1:c.-627A>C, NC_000001.10:g.206946407= +PA166156773 rs1800888 PA39 ADRB2 NC_000005.10:148827322 8 1 0 0 0 3729606, rs3729606, NC_000005.10:g.148827322C>T, rs17707796, NP_000015.2:p.Thr164Ile, 1800888, NM_000024.5:c.491C>T, rs1800888, XM_005268383.1:c.491C>T, NC_000005.9:g.148206885C>T, NP_000015.1:p.Thr164Ile, XP_005268439.1:p.Thr164Ile, NG_016421.1:g.5730C>T, NG_016421.1:g.5730=, 17334207, 17707796, NG_016421.2:g.5730C>T, NP_000015.2:p.Thr164=, rs17334207, NC_000005.9:g.148206885=, NG_016421.2:g.5730=, XM_005268382.1:c.491C>T, XP_005268440.1:p.Thr164Ile, NC_000005.10:g.148827322= +PA166153641 rs1800894 PA29778,PA29806 IL10,IL19 NC_000001.11:206773321 1 0 0 0 0 36213834, XM_011509506.1:c.-886G>A, 56600828, 60165533, NG_012088.1:g.4174=, rs56600828, rs60165533, NG_012088.1:g.4174G>A, rs36213834, NC_000001.10:g.206946666=, NC_000001.11:g.206773321C>T, NC_000001.10:g.206946666C>T, rs1800894, 1800894, NM_000572.2:c.-886G>A, NC_000001.11:g.206773321= +PA166153642 rs1800896 PA29778,PA29806 IL10,IL19 NC_000001.11:206773552 15 5 0 0 0 36213835, NC_000001.10:g.206946897T>C, 386545607, NG_012088.1:g.3943A>G, NC_000001.11:g.206773552=, rs386545607, NC_000001.11:g.206773552T>C, 59915840, rs1800896, XM_011509506.1:c.-1001-116A>G, rs36213835, 1800896, NC_000001.10:g.206946897=, NM_000572.2:c.-1117A>G, NG_012088.1:g.3943=, rs59915840 +PA166157567 rs1800909 PA432 GGH NC_000008.11:63038753 3 1 0 0 0 1800909, NC_000008.10:g.63951312=, NP_003869.1:p.Cys6=, rs1800909, NC_000008.11:g.63038753A>G, NG_028126.1:g.5299T>C, NP_003869.1:p.Cys6Arg, NC_000008.10:g.63951312A>G, XM_011517623.1:c.16T>C, NC_000008.11:g.63038753=, NM_003878.2:c.16T>C, XP_011515925.1:p.Cys6Arg, NG_028126.1:g.5299= +PA166156774 rs1800925 PA199 IL13 NC_000005.10:132657117 2 1 0 0 0 rs60620226, NG_012090.1:g.3945C>T, rs1800925, NC_000005.9:g.131992809C>G, NR_132126.1:n.-1225G>A, 1800925, XR_246587.1:n.-1225G>A, NC_000005.10:g.132657117C>T, NM_002188.2:c.-1070C>T, 3777375, rs3777375, NG_012090.1:g.3945C>G, NR_132125.1:n.-963G>A, NC_000005.9:g.131992809=, NG_012090.1:g.3945=, rs4134673, 60620226, NC_000005.9:g.131992809C>T, 4134673, NC_000005.10:g.132657117=, NC_000005.10:g.132657117C>G +PA166324281 rs1800955 PA27480 DRD4 NC_000011.10:636784 1 0 0 0 0 3824859, NC_000011.10:g.636784T>C, NG_021241.1:g.4480=, NC_000011.10:g.636784=, NC_000011.10:g.636784T>G, 1800955, NC_000011.9:g.636784=, NC_000011.9:g.636784T>C, NG_021241.1:g.4480T>G, rs1800955, NC_000011.9:g.636784T>G, NG_021241.1:g.4480T>C +PA166179046 rs1800961 PA29349 HNF4A NC_000020.11:44413724 1 0 0 0 0 NC_000020.11:g.44413724C>T, NG_009818.1:g.62924C>T, 17755913, NG_009818.1:g.62924=, NC_000020.10:g.43042364=, 52827379, 60038288, rs1800961, 56564652, NP_000448.3:p.Thr139=, 1800961, NC_000020.11:g.44413724=, NP_000448.3:p.Thr139Ile, NC_000020.10:g.43042364C>T +PA166157737 rs1800975 PA368 XPA NC_000009.12:97697296 1 1 0 0 0 16923638, NG_011642.1:g.5114=, NC_000009.12:g.97697296T>G, NG_011642.1:g.5114A>G, rs13301768, NC_000009.12:g.97697296T>A, NC_000009.12:g.97697296T>C, NG_011642.1:g.5114A>C, 1800975, NM_000380.3:c.-4A>G, NR_027302.1:n.114A>G, rs1800975, XM_006717278.1:c.-4A>G, 13301768, rs58796599, NC_000009.11:g.100459578=, 3176632, NC_000009.12:g.97697296=, rs3176632, NC_000009.11:g.100459578T>A, NG_011642.1:g.5114A>T, NC_000009.11:g.100459578T>G, NC_000009.11:g.100459578T>C, 58796599, XR_929839.1:n.108A>G, rs16923638, XM_011518988.1:c.-4A>G +PA166156330 rs1801019 PA363 UMPS NC_000003.12:124737895 8 1 0 0 0 rs199469590, XM_005247744.1:c.104G>C, XM_005247741.1:c.362G>C, rs58177968, 3772805, 199469590, rs3772805, NR_033437.1:n.843G>C, NG_017037.1:g.12530=, NP_000364.1:p.Gly213Ala, rs3172286, 3172286, NP_000364.1:p.Gly213=, 58177968, NP_000364.1:p.Gly213Asp, NC_000003.11:g.124456742=, NC_000003.11:g.124456742G>A, NC_000003.11:g.124456742G>C, XP_005247799.1:p.Gly35Ala, NR_033434.1:n.590G>C, NC_000003.12:g.124737895=, 52826107, rs17843818, XM_005247742.1:c.104G>C, XP_005247801.1:p.Gly35Ala, rs52826107, NM_000373.3:c.638G>C, 1801019, rs1801019, XM_005247743.1:c.124-20G>C, XP_005247798.1:p.Gly121Ala, 17843818, NG_017037.1:g.12530G>A, NG_017037.1:g.12530G>C, NC_000003.12:g.124737895G>A, NC_000003.12:g.124737895G>C +PA166156775 rs1801020 PA161,PA35887 F12,SLC34A1 NC_000005.10:177409531 2 1 0 0 0 3749733, rs386545613, 17876008, NC_000005.9:g.176836532=, XM_011534461.1:c.-4T>C, 386545613, NC_000005.10:g.177409531=, NC_000005.10:g.177409531A>G, NG_007568.1:g.5046=, rs1801020, NG_007568.1:g.5046T>C, rs17876008, 1801020, rs3749733, NC_000005.9:g.176836532A>G, NM_000505.3:c.-4T>C +PA166154341 rs1801028 PA27478 DRD2 NC_000011.10:113412762 4 0 0 0 0 NC_000011.10:g.113412762=, NP_057658.2:p.Ser282Cys, NC_000011.9:g.113283484G>C, NG_008841.1:g.67518C>G, NM_000795.3:c.932C>G, NC_000011.9:g.113283484=, NP_000786.1:p.Ser311=, NM_016574.3:c.845C>G, 4134622, NG_008841.1:g.67518=, rs1801028, 1801028, NC_000011.10:g.113412762G>C, XM_005271426.1:c.929C>G, XP_005271482.1:p.Ser311Cys, XM_005271425.1:c.932C>G, NP_000786.1:p.Ser311Cys, XP_005271483.1:p.Ser310Cys, rs4134622 +PA166155019 rs1801030 PA166123718,PA343,PA341 NPIPB8,SULT1A1,SULT1A2 NC_000016.10:28606164 3 0 0 0 0 NC_000016.9:g.28617485=, NP_001046.2:p.Val223Met, NP_803878.1:p.Val223Met, rs61167940, NM_001310136.1:c.121-139262G>A, XP_005255579.1:p.Val223Met, NM_177536.3:c.433G>A, NP_803565.1:p.Val223Met, NM_001055.3:c.667G>A, NG_028128.1:g.22382G>T, NC_000016.10:g.28606164=, NC_000016.10:g.28606164C>G, NC_000016.9:g.28617485C>G, NM_177534.2:c.667G>A, NC_000016.9:g.28617485C>A, NG_028128.1:g.22382G>A, NC_000016.10:g.28606164C>T, NG_028128.1:g.22382G>C, NP_803880.1:p.Val145Met, NP_803880.1:p.Val145Leu, NM_177530.2:c.667G>A, NM_177529.2:c.667G>A, rs8054402, 8054402, rs1801030, NP_803566.1:p.Val223Met, 1801030, NC_000016.10:g.28606164C>A, NC_000016.9:g.28617485C>T, XM_005255522.1:c.667G>A, NP_803880.1:p.Val145=, NG_028128.1:g.22382=, 61167940 +PA166156524 rs1801058 PA28941 GRK4 NC_000004.12:3037423 4 1 0 0 0 XM_005247962.1:c.824T>C, NG_029102.1:g.78808T>G, XM_005247963.1:c.971-3149T>C, XM_011513449.1:c.1478T>C, NG_029102.1:g.78808T>C, NP_001004056.1:p.Val454Ala, XP_006713943.1:p.Val275Ala, NP_001004057.1:p.Val486Ala, XP_011511756.1:p.Val479Ala, rs56574318, XM_005247958.1:c.1361T>C, XM_011513456.1:c.1088-3149T>C, rs56725050, XP_011511753.1:p.Val479Ala, NC_000004.12:g.3037423=, XM_005247962.2:c.824T>C, NM_005307.2:c.1361T>C, XP_005248014.1:p.Val440Ala, XR_924941.1:n.2257T>C, NM_001004056.1:c.1361T>C, NP_892027.2:p.Val486Ala, XM_005247957.1:c.1319T>C, 1801058, NC_000004.11:g.3039150T>G, rs52812762, NC_000004.11:g.3039150T>C, XP_005248019.1:p.Val275Ala, XP_011511752.1:p.Val525Ala, NG_029102.1:g.78808=, XM_005247960.1:c.1270-3149T>C, XP_011511754.1:p.Val479Ala, XM_011513454.1:c.1436T>C, XM_011513450.1:c.1574T>C, XP_011511751.1:p.Val493Ala, NM_001004057.1:c.1457T>C, XP_005248015.1:p.Val454Ala, 56725050, NC_000004.12:g.3037423T>C, XM_005247959.1:c.1319T>C, XM_011513455.1:c.1387-3149T>C, 56574318, NP_892027.2:p.Val486Gly, XM_011513451.1:c.1436T>C, NP_005298.2:p.Val454Ala, XM_011513452.1:c.1436T>C, XP_005248018.1:p.Val292Ala, NC_000004.12:g.3037423T>G, NM_182982.2:c.1457T>C, XP_011511749.1:p.Val525Ala, XP_011511750.1:p.Val525Ala, XM_005247961.1:c.875T>C, XM_011513448.1:c.1574T>C, XR_924943.1:n.1811T>C, XM_011513447.1:c.1574T>C, rs1801058, XP_005248016.1:p.Val440Ala, XM_011513453.1:c.1524+1900T>C, 52812762, NC_000004.11:g.3039150=, XM_006713880.2:c.824T>C, NP_892027.2:p.Val486= +PA166155375 rs1801086 PA34896 RYR1 NC_000019.10:38446710 11 1 1 1 0 XP_006723380.1:p.Gly248Arg, NP_000531.2:p.Gly248=, NC_000019.10:g.38446710G>T, XM_006723319.1:c.742G>C, XM_006723319.1:c.742G>A, XM_011527204.1:c.742G>T, XP_006723380.1:p.Gly248Trp, rs1801086, NP_001036188.1:p.Gly248Arg, XP_011525507.1:p.Gly248Arg, 1801086, NM_000540.2:c.742G>T, XM_011527205.1:c.742G>C, NC_000019.9:g.38937350G>T, NG_008866.1:g.18011G>C, XM_006723319.1:c.742G>T, XP_011525506.1:p.Gly248Trp, XM_011527205.1:c.742G>A, NC_000019.10:g.38446710G>C, NG_008866.1:g.18011G>A, NM_001042723.1:c.742G>T, NC_000019.10:g.38446710G>A, XP_006723382.1:p.Gly248Trp, NG_008866.1:g.18011=, NM_000540.2:c.742G>C, NP_001036188.1:p.Gly248Trp, NM_000540.2:c.742G>A, XM_006723317.1:c.742G>A, NG_008866.1:g.18011G>T, NC_000019.9:g.38937350G>C, NM_001042723.1:c.742G>A, XM_011527204.1:c.742G>A, XM_011527205.1:c.742G>T, NC_000019.9:g.38937350=, NC_000019.9:g.38937350G>A, NM_001042723.1:c.742G>C, NP_000531.2:p.Gly248Arg, XM_006723317.1:c.742G>C, XM_011527204.1:c.742G>C, XP_011525506.1:p.Gly248Arg, NP_000531.2:p.Gly248Trp, NC_000019.10:g.38446710=, XP_006723382.1:p.Gly248Arg, XP_011525507.1:p.Gly248Trp, XM_006723317.1:c.742G>T +PA166155644 rs1801123 PA203 IRS1 NC_000002.12:226796327 2 0 0 0 0 NG_015830.1:g.7464=, rs117291937, NC_000002.12:g.226796327=, NM_005544.2:c.2412A>G, XP_005246591.1:p.Ala804=, NG_015830.1:g.7464A>T, NC_000002.12:g.226796327T>A, NC_000002.12:g.226796327T>C, XM_005246534.1:c.2412A>G, rs3731595, 3731595, rs1801123, 1801123, NG_015830.1:g.7464A>G, NP_005535.1:p.Ala804=, 117291937, NC_000002.11:g.227661043T>A, NC_000002.11:g.227661043=, NC_000002.11:g.227661043T>C +PA166153643 rs1801131 PA142672417,PA26551,PA245 C1orf167,CLCN6,MTHFR NC_000001.11:11794419 117 11 0 1 1 XM_005263462.3:c.1286A>C, XP_005263519.1:p.Glu429Ala, XM_011541495.1:c.1406A>C, XP_005263517.1:p.Glu429Ala, XM_005263460.1:c.1286A>C, 17367365, NC_000001.11:g.11794419=, XM_005263458.2:c.1409A>C, NP_005948.3:p.Glu429=, rs17857426, NC_000001.11:g.11794419T>G, XP_011539797.1:p.Glu469Ala, NM_005957.4:c.1286A>C, XM_005263461.1:c.1286A>C, XM_005263462.1:c.1286A>C, XP_005263515.1:p.Glu470Ala, XM_005263463.2:c.1040A>C, XM_005263460.3:c.1286A>C, XM_005263461.3:c.1286A>C, XP_005263520.1:p.Glu347Ala, XP_005263516.1:p.Glu452Ala, 17857426, NG_013351.1:g.16685A>C, XM_011541496.1:c.1409A>C, NG_013351.1:g.16685=, XP_011539798.1:p.Glu470Ala, NP_005948.3:p.Glu429Ala, XP_005263518.1:p.Glu429Ala, NC_000001.10:g.11854476=, rs4134712, XM_005263463.1:c.1040A>C, 4134712, XM_005263458.1:c.1409A>C, rs17367365, rs1801131, NC_000001.10:g.11854476T>G, 1801131, XM_005263459.1:c.1355A>C +PA166157000 rs1801132 PA156 ESR1 NC_000006.12:151944387 2 0 0 0 0 NM_001291241.1:c.972C>G, XM_011535548.1:c.456G>C, NM_001122742.1:c.975C>G, XM_006715375.2:c.456G>C, 57015982, NC_000006.12:g.151944387=, XM_005266857.1:c.972G>C, 17847079, NP_001278170.1:p.Pro324=, 56646123, XP_005266913.1:p.Pro327=, NM_001291230.1:c.981C>G, NM_001291230.1:c.981C=, XM_005266856.1:c.981G>C, rs56646123, NM_001122740.1:c.975C=, XP_006715437.1:p.Pro325=, NG_008493.1:g.258892C>G, NM_001122741.1:c.975C>G, XM_011535545.1:c.975G>C, NC_000006.11:g.152265522=, NM_001291241.1:c.972C=, XM_006715374.2:c.975G>C, 1801132, rs57015982, NC_000006.11:g.152265522G>C, NC_000006.11:g.152265522G>A, XM_011535544.1:c.975G>C, XM_011535546.1:c.975G>C, NG_008493.2:g.292697C>A, XP_011533850.1:p.Pro152=, XP_011533848.1:p.Pro325=, XM_011535543.1:c.975G>C, XP_011533847.1:p.Pro325=, NC_000006.11:g.152265522G>T, NC_000006.12:g.151944387G>T, XP_011533845.1:p.Pro325=, NM_001122741.1:c.975C=, XP_011533846.1:p.Pro325=, NP_001278159.1:p.Pro327=, NM_000125.3:c.975C=, NP_001116212.1:p.Pro325=, NP_001116213.1:p.Pro325=, NC_000006.12:g.151944387G>A, XP_006715438.1:p.Pro152=, rs17847079, NM_001122740.1:c.975C>G, NP_001116214.1:p.Pro325=, NC_000006.12:g.151944387G>C, XP_011533851.1:p.Pro82=, XP_011533849.1:p.Pro325=, NG_008493.1:g.258892C=, NG_008493.2:g.292697C>T, XM_011535547.1:c.975G>C, NM_001122742.1:c.975C=, NP_000116.2:p.Pro325=, rs1801132, XM_011535549.1:c.246G>C, NM_000125.3:c.975C>G, XP_005266914.1:p.Pro324=, NG_008493.2:g.292697C>G +PA166153644 rs1801133 PA26551,PA245 CLCN6,MTHFR NC_000001.11:11796321 180 20 2 3 1 XM_005263463.2:c.419C>T, NC_000001.10:g.11856378G>A, NP_005948.3:p.Ala222Val, 386545618, 59514310, NC_000001.10:g.11856378G>C, rs386545618, NP_005948.3:p.Ala222=, XM_005263459.1:c.734C>T, NC_000001.11:g.11796321G>A, XM_005263462.3:c.665C>T, rs59514310, XP_005263516.1:p.Ala245Val, XP_005263515.1:p.Ala263Val, NC_000001.11:g.11796321G>C, XP_005263518.1:p.Ala222Val, XM_011541495.1:c.785C>T, NG_013351.1:g.14783C>T, XM_005263462.1:c.665C>T, XM_005263461.3:c.665C>T, XP_005263519.1:p.Ala222Val, NG_013351.1:g.14783C>G, NC_000001.10:g.11856378=, XM_005263461.1:c.665C>T, XP_005263520.1:p.Ala140Val, XM_005263460.3:c.665C>T, XM_005263458.1:c.788C>T, NM_005957.4:c.665C>T, XP_011539797.1:p.Ala262Val, XM_011541496.1:c.788C>T, rs4134713, 4134713, rs1801133, 1801133, XP_011539798.1:p.Ala263Val, XM_005263458.2:c.788C>T, NC_000001.11:g.11796321=, XM_005263463.1:c.419C>T, NG_013351.1:g.14783=, XP_005263517.1:p.Ala222Val, NP_005948.3:p.Ala222Gly, XM_005263460.1:c.665C>T +PA166159131 rs1801157 PA35602 CXCL12 NC_000010.11:44372809 2 1 0 0 0 17882823, NC_000010.11:g.44372809C>T, NC_000010.10:g.44868257C>T, rs1801157, 1801157, NG_016861.2:g.17289=, NC_000010.11:g.44372809=, NC_000010.10:g.44868257=, 17511709, NG_016861.2:g.17289G>A, NG_016861.1:g.17289=, NG_016861.1:g.17289G>A +PA166153645 rs1801158 PA145 DPYD NC_000001.11:97515865 28 2 0 1 0 NC_000001.11:g.97515865=, XP_005270618.1:p.Ser497Asn, rs52824375, XM_005270562.1:c.1524+33695G>A, 52824375, XP_005270620.1:p.Ser534Asn, NP_000101.2:p.Ser534=, rs199469539, NC_000001.10:g.97981421=, XM_005270562.3:c.1524+33695G>A, XM_006710397.2:c.1601G>A, NC_000001.11:g.97515865C>T, rs59516208, NG_008807.2:g.410195=, NM_000110.3:c.1601G>A, 199469539, 59516208, XP_006710460.1:p.Ser534Asn, XM_005270563.1:c.1601G>A, XP_005270621.1:p.Ser534Asn, XM_005270564.1:c.1601G>A, 1801158, NP_000101.2:p.Ser534Asn, XM_005270561.1:c.1490G>A, rs1801158, NC_000001.10:g.97981421C>T, DPYD*4, NG_008807.2:g.410195G>A +PA166153646 rs1801159 PA145 DPYD NC_000001.11:97515839 48 2 0 1 0 XM_005270562.3:c.1524+33721A>G, XM_005270563.1:c.1627A>G, NC_000001.10:g.97981395=, XP_005270620.1:p.Ile543Val, 58945530, XM_005270564.1:c.1627A>G, NG_008807.2:g.410221A>G, rs58945530, XM_005270561.1:c.1516A>G, NP_000101.2:p.Ile543Val, XP_005270618.1:p.Ile506Val, 199469541, rs17116825, XP_005270621.1:p.Ile543Val, NG_008807.2:g.410221=, NC_000001.10:g.97981395T>C, NP_000101.2:p.Ile543=, rs199469541, rs1801159, rs117999026, NM_000110.3:c.1627A>G, XM_006710397.2:c.1627A>G, 1801159, 17116825, XM_005270562.1:c.1524+33721A>G, 386545620, XP_006710460.1:p.Ile543Val, DPYD*5, 117999026, NC_000001.11:g.97515839T>C, NC_000001.11:g.97515839=, rs386545620 +PA166153647 rs1801160 PA145 DPYD NC_000001.11:97305364 35 3 1 1 0 12720468, 199469554, 12720467, rs199469554, XM_005270561.1:c.2083G>A, XP_005270619.1:p.Val660Ile, XM_005270562.3:c.1978G>A, NP_000101.2:p.Val732Ile, NC_000001.11:g.97305364=, NC_000001.11:g.97305364C>T, rs1801160, 1801160, XM_006710397.2:c.2194G>A, XP_005270618.1:p.Val695Ile, NM_000110.3:c.2194G>A, NG_008807.2:g.620696=, XM_005270562.1:c.1978G>A, XP_005270619.2:p.Val660Ile, NC_000001.10:g.97770920C>T, NG_008807.2:g.620696G>A, XP_006710460.1:p.Val732Ile, rs12720468, rs12720467, DPYD*6, XM_005270563.1:c.2194G>A, NP_000101.2:p.Val732=, NC_000001.10:g.97770920=, NR_046590.1:n.129-825C>T, XP_005270620.1:p.Val732Ile +PA166157568 rs1801177 PA232 LPL NC_000008.11:19948197 2 0 0 0 0 NG_008855.1:g.14127=, NC_000008.11:g.19948197=, NC_000008.10:g.19805708G>C, NC_000008.10:g.19805708G>A, NP_000228.1:p.Asp36=, NP_000228.1:p.Asp36His, 52806281, NG_008855.1:g.14127G>C, NP_000228.1:p.Asp36Asn, rs386481815, NM_000237.2:c.106G>A, rs1801177, 1801177, NC_000008.10:g.19805708=, NG_008855.2:g.51481=, NG_008855.1:g.14127G>A, NC_000008.11:g.19948197G>C, 386481815, NC_000008.11:g.19948197G>A, NG_008855.2:g.51481G>A, rs52806281, NG_008855.2:g.51481G>C +PA166171157 rs1801195 PA367 WRN NC_000008.11:31141764 1 0 0 0 0 60206776, NC_000008.11:g.31141764G>T, NC_000008.10:g.30999280=, NC_000008.10:g.30999280G>C, NC_000008.10:g.30999280G>A, NG_008870.1:g.113503G>T, 3815858, 2725362, NG_008870.1:g.113503=, 17381037, 17573768, NP_000544.2:p.Leu1074Phe, NC_000008.11:g.31141764G>C, NC_000008.10:g.30999280G>T, NG_008870.1:g.113503G>A, NC_000008.11:g.31141764G>A, rs1801195, NG_008870.1:g.113503G>C, 1801195, NC_000008.11:g.31141764=, 2230013, NP_000544.2:p.Leu1074= +PA166154703 rs1801249 PA73 ATP7B NC_000013.11:51941218 1 1 0 0 0 XM_005266430.3:c.3419T>C, XR_245388.1:n.3638T>C, XM_005266424.3:c.3323T>C, rs17479059, NP_001005918.1:p.Val933Ala, XM_005266432.2:c.2933T>C, XM_011535120.1:c.3005T>C, XM_011535117.1:c.3323T>C, NC_000013.11:g.51941218=, NP_000044.2:p.Val1140Asp, rs1801249, 1801249, XM_005266433.1:c.2129T>C, NP_001230111.1:p.Val1029Ala, 61425710, XM_005266434.1:c.1703T>C, XP_005266483.1:p.Val1075Ala, XR_941601.1:n.3638T>C, NG_008806.1:g.75277T>C, XM_005266427.1:c.3185T>C, XP_005266480.1:p.Val1108Ala, XP_011533421.1:p.Val1079Ala, NG_008806.1:g.75277T>A, XR_941602.1:n.3638T>C, XP_006719900.1:p.Val1108Ala, NC_000013.10:g.52515354A>T, XR_941603.1:n.3638T>C, XR_941604.1:n.3638T>C, XM_011535119.1:c.3236T>C, XP_005266490.1:p.Val710Ala, XP_005266482.1:p.Val1092Ala, XP_006719902.1:p.Val351Ala, NM_001243182.1:c.3086T>C, XM_005266431.2:c.3383T>C, XM_005266423.1:c.3323T>C, XP_011533423.1:p.Val969Ala, XP_005266481.1:p.Val1108Ala, NC_000013.10:g.52515354=, NP_000044.2:p.Val1140Ala, XM_006719838.1:c.1235T>C, XP_005266485.1:p.Val1056Ala, XM_006719837.2:c.3323T>C, XM_005266424.1:c.3323T>C, rs2277446, XP_011533420.1:p.Val1095Ala, XM_005266431.1:c.3383T>C, XP_006719901.1:p.Val412Ala, 17479059, NG_008806.1:g.75277=, XM_005266426.1:c.3224T>C, XM_005266430.1:c.3419T>C, NM_001005918.2:c.2798T>C, XP_011533422.1:p.Val1002Ala, NC_000013.10:g.52515354A>G, XM_011535121.1:c.2906T>C, XP_005266487.1:p.Val1140Ala, XM_011535118.1:c.3284T>C, XP_005266486.1:p.Val1030Ala, XM_005266427.2:c.3185T>C, XP_005266484.1:p.Val1062Ala, 117589027, XM_005266428.1:c.3167T>C, XM_006719839.1:c.1052T>C, 52833397, NP_000044.2:p.Val1140=, XM_005266423.2:c.3323T>C, XP_005266489.1:p.Val978Ala, NM_000053.3:c.3419T>C, rs61425710, XM_005266425.1:c.3275T>C, XP_011533419.1:p.Val1108Ala, XP_005266491.1:p.Val568Ala, rs52833397, XM_005266432.1:c.2933T>C, rs117589027, NC_000013.11:g.51941218A>G, XM_011535122.1:c.2087T>C, XM_005266429.1:c.3089T>C, XP_005266488.1:p.Val1128Ala, XP_011533424.1:p.Val696Ala, 2277446, NC_000013.11:g.51941218A>T +PA166153976 rs1801252 PA38 ADRB1 NC_000010.11:114044277 17 4 0 0 0 NC_000010.11:g.114044277=, rs3740152, NP_000675.1:p.Ser49=, NG_012187.1:g.5231A>G, 3740152, NC_000010.10:g.115804036=, NC_000010.10:g.115804036A>G, rs12720482, NM_000684.2:c.145A>G, NG_012187.1:g.5231=, NC_000010.11:g.114044277A>G, NP_000675.1:p.Ser49Gly, 12720482, rs1801252, 1801252 +PA166153977 rs1801253 PA38 ADRB1 NC_000010.11:114045297 48 10 0 0 0 rs28365052, NC_000010.10:g.115805056=, 12718339, 59130083, 17091259, NC_000010.10:g.115805056G>A, NG_012187.1:g.6251=, NM_000684.2:c.1165G>C, NG_012187.1:g.6251G>A, NG_012187.1:g.6251G>C, NP_000675.1:p.Gly389=, NC_000010.11:g.114045297G>C, rs17091259, 28365052, rs59130083, 1801253, NC_000010.11:g.114045297G>A, rs12718339, NC_000010.11:g.114045297=, NC_000010.10:g.115805056G>C, NP_000675.1:p.Gly389Arg, rs1801253 +PA166156525 rs1801260 PA26609,PA147357214 CLOCK,TMEM165 NC_000004.12:55435202 3 1 0 0 0 XM_011534394.1:c.898+10559A>G, NM_004898.3:c.*213T>C, rs386545625, XM_011534409.1:c.*213T>C, rs17720939, XM_005265787.1:c.*213T>C, rs60881643, 3792602, rs3792602, NC_000004.12:g.55435202A>G, 386545625, XM_011534410.1:c.*213T>C, NC_000004.11:g.56301369=, XM_006714054.2:c.*213T>C, 17720939, XM_011534411.1:c.*213T>C, 1801260, 60881643, NC_000004.12:g.55435202=, NC_000004.11:g.56301369A>G, rs1801260, NM_001267843.1:c.*213T>C +PA166155645 rs1801262 PA31564 NEUROD1 NC_000002.12:181678728 2 1 0 0 0 NC_000002.12:g.181678728T>C, NC_000002.12:g.181678728T>A, 57194596, NM_002500.4:c.133G=, rs117453892, rs17856286, rs57194596, NC_000002.11:g.182543455T>A, NC_000002.11:g.182543455T>C, NG_011820.1:g.6927G=, NM_002500.4:c.133G>A, NP_002491.2:p.Ala45=, NG_011820.1:g.6927G>A, NC_000002.12:g.181678728=, rs1801262, 1801262, NG_011820.2:g.6937G>T, NP_002491.3:p.Thr45=, 17847280, rs386545626, NP_002491.3:p.Thr45Ser, NC_000002.11:g.182543455=, NP_002491.3:p.Thr45Ala, NG_011820.2:g.6937G>A, NP_002491.2:p.Ala45Thr, 386545626, rs17847280, 117453892, 17856286 +PA166153648 rs1801265 PA145 DPYD NC_000001.11:97883329 53 2 1 1 0 NP_001153773.1:p.Cys29Arg, rs3211355, NC_000001.11:g.97883329A=, 3211355, XM_005270563.1:c.85C=, NP_000101.2:p.Cys29=, NM_000110.3:c.85T=, rs52823090, XM_005270561.1:c.39+37555T>C, XM_005270562.3:c.85T>C, XM_005270564.1:c.85C>T, NC_000001.10:g.98348885G>A, NG_008807.2:g.42731T=, NP_001153773.1:p.Cys29=, NG_008807.2:g.42731T>C, NM_000110.3:c.85T>C, XP_005270619.2:p.Cys29Arg, XP_005270620.1:p.Arg29Cys, XP_005270621.1:p.Arg29Cys, XM_006710397.2:c.85T=, NC_000001.10:g.98348885G=, NM_001160301.1:c.85T=, XM_005270564.1:c.85C=, 199469510, XP_005270620.1:p.Arg29=, XM_006710397.2:c.85T>C, XM_005270563.1:c.85C>T, rs199469510, NM_001160301.1:c.85T>C, rs57596852, NG_008807.2:g.42731=, rs1801265, 1801265, NP_000101.2:p.Cys29Arg, XP_005270619.1:p.Arg29=, XM_005270562.3:c.85T=, XM_005270561.1:c.39+37555C>T, XP_006710460.1:p.Cys29Arg, 57596852, DPYD*9A, XM_005270562.1:c.85C>T, XP_005270619.1:p.Arg29Cys, XP_005270621.1:p.Arg29=, NC_000001.11:g.97883329A>G, XP_006710460.1:p.Cys29=, 52823090, XM_005270562.1:c.85C=, XP_005270619.2:p.Cys29=, NC_000001.11:g.97883329= +PA166153649 rs1801266 PA145 DPYD NC_000001.11:97691776 7 1 0 2 0 NP_000101.2:p.Arg235Trp, XP_005270621.1:p.Arg235Trp, NG_008807.2:g.234284=, XM_005270564.1:c.703C>T, NP_000101.2:p.Arg235=, XM_006710397.2:c.703C>T, NC_000001.10:g.98157332=, rs1801266, XP_005270620.1:p.Arg235Trp, 1801266, XM_005270561.1:c.592C>T, NM_000110.3:c.703C>T, XP_006710460.1:p.Arg235Trp, NC_000001.11:g.97691776G>A, rs386545627, XP_005270619.1:p.Arg235Trp, NC_000001.10:g.98157332G>A, XP_005270619.2:p.Arg235Trp, 386545627, XP_005270618.1:p.Arg198Trp, NC_000001.11:g.97691776=, XM_005270562.1:c.703C>T, XM_005270562.3:c.703C>T, NG_008807.2:g.234284C>T, XM_005270563.1:c.703C>T, DPYD*8 +PA166153650 rs1801267 PA145 DPYD NC_000001.11:97098598 4 0 0 1 0 NC_000001.11:g.97098598C>T, NM_000110.3:c.2657G>A, rs386545628, NG_008807.2:g.827462G>A, XM_005270562.3:c.2441G>A, NP_000101.2:p.Arg886=, 386545628, NG_008807.2:g.827462=, NC_000001.11:g.97098598=, XP_005270618.1:p.Arg849His, NC_000001.10:g.97564154C>T, XM_005270561.1:c.2546G>A, XP_005270619.1:p.Arg814His, XP_005270619.2:p.Arg814His, XM_005270562.1:c.2441G>A, rs1801267, NC_000001.10:g.97564154=, 1801267, NP_000101.2:p.Arg886His, NR_046590.1:n.64+2612C>T +PA166153651 rs1801268 PA145 DPYD NC_000001.11:97079071 3 1 0 2 0 386545629, DPYD*10, XM_005270561.1:c.2872G>T, rs386545629, NC_000001.10:g.97544627C>A, NC_000001.11:g.97079071C>A, NP_000101.2:p.Val995Phe, XM_005270562.1:c.2767G>T, 1801268, NM_000110.3:c.2983G>T, XP_005270619.1:p.Val923Phe, NC_000001.10:g.97544627=, rs1801268, XP_005270619.2:p.Val923Phe, NG_008807.2:g.846989=, XP_005270618.1:p.Val958Phe, XM_005270562.3:c.2767G>T, NC_000001.11:g.97079071=, NP_000101.2:p.Val995=, NG_008807.2:g.846989G>T +PA166155376 rs1801272 PA121 CYP2A6 NC_000019.10:40848628 22 8 7 0 0 111473904, NP_000753.3:p.Leu160=, rs56844942, NC_000019.10:g.40848628A>T, NC_000019.10:g.40848628=, rs111473904, NP_000753.3:p.Leu160His, 17791931, XP_005258625.1:p.Leu109His, 56844942, NG_008377.1:g.6820=, NC_000019.9:g.41354533A>T, rs1801272, NG_008377.1:g.6820T>A, XM_005258568.1:c.326T>A, rs17791931, 1801272, 4986890, rs4986890, NC_000019.9:g.41354533=, NM_000762.5:c.479T>A +PA166153652 rs1801274 PA28063 FCGR2A NC_000001.11:161509955 21 5 0 0 0 NG_012066.2:g.9541=, XM_011509289.1:c.500A>G, NM_001136219.1:c.500A>G, NG_012066.1:g.9541A>G, XP_011507593.1:p.His167Arg, rs52796393, XM_005244960.1:c.500A>G, 58440466, NC_000001.11:g.161509955A>C, 386545630, rs17851761, NG_012066.2:g.9541A>C, XP_005245017.1:p.His167Arg, NG_012066.2:g.9541A>G, XM_011509290.1:c.500A>G, rs386545630, NC_000001.10:g.161479745=, XP_011507592.1:p.His167Arg, 17851761, XP_011507589.1:p.His167Arg, NP_067674.2:p.His166Pro, XM_011509287.1:c.500A>G, XM_011509291.1:c.500A>G, NC_000001.11:g.161509955A>G, NP_001129691.1:p.His167Arg, NC_000001.10:g.161479745A>C, NP_067674.2:p.His166Arg, NM_021642.3:c.497A>G, XM_011509288.1:c.497A>G, rs58440466, 16830404, NC_000001.11:g.161509955=, XP_011507591.1:p.His167Arg, rs16830404, rs1801274, 52796393, 1801274, XP_011507590.1:p.His166Arg, NC_000001.10:g.161479745A>G, NP_067674.2:p.His166= +PA166175786 rs1801275 PA29832 IL4R NC_000016.10:27363079 1 0 0 0 0 NC_000016.9:g.27374400A>G, 1801275, NG_012086.1:g.54150=, NG_012086.1:g.54150A>G, NP_000409.1:p.Gln576=, 61543625, NC_000016.9:g.27374400=, rs1801275, NP_000409.1:p.Gln576Arg, 52820812, NC_000016.10:g.27363079A>G, NC_000016.10:g.27363079= +PA166155646 rs1801278 PA203 IRS1 NC_000002.12:226795828 3 1 0 0 0 NC_000002.12:g.226795828=, XP_005246591.1:p.Gly971Arg, NC_000002.12:g.226795828C>T, XM_005246534.1:c.2911G>A, NG_015830.1:g.7963=, NP_005535.1:p.Gly971Arg, NC_000002.11:g.227660544=, NM_005544.2:c.2911G>A, NC_000002.11:g.227660544C>G, rs1801278, 1801278, NP_005535.1:p.Gly971=, NC_000002.12:g.226795828C>G, NC_000002.11:g.227660544C>T, NG_015830.1:g.7963G>A, rs3769648, NG_015830.1:g.7963G>C, 3769648 +PA166157569 rs1801279 PA18 NAT2 NC_000008.11:18400194 19 6 6 0 0 NG_012246.1:g.13950=, NG_012246.1:g.13950G>A, 52824535, 17126583, NP_000006.2:p.Arg64=, NM_000015.2:c.191G>A, rs52824535, NC_000008.11:g.18400194=, NP_000006.2:p.Arg64Gln, rs4134723, 1801279, 4134723, rs1801279, XP_011542660.1:p.Arg64Gln, NC_000008.11:g.18400194G>A, XM_011544358.1:c.191G>A, rs17126583, NC_000008.10:g.18257704G>A, NC_000008.10:g.18257704= +PA166157570 rs1801280 PA18 NAT2 NC_000008.11:18400344 88 10 8 0 0 NP_000006.2:p.Ile114Thr, NG_012246.1:g.14100T>C, XP_011542660.1:p.Ile114Thr, NC_000008.11:g.18400344=, NC_000008.11:g.18400344T>C, 56935242, XM_011544358.1:c.341T>C, NC_000008.10:g.18257854T>C, NG_012246.1:g.14100=, rs4134724, 4134724, NP_000006.2:p.Ile114=, rs56935242, NC_000008.10:g.18257854=, rs1801280, 1801280, NM_000015.2:c.341T>C +PA166156331 rs1801282 PA281 PPARG NC_000003.12:12351626 8 2 0 0 0 XM_011533841.1:c.-2-28078C>G, 36206375, NM_015869.4:c.34C>G, XM_011533843.1:c.34C>G, NM_005037.5:c.-2-28078C>G, 17241090, 57327233, rs17749580, NG_011749.1:g.68777C>G, rs36206375, rs57327233, rs17241090, NM_138711.3:c.-2-28078C>G, 1801282, XM_011533844.1:c.-2-28078C>G, NP_056953.2:p.Pro12=, NC_000003.12:g.12351626=, rs1801282, NC_000003.11:g.12393125=, NP_056953.2:p.Pro12Ala, NC_000003.11:g.12393125C>G, rs56460253, NG_011749.1:g.68777=, XM_011533840.1:c.-2-28078C>G, XP_011532144.1:p.Pro12Ala, 17749580, XP_011532145.1:p.Pro12Ala, NC_000003.12:g.12351626C>G, NM_138712.3:c.-2-28078C>G, 56460253, XM_011533842.1:c.34C>G +PA166170034 rs1801320 PA34176 RAD51 NC_000015.10:40695330 2 0 0 0 0 NC_000015.10:g.40695330G>C, NC_000015.9:g.40987528=, NG_012120.1:g.5170=, NG_012120.1:g.5170G>C, rs1801320, 1801320, 60106381, NC_000015.10:g.40695330=, NC_000015.9:g.40987528G>C +PA166157307 rs1801368 PA372 MAD1L1 NC_000007.14:1936821 1 1 0 0 0 NC_000007.14:g.1936821C>T, XM_005249877.1:c.1532G>A, XM_011515569.1:c.443G>A, XM_005249878.1:c.1532G>A, XP_011513871.1:p.Arg148His, NM_003550.2:c.1673G>A, NP_001291453.1:p.Arg466His, NP_003541.2:p.Arg558Pro, rs11557346, NC_000007.14:g.1936821=, NP_001013858.1:p.Arg558His, NC_000007.14:g.1936821C>G, NC_000007.13:g.1976457=, rs1801368, NC_000007.13:g.1976457C>G, XP_011513869.1:p.Arg539His, 1801368, NM_001304523.1:c.1673G>A, XM_011515571.1:c.443G>A, 61400777, NM_001013836.1:c.1673G>A, NM_001013837.1:c.1673G>A, NG_011518.1:g.301127=, NC_000007.13:g.1976457C>T, XM_011515567.1:c.1616G>A, rs61400777, NP_003541.2:p.Arg558His, NP_001013859.1:p.Arg558His, NG_011518.1:g.301127G>A, XP_005249933.1:p.Arg558His, NM_001304525.1:c.41G>A, NP_001291452.1:p.Arg558His, NG_011518.1:g.301127G>C, 2280551, XP_005249934.1:p.Arg511His, XM_005249876.1:c.1673G>A, XP_005249935.1:p.Arg511His, rs2280551, XM_005249879.1:c.1397G>A, NP_001291454.1:p.Arg14His, 11557346, NM_001304524.1:c.1397G>A, XP_005249936.1:p.Arg466His, XP_011513873.1:p.Arg148His, NP_003541.2:p.Arg558= +PA166156776 rs1801394 PA145148868,PA31277 FASTKD3,MTRR NC_000005.10:7870860 20 6 0 0 0 NM_002454.2:c.66A>G, XM_005248304.1:c.111A>G, XM_011514043.1:c.147A>G, XP_005248361.1:p.Ile37Met, XM_006714498.1:c.-1906T>C, XP_005248362.1:p.Ile22Met, XR_427664.1:n.-1823T>C, XR_241701.1:n.169A>G, XM_011514044.1:c.66A>G, XP_011512346.1:p.Ile22Met, XM_005248305.1:c.66A>G, XP_011512347.1:p.Ile49Met, XP_006714537.1:p.Ile49Met, NR_073608.1:n.-1823T>C, XP_011512345.1:p.Ile49Met, NG_008856.1:g.6757A>G, NP_076915.3:p.Ile22=, NR_036553.1:n.-1823T>C, NC_000005.10:g.7870860A>G, NR_134482.1:n.203A>G, NP_076915.2:p.Ile49Met, NR_134481.1:n.203A>G, XM_006714474.2:c.147A>G, XM_011514045.1:c.147A>G, NC_000005.9:g.7870973A>G, NC_000005.10:g.7870860=, XR_925614.1:n.169A>G, NG_033101.1:g.3178=, NM_024091.3:c.-1995T>C, NM_024010.2:c.147A>G, NP_076915.3:p.Ile22Met, NR_134480.1:n.203A>G, XR_241703.1:n.162A>G, NC_000005.9:g.7870973=, XR_241702.1:n.169A>G, rs52813630, NG_033101.1:g.3178T>C, rs1801394, 52813630, 1801394, NP_002445.2:p.Ile22Met, XR_925615.1:n.169A>G, NG_008856.1:g.6757= +PA166180286 rs1801516 PA61 ATM NC_000011.10:108304735 2 1 0 0 0 60879649, NC_000011.9:g.108175462G>A, NP_000042.3:p.Asp1853Asn, 52821794, 17503060, NG_009830.1:g.86904=, rs1801516, 1801516, NC_000011.10:g.108304735=, NG_009830.1:g.86904G>A, NC_000011.9:g.108175462=, NC_000011.10:g.108304735G>A, NP_000042.3:p.Asp1853= +PA166155191 rs1801689 PA24903 APOH NC_000017.11:66214462 1 0 0 0 0 NP_000033.2:p.Cys325Gly, NC_000017.10:g.64210580A>C, NP_000033.2:p.Cys325=, NP_000033.2:p.Cys325Arg, NC_000017.10:g.64210580A>G, XM_005257304.1:c.760T>G, NC_000017.11:g.66214462A>C, 52792576, NC_000017.11:g.66214462A>G, NG_012045.1:g.19977=, rs4791077, 4791077, rs17690416, rs1801689, NG_012045.1:g.19977T>C, 1801689, NG_012045.1:g.19977T>G, NC_000017.10:g.64210580=, NC_000017.11:g.66214462=, XP_005257361.1:p.Cys254Gly, NM_000042.2:c.973T>G, 17690416, rs52792576 +PA166155192 rs1801690 PA24903 APOH NC_000017.11:66212167 1 0 0 0 0 XM_005257304.1:c.791G>C, 8178862, rs17763527, NG_012045.1:g.22272G>C, NP_000033.2:p.Trp335Ser, rs8178862, NC_000017.10:g.64208285=, NC_000017.10:g.64208285C>G, NM_000042.2:c.1004G>C, NC_000017.11:g.66212167C>G, XP_005257361.1:p.Trp264Ser, NC_000017.11:g.66212167=, 17763527, rs1801690, 1801690, NP_000033.2:p.Trp335=, NG_012045.1:g.22272= +PA166155647 rs1801701 PA50 APOB NC_000002.12:21005955 1 1 0 0 0 NC_000002.12:g.21005955=, 17247291, NC_000002.11:g.21228827=, NC_000002.11:g.21228827C>T, rs386545637, 52810909, rs52810909, 1801701, rs57671111, 386545637, NG_011793.1:g.43119G>A, rs1801701, NM_000384.2:c.10913G>A, NG_011793.1:g.43119=, NP_000375.3:p.Arg3638Gln, NC_000002.12:g.21005955C>T, NP_000375.2:p.Arg3638Gln, XM_011532809.1:c.5869+4778G>A, rs17247291, 57671111, NP_000375.3:p.Arg3638= +PA166246042 rs1803155 PA24363 AADAC NC_000003.12:151827813 4 1 0 0 0 NC_000003.12:g.151827813=, NC_000003.11:g.151545601=, 386545657, 3732547, NC_000003.11:g.151545601G>T, NC_000003.12:g.151827813G>T, 52798024, NP_001077.2:p.Val281Ile, 1803155, rs1803155, NP_001077.2:p.Val281=, NC_000003.12:g.151827813G>A, NC_000003.11:g.151545601G>A, 56910669, NP_001077.2:p.Val281Phe +PA166161395 rs1803254 PA26210 CD33 NC_000019.10:51239889 1 0 0 0 0 NC_000019.10:g.51239889G>C, NC_000019.10:g.51239889=, 17728788, 1803254, rs1803254, 57636169, NC_000019.9:g.51743144=, NC_000019.9:g.51743144G>C +PA166156332 rs1803274 PA25294 BCHE NC_000003.12:165773492 19 4 0 0 0 rs17713328, rs3773869, 52816414, NG_009031.1:g.68974G>A, NP_000046.1:p.Ala567Thr, 60242395, NG_009031.1:g.68974=, XP_005247742.1:p.Ala608Thr, rs17846898, 3773869, NP_000046.1:p.Ala567=, NC_000003.11:g.165491280=, 17713328, NC_000003.12:g.165773492=, XM_005247685.1:c.1822G>A, 17846898, 1803274, rs1803274, rs60242395, NC_000003.11:g.165491280C>T, rs52816414, NC_000003.12:g.165773492C>T, NM_000055.2:c.1699G>A +PA166159620 rs1803545 PA30616 MAPK1 NC_000022.11:21772876 1 0 0 0 0 2276009, 1803545, NC_000022.10:g.22127165=, NC_000022.10:g.22127165G>A, NP_002736.3:p.Asp321=, rs1803545, 59810675, NG_023054.2:g.99805C>T, NC_000022.11:g.21772876=, NC_000022.11:g.21772876G>A, NG_023054.2:g.99805= +PA166155648 rs1804645 PA31470 NCOA1 NC_000002.12:24752089 5 1 0 0 0 XP_011531443.1:p.Pro1167Ser, NG_029014.2:g.265040=, XP_005264682.1:p.Pro1272Ser, NC_000002.12:g.24752089=, NP_003734.3:p.Pro1272Ser, NC_000002.11:g.24974958C>T, XM_005264625.1:c.3814C>T, XM_005264626.1:c.3814C>T, NP_671766.1:p.Pro1272Ser, NM_003743.4:c.3814C>T, NG_029014.2:g.265040C>T, XM_005264627.1:c.3814C>T, XM_005264628.1:c.3814C>T, 17838346, XP_005264683.1:p.Pro1272Ser, NP_003734.3:p.Pro1272=, XM_011533141.1:c.3499C>T, NP_671756.1:p.Pro1272Ser, XP_005264684.1:p.Pro1272Ser, NM_147223.2:c.3814C>T, NM_147233.2:c.3814C>T, rs17838346, NC_000002.11:g.24974958=, NC_000002.12:g.24752089C>T, 1804645, rs1804645, XP_005264685.1:p.Pro1272Ser, NG_029014.1:g.172613C>T, NG_029014.1:g.172613= +PA166155020 rs1805007 PA30673 MC1R NC_000016.10:89919709 1 0 0 0 0 NG_012026.1:g.6831C>T, NC_000016.9:g.89986117C>G, NC_000016.10:g.89919709C>A, 386505388, 56569770, NP_002377.4:p.Arg151Gly, NC_000016.10:g.89919709C>G, rs3212380, NP_002377.4:p.Arg151Cys, 3212380, NC_000016.10:g.89919709C>T, NC_000016.9:g.89986117C>T, rs1805007, NP_002377.4:p.Arg151=, 1805007, NM_002386.3:c.451C>T, NG_027810.1:g.2701=, NC_000016.9:g.89986117=, rs56569770, NG_027810.1:g.2701C>T, 17719568, NC_000016.10:g.89919709=, NG_027810.1:g.2701C>G, NG_012026.1:g.6831=, NG_012026.1:g.6831C>G, NG_012026.1:g.6831C>A, rs17719568, NG_027810.1:g.2701C>A, NP_002377.4:p.Arg151Ser, NC_000016.9:g.89986117C>A, rs386505388 +PA166155021 rs1805008 PA30673 MC1R NC_000016.10:89919736 1 0 0 0 0 NG_027810.1:g.2728C>T, NG_027810.1:g.2728=, NC_000016.10:g.89919736=, NC_000016.10:g.89919736C>T, 1805008, 386545682, NP_002377.4:p.Arg160=, rs1805008, rs3212382, 3212382, NC_000016.9:g.89986144=, NP_002377.4:p.Arg160Trp, NM_002386.3:c.478C>T, rs386545682, NG_012026.1:g.6858C>T, NG_012026.1:g.6858=, NC_000016.9:g.89986144C>T +PA166155022 rs1805010 PA29832 IL4R NC_000016.10:27344882 1 1 0 0 0 XM_011545833.1:c.78A>G, NM_001257997.1:c.-253A>G, XP_011544132.1:p.Val26=, NP_000409.1:p.Ile75Leu, XP_011544135.1:p.Val26=, XM_011545829.1:c.78A>G, NP_000409.1:p.Ile75Val, XP_011544127.1:p.Ile75Val, XM_011545826.1:c.223A>G, XM_011545828.1:c.-45A>G, XM_011545832.1:c.78A>G, XP_005255362.1:p.Ile135Val, NG_012086.1:g.35953A>C, XR_243278.1:n.422A>G, XM_005255305.1:c.403A>G, XP_011544131.1:p.Val26=, NM_001257406.1:c.223A>G, NM_000418.3:c.223A>G, NP_001244335.1:p.Ile75Val, NG_012086.1:g.35953A>T, 3116576, rs3024558, NG_012086.1:g.35953A>G, 117802100, XP_005255363.1:p.Ile100Val, NC_000016.9:g.27356203=, 1805010, XM_005255307.1:c.78A>G, NC_000016.9:g.27356203A>C, NC_000016.9:g.27356203A>G, XM_011545825.1:c.223A>G, 3024558, XP_011544128.1:p.Ile75Val, XM_011545831.1:c.78A>G, NM_001257407.1:c.178A>G, XP_011544133.1:p.Val26=, rs17513665, NP_000409.1:p.Ile75Phe, NP_001244336.1:p.Ile60Val, XP_005255366.1:p.Ile135Val, NC_000016.10:g.27344882A>C, XP_005255364.1:p.Val26=, NC_000016.10:g.27344882A>G, XM_011545834.1:c.-49A>G, XM_011545827.1:c.223A>G, rs117802100, XM_011545830.1:c.78A>G, 17513665, NC_000016.10:g.27344882=, XM_005255306.1:c.298A>G, NC_000016.10:g.27344882A>T, NC_000016.9:g.27356203A>T, XP_011544129.1:p.Ile75Val, NG_012086.1:g.35953=, XM_005255309.1:c.403A>G, XP_011544134.1:p.Val26=, rs3116576, NP_000409.1:p.Ile75=, rs1805010 +PA166155023 rs1805015 PA29832 IL4R NC_000016.10:27362859 2 1 0 0 0 XP_011544134.1:p.Ser404Pro, XP_005255362.1:p.Ser563Pro, NM_001257997.1:c.1027T>C, NP_001244336.1:p.Ser488Pro, XM_011545833.1:c.1210T>C, XM_011545832.1:c.1210T>C, XM_011545830.1:c.1210T>C, XM_011545831.1:c.1210T>C, XP_005255364.1:p.Ser404Pro, XP_011544127.1:p.Ser503Pro, XP_005255363.1:p.Ser528Pro, XP_006721106.1:p.Ser186Pro, NM_001257406.1:c.1507T>C, XM_005255305.1:c.1687T>C, NP_001244335.1:p.Ser503Pro, rs17513769, XM_005255309.1:c.*542T>C, 17513769, NG_012086.1:g.53930=, XP_011544136.1:p.Ser362Pro, XP_011544133.1:p.Ser404Pro, 60163518, NM_000418.3:c.1507T>C, XM_011545834.1:c.1084T>C, XM_005255307.1:c.1210T>C, 1805015, XM_011545828.1:c.1240T>C, XP_011544128.1:p.Ser503Pro, XP_011544132.1:p.Ser404Pro, XM_011545829.1:c.1210T>C, NC_000016.10:g.27362859T>C, XM_005255306.1:c.1582T>C, NP_001244926.1:p.Ser343Pro, NP_000409.1:p.Ser503=, XP_011544129.1:p.Ser503Pro, NC_000016.10:g.27362859=, XM_011545826.1:c.1507T>C, NC_000016.9:g.27374180=, XM_011545825.1:c.1507T>C, XM_011545827.1:c.1507T>C, rs60163518, NM_001257407.1:c.1462T>C, XP_011544130.1:p.Ser414Pro, NP_000409.1:p.Ser503Pro, XP_011544135.1:p.Ser404Pro, XM_005255308.2:c.616T>C, XP_011544131.1:p.Ser404Pro, XM_005255308.1:c.616T>C, XP_005255365.1:p.Ser206Pro, rs1805015, XM_006721043.1:c.556T>C, NG_012086.1:g.53930T>C, NC_000016.9:g.27374180T>C +PA166155281 rs1805034 PA36601 TNFRSF11A NC_000018.10:62360008 2 1 0 0 0 NP_003830.1:p.Ala192=, XP_011524547.1:p.Ala156Val, NM_001270951.1:c.575C>T, XP_011524546.1:p.Ala197Val, 57818955, NC_000018.10:g.62360008C>T, NG_008098.1:g.39694C>T, NP_001257880.1:p.Ala192Val, NM_001270949.1:c.575C>T, NP_001257878.1:p.Ala192Val, NP_003830.1:p.Ala192Val, NG_008098.1:g.39694=, NC_000018.10:g.62360008=, NP_001265197.1:p.Ala178Val, XM_011526245.1:c.467C>T, rs57818955, NM_003839.2:c.575C>T, NM_001278268.1:c.533C>T, XP_005266834.1:p.Ala192Val, NC_000018.9:g.60027241C>T, NC_000018.9:g.60027241=, NP_001257879.1:p.Ala192Val, XM_011526244.1:c.590C>T, XR_935263.1:n.605C>T, 1805034, rs1805034, NM_001270950.1:c.575C>T, XM_005266777.1:c.575C>T, NM_003839.3:c.575C>T +PA166153653 rs1805054 PA29560 HTR6 NC_000001.11:19666020 6 1 0 0 0 NC_000001.10:g.19992513=, NC_000001.10:g.19992513C>T, NP_000862.1:p.Tyr89=, NC_000001.11:g.19666020=, NM_000871.2:c.267C>T, 58500287, rs58500287, rs1805054, NC_000001.11:g.19666020C>T, 1805054 +PA166153654 rs1805087 PA31272 MTR NC_000001.11:236885200 19 6 0 0 0 XM_005273143.1:c.2603A>G, XP_005273202.1:p.Asp373Gly, XM_005273144.1:c.2318A>G, XM_005273140.1:c.2924A>G, XP_011542496.1:p.Asp975Gly, NC_000001.10:g.237048500A>G, NM_001291939.1:c.2603A>G, XM_005273142.1:c.2666A>G, 56618494, NP_000245.2:p.Asp919Gly, NP_000245.2:p.Asp919=, NC_000001.11:g.236885200A>G, NM_001291940.1:c.1535A>G, NP_001278868.1:p.Asp868Gly, 61036243, XM_011544194.1:c.2924A>G, rs1805087, XP_005273197.1:p.Asp975Gly, XP_011542495.1:p.Asp856Gly, 1805087, XP_006711833.1:p.Asp607Gly, NG_008959.1:g.94920=, rs17658739, XM_005273145.1:c.1118A>G, rs56618494, XM_011544193.1:c.2567A>G, NC_000001.10:g.237048500=, rs61036243, NC_000001.11:g.236885200=, XP_005273199.1:p.Asp889Gly, XP_006711832.1:p.Asp919Gly, NG_008959.1:g.94920A>G, XM_006711770.1:c.1820A>G, 17658739, NM_000254.2:c.2756A>G, XM_005273141.1:c.2753A>G, XM_006711769.2:c.2756A>G, XP_005273200.1:p.Asp868Gly, XM_005273141.3:c.2753A>G, XP_005273198.1:p.Asp918Gly, NP_001278869.1:p.Asp512Gly, XP_005273201.1:p.Asp773Gly +PA166153655 rs1805094 PA229,PA134913422 LEPR,LEPROT NC_000001.11:65610269 1 1 0 0 0 rs1805094, 1805094, XP_005271007.1:p.Lys656Asn, NM_001198688.1:c.1968G>C, NG_015831.2:g.194705=, XM_005270951.1:c.1968G>C, XM_005270952.1:c.1968G>C, rs2228303, NM_001198689.1:c.1968G>C, 17127774, XM_005270950.1:c.1968G>C, NC_000001.11:g.65610269=, XP_005271009.1:p.Lys656Asn, NM_001003680.3:c.1968G>C, 2228303, 52811589, NC_000001.10:g.66075952=, NC_000001.11:g.65610269G>C, NM_001198687.1:c.1968G>C, NP_001185617.1:p.Lys656Asn, rs52811589, NP_001003679.1:p.Lys656Asn, NM_001003679.3:c.1968G>C, NP_002294.2:p.Lys656=, NC_000001.10:g.66075952G>C, rs8179183, 8179183, NG_015831.2:g.194705G>T, NP_001003680.1:p.Lys656Asn, NM_002303.5:c.1968G>C, NG_015831.2:g.194705G>C, NC_000001.11:g.65610269G>T, XP_005271008.1:p.Lys656Asn, NP_001185618.1:p.Lys656Asn, NC_000001.10:g.66075952G>T, NP_002294.2:p.Lys656Asn, NP_001185616.1:p.Lys656Asn, rs17127774 +PA166157308 rs1805123 PA212 KCNH2 NC_000007.14:150948446 6 0 0 0 0 NG_008916.1:g.34481A>C, NM_172057.2:c.1670A>T, XP_011514488.1:p.Lys897Thr, rs8179016, 2968861, NP_000229.1:p.Lys897Met, rs2968861, 8179016, NP_000229.1:p.Lys897Arg, XP_011514487.1:p.Lys797Met, NM_172057.2:c.1670A>C, NG_008916.1:g.34481A>T, NG_008916.1:g.34481=, NM_000238.3:c.2690A>C, NC_000007.14:g.150948446T>G, NP_742054.1:p.Lys557Thr, NC_000007.14:g.150948446T>C, rs1805123, 1805123, NG_008916.1:g.34481A>G, NC_000007.14:g.150948446T>A, NC_000007.13:g.150645534=, XP_011514488.1:p.Lys897Met, XM_011516185.1:c.2390A>T, XM_011516186.1:c.2690A>T, NP_000229.1:p.Lys897Thr, NM_000238.3:c.2690A>T, NC_000007.13:g.150645534T>A, NC_000007.13:g.150645534T>C, XM_011516185.1:c.2390A>C, XM_011516186.1:c.2690A>C, XP_011514487.1:p.Lys797Thr, NP_000229.1:p.Lys897=, NC_000007.13:g.150645534T>G, NC_000007.14:g.150948446=, NP_742054.1:p.Lys557Met +PA166156333 rs1805124 PA304 SCN5A NC_000003.12:38603929 1 0 0 0 0 XP_006713345.1:p.His558Arg, XM_011533992.1:c.1544A>G, NM_001160160.1:c.1673A>G, 117870225, NM_001160161.1:c.1673A>G, NC_000003.11:g.38645420T>C, 58801095, rs117870225, NG_008934.1:g.50744=, NM_000335.4:c.1673A>G, NP_001092875.1:p.His558Arg, XM_011533991.1:c.1673A>G, XP_011532294.1:p.His515Arg, NP_001153633.1:p.His558Arg, NC_000003.12:g.38603929=, rs1805124, NP_000326.2:p.His558Arg, 1805124, XP_011532293.1:p.His558Arg, NP_000326.2:p.His558=, NG_008934.1:g.50744A>G, NC_000003.12:g.38603929T>C, NM_001099404.1:c.1673A>G, NM_001099405.1:c.1673A>G, XM_006713282.2:c.1673A>G, rs58801095, NM_198056.2:c.1673A>G, NP_001153632.1:p.His558Arg, NC_000003.11:g.38645420=, NP_932173.1:p.His558Arg, NP_001092874.1:p.His558Arg +PA166156334 rs1805125 PA304 SCN5A NC_000003.12:38579455 1 0 0 0 0 NP_000326.2:p.Pro1089Gln, NP_001153632.1:p.Pro1089Leu, NG_053884.1:g.1194=, XM_006713282.2:c.3269C>T, NP_000326.2:p.Pro1089=, NM_000335.4:c.3266C>T, NM_001160160.1:c.3266C>T, NC_000003.12:g.38579455G>T, NC_000003.11:g.38620946G>T, NG_008934.1:g.75218C>A, NG_008934.1:g.75218=, NM_001099405.1:c.3269C>T, NM_001099404.1:c.3269C>T, 1805125, NM_001160161.1:c.3228+1476C>T, NP_932173.1:p.Pro1090Leu, XM_011533992.1:c.3140C>T, XP_011532294.1:p.Pro1047Leu, rs1805125, NP_001092875.1:p.Pro1090Leu, NG_053884.1:g.1194G>T, XP_011532293.1:p.Pro1089Leu, NC_000003.12:g.38579455G>A, NG_008934.1:g.75218C>T, NC_000003.11:g.38620946G>A, NP_001092874.1:p.Pro1090Leu, NM_198056.2:c.3269C>T, NC_000003.11:g.38620946=, NP_000326.2:p.Pro1089Leu, XM_011533991.1:c.3266C>T, XP_006713345.1:p.Pro1090Leu, NG_053884.1:g.1194G>A, NC_000003.12:g.38579455= +PA166322101 rs1805127 PA211 KCNE1 NC_000021.9:34449523 1 0 0 0 0 8179018, NC_000021.9:g.34449523=, NC_000021.9:g.34449523T>G, 61082521, NG_009091.1:g.66793A>C, 52827303, 60471919, NG_009091.1:g.66793=, 17846179, 199809486, 17859193, NC_000021.8:g.35821821T>G, NP_000210.2:p.Ser38Arg, NP_000210.2:p.Ser38Gly, NC_000021.8:g.35821821T>C, rs1805127, 1805127, NP_000210.2:p.Ser38=, NG_009091.1:g.66793A>G, NC_000021.9:g.34449523T>C, NC_000021.8:g.35821821= +PA166155994 rs1805128 PA211 KCNE1 NC_000021.9:34449382 3 2 0 0 0 XM_011529555.1:c.13+6004G>A, NM_001127670.3:c.253G>A, XM_005260972.1:c.316G>A, rs17173507, NC_000021.9:g.34449382C>T, NC_000021.9:g.34449382=, NM_001270403.2:c.253G>A, rs52820407, NM_001127670.1:c.253G>A, NP_001121142.1:p.Asp85Asn, NP_001257334.1:p.Asp85Asn, NP_001121141.1:p.Asp85Asn, NG_009091.1:g.66934=, XM_005260973.1:c.13+6004G>A, NP_001257332.1:p.Asp85Asn, rs1805128, NC_000021.8:g.35821680C>T, 1805128, NP_001257333.1:p.Asp85Asn, NM_001127668.3:c.253G>A, NM_000219.5:c.253G>A, NP_001257331.1:p.Asp85Asn, NP_001121140.1:p.Asp85Asn, NM_001270402.2:c.253G>A, 52820407, NP_000210.2:p.Asp85Asn, XP_005261029.1:p.Asp106Asn, NG_009091.1:g.66934G>A, NM_001270405.2:c.253G>A, NM_000219.3:c.253G>A, XM_011529557.1:c.279+9272G>A, NM_001127669.3:c.253G>A, NM_001270404.2:c.253G>A, 17173507, NC_000021.8:g.35821680=, NP_000210.2:p.Asp85= +PA166157571 rs1805158 PA18 NAT2 NC_000008.11:18400193 1 0 0 0 0 4986995, NP_000006.2:p.Arg64Trp, rs4986995, NP_000006.2:p.Arg64=, NC_000008.11:g.18400193C>T, XM_011544358.1:c.190C>T, 52819949, NC_000008.10:g.18257703C>T, NC_000008.11:g.18400193=, XP_011542660.1:p.Arg64Trp, 1805158, NG_012246.1:g.13949C>T, NG_012246.1:g.13949=, rs52819949, rs1805158, NC_000008.10:g.18257703C>A, NG_012246.1:g.13949C>A, NM_000015.2:c.190C>T, NC_000008.11:g.18400193C>A, NC_000008.10:g.18257703= +PA166180520 rs1805343 PA34890 RXRA NC_000009.12:134436440 1 0 0 0 0 NC_000009.11:g.137328286G>C, NC_000009.11:g.137328286G>A, NC_000009.12:g.134436440=, NC_000009.12:g.134436440G>C, NC_000009.12:g.134436440G>A, 1805343, 35909023, 57159023, rs1805343, NC_000009.11:g.137328286= +PA166163399 rs1806191 PA28980 GRIN2B NC_000012.12:13563704 1 0 0 0 0 1806191, NG_031854.2:g.423309C>T, rs1806191, NC_000012.12:g.13563704G>A, NP_000825.2:p.His1178=, NC_000012.11:g.13716638G>T, NP_000825.2:p.His1178Gln, 59526368, NC_000012.11:g.13716638=, NC_000012.12:g.13563704G>T, NC_000012.11:g.13716638G>A, NC_000012.12:g.13563704=, NG_031854.2:g.423309C>A, NG_031854.2:g.423309=, 17822309 +PA166154519 rs1806201 PA28980 GRIN2B NC_000012.12:13564574 4 3 0 0 0 XM_005253351.1:c.450C>T, NC_000012.12:g.13564574G>A, 60615287, XM_011520628.1:c.2664C>T, XM_011520629.1:c.2664C>T, XM_011520630.1:c.2664C>T, NM_000834.3:c.2664C>T, rs60615287, rs17220215, NC_000012.11:g.13717508=, NG_031854.1:g.420515C>T, XP_005253408.1:p.Thr150=, 3751259, NG_031854.2:g.422439=, XM_005253351.2:c.450C>T, NC_000012.12:g.13564574=, rs3751259, NC_000012.11:g.13717508G>A, 17220215, XP_011518930.1:p.Thr888=, 1806201, rs1806201, NG_031854.2:g.422439C>T, NP_000825.2:p.Thr888=, XP_011518932.1:p.Thr888=, XP_011518931.1:p.Thr888= +PA166322981 rs1807493 PA143485467,PA145149451 PHETA2,SMDT1 NC_000022.11:42077856 2 0 0 0 0 rs1807493, NP_001002034.2:p.Ala188Val, NC_000022.10:g.42473860C>A, NP_001002034.2:p.Ala188=, NC_000022.10:g.42473860C>G, NC_000022.11:g.42077856C>T, NC_000022.11:g.42077856C>G, NP_001002034.2:p.Ala188Glu, NC_000022.11:g.42077856C>A, NC_000022.10:g.42473860C>T, NC_000022.11:g.42077856=, NC_000022.10:g.42473860=, 1807493, 17845905, 17858880, NP_001002034.2:p.Ala188Gly +PA166269761 rs1807714 NC_000022.11:35395810 1 0 0 0 0 17882758, 57547275, NC_000022.10:g.35791803G>C, NG_023030.1:g.19744G>C, 1807714, NC_000022.11:g.35395810=, NC_000022.10:g.35791803=, NG_023030.1:g.19744=, rs1807714, NC_000022.10:g.35791803G>A, NC_000022.11:g.35395810G>A, NC_000022.11:g.35395810G>C, NG_023030.1:g.19744G>A +PA166155649 rs1808458 NC_000002.12:118121677 1 0 0 0 0 NC_000002.12:g.118121677=, 1808458, rs1808458, rs60780906, NC_000002.12:g.118121677C>T, 386545786, 60780906, NC_000002.11:g.118879253C>T, NC_000002.11:g.118879253=, rs386545786 +PA166155377 rs1809810 PA121 CYP2A6 NC_000019.10:40844759 4 3 3 0 0 NC_000019.10:g.40844759T>G, NG_008377.1:g.10689=, NC_000019.10:g.40844759=, NP_000753.3:p.Tyr392=, XM_005258568.1:c.1022T>A, rs1809810, NM_000762.5:c.1175A>T, NP_000753.3:p.Tyr392Ser, rs60147540, NC_000019.9:g.41350664A>G, 60147540, NC_000019.10:g.40844759T>A, NG_008377.1:g.10689A>T, NP_000753.3:p.Tyr392Phe, NC_000019.10:g.40844759T>C, NG_008377.1:g.10689A=, NC_000019.9:g.41350664A>C, XP_005258625.1:p.Phe341Tyr, 1809810, NG_008377.1:g.10689A>G, NM_000762.5:c.1175A=, NC_000019.9:g.41350664A>T, NP_000753.3:p.Tyr392Cys, NG_008377.1:g.10689A>C +PA166154219 rs181297724 PA124 CYP2C19 NC_000010.11:94775539 7 0 0 0 0 rs181297724, NG_008384.3:g.17859=, 181297724, NP_000760.1:p.Ala161=, NG_008384.2:g.17834G>C, NP_000760.1:p.Ala161Pro, NG_008384.3:g.17859G>C, NC_000010.10:g.96535296G>C, NM_000769.1:c.481G>C, NG_008384.3:g.17859G>A, NC_000010.10:g.96535296G>A, NC_000010.10:g.96535296=, NM_000769.2:c.481G>C, NC_000010.11:g.94775539G>A, NC_000010.11:g.94775539=, NC_000010.11:g.94775539G>C, NP_000760.1:p.Ala161Thr +PA166154342 rs1813443 PA26689 CNTN5 NC_000011.10:100140279 1 0 0 0 0 1813443, rs1813443, NG_047156.1:g.1124304G>A, NM_001243270.1:c.1581-50847G>C, XM_011542872.1:c.1581-50847G>C, NC_000011.10:g.100140279G>C, NC_000011.9:g.100011011=, XM_011542871.1:c.1359-50847G>C, NC_000011.10:g.100140279G>A, NC_000011.9:g.100011011G>A, NC_000011.9:g.100011011G>C, XM_011542873.1:c.1581-50847G>C, NG_047156.1:g.1124304=, NM_001243271.1:c.1581-50847G>C, NM_014361.3:c.1581-50847G>C, NC_000011.10:g.100140279=, NG_047156.1:g.1124304G>C, NM_175566.2:c.1359-50847G>C +PA166178425 rs181501757 PA354 TOP2A NC_000017.11:40398140 2 1 0 0 0 NC_000017.10:g.38554392=, rs181501757, 181501757, NG_027678.2:g.24811=, NC_000017.10:g.38554392G>A, NC_000017.11:g.40398140=, NC_000017.11:g.40398140G>A, NG_027678.1:g.24811C>T, NG_027678.2:g.24811C>T, NG_027678.1:g.24811= +PA166156526 rs1816702 PA36550 TLR2 NC_000004.12:153688371 1 1 0 0 0 rs1816702, 1816702, NC_000004.12:g.153688371T>A, XM_005263197.1:c.-17+383T>C, NC_000004.12:g.153688371T>C, NC_000004.12:g.153688371T>G, NM_003264.4:c.-17+324T>C, 59426892, NM_001318790.1:c.-17+324T>C, NC_000004.12:g.153688371=, NM_001318787.1:c.-301+383T>C, XM_005263197.2:c.-17+383T>C, XM_011532215.1:c.-17+383T>C, NC_000004.11:g.154609523=, rs59426892, XM_005263194.1:c.-17+324T>C, NC_000004.11:g.154609523T>A, XM_005263194.2:c.-17+324T>C, NC_000004.11:g.154609523T>C, NM_001318795.1:c.-17+383T>C, NG_016229.1:g.9083=, NM_001318791.1:c.-17+324T>C, NC_000004.11:g.154609523T>G, XM_011532216.1:c.-17+4011T>C, XM_005263196.2:c.-17+324T>C, NM_001318789.1:c.-17+324T>C, XM_005263196.1:c.-17+324T>C, XM_005263195.1:c.-17+383T>C, NM_001318796.1:c.-17+383T>C, XM_005263195.2:c.-17+383T>C, NG_016229.1:g.9083T>A, NG_016229.1:g.9083T>C, NG_016229.1:g.9083T>G, NM_001318793.1:c.-17+324T>C +PA166163546 rs181781 PA29830 IL3 NC_000005.10:132059422 1 1 0 0 0 59186466, NC_000005.10:g.132059422G>A, 17693022, NC_000005.10:g.132059422=, 655578, 60797652, rs181781, NC_000005.9:g.131395115G>A, 246845, NC_000005.9:g.131395115=, 181781 +PA166170597 rs181937009 NC_000006.12:140064258 1 0 0 0 0 NC_000006.11:g.140385395A>G, NC_000006.12:g.140064258=, NC_000006.12:g.140064258A>G, rs181937009, NC_000006.11:g.140385395=, 181937009 +PA166170375 rs1819741 PA34372 RGS2 NC_000001.11:192815708 1 0 0 0 0 NC_000001.11:g.192815708T>C, NC_000001.10:g.192784838T>C, NC_000001.11:g.192815708T>A, NC_000001.10:g.192784838T>A, 1819741, NC_000001.10:g.192784838=, rs1819741, 59422043, NC_000001.11:g.192815708= +PA166154343 rs1820453 PA38103 YAP1 NC_000011.10:102109604 1 0 0 0 0 XM_005271383.2:c.-1245C>A, rs386545996, XM_005271381.2:c.-1245C>A, NG_029530.2:g.4144C>G, NC_000011.9:g.101980335C>G, 386545996, NC_000011.9:g.101980335C>T, NM_006106.4:c.-1245C>A, XM_005271380.1:c.-1245C>A, XM_005271379.1:c.-1245C>A, XM_005271378.1:c.-1245C>A, NC_000011.10:g.102109604C>T, NG_029530.2:g.4144C>A, XM_005271380.2:c.-1245C>A, XM_005271378.2:c.-1245C>A, NG_029530.1:g.4144C>G, NC_000011.9:g.101980335=, NC_000011.10:g.102109604C>A, NM_001282098.1:c.-1245C>A, NC_000011.10:g.102109604C>G, NM_001282099.1:c.-1245C>A, rs3752686, 3752686, NG_029530.2:g.4144=, NG_029530.1:g.4144=, NC_000011.10:g.102109604=, NM_001130145.2:c.-1245C>A, NG_029530.1:g.4144C>T, NM_001282097.1:c.-1245C>A, NM_001195044.1:c.-1245C>A, XM_005271381.1:c.-1245C>A, NM_001282100.1:c.-1245C>A, XM_005271382.1:c.-1245C>A, NM_001282101.1:c.-1245C>A, rs1820453, XM_005271383.1:c.-1245C>A, NG_029530.2:g.4144C>T, NC_000011.9:g.101980335C>A, XM_005271386.1:c.-1245C>A, 1820453, XM_005271384.1:c.-1245C>A, NG_029530.1:g.4144C>A, XM_005271385.1:c.-1245C>A +PA166156281 rs182052 PA134933118 ADIPOQ NC_000003.12:186842993 1 0 0 0 0 NM_004797.3:c.-9+244G>A, XM_011513324.1:c.-125+244G>A, rs57471283, 56428779, rs1656945, 182052, NG_021140.1:g.5320=, 57471283, 1656945, NC_000003.11:g.186560782=, NC_000003.11:g.186560782G>A, NG_021140.1:g.5320G>A, NC_000003.12:g.186842993G>A, rs56428779, NM_001177800.1:c.-60+244G>A, NC_000003.12:g.186842993=, NG_044949.1:g.3084G>A, NG_044949.1:g.3084=, rs182052 +PA166154220 rs182132442 PA126 CYP2C9 NC_000010.11:94972119 4 4 4 0 0 XP_005269632.1:p.Pro279Thr, rs182132442, NG_008385.1:g.38462=, NG_008385.2:g.38962=, NG_008385.2:g.38962C>A, NP_000762.2:p.Pro279=, NP_000762.2:p.Pro279Thr, NM_000771.3:c.835C>A, NC_000010.10:g.96731876=, NC_000010.10:g.96731876C>A, NG_008385.1:g.38462C>A, XM_005269575.1:c.835C>A, 182132442, NC_000010.11:g.94972119C>A, NC_000010.11:g.94972119= +PA166157309 rs1824024 PA111 CHRM2 NC_000007.14:136958947 1 0 0 0 0 NG_011846.2:g.95296C>A, NR_046103.1:n.342-56946G>T, NM_001006630.1:c.-124-33240C>A, NC_000007.14:g.136958947C>T, NG_011846.2:g.95296C>G, NC_000007.14:g.136958947=, NM_001006626.1:c.-125+7867C>A, NM_001006628.1:c.-124-33240C>A, 1824024, rs1824024, NM_001006627.1:c.-46-55873C>A, NC_000007.13:g.136643694C>G, NG_011846.2:g.95296C>T, NC_000007.13:g.136643694C>A, NG_011846.2:g.95296=, NM_000739.2:c.-124-33240C>A, NM_001006632.1:c.-46-55873C>A, XM_005250130.1:c.-46-55873C>A, NC_000007.13:g.136643694C>T, NM_001006629.1:c.-46-55873C>A, XM_011515770.1:c.-1711C>A, rs386546073, NC_000007.14:g.136958947C>A, 10340106, rs10340106, NC_000007.13:g.136643694=, XM_011515771.1:c.-125+19762C>A, NC_000007.14:g.136958947C>G, 386546073, NM_001006631.1:c.-124-33240C>A +PA166153560 rs182455 PA35491 STMN1 NC_000001.11:25908492 1 0 0 0 0 rs35049280, NC_000001.10:g.26234983A>G, 182455, 56876055, NM_001145454.2:c.-2166T>C, rs58153054, rs56876055, NC_000001.11:g.25908492A>G, NM_005563.3:c.-2166T>C, XR_947102.1:n.1554A>G, 35049280, rs182455, NC_000001.10:g.26234983A>T, 58153054, NC_000001.11:g.25908492A>T, NC_000001.11:g.25908492=, NC_000001.10:g.26234983=, NM_203399.1:c.-1767T>C +PA166156527 rs1826909 PA24570 ADH1A NC_000004.12:99296586 1 0 0 0 0 rs4525982, 4525982, 17512416, NC_000004.12:g.99296586=, NC_000004.11:g.100217743=, rs61683245, rs1826909, 1826909, NR_037884.1:n.4161-3713C>T, rs17512416, NC_000004.12:g.99296586C>T, 61683245, NC_000004.11:g.100217743C>T +PA166155975 rs182694 PA24408 ABCG1 NC_000021.9:42278705 1 0 0 0 0 61034116, NM_207627.1:c.594+1760A>G, XM_011529806.1:c.621+1760A>G, 386546127, NC_000021.9:g.42278705A>T, 182694, NC_000021.8:g.43698815A>T, NM_004915.3:c.588+1760A>G, NC_000021.9:g.42278705=, NM_207628.1:c.522+1760A>G, rs386546127, NM_207174.1:c.621+1760A>G, XM_011529807.1:c.621+1760A>G, rs403955, XM_005261209.1:c.621+1760A>G, 690879, rs61034116, NC_000021.8:g.43698815=, NM_207629.1:c.579+1760A>G, 403955, rs182694, NC_000021.8:g.43698815A>G, NM_016818.2:c.588+1760A>G, rs690879, NC_000021.9:g.42278705A>G +PA166169895 rs1829346 NC_000003.12:116710060 2 1 0 0 0 NC_000003.12:g.116710060=, NC_000003.11:g.116428907C>A, NC_000003.12:g.116710060C>T, NC_000003.12:g.116710060C>A, NC_000003.11:g.116428907C>T, rs1829346, 1829346, NC_000003.11:g.116428907= +PA166153931 rs183105782 PA145 DPYD NC_000001.11:97595107 1 0 0 0 0 XP_005270621.1:p.Tyr304His, XP_005270619.2:p.Tyr304His, XM_006710397.2:c.910T>C, XP_005270620.1:p.Tyr304His, XM_005270561.1:c.799T>C, XP_005270619.1:p.Tyr304His, NC_000001.11:g.97595107A>G, NG_008807.2:g.330953T>C, XM_005270562.1:c.910T>C, NG_008807.2:g.330953=, XM_005270564.1:c.910T>C, rs183105782, XP_005270618.1:p.Tyr267His, 183105782, NC_000001.10:g.98060663=, XM_005270563.1:c.910T>C, NP_000101.2:p.Tyr304His, NM_000110.3:c.910T>C, NP_000101.2:p.Tyr304=, XM_005270562.3:c.910T>C, NC_000001.10:g.98060663A>G, XP_006710460.1:p.Tyr304His, NC_000001.11:g.97595107= +PA166155336 rs183205964 PA359 TYMS NC_000018.10:657657 1 1 0 0 0 NC_000018.10:g.657657=, NC_000018.9:g.657657=, NC_000018.9:g.657657G>C, XM_005258138.1:c.-86G>C, 183205964, rs183205964, NM_001071.2:c.-86G>C, NM_001012716.2:c.*34+185C>G, XM_005258137.1:c.-86G>C, NC_000018.10:g.657657G>C, NG_028255.1:g.5054=, NG_028255.1:g.5054G>C +PA166153932 rs183385770 PA145 DPYD NC_000001.11:97593322 1 0 0 1 0 NG_008807.2:g.332738G>A, XM_005270562.1:c.1024G>A, NP_000101.2:p.Asp342=, 183385770, XM_005270563.1:c.1024G>A, NG_008807.2:g.332738=, XM_005270561.1:c.913G>A, NC_000001.10:g.98058878=, rs183385770, NP_000101.2:p.Asp342Asn, XP_006710460.1:p.Asp342Asn, XP_005270619.2:p.Asp342Asn, XP_005270621.1:p.Asp342Asn, XP_005270620.1:p.Asp342Asn, XM_006710397.2:c.1024G>A, XP_005270619.1:p.Asp342Asn, NC_000001.11:g.97593322=, XM_005270562.3:c.1024G>A, NM_000110.3:c.1024G>A, XM_005270564.1:c.1024G>A, NC_000001.10:g.98058878C>T, XP_005270618.1:p.Asp305Asn, NC_000001.11:g.97593322C>T +PA166154269 rs183484 PA298 RRM1 NC_000011.10:4119902 2 1 0 0 0 XM_011520277.1:c.559C>A, NC_000011.9:g.4141132C>A, XP_005253116.1:p.Arg187=, NM_001033.3:c.850C>A, XM_011520278.1:c.184C>A, 17850105, NG_027992.2:g.30209C>A, 183484, rs2228122, 2228122, XM_005253058.1:c.607C>A, XM_011520279.1:c.-207C>A, NM_001033.4:c.850C>A, NP_001024.1:p.Arg284=, 1735058, XP_011518580.1:p.Arg62=, rs1735058, NM_001318064.1:c.559C>A, XP_011518579.1:p.Arg187=, 17210748, NC_000011.10:g.4119902C>A, XP_005253115.1:p.Arg203=, NM_001318065.1:c.-207C>A, NG_027992.2:g.30209=, NP_001304993.1:p.Arg187=, NC_000011.9:g.4141132=, rs17210748, XM_005253059.1:c.559C>A, rs183484, rs17850105, NC_000011.10:g.4119902= +PA166196162 rs1835740 NC_000008.11:97154685 1 0 0 0 0 rs1835740, 1835740, NC_000008.11:g.97154685T>C, NC_000008.10:g.98166913=, NC_000008.10:g.98166913T>C, 59199144, NC_000008.11:g.97154685=, 3931804 +PA166186020 rs183701923 PA124 CYP2C19 NC_000010.11:94780573 3 1 0 0 0 183701923, NP_000760.1:p.Arg186=, NP_000760.1:p.Arg186Cys, NC_000010.11:g.94780573C>T, NC_000010.11:g.94780573=, rs183701923, NG_008384.3:g.22893=, NG_008384.3:g.22893C>T, NC_000010.10:g.96540330C>T, NC_000010.10:g.96540330= +PA166195561 rs184199168 PA162401277 RGL4 NC_000022.11:23692424 1 1 0 0 0 NP_001316353.1:p.Leu90Gln, rs184199168, 184199168, NC_000022.10:g.24034611=, NC_000022.11:g.23692424T>A, NC_000022.11:g.23692424=, NP_001316353.1:p.Leu90=, NC_000022.10:g.24034611T>A +PA166309302 rs184278615 PA35076 HLA-DRB5 NC_000006.12:32522115 1 0 0 0 0 NC_000006.12:g.32522115G>C, NC_000006.11:g.32489892=, NC_000006.12:g.32522115G>A, NG_002392.2:g.65420G>C, 184278615, NG_002392.2:g.65420=, NG_002392.2:g.65420G>A, NP_002116.2:p.Arg54Trp, NP_002116.2:p.Arg54Gly, NP_002116.2:p.Arg54=, NC_000006.11:g.32489892G>C, NG_002432.1:g.69383G>C, NC_000006.11:g.32489892G>A, NG_002432.1:g.69383=, NC_000006.12:g.32522115=, rs184278615, NG_002432.1:g.69383G>A +PA166154520 rs1843809 PA128747823 TPH2 NC_000012.12:71954918 3 0 0 0 0 XM_005268642.1:c.626+5263G>T, NG_008279.1:g.21073G>A, NG_008279.1:g.21073=, NC_000012.12:g.71954918G>A, rs1843809, XM_011537899.1:c.14+5263G>T, NC_000012.11:g.72348698=, NC_000012.11:g.72348698G>A, 1843809, XR_245894.1:n.612+5263G>T, NC_000012.12:g.71954918=, rs61293102, NG_008279.1:g.21073G>T, NC_000012.11:g.72348698G>T, XR_245894.2:n.708+5263G>T, 61293102, NC_000012.12:g.71954918G>T, NM_173353.3:c.608+5263G>T +PA166157310 rs1851426 PA130 CYP3A4 NC_000007.14:99785313 1 0 0 0 0 NG_008421.1:g.3873=, XM_011515841.1:c.-1232T>C, XM_011515842.1:c.-1232T>C, NC_000007.14:g.99785313=, 56476282, NC_000007.13:g.99382936A>T, NM_017460.5:c.-1232T>C, NG_008421.1:g.3873T>G, NG_008421.1:g.3873T>A, NG_008421.1:g.3873T>C, NG_054901.1:g.1282A>C, NC_000007.13:g.99382936A>C, NG_054901.1:g.1282A>G, rs56476282, NC_000007.14:g.99785313A>T, NG_054901.1:g.1282A>T, rs57950778, NG_054901.1:g.1282=, NC_000007.13:g.99382936A>G, NC_000007.14:g.99785313A>G, rs1851426, 1851426, NM_001202855.2:c.-1232T>C, NC_000007.14:g.99785313A>C, 57950778, NC_000007.13:g.99382936= +PA166165352 rs185217050 PA134905581 NCOA7 NC_000006.12:125913691 1 0 0 0 0 185217050, NC_000006.12:g.125913691=, rs185217050, NC_000006.11:g.126234837T>C, NC_000006.12:g.125913691T>C, NC_000006.11:g.126234837= +PA166184677 rs1852629 PA164721033,PA31945 IPCEF1,OPRM1 NC_000006.12:154201606 1 0 0 0 0 NC_000006.12:g.154201606T>G, NC_000006.12:g.154201606T>C, NC_000006.12:g.154201606T>A, 17213305, NC_000006.11:g.154522740T>G, 61540762, NC_000006.11:g.154522740=, NC_000006.12:g.154201606=, NG_021208.2:g.196106=, NG_021208.2:g.196106T>C, NG_021208.2:g.196106T>A, NC_000006.11:g.154522740T>A, 1852629, rs1852629, NC_000006.11:g.154522740T>C, NG_021208.2:g.196106T>G +PA166165324 rs185346775 NC_000006.12:120192574 1 0 0 0 0 NC_000006.11:g.120513720=, NC_000006.11:g.120513720A>T, rs185346775, NC_000006.12:g.120192574=, NC_000006.12:g.120192574A>T, NC_000006.11:g.120513720A>G, 185346775, NC_000006.12:g.120192574A>G +PA166170356 rs185430475 PA134920047 ZNF536 NC_000019.10:30357607 1 0 0 0 0 rs185430475, NC_000019.9:g.30848514=, NC_000019.10:g.30357607=, NC_000019.10:g.30357607C>G, NC_000019.9:g.30848514C>G, 185430475 +PA166257865 rs185462714 PA38698 SERINC5 NC_000005.10:80184547 1 1 0 0 0 rs185462714, NC_000005.10:g.80184547=, NC_000005.9:g.79480369A>C, NC_000005.10:g.80184547A>C, 185462714, NC_000005.9:g.79480369= +PA166157311 rs1859168 PA165618182 HOTTIP NC_000007.14:27202740 1 0 0 0 0 60490133, NC_000007.13:g.27242359A>C, NG_008181.1:g.2367T>C, NG_008181.1:g.2367T>G, NC_000007.13:g.27242359A>G, NG_046623.1:g.4398=, NG_046623.1:g.4398A>G, rs60390513, NG_008181.2:g.2367=, XR_242057.1:n.1250+953A>C, NC_000007.14:g.27202740=, NG_046623.1:g.4398A>C, NG_008181.1:g.2367T>A, NG_008181.1:g.2367=, NG_008181.2:g.2367T>G, rs1859168, NC_000007.14:g.27202740A>T, NG_008181.2:g.2367T>C, NG_008181.2:g.2367T>A, NR_037843.3:n.2117+102A>C, 60390513, 1859168, NG_046623.1:g.4398A>T, NC_000007.14:g.27202740A>C, NC_000007.13:g.27242359A>T, rs60490133, NC_000007.14:g.27202740A>G, NC_000007.13:g.27242359= +PA166181123 rs1859204 PA26017 CACNG3 NC_000016.10:24324351 1 0 0 0 0 NC_000016.10:g.24324351=, 56753703, NC_000016.10:g.24324351T>C, NC_000016.9:g.24335672=, 17827811, rs1859204, 1859204, NC_000016.9:g.24335672T>C +PA166164957 rs186045772 PA109 CFTR NC_000007.14:117611663 1 1 0 1 3 NC_000007.14:g.117611663T>A, NC_000007.13:g.117251717T>A, NG_056128.1:g.4717T>A, NG_056128.1:g.4717=, NP_000483.3:p.Phe1074=, rs186045772, NG_056128.2:g.4717=, NG_016465.4:g.150880T>A, NP_000483.3:p.Phe1074Leu, NG_016465.4:g.150880=, NC_000007.13:g.117251717=, NC_000007.14:g.117611663=, 186045772, NG_056128.2:g.4717T>A +PA166299361 rs186089140 PA109 CFTR NC_000007.14:117592377 2 1 0 0 1 NP_000483.3:p.Ser737=, rs186089140, NC_000007.13:g.117232431=, NG_016465.4:g.131594C>T, NC_000007.13:g.117232431C>T, 186089140, NP_000483.3:p.Ser737Phe, NC_000007.14:g.117592377=, NC_000007.14:g.117592377C>T, NG_016465.4:g.131594= +PA166154521 rs1861591 PA26904 CRY1 NC_000012.12:107023149 1 0 0 0 0 NC_000012.12:g.107023149T>C, NC_000012.12:g.107023149=, NC_000012.12:g.107023149T>G, NC_000012.11:g.107416927T>G, NM_004075.4:c.159-957A>G, NC_000012.11:g.107416927T>C, NC_000012.12:g.107023149T>A, NC_000012.11:g.107416927=, NC_000012.11:g.107416927T>A, XM_011537939.1:c.75-957A>G, 59476315, rs59476315, rs1861591, 1861591 +PA166176140 rs1861647 PA310 SLC6A2 NC_000016.10:55694494 1 1 0 0 0 NC_000016.10:g.55694494G>C, NG_016969.1:g.43865G>A, NC_000016.10:g.55694494G>A, NC_000016.9:g.55728406G>C, rs1861647, 1861647, NC_000016.10:g.55694494=, NC_000016.9:g.55728406=, NG_016969.1:g.43865G>C, NC_000016.9:g.55728406G>A, NG_016969.1:g.43865= +PA166153933 rs186169810 PA145 DPYD NC_000001.11:97573785 1 0 0 1 0 XP_005270619.1:p.Phe438Leu, NG_008807.2:g.352275=, rs186169810, XM_005270561.1:c.1203T>G, XM_005270563.1:c.1314T>G, NC_000001.10:g.98039341=, XP_005270621.1:p.Phe438Leu, NC_000001.11:g.97573785A>C, XP_005270620.1:p.Phe438Leu, XP_005270618.1:p.Phe401Leu, XM_005270562.1:c.1314T>G, 186169810, NP_000101.2:p.Phe438=, NG_008807.2:g.352275T>G, NP_000101.2:p.Phe438Leu, XP_006710460.1:p.Phe438Leu, NC_000001.10:g.98039341A>C, XM_006710397.2:c.1314T>G, XM_005270564.1:c.1314T>G, NM_000110.3:c.1314T>G, NC_000001.11:g.97573785=, XM_005270562.3:c.1314T>G, XP_005270619.2:p.Phe438Leu +PA166179957 rs1862342 PA29557 HTR4 NC_000005.10:148650501 1 0 0 0 0 NC_000005.9:g.148030064C>A, 59846539, NC_000005.10:g.148650501C>G, NC_000005.9:g.148030064=, NC_000005.9:g.148030064C>G, NG_029052.1:g.8676G>T, NC_000005.10:g.148650501C>T, NG_029052.1:g.8676G>C, rs1862342, NC_000005.10:g.148650501=, NC_000005.10:g.148650501C>A, NG_029052.1:g.8676G>A, 1862342, NC_000005.9:g.148030064C>T, NG_029052.1:g.8676= +PA166170024 rs1863332 PA31133 MSH2 NC_000002.12:47402759 1 0 0 0 0 NG_007110.2:g.4636T>A, 17550731, 386546932, 59871013, NG_007110.2:g.4636T>G, NC_000002.12:g.47402759=, NC_000002.11:g.47629898T>G, NC_000002.12:g.47402759T>G, NC_000002.11:g.47629898=, NC_000002.11:g.47629898T>A, NG_007110.2:g.4636=, NC_000002.12:g.47402759T>A, 17224087, rs1863332, 1863332 +PA166154761 rs186364861 PA134963132,PA36245 NUDT15,SUCLA2 NC_000013.11:48037798 17 2 2 0 0 NP_001291674.1:p.Val18Ile, NP_060753.1:p.Val18Ile, NC_000013.10:g.48611934G>A, rs186364861, NM_018283.2:c.52G>A, NC_000013.10:g.48611934=, NM_001304745.1:c.52G>A, NG_047021.1:g.5232=, NP_060753.1:p.Val18=, 186364861, NC_000013.11:g.48037798=, NG_047021.1:g.5232G>A, NC_000013.11:g.48037798G>A, XM_005266579.1:c.-355C>T +PA166246041 rs186388618 PA24363 AADAC NC_000003.12:151827716 1 0 0 0 0 NP_001077.2:p.Arg248Ser, NC_000003.11:g.151545504=, NC_000003.11:g.151545504A>T, NC_000003.12:g.151827716A>T, 186388618, NP_001077.2:p.Arg248=, rs186388618, NC_000003.12:g.151827716= +PA166314361 rs1864183 PA134872167 ATG10 NC_000005.10:82253397 1 0 0 0 0 NC_000005.10:g.82253397=, 17856773, rs1864183, NC_000005.9:g.81549216=, 1864183, 17856117, NC_000005.9:g.81549216C>T, 57781122, NP_113670.1:p.Thr212=, NC_000005.10:g.82253397C>T, NP_113670.1:p.Thr212Met, 17246167 +PA166157572 rs1864729 NC_000008.11:97269961 1 0 0 0 0 XR_242409.1:n.471+149109C>T, NC_000008.11:g.97269961G>A, NC_000008.10:g.98282189G>A, NC_000008.11:g.97269961=, rs1864729, 1864729, NR_125390.1:n.471+149109C>T, rs60505853, NC_000008.10:g.98282189=, 60505853 +PA166208302 rs186489608 PA124 CYP2C19 NC_000010.11:94780610 1 0 0 0 0 NC_000010.10:g.96540367T>C, NC_000010.11:g.94780610T>G, NC_000010.10:g.96540367=, NP_000760.1:p.Met198Thr, NC_000010.11:g.94780610=, 186489608, NP_000760.1:p.Met198=, NG_008384.3:g.22930=, NP_000760.1:p.Met198Arg, NG_008384.3:g.22930T>G, rs186489608, NC_000010.11:g.94780610T>C, NC_000010.10:g.96540367T>G, NG_008384.3:g.22930T>C +PA166161269 rs1867283 PA31818 NTRK2 NC_000009.12:84835851 1 0 0 0 0 17388642, NC_000009.11:g.87450766=, NG_012201.2:g.172301G>C, NC_000009.12:g.84835851G>C, NG_012201.2:g.172301G>A, NC_000009.12:g.84835851=, NG_012201.2:g.172301G>T, rs1867283, NC_000009.11:g.87450766G>T, 60997775, NG_012201.2:g.172301=, 1867283, NC_000009.12:g.84835851G>T, NC_000009.12:g.84835851G>A, NC_000009.11:g.87450766G>C, NC_000009.11:g.87450766G>A +PA166176843 rs1867351 PA329 SLC22A1 NC_000006.12:160122091 2 0 0 0 0 NC_000006.12:g.160122091T>C, rs1867351, 1867351, NC_000006.12:g.160122091=, NC_000006.11:g.160543123T>C, NC_000006.11:g.160543123=, NP_003048.1:p.Ser52= +PA166154871 rs1867380 PA24927 AQP9 NC_000015.10:58184082 1 0 0 0 0 XP_005254404.1:p.Thr214Ala, 17855515, NC_000015.10:g.58184082A>T, NC_000015.9:g.58476281A>T, NG_011975.2:g.50874=, XM_005254347.1:c.640A>G, NG_011975.1:g.50874A>G, rs52835083, NC_000015.10:g.58184082A>G, NC_000015.10:g.58184082A>C, NP_066190.2:p.Thr279=, NC_000015.9:g.58476281A>G, NC_000015.10:g.58184082=, NC_000015.9:g.58476281A>C, NG_011975.2:g.50874A>C, 52835083, NG_011975.2:g.50874A>G, NM_020980.3:c.835A>G, 58016439, rs58016439, rs17848107, NP_066190.2:p.Thr279Pro, NG_011975.2:g.50874A>T, 1867380, NP_066190.2:p.Thr279Ala, 17848107, NC_000015.9:g.58476281=, rs1867380, rs17855515, NP_066190.2:p.Thr279Ser +PA166185706 rs1867785 PA27809 EPAS1 NC_000002.12:46307199 1 0 0 0 0 NC_000002.11:g.46534338A>G, NC_000002.12:g.46307199=, NC_000002.12:g.46307199A>G, 59223521, NG_016000.1:g.14798=, NG_016000.1:g.14798A>G, rs1867785, 1867785, NC_000002.11:g.46534338= +PA166283641 rs1868089 PA27809 EPAS1 NC_000002.12:46327507 1 1 0 0 0 NC_000002.11:g.46554646C>T, NC_000002.12:g.46327507C>G, NG_016000.1:g.35106C>G, 57400518, NC_000002.12:g.46327507C>A, NC_000002.11:g.46554646C>G, rs1868089, NC_000002.11:g.46554646C>A, NG_016000.1:g.35106C>T, NC_000002.11:g.46554646=, NG_016000.1:g.35106C>A, NG_016000.1:g.35106=, 1868089, NC_000002.12:g.46327507=, NC_000002.12:g.46327507C>T +PA166289421 rs1868402 PA33681 PPP3R1 NC_000002.12:68181905 1 0 0 0 0 NC_000002.12:g.68181905=, 59843944, NC_000002.11:g.68409037=, NC_000002.12:g.68181905G>A, rs1868402, NC_000002.12:g.68181905G>T, NC_000002.12:g.68181905G>C, NC_000002.11:g.68409037G>A, 1868402, NC_000002.11:g.68409037G>T, NC_000002.11:g.68409037G>C +PA166181225 rs1868790 PA134968284 ADGRL3 NC_000004.12:61828999 1 0 0 0 0 rs1868790, NC_000004.12:g.61828999T>G, NG_033950.2:g.632744=, NG_033950.2:g.632744T>A, NC_000004.11:g.62694717T>G, 1868790, NC_000004.12:g.61828999T>A, NC_000004.11:g.62694717=, NG_033950.2:g.632744T>G, NC_000004.11:g.62694717T>A, NC_000004.12:g.61828999= +PA166155650 rs1869295 PA26412 AGAP1 NC_000002.12:236086401 1 0 0 0 0 XM_005246064.1:c.1815-33791G>C, XM_006712235.2:c.2190-33791G>C, XM_005246062.1:c.1713-33791G>C, XM_006712234.2:c.2202-33791G>C, 1869295, XM_006712237.2:c.2985-33791G>C, rs1869295, XM_005246059.1:c.1968-33791G>C, XM_005246063.1:c.1815-33791G>C, XM_011510549.1:c.2763-33791G>C, XM_011510548.1:c.2838-33791G>C, XM_005246061.1:c.1713-33791G>C, XM_005246058.1:c.2127-33791G>C, NC_000002.12:g.236086401G>C, 60611118, NC_000002.12:g.236086401G>A, NG_030314.1:g.597313=, XM_011510547.1:c.2922-33791G>C, NC_000002.11:g.236995045=, NM_001037131.2:c.2115-33791G>C, NG_030314.1:g.597313G>A, rs60611118, NG_030314.1:g.597313G>C, NM_014914.4:c.1956-33791G>C, NC_000002.12:g.236086401=, NC_000002.11:g.236995045G>C, XM_005246059.3:c.1968-33791G>C, XM_005246060.1:c.1713-33791G>C, XM_006712239.2:c.2997-33791G>C, NC_000002.11:g.236995045G>A, rs3768934, 3768934 +PA166157001 rs1869641 PA33537 POU2F2 NC_000006.12:98829991 1 0 0 0 0 NC_000006.11:g.99277867C>T, rs60385622, 386547226, NC_000006.12:g.98829991=, NC_000006.11:g.99277867=, NC_000006.12:g.98829991C>T, rs1869641, 1869641, rs386547226, 60385622 +PA166177045 rs186983396 PA34896 RYR1 NC_000019.10:38442434 1 1 0 0 0 NC_000019.10:g.38442434=, NP_000531.2:p.Thr84Arg, NC_000019.9:g.38933074C>G, NG_008866.1:g.13735C>T, NC_000019.10:g.38442434C>T, NP_000531.2:p.Thr84Met, NP_000531.2:p.Thr84=, NC_000019.9:g.38933074=, NG_008866.1:g.13735=, 186983396, rs186983396, NC_000019.9:g.38933074C>T, NC_000019.10:g.38442434C>G, NG_008866.1:g.13735C>G +PA166169985 rs1870134 PA134881991,PA37413 LSM3,XPC NC_000003.12:14178523 1 0 0 0 0 NG_011763.1:g.5150=, NG_011763.1:g.5150C>G, 2228003, NC_000003.11:g.14220023G>C, 386445331, 1870134, rs1870134, NC_000003.12:g.14178523G>T, NC_000003.11:g.14220023=, NP_004619.3:p.Leu16Val, 3729589, NC_000003.11:g.14220023G>T, 58436736, NC_000003.12:g.14178523=, NP_004619.3:p.Leu16=, NP_004619.3:p.Leu16Met, NC_000003.12:g.14178523G>C, NG_011763.1:g.5150C>A +PA166156528 rs1870377 PA30086 KDR NC_000004.12:55106807 14 2 0 0 0 rs1870377, 1870377, NG_012004.1:g.23789=, NG_012004.1:g.23789A>T, NC_000004.12:g.55106807=, NC_000004.11:g.55972974=, NC_000004.11:g.55972974T>A, NP_002244.1:p.Gln472His, rs52810770, NM_002253.2:c.1416A>T, 52810770, NP_002244.1:p.Gln472=, NC_000004.12:g.55106807T>A +PA166153978 rs1871450 PA26503 CHST3 NC_000010.11:72012256 2 1 0 0 0 NC_000010.11:g.72012256G>C, NG_012635.1:g.52895G>A, NC_000010.11:g.72012256G>A, XM_011540369.1:c.*3785G>A, 56737352, NC_000010.10:g.73772014=, NG_012635.1:g.52895G>C, XM_006718075.2:c.*3785G>A, NC_000010.10:g.73772014G>T, NM_004273.4:c.*3785G>A, 1871450, rs1871450, rs56737352, NC_000010.11:g.72012256G>T, NG_012635.1:g.52895G>T, NC_000010.10:g.73772014G>A, NC_000010.11:g.72012256=, NC_000010.10:g.73772014G>C, NG_012635.1:g.52895= +PA166155651 rs1872328 PA24500 ACYP2 NC_000002.12:54168122 4 1 0 0 0 NC_000002.11:g.54395259G>A, NC_000002.12:g.54168122=, NM_138448.3:c.185+29374G>A, 1872328, rs1872328, NC_000002.12:g.54168122G>A, NC_000002.11:g.54395259= +PA166154270 rs187238 PA29802,PA36451 IL18,TEX12 NC_000011.10:112164265 2 1 0 0 0 XM_011542805.1:c.-389G>C, XM_005271612.1:c.-24-4980C>G, XM_011542806.1:c.-389G>C, NG_028143.1:g.4853G>T, NM_001562.3:c.-368G>C, 57513680, 187238, NC_000011.10:g.112164265C>A, 3740967, rs17281504, NG_028143.1:g.4853G>C, rs3740967, rs187238, NC_000011.10:g.112164265C>G, rs57513680, NM_001243211.1:c.-368G>C, 17281504, NC_000011.10:g.112164265=, NC_000011.9:g.112034988C>A, NC_000011.9:g.112034988=, NC_000011.9:g.112034988C>G, NG_028143.1:g.4853= +PA166156529 rs1875705 PA28971 GRID2 NC_000004.12:93221348 1 1 0 0 0 NC_000004.12:g.93221348=, XM_005262954.1:c.679-3266G>A, NG_034113.1:g.921950G>A, NC_000004.12:g.93221348G>A, NG_034113.1:g.921950=, rs57692118, 17420206, NM_001510.3:c.964-3266G>A, NC_000004.11:g.94142499=, XM_011531895.1:c.7-3266G>A, NC_000004.11:g.94142499G>A, rs1875705, XM_011531893.1:c.787-3266G>A, 1875705, NM_001286838.1:c.679-3266G>A, rs17420206, XM_011531894.1:c.232-3266G>A, 57692118 +PA166155193 rs1876828 PA26874 CRHR1 NC_000017.11:45834159 8 1 0 0 0 NM_001145148.1:c.1065+310C>T, NM_001145148.1:c.1065+310T>C, NC_000017.10:g.43911525=, NG_009902.1:g.54898C=, NT_167251.2:g.953992A>G, NM_001145147.1:c.987+111C>T, NM_001145147.1:c.987+111T>C, NT_167251.2:g.953992A=, NC_000017.11:g.45834159=, NM_001145146.1:c.1194+111C>T, NM_001145146.1:c.1194+111T>C, NG_009902.1:g.54898=, 117816723, NC_000017.10:g.43911525C=, NT_167251.1:g.955985A>G, NC_000017.11:g.45834159C=, NT_187663.1:g.536281C>T, NM_001256299.2:c.582+111C>T, NM_001256299.2:c.582+111T>C, rs117816723, NT_167251.1:g.955985A=, NM_001303020.1:c.804+111C>T, NM_001303020.1:c.804+111T>C, rs1876828, NC_000017.11:g.45834159C>T, NM_001303018.1:c.582+111C>T, NM_001303018.1:c.582+111T>C, 1876828, NM_004382.4:c.1107+111C>T, NM_004382.4:c.1107+111T>C, NG_009902.1:g.54898C>T, NC_000017.10:g.43911525C>T, NM_001303016.1:c.668+111C>T, NM_001303016.1:c.668+111T>C, XM_005257060.1:c.804+111C>T, XM_005257060.1:c.804+111T>C, NT_187663.1:g.536281C= +PA166155194 rs1876829 PA26874 CRHR1 NC_000017.11:45834077 1 0 0 0 0 NM_001145146.1:c.1194+29C>T, NM_001145146.1:c.1194+29T>C, NM_001145148.1:c.1065+228C>T, NM_001145148.1:c.1065+228T>C, NM_001303018.1:c.582+29C>T, NM_001303018.1:c.582+29T>C, NC_000017.11:g.45834077=, 141687854, NM_001303016.1:c.668+29T>C, NC_000017.10:g.43911443=, NC_000017.10:g.43911443T=, NG_009902.1:g.54816=, NC_000017.11:g.45834077T=, NT_167251.2:g.954074G>A, NM_001145147.1:c.987+29C>T, NM_001145147.1:c.987+29T>C, rs141687854, NT_187663.1:g.536199T>C, 111742786, NT_167251.1:g.956067G>A, NG_009902.1:g.54816T=, NT_187663.1:g.536199T=, NG_009902.1:g.54816T>C, NC_000017.10:g.43911443T>C, NM_004382.4:c.1107+29C>T, NM_004382.4:c.1107+29T>C, NM_001303016.1:c.668+29C>T, NT_167251.1:g.956067G=, NC_000017.11:g.45834077T>C, rs111742786, 1876829, rs1876829, NT_167251.2:g.954074G=, XM_005257060.1:c.804+29C>T, XM_005257060.1:c.804+29T>C, NM_001303020.1:c.804+29C>T, NM_001303020.1:c.804+29T>C, NM_001256299.2:c.582+29C>T, NM_001256299.2:c.582+29T>C +PA166155195 rs1876831 PA26874 CRHR1 NC_000017.11:45830379 1 0 0 0 0 NM_001303016.1:c.253-38C>T, NM_001303016.1:c.253-38T>C, NC_000017.10:g.43907745C>G, NC_000017.11:g.45830379C>G, NC_000017.10:g.43907745C>T, NM_001145148.1:c.556-38C>T, NM_001145148.1:c.556-38T>C, NM_001256299.2:c.31-38C>T, NM_001256299.2:c.31-38T>C, NC_000017.11:g.45830379=, rs1876831, NC_000017.11:g.45830379C=, NM_004382.4:c.556-38C>T, NM_004382.4:c.556-38T>C, XR_952503.1:n.-1108A>G, XR_952503.1:n.-1108G>A, 1876831, NM_001145146.1:c.643-38C>T, NT_167251.2:g.957803A=, NG_009902.1:g.51118C=, NM_001145146.1:c.643-38T>C, XR_951547.1:n.-1114G>A, XR_951547.1:n.-1114A>G, NM_001303018.1:c.31-38C>T, NM_001303018.1:c.31-38T>C, 118038278, NG_009902.1:g.51118=, NC_000017.11:g.45830379C>T, NT_187663.1:g.532501C=, NT_187663.1:g.532501C>T, XM_005257060.1:c.253-38C>T, XM_005257060.1:c.253-38T>C, rs118038278, NG_009902.1:g.51118C>T, NT_167251.2:g.957803A>G, NC_000017.10:g.43907745C=, NM_001145147.1:c.436-38T>C, NM_001303020.1:c.253-38C>T, NM_001303020.1:c.253-38T>C, NM_001145147.1:c.436-38C>T, NG_009902.1:g.51118C>G, XR_934792.1:n.-1108A>G, XR_934792.1:n.-1108G>A, NT_167251.1:g.959796A>G, NT_167251.1:g.959796A=, NC_000017.10:g.43907745= +PA166319422 rs187713395 PA145 DPYD NC_000001.11:97373580 1 1 0 0 0 187713395, NP_000101.2:p.Met680=, NC_000001.11:g.97373580=, NC_000001.11:g.97373580A>G, rs187713395, NC_000001.10:g.97839136=, NP_000101.2:p.Met680Thr, NC_000001.10:g.97839136A>G, NG_008807.2:g.552480=, NG_008807.2:g.552480T>C +PA166249161 rs1877193 NC_000002.12:159920677 2 0 0 0 0 rs1877193, NC_000002.11:g.160777188C>T, 1877193, NC_000002.12:g.159920677=, 58783527, NC_000002.12:g.159920677C>T, NC_000002.11:g.160777188= +PA166153656 rs1877724 PA27829 EPHX1 NC_000001.11:225825654 2 1 0 0 0 NC_000001.11:g.225825654C>T, rs3738041, NM_001136018.3:c.-5-3071C>T, 2854454, NC_000001.10:g.226013355=, 3738041, NM_001291163.1:c.-5-3071C>T, rs2854454, NG_009776.1:g.20559=, NC_000001.11:g.225825654=, NC_000001.10:g.226013355C>T, XM_005273085.1:c.-5-3071C>T, rs1877724, 1877724, NG_009776.1:g.20559C>T, rs57352464, NM_000120.3:c.-6+110C>T, 57352464 +PA166207761 rs187793133 PA126 CYP2C9 NC_000010.11:94986070 1 0 0 0 0 rs187793133, NG_008385.2:g.52913=, 187793133, NC_000010.10:g.96745827A>G, NG_008385.1:g.52413A>G, NG_008385.2:g.52913A>G, NG_008385.1:g.52413=, NC_000010.11:g.94986070A>G, NP_000762.2:p.His396Arg, NC_000010.10:g.96745827=, NC_000010.11:g.94986070=, NP_000762.2:p.His396= +PA166165328 rs187805828 PA27619 PHC1 NC_000012.12:8920655 1 0 0 0 0 NC_000012.12:g.8920655=, rs187805828, NC_000012.11:g.9073251C>T, NG_042273.1:g.10936C>T, NG_042273.1:g.10936=, NC_000012.11:g.9073251=, NC_000012.12:g.8920655C>T, 187805828 +PA166184703 rs187926838 PA24719 ALK NC_000002.12:29595425 1 0 0 0 0 187926838, NC_000002.11:g.29818291A>G, NG_009445.1:g.331142=, NC_000002.12:g.29595425A>G, rs187926838, NC_000002.12:g.29595425=, NC_000002.11:g.29818291=, NG_009445.1:g.331142T>C +PA166163208 rs187941554 PA134912253 RAD18 NC_000003.12:8945549 1 0 0 0 0 rs187941554, NC_000003.11:g.8987233=, NC_000003.11:g.8987233G>A, 187941554, NC_000003.12:g.8945549=, NC_000003.12:g.8945549G>A +PA166254923 rs188009042 PA133787052 VKORC1 NC_000016.10:31093563 1 0 0 0 0 rs188009042, NC_000016.9:g.31104884=, NG_011564.1:g.6393=, NG_011564.1:g.6393A>G, NC_000016.10:g.31093563T>C, 188009042, NC_000016.9:g.31104884T>C, NC_000016.10:g.31093563= +PA166153934 rs188052243 PA145 DPYD NC_000001.11:97098577 2 1 0 0 0 NR_046590.1:n.64+2591T>C, NG_008807.2:g.827483A>G, NP_000101.2:p.Asn893=, NP_000101.2:p.Asn893Ser, XM_005270562.3:c.2462A>G, NC_000001.11:g.97098577=, XM_005270561.1:c.2567A>G, rs188052243, NC_000001.10:g.97564133T>C, NG_008807.2:g.827483=, XM_005270562.1:c.2462A>G, XP_005270619.1:p.Asn821Ser, NC_000001.11:g.97098577T>C, XP_005270619.2:p.Asn821Ser, 188052243, NC_000001.10:g.97564133=, NM_000110.3:c.2678A>G, XP_005270618.1:p.Asn856Ser +PA166153979 rs1880676 PA26448 CHAT NC_000010.11:49616071 3 1 0 0 0 rs59491670, NP_001136405.1:p.Asp7=, NG_011797.1:g.11977=, NM_001142933.1:c.19G>A, NM_020985.3:c.-68-431G>A, 56499801, 59491670, NC_000010.10:g.50824117G>A, NM_001142934.1:c.-90G>A, NC_000010.11:g.49616071G>A, NM_020549.4:c.287-431G>A, rs1880676, NM_001142929.1:c.-68-431G>A, NM_020986.3:c.-68-431G>A, NP_001136405.1:p.Asp7Asn, 1880676, NC_000010.11:g.49616071=, NC_000010.10:g.50824117=, NG_011797.1:g.11977G>A, rs56499801, NM_020984.3:c.-68-431G>A +PA166160406 rs1882296 PA31786 NRXN1 NC_000002.12:50039707 1 0 0 0 0 rs1882296, NC_000002.11:g.50266845=, 1882296, NC_000002.12:g.50039707=, NC_000002.11:g.50266845T>C, NC_000002.12:g.50039707T>C, NG_011878.1:g.997830A>G, 60378598, NG_011878.1:g.997830= +PA166156080 rs1883112 PA31465 NCF4 NC_000022.11:36860804 10 2 0 0 0 61381844, NC_000022.10:g.37256846=, rs13055287, NC_000022.11:g.36860804=, XM_011530198.1:c.-1851G>A, NM_000631.4:c.-368G>A, NM_013416.3:c.-368G>A, 13055287, rs1883112, NG_023400.1:g.4817G>T, NC_000022.10:g.37256846G>T, NC_000022.11:g.36860804G>C, NC_000022.11:g.36860804G>A, XM_011530199.1:c.-915G>A, NG_023400.1:g.4817G>A, rs34673077, NG_023400.1:g.4817G>C, NT_187631.1:g.81598G>A, NC_000022.11:g.36860804G>T, 34673077, NC_000022.10:g.37256846G>A, 1883112, rs61381844, NC_000022.10:g.37256846G>C, NG_023400.1:g.4817= +PA166157002 rs1883306 PA33537 POU2F2 NC_000006.12:98831573 1 0 0 0 0 NC_000006.11:g.99279449A>C, rs386547868, NC_000006.12:g.98831573=, NC_000006.12:g.98831573A>C, rs1883306, 386547868, 1883306, 60441657, NC_000006.11:g.99279449=, rs60441657 +PA166157003 rs1883322 PA33557 PPARD NC_000006.12:35402029 1 1 0 0 0 XM_011514713.1:c.-101-8958C>T, NC_000006.12:g.35402029=, NG_012345.1:g.64472=, NM_001171818.1:c.-102+4436C>T, NC_000006.11:g.35369806C>G, XM_005249191.1:c.-101-8958C>T, NG_012345.2:g.64472C>T, XM_006715120.1:c.-101-8958C>T, NC_000006.11:g.35369806C>A, NG_012345.1:g.64472C>A, NC_000006.12:g.35402029C>T, NM_001171820.1:c.-101-8958C>T, NG_012345.1:g.64472C>G, XM_011514708.1:c.-101-8958C>T, XM_006715123.1:c.-101-8958C>T, NG_012345.1:g.64472C>T, NC_000006.12:g.35402029C>A, NG_012345.2:g.64472C>G, 1883322, NC_000006.12:g.35402029C>G, NG_012345.2:g.64472C>A, rs1883322, NM_006238.4:c.-101-8958C>T, XM_011514712.1:c.-101-8958C>T, rs386547869, NC_000006.11:g.35369806=, XM_005249192.1:c.-102+4436C>T, XM_011514707.1:c.-101-8958C>T, XM_011514709.1:c.-102+4436C>T, NG_012345.2:g.64472=, XM_011514711.1:c.-101-8958C>T, XM_005249193.1:c.-101-8958C>T, 386547869, NM_177435.2:c.-101-8958C>T, XM_006715121.1:c.-101-8958C>T, XM_011514710.1:c.-101-8958C>T, NC_000006.11:g.35369806C>T, NM_001171819.1:c.14-18098C>T, XM_005249194.1:c.-101-8958C>T +PA166155918 rs1884613 PA29349 HNF4A NC_000020.11:44351775 4 1 0 0 0 NC_000020.11:g.44351775=, NC_000020.10:g.42980415C>G, XR_936748.1:n.278+93G>C, NG_009818.1:g.975=, NC_000020.10:g.42980415C>A, NG_009818.1:g.975C>T, NC_000020.11:g.44351775C>T, XR_936745.1:n.486+93G>C, NC_000020.11:g.44351775C>A, NC_000020.10:g.42980415C>T, XR_936749.1:n.490+93G>C, NG_009818.1:g.975C>A, rs1884613, 1884613, NC_000020.10:g.42980415=, NC_000020.11:g.44351775C>G, NG_009818.1:g.975C>G, XR_936746.1:n.490+93G>C, XR_936747.1:n.405+93G>C, XR_936750.1:n.285+93G>C +PA166161454 rs1884725 PA37404 XDH NC_000002.12:31348920 2 0 0 0 0 NP_000370.2:p.Phe1010=, NC_000002.12:g.31348920A>C, NG_008871.1:g.70826T>G, NG_008871.2:g.70826=, NC_000002.12:g.31348920A>G, NC_000002.11:g.31571786A>T, 61644726, NG_008871.1:g.70826T>A, NC_000002.11:g.31571786=, NG_008871.1:g.70826T>C, NC_000002.12:g.31348920=, NC_000002.12:g.31348920A>T, NG_008871.1:g.70826=, rs1884725, 1884725, NC_000002.11:g.31571786A>G, NG_008871.2:g.70826T>C, NG_008871.2:g.70826T>A, NC_000002.11:g.31571786A>C, NG_008871.2:g.70826T>G, NP_000370.2:p.Phe1010Leu +PA166159125 rs1885155 NC_000014.9:95841560 1 0 0 0 0 57251345, NC_000014.8:g.96307897=, rs1885155, 1885155, NC_000014.8:g.96307897A>C, NC_000014.9:g.95841560=, NC_000014.9:g.95841560A>C +PA166153980 rs1885301 PA116 ABCC2 NC_000010.11:99781296 6 0 0 0 0 rs1885301, XM_011539291.1:c.-1549A>G, XM_005269536.1:c.-1549A>G, NG_011798.2:g.3699=, 59934936, XM_006717631.2:c.-1549A>G, 17216261, NC_000010.11:g.99781296A>G, NG_011798.1:g.3591A>G, NM_000392.4:c.-1549A>G, NC_000010.10:g.101541053A>G, XR_945605.1:n.-1358A>G, XR_945604.1:n.-1360A>G, rs59934936, NG_011798.1:g.3591=, NG_011798.2:g.3699A>G, rs17216261, NC_000010.11:g.99781296=, NC_000010.10:g.101541053=, 1885301 +PA166157004 rs1886249 NC_000006.12:121429007 1 0 0 0 0 NC_000006.12:g.121429007=, NC_000006.11:g.121750153=, 61001156, rs61001156, NC_000006.11:g.121750153A>G, NC_000006.12:g.121429007A>G, 1886249, rs1886249 +PA166153657 rs1886629 PA38726 KCNT2 NC_000001.11:196185768 1 1 0 0 0 NC_000001.11:g.196185768C>T, NC_000001.10:g.196154898C>T, NC_000001.10:g.196154898=, 1886629, NC_000001.10:g.196154898C>G, rs1886629, rs59579495, 59579495, NC_000001.11:g.196185768=, XR_922395.1:n.73+300G>A, NC_000001.11:g.196185768C>G +PA166312861 rs1890109 NC_000009.12:38643999 1 0 0 0 0 rs1890109, NC_000009.11:g.38643996=, NC_000009.12:g.38643999A>G, 1890109, NC_000009.12:g.38643999=, NC_000009.11:g.38643996A>G +PA166153658 rs1891059 NC_000001.11:213772666 1 1 0 0 0 NC_000001.11:g.213772666=, XR_922586.1:n.137-21718G>A, XR_922587.1:n.136+41108G>A, NC_000001.10:g.213946009=, NC_000001.10:g.213946009G>A, rs1891059, NC_000001.11:g.213772666G>A, 1891059 +PA166153981 rs1891311 PA29561 HTR7 NC_000010.11:90858859 1 0 0 0 0 60062136, NM_000872.4:c.-1188T>C, rs1891311, NC_000010.11:g.90858859=, NG_029218.1:g.4056=, NC_000010.10:g.92618616=, 3824740, rs3824740, NC_000010.11:g.90858859A>G, 1891311, NG_029218.1:g.4056T>C, NM_019859.3:c.-1188T>C, NC_000010.10:g.92618616A>G, rs60062136, NM_019860.3:c.-1188T>C +PA166180547 rs1891643 PA34938 SAMHD1 NC_000020.11:36941608 1 0 0 0 0 NC_000020.10:g.35570011G>T, NC_000020.11:g.36941608G>A, NC_000020.10:g.35570011=, 1891643, rs1891643, NC_000020.11:g.36941608G>T, NG_017059.1:g.15236C>T, NC_000020.11:g.36941608=, NC_000020.10:g.35570011G>A, 61254489, NG_017059.1:g.15236=, 17787024, NG_017059.1:g.15236C>A +PA166155652 rs1896832 PA143485593 RHBDD1 NC_000002.12:226807770 1 0 0 0 0 XR_923965.1:n.775+145T>C, rs60449240, 60449240, NC_000002.11:g.227672486T>C, NC_000002.12:g.226807770T>C, XR_923964.1:n.779+145T>C, NC_000002.12:g.226807770=, NC_000002.11:g.227672486=, 1896832, rs1896832 +PA166154522 rs1899663 PA162391575 HOTAIR NC_000012.12:53967210 1 0 0 0 0 1899663, rs1899663, NC_000012.11:g.54360994C>A, NC_000012.11:g.54360994=, NR_047518.1:n.299-833G>T, NC_000012.12:g.53967210C>A, NR_047517.1:n.325+59G>T, NR_003716.3:n.266+59G>T, NC_000012.12:g.53967210= +PA166155653 rs1901440 NC_000002.12:133680388 1 1 0 0 0 NC_000002.12:g.133680388C>T, NC_000002.12:g.133680388C>G, 1901440, rs1901440, NC_000002.11:g.134437959C>A, 60584215, NC_000002.11:g.134437959C>T, NC_000002.11:g.134437959=, rs60584215, NC_000002.11:g.134437959C>G, NC_000002.12:g.133680388=, NC_000002.12:g.133680388C>A +PA166153982 rs1901633 NC_000010.11:4768369 2 1 0 0 0 NC_000010.11:g.4768369=, NC_000010.10:g.4810561=, NC_000010.10:g.4810561A>T, rs17373082, rs58749271, NC_000010.11:g.4768369A>G, NC_000010.10:g.4810561A>G, XR_930599.1:n.-1817T>C, 17373082, NC_000010.11:g.4768369A>T, 1901633, rs1901633, 58749271 +PA166156530 rs1902023 PA37188 UGT2B15 NC_000004.12:68670366 18 4 1 0 0 57851547, rs52823570, NP_001067.2:p.Tyr85=, NT_167250.1:g.248671C>A, NC_000004.11:g.69536084=, 141137354, NC_000004.11:g.69536084A=, rs141137354, NT_167250.1:g.248671C=, NC_000004.11:g.69536084A>C, NT_167250.2:g.246721C=, NG_052676.1:g.5411=, NM_001076.3:c.253T=, 52823570, NC_000004.12:g.68670366A=, NP_001067.2:p.Tyr85Asp, NM_001076.3:c.253T>G, rs1902023, 1902023, NT_167250.2:g.246721C>A, NC_000004.12:g.68670366A>C, NG_052676.1:g.5411T>G, rs57851547, NC_000004.12:g.68670366= +PA166185919 rs190347120 PA28707 GLA NC_000023.11:101398796 1 1 0 0 0 NC_000023.11:g.101398796C>A, NP_000160.1:p.Asp264Asn, 190347120, NG_007119.1:g.14168G>A, NC_000023.11:g.101398796=, NC_000023.10:g.100653784C>A, NC_000023.11:g.101398796C>T, NP_000160.1:p.Asp264=, NP_000160.1:p.Asp264Tyr, NG_007119.1:g.14168=, NC_000023.10:g.100653784=, NG_007119.1:g.14168G>T, rs190347120, NC_000023.10:g.100653784C>T +PA166153935 rs190577302 PA145 DPYD NC_000001.11:97593292 1 0 0 0 0 NG_008807.2:g.332768=, XP_005270620.1:p.Leu352Val, NC_000001.11:g.97593292G>C, NC_000001.10:g.98058848=, rs190577302, XP_005270619.1:p.Leu352Val, XP_005270619.2:p.Leu352Val, NC_000001.11:g.97593292=, NG_008807.2:g.332768C>G, XP_005270618.1:p.Leu315Val, NP_000101.2:p.Leu352=, 190577302, XM_005270562.3:c.1054C>G, NM_000110.3:c.1054C>G, XM_005270561.1:c.943C>G, XM_005270564.1:c.1054C>G, XM_006710397.2:c.1054C>G, XP_005270621.1:p.Leu352Val, XM_005270562.1:c.1054C>G, XM_005270563.1:c.1054C>G, NC_000001.10:g.98058848G>C, XP_006710460.1:p.Leu352Val, NP_000101.2:p.Leu352Val +PA166159995 rs1907637 PA134884590 MED12L NC_000003.12:151387050 1 0 0 0 0 57620039, NG_021244.1:g.305163A>G, NC_000003.12:g.151387050A>G, 1907637, NC_000003.11:g.151104838A>G, NC_000003.11:g.151104838=, NG_016019.1:g.2707T>C, NC_000003.12:g.151387050=, rs1907637, NG_016019.1:g.2707=, NG_021244.1:g.305163= +PA166165043 rs1908557 NC_000004.12:89500202 1 0 0 0 0 60794217, rs1908557, 1908557, NC_000004.11:g.90421353=, NC_000004.12:g.89500202=, NC_000004.11:g.90421353T>C, NC_000004.12:g.89500202T>C +PA166159785 rs190951787 PA145 DPYD NC_000001.11:97515889 1 0 0 1 0 NC_000001.11:g.97515889=, NG_008807.2:g.410171C>A, 190951787, NC_000001.11:g.97515889G>T, rs190951787, NC_000001.10:g.97981445G>C, NP_000101.2:p.Thr526Ser, NP_000101.2:p.Thr526=, NG_008807.2:g.410171=, NP_000101.2:p.Thr526Asn, NC_000001.10:g.97981445=, NC_000001.11:g.97515889G>C, NG_008807.2:g.410171C>G, NC_000001.10:g.97981445G>T +PA166156335 rs1910236 NC_000003.12:59448694 1 0 0 0 0 rs17271954, XR_940882.1:n.376+87150G>A, XR_940883.1:n.437+87150G>A, rs61101344, NC_000003.12:g.59448694G>C, 1910236, NC_000003.11:g.59434420G>A, rs1910236, NC_000003.12:g.59448694G>A, 17271954, NC_000003.11:g.59434420G>C, 61101344, NC_000003.11:g.59434420=, NC_000003.12:g.59448694= +PA166162749 rs191190 PA142672636 AGBL4 NC_000001.11:48608973 1 0 0 0 0 NC_000001.10:g.49074645C>G, NC_000001.10:g.49074645C>T, NC_000001.11:g.48608973C>T, NC_000001.11:g.48608973C>G, NC_000001.10:g.49074645=, 191190, rs191190, NC_000001.11:g.48608973= +PA166160194 rs1912151 PA26874 CRHR1 NC_000017.11:45825578 1 0 0 0 0 112328245, rs1912151, NC_000017.10:g.43902944C>T, NG_009902.1:g.46317C>T, NC_000017.11:g.45825578=, 1912151, 182882161, 17763014, NC_000017.11:g.45825578C>T, NC_000017.10:g.43902944=, NG_009902.1:g.46317= +PA166159087 rs1913896 PA33640 PPP1R1C NC_000002.12:182047269 1 0 0 0 0 NC_000002.11:g.182911996=, NC_000002.12:g.182047269C>T, 60003962, NC_000002.11:g.182911996C>T, NC_000002.12:g.182047269=, rs1913896, 1913896 +PA166153983 rs1917818 PA26448 CHAT NC_000010.11:49641296 1 0 0 0 0 NC_000010.11:g.49641296T>A, NM_001142933.1:c.866-5209T>G, NM_020985.3:c.758-5209T>G, NC_000010.10:g.50849342T>G, NM_001142929.1:c.758-5209T>G, NG_011797.1:g.37202T>G, 52822860, NM_020549.4:c.1112-5209T>G, 59761396, NC_000010.11:g.49641296=, 1917818, rs1917818, NG_011797.1:g.37202T>A, NM_020984.3:c.758-5209T>G, NC_000010.10:g.50849342=, rs52822860, NG_011797.1:g.37202=, NC_000010.11:g.49641296T>G, NC_000010.10:g.50849342T>A, NM_001142934.1:c.758-5209T>G, rs59761396, NM_020986.3:c.758-5209T>G +PA166165356 rs191934521 PA34006 SIRPA NC_000020.11:1908670 1 0 0 0 0 NC_000020.11:g.1908670G>T, NC_000020.10:g.1889316G>A, NC_000020.11:g.1908670=, 191934521, rs191934521, NC_000020.11:g.1908670G>A, NC_000020.10:g.1889316=, NC_000020.10:g.1889316G>T +PA166153659 rs1920145 NC_000001.11:171076659 1 0 0 0 0 1920145, NC_000001.10:g.171045800T>C, rs56678608, NC_000001.11:g.171076659T>G, NC_000001.10:g.171045800T>A, NC_000001.11:g.171076659T>C, rs1920145, NC_000001.11:g.171076659=, NC_000001.11:g.171076659T>A, 56678608, NC_000001.10:g.171045800T>G, NC_000001.10:g.171045800= +PA166154222 rs192154563 PA124 CYP2C19 NC_000010.11:94852765 10 2 2 0 0 NM_000769.1:c.1324C>T, NG_008384.3:g.95085C>T, rs192154563, NC_000010.11:g.94852765C>G, NG_008384.3:g.95085=, NG_008384.2:g.95060C>G, NC_000010.10:g.96612522C>G, NM_000769.1:c.1324C>G, NC_000010.11:g.94852765C>T, NM_000769.2:c.1324C>G, NC_000010.11:g.94852765=, NC_000010.10:g.96612522=, NP_000760.1:p.Arg442Cys, 192154563, NC_000010.10:g.96612522C>T, NP_000760.1:p.Arg442=, NP_000760.1:p.Arg442Gly, NG_008384.3:g.95085C>G, NG_008384.2:g.95060C>T, NM_000769.2:c.1324C>T +PA166157312 rs1922242 PA267 ABCB1 NC_000007.14:87544351 2 1 0 0 0 NC_000007.13:g.87173667A>T, 1922242, NC_000007.14:g.87544351A>C, NG_011513.1:g.173898=, NC_000007.13:g.87173667=, rs1922242, NM_000927.4:c.2065-76T>A, 57409600, NG_011513.1:g.173898T>G, NG_011513.1:g.173898T>A, NC_000007.13:g.87173667A>C, NC_000007.14:g.87544351A>T, NC_000007.14:g.87544351=, rs57409600 +PA166170595 rs192427471 NC_000004.12:124644124 1 0 0 0 0 rs192427471, 192427471, NC_000004.12:g.124644124C>T, NC_000004.12:g.124644124=, NC_000004.11:g.125565279C>T, NC_000004.11:g.125565279= +PA166184702 rs192543598 NC_000006.12:29963568 1 0 0 0 0 NC_000006.11:g.29931345=, 192543598, NC_000006.12:g.29963568=, rs192543598, NC_000006.11:g.29931345A>G, NC_000006.12:g.29963568A>G +PA166223021 rs192613545 PA145148084 SH2B1 NC_000016.10:28852580 1 0 0 0 0 NG_029706.2:g.10981=, NG_029706.2:g.10981T>G, NC_000016.10:g.28852580T>A, NC_000016.10:g.28852580=, NC_000016.9:g.28863901=, NC_000016.9:g.28863901T>G, 192613545, NC_000016.10:g.28852580T>G, NC_000016.9:g.28863901T>A, rs192613545, NG_029706.2:g.10981T>A +PA166157738 rs1927907 PA36552 TLR4 NC_000009.12:117710486 2 1 0 0 0 NM_138557.2:c.-340-1903C>T, rs1927907, NG_011475.1:g.11305=, 1927907, NC_000009.11:g.120472764=, NC_000009.12:g.117710486C>T, NC_000009.12:g.117710486=, NM_003266.3:c.140+1757C>T, XM_005252182.1:c.254+1757C>T, NC_000009.11:g.120472764C>T, NG_011475.1:g.11305C>T, NM_138554.4:c.260+1757C>T, NM_138554.3:c.260+1757C>T +PA166230701 rs1927911 PA36552 TLR4 NC_000009.12:117707776 1 0 0 0 0 NG_011475.1:g.8595A>C, NC_000009.12:g.117707776A>G, NC_000009.12:g.117707776=, NC_000009.11:g.120470054A>C, NC_000009.11:g.120470054A>G, NG_011475.1:g.8595A>G, NC_000009.12:g.117707776A>T, 386549387, 60903652, NC_000009.11:g.120470054=, NG_011475.1:g.8595=, rs1927911, 1927911, NC_000009.12:g.117707776A>C, NC_000009.11:g.120470054A>T, NG_011475.1:g.8595A>T +PA166154704 rs1928040 PA193 HTR2A NC_000013.11:46873101 1 0 0 0 0 NC_000013.10:g.47447236G>C, NG_013011.1:g.28934C>G, NC_000013.10:g.47447236G>A, 59209001, 60054597, rs17288206, NG_013011.1:g.28934C>T, rs1928040, 1928040, NC_000013.11:g.46873101G>A, NC_000013.11:g.46873101G>C, NC_000013.11:g.46873101=, NM_001165947.2:c.361+19289C>T, rs60054597, NG_013011.1:g.28934=, NM_000621.4:c.613+19289C>T, NC_000013.10:g.47447236=, 17288206, rs59209001 +PA166276186 rs192863857 PA34896 RYR1 NC_000019.10:38485972 1 0 0 0 0 NC_000019.9:g.38976612=, NP_000531.2:p.Pro1773Ser, NC_000019.10:g.38485972=, NC_000019.10:g.38485972C>G, NG_008866.1:g.57273C>T, rs192863857, NC_000019.9:g.38976612C>G, NC_000019.10:g.38485972C>T, NP_000531.2:p.Pro1773=, NC_000019.9:g.38976612C>T, NP_000531.2:p.Pro1773Ala, 192863857, NG_008866.1:g.57273C>G, NG_008866.1:g.57273= +PA166251207 rs1931013246 PA128 CYP2D6 NC_000022.11:42126956 3 2 2 0 0 1931013246, NC_000022.11:g.42126956T>G, NC_000022.11:g.42126956=, NG_008376.4:g.8855=, NC_000022.10:g.42522958=, rs1931013246, NP_000097.3:p.Lys404=, NC_000022.10:g.42522958T>G, NG_008376.4:g.8855A>C, NP_000097.3:p.Lys404Gln +PA166153984 rs1931704 NC_000010.11:127541545 1 0 0 0 0 NC_000010.11:g.127541545G>A, 59084502, rs59084502, NC_000010.10:g.129339809G>A, NC_000010.10:g.129339809=, 1931704, NC_000010.11:g.127541545=, rs1931704 +PA166154705 rs1933437 PA28181 FLT3 NC_000013.11:28050157 7 1 0 0 0 57444997, NM_004119.2:c.680C>T, XM_011535017.1:c.155C>T, NP_004110.2:p.Thr227=, NR_130706.1:n.762C>T, XP_011533320.1:p.Thr52Met, XM_011535018.1:c.155C>T, XP_011533319.1:p.Thr52Met, 52828701, XP_005266376.1:p.Thr227Met, XM_011535015.1:c.623C>T, XP_011533318.1:p.Thr52Met, NC_000013.10:g.28624294G>A, XM_005266319.1:c.680C>T, rs52828701, 1933437, NC_000013.11:g.28050157=, NC_000013.11:g.28050157G>A, NG_007066.1:g.55412C>T, rs1933437, XP_005266375.1:p.Thr227Met, XP_011533317.1:p.Thr208Met, XM_005266318.1:c.680C>T, NP_004110.2:p.Thr227Met, XM_011535016.1:c.155C>T, NG_007066.1:g.55412=, NC_000013.10:g.28624294=, rs57444997 +PA166170371 rs1933695 PA34372 RGS2 NC_000001.11:192795690 1 0 0 0 0 NC_000001.11:g.192795690G>A, 59323896, rs1933695, 1933695, NC_000001.11:g.192795690=, NC_000001.10:g.192764820=, 17646988, 52805829, NC_000001.10:g.192764820G>A +PA166182332 rs1934341 PA134968998 GREM2 NC_000001.11:240558252 1 1 0 0 0 NG_053136.1:g.59121=, NC_000001.11:g.240558252C>T, 57887686, NC_000001.11:g.240558252=, NC_000001.10:g.240721552C>T, NC_000001.11:g.240558252C>G, NC_000001.10:g.240721552=, rs1934341, 1934341, 52819282, NG_053136.1:g.59121G>A, NG_053136.1:g.59121G>C, NC_000001.10:g.240721552C>G +PA166153985 rs1934951 PA125 CYP2C8 NC_000010.11:95038791 6 2 0 0 0 NC_000010.11:g.95038791=, NG_007972.1:g.35707G>A, 60958510, NC_000010.11:g.95038791C>T, NM_001198853.1:c.1081+106G>A, XR_246073.1:n.1426+106G>A, NG_007972.1:g.35707=, NM_001198855.1:c.1081+106G>A, 1934951, NC_000010.10:g.96798548=, XR_945610.1:n.1426+106G>A, rs60958510, rs1934951, NC_000010.10:g.96798548C>T, NM_001198854.1:c.985+106G>A, NM_000770.3:c.1291+106G>A +PA166316841 rs1934968 PA126 CYP2C9 NC_000010.11:94982060 1 0 0 0 0 4543911, NC_000010.10:g.96741817=, NG_008385.2:g.48903A>C, NG_008385.2:g.48903A>G, NC_000010.11:g.94982060A>G, NC_000010.10:g.96741817A>G, rs1934968, NC_000010.11:g.94982060=, NC_000010.11:g.94982060A>C, 1934968, NC_000010.10:g.96741817A>C, NG_008385.2:g.48903= +PA166153986 rs1934969 PA126 CYP2C9 NC_000010.11:94988738 3 2 0 0 0 rs17522303, NG_008385.1:g.55081=, NM_000771.3:c.1292-109A>T, NC_000010.10:g.96748495=, rs59299689, NC_000010.11:g.94988738=, NC_000010.11:g.94988738A>T, NG_008385.2:g.55581=, rs1934969, 1934969, XM_005269575.1:c.1275-728A>T, NG_008385.1:g.55081A>T, 59299689, NC_000010.10:g.96748495A>T, NG_008385.2:g.55581A>T, 17522303 +PA166153987 rs1934980 PA125 CYP2C8 NC_000010.11:95049216 2 0 0 0 0 rs4630230, NC_000010.11:g.95049216A>G, NC_000010.10:g.96808973A>G, NG_007972.1:g.25282T>A, NG_007972.1:g.25282T>C, 17558365, NM_001198853.1:c.610-3265T>C, rs11572137, rs59199142, NC_000010.11:g.95049216A>T, NM_000770.3:c.820-3265T>C, NC_000010.11:g.95049216=, NC_000010.10:g.96808973=, XR_945610.1:n.916-3265T>C, NG_007972.1:g.25282=, 4630230, 59199142, 11572137, 1934980, NM_001198854.1:c.514-3265T>C, XR_246073.1:n.916-3265T>C, NC_000010.10:g.96808973A>T, rs17558365, rs1934980, NM_001198855.1:c.610-3265T>C +PA166153988 rs1935349 PA29561 HTR7 NC_000010.11:90834586 1 1 0 0 0 NG_029218.1:g.28329G>A, NC_000010.10:g.92594343=, 60894291, NC_000010.11:g.90834586C>T, NM_000872.4:c.539+22547G>A, NM_019859.3:c.539+22547G>A, NC_000010.11:g.90834586=, rs1935349, 1935349, NM_019860.3:c.539+22547G>A, rs60894291, NC_000010.10:g.92594343C>T, NG_029218.1:g.28329= +PA166153989 rs1937840 PA24679 AKR1C3 NC_000010.11:5099115 3 2 0 0 0 NC_000010.11:g.5099115C>T, NM_003739.5:c.448-212C>G, NC_000010.10:g.5141307C>A, rs17305068, XM_005252637.1:c.379-212C>G, NG_047094.1:g.55350C>A, NG_047094.1:g.55350C>G, NC_000010.10:g.5141307C>G, NM_001253908.1:c.448-212C>G, NC_000010.11:g.5099115=, NC_000010.10:g.5141307C>T, NG_047094.1:g.55350=, NC_000010.11:g.5099115C>A, NC_000010.10:g.5141307=, 17305068, NC_000010.11:g.5099115C>G, 1937840, XM_005277677.1:c.379-212C>G, NG_047094.1:g.55350C>T, rs1937840 +PA166157534 rs193922525 PA109 CFTR NC_000007.14:117664770 2 1 1 1 4 NM_000492.3:c.4046G>A, rs193922525, NG_016465.4:g.203987=, NC_000007.14:g.117664770G>A, NG_016465.4:g.203987G>A, XP_011514055.1:p.Gly1268Asp, XP_011514053.1:p.Gly1379Asp, NC_000007.14:g.117664770=, NP_000483.3:p.Gly1349=, NC_000007.13:g.117304824=, XM_011515754.1:c.3803G>A, XP_011514054.1:p.Gly1379Asp, NP_000483.3:p.Gly1349Asp, NC_000007.13:g.117304824G>A, XM_011515751.1:c.4136G>A, XM_011515753.1:c.3803G>A, XM_011515752.1:c.4136G>A, 193922525, XP_011514056.1:p.Gly1268Asp +PA166155564 rs193922747 PA34896 RYR1 NC_000019.10:38440802 6 1 0 1 0 rs193922747, NC_000019.9:g.38931442=, NC_000019.10:g.38440802T>C, XM_011527204.1:c.103T>C, NP_000531.2:p.Cys35=, NC_000019.10:g.38440802=, XM_006723319.1:c.103T>C, XP_006723382.1:p.Cys35Arg, XP_006723380.1:p.Cys35Arg, XP_011525507.1:p.Cys35Arg, XM_011527205.1:c.103T>C, XP_011525506.1:p.Cys35Arg, XM_006723317.1:c.103T>C, NC_000019.9:g.38931442T>C, NP_000531.2:p.Cys35Arg, NG_008866.1:g.12103T>C, NP_001036188.1:p.Cys35Arg, NM_001042723.1:c.103T>C, NG_008866.1:g.12103=, 193922747, NM_000540.2:c.103T>C +PA166180322 rs193922748 PA34896 RYR1 NC_000019.10:38440829 2 1 0 1 0 NC_000019.10:g.38440829C>T, NG_008866.1:g.12130=, NG_008866.1:g.12130C>T, rs193922748, NP_000531.2:p.Arg44Cys, NP_000531.2:p.Arg44=, 193922748, NC_000019.10:g.38440829=, NC_000019.9:g.38931469=, NC_000019.9:g.38931469C>T +PA166183378 rs193922752 PA34896 RYR1 NC_000019.10:38444203 1 0 0 0 0 NC_000019.10:g.38444203A>G, NC_000019.9:g.38934843A>G, NG_008866.1:g.15504A>G, NC_000019.10:g.38444203A>C, NC_000019.9:g.38934843A>C, NG_008866.1:g.15504=, NG_008866.1:g.15504A>C, rs193922752, 193922752, NC_000019.9:g.38934843=, NC_000019.10:g.38444203=, NP_000531.2:p.Glu160=, NP_000531.2:p.Glu160Ala, NP_000531.2:p.Glu160Gly +PA166155565 rs193922753 PA34896 RYR1 NC_000019.10:38444212 4 1 0 1 0 XM_006723317.1:c.488G>T, XP_011525507.1:p.Arg163His, NM_000540.2:c.488G>T, XP_006723382.1:p.Arg163His, XM_006723319.1:c.488G>A, XP_011525507.1:p.Arg163Leu, XP_006723380.1:p.Arg163His, XM_011527205.1:c.488G>A, XP_006723382.1:p.Arg163Leu, XM_006723317.1:c.488G>A, NP_000531.2:p.Arg163=, XP_006723380.1:p.Arg163Leu, XM_011527204.1:c.488G>T, NM_001042723.1:c.488G>T, NG_008866.1:g.15513G>T, NP_001036188.1:p.Arg163His, XM_006723319.1:c.488G>T, NC_000019.9:g.38934852=, NP_000531.2:p.Arg163Leu, XP_011525506.1:p.Arg163Leu, XM_011527204.1:c.488G>A, NG_008866.1:g.15513=, NC_000019.10:g.38444212G>A, XP_011525506.1:p.Arg163His, NP_001036188.1:p.Arg163Leu, rs193922753, NC_000019.9:g.38934852G>T, XM_011527205.1:c.488G>T, NM_001042723.1:c.488G>A, 193922753, NC_000019.9:g.38934852G>A, NG_008866.1:g.15513G>A, NP_000531.2:p.Arg163His, NC_000019.10:g.38444212=, NC_000019.10:g.38444212G>T, NM_000540.2:c.488G>A +PA166180323 rs193922762 PA34896 RYR1 NC_000019.10:38448673 1 1 0 1 0 NP_000531.2:p.Arg328=, NG_008866.1:g.19974=, NC_000019.10:g.38448673=, NC_000019.9:g.38939313C>T, NC_000019.10:g.38448673C>A, NG_008866.1:g.19974C>A, rs193922762, 193922762, NC_000019.9:g.38939313=, NC_000019.9:g.38939313C>A, NG_008866.1:g.19974C>T, NC_000019.10:g.38448673C>T, NP_000531.2:p.Arg328Trp +PA166176176 rs193922764 PA34896 RYR1 NC_000019.10:38451842 4 1 1 1 0 NC_000019.9:g.38942482=, NP_000531.2:p.Arg401=, NC_000019.10:g.38451842C>T, NG_008866.1:g.23143C>T, NC_000019.9:g.38942482C>G, rs193922764, 193922764, NP_000531.2:p.Arg401Cys, NC_000019.10:g.38451842C>A, NP_000531.2:p.Arg401Gly, NC_000019.9:g.38942482C>T, NC_000019.10:g.38451842C>G, NG_008866.1:g.23143=, NG_008866.1:g.23143C>G, 193922765, NC_000019.10:g.38451842= +PA166155566 rs193922767 PA34896 RYR1 NC_000019.10:38452996 1 0 0 0 0 XP_011525507.1:p.Gln474His, rs193922767, XP_006723380.1:p.Gln474His, XP_011525506.1:p.Gln473His, NM_001042723.1:c.1422G>T, NP_000531.2:p.Gln474His, NC_000019.9:g.38943636G>A, NG_008866.1:g.24297=, NG_008866.1:g.24297G>T, NC_000019.10:g.38452996=, NC_000019.10:g.38452996G>T, XM_011527204.1:c.1419G>T, NP_001036188.1:p.Gln474His, XM_011527205.1:c.1422G>T, NM_000540.2:c.1422G>T, XM_006723317.1:c.1422G>T, NP_000531.2:p.Gln474=, XP_006723382.1:p.Gln474His, NC_000019.9:g.38943636G>T, NC_000019.9:g.38943636=, NC_000019.10:g.38452996G>A, XM_006723319.1:c.1422G>T, 193922767, NG_008866.1:g.24297G>A +PA166180324 rs193922768 PA34896 RYR1 NC_000019.10:38455471 2 1 0 1 0 rs193922768, NG_008866.1:g.26772C>T, NP_000531.2:p.Arg533=, NC_000019.10:g.38455471C>G, NC_000019.9:g.38946111=, NC_000019.9:g.38946111C>T, NG_008866.1:g.26772=, NC_000019.10:g.38455471C>A, NC_000019.9:g.38946111C>A, NC_000019.10:g.38455471=, NG_008866.1:g.26772C>A, NP_000531.2:p.Arg533Cys, NG_008866.1:g.26772C>G, NP_000531.2:p.Arg533Ser, NP_000531.2:p.Arg533Gly, NC_000019.9:g.38946111C>G, NC_000019.10:g.38455471C>T, 193922768 +PA166155567 rs193922770 PA34896 RYR1 NC_000019.10:38455528 7 1 0 1 0 XP_006723382.1:p.Arg552Trp, XM_011527204.1:c.1651C>T, NC_000019.10:g.38455528=, NM_001042723.1:c.1654C>T, NG_008866.1:g.26829C>T, NP_000531.2:p.Arg552=, NC_000019.10:g.38455528C>T, NM_000540.2:c.1654C>T, XM_011527205.1:c.1654C>T, rs193922770, XM_006723317.1:c.1654C>T, XP_006723380.1:p.Arg552Trp, XP_011525506.1:p.Arg551Trp, NC_000019.9:g.38946168=, XM_006723319.1:c.1654C>T, NG_008866.1:g.26829=, 193922770, XP_011525507.1:p.Arg552Trp, NP_000531.2:p.Arg552Trp, NC_000019.9:g.38946168C>T, NP_001036188.1:p.Arg552Trp +PA166155568 rs193922772 PA34896 RYR1 NC_000019.10:38457546 11 1 1 1 0 NP_001036188.1:p.Arg614His, XM_006723317.1:c.1841G>T, XM_011527205.1:c.1841G>T, NG_008866.1:g.28847=, XP_011525507.1:p.Arg614Leu, NP_000531.2:p.Arg614His, NC_000019.9:g.38948186G>T, XP_006723382.1:p.Arg614Leu, XM_006723319.1:c.1841G>T, XP_011525506.1:p.Arg613Leu, XP_006723380.1:p.Arg614Leu, NP_000531.2:p.Arg614=, NC_000019.9:g.38948186=, NM_001042723.1:c.1841G>T, XM_011527204.1:c.1838G>A, NG_008866.1:g.28847G>A, NC_000019.10:g.38457546=, NC_000019.10:g.38457546G>T, NP_001036188.1:p.Arg614Leu, XP_011525506.1:p.Arg613His, XM_011527205.1:c.1841G>A, XP_011525507.1:p.Arg614His, NC_000019.9:g.38948186G>A, rs193922772, NM_000540.2:c.1841G>T, NM_000540.2:c.1841G>A, 193922772, NC_000019.10:g.38457546G>A, NP_000531.2:p.Arg614Leu, XM_006723317.1:c.1841G>A, XP_006723380.1:p.Arg614His, NM_001042723.1:c.1841G>A, XM_011527204.1:c.1838G>T, NG_008866.1:g.28847G>T, XP_006723382.1:p.Arg614His, XM_006723319.1:c.1841G>A +PA166155569 rs193922802 PA34896 RYR1 NC_000019.10:38499655 11 1 1 1 0 rs193922802, NC_000019.10:g.38499655G>A, NP_001036188.1:p.Ala2350Thr, XP_006723382.1:p.Ala2350Thr, XM_011527204.1:c.7045G>A, NC_000019.10:g.38499655=, XP_011525506.1:p.Ala2349Thr, XP_006723380.1:p.Ala2350Thr, XP_011525507.1:p.Ala2350Thr, NG_008866.1:g.70956=, NM_001042723.1:c.7048G>A, NG_008866.1:g.70956G>A, XM_006723317.1:c.7048G>A, NM_000540.2:c.7048G>A, XM_006723319.1:c.7048G>A, XM_011527205.1:c.7048G>A, 193922802, NP_000531.2:p.Ala2350=, NC_000019.9:g.38990295G>A, NP_000531.2:p.Ala2350Thr, NC_000019.9:g.38990295= +PA166155570 rs193922803 PA34896 RYR1 NC_000019.10:38499670 8 1 0 1 0 XP_011525507.1:p.Arg2355Trp, NC_000019.10:g.38499670=, NG_008866.1:g.70971=, NC_000019.10:g.38499670C>T, rs193922803, XM_006723317.1:c.7063C>T, NP_000531.2:p.Arg2355Trp, NC_000019.9:g.38990310C>T, NM_000540.2:c.7063C>T, NP_001036188.1:p.Arg2355Trp, XM_011527205.1:c.7063C>T, XP_006723382.1:p.Arg2355Trp, XP_011525506.1:p.Arg2354Trp, XM_011527204.1:c.7060C>T, XP_006723380.1:p.Arg2355Trp, XM_006723319.1:c.7063C>T, NC_000019.9:g.38990310=, 193922803, NG_008866.1:g.70971C>T, NP_000531.2:p.Arg2355=, NM_001042723.1:c.7063C>T +PA166155571 rs193922807 PA34896 RYR1 NC_000019.10:38499731 2 1 1 1 0 NM_000540.2:c.7124G>C, XM_011527205.1:c.7124G>C, XM_006723317.1:c.7124G>C, NP_000531.2:p.Gly2375Ala, 193922807, NC_000019.10:g.38499731=, NM_001042723.1:c.7124G>C, NG_008866.1:g.71032=, NC_000019.9:g.38990371G>C, NG_008866.1:g.71032G>C, XP_011525506.1:p.Gly2374Ala, NC_000019.10:g.38499731G>C, NP_001036188.1:p.Gly2375Ala, XM_006723319.1:c.7124G>C, XP_006723382.1:p.Gly2375Ala, XP_011525507.1:p.Gly2375Ala, rs193922807, XM_011527204.1:c.7121G>C, XP_006723380.1:p.Gly2375Ala, NP_000531.2:p.Gly2375=, NC_000019.9:g.38990371= +PA166155572 rs193922809 PA34896 RYR1 NC_000019.10:38499975 3 1 0 1 0 XM_011527204.1:c.7279G>A, NC_000019.9:g.38990615=, XP_011525507.1:p.Ala2428Thr, 193922809, NM_001042723.1:c.7282G>A, XM_006723317.1:c.7282G>A, NG_008866.1:g.71276G>A, NC_000019.10:g.38499975G>A, XM_006723319.1:c.7282G>A, XM_011527205.1:c.7282G>A, NM_000540.2:c.7282G>A, XP_006723380.1:p.Ala2428Thr, XP_011525506.1:p.Ala2427Thr, NG_008866.1:g.71276=, NC_000019.9:g.38990615G>A, XP_006723382.1:p.Ala2428Thr, NP_000531.2:p.Ala2428=, NP_000531.2:p.Ala2428Thr, NC_000019.10:g.38499975=, rs193922809, NP_001036188.1:p.Ala2428Thr +PA166155573 rs193922816 PA34896 RYR1 NC_000019.10:38500642 10 1 1 1 0 NC_000019.10:g.38500642C>T, NC_000019.9:g.38991282C>T, rs193922816, XP_006723382.1:p.Arg2454Cys, NP_001036188.1:p.Arg2454Cys, NP_000531.2:p.Arg2454Cys, NC_000019.9:g.38991282=, XM_006723317.1:c.7360C>T, NC_000019.10:g.38500642=, NM_000540.2:c.7360C>T, XP_006723380.1:p.Arg2454Cys, XP_011525506.1:p.Arg2453Cys, XM_006723319.1:c.7360C>T, XM_011527205.1:c.7360C>T, XP_011525507.1:p.Arg2454Cys, 193922816, NG_008866.1:g.71943=, NG_008866.1:g.71943C>T, NM_001042723.1:c.7360C>T, NP_000531.2:p.Arg2454=, XM_011527204.1:c.7357C>T +PA166155574 rs193922818 PA34896 RYR1 NC_000019.10:38500899 9 1 1 1 0 XM_006723319.1:c.7523G>A, NP_000531.2:p.Arg2508His, XP_006723382.1:p.Arg2508His, XM_006723317.1:c.7523G>A, NC_000019.9:g.38991539G>A, NG_008866.1:g.72200=, NP_001036188.1:p.Arg2508His, 193922818, NM_000540.2:c.7523G>A, XM_011527205.1:c.7523G>A, NG_008866.1:g.72200G>A, NC_000019.10:g.38500899=, XM_011527204.1:c.7520G>A, XP_011525506.1:p.Arg2507His, NM_001042723.1:c.7523G>A, NP_000531.2:p.Arg2508=, XP_006723380.1:p.Arg2508His, rs193922818, NC_000019.9:g.38991539=, NC_000019.10:g.38500899G>A, XP_011525507.1:p.Arg2508His +PA166180949 rs193922826 PA34896 RYR1 NC_000019.10:38504319 1 0 0 0 0 rs193922826, NC_000019.10:g.38504319=, NC_000019.9:g.38994959=, NC_000019.9:g.38994959C>G, NG_008866.1:g.75620C>G, NC_000019.10:g.38504319C>T, NP_000531.2:p.Arg2676=, NP_000531.2:p.Arg2676Trp, NP_000531.2:p.Arg2676Gly, NC_000019.9:g.38994959C>T, 193922826, NG_008866.1:g.75620=, NC_000019.10:g.38504319C>G, 28934001, NG_008866.1:g.75620C>T +PA166163667 rs193922832 PA34896 RYR1 NC_000019.10:38512321 2 1 0 1 0 NC_000019.10:g.38512321G>A, rs193922832, NC_000019.9:g.39002961=, NC_000019.9:g.39002961G>A, NP_000531.2:p.Glu3104=, NC_000019.10:g.38512321=, NG_008866.1:g.83622=, NG_008866.1:g.83622G>A, NP_000531.2:p.Glu3104Lys, 193922832 +PA166163665 rs193922842 PA34896 RYR1 NC_000019.10:38543821 1 0 0 0 0 NC_000019.9:g.39034461C>T, rs193922842, NC_000019.10:g.38543821C>G, NG_008866.1:g.115122=, NC_000019.10:g.38543821=, NG_008866.1:g.115122C>G, NG_008866.1:g.115122C>T, NC_000019.9:g.39034461C>G, NP_000531.2:p.Asp3986=, NC_000019.10:g.38543821C>T, NC_000019.9:g.39034461=, NP_000531.2:p.Asp3986Glu, 193922842 +PA166163663 rs193922843 PA34896 RYR1 NC_000019.10:38543832 4 1 0 1 0 NP_000531.2:p.Gly3990=, rs193922843, NC_000019.9:g.39034472=, NP_000531.2:p.Gly3990Val, NC_000019.9:g.39034472G>T, NG_008866.1:g.115133=, NC_000019.10:g.38543832G>T, 193922843, NC_000019.10:g.38543832=, NG_008866.1:g.115133G>T +PA166183392 rs193922852 PA34896 RYR1 NC_000019.10:38565034 1 0 0 0 0 NC_000019.10:g.38565034G>A, NG_008866.1:g.136335G>A, NP_000531.2:p.Val4234=, NG_008866.1:g.136335G>C, rs193922852, NC_000019.9:g.39055674G>C, NP_000531.2:p.Val4234Leu, NP_000531.2:p.Val4234Met, NC_000019.10:g.38565034G>C, NC_000019.9:g.39055674G>A, 193922852, NC_000019.9:g.39055674=, NC_000019.10:g.38565034=, NG_008866.1:g.136335=, NC_000019.10:g.38565034G>T +PA166155575 rs193922876 PA34896 RYR1 NC_000019.10:38580114 1 1 1 1 0 NC_000019.10:g.38580114C>T, NG_008866.1:g.151415C>T, XP_011525507.1:p.His4804Tyr, rs193922876, XM_006723319.1:c.14464C>T, XP_006723382.1:p.His4822Tyr, XM_011527205.1:c.14410C>T, NP_000531.2:p.His4833Tyr, XM_011527204.1:c.14494C>T, XP_006723380.1:p.His4827Tyr, NM_000540.2:c.14497C>T, NC_000019.10:g.38580114=, NC_000019.9:g.39070754C>T, NC_000019.9:g.39070754=, XP_011525506.1:p.His4832Tyr, NP_000531.2:p.His4833=, XM_006723317.1:c.14479C>T, NP_001036188.1:p.His4828Tyr, NG_008866.1:g.151415=, NM_001042723.1:c.14482C>T, 193922876 +PA166155576 rs193922878 PA34896 RYR1 NC_000019.10:38580370 7 1 0 1 0 NG_008866.1:g.151671C>G, rs193922878, NC_000019.10:g.38580370C>G, NP_001036188.1:p.Leu4833Val, NG_008866.1:g.151671=, XM_006723319.1:c.14479C>G, XM_011527205.1:c.14425C>G, NP_000531.2:p.Leu4838=, NP_000531.2:p.Leu4838Val, XP_006723382.1:p.Leu4827Val, XM_011527204.1:c.14509C>G, XP_011525506.1:p.Leu4837Val, NM_000540.2:c.14512C>G, XP_011525507.1:p.Leu4809Val, NC_000019.10:g.38580370=, NC_000019.9:g.39071010C>G, XP_006723380.1:p.Leu4832Val, NC_000019.9:g.39071010=, XM_006723317.1:c.14494C>G, 193922878, NM_001042723.1:c.14497C>G +PA166250081 rs1940852753 PA134865839 SLCO1B1 NC_000012.12:21178680 1 0 0 0 0 NG_011745.1:g.52487A>G, 1940852753, NC_000012.11:g.21331614=, NG_011745.1:g.52487A>C, NP_006437.3:p.Ile196Leu, NC_000012.12:g.21178680=, NC_000012.12:g.21178680A>C, NC_000012.12:g.21178680A>G, NP_006437.3:p.Ile196Val, rs1940852753, NC_000012.11:g.21331614A>G, NG_011745.1:g.52487=, NP_006437.3:p.Ile196=, NC_000012.11:g.21331614A>C +PA166264181 rs1942499 PA26484 CHRM1 NC_000011.10:62916053 1 0 0 0 0 NC_000011.10:g.62916053A>T, rs1942499, 1942499, NC_000011.9:g.62683525=, NC_000011.10:g.62916053=, NC_000011.9:g.62683525A>T, NC_000011.10:g.62916053A>G, NC_000011.9:g.62683525A>G +PA166185683 rs1944294 PA26293 CDH2 NC_000018.10:28036487 1 0 0 0 0 NC_000018.9:g.25616451=, NC_000018.9:g.25616451A>T, NP_001295105.1:p.Leu21Ter, NC_000018.10:g.28036487=, rs1944294, 1944294, 17493947, NG_011959.1:g.145995T>A, NG_011959.1:g.145995=, 59347715, NC_000018.10:g.28036487A>T, 17463087, NP_001295105.1:p.Leu21=, 17468366 +PA166154344 rs1946518 PA29802,PA36451 IL18,TEX12 NC_000011.10:112164735 5 2 0 0 0 NC_000011.10:g.112164735T>G, NC_000011.10:g.112164735=, XM_005271612.1:c.-24-4510T>G, NC_000011.9:g.112035458T>G, NG_028143.1:g.4383=, NM_001243211.1:c.-838A>C, NC_000011.9:g.112035458=, rs57159524, XM_011542806.1:c.-859A>C, NG_028143.1:g.4383A>C, XM_011542805.1:c.-859A>C, 1946518, 57159524, rs1946518, NM_001562.3:c.-838A>C +PA166176406 rs1946519 PA29802 IL18 NC_000011.10:112164784 1 0 0 0 0 NC_000011.9:g.112035507=, NC_000011.9:g.112035507A>C, 1946519, 60906549, NC_000011.10:g.112164784=, NC_000011.10:g.112164784A>C, NG_028143.1:g.4334T>G, 52831066, rs1946519, NG_028143.1:g.4334= +PA166181219 rs1947274 PA134968284 ADGRL3 NC_000004.12:61878522 4 0 0 0 0 NC_000004.12:g.61878522C>T, 1947274, NC_000004.12:g.61878522C>A, NC_000004.11:g.62744240C>T, NG_033950.2:g.682267C>T, rs1947274, NC_000004.12:g.61878522C>G, NC_000004.11:g.62744240C>G, NC_000004.11:g.62744240=, NC_000004.12:g.61878522=, NG_033950.2:g.682267=, NG_033950.2:g.682267C>G, NC_000004.11:g.62744240C>A, NG_033950.2:g.682267C>A +PA166156531 rs1947275 PA134968284 ADGRL3 NC_000004.12:61878827 1 1 0 0 0 XM_005265661.1:c.1277-13829T>C, XM_011531790.1:c.1481-13829T>C, XM_011531792.1:c.1277-13829T>C, rs1947275, XM_011531793.1:c.1481-13829T>C, 1947275, XM_011531788.1:c.1481-13829T>C, XM_011531785.1:c.1481-13844T>C, 17239171, XM_011531789.1:c.1481-13829T>C, 60568734, XM_011531786.1:c.1481-13829T>C, rs60568734, NG_033950.2:g.682572T>A, NC_000004.12:g.61878827=, NC_000004.11:g.62744545=, NG_033950.2:g.682572T>C, rs17239171, NG_033950.2:g.682572=, XM_005265660.1:c.1481-13829T>C, rs60821071, NC_000004.11:g.62744545T>C, NG_033950.1:g.386707T>C, NC_000004.11:g.62744545T>A, XM_011531787.1:c.1481-13829T>C, 60821071, NM_015236.4:c.1277-13829T>C, NC_000004.12:g.61878827T>A, NC_000004.12:g.61878827T>C, XM_011531784.1:c.1466-13829T>C, XM_011531791.1:c.1481-13829T>C +PA166181364 rs1948 PA26496 CHRNB4 NC_000015.10:78625057 3 1 0 0 0 NG_016143.1:g.1239=, NC_000015.10:g.78625057A>T, NC_000015.9:g.78917399=, 386550084, NC_000015.9:g.78917399A>G, NP_001243496.1:p.Ala198=, NG_016143.1:g.1239T>A, 3784332, NG_016143.1:g.1239T>C, rs1948, NC_000015.9:g.78917399A>T, 1948, 58211758, NC_000015.10:g.78625057A>G, NC_000015.10:g.78625057= +PA166157739 rs1948308 PA31818 NTRK2 NC_000009.12:85001342 1 1 0 0 0 NC_000009.12:g.85001342G>A, XM_005252005.1:c.2125-18864G>A, XM_005252002.1:c.2173-18864G>A, NC_000009.11:g.87616257=, rs1948308, 1948308, XM_011518719.1:c.2125-18864G>A, NC_000009.12:g.85001342=, XM_005252001.1:c.2173-18864G>A, 386550097, 17535327, XM_011518718.1:c.2125-18864G>A, rs17535327, rs386550097, NM_001018064.2:c.2125-18864G>A, XM_005252004.1:c.2173-18864G>A, 57669100, NC_000009.11:g.87616257G>A, NG_012201.2:g.337792=, rs57669100, NG_012201.2:g.337792G>A, NM_006180.4:c.2173-18864G>A, XM_005252003.1:c.2173-18864G>A +PA166154787 rs1952586 PA27886 ESR2 NC_000014.9:64292701 1 0 0 0 0 NG_011535.1:g.50850=, 386550251, NM_001040275.1:c.-91+1332A>G, NR_073496.1:n.654-9626A>G, rs57804327, NC_000014.9:g.64292701T>C, NC_000014.8:g.64759419T>C, NM_001291723.1:c.-90-9626A>G, NC_000014.8:g.64759419=, rs386550251, NC_000014.9:g.64292701=, NM_001291712.1:c.-91+4832A>G, rs1952586, NM_001437.2:c.-91+1332A>G, NR_073505.1:n.654-9626A>G, XM_011536546.1:c.-91+8667A>G, 1952586, XM_011536545.1:c.-91+1332A>G, NG_011535.1:g.50850A>G, 57804327 +PA166203402 rs1953090 PA134962294 IKBKE NC_000001.11:206474804 1 0 0 0 0 NC_000001.11:g.206474804T>G, NC_000001.11:g.206474804=, NC_000001.10:g.206648147T>G, rs1953090, NC_000001.11:g.206474804T>A, NC_000001.10:g.206648147=, 1953090, NC_000001.10:g.206648147T>A, 60401822 +PA166154345 rs1954787 PA28976 GRIK4 NC_000011.10:120792654 7 1 0 0 0 XM_011542785.1:c.83-10039T>C, XM_005271519.1:c.83-10039T>C, XM_005271520.1:c.83-10039T>C, NM_014619.4:c.83-10039T>C, NG_042194.1:g.285909T>C, rs60428773, XM_011542784.1:c.83-10039T>C, NC_000011.10:g.120792654T>C, NC_000011.9:g.120663363T>C, NC_000011.10:g.120792654=, NM_001282473.2:c.83-10039T>C, 60428773, NC_000011.9:g.120663363=, rs1954787, 1954787, 17245727, rs17245727, NM_001282470.2:c.83-10039T>C, XM_011542783.1:c.83-10039T>C, NG_042194.1:g.285909= +PA166156910 rs195854 PA33537 POU2F2 NC_000006.12:98841599 1 0 0 0 0 rs58954307, NC_000006.11:g.99289475T>A, 195854, rs195854, 58954307, NC_000006.11:g.99289475=, NC_000006.12:g.98841599T>A, NC_000006.12:g.98841599= +PA166156911 rs195862 PA33537,PA33539 POU2F2,POU3F2 NC_000006.12:98833933 1 0 0 0 0 NC_000006.11:g.99281809=, NC_000006.12:g.98833933C>A, NM_005604.3:c.-941C>A, rs195862, NC_000006.12:g.98833933=, NC_000006.11:g.99281809C>G, NC_000006.11:g.99281809C>A, NC_000006.12:g.98833933C>G, 195862 +PA166170290 rs1960669 PA28115 FGF2 NC_000004.12:122861413 1 0 0 0 0 NC_000004.11:g.123782568C>A, 1960669, NC_000004.12:g.122861413=, rs1960669, NC_000004.11:g.123782568=, NG_029067.2:g.39706=, 17407794, NC_000004.12:g.122861413C>A, NG_029067.1:g.39706=, 57055237, NG_029067.1:g.39706C>A, NG_029067.2:g.39706C>A +PA166159457 rs1967120 PA244 ABCC1 NC_000016.10:16015037 2 0 0 0 0 NC_000016.9:g.16108894G>A, NC_000016.9:g.16108894G>C, NC_000016.9:g.16108894=, NG_028268.1:g.70461G>A, rs1967120, 1967120, NC_000016.10:g.16015037=, NG_028268.1:g.70461=, 60152684, NG_028268.2:g.70461G>C, NG_028268.2:g.70461G>A, NG_028268.1:g.70461G>C, NC_000016.10:g.16015037G>C, NG_028268.2:g.70461=, NC_000016.10:g.16015037G>A +PA166155024 rs1967309 PA30 ADCY9 NC_000016.10:4015582 3 1 0 0 0 60251320, XM_011522353.1:c.1694-8024T>C, XM_005255079.1:c.1694-8024T>C, 17199163, NM_001116.3:c.1694-8024T>C, XM_005255079.2:c.1694-8024T>C, NC_000016.10:g.4015582A>T, NC_000016.9:g.4065583A>T, rs60251320, NC_000016.10:g.4015582=, NG_011434.2:g.105604=, NG_011434.1:g.105604=, rs17199163, rs1967309, NC_000016.9:g.4065583A>G, 1967309, NG_011434.1:g.105604T>A, NG_011434.2:g.105604T>C, NG_011434.1:g.105604T>C, NC_000016.9:g.4065583=, NG_011434.2:g.105604T>A, NC_000016.10:g.4015582A>G +PA166154346 rs1967554 PA31891,PA134953249 BDNF,BDNF-AS NC_000011.10:27698012 1 0 0 0 0 NR_033315.1:n.1278A>C, NM_170732.4:c.-22+22334T>G, NC_000011.9:g.27719559A>C, NC_000011.10:g.27698012A>C, NM_001143805.1:c.-22+22632T>G, NM_001143806.1:c.-22+22417T>G, NM_001143811.1:c.-422+2959T>G, NM_001143812.1:c.-22+2664T>G, NM_001143807.1:c.-22+21499T>G, NM_170734.3:c.24+1370T>G, NM_001709.4:c.-22+2152T>G, rs1967554, NM_001143814.1:c.-129+2152T>G, 1967554, NC_000011.10:g.27698012=, NR_033312.1:n.1877A>C, NM_001143810.1:c.-59+2959T>G, NC_000011.9:g.27719559=, NM_001143809.1:c.66+2959T>G, NG_011794.1:g.29047T>G, NM_001143808.1:c.-22+2969T>G, NG_011794.1:g.29047=, rs57560974, NM_170731.4:c.3+23400T>G, NM_170733.3:c.-22+3285T>G, NM_001143813.1:c.-22+2170T>G, NR_033313.1:n.1120A>C, 57560974 +PA166170654 rs1968753 PA107 CES1 NC_000016.10:55811439 1 0 0 0 0 386550732, rs1968753, 1968753, NC_000016.10:g.55811439A>G, NC_000016.9:g.55845351=, NC_000016.9:g.55845351A>G, NG_012057.1:g.26725=, 72486002, 59943169, NG_012057.1:g.26725T>C, NC_000016.10:g.55811439= +PA166156336 rs1969624 PA34925 SACM1L NC_000003.12:45693326 1 1 0 0 0 NC_000003.11:g.45734818=, NM_001319073.1:c.-278+2939T>C, NM_001319072.1:c.-24+3829T>C, NM_014016.4:c.32+3829T>C, 1969624, rs1969624, XM_011533500.1:c.-24+2939T>C, 58249512, NC_000003.12:g.45693326=, rs17328736, XM_011533499.1:c.-24+3829T>C, XR_940392.1:n.142+3829T>C, NC_000003.12:g.45693326T>C, rs58249512, NC_000003.11:g.45734818T>C, 17328736, XR_245103.1:n.142+3829T>C, XM_005264965.1:c.-24+3829T>C +PA166179954 rs1971431 PA29557 HTR4 NC_000005.10:148452493 1 0 0 0 0 1971431, NC_000005.9:g.147832056=, NC_000005.10:g.148452493=, NG_029052.1:g.206684=, NC_000005.10:g.148452493C>T, NG_029052.1:g.206684G>A, rs1971431, NC_000005.9:g.147832056C>T +PA166153561 rs197388 PA27209,PA142672431 DDX20,INKA2 NC_000001.11:111754860 1 0 0 0 0 NM_007204.4:c.-1065A>T, NM_198926.2:c.12+841T>A, NR_125963.1:n.222+428T>A, rs197388, rs59798432, XR_246396.1:n.-1300T>A, NC_000001.11:g.111754860A>T, NC_000001.11:g.111754860=, NC_000001.10:g.112297482=, NC_000001.10:g.112297482A>T, 59798432, XR_246395.1:n.249+428T>A, 197388 +PA166162757 rs1975974 NC_000017.11:22180454 1 0 0 0 0 NC_000017.11:g.22180454=, NC_000017.10:g.21707060=, 1975974, rs1975974, 61553468, NC_000017.11:g.22180454A>G, NC_000017.10:g.21707060A>G +PA166179207 rs1976391 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233757337 3 2 0 0 0 1976391, NC_000002.12:g.233757337A>G, NC_000002.11:g.234665983=, NC_000002.12:g.233757337=, rs1976391, NC_000002.11:g.234665983A>G, 111741722, NG_002601.2:g.172594A>G, 4624373, NG_002601.2:g.172594=, NG_033238.1:g.2065=, NG_033238.1:g.2065A>G +PA166181485 rs1978153 PA376 ABCC3 NC_000017.11:50660500 1 0 0 0 0 1978153, 57768834, NC_000017.10:g.48737861C>G, rs1978153, NC_000017.10:g.48737861C>T, NC_000017.11:g.50660500C>T, 56589282, NC_000017.11:g.50660500C>G, NC_000017.11:g.50660500=, NC_000017.10:g.48737861= +PA166169482 rs1978707 PA36055 SPARC NC_000005.10:151673098 1 0 0 0 0 NC_000005.9:g.151052659G>A, NG_042174.1:g.18957C>A, rs1978707, 1978707, NC_000005.10:g.151673098G>T, NG_042174.1:g.18957=, 17718290, NC_000005.10:g.151673098G>A, NG_042174.1:g.18957C>T, NC_000005.9:g.151052659=, NC_000005.9:g.151052659G>T, NC_000005.10:g.151673098= +PA166155196 rs1979277 PA35753,PA38266 SHMT1,SMCR8 NC_000017.11:18328782 12 2 0 0 0 57933897, 17850285, NG_017111.1:g.39761=, NP_004160.3:p.Leu474Phe, XM_005256767.1:c.1420C>T, NP_001268715.1:p.Leu336Phe, XP_005256825.1:p.Leu336Phe, NM_001281786.1:c.1006C>T, NM_148918.2:c.1303C>T, rs3183766, 3183766, NP_683718.1:p.Leu435Phe, XP_011522294.1:p.Leu394Phe, NG_017111.1:g.39761C>T, 2230025, rs2230025, XM_011523992.1:c.1180C>T, XM_005256768.1:c.1006C>T, NC_000017.11:g.18328782=, XM_005256767.2:c.1420C>T, NC_000017.10:g.18232096G>A, NC_000017.10:g.18232096=, XP_005256824.1:p.Leu474Phe, rs1979277, rs17850285, NP_004160.3:p.Leu474=, rs57933897, NM_004169.4:c.1420C>T, NC_000017.11:g.18328782G>A, 1979277 +PA166155654 rs1980422 PA26207 CD28 NC_000002.12:203745673 1 0 0 0 0 59734983, NC_000002.11:g.204610396C>A, rs17246801, NC_000002.12:g.203745673C>T, NC_000002.12:g.203745673=, 60654513, rs1980422, NC_000002.11:g.204610396=, 17246801, rs59734983, NC_000002.11:g.204610396C>T, 1980422, NC_000002.12:g.203745673C>A, rs60654513 +PA166180149 rs1982235 PA25133 ATP5MC3 NC_000002.12:175183178 2 0 0 0 0 1982235, rs1982235, 57150904, NC_000002.11:g.176047906T>G, NC_000002.12:g.175183178T>G, NC_000002.12:g.175183178=, NC_000002.12:g.175183178T>A, NC_000002.11:g.176047906T>A, NC_000002.11:g.176047906= +PA166154347 rs1982350 PA24996 BMAL1 NC_000011.10:13328584 1 0 0 0 0 XM_011520105.1:c.-9+18525A>G, XM_011520112.1:c.-335+2117A>G, XM_011520108.1:c.-135+2117A>G, XM_005252929.1:c.-135+2117A>G, 386551285, NM_001297719.1:c.-135+2117A>G, XM_006718233.2:c.-135+18525A>G, XM_011520113.1:c.-335+2117A>G, XM_011520107.1:c.-9+18525A>G, XM_011520110.1:c.-335+2117A>G, XM_005252928.1:c.-135+2117A>G, XM_011520111.1:c.-209+18525A>G, NM_001297724.1:c.-328+18525A>G, NC_000011.10:g.13328584A>G, XM_011520109.1:c.-9+18525A>G, XM_011520106.1:c.-9+18525A>G, rs1982350, NM_001178.5:c.-135+2117A>G, NC_000011.9:g.13350131=, XM_006718234.1:c.-335+18525A>G, NM_001030272.2:c.-135+18525A>G, 1982350, XM_005252930.1:c.-135+18525A>G, rs386551285, NC_000011.10:g.13328584=, NC_000011.9:g.13350131A>G, NM_001297722.1:c.-135+18525A>G, NM_001030273.2:c.-335+18525A>G +PA166155655 rs1983023 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233728376 8 4 3 0 0 XR_241240.1:n.1022+34511T>C, XR_241241.1:n.942-38658T>C, NM_007120.2:c.867+8689T>C, NM_019076.4:c.856-38658T>C, NM_019078.1:c.867+14518T>C, 56942938, NG_002601.2:g.143633T>C, NM_021027.2:c.856-38658T>C, NM_205862.1:c.60+34511T>C, XR_241238.1:n.923+8689T>C, NM_019077.2:c.856-38658T>C, NC_000002.11:g.234637022=, NC_000002.11:g.234637022T>C, NM_001072.3:c.861+34511T>C, rs17864455, 16849652, 1983023, NG_002601.2:g.143633=, rs1983023, rs56942938, NM_019075.2:c.856-38658T>C, NM_019093.2:c.-751T>C, NC_000002.12:g.233728376T>C, 17864455, NC_000002.12:g.233728376=, rs16849652 +PA166232227 rs1983812 PA28983 GRIN3A NC_000009.12:101570761 1 0 0 0 0 59085540, NC_000009.12:g.101570761T>C, 1983812, NC_000009.11:g.104333043T>C, rs1983812, NC_000009.11:g.104333043=, 17774748, 386551396, NC_000009.12:g.101570761= +PA166256883 rs1985242 PA29555 HTR3A NC_000011.10:113977551 1 0 0 0 0 NC_000011.10:g.113977551=, NC_000011.9:g.113848273A>C, NG_013058.1:g.7477A>T, 1985242, NC_000011.10:g.113977551A>C, NG_013058.1:g.7477=, rs1985242, 17543410, 57152297, 3890572, NC_000011.9:g.113848273=, NC_000011.9:g.113848273A>T, NG_013058.1:g.7477A>C, NC_000011.10:g.113977551A>T +PA166156081 rs1985842 PA128 CYP2D6 NC_000022.11:42127407 1 0 0 0 0 NW_009646208.1:g.12973G>T, NM_000106.5:c.1173+40A>C, NM_000106.5:c.1173+40C>A, XM_005278353.1:c.1029+40C>A, NG_008376.3:g.7585A=, XM_011529968.1:c.1173+40A>C, XM_011529968.1:c.1173+40C>A, XM_011547750.1:c.1029+40A>C, XM_011547750.1:c.1029+40C>A, XM_011547751.1:c.957+40A>C, XM_011547751.1:c.957+40C>A, NG_008376.3:g.7585=, XM_005278354.3:c.873+40A>C, XM_005278354.3:c.873+40C>A, rs61693657, XM_005278354.1:c.873+40C>A, XM_011529966.1:c.1173+40A>C, XM_011529966.1:c.1173+40C>A, XM_011548819.1:c.*319A>C, XM_011548819.1:c.*319C>A, NM_001025161.2:c.1020+40A>C, NM_001025161.2:c.1020+40C>A, rs1985842, rs28371727, XM_011547541.1:c.*319A>C, XM_011547541.1:c.*319C>A, NC_000022.11:g.42127407T>G, NT_187682.1:g.49748G=, XM_011529967.1:c.1173+40A>C, XM_011529967.1:c.1173+40C>A, NW_004504305.1:g.49734G=, NG_008376.4:g.8404A>C, XM_011529972.1:c.*198A>C, XM_011529972.1:c.*198C>A, XM_011529970.1:c.1020+40A>C, XM_011529970.1:c.1020+40C>A, NT_187682.1:g.49748G>T, NC_000022.11:g.42127407T=, XM_011529971.1:c.1029+40A>C, XM_011529971.1:c.1029+40C>A, NC_000022.10:g.42523409G>T, NG_008376.3:g.7585A>C, 28371727, 1985842, 61693657, NW_009646208.1:g.12973G=, NW_004504305.1:g.49734G>T, XM_011529969.1:c.1029+40A>C, XM_011529969.1:c.1029+40C>A, NG_008376.4:g.8404=, NC_000022.11:g.42127407=, XR_952745.1:n.2188+40A>C, XR_952745.1:n.2188+40C>A +PA166157313 rs1989796 PA28992 GRM3 NC_000007.14:86844997 1 0 0 0 0 XM_005250287.1:c.2007+5092T>C, rs59168320, 10375213, XM_005250286.1:c.2391+5092T>C, XM_005250289.1:c.1167+5092T>C, NC_000007.13:g.86474313=, NC_000007.14:g.86844997=, rs1989796, NM_000840.2:c.2391+5092T>C, 1989796, rs2299229, 59168320, XM_011516088.1:c.1325-5373T>C, NC_000007.13:g.86474313T>C, NC_000007.14:g.86844997T>A, XM_005250288.1:c.1325-5373T>C, NC_000007.14:g.86844997T>C, rs10375213, 2299229, NC_000007.13:g.86474313T>A +PA166157314 rs1990040 PA28992 GRM3 NC_000007.14:86683758 1 1 0 0 0 NC_000007.13:g.86313074A>G, 1990040, rs1990040, NC_000007.13:g.86313074=, XM_011516088.1:c.-141+38886A>G, XM_005250289.1:c.100+38886A>G, rs17675465, 17675465, XM_005250287.1:c.84+38886A>G, NM_000840.2:c.-141+38886A>G, XM_011516089.1:c.-141+38886A>G, NC_000007.14:g.86683758A>G, XM_011516090.1:c.-141+38886A>G, NC_000007.14:g.86683758= +PA166155656 rs1990761 PA28606 GCG NC_000002.12:162141193 1 0 0 0 0 rs1990761, NC_000002.12:g.162141193=, XR_241339.1:n.93-20577G>A, NC_000002.11:g.162997703G>A, 17710539, rs59802638, 59802638, NC_000002.11:g.162997703=, NC_000002.12:g.162141193G>A, NR_110255.1:n.93-20577G>A, rs17710539, 1990761 +PA166156777 rs1992647 PA28494 GABRA6 NC_000005.10:161684168 1 1 0 0 0 NM_000811.2:c.-1822G>A, NC_000005.10:g.161684168=, rs1992647, 1992647, NC_000005.10:g.161684168G>A, NC_000005.9:g.161111174G>A, NC_000005.9:g.161111174= +PA166186009 rs199472944 PA212 KCNH2 NC_000007.14:150951552 1 0 0 0 0 NP_000229.1:p.Ala614=, NP_000229.1:p.Ala614Val, 199472944, NC_000007.14:g.150951552G>A, NG_008916.1:g.31375C>T, NC_000007.14:g.150951552=, rs199472944, NC_000007.13:g.150648640=, NG_008916.1:g.31375=, NC_000007.13:g.150648640G>A +PA166185591 rs199472959 PA212 KCNH2 NC_000007.14:150951502 1 0 0 0 0 NG_008916.1:g.31425=, rs199472959, NC_000007.14:g.150951502=, NP_000229.1:p.Ser631=, 199472959, NC_000007.14:g.150951502A>C, NP_000229.1:p.Ser631Ala, NC_000007.13:g.150648590A>C, NC_000007.13:g.150648590=, NG_008916.1:g.31425T>G +PA166156778 rs1994862 PA28966 GRIA1 NC_000005.10:153609350 1 0 0 0 0 1994862, rs1994862, NM_001114183.1:c.221-37578C>G, NC_000005.10:g.153609350C>G, rs17592384, NC_000005.9:g.152988910C>T, NC_000005.10:g.153609350C>T, NR_047578.1:n.448-37578C>G, NG_047078.1:g.124655=, NG_047078.1:g.124655C>T, XM_011537635.1:c.161-37578C>G, XR_427776.2:n.491-37578C>G, NC_000005.10:g.153609350=, NC_000005.9:g.152988910=, NM_001258019.1:c.221-40980C>G, NM_000827.3:c.221-37578C>G, NC_000005.9:g.152988910C>G, NM_001258021.1:c.251-37578C>G, NM_001258020.1:c.-65-37578C>G, NM_001258022.1:c.251-37578C>G, NG_047078.1:g.124655C>G, 17592384, NM_001258023.1:c.14-37578C>G +PA166153660 rs1995152 NC_000001.11:222596251 1 0 0 0 0 9441921, NC_000001.10:g.222769593=, 17163288, NC_000001.11:g.222596251=, NC_000001.10:g.222769593A>C, rs1995152, rs17163288, 1995152, rs9441921, NC_000001.11:g.222596251A>C +PA166262001 rs199515342 PA121 CYP2A6 NC_000019.10:40849971 1 1 0 0 0 NG_008377.1:g.5477=, NC_000019.10:g.40849971=, NC_000019.9:g.41355876G>A, NC_000019.10:g.40849971G>A, NP_000753.3:p.Arg64=, NC_000019.9:g.41355876=, NG_008377.1:g.5477C>T, 199515342, NP_000753.3:p.Arg64Ser, NG_008377.1:g.5477C>A, rs199515342, NC_000019.9:g.41355876G>T, NP_000753.3:p.Arg64Cys, NC_000019.10:g.40849971G>T +PA166154223 rs199523631 PA126 CYP2C9 NC_000010.11:94942254 3 2 2 0 0 NG_008385.2:g.9097=, 199523631, NC_000010.10:g.96702011C>T, NM_000771.3:c.394C>T, NC_000010.11:g.94942254=, NP_000762.2:p.Arg132Trp, XM_005269575.1:c.394C>T, rs199523631, NG_008385.1:g.8597C>T, NC_000010.10:g.96702011=, NG_008385.2:g.9097C>T, NP_000762.2:p.Arg132=, NC_000010.11:g.94942254C>T, NG_008385.1:g.8597=, XP_005269632.1:p.Arg132Trp +PA166156218 rs199535154 PA128 CYP2D6 NC_000022.11:42128812 2 0 0 0 0 NW_004504305.1:g.51139A>G, XM_005278354.1:c.338T>C, XM_011529968.1:c.638T>C, NP_000097.3:p.Leu213Pro, NC_000022.11:g.42128812A>G, XR_430455.2:n.-1059A>G, NW_009646208.1:g.14378A>G, XM_011547750.1:c.494T>C, NP_000097.3:p.Leu213=, XM_005278353.1:c.494T>C, XR_952745.1:n.1795T>C, NG_008376.4:g.6999T>C, XM_011529972.1:c.638T>C, XM_011547756.1:c.-1223A>G, XP_011528273.1:p.Leu165Pro, XP_011528272.1:p.Leu162Pro, XM_011529967.1:c.638T>C, XP_011528269.1:p.Leu213Pro, XP_011547121.1:p.Leu113Pro, XP_005278411.1:p.Leu113Pro, XP_011528271.1:p.Leu165Pro, NG_008376.3:g.6180T>C, NT_187682.1:g.51153A>G, NG_008376.4:g.6999=, NM_000106.5:c.638T>C, rs199535154, NM_001025161.2:c.485T>C, NP_001020332.2:p.Leu162Pro, XM_011529971.1:c.494T>C, XM_011529970.1:c.485T>C, XM_011529966.1:c.638T>C, XP_005278410.1:p.Leu165Pro, NC_000022.10:g.42524814A>G, XP_011528270.1:p.Leu213Pro, XM_011547541.1:c.338T>C, XM_011548819.1:c.338T>C, NC_000022.11:g.42128812=, NC_000022.10:g.42524814=, XM_011529969.1:c.494T>C, XP_011546052.1:p.Leu165Pro, XP_011546053.1:p.Leu141Pro, XM_011547751.1:c.422T>C, NG_008376.3:g.6180=, XM_005278354.3:c.338T>C, XP_011528274.1:p.Leu213Pro, 199535154, XP_011528268.1:p.Leu213Pro, XP_011545843.1:p.Leu113Pro +PA166156779 rs1995380 PA134888452 SV2C NC_000005.10:76216832 1 0 0 0 0 NC_000005.9:g.75512657=, NM_014979.3:c.913+6945G>C, XM_011543281.1:c.913+6945G>C, rs60707885, NC_000005.9:g.75512657G>C, NC_000005.10:g.76216832=, NM_001297716.1:c.913+6945G>C, XM_005248470.1:c.913+6945G>C, 60707885, rs1995380, 1995380, NC_000005.10:g.76216832G>C, XM_011543282.1:c.160+6945G>C +PA166156780 rs1995381 PA134888452 SV2C NC_000005.10:76274833 1 0 0 0 0 NC_000005.10:g.76274833A>T, NM_001297716.1:c.914-10329A>G, NC_000005.9:g.75570658A>T, XM_011543282.1:c.161-10329A>G, NM_014979.3:c.914-10329A>G, NC_000005.10:g.76274833=, 61306801, NC_000005.10:g.76274833A>G, rs1995381, XM_005248470.1:c.914-10329A>G, XM_011543281.1:c.914-10329A>G, NC_000005.9:g.75570658=, 1995381, rs61306801, NC_000005.9:g.75570658A>G +PA166207563 rs199539783 PA126 CYP2C9 NC_000010.11:94947817 1 0 0 0 0 NC_000010.11:g.94947817C>G, NP_000762.2:p.Pro174=, 199539783, NG_008385.1:g.14160=, NG_008385.1:g.14160C>G, NC_000010.10:g.96707574=, rs199539783, NP_000762.2:p.Pro174Ala, NC_000010.10:g.96707574C>G, NC_000010.11:g.94947817=, NG_008385.2:g.14660=, NG_008385.2:g.14660C>G +PA166159782 rs199549923 PA145 DPYD NC_000001.11:97549681 1 0 0 1 0 NC_000001.10:g.98015237G>T, NP_000101.2:p.Thr468=, NC_000001.10:g.98015237=, NC_000001.11:g.97549681G>T, 199549923, NG_008807.2:g.376379C>A, NC_000001.11:g.97549681=, NG_008807.2:g.376379=, rs199549923, NP_000101.2:p.Thr468Asn +PA166170340 rs199564443 PA28227 FOXF2 NC_000006.12:1388745_1388748 1 1 0 0 0 199564443, NG_046984.1:g.3911_3915=, NC_000006.11:g.1388979_1388983=, rs199564443, NC_000006.12:g.1388744_1388748=, NC_000006.12:g.1388745_1388748del, NC_000006.11:g.1388980_1388983del, NG_046984.1:g.3912_3915del +PA166159794 rs199634007 PA145 DPYD NC_000001.11:97234958 1 0 0 1 0 NP_000101.2:p.Thr779Asn, NG_008807.2:g.691102C>A, NC_000001.11:g.97234958G>A, NC_000001.10:g.97700514G>T, NG_008807.2:g.691102=, NP_000101.2:p.Thr779=, rs199634007, NC_000001.10:g.97700514=, NG_008807.2:g.691102C>T, NC_000001.11:g.97234958=, NC_000001.11:g.97234958G>T, NP_000101.2:p.Thr779Ile, 199634007, NC_000001.10:g.97700514G>A +PA166319904 rs199646142 PA145 DPYD NC_000001.11:97573870 1 0 0 0 0 NP_000101.2:p.Arg410Leu, NC_000001.11:g.97573870C>G, NC_000001.11:g.97573870=, NG_008807.2:g.352190G>C, NG_008807.2:g.352190G>A, NP_000101.2:p.Arg410=, NC_000001.10:g.98039426C>T, NC_000001.11:g.97573870C>T, NP_000101.2:p.Arg410Pro, NG_008807.2:g.352190G>T, 199646142, NC_000001.10:g.98039426C>A, rs199646142, NC_000001.11:g.97573870C>A, NG_008807.2:g.352190=, NC_000001.10:g.98039426=, NP_000101.2:p.Arg410Gln, NC_000001.10:g.98039426C>G +PA166175907 rs199670311 PA38211 PGAP6 NC_000016.10:377758 1 0 0 0 0 NP_067082.2:p.Arg71=, NC_000016.10:g.377758=, 199670311, NC_000016.9:g.427758C>T, NP_067082.2:p.Arg71His, rs199670311, NC_000016.9:g.427758=, NC_000016.10:g.377758C>T +PA166157535 rs199695765 PA26817 CPA2 NC_000007.14:130269008 1 1 0 0 0 NC_000007.13:g.129908848=, rs199695765, NC_000007.14:g.130269008=, 199695765, NP_001860.2:p.Gln51=, NC_000007.13:g.129908848C>T, NP_001860.2:p.Gln51Ter, NC_000007.14:g.130269008C>T, NM_001869.2:c.151C>T +PA166304923 rs199717190 PA27112 CYP2J2 NC_000001.11:59904941 1 0 0 0 0 rs199717190, NC_000001.11:g.59904941T>A, NP_000766.2:p.Asn374Ile, NP_000766.2:p.Asn374=, NG_007931.1:g.26811A>T, 199717190, NC_000001.11:g.59904941=, NC_000001.10:g.60370613=, NG_007931.1:g.26811=, NC_000001.10:g.60370613T>A +PA166265649 rs199755581 PA164723926 NIPAL2 NC_000008.11:98263831 1 0 0 0 0 NC_000008.11:g.98263831del, rs199755581, 199755581, NC_000008.11:g.98263824_98263831=, NC_000008.10:g.99276052_99276059=, 200829124, NC_000008.10:g.99276059del +PA166319981 rs199777072 PA145 DPYD NC_000001.11:97193206 1 0 0 0 0 NP_000101.2:p.Asp829=, rs199777072, NC_000001.11:g.97193206=, NC_000001.10:g.97658762=, NC_000001.11:g.97193206C>T, NC_000001.10:g.97658762C>T, NG_008807.2:g.732854G>A, NG_008807.2:g.732854=, 199777072, NP_000101.2:p.Asp829Asn +PA166177932 rs1997794 PA33163 PDYN NC_000020.11:1994212 4 1 0 0 0 NC_000020.11:g.1994212T>C, NC_000020.10:g.1974858T>A, NC_000020.10:g.1974858T>C, NC_000020.11:g.1994212=, NG_028027.1:g.5034A>G, NC_000020.11:g.1994212T>A, 57778675, 56637040, NG_028027.1:g.5034=, NG_028027.1:g.5034A>T, 17777692, NC_000020.10:g.1974858=, rs1997794, 1997794 +PA166247001 rs1998591 NC_000010.11:94648221 1 0 0 0 0 17110176, NC_000010.10:g.96407978=, 1998591, 386551981, rs1998591, NC_000010.11:g.94648221G>A, 58989591, NC_000010.10:g.96407978G>A, NC_000010.11:g.94648221= +PA166279684 rs199916117 PA121 CYP2A6 NC_000019.10:40848293 2 2 2 0 0 NG_008377.1:g.7155A>G, NC_000019.9:g.41354198T>C, 199916117, NP_000753.3:p.Lys194=, NG_008377.1:g.7155=, NC_000019.10:g.40848293T>C, NC_000019.10:g.40848293=, NP_000753.3:p.Lys194Glu, rs199916117, NC_000019.9:g.41354198= +PA166211501 rs199944431 NC_000016.10:55793007 2 0 0 0 0 replaces rs3815589, 199944431, NC_000016.10:g.55793007=, rs199944431, NC_000016.10:g.55793007C>G, NC_000016.9:g.55826919C>G, NC_000016.9:g.55826919= +PA166157740 rs2000068 NC_000009.12:104956027 1 0 0 0 0 NC_000009.11:g.107718308=, NC_000009.11:g.107718308A>T, NC_000009.11:g.107718308A>G, rs2000068, NC_000009.12:g.104956027=, NC_000009.12:g.104956027A>C, NC_000009.11:g.107718308A>C, NC_000009.12:g.104956027A>T, NC_000009.12:g.104956027A>G, 2000068 +PA166182301 rs200034939 PA304 SCN5A NC_000003.12:38557248 1 0 0 0 0 NG_008934.1:g.97425=, 200034939, NC_000003.12:g.38557248=, NC_000003.11:g.38598739C>A, NC_000003.12:g.38557248C>A, NC_000003.11:g.38598739=, NP_000326.2:p.Ala1427=, NP_000326.2:p.Ala1427Ser, rs200034939, NG_008934.1:g.97425G>T +PA166159778 rs200064537 PA145 DPYD NC_000001.11:97573839 1 0 0 1 0 NC_000001.10:g.98039395A>T, NC_000001.11:g.97573839A>T, NG_008807.2:g.352221=, 200064537, NC_000001.11:g.97573839=, NC_000001.10:g.98039395=, NP_000101.2:p.Asn420=, rs200064537, NG_008807.2:g.352221T>A, NP_000101.2:p.Asn420Lys +PA166306582 rs2000999 PA29426 HPR NC_000016.10:72074194 2 0 0 0 0 2000999, NC_000016.10:g.72074194G>A, rs2000999, NG_030311.1:g.15969=, NC_000016.9:g.72108093G>A, 56910708, NC_000016.9:g.72108093=, NG_030311.1:g.15969G>A, NC_000016.10:g.72074194= +PA166156912 rs200148 NC_000006.12:143024559 1 1 0 0 0 NC_000006.12:g.143024559G>A, rs629392, NC_000006.12:g.143024559=, NC_000006.11:g.143345696G>A, rs61230468, 61230468, NC_000006.11:g.143345696=, rs200148, 200148, NR_038987.1:n.595-2606C>T, 629392 +PA166207801 rs200149294 PA126 CYP2C9 NC_000010.11:94947836 1 0 0 0 0 NG_008385.1:g.14179C>T, NG_008385.2:g.14679C>T, rs200149294, NC_000010.10:g.96707593C>T, NG_008385.2:g.14679=, NP_000762.2:p.Ser180Phe, NP_000762.2:p.Ser180=, NC_000010.10:g.96707593=, NG_008385.1:g.14179=, NC_000010.11:g.94947836C>T, NC_000010.11:g.94947836=, 200149294 +PA166181736 rs200150287 PA124 CYP2C19 NC_000010.11:94775431 4 0 0 0 0 rs200150287, NG_008384.3:g.17751C>T, NP_000760.1:p.Arg125=, NC_000010.10:g.96535188C>T, NG_008384.3:g.17751=, NP_000760.1:p.Arg125Cys, NC_000010.11:g.94775431C>G, NG_008384.3:g.17751C>G, NC_000010.11:g.94775431C>T, NC_000010.11:g.94775431=, NC_000010.10:g.96535188C>G, NC_000010.10:g.96535188=, 200150287, NP_000760.1:p.Arg125Gly +PA166232823 rs200157005 PA159 F5 NC_000001.11:169530994 1 0 0 0 0 NC_000001.10:g.169500232=, 200157005, NC_000001.10:g.169500232G>A, NC_000001.11:g.169530994=, NC_000001.11:g.169530994G>A, NG_011806.1:g.60538C>T, rs200157005, NP_000121.2:p.Pro1667=, NG_011806.1:g.60538=, NP_000121.2:p.Pro1667Leu +PA166159019 rs200183364 PA126 CYP2C9 NC_000010.11:94942255 3 1 1 0 0 NG_008385.1:g.8598G>A, NG_008385.2:g.9098=, NP_000762.2:p.Arg132Gln, NC_000010.10:g.96702012=, NG_008385.2:g.9098G>A, NP_000762.2:p.Arg132=, NC_000010.11:g.94942255G>A, rs200183364, NG_008385.1:g.8598=, NC_000010.11:g.94942255=, 200183364, NC_000010.10:g.96702012G>A +PA166181271 rs2002042 PA116 ABCC2 NC_000010.11:99828174 1 0 0 0 0 NG_011798.2:g.50577C>T, 52824325, NG_011798.1:g.50469=, NG_011798.2:g.50577=, 61188492, 56642229, NG_011798.1:g.50469C>T, rs2002042, 2002042, 17112287, NC_000010.10:g.101587931C>T, NC_000010.10:g.101587931=, NC_000010.11:g.99828174=, NC_000010.11:g.99828174C>T +PA166157232 rs200220210 PA356 TPMT NC_000006.12:18139710 7 1 1 0 0 XP_011513141.1:p.Ser125Leu, XM_011514840.1:c.305C>T, NG_012137.2:g.20434C>T, NC_000006.11:g.18139941G>A, NC_000006.12:g.18139710G>A, NP_000358.1:p.Ser125=, NC_000006.12:g.18139710=, rs200220210, NC_000006.11:g.18139941=, 200220210, XP_011513142.1:p.Ser102Leu, NG_012137.2:g.20434=, NP_000358.1:p.Ser125Leu, NM_000367.3:c.374C>T, XM_011514839.1:c.374C>T +PA166290049 rs200238771 PA123 CYP2B6 NC_000019.10:41012478 2 0 0 0 0 200238771, NG_007929.1:g.26180=, NG_007929.1:g.26180T>A, NP_000758.1:p.Ile382=, NC_000019.10:g.41012478=, NP_000758.1:p.Ile382Asn, rs200238771, NC_000019.9:g.41518383T>A, NC_000019.10:g.41012478T>A, NC_000019.9:g.41518383= +PA166165268 rs200245496 PA31691 NOX3 NC_000006.12:155455778 1 0 0 0 0 NP_056533.1:p.Asn8Ser, rs200245496, NC_000006.12:g.155455778=, NC_000006.11:g.155776912T>C, NG_011995.1:g.5126=, NC_000006.11:g.155776912=, NP_056533.1:p.Asn8=, NG_011995.1:g.5126A>G, NC_000006.12:g.155455778T>C, 200245496 +PA166155025 rs2002577 PA107 CES1 NC_000016.10:55815590 2 0 0 0 0 XM_005276867.1:c.945+1334C>G, NG_012057.1:g.22574C>A, NM_001025195.1:c.945+1334C>G, rs16956424, NC_000016.9:g.55849502G>T, rs2002577, XM_011522816.1:c.945+1334C>G, 2002577, XM_011546995.1:c.945+1334C>G, NM_001025194.1:c.942+1334C>G, NM_001266.4:c.942+1334C>G, NC_000016.10:g.55815590G>T, NC_000016.9:g.55849502=, NC_000016.9:g.55849502G>C, NW_003315945.1:g.39468G>C, 16956424, NC_000016.10:g.55815590G>A, NC_000016.9:g.55849502G>A, NG_012057.1:g.22574C>T, NC_000016.10:g.55815590=, NG_012057.1:g.22574C>G, NC_000016.10:g.55815590G>C, XM_005255774.1:c.945+1334C>G, NG_012057.1:g.22574= +PA166319945 rs200296941 PA145 DPYD NC_000001.11:97450063 1 0 0 0 0 NP_000101.2:p.Asp634Ala, NG_008807.2:g.475997=, NC_000001.11:g.97450063=, NC_000001.11:g.97450063T>G, NC_000001.10:g.97915619T>C, NG_008807.2:g.475997A>T, 200296941, NC_000001.10:g.97915619=, NC_000001.10:g.97915619T>A, NC_000001.10:g.97915619T>G, NP_000101.2:p.Asp634Gly, NP_000101.2:p.Asp634Val, NC_000001.11:g.97450063T>A, NP_000101.2:p.Asp634=, NC_000001.11:g.97450063T>C, NG_008807.2:g.475997A>C, rs200296941, NG_008807.2:g.475997A>G +PA166164954 rs200321110 PA109 CFTR NC_000007.14:117611646 0 0 0 0 2 NG_056128.1:g.4700=, NC_000007.13:g.117251700G>A, NG_016465.4:g.150863=, NP_000483.3:p.Gly1069=, 200321110, NC_000007.13:g.117251700=, NC_000007.14:g.117611646=, NP_000483.3:p.Gly1069Arg, NG_056128.2:g.4700=, NG_056128.2:g.4700G>A, rs200321110, NC_000007.14:g.117611646G>A, NG_056128.1:g.4700G>A, NG_016465.4:g.150863G>A +PA166181734 rs200346442 PA124 CYP2C19 NC_000010.11:94775429 4 0 0 0 0 NC_000010.11:g.94775429G>A, 200346442, NG_008384.3:g.17749=, NC_000010.10:g.96535186G>A, NP_000760.1:p.Arg124=, NP_000760.1:p.Arg124Gln, NC_000010.10:g.96535186=, NG_008384.3:g.17749G>A, rs200346442, NC_000010.11:g.94775429= +PA166155657 rs2003569 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233759291 2 1 0 0 0 rs17286591, rs2003569, 2003569, NG_033238.1:g.4019G>A, NM_019075.2:c.856-7743G>A, 17286591, XR_241241.1:n.942-7743G>A, NM_019093.2:c.868-7743G>A, XR_241240.1:n.1023-7743G>A, NM_021027.2:c.856-7743G>A, NM_007120.2:c.868-7743G>A, XR_241239.1:n.-975G>A, NC_000002.12:g.233759291=, NM_000463.2:c.-997G>A, NG_033238.1:g.4019=, NM_001072.3:c.862-7743G>A, NC_000002.11:g.234667937G>A, XR_241238.1:n.924-7743G>A, NM_019076.4:c.856-7743G>A, NM_205862.1:c.61-7743G>A, NC_000002.12:g.233759291G>A, NG_002601.2:g.174548=, NG_002601.2:g.174548G>A, NC_000002.11:g.234667937=, NM_019077.2:c.856-7743G>A, NM_019078.1:c.868-7743G>A +PA166156082 rs2004511 PA128 CYP2D6 NC_000022.11:42127209 1 0 0 0 0 XM_011529970.1:c.1021-217A>G, XM_011529970.1:c.1021-217G>A, XM_005278353.1:c.1030-217A>G, XM_005278353.1:c.1030-217G>A, NG_008376.3:g.7783A>G, XM_011529966.1:c.1174-217A>G, XM_011529966.1:c.1174-217G>A, 2004511, rs2004511, NW_004504305.1:g.49536C>T, XM_011547751.1:c.958-217A>G, NT_187682.1:g.49550T>C, XM_011547751.1:c.958-217G>A, XM_011529971.1:c.1030-217G>A, XM_011529971.1:c.1030-217A>G, XM_011529972.1:c.*396A>G, XM_011529972.1:c.*396G>A, NW_009646208.1:g.12775C=, XM_011548819.1:c.*517A>G, XM_011548819.1:c.*517G>A, NG_008376.3:g.7783A>C, NW_009646208.1:g.12775C>T, NC_000022.11:g.42127209T>A, NG_008376.3:g.7783=, NC_000022.11:g.42127209T>G, NC_000022.11:g.42127209T>C, rs28717037, NG_008376.3:g.7783A=, XM_011547750.1:c.1030-217A>G, XM_011547750.1:c.1030-217G>A, rs61291390, XM_011529967.1:c.1174-217A>G, XM_011529967.1:c.1174-217G>A, NC_000022.10:g.42523211T>G, NC_000022.11:g.42127209T=, NC_000022.10:g.42523211T>C, NC_000022.10:g.42523211T>A, XM_011529969.1:c.1030-217A>G, XM_011529969.1:c.1030-217G>A, XM_005278354.3:c.874-217A>G, XM_005278354.3:c.874-217G>A, XM_005278354.1:c.874-217A>G, XM_005278354.1:c.874-217G>A, NC_000022.10:g.42523211T=, XM_011547541.1:c.*517A>G, XM_011547541.1:c.*517G>A, NM_000106.5:c.1174-217A>G, NM_000106.5:c.1174-217G>A, NC_000022.10:g.42523211=, XM_011529968.1:c.1174-217A>G, XM_011529968.1:c.1174-217G>A, NM_001025161.2:c.1021-217A>G, NM_001025161.2:c.1021-217G>A, 28717037, 61291390, NG_008376.4:g.8602A>T, NG_008376.3:g.7783A>T, NT_187682.1:g.49550T=, NG_008376.4:g.8602A>G, NG_008376.4:g.8602=, NW_004504305.1:g.49536C=, NC_000022.11:g.42127209=, NG_008376.4:g.8602A>C, XR_952745.1:n.2189-217A>G, XR_952745.1:n.2189-217G>A +PA166290047 rs200458614 PA123 CYP2B6 NC_000019.10:41012466 2 0 0 0 0 NP_000758.1:p.Arg378Gln, rs200458614, 200458614, NG_007929.1:g.26168G>A, NC_000019.9:g.41518371G>A, NC_000019.10:g.41012466=, NC_000019.10:g.41012466G>A, NP_000758.1:p.Arg378=, NC_000019.9:g.41518371=, NG_007929.1:g.26168= +PA166262004 rs200554095 PA121 CYP2A6 NC_000019.10:40849980 1 1 0 0 0 NP_000753.3:p.Ile61Phe, rs200554095, NC_000019.10:g.40849980=, NC_000019.9:g.41355885T>A, NC_000019.10:g.40849980T>A, NC_000019.9:g.41355885T>G, NG_008377.1:g.5468A>C, NC_000019.9:g.41355885=, NC_000019.10:g.40849980T>G, NP_000753.3:p.Ile61Leu, NP_000753.3:p.Ile61=, NG_008377.1:g.5468=, NG_008377.1:g.5468A>T, 200554095 +PA166159770 rs200562975 PA145 DPYD NC_000001.11:97721542 1 0 0 1 0 NC_000001.11:g.97721542T>C, NP_000101.2:p.Asn151=, NC_000001.10:g.98187098=, NG_008807.2:g.204518=, NP_000101.2:p.Asn151Asp, 200562975, NG_008807.2:g.204518A>G, NC_000001.11:g.97721542=, NC_000001.10:g.98187098T>C, rs200562975 +PA166157233 rs200591577 PA356 TPMT NC_000006.12:18147851 10 6 6 0 0 NP_000358.1:p.Leu69Val, XM_011514839.1:c.205C>G, NP_000358.1:p.Leu69=, NG_012137.2:g.12293C>G, NC_000006.12:g.18147851=, NC_000006.11:g.18148082G>A, NC_000006.11:g.18148082G>C, NG_012137.2:g.12293=, NC_000006.12:g.18147851G>C, NM_000367.3:c.205C>G, NC_000006.12:g.18147851G>A, NG_012137.2:g.12293C>T, NP_000358.1:p.Leu69Phe, XP_011513141.1:p.Leu69Val, XP_011513142.1:p.Leu46Val, 200591577, rs200591577, XM_011514840.1:c.136C>G, NC_000006.11:g.18148082= +PA166157005 rs2005976 PA27512 DTNBP1 NC_000006.12:15650571 1 0 0 0 0 NR_036448.1:n.489+742G>A, 2619527, NC_000006.11:g.15650802=, rs2619527, NM_001271669.1:c.56+12243G>A, NM_032122.4:c.161+742G>A, NG_009309.1:g.17470=, 2005976, NC_000006.11:g.15650802C>T, rs2005976, NC_000006.12:g.15650571C>T, NM_001271667.1:c.-83+742G>A, NM_183040.2:c.161+742G>A, XM_005249447.1:c.122+742G>A, NC_000006.12:g.15650571=, NG_009309.1:g.17470G>A, XM_005249447.3:c.122+742G>A, XM_011514936.1:c.71+1516G>A, NM_001271668.1:c.110+1516G>A +PA166257141 rs200643089 PA145 DPYD NC_000001.11:97234970 1 0 0 0 0 NC_000001.10:g.97700526=, NC_000001.11:g.97234970A>C, NG_008807.2:g.691090=, NP_000101.2:p.Leu775=, DPYD c.2324 T > G, 200643089, NC_000001.10:g.97700526A>C, NC_000001.11:g.97234970=, NG_008807.2:g.691090T>G, DPYD p.Leu775Trp, rs200643089, NP_000101.2:p.Leu775Trp +PA166153936 rs200687447 PA145 DPYD NC_000001.11:97193209 2 0 0 1 0 XP_005270618.1:p.Glu791Lys, 200687447, NC_000001.11:g.97193209=, NC_000001.10:g.97658765=, NC_000001.10:g.97658765C>G, NP_000101.2:p.Glu828Ter, NC_000001.10:g.97658765C>T, NP_000101.2:p.Glu828=, NG_008807.2:g.732851G>A, NR_046590.1:n.65-72205C>G, NG_008807.2:g.732851G>C, XM_005270562.3:c.2266G>C, XP_005270619.2:p.Glu756Lys, XM_005270562.3:c.2266G>A, rs200687447, XM_005270562.1:c.2266G>C, XP_006710460.1:p.Glu828Gln, NP_000101.2:p.Glu828Lys, XM_005270562.1:c.2266G>A, NC_000001.10:g.97658765C>A, NC_000001.11:g.97193209C>A, XM_005270561.1:c.2371G>A, XP_005270619.1:p.Glu756Lys, XM_005270561.1:c.2371G>C, NC_000001.11:g.97193209C>G, XP_005270618.1:p.Glu791Gln, NC_000001.11:g.97193209C>T, NM_000110.3:c.2482G>A, NG_008807.2:g.732851=, NM_000110.3:c.2482G>C, XM_006710397.2:c.2482G>C, XM_006710397.2:c.2482G>A, XP_005270619.2:p.Glu756Gln, NR_046590.1:n.65-72205C>T, XP_005270619.1:p.Glu756Gln, NP_000101.2:p.Glu828Gln, XP_006710460.1:p.Glu828Lys, NG_008807.2:g.732851G>T +PA166319908 rs200693895 PA145 DPYD NC_000001.11:97573819 1 0 0 0 0 NC_000001.11:g.97573819=, NG_008807.2:g.352241=, rs200693895, 200693895, NC_000001.10:g.98039375=, NC_000001.10:g.98039375A>G, NP_000101.2:p.Val427=, NP_000101.2:p.Val427Ala, NG_008807.2:g.352241T>C, NC_000001.11:g.97573819A>G +PA166170232 rs200707504 PA107 CES1 NC_000016.10:55821399 3 1 0 0 0 NC_000016.9:g.55855311T>C, NG_012057.1:g.16765=, NP_001257.4:p.Glu220=, rs200707504, NC_000016.9:g.55855311=, 200707504, NC_000016.10:g.55821399=, NP_001257.4:p.Glu220Gly, NC_000016.10:g.55821399T>C, NG_012057.1:g.16765A>G +PA166319911 rs200709381 PA145 DPYD NC_000001.11:97573762 1 0 0 0 0 NP_000101.2:p.Lys446Thr, NG_008807.2:g.352298=, 200709381, NC_000001.10:g.98039318T>A, NP_000101.2:p.Lys446Ile, NC_000001.10:g.98039318T>G, NG_008807.2:g.352298A>C, rs200709381, NC_000001.11:g.97573762T>G, NC_000001.11:g.97573762T>A, NP_000101.2:p.Lys446=, NG_008807.2:g.352298A>T, NC_000001.10:g.98039318=, NC_000001.11:g.97573762= +PA166155658 rs2008584 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233728369 7 3 3 0 0 NM_019076.4:c.856-38665A>G, NC_000002.11:g.234637015A>G, NG_002601.2:g.143626A>G, NG_002601.2:g.143626=, NC_000002.12:g.233728369A>G, NM_001072.3:c.861+34504A>G, rs55772651, NM_019075.2:c.856-38665A>G, NC_000002.11:g.234637015=, NC_000002.12:g.233728369=, NM_019078.1:c.867+14511A>G, 55772651, 62191914, rs16849646, NM_007120.2:c.867+8682A>G, XR_241240.1:n.1022+34504A>G, rs60783229, NM_205862.1:c.60+34504A>G, 17869157, 16849646, NM_019077.2:c.856-38665A>G, rs62191914, 60783229, NM_019093.2:c.-758A>G, rs2008584, XR_241241.1:n.942-38665A>G, 2008584, XR_241238.1:n.923+8682A>G, NM_021027.2:c.856-38665A>G, rs17869157 +PA166268321 rs200858900 PA397 ABCC4 NC_000013.11:95186874 1 0 0 0 0 NG_050651.1:g.119573G>A, NG_050651.2:g.119573G>A, NC_000013.10:g.95839128=, rs200858900, NG_050651.2:g.119573=, 200858900, NC_000013.11:g.95186874=, NC_000013.11:g.95186874C>T, NG_050651.1:g.119573=, NP_005836.2:p.Val458=, NC_000013.10:g.95839128C>T, NP_005836.2:p.Val458Met +PA166154224 rs200965026 PA126 CYP2C9 NC_000010.11:94942249 3 1 1 0 0 XM_005269575.1:c.389C>T, rs200965026, NP_000762.2:p.Thr130=, NG_008385.2:g.9092C>T, NC_000010.11:g.94942249=, NG_008385.2:g.9092=, NC_000010.11:g.94942249C>G, NG_008385.1:g.8592C>T, NM_000771.3:c.389C>A, NP_000762.2:p.Thr130Met, NC_000010.11:g.94942249C>T, NP_000762.2:p.Thr130Lys, XM_005269575.1:c.389C>A, NC_000010.10:g.96702006C>A, XP_005269632.1:p.Thr130Lys, 200965026, NC_000010.10:g.96702006=, NG_008385.2:g.9092C>A, NC_000010.10:g.96702006C>T, NG_008385.1:g.8592C>A, NC_000010.11:g.94942249C>A, XP_005269632.1:p.Thr130Met, NM_000771.3:c.389C>T, NG_008385.1:g.8592= +PA166176037 rs2010156 PA37589 TSHZ2 NC_000020.11:53185593 1 0 0 0 0 NC_000020.11:g.53185593=, NC_000020.11:g.53185593T>C, NC_000020.10:g.51802132T>C, NC_000020.11:g.53185593T>A, NC_000020.10:g.51802132T>A, NC_000020.10:g.51802132T>G, NG_053184.1:g.218285=, NG_053184.1:g.218285T>C, NG_053184.1:g.218285T>A, NC_000020.11:g.53185593T>G, NG_053184.1:g.218285T>G, NC_000020.10:g.51802132=, 60459200, 2010156, rs2010156 +PA166159774 rs201018345 PA145 DPYD NC_000001.11:97593379 1 0 0 1 0 NG_008807.2:g.332681G>C, NC_000001.10:g.98058935C>G, NG_008807.2:g.332681G>A, NP_000101.2:p.Ala323Pro, NC_000001.11:g.97593379C>G, NP_000101.2:p.Ala323=, NC_000001.10:g.98058935=, 201018345, NC_000001.11:g.97593379=, NP_000101.2:p.Ala323Thr, NC_000001.10:g.98058935C>T, NG_008807.2:g.332681=, NC_000001.11:g.97593379C>T, rs201018345 +PA166159796 rs201035051 PA145 DPYD NC_000001.11:97098632 1 0 0 1 0 rs201035051, NG_008807.2:g.827428A>C, NC_000001.11:g.97098632T>G, NC_000001.10:g.97564188=, NG_008807.2:g.827428=, NC_000001.11:g.97098632=, NC_000001.10:g.97564188T>G, 201035051, NP_000101.2:p.Lys875=, NP_000101.2:p.Lys875Gln +PA166153937 rs201045130 PA31799 NT5C1A NC_000001.11:39659467 1 1 0 0 0 NM_032526.2:c.761T>C, rs201045130, 201045130, NC_000001.10:g.40125139=, NC_000001.10:g.40125139A>G, NC_000001.11:g.39659467=, NP_115915.1:p.Leu254=, NC_000001.11:g.39659467A>G, NP_115915.1:p.Leu254Pro +PA166170606 rs201052613 NC_000001.11:173026503_173026506 1 0 0 0 0 NC_000001.11:g.173026509dup, NC_000001.11:g.173026509del, NC_000001.11:g.173026503_173026509=, NC_000001.10:g.172995649del, rs201052613, NC_000001.10:g.172995643_172995649=, 201052613, NC_000001.10:g.172995649dup +PA166171202 rs201065375 PA107 CES1 NC_000016.10:55823575 2 0 0 0 0 NC_000016.10:g.55823575G>A, rs201065375, 201065375, NP_001257.4:p.Arg171Cys, NC_000016.10:g.55823575=, NC_000016.9:g.55857487G>A, NG_012057.1:g.14589=, NC_000016.9:g.55857487=, NG_012057.1:g.14589C>T, NP_001257.4:p.Arg171= +PA166154523 rs2010851 PA38104 WNT5B NC_000012.12:1647476 1 1 0 0 0 NM_032642.2:c.*1224C>A, NC_000012.11:g.1756642=, XM_005253793.1:c.*1224C>A, XM_005253794.1:c.*1224C>A, XM_011521026.1:c.*1224C>A, rs57028820, NM_030775.2:c.*1224C>A, NC_000012.11:g.1756642C>A, 57028820, NC_000012.12:g.1647476C>A, NC_000012.12:g.1647476=, NC_000012.12:g.1647476C>G, XM_005253792.1:c.*1224C>A, 2010851, rs2010851, NC_000012.11:g.1756642C>G +PA166184594 rs2010884 PA31945 OPRM1 NC_000006.12:154137072 1 0 0 0 0 NC_000006.11:g.154458207G>A, NG_021208.2:g.131572=, 60719647, NC_000006.12:g.154137072G>A, NG_021208.2:g.131572G>A, NC_000006.11:g.154458207=, 56521151, 2010884, NC_000006.12:g.154137072=, rs2010884 +PA166157006 rs2010963 PA37302 VEGFA NC_000006.12:43770613 24 5 0 0 0 NM_001171624.1:c.-634C>G, NM_001171626.1:c.-634C>G, NM_001317010.1:c.-634C>G, NM_001171623.1:c.-634C>G, NM_001171627.1:c.-634C>G, NM_001171628.1:c.-634C>G, NM_001025369.2:c.-94C>G, NM_001171629.1:c.-634C>G, 2010963, rs2010963, XM_005249363.1:c.-1507C>G, NC_000006.12:g.43770613=, NM_001204385.1:c.-94C>G, NM_003376.5:c.-94C>G, NC_000006.11:g.43738350C>G, NG_008732.1:g.5398C>G, NM_001033756.2:c.-94C>G, NG_008732.1:g.5398=, NM_001171622.1:c.-94C>G, NM_001171630.1:c.-634C>G, NM_001025370.2:c.-94C>G, NM_001025368.2:c.-94C>G, NC_000006.12:g.43770613C>G, NG_008732.1:g.5398C>T, NM_001025367.2:c.-94C>G, NC_000006.11:g.43738350C>T, NM_001204384.1:c.-634C>G, NC_000006.12:g.43770613C>T, NC_000006.11:g.43738350=, NM_001287044.1:c.-1507C>G, NM_001025366.2:c.-94C>G, NM_001171625.1:c.-634C>G +PA166208164 rs201132803 PA124 CYP2C19 NC_000010.11:94842909 1 0 0 0 0 NC_000010.11:g.94842909T>A, 201132803, NG_008384.3:g.85229T>A, NP_000760.1:p.Met345Lys, NC_000010.11:g.94842909=, NG_008384.3:g.85229=, NC_000010.10:g.96602666T>A, rs201132803, NP_000760.1:p.Met345=, NC_000010.10:g.96602666= +PA166155661 rs2011404 PA37174,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233719291 2 1 1 0 0 17633274, rs56712128, XR_241240.1:n.1022+25426T>C, NP_009051.1:p.Cys157Trp, NM_019076.4:c.856-47743T>C, NM_019077.2:c.855+36499T>C, NM_019078.1:c.867+5433T>C, NC_000002.11:g.234627937T>G, NG_002601.2:g.134548T>G, 56712128, NC_000002.11:g.234627937T>C, NG_002601.2:g.134548T>C, NM_205862.1:c.60+25426T>C, NP_009051.1:p.Cys157=, XR_241241.1:n.941+46502T>C, NG_002601.2:g.134548=, NC_000002.11:g.234627937=, XR_241238.1:n.527T>C, NM_001072.3:c.861+25426T>C, 17866660, rs17633274, NM_019075.2:c.856-47743T>C, NC_000002.12:g.233719291T>G, rs2011404, 2011404, NC_000002.12:g.233719291T>C, NM_007120.2:c.471T>C, NC_000002.12:g.233719291=, NM_021027.2:c.855+46502T>C, rs17866660 +PA166155662 rs2011425 PA37174,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233718962 30 3 1 0 0 NC_000002.12:g.233718962T>G, NM_019075.2:c.856-48072T>G, XR_241241.1:n.941+46173T>G, XR_241238.1:n.198T>G, NM_001072.3:c.861+25097T>G, NC_000002.11:g.234627608T>G, NP_009051.1:p.Leu48Met, NP_009051.1:p.Leu48Val, UGT1A4*3, NC_000002.11:g.234627608T>A, NG_002601.2:g.134219T>G, NM_007120.2:c.142T>G, NC_000002.12:g.233718962=, NM_019077.2:c.855+36170T>G, NC_000002.11:g.234627608=, NC_000002.12:g.233718962T>A, XR_241240.1:n.1022+25097T>G, NG_002601.2:g.134219=, rs17866635, 16849670, NM_205862.1:c.60+25097T>G, 58554624, rs58554624, NM_019078.1:c.867+5104T>G, 2011425, NG_002601.2:g.134219T>A, rs2011425, 17866635, NM_021027.2:c.855+46173T>G, NP_009051.1:p.Leu48=, NM_019076.4:c.856-48072T>G, rs16849670 +PA166319463 rs201268750 PA145 DPYD NC_000001.11:97079120 1 1 0 0 0 NC_000001.11:g.97079120=, NC_000001.10:g.97544676G>T, rs201268750, NP_000101.2:p.His978Gln, NG_008807.2:g.846940=, NC_000001.11:g.97079120G>T, NP_000101.2:p.His978=, 201268750, NC_000001.10:g.97544676=, NG_008807.2:g.846940C>A +PA166156703 rs201279313 PA142670904 SLC25A31 NC_000004.12:127735888_127735890 1 1 0 0 0 NM_031291.3:c.232+5109_232+5111del, NC_000004.12:g.127735888_127735890del, rs201279313, NC_000004.11:g.128657041_128657043delTTA, XM_011532297.1:c.232+5109_232+5111del, NM_001318467.1:c.232+5109_232+5111del, 201279313, NM_031291.3:c.232+5109_232+5111delTTA, NC_000004.11:g.128657041_128657045=, NC_000004.12:g.127735886_127735888delTTA, NC_000004.11:g.128657043_128657045del, NM_001318467.1:c.232+5109_232+5111delTTA, NC_000004.12:g.127735886_127735890=, XM_011532298.1:c.232+5109_232+5111del +PA166157693 rs201280871 PA146 DPYS NC_000008.11:104392834 1 0 0 0 0 rs201280871, XP_006716581.1:p.Arg448Ter, XP_011515205.1:p.Arg501Ter, NC_000008.10:g.105405062G>A, NC_000008.10:g.105405062=, NM_001385.2:c.1393C>T, NP_001376.1:p.Arg465=, XM_006716518.2:c.1342C>T, XM_005250818.1:c.1501C>T, NG_008840.1:g.79216=, NP_001376.1:p.Arg465Ter, XP_005250875.1:p.Arg501Ter, NG_008840.1:g.79216C>T, XM_005250818.2:c.1501C>T, NC_000008.11:g.104392834G>A, NG_008840.2:g.79216=, NG_008840.2:g.79216C>T, XM_011516903.1:c.1501C>T, NC_000008.11:g.104392834=, 201280871 +PA166176964 rs2013169 PA34045 PURA NC_000005.10:140118020 1 1 0 0 0 NC_000005.10:g.140118020=, NG_041813.1:g.8898=, NC_000005.9:g.139497605=, NC_000005.10:g.140118020T>A, NG_041813.1:g.8898T>A, rs2013169, NC_000005.9:g.139497605T>A, 59467924, 2013169 +PA166169449 rs2013249 PA24683 AKR7A3 NC_000001.11:19287570 1 0 0 0 0 NC_000001.11:g.19287570=, 58272988, NC_000001.10:g.19614064=, NC_000001.11:g.19287570G>C, NC_000001.10:g.19614064G>C, NC_000001.10:g.19614064G>T, NC_000001.11:g.19287570G>T, NC_000001.11:g.19287570G>A, NC_000001.10:g.19614064G>A, rs2013249, 2013249 +PA166209222 rs201376588 PA35 ADRA2A NC_000010.11:111078003 1 1 0 0 0 rs201376588, NC_000010.11:g.111078003=, NC_000010.10:g.112837761C>T, NG_012020.1:g.5972C>T, NC_000010.11:g.111078003C>T, 201376588, NP_000672.3:p.Arg3Cys, NP_000672.3:p.Arg3=, NG_012020.1:g.5972=, NC_000010.10:g.112837761= +PA166156221 rs201377835 PA128 CYP2D6 NC_000022.11:42129910 6 2 2 0 0 NC_000022.10:g.42525912=, NW_009646208.1:g.15476C>G, XM_011547750.1:c.38-1G>C, XM_011548819.1:c.-672G>C, XR_952745.1:n.1338-1G>C, NG_008376.3:g.5082G>C, NG_008376.3:g.5082=, NC_000022.10:g.42525912C>G, XM_005278354.1:c.-672G>C, 201377835, XR_430455.2:n.40C>G, NT_187682.1:g.52251C>G, NW_004504305.1:g.52237C>G, rs201377835, NM_000106.5:c.181-1G>C, XM_005278354.3:c.-672G>C, XM_011547756.1:c.-125C>G, XM_011529969.1:c.38-1G>C, NC_000022.11:g.42129910=, XM_011529970.1:c.181-1G>C, XM_011529972.1:c.181-1G>C, NG_008376.4:g.5901G>C, NG_008376.4:g.5901=, NC_000022.11:g.42129910C>G, NM_001025161.2:c.181-1G>C, XM_005278353.1:c.181-1G>C, XM_011547541.1:c.-672G>C, XM_011529971.1:c.38-1G>C, XM_011547751.1:c.-332G>C, XM_011529966.1:c.181-1G>C, XM_011529968.1:c.181-1G>C, XM_011529967.1:c.181-1G>C +PA166304883 rs201379188 PA27112 CYP2J2 NC_000001.11:59893824 1 0 0 0 0 NG_007931.1:g.37928=, NP_000766.2:p.Arg446Trp, NG_007931.1:g.37928C>T, NP_000766.2:p.Arg446=, rs201379188, NC_000001.11:g.59893824=, NC_000001.11:g.59893824G>A, NC_000001.10:g.60359496=, NC_000001.10:g.60359496G>A, 201379188 +PA166319942 rs201433243 PA145 DPYD NC_000001.11:97450099 1 0 0 0 0 NP_000101.2:p.Cys622Tyr, NC_000001.11:g.97450099=, NG_008807.2:g.475961G>A, NP_000101.2:p.Cys622=, NG_008807.2:g.475961=, NG_008807.2:g.475961G>C, NC_000001.10:g.97915655C>T, NC_000001.11:g.97450099C>T, NP_000101.2:p.Cys622Ser, rs201433243, NC_000001.10:g.97915655=, 201433243, NC_000001.11:g.97450099C>G, NC_000001.10:g.97915655C>G +PA166268447 rs201441480 PA134942730,PA25824 KRTAP10-4,TSPEAR NC_000021.9:44574731 1 1 0 0 0 rs201441480, NC_000021.9:g.44574731C>A, NG_033806.1:g.141848G>T, NC_000021.9:g.44574731C>G, NC_000021.8:g.45994608C>G, NP_941960.2:p.Pro325=, NC_000021.8:g.45994608=, NC_000021.8:g.45994608C>A, NP_941960.2:p.Pro325Ala, 201441480, NG_033806.1:g.141848G>C, NG_033806.1:g.141848=, NC_000021.9:g.44574731=, NP_941960.2:p.Pro325Thr +PA166309304 rs201469165 PA35076 HLA-DRB5 NC_000006.12:32522112 1 0 0 0 0 NG_002432.1:g.69380A>T, NC_000006.12:g.32522112A>C, NP_002116.2:p.Phe55Val, NC_000006.11:g.32489889A>T, NP_002116.2:p.Phe55Leu, NC_000006.12:g.32522112A>G, rs201469165, NC_000006.11:g.32489889=, NG_002392.2:g.65417A>G, NP_002116.2:p.Phe55Ile, NG_002392.2:g.65417A>C, NC_000006.12:g.32522112A>T, NC_000006.11:g.32489889A>C, NG_002432.1:g.69380A>C, NC_000006.11:g.32489889A>G, NG_002432.1:g.69380=, NC_000006.12:g.32522112=, 201469165, NP_002116.2:p.Phe55=, NG_002392.2:g.65417=, NG_002392.2:g.65417A>T, NG_002432.1:g.69380A>G +PA166290048 rs201500445 PA123 CYP2B6 NC_000019.10:41012471 2 0 0 0 0 201500445, NC_000019.10:g.41012471T>C, NC_000019.9:g.41518376T>C, NG_007929.1:g.26173=, NC_000019.10:g.41012471=, NC_000019.9:g.41518376=, NG_007929.1:g.26173T>C, rs201500445, NP_000758.1:p.Tyr380His, NP_000758.1:p.Tyr380= +PA166208142 rs201509150 PA124 CYP2C19 NC_000010.11:94842923 1 0 0 0 0 NG_008384.3:g.85243=, NG_008384.3:g.85243G>A, NP_000760.1:p.Ala350=, NC_000010.10:g.96602680G>A, 201509150, NC_000010.10:g.96602680=, NP_000760.1:p.Ala350Thr, rs201509150, NC_000010.11:g.94842923G>A, NC_000010.11:g.94842923= +PA166157248 rs201522 PA162382924 CUX1 NC_000007.14:102128266 1 0 0 0 0 XM_005250153.1:c.659+12993G>A, NG_029476.2:g.317363=, NM_001913.4:c.707+12993G>A, NW_003571037.1:g.52596G>A, NM_001202543.1:c.707+12993G>A, NM_181552.3:c.674+12993G>A, NM_001202546.2:c.596+12993G>A, NC_000007.14:g.102128266G>A, rs10363279, 17497087, XM_005250151.1:c.974+12993G>A, NC_000007.13:g.101771546=, 59204495, XM_005250150.1:c.974+12993G>A, XM_011515823.1:c.974+12993G>A, XM_011515824.1:c.974+12993G>A, NG_029476.2:g.317363G>A, XM_005250154.1:c.974+12993G>A, XM_006715855.1:c.974+12993G>A, rs59204495, NM_181500.3:c.707+12993G>A, 1637280, 10363279, rs1637280, rs201522, NC_000007.13:g.101771546G>A, XM_011515825.1:c.707+12993G>A, XM_005250152.1:c.926+12993G>A, NM_001202545.2:c.569+12993G>A, XM_006715856.2:c.707+12993G>A, XM_006715854.1:c.974+12993G>A, NC_000007.14:g.102128266=, 201522, NM_001202544.2:c.659+12993G>A, XM_005250155.1:c.749+12993G>A, XM_005250154.3:c.974+12993G>A, rs17497087 +PA166159787 rs201615754 PA145 DPYD NC_000001.11:97515784 1 0 0 1 0 NC_000001.11:g.97515784C>A, rs201615754, NC_000001.11:g.97515784=, NC_000001.10:g.97981340C>A, NG_008807.2:g.410276G>A, NG_008807.2:g.410276=, NP_000101.2:p.Arg561Leu, NC_000001.10:g.97981340=, NP_000101.2:p.Arg561=, NC_000001.11:g.97515784C>T, NC_000001.10:g.97981340C>T, 201615754, NG_008807.2:g.410276G>T, NP_000101.2:p.Arg561Gln +PA166154872 rs2016347 PA29698 IGF1R NC_000015.10:98960571 1 0 0 0 0 XM_011521514.1:c.*2643G>T, rs17714510, NC_000015.10:g.98960571=, NC_000015.9:g.99503800G>C, NC_000015.9:g.99503800G>A, NC_000015.10:g.98960571G>T, 17714510, XM_005254897.1:c.*3129G>T, NC_000015.9:g.99503800G>T, NG_009492.1:g.316040G>T, XM_005254896.1:c.*3129G>T, NC_000015.9:g.99503800=, rs2016347, 2016347, XM_011521517.1:c.*3129G>T, NM_001291858.1:c.*3129G>T, XM_011521513.1:c.*3129G>T, rs3825953, 3825953, NG_009492.1:g.316040=, NG_009492.1:g.316040G>C, XM_011521516.1:c.*3129G>T, NG_009492.1:g.316040G>A, XM_011521515.1:c.*3129G>T, NC_000015.10:g.98960571G>A, NC_000015.10:g.98960571G>C, NM_000875.4:c.*3129G>T +PA166319881 rs201648613 PA145 DPYD NC_000001.11:97573967 1 0 0 0 0 NG_008807.2:g.352093G>T, NC_000001.10:g.98039523C>G, NP_000101.2:p.Glu378Gln, rs201648613, NP_000101.2:p.Glu378=, NC_000001.10:g.98039523C>A, NC_000001.11:g.97573967C>T, NP_000101.2:p.Glu378Ter, NG_008807.2:g.352093G>C, NG_008807.2:g.352093G>A, 201648613, NP_000101.2:p.Glu378Lys, NC_000001.11:g.97573967C>A, NC_000001.11:g.97573967=, NC_000001.11:g.97573967C>G, NC_000001.10:g.98039523C>T, NG_008807.2:g.352093=, NC_000001.10:g.98039523= +PA166157007 rs2016520 PA33557 PPARD NC_000006.12:35411001 2 2 0 0 0 NC_000006.12:g.35411001=, rs2016520, XM_011514710.1:c.-87C>T, NG_012345.2:g.73444C>A, XM_005249192.1:c.-87C>T, NG_012345.2:g.73444=, XM_011514707.1:c.-87C>T, XM_011514713.1:c.-87C>T, NC_000006.11:g.35378778=, NC_000006.12:g.35411001C>T, rs17847868, XM_006715120.1:c.-87C>T, NG_012345.2:g.73444C>T, 17847868, NC_000006.12:g.35411001C>A, NM_001171820.1:c.-87C>T, XM_005249191.1:c.-87C>T, 60471661, NM_001171818.1:c.-87C>T, XM_011514708.1:c.-87C>T, 2016520, NC_000006.11:g.35378778C>A, XM_006715123.1:c.-87C>T, XM_006715121.1:c.-87C>T, NG_012345.1:g.73444C>T, rs60471661, XM_011514709.1:c.-87C>T, XM_011514711.1:c.-87C>T, NM_006238.4:c.-87C>T, NC_000006.11:g.35378778C>T, NM_001171819.1:c.14-9126C>T, NM_177435.2:c.-87C>T, NG_012345.1:g.73444=, XM_005249194.1:c.-87C>T, NG_012345.1:g.73444C>A, XM_005249193.1:c.-87C>T, XM_011514712.1:c.-87C>T +PA166156337 rs2016848 PA30864 MME NC_000003.12:155140896 1 1 0 0 0 NG_051105.1:g.121773G>T, NM_007288.2:c.957+604G>A, XM_011512856.1:c.957+604G>A, rs13098610, XM_011512857.1:c.957+604G>A, rs57844319, NM_000902.3:c.957+604G>A, NG_051105.1:g.121773=, NC_000003.12:g.155140896G>T, rs2016848, XM_011512858.1:c.957+604G>A, 2016848, 13098610, NM_007287.2:c.957+604G>A, 57844319, XM_006713646.2:c.957+604G>A, NC_000003.12:g.155140896G>C, NC_000003.12:g.155140896G>A, NC_000003.11:g.154858685G>T, NM_007289.2:c.957+604G>A, NC_000003.11:g.154858685G>A, NC_000003.12:g.155140896=, NC_000003.11:g.154858685=, NC_000003.11:g.154858685G>C, NG_051105.1:g.121773G>C, XM_011512855.1:c.957+604G>A, NG_051105.1:g.121773G>A, XM_006713647.2:c.957+604G>A +PA166394983 rs201759207 PA109 CFTR NC_000007.14:117603644 0 0 0 0 1 NC_000007.14:g.117603644G>A, NC_000007.14:g.117603644G>C, NP_000483.3:p.Asp924Asn, NP_000483.3:p.Asp924=, rs201759207, NC_000007.13:g.117243698G>A, NC_000007.13:g.117243698G>C, NG_016465.4:g.142861G>C, NG_016465.4:g.142861G>A, NC_000007.13:g.117243698=, NC_000007.14:g.117603644=, 201759207, NC_000007.14:g.117603644G>T, NC_000007.13:g.117243698G>T, NP_000483.3:p.Asp924Tyr, NG_016465.4:g.142861G>T, NP_000483.3:p.Asp924His, NG_016465.4:g.142861= +PA166319829 rs201785202 PA145 DPYD NC_000001.11:97593226 1 0 0 0 0 NG_008807.2:g.332834C>T, NP_000101.2:p.Pro374Ser, NP_000101.2:p.Pro374=, NC_000001.10:g.98058782G>A, NG_008807.2:g.332834=, NC_000001.10:g.98058782G>C, NG_008807.2:g.332834C>G, NC_000001.11:g.97593226=, NC_000001.11:g.97593226G>A, rs201785202, NC_000001.11:g.97593226G>C, 201785202, NP_000101.2:p.Pro374Ala, NC_000001.10:g.98058782= +PA166320381 rs2017869 PA28662 GGT1 NC_000022.11:24601342 1 0 0 0 0 17575011, NC_000022.10:g.24997309G>C, NC_000022.10:g.24997309=, NC_000022.11:g.24601342G>C, NG_008111.1:g.22592G>T, NG_008111.1:g.22592=, rs2017869, 2017869, 58118344, NC_000022.11:g.24601342G>T, NC_000022.10:g.24997309G>T, NG_008111.1:g.22592G>C, 61719072, NC_000022.11:g.24601342= +PA166236822 rs201820739 PA25294 BCHE NC_000003.12:165830606 1 1 0 0 0 NG_009031.1:g.11860G>A, NP_000046.1:p.Gly143Asp, 201820739, NC_000003.11:g.165548394C>T, NG_009031.1:g.11860=, NC_000003.11:g.165548394=, NP_000046.1:p.Gly143=, rs201820739, NC_000003.12:g.165830606C>T, NC_000003.12:g.165830606= +PA166245582 rs201821708 PA130 CYP3A4 NC_000007.14:99763925 1 1 1 0 0 NG_054907.1:g.395=, NG_054907.1:g.395T>C, NP_059488.2:p.Tyr319Cys, NP_059488.2:p.Tyr319=, 201821708, NC_000007.14:g.99763925=, NC_000007.13:g.99361548=, NC_000007.13:g.99361548T>C, NG_008421.1:g.25261A>G, rs201821708, NC_000007.14:g.99763925T>C, NG_008421.1:g.25261= +PA166156532 rs2018417 PA24571 ADH1B NC_000004.12:99313983 1 0 0 0 0 NG_011435.1:g.12433=, NC_000004.11:g.100235140=, NP_001273579.1:p.Ala182=, 17853136, NC_000004.12:g.99313983=, rs60364763, NC_000004.12:g.99313983C>A, NG_011435.1:g.12433G>A, NC_000004.11:g.100235140C>A, NP_000659.2:p.Ala222=, rs17853136, XM_005262730.1:c.546G>T, NC_000004.12:g.99313983C>T, NM_000668.5:c.666G>T, XP_005262787.1:p.Ala182=, rs2018417, 2018417, NG_011435.1:g.12433G>T, NC_000004.11:g.100235140C>T, NM_001286650.1:c.546G>T, 60364763 +PA166157315 rs2018683 NC_000007.14:28974579 2 0 0 0 0 NC_000007.14:g.28974579G>T, 2018683, NC_000007.13:g.29014195G>T, rs2018683, NC_000007.14:g.28974579G>A, rs59311291, 59311291, NC_000007.14:g.28974579=, rs56487635, NC_000007.13:g.29014195G>A, 56487635, NC_000007.13:g.29014195= +PA166181039 rs201929247 PA35072 HLA-DRB1 NC_000006.12:32581811 1 1 0 0 0 NC_000006.12:g.32581811G>A, NC_000006.12:g.32581811=, NP_002115.2:p.Ser133Leu, NG_002432.1:g.129079G>A, NG_002433.1:g.134141G>A, 201929247, NG_002433.1:g.134141=, NC_000006.11:g.32549588=, NP_002115.2:p.Ser133=, NG_002392.2:g.126942=, NC_000006.11:g.32549588G>A, rs201929247, NG_002392.2:g.126942G>A, NG_029921.1:g.15716=, NG_029921.1:g.15716C>T, NG_002432.1:g.129079= +PA166394721 rs201958172 PA109 CFTR NC_000007.14:117530983 0 0 0 0 1 NC_000007.14:g.117530983G>C, NC_000007.13:g.117171037G>T, rs201958172, NC_000007.14:g.117530983G>A, NP_000483.3:p.Ala120Ser, NP_000483.3:p.Ala120Pro, NG_016465.4:g.70200G>A, NC_000007.14:g.117530983=, NG_016465.4:g.70200G>C, NC_000007.13:g.117171037=, NC_000007.13:g.117171037G>A, NG_016465.4:g.70200=, 201958172, NC_000007.14:g.117530983G>T, NC_000007.13:g.117171037G>C, NP_000483.3:p.Ala120=, NP_000483.3:p.Ala120Thr, NG_016465.4:g.70200G>T +PA166155026 rs2019604 PA34670,PA36067 RPL13,SPG7 NC_000016.10:89549357 2 1 0 0 0 NG_008082.1:g.45961T>A, NC_000016.9:g.89615765=, rs17783931, rs74251519, NG_008082.1:g.45961=, NC_000016.10:g.89549357=, XM_006721264.2:c.1664-1137T>G, rs57996679, NM_003119.3:c.1664-1137T>G, NC_000016.9:g.89615765T>G, rs3888234, 57996679, NC_000016.10:g.89549357T>A, 3888234, 17783931, 74251519, NC_000016.10:g.89549357T>G, NG_008082.1:g.45961T>G, XM_005256320.1:c.-21+2427T>G, 2019604, NC_000016.9:g.89615765T>A, rs2019604 +PA166171212 rs202001817 PA107 CES1 NC_000016.10:55819569 2 0 0 0 0 202001817, NP_001257.4:p.Thr290Met, NC_000016.9:g.55853481=, NC_000016.10:g.55819569=, NG_012057.1:g.18595=, rs202001817, NC_000016.10:g.55819569G>A, NG_012057.1:g.18595C>T, NC_000016.9:g.55853481G>A, NP_001257.4:p.Thr290= +PA166153661 rs2020870 PA164741534 FMO2 NC_000001.11:171185820 1 0 0 0 0 NM_001460.4:c.107A>G, 2020870, 2266712, 58458262, NC_000001.10:g.171154959A>G, XR_426768.2:n.224A>G, XR_921761.1:n.224A>G, rs2266712, rs2020870, NM_001301347.1:c.-386+461A>G, NP_001451.2:p.Asp36Gly, NP_001451.2:p.Asp36=, 52821140, XM_005245039.1:c.107A>G, NC_000001.11:g.171185820=, rs58458262, NC_000001.10:g.171154959=, XR_922278.1:n.508-17632T>C, NC_000001.11:g.171185820A>G, rs52821140, XP_005245096.1:p.Asp36Gly +PA166156083 rs2020917 PA117,PA38302 COMT,TXNRD2 NC_000022.11:19941361 3 0 0 0 0 NG_011526.1:g.4622=, NC_000022.11:g.19941361=, NM_006440.4:c.103+340G>A, NM_001282512.1:c.103+340G>A, XM_005261216.1:c.103+340G>A, NC_000022.11:g.19941361C>T, NM_006440.3:c.103+340G>A, XM_005261229.1:c.-922C>T, XM_011529891.1:c.-1200C>T, NG_011526.1:g.4622C>T, NM_000754.3:c.-628C>T, XM_005261214.1:c.103+340G>A, XM_011529887.1:c.-628C>T, NG_011835.1:g.5476G>A, 2020917, XM_005261217.1:c.103+340G>A, NC_000022.10:g.19928884=, rs2020917, XM_011529890.1:c.-922C>T, NC_000022.10:g.19928884C>T, NG_011835.1:g.5476= +PA166155197 rs2020933 PA312 SLC6A4 NC_000017.11:30234737 1 0 0 0 0 NC_000017.10:g.28561755A>T, NG_011747.2:g.6200T>A, NM_001045.5:c.-221+876T>A, rs2020933, XM_005258025.1:c.-95+876T>A, NC_000017.11:g.30234737=, NC_000017.10:g.28561755=, 2020933, 58019660, NC_000017.11:g.30234737A>T, NG_011747.2:g.6200=, rs58019660 +PA166171207 rs202121317 PA107 CES1 NC_000016.10:55823613 2 0 0 0 0 NG_012057.1:g.14551=, NP_001257.4:p.Ala158=, NG_012057.1:g.14551C>G, NC_000016.10:g.55823613=, rs202121317, NC_000016.9:g.55857525G>A, NC_000016.9:g.55857525G>C, NP_001257.4:p.Ala158Val, NC_000016.10:g.55823613G>C, NG_012057.1:g.14551C>T, NC_000016.10:g.55823613G>A, NC_000016.9:g.55857525=, 202121317, NP_001257.4:p.Ala158Gly +PA166159800 rs202144771 PA145 DPYD NC_000001.11:97079077 1 0 0 1 0 NG_008807.2:g.846983C>T, NC_000001.10:g.97544633=, 202144771, NC_000001.10:g.97544633G>A, rs202144771, NG_008807.2:g.846983=, NC_000001.11:g.97079077=, NP_000101.2:p.Leu993Phe, NC_000001.11:g.97079077G>A, NP_000101.2:p.Leu993= +PA166164956 rs202179988 PA109 CFTR NC_000007.14:117611649 1 1 0 1 4 NG_016465.4:g.150866C>T, NP_000483.3:p.Arg1070Trp, NG_056128.1:g.4703=, NG_056128.1:g.4703C>T, NG_016465.4:g.150866=, NG_056128.2:g.4703C>T, NC_000007.14:g.117611649=, NC_000007.13:g.117251703=, NC_000007.14:g.117611649C>T, 202179988, NG_056128.2:g.4703=, NP_000483.3:p.Arg1070=, rs202179988, NC_000007.13:g.117251703C>T +PA166307501 rs202192122 PA390 ABCG2 NC_000004.12:88099377 1 0 0 0 0 rs202192122, NC_000004.12:g.88099377G>A, NG_032067.2:g.136946C>T, NP_004818.2:p.Pro480=, 202192122, NC_000004.12:g.88099377=, NC_000004.11:g.89020529=, NP_004818.2:p.Pro480Leu, NC_000004.11:g.89020529G>A, NG_032067.2:g.136946= +PA166181377 rs202201137 PA126 CYP2C9 NC_000010.11:94988925 2 0 0 0 0 NC_000010.11:g.94988925A>G, NG_008385.1:g.55268=, NC_000010.10:g.96748682=, NG_008385.2:g.55768A>G, rs202201137, NC_000010.10:g.96748682A>G, NP_000762.2:p.Asn457Ser, NG_008385.2:g.55768=, NC_000010.11:g.94988925=, NP_000762.2:p.Asn457=, 202201137, NG_008385.1:g.55268A>G +PA166319948 rs202212118 PA145 DPYD NC_000001.11:97306285 1 0 0 0 0 NC_000001.11:g.97306285=, NC_000001.11:g.97306285C>T, NG_008807.2:g.619775=, rs202212118, NG_008807.2:g.619775G>T, NC_000001.10:g.97771841C>A, 202212118, NC_000001.10:g.97771841C>T, NC_000001.11:g.97306285C>A, NP_000101.2:p.Val691=, NC_000001.10:g.97771841=, NP_000101.2:p.Val691Leu, NP_000101.2:p.Val691Met, NG_008807.2:g.619775G>A +PA166235801 rs2023239 PA26681 CNR1 NC_000006.12:88150763 1 1 0 0 0 rs2023239, 2023239, NC_000006.11:g.88860482=, NC_000006.12:g.88150763T>C, NC_000006.12:g.88150763=, NC_000006.11:g.88860482T>C +PA166179897 rs2024512 PA36302 TACR1 NC_000002.12:75198497 1 0 0 0 0 NG_029522.1:g.6023C>T, NC_000002.12:g.75198497G>A, NG_029522.1:g.6023=, 60324458, NC_000002.11:g.75425623=, NC_000002.11:g.75425623G>A, rs2024512, NC_000002.12:g.75198497=, 2024512 +PA166238104 rs2024627 PA28360 MTOR NC_000001.11:11238733 2 1 0 0 0 NG_033239.1:g.28819A>G, 2024627, rs2024627, NC_000001.10:g.11298790=, 61604224, NC_000001.11:g.11238733=, 17848581, NC_000001.10:g.11298790T>C, NG_033239.1:g.28819=, NC_000001.11:g.11238733T>C +PA166169891 rs2027701 NC_000018.10:57057964 2 1 0 0 0 NC_000018.9:g.54725195A>G, NC_000018.9:g.54725195A>T, 59818894, NC_000018.10:g.57057964=, NC_000018.10:g.57057964A>T, NC_000018.10:g.57057964A>G, NC_000018.9:g.54725195=, rs2027701, 2027701 +PA166177328 rs2029969 PA28587 GATA4 NC_000008.11:11747349 1 0 0 0 0 NC_000008.10:g.11604858=, NC_000008.11:g.11747349=, NG_008177.2:g.75431A>G, NC_000008.11:g.11747349A>G, 59187342, rs2029969, 2029969, NC_000008.10:g.11604858A>T, NC_000008.11:g.11747349A>T, NG_008177.2:g.75431=, NG_008177.2:g.75431A>T, 386553425, NC_000008.10:g.11604858A>G +PA166154348 rs2030324 PA31891 BDNF NC_000011.10:27705368 1 0 0 0 0 NC_000011.9:g.27726915A>G, NM_170731.4:c.3+16044T>C, 36211438, NM_001143806.1:c.-22+15061T>C, NM_170732.4:c.-22+14978T>C, NC_000011.9:g.27726915=, rs17244161, NM_001143805.1:c.-22+15276T>C, rs36211438, NC_000011.10:g.27705368A>G, NM_001143807.1:c.-22+14143T>C, 17244161, NG_011794.1:g.21691=, NG_011794.1:g.21691T>C, rs2030324, 2030324, NC_000011.10:g.27705368= +PA166153990 rs2031920 PA129,PA27535 CYP2E1,DUX1 NC_000010.11:133526341 32 4 1 0 0 NC_000010.10:g.135339845C>T, 3813868, NC_000010.11:g.133526341C>T, rs3813868, NC_000010.11:g.133526341=, NM_000773.3:c.-1055C>T, NG_008383.1:g.3979C>T, XM_005252665.1:c.-512C>T, NC_000010.10:g.135339845=, NG_055447.1:g.2791=, NG_008383.1:g.3979=, rs2031920, 2031920, NG_055447.1:g.2791C>T +PA166157316 rs2032582 PA267 ABCB1 NC_000007.14:87531302 370 48 0 0 0 10228331, G2677T, rs57135550, rs386553610, NM_000927.4:c.2677T>A, NM_000927.4:c.2677T>G, NC_000007.14:g.87531302=, NC_000007.13:g.87160618A>C, rs10228331, rs9641018, 9641018, 57135550, NP_000918.2:p.Ser893Ala, NP_000918.2:p.Ser893=, NC_000007.13:g.87160618A>T, rs2229106, NC_000007.14:g.87531302A>C, NG_011513.1:g.186947T>G, NP_000918.2:p.Ser893Thr, 2032582, 2229106, NG_011513.1:g.186947T>A, rs2032582, NC_000007.14:g.87531302A>T, 386553610, NG_011513.1:g.186947=, NC_000007.13:g.87160618= +PA166157317 rs2032583 PA267 ABCB1 NC_000007.14:87531245 10 1 0 0 0 NC_000007.13:g.87160561=, NG_011513.1:g.187004T>C, NM_000927.4:c.2685+49T>C, NG_011513.1:g.187004=, 58572471, rs386553611, rs2032583, 2032583, NC_000007.13:g.87160561A>G, 386553611, NC_000007.14:g.87531245=, NC_000007.14:g.87531245A>G, rs58572471 +PA166157318 rs2032588 PA267 ABCB1 NC_000007.14:87550127 1 0 0 0 0 NC_000007.14:g.87550127G>A, 56461052, 57258922, rs56461052, NC_000007.14:g.87550127=, NC_000007.13:g.87179443G>A, rs2032588, NC_000007.13:g.87179443=, NG_011513.1:g.168122C>T, rs57258922, NM_000927.4:c.1350+44C>T, NG_011513.1:g.168122=, 2032588 +PA166156338 rs2036373 PA134933118 ADIPOQ NC_000003.12:186852402 1 0 0 0 0 NG_044949.1:g.12493T>G, NG_021140.1:g.14729=, NR_046662.1:n.2927A>C, 58651489, rs2036373, NM_001177800.1:c.-8-649T>G, 2036373, NC_000003.11:g.186570191=, XM_011513324.1:c.-8-649T>G, NC_000003.11:g.186570191T>G, NC_000003.12:g.186852402T>G, 36219759, rs58651489, NG_021140.1:g.14729T>G, NC_000003.12:g.186852402=, NG_044949.1:g.12493=, rs36219759, NM_004797.3:c.-8-649T>G +PA166185387 rs2036527 NC_000015.10:78559273 4 3 0 0 0 rs2036527, 2036527, NC_000015.9:g.78851615G>A, NC_000015.10:g.78559273=, NC_000015.9:g.78851615=, NC_000015.10:g.78559273G>A +PA166155198 rs2036657 PA60 ARRB2 NC_000017.11:4721864 8 1 0 0 0 NM_001257328.1:c.*825G>A, NC_000017.10:g.4625159=, NM_001257330.1:c.*825G>A, NM_004313.3:c.*825G>A, XM_011523858.1:c.*825G>A, rs56655626, NC_000017.11:g.4721864G>A, NC_000017.10:g.4625159G>C, rs34772038, NC_000017.11:g.4721864G>C, XM_011523859.1:c.*825G>A, NC_000017.10:g.4625159G>A, NC_000017.11:g.4721864=, NM_001257331.1:c.*825G>A, NR_047516.1:n.2252G>A, NM_001257329.1:c.*931G>A, XM_006721520.1:c.*825G>A, 34772038, 56655626, rs2036657, NM_199004.1:c.*825G>A, XM_006721521.1:c.*825G>A, 2036657 +PA166157319 rs2037483 PA29564 HUS1 NC_000007.14:47965525 1 0 0 0 0 NR_037917.1:n.925-87C>T, rs3176607, NM_004507.3:c.761-87C>T, rs2037483, 2037483, NC_000007.14:g.47965525=, 3807141, rs3807141, XM_011515163.1:c.-1020C>T, NC_000007.13:g.48005122G>A, NC_000007.14:g.47965525G>A, 3176607, NC_000007.13:g.48005122= +PA166204601 rs2038067 PA33557 PPARD NC_000006.12:35406689 1 0 0 0 0 NG_012345.1:g.69132=, rs2038067, 2038067, 60675652, NC_000006.11:g.35374466=, NG_012345.2:g.69132=, NC_000006.12:g.35406689G>A, NG_012345.2:g.69132G>C, NC_000006.12:g.35406689G>C, NC_000006.12:g.35406689=, NG_012345.2:g.69132G>A, NG_012345.1:g.69132G>C, NC_000006.11:g.35374466G>C, NC_000006.11:g.35374466G>A, NG_012345.1:g.69132G>A +PA166184204 rs204047 PA31942 OPRD1 NC_000001.11:28818612 3 2 0 0 0 204047, NC_000001.11:g.28818612G>C, NC_000001.10:g.29145124=, NC_000001.11:g.28818612G>T, 60280671, NC_000001.10:g.29145124G>C, NC_000001.11:g.28818612=, NC_000001.10:g.29145124G>T, rs204047, 372602 +PA166184205 rs204055 PA31942 OPRD1 NC_000001.11:28832861 1 0 0 0 0 204055, NC_000001.10:g.29159373T>A, NC_000001.11:g.28832861T>C, 58994389, NC_000001.11:g.28832861T>A, rs204055, 440423, NC_000001.11:g.28832861=, NC_000001.10:g.29159373T>C, NC_000001.10:g.29159373= +PA166184214 rs204069 PA31942 OPRD1 NC_000001.11:28868306 1 0 0 0 0 204069, 60181330, 386554220, NC_000001.10:g.29194818=, NC_000001.11:g.28868306A>G, NC_000001.11:g.28868306=, 59840933, rs204069, NC_000001.10:g.29194818A>G +PA166184213 rs204076 PA31942 OPRD1 NC_000001.11:28863878 5 0 0 0 0 NC_000001.10:g.29190390=, NC_000001.11:g.28863878T>A, NC_000001.10:g.29190390T>A, 204076, NC_000001.11:g.28863878=, 61008075, rs204076, NC_000001.11:g.28863878T>C, NC_000001.10:g.29190390T>C, 416213, NC_000001.11:g.28863878T>G, NC_000001.10:g.29190390T>G +PA166163619 rs2041135 PA83,PA134889143 CACNA1C,DCP1B NC_000012.12:1992332 1 0 0 0 0 rs2041135, NG_008801.2:g.26547T>C, NC_000012.11:g.2101498=, NG_008801.2:g.26547=, 2041135, NC_000012.12:g.1992332T>C, NC_000012.12:g.1992332=, NC_000012.11:g.2101498T>C +PA166160079 rs2041362 PA38657 GLCCI1 NC_000007.14:8004853 1 0 0 0 0 2041362, NC_000007.14:g.8004853G>T, NC_000007.14:g.8004853=, 60552110, rs2041362, 386554256, NC_000007.13:g.8044483G>T, NG_032073.1:g.41110=, NG_032073.1:g.41110G>T, 16872353, NC_000007.13:g.8044483= +PA166153559 rs20417 PA293 PTGS2 NC_000001.11:186681189 17 3 0 0 0 rs20417, NR_125801.1:n.536C>G, NC_000001.11:g.186681189=, NC_000001.11:g.186681189C>T, NG_028206.2:g.4239G>A, NC_000001.10:g.186650321C>G, NG_028206.2:g.4239G>C, rs11567816, 11567816, NG_028206.2:g.4239=, 20417, NC_000001.10:g.186650321=, NC_000001.10:g.186650321C>T, NM_000963.3:c.-899G>C, NC_000001.11:g.186681189C>G +PA166157741 rs2043144 PA38271 TRPM3 NC_000009.12:71336039 1 0 0 0 0 2043144, 59675039, XM_005252218.1:c.183+110614A>G, XM_011519040.1:c.183+110614A>G, rs2043144, XM_005252223.1:c.183+110614A>G, NG_047197.1:g.115886A>C, XM_005252228.1:c.183+110614A>G, XM_011519043.1:c.183+110614A>G, NG_047197.1:g.115886A>G, XM_005252232.1:c.183+110614A>G, NC_000009.12:g.71336039=, XM_005252229.1:c.183+110614A>G, NC_000009.11:g.73950955T>A, NG_047197.1:g.115886=, NG_047197.1:g.115886A>T, NC_000009.12:g.71336039T>G, NC_000009.11:g.73950955T>C, NC_000009.12:g.71336039T>A, NC_000009.12:g.71336039T>C, NC_000009.11:g.73950955T>G, XM_011519045.1:c.183+110614A>G, XM_011519035.1:c.183+110614A>G, XM_011519042.1:c.183+110614A>G, rs59675039, XM_005252224.1:c.183+110614A>G, NC_000009.11:g.73950955= +PA166305763 rs2043211 PA134916154 CARD8 NC_000019.10:48234449 1 0 0 0 0 rs2043211, 2043211, NC_000019.10:g.48234449=, NC_000019.9:g.48737706=, NC_000019.9:g.48737706A>T, 59690382, NG_029574.2:g.26821T>A, NP_055774.2:p.Phe52=, NC_000019.10:g.48234449A>T, NP_055774.2:p.Phe52Ile, NG_029574.2:g.26821=, 59257314 +PA166156905 rs20455 PA134920075 KIF6 NC_000006.12:39357302 17 4 0 0 0 20455, NC_000006.12:g.39357302A>G, 58306844, XP_011512660.1:p.Trp719Arg, NM_001289021.1:c.1987T>C, XM_011514359.1:c.2155T>C, XM_005248905.1:c.2104T>C, NP_001275953.1:p.Trp170Arg, XM_011514358.1:c.2155T>C, NP_001275950.1:p.Trp663Arg, XM_011514357.1:c.2155T>C, NG_054928.1:g.373123T>C, XP_005248962.1:p.Trp702Arg, NM_145027.4:c.2155T>C, NG_054928.1:g.373123=, XP_005248963.1:p.Trp663Arg, XP_011512662.1:p.Trp510Arg, NP_001275949.1:p.Trp702Arg, XM_005248906.1:c.1987T>C, NM_001289024.1:c.508T>C, NM_001289020.1:c.2104T>C, XM_011514360.1:c.1528T>C, rs16891985, XP_005248961.1:p.Trp719Arg, rs20455, rs58306844, rs56572561, NC_000006.12:g.39357302=, XP_011512661.1:p.Trp719Arg, XM_005248904.3:c.2155T>C, XP_011512659.1:p.Trp719Arg, XM_005248904.1:c.2155T>C, 16891985, NC_000006.11:g.39325078A>G, NP_659464.3:p.Trp719=, NP_659464.3:p.Trp719Arg, NC_000006.11:g.39325078=, 56572561 +PA166156339 rs2046934 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151339854 30 2 0 0 0 XM_011512398.1:c.46-10205G>A, NG_021244.1:g.257967G>C, NM_053002.5:c.2146-10205G>A, XM_011512386.1:c.2251-10205G>A, NG_016019.1:g.49903C>T, XM_011512394.1:c.2251-10205G>A, XM_011512399.1:c.2251-10205G>A, 2046934, NG_021244.1:g.257967=, rs2046934, NC_000003.12:g.151339854G>C, XM_011512390.1:c.2146-10205G>A, NG_016019.1:g.49903C>G, XM_011512392.1:c.1795-10205G>A, XM_006713487.2:c.2251-10205G>A, XM_011512395.1:c.2251-10205G>A, NG_021244.1:g.257967G>A, XM_011512388.1:c.2251-10205G>A, XM_011512389.1:c.2146-10205G>A, XM_011512396.1:c.676-10205G>A, rs59362541, NC_000003.11:g.151057642G>A, NG_016019.1:g.49903=, XM_011512391.1:c.1981-10205G>A, NC_000003.12:g.151339854G>A, NC_000003.11:g.151057642G>C, NC_000003.11:g.151057642=, XM_011512387.1:c.2251-10205G>A, NC_000003.12:g.151339854=, XM_005247096.1:c.2251-10205G>A, XM_011512393.1:c.2251-10205G>A, NM_022788.4:c.-15+742C>T, NM_176876.2:c.-15+742C>T, 59362541 +PA166171165 rs2048718 PA134906421 BRIP1 NC_000017.11:61863458 1 0 0 0 0 NC_000017.11:g.61863458=, 3809754, NC_000017.10:g.59940819C>A, NC_000017.11:g.61863458C>A, NG_007409.2:g.5102G>A, 2048718, rs2048718, NC_000017.11:g.61863458C>G, NC_000017.10:g.59940819C>G, NG_007409.2:g.5102G>C, NC_000017.10:g.59940819C>T, 57507881, NG_007409.2:g.5102=, NC_000017.11:g.61863458C>T, NG_007409.2:g.5102G>T, NC_000017.10:g.59940819= +PA166223221 rs2050011 PA37416 XPNPEP2 NC_000023.11:129737601 1 0 0 0 0 NC_000023.11:g.129737601G>C, NC_000023.10:g.128871578G>C, NC_000023.11:g.129737601G>A, NC_000023.10:g.128871578=, 58428293, NC_000023.11:g.129737601=, NG_011479.1:g.3633=, NG_011479.1:g.3633G>T, NC_000023.11:g.129737601G>T, NC_000023.10:g.128871578G>T, rs2050011, NG_011479.1:g.3633G>C, 2050011, NG_011479.1:g.3633G>A, NC_000023.10:g.128871578G>A +PA166156781 rs2053044 PA39 ADRB2 NC_000005.10:148825809 1 0 0 0 0 NC_000005.9:g.148205372A>G, NG_016421.2:g.4217A>G, rs36218056, NC_000005.9:g.148205372=, rs17287446, NC_000005.10:g.148825809=, NC_000005.9:g.148205372A>T, NG_016421.2:g.4217A>T, 17287446, NG_016421.1:g.4217=, 17287418, NG_016421.1:g.4217A>G, NC_000005.10:g.148825809A>T, NC_000005.10:g.148825809A>G, NG_016421.2:g.4217=, rs58513832, NM_000024.5:c.-1023A>G, rs2053044, 36218056, NG_016421.1:g.4217A>T, rs17287418, XM_005268382.1:c.-1023A>G, 58513832, 2053044, XM_005268383.1:c.-1023A>G +PA166203411 rs2053071 PA31602,PA35786 NFKBIB,SIRT2 NC_000019.10:38900291 2 1 0 0 0 NC_000019.9:g.39390931=, 61008248, NC_000019.10:g.38900291C>G, NG_029624.1:g.5592C>G, NC_000019.9:g.39390931C>T, 2053071, 17884196, rs2053071, NC_000019.10:g.38900291C>T, NG_029624.1:g.5592=, NG_029624.1:g.5592C>T, NC_000019.10:g.38900291=, NC_000019.9:g.39390931C>G +PA166250084 rs2053098 PA35844 SLCO1B3 NC_000012.12:20883477 1 0 0 0 0 rs2053098, 2053098, NC_000012.11:g.21036411=, NG_032071.1:g.77774A>G, NC_000012.11:g.21036411A>G, NG_032071.1:g.77774=, 61685951, NC_000012.12:g.20883477A>G, NP_062818.1:p.Ala519=, NC_000012.12:g.20883477= +PA166156713 rs20541 PA199 IL13 NC_000005.10:132660272 1 0 0 0 0 NG_012090.1:g.7100A>G, 386555165, NM_002188.2:c.431A>G, NC_000005.10:g.132660272A>C, NG_012090.1:g.7100A>C, NC_000005.9:g.131995964=, rs20541, rs17772737, NG_012090.1:g.7100A>T, NC_000005.9:g.131995964A>G, 57467283, NC_000005.9:g.131995964A>T, NP_002179.2:p.Gln144Pro, rs17166139, 20541, NG_012090.1:g.7100=, 17772737, NP_002179.2:p.Gln144=, NP_002179.2:p.Gln144Arg, NC_000005.9:g.131995964A>C, 17166139, NP_002179.2:p.Gln144Leu, rs57467283, NC_000005.10:g.132660272=, rs386555165, NC_000005.10:g.132660272A>T, NC_000005.10:g.132660272A>G +PA166155378 rs2054675 PA123 CYP2B6 NC_000019.10:40989850 1 1 0 0 0 NG_007929.1:g.3552=, XM_011526548.1:c.-1456T>C, XM_005258570.1:c.-1456T>C, NG_055439.1:g.898=, NC_000019.9:g.41495755T>C, NG_007929.1:g.3552T>C, NC_000019.10:g.40989850T>C, XM_005258569.3:c.-1456T>C, XM_011526546.1:c.-1456T>C, XM_011526547.1:c.-1456T>C, XM_005258569.1:c.-1456T>C, 61672187, rs2054675, rs3760658, 2054675, XM_006723050.2:c.-1456T>C, NC_000019.9:g.41495755=, NM_000767.4:c.-1456T>C, rs61672187, 3760658, NC_000019.10:g.40989850=, NG_055439.1:g.898T>C +PA166156340 rs2056527 NC_000003.12:152990140 2 1 0 0 0 NC_000003.12:g.152990140=, NC_000003.11:g.152707929T>C, rs58134442, NC_000003.12:g.152990140T>C, NC_000003.11:g.152707929=, 58134442, NC_000003.11:g.152707929T>A, rs2056527, NC_000003.12:g.152990140T>A, 2056527 +PA166155974 rs20572 PA26121,PA25814 CBR1,SETD4 NC_000021.9:36072675 6 2 0 0 0 17228570, NC_000021.8:g.37444973=, 20572, NC_000021.9:g.36072675C>A, NP_001748.1:p.Ala209=, NR_040084.1:n.378-2190G>A, NC_000021.9:g.36072675C>T, NC_000021.8:g.37444973C>T, rs20572, NM_001286789.1:c.*736C>T, rs17228570, NM_001757.3:c.627C>T, NC_000021.9:g.36072675=, NC_000021.8:g.37444973C>A, XM_005261073.1:c.*736C>T +PA166157545 rs20575 PA36597 TNFRSF10A NC_000008.11:23201811 5 1 0 0 0 20575, rs17759966, 60716604, rs4871857, NC_000008.11:g.23201811=, NP_003835.3:p.Arg209=, NG_032107.1:g.28357G>T, rs17398665, 4871857, 52835905, NC_000008.10:g.23059324C>A, NC_000008.11:g.23201811C>G, 17759966, NG_032107.1:g.28357=, rs60716604, NG_032107.1:g.28357G>C, NP_003835.3:p.Arg209Thr, 17398665, rs11550539, NC_000008.10:g.23059324C>G, NC_000008.11:g.23201811C>A, rs20575, NM_003844.3:c.626G>C, 11550539, NC_000008.10:g.23059324=, NP_003835.3:p.Arg209Ile, rs52835905 +PA166162449 rs20576 PA36597 TNFRSF10A NC_000008.11:23200707 1 0 0 0 0 NC_000008.11:g.23200707T>G, 20576, 17088993, NP_003835.3:p.Glu228Ala, NC_000008.11:g.23200707=, NC_000008.10:g.23058220T>G, NC_000008.10:g.23058220=, NP_003835.3:p.Glu228=, rs20576, NG_032107.1:g.29461A>C, 17759912, 11550538, NG_032107.1:g.29461=, 52836024, 386555427 +PA166154524 rs2058878 PA28980 GRIN2B NC_000012.12:13800184 1 1 0 0 0 XM_011520630.1:c.412-46269A>T, NC_000012.12:g.13800184=, NG_031854.1:g.184905A>T, 17833949, NC_000012.12:g.13800184T>C, NC_000012.12:g.13800184T>A, XM_011520628.1:c.412-46269A>T, NG_031854.2:g.186829A>T, rs2058878, rs17833949, NM_000834.3:c.412-46269A>T, NC_000012.11:g.13953118T>C, NG_031854.2:g.186829=, NC_000012.11:g.13953118T>A, NG_031854.2:g.186829A>G, XM_011520629.1:c.412-46269A>T, 2058878, NC_000012.11:g.13953118= +PA166157320 rs2060761 PA140 DDC NC_000007.14:50461622 1 0 0 0 0 NG_008742.1:g.108835G>A, rs10380555, NM_001242889.1:c.*18+1591G>A, rs2060761, NM_001082971.1:c.*18+1591G>A, XM_011515161.1:c.*18+1591G>A, NM_000790.3:c.*18+1591G>A, NM_001242886.1:c.*18+1591G>A, NM_001242888.1:c.*18+1591G>A, 2060761, NC_000007.13:g.50529320C>G, XM_005271745.3:c.*18+1591G>A, 10380555, rs56923824, NG_008742.1:g.108835G>C, NC_000007.13:g.50529320C>T, NC_000007.13:g.50529320=, 56923824, XM_005271745.1:c.*18+1591G>A, NC_000007.14:g.50461622C>T, NC_000007.14:g.50461622C>G, XM_005271744.1:c.*18+1591G>A, NG_008742.1:g.108835=, NM_001242887.1:c.*18+1591G>A, NC_000007.14:g.50461622= +PA166154873 rs2061051 PA28502 GABRG3 NC_000015.10:27275664 1 1 0 0 0 NG_032887.1:g.309383G>A, rs2061051, NC_000015.9:g.27520811G>A, 2061051, XM_011521430.1:c.271-51145G>A, NG_032887.2:g.309484G>A, NC_000015.9:g.27520811=, rs17672404, NC_000015.10:g.27275664=, NM_001270873.1:c.271-51145G>A, NC_000015.10:g.27275664G>A, NG_032887.2:g.309484=, 17672404, NM_033223.4:c.271-51145G>A, NG_032887.1:g.309383=, XR_932013.1:n.111+4027G>A +PA166157321 rs2061174 PA111 CHRM2 NC_000007.14:136976653 1 0 0 0 0 XM_011515771.1:c.-124-15534G>A, NM_001006628.1:c.-124-15534G>A, rs2061174, 2061174, NM_001006627.1:c.-46-38167G>A, NC_000007.13:g.136661400=, NC_000007.13:g.136661400G>A, NM_001006630.1:c.-124-15534G>A, NC_000007.13:g.136661400G>C, NM_000739.2:c.-124-15534G>A, NM_001006626.1:c.-124-15534G>A, NG_011846.2:g.113002G>A, NM_001006629.1:c.-46-38167G>A, NC_000007.14:g.136976653=, XM_005250130.1:c.-46-38167G>A, NM_001006631.1:c.-124-15534G>A, rs58260046, NG_011846.2:g.113002G>C, XM_011515770.1:c.-124-15534G>A, NG_011846.2:g.113002=, NC_000007.14:g.136976653G>A, 58260046, NC_000007.14:g.136976653G>C, NM_001006632.1:c.-46-38167G>A, NR_046103.1:n.341+56141C>T +PA166222921 rs2061538 PA166048977 RBFOX3 NC_000017.11:79116480 1 0 0 0 0 rs2061538, NC_000017.10:g.77112562G>A, 2061538, NC_000017.11:g.79116480=, NG_053112.1:g.499724C>T, NC_000017.11:g.79116480G>A, NG_053112.1:g.499724=, NC_000017.10:g.77112562= +PA166156533 rs2066702 PA24571 ADH1B NC_000004.12:99307860 1 1 0 0 0 XP_005262787.1:p.Arg330Cys, NG_011435.1:g.18556C>T, XM_005262730.1:c.988C>T, NM_001286650.1:c.988C>T, rs55868078, rs60479679, NC_000004.11:g.100229017=, rs2066702, 2066702, NP_000659.2:p.Arg370Cys, NP_000659.2:p.Arg370=, NG_011435.1:g.18556=, NC_000004.12:g.99307860=, 60479679, NC_000004.11:g.100229017G>A, NM_000668.5:c.1108C>T, NP_001273579.1:p.Arg330Cys, 55868078, NC_000004.12:g.99307860G>A +PA166184026 rs2066713 PA312 SLC6A4 NC_000017.11:30224647 1 1 0 0 0 386556111, NG_011747.2:g.16290C>T, rs2066713, 2066713, NG_011747.2:g.16290=, 17767212, 57648940, NC_000017.10:g.28551665G>A, NC_000017.11:g.30224647G>A, NC_000017.11:g.30224647=, NC_000017.10:g.28551665= +PA166155027 rs2066844 PA26074 NOD2 NC_000016.10:50712015 2 1 0 0 0 XM_011523259.1:c.1438C>T, NG_007508.1:g.19877=, XP_006721306.1:p.Arg675Trp, XM_006721242.2:c.2023C>T, XR_933387.1:n.2113C>T, 58650267, NP_071445.1:p.Arg702=, 2066844, XM_011523261.1:c.2023C>T, rs2066844, NM_022162.1:c.2104C>T, XM_011523260.1:c.2023C>T, XP_011521562.1:p.Arg675Trp, NP_001280486.1:p.Arg675Trp, NM_022162.2:c.2104C>T, XM_005256084.1:c.2023C>T, NC_000016.10:g.50712015C>T, XR_429726.2:n.2113C>T, NG_007508.1:g.19877C>T, XM_011523258.1:c.1600C>T, XR_429725.2:n.2113C>T, XP_005256141.1:p.Arg675Trp, XM_011523257.1:c.1600C>T, rs17860491, XP_011521559.1:p.Arg534Trp, XP_011521563.1:p.Arg675Trp, XP_011521561.1:p.Arg480Trp, NP_071445.1:p.Arg702Trp, XP_011521560.1:p.Arg534Trp, rs17221641, NC_000016.10:g.50712015=, XP_006721305.1:p.Arg675Trp, XM_005256084.2:c.2023C>T, NC_000016.9:g.50745926C>T, 17860491, rs58650267, 17221641, NM_001293557.1:c.2023C>T, NC_000016.9:g.50745926=, XM_006721243.2:c.2023C>T +PA166157322 rs2066853 PA24641 AHR NC_000007.14:17339486 8 0 0 0 0 rs59985413, NC_000007.13:g.17379110G>A, rs2066853, rs52789584, rs17137606, NM_001621.4:c.1661G>A, rs10330845, 2066853, NC_000007.13:g.17379110=, NP_001612.1:p.Arg554Lys, NC_000007.14:g.17339486G>A, NP_001612.1:p.Arg554=, 52789584, 59985413, 10330845, 17137606, NC_000007.14:g.17339486= +PA166157008 rs2066911 NC_000006.12:23548122 1 0 0 0 0 XR_926600.1:n.278+35982C>T, NC_000006.12:g.23548122=, XR_926601.1:n.278+35982C>T, rs2066911, 2066911, NC_000006.11:g.23548350=, NC_000006.11:g.23548350G>A, rs59102268, NC_000006.12:g.23548122G>A, 59102268 +PA166157323 rs2066992 PA198 IL6 NC_000007.14:22728630 3 0 0 0 0 NM_001318095.1:c.-18-63G>T, 58064907, NM_000600.4:c.211-63G>T, NG_011640.1:g.6484G>C, NC_000007.13:g.22768249G>C, NG_011640.1:g.6484G>A, NR_131935.1:n.-1010C>A, NC_000007.13:g.22768249G>A, rs58064907, XM_011515391.1:c.-18-63G>T, NC_000007.13:g.22768249=, NC_000007.14:g.22728630G>T, NC_000007.13:g.22768249G>T, rs17147236, rs2066992, XM_011515390.1:c.211-63G>T, XM_005249745.3:c.373-63G>T, 17147236, 2066992, NC_000007.14:g.22728630G>C, XM_005249745.1:c.373-63G>T, NC_000007.14:g.22728630G>A, XM_005249746.1:c.-18-63G>T, NG_011640.1:g.6484G>T, NG_011640.1:g.6484=, NC_000007.14:g.22728630= +PA166232225 rs2067011 PA28995 GRM6 NC_000005.10:178988936 1 0 0 0 0 NC_000005.10:g.178988936=, NP_000834.2:p.Asn451=, NC_000005.9:g.178415937=, rs2067011, 2067011, 386556144, 61390692, 17839799, NG_008105.1:g.11188T>C, 52803732, NC_000005.10:g.178988936A>G, NC_000005.9:g.178415937A>G, NG_008105.1:g.11188= +PA166156782 rs2067474 PA29457 HRH2 NC_000005.10:175682216 1 0 0 0 0 2067474, 60447449, rs2067474, NM_001131055.1:c.-525-493G>A, XM_006714865.2:c.-525-493G>A, NC_000005.9:g.175109219G>A, XM_005265905.1:c.-525-493G>A, NC_000005.9:g.175109219=, NC_000005.10:g.175682216G>A, XM_011534548.1:c.-525-493G>A, rs60447449, XR_245274.2:n.361-493G>A, XM_005265906.1:c.-525-493G>A, NC_000005.10:g.175682216=, NM_022304.2:c.-1018G>A, XM_011534549.1:c.-525-493G>A, XM_005265907.1:c.-525-493G>A, XM_005265904.1:c.-525-493G>A, XM_005265904.2:c.-525-493G>A, XM_006714864.2:c.-525-493G>A, XR_245274.1:n.313-493G>A +PA166154349 rs2067482 PA26485 CHRM4 NC_000011.10:46385217 1 0 0 0 0 NP_000732.2:p.Thr447=, NM_000741.3:c.1341C>T, XM_005252770.1:c.1341C>T, NC_000011.10:g.46385217=, NC_000011.10:g.46385217G>A, XP_005252827.1:p.Thr447=, NC_000011.9:g.46406767G>A, NC_000011.9:g.46406767=, rs2067482, 2067482 +PA166179956 rs2068190 PA29557 HTR4 NC_000005.10:148627450 1 0 0 0 0 NG_029052.1:g.31727=, NG_029052.1:g.31727C>A, NC_000005.9:g.148007013G>T, 17777636, NC_000005.10:g.148627450G>A, NC_000005.10:g.148627450=, NC_000005.10:g.148627450G>C, 386556191, 58039553, rs2068190, NC_000005.9:g.148007013G>C, NG_029052.1:g.31727C>T, NC_000005.9:g.148007013G>A, 56578074, NC_000005.9:g.148007013=, 2068190, NC_000005.10:g.148627450G>T, NG_029052.1:g.31727C>G +PA166156341 rs2069062 PA28996 GRM7 NC_000003.12:6992862 1 1 0 0 0 NG_029781.1:g.136748=, NG_029781.1:g.136748G>T, NC_000003.12:g.6992862G>T, 56453606, NM_000844.3:c.519+130955G>C, XM_005265095.1:c.519+130955G>C, XR_940422.1:n.811+130955G>C, 58638926, rs4686105, 4686105, NC_000003.11:g.7034549G>T, NC_000003.12:g.6992862G>C, rs56453606, NC_000003.11:g.7034549=, NG_029781.1:g.136748G>C, 2069062, rs58638926, NC_000003.12:g.6992862=, rs2069062, NC_000003.11:g.7034549G>C, NM_181874.2:c.519+130955G>C +PA166154525 rs2069502 PA26411,PA102,PA134920045,PA34949 AGAP2,CDK4,MARCHF9,TSPAN31 NC_000012.12:57750882 1 1 0 0 0 58413455, rs2069502, rs3211616, 386556250, NG_007484.2:g.6500=, NC_000012.12:g.57750882C>T, 2069502, 3211616, NG_007484.2:g.6500G>C, NG_007484.2:g.6500G>A, NC_000012.11:g.58144665C>T, NM_000075.3:c.522+41G>A, rs58413455, NC_000012.12:g.57750882C>G, NM_000075.2:c.522+41G>A, XM_005268560.1:c.300+41G>A, NC_000012.12:g.57750882=, NC_000012.11:g.58144665C>G, XR_245887.1:n.631-211G>A, rs386556250, NC_000012.11:g.58144665= +PA166154874 rs2069514 PA27093 CYP1A2 NC_000015.10:74745879 22 3 0 0 0 NG_008431.1:g.28338G>A, rs2069514, 2069514, NG_055245.1:g.1549=, NC_000015.9:g.75038220G>A, NG_061543.1:g.2035=, NG_055245.1:g.1549G>A, NC_000015.10:g.74745879G>A, NC_000015.10:g.74745879=, NC_000015.9:g.75038220=, NG_061543.1:g.2035G>A, NG_008431.2:g.28338G>A, NG_008431.2:g.28338= +PA166154875 rs2069521 NC_000015.10:74746626 4 1 0 0 0 2069521, NG_008431.1:g.29085G>A, NG_061543.1:g.2782=, NG_055245.1:g.2296=, NG_061543.1:g.2782G>A, rs2069521, NC_000015.9:g.75038967G>A, NC_000015.10:g.74746626=, NC_000015.10:g.74746626G>A, NG_055245.1:g.2296G>A, rs60907735, rs17633880, NC_000015.9:g.75038967=, NG_008431.2:g.29085G>A, NG_008431.2:g.29085=, 17633880, 60907735 +PA166154876 rs2069522 PA27093 CYP1A2 NC_000015.10:74746892 1 0 0 0 0 NG_055245.1:g.2562T>C, 17690443, NG_055245.1:g.2562=, rs2069522, 2069522, NC_000015.9:g.75039233=, NG_008431.2:g.29351T>C, NM_000761.4:c.-2015T>C, rs17690443, 61436425, NG_061543.1:g.3048T>C, NG_061543.1:g.3048=, NC_000015.10:g.74746892T>C, NC_000015.9:g.75039233T>C, NG_008431.2:g.29351=, NG_008431.1:g.29351T>C, NC_000015.10:g.74746892=, rs61436425 +PA166154877 rs2069526 PA27093 CYP1A2 NC_000015.10:74749000 4 1 0 0 0 61709032, NC_000015.9:g.75041341=, rs2069526, NC_000015.9:g.75041341T>G, 17861148, NG_061543.1:g.5156=, rs17861148, NG_008431.2:g.31459=, NC_000015.10:g.74749000T>G, NC_000015.10:g.74749000=, NM_000761.3:c.-10+103T>G, 2069526, NG_055245.1:g.4670=, 57601484, NM_000761.4:c.-10+103T>G, NG_008431.2:g.31459T>G, rs57601484, NG_061543.1:g.5156T>G, rs61709032, NG_055245.1:g.4670T>G, NG_008431.1:g.31459T>G +PA166154526 rs2069705 PA29674 IFNG NC_000012.12:68161231 1 0 0 0 0 NG_015840.1:g.3511C>G, NM_000619.2:c.-1616C>T, NC_000012.11:g.68555011=, rs59576452, 386556257, NG_015840.1:g.3511=, 2069705, NC_000012.11:g.68555011G>C, NG_015840.1:g.3511C>T, rs2069705, rs386556257, NC_000012.12:g.68161231=, 59576452, NC_000012.11:g.68555011G>A, NC_000012.12:g.68161231G>A, NC_000012.12:g.68161231G>C +PA166179089 rs2069716 PA29674 IFNG NC_000012.12:68157035 1 0 0 0 0 NG_015840.1:g.7707=, NG_015840.1:g.7707A>G, 386503539, NC_000012.12:g.68157035T>C, 2069716, NC_000012.12:g.68157035=, 61320855, rs2069716, NC_000012.11:g.68550815=, NC_000012.11:g.68550815T>C +PA166156534 rs2069762 PA195 IL2 NC_000004.12:122456825 4 0 0 0 0 NG_016779.1:g.4671T>G, NG_016779.1:g.4671=, 2069762, NM_000586.3:c.-385T>G, NC_000004.12:g.122456825=, rs2069762, 386556267, NC_000004.12:g.122456825A>C, 36215458, NC_000004.11:g.123377980A>C, rs386556267, NC_000004.11:g.123377980=, rs36215458 +PA166156535 rs2069763 PA195 IL2 NC_000004.12:122456327 1 0 0 0 0 2069763, NP_000577.2:p.Leu38=, NC_000004.12:g.122456327C>G, NC_000004.11:g.123377482C>A, rs2069763, 386556268, 58787434, NC_000004.11:g.123377482=, NG_016779.1:g.5169G>T, NM_000586.3:c.114G>T, NC_000004.12:g.122456327=, NC_000004.12:g.122456327C>A, rs386556268, NC_000004.11:g.123377482C>T, NG_016779.1:g.5169=, rs58787434, 117267315, NG_016779.1:g.5169G>A, NC_000004.12:g.122456327C>T, NG_016779.1:g.5169G>C, rs117267315, NC_000004.11:g.123377482C>G +PA166283041 rs2069812 PA29833 IL5 NC_000005.10:132544224 1 0 0 0 0 17690159, 58466988, rs2069812, 56429529, NC_000005.9:g.131879916=, NG_033019.1:g.4299=, NC_000005.10:g.132544224A>G, NC_000005.9:g.131879916A>G, 2069812, NC_000005.10:g.132544224=, NG_033019.1:g.4299T>C +PA166182385 rs2069835 PA198 IL6 NC_000007.14:22728252 1 0 0 0 0 NC_000007.14:g.22728252=, 60497042, NG_011640.1:g.6106T>C, NG_011640.1:g.6106=, NC_000007.13:g.22767871T>C, 2069835, 16873255, rs2069835, NC_000007.13:g.22767871=, NC_000007.14:g.22728252T>C +PA166157324 rs2069837 PA198 IL6 NC_000007.14:22728408 1 0 0 0 0 XM_005249745.1:c.373-285A>G, NM_000600.4:c.211-285A>G, NR_131935.1:n.-788T>C, XM_005249745.3:c.373-285A>G, NC_000007.14:g.22728408=, 2069837, NC_000007.13:g.22768027A>C, NC_000007.13:g.22768027A>G, NM_001318095.1:c.-18-285A>G, rs2069837, rs111176548, NG_011640.1:g.6262A>G, NC_000007.13:g.22768027=, NG_011640.1:g.6262A>C, rs16873259, NC_000007.14:g.22728408A>G, 56908115, XM_011515391.1:c.-18-285A>G, NC_000007.14:g.22728408A>C, XM_011515390.1:c.211-285A>G, rs56908115, 111176548, 3779040, XM_005249746.1:c.-18-285A>G, rs3779040, 16873259, NG_011640.1:g.6262= +PA166179092 rs2069840 PA198 IL6 NC_000007.14:22728953 1 0 0 0 0 2069840, 17777297, rs2069840, NG_011640.1:g.6807C>G, 56650480, NC_000007.14:g.22728953C>G, NG_011640.1:g.6807=, NC_000007.14:g.22728953=, NC_000007.13:g.22768572=, NC_000007.13:g.22768572C>G +PA166283081 rs2069885 PA29845 IL9 NC_000005.10:135892476 1 0 0 0 0 386556274, NC_000005.10:g.135892476G>A, NC_000005.9:g.135228165G>A, NC_000005.10:g.135892476=, NC_000005.10:g.135892476G>C, NP_000581.1:p.Thr117Met, rs2069885, 2069885, 17519717, NC_000005.9:g.135228165G>C, NP_000581.1:p.Thr117Arg, NC_000005.9:g.135228165=, NP_000581.1:p.Thr117=, 60288032 +PA166155664 rs2069919 PA33799 PROC NC_000002.12:127421977 1 0 0 0 0 NG_016323.1:g.8558=, XM_005263717.1:c.300+528G>A, rs2069919, NC_000002.12:g.127421977=, XM_005263716.3:c.300+528G>A, XM_005263715.3:c.420+528G>A, NG_016323.1:g.8558G>A, 2069919, XM_005263716.1:c.300+528G>A, XM_005263715.1:c.420+528G>A, NM_000312.3:c.237+528G>A, rs57786626, 57786626, NC_000002.11:g.128179553G>A, NC_000002.12:g.127421977G>A, XM_005263717.3:c.300+528G>A, NC_000002.11:g.128179553= +PA166179818 rs2070096 PA25256 BARD1 NC_000002.12:214780821 1 1 0 0 0 NC_000002.12:g.214780821C>T, NG_012047.3:g.33891G>C, NP_000456.2:p.Thr351=, NC_000002.11:g.215645545=, NC_000002.11:g.215645545C>T, NG_012047.2:g.33884G>T, rs2070096, 2070096, 17487937, NC_000002.12:g.214780821=, NG_012047.3:g.33891=, 3820725, NC_000002.11:g.215645545C>G, NG_012047.3:g.33891G>T, NG_012047.2:g.33884=, NC_000002.12:g.214780821C>G, NC_000002.11:g.215645545C>A, NG_012047.2:g.33884G>C, NG_012047.3:g.33891G>A, NC_000002.12:g.214780821C>A, NG_012047.2:g.33884G>A +PA166160167 rs2070232 PA36196 STIP1 NC_000011.10:64203153 1 0 0 0 0 2154985, NC_000011.9:g.63970625=, NG_016360.1:g.1474G>A, 17601334, NP_006810.1:p.Ala437=, rs2070232, 2070232, NC_000011.10:g.64203153=, NC_000011.10:g.64203153G>A, NC_000011.9:g.63970625G>A, NG_016360.1:g.1474=, 60119921 +PA166153991 rs2070296 PA31783 NRP1 NC_000010.11:33263767 1 1 0 0 0 NP_001231901.1:p.Ala179=, NP_001231902.1:p.Ala179=, NC_000010.11:g.33263767C>T, XM_006717521.1:c.537G>A, NP_001019799.1:p.Ala179=, XM_006717523.1:c.537G>A, NG_030328.1:g.76139G>C, NM_001024629.2:c.537G>A, XM_011519756.1:c.537G>A, XM_006717524.1:c.537G>A, NC_000010.11:g.33263767C>G, XM_006717522.1:c.537G>A, NC_000010.10:g.33552695C>T, NM_001024628.2:c.537G>A, 2070296, 61609007, NP_003864.4:p.Ala179=, XM_006717525.1:c.537G>A, rs2070296, NC_000010.11:g.33263767=, XP_006717589.1:p.Val179=, NM_003873.5:c.537G>A, NR_045259.1:n.878G>A, NG_030328.1:g.76139G>A, XM_011519755.1:c.537G>A, NM_001244973.1:c.537G>A, XP_006717587.1:p.Val179=, XP_006717586.1:p.Val179=, XP_006717588.1:p.Val179=, XP_011518057.1:p.Val179=, rs61609007, NC_000010.10:g.33552695C>G, NP_001019800.1:p.Ala179=, XP_006717584.1:p.Val179=, XP_006717585.1:p.Val179=, XM_006717526.1:c.537G>A, NG_030328.1:g.76139=, NM_001244972.1:c.537G>A, XP_011518058.1:p.Val179=, NC_000010.10:g.33552695= +PA166155995 rs2070401 PA25234 BACH1 NC_000021.9:29343164 2 1 0 0 0 NC_000021.9:g.29343164A>G, XR_244286.1:n.2072-8470A>G, rs2070401, 2070401, NM_001186.3:c.*331A>G, NM_206866.2:c.*331A>G, NG_029658.1:g.49266=, NC_000021.8:g.30715485A>G, NG_029658.2:g.49266=, NG_029658.2:g.49266A>G, XM_005261012.1:c.*331A>G, XM_005261013.1:c.*331A>G, NC_000021.8:g.30715485=, XM_005261014.1:c.*331A>G, NC_000021.9:g.29343164=, NR_027655.2:n.1956-8470A>G, NG_029658.1:g.49266A>G +PA166156084 rs2070474 PA165378332,PA418 ADORA2A-AS1,UPB1 NC_000022.11:24495324 3 0 0 0 0 199469575, NG_012858.1:g.5042C>G, XM_011530225.1:c.-522C>G, rs199469575, XM_005261633.1:c.-112C>G, NG_012858.1:g.5042=, NC_000022.11:g.24495324C>T, NM_016327.2:c.-80C>G, NC_000022.11:g.24495324C>G, NC_000022.10:g.24891292C>G, NG_012858.1:g.5042C>T, XM_011530222.1:c.-80C>G, NR_028484.2:n.-250G>C, NR_028483.2:n.-250G>C, NC_000022.11:g.24495324=, NC_000022.10:g.24891292C>T, NG_012858.2:g.5042C>G, NC_000022.10:g.24891292=, rs2070474, XM_011530223.1:c.-80C>G, 2070474, XR_937867.1:n.858C>G, NG_012858.2:g.5042C>T, XM_011530224.1:c.-80C>G, NG_012858.2:g.5042=, XR_244378.1:n.265C>G +PA166263682 rs2070586 PA27139 DAO NC_000012.12:108883944 3 0 0 0 0 2070586, NC_000012.12:g.108883944=, rs2070586, 61023085, NG_023236.1:g.8864G>A, NC_000012.12:g.108883944G>A, NC_000012.11:g.109277720G>A, NC_000012.11:g.109277720=, NG_023236.1:g.8864= +PA166263683 rs2070587 PA27139 DAO NC_000012.12:108883967 3 0 0 0 0 2070587, NG_023236.1:g.8887T>G, rs2070587, 57489577, NC_000012.11:g.109277743T>G, NC_000012.12:g.108883967=, NC_000012.12:g.108883967T>G, NC_000012.11:g.109277743=, NG_023236.1:g.8887= +PA166153992 rs2070672 PA129 CYP2E1 NC_000010.11:133527044 3 0 0 0 0 rs58043512, NG_055447.1:g.3494A>G, rs2070672, NC_000010.10:g.135340548A>G, 2070672, NM_000773.3:c.-352A>G, NG_008383.1:g.4682=, NC_000010.11:g.133527044A>G, XM_005252665.1:c.21+171A>G, 58043512, NC_000010.10:g.135340548=, NG_055447.1:g.3494=, NC_000010.11:g.133527044=, NG_008383.1:g.4682A>G +PA166153993 rs2070673 PA129,PA27535 CYP2E1,DUX1 NC_000010.11:133527063 7 1 0 0 0 NG_008383.1:g.4701=, NG_055447.1:g.3513A>T, NM_000773.3:c.-333A>T, NC_000010.10:g.135340567A>T, rs2070673, NG_008383.1:g.4701A>T, 2070673, XM_005252665.1:c.21+190A>T, NC_000010.10:g.135340567=, NC_000010.11:g.133527063A>T, NC_000010.11:g.133527063=, NG_055447.1:g.3513= +PA166153994 rs2070676 PA129 CYP2E1 NC_000010.11:133537633 4 1 0 0 0 NG_008383.1:g.15271G>T, rs2070676, NC_000010.10:g.135351137G>C, 2070676, rs59960595, 56527359, XM_005252665.1:c.1216-118G>C, NC_000010.11:g.133537633=, NC_000010.10:g.135351137=, 60668193, 17012756, NC_000010.11:g.133537633G>T, NG_008383.1:g.15271G>A, NC_000010.10:g.135351137G>T, NG_008383.1:g.15271G>C, rs56527359, NG_008383.1:g.15271=, 59960595, rs17012756, rs60668193, NM_000773.3:c.1156-118G>C, NC_000010.11:g.133537633G>A, NC_000010.10:g.135351137G>A, NC_000010.11:g.133537633G>C +PA166157325 rs2070744 PA254 NOS3 NC_000007.14:150992991 13 6 0 0 0 rs2070744, NG_055511.1:g.4870C>T, NG_011992.1:g.6933C>T, NM_001160111.1:c.-813C=, NC_000007.13:g.150690079C=, NG_011992.1:g.6933C=, NM_000603.4:c.-51-762C=, NC_000007.14:g.150992991C=, 10333298, NM_001160110.1:c.-813C=, NC_000007.13:g.150690079C>T, NM_001160109.1:c.-813C>T, NM_001160109.1:c.-813C=, NC_000007.14:g.150992991=, XM_006716002.2:c.-813C>T, rs10333298, NG_011992.1:g.6933=, 34629525, NC_000007.13:g.150690079=, NC_000007.13:g.150690079C>G, NG_055511.1:g.4870=, 61324345, rs34629525, NM_000603.4:c.-51-762C>T, NC_000007.14:g.150992991C>T, NG_055511.1:g.4870C>G, NG_011992.1:g.6933C>G, rs61324345, XM_006716002.2:c.-813C=, NM_001160110.1:c.-813C>T, NC_000007.14:g.150992991C>G, 2070744, NM_001160111.1:c.-813C>T +PA166175927 rs2070762 PA351 TH NC_000011.10:2165105 4 2 0 0 0 NC_000011.10:g.2165105=, 2070762, NG_007114.1:g.1090=, rs2070762, NC_000011.9:g.2186335=, NC_000011.9:g.2186335A>G, NG_008128.1:g.11701=, 2234827, NG_050578.1:g.1105T>A, NC_000011.9:g.2186335A>T, 3842720, 61359170, NG_007114.1:g.1090T>C, NG_050578.1:g.1105T>C, NC_000011.10:g.2165105A>G, NG_008128.1:g.11701T>C, NG_008128.1:g.11701T>A, NC_000011.10:g.2165105A>T, NG_050578.1:g.1105=, NG_007114.1:g.1090T>A +PA166255482 rs2070788 PA36577 TMPRSS2 NC_000021.9:41470061 1 0 0 0 0 rs2070788, NC_000021.9:g.41470061=, NC_000021.9:g.41470061G>A, NC_000021.8:g.42841988=, NG_047085.2:g.66056C>T, 59981876, 2070788, NC_000021.8:g.42841988G>A, NG_047085.2:g.66056= +PA166156536 rs2070950 PA242 NR3C2 NC_000004.12:148437220 1 0 0 0 0 2070950, NM_001166104.1:c.-2-358C>G, rs2070950, XM_011531976.1:c.-2-358C>G, NG_013350.1:g.10301=, NM_000901.4:c.-2-358C>G, rs56518125, NC_000004.12:g.148437220=, XM_011531977.1:c.-2-358C>G, XM_011531975.1:c.-2-358C>G, XM_005263014.1:c.-2-358C>G, NG_013350.1:g.10301C>G, NC_000004.12:g.148437220G>C, XM_011531978.1:c.-2-358C>G, 56518125, rs61661951, 61661951, XR_244631.1:n.362-358C>G, NC_000004.11:g.149358372=, NC_000004.11:g.149358372G>C +PA166155665 rs2070959 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233693545 23 5 2 0 0 XR_241240.1:n.702A>G, NP_001063.2:p.Thr181Ala, NM_021027.2:c.855+20756A>G, XR_241241.1:n.941+20756A>G, NM_019077.2:c.855+10753A>G, NG_002601.2:g.108802A>G, rs17683988, 386556316, rs2070959, 2070959, NM_019076.4:c.856-73489A>G, NM_205862.1:c.-7-254A>G, NP_001063.2:p.Thr181=, NM_019075.2:c.855+56168A>G, rs386556316, 61246460, 17683988, 3903007, rs3903007, NC_000002.11:g.234602191=, NC_000002.12:g.233693545=, NC_000002.12:g.233693545A>G, NG_002601.2:g.108802=, NC_000002.11:g.234602191A>G, NM_001072.3:c.541A>G, rs61246460 +PA166155996 rs2070995 PA30049 KCNJ6 NC_000021.9:37714662 6 2 0 0 0 XM_011529559.1:c.495A>G, NG_029892.2:g.206732A>T, NP_002231.1:p.Pro165=, rs2070995, 2070995, XR_937707.1:n.-1255T>C, 58872916, NC_000021.9:g.37714662T>A, XP_011527861.1:p.Pro165=, NC_000021.8:g.39086965T>A, NC_000021.8:g.39086965T>C, XP_011527860.1:p.Pro165=, NC_000021.9:g.37714662=, NM_002240.4:c.495A>G, NG_029892.2:g.206732A>G, rs58872916, NC_000021.9:g.37714662T>C, NC_000021.8:g.39086965=, XM_011529558.1:c.495A>G, NG_029892.2:g.206732= +PA166157326 rs2071045 PA228 LEP NC_000007.14:128252927 1 0 0 0 0 NC_000007.14:g.128252927T>A, NG_007450.1:g.16650T>C, NG_007450.1:g.16650T>A, rs2071045, XM_005250340.1:c.144+765T>C, NC_000007.14:g.128252927T>C, 2071045, NG_007450.1:g.16650=, NC_000007.13:g.127892980T>A, NC_000007.13:g.127892980T>C, NM_000230.2:c.144+765T>C, NC_000007.13:g.127892980=, NC_000007.14:g.128252927=, XM_005250340.3:c.144+765T>C +PA166155919 rs2071197 PA29349 HNF4A NC_000020.11:44401795 8 2 0 0 0 XM_011528798.1:c.-687G>A, rs2071197, 61166839, 2071197, NM_001030003.2:c.50-4263G>A, NM_001287182.1:c.41-4263G>A, NM_178850.2:c.115+308G>A, NG_009818.1:g.50995=, NM_000457.4:c.115+308G>A, NM_001287184.1:c.41-4263G>A, NM_178849.2:c.115+308G>A, NM_001287183.1:c.41-4263G>A, NC_000020.10:g.43030435=, NC_000020.11:g.44401795G>A, NG_009818.1:g.50995G>A, NC_000020.10:g.43030435G>A, NM_001258355.1:c.3+308G>A, XM_005260407.2:c.141+282G>A, 3212176, XM_005260407.1:c.141+282G>A, NC_000020.11:g.44401795=, rs3212176, NM_001030004.2:c.50-4263G>A, rs61166839, NM_175914.4:c.50-4263G>A, XM_011528797.1:c.-687G>A +PA166154350 rs2071230 PA30867,PA30868 MMP1,MMP10 NC_000011.10:102790228 1 0 0 0 0 NC_000011.10:g.102790228A>G, rs52837546, rs2071230, NG_011740.2:g.13008T>C, 2071230, NC_000011.9:g.102660959A>G, NG_011740.2:g.13008=, NG_011740.1:g.13008=, NR_038390.1:n.390-2917A>G, NC_000011.9:g.102660959=, NG_011740.1:g.13008T>C, 52837546, NC_000011.10:g.102790228=, XM_005271555.1:c.*184T>C, NM_001145938.1:c.*184T>C, NM_002421.3:c.*184T>C +PA166232204 rs2071247 PA28995 GRM6 NC_000005.10:178983150 1 0 0 0 0 rs2071247, 2071247, NC_000005.9:g.178410151C>T, NG_008105.1:g.16974=, NC_000005.10:g.178983150C>T, 117611066, NC_000005.9:g.178410151C>G, NC_000005.10:g.178983150C>G, NP_000834.2:p.Thr732=, NC_000005.10:g.178983150=, NG_008105.1:g.16974G>A, 386556328, NC_000005.9:g.178410151=, NG_008105.1:g.16974G>C +PA166157009 rs2071303 PA29263 HFE NC_000006.12:26091108 1 1 0 0 0 NG_008720.2:g.8828T>C, NM_139011.2:c.77-2011T>C, XM_005249040.1:c.340+4T>C, NC_000006.11:g.26091336T>C, NC_000006.12:g.26091108T>C, NM_139008.2:c.77-206T>C, rs60682736, XR_241893.2:n.462+4T>C, 17515611, 56518267, NM_139006.2:c.340+4T>C, NM_139009.2:c.271+4T>C, 60682736, NM_139004.2:c.340+4T>C, NM_139003.2:c.340+4T>C, 2071303, XM_011514544.1:c.340+4T>C, rs2071303, NM_000410.3:c.340+4T>C, 56939457, NM_139007.2:c.77-206T>C, XM_011514543.1:c.340+4T>C, rs56518267, NM_139010.2:c.77-1577T>C, XR_241894.1:n.587+4T>C, NC_000006.12:g.26091108=, NC_000006.11:g.26091336=, NG_008720.2:g.8828=, rs56939457, NM_001300749.1:c.340+4T>C, rs17515611, XR_241893.1:n.462+4T>C +PA166176936 rs2071421 PA25005 ARSA NC_000022.11:50625988 1 1 0 0 0 NG_009260.2:g.7192A>G, NP_000478.3:p.Asn352Ser, 61664838, rs2071421, NC_000022.11:g.50625988T>C, 2071421, NG_009260.2:g.7192=, 80338809, NC_000022.11:g.50625988=, NC_000022.10:g.51064416=, NP_000478.3:p.Asn352=, NC_000022.10:g.51064416T>C +PA166155199 rs2071427 PA31748,PA36507 NR1D1,THRA NC_000017.11:40098239 3 1 0 0 0 NG_033084.1:g.7487G>A, NC_000017.11:g.40098239C>G, rs2234854, 2234854, NG_033084.1:g.7487G>C, rs58548235, NC_000017.10:g.38254492C>T, NM_021724.4:c.32-836G>A, NC_000017.11:g.40098239=, NC_000017.10:g.38254492=, NC_000017.11:g.40098239C>T, NG_033084.1:g.7487G>T, NC_000017.10:g.38254492C>A, NC_000017.11:g.40098239C>A, NG_033084.1:g.7487=, 58548235, rs2071427, NC_000017.10:g.38254492C>G, 2071427 +PA166157010 rs2071543 PA33890,PA35021,PA35022 PSMB8,TAP1,TAP2 NC_000006.12:32843852 1 0 0 0 0 NG_011759.1:g.15120C>G, NT_167244.1:g.4098633G=, XR_241878.1:n.-330G>T, NG_011759.1:g.15120C>A, NT_167249.2:g.4243104G=, XR_241879.1:n.-330G>T, NT_167248.1:g.4043736G=, XR_247345.1:n.-266T>G, NT_167249.1:g.4242402G=, NT_113891.2:g.4256157G=, 11540145, NG_028165.1:g.6084=, NM_148919.3:c.145C>A, NT_167244.2:g.4148717G=, NP_683720.2:p.Gln49=, NR_037176.1:n.-234G>T, NT_167246.1:g.4268825G>T, XM_005275000.1:c.-473A>C, rs57969734, 2071543, NT_113891.2:g.4256157G>T, XR_247350.1:n.-330T>G, rs147533146, NR_037174.1:n.-234G>T, NR_037175.1:n.-234G>T, NR_037173.1:n.-234G>T, XR_247398.1:n.-330T>G, NC_000006.12:g.32843852G=, NT_167248.1:g.4043736G>T, XR_247366.1:n.-330T>G, XR_247397.1:n.-330T>G, XR_247365.1:n.-330T>G, NM_004159.4:c.135+427C>A, NT_113891.3:g.4256051G=, NM_148919.3:c.145C=, NT_167246.2:g.4263205G=, rs114955314, XR_241878.1:n.-330T>G, XR_247349.1:n.-330T>G, XR_241879.1:n.-330T>G, NT_113891.3:g.4256051G>T, NT_167244.2:g.4148717G>T, NT_167247.1:g.4148506G>T, 114955314, NT_167244.1:g.4098633G>T, NR_037176.1:n.-234T>G, NT_167249.2:g.4243104G>T, NT_167247.1:g.4148506G=, NC_000006.11:g.32811629=, NG_011759.1:g.15120C=, NP_683720.2:p.Gln49Lys, NC_000006.11:g.32811629G>C, NR_037174.1:n.-234T>G, NR_037175.1:n.-234T>G, NR_037173.1:n.-234T>G, NT_167248.2:g.4038140G=, NT_167245.2:g.4087422T=, XR_247366.1:n.-330G>T, XR_247365.1:n.-330G>T, NC_000006.11:g.32811629G>T, NT_167245.2:g.4087422T>G, NT_167248.2:g.4038140G>T, XR_247349.1:n.-330G>T, 117376119, NG_028165.1:g.6084C>G, NG_011759.1:g.15120=, NG_028165.1:g.6084C>A, NP_683720.2:p.Gln49Glu, rs117376119, XM_005275000.1:c.-473C>A, XR_246958.1:n.-330G>T, NT_167245.1:g.4093007T=, XR_246957.1:n.-330G>T, 52809374, XR_247419.1:n.-330G>T, XR_247418.1:n.-330G>T, NC_000006.12:g.32843852=, NT_167247.2:g.4142921G>T, NM_004159.4:c.135+427A>C, NT_167246.2:g.4263205G>T, NT_167247.2:g.4142921G=, NT_167246.1:g.4268825G=, rs11540145, NC_000006.12:g.32843852G>C, XR_247345.1:n.-266G>T, NC_000006.11:g.32811629G=, 57969734, 147533146, NC_000006.12:g.32843852G>T, rs52809374, XR_246958.1:n.-330T>G, NT_167245.1:g.4093007T>G, XR_246957.1:n.-330T>G, XR_247350.1:n.-330G>T, rs2071543, NG_028165.1:g.6084C=, XR_247419.1:n.-330T>G, XR_247418.1:n.-330T>G, XR_247398.1:n.-330G>T, NT_167249.1:g.4242402G>T, XR_247397.1:n.-330G>T +PA166157011 rs2071554 PA35061 HLA-DOB NC_000006.12:32816899 1 0 0 0 0 2071554, 17883529, NG_009793.3:g.26872=, NT_167244.1:g.4071839C>T, rs52833026, rs2071554, NT_167245.2:g.4060617C>T, NG_012008.1:g.5150G>T, NM_002120.3:c.53G>A, rs143214015, NC_000006.12:g.32816899C>T, NC_000006.11:g.32784676C>A, 115120730, NT_167244.2:g.4121923C>T, NT_167249.1:g.4215609C>T, NG_012008.1:g.5150G>A, NT_167245.1:g.4066202C>T, NG_009793.3:g.26872G>A, rs117515083, NG_012008.1:g.5150=, NP_002111.1:p.Arg18Gln, NC_000006.11:g.32784676C>T, NT_113891.2:g.4229206C>T, rs115120730, 143214015, NC_000006.12:g.32816899C>A, NC_000006.12:g.32816899=, NT_113891.3:g.4229100C>T, NG_009793.3:g.26872G>T, NP_002111.1:p.Arg18Leu, NT_167249.2:g.4216311C>T, 45613631, NT_167247.2:g.4115992C>T, NP_002111.1:p.Arg18=, 117515083, 60828729, rs17883529, 52833026, NC_000006.11:g.32784676=, rs45613631, rs60828729, NT_167247.1:g.4121577C>T +PA166156537 rs2071559 PA30086 KDR NC_000004.12:55126199 12 1 0 0 0 NG_012004.1:g.4397T>C, NM_002253.2:c.-906T>C, NC_000004.11:g.55992366A>G, 59863954, NG_012004.1:g.4397=, NC_000004.12:g.55126199A>G, rs59863954, NC_000004.12:g.55126199=, NC_000004.11:g.55992366=, rs2071559, 2071559 +PA166155200 rs2071570 PA31748 NR1D1 NC_000017.11:40100837 1 0 0 0 0 NC_000017.10:g.38257090C>G, 2071570, NG_033084.1:g.4889G>T, NC_000017.11:g.40100837C>G, rs2071570, rs56689263, NG_033084.1:g.4889=, NC_000017.10:g.38257090=, NC_000017.11:g.40100837C>A, NC_000017.11:g.40100837=, NC_000017.10:g.38257090C>A, 56689263, NG_033084.1:g.4889G>C, NM_021724.4:c.-743G>T +PA166157012 rs2071888 PA36331 TAPBP NC_000006.12:33305078 1 1 0 0 0 NM_172208.2:c.779C>G, NM_172209.2:c.518C=, NT_167245.2:g.4548605C=, rs117168590, NT_167247.2:g.4741014G>C, XM_011547276.1:c.779G=, rs3208347, 3208347, 141997300, XM_005275286.1:c.518C>G, NC_000006.11:g.33272855G>C, NT_167245.1:g.4554190C=, XM_005272864.1:c.518G>C, NT_167247.1:g.4746599G>C, XM_005272864.1:c.518G=, XM_011514828.1:c.779C>G, XP_011545981.1:p.Arg260Thr, 117168590, NC_000006.12:g.33305078G>C, XP_011546379.1:p.Thr260=, 56901798, XM_011547679.1:c.779G=, NC_000006.12:g.33305078G=, XP_005275074.1:p.Arg173Thr, NP_003181.3:p.Thr260=, NC_000006.12:g.33305078=, XM_005275448.1:c.518G=, XM_005249333.1:c.518C>G, NM_003190.4:c.779C>G, rs2071888, XP_011513130.1:p.Thr260Arg, 116056022, XM_011548077.1:c.779C=, XP_005249390.1:p.Thr173Arg, rs17221681, rs52823576, NG_009876.1:g.14135C=, XP_011546568.1:p.Arg260Thr, NT_113891.2:g.4716678C>G, NG_009876.1:g.14135=, XP_005275074.1:p.Arg173=, XM_005275017.1:c.518G=, NP_757346.2:p.Thr173=, NT_167248.2:g.4499509C>G, NM_172209.2:c.518C>G, NT_167248.2:g.4499509C=, NM_172208.2:c.779C=, NT_113891.2:g.4716678C=, NT_167245.1:g.4554190C>G, XM_011547679.1:c.779G>C, XM_005249333.1:c.518C=, XM_005275017.1:c.518G>C, XP_011546379.1:p.Thr260Arg, NT_113891.3:g.4716572C>G, NT_167247.2:g.4741014G=, XP_005272921.1:p.Arg173Thr, NT_113891.3:g.4716572C=, XM_011548077.1:c.779C>G, XP_011513130.1:p.Thr260=, NP_003181.3:p.Thr260Arg, XP_011545981.1:p.Arg260=, NT_167245.2:g.4548605C>G, NC_000006.11:g.33272855=, XM_011514828.1:c.779C=, rs56901798, 2071888, NT_167248.1:g.4505105C>G, NM_003190.4:c.779C=, NC_000006.11:g.33272855G=, 52823576, XP_005272921.1:p.Arg173=, XP_005275343.1:p.Thr173Arg, XM_005275448.1:c.518G>C, XM_005275286.1:c.518C=, XP_005275343.1:p.Thr173=, XP_011545578.1:p.Arg260Thr, XM_011548266.1:c.779G>C, XP_005275505.1:p.Arg173=, XP_005249390.1:p.Thr173=, XP_005275505.1:p.Arg173Thr, rs116056022, NG_009876.1:g.14135C>G, NP_757345.2:p.Thr260=, NT_167247.1:g.4746599G=, XM_011547276.1:c.779G>C, XP_011545578.1:p.Arg260=, XM_011548266.1:c.779G=, NP_757345.2:p.Thr260Arg, NT_167248.1:g.4505105C=, rs141997300, XP_011546568.1:p.Arg260=, NP_757346.2:p.Thr173Arg, 17221681 +PA166160529 rs2072183 PA31699 NPC1L1 NC_000007.14:44539581 1 0 0 0 0 NG_013088.1:g.6735C>T, NC_000007.13:g.44579180=, 59398540, NC_000007.14:g.44539581G>T, NC_000007.13:g.44579180G>T, NG_013088.1:g.6735=, NP_037521.2:p.Leu272=, rs2072183, 2072183, NG_013088.1:g.6735C>G, NC_000007.14:g.44539581=, NC_000007.14:g.44539581G>C, NG_013088.1:g.6735C>A, NC_000007.13:g.44579180G>A, NC_000007.13:g.44579180G>C, NC_000007.14:g.44539581G>A +PA166161279 rs2072446 PA31615 NGFR NC_000017.11:49510457 1 0 0 0 0 52812913, NP_002498.1:p.Ser205=, NC_000017.10:g.47587819=, rs2072446, 2072446, NC_000017.11:g.49510457C>T, NC_000017.10:g.47587819C>G, NP_002498.1:p.Ser205Leu, NC_000017.11:g.49510457=, NC_000017.10:g.47587819C>T, NP_002498.1:p.Ser205Trp, NC_000017.11:g.49510457C>G +PA166304321 rs2072454 PA7360 EGFR NC_000007.14:55146655 1 0 0 0 0 NC_000007.14:g.55146655C>A, NG_007726.3:g.132624C>G, NC_000007.13:g.55214348=, 2072454, NC_000007.13:g.55214348C>T, rs2072454, 17516844, NG_007726.3:g.132624=, NC_000007.14:g.55146655C>G, NG_007726.3:g.132624C>T, NC_000007.14:g.55146655=, NP_005219.2:p.Asn158=, NC_000007.13:g.55214348C>A, NC_000007.14:g.55146655C>T, 17289679, NC_000007.13:g.55214348C>G, NP_005219.2:p.Asn158Lys, NG_007726.3:g.132624C>A +PA166266283 rs2072560 PA24888,PA37629 APOA5,ZPR1 NC_000011.10:116791110 1 0 0 0 0 NC_000011.9:g.116661826T>G, NG_015894.2:g.6311A>T, 2072560, NC_000011.9:g.116661826T>A, NG_015894.1:g.6311A>G, NG_051344.1:g.165T>A, rs2072560, NC_000011.10:g.116791110T>A, NG_051344.1:g.165T>C, NG_015894.1:g.6311A>C, NC_000011.9:g.116661826T>C, NG_051344.1:g.165T>G, NC_000011.10:g.116791110T>G, NG_015894.2:g.6311A>C, NC_000011.10:g.116791110T>C, NG_015894.2:g.6311A>G, NG_015894.2:g.6311=, NG_051344.1:g.165=, NC_000011.9:g.116661826=, NG_015894.1:g.6311A>T, NG_015894.1:g.6311=, NC_000011.10:g.116791110= +PA166153664 rs2072658 PA115 CHRNB2 NC_000001.11:154567749 1 1 0 0 0 rs2072658, NG_008027.1:g.4969=, NC_000001.10:g.154540225G>A, NG_008027.1:g.4969G>A, NC_000001.11:g.154567749=, NC_000001.11:g.154567749G>A, NM_000748.2:c.-296G>A, 2072658, NC_000001.10:g.154540225= +PA166153665 rs2072660 PA115 CHRNB2 NC_000001.11:154576245 3 1 0 0 0 NG_008027.1:g.13465T>C, NG_008027.1:g.13465T>G, 60570685, NC_000001.10:g.154548721=, NG_008027.1:g.13465=, rs2072660, 2072660, rs60570685, NC_000001.11:g.154576245=, NC_000001.10:g.154548721T>C, NM_000748.2:c.*313T>C, NC_000001.11:g.154576245T>C, NC_000001.10:g.154548721T>G, NC_000001.11:g.154576245T>G +PA166153666 rs2072661 PA115 CHRNB2 NC_000001.11:154576404 7 1 0 0 0 NC_000001.11:g.154576404=, NG_008027.1:g.13624=, NC_000001.10:g.154548880G>A, 2072661, rs2072661, NG_008027.1:g.13624G>A, NC_000001.10:g.154548880=, NM_000748.2:c.*472G>A, NC_000001.11:g.154576404G>A +PA166153667 rs2072671 PA98 CDA NC_000001.11:20589208 36 4 0 0 0 NP_001776.1:p.Lys27=, 57221291, NM_001785.2:c.79A>C, rs2072671, 2072671, NC_000001.10:g.20915701=, NP_001776.1:p.Lys27Gln, NC_000001.10:g.20915701A>C, rs57221291, NC_000001.11:g.20589208A>C, NC_000001.11:g.20589208= +PA166157013 rs2073016 PA24890 APOBEC2 NC_000006.12:41053183 1 0 0 0 0 2073016, rs2073016, NC_000006.11:g.41020922T>C, NC_000006.12:g.41053183=, NC_000006.12:g.41053183T>C, NM_006789.3:c.-165T>C, NC_000006.11:g.41020922= +PA166170265 rs2073478 PA24695 ALDH1B1 NC_000009.12:38396068 1 0 0 0 0 NP_000683.3:p.Arg107His, 2073478, NG_012253.1:g.8364G>A, NP_000683.3:p.Arg107=, rs2073478, NC_000009.11:g.38396065G>A, 17857639, NC_000009.12:g.38396068=, NC_000009.11:g.38396065=, NC_000009.11:g.38396065G>T, NC_000009.12:g.38396068G>T, NG_012253.1:g.8364=, NG_012253.1:g.8364G>T, 60107705, NC_000009.12:g.38396068G>A, 56596067, NP_000683.3:p.Arg107Leu, 17844915 +PA166180904 rs2073498 PA34245 RASSF1 NC_000003.12:50332115 1 0 0 0 0 NP_009113.3:p.Ala133Ser, NP_009113.3:p.Ala133=, 2073498, rs2073498, NG_023270.1:g.13822=, NG_023270.1:g.13822G>T, NC_000003.12:g.50332115C>A, 52807901, NC_000003.12:g.50332115=, NC_000003.11:g.50369546=, NC_000003.11:g.50369546C>A +PA166157573 rs2073618 PA26736,PA36602 COLEC10,TNFRSF11B NC_000008.11:118951813 3 1 0 0 0 XM_005250756.2:c.-625G>C, rs60810341, NC_000008.11:g.118951813G>C, XM_005250756.1:c.-625G>C, 17751701, NP_002537.3:p.Asn3=, NC_000008.11:g.118951813=, 60810341, rs17751701, NM_002546.3:c.9C>G, NC_000008.10:g.119964052G>C, NP_002537.3:p.Asn3Lys, NG_012202.1:g.5332C>G, 2073618, NG_012202.1:g.5332=, rs2073618, NC_000008.10:g.119964052= +PA166157014 rs2073724 PA36384 TCF19 NC_000006.12:31161930 1 1 0 0 0 XP_005272922.1:p.Pro241Leu, XP_011545579.1:p.Pro241Leu, rs17457224, XP_005275344.1:p.Pro241Leu, XM_005275449.2:c.722C>T, XM_005275288.1:c.722C>T, XP_005275212.1:p.Pro241Leu, 117671247, XM_005275157.1:c.722C>T, 58398878, rs17857685, NT_167247.2:g.2506044C>T, XP_005272923.1:p.Pro241Leu, XM_005275450.1:c.722C>T, XP_011513131.1:p.Pro241Leu, XM_005275020.1:c.722C>T, rs117671247, 17853160, XM_005249336.1:c.722C>T, XM_005272866.1:c.722C>T, 17857685, NC_000006.11:g.31129707=, XM_011548461.1:c.722C>T, XM_005249334.2:c.722C>T, XM_005275018.1:c.722C>T, NP_009040.2:p.Pro241=, XM_011547680.1:c.722C>T, 2073724, NC_000006.12:g.31161930C>T, NT_167249.2:g.2465345C>T, NP_001305837.1:p.Pro241Leu, XP_011546380.1:p.Pro241Leu, XM_005272867.1:c.722C>T, XP_005275077.1:p.Pro241Leu, XP_011546202.1:p.Pro241Leu, NG_054878.1:g.1309G>A, XP_005275508.1:p.Pro241Leu, XM_011547277.1:c.722C>T, XP_011545982.1:p.Pro241Leu, XP_005275645.1:p.Pro241Leu, XP_011546763.1:p.Pro241Leu, XP_005272924.1:p.Pro241Leu, NP_009040.2:p.Pro241Leu, rs115538919, XM_005275289.1:c.722C>T, XM_011547278.1:c.722C>T, XM_005272868.1:c.722C>T, XM_005275589.1:c.722C>T, XP_005275345.1:p.Pro241Leu, XP_005249393.1:p.Pro241Leu, NM_001077511.1:c.722C>T, NC_000006.12:g.31161930=, XM_005249334.1:c.722C>T, NM_001318908.1:c.722C>T, XM_005275588.1:c.722C>T, XP_011545580.1:p.Pro241Leu, NT_167246.2:g.2472430C>T, XP_005249391.1:p.Pro241Leu, XP_005275214.1:p.Pro241Leu, XP_005275506.1:p.Pro241Leu, XM_005275019.1:c.722C>T, XP_005272925.1:p.Pro241Leu, XM_005272865.1:c.722C>T, XM_005275451.1:c.722C>T, XP_005275076.1:p.Pro241Leu, XM_005275449.1:c.722C>T, NM_007109.2:c.722C>T, XM_005275287.1:c.722C>T, XP_005249392.1:p.Pro241Leu, 17457224, XP_005275075.1:p.Pro241Leu, NT_113891.3:g.2644353C>T, rs58398878, NC_000006.11:g.31129707C>T, XM_011548078.1:c.722C>T, XP_005275646.1:p.Pro241Leu, XP_005275346.1:p.Pro241Leu, NT_167245.2:g.2421245C>T, rs2073724, XP_005275213.1:p.Pro241Leu, XM_005275156.1:c.722C>T, NP_001070979.1:p.Pro241Leu, rs17853160, 115538919, XP_005275507.1:p.Pro241Leu, NT_167248.2:g.2419962C>T, XM_011547900.1:c.722C>T, XM_005249335.1:c.722C>T, NG_054878.1:g.1309=, XM_005275155.1:c.722C>T, XM_011514829.1:c.722C>T +PA166155028 rs2074087 PA244 ABCC1 NC_000016.10:16090375 3 0 0 0 0 XM_005255327.1:c.2335-30C>G, NG_028268.2:g.145799=, XM_005255326.1:c.2461-30C>G, 57718684, 2074087, NC_000016.9:g.16184232=, NM_004996.3:c.2461-30C>G, NM_004996.3:c.2461-30G>C, NT_187607.1:g.1748233G=, XM_011522498.1:c.2368-30C>G, XM_011522498.1:c.2368-30G>C, NC_000016.9:g.16184232C>A, NC_000016.10:g.16090375=, XM_005255329.1:c.2284-30C>G, rs57718684, NC_000016.9:g.16184232C>G, NG_028268.1:g.145799C>G, NC_000016.10:g.16090375C>G, NG_028268.1:g.145799=, NC_000016.10:g.16090375C=, NG_028268.1:g.145799C>A, NT_187607.1:g.1748233G>C, NC_000016.10:g.16090375C>A, XM_005255328.1:c.2323-30C>G, rs2074087, NG_028268.1:g.145799C=, XM_011522497.1:c.2437-30C>G, XM_011522497.1:c.2437-30G>C, NG_028268.2:g.145799C>A, NG_028268.2:g.145799C>G +PA166255561 rs2074192 PA425 ACE2 NC_000023.11:15564667 2 0 0 0 0 2074192, NC_000023.11:g.15564667C>T, 58632466, NG_012575.2:g.42492G>A, NG_012575.1:g.42403=, NG_012575.2:g.42492=, NC_000023.11:g.15564667=, NC_000023.10:g.15582790=, rs2074192, NG_012575.1:g.42403G>A, NC_000023.10:g.15582790C>T +PA166253181 rs2074216 PA27542 DVL2 NC_000017.11:7230290 1 0 0 0 0 NC_000017.10:g.7133609G>A, NP_004413.1:p.Ser135=, 2074216, NC_000017.10:g.7133609=, rs2074216, NC_000017.11:g.7230290G>A, 11549558, NG_033038.1:g.9255=, NC_000017.11:g.7230290=, NG_033038.1:g.9255C>T +PA166203041 rs2074315 PA24395 ABCC8 NC_000011.10:17417343 1 0 0 0 0 61298997, NG_008867.1:g.64560=, NC_000011.9:g.17438890A>C, 2074315, NC_000011.10:g.17417343=, 56510698, rs2074315, NC_000011.9:g.17438890=, NG_008867.1:g.64560T>G, NC_000011.10:g.17417343A>C +PA166156538 rs2074390 PA27664 EGF NC_000004.12:109988860 1 0 0 0 0 rs58663575, NG_011441.1:g.80977G>A, NG_011441.2:g.80977=, XM_005262797.2:c.2608+151G>A, NC_000004.11:g.110910016G>A, rs2074390, XM_006714124.2:c.2734+151G>A, 58663575, XR_427532.2:n.3187+151G>A, XM_011531708.1:c.2734+151G>A, rs17253568, XM_005262796.2:c.2734+151G>A, XM_005262800.2:c.2492-4387G>A, XM_005262796.1:c.2734+151G>A, NG_011441.1:g.80977=, XM_005262799.1:c.2734+151G>A, NC_000004.11:g.110910016=, NG_011441.2:g.80977G>A, XM_005262797.1:c.2608+151G>A, XM_005262801.1:c.2491+5319G>A, XR_938699.1:n.3187+151G>A, NM_001178131.2:c.2608+151G>A, 17253568, XM_005262798.2:c.2492-4387G>A, XM_005262800.1:c.2492-4387G>A, NC_000004.12:g.109988860G>A, 2074390, NC_000004.12:g.109988860=, XM_005262801.2:c.2491+5319G>A, NM_001178130.2:c.2734+151G>A, NM_001963.5:c.2734+151G>A, XM_005262798.1:c.2492-4387G>A, XM_011531707.1:c.2623+151G>A +PA166155379 rs2074880 PA26007 CACNA1A NC_000019.10:13261817 1 0 0 0 0 rs58047627, NM_001174080.1:c.4093-207T>G, XM_005260066.1:c.4093-207T>G, NC_000019.10:g.13261817=, NC_000019.9:g.13372631A>C, NG_011569.1:g.249644=, NM_023035.2:c.4102-207T>G, 2074880, NM_001127222.1:c.4090-207T>G, XM_005260065.1:c.4099-207T>G, XM_005260067.1:c.4093-207T>G, NG_011569.1:g.249644T>G, 58047627, XM_005260068.1:c.4090-207T>G, rs2074880, NM_001127221.1:c.4093-207T>G, NC_000019.9:g.13372631=, NC_000019.10:g.13261817A>C, NM_000068.3:c.4102-207T>G +PA166267521 rs2074900 PA27121 CYP4F2 NC_000019.10:15886010 1 0 0 0 0 2074900, 2230747, 61124408, NG_007971.2:g.17065C>T, 118040850, NC_000019.9:g.15996820G>A, NC_000019.9:g.15996820=, NG_007971.2:g.17065=, NP_001073.3:p.His343=, NC_000019.10:g.15886010=, NC_000019.10:g.15886010G>A, rs2074900 +PA166185417 rs2074957 PA33329 PIP5K1C NC_000019.10:3653527 1 1 0 0 0 NG_012161.1:g.51921G>C, NG_012161.2:g.51921G>T, NC_000019.10:g.3653527=, NC_000019.10:g.3653527C>A, NG_012161.1:g.51921G>A, NP_036530.1:p.Ser228=, NC_000019.9:g.3653525C>T, NG_012161.2:g.51921=, NC_000019.10:g.3653527C>G, NC_000019.10:g.3653527C>T, NG_012161.1:g.51921G>T, NG_012161.2:g.51921G>C, NC_000019.9:g.3653525C>G, NG_012161.2:g.51921G>A, NG_012161.1:g.51921=, NC_000019.9:g.3653525=, 57244700, NC_000019.9:g.3653525C>A, rs2074957, 2074957 +PA166155666 rs2075252 PA30452 LRP2 NC_000002.12:169154475 3 1 0 0 0 NC_000002.12:g.169154475T>A, rs52808684, NC_000002.11:g.170010985T>C, XP_011509485.1:p.Lys4051Glu, rs386556527, NC_000002.11:g.170010985T>A, NP_004516.2:p.Lys4094=, XM_005246551.1:c.9991A>G, NP_004516.2:p.Lys4094Ter, NG_012634.1:g.213138A>T, NG_012634.1:g.213138=, 17848193, XP_005246608.1:p.Lys3331Glu, rs59573352, NP_004516.2:p.Lys4094Glu, NG_012634.1:g.213138A>G, 52808684, NC_000002.11:g.170010985=, XM_011511184.1:c.9991A>G, rs2075252, 59573352, 2075252, XP_011509486.1:p.Lys3331Glu, NM_004525.2:c.12280A>G, NC_000002.12:g.169154475T>C, 386556527, XM_011511183.1:c.12151A>G, rs17848193, NC_000002.12:g.169154475= +PA166156085 rs2075507 PA117,PA38302 COMT,TXNRD2 NC_000022.11:19940569 1 0 0 0 0 2097603, NG_011835.1:g.6268C>A, rs2097603, 2234763, rs2234763, XM_011529890.1:c.-1714G>A, NG_011526.1:g.3830G>T, NC_000022.11:g.19940569G>T, NG_011835.1:g.6268=, XM_005261216.1:c.103+1132C>T, NC_000022.10:g.19928092G>A, XM_011529891.1:c.-1992G>A, rs4646309, NC_000022.10:g.19928092G>C, NM_006440.4:c.103+1132C>T, NC_000022.11:g.19940569G>A, NC_000022.10:g.19928092=, NC_000022.11:g.19940569G>C, rs2075507, 2075507, NC_000022.11:g.19940569=, 3937420, NM_000754.3:c.-1420G>A, XM_005261214.1:c.103+1132C>T, XM_011529887.1:c.-1420G>A, NC_000022.10:g.19928092G>T, XM_005261217.1:c.103+1132C>T, 4646309, rs3937420, NG_011526.1:g.3830G>A, NG_011526.1:g.3830G>C, NG_011526.1:g.3830=, NM_006440.3:c.103+1132C>T, NG_011835.1:g.6268C>T, NG_011835.1:g.6268C>G, NM_001282512.1:c.103+1132C>T, XM_005261229.1:c.-1714G>A +PA166157015 rs2075572 PA31945 OPRM1 NC_000006.12:154090869 14 5 0 0 0 XR_245536.1:n.830-83G>C, NM_001285522.1:c.291-27814G>C, NM_001145285.2:c.644-83G>C, rs17174815, NC_000006.12:g.154090869G>C, XM_011535849.1:c.923-83G>C, XM_011535856.1:c.344-83G>C, XM_011535851.1:c.344-83G>C, NG_021208.2:g.85369=, NM_001145286.2:c.644-83G>C, NM_001145281.2:c.401-83G>C, NM_001285523.1:c.644-83G>C, rs56680128, NM_001285526.1:c.344-83G>C, NR_104350.1:n.425-83G>C, 56680128, XM_011535855.1:c.344-83G>C, 17210094, XM_011535861.1:c.344-83G>C, NM_001008503.2:c.644-83G>C, NM_001145280.3:c.344-83G>C, NM_001145279.3:c.923-83G>C, NM_001145282.2:c.644-83G>C, 2075572, XM_011535860.1:c.344-83G>C, XM_011535850.1:c.437-83G>C, 17174815, XR_245535.1:n.830-83G>C, NR_104351.1:n.778-83G>C, XM_011535859.1:c.344-83G>C, XM_011535854.1:c.344-83G>C, NM_000914.4:c.644-83G>C, NR_104348.1:n.778-83G>C, NG_021208.1:g.85369G>C, NM_001008504.3:c.644-83G>C, NM_001145283.2:c.644-83G>C, XM_011535862.1:c.344-83G>C, XR_245534.1:n.830-83G>C, NM_001285524.1:c.923-83G>C, NM_001285528.1:c.344-83G>C, XM_005267002.1:c.830-83G>C, XM_011535858.1:c.344-83G>C, NM_001008505.2:c.644-83G>C, XM_011535853.1:c.344-83G>C, rs17210094, NG_021208.2:g.85369G>C, XR_245537.1:n.477-83G>C, NC_000006.11:g.154412004G>C, NR_104349.1:n.778-83G>C, NC_000006.11:g.154412004=, NM_001145287.2:c.344-83G>C, NM_001145284.3:c.644-83G>C, XM_011535857.1:c.344-83G>C, rs2075572, XM_005267003.1:c.344-83G>C, NC_000006.12:g.154090869=, NM_001285527.1:c.344-83G>C, XM_011535852.1:c.344-83G>C +PA166155380 rs2075650 PA38274 TOMM40 NC_000019.10:44892362 1 0 0 0 0 NC_000019.9:g.45395619=, rs60321974, NC_000019.9:g.45395619A>G, XM_005258411.2:c.275-31A>G, NC_000019.10:g.44892362A>G, NM_001128917.1:c.275-31A>G, XM_005258411.1:c.275-31A>G, NG_042854.1:g.6143A>G, NM_001128916.1:c.275-31A>G, NC_000019.10:g.44892362=, rs2075650, 2075650, 60321974, NM_006114.2:c.275-31A>G, NG_042854.1:g.6143= +PA166185207 rs2075652 PA27478 DRD2 NC_000011.10:113424176 3 0 0 0 0 NC_000011.9:g.113294898=, NC_000011.10:g.113424176=, rs2075652, 2075652, NC_000011.10:g.113424176G>A, 60443616, NG_008841.1:g.56104C>T, NG_008841.1:g.56104=, NC_000011.9:g.113294898G>A +PA166169979 rs2075685 PA162405909,PA37423 TMEM167A,XRCC4 NC_000005.10:83076846 2 1 0 0 0 36209440, NC_000005.9:g.82372665G>T, NC_000005.10:g.83076846G>A, NG_047086.1:g.4438G>T, NG_047086.1:g.4438=, NC_000005.9:g.82372665=, rs2075685, 2075685, 17284176, 61443311, NG_047086.1:g.4438G>A, NC_000005.10:g.83076846G>T, NC_000005.10:g.83076846=, NC_000005.9:g.82372665G>A +PA166264141 rs2075748 PA26484 CHRM1 NC_000011.10:62920797 1 0 0 0 0 386556550, NC_000011.10:g.62920797C>G, NC_000011.9:g.62688269C>T, NC_000011.9:g.62688269C>G, 57766408, NC_000011.10:g.62920797C>T, NC_000011.10:g.62920797=, NC_000011.9:g.62688269=, rs2075748, 2075748, 116918731 +PA166154788 rs2075797 PA287 PTGER2 NC_000014.9:52313933 1 1 0 0 0 NC_000014.8:g.52780651C>G, NC_000014.9:g.52313933=, NM_000956.3:c.-616C>G, NG_013082.1:g.4636=, rs2075797, 2075797, NC_000014.9:g.52313933C>G, NG_013082.1:g.4636C>G, NC_000014.8:g.52780651= +PA166179019 rs2076169 PA33557 PPARD NC_000006.12:35420702 2 0 0 0 0 57824555, NG_012345.1:g.83145=, 56576459, NC_000006.11:g.35388479A>G, NG_012345.2:g.83145A>C, NG_012345.2:g.83145A>G, NG_012345.1:g.83145A>G, rs2076169, 2076169, NC_000006.12:g.35420702A>C, NC_000006.11:g.35388479=, NC_000006.12:g.35420702=, NC_000006.11:g.35388479A>C, NC_000006.12:g.35420702A>G, NG_012345.1:g.83145A>C, NG_012345.2:g.83145= +PA166153668 rs2076222 PA30278 LAMB3 NC_000001.11:209618584 1 0 0 0 0 NM_001017402.1:c.2777C>A, NP_001017402.1:p.Ala926Asp, NG_007116.1:g.38892C>A, NC_000001.10:g.209791929G>T, NC_000001.10:g.209791929=, NP_000219.2:p.Ala926Asp, NM_000228.2:c.2777C>A, XP_005273181.1:p.Ala926Asp, 58828090, NP_000219.2:p.Ala926=, XM_005273124.3:c.2777C>A, NC_000001.11:g.209618584=, NG_007116.1:g.38892=, NC_000001.11:g.209618584G>T, rs2076222, 2076222, NM_001127641.1:c.2777C>A, rs58828090, NP_001121113.1:p.Ala926Asp, XM_005273124.1:c.2777C>A +PA166249501 rs2076295 PA27505 DSP NC_000006.12:7562999 1 0 0 0 0 NG_008803.1:g.26363T>C, NG_008803.1:g.26363T>A, 56876573, NC_000006.11:g.7563232=, NG_008803.1:g.26363T>G, NG_008803.1:g.26363=, NC_000006.12:g.7562999T>C, NC_000006.12:g.7562999T>A, NC_000006.11:g.7563232T>A, rs2076295, 2076295, NC_000006.11:g.7563232T>C, NC_000006.12:g.7562999=, NC_000006.12:g.7562999T>G, 17336960, NC_000006.11:g.7563232T>G +PA166153669 rs2076322 PA28188 FMO4 NC_000001.11:171322878 1 0 0 0 0 XM_006711243.2:c.133-126A>G, 386556581, XM_005245046.1:c.133-1260A>G, rs17838245, XM_005245046.2:c.133-1260A>G, XM_005245048.2:c.133-126A>G, 57231564, NC_000001.11:g.171322878=, XM_011509347.1:c.133-126A>G, NC_000001.10:g.171292017=, NC_000001.10:g.171292017A>G, XM_011509348.1:c.-108-1260A>G, NC_000001.11:g.171322878A>G, XM_011509349.1:c.133-126A>G, rs2076322, 17838245, XM_005245045.1:c.-18-126A>G, XM_005245045.2:c.-18-126A>G, XM_005245048.1:c.133-126A>G, rs386556581, 2076322, XM_005245047.1:c.133-126A>G, NM_002022.2:c.133-126A>G, rs57231564 +PA166156086 rs2076369 PA33760 PICK1 NC_000022.11:38067645 1 1 0 0 0 NC_000022.11:g.38067645T>G, NM_001039584.1:c.283-59T>G, NM_001039583.1:c.283-59T>G, XM_011530517.1:c.283-59T>G, NC_000022.11:g.38067645T>C, NC_000022.10:g.38463652T>G, NC_000022.11:g.38067645=, NC_000022.10:g.38463652T>C, NM_012407.3:c.283-59T>G, NC_000022.10:g.38463652T>A, XM_006724379.1:c.-35-1388T>G, XM_006724380.1:c.-35-1388T>G, NC_000022.10:g.38463652=, rs2076369, 2076369, XR_937962.1:n.744-59T>G, NC_000022.11:g.38067645T>A +PA166280084 rs2076549 PA134902131 SULF2 NC_000020.11:47661572 1 0 0 0 0 NC_000020.11:g.47661572=, NC_000020.10:g.46290316=, NC_000020.10:g.46290316A>C, 57910086, NC_000020.10:g.46290316A>T, NC_000020.11:g.47661572A>G, NC_000020.11:g.47661572A>T, rs2076549, 2076549, NC_000020.10:g.46290316A>G, NC_000020.11:g.47661572A>C +PA166157016 rs2076828 PA330 SLC22A3 NC_000006.12:160451754 2 1 0 0 0 NC_000006.11:g.160872786C>G, XM_005267106.1:c.*698C>G, rs2076828, 2076828, XM_011536075.1:c.*698C>G, 17832122, NC_000006.11:g.160872786=, XM_005267106.3:c.*698C>G, NC_000006.12:g.160451754=, 3734179, rs3734179, NC_000006.12:g.160451754C>G, XM_011536077.1:c.*698C>G, NM_021977.3:c.*698C>G, rs17832122, XM_011536076.1:c.*698C>G +PA166157017 rs2077647 PA156 ESR1 NC_000006.12:151807942 2 0 0 0 0 NC_000006.11:g.152129077T>C, XP_005266913.1:p.Ser10=, NP_001116214.1:p.Ser10=, XP_011533847.1:p.Ser10=, NC_000006.11:g.152129077T>A, XP_006715437.1:p.Ser10=, NC_000006.11:g.152129077=, NC_000006.12:g.151807942T>C, NP_001278159.1:p.Ser10=, NC_000006.12:g.151807942T>A, NP_000116.2:p.Ser10=, XM_011535546.1:c.30T>C, 17847075, 58961143, rs17847075, NG_008493.2:g.156252=, NM_001291230.1:c.30T>C, NP_001278170.1:p.Ser10=, XM_011535545.1:c.30T>C, XM_005266856.1:c.30T>C, NM_001122741.1:c.30T>C, XP_011533848.1:p.Ser10=, 2077647, 386556657, rs2077647, XM_011535543.1:c.30T>C, rs58961143, NP_001116212.1:p.Ser10=, XM_011535548.1:c.-458T>C, XP_011533845.1:p.Ser10=, XP_011533849.1:p.Ser10=, NM_001291241.1:c.30T>C, rs386556657, NM_000125.3:c.30T>C, NG_008493.1:g.122447T>C, XM_006715375.2:c.-1397T>C, NP_001116213.1:p.Ser10=, XM_005266857.1:c.30T>C, XP_011533846.1:p.Ser10=, NM_001122742.1:c.30T>C, XP_005266914.1:p.Ser10=, XM_011535547.1:c.30T>C, XM_011535544.1:c.30T>C, XM_006715374.2:c.30T>C, NG_008493.2:g.156252T>A, NG_008493.2:g.156252T>C, NM_001122740.1:c.30T>C, NC_000006.12:g.151807942= +PA166154878 rs2077737 NC_000015.10:58186751 1 0 0 0 0 NC_000015.10:g.58186751T>C, 386556660, 57816743, NG_011975.1:g.53543T>C, NC_000015.10:g.58186751=, rs386556660, 2077737, NG_011975.2:g.53543T>A, rs2077737, NC_000015.9:g.58478950T>C, NC_000015.9:g.58478950=, rs57816743, NC_000015.10:g.58186751T>A, NG_011975.2:g.53543T>C, NC_000015.9:g.58478950T>A, NG_011975.2:g.53543= +PA166170572 rs2078267 PA38295 SLC22A11 NC_000011.10:64566642 1 0 0 0 0 rs2078267, 386556693, 17373020, 2078267, NC_000011.9:g.64334114C>A, NC_000011.9:g.64334114C>T, 60912100, NC_000011.9:g.64334114=, NC_000011.10:g.64566642C>T, NC_000011.10:g.64566642=, NC_000011.10:g.64566642C>A +PA166185598 rs2078371 NC_000001.11:115134562 1 0 0 0 0 NC_000001.10:g.115677183T>C, NC_000001.11:g.115134562T>C, NC_000001.11:g.115134562=, 60038440, 17640087, NC_000001.10:g.115677183=, rs2078371, 2078371 +PA166184627 rs208293 PA32866 P2RX7 NC_000012.12:121162377 1 0 0 0 0 57443434, NC_000012.12:g.121162377C>T, 208293, NC_000012.11:g.121600180C>T, NC_000012.11:g.121600180=, NG_011471.2:g.34503C>G, NC_000012.12:g.121162377C>A, 486479, NC_000012.12:g.121162377=, NG_011471.2:g.34503=, NG_011471.2:g.34503C>A, rs208293, NC_000012.12:g.121162377C>G, NC_000012.11:g.121600180C>A, NC_000012.11:g.121600180C>G, NG_011471.2:g.34503C>T +PA166156342 rs2082940 PA134933118 ADIPOQ NC_000003.12:186856375 1 0 0 0 0 NM_004797.3:c.*1671T>C, NC_000003.11:g.186574164T>A, NG_021140.1:g.18702T>C, NC_000003.12:g.186856375=, NC_000003.12:g.186856375T>A, NC_000003.11:g.186574164T>C, NM_001177800.1:c.*1671T>C, NG_021140.1:g.18702T>G, rs17503536, XM_011513324.1:c.*1671T>C, rs17846875, 60359478, rs60359478, NG_021140.1:g.18702=, rs2082940, 2082940, 17846875, NR_046662.1:n.-252A>G, NC_000003.12:g.186856375T>C, 17503536, NC_000003.11:g.186574164T>G, NC_000003.11:g.186574164=, NG_021140.1:g.18702T>A, NC_000003.12:g.186856375T>G +PA166153670 rs2088514 PA143485536 MIA3 NC_000001.11:222658030 1 0 0 0 0 NC_000001.10:g.222831372A>G, XM_006711304.2:c.4431-692A>G, rs2088514, XM_005273121.1:c.4608-692A>G, NC_000001.11:g.222658030=, NC_000001.10:g.222831372=, rs9442456, 9442456, XM_011509513.1:c.*54A>G, XM_005273122.1:c.1242-692A>G, rs17163381, 2088514, NM_001300867.1:c.1242-692A>G, XM_005273121.3:c.4608-692A>G, NM_198551.3:c.4608-692A>G, 17163381, NC_000001.11:g.222658030A>G +PA166271661 rs2088885 PA134893180 TNIK NC_000003.12:171253502 1 0 0 0 0 NC_000003.11:g.170971291C>T, NC_000003.12:g.171253502=, 56718918, rs2088885, NG_054934.1:g.211907G>A, 2088885, NC_000003.12:g.171253502C>T, NG_054934.1:g.211907=, NG_054934.1:g.211907G>T, NC_000003.12:g.171253502C>A, NC_000003.11:g.170971291C>A, NC_000003.11:g.170971291= +PA166170006 rs2094258 PA27851 ERCC5 NC_000013.11:102844409 1 0 0 0 0 NC_000013.10:g.103496759=, NG_007146.1:g.3586C>G, NC_000013.11:g.102844409C>G, NC_000013.11:g.102844409C>T, rs2094258, 2094258, NC_000013.10:g.103496759C>T, 60252193, NC_000013.11:g.102844409=, NC_000013.10:g.103496759C>G, NG_007146.1:g.3586=, NG_007146.1:g.3586C>T +PA166171049 rs209474 NC_000006.12:32956807 1 1 0 0 0 57848964, 209474, 116280628, 17584046, 502738, 117030520, NC_000006.12:g.32956807=, NG_012006.1:g.1316=, NC_000006.11:g.32924584A>G, rs209474, 181613842, NG_012006.1:g.1316T>C, NC_000006.12:g.32956807A>G, NC_000006.11:g.32924584= +PA166153562 rs209709 PA27823 EPHA8 NC_000001.11:22551320 2 0 0 0 0 rs209709, 61653215, NC_000001.10:g.22877813G>T, NC_000001.11:g.22551320G>A, NC_000001.11:g.22551320=, NC_000001.11:g.22551320G>C, 613038, NC_000001.10:g.22877813G>A, NC_000001.10:g.22877813G>C, 209709, rs61653215, NC_000001.10:g.22877813=, NC_000001.11:g.22551320G>T, rs613038 +PA166299601 rs2097432 NC_000006.12:32622994 2 1 0 0 0 35579351, 117521222, 9271581, NC_000006.11:g.32590771T>C, 2097432, rs2097432, NC_000006.11:g.32590771T>A, NC_000006.11:g.32590771=, 75104809, NC_000006.12:g.32622994=, 115656411, NC_000006.12:g.32622994T>C, NC_000006.12:g.32622994T>A +PA166153995 rs2104286 PA29828 IL2RA NC_000010.11:6057082 2 0 0 0 0 NM_001308243.1:c.64+5006A>G, NC_000010.10:g.6099045T>C, NC_000010.11:g.6057082T>C, NM_000417.2:c.64+5006A>G, XM_005252446.1:c.64+5006A>G, rs57657975, 56454393, NC_000010.11:g.6057082=, NG_007403.1:g.10228A>G, NG_007403.1:g.10228=, NM_001308242.1:c.64+5006A>G, rs56454393, 2104286, rs2104286, 57657975, XM_005252447.1:c.64+5006A>G, NC_000010.10:g.6099045= +PA166153671 rs2106089 PA36101 SPTA1 NC_000001.11:158658837 1 0 0 0 0 NG_011474.1:g.32880=, NC_000001.11:g.158658837=, NC_000001.10:g.158628627=, XM_011509918.1:c.2588-1143T>C, NC_000001.10:g.158628627A>G, NM_003126.2:c.2588-1143T>C, XM_011509916.1:c.2588-1143T>C, XM_011509919.1:c.2588-1143T>C, XR_921911.1:n.2701-1143T>C, NC_000001.11:g.158658837A>G, 4576658, rs4576658, NG_011474.1:g.32880T>C, rs3945341, 3944272, rs3944272, XM_011509917.1:c.2588-1143T>C, rs2106089, XR_921912.1:n.2706-1143T>C, 2106089, 3945341 +PA166157865 rs2106809 PA425 ACE2 NC_000023.11:15599938 7 1 0 0 0 NC_000023.11:g.15599938=, XM_011545551.1:c.186+788T>C, NC_000023.11:g.15599938A>C, NC_000023.11:g.15599938A>G, NC_000023.10:g.15618061A>G, rs2106809, 59690101, XM_011545550.1:c.186+788T>C, NC_000023.10:g.15618061A>C, NG_012575.1:g.7132=, 2106809, XM_011545552.1:c.186+788T>C, NC_000023.10:g.15618061=, XM_005274571.1:c.186+788T>C, XM_011545549.1:c.186+788T>C, NC_000023.11:g.15599938A>T, NM_021804.2:c.186+788T>C, NC_000023.10:g.15618061A>T, rs59690101, NG_012575.1:g.7132T>G, NG_012575.1:g.7132T>A, NG_012575.1:g.7132T>C +PA166154351 rs2107425 PA29091,PA30953 H19,MRPL23 NC_000011.10:1999845 1 0 0 0 0 NC_000011.10:g.1999845C>T, 2107425, 57759891, rs2107425, NG_016165.1:g.2991G>A, XM_011520274.1:c.492-11696C>T, NC_000011.10:g.1999845=, XM_011520273.1:c.498-11696C>T, NG_041945.1:g.1201=, XM_011520275.1:c.498-11696C>T, NC_000011.9:g.2021075=, NR_131223.1:n.-1970G>A, NG_041945.1:g.1201C>T, NR_131224.1:n.249+1373G>A, NC_000011.9:g.2021075C>T, NG_016165.1:g.2991=, NR_002196.2:n.-1970G>A, rs57759891 +PA166156783 rs2107506 PA30330 LECT2 NC_000005.10:135964588 1 0 0 0 0 NC_000005.10:g.135964588C>G, rs17645778, 2107506, rs2107506, NC_000005.9:g.135300277C>G, NC_000005.9:g.135300277=, 17645778, NC_000005.10:g.135964588= +PA166154527 rs2107614 PA33782 WNK1 NC_000012.12:793913 1 0 0 0 0 2107614, NG_007984.3:g.45855T>G, rs2107614, XM_011520997.1:c.760-19729T>C, XM_005253741.1:c.760-19729T>C, NC_000012.11:g.903079=, XM_011521008.1:c.760-19729T>C, NG_007984.3:g.45855T>C, XM_005253733.1:c.760-19729T>C, XM_011521003.1:c.760-19729T>C, NG_007984.3:g.45855T>A, XM_005253738.1:c.760-19729T>C, NM_018979.3:c.760-19729T>C, XM_005253740.1:c.760-19729T>C, rs60182845, XM_011521004.1:c.760-19729T>C, XM_005253736.1:c.760-19729T>C, XM_005253742.1:c.760-19729T>C, XM_011521009.1:c.760-19729T>C, NG_007984.2:g.45855T>C, NM_213655.4:c.760-19729T>C, XM_005253737.1:c.760-19729T>C, XM_011521000.1:c.760-19729T>C, 60182845, XM_011520998.1:c.760-19729T>C, NG_007984.3:g.45855=, NM_014823.2:c.760-19729T>C, XM_005253735.1:c.760-19729T>C, NC_000012.12:g.793913T>C, XM_011521001.1:c.760-19729T>C, NC_000012.12:g.793913T>A, NC_000012.12:g.793913T>G, XM_011520999.1:c.760-19729T>C, XM_005253734.1:c.760-19729T>C, NC_000012.11:g.903079T>A, NC_000012.11:g.903079T>C, XM_011521002.1:c.760-19729T>C, NC_000012.12:g.793913=, XM_011521006.1:c.760-19729T>C, XM_006719003.1:c.760-19729T>C, NC_000012.11:g.903079T>G, XM_011521007.1:c.760-19729T>C, XM_005253739.1:c.760-19729T>C, NM_001184985.1:c.760-19729T>C +PA166155381 rs2108622 PA27121 CYP4F2 NC_000019.10:15879621 149 9 2 1 0 NC_000019.10:g.15879621=, NG_007971.2:g.23454G>C, NP_001073.3:p.Val433Met, NP_001073.3:p.Val433Leu, NC_000019.9:g.15990431C>T, NG_007971.2:g.23454G>A, 52819608, 57319528, NC_000019.10:g.15879621C>T, NC_000019.9:g.15990431C>G, NC_000019.9:g.15990431=, rs116975254, NG_007971.2:g.23454=, NP_001073.3:p.Val433=, NM_001082.4:c.1297G>A, 116975254, rs52819608, rs57319528, rs2108622, 2108622, NC_000019.10:g.15879621C>G +PA166155382 rs2108623 PA27121 CYP4F2 NC_000019.10:15906196 2 1 0 0 0 17454858, 2108623, NC_000019.10:g.15906196=, rs59294251, 3947944, 59294251, NC_000019.9:g.16017006=, rs17454858, NC_000019.10:g.15906196G>A, 4429395, NC_000019.9:g.16017006G>A, rs3947944, rs2108623, rs4429395 +PA166280082 rs2110179 NC_000004.12:27346038 1 0 0 0 0 NC_000004.11:g.27347660A>G, NC_000004.11:g.27347660=, NC_000004.12:g.27346038A>G, rs2110179, 2110179, NC_000004.11:g.27347660A>T, NC_000004.12:g.27346038A>C, NC_000004.11:g.27347660A>C, NC_000004.12:g.27346038A>T, 59478552, NC_000004.12:g.27346038= +PA166156719 rs211037 PA28501 GABRG2 NC_000005.10:162101274 2 0 0 0 0 XM_005265870.1:c.588C>T, NC_000005.10:g.162101274C>T, NC_000005.9:g.161528280C>T, NP_944493.2:p.Asn196=, NP_944494.1:p.Asn196=, NM_198904.2:c.588C>T, rs3765200, 3765200, rs61071827, NP_000807.2:p.Asn196=, NC_000005.9:g.161528280=, rs211037, NG_009290.1:g.38633C>T, XP_005265927.1:p.Asn196=, NM_198903.2:c.588C>T, NC_000005.10:g.162101274=, NG_009290.1:g.38633=, 211037, 61071827, NM_000816.3:c.588C>T +PA166232231 rs211105 PA355 TPH1 NC_000011.10:18033757 1 0 0 0 0 NG_011947.2:g.12032=, NG_011947.1:g.12032A>C, rs211105, NC_000011.9:g.18055304T>G, 1302839, NG_011947.1:g.12032=, 552680, NC_000011.10:g.18033757T>G, 57019343, NG_011947.2:g.12032A>C, 1068129, NC_000011.10:g.18033757=, NC_000011.9:g.18055304=, 211105 +PA166177552 rs2111375 PA36302 TACR1 NC_000002.12:75200752 1 0 0 0 0 NC_000002.12:g.75200752=, NC_000002.11:g.75427878=, NC_000002.11:g.75427878G>A, NC_000002.12:g.75200752G>A, NG_029522.1:g.3768C>T, 3755472, NG_029522.1:g.3768=, 2111375, 52805806, rs2111375 +PA166155383 rs2112460 PA26007 CACNA1A NC_000019.10:13479598 1 1 0 0 0 XM_005260067.1:c.294-24386C>T, NC_000019.10:g.13479598G>A, NM_001127222.1:c.294-24386C>T, XM_005260065.1:c.294-24386C>T, NM_001174080.1:c.294-24386C>T, NM_023035.2:c.294-24386C>T, 17707328, NG_011569.1:g.31863C>T, 111189427, NC_000019.10:g.13479598=, rs61314943, NM_001127221.1:c.294-24386C>T, NC_000019.9:g.13590412=, rs111189427, 2112460, NG_011569.1:g.31863=, rs2112460, XM_005260068.1:c.294-24386C>T, NC_000019.9:g.13590412G>A, XM_005260066.1:c.294-24386C>T, rs17707328, NM_000068.3:c.294-24386C>T, 61314943 +PA166154678 rs211247 PA30130 KL NC_000013.11:33008508 1 0 0 0 0 NC_000013.10:g.33582646=, 211247, NC_000013.11:g.33008508G>C, rs211247, NC_000013.11:g.33008508=, NC_000013.10:g.33582646G>C +PA166156784 rs2112865 PA134888452 SV2C NC_000005.10:76133778 1 0 0 0 0 NC_000005.10:g.76133778A>G, XM_005248470.1:c.580+1448A>G, NC_000005.10:g.76133778=, 2112865, 61088038, rs2112865, NC_000005.9:g.75429603A>G, NM_014979.3:c.580+1448A>G, XM_011543281.1:c.580+1448A>G, XM_011543282.1:c.8+1448A>G, rs61088038, NC_000005.9:g.75429603=, NM_001297716.1:c.580+1448A>G +PA166157574 rs2114358 PA164722363,PA34053 MIR1206,PVT1 NC_000008.11:128008933 3 0 0 0 0 rs13269734, NR_003367.3:n.1212+19642G>A, 2114358, NR_031611.1:n.36G>A, 61088727, NC_000008.11:g.128008933G>C, rs2114358, rs61088727, 13269734, NC_000008.10:g.129021179G>A, NC_000008.11:g.128008933=, NC_000008.10:g.129021179G>C, NC_000008.11:g.128008933G>A, NC_000008.10:g.129021179= +PA166153996 rs2115819 PA46 ALOX5 NC_000010.11:45405641 1 1 0 0 0 17444175, NG_011437.1:g.36461=, XM_011546981.1:c.432-6550A>G, 60572695, NG_011437.1:g.36461A>G, NM_000698.3:c.432-6550A>G, NC_000010.11:g.45405641A>T, rs60572695, NC_000010.10:g.45901089A>G, NG_011437.1:g.36461A>T, 52816243, XM_011539564.1:c.432-6550A>G, NC_000010.11:g.45405641=, XM_005276864.1:c.432-6550A>G, NM_001256154.1:c.432-6550A>G, NW_003315935.1:g.246472A>G, NC_000010.10:g.45901089=, NC_000010.10:g.45901089A>T, rs17444175, rs52816243, XM_005271810.1:c.432-6550A>G, NC_000010.11:g.45405641A>G, NM_001256153.1:c.432-6550A>G, rs2115819, 2115819 +PA166394421 rs2116683801 PA109 CFTR NC_000007.14:117540161 0 0 0 0 1 2116683801, NP_000483.3:p.Phe311Val, NG_016465.4:g.79378=, NG_016465.4:g.79378T>C, rs2116683801, NC_000007.13:g.117180215=, NC_000007.13:g.117180215T>C, NC_000007.14:g.117540161=, NG_016465.4:g.79378T>G, NC_000007.14:g.117540161T>G, NP_000483.3:p.Phe311Leu, NC_000007.14:g.117540161T>C, NP_000483.3:p.Phe311=, NC_000007.13:g.117180215T>G +PA166155029 rs2116971 PA26287 CDH13 NC_000016.10:82632534 1 0 0 0 0 NM_001220489.1:c.45+5397G>A, NC_000016.10:g.82632534=, NG_052819.1:g.10741G>A, NC_000016.9:g.82666139G>A, NC_000016.10:g.82632534G>A, rs17261091, rs2116971, 2116971, NM_001220490.1:c.-509+5397G>A, NG_052819.1:g.10741=, NM_001257.4:c.45+5397G>A, 17261091, NM_001220491.1:c.45+5397G>A, NM_001220492.1:c.45+5397G>A, NM_001220488.1:c.80+5397G>A, NC_000016.9:g.82666139=, XM_011522805.1:c.80+5397G>A +PA166256841 rs2117032 NC_000012.12:20921188 1 0 0 0 0 NC_000012.12:g.20921188C>T, NC_000012.12:g.20921188=, 59483944, NC_000012.11:g.21074122C>T, NC_000012.11:g.21074122C>G, rs2117032, NC_000012.11:g.21074122=, 2117032, NC_000012.12:g.20921188C>G, 11519257 +PA166157742 rs2120266 PA31818 NTRK2 NC_000009.12:84841436 1 1 0 0 0 XM_005252002.1:c.1397-19604G>A, XM_011518720.1:c.1397-25807G>A, NC_000009.11:g.87456351G>A, NC_000009.12:g.84841436G>A, XM_005252006.1:c.1397-19604G>A, NM_001018064.2:c.1397-25807G>A, NM_006180.4:c.1397-19604G>A, XM_011518718.1:c.1397-25807G>A, 58271572, XM_005252003.1:c.1397-19604G>A, XM_005252005.1:c.1397-25807G>A, XM_005252006.2:c.1397-19604G>A, NM_001018065.2:c.1397-19604G>A, XM_005252004.1:c.1397-19604G>A, NG_012201.2:g.177886G>A, XM_011518719.1:c.1397-25807G>A, rs58271572, rs2120266, XM_005252001.1:c.1397-19604G>A, NC_000009.12:g.84841436=, NM_001018066.2:c.1397-25807G>A, 2120266, NC_000009.11:g.87456351=, NG_012201.2:g.177886= +PA166161567 rs212082 PA244 ABCC1 NC_000016.10:16133290 1 0 0 0 0 NC_000016.10:g.16133290=, NG_028268.1:g.188714=, 212638, NG_028268.1:g.188714A>G, rs212082, NG_028268.2:g.188714=, NC_000016.10:g.16133290A>G, 212082, NC_000016.9:g.16227147=, 386557868, NG_028268.2:g.188714A>G, NC_000016.9:g.16227147A>G +PA166156343 rs2120825 PA281 PPARG NC_000003.12:12371840 1 0 0 0 0 NG_011749.1:g.88991T>G, XM_011533842.1:c.83-7864T>G, NC_000003.11:g.12413339T>G, NC_000003.12:g.12371840=, NM_015869.4:c.83-7864T>G, XM_011533840.1:c.-2-7864T>G, NM_138712.3:c.-2-7864T>G, NC_000003.12:g.12371840T>G, NM_005037.5:c.-2-7864T>G, NM_138711.3:c.-2-7864T>G, NC_000003.11:g.12413339=, NG_011749.1:g.88991=, rs2120825, XM_011533844.1:c.-2-7864T>G, 2120825, rs59885468, XM_011533841.1:c.-2-7864T>G, 59885468, XM_011533843.1:c.83-7864T>G +PA166161574 rs212090 PA244 ABCC1 NC_000016.10:16142147 4 0 0 0 0 NG_028268.2:g.197571T>A, NC_000016.10:g.16142147=, NC_000016.9:g.16236004=, NG_028268.2:g.197571=, 212090, NG_028268.1:g.197571T>A, 17217301, NC_000016.9:g.16236004T>A, 59660298, 3743529, 212646, rs212090, NC_000016.10:g.16142147T>A, NG_028268.1:g.197571= +PA166154987 rs212091 PA244 ABCC1 NC_000016.10:16142793 1 1 0 0 0 16967633, NM_004996.3:c.*1512T>C, XM_011522498.1:c.*1512T>C, XM_011522497.1:c.*1512T>C, NG_028268.2:g.198217T>A, NG_028268.2:g.198217T>C, rs212647, 212091, NC_000016.9:g.16236650T>C, 58366070, NC_000016.9:g.16236650T>A, NG_028268.2:g.198217=, 3186999, NC_000016.10:g.16142793T>A, rs3186999, NC_000016.10:g.16142793T>C, rs212091, NG_028268.1:g.198217T>A, NG_028268.1:g.198217T>C, 212647, rs58366070, XM_005255326.1:c.*1512T>C, XM_005255329.1:c.*1512T>C, XR_951923.1:n.-989T>C, XM_005255327.1:c.*1512T>C, XM_005255328.1:c.*1512T>C, XR_933134.1:n.-960T>C, NC_000016.10:g.16142793=, NC_000016.9:g.16236650=, NG_028268.1:g.198217=, rs16967633, NT_187607.1:g.1800685T>C +PA166181821 rs2125362 PA30725 ME3 NC_000011.10:86456094 1 0 0 0 0 NC_000011.10:g.86456094=, rs2125362, 2125362, NC_000011.9:g.86167136=, 57698600, NC_000011.10:g.86456094G>A, NC_000011.9:g.86167136G>A +PA166157018 rs2125739 PA24392 ABCC10 NC_000006.12:43445127 6 1 0 0 0 XM_011514985.1:c.890T>C, XM_011514982.1:c.1511T>C, XM_011514984.1:c.*370T>C, XM_011514983.1:c.1511T>C, XP_005249526.1:p.Ile297Thr, XM_005249469.1:c.890T>C, XP_011513277.1:p.Ile948Thr, XP_011513281.1:p.Ile948Thr, NM_033450.2:c.2759T>C, XM_005249468.1:c.2843T>C, XM_005249467.1:c.2843T>C, XP_011513282.1:p.Ile948Thr, XR_926334.1:n.2988T>C, NC_000006.11:g.43412865T>C, XP_005249523.1:p.Ile948Thr, NP_258261.2:p.Ile920Thr, NP_258261.2:p.Ile920=, XM_005249465.1:c.2843T>C, XM_005249466.1:c.2843T>C, NC_000006.12:g.43445127T>C, 2125739, NC_000006.11:g.43412865=, XP_011513276.1:p.Ile948Thr, XP_005249522.1:p.Ile948Thr, XM_011514978.1:c.2726T>C, XP_011513283.1:p.Ile948Thr, XP_011513284.1:p.Ile504Thr, 59156345, XP_005249524.1:p.Ile948Thr, XM_005249470.1:c.*370T>C, XP_011513287.1:p.Ile297Thr, NM_001198934.1:c.2843T>C, XP_011513280.1:p.Ile909Thr, XM_011514986.1:c.890T>C, XP_011513285.1:p.Ile504Thr, NC_000006.12:g.43445127=, XM_011514975.1:c.2843T>C, XM_011514979.1:c.2843T>C, XP_005249525.1:p.Ile948Thr, XP_011513279.1:p.Ile948Thr, NP_001185863.1:p.Ile948Thr, XM_011514976.1:c.2843T>C, XM_011514977.1:c.2843T>C, XM_011514980.1:c.2843T>C, XM_011514981.1:c.2843T>C, rs59156345, XP_011513278.1:p.Ile948Thr, rs2125739, XM_011514974.1:c.2843T>C, XP_011513288.1:p.Ile297Thr +PA166232211 rs2129575 PA128747823 TPH2 NC_000012.12:71946293 1 0 0 0 0 NC_000012.11:g.72340073=, NG_008279.1:g.12448=, NC_000012.12:g.71946293=, NC_000012.11:g.72340073G>C, 60390804, NC_000012.11:g.72340073G>T, NG_008279.1:g.12448G>T, NG_008279.1:g.12448G>C, rs2129575, NC_000012.12:g.71946293G>C, 2129575, NC_000012.12:g.71946293G>T +PA166156539 rs2132065 PA24933 AREG NC_000004.12:74459587 1 0 0 0 0 NC_000004.12:g.74459587A>T, 59208677, NC_000004.12:g.74459587A>C, rs59208677, NC_000004.12:g.74459587=, NC_000004.11:g.75325304A>T, NC_000004.11:g.75325304A>C, 2132065, rs2132065, NC_000004.11:g.75325304= +PA166200161 rs2133896 PA128394692 ANKS1B NC_000012.12:99455122 1 3 0 0 0 6538916, NG_029860.2:g.534533=, NG_029860.1:g.534533C>A, NG_029860.2:g.534533C>A, 57885481, rs2133896, NC_000012.12:g.99455122G>T, NC_000012.11:g.99848900=, NC_000012.11:g.99848900G>T, 2133896, NC_000012.12:g.99455122=, NG_029860.1:g.534533= +PA166156785 rs2134227 PA134888452 SV2C NC_000005.10:76104642 1 0 0 0 0 XM_011543281.1:c.-102+20329C>G, 60827107, NC_000005.10:g.76104642=, rs59248082, rs2134227, 2134227, NC_000005.9:g.75400467=, NC_000005.10:g.76104642C>G, NM_001297716.1:c.-102+21130C>G, rs60827107, 59248082, NM_014979.3:c.-102+21130C>G, NC_000005.9:g.75400467C>G, XM_005248470.1:c.-102+21130C>G +PA166153672 rs2134688 PA24994 ARNT NC_000001.11:150844410 2 0 0 0 0 NM_001197325.1:c.227+1853C>T, XM_005245156.1:c.224+1853C>T, NG_028248.1:g.37359C>T, XM_005245159.1:c.224+1853C>T, XM_005245154.1:c.200+1853C>T, NC_000001.11:g.150844410=, XM_005245153.1:c.227+1853C>T, NM_001286035.1:c.200+1853C>T, XM_011509546.1:c.131+1853C>T, XM_011509543.1:c.224+1853C>T, 58118781, XM_005245154.2:c.200+1853C>T, NM_001286036.1:c.227+1853C>T, NM_001668.3:c.227+1853C>T, NM_178427.2:c.227+1853C>T, rs2134688, 2134688, NC_000001.10:g.150816886=, rs58118781, XM_005245152.1:c.227+1853C>T, XM_005245158.1:c.227+1853C>T, NC_000001.11:g.150844410G>A, XM_011509547.1:c.224+1853C>T, XM_005245157.1:c.227+1853C>T, XM_011509542.1:c.224+1853C>T, XM_005245155.1:c.200+1853C>T, XM_011509545.1:c.224+1853C>T, NG_028248.1:g.37359=, NC_000001.10:g.150816886G>A, XM_005245151.1:c.227+1853C>T, XM_011509544.1:c.221+1853C>T +PA166156344 rs2139560 PA395 ABCC5 NC_000003.12:183936081 1 0 0 0 0 XM_005247059.1:c.3854+1820T>C, NC_000003.12:g.183936081A>T, NC_000003.11:g.183653869A>G, NC_000003.12:g.183936081A>G, NC_000003.11:g.183653869A>C, XM_005247061.1:c.3854+1820T>C, NC_000003.12:g.183936081A>C, XM_005247058.1:c.3854+1820T>C, 2139560, rs2139560, rs58052711, NC_000003.11:g.183653869=, NM_005688.3:c.3854+1820T>C, XM_011512315.1:c.3854+1820T>C, XM_005247060.1:c.3854+1820T>C, NG_047115.1:g.86930T>C, NG_047115.1:g.86930T>A, NG_047115.1:g.86930T>G, NC_000003.12:g.183936081=, XM_005247059.3:c.3854+1820T>C, 58052711, XM_005247058.3:c.3854+1820T>C, NG_047115.1:g.86930=, NC_000003.11:g.183653869A>T, NM_001320032.1:c.2438+1820T>C, XM_005247062.1:c.2438+1820T>C, XM_011512316.1:c.2438+1820T>C, XM_011512314.1:c.3854+1820T>C +PA166202981 rs213987 PA109 CFTR NC_000007.14:117621239 1 0 0 0 0 NC_000007.14:g.117621239=, NG_062446.1:g.1642=, NC_000007.13:g.117261293=, rs213987, 17140277, NC_000007.14:g.117621239C>T, 214171, NG_016465.4:g.160456C>T, NG_062446.1:g.1642C>T, 11567313, 10345190, NG_016465.4:g.160456=, 213987, 34413971, NC_000007.13:g.117261293C>T, 59903115 +PA166153673 rs2144297 PA28537 GALNT2 NC_000001.11:230128097 1 1 0 0 0 NC_000001.11:g.230128097T>A, NC_000001.10:g.230263844T>G, NC_000001.10:g.230263844T>C, NC_000001.11:g.230128097=, XM_011544155.1:c.-76+2604T>C, rs60071979, NC_000001.10:g.230263844=, XM_011544154.1:c.54+4655T>C, NG_011854.2:g.75309=, NC_000001.10:g.230263844T>A, NG_011854.2:g.75309T>G, rs2144297, NM_004481.4:c.127-50121T>C, 60071979, NC_000001.11:g.230128097T>G, 2144297, NG_011854.2:g.75309T>C, NM_001291866.1:c.13-50121T>C, NC_000001.11:g.230128097T>C, NG_011854.2:g.75309T>A +PA166153674 rs2144300 PA28537 GALNT2 NC_000001.11:230159169 1 1 0 0 0 NC_000001.10:g.230294916C>T, NC_000001.11:g.230159169=, rs58774917, rs12749006, NC_000001.11:g.230159169C>T, NM_004481.4:c.127-19049C>T, XM_011544154.1:c.55-19049C>T, NG_011854.2:g.106381=, NG_011854.2:g.106381C>T, 12749006, rs2144300, XM_011544155.1:c.-75-19049C>T, NM_001291866.1:c.13-19049C>T, 58774917, 2144300, NC_000001.10:g.230294916= +PA166162753 rs2145623 NC_000014.9:35370030 2 0 0 0 0 NC_000014.9:g.35370030G>C, NC_000014.8:g.35839236G>C, NC_000014.8:g.35839236=, NC_000014.9:g.35370030=, rs2145623, 2145623 +PA166157019 rs2146323 PA37302 VEGFA NC_000006.12:43777358 1 0 0 0 0 NM_001171630.1:c.119-111C>A, NM_001204384.1:c.119-111C>A, NM_001287044.1:c.35-111C>A, NM_001033756.2:c.659-111C>A, NM_003376.5:c.659-111C>A, NC_000006.12:g.43777358C>A, NM_001171627.1:c.119-111C>A, NM_001025366.2:c.659-111C>A, NM_001025370.2:c.659-111C>A, 2146323, rs2146323, NM_001317010.1:c.119-111C>A, NM_001171626.1:c.119-111C>A, NC_000006.11:g.43745095=, NM_001171629.1:c.119-111C>A, NM_001171622.1:c.659-111C>A, NG_008732.1:g.12143=, NC_000006.11:g.43745095C>A, NM_001025367.2:c.659-111C>A, NM_001204385.1:c.659-111C>A, NM_001171625.1:c.119-111C>A, NM_001171623.1:c.119-111C>A, NM_001171628.1:c.119-111C>A, XM_005249363.1:c.35-111C>A, NG_008732.1:g.12143C>A, NM_001025369.2:c.659-111C>A, NM_001025368.2:c.659-111C>A, NC_000006.12:g.43777358=, NM_001171624.1:c.119-111C>A +PA166161565 rs215095 PA244 ABCC1 NC_000016.10:15966537 1 0 0 0 0 NG_028268.1:g.21961G>C, NG_028268.2:g.21961=, 386558842, rs215095, 60461521, 215095, NG_028268.2:g.21961G>A, NC_000016.10:g.15966537G>A, NC_000016.9:g.16060394G>C, NG_028268.2:g.21961G>C, NC_000016.10:g.15966537G>C, NC_000016.9:g.16060394G>A, 59908999, NC_000016.9:g.16060394=, NG_028268.1:g.21961=, NC_000016.10:g.15966537=, NG_028268.1:g.21961G>A +PA166203361 rs2151222 PA134962294 IKBKE NC_000001.11:206480926 1 1 0 0 0 rs2151222, 2151222, 59604090, NC_000001.10:g.206654268A>T, NC_000001.11:g.206480926A>T, NC_000001.10:g.206654268=, NC_000001.10:g.206654268A>G, NC_000001.11:g.206480926=, NC_000001.11:g.206480926A>G +PA166182404 rs2153628 PA126 CYP2C9 NC_000010.11:94963667 1 0 0 0 0 NC_000010.10:g.96723424A>G, rs2153628, 2153628, NG_008385.1:g.30010=, 17480517, NG_008385.1:g.30010A>G, 4403742, 386558929, NG_008385.2:g.30510=, NC_000010.11:g.94963667A>G, NC_000010.10:g.96723424=, NG_008385.2:g.30510A>G, NC_000010.11:g.94963667= +PA166185779 rs2159140 PA30589 MAP2K4 NC_000017.11:12073183 1 1 0 0 0 2159140, rs2159140, NC_000017.11:g.12073183=, NG_033952.1:g.57366T>C, NC_000017.10:g.11976500=, NG_033952.1:g.57366=, NC_000017.10:g.11976500T>C, 57750902, NC_000017.11:g.12073183T>C +PA166154491 rs215976 PA83 CACNA1C NC_000012.12:2585472 2 0 0 0 0 NP_001123299.1:p.Asp812=, NM_001129833.1:c.2436C>T, NM_001129834.1:c.2436C>T, rs875566, NP_001161095.1:p.Asp812=, XP_005253822.1:p.Asp882=, NM_001129837.1:c.2436C>T, NM_001129836.1:c.2436C>T, NP_001161097.1:p.Asp812=, NM_001129835.1:c.2436C>T, rs215976, NM_001129838.1:c.2436C>T, NM_001129839.1:c.2436C>T, XM_005253765.1:c.2646C>T, NM_001129830.2:c.2436C>T, NM_199460.3:c.2436C>T, NP_955630.3:p.Asp812=, XM_005253786.1:c.2436C>T, NP_001161096.2:p.Asp812=, XP_005253833.1:p.Asp815=, XP_005253823.1:p.Asp815=, XP_005253845.1:p.Asp86=, XP_005253824.1:p.Asp815=, XP_005253834.1:p.Asp815=, XP_005253835.1:p.Asp815=, NC_000012.11:g.2694638C>T, NG_008801.2:g.619687=, XP_005253825.1:p.Asp815=, XP_005253826.1:p.Asp815=, XP_005253836.1:p.Asp815=, XP_005253837.1:p.Asp815=, XM_011521018.1:c.1041C>T, NM_001129830.1:c.2436C>T, XP_005253829.1:p.Asp815=, NM_001129841.1:c.2436C>T, NC_000012.11:g.2694638C>G, NM_001129842.1:c.2436C>T, NM_001129831.1:c.2436C>T, NM_001129832.1:c.2436C>T, XP_005253827.1:p.Asp815=, XP_005253828.1:p.Asp815=, XP_005253838.1:p.Asp815=, XP_005253839.1:p.Asp815=, XM_005253781.1:c.2445C>T, XM_005253780.1:c.2445C>T, NM_001129843.1:c.2436C>T, XM_011521022.1:c.2436C>T, NC_000012.12:g.2585472C>G, XP_005253843.1:p.Asp812=, NM_001129846.1:c.2436C>T, NM_001129827.1:c.2436C>T, NP_001123301.1:p.Asp812=, NP_001123303.1:p.Asp812=, NM_001129829.1:c.2436C>T, NC_000012.11:g.2694638=, XM_011521021.1:c.2436C>T, NP_001123302.1:p.Asp812=, 215976, XP_005253840.1:p.Asp815=, XP_006719080.1:p.Asp842=, 875566, NM_001167624.2:c.2436C>T, XM_011521020.1:c.2601C>T, XM_011521017.1:c.1596C>T, XP_011519322.1:p.Asp867=, XM_005253771.1:c.2445C>T, NP_001123302.2:p.Asp812=, XM_005253772.1:c.2445C>T, XM_005253773.1:c.2445C>T, XM_005253775.1:c.2445C>T, XM_005253774.1:c.2445C>T, NP_000710.5:p.Asp812=, NP_001123310.1:p.Asp812=, XM_005253777.1:c.2445C>T, XM_005253779.1:c.2445C>T, NP_001123311.1:p.Asp812=, XM_005253776.1:c.2445C>T, NP_001123313.1:p.Asp812=, NP_001123312.1:p.Asp812=, NP_001123314.1:p.Asp812=, XP_005253842.1:p.Asp815=, 58809374, XP_005253841.1:p.Asp815=, XM_005253778.1:c.2445C>T, NP_001123318.1:p.Asp812=, NP_001123305.1:p.Asp812=, NP_001123307.1:p.Asp812=, NP_001123315.1:p.Asp812=, NP_001123304.1:p.Asp812=, NP_001123308.1:p.Asp812=, XM_005253788.1:c.258C>T, rs58809374, XP_005253844.1:p.Asp815=, NP_001123306.1:p.Asp812=, XP_011519325.1:p.Asp837=, NC_000012.12:g.2585472C>T, NP_001123316.1:p.Asp809=, NP_001123309.1:p.Asp812=, XM_011521023.1:c.2511C>T, XM_005253770.1:c.2445C>T, XM_005253782.1:c.2445C>T, XP_011519320.1:p.Asp347=, XM_005253783.1:c.2445C>T, NM_001129840.1:c.2436C>T, XM_005253784.1:c.2445C>T, XM_005253785.1:c.2445C>T, NC_000012.12:g.2585472=, XM_006719017.1:c.2526C>T, NM_001167625.1:c.2436C>T, XM_005253766.1:c.2445C>T, XM_005253768.1:c.2445C>T, XM_005253787.1:c.2445C>T, NM_001129844.1:c.2427C>T, XM_005253769.1:c.2445C>T, NG_008801.2:g.619687C>T, XP_005253832.1:p.Asp815=, XP_011519323.1:p.Asp812=, XP_011519324.1:p.Asp812=, NM_001167623.1:c.2436C>T, XP_005253830.1:p.Asp815=, XP_005253831.1:p.Asp815=, XP_011519319.1:p.Asp532=, XM_005253767.1:c.2445C>T, NG_008801.2:g.619687C>G, NM_000719.6:c.2436C>T, NP_000710.5:p.Asp812Glu +PA166163615 rs215994 PA83 CACNA1C NC_000012.12:2607994 1 0 0 0 0 16929740, NC_000012.12:g.2607994=, NC_000012.11:g.2717160=, 215994, 11565222, NG_008801.2:g.642209T>C, NC_000012.12:g.2607994T>C, NC_000012.11:g.2717160T>C, NG_008801.2:g.642209=, rs215994 +PA166154492 rs216008 PA83 CACNA1C NC_000012.12:2611971 1 0 0 0 0 NC_000012.11:g.2721137=, NM_001129844.1:c.3777C>T, XM_005253769.1:c.3795C>T, XP_005253841.1:p.Phe1265=, XM_005253767.1:c.3795C>T, XM_005253773.1:c.3855C>T, NC_000012.11:g.2721137C>T, NP_001123316.1:p.Phe1259=, NP_001123308.1:p.Phe1262=, XP_005253826.1:p.Phe1265=, NM_000719.6:c.3786C>T, rs57502719, 216008, NM_001129840.1:c.3786C>T, NP_001123302.2:p.Phe1262=, XP_005253843.1:p.Phe1262=, NM_001129841.1:c.3786C>T, XM_005253770.1:c.3795C>T, 57502719, NM_001129842.1:c.3786C>T, NP_001123311.1:p.Phe1262=, XM_005253771.1:c.3795C>T, NM_001129843.1:c.3786C>T, NP_001123312.1:p.Phe1262=, XM_005253774.1:c.3795C>T, XM_005253772.1:c.3795C>T, XM_005253776.1:c.3795C>T, NP_001123315.1:p.Phe1262=, NP_001161095.1:p.Phe1262=, NM_001129846.1:c.3786C>T, XM_005253775.1:c.3795C>T, XM_005253788.1:c.1608C>T, XP_005253829.1:p.Phe1265=, XM_011521020.1:c.3951C>T, XM_005253777.1:c.3795C>T, XM_005253779.1:c.3795C>T, 61260362, NM_001129830.2:c.3786C>T, XM_005253778.1:c.3795C>T, XM_011521023.1:c.3861C>T, rs216008, XP_005253822.1:p.Phe1332=, XP_005253827.1:p.Phe1265=, NM_001129827.1:c.3846C>T, XP_005253837.1:p.Phe1265=, NG_008801.2:g.646186=, NM_001167624.2:c.3786C>T, XP_005253831.1:p.Phe1265=, XP_011519321.1:p.Phe167=, rs1051365, XP_011519323.1:p.Phe1262=, NC_000012.12:g.2611971C>T, XP_005253839.1:p.Phe1265=, XP_005253830.1:p.Phe1285=, NC_000012.12:g.2611971=, XP_005253833.1:p.Phe1265=, XP_005253835.1:p.Phe1265=, NP_001123299.1:p.Phe1282=, XP_011519325.1:p.Phe1287=, NM_001129832.1:c.3846C>T, NP_000710.5:p.Phe1262=, XP_005253828.1:p.Phe1265=, XM_005253786.1:c.3786C>T, NP_001123304.1:p.Phe1282=, NM_001167625.1:c.3786C>T, XM_011521017.1:c.2946C>T, NM_001129829.1:c.3786C>T, NP_001123306.1:p.Phe1262=, NM_199460.3:c.3846C>T, XP_005253824.1:p.Phe1265=, rs61260362, NP_955630.3:p.Phe1282=, NP_001123318.1:p.Phe1262=, XM_011521018.1:c.2391C>T, NM_001129830.1:c.3786C>T, NP_001123314.1:p.Phe1262=, NM_001129833.1:c.3786C>T, XM_005253780.1:c.3795C>T, NP_001123313.1:p.Phe1262=, XM_011521022.1:c.3786C>T, rs3191752, NM_001129831.1:c.3786C>T, NP_001161096.2:p.Phe1262=, XM_005253782.1:c.3795C>T, 1051365, XP_006719080.1:p.Phe1292=, XM_005253781.1:c.3795C>T, XM_011521021.1:c.3786C>T, NM_001129837.1:c.3786C>T, NP_001123302.1:p.Phe1262=, XM_005253784.1:c.3795C>T, NP_001123301.1:p.Phe1262=, NM_001129834.1:c.3786C>T, NM_001129838.1:c.3786C>T, NM_001167623.1:c.3786C>T, XM_005253783.1:c.3795C>T, XM_005253787.1:c.3795C>T, NP_001161097.1:p.Phe1262=, NM_001129835.1:c.3786C>T, XP_005253845.1:p.Phe536=, NM_001129836.1:c.3786C>T, XM_005253785.1:c.3795C>T, XM_005253765.1:c.3996C>T, XP_005253844.1:p.Phe1265=, XP_005253842.1:p.Phe1265=, XP_005253840.1:p.Phe1265=, XP_005253823.1:p.Phe1285=, NM_001129839.1:c.3786C>T, NP_001123303.1:p.Phe1262=, NG_008801.2:g.646186C>T, NP_001123305.1:p.Phe1262=, NP_001123310.1:p.Phe1262=, XP_011519320.1:p.Phe797=, XM_005253766.1:c.3855C>T, NP_001123307.1:p.Phe1262=, XP_011519322.1:p.Phe1317=, XP_005253825.1:p.Phe1285=, NP_001123309.1:p.Phe1262=, XP_005253836.1:p.Phe1265=, XP_005253838.1:p.Phe1265=, XM_005253768.1:c.3855C>T, XP_011519324.1:p.Phe1262=, XP_005253832.1:p.Phe1265=, XM_011521019.1:c.501C>T, 3191752, XP_011519319.1:p.Phe982=, XM_006719017.1:c.3876C>T, XP_005253834.1:p.Phe1265= +PA166154493 rs216013 PA83 CACNA1C NC_000012.12:2620466 1 0 0 0 0 XM_005253769.1:c.3837+8453A>G, XM_011521023.1:c.3903+8453A>G, NM_001129846.1:c.3828+8453A>G, 216013, NM_001129829.1:c.3828+8453A>G, NM_001129838.1:c.3828+8453A>G, XM_005253778.1:c.3837+8453A>G, XM_005253785.1:c.3837+8453A>G, XM_011521022.1:c.3828+8453A>G, XM_005253788.1:c.1650+8453A>G, XM_005253787.1:c.3837+8453A>G, XM_005253784.1:c.3837+8453A>G, XM_005253786.1:c.3828+8453A>G, XM_005253779.1:c.3837+8453A>G, NM_001129830.2:c.3828+8453A>G, NM_001129839.1:c.3828+8453A>G, XM_005253775.1:c.3837+8453A>G, NM_001129835.1:c.3828+8453A>G, XM_005253770.1:c.3837+8453A>G, NC_000012.12:g.2620466=, NM_199460.3:c.3888+8453A>G, XM_005253766.1:c.3897+8453A>G, XM_005253783.1:c.3837+8453A>G, NM_001129827.1:c.3888+8453A>G, NM_001167625.1:c.3828+8453A>G, NM_001129834.1:c.3828+8453A>G, NC_000012.11:g.2729632=, XM_005253776.1:c.3837+8453A>G, 59232965, NC_000012.11:g.2729632A>G, XM_005253768.1:c.3897+8453A>G, XM_006719017.1:c.3918+8453A>G, NM_001129842.1:c.3828+8453A>G, NM_001129832.1:c.3888+8453A>G, NM_001129837.1:c.3828+8453A>G, XM_011521017.1:c.2988+8453A>G, XM_005253781.1:c.3837+8453A>G, NC_000012.12:g.2620466A>G, NM_001129841.1:c.3828+8453A>G, XM_005253780.1:c.3837+8453A>G, XM_005253772.1:c.3837+8453A>G, rs216013, NM_001167623.1:c.3828+8453A>G, XM_011521018.1:c.2433+8453A>G, XM_005253773.1:c.3897+8453A>G, XM_005253771.1:c.3837+8453A>G, XM_005253765.1:c.4038+8453A>G, NM_001129840.1:c.3828+8453A>G, XM_011521019.1:c.543+8453A>G, NM_001129831.1:c.3828+8453A>G, rs59232965, NG_008801.2:g.654681=, NM_001129830.1:c.3828+8453A>G, NM_001129843.1:c.3828+8453A>G, NM_000719.6:c.3828+8453A>G, XM_005253767.1:c.3837+8453A>G, NM_001167624.2:c.3828+8453A>G, XM_011521020.1:c.3993+8453A>G, NG_008801.2:g.654681A>G, XM_005253774.1:c.3837+8453A>G, NM_001129836.1:c.3828+8453A>G, NM_001129844.1:c.3819+8453A>G, XM_005253782.1:c.3837+8453A>G, NM_001129833.1:c.3828+8453A>G, XM_005253777.1:c.3837+8453A>G, XM_011521021.1:c.3828+8453A>G +PA166179891 rs2160652 PA36302 TACR1 NC_000002.12:75107645 2 0 0 0 0 NC_000002.11:g.75334771T>G, 3771814, NC_000002.12:g.75107645T>C, NG_029522.1:g.96875=, 56848225, NC_000002.12:g.75107645T>G, NC_000002.11:g.75334771=, NC_000002.11:g.75334771T>C, NG_029522.1:g.96875A>C, NG_029522.1:g.96875A>G, NC_000002.12:g.75107645=, rs2160652, 2160652, 17564615 +PA166154528 rs2160733 PA28980 GRIN2B NC_000012.12:13828793 1 0 0 0 0 NM_000834.3:c.411+37005T>G, XM_011520628.1:c.411+37005T>G, NC_000012.12:g.13828793=, rs17375334, NG_031854.1:g.156296T>G, NC_000012.11:g.13981727A>C, NG_031854.2:g.158220T>G, XM_011520630.1:c.411+37005T>G, NG_031854.2:g.158220=, XM_011520629.1:c.411+37005T>G, NC_000012.11:g.13981727=, rs2160733, NC_000012.12:g.13828793A>C, 2160733, 17375334 +PA166154529 rs2160734 PA28980 GRIN2B NC_000012.12:13831415 1 0 0 0 0 NC_000012.11:g.13984349C>G, NC_000012.12:g.13831415=, XM_011520629.1:c.411+34383G>A, XM_011520628.1:c.411+34383G>A, NG_031854.2:g.155598G>A, XR_931370.1:n.-1920C>T, 52790012, NG_031854.2:g.155598G>C, NC_000012.12:g.13831415C>T, NG_031854.1:g.153674G>A, NC_000012.11:g.13984349=, rs57118859, NG_031854.2:g.155598=, NM_000834.3:c.411+34383G>A, 57118859, rs2160734, NC_000012.11:g.13984349C>T, XM_011520630.1:c.411+34383G>A, 2160734, rs52790012, NC_000012.12:g.13831415C>G +PA166178583 rs2162145 PA38444 CPA6 NC_000008.11:67747912 1 1 0 0 0 59538394, 386559248, NC_000008.10:g.68660147=, NG_027682.1:g.3474=, NG_027682.1:g.3474A>G, NC_000008.10:g.68660147T>C, NG_027682.1:g.3474A>C, NC_000008.10:g.68660147T>A, NC_000008.11:g.67747912=, rs2162145, 56435558, NC_000008.11:g.67747912T>A, 2162145, NC_000008.11:g.67747912T>C, NC_000008.11:g.67747912T>G, NC_000008.10:g.68660147T>G, NG_027682.1:g.3474A>T +PA166184314 rs2164660 PA33130 PDE4D NC_000005.10:59715681 1 1 0 0 0 NC_000005.10:g.59715681=, NG_027957.1:g.777419=, 57086966, rs2164660, 2164660, NC_000005.9:g.59011507=, NG_027957.2:g.813649=, NC_000005.9:g.59011507G>A, NG_027957.1:g.777419C>T, NG_027957.2:g.813649C>T, NC_000005.10:g.59715681G>A +PA166153675 rs2165870 PA112 CHRM3 NC_000001.11:239622120 3 0 0 0 0 rs4414031, 4414031, NC_000001.10:g.239785420A>C, 17233526, XR_949318.1:n.332+9251T>C, NC_000001.10:g.239785420=, XM_011544045.1:c.-541-10104A>G, XM_005273032.2:c.-312-10104A>G, NC_000001.11:g.239622120A>C, NG_032046.2:g.240191A>C, XM_011544041.1:c.-312-10104A>G, NC_000001.11:g.239622120A>G, NC_000001.11:g.239622120=, XM_005273032.1:c.-312-10104A>G, 56985376, NC_000001.10:g.239785420A>G, XM_011544046.1:c.-249-56066A>G, NG_032046.2:g.240191A>G, XM_011544042.1:c.-801-10104A>G, XM_011544043.1:c.-645-10104A>G, NG_032046.2:g.240191=, rs56985376, XM_011544044.1:c.-416-10104A>G, XR_949316.1:n.332+9251T>C, XR_949317.1:n.332+9251T>C, rs2165870, rs17233526, 2165870, XM_005273031.1:c.-312-10104A>G, XM_005273033.1:c.-249-56066A>G, XM_011544047.1:c.-185-10104A>G +PA166155667 rs2166219 NC_000002.12:19417541 1 0 0 0 0 NC_000002.11:g.19617302T>C, rs16986416, rs58751495, NC_000002.12:g.19417541T>C, NC_000002.11:g.19617302=, rs13008844, NC_000002.12:g.19417541=, 58751495, XR_939779.1:n.496-18349A>G, 16986416, 2166219, 13008844, rs2166219 +PA166157327 rs2167270 PA228 LEP NC_000007.14:128241296 1 0 0 0 0 rs2167270, NM_000230.2:c.-39G>A, XM_005250340.3:c.-39G>A, NG_007450.1:g.5019G>A, rs56514852, NG_044977.1:g.3041=, 17533430, NC_000007.14:g.128241296G>A, 36219625, NG_044977.1:g.3041G>A, 2167270, 56514852, NC_000007.13:g.127881349=, XM_005250340.1:c.-39G>A, rs17533430, NC_000007.14:g.128241296=, rs36219625, NG_007450.1:g.5019=, NC_000007.13:g.127881349G>A +PA166156540 rs2168047 PA142670729 TMPRSS11E NC_000004.12:68483341 1 0 0 0 0 rs4380581, 4380581, NC_000004.12:g.68483341=, NM_014058.3:c.1110+4350T>C, 56038817, XM_011531896.1:c.876+4350T>C, 112504913, NC_000004.11:g.69349059=, NC_000004.11:g.69349059T>A, NC_000004.12:g.68483341T>G, rs112735615, XM_011546331.1:c.876+4336T>C, rs2168047, rs56038817, 2168047, NC_000004.11:g.69349059T>G, NT_167250.2:g.177019T>C, NC_000004.12:g.68483341T>A, NC_000004.12:g.68483341T>C, rs112504913, NC_000004.11:g.69349059T>C, NT_167250.1:g.178969T>C, 112735615 +PA166156786 rs2168631 PA147 DRD1 NC_000005.10:175448999 1 1 0 0 0 rs59556958, NC_000005.10:g.175448999=, NG_011802.1:g.162C>A, NC_000005.9:g.174876002G>T, NC_000005.9:g.174876002=, NC_000005.10:g.175448999G>T, NG_011802.1:g.162C>T, rs2168631, 2168631, 59556958, NC_000005.9:g.174876002G>A, NG_011802.1:g.162=, NC_000005.10:g.175448999G>A +PA166232212 rs2171363 PA128747823 TPH2 NC_000012.12:71966484 1 0 0 0 0 12810807, NC_000012.11:g.72360264=, NG_008279.1:g.32639A>G, 60387427, NC_000012.11:g.72360264A>G, 2171363, rs2171363, NC_000012.11:g.72360264A>C, NG_008279.1:g.32639A>C, NC_000012.12:g.71966484A>T, NG_008279.1:g.32639=, NC_000012.12:g.71966484=, 56521535, NC_000012.11:g.72360264A>T, NC_000012.12:g.71966484A>G, 386559606, NC_000012.12:g.71966484A>C, NG_008279.1:g.32639A>T +PA166177329 rs2173117 PA28587 GATA4 NC_000008.11:11747621 1 0 0 0 0 NC_000008.10:g.11605130C>G, NG_008177.2:g.75703C>G, 60529411, NG_008177.2:g.75703C>A, NC_000008.11:g.11747621=, 2173117, 386559681, NG_008177.2:g.75703=, rs2173117, NC_000008.11:g.11747621C>G, NC_000008.11:g.11747621C>A, NC_000008.10:g.11605130=, NC_000008.10:g.11605130C>A +PA166153997 rs2177369 PA26448 CHAT NC_000010.11:49635683 2 0 0 0 0 rs2177369, NC_000010.10:g.50843729G>C, 2177369, NM_020549.4:c.1111+7898G>A, NC_000010.11:g.49635683G>C, NC_000010.10:g.50843729G>A, NC_000010.11:g.49635683G>A, NM_020985.3:c.757+7898G>A, NC_000010.10:g.50843729=, NM_001142933.1:c.865+7898G>A, NG_011797.1:g.31589G>C, NG_011797.1:g.31589G>A, NM_020986.3:c.757+7898G>A, NM_001142934.1:c.757+7898G>A, NC_000010.11:g.49635683=, rs58567404, NM_001142929.1:c.757+7898G>A, 58567404, NM_020984.3:c.757+7898G>A, NG_011797.1:g.31589= +PA166153998 rs2177370 PA26448 CHAT NC_000010.11:49630828 1 3 0 0 0 NM_001142933.1:c.865+3043A>G, NG_011797.1:g.26734=, NM_020985.3:c.757+3043A>G, NM_001142929.1:c.757+3043A>G, 57851564, NM_020986.3:c.757+3043A>G, NM_001142934.1:c.757+3043A>G, NC_000010.10:g.50838874=, NC_000010.11:g.49630828A>G, NM_020549.4:c.1111+3043A>G, 2177370, NC_000010.10:g.50838874A>G, rs2177370, rs57851564, NM_020984.3:c.757+3043A>G, NG_011797.1:g.26734A>G, NC_000010.11:g.49630828= +PA166155668 rs2177735 PA25094 ATIC NC_000002.12:215343152 1 0 0 0 0 NC_000002.12:g.215343152G>A, NG_013002.1:g.36197G>C, NC_000002.11:g.216207875G>T, rs4499424, 4499424, NG_013002.1:g.36197G>A, rs2177735, 2177735, NC_000002.12:g.215343152G>C, NG_013002.1:g.36197G>T, NM_004044.6:c.1228-1627G>A, NG_013002.1:g.36197=, NC_000002.12:g.215343152=, NC_000002.11:g.216207875G>C, NC_000002.11:g.216207875G>A, NC_000002.12:g.215343152G>T, NC_000002.11:g.216207875= +PA166170373 rs2179652 PA34372 RGS2 NC_000001.11:192800696 1 0 0 0 0 NC_000001.11:g.192800696C>T, NC_000001.11:g.192800696=, 2179652, 17647083, rs2179652, 61026482, NG_022822.1:g.225=, NG_022822.1:g.225C>T, NC_000001.10:g.192769826=, NC_000001.10:g.192769826C>T +PA166157020 rs2180314 PA29017 GSTA2 NC_000006.12:52752933 1 0 0 0 0 NC_000006.11:g.52617731C>G, NC_000006.11:g.52617731=, XM_011514532.1:c.335G>C, NM_000846.4:c.335G>C, NC_000006.12:g.52752933=, rs52806894, 57248371, rs3178048, 17605670, 3178048, NC_000006.12:g.52752933C>G, rs57248371, NP_000837.3:p.Ser112=, 17849682, 52806894, rs17849682, XP_011512834.1:p.Ser112Thr, NP_000837.3:p.Ser112Thr, NG_029430.1:g.15631G>C, NG_029430.1:g.15631=, rs17605670, rs2180314, 2180314 +PA166157021 rs2185631 PA24392 ABCC10 NC_000006.12:43440267 2 0 0 0 0 NC_000006.12:g.43440267A>G, XM_011514980.1:c.2127+1472A>G, XM_011514983.1:c.795+1472A>G, rs74294940, XM_005249470.1:c.2127+1472A>G, 17287928, NC_000006.11:g.43408005A>T, XM_011514978.1:c.2010+1472A>G, XM_005249467.1:c.2127+1472A>G, XM_011514976.1:c.2127+1472A>G, NC_000006.11:g.43408005=, XM_011514984.1:c.2127+1472A>G, NC_000006.12:g.43440267=, XM_011514986.1:c.174+1472A>G, XR_926335.1:n.2279+1472A>G, XM_005249465.1:c.2127+1472A>G, rs2185631, rs60279937, XM_005249468.1:c.2127+1472A>G, XM_011514975.1:c.2127+1472A>G, NC_000006.12:g.43440267A>T, NC_000006.11:g.43408005A>G, rs17287928, 74294940, NM_001198934.1:c.2127+1472A>G, 2185631, 60279937, XM_011514979.1:c.2127+1472A>G, NM_033450.2:c.2043+1472A>G, XM_011514985.1:c.174+1472A>G, XM_011514974.1:c.2127+1472A>G, XR_926334.1:n.2272+1472A>G, XM_005249469.1:c.174+1472A>G, XM_011514982.1:c.795+1472A>G, XM_011514977.1:c.2127+1472A>G, XM_005249466.1:c.2127+1472A>G, XM_011514981.1:c.2127+1472A>G +PA166155384 rs2189784 PA27121 CYP4F2 NC_000019.10:15848390 6 1 0 0 0 NC_000019.10:g.15848390G>C, NC_000019.10:g.15848390G>T, NC_000019.9:g.15959200G>C, NC_000019.10:g.15848390G>A, NC_000019.9:g.15959200G>A, NC_000019.9:g.15959200=, rs2189784, 2189784, 60426306, NC_000019.9:g.15959200G>T, rs60426306, NC_000019.10:g.15848390= +PA166157328 rs2189814 PA28992 GRM3 NC_000007.14:86702440 1 1 0 0 0 rs17675632, XM_011516089.1:c.-141+57568T>C, XM_005250289.1:c.100+57568T>C, XM_005250287.1:c.84+57568T>C, NC_000007.13:g.86331756=, NM_000840.2:c.-141+57568T>C, NC_000007.13:g.86331756T>G, NC_000007.13:g.86331756T>A, NC_000007.13:g.86331756T>C, XM_011516090.1:c.-141+57568T>C, 17675632, XM_011516088.1:c.-141+57568T>C, NC_000007.14:g.86702440T>G, NC_000007.14:g.86702440=, NC_000007.14:g.86702440T>A, NC_000007.14:g.86702440T>C, rs2189814, 2189814 +PA166160115 rs2191318 PA38657 GLCCI1 NC_000007.14:8072384 1 0 0 0 0 59408105, NC_000007.13:g.8112014C>T, NG_032073.1:g.108641C>G, 10338238, NC_000007.14:g.8072384=, 2191318, rs2191318, NG_032073.1:g.108641=, NC_000007.14:g.8072384C>G, NC_000007.13:g.8112014C>G, NG_032073.1:g.108641C>T, NC_000007.13:g.8112014=, 17401580, NC_000007.14:g.8072384C>T +PA166155669 rs2193225 PA31786 NRXN1 NC_000002.12:50852344 2 0 0 0 0 NC_000002.11:g.51079482T>C, XM_011533169.1:c.820+70314A>G, XM_005264642.2:c.832+69525A>G, XM_005264643.1:c.832+69525A>G, NG_011878.1:g.185193A>C, XM_011533173.1:c.802+70314A>G, NM_004801.4:c.832+69525A>G, NC_000002.11:g.51079482T>G, NG_011878.1:g.185193A>G, XM_011533167.1:c.832+69525A>G, XM_011533179.1:c.832+69525A>G, XM_011533176.1:c.772+175158A>G, XM_011533168.1:c.829+69525A>G, XM_011533171.1:c.832+69525A>G, XM_005264643.2:c.832+69525A>G, rs57195606, NG_011878.1:g.185193=, XM_011533174.1:c.832+69525A>G, XM_011533170.1:c.814+69525A>G, 57195606, XM_006712141.2:c.832+69525A>G, XM_011533177.1:c.832+69525A>G, XM_011533178.1:c.814+69525A>G, 386560444, XM_011533175.1:c.820+70314A>G, XM_006712137.2:c.832+69525A>G, XM_011533180.1:c.832+69525A>G, NC_000002.11:g.51079482=, rs2193225, 2193225, NC_000002.12:g.50852344=, NC_000002.12:g.50852344T>G, NM_001135659.1:c.931+69525A>G, XM_005264642.1:c.832+69525A>G, NC_000002.12:g.50852344T>C, XM_006712140.2:c.832+69525A>G, XM_011533172.1:c.832+69525A>G, rs386560444 +PA166154879 rs2198843 NC_000015.10:74708889 1 0 0 0 0 NC_000015.10:g.74708889=, NC_000015.9:g.75001230C>G, NC_000015.10:g.74708889C>T, NC_000015.10:g.74708889C>G, rs2198843, 2198843, NC_000015.9:g.75001230=, NC_000015.9:g.75001230C>T +PA166343601 rs2199936 PA390 ABCG2 NC_000004.12:88124179 1 1 0 0 0 NG_032067.2:g.112144T>C, NC_000004.12:g.88124179A>G, 17495745, NG_032067.2:g.112144T>A, 75544042, NC_000004.11:g.89045331=, 59721170, 112142096, 2199936, rs2199936, NC_000004.11:g.89045331A>G, 3116438, NG_032067.2:g.112144=, NC_000004.11:g.89045331A>T, NC_000004.12:g.88124179=, 112026652, NC_000004.12:g.88124179A>T +PA166156541 rs2200733 NC_000004.12:110789013 1 0 0 0 0 rs61314916, 61314916, NC_000004.11:g.111710169C>G, rs2200733, 2200733, NC_000004.11:g.111710169C>T, NC_000004.12:g.110789013C>T, NC_000004.12:g.110789013=, NC_000004.11:g.111710169=, NC_000004.12:g.110789013C>G +PA166196169 rs2201169 PA28491 GABRA3 NC_000023.11:152321843 1 0 0 0 0 2201169, rs2201169, NC_000023.10:g.151490315A>G, NC_000023.11:g.152321843A>G, NG_007102.2:g.134516T>C, NC_000023.11:g.152321843=, NC_000023.10:g.151490315=, NG_007102.2:g.134516= +PA166179805 rs2205986 PA134887689 SYT14 NC_000001.11:209942767 1 1 0 0 0 NC_000001.11:g.209942767G>A, NG_031962.1:g.9594G>A, NC_000001.11:g.209942767G>T, 2205986, rs2205986, NG_031962.1:g.9594G>T, NC_000001.10:g.210116112G>T, NC_000001.10:g.210116112=, NC_000001.11:g.209942767=, NC_000001.10:g.210116112G>A, NG_031962.1:g.9594= +PA166157022 rs2207396 PA156 ESR1 NC_000006.12:152061247 1 1 0 0 0 XR_943116.1:n.7257C>T, 17847072, XM_011535548.1:c.850+123G>A, XM_011535546.1:c.1369+123G>A, XM_006715375.2:c.850+123G>A, 57792040, NC_000006.11:g.152382382=, NM_000125.3:c.1369+123G>A, NM_001122741.1:c.1369+123G>A, NM_001291241.1:c.1366+123G>A, NC_000006.12:g.152061247=, rs17847072, rs2207396, XM_011535545.1:c.1369+123G>A, 2207396, NG_008493.2:g.409557=, NC_000006.12:g.152061247G>A, rs57792040, NM_001122742.1:c.1369+123G>A, XM_011535549.1:c.640+123G>A, NM_001122740.1:c.1369+123G>A, NG_008493.1:g.375752G>A, XM_005266856.1:c.1375+123G>A, XM_005266857.1:c.1366+123G>A, XM_011535543.1:c.1369+123G>A, NG_008493.2:g.409557G>A, XM_011535544.1:c.1369+123G>A, XM_011535547.1:c.1369+123G>A, NM_001291230.1:c.1375+123G>A, NC_000006.11:g.152382382G>A, XM_006715374.2:c.1369+123G>A +PA166155920 rs2207418 NC_000020.11:11194255 2 0 0 0 0 rs13042882, 56478919, NC_000020.10:g.11174903G>A, rs59661326, rs17189374, NC_000020.11:g.11194255=, rs56478919, 13042882, 17189374, rs2207418, 2207418, 59661326, NC_000020.11:g.11194255G>A, NC_000020.10:g.11174903= +PA166157249 rs221253 PA34022 PTPRN2 NC_000007.14:157539478 1 0 0 0 0 XM_005249553.1:c.*1236A>G, rs1639770, 1639770, NG_029966.1:g.1053311=, NC_000007.14:g.157539478=, NM_001308268.1:c.*1236A>G, NM_001308267.1:c.*1236A>G, NG_029966.1:g.1053311A>T, rs3735206, NG_029966.1:g.1053311A>G, 221253, NM_002847.4:c.*1236A>G, NC_000007.13:g.157332172=, NG_029966.1:g.1053311A>C, rs221253, NC_000007.14:g.157539478T>C, XM_011516445.1:c.*1236A>G, NM_130842.3:c.*1236A>G, 117742956, NC_000007.14:g.157539478T>A, 59330973, NC_000007.13:g.157332172T>A, rs59330973, NC_000007.13:g.157332172T>C, 3735206, rs117742956, NC_000007.13:g.157332172T>G, NC_000007.14:g.157539478T>G, NM_130843.3:c.*1236A>G +PA166153676 rs2213712 NC_000001.11:172630738 1 0 0 0 0 rs2213712, rs60221615, 2213712, NC_000001.11:g.172630738G>C, NC_000001.10:g.172599878G>C, 60221615, NC_000001.11:g.172630738=, NC_000001.10:g.172599878= +PA166156787 rs2216711 PA28644 GDNF NC_000005.10:37828742 1 1 0 0 0 NM_001190469.1:c.124+5982C>T, NG_011675.2:g.15939C>G, NC_000005.10:g.37828742G>A, rs58535256, NM_001190468.1:c.202+5904C>T, XM_011514030.1:c.-6+10765C>T, rs2216711, 2216711, NC_000005.10:g.37828742G>C, NG_011675.2:g.15939=, NG_011675.2:g.15939C>T, NC_000005.10:g.37828742G>T, XM_011514028.1:c.151+5904C>T, NM_000514.3:c.151+5904C>T, NC_000005.10:g.37828742=, XM_011514029.1:c.151+5904C>T, NM_001278098.1:c.-85-4653C>T, 58535256, 386561218, NC_000005.9:g.37828844G>T, NC_000005.9:g.37828844G>C, NC_000005.9:g.37828844G>A, rs386561218, NG_011675.2:g.15939C>A, NC_000005.9:g.37828844=, NM_199231.2:c.73+5982C>T +PA166183955 rs2217732 PA26492 CHRNA6 NC_000008.11:42763303 1 0 0 0 0 NC_000008.11:g.42763303=, NC_000008.11:g.42763303A>G, NC_000008.10:g.42618446A>G, NC_000008.11:g.42763303A>T, NC_000008.10:g.42618446A>T, 2217732, rs2217732, NC_000008.10:g.42618446= +PA166155670 rs2218603 NC_000002.12:166616233 1 0 0 0 0 59768498, NC_000002.11:g.167472743A>T, 2218603, rs2218603, NC_000002.12:g.166616233A>T, NC_000002.12:g.166616233A>G, NC_000002.12:g.166616233=, rs59768498, NC_000002.11:g.167472743A>G, NC_000002.11:g.167472743= +PA166154766 rs221903 NC_000014.9:71133491 1 0 0 0 0 rs221903, 221903, NC_000014.8:g.71600208=, NC_000014.9:g.71133491T>C, 56484460, rs60865465, rs56484460, NC_000014.9:g.71133491=, 60865465, NC_000014.8:g.71600208T>C +PA166157866 rs2227291 PA72 ATP7A NC_000023.11:78013005 1 1 0 0 0 rs2227291, 2227291, NR_104109.1:n.322-18395G>C, XM_005262150.1:c.2299G>C, XM_005277809.1:c.2299G>C, XM_005277810.1:c.2215G>C, XP_005277867.1:p.Val739Leu, XP_005262205.1:p.Val739Leu, NC_000023.11:g.78013005G>C, rs60987629, XP_005277868.1:p.Val767Leu, 16978770, XM_005277812.1:c.2299G>C, XP_005262206.1:p.Val767Leu, rs55864810, NG_013224.2:g.107309=, XP_005262204.1:p.Val767Leu, XM_005277811.1:c.2299G>C, rs16978770, NG_013224.2:g.107309G>C, NC_000023.10:g.77268502G>C, XP_005277866.1:p.Val767Leu, 60987629, XP_005262207.1:p.Val767Leu, NP_000043.4:p.Val767=, NM_001282224.1:c.2172+1331G>C, XM_005262148.1:c.2215G>C, rs61263114, 55864810, XM_005262149.1:c.2299G>C, XP_005277869.1:p.Val767Leu, NC_000023.11:g.78013005=, NC_000023.10:g.77268502=, 61263114, NM_000052.6:c.2299G>C, XM_005262147.1:c.2299G>C, NW_003871101.3:g.570267G>C, NP_000043.4:p.Val767Leu +PA166153999 rs2227310 PA26091 CASP7 NC_000010.11:113729393 2 1 0 0 0 XP_006718081.1:p.Asp263Glu, NM_033340.3:c.731C>G, NP_203124.1:p.Asp288=, NC_000010.10:g.115489152C>G, NM_033339.4:c.765C>G, rs2227310, NP_203126.1:p.Thr244Ser, 2227310, 58910029, NP_203124.1:p.Asp288Glu, NM_001227.4:c.765C>G, NM_001267056.1:c.765C>G, XP_006718080.1:p.Asp269Glu, 56575824, rs56575824, NM_033338.5:c.864C>G, NC_000010.11:g.113729393=, NP_203125.1:p.Asp255Glu, NM_001267058.1:c.690C>G, NC_000010.11:g.113729393C>G, XM_006718017.2:c.807C>G, NP_001253987.1:p.Asp230Glu, NM_001267057.1:c.1020C>G, XM_011540260.1:c.666C>G, 58736298, XP_011538562.1:p.Asp222Glu, NP_001253985.1:p.Asp255Glu, rs58736298, XP_011538561.1:p.Asp288Glu, NP_001253986.1:p.Asp340Glu, NP_001218.1:p.Asp255Glu, NC_000010.10:g.115489152=, NC_000010.10:g.115489152C>T, NC_000010.11:g.113729393C>T, XM_011540259.1:c.864C>G, rs58910029, XM_006718018.1:c.789C>G +PA166196175 rs222741 PA37329 TRPV1 NC_000017.11:3605586 1 0 0 0 0 NG_029716.1:g.8826C>A, NG_029716.1:g.8826=, 222741, NC_000017.10:g.3508880=, NC_000017.11:g.3605586=, 386561602, NC_000017.10:g.3508880G>C, NG_029716.1:g.8826C>T, NC_000017.11:g.3605586G>T, NC_000017.10:g.3508880G>A, 527761, 111182599, 58566426, NC_000017.11:g.3605586G>A, NG_029716.1:g.8826C>G, 17707195, NC_000017.10:g.3508880G>T, rs222741, NC_000017.11:g.3605586G>C +PA166196174 rs222747 PA37329 TRPV1 NC_000017.11:3589906 1 0 0 0 0 222747, NC_000017.10:g.3493200C>T, NC_000017.11:g.3589906C>G, NG_029716.1:g.24506=, NG_029716.1:g.24506G>T, NC_000017.10:g.3493200C>A, rs222747, 224542, NC_000017.10:g.3493200=, NC_000017.11:g.3589906C>A, 61044482, NC_000017.10:g.3493200C>G, NG_029716.1:g.24506G>A, NP_061197.4:p.Met315=, NC_000017.11:g.3589906C>T, NG_029716.1:g.24506G>C, NP_061197.4:p.Met315Ile, NC_000017.11:g.3589906= +PA166196173 rs222749 PA37329 TRPV1 NC_000017.11:3592080 1 1 0 0 0 222749, NC_000017.11:g.3592080G>A, NP_061197.4:p.Pro91Ser, 224544, 386561615, 16953225, NC_000017.11:g.3592080=, NP_061197.4:p.Pro91=, NC_000017.10:g.3495374=, NG_029716.1:g.22332C>T, rs222749, NG_029716.1:g.22332=, NC_000017.10:g.3495374G>A +PA166157329 rs2227631 PA261 SERPINE1 NC_000007.14:101126257 2 1 0 0 0 PAI-1-844 G/A, 17252074, 3807512, rs3807512, NM_000602.4:c.-989A>G, rs61391252, XM_005250392.1:c.-989A>G, NC_000007.13:g.100769538=, rs2227631, NC_000007.14:g.101126257A>G, 2227631, NG_013213.1:g.4160=, 61391252, NC_000007.14:g.101126257=, NG_013213.1:g.4160A>G, 36228270, NC_000007.13:g.100769538A>G, rs17252074, rs36228270 +PA166157330 rs2227684 PA261 SERPINE1 NC_000007.14:101133650 1 0 0 0 0 NG_013213.1:g.11553=, NC_000007.14:g.101133650=, NM_000602.4:c.701-45G>A, NG_013213.1:g.11553G>A, NC_000007.14:g.101133650G>T, NC_000007.13:g.100776931G>T, rs2227684, XM_005250392.1:c.656-45G>A, 2227684, rs17135259, 57441338, NG_013213.1:g.11553G>T, NC_000007.13:g.100776931G>A, NC_000007.14:g.101133650G>A, 17135259, rs57441338, NC_000007.13:g.100776931= +PA166157023 rs2227956 PA29498,PA29500,PA25929 HSPA1A,HSPA1L,LSM2 NC_000006.12:31810495 3 1 0 0 0 XM_005275401.2:c.1478T>C, XM_005274860.1:c.1478T>C, XP_005275029.1:p.Thr493=, XM_005274862.1:c.1478T>C, XM_011514566.1:c.1478C>T, XM_005274861.1:c.1478T>C, XP_005275028.1:p.Thr493=, NT_167244.2:g.3143117A>G, XM_005274861.1:c.1478T=, XP_011545954.1:p.Thr493=, XP_005272873.1:p.Met493Thr, XP_011545549.1:p.Met557=, XM_005249070.1:c.1670C=, XM_011547246.1:c.1478T=, XM_005249073.2:c.1478C>T, XM_005272815.1:c.1478T=, XM_005274859.3:c.1670T=, XP_005275027.1:p.Thr557=, XM_005275402.1:c.1478T>C, XM_005274858.1:c.1478T>C, XP_005275030.1:p.Thr493=, XP_011545548.1:p.Met493Thr, XM_005249074.1:c.1478C=, XP_005275031.1:p.Thr493=, XM_005275401.2:c.1478T=, XM_005274861.2:c.1478T>C, XM_005272814.1:c.1478T=, XM_011547246.1:c.1478T>C, 148468928, XP_005274917.1:p.Met493Thr, XM_005274859.1:c.1670T=, XM_005274973.2:c.1478C>T, NT_167244.1:g.3093033A=, XM_005272816.2:c.1478T>C, rs35842419, NC_000006.12:g.31810495G=, XM_011547652.1:c.1478C=, 116591280, NT_113891.2:g.3287853A=, XP_011546540.1:p.Met493Thr, XM_005275398.1:c.1478T>C, 57160046, XM_005272816.1:c.1478T>C, XP_005249130.1:p.Thr493Met, XP_011546541.1:p.Met557Thr, XM_005272813.1:c.1670T>C, XP_005275029.1:p.Thr493Met, XP_005274918.1:p.Met493Thr, XM_005272816.1:c.1478T=, XP_005275456.1:p.Met557Thr, XP_005275456.1:p.Met557=, XP_011546540.1:p.Met493=, NC_000006.12:g.31810495G>A, NC_000006.12:g.31810495G>C, NC_000006.11:g.31778272G=, XM_005274971.1:c.1478C=, XM_005275399.1:c.1670T>C, XP_005275027.1:p.Thr557Met, XM_005249072.1:c.1478C=, XP_005249128.1:p.Thr493=, XM_005272814.1:c.1478T>C, XP_005275458.1:p.Met493=, XM_005274858.1:c.1478T=, XP_005272872.1:p.Met493Thr, XM_005272813.1:c.1670T=, XM_011548239.1:c.1670T=, XP_005274915.1:p.Met493=, NT_167248.2:g.3066324A>G, XM_005249070.3:c.1670C=, XM_005249074.1:c.1478C>T, XM_011548238.1:c.1478T=, XP_005274919.1:p.Met493=, XP_005272873.1:p.Met493=, XP_005274917.1:p.Met493=, XM_005274973.2:c.1478C=, 2227956, NC_000006.12:g.31810495G>T, NT_167245.2:g.3058274G=, XM_011547247.1:c.1670T>C, XM_005275400.1:c.1478T>C, XM_005275401.1:c.1478T=, XM_011548239.1:c.1670T>C, XM_005249072.1:c.1478C>T, XP_011544613.1:p.Met493=, XM_005274972.1:c.1478C>T, XM_005274974.1:c.1478C>T, NC_000006.11:g.31778272=, XP_005249131.1:p.Thr493=, XP_005249131.1:p.Thr493Met, XP_005274919.1:p.Met493Thr, NT_113891.2:g.3287853A>G, XP_005272874.1:p.Met493Thr, XP_005275459.1:p.Met493Thr, XP_011544613.1:p.Met493Thr, XM_005275402.1:c.1478T=, XP_011545954.1:p.Thr493Met, XP_011545549.1:p.Met557Thr, XM_011514566.1:c.1478C=, XM_005249073.2:c.1478C=, XM_005274973.1:c.1478C=, NT_167244.1:g.3093033A>G, XM_005274970.3:c.1670C>T, XM_005274859.1:c.1670T>C, XM_011546311.1:c.1478T=, XM_005249071.1:c.1478C=, NP_005518.3:p.Thr493Met, NG_011855.1:g.9564C>G, XP_005272871.1:p.Met493Thr, NG_011855.1:g.9564C>T, XP_005275028.1:p.Thr493Met, XM_005274970.1:c.1670C=, XP_005272871.1:p.Met493=, NT_167245.1:g.3063859G=, XP_005272872.1:p.Met493=, XM_005249070.1:c.1670C>T, XP_005274916.1:p.Met557=, NT_167248.1:g.3071920A=, XM_005274859.3:c.1670T>C, NT_167244.2:g.3143117A=, 52829371, NT_167245.1:g.3063859G>A, XM_005274970.1:c.1670C>T, rs2227956, XM_005274972.1:c.1478C=, XM_011546311.1:c.1478T>C, NG_011855.1:g.9564=, NM_005527.3:c.1478C=, NT_113891.3:g.3287747A=, NT_167248.2:g.3066324A=, XM_005274974.1:c.1478C=, XP_005274915.1:p.Met493Thr, XP_005272870.1:p.Met557=, XP_005249129.1:p.Thr493Met, XP_011512868.1:p.Thr493Met, XP_005249127.1:p.Thr557=, NC_000006.12:g.31810495=, NC_000006.11:g.31778272G>T, XM_005272817.1:c.1478T>C, XM_011548238.1:c.1478T>C, 117465227, XM_011547652.1:c.1478C>T, XP_005275455.1:p.Met493Thr, rs117465227, XM_005274970.3:c.1670C=, XM_005274862.1:c.1478T=, XP_005249128.1:p.Thr493Met, NT_167245.2:g.3058274G>A, XP_005272870.1:p.Met557Thr, XP_005274916.1:p.Met557Thr, XP_005249127.1:p.Thr557Met, NP_005518.3:p.Thr493Arg, XP_005249129.1:p.Thr493=, 386561656, NG_011855.1:g.9564C=, rs116591280, XM_005272815.1:c.1478T>C, XP_005275457.1:p.Met493=, XP_005275459.1:p.Met493=, NM_005527.3:c.1478C>T, NC_000006.11:g.31778272G>C, NC_000006.11:g.31778272G>A, XP_011512868.1:p.Thr493=, XP_005275455.1:p.Met493=, XM_005272816.2:c.1478T=, rs57160046, NP_005518.3:p.Thr493=, XM_005249073.1:c.1478C=, XP_005275030.1:p.Thr493Met, 35842419, XM_005274861.2:c.1478T=, XM_005249073.1:c.1478C>T, XM_005274860.1:c.1478T=, XM_005272817.1:c.1478T=, rs148468928, XP_011545548.1:p.Met493=, XP_005274918.1:p.Met493=, XP_005272874.1:p.Met493=, NT_113891.3:g.3287747A>G, XM_005275400.1:c.1478T=, XM_005275399.1:c.1670T=, NT_167248.1:g.3071920A>G, XP_005275457.1:p.Met493Thr, NG_011855.1:g.9564C>A, XP_005275031.1:p.Thr493Met, XM_005249071.1:c.1478C>T, XM_005275401.1:c.1478T>C, XP_005275458.1:p.Met493Thr, XM_005274971.1:c.1478C>T, XM_005249070.3:c.1670C>T, XM_005274973.1:c.1478C>T, XP_005249130.1:p.Thr493=, XP_011546541.1:p.Met557=, XM_011547247.1:c.1670T=, NP_005518.3:p.Thr493Lys, XM_005275398.1:c.1478T=, rs386561656, rs52829371 +PA166157331 rs2227983 PA7360 EGFR NC_000007.14:55161562 6 2 0 0 0 NC_000007.14:g.55161562=, NP_005219.2:p.Arg521=, NP_958439.1:p.Arg521Lys, 117960725, NC_000007.13:g.55229255G>A, NP_005219.2:p.Arg521Lys, XP_005271803.1:p.Arg476Lys, NC_000007.14:g.55161562G>T, NG_007726.3:g.147531=, 3752650, rs117960725, NM_005228.3:c.1562G>A, NM_201282.1:c.1562G>A, NG_007726.3:g.147531G>C, NP_005219.2:p.Arg521Thr, NG_007726.3:g.147531G>A, NM_201284.1:c.1562G>A, rs12234746, rs3752650, XM_005271747.1:c.1403G>A, NC_000007.14:g.55161562G>C, NC_000007.13:g.55229255G>C, NC_000007.14:g.55161562G>A, rs17336807, NP_958441.1:p.Arg521Lys, XP_005271804.1:p.Arg468Lys, NG_007726.3:g.147531G>T, rs2227983, rs11543848, 2227983, NC_000007.13:g.55229255G>T, 12234746, XP_005271805.1:p.Arg521Lys, 17336807, NP_005219.2:p.Arg521Met, NC_000007.13:g.55229255=, 11543848, XM_005271748.1:c.1562G>A, XM_005271746.1:c.1427G>A +PA166171094 rs2228000 PA37413 XPC NC_000003.12:14158387 3 1 0 0 0 386561660, NG_011763.1:g.25286C>T, NP_004619.3:p.Ala499=, NC_000003.12:g.14158387G>A, 52792520, NP_004619.3:p.Ala499Val, rs2228000, 2228000, NC_000003.11:g.14199887=, NC_000003.12:g.14158387=, 3729586, NC_000003.11:g.14199887G>A, NG_011763.1:g.25286= +PA166156345 rs2228001 PA134871907,PA37413 TMEM43,XPC NC_000003.12:14145949 9 4 0 0 0 NG_011763.1:g.37724C>A, 17856505, NG_011763.1:g.37724C>G, rs2228001, 2228001, NR_027299.1:n.2795C>A, rs17620623, NP_004619.3:p.Gln939Glu, 60736379, NC_000003.12:g.14145949G>T, NP_001139241.1:p.Gln902Lys, NC_000003.11:g.14187449=, NC_000003.11:g.14187449G>C, NP_004619.3:p.Gln939=, 17620623, NM_001145769.1:c.2704C>A, NC_000003.12:g.14145949=, rs60736379, NC_000003.12:g.14145949G>C, rs3729583, NG_011763.1:g.37724=, NC_000003.11:g.14187449G>T, 3729583, NM_004628.4:c.2815C>A, rs17856505, NP_004619.3:p.Gln939Lys +PA166161516 rs2228014 PA27058 CXCR4 NC_000002.12:136115514 1 1 0 0 0 NP_003458.1:p.Ile138=, NC_000002.12:g.136115514=, NC_000002.11:g.136873084=, 3749135, NC_000002.12:g.136115514G>A, NG_011587.1:g.7642C>T, 386561662, rs2228014, 2228014, NG_011587.1:g.7642=, NC_000002.11:g.136873084G>A, 17848386 +PA166156788 rs2228043 PA29837 IL6ST NC_000005.10:55956103 1 0 0 0 0 NM_175767.2:c.*116C>G, NP_002175.2:p.Leu397Val, NC_000005.10:g.55956103G>C, NC_000005.10:g.55956103=, rs2228043, NC_000005.9:g.55251931G>C, 2228043, NC_000005.9:g.55251931=, NM_001190981.1:c.1189C>G, XP_011541678.1:p.Leu397Val, NP_002175.2:p.Leu397=, XM_011543376.1:c.1189C>G, rs52802716, NR_120480.1:n.1548C>G, NM_002184.3:c.1189C>G, 3729961, rs3729961, NP_001177910.1:p.Leu397Val, 52802716 +PA166157332 rs2228075 PA29862 IMPDH1 NC_000007.14:128394575 2 1 0 0 0 rs117662562, NC_000007.13:g.128034629C>A, XP_005250371.1:p.Ala448=, XP_005250370.1:p.Ala456=, XP_005250372.1:p.Ala440=, XP_005250373.1:p.Ala319=, 117662562, rs10954182, NC_000007.13:g.128034629C>G, XM_006715968.1:c.1545G>A, NC_000007.13:g.128034629=, XM_006715970.2:c.1368G>A, XM_011516157.1:c.957G>A, NM_183243.2:c.1467G>A, NC_000007.13:g.128034629C>T, NP_001136045.1:p.Ala440=, NP_001096075.1:p.Ala515=, XM_005250313.1:c.1368G>A, rs2228075, 58983339, NC_000007.14:g.128394575C>T, NM_001142573.1:c.1320G>A, XM_011516156.1:c.957G>A, NC_000007.14:g.128394575C>G, NP_001136048.1:p.Ala492=, NG_009194.1:g.20408G>A, NC_000007.14:g.128394575C>A, NG_009194.1:g.20408G>C, XP_006716033.1:p.Ala456=, XP_006716030.1:p.Ala525=, XP_006716034.1:p.Ala448=, NC_000007.14:g.128394575=, rs11549799, 10954182, NP_000874.2:p.Ala525=, NM_001304521.1:c.1368G>A, XM_005250314.1:c.1344G>A, NG_009194.1:g.20408=, NP_899066.1:p.Ala489=, NM_001142576.1:c.1476G>A, NG_009194.1:g.20408G>T, XM_005250316.1:c.957G>A, XM_006715971.1:c.1344G>A, XP_011514459.1:p.Ala319=, NM_000883.3:c.1575G>A, rs58983339, XM_006715969.1:c.1467G>A, XP_011514458.1:p.Ala319=, XM_005250315.1:c.1320G>A, XP_006716032.1:p.Ala489=, 2228075, NM_001142574.1:c.1305G>A, 11549799, NP_001291450.1:p.Ala456=, NP_001136047.1:p.Ala415=, XP_006716031.1:p.Ala515=, XM_006715967.1:c.1575G>A, NM_001102605.1:c.1545G>A, NM_001142575.1:c.1245G>A, NP_001136046.1:p.Ala435= +PA166153677 rs2228079 PA24583 ADORA1 NC_000001.11:203129147 1 1 0 0 0 XM_011509203.1:c.-190T>G, NC_000001.10:g.203098275=, rs2275350, XM_005244902.3:c.-179T>G, XP_005244956.1:p.Ala135=, NG_052917.1:g.6443=, XM_005244902.1:c.-179T>G, NC_000001.11:g.203129147=, 57301282, rs17510614, rs10920568, rs57301282, NM_000674.2:c.306T>G, 2275350, NP_000665.1:p.Ala102=, NP_001041695.1:p.Ala102=, NC_000001.10:g.203098275T>G, XM_005244900.1:c.306T>G, NM_001048230.1:c.306T>G, 10920568, 17510614, 2228079, XM_005244903.1:c.-190T>G, rs2228079, XP_005244957.1:p.Ala102=, XM_005244899.1:c.405T>G, XM_011509204.1:c.-118T>G, NC_000001.11:g.203129147T>G, XM_005244901.1:c.-104T>G, NG_052917.1:g.6443T>G +PA166170266 rs2228093 PA24695 ALDH1B1 NC_000009.12:38396005 1 0 0 0 0 2228093, NP_000683.3:p.Ala86Val, NG_012253.1:g.8301C>T, NC_000009.12:g.38396005C>T, rs2228093, NC_000009.11:g.38396002=, NC_000009.11:g.38396002C>G, NC_000009.12:g.38396005=, NG_012253.1:g.8301C>G, NC_000009.12:g.38396005C>G, NG_012253.1:g.8301=, NP_000683.3:p.Ala86Gly, NP_000683.3:p.Ala86=, NC_000009.11:g.38396002C>T +PA166153678 rs2228099 PA24994 ARNT NC_000001.11:150836413 1 0 0 0 0 XP_005245211.1:p.Val180=, XM_011509544.1:c.561G>C, XP_011507847.1:p.Val173=, XP_011507849.1:p.Val173=, 17846580, NM_001668.3:c.567G>C, XM_005245157.1:c.567G>C, XM_005245152.1:c.567G>C, rs4521999, 4521999, NM_178427.2:c.522G>C, NC_000001.11:g.150836413C>G, XM_011509546.1:c.471G>C, XP_005245212.1:p.Val180=, 17859661, XM_011509545.1:c.519G>C, NP_001272964.1:p.Val180=, XM_005245151.1:c.567G>C, XM_005245155.1:c.540G>C, 2228099, NM_001286036.1:c.567G>C, XP_011507848.1:p.Val157=, rs61350770, NP_001659.1:p.Val189=, 2271009, XM_005245159.1:c.519G>C, NG_028248.1:g.45356G>C, XM_005245158.1:c.567G>C, XM_005245154.1:c.540G>C, XM_005245160.1:c.255G>C, XM_005245154.2:c.540G>C, XM_011509542.1:c.564G>C, XM_011509547.1:c.519G>C, XP_011507846.1:p.Val187=, XP_005245209.1:p.Val189=, XM_005245153.1:c.567G>C, XP_005245208.1:p.Val189=, NP_001184254.1:p.Val174=, NP_001272965.1:p.Val189=, XM_005245156.1:c.519G>C, NG_028248.1:g.45356=, rs17846580, NC_000001.11:g.150836413=, XP_011507845.1:p.Val188=, NM_001197325.1:c.522G>C, XP_011507844.1:p.Val188=, 61350770, NP_848514.1:p.Val174=, XP_005245210.1:p.Val189=, rs17859661, rs2228099, NC_000001.10:g.150808889C>G, XM_011509543.1:c.564G>C, NM_001286035.1:c.540G>C, XP_005245214.1:p.Val189=, XP_005245215.1:p.Val189=, XP_005245216.1:p.Val173=, NC_000001.10:g.150808889=, XP_005245217.1:p.Val85=, rs2271009, XP_005245213.1:p.Val173= +PA166155201 rs2228100 PA24697 ALDH3A1 NC_000017.11:19739639 3 1 0 0 0 rs3744696, XP_005256581.1:p.Pro446Ala, 3744696, NC_000017.10:g.19642952=, XP_011522032.1:p.Pro256Ala, NP_000682.3:p.Pro329Ser, NM_001135168.1:c.985C>G, NP_000682.3:p.Pro329Ala, NG_012251.1:g.13795=, NP_001128639.1:p.Pro329Ala, rs56956419, rs2228100, 2228100, NG_012251.1:g.13795C>G, NC_000017.11:g.19739639=, NC_000017.10:g.19642952G>A, NC_000017.10:g.19642952G>C, XM_005256526.1:c.766C>G, 56956419, NG_012251.1:g.13795C>A, XP_005256583.1:p.Pro256Ala, XM_005256523.2:c.1336C>G, XP_005256582.1:p.Pro446Ala, NC_000017.11:g.19739639G>A, XM_005256524.3:c.1336C>G, NP_000682.3:p.Pro329Thr, NC_000017.11:g.19739639G>C, NC_000017.10:g.19642952G>T, XM_011523731.1:c.766C>G, XM_005256525.1:c.1336C>G, NG_012251.1:g.13795C>T, XP_005256579.1:p.Pro446Ala, XP_005256580.1:p.Pro446Ala, XP_011522033.1:p.Pro256Ala, XM_011523730.1:c.766C>G, NC_000017.11:g.19739639G>T, NP_000682.3:p.Pro329=, XM_005256522.1:c.1336C>G, NM_001135167.1:c.985C>G, XM_005256523.1:c.1336C>G, XM_005256524.1:c.1336C>G, NM_000691.4:c.985C>G, NP_001128640.1:p.Pro329Ala +PA166179122 rs2228130 PA33507 POLR2A NC_000017.11:7501672 3 1 0 0 0 NC_000017.11:g.7501672T>A, NG_027747.1:g.22294C>A, NG_027747.2:g.22294T>C, rs2228130, 57123207, NC_000017.11:g.7501672T>C, NC_000017.10:g.7404991T>G, NG_027747.2:g.22294T>A, 4444396, NC_000017.11:g.7501672T>G, NC_000017.10:g.7404991=, NP_000928.1:p.Asn764Lys, NC_000017.11:g.7501672=, 2228130, NG_027747.2:g.22294=, 6503031, 117690562, NG_027747.1:g.22294C>T, NC_000017.10:g.7404991T>A, NP_000928.1:p.Asn764=, NG_027747.2:g.22294T>G, NC_000017.10:g.7404991T>C, NG_027747.1:g.22294C>G +PA166153679 rs2228145 PA29835 IL6R NC_000001.11:154454494 7 0 0 0 0 NG_012087.1:g.54302=, XM_005245138.1:c.1010A>C, NG_012087.1:g.54302A>T, XM_005245139.1:c.924+4514A>C, rs52837205, 2228145, NM_181359.2:c.1066+4514A>C, XM_006711298.1:c.1121A>C, XM_005245140.1:c.931A>C, NC_000001.10:g.154426970=, 58037860, rs2228145, NC_000001.11:g.154454494A>C, XP_005245197.1:p.Ile311Leu, NC_000001.11:g.154454494=, NG_012087.1:g.54302A>C, NC_000001.10:g.154426970A>T, 117579727, NM_000565.3:c.1073A>C, NP_000556.1:p.Asp358Val, XM_006711299.2:c.1114+4514A>C, 8192284, rs117579727, NC_000001.10:g.154426970A>C, rs8192284, XP_005245195.1:p.Asp337Ala, XP_006711361.1:p.Asp374Ala, NP_000556.1:p.Asp358=, 52837205, rs58037860, NP_000556.1:p.Asp358Ala, NC_000001.11:g.154454494A>T +PA166155671 rs2228171 PA30452 LRP2 NC_000002.12:169196995 1 1 0 0 0 NC_000002.11:g.170053505C>T, XP_005246609.1:p.Ala2872Thr, XP_005246608.1:p.Ala2109Thr, 57579868, NG_012634.1:g.170618G>T, 52816657, NP_004516.2:p.Ala2872Thr, rs2302697, 2302697, NC_000002.12:g.169196995=, rs4668123, 117432666, 4668123, XM_005246551.1:c.6325G>A, NP_004516.2:p.Ala2872Pro, XM_011511184.1:c.6325G>A, rs117432666, rs52816657, NP_004516.2:p.Ala2872=, NG_012634.1:g.170618G>C, NG_012634.1:g.170618=, NG_012634.1:g.170618G>A, rs2228171, 2228171, XP_011509485.1:p.Ala2872Thr, NC_000002.11:g.170053505=, NM_004525.2:c.8614G>A, NP_004516.2:p.Ala2872Ser, NC_000002.11:g.170053505C>A, NC_000002.12:g.169196995C>T, XM_011511183.1:c.8614G>A, 17848174, rs17848174, XM_005246552.1:c.8614G>A, XM_011511185.1:c.8614G>A, NC_000002.11:g.170053505C>G, XP_011509487.1:p.Ala2872Thr, NC_000002.12:g.169196995C>A, XP_011509486.1:p.Ala2109Thr, NC_000002.12:g.169196995C>G, rs57579868 +PA166154530 rs2228226 PA24962,PA28720 ARHGAP9,GLI1 NC_000012.12:57472038 1 0 0 0 0 NG_023205.2:g.21777=, 3182229, XM_011538189.1:c.3298G>C, rs3182229, XM_005269083.1:c.*479C>G, rs2228226, XM_005269081.1:c.*479C>G, XM_005269082.1:c.*479C>G, XM_005269080.1:c.*479C>G, NP_005260.1:p.Glu1100=, XM_005268799.2:c.2914G>C, NG_029564.1:g.16904G>C, 2228226, 17548454, XM_005269083.2:c.*479C>G, NC_000012.11:g.57865821=, XM_005269084.2:c.*479C>G, NM_001080157.1:c.*646C>G, XM_005269082.2:c.*479C>G, NM_001160045.1:c.2914G>C, XP_005268856.1:p.Glu972Gln, XM_005268799.1:c.2914G>C, XM_006719560.1:c.*479C>G, NG_029564.1:g.16904=, XM_005269084.1:c.*479C>G, XM_005269085.1:c.*479C>G, NG_023205.2:g.21777C>G, NP_005260.1:p.Glu1100Gln, XP_011536492.1:p.Glu1023Gln, rs17548454, XM_005269078.1:c.*479C>G, XM_005269079.1:c.*479C>G, XP_011536491.1:p.Glu1100Gln, XM_011538659.1:c.*646C>G, NC_000012.12:g.57472038G>C, rs58463097, NC_000012.11:g.57865821G>C, NM_005269.2:c.3298G>C, XM_005269085.2:c.*479C>G, NM_001167609.1:c.3175G>C, NM_001080156.2:c.*479C>G, XM_011538656.1:c.*479C>G, 58463097, NP_001153517.1:p.Glu972Gln, NP_001161081.1:p.Glu1059Gln, XM_011538658.1:c.*479C>G, XM_011538657.1:c.*479C>G, NC_000012.12:g.57472038=, NM_001319850.1:c.*479C>G, NM_001319851.1:c.*479C>G, NM_001319852.1:c.*479C>G, NM_032496.3:c.*479C>G, XM_011538190.1:c.3067G>C +PA166185819 rs2228230 PA33147 PDGFRA NC_000004.12:54285873 2 0 0 0 0 NC_000004.12:g.54285873C>T, NP_006197.1:p.Val824=, NC_000004.11:g.55152040C>T, rs2228230, 2228230, 2291590, NC_000004.11:g.55152040=, NC_000004.11:g.55152040C>A, 57781226, NG_009250.1:g.61777=, NC_000004.12:g.54285873C>A, NG_009250.1:g.61777C>A, NG_009250.1:g.61777C>T, 10015469, NC_000004.12:g.54285873= +PA166155921 rs2228246 PA33392 PLCG1 NC_000020.11:41163423 1 1 0 0 0 57350391, NM_002660.2:c.835A>G, XM_005260438.2:c.835A>G, NP_877963.1:p.Ser279Gly, rs2228246, NC_000020.11:g.41163423=, NC_000020.10:g.39792063A>G, 2228246, XP_011527169.1:p.Ser279Gly, XM_011528865.1:c.298A>G, NC_000020.11:g.41163423A>G, 8192707, 52803627, rs8192707, XP_011527167.1:p.Ser100Gly, XR_936550.1:n.956A>G, NP_002651.2:p.Ser279Gly, NM_182811.1:c.835A>G, XM_005260438.1:c.835A>G, XP_011527168.1:p.Ser279Gly, XM_011528866.1:c.835A>G, NP_002651.2:p.Ser279=, rs52803627, rs57350391, NC_000020.10:g.39792063=, XP_005260495.1:p.Ser279Gly, XR_244143.1:n.956A>G, XM_011528867.1:c.835A>G +PA166156087 rs2228314 PA336 SREBF2 NC_000022.11:41880738 1 0 0 0 0 4822063, rs4822063, NP_004590.2:p.Gly595=, rs2228314, rs11547819, XM_006724310.1:c.1694G>C, NP_004590.2:p.Gly595Ala, NC_000022.11:g.41880738=, NC_000022.10:g.42276742G>C, XP_011528649.1:p.Gly470Ala, NM_004599.3:c.1784G>C, 2228314, XP_006724373.1:p.Gly565Ala, NR_103834.1:n.2076G>C, 11547819, NC_000022.11:g.41880738G>C, NC_000022.10:g.42276742=, XM_011530347.1:c.1409G>C +PA166155030 rs2228478 PA30673,PA134953867 MC1R,TUBB3 NC_000016.10:89920200 1 1 0 0 0 NC_000016.9:g.89986608=, NM_002386.3:c.942A>G, 17850265, NC_000016.9:g.89986608A>G, NC_000016.10:g.89920200A>G, rs2228478, 2228478, NG_012026.1:g.7322A>G, NG_012026.1:g.7322=, NG_027810.1:g.3192=, rs17850265, NG_027810.1:g.3192A>G, NP_002377.4:p.Thr314=, NC_000016.10:g.89920200=, NM_001197181.1:c.-2205A>G +PA166155031 rs2228479 PA30673 MC1R NC_000016.10:89919532 1 1 0 0 0 NG_012026.1:g.6654G>C, NG_027810.1:g.2524G>C, NP_002377.4:p.Val92Met, NP_002377.4:p.Val92Leu, NC_000016.10:g.89919532=, rs2228479, NC_000016.9:g.89985940G>A, NM_002386.3:c.274G>A, NC_000016.9:g.89985940G>C, NG_012026.1:g.6654G>A, NC_000016.10:g.89919532G>A, 2228479, NC_000016.10:g.89919532G>C, NC_000016.9:g.89985940=, NP_002377.4:p.Val92=, NG_027810.1:g.2524=, NG_012026.1:g.6654=, NG_027810.1:g.2524G>A +PA166157024 rs2228480 PA156 ESR1 NC_000006.12:152098960 1 0 0 0 0 rs2228480, 2228480, XM_011535548.1:c.1263G>A, NM_001291230.1:c.1788G>A, NG_008493.1:g.413465G>A, NM_000125.3:c.1782G>A, XM_011535549.1:c.1053G>A, 59762488, XM_005266857.1:c.1779G>A, NC_000006.11:g.152420095=, NC_000006.12:g.152098960G>A, XM_005266856.1:c.1788G>A, NG_008493.2:g.447270=, 3734364, NP_000116.2:p.Thr594=, XP_006715438.1:p.Thr421=, XP_005266914.1:p.Thr593=, XP_011533850.1:p.Thr421=, NM_001122742.1:c.1782G>A, XM_006715374.2:c.*197G>A, XM_006715375.2:c.1263G>A, XM_011535545.1:c.1782G>A, XM_011535546.1:c.1782G>A, NC_000006.11:g.152420095G>A, NM_001122741.1:c.1782G>A, XM_011535544.1:c.1782G>A, 17847080, NM_001291241.1:c.1779G>A, NM_001122740.1:c.1782G>A, rs3734364, XM_011535543.1:c.1782G>A, NP_001116213.1:p.Thr594=, XP_011533845.1:p.Thr594=, NC_000006.12:g.152098960=, NP_001116212.1:p.Thr594=, NP_001116214.1:p.Thr594=, XP_011533846.1:p.Thr594=, NP_001278170.1:p.Thr593=, rs59762488, XP_011533848.1:p.Thr594=, XP_011533851.1:p.Thr351=, NG_008493.2:g.447270G>A, XP_011533847.1:p.Thr594=, rs17847080, NP_001278159.1:p.Thr596=, XP_005266913.1:p.Thr596= +PA166154531 rs2228570 PA37301 VDR NC_000012.12:47879112 11 1 0 0 0 NC_000012.11:g.48272895A>T, 17881966, rs10735810, XM_006719587.2:c.2T>C, rs57067622, NC_000012.11:g.48272895A>G, NM_001017536.1:c.152T>C, rs8179174, 8179174, NP_001017536.1:p.Met51Thr, rs56641119, rs52811041, 57067622, NP_000367.1:p.Met1Lys, NG_008731.1:g.30920T>G, NG_008731.1:g.30920T>C, XP_006719650.1:p.Met1Thr, 52811041, NC_000012.11:g.48272895=, NP_000367.1:p.Met1=, NM_000376.2:c.2T>C, NG_008731.1:g.30920T>A, NP_000367.1:p.Met1Thr, NC_000012.12:g.47879112A>T, rs2228570, NP_000367.1:p.Met1Arg, NC_000012.12:g.47879112=, NC_000012.12:g.47879112A>G, XM_011538720.1:c.2T>C, 2228570, 56641119, NC_000012.12:g.47879112A>C, rs17881966, 117559231, NG_008731.1:g.30920=, NP_001017535.1:p.Met1Thr, NC_000012.11:g.48272895A>C, rs117559231, 10735810, NM_001017535.1:c.2T>C, XP_011537022.1:p.Met1Thr +PA166157743 rs2228622 PA35826,PA134880636 SLC1A1,SPATA6L NC_000009.12:4564432 1 0 0 0 0 NC_000009.11:g.4564432=, rs2228622, XR_242510.1:n.1480-10044C>T, NP_004161.4:p.Thr138=, NC_000009.12:g.4564432=, rs2273899, 2228622, 2273899, XP_011516311.1:p.Thr118=, NC_000009.12:g.4564432G>A, NC_000009.11:g.4564432G>A, NG_017044.1:g.79006G>A, XP_011516309.1:p.Thr161=, NM_004170.5:c.414G>A, NG_017044.1:g.79006=, XM_011518010.1:c.273G>A, 386561697, XP_011516312.1:p.Thr91=, XM_011518008.1:c.423G>A, XM_011518007.1:c.483G>A, XM_011518009.1:c.354G>A, 17768809, rs7856209, 7856209, XP_011516310.1:p.Thr141=, rs386561697, rs17768809 +PA166179815 rs2229046 PA27846 ERBB3 NC_000012.12:56093417 1 1 0 0 0 NC_000012.11:g.56487201=, NC_000012.11:g.56487201T>C, NC_000012.12:g.56093417=, NG_011529.1:g.18310T>C, 2229046, NP_001973.2:p.Ile449=, rs2229046, NC_000012.12:g.56093417T>C, NG_011529.1:g.18310= +PA166157333 rs2229107 PA267 ABCB1 NC_000007.14:87509343 2 0 0 0 0 NM_000927.4:c.3421T>A, 17149694, NP_000918.2:p.Ser1141=, NC_000007.13:g.87138659A>T, NG_011513.1:g.208906=, rs56650970, rs59426833, NC_000007.13:g.87138659=, 59426833, 2229107, 56650970, rs2229107, NC_000007.14:g.87509343A>T, rs17149694, NP_000918.2:p.Ser1141Thr, NC_000007.14:g.87509343=, NG_011513.1:g.208906T>A +PA166157334 rs2229109 PA267 ABCB1 NC_000007.14:87550493 29 7 0 0 0 NP_000918.2:p.Ser400Asn, NG_011513.1:g.167756=, NC_000007.14:g.87550493=, NC_000007.14:g.87550493C>T, 59635509, NG_011513.1:g.167756G>A, NC_000007.13:g.87179809=, NP_000918.2:p.Ser400Ile, NP_000918.2:p.Ser400=, G1199A, rs59635509, 386561706, NC_000007.13:g.87179809C>T, 17276921, NG_011513.1:g.167756G>T, NC_000007.13:g.87179809C>A, 2229109, rs2229109, rs386561706, NC_000007.14:g.87550493C>A, NM_000927.4:c.1199G>A, rs2235031, rs17276921, 2235031 +PA166258304 rs2229110 PA28498 GABRD NC_000001.11:2025598 1 0 0 0 0 NC_000001.10:g.1957037T>C, 61532140, NC_000001.11:g.2025598=, NC_000001.10:g.1957037=, 2229110, 2889474, NP_000806.2:p.Gly110=, rs2229110, NG_008168.1:g.11270T>C, 3737634, NC_000001.11:g.2025598T>C, NG_008168.1:g.11270= +PA166160426 rs2229193 PA28979 GRIN2A NC_000016.10:9849809 1 0 0 0 0 2229193, NG_011812.2:g.337946=, NC_000016.9:g.9943666C>T, NC_000016.9:g.9943666=, NG_011812.2:g.337946G>A, rs2229193, 8049651, NP_000824.1:p.Leu425=, NG_011812.1:g.337946G>A, 117039553, NG_011812.1:g.337946=, NC_000016.10:g.9849809=, NC_000016.10:g.9849809C>T +PA166177058 rs2229205 PA31944 OPRL1 NC_000020.11:64098078 2 1 0 0 0 NC_000020.11:g.64098078=, 58898264, NC_000020.10:g.62729431=, 2229205, NC_000020.10:g.62729431C>T, rs2229205, NC_000020.11:g.64098078C>T, 386561711, NP_000904.1:p.Val170= +PA166154352 rs2229437 PA33705 PRCP NC_000011.10:82853252 1 1 0 0 0 NC_000011.9:g.82564294=, NC_000011.9:g.82564294T>A, NM_005040.3:c.336A>C, NC_000011.9:g.82564294T>G, 17649579, NP_955450.2:p.Glu133Asp, 117542437, NC_000011.10:g.82853252T>G, NM_199418.3:c.399A>C, NP_001306143.1:p.Glu7Asp, 2229437, rs2229437, XP_005274150.1:p.Glu7Asp, NC_000011.10:g.82853252T>A, rs117542437, rs386564200, NP_005031.1:p.Glu112Asp, 386564200, XM_005274093.1:c.21A>C, NC_000011.10:g.82853252=, 52813874, NM_001319214.1:c.21A>C, rs52813874, rs17649579, NP_005031.1:p.Glu112=, 2298668, rs2298668 +PA166155385 rs2229531 PA24448,PA134903355 ACP5,ZNF627 NC_000019.10:11576380 1 0 0 0 0 XM_005259938.1:c.598G>A, rs59380162, NG_028127.1:g.7607=, 2229531, NM_001111034.1:c.598G>A, NP_001602.1:p.Val200Met, rs2229531, XP_005259996.1:p.Val200Met, NM_001611.3:c.598G>A, XM_005259939.1:c.598G>A, 59380162, NC_000019.10:g.11576380C>T, NC_000019.10:g.11576380=, NM_001111035.1:c.598G>A, NP_001104505.1:p.Val200Met, NC_000019.9:g.11687195C>T, NP_001104506.1:p.Val200Met, NG_028127.1:g.7607G>A, XP_011526371.1:p.Val200Met, XM_005259939.3:c.598G>A, XP_005259995.1:p.Val200Met, NC_000019.9:g.11687195=, NM_001111036.1:c.598G>A, NP_001104504.1:p.Val200Met, XM_011528069.1:c.598G>A, NP_001602.1:p.Val200=, XM_011527780.1:c.-94+1027C>T +PA166248082 rs2229540 PA24674 AKR1A1 NC_000001.11:45566639 2 0 0 0 0 NP_006057.1:p.Asn52Ser, NP_006057.1:p.Asn52Thr, NC_000001.11:g.45566639=, NP_006057.1:p.Asn52=, rs2229540, 386561734, 2229540, NC_000001.10:g.46032311A>G, 11545833, NC_000001.10:g.46032311A>C, NC_000001.11:g.45566639A>C, NC_000001.10:g.46032311=, NC_000001.11:g.45566639A>G +PA166179819 rs2229571 PA25256 BARD1 NC_000002.12:214780740 1 0 0 0 0 NC_000002.12:g.214780740C>T, NG_012047.3:g.33972G>A, rs2229571, 17422225, NG_012047.2:g.33965G>C, NG_012047.3:g.33972G>C, NG_012047.2:g.33965G>A, NC_000002.11:g.215645464C>T, 2229571, 52796636, NC_000002.12:g.214780740C>G, NG_012047.3:g.33972=, NC_000002.11:g.215645464=, NG_012047.2:g.33965=, NC_000002.11:g.215645464C>G, NC_000002.12:g.214780740=, NP_000456.2:p.Arg378=, 3768706, 59232697, NP_000456.2:p.Arg378Ser +PA166154532 rs2229774 PA34227 RARG NC_000012.12:53211761 10 1 0 1 0 XP_005269111.1:p.Ser514Leu, NG_029822.1:g.25496C>T, NC_000012.12:g.53211761G>A, rs61642612, NC_000012.11:g.53605545G>A, NM_001243731.1:c.917C>T, XM_005269055.2:c.1541C>T, 2229774, rs2229774, XP_011536930.1:p.Ser355Leu, NP_001036193.1:p.Ser416Leu, XM_005269054.2:c.1541C>T, NP_000957.1:p.Ser427=, NM_000966.5:c.1280C>T, XM_005269056.2:c.1280C>T, NP_001230660.1:p.Ser306Leu, NM_001042728.2:c.1247C>T, NM_001243732.1:c.1214C>T, XM_011538628.1:c.1064C>T, XP_005269114.1:p.Ser427Leu, NG_029822.1:g.25496=, NP_001230661.1:p.Ser405Leu, NM_001243730.1:c.1064C>T, NP_001230659.1:p.Ser355Leu, XM_005269054.1:c.1541C>T, XM_005269055.1:c.1541C>T, XP_005269112.1:p.Ser514Leu, XP_005269113.1:p.Ser427Leu, rs116930311, NC_000012.11:g.53605545=, XM_005269057.1:c.1280C>T, 61642612, XM_005269056.1:c.1280C>T, NP_000957.1:p.Ser427Leu, NC_000012.12:g.53211761=, 116930311 +PA166154000 rs2229935 PA31783 NRP1 NC_000010.11:33221735 1 0 0 0 0 NR_045259.1:n.1607C>T, XM_011519756.1:c.1266C>T, rs61457517, NG_030328.1:g.118171C>T, XM_011519755.1:c.1266C>T, rs3818194, NP_001231902.1:p.Tyr422=, rs4934838, NP_001019800.1:p.Tyr422=, NM_003873.5:c.1266C>T, 2229935, 61457517, NC_000010.10:g.33510663=, NP_001019799.1:p.Tyr422=, rs58974589, rs2229935, 4934838, NC_000010.11:g.33221735=, NC_000010.11:g.33221735G>A, NP_003864.4:p.Tyr422=, 58974589, NG_030328.1:g.118171=, XP_006717585.1:p.Tyr422=, XP_006717586.1:p.Tyr422=, NM_001024628.2:c.1266C>T, XP_011518057.1:p.Tyr422=, XP_006717584.1:p.Tyr422=, XP_006717588.1:p.Tyr422=, NM_001024629.2:c.1266C>T, XP_011518058.1:p.Tyr422=, XM_006717525.1:c.1266C>T, XM_006717526.1:c.1266C>T, XM_006717524.1:c.1266C>T, XP_006717587.1:p.Tyr422=, NM_001244972.1:c.1266C>T, XM_006717521.1:c.1266C>T, XM_006717522.1:c.1266C>T, NC_000010.10:g.33510663G>A, XM_006717523.1:c.1266C>T, NM_001244973.1:c.1266C>T, XP_006717589.1:p.Tyr422=, 3818194, NP_001231901.1:p.Tyr422= +PA166156789 rs2229944 PA28496 GABRB2 NC_000005.10:161294312 1 0 0 0 0 NC_000005.10:g.161294312=, rs118051818, NP_000804.1:p.Ala398=, 386561760, NM_000813.2:c.1194C>T, NG_047050.1:g.258813=, NM_021911.2:c.1308C>T, XM_005265867.1:c.1308C>T, XP_005265924.1:p.Ala436=, XP_011532803.1:p.Ala186=, NC_000005.9:g.160721319G>A, NC_000005.10:g.161294312G>A, 118051818, XP_005265926.1:p.Ala400=, rs2229944, XM_005265868.1:c.1194C>T, XP_005265925.1:p.Ala398=, XM_005265869.1:c.1200C>T, 2229944, NC_000005.9:g.160721319=, rs386561760, NG_047050.1:g.258813C>T, NP_068711.1:p.Ala436=, XM_011534501.1:c.558C>T +PA166181105 rs2229949 PA26008 CACNA1B NC_000009.12:138122079 1 0 0 0 0 2229949, 60567008, rs2229949, NC_000009.11:g.141016531=, NG_042271.1:g.249291C>T, NG_042271.1:g.249291=, NC_000009.12:g.138122079C>T, NC_000009.12:g.138122079=, NC_000009.11:g.141016531C>T +PA166155922 rs2229959 PA26490 CHRNA4 NC_000020.11:63350202 3 2 0 0 0 NG_011931.1:g.16142G>A, NM_000744.6:c.1209G>T, rs2229959, NP_000735.1:p.Pro403=, XM_005260190.1:c.681G>T, NC_000020.11:g.63350202=, rs117047381, 2229959, NP_001243502.1:p.Pro227=, XM_005260189.1:c.996G>T, XP_011526826.1:p.Pro332=, NC_000020.10:g.61981554C>T, XP_005260246.1:p.Pro332=, XM_011528524.1:c.996G>T, XM_005260191.1:c.681G>T, NG_011931.1:g.16142=, NR_046317.1:n.1465G>T, XP_005260248.1:p.Pro227=, NC_000020.11:g.63350202C>A, XP_005260247.1:p.Pro227=, NC_000020.10:g.61981554C>A, NG_011931.1:g.16142G>T, 117047381, NC_000020.11:g.63350202C>T, NC_000020.10:g.61981554=, NM_001256573.1:c.681G>T +PA166157867 rs2230037 PA28469 G6PD NC_000023.11:154532439 0 3 3 0 0 NG_009015.2:g.20134T=, XM_005274657.1:c.1404C>T, XM_005277834.1:c.1314T>C, XM_005274658.1:c.1314C>T, NM_000402.4:c.1401T=, XM_005277833.1:c.1404T>C, XM_011531132.1:c.*328T>C, NG_009015.2:g.20134=, 17849296, NP_001035810.1:p.Tyr437=, NW_003871103.3:g.1966418A>G, rs17849296, NW_003871103.3:g.1966418A=, XM_005274658.2:c.1314T=, NC_000023.11:g.154532439=, NM_001042351.2:c.1311T>C, XM_005277833.1:c.1404T=, NC_000023.11:g.154532439G>A, rs5030871, 5030871, NC_000023.11:g.154532439A>G, NM_001042351.2:c.1311T=, NC_000023.10:g.153760654G=, XM_011531132.1:c.*328T=, NP_000393.4:p.Tyr467=, NC_000023.10:g.153760654G>A, NG_009015.2:g.20134T>C, XM_005274658.1:c.1314C=, XM_005274658.2:c.1314T>C, XM_005274657.2:c.1404T>C, NC_000023.11:g.154532439A=, XP_005274714.1:p.Tyr468=, XM_005274657.1:c.1404C=, NM_000402.4:c.1401T>C, XP_005277890.1:p.Tyr468=, XP_005277891.1:p.Tyr438=, XM_005274657.2:c.1404T=, 2230037, rs2230037, XP_005274715.1:p.Tyr438=, XM_005277834.1:c.1314T= +PA166155672 rs2230054 PA29843 CXCR2 NC_000002.12:218135587 1 0 0 0 0 3883989, rs3883989, NG_052975.1:g.15298C>T, XP_005246586.1:p.Leu262=, NC_000002.12:g.218135587C>T, NC_000002.11:g.219000310=, NC_000002.11:g.219000310C>T, XM_005246530.1:c.786C>T, XP_005246587.1:p.Leu262=, XP_005246588.1:p.Leu262=, NP_001161770.1:p.Leu262=, NC_000002.12:g.218135587=, NG_052975.1:g.15298=, XM_005246529.1:c.786C>T, rs17844700, 2234672, NM_001168298.1:c.786C>T, XM_005246530.2:c.786C>T, rs57849916, NM_001557.3:c.786C>T, 17844700, 57849916, NP_001548.1:p.Leu262=, XM_005246531.1:c.786C>T, 2230054, rs2230054, rs2234672 +PA166155386 rs2230199 PA25897 C3 NC_000019.10:6718376 3 0 0 0 0 NC_000019.9:g.6718387G>T, NC_000019.10:g.6718376G>C, rs11569409, NG_009557.1:g.7276=, 11569409, NP_000055.2:p.Arg102=, NC_000019.9:g.6718387=, NG_009557.1:g.7276C>A, NC_000019.9:g.6718387G>C, NC_000019.10:g.6718376=, NC_000019.10:g.6718376G>T, NP_000055.2:p.Arg102Ser, NM_000064.2:c.304C>G, NG_009557.1:g.7276C>G, NP_000055.2:p.Arg102Gly, 2230199, rs2230199, NM_000064.3:c.304C>G +PA166155387 rs2230205 PA25897 C3 NC_000019.10:6709693 1 0 0 0 0 3745560, NC_000019.9:g.6709704=, NP_000055.2:p.Thr612=, rs3745560, NG_009557.1:g.15959=, NG_009557.1:g.15959G>A, 17718234, 57515675, rs41313147, NM_000064.3:c.1836G>A, NC_000019.10:g.6709693C>T, rs17718234, 2230205, rs2230205, NC_000019.9:g.6709704C>T, NM_000064.2:c.1836G>A, NC_000019.10:g.6709693=, 41313147, rs57515675 +PA166162451 rs2230229 PA36597 TNFRSF10A NC_000008.11:23191779 1 0 0 0 0 NP_003835.3:p.Arg441Thr, 17856410, 386561770, NC_000008.10:g.23049292C>T, NG_032107.1:g.38389=, NG_032107.1:g.38389G>A, NP_003835.3:p.Arg441Lys, 117741658, NC_000008.11:g.23191779C>G, NC_000008.10:g.23049292=, 59918525, NG_032107.1:g.38389G>C, NP_003835.3:p.Arg441=, 2230229, rs2230229, 52803224, NC_000008.11:g.23191779=, NC_000008.10:g.23049292C>G, NC_000008.11:g.23191779C>T +PA166154001 rs2230345 PA180 GRK5 NC_000010.11:119326585 12 2 0 0 0 NP_005299.1:p.Gln41=, NP_005299.1:p.Gln41Leu, 17098707, rs52829401, NM_005308.2:c.122A>T, XP_005269764.1:p.Gln41Leu, NC_000010.11:g.119326585A>T, 45630571, XM_005269707.1:c.122A>T, 52829401, NC_000010.11:g.119326585=, XM_005269708.1:c.53-54230A>T, 2230345, rs2230345, NC_000010.10:g.121086097A>T, rs45630571, rs17098707, NC_000010.10:g.121086097= +PA166276781 rs2230349 PA180 GRK5 NC_000010.11:119436823 1 0 0 0 0 2275041, NC_000010.11:g.119436823G>C, 12718341, NC_000010.11:g.119436823G>A, NC_000010.11:g.119436823=, NC_000010.10:g.121196335=, NP_005299.1:p.Arg304His, 2230349, NP_005299.1:p.Arg304=, NP_005299.1:p.Arg304Pro, rs2230349, NC_000010.10:g.121196335G>A, NC_000010.10:g.121196335G>C +PA166154002 rs2230395 PA29953 ITGB1 NC_000010.11:32922299 1 0 0 0 0 XM_005252448.1:c.1086A>C, NG_029012.1:g.41067=, XP_005252505.1:p.Ala362=, NC_000010.11:g.32922299T>A, NM_133376.2:c.1086A>C, NC_000010.11:g.32922299T>G, NC_000010.10:g.33211227T>G, NC_000010.10:g.33211227=, NC_000010.11:g.32922299=, NG_029012.1:g.41067A>C, 117994969, NC_000010.10:g.33211227T>A, rs117994969, NM_002211.3:c.1086A>C, 57973085, NG_029012.1:g.41067A>T, rs59510058, 11009147, 2298140, rs2298140, rs57973085, NP_391988.1:p.Ala362=, rs11009147, 59510058, NM_033668.2:c.1086A>C, 2230395, rs2230395, NP_002202.2:p.Ala362=, NP_596867.1:p.Ala362= +PA166285441 rs2230414 PA34241 RASGRP2 NC_000011.10:64728885 1 0 0 0 0 NC_000011.10:g.64728885G>T, NC_000011.9:g.64496357=, 2230414, rs2230414, NG_007574.1:g.21572=, 2277310, NC_000011.10:g.64728885=, NC_000011.9:g.64496357G>T, NG_007574.1:g.21572C>A, NP_001092141.1:p.Gly583= +PA166322241 rs2230433 PA29948 ITGAL NC_000016.10:30506720 1 0 0 0 0 3087440, NP_002200.2:p.Arg791Thr, NP_002200.2:p.Arg791=, NC_000016.10:g.30506720=, NC_000016.9:g.30518041=, 17839546, 2230433, NC_000016.10:g.30506720G>C, rs2230433, 59554592, NC_000016.9:g.30518041G>C +PA166156790 rs2230641 PA26159 CCNH NC_000005.10:87399457 1 0 0 0 0 17858626, rs52806744, XM_005248627.1:c.809T>C, 386562897, rs3765057, rs17845686, 3765057, XP_005248685.1:p.Val270Ala, NP_001230.1:p.Val270Asp, NM_001239.3:c.809T>C, NC_000005.9:g.86695274=, XM_011543706.1:c.809T>C, NC_000005.10:g.87399457A>G, rs2266690, 2266690, XM_005248628.1:c.809T>C, 117919113, 17845686, rs117919113, XP_005248686.1:p.Val217Ala, 2230641, NC_000005.10:g.87399457A>T, rs2230641, NP_001186118.1:p.Val217Ala, rs386562897, XM_005248629.3:c.650T>C, NP_001230.1:p.Val270Ala, 3093826, rs3093826, NC_000005.10:g.87399457=, NC_000005.9:g.86695274A>T, XP_005248684.1:p.Val270Ala, XP_011542008.1:p.Val270Ala, NM_001199189.1:c.650T>C, rs17858626, 52806744, NC_000005.9:g.86695274A>G, XM_005248627.2:c.809T>C, XM_005248629.1:c.650T>C, NP_001230.1:p.Val270= +PA166256505 rs2230671 PA244 ABCC1 NC_000016.10:16134385 1 0 0 0 0 NC_000016.9:g.16228242G>C, NG_028268.2:g.189809G>C, NP_004987.2:p.Ser1334=, NC_000016.10:g.16134385G>C, NC_000016.9:g.16228242=, 61490454, NC_000016.10:g.16134385G>A, NG_028268.2:g.189809G>A, 386562178, NC_000016.10:g.16134385=, NC_000016.9:g.16228242G>A, 17289354, 2239330, 2230671, rs2230671, 117326356, NG_028268.2:g.189809= +PA166293521 rs2230739 PA30 ADCY9 NC_000016.10:3983435 1 0 0 0 0 60378382, NP_001107.2:p.Ile772=, NC_000016.10:g.3983435=, NC_000016.10:g.3983435T>C, NC_000016.10:g.3983435T>A, NC_000016.10:g.3983435T>G, NG_011434.2:g.137751A>T, 2230739, rs2230739, NG_011434.2:g.137751A>G, 17184038, 117809614, NC_000016.9:g.4033436T>G, NP_001107.2:p.Ile772Met, NC_000016.9:g.4033436T>C, NC_000016.9:g.4033436=, NG_011434.2:g.137751=, NC_000016.9:g.4033436T>A, 2531981, NG_011434.2:g.137751A>C +PA166157744 rs2230806 PA24373 ABCA1 NC_000009.12:104858586 4 5 0 0 0 XP_011516643.1:p.Arg244Lys, XM_005251780.1:c.656G>A, XP_005251831.1:p.Arg219Lys, NP_005493.2:p.Arg219=, NC_000009.11:g.107620867C>T, NG_007981.1:g.74570=, XM_005251778.1:c.656G>A, rs2853572, XM_011518342.1:c.293G>A, XP_005251837.1:p.Arg219Lys, NC_000009.12:g.104858586C>T, XM_011518344.1:c.731G>A, rs52801000, XM_005251775.1:c.593G>A, XP_005251833.1:p.Arg159Lys, 2230806, XM_011518343.1:c.731G>A, NC_000009.11:g.107620867C>G, NC_000009.12:g.104858586C>G, XM_005251773.1:c.656G>A, rs61696010, XM_005251777.1:c.656G>A, 2234884, NG_007981.1:g.74570G>C, rs2234884, XM_011518339.1:c.731G>A, XP_011516645.1:p.Arg244Lys, NC_000009.11:g.107620867=, XM_005251774.1:c.656G>A, NG_007981.1:g.74570G>A, NC_000009.12:g.104858586=, XP_005251832.1:p.Arg198Lys, 52801000, XM_011518341.1:c.731G>A, NP_005493.2:p.Arg219Lys, XP_005251834.1:p.Arg219Lys, XM_005251776.1:c.476G>A, 61696010, 2853572, XP_011516642.1:p.Arg244Lys, XM_011518340.1:c.731G>A, NM_005502.3:c.656G>A, XP_005251830.1:p.Arg219Lys, rs2230806, NP_005493.2:p.Arg219Thr, XP_011516646.1:p.Arg244Lys, XP_005251835.1:p.Arg219Lys, XP_011516641.1:p.Arg244Lys, XP_011516644.1:p.Arg98Lys +PA166157745 rs2230808 PA24373 ABCA1 NC_000009.12:104800523 1 1 0 0 0 XM_005251777.1:c.4766A>G, NC_000009.12:g.104800523T>A, NC_000009.12:g.104800523T>C, 2234886, NC_000009.12:g.104800523=, NG_007981.1:g.132633A>T, XP_011516642.1:p.Lys1614Arg, rs2234886, XM_005251774.1:c.4766A>G, XM_005251778.1:c.4766A>G, XM_005251775.1:c.4703A>G, XP_011516643.1:p.Lys1612Arg, NP_005493.2:p.Lys1587Arg, NP_005493.2:p.Lys1587Ile, XM_011518342.1:c.4403A>G, XP_005251832.1:p.Lys1568Arg, XM_005251780.1:c.4766A>G, XP_005251836.1:p.Lys1315Arg, XP_005251837.1:p.Lys1589Arg, XM_005251776.1:c.4586A>G, NG_007981.1:g.132633A>G, XM_011518340.1:c.4841A>G, XM_005251773.1:c.4766A>G, rs57688810, XM_005251779.1:c.3944A>G, NP_005493.2:p.Lys1587=, NC_000009.11:g.107562804T>C, NG_007981.1:g.132633=, XP_011516645.1:p.Lys1614Arg, XM_011518343.1:c.4841A>G, NC_000009.11:g.107562804T>A, 57688810, XP_005251835.1:p.Lys1589Arg, 2230808, rs2230808, XP_005251831.1:p.Lys1589Arg, NM_005502.3:c.4760A>G, XM_011518341.1:c.4835A>G, XP_005251833.1:p.Lys1529Arg, XP_011516641.1:p.Lys1614Arg, XP_005251830.1:p.Lys1589Arg, NC_000009.11:g.107562804=, XP_011516644.1:p.Lys1468Arg, XP_005251834.1:p.Lys1589Arg, XM_011518339.1:c.4841A>G +PA166196171 rs2230912 PA32866 P2RX7 NC_000012.12:121184393 1 0 0 0 0 NG_011471.2:g.56519A>G, NC_000012.11:g.121622196=, NG_011471.2:g.56519=, 2230912, NP_002553.3:p.Gln460Arg, rs2230912, 60366484, NC_000012.11:g.121622196A>G, 52832228, 17465760, NC_000012.12:g.121184393=, NC_000012.12:g.121184393A>G, NP_002553.3:p.Gln460= +PA166165093 rs2230926 PA36593 TNFAIP3 NC_000006.12:137874929 2 0 0 0 0 NC_000006.11:g.138196066T>G, NC_000006.11:g.138196066T>C, NC_000006.11:g.138196066=, NG_032761.1:g.12486T>G, 2230926, rs2230926, NC_000006.12:g.137874929T>C, NP_006281.1:p.Phe127=, NG_032761.1:g.12486T>C, NC_000006.12:g.137874929T>G, NC_000006.12:g.137874929=, NG_032761.1:g.12486=, 52802446, NP_006281.1:p.Phe127Cys, 5029942, 61407535, NP_006281.1:p.Phe127Ser +PA166156542 rs2231135 PA390 ABCG2 NC_000004.12:88158842 1 1 0 0 0 NC_000004.12:g.88158842=, NC_000004.12:g.88158842A>G, XM_005263356.2:c.-476T>C, XM_005263355.2:c.-19-18828T>C, XM_011532420.1:c.-19-18828T>C, rs2231135, XM_005263354.2:c.-285T>C, 57106183, NM_001257386.1:c.-19-18828T>C, NM_004827.2:c.-476T>C, NC_000004.11:g.89079994A>G, XM_005263355.1:c.-19-18828T>C, NC_000004.11:g.89079994=, NG_032067.2:g.77481=, NG_032067.2:g.77481T>C, rs57106183, 2231135, XM_005263354.1:c.-285T>C, XM_005263356.1:c.-476T>C +PA166156543 rs2231137 PA390 ABCG2 NC_000004.12:88139962 26 3 0 0 1 NP_004818.2:p.Val12Met, NP_004818.2:p.Val12=, NC_000004.11:g.89061114C>T, XP_005263412.1:p.Val12Met, XM_005263355.2:c.34G>A, XM_005263356.1:c.34G>A, rs2231137, NC_000004.12:g.88139962C>T, XP_005263411.1:p.Val12Met, XP_011530722.1:p.Val12Met, NG_032067.2:g.96361G>A, XP_005263413.1:p.Val12Met, NP_001244315.1:p.Val12Met, XM_005263356.2:c.34G>A, NC_000004.11:g.89061114=, NM_004827.2:c.34G>A, NM_001257386.1:c.34G>A, XM_005263354.2:c.34G>A, XM_005263355.1:c.34G>A, 2231137, NG_032067.2:g.96361=, XM_005263354.1:c.34G>A, XM_011532420.1:c.34G>A, NC_000004.12:g.88139962= +PA166156544 rs2231142 PA390 ABCG2 NC_000004.12:88131171 164 26 0 2 4 NP_004818.2:p.Gln141Lys, NC_000004.12:g.88131171G>C, XM_005263354.1:c.421C>A, rs28365035, 52809243, NC_000004.12:g.88131171=, rs3736117, XP_005263413.1:p.Gln141Lys, 3736117, XM_005263355.1:c.421C>A, XM_005263356.2:c.421C>A, rs58973676, 28365035, 12721641, 58973676, NG_032067.2:g.105152=, NM_004827.2:c.421C>A, NP_001244315.1:p.Gln141Lys, rs2231142, XP_011530722.1:p.Gln141Lys, XM_005263356.1:c.421C>A, XP_005263411.1:p.Gln141Lys, NC_000004.11:g.89052323=, NP_004818.2:p.Gln141=, XM_005263354.2:c.421C>A, rs12721641, NC_000004.11:g.89052323G>C, NP_004818.2:p.Gln141Glu, XM_011532420.1:c.421C>A, NC_000004.12:g.88131171G>T, NM_001257386.1:c.421C>A, XP_005263412.1:p.Gln141Lys, rs52809243, NG_032067.2:g.105152C>A, XM_005263355.2:c.421C>A, NG_032067.2:g.105152C>G, NC_000004.11:g.89052323G>T, 2231142 +PA166156545 rs2231148 PA390 ABCG2 NC_000004.12:88107326 1 0 0 0 0 NC_000004.12:g.88107326T>C, XM_005263356.2:c.1189-60A>T, NC_000004.12:g.88107326T>A, XM_005263355.1:c.1195-60A>T, XM_005263355.2:c.1195-60A>T, rs2231148, XM_005263356.1:c.1189-60A>T, XM_011532420.1:c.1195-60A>T, XM_005263354.1:c.1195-60A>T, NG_032067.2:g.128997=, NC_000004.11:g.89028478=, NG_032067.2:g.128997A>G, NM_001257386.1:c.1195-60A>T, NC_000004.11:g.89028478T>C, XM_005263354.2:c.1195-60A>T, NG_032067.2:g.128997A>T, NM_004827.2:c.1195-60A>T, 2231148, NC_000004.12:g.88107326=, NC_000004.11:g.89028478T>A +PA166156546 rs2231164 PA390 ABCG2 NC_000004.12:88094705 1 0 0 0 0 XM_005263356.2:c.1732-46G>A, NG_032067.2:g.141618G>A, NM_001257386.1:c.1728-46G>A, XM_005263356.1:c.1732-46G>A, 386561805, XM_005263354.2:c.1738-46G>A, XM_005263354.1:c.1738-46G>A, 59707155, XM_005263355.1:c.1738-46G>A, NC_000004.12:g.88094705C>A, 3816742, rs3816742, rs59707155, NC_000004.11:g.89015857C>A, rs386561805, NG_032067.2:g.141618G>T, XM_011532420.1:c.1738-46G>A, XM_005263355.2:c.1738-46G>A, rs2231164, NC_000004.11:g.89015857=, NC_000004.12:g.88094705C>T, NG_032067.2:g.141618=, NM_004827.2:c.1738-46G>A, NC_000004.11:g.89015857C>T, NC_000004.12:g.88094705=, 2231164 +PA166169445 rs2231198 PA24683 AKR7A3 NC_000001.11:19285983 1 0 0 0 0 rs2231198, NC_000001.11:g.19285983C>G, NC_000001.10:g.19612477C>G, 59246333, 17852954, NC_000001.11:g.19285983C>T, NC_000001.10:g.19612477=, 117890824, NC_000001.11:g.19285983=, NP_036199.2:p.Val138Leu, NP_036199.2:p.Val138Met, 13374777, NP_036199.2:p.Val138=, 2231198, 11539611, NC_000001.10:g.19612477C>T +PA166156346 rs2232165 PA28677 GHSR NC_000003.12:172448354 1 0 0 0 0 rs2232165, NM_004122.2:c.60C>T, 2232165, NC_000003.12:g.172448354=, NC_000003.11:g.172166144G>A, NC_000003.11:g.172166144=, NP_004113.1:p.Asp20=, rs16845637, NG_021159.1:g.5103=, 16845637, NG_021159.1:g.5103C>T, NM_198407.2:c.60C>T, NP_940799.1:p.Asp20=, rs386497610, rs57930503, rs56532783, 386497610, 56532783, 57930503, NC_000003.12:g.172448354G>A +PA166155032 rs2232228 PA29196 HAS3 NC_000016.10:69109674 2 1 0 0 0 XP_005255977.1:p.Ala93=, NG_047056.1:g.9111A>G, XM_005255920.1:c.279A>G, NC_000016.10:g.69109674A>C, rs17845662, rs2232228, NC_000016.10:g.69109674A>G, 2232228, NP_005320.2:p.Ala93=, NP_619515.1:p.Ala93=, XM_011523061.1:c.279A>G, NG_047056.1:g.9111A>C, NM_001199280.1:c.279A>G, XP_005255978.1:p.Ala93=, rs17858598, XM_005255921.1:c.279A>G, 17858598, NC_000016.9:g.69143577=, NM_138612.2:c.279A>G, rs61175697, 17845662, NM_005329.2:c.279A>G, 61175697, XP_011521363.1:p.Ala93=, NG_047056.1:g.9111=, NC_000016.9:g.69143577A>C, XM_005255919.1:c.687A>G, XP_005255976.1:p.Ala229=, 3743679, rs3743679, NP_001186209.1:p.Ala93=, NC_000016.9:g.69143577A>G, NC_000016.10:g.69109674= +PA166162263 rs2232365 PA201094 FOXP3 NC_000023.11:49259429 1 0 0 0 0 rs2232365, 2232365, NG_007392.1:g.10403A>C, 12849847, NG_007392.1:g.10403A>G, NC_000023.11:g.49259429=, NC_000023.11:g.49259429T>A, NC_000023.11:g.49259429T>G, NG_007392.1:g.10403A>T, NC_000023.10:g.49115886=, NC_000023.11:g.49259429T>C, NC_000023.10:g.49115886T>G, NC_000023.10:g.49115886T>C, NG_007392.1:g.10403=, NC_000023.10:g.49115886T>A, 59813703 +PA166171153 rs2233006 PA398 MAD2L2 NC_000001.11:11681739 1 0 0 0 0 NC_000001.10:g.11741796T>C, NG_052907.1:g.15050A>T, 3753857, NC_000001.10:g.11741796T>A, rs2233006, 2233006, NC_000001.11:g.11681739=, NC_000001.11:g.11681739T>A, NG_052907.1:g.15050=, NC_000001.11:g.11681739T>C, 58018346, NC_000001.10:g.11741796=, NG_052907.1:g.15050A>G +PA166156791 rs2233302 PA28951,PA128394573 GPX3,TNIP1 NC_000005.10:151035537 1 0 0 0 0 NM_001252386.1:c.1362+45G>C, XM_006714752.1:c.1521+45G>C, NC_000005.10:g.151035537=, NC_000005.9:g.150415098C>A, NM_001252391.1:c.1521+45G>C, XM_011537538.1:c.1521+45G>C, NM_001258456.1:c.1521+45G>C, XM_006714751.1:c.1521+45G>C, NC_000005.10:g.151035537C>A, NG_030590.1:g.57124=, NC_000005.9:g.150415098C>G, NM_001252392.1:c.1521+45G>C, NG_030590.1:g.57124G>T, NC_000005.10:g.151035537C>G, NM_006058.4:c.1521+45G>C, rs2233302, 2233302, XM_005268355.1:c.1521+45G>C, NM_001252393.1:c.1521+45G>C, NM_001252385.1:c.1521+45G>C, NG_030590.1:g.57124G>C, NM_001258454.1:c.1521+45G>C, NM_001252390.1:c.1521+45G>C, NC_000005.9:g.150415098=, NM_001258455.1:c.1521+45G>C +PA166239282 rs2233385 PA31561 NEU2 NC_000002.12:233032793 1 0 0 0 0 2233385, NC_000002.12:g.233032793=, NC_000002.11:g.233897503=, NP_005374.2:p.Arg41Gln, NP_005374.2:p.Arg41=, NC_000002.12:g.233032793G>A, NC_000002.11:g.233897503G>A, rs2233385 +PA166203407 rs2233406 PA31601 NFKBIA NC_000014.9:35405593 2 1 0 0 0 386561929, NC_000014.9:g.35405593=, NC_000014.9:g.35405593G>A, rs2233406, 2233406, NC_000014.8:g.35874799=, NG_007571.1:g.4146=, NC_000014.8:g.35874799G>A, NG_007571.1:g.4146C>T +PA166203408 rs2233407 PA31601 NFKBIA NC_000014.9:35405317 2 1 0 0 0 NG_007571.1:g.4422A>T, NC_000014.8:g.35874523T>A, rs2233407, 2233407, NC_000014.8:g.35874523T>C, NC_000014.8:g.35874523=, NC_000014.9:g.35405317=, 11569592, NC_000014.9:g.35405317T>A, NC_000014.9:g.35405317T>C, NG_007571.1:g.4422A>G, 36227305, NG_007571.1:g.4422= +PA166203409 rs2233409 PA31601 NFKBIA NC_000014.9:35405064 2 1 0 0 0 NC_000014.9:g.35405064G>A, NC_000014.8:g.35874270G>A, NG_007571.1:g.4675=, 36227304, NC_000014.9:g.35405064=, NC_000014.8:g.35874270=, rs2233409, 2233409, NG_007571.1:g.4675C>T +PA166181044 rs2233678 PA33320 PIN1 NC_000019.10:9834503 2 2 0 0 0 NC_000019.9:g.9945179=, NC_000019.10:g.9834503G>C, NC_000019.10:g.9834503G>A, rs2233678, 2233678, NG_029167.1:g.4297=, NC_000019.10:g.9834503=, NG_029167.1:g.4297G>C, NC_000019.9:g.9945179G>C, NG_029167.1:g.4297G>A, NC_000019.9:g.9945179G>A +PA166179466 rs2233914 PA162388608,PA118 FKBP15,SLC31A1 NC_000009.12:113221260 2 1 0 0 0 17524958, 57425484, 52836327, rs2233914, 17553649, NC_000009.12:g.113221260=, NC_000009.12:g.113221260G>A, NC_000009.11:g.115983540=, 2233914, 3810916, NC_000009.11:g.115983540G>A +PA166157025 rs2233945 PA33919,PA33920 PSORS1C1,PSORS1C2 NC_000006.12:31139584 3 1 0 0 0 NM_014069.2:c.-558G>T, NM_014069.2:c.-558T>G, NT_167246.1:g.2455729C=, rs112468750, NT_167247.2:g.2483721C>A, NT_113891.3:g.2621977C>A, NT_167246.2:g.2450109C>A, XM_011547844.1:c.*33A>C, XM_011547844.1:c.*33C>A, NT_167248.1:g.2403206A>C, 114324939, NT_167246.2:g.2450109C=, NT_167248.2:g.2397610A=, rs117539914, rs114324939, NT_167248.1:g.2403206A=, 112468750, NT_167245.1:g.2404499C=, NC_000006.12:g.31139584C>A, NT_167245.2:g.2398914C=, NT_167248.2:g.2397610A>C, NG_021348.1:g.29754=, NC_000006.11:g.31107361=, NG_021348.1:g.29754C>A, NT_167246.1:g.2455729C>A, NC_000006.12:g.31139584=, rs2233945, NT_167247.2:g.2483721C=, NT_113891.3:g.2621977C=, 2233945, NT_113891.2:g.2622083C=, NT_167245.2:g.2398914C>A, NM_014068.2:c.168-57A>C, NM_014068.2:c.168-57C>A, NT_113891.2:g.2622083C>A, NC_000006.11:g.31107361C>A, NC_000006.12:g.31139584C=, NT_167245.1:g.2404499C>A, NT_167247.1:g.2489306C=, NT_167247.1:g.2489306C>A, XM_011547845.1:c.*33A>C, XM_011547845.1:c.*33C>A, 117539914, NG_021348.1:g.29754C=, NC_000006.11:g.31107361C= +PA166201525 rs2233980 PA134866404 C6orf15 NC_000006.12:31111867 1 1 0 0 0 rs2233980, 2233980, 114680685, NC_000006.12:g.31111867G>A, NG_021348.1:g.2037=, NC_000006.11:g.31079644=, NC_000006.11:g.31079644G>A, 112813389, NG_021348.1:g.2037G>A, 148570544, NC_000006.12:g.31111867=, NP_054789.2:p.Pro164= +PA166179835 rs2234649 PA36609 TNFRSF1A NC_000012.12:6342197 1 0 0 0 0 NG_007506.1:g.4899A>C, NC_000012.12:g.6342197T>G, NG_007506.1:g.4899=, 16932522, NC_000012.11:g.6451363T>G, rs2234649, NC_000012.12:g.6342197=, 2234649, NC_000012.11:g.6451363= +PA166154353 rs2234689 PA27478 DRD2 NC_000011.10:113407761 1 0 0 0 0 NC_000011.9:g.113278483G>C, rs58834856, 56639547, NG_008841.1:g.72519C>G, rs2234689, 12805843, 2234689, 4646979, NC_000011.10:g.113407761G>C, 59196715, rs12805843, NG_008841.1:g.72519=, rs56639547, NC_000011.9:g.113278483=, NC_000011.10:g.113407761=, 58834856, rs4646979, rs59196715 +PA166157026 rs2234693 PA156 ESR1 NC_000006.12:151842200 7 3 0 0 0 XM_011535546.1:c.453-397T>C, XM_006715375.2:c.-67-397T>C, NM_001122740.1:c.453-397T>C, XM_011535548.1:c.-67-397T>C, NM_001291241.1:c.453-397T>C, NG_008493.2:g.190510T>C, XM_005266857.1:c.453-397T>C, XM_011535545.1:c.453-397T>C, NC_000006.12:g.151842200T>C, NC_000006.12:g.151842200T>G, XM_011535547.1:c.453-397T>C, NG_008493.2:g.190510T>G, NM_001122741.1:c.453-397T>C, XM_011535544.1:c.453-397T>C, NC_000006.12:g.151842200=, rs4134641, 4134641, NM_001291230.1:c.453-397T>C, XM_011535543.1:c.453-397T>C, NM_001122742.1:c.453-397T>C, 60769286, XM_006715374.2:c.453-397T>C, NG_008493.1:g.156705T>C, NM_000125.3:c.453-397T>C, XM_005266856.1:c.453-397T>C, NC_000006.11:g.152163335=, NC_000006.11:g.152163335T>G, NC_000006.11:g.152163335T>C, rs60769286, NG_008493.2:g.190510=, 2234693, rs2234693 +PA166163378 rs2234711 PA29675 IFNGR1 NC_000006.12:137219383 2 0 0 0 0 NC_000006.11:g.137540520A>G, 61077273, rs2234711, 11541727, NG_007394.1:g.5048=, 2234711, 17181464, NC_000006.11:g.137540520=, 17550899, NC_000006.12:g.137219383=, NC_000006.12:g.137219383A>G, NG_007394.1:g.5048T>C +PA166157746 rs2234753 PA34890 RXRA NC_000009.12:134401915 1 1 0 0 0 rs2234753, XM_005263408.1:c.279+33G>A, NC_000009.12:g.134401915G>A, 2234753, NC_000009.12:g.134401915=, rs2266677, 2266677, 34093403, NM_002957.5:c.279+33G>A, NC_000009.11:g.137293761G>A, NC_000009.11:g.137293761=, XM_005263409.1:c.198+33G>A, rs34093403, 2274451, rs2274451, NM_001291920.1:c.198+33G>A +PA166154003 rs2234767 PA24456,PA36613 ACTA2,FAS NC_000010.11:88989499 1 0 0 0 0 NC_000010.11:g.88989499G>A, XP_011538068.1:p.Ala11Thr, XM_006717819.2:c.31G>A, 2234767, rs2234767, NG_009089.2:g.3969G>A, XM_011539765.1:c.112G>A, NG_011541.1:g.6892C>A, NC_000010.11:g.88989499=, NM_000043.4:c.-1378G>A, NG_011541.1:g.6892=, XM_011539764.1:c.112G>A, NG_009089.2:g.3969G>T, NC_000010.10:g.90749256=, NC_000010.10:g.90749256G>A, NR_028034.2:n.-1032G>A, NR_028033.2:n.-1032G>A, XR_945732.1:n.127G>A, NR_028035.2:n.-1032G>A, NR_028036.2:n.-1032G>A, NG_009089.2:g.3969=, NM_152871.2:c.-1378G>A, NM_152872.2:c.-1378G>A, XM_011539767.1:c.-1639G>A, XP_006717882.1:p.Ala11Thr, NC_000010.10:g.90749256G>T, NC_000010.11:g.88989499G>T, XM_011540016.1:c.-24+1523C>T, XR_945733.1:n.127G>A, NG_011541.1:g.6892C>T, XP_011538067.1:p.Ala38Thr, rs3758482, XP_011538066.1:p.Ala38Thr, 3758482, NM_001141945.1:c.-24+1440C>T, XM_011539766.1:c.31G>A +PA166186023 rs2234916 PA392 KCNE2 NC_000021.9:34370500 1 0 0 0 0 NG_008804.1:g.11477=, NP_751951.1:p.Thr8Ala, NP_751951.1:p.Thr8=, NC_000021.9:g.34370500=, NC_000021.8:g.35742799=, NC_000021.8:g.35742799A>G, 2234916, rs2234916, NG_008804.1:g.11477A>G, NC_000021.9:g.34370500A>G +PA166175997 rs2234918 PA31942 OPRD1 NC_000001.11:28863085 13 1 0 0 0 NC_000001.11:g.28863085C>T, NC_000001.10:g.29189597=, NP_000902.3:p.Gly307=, NC_000001.10:g.29189597C>G, 2234918, 57954899, NC_000001.11:g.28863085=, rs2234918, NC_000001.11:g.28863085C>G, NC_000001.10:g.29189597C>T +PA166153680 rs2234922 PA27829 EPHX1 NC_000001.11:225838705 11 3 0 0 0 NP_000111.1:p.His139Arg, 59975602, NP_001129490.1:p.His139Arg, NC_000001.10:g.226026406=, XM_005273085.1:c.416A>G, NG_009776.1:g.33610A>T, XP_005273142.1:p.His139Arg, NC_000001.11:g.225838705=, rs2234922, NG_009776.1:g.33610A>G, 2234922, NM_000120.3:c.416A>G, NM_001291163.1:c.416A>G, NC_000001.11:g.225838705A>T, NC_000001.10:g.226026406A>T, NP_001278092.1:p.His139Arg, rs59975602, NP_000111.1:p.His139=, NG_009776.1:g.33610=, NC_000001.10:g.226026406A>G, NP_000111.1:p.His139Leu, NM_001136018.3:c.416A>G, NC_000001.11:g.225838705A>G +PA166157335 rs2235013 PA267 ABCB1 NC_000007.14:87549310 2 0 0 0 0 NG_011513.1:g.168939G>A, 2235013, NC_000007.14:g.87549310C>A, NC_000007.14:g.87549310=, rs17276803, rs3789245, 3789245, NC_000007.13:g.87178626=, 58765917, NG_011513.1:g.168939G>T, NC_000007.14:g.87549310C>T, 17276803, NC_000007.13:g.87178626C>A, rs58765917, NM_000927.4:c.1725+38G>A, NG_011513.1:g.168939=, rs2235013, NC_000007.13:g.87178626C>T +PA166157336 rs2235015 PA267 ABCB1 NC_000007.14:87570248 8 1 0 0 0 rs2235015, 2235015, NC_000007.14:g.87570248C>T, NM_000927.4:c.287-25G>T, NC_000007.13:g.87199564=, NC_000007.14:g.87570248C>A, rs59310468, NC_000007.13:g.87199564C>T, NG_011513.1:g.148001G>T, NC_000007.14:g.87570248=, NC_000007.13:g.87199564C>A, 59310468, NG_011513.1:g.148001=, NG_011513.1:g.148001G>A +PA166157337 rs2235033 PA267 ABCB1 NC_000007.14:87549827 1 0 0 0 0 NM_000927.4:c.1554+24T>C, 386562013, rs61486858, NC_000007.13:g.87179143A>G, NC_000007.14:g.87549827A>G, NC_000007.14:g.87549827=, NG_011513.1:g.168422T>C, NG_011513.1:g.168422T>A, NC_000007.13:g.87179143=, rs386562013, rs2235033, NC_000007.14:g.87549827A>T, NC_000007.13:g.87179143A>T, 2235033, 61486858, NG_011513.1:g.168422= +PA166181270 rs2235035 PA267 ABCB1 NC_000007.14:87549770 1 0 0 0 0 60458954, 2235035, 17211093, NC_000007.13:g.87179086G>A, NC_000007.14:g.87549770G>A, 386562014, NC_000007.13:g.87179086=, NG_011513.1:g.168479C>T, NG_011513.1:g.168479=, rs2235035, NC_000007.14:g.87549770= +PA166216101 rs2235036 PA267 ABCB1 NC_000007.14:87545955 1 0 0 0 0 2235036, NG_011513.1:g.172294G>A, NP_000918.2:p.Ala599Thr, rs2235036, NC_000007.13:g.87175271C>T, NC_000007.14:g.87545955C>T, NP_000918.2:p.Ala599=, NC_000007.14:g.87545955=, NC_000007.13:g.87175271=, NG_011513.1:g.172294= +PA166157338 rs2235040 PA267 ABCB1 NC_000007.14:87536434 9 3 0 0 0 NC_000007.13:g.87165750C>T, 60553448, NC_000007.14:g.87536434C>G, rs10383656, 386562018, rs59503449, NG_011513.1:g.181815G>C, NC_000007.14:g.87536434=, NC_000007.14:g.87536434C>A, NC_000007.13:g.87165750=, NG_011513.1:g.181815=, NG_011513.1:g.181815G>A, 59503449, rs60553448, 10383656, NC_000007.14:g.87536434C>T, NC_000007.13:g.87165750C>A, NM_000927.4:c.2481+24G>A, NG_011513.1:g.181815G>T, rs2235040, 2235040, rs386562018, NC_000007.13:g.87165750C>G +PA166157339 rs2235047 PA267 ABCB1 NC_000007.14:87509216 3 1 0 0 0 2235047, rs2235047, NG_011513.1:g.209033T>C, NM_000927.4:c.3489+59T>G, rs58701659, NC_000007.13:g.87138532A>C, NG_011513.1:g.209033T>G, 386562025, NC_000007.14:g.87509216A>G, NC_000007.13:g.87138532A>G, rs56488245, 57169649, rs57169649, 58701659, NC_000007.14:g.87509216A>C, NC_000007.14:g.87509216=, NC_000007.13:g.87138532=, rs386562025, 56488245, NG_011513.1:g.209033= +PA166157340 rs2235048 PA267 ABCB1 NC_000007.14:87509195 4 0 0 0 0 rs2235048, NM_000927.4:c.3489+80C>T, 2235048, 10374918, 17209968, NC_000007.14:g.87509195G>C, NC_000007.13:g.87138511G>C, NG_011513.1:g.209054C>G, rs10374918, NC_000007.13:g.87138511G>A, NC_000007.14:g.87509195G>A, NG_011513.1:g.209054=, rs17209968, rs57118249, NC_000007.13:g.87138511=, NG_011513.1:g.209054C>T, NC_000007.14:g.87509195=, 57118249 +PA166157341 rs2235067 PA267 ABCB1 NC_000007.14:87520606 2 1 0 0 0 NG_011513.1:g.197643=, rs10345072, NG_011513.1:g.197643G>A, rs386562030, NC_000007.14:g.87520606=, 17149713, 57277203, NC_000007.13:g.87149922=, 10345072, NC_000007.14:g.87520606C>T, 386562030, NC_000007.13:g.87149922C>T, NM_000927.4:c.2786+170G>A, rs57277203, rs17149713, 2235067, rs2235067 +PA166153681 rs2235544 PA27337 DIO1 NC_000001.11:53909897 1 0 0 0 0 rs2235544, 2235544, NM_000792.5:c.682-34C>A, NM_213593.3:c.490-34C>A, NG_023306.1:g.20710C>A, XM_005270556.1:c.295-34C>A, NC_000001.10:g.54375570C>A, rs58992405, NM_001039716.1:c.482-34C>A, NC_000001.11:g.53909897=, NG_023306.1:g.20710C>T, NC_000001.11:g.53909897C>T, XM_005270554.1:c.295-34C>A, 58992405, NC_000001.11:g.53909897C>A, NC_000001.10:g.54375570C>T, NM_001039715.1:c.538-34C>A, NC_000001.10:g.54375570=, NG_023306.1:g.20710=, XM_005270555.1:c.295-34C>A +PA166177938 rs2235749 PA33163 PDYN NC_000020.11:1979293 1 0 0 0 0 58930953, NC_000020.11:g.1979293G>A, NC_000020.10:g.1959939G>A, NG_028027.1:g.19953C>T, NC_000020.10:g.1959939=, rs2235749, 2235749, NG_028027.1:g.19953=, NC_000020.11:g.1979293= +PA166177940 rs2235751 PA33163 PDYN NC_000020.11:1989288 1 0 0 0 0 2235751, NC_000020.11:g.1989288=, rs2235751, NG_028027.1:g.9958=, NC_000020.10:g.1969934A>G, NG_028027.1:g.9958T>C, 57596801, NC_000020.11:g.1989288A>G, NC_000020.10:g.1969934= +PA166157868 rs2235800 PA35860 SLC25A14 NC_000023.11:130364862 1 0 0 0 0 NC_000023.11:g.130364862T>A, NC_000023.11:g.130364862T>C, NM_001282197.1:c.803+110T>A, XM_005262488.1:c.614+110T>A, 17305320, XM_005262487.1:c.710+110T>A, XM_005262485.1:c.803+110T>A, NM_003951.2:c.719+110T>A, NG_012850.1:g.29790T>C, XM_011531402.1:c.746+110T>A, NG_012850.2:g.29790=, XR_244526.1:n.787+110T>A, NR_104107.1:n.647+110T>A, XM_005262486.1:c.719+110T>A, NG_012850.1:g.29790T>A, NM_001282198.1:c.614+110T>A, NC_000023.10:g.129498836T>C, 56506222, rs17305320, rs2235800, 2235800, NC_000023.10:g.129498836=, XM_005262489.3:c.416+110T>A, NC_000023.10:g.129498836T>A, NM_001282196.1:c.710+110T>A, NG_012850.2:g.29790T>C, NG_012850.2:g.29790T>A, XR_244527.1:n.897T>A, NM_022810.1:c.710+110T>A, rs56506222, XM_005262489.1:c.416+110T>A, NG_012850.1:g.29790=, NM_001282195.1:c.719+110T>A, NC_000023.11:g.130364862= +PA166155673 rs2236168 PA37404 XDH NC_000002.12:31384262 1 0 0 0 0 NC_000002.12:g.31384262T>C, 2236168, NC_000002.12:g.31384262T>A, XM_011533096.1:c.794-415A>G, NG_008871.2:g.35484A>T, 56579209, NG_008871.2:g.35484=, NG_008871.1:g.35484A>G, 59694787, NC_000002.12:g.31384262=, NC_000002.11:g.31607128T>C, NC_000002.11:g.31607128T>A, XM_011533095.1:c.794-415A>G, rs4325801, 4325801, NG_008871.1:g.35484A>T, rs56579209, NM_000379.3:c.794-415A>G, NG_008871.1:g.35484=, NC_000002.11:g.31607128=, NG_008871.2:g.35484A>G, rs2236168, rs59694787 +PA166155923 rs2236196 PA26490 CHRNA4 NC_000020.11:63346204 6 2 0 0 0 NM_000744.6:c.*534C>T, XM_005260189.1:c.*534C>T, NG_011931.1:g.20140C>G, NC_000020.11:g.63346204=, NR_046317.1:n.2674C>T, NG_011931.1:g.20140C>T, XM_005260191.1:c.*534C>T, XM_005260190.1:c.*534C>T, XM_011528524.1:c.*534C>T, NC_000020.10:g.61977556G>A, NC_000020.10:g.61977556=, rs2236196, NC_000020.11:g.63346204G>A, NM_001256573.1:c.*534C>T, 2236196, NC_000020.11:g.63346204G>C, NC_000020.10:g.61977556G>C, NG_011931.1:g.20140= +PA166154789 rs2236225 PA31236 MTHFD1 NC_000014.9:64442127 17 3 0 0 0 NC_000014.8:g.64908845=, XP_005267750.1:p.Arg709Gln, rs2236225, 2236225, 17850560, rs117048039, XM_005267693.1:c.2126G>A, rs56503831, NC_000014.9:g.64442127G>A, NG_012450.2:g.59087G>A, NP_005947.3:p.Arg653=, NP_005947.3:p.Arg653Gln, NM_005956.3:c.1958G>A, 17751608, 56503831, NG_012450.2:g.59087=, NC_000014.9:g.64442127=, rs17751608, rs58065500, NG_012450.1:g.59087G>A, rs17850560, 117048039, NC_000014.8:g.64908845G>A, rs52810262, NG_012450.1:g.59087=, 52810262, 58065500 +PA166182127 rs2236256 PA164721033,PA31945 IPCEF1,OPRM1 NC_000006.12:154157305 2 1 0 0 0 2236256, NC_000006.11:g.154478440C>A, 57997468, NC_000006.12:g.154157305=, NC_000006.11:g.154478440=, rs2236256, NC_000006.12:g.154157305C>A, NG_021208.2:g.151805=, NG_021208.2:g.151805C>A +PA166182128 rs2236257 PA164721033,PA31945 IPCEF1,OPRM1 NC_000006.12:154157432 1 0 0 0 0 2236257, NC_000006.11:g.154478567=, rs2236257, NC_000006.12:g.154157432G>C, NG_021208.2:g.151932G>C, NG_021208.2:g.151932=, NC_000006.12:g.154157432=, NC_000006.11:g.154478567G>C +PA166182129 rs2236258 PA164721033,PA31945 IPCEF1,OPRM1 NC_000006.12:154157569 1 0 0 0 0 NG_021208.2:g.152069C>G, rs2236258, 2236258, NC_000006.11:g.154478704C>T, NG_021208.2:g.152069C>T, NC_000006.12:g.154157569C>G, NC_000006.12:g.154157569C>T, NC_000006.12:g.154157569=, NC_000006.11:g.154478704=, NG_021208.2:g.152069=, NC_000006.11:g.154478704C>G +PA166182130 rs2236259 PA164721033,PA31945 IPCEF1,OPRM1 NC_000006.12:154157758 1 0 0 0 0 rs2236259, NC_000006.12:g.154157758T>G, 2236259, NC_000006.11:g.154478893=, NC_000006.12:g.154157758T>A, NC_000006.11:g.154478893T>G, NC_000006.12:g.154157758=, NC_000006.12:g.154157758T>C, NG_021208.2:g.152258T>C, NG_021208.2:g.152258=, NG_021208.2:g.152258T>A, NC_000006.11:g.154478893T>A, NC_000006.11:g.154478893T>C, NG_021208.2:g.152258T>G, 17278094 +PA166170292 rs2236416 PA30889 MMP9 NC_000020.11:46011936 1 0 0 0 0 NG_011468.1:g.8029A>G, NC_000020.11:g.46011936=, NG_011468.1:g.8029=, NC_000020.10:g.44640575=, rs2236416, 2236416, NC_000020.11:g.46011936A>G, NC_000020.10:g.44640575A>G +PA166163138 rs2236418 PA28508 GAD2 NC_000010.11:26216567 2 0 0 0 0 rs2236418, 61658815, NC_000010.10:g.26505496A>G, 2236418, 17752431, 17847114, NC_000010.10:g.26505496=, NC_000010.11:g.26216567=, NC_000010.11:g.26216567A>G +PA166185788 rs2236599 PA30138 KLF4 NC_000009.12:107487224 1 0 0 0 0 NC_000009.11:g.110249505C>T, rs2236599, 2236599, NP_001300981.1:p.Gly390=, NC_000009.12:g.107487224=, NC_000009.11:g.110249505=, NC_000009.12:g.107487224C>T, 17789424 +PA166156088 rs2236624 PA24584,PA165378332 ADORA2A,ADORA2A-AS1 NC_000022.11:24440056 4 1 0 0 0 NR_103543.1:n.186-527T>C, NG_052804.1:g.21460T>C, 2236624, rs386562087, rs59907471, rs2236624, NR_028484.2:n.833+1936A>G, NM_001278497.1:c.333-527T>C, NR_028483.2:n.1271-489A>G, NC_000022.10:g.24836024T>C, NC_000022.11:g.24440056=, NC_000022.10:g.24836024=, NM_001278499.1:c.333-527T>C, 59907471, NR_103544.1:n.166-527T>C, NG_052804.1:g.21460=, NM_001278500.1:c.333-527T>C, NC_000022.11:g.24440056T>C, NM_000675.5:c.333-527T>C, 386562087, NM_001278498.1:c.333-527T>C, NR_103546.1:n.4512-527T>C +PA166160163 rs2236647 PA36196 STIP1 NC_000011.10:64197133 1 0 0 0 0 58649232, NC_000011.10:g.64197133=, 17462944, NC_000011.9:g.63964605C>T, rs2236647, 2236647, 59465236, NC_000011.10:g.64197133C>T, NC_000011.9:g.63964605= +PA166160165 rs2236648 PA36196 STIP1 NC_000011.10:64197185 1 0 0 0 0 NC_000011.10:g.64197185C>T, 17572722, 60249851, rs2236648, 2236648, NC_000011.10:g.64197185=, NC_000011.9:g.63964657=, NC_000011.9:g.63964657C>T +PA166154880 rs2236722 PA27091 CYP19A1 NC_000015.10:51242798 1 1 0 0 0 rs2236722, NC_000015.10:g.51242798=, NG_055001.1:g.31A>G, 17703921, 2236722, NP_000094.2:p.Trp39=, XM_005254190.1:c.115T>C, 52795506, XP_005254248.1:p.Trp39Arg, XP_005254247.1:p.Trp39Arg, NG_007982.1:g.100801T>C, XR_932222.1:n.99-35185A>G, NM_031226.2:c.115T>C, NP_000094.2:p.Trp39Arg, NC_000015.10:g.51242798A>G, NC_000015.9:g.51534995A>G, NC_000015.9:g.51534995=, XM_005254191.1:c.115T>C, NP_112503.1:p.Trp39Arg, NM_000103.3:c.115T>C, NG_055001.1:g.31=, XM_005254192.1:c.115T>C, rs57951984, XP_005254249.1:p.Trp39Arg, rs52795506, 57951984, rs17703921, NG_007982.1:g.100801= +PA166184206 rs2236855 PA31942 OPRD1 NC_000001.11:28835487 4 1 0 0 0 117395489, NC_000001.11:g.28835487C>G, NC_000001.10:g.29161999=, 2236855, NC_000001.11:g.28835487C>A, NC_000001.10:g.29161999C>G, rs2236855, 59350502, NC_000001.11:g.28835487=, NC_000001.10:g.29161999C>A +PA166179883 rs2236857 PA31942 OPRD1 NC_000001.11:28835097 7 1 0 0 0 NC_000001.10:g.29161609T>C, rs2236857, 17358449, 2236857, NC_000001.11:g.28835097=, NC_000001.11:g.28835097T>C, NC_000001.10:g.29161609=, 60629338, 386562093 +PA166153682 rs2236861 PA31942 OPRD1 NC_000001.11:28813244 4 2 0 0 0 NM_000911.3:c.227+634G>A, 2236861, NC_000001.11:g.28813244G>A, 59557379, NC_000001.11:g.28813244=, rs117174994, rs59557379, NC_000001.10:g.29139756G>A, 117174994, NC_000001.10:g.29139756=, rs2236861 +PA166180901 rs2236947 PA34245 RASSF1 NC_000003.12:50334001 1 1 0 0 0 56472589, NC_000003.12:g.50334001C>A, NC_000003.11:g.50371432C>A, 2236947, rs2236947, 58191021, NG_023270.1:g.11936G>T, NC_000003.12:g.50334001=, NC_000003.11:g.50371432=, NG_023270.1:g.11936= +PA166179500 rs2237435 PA29877 INHBA NC_000007.14:41691455 1 0 0 0 0 2237435, 58198751, NC_000007.14:g.41691455=, rs2237435, NC_000007.13:g.41731053A>C, NC_000007.14:g.41691455A>C, NC_000007.13:g.41731053=, 17776110, 10381870 +PA166157342 rs2237558 PA28992 GRM3 NC_000007.14:86764220 1 0 0 0 0 rs2237558, rs60644010, 2237558, XM_005250289.1:c.101-74619G>A, rs61406302, XM_005250288.1:c.-926G>A, XM_011516089.1:c.-140-786G>A, XM_011516088.1:c.-140-786G>A, NC_000007.13:g.86393536G>A, XM_005250287.1:c.85-22041G>A, XM_005250290.1:c.-926G>A, 60644010, NC_000007.14:g.86764220=, XM_011516090.1:c.-140-786G>A, NC_000007.13:g.86393536=, XM_005250286.1:c.-926G>A, NC_000007.14:g.86764220G>A, 61406302, NM_000840.2:c.-140-786G>A +PA166157343 rs2237562 PA28992 GRM3 NC_000007.14:86792916 1 0 0 0 0 NC_000007.14:g.86792916T>C, XM_005250289.1:c.101-45923T>C, XM_005250290.1:c.1324+5800T>C, XR_927721.1:n.1425+271A>G, XM_011516089.1:c.1324+5800T>C, NC_000007.14:g.86792916=, XM_005250286.1:c.1324+5800T>C, NC_000007.13:g.86422232=, NM_000840.2:c.1324+5800T>C, XM_005250288.1:c.1324+5800T>C, rs57635632, XM_011516088.1:c.1324+5800T>C, XM_011516090.1:c.1324+5800T>C, NC_000007.13:g.86422232T>C, XM_005250287.1:c.940+5800T>C, 57635632, rs2237562, 2237562 +PA166252923 rs2237628 PA34323 RELN NC_000007.14:103581859 1 0 0 0 0 NG_011877.2:g.412658A>G, NC_000007.14:g.103581859T>C, rs2237628, NC_000007.13:g.103222306=, 60198662, NC_000007.14:g.103581859=, 2237628, NC_000007.13:g.103222306T>C, NG_011877.2:g.412658=, 56470893 +PA166157344 rs2237717 PA30763 MET NC_000007.14:116765333 1 0 0 0 0 rs10360329, XM_011516223.1:c.2640+2065T>C, 60573720, rs56649045, NG_008996.1:g.97929=, rs2237717, NG_008996.1:g.97929T>C, 2237717, XM_006715990.2:c.1293+2065T>C, NC_000007.14:g.116765333T>C, rs60573720, NM_000245.2:c.2583+2065T>C, 10360329, XM_006715991.2:c.1293+2065T>C, NC_000007.13:g.116405387=, XM_005250353.1:c.2694+2065T>C, NC_000007.13:g.116405387T>C, NM_001127500.1:c.2637+2065T>C, 56649045, XM_005250354.1:c.1293+2065T>C, NC_000007.14:g.116765333= +PA166154354 rs2237892 PA223 KCNQ1 NC_000011.10:2818521 4 1 0 0 0 rs59446512, NR_040711.2:n.1688-29246C>T, NC_000011.9:g.2839751=, NM_000218.2:c.1795-29246C>T, NC_000011.10:g.2818521=, NC_000011.9:g.2839751C>T, NC_000011.10:g.2818521C>T, NT_187585.1:g.50708C>T, NG_008935.1:g.378531=, NG_008935.1:g.378531C>T, NM_181798.1:c.1414-29246C>T, 59446512, rs2237892, 2237892 +PA166154355 rs2237895 PA223 KCNQ1 NC_000011.10:2835964 5 2 0 0 0 2237895, NM_181798.1:c.1414-11803A>C, NC_000011.9:g.2857194A>C, NG_008935.1:g.395974A>T, NC_000011.10:g.2835964A>C, NC_000011.9:g.2857194=, NR_040711.2:n.1688-11803A>C, NM_000218.2:c.1795-11803A>C, NG_008935.1:g.395974A>C, NC_000011.9:g.2857194A>T, NG_008935.1:g.395974=, rs2237895, NC_000011.10:g.2835964A>T, NT_187585.1:g.68142A>C, NC_000011.10:g.2835964= +PA166154356 rs2237897 PA223 KCNQ1 NC_000011.10:2837316 2 0 0 0 0 NT_187585.1:g.69495C>T, 2237897, NC_000011.10:g.2837316=, NG_008935.1:g.397326=, rs2237897, NR_040711.2:n.1688-10451C>T, NG_008935.1:g.397326C>T, NC_000011.9:g.2858546=, NC_000011.10:g.2837316C>T, NC_000011.9:g.2858546C>T, NM_000218.2:c.1795-10451C>T, NM_181798.1:c.1414-10451C>T +PA166176403 rs2237991 PA24395 ABCC8 NC_000011.10:17418682 1 0 0 0 0 NC_000011.10:g.17418682A>G, NG_008867.1:g.63221=, NC_000011.9:g.17440229=, NC_000011.10:g.17418682=, 59856470, NG_008867.1:g.63221T>C, rs2237991, 2237991, NC_000011.9:g.17440229A>G +PA166154533 rs2238032 PA83 CACNA1C NC_000012.12:2113566 4 1 0 0 0 NM_199460.3:c.50-1658T>G, XM_011521020.1:c.140-1658T>G, NC_000012.11:g.2222732T>C, NM_001167623.1:c.50-1658T>G, NC_000012.11:g.2222732T>G, NM_001129843.1:c.50-1658T>G, XM_011521018.1:c.-1069-1658T>G, NM_001129827.1:c.50-1658T>G, NM_001129834.1:c.50-1658T>G, XM_006719017.1:c.140-1658T>G, XM_011521022.1:c.50-1658T>G, XM_005253784.1:c.50-1658T>G, XM_005253772.1:c.50-1658T>G, NM_001129831.1:c.50-1658T>G, XM_005253777.1:c.50-1658T>G, NM_001129830.2:c.50-1658T>G, XM_005253781.1:c.50-1658T>G, XM_005253768.1:c.50-1658T>G, NM_001129839.1:c.50-1658T>G, NM_001129832.1:c.50-1658T>G, NM_001167625.1:c.50-1658T>G, NC_000012.12:g.2113566T>C, XM_005253778.1:c.50-1658T>G, NC_000012.12:g.2113566T>G, NM_001129829.1:c.50-1658T>G, NM_000719.6:c.50-1658T>G, XM_005253782.1:c.50-1658T>G, NM_001129833.1:c.50-1658T>G, XM_005253765.1:c.140-1658T>G, XM_005253770.1:c.50-1658T>G, NM_001167624.2:c.50-1658T>G, NM_001129846.1:c.50-1658T>G, XM_011521023.1:c.50-1658T>G, XM_005253779.1:c.50-1658T>G, rs2238032, XM_005253766.1:c.50-1658T>G, XM_005253783.1:c.50-1658T>G, NG_008801.2:g.147781T>C, XM_005253771.1:c.50-1658T>G, NM_001129830.1:c.50-1658T>G, XM_005253776.1:c.50-1658T>G, NM_001129842.1:c.50-1658T>G, XM_005253767.1:c.50-1658T>G, XM_005253780.1:c.50-1658T>G, NG_008801.2:g.147781T>G, NM_001129838.1:c.50-1658T>G, XM_011521021.1:c.50-1658T>G, NM_001129844.1:c.50-1658T>G, NM_001129835.1:c.50-1658T>G, NC_000012.12:g.2113566=, XM_005253785.1:c.50-1658T>G, NM_001129840.1:c.50-1658T>G, XM_005253786.1:c.50-1658T>G, XM_005253773.1:c.50-1658T>G, NM_001129836.1:c.50-1658T>G, XM_005253769.1:c.50-1658T>G, NG_008801.2:g.147781=, XM_005253775.1:c.50-1658T>G, 2238032, XM_005253774.1:c.50-1658T>G, NM_001129841.1:c.50-1658T>G, XM_005253787.1:c.50-1658T>G, NM_001129837.1:c.50-1658T>G, NC_000012.11:g.2222732= +PA166181108 rs2238087 PA83 CACNA1C NC_000012.12:2504550 1 0 0 0 0 NC_000012.12:g.2504550=, NG_008801.2:g.538765C>T, NC_000012.12:g.2504550C>G, 2238087, NC_000012.11:g.2613716=, NC_000012.11:g.2613716C>G, NG_008801.2:g.538765C>G, rs2238087, NC_000012.12:g.2504550C>T, NC_000012.11:g.2613716C>T, NG_008801.2:g.538765= +PA166155033 rs2238472 PA58 ABCC6 NC_000016.10:16157742 1 1 0 0 0 NG_007558.2:g.70730G=, XM_011522480.1:c.3461G>A, XP_011544999.1:p.Gln1154Arg, XM_011522481.1:c.3461G>A, 527236052, XR_932838.1:n.3839G=, XM_011522479.1:c.3770G>A, XR_951922.1:n.-1847C>T, NG_007558.2:g.70730=, XP_011544998.1:p.Gln1154=, XR_951902.1:n.3836A=, rs52824827, NP_001162.4:p.Arg1268=, XP_011520782.1:p.Arg1154Gln, XR_951903.1:n.3837A>G, rs527236052, NG_007558.2:g.70730G>A, XM_011522479.1:c.3770G=, NC_000016.10:g.16157742=, XR_951923.1:n.539-2038C>T, NT_187607.1:g.1815671T>C, 386562149, rs17289934, XR_933133.1:n.-1848C>T, NC_000016.9:g.16251599C>T, 117535034, XR_951902.1:n.3836A>G, XP_011544998.1:p.Gln1154Arg, XR_951901.1:n.4036A=, 60072648, rs2238472, XR_933134.1:n.539-2039T>C, XR_951901.1:n.4036A>G, XR_243279.1:n.4220G>A, XR_951903.1:n.3837A=, NM_001171.5:c.3803G>A, XR_932837.1:n.3839G>A, XR_932838.1:n.3839G>A, XR_951922.1:n.-1847T>C, rs117535034, NT_187607.1:g.1815671T=, XP_011520783.1:p.Arg1154Gln, NP_001162.4:p.Arg1268Gln, XP_011544999.1:p.Gln1154=, XR_932836.1:n.4038G=, NC_000016.9:g.16251599=, XP_011520781.1:p.Arg1257=, XP_011520782.1:p.Arg1154=, 52824827, XM_011546697.1:c.3461A=, XR_951923.1:n.539-2038T>C, XM_011546696.1:c.3461A>G, XP_011520781.1:p.Arg1257Gln, XM_011522481.1:c.3461G=, XP_011520783.1:p.Arg1154=, XR_932836.1:n.4038G>A, XR_933133.1:n.-1848T>C, rs60072648, NM_001171.5:c.3803G=, XR_932837.1:n.3839G=, NC_000016.10:g.16157742C=, 2238472, XR_933134.1:n.539-2039C>T, XM_011546696.1:c.3461A=, XM_011522480.1:c.3461G=, NC_000016.10:g.16157742C>T, rs386562149, XM_011546697.1:c.3461A>G, 17289934 +PA166155034 rs2238476 PA244 ABCC1 NC_000016.10:16120015 3 1 0 0 0 XM_005255329.1:c.3214-1960G>A, NG_028268.2:g.175439=, NG_028268.2:g.175439G>A, XM_011522497.1:c.3367-1960G>A, NT_187607.1:g.1777880G>A, NM_004996.3:c.3391-1960G>A, NG_028268.1:g.175439=, NC_000016.9:g.16213872G>A, 59331160, XM_005255327.1:c.3265-1960G>A, XM_005255328.1:c.3253-1960G>A, XM_011522498.1:c.3298-1960G>A, XM_005255326.1:c.3421-1960G>A, NC_000016.9:g.16213872=, NC_000016.10:g.16120015G>A, NG_028268.1:g.175439G>A, 2238476, rs2238476, rs59331160, NC_000016.10:g.16120015= +PA166154534 rs2239050 PA83 CACNA1C NC_000012.12:2338248 5 2 0 0 0 XM_005253768.1:c.487-110728G>C, XM_011521021.1:c.478-110728G>C, NM_001129843.1:c.478-110728G>C, NG_008801.2:g.372463=, NM_001129830.1:c.478-110728G>C, NC_000012.11:g.2447414G>A, NC_000012.11:g.2447414G>C, XM_005253775.1:c.487-110728G>C, XM_005253770.1:c.487-110728G>C, NM_001129829.1:c.478-110728G>C, NM_001129836.1:c.478-110728G>C, rs56640547, NM_001129831.1:c.478-110728G>C, XM_005253782.1:c.487-110728G>C, XM_005253783.1:c.487-110728G>C, NM_001129844.1:c.478-110728G>C, XM_005253776.1:c.487-110728G>C, XM_005253769.1:c.487-110728G>C, XM_011521018.1:c.-641-110728G>C, NM_199460.3:c.478-110728G>C, 57375424, 56640547, XM_005253784.1:c.487-110728G>C, NC_000012.12:g.2338248G>A, NC_000012.12:g.2338248G>C, NM_001129834.1:c.478-110728G>C, NM_001129830.2:c.478-110728G>C, NM_001167624.2:c.478-110728G>C, NM_001129835.1:c.478-110728G>C, XM_005253774.1:c.487-110728G>C, NM_001129833.1:c.478-110728G>C, XM_005253765.1:c.568-110728G>C, NM_001129840.1:c.478-110728G>C, rs57375424, NM_001167623.1:c.478-110728G>C, XM_005253785.1:c.487-110728G>C, NG_008801.2:g.372463G>C, XM_005253772.1:c.487-110728G>C, XM_011521020.1:c.568-110728G>C, XM_005253780.1:c.487-110728G>C, NG_008801.2:g.372463G>A, NM_001129846.1:c.478-110728G>C, XM_005253778.1:c.487-110728G>C, NM_001129839.1:c.478-110728G>C, NM_001129841.1:c.478-110728G>C, XM_005253766.1:c.487-110728G>C, XM_011521023.1:c.478-110728G>C, XM_005253773.1:c.487-110728G>C, XM_005253779.1:c.487-110728G>C, XM_005253786.1:c.487-110728G>C, 2239050, rs2239050, NC_000012.11:g.2447414=, XM_005253771.1:c.487-110728G>C, NM_001129837.1:c.478-110728G>C, XM_006719017.1:c.568-110728G>C, NM_001129827.1:c.478-110728G>C, NM_001167625.1:c.478-110728G>C, NC_000012.12:g.2338248=, NM_001129838.1:c.478-110728G>C, XM_011521022.1:c.478-110728G>C, NM_001129842.1:c.478-110728G>C, XM_005253777.1:c.487-110728G>C, XM_005253767.1:c.487-110728G>C, XM_005253787.1:c.487-110728G>C, NM_000719.6:c.478-110728G>C, NM_001129832.1:c.478-110728G>C, XM_005253781.1:c.487-110728G>C +PA166154535 rs2239128 PA83 CACNA1C NC_000012.12:2648603 6 2 0 0 0 NM_001129831.1:c.4029+96T>C, NM_001129844.1:c.3936+96T>C, XM_005253765.1:c.4239+96T>C, XM_011521019.1:c.744+96T>C, XM_011521021.1:c.3945+96T>C, NM_001129833.1:c.3945+96T>C, XM_011521023.1:c.4020+96T>C, NM_001129839.1:c.3907-3037T>C, XM_005253781.1:c.3954+96T>C, NG_008801.2:g.682818T>A, NG_008801.2:g.682818T>C, NM_001129842.1:c.3945+96T>C, XM_011521017.1:c.3189+96T>C, NM_001129829.1:c.3945+96T>C, XM_005253768.1:c.4098+96T>C, XM_005253784.1:c.3954+96T>C, NC_000012.12:g.2648603T>A, NC_000012.12:g.2648603T>C, NM_001129832.1:c.4005+96T>C, 58064366, NM_000719.6:c.3945+96T>C, XM_005253772.1:c.4038+96T>C, XM_006719017.1:c.4035+96T>C, NM_001167624.2:c.3945+96T>C, XM_005253783.1:c.3954+96T>C, NC_000012.11:g.2757769T>C, rs2239128, NC_000012.11:g.2757769T>A, XM_005253770.1:c.3954+96T>C, NC_000012.12:g.2648603=, NM_001167625.1:c.3913-3037T>C, XM_005253778.1:c.3922-3037T>C, NM_001129827.1:c.4089+96T>C, NM_001129843.1:c.3945+96T>C, NM_001129830.1:c.3945+96T>C, XM_005253782.1:c.3954+96T>C, NM_001167623.1:c.3945+96T>C, XM_005253766.1:c.4098+96T>C, XM_005253780.1:c.3916-3037T>C, NM_001129830.2:c.3945+96T>C, NM_001129837.1:c.3913-3037T>C, XM_005253769.1:c.3954+96T>C, XM_005253785.1:c.3954+96T>C, NM_001129834.1:c.3945+96T>C, XM_011521022.1:c.3945+96T>C, NG_008801.2:g.682818=, rs58064366, NM_001129838.1:c.3913-3037T>C, XM_005253771.1:c.3954+96T>C, XM_005253776.1:c.3954+96T>C, XM_005253767.1:c.3922-3037T>C, NM_001129836.1:c.3997-3037T>C, NC_000012.11:g.2757769=, NM_001129841.1:c.3945+96T>C, XM_005253788.1:c.1851+96T>C, XM_005253779.1:c.3922-3037T>C, 2239128, XM_005253787.1:c.3922-3037T>C, XM_005253775.1:c.3954+96T>C, NM_001129840.1:c.3945+96T>C, XM_005253786.1:c.3945+96T>C, NM_001129846.1:c.3913-3037T>C, NM_001129835.1:c.3945+96T>C, XM_005253773.1:c.4014+96T>C, XM_005253774.1:c.3954+96T>C, XM_011521018.1:c.2634+96T>C, NM_199460.3:c.4089+96T>C, XM_005253777.1:c.4006-3037T>C, XM_011521020.1:c.4110+96T>C +PA166154536 rs2239179 PA37301 VDR NC_000012.12:47863983 1 1 0 0 0 XM_006719587.2:c.277+1064A>G, NG_008731.1:g.46049A>G, NM_001017535.1:c.277+1064A>G, 386562166, rs58094619, NM_001017536.1:c.427+1064A>G, 58094619, NM_000376.2:c.277+1064A>G, NC_000012.12:g.47863983=, NG_008731.1:g.46049=, NC_000012.12:g.47863983T>C, rs386562166, NC_000012.11:g.48257766=, NC_000012.11:g.48257766T>C, XM_011538720.1:c.277+1064A>G, 2239179, rs2239179 +PA166154537 rs2239185 PA37301 VDR NC_000012.12:47850776 1 0 0 0 0 NM_001017535.1:c.756-3968C>T, XM_011538720.1:c.756-3968C>T, 386562169, 57490981, NM_001017536.1:c.906-3968C>T, 17721547, XR_944903.1:n.329-1369G>A, NC_000012.12:g.47850776G>A, NC_000012.11:g.48244559=, NC_000012.12:g.47850776=, rs2239185, rs57490981, rs386562169, NG_008731.1:g.59256C>T, NM_000376.2:c.756-3968C>T, 2239185, NG_008731.1:g.59256=, rs17721547, NC_000012.11:g.48244559G>A, XM_006719587.2:c.756-3968C>T +PA166155035 rs2239347 PA29832 IL4R NC_000016.10:27347700 1 1 0 0 0 XM_005255307.1:c.216+2680A>C, XM_011545826.1:c.513+1082A>C, XM_011545829.1:c.216+2680A>C, XM_011545830.1:c.216+2680A>C, XM_011545833.1:c.216+2680A>C, NM_001257997.1:c.38+1082A>C, NM_001257407.1:c.468+1082A>C, NC_000016.9:g.27359021=, XM_005255309.1:c.693+1082A>C, XM_011545831.1:c.216+2680A>C, XM_005255306.1:c.588+1082A>C, NM_001257406.1:c.513+1082A>C, NG_012086.1:g.38771A>C, NC_000016.9:g.27359021A>C, XM_011545825.1:c.513+1082A>C, XM_005255305.1:c.693+1082A>C, NM_000418.3:c.513+1082A>C, 2239347, NC_000016.10:g.27347700=, XR_243278.1:n.712+1082A>C, XM_011545832.1:c.216+2680A>C, XM_011545827.1:c.513+1082A>C, XM_011545834.1:c.90+2680A>C, NG_012086.1:g.38771=, NC_000016.10:g.27347700A>C, XM_011545828.1:c.246+1082A>C, rs2239347 +PA166156089 rs2239393 PA117 COMT NC_000022.11:19962905 3 0 0 0 0 rs58361251, XM_011529891.1:c.289+90A>G, XM_011529888.1:c.289+90A>G, XM_011529889.1:c.289+90A>G, XM_011529890.1:c.289+90A>G, NR_039918.1:n.-848A>G, NG_011526.1:g.26166=, NG_011526.1:g.26166A>G, NM_001135161.1:c.289+90A>G, NC_000022.10:g.19950428A>G, NM_001135162.1:c.289+90A>G, NM_007310.2:c.139+90A>G, 58361251, NC_000022.11:g.19962905=, NM_000754.3:c.289+90A>G, 2239393, rs2239393, XM_005261229.1:c.289+90A>G, NC_000022.10:g.19950428=, NC_000022.11:g.19962905A>G, XM_011529887.1:c.289+90A>G, XM_011529885.1:c.403+90A>G, XM_011529886.1:c.403+90A>G +PA166157869 rs2239483 PA35860 SLC25A14 NC_000023.11:130343477 1 0 0 0 0 NC_000023.11:g.130343477A>G, NG_012850.2:g.8405=, XM_005262489.1:c.14+3501A>G, NG_012850.1:g.8405=, NM_001282196.1:c.67-1705A>G, NM_022810.1:c.67-1705A>G, NG_012850.2:g.8405A>G, XM_005262489.3:c.14+3501A>G, NC_000023.10:g.129477451=, XM_005262488.1:c.-30-1705A>G, NM_003951.2:c.76-1705A>G, XR_244526.1:n.230-1705A>G, XM_011531402.1:c.103-1705A>G, XR_244527.1:n.230-1705A>G, NC_000023.11:g.130343477=, XM_005262485.1:c.160-1705A>G, XM_011531403.1:c.-30-1705A>G, NR_104107.1:n.90-1705A>G, XM_005262486.1:c.76-1705A>G, XM_005262487.1:c.67-1705A>G, NG_012850.1:g.8405A>G, NC_000023.10:g.129477451A>G, XM_011531405.1:c.-30-1705A>G, 2239483, rs2239483, NM_001282198.1:c.-30-1705A>G, NM_001282195.1:c.76-1705A>G, NM_001282197.1:c.67-1705A>G, XM_011531404.1:c.67-1705A>G +PA166153683 rs2239622 PA162397475 NGF NC_000001.11:115295088 2 1 0 0 0 NC_000001.10:g.115837709A>T, NG_007944.1:g.48149=, rs386562190, NC_000001.10:g.115837709A>G, 52798500, rs61270451, XM_006710665.2:c.-136-1338T>C, NM_002506.2:c.-136-1338T>C, NC_000001.11:g.115295088=, rs11564885, rs52798500, 386562190, XM_006710663.2:c.-12-8281T>C, 61270451, rs17033636, 2239622, NC_000001.10:g.115837709=, XM_011541518.1:c.30-1338T>C, 11564885, 17033636, NC_000001.11:g.115295088A>T, NG_007944.1:g.48149T>A, rs2239622, NC_000001.11:g.115295088A>G, NG_007944.1:g.48149T>C +PA166156547 rs2239702 PA30086 KDR NC_000004.12:55125972 2 1 0 0 0 NG_012004.1:g.4624G>A, 2239702, rs2239702, NC_000004.11:g.55992139=, NM_002253.2:c.-679G>A, NC_000004.11:g.55992139C>T, NG_012004.1:g.4624=, NC_000004.12:g.55125972C>T, NC_000004.12:g.55125972= +PA166155202 rs2240017 PA36362 TBX21 NC_000017.11:47733553 1 1 0 0 0 NC_000017.11:g.47733553=, rs2240017, NC_000017.10:g.45810919C>G, 2240017, NC_000017.10:g.45810919=, NP_037483.1:p.His33Gln, NC_000017.11:g.47733553C>G, NP_037483.1:p.His33=, NG_012166.1:g.5310=, NG_012166.1:g.5310C>G, XP_011523000.1:p.His33Gln, XM_011524698.1:c.99C>G, NM_013351.1:c.99C>G +PA166232245 rs2240158 PA28984 GRIN3B NC_000019.10:1005231 1 0 0 0 0 NC_000019.9:g.1005230C>T, 2240158, rs2240158, 59419679, NP_619635.1:p.Thr577=, NP_619635.1:p.Thr577Met, NC_000019.10:g.1005231=, NC_000019.9:g.1005230=, NC_000019.10:g.1005231C>T +PA166153684 rs2240340 PA32903 PADI4 NC_000001.11:17336144 1 0 0 0 0 NC_000001.10:g.17662639T>G, NG_023261.2:g.32955T>G, NG_023261.2:g.32955T>A, NC_000001.10:g.17662639T>C, NG_023261.2:g.32955T>C, XM_011548842.1:c.341-15T>C, NC_000001.10:g.17662639T>A, NG_023261.1:g.32950T>C, 2240340, rs2240340, NC_000001.10:g.17662639=, NM_012387.2:c.341-15T>C, XM_011541150.1:c.340+2135T>C, XM_011541157.1:c.-372-15T>C, XM_011548841.1:c.341-15T>C, rs17475085, XM_011541154.1:c.341-15T>C, XM_011548844.1:c.-372-15T>C, NG_023261.2:g.32955=, XM_011541156.1:c.341-15T>C, XM_011548837.1:c.340+2135T>C, XM_011548843.1:c.341-15T>C, XM_011541151.1:c.341-15T>C, rs17860497, XM_011548839.1:c.-79-15T>C, NC_000001.11:g.17336144T>G, 17860497, 57588012, NC_000001.11:g.17336144T>C, 17475085, NC_000001.11:g.17336144T>A, XM_011548838.1:c.341-15T>C, XM_011541153.1:c.341-15T>C, rs57588012, NC_000001.11:g.17336144=, NW_011332688.1:g.181367T>C, XM_011541155.1:c.341-15T>C, XM_011541152.1:c.-79-15T>C, XM_011548840.1:c.341-15T>C +PA166154004 rs2241529 PA27345 DKK1 NC_000010.11:52314997 1 0 0 0 0 rs2241529, NC_000010.11:g.52314997A>G, 2241529, NC_000010.10:g.54074757A>G, NP_036374.1:p.Ala106=, NC_000010.10:g.54074757=, NC_000010.11:g.52314997=, NC_000010.10:g.54074757A>T, NC_000010.11:g.52314997A>T, NR_038277.1:n.-869T>C, NM_012242.2:c.318A>G, NC_000010.11:g.52314997A>C, NC_000010.10:g.54074757A>C +PA166181258 rs2241716 PA350 TGFB1 NC_000019.10:41348181 1 0 0 0 0 rs2241716, 56636763, 2241716, NC_000019.10:g.41348181=, 56762031, NC_000019.9:g.41854086=, NG_013364.1:g.10746G>A, NC_000019.9:g.41854086C>T, NC_000019.10:g.41348181C>T, NG_013364.1:g.10746= +PA166156347 rs2241766 PA134933118 ADIPOQ NC_000003.12:186853103 2 1 0 0 0 NC_000003.12:g.186853103T>C, NC_000003.12:g.186853103T>A, NC_000003.12:g.186853103T>G, rs36219441, NC_000003.11:g.186570892T>G, NP_004788.1:p.Gly15=, XP_011511626.1:p.Gly15=, NC_000003.12:g.186853103=, NC_000003.11:g.186570892T>A, NC_000003.11:g.186570892T>C, NM_001177800.1:c.45T>G, NG_044949.1:g.13194=, NC_000003.11:g.186570892=, NG_044949.1:g.13194T>A, NM_004797.3:c.45T>G, NG_044949.1:g.13194T>C, NG_044949.1:g.13194T>G, NG_021140.1:g.15430=, XM_011513324.1:c.45T>G, rs2241766, 2241766, NP_001171271.1:p.Gly15=, NR_046662.1:n.2226A>C, rs17846867, NG_021140.1:g.15430T>G, 17846867, 36219441, NG_021140.1:g.15430T>C, NG_021140.1:g.15430T>A +PA166156348 rs2241767 PA134933118 ADIPOQ NC_000003.12:186853407 1 0 0 0 0 rs56622750, rs2241767, 28973163, 2241767, 59775053, NG_021140.1:g.15734A>T, NG_021140.1:g.15734=, NC_000003.12:g.186853407A>T, NG_021140.1:g.15734A>G, NC_000003.11:g.186571196A>T, NC_000003.11:g.186571196=, rs28973163, NC_000003.12:g.186853407=, rs59775053, 56622750, NM_004797.3:c.214+135A>G, XM_011513324.1:c.214+135A>G, NR_046662.1:n.2087-165T>C, NM_001177800.1:c.214+135A>G, NC_000003.11:g.186571196A>G, NC_000003.12:g.186853407A>G +PA166176378 rs2241842 PA25305 BCL2L11 NC_000002.12:111121838 1 0 0 0 0 2241842, NC_000002.11:g.111879415=, rs2241842, NC_000002.12:g.111121838=, NG_029006.1:g.5925A>G, NC_000002.12:g.111121838A>G, NC_000002.11:g.111879415A>G, NG_029006.1:g.5925= +PA166176351 rs2241843 PA25305 BCL2L11 NC_000002.12:111121804 2 1 0 0 0 NC_000002.11:g.111879381=, NC_000002.11:g.111879381C>A, rs2241843, 2241843, NG_029006.1:g.5891C>G, NC_000002.11:g.111879381C>G, NC_000002.12:g.111121804=, NG_029006.1:g.5891C>A, NC_000002.12:g.111121804C>T, NC_000002.12:g.111121804C>A, NC_000002.11:g.111879381C>T, NC_000002.12:g.111121804C>G, NG_029006.1:g.5891C>T, NG_029006.1:g.5891= +PA166308301 rs2241880 PA134902949,PA144596365 ATG16L1,SCARNA5 NC_000002.12:233274722 1 0 0 0 0 NC_000002.12:g.233274722=, NP_110430.5:p.Thr300=, NC_000002.11:g.234183368=, NG_023038.1:g.28152=, NC_000002.12:g.233274722A>G, rs2241880, 2241880, NP_110430.5:p.Thr300Ala, 57853061, 17607702, NC_000002.11:g.234183368A>G, 52836811, NG_023038.1:g.28152A>G +PA166155674 rs2241883 PA27956 FABP1 NC_000002.12:88124547 3 1 0 0 0 NC_000002.11:g.88424066T>C, NC_000002.12:g.88124547=, NP_001434.1:p.Thr94Ala, 59305633, NP_001434.1:p.Thr94=, NC_000002.11:g.88424066=, NC_000002.12:g.88124547T>C, NM_001443.2:c.280A>G, rs2241883, rs59305633, 2241883 +PA166154881 rs2242046 PA387 SLC28A1 NC_000015.10:84935498 3 1 0 0 0 XP_011520509.1:p.Asp521Asn, XM_005254991.1:c.1561G>A, XM_011522209.1:c.1483G>A, XP_011520512.1:p.Asp521Asn, XR_931944.1:n.1636G>A, 2242046, XM_011522217.1:c.1084-7947G>A, 17216003, rs2242046, NP_001274691.1:p.Asp521Asn, NC_000015.10:g.84935498=, NC_000015.9:g.85478729G>A, XM_011522215.1:c.1084-7947G>A, XP_005255048.1:p.Asp521Asn, XP_011520505.1:p.Asp521Asn, XM_005254990.1:c.1561G>A, NP_004204.3:p.Asp521Asn, NM_001287762.1:c.1561G>A, XP_011520513.1:p.Asp443Asn, XP_011520516.1:p.Asp521Asn, XP_011520510.1:p.Asp512Asn, XP_011520511.1:p.Asp495Asn, NM_004213.4:c.1561G>A, rs17609392, XM_005254988.1:c.1561G>A, XM_005254989.1:c.1561G>A, XP_011520506.1:p.Asp521Asn, XP_005255047.1:p.Asp521Asn, NC_000015.9:g.85478729=, rs57854627, XP_005255049.1:p.Asp512Asn, 57854627, rs17216003, XM_005254992.1:c.1534G>A, XP_005255050.1:p.Asp495Asn, rs386562296, XM_005254993.1:c.1483G>A, XP_011520515.1:p.Asp521Asn, XP_011520514.1:p.Asp521Asn, XM_011522207.1:c.1561G>A, XM_011522206.1:c.1561G>A, XP_011520507.1:p.Asp521Asn, XM_011522211.1:c.1327G>A, NP_004204.3:p.Asp521=, XM_011522216.1:c.1327G>A, NC_000015.10:g.84935498G>A, 386562296, XP_011520518.1:p.Asp443Asn, XP_005255046.1:p.Asp521Asn, 17609392, XM_005254995.1:c.1084-7947G>A, XM_011522210.1:c.1561G>A, XP_011520508.1:p.Asp521Asn, XM_011522204.1:c.1561G>A, NC_000015.10:g.84935498G>T, XM_011522205.1:c.1561G>A, NM_001287761.1:c.1084-7947G>A, NP_004204.3:p.Asp521Tyr, XM_011522208.1:c.1534G>A, XM_005254994.1:c.1327G>A, XM_011522214.1:c.1561G>A, XP_005255051.1:p.Asp443Asn, XM_011522203.1:c.1561G>A, XM_011522213.1:c.1561G>A, NC_000015.9:g.85478729G>T, XM_011522212.1:c.1561G>A, XP_005255045.1:p.Asp521Asn +PA166154882 rs2242047 PA387 SLC28A1 NC_000015.10:84935465 3 0 0 0 0 XP_005255049.1:p.Arg501Cys, XP_005255050.1:p.Arg484Cys, 56742164, rs2242047, 2242047, XM_011522212.1:c.1528C>T, XP_005255045.1:p.Arg510Cys, XP_011520514.1:p.Arg510Cys, 17222400, XP_011520506.1:p.Arg510Cys, XM_011522210.1:c.1528C>T, NP_004204.3:p.Arg510=, NM_004213.4:c.1528C>T, XP_011520511.1:p.Arg484Cys, XM_005254992.1:c.1501C>T, NC_000015.10:g.84935465C>T, XM_011522211.1:c.1294C>T, XP_011520516.1:p.Arg510Cys, XP_011520505.1:p.Arg510Cys, XP_005255046.1:p.Arg510Cys, NC_000015.9:g.85478696=, XR_931944.1:n.1603C>T, XM_011522208.1:c.1501C>T, XM_005254988.1:c.1528C>T, XP_005255051.1:p.Arg432Cys, XM_005254989.1:c.1528C>T, XP_011520515.1:p.Arg510Cys, XP_011520509.1:p.Arg510Cys, rs17222400, XP_011520512.1:p.Arg510Cys, NM_001287762.1:c.1528C>T, XP_005255047.1:p.Arg510Cys, NP_004204.3:p.Arg510Cys, XM_005254994.1:c.1294C>T, rs56742164, XM_005254995.1:c.1084-7980C>T, XP_011520508.1:p.Arg510Cys, XM_011522215.1:c.1084-7980C>T, NM_001287761.1:c.1084-7980C>T, XM_005254991.1:c.1528C>T, XM_011522209.1:c.1450C>T, XP_011520518.1:p.Arg432Cys, XM_011522216.1:c.1294C>T, XP_011520513.1:p.Arg432Cys, XM_005254990.1:c.1528C>T, NC_000015.10:g.84935465=, XM_011522214.1:c.1528C>T, XM_011522203.1:c.1528C>T, XM_011522204.1:c.1528C>T, XP_005255048.1:p.Arg510Cys, XM_011522213.1:c.1528C>T, XM_011522217.1:c.1084-7980C>T, XM_005254993.1:c.1450C>T, XP_011520507.1:p.Arg510Cys, NC_000015.9:g.85478696C>T, XM_011522207.1:c.1528C>T, XM_011522205.1:c.1528C>T, XM_011522206.1:c.1528C>T, NP_001274691.1:p.Arg510Cys, XP_011520510.1:p.Arg501Cys +PA166154883 rs2242048 PA387 SLC28A1 NC_000015.10:84935179 3 0 0 0 0 NC_000015.10:g.84935179=, XP_005255045.1:p.Gln456=, NC_000015.9:g.85478410A>G, XP_005255046.1:p.Gln456=, XR_931944.1:n.1443A>G, NC_000015.10:g.84935179A>G, 17216009, XM_011522217.1:c.1084-8266A>G, XM_011522209.1:c.1290A>G, 2242048, rs2242048, XP_011520511.1:p.Gln430=, NP_001274691.1:p.Gln456=, XP_011520508.1:p.Gln456=, XM_011522208.1:c.1341A>G, XP_011520507.1:p.Gln456=, NC_000015.9:g.85478410A>T, XP_005255048.1:p.Gln456=, XP_011520505.1:p.Gln456=, XP_005255047.1:p.Gln456=, XP_011520506.1:p.Gln456=, NM_004213.4:c.1368A>G, NM_001287762.1:c.1368A>G, NP_004204.3:p.Gln456=, 17609296, XM_005254994.1:c.1134A>G, rs60098916, XM_011522216.1:c.1134A>G, NC_000015.9:g.85478410=, XP_011520509.1:p.Gln456=, NC_000015.10:g.84935179A>T, XM_005254988.1:c.1368A>G, NP_004204.3:p.Gln456His, XM_005254989.1:c.1368A>G, XP_005255049.1:p.Gln447=, XP_011520512.1:p.Gln456=, rs386562297, XM_005254991.1:c.1368A>G, XP_011520514.1:p.Gln456=, 386562297, XM_005254990.1:c.1368A>G, rs17216009, XM_011522211.1:c.1134A>G, XP_005255051.1:p.Gln378=, XP_011520515.1:p.Gln456=, XP_011520516.1:p.Gln456=, XM_005254992.1:c.1341A>G, XM_005254995.1:c.1084-8266A>G, XP_011520513.1:p.Gln378=, XM_011522210.1:c.1368A>G, XM_011522212.1:c.1368A>G, XM_011522213.1:c.1368A>G, XP_011520510.1:p.Gln447=, rs17609296, NM_001287761.1:c.1084-8266A>G, XM_011522207.1:c.1368A>G, XM_011522215.1:c.1084-8266A>G, XP_011520518.1:p.Gln378=, XM_011522206.1:c.1368A>G, 60098916, XM_011522203.1:c.1368A>G, XM_011522205.1:c.1368A>G, XM_011522214.1:c.1368A>G, XP_005255050.1:p.Gln430=, XM_005254993.1:c.1290A>G, XM_011522204.1:c.1368A>G +PA166155036 rs2242446 PA310 SLC6A2 NC_000016.10:55656513 5 2 0 0 0 NC_000016.9:g.55690425C>T, NC_000016.10:g.55656513C>T, XM_006721263.2:c.-51-131C>T, 2242446, rs2242446, rs59199002, NM_001172501.1:c.-51-131C>T, NG_016969.1:g.5884C>T, NC_000016.10:g.55656513=, NC_000016.10:g.55656513C>A, XM_011523295.1:c.-51-131C>T, XR_933603.1:n.-861G>A, 59199002, NG_016969.1:g.5884=, NC_000016.10:g.55656513C>G, NM_001043.3:c.-182C>T, NM_001172504.1:c.-182C>T, NC_000016.9:g.55690425=, XR_933403.1:n.567-131C>T, XM_011523296.1:c.-51-131C>T, XM_011523298.1:c.-51-131C>T, NC_000016.9:g.55690425C>G, NG_016969.1:g.5884C>A, NG_016969.1:g.5884C>G, NC_000016.9:g.55690425C>A, XM_011523297.1:c.-51-131C>T +PA166157345 rs2242480 PA130 CYP3A4 NC_000007.14:99763843 93 13 1 0 0 NM_017460.5:c.1026+12G>A, NC_000007.13:g.99361466=, rs17161804, rs72494459, rs10364667, rs12721630, NG_054907.1:g.313=, 17161804, 72494459, NG_054907.1:g.313C>T, NG_008421.1:g.25343G>A, 2242480, 28969389, rs2242480, NG_008421.1:g.25343=, NC_000007.14:g.99763843C>T, 10364667, CYP3A4*1G (retired by PharmVar), NM_001202855.2:c.1023+12G>A, XM_011515841.1:c.1026+12G>A, rs28969389, NC_000007.13:g.99361466C>T, XM_011515842.1:c.1023+12G>A, NC_000007.14:g.99763843=, rs9655766, 9655766, 59491337, rs59491337, CYP3A4*36 (retired by PharmVar), 12721630 +PA166165286 rs2243057 PA27947 F2RL1 NC_000005.10:76831310 2 0 0 0 0 61000516, NC_000005.10:g.76831310=, 17210388, NC_000005.10:g.76831310G>A, NC_000005.9:g.76127135G>A, NC_000005.9:g.76127135=, rs2243057, 2243057 +PA166155203 rs2243093 PA178 GP1BA NC_000017.11:4932600 1 0 0 0 0 NG_008767.2:g.5306=, NM_000173.5:c.-5T>C, XP_005256668.1:p.Val28Ala, NM_000173.6:c.-5T>C, XM_005256611.1:c.83T>C, NC_000017.11:g.4932600=, NC_000017.10:g.4835895=, rs3845087, 3845087, NC_000017.11:g.4932600T>C, NC_000017.10:g.4835895T>C, NG_008767.2:g.5306T>C, rs2243093, 2243093, 59194777, rs59194777 +PA166156792 rs2243250 PA197 IL4 NC_000005.10:132673462 2 1 0 0 0 NC_000005.9:g.132009154=, NC_000005.10:g.132673462C>T, NM_000589.3:c.-589C>T, 57341116, NG_023252.1:g.4782C>T, NC_000005.9:g.132009154C>T, NC_000005.10:g.132673462C>G, rs57341116, NM_172348.2:c.-589C>T, 2243250, NC_000005.10:g.132673462=, rs2243250, NG_023252.1:g.4782=, NC_000005.9:g.132009154C>G, NG_023252.1:g.4782C>G +PA166179188 rs2244500 PA359 TYMS NC_000018.10:661005 1 0 0 0 0 NC_000018.10:g.661005A>G, NC_000018.9:g.661005=, NC_000018.9:g.661005A>T, 386562355, NG_028255.1:g.8402A>G, 2244500, NC_000018.9:g.661005A>G, NG_028255.1:g.8402A>T, rs2244500, 60189397, NC_000018.10:g.661005A>T, NC_000018.10:g.661005=, NG_028255.1:g.8402=, NC_000018.9:g.661005A>C, 17362911, NG_028255.1:g.8402A>C, NC_000018.10:g.661005A>C +PA166155037 rs2244613 PA107 CES1 NC_000016.10:55810697 16 2 0 0 0 NC_000016.10:g.55810697G>T, NM_001266.4:c.1165-33C>A, NW_003315945.1:g.34574G>T, XM_005276867.1:c.1168-33C>A, NG_012057.1:g.27467=, NC_000016.10:g.55810697=, 2244613, NG_012057.1:g.27467C>T, rs2244613, NC_000016.9:g.55844609=, NG_012057.1:g.27467C>A, NC_000016.9:g.55844609G>C, XM_005255774.1:c.1168-33C>A, rs72486000, NC_000016.9:g.55844609G>A, NC_000016.10:g.55810697G>C, rs61164855, NG_012057.1:g.27467C>G, NC_000016.10:g.55810697G>A, 61164855, 72486000, NC_000016.9:g.55844609G>T, NM_001025194.1:c.1168-33C>A, NM_001025195.1:c.1171-33C>A +PA166163241 rs2244614 PA107 CES1 NC_000016.10:55810705 2 1 0 0 0 NC_000016.10:g.55810705G>A, NC_000016.9:g.55844617=, NG_012057.1:g.27459=, 2244614, rs2244614, NG_012057.1:g.27459C>T, 72486001, NC_000016.10:g.55810705=, NC_000016.9:g.55844617G>A +PA166182236 rs224534 PA37329 TRPV1 NC_000017.11:3583408 1 1 0 0 0 NC_000017.11:g.3583408G>A, NC_000017.10:g.3486702=, NG_029716.1:g.31004=, NC_000017.11:g.3583408=, NG_029716.1:g.31004C>T, NP_061197.4:p.Thr469=, NP_061197.4:p.Thr469Ile, 224534, 60157790, rs224534, NC_000017.10:g.3486702G>A +PA166186601 rs2245360 PA32911 PAH NC_000012.12:102840766 1 0 0 0 0 2245360, NG_008690.2:g.122645=, 58368772, NC_000012.11:g.103234544G>A, NC_000012.12:g.102840766G>A, 56435151, rs2245360, NG_008690.2:g.122645C>T, NC_000012.12:g.102840766=, 17545081, NC_000012.11:g.103234544= +PA166156349 rs2245705 PA34925 SACM1L NC_000003.12:45708230 1 1 0 0 0 61193957, NC_000003.12:g.45708230=, rs56439728, 2245705, NC_000003.11:g.45749722T>C, NM_014016.4:c.334-1268T>C, XM_005264965.1:c.151-1268T>C, XR_245103.1:n.444-1268T>C, XM_011533499.1:c.151-1268T>C, XR_940392.1:n.444-1268T>C, NC_000003.11:g.45749722=, NM_001319073.1:c.25-1268T>C, 56439728, NM_001319072.1:c.151-1268T>C, XM_011533500.1:c.151-1268T>C, rs61193957, NC_000003.12:g.45708230T>C, rs2245705 +PA166156548 rs2245964 PA134880558 FGFBP1 NC_000004.12:15938292 1 0 0 0 0 NC_000004.11:g.15939915C>A, NC_000004.12:g.15938292C>A, 57335724, NM_005130.4:c.-62G>C, 2245964, NC_000004.11:g.15939915C>G, NC_000004.12:g.15938292C>G, rs57335724, NC_000004.12:g.15938292=, rs2245964, NC_000004.11:g.15939915C>T, NC_000004.11:g.15939915=, NC_000004.12:g.15938292C>T +PA166157346 rs2246709 PA130 CYP3A4 NC_000007.14:99768096 9 2 0 0 0 NG_008421.1:g.21090T>C, 56901335, XM_011515841.1:c.670+258T>C, NC_000007.14:g.99768096A>G, NM_001202855.2:c.670+258T>C, NG_008421.1:g.21090=, NC_000007.13:g.99365719A>G, XM_011515842.1:c.670+258T>C, NC_000007.14:g.99768096=, rs2246709, rs56901335, NM_017460.5:c.670+258T>C, 2246709, NC_000007.13:g.99365719= +PA166154005 rs2247383 PA31783 NRP1 NC_000010.11:33200124 1 0 0 0 0 NC_000010.11:g.33200124G>A, NM_001244972.1:c.1844-2415C>T, NC_000010.11:g.33200124G>C, XM_006717522.1:c.1865-2415C>T, NC_000010.11:g.33200124=, NG_030328.1:g.139782=, rs2247383, 2247383, XM_006717521.1:c.1865-2415C>T, rs60997093, NM_001244973.1:c.1844-2415C>T, XM_006717526.1:c.1865-2415C>T, NR_045259.1:n.2185-2415C>T, NM_001024628.2:c.1865-2415C>T, NC_000010.10:g.33489052=, NG_030328.1:g.139782C>T, 60997093, NM_003873.5:c.1865-2415C>T, XM_006717525.1:c.1760-2415C>T, XM_011519755.1:c.1844-2415C>T, XM_011519756.1:c.1760-2415C>T, XM_006717524.1:c.1760-2415C>T, NG_030328.1:g.139782C>G, XM_006717523.1:c.1865-2415C>T, NM_001024629.2:c.1760-2415C>T, rs17599532, NC_000010.10:g.33489052G>A, 17599532, NC_000010.10:g.33489052G>C +PA166157027 rs2247408 PA33379 PLAGL1 NC_000006.12:143957125 1 0 0 0 0 NM_001289047.1:c.-324-8665A>G, NG_009384.2:g.112474=, NM_001289039.1:c.-5+7662A>G, NM_001289048.1:c.-325+3344A>G, NM_001080953.2:c.-325+3344A>G, NM_001289049.1:c.-325+3344A>G, NM_006718.4:c.-325+3344A>G, NM_001080952.2:c.-325+3344A>G, NM_001289041.1:c.-5+3344A>G, NC_000006.12:g.143957125=, XM_005267022.1:c.-325+3344A>G, NM_001289037.1:c.-5+3344A>G, XM_005267023.1:c.-5+3344A>G, XM_005267028.1:c.-5+3344A>G, NM_001317161.1:c.-325+3344A>G, NM_001289045.1:c.-325+3344A>G, NG_009384.1:g.112474=, NC_000006.11:g.144278262=, NM_001317158.1:c.-5+3344A>G, XM_005267034.1:c.-5+7662A>G, NM_001080951.2:c.-325+3344A>G, XM_005267029.1:c.-5+3344A>G, NC_000006.11:g.144278262T>C, NM_001317156.1:c.-325+3344A>G, NM_001317159.1:c.-325+3344A>G, XM_005267033.1:c.-5+7662A>G, XM_005267020.1:c.-325+3344A>G, NM_001080954.2:c.-325+3344A>G, NM_001080956.2:c.-5+3344A>G, NM_001289042.1:c.-325+7662A>G, NM_001289043.1:c.-325+3344A>G, NM_001289040.1:c.-5+3344A>G, NM_001080955.2:c.-5+3344A>G, NM_001289044.1:c.-325+3344A>G, NM_001317162.1:c.-325+3344A>G, XM_005267027.1:c.-5+3344A>G, rs2247408, NM_001317157.1:c.-325+3344A>G, 2247408, XM_005267032.1:c.-5+3344A>G, NM_002656.3:c.-5+3344A>G, NC_000006.12:g.143957125T>C, XM_005267031.1:c.-5+3344A>G, XM_005267021.1:c.-325+3344A>G, NM_001289046.1:c.-325+3344A>G, XM_005267026.1:c.-5+7662A>G, NM_001289038.1:c.-5+3344A>G, XM_005267024.1:c.-5+3344A>G, XM_005267030.1:c.-5+3344A>G, NG_009384.1:g.112474A>G, NG_009384.2:g.112474A>G, NM_001317160.1:c.-5+3344A>G, XM_005267025.1:c.-5+3344A>G +PA166155388 rs2248069 PA26007 CACNA1A NC_000019.10:13334394 1 0 0 0 0 XP_005260124.1:p.Glu394=, NC_000019.10:g.13334394C>T, XP_005260123.1:p.Glu394=, rs117938552, NG_011569.1:g.177067G>A, XP_005260122.1:p.Glu394=, NC_000019.9:g.13445208=, NG_011569.1:g.177067G>C, NP_000059.3:p.Glu394Asp, NC_000019.10:g.13334394C>G, 117938552, XM_005260068.1:c.1182G>A, NP_001120693.1:p.Glu394=, XM_005260067.1:c.1182G>A, NC_000019.9:g.13445208C>T, NM_001127222.1:c.1182G>A, NP_001120694.1:p.Glu394=, XM_005260065.1:c.1182G>A, XM_005260066.1:c.1182G>A, NC_000019.10:g.13334394=, NP_000059.3:p.Glu394=, NM_001127221.1:c.1182G>A, NC_000019.9:g.13445208C>G, NG_011569.1:g.177067=, rs2248069, 2248069, NM_001174080.1:c.1182G>A, 61294915, NP_001167551.1:p.Glu394=, NP_075461.2:p.Glu394=, rs61294915, XP_005260125.1:p.Glu394=, NM_000068.3:c.1182G>A, NM_023035.2:c.1182G>A +PA166170863 rs2248359 PA27097 CYP24A1 NC_000020.11:54174979 4 2 0 0 0 NC_000020.11:g.54174979C>T, NC_000020.11:g.54174979=, rs2248359, 2248359, NG_008334.1:g.3999G>A, NC_000020.10:g.52791518=, NC_000020.10:g.52791518C>T, 57924464, NG_008334.1:g.3999= +PA166153685 rs2248829 PA35916 SLC6A9 NC_000001.11:44002563 1 0 0 0 0 NC_000001.11:g.44002563G>A, XR_246291.1:n.929C>T, NC_000001.10:g.44468235G>A, 60350310, NC_000001.10:g.44468235=, NP_008865.2:p.Asp288=, NR_048549.1:n.790C>T, XM_005271146.1:c.474C>T, NM_201649.3:c.1026C>T, rs60350310, NP_001248309.1:p.Asp273=, 117495843, NP_001020016.1:p.Asp269=, rs117495843, XP_011540319.1:p.Asp342=, NM_001261380.1:c.819C>T, NG_050929.1:g.33930C>T, NM_001024845.2:c.807C>T, NP_964012.2:p.Asp342=, NG_050929.1:g.33930=, XP_005271203.1:p.Asp158=, NM_006934.3:c.864C>T, XP_005271202.1:p.Asp328=, NR_048548.1:n.1071C>T, NC_000001.11:g.44002563=, XM_005271145.1:c.984C>T, rs2248829, 2248829, XM_011542017.1:c.1026C>T +PA166300261 rs2249015 PA27792 ENPP2 NC_000008.11:119593412 2 0 0 0 0 52812060, 59963028, NC_000008.11:g.119593412=, 17802359, NC_000008.10:g.120605652=, NG_029498.3:g.85165=, NC_000008.10:g.120605652G>A, NC_000008.11:g.119593412G>A, 2249015, rs2249015, NG_029498.3:g.85165C>T +PA166154706 rs2249825 PA188 HMGB1 NC_000013.11:30463766 1 0 0 0 0 NC_000013.11:g.30463766G>T, XR_941568.1:n.143-72C>G, XM_005266364.1:c.-14-72C>G, XM_011535055.1:c.-14-72C>G, 17662811, XM_005266366.1:c.-14-72C>G, NC_000013.11:g.30463766G>C, NC_000013.11:g.30463766G>A, NM_002128.5:c.-14-72C>G, rs2249825, 2249825, NM_001313892.1:c.-14-72C>G, 60468656, XM_005266363.1:c.-14-72C>G, XM_011535056.1:c.-14-72C>G, NC_000013.10:g.31037903G>A, NC_000013.10:g.31037903=, NC_000013.10:g.31037903G>C, XM_005266368.1:c.-14-72C>G, XM_005266365.1:c.-14-72C>G, NC_000013.11:g.30463766=, rs60468656, XM_005266367.1:c.-14-72C>G, rs17662811, NC_000013.10:g.31037903G>T, NM_001313893.1:c.-14-72C>G +PA166154767 rs225014 PA27338 DIO2 NC_000014.9:80203237 1 0 0 0 0 NM_001242502.1:c.*75A>G, rs17846619, 58487938, 225820, NM_001007023.3:c.382A>G, 116842360, NP_054644.1:p.Thr92Ala, NC_000014.8:g.80669580=, NM_001242503.1:c.*75A>G, 225014, NC_000014.9:g.80203237=, NP_000784.3:p.Thr92=, NC_000014.9:g.80203237T>C, rs17859709, 52803747, 17846619, rs225014, 386562542, NP_001007024.1:p.Thr128Ala, rs3815549, 3815549, NM_000793.5:c.274A>G, NP_000784.3:p.Thr92Ala, rs52803747, 17859709, rs116842360, NC_000014.8:g.80669580T>C, rs58487938, rs386562542, rs225820, NM_013989.4:c.274A>G, NP_000784.2:p.Thr92Ala +PA166157747 rs2250242 PA134908332,PA32818 AKNA,ORM2 NC_000009.12:114341693 2 1 0 0 0 XR_929846.1:n.4036T>C, XM_005252247.1:c.3907T>C, XP_011517365.1:p.Ser1184Pro, XP_005252305.1:p.Ser1271Pro, XM_005252245.1:c.3907T>C, NP_001304881.1:p.Ser1184Pro, XM_005252246.1:c.3907T>C, NC_000009.11:g.117103973A>C, NP_001304879.1:p.Ser1303Pro, rs17857447, XP_011517362.1:p.Ser1252Pro, XM_011519063.1:c.3550T>C, XM_005252244.1:c.3907T>C, XP_005252300.1:p.Ser1303Pro, NP_110394.3:p.Ser1303=, XM_005252243.1:c.3907T>C, NC_000009.11:g.117103973A>G, NC_000009.12:g.114341693=, NP_110394.3:p.Ser1303Ala, XP_011517367.1:p.Ser1262Pro, XP_005252303.1:p.Ser1303Pro, 59133154, XM_011519062.1:c.3664T>C, XM_011519065.1:c.3784T>C, rs116882987, NP_110394.3:p.Ser1303Pro, XR_929844.1:n.4143T>C, XR_929845.1:n.4143T>C, XM_006717294.1:c.3907T>C, 2250242, XM_005252247.3:c.3907T>C, XP_005252302.1:p.Ser1303Pro, rs52828574, NC_000009.12:g.114341693A>G, NM_001317952.1:c.3550T>C, XP_011517364.1:p.Ser1222Pro, XM_011519059.1:c.3907T>C, XP_005252301.1:p.Ser1303Pro, NC_000009.12:g.114341693A>C, NM_030767.5:c.3907T>C, XP_011517361.1:p.Ser1303Pro, rs59133154, NM_001317950.1:c.3907T>C, XP_005252304.1:p.Ser1303Pro, XM_011519060.1:c.3754T>C, NC_000009.11:g.117103973A>T, 116882987, XM_011519061.1:c.3706T>C, XP_006717357.1:p.Ser1303Pro, NP_110394.3:p.Ser1303Thr, 17857447, XP_011517363.1:p.Ser1236Pro, XM_005252244.2:c.3907T>C, 52828574, NC_000009.12:g.114341693A>T, XM_005252248.1:c.3811T>C, NC_000009.11:g.117103973=, rs2250242 +PA166155389 rs2250656 PA25897 C3 NC_000019.10:6718523 1 0 0 0 0 NC_000019.10:g.6718523T>C, NG_009557.1:g.7129=, rs386562560, NG_009557.1:g.7129A>G, NC_000019.9:g.6718534=, rs57061109, rs2250656, 2250656, NC_000019.9:g.6718534T>C, NM_000064.3:c.268-111A>G, NC_000019.10:g.6718523=, NM_000064.2:c.268-111A>G, 386562560, 57061109 +PA166196881 rs2251214 PA36290 SYT1 NC_000012.12:79430071 2 1 0 0 0 NC_000012.11:g.79823851=, 386562576, 2251214, 59327555, NC_000012.12:g.79430071A>G, rs2251214, NC_000012.12:g.79430071=, NC_000012.11:g.79823851A>G, NC_000012.11:g.79823851A>T, NC_000012.12:g.79430071A>T +PA166155675 rs2251692 NC_000002.12:226725064 1 0 0 0 0 NC_000002.12:g.226725064=, rs60383459, NC_000002.12:g.226725064A>G, 2251692, 60383459, rs2251692, NC_000002.11:g.227589780=, NC_000002.11:g.227589780A>G +PA166156350 rs2251954 PA34925 SACM1L NC_000003.12:45690292 1 1 0 0 0 XR_940392.1:n.142+795T>C, NC_000003.12:g.45690292T>C, NM_014016.4:c.32+795T>C, XM_005264965.1:c.-24+795T>C, 3774665, NC_000003.11:g.45731784T>G, XR_245103.1:n.142+795T>C, NC_000003.12:g.45690292T>G, NC_000003.11:g.45731784T>C, NM_001319073.1:c.-317-56T>C, NM_001319072.1:c.-24+795T>C, 60407120, XM_011533499.1:c.-24+795T>C, rs3774665, NC_000003.12:g.45690292=, NR_033947.1:n.-1410A>G, NC_000003.11:g.45731784=, XM_011533500.1:c.-63-56T>C, rs2251954, 2251954, rs60407120 +PA166155204 rs2252281 PA162403808 SLC47A1 NC_000017.11:19533874 7 1 0 0 0 rs2252281, XM_005256710.1:c.-66T>C, NC_000017.11:g.19533874=, 2252281, NC_000017.10:g.19437187=, XM_005256712.1:c.-66T>C, XM_005256713.1:c.-66T>C, XM_005256714.1:c.-66T>C, NM_018242.2:c.-66T>C, NC_000017.10:g.19437187T>C, XM_005256711.1:c.-66T>C, NC_000017.11:g.19533874T>C +PA166238521 rs2253201 PA220 KCNMA1 NC_000010.11:77596639 1 1 0 0 0 NC_000010.10:g.79356397=, NC_000010.10:g.79356397G>C, 386562662, NG_012270.1:g.46181C>T, NG_012270.1:g.46181C>G, NC_000010.11:g.77596639G>C, 59802225, NC_000010.11:g.77596639=, NC_000010.11:g.77596639G>A, NG_012270.1:g.46181=, NC_000010.10:g.79356397G>A, rs2253201, 2253201 +PA166154357 rs2254237 PA31452 NAV2 NC_000011.10:20014313 1 0 0 0 0 NM_145117.4:c.2769-21646C>T, NC_000011.10:g.20014313C>A, NC_000011.10:g.20014313C>G, XM_011520444.1:c.2838-21646C>T, XM_011520451.1:c.2559-21646C>T, NM_182964.5:c.2769-21646C>T, NC_000011.10:g.20014313C>T, XM_006718364.2:c.2769-21646C>T, NC_000011.9:g.20035859C>T, XM_011520449.1:c.2838-21646C>T, NG_030347.1:g.668589C>G, XM_011520450.1:c.2838-21646C>T, 2254237, rs2254237, XM_011520448.1:c.2709-21646C>T, XM_011520446.1:c.2838-21646C>T, NG_030347.1:g.668589C>A, XM_011520445.1:c.2838-21646C>T, NC_000011.9:g.20035859C>A, NM_001244963.1:c.2838-21646C>T, XM_006718366.2:c.2622-21646C>T, NG_030347.1:g.668589C>T, XM_011520452.1:c.2577-21646C>T, NC_000011.10:g.20014313=, NC_000011.9:g.20035859C>G, XR_931100.1:n.491-5182G>A, NG_030347.1:g.668589=, NM_001111018.1:c.2577-21646C>T, XM_011520447.1:c.2838-21646C>T, XM_006718365.2:c.2838-21646C>T, NC_000011.9:g.20035859= +PA166155976 rs225440 PA24408 ABCG1 NC_000021.9:42232943 1 1 0 0 0 386562698, rs225440, rs3827226, NC_000021.8:g.43653053C>T, NM_016818.2:c.286+7029C>T, NM_207627.1:c.292+7029C>T, NM_207629.1:c.277+7029C>T, 3827226, NC_000021.9:g.42232943C>A, NC_000021.8:g.43653053=, NM_207628.1:c.220+7029C>T, 56980987, rs56980987, rs386562698, XM_005261209.1:c.319+7029C>T, 872748, NC_000021.8:g.43653053C>A, rs872748, rs474673, NM_207174.1:c.319+7029C>T, 225440, XM_011529806.1:c.319+7029C>T, XM_011529807.1:c.319+7029C>T, NC_000021.9:g.42232943C>T, NC_000021.9:g.42232943=, 474673, NM_004915.3:c.286+7029C>T +PA166164927 rs2254638 PA162396656 N6AMT1 NC_000021.9:28883961 5 1 0 0 0 2254638, NC_000021.9:g.28883961A>C, NC_000021.9:g.28883961A>T, 61648899, NC_000021.9:g.28883961=, rs2254638, NC_000021.9:g.28883961A>G, 58031625, NC_000021.8:g.30256283A>G, NC_000021.8:g.30256283A>C, NC_000021.8:g.30256283=, NC_000021.8:g.30256283A>T +PA166154006 rs2256871 PA126 CYP2C9 NC_000010.11:94949217 7 0 0 0 0 NC_000010.10:g.96708974A>G, rs61450779, XP_005269632.1:p.His251Arg, rs52824334, 52824334, NC_000010.11:g.94949217A>G, XM_005269575.1:c.752A>G, 61450779, NG_008385.2:g.16060=, NC_000010.11:g.94949217=, NM_000771.3:c.752A>G, NG_008385.1:g.15560=, NG_008385.2:g.16060A>G, NC_000010.10:g.96708974=, NP_000762.2:p.His251Arg, rs2256871, NG_008385.1:g.15560A>G, NP_000762.2:p.His251=, 2256871 +PA166159807 rs2257212 PA35812 SLC15A2 NC_000003.12:121924957 2 1 0 0 0 NP_066568.3:p.Leu350=, NC_000003.11:g.121643804C>G, NP_066568.3:p.Leu350Val, NP_066568.3:p.Leu350Phe, NC_000003.11:g.121643804=, 61711445, NC_000003.12:g.121924957C>G, 52832599, NC_000003.12:g.121924957=, NC_000003.11:g.121643804C>T, NC_000003.12:g.121924957C>T, rs2257212, 2257212 +PA166157347 rs2257401 PA122,PA134962723 CYP3A7,ZSCAN25 NC_000007.14:99709062 4 0 0 0 0 NM_001256497.2:c.1226C>G, NG_007983.1:g.31137C=, 11536558, NP_000756.3:p.Thr409Arg, NP_001243426.2:p.Thr409Arg, NG_007983.1:g.31137C>G, NM_000765.4:c.1226C>G, NM_001256497.2:c.1226C=, XP_005250225.1:p.Arg408Thr, NG_007983.1:g.31137=, XM_005250168.1:c.1223G>C, NC_000007.14:g.99709062G>C, 57389434, NP_001243426.2:p.Thr409=, NC_000007.14:g.99709062=, XR_927402.1:n.1467-14413G>C, rs11536558, rs57389434, rs2257401, 2257401, NC_000007.13:g.99306685C>G, NM_000765.4:c.1226C=, NP_000756.3:p.Thr409= +PA166153686 rs2260863 PA27829 EPHX1 NC_000001.11:225832073 4 0 0 0 0 rs2260863, 2260863, 57978216, NC_000001.11:g.225832073G>A, rs57978216, NG_009776.1:g.26978=, NG_009776.1:g.26978G>A, NG_009776.1:g.26978G>C, NC_000001.10:g.226019774=, NC_000001.10:g.226019774G>A, XM_005273085.1:c.364+114G>C, NC_000001.11:g.225832073G>C, NM_000120.3:c.364+114G>C, NC_000001.11:g.225832073=, NC_000001.10:g.226019774G>C, NM_001136018.3:c.364+114G>C, NM_001291163.1:c.364+114G>C +PA166253145 rs2261988 PA134917663,PA37196 ARRDC5,UHRF1 NC_000019.10:4910877 1 0 0 0 0 NG_033256.2:g.12798=, NP_037414.3:p.Ala11=, NC_000019.10:g.4910877G>C, rs2261988, 2261988, NC_000019.10:g.4910877G>A, 17885972, NC_000019.10:g.4910877=, NP_037414.3:p.Ala11Thr, NG_033256.2:g.12798G>T, NC_000019.9:g.4910889G>T, NP_037414.3:p.Ala11Ser, NC_000019.10:g.4910877G>T, NC_000019.9:g.4910889G>A, NC_000019.9:g.4910889=, NP_037414.3:p.Ala11Pro, NC_000019.9:g.4910889G>C, 59436293, NG_033256.2:g.12798G>A, NG_033256.2:g.12798G>C +PA166156090 rs2266637 PA183 GSTT1 1 0 0 0 0 NM_001293807.1:c.463G>A, NM_001293808.1:c.151G>A, NM_001293811.1:c.151G>A, NM_001293813.1:c.201-228G>A, rs762585649, rs2266637, XP_005261644.1:p.Val218Ile, 2266637, NM_000853.3:c.505G>A, XP_005261646.1:p.Val51Ile, XP_005261645.1:p.Val51Ile, rs56671512, XM_005261588.1:c.151G>A, NC_000022.10:g.24376845C>T, NM_001293812.1:c.151G>A, NM_001293814.1:c.113-228G>A, 56671512, NC_000022.10:g.24376845=, NP_001280737.1:p.Val51Ile, NP_001280739.1:p.Val51Ile, NP_000844.2:p.Val169=, NP_001280736.1:p.Val155Ile, NT_187633.1:g.271020C>T, XM_005261589.1:c.151G>A, NP_001280738.1:p.Val51Ile, XM_005261587.2:c.652G>A, NP_001280740.1:p.Val51Ile, NP_001280741.1:p.Val51Ile, NM_001293810.1:c.151G>A, NM_001293809.1:c.151G>A, 762585649, NP_000844.2:p.Val169Ile, XM_005261587.1:c.652G>A +PA166153687 rs2266780 PA166 FMO3 NC_000001.11:171114102 8 4 0 0 0 NM_006894.5:c.923A>G, XM_005245044.1:c.734A>G, XM_005245043.1:c.863A>G, NM_001319174.1:c.734A>G, rs57860801, NC_000001.11:g.171114102A>G, rs17564742, NP_001002294.1:p.Glu308Gly, XM_011509346.1:c.863A>G, NP_001306102.1:p.Glu288Gly, NC_000001.10:g.171083242A>G, 57076237, NP_008825.4:p.Glu308Gly, XP_011507647.1:p.Glu288Gly, NM_001002294.2:c.923A>G, NP_001306103.1:p.Glu245Gly, rs57076237, 17564742, 57860801, XM_011509345.1:c.863A>G, NG_012690.1:g.28225A>G, 80356549, NC_000001.11:g.171114102=, NP_008825.4:p.Glu308=, rs2266780, NM_001319173.1:c.863A>G, XP_005245100.1:p.Glu288Gly, 2266780, XP_011507648.1:p.Glu288Gly, XP_005245101.1:p.Glu245Gly, rs80356549, NC_000001.10:g.171083242=, NG_012690.1:g.28225= +PA166153688 rs2266782 PA166 FMO3 NC_000001.11:171107825 6 2 0 0 0 NM_001002294.2:c.472G>A, XP_011507648.1:p.Glu138Lys, XP_005245100.1:p.Glu138Lys, XM_005245043.1:c.412G>A, NM_001319174.1:c.283G>A, rs3738810, NG_012690.1:g.21949=, NC_000001.11:g.171107825G>A, rs60462518, 3738810, NG_012690.1:g.21949G>A, XM_005245044.1:c.283G>A, 60462518, NM_006894.5:c.472G>A, XM_011509346.1:c.412G>A, NP_001306103.1:p.Glu95Lys, rs52795018, NC_000001.11:g.171107825=, XM_011509345.1:c.412G>A, 80356548, NP_001306102.1:p.Glu138Lys, NP_008825.4:p.Glu158=, XP_011507647.1:p.Glu138Lys, rs2266782, NP_001002294.1:p.Glu158Lys, 2266782, 52795018, NP_008825.4:p.Glu158Lys, rs80356548, NC_000001.10:g.171076966=, NM_001319173.1:c.412G>A, XP_005245101.1:p.Glu95Lys, NC_000001.10:g.171076966G>A +PA166266321 rs2266788 PA24888,PA37629 APOA5,ZPR1 NC_000011.10:116789970 1 0 0 0 0 NG_015894.2:g.7451=, NG_015894.1:g.7451=, NG_015894.1:g.7451C>T, rs2266788, 2266788, NC_000011.9:g.116660686=, NG_015894.2:g.7451C>G, NC_000011.10:g.116789970=, NC_000011.9:g.116660686G>C, NC_000011.9:g.116660686G>A, 60220612, NG_015894.1:g.7451C>G, NC_000011.10:g.116789970G>A, NC_000011.10:g.116789970G>C, NG_015894.2:g.7451C>T +PA166156091 rs2267076 PA24584,PA165378332 ADORA2A,ADORA2A-AS1 NC_000022.11:24434627 3 1 0 0 0 NR_028484.2:n.834-2193A>G, NC_000022.11:g.24434627=, NM_001278499.1:c.332+891T>C, NR_103543.1:n.186-5956T>C, NR_103546.1:n.4511+891T>C, NM_000675.5:c.332+891T>C, NM_001278497.1:c.332+891T>C, NC_000022.10:g.24830595T>C, NR_103544.1:n.166-5956T>C, NG_052804.1:g.16031T>C, NG_052804.1:g.16031=, rs2267076, 2267076, NM_001278498.1:c.332+891T>C, NC_000022.10:g.24830595=, NM_001278500.1:c.332+891T>C, NC_000022.11:g.24434627T>C +PA166157348 rs2267715 PA26875 CRHR2 NC_000007.14:30676471 2 1 0 0 0 NC_000007.14:g.30676471G>C, NM_001202481.1:c.187+5444C>T, XR_242065.1:n.474+5444C>T, rs57512960, NG_029169.1:g.28633=, rs2267715, NC_000007.14:g.30676471=, NC_000007.14:g.30676471G>A, 2267715, NC_000007.13:g.30716087G>A, NC_000007.13:g.30716087=, NM_001202475.1:c.310+5444C>T, XM_011515127.1:c.229+5444C>T, NC_000007.13:g.30716087G>C, NG_029169.1:g.28633C>T, NM_001883.4:c.229+5444C>T, 57512960, XM_011515129.1:c.229+5444C>T, NM_001202482.1:c.229+5444C>T, XM_011515128.1:c.229+5444C>T, NM_001202483.1:c.229+5444C>T, NG_029169.1:g.28633C>G +PA166157028 rs2268639 PA28725 GLP1R NC_000006.12:39082846 1 2 0 0 0 rs59254920, rs2268639, NC_000006.11:g.39050622T>A, XR_926153.1:n.1284+2107T>A, NC_000006.12:g.39082846T>A, NC_000006.11:g.39050622=, 2268639, XR_926155.1:n.1284+2107T>A, NM_002062.3:c.1224+2107T>A, NC_000006.12:g.39082846=, XR_241888.1:n.1284+2107T>A, XR_241889.1:n.1284+2107T>A, XR_926154.1:n.1284+2107T>A, 59254920 +PA166155205 rs2269457 PA31748,PA36507 NR1D1,THRA NC_000017.11:40098436 1 0 0 0 0 NC_000017.11:g.40098436T>C, NC_000017.10:g.38254689=, 386562981, NG_033084.1:g.7290A>G, NM_021724.4:c.32-1033A>G, 57192040, rs2269457, 2269457, NC_000017.10:g.38254689T>C, NG_033084.1:g.7290=, rs386562981, rs57192040, NC_000017.11:g.40098436= +PA166156092 rs2269577 PA37400,PA134983897 XBP1,ZNRF3 NC_000022.11:28800769 8 1 0 0 0 NG_012266.1:g.4804C>T, XM_011530435.1:c.-194+32G>C, 61323997, NC_000022.10:g.29196757=, rs2269577, 2269577, NC_000022.11:g.28800769G>A, NC_000022.11:g.28800769G>C, NG_012266.1:g.4804C>G, NM_005080.3:c.-245C>G, NG_012266.1:g.4804=, NC_000022.10:g.29196757G>C, XM_011530436.1:c.-262+32G>C, NC_000022.11:g.28800769=, NM_001079539.1:c.-245C>G, rs61323997, NC_000022.10:g.29196757G>A +PA166155390 rs2269879 PA134993717 DOT1L NC_000019.10:2194897 2 1 0 0 0 NC_000019.10:g.2194897T>C, XM_005259659.1:c.651+320T>C, XM_005259659.2:c.651+320T>C, rs58400820, XM_005259660.1:c.651+320T>C, NC_000019.10:g.2194897T>G, NM_032482.2:c.651+320T>C, NC_000019.9:g.2194896=, NG_029793.1:g.35749=, XM_005259660.2:c.651+320T>C, rs2269879, XM_011528360.1:c.441+320T>C, 2269879, NG_029793.1:g.35749T>G, rs52816020, XM_011528359.1:c.651+320T>C, NC_000019.10:g.2194897=, NG_029793.1:g.35749T>C, 58400820, NC_000019.9:g.2194896T>C, NC_000019.9:g.2194896T>G, XM_006722923.2:c.31+320T>C, 52816020 +PA166157349 rs2270007 PA26875 CRHR2 NC_000007.14:30660356 1 1 0 0 0 NC_000007.14:g.30660356=, NM_001202483.1:c.831+217C>G, XR_242065.1:n.1076+217C>G, NG_029169.1:g.44748=, NM_001202475.1:c.912+217C>G, 57037816, XM_011515128.1:c.831+217C>G, XM_011515127.1:c.831+217C>G, NM_001883.4:c.831+217C>G, NM_001202482.1:c.828+217C>G, NM_001202481.1:c.789+217C>G, rs57037816, 10366828, rs2270007, NC_000007.14:g.30660356G>C, NG_029169.1:g.44748C>G, NC_000007.13:g.30699972=, NC_000007.13:g.30699972G>C, 2270007, rs10366828, XM_011515129.1:c.831+217C>G +PA166185415 rs2270083 PA33329 PIP5K1C NC_000019.10:3646644 1 0 0 0 0 NC_000019.9:g.3646642=, NG_012161.2:g.58804T>A, NC_000019.9:g.3646642A>T, NG_012161.2:g.58804T>C, NC_000019.10:g.3646644A>G, NG_012161.1:g.58804=, NC_000019.9:g.3646642A>G, NG_012161.1:g.58804T>A, NG_012161.1:g.58804T>C, NG_012161.2:g.58804=, 2270083, 59535919, NC_000019.10:g.3646644=, rs2270083, NC_000019.10:g.3646644A>T +PA166157029 rs2270450 PA134970102,PA134945900 SLC25A27,TDRD6 NC_000006.12:46677138 1 0 0 0 0 NM_001204052.1:c.*458C>T, NC_000006.11:g.46644875=, XM_005249483.2:c.*556C>T, NM_001204051.1:c.*489C>T, NC_000006.11:g.46644875C>T, XR_241952.1:n.1049+395C>T, XR_242029.1:n.252-6553G>A, NR_134642.1:n.235-6553G>A, NC_000006.12:g.46677138=, NG_051941.1:g.1871C>T, XR_242029.2:n.235-6553G>A, rs59086356, XM_005249483.1:c.*556C>T, NG_051941.1:g.1871=, NC_000006.12:g.46677138C>T, XR_242030.1:n.82-6553G>A, rs17288886, NR_134644.1:n.160-6553G>A, 2270450, 59086356, NR_134643.1:n.233-6553G>A, NM_004277.4:c.*684C>T, XM_005249485.1:c.*684C>T, 17288886, XM_005249484.1:c.*684C>T, XR_427858.1:n.1509+395C>T, rs2270450 +PA166154538 rs2270777 PA102 CDK4 NC_000012.12:57751373 1 1 0 0 0 NG_007484.2:g.6009=, rs116993627, NC_000012.11:g.58145156C>T, NM_000075.3:c.219-31G>A, NM_000075.2:c.219-31G>A, rs3211611, NG_007484.2:g.6009G>C, 3211611, NG_007484.2:g.6009G>A, XR_245887.1:n.585-31G>A, NC_000012.11:g.58145156=, rs2270777, NC_000012.12:g.57751373=, NC_000012.12:g.57751373C>T, NC_000012.12:g.57751373C>G, XM_005268560.1:c.-4-31G>A, 2270777, NC_000012.11:g.58145156C>G, 116993627 +PA166163754 rs2270860 PA35848 SLC22A7 NC_000006.12:43302413 1 1 0 0 0 rs2270860, NP_006663.2:p.Ser423=, NC_000006.11:g.43270151C>T, NC_000006.11:g.43270151=, NC_000006.12:g.43302413C>T, 57749686, 2270860, NC_000006.12:g.43302413= +PA166156793 rs2270927 PA134888452 SV2C NC_000005.10:76295885 1 0 0 0 0 NC_000005.9:g.75591710=, NP_001284645.1:p.Thr482Ser, NC_000005.10:g.76295885=, NP_055794.3:p.Thr482Ser, NP_055794.3:p.Thr482Ile, XP_005248527.1:p.Thr482Ser, rs52802028, NC_000005.10:g.76295885C>T, NC_000005.9:g.75591710C>G, NC_000005.9:g.75591710C>A, NC_000005.10:g.76295885C>G, NC_000005.10:g.76295885C>A, NP_055794.3:p.Thr482Asn, 2270927, rs17674646, rs2270927, NM_001297716.1:c.1445C>G, NC_000005.9:g.75591710C>T, NM_014979.3:c.1445C>G, XP_011541583.1:p.Thr482Ser, XR_948491.1:n.355-41G>C, NP_055794.3:p.Thr482=, XM_011543281.1:c.1445C>G, XM_011543282.1:c.692C>G, XP_011541584.1:p.Thr231Ser, 52802028, 17674646, XM_005248470.1:c.1445C>G +PA166180037 rs2271167 PA60 ARRB2 NC_000017.11:4719585 3 0 0 0 0 NC_000017.11:g.4719585A>C, NC_000017.11:g.4719585A>T, NC_000017.10:g.4622880A>G, NC_000017.11:g.4719585A>G, 34175113, NC_000017.11:g.4719585=, NC_000017.10:g.4622880=, NC_000017.10:g.4622880A>C, rs2271167, 2271167, NC_000017.10:g.4622880A>T +PA166185754 rs2271339 PA134968284 ADGRL3 NC_000004.12:61996667 1 1 0 0 0 NC_000004.12:g.61996667A>G, 57311640, NC_000004.12:g.61996667A>C, NG_033950.2:g.800412A>T, NC_000004.11:g.62862385A>G, NG_033950.2:g.800412=, NC_000004.11:g.62862385A>T, 17292156, NC_000004.12:g.61996667=, NG_033950.2:g.800412A>C, NC_000004.12:g.61996667A>T, rs2271339, NC_000004.11:g.62862385=, 2271339, NG_033950.2:g.800412A>G, NC_000004.11:g.62862385A>C +PA166313181 rs2271862 PA24377 ABCA2 NC_000009.12:137011907 2 0 0 0 0 57203116, NC_000009.11:g.139906359G>A, NC_000009.12:g.137011907G>C, NC_000009.11:g.139906359G>C, NC_000009.12:g.137011907G>A, NG_011789.1:g.22016=, NG_011789.1:g.22016C>G, 17845183, NC_000009.11:g.139906359=, NG_011789.1:g.22016C>A, rs2271862, NP_001597.2:p.His1824=, NP_001597.2:p.His1824Gln, 2271862, NC_000009.12:g.137011907G>T, NC_000009.12:g.137011907=, NC_000009.11:g.139906359G>T, 17857993, NG_011789.1:g.22016C>T +PA166303461 rs2272653 PA31482 NDRG1 NC_000008.11:133280273 1 0 0 0 0 NC_000008.11:g.133280273A>T, rs2272653, 2272653, NC_000008.11:g.133280273=, NG_007943.1:g.21983=, NC_000008.10:g.134292516A>T, NC_000008.10:g.134292516=, NC_000008.10:g.134292516A>G, NG_007943.1:g.21983T>C, 59405446, NG_007943.1:g.21983T>A, NC_000008.11:g.133280273A>G +PA166203342 rs2272733 PA29776 IKBKB NC_000008.11:42300384 1 1 0 0 0 NC_000008.11:g.42300384=, NC_000008.10:g.42157902=, NC_000008.10:g.42157902T>C, 56647779, NC_000008.10:g.42157902T>A, rs2272733, NC_000008.11:g.42300384T>G, 2272733, NC_000008.11:g.42300384T>A, NC_000008.10:g.42157902T>G, NC_000008.11:g.42300384T>C, 57067138, NG_041793.1:g.34083=, 17875697, NG_041793.1:g.34083T>G, NG_041793.1:g.34083T>A, NG_041793.1:g.34083T>C +PA166155924 rs2273359 PA38055 NELFCD NC_000020.11:58987047 1 1 0 0 0 XR_244142.1:n.344+184C>G, XR_244142.2:n.344+184C>G, NC_000020.10:g.57562102C>G, XM_011528849.1:c.-328+184C>G, NC_000020.11:g.58987047C>T, 58920781, NC_000020.11:g.58987047=, NC_000020.10:g.57562102C>T, rs2273359, 2273359, NC_000020.10:g.57562102=, rs58920781, XR_244141.1:n.344+184C>G, NC_000020.11:g.58987047C>G, NM_198976.2:c.340+184C>G +PA166183954 rs2273502 PA26490 CHRNA4 NC_000020.11:63356470 1 0 0 0 0 rs2273502, 2273502, NC_000020.10:g.61987822=, NC_000020.11:g.63356470=, NG_011931.1:g.9874G>A, NC_000020.10:g.61987822C>T, NG_011931.1:g.9874=, NC_000020.11:g.63356470C>T +PA166155925 rs2273504 PA26490 CHRNA4 NC_000020.11:63356709 1 0 0 0 0 NC_000020.10:g.61988061G>T, NC_000020.10:g.61988061=, NG_011931.1:g.9635C>T, NM_001256573.1:c.-318-294C>T, NC_000020.11:g.63356709G>T, NM_000744.6:c.229-294C>T, NC_000020.10:g.61988061G>A, NC_000020.11:g.63356709G>A, XM_005260190.1:c.-145-5682C>T, XM_011528524.1:c.-379C>T, NC_000020.10:g.61988061G>C, NG_011931.1:g.9635=, rs2273504, XM_005260189.1:c.-85-294C>T, 2273504, NG_011931.1:g.9635C>A, NR_046317.1:n.460-294C>T, NC_000020.11:g.63356709G>C, NC_000020.11:g.63356709=, NG_011931.1:g.9635C>G +PA166155926 rs2273618 PA29349 HNF4A NC_000020.11:44423930 1 1 0 0 0 NM_178850.2:c.893-88T>C, NM_001030003.2:c.827-88T>C, XM_011528797.1:c.941-88T>C, NG_009818.1:g.73130T>C, 3212206, NC_000020.10:g.43052570T>C, XM_005260407.2:c.1010-88T>C, NM_000457.4:c.893-88T>C, XM_005260407.1:c.1010-88T>C, NM_001287182.1:c.818-88T>C, NG_009818.1:g.73130=, rs2273618, 2273618, NM_178849.2:c.893-88T>C, rs3212206, NC_000020.11:g.44423930T>C, NC_000020.10:g.43052570=, NM_175914.4:c.827-88T>C, NM_001030004.2:c.827-88T>C, NM_001258355.1:c.872-88T>C, NM_001287183.1:c.818-88T>C, XM_011528798.1:c.941-88T>C, NC_000020.11:g.44423930=, NM_001287184.1:c.818-88T>C +PA166154790 rs2273623 PA33603 PPM1A NC_000014.9:60298527 1 0 0 0 0 XM_011536867.1:c.*6045A>G, XM_011536868.1:c.*6045A>G, XM_005267780.1:c.*6045A>G, XM_011536866.1:c.*6045A>G, XM_011536864.1:c.*6045A>G, XM_011536869.1:c.*6045A>G, XM_011536865.1:c.*6045A>G, XM_011536882.1:c.*6045A>G, NC_000014.8:g.60765245=, XM_011536860.1:c.*6045A>G, XM_011536861.1:c.*6045A>G, XM_011536863.1:c.*6045A>G, XM_011536881.1:c.*6045A>G, XM_011536862.1:c.*6045A>G, XM_011536880.1:c.*6045A>G, XM_011536878.1:c.*6045A>G, XM_011536877.1:c.*6045A>G, XM_011536857.1:c.*6045A>G, XM_011536858.1:c.*6045A>G, XM_011536875.1:c.*6045A>G, XM_011536859.1:c.*6045A>G, XM_011536876.1:c.*6045A>G, XM_005267777.1:c.*6045A>G, XM_011536872.1:c.*6045A>G, XM_005267778.1:c.*6045A>G, XM_011536873.1:c.*6045A>G, XM_011536870.1:c.*6045A>G, NG_029698.1:g.57776=, XM_005267779.1:c.*6045A>G, 60981666, XM_011536874.1:c.*6045A>G, NC_000014.8:g.60765245A>G, XM_011536879.1:c.*6045A>G, XM_006720179.1:c.*6045A>G, XM_011536871.1:c.*6045A>G, rs60981666, rs2273623, 2273623, NG_029698.1:g.57776A>G, NM_021003.4:c.*6045A>G, XM_011536884.1:c.*6045A>G, NC_000014.9:g.60298527=, XM_011536883.1:c.*6045A>G, NM_177952.2:c.*6045A>G, NC_000014.9:g.60298527A>G, XM_005267781.1:c.*6045A>G +PA166154007 rs2273697 PA116 ABCC2 NC_000010.11:99804058 74 11 0 0 0 rs60620335, XM_006717630.2:c.553G>A, XP_011537593.1:p.Val417Ile, NM_000392.4:c.1249G>A, XR_945604.1:n.1438G>A, XP_006717693.1:p.Val185Ile, 2273697, NG_011798.1:g.26353G>A, NP_000383.2:p.Val417=, XM_005269536.1:c.1249G>A, rs2273697, NG_011798.2:g.26461G>A, NC_000010.10:g.101563815G>A, NC_000010.11:g.99804058=, NP_000383.1:p.Val417Ile, NC_000010.10:g.101563815=, XP_005269593.1:p.Val417Ile, NG_011798.1:g.26353=, XM_006717631.2:c.1249G>A, NG_011798.2:g.26461=, XP_006717694.1:p.Val417Ile, 17216184, XM_011539291.1:c.1249G>A, 60620335, XR_945605.1:n.1440G>A, rs17216184, NC_000010.11:g.99804058G>A, NP_000383.2:p.Val417Ile +PA166182515 rs2273897 NC_000006.12:154962860 1 0 0 0 0 rs2273897, NC_000006.12:g.154962860T>C, 2273897, NC_000006.11:g.155283994T>C, NC_000006.12:g.154962860=, 61038080, NC_000006.11:g.155283994= +PA166154707 rs2274405 PA397 ABCC4 NC_000013.11:95206724 1 0 0 0 0 NM_005845.4:c.969A>G, XM_005254025.1:c.840A>G, NM_001105515.2:c.969A>G, rs17189432, NM_001301829.1:c.969A>G, rs61056777, NG_050651.1:g.99723A>G, rs2274405, NC_000013.11:g.95206724=, 2274405, XP_011519349.1:p.Ser140=, 17189432, 61056777, XM_005254027.1:c.744A>G, XP_005254082.1:p.Ser280=, XP_005254085.1:p.Ser248=, 17854130, NP_001098985.1:p.Ser323=, XP_005254084.1:p.Ser248=, NP_005836.2:p.Ser323=, XP_005254083.1:p.Ser323=, rs118054262, XM_005254028.1:c.744A>G, XM_011521047.1:c.420A>G, NC_000013.10:g.95858978T>C, XP_006719977.1:p.Ser323=, rs17854130, 118054262, NC_000013.11:g.95206724T>C, NP_001288758.1:p.Ser323=, NP_001288759.1:p.Ser248=, XM_005254026.1:c.969A>G, NC_000013.10:g.95858978=, NG_050651.1:g.99723=, NM_001301830.1:c.744A>G, XM_006719914.1:c.969A>G, XM_005254025.2:c.840A>G +PA166154708 rs2274406 PA397 ABCC4 NC_000013.11:95206742 1 0 0 0 0 rs17189439, XM_005254027.1:c.726A>G, 17854129, 9516535, XP_005254082.1:p.Arg274=, NP_001098985.1:p.Arg317=, NG_050651.1:g.99705A>G, XM_005254028.1:c.726A>G, NM_001301829.1:c.951A>G, XP_005254083.1:p.Arg317=, 17189439, NC_000013.11:g.95206742T>A, XP_006719977.1:p.Arg317=, 2274406, rs2274406, NC_000013.11:g.95206742=, NP_005836.2:p.Arg317Ser, XM_005254025.2:c.822A>G, NP_001288758.1:p.Arg317=, 57307333, NM_001301830.1:c.726A>G, rs117829300, XM_006719914.1:c.951A>G, NM_001105515.2:c.951A>G, NM_005845.4:c.951A>G, NP_001288759.1:p.Arg242=, XM_005254026.1:c.951A>G, NP_005836.2:p.Arg317=, NC_000013.10:g.95858996T>C, NC_000013.11:g.95206742T>C, NC_000013.10:g.95858996T>A, rs57307333, XM_011521047.1:c.402A>G, rs9516535, XP_005254084.1:p.Arg242=, XM_005254025.1:c.822A>G, XP_011519349.1:p.Arg134=, XP_005254085.1:p.Arg242=, NC_000013.10:g.95858996=, NG_050651.1:g.99705=, rs17854129, NG_050651.1:g.99705A>T, 117829300 +PA166154709 rs2274407 PA397 ABCC4 NC_000013.11:95206781 14 0 0 0 0 NM_001105515.2:c.912G>T, NC_000013.11:g.95206781C>T, rs117944872, NG_050651.1:g.99666G>T, 58221897, XM_006719914.1:c.912G>T, NC_000013.10:g.95859035=, NC_000013.10:g.95859035C>A, NP_005836.2:p.Lys304Asn, rs2274407, NG_050651.1:g.99666G>A, XP_005254084.1:p.Lys229Asn, NG_050651.1:g.99666G>C, 2274407, XP_005254083.1:p.Lys304Asn, NM_001301829.1:c.912G>T, NC_000013.10:g.95859035C>G, XM_005254026.1:c.912G>T, NC_000013.10:g.95859035C>T, NM_001301830.1:c.687G>T, XM_005254025.2:c.783G>T, XM_005254028.1:c.687G>T, XM_011521047.1:c.363G>T, XP_011519349.1:p.Lys121Asn, XP_005254082.1:p.Lys261Asn, NC_000013.11:g.95206781C>A, NP_001098985.1:p.Lys304Asn, XM_005254025.1:c.783G>T, 117944872, XP_006719977.1:p.Lys304Asn, NG_050651.1:g.99666=, NP_001288758.1:p.Lys304Asn, 52813831, NP_001288759.1:p.Lys229Asn, XP_005254085.1:p.Lys229Asn, rs52813831, NC_000013.11:g.95206781=, NP_005836.2:p.Lys304=, NC_000013.11:g.95206781C>G, XM_005254027.1:c.687G>T, NM_005845.4:c.912G>T, rs58221897 +PA166153689 rs2274567 PA26855 CR1 NC_000001.11:207580276 1 1 0 0 0 NG_007481.1:g.89149=, NP_000642.3:p.His1658Arg, NM_000651.4:c.4973A>G, rs52826014, XP_006711229.1:p.His1663Arg, rs60859711, 60859711, 52826014, XM_011509205.1:c.4988A>G, XM_005273064.1:c.4589A>G, NG_007481.1:g.89149A>G, 2274567, rs2274567, 17047280, XM_006711166.2:c.4988A>G, NC_000001.10:g.207753621A>G, XP_005273121.1:p.His1530Arg, NC_000001.11:g.207580276A>G, rs17047280, NC_000001.11:g.207580276=, NM_000573.3:c.3623A>G, XP_011507507.1:p.His1663Arg, rs3860293, 3860293, NP_000564.2:p.His1208Arg, NP_000642.3:p.His1658=, NC_000001.10:g.207753621= +PA166163147 rs2274639 PA193 HTR2A NC_000013.11:46856128 1 0 0 0 0 NG_013011.1:g.45907=, 2274639, NC_000013.11:g.46856128=, rs2274639, 57735026, NC_000013.11:g.46856128C>G, NC_000013.10:g.47430263=, NC_000013.10:g.47430263C>G, NC_000013.11:g.46856128C>T, NG_013011.1:g.45907G>C, NC_000013.10:g.47430263C>T, NG_013011.1:g.45907G>A +PA166170291 rs2274755 PA30889 MMP9 NC_000020.11:46011053 1 0 0 0 0 rs2274755, NC_000020.10:g.44639692=, 2274755, NC_000020.11:g.46011053=, NC_000020.10:g.44639692G>T, 57856091, NC_000020.11:g.46011053G>T, NG_011468.1:g.7146G>T, NG_011468.1:g.7146= +PA166155997 rs2274808 PA26711 COL18A1 NC_000021.9:45486713 1 0 0 0 0 rs13046404, XM_005261179.1:c.2242-148C>T, NM_130445.3:c.1702-148C>T, rs2274808, NC_000021.8:g.46906627C>T, XM_005261180.1:c.2143-148C>T, 60892202, NC_000021.8:g.46906627=, 2274808, NC_000021.9:g.45486713=, NC_000021.9:g.45486713C>T, NM_130444.2:c.2947-148C>T, XM_005261182.1:c.1678-148C>T, XM_005261181.1:c.1702-148C>T, NM_130445.2:c.1702-148C>T, XM_005261178.1:c.2242-148C>T, NG_011903.1:g.86531C>T, rs60892202, NM_030582.3:c.2242-148C>T, NG_011903.1:g.86531=, 13046404 +PA166161972 rs2274924 PA38479 TRPM6 NC_000009.12:74761731 1 0 0 0 0 NG_017036.1:g.131364A>T, NP_060132.3:p.Lys1584Glu, NC_000009.12:g.74761731T>C, NC_000009.11:g.77376647=, rs2274924, 2274924, NC_000009.12:g.74761731T>A, NP_060132.3:p.Lys1584=, NG_017036.1:g.131364=, NC_000009.11:g.77376647T>A, NG_017036.1:g.131364A>G, 61238454, NC_000009.12:g.74761731=, NC_000009.11:g.77376647T>C, NP_060132.3:p.Lys1584Ter +PA166153690 rs2274976 PA245 MTHFR NC_000001.11:11790870 2 0 0 0 0 XM_011541495.1:c.1901G>A, 386563247, NG_013351.1:g.20234G>A, XM_005263461.3:c.1781G>A, XP_005263520.1:p.Arg512Gln, rs52829200, NP_005948.3:p.Arg594Gln, XM_005263459.1:c.1822-154G>A, XM_005263460.3:c.1781G>A, NC_000001.10:g.11850927=, NM_005957.4:c.1781G>A, 17854807, NC_000001.10:g.11850927C>T, XM_005263462.3:c.1781G>A, NG_013351.1:g.20234=, XP_005263517.1:p.Arg594Gln, NP_005948.3:p.Arg594=, XM_011541496.1:c.1876-154G>A, 58316272, XM_005263461.1:c.1781G>A, XM_005263463.2:c.1535G>A, rs386563247, NC_000001.11:g.11790870=, rs58316272, XM_005263460.1:c.1781G>A, XM_005263462.1:c.1781G>A, XP_005263515.1:p.Arg635Gln, XP_005263519.1:p.Arg594Gln, XM_005263463.1:c.1535G>A, XP_011539797.1:p.Arg634Gln, rs2274976, 52829200, XM_005263458.1:c.1904G>A, XM_005263458.2:c.1904G>A, 2274976, NC_000001.11:g.11790870C>T, XP_005263518.1:p.Arg594Gln, rs17854807 +PA166154008 rs2275112 PA27699,PA38093 EIF3A,SFXN4 NC_000010.11:119158104 1 0 0 0 0 NR_110305.1:n.379-42C>T, NC_000010.11:g.119158104=, NC_000010.10:g.120917616=, XM_005269525.1:c.334-42C>T, XR_246071.1:n.396-42C>T, XM_011539282.1:c.13-42C>T, NC_000010.11:g.119158104G>A, NM_213649.1:c.361-42C>T, XM_005269526.1:c.13-42C>T, XR_945603.1:n.423-42C>T, XM_005269527.1:c.13-42C>T, rs2275112, NC_000010.10:g.120917616G>A, NG_033895.1:g.12589=, 2275112, NG_033895.1:g.12589C>T, XM_005269525.3:c.334-42C>T, XR_246070.1:n.423-42C>T +PA166154009 rs2275622 PA125 CYP2C8 NC_000010.11:95067421 1 0 0 0 0 NC_000010.11:g.95067421T>C, XR_945610.1:n.428-64A>G, rs57064143, NM_001198854.1:c.26-64A>G, NM_001198855.1:c.122-64A>G, 57064143, NM_000770.3:c.332-64A>G, rs17110450, 2275622, NM_001198853.1:c.122-64A>G, 17110450, NG_007972.1:g.7077=, XR_246073.1:n.428-64A>G, NC_000010.10:g.96827178=, NG_007972.1:g.7077A>G, NC_000010.11:g.95067421=, rs2275622, NC_000010.10:g.96827178T>C +PA166157030 rs2275913 PA29794 IL17A NC_000006.12:52186235 4 2 0 0 0 NC_000006.11:g.52051033G>A, NC_000006.11:g.52051033=, NG_033021.1:g.4849=, NG_033021.1:g.4849G>A, NG_033021.1:g.4849G>C, rs60644204, NC_000006.11:g.52051033G>C, NC_000006.12:g.52186235=, 2275913, NC_000006.12:g.52186235G>A, rs2275913, NC_000006.12:g.52186235G>C, NM_002190.2:c.-197G>A, 60644204 +PA166181096 rs2276299 PA389 SLC22A8 NC_000011.10:62998959 1 0 0 0 0 NC_000011.10:g.62998959=, 56625612, NP_004245.2:p.Thr241=, NC_000011.9:g.62766431A>T, NC_000011.9:g.62766431=, rs2276299, 2276299, NC_000011.10:g.62998959A>T, 59212066 +PA166154358 rs2276302 PA29555 HTR3A NC_000011.10:113979418 3 1 0 0 0 NM_001161772.2:c.219+141G>A, NC_000011.10:g.113979418=, NC_000011.10:g.113979418G>C, NC_000011.10:g.113979418G>A, NC_000011.9:g.113850140=, NG_013058.1:g.9344G>A, rs57028479, NC_000011.9:g.113850140G>T, NG_013058.1:g.9344G>C, NG_013058.1:g.9344=, NM_213621.3:c.282+141G>A, NR_046363.1:n.515+141G>A, 57028479, NC_000011.10:g.113979418G>T, 2276302, NC_000011.9:g.113850140G>C, NG_013058.1:g.9344G>T, NC_000011.9:g.113850140G>A, rs2276302, NM_000869.5:c.282+141G>A +PA166154359 rs2276305 PA29556 HTR3B NC_000011.10:113932382 1 0 0 0 0 NM_006028.4:c.462G>A, XP_011541367.1:p.Ala85=, XM_011543065.1:c.255G>A, NC_000011.10:g.113932382=, XM_011543064.1:c.261G>A, XP_011541365.1:p.Ala143=, 118101794, rs2276305, 2276305, XP_011541366.1:p.Ala87=, NP_006019.1:p.Ala154=, NC_000011.9:g.113803104G>A, NC_000011.9:g.113803104G>C, XM_011543063.1:c.429G>A, rs118101794, NG_011483.1:g.32516=, NC_000011.9:g.113803104=, NG_011483.1:g.32516G>T, NC_000011.10:g.113932382G>A, NC_000011.10:g.113932382G>C, NC_000011.9:g.113803104G>T, NG_011483.1:g.32516G>A, NG_011483.1:g.32516G>C, XP_011541368.1:p.Ala143=, NC_000011.10:g.113932382G>T, XM_011543066.1:c.429G>A +PA166154360 rs2276307 PA29556 HTR3B NC_000011.10:113933165 3 1 0 0 0 NM_006028.4:c.696+72A>G, NC_000011.9:g.113803887=, rs60179104, XM_011543065.1:c.489+72A>G, XM_011543063.1:c.663+72A>G, XM_011543064.1:c.495+72A>G, rs2276307, NC_000011.10:g.113933165A>G, 2276307, NC_000011.10:g.113933165=, 60179104, NC_000011.9:g.113803887A>G, XM_011543066.1:c.663+72A>G, NG_011483.1:g.33299A>G, NG_011483.1:g.33299= +PA166155282 rs2276314 PA134888949 C18orf21 NC_000018.10:35977503 1 0 0 0 0 NM_031446.4:c.394A>G, 17858743, NC_000018.9:g.33557466=, NC_000018.10:g.35977503A>T, XM_005258364.3:c.412A>G, rs59707726, NC_000018.10:g.35977503=, NC_000018.9:g.33557466A>T, NC_000018.9:g.33557466A>G, NM_001201474.1:c.130A>G, NM_001201476.1:c.301-1332A>G, 59707726, NC_000018.10:g.35977503A>G, NM_001201475.1:c.130A>G, XM_005258364.1:c.412A>G, NP_113634.3:p.Thr132Ala, rs52824020, NP_113634.3:p.Thr132Ser, XP_005258421.1:p.Thr138Ala, 17845782, 52824020, rs17858743, NP_001188404.1:p.Thr44Ala, rs17845782, NP_113634.3:p.Thr132=, rs2276314, 2276314, NP_001188403.1:p.Thr44Ala +PA166156549 rs2276332 PA24570 ADH1A NC_000004.12:99282290 1 0 0 0 0 rs386563298, 386563298, rs17028805, NC_000004.11:g.100203447A>C, NC_000004.12:g.99282290A>C, rs4147534, 4147534, NC_000004.12:g.99282290=, NC_000004.11:g.100203447=, NM_000667.3:c.828+56T>G, NR_037884.1:n.3790-4505A>C, rs2276332, 2276332, 17028805 +PA166288463 rs2276338 PA24512,PA162391893 ADAM17,IAH1 NC_000002.12:9505660 1 0 0 0 0 rs2276338, 2276338, NG_029873.1:g.55129G>A, NG_029873.1:g.55129=, NC_000002.12:g.9505660C>T, 17590689, 56833357, NC_000002.12:g.9505660=, NC_000002.11:g.9645789=, NC_000002.11:g.9645789C>T +PA166169996 rs2276464 PA27850 ERCC4 NC_000016.10:13949073 1 0 0 0 0 NG_011442.1:g.33917=, NC_000016.9:g.14042930G>A, NC_000016.10:g.13949073G>C, NC_000016.9:g.14042930G>C, rs2276464, 2276464, 57021218, NC_000016.10:g.13949073G>A, NC_000016.10:g.13949073=, NC_000016.9:g.14042930=, NG_011442.1:g.33917G>C, NG_011442.1:g.33917G>A +PA166169998 rs2276466 PA27850 ERCC4 NC_000016.10:13949318 1 0 0 0 0 NC_000016.10:g.13949318C>G, NC_000016.9:g.14043175=, NG_011442.1:g.34162C>A, NC_000016.9:g.14043175C>G, NG_011442.1:g.34162C>G, NG_011442.1:g.34162=, NC_000016.9:g.14043175C>A, NC_000016.10:g.13949318=, NC_000016.10:g.13949318C>A, rs2276466, 2276466 +PA166156351 rs2276706 PA378 NR1I2 NC_000003.12:119782460 2 1 0 0 0 NG_011856.1:g.6977G>A, NC_000003.12:g.119782460G>A, 57903199, XM_005247866.1:c.-188+160G>A, NC_000003.11:g.119501307G>A, NG_011856.1:g.6977=, NM_003889.3:c.-23+160G>A, NM_022002.2:c.-298G>A, NC_000003.12:g.119782460=, 2276706, rs2276706, NC_000003.11:g.119501307=, NM_033013.2:c.-23+160G>A, rs57903199 +PA166156352 rs2276707 PA378 NR1I2 NC_000003.12:119815306 13 2 0 0 0 NG_011856.1:g.39823C>T, NG_011856.1:g.39823=, NR1I2 8055 C > T, NM_022002.2:c.1055-17C>T, NM_033013.2:c.827-17C>T, NM_003889.3:c.938-17C>T, NC_000003.11:g.119534153C>G, rs60905954, NC_000003.12:g.119815306C>G, NC_000003.12:g.119815306=, rs2276707, NC_000003.11:g.119534153C>T, 2276707, NC_000003.11:g.119534153=, 60905954, NC_000003.12:g.119815306C>T, XM_005247866.1:c.773-17C>T, NG_011856.1:g.39823C>G +PA166154710 rs2277438 PA36619 TNFSF11 NC_000013.11:42581032 1 0 0 0 0 NM_033012.3:c.1-94G>A, NC_000013.11:g.42581032G>C, NC_000013.11:g.42581032G>A, rs59207645, NC_000013.10:g.43155168G>C, NC_000013.10:g.43155168G>A, XM_011535280.1:c.1-94G>A, NG_008990.1:g.23297G>C, NG_008990.1:g.23297G>A, 59207645, rs2277438, 2277438, NC_000013.10:g.43155168=, NG_008990.1:g.23297=, NC_000013.11:g.42581032=, NM_003701.3:c.220-94G>A +PA166154539 rs2277869 PA34180,PA33782 RAD52,WNK1 NC_000012.12:907744 2 0 0 0 0 XM_005253733.1:c.7997-103T>C, XM_011520999.1:c.7880-103T>C, 57759990, XM_005253739.1:c.6017-103T>C, XM_005253735.1:c.6755-103T>C, XM_005253741.1:c.5933-103T>C, XM_011521008.1:c.5822-103T>C, NM_213655.4:c.7400-103T>C, XM_011520997.1:c.7883-103T>C, XM_005253742.1:c.5822-103T>C, NM_018979.3:c.6644-103T>C, NM_014823.2:c.5900-103T>C, NC_000012.11:g.1016910=, NC_000012.12:g.907744T>C, XM_005253743.1:c.5537-103T>C, XM_011521009.1:c.5819-103T>C, XM_005253736.1:c.6674-103T>C, XM_011521002.1:c.7421-103T>C, XM_011521005.1:c.6662-103T>C, XM_005253734.1:c.6758-103T>C, XM_011520998.1:c.7880-103T>C, NG_007984.3:g.159686=, rs57759990, XM_011521006.1:c.6560-103T>C, NM_001184985.1:c.7424-103T>C, NC_000012.12:g.907744=, XM_005253740.1:c.5936-103T>C, XM_011521003.1:c.7145-103T>C, XM_006719003.1:c.6641-103T>C, rs2277869, NC_000012.11:g.1016910T>C, 2277869, XM_005253737.1:c.6671-103T>C, XM_011521007.1:c.6557-103T>C, XM_011521001.1:c.7604-103T>C, XM_011521000.1:c.7688-103T>C, NG_007984.2:g.159686T>C, XM_011521004.1:c.7142-103T>C, NG_007984.3:g.159686T>C +PA166163394 rs2277984 PA25897 C3 NC_000019.10:6679500 1 1 0 0 0 NC_000019.10:g.6679500=, NC_000019.9:g.6679511=, 56427391, NC_000019.10:g.6679500C>T, 59298412, NG_009557.1:g.46152=, NG_009557.1:g.46152G>A, NC_000019.9:g.6679511C>T, rs2277984, 2277984 +PA166183817 rs2278060 PA29286 HINT1 NC_000005.10:131165058 2 0 0 0 0 NG_032998.1:g.5291T>G, 2278060, rs2278060, NC_000005.10:g.131165058A>G, NC_000005.9:g.130500751=, NG_032998.1:g.5291=, NC_000005.10:g.131165058=, NC_000005.9:g.130500751A>T, NG_032998.1:g.5291T>A, NG_032998.1:g.5291T>C, NC_000005.10:g.131165058A>C, NC_000005.10:g.131165058A>T, 61128279, NC_000005.9:g.130500751A>C, NC_000005.9:g.130500751A>G +PA166157350 rs2278293 PA29862 IMPDH1 NC_000007.14:128400698 7 1 0 0 0 XM_011516156.1:c.-220G>A, NC_000007.13:g.128040752=, XM_006715967.1:c.579+119G>A, NM_001304521.1:c.372+119G>A, NC_000007.14:g.128400698C>T, XM_005250315.1:c.324+119G>A, XM_011516157.1:c.-220G>A, XM_006715971.1:c.348+119G>A, NM_183243.2:c.471+119G>A, NC_000007.13:g.128040752C>T, XM_005250313.1:c.372+119G>A, 10348032, 60861084, NM_001102605.1:c.549+119G>A, NM_001142573.1:c.324+119G>A, NG_009194.1:g.14285=, XM_005250314.1:c.348+119G>A, 2278293, rs2278293, NM_001142574.1:c.309+134G>A, XM_006715968.1:c.549+119G>A, XM_006715969.1:c.471+119G>A, rs60861084, XM_006715970.2:c.372+119G>A, rs10348032, NC_000007.14:g.128400698=, NM_001142575.1:c.250-159G>A, NM_000883.3:c.579+119G>A, NM_001142576.1:c.480+119G>A, NG_009194.1:g.14285G>A, XM_005250316.1:c.-62+119G>A +PA166157351 rs2278294 PA29862 IMPDH1 NC_000007.14:128400645 7 2 0 0 0 XM_006715969.1:c.472-106G>A, rs58322800, NG_009194.1:g.14338=, XM_005250313.1:c.373-106G>A, XM_005250314.1:c.349-106G>A, XM_006715967.1:c.580-106G>A, NC_000007.13:g.128040699C>T, NM_001142575.1:c.250-106G>A, XM_006715970.2:c.373-106G>A, NC_000007.14:g.128400645C>A, NC_000007.14:g.128400645=, NM_001142574.1:c.310-106G>A, XM_011516156.1:c.-167G>A, 58322800, XM_011516157.1:c.-167G>A, NG_009194.1:g.14338G>A, NC_000007.13:g.128040699C>A, XM_005250316.1:c.-61-106G>A, NM_000883.3:c.580-106G>A, rs2278294, NM_001142576.1:c.481-106G>A, XM_005250315.1:c.325-106G>A, NM_001304521.1:c.373-106G>A, NG_009194.1:g.14338G>T, NC_000007.14:g.128400645C>T, rs386563394, 2278294, NM_001142573.1:c.325-106G>A, NM_001102605.1:c.550-106G>A, NM_183243.2:c.472-106G>A, XM_006715968.1:c.550-106G>A, XM_006715971.1:c.349-106G>A, NC_000007.13:g.128040699=, 386563394 +PA166154361 rs2278749 PA24996 BMAL1 NC_000011.10:13376331 1 0 0 0 0 NM_001178.5:c.1323-309C>T, NC_000011.10:g.13376331C>T, XR_931044.1:n.366+4458G>A, NC_000011.9:g.13397878C>T, NM_001297719.1:c.1326-309C>T, XM_011520110.1:c.1197-309C>T, NM_001030272.2:c.1323-309C>T, 2278749, rs2278749, rs57895902, XM_011520112.1:c.1197-309C>T, NC_000011.9:g.13397878=, XM_006718234.1:c.1197-309C>T, XM_011520108.1:c.1326-309C>T, NM_001030273.2:c.1194-309C>T, XM_011520105.1:c.1323-309C>T, NM_001297722.1:c.1326-309C>T, NC_000011.10:g.13376331=, XM_011520111.1:c.1197-309C>T, XM_005252928.1:c.1323-309C>T, 57895902, XR_931045.1:n.366+4458G>A, XM_005252929.1:c.1326-309C>T, XM_011520113.1:c.1194-309C>T, XM_011520106.1:c.1326-309C>T, XM_011520109.1:c.1326-309C>T, XM_011520107.1:c.1323-309C>T, XM_006718233.2:c.1326-309C>T, XM_005252930.1:c.1326-309C>T, NM_001297724.1:c.1197-309C>T, XR_931046.1:n.366+4458G>A +PA166155676 rs2278773 PA33765 PRKCE NC_000002.12:46185283 1 0 0 0 0 XM_011532977.1:c.*402C>G, NC_000002.12:g.46185283C>G, XM_011532975.1:c.*402C>G, XM_011532979.1:c.*402C>G, XM_011532974.1:c.*402C>G, XM_011532978.1:c.*402C>G, XM_011532976.1:c.*402C>G, XM_005264429.1:c.*402C>G, XM_005264428.1:c.*402C>G, NC_000002.11:g.46412422=, NM_005400.2:c.*402C>G, NC_000002.12:g.46185283=, XM_005264430.1:c.*402C>G, XM_011532980.1:c.*402C>G, XM_011532971.1:c.*402C>G, XM_006712050.2:c.*402C>G, XM_011532970.1:c.*402C>G, XM_011532981.1:c.*402C>G, XM_011532973.1:c.*402C>G, 2278773, rs2278773, NC_000002.11:g.46412422C>G, XM_011532982.1:c.*402C>G, XM_011532972.1:c.*402C>G, XM_011532983.1:c.*402C>G +PA166181827 rs2278992 PA30070 KCNN1 NC_000019.10:17984960 1 0 0 0 0 60338547, NC_000019.10:g.17984960=, NC_000019.9:g.18095769T>A, NC_000019.10:g.17984960T>C, NC_000019.10:g.17984960T>A, NG_029893.1:g.38659T>A, NG_029893.1:g.38659T>C, 2278992, rs2278992, NC_000019.9:g.18095769=, NG_029893.1:g.38659=, NC_000019.9:g.18095769T>C +PA166156794 rs2279020 PA28489 GABRA1 NC_000005.10:161895883 4 1 0 0 0 NC_000005.9:g.161322889G>A, NM_000806.5:c.1059+15G>A, rs2279020, 2279020, NM_001127648.1:c.1059+15G>A, NG_011548.1:g.53693=, NM_001127644.1:c.1059+15G>A, NG_011548.1:g.53693G>A, NC_000005.10:g.161895883G>A, NC_000005.9:g.161322889=, NC_000005.10:g.161895883=, NM_001127643.1:c.1059+15G>A, NM_001127645.1:c.1059+15G>A +PA166179119 rs2279103 PA27001 CTDP1 NC_000018.10:79713127 2 0 0 0 0 NC_000018.10:g.79713127=, NG_007988.1:g.38327=, NP_004706.3:p.Thr340Met, 61656723, NC_000018.10:g.79713127C>T, 2279103, NC_000018.9:g.77473127=, NC_000018.9:g.77473127C>T, rs2279103, NG_007988.1:g.38327C>T, NP_004706.3:p.Thr340= +PA166163760 rs2279199 PA363 UMPS NC_000003.12:124730405 1 1 0 0 0 199469588, rs2279199, NC_000003.12:g.124730405T>C, 57985767, 2279199, NC_000003.12:g.124730405T>G, NC_000003.11:g.124449252=, NC_000003.11:g.124449252T>C, NG_017037.1:g.5040T>C, NC_000003.11:g.124449252T>G, NG_017037.1:g.5040T>G, NC_000003.12:g.124730405=, 17838797, 17843773, NG_017037.1:g.5040= +PA166154362 rs2279238 PA30523,PA31751 MADD,NR1H3 NC_000011.10:47260473 2 1 0 0 0 NC_000011.10:g.47260473C>T, NP_001123573.1:p.Ser99=, XM_005252709.1:c.162C>T, XP_006718179.1:p.Ser54=, XM_005252708.1:c.348C>T, NM_001130101.2:c.297C>T, XM_005252714.1:c.283+494C>T, XP_011518108.1:p.Ser54=, NP_001123574.1:p.Ser54=, XM_006718113.1:c.297C>T, NC_000011.10:g.47260473C>A, XP_005252761.1:p.Ser116=, NM_001130102.2:c.162C>T, NC_000011.9:g.47282024C>A, XM_006718114.2:c.297C>T, XP_005252766.1:p.Ser54=, XM_005252711.1:c.162C>T, XM_005252713.1:c.297C>T, XP_011518107.1:p.Ser99=, NC_000011.9:g.47282024=, XP_006718176.1:p.Ser99=, XP_006718178.1:p.Ser54=, NP_005684.2:p.Ser99Arg, XM_005252707.3:c.297C>T, NC_000011.9:g.47282024C>T, XM_005252706.1:c.297C>T, XM_005252716.1:c.97+494C>T, XP_005252768.1:p.Ser54=, XM_005252715.1:c.232+494C>T, XP_006718175.1:p.Ser99=, XM_005252705.1:c.297C>T, XM_005252715.2:c.232+494C>T, XP_005252769.1:p.Ser99=, XP_005252767.1:p.Ser54=, NG_030392.1:g.17174C>A, NP_005684.2:p.Ser99=, XM_005252704.1:c.348C>T, NM_001251935.1:c.315C>T, NM_005693.3:c.297C>T, XP_005252774.1:p.Ser54=, NC_000011.10:g.47260473=, XM_005252716.2:c.97+494C>T, XM_006718112.1:c.297C>T, XM_006718115.1:c.162C>T, XM_011519806.1:c.162C>T, XM_011519808.1:c.-137-768C>T, rs2279238, XP_006718177.1:p.Ser99=, XP_005252770.1:p.Ser99=, XP_005252764.1:p.Ser99=, 2279238, XM_005252707.1:c.297C>T, XM_005252713.2:c.297C>T, XM_005252717.1:c.162C>T, XM_006718116.1:c.162C>T, XP_005252765.1:p.Ser116=, XM_011519805.1:c.297C>T, NG_030392.1:g.17174=, XM_005252710.1:c.162C>T, NM_001251934.1:c.315C>T, XM_005252718.2:c.97+494C>T, XM_005252712.1:c.297C>T, XP_005252763.1:p.Ser99=, NP_001238863.1:p.Ser105=, NP_001238864.1:p.Ser105=, XM_011519807.1:c.97+494C>T, NG_030392.1:g.17174C>T, XM_005252718.1:c.97+494C>T, XP_005252762.1:p.Ser99= +PA166154363 rs2279287 PA24996 BMAL1 NC_000011.10:13276938 1 0 0 0 0 NM_001297719.1:c.-1248T>C, rs57938888, NC_000011.9:g.13298485T>G, NC_000011.9:g.13298485T>C, XM_011520111.1:c.-1267T>C, NC_000011.9:g.13298485T>A, XM_005252928.1:c.-1248T>C, XM_005252929.1:c.-1248T>C, XM_006718234.1:c.-1393T>C, NM_001297722.1:c.-1193T>C, XM_003846258.2:c.-1423T>C, NM_001178.5:c.-1248T>C, rs2279287, NM_001030272.2:c.-1193T>C, XM_006718233.2:c.-1193T>C, XM_011520108.1:c.-1248T>C, XR_931047.1:n.635A>G, 2279287, NM_001297724.1:c.-1386T>C, NC_000011.10:g.13276938=, NC_000011.10:g.13276938T>G, NC_000011.9:g.13298485=, XM_011520113.1:c.-1448T>C, XM_011520109.1:c.-1067T>C, NC_000011.10:g.13276938T>A, XM_011520110.1:c.-1448T>C, XM_011520112.1:c.-1448T>C, NC_000011.10:g.13276938T>C, NM_001030273.2:c.-1393T>C, XM_005252930.1:c.-1193T>C, 57938888 +PA166155392 rs2279342 PA123 CYP2B6 NC_000019.10:41004222 1 0 0 0 0 XM_005258569.1:c.334+59A>T, XM_005258569.3:c.334+59A>T, XM_006723050.2:c.334+59A>T, XM_011526546.1:c.334+59A>T, XM_011526550.1:c.214+59A>T, rs57852880, NG_007929.1:g.17924=, NG_007929.1:g.17924A>T, XM_005258571.1:c.214+59A>T, NG_007929.1:g.17924A>G, NC_000019.9:g.41510127=, rs2279342, NM_000767.4:c.334+59A>T, NC_000019.9:g.41510127A>T, 2279342, NC_000019.10:g.41004222=, XM_011526547.1:c.334+59A>T, NC_000019.10:g.41004222A>G, 386563438, XM_011526548.1:c.334+59A>T, NC_000019.10:g.41004222A>T, XM_011526549.1:c.-300A>T, NC_000019.9:g.41510127A>G, XM_005258570.1:c.334+59A>T, 57852880, rs386563438 +PA166155393 rs2279343 PA123 CYP2B6 NC_000019.10:41009358 172 25 19 0 0 XP_006723113.1:p.Lys262Arg, NC_000019.10:g.41009358=, XP_005258627.1:p.Lys262Arg, XM_011526546.1:c.785A>G, XM_005258569.1:c.785A>G, NC_000019.9:g.41515263=, XM_011526550.1:c.365-2940A>G, NM_000767.4:c.785A>G, XM_011526548.1:c.485-2940A>G, NG_007929.1:g.23060A>G, XM_005258569.3:c.785A>G, XM_005258571.1:c.365-2940A>G, XP_011524848.1:p.Lys262Arg, 35810856, XM_011526549.1:c.194A>G, XM_011526547.1:c.785A>G, XP_005258626.1:p.Lys262Arg, rs2279343, XM_006723050.2:c.785A>G, 58969230, XP_011524851.1:p.Lys65Arg, NC_000019.9:g.41515263A>G, NG_007929.1:g.23060=, NP_000758.1:p.Lys262=, NC_000019.10:g.41009358A>G, XP_011524849.1:p.Lys262Arg, 28399497, 2279343, NP_000758.1:p.Lys262Arg, XM_005258570.1:c.785A>G +PA166155394 rs2279344 PA123 CYP2B6 NC_000019.10:41009578 2 0 0 0 0 NC_000019.10:g.41009578=, NC_000019.10:g.41009578G>A, XM_011526549.1:c.231+183G>A, XM_011526550.1:c.365-2720G>A, XM_006723050.2:c.822+183G>A, rs57993168, XM_011526547.1:c.822+183G>A, NG_007929.1:g.23280=, NC_000019.9:g.41515483=, XM_005258569.1:c.822+183G>A, XM_005258570.1:c.822+183G>A, NC_000019.9:g.41515483G>A, XM_005258569.3:c.822+183G>A, XM_011526548.1:c.485-2720G>A, 57993168, NG_007929.1:g.23280G>A, XM_011526546.1:c.822+183G>A, 2279344, XM_005258571.1:c.365-2720G>A, rs2279344, rs8192716, NM_000767.4:c.822+183G>A, 8192716 +PA166155395 rs2279345 PA123 CYP2B6 NC_000019.10:41009797 8 1 0 0 0 XM_005258569.1:c.823-197T>C, 41314922, rs28969412, rs45631888, NM_000767.4:c.823-197T>C, NC_000019.10:g.41009797T>A, XM_011526550.1:c.365-2501T>C, NC_000019.10:g.41009797T>C, NC_000019.10:g.41009797T>G, rs111133571, XM_006723050.2:c.823-197T>C, 45631888, 60560431, XM_005258569.3:c.823-197T>C, NC_000019.10:g.41009797=, 52823712, rs60560431, rs17713554, XM_005258570.1:c.823-197T>C, 111133571, XM_011526546.1:c.823-197T>C, XM_011526548.1:c.485-2501T>C, rs52823712, 28969412, NG_007929.1:g.23499T>A, NC_000019.9:g.41515702=, XM_005258571.1:c.365-2501T>C, NC_000019.9:g.41515702T>G, rs41314922, NG_007929.1:g.23499=, 17713554, XM_011526549.1:c.232-197T>C, NC_000019.9:g.41515702T>C, NG_007929.1:g.23499T>C, NC_000019.9:g.41515702T>A, 2279345, NG_007929.1:g.23499T>G, rs2279345, XM_011526547.1:c.823-197T>C +PA166171103 rs2279744 PA30718 MDM2 NC_000012.12:68808800 2 0 0 0 0 NC_000012.12:g.68808800T>G, NG_016708.1:g.5610=, NG_016708.1:g.5610T>G, NC_000012.11:g.69202580T>G, rs2279744, NC_000012.12:g.68808800=, NC_000012.11:g.69202580=, 2279744 +PA166163312 rs2280055 PA31582 NFATC1 NC_000018.10:79457924 1 0 0 0 0 rs2280055, NC_000018.9:g.77217924C>T, NG_029226.1:g.67153=, NC_000018.10:g.79457924C>T, NC_000018.9:g.77217924=, 56827392, NC_000018.10:g.79457924=, NG_029226.1:g.67153C>T, 2280055 +PA166162265 rs2280883 PA201094 FOXP3 NC_000023.11:49252667 1 0 0 0 0 NG_021311.2:g.22203T>C, NC_000023.11:g.49252667T>C, NC_000023.10:g.49109128=, NG_007392.1:g.17161A>G, NC_000023.11:g.49252667=, NC_000023.10:g.49109128T>C, NG_007392.1:g.17161=, 59241800, NG_021311.2:g.22203=, rs2280883, 17328056, 2280883 +PA166304201 rs2281547 PA37404 XDH NC_000002.12:31375957 2 0 0 0 0 NC_000002.12:g.31375957=, NG_008871.2:g.43789A>T, 59583502, NG_008871.2:g.43789A>G, rs2281547, NC_000002.12:g.31375957T>A, NC_000002.11:g.31598823=, 2281547, NC_000002.12:g.31375957T>C, NC_000002.11:g.31598823T>C, NC_000002.11:g.31598823T>A, NG_008871.2:g.43789= +PA166157031 rs2281617 PA164721033,PA31945 IPCEF1,OPRM1 NC_000006.12:154166286 1 1 0 0 0 XM_011535740.1:c.1104+1634G>A, NC_000006.11:g.154487421C>G, XM_005266921.1:c.1104+1634G>A, NM_015553.2:c.1101+1634G>A, NC_000006.12:g.154166286C>T, rs58886669, XM_011535741.1:c.1104+1634G>A, XM_005266920.1:c.1104+1634G>A, XM_005266919.3:c.1104+1634G>A, NG_021208.1:g.160786C>T, XM_005266923.2:c.1101+1634G>A, XM_011535744.1:c.720+1634G>A, 58886669, NG_021208.2:g.160786C>T, XM_005266921.3:c.1104+1634G>A, XM_011535739.1:c.1104+1634G>A, NM_001130699.1:c.1104+1634G>A, NM_001130700.1:c.1104+1634G>A, NC_000006.11:g.154487421=, XM_005266922.3:c.1104+1634G>A, NG_021208.2:g.160786C>G, XM_005266923.1:c.1101+1634G>A, NM_001008503.2:c.1164+74814C>T, XM_011535742.1:c.1101+1634G>A, NC_000006.11:g.154487421C>T, XM_005266920.3:c.1104+1634G>A, XM_005266922.1:c.1104+1634G>A, rs2281617, NG_021208.2:g.160786=, XM_005266919.1:c.1104+1634G>A, 2281617, NC_000006.12:g.154166286=, NC_000006.12:g.154166286C>G +PA166157032 rs2282143 PA329 SLC22A1 NC_000006.12:160136611 6 1 0 0 0 2282143, NC_000006.12:g.160136611C>T, XM_011536074.1:c.446C>T, rs2282143, NC_000006.11:g.160557643C>G, NP_003048.1:p.Pro341Leu, XM_006715552.1:c.1022C>T, NC_000006.11:g.160557643=, XP_005267160.1:p.Pro341Leu, NC_000006.12:g.160136611C>G, NC_000006.11:g.160557643C>T, XP_005267159.1:p.Pro341Leu, NP_003048.1:p.Pro341=, XP_005267162.1:p.Pro149Leu, NC_000006.12:g.160136611=, XM_005267105.3:c.446C>T, XP_006715615.1:p.Pro341Leu, XM_005267104.3:c.446C>T, XM_005267105.1:c.446C>T, 56860747, XM_005267102.1:c.1022C>T, XM_005267103.1:c.1022C>T, rs56860747, NM_003057.2:c.1022C>T, NP_694857.1:p.Pro341Leu, XM_005267102.3:c.1022C>T, XP_005267161.1:p.Pro149Leu, NP_003048.1:p.Pro341Arg, XP_011534376.1:p.Pro149Leu, XM_005267104.1:c.446C>T, NM_153187.1:c.1022C>T +PA166160158 rs2282490 PA36196 STIP1 NC_000011.10:64194680 1 0 0 0 0 rs2282490, 2282490, 61511903, NC_000011.10:g.64194680=, NC_000011.10:g.64194680T>C, NC_000011.9:g.63962152=, NC_000011.9:g.63962152T>C, 17462937 +PA166157352 rs2282966 PA28992 GRM3 NC_000007.14:86846351 1 0 0 0 0 NC_000007.14:g.86846351=, XM_005250286.1:c.2392-4019G>A, rs7804100, 10365080, rs2282966, 2282966, XM_005250288.1:c.1325-4019G>A, 7804100, NC_000007.14:g.86846351G>A, XM_011516088.1:c.1325-4019G>A, XM_005250289.1:c.1168-4019G>A, rs10365080, XM_005250287.1:c.2008-4019G>A, NC_000007.13:g.86475667=, NC_000007.13:g.86475667G>A, NM_000840.2:c.2392-4019G>A +PA166154364 rs2283265 PA27478 DRD2 NC_000011.10:113414814 11 5 0 0 0 2283265, rs2283265, NM_000795.3:c.724-353G>T, NC_000011.10:g.113414814C>A, NG_008841.1:g.65466G>T, 60749713, NM_016574.3:c.723+607G>T, XM_005271426.1:c.721-353G>T, NC_000011.10:g.113414814=, NC_000011.9:g.113285536C>A, NG_008841.1:g.65466=, rs2734840, rs60749713, 2734840, NC_000011.9:g.113285536=, XM_005271425.1:c.724-353G>T +PA166154540 rs2283271 PA83 CACNA1C NC_000012.12:2073132 1 0 0 0 0 XM_005253765.1:c.140-42092T>A, 57218195, XM_005253774.1:c.49+19521T>A, rs2283271, XM_005253767.1:c.49+19521T>A, XM_005253771.1:c.49+19521T>A, 2283271, NC_000012.11:g.2182298T>A, NM_001129832.1:c.49+19521T>A, NM_001167625.1:c.49+19521T>A, NM_001129846.1:c.49+19521T>A, NM_001129839.1:c.49+19521T>A, XM_005253781.1:c.49+19521T>A, XM_005253784.1:c.49+19521T>A, NM_001129836.1:c.49+19521T>A, XM_011521023.1:c.49+19521T>A, NC_000012.12:g.2073132T>A, NM_001129842.1:c.49+19521T>A, NM_001129833.1:c.49+19521T>A, NM_001129829.1:c.49+19521T>A, NM_001129830.1:c.49+19521T>A, XM_005253778.1:c.49+19521T>A, XM_005253782.1:c.49+19521T>A, XM_005253770.1:c.49+19521T>A, XM_011521021.1:c.49+19521T>A, XM_005253787.1:c.49+19521T>A, NM_001129838.1:c.49+19521T>A, XM_005253785.1:c.49+19521T>A, XM_005253773.1:c.49+19521T>A, NC_000012.12:g.2073132=, NM_001129835.1:c.49+19521T>A, NM_001167623.1:c.49+19521T>A, NC_000012.11:g.2182298=, NM_199460.3:c.49+19521T>A, rs17801062, NM_001129844.1:c.49+19521T>A, NG_008801.2:g.107347T>A, NM_001129837.1:c.49+19521T>A, XM_005253786.1:c.49+19521T>A, NM_001129830.2:c.49+19521T>A, NG_008801.2:g.107347=, NM_001129834.1:c.49+19521T>A, NM_001129841.1:c.49+19521T>A, XM_005253779.1:c.49+19521T>A, XM_005253776.1:c.49+19521T>A, NM_000719.6:c.49+19521T>A, XM_006719017.1:c.140-42092T>A, rs57218195, NM_001129827.1:c.49+19521T>A, XM_011521018.1:c.-1070+19521T>A, XM_005253766.1:c.49+19521T>A, XM_005253772.1:c.49+19521T>A, XM_005253775.1:c.49+19521T>A, XM_005253769.1:c.49+19521T>A, 17801062, XM_011521020.1:c.140-42092T>A, XM_005253768.1:c.49+19521T>A, NM_001129840.1:c.49+19521T>A, NM_001129843.1:c.49+19521T>A, XM_011521022.1:c.49+19521T>A, XM_005253777.1:c.49+19521T>A, NM_001129831.1:c.49+19521T>A, NM_001167624.2:c.49+19521T>A, XM_005253780.1:c.49+19521T>A, XM_005253783.1:c.49+19521T>A +PA166156093 rs2284017 PA26016 CACNG2 NC_000022.11:36700882 2 1 0 0 0 59651854, NC_000022.11:g.36700882T>C, rs59651854, NC_000022.10:g.37096927=, NG_031861.2:g.6977=, NC_000022.10:g.37096927T>C, NG_031861.1:g.6764A>G, NG_031861.2:g.6977A>G, NM_006078.3:c.211+1484A>G, 2284017, rs2284017, NC_000022.11:g.36700882= +PA166156094 rs2284018 PA26016 CACNG2 NC_000022.11:36701519 1 1 0 0 0 NC_000022.11:g.36701519C>T, NC_000022.10:g.37097564C>T, NG_031861.2:g.6340=, NG_031861.2:g.6340G>A, 2284018, rs2284018, NC_000022.11:g.36701519C>G, NC_000022.11:g.36701519=, rs60303363, NG_031861.2:g.6340G>C, NG_031861.1:g.6127G>A, 60303363, NC_000022.10:g.37097564=, NM_006078.3:c.211+847G>A, NC_000022.10:g.37097564C>G +PA166157353 rs2284220 PA26875 CRHR2 NC_000007.14:30678487 3 1 0 0 0 NM_001202481.1:c.187+3428C>T, XM_011515127.1:c.229+3428C>T, NC_000007.14:g.30678487G>A, 2284220, XM_011515128.1:c.229+3428C>T, 59857794, rs2284220, NC_000007.13:g.30718103=, NM_001202483.1:c.229+3428C>T, XR_242065.1:n.474+3428C>T, NG_029169.1:g.26617=, NM_001202482.1:c.229+3428C>T, NC_000007.13:g.30718103G>A, XM_011515129.1:c.229+3428C>T, NG_029169.1:g.26617C>T, rs59857794, NM_001202475.1:c.310+3428C>T, NC_000007.14:g.30678487=, NM_001883.4:c.229+3428C>T +PA166160424 rs2284411 PA28980 GRIN2B NC_000012.12:13713238 1 0 0 0 0 NC_000012.12:g.13713238C>T, NC_000012.11:g.13866172=, NG_031854.2:g.273775G>A, NC_000012.12:g.13713238=, NC_000012.11:g.13866172C>T, NG_031854.2:g.273775=, rs2284411, 2284411, 57185539 +PA166154365 rs2284449 PA298 RRM1 NC_000011.10:4099619 1 1 0 0 0 rs52806873, NC_000011.10:g.4099619=, rs2284449, NG_027992.2:g.9926=, 2284449, XM_005253058.1:c.20-2374T>C, XM_011520277.1:c.-94-2374T>C, NC_000011.9:g.4120849=, XM_005253059.1:c.-94-2374T>C, 52806873, NM_001033.4:c.20-2374T>C, NM_001033.3:c.20-2374T>C, NM_001318064.1:c.-94-2374T>C, NC_000011.9:g.4120849T>C, NC_000011.10:g.4099619T>C, NG_027992.2:g.9926T>C +PA166179817 rs2284922 PA34445 RNF8 NC_000006.12:37381257 1 1 0 0 0 NC_000006.11:g.37349033G>A, NC_000006.12:g.37381257=, rs2284922, 58505952, NC_000006.11:g.37349033=, 2284922, NP_003949.1:p.Thr448=, NC_000006.12:g.37381257G>A, 17850207, 17511586 +PA166255101 rs2285666 PA425 ACE2 NC_000023.11:15592225 2 0 0 0 0 rs2285666, NG_012575.1:g.14845=, NG_012575.1:g.14845G>T, NC_000023.10:g.15610348C>T, 60695805, NG_012575.2:g.14934G>T, 2285666, NC_000023.11:g.15592225C>G, NC_000023.11:g.15592225C>A, NG_012575.1:g.14845G>C, NG_012575.2:g.14934=, NC_000023.10:g.15610348C>A, NG_012575.1:g.14845G>A, NC_000023.10:g.15610348=, NC_000023.10:g.15610348C>G, NC_000023.11:g.15592225=, NC_000023.11:g.15592225C>T, NG_012575.2:g.14934G>C, NG_012575.2:g.14934G>A +PA166232246 rs2285906 PA28984 GRIN3B NC_000019.10:1008684 1 0 0 0 0 NC_000019.9:g.1008683=, 2285906, NC_000019.9:g.1008683G>A, NP_619635.1:p.Ala845Thr, rs2285906, NP_619635.1:p.Ala845=, NC_000019.10:g.1008684=, NC_000019.10:g.1008684G>A +PA166232247 rs2285907 PA28984 GRIN3B NC_000019.10:1008880 1 0 0 0 0 2285907, NC_000019.10:g.1008880G>A, NC_000019.10:g.1008880G>T, rs2285907, NC_000019.10:g.1008880G>C, NC_000019.9:g.1008879=, NC_000019.9:g.1008879G>A, NP_619635.1:p.Thr885=, NC_000019.10:g.1008880=, NC_000019.9:g.1008879G>C, NC_000019.9:g.1008879G>T +PA166154541 rs2286007 PA33782 WNK1 NC_000012.12:862125 1 0 0 0 0 XM_005253739.1:c.1994C>T, NP_055638.2:p.Thr665Ile, XM_005253738.1:c.1994C>T, XM_005253735.1:c.1994C>T, XP_005253792.1:p.Thr665Ile, XM_005253736.1:c.1994C>T, XP_011519307.1:p.Thr258Ile, 52827764, XM_005253737.1:c.1994C>T, NP_001171914.1:p.Thr665Ile, NM_213655.4:c.1994C>T, XM_011520999.1:c.1994C>T, XM_011521005.1:c.773C>T, NC_000012.11:g.971291C>G, XP_011519302.1:p.Thr665Ile, XP_005253797.1:p.Thr665Ile, XP_011519310.1:p.Thr665Ile, 60549230, NM_014823.2:c.1994C>T, NP_998820.3:p.Thr665Ile, NP_998820.3:p.Thr665=, NC_000012.11:g.971291C>T, XP_011519308.1:p.Thr665Ile, XM_005253740.1:c.1994C>T, XM_005253743.1:c.773C>T, XP_005253793.1:p.Thr665Ile, XP_011519299.1:p.Thr665Ile, XP_011519303.1:p.Thr665Ile, XM_005253741.1:c.1994C>T, XM_005253742.1:c.1994C>T, XP_005253800.1:p.Thr258Ile, NG_007984.3:g.114067C>G, XM_005253734.1:c.1994C>T, XP_005253798.1:p.Thr665Ile, XM_005253733.1:c.1994C>T, NG_007984.2:g.114067C>T, NM_001184985.1:c.1994C>T, rs2286007, 2286007, XP_011519300.1:p.Thr665Ile, XP_005253794.1:p.Thr665Ile, XP_011519305.1:p.Thr665Ile, NG_007984.3:g.114067C>T, XP_005253799.1:p.Thr665Ile, rs52827764, NM_018979.3:c.1994C>T, NP_061852.3:p.Thr665Ile, NC_000012.11:g.971291=, 386563627, rs386563627, XP_011519309.1:p.Thr665Ile, XP_006719066.1:p.Thr665Ile, rs60549230, NG_007984.3:g.114067=, XP_005253790.1:p.Thr665Ile, XP_005253795.1:p.Thr665Ile, NC_000012.12:g.862125=, XM_006719003.1:c.1994C>T, XP_011519304.1:p.Thr665Ile, XM_011521009.1:c.1994C>T, NC_000012.12:g.862125C>T, XP_011519306.1:p.Thr665Ile, XM_011521008.1:c.1994C>T, XP_011519301.1:p.Thr665Ile, XM_011521007.1:c.1994C>T, XM_011521004.1:c.1994C>T, XM_011521006.1:c.1994C>T, XM_011521001.1:c.1994C>T, NP_998820.3:p.Thr665Arg, XM_011520998.1:c.1994C>T, XM_011521000.1:c.1994C>T, XM_011521002.1:c.1994C>T, XP_005253791.1:p.Thr665Ile, XP_005253796.1:p.Thr665Ile, NC_000012.12:g.862125C>G, XM_011520997.1:c.1994C>T, XM_011521003.1:c.1994C>T, XP_011519311.1:p.Thr665Ile +PA166153563 rs228642 PA33186 PER3 NC_000001.11:7803233 1 0 0 0 0 NM_001289861.1:c.979+80C>T, rs61499895, XM_005263527.1:c.631+80C>T, XM_005263525.1:c.979+80C>T, rs495046, NC_000001.10:g.7863293C>T, XM_011542386.1:c.979+80C>T, XM_011542385.1:c.979+80C>T, 228642, XM_005263523.1:c.979+80C>T, XM_005263523.2:c.979+80C>T, NM_016831.2:c.976+80C>T, 495046, NM_001289862.1:c.979+80C>T, XM_005263521.2:c.979+80C>T, XM_005263529.1:c.454+80C>T, XM_011542388.1:c.631+80C>T, XM_005263530.1:c.8-459C>T, XM_005263526.1:c.979+80C>T, rs228642, NC_000001.11:g.7803233C>T, XM_005263521.1:c.979+80C>T, XM_005263529.2:c.454+80C>T, NM_001289864.1:c.22+80C>T, XM_005263528.1:c.628+80C>T, XM_011542390.1:c.979+80C>T, NC_000001.10:g.7863293=, XM_005263524.1:c.979+80C>T, XM_011542387.1:c.811+80C>T, XM_005263524.2:c.979+80C>T, 61499895, NG_046850.1:g.23854C>T, NM_001289863.1:c.979+80C>T, XM_005263522.2:c.976+80C>T, XM_011542384.1:c.979+80C>T, NC_000001.11:g.7803233=, XM_005263522.1:c.976+80C>T, NG_046850.1:g.23854=, XM_005263520.1:c.979+80C>T, XM_011542389.1:c.616+80C>T +PA166156550 rs2286455 PA33807 PROM1 NC_000004.12:16018539 2 0 0 0 0 XM_011513901.1:c.786G>A, XM_011513890.1:c.786G>A, XP_011512194.1:p.Ala262=, XP_011512196.1:p.Ala262=, XP_011512201.1:p.Ala253=, XM_005248195.3:c.759G>A, XM_005248196.1:c.759G>A, XP_011512193.1:p.Ala262=, XP_011512197.1:p.Ala262=, XP_011512192.1:p.Ala262=, XP_011512198.1:p.Ala262=, NC_000004.12:g.16018539=, XP_011512199.1:p.Ala262=, XP_005248252.1:p.Ala253=, XM_011513896.1:c.786G>A, NG_011696.1:g.70462G>A, NP_001139323.1:p.Ala253=, XM_011513893.1:c.786G>A, XM_011513904.1:c.513G>A, NG_011696.2:g.70521G>A, NC_000004.11:g.16020162C>T, XP_005248253.1:p.Ala253=, NM_001145851.1:c.759G>A, XM_006713974.2:c.552G>A, XP_011512195.1:p.Ala262=, XP_011512203.1:p.Ala262=, XP_011512202.1:p.Ala262=, XP_011512204.1:p.Ala262=, XP_011512205.1:p.Ala193=, NP_001139324.1:p.Ala253=, XM_011513892.1:c.786G>A, XM_011513902.1:c.786G>A, 56605149, 2286455, NG_011696.2:g.70521=, NC_000004.12:g.16018539C>T, XM_011513891.1:c.786G>A, XM_011513898.1:c.786G>A, rs60672150, XM_005248194.1:c.786G>A, XM_005248195.1:c.759G>A, XM_011513899.1:c.759G>A, XP_011512200.1:p.Ala262=, NP_001139319.1:p.Ala253=, NP_001139321.1:p.Ala262=, NP_006008.1:p.Ala262=, NP_001139322.1:p.Ala262=, XM_011513897.1:c.786G>A, NC_000004.11:g.16020162=, NM_001145852.1:c.759G>A, NM_001145849.1:c.786G>A, XM_005248196.3:c.759G>A, XM_011513903.1:c.579G>A, NM_006017.2:c.786G>A, XP_006714037.1:p.Ala184=, NM_001145850.1:c.786G>A, XP_011512206.1:p.Ala171=, NP_001139320.1:p.Ala253=, XM_011513895.1:c.786G>A, NG_011696.1:g.70462=, NM_001145848.1:c.759G>A, rs2286455, XM_011513900.1:c.786G>A, XM_011513894.1:c.786G>A, XP_005248251.1:p.Ala262=, 60672150, rs56605149, NM_001145847.1:c.759G>A +PA166156551 rs2286461 PA162388435 FGFBP2 NC_000004.12:15962050 1 0 0 0 0 NC_000004.12:g.15962050G>A, 386563644, NC_000004.12:g.15962050G>C, NC_000004.12:g.15962050=, rs17760443, rs61559848, rs2286461, 2286461, NC_000004.11:g.15963673=, NM_031950.3:c.*20+388C>T, 17760443, 61559848, NC_000004.11:g.15963673G>C, NC_000004.11:g.15963673G>A, rs386563644 +PA166153564 rs228666 PA33186 PER3 NC_000001.11:7808665 1 0 0 0 0 NM_001289863.1:c.1137-228T>C, XM_011542385.1:c.1137-228T>C, XM_005263522.1:c.1134-228T>C, rs505519, XM_005263525.1:c.1137-228T>C, NC_000001.10:g.7868725=, NC_000001.10:g.7868725T>C, NC_000001.11:g.7808665=, 505519, XM_005263529.2:c.612-228T>C, XM_011542388.1:c.789-228T>C, XM_005263529.1:c.612-228T>C, 228666, XM_005263521.2:c.1137-228T>C, XM_005263530.1:c.165-228T>C, XM_011542384.1:c.1137-228T>C, XM_005263524.2:c.1137-228T>C, XM_011542387.1:c.969-228T>C, NM_001289861.1:c.1137-228T>C, NG_046850.1:g.29286=, XM_005263526.1:c.1137-228T>C, XM_005263520.1:c.1137-228T>C, XM_005263523.1:c.1137-228T>C, rs228666, NC_000001.11:g.7808665T>A, NM_016831.2:c.1134-228T>C, NC_000001.11:g.7808665T>C, NG_046850.1:g.29286T>A, NG_046850.1:g.29286T>C, XM_005263521.1:c.1137-228T>C, XM_005263528.1:c.786-228T>C, XM_011542390.1:c.1137-228T>C, XM_005263522.2:c.1134-228T>C, rs9434531, 9434531, NC_000001.10:g.7868725T>A, NM_001289862.1:c.1137-228T>C, XM_005263524.1:c.1137-228T>C, NM_001289864.1:c.180-228T>C, XM_005263523.2:c.1137-228T>C, XM_005263527.1:c.789-228T>C, XM_011542389.1:c.774-228T>C, XM_011542386.1:c.1137-228T>C +PA166153565 rs228697 PA33186 PER3 NC_000001.11:7827519 1 0 0 0 0 XM_005263524.1:c.2590C>G, XP_005263579.1:p.Pro863Ala, rs228697, XM_005263525.1:c.2590C>G, XM_011542388.1:c.2242C>G, NM_016831.2:c.2566C>G, XP_005263581.1:p.Pro864Ala, NP_001276790.1:p.Pro864Ala, XM_005263520.1:c.2590C>G, XM_005263523.1:c.2569C>G, XM_005263522.2:c.2587C>G, XP_005263583.1:p.Pro857Ala, XM_011542389.1:c.2227C>G, XP_011540692.1:p.Pro857Ala, XM_011542387.1:c.2422C>G, NC_000001.11:g.7827519C>G, XP_005263578.1:p.Pro864Ala, NP_001276792.1:p.Pro857Ala, XM_005263521.2:c.2590C>G, 480069, XP_011540688.1:p.Pro857Ala, XM_005263529.1:c.2065C>G, XM_005263523.2:c.2569C>G, XP_011540689.1:p.Pro808Ala, XP_005263584.1:p.Pro748Ala, 52826465, XM_005263524.2:c.2590C>G, XP_005263586.1:p.Pro689Ala, NM_001289864.1:c.1633C>G, XM_005263526.1:c.2569C>G, XP_005263580.1:p.Pro857Ala, XM_005263529.2:c.2065C>G, NM_001289861.1:c.2590C>G, XM_005263527.1:c.2242C>G, XP_011540690.1:p.Pro748Ala, NM_001289862.1:c.2590C>G, XM_011542386.1:c.2569C>G, XP_011540686.1:p.Pro864Ala, rs480069, XP_011540691.1:p.Pro743Ala, NG_046850.1:g.48140C>G, XM_011542385.1:c.2590C>G, XM_011542384.1:c.2590C>G, NG_046850.1:g.48140=, XM_005263528.1:c.2239C>G, XM_005263530.1:c.1618C>G, NP_058515.1:p.Pro856=, XP_005263587.1:p.Pro540Ala, NP_001276791.1:p.Pro864Ala, XP_005263585.1:p.Pro747Ala, rs52826465, XP_005263582.1:p.Pro864Ala, NP_001276793.1:p.Pro545Ala, XM_005263522.1:c.2587C>G, NP_058515.1:p.Pro856Ala, NC_000001.10:g.7887579=, 228697, XM_011542390.1:c.2569C>G, XP_011540687.1:p.Pro864Ala, XP_005263577.1:p.Pro864Ala, XM_005263521.1:c.2590C>G, NC_000001.11:g.7827519=, NC_000001.10:g.7887579C>G, NM_001289863.1:c.2569C>G +PA166153566 rs228729 PA33186 PER3 NC_000001.11:7785635 1 0 0 0 0 NM_001289862.1:c.274+49T>C, XM_011542389.1:c.30+49T>C, XM_011542387.1:c.106+49T>C, NG_046850.1:g.6256=, XM_005263523.1:c.274+49T>C, XM_005263521.2:c.274+49T>C, XM_011542390.1:c.274+49T>C, NG_046850.1:g.6256T>C, XM_005263521.1:c.274+49T>C, 59093461, XM_005263523.2:c.274+49T>C, XM_011542384.1:c.274+49T>C, XM_011542386.1:c.274+49T>C, XM_011542388.1:c.42+49T>C, XM_005263524.1:c.274+49T>C, XM_005263524.2:c.274+49T>C, NC_000001.10:g.7845695=, rs228729, XM_005263526.1:c.274+49T>C, XM_005263529.2:c.-1386T>C, NC_000001.11:g.7785635=, 548576, NM_016831.2:c.274+49T>C, XM_005263522.2:c.274+49T>C, XM_005263522.1:c.274+49T>C, XM_005263527.1:c.42+49T>C, rs548576, NM_001289861.1:c.274+49T>C, XM_011542385.1:c.274+49T>C, XM_005263520.1:c.274+49T>C, 228729, NC_000001.11:g.7785635T>C, NM_001289863.1:c.274+49T>C, XM_005263529.1:c.-1386T>C, NC_000001.10:g.7845695T>C, XM_005263525.1:c.274+49T>C, NM_001289864.1:c.-745+49T>C, XM_005263528.1:c.42+49T>C, 3830165, rs59093461, rs3830165 +PA166156795 rs2287584 PA142671060 DROSHA NC_000005.10:31422900 1 0 0 0 0 XP_005248350.1:p.Pro1071=, XM_005248291.2:c.3306A>G, NM_013235.4:c.3306A>G, XP_005248349.1:p.Pro1094=, rs57044049, NC_000005.9:g.31423007=, 57044049, NC_000005.10:g.31422900T>C, NG_051574.1:g.114276A>G, NP_001093882.1:p.Pro1065=, XP_005248351.1:p.Pro1034=, NM_001100412.1:c.3195A>G, XM_005248291.1:c.3306A>G, NC_000005.10:g.31422900=, NC_000005.9:g.31423007T>C, XM_011514033.1:c.3306A>G, rs2287584, XM_005248293.2:c.3213A>G, XM_005248294.2:c.3102A>G, 2287584, XP_005248348.1:p.Pro1102=, XM_005248292.2:c.3282A>G, XM_005248292.1:c.3282A>G, XM_005248293.1:c.3213A>G, XM_005248294.1:c.3102A>G, NP_037367.3:p.Pro1102=, NG_051574.1:g.114276=, XP_011512335.1:p.Pro1102= +PA166155677 rs2287622 PA374 ABCB11 NC_000002.12:168973818 5 0 0 0 0 XM_011512077.1:c.1433T>C, NG_007374.1:g.62506T>G, NP_003733.2:p.Val444Asp, 52815003, NG_007374.1:g.62506T>C, XP_011510380.1:p.Val478Ala, NG_007374.1:g.62506T>A, NM_003742.2:c.1331T>C, rs117344152, NC_000002.12:g.168973818A>T, XM_011512078.1:c.1433T>C, XM_011512079.1:c.1433T>C, XM_006712817.2:c.1373T>C, NP_003733.2:p.Val444Gly, NC_000002.12:g.168973818A>C, NG_007374.2:g.62579T>G, NP_003733.2:p.Val444=, rs52815003, NC_000002.12:g.168973818=, NC_000002.12:g.168973818A>G, XP_011510379.1:p.Val478Ala, NG_007374.2:g.62579=, NC_000002.11:g.169830328=, rs60464808, NC_000002.11:g.169830328A>G, 386563695, NG_007374.1:g.62506=, NG_007374.2:g.62579T>C, NP_003733.2:p.Val444Ala, XP_006712880.1:p.Val458Ala, NC_000002.11:g.169830328A>T, XM_005246930.1:c.-2149T>C, XP_011510381.1:p.Val478Ala, rs2287622, 2287622, NG_007374.2:g.62579T>A, 60464808, XM_011512080.1:c.1433T>C, XP_011510382.1:p.Val478Ala, 117344152, NC_000002.11:g.169830328A>C, XM_011512081.1:c.-2149T>C, rs386563695 +PA166160028 rs2288344 PA31533 NEDD4 NC_000015.10:55830149 1 1 0 0 0 NG_051072.1:g.168598=, NC_000015.9:g.56122347T>G, NC_000015.10:g.55830149=, NG_051072.1:g.168598A>G, NC_000015.9:g.56122347T>C, NC_000015.10:g.55830149T>C, NC_000015.9:g.56122347=, NG_051072.1:g.168598A>C, 2288344, NC_000015.10:g.55830149T>G, rs2288344, 57212916 +PA166155678 rs2288586 PA203 IRS1 NC_000002.12:226790674 1 0 0 0 0 NC_000002.12:g.226790674G>C, NG_015830.1:g.13117C>G, rs59614467, rs60459686, 2288586, NG_015830.1:g.13117=, rs2288586, NM_005544.2:c.*21+4315C>G, 56503096, NC_000002.11:g.227655390=, NC_000002.12:g.226790674=, 59614467, NC_000002.11:g.227655390G>C, rs56503096, 60459686 +PA166154542 rs2289030 PA164722738 MIR492 NC_000012.12:94834510 1 0 0 0 0 NC_000012.11:g.95228286G>C, rs59816854, rs2289030, NC_000012.12:g.94834510G>C, NR_036685.1:n.57G>C, 59816854, NC_000012.12:g.94834510=, 2289030, NR_030171.1:n.113G>C, NC_000012.11:g.95228286= +PA166154884 rs2289105 PA27091 CYP19A1 NC_000015.10:51215311 2 1 0 0 0 XM_005254190.1:c.859-79A>G, NC_000015.10:g.51215311=, NM_031226.2:c.859-79A>G, rs17601199, NC_000015.10:g.51215311T>A, NG_007982.1:g.128288A>T, NC_000015.10:g.51215311T>C, XM_005254191.1:c.859-79A>G, NG_007982.1:g.128288A>C, rs57755827, 2289105, rs2289105, XM_005254192.1:c.682-79A>G, 17601199, NC_000015.9:g.51507508=, NM_000103.3:c.859-79A>G, NG_007982.1:g.128288A>G, NC_000015.9:g.51507508T>G, NC_000015.10:g.51215311T>G, NG_007982.1:g.128288=, NC_000015.9:g.51507508T>C, 57755827, NC_000015.9:g.51507508T>A, XR_932222.1:n.99-62672T>C +PA166170089 rs2289252 PA27941 F11 NC_000004.12:186286227 1 1 0 0 0 NC_000004.12:g.186286227=, NC_000004.11:g.187207381=, NG_008051.1:g.25264=, NG_008051.1:g.25264C>T, rs2289252, 2289252, NC_000004.12:g.186286227C>T, NC_000004.11:g.187207381C>T +PA166154010 rs2289310 PA27360 DLG5 NC_000010.11:77811115 1 1 0 0 0 NC_000010.10:g.79570873G>C, XM_011546580.1:c.3524C>A, NC_000010.10:g.79570873G>A, NC_000010.11:g.77811115G>C, XP_011544882.1:p.Pro1175Gln, NC_000010.11:g.77811115G>A, XP_006718119.1:p.Pro1141Gln, NP_004738.3:p.Pro1481Gln, XM_011540342.1:c.4172C>A, XM_006725120.2:c.4430C>A, XM_011546575.1:c.4265C>A, NP_004738.3:p.Pro1481Leu, XM_005270276.1:c.4430C>A, XP_011538644.1:p.Pro1391Gln, NC_000010.10:g.79570873G>T, NC_000010.10:g.79570873=, NG_011484.1:g.120476C>G, XM_011540344.1:c.4106C>A, XP_011538643.1:p.Pro1422Gln, NT_187580.1:g.49807G>T, XP_011538647.1:p.Pro1326Gln, XP_006725185.1:p.Pro1141Gln, XP_011538645.1:p.Pro1371Gln, NG_011484.1:g.120476C>T, XM_011540347.1:c.3524C>A, NC_000010.11:g.77811115G>T, XP_011544877.1:p.Pro1422Gln, XP_011544881.1:p.Pro1481Gln, NG_011484.1:g.120476C>A, XM_011540343.1:c.4112C>A, XM_011546579.1:c.4442C>A, 2289310, NG_011484.1:g.120476=, rs2289310, XM_011546577.1:c.4106C>A, NC_000010.11:g.77811115=, XP_011538649.1:p.Pro1175Gln, XP_011538646.1:p.Pro1369Gln, XP_006725183.1:p.Pro1477Gln, XP_011538648.1:p.Pro1481Gln, XM_011546578.1:c.3977C>A, XM_005270276.3:c.4430C>A, XP_011544878.1:p.Pro1391Gln, NP_004738.3:p.Pro1481=, XP_005270333.1:p.Pro1477Gln, NM_004747.3:c.4442C>A, XM_006725122.2:c.3422C>A, XM_011546576.1:c.4172C>A, NP_004738.3:p.Pro1481Arg, XP_011544879.1:p.Pro1369Gln, XM_011540341.1:c.4265C>A, XP_011544880.1:p.Pro1326Gln, XM_011540346.1:c.4442C>A, XM_011540345.1:c.3977C>A, XM_006718056.2:c.3422C>A +PA166183763 rs2289487 PA33409 PLIN1 NC_000015.10:89673865 1 0 0 0 0 NC_000015.10:g.89673865=, NC_000015.9:g.90217096=, NG_029172.1:g.10553G>A, NC_000015.9:g.90217096C>T, NG_029172.1:g.10553=, rs2289487, 2289487, 60653822, NC_000015.10:g.89673865C>T +PA166157748 rs2289656 PA31818 NTRK2 NC_000009.12:84948647 2 0 0 0 0 XM_011518719.1:c.1889+13G>A, XM_005252003.1:c.1937+13G>A, 59568966, NM_001018064.2:c.1889+13G>A, XM_005252001.1:c.1937+13G>A, XM_005252005.1:c.1889+13G>A, NC_000009.11:g.87563562G>A, XM_005252004.1:c.1937+13G>A, NC_000009.12:g.84948647=, rs2289656, 2289656, NC_000009.11:g.87563562=, NG_012201.2:g.285097G>A, XM_005252002.1:c.1937+13G>A, rs59568966, NG_012201.2:g.285097=, NM_006180.4:c.1937+13G>A, XM_011518718.1:c.1889+13G>A, NC_000009.12:g.84948647G>A +PA166163351 rs2289657 PA31818 NTRK2 NC_000009.12:84948545 1 0 0 0 0 NC_000009.11:g.87563460C>T, NG_012201.2:g.284995C>A, NP_006171.2:p.Ile616=, NG_012201.2:g.284995C>T, NC_000009.11:g.87563460=, rs2289657, NC_000009.11:g.87563460C>A, NC_000009.12:g.84948545C>A, 2289657, NC_000009.12:g.84948545C>T, NG_012201.2:g.284995=, NC_000009.12:g.84948545= +PA166157749 rs2289658 PA31818 NTRK2 NC_000009.12:84948455 2 1 0 0 0 386563821, 2289658, 58111962, NC_000009.11:g.87563370T>C, NG_012201.2:g.284905T>C, NC_000009.11:g.87563370=, rs2289658, NC_000009.12:g.84948455=, XM_011518718.1:c.1717-7T>C, XM_005252003.1:c.1765-7T>C, XM_005252005.1:c.1717-7T>C, NG_012201.2:g.284905=, XM_005252004.1:c.1765-7T>C, NC_000009.12:g.84948455T>C, XM_005252001.1:c.1765-7T>C, NM_001018064.2:c.1717-7T>C, rs58111962, NM_006180.4:c.1765-7T>C, XM_011518719.1:c.1717-7T>C, rs386563821, XM_005252002.1:c.1765-7T>C +PA166155206 rs2289669 PA162403808,PA144596299 SLC47A1,SNORA59B NC_000017.11:19560030 14 1 0 0 0 NC_000017.11:g.19560030G>A, XM_005256710.1:c.922-158G>A, 2289669, 56528368, NC_000017.10:g.19463343=, NM_018242.2:c.922-158G>A, XM_005256713.1:c.853-158G>A, NC_000017.11:g.19560030=, 57126832, rs2289669, 386563823, rs56528368, XR_934310.1:n.1230C>T, XM_005256711.1:c.808-158G>A, rs57126832, XM_005256714.1:c.922-158G>A, rs386563823, XM_005256712.1:c.922-158G>A, NC_000017.10:g.19463343G>A +PA166157354 rs2290228 PA26047 CALU NC_000007.14:128748594 4 0 0 0 0 2290228, NM_001219.4:c.11G>A, NP_001210.1:p.Arg4Leu, rs2290228, NC_000007.14:g.128748594G>A, NG_033110.1:g.14303G>A, NM_001199672.1:c.35G>A, NC_000007.13:g.128388648G>T, rs61408000, NP_001124146.1:p.Arg4Gln, NP_001186601.1:p.Arg12Gln, NP_001186600.1:p.Arg12Gln, NP_001210.1:p.Arg4Gln, 10399443, NC_000007.13:g.128388648=, rs10399443, NM_001130674.2:c.11G>A, NP_001210.1:p.Arg4=, NC_000007.13:g.128388648G>A, NR_074086.1:n.141+9162G>A, 61408000, NC_000007.14:g.128748594G>T, NG_033110.1:g.14303G>T, NC_000007.14:g.128748594=, NM_001199671.1:c.35G>A, 11545532, XM_011516588.1:c.-406G>A, NG_033110.1:g.14303=, NP_001186602.1:p.Arg4Gln, NM_001199673.1:c.11G>A, rs11545532 +PA166154885 rs2290271 PA387 SLC28A1 NC_000015.10:84904404 2 1 0 0 0 NC_000015.9:g.85447635A>C, XM_005254990.1:c.603+166A>C, rs17608700, XM_011522203.1:c.603+166A>C, NM_001287762.1:c.603+166A>C, XM_005254995.1:c.603+166A>C, rs2290271, XM_011522215.1:c.603+166A>C, XM_011522209.1:c.603+166A>C, XM_005254992.1:c.576+166A>C, rs56963765, XM_005254991.1:c.603+166A>C, 2290271, XM_005254994.1:c.369+166A>C, XM_011522218.1:c.603+166A>C, XM_011522206.1:c.603+166A>C, NC_000015.9:g.85447635=, XM_011522210.1:c.603+166A>C, 56963765, XM_011522214.1:c.603+166A>C, XM_005254989.1:c.603+166A>C, XM_005254988.1:c.603+166A>C, XR_931945.1:n.809+166A>C, XM_011522205.1:c.603+166A>C, XM_011522213.1:c.603+166A>C, 17608700, XM_011522216.1:c.369+166A>C, NC_000015.10:g.84904404A>C, NM_004213.4:c.603+166A>C, XM_005254993.1:c.603+166A>C, XM_011522207.1:c.603+166A>C, XM_011522204.1:c.603+166A>C, XM_011522208.1:c.576+166A>C, XM_011522217.1:c.603+166A>C, NC_000015.10:g.84904404=, XM_011522211.1:c.369+166A>C, XM_011522212.1:c.603+166A>C, NM_001287761.1:c.603+166A>C, XR_931944.1:n.809+166A>C +PA166154886 rs2290272 PA387 SLC28A1 NC_000015.10:84904200 3 0 0 0 0 NM_001287762.1:c.565G>A, XM_011522208.1:c.538G>A, XM_005254992.1:c.538G>A, XP_011520507.1:p.Val189Ile, XM_005254991.1:c.565G>A, 17536477, NP_004204.3:p.Val189=, XM_011522204.1:c.565G>A, 52799974, XM_005254989.1:c.565G>A, XM_011522214.1:c.565G>A, NC_000015.9:g.85447431=, XP_011520511.1:p.Val189Ile, XM_011522209.1:c.565G>A, XP_011520516.1:p.Val189Ile, NC_000015.9:g.85447431G>C, XP_005255046.1:p.Val189Ile, XP_005255050.1:p.Val189Ile, NC_000015.9:g.85447431G>A, NC_000015.10:g.84904200G>A, XP_011520519.1:p.Val189Ile, XP_011520518.1:p.Val111Ile, XR_931944.1:n.771G>A, XM_005254994.1:c.331G>A, XP_005255049.1:p.Val180Ile, XP_011520513.1:p.Val111Ile, XM_011522206.1:c.565G>A, XM_011522210.1:c.565G>A, rs17222253, XP_011520509.1:p.Val189Ile, XP_011520520.1:p.Val189Ile, XP_011520514.1:p.Val189Ile, NC_000015.10:g.84904200G>C, NM_004213.4:c.565G>A, XP_011520508.1:p.Val189Ile, 58773874, XM_011522217.1:c.565G>A, XP_011520515.1:p.Val189Ile, XM_011522207.1:c.565G>A, NM_001287761.1:c.565G>A, rs386563851, XM_005254990.1:c.565G>A, XM_005254988.1:c.565G>A, XP_005255045.1:p.Val189Ile, XM_011522216.1:c.331G>A, XP_011520505.1:p.Val189Ile, XM_011522218.1:c.565G>A, XM_011522205.1:c.565G>A, XM_005254995.1:c.565G>A, XM_011522215.1:c.565G>A, XR_931945.1:n.771G>A, XP_005255048.1:p.Val189Ile, rs2290272, XP_005255052.1:p.Val189Ile, 2290272, XP_005255051.1:p.Val111Ile, NP_004204.3:p.Val189Leu, NP_004204.3:p.Val189Ile, XP_011520510.1:p.Val180Ile, rs52799974, rs58773874, XM_005254993.1:c.565G>A, XM_011522203.1:c.565G>A, XM_011522211.1:c.331G>A, XP_011520506.1:p.Val189Ile, XP_011520512.1:p.Val189Ile, 386563851, XM_011522213.1:c.565G>A, XP_005255047.1:p.Val189Ile, NP_001274690.1:p.Val189Ile, NC_000015.10:g.84904200=, NP_001274691.1:p.Val189Ile, XM_011522212.1:c.565G>A, rs17536477, XP_011520517.1:p.Val189Ile, 17222253 +PA166164886 rs2290344 PA33290,PA166181594 PIGB,PIGBOS1 NC_000015.10:55327598 3 0 0 0 0 NC_000015.10:g.55327598=, 52791382, NP_004846.4:p.Met162Thr, NC_000015.9:g.55619796T>C, NC_000015.10:g.55327598T>C, 59002340, NP_004846.4:p.Met162=, NC_000015.9:g.55619796=, rs2290344, 2290344 +PA166154887 rs2290573 PA134908392 ULK3 NC_000015.10:74837253 1 1 0 0 0 XM_005254289.2:c.1436-9C>T, XM_005254290.1:c.1436-9C>T, XM_005254296.1:c.1046-9C>T, NM_001284364.2:c.1397-9C>T, NC_000015.10:g.74837253G>T, XM_005254293.1:c.1133-9C>T, XM_005254295.1:c.1052-9C>T, NC_000015.10:g.74837253=, XR_931789.1:n.1477-9C>T, NM_001284365.2:c.1052-9C>T, XR_931790.1:n.1471-9C>T, 2290573, NC_000015.9:g.75129594=, rs2290573, XM_005254289.1:c.1436-9C>T, NR_104307.2:n.1690-9C>T, NR_104309.2:n.1671-9C>T, XR_931792.1:n.1299-9C>T, XM_005254291.1:c.1430-9C>T, NC_000015.9:g.75129594G>T, 17590767, XM_005254292.1:c.1397-9C>T, XM_005254294.1:c.1127-9C>T, NC_000015.9:g.75129594G>A, NR_104308.2:n.1680-9C>T, NM_001099436.3:c.1403-9C>T, NC_000015.10:g.74837253G>A, XR_931791.1:n.1402-9C>T, rs17590767 +PA166156796 rs2290732 PA28489 GABRA1 NC_000005.10:161897892 1 1 0 0 0 NC_000005.10:g.161897892A>T, NG_011548.1:g.55702=, NM_001127648.1:c.*470A>G, NC_000005.9:g.161324898A>T, 60075070, NC_000005.10:g.161897892=, NM_000806.5:c.*470A>G, rs60075070, NC_000005.9:g.161324898=, NG_011548.1:g.55702A>T, NC_000005.10:g.161897892A>G, NC_000005.9:g.161324898A>G, NG_011548.1:g.55702A>G, NM_001127645.1:c.*470A>G, rs2290732, NM_001127644.1:c.*470A>G, NM_001127643.1:c.*470A>G, 2290732 +PA166227021 rs2290910 PA24561 ADCY2 NC_000005.10:7802250 1 0 0 0 0 NP_065433.2:p.Cys887=, 2290910, 58725334, NC_000005.9:g.7802363=, rs2290910, NG_046913.1:g.411021C>T, 386563890, NC_000005.10:g.7802250C>T, NG_046913.1:g.411021=, NC_000005.10:g.7802250=, NC_000005.9:g.7802363C>T +PA166154543 rs2291073 PA134865839 SLCO1B1 NC_000012.12:21172880 1 1 0 0 0 NC_000012.11:g.21325814T>G, NC_000012.11:g.21325814=, NC_000012.11:g.21325814T>C, NC_000012.12:g.21172880=, NG_011745.1:g.46687=, rs60048484, NM_006446.4:c.226+89T>G, 2291073, NG_011745.1:g.46687T>C, rs2291073, NC_000012.12:g.21172880T>G, NG_011745.1:g.46687T>G, 60048484, NC_000012.12:g.21172880T>C +PA166154544 rs2291075 PA134865839 SLCO1B1 NC_000012.12:21178691 1 2 0 0 0 NM_006446.4:c.597C>T, rs2291075, NC_000012.12:g.21178691C>T, NG_011745.1:g.52498C>T, 2291075, 59789518, NC_000012.11:g.21331625=, rs59789518, NC_000012.11:g.21331625C>T, NP_006437.3:p.Phe199=, NG_011745.1:g.52498=, NC_000012.12:g.21178691= +PA166156353 rs2291078 PA363 UMPS NC_000003.12:124740091 1 1 0 0 0 NC_000003.12:g.124740091T>A, rs199469592, XM_005247744.1:c.448+1852T>A, 199469592, XM_005247741.1:c.774T>A, XM_005247743.1:c.516T>A, NR_033434.1:n.1002T>A, NP_000364.1:p.Val350=, NR_033437.1:n.1255T>A, XP_005247799.1:p.Val172=, NG_017037.1:g.14726T>A, rs17843836, NM_000373.3:c.1050T>A, XM_005247742.1:c.516T>A, NG_017037.1:g.14726=, NC_000003.11:g.124458938T>A, NC_000003.12:g.124740091=, XP_005247800.1:p.Val172=, rs2291078, XP_005247798.1:p.Val258=, 2291078, 17843836, NC_000003.11:g.124458938= +PA166155679 rs2291767 PA134906408 OTOS NC_000002.12:240140715 2 1 0 0 0 NM_148961.3:c.-214A>G, 2291767, NC_000002.11:g.241080132=, NC_000002.11:g.241080132T>C, NC_000002.12:g.240140715=, rs2291767, NC_000002.12:g.240140715T>C +PA166153691 rs2291834 PA143485536 MIA3 NC_000001.11:222658953 1 0 0 0 0 NC_000001.10:g.222832295T>C, NM_001300867.1:c.1343+130T>C, NM_198551.3:c.4709+130T>C, rs2291834, 2291834, XM_005273122.1:c.1343+130T>C, XM_005273121.3:c.4709+130T>C, XM_011509513.1:c.*977T>C, XM_005273121.1:c.4709+130T>C, XM_006711304.2:c.4532+130T>C, NC_000001.11:g.222658953=, NC_000001.10:g.222832295=, NC_000001.11:g.222658953T>C +PA166157750 rs2291858 PA142671748 GAPVD1 NC_000009.12:125366503 1 1 0 0 0 NC_000009.12:g.125366503A>G, 59761820, rs2291858, NC_000009.11:g.128128782A>G, rs386563938, rs59761820, 2291858, NC_000009.11:g.128128782=, 386563938, NC_000009.12:g.125366503= +PA166156797 rs2292023 PA162394232,PA311 LPCAT1,SLC6A3 NC_000005.10:1461274 1 0 0 0 0 XM_005248373.1:c.*2377G>T, XM_005248374.1:c.*2377G>T, XM_005248375.1:c.*2377G>T, XM_011514132.1:c.*2377G>T, NC_000005.10:g.1461274C>A, XM_011514134.1:c.*2377G>T, NG_051622.1:g.67704=, NM_024830.3:c.*2224+153G>T, XM_011514133.1:c.*2377G>T, NG_051622.1:g.67704G>T, XM_005248373.2:c.*2377G>T, rs2292023, NC_000005.9:g.1461389C>A, 57182860, NM_024830.3:c.*2377G>T, NC_000005.10:g.1461274=, NC_000005.9:g.1461389=, rs57182860, NT_187547.1:g.48499G>T, 2292023 +PA166271161 rs2292596 PA24639 AHRR NC_000005.10:422840 1 1 0 0 0 NC_000005.10:g.422840C>T, NC_000005.9:g.422955C>G, NG_029834.2:g.123665C>T, NC_000005.9:g.422955C>T, NG_029834.2:g.123665=, NP_001364165.1:p.Pro185=, NC_000005.9:g.422955=, NP_001364165.1:p.Pro185Ala, NP_001364165.1:p.Pro185Ser, rs2292596, 2292596, NC_000005.10:g.422840C>G, NC_000005.10:g.422840=, NG_029834.2:g.123665C>G +PA166155038 rs2292954 PA34670,PA36067 RPL13,SPG7 NC_000016.10:89546715 1 1 0 0 0 XM_006721264.2:c.1507A>G, 3205047, rs3205047, NC_000016.9:g.89613123=, NP_003110.1:p.Thr503=, NG_008082.1:g.43319A>G, NP_003110.1:p.Thr503Ala, 59421193, 17775132, rs52815392, 17404897, NC_000016.9:g.89613123A>G, NC_000016.10:g.89546715A>G, NM_003119.3:c.1507A>G, XM_005256320.1:c.-236A>G, NC_000016.10:g.89546715=, rs59421193, rs2292954, 2292954, XP_006721327.1:p.Thr503Ala, 52815392, rs17404897, rs17775132, NG_008082.1:g.43319= +PA166156354 rs2292997 PA395 ABCC5 NC_000003.12:184006284 1 1 0 0 0 NR_046570.1:n.-54G>A, XM_005247060.1:c.129+7980C>T, NC_000003.12:g.184006284=, XM_011512315.1:c.129+7980C>T, 17750557, XM_005247058.3:c.129+7980C>T, NG_047115.1:g.16727C>T, XM_005247059.3:c.129+7980C>T, NG_047115.1:g.16727C>A, NM_001023587.2:c.129+7980C>T, rs2292997, NR_135125.1:n.315+7980C>T, XM_005247059.1:c.129+7980C>T, 2292997, NG_047115.1:g.16727C>G, NC_000003.11:g.183724072G>A, rs56715946, XM_011512316.1:c.-1403+7980C>T, NC_000003.11:g.183724072G>C, NC_000003.12:g.184006284G>A, NG_047115.1:g.16727=, NC_000003.12:g.184006284G>C, NM_001320032.1:c.-1403+7980C>T, NC_000003.11:g.183724072=, rs17750557, XM_005247062.1:c.-1403+7980C>T, 56715946, XM_005247058.1:c.129+7980C>T, NC_000003.11:g.183724072G>T, XM_005247061.1:c.129+7980C>T, XM_011512314.1:c.129+7980C>T, NM_005688.3:c.129+7980C>T, NC_000003.12:g.184006284G>T +PA166156355 rs2293001 PA395 ABCC5 NC_000003.12:183982423 3 0 0 0 0 NC_000003.12:g.183982423C>T, NC_000003.11:g.183700211C>G, XM_011512316.1:c.-533+28G>A, XM_011512314.1:c.999+28G>A, XM_005247060.1:c.999+28G>A, NC_000003.11:g.183700211C>T, XM_005247058.3:c.999+28G>A, 2293001, rs2293001, XM_005247062.1:c.-533+28G>A, XM_005247058.1:c.999+28G>A, XM_011512315.1:c.999+28G>A, NG_047115.1:g.40588=, NG_047115.1:g.40588G>T, XM_005247061.1:c.999+28G>A, NC_000003.12:g.183982423=, NC_000003.12:g.183982423C>G, NG_047115.1:g.40588G>C, NG_047115.1:g.40588G>A, NM_005688.3:c.999+28G>A, XM_005247059.1:c.999+28G>A, XM_005247059.3:c.999+28G>A, NC_000003.11:g.183700211=, NM_001320032.1:c.-533+28G>A, NC_000003.12:g.183982423C>A, NC_000003.11:g.183700211C>A +PA166157355 rs2293347 PA7360 EGFR NC_000007.14:55201223 3 2 0 0 0 17337472, 386564009, NC_000007.14:g.55201223=, rs61150996, XP_005271803.1:p.Asp949=, NG_007726.3:g.187192=, NM_005228.3:c.2982C>T, 61150996, XM_005271747.1:c.2823C>T, NC_000007.13:g.55268916C>T, XP_005271804.1:p.Asp941=, rs17337472, 56649858, NC_000007.13:g.55268916=, NP_005219.2:p.Asp994=, 10435501, 2293347, rs10435501, rs386564009, XM_005271746.1:c.2847C>T, NG_007726.3:g.187192C>T, rs56649858, NC_000007.14:g.55201223C>T, rs2293347 +PA166157356 rs2293348 PA7360 EGFR NC_000007.14:55199064 3 0 0 0 0 rs386564010, NM_005228.3:c.2848+201C>T, rs56649022, 57162744, 17337409, NG_007726.3:g.185033=, NC_000007.13:g.55266757C>T, XM_005271746.1:c.2713+201C>T, NC_000007.13:g.55266757=, NC_000007.14:g.55199064C>T, XM_005271747.1:c.2689+201C>T, rs57162744, 2293348, rs2293348, NG_007726.3:g.185033C>T, 386564010, NC_000007.14:g.55199064=, 56649022, rs17337409 +PA166162268 rs2294021 PA134947763 CCDC22 NC_000023.11:49249149 1 0 0 0 0 NG_021311.2:g.18685T>C, NG_007392.1:g.20679A>T, NG_021311.2:g.18685=, NC_000023.10:g.49105610T>C, NC_000023.10:g.49105610=, NC_000023.10:g.49105610T>A, 60742473, NG_007392.1:g.20679=, 2294021, NG_007392.1:g.20679A>G, rs2294021, NC_000023.11:g.49249149T>C, NC_000023.11:g.49249149T>A, NC_000023.11:g.49249149=, NG_021311.2:g.18685T>A +PA166153692 rs2294950 PA27112,PA134945565 CYP2J2,HOOK1 NC_000001.11:59848824 1 0 0 0 0 NC_000001.10:g.60314496T>G, XM_011541563.1:c.1132-249T>G, XM_005270922.1:c.1132-249T>G, NM_015888.4:c.1132-249T>G, XR_946665.1:n.1328-249T>G, NC_000001.10:g.60314496=, XR_246272.1:n.1328-249T>G, NC_000001.11:g.59848824T>G, XM_011541562.1:c.1006-249T>G, NC_000001.11:g.59848824=, XM_006710676.1:c.1132-249T>G, 2294950, rs2294950, XR_246271.1:n.1328-249T>G +PA166238121 rs2295079 PA28360 MTOR NC_000001.11:11262508 2 0 0 0 0 NC_000001.10:g.11322565C>T, 17235528, NG_033239.1:g.5044G>C, NC_000001.10:g.11322565=, 17848551, NC_000001.11:g.11262508C>T, NC_000001.11:g.11262508=, NG_033239.1:g.5044=, rs2295079, 2295079, NC_000001.10:g.11322565C>G, NG_033239.1:g.5044G>A, NC_000001.11:g.11262508C>A, NG_033239.1:g.5044G>T, NC_000001.11:g.11262508C>G, NC_000001.10:g.11322565C>A +PA166238102 rs2295080 PA28360 MTOR NC_000001.11:11262571 2 0 0 0 0 NC_000001.10:g.11322628G>T, NC_000001.10:g.11322628=, 2295080, NG_033239.1:g.4981C>G, 17848541, 17235521, rs2295080, NC_000001.11:g.11262571G>C, NG_033239.1:g.4981C>A, NC_000001.10:g.11322628G>C, NG_033239.1:g.4981=, NC_000001.11:g.11262571G>T, NC_000001.11:g.11262571= +PA166177059 rs2295448 PA31944 OPRL1 NC_000020.11:64098224 1 0 0 0 0 NC_000020.10:g.62729577C>T, NC_000020.11:g.64098224C>T, 2295448, NC_000020.10:g.62729577=, rs2295448, NC_000020.11:g.64098224= +PA166163269 rs2295474 PA37404 XDH NC_000002.12:31336007 1 0 0 0 0 2295474, NG_008871.1:g.83739=, NG_008871.1:g.83739G>A, rs2295474, NC_000002.12:g.31336007C>T, NP_000370.2:p.Cys1318Tyr, NG_008871.2:g.83739=, NC_000002.11:g.31558873=, NC_000002.12:g.31336007=, NC_000002.11:g.31558873C>T, NG_008871.2:g.83739G>A, NP_000370.2:p.Cys1318= +PA166276901 rs2295475 PA37404 XDH NC_000002.12:31366981 1 0 0 0 0 rs2295475, 2295475, NG_008871.2:g.52765=, NC_000002.11:g.31589847G>A, NP_000370.2:p.Ile737=, NC_000002.11:g.31589847=, 58561002, NC_000002.12:g.31366981G>A, NG_008871.2:g.52765C>T, 60482630, 17323176, NC_000002.12:g.31366981= +PA166163170 rs2295490 PA25804 TRIB3 NC_000020.11:388261 2 1 0 0 0 NP_066981.2:p.Gln84Arg, NC_000020.10:g.368905=, NC_000020.10:g.368905A>G, NC_000020.10:g.368905A>T, 17856768, rs2295490, NC_000020.11:g.388261A>G, NP_066981.2:p.Gln84=, 2295490, NP_066981.2:p.Gln84Leu, NC_000020.11:g.388261=, NC_000020.11:g.388261A>T +PA166179160 rs2295553 PA164718734 DDRGK1 NC_000020.11:3203488 1 0 0 0 0 rs2295553, 2295553, NC_000020.10:g.3184134C>T, NC_000020.11:g.3203488C>T, NC_000020.10:g.3184134=, NC_000020.11:g.3203488=, 59281511 +PA166153693 rs2295632 PA27955 FAAH NC_000001.11:46413890 4 2 0 0 0 NG_012195.1:g.24624=, NC_000001.11:g.46413890T>G, 59580133, NC_000001.10:g.46879562T>G, rs59580133, NG_012195.1:g.24624T>G, NM_001441.2:c.*315T>G, NC_000001.10:g.46879562=, NC_000001.11:g.46413890=, rs2295632, XM_005270624.1:c.*315T>G, 2295632 +PA166163287 rs2295633 PA27955 FAAH NC_000001.11:46408711 1 0 0 0 0 NG_012195.1:g.19445A>G, NC_000001.10:g.46874383A>C, NC_000001.10:g.46874383=, NC_000001.11:g.46408711A>T, NG_012195.1:g.19445A>C, NC_000001.11:g.46408711A>C, NC_000001.10:g.46874383A>T, NC_000001.11:g.46408711A>G, NC_000001.11:g.46408711=, 2295633, 386564084, rs2295633, 59234136, NC_000001.10:g.46874383A>G, NG_012195.1:g.19445=, NG_012195.1:g.19445A>T +PA166285321 rs2295795 PA36547 TLN1 NC_000009.12:35712006 1 0 0 0 0 NC_000009.11:g.35712003G>A, NC_000009.12:g.35712006G>A, NC_000009.12:g.35712006G>C, NC_000009.11:g.35712003=, NC_000009.11:g.35712003G>C, NC_000009.12:g.35712006=, NP_006280.3:p.Ser1227Trp, rs2295795, 2295795, 17260374, 60567288, NP_006280.3:p.Ser1227Leu, NP_006280.3:p.Ser1227= +PA166170008 rs2296147 PA27851 ERCC5 NC_000013.11:102846025 1 0 0 0 0 rs2296147, NC_000013.10:g.103498375T>C, 2296147, NG_007146.1:g.5202T>C, 17326289, NG_007146.1:g.5202=, NC_000013.11:g.102846025T>C, NC_000013.11:g.102846025=, NC_000013.10:g.103498375= +PA166295622 rs2296616 PA164722344,PA32928 MIR107,PANK1 NC_000010.11:89593209 1 0 0 0 0 NC_000010.10:g.91352966G>C, NP_612189.2:p.Cys249=, 60504767, NC_000010.10:g.91352966G>A, NC_000010.11:g.89593209=, NG_029474.1:g.57364C>G, NG_029474.1:g.57364=, NP_612189.2:p.Cys249Trp, NC_000010.10:g.91352966=, 56432999, 2296616, NG_029474.1:g.57364C>T, rs2296616, NC_000010.11:g.89593209G>C, NC_000010.11:g.89593209G>A, 17390035 +PA166245122 rs2296651 PA317 SLC10A1 NC_000014.9:69778476 1 0 0 0 0 NC_000014.8:g.70245193G>A, rs2296651, 2296651, NC_000014.8:g.70245193=, NC_000014.9:g.69778476G>A, NP_003040.1:p.Ser267=, 52808044, NC_000014.9:g.69778476=, NP_003040.1:p.Ser267Phe +PA166153694 rs2296840 PA33886 PSMB4 NC_000001.11:151399571 1 0 0 0 0 111189169, NM_002796.2:c.-17C>T, NC_000001.10:g.151372047C>T, NC_000001.10:g.151372047=, rs17523782, 60209531, 57996262, rs2296840, 2296840, rs57996262, rs111189169, 17523782, rs60209531, NC_000001.11:g.151399571C>T, NC_000001.11:g.151399571= +PA166153695 rs2297480 PA28075,PA33352 FDPS,PKLR NC_000001.11:155309691 4 3 0 0 0 NM_001135822.1:c.-1-373T>G, NC_000001.11:g.155309691T>G, NC_000001.10:g.155279482T>G, NM_002004.3:c.-1-98T>G, 2297480, XM_005244963.1:c.-22-352T>G, rs2297480, XM_005245266.1:c.-1000A>C, XM_005245266.3:c.-1000A>C, NM_001242825.1:c.-175+726T>G, NC_000001.11:g.155309691=, XM_011509639.1:c.-1000A>C, NC_000001.11:g.155309691T>A, NC_000001.10:g.155279482=, XM_005244962.1:c.-1-373T>G, rs59477014, NG_045218.1:g.5944T>A, NG_045218.1:g.5944=, NM_001135821.1:c.-1-98T>G, NC_000001.10:g.155279482T>A, 59477014, NG_045218.1:g.5944T>G, NM_001242824.1:c.-22-352T>G +PA166153696 rs2297595 PA145 DPYD NC_000001.11:97699535 37 2 0 1 0 NP_000101.2:p.Met166=, XP_005270621.1:p.Met166Val, XM_005270562.1:c.496A>G, 61243782, NC_000001.10:g.98165091=, rs118014431, rs199469517, XP_005270618.1:p.Met129Val, NC_000001.11:g.97699535T>C, rs61243782, 199469517, NP_000101.2:p.Met166Val, XM_005270563.1:c.496A>G, XM_005270562.3:c.496A>G, XP_005270619.2:p.Met166Val, XM_005270561.1:c.385A>G, NC_000001.11:g.97699535=, NC_000001.10:g.98165091T>C, XP_005270619.1:p.Met166Val, XM_005270564.1:c.496A>G, NG_008807.2:g.226525=, NG_008807.2:g.226525A>G, 118014431, rs2297595, 2297595, 52827192, XM_006710397.2:c.496A>G, XP_006710460.1:p.Met166Val, rs52827192, XP_005270620.1:p.Met166Val, NM_000110.3:c.496A>G +PA166176808 rs2298191 PA24589,PA166123749 ADORA3,TMIGD3 NC_000001.11:111505642 3 0 0 0 0 58752625, NC_000001.11:g.111505642T>C, NC_000001.11:g.111505642=, NG_032119.1:g.63334A>G, NC_000001.10:g.112048264T>C, NG_032119.1:g.63334A>C, NG_032119.1:g.63334=, 2298191, NC_000001.10:g.112048264=, rs2298191, NC_000001.11:g.111505642T>G, NC_000001.10:g.112048264T>G +PA166156099 rs2298383 PA24584,PA165378332 ADORA2A,ADORA2A-AS1 NC_000022.11:24429543 9 3 0 0 0 NC_000022.11:g.24429543C>A, NG_052804.1:g.10947C>G, NM_000675.5:c.-275+1797C>T, NC_000022.10:g.24825511=, NR_103546.1:n.3906-3588C>T, 2298383, NG_052804.1:g.10947=, NG_052804.1:g.10947C>A, rs2298383, NM_001278500.1:c.-274-3588C>T, NC_000022.10:g.24825511C>A, NC_000022.11:g.24429543C>T, NC_000022.11:g.24429543=, NR_103543.1:n.185+1797C>T, NC_000022.10:g.24825511C>G, NM_001278499.1:c.-275+1817C>T, 59635240, NR_028484.2:n.2494G>A, NC_000022.11:g.24429543C>G, rs59635240, NC_000022.10:g.24825511C>T, NR_103544.1:n.165+1817C>T, NG_052804.1:g.10947C>T +PA166155680 rs2298771 PA301 SCN1A NC_000002.12:166036278 14 2 0 0 0 NG_011906.1:g.42362=, XM_011511599.1:c.3199G>A, AB093548.1:c.3199A>G, NM_001202435.1:c.3199G>A, XP_011509903.1:p.Ala1067Thr, NC_000002.12:g.166036278C>G, NP_008851.3:p.Ala1056Pro, NP_001159435.1:p.Ala1067Thr, XM_011511605.1:c.3163G>A, 17736325, XR_922981.1:n.3383G>A, XM_011511606.1:c.3115G>A, 52795097, 2298771, rs2298771, XM_011511603.1:c.3196G>A, XP_011509907.1:p.Ala1055Thr, NM_001165964.1:c.3115G>A, XM_011511598.1:c.3199G>A, NG_011906.1:g.42362G>A, NP_008851.3:p.Ala1056=, NG_011906.1:g.42362G>C, NP_001189364.1:p.Ala1067Thr, XP_011509906.1:p.Ala1056Thr, XP_011509908.1:p.Ala1039Thr, rs57078271, AB093548.1:c.3199A=, NR_110598.1:n.618C>T, XM_011511604.1:c.3166G>A, BAC21101.1:p.Thr1067Ala, NC_000002.12:g.166036278C>T, XP_011509905.1:p.Ala1066Thr, rs17736325, XP_011509902.1:p.Ala1067Thr, NP_001159436.1:p.Ala1039Thr, NM_001165963.1:c.3199G>A, NC_000002.11:g.166892788C>T, XP_011509904.1:p.Ala1067Thr, NM_006920.4:c.3166G>A, NC_000002.11:g.166892788C>G, XP_011509900.1:p.Ala1067Thr, 57078271, XM_011511607.1:c.3199G>A, rs52795097, NC_000002.12:g.166036278=, BAC21101.1:p.Thr1067=, XP_011509909.1:p.Ala1067Thr, NP_008851.3:p.Ala1056Thr, XP_011509901.1:p.Ala1067Thr, XM_011511600.1:c.3199G>A, XM_011511601.1:c.3199G>A, NC_000002.11:g.166892788=, XM_011511602.1:c.3199G>A +PA166153699 rs2298805 PA28056 FCER1A NC_000001.11:159304153 1 1 0 0 0 NC_000001.10:g.159273943G>A, 56423676, NP_001992.1:p.Ser101=, XM_005244956.1:c.311G>A, NC_000001.10:g.159273943=, NM_002001.3:c.302G>A, NP_001992.1:p.Ser101Asn, 52799204, rs2298805, XP_005245013.1:p.Ser104Asn, rs56423676, NC_000001.11:g.159304153G>A, 2298805, rs52799204, NC_000001.11:g.159304153= +PA166154366 rs2298826 PA35911 SLC6A5 NC_000011.10:20638211 1 1 0 0 0 NG_013086.2:g.43812G>A, NM_004211.4:c.1870-248G>A, NC_000011.10:g.20638211=, rs2298826, NM_001318369.1:c.1168-248G>A, NC_000011.9:g.20659757G>A, XM_005253225.1:c.1168-248G>A, 2298826, NG_013086.2:g.43812=, NC_000011.10:g.20638211G>A, XM_011520473.1:c.1870-248G>A, NC_000011.9:g.20659757= +PA166169975 rs2298881 PA155 ERCC1 NC_000019.10:45423658 4 1 0 0 0 61102022, NC_000019.10:g.45423658=, NG_015839.2:g.60171=, NC_000019.10:g.45423658C>A, 2298881, NC_000019.9:g.45926916C>T, NC_000019.10:g.45423658C>T, NC_000019.9:g.45926916C>A, NG_015839.2:g.60171G>A, rs2298881, NC_000019.9:g.45926916=, NG_015839.2:g.60171G>T +PA166184211 rs2298895 PA31942 OPRD1 NC_000001.11:28852412 3 0 0 0 0 59541224, 2298895, NC_000001.11:g.28852412=, NC_000001.11:g.28852412A>T, rs2298895, NC_000001.10:g.29178924A>T, NC_000001.10:g.29178924= +PA166198162 rs2298896 PA31942 OPRD1 NC_000001.11:28839626 2 0 0 0 0 2298896, 117634029, NC_000001.10:g.29166138T>G, 58899036, NC_000001.11:g.28839626T>G, NC_000001.11:g.28839626=, rs2298896, NC_000001.10:g.29166138= +PA166184208 rs2298897 PA31942 OPRD1 NC_000001.11:28839325 1 1 0 0 0 2298897, NC_000001.10:g.29165837C>G, NC_000001.11:g.28839325=, 59283289, NC_000001.10:g.29165837=, NC_000001.11:g.28839325C>G, rs2298897 +PA166157357 rs2299214 PA28992 GRM3 NC_000007.14:86679790 2 0 0 0 0 XM_005250289.1:c.100+34918C>T, NC_000007.14:g.86679790=, NC_000007.14:g.86679790C>A, NC_000007.13:g.86309106=, NC_000007.13:g.86309106C>A, NC_000007.14:g.86679790C>G, rs9791754, NM_000840.2:c.-141+34918C>T, XM_011516088.1:c.-141+34918C>T, XM_005250287.1:c.84+34918C>T, rs60400850, XM_011516090.1:c.-141+34918C>T, 2299214, NC_000007.13:g.86309106C>T, NC_000007.14:g.86679790C>T, 60400850, 9791754, NC_000007.13:g.86309106C>G, rs2299214, XM_011516089.1:c.-141+34918C>T +PA166157358 rs2299225 PA28992 GRM3 NC_000007.14:86818264 1 0 0 0 0 NC_000007.13:g.86447580T>G, rs56919395, 17765182, NC_000007.14:g.86818264=, NC_000007.13:g.86447580=, XM_005250289.1:c.101-20575T>G, XM_005250286.1:c.1325-20575T>G, XM_005250287.1:c.941-20575T>G, XM_005250290.1:c.1325-14758T>G, XM_011516088.1:c.1324+31148T>G, 56919395, NC_000007.14:g.86818264T>G, rs17765182, 2299225, NM_000840.2:c.1325-20575T>G, XM_005250288.1:c.1324+31148T>G, XM_011516090.1:c.1325-14758T>G, rs2299225 +PA166157359 rs2299267 PA33530 PON2 NC_000007.14:95432609 1 1 0 0 0 rs59934246, NG_008725.1:g.7464=, XM_005250453.1:c.-105+2269T>C, NC_000007.14:g.95432609A>G, NM_001018161.1:c.74+2269T>C, NG_008725.1:g.7464T>C, XM_005250454.1:c.-181+2269T>C, rs17717638, rs17876064, XR_242249.1:n.447+2269T>C, rs10343232, NM_000305.2:c.74+2269T>C, XM_011516333.1:c.-255+2269T>C, 59934246, 17717638, NC_000007.13:g.95061921=, NC_000007.13:g.95061921A>G, 2299267, rs2299267, 17876064, 10343232, NC_000007.14:g.95432609= +PA166154011 rs2299939 PA33942 PTEN NC_000010.11:87897393 1 1 0 0 0 NG_007466.2:g.38955C>T, NC_000010.11:g.87897393=, 60036687, NM_001304718.1:c.-542+3284C>A, XR_945791.1:n.876+3284C>A, 52816835, rs17561756, NC_000010.10:g.89657150=, XR_945789.1:n.876+3284C>A, NC_000010.10:g.89657150C>T, rs60036687, NG_007466.2:g.38955=, NG_007466.2:g.38955C>A, NC_000010.11:g.87897393C>A, rs52816835, XM_011539981.1:c.164+3284C>A, NM_000314.4:c.164+3284C>A, 17561756, XM_006717926.2:c.164+3284C>A, NC_000010.11:g.87897393C>T, NM_000314.6:c.164+3284C>A, NM_001304717.2:c.683+3284C>A, XM_011539982.1:c.68+16955C>A, rs2299939, 2299939, NC_000010.10:g.89657150C>A, XR_945790.1:n.876+3284C>A +PA166156798 rs2301149 PA30041,PA221 KCNIP1,KCNMB1 NC_000005.10:170378952 1 1 0 0 0 NC_000005.9:g.169805956=, NP_004128.1:p.Val110=, NP_004128.1:p.Val110Leu, NP_004128.1:p.Val110Met, NC_000005.10:g.170378952C>T, rs2301149, NM_004137.3:c.328G>C, 2301149, NC_000005.10:g.170378952C>G, NM_001034838.2:c.88+24988C>G, rs57496667, XM_006714861.1:c.-1+24988C>G, NG_011538.1:g.30076=, NG_011452.2:g.15683=, NG_011538.1:g.30076C>G, 57496667, XM_011534539.1:c.88+24988C>G, NG_011452.2:g.15683G>A, NG_011538.2:g.30076C>T, NG_011452.2:g.15683G>C, NC_000005.10:g.170378952=, NC_000005.9:g.169805956C>G, NG_011538.1:g.30076C>T, NG_011538.2:g.30076C>G, NC_000005.9:g.169805956C>T, NG_011538.2:g.30076= +PA166154711 rs2301159 PA318 SLC10A2 NC_000013.11:103045378 1 1 0 0 0 NC_000013.11:g.103045378G>A, NM_000452.2:c.*755C>T, NC_000013.10:g.103697728G>A, NC_000013.10:g.103697728=, rs2301159, rs60680900, 2301159, 60680900, NG_016648.1:g.26469=, NG_016648.1:g.26469C>T, NC_000013.11:g.103045378= +PA166154545 rs2301339 PA26276,PA176,PA37253 CDCA3,GNB3,USP5 NC_000012.12:6845460 4 1 0 0 0 NC_000012.11:g.6954624G>A, NG_009100.2:g.10250G>C, NG_009100.1:g.10250=, NC_000012.11:g.6954624=, NC_000012.11:g.6954624G>C, NG_009100.2:g.10250G>A, XM_011521028.1:c.*2069C>T, XM_011521027.1:c.*2069C>T, XM_011521029.1:c.*2287C>T, NC_000012.12:g.6845460G>T, XM_011520954.1:c.697-126G>A, NG_009100.1:g.10250G>C, NM_001297571.1:c.697-126G>A, NM_002075.3:c.700-126G>A, XM_005277752.1:c.697-126G>A, NG_009100.1:g.10250G>A, XM_005253680.1:c.697-126G>A, XM_005253679.1:c.700-126G>A, XM_011520953.1:c.700-126G>A, XM_005277751.1:c.700-126G>A, XM_005277753.1:c.702-257G>A, XM_005253681.1:c.702-257G>A, NC_000012.12:g.6845460G>C, NC_000012.12:g.6845460G>A, NW_003871083.2:g.47044G>A, NG_009100.1:g.10250G>T, 57171806, NC_000012.12:g.6845460=, XM_011521030.1:c.*2220C>T, rs2301339, 2301339, NG_009100.2:g.10250G>T, rs57171806, NC_000012.11:g.6954624G>T, NG_009100.2:g.10250= +PA166156799 rs2302273 PA33148 PDGFRB NC_000005.10:150155692 1 0 0 0 0 NC_000005.9:g.149535255=, NG_023367.1:g.5168C>T, NC_000005.10:g.150155692G>A, NC_000005.10:g.150155692=, rs56934659, NC_000005.9:g.149535255G>A, XM_005268464.2:c.-448C>T, rs2302273, 2302273, XM_011537659.1:c.-769C>T, XM_005268464.1:c.-448C>T, NM_002609.3:c.-302C>T, 56934659, NG_023367.1:g.5168= +PA166160715 rs2302489 PA30167 KLRD1 NC_000012.12:10307944 1 1 0 0 0 NC_000012.11:g.10460543=, NC_000012.11:g.10460543A>G, NC_000012.12:g.10307944=, NC_000012.11:g.10460543A>T, 2302489, NC_000012.12:g.10307944A>T, rs2302489, NC_000012.12:g.10307944A>G +PA166177410 rs2302615 PA31897,PA164726003 ODC1,SNORA80B NC_000002.12:10448012 1 0 0 0 0 NC_000002.12:g.10448012C>T, NG_012105.1:g.5316=, 28362375, rs2302615, 2302615, NC_000002.12:g.10448012=, NC_000002.11:g.10588138=, NG_012105.1:g.5316G>A, NC_000002.11:g.10588138C>T +PA166180146 rs2302663 PA25084 ATF2 NC_000002.12:175074876 2 0 0 0 0 NC_000002.11:g.175939604G>C, NG_047045.1:g.98331C>G, NC_000002.12:g.175074876G>A, NC_000002.12:g.175074876=, rs2302663, NG_047045.1:g.98331C>T, NG_047045.1:g.98331=, 2302663, NC_000002.11:g.175939604=, NC_000002.11:g.175939604G>A, NC_000002.12:g.175074876G>C +PA166155207 rs2302764 PA26494,PA134959224 CHRNB1,ZBTB4 NC_000017.11:7456791 1 0 0 0 0 61004098, NC_000017.11:g.7456791=, XM_005256434.1:c.*68T>C, NC_000017.10:g.7360110T>A, NC_000017.10:g.7360110T>C, 17806596, 2302764, rs2302764, NC_000017.11:g.7456791T>C, NC_000017.11:g.7456791T>A, rs17806596, NC_000017.10:g.7360110=, XM_005256433.1:c.*68T>C, NG_008026.1:g.16705=, NG_008026.1:g.16705T>C, NM_000747.2:c.*68T>C, NG_008026.1:g.16705T>A, rs61004098 +PA166157751 rs2302821 PA33948 PTGES NC_000009.12:129739602 1 1 0 0 0 rs386564384, rs2302821, NC_000009.12:g.129739602A>C, NC_000009.12:g.129739602A>G, NC_000009.11:g.132501881=, 2302821, rs59943369, 59943369, NC_000009.11:g.132501881A>G, 386564384, XM_011519210.1:c.*9T>G, NC_000009.11:g.132501881A>C, NM_004878.4:c.*9T>G, NC_000009.12:g.129739602= +PA166195120 rs2302898 PA134953867 TUBB3 NC_000016.10:89932386 1 0 0 0 0 NC_000016.9:g.89998794G>A, NC_000016.10:g.89932386=, NG_027810.1:g.15378=, NG_027810.1:g.15378G>A, rs2302898, NC_000016.10:g.89932386G>A, NC_000016.9:g.89998794=, 2302898, 60764125 +PA166155396 rs2302948 PA36249 SULT2B1 NC_000019.10:48592808 1 1 0 0 0 2302948, rs2302948, NM_004605.2:c.592C>T, NC_000019.10:g.48592808C>T, XM_005259182.2:c.205C>T, rs59383755, NP_004596.2:p.Leu198Val, NG_029063.1:g.45637=, NG_029063.1:g.45637C>G, NC_000019.10:g.48592808C>G, NP_814444.1:p.Leu213=, XP_005259239.1:p.Leu69=, NC_000019.9:g.49096065C>G, NM_177973.1:c.637C>T, XM_005259182.1:c.205C>T, 59383755, NC_000019.9:g.49096065C>T, NG_029063.1:g.45637C>T, NP_004596.2:p.Leu198=, NC_000019.9:g.49096065=, NC_000019.10:g.48592808= +PA166159611 rs2303070 PA37962 SPINK5 NC_000005.10:148120328 1 0 0 0 0 17860506, NC_000005.10:g.148120328G>A, NP_006837.2:p.Glu825Asp, NP_006837.2:p.Glu825=, NG_009633.1:g.61357=, NG_009633.1:g.61357G>T, NC_000005.9:g.147499891G>A, NC_000005.10:g.148120328G>T, 52791568, NC_000005.9:g.147499891G>C, NC_000005.9:g.147499891=, NC_000005.9:g.147499891G>T, NG_009633.1:g.61357G>C, NC_000005.10:g.148120328=, 2303070, rs2303070, NC_000005.10:g.148120328G>C, NG_009633.1:g.61357G>A +PA166180924 rs2303377 PA31459 NCAM1 NC_000011.10:113240779 1 1 0 0 0 NG_032036.1:g.284533T>C, NC_000011.10:g.113240779T>C, NG_032036.1:g.284533T>A, 2303377, 57984577, rs2303377, NC_000011.9:g.113111501=, NC_000011.9:g.113111501T>C, NC_000011.10:g.113240779=, NC_000011.10:g.113240779T>A, NC_000011.9:g.113111501T>A, NG_032036.1:g.284533= +PA166155682 rs2304016 PA35004 SCN2A NC_000002.12:165311993 3 6 0 0 0 XM_005246750.1:c.971-32A>G, 2304016, 60139689, NG_008143.1:g.77592A>G, XM_005246752.1:c.971-32A>G, rs2304016, NC_000002.12:g.165311993A>G, NM_001040143.1:c.971-32A>G, NM_021007.2:c.971-32A>G, XM_005246754.1:c.941-32A>G, rs60139689, XM_011511609.1:c.971-32A>G, XM_005246751.1:c.971-32A>G, NC_000002.11:g.166168503=, NC_000002.11:g.166168503A>G, XM_005246753.1:c.971-32A>G, NC_000002.12:g.165311993=, XM_005246753.2:c.971-32A>G, XM_005246754.3:c.941-32A>G, XM_005246755.1:c.218-32A>G, NM_001040142.1:c.971-32A>G, XM_005246755.3:c.218-32A>G, XM_005246750.2:c.971-32A>G, XM_011511608.1:c.971-32A>G, NG_008143.1:g.77592= +PA166183962 rs2304297 PA26492 CHRNA6 NC_000008.11:42753056 1 0 0 0 0 2304297, NC_000008.11:g.42753056G>C, NC_000008.10:g.42608199G>C, rs2304297, 60563541, 386443809, NC_000008.11:g.42753056=, NC_000008.10:g.42608199= +PA166182397 rs2304389 PA28896 GABBR2 NC_000009.12:98306298 1 0 0 0 0 NC_000009.11:g.101068580G>A, NP_005449.5:p.Pro684=, rs2304389, NC_000009.11:g.101068580=, 2304389, NC_000009.12:g.98306298G>A, NG_016426.1:g.407900C>T, NG_016426.1:g.407900=, 17767515, NC_000009.12:g.98306298= +PA166160865 rs2304429 PA27445 DNMT3A NC_000002.12:25235677 1 1 0 0 0 NC_000002.12:g.25235677=, NC_000002.11:g.25458546=, 60001450, NC_000002.11:g.25458546C>T, rs2304429, NC_000002.12:g.25235677C>T, NG_029465.2:g.111914G>A, 2304429, NG_029465.2:g.111914= +PA166155683 rs2304672 PA33185 PER2 NC_000002.12:238277948 1 0 0 0 0 NG_012146.1:g.15619=, rs17768280, 17768280, NC_000002.11:g.239186589=, 61719611, NC_000002.12:g.238277948=, XM_005246111.1:c.-12C>G, NC_000002.11:g.239186589G>C, NM_022817.2:c.-12C>G, XM_006712824.2:c.-12C>G, rs2304672, 2304672, NC_000002.12:g.238277948G>C, rs61719611, NG_012146.1:g.15619C>G, XM_005246111.3:c.-12C>G +PA166183760 rs2304795 PA33409 PLIN1 NC_000015.10:89667032 1 0 0 0 0 rs2304795, 17852909, 2304795, NC_000015.10:g.89667032=, NG_029172.1:g.17386=, NC_000015.9:g.90210263=, NC_000015.9:g.90210263A>G, NG_029172.1:g.17386T>C, NP_002657.3:p.Pro371=, NC_000015.10:g.89667032A>G, 57046384 +PA166156552 rs2304865 PA164719952 FAT1 NC_000004.12:186604209 1 0 0 0 0 NC_000004.11:g.187525363C>G, rs59912924, XM_005262834.2:c.10548+168G>C, XM_005262835.1:c.10548+168G>C, rs52800791, NC_000004.12:g.186604209=, XM_005262834.1:c.10548+168G>C, XM_006714139.2:c.10548+168G>C, 2304865, NC_000004.11:g.187525363=, 59912924, rs2304865, NM_005245.3:c.10548+168G>C, 52800791, NG_046994.1:g.127707=, NC_000004.12:g.186604209C>G, NG_046994.1:g.127707G>C +PA166177407 rs230490 NC_000004.12:102466262 1 0 0 0 0 NC_000004.11:g.103387419=, NC_000004.12:g.102466262G>T, NC_000004.12:g.102466262G>A, NC_000004.12:g.102466262G>C, 230490, 1313893, rs230490, NC_000004.11:g.103387419G>T, NC_000004.11:g.103387419G>C, NC_000004.11:g.103387419G>A, 57119528, 386564470, NC_000004.12:g.102466262= +PA166162504 rs230493 PA248 NFKB1 NC_000004.12:102565059 2 0 0 0 0 3774950, NG_050628.1:g.68731=, NG_050628.1:g.68731A>T, 230493, NC_000004.12:g.102565059A>G, rs230493, NC_000004.12:g.102565059=, NG_050628.1:g.68731A>G, 1313896, 663984, NC_000004.11:g.103486216A>T, NC_000004.11:g.103486216A>G, NC_000004.12:g.102565059A>T, 60174252, NC_000004.11:g.103486216= +PA166162502 rs230504 PA248 NFKB1 NC_000004.12:102560404 1 0 0 0 0 NC_000004.12:g.102560404=, rs230504, 61441524, 624089, NC_000004.11:g.103481561T>G, NC_000004.12:g.102560404T>G, NG_050628.1:g.64076=, NC_000004.11:g.103481561T>C, NG_050628.1:g.64076T>G, NC_000004.11:g.103481561=, NG_050628.1:g.64076T>C, NC_000004.12:g.102560404T>C, 230504, 1313907 +PA166157033 rs2305089 PA36296 TBXT NC_000006.12:166165782 1 1 0 0 0 NC_000006.11:g.166579270C>T, XM_011536080.1:c.530G>A, 52793205, NP_003172.1:p.Gly177=, NC_000006.12:g.166165782=, NM_001270484.1:c.530G>A, NP_003172.1:p.Gly177Asp, 2305089, NC_000006.11:g.166579270=, NC_000006.12:g.166165782C>T, rs2305089, rs61421018, XP_011534382.1:p.Gly177Asp, rs52793205, NG_012135.1:g.7862G>A, 61421018, NG_012135.1:g.7862=, NM_003181.3:c.530G>A, NP_001257413.1:p.Gly177Asp, XP_011534383.1:p.Gly177Asp, XM_011536081.1:c.530G>A +PA166154888 rs2305364 PA387 SLC28A1 NC_000015.10:84909044 2 1 0 0 0 XM_011522205.1:c.795+249T>C, XM_011522209.1:c.717+3392T>C, XM_005254988.1:c.795+249T>C, XM_011522218.1:c.795+249T>C, XM_005254991.1:c.795+249T>C, XM_005254992.1:c.768+249T>C, XM_011522213.1:c.795+249T>C, XM_011522211.1:c.561+249T>C, NC_000015.9:g.85452275=, NC_000015.10:g.84909044=, XM_005254993.1:c.717+3392T>C, XM_011522215.1:c.795+249T>C, rs2305364, XR_931944.1:n.1001+249T>C, 2305364, XM_011522214.1:c.795+249T>C, XM_011522216.1:c.561+249T>C, XM_005254994.1:c.561+249T>C, XM_011522206.1:c.795+249T>C, XM_011522210.1:c.795+249T>C, NM_001287762.1:c.795+249T>C, XM_011522203.1:c.795+249T>C, XM_011522207.1:c.795+249T>C, XM_011522208.1:c.768+249T>C, NC_000015.10:g.84909044T>C, XR_931945.1:n.1001+249T>C, XM_005254995.1:c.795+249T>C, NM_001287761.1:c.795+249T>C, XM_011522204.1:c.795+249T>C, XM_011522212.1:c.795+249T>C, XM_005254990.1:c.795+249T>C, XM_005254989.1:c.795+249T>C, XM_011522217.1:c.795+249T>C, NC_000015.9:g.85452275T>C, NM_004213.4:c.795+249T>C +PA166179028 rs230539 PA248 NFKB1 NC_000004.12:102574375 1 0 0 0 0 4626207, NG_050628.1:g.78047G>A, NC_000004.11:g.103495532=, 61218327, NC_000004.12:g.102574375=, rs230539, NG_050628.1:g.78047=, 548798, 230539, NC_000004.12:g.102574375G>A, NC_000004.11:g.103495532G>A, 1313881 +PA166155397 rs2305799 PA24448,PA134903355 ACP5,ZNF627 NC_000019.10:11576536 1 0 0 0 0 NM_001111035.1:c.442G>A, XM_011527780.1:c.-94+1183C>T, XP_011526371.1:p.Val148Met, NC_000019.9:g.11687351=, XM_005259939.3:c.442G>A, NG_028127.1:g.7451G>A, NM_001611.3:c.442G>A, NP_001104506.1:p.Val148Met, NM_001111036.1:c.442G>A, XP_005259995.1:p.Val148Met, XM_011528069.1:c.442G>A, NP_001602.1:p.Val148=, NC_000019.10:g.11576536C>T, XM_005259938.1:c.442G>A, 52817235, NC_000019.10:g.11576536=, NM_001111034.1:c.442G>A, NP_001104504.1:p.Val148Met, NP_001602.1:p.Val148Met, rs2305799, 2305799, NC_000019.9:g.11687351C>T, XP_005259996.1:p.Val148Met, NP_001104505.1:p.Val148Met, XM_005259939.1:c.442G>A, NG_028127.1:g.7451=, rs52817235 +PA166156553 rs2305948 PA30086 KDR NC_000004.12:55113391 14 0 0 0 0 rs52830740, NG_012004.1:g.17205G>T, NC_000004.11:g.55979558C>A, rs2305948, NG_012004.1:g.17205G>A, NC_000004.12:g.55113391=, NG_012004.1:g.17205=, 2305948, 56973163, NM_002253.2:c.889G>A, 386564519, 56532927, NC_000004.11:g.55979558=, 52830740, rs56532927, NP_002244.1:p.Val297=, NP_002244.1:p.Val297Leu, rs386564519, NC_000004.12:g.55113391C>A, NC_000004.12:g.55113391C>T, NC_000004.11:g.55979558C>T, NP_002244.1:p.Val297Ile, rs56973163 +PA166154367 rs2306168 PA35845 SLCO2B1 NC_000011.10:75196537 7 1 0 0 0 NM_001145212.2:c.1025C>T, NC_000011.10:g.75196537C>T, NC_000011.10:g.75196537=, XM_005273732.1:c.1109C>T, 58763761, NC_000011.9:g.74907582=, NM_007256.4:c.1457C>T, NG_027921.1:g.50551=, NM_001145211.2:c.1391C>T, NC_000011.9:g.74907582C>T, NP_001138683.1:p.Ser464Phe, XP_005273789.1:p.Ser370Phe, 2306168, NP_009187.1:p.Ser486=, NP_001138684.1:p.Ser342Phe, rs2306168, NG_027921.1:g.50551C>T, rs58763761, NP_009187.1:p.Ser486Phe +PA166154546 rs2306282 PA134865839 SLCO1B1 NC_000012.12:21176868 1 0 0 0 0 NC_000012.12:g.21176868A>G, NC_000012.11:g.21329802A>G, NG_011745.1:g.50675=, NP_006437.3:p.Asn151Ser, 52806197, NG_011745.1:g.50675A>G, NC_000012.11:g.21329802=, rs2306282, 2306282, rs52806197, NC_000012.12:g.21176868=, NP_006437.3:p.Asn151=, NM_006446.4:c.452A>G +PA166154547 rs2306283 PA134865839 SLCO1B1 NC_000012.12:21176804 153 33 18 0 1 NG_011745.1:g.50611=, NG_011745.1:g.50611A>G, rs52832430, NG_011745.1:g.50611A>C, NC_000012.11:g.21329738=, NC_000012.12:g.21176804A>C, NP_006437.3:p.Asn130His, rs17389242, NP_006437.3:p.Asn130Tyr, NC_000012.12:g.21176804A>T, NP_006437.3:p.Asn130Asp, 17389242, NC_000012.11:g.21329738A>C, NM_006446.4:c.388A>G, NC_000012.11:g.21329738A>G, NC_000012.12:g.21176804A>G, NG_011745.1:g.50611A>T, NP_006437.3:p.Asn130=, rs2306283, 60767041, NC_000012.12:g.21176804=, NC_000012.11:g.21329738A>T, rs60767041, 2306283, 52832430 +PA166154889 rs2306719 PA25987 CA12 NC_000015.10:63341039 1 1 0 0 0 NG_028022.1:g.45838A>G, XR_932358.1:n.768-775T>C, XM_005254655.1:c.346-256A>G, 2306719, NM_001218.4:c.526-256A>G, NM_001293642.1:c.346-256A>G, rs17763221, rs2306719, NM_206925.2:c.526-256A>G, NC_000015.9:g.63633238=, NC_000015.10:g.63341039=, rs59688855, 59688855, NC_000015.9:g.63633238T>C, NC_000015.10:g.63341039T>C, NG_028022.2:g.46128A>G, 17763221, NG_028022.2:g.46128= +PA166156554 rs2306744 PA137 DCK NC_000004.12:70993635 2 1 0 0 0 NG_023303.1:g.5088C>T, NC_000004.12:g.70993635C>A, NC_000004.12:g.70993635C>G, NC_000004.11:g.71859352C>A, 2306744, NC_000004.11:g.71859352=, NC_000004.11:g.71859352C>G, NC_000004.12:g.70993635C>T, rs2306744, NG_023303.1:g.5088C>A, NC_000004.12:g.70993635=, NG_023303.1:g.5088C>G, NM_000788.2:c.-201C>T, NC_000004.11:g.71859352C>T, NG_023303.1:g.5088= +PA166154368 rs2306862 PA30455 LRP5 NC_000011.10:68410042 1 0 0 0 0 XM_005273994.2:c.2220C>T, XP_011543332.1:p.Asn749=, NP_002326.2:p.Asn740=, NG_015835.2:g.102403=, XP_011543331.1:p.Asn749=, NC_000011.10:g.68410042=, rs59591801, XP_005274051.1:p.Asn740=, NM_002335.3:c.2220C>T, XP_011543333.1:p.Asn749=, NG_015835.1:g.102403=, XM_011545029.1:c.2247C>T, XM_005273994.1:c.2220C>T, rs17847936, NC_000011.9:g.68177510C>T, NG_015835.1:g.102403C>T, NG_015835.2:g.102403C>T, NC_000011.9:g.68177510=, rs2306862, NM_001291902.1:c.477C>T, 2306862, 17847936, NC_000011.10:g.68410042C>T, XR_949926.1:n.2262C>T, XM_011545030.1:c.2247C>T, XM_011545031.1:c.2247C>T, 59591801, NP_001278831.1:p.Asn159=, XR_949925.1:n.2262C>T +PA166156555 rs2306987 PA164719952 FAT1 NC_000004.12:186595501 1 0 0 0 0 NM_005245.3:c.13138+188A>T, rs17692394, NC_000004.12:g.186595501T>G, NC_000004.12:g.186595501=, NC_000004.11:g.187516655=, NC_000004.12:g.186595501T>C, NC_000004.11:g.187516655T>G, NG_046994.1:g.136415=, NG_046994.1:g.136415A>C, rs2306987, 2306987, NC_000004.12:g.186595501T>A, NC_000004.11:g.187516655T>C, NG_046994.1:g.136415A>G, NC_000004.11:g.187516655T>A, 17692394, XM_005262834.1:c.13138+188A>T, XM_005262834.2:c.13138+188A>T, XM_005262835.1:c.13138+188A>T, NG_046994.1:g.136415A>T, XM_006714139.2:c.13138+188A>T +PA166156556 rs2306990 PA164719952 FAT1 NC_000004.12:186597822 1 0 0 0 0 XM_005262834.1:c.12258-30G>A, NC_000004.12:g.186597822C>A, NC_000004.11:g.187518976C>G, NM_005245.3:c.12258-30G>A, NC_000004.12:g.186597822=, NC_000004.11:g.187518976=, XM_005262834.2:c.12258-30G>A, NC_000004.11:g.187518976C>T, NC_000004.12:g.186597822C>G, NG_046994.1:g.134094G>A, NG_046994.1:g.134094G>C, rs2306990, 2306990, NC_000004.12:g.186597822C>T, XM_005262835.1:c.12258-30G>A, XM_006714139.2:c.12258-30G>A, NC_000004.11:g.187518976C>A, NG_046994.1:g.134094G>T, NG_046994.1:g.134094= +PA166154548 rs2307024 PA396 ABCC9 NC_000012.12:21852069 1 0 0 0 0 XM_005253289.2:c.2730+28A>C, XM_005253286.2:c.2769+28A>C, XM_005253289.1:c.2730+28A>C, XM_005253286.1:c.2769+28A>C, NG_012819.1:g.89626=, NG_012819.1:g.89626A>T, NM_005691.3:c.2769+28A>C, XM_005253287.3:c.2769+28A>C, NC_000012.12:g.21852069=, NM_005691.2:c.2769+28A>C, NM_020297.3:c.2769+28A>C, rs2307024, 2307024, NM_020297.2:c.2769+28A>C, XM_005253287.1:c.2769+28A>C, XM_005253291.1:c.2769+28A>C, NC_000012.12:g.21852069T>A, NC_000012.11:g.22005003T>A, NC_000012.12:g.21852069T>G, NC_000012.11:g.22005003=, XM_005253288.1:c.2769+28A>C, NC_000012.11:g.22005003T>G, XM_005253288.2:c.2769+28A>C, XM_006719025.2:c.2730+28A>C, XM_011520545.1:c.2769+28A>C, XM_005253285.1:c.2769+28A>C, rs59476731, XM_005253284.2:c.2769+28A>C, XM_005253284.1:c.2769+28A>C, 59476731, XM_005253290.2:c.2628+28A>C, NG_012819.1:g.89626A>C, XM_005253290.1:c.2628+28A>C +PA166304801 rs2307040 PA26047 CALU NC_000007.14:128754552 1 0 0 0 0 NC_000007.13:g.128394606=, NG_033110.1:g.20261C>G, NP_001124146.1:p.Ala82Gly, 11545530, NC_000007.14:g.128754552C>T, NC_000007.13:g.128394606C>T, NC_000007.14:g.128754552=, NC_000007.14:g.128754552C>G, NP_001124146.1:p.Ala82Val, NG_033110.1:g.20261=, NC_000007.13:g.128394606C>G, NG_033110.1:g.20261C>T, 2307040, rs2307040, 52803804, NP_001124146.1:p.Ala82= +PA166285121 rs2307116 PA145148868,PA31277 FASTKD3,MTRR NC_000005.10:7861872 2 2 0 0 0 rs2307116, NC_000005.9:g.7861985G>A, 2307116, NC_000005.10:g.7861872=, NG_033101.1:g.12166C>T, NC_000005.10:g.7861872G>A, 116978500, 58429960, 386564581, NC_000005.9:g.7861985=, NG_033101.1:g.12166= +PA166155039 rs2307240 PA107 CES1 NC_000016.10:55828800 5 1 0 0 0 NM_001266.4:c.224G>A, XP_011545297.1:p.Ser76Asn, XP_005255831.1:p.Ser76Asn, NC_000016.9:g.55862712=, NP_001257.4:p.Ser75Asn, XM_005276867.1:c.227G>A, NP_001020366.1:p.Ser76Asn, XM_005255774.1:c.227G>A, rs2307240, XP_005276924.1:p.Ser76Asn, 2307240, NC_000016.10:g.55828800=, NM_001025194.1:c.224G>A, XM_011522816.1:c.227G>A, NG_012057.1:g.9364G>A, NC_000016.10:g.55828800C>T, NW_003315945.1:g.52681C>T, NC_000016.9:g.55862712C>T, NM_001025195.1:c.227G>A, XM_011546995.1:c.227G>A, XP_011521118.1:p.Ser76Asn, 52810343, NP_001020365.1:p.Ser75Asn, NG_012057.1:g.9364=, rs52810343, NP_001257.4:p.Ser75= +PA166171210 rs2307243 PA107 CES1 NC_000016.10:55821462 1 0 0 0 0 NG_012057.1:g.16702=, NC_000016.10:g.55821462C>A, NG_012057.1:g.16702G>A, NP_001257.4:p.Arg199His, NC_000016.9:g.55855374C>T, NG_012057.1:g.16702G>T, NP_001257.4:p.Arg199=, NP_001257.4:p.Arg199Leu, NC_000016.10:g.55821462C>T, rs2307243, 2307243, NC_000016.9:g.55855374=, NC_000016.10:g.55821462=, NC_000016.9:g.55855374C>A +PA166170253 rs2307418 PA391,PA142670714 NR1I3,TOMM40L NC_000001.11:161230796 1 0 0 0 0 NC_000001.11:g.161230796T>G, 59634807, NC_000001.10:g.161200586T>G, NG_029113.1:g.12415=, NC_000001.11:g.161230796=, 17397854, NG_029113.1:g.12415A>C, NC_000001.10:g.161200586=, rs2307418, 2307418 +PA166153700 rs2307424 PA391 NR1I3 NC_000001.11:161232815 13 1 0 0 0 NG_029113.1:g.10396=, NP_001070947.1:p.Pro151=, XM_005245698.1:c.455-1341C>T, NP_001070945.1:p.Pro151=, NM_001077480.2:c.540C>T, XM_005245693.1:c.756C>T, NM_001077478.2:c.540C>T, NM_001077472.2:c.453C>T, NM_001077475.2:c.453C>T, rs58418822, XM_005245696.1:c.666C>T, NP_001070950.1:p.Pro180=, NP_005113.1:p.Pro180=, XM_005245695.1:c.756C>T, 58418822, XM_005245697.3:c.540C>T, XP_005245753.1:p.Pro222=, NC_000001.10:g.161202605G>A, NP_001070943.1:p.Pro151=, NP_001070944.1:p.Pro151=, NM_001077470.2:c.453C>T, NM_001077477.2:c.453C>T, NP_001070940.1:p.Pro151=, NC_000001.11:g.161232815G>A, NP_001070941.1:p.Pro151=, XM_005245699.1:c.455-1341C>T, XM_005245694.1:c.756C>T, NM_001077474.2:c.540C>T, XP_005245754.1:p.Pro180=, NM_001077476.2:c.453C>T, NM_001077473.2:c.453C>T, XM_011510237.1:c.756C>T, rs2307424, 2307424, NP_001070942.1:p.Pro180=, NM_001077479.2:c.453C>T, NP_001070938.1:p.Pro151=, NM_005122.4:c.540C>T, XP_005245750.1:p.Pro252=, XP_005245751.1:p.Pro252=, XM_005245694.3:c.756C>T, NP_001070939.1:p.Pro180=, NC_000001.10:g.161202605=, NC_000001.11:g.161232815=, XP_005245752.1:p.Pro252=, NM_001077482.2:c.540C>T, XM_005245693.3:c.756C>T, NP_001070946.1:p.Pro180=, NG_029113.1:g.10396C>T, NM_001077481.2:c.540C>T, NP_001070949.1:p.Pro180=, NM_001077471.2:c.540C>T, XP_011508539.1:p.Pro252=, NM_001077469.2:c.540C>T, NP_001070937.1:p.Pro180=, NP_001070948.1:p.Pro180=, XM_005245697.1:c.540C>T +PA166154890 rs2307441 PA33500 POLG NC_000015.10:89318595 1 0 0 0 0 NP_001119603.1:p.Glu1143Gly, 3176226, rs3176226, NG_011736.1:g.79633T>C, NC_000015.10:g.89318595=, rs17804944, NM_001126131.1:c.3428A>G, NG_011736.1:g.79633=, NG_008218.1:g.21201A>G, NG_008218.2:g.21201=, NM_002693.2:c.3428A>G, rs2307441, NC_000015.9:g.89861826T>C, 2307441, NP_002684.1:p.Glu1143=, NC_000015.9:g.89861826=, NC_000015.10:g.89318595T>C, NP_002684.1:p.Glu1143Gly, NG_008218.2:g.21201A>G, 17804944 +PA166171108 rs2307486 PA201059,PA32834 APEX1,OSGEP NC_000014.9:20456045 1 0 0 0 0 NP_001632.2:p.Ile64Val, 52831488, NG_008718.1:g.5915A>G, rs2307486, NC_000014.8:g.20924204A>G, 2307486, NC_000014.9:g.20456045=, NG_008718.1:g.5915=, NC_000014.8:g.20924204=, NP_001632.2:p.Ile64=, NC_000014.9:g.20456045A>G +PA166154012 rs2308321 PA239 MGMT NC_000010.11:129766800 1 0 0 0 0 NP_002403.3:p.Ile143Val, NM_002412.4:c.520A>G, NC_000010.11:g.129766800=, XM_011540451.1:c.-1790A>G, XM_005252682.2:c.427A>G, XP_006717926.1:p.Ile84Val, 60279652, NP_002403.3:p.Ile143=, NP_002403.2:p.Ile174Val, rs60279652, 17406533, XM_011539817.1:c.436A>G, XP_011538119.1:p.Ile146Val, XM_006717863.2:c.250A>G, NC_000010.10:g.131565064=, NC_000010.11:g.129766800A>G, NG_052673.1:g.304617=, 2308321, rs2308321, XP_005252739.1:p.Ile143Val, NC_000010.10:g.131565064A>G, NG_052673.1:g.304617A>G, rs17406533, XM_005252682.1:c.427A>G +PA166154013 rs2308327 PA239 MGMT NC_000010.11:129766906 1 0 0 0 0 NP_002403.3:p.Lys178=, XM_011540451.1:c.-1684A>G, NM_002412.4:c.626A>G, NC_000010.10:g.131565170A>G, XP_006717926.1:p.Lys119Arg, XM_005252682.2:c.533A>G, XM_006717863.2:c.356A>G, NC_000010.11:g.129766906A>G, XM_005252682.1:c.533A>G, XM_011539817.1:c.542A>G, XP_011538119.1:p.Lys181Arg, 2308327, rs2308327, NC_000010.10:g.131565170=, NC_000010.11:g.129766906=, NP_002403.3:p.Lys178Arg, XP_005252739.1:p.Lys178Arg, NG_052673.1:g.304723A>G, NP_002403.2:p.Lys209Arg, NG_052673.1:g.304723= +PA166155208 rs2314339 PA31748,PA36507 NR1D1,THRA NC_000017.11:40096959 1 1 0 0 0 NC_000017.11:g.40096959=, NC_000017.10:g.38253212C>A, NC_000017.11:g.40096959C>T, NG_033084.1:g.8767=, rs59804094, NG_033084.1:g.8767G>C, NC_000017.10:g.38253212=, NG_033084.1:g.8767G>A, NC_000017.11:g.40096959C>G, NC_000017.10:g.38253212C>T, NC_000017.10:g.38253212C>G, NM_021724.4:c.370+106G>A, 2314339, NG_033084.1:g.8767G>T, rs2314339, 59804094, NC_000017.11:g.40096959C>A +PA166162484 rs2317676 PA205 ITGB3 NC_000017.11:47310917 1 0 0 0 0 NC_000017.10:g.45388283A>G, NG_008332.2:g.62076=, 3809864, NC_000017.11:g.47310917=, 2317676, 57312621, rs2317676, NC_000017.10:g.45388283=, NC_000017.11:g.47310917A>G, NG_008332.2:g.62076A>G +PA166155589 rs231775 PA27006 CTLA4 NC_000002.12:203867991 6 2 0 0 0 XR_241294.1:n.189A>G, NM_001037631.2:c.49A>G, NM_005214.4:c.49A>G, rs57563726, NC_000002.11:g.204732714=, NC_000002.12:g.203867991A>T, NC_000002.11:g.204732714A>G, NP_005205.2:p.Thr17Ser, NG_011502.1:g.5206A>T, NG_011502.1:g.5206=, rs231775, NC_000002.12:g.203867991A>G, NP_001032720.1:p.Thr17Ala, NC_000002.11:g.204732714A>T, 231775, 57563726, NP_005205.2:p.Thr17=, NC_000002.12:g.203867991=, NG_011502.1:g.5206A>G, NP_005205.2:p.Thr17Ala +PA166154271 rs232043 PA298 RRM1 NC_000011.10:4117895 1 1 0 0 0 NC_000011.9:g.4139125=, NM_001033.4:c.651-425G>A, XM_005253058.1:c.408-425G>A, NC_000011.9:g.4139125G>A, NM_001318065.1:c.-406-425G>A, 232043, NG_027992.2:g.28202G>A, XM_005253059.1:c.360-425G>A, rs232043, 1662167, NC_000011.10:g.4117895=, NC_000011.10:g.4117895G>A, rs1662167, NM_001318064.1:c.360-425G>A, XM_011520277.1:c.360-425G>A, XM_011520278.1:c.-16-425G>A, XM_011520279.1:c.-406-425G>A, NM_001033.3:c.651-425G>A, NG_027992.2:g.28202= +PA166283401 rs2330951 PA7360 EGFR NC_000007.14:55106649 1 1 0 0 0 NG_007726.3:g.92618C>T, NC_000007.13:g.55174342C>T, 17515529, NC_000007.14:g.55106649C>T, NC_000007.13:g.55174342=, 57648321, NG_007726.3:g.92618C>A, NC_000007.13:g.55174342C>A, rs2330951, 2330951, NC_000007.14:g.55106649C>A, NC_000007.14:g.55106649=, NG_007726.3:g.92618= +PA166156557 rs2331559 NC_000004.12:68812655 1 0 0 0 0 117252565, NC_000004.11:g.69678373C>A, rs117252565, NC_000004.12:g.68812655=, NT_167250.1:g.390624C>G, rs115880803, NC_000004.11:g.69678373=, NC_000004.12:g.68812655C>G, NT_167250.2:g.388674C>G, NC_000004.11:g.69678373C>G, 115880803, rs2331559, NC_000004.12:g.68812655C>A, 2331559 +PA166161241 rs2333227 PA243 MPO NC_000017.11:58281401 1 0 0 0 0 NC_000017.11:g.58281401=, NC_000017.11:g.58281401C>T, NG_009629.1:g.4535G>C, NG_009629.1:g.4535=, NC_000017.10:g.56358762=, NC_000017.10:g.56358762C>G, NG_044959.1:g.1914C>G, NG_009629.1:g.4535G>A, rs2333227, 2333227, NC_000017.11:g.58281401C>G, 58767441, NC_000017.10:g.56358762C>T, NG_044959.1:g.1914=, NG_044959.1:g.1914C>T +PA166253284 rs2336219 PA155 ERCC1 NC_000019.10:45409148 1 1 0 0 0 NC_000019.10:g.45409148=, NC_000019.9:g.45912406=, NG_015839.2:g.74681C>G, NC_000019.10:g.45409148G>C, NP_001284519.1:p.Asp396Asn, NC_000019.10:g.45409148G>A, 2336219, 111197084, NC_000019.9:g.45912406G>C, rs2336219, NC_000019.9:g.45912406G>A, NG_015839.2:g.74681=, NG_015839.2:g.74681C>T, NP_001284519.1:p.Asp396=, 61002808, NP_001284519.1:p.Asp396His +PA166183950 rs2337980 PA114 CHRNA7 NC_000015.10:32151995 1 1 0 0 0 17604989, NC_000015.10:g.32151995=, NG_009216.1:g.126471C>T, 2337980, NG_009216.1:g.126471=, rs2337980, 60964757, NC_000015.10:g.32151995C>T, NC_000015.9:g.32444196=, NC_000015.9:g.32444196C>T +PA166156898 rs2338 PA28217 FOXC1 NC_000006.12:1573378 1 0 0 0 0 NC_000006.11:g.1573613G>A, 2338, rs2338, NC_000006.12:g.1573378G>A, rs56487808, NC_000006.12:g.1573378=, NC_000006.11:g.1573613=, 56487808, rs60527890, 60527890 +PA166181226 rs2345039 PA134968284 ADGRL3 NC_000004.12:61899312 2 0 0 0 0 2345039, NC_000004.12:g.61899312G>C, 17828540, NC_000004.12:g.61899312=, NC_000004.11:g.62765030G>C, rs2345039, NG_033950.2:g.703057G>C, NC_000004.11:g.62765030=, 45630361, NG_033950.2:g.703057= +PA166155977 rs234709 PA26123 CBS NC_000021.9:43066854 1 0 0 0 0 XM_011529776.1:c.280-242G>A, XM_011529778.1:c.317-477G>A, rs234709, XM_011529781.1:c.317-477G>A, XM_011529773.1:c.280-242G>A, NG_008938.1:g.14077=, NM_001178009.1:c.317-477G>A, XM_011529775.1:c.280-242G>A, NG_008938.1:g.14077G>A, XM_011529784.1:c.2-477G>A, XM_011529777.1:c.317-477G>A, NC_000021.9:g.43066854C>T, XM_011529779.1:c.317-477G>A, 234709, NC_000021.8:g.44486964=, NC_000021.9:g.43066854=, rs59609945, 59609945, NM_000071.2:c.317-477G>A, XM_011529774.1:c.280-242G>A, XM_011529782.1:c.317-477G>A, NC_000021.8:g.44486964C>T, NM_001178008.1:c.317-477G>A, XM_011529783.1:c.2-477G>A +PA166169476 rs2347128 PA36055 SPARC NC_000005.10:151678146 1 0 0 0 0 NC_000005.10:g.151678146C>T, NC_000005.9:g.151057707C>T, NG_042174.1:g.13909G>C, NG_042174.1:g.13909G>A, 2347128, rs2347128, NG_042174.1:g.13909=, NC_000005.10:g.151678146C>G, NC_000005.10:g.151678146=, 57376853, NC_000005.9:g.151057707C>G, 74294706, NC_000005.9:g.151057707= +PA166154014 rs2357928 PA88 CACNB2 NC_000010.11:18260712 3 0 0 0 0 XM_011519660.1:c.-558G>A, NC_000010.10:g.18549641=, NG_016195.1:g.125036=, NC_000010.10:g.18549641G>A, NC_000010.10:g.18549641G>C, rs56440692, XM_005252590.1:c.213+109737G>A, NM_001167945.1:c.129+109737G>A, XM_005252589.1:c.-558G>A, NM_201593.2:c.213+109737G>A, NM_201571.3:c.129+109737G>A, 56440692, NM_201596.2:c.213+109737G>A, NG_016195.1:g.125036G>C, NG_016195.1:g.125036G>A, NM_201572.3:c.129+109737G>A, NM_201597.2:c.213+109737G>A, NC_000010.11:g.18260712=, 57538277, NM_000724.3:c.-558G>A, NC_000010.11:g.18260712G>C, rs57538277, rs2357928, NC_000010.11:g.18260712G>A, 2357928 +PA166156800 rs2358531 PA134888452 SV2C NC_000005.10:76183961 1 0 0 0 0 NC_000005.10:g.76183961G>A, XM_011543281.1:c.581-10958G>A, rs2358531, NC_000005.10:g.76183961=, rs57113003, 2358531, NC_000005.9:g.75479786G>A, NM_014979.3:c.581-10958G>A, XM_005248470.1:c.581-10958G>A, XM_011543282.1:c.9-25775G>A, NC_000005.9:g.75479786=, NM_001297716.1:c.581-10958G>A, 57113003 +PA166155040 rs2359612 PA165450635,PA133787052 PRSS53,VKORC1 NC_000016.10:31092475 17 1 0 0 0 XM_005255568.1:c.367+308T>C, NG_011564.1:g.7481=, XR_950848.1:n.1071+837T>C, XM_011545945.1:c.174-1133T>C, 17884333, NC_000016.10:g.31092475=, NC_000016.9:g.31103796A>G, NG_011564.1:g.7481T>C, NM_206824.2:c.174-1133T>C, XM_011545943.1:c.367+308T>C, XM_011545944.1:c.283+837T>C, NM_024006.5:c.283+837T>C, NC_000016.9:g.31103796=, rs2359612, 2359612, NC_000016.10:g.31092475A>G, rs17884333, XR_243303.1:n.832+837T>C, NM_001311311.1:c.367+308T>C +PA166186661 rs2364349 PA37949 SNX9 NC_000006.12:157939659 1 0 0 0 0 NC_000006.12:g.157939659G>A, 386565735, NC_000006.11:g.158360691=, NC_000006.11:g.158360691G>A, rs2364349, 2364349, NC_000006.12:g.157939659= +PA166205161 rs2366929 PA134960779 ADGRV1 NC_000005.10:90730817 1 1 0 0 0 NG_007083.2:g.206474T>A, NC_000005.9:g.90026634T>C, NC_000005.10:g.90730817=, NG_007083.2:g.206474T>C, NC_000005.10:g.90730817T>A, NC_000005.9:g.90026634=, NC_000005.9:g.90026634T>A, 17623741, 2366929, NC_000005.10:g.90730817T>C, NG_007083.2:g.206474=, rs2366929 +PA166154015 rs2368393 PA164722900,PA36265 MIR604,SVIL NC_000010.11:29545069 1 0 0 0 0 XM_005252571.1:c.827+5528T>C, XM_011519630.1:c.827+5528T>C, NM_003174.3:c.827+5528T>C, XM_011519635.1:c.827+5528T>C, XM_011519638.1:c.827+5528T>C, XM_005252570.2:c.827+5528T>C, XM_005252566.1:c.1061+5528T>C, XM_011519632.1:c.827+5528T>C, XM_005252568.1:c.1061+5528T>C, XM_011519640.1:c.827+5528T>C, NG_033998.1:g.195733T>C, NC_000010.10:g.29833998A>G, XM_005252567.1:c.1061+5528T>C, NC_000010.10:g.29833998A>C, XM_005252569.1:c.1061+5528T>C, NC_000010.10:g.29833998=, XM_011519637.1:c.827+5528T>C, XM_005252571.2:c.827+5528T>C, NC_000010.11:g.29545069=, XM_011519631.1:c.827+5528T>C, XM_011519634.1:c.827+5528T>C, XM_005252570.1:c.827+5528T>C, NM_021738.2:c.827+5528T>C, NG_033998.1:g.195733T>G, XM_005252564.1:c.1061+5528T>C, XM_005252573.2:c.827+5528T>C, NG_033998.1:g.195733=, XM_005252573.1:c.827+5528T>C, NC_000010.11:g.29545069A>C, XM_005252572.1:c.827+5528T>C, XM_011519633.1:c.827+5528T>C, rs2368393, 2368393, NR_030335.1:n.29T>C, XM_011519636.1:c.827+5528T>C, NC_000010.11:g.29545069A>G, XM_005252565.1:c.1061+5528T>C, XM_011519639.1:c.827+5528T>C +PA166153701 rs2368564 PA297 REN NC_000001.11:204155737 1 1 0 0 0 NC_000001.10:g.204124865=, 2368564, NC_000001.11:g.204155737C>T, rs56613091, rs57477079, NC_000001.10:g.204124865C>G, NG_012122.1:g.15601G>C, 57293043, NC_000001.10:g.204124865C>T, 56613091, NC_000001.11:g.204155737=, 57477079, rs57293043, NG_012122.1:g.15601=, NM_000537.3:c.1059+83G>A, NG_012122.1:g.15601G>A, rs2368564, NC_000001.11:g.204155737C>G +PA166154791 rs2369049 PA36400 TCL1A NC_000014.9:95705514 6 0 0 0 0 rs2369049, 2369049, NC_000014.8:g.96171851=, NC_000014.8:g.96171851A>G, 60020248, NC_000014.9:g.95705514=, NC_000014.9:g.95705514A>G, rs60020248 +PA166203442 rs237024 PA134979206,PA30605 SUMO4,TAB2 NC_000006.12:149400829 1 0 0 0 0 NC_000006.12:g.149400829T>C, NC_000006.12:g.149400829T>A, NC_000006.11:g.149721965T>G, NG_012301.1:g.5471T>G, NC_000006.12:g.149400829T>G, NG_012301.1:g.5471T>A, 237024, NG_012301.1:g.5471T>C, NC_000006.11:g.149721965T>A, NC_000006.11:g.149721965T>C, rs237024, NG_021386.2:g.187906T>C, NC_000006.11:g.149721965=, NC_000006.12:g.149400829=, NG_021386.2:g.187906T>A, NG_012301.1:g.5471=, NG_021386.2:g.187906=, NG_021386.2:g.187906T>G +PA166176908 rs237025 PA134979206,PA30605 SUMO4,TAB2 NC_000006.12:149400554 2 1 0 0 0 NC_000006.11:g.149721690G>T, 112553907, NG_012301.1:g.5196G>T, NC_000006.12:g.149400554=, NG_021386.2:g.187631=, NP_001002255.1:p.Val55=, 237025, NC_000006.11:g.149721690=, NG_021386.2:g.187631G>T, NC_000006.12:g.149400554G>T, 58265939, NC_000006.12:g.149400554G>A, rs237025, NC_000006.11:g.149721690G>A, NG_012301.1:g.5196G>A, NG_012301.1:g.5196=, 17875289, NP_001002255.1:p.Val55Leu, NP_001002255.1:p.Val55Met, NG_021386.2:g.187631G>A +PA166170798 rs2371108 PA27806 EOMES NC_000003.12:27715527 1 0 0 0 0 rs2371108, 2371108, 60681036, NC_000003.11:g.27757018=, NC_000003.12:g.27715527G>C, NC_000003.11:g.27757018G>C, NC_000003.12:g.27715527G>T, NC_000003.11:g.27757018G>T, NG_042182.1:g.12189C>A, NG_042182.1:g.12189=, NG_042182.1:g.12189C>G, NC_000003.12:g.27715527= +PA166155684 rs2372536 PA25094 ATIC NC_000002.12:215325297 23 1 0 0 0 2372536, 52824931, rs2372536, 3821352, NC_000002.12:g.215325297C>G, rs52824931, rs3821352, NC_000002.12:g.215325297=, NM_004044.6:c.347C>G, NP_004035.2:p.Thr116Ser, NC_000002.11:g.216190020C>G, NC_000002.11:g.216190020=, NG_013002.1:g.18342=, NP_004035.2:p.Thr116=, NG_013002.1:g.18342C>G +PA166161545 rs2373586 PA267 ABCB1 NC_000007.14:87528267 1 0 0 0 0 NG_011513.1:g.189982T>G, 4728698, NC_000007.14:g.87528267A>C, NG_011513.1:g.189982=, rs2373586, 2373586, NC_000007.14:g.87528267=, NC_000007.13:g.87157583=, NC_000007.13:g.87157583A>C, 59773940 +PA166258303 rs2376805 PA28498 GABRD NC_000001.11:2024923 1 0 0 0 0 2376805, NC_000001.11:g.2024923G>T, rs2376805, NG_008168.1:g.10595G>T, NC_000001.10:g.1956362=, NC_000001.10:g.1956362G>C, NC_000001.10:g.1956362G>A, NC_000001.11:g.2024923G>A, 3737635, NC_000001.11:g.2024923G>C, NG_008168.1:g.10595G>A, NC_000001.10:g.1956362G>T, NG_008168.1:g.10595G>C, NG_008168.1:g.10595=, NC_000001.11:g.2024923= +PA166155283 rs2377898 PA128394616 MTCL1 NC_000018.10:8730055 1 0 0 0 0 XM_005258098.1:c.1437+9559G>A, XM_011525640.1:c.1437+9559G>A, NC_000018.10:g.8730055=, NC_000018.9:g.8730053=, NC_000018.9:g.8730053G>A, 2377898, 61115045, XM_005258098.2:c.1437+9559G>A, XM_005258099.1:c.1437+9559G>A, rs61115045, XM_005258100.1:c.1437+9559G>A, rs2377898, XM_005258099.3:c.1437+9559G>A, NC_000018.10:g.8730055G>A, NM_015210.3:c.357+9559G>A, XM_011525641.1:c.1437+9559G>A +PA166153702 rs2378597 PA162376104 AIDA NC_000001.11:222690817 1 0 0 0 0 rs2378597, XR_247034.1:n.703+2972A>T, 2378597, NC_000001.10:g.222864159T>A, NC_000001.11:g.222690817=, XM_005273232.1:c.217+2972A>T, XR_921909.1:n.873+2972A>T, NC_000001.11:g.222690817T>A, NM_022831.2:c.289+2972A>T, NC_000001.10:g.222864159= +PA166157752 rs2378676 PA31818 NTRK2 NC_000009.12:85004508 1 1 0 0 0 XM_005252003.1:c.2173-15698A>C, NC_000009.12:g.85004508A>T, 57144681, NC_000009.11:g.87619423=, XM_005252004.1:c.2173-15698A>C, XM_005252005.1:c.2125-15698A>C, XM_011518718.1:c.2125-15698A>C, NC_000009.11:g.87619423A>C, NG_012201.2:g.340958A>C, NM_001018064.2:c.2125-15698A>C, rs2378676, XM_005252001.1:c.2173-15698A>C, NG_012201.2:g.340958=, 2378676, NC_000009.12:g.85004508A>C, rs17450937, NM_006180.4:c.2173-15698A>C, rs57144681, XM_005252002.1:c.2173-15698A>C, 17450937, NC_000009.12:g.85004508=, NC_000009.11:g.87619423A>T, NG_012201.2:g.340958A>T, XM_011518719.1:c.2125-15698A>C +PA166157695 rs238 PA134961240 ERCC6L2 NC_000009.12:96023994 1 1 0 0 0 rs17462368, NC_000009.11:g.98786276A>G, 694833, XR_929787.1:n.4096-14882A>G, NC_000009.11:g.98786276=, NC_000009.12:g.96023994A>C, NC_000009.11:g.98786276A>C, NC_000009.12:g.96023994A>G, rs238, NC_000009.12:g.96023994=, XM_011518645.1:c.3708-14882A>G, XR_930143.1:n.2136T>C, 238, 17462368, NC_000009.11:g.98786276A>T, NC_000009.12:g.96023994A>T, rs694833 +PA166155349 rs238406 PA27848 ERCC2 NC_000019.10:45365051 6 1 0 0 0 XM_005258642.1:c.468A>C, rs11543157, NC_000019.9:g.45868309=, rs17587147, rs59387636, XM_005258641.1:c.-271A>C, NC_000019.10:g.45365051=, XM_011526611.1:c.390A>C, XM_005258639.1:c.396A>C, NG_007067.2:g.10537=, 17587147, 59387636, XR_935763.1:n.515A>C, XP_005258699.1:p.Arg156=, XM_005258640.1:c.361-504A>C, XP_011524913.1:p.Arg130=, rs238406, NM_001130867.1:c.396A>C, XP_005258696.1:p.Arg132=, NP_001124339.1:p.Arg132=, 11543157, NG_007067.2:g.10537A>C, 238406, NC_000019.10:g.45365051T>G, NP_000391.1:p.Arg156=, 3859425, rs3859425, NC_000019.9:g.45868309T>G, NM_000400.3:c.468A>C +PA166157034 rs2389541 NC_000006.12:121452853 1 0 0 0 0 rs2389541, NC_000006.11:g.121773999T>C, rs17704561, NC_000006.12:g.121452853=, 57011493, NC_000006.11:g.121773999=, NC_000006.11:g.121773999T>A, rs57011493, NC_000006.12:g.121452853T>C, NC_000006.12:g.121452853T>A, 17704561, 2389541 +PA166155978 rs239022 PA25829 LINC00478 NC_000021.9:16329273 1 0 0 0 0 60714264, 239391, NR_111005.1:n.443-62341A>G, NC_000021.9:g.16329273A>T, NC_000021.8:g.17701594A>T, NR_027790.2:n.469+98159A>G, NR_027791.2:n.316-62340A>G, rs60714264, NC_000021.9:g.16329273A>G, rs239391, NR_111004.1:n.443-62341A>G, XR_244279.1:n.433-62340A>G, NC_000021.9:g.16329273A>C, 239022, 386566302, XR_244275.1:n.427-62340A>G, NC_000021.8:g.17701594=, NR_111005.1:n.443-62340A>G, NC_000021.9:g.16329273=, NR_027790.2:n.469+98158A>G, NR_027791.2:n.316-62341A>G, XR_244278.1:n.430-62340A>G, rs239022, NR_111004.1:n.443-62340A>G, NC_000021.8:g.17701594A>G, rs386566302, NC_000021.8:g.17701594A>C +PA166154712 rs2391191 PA134924986,PA165505093 DAOA,DAOA-AS1 NC_000013.11:105467097 2 0 0 0 0 NP_758958.3:p.Arg30=, NP_758958.3:p.Arg30Lys, XP_005254099.1:p.Arg30Lys, NC_000013.11:g.105467097=, 59455029, NC_000013.10:g.106119446G>C, NC_000013.10:g.106119446G>A, 2391191, NM_001161812.1:c.-105G>A, NG_012694.1:g.6231G>C, NG_012694.1:g.6231G>A, NG_012694.1:g.6231=, 52812974, rs2391191, NM_001161814.1:c.-125G>A, NC_000013.10:g.106119446=, NC_000013.11:g.105467097G>A, NM_172370.4:c.89G>A, rs52812974, NP_758958.3:p.Arg30Thr, rs59455029, NC_000013.11:g.105467097G>C, NR_040247.1:n.506-677C>T, XM_005254042.1:c.89G>A +PA166200821 rs2392165 NC_000007.14:33120302 2 1 0 0 0 4000124, NC_000007.13:g.33159914=, 9769875, NC_000007.13:g.33159914A>G, 4333489, NC_000007.14:g.33120302A>G, 9719309, rs2392165, 2392165, NC_000007.14:g.33120302= +PA166157035 rs2395029 PA134951826 HCP5 NC_000006.12:31464003 2 0 0 0 0 2395029, rs2395029, 60378661, NC_000006.11:g.31431780T>G, NT_167247.1:g.?T>G, 3997925, rs3997925, 114783691, NC_000006.12:g.31464003=, 111645003, NT_113891.2:g.2941434T>G, NT_113891.3:g.2941328T>G, NT_167249.2:g.2763252T>G, NC_000006.12:g.31464003T>G, NR_040662.1:n.733T>G, NT_167249.1:g.2762550T>G, rs111645003, NT_167247.2:g.?T>G, NC_000006.11:g.31431780=, rs114783691, rs60378661 +PA166155398 rs2396185 PA202 INSR NC_000019.10:7246650 2 1 0 0 0 NC_000019.10:g.7246650A>C, XM_011527989.1:c.730+20695T>G, rs61617931, NC_000019.10:g.7246650A>G, NC_000019.9:g.7246661A>G, NC_000019.9:g.7246661A>C, NG_008852.2:g.52351=, 2396185, XM_005259553.1:c.670+20695T>G, XM_005259554.1:c.541+20695T>G, NC_000019.9:g.7246661=, NM_000208.3:c.652+20695T>G, rs2396185, 61617931, NM_001079817.2:c.652+20695T>G, XM_011527988.1:c.730+20695T>G, NG_008852.2:g.52351T>C, NG_008852.2:g.52351T>G, XM_005259552.1:c.670+20695T>G, NC_000019.10:g.7246650= +PA166179916 rs2399496 PA27479 DRD3 NC_000003.12:114127166 1 0 0 0 0 57910338, NG_008842.2:g.77242A>C, rs2399496, NC_000003.12:g.114127166T>A, NC_000003.11:g.113846013T>G, NC_000003.12:g.114127166T>G, NC_000003.11:g.113846013=, NC_000003.11:g.113846013T>A, 2399496, NG_008842.2:g.77242=, NC_000003.12:g.114127166=, NG_008842.2:g.77242A>T +PA166156801 rs2400707 PA39 ADRB2 NC_000005.10:148825489 1 0 0 0 0 rs36218059, rs61017898, NC_000005.10:g.148825489A>G, rs58642759, NG_016421.2:g.3897A>T, 2400707, rs2400707, NM_000024.5:c.-1343A>G, XM_005268383.1:c.-1343A>G, XM_005268382.1:c.-1343A>G, NG_016421.1:g.3897=, NG_016421.2:g.3897A>G, 58642759, NC_000005.10:g.148825489=, NG_016421.2:g.3897=, NC_000005.9:g.148205052=, NG_016421.1:g.3897A>T, NC_000005.9:g.148205052A>G, 56628249, 36218059, 61017898, NC_000005.9:g.148205052A>T, rs56628249, NC_000005.10:g.148825489A>T, NG_016421.1:g.3897A>G +PA166154792 rs2401863 PA421 TDP1 NC_000014.9:89989844 1 0 0 0 0 XM_006720199.1:c.571+79G>T, NG_009164.1:g.38943=, XM_005267847.2:c.1366+79G>T, NC_000014.8:g.90456188G>T, XM_005267847.1:c.1366+79G>T, XM_005267849.1:c.1366+79G>T, NC_000014.8:g.90456188=, XM_011536944.1:c.1366+79G>T, NC_000014.9:g.89989844=, XM_011536941.1:c.1366+79G>T, NG_009164.1:g.38943G>A, rs34560941, NC_000014.8:g.90456188G>A, XM_011536943.1:c.1366+79G>T, 34560941, NC_000014.9:g.89989844G>T, NG_009164.1:g.38943G>T, XM_006720198.2:c.1366+79G>T, NM_018319.3:c.1366+79G>T, XM_011536942.1:c.1366+79G>T, rs58608928, NM_001008744.1:c.1366+79G>T, 58608928, XM_006720197.2:c.1366+79G>T, 2401863, rs2401863, NC_000014.9:g.89989844G>A, XM_005267848.1:c.1366+79G>T, XM_006720200.2:c.571+79G>T +PA166160563 rs240993 PA34337 REV3L NC_000006.12:111352511 3 0 0 0 0 240993, 17511139, NG_053000.1:g.136205A>G, NC_000006.11:g.111673714=, NG_053000.1:g.136205A>T, NC_000006.11:g.111673714T>C, NC_000006.11:g.111673714T>A, NG_053000.1:g.136205=, 61096863, NC_000006.12:g.111352511=, NC_000006.12:g.111352511T>C, NC_000006.12:g.111352511T>A, rs240993 +PA166154891 rs2412459 PA134947616 EIF2AK4 NC_000015.10:40003758 2 2 0 0 0 NG_034053.1:g.74635C>T, XM_005254393.1:c.3357+444C>T, XM_011521600.1:c.3357+444C>T, 57614854, NG_034053.1:g.74635=, 2412459, rs2412459, NC_000015.9:g.40295959C>T, XM_011521599.1:c.3357+444C>T, NC_000015.10:g.40003758C>T, NM_001013703.3:c.3357+444C>T, rs57614854, NC_000015.10:g.40003758=, NC_000015.9:g.40295959=, XM_005254392.1:c.3357+444C>T +PA166156100 rs2413739 PA32897 PACSIN2 NC_000022.11:43001030 8 3 0 0 0 NC_000022.11:g.43001030C>T, NC_000022.10:g.43397036=, XM_005261319.3:c.-78+13991G>A, XM_011529853.1:c.-78+13991G>A, rs2413739, XM_005261319.1:c.-78+13991G>A, 2413739, NC_000022.11:g.43001030=, NM_001184970.1:c.-78+13991G>A, NC_000022.10:g.43397036C>T, XM_011529846.1:c.-78+13991G>A, XM_011529852.1:c.-64+13991G>A +PA166154892 rs2413775 PA386 SLC28A2 NC_000015.10:45252090 5 0 0 0 0 NC_000015.10:g.45252090T>A, XM_011522198.1:c.-230T>A, XR_243147.1:n.271-18A>T, rs59171024, NC_000015.9:g.45544288T>A, NC_000015.9:g.45544288=, XM_011522201.1:c.-205T>A, NC_000015.10:g.45252090=, XM_011522200.1:c.-205T>A, rs2413775, 2413775, rs3759897, 3759897, 59171024, NR_120335.1:n.181-18A>T, NM_004212.3:c.-205T>A, XM_011522199.1:c.-205T>A +PA166179496 rs241692 PA28140 FHIT NC_000003.12:60424454 1 0 0 0 0 242202, NG_007551.2:g.832006T>C, NG_007551.2:g.832006=, 61531280, NC_000003.11:g.60410187A>G, 241692, NC_000003.12:g.60424454=, NC_000003.11:g.60410187=, rs241692, NC_000003.12:g.60424454A>G +PA166181284 rs2417955 PA134865839 SLCO1B1 NC_000012.12:21143541 1 0 0 0 0 rs2417955, 60040479, NG_011745.1:g.17348=, NG_011745.1:g.17348T>A, 17329032, NC_000012.11:g.21296475=, 59441766, NC_000012.12:g.21143541T>A, NC_000012.11:g.21296475T>A, NC_000012.12:g.21143541=, 2417955 +PA166177178 rs2419128 NC_000001.11:168683252 1 1 0 0 0 NC_000001.10:g.168652490C>T, 17450265, NC_000001.11:g.168683252C>T, NC_000001.10:g.168652490=, NC_000001.11:g.168683252=, rs2419128, 2419128 +PA166195106 rs242557 PA238 MAPT NC_000017.11:45942346 1 0 0 0 0 242557, 60420337, NG_007398.2:g.52884G>A, 116803374, NC_000017.10:g.44019712=, 117877348, rs242557, NC_000017.10:g.44019712G>A, NC_000017.11:g.45942346=, NG_007398.1:g.52950A>G, NG_007398.2:g.52884=, NC_000017.11:g.45942346G>A, 3744458 +PA166178993 rs2425637 PA29349 HNF4A NC_000020.11:44395409 1 0 0 0 0 NC_000020.11:g.44395409G>T, NG_009818.1:g.44609G>A, NC_000020.11:g.44395409G>A, NC_000020.10:g.43024049G>A, NC_000020.11:g.44395409=, NC_000020.10:g.43024049=, NC_000020.10:g.43024049G>T, NG_009818.1:g.44609=, 2425637, rs2425637, 58461622, NG_009818.1:g.44609G>T +PA166179012 rs2425640 PA29349 HNF4A NC_000020.11:44399397 1 0 0 0 0 2425640, rs2425640, 3212171, NC_000020.10:g.43028037A>G, NC_000020.10:g.43028037=, NC_000020.11:g.44399397A>G, 56684319, NG_009818.1:g.48597A>G, NC_000020.11:g.44399397=, NG_009818.1:g.48597= +PA166155927 rs2425886 PA37881 SLC13A3 NC_000020.11:46631204 1 0 0 0 0 NC_000020.10:g.45259843T>C, XM_005260514.1:c.-559-17479A>G, NC_000020.10:g.45259843T>A, NM_001011554.2:c.-30-17479A>G, NM_001193339.1:c.112-17479A>G, NC_000020.10:g.45259843T>G, 58730670, NG_047182.1:g.58282=, NG_047182.1:g.58282A>C, NM_001193342.1:c.-10-17652A>G, NC_000020.11:g.46631204T>A, rs58730670, NC_000020.11:g.46631204T>C, NG_047182.1:g.58282A>G, NC_000020.11:g.46631204T>G, XM_005260513.1:c.112-17479A>G, NG_047182.1:g.58282A>T, 2425886, rs2425886, NM_001193340.1:c.-30-17479A>G, NM_022829.5:c.112-17479A>G, NC_000020.10:g.45259843=, NC_000020.11:g.46631204= +PA166153704 rs2427827 PA28056 FCER1A NC_000001.11:159302021 1 0 0 0 0 NC_000001.10:g.159271811T>G, rs60829060, NC_000001.10:g.159271811=, XM_005244956.1:c.-50-285T>C, NC_000001.10:g.159271811T>C, NC_000001.10:g.159271811T>A, 60829060, NC_000001.11:g.159302021T>A, 2427827, NC_000001.11:g.159302021=, rs2427827, NC_000001.11:g.159302021T>G, NC_000001.11:g.159302021T>C, NM_002001.3:c.-59-285T>C +PA166160192 rs242936 PA26874 CRHR1 NC_000017.11:45821843 1 0 0 0 0 NG_009902.1:g.42582G>A, NC_000017.10:g.43899209A>G, NC_000017.11:g.45821843A>G, 242936, 115535824, NG_009902.1:g.42582G>T, NC_000017.10:g.43899209=, rs242936, NC_000017.11:g.45821843=, NC_000017.10:g.43899209A>T, 386567026, NC_000017.11:g.45821843A>T, 117120866 +PA166155162 rs242939 PA26874 CRHR1 NC_000017.11:45818213 3 0 0 0 0 NM_001145148.1:c.241+1631T>C, 60872113, NM_001303016.1:c.24+1631C>T, NC_000017.11:g.45818213C=, 138269860, NM_001303018.1:c.-198-11002C>T, NC_000017.10:g.43895579C=, NT_187663.1:g.520335T=, NM_001145147.1:c.122-3142C>T, NC_000017.11:g.45818213=, rs138269860, NT_167251.2:g.969969A>G, NM_004382.4:c.241+1631C>T, 111231077, NM_001145146.1:c.241+1631T>C, XM_005257060.1:c.24+1631C>T, NT_167251.2:g.969969A=, NM_001256299.2:c.-285+1631C>T, rs56510730, NM_001303020.1:c.24+1631C>T, NG_009902.1:g.38952T>G, NM_001145148.1:c.241+1631C>T, NC_000017.11:g.45818213C>G, NG_009902.1:g.38952T>A, rs386567027, NC_000017.10:g.43895579C>T, NG_009902.1:g.38952T>C, NM_001303016.1:c.24+1631T>C, NC_000017.10:g.43895579=, 386567027, rs242939, 56510730, NM_001303018.1:c.-198-11002T>C, NG_009902.1:g.38952T=, NC_000017.10:g.43895579C>A, rs60872113, NM_001145147.1:c.122-3142T>C, NC_000017.10:g.43895579C>G, NC_000017.11:g.45818213C>A, rs111231077, NT_167251.1:g.971962A=, NM_004382.4:c.241+1631T>C, 242939, XM_005257060.1:c.24+1631T>C, NC_000017.11:g.45818213C>T, NM_001145146.1:c.241+1631C>T, NM_001256299.2:c.-285+1631T>C, NT_167251.1:g.971962A>G, NT_187663.1:g.520335T>C, NM_001303020.1:c.24+1631T>C +PA166155163 rs242941 PA26874 CRHR1 NC_000017.11:45815154 5 1 0 0 0 NG_009902.1:g.35892C>A, 242941, NT_167251.2:g.973010G=, NM_001303018.1:c.-199+8057A>C, NM_001303018.1:c.-199+8057C>A, NT_187663.1:g.517276C=, 115964505, NM_001256299.2:c.-404-1309A>C, NM_001256299.2:c.-404-1309C>A, NT_167251.1:g.975003G=, NT_167251.2:g.973010G>T, NM_001303016.1:c.-96-1309A>C, NM_001303016.1:c.-96-1309C>A, 143896677, NM_004382.4:c.122-1310A>C, NM_004382.4:c.122-1310C>A, NC_000017.11:g.45815154A=, NM_001145148.1:c.122-1310A>C, NM_001145148.1:c.122-1310C>A, 117048103, NC_000017.10:g.43892520=, rs115964505, NM_001303020.1:c.-96-1310A>C, NM_001303020.1:c.-96-1310C>A, NC_000017.10:g.43892520A>T, rs143896677, rs117048103, NC_000017.11:g.45815154=, NM_001145147.1:c.122-6202A>C, NM_001145147.1:c.122-6202C>A, NT_167251.1:g.975003G>T, NC_000017.11:g.45815154A>C, NG_009902.1:g.35892C>T, XM_005257060.1:c.-1405A>C, XM_005257060.1:c.-1405C>A, NC_000017.10:g.43892520A=, NC_000017.10:g.43892520A>C, NG_009902.1:g.35892C=, rs57804702, NM_001145146.1:c.122-1310A>C, NM_001145146.1:c.122-1310C>A, NT_187663.1:g.517276C>A, NC_000017.11:g.45815154A>T, rs242941, 57804702 +PA166155209 rs2429427 PA142670837 TANC2 NC_000017.11:63316455 1 1 0 0 0 rs2429427, XM_005257206.1:c.1219+1786G>A, XM_006721806.2:c.1441+1786G>A, XM_005257201.1:c.1219+1786G>A, XM_011524602.1:c.1219+1786G>A, NC_000017.11:g.63316455=, NC_000017.11:g.63316455G>A, XM_006721810.2:c.1441+1786G>A, 57701529, 56547043, XM_011524600.1:c.1330+1786G>A, rs56547043, NC_000017.10:g.61393816G>A, XM_005257203.1:c.1219+1786G>A, XM_011524599.1:c.1393+1786G>A, 2429427, XM_011524601.1:c.1330+1786G>A, XM_011524603.1:c.949+1786G>A, XM_011524597.1:c.1441+1786G>A, NM_025185.3:c.1219+1786G>A, NC_000017.10:g.61393816=, XM_006721811.2:c.1441+1786G>A, XM_011524598.1:c.1441+1786G>A, XM_005257202.1:c.1210+1786G>A, XM_005257204.1:c.1099+1786G>A, rs57701529, XM_006721807.2:c.1441+1786G>A, XM_005257203.3:c.1219+1786G>A, XM_005257205.1:c.1219+1786G>A +PA166177411 rs2430420 NC_000002.12:10436100 1 0 0 0 0 57694224, NC_000002.11:g.10576226G>A, rs2430420, 2430420, NC_000002.11:g.10576226=, NC_000002.12:g.10436100=, NC_000002.12:g.10436100G>A +PA166154549 rs2430561 PA29674 IFNG NC_000012.12:68158742 2 1 0 0 0 NM_000619.2:c.115-483A>T, NC_000012.11:g.68552522=, NC_000012.12:g.68158742=, NC_000012.12:g.68158742T>A, NG_015840.1:g.6000=, NC_000012.11:g.68552522T>A, 61923114, rs2430561, rs61923114, 2430561, NG_015840.1:g.6000A>T +PA166164987 rs2431697 NC_000005.10:160452971 1 0 0 0 0 NC_000005.10:g.160452971T>C, NC_000005.9:g.159879978T>C, 17411055, NC_000005.10:g.160452971=, NC_000005.9:g.159879978=, rs2431697, 2431697, 59665217 +PA166157576 rs2432742 PA134926063 CSMD3 NC_000008.11:112812829 1 0 0 0 0 rs17655328, NM_052900.2:c.1548-12555T>C, XM_011516809.1:c.1422-12555T>C, rs56512161, NM_198124.1:c.1740-12555T>C, XM_011516814.1:c.1740-12555T>C, 59758618, rs2432742, 2432742, XM_011516812.1:c.1740-12555T>C, NC_000008.10:g.113825058=, XM_011516810.1:c.1350-12555T>C, 17655328, XM_005250771.1:c.1740-12555T>C, NC_000008.11:g.112812829=, NM_198123.1:c.1860-12555T>C, NC_000008.11:g.112812829A>G, rs59758618, NC_000008.10:g.113825058A>G, 56512161, XM_011516808.1:c.1662-12555T>C, XM_011516816.1:c.1548-12555T>C +PA166156558 rs2433320 PA134917248 PDLIM5 NC_000004.12:94449654 2 1 0 0 0 56427096, NC_000004.12:g.94449654=, NC_000004.11:g.95370805=, rs56427096, rs2433320, NC_000004.11:g.95370805G>A, 2433320, 58884297, rs58884297, NC_000004.12:g.94449654G>A +PA166156559 rs2433322 PA134917248 PDLIM5 NC_000004.12:94458590 1 0 0 0 0 XM_005262695.1:c.96+3206A>G, NM_001011513.3:c.96+3206A>G, XM_006714069.2:c.96+3206A>G, NM_006457.4:c.96+3206A>G, NM_001256427.1:c.96+3206A>G, rs2433322, XM_011531543.1:c.96+3206A>G, 2433322, NM_001256428.1:c.-119+3206A>G, XM_005262695.3:c.96+3206A>G, XM_005262694.1:c.96+3206A>G, XM_005262698.1:c.96+3206A>G, NM_001256426.1:c.96+3206A>G, NC_000004.11:g.95379741=, NM_001011515.2:c.96+3206A>G, XM_005262698.3:c.96+3206A>G, XM_006714070.2:c.96+3206A>G, NC_000004.12:g.94458590=, XM_005262697.1:c.96+3206A>G, XM_006714067.2:c.96+3206A>G, NC_000004.12:g.94458590A>G, NM_001256425.1:c.-461+3206A>G, XM_005262693.3:c.96+3206A>G, XM_006714066.2:c.96+3206A>G, 60308923, XM_005262693.1:c.96+3206A>G, NM_001011516.2:c.96+3206A>G, XM_005262696.3:c.96+3206A>G, XM_005262696.1:c.96+3206A>G, XM_006714068.2:c.96+3206A>G, rs60308923, NC_000004.11:g.95379741A>G +PA166195107 rs2435207 PA238 MAPT NC_000017.11:45981562 1 0 0 0 0 NG_007398.2:g.92100G>A, NG_007398.1:g.92142G>A, 386567149, 58137108, NG_007398.2:g.92100=, 118034372, NC_000017.10:g.44058928G>A, 114607769, 2435207, rs2435207, NC_000017.11:g.45981562G>A, NC_000017.10:g.44058928=, NC_000017.11:g.45981562=, NG_007398.1:g.92142= +PA166154989 rs243865 PA30877 MMP2 NC_000016.10:55477894 2 0 0 0 0 rs2071338, 243865, NC_000016.9:g.55511806=, NM_001302508.1:c.-1147C>T, NG_008989.1:g.3726=, 17859818, 58165103, NC_000016.10:g.55477894C>T, NC_000016.9:g.55511806C>T, rs58165103, NC_000016.10:g.55477894=, NG_008989.1:g.3726C>T, NM_004530.5:c.-1586C>T, rs17859818, rs243865, 2071338 +PA166154369 rs2440390 PA27478 DRD2 NC_000011.10:113416156 1 1 0 0 0 NG_008841.1:g.64124=, NC_000011.9:g.113286878=, 2440390, NM_000795.3:c.533-545A>G, NC_000011.10:g.113416156=, rs2440390, NC_000011.9:g.113286878T>C, NC_000011.10:g.113416156T>C, XM_005271426.1:c.530-545A>G, 58573085, NM_016574.3:c.533-545A>G, XM_005271425.1:c.533-545A>G, NG_008841.1:g.64124A>G, rs58573085 +PA166155907 rs244076 PA24503 ADA NC_000020.11:44624274 1 0 0 0 0 3171232, rs3171232, NG_007385.1:g.32462=, XP_005260295.1:p.Val43=, XM_005260238.1:c.129A>G, XP_011526780.1:p.Val43=, XM_011528479.1:c.129A>G, XM_005260236.1:c.534A>G, NC_000020.10:g.43252915T>C, NP_000013.2:p.Val178=, XP_005260293.1:p.Val178=, XP_005260294.1:p.Val178=, 244076, NC_000020.11:g.44624274=, XM_011528478.1:c.129A>G, XP_011526781.1:p.Val43=, rs244076, XM_005260237.1:c.534A>G, NC_000020.10:g.43252915=, NG_007385.1:g.32462A>G, NC_000020.11:g.44624274T>C, rs117526070, NM_000022.2:c.534A>G, 117526070, XR_244129.1:n.588A>G, XM_005260236.2:c.534A>G +PA166157036 rs2444933 PA33537 POU2F2 NC_000006.12:98830552 1 0 0 0 0 NC_000006.11:g.99278428=, NC_000006.11:g.99278428T>A, NC_000006.12:g.98830552T>A, NC_000006.11:g.99278428T>C, NC_000006.12:g.98830552T>C, NC_000006.12:g.98830552=, rs2444933, 2444933 +PA166153705 rs2445142 PA29537 HSPG2 NC_000001.11:21899250 1 1 0 0 0 NC_000001.11:g.21899250=, XM_005245860.1:c.64-2940C>G, 17426667, XM_005245865.1:c.64-2940C>G, XM_011541321.1:c.64-2940C>G, NC_000001.11:g.21899250G>C, NC_000001.11:g.21899250G>A, XM_006710597.2:c.64-2940C>G, XM_011541319.1:c.64-2940C>G, rs56637658, XM_011541317.1:c.64-2940C>G, XM_006710594.2:c.64-2940C>G, XM_005245861.1:c.64-2940C>G, XM_011541322.1:c.64-2940C>G, 56637658, XM_011541318.1:c.64-2940C>G, rs2445142, XM_005245862.1:c.64-2940C>G, 2445142, 59538631, NC_000001.10:g.22225743=, XM_005245863.1:c.64-2940C>G, NG_016740.1:g.43008=, NC_000001.10:g.22225743G>A, NM_001291860.1:c.64-2940C>G, NC_000001.10:g.22225743G>C, XM_006710595.2:c.64-2940C>G, NG_016740.1:g.43008C>G, XM_005245859.1:c.64-2940C>G, rs59538631, NM_005529.6:c.64-2940C>G, XM_006710596.2:c.64-2940C>G, NG_016740.1:g.43008C>T, XM_011541320.1:c.64-2940C>G, rs17426667 +PA166170284 rs2445365 PA24791 ANGPT1 NC_000008.11:107371097 1 0 0 0 0 NG_029405.1:g.131930C>G, NC_000008.11:g.107371097G>C, 2445365, rs2445365, NC_000008.11:g.107371097G>A, NC_000008.11:g.107371097=, NC_000008.10:g.108383325G>C, NG_029405.1:g.131930C>T, NC_000008.10:g.108383325G>A, 386567353, 17297982, NC_000008.10:g.108383325=, NG_029405.1:g.131930= +PA166159488 rs244898 PA34231 RARS1 NC_000005.10:168491921 1 1 0 0 0 NC_000005.9:g.167918926T>C, 244898, NG_041809.1:g.10464=, 624289, NC_000005.9:g.167918926T>G, NC_000005.9:g.167918926=, 58061804, NG_041809.1:g.10464T>G, NG_041809.1:g.10464T>C, NG_041809.1:g.10464T>A, NC_000005.10:g.168491921T>G, NC_000005.10:g.168491921T>C, NC_000005.10:g.168491921T>A, 1314838, NC_000005.10:g.168491921=, rs244898, 17633583, NC_000005.9:g.167918926T>A +PA166233301 rs2449598 PA164741388 DLG2 NC_000011.10:83983729 1 1 0 0 0 NC_000011.9:g.83694772T>A, NG_021375.1:g.1648543A>T, NC_000011.10:g.83983729T>C, NG_021375.2:g.1649807A>G, 2449598, NC_000011.10:g.83983729T>A, rs2449598, NC_000011.10:g.83983729T>G, NG_021375.2:g.1649807=, NG_021375.2:g.1649807A>C, NC_000011.9:g.83694772=, NG_021375.1:g.1648543A>C, NG_021375.1:g.1648543A>G, NC_000011.10:g.83983729=, NG_021375.2:g.1649807A>T, NC_000011.9:g.83694772T>G, 60122564, NG_021375.1:g.1648543=, NC_000011.9:g.83694772T>C +PA166156560 rs2452600 PA134917248 PDLIM5 NC_000004.12:94575731 1 0 0 0 0 rs2452600, NP_006448.4:p.Ser136Phe, XM_006714069.2:c.407C>T, 2452600, NP_006448.5:p.Ser136=, NM_001011513.3:c.292-212C>T, XM_005262693.3:c.407C>T, NM_001256428.1:c.41C>T, XM_005262694.1:c.407C>T, XM_005262697.1:c.407C>T, NM_001011516.2:c.291+2338C>T, NP_001243357.1:p.Ser14Phe, XM_005262696.3:c.292-212C>T, NM_006457.4:c.407C>T, XM_005262696.1:c.292-212C>T, 3792659, NP_006448.5:p.Ser136Phe, rs3792659, XM_005262693.1:c.407C>T, NM_001256425.1:c.-266+2338C>T, 52807888, XM_006714068.2:c.292-212C>T, XP_006714130.1:p.Ser136Phe, NC_000004.12:g.94575731C>T, XP_005262750.1:p.Ser136Phe, XP_005262752.1:p.Ser136Phe, 56704997, XP_006714132.1:p.Ser136Phe, XP_005262754.1:p.Ser136Phe, XM_005262698.1:c.292-212C>T, rs52807888, XM_005262698.3:c.292-212C>T, rs56704997, NM_001256426.1:c.292-212C>T, NC_000004.11:g.95496882C>T, XM_006714067.2:c.407C>T, NC_000004.12:g.94575731=, XM_005262695.1:c.407C>T, NM_001011515.2:c.292-212C>T, XM_011531543.1:c.291+2338C>T, XP_006714129.1:p.Ser136Phe, NM_001256427.1:c.292-212C>T, XM_005262695.3:c.407C>T, XM_006714066.2:c.407C>T, XM_006714070.2:c.291+2338C>T, NC_000004.11:g.95496882=, XP_005262751.1:p.Ser136Phe +PA166154550 rs2453488 PA134972408 RND1 NC_000012.12:48861425 1 0 0 0 0 2453488, 60068073, rs2453488, NC_000012.11:g.49255208T>C, NC_000012.12:g.48861425=, NC_000012.11:g.49255208=, NC_000012.12:g.48861425T>C, NM_014470.3:c.319-294A>G, rs60068073 +PA166165281 rs2454727 PA165961843 HCAR2 NC_000012.12:122702333 2 0 0 0 0 17881787, NP_808219.1:p.Met317Ile, 12372280, rs2454727, 2454727, 28682471, NC_000012.12:g.122702333C>T, 3741537, NC_000012.11:g.123186880C>T, 17879282, NC_000012.11:g.123186880=, NC_000012.12:g.122702333=, NP_808219.1:p.Met317= +PA166154370 rs2456568 NC_000011.10:93958166 1 0 0 0 0 2456568, rs60120405, NC_000011.10:g.93958166T>A, NC_000011.9:g.93691332T>G, NC_000011.10:g.93958166=, NC_000011.9:g.93691332T>A, rs2456568, 60120405, NC_000011.10:g.93958166T>G, NC_000011.9:g.93691332= +PA166156356 rs2459693 PA33308 PIK3CA NC_000003.12:179215575 1 0 0 0 0 rs59252300, NC_000003.12:g.179215575=, NG_012113.2:g.72053=, XM_006713658.2:c.1540-2635C>T, NC_000003.12:g.179215575C>T, rs2459693, NM_006218.2:c.1540-2635C>T, NC_000003.11:g.178933363=, NG_012113.2:g.72053C>T, XM_011512894.1:c.1540-2635C>T, 2459693, NC_000003.11:g.178933363C>T, 59252300 +PA166156357 rs2461817 PA378 NR1I2 NC_000003.12:119805804 5 1 0 0 0 NM_033013.2:c.-22-1425A>C, 2461817, rs2461817, NC_000003.11:g.119524651=, NC_000003.12:g.119805804=, NC_000003.11:g.119524651A>C, NM_022002.2:c.96-1425A>C, NC_000003.12:g.119805804A>G, NC_000003.11:g.119524651A>G, NG_011856.1:g.30321=, NG_011856.1:g.30321A>G, NC_000003.12:g.119805804A>C, NG_011856.1:g.30321A>C, NM_003889.3:c.-22-1425A>C, XM_005247866.1:c.-187-1425A>C +PA166289641 rs2461823 PA378 NR1I2 NC_000003.12:119801278 1 0 0 0 0 57524252, NC_000003.12:g.119801278T>G, NC_000003.12:g.119801278T>C, NC_000003.12:g.119801278T>A, NC_000003.11:g.119520125T>G, NC_000003.12:g.119801278=, NC_000003.11:g.119520125T>C, NC_000003.11:g.119520125=, NG_011856.1:g.25795T>C, NC_000003.11:g.119520125T>A, NG_011856.1:g.25795T>G, 386567664, NG_011856.1:g.25795=, 52830380, NG_011856.1:g.25795T>A, rs2461823, 2461823 +PA166154990 rs246221 PA244 ABCC1 NC_000016.10:16044465 2 0 0 0 0 1173290, rs1173290, NG_028268.1:g.99889=, XM_011522498.1:c.879T=, NM_004996.3:c.825T>C, XP_005255384.1:p.Val233=, XM_005255327.1:c.699T>C, 3816960, NP_004987.2:p.Val275=, rs3816960, XM_005255328.1:c.687T>C, 17205745, XP_011520800.1:p.Val293=, XM_005255326.1:c.825T>C, XM_011522497.1:c.801T>C, XM_011522498.1:c.879T>C, NG_028268.1:g.99889T=, rs61565643, XM_011522497.1:c.801T=, rs2230670, NT_187607.1:g.1702362C>T, rs246221, XP_005255383.1:p.Val275=, 525646, NG_028268.2:g.99889T>C, XP_005255386.1:p.Val275=, NG_028268.2:g.99889T>G, NC_000016.9:g.16138322=, NG_028268.2:g.99889=, rs17205745, 248393, NC_000016.10:g.16044465=, XM_005255329.1:c.825T>C, rs248393, NT_187607.1:g.1702362C=, NM_004996.3:c.825T=, NC_000016.9:g.16138322T>G, NG_028268.1:g.99889T>G, NC_000016.10:g.16044465T>G, NC_000016.9:g.16138322T>C, NG_028268.1:g.99889T>C, 61565643, XP_005255385.1:p.Val229=, 246221, NC_000016.10:g.16044465T>C, NC_000016.10:g.16044465T=, XP_011520799.1:p.Val267=, rs525646, 2230670 +PA166154991 rs246240 PA244 ABCC1 NC_000016.10:16025167 4 2 0 0 0 rs246240, NG_028268.1:g.80591=, 59152122, 435989, 248402, NC_000016.10:g.16025167A>T, XM_005255329.1:c.616-7942A>G, rs601879, NC_000016.9:g.16119024=, NC_000016.10:g.16025167=, XM_005255327.1:c.490-7942A>G, rs1173277, 1173277, NC_000016.10:g.16025167A>G, XM_005255326.1:c.616-7942A>G, NM_004996.3:c.616-7942A>G, NG_028268.2:g.80591A>T, 601879, XM_005255328.1:c.478-7942A>G, NC_000016.9:g.16119024A>G, NG_028268.1:g.80591A>G, NT_187607.1:g.1683048A>G, NC_000016.9:g.16119024A>T, NG_028268.2:g.80591=, XM_011522497.1:c.592-7942A>G, 246240, rs435989, NG_028268.1:g.80591A>T, NG_028268.2:g.80591A>G, rs248402, rs59152122, XM_011522498.1:c.670-7942A>G +PA166171194 rs2464196 PA36380 HNF1A NC_000012.12:120997624 1 0 0 0 0 NC_000012.12:g.120997624G>A, 56962510, NC_000012.11:g.121435427=, 16950667, NP_000536.6:p.Ser487Thr, rs2464196, NG_011731.2:g.23879G>C, 2464196, NC_000012.12:g.120997624=, NG_011731.2:g.23879=, NC_000012.12:g.120997624G>C, NC_000012.11:g.121435427G>C, NC_000012.11:g.121435427G>A, NG_011731.2:g.23879G>A, 2708085, 17847503, NP_000536.6:p.Ser487=, NP_000536.6:p.Ser487Asn +PA166157577 rs2465403 PA26736 COLEC10 NC_000008.11:119078588 1 0 0 0 0 rs2465403, 2465403, NM_006438.3:c.149-11092G>A, NC_000008.10:g.120090827G>C, NC_000008.11:g.119078588G>C, XM_011516795.1:c.-59-11092G>A, NC_000008.11:g.119078588=, NC_000008.10:g.120090827=, XM_005250756.1:c.-59-11092G>A, NC_000008.10:g.120090827G>A, XM_005250756.2:c.-59-11092G>A, NC_000008.11:g.119078588G>A +PA166154893 rs2470890 PA27093 CYP1A2 NC_000015.10:74755085 11 2 0 0 0 rs386481450, NG_008431.1:g.37544C>T, NM_000761.3:c.1548C=, rs17861161, rs2470890, NM_000761.3:c.1548C>T, NM_000761.4:c.1548T=, 2470890, rs3211365, 3211365, NM_000761.4:c.1548T>C, 386481450, 17861161, 17334605, NG_008431.1:g.37544C=, NG_008431.2:g.37544=, NG_061543.1:g.11241T>C, NC_000015.10:g.74755085=, NP_000752.2:p.Asn516=, NG_061543.1:g.11241=, NC_000015.10:g.74755085T>C, NG_008431.2:g.37544T>C, NC_000015.9:g.75047426C>T, rs17334605 +PA166154894 rs2470893 PA27092 CYP1A1 NC_000015.10:74727108 1 0 0 0 0 NG_008431.2:g.9567=, 2470893, rs2470893, NM_000499.4:c.-1694G>A, rs60381661, XM_005254185.1:c.-1697G>A, XM_005254187.1:c.-1697G>A, NM_000499.3:c.-1694G>A, NG_055242.1:g.3414C>T, NG_008431.2:g.9567C>T, NC_000015.10:g.74727108=, NC_000015.9:g.75019449=, 60381661, NG_061374.1:g.3421=, NG_061374.1:g.3421G>A, 17861105, NC_000015.9:g.75019449C>T, NG_055242.1:g.3414=, rs17861105, XM_005254188.1:c.-1697G>A, NC_000015.10:g.74727108C>T, NM_001319216.1:c.-1697G>A, NM_001319217.1:c.-1697G>A, XM_005254189.1:c.-1888G>A, XM_005254186.1:c.-1973G>A, NG_008431.1:g.9567C>T +PA166154895 rs2472297 PA27092 CYP1A1 NC_000015.10:74735539 6 1 0 0 0 rs2472297, 2472297, NC_000015.10:g.74735539=, NG_008431.1:g.17998C>T, NC_000015.9:g.75027880C>T, 57326042, rs17334285, rs57326042, NG_008431.2:g.17998C>T, NC_000015.10:g.74735539C>T, NG_008431.2:g.17998=, 17334285, NC_000015.9:g.75027880= +PA166154896 rs2472299 PA27093 CYP1A2 NC_000015.10:74741059 1 0 0 0 0 rs17861131, 61188356, NC_000015.10:g.74741059A>T, rs2472299, 2472299, NG_008431.1:g.23518A>G, NC_000015.10:g.74741059=, 17861131, NC_000015.9:g.75033400=, NG_008431.2:g.23518=, NG_008431.2:g.23518A>T, rs61188356, NC_000015.10:g.74741059A>G, NC_000015.9:g.75033400A>T, NC_000015.9:g.75033400A>G, NG_008431.2:g.23518A>G +PA166154897 rs2472300 PA27093 CYP1A2 NC_000015.10:74741568 1 0 0 0 0 NG_008431.2:g.24027A>T, 2472300, NG_008431.1:g.24027A>G, NC_000015.9:g.75033909=, rs2472300, NC_000015.10:g.74741568A>T, 17861136, rs17861136, 59966254, NC_000015.10:g.74741568=, NC_000015.9:g.75033909A>G, NG_008431.2:g.24027A>G, rs59966254, NC_000015.9:g.75033909A>T, NC_000015.10:g.74741568A>G, NG_008431.2:g.24027= +PA166154898 rs2472304 PA27093 CYP1A2 NC_000015.10:74751897 4 2 0 0 0 3743483, NM_000761.3:c.1042+43G>A, rs3743483, NG_061543.1:g.8053G>A, 2472304, 17861158, 58648468, rs17861158, rs58648468, rs2472304, 17419193, NM_000761.4:c.1042+43G>A, NG_008431.1:g.34356G>A, NC_000015.10:g.74751897=, NC_000015.9:g.75044238=, NC_000015.10:g.74751897G>A, NG_008431.2:g.34356=, NG_061543.1:g.8053=, NC_000015.9:g.75044238G>A, rs17419193, NG_008431.2:g.34356G>A +PA166157753 rs2472507 PA24373 ABCA1 NC_000009.12:104924912 1 0 0 0 0 XM_005251778.1:c.-93+3023T>G, XM_011518343.1:c.-93+3023T>G, rs52795021, XM_011518339.1:c.-93+3023T>G, NG_007981.1:g.8244T>G, XM_005251780.1:c.-93+3023T>G, rs2472507, NC_000009.11:g.107687193A>G, NG_007981.1:g.8244T>C, XM_011518344.1:c.-93+3023T>G, 2472507, XM_011518341.1:c.-93+3023T>G, XM_011518342.1:c.-156+3023T>G, XM_005251777.1:c.-93+3023T>G, NC_000009.11:g.107687193A>C, XM_005251776.1:c.-115+3023T>G, NM_005502.3:c.-93+3023T>G, XM_005251773.1:c.-93+3023T>G, 52795021, NC_000009.12:g.104924912A>G, NC_000009.11:g.107687193=, NC_000009.12:g.104924912A>C, NC_000009.12:g.104924912=, NG_007981.1:g.8244= +PA166185385 rs2472553 PA26489 CHRNA2 NC_000008.11:27470994 2 0 0 0 0 2472553, NC_000008.11:g.27470994G>T, 57302661, NC_000008.10:g.27328511G>T, rs2472553, NG_015827.1:g.13303C>T, NP_000733.2:p.Thr22=, 386567856, NP_000733.2:p.Thr22Asn, NC_000008.11:g.27470994G>A, NP_000733.2:p.Thr22Ser, NC_000008.11:g.27470994G>C, NC_000008.10:g.27328511G>A, NC_000008.10:g.27328511G>C, NG_015827.1:g.13303=, NP_000733.2:p.Thr22Ile, NC_000008.10:g.27328511=, NG_015827.1:g.13303C>G, NC_000008.11:g.27470994=, NG_015827.1:g.13303C>A +PA166156358 rs2472677 PA378 NR1I2 NC_000003.12:119799570 22 3 0 0 0 rs57813967, NC_000003.12:g.119799570=, NM_022002.2:c.96-7659C>T, NC_000003.11:g.119518417C>G, NG_011856.1:g.24087=, NM_003889.3:c.-22-7659C>T, NC_000003.11:g.119518417=, NC_000003.12:g.119799570C>T, NM_033013.2:c.-22-7659C>T, rs2472677, 2472677, NG_011856.1:g.24087C>G, 57813967, NC_000003.11:g.119518417C>T, XM_005247866.1:c.-187-7659C>T, NC_000003.12:g.119799570C>G, NG_011856.1:g.24087C>T +PA166176711 rs2472682 PA378 NR1I2 NC_000003.12:119813805 1 0 0 0 0 rs2472682, NC_000003.11:g.119532652=, 2472682, NG_011856.1:g.38322A>C, NC_000003.11:g.119532652A>T, NC_000003.11:g.119532652A>C, 58876564, NG_011856.1:g.38322=, NC_000003.12:g.119813805=, NC_000003.12:g.119813805A>C, NG_011856.1:g.38322A>T, NC_000003.12:g.119813805A>T +PA166157037 rs2473967 NC_000006.12:113158133 1 0 0 0 0 74295796, rs74295796, NC_000006.12:g.113158133=, NC_000006.11:g.113479335=, rs2473967, NC_000006.11:g.113479335G>T, NC_000006.12:g.113158133G>T, NC_000006.12:g.113158133G>A, NC_000006.11:g.113479335G>A, 2473967 +PA166154992 rs247616 NC_000016.10:56955678 2 1 0 0 0 NC_000016.10:g.56955678=, NC_000016.10:g.56955678C>T, NC_000016.9:g.56989590C>T, NC_000016.9:g.56989590=, rs247616, 247616 +PA166153706 rs2476601 PA33995 PTPN22 NC_000001.11:113834946 9 0 0 0 0 XP_011539526.1:p.Trp472Arg, 117063937, NM_015967.6:c.1858C>T, XM_011541224.1:c.1414T>C, NG_011432.1:g.41808C>A, XP_011539525.1:p.Trp620Arg, XM_005270738.1:c.1786T=, XM_011541222.1:c.1858T=, XP_011539526.1:p.Trp472=, NM_001308297.1:c.1786C=, XP_005270795.1:p.Trp596=, XM_011541221.1:c.1780T=, NC_000001.11:g.113834946=, XM_005270738.1:c.1786T>C, 60104027, XM_011541225.1:c.1786T>C, NM_001308297.1:c.1786C>T, XP_005270795.1:p.Trp596Arg, XM_005270738.2:c.1786T>C, 2476601, rs60104027, NC_000001.11:g.113834946A>T, XP_011539523.1:p.Trp594Arg, NM_015967.5:c.1858C>T, NC_000001.10:g.114377568A>T, XP_011539524.1:p.Trp620Arg, NP_036543.4:p.Arg565=, XM_011541222.1:c.1858T>C, XM_011541224.1:c.1414T=, NR_125965.1:n.414+19474A>G, NR_125965.1:n.414+19474G>A, XP_011539527.1:p.Trp596=, XM_011541223.1:c.1858T>C, XM_005270738.2:c.1786T=, NG_011432.1:g.41808C>T, NC_000001.10:g.114377568A>G, NC_000001.11:g.113834946A=, NP_001295226.1:p.Arg596=, XP_011539524.1:p.Trp620=, XP_011539525.1:p.Trp620=, NC_000001.10:g.114377568A=, NP_057051.3:p.Arg620=, XP_011539523.1:p.Trp594=, 52834763, XM_011541225.1:c.1786T=, NP_001180360.1:p.Arg620=, NP_057051.3:p.Arg620Trp, XP_011539527.1:p.Trp596Arg, NC_000001.10:g.114377568=, NC_000001.11:g.113834946A>G, NM_012411.5:c.1693C>T, NP_001180360.1:p.Arg620Trp, rs2476601, XM_011541223.1:c.1858T=, rs52834763, XM_011541221.1:c.1780T>C, NM_012411.5:c.1693C=, NG_011432.1:g.41808C=, NM_015967.6:c.1858C=, NM_001193431.2:c.1858C=, NP_001295226.1:p.Arg596Trp, NM_001193431.2:c.1858C>T, NP_036543.4:p.Arg565Trp, rs117063937 +PA166178385 rs2477134 PA32903 PADI4 NC_000001.11:17307077 1 0 0 0 0 NC_000001.11:g.17307077G>A, NG_023261.2:g.3889T>G, NC_000001.10:g.17633572=, NC_000001.11:g.17307077G>T, 2477134, NC_000001.11:g.17307077=, NC_000001.10:g.17633572G>A, NG_023261.2:g.3889T>A, rs2477134, NC_000001.10:g.17633572G>T, NC_000001.10:g.17633572G>C +PA166154016 rs2484516 PA35 ADRA2A NC_000010.11:111077315 3 0 0 0 0 NG_012020.1:g.5284G>A, NG_012020.1:g.5284=, 56852734, NC_000010.11:g.111077315=, NC_000010.11:g.111077315G>C, NC_000010.10:g.112837073G>A, NC_000010.10:g.112837073G>C, NG_012020.1:g.5284G>C, NM_000681.3:c.-682G>C, NC_000010.10:g.112837073G>T, NC_000010.10:g.112837073=, NC_000010.11:g.111077315G>A, rs56852734, rs2484516, 2484516, NC_000010.11:g.111077315G>T, NG_012020.1:g.5284G>T +PA166402621 rs2485889420 PA130 CYP3A4 NC_000007.14:99770196 1 0 0 0 0 2485889420, NC_000007.13:g.99367819=, NC_000007.14:g.99770196=, NG_008421.1:g.18990=, NP_059488.2:p.Ile120Val, rs2485889420, NG_008421.1:g.18990A>G, NP_059488.2:p.Ile120=, NC_000007.13:g.99367819T>C, NC_000007.14:g.99770196T>C +PA166402622 rs2485908963 PA130 CYP3A4 NC_000007.14:99780036 1 0 0 0 0 rs2485908963, NP_059488.2:p.Pro41=, NC_000007.14:g.99780036=, NC_000007.13:g.99377659=, NC_000007.13:g.99377659G>A, NG_008421.1:g.9150=, NG_008421.1:g.9150C>T, NP_059488.2:p.Pro41Ser, 2485908963, NC_000007.14:g.99780036G>A +PA166153707 rs2485914 PA37972 SMYD3 NC_000001.11:246057444 1 0 0 0 0 56445665, XM_011544255.1:c.60+126972A>G, NC_000001.10:g.246220746T>C, XM_011544253.1:c.532-127507A>G, 57061101, NM_022743.2:c.355-127507A>G, XM_005273230.1:c.-36-127507A>G, rs56445665, NC_000001.11:g.246057444T>C, XM_005273228.1:c.532-127507A>G, NC_000001.11:g.246057444=, XM_011544261.1:c.-37+119021A>G, rs57061101, XM_011544258.1:c.-36-127507A>G, XM_005273227.1:c.532-127507A>G, XR_949153.1:n.633-127507A>G, NM_001167740.1:c.532-127507A>G, XM_011544256.1:c.25-127507A>G, 2485914, NC_000001.10:g.246220746=, rs2485914, XM_011544254.1:c.105+50636A>G +PA166153708 rs2486001 PA35916 SLC6A9 NC_000001.11:44010315 1 0 0 0 0 NC_000001.11:g.44010315T>C, NC_000001.10:g.44475987T>C, NC_000001.10:g.44475987=, NM_001261380.1:c.200-219A>G, XR_246291.1:n.310-219A>G, XM_005271145.1:c.365-219A>G, rs3791126, 3791126, NR_048549.1:n.303-1692A>G, NM_201649.3:c.407-219A>G, NR_048548.1:n.452-219A>G, 2486001, NG_050929.1:g.26178A>G, rs2486001, NC_000001.11:g.44010315=, XM_011542017.1:c.407-219A>G, XM_005271146.1:c.-14-1692A>G, NM_006934.3:c.245-219A>G, NM_001024845.2:c.188-219A>G, NG_050929.1:g.26178= +PA166263962 rs2486758 PA27090 CYP17A1 NC_000010.11:102837723 1 0 0 0 0 NG_007955.1:g.4811=, NC_000010.11:g.102837723T>C, NG_055002.1:g.451T>G, NG_007955.1:g.4811A>G, NC_000010.11:g.102837723T>G, NC_000010.11:g.102837723=, 17786415, 58578453, NG_007955.1:g.4811A>C, 2486758, NC_000010.10:g.104597480T>C, NG_055002.1:g.451=, rs2486758, NG_055002.1:g.451T>C, NC_000010.10:g.104597480T>G, NC_000010.10:g.104597480= +PA166157754 rs2487030 NC_000009.12:104943907 1 0 0 0 0 NC_000009.12:g.104943907C>A, NC_000009.11:g.107706188C>T, NC_000009.12:g.104943907=, NC_000009.11:g.107706188C>A, rs2487030, NC_000009.11:g.107706188=, NC_000009.12:g.104943907C>T, 2487030 +PA166164935 rs2487032 NC_000009.12:104941653 2 0 0 0 0 NC_000009.12:g.104941653G>C, NC_000009.11:g.107703934G>C, NC_000009.12:g.104941653G>A, NC_000009.11:g.107703934G>A, 2487032, NC_000009.12:g.104941653=, NC_000009.11:g.107703934=, rs2487032, 59638215 +PA166157038 rs2487663 PA24392 ABCC10 NC_000006.12:43441680 1 0 0 0 0 NC_000006.11:g.43409418A>C, NM_001198934.1:c.2128-182A>G, XR_926335.1:n.2280-182A>G, NC_000006.11:g.43409418=, NC_000006.11:g.43409418A>G, XM_005249470.1:c.2128-182A>G, XM_011514980.1:c.2128-182A>G, XM_011514986.1:c.175-182A>G, rs59866079, XM_011514974.1:c.2128-182A>G, XM_005249467.1:c.2128-182A>G, 56802570, XM_011514982.1:c.796-182A>G, NC_000006.11:g.43409418A>T, XM_005249466.1:c.2128-182A>G, XM_005249469.1:c.175-182A>G, rs56802570, XM_011514979.1:c.2128-182A>G, NC_000006.12:g.43441680=, XM_011514976.1:c.2128-182A>G, NC_000006.12:g.43441680A>T, XM_005249465.1:c.2128-182A>G, XM_011514975.1:c.2128-182A>G, NM_033450.2:c.2044-182A>G, XM_005249468.1:c.2128-182A>G, XR_926334.1:n.2273-182A>G, XM_011514978.1:c.2011-182A>G, XM_011514983.1:c.796-182A>G, 2487663, NC_000006.12:g.43441680A>C, rs2487663, XM_011514977.1:c.2128-182A>G, XM_011514981.1:c.2128-182A>G, NC_000006.12:g.43441680A>G, XM_011514984.1:c.2128-182A>G, XM_011514985.1:c.175-182A>G, 59866079 +PA166402643 rs2492591692 PA126 CYP2C9 NC_000010.11:94949144 2 2 2 0 0 NC_000010.11:g.94949144=, NG_008385.2:g.15987C>T, rs2492591692, NC_000010.10:g.96708901C>T, NP_000762.2:p.Pro227=, 2492591692, NC_000010.11:g.94949144C>T, NG_008385.2:g.15987=, NP_000762.2:p.Pro227Ser, NC_000010.10:g.96708901= +PA166402644 rs2492634549 PA126 CYP2C9 NC_000010.11:94972134 1 1 1 0 0 rs2492634549, NC_000010.11:g.94972134A>G, NC_000010.11:g.94972134=, NP_000762.2:p.Ile284Val, 2492634549, NG_008385.2:g.38977A>G, NC_000010.10:g.96731891=, NC_000010.10:g.96731891A>G, NG_008385.2:g.38977=, NP_000762.2:p.Ile284= +PA166402646 rs2492662738 PA126 CYP2C9 NC_000010.11:94988855 2 3 3 0 0 rs2492662738, NP_000762.2:p.Ile434=, NC_000010.11:g.94988855A>T, NG_008385.2:g.55698=, 2492662738, NG_008385.2:g.55698A>T, NC_000010.11:g.94988855=, NP_000762.2:p.Ile434Phe, NC_000010.10:g.96748612A>T, NC_000010.10:g.96748612= +PA166153709 rs2494262 PA28056 FCER1A NC_000001.11:159283882 1 0 0 0 0 NC_000001.11:g.159283882C>T, NC_000001.10:g.159253672C>G, NC_000001.11:g.159283882=, 59461022, rs17673238, NC_000001.10:g.159253672=, NM_002001.3:c.-112C>A, NC_000001.11:g.159283882C>G, NC_000001.10:g.159253672C>T, NC_000001.11:g.159283882C>A, rs59461022, NC_000001.10:g.159253672C>A, 2494262, 17673238, rs2494262 +PA166156720 rs249429 PA33744 PRKAA1 NC_000005.10:40782137 1 0 0 0 0 rs60878094, NC_000005.9:g.40782239C>T, rs1645487, 1645487, NC_000005.10:g.40782137=, rs17835690, NC_000005.10:g.40782137C>A, XM_006714482.1:c.-559-4551G>A, NM_006251.5:c.128-4551G>A, NC_000005.10:g.40782137C>G, NM_206907.3:c.128-4551G>A, NC_000005.9:g.40782239C>G, 249429, NC_000005.9:g.40782239=, NC_000005.9:g.40782239C>A, XM_005248320.1:c.128-4551G>A, NC_000005.10:g.40782137C>T, 60878094, rs249429, 17835690 +PA166154793 rs2494732 PA24684 AKT1 NC_000014.9:104772855 3 1 0 0 0 NM_001014431.1:c.1172+23A>G, XM_011536543.1:c.1172+23A>G, NC_000014.9:g.104772855=, NC_000014.8:g.105239192=, XM_005267401.1:c.1172+23A>G, rs3803303, 3803303, 56817806, NC_000014.8:g.105239192T>C, XM_005267402.1:c.1169+23A>G, NM_005163.2:c.1172+23A>G, NC_000014.8:g.105239192T>G, NG_012188.1:g.27890=, XM_011536544.1:c.1172+23A>G, NC_000014.9:g.104772855T>G, NM_001014432.1:c.1172+23A>G, 2494732, rs2494732, NG_012188.1:g.27890A>C, NC_000014.9:g.104772855T>C, NG_012188.1:g.27890A>G, rs56817806 +PA166203321 rs2494743 PA24684 AKT1 NC_000014.9:104785383 1 0 0 0 0 NC_000014.9:g.104785383T>C, NG_012188.1:g.15362A>T, NC_000014.9:g.104785383=, NC_000014.8:g.105251720T>A, NC_000014.9:g.104785383T>A, NC_000014.8:g.105251720T>C, NG_012188.1:g.15362A>G, 2494743, NG_012188.1:g.15362=, rs2494743, 57261545, NC_000014.8:g.105251720= +PA166154794 rs2494750 PA24684 AKT1 NC_000014.9:104796575 1 0 0 0 0 NM_001014432.1:c.-1256C>G, NG_012188.1:g.4169=, NC_000014.8:g.105262912G>C, 57563070, rs57563070, NC_000014.9:g.104796575G>C, NG_042073.1:g.395=, NM_001014431.1:c.-1172C>G, 2494750, rs2494750, NG_042073.1:g.395G>C, NC_000014.9:g.104796575=, NC_000014.8:g.105262912=, NG_012188.1:g.4169C>G +PA166154795 rs2494752 PA24684 AKT1 NC_000014.9:104797271 1 1 0 0 0 NM_001014431.1:c.-1868T>C, NG_042073.1:g.1091A>G, NG_042073.1:g.1091=, NC_000014.8:g.105263608=, NG_012188.1:g.3473T>C, NC_000014.9:g.104797271A>T, NC_000014.8:g.105263608A>T, NG_012188.1:g.3473=, NC_000014.9:g.104797271=, NM_001014432.1:c.-1952T>C, NG_012188.1:g.3473T>A, 2494752, rs2494752, NC_000014.8:g.105263608A>G, NC_000014.9:g.104797271A>G, NG_042073.1:g.1091A>T +PA166157870 rs2497538 PA194 HTR2C NC_000023.11:114733932 1 1 0 0 0 NG_012082.2:g.154848A=, NC_000023.10:g.113968341C=, NW_004070891.1:g.402734A=, rs2497538, NC_000023.10:g.113968341C>A, 2497538, XR_944301.1:n.209-3156T>G, NM_000868.3:c.349+2325A>C, NM_000868.3:c.349+2325C>A, rs59596828, NG_012082.2:g.154848A>C, NM_001256761.2:c.349+2325A>C, NM_001256761.2:c.349+2325C>A, NG_012082.2:g.154848=, NW_004070891.1:g.402734A>C, NC_000023.11:g.114733932=, XR_944300.1:n.209-3156T>G, NC_000023.11:g.114733932A>C, NM_001256760.2:c.349+2325A>C, NM_001256760.2:c.349+2325C>A, 59596828 +PA166154796 rs2498786 PA24684 AKT1 NC_000014.9:104796031 1 0 0 0 0 rs2498786, XM_011536543.1:c.-2170G>C, XM_011536544.1:c.-2984G>C, 2498786, XM_005267401.1:c.-1992G>C, NM_001014432.1:c.-712G>C, NC_000014.9:g.104796031=, NG_012188.1:g.4713=, NC_000014.9:g.104796031C>G, NG_012188.1:g.4713G>C, NC_000014.8:g.105262368C>G, NM_001014431.1:c.-628G>C, NC_000014.8:g.105262368= +PA166203322 rs2498794 PA24684 AKT1 NC_000014.9:104778914 1 0 0 0 0 2498794, NC_000014.8:g.105245251=, rs2498794, NC_000014.9:g.104778914A>G, NC_000014.9:g.104778914A>C, NC_000014.8:g.105245251A>G, NC_000014.8:g.105245251A>C, NG_012188.1:g.21831T>C, NG_012188.1:g.21831T>A, NC_000014.9:g.104778914=, NG_012188.1:g.21831T>G, NG_012188.1:g.21831=, NC_000014.9:g.104778914A>T, NC_000014.8:g.105245251A>T +PA166154797 rs2498804 NC_000014.9:104766758 1 1 0 0 0 rs56890536, NC_000014.8:g.105233095C>T, NC_000014.9:g.104766758=, NC_000014.9:g.104766758C>T, 2498804, rs2498804, XR_429419.2:n.-1209C>A, rs386568280, NC_000014.8:g.105233095C>A, 56890536, NC_000014.8:g.105233095=, NC_000014.8:g.105233095C>G, NC_000014.9:g.104766758C>A, 386568280, NC_000014.9:g.104766758C>G +PA166154371 rs2499984 PA32415,PA32416 OR52J2P,OR52J3 NC_000011.10:5040311 1 1 0 0 0 rs2499984, 57039208, 2499984, NC_000011.9:g.5061541A>C, rs17350219, NC_000011.10:g.5040311A>C, NC_000011.9:g.5061541=, 17350219, NC_000011.10:g.5040311A>G, rs57039208, NC_000011.10:g.5040311=, NC_000011.9:g.5061541A>G +PA166157039 rs2500535 PA38213 UST NC_000006.12:149008131 1 1 0 0 0 XR_942249.1:n.1289-11008A>G, 60401837, NC_000006.11:g.149329267A>C, NM_005715.2:c.682-11008A>G, NC_000006.11:g.149329267A>G, NC_000006.12:g.149008131A>C, NC_000006.12:g.149008131A>G, XM_011535376.1:c.*5-11008A>G, NC_000006.12:g.149008131=, XM_011535377.1:c.*5-3826A>G, NC_000006.11:g.149329267A>T, rs60401837, rs2500535, 2500535, NC_000006.11:g.149329267=, NC_000006.12:g.149008131A>T +PA166153710 rs2501870 NC_000001.11:161242779 1 0 0 0 0 rs56838883, rs386568341, NC_000001.10:g.161212569G>C, NC_000001.11:g.161242779=, NC_000001.10:g.161212569G>A, NG_029113.1:g.432C>G, rs2501870, NC_000001.10:g.161212569=, NG_029113.1:g.432=, 2501870, rs7542374, 7542374, NG_029113.1:g.432C>T, 56838883, 386568341, rs56625284, NC_000001.11:g.161242779G>C, 56625284, NC_000001.11:g.161242779G>A +PA166153711 rs2501873 PA391 NR1I3 NC_000001.11:161234748 3 2 0 0 0 NM_001077481.2:c.238+1099G>A, 74230383, XM_005245693.1:c.454+1099G>A, XM_005245696.1:c.454+1099G>A, rs57345476, NC_000001.10:g.161204538=, NM_001077474.2:c.238+1099G>A, NM_001077473.2:c.151+1099G>A, XM_005245693.3:c.454+1099G>A, XM_005245699.1:c.454+1099G>A, XM_005245697.3:c.238+1099G>A, NM_001077470.2:c.151+1099G>A, NC_000001.11:g.161234748C>T, NC_000001.11:g.161234748=, 57345476, rs74230383, NM_001077471.2:c.238+1099G>A, NM_001077480.2:c.238+1099G>A, XM_005245697.1:c.238+1099G>A, NM_005122.4:c.238+1099G>A, NM_001077477.2:c.151+1099G>A, XM_005245694.1:c.454+1099G>A, XM_005245694.3:c.454+1099G>A, NM_001077469.2:c.238+1099G>A, NC_000001.10:g.161204538C>T, NG_029113.1:g.8463=, rs2501873, NM_001077482.2:c.238+1099G>A, NG_029113.1:g.8463G>A, NM_001077476.2:c.151+1099G>A, XM_005245698.1:c.454+1099G>A, NM_001077479.2:c.151+1099G>A, 2501873, XM_005245695.1:c.454+1099G>A, NM_001077475.2:c.151+1099G>A, NM_001077472.2:c.151+1099G>A, NM_001077478.2:c.238+1099G>A, XM_011510237.1:c.454+1099G>A +PA166153712 rs2502815 PA391 NR1I3 NC_000001.11:161233437 2 1 0 0 0 NM_001077476.2:c.152-99C>T, NM_001077471.2:c.239-99C>T, XM_005245694.1:c.455-99C>T, NC_000001.11:g.161233437G>A, XM_005245699.1:c.455-1963C>T, NM_001077478.2:c.239-99C>T, XM_005245696.1:c.455-99C>T, rs58399464, rs2502815, 2502815, NM_001077481.2:c.239-99C>T, NG_029113.1:g.9774C>T, XM_011510237.1:c.455-99C>T, XM_005245694.3:c.455-99C>T, XM_005245697.1:c.239-99C>T, XM_005245695.1:c.455-99C>T, 58399464, XM_005245698.1:c.455-1963C>T, NM_001077469.2:c.239-99C>T, NM_001077477.2:c.152-99C>T, XM_005245697.3:c.239-99C>T, NM_001077472.2:c.152-99C>T, NM_001077470.2:c.152-99C>T, NC_000001.11:g.161233437=, NM_001077479.2:c.152-99C>T, XM_005245693.3:c.455-99C>T, NM_001077474.2:c.239-99C>T, NM_001077482.2:c.239-99C>T, NM_005122.4:c.239-99C>T, XM_005245693.1:c.455-99C>T, NC_000001.10:g.161203227=, NC_000001.10:g.161203227G>A, NM_001077473.2:c.152-99C>T, NG_029113.1:g.9774=, NM_001077475.2:c.152-99C>T, NM_001077480.2:c.239-99C>T +PA166182542 rs2504938 PA330 SLC22A3 NC_000006.12:160403722 1 0 0 0 0 9457917, NC_000006.12:g.160403722=, NC_000006.11:g.160824754=, 2504938, rs2504938, NC_000006.12:g.160403722C>A, NC_000006.11:g.160824754C>T, NC_000006.12:g.160403722C>T, 4307192, 61054546, 7450355, NC_000006.11:g.160824754C>A +PA166154372 rs2511398 NC_000011.10:93951643 1 0 0 0 0 386568509, NC_000011.9:g.93684809A>G, NC_000011.10:g.93951643=, rs117421542, NC_000011.10:g.93951643A>G, rs386568509, 117421542, rs2511398, NC_000011.9:g.93684809=, 2511398 +PA166154373 rs2511989 PA35029 SERPING1 NC_000011.10:57610852 1 0 0 0 0 rs56451052, rs57180821, rs2511989, NC_000011.10:g.57610852C>T, 2511989, NC_000011.10:g.57610852=, XM_005274204.1:c.1045-865C>T, 57180821, NM_001032295.1:c.1030-865C>T, 56451052, NM_000062.2:c.1030-865C>T, XM_005274205.1:c.1030-865C>T, NG_009625.1:g.18299C>T, NG_009625.1:g.18299=, NC_000011.9:g.57378325=, NC_000011.9:g.57378325C>T +PA166154374 rs2513265 NC_000011.10:105553068 1 1 0 0 0 17469263, NC_000011.9:g.105423795=, NC_000011.9:g.105423795T>A, NC_000011.10:g.105553068=, rs2513265, NC_000011.10:g.105553068T>A, 59115101, rs17469263, rs60930732, rs59115101, 2513265, 60930732 +PA166159082 rs2514036 PA134936640 ACY3 NC_000011.10:67647583 2 1 0 0 0 NC_000011.9:g.67415054=, NC_000011.9:g.67415054C>T, NC_000011.9:g.67415054C>G, NC_000011.10:g.67647583C>G, NC_000011.10:g.67647583=, 2514036, NC_000011.10:g.67647583C>T, rs2514036 +PA166154375 rs2514218 PA27478 DRD2 NC_000011.10:113522272 5 2 0 0 0 2514218, rs2514218, rs17530767, NC_000011.9:g.113392994=, NC_000011.10:g.113522272=, 17530767, 386568569, NC_000011.10:g.113522272C>T, NC_000011.9:g.113392994C>T, 57701787, rs386568569, rs57701787 +PA166170285 rs2515409 PA24792,PA30701 ANGPT2,MCPH1 NC_000008.11:6507401 1 0 0 0 0 rs2515409, NG_029483.1:g.60863=, NC_000008.10:g.6364922=, NG_016619.2:g.105810T>C, NC_000008.11:g.6507401=, NC_000008.10:g.6364922T>C, NG_016619.2:g.105810=, NG_029483.1:g.60863A>G, 2515409, 59376027, NC_000008.11:g.6507401T>C +PA166170287 rs2515462 PA24792,PA30701 ANGPT2,MCPH1 NC_000008.11:6526078 1 0 0 0 0 NC_000008.11:g.6526078A>C, NC_000008.10:g.6383599A>G, NG_029483.1:g.42186T>A, 57349892, NG_029483.1:g.42186T>C, NG_016619.2:g.124487A>G, NG_029483.1:g.42186T>G, NC_000008.11:g.6526078=, NG_016619.2:g.124487A>C, NC_000008.11:g.6526078A>T, NC_000008.10:g.6383599A>T, 56519505, NC_000008.10:g.6383599=, 2515462, NG_016619.2:g.124487=, rs2515462, NG_029483.1:g.42186=, NC_000008.11:g.6526078A>G, NC_000008.10:g.6383599A>C, NG_016619.2:g.124487A>T +PA166157755 rs2515629 PA24373 ABCA1 NC_000009.12:104832083 1 0 0 0 0 NG_007981.1:g.101073T>C, XM_005251774.1:c.1510-256T>C, rs2515629, NC_000009.12:g.104832083A>G, 2515629, XM_005251779.1:c.688-256T>C, XM_011518339.1:c.1585-256T>C, NG_007981.1:g.101073=, 3739744, XM_005251776.1:c.1330-256T>C, rs3739744, NM_005502.3:c.1510-256T>C, rs59453645, NC_000009.12:g.104832083=, XM_011518340.1:c.1585-256T>C, XM_011518343.1:c.1585-256T>C, rs386568589, XM_005251778.1:c.1510-256T>C, XM_005251775.1:c.1447-256T>C, 386568589, 59453645, XM_005251773.1:c.1510-256T>C, NC_000009.11:g.107594364A>G, XM_005251780.1:c.1510-256T>C, XM_011518341.1:c.1585-256T>C, XM_011518344.1:c.1585-256T>C, XM_011518342.1:c.1147-256T>C, NC_000009.11:g.107594364=, XM_005251777.1:c.1510-256T>C +PA166154017 rs2515641 PA129 CYP2E1 NC_000010.11:133537858 4 2 0 0 0 NC_000010.11:g.133537858C>A, NC_000010.10:g.135351362T>G, NC_000010.11:g.133537858=, rs60244712, NC_000010.10:g.135351362T>A, NG_008383.1:g.15496C>A, NC_000010.10:g.135351362T>C, NP_000764.1:p.Phe421=, XM_005252665.1:c.1323T>C, NM_000773.3:c.1263C=, NM_000773.3:c.1263C>T, XP_005252722.1:p.Phe441=, NC_000010.11:g.133537858C>T, 17012766, NG_008383.1:g.15496=, 60244712, NG_008383.1:g.15496C=, NG_008383.1:g.15496C>T, rs17012766, NC_000010.11:g.133537858C>G, NP_000764.1:p.Phe421Leu, NG_008383.1:g.15496C>G, rs2515641, 2515641 +PA166157040 rs2518224 PA164741600 GRIK2 NC_000006.12:101458776 1 0 0 0 0 XR_942819.1:n.249+917A>C, NM_175768.3:c.115+59384A>C, XM_005266947.1:c.115+59384A>C, XM_011535779.1:c.115+59384A>C, NM_021956.4:c.115+59384A>C, XM_005266945.1:c.115+59384A>C, XM_011535778.1:c.115+59384A>C, XM_005266948.1:c.115+59384A>C, rs17814833, rs61400814, NC_000006.11:g.101906652=, NC_000006.11:g.101906652A>C, XM_005266949.1:c.115+59384A>C, XM_011535780.1:c.115+59384A>C, NC_000006.11:g.101906652A>G, XM_011535777.1:c.115+59384A>C, 61400814, NC_000006.12:g.101458776=, 17814833, NM_001166247.1:c.115+59384A>C, NG_009224.2:g.64748A>G, NC_000006.12:g.101458776A>C, NG_009224.2:g.64748=, XM_005266945.2:c.115+59384A>C, rs2518224, NG_009224.2:g.64748A>C, XM_011535781.1:c.115+59384A>C, 2518224, NC_000006.12:g.101458776A>G +PA166157041 rs2518463 PA356 TPMT NC_000006.12:18143538 1 0 0 0 0 XM_011514840.1:c.297+58T>C, NC_000006.11:g.18143769=, NC_000006.12:g.18143538=, NC_000006.11:g.18143769A>G, 386568705, NM_000367.3:c.366+58T>C, 56804132, XM_011514839.1:c.366+58T>C, 2518463, rs2518463, NG_012137.2:g.16606T>C, NC_000006.12:g.18143538A>G, rs386568705, rs56804132, NG_012137.2:g.16606= +PA166183843 rs2520464 PA267 ABCB1 NC_000007.14:87571770 1 0 0 0 0 NC_000007.14:g.87571770C>G, NG_011513.1:g.146479G>T, NC_000007.13:g.87201086C>G, NG_011513.1:g.146479=, NC_000007.14:g.87571770=, NC_000007.13:g.87201086=, NC_000007.13:g.87201086C>T, NC_000007.14:g.87571770C>A, 2520464, 386568738, rs2520464, NC_000007.14:g.87571770C>T, NG_011513.1:g.146479G>C, NG_011513.1:g.146479G>A, 17248610, NC_000007.13:g.87201086C>A +PA166159310 rs2523864 PA134876212 HCG22 NC_000006.12:31050769 1 1 0 0 0 117899613, NC_000006.12:g.31050769=, 57687773, NC_000006.11:g.31018546C>T, 56619070, NC_000006.12:g.31050769C>T, rs2523864, 116323595, 2523864, 7763741, 16898606, 9262593, NC_000006.11:g.31018546= +PA166157360 rs2525557 PA25204 AZGP1P1 NC_000007.14:99980576 1 0 0 0 0 NC_000007.14:g.99980576A>G, 41503246, NC_000007.14:g.99980576=, NR_036679.1:n.-186A>G, 11496118, 58424061, rs59194580, NC_000007.13:g.99578199A>T, 2525557, rs2525557, NC_000007.14:g.99980576A>T, rs41503246, NC_000007.13:g.99578199A>G, NC_000007.13:g.99578199=, rs58424061, rs11496118, 59194580 +PA166157361 rs2527887 NC_000007.14:99953331 1 0 0 0 0 NC_000007.13:g.99550954T>A, NC_000007.13:g.99550954=, NC_000007.14:g.99953331=, rs56661816, 56661816, rs2527887, NC_000007.14:g.99953331T>A, 2527887 +PA166157362 rs2527894 NC_000007.14:99941218 1 0 0 0 0 59498304, NC_000007.14:g.99941218A>G, rs59498304, rs2527894, 2527894, NC_000007.13:g.99538841=, NC_000007.13:g.99538841A>G, 58847795, NC_000007.14:g.99941218=, rs58847795 +PA166157363 rs2527927 NC_000007.14:99879803 1 0 0 0 0 NC_000007.13:g.99477426G>A, 57487098, NC_000007.13:g.99477426=, 2527927, rs2527927, NC_000007.14:g.99879803G>A, NC_000007.14:g.99879803=, 17211590, rs57487098, rs17211590 +PA166160230 rs2532292 PA142671604 KANSL1 NC_000017.11:46159702 1 0 0 0 0 540664392, NG_032784.1:g.70673T>A, NC_000017.10:g.44237068=, NC_000017.11:g.46159702=, rs2532292, 2532292, 17585312, NC_000017.10:g.44237068A>T, NG_032784.1:g.70673=, 57972309, 117912506, NC_000017.11:g.46159702A>T +PA166154551 rs2532560 PA25507 PARP11 NC_000012.12:4052705 1 1 0 0 0 rs59698755, 59698755, rs2532560, 2532560, NC_000012.12:g.4052705G>C, 17490679, NC_000012.12:g.4052705G>A, NC_000012.12:g.4052705=, NC_000012.11:g.4161871G>A, NC_000012.11:g.4161871G>C, rs17490679, NC_000012.11:g.4161871= +PA166210009 rs2533200 PA27468 DPP6 NC_000007.14:153791989 1 1 0 0 0 2533200, rs2533200, 6964523, NG_033878.2:g.49004C>G, NC_000007.13:g.153489074C>G, NC_000007.14:g.153791989=, 10374375, NG_033878.2:g.49004=, NC_000007.13:g.153489074=, NC_000007.14:g.153791989C>G +PA166159627 rs2535629 PA29966 ITIH3 NC_000003.12:52799203 1 1 0 0 0 NC_000003.12:g.52799203G>A, NC_000003.12:g.52799203G>C, NC_000003.11:g.52833219G>C, NC_000003.11:g.52833219=, NC_000003.11:g.52833219G>A, rs2535629, 2535629, NC_000003.12:g.52799203=, 56511516 +PA166252924 rs2535764 PA34323 RELN NC_000007.14:103552085 1 0 0 0 0 2535764, NC_000007.13:g.103192532=, NG_011877.2:g.442432G>C, NG_011877.2:g.442432G>A, NC_000007.14:g.103552085C>T, NC_000007.14:g.103552085=, 17310826, NC_000007.13:g.103192532C>G, NG_011877.2:g.442432=, 60752203, NC_000007.13:g.103192532C>T, NC_000007.14:g.103552085C>G, rs2535764 +PA166154376 rs2542051 PA53 APOC3 NC_000011.10:116827022 1 0 0 0 0 35585311, NC_000011.9:g.116697738=, NG_008949.1:g.2115=, NG_008949.1:g.2115C>G, NC_000011.10:g.116827022C>A, NG_008949.1:g.2115C>A, NG_012044.1:g.1274G>C, NG_012044.1:g.1274=, NC_000011.10:g.116827022=, NC_000011.10:g.116827022C>G, rs35585311, rs2542051, 2542051, NC_000011.9:g.116697738C>G, NC_000011.9:g.116697738C>A, NG_012044.1:g.1274G>T +PA166154377 rs2542052 PA53 APOC3 NC_000011.10:116829268 1 0 0 0 0 45473900, 17257727, 55910034, NG_008949.1:g.4361=, NG_008949.1:g.4361A>C, 2542052, NC_000011.10:g.116829268=, rs55910034, NC_000011.9:g.116699984A>C, NC_000011.9:g.116699984=, rs2542052, rs17257727, NC_000011.10:g.116829268A>C, NM_000040.1:c.-686A>C, rs45473900 +PA166155284 rs2542151 NC_000018.10:12779948 1 0 0 0 0 2542151, rs59359578, rs2542151, NC_000018.10:g.12779948G>T, 56547811, NC_000018.9:g.12779947G>T, rs59874292, rs56547811, 59874292, NC_000018.9:g.12779947=, 59359578, NC_000018.10:g.12779948= +PA166178547 rs254271 PA33814 PRPF31 NC_000019.10:54127382 1 1 0 0 0 NC_000019.10:g.54127382C>A, NG_009759.1:g.16968G>T, NC_000019.9:g.54630757G>T, 57030108, 254271, 59851167, rs254271, NC_000019.10:g.54127382C>T, 591081, NC_000019.10:g.54127382C>G, NG_009759.1:g.16968G>C, NC_000019.10:g.54127382=, NC_000019.9:g.54630757G>C, NC_000019.9:g.54630757G>A, NG_009759.1:g.16968G>A +PA166161853 rs2546890 NC_000005.10:159332892 3 1 0 0 0 17875296, 57637605, NG_009618.1:g.2582=, 2546890, NC_000005.10:g.159332892A>G, rs2546890, NC_000005.9:g.158759900=, NC_000005.9:g.158759900A>G, NC_000005.10:g.159332892=, NG_009618.1:g.2582T>C +PA166155346 rs25487 PA369 XRCC1 NC_000019.10:43551574 37 4 0 0 0 NC_000019.10:g.43551574=, rs17435395, 25487, NC_000019.9:g.44055726=, 3817410, 386493716, rs11553658, 11553658, NP_006288.2:p.Gln399Arg, rs3817410, NG_033799.1:g.29005=, rs386493716, rs57378728, NP_006288.2:p.Gln399Pro, 17435395, NP_006288.2:p.Gln399=, NC_000019.10:g.43551574T>G, rs25487, NG_033799.1:g.29005A>G, NC_000019.10:g.43551574T>C, 57378728, NG_033799.1:g.29005A>C, NM_006297.2:c.1196A>G, NC_000019.9:g.44055726T>G, NC_000019.9:g.44055726T>C +PA166155347 rs25489 PA369 XRCC1 NC_000019.10:43552260 4 0 0 0 0 NM_006297.2:c.839G>A, NG_033799.1:g.28319G>A, rs17435388, NC_000019.10:g.43552260C>T, NP_006288.2:p.Arg280His, NC_000019.9:g.44056412=, NP_006288.2:p.Arg280=, 2229675, NG_033799.1:g.28319=, rs2229675, NC_000019.9:g.44056412C>G, 25489, rs25489, NG_033799.1:g.28319G>C, 17435388, NC_000019.10:g.43552260C>G, 2307183, NP_006288.2:p.Arg280Pro, NC_000019.10:g.43552260=, rs2307183, NC_000019.9:g.44056412C>T +PA166160455 rs2549714 NC_000016.10:80841366 1 0 0 0 0 rs2549714, 61194746, NC_000016.10:g.80841366C>A, NC_000016.9:g.80875263C>A, NC_000016.9:g.80875263=, 2549714, NC_000016.10:g.80841366= +PA166155041 rs2550731 PA37398 WWOX NC_000016.10:79010752 1 0 0 0 0 NG_011698.1:g.916099G>T, NC_000016.10:g.79010752G>C, NG_011698.1:g.916099=, NM_016373.3:c.1057-200856G>T, XR_243411.1:n.1336+14396G>T, NC_000016.10:g.79010752=, XM_011523100.1:c.1153-200856G>T, 17711395, NC_000016.9:g.79044649=, XM_005255982.1:c.517-200856G>T, XM_005255980.1:c.410-200856G>T, 56829687, NC_000016.9:g.79044649G>C, NC_000016.10:g.79010752G>T, XM_011523103.1:c.*29-200856G>T, NM_001291997.1:c.718-200856G>T, XM_005255981.1:c.718-200856G>T, rs56829687, rs17711395, rs2550731, NC_000016.9:g.79044649G>T, 2550731, NG_011698.1:g.916099G>C +PA166156802 rs2550948 PA311 SLC6A3 NC_000005.10:1450329 3 0 0 0 0 NG_015885.1:g.100G>A, NT_187547.1:g.59444G>A, NC_000005.10:g.1450329C>T, 10070282, rs61611069, NC_000005.10:g.1450329=, NG_015885.1:g.100=, rs2550948, 2550948, 61611069, NC_000005.9:g.1450444C>T, rs10070282, NC_000005.9:g.1450444= +PA166156803 rs2550956 PA311 SLC6A3 NC_000005.10:1447726 2 0 0 0 0 56526632, NT_187547.1:g.62047C>T, rs58277534, 58277534, 61191078, NG_015885.1:g.2703=, NC_000005.10:g.1447726=, rs2550956, NC_000005.9:g.1447841G>A, NC_000005.9:g.1447841=, NG_015885.1:g.2703C>T, rs56526632, 2550956, NC_000005.10:g.1447726G>A, rs61191078 +PA166157250 rs255100 PA26875 CRHR2 NC_000007.14:30689292 3 1 0 0 0 NC_000007.14:g.30689292A>G, NM_001202481.1:c.-260-8T>A, NC_000007.13:g.30728908=, rs255100, NG_029169.1:g.15812=, 255100, NC_000007.14:g.30689292=, NC_000007.13:g.30728908A>G, NM_001202475.1:c.91-8T>A, 59753946, NC_000007.13:g.30728908A>T, NG_029169.1:g.15812T>A, rs59753946, NG_029169.1:g.15812T>C, NC_000007.14:g.30689292A>T +PA166179949 rs2551038 PA29286 HINT1 NC_000005.10:131160446 1 0 0 0 0 NC_000005.9:g.130496139C>T, NC_000005.10:g.131160446=, NC_000005.10:g.131160446C>G, NG_032998.1:g.9903G>T, NC_000005.9:g.130496139C>G, NC_000005.10:g.131160446C>A, NG_032998.1:g.9903=, NC_000005.9:g.130496139=, NC_000005.9:g.130496139C>A, 57028125, 2551038, 17714717, NG_032998.1:g.9903G>A, NG_032998.1:g.9903G>C, rs2551038, NC_000005.10:g.131160446C>T +PA166161258 rs2551919 PA26864 CREB1 NC_000002.12:207565659 1 0 0 0 0 NC_000002.12:g.207565659C>T, NC_000002.11:g.208430383C>T, NG_023299.1:g.40768=, NG_023299.1:g.40768C>T, 2551919, NC_000002.12:g.207565659=, rs2551919, NC_000002.11:g.208430383= +PA166155159 rs25531 PA312 SLC6A4 NC_000017.11:30237328 15 3 0 0 0 NG_011747.2:g.3609A>G, rs2020931, XR_934652.1:n.-225T>C, NC_000017.10:g.28564346T>C, XR_934653.1:n.-225T>C, rs35593448, NG_055470.1:g.1948T>C, 25531, 2020931, NM_001045.5:c.-1936A>G, rs25531, NC_000017.11:g.30237328T>C, NG_011747.2:g.3609=, XR_934654.1:n.165+258T>C, NG_055470.1:g.1948=, 35593448, NC_000017.10:g.28564346=, XM_005258025.1:c.-1810A>G, NC_000017.11:g.30237328=, XR_934655.1:n.-225T>C +PA166155399 rs2562456 NC_000019.10:21483408 1 1 0 0 0 NC_000019.9:g.21666210C>T, NC_000019.9:g.21666210=, rs61109516, NC_000019.10:g.21483408=, rs111196543, 61109516, NC_000019.10:g.21483408C>T, 111196543, NR_037194.1:n.-307C>T, rs2562456, 2562456 +PA166156804 rs2562519 PA134986024 POLR3G NC_000005.10:90485154 1 1 0 0 0 rs2562519, XM_005248405.1:c.-43-371C>T, XM_011543100.1:c.-43-371C>T, 2562519, XM_006714520.2:c.-33-381C>T, XM_005248407.1:c.-33-381C>T, NC_000005.10:g.90485154C>G, XM_011543101.1:c.-33-381C>T, XM_011543104.1:c.-33-381C>T, XM_011543103.1:c.-43-371C>T, rs57639746, 57639746, XM_005248404.1:c.-33-381C>T, XM_005248404.2:c.-33-381C>T, NC_000005.10:g.90485154=, NM_006467.2:c.-43-371C>T, XM_006714519.2:c.-43-371C>T, XM_011543105.1:c.-1224C>T, NC_000005.9:g.89780971=, NC_000005.9:g.89780971C>G, XM_011543106.1:c.-43-371C>T, NC_000005.10:g.90485154C>T, XM_005248406.1:c.-43-371C>T, NC_000005.9:g.89780971C>T, XM_011543102.1:c.-33-381C>T +PA166156906 rs25648 PA37302 VEGFA NC_000006.12:43771240 6 1 0 0 0 NM_001204385.1:c.534C>T, NC_000006.11:g.43738977C>G, NM_001171628.1:c.-7C>T, NP_001020541.2:p.Ser178=, NG_008732.1:g.6025C>T, NM_001317010.1:c.-7C>T, NP_001020540.2:p.Ser178=, NP_001020537.2:p.Ser178=, NM_001171626.1:c.-7C>T, NM_001287044.1:c.-880C>T, NM_001025370.2:c.534C>T, 25648, NM_001025368.2:c.534C>T, NM_001171625.1:c.-7C>T, NP_001191314.1:p.Ser178=, NC_000006.11:g.43738977C>T, NM_001171623.1:c.-7C>T, NG_008732.1:g.6025=, NM_001025367.2:c.534C>T, NC_000006.11:g.43738977=, NM_001025369.2:c.534C>T, NM_003376.5:c.534C>T, NM_001033756.2:c.534C>T, NP_003367.4:p.Ser178=, NC_000006.12:g.43771240C>T, NM_001171622.1:c.534C>T, NM_001025366.2:c.534C>T, NM_001171627.1:c.-7C>T, NP_001028928.1:p.Ser178=, rs25648, NP_001165093.1:p.Ser178=, NC_000006.12:g.43771240=, NM_001171630.1:c.-7C>T, NC_000006.12:g.43771240C>G, NG_008732.1:g.6025C>G, XM_005249363.1:c.-880C>T, NM_001171624.1:c.-7C>T, NM_001204384.1:c.-7C>T, NP_001020538.2:p.Ser178=, NP_001020539.2:p.Ser178=, NM_001171629.1:c.-7C>T +PA166154378 rs2566255 NC_000011.10:4583965 1 0 0 0 0 NC_000011.10:g.4583965=, NC_000011.9:g.4605195=, rs2566255, NC_000011.10:g.4583965G>C, 2566255, rs57500271, 57500271, NC_000011.9:g.4605195G>C +PA166165249 rs25678 PA26121 CBR1 NC_000021.9:36070334 2 0 0 0 0 NP_001748.1:p.Leu73=, 3171442, NC_000021.8:g.37442632G>T, NC_000021.9:g.36070334G>C, NC_000021.9:g.36070334G>T, NC_000021.9:g.36070334=, NC_000021.8:g.37442632=, NC_000021.8:g.37442632G>C, 25678, rs25678 +PA166156805 rs2569190 PA26188,PA162405810 CD14,TMCO6 NC_000005.10:140633331 3 1 0 0 0 XM_011537665.1:c.-129-8334A>G, NM_001174105.1:c.-121-139T>C, NC_000005.10:g.140633331=, NG_023178.1:g.5371T>A, NM_001174104.1:c.-221-39T>C, NC_000005.10:g.140633331A>T, NG_023178.1:g.5371T>C, NG_023178.1:g.5371=, 59568848, NM_000591.3:c.-260T>C, rs17524551, NC_000005.9:g.140012916A>T, NG_023178.1:g.5371T>G, NC_000005.10:g.140633331A>C, 17524551, NC_000005.9:g.140012916A>C, rs2569190, NC_000005.10:g.140633331A>G, rs59568848, NC_000005.9:g.140012916A>G, NM_001040021.2:c.-121-139T>C, 2569190, NC_000005.9:g.140012916= +PA166157364 rs2571598 PA20 ACHE NC_000007.14:100892018 2 1 0 0 0 NG_007474.1:g.8903G>A, 57627110, NC_000007.14:g.100892018C>G, NC_000007.13:g.100489639C>G, NC_000007.14:g.100892018=, XM_011516229.1:c.1553+316G>A, NM_001302622.1:c.1553+316G>A, NG_007474.2:g.9116G>A, NG_007474.2:g.9116G>C, XM_005250359.1:c.1289+316G>A, rs2571598, NM_000665.4:c.1553+316G>A, XM_005250358.1:c.1553+316G>A, 2571598, XM_006715995.2:c.1553+316G>A, NM_001302621.1:c.1553+316G>A, rs17880361, XM_011516226.1:c.1787+316G>A, XM_011516227.1:c.1553+316G>A, NC_000007.13:g.100489639=, NG_007474.2:g.9116=, rs57627110, NM_001282449.1:c.1289+316G>A, XM_011516225.1:c.2051+316G>A, XM_011516228.1:c.1553+316G>A, XR_927464.1:n.1924+316G>A, XR_927465.1:n.1615-680G>A, NM_015831.2:c.1553+316G>A, 17880361, NC_000007.13:g.100489639C>T, NC_000007.14:g.100892018C>T, XM_005250357.1:c.1553+316G>A +PA166157365 rs2572023 PA32123 OR2AE1 NC_000007.14:99876804 1 0 0 0 0 NC_000007.14:g.99876804=, NC_000007.14:g.99876804A>G, 58768647, NM_001005276.1:c.230T>C, 17277317, NP_001005276.1:p.Ile77=, NC_000007.13:g.99474427=, NC_000007.13:g.99474427A>G, NP_001005276.1:p.Ile77Thr, rs2572023, 2572023, rs17277317, rs58768647 +PA166210010 rs2582405 NC_000008.11:56512315 1 1 0 0 0 61654308, NC_000008.11:g.56512315T>C, NC_000008.10:g.57424874T>G, 2582405, NC_000008.11:g.56512315=, NC_000008.11:g.56512315T>A, NC_000008.11:g.56512315T>G, NC_000008.10:g.57424874=, NC_000008.10:g.57424874T>C, rs2582405, NC_000008.10:g.57424874T>A +PA166156721 rs258494 NC_000005.10:75742893 1 0 0 0 0 NC_000005.10:g.75742893C>G, NC_000005.9:g.75038718C>A, rs258494, NC_000005.9:g.75038718C>T, NC_000005.10:g.75742893=, NC_000005.10:g.75742893C>T, NC_000005.9:g.75038718C>G, NC_000005.10:g.75742893C>A, rs1689663, 1689663, NC_000005.9:g.75038718=, 258494 +PA166155928 rs2585428 PA27097 CYP24A1 NC_000020.11:54170358 2 2 0 0 0 XM_005260304.1:c.544-670G>A, XM_005260304.3:c.544-670G>A, NM_001128915.1:c.544-670G>A, NC_000020.10:g.52786897C>T, 2585428, rs2585428, XM_005260305.1:c.544-670G>A, NM_000782.4:c.544-670G>A, NC_000020.11:g.54170358C>T, NC_000020.10:g.52786897=, NG_008334.1:g.8620G>A, NG_008334.1:g.8620=, NC_000020.11:g.54170358= +PA166259541 rs258747 NC_000005.10:143277248 1 0 0 0 0 NC_000005.9:g.142656813A>G, 258747, NC_000005.10:g.143277248A>G, NG_009062.1:g.163265T>C, 1635461, 17287752, NC_000005.10:g.143277248=, NC_000005.9:g.142656813=, rs258747, 60829690, NG_009062.1:g.163265= +PA166176618 rs258751 PA181 NR3C1 NC_000005.10:143282715 1 0 0 0 0 NC_000005.9:g.142662280G>A, 57802924, NG_009062.1:g.157798C>G, NC_000005.9:g.142662280G>C, 258751, NC_000005.10:g.143282715G>C, NG_009062.1:g.157798C>T, 2118724, NC_000005.10:g.143282715G>A, NP_000167.1:p.Asp678Glu, NG_009062.1:g.157798=, rs258751, NC_000005.10:g.143282715=, NC_000005.9:g.142662280G>T, NP_000167.1:p.Asp678=, NC_000005.10:g.143282715G>T, NG_009062.1:g.157798C>A, NC_000005.9:g.142662280= +PA166154379 rs2587548 PA27478 DRD2 NC_000011.10:113421490 1 0 0 0 0 rs17414405, 2587548, rs2587548, 57523198, NC_000011.9:g.113292212G>A, NC_000011.9:g.113292212G>C, NC_000011.10:g.113421490=, XM_005271426.1:c.289+2873C>G, NG_008841.1:g.58790C>T, NG_008841.1:g.58790=, NC_000011.10:g.113421490G>A, rs57523198, NC_000011.10:g.113421490G>C, NM_016574.3:c.285+2877C>G, NC_000011.9:g.113292212=, NM_000795.3:c.285+2877C>G, XM_005271425.1:c.285+2877C>G, NG_008841.1:g.58790C>G, 17414405 +PA166154380 rs2587550 PA134872551 ANKK1 NC_000011.10:113402203 1 0 0 0 0 NC_000011.10:g.113402203G>A, rs56875925, NG_012976.1:g.19413G>A, 2587550, 56875925, rs2587550, NC_000011.9:g.113272925G>A, NG_012976.1:g.19413=, NC_000011.10:g.113402203=, NC_000011.9:g.113272925= +PA166155685 rs2592551 PA28660 GGCX NC_000002.12:85553008 1 1 0 0 0 NC_000002.11:g.85780131=, XM_005264259.3:c.1218C>T, NM_000821.6:c.1218C>T, XP_011531066.1:p.Arg132=, XP_011531067.1:p.Arg132=, NP_000812.2:p.Arg406=, XR_939677.1:n.1283C>T, 61110673, NG_011811.2:g.13527=, 118075290, XM_011532765.1:c.396C>T, NP_001135741.1:p.Arg349=, XP_005264316.1:p.Arg406=, NG_011811.2:g.13527C>T, NM_001142269.3:c.1047C>T, NC_000002.12:g.85553008G>A, 2592551, rs2592551, NC_000002.11:g.85780131G>A, rs61110673, XM_011532764.1:c.396C>T, XM_005264259.1:c.1218C>T, NC_000002.12:g.85553008=, rs118075290 +PA166164899 rs2595500 PA37586 ZNF215 NC_000011.10:6941934 1 0 0 0 0 rs2595500, 56501297, NC_000011.9:g.6963165=, 2595500, 117189681, 60715751, NC_000011.9:g.6963165A>G, 386570206, NC_000011.10:g.6941934=, 17191875, NC_000011.10:g.6941934A>G +PA166156806 rs2600834 PA134892408 SLCO4C1 NC_000005.10:102269937 1 0 0 0 0 NC_000005.9:g.101605641T>C, NC_000005.9:g.101605641T>A, NC_000005.9:g.101605641=, 10395200, XM_011543372.1:c.388+687A>G, XM_011543370.1:c.538+687A>G, NM_180991.4:c.802+687A>G, rs58191158, rs2600834, NC_000005.9:g.101605641T>G, 2600834, NC_000005.10:g.102269937T>A, NC_000005.10:g.102269937T>C, NC_000005.10:g.102269937T>G, rs10395200, NC_000005.10:g.102269937=, 58191158, XM_011543371.1:c.454+687A>G +PA166154899 rs2606345 PA27092 CYP1A1 NC_000015.10:74724835 7 2 0 0 0 NM_001319217.1:c.-30+606G>T, XM_005254188.1:c.-30+606G>T, NM_000499.4:c.-27+606G>T, rs17861098, NG_061374.1:g.5694=, NG_061374.1:g.5694G>T, NG_055242.1:g.1141=, NC_000015.10:g.74724835=, 17861098, NM_000499.3:c.-27+606G>T, NG_008431.2:g.7294=, NG_008431.1:g.7294C>A, 2606345, rs2606345, NM_001319216.1:c.-30+606G>T, XM_005254189.1:c.-221+606G>T, NC_000015.10:g.74724835C>A, NG_055242.1:g.1141C>A, NG_008431.2:g.7294C>A, NC_000015.9:g.75017176=, XM_005254186.1:c.-30+330G>T, XM_005254187.1:c.-30+606G>T, NC_000015.9:g.75017176C>A, XM_005254185.1:c.-30+606G>T +PA166179908 rs2606731 PA29456 HRH1 NC_000003.12:11249929 1 0 0 0 0 2606731, rs2606731, 10294274, NC_000003.11:g.11291615A>T, NC_000003.11:g.11291615A>C, NC_000003.12:g.11249929A>T, NC_000003.12:g.11249929=, NC_000003.12:g.11249929A>C, NC_000003.11:g.11291615=, NC_000003.11:g.11291615A>G, NC_000003.12:g.11249929A>G, 4684767 +PA166164901 rs2607659 PA34866 RRM2B NC_000008.11:102227775 2 0 0 0 0 NC_000008.10:g.103240003A>G, NC_000008.11:g.102227775A>G, NC_000008.10:g.103240003A>C, NC_000008.11:g.102227775A>C, NG_016617.1:g.16344T>C, rs2607659, NG_016617.1:g.16344T>G, 2607659, 61374338, NG_016617.1:g.16344=, 57069989, NC_000008.11:g.102227775=, NC_000008.10:g.103240003= +PA166155285 rs2612091 PA134897613 ENOSF1 NC_000018.10:683607 7 1 0 0 0 XM_011525684.1:c.553-212G>A, XR_243812.1:n.938-227G>A, XM_011525696.1:c.199-212G>A, XM_005258120.1:c.157-227G>A, NC_000018.9:g.683607C>T, XM_011525677.1:c.769-212G>A, NM_017512.5:c.742-227G>A, XM_011525694.1:c.310-227G>A, NM_001318759.1:c.742-227G>A, XM_005258116.1:c.496-227G>A, XR_243811.2:n.803-227G>A, XM_011525699.1:c.157-212G>A, NC_000018.9:g.683607C>G, 2612091, XM_011525682.1:c.703-212G>A, XM_011525691.1:c.310-212G>A, XM_011525692.1:c.310-212G>A, XM_011525685.1:c.541-212G>A, XM_005258114.1:c.514-227G>A, XM_011525679.1:c.769-227G>A, XM_005258117.1:c.310-227G>A, XM_011525683.1:c.580-212G>A, XM_011525693.1:c.310-212G>A, XM_005258118.2:c.199-227G>A, XM_011525690.1:c.364-212G>A, 61671949, XM_005258118.1:c.199-227G>A, XM_005258113.1:c.658-227G>A, XM_011525687.1:c.514-227G>A, XM_011525680.1:c.742-212G>A, XM_005258112.1:c.661-227G>A, NC_000018.10:g.683607C>T, XR_243811.1:n.803-227G>A, XR_935066.1:n.778-212G>A, NC_000018.9:g.683607=, XR_243810.3:n.778-227G>A, XR_430041.2:n.940-227G>A, XM_011525678.1:c.760-212G>A, XM_011525688.1:c.496-212G>A, XM_011525681.1:c.730-212G>A, XM_011525686.1:c.517-212G>A, XM_011525697.1:c.157-212G>A, rs2612091, XM_005258115.1:c.496-227G>A, NM_001126123.3:c.496-227G>A, XR_243810.1:n.937-227G>A, rs61671949, XM_011525695.1:c.271-212G>A, XM_011525689.1:c.364-212G>A, NM_001318760.1:c.199-227G>A, NM_202758.3:c.805-227G>A, XM_011525698.1:c.157-212G>A, NC_000018.10:g.683607C>G, XR_935067.1:n.778-212G>A, NC_000018.10:g.683607=, XM_005258111.1:c.886-227G>A +PA166179574 rs261316 NC_000015.10:58341621 1 1 0 0 0 NC_000015.9:g.58633820=, rs261316, 58706511, 261316, 2115903, NC_000015.10:g.58341621C>T, NC_000015.9:g.58633820C>T, NC_000015.10:g.58341621= +PA166218701 rs2614095 PA33485 PNOC NC_000008.11:28327474 1 0 0 0 0 17415458, NC_000008.10:g.28184991=, NC_000008.11:g.28327474G>T, NC_000008.11:g.28327474G>A, NC_000008.10:g.28184991G>A, NC_000008.11:g.28327474=, rs2614095, 2614095, NC_000008.10:g.28184991G>T +PA166160920 rs2617102 PA26947 CSMD1 NC_000008.11:4606687 1 0 0 0 0 2617102, 58710244, rs2617102, NC_000008.11:g.4606687=, NC_000008.11:g.4606687A>C, NC_000008.10:g.4464209A>C, NC_000008.11:g.4606687A>G, NC_000008.10:g.4464209A>G, NC_000008.10:g.4464209= +PA166177387 rs2619112 PA48 ALOX15 NC_000017.11:4632090 1 0 0 0 0 60202597, NC_000017.10:g.4535385=, 386570650, NC_000017.10:g.4535385A>C, NC_000017.10:g.4535385A>G, NC_000017.11:g.4632090=, NC_000017.11:g.4632090A>C, 2619112, rs2619112, NC_000017.11:g.4632090A>G +PA166157042 rs2619522 PA27512 DTNBP1 NC_000006.12:15653418 1 0 0 0 0 NG_009309.1:g.14623T>G, NR_036448.1:n.385-1278T>G, NM_001271667.1:c.-232-1278T>G, rs2619522, 2619522, NC_000006.12:g.15653418=, NM_001271668.1:c.57-1278T>G, NM_183040.2:c.57-1278T>G, 59992850, NM_032122.4:c.57-1278T>G, NC_000006.12:g.15653418A>C, XM_011514936.1:c.18-1278T>G, rs59992850, XM_005249447.1:c.18-1278T>G, XM_005249447.3:c.18-1278T>G, NC_000006.11:g.15653649A>C, NG_009309.1:g.14623=, NM_001271669.1:c.56+9396T>G, NC_000006.11:g.15653649= +PA166157043 rs2619538 PA27512 DTNBP1 NC_000006.12:15664978 2 1 0 0 0 9476889, NG_009309.1:g.3063T>A, NC_000006.12:g.15664978A>T, 2619538, rs2619538, NR_036448.1:n.-1920T>A, NC_000006.12:g.15664978=, NC_000006.11:g.15665209A>T, XR_926529.1:n.1242T>A, NC_000006.11:g.15665209=, NM_183040.2:c.-2109T>A, NM_001271667.1:c.-2397T>A, NM_001271668.1:c.-2109T>A, NM_001271669.1:c.-2109T>A, NM_032122.4:c.-2109T>A, XM_011514936.1:c.-2287T>A, NG_009309.1:g.3063=, rs9476889 +PA166157044 rs2619539 PA27512 DTNBP1 NC_000006.12:15620624 1 0 0 0 0 17472342, NM_001271667.1:c.113-5225G>C, rs2619539, NC_000006.11:g.15620855C>G, NM_183040.2:c.356-5225G>C, 2619539, NG_009309.1:g.47417G>T, NM_001271668.1:c.305-5225G>C, NC_000006.12:g.15620624C>G, XM_011514936.1:c.266-5225G>C, 60204398, NG_009309.1:g.47417=, NM_032122.4:c.356-5225G>C, NG_009309.1:g.47417G>C, NM_001271669.1:c.251-5225G>C, rs17472342, XM_005249447.3:c.317-5225G>C, NC_000006.12:g.15620624C>A, NR_036448.1:n.684-5225G>C, NC_000006.12:g.15620624=, NC_000006.11:g.15620855=, rs60204398, XM_005249447.1:c.317-5225G>C, NC_000006.11:g.15620855C>A +PA166156561 rs2622604 PA390 ABCG2 NC_000004.12:88157772 12 0 0 0 0 rs2622604, NM_004827.2:c.-20+614A>G, NC_000004.12:g.88157772T>A, NC_000004.12:g.88157772T>C, NC_000004.11:g.89078924T>C, 2622604, XM_011532420.1:c.-19-17758A>G, NC_000004.11:g.89078924T>A, NG_032067.2:g.78551A>G, XM_005263355.1:c.-19-17758A>G, rs61481684, NC_000004.11:g.89078924=, NG_032067.2:g.78551=, XM_005263354.2:c.-20+805A>G, XM_005263354.1:c.-20+805A>G, NC_000004.12:g.88157772=, NG_032067.2:g.78551A>T, NM_001257386.1:c.-19-17758A>G, XM_005263356.1:c.-20+614A>G, 61481684, XM_005263356.2:c.-20+614A>G, XM_005263355.2:c.-19-17758A>G +PA166181278 rs2622621 PA390 ABCG2 NC_000004.12:88109768 1 0 0 0 0 2622621, NC_000004.12:g.88109768C>A, rs2622621, NC_000004.11:g.89030920C>G, NG_032067.2:g.126555G>C, NC_000004.11:g.89030920=, 56472680, NG_032067.2:g.126555G>T, NC_000004.11:g.89030920C>A, NC_000004.12:g.88109768C>G, NC_000004.12:g.88109768=, NG_032067.2:g.126555= +PA166156562 rs2622628 PA390 ABCG2 NC_000004.12:88108100 2 0 0 0 0 rs2622628, NC_000004.11:g.89029252=, NC_000004.12:g.88108100A>G, NG_032067.2:g.128223T>G, NG_032067.2:g.128223T>C, 2622628, XM_005263354.2:c.1195-834T>G, rs59698865, NC_000004.12:g.88108100=, NM_001257386.1:c.1195-834T>G, NC_000004.12:g.88108100A>C, XM_005263355.1:c.1195-834T>G, NM_004827.2:c.1195-834T>G, XM_005263356.2:c.1189-834T>G, 386570725, 59698865, rs386570725, XM_011532420.1:c.1195-834T>G, NC_000004.11:g.89029252A>C, rs61074534, NG_032067.2:g.128223=, XM_005263354.1:c.1195-834T>G, XM_005263355.2:c.1195-834T>G, NC_000004.11:g.89029252A>G, XM_005263356.1:c.1189-834T>G, 61074534 +PA166170028 rs26279 PA31134 MSH3 NC_000005.10:80873118 1 0 0 0 0 NG_016607.2:g.223644=, NP_002430.3:p.Ala1045Thr, NG_016607.2:g.223644G>A, 1644176, 26279, NC_000005.10:g.80873118G>A, NC_000005.9:g.80168937=, NG_016607.1:g.223644G>A, 58981124, NG_016607.1:g.223644=, rs26279, 17274719, NP_002430.3:p.Ala1045=, NC_000005.10:g.80873118=, NC_000005.9:g.80168937G>A, 52832672 +PA166156807 rs2631367 PA333 SLC22A5 NC_000005.10:132369766 4 1 0 0 0 NC_000005.10:g.132369766C=, NG_008982.1:g.5058C=, NM_003060.2:c.-207C>G, NC_000005.9:g.131705458C>T, NM_001308122.1:c.-207C>G, NR_037898.1:n.73+78G=, XR_948291.1:n.63C=, XR_427718.1:n.63C>G, 2631367, rs2631367, NG_008982.1:g.5058=, NC_000005.9:g.131705458C>A, XM_005272056.1:c.-607C=, XR_948291.1:n.63C>G, NG_008982.2:g.5063C>A, XM_005272055.2:c.-207C>G, NM_001308122.1:c.-207C=, NM_003060.2:c.-207C=, NC_000005.9:g.131705458C>G, NC_000005.10:g.132369766C>A, NC_000005.10:g.132369766C>G, NC_000005.10:g.132369766=, NG_008982.2:g.5063C>G, NC_000005.9:g.131705458C=, NG_008982.2:g.5063C>T, XR_427718.1:n.63C=, XM_005272055.1:c.-207C=, NG_008982.1:g.5058C>G, NG_008982.1:g.5058C>T, NC_000005.10:g.132369766C>T, rs57867328, NC_000005.9:g.131705458=, NM_003060.3:c.-207C>G, NR_110997.1:n.73+78G=, NR_110997.1:n.73+78G>C, XM_005272055.2:c.-207C=, XR_948290.1:n.63C>G, 57867328, XR_948290.1:n.63C=, NM_003060.3:c.-207C=, NG_008982.1:g.5058C>A, NG_008982.2:g.5063= +PA166175783 rs2631370 PA333 SLC22A5 NC_000005.10:132368084 3 0 0 0 0 NC_000005.9:g.131703776T>G, NG_008982.1:g.3376T>G, NC_000005.10:g.132368084=, 2631370, NC_000005.9:g.131703776T>C, rs2631370, NC_000005.9:g.131703776T>A, 11566820, NC_000005.9:g.131703776=, NG_008982.2:g.3381T>C, NG_008982.2:g.3381=, NC_000005.10:g.132368084T>C, NG_008982.1:g.3376=, NC_000005.10:g.132368084T>A, NG_008982.2:g.3381T>A, NG_008982.1:g.3376T>C, NG_008982.2:g.3381T>G, NC_000005.10:g.132368084T>G, NG_008982.1:g.3376T>A +PA166156808 rs2631372 PA333 SLC22A5 NC_000005.10:132367886 4 1 0 0 0 NG_008982.2:g.3183G>T, NR_037898.1:n.74-1105C>G, 11566819, NC_000005.10:g.132367886G>T, NG_008982.1:g.3178G>C, rs11566819, NR_110997.1:n.74-1105C>G, 56474080, NG_008982.1:g.3178=, NC_000005.10:g.132367886=, rs56474080, rs2631372, NM_003060.3:c.-2087G>C, XM_005272055.2:c.-2087G>C, NM_001308122.1:c.-2087G>C, 60463662, NC_000005.9:g.131703578=, NC_000005.9:g.131703578G>T, 2631372, XR_427718.1:n.-1818G>C, NG_008982.2:g.3183=, XR_948290.1:n.-1818G>C, XR_948291.1:n.-1818G>C, rs60463662, NC_000005.10:g.132367886G>C, NG_008982.1:g.3178G>T, XM_005272055.1:c.-2087G>C, NC_000005.9:g.131703578G>C, NG_008982.2:g.3183G>C +PA166184308 rs2636697 PA142671159 PPA2 NC_000004.12:105376356 1 1 0 0 0 NG_053007.1:g.102715C>A, NC_000004.12:g.105376356G>C, NC_000004.11:g.106297513G>T, NC_000004.12:g.105376356=, 61014416, NC_000004.12:g.105376356G>A, 2636697, rs2636697, 61209182, NC_000004.11:g.106297513G>C, NG_053007.1:g.102715C>T, NC_000004.11:g.106297513G>A, NC_000004.12:g.105376356G>T, NG_053007.1:g.102715=, NC_000004.11:g.106297513=, NG_053007.1:g.102715C>G +PA166184309 rs2636719 PA142671159 PPA2 NC_000004.12:105432212 1 1 0 0 0 60658048, NG_053007.1:g.46859T>G, rs2636719, NC_000004.11:g.106353369=, NC_000004.11:g.106353369A>C, NG_053007.1:g.46859=, NC_000004.12:g.105432212=, 2636719, NC_000004.12:g.105432212A>C +PA166156563 rs2637777 PA164719952 FAT1 NC_000004.12:186603866 1 0 0 0 0 XM_006714139.2:c.10660T>G, NM_005245.3:c.10660T>G, NG_046994.1:g.128050T>A, NP_005236.2:p.Ser3554=, NC_000004.11:g.187525020=, XM_005262834.2:c.10660T>G, rs17635884, rs57359486, NC_000004.11:g.187525020A>C, XP_006714202.1:p.Ser3554Ala, NP_005236.2:p.Ser3554Thr, XM_005262834.1:c.10660T>G, NC_000004.12:g.186603866A>C, NC_000004.11:g.187525020A>T, NG_046994.1:g.128050T>G, XM_005262835.1:c.10660T>G, 17635884, NG_046994.1:g.128050=, NC_000004.12:g.186603866A>T, rs2637777, NP_005236.2:p.Ser3554Ala, 2637777, 3733404, rs3733404, XP_005262891.1:p.Ser3554Ala, 52812769, NC_000004.12:g.186603866=, 57359486, XP_005262892.1:p.Ser3554Ala, rs52812769 +PA166156359 rs2640543 PA43 AGTR1 NC_000003.12:148714582 1 0 0 0 0 NC_000003.12:g.148714582A>T, rs2640543, NM_009585.3:c.-48+16455A>G, 2640543, 59156576, NG_008468.1:g.21712A>C, NG_008468.1:g.21712A>G, 17237176, NC_000003.11:g.148432369=, NC_000003.11:g.148432369A>C, NG_008468.1:g.21712=, NC_000003.11:g.148432369A>G, rs59156576, NC_000003.12:g.148714582A>G, NM_031850.3:c.-1+6555A>G, NM_000685.4:c.-48+6555A>G, NC_000003.12:g.148714582A>C, NM_004835.4:c.1-15598A>G, NG_008468.1:g.21712A>T, rs17237176, NC_000003.12:g.148714582=, NC_000003.11:g.148432369A>T +PA166153713 rs2640909 PA33186 PER3 NC_000001.11:7830057 1 0 0 0 0 XP_005263579.1:p.Met1036Thr, XP_011540686.1:p.Met1037Thr, XM_005263527.1:c.2762T>C, NP_001276791.1:p.Met1037Thr, XP_011540687.1:p.Met1036Thr, XM_005263520.1:c.3110T>C, XM_005263521.2:c.3107T>C, NM_001289864.1:c.2150T>C, XP_011540692.1:p.Met1029Thr, XM_005263529.2:c.2585T>C, XP_011540688.1:p.Met1029Thr, XP_011540691.1:p.Met916Thr, XM_005263522.2:c.3107T>C, XM_005263523.1:c.3089T>C, XM_005263528.1:c.2759T>C, XM_005263526.1:c.3032T>C, NG_046850.1:g.50678T>C, XM_005263529.1:c.2585T>C, XM_005263524.1:c.3110T>C, XM_005263521.1:c.3107T>C, XP_005263586.1:p.Met862Thr, XP_005263582.1:p.Met1018Thr, XP_011540690.1:p.Met921Thr, NP_058515.1:p.Met1028=, XM_005263523.2:c.3089T>C, XM_011542390.1:c.3086T>C, 17374481, NP_001276793.1:p.Met717Thr, XM_005263522.1:c.3107T>C, XM_005263525.1:c.3053T>C, rs34042617, NP_058515.1:p.Met1028Thr, XM_005263524.2:c.3110T>C, rs10779690, XM_011542387.1:c.2942T>C, XM_011542388.1:c.2762T>C, NC_000001.11:g.7830057=, XM_011542389.1:c.2747T>C, XP_005263584.1:p.Met921Thr, XP_005263578.1:p.Met1036Thr, XP_005263585.1:p.Met920Thr, rs2640909, XM_005263530.1:c.2138T>C, 2640909, XM_011542385.1:c.3107T>C, 52837510, XP_011540689.1:p.Met981Thr, NP_001276790.1:p.Met1018Thr, NP_001276792.1:p.Met1011Thr, NG_046850.1:g.50678=, XM_011542386.1:c.3086T>C, NM_016831.2:c.3083T>C, NM_001289862.1:c.3110T>C, NC_000001.10:g.7890117=, rs52837510, XP_005263580.1:p.Met1030Thr, NC_000001.10:g.7890117T>C, NC_000001.11:g.7830057T>C, rs17374481, XP_005263587.1:p.Met713Thr, 10779690, 34042617, NM_001289863.1:c.3032T>C, XM_011542384.1:c.3110T>C, XP_005263583.1:p.Met1011Thr, XP_005263577.1:p.Met1037Thr, NM_001289861.1:c.3053T>C, XP_005263581.1:p.Met1037Thr +PA166163571 rs2644592 PA162399233 PEAR1 NC_000001.11:156905972 1 0 0 0 0 NC_000001.11:g.156905972=, 2644592, NC_000001.11:g.156905972G>C, NC_000001.10:g.156875764=, rs2644592, NC_000001.11:g.156905972G>A, NC_000001.10:g.156875764G>A, NC_000001.10:g.156875764G>C +PA166177332 rs2645399 PA28587 GATA4 NC_000008.11:11751660 1 0 0 0 0 NC_000008.11:g.11751660=, NG_008177.2:g.79742=, NC_000008.11:g.11751660T>C, NC_000008.10:g.11609169T>C, NC_000008.11:g.11751660T>G, 56586002, NC_000008.10:g.11609169=, NG_008177.2:g.79742T>G, 111179105, NC_000008.10:g.11609169T>G, NG_008177.2:g.79742T>C, 2645399, 59276863, rs2645399, 61447976 +PA166157578 rs2645400 PA28587 GATA4 NC_000008.11:11751907 2 1 0 0 0 NG_008177.2:g.79989T>G, XM_006716249.2:c.291+1671T>G, 57596991, XM_006716248.1:c.912+1671T>G, NC_000008.10:g.11609416=, 56558867, XM_005272384.1:c.912+1671T>G, XM_005272387.1:c.291+1671T>G, NG_008177.2:g.79989=, XM_005272386.1:c.912+1671T>G, NM_002052.4:c.909+1671T>G, NC_000008.11:g.11751907T>G, NC_000008.10:g.11609416T>G, XM_011543817.1:c.912+1671T>G, XM_005272385.1:c.912+1671T>G, NM_001308093.1:c.912+1671T>G, rs56558867, NM_001308094.1:c.291+1671T>G, rs57596991, NC_000008.11:g.11751907=, XM_005272385.3:c.912+1671T>G, rs2645400, XM_011543818.1:c.912+1671T>G, 2645400 +PA166155590 rs264588 PA142670838 TANC1 NC_000002.12:159079879 1 1 0 0 0 XM_011512053.1:c.115+3351C>A, XM_011512049.1:c.145+3351C>A, XM_011512050.1:c.145+3351C>A, XM_011512046.1:c.145+3351C>A, XM_011512060.1:c.145+3351C>A, XM_006712810.2:c.61+13908C>A, NC_000002.12:g.159079879C>A, NC_000002.11:g.159936391C>T, rs264588, XM_011512047.1:c.145+3351C>A, NC_000002.12:g.159079879C>T, XM_006712814.2:c.91+13908C>A, NC_000002.11:g.159936391C>A, XM_006712812.2:c.61+13908C>A, XM_011512056.1:c.145+3351C>A, XM_005246920.1:c.91+13908C>A, NC_000002.11:g.159936391=, XM_011512055.1:c.61+13908C>A, XM_011512057.1:c.145+3351C>A, 264588, XM_011512048.1:c.133+3351C>A, XM_011512052.1:c.115+3351C>A, NM_033394.2:c.61+13908C>A, XM_005246919.1:c.91+13908C>A, XM_011512051.1:c.115+3351C>A, XM_011512058.1:c.61+13908C>A, XM_005246918.1:c.91+13908C>A, XM_011512054.1:c.145+3351C>A, NC_000002.12:g.159079879=, XM_005246918.3:c.91+13908C>A, NM_001145909.1:c.61+13908C>A +PA166155591 rs264631 PA142670838 TANC1 NC_000002.12:159094353 1 1 0 0 0 XM_011512046.1:c.146-3284C>G, NC_000002.12:g.159094353=, NC_000002.11:g.159950865C>G, 264631, NC_000002.12:g.159094353C>G, XM_011512049.1:c.146-3284C>G, NM_033394.2:c.62-3284C>G, XM_006712812.2:c.62-3284C>G, XM_011512058.1:c.62-3284C>G, XM_011512055.1:c.62-3284C>G, XM_005246920.1:c.92-3284C>G, XM_011512047.1:c.146-3284C>G, XM_011512053.1:c.116-3284C>G, XM_005246919.1:c.92-3284C>G, XM_011512050.1:c.146-3284C>G, XM_011512056.1:c.146-3284C>G, XM_011512048.1:c.134-3284C>G, XM_011512054.1:c.146-3284C>G, XM_005246918.1:c.92-3284C>G, XM_011512057.1:c.146-3284C>G, XM_006712814.2:c.92-3284C>G, XM_005246918.3:c.92-3284C>G, XM_011512051.1:c.116-3284C>G, rs57452108, XM_011512060.1:c.146-3284C>G, NC_000002.11:g.159950865=, XM_011512052.1:c.116-3284C>G, NM_001145909.1:c.62-3284C>G, rs264631, XM_006712810.2:c.62-3284C>G, 57452108 +PA166155592 rs264651 PA142670838 TANC1 NC_000002.12:159072919 1 1 0 0 0 XM_011512054.1:c.92-3556A>G, 264651, NC_000002.12:g.159072919A>G, XM_011512046.1:c.92-3556A>G, XM_011512058.1:c.61+6948A>G, NC_000002.11:g.159929431A>G, XM_011512050.1:c.92-3556A>G, XM_005246920.1:c.91+6948A>G, XM_006712812.2:c.61+6948A>G, NM_001145909.1:c.61+6948A>G, XM_005246918.1:c.91+6948A>G, XM_011512047.1:c.92-3556A>G, XM_011512048.1:c.80-3556A>G, XM_005246918.3:c.91+6948A>G, rs1362938, XM_011512051.1:c.62-3556A>G, XM_005246919.1:c.91+6948A>G, XM_006712810.2:c.61+6948A>G, NM_033394.2:c.61+6948A>G, XM_011512060.1:c.92-3556A>G, NC_000002.11:g.159929431=, 1362938, XM_011512055.1:c.61+6948A>G, XM_011512052.1:c.62-3556A>G, XM_006712814.2:c.91+6948A>G, XM_011512056.1:c.92-3556A>G, NC_000002.12:g.159072919=, XM_011512053.1:c.62-3556A>G, rs264651, XM_011512049.1:c.92-3556A>G, XM_011512057.1:c.92-3556A>G +PA166155593 rs264663 PA142670838 TANC1 NC_000002.12:159053694 1 1 0 0 0 NC_000002.11:g.159910206T>A, NC_000002.11:g.159910206T>C, XM_006712812.2:c.-15-12202T>C, rs16843632, NC_000002.11:g.159910206T>G, rs59538611, 16843632, rs59145644, NC_000002.12:g.159053694T>G, rs264663, NM_033394.2:c.-15-12202T>C, XM_011512052.1:c.-16+10250T>C, XM_011512051.1:c.-15-12202T>C, 59538611, XM_011512055.1:c.-15-12202T>C, 59145644, NM_001145909.1:c.-15-12202T>C, 264663, NC_000002.12:g.159053694=, rs13002747, XM_006712810.2:c.-15-12202T>C, NC_000002.12:g.159053694T>C, NC_000002.12:g.159053694T>A, XM_011512058.1:c.-15-12202T>C, 13002747, XM_011512053.1:c.-15-12202T>C, NC_000002.11:g.159910206=, XM_011512048.1:c.4-12202T>C +PA166157045 rs2647087 NC_000006.12:32713272 1 1 0 0 0 NT_167246.2:g.4132575C>A, NT_167247.1:g.4017591A>C, 116333078, NT_113891.2:g.4126664A=, NT_167249.2:g.4113396A>C, NC_000006.12:g.32713272A=, 112058546, NT_167247.1:g.4017591A=, rs2647087, rs116333078, NT_167245.1:g.3962959C>A, NT_167248.1:g.3913118A=, NT_113891.3:g.4126558A=, rs112058546, 118168432, NT_167246.2:g.4132575C=, NT_167248.1:g.3913118A>C, NT_167246.1:g.4138195C=, NT_167249.2:g.4113396A=, 2647087, NT_167246.1:g.4138195C>A, NT_167247.2:g.4012006A>C, NT_167248.2:g.3907522A>C, NT_167248.2:g.3907522A=, rs118168432, rs17219323, NC_000006.12:g.32713272=, NC_000006.11:g.32681049=, NT_167249.1:g.4112694A>C, NC_000006.11:g.32681049A=, NT_167245.2:g.3957374C=, NT_167249.1:g.4112694A=, NT_113891.3:g.4126558A>C, NT_167247.2:g.4012006A=, 17219323, NT_167245.2:g.3957374C>A, rs7745306, NC_000006.12:g.32713272A>C, NC_000006.11:g.32681049A>C, NT_167245.1:g.3962959C=, NT_113891.2:g.4126664A>C, 7745306 +PA166155929 rs2650972 NC_000020.11:6802627 2 1 0 0 0 rs111195393, NC_000020.11:g.6802627T>C, NC_000020.11:g.6802627=, NC_000020.10:g.6783274=, NC_000020.10:g.6783274T>C, rs2650972, 2650972, 111195393, 59264576, rs59264576 +PA166181164 rs2652510 NC_000005.10:1447745 1 0 0 0 0 rs2652510, NC_000005.10:g.1447745C>G, NG_015885.1:g.2684=, NC_000005.10:g.1447745C>T, 58793203, NC_000005.9:g.1447860C>T, NG_015885.1:g.2684G>A, NC_000005.9:g.1447860=, NC_000005.10:g.1447745=, NC_000005.9:g.1447860C>G, 2652510, NG_015885.1:g.2684G>C +PA166170120 rs2652511 PA311 SLC6A3 NC_000005.10:1446274 2 0 0 0 0 rs2652511, NC_000005.10:g.1446274=, NG_015885.1:g.4155T>C, NC_000005.9:g.1446389=, NG_015885.1:g.4155=, NC_000005.10:g.1446274A>G, 2652511, NC_000005.9:g.1446389A>G +PA166156360 rs2654754 PA27479 DRD3 NC_000003.12:114136949 3 1 0 0 0 NC_000003.12:g.114136949G>A, NM_000796.5:c.723+2551C>T, NG_008842.2:g.67459C>T, NM_001290809.1:c.723+2551C>T, XM_011512511.1:c.723+2551C>T, NC_000003.12:g.114136949=, rs58459708, XM_011512510.1:c.723+2551C>T, NC_000003.11:g.113855796=, XM_005247170.1:c.723+2551C>T, NM_033663.5:c.723+2551C>T, rs56683063, rs2654754, 2654754, rs56611118, XM_005247171.1:c.723+2551C>T, 58459708, XM_011512512.1:c.723+2551C>T, NG_008842.2:g.67459=, NM_001282563.2:c.723+2551C>T, 56683063, NC_000003.11:g.113855796G>A, 56611118 +PA166156722 rs265976 PA147 DRD1 NC_000005.10:175435417 1 1 0 0 0 NC_000005.9:g.174862420G>T, 265976, 56801037, rs56801037, NC_000005.9:g.174862420=, NC_000005.10:g.175435417G>T, 1310291, NC_000005.10:g.175435417=, rs1310291, rs265976 +PA166156723 rs265981 PA147 DRD1 NC_000005.10:175443899 2 0 0 0 0 NC_000005.10:g.175443899=, 265981, NC_000005.10:g.175443899A>T, rs888670, 888670, 1310295, NC_000005.9:g.174870902A>T, rs1310295, NC_000005.9:g.174870902A>G, rs265981, NC_000005.9:g.174870902=, NC_000005.10:g.175443899A>G, NG_011802.1:g.5262T>G, NC_000005.10:g.175443899A>C, NG_011802.1:g.5262T>C, NM_000794.3:c.-684T>C, NG_011802.1:g.5262=, NC_000005.9:g.174870902A>C, NG_011802.1:g.5262T>A +PA166154484 rs2660 PA31875 OAS1 NC_000012.12:112919637 1 0 0 0 0 rs3168660, 56662468, NG_011530.2:g.17704G>A, NC_000012.11:g.113357442G>T, rs56511560, NC_000012.12:g.112919637G>A, rs2660, NG_011530.2:g.17704G>T, rs17834423, 3168660, XM_011538414.1:c.1038+1937G>A, NP_001027581.1:p.Gly397Arg, XP_011536715.1:p.Gly389Arg, NC_000012.11:g.113357442=, XM_011538413.1:c.1165G>A, 17834423, XR_944557.1:n.1330G>A, 58192814, NM_001320151.1:c.1038+1937G>A, 2660, NM_016816.3:c.*84G>A, NG_011530.2:g.17704=, NP_001027581.1:p.Gly397Ter, rs58192814, rs56662468, 56511560, NC_000012.11:g.113357442G>A, NM_001032409.2:c.1189G>A, NC_000012.12:g.112919637G>T, NC_000012.12:g.112919637=, NP_001027581.1:p.Gly397=, XM_006719434.1:c.*924G>A +PA166154552 rs2660845 PA24345 LTA4H NC_000012.12:96044775 1 1 0 0 0 NC_000012.11:g.96438553=, NC_000012.12:g.96044775G>A, NC_000012.11:g.96438553G>A, NC_000012.12:g.96044775G>C, NM_001256644.1:c.-1400C>T, rs57157252, NC_000012.11:g.96438553G>C, rs2660845, 2660845, 57157252, NM_001256643.1:c.-1400C>T, NC_000012.12:g.96044775= +PA166153714 rs2661280 PA34376 RGS5 NC_000001.11:163143585 1 0 0 0 0 17361582, NC_000001.11:g.163143585=, NG_027731.2:g.183207C>G, rs57479307, NG_027731.2:g.183207=, NM_001195303.2:c.*3757C>G, 2661280, NC_000001.10:g.163113375G>T, rs2661280, NC_000001.10:g.163113375G>C, NG_027731.2:g.183207C>A, rs56558782, NM_003617.3:c.*3757C>G, NC_000001.11:g.163143585G>T, rs17361582, rs60251204, NM_001254749.1:c.*3757C>G, 57479307, NM_001254748.1:c.*3757C>G, 60251204, NC_000001.10:g.163113375=, NC_000001.11:g.163143585G>C, 56558782 +PA166153715 rs2661319 PA34375 RGS4 NC_000001.11:163069987 2 1 0 0 0 2661319, NG_023312.1:g.6382=, NG_023312.1:g.6382T>C, rs2661319, NM_001102445.2:c.335+459T>C, NM_001113381.1:c.44+459T>C, NC_000001.10:g.163039777T>C, NM_001113380.1:c.-2167T>C, NC_000001.11:g.163069987=, NC_000001.10:g.163039777=, NM_005613.5:c.44+459T>C, NC_000001.11:g.163069987T>C +PA166156282 rs266729 PA134933118 ADIPOQ NC_000003.12:186841685 3 0 0 0 0 NC_000003.11:g.186559474C>T, NG_044949.1:g.1776C>T, NG_044949.1:g.1776=, NG_021140.1:g.4012C>G, NG_021140.1:g.4012=, 266729, NC_000003.12:g.186841685C>G, NC_000003.11:g.186559474C>A, XM_011513324.1:c.-1189C>G, NC_000003.12:g.186841685C>A, NG_021140.1:g.4012C>T, NM_001177800.1:c.-1124C>G, NG_044949.1:g.1776C>G, NC_000003.11:g.186559474C>G, NM_004797.3:c.-1073C>G, NC_000003.12:g.186841685=, rs266729, NC_000003.11:g.186559474=, NC_000003.12:g.186841685C>T, NG_021140.1:g.4012C>A, NG_044949.1:g.1776C>A +PA166157579 rs2669429 PA146 DPYS NC_000008.11:104451462 4 1 0 0 0 XM_005250818.2:c.265-58T>C, NG_008840.1:g.20588T>C, NG_008840.1:g.20588T>A, XM_005250818.1:c.265-58T>C, XM_011516903.1:c.265-58T>C, rs17246278, NC_000008.11:g.104451462=, NC_000008.11:g.104451462A>T, NG_008840.2:g.20588=, 17246278, NC_000008.10:g.105463690A>G, rs2669429, 60334774, 2669429, NC_000008.10:g.105463690=, XM_011516904.1:c.265-58T>C, NG_008840.1:g.20588=, 3750186, NC_000008.10:g.105463690A>T, rs60334774, NG_008840.2:g.20588T>A, NC_000008.11:g.104451462A>G, XM_006716518.2:c.265-3959T>C, rs3750186, NG_008840.2:g.20588T>C, rs199469604, XM_005250819.1:c.265-58T>C, 199469604, NM_001385.2:c.265-58T>C +PA166210005 rs2673136 NC_000002.12:226299937 1 1 0 0 0 2673136, NC_000002.11:g.227164653=, NC_000002.11:g.227164653G>A, 58784745, NC_000002.12:g.226299937=, 7597974, NC_000002.12:g.226299937G>A, rs2673136 +PA166159181 rs267606617 PA31259,PA31274 MT-ND1,MT-RNR1 NC_012920.1:1555 73 8 6 1 7 NC_012920.1:m.1555A>G, 267606617, NC_012920.1:m.1555=, rs267606617 +PA166158908 rs267606618 PA31274 MT-RNR1 NC_012920.1:1095 7 4 1 1 0 NC_012920.1:m.1095=, 267606618, NC_012920.1:m.1095T>C, rs267606618 +PA166158909 rs267606619 PA31259,PA31274 MT-ND1,MT-RNR1 NC_012920.1:1494 17 6 2 1 0 267606619, NC_012920.1:m.1494C>T, rs267606619, NC_012920.1:m.1494= +PA166157537 rs267606723 PA109 CFTR NC_000007.14:117642451 2 1 1 1 5 NC_000007.13:g.117282505G>A, rs267606723, XM_011515753.1:c.3488G>T, XM_011515754.1:c.3488G>T, XP_011514054.1:p.Gly1274Val, NP_000483.3:p.Gly1244=, XP_011514053.1:p.Gly1274Glu, XM_011515753.1:c.3488G>A, XM_011515754.1:c.3488G>A, 267606723, NC_000007.13:g.117282505G>T, NC_000007.14:g.117642451G>T, XP_011514053.1:p.Gly1274Val, XP_011514054.1:p.Gly1274Glu, NM_000492.3:c.3731G>A, NC_000007.13:g.117282505=, XM_011515752.1:c.3821G>T, XP_011514055.1:p.Gly1163Glu, XM_011515751.1:c.3821G>A, NC_000007.14:g.117642451G>A, NG_016465.4:g.181668G>T, XP_011514056.1:p.Gly1163Val, NP_000483.3:p.Gly1244Val, NG_016465.4:g.181668G>A, XM_011515752.1:c.3821G>A, NC_000007.14:g.117642451=, NG_016465.3:g.181668G>A, XM_011515751.1:c.3821G>T, NG_016465.4:g.181668=, NM_000492.3:c.3731G>T, NP_000483.3:p.Gly1244Glu, XP_011514055.1:p.Gly1163Val, XP_011514056.1:p.Gly1163Glu +PA166169615 rs267608276 PA128 CYP2D6 NC_000022.11:42129827 1 0 0 0 0 NC_000022.11:g.42129827=, NP_000097.3:p.Arg88Pro, NG_008376.4:g.5984G>C, NC_000022.11:g.42129827C>T, NC_000022.10:g.42525829=, rs267608276, NC_000022.10:g.42525829C>T, NP_000097.3:p.Arg88=, NG_008376.3:g.5165=, NC_000022.11:g.42129827C>G, NG_008376.4:g.5984=, NC_000022.10:g.42525829C>G, NG_008376.3:g.5165G>A, NP_000097.3:p.Arg88His, NG_008376.4:g.5984G>A, 267608276, NG_008376.3:g.5165G>C +PA166156225 rs267608279 PA128 CYP2D6 NC_000022.11:42127963 1 1 1 0 0 XM_011529972.1:c.843+211delC, XM_011547750.1:c.720delC, XP_011528272.1:p.Ser237Argfs, NC_000022.11:g.42127963del, XP_011545843.1:p.Ser188Argfs, XP_011528270.1:p.Ser288Argfs, XP_011547121.1:p.Ser188Argfs, XP_011528271.1:p.Ser240Argfs, XM_011548819.1:c.564delC, NG_008376.3:g.7029del, NC_000022.10:g.42523965delG, rs267608279, XP_011528268.1:p.Ser288Argfs, XM_011547751.1:c.648delC, NP_001020332.2:p.Ser237Argfs, XM_005278354.1:c.564delC, XP_005278411.1:p.Ser188Argfs, XM_011529969.1:c.720delC, NC_000022.10:g.42523965del, XM_011547756.1:c.-2072delG, XM_011529970.1:c.711delC, NT_187682.1:g.50304delG, XP_011546052.1:p.Ser240Argfs, NG_008376.4:g.7848del, XM_011529971.1:c.720delC, XM_011529966.1:c.864delC, XM_011529968.1:c.864delC, XP_011528273.1:p.Ser240Argfs, NG_008376.3:g.7029=, NP_000097.3:p.Ser288Argfs, XP_011546053.1:p.Ser216Argfs, NG_008376.4:g.7848=, NP_000097.3:p.Ser288=, XM_011547541.1:c.564delC, XP_005278410.1:p.Ser240Argfs, XM_011529967.1:c.864delC, XR_430455.2:n.-1908delG, NC_000022.11:g.42127963=, NM_001025161.2:c.711delC, NC_000022.11:g.42127963delG, NG_008376.3:g.7029delC, NW_009646208.1:g.13529delG, XR_952745.1:n.2000+211delC, 267608279, XM_005278353.1:c.720delC, NP_000097.3:p.Ser288fs, NW_004504305.1:g.50290delG, XM_005278354.3:c.564delC, NM_000106.5:c.864delC, XP_011528269.1:p.Ser288Argfs, NC_000022.10:g.42523965= +PA166156232 rs267608295 PA128 CYP2D6 NC_000022.11:42127593 2 1 1 0 0 NT_187682.1:g.49934G>A, XP_011528272.1:p.Arg292Trp, XR_952745.1:n.2042C>G, NM_000106.5:c.1027C>G, NG_008376.3:g.7399C>A, NT_187682.1:g.49934G>C, XP_011528272.1:p.Arg292Gly, rs376436494, XM_011529971.1:c.883C>T, XM_005278353.1:c.883C>G, XM_005278353.1:c.883C>T, NM_000106.5:c.1027C>T, XR_952745.1:n.2042C>T, XP_011546053.1:p.Arg271Gly, XM_011529969.1:c.883C>T, XM_011547751.1:c.811C>T, XP_011546052.1:p.Arg295Trp, NC_000022.11:g.42127593G>T, NG_008376.3:g.7399C>G, XP_011546052.1:p.Arg295Gly, XM_011547750.1:c.883C>G, XP_011546053.1:p.Arg271Trp, 376436494, NP_000097.3:p.Arg343Gly, XM_011529968.1:c.1027C>T, NG_008376.3:g.7399=, NP_000097.3:p.Arg343Trp, XM_011529967.1:c.1027C>T, XM_011529966.1:c.1027C>T, XP_005278411.1:p.Arg243Trp, XP_005278411.1:p.Arg243Gly, NC_000022.11:g.42127593G>A, NC_000022.11:g.42127593G>C, XM_011529972.1:c.*12C>T, NC_000022.11:g.42127593=, XM_011547750.1:c.883C>T, XP_005278410.1:p.Arg295Trp, XM_011529968.1:c.1027C>G, XM_011529970.1:c.874C>G, XP_005278410.1:p.Arg295Gly, XP_011528271.1:p.Arg295Trp, NC_000022.10:g.42523595=, XM_011529966.1:c.1027C>G, 267608295, XM_011529972.1:c.*12C>G, XM_011529967.1:c.1027C>G, XM_005278354.3:c.727C>T, NC_000022.10:g.42523595G>A, XP_011528270.1:p.Arg343Trp, XM_011529970.1:c.874C>T, NC_000022.10:g.42523595G>C, NM_001025161.2:c.874C>T, XP_011528270.1:p.Arg343Gly, XP_011528271.1:p.Arg295Gly, NP_001020332.2:p.Arg292Gly, NP_001020332.2:p.Arg292Trp, NM_001025161.2:c.874C>G, XM_005278354.3:c.727C>G, NW_009646208.1:g.13159G>A, NW_009646208.1:g.13159G>C, XM_011547751.1:c.811C>G, XP_011528268.1:p.Arg343Trp, NP_000097.3:p.Arg343=, XM_011529969.1:c.883C>G, NG_008376.4:g.8218C>G, XP_011528268.1:p.Arg343Gly, XM_005278354.1:c.727C>T, NG_008376.3:g.7399C>T, NW_004504305.1:g.49920G>C, NW_004504305.1:g.49920G>A, rs267608295, XM_011547541.1:c.*133C>T, NG_008376.4:g.8218C>T, XM_011548819.1:c.*133C>G, XM_011529971.1:c.883C>G, NC_000022.10:g.42523595G>T, NG_008376.4:g.8218=, XM_005278354.1:c.727C>G, XP_011528269.1:p.Arg343Gly, NG_008376.4:g.8218C>A, XP_011528269.1:p.Arg343Trp, XM_011547541.1:c.*133C>G, XP_011528273.1:p.Arg295Gly, XM_011548819.1:c.*133C>T, XP_011528273.1:p.Arg295Trp +PA166156233 rs267608297 PA128 CYP2D6 NC_000022.11:42128235 4 2 2 0 0 XP_011528274.1:p.Thr261Ile, XP_011546052.1:p.Thr213Ile, XM_011529970.1:c.629C>T, NM_001025161.2:c.629C>T, XR_430455.2:n.-1636G>A, XP_005278411.1:p.Thr161Ile, NP_000097.3:p.Thr261Ile, XM_011547541.1:c.482C>T, NC_000022.11:g.42128235=, NG_008376.4:g.7576=, XM_005278353.1:c.638C>T, XM_005278354.1:c.482C>T, NM_000106.5:c.782C>T, XP_011528271.1:p.Thr213Ile, NW_004504305.1:g.50562G>A, XM_011547756.1:c.-1800G>A, XP_011528269.1:p.Thr261Ile, XP_011547121.1:p.Thr161Ile, NP_001020332.2:p.Thr210Ile, XM_011529968.1:c.782C>T, NC_000022.11:g.42128235G>A, XR_952745.1:n.1939C>T, NW_009646208.1:g.13801G>A, XM_011547750.1:c.638C>T, XP_011546053.1:p.Thr189Ile, NG_008376.3:g.6757C>T, NP_000097.3:p.Thr261=, XM_011548819.1:c.482C>T, XM_011529972.1:c.782C>T, XP_011545843.1:p.Thr161Ile, XM_005278354.3:c.482C>T, NG_008376.3:g.6757=, XP_011528272.1:p.Thr210Ile, rs267608297, XM_011529966.1:c.782C>T, XP_011528273.1:p.Thr213Ile, NC_000022.10:g.42524237G>A, NC_000022.10:g.42524237=, NT_187682.1:g.50576G>A, XM_011529969.1:c.638C>T, XP_011528268.1:p.Thr261Ile, XM_011529967.1:c.782C>T, XP_005278410.1:p.Thr213Ile, XM_011547751.1:c.566C>T, XP_011528270.1:p.Thr261Ile, XM_011529971.1:c.638C>T, 267608297, NG_008376.4:g.7576C>T +PA166156236 rs267608302 PA128 CYP2D6 NC_000022.11:42129071 3 2 2 0 0 rs267608302, XM_011529972.1:c.467A>C, XM_011529966.1:c.467A>C, XM_011529971.1:c.324A>C, XP_011546053.1:p.Glu84Ala, NC_000022.11:g.42129071T>G, NT_187682.1:g.51412T>G, XP_011528273.1:p.Gly108=, NC_000022.11:g.42129071=, XP_011547121.1:p.Gly56=, NG_008376.3:g.5921A>C, XM_005278354.1:c.168A>C, XP_011528268.1:p.Glu156Ala, XP_011528270.1:p.Glu156Ala, XP_011528271.1:p.Gly108=, XR_952745.1:n.1624A>C, 267608302, NC_000022.11:g.42129071T>A, XR_430455.2:n.-800T>G, XM_011529969.1:c.324A>C, NP_000097.3:p.Glu156=, XP_005278411.1:p.Gly56=, NW_004504305.1:g.51398T>G, XM_005278353.1:c.363-128A>C, XM_011547541.1:c.168A>C, NM_000106.5:c.467A>C, NM_001025161.2:c.353-127A>C, NW_009646208.1:g.14637T>G, XP_011545843.1:p.Gly56=, XM_005278354.3:c.168A>C, XM_011529967.1:c.467A>C, XM_011547751.1:c.251A>C, XP_011528274.1:p.Glu156Ala, NP_000097.3:p.Glu156Ala, XP_011528269.1:p.Glu156Ala, XP_011546052.1:p.Gly108=, XM_011548819.1:c.168A>C, XM_011547756.1:c.-964T>G, NC_000022.10:g.42525073=, NG_008376.3:g.5921=, XM_011529968.1:c.467A>C, NG_008376.4:g.6740=, XM_011547750.1:c.324A>C, NC_000022.10:g.42525073T>G, XM_011529970.1:c.353-127A>C, NG_008376.4:g.6740A>C +PA166156240 rs267608309 PA128 CYP2D6 NC_000022.11:42129821 3 1 1 0 0 XM_011529972.1:c.269C>T, XM_011529971.1:c.126C>T, XM_005278354.1:c.-583C>T, NG_008376.3:g.5171=, XP_011528272.1:p.Ala90Val, XM_005278354.3:c.-583C>T, NC_000022.11:g.42129821G>A, XM_011547756.1:c.-214G>A, XP_011528274.1:p.Ala90Val, 267608309, XP_005278410.1:p.Ala90Val, NT_187682.1:g.52162G>A, XM_011548819.1:c.-583C>T, XM_011529966.1:c.269C>T, NG_008376.3:g.5171C>T, XM_011529969.1:c.126C>T, NP_000097.3:p.Ala90=, XR_952745.1:n.1426C>T, XM_011547541.1:c.-583C>T, NP_000097.3:p.Ala90Val, XP_011528269.1:p.Ala90Val, NC_000022.11:g.42129821=, rs267608309, XM_011547751.1:c.-243C>T, NG_008376.4:g.5990C>T, XP_011528270.1:p.Ala90Val, XP_011528273.1:p.Gly42=, XM_011529967.1:c.269C>T, XM_005278353.1:c.269C>T, XM_011547750.1:c.126C>T, XP_011528268.1:p.Ala90Val, XR_430455.2:n.-50G>A, NM_001025161.2:c.269C>T, XM_011529968.1:c.269C>T, XM_011529970.1:c.269C>T, NP_001020332.2:p.Ala90Val, XP_011528271.1:p.Gly42=, NW_004504305.1:g.52148G>A, XP_011546052.1:p.Gly42=, NM_000106.5:c.269C>T, NG_008376.4:g.5990=, NW_009646208.1:g.15387G>A, NC_000022.10:g.42525823G>A, NC_000022.10:g.42525823= +PA166156241 rs267608310 PA128 CYP2D6 NC_000022.11:42129836 2 1 1 0 0 NC_000022.11:g.42129836=, XM_011548819.1:c.-598C>T, XP_011528273.1:p.Gly37=, NC_000022.11:g.42129836G>A, XM_011547756.1:c.-199G>A, XR_430455.2:n.-35G>A, XM_005278354.3:c.-598C>T, NG_008376.4:g.5975=, XM_005278354.1:c.-598C>T, XM_011529972.1:c.254C>T, XM_011529971.1:c.111C>T, XP_011528272.1:p.Ala85Val, XP_011528271.1:p.Gly37=, NG_008376.4:g.5975C>T, NM_001025161.2:c.254C>T, NT_187682.1:g.52177G>A, XM_011529966.1:c.254C>T, NG_008376.3:g.5156C>T, XP_011528274.1:p.Ala85Val, NC_000022.10:g.42525838G>A, NC_000022.10:g.42525838=, XR_952745.1:n.1411C>T, NM_000106.5:c.254C>T, XM_011529969.1:c.111C>T, XP_011528270.1:p.Ala85Val, XM_011547751.1:c.-258C>T, rs267608310, XM_011529967.1:c.254C>T, NP_000097.3:p.Ala85Val, XM_011547541.1:c.-598C>T, NG_008376.3:g.5156=, XM_005278353.1:c.254C>T, XP_011546052.1:p.Gly37=, XP_011528269.1:p.Ala85Val, XP_011528268.1:p.Ala85Val, NP_000097.3:p.Ala85=, NW_004504305.1:g.52163G>A, XM_011529968.1:c.254C>T, XM_011529970.1:c.254C>T, XM_011547750.1:c.111C>T, NP_001020332.2:p.Ala85Val, NW_009646208.1:g.15402G>A, XP_005278410.1:p.Ala85Val, 267608310 +PA166156243 rs267608313 PA128 CYP2D6 NC_000022.11:42130719 4 2 2 0 0 NT_187682.1:g.53060G>A, XM_005278354.1:c.-1481C>T, NG_008376.4:g.5092=, XM_011548819.1:c.-1481C>T, NG_008376.3:g.4273C>T, XM_005278353.1:c.73C>T, XM_011529966.1:c.73C>T, XM_011529969.1:c.37+578C>T, XP_011528269.1:p.Arg25Trp, NM_001025161.2:c.73C>T, XM_011529972.1:c.73C>T, XP_011528268.1:p.Arg25Trp, NP_001020332.2:p.Arg25Trp, NM_000106.5:c.73C>T, XP_005278410.1:p.Arg25Trp, NG_055460.1:g.4=, NC_000022.10:g.42526721G>A, NG_055460.1:g.4G>A, NC_000022.11:g.42130719G>A, NG_008376.3:g.4273=, XM_011529970.1:c.73C>T, XM_011529971.1:c.37+578C>T, NW_004504305.1:g.53046G>A, XM_011547751.1:c.-1141C>T, rs267608313, NC_000022.11:g.42130719=, NW_009646208.1:g.16285G>A, XP_011528270.1:p.Arg25Trp, XM_011529967.1:c.73C>T, XR_952539.1:n.-1435G>A, XM_005278354.3:c.-1481C>T, XM_011547756.1:c.42+496G>A, NP_000097.3:p.Arg25Trp, NC_000022.10:g.42526721=, NG_008376.4:g.5092C>T, NP_000097.3:p.Arg25=, XM_011547750.1:c.37+578C>T, XR_952537.1:n.-1724G>A, 267608313, XP_011528274.1:p.Arg25Trp, XR_430455.2:n.328+31G>A, XR_952538.1:n.-1724G>A, XM_011547541.1:c.-1481C>T, XM_011529968.1:c.73C>T, XR_952536.1:n.-1724G>A, XR_952745.1:n.1230C>T, XP_011528272.1:p.Arg25Trp +PA166156244 rs267608319 PA128 CYP2D6 NC_000022.11:42126749 5 3 3 0 0 NG_008376.3:g.8243G>A, XM_005278353.1:c.1175G>A, NC_000022.10:g.42522751C>T, XM_011529969.1:c.1175G>A, NW_009646208.1:g.12315C>T, XR_952745.1:n.2334G>A, NG_008376.4:g.9062=, NT_187682.1:g.49090C>T, NM_000106.5:c.1319G>A, XM_011529970.1:c.1166G>A, XP_011528273.1:p.Arg392His, XM_011547751.1:c.1103G>A, NM_001025161.2:c.1166G>A, XP_011528269.1:p.Arg440His, XP_011528271.1:p.Arg392His, XP_005278411.1:p.Arg340His, NG_008376.3:g.8243=, XP_011546053.1:p.Arg368His, XP_005278410.1:p.Arg392His, rs267608319, XM_011529966.1:c.1319G>A, NP_000097.3:p.Arg440=, XM_011529967.1:c.1319G>A, XM_005278354.1:c.1019G>A, NC_000022.11:g.42126749C>T, 267608319, XM_011529968.1:c.1319G>A, NP_001020332.2:p.Arg389His, NG_008376.4:g.9062G>A, NC_000022.11:g.42126749=, XP_011528270.1:p.Arg440His, XP_011528272.1:p.Arg389His, NC_000022.10:g.42522751=, NP_000097.3:p.Arg440His, XP_011528268.1:p.Arg440His, NW_004504305.1:g.49076C>T, XP_011546052.1:p.Arg392His, XM_005278354.3:c.1019G>A, XM_011529971.1:c.1175G>A, XM_011547750.1:c.1175G>A +PA166156361 rs2677760 PA33308 PIK3CA NC_000003.12:179185476 3 0 0 0 0 XM_011512894.1:c.-76-13274C>T, NC_000003.11:g.178903264C>T, rs17565451, NG_012113.2:g.41954=, NM_006218.2:c.-76-13274C>T, rs61095770, 61095770, XM_006713658.2:c.-76-13274C>T, NG_012113.2:g.41954C>T, 17565451, rs2677760, NC_000003.12:g.179185476=, NC_000003.11:g.178903264=, 2677760, NC_000003.12:g.179185476C>T +PA166269841 rs2682099 PA29441 HPX NC_000011.10:6440047 1 0 0 0 0 NC_000011.9:g.6461277T>C, NC_000011.10:g.6440047T>C, NC_000011.9:g.6461277T>A, NC_000011.10:g.6440047T>A, rs2682099, 2682099, NC_000011.10:g.6440047=, NC_000011.9:g.6461277= +PA166180148 rs268214 PA25084,PA164723006 ATF2,MIR933 NC_000002.12:175168487 2 0 0 0 0 NG_047045.1:g.4720=, 268214, NC_000002.12:g.175168487=, NC_000002.11:g.176033215C>A, NG_047045.1:g.4720G>T, NC_000002.11:g.176033215C>T, NG_047045.1:g.4720G>A, NC_000002.12:g.175168487C>T, 58298002, NC_000002.12:g.175168487C>A, NG_047045.1:g.4720G>C, NC_000002.11:g.176033215=, rs268214, NC_000002.11:g.176033215C>G, NC_000002.12:g.175168487C>G +PA166154553 rs2682818 PA134881936,PA164722914 LIN7A,MIR618 NC_000012.12:80935757 1 0 0 0 0 NR_030349.1:n.77T>G, NM_004664.2:c.82+1884T>G, NC_000012.11:g.81329536A>C, 2682818, rs2682818, NC_000012.12:g.80935757A>T, XM_005269212.1:c.82+1884T>G, NC_000012.11:g.81329536A>T, NG_050580.1:g.7167T>A, XM_011538928.1:c.82+1884T>G, XM_011539062.1:c.-779A>C, NG_050580.1:g.7167T>G, NC_000012.11:g.81329536=, NC_000012.12:g.80935757=, NC_000012.12:g.80935757A>C, NG_050580.1:g.7167= +PA166154554 rs2683511 PA36042 SP1 NC_000012.12:53410706 2 1 0 0 0 NM_003109.1:c.2024-221C>T, NC_000012.12:g.53410706=, NM_138473.2:c.2045-221C>T, NC_000012.11:g.53804490C>T, NM_001251825.1:c.1901-221C>T, XM_011538696.1:c.2024-221C>T, NC_000012.11:g.53804490=, NC_000012.12:g.53410706C>T, NG_030361.1:g.35512C>T, 2683511, NG_030361.1:g.35512=, rs2683511 +PA166157366 rs2687116 PA130 CYP3A4 NC_000007.14:99768320 2 0 0 0 0 NC_000007.13:g.99365943=, rs17161901, NC_000007.13:g.99365943C>T, XM_011515842.1:c.670+34G>T, 17161901, NC_000007.14:g.99768320C>G, NC_000007.13:g.99365943C>A, XM_011515841.1:c.670+34G>T, rs59381366, NC_000007.13:g.99365943C>G, NM_001202855.2:c.670+34G>T, NC_000007.14:g.99768320=, NM_017460.5:c.670+34G>T, NG_008421.1:g.20866G>C, NC_000007.14:g.99768320C>A, NG_008421.1:g.20866G>A, NG_008421.1:g.20866G>T, NC_000007.14:g.99768320C>T, NG_008421.1:g.20866=, rs2687116, 2687116, 59381366 +PA166203413 rs2695121 PA31750 NR1H2 NC_000019.10:50377484 2 1 0 0 0 NC_000019.9:g.50880741T>C, 60170358, NC_000019.9:g.50880741T>A, NC_000019.9:g.50880741=, rs2695121, NC_000019.10:g.50377484=, NC_000019.10:g.50377484T>G, 2695121, NC_000019.10:g.50377484T>C, NC_000019.9:g.50880741T>G, NC_000019.10:g.50377484T>A +PA166156362 rs2699887 PA33308 PIK3CA NC_000003.12:179148620 1 1 0 0 0 NC_000003.11:g.178866408=, NG_012113.2:g.5098=, NC_000003.12:g.179148620C>T, NG_012113.2:g.5098C>T, XM_006713658.2:c.-77+401C>T, NC_000003.12:g.179148620=, 2699887, rs2699887, NC_000003.11:g.178866408C>G, XR_241620.1:n.-643G>A, NG_012113.2:g.5098C>G, NM_006218.2:c.-77+17C>T, NC_000003.12:g.179148620C>G, NC_000003.11:g.178866408C>T, NR_125401.1:n.-647G>A, XM_011512894.1:c.-1173C>T +PA166156363 rs2699905 PA33308 PIK3CA NC_000003.12:179166549 2 0 0 0 0 2699905, NG_012113.2:g.23027=, rs2699905, NC_000003.11:g.178884337C>T, XM_011512894.1:c.-77+16833C>T, NC_000003.12:g.179166549C>G, XM_006713658.2:c.-77+18330C>T, rs61446245, NG_012113.2:g.23027C>G, 386572162, NM_006218.2:c.-77+17946C>T, NC_000003.11:g.178884337C>G, rs386572162, NC_000003.12:g.179166549C>T, 61446245, NC_000003.12:g.179166549=, NG_012113.2:g.23027C>T, NC_000003.11:g.178884337= +PA166160151 rs2701528 PA36196 STIP1 NC_000011.10:64189598 1 0 0 0 0 NC_000011.10:g.64189598A>G, NC_000011.9:g.63957070=, 2701528, NC_000011.10:g.64189598=, rs2701528, NC_000011.9:g.63957070A>G +PA166170127 rs27048 PA311 SLC6A3 NC_000005.10:1412530 1 0 0 0 0 NC_000005.10:g.1412530C>G, NG_015885.1:g.37899=, NG_015885.1:g.37899G>C, NC_000005.9:g.1412645C>G, 61076871, NG_015885.1:g.37899G>A, NC_000005.9:g.1412645=, NG_015885.1:g.37899G>T, NC_000005.9:g.1412645C>T, NC_000005.10:g.1412530=, NC_000005.10:g.1412530C>T, rs27048, 27048, NC_000005.10:g.1412530C>A, NC_000005.9:g.1412645C>A +PA166156714 rs27072 PA311 SLC6A3 NC_000005.10:1394407 6 0 0 0 0 NC_000005.10:g.1394407C>T, NG_015885.1:g.56022G>A, 57833746, NT_187547.1:g.119602G>A, NC_000005.9:g.1394522C>T, rs386572356, NC_000005.9:g.1394522C>A, NM_001044.4:c.*328G>A, 386572356, rs57833746, NC_000005.10:g.1394407=, rs27072, NC_000005.9:g.1394522=, 27072, NC_000005.10:g.1394407C>A, NG_015885.1:g.56022=, NG_015885.1:g.56022G>T +PA166184624 rs2708092 NC_000012.12:121088083 1 0 0 0 0 NC_000012.11:g.121525886=, 57199059, NC_000012.11:g.121525886G>C, rs2708092, 2708092, NC_000012.12:g.121088083G>C, NC_000012.12:g.121088083G>A, NC_000012.12:g.121088083=, NC_000012.11:g.121525886G>A +PA166154381 rs2712807 PA35845 SLCO2B1 NC_000011.10:75150836 1 0 0 0 0 NC_000011.10:g.75150836=, rs2712807, NM_001145212.2:c.-546G>A, 2712807, NC_000011.10:g.75150836G>C, NG_027921.1:g.4850G>C, rs3814713, NG_027921.1:g.4850G>A, 3814713, 61005754, NC_000011.9:g.74861881G>A, NC_000011.9:g.74861881G>C, NC_000011.9:g.74861881=, rs61005754, NC_000011.10:g.75150836G>A, NG_027921.1:g.4850=, NM_007256.4:c.-546G>A, XM_005273732.1:c.-625G>A +PA166155286 rs2717162 PA28545 GALR1 NC_000018.10:77256371 5 2 0 0 0 57387914, rs57387914, NC_000018.10:g.77256371T>G, NC_000018.9:g.74968327=, NG_009223.1:g.11320T>G, NC_000018.10:g.77256371T>C, NC_000018.10:g.77256371=, NG_009223.1:g.11320T>C, NM_001480.3:c.732+148T>C, NC_000018.9:g.74968327T>G, 2717162, NC_000018.9:g.74968327T>C, rs2717162, NG_009223.1:g.11320= +PA166159115 rs271828 PA264 PDE4C NC_000019.10:18231667 1 0 0 0 0 rs271828, 59516995, NC_000019.9:g.18342477=, 271828, NC_000019.10:g.18231667C>A, NG_029629.1:g.21534G>A, NC_000019.10:g.18231667C>T, NG_029629.1:g.21534=, NC_000019.9:g.18342477C>A, NC_000019.10:g.18231667=, NC_000019.9:g.18342477C>T, NG_029629.1:g.21534G>T +PA166156564 rs2720376 PA26087 CASP3 NC_000004.12:184633146 1 0 0 0 0 58845854, NC_000004.11:g.185554300C>A, rs17586243, NC_000004.12:g.184633146=, 2720376, rs2720376, XM_011532301.1:c.179-750G>A, 17586243, NC_000004.12:g.184633146C>A, rs58845854, NM_032991.2:c.179-750G>A, NC_000004.11:g.185554300C>T, XM_005263266.1:c.179-750G>A, NM_004346.3:c.179-750G>A, NC_000004.11:g.185554300=, NC_000004.12:g.184633146C>T +PA166223341 rs2724635 PA27909 ETV6 NC_000012.12:11747039 1 0 0 0 0 NG_011443.1:g.102186G>A, NG_011443.1:g.102186=, 386572666, 59730554, NC_000012.11:g.11899973G>A, NC_000012.11:g.11899973=, 2724635, rs2724635, 56558677, NC_000012.12:g.11747039=, 17745980, NC_000012.12:g.11747039G>A +PA166182339 rs2725215 PA33343 PKD2 NC_000004.12:88040419 1 1 0 0 0 rs2725215, 386572682, NC_000004.12:g.88040419=, 52795729, 2725215, NG_008604.1:g.37752C>T, NC_000004.11:g.88961571=, NC_000004.11:g.88961571C>T, 61310421, NC_000004.12:g.88040419C>T, NG_008604.1:g.37752= +PA166156565 rs2725252 PA390 ABCG2 NC_000004.12:88140758 4 1 0 0 0 NM_001257386.1:c.-19-744G>T, XM_005263356.2:c.-19-744G>T, NC_000004.12:g.88140758=, NC_000004.11:g.89061910C>A, XM_005263355.2:c.-19-744G>T, NC_000004.11:g.89061910=, rs2725252, rs386572685, NC_000004.12:g.88140758C>A, XM_005263355.1:c.-19-744G>T, 2725252, NM_004827.2:c.-19-744G>T, NG_032067.2:g.95565G>A, NG_032067.2:g.95565=, NG_032067.2:g.95565G>T, XM_005263354.2:c.-19-744G>T, XM_011532420.1:c.-19-744G>T, 386572685, XM_005263354.1:c.-19-744G>T, NC_000004.11:g.89061910C>T, XM_005263356.1:c.-19-744G>T, NC_000004.12:g.88140758C>T +PA166156566 rs2725256 PA390 ABCG2 NC_000004.12:88129846 1 0 0 0 0 NG_032067.2:g.106477T>C, XM_005263354.1:c.531+1215T>C, 2725256, NC_000004.11:g.89050998A>G, NC_000004.12:g.88129846A>G, rs2725256, NM_001257386.1:c.531+1215T>C, XM_005263355.2:c.531+1215T>C, XM_011532420.1:c.531+1215T>C, rs386572687, 56882964, XM_005263354.2:c.531+1215T>C, NC_000004.11:g.89050998=, NC_000004.12:g.88129846=, NM_004827.2:c.531+1215T>C, 386572687, XM_005263356.1:c.531+1215T>C, NG_032067.2:g.106477=, rs56882964, XM_005263355.1:c.531+1215T>C, XM_005263356.2:c.531+1215T>C +PA166170446 rs2725263 PA390 ABCG2 NC_000004.12:88105276 1 0 0 0 0 NG_032067.2:g.131047T>A, NC_000004.11:g.89026428=, NC_000004.12:g.88105276A>T, 60548962, NC_000004.12:g.88105276=, NC_000004.12:g.88105276A>C, NG_032067.2:g.131047=, rs2725263, NC_000004.11:g.89026428A>T, NG_032067.2:g.131047T>G, NC_000004.11:g.89026428A>C, 2725263 +PA166161579 rs2725264 PA390 ABCG2 NC_000004.12:88104957 1 0 0 0 0 NC_000004.11:g.89026109=, NG_032067.2:g.131366=, 2725264, NC_000004.11:g.89026109C>A, NG_032067.2:g.131366G>A, NC_000004.11:g.89026109C>T, rs2725264, 59340200, NC_000004.12:g.88104957=, NC_000004.12:g.88104957C>T, NG_032067.2:g.131366G>T, NC_000004.12:g.88104957C>A +PA166170032 rs2725335 PA134879671,PA367 PURG,WRN NC_000008.11:31034997 1 0 0 0 0 rs2725335, NC_000008.10:g.30892513=, NG_008870.1:g.6736G>A, 2725335, NC_000008.11:g.31034997G>A, NG_008870.1:g.6736=, 60708894, NC_000008.10:g.30892513G>A, NC_000008.11:g.31034997= +PA166154382 rs2727784 PA49 APOA1 NC_000011.10:116840425 1 0 0 0 0 NG_012021.1:g.2198=, rs2727784, NC_000011.10:g.116840425C>T, 2727784, NC_000011.9:g.116711141C>T, NC_000011.10:g.116840425C>G, NC_000011.10:g.116840425=, NC_000011.9:g.116711141=, NG_012021.1:g.2198G>A, 3758982, NR_126362.1:n.123+4186C>T, rs3758982, NG_012021.1:g.2198G>C, NC_000011.9:g.116711141C>G +PA166154383 rs2727786 PA49 APOA1 NC_000011.10:116837807 1 1 0 0 0 XM_005271540.1:c.-300G>C, rs2727786, 2727786, NC_000011.9:g.116708523=, XM_005271539.2:c.-269G>C, NM_001318017.1:c.-300G>C, NC_000011.10:g.116837807C>G, XM_005271539.1:c.-269G>C, NM_000039.2:c.-223G>C, NM_001318021.1:c.-506G>C, NM_001318018.1:c.-269G>C, NC_000011.9:g.116708523C>G, NG_012021.1:g.4816G>C, NC_000011.10:g.116837807=, NR_126362.1:n.123+1568C>G, NG_012021.1:g.4816= +PA166165000 rs272893 PA332 SLC22A4 NC_000005.10:132327369 1 0 0 0 0 NC_000005.9:g.131663062T>G, NP_003050.2:p.Ile306=, NP_003050.2:p.Ile306Arg, rs272893, 781674, NC_000005.9:g.131663062T>C, NG_012129.1:g.37918=, NG_012129.1:g.37918T>C, NG_012129.2:g.37918T>G, NG_012129.2:g.37918=, NP_003050.2:p.Ile306Thr, NC_000005.10:g.132327369=, NC_000005.10:g.132327369T>G, 58129057, NC_000005.10:g.132327369T>C, 386572780, 52812854, NG_012129.1:g.37918T>G, 272893, NG_012129.2:g.37918T>C, NC_000005.9:g.131663062= +PA166160809 rs2734414 PA30163 KLRC1 NC_000012.12:10446203 1 0 0 0 0 NC_000012.12:g.10446203A>T, NC_000012.11:g.10598802A>T, 61414023, 2734414, 72551019, NC_000012.11:g.10598802=, rs2734414, NC_000012.12:g.10446203= +PA166160811 rs2734440 PA30163 KLRC1 NC_000012.12:10449478 1 0 0 0 0 rs2734440, NC_000012.12:g.10449478C>A, 2734440, NC_000012.12:g.10449478=, 17741522, NC_000012.11:g.10602077C>A, NC_000012.11:g.10602077C>T, NC_000012.11:g.10602077=, NC_000012.12:g.10449478C>T +PA166161405 rs2734583 PA25262,PA145007735 DDX39B,SNORD117 NC_000006.12:31537703 1 1 0 0 0 rs2734583, 114050967, NC_000006.11:g.31505480A>G, 2734583, 117124374, NC_000006.12:g.31537703A>G, NC_000006.11:g.31505480=, NC_000006.12:g.31537703=, 58191112, 74290516 +PA166154384 rs2734833 PA27478 DRD2 NC_000011.10:113422198 4 1 0 0 0 NM_016574.3:c.285+2169C>T, rs59138073, 386572906, NC_000011.10:g.113422198G>A, rs386572906, XM_005271425.1:c.285+2169C>T, rs2734833, NM_000795.3:c.285+2169C>T, 2734833, NC_000011.9:g.113292920=, NC_000011.10:g.113422198=, NC_000011.9:g.113292920G>A, NG_008841.1:g.58082C>T, NG_008841.1:g.58082=, XM_005271426.1:c.289+2165C>T, 59138073 +PA166154385 rs2734841 PA27478 DRD2 NC_000011.10:113411054 1 1 0 0 0 NC_000011.10:g.113411054A>T, NG_008841.1:g.69226T>C, NG_008841.1:g.69226=, NC_000011.9:g.113281776A>C, rs17115519, NG_008841.1:g.69226T>G, NC_000011.9:g.113281776A>G, rs12802428, XM_005271426.1:c.1136-134T>G, NC_000011.10:g.113411054A>C, NC_000011.10:g.113411054=, 58907051, NC_000011.9:g.113281776=, NC_000011.9:g.113281776A>T, 2734841, rs2734841, 17115519, XM_005271425.1:c.1139-134T>G, NM_000795.3:c.1139-134T>G, NC_000011.10:g.113411054A>G, NM_016574.3:c.1052-134T>G, 12802428, rs58907051, NG_008841.1:g.69226T>A +PA166154386 rs2734842 PA27478 DRD2 NC_000011.10:113409552 1 1 0 0 0 NC_000011.9:g.113280274G>C, XM_005271425.1:c.*1175C>G, NM_000795.3:c.*1175C>G, NC_000011.10:g.113409552=, 2734842, 12794936, NG_008841.1:g.70728C>G, NG_008841.1:g.70728=, rs12794936, rs2734842, NC_000011.10:g.113409552G>C, NC_000011.9:g.113280274=, XM_005271426.1:c.*1175C>G, NM_016574.3:c.*1175C>G +PA166154387 rs2734849 PA134872551 ANKK1 NC_000011.10:113399438 1 0 0 0 0 XM_011542738.1:c.1280A>G, rs59959221, NC_000011.9:g.113270160A>C, XP_011541038.1:p.His501Arg, NG_012976.1:g.16648A>C, NG_012976.1:g.16648A>G, NM_178510.1:c.1469A>G, XP_011541039.1:p.His491Arg, rs386572908, NC_000011.10:g.113399438A>G, rs52793977, XP_011541040.1:p.His427Arg, NC_000011.10:g.113399438A>C, 386572908, NP_848605.1:p.His490Pro, XM_011542737.1:c.1472A>G, XM_011542736.1:c.1502A>G, 2734849, 52793977, NC_000011.9:g.113270160=, rs2734849, NC_000011.10:g.113399438=, 59959221, NC_000011.9:g.113270160A>G, NP_848605.1:p.His490Arg, NG_012976.1:g.16648=, NP_848605.1:p.His490= +PA166157046 rs2736195 PA435 TNF NC_000006.12:31574914 1 0 0 0 0 NT_167246.1:g.2885575A>G, NG_012010.1:g.7816=, NT_113891.3:g.3052201A>G, NG_007462.1:g.4342A>G, NT_167247.1:g.2922397A>G, NG_012010.1:g.7816A>G, NT_167245.2:g.2822647A>G, NT_167249.2:g.2874194A>G, NT_167247.2:g.2916812A>G, NC_000006.11:g.31542691=, NC_000006.11:g.31542691A>G, NM_000594.3:c.-828A>G, NG_007462.1:g.4342=, NT_167245.1:g.2828232A>G, NT_167248.2:g.2830733A>G, NT_167248.1:g.2836329A>G, NC_000006.12:g.31574914=, NC_000006.12:g.31574914A>G, NT_167249.1:g.2873492A>G, NT_113891.2:g.3052307A>G, rs2736195, NT_167246.2:g.2879955A>G, 2736195 +PA166256641 rs2736308 NC_000008.11:11390991 2 1 0 0 0 NC_000008.11:g.11390991C>A, NC_000008.10:g.11248500C>A, 61322617, NC_000008.11:g.11390991C>T, NC_000008.10:g.11248500C>G, NC_000008.10:g.11248500C>T, rs2736308, NC_000008.11:g.11390991C>G, 2736308, NC_000008.11:g.11390991=, NC_000008.10:g.11248500= +PA166157580 rs2736340 PA25368 BLK NC_000008.11:11486464 1 0 0 0 0 NC_000008.11:g.11486464C>A, NC_000008.10:g.11343973=, NC_000008.10:g.11343973C>A, NC_000008.11:g.11486464C>T, 58684812, NC_000008.11:g.11486464=, NC_000008.11:g.11486464C>G, rs58684812, rs2736340, 2736340, NC_000008.10:g.11343973C>G, NC_000008.10:g.11343973C>T +PA166177729 rs2737385 PA190 HNMT NC_000002.12:138005976 1 0 0 0 0 NC_000002.12:g.138005976T>C, NG_012966.1:g.46739T>G, NC_000002.11:g.138763546T>G, NC_000002.12:g.138005976T>G, NC_000002.11:g.138763546=, NG_012966.1:g.46739T>C, NC_000002.11:g.138763546T>C, NC_000002.12:g.138005976=, rs2737385, 2737385, NG_012966.1:g.46739= +PA166155400 rs2738466 PA227 LDLR NC_000019.10:11132089 2 1 0 0 0 17249050, 56908144, NG_009060.1:g.47709=, NC_000019.10:g.11132089A>G, NG_009060.1:g.47709A>G, NC_000019.10:g.11132089A>T, rs56908144, NM_001195798.1:c.*773A>G, NM_001195799.1:c.*773A>G, rs17249050, NC_000019.10:g.11132089=, NM_000527.4:c.*773A>G, rs17766424, XM_011528011.1:c.*773A>G, 2738466, rs2738466, NC_000019.9:g.11242765=, NG_009060.1:g.47709A>T, NM_001195803.1:c.*773A>G, XM_011528010.1:c.*773A>G, NC_000019.9:g.11242765A>T, XM_005259909.1:c.*773A>G, 17766424, NC_000019.9:g.11242765A>G, NM_001195800.1:c.*773A>G +PA166304941 rs2739258 PA26008 CACNA1B NC_000009.12:138116189 1 0 0 0 0 2739258, 56607483, NC_000009.11:g.141010641A>G, rs2739258, NC_000009.12:g.138116189=, NC_000009.12:g.138116189A>G, NG_042271.1:g.243401=, NG_042271.1:g.243401A>G, NC_000009.11:g.141010641= +PA166304962 rs2739260 PA26008 CACNA1B NC_000009.12:138117612 1 0 0 0 0 NC_000009.11:g.141012064=, NC_000009.11:g.141012064A>G, NC_000009.12:g.138117612=, NC_000009.12:g.138117612A>G, 2739260, rs2739260, 60568176, NG_042271.1:g.244824=, NG_042271.1:g.244824A>G +PA166155930 rs2740204 PA32857 OXT NC_000020.11:3081821 1 0 0 0 0 NG_008663.1:g.7904C>G, NC_000020.11:g.3081821G>C, 61543040, NG_008663.1:g.7904C>A, NC_000020.11:g.3081821=, NC_000020.10:g.3062467G>T, 2740204, rs2740204, NC_000020.11:g.3081821G>T, NG_008663.1:g.7904=, NC_000020.10:g.3062467=, rs61543040, NC_000020.10:g.3062467G>C +PA166177331 rs2740434 PA28587 GATA4 NC_000008.11:11751396 1 0 0 0 0 NC_000008.10:g.11608905A>G, NG_008177.2:g.79478=, NC_000008.11:g.11751396=, NC_000008.10:g.11608905A>C, NC_000008.11:g.11751396A>C, 17809872, NC_000008.11:g.11751396A>G, 2740434, rs2740434, NG_008177.2:g.79478A>G, 60477612, NC_000008.10:g.11608905=, NG_008177.2:g.79478A>C +PA166157367 rs2740574 PA130 CYP3A4 NC_000007.14:99784473 103 18 0 0 0 NG_008421.1:g.4713G>A, 3176920, NG_008421.1:g.4713G>C, 36231114, rs3176920, XM_011515842.1:c.-392G>A, NC_000007.14:g.99784473C>A, XM_011515841.1:c.-392G>A, NC_000007.14:g.99784473C>G, NG_008421.1:g.4713G>T, NG_054901.1:g.442=, NM_001202855.2:c.-392G>A, NC_000007.13:g.99382096=, NC_000007.14:g.99784473C>T, NG_008421.1:g.4713=, rs59393892, NG_054901.1:g.442C>T, NC_000007.13:g.99382096C>T, 59393892, NG_054901.1:g.442C>G, 2740574, NC_000007.13:g.99382096C>A, NG_054901.1:g.442C>A, rs2740574, NM_017460.5:c.-392G>A, CYP3A4*1B, NC_000007.14:g.99784473=, NC_000007.13:g.99382096C>G, rs36231114 +PA166155686 rs2741045 PA37174,PA37183,PA419 UGT1A10,UGT1A8,UGT1A9 NC_000002.12:233671494 1 0 0 0 0 56503330, XR_241241.1:n.-355C>T, NC_000002.12:g.233671494=, rs2741045, NM_019075.2:c.855+34117C>T, 2741045, NM_019076.4:c.855+52932C>T, rs59415170, NC_000002.12:g.233671494C>T, NG_002601.2:g.86751C>T, NC_000002.11:g.234580140C>T, rs56503330, NC_000002.11:g.234580140=, NM_021027.2:c.-441C>T, NG_002601.2:g.86751=, 59415170 +PA166155687 rs2741046 PA37174,PA37183,PA419 UGT1A10,UGT1A8,UGT1A9 NC_000002.12:233671603 1 0 0 0 0 XR_241241.1:n.-246T>C, NM_021027.2:c.-332T>C, NC_000002.12:g.233671603T>C, NM_019076.4:c.855+53041T>C, 58706148, rs2741046, NM_019075.2:c.855+34226T>C, NC_000002.11:g.234580249=, NC_000002.12:g.233671603=, NC_000002.11:g.234580249T>C, 2741046, rs58706148, NG_002601.2:g.86860=, NG_002601.2:g.86860T>C +PA166155690 rs2741049 PA37174,PA37182,PA37183,PA419 UGT1A10,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233673188 7 2 0 0 0 NC_000002.12:g.233673188=, rs17863541, 58960856, NC_000002.11:g.234581834T>C, rs58960856, NC_000002.12:g.233673188T>C, NM_019076.4:c.855+54626T>C, NG_002601.2:g.88445T>C, XR_241241.1:n.941+399T>C, 17863541, rs2741049, 2741049, NM_021027.2:c.855+399T>C, NG_002601.2:g.88445=, NC_000002.11:g.234581834=, NM_019075.2:c.855+35811T>C +PA166155287 rs2741171 PA134897613 ENOSF1 NC_000018.10:700687 3 1 0 0 0 NM_001318760.1:c.-352-3332A>G, XR_243810.3:n.230-3332A>G, NC_000018.9:g.700687T>A, XM_011525695.1:c.-673-3332A>G, NC_000018.9:g.700687T>C, XM_011525683.1:c.220+5783A>G, NC_000018.9:g.700687T>G, NC_000018.9:g.700687=, XM_011525688.1:c.63+5783A>G, XM_011525696.1:c.-758-3332A>G, XM_005258118.2:c.-352-3332A>G, XM_011525680.1:c.194-3332A>G, XM_011525698.1:c.-259+5783A>G, XR_243811.1:n.255-3332A>G, NM_017512.5:c.194-3332A>G, XR_243810.1:n.389-3332A>G, XM_011525682.1:c.194-3332A>G, XM_005258119.1:c.338-3332A>G, XM_005258113.1:c.337+5783A>G, XM_005258111.1:c.338-3332A>G, XM_011525677.1:c.221-3332A>G, XM_011525691.1:c.-673-3332A>G, NM_202758.3:c.257-3332A>G, XM_011525692.1:c.-645-3332A>G, XR_935067.1:n.230-3332A>G, XM_005258118.1:c.-352-3332A>G, XR_243812.1:n.390-3332A>G, XM_011525690.1:c.-171-3273A>G, XM_011525685.1:c.220+5783A>G, 2741171, rs2741171, XR_430041.2:n.392-3332A>G, NC_000018.10:g.700687T>C, NC_000018.10:g.700687T>A, NM_001126123.3:c.63+5783A>G, XM_011525678.1:c.212-3332A>G, XM_005258114.1:c.193+5783A>G, XM_011525679.1:c.221-3332A>G, NC_000018.10:g.700687T>G, NC_000018.10:g.700687=, XM_011525694.1:c.-267-3332A>G, NM_001318759.1:c.194-3332A>G, XM_011525689.1:c.-112-3332A>G, XM_005258115.1:c.63+5783A>G, XR_935066.1:n.230-3332A>G, XM_011525686.1:c.85-6353A>G, XM_011525697.1:c.-855-3332A>G, XM_011525684.1:c.193+5783A>G, XM_011525687.1:c.193+5783A>G, XM_011525681.1:c.221-3332A>G, XM_005258112.1:c.113-3332A>G, XR_243811.2:n.255-3332A>G, XM_005258116.1:c.63+5783A>G +PA166183958 rs2741868 PA26488 CHRNA10 NC_000011.10:3668953 1 0 0 0 0 NC_000011.10:g.3668953A>T, NC_000011.9:g.3690183A>C, rs2741868, NC_000011.10:g.3668953A>C, NC_000011.9:g.3690183=, NC_000011.9:g.3690183A>T, NC_000011.9:g.3690183A>G, NC_000011.10:g.3668953A>G, NC_000011.10:g.3668953=, 2741868, 117850242 +PA166156364 rs2742390 PA34925 SACM1L NC_000003.12:45715230 1 1 0 0 0 rs2742390, XM_005264965.1:c.394+1151G>A, NM_014016.4:c.577+1151G>A, 2742390, NM_001319073.1:c.268+1151G>A, NC_000003.11:g.45756722G>A, 61051571, NC_000003.11:g.45756722=, NC_000003.12:g.45715230G>A, XM_011533500.1:c.394+1151G>A, rs17263686, NM_001319072.1:c.394+1151G>A, NC_000003.12:g.45715230=, XR_245103.1:n.687+1151G>A, rs61051571, 17263686, XR_940392.1:n.687+1151G>A, XM_011533499.1:c.394+1151G>A +PA166156365 rs2742417 PA34925 SACM1L NC_000003.12:45689959 1 1 0 0 0 rs56457125, 57741455, NC_000003.11:g.45731451C>G, XM_011533499.1:c.-24+462C>T, NC_000003.12:g.45689959C>G, NM_001319073.1:c.-317-389C>T, NC_000003.11:g.45731451=, NC_000003.11:g.45731451C>T, XM_011533500.1:c.-63-389C>T, rs2742417, NR_033947.1:n.-1077G>A, 56457125, 2742417, XR_940392.1:n.142+462C>T, NM_014016.4:c.32+462C>T, rs57741455, NC_000003.12:g.45689959=, NM_001319072.1:c.-24+462C>T, XR_245103.1:n.142+462C>T, NC_000003.12:g.45689959C>T, XM_005264965.1:c.-24+462C>T +PA166156366 rs2742421 PA34925 SACM1L NC_000003.12:45691023 1 1 0 0 0 NC_000003.11:g.45732515T>G, XM_011533499.1:c.-24+1526T>G, NM_001319073.1:c.-278+636T>G, XM_005264965.1:c.-24+1526T>G, XR_245103.1:n.142+1526T>G, XR_940392.1:n.142+1526T>G, 3774662, NM_014016.4:c.32+1526T>G, rs3774662, rs2742421, 60315361, NC_000003.11:g.45732515=, NC_000003.12:g.45691023T>G, NM_001319072.1:c.-24+1526T>G, 2742421, XM_011533500.1:c.-24+636T>G, NC_000003.12:g.45691023=, rs60315361 +PA166156367 rs2742423 PA34925 SACM1L NC_000003.12:45691938 1 1 0 0 0 NM_001319073.1:c.-278+1551A>G, XM_011533500.1:c.-24+1551A>G, rs58317800, NM_014016.4:c.32+2441A>G, XR_245103.1:n.142+2441A>G, NC_000003.12:g.45691938A>T, NC_000003.11:g.45733430=, NC_000003.12:g.45691938=, NC_000003.11:g.45733430A>G, 58317800, XM_011533499.1:c.-24+2441A>G, 2742423, rs2742423, XR_940392.1:n.142+2441A>G, NC_000003.12:g.45691938A>G, XM_005264965.1:c.-24+2441A>G, NM_001319072.1:c.-24+2441A>G, NC_000003.11:g.45733430A>T +PA166156368 rs2742435 PA34925 SACM1L NC_000003.12:45699371 1 1 0 0 0 NM_001319072.1:c.-23-4067G>A, rs17328981, NM_014016.4:c.33-4067G>A, XM_011533499.1:c.-23-4067G>A, XR_245103.1:n.143-4067G>A, NC_000003.11:g.45740863=, 17328981, XM_005264965.1:c.-23-4067G>A, rs61726216, 61726216, rs2742435, 2742435, NC_000003.12:g.45699371=, NC_000003.11:g.45740863G>A, XR_940392.1:n.143-4067G>A, XM_011533500.1:c.-23-4067G>A, NC_000003.12:g.45699371G>A, NM_001319073.1:c.-277-4067G>A +PA166177419 rs2745557 PA293 PTGS2 NC_000001.11:186680089 1 0 0 0 0 NG_028206.2:g.5339T>C, 57271729, NC_000001.11:g.186680089=, 2745557, rs2745557, NC_000001.11:g.186680089A>T, NG_028206.2:g.5339=, NC_000001.10:g.186649221A>G, NC_000001.11:g.186680089A>G, NC_000001.10:g.186649221=, NG_028206.2:g.5339T>A, NC_000001.10:g.186649221A>T +PA166176780 rs274558 PA333 SLC22A5 NC_000005.10:132385482 1 1 0 0 0 NP_003051.1:p.Leu269=, 3749754, NG_008982.2:g.20779=, 621570, 61010759, NG_008982.2:g.20779A>G, 386573186, rs274558, NC_000005.10:g.132385482=, NG_008982.1:g.20774=, 274558, NC_000005.10:g.132385482A>G, NC_000005.9:g.131721174=, NC_000005.9:g.131721174A>G, NG_008982.1:g.20774A>G +PA166155931 rs2745761 PA33384 PLCB1 NC_000020.11:8297296 1 0 0 0 0 NM_182734.2:c.178-74086G>C, NC_000020.10:g.8277943=, NC_000020.11:g.8297296G>A, rs2745761, 61713950, XM_011529199.1:c.178-74086G>C, NG_028168.1:g.169648G>C, XM_005260681.1:c.178-74086G>C, NG_028168.1:g.169648G>A, 2745761, NC_000020.11:g.8297296=, XM_011529202.1:c.178-74086G>C, NC_000020.10:g.8277943G>C, NC_000020.11:g.8297296G>C, NM_015192.3:c.178-74086G>C, NG_028168.1:g.169648=, NC_000020.10:g.8277943G>A, rs61713950 +PA166157251 rs274618 PA28992 GRM3 NC_000007.14:86642700 1 1 0 0 0 NM_000840.2:c.-2313T>A, NC_000007.13:g.86272016T>C, rs56649261, rs274618, NC_000007.13:g.86272016T>G, 10330593, NC_000007.14:g.86642700T>A, NC_000007.14:g.86642700=, XM_005250289.1:c.-2073T>A, NC_000007.14:g.86642700T>C, NC_000007.13:g.86272016T>A, XM_005250287.1:c.-2089T>A, 56649261, rs10330593, NC_000007.13:g.86272016=, 274618, NC_000007.14:g.86642700T>G +PA166157252 rs274622 PA28992 GRM3 NC_000007.14:86643624 1 1 0 0 0 XM_005250289.1:c.-1149C>T, NC_000007.13:g.86272940C>A, NC_000007.14:g.86643624=, NC_000007.14:g.86643624C>T, rs10358739, NM_000840.2:c.-1389C>T, rs274622, NC_000007.13:g.86272940C>T, XM_011516088.1:c.-1389C>T, XM_011516089.1:c.-1389C>T, XM_011516090.1:c.-1389C>T, 274622, 10358739, NC_000007.14:g.86643624C>A, XM_005250287.1:c.-1165C>T, NC_000007.13:g.86272940=, NC_000007.13:g.86272940C>G, NC_000007.14:g.86643624C>G +PA166156724 rs274713 PA33523 TENT4A NC_000005.10:6723447 1 1 0 0 0 NC_000005.9:g.6723560=, XM_011513947.1:c.-35+8505T>G, rs61340760, rs1456968, NC_000005.10:g.6723447T>C, 1456968, NM_001171805.1:c.-35+8748T>G, NC_000005.10:g.6723447T>G, XM_005248234.2:c.716+8748T>G, rs61577976, XM_005248234.1:c.716+8748T>G, rs274713, NC_000005.10:g.6723447=, 61340760, XM_005248236.1:c.-35+8748T>G, NC_000005.9:g.6723560T>G, NM_006999.4:c.-35+8748T>G, 274713, XM_011513946.1:c.-35+8328T>G, 61577976, NC_000005.9:g.6723560T>C +PA166156725 rs274717 PA33523 TENT4A NC_000005.10:6720954 1 1 0 0 0 NC_000005.9:g.6721067=, NC_000005.10:g.6720954A>T, NM_006999.4:c.-35+6255A>G, XM_011513946.1:c.-35+5835A>G, 58480177, rs274717, NC_000005.10:g.6720954A>G, XM_005248234.1:c.716+6255A>G, NC_000005.9:g.6721067A>T, XM_005248236.1:c.-35+6255A>G, NC_000005.10:g.6720954=, XM_005248234.2:c.716+6255A>G, NM_001171805.1:c.-35+6255A>G, rs58480177, NC_000005.9:g.6721067A>G, XM_011513947.1:c.-35+6012A>G, 274717 +PA166156809 rs2748249 PA26236 CD74 NC_000005.10:150413037 1 0 0 0 0 XM_005268546.1:c.-57G>T, rs2748249, NC_000005.9:g.149792600C>A, 2748249, NG_029730.1:g.4900G>T, NM_004355.3:c.-288G>T, NC_000005.10:g.150413037C>A, rs386573235, NC_000005.10:g.150413037=, NG_029730.1:g.4900=, NM_001025159.2:c.-288G>T, 386573235, XM_005268545.1:c.-57G>T, NC_000005.9:g.149792600=, NM_001025158.2:c.-288G>T +PA166160567 rs27524 PA26098,PA162385163 CAST,ERAP1 NC_000005.10:96766240 3 0 0 0 0 27524, NC_000005.10:g.96766240A>C, NG_027839.2:g.174744=, NG_029490.2:g.109204=, NG_027839.2:g.174744T>G, NC_000005.10:g.96766240A>G, NG_027839.2:g.174744T>A, NC_000005.9:g.96101944=, NG_027839.2:g.174744T>C, 1143706, NC_000005.9:g.96101944A>T, NC_000005.10:g.96766240=, NG_029490.2:g.109204A>T, 58251632, NC_000005.10:g.96766240A>T, NC_000005.9:g.96101944A>C, NC_000005.9:g.96101944A>G, NG_027839.1:g.52905=, rs27524, NG_029490.1:g.109204A>T, NG_027839.1:g.52905T>A, NG_027839.1:g.52905T>C, NG_029490.1:g.109204A>G, 17086659, NG_029490.2:g.109204A>G, NG_029490.1:g.109204=, NG_029490.2:g.109204A>C, NG_027839.1:g.52905T>G, NG_029490.1:g.109204A>C +PA166204381 rs2753325 PA380 CACNA1H NC_000016.10:1211222 1 0 0 0 0 NG_012647.1:g.62982A>C, rs2753325, 2753325, 61173617, NC_000016.9:g.1261222=, NP_066921.2:p.Ser1426=, NG_012647.1:g.62982=, NC_000016.9:g.1261222A>G, NC_000016.10:g.1211222A>C, NG_012647.1:g.62982A>G, NC_000016.10:g.1211222=, NC_000016.10:g.1211222A>G, NC_000016.9:g.1261222A>C +PA166204361 rs2753326 PA380 CACNA1H NC_000016.10:1211219 1 0 0 0 0 2753326, NC_000016.10:g.1211219A>G, NP_066921.2:p.Ser1425=, rs2753326, NC_000016.10:g.1211219=, NC_000016.9:g.1261219=, 58584271, NG_012647.1:g.62979=, NC_000016.9:g.1261219A>G, NG_012647.1:g.62979A>G +PA166181273 rs2756109 PA116 ABCC2 NC_000010.11:99798989 1 0 0 0 0 2756109, NG_011798.1:g.21284=, NG_011798.2:g.21392G>T, rs2756109, NC_000010.11:g.99798989=, NC_000010.10:g.101558746=, 56642733, 61506982, NG_011798.2:g.21392=, NG_011798.1:g.21284G>T, NC_000010.11:g.99798989G>T, NC_000010.10:g.101558746G>T, 386425514 +PA166156283 rs275651 PA43 AGTR1 NC_000003.12:148697100 2 1 0 0 0 rs61174253, NM_031850.3:c.-1112T>A, 3755646, rs60031984, NG_008468.1:g.4230T>A, NM_004835.4:c.-1028T>A, 17230455, rs770424, rs3755646, NM_000685.4:c.-1159T>A, 111181444, NM_009585.3:c.-1075T>A, 60031984, rs111181444, NC_000003.12:g.148697100=, 770424, rs770637, NG_008468.1:g.4230=, rs275651, 1800768, NC_000003.11:g.148414887T>A, rs1800768, 275651, 61174253, 770637, rs17230455, NC_000003.11:g.148414887=, NC_000003.12:g.148697100T>A +PA166177621 rs2758339 PA36017 SOD2 NC_000006.12:159691552 1 1 0 0 0 NC_000006.12:g.159691552=, NG_008729.3:g.75978T>A, NC_000006.12:g.159691552A>T, NC_000006.11:g.160112584A>T, NG_008729.3:g.75978=, 2758339, rs2758339, NG_008729.3:g.75978T>G, NC_000006.11:g.160112584=, NC_000006.12:g.159691552A>C, NC_000006.11:g.160112584A>C +PA166157047 rs2760118 PA24702 ALDH5A1 NC_000006.12:24503362 1 1 0 0 0 NC_000006.11:g.24503590=, NC_000006.11:g.24503590C>T, rs52829319, 60953148, NC_000006.12:g.24503362=, NM_170740.1:c.538C>T, NM_001080.3:c.538C>T, rs3765309, 3765309, NG_008161.1:g.13394C>T, NG_008161.1:g.13394=, NC_000006.12:g.24503362C>T, NP_001071.1:p.His180Tyr, 2760118, NP_733936.1:p.His180Tyr, 52829319, rs2760118, rs60953148, NP_001071.1:p.His180= +PA166155932 rs2762939 PA27097 CYP24A1 NC_000020.11:54164712 3 0 0 0 0 NG_008334.1:g.14266C>G, NM_001128915.1:c.733-149C>G, rs57991016, XM_005260304.1:c.733-149C>G, NM_000782.4:c.733-149C>G, NC_000020.11:g.54164712G>T, NC_000020.10:g.52781251=, NG_008334.1:g.14266C>A, NC_000020.10:g.52781251G>C, XM_005260304.3:c.733-149C>G, 57991016, NC_000020.11:g.54164712=, XM_005260305.1:c.733-149C>G, NC_000020.11:g.54164712G>C, 2762939, NG_008334.1:g.14266=, NC_000020.10:g.52781251G>T, rs2762939 +PA166153716 rs2768759 PA31817,PA162399233 NTRK1,PEAR1 NC_000001.11:156882671 5 2 0 0 0 NG_007493.1:g.71922=, 2768759, NC_000001.11:g.156882671=, NC_000001.10:g.156852463=, rs2768759, NC_000001.10:g.156852463A>C, NC_000001.11:g.156882671A>G, NC_000001.11:g.156882671A>C, NC_000001.10:g.156852463A>G, NG_007493.1:g.71922A>C, NG_007493.1:g.71922A>G +PA166157756 rs2769605 NC_000009.12:85297756 1 1 0 0 0 rs2769605, rs61163227, 2769605, rs60079633, NC_000009.11:g.87912671=, NC_000009.11:g.87912671C>T, 60079633, NC_000009.12:g.85297756C>T, 61163227, NC_000009.12:g.85297756= +PA166157757 rs2770150 PA36552 TLR4 NC_000009.12:117700861 1 1 0 0 0 2770150, NC_000009.12:g.117700861=, NC_000009.11:g.120463139A>G, 17420398, NC_000009.12:g.117700861A>G, 59057424, NG_011475.1:g.1680A>G, rs59057424, 56438753, NC_000009.11:g.120463139=, rs17420398, NG_011475.1:g.1680=, rs56438753, rs2770150 +PA166184248 rs2770296 PA193 HTR2A NC_000013.11:46866425 1 1 0 0 0 rs2770296, NG_013011.1:g.35610=, NC_000013.11:g.46866425=, NC_000013.10:g.47440560C>T, NG_013011.1:g.35610G>A, NG_013011.1:g.35610G>C, NC_000013.11:g.46866425C>G, NC_000013.10:g.47440560=, 2770296, 61678631, NC_000013.11:g.46866425C>T, NC_000013.10:g.47440560C>G +PA166154798 rs2776546 NC_000014.9:87161812 1 1 0 0 0 rs2776546, 2776546, NC_000014.9:g.87161812C>T, NC_000014.8:g.87628156=, NC_000014.8:g.87628156C>A, NC_000014.9:g.87161812C>A, NC_000014.8:g.87628156C>T, NC_000014.9:g.87161812=, rs60220495, 60220495 +PA166183952 rs2777511 NC_000010.11:33785635 1 0 0 0 0 NC_000010.10:g.34074563G>T, 4483535, 2777511, NC_000010.11:g.33785635G>T, NC_000010.11:g.33785635G>A, 2891398, NC_000010.11:g.33785635=, rs2777511, NC_000010.10:g.34074563=, NC_000010.10:g.34074563G>A +PA166182401 rs2779562 PA28896 GABBR2 NC_000009.12:98515399 1 0 0 0 0 NG_016426.1:g.198799A>G, NG_016426.1:g.198799A>C, NC_000009.11:g.101277681T>G, NC_000009.11:g.101277681T>C, NC_000009.12:g.98515399=, NC_000009.11:g.101277681=, NC_000009.11:g.101277681T>A, 61395983, NG_016426.1:g.198799A>T, NC_000009.12:g.98515399T>C, NG_016426.1:g.198799=, 2779562, NC_000009.12:g.98515399T>A, NC_000009.12:g.98515399T>G, rs2779562 +PA166180977 rs2781377 PA128394613 SYNE2 NC_000014.9:64093374 1 0 0 0 0 NC_000014.9:g.64093374G>A, 3737165, rs2781377, 52790650, NC_000014.9:g.64093374=, NP_055995.4:p.Trp4001Ter, 2781377, NG_011756.1:g.245410=, NC_000014.8:g.64560092G>A, NC_000014.8:g.64560092=, 17825346, NG_011756.1:g.245410G>A, NP_055995.4:p.Trp4001= +PA166157048 rs2781659 PA24947,PA162395499 ARG1,MED23 NC_000006.12:131570680 1 1 0 0 0 NC_000006.12:g.131570680A>G, 2781659, rs2781659, NC_000006.12:g.131570680=, NG_007086.2:g.2456A>T, 3756775, NC_000006.11:g.131891820A>G, NC_000006.11:g.131891820=, rs3756775, NC_000006.11:g.131891820A>T, NC_000006.12:g.131570680A>T, NG_007086.2:g.2456A>G, NG_007086.2:g.2456= +PA166154018 rs2784917 PA35938 SLIT1 NC_000010.11:97169185 2 1 0 0 0 NM_003061.2:c.198-4295T>C, 2784917, NC_000010.11:g.97169185=, NC_000010.10:g.98928942A>G, NR_037909.1:n.1521-4295T>C, NC_000010.10:g.98928942=, NC_000010.11:g.97169185A>G, rs2784917 +PA166160914 rs2786783 PA145 DPYD NC_000001.11:97515687 3 0 0 0 0 NG_008807.2:g.410373C>T, NC_000001.11:g.97515687=, NG_008807.2:g.410373=, NC_000001.10:g.97981243G>A, NC_000001.11:g.97515687G>A, rs2786783, 2786783, NC_000001.10:g.97981243= +PA166162755 rs2787094 PA24526 ADAM33 NC_000020.11:3668514 1 0 0 0 0 17513804, 3746632, NC_000020.11:g.3668514=, NC_000020.10:g.3649161C>G, rs2787094, 2787094, NC_000020.11:g.3668514C>G, 57121423, NC_000020.10:g.3649161= +PA166157049 rs2789047 NC_000006.12:120868656 1 1 0 0 0 NC_000006.12:g.120868656=, NC_000006.12:g.120868656C>G, 60877583, NC_000006.11:g.121189802=, NC_000006.11:g.121189802C>A, NC_000006.12:g.120868656C>T, NC_000006.12:g.120868656C>A, 2789047, NC_000006.11:g.121189802C>T, rs2789047, rs60877583, NC_000006.11:g.121189802C>G +PA166159128 rs2791188 PA24540 ADAMTS14 NC_000010.11:70756382 1 0 0 0 0 NG_042147.1:g.88580A>G, NG_042147.1:g.88580=, 58923676, NC_000010.11:g.70756382=, 2791188, NC_000010.10:g.72516138=, NC_000010.10:g.72516138A>G, NC_000010.11:g.70756382A>G, rs2791188 +PA166253161 rs2794521 PA120 CRP NC_000001.11:159715306 1 0 0 0 0 NG_013007.1:g.4284G>A, NC_000001.11:g.159715306C>T, NC_000001.11:g.159715306=, NC_000001.10:g.159685096=, NG_013007.1:g.4284=, 2794521, 17860486, NC_000001.10:g.159685096C>T, rs2794521, 60116823 +PA166305741 rs279847 PA28490 GABRA2 NC_000004.12:46322613 1 0 0 0 0 NC_000004.11:g.46324630=, NC_000004.11:g.46324630G>T, 1248579, NC_000004.12:g.46322613G>C, rs279847, 56735259, 17640112, NC_000004.11:g.46324630G>C, 822151, NG_012835.2:g.72427C>A, 279847, NC_000004.12:g.46322613=, NG_012835.2:g.72427=, NG_012835.2:g.72427C>G, NC_000004.12:g.46322613G>T +PA166285103 rs279858 PA28490 GABRA2 NC_000004.12:46312576 1 1 0 0 0 NC_000004.11:g.46314593T>A, NC_000004.11:g.46314593=, NC_000004.11:g.46314593T>C, NP_000798.2:p.Lys132=, NP_000798.2:p.Lys132Asn, rs279858, NC_000004.12:g.46312576=, NG_012835.2:g.82464A>T, 2229938, 279858, 17640082, NC_000004.12:g.46312576T>C, NG_012835.2:g.82464=, NC_000004.12:g.46312576T>A, 59012687, NG_012835.2:g.82464A>G +PA166176945 rs2799018 PA24957 ARHGAP12 NC_000010.11:31913141 1 1 0 0 0 rs2799018, NC_000010.11:g.31913141=, NC_000010.10:g.32202069=, 17582432, NC_000010.10:g.32202069C>G, NC_000010.11:g.31913141C>T, NC_000010.10:g.32202069C>T, 17230069, NG_025482.1:g.93C>G, NG_025482.1:g.93C>T, NC_000010.11:g.31913141C>G, 2799018, NG_025482.1:g.93= +PA166154019 rs2804398 PA116 ABCC2 NC_000010.11:99798877 2 0 0 0 0 59158444, NG_011798.1:g.21172=, NC_000010.10:g.101558634=, rs2804398, NM_000392.4:c.868-330A>T, NC_000010.11:g.99798877=, XM_011539291.1:c.868-330A>T, 2804398, 118194998, NG_011798.2:g.21280=, XR_945604.1:n.1057-330A>T, NG_011798.1:g.21172A>T, NC_000010.11:g.99798877A>T, rs59158444, rs58028129, XM_006717631.2:c.868-330A>T, NC_000010.10:g.101558634A>T, XM_005269536.1:c.868-330A>T, 58028129, NG_011798.2:g.21280A>T, XR_945605.1:n.1059-330A>T, rs118194998, XM_006717630.2:c.172-330A>T +PA166154020 rs2804400 PA116,PA145148412 ABCC2,NANOGP6 NC_000010.11:99793502 1 0 0 0 0 rs3740075, XR_945604.1:n.523-49C>T, 3740075, 17494766, NC_000010.10:g.101553259=, NG_011798.2:g.15905=, NC_000010.10:g.101553259C>T, XM_011539291.1:c.334-49C>T, 2804400, NC_000010.11:g.99793502=, rs2804400, NG_011798.2:g.15905C>T, NC_000010.11:g.99793502C>T, NM_000392.4:c.334-49C>T, XM_006717631.2:c.334-49C>T, rs17494766, NG_011798.1:g.15797=, 59582444, NG_011798.1:g.15797C>T, rs59582444, XM_005269536.1:c.334-49C>T, XR_945605.1:n.525-49C>T +PA166154021 rs2804402 PA116 ABCC2 NC_000010.11:99781826 4 0 0 0 0 XR_945604.1:n.-830A>G, NG_011798.1:g.4121A>G, XR_945605.1:n.-828A>G, rs17222526, 60149027, NM_000392.4:c.-1019A>G, NC_000010.10:g.101541583A>G, rs60149027, XM_011539291.1:c.-1019A>G, NG_011798.2:g.4229A>G, rs2804402, 2804402, XM_005269536.1:c.-1019A>G, NC_000010.11:g.99781826A>G, 17222526, NC_000010.11:g.99781826=, NG_011798.1:g.4121=, XM_006717631.2:c.-1019A>G, NC_000010.10:g.101541583=, NG_011798.2:g.4229= +PA166154022 rs2804495 PA31783 NRP1 NC_000010.11:33323572 1 0 0 0 0 NC_000010.11:g.33323572=, rs2804495, NM_001244973.1:c.248+7136C>A, XM_006717526.1:c.248+7136C>A, 2804495, NR_045259.1:n.771+7136C>A, XM_006717523.1:c.248+7136C>A, NG_030328.1:g.16334=, rs58250934, NG_030328.1:g.16334C>A, NC_000010.10:g.33612500=, NM_001244972.1:c.248+7136C>A, XM_006717521.1:c.248+7136C>A, XM_006717524.1:c.248+7136C>A, 58250934, NC_000010.10:g.33612500G>T, XM_006717522.1:c.248+7136C>A, NM_001024629.2:c.248+7136C>A, XM_006717525.1:c.248+7136C>A, XM_011519755.1:c.248+7136C>A, rs60444912, NM_001024628.2:c.248+7136C>A, XM_011519756.1:c.248+7136C>A, NM_003873.5:c.248+7136C>A, 60444912, NC_000010.11:g.33323572G>T +PA166153717 rs2808630 NC_000001.11:159711078 1 1 0 0 0 2808630, rs2808630, rs57535496, NC_000001.10:g.159680868=, NC_000001.11:g.159711078C>T, NC_000001.10:g.159680868C>T, 17426200, rs17860474, NG_013007.1:g.8512G>A, 17860474, rs386574128, 57535496, 386574128, rs17426200, NC_000001.11:g.159711078=, NG_013007.1:g.8512= +PA166159067 rs281018 PA27361 DLGAP1 NC_000018.10:4413363 1 0 0 0 0 NC_000018.10:g.4413363=, 281018, NC_000018.9:g.4413363=, NC_000018.10:g.4413363C>T, NC_000018.9:g.4413363C>T, 386574152, rs281018 +PA166159892 rs2811178 PA145 DPYD NC_000001.11:97515686 4 0 0 0 0 199469544, NG_008807.2:g.410374A>G, NC_000001.11:g.97515686=, NG_008807.2:g.410374=, NC_000001.10:g.97981242T>C, rs2811178, 2811178, NC_000001.11:g.97515686T>C, NC_000001.10:g.97981242= +PA166156369 rs2811332 PA134951990 TMCC1 NC_000003.12:129796285 1 0 0 0 0 NC_000003.11:g.129515128G>C, NM_001128224.2:c.234+31518C>G, XM_011512575.1:c.576+31518C>G, XM_006713550.2:c.234+31518C>G, XM_011512571.1:c.576+31518C>G, NM_001017395.3:c.576+31518C>G, XM_006713545.2:c.576+31518C>G, XM_011512579.1:c.576+31518C>G, XM_011512569.1:c.576+31518C>G, XM_011512570.1:c.576+31518C>G, 56578154, XM_006713542.2:c.576+31518C>G, NC_000003.12:g.129796285G>C, XM_011512581.1:c.234+31518C>G, XM_011512574.1:c.576+31518C>G, XM_011512578.1:c.576+31518C>G, XM_011512583.1:c.6+36489C>G, NC_000003.11:g.129515128=, XM_011512580.1:c.234+31518C>G, NC_000003.12:g.129796285G>T, XM_011512577.1:c.576+31518C>G, XM_011512573.1:c.576+31518C>G, NC_000003.12:g.129796285=, rs56578154, XM_006713543.2:c.576+31518C>G, XM_006713544.1:c.576+31518C>G, XM_011512572.1:c.576+31518C>G, XM_011512584.1:c.6+36489C>G, NC_000003.11:g.129515128G>T, XM_011512568.1:c.576+31518C>G, rs2811332, 2811332, XM_011512582.1:c.-1923C>G, XM_011512576.1:c.576+31518C>G, 7628570, rs7628570 +PA166157758 rs2812378 PA35552 CCL21 NC_000009.12:34710263 1 0 0 0 0 NC_000009.11:g.34710260G>A, NM_002989.3:c.-197C>T, rs57427236, NC_000009.12:g.34710263G>A, NC_000009.11:g.34710260G>C, rs16931795, NC_000009.12:g.34710263G>C, NC_000009.12:g.34710263=, rs386574189, 16931795, 386574189, 57427236, NC_000009.11:g.34710260=, XM_011518004.1:c.-197C>T, XR_242544.1:n.124+7225G>A, rs2812378, 2812378 +PA166157050 rs2813543 PA156 ESR1 NC_000006.12:152103343 1 1 0 0 0 NG_008493.2:g.451653=, NM_001291241.1:c.*4377A>G, XM_006715375.2:c.*4377A>G, rs17244076, NC_000006.12:g.152103343A>C, XM_011535544.1:c.*4377A>G, XM_011535546.1:c.*4377A>G, 17244076, NC_000006.11:g.152424478A>T, XM_011535545.1:c.*4377A>G, XM_011535549.1:c.*4377A>G, rs2813543, NC_000006.11:g.152424478A>G, 2813543, XM_011535548.1:c.*4377A>G, NM_001291230.1:c.*4377A>G, NG_008493.2:g.451653A>C, XM_006715374.2:c.*4580A>G, NC_000006.11:g.152424478A>C, NG_008493.2:g.451653A>G, NM_000125.3:c.*4377A>G, NM_001122741.1:c.*4377A>G, NC_000006.12:g.152103343=, NM_001122742.1:c.*4377A>G, XM_011535543.1:c.*4377A>G, 57329187, rs57329187, NG_008493.2:g.451653A>T, NC_000006.12:g.152103343A>G, NM_001122740.1:c.*4377A>G, NG_008493.1:g.417848A>G, NC_000006.12:g.152103343A>T, NC_000006.11:g.152424478= +PA166157759 rs2814707 PA134886513 MOB3B NC_000009.12:27536399 1 1 0 0 0 rs60823002, NC_000009.11:g.27536397C>T, 60823002, NC_000009.12:g.27536399=, 2814707, NC_000009.12:g.27536399C>T, rs2814707, NC_000009.12:g.27536399C>G, NC_000009.11:g.27536397C>G, NC_000009.11:g.27536397= +PA166261281 rs2814778 PA28451 ACKR1 NC_000001.11:159204893 1 0 0 0 0 NG_011626.3:g.5881=, NG_011626.3:g.5881T>C, NC_000001.11:g.159204893=, NC_000001.10:g.159174683T>C, NG_051933.1:g.38330T>C, 59974233, rs2814778, 2814778, NG_051933.1:g.38330=, NC_000001.11:g.159204893T>C, NC_000001.10:g.159174683= +PA166153718 rs2815752 NC_000001.11:72346757 1 0 0 0 0 XR_947507.1:n.310+63352G>A, NC_000001.11:g.72346757=, XR_947506.1:n.310+63352G>A, NC_000001.10:g.72812440G>C, NC_000001.10:g.72812440G>A, 2815752, XR_947505.1:n.310+63352G>A, NC_000001.10:g.72812440=, rs2815752, NC_000001.11:g.72346757G>A, NC_000001.11:g.72346757G>C +PA166155577 rs281864907 PA123 CYP2B6 NC_000019.10:41004015 2 1 1 0 0 XM_011526548.1:c.186T>A, NP_000758.1:p.Tyr62Ter, XP_006723113.1:p.Tyr62Ter, NG_007929.1:g.17717T>A, XM_006723050.2:c.186T>A, NP_000758.1:p.Tyr62=, NC_000019.10:g.41004015=, NC_000019.9:g.41509920T>A, NC_000019.10:g.41004015T>A, XP_005258627.1:p.Tyr62Ter, XP_005258628.1:p.Tyr22Ter, XP_005258626.1:p.Tyr62Ter, NM_000767.4:c.186T>A, 281864907, XM_011526546.1:c.186T>A, XM_005258569.3:c.186T>A, XM_011526550.1:c.66T>A, XM_005258570.1:c.186T>A, XM_005258571.1:c.66T>A, XM_011526547.1:c.186T>A, XP_011524848.1:p.Tyr62Ter, XP_011524849.1:p.Tyr62Ter, NC_000019.9:g.41509920=, rs281864907, XP_011524850.1:p.Tyr62Ter, XM_005258569.1:c.186T>A, NG_007929.1:g.17717=, XP_011524852.1:p.Tyr22Ter, XM_011526549.1:c.-507T>A +PA166153719 rs2819742 PA300 RYR2 NC_000001.11:237826822 3 2 0 0 0 XM_005273224.1:c.14648-1559A>G, NC_000001.11:g.237826822A>T, XM_006711805.2:c.14615-1559A>G, 60098173, NG_008799.2:g.789421=, XM_006711806.2:c.14609-1559A>G, XM_006711802.2:c.14645-1559A>G, rs2819742, 2819742, XM_006711808.2:c.14408-1559A>G, NG_008799.2:g.789421A>T, NC_000001.10:g.237990122A>T, NC_000001.10:g.237990122A>G, rs60098173, XM_006711804.2:c.14621-1559A>G, XM_006711803.2:c.14642-1559A>G, NG_008799.3:g.789639=, NG_008799.2:g.789421A>G, NM_001035.2:c.14591-1559A>G, 9428700, NG_008799.3:g.789639A>T, rs9428700, NC_000001.11:g.237826822=, NC_000001.11:g.237826822A>G, XM_006711810.2:c.14552-1559A>G, XM_006711807.2:c.14585-1559A>G, NC_000001.10:g.237990122=, NG_008799.3:g.789639A>G +PA166203156 rs2822548 PA134875904 ABCC13 NC_000021.9:14283731 1 0 0 0 0 59856567, NC_000021.9:g.14283731=, NC_000021.9:g.14283731A>T, NC_000021.9:g.14283731A>C, NC_000021.8:g.15656052=, 2822548, rs2822548, NC_000021.8:g.15656052A>T, NC_000021.8:g.15656052A>C +PA166155998 rs2824292 NC_000021.9:17414857 1 0 0 0 0 rs2824292, rs17833052, NC_000021.8:g.18787176G>A, rs56823203, NC_000021.9:g.17414857G>A, 56823203, 2824292, 17833052, NC_000021.8:g.18787176=, NC_000021.9:g.17414857= +PA166155999 rs2826494 NC_000021.9:20732377 1 1 0 0 0 17729813, rs2826494, 2826494, NC_000021.8:g.22104695C>G, NC_000021.9:g.20732377=, rs17729813, NC_000021.9:g.20732377C>G, NC_000021.8:g.22104695= +PA166156000 rs2831440 NC_000021.9:28055779 1 1 0 0 0 2831440, rs56883385, 56446514, NC_000021.8:g.29428098=, NC_000021.8:g.29428098G>T, rs2831440, 60523216, NC_000021.9:g.28055779G>C, rs17733738, NC_000021.8:g.29428098G>C, 56883385, NC_000021.9:g.28055779=, rs56446514, rs60523216, 17733738, NC_000021.9:g.28055779G>T, NR_126010.1:n.124+7242G>T +PA166156001 rs2832407 PA28973,PA165378440 GRIK1,GRIK1-AS2 NC_000021.9:29595188 4 1 0 0 0 NC_000021.9:g.29595188C>A, XM_005260942.1:c.1206+3642G>T, NC_000021.9:g.29595188=, NM_175611.2:c.1206+3642G>T, XM_005260944.1:c.1206+3642G>T, XM_011529527.1:c.1251+1338G>T, 57193330, XM_005260943.1:c.1251+1338G>T, XM_005260945.1:c.1038+3642G>T, NC_000021.8:g.30967508C>T, XM_006723991.1:c.1251+1338G>T, NR_033368.1:n.-852C>A, rs57193330, NC_000021.9:g.29595188C>T, rs2832407, NM_000830.3:c.1251+1338G>T, XM_005260944.2:c.1206+3642G>T, NC_000021.8:g.30967508=, XM_011529528.1:c.1251+1338G>T, 2832407, NC_000021.8:g.30967508C>A +PA166156484 rs283411 PA24572 ADH1C NC_000004.12:99344800 1 0 0 0 0 NG_011718.1:g.12961G>T, rs1662054, 1215591, NM_000669.4:c.567+62G>T, rs1215591, 1662054, NC_000004.11:g.100265957C>A, NC_000004.12:g.99344800C>A, NR_133005.1:n.937+62G>T, XM_011531588.1:c.465+62G>T, NG_011718.1:g.12961G>A, XM_011531589.1:c.447+62G>T, NG_011718.1:g.12961=, NC_000004.11:g.100265957=, 283411, NC_000004.12:g.99344800=, NC_000004.12:g.99344800C>T, NC_000004.11:g.100265957C>T, rs283411 +PA166156485 rs283416 PA24572 ADH1C NC_000004.12:99350199 1 0 0 0 0 NC_000004.11:g.100271356G>A, 1215587, NC_000004.12:g.99350199=, NC_000004.12:g.99350199G>A, rs1215587, NM_000669.4:c.19-2353C>T, XM_011531588.1:c.18+2459C>T, XM_011531589.1:c.-103+814C>T, rs1630421, 1630421, NG_011718.1:g.7562=, NR_133005.1:n.389-2353C>T, 283416, NC_000004.11:g.100271356=, NG_011718.1:g.7562C>T, rs283416 +PA166160981 rs2834826 NC_000021.9:35192354 1 0 0 0 0 58292033, 386574534, NC_000021.9:g.35192354=, NC_000021.8:g.36564651=, NG_011402.2:g.797358G>A, NC_000021.9:g.35192354C>T, 74276057, NC_000021.8:g.36564651C>T, NG_011402.2:g.797358=, rs2834826, 2834826 +PA166156002 rs2835285 PA26122 CBR3 NC_000021.9:36135469 1 0 0 0 0 NP_001227.1:p.Val93Ile, XM_011529772.1:c.277G>A, NC_000021.8:g.37507767=, NR_038892.1:n.193-1708C>T, rs2835285, 2835285, NR_038893.1:n.193-2395C>T, NG_052818.1:g.5569=, NC_000021.9:g.36135469G>A, XP_005261131.1:p.Val93Ile, NC_000021.8:g.37507767G>A, XM_005261074.1:c.277G>A, NG_052818.1:g.5569G>A, NM_001236.3:c.277G>A, XP_011528074.1:p.Val93Ile, NC_000021.9:g.36135469=, NP_001227.1:p.Val93= +PA166158910 rs28358569 PA31274 MT-RNR1 NC_012920.1:827 2 2 0 0 0 113842757, NC_012920.1:m.827A>C, NC_012920.1:m.827A>G, 28358569, 386508207, 76082894, rs28358569, NC_012920.1:m.827= +PA166229161 rs28358571 PA31274 MT-RNR1 NC_012920.1:1189 1 2 0 0 0 41432646, 111033197, 372305532, 112332167, rs28358571, NC_012920.1:m.1189T>C, 28358571, 201384157, 45451591, NC_012920.1:m.1189= +PA166229181 rs28358572 PA31274 MT-RNR1 NC_012920.1:1243 1 1 0 0 0 NC_012920.1:m.1243T>C, 28358572, 193302951, rs28358572, 111033172, 55647256, NC_012920.1:m.1243= +PA166156003 rs2835859 PA30049 KCNJ6 NC_000021.9:37645860 1 1 0 0 0 XM_011529559.1:c.947-20376A>G, XM_011529558.1:c.947-20376A>G, 57686640, NG_029892.2:g.275534A>G, NC_000021.9:g.37645860T>C, NM_002240.4:c.947-20376A>G, rs57686640, 2835859, NC_000021.9:g.37645860=, NG_029892.2:g.275534=, rs2835859, NC_000021.8:g.39018162=, NC_000021.8:g.39018162T>C +PA166156143 rs28360521 PA128 CYP2D6 NC_000022.11:42132969 1 1 0 0 0 XR_952538.1:n.163+367C>T, NC_000022.11:g.42132969=, rs28360521, XR_952536.1:n.164-71T>C, NC_000022.11:g.42132969C=, 61186478, XM_011547750.1:c.-1641A>G, XM_011547750.1:c.-1641G>A, XR_952745.1:n.-1026A>G, XR_952745.1:n.-1026G>A, NC_000022.10:g.42528976=, NC_000022.10:g.42528976C=, XR_952537.1:n.164-71T>C, NC_000022.10:g.42528976C>A, XM_011529972.1:c.-2178A>G, XM_011529972.1:c.-2178G>A, XM_011529970.1:c.-2178A>G, XM_011529970.1:c.-2178G>A, XM_011547756.1:c.43-2711C>T, NC_000022.10:g.42528976C>G, XM_011529967.1:c.-1045-1133A>G, XM_011529967.1:c.-1045-1133G>A, XR_952539.1:n.40+779T>C, XR_952540.1:n.-805C>T, NG_008376.3:g.2023=, XM_011529971.1:c.-1636A>G, XM_011529971.1:c.-1636G>A, 28360521, XR_952538.1:n.163+367T>C, NG_008376.3:g.2023G=, NC_000022.10:g.42528976C>T, NW_004504305.1:g.55299T=, NG_008376.3:g.2023G>T, NW_009646208.1:g.18537T=, rs61186478, NC_000022.11:g.42132969C>T, XR_952536.1:n.164-71C>T, NC_000022.11:g.42132969C>G, NG_008376.4:g.2842=, NC_000022.11:g.42132969C>A, NW_009646208.1:g.18537T>C, NG_008376.3:g.2023G>A, XR_952537.1:n.164-71C>T, NT_187682.1:g.55315C>T, NG_008376.4:g.2842G>T, XM_011547756.1:c.43-2711T>C, XM_011529966.1:c.-2178A>G, XR_952539.1:n.40+779C>T, XM_011529966.1:c.-2178G>A, NG_008376.4:g.2842G>A, NG_008376.3:g.2023G>C, XM_011529968.1:c.-2178A>G, XM_011529968.1:c.-2178G>A, XM_011529969.1:c.-1636A>G, XM_011529969.1:c.-1636G>A, NG_008376.4:g.2842G>C, NW_004504305.1:g.55299T>C, NT_187682.1:g.55315C=, XR_952540.1:n.-805T>C +PA166177409 rs28362380 PA31897,PA164726003 ODC1,SNORA80B NC_000002.12:10446654 1 0 0 0 0 NC_000002.12:g.10446654=, rs28362380, NC_000002.12:g.10446654T>C, NC_000002.11:g.10586780=, 386574564, NC_000002.11:g.10586780T>C, NG_012105.1:g.6674A>G, 28362380, NG_012105.1:g.6674= +PA166159897 rs28362491 PA248 NFKB1 NC_000004.12:102500998_102501005 2 0 0 0 0 28720239, NC_000004.12:g.102500998_102501005=, rs28362491, NC_000004.11:g.103422155_103422162=, NG_050628.1:g.4670_4673ATTG[1], 28362491, NG_050628.1:g.4670_4677=, NC_000004.11:g.103422155_103422158ATTG[1], 373434789, 59554545, NC_000004.12:g.102500998_102501001ATTG[1], 36226653, 145284614 +PA166186212 rs28362731 PA24918 AQP1 NC_000007.14:30922175 4 1 0 0 0 NC_000007.14:g.30922175G>A, NC_000007.13:g.30961790G>A, NG_007475.2:g.73782G>A, NP_932766.1:p.Gly165=, NP_932766.1:p.Gly165Asp, 28362731, NG_007475.2:g.73782=, NC_000007.14:g.30922175=, rs28362731, NC_000007.13:g.30961790= +PA166156890 rs28363170 PA311 SLC6A3 NC_000005.10:1393825 6 4 0 0 0 rs28363170, NG_015885.1:g.56681_56682insACTGGAGCGTGTACTACCCCAGGACGCATGCAGGGCCCCC, NC_000005.10:g.1393746_1393824=, NG_015885.1:g.56644_56683dup, NM_001044.4:c.*987_*988insACTGGAGCGTGTACTACCCCAGGACGCATGCAGGGCCCCC, NC_000005.9:g.1393862_1393863insGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT, 28363170, NC_000005.9:g.1393861_1393939=, NG_015885.1:g.56605_56683=, NT_187547.1:g.120261_120262insACTGGAGCGTGTACTACCCCAGGACGCATGCAGGGCCCCC, NC_000005.10:g.1393785_1393824dup, NC_000005.10:g.1393747_1393748insGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT, NC_000005.9:g.1393900_1393939dup +PA166155126 rs28364006 PA244 ABCC1 NC_000016.10:16134392 1 1 0 0 0 XP_011520799.1:p.Thr1329Ala, NC_000016.10:g.16134392=, XM_005255328.1:c.3871A>G, NT_187607.1:g.1792283A>G, NG_028268.1:g.189816A>G, XP_005255384.1:p.Thr1295Ala, XP_005255386.1:p.Thr1278Ala, NP_004987.2:p.Thr1337=, rs28364006, NC_000016.9:g.16228249=, XM_005255329.1:c.3832A>G, NC_000016.9:g.16228249A>G, NG_028268.2:g.189816A>G, XP_005255383.1:p.Thr1347Ala, XP_011520800.1:p.Thr1306Ala, 28364006, NG_028268.1:g.189816=, XM_011522498.1:c.3916A>G, NC_000016.10:g.16134392A>G, NP_004987.2:p.Thr1337Ala, NM_004996.3:c.4009A>G, XM_011522497.1:c.3985A>G, XP_005255385.1:p.Thr1291Ala, 45544333, NG_028268.2:g.189816=, XM_005255326.1:c.4039A>G, XM_005255327.1:c.3883A>G, rs45544333 +PA166155259 rs28364032 PA26874 CRHR1 NC_000017.11:45834976 1 1 0 0 0 45579042, XM_005257060.1:c.*212G>A, NG_009902.1:g.55715=, NC_000017.11:g.45834976G>A, NM_001303016.1:c.*163G>A, NM_004382.4:c.*212G>A, NT_167251.1:g.955167C>T, NM_001145148.1:c.*212G>A, rs115630041, rs45579042, 116924946, NM_001303018.1:c.*212G>A, NM_001256299.2:c.*212G>A, NT_167251.2:g.953174C>T, NT_187663.1:g.537098G>A, rs116924946, NM_001303020.1:c.*212G>A, NC_000017.10:g.43912342=, rs28364032, 115630041, NM_001145146.1:c.*212G>A, NM_001145147.1:c.*212G>A, NG_009902.1:g.55715G>A, NC_000017.10:g.43912342G>A, 28364032, NC_000017.11:g.45834976= +PA166155470 rs28364072 PA28058 FCER2 NC_000019.10:7690399 4 0 0 0 0 rs57282274, rs28364072, NG_029554.1:g.16748T>C, 45446794, NC_000019.9:g.7755285A>G, XR_246667.1:n.823+7T>C, NG_029554.1:g.16748T>A, NM_001207019.2:c.618+7T>C, XM_005272462.3:c.621+7T>C, NC_000019.10:g.7690399A>T, XR_246668.1:n.838+7T>C, 28364072, NC_000019.9:g.7755285=, XM_005272462.1:c.621+7T>C, rs45446794, 57282274, NC_000019.9:g.7755285A>T, NG_029554.1:g.16748=, NC_000019.10:g.7690399=, NC_000019.10:g.7690399A>G, NM_001220500.1:c.621+7T>C, NM_002002.4:c.621+7T>C +PA166156676 rs28365062 PA361 UGT2B7 NC_000004.12:69098553 12 2 0 0 0 XM_005265702.2:c.-13A>G, XM_011532231.1:c.-13A>G, rs28365062, XM_011532230.1:c.735A>G, NC_000004.12:g.69098553=, NC_000004.12:g.69098553A>T, NM_001074.2:c.735A>G, 58136729, 28365062, XM_005265702.1:c.-13A>G, NC_000004.11:g.69964271A>G, NC_000004.11:g.69964271=, NC_000004.11:g.69964271A>T, NP_001065.2:p.Thr245=, NC_000004.12:g.69098553A>G, XM_011532229.1:c.735A>G, XP_011530531.1:p.Thr245=, XP_011530532.1:p.Thr245=, rs58136729 +PA166156677 rs28365063 PA361 UGT2B7 NC_000004.12:69096892 8 2 0 0 0 rs28365063, NC_000004.12:g.69096892A>G, rs60754346, NM_001074.2:c.372A>G, XM_011532231.1:c.-26-1648A>G, XM_011532229.1:c.372A>G, XM_005265702.1:c.-26-1648A>G, XM_011532230.1:c.372A>G, XP_011530531.1:p.Arg124=, 45568039, NC_000004.11:g.69962610A>T, 28365063, 60754346, NP_001065.2:p.Arg124=, NC_000004.12:g.69096892=, NC_000004.12:g.69096892A>T, XP_011530532.1:p.Arg124=, NP_001065.2:p.Arg124Ser, XM_005265702.2:c.-26-1648A>G, NC_000004.11:g.69962610=, rs45568039, NC_000004.11:g.69962610A>G +PA166179067 rs283695 PA34892 RXRG NC_000001.11:165407262 1 0 0 0 0 NC_000001.11:g.165407262G>T, NC_000001.10:g.165376499G>C, NG_029517.1:g.43094C>A, NC_000001.10:g.165376499G>A, NG_029517.1:g.43094C>T, 17847950, NC_000001.10:g.165376499=, NG_029517.2:g.43094C>G, NG_029517.1:g.43094=, 403195, rs283695, NC_000001.10:g.165376499G>T, NG_029517.2:g.43094C>A, NC_000001.11:g.165407262G>A, 283695, 60840199, NC_000001.11:g.165407262=, NG_029517.2:g.43094C>T, NC_000001.11:g.165407262G>C, NG_029517.2:g.43094=, 17429186, NG_029517.1:g.43094C>G +PA166154175 rs28371685 PA126 CYP2C9 NC_000010.11:94981224 28 4 4 0 0 rs60219528, NC_000010.11:g.94981224=, rs28371685, XM_005269575.1:c.1003C>T, NM_000771.3:c.1003C>T, NP_000762.2:p.Arg335Trp, NG_008385.1:g.47567=, NG_008385.2:g.48067C>T, 28371685, 60219528, NP_000762.2:p.Arg335=, NC_000010.11:g.94981224C>T, NG_008385.1:g.47567C>T, NG_008385.2:g.48067=, NC_000010.10:g.96740981C>T, XP_005269632.1:p.Arg335Trp, NC_000010.10:g.96740981= +PA166154176 rs28371686 PA126 CYP2C9 NC_000010.11:94981301 25 5 5 0 0 NC_000010.10:g.96741058=, rs28371686, XP_005269632.1:p.Asp360Glu, 57527516, NC_000010.11:g.94981301=, NG_008385.2:g.48144C>A, NC_000010.11:g.94981301C>A, NG_008385.2:g.48144C>G, NG_008385.1:g.47644=, NC_000010.10:g.96741058C>G, 28371686, rs57527516, NG_008385.1:g.47644C>G, NC_000010.10:g.96741058C>A, NP_000762.2:p.Asp360=, NM_000771.3:c.1080C>G, XM_005269575.1:c.1080C>G, NG_008385.1:g.47644C>A, NG_008385.2:g.48144=, NC_000010.11:g.94981301C>G, NP_000762.2:p.Asp360Glu +PA166156144 rs28371696 PA128 CYP2D6 NC_000022.11:42130715 7 3 3 0 0 XR_952745.1:n.1234G>A, rs28371696, XM_011547750.1:c.37+582G>A, NG_008376.4:g.5096=, XP_011528268.1:p.Arg26His, XM_011529969.1:c.37+582G>A, NP_000097.3:p.Arg26=, XP_011528269.1:p.Arg26His, XM_005278354.1:c.-1477G>A, XM_011529970.1:c.77G>A, 28371696, NG_008376.4:g.5096G>A, XM_005278354.3:c.-1477G>A, XM_011529968.1:c.77G>A, XM_011529972.1:c.77G>A, XM_011548819.1:c.-1477G>A, NW_009646208.1:g.16281C>T, NP_001020332.2:p.Arg26His, NC_000022.10:g.42526717=, NG_008376.3:g.4277=, XM_011529971.1:c.37+582G>A, XM_011547751.1:c.-1137G>A, XM_011529966.1:c.77G>A, NW_004504305.1:g.53042C>T, NC_000022.11:g.42130715=, NM_000106.5:c.77G>A, XM_011547541.1:c.-1477G>A, XP_011528270.1:p.Arg26His, NC_000022.10:g.42526717C>T, XP_005278410.1:p.Arg26His, NP_000097.3:p.Arg26His, XR_952536.1:n.-1728C>T, NC_000022.11:g.42130715C>T, XR_952539.1:n.-1439C>T, XM_011529967.1:c.77G>A, XR_952537.1:n.-1728C>T, XP_011528274.1:p.Arg26His, XR_952538.1:n.-1728C>T, NG_008376.3:g.4277G>A, XR_430455.2:n.328+27C>T, NM_001025161.2:c.77G>A, NT_187682.1:g.53056C>T, XM_011547756.1:c.42+492C>T, XM_005278353.1:c.77G>A, XP_011528272.1:p.Arg26His +PA166156145 rs28371699 PA128 CYP2D6 NC_000022.11:42130482 1 0 0 0 0 NM_000106.5:c.180+130G>T, XM_011548819.1:c.-1244G>T, 71328651, XM_011529971.1:c.38-573G>T, NW_009646208.1:g.16048A=, XM_011529970.1:c.180+130G>T, XM_011529968.1:c.180+130G>T, XM_005278354.1:c.-1244T>G, NG_008376.3:g.4510G>T, NT_187682.1:g.52823A=, XM_011529966.1:c.180+130G>T, XM_011547751.1:c.-904G>T, NW_004504305.1:g.52809A=, NC_000022.11:g.42130482=, XM_011529972.1:c.180+130G>T, NM_001025161.2:c.180+130G>T, NG_008376.3:g.4510=, XM_011529967.1:c.180+130T>G, NG_008376.4:g.5329G>T, rs28371699, XM_011547756.1:c.42+259A>C, XM_011547756.1:c.42+259C>A, NW_004504305.1:g.52809A>C, XM_005278353.1:c.180+130T>G, NC_000022.11:g.42130482C>A, XM_005278354.3:c.-1244T>G, XM_011547750.1:c.38-573T>G, XM_011529969.1:c.38-573G>T, XR_952745.1:n.1337+130G>T, XM_011547541.1:c.-1244G>T, NM_000106.5:c.180+130T>G, XM_011548819.1:c.-1244T>G, NT_187682.1:g.52823A>C, XM_011547751.1:c.-904T>G, XM_011529970.1:c.180+130T>G, XM_011529971.1:c.38-573T>G, XM_011529968.1:c.180+130T>G, XM_011529966.1:c.180+130T>G, 28371699, XM_011529972.1:c.180+130T>G, NM_001025161.2:c.180+130T>G, NC_000022.11:g.42130482C=, XM_011529967.1:c.180+130G>T, XR_952539.1:n.-1672A>C, XR_952539.1:n.-1672C>A, XM_005278354.3:c.-1244G>T, NC_000022.10:g.42526484A>C, NW_009646208.1:g.16048A>C, NG_008376.4:g.5329=, XR_952538.1:n.-1961A>C, XR_952538.1:n.-1961C>A, XR_952537.1:n.-1961A>C, XR_952537.1:n.-1961C>A, NG_008376.3:g.4510G=, XM_011547750.1:c.38-573G>T, XM_011529969.1:c.38-573T>G, XR_430455.2:n.207-85A>C, XR_430455.2:n.207-85C>A, XR_952745.1:n.1337+130T>G, XM_011547541.1:c.-1244T>G, XR_952536.1:n.-1961A>C, XR_952536.1:n.-1961C>A +PA166156147 rs28371702 PA128 CYP2D6 NC_000022.11:42129950 1 0 0 0 0 XM_011529969.1:c.38-41T>G, XM_011547756.1:c.-85C=, XM_011529966.1:c.181-41T>G, XM_011529972.1:c.181-41G>T, 71328650, XM_011548819.1:c.-712G>T, NG_008376.3:g.5042T=, XR_430455.2:n.80A>C, NM_000106.5:c.181-41T>G, 28532243, NG_008376.3:g.5042=, NC_000022.11:g.42129950A=, XM_005278354.3:c.-712T>G, XM_005278353.1:c.181-41G>T, NC_000022.11:g.42129950A>T, XM_005278354.1:c.-712G>T, XM_011529971.1:c.38-41T>G, XM_011547541.1:c.-712T>G, XM_011529967.1:c.181-41T>G, XM_011547750.1:c.38-41T>G, 28371702, 58751303, XM_011529968.1:c.181-41G>T, XM_011547751.1:c.-372G>T, NM_001025161.2:c.181-41T>G, XM_011529972.1:c.181-41T>G, XM_011529970.1:c.181-41G>T, XR_952745.1:n.1338-41T>G, NW_009646208.1:g.15516C=, rs28532243, NG_008376.4:g.5861T>G, XM_011529966.1:c.181-41G>T, XM_011548819.1:c.-712T>G, NC_000022.10:g.42525952C>T, NM_000106.5:c.181-41G>T, XM_005278354.3:c.-712G>T, NW_004504305.1:g.52277C=, XM_011547756.1:c.-85C>A, rs71328650, NW_004504305.1:g.52277C>A, NC_000022.10:g.42525952C>A, NW_009646208.1:g.15516C>A, XM_011529969.1:c.38-41G>T, XM_011529971.1:c.38-41G>T, XM_011547541.1:c.-712G>T, NC_000022.11:g.42129950=, NT_187682.1:g.52291C=, XM_011529967.1:c.181-41G>T, NG_008376.4:g.5861=, XM_011547750.1:c.38-41G>T, XR_430455.2:n.80A=, rs58751303, NG_008376.3:g.5042T>G, NT_187682.1:g.52291C>A, XM_011529968.1:c.181-41T>G, XM_011547751.1:c.-372T>G, NM_001025161.2:c.181-41G>T, NC_000022.11:g.42129950A>C, NG_008376.3:g.5042T>A, rs28371702, XM_011529970.1:c.181-41T>G, XR_952745.1:n.1338-41G>T, NG_008376.4:g.5861T>A +PA166156148 rs28371703 PA128 CYP2D6 NC_000022.11:42129819 443 76 76 0 0 XP_011528273.1:p.Ala43Asp, NW_009646208.1:g.15385G>T, NG_008376.3:g.5173=, XP_011528271.1:p.Ala43Asp, XP_011546052.1:p.Ala43Asp, NP_001020332.2:p.Leu91Met, XM_011547756.1:c.-216G>T, XM_011547541.1:c.-581C>A, XM_011547751.1:c.-241C>A, NW_004504305.1:g.52146G>T, XM_011529968.1:c.271C>A, XM_011529967.1:c.271C>A, NM_001025161.2:c.271C>A, XM_005278354.1:c.-581C>A, XM_011547750.1:c.128C>A, NC_000022.10:g.42525821G>T, NC_000022.11:g.42129819G>T, XM_005278353.1:c.271C>A, XR_430455.2:n.-52G>T, NT_187682.1:g.52160G>T, NC_000022.11:g.42129819=, NM_000106.5:c.271C>A, NP_000097.3:p.Leu91=, XP_011528274.1:p.Leu91Met, XM_005278354.3:c.-581C>A, NG_008376.3:g.5173C>A, XM_011529972.1:c.271C>A, XP_011528272.1:p.Leu91Met, 28371703, XM_011529966.1:c.271C>A, XM_011529970.1:c.271C>A, NG_008376.4:g.5992C>A, XP_011528270.1:p.Leu91Met, NG_008376.4:g.5992=, XP_005278410.1:p.Leu91Met, NP_000097.3:p.Leu91Met, XM_011529969.1:c.128C>A, XP_011528268.1:p.Leu91Met, XR_952745.1:n.1428C>A, rs28371703, XP_011528269.1:p.Leu91Met, XM_011529971.1:c.128C>A, XM_011548819.1:c.-581C>A, NC_000022.10:g.42525821= +PA166156149 rs28371704 PA128 CYP2D6 NC_000022.11:42129809 442 76 76 0 0 NG_008376.3:g.5183=, NP_000097.3:p.His94Leu, NP_001020332.2:p.His94Arg, XM_011547756.1:c.-226T>C, XM_011529969.1:c.138A>G, XR_952745.1:n.1438A>G, NM_000106.5:c.281A>G, XP_005278410.1:p.His94Arg, NM_001025161.2:c.281A>G, XM_011529966.1:c.281A>G, XM_005278354.1:c.-571A>G, XP_011528273.1:p.Pro46=, NG_008376.3:g.5183A>T, NC_000022.11:g.42129809=, 28371704, XM_011529971.1:c.138A>G, XP_011528274.1:p.His94Arg, XM_011548819.1:c.-571A>G, NW_004504305.1:g.52136T>C, XM_011529968.1:c.281A>G, NW_009646208.1:g.15375T>C, XM_011529970.1:c.281A>G, NG_008376.4:g.6002A>G, XP_011528270.1:p.His94Arg, XM_011547541.1:c.-571A>G, XP_011528272.1:p.His94Arg, XP_011546052.1:p.Pro46=, XM_011547751.1:c.-231A>G, NP_000097.3:p.His94Arg, XM_011547750.1:c.138A>G, XM_005278354.3:c.-571A>G, XM_011529967.1:c.281A>G, XP_011528271.1:p.Pro46=, NG_008376.4:g.6002A>T, XM_005278353.1:c.281A>G, NG_008376.3:g.5183A>G, XR_430455.2:n.-62T>C, NC_000022.11:g.42129809T>A, NC_000022.11:g.42129809T>C, NG_008376.4:g.6002=, XM_011529972.1:c.281A>G, NP_000097.3:p.His94=, NT_187682.1:g.52150T>C, XP_011528268.1:p.His94Arg, NC_000022.10:g.42525811T>A, NC_000022.10:g.42525811T>C, XP_011528269.1:p.His94Arg, rs28371704, NC_000022.10:g.42525811= +PA166156151 rs28371706 PA128 CYP2D6 NC_000022.11:42129770 68 19 18 0 0 XM_011547751.1:c.-192C>T, NC_000022.11:g.42129770G>T, XP_011546052.1:p.His59=, XM_011529966.1:c.320C>T, 587777915, NP_000097.3:p.Thr107Asn, XP_011528270.1:p.Thr107Ile, NP_001020332.2:p.Thr107Ile, rs587777915, XM_011529970.1:c.320C>T, XM_011548819.1:c.-532C>T, NG_008376.4:g.6041C>A, XM_011529971.1:c.177C>T, XP_011528273.1:p.His59=, XP_011528274.1:p.Thr107Ile, NG_008376.4:g.6041C>T, XR_430455.2:n.-101G>A, 28371706, NG_008376.3:g.5222C>A, XM_005278354.1:c.-532C>T, NW_004504305.1:g.52097G>A, NC_000022.10:g.42525772G>T, NM_001025161.2:c.320C>T, NT_187682.1:g.52111G>A, NM_000106.5:c.320C>T, XP_011528268.1:p.Thr107Ile, NC_000022.10:g.42525772=, NP_000097.3:p.Thr107Ile, XM_011529969.1:c.177C>T, XM_011547750.1:c.177C>T, NG_008376.3:g.5222C>T, NG_008376.3:g.5222=, XM_011529972.1:c.320C>T, rs59604033, XM_011529967.1:c.320C>T, NW_009646208.1:g.15336G>A, NC_000022.11:g.42129770=, XM_005278353.1:c.320C>T, XP_005278410.1:p.Thr107Ile, NC_000022.10:g.42525772G>A, XM_005278354.3:c.-532C>T, XP_011528269.1:p.Thr107Ile, XM_011529968.1:c.320C>T, NP_000097.3:p.Thr107=, NG_008376.4:g.6041=, XP_011528272.1:p.Thr107Ile, XM_011547541.1:c.-532C>T, rs28371706, 59604033, XM_011547756.1:c.-265G>A, NC_000022.11:g.42129770G>A, XP_011528271.1:p.His59=, XR_952745.1:n.1477C>T +PA166156152 rs28371710 PA128 CYP2D6 NC_000022.11:42129075 9 4 4 0 0 XP_011528268.1:p.Glu155Lys, NP_000097.3:p.Glu155Lys, NG_008376.4:g.6736=, NM_000106.5:c.463G>A, NT_187682.1:g.51416C>T, XP_011528273.1:p.Arg107Gln, NG_008376.3:g.5917G>A, XM_005278354.1:c.164G>A, XM_011529966.1:c.463G>A, XM_011529969.1:c.320G>A, XR_952745.1:n.1620G>A, XP_011547121.1:p.Arg55Gln, NC_000022.11:g.42129075=, XM_011529971.1:c.320G>A, XM_011547541.1:c.164G>A, NC_000022.11:g.42129075C>T, XM_011529972.1:c.463G>A, 28371710, XP_011528271.1:p.Arg107Gln, XP_011528274.1:p.Glu155Lys, rs28371710, XM_011529968.1:c.463G>A, XP_011528270.1:p.Glu155Lys, NG_008376.4:g.6736G>A, NW_004504305.1:g.51402C>T, NM_001025161.2:c.353-131G>A, XP_011546053.1:p.Glu83Lys, NW_009646208.1:g.14641C>T, XP_011545843.1:p.Arg55Gln, XM_011529970.1:c.353-131G>A, NC_000022.10:g.42525077=, NP_000097.3:p.Glu155=, XM_011547750.1:c.320G>A, XM_011547756.1:c.-960C>T, XM_011529967.1:c.463G>A, XM_011547751.1:c.247G>A, XM_011548819.1:c.164G>A, XM_005278353.1:c.363-132G>A, XP_011546052.1:p.Arg107Gln, XR_430455.2:n.-796C>T, XP_005278411.1:p.Arg55Gln, NC_000022.10:g.42525077C>T, NG_008376.3:g.5917=, XM_005278354.3:c.164G>A, XP_011528269.1:p.Glu155Lys +PA166156153 rs28371717 PA128 CYP2D6 NC_000022.11:42128308 5 1 1 0 0 XP_011528270.1:p.Ala237Ser, NG_008376.4:g.7503G>C, rs386574773, 28371717, XP_011528271.1:p.Ala189Ser, NM_000106.5:c.709G>T, NP_001020332.2:p.Ala186Ser, XM_011529966.1:c.709G>T, XP_005278411.1:p.Ala137Ser, XM_011529972.1:c.709G>T, NG_008376.3:g.6684=, XM_011547756.1:c.-1727C>A, NG_008376.3:g.6684G>C, XM_011548819.1:c.409G>T, NG_008376.4:g.7503=, XP_011528274.1:p.Ala237Ser, NC_000022.11:g.42128308=, NT_187682.1:g.50649C>A, XP_011528268.1:p.Ala237Ser, XP_011545843.1:p.Ala137Ser, NP_000097.3:p.Ala237Ser, XM_011547541.1:c.409G>T, XM_011529969.1:c.565G>T, XM_005278354.1:c.409G>T, XM_011529971.1:c.565G>T, XM_011547750.1:c.565G>T, XM_011529967.1:c.709G>T, NG_008376.3:g.6684G>T, NW_009646208.1:g.13874C>A, NC_000022.11:g.42128308C>A, rs28371717, NW_004504305.1:g.50635C>A, XM_005278353.1:c.565G>T, XP_011528272.1:p.Ala186Ser, XP_011528273.1:p.Ala189Ser, NM_001025161.2:c.556G>T, NC_000022.11:g.42128308C>G, XP_011528269.1:p.Ala237Ser, XP_011547121.1:p.Ala137Ser, XP_011546052.1:p.Ala189Ser, XM_011547751.1:c.493G>T, XR_952745.1:n.1866G>T, NP_000097.3:p.Ala237Pro, NC_000022.10:g.42524310=, NC_000022.10:g.42524310C>G, XM_005278354.3:c.409G>T, XP_005278410.1:p.Ala189Ser, XR_430455.2:n.-1563C>A, NP_000097.3:p.Ala237=, NC_000022.10:g.42524310C>A, 386574773, XM_011529968.1:c.709G>T, XM_011529970.1:c.556G>T, NG_008376.4:g.7503G>T, XP_011546053.1:p.Ala165Ser +PA166156155 rs28371725 PA128 CYP2D6 NC_000022.11:42127803 149 26 26 0 0 NT_187682.1:g.50144C>T, XM_011547751.1:c.769+39G>A, XM_011547541.1:c.724G>A, XM_011547750.1:c.841+39G>A, XM_005278354.3:c.685+39G>A, 587777916, NG_008376.3:g.7189G>A, XM_011529969.1:c.841+39G>A, NM_001025161.2:c.832+39G>A, XM_005278353.1:c.841+39G>A, XM_011529968.1:c.985+39G>A, rs587777916, 57124011, XR_952745.1:n.2001-169G>A, NC_000022.10:g.42523805C>T, XM_005278354.1:c.685+39G>A, NW_009646208.1:g.13369C>T, NC_000022.10:g.42523805=, XP_011545843.1:p.Glu242Lys, rs57124011, XM_011529972.1:c.844-169G>A, NG_008376.3:g.7189=, XM_011529971.1:c.841+39G>A, NC_000022.11:g.42127803C>T, NM_000106.5:c.985+39G>A, XM_011548819.1:c.724G>A, XM_011529967.1:c.985+39G>A, 28371725, NW_004504305.1:g.50130C>T, XM_011529966.1:c.985+39G>A, NG_008376.4:g.8008=, NG_008376.4:g.8008G>A, XP_011547121.1:p.Glu242Lys, rs28371725, XM_011529970.1:c.832+39G>A, NC_000022.11:g.42127803= +PA166156211 rs28371733 PA128 CYP2D6 NC_000022.11:42126914 3 1 1 0 0 XM_011529970.1:c.1099G>A, NC_000022.11:g.42126914C>G, XM_011529971.1:c.1108G>A, XM_011547751.1:c.1036G>A, NW_009646208.1:g.12480C>T, NP_000097.3:p.Glu418=, 28371733, XM_005278354.3:c.952G>A, XP_011528273.1:p.Glu370Lys, NC_000022.11:g.42126914=, NM_000106.5:c.1252G>A, XP_011528272.1:p.Glu367Lys, NP_000097.3:p.Glu418Gln, NW_004504305.1:g.49241C>T, XM_011529969.1:c.1108G>A, XR_952745.1:n.2267G>A, XM_005278353.1:c.1108G>A, NC_000022.11:g.42126914C>T, XP_005278411.1:p.Glu318Lys, rs28371733, NG_008376.4:g.8897=, XP_011528269.1:p.Glu418Lys, XP_005278410.1:p.Glu370Lys, NP_001020332.2:p.Glu367Lys, XM_011529968.1:c.1252G>A, XP_011528271.1:p.Glu370Lys, XM_011529966.1:c.1252G>A, XM_011529967.1:c.1252G>A, XP_011546052.1:p.Glu370Lys, NM_001025161.2:c.1099G>A, NC_000022.10:g.42522916C>G, NC_000022.10:g.42522916=, NG_008376.4:g.8897G>C, NG_008376.3:g.8078G>A, XP_011528270.1:p.Glu418Lys, NG_008376.4:g.8897G>A, NG_008376.3:g.8078G>C, NT_187682.1:g.49255C>T, XP_011528268.1:p.Glu418Lys, NP_000097.3:p.Glu418Lys, XM_011547750.1:c.1108G>A, 149157808, NC_000022.10:g.42522916C>T, NG_008376.3:g.8078=, XM_005278354.1:c.952G>A, XP_011546053.1:p.Glu346Lys +PA166178876 rs28371735 PA128 CYP2D6 NC_000022.11:42126636 455 79 79 0 0 NP_000097.3:p.His478=, NP_000097.3:p.His478Asn, NG_008376.4:g.9175C>A, NC_000022.10:g.42522638G>A, NC_000022.11:g.42126636G>A, NG_008376.4:g.9175=, NC_000022.11:g.42126636=, NC_000022.10:g.42522638=, 28371735, NC_000022.10:g.42522638G>T, NP_000097.3:p.His478Tyr, NC_000022.11:g.42126636G>T, NG_008376.3:g.8356C>A, NG_008376.3:g.8356=, 386574774, NG_008376.3:g.8356C>T, rs28371735, NG_008376.4:g.9175C>T +PA166178884 rs28371736 PA128 CYP2D6 NC_000022.11:42126619 455 79 79 0 0 NC_000022.10:g.42522621G>C, NC_000022.11:g.42126619=, NG_008376.3:g.8373C>G, 28371736, 768727668, NC_000022.10:g.42522621=, NG_008376.4:g.9192C>G, NG_008376.3:g.8373C>T, NC_000022.11:g.42126619G>A, NC_000022.10:g.42522621G>A, NG_008376.4:g.9192=, NP_000097.3:p.Phe483Leu, NG_008376.3:g.8373=, NC_000022.11:g.42126619G>C, NP_000097.3:p.Phe483=, rs28371736, NG_008376.4:g.9192C>T +PA166156160 rs28371738 PA128 CYP2D6 NC_000022.11:42126390 1 0 0 0 0 NG_008376.3:g.8602C>G, NC_000022.10:g.42522392G>C, NC_000022.10:g.42522392G>A, NM_001025161.2:c.*184C>T, NG_008376.4:g.9421C>T, XM_011529971.1:c.*184C>T, XM_011547750.1:c.*184T>C, NG_008376.3:g.8602C>T, XM_011547751.1:c.*184T>C, NM_000106.5:c.*184C>T, XM_011529970.1:c.1299+226T>C, NM_001025161.2:c.*75+109T>C, XM_011529967.1:c.1452+226T>C, XM_011529966.1:c.1452+226C>T, XM_011529969.1:c.1308+226C>T, rs28371738, NC_000022.11:g.42126390G>A, NM_000106.5:c.*75+109T>C, NC_000022.11:g.42126390G>C, XM_005278354.3:c.*184T>C, NW_003315971.2:g.?T>C, XM_005278354.1:c.*184T>C, XM_005278353.1:c.*184T>C, NC_000022.10:g.42522392G=, XR_952745.1:n.2693T>C, NW_004504305.1:g.48717A>G, NG_008376.4:g.9421=, NG_008376.3:g.8602=, NG_008376.4:g.9421C>G, NW_009646207.1:g.?C>T, XM_011529968.1:c.1452+226T>C, rs28729165, NT_187682.1:g.48731G=, NM_001025161.2:c.*184T>C, 28371738, NW_009646208.1:g.11956A>G, XM_011529971.1:c.*184T>C, XM_011547750.1:c.*184C>T, XM_011547751.1:c.*184C>T, NM_000106.5:c.*184T>C, XM_011529970.1:c.1299+226C>T, NM_001025161.2:c.*75+109C>T, NW_009646208.1:g.11956A=, XM_011529967.1:c.1452+226C>T, XM_011529966.1:c.1452+226T>C, XM_011529969.1:c.1308+226T>C, NM_000106.5:c.*75+109C>T, NC_000022.10:g.42522392=, XM_005278354.3:c.*184C>T, NW_004504305.1:g.48717A=, NW_003315971.2:g.?C>T, XM_005278354.1:c.*184C>T, XM_005278353.1:c.*184C>T, XR_952745.1:n.2693C>T, NG_008376.3:g.8602C=, 28729165, NC_000022.11:g.42126390G=, NT_187682.1:g.48731G>A, NW_009646207.1:g.?T>C, XM_011529968.1:c.1452+226C>T, NC_000022.11:g.42126390= +PA166157481 rs28371759 PA130 CYP3A4 NC_000007.14:99764003 37 4 3 0 0 60608883, NP_001189784.1:p.Leu292Pro, NC_000007.14:g.99764003=, NG_054907.1:g.473A>G, XM_011515842.1:c.875T>C, rs386574775, 28371759, NP_059488.2:p.Leu293Pro, NC_000007.14:g.99764003A>G, XP_011514143.1:p.Leu293Pro, NM_017460.5:c.878T>C, NG_008421.1:g.25183T>C, NG_008421.1:g.25183=, 386574775, rs60608883, NG_054907.1:g.473=, XP_011514144.1:p.Leu292Pro, NP_059488.2:p.Leu293=, NC_000007.13:g.99361626=, rs28371759, XM_011515841.1:c.878T>C, NC_000007.13:g.99361626A>G, NM_001202855.2:c.875T>C +PA166155127 rs28374453 PA166123718,PA343 NPIPB8,SULT1A1 NC_000016.10:28606092 3 3 0 0 0 NM_001310136.1:c.121-139190T>C, NG_028128.1:g.22454T>G, NP_803566.1:p.Phe247Leu, NC_000016.10:g.28606092=, NP_803880.1:p.Phe169Leu, NP_803880.1:p.Phe169=, NC_000016.9:g.28617413A>G, NM_177534.2:c.739T>C, NC_000016.9:g.28617413=, NP_803880.1:p.Phe169Val, NM_177530.2:c.739T>C, NM_177536.3:c.505T>C, NC_000016.10:g.28606092A>G, NC_000016.10:g.28606092A>C, NG_028128.1:g.22454=, NP_803878.1:p.Phe247Leu, NM_001055.3:c.739T>C, NP_001046.2:p.Phe247Leu, NP_803565.1:p.Phe247Leu, XP_005255579.1:p.Phe247Leu, 28374453, NC_000016.9:g.28617413A>C, XM_005255522.1:c.739T>C, rs28374453, NM_177529.2:c.739T>C, NG_028128.1:g.22454T>C +PA166195401 rs28375964 PA361 UGT2B7 NC_000004.12:69098070 1 0 0 0 0 28375964, 60410123, NC_000004.12:g.69098070C>T, NC_000004.11:g.69963788=, rs28375964, NC_000004.12:g.69098070=, NC_000004.11:g.69963788C>T +PA166232961 rs28379954 PA31591 NFIB NC_000009.12:14163908 6 1 0 0 0 NC_000009.12:g.14163908=, NC_000009.12:g.14163908T>C, rs28379954, 28379954, NC_000009.11:g.14163907=, NC_000009.11:g.14163907T>C +PA166157484 rs28383479 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99660516 2 0 0 0 0 XM_011515909.1:c.806-8579C>T, NP_000768.1:p.Ala337Thr, XM_005250170.1:c.670G>A, XP_005250229.1:p.Ala224Thr, XM_011515843.1:c.670G>A, XP_005250230.1:p.Ala157Thr, NG_007938.1:g.24483=, NM_001291829.1:c.670G>A, XM_011515847.1:c.469G>A, NR_033810.1:n.2696G>A, NC_000007.14:g.99660516C>T, XM_005250198.1:c.806-16688C>T, NC_000007.14:g.99660516=, XP_005250227.1:p.Ala224Thr, XP_011514148.1:p.Ala157Thr, rs28383479, XP_011514147.1:p.Ala157Thr, NR_033811.1:n.1360G>A, NP_001278758.1:p.Ala224Thr, NG_007938.1:g.24483G>A, XP_005250226.1:p.Ala327Thr, XP_011514145.1:p.Ala224Thr, NP_000768.1:p.Ala337=, NR_033807.2:n.2743G>A, NM_000777.4:c.1009G>A, XP_011514146.1:p.Ala224Thr, NP_001278759.1:p.Ala327Thr, XP_005250228.1:p.Ala224Thr, NC_000007.13:g.99258139=, XM_005250172.1:c.670G>A, 28383479, NG_007938.2:g.24483G>A, NR_033808.1:n.1611G>A, NR_033812.1:n.1252G>A, XP_006715922.1:p.Ala337Thr, XP_011514149.1:p.Ala157Thr, XM_005250169.1:c.979G>A, XM_011515845.1:c.469G>A, NM_001291830.1:c.979G>A, XM_005250171.1:c.670G>A, XR_927402.1:n.1466+36336C>T, NG_007938.2:g.24483=, NC_000007.13:g.99258139C>T, NR_033809.1:n.1371G>A, XM_011515844.1:c.670G>A, XM_011515846.1:c.469G>A, XM_005250173.1:c.469G>A, XM_006715859.2:c.1009G>A +PA166181222 rs28386840 NC_000016.10:55652906 8 1 0 0 0 NC_000016.9:g.55686818=, NG_016969.1:g.2277T>C, NC_000016.10:g.55652906=, 28386840, NC_000016.9:g.55686818T>C, rs28386840, NC_000016.9:g.55686818T>A, NG_016969.1:g.2277=, NC_000016.10:g.55652906T>A, NC_000016.10:g.55652906T>C, NG_016969.1:g.2277T>A +PA166156004 rs2838956 PA327 SLC19A1 NC_000021.9:45525110 3 1 0 0 0 XM_011529700.1:c.1293+707T>C, NG_028278.2:g.43034=, NC_000021.9:g.45525110A>G, XM_011529703.1:c.1293+707T>C, rs60159565, XM_011529706.1:c.1155+707T>C, NC_000021.9:g.45525110A>C, XM_011529708.1:c.1293+707T>C, NG_028278.2:g.43034T>C, NG_028278.2:g.43034T>G, NC_000021.9:g.45525110=, XM_011529702.1:c.1293+707T>C, XM_011529696.1:c.1584+707T>C, XM_011529709.1:c.939+707T>C, NC_000021.9:g.45525110A>T, NM_194255.2:c.1293+707T>C, NC_000021.8:g.46945024A>C, XM_011529710.1:c.939+707T>C, XM_011529705.1:c.1584+707T>C, 2838956, XM_011529699.1:c.1320+707T>C, XM_011529707.1:c.1584+707T>C, NC_000021.8:g.46945024A>G, NM_001205206.1:c.1293+707T>C, NM_001205207.1:c.1173+707T>C, NC_000021.8:g.46945024A>T, XM_005261163.1:c.1293+707T>C, XM_005261164.1:c.939+707T>C, NC_000021.8:g.46945024=, NG_028278.1:g.22362T>C, XM_011529698.1:c.1359+707T>C, XM_005261164.2:c.939+707T>C, 60159565, NG_028278.2:g.43034T>A, XM_011529704.1:c.1293+707T>C, XM_011529697.1:c.1584+707T>C, rs2838956, XM_011529701.1:c.1293+707T>C +PA166170682 rs2838958 PA327 SLC19A1 NC_000021.9:45528653 5 1 0 0 0 rs2838958, 3788195, NC_000021.9:g.45528653=, NC_000021.8:g.46948567=, NG_028278.2:g.39491C>G, 59426048, NC_000021.8:g.46948567G>A, NG_028278.2:g.39491=, NC_000021.9:g.45528653G>C, NC_000021.8:g.46948567G>C, 2838958, NG_028278.2:g.39491C>T, NC_000021.9:g.45528653G>A +PA166303841 rs2839629 PA33354 PKNOX1 NC_000021.9:43032912 4 0 0 0 0 rs2839629, NC_000021.9:g.43032912G>C, 2839629, NC_000021.9:g.43032912=, 56533768, NC_000021.8:g.44453022=, NC_000021.9:g.43032912G>A, 60091962, NC_000021.8:g.44453022G>C, NC_000021.8:g.44453022G>A, NC_000021.9:g.43032912G>T, 3746944, NC_000021.8:g.44453022G>T +PA166205801 rs2839669 PA28508 GAD2 NC_000010.11:26214873 1 0 0 0 0 NC_000010.11:g.26214873=, 3781119, NC_000010.11:g.26214873C>T, rs2839669, NC_000010.10:g.26503802C>T, 2839669, NC_000010.10:g.26503802= +PA166205821 rs2839670 PA28508 GAD2 NC_000010.11:26215411 1 0 0 0 0 NC_000010.10:g.26504340C>A, rs2839670, 2839670, 3758445, NC_000010.10:g.26504340=, 57222799, NC_000010.11:g.26215411C>A, 52805613, NC_000010.11:g.26215411= +PA166154388 rs2839698 PA29091,PA164722965,PA30953 H19,MIR675,MRPL23 NC_000011.10:1997623 1 1 0 0 0 NG_016165.1:g.5213C>T, NR_131223.1:n.253C>T, XM_011520273.1:c.498-13918G>A, NG_016165.1:g.5213=, NC_000011.10:g.1997623G>A, NC_000011.9:g.2018853=, rs52828411, NC_000011.10:g.1997623G>C, NR_030533.1:n.-792C>T, XM_011520274.1:c.492-13918G>A, NG_016165.1:g.5213C>G, XM_011520275.1:c.498-13918G>A, 52828411, NG_045220.1:g.10216G>C, NG_045220.1:g.10216G>A, NG_045220.1:g.10216=, rs2839698, NR_131224.1:n.250-1202C>T, NC_000011.9:g.2018853G>A, 2839698, NC_000011.10:g.1997623=, NR_002196.2:n.253C>T, NC_000011.9:g.2018853G>C +PA166155471 rs28399433 PA121 CYP2A6 NC_000019.10:40850474 70 14 9 0 0 NM_000762.5:c.-48T>G, NG_055456.1:g.149A>G, NG_055456.1:g.149A>C, NC_000019.9:g.41356379A>C, rs28399433, NG_008377.1:g.4974=, NG_055456.1:g.149=, NG_008377.1:g.4974T>C, 386508632, NC_000019.10:g.40850474=, NC_000019.9:g.41356379A>G, NC_000019.10:g.40850474A>T, NG_008377.1:g.4974T>A, XM_005258568.1:c.-48T>G, NG_008377.1:g.4974T>G, rs58538938, rs386508632, 58538938, NG_055456.1:g.149A>T, NC_000019.10:g.40850474A>G, NC_000019.9:g.41356379A>T, NC_000019.10:g.40850474A>C, 28399433, NC_000019.9:g.41356379= +PA166155472 rs28399434 PA121 CYP2A6 NC_000019.10:40850414 2 1 1 0 0 NC_000019.10:g.40850414=, XM_005258568.1:c.13G>A, rs28399434, NG_008377.1:g.5034=, NM_000762.5:c.13G>A, NP_000753.3:p.Gly5Arg, 58150319, NP_000753.3:p.Gly5=, NG_055456.1:g.89=, NG_008377.1:g.5034G>A, 28399434, NC_000019.9:g.41356319=, XP_005258625.1:p.Gly5Arg, NG_055456.1:g.89C>T, NC_000019.10:g.40850414C>T, NC_000019.9:g.41356319C>T, rs58150319 +PA166155473 rs28399435 PA121 CYP2A6 NC_000019.10:40850341 2 1 1 0 0 XM_005258568.1:c.86G>A, NC_000019.9:g.41356246=, rs28399435, NC_000019.10:g.40850341C>T, NC_000019.9:g.41356246C>A, rs57299031, NC_000019.10:g.40850341=, XP_005258625.1:p.Ser29Asn, NG_008377.1:g.5107G>T, NP_000753.3:p.Ser29=, 28399435, NG_055456.1:g.16C>A, NP_000753.3:p.Ser29Ile, NM_000762.5:c.86G>A, NG_055456.1:g.16C>T, NG_008377.1:g.5107=, NC_000019.9:g.41356246C>T, NG_008377.1:g.5107G>A, 57299031, NC_000019.10:g.40850341C>A, NG_055456.1:g.16=, NP_000753.3:p.Ser29Asn +PA166279682 rs28399440 PA121 CYP2A6 NC_000019.10:40848755 6 2 2 0 0 NG_008377.1:g.6693=, NC_000019.10:g.40848755=, NP_000753.3:p.Phe118=, 58229301, NP_000753.3:p.Phe118Leu, NC_000019.9:g.41354660A>G, rs28399440, NC_000019.9:g.41354660=, NC_000019.10:g.40848755A>G, 28399440, NG_008377.1:g.6693T>C +PA166155474 rs28399445 PA121 CYP2A6 NC_000019.10:40848264_40848265 4 2 2 0 0 rs28399445, NC_000019.9:g.41354169_41354170delGCinsT, NP_000753.3:p.Arg203=, XP_005258625.1:p.Arg152Glnfs, NC_000019.9:g.41354169_41354170=, NP_000753.3:p.Arg203fs, NM_000762.5:c.608_609delGCinsA, NG_008377.1:g.7183_7184=, NC_000019.10:g.40848264_40848265delGCinsT, 28399445, NC_000019.10:g.40848264_40848265=, NG_008377.1:g.7183_7184delGCinsA, NP_000753.3:p.Arg203Glnfs, XM_005258568.1:c.455_456delGCinsA, NC_000019.10:g.40848264_40848265delinsT, NG_008377.1:g.7183_7184delinsA, NC_000019.9:g.41354169_41354170delinsT +PA166158972 rs28399447 PA121 CYP2A6 NC_000019.10:40847036 5 2 2 0 0 NC_000019.10:g.40847036=, NG_008377.1:g.8412T>C, rs28399447, 111033610, 28399447, NP_000753.3:p.Ser224=, NC_000019.9:g.41352941A>G, NC_000019.10:g.40847036A>G, NC_000019.9:g.41352941=, NG_008377.1:g.8412=, NP_000753.3:p.Ser224Pro +PA166176229 rs28399453 PA121 CYP2A6 NC_000019.10:40845495 1 0 0 0 0 NG_008377.1:g.9953=, NC_000019.9:g.41351400G>A, NC_000019.10:g.40845495G>A, rs28399453, 28399453, NG_008377.1:g.9953C>T, NC_000019.10:g.40845495=, NC_000019.9:g.41351400= +PA166155475 rs28399454 PA121 CYP2A6 NC_000019.10:40845362 27 6 5 0 0 NG_008377.1:g.10086G>A, NC_000019.9:g.41351267=, XP_005258625.1:p.Val314Met, rs28399454, NM_000762.5:c.1093G>A, XM_005258568.1:c.940G>A, NC_000019.9:g.41351267C>T, NC_000019.10:g.40845362=, NP_000753.3:p.Val365Met, rs57673794, NG_008377.1:g.10086=, NC_000019.10:g.40845362C>T, NP_000753.3:p.Val365=, 28399454, 57673794 +PA166155476 rs28399463 PA121 CYP2A6 NC_000019.10:40844682 4 2 2 0 0 NG_008377.1:g.10766A>G, NG_008377.1:g.10766=, 56964238, NC_000019.9:g.41350587T>C, NP_000753.3:p.Asn418Asp, rs28399463, XP_005258625.1:p.Asn367Asp, NP_000753.3:p.Asn418=, NC_000019.10:g.40844682T>C, rs56964238, 28399463, NC_000019.10:g.40844682=, XM_005258568.1:c.1099A>G, NC_000019.9:g.41350587=, NM_000762.5:c.1252A>G +PA166155477 rs28399468 PA121 CYP2A6 NC_000019.10:40843827 14 4 3 0 0 NG_008377.1:g.11621G>T, NC_000019.10:g.40843827C>A, rs28399468, NC_000019.9:g.41349732C>G, NC_000019.9:g.41349732=, NG_008377.1:g.11621=, NC_000019.9:g.41349732C>A, NP_000753.3:p.Arg485Leu, XM_005258568.1:c.1301G>T, NG_008377.1:g.11621G>C, 386574980, NP_000753.3:p.Arg485=, XP_005258625.1:p.Arg434Leu, rs386574980, 28399468, NC_000019.10:g.40843827C>G, NM_000762.5:c.1454G>T, NC_000019.10:g.40843827=, NP_000753.3:p.Arg485Pro +PA166279692 rs28399469 PA121 CYP2A6 NC_000019.10:40843746 52 6 6 0 0 NG_008377.1:g.11702A>G, rs28399469, NC_000019.10:g.40843746=, NC_000019.9:g.41349651=, 28399469, NC_000019.10:g.40843746T>C, NC_000019.9:g.41349651T>C, NG_008377.1:g.11702=, 59283569 +PA166279693 rs28399470 PA121 CYP2A6 NC_000019.10:40843742 52 6 6 0 0 NC_000019.10:g.40843742=, NG_008377.1:g.11706=, NG_008377.1:g.11706C>T, NC_000019.10:g.40843742G>A, 28399470, NC_000019.9:g.41349647=, rs28399470, NC_000019.9:g.41349647G>A +PA166279694 rs28399471 PA121 CYP2A6 NC_000019.10:40843739 52 6 6 0 0 NG_008377.1:g.11709=, NG_008377.1:g.11709A>G, NC_000019.10:g.40843739T>C, NC_000019.10:g.40843739=, NC_000019.9:g.41349644=, NC_000019.9:g.41349644T>C, rs28399471, 28399471 +PA166343681 rs28399472 PA121 CYP2A6 NC_000019.10:40843737 52 6 6 0 0 NC_000019.10:g.40843737T>C, NG_075068.1:g.214=, NC_000019.9:g.41349642=, NC_000019.9:g.41349642T>C, NC_000019.10:g.40843737=, NG_075068.1:g.214T>C, rs28399472, NG_008377.1:g.11711=, NG_008377.1:g.11711A>G, 28399472 +PA166279703 rs28399474 PA121 CYP2A6 NC_000019.10:40843716 52 6 6 0 0 NC_000019.9:g.41349621G>A, NC_000019.9:g.41349621G>C, 28399474, NC_000019.9:g.41349621=, NG_008377.1:g.11732C>T, rs28399474, NC_000019.10:g.40843716G>A, NC_000019.10:g.40843716=, NG_008377.1:g.11732=, NG_008377.1:g.11732C>G, NC_000019.10:g.40843716G>C +PA166279705 rs28399478 PA121 CYP2A6 NC_000019.10:40843707 52 6 6 0 0 28399478, rs28399478, 57877449, NC_000019.9:g.41349612G>T, NC_000019.10:g.40843707=, NG_008377.1:g.11741=, NG_008377.1:g.11741C>A, NC_000019.9:g.41349612=, NC_000019.10:g.40843707G>T +PA166279706 rs28399479 PA121 CYP2A6 NC_000019.10:40843700 52 6 6 0 0 NG_008377.1:g.11748=, NC_000019.10:g.40843700G>C, rs28399479, 28399479, NC_000019.10:g.40843700=, NC_000019.9:g.41349605G>C, NG_008377.1:g.11748C>G, 60719265, NC_000019.9:g.41349605= +PA166279707 rs28399480 PA121 CYP2A6 NC_000019.10:40843698 52 6 6 0 0 NC_000019.10:g.40843698=, NG_008377.1:g.11750G>A, 28399480, NG_008377.1:g.11750=, NC_000019.9:g.41349603C>T, NC_000019.10:g.40843698C>T, NC_000019.9:g.41349603=, rs28399480 +PA166343682 rs28399481 PA121 CYP2A6 NC_000019.10:40843693 52 6 6 0 0 NC_000019.10:g.40843693C>G, NG_008377.1:g.11755G>C, NC_000019.9:g.41349598=, NC_000019.9:g.41349598C>G, NG_075068.1:g.170C>G, 28399481, NG_008377.1:g.11755=, NG_075068.1:g.170=, rs28399481, NC_000019.10:g.40843693= +PA166343683 rs28399482 PA121 CYP2A6 NC_000019.10:40843692 52 6 6 0 0 NC_000019.10:g.40843692G>C, NC_000019.10:g.40843692G>A, NC_000019.9:g.41349597G>C, rs28399482, NG_008377.1:g.11756=, NC_000019.10:g.40843692=, NC_000019.9:g.41349597=, NC_000019.9:g.41349597G>A, NG_008377.1:g.11756C>G, NG_075068.1:g.169=, NG_008377.1:g.11756C>T, 59034700, NG_075068.1:g.169G>C, 28399482, NG_075068.1:g.169G>A +PA166155478 rs28399499 PA123 CYP2B6 NC_000019.10:41012316 62 6 4 0 0 XM_005258571.1:c.383T>C, XM_006723050.2:c.983T>C, XM_011526549.1:c.392T>C, XP_011524849.1:p.Ile328Thr, XP_005258628.1:p.Ile128Thr, XP_005258627.1:p.Ile328Thr, XM_011526550.1:c.383T>C, XM_005258569.3:c.983T>C, NC_000019.9:g.41518221T>C, NM_000767.4:c.983T>C, NC_000019.10:g.41012316=, XP_011524851.1:p.Ile131Thr, NG_007929.1:g.26018T>C, rs28399499, XP_011524848.1:p.Ile328Thr, XM_011526546.1:c.983T>C, NG_007929.1:g.26018=, NC_000019.10:g.41012316T>C, XM_005258570.1:c.983T>C, NP_000758.1:p.Ile328Thr, CYP2B6*16, XP_006723113.1:p.Ile328Thr, NC_000019.9:g.41518221=, XP_011524850.1:p.Ile168Thr, CYP2B6*18, XM_005258569.1:c.983T>C, XP_011524852.1:p.Ile128Thr, XM_011526547.1:c.983T>C, XM_011526548.1:c.503T>C, 28399499, NP_000758.1:p.Ile328=, XP_005258626.1:p.Ile328Thr +PA166154177 rs28399504 PA124 CYP2C19 NC_000010.11:94762706 23 3 2 0 0 CYP2C19*4, NG_055436.1:g.2066A>G, rs28399504, NP_000760.1:p.Met1=, NM_000769.1:c.1A>G, NM_000769.2:c.1A>G, NC_000010.10:g.96522463A>G, NC_000010.11:g.94762706A>T, NG_055436.1:g.2066=, NG_008384.3:g.5026=, NG_008384.3:g.5026A>T, 28399504, NG_055436.1:g.2066A>T, NP_000760.1:p.Met1Leu, NC_000010.11:g.94762706A>G, NP_000760.1:p.Met1Val, NC_000010.10:g.96522463=, NC_000010.10:g.96522463A>T, NG_008384.3:g.5026A>G, NC_000010.11:g.94762706=, NG_008384.2:g.5001A>G +PA166157485 rs28401781 PA267 ABCB1 NC_000007.14:87519012 1 1 0 0 0 66798261, rs66798261, rs28401781, NC_000007.13:g.87148328=, NG_011513.1:g.199237G>A, NG_011513.1:g.199237=, NC_000007.13:g.87148328C>T, NC_000007.14:g.87519012C>T, 28401781, NM_000927.4:c.2927+314G>A, NC_000007.14:g.87519012= +PA166199981 rs28404156 PA25435 BST1 NC_000004.12:15736109 1 1 0 0 0 28404156, rs28404156, NC_000004.11:g.15737732G>A, NC_000004.12:g.15736109G>A, 60065551, NC_000004.12:g.15736109=, NC_000004.11:g.15737732= +PA166155479 rs28416813 PA134952671 IFNL3 NC_000019.10:39245004 3 1 0 0 0 NC_000019.9:g.39735644C>G, XM_011526757.1:c.11-35G>C, NG_042193.1:g.4968=, NG_055295.1:g.8853G>C, NC_000019.10:g.39245004C>G, XM_005258765.1:c.11-35G>C, NM_172139.2:c.-37G>C, XM_005258765.3:c.11-35G>C, NG_042193.1:g.4968G>C, NC_000019.9:g.39735644=, NC_000019.10:g.39245004=, 28416813, rs28416813, NG_055295.1:g.8853= +PA166153720 rs2842030 PA34375 RGS4 NC_000001.11:163070705 2 2 0 0 0 NC_000001.11:g.163070705=, NC_000001.10:g.163040495G>A, NG_023312.1:g.7100G>A, NC_000001.11:g.163070705G>A, NG_023312.1:g.7100=, NC_000001.10:g.163040495=, 2842030, rs2842030, NC_000001.11:g.163070705G>T, NM_001102445.2:c.335+1177G>T, NM_001113381.1:c.44+1177G>T, NG_023312.1:g.7100G>T, NM_005613.5:c.44+1177G>T, NC_000001.10:g.163040495G>T, NM_001113380.1:c.-1449G>T +PA166157051 rs2842934 PA356 TPMT NC_000006.12:18138983 1 0 0 0 0 NC_000006.12:g.18138983=, 57191363, 59455534, rs74291799, NM_000367.3:c.474T=, 17850525, NC_000006.11:g.18139214=, NG_012137.2:g.21161T>G, 56622291, TPMT*1S, 74291799, XP_011513141.1:p.Ile158=, NG_012137.2:g.21161T=, rs56622291, XM_011514839.1:c.474C>T, NC_000006.11:g.18139214G>C, NM_000367.3:c.474T>C, NC_000006.11:g.18139214G>A, rs41332952, NP_000358.1:p.Ile158=, 2842934, rs2842934, NG_012137.2:g.21161T>C, NC_000006.12:g.18138983G>C, NC_000006.12:g.18138983G>A, XP_011513142.1:p.Ile135=, rs59455534, rs57191363, XM_011514840.1:c.405C>T, NP_000358.1:p.Ile158Met, 41332952, rs17850525 +PA166157052 rs2842949 PA356 TPMT NC_000006.12:18133790 1 0 0 0 0 2842949, NC_000006.11:g.18134021=, rs2842949, 45475992, XM_011514839.1:c.580+14G>T, NC_000006.12:g.18133790=, NG_012137.2:g.26354G>T, NC_000006.11:g.18134021C>A, NG_012137.2:g.26354=, rs45475992, NM_000367.3:c.580+14G>T, XM_011514840.1:c.511+14G>T, NC_000006.12:g.18133790C>A +PA166157053 rs2844665 NC_000006.12:31039078 2 1 0 0 0 NT_167246.1:g.2355213T>C, NT_167247.1:g.2388802T>C, NT_167245.2:g.2295724C=, 60935531, rs6910746, 6910746, NT_167247.1:g.2388802T=, NT_167249.1:g.2339110C>T, rs2844665, NC_000006.11:g.31006855T=, NT_167244.2:g.2368919C>T, 2844665, NT_167248.2:g.2294713C>T, NT_167249.2:g.2339812C>T, NC_000006.12:g.31039078T=, NC_000006.12:g.31039078=, NT_167246.2:g.2349593T>C, NT_167244.1:g.2318835C=, NT_167244.2:g.2368919C=, rs16898459, 13198573, NT_113891.2:g.2518877C=, NT_167245.1:g.2301309C>T, NC_000006.12:g.31039078T>C, NT_113891.3:g.2518771C=, NT_167248.1:g.2300309C>T, rs117959072, NT_167247.2:g.2383217T>C, NT_113891.3:g.2518771C>T, NT_167245.2:g.2295724C>T, NT_167249.2:g.2339812C=, 117959072, NT_167246.2:g.2349593T=, rs60935531, 115652646, rs13198573, NT_167244.1:g.2318835C>T, rs115652646, NC_000006.11:g.31006855T>C, NC_000006.11:g.31006855=, NC_000006.11:g.31006855T>G, 16898459, NT_113891.2:g.2518877C>T, NT_167246.1:g.2355213T=, NT_167248.1:g.2300309C=, NT_167248.2:g.2294713C=, NT_167247.2:g.2383217T=, NT_167249.1:g.2339110C=, NT_167245.1:g.2301309C=, NC_000006.12:g.31039078T>G +PA166165182 rs28458425 PA26453 CHD2 NC_000015.10:92914731 1 0 0 0 0 NG_012826.1:g.19411A>G, NC_000015.10:g.92914731A>G, rs28458425, NC_000015.9:g.93457961A>T, NG_012826.2:g.19411A>T, NG_012826.1:g.19411A>T, NG_012826.2:g.19411A>G, NC_000015.9:g.93457961A>G, NG_012826.2:g.19411=, NC_000015.10:g.92914731=, 28458425, NG_012826.1:g.19411=, NC_000015.10:g.92914731A>T, NC_000015.9:g.93457961= +PA166154389 rs2846680 PA213 KCNJ1 NC_000011.10:128859950 1 0 0 0 0 NC_000011.10:g.128859950=, NM_153766.2:c.-192+7223T>G, NM_153767.3:c.-192+6573T>G, NC_000011.10:g.128859950A>C, NC_000011.9:g.128729845=, NG_009379.1:g.12424T>G, NM_153765.2:c.30+6573T>G, NC_000011.9:g.128729845A>C, rs58251847, NM_153764.2:c.-22+7223T>G, rs2846680, 2846680, NG_009379.1:g.12424=, 58251847 +PA166203154 rs28470592 PA376 ABCC3 NC_000017.11:50650003 1 0 0 0 0 NC_000017.11:g.50650003C>T, NC_000017.11:g.50650003=, 28470592, NC_000017.10:g.48727364C>T, NC_000017.10:g.48727364=, rs28470592, NC_000017.10:g.48727364C>A, NC_000017.11:g.50650003C>A +PA166155288 rs2847153 PA359 TYMS NC_000018.10:661647 2 1 0 0 0 NM_001071.2:c.280-499G>A, NC_000018.10:g.661647G>A, NG_028255.1:g.9044=, NC_000018.9:g.661647=, XM_005258138.1:c.205+3700G>A, 57253344, NG_028255.1:g.9044G>A, XM_005258137.1:c.280-499G>A, rs57253344, NC_000018.10:g.661647=, rs2847153, 2847153, NC_000018.9:g.661647G>A +PA166157054 rs2848716 PA30811 MICA NC_000006.12:31420190 1 0 0 0 0 114839305, NT_167246.2:g.2728776G>C, 59396450, NC_000006.12:g.31420190=, 3997947, NC_000006.12:g.31420190G>C, rs114839305, rs3997947, rs6457417, NT_113891.2:g.2900667G>C, NC_000006.12:g.31420190G>A, 6457417, 2848716, rs2848716, 118133555, NC_000006.11:g.31387967=, NT_167249.2:g.2722467G>C, NC_000006.11:g.31387967G>A, NC_000006.11:g.31387967G>C, rs118133555, rs59396450, NT_113891.3:g.2900561G>C, NT_167246.1:g.2734396G>C, NT_167249.1:g.2721765G>C +PA166155480 rs28493229 PA134988974,PA29977 COQ8B,ITPKC NC_000019.10:40718299 2 0 0 0 0 NM_025194.2:c.1155+9G>C, NG_012970.1:g.6197=, NC_000019.9:g.41224204=, XM_011527335.1:c.-1441C>G, XM_011527334.1:c.-1441C>G, XR_243961.1:n.1311+9G>C, NC_000019.10:g.40718299=, NC_000019.10:g.40718299G>C, NG_027800.1:g.3587C>T, NC_000019.10:g.40718299G>A, NG_027800.1:g.3587=, rs28493229, NC_000019.9:g.41224204G>A, NG_012970.1:g.6197G>C, NG_027800.1:g.3587C>G, NM_024876.3:c.-1716C>G, XM_006723404.1:c.1155+9G>C, NC_000019.9:g.41224204G>C, NG_012970.1:g.6197G>A, XM_011527337.1:c.-1558C>G, 28493229 +PA166155289 rs2849380 PA25302 BCL2 NC_000018.10:63312127 2 1 0 0 0 rs2849380, XM_011526135.1:c.585+5955G>A, rs59530358, NC_000018.10:g.63312127=, NG_009361.1:g.12254G>A, 117552567, XR_245468.1:n.2249+5403G>A, rs117552567, 386575265, NC_000018.9:g.60979360=, NC_000018.10:g.63312127C>T, XR_935247.1:n.1697+5955G>A, rs17759918, rs386575265, XR_935248.1:n.1476+5955G>A, NG_009361.1:g.12254=, NM_000633.2:c.585+5955G>A, 17759918, XM_005266735.1:c.585+5955G>A, NC_000018.9:g.60979360C>T, XR_935246.1:n.1697+5955G>A, 2849380, 59530358 +PA166289201 rs2853209 PA24526 ADAM33 NC_000020.11:3670825 1 0 0 0 0 NC_000020.10:g.3651472T>A, NC_000020.11:g.3670825=, 17548893, NC_000020.10:g.3651472=, NC_000020.11:g.3670825T>A, rs2853209, 2853209 +PA166155290 rs2853539 PA134956204,PA359 C18orf56,TYMS NC_000018.10:659829 2 1 0 0 0 NC_000018.9:g.659829A>G, NC_000018.9:g.659829=, NG_028255.1:g.7226=, NG_028255.1:g.7226A>G, XM_005258137.1:c.279+115A>G, NC_000018.9:g.659829A>T, NM_001012716.2:c.-1582T>C, XM_005258138.1:c.205+1882A>G, NC_000018.10:g.659829=, NC_000018.10:g.659829A>G, NG_028255.1:g.7226A>T, NC_000018.10:g.659829A>T, rs2853539, NM_001071.2:c.279+115A>G, 2853539 +PA166161209 rs2853542 PA359 TYMS NC_000018.10:657685 3 0 0 0 0 NC_000018.9:g.657685G>T, rs2853542, 2853542, NG_028255.1:g.5082=, NC_000018.9:g.657685=, NG_028255.1:g.5082G>T, NC_000018.10:g.657685G>T, NC_000018.9:g.657685G>C, 11540151, NC_000018.10:g.657685=, NC_000018.9:g.657685G>A, NG_028255.1:g.5082G>A, NC_000018.10:g.657685G>A, NG_028255.1:g.5082G>C, NC_000018.10:g.657685G>C +PA166179083 rs2853564 PA37301 VDR NC_000012.12:47884704 1 0 0 0 0 NC_000012.11:g.48278487=, NC_000012.12:g.47884704G>A, rs2853564, 17879823, NG_008731.1:g.25328C>T, 2853564, NC_000012.12:g.47884704=, NC_000012.11:g.48278487G>A, 61109553, NG_008731.1:g.25328= +PA166163757 rs2853741 PA359 TYMS NC_000018.10:657352 1 1 0 0 0 NG_028255.1:g.4749T>G, rs2853741, NG_028255.1:g.4749=, NC_000018.10:g.657352=, NC_000018.10:g.657352T>G, NC_000018.9:g.657352T>A, NG_028255.1:g.4749T>A, NG_028255.1:g.4749T>C, NC_000018.9:g.657352T>C, NC_000018.10:g.657352T>A, NC_000018.9:g.657352T>G, NC_000018.10:g.657352T>C, NC_000018.9:g.657352=, 2853741, 56969325 +PA166158911 rs2853826 PA31229,PA31262,PA31263,PA31264,PA31265 MT-CO3,MT-ND3,MT-ND4,MT-ND4L,MT-ND5 NC_012920.1:10398 1 1 0 0 0 NC_012920.1:m.10398=, 386508221, 3899189, NC_012920.1:m.10398A>T, 200481026, 2853826, 4133677, 56162303, 56189606, 111408880, 386829100, NC_012920.1:m.10398A>G, rs2853826 +PA166154390 rs2854116 PA53 APOC3 NC_000011.10:116829453 3 1 0 0 0 rs35523410, NG_008949.1:g.4546C>T, rs17251249, 17251249, rs45537037, 35523410, NM_000040.1:c.-501C>T, NC_000011.10:g.116829453=, NC_000011.10:g.116829453C>T, NG_008949.1:g.4546=, rs2854116, NC_000011.9:g.116700169C>T, 2854116, 45537037, NC_000011.9:g.116700169= +PA166154391 rs2854117 PA24887,PA53 APOA4,APOC3 NC_000011.10:116829426 3 1 0 0 0 NG_008949.1:g.4519T>C, NG_008949.1:g.4519T>A, 17251242, NC_000011.10:g.116829426=, 33989105, NC_000011.9:g.116700142=, NC_000011.10:g.116829426T>A, 2854117, NC_000011.10:g.116829426T>C, rs2854117, NM_000040.1:c.-528T>C, NG_008949.1:g.4519=, NC_000011.9:g.116700142T>C, rs33989105, rs17251242, NC_000011.9:g.116700142T>A +PA166157368 rs2854744 PA29705 IGFBP3 NC_000007.14:45921476 3 1 0 0 0 NM_000598.4:c.-336C>A, NG_011508.1:g.4797=, NG_011508.1:g.4797C>A, NC_000007.13:g.45961075G>C, NC_000007.13:g.45961075G>T, NM_001013398.1:c.-336C>A, NC_000007.14:g.45921476=, NC_000007.14:g.45921476G>T, XM_005249743.1:c.-336C>A, 2854744, rs2854744, NC_000007.14:g.45921476G>C, NG_011508.1:g.4797C>G, NC_000007.13:g.45961075= +PA166157369 rs2854746 PA29705 IGFBP3 NC_000007.14:45921046 1 0 0 0 0 NG_011508.1:g.5227C>A, 11537918, NC_000007.14:g.45921046G>C, NP_000589.2:p.Ala32Glu, NG_011508.1:g.5227C>G, rs17856581, NG_011508.1:g.5227=, NP_000589.2:p.Ala32Gly, NC_000007.14:g.45921046G>A, NP_001013416.1:p.Ala32Gly, NC_000007.13:g.45960645=, NC_000007.13:g.45960645G>T, NM_000598.4:c.95C>G, 17849244, NC_000007.14:g.45921046=, NC_000007.13:g.45960645G>C, NC_000007.14:g.45921046G>T, NG_011508.1:g.5227C>T, NM_001013398.1:c.95C>G, rs17849244, NC_000007.13:g.45960645G>A, NP_000589.2:p.Ala32Val, 17856581, rs2854746, XM_005249743.1:c.9+86C>G, rs11537918, 2854746, NP_000589.2:p.Ala32= +PA166155210 rs2857657 PA130413151 CCL2 NC_000017.11:34256113 1 1 0 0 0 NG_012123.1:g.5837=, NC_000017.10:g.32583132G>T, rs2857657, NC_000017.11:g.34256113G>C, rs59543051, NG_012123.1:g.5837G>T, NC_000017.10:g.32583132G>C, NC_000017.11:g.34256113G>T, NM_002982.3:c.77-109G>C, NG_012123.1:g.5837G>C, 2857657, 59543051, NC_000017.11:g.34256113=, NC_000017.10:g.32583132= +PA166157055 rs2858996 PA29263 HFE NC_000006.12:26093798 1 0 0 0 0 rs2858996, 2858996, NM_139006.2:c.965-388G>T, NC_000006.12:g.26093798=, NM_139008.2:c.701-388G>T, NG_008720.2:g.11518G>A, NG_008720.2:g.11518G>C, NC_000006.11:g.26094026G>A, NM_139007.2:c.743-388G>T, NC_000006.11:g.26094026G>C, XM_005249040.1:c.998-388G>T, 116994553, NC_000006.12:g.26093798G>T, XM_011514544.1:c.998-388G>T, NG_008720.2:g.11518G>T, rs59743630, NM_001300749.1:c.1006+566G>T, NC_000006.11:g.26094026G>T, NC_000006.12:g.26093798G>C, NC_000006.12:g.26093798G>A, rs116994553, NM_000410.3:c.1007-388G>T, 59743630, NM_139009.2:c.938-388G>T, NM_139003.2:c.689-388G>T, NM_139011.2:c.191-388G>T, XM_011514543.1:c.1007-388G>T, NC_000006.11:g.26094026=, XR_241894.1:n.1120-388G>T, NM_139004.2:c.731-388G>T, NM_139010.2:c.467-388G>T, NG_008720.2:g.11518= +PA166153721 rs2859228 NC_000001.11:172644101 1 0 0 0 0 rs2859228, NC_000001.10:g.172613241A>G, 2859228, NC_000001.10:g.172613241A>T, NC_000001.11:g.172644101A>G, NC_000001.10:g.172613241=, NC_000001.11:g.172644101A>T, NC_000001.11:g.172644101=, rs60700418, 60700418 +PA166153722 rs2859229 NC_000001.11:172645877 1 0 0 0 0 NC_000001.10:g.172615017C>T, rs57571990, rs2859229, 2859229, NC_000001.11:g.172645877=, NC_000001.11:g.172645877C>A, 57571990, NC_000001.11:g.172645877C>T, NC_000001.10:g.172615017=, NC_000001.10:g.172615017C>A +PA166153723 rs2859388 PA33186 PER3 NC_000001.11:7828155 1 0 0 0 0 XM_005263522.1:c.2883+340A>G, XM_005263523.2:c.2865+340A>G, XM_005263525.1:c.2886+340A>G, rs2859388, 2859388, XM_011542385.1:c.2886+340A>G, XM_005263520.1:c.2886+340A>G, XM_005263527.1:c.2538+340A>G, NC_000001.11:g.7828155A>G, NM_001289861.1:c.2886+340A>G, NC_000001.10:g.7888215=, rs17365896, XM_005263524.2:c.2886+340A>G, XM_011542389.1:c.2523+340A>G, NG_046850.1:g.48776=, XM_005263521.2:c.2886+340A>G, NM_001289863.1:c.2865+340A>G, XM_011542384.1:c.2886+340A>G, NC_000001.11:g.7828155=, XM_005263529.2:c.2361+340A>G, XM_005263530.1:c.1914+340A>G, 17365896, XM_005263526.1:c.2865+340A>G, NM_001289864.1:c.1929+340A>G, NM_016831.2:c.2862+340A>G, XM_005263522.2:c.2883+340A>G, XM_011542386.1:c.2865+340A>G, XM_011542390.1:c.2865+340A>G, XM_005263523.1:c.2865+340A>G, XM_005263528.1:c.2535+340A>G, NC_000001.10:g.7888215A>G, XM_011542387.1:c.2718+340A>G, XM_011542388.1:c.2538+340A>G, NG_046850.1:g.48776A>G, NM_001289862.1:c.2886+340A>G, XM_005263521.1:c.2886+340A>G, XM_005263524.1:c.2886+340A>G, XM_005263529.1:c.2361+340A>G +PA166271641 rs2860840 PA127 CYP2C18 NC_000010.11:94735475 4 0 0 0 0 NC_000010.10:g.96495232=, 2860840, rs2860840, NC_000010.11:g.94735475C>T, NC_000010.10:g.96495232C>T, NC_000010.11:g.94735475=, 3740366, 59801764, NG_008373.1:g.56982C>T, NG_008373.1:g.56982= +PA166154023 rs2860905 PA126 CYP2C9 NC_000010.11:94942538 1 0 0 0 0 NM_000771.3:c.481+197G>A, NC_000010.11:g.94942538=, NG_008385.2:g.9381=, NG_008385.2:g.9381G>A, 2860905, rs2860905, NG_008385.1:g.8881G>A, 56268370, NC_000010.10:g.96702295=, NC_000010.11:g.94942538G>A, XM_005269575.1:c.481+197G>A, NC_000010.10:g.96702295G>A, rs56268370, NG_008385.1:g.8881= +PA166185792 rs28656907 PA267,PA162402278 ABCB1,RUNDC3B NC_000007.14:87714706 2 1 0 0 0 NC_000007.13:g.87344022=, rs28656907, NC_000007.14:g.87714706=, NC_000007.13:g.87344022T>A, NG_011513.1:g.3543=, NG_011513.1:g.3543A>T, NC_000007.13:g.87344022T>C, 59820277, NC_000007.14:g.87714706T>A, NC_000007.14:g.87714706T>C, NG_011513.1:g.3543A>G, 28656907 +PA166157370 rs2868177 PA33532 POR NC_000007.14:75960585 9 0 0 0 0 NC_000007.13:g.75589903=, XM_005250461.1:c.-264+6405A>G, XM_005277600.1:c.188+6405A>G, 10375158, NM_000941.2:c.188+6405A>G, 61116122, NC_000007.14:g.75960585A>G, NW_003871064.1:g.3489821A>G, rs59093849, rs2868177, NG_008930.1:g.50484A>G, 59093849, 2868177, XM_005277602.1:c.-264+6405A>G, NC_000007.13:g.75589903A>G, XM_005250459.1:c.188+6405A>G, rs61116122, NC_000007.14:g.75960585=, NG_008930.1:g.50484=, rs10375158 +PA166154272 rs286913 PA27681 EHF NC_000011.10:34633816 1 0 0 0 0 NM_012153.5:c.-3-8812A>G, NC_000011.10:g.34633816A>T, XM_005252859.1:c.7-8812A>G, NG_029177.1:g.17776=, NC_000011.10:g.34633816A>G, NC_000011.10:g.34633816A>C, 60431101, XM_005252860.1:c.-3-8812A>G, NG_029177.1:g.17776A>T, XM_005252857.1:c.63+1164A>G, XM_005252861.1:c.63+1164A>G, NC_000011.9:g.34655363A>C, rs286913, NC_000011.9:g.34655363A>G, XM_011519984.1:c.-161-8192A>G, rs60431101, NG_029177.1:g.17776A>C, NC_000011.10:g.34633816=, NG_029177.1:g.17776A>G, 286913, XM_005252862.1:c.-3-8812A>G, NC_000011.9:g.34655363A>T, NM_001206615.1:c.-3-8812A>G, XM_005252858.1:c.30+2188A>G, XM_011519983.1:c.7-8812A>G, NM_001206616.1:c.63+1164A>G, NC_000011.9:g.34655363= +PA166185481 rs2869546 PA113 CHRNA3 NC_000015.10:78615003 2 0 0 0 0 NC_000015.10:g.78615003C>A, NC_000015.9:g.78907345C>T, 57149269, NG_016143.1:g.11293G>T, 17408788, NC_000015.10:g.78615003=, NG_016143.1:g.11293=, NC_000015.9:g.78907345=, NC_000015.9:g.78907345C>A, 2869546, NC_000015.10:g.78615003C>T, NC_000015.9:g.78907345C>G, rs2869546, NC_000015.10:g.78615003C>G, NG_016143.1:g.11293G>C, NG_016143.1:g.11293G>A +PA166156567 rs2869950 PA26496,PA164719541 CHRNB4,FAM13A NC_000004.12:88821613 1 1 0 0 0 XM_005262683.2:c.1008-16561G>A, NC_000004.12:g.88821613C>A, XM_005262684.2:c.381-16561G>A, NM_001265580.1:c.29+1363G>A, 57086820, 3775376, XM_005262684.1:c.381-16561G>A, XM_011531517.1:c.924-16561G>A, NC_000004.11:g.89742764=, XM_011531520.1:c.381-16561G>A, XM_011531519.1:c.450-16561G>A, rs3775376, NC_000004.12:g.88821613=, NC_000004.12:g.88821613C>T, XM_005262681.2:c.1007+29407G>A, NM_001265579.1:c.29+1363G>A, NC_000004.11:g.89742764C>T, XM_005262682.2:c.948-16561G>A, XM_005262681.1:c.1007+29407G>A, NM_001265578.1:c.29+1363G>A, NM_001015045.2:c.29+1363G>A, XM_005262685.1:c.1008-16561G>A, NM_014883.3:c.1008-16561G>A, XM_005262682.1:c.948-16561G>A, rs2869950, 2869950, XM_006714057.2:c.441-16561G>A, XM_011531516.1:c.1008-16561G>A, rs57086820, NC_000004.11:g.89742764C>A, XM_005262683.1:c.1008-16561G>A, XM_011531518.1:c.450-16561G>A +PA166163166 rs28714259 NC_000015.10:23463380 1 0 0 0 0 NC_000015.9:g.23708527=, NC_000015.9:g.23708527G>A, rs28714259, NC_000015.10:g.23463380G>A, 28714259, NC_000015.10:g.23463380= +PA166155211 rs2872507 PA32821 ORMDL3 NC_000017.11:39884510 2 0 0 0 0 rs17305854, 17305854, NC_000017.10:g.38040763G>A, NC_000017.11:g.39884510=, NC_000017.10:g.38040763G>T, NC_000017.11:g.39884510G>T, rs2872507, 60658931, NC_000017.11:g.39884510G>A, rs60658931, 2872507, NC_000017.10:g.38040763= +PA166184250 rs2873804 PA136 DBH NC_000009.12:133640522 1 1 0 0 0 NC_000009.12:g.133640522T>A, NG_008645.1:g.9160T>C, NC_000009.12:g.133640522T>C, NC_000009.11:g.136505644=, NG_008645.1:g.9160T>A, 56561979, 61418731, NC_000009.12:g.133640522=, NC_000009.11:g.136505644T>C, NG_008645.1:g.9160=, NC_000009.11:g.136505644T>A, 2873804, rs2873804 +PA166289401 rs2874116 NC_000018.10:58792367 1 1 0 0 0 17403913, rs2874116, 2874116, NC_000018.10:g.58792367G>A, NC_000018.10:g.58792367=, NC_000018.9:g.56459599=, NC_000018.9:g.56459599G>A +PA166306461 rs2874964 NC_000013.11:36802409 1 0 0 0 0 NC_000013.11:g.36802409G>C, NC_000013.11:g.36802409G>A, 61194907, NC_000013.10:g.37376546G>C, NC_000013.10:g.37376546G>A, 2874964, 52801130, rs2874964, 386576004, NC_000013.10:g.37376546=, NC_000013.11:g.36802409=, NC_000013.11:g.36802409G>T, NC_000013.10:g.37376546G>T +PA166154024 rs2884129 NC_000010.11:17543150 1 0 0 0 0 rs2884129, NC_000010.11:g.17543150T>G, 2884129, NC_000010.10:g.17585149=, NC_000010.11:g.17543150=, NC_000010.10:g.17585149T>G +PA166183471 rs28845026 NC_000002.12:232355544 1 0 0 0 0 NC_000002.11:g.233220254C>G, 35764688, NC_000002.12:g.232355544=, 113685508, NC_000002.12:g.232355544C>A, NC_000002.11:g.233220254=, NC_000002.11:g.233220254C>A, rs28845026, NC_000002.12:g.232355544C>T, 28845026, NC_000002.11:g.233220254C>T, NC_000002.12:g.232355544C>G +PA166155042 rs2884737 PA133787052 VKORC1 NC_000016.10:31094233 9 1 0 0 0 NG_011564.1:g.5723T>G, NM_024006.5:c.173+324T>G, XM_011545944.1:c.173+324T>G, XR_243303.1:n.822+324T>G, tag for VKORC1*2B, NC_000016.10:g.31094233=, XR_950848.1:n.961+324T>G, 17882154, NM_206824.2:c.173+324T>G, XM_011545943.1:c.173+324T>G, rs2884737, 2884737, XM_011545945.1:c.173+324T>G, NC_000016.9:g.31105554A>C, NM_001311311.1:c.173+324T>G, XM_005255568.1:c.173+324T>G, rs17882154, NC_000016.10:g.31094233A>C, NC_000016.9:g.31105554=, NG_011564.1:g.5723= +PA166176940 rs2886059 PA28393 ALDH1L1 NC_000003.12:126146923 1 1 0 0 0 NP_036322.2:p.Val330Leu, 2886059, NC_000003.11:g.125865766C>A, NG_012260.1:g.38720=, NC_000003.11:g.125865766=, NG_012260.1:g.38720G>T, 52826531, NC_000003.12:g.126146923C>G, NC_000003.11:g.125865766C>G, NC_000003.12:g.126146923C>A, 386576316, NP_036322.2:p.Val330Phe, NP_036322.2:p.Val330=, 117759873, NC_000003.12:g.126146923=, NG_012260.1:g.38720G>C, rs2886059 +PA166155691 rs2888327 PA29604 ABCA12 NC_000002.12:215023290 1 0 0 0 0 NM_173076.2:c.1287+2383G>T, XM_011510952.1:c.1287+2383G>T, 2888327, NC_000002.12:g.215023290C>A, NC_000002.11:g.215888014C>A, rs2888327, NM_015657.3:c.333+2383G>T, NC_000002.11:g.215888014=, NG_007074.1:g.120138=, NR_103740.1:n.1531+2383G>T, NG_007074.1:g.120138G>T, XM_011510951.1:c.1287+2383G>T, NC_000002.12:g.215023290= +PA166155043 rs2889517 PA244 ABCC1 NC_000016.10:16088099 1 0 0 0 0 NG_028268.1:g.143523=, NC_000016.10:g.16088099T>A, 2889517, NC_000016.10:g.16088099=, rs2889517, XM_005255328.1:c.2322+1108T>C, XM_005255326.1:c.2460+1108T>C, XM_011522497.1:c.2436+1108T>C, NG_028268.1:g.143523T>A, NG_028268.1:g.143523T>C, NT_187607.1:g.1745955T>C, 58126671, XM_005255327.1:c.2334+1108T>C, NG_028268.2:g.143523T>A, XM_005255329.1:c.2283+1108T>C, NG_028268.2:g.143523T>C, NC_000016.9:g.16181956=, NM_004996.3:c.2460+1108T>C, NC_000016.9:g.16181956T>A, XM_011522498.1:c.2367+1108T>C, rs58126671, NC_000016.9:g.16181956T>C, NG_028268.2:g.143523=, NC_000016.10:g.16088099T>C +PA166155860 rs28898617 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233729143 1 1 0 0 0 NM_205862.1:c.60+35278A>G, NP_061966.1:p.Gln6=, NM_019078.1:c.867+15285A>G, XR_241241.1:n.942-37891A>G, XR_241238.1:n.923+9456A>G, NM_019077.2:c.856-37891A>G, XR_241240.1:n.1022+35278A>G, NC_000002.12:g.233729143=, NC_000002.11:g.234637789A>G, NP_061966.1:p.Gln6Arg, 28898617, NC_000002.12:g.233729143A>G, NG_002601.2:g.144400A>G, NM_001072.3:c.861+35278A>G, NM_021027.2:c.856-37891A>G, NM_019075.2:c.856-37891A>G, NM_019093.2:c.17A>G, NM_019076.4:c.856-37891A>G, rs28898617, NM_007120.2:c.867+9456A>G, NG_002601.2:g.144400=, NC_000002.11:g.234637789= +PA166170630 rs2891356 NC_000008.11:74560988 1 0 0 0 0 NC_000008.11:g.74560988A>T, NC_000008.10:g.75473223A>T, NC_000008.10:g.75473223A>G, rs2891356, NC_000008.11:g.74560988=, NC_000008.11:g.74560988A>G, 2891356, 17351887, 58458214, NC_000008.10:g.75473223= +PA166185742 rs28929474 PA35509 SERPINA1 NC_000014.9:94378610 1 0 0 0 0 28929474, NC_000014.9:g.94378610=, NP_000286.3:p.Glu366Lys, NC_000014.8:g.94844947C>G, NP_000286.3:p.Glu366=, NC_000014.8:g.94844947=, NC_000014.9:g.94378610C>T, rs28929474, NG_008290.1:g.17083=, NC_000014.8:g.94844947C>T, NG_008290.1:g.17083G>C, NG_008290.1:g.17083G>A, NC_000014.9:g.94378610C>G, NP_000286.3:p.Glu366Gln +PA166156467 rs28933389 PA25294 BCHE NC_000003.12:165830222 2 1 0 0 0 NG_009031.1:g.12244C>T, 28933389, NM_000055.2:c.812C>T, NC_000003.12:g.165830222=, NC_000003.12:g.165830222G>A, NG_009031.1:g.12244=, NC_000003.11:g.165548010=, NC_000003.11:g.165548010G>A, XM_005247685.1:c.935C>T, XP_005247742.1:p.Thr312Met, rs28933389, NP_000046.1:p.Thr271Met, NP_000046.1:p.Thr271= +PA166156468 rs28933390 PA25294 BCHE NC_000003.12:165829781 3 1 0 0 0 NC_000003.12:g.165829781C>A, XP_005247742.1:p.Gly459Val, NC_000003.11:g.165547569C>G, NG_009031.1:g.12685=, NG_009031.1:g.12685G>C, rs28933390, NP_000046.1:p.Gly418Ala, NC_000003.11:g.165547569C>A, NC_000003.12:g.165829781C>G, NP_000046.1:p.Gly418=, NC_000003.12:g.165829781=, NG_009031.1:g.12685G>A, NM_000055.2:c.1253G>T, NC_000003.12:g.165829781C>T, NP_000046.1:p.Gly418Val, NC_000003.11:g.165547569C>T, NP_000046.1:p.Gly418Asp, 28933390, NG_009031.1:g.12685G>T, XM_005247685.1:c.1376G>T, NC_000003.11:g.165547569= +PA166155481 rs28933396 PA34896 RYR1 NC_000019.10:38499997 16 1 0 1 0 NM_000540.2:c.7304G>T, NP_001036188.1:p.Arg2435Leu, XM_006723319.1:c.7304G>A, XP_006723382.1:p.Arg2435Leu, NC_000019.9:g.38990637G>A, NP_000531.2:p.Arg2435Leu, NG_008866.1:g.71298=, NP_000531.2:p.Arg2435His, XM_011527204.1:c.7301G>A, NM_000540.2:c.7304G>A, XM_006723317.1:c.7304G>A, NC_000019.10:g.38499997=, NC_000019.10:g.38499997G>T, XP_006723382.1:p.Arg2435His, 28933396, NG_008866.1:g.71298G>T, XM_011527205.1:c.7304G>T, NC_000019.9:g.38990637=, XP_006723380.1:p.Arg2435Leu, XM_006723317.1:c.7304G>T, XP_011525506.1:p.Arg2434Leu, NC_000019.10:g.38499997G>A, rs28933396, XP_011525506.1:p.Arg2434His, NM_001042723.1:c.7304G>A, NP_000531.2:p.Arg2435=, XP_011525507.1:p.Arg2435Leu, NG_008866.1:g.71298G>A, XM_011527205.1:c.7304G>A, NC_000019.9:g.38990637G>T, XM_006723319.1:c.7304G>T, XP_006723380.1:p.Arg2435His, NM_001042723.1:c.7304G>T, XM_011527204.1:c.7301G>T, XP_011525507.1:p.Arg2435His, NP_001036188.1:p.Arg2435His +PA166155482 rs28933397 PA34896 RYR1 NC_000019.10:38500654 10 1 1 1 0 NP_001036188.1:p.Arg2458Cys, XP_006723382.1:p.Arg2458Cys, XM_011527205.1:c.7372C>T, XM_006723317.1:c.7372C>T, NG_008866.1:g.71955C>T, XM_011527204.1:c.7369C>T, XP_011525506.1:p.Arg2457Cys, rs28933397, NP_000531.2:p.Arg2458Cys, NC_000019.9:g.38991294=, NC_000019.9:g.38991294C>T, NP_000531.2:p.Arg2458=, XP_011525507.1:p.Arg2458Cys, NC_000019.10:g.38500654C>T, NC_000019.10:g.38500654=, NM_001042723.1:c.7372C>T, XP_006723380.1:p.Arg2458Cys, XM_006723319.1:c.7372C>T, NG_008866.1:g.71955=, 28933397, NM_000540.2:c.7372C>T +PA166329081 rs28933979 PA37069 TTR NC_000018.10:31592974 0 0 0 0 1 NG_009490.1:g.6208G>A, NG_009490.1:g.6208G>C, NC_000018.10:g.31592974G>A, NG_009490.1:g.6208=, 28933979, NC_000018.9:g.29172937=, NC_000018.9:g.29172937G>C, NC_000018.9:g.29172937G>A, NC_000018.10:g.31592974=, NP_000362.1:p.Val50Leu, NC_000018.10:g.31592974G>C, NP_000362.1:p.Val50=, NP_000362.1:p.Val50Met, rs28933979 +PA166185912 rs28935195 PA28707 GLA NC_000023.11:101401713 1 1 0 0 0 NG_007119.1:g.11251=, NP_000160.1:p.Ala156Thr, NC_000023.10:g.100656701C>T, NG_007119.1:g.11251G>A, 28935195, rs28935195, NC_000023.11:g.101401713=, NP_000160.1:p.Ala156=, NC_000023.11:g.101401713C>T, NC_000023.10:g.100656701= +PA166185920 rs28935490 PA28707 GLA NC_000023.11:101398432 1 1 0 0 0 rs28935490, NP_000160.1:p.Asp313Tyr, NC_000023.10:g.100653420C>A, NC_000023.11:g.101398432C>A, NG_007119.1:g.14532=, NC_000023.10:g.100653420=, NC_000023.10:g.100653420C>T, NG_007119.1:g.14532G>A, NP_000160.1:p.Asp313Asn, 28935490, NP_000160.1:p.Asp313=, NC_000023.11:g.101398432=, NG_007119.1:g.14532G>T, NC_000023.11:g.101398432C>T +PA166157056 rs2894342 PA30856 MLN NC_000006.12:33806617 1 0 0 0 0 2894342, 60040853, NC_000006.11:g.33774394C>A, rs17204037, 3763262, NC_000006.12:g.33806617=, rs3763262, NC_000006.11:g.33774394=, NC_000006.12:g.33806617C>A, 17204037, rs2894342, rs60040853 +PA166305361 rs28943579 PA24679 AKR1C3 NC_000010.11:5098866 1 0 0 0 0 NC_000010.10:g.5141058G>C, NP_003730.4:p.Cys145Tyr, NC_000010.10:g.5141058G>A, rs28943579, NC_000010.11:g.5098866G>C, NC_000010.11:g.5098866G>A, NC_000010.10:g.5141058=, NP_003730.4:p.Cys145Ser, 28943579, NP_003730.4:p.Cys145=, NG_047094.1:g.55101=, NC_000010.11:g.5098866=, NG_047094.1:g.55101G>A, NG_047094.1:g.55101G>C +PA166251081 rs28967009 PA420 UGT1A1 NC_000002.12:233606630 1 0 0 0 0 NG_002601.2:g.21887T>A, NC_000002.11:g.234515276T>A, NG_002601.2:g.21887=, rs28967009, NC_000002.12:g.233606630=, NC_000002.11:g.234515276=, NC_000002.12:g.233606630T>A, 28967009 +PA166165305 rs2897047 NC_000005.10:2640009 1 0 0 0 0 NC_000005.9:g.2640123A>G, NC_000005.9:g.2640123A>T, NC_000005.10:g.2640009A>G, rs2897047, NC_000005.10:g.2640009=, NC_000005.9:g.2640123=, 2897047, NC_000005.10:g.2640009A>T +PA166177319 rs2898292 PA28587 GATA4 NC_000008.11:11725420 1 0 0 0 0 NC_000008.10:g.11582929T>C, rs2898292, 2898292, NC_000008.10:g.11582929T>A, 56998192, NC_000008.10:g.11582929T>G, NC_000008.11:g.11725420T>G, NG_008177.2:g.53502T>A, NG_008177.2:g.53502=, NG_008177.2:g.53502T>C, 386576757, NC_000008.11:g.11725420=, NG_008177.2:g.53502T>G, NC_000008.11:g.11725420T>C, NC_000008.11:g.11725420T>A, NC_000008.10:g.11582929= +PA166177325 rs2898295 PA28587 GATA4 NC_000008.11:11738460 1 0 0 0 0 NC_000008.11:g.11738460G>A, NG_008177.2:g.66542=, NC_000008.11:g.11738460=, NC_000008.10:g.11595969=, NG_008177.2:g.66542G>A, NC_000008.10:g.11595969G>A, 17753026, 61229773, rs2898295, 2898295 +PA166154392 rs2898950 PA298,PA36195 RRM1,STIM1 NC_000011.10:4082830 1 1 0 0 0 rs57019265, NM_001277961.1:c.1138-52A>C, NG_016277.1:g.232128A>C, XM_005253086.1:c.1138-52A>C, rs2898950, NM_001277962.1:c.1138-52A>C, 2898950, NG_016277.1:g.232128=, 57019265, NC_000011.9:g.4104060=, NC_000011.9:g.4104060A>C, NC_000011.10:g.4082830A>C, NC_000011.10:g.4082830=, NM_003156.3:c.1138-52A>C, XM_005253087.1:c.619-52A>C +PA166155865 rs29000568 PA36 ADRA2B 1 0 0 0 0 XP_005263947.1:p.Glu306_Cys307insGluGluGlu, NM_000682.6:c.893_894insAGAGGAGGA, NP_000673.2:p.Glu309_Cys310insGluGluGlu, NC_000002.12:g.96115256_96115257insTCCTCCTCT, XM_005263890.1:c.893_894insAGAGGAGGA, NC_000002.11:g.96780995_96780996insTCCTCCTCT, XM_005263891.1:c.646+247_646+248insAGAGGAGGA, rs29000568, NG_032950.1:g.5893_5894insAGAGGAGGA, 29000568 +PA166154555 rs2900174 PA33700 PRB2 NC_000012.12:11394598 1 0 0 0 0 rs2900174, 2900174, NM_006248.3:c.65-68T>C, XM_005253473.1:c.65-68T>C, 58911820, rs58911820, NC_000012.12:g.11394598=, NC_000012.12:g.11394598A>G, NC_000012.11:g.11547532A>G, NC_000012.11:g.11547532= +PA166154556 rs2900420 NC_000012.12:10369195 1 0 0 0 0 NR_120430.1:n.266-4840G>A, rs61266878, rs76442040, 4463923, rs4463923, 201778694, NC_000012.12:g.10369195=, NC_000012.11:g.10521794=, NC_000012.11:g.10521794G>A, rs201778694, 61266878, 76442040, rs2900420, 2900420, NC_000012.12:g.10369195G>A, XR_242912.1:n.266-4840G>A +PA166181281 rs2900476 PA134865839 SLCO1B1 NC_000012.12:21183129 1 0 0 0 0 NC_000012.11:g.21336063C>T, 60232119, NC_000012.12:g.21183129=, NC_000012.12:g.21183129C>G, NG_011745.1:g.56936C>T, NG_011745.1:g.56936=, NC_000012.11:g.21336063=, 2900476, NC_000012.12:g.21183129C>T, rs2900476, NC_000012.11:g.21336063C>G, 56740851, NG_011745.1:g.56936C>G +PA166154557 rs2900478 PA134865839 SLCO1B1 NC_000012.12:21215863 1 1 0 0 0 NM_006446.4:c.1498-1256T>A, NG_011745.1:g.89670=, rs17382943, NG_011745.1:g.89670T>A, 17382943, NC_000012.12:g.21215863=, NC_000012.12:g.21215863T>A, 2900478, rs2900478, NC_000012.11:g.21368797=, NC_000012.11:g.21368797T>A +PA166154025 rs2901783 PA127 CYP2C18 NC_000010.11:94693342 2 0 0 0 0 rs386576905, NC_000010.11:g.94693342=, NC_000010.10:g.96453099A>G, NC_000010.10:g.96453099=, NC_000010.10:g.96453099A>T, NC_000010.11:g.94693342A>G, NM_001128925.1:c.482-1575A>G, NG_008373.1:g.14849A>T, XM_005269576.1:c.482-1575A>G, NG_008373.1:g.14849=, NG_008373.1:g.14849A>G, NM_000772.2:c.482-1575A>G, 2901783, NC_000010.11:g.94693342A>T, rs2901783, 386576905, XM_005269577.1:c.482-1575A>G +PA166153946 rs290487 PA36394 TCF7L2 NC_000010.11:113149972 2 2 0 0 0 XM_005270074.1:c.1008-1011C>T, NC_000010.11:g.113149972C>T, XM_005270105.1:c.447-1026C>T, rs61339885, XM_005270080.1:c.951-1011C>T, XM_005270090.1:c.693-1026C>T, XM_005270087.1:c.807-1026C>T, XM_005270093.1:c.1020-1011C>T, XM_005270103.1:c.807-1011C>T, XM_011540111.1:c.807-1026C>T, XM_011540110.1:c.939-1026C>T, XM_005270076.1:c.1008-1026C>T, XM_011540117.1:c.1020-1011C>T, XM_011540112.1:c.1020-1011C>T, XM_005270104.1:c.795-1026C>T, XM_005270091.2:c.1020-1011C>T, XM_011540118.1:c.1020-1011C>T, XM_005270101.1:c.807-1011C>T, XM_005270086.1:c.807-1011C>T, XM_005270073.1:c.1017-1011C>T, XM_005270100.1:c.876-1011C>T, 61339885, NC_000010.11:g.113149972=, XM_005270078.1:c.1020-1011C>T, NG_012631.1:g.204723C>T, XM_005270091.1:c.1020-1011C>T, NM_001146285.1:c.807-1026C>T, XM_005270081.1:c.939-1026C>T, XM_005270089.1:c.807-1011C>T, XM_011540115.1:c.1020-1011C>T, XM_006717956.2:c.561-1011C>T, XM_005270106.1:c.327-1026C>T, 290487, NM_001198527.1:c.795-1026C>T, XM_005270097.1:c.447-1011C>T, NM_001198529.1:c.807-1026C>T, XM_011540114.1:c.1020-1011C>T, XM_005270094.1:c.1017-1011C>T, NM_001146286.1:c.807-1026C>T, NM_001198526.1:c.807-1026C>T, NM_001146284.1:c.795-1026C>T, NM_030756.4:c.807-1026C>T, XM_005270085.1:c.876-1011C>T, XM_005270099.1:c.447-1026C>T, XM_005270082.1:c.876-1011C>T, XM_005270072.1:c.1020-1011C>T, XM_005270079.1:c.1020-1026C>T, XM_005270083.1:c.864-1011C>T, XM_011540113.1:c.1020-1011C>T, XM_005270098.1:c.435-1011C>T, NC_000010.10:g.114909731=, XM_005270071.1:c.1020-1011C>T, XM_005270075.1:c.1020-1026C>T, NM_001198528.1:c.807-1026C>T, XM_005270096.1:c.876-1026C>T, NM_001198530.1:c.705-1026C>T, XM_011540109.1:c.1020-1011C>T, NM_001146283.1:c.948-1026C>T, XM_005270102.1:c.864-1026C>T, XM_005270084.1:c.876-1026C>T, XM_005270092.1:c.1020-1011C>T, NC_000010.10:g.114909731C>T, XM_011540116.1:c.1020-1011C>T, NG_012631.1:g.204723=, NM_001198525.1:c.807-1011C>T, XM_005270077.1:c.1020-1011C>T, rs290487, NM_001198531.1:c.876-1026C>T, NM_001146274.1:c.876-1026C>T, XM_011540119.1:c.1020-1011C>T, XM_005270088.1:c.795-1026C>T, XM_005270095.1:c.1020-1011C>T +PA166156810 rs2910164 PA164722497 MIR146A NC_000005.10:160485411 2 0 0 0 0 NC_000005.10:g.160485411=, NC_000005.10:g.160485411C>G, 61270459, rs2910164, 2910164, rs56537094, 57852408, rs57852408, NC_000005.9:g.159912418=, NR_132748.1:n.303C>G, rs61270459, 56537094, NR_029701.1:n.60C>G, NC_000005.9:g.159912418C>G +PA166154838 rs291028 NC_000015.10:95072557 1 0 0 0 0 NC_000015.9:g.95615786C>T, 291028, rs291028, NC_000015.10:g.95072557=, rs60448027, 60448027, XR_932648.1:n.730+3568C>T, NC_000015.10:g.95072557C>T, NC_000015.9:g.95615786= +PA166157581 rs2912024 NC_000008.11:6781378 1 0 0 0 0 rs57353971, NC_000008.10:g.6638899=, NC_000008.11:g.6781378=, NC_000008.11:g.6781378C>T, NC_000008.10:g.6638899C>T, 57353971, rs56641910, 56641910, rs2912024, 2912024 +PA166170207 rs291592 PA145 DPYD NC_000001.11:97078208 1 0 0 0 0 NG_008807.2:g.847852=, 542879, NG_008807.2:g.847852G>A, 199469570, 3181964, 291592, rs291592, NC_000001.11:g.97078208C>T, NC_000001.10:g.97543764C>T, 17470804, NC_000001.11:g.97078208=, NC_000001.10:g.97543764= +PA166170208 rs291593 PA145 DPYD NC_000001.11:97078196 1 0 0 0 0 NC_000001.10:g.97543752=, 542920, NC_000001.11:g.97078196=, 3181966, 199469571, 291593, 60725015, NG_008807.2:g.847864C>T, NC_000001.10:g.97543752G>A, NG_008807.2:g.847864=, 17116349, NC_000001.11:g.97078196G>A, rs291593 +PA166161846 rs2916205 PA134902492 PGLYRP4 NC_000001.11:153348279 1 1 0 0 0 rs2916205, 3737869, NC_000001.10:g.153320755C>T, NC_000001.10:g.153320755=, NC_000001.11:g.153348279C>T, NC_000001.11:g.153348279=, 2916205, 59425161 +PA166163193 rs2916733 PA30701 MCPH1 NC_000008.11:6465757 1 0 0 0 0 rs2916733, 58095935, NC_000008.10:g.6323278G>A, NG_016619.2:g.64166=, NG_016619.2:g.64166G>A, NC_000008.11:g.6465757=, 2916733, NC_000008.10:g.6323278=, NC_000008.11:g.6465757G>A +PA166155044 rs2917670 PA31744 NQO1 NC_000016.10:69725060 1 0 0 0 0 386577181, rs2917670, NG_011504.2:g.6571=, NM_001025433.1:c.7+1373A>G, NM_001286137.1:c.7+1373A>G, 2917670, NG_011504.1:g.6571=, NC_000016.9:g.69758963=, NM_000903.2:c.7+1373A>G, NC_000016.10:g.69725060=, NM_001025434.1:c.7+1373A>G, NG_011504.1:g.6571A>G, NC_000016.9:g.69758963T>C, NC_000016.10:g.69725060T>C, NG_011504.2:g.6571A>G, rs386577181, XM_005255830.1:c.7+1373A>G +PA166155045 rs2917677 PA31744 NQO1 NC_000016.10:69716946 1 0 0 0 0 rs2917677, NC_000016.9:g.69750849C>T, NG_011504.1:g.14685=, 2917677, rs59065774, NM_001025433.1:c.303+1177G>A, NC_000016.10:g.69716946=, NG_011504.1:g.14685G>A, NC_000016.9:g.69750849=, NM_001025434.1:c.303+1177G>A, NM_001286137.1:c.303+1177G>A, NM_000903.2:c.303+1177G>A, 59065774, NC_000016.10:g.69716946C>T, NG_011504.2:g.14685=, XM_005255830.1:c.303+1177G>A, NG_011504.2:g.14685G>A +PA166156370 rs2920500 PA24797 ANGPTL4 NC_000003.12:12281914 1 0 0 0 0 NC_000003.11:g.12323413G>C, 2920500, NC_000003.12:g.12281914=, rs2920500, NC_000003.11:g.12323413G>A, NC_000003.12:g.12281914G>A, rs57684379, NC_000003.11:g.12323413=, 57684379, NC_000003.12:g.12281914G>C +PA166155267 rs292449 PA31534 NEDD4L NC_000018.10:58227849 3 1 0 0 0 292449, NM_001144966.2:c.-242+6092G>C, XM_006722430.2:c.-241-17578G>C, NG_029954.1:g.188472G>C, XM_005266667.1:c.-242+6092G>C, NC_000018.10:g.58227849G>C, XM_006722428.2:c.123-17578G>C, XM_011525887.1:c.118G>C, XM_005266669.1:c.-241-17578G>C, rs111188092, NC_000018.9:g.55895081=, XM_005266670.1:c.-241-17578G>C, XM_005266671.1:c.-300G>C, 111188092, NM_001144970.2:c.-241-17578G>C, NM_001144964.1:c.-241-17578G>C, NC_000018.10:g.58227849=, NM_001144969.1:c.99-17578G>C, NM_001243960.1:c.123-17578G>C, NM_001144971.1:c.-300G>C, rs556977, NM_001144967.2:c.123-17578G>C, rs292449, NM_015277.5:c.123-17578G>C, NC_000018.9:g.55895081G>C, XM_006722426.2:c.142G>C, XP_011524189.1:p.Glu40Gln, XP_006722489.1:p.Glu48Gln, 57943174, NM_001144965.1:c.-241-17578G>C, NM_001144968.1:c.99-17578G>C, 556977, XM_005266666.1:c.123-17578G>C, NG_029954.1:g.188472=, XM_005266668.1:c.-241-17578G>C, rs57943174, XM_005266672.1:c.-241-17578G>C +PA166157582 rs2928607 NC_000008.11:6781189 1 0 0 0 0 NC_000008.10:g.6638710=, NC_000008.11:g.6781189=, 2928607, rs2928607, NC_000008.11:g.6781189C>G, NC_000008.10:g.6638710C>G +PA166157583 rs2928608 NC_000008.11:6781503 1 0 0 0 0 NC_000008.10:g.6639024T>A, NC_000008.11:g.6781503T>C, NC_000008.10:g.6639024T>C, 58017964, NC_000008.11:g.6781503=, rs2928608, rs58017964, 2928608, NC_000008.10:g.6639024=, NC_000008.11:g.6781503T>A +PA166157584 rs2928609 NC_000008.11:6781597 1 0 0 0 0 NC_000008.10:g.6639118T>C, 2928609, 56794760, rs2928609, NC_000008.11:g.6781597T>C, rs56794760, NC_000008.10:g.6639118T>G, NC_000008.11:g.6781597=, NC_000008.11:g.6781597T>G, NC_000008.10:g.6639118= +PA166170524 rs2929183 PA26143 CCKBR NC_000011.10:6261578 1 0 0 0 0 NG_030591.1:g.6905G>C, NC_000011.10:g.6261578G>A, NC_000011.9:g.6282808G>C, NC_000011.10:g.6261578G>C, NC_000011.9:g.6282808G>A, NG_030591.1:g.6905G>A, 2929183, rs2929183, NC_000011.10:g.6261578=, NC_000011.10:g.6261578G>T, NG_030591.1:g.6905G>T, 59506802, NC_000011.9:g.6282808=, NC_000011.9:g.6282808G>T, 60452280, NG_030591.1:g.6905=, 56448863 +PA166252101 rs2929973 PA37372 CCN4 NC_000008.11:133230265 1 0 0 0 0 NC_000008.10:g.134242508G>T, NC_000008.11:g.133230265=, NC_000008.11:g.133230265G>A, NG_029529.1:g.44227G>A, 386577371, 2929973, rs2929973, NC_000008.10:g.134242508G>A, 60636140, NG_029529.1:g.44227G>T, NC_000008.10:g.134242508=, NC_000008.11:g.133230265G>T, NG_029529.1:g.44227= +PA166153724 rs2932538 PA30908 MOV10 NC_000001.11:112673921 1 0 0 0 0 NC_000001.10:g.113216543A>C, NM_020963.4:c.-890A>G, NC_000001.10:g.113216543=, XM_005270870.3:c.-1199A>G, XM_005270869.3:c.-1183A>G, XM_006710644.2:c.-874A>G, NC_000001.10:g.113216543A>G, XM_005270872.1:c.-874A>G, rs56800804, NM_001286072.1:c.-1806A>G, rs2932538, 2932538, XM_005270871.1:c.-1806A>G, XR_946657.1:n.-750A>G, 56800804, XM_005270868.3:c.-874A>G, NM_001130079.2:c.-775A>G, NC_000001.11:g.112673921A>T, XM_005270870.1:c.-1199A>G, XM_005270868.1:c.-874A>G, NC_000001.11:g.112673921A>G, 17439195, XM_005270869.1:c.-1183A>G, XR_426609.2:n.-565A>G, NC_000001.11:g.112673921=, NC_000001.10:g.113216543A>T, XM_005270873.1:c.-874A>G, NC_000001.11:g.112673921A>C, rs17439195 +PA166177104 rs2933304 NC_000003.12:11055173 1 1 0 0 0 NC_000003.11:g.11096859G>C, 2933304, NC_000003.11:g.11096859G>T, NC_000003.12:g.11055173G>T, NC_000003.12:g.11055173G>C, NC_000003.11:g.11096859G>A, NC_000003.12:g.11055173G>A, rs2933304, NC_000003.12:g.11055173=, NC_000003.11:g.11096859= +PA166195781 rs2934965 PA274 PNMT NC_000017.11:39667402 1 0 0 0 0 NC_000017.11:g.39667402G>T, 2934965, NC_000017.11:g.39667402=, NG_008892.1:g.7057G>T, NG_008892.1:g.7057=, NC_000017.10:g.37823655=, NC_000017.10:g.37823655G>T, rs2934965, NG_042278.1:g.4422G>T, NG_042278.1:g.4422= +PA166157585 rs2936519 NC_000008.11:6781719 1 0 0 0 0 2936519, NC_000008.10:g.6639240=, rs2936519, NC_000008.11:g.6781719G>A, 59917631, NC_000008.10:g.6639240G>A, NC_000008.11:g.6781719=, rs59917631 +PA166170022 rs293795 PA26048,PA31912 CAMK1,OGG1 NC_000003.12:9757429 1 0 0 0 0 NC_000003.12:g.9757429=, 3201192, NG_012106.1:g.12486A>G, NC_000003.11:g.9799113=, 3895021, rs293795, 296578, NC_000003.12:g.9757429A>G, NG_012106.1:g.12486=, 293795, NC_000003.11:g.9799113A>G +PA166182830 rs293983 PA25489 ANO3 NC_000011.10:26578824 1 0 0 0 0 57048678, NG_042856.1:g.394702C>T, NC_000011.10:g.26578824C>T, 293983, NC_000011.9:g.26600371C>T, 386577532, NC_000011.10:g.26578824=, rs293983, 451215, NC_000011.9:g.26600371=, NG_042856.1:g.394702= +PA166195782 rs2941523 PA274 PNMT NC_000017.11:39667508 1 0 0 0 0 NG_008892.1:g.7163C>G, rs2941523, NC_000017.11:g.39667508C>G, NG_042278.1:g.4528=, NC_000017.10:g.37823761=, NC_000017.11:g.39667508=, NG_008892.1:g.7163=, 2941523, NG_042278.1:g.4528C>G, NC_000017.10:g.37823761C>G +PA166163174 rs2942857 PA37186 UGT2B10 NC_000004.12:68822269 5 1 0 0 0 NC_000004.12:g.68822269A>T, NC_000004.11:g.69687987C>T, NC_000004.12:g.68822269A>G, rs2942857, 2942857, NC_000004.11:g.69687987C>G, NC_000004.12:g.68822269=, 116294140, 117567773, 58900470, NC_000004.12:g.68822269A>C, NC_000004.11:g.69687987C>A +PA166176768 rs2943641 NC_000002.12:226229029 2 0 0 0 0 60415540, NC_000002.11:g.227093745=, NC_000002.11:g.227093745T>C, NC_000002.11:g.227093745T>A, NC_000002.12:g.226229029T>A, NC_000002.12:g.226229029T>C, NC_000002.12:g.226229029=, rs2943641, 2943641, 17830505 +PA166196761 rs294610 NC_000003.12:14801652 1 1 0 0 0 NC_000003.12:g.14801652C>G, 294610, 1689556, NC_000003.11:g.14843159C>A, NC_000003.12:g.14801652=, NC_000003.12:g.14801652C>A, NC_000003.11:g.14843159C>G, rs294610, NC_000003.11:g.14843159C>T, NC_000003.11:g.14843159=, NC_000003.12:g.14801652C>T +PA166154558 rs2946834 PA29697 IGF1 NC_000012.12:102394036 1 0 0 0 0 NG_011713.1:g.91565T>C, 2946834, XR_945274.1:n.258-10077A>G, XR_945272.1:n.582-10077A>G, rs61280983, XR_945271.1:n.582-10077A>G, NC_000012.12:g.102394036A>C, 17880061, NC_000012.12:g.102394036=, 61280983, NC_000012.12:g.102394036A>G, XR_945275.1:n.138-10077A>G, NC_000012.11:g.102787814A>G, XR_945276.1:n.110-10077A>G, NC_000012.11:g.102787814A>C, XR_945270.1:n.582-10077A>G, NG_011713.1:g.91565=, XR_945277.1:n.582-10077A>G, XR_945273.1:n.532-10077A>G, rs2946834, NG_011713.1:g.91565T>G, rs17880061, NC_000012.11:g.102787814= +PA166156371 rs2948694 PA28677 GHSR NC_000003.12:172447373 1 0 0 0 0 NC_000003.12:g.172447373A>T, NG_021159.1:g.6084T>G, NG_021159.1:g.6084T>C, NG_021159.1:g.6084=, NM_198407.2:c.796+245T>C, NC_000003.11:g.172165163A>C, NC_000003.12:g.172447373=, NC_000003.11:g.172165163A>G, NC_000003.12:g.172447373A>C, NG_021159.1:g.6084T>A, 2948694, rs2948694, NC_000003.12:g.172447373A>G, NC_000003.11:g.172165163=, NM_004122.2:c.*171T>C, NC_000003.11:g.172165163A>T +PA166155594 rs295114 PA165697465 SPATS2L NC_000002.12:200330879 1 0 0 0 0 NM_001282743.1:c.-142+1399C>T, rs295114, 295114, rs3769470, 3769470, NM_015535.2:c.-23+1399C>T, NM_001100423.1:c.-23+1399C>T, rs60607883, NM_001100422.1:c.-23+1399C>T, 386577699, NC_000002.12:g.200330879=, XM_011510938.1:c.68+1399C>T, XM_005246454.1:c.137+1399C>T, 60607883, XM_005246459.1:c.-23+1399C>T, XM_005246456.1:c.-174+1399C>T, NM_001100424.1:c.-23+1399C>T, NM_001282744.1:c.68+1399C>T, XM_005246460.1:c.-174+1399C>T, rs386577699, NM_001282735.1:c.-23+1399C>T, XM_005246457.1:c.-166+1399C>T, XM_005246455.1:c.-23+1399C>T, XM_011510939.1:c.-23+1399C>T, NC_000002.12:g.200330879C>T, NC_000002.11:g.201195602=, NC_000002.11:g.201195602C>T +PA166155595 rs295137 PA165697465 SPATS2L NC_000002.12:200285317 3 0 0 0 0 rs1217459, 296805, 60606350, NC_000002.11:g.201150040=, 1217433, 17531353, 1217352, rs295137, 295137, rs386577704, rs60606350, rs296805, NC_000002.12:g.200285317=, 1653293, 386577704, rs1653293, NC_000002.12:g.200285317C>T, rs1217352, NC_000002.11:g.201150040C>T, rs1217433, rs17531353, 1217459 +PA166155692 rs2952768 NC_000002.12:207629510 4 2 0 0 0 rs74270034, NC_000002.12:g.207629510=, rs57113745, rs2952768, 2952768, NC_000002.11:g.208494234=, NC_000002.12:g.207629510T>A, NC_000002.12:g.207629510T>C, 74270034, NC_000002.11:g.208494234T>G, 57113745, NC_000002.12:g.207629510T>G, NC_000002.11:g.208494234T>C, NC_000002.11:g.208494234T>A +PA166160922 rs2954625 PA26947 CSMD1 NC_000008.11:3912168 1 0 0 0 0 NC_000008.11:g.3912168C>T, NC_000008.10:g.3769690C>T, NC_000008.11:g.3912168=, NC_000008.11:g.3912168C>G, NC_000008.10:g.3769690C>G, 17328839, 61103370, 2954625, rs2954625, NC_000008.10:g.3769690= +PA166157586 rs2959023 PA146 DPYS NC_000008.11:104466921 2 0 0 0 0 58165447, XM_011516903.1:c.-1T>C, XM_011516904.1:c.-1T>C, 199469597, NG_008840.1:g.5129=, rs2959023, NC_000008.10:g.105479149A>G, 2959023, rs199469597, XR_928507.1:n.112+934A>G, XM_005250818.1:c.-1T>C, XM_005250818.2:c.-1T>C, XM_005250819.1:c.-1T>C, NC_000008.11:g.104466921A>G, NC_000008.10:g.105479149=, NM_001385.2:c.-1T>C, NG_008840.1:g.5129T>C, NG_008840.2:g.5129T>C, rs58165447, NC_000008.11:g.104466921=, XM_006716518.2:c.-1T>C, NG_008840.2:g.5129= +PA166156568 rs2960306 PA28941 GRK4 NC_000004.12:2988772 4 0 0 0 0 NC_000004.11:g.2990499=, XP_011511749.1:p.Arg65Leu, XP_005248017.1:p.Arg65Leu, XM_005247958.1:c.98G>T, XM_011513451.1:c.194G>T, XM_011513457.1:c.194G>T, NP_001004056.1:p.Arg33Leu, XP_005248015.1:p.Arg33Leu, NG_029102.1:g.30157G>T, XM_005247957.1:c.194G>T, XM_011513454.1:c.194G>T, NC_000004.12:g.2988772G>A, XM_011513449.1:c.98G>T, NP_005298.2:p.Arg33Leu, rs57066640, XM_005247960.1:c.194G>T, NG_029102.1:g.30157G>A, XM_011513453.1:c.194G>T, XR_924943.1:n.760G>T, XM_005247962.2:c.-372-3443G>T, XM_006713880.2:c.-400-3443G>T, XM_011513452.1:c.194G>T, NC_000004.11:g.2990499G>T, XM_005247959.1:c.194G>T, NC_000004.12:g.2988772=, NM_001004056.1:c.98G>T, NC_000004.11:g.2990499G>A, XR_924941.1:n.760G>T, NP_001004057.1:p.Arg65Leu, XP_005248016.1:p.Arg65Leu, XM_005247962.1:c.-372-3443G>T, NM_001004057.1:c.194G>T, XM_011513455.1:c.194G>T, XM_005247963.1:c.194G>T, XM_011513450.1:c.194G>T, XP_011511751.1:p.Arg33Leu, 2960306, XP_005248014.1:p.Arg65Leu, rs2960306, XM_011513448.1:c.194G>T, NP_892027.2:p.Arg65=, XP_011511750.1:p.Arg65Leu, NM_005307.2:c.98G>T, XP_011511757.1:p.Arg65Leu, 57066640, XP_011511758.1:p.Arg65Leu, XP_011511759.1:p.Arg65Leu, NC_000004.12:g.2988772G>T, XM_011513447.1:c.194G>T, NP_892027.2:p.Arg65His, XP_011511756.1:p.Arg65Leu, XP_011511755.1:p.Arg65Leu, NM_182982.2:c.194G>T, XP_005248020.1:p.Arg65Leu, XP_011511754.1:p.Arg65Leu, XP_011511752.1:p.Arg65Leu, NP_892027.2:p.Arg65Leu, NG_029102.1:g.30157=, XM_011513456.1:c.194G>T, XP_011511753.1:p.Arg65Leu +PA166156372 rs2960421 PA24797 ANGPTL4 NC_000003.12:12281129 1 0 0 0 0 NC_000003.12:g.12281129A>G, NC_000003.12:g.12281129=, NC_000003.11:g.12322628A>T, NC_000003.12:g.12281129A>T, 2960421, rs2960421, NC_000003.11:g.12322628=, NC_000003.11:g.12322628A>G +PA166157371 rs2960436 NC_000007.14:45937683 1 1 0 0 0 NC_000007.13:g.45977282G>A, 56987504, NC_000007.14:g.45937683G>A, rs56987504, rs11535201, 17187020, rs17187020, NC_000007.14:g.45937683=, 2960436, NC_000007.13:g.45977282=, rs2960436, 11535201 +PA166181005 rs2963155 PA181 NR3C1 NC_000005.10:143376439 1 0 0 0 0 rs2963155, 2963155, NC_000005.10:g.143376439A>G, NC_000005.9:g.142756004=, NG_009062.1:g.64074T>C, NG_009062.1:g.64074=, NC_000005.10:g.143376439=, NC_000005.9:g.142756004A>G +PA166154559 rs2965667 NC_000012.12:17291799 2 1 0 0 0 NC_000012.12:g.17291799A>T, NC_000012.12:g.17291799A>C, NC_000012.12:g.17291799=, NC_000012.11:g.17444733=, NC_000012.11:g.17444733A>C, NC_000012.11:g.17444733A>G, NC_000012.11:g.17444733A>T, 2965667, NC_000012.12:g.17291799A>G, rs2965667 +PA166154494 rs296766 PA24920 AQP2 NC_000012.12:49957170 2 1 0 0 0 NC_000012.11:g.50350953T>A, NC_000012.11:g.50350953T>C, NG_008913.1:g.11430T>A, NG_008913.1:g.11430T>C, 59390283, 296766, NG_008913.1:g.11430=, rs296766, NG_033883.1:g.675=, NR_110591.1:n.118-5082A>G, NR_110590.1:n.257-2822A>G, NG_033883.1:g.675T>A, NC_000012.12:g.49957170T>C, NG_033883.1:g.675T>C, NM_000486.5:c.*1562T>C, rs59390283, NC_000012.12:g.49957170T>A, NC_000012.12:g.49957170=, NC_000012.11:g.50350953= +PA166156569 rs2970847 PA33558 PPARGC1A NC_000004.12:23814301 1 0 0 0 0 rs2970847, XP_011512068.1:p.Thr359=, 2970847, NM_013261.3:c.1182A>G, XP_005248191.1:p.Thr399=, XM_005248131.1:c.1194A>G, XM_011513770.1:c.801A>G, XP_011512069.1:p.Thr359=, XM_005248132.1:c.1173A>G, XP_005248189.1:p.Thr391=, XM_005248134.1:c.1197A>G, XM_005248130.2:c.1197A>G, XM_005248133.1:c.1146A>G, XP_005248188.1:p.Thr398=, NC_000004.11:g.23815924T>A, 60288662, NC_000004.11:g.23815924=, NC_000004.11:g.23815924T>C, XM_005248134.3:c.1197A>G, XM_011513767.1:c.1077A>G, NC_000004.12:g.23814301T>C, XM_011513766.1:c.1077A>G, XM_011513768.1:c.1077A>G, NG_028250.1:g.80777A>G, NC_000004.12:g.23814301T>A, rs60288662, rs17847357, NG_028250.2:g.663675=, XP_011512066.1:p.Thr394=, NG_028250.2:g.663675A>T, NP_037393.1:p.Thr394=, XP_011512067.1:p.Thr382=, XP_011512071.1:p.Thr399=, XP_011512072.1:p.Thr267=, XM_005248131.3:c.1194A>G, XM_011513769.1:c.1197A>G, NG_028250.2:g.663675A>G, XM_011513764.1:c.1182A>G, XP_011512073.1:p.Thr267=, 17847357, XP_005248190.1:p.Thr382=, XP_011512070.1:p.Thr359=, XM_011513771.1:c.801A>G, XM_005248130.1:c.1197A>G, NC_000004.12:g.23814301=, XP_005248187.1:p.Thr399=, XM_011513765.1:c.1146A>G +PA166179022 rs2972164 PA281 PPARG NC_000003.12:12292917 1 0 0 0 0 NC_000003.12:g.12292917=, NC_000003.11:g.12334416T>A, rs2972164, 2972164, NC_000003.11:g.12334416T>C, NG_011749.1:g.10068=, NG_011749.1:g.10068T>C, NC_000003.12:g.12292917T>C, NG_011749.1:g.10068T>A, NC_000003.12:g.12292917T>A, NC_000003.11:g.12334416= +PA166156811 rs2973049 PA28644 GDNF NC_000005.10:37818037 1 1 0 0 0 NM_199231.2:c.74-1902A>G, 58539161, NG_011675.2:g.26644A>T, NC_000005.10:g.37818037=, NG_011675.2:g.26644=, 2973049, 9968598, XM_011514030.1:c.-5-1902A>G, rs2973049, rs9968598, NM_000514.3:c.152-1902A>G, NC_000005.9:g.37818139T>A, NC_000005.9:g.37818139T>C, NG_011675.2:g.26644A>G, NC_000005.10:g.37818037T>A, NC_000005.9:g.37818139=, rs58539161, NM_001278098.1:c.-5-1902A>G, NC_000005.10:g.37818037T>C, XM_011514028.1:c.152-1902A>G, NM_001190469.1:c.125-1902A>G, NM_001190468.1:c.203-1902A>G, XM_011514029.1:c.152-1902A>G +PA166156812 rs2975226 PA311 SLC6A3 NC_000005.10:1445501 3 1 0 0 0 NT_187547.1:g.64272T>A, NC_000005.10:g.1445501A>T, NC_000005.9:g.1445616A>T, NG_015885.1:g.4928T>A, NM_001044.4:c.-199T>A, NC_000005.10:g.1445501=, 59466722, NG_015885.1:g.4928=, NC_000005.9:g.1445616=, rs59466722, 2975226, rs2975226 +PA166252103 rs2977549 PA37372 CCN4 NC_000008.11:133229790 1 0 0 0 0 NC_000008.11:g.133229790C>T, NG_029529.1:g.43752=, NC_000008.10:g.134242033C>T, NC_000008.10:g.134242033=, NG_029529.1:g.43752C>A, NC_000008.11:g.133229790C>A, NC_000008.10:g.134242033C>A, rs2977549, 2977549, NC_000008.11:g.133229790=, NG_029529.1:g.43752C>T +PA166252102 rs2977551 PA37372 CCN4 NC_000008.11:133231307 1 0 0 0 0 NC_000008.10:g.134243550C>T, NC_000008.11:g.133231307=, rs2977551, NC_000008.10:g.134243550C>A, 2977551, 17713974, NG_029529.1:g.45269C>T, NC_000008.11:g.133231307C>T, NC_000008.10:g.134243550=, NC_000008.11:g.133231307C>A, NG_029529.1:g.45269C>A, NG_029529.1:g.45269= +PA166157587 rs2978926 NC_000008.11:6781904 1 0 0 0 0 NC_000008.10:g.6639425=, rs58364937, 2978926, rs2978926, NC_000008.11:g.6781904A>G, NC_000008.10:g.6639425A>G, rs57794753, 56514514, 58364937, rs56514514, 57794753, NC_000008.11:g.6781904= +PA166157588 rs2978931 NC_000008.11:6780560 1 0 0 0 0 NC_000008.11:g.6780560C>G, NC_000008.10:g.6638081C>T, 59726576, NC_000008.11:g.6780560C>A, 386578178, 2978931, rs2978931, NC_000008.10:g.6638081C>G, NC_000008.10:g.6638081C>A, rs59726576, rs386578178, NC_000008.11:g.6780560C>T, NC_000008.11:g.6780560=, NC_000008.10:g.6638081= +PA166184307 rs2980976 NC_000018.10:62412879 1 1 0 0 0 rs2980976, NC_000018.10:g.62412879=, NC_000018.10:g.62412879G>A, NC_000018.9:g.60080112=, NC_000018.9:g.60080112G>A, 61431461, 2980976 +PA166170121 rs2981359 PA311 SLC6A3 NC_000005.10:1442617 2 0 0 0 0 2981359, NC_000005.9:g.1442732G>T, NC_000005.9:g.1442732G>C, NG_015885.1:g.7812C>G, NC_000005.10:g.1442617G>C, NC_000005.10:g.1442617G>T, NC_000005.9:g.1442732=, 3776486, NG_015885.1:g.7812=, NC_000005.10:g.1442617=, NG_015885.1:g.7812C>A, rs2981359 +PA166154026 rs2981582 PA28128 FGFR2 NC_000010.11:121592803 2 0 0 0 0 rs45631640, rs2981582, 2981582, NM_001144918.1:c.109+906T>C, NG_012449.1:g.10656T>C, XM_006717710.2:c.166+906T>C, NM_001144914.1:c.109+906T>C, XM_006717709.2:c.166+906T>C, NM_023029.2:c.109+906T>C, NM_001144917.1:c.109+906T>C, XM_006717713.2:c.166+906T>C, NM_001144913.1:c.109+906T>C, NM_001144915.1:c.109+906T>C, XM_006717708.2:c.166+906T>C, NC_000010.10:g.123352317A>G, rs56718061, XM_006717712.2:c.166+906T>C, NM_001144916.1:c.109+906T>C, NC_000010.10:g.123352317=, 45631640, NC_000010.11:g.121592803=, NR_073009.1:n.756+906T>C, NM_000141.4:c.109+906T>C, NM_001144919.1:c.109+906T>C, 56718061, NG_012449.2:g.10656=, NM_022970.3:c.109+906T>C, NC_000010.11:g.121592803A>G, XM_006717711.2:c.166+906T>C, NG_012449.2:g.10656T>C +PA166178401 rs299293 PA29340 HMMR NC_000005.10:163482208 1 1 0 0 0 454807, NC_000005.9:g.162909214C>T, NC_000005.9:g.162909214=, rs299293, 299293, NC_000005.10:g.163482208C>T, NG_023309.1:g.26698=, NC_000005.10:g.163482208=, NG_023309.1:g.26698C>T +PA166178406 rs299313 PA29340 HMMR NC_000005.10:163486945 1 1 0 0 0 NC_000005.9:g.162913951G>A, NC_000005.10:g.163486945G>C, 1095341, NG_023309.1:g.31435G>A, rs299313, NC_000005.9:g.162913951G>C, NC_000005.10:g.163486945G>A, NC_000005.10:g.163486945=, 1226266, 17305799, NG_023309.1:g.31435=, 299313, NC_000005.9:g.162913951=, NG_023309.1:g.31435G>C +PA166178405 rs299314 PA29340 HMMR NC_000005.10:163487994 1 1 0 0 0 17385144, 299314, NC_000005.9:g.162915000T>C, NC_000005.10:g.163487994=, rs299314, NG_023309.1:g.32484=, NC_000005.10:g.163487994T>C, NC_000005.9:g.162915000=, NG_023309.1:g.32484T>C +PA166153725 rs3002130 NC_000001.11:222598797 1 0 0 0 0 NC_000001.11:g.222598797=, NC_000001.10:g.222772139=, NC_000001.10:g.222772139C>G, rs17465044, NC_000001.10:g.222772139C>T, NC_000001.11:g.222598797C>A, NC_000001.10:g.222772139C>A, rs3002130, NC_000001.11:g.222598797C>T, 3002130, 17465044, NC_000001.11:g.222598797C>G +PA166153726 rs3002142 NC_000001.11:222614720 1 0 0 0 0 NC_000001.10:g.222788062C>T, 3002142, NC_000001.10:g.222788062=, NC_000001.11:g.222614720C>T, rs3002142, NC_000001.11:g.222614720= +PA166153727 rs3002143 NC_000001.11:222615512 1 0 0 0 0 NC_000001.11:g.222615512=, NC_000001.10:g.222788854C>G, rs3002143, 3002143, NC_000001.11:g.222615512C>G, NC_000001.10:g.222788854=, NC_000001.11:g.222615512C>T, NC_000001.10:g.222788854C>T +PA166153728 rs3002145 PA143485536 MIA3 NC_000001.11:222633671 1 0 0 0 0 NC_000001.11:g.222633671=, NM_198551.3:c.3477+422C>T, NC_000001.10:g.222807013=, XM_005273121.1:c.3477+422C>T, NC_000001.10:g.222807013C>G, XM_006711304.2:c.3477+422C>T, XM_011509513.1:c.3477+422C>T, NC_000001.11:g.222633671C>G, 17530972, rs3002145, rs17530972, 3002145, XM_005273121.3:c.3477+422C>T, NC_000001.11:g.222633671C>T, NC_000001.10:g.222807013C>T +PA166211561 rs3003593 PA391 NR1I3 NC_000001.11:161233837 1 0 0 0 0 NG_029113.1:g.9374T>C, 35168532, NG_029113.1:g.9374=, 71517291, NC_000001.10:g.161203627=, NC_000001.10:g.161203627A>G, 28738963, rs3003593, 3003593, NC_000001.11:g.161233837=, NC_000001.11:g.161233837A>G +PA166153729 rs3003596 PA391 NR1I3 NC_000001.11:161234427 5 1 0 0 0 NG_029113.1:g.8784T>A, NG_029113.1:g.8784T>C, NM_001077480.2:c.239-1089T>C, NC_000001.10:g.161204217=, NM_001077472.2:c.152-1089T>C, NM_001077475.2:c.152-1089T>C, XM_005245695.1:c.455-1089T>C, XM_005245699.1:c.454+1420T>C, NC_000001.11:g.161234427=, NC_000001.11:g.161234427A>T, XM_005245698.1:c.454+1420T>C, XM_005245697.3:c.239-1089T>C, NM_001077471.2:c.239-1089T>C, XM_005245694.1:c.455-1089T>C, NM_001077477.2:c.152-1089T>C, NM_001077474.2:c.239-1089T>C, XM_005245694.3:c.455-1089T>C, NC_000001.10:g.161204217A>G, XM_005245697.1:c.239-1089T>C, XM_005245693.3:c.455-1089T>C, NC_000001.11:g.161234427A>G, NM_001077473.2:c.152-1089T>C, NG_029113.1:g.8784=, NM_001077476.2:c.152-1089T>C, NM_001077478.2:c.239-1089T>C, NM_005122.4:c.239-1089T>C, NM_001077481.2:c.239-1089T>C, NC_000001.10:g.161204217A>T, 3003596, rs3003596, XM_005245693.1:c.455-1089T>C, NM_001077469.2:c.239-1089T>C, NM_001077482.2:c.239-1089T>C, NM_001077470.2:c.152-1089T>C, XM_005245696.1:c.455-1089T>C, NM_001077479.2:c.152-1089T>C, XM_011510237.1:c.455-1089T>C +PA166153730 rs3008604 NC_000001.11:222609854 1 0 0 0 0 3008604, rs3008604, NC_000001.11:g.222609854=, NC_000001.10:g.222783196=, NC_000001.10:g.222783196T>C, NC_000001.11:g.222609854T>C, NC_000001.10:g.222783196T>A, NC_000001.11:g.222609854T>A +PA166153731 rs3008607 NC_000001.11:222612350 1 0 0 0 0 NC_000001.11:g.222612350A>G, NC_000001.11:g.222612350=, rs3008607, NC_000001.10:g.222785692=, NC_000001.10:g.222785692A>G, 3008607 +PA166153732 rs3008608 NC_000001.11:222612656 1 0 0 0 0 NC_000001.10:g.222785998A>G, NC_000001.11:g.222612656A>G, NC_000001.11:g.222612656=, 3008608, rs3008608, NC_000001.10:g.222785998= +PA166153733 rs3008610 PA143485536 MIA3 NC_000001.11:222618565 1 0 0 0 0 XM_006711304.2:c.133+322A>G, XM_011509513.1:c.133+322A>G, NC_000001.11:g.222618565A>T, NM_198551.3:c.133+322A>G, rs3008610, NC_000001.10:g.222791907=, NC_000001.10:g.222791907A>T, NC_000001.11:g.222618565A>G, 3008610, NC_000001.11:g.222618565=, NC_000001.11:g.222618565A>C, XM_005273121.1:c.133+322A>G, NC_000001.10:g.222791907A>G, NC_000001.10:g.222791907A>C, XM_005273121.3:c.133+322A>G +PA166153734 rs3008634 PA162376104 AIDA NC_000001.11:222672069 1 0 0 0 0 NC_000001.10:g.222845411=, NC_000001.11:g.222672069T>C, NM_022831.2:c.706+1244A>G, NC_000001.11:g.222672069=, NC_000001.11:g.222672069T>A, NC_000001.11:g.222672069T>G, NC_000001.10:g.222845411T>A, XR_921909.1:n.1322+1244A>G, NC_000001.10:g.222845411T>C, rs3008634, XR_247034.1:n.1152+1244A>G, NC_000001.10:g.222845411T>G, 3008634, XM_005273232.1:c.634+1244A>G +PA166157703 rs301434 PA35826,PA134880636 SLC1A1,SPATA6L NC_000009.12:4582082 1 1 0 0 0 XM_011518008.1:c.1203-956C>T, NC_000009.12:g.4582082C>T, 301434, NM_004170.5:c.1194-956C>T, XR_242510.1:n.1479+18571G>A, 57792400, NC_000009.11:g.4582082=, NC_000009.11:g.4582082C>G, NC_000009.12:g.4582082C>G, NG_017044.1:g.96656C>G, XM_011518009.1:c.1134-956C>T, rs301982, XM_011518007.1:c.1263-956C>T, XM_011518010.1:c.1053-956C>T, rs301434, NC_000009.12:g.4582082=, NG_017044.1:g.96656=, rs57792400, NG_017044.1:g.96656C>T, 301982, NC_000009.11:g.4582082C>T +PA166157704 rs301435 PA35826,PA134880636 SLC1A1,SPATA6L NC_000009.12:4582843 1 1 0 0 0 301435, XR_242510.1:n.1479+17810A>G, 301983, rs58595608, NC_000009.12:g.4582843=, XM_011518008.1:c.1203-195T>C, XM_011518010.1:c.1053-195T>C, XM_011518009.1:c.1134-195T>C, rs301983, rs301435, NM_004170.5:c.1194-195T>C, XM_011518007.1:c.1263-195T>C, NG_017044.1:g.97417=, 58595608, NC_000009.12:g.4582843T>C, NC_000009.11:g.4582843=, NG_017044.1:g.97417T>C, NC_000009.11:g.4582843T>C +PA166156284 rs301927 PA134866684 EPHA6 NC_000003.12:97627774 3 0 0 0 0 NC_000003.12:g.97627774G>A, NC_000003.11:g.97346618G>A, NM_001080448.2:c.2575-10099G>A, NM_173655.3:c.751-10099G>A, 301927, NM_001278300.1:c.751-10099G>A, rs61169431, NC_000003.11:g.97346618=, rs1684641, 1684641, 61169431, NC_000003.12:g.97627774=, XR_924127.1:n.1030-10099G>A, rs301927, XM_006713592.2:c.2623-10099G>A +PA166157057 rs3020314 PA156 ESR1 NC_000006.12:151949537 1 0 0 0 0 rs60734605, XM_006715374.2:c.1096+5029C>T, NM_001122741.1:c.1096+5029C>T, rs3020314, 3020314, NG_008493.1:g.264042C>T, XM_011535549.1:c.367+5029C>T, XM_011535544.1:c.1096+5029C>T, NM_001291241.1:c.1093+5029C>T, NC_000006.12:g.151949537=, XM_011535548.1:c.577+5029C>T, NM_001122742.1:c.1096+5029C>T, NC_000006.11:g.152270672=, XM_011535543.1:c.1096+5029C>T, NC_000006.11:g.152270672C>G, NG_008493.2:g.297847C>G, XM_011535547.1:c.1096+5029C>T, XM_005266857.1:c.1093+5029C>T, XM_006715375.2:c.577+5029C>T, NC_000006.12:g.151949537C>T, NG_008493.2:g.297847=, NC_000006.11:g.152270672C>T, NG_008493.2:g.297847C>T, 60734605, NC_000006.12:g.151949537C>G, XM_011535546.1:c.1096+5029C>T, NM_001122740.1:c.1096+5029C>T, NM_001291230.1:c.1102+5029C>T, XM_005266856.1:c.1102+5029C>T, NM_000125.3:c.1096+5029C>T, XM_011535545.1:c.1096+5029C>T +PA166154799 rs3020445 PA27886 ESR2 NC_000014.9:64321926 1 0 0 0 0 NM_001291723.1:c.-91+15972T>C, NC_000014.8:g.64788644=, NR_073496.1:n.653+15972T>C, rs3020445, 3020445, NR_073505.1:n.653+15972T>C, rs58948913, NC_000014.9:g.64321926=, NC_000014.8:g.64788644A>G, NC_000014.8:g.64788644A>C, NC_000014.9:g.64321926A>G, XM_011536546.1:c.-601-12743T>C, NG_011535.1:g.21625=, 58948913, rs6573556, 6573556, NG_011535.1:g.21625T>G, 4899133, rs4899133, NC_000014.9:g.64321926A>C, NG_011535.1:g.21625T>C, NM_001291712.1:c.-768+14487T>C +PA166155046 rs3024530 PA29832 IL4R NC_000016.10:27339366 1 1 0 0 0 XM_011545829.1:c.-163-820A>G, 60904591, NM_001257407.1:c.-307-820A>G, XM_011545827.1:c.-18-820A>G, XM_011545830.1:c.-163-820A>G, rs56617075, XR_243278.1:n.182-820A>G, XM_005255306.1:c.58-820A>G, 3024530, NM_001257406.1:c.-18-820A>G, 74249468, NC_000016.9:g.27350687=, NC_000016.10:g.27339366A>G, XM_011545826.1:c.-18-820A>G, XM_011545832.1:c.-163-820A>G, rs74249468, XM_005255307.1:c.-163-820A>G, XM_011545825.1:c.-18-820A>G, NM_000418.3:c.-18-820A>G, 3116574, rs3116574, XM_005255305.1:c.163-820A>G, NC_000016.9:g.27350687A>G, NG_012086.1:g.30437A>G, NC_000016.10:g.27339366=, XM_005255309.1:c.163-820A>G, rs3024530, 56617075, NG_012086.1:g.30437=, XM_011545831.1:c.-163-820A>G, XM_011545833.1:c.-2023A>G, rs60904591, NM_001257997.1:c.-493-820A>G +PA166176329 rs3024971 PA339 STAT6 NC_000012.12:57099944 2 0 0 0 0 NC_000012.11:g.57493727=, NG_021272.1:g.16470A>C, NC_000012.12:g.57099944T>G, rs3024971, NG_021272.2:g.37196A>C, NC_000012.12:g.57099944=, 3024971, NG_021272.1:g.16470=, NC_000012.11:g.57493727T>G, NG_021272.2:g.37196= +PA166157058 rs3025000 PA37302 VEGFA NC_000006.12:43778432 2 1 0 0 0 NM_001287044.1:c.232-28C>T, NM_001171626.1:c.316-28C>T, 3025000, NM_001171628.1:c.316-28C>T, NM_001025369.2:c.856-28C>T, NC_000006.11:g.43746169C>T, NC_000006.11:g.43746169=, NG_008732.1:g.13217=, NM_001025367.2:c.856-28C>T, NM_001171622.1:c.856-28C>T, NM_001171623.1:c.316-28C>T, XM_005249363.1:c.232-28C>T, 60421248, 3730318, NG_008732.1:g.13217C>T, rs3730318, NM_001171625.1:c.316-28C>T, NM_001171627.1:c.316-28C>T, rs60421248, rs3025000, NM_001171630.1:c.316-28C>T, NM_003376.5:c.856-28C>T, NC_000006.12:g.43778432=, NM_001171629.1:c.316-28C>T, NM_001317010.1:c.316-28C>T, NM_001025370.2:c.856-28C>T, NM_001025368.2:c.856-28C>T, NM_001033756.2:c.856-28C>T, NC_000006.12:g.43778432C>T, NM_001171624.1:c.316-28C>T, NM_001204384.1:c.316-28C>T, NM_001204385.1:c.856-28C>T, NM_001025366.2:c.856-28C>T +PA166157059 rs3025030 PA37302 VEGFA NC_000006.12:43782850 1 0 0 0 0 NM_001033756.2:c.1094+763G>C, NM_001171628.1:c.423-1691G>C, NM_001025369.2:c.1059+798G>C, NM_001204385.1:c.1035-1691G>C, NM_001025367.2:c.1148+763G>C, NM_001317010.1:c.554+763G>C, XM_005249363.1:c.470+763G>C, NM_001025366.2:c.1217+763G>C, rs3025030, NM_001171623.1:c.677+763G>C, NC_000006.12:g.43782850=, NG_008732.1:g.17635=, NC_000006.11:g.43750587G>C, NM_001171629.1:c.554+763G>C, NM_001287044.1:c.470+763G>C, NM_001025370.2:c.963-1691G>C, NC_000006.11:g.43750587=, rs16896816, NM_001171622.1:c.933-1691G>C, NG_008732.1:g.17635G>C, NM_001171625.1:c.608+763G>C, NM_001171626.1:c.554+763G>C, rs61356923, NM_003376.5:c.1166+763G>C, rs3799959, 3799959, 3025030, NM_001025368.2:c.1094+763G>C, NM_001171624.1:c.626+763G>C, NM_001171627.1:c.519+798G>C, NC_000006.12:g.43782850G>C, NM_001204384.1:c.495-1691G>C, 16896816, 61356923, NM_001171630.1:c.393-1691G>C +PA166157060 rs3025033 PA37302 VEGFA NC_000006.12:43783338 2 0 0 0 0 NM_001317010.1:c.555-1203A>G, NM_001204384.1:c.495-1203A>G, NC_000006.11:g.43751075=, NM_001171628.1:c.423-1203A>G, rs3778502, 3778502, NM_001171625.1:c.609-1203A>G, NG_008732.1:g.18123=, NC_000006.11:g.43751075A>G, rs3025033, NM_001171629.1:c.554+1251A>G, NM_001171626.1:c.555-1203A>G, NC_000006.12:g.43783338A>G, NC_000006.12:g.43783338=, 59547322, NM_001171630.1:c.393-1203A>G, rs59547322, NM_001204385.1:c.1035-1203A>G, NM_001171622.1:c.933-1203A>G, NM_001033756.2:c.1094+1251A>G, NM_001287044.1:c.471-1203A>G, NM_001025367.2:c.1149-1203A>G, NM_001025369.2:c.1060-1203A>G, NM_001171623.1:c.678-1203A>G, NM_001171624.1:c.627-1203A>G, NM_003376.5:c.1167-1203A>G, 3025033, NM_001025366.2:c.1218-1203A>G, XM_005249363.1:c.471-1203A>G, NG_008732.1:g.18123A>G, NM_001025370.2:c.963-1203A>G, NM_001025368.2:c.1095-1203A>G, NM_001171627.1:c.520-1203A>G +PA166157061 rs3025039 PA37302 VEGFA NC_000006.12:43784799 15 2 0 0 0 NM_001025369.2:c.*253C>T, NM_001025368.2:c.*237C>T, NM_001287044.1:c.*237C>T, NM_001171630.1:c.*237C>T, NC_000006.12:g.43784799C>T, NM_001025366.2:c.*237C>T, NM_001025367.2:c.*237C>T, NM_001171624.1:c.*237C>T, NM_001171625.1:c.*237C>T, NM_001171629.1:c.*171C>T, NM_001033756.2:c.*171C>T, rs3025039, NM_001171622.1:c.*237C>T, NM_001171626.1:c.*237C>T, XM_005249363.1:c.*237C>T, NM_001171623.1:c.*237C>T, NM_001317010.1:c.*171C>T, NC_000006.11:g.43752536=, NM_001204385.1:c.*237C>T, NM_001171628.1:c.*237C>T, 3025039, NC_000006.11:g.43752536C>T, rs11575898, NC_000006.12:g.43784799=, NM_001025370.2:c.*237C>T, NM_001171627.1:c.*253C>T, NM_001204384.1:c.*237C>T, NM_003376.5:c.*237C>T, NG_008732.1:g.19584C>T, 11575898, NG_008732.1:g.19584= +PA166159965 rs3025040 PA37302 VEGFA NC_000006.12:43785314 1 1 0 0 0 NG_008732.1:g.20099=, NC_000006.11:g.43753051C>T, NC_000006.12:g.43785314C>T, 3025040, NC_000006.11:g.43753051=, NC_000006.12:g.43785314=, rs3025040, NG_008732.1:g.20099C>T +PA166156101 rs3032740 PA24584,PA165378332 ADORA2A,ADORA2A-AS1 NC_000022.11:24439073_24439077 1 0 0 0 0 NC_000022.10:g.24835060_24835069del, NC_000022.10:g.24835040_24835041insTTTTT, NG_052804.1:g.20503_20505del, NR_028483.2:n.1544+221_1544+222insAAAAA, NR_103543.1:n.186-1511_186-1510insTTTTT, NC_000022.10:g.24835061_24835069del, NC_000022.10:g.24835063_24835069del, NC_000022.10:g.24835064_24835069del, NG_052804.1:g.20503_20505dup, NC_000022.11:g.24439101dup, NC_000022.10:g.24835062_24835069del, NG_052804.1:g.20500_20505dup, NC_000022.10:g.24835067_24835069del, NC_000022.10:g.24835066_24835069del, NC_000022.10:g.24835068_24835069del, NC_000022.10:g.24835065_24835069del, NC_000022.11:g.24439101del, NC_000022.11:g.24439100_24439101del, NG_052804.1:g.20499_20505dup, NG_052804.1:g.20497_20505del, NG_052804.1:g.20494_20505del, NM_001278500.1:c.333-1511_333-1510insTTTTT, NC_000022.10:g.24835069dup, NC_000022.10:g.24835067_24835069dup, NC_000022.10:g.24835068_24835069dup, NC_000022.11:g.24439092_24439101del, NC_000022.10:g.24835065_24835069dup, NC_000022.11:g.24439093_24439101del, NC_000022.11:g.24439100_24439101dup, NG_052804.1:g.20499_20505del, NR_028484.2:n.833+2919_833+2920insAAAAA, NC_000022.10:g.24835066_24835069dup, NG_052804.1:g.20497_20505dup, NC_000022.11:g.24439094_24439101del, NM_001278497.1:c.333-1511_333-1510insTTTTT, NC_000022.11:g.24439073_24439101=, NC_000022.11:g.24439086_24439101del, NC_000022.11:g.24439095_24439101del, NC_000022.11:g.24439097_24439101del, NC_000022.10:g.24835061_24835069dup, NG_052804.1:g.20493_20505del, NC_000022.10:g.24835063_24835069dup, NG_052804.1:g.20498_20505dup, NC_000022.11:g.24439085_24439101del, NC_000022.10:g.24835064_24835069dup, NC_000022.10:g.24835069del, NC_000022.11:g.24439089_24439101del, NC_000022.11:g.24439096_24439101del, NC_000022.11:g.24439072_24439073insTTTTT, NC_000022.11:g.24439088_24439101del, NC_000022.11:g.24439099_24439101del, NC_000022.11:g.24439087_24439101del, NC_000022.11:g.24439098_24439101del, NC_000022.10:g.24835062_24835069dup, NG_052804.1:g.20500_20505del, NG_052804.1:g.20498_20505del, NG_052804.1:g.20492_20505del, NC_000022.11:g.24439098_24439101dup, NG_052804.1:g.20495_20505del, NC_000022.11:g.24439095_24439101dup, NC_000022.11:g.24439099_24439101dup, NC_000022.10:g.24835041_24835069=, NG_052804.1:g.20489_20505del, NC_000022.11:g.24439096_24439101dup, NC_000022.10:g.24835053_24835069del, NC_000022.11:g.24439097_24439101dup, NC_000022.10:g.24835055_24835069del, NC_000022.10:g.24835057_24835069del, NG_052804.1:g.20504_20505dup, NC_000022.10:g.24835054_24835069del, NC_000022.10:g.24835058_24835069del, NG_052804.1:g.20501_20505del, NM_001278498.1:c.333-1511_333-1510insTTTTT, NG_052804.1:g.20504_20505del, NG_052804.1:g.20477_20505=, rs3032740, 3032740, NC_000022.11:g.24439091_24439101del, NC_000022.11:g.24439094_24439101dup, NG_052804.1:g.20501_20505dup, NM_000675.5:c.333-1511_333-1510insTTTTT, NC_000022.11:g.24439090_24439101del, NC_000022.11:g.24439093_24439101dup, NC_000022.10:g.24835056_24835069del, NM_001278499.1:c.333-1511_333-1510insTTTTT, NG_052804.1:g.20502_20505dup, NG_052804.1:g.20505dup, NG_052804.1:g.20491_20505del, NR_103546.1:n.4512-1511_4512-1510insTTTTT, NC_000022.10:g.24835059_24835069del, NG_052804.1:g.20502_20505del, NG_052804.1:g.20496_20505del, NR_103544.1:n.166-1511_166-1510insTTTTT, NG_052804.1:g.20505del, NG_052804.1:g.20490_20505del +PA166165188 rs304400 NC_000018.10:1100789 1 0 0 0 0 305480, NC_000018.10:g.1100789G>C, 604660, NC_000018.9:g.1100790G>A, NC_000018.9:g.1100790G>C, rs304400, NC_000018.9:g.1100790=, NC_000018.10:g.1100789=, NC_000018.10:g.1100789G>A, 304400, 61210449 +PA166153947 rs304478 PA29648 IFIT1 NC_000010.11:89391165 1 0 0 0 0 57082652, NC_000010.10:g.91150922G>T, NM_001548.4:c.-1548G>T, NM_001270930.1:c.-1876G>T, rs666227, rs304478, NC_000010.11:g.89391165=, NC_000010.11:g.89391165G>C, NC_000010.11:g.89391165G>A, NM_001270928.1:c.-1755G>T, rs57082652, NC_000010.10:g.91150922G>C, 666227, NC_000010.10:g.91150922G>A, NM_001270929.1:c.-1750G>T, NC_000010.11:g.89391165G>T, 304478, NM_001270927.1:c.-1645G>T, NC_000010.10:g.91150922= +PA166160497 rs3045983 PA143,PA31134 DHFR,MSH3 NC_000005.10:80654923_80654934 1 0 0 0 0 NG_023304.1:g.5051_5059del, NC_000005.9:g.79950745_79950753dup, NG_016607.2:g.5452_5460del, rs3045983, NG_016607.2:g.5452_5460dup, 3045983, NP_002430.3:p.Pro66_Pro69=, NC_000005.10:g.80654926_80654934del, NP_002430.3:p.64_66PAP[1], NC_000005.10:g.80654923_80654934=, NP_002430.3:p.64_66PAP[3], NG_023304.1:g.5048_5059=, NG_016607.1:g.5452_5460del, NC_000005.10:g.80654926_80654934dup, NC_000005.9:g.79950745_79950753del, NG_016607.1:g.5452_5460dup, NC_000005.9:g.79950742_79950753=, NG_016607.2:g.5449_5460=, NG_023304.1:g.5051_5059dup, NG_016607.1:g.5449_5460= +PA166182189 rs305968 PA27109 CYP2F1 NC_000019.10:41116284 1 1 0 0 0 NC_000019.10:g.41116284G>A, NG_007930.1:g.6837G>T, 305968, 3745282, NP_000765.2:p.Pro32=, NC_000019.10:g.41116284=, NC_000019.10:g.41116284G>T, 57699182, NG_007930.1:g.6837G>A, rs305968, NC_000019.9:g.41622189G>T, NG_007930.1:g.6837G>C, NC_000019.9:g.41622189G>C, NC_000019.9:g.41622189G>A, NC_000019.9:g.41622189=, NG_007930.1:g.6837=, NC_000019.10:g.41116284G>C +PA166156726 rs306104 PA26050 CAMK4 NC_000005.10:111295567 1 0 0 0 0 XR_948302.1:n.220-48457T>C, NM_001744.4:c.162-48457T>C, NC_000005.10:g.111295567=, rs306104, NC_000005.10:g.111295567T>G, rs59551416, NC_000005.10:g.111295567T>A, XM_005272094.1:c.-284-48457T>C, XR_948303.1:n.220-48457T>C, rs17522730, NC_000005.10:g.111295567T>C, NC_000005.9:g.110631265=, NC_000005.9:g.110631265T>G, XR_948301.1:n.220-48457T>C, NC_000005.9:g.110631265T>C, NC_000005.9:g.110631265T>A, 306104, 59551416, 17522730 +PA166159096 rs306468 PA162398028 NLRP8 NC_000019.10:55984027 1 0 0 0 0 668242, NG_046924.1:g.2245A>T, NG_046924.1:g.2245=, NC_000019.9:g.56495393A>T, NG_051553.1:g.41196A>T, rs306468, 306468, NC_000019.10:g.55984027A>T, NC_000019.10:g.55984027=, NC_000019.9:g.56495393=, NG_051553.1:g.41196= +PA166192561 rs3064744 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233760234 205 16 16 0 0 NG_002601.2:g.175492TA[10], 67162146, 67162141, NC_000002.12:g.233760235TA[9], NC_000002.12:g.233760235TA[5], NG_033238.1:g.4963TA[10], NG_033238.1:g.4963TA[6], NG_002601.2:g.175492TA[6], 59064535, NC_000002.11:g.234668881TA[10], NG_002601.2:g.175491_175505=, NG_002601.2:g.175492TA[11], rs3064744, rs8175347, 36208044, 72538037, NC_000002.11:g.234668881TA[6], NC_000002.12:g.233760235TA[6], NG_002601.2:g.175492TA[5], 72310212, NG_002601.2:g.175492TA[9], NC_000002.12:g.233760235TA[11], NC_000002.11:g.234668881TA[11], 138944467, NC_000002.11:g.234668881TA[9], 34815109, NC_000002.11:g.234668881TA[5], 397723790, NC_000002.12:g.233760235TA[7], NG_033238.1:g.4963TA[9], NG_033238.1:g.4963TA[8], UGT1A1*28, 67946806, 67946807, NG_002601.2:g.175492TA[8], 398048306, NC_000002.12:g.233760235TA[10], 397742477, NC_000002.12:g.233760234_233760248=, NG_033238.1:g.4962_4976=, NC_000002.11:g.234668881TA[8], 3064744, NC_000002.12:g.233760235TA[8], UGT1A1*36, UGT1A1*37, NG_033238.1:g.4963TA[11], NG_033238.1:g.4963TA[5], 796515945, 35600288, 67574274, 67574275, NC_000002.11:g.234668880_234668894=, 67574272, 67574273, 45557732, 67574270, 67574271, 143939460 +PA166156899 rs3077 PA35062 HLA-DPA1 NC_000006.12:33065245 1 1 0 0 0 XM_011548424.1:c.*71T>C, XM_011547875.1:c.*71T>C, NT_167248.1:g.4265473A>G, NT_167244.2:g.4369925A>G, rs3077, NT_167245.2:g.4308776A>G, NT_167249.2:g.4514228A>G, 61622557, NT_167248.2:g.4259877A>G, XM_011547241.1:c.*71T>C, 386579039, 116047128, NT_167245.1:g.4314361A>G, 117799789, rs61622557, XM_011514559.1:c.*71T>C, rs117799789, NM_033554.3:c.*115T>C, XM_011548232.1:c.*71T>C, NT_167247.1:g.4369895A>G, NC_000006.11:g.33033022A>G, NT_113891.3:g.4477096A>G, NT_167246.2:g.4484942A>G, XM_011547644.1:c.*71T>C, 3077, NT_113891.2:g.4477202A>G, NT_167247.2:g.4364310A>G, NT_167249.1:g.4513526A>G, XM_011546308.1:c.*71T>C, rs116047128, NG_033241.1:g.20534=, NC_000006.12:g.33065245A>G, NM_001242525.1:c.*115T>C, NG_033241.1:g.20534T>C, NC_000006.12:g.33065245=, rs386579039, NM_001242524.1:c.*115T>C, NT_167244.1:g.4319841A>G, XM_011548044.1:c.*71T>C, NC_000006.11:g.33033022=, NT_167246.1:g.4490562A>G +PA166156727 rs307805 PA28183 FLT4 NC_000005.10:180650487 1 0 0 0 0 NM_002020.4:c.-942A>G, 307805, NG_011536.1:g.4138A>G, NC_000005.10:g.180650487T>C, NC_000005.9:g.180077487T>C, rs57113127, NM_182925.4:c.-942A>G, NG_011536.1:g.4138=, NC_000005.9:g.180077487=, XM_011534483.1:c.-289A>G, NC_000005.10:g.180650487=, XM_011534482.1:c.-942A>G, 57113127, rs307805, rs1309960, 1309960 +PA166156728 rs307821 PA28183,PA34994 FLT4,SCGB3A1 NC_000005.10:180603313 3 1 0 0 0 NG_011536.1:g.51312G>A, XR_941095.1:n.4257G>T, rs307821, XP_011532786.1:p.Arg1171Leu, NG_011536.1:g.51312G>C, XM_011534484.1:c.3512G>T, XP_011532785.1:p.Arg1304Leu, XM_011534479.1:c.*117G>T, NC_000005.9:g.180030313C>G, NP_891555.2:p.Arg1324=, XP_011532780.1:p.Arg1401Leu, rs1309976, NG_011536.1:g.51312G>T, XM_011534483.1:c.3911G>T, XP_011532779.1:p.Arg1407Leu, 1309976, NP_891555.2:p.Arg1324Leu, XM_011534478.1:c.4202G>T, NC_000005.9:g.180030313C>T, NM_182925.4:c.3971G>T, NC_000005.9:g.180030313=, NG_011536.1:g.51312=, NC_000005.10:g.180603313C>G, NC_000005.10:g.180603313C>A, XP_011532784.1:p.Arg1330Leu, NP_891555.2:p.Arg1324Pro, NC_000005.9:g.180030313C>A, NP_891555.2:p.Arg1324Gln, XM_011534482.1:c.3989G>T, XM_011534477.1:c.4220G>T, 307821, NC_000005.10:g.180603313=, NC_000005.10:g.180603313C>T +PA166156729 rs307822 PA28183 FLT4 NC_000005.10:180601717 1 0 0 0 0 XM_011534478.1:c.*1475A>G, XM_011534483.1:c.*1475A>G, XM_011534484.1:c.*1475A>G, XM_011534477.1:c.*1475A>G, NC_000005.10:g.180601717T>G, NC_000005.9:g.180028717=, XM_011534482.1:c.*1475A>G, rs307822, NM_182925.4:c.*1475A>G, NG_011536.1:g.52908=, NG_011536.1:g.52908A>C, NC_000005.9:g.180028717T>C, NG_011536.1:g.52908A>G, NC_000005.9:g.180028717T>G, NC_000005.9:g.180028717T>A, rs1309977, NC_000005.10:g.180601717T>C, NC_000005.10:g.180601717=, 1309977, NG_011536.1:g.52908A>T, 307822, NC_000005.10:g.180601717T>A +PA166156730 rs307826 PA28183 FLT4 NC_000005.10:180624003 3 1 0 0 0 XP_011532783.1:p.Thr577Ala, NP_891555.2:p.Thr494Ala, XM_011534484.1:c.1021A>G, XP_011532785.1:p.Thr474Ala, 307826, NM_182925.4:c.1480A>G, NP_891555.2:p.Thr494Ser, XR_941095.1:n.1741A>G, NG_011536.1:g.30622=, NP_891555.2:p.Thr494=, NC_000005.10:g.180624003T>C, XM_011534477.1:c.1729A>G, XP_011532781.1:p.Thr577Ala, XP_011532786.1:p.Thr341Ala, XM_011534478.1:c.1711A>G, XM_011534482.1:c.1498A>G, XP_011532779.1:p.Thr577Ala, NC_000005.9:g.180051003=, NC_000005.10:g.180624003T>A, NC_000005.9:g.180051003T>C, XM_011534480.1:c.1729A>G, XM_011534481.1:c.1729A>G, XP_011532782.1:p.Thr577Ala, NG_011536.1:g.30622A>G, NC_000005.10:g.180624003=, NM_002020.4:c.1480A>G, NG_011536.1:g.30622A>T, XP_011532780.1:p.Thr571Ala, XM_011534479.1:c.1729A>G, XP_011532784.1:p.Thr500Ala, rs1309989, 1309989, NP_002011.2:p.Thr494Ala, XM_011534483.1:c.1420A>G, rs307826, NC_000005.9:g.180051003T>A +PA166163497 rs308395 PA28115 FGF2 NC_000004.12:122825787 1 1 0 0 0 NC_000004.12:g.122825787=, NC_000004.11:g.123746942C>A, NG_052023.1:g.198=, NG_029067.1:g.4080C>G, NG_029067.1:g.4080=, NG_029067.2:g.4080C>G, 3761719, NC_000004.11:g.123746942=, NC_000004.11:g.123746942C>G, NG_029067.2:g.4080C>A, NC_000004.12:g.122825787C>G, NG_052023.1:g.198C>A, rs308395, NG_029067.1:g.4080C>A, 308395, NC_000004.12:g.122825787C>A, NG_052023.1:g.198C>G, NG_029067.2:g.4080=, 57111014 +PA166155693 rs3087243 PA27006 CTLA4 NC_000002.12:203874196 4 1 0 0 0 3087243, rs3087243, rs56520936, NC_000002.12:g.203874196G>A, rs57994510, NM_005214.4:c.*1384G>A, XR_241294.1:n.2154G>A, NG_011502.1:g.11411G>A, 57552006, NC_000002.11:g.204738919G>A, 57994510, NM_001037631.2:c.*1421G>A, NG_011502.1:g.11411=, NC_000002.12:g.203874196=, 56520936, rs57552006, NC_000002.11:g.204738919= +PA166154900 rs3087374 PA162387928,PA33500 FANCI,POLG NC_000015.10:89316763 1 1 0 0 0 NC_000015.9:g.89859994=, NG_008218.1:g.23033G>T, NC_000015.10:g.89316763C>A, NM_001113378.1:c.*304C>A, XR_243212.1:n.3964C>A, NM_002693.2:c.3708G>T, 17804776, rs61472028, NP_001119603.1:p.Gln1236His, XM_011521766.1:c.*304C>A, XM_011521767.1:c.*304C>A, XM_011521756.1:c.*304C>A, XM_011521757.1:c.*304C>A, 386579081, XM_011521769.1:c.*304C>A, XM_011521758.1:c.*304C>A, XM_011521759.1:c.*304C>A, XM_005254950.1:c.*304C>A, XM_005254952.1:c.*304C>A, XM_005254951.1:c.*304C>A, NP_002684.1:p.Gln1236His, NG_011736.1:g.77801=, XM_005254953.1:c.*304C>A, 3087374, XM_005254949.1:c.*304C>A, rs3087374, XM_005254948.1:c.*304C>A, XM_005254947.1:c.*304C>A, rs3176244, NG_008218.2:g.23033=, XM_005254946.1:c.*304C>A, 3176244, rs17804776, NM_001126131.1:c.3708G>T, NM_018193.2:c.*304C>A, NG_008218.2:g.23033G>T, rs386579081, XM_011521765.1:c.*304C>A, XM_011521764.1:c.*304C>A, XM_011521763.1:c.*304C>A, XM_011521761.1:c.*304C>A, XM_011521762.1:c.*304C>A, 61472028, NP_002684.1:p.Gln1236=, NC_000015.10:g.89316763=, NG_011736.1:g.77801C>A, XM_011521760.1:c.*304C>A, XR_243211.1:n.4144C>A, NC_000015.9:g.89859994C>A +PA166155694 rs3087386 PA162401120 REV1 NC_000002.12:99439044 1 0 0 0 0 NC_000002.11:g.100055506=, rs58019413, XM_011511338.1:c.560T>C, NC_000002.11:g.100055506A>G, XM_005263967.1:c.770T>C, NC_000002.12:g.99439044A>G, 3749086, NP_057400.1:p.Phe257=, XR_244891.1:n.931T>C, XP_005264024.1:p.Phe257Ser, XR_922941.1:n.780T>C, 58019413, XM_011511336.1:c.770T>C, XP_005264025.1:p.Phe187Ser, rs3749086, NP_057400.1:p.Phe257Ser, NM_001037872.1:c.770T>C, XP_011509639.1:p.Phe257Ser, NC_000002.12:g.99439044=, NP_001032961.1:p.Phe257Ser, 3087386, rs3087386, XM_011511339.1:c.-825T>C, XM_011511337.1:c.770T>C, XP_011509640.1:p.Phe187Ser, XM_005263969.1:c.-825T>C, XR_427092.1:n.1151T>C, XM_005263968.1:c.560T>C, XP_011509638.1:p.Phe257Ser, NM_016316.2:c.770T>C +PA166155695 rs3087399 PA162401120 REV1 NC_000002.12:99438696 1 0 0 0 0 XR_244891.1:n.1279A>G, 57440453, NC_000002.12:g.99438696=, 3087399, rs3087399, NP_001032961.1:p.Asn373Ser, rs52791165, XM_011511336.1:c.1118A>G, XM_011511337.1:c.1118A>G, NM_016316.2:c.1118A>G, XM_005263969.1:c.-477A>G, XP_011509640.1:p.Asn303Ser, XM_005263968.1:c.908A>G, XP_011509639.1:p.Asn373Ser, NC_000002.12:g.99438696T>C, NP_057400.1:p.Asn373Ser, NC_000002.11:g.100055158T>C, XM_011511338.1:c.908A>G, XR_427092.1:n.1499A>G, XP_005264024.1:p.Asn373Ser, NP_057400.1:p.Asn373=, XP_005264025.1:p.Asn303Ser, XR_922941.1:n.1128A>G, XM_011511339.1:c.-477A>G, rs57440453, 52791165, XP_011509638.1:p.Asn373Ser, NC_000002.11:g.100055158=, NM_001037872.1:c.1118A>G, XM_005263967.1:c.1118A>G +PA166155696 rs3087403 PA162401120 REV1 NC_000002.12:99442408 1 1 0 0 0 XM_005263967.1:c.412G>A, XM_011511338.1:c.202G>A, NC_000002.11:g.100058870=, XP_005264024.1:p.Val138Met, rs52807598, 58647355, XR_244891.1:n.573G>A, rs17713429, NM_016316.2:c.412G>A, rs58647355, XM_005263968.1:c.202G>A, XP_011509638.1:p.Val138Met, 17713429, NC_000002.12:g.99442408C>T, NP_001032961.1:p.Val138Met, XP_005264025.1:p.Val68Met, XP_011509640.1:p.Val68Met, NP_057400.1:p.Val138=, 3087403, rs3087403, NC_000002.12:g.99442408=, 52807598, XM_011511336.1:c.412G>A, NP_057400.1:p.Val138Met, XR_922941.1:n.422G>A, NC_000002.11:g.100058870C>T, XR_427092.1:n.793G>A, XP_011509639.1:p.Val138Met, XM_011511337.1:c.412G>A, NM_001037872.1:c.412G>A +PA166161126 rs3087465 PA36486 TGFBR2 NC_000003.12:30605668 1 1 0 0 0 3087465, rs3087465, NG_007490.1:g.4167=, 61598650, NG_007490.1:g.4167A>G, NC_000003.11:g.30647160A>G, NC_000003.11:g.30647160=, 117444981, NC_000003.12:g.30605668=, NC_000003.12:g.30605668A>G, NC_000003.12:g.30605668A>T, NC_000003.11:g.30647160A>T, 36204665, 3806638, NG_007490.1:g.4167A>T +PA166157760 rs3087879 PA35826,PA134880636 SLC1A1,SPATA6L NC_000009.12:4586808 1 1 0 0 0 NM_004170.5:c.*1250G>C, 17813949, rs60696871, NC_000009.12:g.4586808=, XR_242510.1:n.1479+13845C>G, rs3087879, XM_011518009.1:c.*1250G>C, 3087879, NC_000009.12:g.4586808G>C, NC_000009.11:g.4586808G>C, XM_011518010.1:c.*1250G>C, XM_011518007.1:c.*1250G>C, 60696871, XM_011518008.1:c.*1250G>C, NC_000009.11:g.4586808=, rs17813949, NG_017044.1:g.101382=, NG_017044.1:g.101382G>C +PA166153735 rs3091244 PA120 CRP NC_000001.11:159714875 2 1 0 0 0 rs117342995, rs17860484, rs59168471, NC_000001.11:g.159714875=, 17860484, NC_000001.10:g.159684665=, NM_000567.2:c.-390C>T, 59168471, NC_000001.10:g.159684665G>A, 386579141, XM_011509207.1:c.-390C>T, NC_000001.11:g.159714875G>T, NG_013007.1:g.4715C>A, NC_000001.11:g.159714875G>A, NG_013007.1:g.4715=, XM_005244904.1:c.-390C>T, rs386579141, NC_000001.10:g.159684665G>T, NG_013007.1:g.4715C>T, rs3091244, 3091244, 117342995 +PA166153736 rs3093059 PA120 CRP NC_000001.11:159715346 1 0 0 0 0 NC_000001.10:g.159685136A>G, NC_000001.11:g.159715346A>G, XM_011509207.1:c.-861T>C, NC_000001.11:g.159715346=, rs16842586, 17860487, rs17860487, NG_013007.1:g.4244T>C, XM_005244904.1:c.-861T>C, 386579163, 16842586, NM_000567.2:c.-861T>C, NG_013007.1:g.4244=, rs386579163, 3093059, NC_000001.10:g.159685136=, rs3093059 +PA166155402 rs3093105 PA27121 CYP4F2 NC_000019.10:15897578 4 1 0 0 0 NC_000019.9:g.16008388=, NG_007971.2:g.5497=, NC_000019.9:g.16008388A>C, NP_001073.3:p.Trp12Gly, rs117322022, NG_007971.2:g.5497T>G, NP_001073.3:p.Trp12=, NC_000019.10:g.15897578=, NC_000019.10:g.15897578A>C, rs3093105, NM_001082.4:c.34T>G, 117322022, 3093105 +PA166165153 rs3093135 PA27121 CYP4F2 NC_000019.10:15893561 5 0 0 0 0 NG_007971.2:g.9514T>A, 3786997, NC_000019.10:g.15893561A>T, NC_000019.9:g.16004371A>T, 60462205, NC_000019.10:g.15893561=, rs3093135, NG_007971.2:g.9514=, NC_000019.9:g.16004371=, 16980904, 3093135 +PA166181975 rs3093153 PA27121 CYP4F2 NC_000019.10:15890405 1 0 0 0 0 56751925, NC_000019.10:g.15890405=, 17750271, NC_000019.10:g.15890405C>A, rs3093153, NC_000019.9:g.16001215=, 3093153, NG_007971.2:g.12670=, 52798286, NG_007971.2:g.12670G>T, NC_000019.9:g.16001215C>A, NP_001073.3:p.Gly185=, NP_001073.3:p.Gly185Val +PA166155403 rs3093158 PA27121 CYP4F2 NC_000019.10:15889356 1 0 0 0 0 NG_007971.2:g.13719G>T, NC_000019.10:g.15889356C>A, 58337631, NC_000019.9:g.16000166C>A, NC_000019.10:g.15889356C>G, NC_000019.9:g.16000166C>G, NG_007971.2:g.13719G>A, NC_000019.10:g.15889356=, NM_001082.4:c.918+67G>A, NG_007971.2:g.13719G>C, NG_007971.2:g.13719=, NC_000019.9:g.16000166=, rs58337631, 3093158, NC_000019.10:g.15889356C>T, rs3093158, NC_000019.9:g.16000166C>T +PA166155047 rs3093390 PA29821 IL21R NC_000016.10:27452127 1 0 0 0 0 NM_181079.4:c.*2844C>T, NM_181078.2:c.*2844C>T, 61246140, NG_012222.1:g.54726=, NG_012222.1:g.54726C>T, rs3093390, 3093390, NC_000016.10:g.27452127=, NC_000016.9:g.27463448C>T, NC_000016.9:g.27463448=, NC_000016.10:g.27452127C>T, NM_021798.3:c.*2844C>T, rs61246140, NR_037158.1:n.477+616G>A +PA166157062 rs3093548 PA435 TNF NC_000006.12:31575043 1 0 0 0 0 NT_167248.1:g.2836458C>T, NT_167247.2:g.2916941C>T, rs3093548, NT_167245.1:g.2828361C>T, 3093548, NG_007462.1:g.4471C>T, NT_167247.1:g.2922526C>T, NT_113891.2:g.3052436C>T, NT_167249.1:g.2873621C>T, NT_167248.2:g.2830862C>T, NC_000006.11:g.31542820C>T, NT_167246.2:g.2880084C>T, NC_000006.12:g.31575043C>T, NM_000594.3:c.-699C>T, NT_167249.2:g.2874323C>T, NC_000006.12:g.31575043=, NC_000006.11:g.31542820=, NG_007462.1:g.4471=, NT_167245.2:g.2822776C>T, NG_012010.1:g.7945=, NT_113891.3:g.3052330C>T, NT_167246.1:g.2885704C>T, NG_012010.1:g.7945C>T +PA166179032 rs3093662 PA435 TNF NC_000006.12:31576412 1 0 0 0 0 114071422, NC_000006.12:g.31576412A>G, NC_000006.11:g.31544189A>G, 117722060, 190204098, rs3093662, NC_000006.12:g.31576412=, NC_000006.11:g.31544189=, NG_007462.1:g.5840A>G, 3093662, NG_007462.1:g.5840=, 59291568 +PA166157063 rs3093726 PA37856,PA30474,PA30475,PA435 LST1,LTA,LTB,TNF NC_000006.12:31579012 1 1 0 0 0 NT_167249.1:g.2877590T>C, NC_000006.12:g.31579012T>C, NT_167247.1:g.2926495T=, NT_167247.1:g.2926495T>C, NT_167246.2:g.2884053T>C, NT_167247.2:g.2920910T>C, NT_167248.2:g.2834833T=, NT_113891.3:g.3056299T>C, NT_167244.2:g.2911591T>C, NT_167244.1:g.2861507T=, NT_167247.2:g.2920910T=, NT_113891.3:g.3056299T=, NG_007462.1:g.8440=, NT_113891.2:g.3056405T=, NG_007462.1:g.8440T>C, NT_167245.1:g.2832330C=, 146565584, NT_167249.2:g.2878292T=, NC_000006.11:g.31546789T=, NT_167244.1:g.2861507T>C, NT_167245.1:g.2832330C>T, NT_167246.1:g.2889673T=, rs3093726, NT_167246.2:g.2884053T=, 3093726, NT_167245.2:g.2826745C=, NT_167249.1:g.2877590T=, NT_167245.2:g.2826745C>T, NC_000006.12:g.31579012=, NT_167249.2:g.2878292T>C, NG_007462.1:g.8440T=, rs146565584, NT_167244.2:g.2911591T=, NT_167246.1:g.2889673T>C, NT_167248.1:g.2840429T=, NC_000006.11:g.31546789T>C, rs7764269, 7764269, NC_000006.12:g.31579012T=, NT_167248.2:g.2834833T>C, NT_113891.2:g.3056405T>C, NT_167248.1:g.2840429T>C, NC_000006.11:g.31546789= +PA166201502 rs3094086 PA134970730,PA134926573 HCG21,MUCL3 NC_000006.12:30951614 1 1 0 0 0 NC_000006.11:g.30919391G>A, 3094086, NC_000006.12:g.30951614=, NC_000006.11:g.30919391=, rs3094086, NP_543146.2:p.Ser1050=, NC_000006.12:g.30951614G>A, 58292185, 115548483 +PA166157064 rs3094188 PA33921 PSORS1C3 NC_000006.12:31174468 2 1 0 0 0 NT_167247.2:g.2518601A=, NT_167245.2:g.2433801A=, NC_000006.11:g.31142245C>T, rs59717132, NT_167246.2:g.2484988A=, NT_113891.3:g.2656909A=, NT_167245.2:g.2433801A>C, NT_167245.1:g.2439386A=, rs117514558, NT_113891.2:g.2657015A=, NT_167245.1:g.2439386A>C, NT_167249.2:g.2477899A>C, NT_167248.1:g.2438114A=, NC_000006.11:g.31142245C=, NT_167247.2:g.2518601A>C, rs113885435, NT_167247.1:g.2524186A=, NT_167248.2:g.2432518A=, NC_000006.11:g.31142245C>G, NC_000006.11:g.31142245C>A, NT_167248.1:g.2438114A>C, NC_000006.12:g.31174468C>A, NT_167246.1:g.2490608A>C, 113885435, NT_167249.2:g.2477899A=, NT_167249.1:g.2477197A=, NR_026816.1:n.262-198G>T, NR_026816.1:n.262-198T>G, NC_000006.12:g.31174468C=, NC_000006.12:g.31174468=, 116528482, NT_167249.1:g.2477197A>C, NT_167246.1:g.2490608A=, NC_000006.11:g.31142245=, NT_167246.2:g.2484988A>C, rs116528482, NC_000006.12:g.31174468C>G, 117514558, NT_113891.2:g.2657015A>C, NT_167247.1:g.2524186A>C, NT_167248.2:g.2432518A>C, NC_000006.12:g.31174468C>T, rs3094188, 3094188, NT_113891.3:g.2656909A>C, 59717132 +PA166157065 rs3097671 PA35062,PA35064 HLA-DPA1,HLA-DPB1 NC_000006.12:33079835 1 1 0 0 0 NT_167246.2:g.4499538G=, NT_167249.1:g.4528116G>C, NT_167244.1:g.4334419G>C, NC_000006.11:g.33047612G=, NT_167245.1:g.4328951G=, NG_000869.3:g.538=, XM_006725040.2:c.-912C>G, XM_006725040.2:c.-912G>C, NT_167248.1:g.4280069G>C, NG_033242.1:g.8910G=, NG_000869.2:g.637G=, NT_167247.2:g.4378888G=, XM_006725908.2:c.-912C>G, XM_006725908.2:c.-912G>C, XM_006715078.2:c.-912C>G, XM_006715078.2:c.-912G>C, NT_113891.2:g.4491791C=, NM_001242524.1:c.-100+845C>G, NM_001242524.1:c.-100+845G>C, NM_001242525.1:c.-24+845C>G, NM_001242525.1:c.-24+845G>C, NC_000006.11:g.33047612=, NT_167248.2:g.4274473G>C, NG_033241.1:g.5944C>G, NT_113891.3:g.4491685C=, NT_167244.2:g.4384503G=, NG_000869.2:g.637G>C, XM_006725699.2:c.-912C>G, XM_006725699.2:c.-912G>C, NC_000006.11:g.33047612G>C, rs3097671, NG_000869.3:g.538G>C, rs118047355, NG_033241.1:g.5944C=, NT_167244.1:g.4334419G=, NT_167249.2:g.4528818G>C, NM_002121.5:c.101-837C>G, NM_002121.5:c.101-837G>C, 3812232, NC_000006.12:g.33079835G>C, NT_167249.1:g.4528116G=, NT_167247.1:g.4384473G=, NT_113891.2:g.4491791C>G, NT_167248.2:g.4274473G=, XM_006726088.2:c.-912C>G, XM_006726088.2:c.-912G>C, NT_167246.2:g.4499538G>C, NG_033241.1:g.5944=, rs116100529, NT_167247.1:g.4384473G>C, 116100529, NG_033242.1:g.8910=, NG_033242.1:g.8910G>C, NT_167245.1:g.4328951G>C, NT_167249.2:g.4528818G=, XM_006725817.2:c.-912C>G, XM_006725817.2:c.-912G>C, NT_113891.3:g.4491685C>G, NC_000006.12:g.33079835=, NT_167246.1:g.4505158G>C, NT_167245.2:g.4323366G=, NT_167245.2:g.4323366G>C, NT_167246.1:g.4505158G=, NT_167248.1:g.4280069G=, NC_000006.12:g.33079835G=, NT_167247.2:g.4378888G>C, NT_167244.2:g.4384503G>C, 3097671, 118047355, rs3812232, XM_006725998.2:c.-912C>G, XM_006725998.2:c.-912G>C +PA166157066 rs3099844 PA142672032 CYCSP5 NC_000006.12:31481199 6 2 0 0 0 rs58471066, NT_167245.1:g.2734310C=, XR_926693.1:n.701G>T, NT_167249.2:g.2780450C>A, NT_167244.2:g.2813770C>A, NT_167249.1:g.2779748C=, NT_167245.1:g.2734310C>A, NT_167247.1:g.2828760C>A, 116662199, NC_000006.11:g.31448976C=, NT_167245.2:g.2728725C=, 58471066, NC_000006.12:g.31481199C>A, NC_000006.12:g.31481199=, NT_113891.3:g.2958528A=, NT_167244.1:g.2763686C=, 116841198, NT_167248.1:g.2742682C>A, NT_167248.1:g.2742682C=, rs116662199, rs3099844, 3099844, NT_167249.2:g.2780450C=, NC_000006.11:g.31448976=, NC_000006.11:g.31448976C>A, XR_926693.1:n.701G=, NT_167248.2:g.2737086C>A, NT_167247.2:g.2823175C=, NT_113891.3:g.2958528A>C, rs116841198, NT_167249.1:g.2779748C>A, NT_167248.2:g.2737086C=, XR_953042.1:n.531G=, XR_953042.1:n.531G>T, NT_167245.2:g.2728725C>A, NT_113891.2:g.2958634A>C, NC_000006.12:g.31481199C=, 7757186, rs7757186, NT_167244.1:g.2763686C>A, NT_167244.2:g.2813770C=, NT_167247.1:g.2828760C=, NT_113891.2:g.2958634A=, NT_167247.2:g.2823175C>A +PA166281482 rs3100 PA37188 UGT2B15 NC_000004.12:68646936 1 0 0 0 0 NC_000004.11:g.69512654G>T, NC_000004.12:g.68646936G>T, 3100, 17146623, NG_052676.1:g.28841C>A, rs3100, 17146621, 7661667, 4148270, NC_000004.12:g.68646936G>A, NG_052676.1:g.28841C>T, NC_000004.12:g.68646936=, NC_000004.11:g.69512654=, 111616245, NC_000004.11:g.69512654G>A, NG_052676.1:g.28841=, 62299483 +PA166157589 rs3102724 PA36602 TNFRSF11B NC_000008.11:118934568 1 0 0 0 0 NC_000008.11:g.118934568=, NC_000008.11:g.118934568G>A, NG_012202.1:g.22577C>T, NM_002546.3:c.31-1268C>T, 3102724, 56621512, NG_012202.1:g.22577=, rs3102724, 58395725, NC_000008.10:g.119946807G>A, NC_000008.10:g.119946807=, rs56621512, rs58395725 +PA166157590 rs3102728 PA36602 TNFRSF11B NC_000008.11:118944066 1 0 0 0 0 NC_000008.10:g.119956305T>C, NG_012202.1:g.13079A>G, NC_000008.11:g.118944066T>C, NM_002546.3:c.30+7726A>G, NG_012202.1:g.13079=, 3102728, rs3102728, rs17830846, 17830846, NC_000008.10:g.119956305=, NC_000008.11:g.118944066= +PA166312841 rs310279 NC_000008.11:23760950 1 0 0 0 0 rs310279, 310279, 446545, NC_000008.11:g.23760950A>G, NC_000008.10:g.23618463=, NC_000008.10:g.23618463A>G, NC_000008.11:g.23760950= +PA166154495 rs310786 PA134894421 E2F7 NC_000012.12:77042368 2 2 0 0 0 NC_000012.11:g.77436148=, rs310786, NC_000012.11:g.77436148C>T, rs58107313, NM_203394.2:c.1123+697G>A, XM_011537969.1:c.820+697G>A, 310786, NC_000012.12:g.77042368=, 58107313, XM_011537967.1:c.847+697G>A, NC_000012.12:g.77042368C>T, XM_011537968.1:c.832+697G>A, XM_011537966.1:c.988+2269G>A +PA166156570 rs3109823 PA390 ABCG2 NC_000004.12:88143450 1 0 0 0 0 XM_005263356.1:c.-19-3436G>A, NC_000004.12:g.88143450=, NM_004827.2:c.-19-3436G>A, 56631287, NG_032067.2:g.92873G>A, XM_011532420.1:c.-19-3436G>A, 3109823, XM_005263355.1:c.-19-3436G>A, rs3109823, XM_005263356.2:c.-19-3436G>A, rs59663973, XM_005263355.2:c.-19-3436G>A, XM_005263354.1:c.-19-3436G>A, rs56631287, NC_000004.11:g.89064602C>T, NM_001257386.1:c.-19-3436G>A, NG_032067.2:g.92873=, NC_000004.12:g.88143450C>T, 59663973, NC_000004.11:g.89064602=, XM_005263354.2:c.-19-3436G>A +PA166157372 rs3110697 PA29705 IGFBP3 NC_000007.14:45915430 1 0 0 0 0 NC_000007.14:g.45915430A>G, NM_001013398.1:c.769-485T>C, XM_005249743.1:c.460-485T>C, 386579587, NC_000007.13:g.45955029A>T, 59896265, rs386579587, NC_000007.14:g.45915430A>T, rs3110697, NM_000598.4:c.751-485T>C, 3110697, NC_000007.14:g.45915430=, NC_000007.13:g.45955029A>G, NG_011508.1:g.10843T>C, NG_011508.1:g.10843=, rs59896265, NG_011508.1:g.10843T>A, NC_000007.13:g.45955029= +PA166156571 rs3114018 PA390 ABCG2 NC_000004.12:88143429 3 0 0 0 0 XM_005263354.2:c.-19-3415T>G, NC_000004.12:g.88143429A>T, NM_004827.2:c.-19-3415T>G, XM_005263356.2:c.-19-3415T>G, NG_032067.2:g.92894=, XM_005263355.1:c.-19-3415T>G, XM_011532420.1:c.-19-3415T>G, NM_001257386.1:c.-19-3415T>G, XM_005263354.1:c.-19-3415T>G, NC_000004.11:g.89064581A>T, NC_000004.12:g.88143429A>G, NG_032067.2:g.92894T>G, NC_000004.12:g.88143429A>C, NG_032067.2:g.92894T>C, NC_000004.12:g.88143429=, NG_032067.2:g.92894T>A, rs17731703, 60824629, NC_000004.11:g.89064581A>C, 3114018, XM_005263356.1:c.-19-3415T>G, rs3114018, NC_000004.11:g.89064581=, rs60824629, 17731703, NC_000004.11:g.89064581A>G, XM_005263355.2:c.-19-3415T>G +PA166156572 rs3114020 PA390 ABCG2 NC_000004.12:88162514 5 1 0 0 0 NM_001257386.1:c.-19-22500A>G, rs13137608, NC_000004.11:g.89083666T>C, NC_000004.12:g.88162514=, rs3114020, NG_032067.2:g.73809=, 3114020, NC_000004.12:g.88162514T>G, NC_000004.12:g.88162514T>C, NG_032067.2:g.73809A>C, XM_005263355.2:c.-19-22500A>G, 13137608, XM_005263355.1:c.-19-22500A>G, NC_000004.11:g.89083666=, NC_000004.11:g.89083666T>G, XM_011532420.1:c.-19-22500A>G, NG_032067.2:g.73809A>G +PA166201505 rs3115672 PA31136 MSH5 NC_000006.12:31760120 1 1 0 0 0 NP_079535.4:p.Thr589=, 115874801, NC_000006.12:g.31760120C>T, NC_000006.11:g.31727897=, 141736701, NG_011611.1:g.25124=, 58697978, NC_000006.12:g.31760120=, NG_011611.1:g.25124C>T, rs3115672, 3115672, NC_000006.11:g.31727897C>T +PA166163331 rs3116149 PA35902 SLC5A2 NC_000016.10:31484405 1 0 0 0 0 3116149, NC_000016.10:g.31484405G>A, NC_000016.9:g.31495726G>A, rs3116149, NG_012892.1:g.6288G>A, NC_000016.9:g.31495726=, NC_000016.10:g.31484405=, NG_012892.1:g.6288= +PA166163333 rs3116150 PA35902 SLC5A2 NC_000016.10:31486700 1 0 0 0 0 NG_012892.1:g.8583G>A, NC_000016.9:g.31498021=, 17641799, NC_000016.9:g.31498021G>A, NC_000016.10:g.31486700G>A, 386579660, 3116150, NC_000016.10:g.31486700=, NG_012892.1:g.8583=, rs3116150 +PA166156715 rs31244 PA134888452 SV2C NC_000005.10:76298918 1 0 0 0 0 NM_014979.3:c.1627G>A, NM_001297716.1:c.1627G>A, XM_005248470.1:c.1627G>A, NC_000005.9:g.75594743=, NP_001284645.1:p.Asp543Asn, XP_005248527.1:p.Asp543Asn, XP_011541583.1:p.Asp543Asn, NP_055794.3:p.Asp543=, NP_055794.3:p.Asp543Asn, 31244, rs58027942, NC_000005.10:g.76298918=, XR_948491.1:n.272-733C>T, rs31244, NC_000005.10:g.76298918G>A, XM_011543282.1:c.874G>A, XP_011541584.1:p.Asp292Asn, NC_000005.9:g.75594743G>A, 58027942, XM_011543281.1:c.1627G>A +PA166177185 rs3124955 PA28070 FCN2 NC_000009.12:134882699 1 1 0 0 0 NC_000009.12:g.134882699=, NC_000009.11:g.137774545T>C, NG_011649.1:g.6888=, rs3124955, NG_011649.1:g.6888T>C, 3124955, NC_000009.12:g.134882699T>C, NC_000009.11:g.137774545=, 59638886 +PA166177186 rs3128624 PA28070 FCN2 NC_000009.12:134883293 1 1 0 0 0 3128624, NC_000009.11:g.137775139=, rs3128624, NG_011649.1:g.7482A>T, NC_000009.12:g.134883293A>T, NC_000009.11:g.137775139A>T, NG_011649.1:g.7482A>G, 17514143, NC_000009.12:g.134883293A>G, NG_011649.1:g.7482=, NC_000009.11:g.137775139A>G, 28357090, NC_000009.12:g.134883293= +PA166157067 rs3129294 PA35065 HLA-DPB2 NC_000006.12:33116894 1 1 0 0 0 NT_167244.1:g.4371434A=, NT_167248.1:g.4317163A>C, NT_113891.2:g.4528780C=, NT_167247.1:g.4421488A=, NT_167248.2:g.4311567A>C, NT_113891.2:g.4528780C>A, NC_000006.12:g.33116894=, NT_167248.1:g.4317163A=, NC_000006.11:g.33084671A>C, rs3129294, NT_113891.3:g.4528674C=, NT_167247.1:g.4421488A>C, NC_000006.11:g.33084671A=, NT_167248.2:g.4311567A=, 3129294, NT_167246.1:g.4542256A=, NT_167249.2:g.4565860C=, NT_167244.1:g.4371434A>C, rs117469093, 115401827, NC_000006.11:g.33084671=, NT_113891.3:g.4528674C>A, NT_167246.2:g.4536636A>C, 111872825, NT_167249.1:g.4565158C=, NT_167244.2:g.4421518A>C, NT_167249.2:g.4565860C>A, NT_167247.2:g.4415903A=, NT_167244.2:g.4421518A=, NT_167249.1:g.4565158C>A, 117469093, NC_000006.12:g.33116894A=, NT_167246.2:g.4536636A=, rs115401827, NT_167246.1:g.4542256A>C, NC_000006.12:g.33116894A>C, NT_167247.2:g.4415903A>C, rs111872825 +PA166181783 rs3129880 PA35071 HLA-DRA NC_000006.12:32441140 1 0 0 0 0 NC_000006.11:g.32408917T>C, NG_002392.2:g.5475C>G, NG_002392.2:g.5475C>T, NC_000006.12:g.32441140T>G, NC_000006.11:g.32408917T>G, 141421538, 56914284, 113017249, NC_000006.11:g.32408917=, NC_000006.12:g.32441140T>C, NC_000006.12:g.32441140=, rs3129880, 3129880, 9268650 +PA166156477 rs3130 PA33807 PROM1 NC_000004.12:15968315 1 0 0 0 0 NC_000004.12:g.15968315=, XM_011513896.1:c.*1078A>G, XM_011513894.1:c.*1078A>G, NC_000004.12:g.15968315T>C, XM_005248196.1:c.*1078A>G, rs3130, XM_011513890.1:c.*1078A>G, NC_000004.12:g.15968315T>A, XM_011513892.1:c.*1078A>G, rs17477709, NM_001145851.1:c.*1078A>G, NM_001145848.1:c.*1078A>G, 56565902, NC_000004.11:g.15969938=, NG_011696.2:g.120745=, 3194369, NG_011696.2:g.120745A>G, 3130, rs11552440, NM_001145852.1:c.*1078A>G, NC_000004.11:g.15969938T>A, NC_000004.11:g.15969938T>C, NG_011696.2:g.120745A>T, 60023481, XM_011513897.1:c.*1078A>G, rs60646405, XM_011513893.1:c.*1078A>G, NG_011696.1:g.120686=, rs7752, XM_011513891.1:c.*1078A>G, XM_011513904.1:c.*1078A>G, rs56565902, rs60023481, NM_001145847.1:c.*1078A>G, NM_001145850.1:c.*1078A>G, NM_001145849.1:c.*1078A>G, NM_006017.2:c.*1078A>G, XM_005248195.3:c.*1078A>G, 11552440, XM_005248196.3:c.*1078A>G, 7752, rs3194369, XM_006713974.2:c.*1078A>G, XM_011513900.1:c.*1078A>G, XM_011513903.1:c.*1078A>G, NG_011696.1:g.120686A>G, XM_005248195.1:c.*1078A>G, NG_011696.1:g.120686A>T, XM_011513902.1:c.*1078A>G, XM_005248194.1:c.*1078A>G, XM_011513901.1:c.*1078A>G, 60646405, XM_011513895.1:c.*1078A>G, 17477709 +PA166157068 rs3130100 PA36331,PA37661 TAPBP,ZBTB22 NC_000006.12:33315989 1 1 0 0 0 NC_000006.12:g.33315989=, XM_005275448.1:c.-1948A>G, XM_005275448.1:c.-1948G>A, NM_003190.4:c.-1948A>G, NM_003190.4:c.-1948G>A, NT_167248.2:g.4510416C>T, NG_009876.1:g.3224A=, NT_167245.2:g.4559504C>T, XM_005275286.1:c.-1948A>G, XM_005275286.1:c.-1948G>A, NT_167247.1:g.4757508T=, NT_167247.2:g.4751923T>C, NT_167248.2:g.4510416C=, XM_011514828.1:c.-1948A>G, XM_011514828.1:c.-1948G>A, NT_113891.3:g.4727472C=, NT_167247.2:g.4751923T=, XM_005272864.1:c.-1948A>G, XM_005272864.1:c.-1948G>A, NT_113891.2:g.4727578C=, NT_113891.2:g.4727578C>T, NC_000006.11:g.33283766=, NT_167245.2:g.4559504C=, 117619983, rs17856567, NG_009876.1:g.3224=, XM_005275017.1:c.-1948A>G, XM_005275017.1:c.-1948G>A, 3130100, NM_001145338.1:c.928A>G, rs146168776, NT_113891.3:g.4727472C>T, NT_167245.1:g.4565089C>T, NT_167245.1:g.4565089C=, 17856567, 115558214, NG_009876.1:g.3224A>G, NP_001138810.1:p.Thr310=, NT_167247.1:g.4757508T>C, NP_005444.4:p.Thr310=, 57230775, XM_011548077.1:c.-1948A>G, XM_011548077.1:c.-1948G>A, NT_167248.1:g.4516012C=, NM_005453.4:c.928A=, NP_001138810.1:p.Thr310Ala, XM_011548266.1:c.-1948A>G, XM_011548266.1:c.-1948G>A, XM_005249333.1:c.-1948A>G, XM_005249333.1:c.-1948G>A, NM_005453.4:c.928A>G, NP_005444.4:p.Thr310Ala, rs115558214, XM_011547276.1:c.-1948A>G, XM_011547276.1:c.-1948G>A, NC_000006.12:g.33315989T>C, XM_011547679.1:c.-1948A>G, XM_011547679.1:c.-1948G>A, 146168776, NC_000006.12:g.33315989T=, NT_167248.1:g.4516012C>T, NM_001145338.1:c.928A=, NC_000006.11:g.33283766T>C, rs3130100, NM_172209.2:c.-1948A>G, NM_172209.2:c.-1948G>A, rs57230775, NC_000006.11:g.33283766T=, NM_172208.2:c.-1948A>G, NM_172208.2:c.-1948G>A, rs117619983 +PA166157069 rs3130501 PA33545 POU5F1 NC_000006.12:31168676 2 1 0 0 0 NT_167248.1:g.2432322G=, NM_203289.5:c.-2734T>C, NC_000006.12:g.31168676=, NT_167249.2:g.2472108G>A, NC_000006.11:g.31136453A=, NM_001173531.2:c.-2248T>C, NC_000006.12:g.31168676A>T, NT_167246.2:g.2479192G>A, NT_167248.2:g.2426726G=, NT_167247.2:g.2512806G=, NT_167249.1:g.2471406G>A, NT_113891.3:g.2651114G>A, NC_000006.11:g.31136453A>G, NM_001285987.1:c.-2509C>T, NT_113891.2:g.2651220G=, NT_167249.2:g.2472108G=, NT_167245.1:g.2433591G=, NM_001285986.1:c.-3037C>T, NT_167248.1:g.2432322G>A, NT_113891.2:g.2651220G>A, 3130501, NM_002701.5:c.405+1540T>C, NC_000006.11:g.31136453A>T, NC_000006.12:g.31168676A>G, NT_167245.1:g.2433591G>A, NC_000006.11:g.31136453=, NT_167247.1:g.2518391G=, NT_167245.2:g.2428006G>A, NM_203289.5:c.-2734C>T, 57279569, NT_167246.1:g.2484812G=, 117532372, rs115164593, NT_167248.2:g.2426726G>A, 115164593, NM_001173531.2:c.-2248C>T, NT_167245.2:g.2428006G=, NT_113891.3:g.2651114G=, NT_167249.1:g.2471406G=, rs117532372, NT_167247.2:g.2512806G>A, NC_000006.12:g.31168676A=, NM_001285987.1:c.-2509T>C, NT_167247.1:g.2518391G>A, NM_001285986.1:c.-3037T>C, rs3130501, NT_167246.1:g.2484812G>A, NM_002701.5:c.405+1540C>T, rs57279569, NT_167246.2:g.2479192G= +PA166157070 rs3130690 NC_000006.12:31318158 1 0 0 0 0 NT_167248.1:g.2579419T=, 61532808, NT_167249.1:g.2619646T=, NC_000006.11:g.31285935G>T, NT_167249.2:g.2620348T=, NC_000006.11:g.31285935G=, NT_113891.3:g.2799067G=, NT_167249.2:g.2620348T>G, 76533737, rs3130690, NT_167246.1:g.2632844G=, 3130690, 116753199, NT_113891.2:g.2799173G=, NT_113891.2:g.2799173G>T, NC_000006.12:g.31318158G>T, NT_167247.2:g.2660852G>T, NT_167248.2:g.2573823T=, NT_167246.1:g.2632844G>T, rs116753199, NT_167247.1:g.2666437G=, NC_000006.11:g.31285935=, XM_011548511.1:c.49+946A>C, XM_011548511.1:c.49+946C>A, NT_167247.2:g.2660852G=, NT_167249.1:g.2619646T>G, NT_113891.3:g.2799067G>T, NT_167247.1:g.2666437G>T, rs61532808, 9265040, rs9265040, NC_000006.12:g.31318158=, NT_167248.2:g.2573823T>G, NT_167248.1:g.2579419T>G, rs76533737, NC_000006.12:g.31318158G= +PA166201527 rs3130907 PA134951826 HCP5 NC_000006.12:31464036 1 1 0 0 0 NC_000006.12:g.31464036=, NC_000006.11:g.31431813=, 117131600, rs3130907, 3130907, 17200501, 116162221, NC_000006.12:g.31464036A>G, NC_000006.11:g.31431813A>G +PA166157071 rs3130931 PA33545,PA36384 POU5F1,TCF19 NC_000006.12:31167111 2 1 0 0 0 NT_167247.2:g.2511241C>T, NT_167247.2:g.2511241C=, NT_167245.1:g.2432027T>C, NM_001285986.1:c.-1472A>G, NM_203289.5:c.-1169A>G, NM_001173531.2:c.-683A=, NM_001285987.1:c.-944A>G, NT_167249.1:g.2469840C>T, NT_167248.1:g.2430755C>T, NT_167247.1:g.2516826C>T, NT_167246.1:g.2483247C=, NC_000006.11:g.31134888T=, NT_167248.2:g.2425159C>T, NC_000006.12:g.31167111=, NT_167249.2:g.2470542C=, NT_167249.1:g.2469840C=, NM_203289.5:c.-1169A=, NT_167248.1:g.2430755C=, XM_005272868.1:c.*103C>T, NT_167246.2:g.2477627C=, 116274342, NT_167249.2:g.2470542C>T, NM_002701.5:c.406-1064A>G, NM_002701.5:c.406-1064G>A, rs118179370, NT_167247.1:g.2516826C=, NM_001173531.2:c.-683A>G, NC_000006.12:g.31167111T=, rs9263801, 9263801, NT_113891.3:g.2649550C>T, NC_000006.11:g.31134888=, NM_001285986.1:c.-1472A=, NT_167245.1:g.2432027T=, XM_005272868.1:c.*103C=, NM_001285987.1:c.-944A=, rs3130931, rs57720136, 3130931, NT_167245.2:g.2426442T=, NT_167245.2:g.2426442T>C, NC_000006.11:g.31134888T>C, NT_113891.3:g.2649550C=, 57720136, NC_000006.11:g.31134888T>A, NC_000006.12:g.31167111T>A, NC_000006.12:g.31167111T>C, NT_167248.2:g.2425159C=, NT_167246.1:g.2483247C>T, NT_167246.2:g.2477627C>T, rs116274342, 118179370 +PA166201526 rs3130985 PA26348,PA33919 CDSN,PSORS1C1 NC_000006.12:31117579 1 1 0 0 0 NG_012192.1:g.7868G>T, NC_000006.12:g.31117579=, 9263657, NG_021348.1:g.7749C>A, NG_012192.1:g.7868=, 114174068, NC_000006.12:g.31117579C>T, NG_021348.1:g.7749C>T, 112657160, NC_000006.12:g.31117579C>A, NG_012192.1:g.7868G>A, NG_021348.1:g.7749=, NC_000006.11:g.31085356C>A, NC_000006.11:g.31085356C>T, rs3130985, 3130985, NC_000006.11:g.31085356= +PA166176035 rs3131003 PA33919 PSORS1C1 NC_000006.12:31125705 1 1 0 0 0 138243125, NG_021348.1:g.15875G>T, NC_000006.12:g.31125705=, NC_000006.12:g.31125705G>T, 3815090, NC_000006.11:g.31093482G>T, 111767929, 112811551, NG_021348.1:g.15875=, NG_021348.1:g.15875G>C, NG_021348.1:g.15875G>A, NC_000006.12:g.31125705G>A, NC_000006.12:g.31125705G>C, rs3131003, 3131003, NC_000006.11:g.31093482G>C, NC_000006.11:g.31093482=, NC_000006.11:g.31093482G>A, 57095075 +PA166157761 rs3132291 PA34890 RXRA NC_000009.12:134441072 1 0 0 0 0 rs60425073, NC_000009.11:g.137332918G>T, NM_001291921.1:c.*4458G>A, rs17813184, NM_001291920.1:c.*4458G>A, NC_000009.12:g.134441072=, 3132291, rs3132291, NC_000009.12:g.134441072G>A, NC_000009.11:g.137332918G>A, rs35625790, XM_005263416.1:c.*3039G>A, 60425073, NM_002957.5:c.*4458G>A, 35625790, 17813184, NC_000009.12:g.134441072G>T, NC_000009.11:g.137332918= +PA166154394 rs3133084 NC_000011.10:126157578 1 1 0 0 0 NC_000011.9:g.126027473A>G, NC_000011.9:g.126027473A>T, NC_000011.9:g.126027473A>C, NC_000011.10:g.126157578A>C, NC_000011.9:g.126027473=, NC_000011.10:g.126157578A>T, rs59153754, NC_000011.10:g.126157578A>G, 59153754, NC_000011.10:g.126157578=, rs3133084, 3133084 +PA166157591 rs3134068 PA26736,PA36602 COLEC10,TNFRSF11B NC_000008.11:118950420 1 0 0 0 0 NC_000008.11:g.118950420T>C, NG_012202.1:g.6725A>G, NG_012202.1:g.6725=, NC_000008.10:g.119962659T>C, rs3134068, 3134068, XM_005250756.2:c.-2018T>C, NC_000008.10:g.119962659=, NC_000008.11:g.118950420=, NM_002546.3:c.30+1372A>G, rs4876871, 4876871, XM_005250756.1:c.-2018T>C +PA166153948 rs313458 NC_000010.11:4674980 1 0 0 0 0 XR_930595.1:n.1757-1685T>C, NC_000010.10:g.4717172T>A, NC_000010.11:g.4674980=, NC_000010.10:g.4717172T>C, XR_930596.1:n.1746-1685T>C, rs313458, NC_000010.10:g.4717172T>G, NR_024475.1:n.22+3069A>G, NC_000010.11:g.4674980T>C, 313458, NC_000010.11:g.4674980T>A, NC_000010.10:g.4717172=, NC_000010.11:g.4674980T>G, rs17370775, 17370775 +PA166157072 rs3135388 PA35071 HLA-DRA NC_000006.12:32445274 1 0 0 0 0 NT_187692.1:g.9459T=, NG_002392.2:g.9574G=, NT_167249.2:g.3760423G=, 58941551, NT_167247.1:g.3791831G>A, NC_000006.11:g.32413051=, NT_167249.1:g.3759721G>A, XM_005272808.1:c.*634A>G, XM_005272808.1:c.*634G>A, NT_167246.2:g.3749498G>A, NT_167248.1:g.3673925G=, NT_167245.2:g.3685585G=, NT_167247.1:g.3791831G=, NM_019111.4:c.*406+228A>G, NM_019111.4:c.*406+228G>A, 114424451, NC_000006.11:g.32413051A=, XM_005274956.1:c.*634A>G, XM_005274956.1:c.*634G>A, NT_167248.2:g.3668329G=, NT_167246.2:g.3749498G=, 116937642, NT_187692.1:g.9459T>C, NG_002392.2:g.9574G>T, NC_000006.11:g.32413051A>G, NT_113891.3:g.3883363G=, NT_167249.1:g.3759721G=, NT_167245.2:g.3685585G>A, NT_167248.2:g.3668329G>A, XM_005249052.1:c.*634A>G, XM_005249052.1:c.*634G>A, NC_000006.11:g.32413051A>T, rs3135388, 3135388, NC_000006.12:g.32445274=, NM_019111.4:c.*634A>G, NM_019111.4:c.*634G>A, NT_167247.2:g.3786246G>A, NT_167248.1:g.3673925G>A, rs58941551, NC_000006.11:g.32413051A>C, NT_167249.2:g.3760423G>A, NC_000006.12:g.32445274A=, NT_167246.1:g.3755118G=, NT_113891.3:g.3883363G>A, rs116937642, NT_167246.1:g.3755118G>A, NC_000006.12:g.32445274A>G, rs114424451, NC_000006.12:g.32445274A>C, NG_002392.2:g.9574G>A, NG_002392.2:g.9574G>C, NC_000006.12:g.32445274A>T, NT_167247.2:g.3786246G= +PA166154395 rs3135506 PA24888 APOA5 NC_000011.10:116791691 4 1 0 0 0 NP_443200.2:p.Ser19Leu, NG_015894.1:g.5730C>T, 28939090, NM_001166598.1:c.56C>G, NP_001160070.1:p.Ser19Trp, NC_000011.9:g.116662407G>A, NC_000011.9:g.116662407=, NC_000011.10:g.116791691G>C, NC_000011.9:g.116662407G>C, rs3135506, 3135506, NM_052968.4:c.56C>G, NC_000011.10:g.116791691G>A, NG_051344.1:g.746=, NG_015894.2:g.5730C>G, NG_015894.1:g.5730=, NG_015894.2:g.5730C>T, NP_443200.2:p.Ser19Trp, NG_015894.1:g.5730C>G, NG_051344.1:g.746G>A, NG_051344.1:g.746G>C, NG_015894.2:g.5730=, rs28939090, NP_443200.2:p.Ser19=, NC_000011.10:g.116791691= +PA166155697 rs3136228 PA184 MSH6 NC_000002.12:47782677 1 0 0 0 0 NM_000179.2:c.-557T>G, XM_011532799.1:c.-1139T>G, XM_005264271.1:c.-1599T>G, NC_000002.12:g.47782677=, rs58009211, XM_011532800.1:c.-592T>G, NG_007111.1:g.4531=, NM_001281492.1:c.-557T>G, NC_000002.12:g.47782677T>G, NM_001281494.1:c.-2071T>G, 3136228, NC_000002.11:g.48009816=, rs3136228, NM_001281493.1:c.-1293T>G, NG_007111.1:g.4531T>G, XM_011532798.1:c.-1253T>G, NC_000002.11:g.48009816T>G, 58009211 +PA166154396 rs3136516 PA157 F2 NC_000011.10:46739206 1 0 0 0 0 NG_008953.1:g.25014G>A, 17847084, NC_000011.10:g.46739206G>A, NM_001311257.1:c.1678-59G>A, 587776431, NC_000011.9:g.46760756=, rs17847084, NC_000011.9:g.46760756G>A, XR_428840.2:n.1588-59G>A, NM_000506.4:c.1726-59G>A, NG_008953.1:g.25014=, 3136516, rs3136516, rs587776431, NC_000011.10:g.46739206= +PA166203412 rs3136646 PA166123676,PA31602 CCER2,NFKBIB NC_000019.10:38908637 1 0 0 0 0 NC_000019.10:g.38908637=, NC_000019.10:g.38908637C>T, 3136646, rs3136646, NC_000019.9:g.39399277=, NG_029624.1:g.13938C>T, 58369356, NG_029624.1:g.13938=, NC_000019.9:g.39399277C>T +PA166283743 rs315498 NC_000017.11:31693749 1 1 0 0 0 NC_000017.11:g.31693749C>G, 1599897, NC_000017.11:g.31693749C>T, NC_000017.10:g.30020768C>T, NC_000017.11:g.31693749=, 12945841, rs315498, 315498, NC_000017.10:g.30020768=, NC_000017.10:g.30020768C>G +PA166160837 rs316003 PA331 SLC22A2 NC_000006.12:160224800 2 0 0 0 0 NP_003049.2:p.Val502=, NC_000006.12:g.160224800=, NC_000006.11:g.160645832=, NC_000006.11:g.160645832C>T, NC_000006.12:g.160224800C>A, rs316003, 316003, 61185922, NC_000006.11:g.160645832C>A, 1755879, 612858, NC_000006.12:g.160224800C>T +PA166160917 rs316009 PA331 SLC22A2 NC_000006.12:160254732 1 0 0 0 0 NC_000006.11:g.160675764T>A, 3798157, NC_000006.11:g.160675764=, rs316009, 501611, NC_000006.12:g.160254732=, NC_000006.12:g.160254732T>C, NC_000006.12:g.160254732T>A, 316009, NC_000006.12:g.160254732T>G, 60301533, NC_000006.11:g.160675764T>G, NC_000006.11:g.160675764T>C +PA166156913 rs316019 PA331 SLC22A2 NC_000006.12:160249250 25 6 0 0 0 rs52803175, NC_000006.11:g.160670282A>C, rs316019, 60007366, rs1755917, rs17846267, rs17859289, 666224, 17846267, NC_000006.12:g.160249250A>C, 386580336, 52803175, NC_000006.12:g.160249250=, NC_000006.11:g.160670282=, 316019, NM_003058.3:c.808T>G, rs60007366, rs666224, 1755917, 17859289, NP_003049.2:p.Ser270=, NP_003049.2:p.Ser270Ala, rs386580336 +PA166159113 rs3172494 PA164720999 IP6K2 NC_000003.12:48694054 1 0 0 0 0 NC_000003.12:g.48694054=, NC_000003.12:g.48694054G>T, NC_000003.11:g.48731487=, NC_000003.11:g.48731487G>T, 61091798, 52811517, rs3172494, 3172494 +PA166155933 rs3176123 PA36496 THBD NC_000020.11:23046776 1 0 0 0 0 rs52803184, rs57024847, rs56561764, rs3176123, NG_012027.1:g.7889A>C, NC_000020.11:g.23046776T>G, 56561764, NG_012027.1:g.7889=, 3176123, 52803184, NC_000020.11:g.23046776=, NC_000020.10:g.23027413=, NC_000020.10:g.23027413T>G, NM_000361.2:c.*1001A>C, 57024847 +PA166170429 rs3181842 PA123 CYP2B6 NC_000019.10:41017111 1 0 0 0 0 59711416, rs3181842, 3181842, 10426639, NC_000019.9:g.41523016C>T, NG_007929.1:g.30813=, NG_007929.1:g.30813C>T, NC_000019.10:g.41017111=, 17410446, NC_000019.10:g.41017111C>T, NC_000019.9:g.41523016= +PA166154560 rs3184504 PA145148124 SH2B3 NC_000012.12:111446804 4 1 0 0 0 XP_011536022.1:p.Trp302Arg, XM_005253818.3:c.904T>C, NP_005466.1:p.Trp262Gly, NM_001291424.1:c.178T>C, NP_001278353.1:p.Trp60Arg, XM_011537721.1:c.178T>C, XM_005253819.1:c.784T>C, 52803061, XM_011537720.1:c.904T>C, NG_021216.1:g.45857T>A, XM_005253819.3:c.784T>C, NG_021216.1:g.45857T>C, XP_011536024.1:p.Gly338=, XM_006719180.2:c.-18T>C, NC_000012.11:g.111884608T>G, XM_011537722.1:c.1014T>C, NG_021216.1:g.45857T>G, NC_000012.12:g.111446804T>A, NC_000012.12:g.111446804T>C, XP_011536021.1:p.Trp302Arg, NG_021216.1:g.45857=, NP_005466.1:p.Trp262Arg, XP_005253875.1:p.Trp302Arg, XP_011536023.1:p.Trp60Arg, NC_000012.12:g.111446804T>G, NC_000012.11:g.111884608T>C, XM_005253818.1:c.904T>C, NC_000012.12:g.111446804=, XP_005253877.1:p.Trp60Arg, NC_000012.11:g.111884608T>A, XP_005253876.1:p.Trp262Arg, 17519753, rs60790578, NM_005475.2:c.784T>C, NP_005466.1:p.Trp262=, rs3184504, 3184504, XM_005253820.1:c.178T>C, NC_000012.11:g.111884608=, 60790578, rs52803061, XM_011537719.1:c.904T>C, rs17519753 +PA166182126 rs3192723 PA134870441 MTRF1L NC_000006.12:152994560 1 1 0 0 0 52828127, NC_000006.11:g.153315695C>T, rs3192723, 3192723, NC_000006.11:g.153315695=, 3799134, NP_061914.3:p.Val214Ile, 6942312, NC_000006.12:g.152994560=, NC_000006.12:g.152994560C>T, 117754359, NP_061914.3:p.Val214= +PA166160678 rs319952 PA142672636 AGBL4 NC_000001.11:48647950 1 1 0 0 0 386580719, NC_000001.10:g.49113622=, 57986944, NC_000001.11:g.48647950A>G, NC_000001.10:g.49113622A>T, 17373863, NC_000001.10:g.49113622A>G, rs319952, 399903, NC_000001.11:g.48647950=, 319952, NC_000001.11:g.48647950A>T +PA166157538 rs320 PA232 LPL NC_000008.11:19961566 1 1 0 0 0 NG_008855.1:g.27496T>G, NG_008855.2:g.64850=, NC_000008.11:g.19961566=, rs320, NG_008855.1:g.27496=, NG_008855.1:g.27496T>A, 320, NC_000008.10:g.19819077T>A, NG_008855.2:g.64850T>A, NG_008855.2:g.64850T>G, NC_000008.10:g.19819077T>G, NC_000008.11:g.19961566T>G, NC_000008.10:g.19819077=, NM_000237.2:c.1322+483T>G, NC_000008.11:g.19961566T>A +PA166160689 rs320003 PA142672636 AGBL4 NC_000001.11:48661106 1 1 0 0 0 NC_000001.10:g.49126778=, rs320003, 634023, NC_000001.10:g.49126778G>A, NC_000001.11:g.48661106=, NC_000001.11:g.48661106G>A, 320003 +PA166177346 rs3203358 PA142672368,PA28587 C8orf49,GATA4 NC_000008.11:11759996 1 0 0 0 0 NC_000008.11:g.11759996=, NC_000008.10:g.11617505C>G, NG_008177.2:g.88078=, 3203358, NG_008177.2:g.88078C>G, NC_000008.10:g.11617505=, NC_000008.11:g.11759996C>G, 3735811, rs3203358 +PA166157073 rs3204953 PA34337 REV3L NC_000006.12:111307423 1 0 0 0 0 NM_002912.4:c.9190G>A, XM_011536032.1:c.9037G>A, NC_000006.12:g.111307423=, XM_011536029.1:c.9268G>A, 17511539, NG_053000.1:g.181293G>A, XP_011534333.1:p.Val3013Ile, 52817805, NP_002903.3:p.Val3064=, XM_011536031.1:c.9037G>A, NC_000006.11:g.111628626=, NG_053000.1:g.181293=, XP_011534331.1:p.Val3090Ile, NC_000006.12:g.111307423C>T, XP_011534334.1:p.Val3013Ile, rs52817805, XP_006715606.1:p.Val3064Ile, XP_011534332.1:p.Val3065Ile, 386580771, XR_942871.1:n.2045+29265C>T, XM_011536028.1:c.9271G>A, XM_005267089.1:c.8824G>A, XP_011534330.1:p.Val3091Ile, NM_001286431.1:c.8956G>A, NM_001286432.1:c.8956G>A, NP_002903.3:p.Val3064Ile, XM_005267088.1:c.8956G>A, NC_000006.11:g.111628626C>T, NP_001273360.1:p.Val2986Ile, XM_006715543.2:c.9190G>A, XM_006715544.2:c.8956G>A, rs17511539, rs386580771, XP_005267146.1:p.Val2942Ile, XP_006715607.1:p.Val2986Ile, NP_001273361.1:p.Val2986Ile, 3204953, XP_005267145.1:p.Val2986Ile, XM_011536030.1:c.9193G>A, rs3204953 +PA166313064 rs3208361 PA130 CYP3A4 NC_000007.14:99768447 1 0 0 0 0 NG_008421.1:g.20739=, NC_000007.14:g.99768447T>C, NG_008421.1:g.20739A>G, rs3208361, 3208361, NC_000007.13:g.99366070T>C, NC_000007.14:g.99768447=, NP_059488.2:p.Ile193=, NC_000007.13:g.99366070=, NP_059488.2:p.Ile193Val +PA166169484 rs3210714 PA36055 SPARC NC_000005.10:151662371 1 0 0 0 0 NC_000005.9:g.151041932=, rs3210714, 52824900, 3210714, NC_000005.9:g.151041932C>T, NC_000005.10:g.151662371C>T, NG_042174.1:g.29684G>A, 17661863, NG_042174.1:g.29684=, 60492076, NC_000005.10:g.151662371= +PA166176934 rs3210967 PA38335 ZDHHC7 NC_000016.10:84975857 1 1 0 0 0 118184593, NC_000016.9:g.85009463T>G, rs3210967, 3210967, NC_000016.10:g.84975857T>G, NC_000016.9:g.85009463=, NC_000016.10:g.84975857T>C, NC_000016.10:g.84975857=, NC_000016.9:g.85009463T>C, 16975068 +PA166155405 rs3211371 PA123 CYP2B6 NC_000019.10:41016810 43 8 4 0 0 XP_005258628.1:p.Arg287Cys, 12721654, 58951873, rs28399500, NG_007929.1:g.30512=, XM_011526550.1:c.859C>T, NG_007929.1:g.30512C>A, 28399500, NC_000019.9:g.41522715C>A, NP_000758.1:p.Arg487Ser, rs3211371, 3211371, NP_000758.1:p.Arg487=, NM_000767.4:c.1459C>T, NC_000019.10:g.41016810C>A, NC_000019.9:g.41522715=, 33995163, XP_011524850.1:p.Arg327Cys, XM_005258570.1:c.*214C>T, XM_005258569.3:c.*48C>T, XP_011524851.1:p.Arg290Cys, XM_006723050.2:c.*143C>T, rs58951873, XP_011524852.1:p.Arg287Cys, NC_000019.10:g.41016810=, XM_005258571.1:c.859C>T, NP_000758.1:p.Arg487Cys, NC_000019.10:g.41016810C>T, XM_011526547.1:c.*214C>T, XM_011526549.1:c.868C>T, rs12721654, rs33995163, NC_000019.9:g.41522715C>T, XM_011526548.1:c.979C>T, NG_007929.1:g.30512C>T, XM_005258569.1:c.*48C>T +PA166160504 rs3212183 PA29349 HNF4A NC_000020.11:44406498 3 0 0 0 0 NG_009818.1:g.55698=, rs3212183, NC_000020.11:g.44406498C>A, NC_000020.10:g.43035138C>A, NC_000020.11:g.44406498=, NC_000020.10:g.43035138=, NG_009818.1:g.55698C>T, 3212183, NC_000020.11:g.44406498C>T, NG_009818.1:g.55698C>A, NC_000020.10:g.43035138C>T, 56586597 +PA166163844 rs3212185 PA29349 HNF4A NC_000020.11:44409344 1 0 0 0 0 NC_000020.11:g.44409344T>C, NG_009818.1:g.58544T>C, NC_000020.10:g.43037984T>C, 3212185, rs3212185, NC_000020.11:g.44409344=, NG_009818.1:g.58544=, NC_000020.10:g.43037984= +PA166190543 rs3212191 PA29349 HNF4A NC_000020.11:44410142 1 0 0 0 0 rs3212191, 3212191, NG_009818.1:g.59342=, NC_000020.11:g.44410142T>C, 3787356, NC_000020.10:g.43038782T>C, NG_009818.1:g.59342T>C, 74274364, NC_000020.11:g.44410142=, NC_000020.10:g.43038782=, 58615747 +PA166178998 rs3212197 PA29349 HNF4A NC_000020.11:44415567 1 0 0 0 0 NG_009818.1:g.64767=, 386480213, NG_009818.1:g.64767T>A, NC_000020.11:g.44415567=, NC_000020.11:g.44415567T>A, NC_000020.10:g.43044207=, 60991211, rs3212197, 3212197, NC_000020.10:g.43044207T>G, NC_000020.11:g.44415567T>C, NC_000020.10:g.43044207T>C, NG_009818.1:g.64767T>C, NC_000020.11:g.44415567T>G, NC_000020.10:g.43044207T>A, NG_009818.1:g.64767T>G +PA166155934 rs3212198 PA29349 HNF4A NC_000020.11:44415722 1 1 0 0 0 NM_001287183.1:c.573+1060C>T, XM_011528798.1:c.696+1060C>T, rs57374331, XM_011528797.1:c.696+1060C>T, NC_000020.11:g.44415722C>G, NC_000020.11:g.44415722C>T, NM_001030003.2:c.582+1060C>T, 57374331, NM_001258355.1:c.627+1060C>T, NM_175914.4:c.582+1060C>T, XM_005260407.1:c.765+1060C>T, NC_000020.11:g.44415722=, NC_000020.10:g.43044362C>G, NM_178850.2:c.648+1060C>T, NG_009818.1:g.64922=, NM_001287182.1:c.573+1060C>T, NG_009818.1:g.64922C>T, 3212198, NM_001287184.1:c.573+1060C>T, NM_178849.2:c.648+1060C>T, NM_000457.4:c.648+1060C>T, NC_000020.10:g.43044362C>T, rs3212198, 3787357, rs3787357, NM_001030004.2:c.582+1060C>T, NC_000020.10:g.43044362=, XM_005260407.2:c.765+1060C>T, NG_009818.1:g.64922C>G +PA166180518 rs3212207 PA29349 HNF4A NC_000020.11:44423974 1 0 0 0 0 rs3212207, 3212207, NC_000020.10:g.43052614G>C, NC_000020.10:g.43052614=, NG_009818.1:g.73174=, NG_009818.1:g.73174G>C, NC_000020.11:g.44423974=, NC_000020.11:g.44423974G>C +PA166163375 rs3212217 PA29785 IL12B NC_000005.10:159328122 2 0 0 0 0 NC_000005.9:g.158755130=, 3212217, NG_009618.1:g.7352=, 57847530, 386580884, NC_000005.10:g.159328122C>G, NC_000005.9:g.158755130C>G, rs3212217, 17875298, NC_000005.10:g.159328122=, 61101195, NG_009618.1:g.7352G>C +PA166163735 rs3212227 PA29785 IL12B NC_000005.10:159315942 1 0 0 0 0 NC_000005.10:g.159315942T>G, NC_000005.9:g.158742950T>G, 57107704, NG_009618.1:g.19532=, NG_009618.1:g.19532A>C, NC_000005.10:g.159315942=, 386580886, rs3212227, 17875322, 3212227, NC_000005.9:g.158742950= +PA166160522 rs3212935 PA155 ERCC1 NC_000019.10:45423517 2 0 0 0 0 rs3212935, NC_000019.10:g.45423517=, 3212935, NC_000019.10:g.45423517T>C, 386580931, NG_015839.2:g.60312A>G, NG_015839.2:g.60312=, NC_000019.9:g.45926775=, NC_000019.9:g.45926775T>C +PA166155406 rs3212948 PA155 ERCC1 NC_000019.10:45421104 1 0 0 0 0 NG_015839.2:g.62725C>A, 57311942, XM_005258638.1:c.106-677C>G, rs3212948, rs3737560, 3212948, 3737560, NG_015839.2:g.62725C>G, NC_000019.9:g.45924362G>A, XM_005258636.1:c.321+74C>G, NC_000019.9:g.45924362G>C, XM_011526610.1:c.321+74C>G, XM_005258634.1:c.321+74C>G, XM_005258636.3:c.321+74C>G, NM_001983.3:c.321+74C>G, NC_000019.9:g.45924362G>T, NC_000019.10:g.45421104=, NM_202001.2:c.321+74C>G, XM_005258637.1:c.321+74C>G, NC_000019.9:g.45924362=, NC_000019.10:g.45421104G>T, XM_005258635.1:c.321+74C>G, NG_015839.2:g.62725=, NM_001166049.1:c.321+74C>G, NC_000019.10:g.45421104G>C, XM_005258635.2:c.321+74C>G, NC_000019.10:g.45421104G>A, NG_015839.2:g.62725C>T, rs57311942 +PA166253341 rs3212961 PA155 ERCC1 NC_000019.10:45419065 1 0 0 0 0 NC_000019.9:g.45922323G>T, NG_015839.2:g.64764=, NG_015839.2:g.64764C>A, NG_015839.2:g.64764C>T, NC_000019.9:g.45922323G>A, rs3212961, NC_000019.10:g.45419065G>A, 3212961, NC_000019.10:g.45419065=, NC_000019.9:g.45922323=, NC_000019.10:g.45419065G>T +PA166253321 rs3212964 PA155 ERCC1 NC_000019.10:45417538 1 0 0 0 0 NG_015839.2:g.66291=, NC_000019.9:g.45920796=, NC_000019.9:g.45920796C>G, NC_000019.10:g.45417538=, NG_015839.2:g.66291G>C, NC_000019.10:g.45417538C>G, NG_015839.2:g.66291G>A, rs3212964, 3212964, 58416884, NC_000019.10:g.45417538C>T, NC_000019.9:g.45920796C>T +PA166253286 rs3212980 PA155 ERCC1 NC_000019.10:45413183 1 1 0 0 0 NC_000019.9:g.45916441T>G, NC_000019.9:g.45916441=, NG_015839.2:g.70646A>C, 74253353, NC_000019.10:g.45413183T>G, NC_000019.10:g.45413183=, NG_015839.2:g.70646=, rs3212980, 3212980, 60381554 +PA166155407 rs3212986 PA155,PA142672156,PA34195 ERCC1,POLR1G,PPP1R13L NC_000019.10:45409478 34 11 0 0 0 NG_015839.2:g.74351G>T, NP_001284519.1:p.Gln506Lys, NC_000019.10:g.45409478C>G, NP_001284519.1:p.Gln506=, NC_000019.10:g.45409478=, NM_001166049.1:c.*197G>T, NC_000019.10:g.45409478C>A, NC_000019.9:g.45912736C>T, rs3212986, 3212986, XM_005258425.1:c.1516C>A, XM_005258638.1:c.*197G>T, NC_000019.10:g.45409478C>T, NC_000019.9:g.45912736C>G, NG_015839.2:g.74351G>A, NM_012099.1:c.1510C>A, NP_001284519.1:p.Gln506Ter, NC_000019.9:g.45912736C>A, NG_015839.2:g.74351G>C, NP_036231.1:p.Gln504Lys, rs60333438, NP_001284519.1:p.Gln506Glu, 386580934, NG_015839.2:g.74351=, NM_001297590.1:c.1516C>A, 60333438, NC_000019.9:g.45912736=, XP_005258482.1:p.Gln506Lys, rs386580934, NM_001983.3:c.*197G>T +PA166160547 rs3213094 PA29785 IL12B NC_000005.10:159323761 3 1 0 0 0 NG_009618.1:g.11713G>A, NG_009618.1:g.11713G>C, NC_000005.10:g.159323761C>T, NC_000005.9:g.158750769C>T, 60726014, NC_000005.9:g.158750769=, 3213094, rs3213094, 17875309, NC_000005.10:g.159323761=, NC_000005.9:g.158750769C>G, NG_009618.1:g.11713=, NC_000005.10:g.159323761C>G +PA166157074 rs3213207 PA27512 DTNBP1 NC_000006.12:15627871 4 1 0 0 0 NM_032122.4:c.223-396A>G, XM_005249447.3:c.184-396A>G, 3213207, NG_009309.1:g.40170=, XM_005249447.1:c.184-396A>G, NC_000006.11:g.15628102T>C, NM_001271668.1:c.172-396A>G, XM_011514936.1:c.133-396A>G, NC_000006.11:g.15628102=, rs3213207, 17472692, NC_000006.12:g.15627871=, NG_009309.1:g.40170A>G, NM_183040.2:c.223-396A>G, NM_001271669.1:c.118-396A>G, NM_001271667.1:c.-21-396A>G, NC_000006.12:g.15627871T>C, NR_036448.1:n.551-396A>G, rs17472692 +PA166155408 rs3213239 PA164715842,PA166049118,PA369 APLF,PINLYP,XRCC1 NC_000019.10:43576913 1 1 0 0 0 NC_000019.10:g.43576908_43576912=, NC_000019.9:g.44081060_44081064=, NM_006297.2:c.-1450_-1449insGGCC, 146254820, NM_001193621.1:c.-18_-17insGGCC, rs146254820, NG_033799.1:g.3671_3672insGGCC, NC_000019.9:g.44081061_44081064dup, rs3213239, 3213239, NC_000019.10:g.43576907_43576908insGGCC, NG_033799.1:g.3668_3671dup, NC_000019.10:g.43576909_43576912dup, NC_000019.9:g.44081059_44081060insGGCC, NG_033799.1:g.3667_3671=, XM_011526970.1:c.-213_-212insGGCC +PA166155048 rs3213422 PA25121,PA27327,PA134907578 ATP5A1P3,DHODH,PKD1L3 NC_000016.10:72008783 3 1 0 0 0 rs52805696, NC_000016.10:g.72008783A>T, 17665243, 61491058, NC_000016.9:g.72042682=, NP_001352.2:p.Lys7=, XM_005255827.1:c.-428A>C, NC_000016.10:g.72008783=, NC_000016.9:g.72042682A>T, NC_000016.10:g.72008783A>G, 386580989, NC_000016.10:g.72008783A>C, NC_000016.9:g.72042682A>G, rs386580989, NP_001352.2:p.Lys7Ter, NC_000016.9:g.72042682A>C, NG_016271.1:g.5040=, NP_001352.2:p.Lys7Gln, NG_016271.1:g.5040A>C, XM_005255827.2:c.-428A>C, NP_001352.2:p.Lys7Glu, rs3213422, 3213422, NM_001361.4:c.19A>C, 52805696, NG_016271.1:g.5040A>T, NG_016271.1:g.5040A>G, rs17665243, rs61491058 +PA166157373 rs3213619 PA267 ABCB1 NC_000007.14:87600877 14 1 0 0 0 rs3213619, 3213619, NC_000007.14:g.87600877=, NG_011513.1:g.117372=, NG_011513.1:g.117372T>C, rs17249446, 60679736, NC_000007.13:g.87230193A>G, NM_000927.4:c.-129T>C, rs60679736, NC_000007.13:g.87230193=, NC_000007.14:g.87600877A>G, 17249446 +PA166154800 rs3213729 PA165478762 DCAF4 NC_000014.9:72926538 1 0 0 0 0 NM_015604.3:c.-14G>C, XM_005267526.3:c.-434G>C, XM_006720114.2:c.-14G>C, NG_047140.1:g.5207=, XM_005267523.1:c.-400G>C, rs60333922, XM_005267523.3:c.-400G>C, XM_005267522.1:c.-14G>C, XM_005267527.1:c.-214G>C, XM_006720113.2:c.-564G>C, 60333922, XM_005267526.1:c.-434G>C, XM_005267522.3:c.-14G>C, XM_006720115.2:c.-598G>C, NM_181340.2:c.-214G>C, NC_000014.8:g.73393246=, NG_047140.1:g.5207G>C, NG_047140.1:g.5207G>A, rs3213729, 3213729, NM_001163508.1:c.-14G>C, NM_001163509.1:c.-48G>C, XM_005267525.1:c.-48G>C, NC_000014.9:g.72926538=, NM_181341.2:c.-14G>C, NC_000014.8:g.73393246G>A, NC_000014.8:g.73393246G>C, NC_000014.9:g.72926538G>A, NC_000014.9:g.72926538G>C, XM_005267525.3:c.-48G>C +PA166153737 rs3215133 PA24994 ARNT NC_000001.11:150829797 1 0 0 0 0 NM_001286035.1:c.990+107del, XM_005245158.1:c.1032+107delA, NM_001668.3:c.1032+107del, NC_000001.10:g.150802273delT, NM_178427.2:c.987+107delA, NM_001286036.1:c.1032+107del, XM_011509542.1:c.1029+107del, XM_005245153.1:c.1017+107del, NM_001197325.1:c.987+107del, NM_001668.3:c.1032+107delA, NG_028248.1:g.51972=, NM_178427.2:c.987+107del, XM_011509547.1:c.984+107del, rs3215133, NC_000001.10:g.150802273=, XM_011509543.1:c.1029+107del, XM_011509546.1:c.936+107del, NG_028248.1:g.51972delA, 3215133, rs148442690, XM_005245157.1:c.1032+107del, 369991348, NC_000001.11:g.150829797=, XM_005245151.1:c.1032+107del, rs369991348, NC_000001.11:g.150829797delT, NM_001197325.1:c.987+107delA, XM_005245159.1:c.984+107delA, XM_005245151.1:c.1032+107delA, NG_028248.1:g.51972del, XM_005245156.1:c.984+107delA, NM_001286036.1:c.1032+107delA, XM_005245155.1:c.990+107delA, NC_000001.10:g.150802273del, XM_005245154.2:c.1005+107del, 148442690, XM_005245160.1:c.720+107delA, XM_005245152.1:c.1032+107delA, NM_001286035.1:c.990+107delA, NC_000001.11:g.150829797del, XM_011509545.1:c.984+107del, XM_005245157.1:c.1032+107delA, XM_005245153.1:c.1017+107delA, XM_011509544.1:c.1026+107del, XM_005245154.1:c.1005+107delA +PA166153738 rs3215400 PA98 CDA NC_000001.11:20589099 10 2 0 0 0 rs35386716, rs373391994, rs57426563, NC_000001.10:g.20915590delC, 139923988, NC_000001.10:g.20915590_20915592=, rs373015145, NM_001785.2:c.-33delC, 3215400, rs3215400, NC_000001.11:g.20589097_20589099=, NC_000001.10:g.20915592del, NC_000001.11:g.20589097delC, 35386716, 57426563, rs71752362, 373015145, 373391994, NC_000001.11:g.20589099del, 71752362, rs139923988 +PA166163239 rs3217164 PA107 CES1 NC_000016.10:55821239 1 1 0 0 0 141500723, NC_000016.10:g.55821239=, NG_012057.1:g.16925del, rs3217164, 3217164, NC_000016.9:g.55855151=, NC_000016.10:g.55821239del, NC_000016.9:g.55855151del, NG_012057.1:g.16925=, 372663473, 138068020 +PA166156102 rs3218253 PA29829 IL2RB NC_000022.11:37148770 1 0 0 0 0 NM_000878.3:c.-34+1055C>T, NC_000022.10:g.37544810=, rs3218253, XM_005261599.1:c.-33-4565C>T, 3218253, 58893919, NC_000022.10:g.37544810G>A, rs58893919, 57212492, NC_000022.11:g.37148770=, rs57212492, NC_000022.11:g.37148770G>A +PA166157075 rs3218592 PA34337 REV3L NC_000006.12:111322635 1 1 0 0 0 NG_053000.1:g.166081G>A, XM_006715544.2:c.8051G>A, NC_000006.11:g.111643838=, NP_001273360.1:p.Arg2684Gln, XP_011534330.1:p.Arg2789Gln, NC_000006.12:g.111322635C>T, 17511399, NP_001273361.1:p.Arg2684Gln, XM_011536028.1:c.8366G>A, 52802396, XP_011534333.1:p.Arg2711Gln, XM_005267088.1:c.8051G>A, XM_011536032.1:c.8132G>A, NC_000006.11:g.111643838C>T, XM_011536031.1:c.8132G>A, XM_006715543.2:c.8285G>A, XP_005267145.1:p.Arg2684Gln, XM_011536030.1:c.8288G>A, rs52802396, XP_006715606.1:p.Arg2762Gln, 386581148, XP_011534334.1:p.Arg2711Gln, XM_005267089.1:c.7919G>A, NP_002903.3:p.Arg2762=, XP_005267146.1:p.Arg2640Gln, XP_006715607.1:p.Arg2684Gln, rs386581148, 3218592, NM_001286431.1:c.8051G>A, XM_011536029.1:c.8363G>A, XP_011534331.1:p.Arg2788Gln, XR_942871.1:n.2046-15110C>T, rs17511399, rs3218592, XP_011534332.1:p.Arg2763Gln, NM_002912.4:c.8285G>A, NP_002903.3:p.Arg2762Gln, NC_000006.12:g.111322635=, NM_001286432.1:c.8051G>A, NG_053000.1:g.166081= +PA166153740 rs3218622 PA293 PTGS2 NC_000001.11:186676873 1 0 0 0 0 rs52794860, NM_000963.3:c.683G>A, NG_028206.2:g.8555=, NP_000954.1:p.Arg228His, NC_000001.10:g.186646005C>T, NC_000001.11:g.186676873C>T, 3218622, NC_000001.10:g.186646005=, 52794860, rs3218622, NC_000001.11:g.186676873=, NG_028206.2:g.8555G>A, NP_000954.1:p.Arg228= +PA166153741 rs3218625 PA293 PTGS2 NC_000001.11:186674409 1 0 0 0 0 386581154, NC_000001.11:g.186674409=, NG_028206.2:g.11019G>A, NP_000954.1:p.Gly587Arg, NC_000001.10:g.186643541=, NM_000963.3:c.1759G>A, NG_028206.2:g.11019=, rs3218625, 3218625, NP_000954.1:p.Gly587=, rs386581154, NC_000001.11:g.186674409C>T, NC_000001.10:g.186643541C>T +PA166156813 rs3219151 PA28494 GABRA6 NC_000005.10:161701908 1 0 0 0 0 NC_000005.10:g.161701908C>T, 57122315, NC_000005.10:g.161701908=, rs57122315, rs17059674, rs3219151, NC_000005.9:g.161128914C>T, 3219151, 17059674, NC_000005.9:g.161128914=, NM_000811.2:c.*135C>T +PA166156573 rs3219191 PA390 ABCG2 NC_000004.12:88159565_88159571 1 0 0 0 0 NC_000004.12:g.88159568_88159571dup, XM_005263354.2:c.-1009_-1008insCTCA, NC_000004.11:g.89080720_89080723dup, XM_011532420.1:c.-19-19552_-19-19551insCTCA, NC_000004.11:g.89080720_89080723AGTG[3], NG_032067.2:g.76755_76758dup, NC_000004.11:g.89080717_89080718insTGAG, 397734325, NG_032067.2:g.76752_76758=, XM_005263354.1:c.-1009_-1008insCTCA, rs3219191, XM_005263356.2:c.-1200_-1199insCTCA, NC_000004.12:g.88159568_88159571AGTG[3], NM_004827.2:c.-1200_-1199insCTCA, 3219191, NC_000004.12:g.88159565_88159571=, NG_032067.2:g.76755_76758TCAC[3], 150706714, NC_000004.11:g.89080717_89080723=, XM_005263355.2:c.-19-19552_-19-19551insCTCA, NC_000004.12:g.88159565_88159566insTGAG, NG_032067.2:g.76757_76758insCTCA, XM_005263356.1:c.-1200_-1199insCTCA, XM_005263355.1:c.-19-19552_-19-19551insCTCA, NM_001257386.1:c.-19-19552_-19-19551insCTCA +PA166153742 rs3219484 PA31328 MUTYH NC_000001.11:45334484 1 1 0 0 0 XM_011541506.1:c.-52G>A, NG_008189.1:g.10987G>A, NM_001293191.1:c.22G>A, XM_005270881.1:c.22G>A, XP_011539806.1:p.Val8Met, NP_001280119.1:p.Val22Met, XP_011539803.1:p.Val8Met, rs52809192, XP_011539801.1:p.Val8Met, XP_011539800.1:p.Val8Met, XP_011539804.1:p.Val8Met, XM_011541503.1:c.64G>A, XP_011539802.1:p.Val8Met, NM_001048173.1:c.22G>A, rs61197742, NM_001128425.1:c.64G>A, NM_001293196.1:c.-191G>A, NC_000001.11:g.45334484C>T, NM_001048174.1:c.22G>A, XM_011541504.1:c.22G>A, NM_001293190.1:c.64G>A, XR_946658.1:n.111G>A, NM_001293192.1:c.-191G>A, NM_012222.2:c.64G>A, NC_000001.10:g.45800156C>T, NM_001048171.1:c.64G>A, NG_008189.1:g.10987=, NP_036354.1:p.Val22=, XM_005270886.1:c.-52G>A, XM_011541500.1:c.22G>A, rs3219484, NC_000001.11:g.45334484C>A, XM_005270880.1:c.64G>A, NP_036354.1:p.Val22Leu, NC_000001.10:g.45800156C>A, 17784895, XP_011539805.1:p.Val22Met, XM_011541497.1:c.40G>A, NP_001280120.1:p.Val8Met, XP_005270937.1:p.Val22Met, XM_011541508.1:c.-1194G>A, XM_011541505.1:c.-52G>A, NC_000001.11:g.45334484=, XP_005270938.1:p.Val8Met, NP_001041637.1:p.Val8Met, NP_001041638.1:p.Val8Met, XM_011541499.1:c.22G>A, XM_011541501.1:c.22G>A, XP_005270939.1:p.Val8Met, NP_001280124.1:p.Val8Met, NP_001041639.1:p.Val8Met, XM_005270883.1:c.-135G>A, rs17784895, 52809192, 61197742, NG_008189.1:g.10987G>T, NM_001293195.1:c.22G>A, XM_005270884.1:c.-191G>A, XM_011541498.1:c.22G>A, XM_005270882.1:c.22G>A, XM_005270885.1:c.-191G>A, NP_001041636.1:p.Val22Met, XM_011541507.1:c.-1167G>A, 3219484, NP_001121897.1:p.Val22Met, XP_011539799.1:p.Val14Met, NM_001048172.1:c.22G>A, NC_000001.10:g.45800156=, NP_036354.1:p.Val22Met, XM_011541502.1:c.22G>A +PA166171088 rs3219489 PA31328 MUTYH NC_000001.11:45331833 2 1 0 0 0 NG_008189.1:g.13638G>C, NC_000001.10:g.45797505=, rs3219489, NC_000001.11:g.45331833C>G, NC_000001.10:g.45797505C>A, 3219489, NG_008189.1:g.13638G>T, NP_036354.1:p.Gln335His, NC_000001.11:g.45331833C>A, NC_000001.10:g.45797505C>G, NG_008189.1:g.13638=, NC_000001.11:g.45331833=, 3811430, NP_036354.1:p.Gln335= +PA166153567 rs323719 PA31791 YBX1 NC_000001.11:42805257 1 0 0 0 0 NC_000001.11:g.42805257G>A, NC_000001.10:g.43270928G>A, NC_000001.10:g.43270928=, 323719, NC_000001.11:g.42805257=, rs323719 +PA166153568 rs323720 PA31791 YBX1 NC_000001.11:42805362 1 0 0 0 0 rs323720, 57992297, NC_000001.10:g.43271033T>C, rs57992297, NC_000001.10:g.43271033=, NC_000001.11:g.42805362T>C, 323720, NC_000001.11:g.42805362= +PA166224561 rs324011 PA339 STAT6 NC_000012.12:57108399 1 0 0 0 0 NC_000012.11:g.57502182=, NG_021272.2:g.28741G>T, NC_000012.11:g.57502182C>T, NC_000012.12:g.57108399=, rs324011, NG_021272.1:g.8015G>T, NC_000012.12:g.57108399C>T, NG_021272.2:g.28741=, NG_021272.2:g.28741G>A, 324011, NC_000012.11:g.57502182C>A, NG_021272.1:g.8015G>A, NC_000012.12:g.57108399C>A, NG_021272.1:g.8015= +PA166156285 rs324023 PA27479 DRD3 NC_000003.12:114166548 1 1 0 0 0 NM_000796.5:c.270+5175A>G, rs17305602, XM_011512511.1:c.270+5175A>G, NM_001290809.1:c.270+5175A>G, NG_008842.2:g.37860=, NC_000003.12:g.114166548T>C, NG_008842.2:g.37860A>G, NM_001282563.2:c.270+5175A>G, rs324023, XM_011512512.1:c.270+5175A>G, NC_000003.11:g.113885395=, 17305602, XM_005247171.1:c.270+5175A>G, XM_011512510.1:c.270+5175A>G, NC_000003.11:g.113885395T>C, NC_000003.12:g.114166548=, NM_033663.5:c.270+5175A>G, 324023, XM_005247170.1:c.270+5175A>G +PA166156286 rs324026 PA27479 DRD3 NC_000003.12:114172195 3 1 0 0 0 NM_001282563.2:c.-35-168G>A, NM_033663.5:c.-35-168G>A, NG_008842.2:g.32213=, rs60286476, XM_011512510.1:c.-35-168G>A, XM_011512512.1:c.-35-168G>A, XM_005247170.1:c.-35-168G>A, NC_000003.11:g.113891042=, rs324026, NC_000003.12:g.114172195=, XM_011512511.1:c.-35-168G>A, 60286476, NC_000003.12:g.114172195C>T, XM_005247171.1:c.-35-168G>A, NM_001290809.1:c.-35-168G>A, NM_000796.5:c.-35-168G>A, NC_000003.11:g.113891042C>T, NG_008842.2:g.32213G>A, 324026 +PA166235844 rs324029 PA27479 DRD3 NC_000003.12:114162776 2 1 0 0 0 rs324029, NG_008842.2:g.41632T>C, 324029, NG_008842.2:g.41632=, NG_008842.2:g.41632T>G, NC_000003.11:g.113881623A>G, NC_000003.12:g.114162776A>G, NC_000003.11:g.113881623A>C, NC_000003.12:g.114162776=, NC_000003.12:g.114162776A>C, 61530068, NC_000003.11:g.113881623= +PA166156914 rs324148 PA154 SLC29A1 NC_000006.12:44228841 1 0 0 0 0 XM_005248882.1:c.30-549T>C, 324148, NM_001304462.1:c.267-549T>C, rs632264, NM_001304463.1:c.156-549T>C, 58552437, rs58552437, XM_005248882.3:c.30-549T>C, XM_011514341.1:c.270-549T>C, NC_000006.12:g.44228841=, NC_000006.11:g.44196578=, XM_005248880.1:c.30-549T>C, rs3778506, 17459033, 3778506, XM_005248878.3:c.30-549T>C, NC_000006.11:g.44196578T>C, NM_001078174.1:c.30-549T>C, NM_001078176.2:c.30-549T>C, rs17459033, XM_005248878.1:c.30-549T>C, NM_001304466.1:c.105-549T>C, XM_005248875.1:c.267-549T>C, XM_005248877.1:c.156-549T>C, XM_005248881.1:c.30-549T>C, XM_005248881.3:c.30-549T>C, NC_000006.12:g.44228841T>C, NM_001304465.1:c.108-549T>C, rs56481573, NM_001078175.2:c.30-549T>C, 632264, 56481573, NG_042893.1:g.14337=, rs324148, NM_004955.2:c.30-549T>C, NG_042893.1:g.14337T>C, XM_005248879.3:c.30-549T>C, XM_005248876.1:c.159-549T>C, XM_005248880.3:c.30-549T>C, XM_005248876.3:c.159-549T>C, XM_005248879.1:c.30-549T>C, NM_001078177.1:c.30-549T>C +PA166153569 rs324420 PA27955 FAAH NC_000001.11:46405089 11 4 0 0 0 NC_000001.10:g.46870761C>A, XP_005270682.1:p.Pro129Thr, XR_246250.1:n.463C>A, NC_000001.10:g.46870761=, rs324420, NP_001432.2:p.Pro129Thr, XP_005270681.1:p.Pro129Thr, NC_000001.11:g.46405089=, 57947754, NP_001432.2:p.Pro129=, XM_005270624.1:c.385C>A, NC_000001.11:g.46405089C>A, NG_012195.1:g.15823=, XM_005270625.1:c.385C>A, NG_012195.1:g.15823C>A, 324420, NM_001441.2:c.385C>A, rs57947754 +PA166195023 rs324498 PA34013 PTPRD NC_000009.12:9059545 1 1 0 0 0 58788756, NC_000009.12:g.9059545G>C, NC_000009.12:g.9059545G>A, rs324498, NC_000009.11:g.9059545=, NC_000009.12:g.9059545=, NG_033963.1:g.1558179C>T, NC_000009.11:g.9059545G>A, NC_000009.11:g.9059545G>C, NG_033963.1:g.1558179=, 1274831, NG_033963.1:g.1558179C>G, 324498 +PA166157253 rs324650 PA111 CHRM2 NC_000007.14:137008914 1 1 0 0 0 10372018, 61507206, NC_000007.14:g.137008914T>A, rs61507206, NR_046103.1:n.341+23880A>T, NM_001006631.1:c.-46-5906T>A, NM_001006626.1:c.-46-5906T>A, rs58306512, NM_001006629.1:c.-46-5906T>A, XM_011515769.1:c.-46-5906T>A, NG_011846.2:g.145263T>A, XM_005250130.1:c.-46-5906T>A, 324650, NM_000739.2:c.-46-5906T>A, NM_001006632.1:c.-46-5906T>A, 58306512, NC_000007.14:g.137008914=, NM_001006628.1:c.-46-5906T>A, NC_000007.13:g.136693661T>A, NG_011846.2:g.145263=, rs17415256, rs9642063, XM_011515771.1:c.-46-5906T>A, rs324650, 9642063, XM_011515770.1:c.-46-5906T>A, NM_001006630.1:c.-46-5906T>A, NC_000007.13:g.136693661=, rs10372018, 17415256, rs1672065, 1672065, NM_001006627.1:c.-46-5906T>A +PA166171034 rs324899 NC_000005.10:88619764 1 1 0 0 0 NC_000005.10:g.88619764=, 324899, NC_000005.9:g.87915582A>G, 57964539, 17389677, 10462475, 7446439, NC_000005.10:g.88619764A>G, 17360669, 4645360, rs324899, 111351668, 1089740, NC_000005.9:g.87915582=, 34938173 +PA166157539 rs328 PA232 LPL NC_000008.11:19962213 2 1 0 0 0 NC_000008.11:g.19962213=, NG_008855.2:g.65497=, rs328, NM_000237.2:c.1421C>G, NG_008855.1:g.28143=, rs17482566, NG_008855.2:g.65497C>G, NC_000008.11:g.19962213C>A, rs52834251, NC_000008.10:g.19819724C>A, rs3735962, NP_000228.1:p.Ser474Ter, 3735962, NG_008855.2:g.65497C>A, NC_000008.10:g.19819724=, NG_008855.1:g.28143C>G, 17482566, NC_000008.11:g.19962213C>G, NC_000008.10:g.19819724C>G, 328, NP_000228.1:p.Ser474=, NG_008855.1:g.28143C>A, 52834251 +PA166155268 rs329007 PA34199 RALBP1 NC_000018.10:9522608 1 0 0 0 0 NC_000018.9:g.9522606G>A, NM_006788.3:c.1053+99G>A, NC_000018.9:g.9522606=, 59437962, NC_000018.10:g.9522608=, rs329007, rs59437962, XM_005258080.1:c.1053+99G>A, NC_000018.10:g.9522608G>A, NC_000018.9:g.9522606G>C, 329007, NC_000018.10:g.9522608G>C +PA166156273 rs333 PA26170 CCR5 NC_000003.12:46373456_46373487 1 0 0 0 0 rs62627090, NG_012637.1:g.8312_8346=, XP_005264911.1:p.Ser185Ilefs, NG_012637.1:g.8315_8346del32, NP_001093638.1:p.Ser185Ilefs, rs333, NC_000003.12:g.46373456_46373487del, rs4646963, 333, NC_000003.12:g.46373456_46373487del32, NP_000570.1:p.Ser185fs, NM_000579.3:c.554_585del32, NG_012637.1:g.8315_8346del, XP_005264912.1:p.Tyr184_Ile185(?), 62627090, XM_005264854.1:c.554_585del32, 562091107, NC_000003.11:g.46414944_46414978=, rs56030631, NR_125406.1:n.392-2070_392-2039del32, NC_000003.12:g.46373453_46373487=, NM_001100168.1:c.554_585del32, 4646963, NP_000570.1:p.Ser185Ilefs, NP_000570.1:p.Tyr184_Thr195=, 56030631, NC_000003.11:g.46414947_46414978del, NC_000003.11:g.46414947_46414978del32, XM_005264855.1:c.550+4_553del32 +PA166161433 rs33388 PA181 NR3C1 NC_000005.10:143317730 1 0 0 0 0 NC_000005.10:g.143317730=, 56424737, NC_000005.9:g.142697295A>T, NG_009062.1:g.122783=, NC_000005.10:g.143317730A>C, NC_000005.10:g.143317730A>G, 33388, NC_000005.9:g.142697295A>G, rs33388, NC_000005.9:g.142697295A>C, NG_009062.1:g.122783T>G, NC_000005.9:g.142697295=, NG_009062.1:g.122783T>A, 17339331, NC_000005.10:g.143317730A>T, NG_009062.1:g.122783T>C +PA166161410 rs33389 PA181 NR3C1 NC_000005.10:143320934 2 0 0 0 0 NC_000005.10:g.143320934=, NG_010188.1:g.1440=, NC_000005.9:g.142700499C>T, NC_000005.10:g.143320934C>G, NG_009062.1:g.119579G>A, NG_010188.1:g.1440C>G, NC_000005.9:g.142700499=, NG_009062.1:g.119579G>C, NC_000005.9:g.142700499C>G, NC_000005.10:g.143320934C>T, 33389, NG_009062.1:g.119579=, NG_010188.1:g.1440C>T, rs33389 +PA166156287 rs334558 PA29009 GSK3B NC_000003.12:120094435 5 2 0 0 0 rs1259135, rs334558, 1259135, NG_012922.1:g.4983T>A, NC_000003.12:g.120094435A>G, NC_000003.11:g.119813282=, NG_012922.1:g.4983T>C, 787424, NG_012922.1:g.4983=, NC_000003.11:g.119813282A>G, 334558, XM_006713611.1:c.-1001T>C, XM_006713610.1:c.-1001T>C, NC_000003.12:g.120094435=, NC_000003.11:g.119813282A>T, NC_000003.12:g.120094435A>T, NM_002093.3:c.-1001T>C, rs787424, NM_001146156.1:c.-1001T>C +PA166157254 rs339097 PA26047 CALU NC_000007.14:128759170 6 1 0 0 0 NM_001199671.1:c.606+133A>G, XM_011516588.1:c.360+133A>G, 386582001, rs1668425, 339097, NC_000007.14:g.128759170=, 56844598, NG_033110.1:g.24879=, NG_033110.1:g.24879A>G, NC_000007.14:g.128759170A>G, rs339097, NM_001199672.1:c.606+133A>G, rs386582001, NC_000007.13:g.128399224A>G, NM_001199673.1:c.582+133A>G, 1668425, NM_001130674.2:c.582+133A>G, NM_001219.4:c.582+133A>G, rs56844598, NC_000007.13:g.128399224=, NR_074086.1:n.308+133A>G +PA166155483 rs33926104 PA123 CYP2B6 NC_000019.10:40991390 1 0 0 0 0 XM_011526547.1:c.85C>T, XP_005258627.1:p.Arg29Ser, XP_006723113.1:p.Arg29Cys, XP_011524849.1:p.Arg29Cys, XM_005258570.1:c.85C>A, XP_011524850.1:p.Arg29Ser, NP_000758.1:p.Arg29Cys, XP_005258626.1:p.Arg29Ser, NM_000767.4:c.85C>A, XM_011526548.1:c.85C>A, XM_005258569.1:c.85C>T, XM_011526547.1:c.85C>A, XM_005258569.3:c.85C>A, XP_011524848.1:p.Arg29Cys, NG_055439.1:g.2438=, NP_000758.1:p.Arg29=, NC_000019.10:g.40991390=, XM_005258570.1:c.85C>T, NG_055439.1:g.2438C>A, XM_011526548.1:c.85C>T, XM_011526546.1:c.85C>T, XP_005258627.1:p.Arg29Cys, XP_011524849.1:p.Arg29Ser, XP_006723113.1:p.Arg29Ser, NC_000019.9:g.41497295=, XM_005258569.3:c.85C>T, XM_006723050.2:c.85C>A, NG_007929.1:g.5092C>T, XP_005258626.1:p.Arg29Cys, NG_055439.1:g.2438C>T, NC_000019.9:g.41497295C>T, XM_005258569.1:c.85C>A, NC_000019.10:g.40991390C>T, XP_011524850.1:p.Arg29Cys, 33926104, XM_011526546.1:c.85C>A, NP_000758.1:p.Arg29Ser, rs33926104, NG_007929.1:g.5092=, XM_006723050.2:c.85C>T, XP_011524848.1:p.Arg29Ser, NM_000767.4:c.85C>T, NC_000019.10:g.40991390C>A, NC_000019.9:g.41497295C>A, NG_007929.1:g.5092C>A +PA166176809 rs3393 PA24589,PA166123749 ADORA3,TMIGD3 NC_000001.11:111499527 3 0 0 0 0 61713687, NC_000001.10:g.112042149C>T, 1042060, NG_032119.1:g.69449G>A, NC_000001.11:g.111499527=, 60682483, 3181535, 3393, rs3393, 715206, NG_032119.1:g.69449=, NC_000001.10:g.112042149=, 17027816, NC_000001.11:g.111499527C>T +PA166176805 rs3394 PA24589,PA166123749 ADORA3,TMIGD3 NC_000001.11:111499509 1 0 0 0 0 NC_000001.11:g.111499509=, NC_000001.10:g.112042131T>G, NC_000001.11:g.111499509T>G, rs3394, NC_000001.10:g.112042131T>A, 3394, 60229664, NC_000001.10:g.112042131T>C, NG_032119.1:g.69467A>T, NG_032119.1:g.69467=, NC_000001.10:g.112042131=, NC_000001.11:g.111499509T>A, NG_032119.1:g.69467A>G, 17838160, NG_032119.1:g.69467A>C, NC_000001.11:g.111499509T>C +PA166153542 rs3397 PA36610 TNFRSF1B NC_000001.11:12207235 3 1 0 0 0 NC_000001.10:g.12267292=, XM_011542060.1:c.*215C>T, 3397, NC_000001.11:g.12207235=, NC_000001.10:g.12267292C>T, rs3397, rs3737956, 3737956, NC_000001.11:g.12207235C>T, XM_011542063.1:c.*215C>T, NM_001066.2:c.*215C>T, NG_029791.1:g.45233=, XM_011542061.1:c.*215C>T, NG_029791.1:g.45233C>T, XR_244793.1:n.1593C>T, XM_011542062.1:c.*215C>T +PA166155484 rs33973337 PA123 CYP2B6 NC_000019.10:40991381 1 0 0 0 0 NG_055439.1:g.2429A>T, XP_005258626.1:p.Thr26Ser, XM_005258570.1:c.76A>T, XM_011526548.1:c.76A>T, rs57870590, rs33973337, NM_000767.4:c.76A>T, NC_000019.9:g.41497286A>T, NG_007929.1:g.5083=, NP_000758.1:p.Thr26Ser, XP_011524850.1:p.Thr26Ser, XM_011526546.1:c.76A>T, XM_006723050.2:c.76A>T, NC_000019.10:g.40991381A>T, NG_007929.1:g.5083A>T, 33973337, XM_011526547.1:c.76A>T, XP_011524848.1:p.Thr26Ser, XP_006723113.1:p.Thr26Ser, XM_005258569.1:c.76A>T, XP_011524849.1:p.Thr26Ser, XM_005258569.3:c.76A>T, NP_000758.1:p.Thr26=, NG_055439.1:g.2429=, NC_000019.9:g.41497286=, XP_005258627.1:p.Thr26Ser, NC_000019.10:g.40991381=, 57870590 +PA166155485 rs33980385 PA123 CYP2B6 NC_000019.10:40991388 1 0 0 0 0 XP_011524850.1:p.Asp28Gly, NM_000767.4:c.83A>G, XM_011526547.1:c.83A>G, XM_011526548.1:c.83A>G, XP_005258627.1:p.Asp28Gly, 33980385, NG_055439.1:g.2436=, NG_055439.1:g.2436A>G, rs33980385, XP_005258626.1:p.Asp28Gly, XM_005258569.3:c.83A>G, XM_006723050.2:c.83A>G, NC_000019.10:g.40991388A>G, XM_005258569.1:c.83A>G, XP_011524848.1:p.Asp28Gly, NC_000019.9:g.41497293=, XP_011524849.1:p.Asp28Gly, NC_000019.10:g.40991388=, XM_011526546.1:c.83A>G, XM_005258570.1:c.83A>G, NP_000758.1:p.Asp28=, XP_006723113.1:p.Asp28Gly, NG_007929.1:g.5090A>G, NG_007929.1:g.5090=, NC_000019.9:g.41497293A>G, NP_000758.1:p.Asp28Gly +PA166170321 rs33980500 PA25938,PA25931 TRAF3IP2,TRAF3IP2-AS1 NC_000006.12:111592059 2 0 0 0 0 NC_000006.12:g.111592059C>T, NG_032030.1:g.19216=, NG_032030.2:g.18820G>A, NC_000006.11:g.111913262=, NC_000006.12:g.111592059=, NC_000006.11:g.111913262C>T, NP_679211.2:p.Asp10=, NG_032030.1:g.19216G>A, NG_032030.2:g.18820=, 33980500, NP_679211.2:p.Asp10Asn, rs33980500 +PA166157196 rs34059508 PA329 SLC22A1 NC_000006.12:160154805 21 1 0 0 0 XM_005267105.1:c.817G>A, 34059508, NP_003048.1:p.Gly465Arg, XM_005267103.1:c.1393G>A, rs34059508, XP_005267160.1:p.Gly465Arg, XP_005267161.1:p.Gly273Arg, XM_005267102.3:c.1393G>A, XP_011534376.1:p.Gly273Arg, XP_005267162.1:p.Gly273Arg, NC_000006.12:g.160154805G>C, NC_000006.12:g.160154805G>A, rs45476695, XM_005267102.1:c.1393G>A, XP_005267159.1:p.Gly465Arg, NC_000006.12:g.160154805=, NM_153187.1:c.1386-1170G>A, NC_000006.11:g.160575837=, 45476695, XM_006715552.1:c.1386-3711G>A, rs57829971, XM_011536074.1:c.817G>A, 57829971, XM_005267105.3:c.817G>A, NC_000006.11:g.160575837G>C, NP_003048.1:p.Gly465=, NC_000006.11:g.160575837G>A, XM_005267104.1:c.817G>A, NM_003057.2:c.1393G>A, XM_005267104.3:c.817G>A +PA166153570 rs340874 PA33812,PA166129563 PROX1,PROX1-AS1 NC_000001.11:213985913 1 1 0 0 0 NC_000001.10:g.214159256=, NC_000001.11:g.213985913=, NR_037850.2:n.85+156A>G, XR_247057.1:n.736+156A>G, rs340874, XM_011509773.1:c.-68+2590T>C, rs17763242, rs58436202, NC_000001.10:g.214159256T>C, XR_247058.1:n.736+156A>G, 17763242, NC_000001.11:g.213985913T>C, 340874, 58436202 +PA166155486 rs34097093 PA123 CYP2B6 NC_000019.10:41012465 2 2 2 0 0 XM_011526548.1:c.652C>T, XP_011524850.1:p.Arg218Ter, XM_006723050.2:c.1132C>T, XP_011524848.1:p.Arg378Ter, NC_000019.9:g.41518370C>T, NC_000019.10:g.41012465C>T, XM_005258571.1:c.532C>T, XM_005258569.1:c.1132C>T, XP_011524851.1:p.Arg181Ter, XM_011526550.1:c.532C>T, XP_005258626.1:p.Arg378Ter, XM_005258570.1:c.1132C>T, XM_011526549.1:c.541C>T, XP_011524852.1:p.Arg178Ter, NC_000019.10:g.41012465=, XP_005258628.1:p.Arg178Ter, 34097093, NP_000758.1:p.Arg378=, XP_006723113.1:p.Arg378Ter, XM_005258569.3:c.1132C>T, XP_011524849.1:p.Arg378Ter, XM_011526546.1:c.1132C>T, rs34097093, NP_000758.1:p.Arg378Ter, XM_011526547.1:c.1132C>T, NM_000767.4:c.1132C>T, NG_007929.1:g.26167=, XP_005258627.1:p.Arg378Ter, NG_007929.1:g.26167C>T, NC_000019.9:g.41518370= +PA166156678 rs34115976 PA164722874,PA37195 MIR577,UGT8 NC_000004.12:114656841 1 0 0 0 0 NC_000004.12:g.114656841C>A, NC_000004.11:g.115577997=, XM_006714302.2:c.823-7154C>G, XM_006714303.2:c.823-7154C>G, NR_030303.1:n.83C>G, 34115976, NM_003360.3:c.823-7154C>G, NC_000004.12:g.114656841C>G, XR_244645.1:n.1052-7154C>G, NC_000004.11:g.115577997C>G, NM_001128174.1:c.823-7154C>G, NC_000004.12:g.114656841=, rs34115976, XM_011532232.1:c.823-7154C>G, NC_000004.11:g.115577997C>A +PA166155866 rs34116584 PA24633 AGXT NC_000002.12:240868897 1 0 0 0 0 NC_000002.12:g.240868897C>A, NP_000021.1:p.Pro11Leu, NC_000002.11:g.241808314C>T, NM_000030.2:c.32C>A, rs34116584, NP_000021.1:p.Pro11Arg, NG_008005.1:g.5153C>T, NM_000030.2:c.32C>G, XR_924060.1:n.405+1336G>C, XR_924060.1:n.405+1336G>A, NC_000002.11:g.241808314C>A, NP_000021.1:p.Pro11His, NP_000021.1:p.Pro11=, 34116584, NC_000002.11:g.241808314C>G, NM_000030.2:c.32C>T, NC_000002.12:g.240868897C>T, NC_000002.11:g.241808314=, NC_000002.12:g.240868897C>G, NG_008005.1:g.5153C>G, NC_000002.12:g.240868897=, NG_008005.1:g.5153C>A, XR_924060.1:n.405+1336G>T, NG_008005.1:g.5153= +PA166157197 rs34130495 PA329 SLC22A1 NC_000006.12:160139792 17 1 0 0 0 NP_694857.1:p.Gly401Ser, XM_011536074.1:c.625G>A, 34130495, XM_006715552.1:c.1201G>A, NC_000006.11:g.160560824G>A, XM_005267102.3:c.1201G>A, NM_153187.1:c.1201G>A, XM_005267104.1:c.625G>A, 45512393, NC_000006.12:g.160139792G>A, XM_005267104.3:c.625G>A, XP_006715615.1:p.Gly401Ser, XM_005267105.1:c.625G>A, NM_003057.2:c.1201G>A, XP_005267159.1:p.Gly401Ser, XM_005267102.1:c.1201G>A, XM_005267103.1:c.1201G>A, XP_005267161.1:p.Gly209Ser, NP_003048.1:p.Gly401=, XP_011534376.1:p.Gly209Ser, rs45512393, NC_000006.12:g.160139792=, rs34130495, XP_005267162.1:p.Gly209Ser, XM_005267105.3:c.625G>A, NP_003048.1:p.Gly401Ser, NC_000006.11:g.160560824=, XP_005267160.1:p.Gly401Ser +PA166170188 rs34186955 PA24679 AKR1C3 NC_000010.11:5099417 2 0 0 0 0 34186955, NP_003730.4:p.Pro180Ser, NC_000010.10:g.5141609C>G, NP_003730.4:p.Pro180=, NG_047094.1:g.55652C>G, NC_000010.11:g.5099417C>T, rs34186955, 386487230, NC_000010.11:g.5099417C>G, NC_000010.11:g.5099417=, NG_047094.1:g.55652=, NG_047094.1:g.55652C>T, NP_003730.4:p.Pro180Ala, NC_000010.10:g.5141609C>T, NC_000010.10:g.5141609= +PA166155487 rs34223104 PA123 CYP2B6 NC_000019.10:40991224 7 1 1 0 0 NM_000767.4:c.-82T>C, XM_005258569.3:c.-82T>C, NC_000019.10:g.40991224=, NC_000019.10:g.40991224T>C, XM_005258570.1:c.-82T>C, 34223104, NG_055439.1:g.2272T>C, NG_007929.1:g.4926T>C, XM_011526547.1:c.-82T>C, NC_000019.9:g.41497129=, XM_005258569.1:c.-82T>C, NC_000019.9:g.41497129T>C, XM_006723050.2:c.-82T>C, rs34223104, NG_007929.1:g.4926=, NG_055439.1:g.2272=, XM_011526546.1:c.-82T>C, XM_011526548.1:c.-82T>C +PA166157255 rs342293 NC_000007.14:106731773 1 1 0 0 0 342293, rs342293, NC_000007.14:g.106731773=, NC_000007.13:g.106372219C>G, NC_000007.14:g.106731773C>G, rs56803174, 431956, NC_000007.13:g.106372219=, rs431956, 56803174 +PA166155260 rs34230287 PA60 ARRB2 NC_000017.11:4710335 1 0 0 0 0 NM_001257328.1:c.-387C>T, NM_004313.3:c.-387C>T, NM_001257329.1:c.-387C>T, XM_011523858.1:c.-439C>T, NC_000017.10:g.4613630C>T, NR_047516.1:n.-159C>T, rs34230287, NM_001257330.1:c.-387C>T, NM_001257331.1:c.-387C>T, XM_006721520.1:c.-887C>T, NC_000017.11:g.4710335C>T, 34230287, NC_000017.10:g.4613630=, NM_199004.1:c.-387C>T, XM_011523859.1:c.-439C>T, NC_000017.11:g.4710335= +PA166156679 rs34231037 PA30086 KDR NC_000004.12:55106779 4 1 0 0 0 34231037, NP_002244.1:p.Cys482Arg, NP_002244.1:p.Cys482=, NC_000004.11:g.55972946A>G, NG_012004.1:g.23817T>C, NC_000004.11:g.55972946=, rs34231037, NC_000004.12:g.55106779A>G, NC_000004.12:g.55106779=, NM_002253.2:c.1444T>C, NG_012004.1:g.23817= +PA166155128 rs34241435 PA306 SCNN1B NC_000016.10:23301864 2 0 0 0 0 NC_000016.9:g.23313185G>A, rs34241435, NC_000016.10:g.23301864=, NC_000016.9:g.23313185=, NG_011908.1:g.4595G>A, NG_011908.1:g.4595=, NM_000336.2:c.-582G>A, XM_011545913.1:c.-574G>A, NC_000016.10:g.23301864G>A, 34241435 +PA166155488 rs34284776 PA123 CYP2B6 NC_000019.10:40991391 1 0 0 0 0 XM_005258569.1:c.86G>C, NC_000019.10:g.40991391G>C, XM_006723050.2:c.86G>C, XM_011526546.1:c.86G>C, NG_007929.1:g.5093=, NG_007929.1:g.5093G>C, 34284776, XP_005258627.1:p.Arg29Pro, rs34284776, NP_000758.1:p.Arg29=, NC_000019.9:g.41497296G>C, XP_005258626.1:p.Arg29Pro, NC_000019.9:g.41497296G>A, NG_007929.1:g.5093G>A, NC_000019.10:g.40991391G>A, NP_000758.1:p.Arg29His, XP_011524848.1:p.Arg29Pro, NM_000767.4:c.86G>C, XM_011526547.1:c.86G>C, XM_005258570.1:c.86G>C, XP_006723113.1:p.Arg29Pro, XM_011526548.1:c.86G>C, NG_055439.1:g.2439=, NC_000019.9:g.41497296=, NG_055439.1:g.2439G>C, XP_011524849.1:p.Arg29Pro, NG_055439.1:g.2439G>A, NP_000758.1:p.Arg29Pro, XM_005258569.3:c.86G>C, XP_011524850.1:p.Arg29Pro, NC_000019.10:g.40991391= +PA166157198 rs34324334 PA134979214 XPO5 NC_000006.12:43567281 1 0 0 0 0 34324334, NC_000006.12:g.43567281C>T, NC_000006.12:g.43567281=, rs34324334, NP_065801.1:p.Ser241Asn, NG_051658.1:g.13795G>A, NM_020750.2:c.722G>A, NC_000006.11:g.43535018C>T, NP_065801.1:p.Ser241=, NC_000006.11:g.43535018=, NG_051658.1:g.13795= +PA166157199 rs34376145 PA35822 SLC17A3 NC_000006.12:25850821 1 0 0 0 0 NP_006623.2:p.Val179Phe, 34376145, NC_000006.12:g.25850821=, NP_001091956.1:p.Val257Phe, NP_006623.2:p.Val179=, NM_001098486.1:c.769G>T, NG_032922.1:g.28423G>T, NM_006632.3:c.535G>T, XM_005248819.1:c.142G>T, NC_000006.12:g.25850821C>T, NC_000006.11:g.25851049=, NC_000006.11:g.25851049C>A, NG_032922.1:g.28423G>A, NC_000006.12:g.25850821C>A, NC_000006.11:g.25851049C>T, rs34376145, XP_005248876.1:p.Val48Phe, NG_032922.1:g.28423=, NP_006623.2:p.Val179Ile +PA166296621 rs34394661 PA26239 CD80 NC_000003.12:119560301 1 0 0 0 0 rs34394661, NC_000003.11:g.119279148=, 34394661, NC_000003.12:g.119560301G>A, NC_000003.11:g.119279148G>A, NC_000003.12:g.119560301=, NC_000003.12:g.119560301G>C, NC_000003.12:g.119560301G>T, NC_000003.11:g.119279148G>C, NC_000003.11:g.119279148G>T +PA166155261 rs34399035 PA162403847 SLC47A2 NC_000017.11:19681658 1 0 0 0 0 XM_011523674.1:c.1072G>A, XR_243543.3:n.1710G>A, XP_005256528.1:p.Gly344Arg, XM_011523672.1:c.1177G>A, XR_243543.1:n.2545G>A, NG_052805.1:g.42322G>A, NM_152908.3:c.1285G>A, XM_005256472.1:c.1030G>A, rs34399035, XP_011521976.1:p.Gly358Arg, NP_690872.2:p.Gly429=, XM_011523673.1:c.1072G>A, NM_001256663.1:c.1219G>A, 34399035, XP_011521974.1:p.Gly393Arg, NP_001243592.1:p.Gly407Arg, XR_934000.1:n.1252G>A, NC_000017.11:g.19681658C>T, XM_005256471.1:c.1030G>A, XP_005256529.1:p.Gly344Arg, XP_011521975.1:p.Gly358Arg, NP_690872.2:p.Gly429Arg, NC_000017.10:g.19584971=, NM_001099646.1:c.1177G>A, XR_933998.1:n.1603G>A, NG_052805.1:g.42322=, NC_000017.11:g.19681658=, NC_000017.10:g.19584971C>T, NP_001093116.1:p.Gly393Arg +PA166316801 rs34532201 PA126 CYP2C9 NC_000010.11:94950407 1 0 0 0 0 NC_000010.10:g.96710164C>T, NC_000010.10:g.96710164=, NG_008385.2:g.17250C>T, NC_000010.11:g.94950407=, 34532201, rs34532201, NC_000010.11:g.94950407C>T, NG_008385.2:g.17250= +PA166257841 rs34545984 NC_000010.11:23415430 1 1 0 0 0 34545984, rs34545984, NC_000010.10:g.23704359=, NC_000010.11:g.23415430=, NC_000010.10:g.23704359G>T, NC_000010.11:g.23415430G>T +PA166157486 rs34548976 NC_000007.14:31032854 1 1 0 0 0 NC_000007.14:g.31032854=, NC_000007.13:g.31072469=, 57244668, rs57244668, 34548976, NC_000007.13:g.31072469C>T, rs34548976, NC_000007.14:g.31032854C>T +PA166169840 rs34550074 PA35840 SLCO2A1 NC_000003.12:133947365 1 1 0 0 0 NP_005621.2:p.Ala396=, NC_000003.12:g.133947365=, NC_000003.12:g.133947365C>T, NC_000003.11:g.133666209=, NP_005621.2:p.Ala396Thr, NC_000003.11:g.133666209C>T, 34550074, NG_031964.2:g.109820=, NC_000003.12:g.133947365C>G, NP_005621.2:p.Ala396Pro, NG_031964.2:g.109820G>A, NG_031964.3:g.109820G>C, NG_031964.2:g.109820G>C, NG_031964.3:g.109820G>A, rs34550074, NC_000003.11:g.133666209C>G, NG_031964.3:g.109820= +PA166179910 rs346070 PA29456 HRH1 NC_000003.12:11262188 1 0 0 0 0 NC_000003.11:g.11303874T>A, NC_000003.11:g.11303874T>C, NC_000003.11:g.11303874=, 57462931, NC_000003.12:g.11262188T>A, 346070, rs346070, NC_000003.12:g.11262188T>C, NC_000003.12:g.11262188= +PA166179909 rs346076 PA29456 HRH1 NC_000003.12:11250996 1 0 0 0 0 386582720, 346076, NC_000003.12:g.11250996C>G, 56470382, NC_000003.11:g.11292682C>G, 10289928, NC_000003.12:g.11250996=, NC_000003.12:g.11250996C>T, rs346076, 347605, NC_000003.11:g.11292682=, 773304, 59164207, NC_000003.11:g.11292682C>T +PA166161456 rs34650714 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233767183 2 1 0 0 0 NG_033238.1:g.11911=, rs34650714, NC_000002.11:g.234675829=, NC_000002.12:g.233767183C>T, NG_002601.2:g.182440C>T, 35072246, NC_000002.12:g.233767183=, NC_000002.11:g.234675829C>T, NG_002601.2:g.182440=, NG_033238.1:g.11911C>T, 34650714 +PA166154648 rs34671512 PA134865839 SLCO1B1 NC_000012.12:21239042 4 0 0 0 0 NC_000012.11:g.21391976A>C, 34671512, NC_000012.12:g.21239042A>C, NM_006446.4:c.1929A>C, 61617271, NC_000012.11:g.21391976=, NC_000012.12:g.21239042=, NG_011745.1:g.112849=, NG_011745.1:g.112849A>C, rs61617271, NP_006437.3:p.Leu643=, rs34671512, NP_006437.3:p.Leu643Phe +PA166155489 rs34698757 PA123 CYP2B6 NC_000019.10:41010088 1 2 2 0 0 XM_005258569.1:c.917C>T, XM_011526548.1:c.485-2210C>T, XM_011526550.1:c.365-2210C>G, XP_011524849.1:p.Thr306Ile, 34698757, NC_000019.10:g.41010088=, XM_006723050.2:c.917C>G, XM_005258571.1:c.365-2210C>G, XM_005258569.1:c.917C>G, XM_011526549.1:c.326C>T, XP_005258627.1:p.Thr306Ser, XP_005258627.1:p.Thr306Ile, XM_011526550.1:c.365-2210C>T, XP_011524848.1:p.Thr306Ser, XM_006723050.2:c.917C>T, XM_011526549.1:c.326C>G, XM_005258569.3:c.917C>G, NP_000758.1:p.Thr306=, NM_000767.4:c.917C>G, XP_011524851.1:p.Thr109Ile, NG_007929.1:g.23790C>T, NC_000019.9:g.41515993C>G, XP_011524851.1:p.Thr109Ser, NC_000019.9:g.41515993C>T, XP_011524848.1:p.Thr306Ile, XM_005258570.1:c.917C>T, XM_011526546.1:c.917C>G, NC_000019.9:g.41515993=, XM_005258569.3:c.917C>T, XM_011526547.1:c.917C>T, NC_000019.10:g.41010088C>T, NP_000758.1:p.Thr306Ile, NC_000019.10:g.41010088C>G, XP_006723113.1:p.Thr306Ile, rs34698757, NG_007929.1:g.23790C>G, XM_011526547.1:c.917C>G, XP_006723113.1:p.Thr306Ser, NG_007929.1:g.23790=, NM_000767.4:c.917C>T, XM_011526548.1:c.485-2210C>G, XM_005258570.1:c.917C>G, XP_005258626.1:p.Thr306Ser, XP_011524849.1:p.Thr306Ser, XM_005258571.1:c.365-2210C>T, NP_000758.1:p.Thr306Ser, XM_011526546.1:c.917C>T, XP_005258626.1:p.Thr306Ile +PA166155490 rs34716810 PA24685 AKT2 NC_000019.10:40286682 1 0 0 0 0 62107592, NC_000019.9:g.40792589=, XM_011526622.1:c.-1586C>T, rs34716810, XM_011526620.1:c.-1319C>T, NM_001243027.2:c.-1735C>T, XM_011526621.1:c.-1718C>T, NC_000019.9:g.40792589G>C, NC_000019.10:g.40286682G>A, NC_000019.9:g.40792589G>A, NC_000019.10:g.40286682G>C, NG_012038.2:g.3677=, NG_012038.2:g.3677C>T, XM_005258648.1:c.-1319C>T, XM_011526618.1:c.-2002C>T, rs62107592, NM_001243028.2:c.-1642C>T, XM_011526617.1:c.-2299C>T, XR_935967.1:n.169+83G>A, XM_005258650.1:c.-1586C>T, 34716810, NG_012038.2:g.3677C>G, NM_001626.5:c.-1586C>T, NC_000019.10:g.40286682= +PA166153877 rs34717272 PA34372 RGS2 NC_000001.11:192810962_192810963 1 0 0 0 0 NG_012800.1:g.6924_6925delTC, NC_000001.10:g.192780092_192780093=, NC_000001.11:g.192810962_192810963delinsCT, NC_000001.11:g.192810962_192810963=, rs34717272, NC_000001.10:g.192780092_192780093delTC, NM_002923.3:c.275-19_275-18del, NG_012800.1:g.6924_6925delinsCT, NC_000001.10:g.192780092_192780093delinsCT, 34717272, NC_000001.11:g.192810962_192810963delTC, NG_012800.1:g.6924_6925=, NM_002923.3:c.275-19_275-18delTC +PA166250961 rs34743033 PA359 TYMS NC_000018.10:657657_657730 4 0 0 0 0 NC_000018.9:g.657657_657730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG, NC_000018.10:g.657657_657730=, NG_028255.1:g.5054_5127=, NC_000018.10:g.657657_657730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG, NG_028255.1:g.5054_5127delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG, NC_000018.9:g.657657_657730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG, NC_000018.10:g.657657_657730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG, NG_028255.1:g.5054_5127delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG, NC_000018.10:g.657657_657730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG, 34743033, NC_000018.9:g.657657_657730=, NG_028255.1:g.5054_5127delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG, NC_000018.9:g.657657_657730delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG, rs34743033 +PA166282902 rs34767465 NC_000005.10:154063336 1 0 0 0 0 34767465, rs34767465, NC_000005.10:g.154063336=, NC_000005.9:g.153442896=, NC_000005.9:g.153442896A>T, NC_000005.10:g.154063336A>T +PA166155491 rs34826503 PA123 CYP2B6 NC_000019.10:41012339 1 0 0 0 0 NP_000758.1:p.Arg336=, XM_005258570.1:c.1006C>T, XM_006723050.2:c.1006C>T, XP_005258626.1:p.Arg336Cys, XM_011526550.1:c.406C>T, XM_005258569.1:c.1006C>T, XP_011524848.1:p.Arg336Cys, NC_000019.10:g.41012339C>T, NC_000019.9:g.41518244C>T, NC_000019.9:g.41518244=, 34826503, NM_000767.4:c.1006C>T, XM_005258569.3:c.1006C>T, XM_011526546.1:c.1006C>T, XP_011524851.1:p.Arg139Cys, rs34826503, NG_007929.1:g.26041C>T, NP_000758.1:p.Arg336Cys, XM_011526547.1:c.1006C>T, XP_005258627.1:p.Arg336Cys, XM_011526549.1:c.415C>T, XM_005258571.1:c.406C>T, NG_007929.1:g.26041=, XP_011524849.1:p.Arg336Cys, XM_011526548.1:c.526C>T, XP_011524850.1:p.Arg176Cys, XP_011524852.1:p.Arg136Cys, XP_006723113.1:p.Arg336Cys, XP_005258628.1:p.Arg136Cys, NC_000019.10:g.41012339= +PA166155262 rs34834489 PA162403847 SLC47A2 NC_000017.11:19716951 3 1 0 0 0 XM_006721457.2:c.-396C>T, XM_011523673.1:c.-25+511C>T, NC_000017.11:g.19716951G>A, XM_006721455.2:c.-396C>T, NC_000017.11:g.19716951=, NC_000017.11:g.19716951G>C, NM_001099646.1:c.-396C>T, 34834489, XM_011523675.1:c.-396C>T, NM_152908.3:c.-396C>T, XM_011523674.1:c.-25+511C>T, NG_052805.1:g.7029=, rs34834489, XR_933998.1:n.-287C>T, NC_000017.10:g.19620264G>A, NM_001256663.1:c.-396C>T, XR_243543.3:n.732+1160C>T, XR_933999.1:n.-287C>T, XM_005256471.1:c.-25+1160C>T, NC_000017.10:g.19620264G>C, XM_005256473.1:c.-396C>T, rs57470573, XR_934000.1:n.-287C>T, 57470573, XR_934001.1:n.-287C>T, NG_052805.1:g.7029C>T, NC_000017.10:g.19620264=, XR_243543.1:n.1567+1160C>T, XM_011523672.1:c.81+1275C>T, NG_052805.1:g.7029C>G, XM_005256472.1:c.-25+511C>T +PA166156681 rs34897046 PA26609 CLOCK NC_000004.12:55459198 1 0 0 0 0 rs34897046, XM_011534411.1:c.623C>G, NM_001267843.1:c.623C>G, NP_001254772.1:p.Ser208Cys, XM_011534410.1:c.623C>G, NC_000004.12:g.55459198=, XP_011532711.1:p.Ser208Cys, XP_005265844.1:p.Ser208Cys, XM_011534409.1:c.623C>G, 34897046, XP_011532712.1:p.Ser208Cys, NC_000004.11:g.56325365=, NP_004889.1:p.Ser208=, XM_006714054.2:c.623C>G, XP_011532713.1:p.Ser208Cys, NC_000004.11:g.56325365G>C, NC_000004.12:g.55459198G>C, NM_004898.3:c.623C>G, XM_005265787.1:c.623C>G, XP_006714117.1:p.Ser208Cys, NP_004889.1:p.Ser208Cys +PA166157200 rs34902660 PA35822 SLC17A3 NC_000006.12:25850874 1 0 0 0 0 NC_000006.11:g.25851102C>A, NG_032922.1:g.28370G>T, NG_032922.1:g.28370=, rs34902660, NM_006632.3:c.482G>T, NC_000006.12:g.25850874=, NP_001091956.1:p.Gly239Val, XP_005248876.1:p.Gly30Val, NC_000006.12:g.25850874C>A, NP_006623.2:p.Gly161=, 34902660, NM_001098486.1:c.716G>T, NC_000006.11:g.25851102=, NP_006623.2:p.Gly161Val, XM_005248819.1:c.89G>T +PA166178021 rs34911792 PA109 CFTR NC_000007.14:117627758 1 1 0 0 1 NG_016465.4:g.166975=, NC_000007.14:g.117627758=, NP_000483.3:p.Ser1235Arg, 34911792, NP_000483.3:p.Ser1235=, rs34911792, NC_000007.13:g.117267812=, NC_000007.14:g.117627758T>G, NC_000007.13:g.117267812T>G, NG_016465.4:g.166975T>G +PA166268281 rs34912216 PA134957188 SDK1 NC_000007.14:4078745 1 0 0 0 0 34912216, NC_000007.13:g.4118377=, 57294298, NC_000007.14:g.4078745=, NC_000007.13:g.4118377G>A, NG_051298.1:g.782298=, NC_000007.14:g.4078745G>A, NG_051298.1:g.782298G>A, rs34912216 +PA166155868 rs34946978 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233768226 1 0 0 0 0 NP_061950.2:p.Pro361Leu, NG_002601.2:g.183483C>G, NP_066307.1:p.Pro361Leu, XR_241241.1:n.1168C>T, NC_000002.12:g.233768226C>T, NM_019075.2:c.1082C>T, NM_019076.4:c.1082C>T, NP_061949.3:p.Pro361Arg, NM_019093.2:c.1094C>T, NC_000002.11:g.234676872C>G, NP_061949.3:p.Pro361Leu, NM_019077.2:c.1082C>T, NM_019078.1:c.1094C>T, XR_241238.1:n.1150C>T, NM_205862.1:c.287C>T, XR_241240.1:n.1249C>T, NM_021027.2:c.1082C>T, NP_000454.1:p.Pro364Leu, NP_061948.1:p.Pro361Leu, NP_061951.1:p.Pro365Leu, NM_000463.2:c.1091C>T, NP_001063.2:p.Pro363Leu, NG_033238.1:g.12954=, NP_995584.1:p.Pro96Leu, NG_033238.1:g.12954C>T, rs34946978, NM_001072.3:c.1088C>T, NC_000002.12:g.233768226=, NP_061966.1:p.Pro365Leu, NC_000002.11:g.234676872C>T, NC_000002.11:g.234676872=, NG_002601.2:g.183483C>T, NP_009051.1:p.Pro365Leu, NP_061949.3:p.Pro361=, NG_002601.2:g.183483=, NC_000002.12:g.233768226C>G, NM_007120.2:c.1094C>T, 34946978, XR_241239.1:n.1113C>T, NG_033238.1:g.12954C>G +PA166156891 rs34965641 PA143 DHFR NC_000005.10:80646557 1 0 0 0 0 XM_005248455.1:c.131+2832C>T, NG_023304.1:g.13425=, NC_000005.10:g.80646557G>A, 386583121, NR_110936.1:n.684+2832C>T, NC_000005.9:g.79942376G>A, NC_000005.10:g.80646557=, 34965641, NM_001290357.1:c.242+2832C>T, NM_001290354.1:c.86+2832C>T, rs34965641, NG_023304.1:g.13425C>T, NC_000005.9:g.79942376=, rs386583121, NM_000791.3:c.242+2832C>T, XM_005248456.1:c.86+2832C>T +PA166155869 rs34993780 PA164720351,PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 MROH2A,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233772413 2 1 0 0 0 NG_002601.2:g.187670T>C, NG_033238.1:g.17141T>A, 34993780, NG_033238.1:g.17141T>C, NP_995584.1:p.Tyr218Asp, NG_002601.2:g.187670T>G, NP_001063.2:p.Tyr485Asp, NG_033238.1:g.17141T>G, NM_019078.1:c.1459T>G, UGT1A1*7, NP_061966.1:p.Tyr487Asp, NG_002601.2:g.187670T>A, 111342064, NM_019076.4:c.1447T>G, NM_019093.2:c.1459T>G, rs45621335, rs111342064, NG_002601.2:g.187670=, NM_021027.2:c.1447T>G, NC_000002.11:g.234681059=, NC_000002.12:g.233772413T>C, NC_000002.12:g.233772413T>G, NG_051337.1:g.1752T>A, XR_241239.1:n.1612T>G, NP_061949.3:p.Tyr483=, NG_051337.1:g.1752T>G, NG_051337.1:g.1752T>C, NP_061948.1:p.Tyr483Asp, NC_000002.12:g.233772413=, NP_061951.1:p.Tyr487Asp, XR_241238.1:n.1649T>G, XR_241241.1:n.1667T>G, rs34993780, NM_001072.3:c.1453T>G, NM_019077.2:c.1447T>G, NC_000002.11:g.234681059T>C, NP_061949.3:p.Tyr483His, NC_000002.12:g.233772413T>A, NC_000002.11:g.234681059T>G, NM_019075.2:c.1447T>G, XR_241240.1:n.1748T>G, NP_066307.1:p.Tyr483Asp, NP_061950.2:p.Tyr483Asp, NP_061949.3:p.Tyr483Asn, NM_000463.2:c.1456T>G, NM_007120.2:c.1459T>G, 45621335, NC_000002.11:g.234681059T>A, NM_205862.1:c.652T>G, NP_009051.1:p.Tyr487Asp, NP_061949.3:p.Tyr483Asp, NG_051337.1:g.1752=, NP_000454.1:p.Tyr486Asp, NG_033238.1:g.17141= +PA166215001 rs35060421 PA24584,PA165378332 ADORA2A,ADORA2A-AS1 NC_000022.11:24441942_24441947 1 0 0 0 0 NC_000022.11:g.24441947dup, 71670083, 375648632, 72591415, NG_052804.1:g.23351dup, NG_052804.1:g.23346_23351=, 60657755, NC_000022.11:g.24441942_24441947=, NC_000022.10:g.24837915del, 148958872, 72559617, 35060421, NC_000022.11:g.24441947del, 143117980, NC_000022.10:g.24837910_24837915=, NC_000022.10:g.24837915dup, NG_052804.1:g.23351del, rs35060421 +PA166181205 rs35068180 PA30886 MMP3 NC_000011.10:102845217_102845220 3 2 0 0 0 NG_012100.1:g.3391_3395=, NG_012100.1:g.3395dup, 141680807, NC_000011.10:g.102845221dup, 35068180, NC_000011.9:g.102715952dup, NG_012100.1:g.3395del, NC_000011.10:g.102845221del, NC_000011.9:g.102715952del, rs35068180, NC_000011.10:g.102845217_102845221=, NC_000011.9:g.102715948_102715952= +PA166246021 rs35084477 PA24363 AADAC NC_000003.12:151824745 1 0 0 0 0 rs35084477, NC_000003.12:g.151824745G>C, NP_001077.2:p.Val172Leu, NC_000003.11:g.151542533G>T, NP_001077.2:p.Val172Ile, NC_000003.11:g.151542533=, NC_000003.12:g.151824745=, 35084477, NC_000003.12:g.151824745G>T, NC_000003.11:g.151542533G>C, NC_000003.12:g.151824745G>A, NP_001077.2:p.Val172Phe, NP_001077.2:p.Val172=, NC_000003.11:g.151542533G>A +PA166156016 rs35112095 PA35892 SLC37A1 NC_000021.9:42569923 1 0 0 0 0 NC_000021.8:g.43990033G>A, XM_011529614.1:c.1516+1485G>A, rs35112095, NC_000021.9:g.42569923G>A, NM_018964.3:c.1423+1485G>A, XM_005261139.1:c.1423+1485G>A, XM_005261140.1:c.1423+1485G>A, XM_005261142.1:c.1024+1485G>A, NC_000021.8:g.43990033=, NG_033931.1:g.75292G>A, NG_033931.1:g.75292=, 35112095, NC_000021.9:g.42569923=, XM_005261141.1:c.1423+1485G>A, XM_011529615.1:c.1516+1485G>A +PA166161442 rs35112940 PA26210 CD33 NC_000019.10:51235662 1 1 0 0 0 35112940, NC_000019.9:g.51738917=, rs35112940, NC_000019.10:g.51235662=, NC_000019.10:g.51235662G>A, NC_000019.9:g.51738917G>A, NP_001763.3:p.Gly304=, NP_001763.3:p.Gly304Arg +PA166179575 rs35123024 NC_000003.12:98140850 1 1 0 0 0 NC_000003.12:g.98140850=, NC_000003.12:g.98140850T>C, NC_000003.11:g.97859694=, NC_000003.11:g.97859694T>C, rs35123024, 35123024 +PA166157201 rs35167514 PA329 SLC22A1 NC_000006.12:160139849 2 1 0 0 0 XM_005267105.1:c.682delA, NC_000006.11:g.160560881=, 45542538, NP_003048.1:p.Met420=, NC_000006.11:g.160560881delA, XM_005267103.1:c.1258delA, XM_005267104.3:c.682delA, XM_005267102.3:c.1258delA, XM_005267102.1:c.1258delA, XM_005267105.3:c.682delA, XP_005267162.1:p.Met228Terfs, XP_005267160.1:p.Met420Terfs, NC_000006.11:g.160560881del, NP_003048.1:p.Met420Terfs, XM_011536074.1:c.682delA, XM_005267104.1:c.682delA, rs35167514, NM_153187.1:c.1258delA, NC_000006.12:g.160139849del, XP_006715615.1:p.Met420Terfs, XM_006715552.1:c.1258delA, XP_005267161.1:p.Met228Terfs, NC_000006.12:g.160139849delA, XP_005267159.1:p.Met420Terfs, NP_694857.1:p.Met420Terfs, rs45542538, NC_000006.12:g.160139849=, NM_003057.2:c.1258delA, XP_011534376.1:p.Met228Terfs, 35167514, NP_003048.1:p.Val419_Met420insTer +PA166218661 rs351776 PA33485 PNOC NC_000008.11:28333789 1 2 0 0 0 NC_000008.11:g.28333789A>T, NC_000008.10:g.28191306=, NC_000008.11:g.28333789A>C, 59494435, rs351776, 9650429, 2645718, NC_000008.11:g.28333789=, NC_000008.10:g.28191306A>T, NC_000008.10:g.28191306A>C, 351776, 17506940 +PA166156731 rs351855 PA28130 FGFR4 NC_000005.10:177093242 4 2 0 0 0 XM_005265838.2:c.1162G>A, NM_002011.4:c.1162G>A, XP_011532767.1:p.Gly282Arg, rs117475361, NP_998812.1:p.Gly388Arg, rs351855, NC_000005.9:g.176520243G>A, NP_002002.3:p.Gly388Arg, XR_941090.1:n.1207G>A, XM_005265839.1:c.1097+65G>A, XM_011534465.1:c.844G>A, XM_005265837.1:c.1258G>A, XP_005265895.1:p.Gly388Arg, NG_012067.1:g.11323=, 351855, NG_012067.1:g.11323G>A, XM_005265838.1:c.1162G>A, rs56695235, NM_213647.2:c.1162G>A, XP_011532766.1:p.Gly419Arg, NC_000005.9:g.176520243=, NM_022963.3:c.1058-90G>A, XM_011534464.1:c.1255G>A, 56695235, NC_000005.10:g.177093242=, 117475361, NC_000005.10:g.177093242G>A, NM_001291980.1:c.1097+65G>A, XP_005265894.1:p.Gly420Arg, NP_002002.3:p.Gly388= +PA166154472 rs35199625 PA35845 SLCO2B1 NC_000011.10:75169325 2 0 0 0 0 NP_009187.1:p.Val201Met, NC_000011.10:g.75169325G>A, NM_001145211.2:c.535G>A, NP_001138684.1:p.Val57Met, rs61235278, NC_000011.9:g.74880370=, NG_027921.1:g.23339G>A, NP_009187.1:p.Val201=, NC_000011.9:g.74880370G>A, NM_001145212.2:c.169G>A, 35199625, XM_005273732.1:c.253G>A, XP_005273789.1:p.Val85Met, 61235278, NP_001138683.1:p.Val179Met, rs35199625, NG_027921.1:g.23339=, NM_007256.4:c.601G>A, NC_000011.10:g.75169325= +PA166156487 rs352046 PA35573 CXCL5 NC_000004.12:73998833 2 1 0 0 0 NC_000004.12:g.73998833G>A, NM_002994.4:c.-252C>G, XR_938874.1:n.61G>C, 352046, 57250141, NC_000004.11:g.74864550G>A, 353017, NC_000004.11:g.74864550G>C, NC_000004.12:g.73998833G>T, NC_000004.11:g.74864550=, NC_000004.12:g.73998833=, rs353017, rs3854134, NC_000004.11:g.74864550G>T, rs57250141, 3854134, rs352046, NC_000004.12:g.73998833G>C +PA166156288 rs352139 PA38010 TLR9 NC_000003.12:52224356 4 2 0 0 0 rs3854116, NC_000003.12:g.52224356T>G, 3854116, NG_033933.1:g.6808A>C, NC_000003.12:g.52224356=, 352139, NG_033933.1:g.6808=, NM_017442.3:c.4-44A>G, NC_000003.11:g.52258372=, NG_033933.1:g.6808A>T, rs352139, rs3733065, 3733065, NC_000003.11:g.52258372T>C, NC_000003.11:g.52258372T>A, NC_000003.12:g.52224356T>A, NC_000003.11:g.52258372T>G, NC_000003.12:g.52224356T>C, NG_033933.1:g.6808A>G +PA166157546 rs352428 PA27930 EXTL3 NC_000008.11:28621375 2 1 0 0 0 NC_000008.11:g.28621375A>G, 352428, XR_949615.1:n.364A>G, XR_949617.1:n.-1374A>G, 111187477, rs56517430, NC_000008.10:g.28478892=, rs57272508, NC_000008.10:g.28478892A>C, NC_000008.10:g.28478892A>G, rs111187477, NC_000008.11:g.28621375A>T, 17296851, rs352428, 57272508, NC_000008.11:g.28621375=, 56517430, NC_000008.11:g.28621375A>C, NC_000008.10:g.28478892A>T, rs17296851 +PA166306581 rs35283911 NC_000016.10:72045091 2 0 0 0 0 NC_000016.10:g.72045091=, rs35283911, NC_000016.9:g.72078990del, 35283911, NC_000016.10:g.72045091del, NC_000016.9:g.72078990= +PA166159069 rs352887 PA30258 KYNU NC_000002.12:143002815 1 0 0 0 0 NC_000002.11:g.143760384=, NC_000002.12:g.143002815=, NG_023254.1:g.130190A>C, NC_000002.12:g.143002815A>C, NG_023254.1:g.130190A>G, NC_000002.12:g.143002815A>G, NC_000002.11:g.143760384A>T, 352887, 57620852, NC_000002.11:g.143760384A>C, NG_023254.1:g.130190=, rs352887, NG_023254.1:g.130190A>T, NC_000002.12:g.143002815A>T, 13021535, 74270525, NC_000002.11:g.143760384A>G +PA166155496 rs35303484 PA123 CYP2B6 NC_000019.10:40991441 8 1 0 0 0 XM_006723050.2:c.136A>G, XP_005258627.1:p.Met46Val, XP_005258626.1:p.Met46Val, XM_011526548.1:c.136A>G, NC_000019.9:g.41497346=, XM_005258570.1:c.136A>G, 35303484, XM_011526547.1:c.136A>G, NC_000019.9:g.41497346A>G, NC_000019.10:g.40991441=, rs35303484, NG_007929.1:g.5143A>T, NP_000758.1:p.Met46Leu, NC_000019.10:g.40991441A>G, XM_011526546.1:c.136A>G, XM_005258569.1:c.136A>G, NG_007929.1:g.5143A>G, XP_011524848.1:p.Met46Val, NP_000758.1:p.Met46=, NM_000767.4:c.136A>G, XP_011524850.1:p.Met46Val, NC_000019.10:g.40991441A>T, NC_000019.9:g.41497346A>T, NG_007929.1:g.5143=, NP_000758.1:p.Met46Val, XM_005258569.3:c.136A>G, XP_006723113.1:p.Met46Val, XP_011524849.1:p.Met46Val +PA166178735 rs35305980 PA134961529 OR2B11 NC_000001.11:247451961 1 0 0 0 0 rs35305980, 145122346, 60957487, NP_001004492.1:p.Phe8=, 374819430, NC_000001.10:g.247615263del, NP_001004492.1:p.Phe8fs, NC_000001.11:g.247451960_247451961=, 371601092, 74468375, 35305980, NC_000001.10:g.247615262_247615263=, NC_000001.11:g.247451961del +PA166156166 rs35320474 PA24584,PA165378332 ADORA2A,ADORA2A-AS1 1 0 0 0 0 NM_001278500.1:c.*453_*454insT, NC_000022.10:g.24837910_24837911insT, NM_001278497.1:c.*453_*454insT, NR_028484.2:n.833+49_833+50insA, NR_103544.1:n.1525_1526insT, 35320474, NC_000022.11:g.24441942_24441943insT, NM_000675.5:c.*453_*454insT, rs71670083, rs72591415, NM_001278498.1:c.*453_*454insT, rs35320474, rs148958872, NR_103546.1:n.5871_5872insT, NR_103543.1:n.1545_1546insT, NM_001278499.1:c.*453_*454insT, rs60657755, NR_028483.2:n.1270+49_1270+50insA, rs72559617 +PA166155870 rs35350960 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233760973 6 2 1 0 0 NM_019078.1:c.868-6061C>A, 113132151, NM_021027.2:c.856-6061C>A, rs113132151, NP_000454.1:p.Pro229=, NM_000463.2:c.686C>A, NM_019077.2:c.856-6061C>A, rs35350960, 35350960, 58748723, NC_000002.11:g.234669619C>T, NM_019093.2:c.868-6061C>A, XR_241239.1:n.708C>A, NG_033238.1:g.5701C>A, NC_000002.12:g.233760973C>T, NG_033238.1:g.5701=, NP_000454.1:p.Pro229Leu, 45627238, NG_002601.2:g.176230C>T, NM_001072.3:c.862-6061C>A, NC_000002.11:g.234669619C>A, NM_007120.2:c.868-6061C>A, NG_002601.2:g.176230C>A, NP_000454.1:p.Pro229Gln, NG_033238.1:g.5701C>T, rs45627238, NC_000002.11:g.234669619=, NM_205862.1:c.61-6061C>A, NM_019075.2:c.856-6061C>A, XR_241241.1:n.942-6061C>A, NC_000002.12:g.233760973=, NM_019076.4:c.856-6061C>A, XR_241238.1:n.924-6061C>A, XR_241240.1:n.1023-6061C>A, NC_000002.12:g.233760973C>A, NG_002601.2:g.176230=, rs58748723 +PA166153878 rs35397194 PA143485536 MIA3 NC_000001.11:222617179 1 0 0 0 0 rs35397194, NC_000001.10:g.222790521=, NM_198551.3:c.-932A>G, NC_000001.11:g.222617179=, 35397194, NC_000001.11:g.222617179A>G, XM_005273121.3:c.-932A>G, XM_005273121.1:c.-932A>G, XM_011509513.1:c.-932A>G, NC_000001.10:g.222790521A>G, XM_006711304.2:c.-932A>G +PA166182904 rs35410204 NC_000006.12:43803740 1 0 0 0 0 NC_000006.12:g.43803740=, NC_000006.11:g.43771477=, rs35410204, 35410204, NC_000006.11:g.43771477T>C, NC_000006.12:g.43803740T>C +PA166176810 rs35511654 PA24589,PA166123749 ADORA3,TMIGD3 NC_000001.11:111500165 1 0 0 0 0 NP_000668.1:p.Ile248Leu, rs35511654, 35511654, NC_000001.10:g.112042787=, NC_000001.10:g.112042787T>G, NG_032119.1:g.68811=, NC_000001.11:g.111500165=, 62617132, NC_000001.11:g.111500165T>G, NP_000668.1:p.Ile248=, NG_032119.1:g.68811A>C +PA166181813 rs35514893 NC_000006.12:15909294 1 0 0 0 0 NC_000006.11:g.15909525=, NC_000006.11:g.15909525C>G, NC_000006.11:g.15909525C>T, NC_000006.12:g.15909294C>T, NC_000006.12:g.15909294C>G, NC_000006.11:g.15909525C>A, NC_000006.12:g.15909294C>A, rs35514893, 57088493, 35514893, NC_000006.12:g.15909294= +PA166365261 rs35516286 PA109 CFTR NC_000007.14:117531068 1 1 0 0 1 CFTR p.Ile148Asn, NP_000483.3:p.Ile148Asn, NC_000007.14:g.117531068T>C, NP_000483.3:p.Ile148Thr, NC_000007.14:g.117531068T>A, rs35516286, NC_000007.13:g.117171122=, NG_016465.4:g.70285T>C, NG_016465.4:g.70285T>A, NP_000483.3:p.Ile148=, NG_016465.4:g.70285=, 35516286, NC_000007.14:g.117531068=, NC_000007.13:g.117171122T>C, NC_000007.13:g.117171122T>A +PA166155129 rs35529209 PA244 ABCC1 NC_000016.10:16111468 1 0 0 0 0 NP_004987.2:p.Ala989Pro, XP_005255385.1:p.Ala943Thr, XM_005255329.1:c.2788G>A, XM_011522497.1:c.2941G>A, XP_011520799.1:p.Ala981Thr, NT_187607.1:g.1769332G>A, NG_028268.1:g.166892=, NC_000016.9:g.16205325G>A, rs45620940, NG_028268.1:g.166892G>A, XP_011520800.1:p.Ala958Thr, NC_000016.10:g.16111468G>C, NG_028268.2:g.166892G>C, NC_000016.10:g.16111468G>A, NG_028268.1:g.166892G>C, NG_028268.2:g.166892G>A, rs35529209, 45620940, XP_005255386.1:p.Ala930Thr, NC_000016.9:g.16205325G>C, NP_004987.2:p.Ala989Thr, XM_005255327.1:c.2839G>A, XP_005255383.1:p.Ala999Thr, 35529209, NG_028268.2:g.166892=, NP_004987.2:p.Ala989=, XM_011522498.1:c.2872G>A, NM_004996.3:c.2965G>A, XM_005255326.1:c.2995G>A, NC_000016.9:g.16205325=, XP_005255384.1:p.Ala947Thr, NC_000016.10:g.16111468=, XM_005255328.1:c.2827G>A +PA166170186 rs35575889 PA24679 AKR1C3 NC_000010.11:5099387 1 0 0 0 0 rs35575889, NP_003730.4:p.Arg170Cys, NG_047094.1:g.55622C>T, NC_000010.11:g.5099387=, NC_000010.10:g.5141579C>T, NP_003730.4:p.Arg170=, NC_000010.11:g.5099387C>T, NC_000010.10:g.5141579=, NC_000010.11:g.5099387C>G, NG_047094.1:g.55622=, NP_003730.4:p.Arg170Gly, 35575889, NC_000010.10:g.5141579C>G, NG_047094.1:g.55622C>G +PA166154982 rs35592 PA244 ABCC1 NC_000016.10:16047966 4 1 0 0 0 rs35592, NG_028268.2:g.103390=, NT_187607.1:g.1705863T>C, NG_028268.2:g.103390T>C, NM_004996.3:c.1219-176T>C, NG_028268.1:g.103390=, NC_000016.9:g.16141823=, 35592, NG_028268.1:g.103390T>C, XM_005255327.1:c.1093-176T>C, XM_011522498.1:c.1273-176T>C, rs666803, XM_005255328.1:c.1081-176T>C, XM_005255329.1:c.1219-176T>C, XM_011522497.1:c.1195-176T>C, NC_000016.10:g.16047966=, XM_005255326.1:c.1219-176T>C, NC_000016.10:g.16047966T>C, 1173294, 666803, NC_000016.9:g.16141823T>C, rs1173294 +PA166154983 rs35596 PA244 ABCC1 NC_000016.10:16059083 1 0 0 0 0 XM_005255326.1:c.1677+2788T>C, NG_028268.2:g.114507T>C, rs426546, XM_011522497.1:c.1653+2788C>T, XM_011522497.1:c.1653+2788T>C, NC_000016.10:g.16059083T=, NG_028268.1:g.114507T>C, NG_028268.2:g.114507=, NT_187607.1:g.1716974C=, 35596, NC_000016.10:g.16059083T>C, XM_005255327.1:c.1551+2788T>C, rs35596, 60012681, XM_005255329.1:c.1677+2788T>C, NM_004996.3:c.1677+2788C>T, NM_004996.3:c.1677+2788T>C, rs559627, 426546, XM_005255328.1:c.1539+2788T>C, NC_000016.9:g.16152940=, XM_011522498.1:c.1731+2788C>T, XM_011522498.1:c.1731+2788T>C, NG_028268.1:g.114507T=, 559627, NC_000016.9:g.16152940T>C, rs60012681, NG_028268.1:g.114507=, NT_187607.1:g.1716974C>T, NC_000016.10:g.16059083= +PA166156682 rs35597368 PA33147 PDGFRA NC_000004.12:54273604 4 0 0 0 0 XP_006714102.1:p.Ser503Pro, rs35597368, rs62619886, NP_006197.1:p.Ser478=, XM_005265743.1:c.1432T>C, XM_005265744.1:c.1432T>C, 35597368, XP_005265800.1:p.Ser478Pro, XM_006714039.2:c.1507T>C, XP_011532688.1:p.Ser478Pro, NC_000004.12:g.54273604=, NC_000004.11:g.55139771T>C, XM_011534385.1:c.1432T>C, NM_006206.4:c.1432T>C, NP_006197.1:p.Ser478Pro, NC_000004.11:g.55139771=, XM_011534386.1:c.1432T>C, NG_009250.1:g.49508=, NC_000004.12:g.54273604T>C, XP_006714104.1:p.Ser503Pro, XP_011532687.1:p.Ser478Pro, NG_009250.1:g.49508T>C, XM_006714041.2:c.1507T>C, 62619886, XP_005265801.1:p.Ser478Pro +PA166157487 rs35599367 PA130 CYP3A4 NC_000007.14:99768693 172 21 16 0 0 rs35599367, rs45581939, rs62471940, NM_017460.5:c.522-191C>T, NC_000007.13:g.99366316=, XM_011515841.1:c.522-191C>T, NC_000007.14:g.99768693G>A, XM_011515842.1:c.522-191C>T, 62471940, NC_000007.14:g.99768693=, NG_008421.1:g.20493=, 35599367, NC_000007.13:g.99366316G>A, NG_008421.1:g.20493C>T, 45581939, NM_001202855.2:c.522-191C>T +PA166161543 rs35621 PA244 ABCC1 NC_000016.10:16074751 1 1 0 0 0 56580821, NC_000016.10:g.16074751C>T, NG_028268.2:g.130175=, NC_000016.10:g.16074751=, NG_028268.1:g.130175C>G, NC_000016.9:g.16168608C>T, NG_028268.2:g.130175C>G, NC_000016.9:g.16168608=, NG_028268.2:g.130175C>T, NG_028268.1:g.130175C>T, NC_000016.9:g.16168608C>G, 35621, 17841259, NC_000016.10:g.16074751C>G, 507314, 59744889, rs35621, NG_028268.1:g.130175= +PA166162353 rs35626 PA244 ABCC1 NC_000016.10:16076758 1 0 0 0 0 NC_000016.10:g.16076758=, NC_000016.9:g.16170615G>T, NG_028268.1:g.132182G>T, NG_028268.2:g.132182G>T, 587779728, NC_000016.10:g.16076758G>T, NC_000016.9:g.16170615=, NG_028268.1:g.132182=, NG_028268.2:g.132182=, 59255461, rs35626, 435840, 523181, 57090362, 35626 +PA166176238 rs35650931 PA166176239 MIR6076 NC_000014.9:49966509 1 0 0 0 0 NC_000014.8:g.50433227G>C, NC_000014.9:g.49966509=, 35650931, rs35650931, NC_000014.9:g.49966509G>C, NC_000014.8:g.50433227= +PA166179658 rs35661809 NC_000005.10:12968229 1 0 0 0 0 NC_000005.10:g.12968229A>G, NC_000005.9:g.12968341A>G, 35661809, 116009632, NC_000005.9:g.12968341=, rs35661809, NC_000005.10:g.12968229= +PA166153879 rs35684750 PA162376104 AIDA NC_000001.11:222709060 1 0 0 0 0 NM_022831.2:c.110+3148T>G, NC_000001.10:g.222882402A>C, XR_247034.1:n.524+3148T>G, NC_000001.11:g.222709060A>C, NC_000001.10:g.222882402=, rs35684750, XR_921909.1:n.694+3148T>G, 35684750, NC_000001.11:g.222709060=, XM_005273232.1:c.38+3684T>G +PA166153880 rs35687416 PA162382539 CMPK1 NC_000001.11:47368537 1 1 0 0 0 NR_046394.1:n.389G>T, NC_000001.11:g.47368537G>T, NP_057392.1:p.Gln80His, NC_000001.10:g.47834209G>T, NC_000001.11:g.47368537=, rs35687416, NM_001136140.1:c.172-4418G>T, NM_016308.2:c.240G>T, 35687416, NP_057392.1:p.Gln80=, NC_000001.10:g.47834209= +PA166154944 rs35694136 PA27093 CYP1A2 NC_000015.10:74747272 9 0 0 0 0 NC_000015.10:g.74747272delT, rs374281455, 35694136, NC_000015.10:g.74747272=, 59598989, NG_008431.2:g.29731del, NG_061543.1:g.3428del, NC_000015.9:g.75039613=, NG_008431.1:g.29731delT, NG_055245.1:g.2942=, rs59598989, NG_008431.2:g.29731=, 145540372, NC_000015.9:g.75039613delT, NM_000761.4:c.-1635delT, NG_055245.1:g.2942del, NM_000761.4:c.-1635del, rs145540372, NC_000015.9:g.75039613del, 374281455, NG_061543.1:g.3428=, NC_000015.10:g.74747272del, rs35694136 +PA166154473 rs35705950 PA31321 MUC5B NC_000011.10:1219991 1 0 0 0 0 NC_000011.10:g.1219991G>T, 35705950, NG_031880.1:g.1927G>T, NC_000011.10:g.1219991G>A, NC_000011.9:g.1241221=, NC_000011.9:g.1241221G>A, NG_031880.1:g.1927G>A, rs35705950, NG_031880.1:g.1927=, NC_000011.9:g.1241221G>T, NC_000011.10:g.1219991= +PA166156167 rs35742686 PA128 CYP2D6 NC_000022.11:42128242 182 51 51 0 0 NW_004504305.1:g.50569delT, XP_011528274.1:p.Arg259Glyfs, rs35742686, NC_000022.10:g.42524244del, XM_011547750.1:c.631delA, XP_011546053.1:p.Arg187Glyfs, NG_008376.3:g.6750del, XM_005278354.1:c.475delA, NP_000097.3:p.Arg259Glyfs, 60790764, XP_005278410.1:p.Arg211Glyfs, XP_011528272.1:p.Arg208Glyfs, XP_011545843.1:p.Arg159Glyfs, XP_011528269.1:p.Arg259Glyfs, XR_430455.2:n.-1629delT, NC_000022.11:g.42128242=, XM_011547756.1:c.-1793delT, NM_001025161.2:c.622delA, XP_011528273.1:p.Arg211Glyfs, 45593132, NG_008376.3:g.6750delA, XM_005278354.3:c.475delA, NM_000106.5:c.775delA, NG_008376.4:g.7569del, XR_952745.1:n.1932delA, XM_011529971.1:c.631delA, XM_011529967.1:c.775delA, XM_011529968.1:c.775delA, NP_000097.3:p.Arg259=, XP_011528271.1:p.Arg211Glyfs, XM_011529966.1:c.775delA, NC_000022.10:g.42524244=, XM_011547541.1:c.475delA, XM_005278353.1:c.631delA, XP_011528268.1:p.Arg259Glyfs, rs60790764, 35742686, NT_187682.1:g.50583delT, XP_011547121.1:p.Arg159Glyfs, NC_000022.10:g.42524244delT, NW_009646208.1:g.13808delT, XP_011528270.1:p.Arg259Glyfs, XP_011546052.1:p.Arg211Glyfs, XM_011548819.1:c.475delA, NC_000022.11:g.42128242del, rs45593132, NP_001020332.2:p.Arg208Glyfs, NG_008376.4:g.7569=, NC_000022.11:g.42128242delT, XM_011529969.1:c.631delA, NP_000097.3:p.Arg259fs, XM_011547751.1:c.559delA, XP_005278411.1:p.Arg159Glyfs, NG_008376.3:g.6750=, XM_011529970.1:c.622delA, XM_011529972.1:c.775delA +PA166153881 rs35762933 PA162376104,PA142672509 AIDA,BROX NC_000001.11:222714565 1 0 0 0 0 XR_921909.1:n.-1664G>A, rs35762933, XM_005273068.1:c.-16-1119C>T, NM_001288581.1:c.-16-1119C>T, NC_000001.11:g.222714565C>T, XM_011509214.1:c.-721C>T, XR_247034.1:n.-1834G>A, XM_011509213.1:c.143+1149C>T, NC_000001.10:g.222887907C>G, 35762933, NC_000001.10:g.222887907C>T, XM_005273232.1:c.-1784G>A, NC_000001.11:g.222714565=, XM_005273069.3:c.-65+1623C>T, NM_001288580.1:c.-16-1119C>T, NM_001288579.1:c.-16-1119C>T, NC_000001.11:g.222714565C>G, XM_005273067.1:c.144-1119C>T, XM_005273065.2:c.-16-1119C>T, NM_144695.3:c.-16-1119C>T, XM_005273069.1:c.-65+1623C>T, XM_005273065.1:c.144-1119C>T, XM_006711173.2:c.35+898C>T, XM_011509212.1:c.144-1119C>T, NC_000001.10:g.222887907=, XM_005273066.1:c.144-1119C>T, XM_011509215.1:c.-16-1119C>T +PA166153945 rs35793 PA220 KCNMA1 NC_000010.11:77423280 1 0 0 0 0 XM_011539777.1:c.379-19257G>C, XM_011539785.1:c.379-19257G>C, XM_005269776.2:c.379-19257G>C, 35793, NM_001271518.1:c.379-172024G>C, XM_005269800.1:c.379-19257G>C, XR_946085.1:n.64+183C>G, XM_005269780.1:c.379-19257G>C, XM_005269799.1:c.379-19257G>C, XM_005269797.1:c.379-19257G>C, XR_946081.1:n.64+183C>G, 16934746, XM_005269773.1:c.379-19257G>C, XM_005269789.1:c.379-19257G>C, XM_005269790.1:c.379-19257G>C, NC_000010.10:g.79183038=, NG_012270.1:g.219540G>T, XM_005269781.1:c.379-19257G>C, XM_011539778.1:c.379-19257G>C, XM_011539779.1:c.511-19257G>C, XM_005269774.1:c.379-19257G>C, XM_005269779.1:c.379-19257G>C, XM_011539774.1:c.511-19257G>C, XM_005269782.1:c.379-19257G>C, XM_005269787.2:c.379-19257G>C, XM_005269795.1:c.379-19257G>C, NC_000010.11:g.77423280=, XM_005269792.1:c.379-19257G>C, XM_005269801.1:c.379-19257G>C, XM_011539784.1:c.511-19257G>C, XM_005269787.1:c.379-19257G>C, XM_011539776.1:c.511-19257G>C, XM_006717826.1:c.379-19257G>C, XM_005269785.1:c.379-19257G>C, rs16934746, XM_011539780.1:c.379-19257G>C, XM_005269777.1:c.379-19257G>C, NM_001014797.2:c.379-19257G>C, XM_005269793.1:c.379-19257G>C, NM_001161353.1:c.379-19257G>C, XM_005269786.1:c.379-19257G>C, XM_011539781.1:c.511-19257G>C, XM_005269784.1:c.379-19257G>C, XM_011539773.1:c.511-19257G>C, XR_946079.1:n.64+183C>G, NC_000010.10:g.79183038C>A, NM_001161352.1:c.379-19257G>C, XM_005269776.1:c.379-19257G>C, XM_005269794.1:c.379-19257G>C, XM_011539782.1:c.511-19257G>C, NM_001271519.1:c.379-19257G>C, XM_005269802.1:c.379-19257G>C, XM_005269791.1:c.379-19257G>C, NG_012270.1:g.219540=, NG_012270.1:g.219540G>C, rs35793, XM_011539783.1:c.379-19257G>C, NC_000010.10:g.79183038C>G, XM_005269775.1:c.379-19257G>C, XM_005269788.1:c.379-19257G>C, XM_011539775.1:c.511-19257G>C, XR_946084.1:n.38+259C>G, NM_002247.3:c.379-19257G>C, XM_005269778.1:c.379-19257G>C, NC_000010.11:g.77423280C>A, XR_946080.1:n.64+183C>G, NC_000010.11:g.77423280C>G, XM_005269798.1:c.379-172024G>C, XM_005269796.1:c.379-19257G>C, XR_946083.1:n.75+165C>G, XM_005269783.1:c.379-19257G>C, XR_946082.1:n.65+183C>G +PA166155871 rs35806662 PA134866434 UPP2 NC_000002.12:157933913 1 0 0 0 0 NC_000002.12:g.157933913A>G, NC_000002.11:g.158790425A>G, rs35806662, XM_005246358.1:c.-97-54235A>G, rs59859167, 35806662, NC_000002.12:g.157933913=, NC_000002.11:g.158790425=, 59859167 +PA166153882 rs35822937 PA143485536 MIA3 NC_000001.11:222658668 1 0 0 0 0 XM_005273121.3:c.4608-54A>G, XM_011509513.1:c.*692A>G, rs35822937, XM_006711304.2:c.4431-54A>G, 35822937, NC_000001.10:g.222832010A>G, NC_000001.11:g.222658668=, XM_005273122.1:c.1242-54A>G, NM_001300867.1:c.1242-54A>G, NC_000001.10:g.222832010=, NC_000001.11:g.222658668A>G, XM_005273121.1:c.4608-54A>G, NM_198551.3:c.4608-54A>G +PA166156683 rs35859249 PA36342 TBC1D1 NC_000004.12:37902468 1 0 0 0 0 NP_055988.2:p.Arg125Trp, XM_005262648.1:c.373C>T, XP_005262707.1:p.Arg125Trp, XM_011513665.1:c.373C>T, XP_011511964.1:p.Arg125Trp, XM_011513668.1:c.373C>T, NC_000004.11:g.37904089C>T, XM_011513661.1:c.373C>T, NP_001240841.1:p.Arg125Trp, XP_011511966.1:p.Arg125Trp, NC_000004.12:g.37902468=, NC_000004.12:g.37902468C>A, XM_011513659.1:c.373C>T, 61752237, NC_000004.12:g.37902468C>T, XM_005262647.1:c.373C>T, XM_005262650.1:c.373C>T, XP_005262704.1:p.Arg125Trp, XP_011511970.1:p.Arg125Trp, XP_011511969.1:p.Arg125Trp, NP_055988.2:p.Arg125=, XM_011513666.1:c.373C>T, XM_011513662.1:c.373C>T, NM_001253912.1:c.373C>T, XP_011511962.1:p.Arg125Trp, rs61752237, XP_011511965.1:p.Arg125Trp, XM_005262646.1:c.373C>T, NM_015173.3:c.373C>T, 35859249, XM_011513667.1:c.373C>T, XP_005262703.1:p.Arg125Trp, NC_000004.11:g.37904089=, NC_000004.11:g.37904089C>A, XM_011513663.1:c.373C>T, XP_011511967.1:p.Arg125Trp, XM_011513664.1:c.373C>T, XP_005262705.1:p.Arg125Trp, rs35859249, XP_011511968.1:p.Arg125Trp, XP_011511963.1:p.Arg125Trp, XP_011511961.1:p.Arg125Trp, XM_011513660.1:c.373C>T +PA166157202 rs35864111 PA37302 VEGFA NC_000006.12:43768805 1 1 0 0 0 NM_001171630.1:c.-2447_-2446insG, NM_001171627.1:c.-2447_-2446insG, rs369394745, 369394745, NM_001025370.2:c.-1907_-1906insG, NM_001171624.1:c.-2447_-2446insG, 36208053, NM_001171629.1:c.-2447_-2446insG, NC_000006.11:g.43736537_43736538insG, NM_001025368.2:c.-1907_-1906insG, rs36208053, 372156176, NC_000006.12:g.43768800_43768801insG, rs372156176, 35864111, NM_001171626.1:c.-2447_-2446insG, NM_001204385.1:c.-1907_-1906insG, NM_001171623.1:c.-2447_-2446insG, NG_008732.1:g.3586_3589=, NM_001025366.2:c.-1907_-1906insG, NC_000006.12:g.43768801_43768804=, NM_003376.5:c.-1907_-1906insG, rs35864111, NM_001025369.2:c.-1907_-1906insG, NM_001204384.1:c.-2447_-2446insG, NM_001171628.1:c.-2447_-2446insG, NC_000006.11:g.43736538_43736541=, NG_008732.1:g.3589dup, NC_000006.12:g.43768804dup, NG_008732.1:g.3585_3586insG, NM_001171625.1:c.-2447_-2446insG, 144735486, NM_001317010.1:c.-2447_-2446insG, rs144735486, NM_001025367.2:c.-1907_-1906insG, NM_001033756.2:c.-1907_-1906insG, NC_000006.11:g.43736541dup, NM_001171622.1:c.-1907_-1906insG +PA166267601 rs35930845 NC_000019.10:41025692 1 0 0 0 0 NC_000019.10:g.41025692=, NC_000019.9:g.41531597=, 72480751, rs35930845, NC_000019.9:g.41531597C>G, NG_029327.2:g.2672=, NC_000019.9:g.41531597C>T, NC_000019.10:g.41025692C>T, NG_029327.2:g.2672G>A, 35930845, NG_029327.2:g.2672G>C, NC_000019.10:g.41025692C>G +PA166156684 rs35932500 PA138 DCTD NC_000004.12:182914995 1 0 0 0 0 XM_011531677.1:c.67+466A>G, NC_000004.11:g.183836148T>C, XM_005262779.2:c.172A>G, XM_005262782.2:c.67+466A>G, NC_000004.12:g.182914995T>C, NP_001912.2:p.Asn58Asp, NC_000004.12:g.182914995=, XM_006714116.2:c.67+466A>G, XM_011531675.1:c.67+466A>G, XM_005262782.1:c.67+466A>G, 35932500, NM_001012732.1:c.205A>G, NP_001012750.1:p.Asn69Asp, NC_000004.11:g.183836148=, XM_005262780.1:c.172A>G, XM_005262780.2:c.172A>G, XM_005262781.3:c.67+466A>G, rs35932500, XP_011529976.1:p.Asn58Asp, XM_011531674.1:c.172A>G, XP_005262837.1:p.Asn58Asp, NM_001921.2:c.172A>G, XP_005262836.1:p.Asn58Asp, XM_005262778.1:c.205A>G, XP_005262835.1:p.Asn69Asp, XM_005262781.1:c.67+466A>G, XM_011531676.1:c.67+466A>G, XM_005262778.2:c.205A>G, XM_005262779.1:c.172A>G, XM_006714115.2:c.67+466A>G, NP_001912.2:p.Asn58= +PA166157541 rs3594 PA29014 GSR NC_000008.11:30678143 1 1 0 0 0 NC_000008.10:g.30535660=, 33998436, NC_000008.11:g.30678143=, 17556374, 56766895, 3594, rs3594, NG_027719.1:g.54827G>T, NM_001195102.1:c.*1377G>T, rs33998436, NC_000008.10:g.30535660C>A, rs3174044, 3174044, NG_027719.1:g.54827=, NM_001195104.1:c.*1377G>T, NC_000008.11:g.30678143C>A, rs56766895, NM_000637.3:c.*1377G>T, NM_001195103.1:c.*1377G>T, rs17556374 +PA166165163 rs35945601 PA134887898 SPAG16 NC_000002.12:214246447 1 0 0 0 0 NC_000002.11:g.215111171=, NC_000002.11:g.215111171T>C, 62196178, NC_000002.12:g.214246447T>C, rs35945601, NC_000002.12:g.214246447=, 35945601 +PA166155500 rs35979566 PA123 CYP2B6 NC_000019.10:41012693 1 0 0 0 0 XM_005258570.1:c.1152+208T>A, rs35979566, XM_005258569.1:c.1152+208T>A, XP_006723113.1:p.Ile391Asn, XM_005258571.1:c.572T>A, XP_011524852.1:p.Ile191Asn, NC_000019.10:g.41012693=, NP_000758.1:p.Ile391Asn, XM_011526549.1:c.581T>A, XM_006723050.2:c.1172T>A, XM_005258569.3:c.1152+208T>A, XP_011524851.1:p.Ile194Asn, XP_005258628.1:p.Ile191Asn, NG_007929.1:g.26395=, XM_011526547.1:c.1152+208T>A, rs57682077, NG_007929.1:g.26395T>A, NM_000767.4:c.1172T>A, NC_000019.10:g.41012693T>A, 57682077, NP_000758.1:p.Ile391=, NC_000019.9:g.41518598T>A, XP_011524850.1:p.Ile231Asn, 35979566, NC_000019.9:g.41518598=, XM_011526550.1:c.572T>A, XM_011526546.1:c.1153-123T>A, XM_011526548.1:c.692T>A +PA166206581 rs36024412 PA24650 CRYBG2 NC_000001.11:26343953 1 1 0 0 0 NC_000001.11:g.26343953=, NC_000001.11:g.26343953G>T, NP_001034864.2:p.Ser902=, NC_000001.10:g.26670444G>T, NP_001034864.2:p.Ser902Tyr, rs36024412, 36024412, NC_000001.10:g.26670444= +PA166176143 rs36029 PA310 SLC6A2 NC_000016.10:55662844 1 1 0 0 0 NG_016969.1:g.12215=, 36029, NG_016969.1:g.12215A>G, NC_000016.10:g.55662844=, rs36029, NC_000016.10:g.55662844A>G, NC_000016.9:g.55696756A>G, NC_000016.9:g.55696756=, 60064692 +PA166157203 rs36056065 PA329 SLC22A1 1 1 0 0 0 NM_153187.1:c.1276+9_1276+16delGTAAGTTG, XM_011536074.1:c.700+9_700+16del, XM_005267104.1:c.700+9_700+16delGTAAGTTG, XM_005267105.3:c.700+9_700+16del, rs35854239 (retired), NM_003057.2:c.1276+9_1276+16del, rs36056065, rs113569197 (retired), XM_005267104.3:c.700+9_700+16del, NC_000006.11:g.160560908_160560915delGTAAGTTG, XM_006715552.1:c.1276+9_1276+16del, NC_000006.12:g.160139876_160139883delGTAAGTTG, XM_005267102.1:c.1276+9_1276+16delGTAAGTTG, XM_005267105.1:c.700+9_700+16delGTAAGTTG, 36056065, NM_153187.1:c.1276+9_1276+16del, XM_005267103.1:c.1276+9_1276+16delGTAAGTTG, XM_005267102.3:c.1276+9_1276+16del, XM_005267103.1:c.1276+9_1276+16del, NM_003057.2:c.1276+9_1276+16delGTAAGTTG +PA166155503 rs36079186 PA123 CYP2B6 NC_000019.10:41007013 1 1 1 0 0 NP_000758.1:p.Met198=, XP_011524848.1:p.Met198Thr, XM_006723050.2:c.593T>C, XP_006723113.1:p.Met198Thr, NC_000019.9:g.41512918=, XP_005258626.1:p.Met198Thr, NP_000758.1:p.Met198Thr, XM_011526548.1:c.484+2567T>C, NC_000019.10:g.41007013T>C, XM_005258571.1:c.364+2567T>C, XP_011524849.1:p.Met198Thr, NM_000767.4:c.593T>C, XM_005258569.3:c.593T>C, NC_000019.10:g.41007013=, XP_011524851.1:p.Met1Thr, XM_005258570.1:c.593T>C, XM_011526550.1:c.364+2567T>C, rs36079186, XM_011526546.1:c.593T>C, NG_007929.1:g.20715=, XM_011526547.1:c.593T>C, XM_005258569.1:c.593T>C, NG_007929.1:g.20715T>C, 36079186, NC_000019.9:g.41512918T>C, XM_011526549.1:c.2T>C, XP_005258627.1:p.Met198Thr +PA166169899 rs36080650 NC_000003.12:116712740 2 1 0 0 0 NC_000003.12:g.116712740T>C, NC_000003.12:g.116712740=, NC_000003.11:g.116431587=, 36080650, rs36080650, NC_000003.11:g.116431587T>C +PA166155504 rs36118214 PA123 CYP2B6 NC_000019.10:41013401 1 1 0 0 0 XM_005258569.3:c.1152+916G>A, NG_007929.1:g.27103G>T, NC_000019.9:g.41519306=, NC_000019.10:g.41013401G>A, rs36118214, 60761763, NC_000019.10:g.41013401=, XM_011526549.1:c.703+586G>A, XM_011526550.1:c.694+586G>A, XM_011526548.1:c.814+586G>A, XM_005258570.1:c.*49+371G>A, XM_011526546.1:c.*487G>A, NC_000019.9:g.41519306G>T, NG_007929.1:g.27103G>A, XM_006723050.2:c.1352+371G>A, 36118214, XM_005258569.1:c.1152+916G>A, NC_000019.9:g.41519306G>A, XM_011526547.1:c.*49+371G>A, rs60761763, NC_000019.10:g.41013401G>T, XM_005258571.1:c.694+586G>A, NG_007929.1:g.27103=, NM_000767.4:c.1294+586G>A +PA166211543 rs36120609 PA29024 GSTM3 NC_000001.11:109737631_109737635 8 2 0 0 0 4134655, NC_000001.10:g.110280253_110280257=, 113219091, NC_000001.11:g.109737633_109737635del, 36120609, NC_000001.10:g.110280255_110280257del, rs36120609, 140941181, NC_000001.11:g.109737631_109737635=, 137972101, NC_000001.11:g.109737633_109737635dup, NC_000001.10:g.110280255_110280257dup +PA166156915 rs361525 PA435 TNF NC_000006.12:31575324 10 1 0 0 0 rs361525, NT_113891.2:g.3052717G>A, NT_167248.2:g.2831143A>G, NT_167249.2:g.2874604G>A, NG_012010.1:g.8226=, NT_167246.2:g.2880365G>A, NC_000006.12:g.31575324G=, NG_007462.1:g.4752=, NC_000006.11:g.31543101G=, NT_167247.2:g.2917222G>A, 139679880, NT_113891.2:g.3052717G=, NM_000594.3:c.-418A>G, NM_000594.3:c.-418G>A, NT_167248.2:g.2831143A=, NT_167248.1:g.2836739A>G, NC_000006.12:g.31575324G>A, NT_167249.2:g.2874604G=, rs139679880, NT_167247.1:g.2922807G=, NG_007462.1:g.4752G=, 361525, NT_167246.1:g.2885985G>A, NT_167249.1:g.2873902G>A, NG_007462.1:g.4752G>A, NT_167245.2:g.2823057A=, NT_167246.2:g.2880365G=, NT_167247.1:g.2922807G>A, NC_000006.11:g.31543101=, NT_113891.3:g.3052611G>A, 36205296, NT_167249.1:g.2873902G=, NG_012010.1:g.8226G>A, NC_000006.12:g.31575324=, NT_167245.2:g.2823057A>G, NT_167246.1:g.2885985G=, rs4134778, rs36205296, 4134778, NC_000006.11:g.31543101G>A, NT_113891.3:g.3052611G=, NT_167248.1:g.2836739A=, NT_167245.1:g.2828642A=, NT_167247.2:g.2917222G=, NG_012010.1:g.8226G=, NT_167245.1:g.2828642A>G +PA166157488 rs36210421 PA212 KCNH2 NC_000007.14:150947340 3 0 0 0 0 NP_742054.1:p.Arg707Leu, NC_000007.14:g.150947340=, NC_000007.13:g.150644428C>A, 36210421, 41313758, NG_008916.1:g.35587=, XM_011516185.1:c.2840G>T, NC_000007.14:g.150947340C>A, NG_008916.1:g.35587G>A, NP_000229.1:p.Arg1047His, XP_011514487.1:p.Arg947Leu, NC_000007.13:g.150644428=, NG_008916.1:g.35587G>T, rs41313758, NP_000229.1:p.Arg1047Leu, NC_000007.13:g.150644428C>T, NM_000238.3:c.3140G>T, NC_000007.14:g.150947340C>T, NM_172057.2:c.2120G>T, NP_000229.1:p.Arg1047=, rs36210421, XM_011516186.1:c.*220G>T +PA166178078 rs36210737 PA109 CFTR NC_000007.14:117611743 3 1 0 0 1 NP_000483.3:p.Met1101Arg, NG_056128.1:g.4797=, NG_056128.1:g.4797T>G, NC_000007.13:g.117251797T>G, NG_016465.4:g.150960=, NG_056128.1:g.4797T>A, 36210737, NC_000007.13:g.117251797=, NG_016465.4:g.150960T>A, NP_000483.3:p.Met1101Lys, rs36210737, NC_000007.14:g.117611743=, NG_056128.2:g.4797T>A, NG_016465.4:g.150960T>G, NC_000007.14:g.117611743T>G, NG_056128.2:g.4797=, NG_056128.2:g.4797T>G, NC_000007.14:g.117611743T>A, NC_000007.13:g.117251797T>A, NP_000483.3:p.Met1101= +PA166186681 rs36217263 PA30130 KL NC_000013.11:33015697 1 1 0 0 0 36217263, NG_011485.1:g.4265del, NC_000013.10:g.33589835del, NG_011485.1:g.4265=, rs36217263, NC_000013.11:g.33015697=, NC_000013.10:g.33589835=, NC_000013.11:g.33015697del +PA166185304 rs362267 PA164741646,PA162379942 HTT,MSANTD1 NC_000004.12:3241491 1 1 0 0 0 NC_000004.12:g.3241491=, NC_000004.11:g.3243218C>G, 362267, NC_000004.12:g.3241491C>T, NC_000004.11:g.3243218=, NG_009378.1:g.171817=, NC_000004.12:g.3241491C>G, NG_009378.1:g.171817C>G, NC_000004.11:g.3243218C>T, NG_009378.1:g.171817C>T, rs362267 +PA166176959 rs362272 PA164741646 HTT NC_000004.12:3233253 1 1 0 0 0 NG_009378.1:g.163579G>T, 386584496, NP_002102.4:p.Val2788Phe, 59711124, NC_000004.11:g.3234980G>T, NC_000004.12:g.3233253G>T, 362272, NG_009378.1:g.163579=, NP_002102.4:p.Val2788Ile, NP_002102.4:p.Val2788=, NC_000004.11:g.3234980G>A, NG_009378.1:g.163579G>A, rs362272, 2229986, NC_000004.12:g.3233253G>A, NC_000004.11:g.3234980=, NC_000004.12:g.3233253= +PA166185306 rs362306 PA164741646,PA162379942 HTT,MSANTD1 NC_000004.12:3240373 1 1 0 0 0 386584497, rs362306, NC_000004.12:g.3240373G>A, NC_000004.11:g.3242100=, NC_000004.11:g.3242100G>A, NC_000004.12:g.3240373=, NG_009378.1:g.170699G>A, 56480181, 362306, NG_009378.1:g.170699=, 59129514 +PA166252925 rs362626 PA34323 RELN NC_000007.14:103576772 1 0 0 0 0 NG_011877.2:g.417745T>A, NC_000007.14:g.103576772A>G, NG_011877.2:g.417745T>C, rs362626, NC_000007.13:g.103217219A>T, NC_000007.14:g.103576772A>C, NC_000007.14:g.103576772=, NC_000007.13:g.103217219=, 10357787, NC_000007.13:g.103217219A>G, 57324994, NC_000007.13:g.103217219A>C, NG_011877.2:g.417745=, NG_011877.2:g.417745T>G, NC_000007.14:g.103576772A>T, 362626 +PA166252921 rs362719 PA34323 RELN NC_000007.14:103545430 1 0 0 0 0 10381055, NC_000007.14:g.103545430C>A, NC_000007.13:g.103185877=, NC_000007.13:g.103185877C>A, 362719, 60233150, NC_000007.14:g.103545430=, NG_011877.2:g.449087=, NG_011877.2:g.449087G>T, rs362719 +PA166252961 rs362726 PA34323 RELN NC_000007.14:103566787 1 0 0 0 0 NC_000007.13:g.103207234T>C, NC_000007.13:g.103207234=, 3815433, 58423738, rs362726, NC_000007.14:g.103566787=, NC_000007.14:g.103566787T>C, NG_011877.2:g.427730A>G, 362726, 10381574, NG_011877.2:g.427730= +PA166252962 rs362731 PA34323 RELN NC_000007.14:103568581 1 0 0 0 0 362731, NC_000007.14:g.103568581T>C, 58737456, NC_000007.13:g.103209028T>G, NG_011877.2:g.425936=, NG_011877.2:g.425936A>C, NC_000007.13:g.103209028=, NG_011877.2:g.425936A>G, rs362731, NC_000007.14:g.103568581=, NC_000007.14:g.103568581T>G, NC_000007.13:g.103209028T>C +PA166252968 rs362813 PA34323 RELN NC_000007.14:103574493 1 0 0 0 0 NC_000007.14:g.103574493T>G, NC_000007.13:g.103214940T>G, NC_000007.14:g.103574493T>C, rs362813, NC_000007.14:g.103574493=, NC_000007.14:g.103574493T>A, NG_011877.2:g.420024A>C, 59935936, NG_011877.2:g.420024A>G, NC_000007.13:g.103214940T>A, NC_000007.13:g.103214940T>C, NC_000007.13:g.103214940=, NG_011877.2:g.420024A>T, NG_011877.2:g.420024=, 362813 +PA166252963 rs362814 PA34323 RELN NC_000007.14:103574673 1 0 0 0 0 NC_000007.14:g.103574673=, NC_000007.13:g.103215120T>A, NC_000007.13:g.103215120T>C, NG_011877.2:g.419844A>G, NG_011877.2:g.419844=, NG_011877.2:g.419844A>T, rs362814, NC_000007.14:g.103574673T>A, NC_000007.13:g.103215120=, 362814, NC_000007.14:g.103574673T>C, 10336940 +PA166155908 rs363020 PA35980 SNAP25 NC_000020.11:10256575 1 0 0 0 0 NC_000020.10:g.10237223=, NG_029626.1:g.42747=, NC_000020.11:g.10256575=, NC_000020.10:g.10237223T>A, NG_029626.1:g.42747T>G, XM_005260808.3:c.-63-18854T>A, NC_000020.11:g.10256575T>C, NG_029626.1:g.42747T>C, NC_000020.11:g.10256575T>A, NM_003081.3:c.-63-18854T>A, 56450660, NG_029626.1:g.42747T>A, XM_005260809.1:c.-63-18854T>A, rs17441216, XM_005260811.1:c.-63-18854T>A, 363020, NM_130811.2:c.-63-18854T>A, XM_005260810.1:c.-63-18854T>A, 17441216, XM_005260808.1:c.-63-18854T>A, NC_000020.11:g.10256575T>G, 60673004, NC_000020.10:g.10237223T>G, rs363020, XM_005260810.3:c.-63-18854T>A, NC_000020.10:g.10237223T>C, rs60673004, rs56450660, XM_005260812.1:c.-370-18854T>A +PA166153949 rs363224 PA325 SLC18A2 NC_000010.11:117263062 1 0 0 0 0 56467431, NC_000010.11:g.117263062C>A, NC_000010.10:g.119022573C>A, NC_000010.10:g.119022573=, rs57914512, NC_000010.11:g.117263062=, NC_000010.11:g.117263062C>T, rs363224, rs17543598, rs56467431, NC_000010.10:g.119022573C>T, 17543598, 57914512, 363224, NM_003054.4:c.992-3671C>A +PA166184251 rs363225 PA325 SLC18A2 NC_000010.11:117264991 1 1 0 0 0 NC_000010.10:g.119024502C>T, NC_000010.11:g.117264991=, NC_000010.11:g.117264991C>T, rs363225, NC_000010.11:g.117264991C>A, 363225, 52808991, NC_000010.10:g.119024502C>A, NC_000010.10:g.119024502= +PA166184252 rs363226 PA325 SLC18A2 NC_000010.11:117265701 1 1 0 0 0 NC_000010.10:g.119025212G>A, NC_000010.10:g.119025212G>T, rs363226, NC_000010.10:g.119025212=, NC_000010.11:g.117265701G>T, NC_000010.11:g.117265701=, 57394404, NC_000010.11:g.117265701G>A, NC_000010.10:g.119025212G>C, 363226, 56630603, NC_000010.11:g.117265701G>C, 58773759 +PA166186083 rs363332 PA325 SLC18A2 NC_000010.11:117243156 1 0 0 0 0 61281164, NC_000010.11:g.117243156G>T, NC_000010.10:g.119002667=, NC_000010.11:g.117243156=, rs363332, NC_000010.10:g.119002667G>T, 363332, NC_000010.10:g.119002667G>A, NC_000010.11:g.117243156G>A +PA166186082 rs363334 PA325 SLC18A2 NC_000010.11:117245484 1 0 0 0 0 56837188, NC_000010.11:g.117245484C>G, NC_000010.10:g.119004995C>G, NC_000010.11:g.117245484=, 59275884, NC_000010.10:g.119004995=, 363334, rs363334 +PA166186081 rs363338 PA325 SLC18A2 NC_000010.11:117249878 1 0 0 0 0 363338, 57011544, rs363338, NC_000010.11:g.117249878C>T, NC_000010.10:g.119009389=, 56528792, NC_000010.11:g.117249878=, NC_000010.10:g.119009389C>T +PA166161288 rs363341 PA325 SLC18A2 NC_000010.11:117250954 1 1 0 0 0 NC_000010.11:g.117250954C>G, NC_000010.10:g.119010465C>G, NC_000010.11:g.117250954=, 3753132, NC_000010.11:g.117250954C>A, NC_000010.11:g.117250954C>T, NC_000010.10:g.119010465C>T, 363341, NC_000010.10:g.119010465=, NC_000010.10:g.119010465C>A, rs363341, 58182145 +PA166153950 rs363343 PA325 SLC18A2 NC_000010.11:117255437 1 0 0 0 0 NC_000010.11:g.117255437C>A, NC_000010.10:g.119014948C>A, NM_003054.4:c.791-42C>A, NC_000010.10:g.119014948=, rs363343, 363343, NC_000010.11:g.117255437=, rs58082994, 58082994 +PA166153951 rs363371 PA325 SLC18A2 NC_000010.11:117226885 1 0 0 0 0 56433345, rs56433345, rs363371, 363371, 60933142, rs60933142, NC_000010.10:g.118986396G>A, NC_000010.11:g.117226885=, NC_000010.10:g.118986396=, NC_000010.11:g.117226885G>A +PA166153952 rs363390 PA325 SLC18A2 NC_000010.11:117244568 2 0 0 0 0 rs363390, NC_000010.10:g.119004079G>C, 363390, NC_000010.11:g.117244568G>A, NC_000010.10:g.119004079G>A, rs59729204, NC_000010.10:g.119004079=, NC_000010.11:g.117244568G>C, NM_003054.4:c.464+255G>C, XR_946342.1:n.-1805C>G, NC_000010.11:g.117244568=, 59729204 +PA166157256 rs365836 PA162382924 CUX1 NC_000007.14:102166571 1 0 0 0 0 XM_006715855.1:c.1024-3875A>G, XM_011515823.1:c.1024-3875A>G, NM_001202544.2:c.709-3875A>G, NC_000007.13:g.101809851=, XM_005250152.1:c.976-3875A>G, 59320715, NM_001202543.1:c.757-3875A>G, XM_005250151.1:c.1024-3875A>G, NM_001202546.2:c.646-3875A>G, NG_029476.2:g.355668A>G, XM_005250154.1:c.1024-3875A>G, XM_005250150.1:c.1024-3875A>G, rs59320715, XM_011515824.1:c.1024-3875A>G, 10348994, rs365836, XM_011515825.1:c.757-3875A>G, rs10348994, XM_006715856.2:c.757-3875A>G, NC_000007.14:g.102166571A>G, NC_000007.13:g.101809851A>G, NM_001913.4:c.757-3875A>G, 365836, XM_005250154.3:c.1024-3875A>G, NM_181552.3:c.724-3875A>G, NM_001202545.2:c.619-3875A>G, NM_181500.3:c.757-3875A>G, XM_006715854.1:c.1024-3875A>G, XM_005250153.1:c.709-3875A>G, XM_005250155.1:c.799-3875A>G, NC_000007.14:g.102166571=, NW_003571037.1:g.90901A>G, NG_029476.2:g.355668= +PA166176039 rs367398 PA31686 NOTCH4 NC_000006.12:32223953 1 1 0 0 0 117655199, NG_028190.1:g.5115=, NC_000006.12:g.32223953G>A, 111378161, 367398, 114002395, NC_000006.11:g.32191730G>A, 1265801, NG_028190.1:g.5115C>T, rs367398, 59986698, NC_000006.12:g.32223953=, NC_000006.11:g.32191730= +PA166156246 rs367543000 PA128 CYP2D6 NC_000022.11:42128212 2 1 1 0 0 XM_005278353.1:c.661C>A, NP_000097.3:p.Arg269Ter, NC_000022.10:g.42524214G>T, XM_011529971.1:c.661C>G, XM_011529966.1:c.805C>T, XP_011528271.1:p.Arg221Ter, XM_011529971.1:c.661C>T, XP_011528274.1:p.Arg269Gly, XP_011547121.1:p.Arg169=, NP_000097.3:p.Arg269Gly, XP_005278410.1:p.Arg221=, XP_011546053.1:p.Arg197Ter, NG_008376.3:g.6780C>A, XP_011528273.1:p.Arg221Gly, XM_005278353.1:c.661C>G, XM_011547756.1:c.-1823G>T, NC_000022.11:g.42128212G>A, XM_011529966.1:c.805C>A, XP_011528274.1:p.Arg269Ter, NC_000022.11:g.42128212G>C, XM_011529966.1:c.805C>G, XP_011528271.1:p.Arg221Gly, NG_008376.3:g.6780C>G, XP_011546053.1:p.Arg197Gly, XP_011528270.1:p.Arg269=, NP_001020332.2:p.Arg218=, XP_011528273.1:p.Arg221=, NG_008376.3:g.6780C>T, NC_000022.11:g.42128212G>T, XP_011528271.1:p.Arg221=, XM_005278353.1:c.661C>T, NC_000022.10:g.42524214G>C, XP_011528274.1:p.Arg269=, NC_000022.10:g.42524214G>A, XR_952745.1:n.1962C>T, XM_011529970.1:c.652C>G, XM_011529970.1:c.652C>A, XM_011529972.1:c.805C>A, NW_009646208.1:g.13778G>A, XP_011528269.1:p.Arg269=, XP_011546052.1:p.Arg221Ter, NW_009646208.1:g.13778G>C, XP_011528268.1:p.Arg269=, XM_011529970.1:c.652C>T, XP_011547121.1:p.Arg169Gly, XM_011529972.1:c.805C>G, XP_011528272.1:p.Arg218Gly, XP_011528270.1:p.Arg269Ter, XP_011547121.1:p.Arg169Ter, NC_000022.11:g.42128212=, XP_005278411.1:p.Arg169=, XP_011545843.1:p.Arg169=, XM_011547756.1:c.-1823G>C, XM_011529972.1:c.805C>T, XM_011547756.1:c.-1823G>A, XP_011528272.1:p.Arg218Ter, XP_011528273.1:p.Arg221Ter, XP_011528270.1:p.Arg269Gly, XM_011529971.1:c.661C>A, XP_005278411.1:p.Arg169Ter, XP_011546053.1:p.Arg197=, NM_000106.5:c.805C>T, 367543000, NP_000097.3:p.Arg269=, NC_000022.10:g.42524214=, NM_000106.5:c.805C>G, NM_000106.5:c.805C>A, XM_011529969.1:c.661C>T, XM_011547750.1:c.661C>A, rs367543000, XM_011547750.1:c.661C>G, XM_011529967.1:c.805C>A, NW_009646208.1:g.13778G>T, XM_011529967.1:c.805C>G, XM_011547750.1:c.661C>T, XP_005278410.1:p.Arg221Gly, NG_008376.4:g.7599=, XM_011529968.1:c.805C>T, XP_005278411.1:p.Arg169Gly, XM_011529968.1:c.805C>A, NG_008376.3:g.6780=, NT_187682.1:g.50553G>C, XM_011529968.1:c.805C>G, XP_011546052.1:p.Arg221Gly, NG_008376.4:g.7599C>T, NT_187682.1:g.50553G>A, XM_011529967.1:c.805C>T, NT_187682.1:g.50553G>T, XR_952745.1:n.1962C>A, XP_011528268.1:p.Arg269Ter, XM_005278354.3:c.505C>G, XM_011548819.1:c.505C>G, XP_005278410.1:p.Arg221Ter, XM_011548819.1:c.505C>A, NM_001025161.2:c.652C>G, XM_005278354.3:c.505C>A, NM_001025161.2:c.652C>T, XM_011547541.1:c.505C>T, XM_011547751.1:c.589C>G, XP_011528269.1:p.Arg269Gly, XR_952745.1:n.1962C>G, XM_011547751.1:c.589C>A, XP_011528272.1:p.Arg218=, NG_008376.4:g.7599C>G, XM_011548819.1:c.505C>T, NG_008376.4:g.7599C>A, NM_001025161.2:c.652C>A, XM_005278354.3:c.505C>T, XP_011545843.1:p.Arg169Ter, XM_011529969.1:c.661C>A, NW_004504305.1:g.50539G>T, XM_011547541.1:c.505C>A, XM_011529969.1:c.661C>G, XP_011546052.1:p.Arg221=, NP_001020332.2:p.Arg218Gly, XR_430455.2:n.-1659G>T, XP_011545843.1:p.Arg169Gly, XM_005278354.1:c.505C>T, XP_011528268.1:p.Arg269Gly, NW_004504305.1:g.50539G>C, XM_005278354.1:c.505C>G, NW_004504305.1:g.50539G>A, XP_011528269.1:p.Arg269Ter, XM_011547751.1:c.589C>T, XR_430455.2:n.-1659G>C, NP_001020332.2:p.Arg218Ter, XM_005278354.1:c.505C>A, XM_011547541.1:c.505C>G, XR_430455.2:n.-1659G>A +PA166159539 rs367619008 PA145 DPYD NC_000001.11:97828160 3 1 0 0 0 NP_000101.2:p.Lys63=, DPYD c.187 A > G, NC_000001.11:g.97828160=, 367619008, NC_000001.10:g.98293716T>C, DPYD p.Lys63Glu, NG_008807.2:g.97900=, NC_000001.11:g.97828160T>C, NC_000001.10:g.98293716=, NP_000101.2:p.Lys63Glu, rs367619008, NG_008807.2:g.97900A>G +PA166154228 rs367826293 PA126 CYP2C9 NC_000010.11:94981225 2 0 0 0 0 NC_000010.11:g.94981225G>A, NG_008385.1:g.47568G>A, NP_000762.2:p.Arg335Gln, 367826293, NC_000010.11:g.94981225=, NG_008385.1:g.47568=, NC_000010.10:g.96740982G>A, NP_000762.2:p.Arg335=, rs367826293, XP_005269632.1:p.Arg335Gln, XM_005269575.1:c.1004G>A, NG_008385.2:g.48068=, NM_000771.3:c.1004G>A, NC_000010.10:g.96740982=, NG_008385.2:g.48068G>A +PA166319225 rs368146607 PA145 DPYD NC_000001.11:97450118 1 1 0 0 0 NG_008807.2:g.475942A>C, NP_000101.2:p.Lys616=, NG_008807.2:g.475942=, NP_000101.2:p.Lys616Gln, rs368146607, NC_000001.10:g.97915674=, 368146607, NC_000001.11:g.97450118=, NC_000001.11:g.97450118T>G, NC_000001.10:g.97915674T>G +PA166319201 rs368152149 PA145 DPYD NC_000001.11:97699463 1 0 0 0 0 368152149, NC_000001.11:g.97699463=, NG_008807.2:g.226597A>T, NP_000101.2:p.Ile190Val, rs368152149, NC_000001.10:g.98165019T>C, NC_000001.10:g.98165019T>A, NG_008807.2:g.226597A>G, NG_008807.2:g.226597=, NP_000101.2:p.Ile190=, NC_000001.10:g.98165019=, NC_000001.11:g.97699463T>A, NP_000101.2:p.Ile190Phe, NC_000001.11:g.97699463T>C +PA166281281 rs368245720 NC_000010.11:105921720 1 0 0 0 0 NC_000010.11:g.105921720=, 368245720, NC_000010.10:g.107681478T>A, NC_000010.10:g.107681478=, NC_000010.11:g.105921720T>A, rs368245720 +PA166242081 rs368296206 PA130 CYP3A4 NC_000007.14:99763877 15 1 1 0 0 NP_059488.2:p.Ile335Thr, NP_059488.2:p.Ile335=, 368296206, NC_000007.13:g.99361500=, NG_008421.1:g.25309T>C, NG_054907.1:g.347A>G, NC_000007.14:g.99763877=, NC_000007.14:g.99763877A>G, NG_054907.1:g.347=, NG_008421.1:g.25309=, rs368296206, NC_000007.13:g.99361500A>G +PA166319204 rs368327291 PA145 DPYD NC_000001.11:97305346 1 0 0 0 0 rs368327291, NG_008807.2:g.620714G>C, NP_000101.2:p.Val738=, 368327291, NC_000001.10:g.97770902=, NC_000001.11:g.97305346=, NC_000001.10:g.97770902C>G, NP_000101.2:p.Val738Leu, NC_000001.11:g.97305346C>G, NG_008807.2:g.620714= +PA166164940 rs368505753 PA109 CFTR NC_000007.14:117509069 1 1 0 1 4 NG_016465.4:g.48286C>T, NG_016465.4:g.48286=, NC_000007.14:g.117509069=, NC_000007.13:g.117149123C>T, NG_062452.1:g.707C>T, NP_000483.3:p.Pro67=, NC_000007.14:g.117509069C>T, NP_000483.3:p.Pro67Leu, 368505753, rs368505753, NG_062452.1:g.707=, NC_000007.13:g.117149123= +PA166319206 rs368519011 PA145 DPYD NC_000001.11:97193071 1 0 0 0 0 NC_000001.10:g.97658627T>C, NC_000001.11:g.97193071T>C, 368519011, NG_008807.2:g.732989A>G, rs368519011, NG_008807.2:g.732989=, NP_000101.2:p.Lys874=, NP_000101.2:p.Lys874Glu, NC_000001.11:g.97193071=, NC_000001.10:g.97658627= +PA166207501 rs368545396 PA126 CYP2C9 NC_000010.11:94988879 1 0 0 0 0 NC_000010.11:g.94988879G>A, NG_008385.2:g.55722=, NG_008385.1:g.55222=, rs368545396, NP_000762.2:p.Gly442Ser, NC_000010.10:g.96748636G>A, NG_008385.1:g.55222G>A, 368545396, NP_000762.2:p.Gly442=, NG_008385.2:g.55722G>A, NC_000010.10:g.96748636=, NC_000010.11:g.94988879= +PA166160909 rs368600943 PA145 DPYD NC_000001.11:97573998 1 0 0 0 0 NC_000001.10:g.98039554=, rs368600943, NC_000001.11:g.97573998C>A, 368600943, NG_008807.2:g.352062G>T, NC_000001.11:g.97573998=, NC_000001.10:g.98039554C>A, NG_008807.2:g.352062= +PA166208163 rs368758960 PA124 CYP2C19 NC_000010.11:94842878 1 0 0 0 0 368758960, NP_000760.1:p.Arg335Trp, NC_000010.10:g.96602635C>T, NP_000760.1:p.Arg335=, NC_000010.10:g.96602635=, NC_000010.11:g.94842878C>T, NG_008384.3:g.85198C>T, rs368758960, NC_000010.11:g.94842878=, NG_008384.3:g.85198= +PA166232921 rs368967198 PA159 F5 NC_000001.11:169529903 1 0 0 0 0 rs368967198, NC_000001.11:g.169529903=, NG_011806.1:g.61629=, NG_011806.1:g.61629T>C, NC_000001.11:g.169529903A>G, 368967198, NC_000001.10:g.169499141=, NC_000001.10:g.169499141A>G +PA166319181 rs368970772 PA145 DPYD NC_000001.11:97699542 1 0 0 0 0 rs368970772, NC_000001.11:g.97699542=, NG_008807.2:g.226518=, NC_000001.11:g.97699542G>A, NC_000001.11:g.97699542G>C, NG_008807.2:g.226518C>G, NC_000001.10:g.98165098=, NG_008807.2:g.226518C>A, NC_000001.11:g.97699542G>T, NC_000001.10:g.98165098G>T, 368970772, NP_000101.2:p.Phe163=, NP_000101.2:p.Phe163Leu, NC_000001.10:g.98165098G>C, NG_008807.2:g.226518C>T, NC_000001.10:g.98165098G>A +PA166319222 rs369103276 PA145 DPYD NC_000001.11:97679103 1 1 0 0 0 NC_000001.10:g.98144659=, NP_000101.2:p.Ile281Thr, rs369103276, NP_000101.2:p.Ile281=, NG_008807.2:g.246957=, NC_000001.11:g.97679103A>G, 369103276, NC_000001.10:g.98144659A>G, NG_008807.2:g.246957T>C, NC_000001.11:g.97679103= +PA166270221 rs370100007 PA126 CYP2C9 NC_000010.11:94947939 1 0 0 0 0 NC_000010.11:g.94947939G>A, NC_000010.10:g.96707696=, NG_008385.2:g.14782G>A, NC_000010.11:g.94947939=, rs370100007, NG_008385.2:g.14782=, NC_000010.10:g.96707696G>A, NP_000762.2:p.Gln214His, 370100007, NC_000010.11:g.94947939G>T, NP_000762.2:p.Gln214=, NC_000010.10:g.96707696G>T, NG_008385.2:g.14782G>T +PA166170125 rs37020 PA311 SLC6A3 NC_000005.10:1418259 2 0 0 0 0 3776506, NC_000005.9:g.1418374=, NC_000005.9:g.1418374A>C, NG_015885.1:g.32170T>G, NG_015885.1:g.32170=, 37020, rs37020, NC_000005.10:g.1418259A>C, NC_000005.10:g.1418259=, NC_000005.10:g.1418259A>T, NG_015885.1:g.32170T>A, NC_000005.9:g.1418374A>T +PA166170126 rs37022 PA311 SLC6A3 NC_000005.10:1415514 2 0 0 0 0 NC_000005.10:g.1415514A>T, NG_015885.1:g.34915=, 57977708, 3756455, 37022, NC_000005.10:g.1415514=, NC_000005.9:g.1415629A>T, rs37022, NG_015885.1:g.34915T>A, NC_000005.9:g.1415629= +PA166153938 rs370457585 PA31799 NT5C1A NC_000001.11:39661180 1 1 0 0 0 NC_000001.10:g.40126852C>T, NM_032526.2:c.640G>A, rs370457585, NC_000001.11:g.39661180C>T, 370457585, NP_115915.1:p.Ala214Thr, NC_000001.10:g.40126852=, NP_115915.1:p.Ala214=, NC_000001.11:g.39661180C>G, NC_000001.10:g.40126852C>G, NP_115915.1:p.Ala214Pro, NM_032526.2:c.640G>C, NC_000001.11:g.39661180= +PA166319202 rs370569731 PA145 DPYD NC_000001.11:97573792 1 0 0 0 0 NC_000001.11:g.97573792=, NC_000001.10:g.98039348C>T, NG_008807.2:g.352268G>A, NG_008807.2:g.352268=, NC_000001.11:g.97573792C>T, NC_000001.11:g.97573792C>G, NP_000101.2:p.Ser436=, NG_008807.2:g.352268G>C, rs370569731, NC_000001.10:g.98039348C>G, 370569731, NP_000101.2:p.Ser436Thr, NC_000001.10:g.98039348=, NP_000101.2:p.Ser436Asn +PA166319141 rs370615432 PA145 DPYD NC_000001.11:97721651 1 0 0 0 0 NC_000001.11:g.97721651C>T, NC_000001.10:g.98187207=, NP_000101.2:p.Lys114=, NP_000101.2:p.Lys114Asn, NG_008807.2:g.204409G>T, NC_000001.11:g.97721651=, NC_000001.11:g.97721651C>A, rs370615432, NC_000001.10:g.98187207C>A, NC_000001.10:g.98187207C>T, 370615432, NG_008807.2:g.204409=, NG_008807.2:g.204409G>A +PA166319203 rs370707404 PA145 DPYD NC_000001.11:97549693 1 0 0 0 0 370707404, NC_000001.10:g.98015249=, NC_000001.10:g.98015249A>G, NG_008807.2:g.376367T>C, rs370707404, NG_008807.2:g.376367=, NP_000101.2:p.Val464Ala, NC_000001.11:g.97549693=, NC_000001.11:g.97549693A>G, NP_000101.2:p.Val464= +PA166154229 rs370803989 PA124 CYP2C19 NC_000010.11:94780579 10 1 1 0 0 NC_000010.11:g.94780579G>A, NP_000760.1:p.Asp188Asn, rs370803989, NG_008384.2:g.22874G>A, NM_000769.1:c.562G>A, NP_000760.1:p.Asp188=, 370803989, NC_000010.11:g.94780579=, NG_008384.3:g.22899G>A, NC_000010.10:g.96540336=, NM_000769.2:c.562G>A, NG_008384.3:g.22899=, NC_000010.10:g.96540336G>A +PA166157235 rs371194629 PA35083 HLA-G NC_000006.12:29830805 3 2 0 0 0 XM_011548236.1:c.*65_*80insATTTGT, XM_005249057.1:c.*280_*281insATTTGT, NC_000006.12:g.29830804_29830805insATTTGT, NT_167245.1:g.1099202_1099203insATTTGTTCATGCCT, XM_005275394.1:c.*76_*80insATTTGTTCATGCCT, XM_005275551.1:c.*291_*295insATTTGT, XM_005249057.1:c.*280_*281insATTTGTTCATGCCT, 371194629, XM_005275122.1:c.*65_*66insATTTGT, XR_247353.1:n.1692-1_1692insATTTGTTCATGCCT, NT_167245.1:g.1099202_1099203insATTTGT, NC_000006.12:g.29830804_29830805=, NG_029039.1:g.8826_8827insATTTGT, NM_002127.5:c.*65_*66insATTTGT, NC_000006.11:g.29798581_29798582insATTTGTTCACGCCT, rs371194629, NT_167246.1:g.1098910_1098911insATTTGT, XM_005249056.1:c.*65_*66insATTTGTTCATGCCT, XM_005275551.1:c.*291_*295insATTTGTTCATGCCT, XR_247370.1:n.1692-1_1692insATTTGTTCATGCCT, XM_005274966.1:c.*280_*281insATTTGT, XM_005274967.1:c.*65_*66insATTTGT, XM_005274964.1:c.*65_*66insATTTGTTCATGCCT, XM_011548237.1:c.*65_*80insATTTGT, XM_005275121.1:c.*280_*281insATTTGTTCATGCCT, NT_167246.2:g.1093290_1093291insATTTGT, XM_005249056.1:c.*65_*66insATTTGT, XM_005272810.1:c.*65_*67insATTTGTTCATGCCT, XM_005249058.1:c.*65_*66insATTTGTTCATGCCT, XR_247389.1:n.1692-1_1692insATTTGTTCATGCCT, NC_000006.11:g.29798581_29798582=, XM_005274967.1:c.*65_*66insATTTGTTCATGCCT, XM_005275394.1:c.*76_*80insATTTGT, XR_247353.1:n.1692-1_1692insATTTGT, XM_005275550.1:c.*76_*80insATTTGTTCATGCCT, NT_167248.2:g.1093570_1093585insATTTGT, XM_011548430.1:c.*65_*80insATTTGTTCATGCCT, NC_000006.12:g.29830804_29830805insATTTGTTCATGCCT, XM_011548431.1:c.*65_*80insATTTGT, NT_167247.1:g.1098860_1098861insATTTGTTCATGCCT, NT_167247.2:g.1093275_1093276insATTTGT, XR_247370.1:n.1692-1_1692insATTTGT, NT_167245.2:g.1093617_1093618insATTTGTTCATGCCT, XM_005275549.1:c.*76_*80insATTTGT, XM_005275119.1:c.*65_*66insATTTGT, XR_241896.1:n.1692-1_1692insATTTGTTCATGCCT, XR_247389.1:n.1692-1_1692insATTTGT, XM_011548048.1:c.*65_*66insATTTGT, NM_002127.5:c.*65_*66insATTTGTTCATGCCT, XR_247402.1:n.1622_1626insATTTGTTCATGCCT, XM_005275249.1:c.*65_*66insATTTGT, XM_005275249.1:c.*65_*66insATTTGTTCATGCCT, NT_167247.2:g.1093275_1093276insATTTGTTCATGCCT, XR_246963.1:n.1612-1_1613insATTTGT, XM_011548430.1:c.*65_*80insATTTGT, XM_005249055.1:c.*65_*66insATTTGT, XR_247423.1:n.1680_1684insATTTGT, NT_167244.2:g.1096416_1096431insATTTGT, XM_005275120.1:c.*65_*66insATTTGT, NG_029039.1:g.8826_8827insATTTGTTCATGCCT, XR_241896.1:n.1692-1_1692insATTTGT, NT_167246.1:g.1098910_1098911insATTTGTTCATGCCT, XM_005275248.1:c.*280_*281insATTTGT, XM_005275246.1:c.*65_*66insATTTGTTCATGCCT, XM_005275247.1:c.*65_*66insATTTGT, XM_011547882.1:c.*65_*66insATTTGT, XM_005275120.1:c.*65_*66insATTTGTTCATGCCT, XM_011547651.1:c.*65_*66insATTTGT, XM_011548237.1:c.*65_*80insATTTGTTCATGCCT, XR_246963.1:n.1612-1_1613insATTTGTTCATGCCT, XM_005275552.1:c.*76_*80insATTTGT, NC_000006.11:g.29798581_29798582insATTTGTTCATGCCT, NT_113891.3:g.1314366_1314381insATTTGTTCATGCCT, XM_005275550.1:c.*76_*80insATTTGT, XR_247402.1:n.1622_1626insATTTGT, XM_011548236.1:c.*65_*80insATTTGTTCATGCCT, XM_005275549.1:c.*76_*80insATTTGTTCATGCCT, XM_005275246.1:c.*65_*66insATTTGT, XM_005275119.1:c.*65_*66insATTTGTTCATGCCT, NT_167247.1:g.1098860_1098861insATTTGT, XM_005275247.1:c.*65_*66insATTTGTTCATGCCT, NG_029039.1:g.8826_8827=, XM_005274966.1:c.*280_*281insATTTGTTCATGCCT, NC_000006.11:g.29798581_29798582insATTTGT, NT_167248.2:g.1093570_1093585insATTTGTTCATGCCT, XM_005274964.1:c.*65_*66insATTTGT, XM_011547882.1:c.*65_*66insATTTGTTCATGCCT, XM_011548048.1:c.*65_*66insATTTGTTCATGCCT, NT_167244.2:g.1096416_1096431insATTTGTTCATGCCT, XM_005275248.1:c.*280_*281insATTTGTTCATGCCT, XM_011547651.1:c.*65_*66insATTTGTTCATGCCT, 16375, XM_011548431.1:c.*65_*80insATTTGTTCATGCCT, NG_029039.1:g.8826_8827insATTTGTTCACGCCT, XM_005272810.1:c.*65_*67insATTTGT, XM_005274965.1:c.*65_*66insATTTGT, XM_005275122.1:c.*65_*66insATTTGTTCATGCCT, NT_167249.2:g.1136835_1136850insATTTGT, NT_167249.2:g.1136835_1136850insATTTGTTCATGCCT, XR_247423.1:n.1680_1684insATTTGTTCATGCCT, XM_005249055.1:c.*65_*66insATTTGTTCATGCCT, NT_167246.2:g.1093290_1093291insATTTGTTCATGCCT, NT_113891.3:g.1314366_1314381insATTTGT, XM_005275552.1:c.*76_*80insATTTGTTCATGCCT, XM_005274965.1:c.*65_*66insATTTGTTCATGCCT, NC_000006.12:g.29830804_29830805insATTTGTTCACGCCT, NT_167245.2:g.1093617_1093618insATTTGT, XM_005275121.1:c.*280_*281insATTTGT, XM_005249058.1:c.*65_*66insATTTGT +PA166319224 rs371258350 PA145 DPYD NC_000001.11:97450156 1 1 0 0 0 NC_000001.11:g.97450156C>G, rs371258350, NC_000001.10:g.97915712C>T, NG_008807.2:g.475904G>A, NG_008807.2:g.475904G>T, NC_000001.10:g.97915712C>A, NC_000001.11:g.97450156C>A, NP_000101.2:p.Gly603=, NP_000101.2:p.Gly603Val, 371258350, NG_008807.2:g.475904=, NC_000001.10:g.97915712C>G, NC_000001.10:g.97915712=, NC_000001.11:g.97450156C>T, NP_000101.2:p.Gly603Ala, NC_000001.11:g.97450156=, NG_008807.2:g.475904G>C, NP_000101.2:p.Gly603Glu +PA166319227 rs371313778 PA145 DPYD NC_000001.11:97234860 1 0 0 0 0 NC_000001.10:g.97700416=, NP_000101.2:p.Val812Ile, rs371313778, NC_000001.10:g.97700416C>T, 371313778, NC_000001.11:g.97234860=, NC_000001.11:g.97234860C>T, NP_000101.2:p.Val812=, NG_008807.2:g.691200=, NG_008807.2:g.691200G>A +PA166319183 rs371792178 PA145 DPYD NC_000001.11:97699507 1 0 0 0 0 NP_000101.2:p.Ser175=, 371792178, NC_000001.10:g.98165063=, NP_000101.2:p.Ser175Trp, NC_000001.10:g.98165063G>A, NG_008807.2:g.226553C>G, rs371792178, NC_000001.10:g.98165063G>C, NG_008807.2:g.226553=, NC_000001.11:g.97699507G>C, NC_000001.11:g.97699507G>A, NG_008807.2:g.226553C>T, NC_000001.11:g.97699507=, NP_000101.2:p.Ser175Leu +PA166156250 rs371793722 PA128 CYP2D6 NC_000022.11:42128794 1 1 0 0 0 XP_011545843.1:p.Phe119Ser, NP_000097.3:p.Phe219=, XM_011529967.1:c.656T>C, XP_005278410.1:p.Phe171Ser, XM_011529971.1:c.512T>C, NM_001025161.2:c.503T>C, XM_011547751.1:c.440T>C, NP_001020332.2:p.Phe168Ser, XM_011547756.1:c.-1241A>G, NM_000106.5:c.656T>C, XM_005278353.1:c.512T>C, XM_011529970.1:c.503T>C, NG_008376.4:g.7017=, XP_011546053.1:p.Phe147Ser, rs371793722, XM_011547541.1:c.356T>C, XP_011528270.1:p.Phe219Ser, XR_430455.2:n.-1077A>G, NC_000022.10:g.42524796A>G, XP_011528268.1:p.Phe219Ser, XM_005278354.3:c.356T>C, NC_000022.11:g.42128794=, NW_004504305.1:g.51121A>G, XM_011548819.1:c.356T>C, XP_011546052.1:p.Phe171Ser, NG_008376.4:g.7017T>C, NW_009646208.1:g.14360A>G, XM_011547750.1:c.512T>C, XM_011529969.1:c.512T>C, XM_011529972.1:c.656T>C, NC_000022.10:g.42524796=, XM_005278354.1:c.356T>C, XM_011529968.1:c.656T>C, XP_005278411.1:p.Phe119Ser, XP_011528269.1:p.Phe219Ser, XP_011547121.1:p.Phe119Ser, XP_011528274.1:p.Phe219Ser, XP_011528272.1:p.Phe168Ser, XM_011529966.1:c.656T>C, NG_008376.3:g.6198=, NC_000022.11:g.42128794A>G, NP_000097.3:p.Phe219Ser, XP_011528271.1:p.Phe171Ser, NT_187682.1:g.51135A>G, XR_952745.1:n.1813T>C, 371793722, NG_008376.3:g.6198T>C, XP_011528273.1:p.Phe171Ser +PA166320021 rs372058915 PA145 DPYD NC_000001.11:97193164 1 0 0 0 0 372058915, NG_008807.2:g.732896A>G, NC_000001.10:g.97658720=, NP_000101.2:p.Ile843=, rs372058915, NC_000001.10:g.97658720T>C, NC_000001.11:g.97193164=, NC_000001.11:g.97193164T>C, NP_000101.2:p.Ile843Val, NG_008807.2:g.732896= +PA166319207 rs372307932 PA145 DPYD NC_000001.11:97082394 1 1 0 0 0 NC_000001.11:g.97082394A>G, NG_008807.2:g.843666=, NG_008807.2:g.843666T>C, NG_008807.2:g.843666T>A, NP_000101.2:p.Ile948=, 372307932, NC_000001.11:g.97082394=, NC_000001.10:g.97547950A>G, NC_000001.10:g.97547950A>T, NC_000001.11:g.97082394A>T, NP_000101.2:p.Ile948Asn, NC_000001.10:g.97547950=, rs372307932, NP_000101.2:p.Ile948Thr +PA166320025 rs372909322 PA145 DPYD NC_000001.11:97193087 1 0 0 0 0 372909322, NC_000001.11:g.97193087=, NC_000001.11:g.97193087T>C, NC_000001.10:g.97658643=, NC_000001.10:g.97658643T>C, NP_000101.2:p.Ile868Met, NG_008807.2:g.732973A>G, NP_000101.2:p.Ile868=, rs372909322, NG_008807.2:g.732973= +PA166185916 rs372966991 PA28707 GLA NC_000023.11:101403845 1 1 0 0 0 NP_000160.1:p.Arg112His, NC_000023.11:g.101403845=, rs372966991, NG_007119.1:g.9119G>T, NG_016327.1:g.643=, NC_000023.10:g.100658833C>A, NG_016327.1:g.643C>A, NC_000023.11:g.101403845C>A, NC_000023.10:g.100658833=, NP_000160.1:p.Arg112=, NG_007119.1:g.9119G>A, NG_016327.1:g.643C>T, 372966991, NC_000023.10:g.100658833C>T, NP_000160.1:p.Arg112Leu, NC_000023.11:g.101403845C>T, NG_007119.1:g.9119= +PA166177339 rs3729856 PA28587 GATA4 NC_000008.11:11757066 1 0 0 0 0 NP_002043.2:p.Ser377=, NC_000008.11:g.11757066A>G, NC_000008.10:g.11614575=, NC_000008.10:g.11614575A>G, NG_008177.2:g.85148=, rs3729856, NG_008177.2:g.85148A>G, 3729856, NC_000008.11:g.11757066=, NP_002043.2:p.Ser377Gly +PA166159615 rs3729910 PA30616 MAPK1 NC_000022.11:21807837 1 0 0 0 0 NP_002736.3:p.Tyr43=, NC_000022.11:g.21807837A>G, NC_000022.10:g.22162126=, rs3729910, 17759718, 386488966, NC_000022.10:g.22162126A>G, NG_023054.2:g.64844T>C, NG_023054.2:g.64844=, 3729910, NC_000022.11:g.21807837= +PA166156814 rs3730089 PA33312 PIK3R1 NC_000005.10:68292320 1 0 0 0 0 rs52830014, NP_852664.1:p.Met326Ile, NC_000005.9:g.67588148=, NG_012849.2:g.81565G>A, NP_852665.1:p.Met26Ile, NM_181504.3:c.168G>A, NC_000005.10:g.68292320G>A, NM_181523.2:c.978G>A, NG_012849.2:g.81565=, NC_000005.9:g.67588148G>A, 3730089, NP_852556.2:p.Met56Ile, rs3730089, XP_011541795.1:p.Met217Ile, XM_011543493.1:c.651G>A, XM_005248542.1:c.978G>A, NP_852556.2:p.Met56=, 386584794, XP_005248599.1:p.Met326Ile, NM_181523.1:c.978G>A, NM_181524.1:c.78G>A, rs17847316, XM_005248542.2:c.978G>A, 52830014, NC_000005.10:g.68292320=, 17847316, rs386584794, NM_001242466.1:c.-480G>A +PA166169828 rs3730251 PA33678 PPP3CA NC_000004.12:101195926 2 0 0 0 0 3730251, NC_000004.12:g.101195926C>T, rs3730251, NC_000004.12:g.101195926C>A, NC_000004.11:g.102117083=, NC_000004.12:g.101195926=, NP_000935.1:p.Ala83=, NC_000004.11:g.102117083C>A, NC_000004.11:g.102117083C>T +PA166157076 rs3730353 PA28454 FYN NC_000006.12:111674463 1 0 0 0 0 XM_011535666.1:c.1561+36T>C, NM_002037.5:c.1405+36T>C, XM_005266887.1:c.1405+36T>C, XM_005266890.1:c.1396+36T>C, NC_000006.11:g.111995666A>G, XM_005266889.1:c.1405+36T>C, XM_011535664.1:c.1561+36T>C, XM_005266892.2:c.1240+36T>C, 3730353, XM_011535668.1:c.1561+36T>C, NC_000006.12:g.111674463A>G, rs3730353, XM_005266891.1:c.1249+36T>C, NM_153047.3:c.1396+36T>C, XM_011535662.1:c.1561+36T>C, NM_153048.3:c.1240+36T>C, XM_005266892.1:c.1240+36T>C, NC_000006.11:g.111995666=, XM_011535663.1:c.1561+36T>C, NC_000006.12:g.111674463=, XM_011535665.1:c.1561+36T>C, XM_005266888.1:c.1405+36T>C, XM_005266890.2:c.1396+36T>C, XM_011535667.1:c.1561+36T>C +PA166161450 rs3731722 PA24842 AOX1 NC_000002.12:200669666 1 1 0 0 0 52800969, 118082662, NC_000002.12:g.200669666=, NC_000002.11:g.201534389A>G, NP_001150.3:p.His1297=, NC_000002.12:g.200669666A>G, rs3731722, NC_000002.11:g.201534389=, 3731722, NP_001150.3:p.His1297Arg +PA166155698 rs3731885 PA24388,PA134931318 ABCB6,ATG9A NC_000002.12:219219747 1 0 0 0 0 NC_000002.12:g.219219747G>A, NC_000002.12:g.219219747=, XR_241322.1:n.3373C>T, NG_032110.1:g.4244=, NG_032110.1:g.4244C>T, NR_104255.1:n.3396C>T, XR_241277.1:n.-789C>T, NM_005689.2:c.-1074C>T, NM_024085.4:c.*700C>T, 56445265, NC_000002.11:g.220084469=, rs58321502, NC_000002.11:g.220084469G>A, XM_005246846.1:c.*700C>T, XM_005246847.1:c.*700C>T, rs3731885, rs56445265, 3731885, XM_005246842.1:c.*700C>T, XM_005246843.1:c.*700C>T, 58321502, XM_005246841.1:c.*700C>T, XM_005246844.1:c.*700C>T, XM_005246845.1:c.*700C>T, NM_001077198.2:c.*700C>T, XM_005246216.1:c.-1074C>T, XM_005246215.1:c.-1074C>T +PA166203414 rs3732179 PA34321 REL NC_000002.12:60927190 1 0 0 0 0 rs3732179, NC_000002.11:g.61154325=, 57600840, NC_000002.11:g.61154325T>A, NC_000002.12:g.60927190T>A, 13010484, NC_000002.12:g.60927190T>C, NC_000002.11:g.61154325T>C, NC_000002.12:g.60927190=, 3732179 +PA166155700 rs3732218 PA37174,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233718658 5 2 1 0 0 XR_241240.1:n.1022+24793G>A, 61384933, NM_205862.1:c.60+24793G>A, NM_019075.2:c.856-48376G>A, XR_241241.1:n.941+45869G>A, 3732218, NM_021027.2:c.855+45869G>A, NG_002601.2:g.133915=, rs3732218, rs58808341, NM_019076.4:c.856-48376G>A, rs61384933, NC_000002.11:g.234627304=, NC_000002.12:g.233718658=, NC_000002.11:g.234627304G>A, NM_001072.3:c.861+24793G>A, NM_019078.1:c.867+4800G>A, 58808341, NG_002601.2:g.133915G>A, NM_019077.2:c.855+35866G>A, NC_000002.12:g.233718658G>A, NM_007120.2:c.-163G>A, XR_241238.1:n.-107G>A +PA166155701 rs3732219 PA37174,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233718602 6 2 1 0 0 NG_002601.2:g.133859C>T, NM_021027.2:c.855+45813C>T, NM_205862.1:c.60+24737C>T, NM_019077.2:c.855+35810C>T, NM_019076.4:c.856-48432C>T, NM_019075.2:c.856-48432C>T, rs3732219, 3732219, NM_019078.1:c.867+4744C>T, rs60036812, NM_007120.2:c.-219C>T, NM_001072.3:c.861+24737C>T, XR_241241.1:n.941+45813C>T, XR_241238.1:n.-163C>T, NC_000002.11:g.234627248=, NC_000002.12:g.233718602=, NG_002601.2:g.133859=, NC_000002.12:g.233718602C>T, NC_000002.11:g.234627248C>T, XR_241240.1:n.1022+24737C>T, 60036812 +PA166156373 rs3732356 PA378 NR1I2 NC_000003.12:119810266 1 0 0 0 0 NC_000003.12:g.119810266=, NM_022002.2:c.448+72G>T, NG_011856.1:g.34783=, NM_003889.3:c.331+72G>T, NC_000003.11:g.119529113G>C, NG_011856.1:g.34783G>T, XM_005247866.1:c.166+72G>T, NC_000003.12:g.119810266G>C, NC_000003.11:g.119529113G>A, rs3732356, 3732356, 56955243, NC_000003.12:g.119810266G>A, NC_000003.12:g.119810266G>T, rs56955243, NM_033013.2:c.331+72G>T, NC_000003.11:g.119529113G>T, NG_011856.1:g.34783G>C, NC_000003.11:g.119529113=, NG_011856.1:g.34783G>A +PA166156374 rs3732359 PA378 NR1I2 NC_000003.12:119817582 3 1 0 0 0 NC_000003.12:g.119817582G>A, NM_003889.3:c.*370G>A, NM_022002.2:c.*370G>A, NC_000003.12:g.119817582=, 56590291, 3732359, rs56590291, rs3732359, XM_005247866.1:c.995+1751G>A, NG_011856.1:g.42099G>A, NM_033013.2:c.*370G>A, 57193083, NG_011856.1:g.42099=, NC_000003.11:g.119536429G>A, rs57193083, NC_000003.11:g.119536429= +PA166156375 rs3732360 PA378 NR1I2 NC_000003.12:119817734 3 1 0 0 0 NM_022002.2:c.*522C>T, 57419996, NM_003889.3:c.*522C>T, NM_033013.2:c.*522C>T, NC_000003.12:g.119817734C>T, NC_000003.11:g.119536581C>G, rs386584908, rs57419996, NG_011856.1:g.42251C>T, NC_000003.11:g.119536581C>T, XM_005247866.1:c.995+1903C>T, 386584908, NC_000003.11:g.119536581=, 3732360, NG_011856.1:g.42251=, rs3732360, NC_000003.12:g.119817734=, NC_000003.12:g.119817734C>G, NG_011856.1:g.42251C>G +PA166177853 rs3732361 PA29009 GSK3B NC_000003.12:119823450 2 0 0 0 0 NC_000003.12:g.119823450=, NG_012922.1:g.275968=, NC_000003.11:g.119542297A>G, NC_000003.11:g.119542297A>C, NG_012922.1:g.275968T>C, 17464911, NC_000003.12:g.119823450A>C, 58810379, rs3732361, 3732361, 13099647, NG_012922.1:g.275968T>G, NC_000003.12:g.119823450A>G, NC_000003.11:g.119542297= +PA166163134 rs3732759 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151357137 1 1 0 0 0 NC_000003.12:g.151357137A>G, NC_000003.12:g.151357137=, NG_021244.1:g.275250=, NG_016019.1:g.32620=, NG_016019.1:g.32620T>C, 3732759, 56569490, rs3732759, NG_021244.1:g.275250A>G, NC_000003.11:g.151074925A>G, NC_000003.11:g.151074925= +PA166179918 rs3732790 PA27479 DRD3 NC_000003.12:114128436 1 0 0 0 0 52801690, NC_000003.11:g.113847283=, NG_008842.2:g.75972=, NG_008842.2:g.75972A>G, NG_008842.2:g.75972A>T, rs3732790, 3732790, NC_000003.11:g.113847283T>A, NC_000003.12:g.114128436=, NC_000003.12:g.114128436T>C, NC_000003.12:g.114128436T>A, NC_000003.11:g.113847283T>C +PA166259561 rs3733260 PA33249 PGRMC2 NC_000004.12:128287104 1 0 0 0 0 386584941, 3733260, rs3733260, NC_000004.11:g.129208259G>C, NC_000004.11:g.129208259G>T, NC_000004.12:g.128287104=, NC_000004.12:g.128287104G>T, NC_000004.11:g.129208259=, 57151204, NC_000004.12:g.128287104G>C +PA166154670 rs373327528 PA134865839 SLCO1B1 NC_000012.12:21172776 1 0 0 0 0 373327528, NC_000012.12:g.21172776G>A, NG_011745.1:g.46583G>A, NM_006446.4:c.211G>A, NC_000012.12:g.21172776=, NC_000012.11:g.21325710G>A, rs373327528, NP_006437.3:p.Gly71=, NP_006437.3:p.Gly71Arg, NC_000012.11:g.21325710=, NG_011745.1:g.46583= +PA166289361 rs3733694 PA33042 PCDHB8 NC_000005.10:141178947 1 0 0 0 0 3733694, NP_061993.3:p.Lys305=, rs3733694, NC_000005.9:g.140558528A>G, 17096956, NC_000005.10:g.141178947=, NP_061993.3:p.Lys305Glu, NC_000005.10:g.141178947A>G, NG_000017.2:g.147080A>G, 17844492, NC_000005.9:g.140558528=, NG_000017.2:g.147080= +PA166285102 rs3733784 PA145148868,PA31277 FASTKD3,MTRR NC_000005.10:7862813 1 1 0 0 0 3733784, NC_000005.9:g.7862926=, NG_033101.1:g.11225=, rs3733784, 60895537, NC_000005.9:g.7862926T>C, NC_000005.10:g.7862813=, NC_000005.10:g.7862813T>C, NG_033101.1:g.11225A>G, 56549145 +PA166205221 rs3733829 PA27671 EGLN2 NC_000019.10:40804666 3 0 0 0 0 17713217, NC_000019.10:g.40804666A>G, NC_000019.9:g.41310571A>G, 3733829, rs3733829, NC_000019.10:g.40804666A>C, NC_000019.9:g.41310571=, NC_000019.9:g.41310571A>C, NC_000019.10:g.40804666= +PA166157077 rs3734254 PA33557 PPARD NC_000006.12:35427233 1 1 0 0 0 NM_001171820.1:c.*1154C>T, rs56760848, rs3734254, NG_012345.1:g.89676=, NC_000006.12:g.35427233C>T, XM_011514712.1:c.*1154C>T, XM_005249194.1:c.*1266C>T, NC_000006.11:g.35395010C>T, XM_011514711.1:c.*1154C>T, 56760848, NG_012345.2:g.89676C>T, NM_006238.4:c.*1154C>T, NM_001171818.1:c.*1154C>T, NG_012345.2:g.89676=, NC_000006.12:g.35427233=, NM_001171819.1:c.*1154C>T, NG_012345.1:g.89676C>T, XM_006715121.1:c.*1154C>T, NC_000006.11:g.35395010=, XM_006715120.1:c.*1154C>T, XM_011514710.1:c.*1154C>T, rs17847858, 17847858, XM_005249191.1:c.*1154C>T, XM_005249193.1:c.*1154C>T, XM_011514707.1:c.*1154C>T, 3734254, XM_011514713.1:c.*1266C>T, XM_011514709.1:c.*1154C>T, XM_005249192.1:c.*1154C>T, XM_011514708.1:c.*1154C>T, XM_006715123.1:c.*1154C>T +PA166160417 rs3734703 PA154 SLC29A1 NC_000006.12:44233997 1 0 0 0 0 58590284, NG_042893.1:g.19493C>A, rs3734703, NC_000006.11:g.44201734=, NC_000006.11:g.44201734C>A, NC_000006.12:g.44233997=, 3734703, NC_000006.12:g.44233997C>A, NG_042893.1:g.19493= +PA166179288 rs3734704 PA154 SLC29A1 NC_000006.12:44234210 1 1 0 0 0 NC_000006.11:g.44201947=, NG_042893.1:g.19706A>T, NC_000006.12:g.44234210A>T, NG_042893.1:g.19706A>C, NC_000006.12:g.44234210A>C, rs3734704, NC_000006.12:g.44234210=, NC_000006.11:g.44201947A>C, 3734704, NC_000006.11:g.44201947A>T, 386430839, NG_042893.1:g.19706= +PA166157374 rs3735273 PA140 DDC NC_000007.14:50529166 2 0 0 0 0 NG_008742.1:g.41291G>A, NM_001242887.1:c.570+42G>A, XM_011515161.1:c.219+42G>A, 10335283, XM_005271745.3:c.456+42G>A, rs3735273, XM_005271744.1:c.570+42G>A, rs11575336, NC_000007.14:g.50529166=, NG_008742.1:g.41291=, NM_001242890.1:c.570+42G>A, XM_005271745.1:c.456+42G>A, NM_001242886.1:c.456+42G>A, NM_001242889.1:c.435+8694G>A, NC_000007.13:g.50596864=, NM_000790.3:c.570+42G>A, NC_000007.14:g.50529166C>T, 3735273, 11575336, NM_001242888.1:c.336+42G>A, NM_001082971.1:c.570+42G>A, rs10335283, NC_000007.13:g.50596864C>T +PA166157375 rs3735451 PA130 CYP3A4 NC_000007.14:99758352 5 1 0 0 0 386585004, XM_011515841.1:c.1510-124A>G, NC_000007.14:g.99758352T>C, NC_000007.14:g.99758352=, NM_001202855.2:c.1414-124A>G, rs3735451, XM_011515842.1:c.1507-124A>G, NC_000007.13:g.99355975=, NC_000007.13:g.99355975T>C, 57555923, NG_008421.1:g.30834=, NM_017460.5:c.1417-124A>G, rs57555923, 3735451, rs386585004, NG_008421.1:g.30834A>G +PA166157592 rs3735814 PA28587 GATA4 NC_000008.11:11749887 3 0 0 0 0 XM_011543818.1:c.787-224G>A, 17153729, NC_000008.11:g.11749887G>A, XM_005272385.1:c.787-224G>A, XM_006716248.1:c.787-224G>A, 3735814, NC_000008.11:g.11749887=, rs17153729, XM_005272384.1:c.787-224G>A, NC_000008.10:g.11607396=, XM_005272387.1:c.166-224G>A, rs58685730, 58685730, NM_001308093.1:c.787-224G>A, NG_008177.2:g.77969=, NC_000008.10:g.11607396G>A, rs3735814, 11567386, NG_008177.2:g.77969G>A, XM_011543817.1:c.787-224G>A, XM_005272386.1:c.787-224G>A, NM_001308094.1:c.166-224G>A, XM_006716249.2:c.166-224G>A, rs11567386, XM_005272385.3:c.787-224G>A, NM_002052.4:c.784-224G>A +PA166154397 rs3736228 PA30455 LRP5 NC_000011.10:68433827 6 0 0 0 0 NP_002326.2:p.Ala1330Val, XM_005273994.2:c.3989C>T, XM_011545029.1:c.4016C>T, XR_949925.1:n.4031C>T, NC_000011.9:g.68201295C>T, 59566856, NG_015835.2:g.126188C>T, NG_015835.1:g.126188C>T, XM_011545030.1:c.4016C>T, XM_011545031.1:c.4016C>T, NM_001291902.1:c.2246C>T, XM_005273994.1:c.3989C>T, NP_002326.2:p.Ala1330=, XR_949926.1:n.4031C>T, NC_000011.10:g.68433827C>T, XP_011543332.1:p.Ala1339Val, NM_002335.3:c.3989C>T, NP_001278831.1:p.Ala749Val, XP_011543331.1:p.Ala1339Val, 17848253, rs3736228, NG_015835.1:g.126188=, 3736228, XP_011543333.1:p.Ala1339Val, rs17848253, NG_015835.2:g.126188=, XP_005274051.1:p.Ala1330Val, NC_000011.9:g.68201295=, NC_000011.10:g.68433827=, rs59566856 +PA166156574 rs3736544 PA26609,PA147357214 CLOCK,TMEM165 NC_000004.12:55443825 1 0 0 0 0 NC_000004.11:g.56309992A>G, XM_011534394.1:c.899-8414A>G, 386477969, XM_006714054.2:c.1764T>C, NC_000004.12:g.55443825A>G, NP_001254772.1:p.Asn588=, NC_000004.11:g.56309992=, XP_005265844.1:p.Asn588=, rs386477969, XP_011532713.1:p.Asn588=, XP_011532712.1:p.Asn588=, rs59665915, XM_011534411.1:c.1764T>C, XM_011534410.1:c.1764T>C, XP_011532711.1:p.Asn588=, rs3736544, 3736544, NM_001267843.1:c.1764T>C, XP_006714117.1:p.Asn588=, NM_004898.3:c.1764T>C, NP_004889.1:p.Asn588=, 59665915, XM_005265787.1:c.1764T>C, NC_000004.12:g.55443825=, XM_011534409.1:c.1764T>C +PA166156575 rs3736599 PA340 SULT1E1 NC_000004.12:69860103 1 0 0 0 0 NC_000004.11:g.70725821=, XM_011532210.1:c.-64G>A, NM_005420.2:c.-64G>A, NC_000004.11:g.70725821C>T, NC_000004.12:g.69860103=, NC_000004.12:g.69860103C>T, 57332019, rs3736599, XM_011532209.1:c.-10+642G>A, rs57332019, 3736599 +PA166153743 rs3737224 PA162399233 PEAR1 NC_000001.11:156909788 2 1 0 0 0 XP_005245199.1:p.Pro419=, XP_011507811.1:p.Pro492=, NC_000001.11:g.156909788=, rs3737224, XM_006711302.2:c.1476C>T, 3737224, XM_005245141.1:c.1449C>T, XP_011507810.1:p.Pro492=, XP_011507813.1:p.Pro448=, XM_011509510.1:c.1449C>T, NP_001340612.1:p.Pro419=, NC_000001.11:g.156909788C>T, XM_005245142.1:c.1257C>T, XM_011509509.1:c.1476C>T, NC_000001.10:g.156879580=, NM_001080471.1:c.1449C>T, XP_006711365.1:p.Pro492=, XP_011507812.1:p.Pro483=, XM_011509508.1:c.1476C>T, XM_011509512.1:c.942C>T, XM_005245141.2:c.1449C>T, NP_001073940.1:p.Pro483=, XP_011507814.1:p.Pro314=, XP_005245198.1:p.Pro483=, XM_011509511.1:c.1344C>T, NC_000001.10:g.156879580C>T +PA166207625 rs373758696 PA126 CYP2C9 NC_000010.11:94947814 1 0 0 0 0 rs373758696, NG_008385.2:g.14657G>A, NP_000762.2:p.Ala173Thr, NG_008385.2:g.14657=, NC_000010.11:g.94947814G>A, NG_008385.1:g.14157G>A, 373758696, NC_000010.10:g.96707571=, NP_000762.2:p.Ala173=, NG_008385.1:g.14157=, NC_000010.11:g.94947814=, NC_000010.10:g.96707571G>A +PA166153744 rs3737967 PA142672417,PA245 C1orf167,MTHFR NC_000001.11:11787392 1 0 0 0 0 NM_005957.4:c.*3288C>T, XM_011541275.1:c.3572G>A, XM_011541274.1:c.3572G>A, NC_000001.11:g.11787392=, XP_011539578.1:p.Arg1236His, XM_011541273.1:c.3572G>A, XP_011539582.1:p.Arg663His, NC_000001.10:g.11847449G>A, NG_013351.1:g.23712C>T, XP_011539575.1:p.Arg1191His, XP_011539569.1:p.Arg1236His, XM_011541272.1:c.3707G>A, XM_011541270.1:c.3707G>A, XM_005263461.1:c.*3288C>T, XM_005263463.1:c.*3288C>T, NP_001010881.1:p.Arg1191=, XM_011541271.1:c.3653G>A, XP_011539571.1:p.Arg1236His, XM_005263460.1:c.*3288C>T, XM_011541281.1:c.1988G>A, XP_011539572.1:p.Arg1236His, XP_011539583.1:p.Arg663His, XP_011539570.1:p.Arg1236His, XM_011541280.1:c.1988G>A, XP_011539573.1:p.Arg1218His, XM_011541276.1:c.3707G>A, NP_001010881.1:p.Arg1191His, XM_011541267.1:c.3707G>A, XM_011541277.1:c.3707G>A, XM_011541278.1:c.3707G>A, XM_011541268.1:c.3707G>A, XP_006711141.1:p.Arg1191His, XM_003118845.3:c.3572G>A, XM_011541269.1:c.3707G>A, rs386585099, XP_011539579.1:p.Arg1236His, XM_011541279.1:c.3299G>A, XP_011539574.1:p.Arg1236His, XM_005263458.1:c.*3288C>T, XP_011539581.1:p.Arg1100His, XP_003118893.3:p.Arg1191His, rs3737967, 3737967, XM_005263459.1:c.*3148C>T, NG_013351.1:g.23712=, 386585099, XM_005263462.1:c.*3288C>T, XP_011539576.1:p.Arg1191His, NC_000001.10:g.11847449=, XM_006711078.2:c.3572G>A, XP_011539577.1:p.Arg1191His, NM_001010881.1:c.3572G>A, XP_011539580.1:p.Arg1236His, NC_000001.11:g.11787392G>A +PA166153745 rs3738046 PA27829 EPHX1 NC_000001.11:225828857 1 0 0 0 0 NG_009776.1:g.23762G>C, NP_000111.1:p.Arg43=, NM_001291163.1:c.128G>C, NG_009776.1:g.23762G>A, NP_001278092.1:p.Arg43Thr, NC_000001.10:g.226016558=, 386467447, NC_000001.11:g.225828857G>A, XP_005273142.1:p.Arg43Thr, NM_001136018.3:c.128G>C, 60900310, NC_000001.11:g.225828857G>C, NM_000120.3:c.128G>C, NC_000001.11:g.225828857=, NG_009776.1:g.23762=, rs60900310, 3738046, rs3738046, rs386467447, NP_000111.1:p.Arg43Thr, XM_005273085.1:c.128G>C, NP_000111.1:p.Arg43Lys, NC_000001.10:g.226016558G>C, NP_001129490.1:p.Arg43Thr, NC_000001.10:g.226016558G>A +PA166153746 rs3738514 PA35875 SLC2A1 NC_000001.11:42960920 1 0 0 0 0 58038963, NM_006516.2:c.-2269G>A, 60110630, NC_000001.11:g.42960920C>T, 3738514, rs3738514, NR_033967.1:n.529+1343C>T, NG_008232.1:g.3257G>A, NC_000001.10:g.43426591=, NC_000001.10:g.43426591C>T, rs58038963, NG_008232.1:g.3257=, rs60110630, NC_000001.11:g.42960920= +PA166155703 rs3738883 PA36568 TMEFF2 NC_000002.12:192057530 1 0 0 0 0 NC_000002.11:g.192922256=, XM_011510890.1:c.509+149A>C, rs17431033, NC_000002.12:g.192057530T>G, NM_001305134.1:c.536+149A>C, XM_005246438.1:c.536+149A>C, rs3738883, NM_016192.3:c.536+149A>C, XM_005246437.2:c.536+149A>C, 3738883, NC_000002.12:g.192057530=, XR_923722.1:n.2057-130T>G, 17431033, XM_005246436.1:c.509+149A>C, XM_005246437.1:c.536+149A>C, NC_000002.11:g.192922256T>A, NC_000002.12:g.192057530T>A, NC_000002.11:g.192922256T>G +PA166155704 rs3738948 PA27849 ERCC3 NC_000002.12:127260487 1 1 0 0 0 NC_000002.11:g.128018063A>G, NG_007454.1:g.38690T>C, NC_000002.11:g.128018063A>C, NC_000002.11:g.128018063=, NM_001303416.1:c.1872+741T>C, rs57713975, NM_000122.1:c.2064+741T>C, XM_011510794.1:c.2082+741T>C, rs3738948, NG_007454.1:g.38690=, NC_000002.12:g.127260487A>C, 3738948, XM_005263618.1:c.1872+741T>C, NC_000002.12:g.127260487=, NC_000002.12:g.127260487A>G, XM_011510795.1:c.1626+741T>C, XM_005263619.1:c.1872+741T>C, 57713975, NG_007454.1:g.38690T>G, NM_001303418.1:c.1872+741T>C +PA166207781 rs373993395 PA126 CYP2C9 NC_000010.11:94942318 1 0 0 0 0 NC_000010.11:g.94942318=, NG_008385.2:g.9161=, NC_000010.11:g.94942318T>C, NC_000010.10:g.96702075=, NC_000010.10:g.96702075T>C, NG_008385.1:g.8661T>G, NG_008385.2:g.9161T>G, 373993395, NC_000010.10:g.96702075T>G, NG_008385.1:g.8661T>C, NP_000762.2:p.Val153=, NP_000762.2:p.Val153Ala, NG_008385.1:g.8661=, NP_000762.2:p.Val153Gly, rs373993395, NC_000010.11:g.94942318T>G, NG_008385.2:g.9161T>C +PA166181275 rs3740063 PA116 ABCC2 NC_000010.11:99850966 1 0 0 0 0 rs3740063, NC_000010.10:g.101610723A>C, NG_011798.1:g.73261A>C, NG_011798.2:g.73369=, 3740063, NC_000010.11:g.99850966=, 17580392, NC_000010.10:g.101610723=, NG_011798.1:g.73261A>G, NG_011798.2:g.73369A>C, NG_011798.2:g.73369A>G, NC_000010.11:g.99850966A>G, NG_011798.1:g.73261=, NC_000010.11:g.99850966A>C, NC_000010.10:g.101610723A>G +PA166154027 rs3740065 PA116 ABCC2 NC_000010.11:99845936 11 4 0 0 0 rs386585170, NG_011798.2:g.68339A>G, rs3740065, 3740065, NC_000010.10:g.101605693=, XM_006717630.2:c.3450+154A>G, NC_000010.11:g.99845936=, NG_011798.1:g.68231A>G, XM_005269536.1:c.3867+154A>G, XR_945604.1:n.4276+154A>G, rs61012324, NG_011798.2:g.68339=, NC_000010.11:g.99845936A>G, NG_011798.1:g.68231=, NC_000010.10:g.101605693A>G, 386585170, 61012324, NM_000392.4:c.4146+154A>G, XR_945605.1:n.4210+154A>G +PA166154028 rs3740066 PA116 ABCC2 NC_000010.11:99844450 41 6 0 0 0 rs17216303, NC_000010.10:g.101604207=, XM_005269536.1:c.3693C>T, NG_011798.1:g.66745=, rs12780340, 17216303, NG_011798.2:g.66853C>T, XR_945605.1:n.4036C>T, 12780340, NC_000010.11:g.99844450C>T, NC_000010.10:g.101604207C>G, NG_011798.2:g.66853C>G, 59292214, NG_011798.1:g.66745C>G, XM_006717630.2:c.3276C>T, rs3740066, NC_000010.11:g.99844450C>G, NP_000383.2:p.Ile1324=, NM_000392.4:c.3972C>T, NC_000010.10:g.101604207C>T, XP_005269593.1:p.Ile1231=, XP_006717693.1:p.Ile1092=, rs59292214, NG_011798.2:g.66853=, NP_000383.1:p.Ile1324=, NG_011798.1:g.66745C>T, NC_000010.11:g.99844450=, XR_945604.1:n.4161C>T, 3740066, NP_000383.2:p.Ile1324Met +PA166154029 rs3740067 PA116 ABCC2 NC_000010.11:99844024 1 0 0 0 0 XM_005269536.1:c.3564+124C>G, XM_006717630.2:c.3147+124C>G, XR_945605.1:n.3907+124C>G, rs60605877, NG_011798.1:g.66319=, NG_011798.1:g.66319C>G, NC_000010.10:g.101603781C>G, NM_000392.4:c.3843+124C>G, NG_011798.2:g.66427=, NC_000010.10:g.101603781=, NC_000010.11:g.99844024C>G, XR_945604.1:n.4032+124C>G, 3740067, 60605877, NG_011798.2:g.66427C>G, rs3740067, NC_000010.11:g.99844024= +PA166181274 rs3740074 PA116 ABCC2 NC_000010.11:99811771 1 0 0 0 0 rs3740074, NG_011798.1:g.34066=, 3740074, NC_000010.11:g.99811771C>T, NC_000010.10:g.101571528C>T, NG_011798.2:g.34174C>T, NG_011798.2:g.34174=, NG_011798.1:g.34066C>T, NC_000010.11:g.99811771=, NC_000010.10:g.101571528= +PA166161519 rs3740085 PA35602 CXCL12 NC_000010.11:44372321 1 0 0 0 0 rs3740085, NG_016861.1:g.17777=, 17880497, 3740085, NG_016861.2:g.17777G>T, NG_016861.1:g.17777G>C, NC_000010.10:g.44867769C>A, 17482901, NC_000010.10:g.44867769=, NC_000010.10:g.44867769C>G, NC_000010.11:g.44372321C>G, NG_016861.1:g.17777G>T, NG_016861.2:g.17777=, NG_016861.2:g.17777G>C, NC_000010.11:g.44372321=, NC_000010.11:g.44372321C>A +PA166179113 rs3740387 PA26669,PA31801 CNNM2,NT5C2 NC_000010.11:103089711 2 0 0 0 0 17795342, NC_000010.11:g.103089711G>C, NC_000010.11:g.103089711=, NC_000010.11:g.103089711G>A, NP_036361.1:p.Asp549=, NG_042272.1:g.108596=, NG_042272.1:g.108596C>T, NC_000010.10:g.104849468G>C, NC_000010.10:g.104849468G>A, NG_042272.1:g.108596C>G, NC_000010.10:g.104849468=, 3740387, NP_036361.1:p.Asp549Glu, rs3740387 +PA166324121 rs3740390 PA134896392 AS3MT NC_000010.11:102878723 1 0 0 0 0 NC_000010.11:g.102878723=, 3740390, 117712275, 17880158, 59934213, NC_000010.10:g.104638480C>T, rs3740390, 17882930, NC_000010.11:g.102878723C>T, NC_000010.10:g.104638480= +PA166324123 rs3740393 PA134896392 AS3MT NC_000010.11:102876898 1 0 0 0 0 rs3740393, NC_000010.10:g.104636655G>T, 3740393, 59228371, NC_000010.10:g.104636655=, 17879051, NC_000010.11:g.102876898=, NC_000010.11:g.102876898G>C, 17885475, NC_000010.10:g.104636655G>C, NC_000010.11:g.102876898G>T +PA166154030 rs3740556 PA27699 EIF3A NC_000010.11:119080683 3 1 0 0 0 NC_000010.11:g.119080683=, NG_056305.1:g.47G>A, rs3740556, XM_005270260.1:c.-357C>T, NC_000010.11:g.119080683G>A, NG_056305.1:g.47=, NC_000010.10:g.120840195=, NM_003750.2:c.-7C>T, 3740556, NC_000010.10:g.120840195G>A, XM_005270259.1:c.-7C>T +PA166274202 rs3740563 PA180 GRK5 NC_000010.11:119335888 1 1 0 0 0 NC_000010.10:g.121095400A>C, NC_000010.11:g.119335888=, NC_000010.11:g.119335888A>C, 57747867, 3740563, rs3740563, NC_000010.10:g.121095400= +PA166171163 rs3740615 PA28001,PA28580 FANCF,GAS2 NC_000011.10:22625820 1 0 0 0 0 NC_000011.9:g.22647366G>T, NG_007425.1:g.5022C>T, NC_000011.10:g.22625820G>C, 58681085, NG_007425.1:g.5022=, NC_000011.9:g.22647366G>C, 3740615, NC_000011.9:g.22647366G>A, rs3740615, NG_007425.1:g.5022C>A, NC_000011.10:g.22625820G>T, NC_000011.10:g.22625820G>A, NC_000011.10:g.22625820=, NG_007425.1:g.5022C>G, NC_000011.9:g.22647366= +PA166154398 rs3740751 PA266 PGR NC_000011.10:101030868 1 0 0 0 0 NM_001271162.1:c.*8248C>T, NC_000011.10:g.101030868=, NC_000011.9:g.100901599=, NR_073141.2:n.10991C>T, NM_000926.4:c.*8248C>T, NR_073142.2:n.10874C>T, NG_016475.1:g.103946C>G, NG_016475.1:g.103946=, NC_000011.9:g.100901599G>A, NG_016475.1:g.103946C>T, NM_001271161.2:c.*8248C>T, NC_000011.9:g.100901599G>C, 3740751, NC_000011.10:g.101030868G>A, NR_073143.2:n.10606C>T, NC_000011.10:g.101030868G>C, rs3740751, NM_001202474.3:c.*8248C>T +PA166290051 rs374099483 PA123 CYP2B6 NC_000019.10:41016679 2 0 0 0 0 NP_000758.1:p.Arg443His, NG_007929.1:g.30381G>A, 374099483, NC_000019.9:g.41522584=, NC_000019.9:g.41522584G>A, NG_007929.1:g.30381=, NP_000758.1:p.Arg443=, NC_000019.10:g.41016679G>A, rs374099483, NC_000019.10:g.41016679= +PA166153939 rs374150125 PA31799 NT5C1A NC_000001.11:39663330 2 1 0 0 0 NP_115915.1:p.Arg180Ter, NC_000001.11:g.39663330G>C, NC_000001.11:g.39663330G>A, NC_000001.10:g.40129002G>A, NC_000001.11:g.39663330=, NC_000001.10:g.40129002G>C, NM_032526.2:c.538C>T, NC_000001.10:g.40129002=, rs374150125, 374150125, NP_115915.1:p.Arg180Gly, NP_115915.1:p.Arg180= +PA166154713 rs3742106 PA397 ABCC4 NC_000013.11:95021537 7 2 0 0 0 XM_005254027.1:c.*38T>G, NC_000013.11:g.95021537A>T, NC_000013.10:g.95673791A>T, XM_005254025.2:c.*38T>G, rs17300668, NM_001301829.1:c.*38T>G, XM_005254026.1:c.*38T>G, NG_050651.1:g.284910T>G, NM_005845.4:c.*38T>G, NC_000013.10:g.95673791A>C, NC_000013.11:g.95021537=, NG_050651.1:g.284910T>A, NC_000013.11:g.95021537A>C, NG_050651.1:g.284910=, XM_011521047.1:c.*38T>G, NC_000013.10:g.95673791=, rs3742106, 3742106, 17300668, XM_005254025.1:c.*38T>G, XM_006719914.1:c.*38T>G +PA166294081 rs3742278 PA193 HTR2A NC_000013.11:46845442 1 0 0 0 0 61703500, NG_013011.1:g.56593=, NC_000013.11:g.46845442=, NC_000013.10:g.47419577A>G, NC_000013.10:g.47419577=, NC_000013.11:g.46845442A>G, rs3742278, 3742278, NG_013011.1:g.56593T>C +PA166277241 rs3742879 PA24948,PA134861090 ARG2,VTI1B NC_000014.9:67648284 1 0 0 0 0 NC_000014.8:g.68115001=, 3742879, NC_000014.8:g.68115001A>C, 56677002, NG_011964.1:g.33423A>G, NG_011964.1:g.33423=, rs3742879, NC_000014.9:g.67648284A>C, NC_000014.8:g.68115001A>G, NG_011964.1:g.33423A>C, NC_000014.9:g.67648284A>G, NC_000014.9:g.67648284= +PA166185408 rs3743074 PA113 CHRNA3 NC_000015.10:78617138 2 0 0 0 0 386585266, 58083879, rs3743074, NC_000015.9:g.78909480G>A, 3743074, NC_000015.10:g.78617138=, NG_016143.1:g.9158=, NG_016143.1:g.9158C>A, NC_000015.10:g.78617138G>T, NC_000015.10:g.78617138G>A, NC_000015.9:g.78909480=, NG_016143.1:g.9158C>T, NC_000015.9:g.78909480G>T, 17696648 +PA166185407 rs3743075 PA113 CHRNA3 NC_000015.10:78617110 2 1 0 0 0 NG_016143.1:g.9186A>T, NC_000015.10:g.78617110=, NG_016143.1:g.9186=, 3743075, 58702470, rs3743075, 17849512, NP_000734.2:p.Lys97=, NC_000015.9:g.78909452T>C, 17849331, NG_016143.1:g.9186A>G, 117584964, NC_000015.9:g.78909452=, NC_000015.9:g.78909452T>A, NC_000015.10:g.78617110T>A, NC_000015.10:g.78617110T>C, NP_000734.2:p.Lys97Asn, 17696636, 17849708 +PA166185480 rs3743077 PA113 CHRNA3 NC_000015.10:78602554 2 0 0 0 0 3743077, NC_000015.10:g.78602554=, rs3743077, 58140623, NC_000015.9:g.78894896=, NC_000015.9:g.78894896C>T, NG_016143.1:g.23742=, NG_016143.1:g.23742G>A, NC_000015.10:g.78602554C>T +PA166154901 rs3743078 PA113 CHRNA3 NC_000015.10:78602417 1 1 0 0 0 rs3743078, 3743078, NM_000743.4:c.378-153G>C, NC_000015.9:g.78894759C>A, NG_016143.1:g.23879G>C, NM_001166694.1:c.378-153G>C, NC_000015.9:g.78894759C>G, XM_011521173.1:c.297-153G>C, NC_000015.9:g.78894759=, NG_016143.1:g.23879=, NR_046313.1:n.879-153G>C, NC_000015.10:g.78602417=, NG_016143.1:g.23879G>T, NC_000015.10:g.78602417C>A, XM_006720382.1:c.177-153G>C, NC_000015.10:g.78602417C>G +PA166154902 rs3743484 PA27093 CYP1A2 NC_000015.10:74752059 1 0 0 0 0 NC_000015.9:g.75044400G>C, 3743484, rs3743484, NG_008431.1:g.34518G>C, NG_061543.1:g.8215G>C, NC_000015.10:g.74752059=, NG_008431.2:g.34518=, NC_000015.10:g.74752059G>C, NG_061543.1:g.8215=, NC_000015.9:g.75044400=, NG_008431.2:g.34518G>C, NM_000761.3:c.1043-65G>C, NM_000761.4:c.1043-65G>C +PA166155049 rs3743527 PA244 ABCC1 NC_000016.10:16141824 3 1 0 0 0 NG_028268.1:g.197248=, NC_000016.10:g.16141824C>T, 386585277, XM_005255328.1:c.*543C>T, NC_000016.10:g.16141824=, XM_005255327.1:c.*543C>T, XM_005255326.1:c.*543C>T, NG_028268.1:g.197248C>T, 57742638, NG_028268.2:g.197248C>T, XM_011522497.1:c.*543C>T, NC_000016.9:g.16235681C>T, XR_933134.1:n.-1929C>T, NT_187607.1:g.1799715C>T, XM_011522498.1:c.*543C>T, rs386585277, XR_951923.1:n.-1959C>T, 3743527, rs3743527, NC_000016.9:g.16235681=, NG_028268.2:g.197248=, NM_004996.3:c.*543C>T, XM_005255329.1:c.*543C>T, rs57742638 +PA166170795 rs3743773 NC_000016.10:53044095 1 0 0 0 0 rs3743773, NC_000016.9:g.53078007=, NC_000016.9:g.53078007G>A, NC_000016.10:g.53044095G>A, NC_000016.10:g.53044095=, 58966069, 3743773, 17300944 +PA166155213 rs3744311 NC_000017.11:72411715 1 0 0 0 0 rs3744311, NC_000017.11:g.72411715=, NC_000017.10:g.70407856=, 3744311, NC_000017.10:g.70407856C>G, 59108493, rs59108493, NC_000017.11:g.72411715C>G, NR_036488.1:n.763-6899G>A, NC_000017.11:g.72411715C>T, NC_000017.10:g.70407856C>T +PA166155214 rs3744741 PA28646 GEMIN4 NC_000017.11:745992 1 0 0 0 0 NP_056536.2:p.Arg684Gln, NG_046938.1:g.11881=, XP_005256727.1:p.Arg673Gln, NP_056536.2:p.Arg684=, XM_005256669.1:c.2018G>A, XM_011523910.1:c.2063G>A, XP_011522212.1:p.Arg688Gln, XM_005256670.3:c.2018G>A, rs56482056, XP_005256725.1:p.Arg688Gln, XM_011523913.1:c.2018G>A, 56482056, XP_011522215.1:p.Arg673Gln, NG_046938.1:g.11881G>A, XM_005256668.3:c.2063G>A, NC_000017.11:g.745992C>T, XM_005256667.3:c.2063G>A, XM_005256668.1:c.2063G>A, rs3744741, XP_005256724.1:p.Arg688Gln, XM_005256667.1:c.2063G>A, NC_000017.11:g.745992=, NC_000017.10:g.649232C>T, rs59343482, NC_000017.10:g.649232=, XP_011522213.1:p.Arg688Gln, XM_011523912.1:c.2018G>A, XM_005256670.1:c.2018G>A, XM_011523911.1:c.2063G>A, NM_015721.2:c.2051G>A, XP_011522214.1:p.Arg673Gln, XP_005256726.1:p.Arg673Gln, 3744741, 59343482 +PA166155291 rs3745009 PA35811 SLC14A2 NC_000018.10:45682394 2 1 0 0 0 NM_001242692.1:c.2638G>A, NP_001229621.1:p.Ala880Thr, NP_009094.3:p.Ala880Thr, NC_000018.10:g.45682394=, NG_011775.4:g.370G>A, rs58066525, rs52819242, NC_000018.9:g.43262359=, NC_000018.10:g.45682394G>A, NC_000018.9:g.43262359G>A, XP_011524518.1:p.Ala880Thr, NP_009094.3:p.Ala880=, NG_011775.4:g.370=, NM_007163.3:c.2638G>A, 3745009, XM_011526216.1:c.2638G>A, XM_011526217.1:c.2503G>A, rs3745009, 58066525, XP_011524519.1:p.Ala835Thr, 52819242 +PA166262043 rs374515279 PA121 CYP2A6 NC_000019.10:40849970 1 1 0 0 0 NC_000019.9:g.41355875C>A, NC_000019.10:g.40849970=, NG_008377.1:g.5478=, NP_000753.3:p.Arg64His, 374515279, NP_000753.3:p.Arg64=, NC_000019.9:g.41355875=, NP_000753.3:p.Arg64Leu, rs374515279, NG_008377.1:g.5478G>T, NC_000019.10:g.40849970C>A, NC_000019.9:g.41355875C>T, NC_000019.10:g.40849970C>T, NG_008377.1:g.5478G>A +PA166157547 rs374527 PA34635 RP1 NC_000008.11:54638367 1 0 0 0 0 NC_000008.11:g.54638367=, rs374527, NC_000008.10:g.55550927G>T, XM_005251278.1:c.218-10618G>T, NC_000008.11:g.54638367G>T, 374527, NC_000008.10:g.55550927= +PA166319223 rs374527058 PA145 DPYD NC_000001.11:97450207 1 1 0 0 0 NC_000001.11:g.97450207=, NP_000101.2:p.Val586Ala, NG_008807.2:g.475853=, 374527058, NC_000001.10:g.97915763A>G, NC_000001.10:g.97915763=, NG_008807.2:g.475853T>C, NP_000101.2:p.Val586=, rs374527058, NC_000001.11:g.97450207A>G +PA166155409 rs3745274 PA27103,PA123 CYP2A7P1,CYP2B6 NC_000019.10:41006936 352 36 21 0 4 XP_011524849.1:p.Gln172His, NC_000019.10:g.41006936G>T, XM_011526550.1:c.364+2490G>T, XM_005258569.1:c.516G>T, XP_005258626.1:p.Gln172His, NP_000758.1:p.Gln172His, XP_005258627.1:p.Gln172His, XM_011526546.1:c.516G>T, NC_000019.10:g.41006936G>A, XP_006723113.1:p.Gln172His, 57685583, NG_007929.1:g.20638G>A, XM_011526548.1:c.484+2490G>T, rs57685583, NC_000019.9:g.41512841=, XM_005258570.1:c.516G>T, XM_005258571.1:c.364+2490G>T, NC_000019.10:g.41006936=, NC_000019.9:g.41512841G>A, XM_011526549.1:c.-75-1G>T, XM_011526547.1:c.516G>T, rs3745274, 3745274, NG_007929.1:g.20638G>T, NM_000767.4:c.516G>T, NG_007929.1:g.20638=, 56308434, XM_006723050.2:c.516G>T, NC_000019.9:g.41512841G>T, XM_005258569.3:c.516G>T, NP_000758.1:p.Gln172=, XP_011524848.1:p.Gln172His, rs56308434 +PA166267586 rs3745276 NC_000019.10:41025920 1 0 0 0 0 3745276, NC_000019.10:g.41025920A>C, rs3745276, NC_000019.10:g.41025920=, NC_000019.9:g.41531825A>T, NC_000019.9:g.41531825A>G, NG_029327.2:g.2444T>C, NC_000019.9:g.41531825=, NG_029327.2:g.2444T>G, NC_000019.10:g.41025920A>T, NC_000019.9:g.41531825A>C, NG_029327.2:g.2444T>A, NG_029327.2:g.2444=, NC_000019.10:g.41025920A>G, 59544290 +PA166185411 rs3746124 PA33329 PIP5K1C NC_000019.10:3632597 1 0 0 0 0 rs3746124, 3746124, 386495592, NC_000019.10:g.3632597=, NG_012161.1:g.72851G>A, NC_000019.9:g.3632595C>G, NC_000019.9:g.3632595C>T, NG_012161.2:g.72851=, NG_012161.2:g.72851G>A, NC_000019.10:g.3632597C>G, NG_012161.2:g.72851G>C, 57176742, NC_000019.9:g.3632595=, NG_012161.1:g.72851G>C, NC_000019.10:g.3632597C>T, NG_012161.1:g.72851= +PA166156252 rs374616348 PA128 CYP2D6 NC_000022.11:42129183 3 1 1 0 0 XM_011529968.1:c.355G>A, XM_011547756.1:c.-852C>A, XM_011529971.1:c.212G>T, XM_011548819.1:c.56G>T, XM_011529972.1:c.355G>T, NP_000097.3:p.Val119=, XM_005278354.1:c.56G>A, XM_005278354.3:c.56G>T, NW_004504305.1:g.51510C>T, NC_000022.11:g.42129183C>A, XP_011528268.1:p.Val119Leu, XP_011547121.1:p.Gly19Asp, XM_011529969.1:c.212G>T, XR_952745.1:n.1512G>T, NC_000022.10:g.42525185=, XP_011528274.1:p.Val119Met, NT_187682.1:g.51524C>A, XM_011547756.1:c.-852C>T, NP_000097.3:p.Val119Met, NC_000022.10:g.42525185C>T, XM_011547750.1:c.212G>A, XP_011547121.1:p.Gly19Val, XM_011529969.1:c.212G>A, NT_187682.1:g.51524C>T, XP_011545843.1:p.Gly19Val, XM_011529966.1:c.355G>A, XP_011528269.1:p.Val119Met, NG_008376.3:g.5809G>A, NW_004504305.1:g.51510C>A, XM_011547541.1:c.56G>A, NC_000022.10:g.42525185C>A, XM_005278353.1:c.363-240G>T, XM_011529971.1:c.212G>A, XM_011548819.1:c.56G>A, XM_005278354.1:c.56G>T, XM_005278354.3:c.56G>A, 374616348, NC_000022.11:g.42129183C>T, XM_011547541.1:c.56G>T, XP_011528270.1:p.Val119Met, XP_011546052.1:p.Gly71Asp, NM_000106.5:c.355G>A, XP_011546053.1:p.Val47Leu, NG_008376.3:g.5809G>T, XP_011528271.1:p.Gly71Asp, NM_001025161.2:c.353-239G>A, XP_005278411.1:p.Gly19Asp, XP_011528268.1:p.Val119Met, XP_011528273.1:p.Gly71Asp, NG_008376.4:g.6628G>A, XP_011528274.1:p.Val119Leu, NM_000106.5:c.355G>T, XP_011546052.1:p.Gly71Val, XM_011529967.1:c.355G>A, XM_011547751.1:c.139G>A, NM_001025161.2:c.353-239G>T, XM_005278353.1:c.363-240G>A, XM_011529966.1:c.355G>T, XM_011529970.1:c.353-239G>A, XP_011545843.1:p.Gly19Asp, XR_430455.2:n.-688C>T, NP_000097.3:p.Val119Leu, NG_008376.4:g.6628G>T, NG_008376.3:g.5809=, NG_008376.4:g.6628=, NW_009646208.1:g.14749C>A, XM_011547751.1:c.139G>T, XP_011528271.1:p.Gly71Val, rs374616348, XP_011528269.1:p.Val119Leu, XP_005278411.1:p.Gly19Val, XM_011529967.1:c.355G>T, XM_011529970.1:c.353-239G>T, XM_011547750.1:c.212G>T, XP_011528273.1:p.Gly71Val, XR_952745.1:n.1512G>A, NC_000022.11:g.42129183=, XM_011529968.1:c.355G>T, XR_430455.2:n.-688C>A, XM_011529972.1:c.355G>A, XP_011528270.1:p.Val119Leu, NW_009646208.1:g.14749C>T, XP_011546053.1:p.Val47Met +PA166155936 rs3746444 PA164722745,PA31375 MIR499A,MYH7B NC_000020.11:34990448 1 0 0 0 0 XM_005260473.1:c.1941+138A>G, XM_011528941.1:c.2127+138A>G, NG_016984.2:g.39548A>C, NG_016984.2:g.39548A>G, XM_011528945.1:c.1557+138A>G, NR_039912.1:n.25T>C, XM_006723840.2:c.2103+138A>G, XM_011528942.1:c.2127+138A>G, XM_011528948.1:c.1350+138A>G, NR_030223.1:n.73A>G, 3746444, NC_000020.11:g.34990448A>C, rs3746444, NC_000020.11:g.34990448A>G, NC_000020.11:g.34990448=, rs386585341, XM_011528946.1:c.1545+138A>G, NM_020884.4:c.2103+138A>G, NC_000020.10:g.33578251A>G, XM_011528947.1:c.1350+138A>G, NC_000020.10:g.33578251=, XM_005260472.1:c.2103+138A>G, XM_011528944.1:c.2028+138A>G, NC_000020.10:g.33578251A>C, NG_016984.2:g.39548=, XM_011528943.1:c.2067+138A>G, 386585341, XM_011528950.1:c.2127+138A>G +PA166155937 rs3746544 PA35980 SNAP25 NC_000020.11:10306436 5 0 0 0 0 NC_000020.10:g.10287084G>T, NC_000020.11:g.10306436G>T, NG_029626.1:g.92608G>A, NG_029626.1:g.92608G>C, NC_000020.11:g.10306436=, NM_003081.3:c.*239G>T, NC_000020.10:g.10287084=, XM_005260810.1:c.*239G>T, XM_005260810.3:c.*239G>T, XM_005260811.1:c.*239G>T, XM_005260812.1:c.*239G>T, rs3746544, 3746544, rs17521224, NC_000020.11:g.10306436G>C, NC_000020.10:g.10287084G>C, NC_000020.10:g.10287084G>A, NG_029626.1:g.92608G>T, NG_029626.1:g.92608=, NM_130811.2:c.*239G>T, XM_005260808.3:c.*239G>T, NC_000020.11:g.10306436G>A, XM_005260808.1:c.*239G>T, XM_005260809.1:c.*239G>T, 17521224 +PA166155938 rs3746574 PA29349 HNF4A NC_000020.11:44429378 1 1 0 0 0 3746574, NM_001287182.1:c.1178-145T>C, rs3746574, NM_000457.4:c.1283-145T>C, NM_001287183.1:c.1208-145T>C, NC_000020.11:g.44429378=, NG_009818.1:g.78578=, XM_005260407.2:c.1400-145T>C, XM_005260407.1:c.1400-145T>C, NC_000020.10:g.43058018T>C, NC_000020.11:g.44429378T>C, NM_001030003.2:c.1187-145T>C, NM_001258355.1:c.1262-145T>C, 17756030, NM_175914.4:c.1217-145T>C, NM_178849.2:c.1253-145T>C, XM_011528797.1:c.1301-145T>C, rs17756030, NC_000020.10:g.43058018=, NG_009818.1:g.78578T>C, XM_011528798.1:c.1331-145T>C +PA166204301 rs3747178 PA26011 CACNA1I NC_000022.11:39570851 1 0 0 0 0 NC_000022.11:g.39570851C>T, NC_000022.11:g.39570851=, NC_000022.10:g.39966856=, rs3747178, 3747178, NP_066919.2:p.Ser33=, NC_000022.10:g.39966856C>T, NG_052947.1:g.5099C>T, 60916554, NG_052947.1:g.5099= +PA166157377 rs3747802 PA267,PA162402278 ABCB1,RUNDC3B NC_000007.14:87713270 1 0 0 0 0 XM_005250157.1:c.116+2615A>G, XM_011515827.1:c.509+2615A>G, 61084035, NC_000007.13:g.87342586A>G, XM_005250158.1:c.98+2615A>G, NG_011513.1:g.4979=, XM_005250158.2:c.98+2615A>G, NC_000007.13:g.87342586A>C, NM_001134405.1:c.458+2615A>G, NC_000007.13:g.87342586=, XM_005250156.1:c.458+2615A>G, NC_000007.14:g.87713270A>G, NG_011513.1:g.4979T>C, NC_000007.14:g.87713270A>C, rs3747802, XM_011515828.1:c.116+2615A>G, 3747802, NM_000927.4:c.-440T>C, NG_011513.1:g.4979T>G, XM_011515829.1:c.116+2615A>G, NM_138290.2:c.509+2615A>G, NM_001134406.1:c.458+2615A>G, XM_011515826.1:c.509+2615A>G, NC_000007.14:g.87713270=, XM_005250156.2:c.458+2615A>G, rs61084035 +PA166203403 rs3748022 PA134962294 IKBKE NC_000001.11:206496132 2 1 0 0 0 NC_000001.11:g.206496132C>T, 61028264, NC_000001.10:g.206669465=, NP_054721.1:p.Pro713=, NC_000001.10:g.206669465C>T, 3748022, rs3748022, NP_054721.1:p.Pro713Leu, NC_000001.11:g.206496132=, 17434096 +PA166319205 rs374825099 PA145 DPYD NC_000001.11:97234964 1 1 0 0 0 rs374825099, NC_000001.11:g.97234964G>C, NG_008807.2:g.691096=, 374825099, NC_000001.10:g.97700520=, NP_000101.2:p.Ala777Gly, NC_000001.10:g.97700520G>C, NC_000001.11:g.97234964G>T, NC_000001.11:g.97234964=, NP_000101.2:p.Ala777=, NG_008807.2:g.691096C>A, NC_000001.10:g.97700520G>T, NP_000101.2:p.Ala777Asp, NG_008807.2:g.691096C>G +PA166319182 rs374827081 PA145 DPYD NC_000001.11:97699510 1 0 0 0 0 NC_000001.11:g.97699510=, NC_000001.11:g.97699510G>T, NC_000001.10:g.98165066G>C, NP_000101.2:p.Pro174=, NP_000101.2:p.Pro174His, 374827081, NG_008807.2:g.226550C>A, NG_008807.2:g.226550C>G, NC_000001.10:g.98165066=, NP_000101.2:p.Pro174Arg, NG_008807.2:g.226550=, NC_000001.11:g.97699510G>C, NC_000001.10:g.98165066G>T, rs374827081 +PA166153747 rs3748631 PA162376104,PA142672509 AIDA,BROX NC_000001.11:222713246 1 0 0 0 0 NC_000001.11:g.222713246G>A, NM_001288579.1:c.-17+304G>A, 3748631, rs3748631, NC_000001.10:g.222886588G>A, NC_000001.10:g.222886588=, XM_005273232.1:c.-465C>T, NC_000001.11:g.222713246=, XM_011509214.1:c.-2040G>A, XM_005273067.1:c.-28G>A, XM_011509213.1:c.-28G>A, XM_005273069.3:c.-65+304G>A, XM_005273069.1:c.-65+304G>A, rs17532400, XM_011509212.1:c.-28G>A, 17532400, NM_022831.2:c.-929C>T, NR_109927.1:n.390+304G>A, XR_247034.1:n.-515C>T, XM_005273065.1:c.-28G>A, NM_001288580.1:c.-187G>A, XM_005273065.2:c.-187G>A, XM_011509215.1:c.-187G>A, NC_000001.11:g.222713246G>T, NC_000001.10:g.222886588G>T, XM_005273068.1:c.-17+304G>A, XM_006711173.2:c.-46+304G>A, XR_921909.1:n.-345C>T, NM_001288581.1:c.-187G>A, NM_144695.3:c.-17+304G>A, XM_005273066.1:c.-28G>A +PA166205744 rs3749034 PA28507 GAD1 NC_000002.12:170816965 1 1 0 0 0 NG_021477.1:g.5276=, NG_021477.1:g.5276G>A, NC_000002.11:g.171673475=, NC_000002.11:g.171673475G>T, 3749034, NG_021477.1:g.5276G>C, NC_000002.11:g.171673475G>A, NC_000002.12:g.170816965G>C, NC_000002.12:g.170816965G>A, NG_021477.1:g.5276G>T, rs3749034, NC_000002.11:g.171673475G>C, NC_000002.12:g.170816965G>T, 59699485, NC_000002.12:g.170816965= +PA166268445 rs3749187 PA38544 ZDHHC3 NC_000003.12:44945082 1 1 0 0 0 NC_000003.11:g.44986574=, NC_000003.12:g.44945082G>A, NC_000003.11:g.44986574G>A, rs3749187, 3749187, NC_000003.12:g.44945082= +PA166156376 rs3749438 PA395 ABCC5 NC_000003.12:183987396 1 1 0 0 0 117658700, XM_005247060.1:c.591+374C>T, 60372003, NM_001320032.1:c.-941+374C>T, 17218232, XM_005247058.3:c.591+374C>T, NC_000003.11:g.183705184=, XM_011512315.1:c.591+374C>T, NC_000003.12:g.183987396=, NG_047115.1:g.35615C>T, NM_005688.3:c.591+374C>T, XM_011512316.1:c.-941+374C>T, XM_005247059.1:c.591+374C>T, rs117658700, rs17218232, XM_011512314.1:c.591+374C>T, rs60372003, XM_005247059.3:c.591+374C>T, NM_001023587.2:c.591+374C>T, XM_005247062.1:c.-941+374C>T, XM_005247058.1:c.591+374C>T, NG_047115.1:g.35615=, XM_005247061.1:c.591+374C>T, NR_135125.1:n.777+374C>T, NC_000003.11:g.183705184G>A, rs3749438, NC_000003.12:g.183987396G>A, 3749438 +PA166159618 rs3749442 PA395 ABCC5 NC_000003.12:183942797 4 0 0 0 0 NG_047115.1:g.80214C>T, NC_000003.11:g.183660585G>A, NC_000003.12:g.183942797G>A, 3749442, rs3749442, NC_000003.11:g.183660585=, 17683036, 57301790, NC_000003.12:g.183942797=, NP_005679.2:p.Leu1208=, NG_047115.1:g.80214= +PA166156576 rs3749598 PA134978045 FSTL5 NC_000004.12:161386160 2 0 0 0 0 NM_001128427.2:c.2128G>T, rs52795466, 17337120, NC_000004.11:g.162307312=, NC_000004.12:g.161386160C>T, 3749598, NC_000004.11:g.162307312C>A, NM_020116.4:c.2131G>T, rs17337120, NC_000004.12:g.161386160C>A, XP_011530428.1:p.Asp702Tyr, 52795466, NP_064501.2:p.Asp711=, NP_001121899.1:p.Asp710Tyr, NP_064501.2:p.Asp711Tyr, XM_011532126.1:c.2104G>T, NP_001121900.1:p.Asp701Tyr, 60151024, rs3749598, NC_000004.11:g.162307312C>T, NP_064501.2:p.Asp711Asn, rs60151024, NC_000004.12:g.161386160=, NM_001128428.2:c.2101G>T +PA166157378 rs3750117 PA31802 NT5C3A NC_000007.14:33021334 2 2 0 0 0 3750117, 17851350, NM_001002010.2:c.393T>C, NC_000007.13:g.33060946A>G, rs11547832, NM_016489.12:c.276T>C, XP_011513711.1:p.Tyr80=, NC_000007.14:g.33021334=, NC_000007.13:g.33060946A>C, NG_015800.1:g.46464T>C, rs3750117, NG_015800.1:g.46464T>A, NP_057573.2:p.Tyr92=, NP_001002009.1:p.Tyr92=, NG_015800.1:g.46464=, XM_011515409.1:c.240T>C, NC_000007.13:g.33060946=, NC_000007.14:g.33021334A>G, NP_001002010.1:p.Tyr131=, NC_000007.14:g.33021334A>C, NP_057573.2:p.Tyr92Ter, 11547832, NC_000007.13:g.33060946A>T, rs17851350, 57965368, NC_000007.14:g.33021334A>T, NG_015800.1:g.46464T>G, NP_001159590.1:p.Tyr80=, NM_001166118.2:c.240T>C, NM_001002009.2:c.276T>C, rs57965368 +PA166161971 rs3750425 PA38479 TRPM6 NC_000009.12:74762494 1 0 0 0 0 3750425, NG_017036.1:g.130601G>T, 117459121, NC_000009.11:g.77377410=, NP_060132.3:p.Val1393Phe, NC_000009.12:g.74762494C>A, NC_000009.11:g.77377410C>T, rs3750425, NC_000009.12:g.74762494=, 52794331, NP_060132.3:p.Val1393Ile, 59790880, NP_060132.3:p.Val1393=, NG_017036.1:g.130601=, NC_000009.12:g.74762494C>T, 56518046, NG_017036.1:g.130601G>A, NC_000009.11:g.77377410C>A +PA166157762 rs3750518 PA30572 MAN1B1 NC_000009.12:137088416 1 0 0 0 0 NG_031978.1:g.6490C>T, 3750518, NC_000009.12:g.137088416=, NC_000009.12:g.137088416C>A, rs3750518, NC_000009.11:g.139982868C>T, NM_016219.4:c.328+233C>T, NC_000009.12:g.137088416C>T, 58877832, NC_000009.11:g.139982868C>A, NR_045721.1:n.532+18C>T, NC_000009.11:g.139982868=, NG_031978.1:g.6490=, NR_027447.1:n.-1599G>A, XM_006716945.2:c.328+233C>T, NG_031978.1:g.6490C>A, NR_045720.1:n.401+233C>T, rs58877832 +PA166170852 rs3750625 PA35 ADRA2A NC_000010.11:111079843 3 0 0 0 0 rs3750625, 3750625, NC_000010.11:g.111079843=, NG_012020.1:g.7812C>A, NC_000010.11:g.111079843C>A, NC_000010.10:g.112839601C>A, NC_000010.10:g.112839601=, NG_012020.1:g.7812= +PA166154399 rs3750920 PA134876213 TOLLIP NC_000011.10:1288726 1 1 0 0 0 XM_011520192.1:c.210G>A, XP_005253048.1:p.Pro139=, NP_001305441.1:p.Pro89=, NP_001305443.1:p.Pro70=, NP_061882.2:p.Pro139=, NM_001318514.1:c.210G>A, NM_019009.3:c.417G>A, rs17857789, NM_001318516.1:c.234G>A, XM_005252994.1:c.210G>A, XP_011518494.1:p.Pro70=, NC_000011.10:g.1288726=, XP_005253050.1:p.Pro78=, 17857789, 3750920, XM_005252993.1:c.234G>A, NP_001305445.1:p.Pro78=, NC_000011.10:g.1288726C>A, 12789434, XP_005253049.1:p.Pro89=, XM_005252992.1:c.267G>A, 17845022, rs3750920, NC_000011.9:g.1309956C>T, NM_001318512.1:c.267G>A, XP_005253051.1:p.Pro70=, XM_005252991.1:c.417G>A, rs12789434, NC_000011.9:g.1309956=, NC_000011.10:g.1288726C>T, NM_001318515.1:c.183+6919G>A, NC_000011.9:g.1309956C>A, rs17845022 +PA166160149 rs3751122 PA36196 STIP1 NC_000011.10:64185649 1 0 0 0 0 NC_000011.10:g.64185649G>C, NC_000011.9:g.63953121=, NC_000011.10:g.64185649G>A, 58329341, NC_000011.10:g.64185649G>T, 118108058, rs3751122, 3751122, NC_000011.10:g.64185649=, NC_000011.9:g.63953121G>A, NC_000011.9:g.63953121G>C, NC_000011.9:g.63953121G>T +PA166160147 rs3751123 PA36196 STIP1 NC_000011.10:64185219 1 0 0 0 0 NC_000011.9:g.63952691G>A, NC_000011.9:g.63952691=, NC_000011.10:g.64185219G>A, 3751123, rs3751123, NC_000011.10:g.64185219= +PA166156253 rs375135093 PA128 CYP2D6 NC_000022.11:42129113 10 8 8 0 0 rs375135093, XP_011547121.1:p.Leu42=, XP_011528274.1:p.Leu142Ser, NM_000106.5:c.425T>C, NT_187682.1:g.51454A>G, XP_011546052.1:p.Leu94=, XM_005278353.1:c.363-170T>C, XM_011529970.1:c.353-169T>C, XM_011547750.1:c.282T>C, NC_000022.10:g.42525115A>G, XP_011528268.1:p.Leu142Ser, XM_011529967.1:c.425T>C, NM_001025161.2:c.353-169T>C, NP_000097.3:p.Leu142=, XP_005278411.1:p.Leu42=, NG_008376.3:g.5879T>C, NG_008376.3:g.5879=, 375135093, NP_000097.3:p.Leu142Ser, NC_000022.10:g.42525115=, NG_008376.4:g.6698=, XM_011529968.1:c.425T>C, XP_011528273.1:p.Leu94=, XM_011529971.1:c.282T>C, XP_011546053.1:p.Leu70Ser, XR_430455.2:n.-758A>G, NW_004504305.1:g.51440A>G, XM_011547756.1:c.-922A>G, NC_000022.11:g.42129113A>G, XM_005278354.3:c.126T>C, XM_011547751.1:c.209T>C, XM_011529969.1:c.282T>C, XM_011547541.1:c.126T>C, NG_008376.4:g.6698T>C, XP_011528269.1:p.Leu142Ser, XM_011548819.1:c.126T>C, XP_011545843.1:p.Leu42=, XR_952745.1:n.1582T>C, NW_009646208.1:g.14679A>G, XP_011528270.1:p.Leu142Ser, XP_011528271.1:p.Leu94=, NC_000022.11:g.42129113=, XM_011529966.1:c.425T>C, XM_005278354.1:c.126T>C, XM_011529972.1:c.425T>C +PA166155050 rs3751664 PA380 CACNA1H NC_000016.10:1204369 1 0 0 0 0 XP_005255714.1:p.Arg788Cys, XR_932960.1:n.2464C>T, XM_005255657.1:c.2362C>T, rs56779145, XM_005255655.1:c.2362C>T, NP_066921.2:p.Arg788=, NC_000016.10:g.1204369C>T, XM_005255656.1:c.2362C>T, XP_006721032.1:p.Arg788Cys, NG_012647.1:g.56129=, XP_005255713.1:p.Arg788Cys, NC_000016.9:g.1254369C>A, XP_006721028.1:p.Arg788Cys, NP_001005407.1:p.Arg788Cys, NP_066921.2:p.Arg788Cys, NC_000016.10:g.1204369=, rs56611441, XM_005255654.1:c.2362C>T, NC_000016.9:g.1254369=, XM_005255653.1:c.2362C>T, NC_000016.10:g.1204369C>A, XP_005255712.1:p.Arg788Cys, XM_005255652.1:c.2362C>T, NG_012647.1:g.56129C>A, XM_011522727.1:c.2362C>T, XM_011522726.1:c.2362C>T, XP_006721030.1:p.Arg788Cys, rs3751664, XM_005255652.3:c.2362C>T, XP_011521028.1:p.Arg788Cys, XM_011522724.1:c.1816C>T, XP_006721027.1:p.Arg788Cys, 3751664, XP_011521026.1:p.Arg606Cys, XP_005255711.1:p.Arg788Cys, XM_006720963.2:c.2362C>T, XP_005255709.1:p.Arg788Cys, NP_066921.2:p.Arg788Ser, NM_021098.2:c.2362C>T, XM_006720968.2:c.2362C>T, 56611441, NC_000016.9:g.1254369C>T, XM_006720967.2:c.2362C>T, XP_011521029.1:p.Arg788Cys, XM_006720964.2:c.2362C>T, XP_006721026.1:p.Arg788Cys, XP_006721031.1:p.Arg788Cys, NG_012647.1:g.56129C>T, XM_006720965.2:c.2362C>T, 56779145, XP_005255710.1:p.Arg788Cys, XM_006720969.2:c.2362C>T, NM_001005407.1:c.2362C>T +PA166155410 rs3752120 PA134935907 ZNF432 NC_000019.10:52048768 1 0 0 0 0 NC_000019.10:g.52048768C>T, XM_011527548.1:c.-352G>A, 3752120, rs3752120, NC_000019.9:g.52552021=, NM_014650.2:c.-266G>A, rs59249515, NC_000019.9:g.52552021C>T, NC_000019.10:g.52048768=, 59249515 +PA166153748 rs3753380 PA290 PTGFR NC_000001.11:78490747 2 1 0 0 0 NM_001039585.1:c.-562T>C, NG_052997.1:g.4774T>C, NG_052997.1:g.4774T>A, 17573497, NC_000001.11:g.78490747T>A, NC_000001.11:g.78490747T>C, NM_000959.3:c.-562T>C, XR_946715.1:n.-227T>C, NC_000001.10:g.78956432=, NG_052997.1:g.4774=, NC_000001.10:g.78956432T>C, XR_426624.2:n.-227T>C, 3753380, rs3753380, NC_000001.10:g.78956432T>A, XM_006710781.2:c.-72-1925T>C, rs17573497, NC_000001.11:g.78490747= +PA166153749 rs3753394 PA29261 CFH NC_000001.11:196651787 1 0 0 0 0 NC_000001.11:g.196651787C>T, NC_000001.10:g.196620917=, rs59551789, rs3753394, NC_000001.10:g.196620917C>T, NG_007259.1:g.4777C>T, 3753394, XM_005245112.1:c.-331C>T, NC_000001.11:g.196651787=, NM_000186.3:c.-331C>T, NM_001014975.2:c.-331C>T, XM_005245111.1:c.-331C>T, 59551789, NG_007259.1:g.4777= +PA166319226 rs375436137 PA145 DPYD NC_000001.11:97306281 1 0 0 0 0 NG_008807.2:g.619779=, NC_000001.10:g.97771837C>A, NC_000001.11:g.97306281=, rs375436137, NP_000101.2:p.Arg692Leu, NC_000001.10:g.97771837C>T, NP_000101.2:p.Arg692=, NC_000001.11:g.97306281C>T, NG_008807.2:g.619779G>T, NC_000001.10:g.97771837=, NC_000001.11:g.97306281C>A, NP_000101.2:p.Arg692Gln, 375436137, NG_008807.2:g.619779G>A +PA166153750 rs3754446 PA182,PA29027 GSTM1,GSTM5 NC_000001.11:109710619 3 1 0 0 0 XM_005270784.3:c.-1229A>C, NC_000001.10:g.110253241=, 3754446, rs59602189, NC_000001.11:g.109710619=, NM_000851.3:c.-1694A>C, rs3754446, 386585508, rs386585508, NC_000001.11:g.109710619A>C, XM_005270784.1:c.-1229A>C, NC_000001.10:g.110253241A>C, 59602189 +PA166155705 rs3755047 PA24388,PA134931318 ABCB6,ATG9A NC_000002.12:219220142 1 0 0 0 0 NM_005689.2:c.-1469C>T, NC_000002.11:g.220084864=, rs3755047, 3755047, NC_000002.11:g.220084864G>A, NC_000002.12:g.219220142G>A, XM_005246846.1:c.*305C>T, XM_005246215.1:c.-1469C>T, XM_005246216.1:c.-1469C>T, XM_005246847.1:c.*305C>T, XM_005246842.1:c.*305C>T, XM_005246844.1:c.*305C>T, NG_032110.1:g.3849=, XM_005246841.1:c.*305C>T, XM_005246845.1:c.*305C>T, 16859670, NM_001077198.2:c.*305C>T, rs16859670, NM_024085.4:c.*305C>T, XM_005246843.1:c.*305C>T, NR_104255.1:n.3001C>T, NG_032110.1:g.3849C>T, XR_241322.1:n.2978C>T, XR_241277.1:n.-1184C>T, NC_000002.12:g.219220142= +PA166155706 rs3755319 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233758936 2 0 0 0 0 NG_033238.1:g.3664A>C, NC_000002.11:g.234667582=, NG_033238.1:g.3664=, 57256426, NG_033238.1:g.3664A>G, NG_002601.2:g.174193A>G, XR_241241.1:n.942-8098A>C, NM_019093.2:c.868-8098A>C, NM_019077.2:c.856-8098A=, NG_002601.2:g.174193A>C, NM_000463.2:c.-1352A=, NM_000463.2:c.-1352A>C, NM_001072.3:c.862-8098A=, NM_205862.1:c.61-8098A=, 36208045, NM_019076.4:c.856-8098A>C, 3755319, NC_000002.12:g.233758936A>T, XR_241238.1:n.924-8098A>C, NG_033238.1:g.3664A>T, NM_019075.2:c.856-8098A=, NM_007120.2:c.868-8098A=, NM_001072.3:c.862-8098A>C, rs35208194, NM_019078.1:c.868-8098A>C, NM_019077.2:c.856-8098A>C, NG_002601.2:g.174193A=, NM_019075.2:c.856-8098A>C, XR_241239.1:n.-1330A=, NC_000002.12:g.233758936A=, NM_205862.1:c.61-8098A>C, NM_019078.1:c.868-8098A=, NM_019093.2:c.868-8098A=, XR_241238.1:n.924-8098A=, NC_000002.11:g.234667582A>C, XR_241240.1:n.1023-8098A>C, XR_241239.1:n.-1330A>C, NC_000002.11:g.234667582A>G, NC_000002.12:g.233758936A>G, NG_002601.2:g.174193=, NC_000002.12:g.233758936A>C, NG_033238.1:g.3664A=, NM_007120.2:c.868-8098A>C, NM_019076.4:c.856-8098A=, NM_021027.2:c.856-8098A>C, NC_000002.11:g.234667582A>T, 35208194, NG_002601.2:g.174193A>T, XR_241240.1:n.1023-8098A=, NM_021027.2:c.856-8098A=, XR_241241.1:n.942-8098A=, rs3755319, NC_000002.11:g.234667582A=, rs36208045, rs57256426, NC_000002.12:g.233758936= +PA166156377 rs3755557 PA29009 GSK3B NC_000003.12:120096110 1 0 0 0 0 rs17246723, rs11566412, 60355302, 17810971, rs3755557, 11566412, 3755557, NC_000003.11:g.119814957=, NG_012922.1:g.3308A>T, NM_001146156.1:c.-2676A>T, 17246723, NC_000003.12:g.120096110T>A, NG_012922.1:g.3308=, rs17810971, rs60355302, NC_000003.12:g.120096110=, NC_000003.11:g.119814957T>A, NM_002093.3:c.-2676A>T +PA166156577 rs3756009 PA27941 F11 NC_000004.12:186264957 1 0 0 0 0 XM_005262823.2:c.-1340A>G, NC_000004.12:g.186264957A>G, XM_005262821.2:c.-1340A>G, XM_006714137.1:c.-1340A>G, XM_005262822.2:c.-1340A>G, NC_000004.11:g.187186111A>G, 3756009, NM_000128.3:c.-1340A>G, NG_008051.1:g.3994A>G, XR_938707.1:n.-988A>G, rs3756009, XM_005262821.1:c.-1340A>G, XM_005262823.1:c.-1340A>G, NC_000004.12:g.186264957=, rs17507427, XM_005262822.1:c.-1340A>G, XR_938706.1:n.-988A>G, XM_005262826.1:c.-1340A>G, NG_008051.1:g.3994=, 17507427, NC_000004.11:g.187186111=, XM_005262824.1:c.-1340A>G, XM_005262825.1:c.-1340A>G +PA166203444 rs3757173 PA36593 TNFAIP3 NC_000006.12:137869017 1 0 0 0 0 NC_000006.11:g.138190154A>G, NC_000006.12:g.137869017A>G, NC_000006.11:g.138190154=, NG_032761.1:g.6574A>G, 57968740, NC_000006.12:g.137869017=, rs3757173, 3757173, 117002143, NG_032761.1:g.6574= +PA166157078 rs3757241 PA38452,PA134970102 CYP39A1,SLC25A27 NC_000006.12:46655961 1 0 0 0 0 NC_000006.12:g.46655961T>G, NP_001190981.1:p.Ala75=, NG_007962.1:g.1826=, XR_427858.1:n.473T>C, 17859019, XM_005249485.1:c.-87T>C, XR_241952.1:n.473T>C, NC_000006.12:g.46655961T>C, NC_000006.12:g.46655961T>A, XP_005249541.1:p.Ala27=, NP_004268.3:p.Ala75=, rs3757241, 3757241, XM_005249483.2:c.225T>C, XP_005249540.1:p.Ala75=, 61168124, NC_000006.11:g.46623698=, XM_005249484.1:c.81T>C, 17216715, NC_000006.11:g.46623698T>G, NC_000006.11:g.46623698T>C, 17846034, NM_001204052.1:c.225T>C, NC_000006.11:g.46623698T>A, NG_007962.1:g.1826A>C, rs17216715, NG_007962.1:g.1826A>G, rs61168124, NP_001190980.1:p.Ala75=, XM_005249483.1:c.225T>C, rs17859019, NM_001204051.1:c.225T>C, NM_004277.4:c.225T>C, rs17846034, NG_007962.1:g.1826A>T, NC_000006.12:g.46655961= +PA166157379 rs3757472 PA140 DDC NC_000007.14:50470285 1 0 0 0 0 XM_005271744.1:c.1042-114T>G, NG_008742.1:g.100172=, NM_001242886.1:c.928-114T>G, NG_008742.1:g.100172T>A, NG_008742.1:g.100172T>G, 11575495, NM_001082971.1:c.1042-114T>G, rs59701169, NM_001242888.1:c.808-114T>G, XM_005271745.3:c.928-114T>G, XM_005271745.1:c.928-114T>G, rs11575495, NC_000007.14:g.50470285=, 59701169, NM_001242889.1:c.763-114T>G, NM_001242887.1:c.898-114T>G, XM_011515161.1:c.691-114T>G, NM_000790.3:c.1042-114T>G, NC_000007.13:g.50537983A>T, NC_000007.14:g.50470285A>T, 3757472, rs3757472, NC_000007.13:g.50537983A>C, NC_000007.13:g.50537983=, NC_000007.14:g.50470285A>C +PA166183357 rs375781227 PA124 CYP2C19 NC_000010.11:94781944 7 3 3 0 0 NC_000010.11:g.94781944=, NG_008384.3:g.24264=, NC_000010.10:g.96541701=, 375781227, NP_000760.1:p.Asp256Asn, NC_000010.10:g.96541701G>C, NP_000760.1:p.Asp256=, NC_000010.10:g.96541701G>A, NG_008384.3:g.24264G>C, NC_000010.11:g.94781944G>C, NP_000760.1:p.Asp256His, NC_000010.11:g.94781944G>A, rs375781227, NG_008384.3:g.24264G>A +PA166219768 rs375805362 PA126 CYP2C9 NC_000010.11:94942233 2 3 3 0 0 NG_008385.2:g.9076=, NG_008385.2:g.9076C>T, NP_000762.2:p.Arg125=, NC_000010.11:g.94942233C>T, NP_000762.2:p.Arg125Cys, NG_008385.1:g.8576=, 375805362, NC_000010.11:g.94942233=, NG_008385.1:g.8576C>T, rs375805362, NC_000010.10:g.96701990C>T, NC_000010.10:g.96701990= +PA166157593 rs3758149 PA432 GGH NC_000008.11:63039169 7 3 0 0 0 NG_028126.1:g.4883C>T, NC_000008.11:g.63039169=, 3758149, rs3758149, NC_000008.11:g.63039169G>A, NC_000008.10:g.63951728G>A, NG_028126.1:g.4883=, NM_003878.2:c.-401C>T, XM_011517623.1:c.-401C>T, NC_000008.10:g.63951728= +PA166154031 rs3758395 PA116 ABCC2 NC_000010.11:99842247 1 0 0 0 0 NC_000010.11:g.99842247T>C, NC_000010.11:g.99842247=, NC_000010.10:g.101602004T>C, XR_945605.1:n.3806-1552T>C, NG_011798.2:g.64650=, 3758395, NG_011798.2:g.64650T>C, XM_006717630.2:c.3045+154T>C, XM_005269536.1:c.3462+154T>C, NG_011798.1:g.64542T>C, rs3758395, XR_945604.1:n.3930+154T>C, NG_011798.1:g.64542=, NM_000392.4:c.3741+154T>C, NC_000010.10:g.101602004= +PA166154032 rs3758580 PA124 CYP2C19 NC_000010.11:94842865 1 0 0 0 0 NP_000760.1:p.Val330=, NG_008384.3:g.85185C>G, 17878422, NG_008384.2:g.85160C>T, NM_000769.2:c.990C>T, NC_000010.11:g.94842865C>T, NC_000010.10:g.96602622C>T, 61190872, rs17878422, NC_000010.11:g.94842865C>G, NM_000769.1:c.990C>T, NC_000010.11:g.94842865=, rs3758580, 3758580, NG_008384.3:g.85185=, rs61190872, NG_008384.3:g.85185C>T, NC_000010.10:g.96602622=, NC_000010.10:g.96602622C>G +PA166154033 rs3758581 PA124 CYP2C19 NC_000010.11:94842866 1000 53 53 0 0 17885635, NM_000769.1:c.991A>G, NC_000010.11:g.94842866A>C, NG_008384.3:g.85186A>C, NG_008384.3:g.85186A>G, NG_008384.2:g.85161A>G, NP_000760.1:p.Ile331Val, NC_000010.10:g.96602623G=, NM_000769.2:c.991A>G, rs58435136, NC_000010.11:g.94842866A>G, NG_008384.2:g.85161A=, rs17885635, rs3758581, NC_000010.11:g.94842866=, NM_000769.2:c.991A=, 3758581, NP_000760.1:p.Ile331Leu, NC_000010.10:g.96602623G>A, NM_000769.1:c.991A=, NG_008384.3:g.85186=, NP_000760.1:p.Ile331=, 58435136, NC_000010.10:g.96602623G>C +PA166181216 rs3758653 PA27480 DRD4 NC_000011.10:636399 1 0 0 0 0 3758653, rs3758653, NC_000011.10:g.636399=, NC_000011.9:g.636399T>C, 59067634, NG_021241.1:g.4095=, NC_000011.9:g.636399=, NG_021241.1:g.4095T>C, NC_000011.10:g.636399T>C +PA166154400 rs3758785 PA28927 GPR83 NC_000011.10:94398973 2 2 0 0 0 3758785, NC_000011.9:g.94132139=, rs3758785, rs60654011, NM_016540.3:c.387+1888T>C, 60654011, NC_000011.10:g.94398973A>T, NC_000011.9:g.94132139A>T, XM_011542559.1:c.387+1888T>C, NC_000011.10:g.94398973=, NC_000011.10:g.94398973A>G, NC_000011.9:g.94132139A>G +PA166154401 rs3758987 PA29556 HTR3B NC_000011.10:113904553 4 2 0 0 0 rs17542553, rs60662070, NG_011483.1:g.4687T>C, NC_000011.9:g.113775275T>C, NC_000011.9:g.113775275=, NC_000011.10:g.113904553=, NG_011483.1:g.4687=, 386585621, 3758987, NM_006028.4:c.-381T>C, XM_011543064.1:c.12+5470T>C, rs3758987, 60662070, 17542553, NC_000011.10:g.113904553T>C, rs386585621 +PA166154561 rs3759125 PA24920 AQP2 NC_000012.12:49949825 2 0 0 0 0 rs59771778, NC_000012.11:g.50343608=, rs57211551, NC_000012.11:g.50343608A>C, NC_000012.12:g.49949825=, NG_008913.1:g.4085=, NC_000012.11:g.50343608A>G, 386585625, NM_000486.5:c.-1006A>C, 3759125, 57211551, 59771778, NC_000012.12:g.49949825A>C, NG_008913.1:g.4085A>C, rs3759125, NG_008913.1:g.4085A>G, rs386585625, NC_000012.12:g.49949825A>G +PA166154562 rs3759126 PA24920 AQP2 NC_000012.12:49950079 1 0 0 0 0 17551101, NG_008913.1:g.4339A>C, 386585626, NG_008913.1:g.4339=, NC_000012.11:g.50343862A>G, rs386585626, 3759126, rs3759126, NM_000486.5:c.-752A>G, NC_000012.12:g.49950079=, NC_000012.12:g.49950079A>G, NC_000012.11:g.50343862A>C, NG_008913.1:g.4339A>G, NC_000012.12:g.49950079A>C, NC_000012.11:g.50343862=, rs17551101 +PA166160991 rs3759467 PA434 TNFSF13B NC_000013.11:108267192 1 1 0 0 0 NC_000013.11:g.108267192T>A, NG_029524.1:g.2564T>C, NC_000013.10:g.108919540T>A, NC_000013.11:g.108267192=, NC_000013.11:g.108267192T>C, 3759467, NC_000013.10:g.108919540=, rs3759467, NG_029524.1:g.2564=, NC_000013.10:g.108919540T>C, 386492354, NG_029524.1:g.2564T>A, 117028452 +PA166154903 rs3759811 PA27091 CYP19A1 NC_000015.10:51237068 1 1 0 0 0 XM_005254190.1:c.146-59A>G, 57463125, NC_000015.10:g.51237068=, rs17523133, NC_000015.9:g.51529265=, NC_000015.10:g.51237068T>C, 3759811, NC_000015.9:g.51529265T>A, XM_005254191.1:c.146-59A>G, XR_932222.1:n.99-40915T>C, NM_000103.3:c.146-59A>G, NC_000015.10:g.51237068T>A, rs3759811, XM_005254192.1:c.146-59A>G, rs57463125, NC_000015.9:g.51529265T>C, rs60305783, NG_007982.1:g.106531A>T, 17523133, NG_007982.1:g.106531A>G, 60305783, NG_007982.1:g.106531=, NM_031226.2:c.146-59A>G +PA166319121 rs375990187 PA145 DPYD NC_000001.11:97740423 1 0 0 0 0 rs375990187, NP_000101.2:p.Ile97=, NC_000001.10:g.98205979=, NG_008807.2:g.185637T>C, NC_000001.11:g.97740423A>G, NC_000001.10:g.98205979A>G, 375990187, NC_000001.11:g.97740423=, NG_008807.2:g.185637=, NP_000101.2:p.Ile97Thr +PA166394802 rs376008630 PA109 CFTR NC_000007.14:117535248 0 0 0 0 1 rs376008630, NG_016465.4:g.74465G>T, NC_000007.14:g.117535248=, NC_000007.14:g.117535248G>T, NC_000007.13:g.117175302G>A, NC_000007.13:g.117175302G>T, NC_000007.13:g.117175302=, NP_000483.3:p.Gly194Arg, NG_016465.4:g.74465G>C, NG_016465.4:g.74465G>A, 376008630, NC_000007.14:g.117535248G>A, NC_000007.13:g.117175302G>C, NC_000007.14:g.117535248G>C, NG_016465.4:g.74465=, NP_000483.3:p.Gly194Ter, NP_000483.3:p.Gly194= +PA166155051 rs3760091 PA166123718,PA343 NPIPB8,SULT1A1 NC_000016.10:28609479 2 0 0 0 0 60448308, rs3760091, NC_000016.9:g.28620800=, NM_177530.2:c.-425G>C, NC_000016.9:g.28620800C>T, NM_001055.3:c.-5+452G>C, NG_028128.1:g.19067=, 3760091, NC_000016.10:g.28609479C>T, NG_028128.1:g.19067G>C, NM_177536.3:c.139-2402G>C, rs60448308, NC_000016.10:g.28609479=, NG_028128.1:g.19067G>A, rs117385979, NM_001310136.1:c.121-142577G>C, NC_000016.10:g.28609479C>G, NC_000016.9:g.28620800C>G, NM_177529.2:c.-36+452G>C, NM_177534.2:c.-624G>C, 117385979, XM_005255522.1:c.-5+452G>C +PA166285421 rs3760364 PA29938 ITGA2B NC_000017.11:44390436 1 0 0 0 0 NC_000017.10:g.42467804=, NC_000017.11:g.44390436=, 3760364, NC_000017.11:g.44390436T>A, NC_000017.10:g.42467804T>A, rs3760364, NG_008331.1:g.4070=, 59110709, NG_008331.1:g.4070A>T +PA166256484 rs3760468 PA249,PA162398077 NME1,NME1-NME2 NC_000017.11:51153130 1 0 0 0 0 NG_021169.1:g.4572=, 17551171, NC_000017.11:g.51153130A>T, NC_000017.11:g.51153130=, NC_000017.10:g.49230491=, NC_000017.10:g.49230491A>T, rs3760468, 3760468, NG_021169.1:g.4572A>T +PA166232248 rs3760657 PA123 CYP2B6 NC_000019.10:40989528 2 0 0 0 0 NC_000019.10:g.40989528=, rs3760657, 59013005, NC_000019.9:g.41495433=, NG_055439.1:g.576=, NG_055439.1:g.576A>G, NC_000019.9:g.41495433A>G, NC_000019.10:g.40989528A>G, NG_007929.1:g.3230A>G, 3760657, NG_007929.1:g.3230= +PA166159507 rs376073289 PA145 DPYD NC_000001.11:97699408 3 1 0 0 0 376073289, NP_000101.2:p.Arg208=, NP_000101.2:p.Arg208Gln, rs376073289, NC_000001.10:g.98164964C>T, NC_000001.11:g.97699408C>A, NG_008807.2:g.226652=, NG_008807.2:g.226652G>A, NP_000101.2:p.Arg208Leu, NC_000001.10:g.98164964=, NG_008807.2:g.226652G>T, NC_000001.10:g.98164964C>A, NC_000001.11:g.97699408C>T, NC_000001.11:g.97699408= +PA166319221 rs376128878 PA145 DPYD NC_000001.11:97691740 1 0 0 0 0 NC_000001.11:g.97691740G>A, NC_000001.10:g.98157296G>T, NC_000001.11:g.97691740=, NG_008807.2:g.234320C>A, NC_000001.11:g.97691740G>T, NC_000001.10:g.98157296=, rs376128878, NP_000101.2:p.Leu247Ile, NG_008807.2:g.234320=, NP_000101.2:p.Leu247=, NC_000001.10:g.98157296G>A, NG_008807.2:g.234320C>T, 376128878 +PA166176962 rs3761372 NC_000021.9:39371919 1 1 0 0 0 rs3761372, NC_000021.8:g.40743845T>C, 3761372, NC_000021.9:g.39371919=, NC_000021.9:g.39371919T>C, 58870222, NC_000021.8:g.40743845= +PA166156103 rs3761422 PA24584,PA165378332 ADORA2A,ADORA2A-AS1 NC_000022.11:24430704 4 2 0 0 0 NG_052804.1:g.12108T>A, NR_103544.1:n.165+2978T>C, NG_052804.1:g.12108T>C, rs58256941, NM_000675.5:c.-274-2427T>C, NC_000022.11:g.24430704T>A, NM_001278499.1:c.-274-2427T>C, NM_001278497.1:c.-2045T>C, NR_103543.1:n.185+2958T>C, NR_103546.1:n.3906-2427T>C, NM_001278498.1:c.-1939T>C, NC_000022.10:g.24826672T>A, NM_001278500.1:c.-274-2427T>C, NG_052804.1:g.12108=, NC_000022.10:g.24826672T>C, NC_000022.11:g.24430704=, NR_028484.2:n.1672+193A>G, 58256941, NC_000022.11:g.24430704T>C, rs3761422, 3761422, NC_000022.10:g.24826672= +PA166162254 rs3761547 PA201094 FOXP3 NC_000023.11:49262004 1 0 0 0 0 rs3761547, 3761547, 12844627, NC_000023.10:g.49118461T>C, NG_007392.1:g.7828=, NC_000023.10:g.49118461=, 61728004, NG_007392.1:g.7828A>G, NC_000023.11:g.49262004=, NC_000023.11:g.49262004T>C +PA166162248 rs3761548 PA201094 FOXP3 NC_000023.11:49261784 3 2 0 0 0 NC_000023.11:g.49261784G>A, NG_007392.1:g.8048A>C, NC_000023.11:g.49261784G>C, NG_007392.1:g.8048A>G, NC_000023.10:g.49118241T>G, rs3761548, 12838532, NC_000023.11:g.49261784G>T, 3761548, NC_000023.10:g.49118241T>A, NC_000023.11:g.49261784=, NC_000023.10:g.49118241T>C, NG_007392.1:g.8048A>T, 56680081 +PA166162260 rs3761549 PA201094 FOXP3 NC_000023.11:49260888 1 0 0 0 0 rs3761549, 3761549, NC_000023.10:g.49117345G>A, 12850209, NG_007392.1:g.8944=, NG_007392.1:g.8944C>T, NC_000023.11:g.49260888=, NC_000023.11:g.49260888G>A, NC_000023.10:g.49117345= +PA166157871 rs3761554 PA28968 GRIA3 NC_000023.11:123183391 1 1 0 0 0 NG_009377.2:g.4149T>C, NM_000828.4:c.-1145T>C, NM_007325.4:c.-1145T>C, rs60630449, NG_009377.2:g.4149=, NC_000023.10:g.122317244=, NC_000023.11:g.123183391=, 60630449, NC_000023.11:g.123183391T>C, NC_000023.10:g.122317244T>C, NM_001256743.1:c.-1145T>C, rs3761554, XM_005262406.1:c.-841T>C, 3761554 +PA166157872 rs3761555 PA28968 GRIA3 NC_000023.11:123182584 1 1 0 0 0 NM_001256743.1:c.-1952T>C, 386585686, NC_000023.10:g.122316437=, NG_009377.2:g.3342T>C, rs57158618, NM_007325.4:c.-1952T>C, NG_009377.2:g.3342T>A, NC_000023.10:g.122316437T>A, NG_009377.2:g.3342=, NC_000023.10:g.122316437T>C, NM_000828.4:c.-1952T>C, NC_000023.11:g.123182584=, NC_000023.11:g.123182584T>C, XM_005262406.1:c.-1648T>C, rs386585686, NC_000023.11:g.123182584T>A, 57158618, rs3761555, 3761555 +PA166155707 rs3761656 NC_000002.12:162154725 1 0 0 0 0 3761656, NC_000002.12:g.162154725=, rs117845058, XR_241339.1:n.93-7045T>G, NC_000002.12:g.162154725T>G, 60722133, NR_110255.1:n.93-7045T>G, rs60722133, NC_000002.11:g.163011235=, rs3761656, NC_000002.11:g.163011235T>G, 117845058 +PA166157763 rs3761847 PA36708 TRAF1 NC_000009.12:120927961 2 1 0 0 0 NC_000009.12:g.120927961G>A, NC_000009.11:g.123690239=, NC_000009.12:g.120927961G>C, NM_005658.4:c.-1638C>T, NG_023346.1:g.6213C>G, 57231462, NG_023346.1:g.6213C>T, NM_001190945.1:c.-366+1153C>T, NG_023346.1:g.6213=, rs3761847, 3761847, NC_000009.11:g.123690239G>A, rs57231462, NC_000009.12:g.120927961=, NC_000009.11:g.123690239G>C +PA166205741 rs3762555 PA28507 GAD1 NC_000002.12:170815885 1 1 0 0 0 NG_021477.1:g.4196C>A, NC_000002.11:g.171672395C>A, NG_021477.1:g.4196C>G, NC_000002.12:g.170815885=, NC_000002.12:g.170815885C>G, NC_000002.12:g.170815885C>A, NG_021477.1:g.4196=, NC_000002.11:g.171672395=, NC_000002.11:g.171672395C>T, NG_021477.1:g.4196C>T, NC_000002.11:g.171672395C>G, NC_000002.12:g.170815885C>T, rs3762555, 3762555 +PA166205742 rs3762556 PA28507 GAD1 NC_000002.12:170815568 1 1 0 0 0 NC_000002.12:g.170815568C>G, NG_021477.1:g.3879C>A, NC_000002.11:g.171672078=, NC_000002.11:g.171672078C>A, NG_021477.1:g.3879=, NC_000002.12:g.170815568C>A, rs3762556, NC_000002.12:g.170815568=, 3762556, NC_000002.11:g.171672078C>G, NG_021477.1:g.3879C>G +PA166319122 rs376273539 PA145 DPYD NC_000001.11:97920887 1 0 0 0 0 NC_000001.10:g.98386443G>C, rs376273539, NC_000001.11:g.97920887=, NG_008807.2:g.5173=, NG_008807.2:g.5173C>G, NC_000001.11:g.97920887G>C, NC_000001.10:g.98386443=, NG_008807.2:g.5173C>A, NC_000001.10:g.98386443G>T, NP_000101.2:p.Ile12Met, 376273539, NP_000101.2:p.Ile12=, NC_000001.11:g.97920887G>T +PA166156817 rs3763153 PA162381084 CARTPT NC_000005.10:71717820 2 0 0 0 0 rs36223768, rs3763153, 3763153, 386585731, 58334661, NC_000005.9:g.71013647T>A, NG_015988.1:g.3658T>G, NC_000005.9:g.71013647=, NM_004291.3:c.-1474T>C, NG_015988.1:g.3658T>C, 117489910, NG_015988.1:g.3658=, NC_000005.10:g.71717820T>A, NC_000005.10:g.71717820T>C, rs117489910, NC_000005.9:g.71013647T>G, NG_015988.1:g.3658T>A, NC_000005.9:g.71013647T>C, NC_000005.10:g.71717820T>G, NC_000005.10:g.71717820=, rs58334661, rs386585731, 36223768 +PA166154563 rs3763980 PA35819 SLC16A7 NC_000012.12:59779575 2 1 0 0 0 XM_011538997.1:c.1036A>T, XM_011538996.1:c.1036A>T, XP_011537291.1:p.Thr471Ser, XM_011538992.1:c.1411A>T, XM_005269233.1:c.1036A>T, XM_005269232.1:c.1036A>T, NP_001257552.1:p.Thr445Ser, XM_011538991.1:c.1411A>T, XM_011538994.1:c.1036A>T, XM_011538990.1:c.1411A>T, XM_011538993.1:c.1036A>T, XM_011538995.1:c.1036A>T, XP_011537296.1:p.Thr346Ser, NC_000012.11:g.60173356A>G, XP_005269289.1:p.Thr346Ser, rs3763980, NC_000012.12:g.59779575A>T, 56973174, NC_000012.11:g.60173356A>T, NP_004722.2:p.Thr445Ser, NC_000012.12:g.59779575A>G, XP_011537294.1:p.Thr471Ser, XM_005269231.1:c.1333A>T, NR_073055.1:n.1773A>T, rs17571543, NP_004722.2:p.Thr445=, XP_011537295.1:p.Thr346Ser, XP_005269288.1:p.Thr445Ser, XP_011537293.1:p.Thr471Ser, 57488699, XP_011537299.1:p.Thr346Ser, NM_004731.4:c.1333A>T, NM_001270623.1:c.1333A>T, XM_011538989.1:c.1411A>T, XP_005269290.1:p.Thr346Ser, XP_011537298.1:p.Thr346Ser, XM_005269231.3:c.1333A>T, NR_073056.1:n.1634A>T, XP_011537292.1:p.Thr471Ser, NP_004722.2:p.Thr445Ala, XP_011537297.1:p.Thr346Ser, NP_001257551.1:p.Thr445Ser, NC_000012.12:g.59779575=, NC_000012.11:g.60173356=, 17571543, rs57488699, 3763980, NM_001270622.1:c.1333A>T, rs56973174 +PA166250086 rs3764006 PA35844 SLCO1B3 NC_000012.12:20901435 1 0 0 0 0 16923308, NC_000012.11:g.21054369=, NP_062818.1:p.Gly611=, NC_000012.12:g.20901435=, NC_000012.11:g.21054369G>C, NG_032071.1:g.95732A>T, NC_000012.11:g.21054369G>A, NC_000012.12:g.20901435G>A, NC_000012.12:g.20901435G>C, NG_032071.1:g.95732A>G, 58422021, NG_032071.1:g.95732A>C, NC_000012.11:g.21054369G>T, rs3764006, 3764006, NC_000012.12:g.20901435G>T +PA166154564 rs3764043 PA328 SLCO1A2 NC_000012.12:21335070 2 1 0 0 0 XM_005253476.1:c.-57-366G>A, XM_005253474.1:c.-301G>A, NM_134431.3:c.-62-361G>A, 3764043, rs3764043, XM_011520819.1:c.-57-366G>A, NC_000012.11:g.21488004=, NM_021094.3:c.-423G>A, rs57942090, NC_000012.12:g.21335070C>T, NC_000012.11:g.21488004C>T, XM_005253475.1:c.-306G>A, NC_000012.12:g.21335070=, XM_005253474.3:c.-301G>A, XM_011520818.1:c.-306G>A, 57942090 +PA166155052 rs3764261 PA108 CETP NC_000016.10:56959412 3 0 0 0 0 rs3764261, NC_000016.9:g.56993324C>A, NC_000016.10:g.56959412C>A, NG_008952.1:g.2490C>A, 3764261, 386585771, rs386585771, rs52828654, 57153281, NC_000016.10:g.56959412=, 52828654, NC_000016.9:g.56993324=, rs57153281, NG_008952.1:g.2490= +PA166157764 rs3764435 PA24692 ALDH1A1 NC_000009.12:72901960 3 0 0 0 0 NG_012249.1:g.56094T>A, NC_000009.11:g.75516876A>T, XM_005251801.1:c.1374-680T>G, XM_005251800.1:c.1434-680T>G, NC_000009.12:g.72901960A>C, NG_012249.1:g.56094=, NC_000009.11:g.75516876=, NC_000009.12:g.72901960=, NM_000689.4:c.1434-680T>G, NC_000009.11:g.75516876A>C, rs3764435, NC_000009.12:g.72901960A>T, NG_012249.1:g.56094T>G, 3764435 +PA166182323 rs3765467 PA28725 GLP1R NC_000006.12:39065819 1 0 0 0 0 NP_002053.3:p.Arg131Gln, NC_000006.11:g.39033595G>C, NC_000006.12:g.39065819G>T, NC_000006.11:g.39033595G>A, 17848994, NC_000006.12:g.39065819=, NP_002053.3:p.Arg131=, NP_002053.3:p.Arg131Pro, NC_000006.12:g.39065819G>A, NC_000006.12:g.39065819G>C, NC_000006.11:g.39033595G>T, 3765467, rs3765467, NC_000006.11:g.39033595=, NP_002053.3:p.Arg131Leu +PA166154714 rs3765534 PA397 ABCC4 NC_000013.11:95163161 5 1 0 0 0 NP_005836.2:p.Glu757Lys, rs17235040, NM_001301830.1:c.2044G>A, NG_050651.1:g.143286=, XP_006719977.1:p.Glu727Lys, NP_001288758.1:p.Glu710Lys, XP_005254084.1:p.Glu682Lys, XM_006719914.1:c.2179G>A, XM_005254025.1:c.2140G>A, rs3765534, XM_005254028.1:c.2044G>A, XP_011519349.1:p.Glu574Lys, NC_000013.11:g.95163161=, 3765534, NM_001105515.2:c.2269G>A, XP_005254082.1:p.Glu714Lys, XM_005254027.1:c.2044G>A, 52814620, NP_001098985.1:p.Glu757Lys, XM_005254026.1:c.2128G>A, NM_005845.4:c.2269G>A, XP_005254085.1:p.Glu682Lys, XM_011521047.1:c.1720G>A, XM_005254025.2:c.2140G>A, rs57150501, NP_005836.2:p.Glu757=, NM_001301829.1:c.2128G>A, 17235040, rs52814620, NG_050651.1:g.143286G>A, NC_000013.11:g.95163161C>T, NP_001288759.1:p.Glu682Lys, NC_000013.10:g.95815415C>T, XP_005254083.1:p.Glu710Lys, 57150501, NC_000013.10:g.95815415= +PA166163283 rs3766246 PA27955 FAAH NC_000001.11:46399999 2 1 0 0 0 NC_000001.11:g.46399999A>G, NC_000001.10:g.46865671=, rs3766246, NC_000001.11:g.46399999A>C, NC_000001.10:g.46865671A>C, 57424601, NC_000001.11:g.46399999=, NG_012195.1:g.10733A>T, 386585834, NC_000001.10:g.46865671A>G, NG_012195.1:g.10733=, NC_000001.11:g.46399999A>T, NC_000001.10:g.46865671A>T, 3766246, NG_012195.1:g.10733A>C, NG_012195.1:g.10733A>G +PA166153751 rs3766355 PA290 PTGFR NC_000001.11:78491756 2 1 0 0 0 NG_052997.1:g.5783=, NC_000001.10:g.78957441C>T, rs3766355, 3766355, NM_000959.3:c.-73+520C>A, NM_001039585.1:c.-73+520C>A, 58238011, XM_006710781.2:c.-72-916C>A, NG_052997.1:g.5783C>T, NC_000001.11:g.78491756C>A, XR_946715.1:n.263+520C>A, NC_000001.10:g.78957441C>A, XR_426624.2:n.263+520C>A, NC_000001.11:g.78491756=, rs58238011, NG_052997.1:g.5783C>A, NC_000001.11:g.78491756C>T, NC_000001.10:g.78957441= +PA166170382 rs3766522 PA33747 PRKAB2 NC_000001.11:147170107 1 0 0 0 0 NC_000001.11:g.147170107=, NC_000001.10:g.146641686=, NG_052905.1:g.1914A>T, NC_000001.10:g.146641686A>T, NG_052905.1:g.1914=, rs3766522, 3766522, NC_000001.11:g.147170107A>T +PA166183890 rs3766951 PA31942 OPRD1 NC_000001.11:28843047 2 1 0 0 0 386585862, 16837722, NC_000001.11:g.28843047=, NC_000001.10:g.29169559=, NC_000001.10:g.29169559T>C, rs3766951, 3766951, 11564797, NC_000001.11:g.28843047T>C +PA166309221 rs376695472 PA26996 CTBP2 NC_000010.11:124998113 1 0 0 0 0 NC_000010.10:g.126686682A>G, rs376695472, NP_001320.1:p.Ile139=, NC_000010.11:g.124998113A>T, NP_001320.1:p.Ile139Thr, NC_000010.10:g.126686682A>T, NP_001320.1:p.Ile139Asn, 376695472, NC_000010.10:g.126686682=, NC_000010.11:g.124998113=, NC_000010.11:g.124998113A>G +PA166179071 rs3767344 PA34892 RXRG NC_000001.11:165422714 2 0 0 0 0 NG_029517.1:g.27642=, NG_029517.1:g.27642C>G, 3767344, rs3767344, NC_000001.11:g.165422714G>T, 56544396, NC_000001.10:g.165391951=, NG_029517.2:g.27642=, NC_000001.10:g.165391951G>T, NC_000001.11:g.165422714=, NG_029517.2:g.27642C>A, NC_000001.11:g.165422714G>C, NG_029517.2:g.27642C>G, NG_029517.1:g.27642C>A, NC_000001.10:g.165391951G>C +PA166153752 rs3768142 PA31272 MTR NC_000001.11:236865264 1 1 0 0 0 3768142, rs3768142, XM_011544194.1:c.2573+1710G>T, 59283581, NC_000001.10:g.237028564=, XM_006711769.2:c.2405+1710G>T, NM_001291939.1:c.2252+1710G>T, XM_005273144.1:c.1967+1710G>T, XM_006711770.1:c.1469+1710G>T, NM_001291940.1:c.1184+1710G>T, XM_005273141.1:c.2402+1710G>T, NC_000001.11:g.236865264=, rs59283581, XM_005273142.1:c.2315+1710G>T, XM_005273140.1:c.2573+1710G>T, NM_000254.2:c.2405+1710G>T, XM_005273141.3:c.2402+1710G>T, XM_005273145.1:c.767+1710G>T, NC_000001.11:g.236865264G>T, NG_008959.1:g.74984G>T, XM_005273143.1:c.2252+1710G>T, XM_011544193.1:c.2405+1710G>T, NC_000001.10:g.237028564G>T, NG_008959.1:g.74984= +PA166155579 rs376817657 PA121 CYP2A6 NC_000019.10:40844766 1 1 0 0 0 NP_000753.3:p.Glu390=, NP_000753.3:p.Glu390Gln, NG_008377.1:g.10682G>A, 376817657, NP_000753.3:p.Glu390Lys, NM_000762.5:c.1168G>A, NC_000019.10:g.40844766=, NG_008377.1:g.10682=, XM_005258568.1:c.1015G>A, NG_008377.1:g.10682G>C, NC_000019.9:g.41350671C>T, NC_000019.10:g.40844766C>G, rs376817657, NC_000019.9:g.41350671C>G, XP_005258625.1:p.Glu339Lys, NC_000019.9:g.41350671=, NC_000019.10:g.40844766C>T +PA166181131 rs3768652 PA26014 CACNB4 NC_000002.12:151869423 1 0 0 0 0 rs3768652, NC_000002.12:g.151869423=, 3768652, NC_000002.11:g.152725937C>A, NG_012641.1:g.234657=, NC_000002.12:g.151869423C>A, NG_012641.1:g.234657G>T, NC_000002.11:g.152725937= +PA166155708 rs3768728 PA27809 EPAS1 NC_000002.12:46363652 1 0 0 0 0 NM_001430.4:c.779+2562T>C, NC_000002.12:g.46363652=, NC_000002.11:g.46590791=, NC_000002.12:g.46363652T>C, NG_016000.1:g.71251T>C, XM_011532698.1:c.818+2562T>C, rs3768728, rs60273833, 3768728, NG_016000.1:g.71251=, NC_000002.11:g.46590791T>C, 60273833 +PA166155709 rs3770102 PA26056 CAPG NC_000002.12:85410714 1 1 0 0 0 NC_000002.11:g.85637837G>C, XM_005264583.1:c.-14+3270C>A, rs3770102, 3770102, NC_000002.11:g.85637837G>A, NC_000002.11:g.85637837=, XM_005264581.2:c.-962C>A, XM_011533123.1:c.-14+2429C>A, NC_000002.12:g.85410714G>A, NM_001747.3:c.-411C>A, NC_000002.12:g.85410714G>C, XM_005264581.1:c.-962C>A, XM_005264582.1:c.-446C>A, NC_000002.11:g.85637837G>T, XM_011533122.1:c.-14+7553C>A, NM_001256139.1:c.-14+3270C>A, NC_000002.12:g.85410714=, NC_000002.12:g.85410714G>T, NM_001256140.1:c.-411C>A +PA166157236 rs377085266 PA356 TPMT NC_000006.12:18130772 1 1 1 0 0 NC_000006.11:g.18131003=, XM_011514839.1:c.589T>C, XP_011513141.1:p.Cys197Arg, XM_011514840.1:c.565T>C, 377085266, NP_000358.1:p.Cys212Arg, NG_012137.2:g.29372=, NC_000006.12:g.18130772A>G, NP_000358.1:p.Cys212=, rs377085266, NC_000006.12:g.18130772=, XP_011513142.1:p.Cys189Arg, NG_012137.2:g.29372T>C, NM_000367.3:c.634T>C, NC_000006.11:g.18131003A>G +PA166159541 rs377143350 PA145 DPYD NC_000001.11:97593276 1 0 0 0 0 rs377143350, NC_000001.11:g.97593276C>T, NC_000001.10:g.98058832=, NC_000001.11:g.97593276=, NC_000001.10:g.98058832C>T, NP_000101.2:p.Arg357=, 377143350, NG_008807.2:g.332784=, NG_008807.2:g.332784G>A, NP_000101.2:p.Arg357His +PA166319161 rs377169736 PA145 DPYD NC_000001.11:97721648 1 0 0 0 0 NC_000001.10:g.98187204C>G, NG_008807.2:g.204412G>A, NG_008807.2:g.204412G>C, NC_000001.10:g.98187204=, NC_000001.11:g.97721648C>T, NP_000101.2:p.Met115Ile, 377169736, NG_008807.2:g.204412=, NC_000001.11:g.97721648=, rs377169736, NC_000001.11:g.97721648C>G, NP_000101.2:p.Met115=, NC_000001.10:g.98187204C>T +PA166179893 rs3771836 PA36302 TACR1 NC_000002.12:75153826 1 0 0 0 0 NG_029522.1:g.50694A>T, NC_000002.12:g.75153826T>A, NG_029522.1:g.50694=, NC_000002.11:g.75380952T>A, rs3771836, 3771836, NG_029522.1:g.50694A>C, NC_000002.11:g.75380952=, NC_000002.11:g.75380952T>G, NG_029522.1:g.50694A>G, NC_000002.11:g.75380952T>C, NC_000002.12:g.75153826T>C, 57315660, NC_000002.12:g.75153826=, 17565956, NC_000002.12:g.75153826T>G +PA166156378 rs3772809 PA363 UMPS NC_000003.12:124743977 1 1 0 0 0 XM_005247743.1:c.802A>G, XM_005247744.1:c.511A>G, NP_000364.1:p.Ile446Val, NG_017037.1:g.18612=, NR_033437.1:n.1541A>G, XP_005247801.1:p.Ile171Val, rs17843849, NC_000003.12:g.124743977A>G, XM_005247741.1:c.1060A>G, NP_000364.1:p.Ile446=, NM_000373.3:c.1336A>G, 17843849, NG_017037.1:g.18612A>G, NC_000003.11:g.124462824=, 52824449, NR_033434.1:n.1288A>G, XP_005247800.1:p.Ile268Val, rs52824449, NC_000003.11:g.124462824A>G, XP_005247798.1:p.Ile354Val, XP_005247799.1:p.Ile268Val, XM_005247742.1:c.802A>G, 3772809, NC_000003.12:g.124743977=, rs3772809 +PA166156379 rs3772810 PA363 UMPS NC_000003.12:124744112 1 1 0 0 0 rs3772810, NC_000003.11:g.124462959=, XM_005247742.1:c.*28A>G, rs17843850, NG_017037.1:g.18747=, NC_000003.11:g.124462959A>G, NR_033434.1:n.1423A>G, NR_033437.1:n.1676A>G, NM_000373.3:c.*28A>G, XM_005247741.1:c.*28A>G, 3772810, NC_000003.12:g.124744112A>G, XM_005247743.1:c.*28A>G, NC_000003.12:g.124744112=, 17843850, NG_017037.1:g.18747A>G, XM_005247744.1:c.*28A>G +PA166261343 rs377360 NC_000014.9:22553337 1 0 0 0 0 rs377360, 60266424, NC_000014.9:g.22553337=, NC_000014.8:g.23022276A>G, NC_000014.9:g.22553337T>A, NC_000014.8:g.23022276A>T, 377360, NC_000014.9:g.22553337T>G +PA166179919 rs3773679 PA27479 DRD3 NC_000003.12:114150488 1 0 0 0 0 rs3773679, NC_000003.11:g.113869335=, NG_008842.2:g.53920=, NG_008842.2:g.53920G>T, NC_000003.11:g.113869335C>G, NC_000003.12:g.114150488C>T, NC_000003.11:g.113869335C>A, 3773679, NC_000003.12:g.114150488=, NG_008842.2:g.53920G>A, NG_008842.2:g.53920G>C, NC_000003.12:g.114150488C>G, NC_000003.11:g.113869335C>T, NC_000003.12:g.114150488C>A +PA166156380 rs3774261 PA134933118 ADIPOQ NC_000003.12:186853770 2 0 0 0 0 XM_011513324.1:c.215-414A>G, NC_000003.11:g.186571559=, NM_004797.3:c.215-414A>G, NM_001177800.1:c.215-414A>G, rs60811615, NC_000003.12:g.186853770A>G, rs28973164, NR_046662.1:n.2086+8T>C, 59618226, NC_000003.11:g.186571559A>G, rs3774261, rs59618226, NG_021140.1:g.16097=, 28973164, NC_000003.12:g.186853770=, 3774261, NG_021140.1:g.16097A>G, 60811615 +PA166180967 rs377474103 PA85 CACNA1S NC_000001.11:201048683 1 0 0 0 0 377474103, NC_000001.11:g.201048683C>T, NG_009816.2:g.68884G>A, NG_009816.1:g.68884=, NC_000001.10:g.201017811=, NP_000060.2:p.Arg1447=, NG_009816.1:g.68884G>A, NC_000001.11:g.201048683=, NC_000001.10:g.201017811C>T, NG_009816.2:g.68884=, rs377474103, NP_000060.2:p.Arg1447Gln +PA166233181 rs3774932 PA248 NFKB1 NC_000004.12:102503036 1 0 0 0 0 3774932, 58383538, NG_050628.1:g.6708A>C, NC_000004.12:g.102503036=, NC_000004.12:g.102503036A>T, NG_050628.1:g.6708=, NG_050628.1:g.6708A>G, rs3774932, NC_000004.11:g.103424193A>C, NG_050628.1:g.6708A>T, NC_000004.12:g.102503036A>G, NC_000004.11:g.103424193A>G, NC_000004.12:g.102503036A>C, NC_000004.11:g.103424193=, NC_000004.11:g.103424193A>T +PA166162507 rs3774959 PA248 NFKB1 NC_000004.12:102589957 1 0 0 0 0 60344709, NC_000004.12:g.102589957G>C, NC_000004.11:g.103511114=, rs3774959, 13146911, NG_050628.1:g.93629G>C, NC_000004.12:g.102589957G>A, NC_000004.11:g.103511114G>C, NC_000004.12:g.102589957=, NC_000004.11:g.103511114G>A, NG_050628.1:g.93629=, 3774959, 56744918, 17032880, NG_050628.1:g.93629G>A +PA166156578 rs3775289 PA137 DCK NC_000004.12:70996957 2 0 0 0 0 NG_023303.1:g.8410T>C, NC_000004.11:g.71862674T>G, NC_000004.12:g.70996957T>C, NG_023303.1:g.8410T>A, NC_000004.12:g.70996957T>A, NM_000788.2:c.92-1110T>C, NG_023303.1:g.8410T>G, rs58983292, NC_000004.12:g.70996957T>G, rs3775289, NC_000004.12:g.70996957=, 3775289, NG_023303.1:g.8410=, NC_000004.11:g.71862674=, 58983292, NC_000004.11:g.71862674T>C, NC_000004.11:g.71862674T>A +PA166156579 rs3775291 PA36551 TLR3 NC_000004.12:186082920 2 2 0 0 0 NP_003256.1:p.Leu412=, rs386586050, rs52805499, NC_000004.12:g.186082920C>G, rs60096761, NG_007278.1:g.18766=, NG_007278.1:g.18766C>T, NC_000004.11:g.187004074C>T, rs56463237, NC_000004.12:g.186082920C>T, NM_003265.2:c.1234C>T, 3775291, 60096761, NC_000004.11:g.187004074=, NC_000004.12:g.186082920=, NP_003256.1:p.Leu412Val, 52805499, 386586050, NG_007278.1:g.18766C>G, NC_000004.11:g.187004074C>G, 56463237, rs3775291, NP_003256.1:p.Leu412Phe +PA166171167 rs3776332 PA134946198 ARHGAP26 NC_000005.10:143061949 1 0 0 0 0 NC_000005.9:g.142441514=, NG_016711.2:g.296580=, rs3776332, 3776332, NC_000005.10:g.143061949C>T, NG_016711.2:g.296580C>T, NC_000005.9:g.142441514C>T, NC_000005.10:g.143061949= +PA166208165 rs377674118 PA124 CYP2C19 NC_000010.11:94781979 1 0 0 0 0 NC_000010.11:g.94781979C>A, NC_000010.10:g.96541736=, NP_000760.1:p.Phe267=, NG_008384.3:g.24299=, rs377674118, NP_000760.1:p.Phe267Leu, NG_008384.3:g.24299C>A, 377674118, NC_000010.11:g.94781979=, NC_000010.10:g.96541736C>A, NC_000010.11:g.94781979C>T, NG_008384.3:g.24299C>T, NC_000010.10:g.96541736C>T +PA166183856 rs3778148 PA31945 OPRM1 NC_000006.12:154059877 1 1 0 0 0 NC_000006.12:g.154059877=, NC_000006.11:g.154381012=, NG_021208.2:g.54377=, rs3778148, NG_021208.2:g.54377G>T, 17275186, 3778148, NC_000006.12:g.154059877G>T, NC_000006.11:g.154381012G>T, 57261443 +PA166184666 rs3778150 PA31945 OPRM1 NC_000006.12:154062523 3 3 0 0 0 NC_000006.12:g.154062523T>C, 17275270, 17174694, NG_021208.2:g.57023=, NC_000006.11:g.154383658T>C, NG_021208.2:g.57023T>C, rs3778150, NC_000006.11:g.154383658=, 3778150, 61702623, NC_000006.12:g.154062523= +PA166157079 rs3778151 PA31945 OPRM1 NC_000006.12:154072545 6 1 0 0 0 NC_000006.11:g.154393680=, NM_001145286.2:c.291-17281T>C, NM_001145282.2:c.291-17281T>C, NR_104350.1:n.425-18407T>C, XR_245534.1:n.477-17281T>C, XM_011535849.1:c.570-17281T>C, XR_245537.1:n.477-18407T>C, NG_021208.2:g.67045=, NR_104351.1:n.425-17281T>C, NC_000006.12:g.154072545T>C, NM_001145284.3:c.291-17281T>C, NM_001145285.2:c.291-17281T>C, NM_000914.4:c.291-17281T>C, NM_001285522.1:c.290+32711T>C, NM_001285523.1:c.291-17281T>C, NM_001008504.3:c.291-17281T>C, NM_001008505.2:c.291-17281T>C, XR_245535.1:n.477-17281T>C, NG_021208.2:g.67045T>C, NM_001145280.3:c.-10-17281T>C, XM_005267002.1:c.477-17281T>C, rs17181122, NR_104349.1:n.425-17281T>C, XM_006715497.2:c.*5-970T>C, NC_000006.12:g.154072545=, XR_245536.1:n.477-17281T>C, NG_021208.1:g.67045T>C, NM_001008503.2:c.291-17281T>C, NM_001145279.3:c.570-17281T>C, NR_104348.1:n.425-17281T>C, 3778151, 17181122, NC_000006.11:g.154393680T>C, NM_001145281.2:c.48-17281T>C, NM_001285524.1:c.570-17281T>C, NM_001145283.2:c.291-17281T>C, rs3778151 +PA166177795 rs3778152 PA31945 OPRM1 NC_000006.12:154072696 1 1 0 0 0 3778152, NG_021208.2:g.67196A>G, rs3778152, NC_000006.11:g.154393831A>G, NC_000006.12:g.154072696=, NC_000006.11:g.154393831=, NG_021208.2:g.67196=, NC_000006.12:g.154072696A>G +PA166183705 rs3778156 PA31945 OPRM1 NC_000006.12:154083178 2 3 0 0 0 3778156, rs3778156, NC_000006.11:g.154404313=, NG_021208.2:g.77678A>G, NC_000006.12:g.154083178=, 57262977, NC_000006.12:g.154083178A>G, NC_000006.11:g.154404313A>G, NG_021208.2:g.77678= +PA166157080 rs3778504 PA154 SLC29A1 NC_000006.12:44221463 1 0 0 0 0 NM_004955.2:c.-52+1681G>A, rs3778504, NM_001078174.1:c.-55+1681G>A, NM_001304462.1:c.87-123G>A, NC_000006.11:g.44189200G>A, NM_001304465.1:c.24+1681G>A, 3778504, XM_011514341.1:c.87-123G>A, XM_005248875.1:c.87-123G>A, NM_001304466.1:c.24+1681G>A, XM_005248878.3:c.-159+1681G>A, NG_042893.1:g.6959=, NG_042893.1:g.6959G>A, NC_000006.11:g.44189200=, NC_000006.12:g.44221463=, XM_005248878.1:c.-159+1681G>A, NC_000006.12:g.44221463G>A +PA166177330 rs3779664 PA28587 GATA4 NC_000008.11:11749539 1 0 0 0 0 386586137, NC_000008.10:g.11607048G>A, 3779664, rs3779664, NG_008177.2:g.77621=, NC_000008.10:g.11607048=, NG_008177.2:g.77621G>A, NC_000008.11:g.11749539G>A, NC_000008.11:g.11749539= +PA166157594 rs3780126 PA432 GGH NC_000008.11:63037353 1 1 0 0 0 NM_003878.2:c.109+1307C>T, NG_028126.1:g.6699C>T, NC_000008.10:g.63949912=, XM_011517623.1:c.109+1307C>T, rs3780126, NG_028126.1:g.6699=, 3780126, 58946583, NC_000008.11:g.63037353G>A, rs58946583, NC_000008.10:g.63949912G>A, NC_000008.11:g.63037353= +PA166157765 rs3780412 PA35826,PA134880636 SLC1A1,SPATA6L NC_000009.12:4572480 1 0 0 0 0 NM_004170.5:c.767+92T>C, XM_011518007.1:c.836+92T>C, XM_011518008.1:c.776+92T>C, NG_017044.1:g.87054T>G, NC_000009.12:g.4572480=, rs58061521, NC_000009.12:g.4572480T>G, NC_000009.11:g.4572480T>C, NG_017044.1:g.87054T>C, NC_000009.12:g.4572480T>C, XR_242510.1:n.1480-18092A>G, XM_011518010.1:c.626+92T>C, NC_000009.11:g.4572480T>G, XM_011518009.1:c.707+92T>C, NC_000009.11:g.4572480=, NG_017044.1:g.87054=, rs3780412, 3780412, 58061521 +PA166157766 rs3780413 PA35826,PA134880636 SLC1A1,SPATA6L NC_000009.12:4567353 1 0 0 0 0 NC_000009.11:g.4567353=, NC_000009.11:g.4567353C>G, XM_011518009.1:c.424-316C>G, XM_011518008.1:c.493-316C>G, XM_011518007.1:c.553-316C>G, XM_011518010.1:c.343-316C>G, 13296335, NG_017044.1:g.81927C>G, NM_004170.5:c.484-316C>G, rs13296335, XR_242510.1:n.1480-12965G>C, NG_017044.1:g.81927=, NC_000009.12:g.4567353=, NC_000009.12:g.4567353C>G, rs3780413, 3780413 +PA166196165 rs3781719 PA26029 CALCA NC_000011.10:14972978 1 1 0 0 0 NC_000011.10:g.14972978A>G, NC_000011.9:g.14994524A>C, NC_000011.9:g.14994524=, NG_015960.1:g.4309T>C, rs3781719, NG_015960.1:g.4309=, 3781719, NG_015960.1:g.4309T>G, NC_000011.10:g.14972978=, NC_000011.10:g.14972978A>C, NC_000011.9:g.14994524A>G +PA166238581 rs3781727 PA35845 SLCO2B1 NC_000011.10:75204976 1 1 0 0 0 NG_027921.1:g.58990T>C, NC_000011.10:g.75204976T>G, NC_000011.9:g.74916021T>C, NC_000011.9:g.74916021=, NG_027921.1:g.58990T>G, 57071356, NC_000011.10:g.75204976=, NC_000011.10:g.75204976T>C, NC_000011.9:g.74916021T>G, rs3781727, 3781727, NG_027921.1:g.58990= +PA166180011 rs3782025 PA29556 HTR3B NC_000011.10:113936885 2 0 0 0 0 17614850, NG_011483.1:g.37019G>A, NC_000011.9:g.113807607=, NC_000011.10:g.113936885G>A, 58165125, NC_000011.10:g.113936885G>C, rs3782025, 3782025, NG_011483.1:g.37019=, NC_000011.9:g.113807607G>A, NC_000011.9:g.113807607G>C, NG_011483.1:g.37019G>C, NC_000011.10:g.113936885= +PA166160590 rs3782287 PA97 SCARB1 NC_000012.12:124804719 1 0 0 0 0 NC_000012.12:g.124804719G>C, NC_000012.11:g.125289265G>A, NC_000012.12:g.124804719G>A, rs3782287, 3782287, NG_028199.1:g.64255=, 61633794, NC_000012.11:g.125289265=, NG_028199.1:g.64255C>T, NC_000012.11:g.125289265G>C, NG_028199.1:g.64255C>G, NC_000012.12:g.124804719= +PA166154565 rs3782905 PA37301 VDR NC_000012.12:47872384 1 0 0 0 0 NG_008731.1:g.37648C>G, NM_000376.2:c.146+6584C>G, rs58878574, 3782905, NC_000012.12:g.47872384=, NG_008731.1:g.37648=, NC_000012.11:g.48266167G>C, XM_006719587.2:c.146+6584C>G, NC_000012.12:g.47872384G>C, NC_000012.11:g.48266167=, XM_011538720.1:c.146+6584C>G, NM_001017535.1:c.146+6584C>G, 58878574, rs3782905, NM_001017536.1:c.296+6584C>G +PA166180031 rs3783641 PA28608 GCH1 NC_000014.9:54893421 1 0 0 0 0 3783641, NC_000014.9:g.54893421=, rs3783641, NC_000014.9:g.54893421T>C, NC_000014.8:g.55360139=, NG_008647.1:g.14404=, NC_000014.8:g.55360139T>A, NG_008647.1:g.14404A>G, NC_000014.9:g.54893421T>A, NC_000014.8:g.55360139T>C, NG_008647.1:g.14404A>T +PA166155053 rs3784862 PA244 ABCC1 NC_000016.10:16017034 3 0 0 0 0 NC_000016.10:g.16017034G>C, NG_028268.1:g.72458G>C, NG_028268.1:g.72458G>A, 59892787, NT_187607.1:g.1674909A>G, XM_005255329.1:c.615+413G>A, NC_000016.10:g.16017034=, NC_000016.9:g.16110891G>A, NG_028268.2:g.72458=, NC_000016.10:g.16017034G>A, NG_028268.2:g.72458G>C, XM_011522498.1:c.669+413A>G, NT_187607.1:g.1674909A=, XM_011522498.1:c.669+413G>A, NM_004996.3:c.615+413A>G, NM_004996.3:c.615+413G>A, NG_028268.2:g.72458G>A, NC_000016.9:g.16110891=, NC_000016.10:g.16017034G=, XM_011522497.1:c.591+413A>G, XM_011522497.1:c.591+413G>A, XM_005255326.1:c.615+413G>A, XM_005255327.1:c.489+2406G>A, XM_005255328.1:c.477+413G>A, 3784862, NC_000016.9:g.16110891G>C, rs3784862, NG_028268.1:g.72458=, rs59892787, NG_028268.1:g.72458G= +PA166155054 rs3784864 PA244 ABCC1 NC_000016.10:16031468 2 1 0 0 0 17264945, 56505200, NG_028268.2:g.86892=, NC_000016.10:g.16031468G=, XM_005255329.1:c.616-1641G>A, XM_005255326.1:c.616-1641G>A, NG_028268.1:g.86892G=, rs56505200, NC_000016.9:g.16125325G>A, rs17264945, NG_028268.1:g.86892=, XM_005255327.1:c.490-1641G>A, NC_000016.10:g.16031468G>A, XM_011522498.1:c.670-1641A>G, XM_011522498.1:c.670-1641G>A, NC_000016.10:g.16031468=, NC_000016.9:g.16125325=, XM_005255328.1:c.478-1641G>A, 58170425, NM_004996.3:c.616-1641A>G, NM_004996.3:c.616-1641G>A, NG_028268.2:g.86892G>A, NT_187607.1:g.1689346A>G, rs3784864, XM_011522497.1:c.592-1641A>G, XM_011522497.1:c.592-1641G>A, 3784864, rs58170425, NG_028268.1:g.86892G>A, NT_187607.1:g.1689346A= +PA166183409 rs3784867 PA244 ABCC1 NC_000016.10:16109488 1 0 0 0 0 NG_028268.2:g.164912=, NC_000016.10:g.16109488C>T, 17841280, NG_028268.1:g.164912=, 56863498, NC_000016.9:g.16203345C>T, NG_028268.1:g.164912C>T, NG_028268.2:g.164912C>T, 58641883, 3784867, NC_000016.9:g.16203345=, NC_000016.10:g.16109488=, rs3784867 +PA166185466 rs3784921 PA134915251 TXNDC11 NC_000016.10:11680345 2 1 0 0 0 rs3784921, NC_000016.9:g.11774201=, NC_000016.10:g.11680345=, 60098558, NC_000016.9:g.11774201G>T, NC_000016.10:g.11680345G>T, 3784921 +PA166160972 rs3784943 PA26287 CDH13 NC_000016.10:83678830 1 0 0 0 0 rs3784943, NG_052819.1:g.1057037=, NC_000016.9:g.83712435=, NC_000016.9:g.83712435A>G, NC_000016.10:g.83678830A>G, NC_000016.10:g.83678830=, NG_052819.1:g.1057037A>G, 3784943 +PA166155055 rs3785143 PA310 SLC6A2 NC_000016.10:55661194 2 1 0 0 0 NC_000016.9:g.55695106C>T, XM_011523298.1:c.274+4226C>T, 56530353, NM_001043.3:c.274+4226C>T, rs3785143, XM_011523297.1:c.274+4226C>T, XM_011523295.1:c.274+4226C>T, 3785143, 60390089, NC_000016.10:g.55661194C>T, XM_011523296.1:c.274+4226C>T, XM_006721263.2:c.274+4226C>T, rs56530353, NG_016969.1:g.10565=, NM_001172501.1:c.274+4226C>T, NG_016969.1:g.10565C>T, NM_001172504.1:c.274+4226C>T, XR_933403.1:n.891+4226C>T, rs60390089, NC_000016.10:g.55661194=, NC_000016.9:g.55695106= +PA166181214 rs3785157 PA310 SLC6A2 NC_000016.10:55695924 1 0 0 0 0 NG_016969.1:g.45295C>T, 58624926, NG_016969.1:g.45295=, 3785157, rs3785157, NC_000016.9:g.55729836=, NC_000016.10:g.55695924=, NC_000016.10:g.55695924C>T, NC_000016.9:g.55729836C>T +PA166155056 rs3785161 PA134906523 CES1P1 NC_000016.10:55759783 4 1 0 0 0 NC_000016.9:g.55793695A>C, NC_000016.10:g.55759783A>C, NR_003276.2:n.-816A>C, NC_000016.10:g.55759783=, rs57307152, rs3785161, 57307152, 3785161, NC_000016.9:g.55793695= +PA166285381 rs3785873 PA205 ITGB3 NC_000017.11:47301872 1 0 0 0 0 NG_008332.2:g.53031G>A, rs3785873, 3785873, NC_000017.11:g.47301872G>A, NC_000017.10:g.45379238=, NC_000017.10:g.45379238G>T, NG_008332.2:g.53031=, NC_000017.11:g.47301872G>T, 59272854, NG_008332.2:g.53031G>T, NC_000017.11:g.47301872=, NC_000017.10:g.45379238G>A +PA166160182 rs3785877 PA26874 CRHR1 NC_000017.11:45814822 1 0 0 0 0 NC_000017.10:g.43892188G>A, rs3785877, 3785877, 58183495, NG_009902.1:g.35560=, NG_009902.1:g.35560G>A, NC_000017.11:g.45814822G>A, 139963299, NC_000017.11:g.45814822=, NC_000017.10:g.43892188= +PA166195108 rs3785883 PA238 MAPT NC_000017.11:45977067 1 0 0 0 0 NG_007398.2:g.87605=, NC_000017.10:g.44054433=, 117638723, NC_000017.11:g.45977067=, NG_007398.1:g.87646G>A, 3785883, rs3785883, 116686818, NC_000017.10:g.44054433A>G, 59771570, NC_000017.11:g.45977067A>G, 17572481, NG_007398.2:g.87605A>G +PA166155215 rs3786047 PA60 ARRB2 NC_000017.11:4711803 7 0 0 0 0 NM_001257330.1:c.23+1059A>G, XM_011523858.1:c.116+914A>G, rs12945492, rs36095488, NM_001257331.1:c.23+1059A>G, XM_011523859.1:c.116+914A>G, NC_000017.10:g.4615098=, 36095488, NR_047516.1:n.251+1059A>G, rs60173149, NC_000017.11:g.4711803A>T, NM_001257329.1:c.23+1059A>G, 60173149, NC_000017.11:g.4711803A>G, XM_006721520.1:c.-478+1059A>G, NC_000017.10:g.4615098A>G, NC_000017.11:g.4711803=, NC_000017.11:g.4711803A>C, NC_000017.10:g.4615098A>C, NM_004313.3:c.23+1059A>G, rs3786047, 3786047, NC_000017.10:g.4615098A>T, NM_199004.1:c.23+1059A>G, NM_001257328.1:c.23+1059A>G, 12945492 +PA166181099 rs3786362 PA359 TYMS NC_000018.10:662247 1 0 0 0 0 NG_028255.1:g.9644=, NG_028255.1:g.9644A>G, NC_000018.10:g.662247=, NC_000018.9:g.662247=, 16948229, NC_000018.9:g.662247A>G, 57302279, NC_000018.10:g.662247A>G, rs3786362, 3786362, NP_001062.1:p.Glu127= +PA166155411 rs3786547 PA123 CYP2B6 NC_000019.10:41000286 1 1 0 0 0 NG_007929.1:g.13988=, XM_005258569.1:c.172-3715T>C, NC_000019.10:g.41000286=, XM_005258569.3:c.172-3715T>C, XM_011526546.1:c.172-3715T>C, XM_005258570.1:c.172-3715T>C, NM_000767.4:c.172-3715T>C, NG_007929.1:g.13988T>C, NC_000019.9:g.41506191=, 3786547, rs3786547, NG_007929.1:g.13988T>A, NC_000019.10:g.41000286T>C, XM_011526547.1:c.172-3715T>C, NC_000019.10:g.41000286T>A, XM_006723050.2:c.172-3715T>C, XM_011526548.1:c.172-3715T>C, NC_000019.9:g.41506191T>A, NC_000019.9:g.41506191T>C +PA166184546 rs3787138 PA26490 CHRNA4 NC_000020.11:63347872 1 1 0 0 0 3787138, rs3787138, NC_000020.11:g.63347872G>T, NC_000020.11:g.63347872=, NG_011931.1:g.18472C>T, NG_011931.1:g.18472=, 58877798, NC_000020.10:g.61979224=, NC_000020.10:g.61979224G>T, NG_011931.1:g.18472C>A, NC_000020.11:g.63347872G>A, NC_000020.10:g.61979224G>A +PA166184548 rs3787140 PA26490 CHRNA4 NC_000020.11:63357759 1 1 0 0 0 NG_011931.1:g.8585A>G, NC_000020.10:g.61989111=, NG_011931.1:g.8585=, NC_000020.11:g.63357759T>C, NC_000020.11:g.63357759=, 3787140, rs3787140, NC_000020.10:g.61989111T>C +PA166155939 rs3787186 PA31583 NFATC2 NC_000020.11:51536805 2 0 0 0 0 NC_000020.10:g.50153344T>C, XM_005260413.1:c.130+5565A>G, NC_000020.11:g.51536805=, NC_000020.10:g.50153344T>A, rs61514015, XM_011528825.1:c.71-12695A>G, 3787186, rs3787186, XM_011528824.1:c.130+5565A>G, NM_001258296.1:c.-14+5565A>G, NM_173091.3:c.130+5565A>G, NM_001258292.1:c.71-12695A>G, NC_000020.11:g.51536805T>G, NM_012340.4:c.130+5565A>G, rs56471074, NC_000020.10:g.50153344=, NM_001258295.1:c.-13-13209A>G, XM_011528826.1:c.-13-13209A>G, 56739286, 56471074, NC_000020.11:g.51536805T>C, NC_000020.11:g.51536805T>A, NM_001258297.1:c.-14+5565A>G, rs56739286, NM_001258294.1:c.-13-13209A>G, 61514015, NM_001136021.2:c.71-12695A>G, NC_000020.10:g.50153344T>G +PA166155940 rs3787429 PA29458 HRH3 NC_000020.11:62216348 2 1 0 0 0 XM_005260266.1:c.996G>A, NC_000020.11:g.62216348C>T, 60759591, NC_000020.10:g.60791404C>T, XM_005260267.1:c.822-66G>A, NC_000020.11:g.62216348=, rs3787429, XP_005260323.1:p.Ser332=, rs60759591, XM_005260267.3:c.822-66G>A, XM_005260268.1:c.821+175G>A, NC_000020.11:g.62216348C>G, XM_005260266.2:c.996G>A, NM_007232.2:c.996G>A, NC_000020.10:g.60791404=, NC_000020.10:g.60791404C>G, NP_009163.2:p.Ser332=, 3787429 +PA166155941 rs3787430 PA29458 HRH3 NC_000020.11:62216366 1 1 0 0 0 XM_005260267.1:c.822-84G>A, NC_000020.11:g.62216366=, NC_000020.10:g.60791422=, NC_000020.11:g.62216366C>T, NM_007232.2:c.978G>A, XM_005260268.1:c.821+157G>A, 3787430, rs3787430, XM_005260266.1:c.978G>A, NC_000020.10:g.60791422C>T, XM_005260266.2:c.978G>A, NC_000020.11:g.62216366C>G, NP_009163.2:p.Pro326=, XM_005260267.3:c.822-84G>A, XP_005260323.1:p.Pro326=, NC_000020.10:g.60791422C>G +PA166155942 rs3787554 PA27097 CYP24A1 NC_000020.11:54166141 1 0 0 0 0 XM_005260304.3:c.641-308C>T, NG_008334.1:g.12837=, XM_005260304.1:c.641-308C>T, NG_008334.1:g.12837C>T, NC_000020.10:g.52782680G>A, NC_000020.11:g.54166141=, 3787554, rs3787554, NC_000020.11:g.54166141G>A, XM_005260305.1:c.641-308C>T, NC_000020.10:g.52782680=, NM_001128915.1:c.641-308C>T, NM_000782.4:c.641-308C>T +PA166156005 rs3788189 PA327 SLC19A1 NC_000021.9:45516669 1 1 0 0 0 NG_028278.2:g.51475A>C, NC_000021.9:g.45516669=, NM_194255.2:c.1294-529A>C, XM_011529710.1:c.940-529A>C, XM_011529704.1:c.1294-529A>C, XM_011529701.1:c.1294-529A>C, XM_011529705.1:c.1585-1517A>C, NC_000021.9:g.45516669T>G, XM_011529707.1:c.1584+9148A>C, XM_011529699.1:c.1321-529A>C, rs57533517, XM_011529708.1:c.1294-529A>C, XM_011529709.1:c.940-529A>C, XM_011529702.1:c.1294-529A>C, NG_028278.2:g.51475=, 57533517, rs3788189, XM_011529696.1:c.1585-529A>C, 3788189, NC_000021.8:g.46936583=, XM_011529698.1:c.1360-529A>C, XM_011529700.1:c.1294-529A>C, XM_011529697.1:c.1585-529A>C, NM_001205206.1:c.1294-1517A>C, XM_011529703.1:c.1294-529A>C, XM_011529706.1:c.1156-529A>C, XM_005261163.1:c.1294-529A>C, NG_028278.1:g.30803A>C, XM_005261164.1:c.940-529A>C, XM_005261164.2:c.940-529A>C, NC_000021.8:g.46936583T>G, NM_001205207.1:c.1174-529A>C +PA166170691 rs3788200 PA327 SLC19A1 NC_000021.9:45536657 4 0 0 0 0 NC_000021.9:g.45536657=, rs3788200, NC_000021.8:g.46956571=, NG_028278.2:g.31487T>C, 3788200, 59332753, NG_028278.2:g.31487=, NC_000021.8:g.46956571A>G, NC_000021.9:g.45536657A>G +PA166180050 rs3788339 PA28775,PA34878 GNAZ,RSPH14 NC_000022.11:23075491 1 0 0 0 0 3788339, NC_000022.10:g.23417677A>G, 59566420, NC_000022.10:g.23417677=, rs3788339, NC_000022.11:g.23075491=, NC_000022.11:g.23075491A>G +PA166220461 rs3788853 NC_000023.11:129736814 3 1 0 0 0 NC_000023.11:g.129736814C>A, 386586326, 59763587, NG_011479.1:g.2846C>T, NC_000023.10:g.128870791C>T, NC_000023.11:g.129736814=, 3788853, NC_000023.11:g.129736814C>T, NG_011479.1:g.2846=, rs3788853, NG_011479.1:g.2846C>A, NC_000023.10:g.128870791C>A, NC_000023.10:g.128870791= +PA166157380 rs3789243 PA267 ABCB1 NC_000007.14:87591570 8 1 0 0 0 17249072, 386586333, NC_000007.14:g.87591570=, rs3789243, 3789243, NC_000007.14:g.87591570A>G, NC_000007.13:g.87220886A>T, rs59537951, NM_000927.4:c.117+4196T>C, NG_011513.1:g.126679=, NG_011513.1:g.126679T>C, rs17249072, NC_000007.14:g.87591570A>T, NG_011513.1:g.126679T>A, rs386586333, NC_000007.13:g.87220886A>G, 59537951, NC_000007.13:g.87220886= +PA166160904 rs3790387 PA145 DPYD NC_000001.11:97679300 1 0 0 0 0 NC_000001.10:g.98144856=, NG_008807.2:g.246760A>G, 199469521, NC_000001.11:g.97679300T>C, rs3790387, NC_000001.10:g.98144856T>C, 3790387, NC_000001.11:g.97679300=, NG_008807.2:g.246760= +PA166205743 rs3791878 PA28507 GAD1 NC_000002.12:170815681 1 0 0 0 0 57490158, NG_021477.1:g.3992G>T, 386586388, NC_000002.12:g.170815681=, NC_000002.11:g.171672191G>T, NC_000002.11:g.171672191=, NC_000002.12:g.170815681G>T, NG_021477.1:g.3992=, rs3791878, 3791878 +PA166155711 rs3792269 PA26058 CAPN10 NC_000002.12:240592062 1 1 0 0 0 rs3792269, 61663703, NP_075571.1:p.Pro200=, XM_005246988.1:c.600A>G, XR_241430.1:n.787A>G, NP_075571.2:p.Pro200=, NG_011558.2:g.10347A>G, NM_023083.3:c.600A>G, XP_005247045.1:p.Pro200=, NC_000002.12:g.240592062A>G, NM_023085.3:c.600A>G, 3792269, XR_241428.1:n.787A>G, rs17846966, 17846966, NC_000002.12:g.240592062=, NC_000002.11:g.241531479A>G, XR_241429.1:n.787A>G, NC_000002.11:g.241531479=, NG_011558.2:g.10347=, NP_075573.2:p.Pro200=, rs61663703, XR_241431.1:n.787A>G +PA166182269 rs3792452 PA28996 GRM7 NC_000003.12:7625097 2 0 0 0 0 rs3792452, NC_000003.12:g.7625097C>T, NG_029781.1:g.768983C>T, NG_029781.1:g.768983=, NC_000003.11:g.7666784=, 3792452, NC_000003.11:g.7666784C>T, 117519740, 60896720, NC_000003.12:g.7625097= +PA166156381 rs3792581 PA395 ABCC5 NC_000003.12:183978082 1 0 0 0 0 NM_005688.3:c.1296+421G>T, XM_005247058.3:c.1296+421G>T, XM_005247061.1:c.1296+421G>T, XM_011512315.1:c.1296+421G>T, 59219227, 3792581, rs3792581, NC_000003.11:g.183695870C>A, NG_047115.1:g.44929G>T, NG_047115.1:g.44929=, XM_011512314.1:c.1296+421G>T, XM_005247059.3:c.1296+421G>T, XM_011512316.1:c.-236+421G>T, XM_005247059.1:c.1296+421G>T, NM_001320032.1:c.-236+421G>T, rs59219227, XM_005247058.1:c.1296+421G>T, XM_005247060.1:c.1296+421G>T, NC_000003.12:g.183978082C>A, XM_005247062.1:c.-236+421G>T, NC_000003.12:g.183978082=, NC_000003.11:g.183695870= +PA166154034 rs3793790 PA26448 CHAT NC_000010.11:49632690 2 1 0 0 0 NC_000010.11:g.49632690G>A, 59782324, NM_020986.3:c.757+4905G>A, NC_000010.11:g.49632690G>C, 3793790, NM_001142933.1:c.865+4905G>A, NC_000010.10:g.50840736G>C, NC_000010.10:g.50840736G>A, NM_001142929.1:c.757+4905G>A, NM_001142934.1:c.757+4905G>A, NC_000010.11:g.49632690=, NM_020549.4:c.1111+4905G>A, NG_011797.1:g.28596=, rs59782324, NM_020984.3:c.757+4905G>A, NC_000010.10:g.50840736=, NM_020985.3:c.757+4905G>A, rs3793790, NG_011797.1:g.28596G>A, NG_011797.1:g.28596G>C +PA166154035 rs3793791 PA26448 CHAT NC_000010.11:49633658 1 0 0 0 0 NC_000010.11:g.49633658=, 3793791, 56496455, rs3793791, NG_011797.1:g.29564=, NG_011797.1:g.29564C>T, rs56687561, NM_020549.4:c.1111+5873C>T, NC_000010.11:g.49633658C>G, NC_000010.10:g.50841704=, NM_001142933.1:c.865+5873C>T, NM_020985.3:c.757+5873C>T, NC_000010.10:g.50841704C>G, NM_001142929.1:c.757+5873C>T, NC_000010.11:g.49633658C>T, NM_020986.3:c.757+5873C>T, NC_000010.10:g.50841704C>T, NM_020984.3:c.757+5873C>T, NM_001142934.1:c.757+5873C>T, NG_011797.1:g.29564C>G, rs56496455, 56687561 +PA166154036 rs3793797 PA26448 CHAT NC_000010.11:49649803 1 0 0 0 0 NC_000010.11:g.49649803C>G, rs3793797, NG_011797.1:g.45709C>T, 3793797, NG_011797.1:g.45709=, 56811317, NC_000010.10:g.50857849C>G, 36154365, NC_000010.10:g.50857849C>T, NM_020986.3:c.1157+167C>T, NG_011797.1:g.45709C>G, NM_001142933.1:c.1265+167C>T, NM_001142934.1:c.1157+167C>T, NM_020984.3:c.1157+167C>T, NM_001142929.1:c.1157+167C>T, NC_000010.11:g.49649803C>T, rs36154365, rs56811317, NC_000010.10:g.50857849=, NM_020549.4:c.1511+167C>T, NM_020985.3:c.1157+167C>T, NC_000010.11:g.49649803= +PA166154037 rs3793798 PA26448 CHAT NC_000010.11:49663420 1 0 0 0 0 NM_001142934.1:c.1623+638T>A, NC_000010.10:g.50871466T>A, NM_001142933.1:c.1731+638T>A, rs3793798, NC_000010.10:g.50871466T>C, rs59172882, NM_020986.3:c.1623+638T>A, NM_020549.4:c.1977+638T>A, NM_020985.3:c.1623+638T>A, 3793798, NC_000010.11:g.49663420=, NM_020984.3:c.1623+638T>A, NC_000010.10:g.50871466=, NG_011797.1:g.59326T>C, NC_000010.11:g.49663420T>C, 59172882, NC_000010.11:g.49663420T>A, NM_001142929.1:c.1623+638T>A, NG_011797.1:g.59326T>A, NG_011797.1:g.59326= +PA166154038 rs3793800 PA26448 CHAT NC_000010.11:49663670 1 0 0 0 0 58251637, NG_011797.1:g.59576=, 17177963, NC_000010.10:g.50871716=, 3793800, rs17177963, rs3793800, NM_020985.3:c.1623+888A>G, rs58251637, NC_000010.11:g.49663670A>G, NM_020984.3:c.1623+888A>G, NG_011797.1:g.59576A>G, NC_000010.11:g.49663670=, NM_020549.4:c.1977+888A>G, NM_001142934.1:c.1623+888A>G, NC_000010.10:g.50871716A>G, NM_001142929.1:c.1623+888A>G, NM_020986.3:c.1623+888A>G, NM_001142933.1:c.1731+888A>G +PA166154039 rs3793801 PA26448 CHAT NC_000010.11:49664866 1 0 0 0 0 NG_011797.1:g.60772=, NP_066265.3:p.Ile571=, rs17784428, NP_066264.3:p.Ile571=, 3793801, rs3793801, NP_065574.3:p.Ile689=, NP_001136406.1:p.Ile571=, NM_001142929.1:c.1713C>T, 17784428, NC_000010.10:g.50872912C>T, NC_000010.10:g.50872912=, NM_001142933.1:c.1821C>T, NG_011797.1:g.60772C>T, rs58588938, NP_001136405.1:p.Ile607=, NP_001136401.1:p.Ile571=, NM_020549.4:c.2067C>T, NM_020986.3:c.1713C>T, NC_000010.11:g.49664866C>T, 58588938, NM_001142934.1:c.1713C>T, NM_020984.3:c.1713C>T, NM_020985.3:c.1713C>T, NP_066266.3:p.Ile571=, NC_000010.11:g.49664866= +PA166154402 rs3794087 PA35827 SLC1A2 NC_000011.10:35308068 1 0 0 0 0 NM_004171.3:c.562-1826C>A, XM_011520286.1:c.610-1826C>A, 56745424, XM_005253067.1:c.553-1826C>A, XM_011520285.1:c.550-1826C>A, NC_000011.9:g.35329615G>T, 3794087, NC_000011.10:g.35308068G>T, XM_011520287.1:c.610-1826C>A, NM_001252652.1:c.535-1826C>A, XM_011520284.1:c.610-1826C>A, rs56745424, NM_001195728.2:c.535-1826C>A, NG_008727.1:g.116491C>A, NG_008727.2:g.116491C>A, NC_000011.10:g.35308068=, NG_008727.1:g.116491=, rs3794087, NG_008727.2:g.116491=, XM_005253066.1:c.610-1826C>A, NC_000011.9:g.35329615= +PA166154566 rs3794271 PA37815 SLCO1C1 NC_000012.12:20707159 8 1 0 0 0 NM_017435.4:c.404+1078G>A, NC_000012.11:g.20860093G>C, XM_011520708.1:c.50+1078G>A, XM_011520709.1:c.50+1078G>A, XM_005253397.2:c.404+1078G>A, 57295874, NC_000012.11:g.20860093G>A, NC_000012.12:g.20707159G>A, NC_000012.11:g.20860093=, NC_000012.12:g.20707159G>C, XM_005253394.1:c.404+1078G>A, NM_001145946.1:c.404+1078G>A, XR_931308.1:n.759+1078G>A, XM_011520707.1:c.50+1078G>A, XM_011520704.1:c.404+1078G>A, rs3794271, 3794271, XM_011520710.1:c.404+1078G>A, NC_000012.12:g.20707159=, XM_005253395.1:c.404+1078G>A, XM_011520706.1:c.50+1078G>A, XM_011520703.1:c.404+1078G>A, XM_005253397.1:c.404+1078G>A, XM_005253396.1:c.50+1078G>A, NM_001145944.1:c.50+1078G>A, XM_011520711.1:c.-150+1078G>A, XM_011520705.1:c.404+1078G>A, NM_001145945.1:c.404+1078G>A, rs57295874 +PA166155057 rs3794619 PA380 CACNA1H NC_000016.10:1197482 1 0 0 0 0 XM_005255657.1:c.644-1133T>C, NC_000016.10:g.1197482T>C, rs3794619, 3794619, XM_005255652.1:c.644-1133T>C, XM_005255655.1:c.644-1133T>C, XR_932960.1:n.746-1133T>C, XM_011522724.1:c.98-1133T>C, NC_000016.9:g.1247482=, XM_005255654.1:c.644-1133T>C, NM_001005407.1:c.644-1133T>C, XM_006720969.2:c.644-1133T>C, XM_006720963.2:c.644-1133T>C, rs57683883, NG_012647.1:g.49242T>C, XM_005255653.1:c.644-1133T>C, 57683883, XM_006720967.2:c.644-1133T>C, XM_011522727.1:c.644-1133T>C, XM_006720964.2:c.644-1133T>C, XM_005255652.3:c.644-1133T>C, XM_006720965.2:c.644-1133T>C, XM_006720968.2:c.644-1133T>C, XM_011522726.1:c.644-1133T>C, NC_000016.10:g.1197482=, XM_005255656.1:c.644-1133T>C, NG_012647.1:g.49242=, NM_021098.2:c.644-1133T>C, NC_000016.9:g.1247482T>C +PA166160457 rs3795247 PA37469 ZNF100 NC_000019.10:21723626 1 0 0 0 0 rs3795247, 3795247, 60502146, NG_054926.1:g.49003=, NC_000019.10:g.21723626=, NC_000019.9:g.21906428T>C, NC_000019.10:g.21723626T>C, NC_000019.9:g.21906428=, NG_054926.1:g.49003A>G +PA166160062 rs37972 PA38657 GLCCI1 NC_000007.14:7967878 1 0 0 0 0 58304056, rs37972, NC_000007.13:g.8007509T>C, NG_032073.1:g.4136T>G, NC_000007.13:g.8007509=, NC_000007.13:g.8007509T>A, NC_000007.14:g.7967878T>G, NG_032073.1:g.4136T>A, 10340449, NC_000007.13:g.8007509T>G, NG_032073.1:g.4136T>C, 37972, NC_000007.14:g.7967878T>A, NC_000007.14:g.7967878=, NG_032073.1:g.4136=, NC_000007.14:g.7967878T>C +PA166157244 rs37973 PA38657 GLCCI1 NC_000007.14:7968245 4 1 0 0 0 NC_000007.13:g.8007876G=, NC_000007.14:g.7968245G>A, XR_927011.1:n.585G>A, NC_000007.14:g.7968245G>C, 58886078, XM_005249606.1:c.-1106G=, NR_110018.1:n.209+299C>T, NC_000007.13:g.8007876G>T, rs10350539, NM_138426.3:c.-1106G=, rs58886078, XR_927012.1:n.991G>A, 37973, NC_000007.14:g.7968245G=, NC_000007.13:g.8007876G>C, NG_032073.1:g.4503G=, 10350539, NC_000007.13:g.8007876G>A, NR_110018.1:n.209+299C=, XR_927011.1:n.585G=, NG_032073.1:g.4503=, NM_138426.3:c.-1106G>A, NC_000007.13:g.8007876=, NG_032073.1:g.4503G>T, XR_927012.1:n.991G=, NC_000007.14:g.7968245=, XM_005249608.1:c.-1106G>A, XM_005249606.1:c.-1106G>A, NC_000007.14:g.7968245G>T, XM_005249607.1:c.-1106G=, XM_005249608.1:c.-1106G=, NG_032073.1:g.4503G>A, rs37973, NG_032073.1:g.4503G>C, XM_005249607.1:c.-1106G>A +PA166160065 rs37976 PA38657 GLCCI1 NC_000007.14:7975326 1 0 0 0 0 10385537, NC_000007.13:g.8014957C>T, NC_000007.13:g.8014957=, NG_032073.1:g.11584C>T, NG_032073.1:g.11584=, 37976, NC_000007.14:g.7975326C>T, 57279446, NC_000007.14:g.7975326=, rs37976 +PA166157081 rs3798220 PA30432 LPA NC_000006.12:160540105 2 0 0 0 0 NG_016147.1:g.131271A>G, NC_000006.11:g.160961137=, rs52832866, NC_000006.12:g.160540105T>C, NG_016147.1:g.131271=, NP_005568.2:p.Ile1891Met, XM_005266985.1:c.5511A>G, NC_000006.11:g.160961137T>C, NC_000006.12:g.160540105=, NM_005577.2:c.5673A>G, 52832866, XP_005267042.1:p.Ile1837Met, 3798220, NP_005568.2:p.Ile1891=, rs3798220 +PA166157082 rs3798577 PA156 ESR1 NC_000006.12:152099995 1 0 0 0 0 NM_001291241.1:c.*1029T>C, rs3798577, 3798577, NG_008493.1:g.414500T>C, rs61649397, NM_000125.3:c.*1029T>C, NG_008493.2:g.448305=, 61649397, XM_006715375.2:c.*1029T>C, NM_001291230.1:c.*1029T>C, XM_006715374.2:c.*1232T>C, 17847081, rs17303147, NC_000006.12:g.152099995=, NC_000006.12:g.152099995T>C, XM_011535548.1:c.*1029T>C, XM_011535549.1:c.*1029T>C, XM_011535544.1:c.*1029T>C, NG_008493.2:g.448305T>C, XM_011535543.1:c.*1029T>C, XM_011535545.1:c.*1029T>C, NM_001122740.1:c.*1029T>C, XM_011535546.1:c.*1029T>C, 17303147, NC_000006.11:g.152421130=, NM_001122741.1:c.*1029T>C, NM_001122742.1:c.*1029T>C, rs17847081, NC_000006.11:g.152421130T>C +PA166177788 rs3798676 PA31945 OPRM1 NC_000006.12:154043004 2 1 0 0 0 NC_000006.11:g.154364139=, NC_000006.11:g.154364139C>T, 57999759, NC_000006.12:g.154043004C>T, rs3798676, 3798676, NC_000006.12:g.154043004=, NG_021208.2:g.37504C>T, NG_021208.2:g.37504= +PA166185642 rs3798677 PA31945 OPRM1 NC_000006.12:154084846 1 0 0 0 0 NG_021208.2:g.79346=, NC_000006.11:g.154405981=, NC_000006.12:g.154084846=, rs3798677, NC_000006.12:g.154084846A>G, 3798677, NC_000006.11:g.154405981A>G, NG_021208.2:g.79346A>G +PA166185643 rs3798678 PA31945 OPRM1 NC_000006.12:154084916 1 0 0 0 0 NC_000006.12:g.154084916A>C, 3798678, NC_000006.11:g.154406051=, NC_000006.11:g.154406051A>C, rs3798678, NG_021208.2:g.79416=, NC_000006.11:g.154406051A>G, NG_021208.2:g.79416A>G, NC_000006.12:g.154084916A>G, NG_021208.2:g.79416A>C, NC_000006.12:g.154084916= +PA166180170 rs3798683 PA31945 OPRM1 NC_000006.12:154097279 4 0 0 0 0 NC_000006.11:g.154418414=, NC_000006.12:g.154097279=, NC_000006.12:g.154097279G>A, 56783220, NG_021208.2:g.91779=, rs3798683, 3798683, 56463931, NC_000006.11:g.154418414G>A, NG_021208.2:g.91779G>A +PA166184591 rs3798688 PA31945 OPRM1 NC_000006.12:154117756 1 0 0 0 0 NG_021208.2:g.112256G>T, rs3798688, NC_000006.11:g.154438891=, NG_021208.2:g.112256=, 3798688, NC_000006.11:g.154438891G>T, NC_000006.12:g.154117756G>T, NC_000006.12:g.154117756= +PA166160075 rs37990 PA38657 GLCCI1 NC_000007.14:7987543 1 0 0 0 0 10371108, 17507321, NG_032073.1:g.23801A>G, 37990, 13231845, NC_000007.14:g.7987543A>C, rs37990, NG_032073.1:g.23801A>C, NC_000007.14:g.7987543A>G, NC_000007.13:g.8027174A>T, NC_000007.14:g.7987543=, NC_000007.13:g.8027174A>C, NG_032073.1:g.23801=, NG_032073.1:g.23801A>T, 60084190, NC_000007.14:g.7987543A>T, NC_000007.13:g.8027174=, NC_000007.13:g.8027174A>G +PA166157083 rs3800373 PA28162 FKBP5 NC_000006.12:35574699 7 1 0 0 0 NC_000006.11:g.35542476C>A, rs3800373, 3800373, NM_004117.3:c.*1136G>T, NC_000006.11:g.35542476C>G, rs386586584, NC_000006.11:g.35542476=, NC_000006.12:g.35574699C>A, NM_001145776.1:c.*1136G>T, 60032290, NG_012645.2:g.158885G>T, XR_242006.1:n.180-18331C>A, XR_242006.2:n.433-18331C>A, NC_000006.12:g.35574699C>G, NM_001145775.2:c.*1136G>T, NG_012645.2:g.158885=, NC_000006.12:g.35574699=, XR_242008.1:n.201-18331C>A, 386586584, rs60032290, NG_012645.2:g.158885G>C +PA166180804 rs3800959 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99669165 1 0 0 0 0 3800959, 58488788, 386586596, NC_000007.13:g.99266788A>G, NC_000007.14:g.99669165=, NG_007938.1:g.15834T>C, NG_007938.1:g.15834=, NC_000007.14:g.99669165A>G, NC_000007.13:g.99266788=, rs3800959 +PA166160077 rs38010 PA38657 GLCCI1 NC_000007.14:8002758 1 0 0 0 0 38010, 60020958, rs38010, NC_000007.14:g.8002758=, NC_000007.13:g.8042389=, NG_032073.1:g.39016C>T, NC_000007.13:g.8042389C>T, NG_032073.1:g.39016=, NC_000007.14:g.8002758C>T +PA166176855 rs3801266 PA162396933 NAMPT NC_000007.14:106283804 2 0 0 0 0 rs3801266, 57258134, 3801266, 57065453, NC_000007.14:g.106283804=, NC_000007.14:g.106283804T>C, NC_000007.13:g.105924250=, NC_000007.13:g.105924250T>C +PA166170633 rs3802201 NC_000008.11:74603964 2 0 0 0 0 NC_000008.10:g.75516199G>C, NC_000008.11:g.74603964G>C, rs3802201, NG_008071.2:g.697C>G, 3802201, NC_000008.11:g.74603964=, NG_008071.2:g.697=, NC_000008.10:g.75516199=, 58772878 +PA166206202 rs3802279 PA31943 OPRK1 NC_000008.11:53228388 2 1 0 0 0 NC_000008.11:g.53228388C>T, 3802279, rs3802279, 59896947, NC_000008.11:g.53228388=, NC_000008.10:g.54140948=, NC_000008.10:g.54140948C>T +PA166206221 rs3802281 PA31943 OPRK1 NC_000008.11:53228603 2 1 0 0 0 61153005, NC_000008.10:g.54141163T>C, NC_000008.11:g.53228603T>C, NC_000008.10:g.54141163=, rs3802281, NC_000008.11:g.53228603=, 3802281 +PA166293483 rs3803189 PA193 HTR2A NC_000013.11:46834435 1 0 0 0 0 rs3803189, 3803189, 58057780, NC_000013.10:g.47408570T>G, NC_000013.11:g.46834435=, NC_000013.11:g.46834435T>G, NC_000013.10:g.47408570=, NG_013011.1:g.67600=, NG_013011.1:g.67600A>C +PA166154801 rs3803300 PA24684,PA144596242 AKT1,ZBTB42 NC_000014.9:104803442 2 1 0 0 0 rs3803300, 3803300, NG_042073.1:g.7262T>A, NC_000014.9:g.104803442T>C, NC_000014.9:g.104803442T>A, NG_042073.1:g.7262T>C, rs58393250, NC_000014.9:g.104803442=, NG_042073.1:g.7262=, NC_000014.8:g.105269779T>A, NC_000014.8:g.105269779=, NC_000014.8:g.105269779T>C, NM_001137601.2:c.*976T>C, 58393250 +PA166154802 rs3803304 PA24684 AKT1 NC_000014.9:104772809 1 0 0 0 0 NC_000014.8:g.105239146C>G, rs3803304, 3803304, NC_000014.9:g.104772809C>G, NG_012188.1:g.27936G>C, XM_005267401.1:c.1172+69G>C, NC_000014.9:g.104772809=, NM_001014431.1:c.1172+69G>C, NM_005163.2:c.1172+69G>C, XM_011536543.1:c.1172+69G>C, NC_000014.8:g.105239146=, XM_011536544.1:c.1172+69G>C, NM_001014432.1:c.1172+69G>C, XM_005267402.1:c.1169+69G>C, NG_012188.1:g.27936= +PA166180981 rs3803357 PA128394592 BAHD1 NC_000015.10:40459356 1 0 0 0 0 NP_055767.3:p.Gln298=, 3803357, rs3803357, NC_000015.10:g.40459356C>A, NC_000015.9:g.40751555C>G, 58920293, NC_000015.9:g.40751555C>A, NC_000015.9:g.40751555=, NP_055767.3:p.Gln298Glu, NC_000015.10:g.40459356=, 17845708, NC_000015.10:g.40459356C>G, 17858653, NP_055767.3:p.Gln298Lys +PA166156580 rs3804099 PA36550 TLR2 NC_000004.12:153703504 2 1 0 0 0 NM_003264.4:c.597T>C, 17846060, XM_005263193.2:c.597T>C, XM_005263196.2:c.597T>C, NM_001318795.1:c.597T>C, XM_011532215.1:c.597T>C, XM_011532216.1:c.597T>C, NP_001305718.1:p.Asn199=, NG_016229.1:g.24216=, NC_000004.11:g.154624656=, NP_001305725.1:p.Asn199=, NM_001318791.1:c.597T>C, NP_001305716.1:p.Asn199=, XM_005263194.1:c.597T>C, 3804099, XM_005263196.1:c.597T>C, XM_005263197.2:c.597T>C, 57733625, 17859054, NC_000004.12:g.153703504T>C, NP_001305719.1:p.Asn199=, XM_005263195.1:c.597T>C, NM_001318789.1:c.597T>C, rs17859054, rs17846060, NM_001318793.1:c.597T>C, NP_001305720.1:p.Asn199=, NP_001305724.1:p.Asn199=, XM_005263195.2:c.597T>C, NP_003255.2:p.Asn199=, XM_005263193.1:c.597T>C, XP_005263250.1:p.Asn199=, XM_005263197.1:c.597T>C, NM_001318790.1:c.597T>C, NP_001305722.1:p.Asn199=, NG_016229.1:g.24216T>C, XP_005263251.1:p.Asn199=, NC_000004.11:g.154624656T>C, XM_005263194.2:c.597T>C, XP_011530517.1:p.Asn199=, XP_005263252.1:p.Asn199=, XP_005263253.1:p.Asn199=, rs3804099, XP_005263254.1:p.Asn199=, rs57733625, NM_001318787.1:c.597T>C, XP_011530518.1:p.Asn199=, NM_001318796.1:c.597T>C, NC_000004.12:g.153703504= +PA166176322 rs3804100 PA36550 TLR2 NC_000004.12:153704257 4 1 0 0 0 3804100, NG_016229.1:g.24969T>C, NC_000004.11:g.154625409T>C, NC_000004.12:g.153704257T>C, NG_016229.1:g.24969=, NP_003255.2:p.Ser450=, NC_000004.12:g.153704257=, rs3804100, 58120958, NC_000004.11:g.154625409= +PA166157084 rs3804454 PA30621 MAPK14 NC_000006.12:36039221 1 0 0 0 0 3804454, NC_000006.11:g.36006998T>A, XR_926065.1:n.639+10948T>G, rs3804454, XR_926067.1:n.639+10948T>G, 59969248, XR_926068.1:n.639+10948T>G, NC_000006.11:g.36006998=, NM_139013.2:c.116+10948T>G, XR_241882.1:n.639+10948T>G, NC_000006.12:g.36039221T>C, XM_011514311.1:c.116+10948T>G, rs59969248, NC_000006.12:g.36039221T>G, NM_139012.2:c.116+10948T>G, NC_000006.11:g.36006998T>G, NM_001315.2:c.116+10948T>G, XM_006714998.2:c.-116+10061T>G, NM_139014.2:c.116+10948T>G, XM_011514310.1:c.41+10722T>G, NC_000006.12:g.36039221=, NC_000006.12:g.36039221T>A, NC_000006.11:g.36006998T>C +PA166156382 rs3805111 PA395 ABCC5 NC_000003.12:183972201 1 0 0 0 0 NC_000003.11:g.183689989=, NC_000003.12:g.183972201G>C, XM_011512315.1:c.1405-282C>T, NG_047115.1:g.50810C>T, XM_005247059.1:c.1405-282C>T, rs3805111, 3805111, XM_005247059.3:c.1405-282C>T, XM_005247062.1:c.-127-167C>T, NG_047115.1:g.50810C>G, XM_005247060.1:c.1405-282C>T, XM_011512314.1:c.1405-282C>T, XM_011512316.1:c.-127-167C>T, NG_047115.1:g.50810=, NM_005688.3:c.1405-282C>T, XM_005247061.1:c.1405-282C>T, NM_001320032.1:c.-127-167C>T, rs60829156, NC_000003.11:g.183689989G>C, NC_000003.11:g.183689989G>A, NC_000003.12:g.183972201=, XM_005247058.1:c.1405-282C>T, XM_005247058.3:c.1405-282C>T, 60829156, NC_000003.12:g.183972201G>A +PA166179061 rs380518 PA34892 RXRG NC_000001.11:165403498 1 0 0 0 0 NC_000001.11:g.165403498C>T, NG_029517.2:g.46858=, 380518, 58485554, NC_000001.10:g.165372735C>T, 3767334, NC_000001.11:g.165403498=, NG_029517.1:g.46858=, rs380518, NG_029517.1:g.46858G>A, NG_029517.2:g.46858G>A, NC_000001.10:g.165372735= +PA166156818 rs3805500 PA142671060 DROSHA NC_000005.10:31462870 1 0 0 0 0 rs3805500, 3805500, XM_005248292.1:c.2550+1366C>T, NM_001100412.1:c.2463+1366C>T, 386586733, NC_000005.10:g.31462870=, NG_051574.1:g.74306=, XM_005248294.2:c.2370+1366C>T, XM_005248293.2:c.2481+1366C>T, NG_051574.1:g.74306C>T, XM_005248292.2:c.2550+1366C>T, XM_005248291.1:c.2574+1366C>T, NC_000005.9:g.31462977=, NC_000005.9:g.31462977G>A, XM_005248293.1:c.2481+1366C>T, NC_000005.10:g.31462870G>A, NM_013235.4:c.2574+1366C>T, XM_011514033.1:c.2574+1366C>T, XM_005248291.2:c.2574+1366C>T, XM_005248294.1:c.2370+1366C>T, rs386586733 +PA166169851 rs3805715 PA25921 C6 NC_000005.10:41158387 1 0 0 0 0 NG_011582.1:g.108052=, NC_000005.10:g.41158387=, 386586744, NG_011582.1:g.108052T>C, NC_000005.9:g.41158489=, NC_000005.9:g.41158489A>G, rs3805715, 3805715, 59499781, NC_000005.10:g.41158387A>G +PA166169852 rs3805716 PA25921 C6 NC_000005.10:41161387 1 0 0 0 0 111193026, NC_000005.10:g.41161387A>T, NC_000005.10:g.41161387=, 56584188, NC_000005.9:g.41161489A>T, 61718271, NC_000005.10:g.41161387A>G, NC_000005.9:g.41161489=, NG_011582.1:g.105052=, NG_011582.1:g.105052T>A, 3805716, NC_000005.9:g.41161489A>G, NG_011582.1:g.105052T>C, rs3805716 +PA166157085 rs3805787 PA28685 GJA1 NC_000006.12:121437761 1 0 0 0 0 rs3805787, rs57701531, NC_000006.11:g.121758907=, 3805787, NC_000006.11:g.121758907A>G, rs56646584, NC_000006.12:g.121437761=, 56646584, NM_000165.4:c.-17+1929A>G, NC_000006.12:g.121437761A>G, 57701531, NG_008308.1:g.7163=, NG_008308.1:g.7163A>G +PA166178422 rs3805945 PA134897835 CUL7 NC_000006.12:43039244 1 1 0 0 0 117192059, NC_000006.12:g.43039244T>C, NC_000006.12:g.43039244=, rs3805945, NC_000006.11:g.43006982=, NG_016205.1:g.19702=, 56426872, 3805945, NC_000006.11:g.43006982T>C, NG_016205.1:g.19702A>G +PA166155712 rs3806596 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233729061 4 2 0 0 0 NC_000002.11:g.234637707T>C, NM_021027.2:c.856-37973T>C, NC_000002.12:g.233729061T>C, NM_019093.2:c.-66T>C, NM_001072.3:c.861+35196T>C, rs56448245, XR_241241.1:n.942-37973T>C, NM_019075.2:c.856-37973T>C, NM_019076.4:c.856-37973T>C, rs57616406, XR_241238.1:n.923+9374T>C, rs17864456, XR_241240.1:n.1022+35196T>C, 57616406, NC_000002.12:g.233729061=, NM_007120.2:c.867+9374T>C, rs3806596, 3806596, NM_019077.2:c.856-37973T>C, NM_019078.1:c.867+15203T>C, NC_000002.11:g.234637707=, NM_205862.1:c.60+35196T>C, 17864456, NG_002601.2:g.144318=, NG_002601.2:g.144318T>C, 56448245 +PA166155714 rs3806598 PA37174,PA37183,PA419 UGT1A10,UGT1A8,UGT1A9 NC_000002.12:233671246 3 1 0 0 0 rs3806598, 3806598, NM_021027.2:c.-689A>C, NG_002601.2:g.86503A>C, NC_000002.12:g.233671246=, NG_002601.2:g.86503=, rs60304063, NC_000002.11:g.234579892=, NM_019076.4:c.855+52684A>C, XR_241241.1:n.-603A>C, NC_000002.12:g.233671246A>C, NM_019075.2:c.855+33869A>C, NC_000002.11:g.234579892A>C, 60304063 +PA166295461 rs3806915 PA35660 SEMA6A NC_000005.10:116576220 2 0 0 0 0 NC_000005.9:g.115911916=, NC_000005.10:g.116576220C>A, 117997010, 3806915, rs3806915, NC_000005.10:g.116576220=, NC_000005.9:g.115911916C>A +PA166325341 rs3807348 PA30762,PA164722665 MEST,MIR335 NC_000007.14:130496266 1 0 0 0 0 3807348, 74303298, rs3807348, NG_009226.1:g.15062=, NC_000007.13:g.130136107G>A, NG_009226.1:g.15062G>C, NC_000007.14:g.130496266G>A, NC_000007.13:g.130136107G>C, NG_009226.1:g.15062G>A, NC_000007.14:g.130496266G>C, NC_000007.14:g.130496266=, NC_000007.13:g.130136107= +PA166322143 rs3807372 PA212 KCNH2 NC_000007.14:150971969 1 0 0 0 0 NC_000007.14:g.150971969G>T, NG_008916.1:g.10958=, NC_000007.14:g.150971969=, NC_000007.13:g.150669057G>A, 3807372, NC_000007.13:g.150669057=, rs3807372, NG_008916.1:g.10958C>T, 61055050, NC_000007.13:g.150669057G>T, NC_000007.14:g.150971969G>A, NG_008916.1:g.10958C>A +PA166157381 rs3807375 PA212 KCNH2 NC_000007.14:150970122 2 0 0 0 0 NC_000007.13:g.150667210=, NG_008916.1:g.12805G>C, NG_008916.1:g.12805G>A, NC_000007.14:g.150970122C>G, NC_000007.13:g.150667210C>T, 56750278, NC_000007.14:g.150970122=, XM_011516186.1:c.307+4589G>A, NM_000238.3:c.307+4589G>A, NC_000007.14:g.150970122C>T, 3807375, rs3807375, NM_172056.2:c.307+4589G>A, NC_000007.13:g.150667210C>A, NG_008916.1:g.12805G>T, XM_011516185.1:c.7+4248G>A, NC_000007.13:g.150667210C>G, NC_000007.14:g.150970122C>A, rs56750278, NG_008916.1:g.12805= +PA166157382 rs3807598 PA165618182,PA29379 HOTTIP,HOXA13 NC_000007.14:27200863 1 0 0 0 0 NC_000007.13:g.27240482=, NG_008181.1:g.4244G>C, 3807598, NG_046623.1:g.2521=, NC_000007.14:g.27200863C>A, XM_011515344.1:c.-786G>C, rs3807598, 10332585, NC_000007.13:g.27240482C>G, NG_008181.1:g.4244G>T, rs10332585, rs17437587, 52814862, NG_008181.2:g.4244G>T, XR_242057.1:n.326C>G, NG_008181.2:g.4244=, NG_046623.1:g.2521C>A, NM_000522.4:c.-786G>C, rs52814862, NC_000007.13:g.27240482C>A, 17437587, NG_046623.1:g.2521C>G, NG_008181.2:g.4244G>C, NC_000007.14:g.27200863C>G, NG_008181.1:g.4244=, NC_000007.14:g.27200863=, NR_037843.3:n.342C>G +PA166252964 rs3808035 PA34323 RELN NC_000007.14:103513015 1 0 0 0 0 NG_011877.2:g.481502=, 57594885, rs3808035, NC_000007.14:g.103513015A>C, NC_000007.13:g.103153462A>C, NG_011877.2:g.481502T>G, 3808035, NC_000007.13:g.103153462=, NC_000007.14:g.103513015=, NG_011877.2:g.481502T>A, NC_000007.14:g.103513015A>T, 10345398, NC_000007.13:g.103153462A>T +PA166157595 rs3808607 PA132 CYP7A1 NC_000008.11:58500365 4 1 0 0 0 rs3808607, 61122308, NG_007969.1:g.4798C>T, NG_055430.1:g.2020G>T, NC_000008.11:g.58500365=, NC_000008.10:g.59412924G>A, NG_007969.1:g.4798=, NM_000780.3:c.-267C>A, NC_000008.10:g.59412924G>C, NC_000008.11:g.58500365G>T, rs57446082, NG_055430.1:g.2020=, 57446082, NC_000008.11:g.58500365G>C, NC_000008.10:g.59412924=, NG_007969.1:g.4798C>A, NC_000008.11:g.58500365G>A, NG_055430.1:g.2020G>C, NG_007969.1:g.4798C>G, XM_011517476.1:c.-23-244C>A, NG_055430.1:g.2020G>A, 3808607, NC_000008.10:g.59412924G>T, rs61122308 +PA166206241 rs3808627 PA31943 OPRK1 NC_000008.11:53252242 2 0 0 0 0 rs3808627, NC_000008.11:g.53252242C>G, 58512434, 3808627, NC_000008.11:g.53252242=, NC_000008.10:g.54164802C>G, NC_000008.10:g.54164802=, NC_000008.11:g.53252242C>T, NC_000008.10:g.54164802C>T +PA166185757 rs3809324 PA26715 COL2A1 NC_000012.12:48005245 1 0 0 0 0 NG_008072.1:g.4258=, NG_008072.1:g.4258C>A, rs3809324, NC_000012.12:g.48005245=, NC_000012.12:g.48005245G>T, 3809324, NC_000012.11:g.48399028G>T, NC_000012.11:g.48399028= +PA166169991 rs3810366 PA27848 ERCC2 NC_000019.10:45370684 1 0 0 0 0 NC_000019.9:g.45873942G>T, NC_000019.10:g.45370684G>C, NG_007067.2:g.4904=, NC_000019.9:g.45873942=, NG_007067.2:g.4904C>A, NG_007067.2:g.4904C>G, 17587357, 58794467, rs3810366, NC_000019.10:g.45370684=, 3810366, NC_000019.9:g.45873942G>C, NC_000019.10:g.45370684G>T +PA166157873 rs3810651 PA28504 GABRQ NC_000023.11:152652814 2 1 0 0 0 NM_018558.3:c.1432A=, NP_061028.3:p.Ile478Leu, NG_015965.2:g.19632A>T, NC_000023.10:g.151821277T>G, rs52810409, NC_000023.11:g.152652814=, NC_000023.10:g.151821277T>C, 52810409, NG_015965.2:g.19632A>G, NG_015965.2:g.19632A>C, NG_015965.2:g.19632=, NC_000023.10:g.151821277T>A, NW_003871103.3:g.86797A>T, NG_015965.2:g.19632A=, NP_061028.3:p.Ile478=, XR_938525.1:n.144-13020T>A, NC_000023.11:g.152652814A>T, NW_003871103.3:g.86797A=, NC_000023.11:g.152652814A>G, XR_938526.1:n.144-13020T>A, XR_938524.1:n.144-13020T>A, NP_061028.3:p.Ile478Phe, XR_938527.1:n.144-16827T>A, NC_000023.11:g.152652814A>C, XM_011531184.1:c.1158+1032A>T, NC_000023.10:g.151821277T=, 3810651, rs3810651, NP_061028.3:p.Ile478Val, NM_018558.3:c.1432A>T +PA166176939 rs3810818 PA134910806,PA134974883 CORO7,VASN NC_000016.10:4382028 1 1 0 0 0 NP_612449.2:p.Glu384=, 58415105, NC_000016.10:g.4382028A>C, NG_052966.1:g.39934=, rs3810818, 3810818, NG_052966.1:g.39934T>G, NC_000016.9:g.4432029A>T, NC_000016.9:g.4432029=, NP_612449.2:p.Glu384Val, NC_000016.10:g.4382028A>T, NG_052966.1:g.39934T>A, NC_000016.10:g.4382028=, NC_000016.9:g.4432029A>C, NP_612449.2:p.Glu384Ala +PA166154040 rs3810950 PA26448 CHAT NC_000010.11:49616573 2 1 0 0 0 NM_020549.4:c.358G>A, rs17775591, NM_020986.3:c.4G>A, NC_000010.11:g.49616573G>A, NP_065574.3:p.Ala120Thr, NM_001142929.1:c.4G>A, rs60084580, NG_011797.1:g.12479=, NM_020985.3:c.4G>A, NC_000010.10:g.50824619=, NP_066265.3:p.Ala2Thr, NP_066266.3:p.Ala2Thr, NP_066264.3:p.Ala2Thr, NC_000010.10:g.50824619G>A, 3810950, NM_001142933.1:c.112G>A, NP_001136401.1:p.Ala2Thr, NP_001136405.1:p.Ala38Thr, NM_001142934.1:c.4G>A, 17775591, rs3810950, NM_020984.3:c.4G>A, 60084580, NP_001136406.1:p.Ala2Thr, NC_000010.11:g.49616573=, NG_011797.1:g.12479G>A, NP_065574.3:p.Ala120= +PA166153753 rs3811381 PA26855 CR1 NC_000001.11:207616743 1 0 0 0 0 NC_000001.10:g.207790088=, NC_000001.11:g.207616743C>G, NC_000001.10:g.207790088C>G, NC_000001.11:g.207616743C>A, XP_011507507.1:p.Pro2282Arg, NG_007481.1:g.125616C>A, NC_000001.11:g.207616743=, XP_006711229.1:p.Pro2282Arg, NP_000642.3:p.Pro2277Arg, XP_005273121.1:p.Pro2149Arg, NP_000642.3:p.Pro2277His, NC_000001.10:g.207790088C>A, rs56791502, XM_005273064.1:c.6446C>G, 56791502, XM_011509205.1:c.6845C>G, NM_000573.3:c.5480C>G, rs3811381, 3811381, XM_006711166.2:c.6845C>G, NP_000564.2:p.Pro1827Arg, NG_007481.1:g.125616C>G, NP_000642.3:p.Pro2277=, NG_007481.1:g.125616=, NM_000651.4:c.6830C>G +PA166180908 rs3811715 PA134899667 WWTR1 NC_000003.12:149669894 1 0 0 0 0 3811715, rs3811715, NC_000003.12:g.149669894=, NC_000003.11:g.149387681G>A, 386586952, NC_000003.12:g.149669894G>A, NC_000003.11:g.149387681=, 58453895 +PA166165297 rs3812265 PA26675 CNOT4 NC_000007.14:135364052 1 0 0 0 0 NC_000007.13:g.135048804C>G, NC_000007.14:g.135364052C>G, NP_001177779.1:p.Val548Leu, 52827553, 17168407, NC_000007.14:g.135364052C>T, NC_000007.13:g.135048804C>T, NC_000007.13:g.135048804=, NP_001177779.1:p.Val548=, NC_000007.14:g.135364052=, 13243884, 3812265, NP_001177779.1:p.Val548Ile, rs3812265, 60627613 +PA166155715 rs3812718 PA301 SCN1A NC_000002.12:166053034 27 3 0 0 0 NG_011906.1:g.25606G>A, XM_011511604.1:c.603-91G>A, XM_011511598.1:c.603-91G>A, NM_001165964.1:c.603-91G>A, rs57229005, AB093548.1:c.603-91G>A, XM_011511602.1:c.603-91G>A, NC_000002.11:g.166909544=, NM_001165963.1:c.603-91G>A, XM_011511605.1:c.603-91G>A, XM_011511600.1:c.603-91G>A, XM_011511607.1:c.603-91G>A, rs3812718, XM_011511599.1:c.603-91G>A, XM_011511603.1:c.603-91G>A, NM_006920.4:c.603-91G>A, XR_922981.1:n.787-91G>A, NC_000002.11:g.166909544C>T, NC_000002.12:g.166053034=, NC_000002.12:g.166053034C>T, 3812718, XM_011511606.1:c.603-91G>A, NM_001202435.1:c.603-91G>A, XM_011511601.1:c.603-91G>A, NG_011906.1:g.25606=, 57229005 +PA166227721 rs3812863 PA26352 CDX2 NC_000013.11:27971131 1 0 0 0 0 NC_000013.11:g.27971131G>A, 57220813, NC_000013.10:g.28545268=, NC_000013.11:g.27971131G>C, NC_000013.10:g.28545268G>C, NC_000013.11:g.27971131=, 3812863, NC_000013.10:g.28545268G>A, rs3812863 +PA166163335 rs3813008 PA35902 SLC5A2 NC_000016.10:31486560 1 0 0 0 0 NC_000016.9:g.31497881G>A, NG_012892.1:g.8443G>C, 3813008, NC_000016.10:g.31486560=, rs3813008, NC_000016.10:g.31486560G>C, NG_012892.1:g.8443=, NC_000016.9:g.31497881=, NC_000016.9:g.31497881G>C, NG_012892.1:g.8443G>A, NC_000016.10:g.31486560G>A, 57803468 +PA166155216 rs3813034 PA312 SLC6A4 NC_000017.11:30197786 1 0 0 0 0 NC_000017.10:g.28524804A>C, NM_001045.5:c.*670T>G, NC_000017.10:g.28524804A>G, NC_000017.11:g.30197786=, NC_000017.11:g.30197786A>G, XM_005258025.1:c.*670T>G, NG_011747.2:g.43151=, NC_000017.11:g.30197786A>C, rs3813034, NC_000017.10:g.28524804=, NG_011747.2:g.43151T>C, NG_011747.2:g.43151T>G, NC_000017.10:g.28524804A>T, 3813034, NG_011747.2:g.43151T>A, NC_000017.11:g.30197786A>T +PA166154904 rs3813567 PA26496 CHRNB4 NC_000015.10:78642209 1 1 0 0 0 NC_000015.10:g.78642209G>C, NC_000015.10:g.78642209G>A, XM_011521192.1:c.-1770C>T, NC_000015.9:g.78934551G>A, 58174806, NC_000015.9:g.78934551G>C, NC_000015.10:g.78642209=, XM_011521186.1:c.47-6622C>T, XM_011521191.1:c.-1149C>T, NC_000015.10:g.78642209G>T, NC_000015.9:g.78934551=, rs3813567, 3813567, XM_011521187.1:c.47-6622C>T, NM_000750.3:c.-1076C>T, XM_011521188.1:c.-175-4805C>T, NC_000015.9:g.78934551G>T, NM_001256567.1:c.-1076C>T, rs58174806 +PA166153754 rs3813627 PA24886,PA142670714 APOA2,TOMM40L NC_000001.11:161225358 1 0 0 0 0 NC_000001.11:g.161225358G>T, 3813627, NC_000001.10:g.161195148=, XM_005245538.1:c.-1005G>T, NM_001286373.1:c.-914G>T, NM_001286374.1:c.-914G>T, NG_012043.1:g.3271=, rs3813627, XM_011510057.1:c.-793G>T, NC_000001.10:g.161195148G>T, NR_049819.1:n.-1828G>T, XM_006711572.1:c.-793G>T, NC_000001.11:g.161225358=, NG_012043.1:g.3271C>A, NM_001643.1:c.-1788C>A, XM_005245536.1:c.-814G>T, XM_005245537.1:c.-914G>T, NM_032174.5:c.-914G>T +PA166153755 rs3813628 PA142670714 TOMM40L NC_000001.11:161226376 1 0 0 0 0 NM_001286373.1:c.-114A>C, NG_012043.1:g.2253T>A, 3813628, NC_000001.11:g.161226376A>T, XM_005245536.1:c.-35-79A>C, NM_032174.5:c.-114A>C, XM_006711572.1:c.-14-100A>C, rs3813628, NR_049819.1:n.-810A>C, XM_005245538.1:c.-205A>C, NC_000001.10:g.161196166A>T, NC_000001.11:g.161226376A>C, XM_005245537.1:c.-114A>C, NC_000001.10:g.161196166=, NG_012043.1:g.2253=, XM_011510057.1:c.-14-100A>C, rs57851595, 57851595, NG_012043.1:g.2253T>G, NC_000001.10:g.161196166A>C, NM_001286374.1:c.-114A>C, NC_000001.11:g.161226376= +PA166154041 rs3813867 PA129 CYP2E1 NC_000010.11:133526101 15 2 1 0 0 57822387, NG_008383.1:g.3739G>A, XM_005252665.1:c.-752G>C, 3813867, rs3813867, NG_055447.1:g.2551G>A, NC_000010.10:g.135339605G>C, NC_000010.10:g.135339605G>A, NG_055447.1:g.2551G>C, NC_000010.10:g.135339605=, rs57822387, NC_000010.11:g.133526101=, NG_055447.1:g.2551=, NC_000010.11:g.133526101G>A, NC_000010.11:g.133526101G>C, NG_008383.1:g.3739=, NM_000773.3:c.-1295G>C, NG_008383.1:g.3739G>C +PA166157874 rs3813928 PA194 HTR2C NC_000023.11:114583809 6 1 0 0 0 56468477, NC_000023.10:g.113818282=, NC_000023.10:g.113818282G>A, NG_012082.2:g.4725G>A, NM_001256760.2:c.-1088G>A, rs58438880, NC_000023.11:g.114583809=, NM_000868.3:c.-997G>A, rs3813928, 3813928, NG_012082.2:g.4725=, rs56468477, NW_004070891.1:g.252611G>A, rs17260544, NC_000023.11:g.114583809G>A, NM_001256761.2:c.-997G>A, 58438880, 17260544 +PA166157875 rs3813929 PA194 HTR2C NC_000023.11:114584047 28 4 0 0 0 rs3813929, NC_000023.11:g.114584047=, NM_001256760.2:c.-850C>T, rs17326402, NC_000023.10:g.113818520C>T, NW_004070891.1:g.252849C>T, NG_012082.2:g.4963C>G, NC_000023.11:g.114584047C>T, NG_012082.2:g.4963=, NM_001256761.2:c.-759C>T, 3813929, NC_000023.10:g.113818520C>G, NM_000868.3:c.-759C>T, 17326402, NC_000023.10:g.113818520=, NG_012082.2:g.4963C>T, NC_000023.11:g.114584047C>G +PA166156383 rs3814055 PA378 NR1I2 NC_000003.12:119781188 18 4 0 0 0 60667929, NC_000003.11:g.119500035=, NC_000003.12:g.119781188=, NC_000003.11:g.119500035C>T, NG_011856.1:g.5705C>T, XM_005247866.1:c.-1300C>T, 3814055, rs60667929, NC_000003.12:g.119781188C>T, NM_033013.2:c.-1135C>T, NM_003889.3:c.-1135C>T, rs3814055, NM_022002.2:c.-1570C>T, NG_011856.1:g.5705= +PA166156384 rs3814057 PA378 NR1I2 NC_000003.12:119818407 5 0 0 0 0 NC_000003.12:g.119818407A>T, NG_011856.1:g.42924=, NC_000003.11:g.119537254=, NM_022002.2:c.*1195A>C, NG_011856.1:g.42924A>T, NC_000003.11:g.119537254A>C, rs3814057, NC_000003.12:g.119818407A>C, NM_003889.3:c.*1195A>C, NM_033013.2:c.*1195A>C, 3814057, XM_005247866.1:c.995+2576A>C, NG_011856.1:g.42924A>C, NC_000003.12:g.119818407=, NC_000003.11:g.119537254A>T +PA166156385 rs3814058 PA378 NR1I2 NC_000003.12:119818444 6 2 0 0 0 NM_003889.3:c.*1232T>C, NM_033013.2:c.*1232T>C, XM_005247866.1:c.995+2613T>C, NG_011856.1:g.42961T>C, 60918337, NC_000003.12:g.119818444=, rs3814058, NC_000003.12:g.119818444T>C, 3814058, NM_022002.2:c.*1232T>C, NC_000003.11:g.119537291=, NG_011856.1:g.42961=, NC_000003.11:g.119537291T>C, rs60918337 +PA166154042 rs3814637 PA124 CYP2C19 NC_000010.11:94761288 6 2 0 0 0 NG_008384.3:g.3608C>T, NG_008384.3:g.3608=, NC_000010.10:g.96521045C>T, NC_000010.10:g.96521045=, NC_000010.11:g.94761288=, NG_008384.3:g.3608C>G, 11565103, rs17878465, NG_055436.1:g.648C>A, NC_000010.11:g.94761288C>T, 17878465, 117910415, NG_055436.1:g.648=, NC_000010.11:g.94761288C>G, rs3814637, 3814637, NG_055436.1:g.648C>G, NC_000010.10:g.96521045C>A, NC_000010.10:g.96521045C>G, NC_000010.11:g.94761288C>A, rs58858251, NG_008384.3:g.3608C>A, 58858251, NG_055436.1:g.648C>T, rs117910415, NG_008384.2:g.3583C>T, rs11565103, NM_000769.2:c.-1418C>T +PA166159103 rs3814995 PA38693,PA31709 KIRREL2,NPHS1 NC_000019.10:35851310 2 1 0 0 0 NC_000019.9:g.36342212=, NP_004637.1:p.Glu117=, NP_004637.1:p.Glu117Ter, NC_000019.10:g.35851310C>A, NG_051206.1:g.4676C>A, NC_000019.10:g.35851310C>G, NP_004637.1:p.Glu117Lys, NC_000019.9:g.36342212C>G, NG_051206.1:g.4676C>G, NG_013356.2:g.22978G>T, 117703631, NC_000019.10:g.35851310C>T, NC_000019.10:g.35851310=, rs3814995, 3814995, NG_013356.2:g.22978=, NG_013356.2:g.22978G>C, NC_000019.9:g.36342212C>T, NG_051206.1:g.4676C>T, NG_013356.2:g.22978G>A, NP_004637.1:p.Glu117Gln, NC_000019.9:g.36342212C>A, NG_051206.1:g.4676= +PA166157086 rs3815087 PA33919 PSORS1C1 NC_000006.12:31125810 3 1 0 0 0 57847399, rs118170884, NC_000006.12:g.31125810=, NT_167245.2:g.2385172A>G, 118170884, NC_000006.11:g.31093587G>A, NT_113891.3:g.2608188G>A, NT_167247.2:g.2469925G=, NM_014068.2:c.-94G>A, 52794797, NT_167246.2:g.2436322G>A, NT_167247.2:g.2469925G>A, NT_167248.1:g.2389410A=, NT_167245.1:g.2390757A=, NC_000006.12:g.31125810G>A, 140268645, NM_014068.2:c.-94G=, 112569884, 116367638, NT_167248.1:g.2389410A>G, NT_167248.2:g.2383814A>G, NT_167245.1:g.2390757A>G, NC_000006.11:g.31093587=, XM_011547845.1:c.-94G=, 6924947, rs3815087, XM_011547845.1:c.-94G>A, NG_021348.1:g.15980=, NG_021348.1:g.15980G>A, rs57847399, NT_167247.1:g.2475510G>A, NT_167248.2:g.2383814A=, rs9263698, 9263698, NT_167246.1:g.2441942G>A, XM_011547844.1:c.15-3771A>G, XM_011547844.1:c.15-3771G>A, NT_167246.2:g.2436322G=, rs112569884, NC_000006.12:g.31125810G=, NT_113891.3:g.2608188G=, NC_000006.11:g.31093587G=, rs116367638, rs140268645, NT_113891.2:g.2608294G=, NT_113891.2:g.2608294G>A, NT_167247.1:g.2475510G=, NG_021348.1:g.15980G=, rs6924947, NT_167246.1:g.2441942G=, NT_167245.2:g.2385172A=, 3815087, rs52794797 +PA166160018 rs3815455 PA33532 POR NC_000007.14:75982438 1 0 0 0 0 NC_000007.14:g.75982438C>G, NC_000007.13:g.75611756C>G, NC_000007.14:g.75982438=, rs3815455, 3815455, NC_000007.14:g.75982438C>T, NG_008930.1:g.72337C>T, NG_008930.1:g.72337=, NG_008930.1:g.72337C>G, NC_000007.13:g.75611756C>T, NC_000007.13:g.75611756= +PA166157384 rs3815459 PA212 KCNH2 NC_000007.14:150947306 2 0 0 0 0 NG_008916.1:g.35621G>A, NC_000007.13:g.150644394C>A, NG_008916.1:g.35621G>C, NG_008916.1:g.35621=, XM_011516186.1:c.*254G>A, NC_000007.14:g.150947306C>A, NC_000007.14:g.150947306C>T, NM_000238.3:c.3152+22G>A, 57598209, NC_000007.14:g.150947306=, XM_011516185.1:c.2852+22G>A, NC_000007.13:g.150644394C>G, NC_000007.13:g.150644394C>T, NM_172057.2:c.2132+22G>A, NG_008916.1:g.35621G>T, rs3815459, 3815459, NC_000007.14:g.150947306C>G, NC_000007.13:g.150644394=, rs57598209 +PA166155058 rs3815583 PA107 CES1 NC_000016.10:55833130 3 0 0 0 0 118051681, NM_001025194.1:c.-75T>G, XM_005276867.1:c.-75G=, NC_000016.9:g.55867042A>C, XM_005276867.1:c.-75G>T, NC_000016.10:g.55833130=, XM_011546995.1:c.-75G=, rs118051681, XM_005255774.1:c.-75T=, NC_000016.9:g.55867042=, XM_005255774.1:c.-75T>G, NG_012057.1:g.5034T=, NG_012057.1:g.5034T>G, NM_001025194.1:c.-75T=, NW_003315945.1:g.57035C=, NM_001266.4:c.-75T=, XM_011522816.1:c.-75T=, NC_000016.10:g.55833130A>C, rs11076115, NM_001266.4:c.-75T>G, NC_000016.10:g.55833130A=, XM_011522816.1:c.-75T>G, NM_001025195.1:c.-75T>G, XM_011546995.1:c.-75G>T, NG_012057.1:g.5034=, NW_003315945.1:g.57035C>A, NC_000016.9:g.55867042A=, 11076115, NM_001025195.1:c.-75T=, rs3815583, 3815583 +PA166160393 rs3816877 PA24878 APEH NC_000003.12:49682366 1 0 0 0 0 NG_011438.1:g.13365=, NG_011438.1:g.13365C>T, NC_000003.12:g.49682366C>T, NP_001631.3:p.Thr541Met, NC_000003.11:g.49719799C>G, NP_001631.3:p.Thr541=, NG_016454.1:g.11398=, NC_000003.12:g.49682366C>G, rs3816877, NC_000003.12:g.49682366=, NC_000003.11:g.49719799=, 3816877, NG_011438.1:g.13365C>G, NG_016454.1:g.11398G>C, NP_001631.3:p.Thr541Arg, NG_016454.1:g.11398G>A, NC_000003.11:g.49719799C>T +PA166154403 rs3817657 PA298 RRM1 NC_000011.10:4121362 1 0 0 0 0 NG_027992.2:g.31669T>G, NG_027992.2:g.31669T>C, NM_001318065.1:c.-138-242T>C, NG_027992.2:g.31669T>A, XM_011520278.1:c.211-242T>C, NC_000011.10:g.4121362=, NC_000011.10:g.4121362T>C, 3817657, NC_000011.10:g.4121362T>A, rs3817657, NG_027992.2:g.31669=, NC_000011.9:g.4142592=, NC_000011.9:g.4142592T>C, XM_005253058.1:c.634-242T>C, NC_000011.9:g.4142592T>A, NM_001318064.1:c.586-242T>C, NC_000011.9:g.4142592T>G, NC_000011.10:g.4121362T>G, 57325561, XM_011520279.1:c.-138-242T>C, rs57325561, NM_001033.3:c.877-242T>C, XM_011520277.1:c.586-242T>C, XM_005253059.1:c.586-242T>C, NM_001033.4:c.877-242T>C +PA166153756 rs3818822 PA142672117 CHIA NC_000001.11:111314586 1 1 0 0 0 NM_001258001.1:c.-21G>A, NC_000001.11:g.111314586=, NC_000001.10:g.111857208=, NM_201653.3:c.304G>A, NP_970615.2:p.Gly102Arg, rs52810904, NM_001258003.1:c.-21G>A, NC_000001.10:g.111857208G>C, NM_001258004.1:c.-319G>A, NC_000001.10:g.111857208G>A, XM_006710577.2:c.-14G>A, NM_021797.3:c.-21G>A, rs60274821, 52810904, rs3818822, NP_970615.2:p.Gly102=, NM_001040623.2:c.-14G>A, 3818822, NM_001258002.1:c.-14G>A, NM_001258005.1:c.-153G>A, NC_000001.11:g.111314586G>C, 60274821, NC_000001.11:g.111314586G>A +PA166185322 rs3818929 PA142670900 SLC44A3 NC_000001.11:94892671 1 0 0 0 0 NC_000001.11:g.94892671G>A, NC_000001.10:g.95358227G>A, rs3818929, NC_000001.11:g.94892671=, NC_000001.10:g.95358227=, 3818929 +PA166252965 rs3819479 PA34323 RELN NC_000007.14:103756635 1 0 0 0 0 NC_000007.14:g.103756635=, NG_011877.2:g.237882A>T, NC_000007.13:g.103397082=, NC_000007.13:g.103397082T>A, NC_000007.13:g.103397082T>C, 56544492, NG_011877.2:g.237882A>G, rs3819479, NC_000007.14:g.103756635T>G, 3819479, NG_011877.2:g.237882A>C, NG_011877.2:g.237882=, NC_000007.13:g.103397082T>G, 60974284, NC_000007.14:g.103756635T>A, NC_000007.14:g.103756635T>C +PA166157087 rs3819811 PA33379 PLAGL1 NC_000006.12:143959392 1 0 0 0 0 XM_005267025.1:c.-5+1077T>C, XM_005267032.1:c.-5+1077T>C, NM_001317162.1:c.-325+1077T>C, XM_005267028.1:c.-5+1077T>C, NM_001317158.1:c.-5+1077T>C, NM_001080955.2:c.-5+1077T>C, XM_005267030.1:c.-5+1077T>C, XM_005267027.1:c.-5+1077T>C, NM_001317160.1:c.-5+1077T>C, NM_006718.4:c.-325+1077T>C, NM_001317157.1:c.-325+1077T>C, NC_000006.12:g.143959392=, NC_000006.11:g.144280529A>G, NM_001289043.1:c.-325+1077T>C, NM_002656.3:c.-5+1077T>C, NG_009384.2:g.110207=, XM_005267031.1:c.-5+1077T>C, XM_005267021.1:c.-325+1077T>C, XM_005267026.1:c.-5+5395T>C, NM_001289048.1:c.-325+1077T>C, NM_001289047.1:c.-325+9515T>C, NM_001317159.1:c.-325+1077T>C, XM_005267029.1:c.-5+1077T>C, NM_001080952.2:c.-325+1077T>C, NM_001289039.1:c.-5+5395T>C, NG_009384.2:g.110207T>C, NG_009384.1:g.110207T>C, XM_005267022.1:c.-325+1077T>C, rs3819811, 3819811, NM_001289045.1:c.-325+1077T>C, NM_001289046.1:c.-325+1077T>C, NM_001080953.2:c.-325+1077T>C, XM_005267024.1:c.-5+1077T>C, NM_001289038.1:c.-5+1077T>C, NC_000006.11:g.144280529=, NC_000006.12:g.143959392A>G, NM_001289049.1:c.-325+1077T>C, NM_001289044.1:c.-325+1077T>C, NM_001317156.1:c.-325+1077T>C, XM_005267034.1:c.-5+5395T>C, NM_001289041.1:c.-5+1077T>C, XM_005267033.1:c.-5+5395T>C, XM_005267020.1:c.-325+1077T>C, NM_001080954.2:c.-325+1077T>C, NM_001289037.1:c.-5+1077T>C, NG_009384.1:g.110207=, NM_001080956.2:c.-5+1077T>C, NM_001289042.1:c.-325+5395T>C, NM_001317161.1:c.-325+1077T>C, XM_005267023.1:c.-5+1077T>C, NM_001289040.1:c.-5+1077T>C, NM_001080951.2:c.-325+1077T>C +PA166155717 rs3821353 PA25094 ATIC NC_000002.12:215333056 2 0 0 0 0 NG_013002.1:g.26101G>T, NM_004044.6:c.815-294G>T, NC_000002.12:g.215333056G>T, NC_000002.11:g.216197779=, rs3821353, 3821353, NC_000002.11:g.216197779G>T, NC_000002.12:g.215333056=, NG_013002.1:g.26101= +PA166156386 rs3821799 PA134933118 ADIPOQ NC_000003.12:186853697 2 0 0 0 0 NR_046662.1:n.2086+81A>G, 57312489, NG_021140.1:g.16024T>C, rs56544256, NC_000003.12:g.186853697=, 56544256, NC_000003.11:g.186571486=, rs17300854, NC_000003.11:g.186571486T>C, rs3821799, 3821799, 17300854, NM_004797.3:c.214+425T>C, XM_011513324.1:c.214+425T>C, rs57312489, NG_021140.1:g.16024=, NC_000003.12:g.186853697T>C, NM_001177800.1:c.214+425T>C +PA166183703 rs3823010 PA31945 OPRM1 NC_000006.12:154058017 4 3 0 0 0 NG_021208.2:g.52517=, 57094895, NC_000006.11:g.154379152=, NC_000006.12:g.154058017=, NG_021208.2:g.52517G>A, NC_000006.12:g.154058017G>A, NC_000006.11:g.154379152G>A, 3823010, 17209310, rs3823010 +PA166157088 rs3823036 PA33537,PA33539 POU2F2,POU3F2 NC_000006.12:98836656 1 0 0 0 0 NC_000006.11:g.99284532T>C, NC_000006.12:g.98836656T>C, rs57778231, 3823036, NC_000006.12:g.98836656=, NC_000006.11:g.99284532=, rs3823036, 57778231, NM_005604.3:c.*451T>C +PA166163355 rs3824519 PA31818 NTRK2 NC_000009.12:84955089 1 0 0 0 0 3824519, NC_000009.12:g.84955089=, NG_012201.2:g.291539=, NG_012201.2:g.291539C>T, NC_000009.12:g.84955089C>T, rs3824519, 59984745, NC_000009.11:g.87570004=, NC_000009.11:g.87570004C>T +PA166154043 rs3824662 PA28586 GATA3 NC_000010.11:8062245 5 2 0 0 0 NG_015859.1:g.12542C>A, XM_005252442.2:c.779-1748C>A, NC_000010.11:g.8062245C>A, NC_000010.10:g.8104208C>T, NM_002051.2:c.779-1751C>A, rs11567915, 11567915, NC_000010.11:g.8062245=, rs3824662, XM_005252443.3:c.779-1748C>A, 3824662, NC_000010.11:g.8062245C>G, XM_005252442.1:c.779-1748C>A, NG_015859.1:g.12542C>G, XM_005252443.1:c.779-1748C>A, NC_000010.10:g.8104208C>G, NC_000010.11:g.8062245C>T, NG_015859.1:g.12542C>T, NG_015859.1:g.12542=, NM_001002295.1:c.779-1748C>A, NC_000010.10:g.8104208=, NC_000010.10:g.8104208C>A +PA166154404 rs3825016 PA38478 SLC22A12 NC_000011.10:64591814 1 0 0 0 0 NM_001276326.1:c.258C>T, XM_006718431.2:c.153C>T, XP_005273803.1:p.His86=, XP_005273798.1:p.His86=, rs61073374, 17854801, XM_005273741.1:c.258C>T, XM_005273745.1:c.258C>T, XM_005273740.1:c.258C>T, XP_005273800.1:p.His86=, NM_001276327.1:c.258C>T, NC_000011.9:g.64359286C>T, NC_000011.10:g.64591814=, XP_005273799.1:p.His86=, NG_008110.1:g.6005=, XM_005273744.1:c.258C>T, XM_005273746.1:c.258C>T, NC_000011.9:g.64359286=, XP_006718494.1:p.His51=, XP_005273801.1:p.His86=, XM_005273747.1:c.-1752C>T, 61073374, XM_005273743.1:c.258C>T, rs3825016, NM_144585.3:c.258C>T, 3825016, NP_001263255.1:p.His86=, XM_006718430.2:c.258C>T, NC_000011.10:g.64591814C>T, XP_005273802.1:p.His86=, XP_006718493.1:p.His86=, NP_653186.2:p.His86=, NG_008110.1:g.6005C>T, rs17854801, NP_001263256.1:p.His86=, XM_005273742.1:c.258C>T, XP_005273797.1:p.His86=, NM_153378.2:c.-251C>T +PA166251002 rs3825017 PA38478 SLC22A12 NC_000011.10:64591802 1 0 0 0 0 NC_000011.9:g.64359274=, NC_000011.9:g.64359274C>T, 3825017, NG_008110.1:g.5993=, NP_653186.2:p.Asn82=, rs3825017, 58240864, NG_008110.1:g.5993C>T, NC_000011.9:g.64359274C>A, NC_000011.10:g.64591802=, NP_653186.2:p.Asn82Lys, NC_000011.10:g.64591802C>A, NC_000011.10:g.64591802C>T, NG_008110.1:g.5993C>A +PA166177011 rs3825018 PA38478 SLC22A12 NC_000011.10:64591337 1 0 0 0 0 NG_008110.1:g.5528=, NC_000011.10:g.64591337=, 57708789, NG_008110.1:g.5528G>A, NC_000011.9:g.64358809=, rs3825018, 3825018, NC_000011.10:g.64591337G>A, NC_000011.9:g.64358809G>A +PA166182208 rs3825876 PA387 SLC28A1 NC_000015.10:84892637 1 1 0 0 0 NC_000015.10:g.84892637=, NC_000015.10:g.84892637G>A, 52803124, NC_000015.9:g.85435868G>A, rs3825876, 3825876, 58456554, NC_000015.9:g.85435868= +PA166160867 rs3826041 PA27092 CYP1A1 NC_000015.10:74726549 1 1 0 0 0 NC_000015.9:g.75018890A>C, NG_008431.2:g.9008=, NG_055242.1:g.2855A>G, NC_000015.9:g.75018890=, NG_008431.2:g.9008A>G, NG_055242.1:g.2855=, NG_061374.1:g.3980T>G, 3826041, rs3826041, NC_000015.9:g.75018890A>G, NG_055242.1:g.2855A>C, NG_008431.2:g.9008A>C, NG_061374.1:g.3980T>C, 17861101, NC_000015.10:g.74726549=, NC_000015.10:g.74726549A>C, NG_061374.1:g.3980=, NC_000015.10:g.74726549A>G +PA166155292 rs3826619 PA36601 TNFRSF11A NC_000018.10:62348517 1 0 0 0 0 rs60179579, NM_001278268.1:c.157+268G>A, NC_000018.10:g.62348517G>A, NM_001270951.1:c.157+268G>A, NG_008098.1:g.28203=, NG_008098.1:g.28203G>T, NM_001270949.1:c.157+268G>A, 3826619, rs3826619, NC_000018.9:g.60015750G>T, NC_000018.10:g.62348517=, XM_005266777.1:c.157+268G>A, XM_011526245.1:c.39+268G>A, 60179579, NM_003839.2:c.157+268G>A, XM_011526244.1:c.157+268G>A, NM_003839.3:c.157+268G>A, NM_001270950.1:c.157+268G>A, NC_000018.9:g.60015750=, NC_000018.10:g.62348517G>T, NC_000018.9:g.60015750G>A, NG_008098.1:g.28203G>A, XR_935263.1:n.172+268G>A +PA166155412 rs3826711 PA123 CYP2B6 NC_000019.10:41006919 3 1 1 0 0 XM_011526549.1:c.-75-18C>G, XP_006723113.1:p.Pro167Ala, 3826711, rs3826711, XP_011524848.1:p.Pro167Ala, NC_000019.10:g.41006919C>T, NG_007929.1:g.20621=, XM_006723050.2:c.499C>G, XM_011526547.1:c.499C>G, XP_005258627.1:p.Pro167Ala, XM_005258569.1:c.499C>G, NC_000019.10:g.41006919=, XM_005258569.3:c.499C>G, XM_005258571.1:c.364+2473C>G, NM_000767.4:c.499C>G, XP_005258626.1:p.Pro167Ala, 52819279, NG_007929.1:g.20621C>T, NC_000019.10:g.41006919C>G, XM_011526546.1:c.499C>G, XM_011526550.1:c.364+2473C>G, NC_000019.9:g.41512824C>G, XM_005258570.1:c.499C>G, XM_011526548.1:c.484+2473C>G, rs59858538, NG_007929.1:g.20621C>G, NP_000758.1:p.Pro167=, rs52819279, 59858538, NP_000758.1:p.Pro167Ser, NP_000758.1:p.Pro167Ala, NC_000019.9:g.41512824C>T, NC_000019.9:g.41512824=, XP_011524849.1:p.Pro167Ala +PA166185491 rs3827020 PA26490 CHRNA4 NC_000020.11:63349639 2 0 0 0 0 NG_011931.1:g.16705A>G, 3827020, NG_011931.1:g.16705=, NC_000020.11:g.63349639T>C, NC_000020.10:g.61980991T>C, NC_000020.10:g.61980991=, NC_000020.11:g.63349639=, rs3827020 +PA166165190 rs3827963 PA25784 RALGAPA2 NC_000020.11:20391100 1 0 0 0 0 NC_000020.11:g.20391100A>G, rs3827963, NC_000020.11:g.20391100=, NC_000020.10:g.20371744A>G, NC_000020.10:g.20371744=, 3827963, 56550858, 60224255, 57239467 +PA166179651 rs3828743 PA162384080,PA37050 DSE,TSPYL1 NC_000006.12:116279647 4 1 0 0 0 rs3828743, NC_000006.11:g.116600810=, 3828743, NC_000006.11:g.116600810G>A, NC_000006.12:g.116279647=, NG_033266.3:g.30496G>T, 61228315, NC_000006.12:g.116279647G>A, NG_033266.3:g.30496=, NG_016217.1:g.5471C>T, NG_033266.3:g.30496G>A, NG_016217.1:g.5471=, 117342167, NC_000006.11:g.116600810G>T, NC_000006.12:g.116279647G>T, NP_003300.1:p.Pro62=, NP_003300.1:p.Pro62Thr, NG_016217.1:g.5471C>A, NP_003300.1:p.Pro62Ser +PA166157089 rs3828913 PA30812 MICB NC_000006.12:31498018 1 1 0 0 0 XM_005274975.1:c.-27+3039C>A, rs117394537, XM_011547655.1:c.-27+1118C>A, 113943461, XM_005274863.1:c.-27+3023C>A, XM_011548053.1:c.-27+1118C>A, rs3828913, NC_000006.11:g.31465795=, NM_005931.4:c.-176C>A, NT_167248.2:g.2753918C>A, 117394537, XM_005275557.1:c.-176C>A, 3828913, XM_011548052.1:c.-27+3043C>A, XM_005275250.1:c.-27+3024C>A, XM_011547252.1:c.-27+1118C>A, XM_005272818.1:c.-27+3024C>A, NT_113891.3:g.2975360C>A, XM_005249125.1:c.-27+3023C>A, XM_011547251.1:c.-27+3043C>A, XM_005275556.1:c.-27+3029C>A, NC_000006.12:g.31498018C>A, NG_021405.1:g.4941C>A, XM_011514630.1:c.-27+3042C>A, rs113943461, XM_011546312.1:c.-27+3042C>A, NT_167244.1:g.2780502C>A, NC_000006.11:g.31465795C>A, NT_167244.2:g.2830586C>A, XM_005274864.1:c.-176C>A, NT_167247.2:g.2839974C>A, 59761184, NG_021405.1:g.4941=, XM_006726002.2:c.-27+1118C>A, NC_000006.12:g.31498018=, XM_006726095.2:c.-27+1118C>A, rs59761184, NT_167245.2:g.2745626C>A, XM_005275409.1:c.-176C>A, XM_011547656.1:c.-27+3039C>A, NT_167249.2:g.2797313C>A, XM_011546313.1:c.-27+1118C>A, XM_005274976.1:c.-176C>A, XM_011514631.1:c.-27+1118C>A, XM_005249126.1:c.-176C>A, XM_005275408.1:c.-27+3030C>A, XM_005275251.1:c.-174C>A, NM_001289160.1:c.-27+3023C>A, XM_005272819.1:c.-174C>A, NM_001289161.1:c.-176C>A +PA166260301 rs3829125 PA24680 AKR1C4 NC_000010.11:5205821 1 1 0 0 0 3829125, NC_000010.10:g.5247784=, NC_000010.10:g.5247784C>A, NP_001809.4:p.Ser145Tyr, NG_031872.1:g.13987=, NC_000010.10:g.5247784C>G, NP_001809.4:p.Ser145=, NC_000010.11:g.5205821C>G, NC_000010.11:g.5205821=, rs3829125, NC_000010.11:g.5205821C>A, NP_001809.4:p.Ser145Cys, NG_031872.1:g.13987C>G, NG_031872.1:g.13987C>A +PA166154567 rs3829306 PA134865839 SLCO1B1 NC_000012.12:21139346 1 0 0 0 0 NM_006446.4:c.-61-2168C>T, NC_000012.12:g.21139346=, rs3829306, 3829306, NG_011745.1:g.13153=, NG_011745.1:g.13153C>T, NC_000012.11:g.21292280C>T, rs59551499, 52794315, NC_000012.12:g.21139346C>T, 59551499, rs52794315, NC_000012.11:g.21292280= +PA166155718 rs3832043 PA37174,PA37183,PA419 UGT1A10,UGT1A8,UGT1A9 NC_000002.12:233671808 19 4 0 0 0 NM_021027.2:c.-127delT, UGT1A9*22, 869178253, rs57111427, rs67695772, rs67695773, NM_019076.4:c.855+53246del, NC_000002.12:g.233671816_233671817del, NM_021027.2:c.-127del, NG_002601.2:g.87065delT, rs371526135, NC_000002.12:g.233671817dup, 57111427, 869291460, 371526135, 67695772, 67695773, NC_000002.11:g.234580454delT, NC_000002.12:g.233671817del, NM_019075.2:c.855+34431delT, NC_000002.11:g.234580463dup, 397840701, rs150487502, rs35426722, NM_019076.4:c.855+53246delT, NG_002601.2:g.87073_87074del, NG_002601.2:g.87065_87074=, XR_241241.1:n.-41delT, NG_002601.2:g.87074dup, NC_000002.12:g.233671808delT, 3832043, NG_002601.2:g.87074del, rs3832043, NM_019075.2:c.855+34431del, NC_000002.11:g.234580454_234580463=, NC_000002.11:g.234580462_234580463del, NC_000002.12:g.233671808_233671817=, 150487502, 35426722, NC_000002.11:g.234580463del +PA166322881 rs3832526 PA25052 ASNS NC_000007.14:97872311_97872327 1 0 0 0 0 NC_000007.14:g.97872314GCGGGGCGCAGGGC[3], NC_000007.13:g.97501639_97501640insGCAGGGCGCGGGGCGCAGGGC, NG_033870.2:g.61239_61252dup, NC_000007.13:g.97501639_97501640insGCGGGGCGCGGGGCGCAGGGC, NC_000007.14:g.97872314GCGGGGCGCAGGGC[7], NC_000007.13:g.97501623_97501639GGCGCGGGGCGCAG[4]GGCACGGGGCGCAGGGCGCGGGGCGCAGGGC[1], 144115496, NC_000007.14:g.97872314GCGGGGCGCAGGGC[5], NC_000007.14:g.97872327_97872328insGCGGGGCGCGGGGCGCAGGGC, NG_033870.2:g.61239_61252del, NC_000007.13:g.97501626GCGGGGCGCAGGGC[3], NC_000007.14:g.97872327_97872328insGCAGGGCGCGGGGCGCAGGGC, NC_000007.13:g.97501626GCGGGGCGCAGGGC[5], NC_000007.14:g.97872314_97872327del, NC_000007.13:g.97501626GCGGGGCGCAGGGC[7], NG_033870.2:g.61239CTGCGCCCCGCGCC[3], NG_033870.2:g.61239CTGCGCCCCGCGCC[7], NG_033870.2:g.61239CTGCGCCCCGCGCC[5], NC_000007.14:g.97872314GCGGGGCGCAGGGC[4], NG_033870.2:g.61252_61253insCTGCGCCCTGCGCCCCGCGCC, 3832526, rs3832526, NC_000007.14:g.97872314_97872327dup, NG_033870.2:g.61252_61253insCTGCGCCCCGTGCCCTGCGCCCCGCGCCCTGCGCCCCGCGCCCTGCGCCCCGCGCCCTGCGCCCCGCGCC, NC_000007.13:g.97501623_97501639=, NG_033870.2:g.61236_61252=, NC_000007.14:g.97872311_97872327=, NC_000007.14:g.97872314GCGGGGCGCAGGGC[8], NC_000007.14:g.97872314GCGGGGCGCAGGGC[6], NC_000007.13:g.97501626GCGGGGCGCAGGGC[4], NC_000007.13:g.97501626_97501639dup, NC_000007.14:g.97872311_97872327GGCGCGGGGCGCAG[4]GGCACGGGGCGCAGGGCGCGGGGCGCAGGGC[1], NC_000007.13:g.97501626GCGGGGCGCAGGGC[6], NC_000007.13:g.97501626GCGGGGCGCAGGGC[8], NG_033870.2:g.61252_61253insCCGCGCCCTGCGCCCCGCGCC, NG_033870.2:g.61239CTGCGCCCCGCGCC[4], NC_000007.13:g.97501626_97501639del, NG_033870.2:g.61239CTGCGCCCCGCGCC[8], NG_033870.2:g.61239CTGCGCCCCGCGCC[6] +PA166154568 rs3834935 PA35844 SLCO1B3 1 0 0 0 0 rs3834935, NM_019844.3:c.*347_*348insA, 3834935, NG_032071.1:g.110891_110892insA, XM_005253347.1:c.*347_*348insA, rs144914226, rs150101308, NC_000012.11:g.21069528_21069529insA, NC_000012.12:g.20916594_20916595insA, rs4149169, rs66461351 +PA166163600 rs3834939 PA328 SLCO1A2 NC_000012.12:21334839 1 1 0 0 0 370502336, NC_000012.11:g.21487770_21487772=, NC_000012.11:g.21487772dup, 58756444, NC_000012.12:g.21334836_21334838=, 143875573, 145484818, rs3834939, 58340159, 3834939, NC_000012.12:g.21334838dup +PA166255421 rs383510 PA36577 TMPRSS2 NC_000021.9:41486440 1 0 0 0 0 rs383510, NC_000021.9:g.41486440T>C, NC_000021.8:g.42858367=, NC_000021.9:g.41486440=, NG_047085.2:g.49677A>G, NG_055541.1:g.1273T>A, 383510, NC_000021.8:g.42858367T>C, NG_047085.2:g.49677=, NG_055541.1:g.1273T>C, NC_000021.8:g.42858367T>A, 59280064, NG_055541.1:g.1273=, NC_000021.9:g.41486440T>A, NG_047085.2:g.49677A>T +PA166156819 rs3836790 PA311 SLC6A3 NC_000005.10:1411741 4 1 0 0 0 NC_000005.9:g.1411855_1411856insCACATACCATGCAACATACACACTCAGACA, NC_000005.9:g.1411855_1411856insACATACACACTCAGACACACATACCATGCA, NG_015885.1:g.38688_38689insTGCATGGTATGTGTGTCTGAGTGTGTATGT, NG_015885.1:g.38688_38689=, NC_000005.9:g.1411855_1411856=, NC_000005.10:g.1411740_1411741insCACATACCATGCAACATACACACTCAGACA, NC_000005.10:g.1411740_1411741=, NM_001044.4:c.1157-386_1157-385insTGTCTGAGTGTGTATGTTGCATGGTATGTG, rs3836790, 3836790, NT_187547.1:g.102268_102269insTGTCTGAGTGTGTATGTTGCATGGTATGTG, NG_015885.1:g.38688_38689insTGTCTGAGTGTGTATGTTGCATGGTATGTG, NC_000005.10:g.1411740_1411741insACATACACACTCAGACACACATACCATGCA +PA166157239 rs3842 PA267 ABCB1 NC_000007.14:87504050 18 3 0 0 0 NC_000007.14:g.87504050=, rs60395104, NC_000007.14:g.87504050T>C, NG_011513.1:g.214199A>G, NM_000927.4:c.*193A>G, NG_011513.1:g.214199=, 60395104, rs3842, NC_000007.13:g.87133366T>C, 3747805, rs3747805, NC_000007.13:g.87133366=, 3842 +PA166156387 rs3842689 PA378 NR1I2 NC_000003.12:119782551_119782558 3 0 0 0 0 NG_011856.1:g.7070_7075del, NG_011856.1:g.7070_7075delGAGAAG, NM_003889.3:c.-23+253_-23+258delGAGAAG, NM_033013.2:c.-23+253_-23+258del, NM_003889.3:c.-23+253_-23+258del, NC_000003.11:g.119501398_119501405=, NM_022002.2:c.-205_-200del, NC_000003.11:g.119501400_119501405dup, NM_022002.2:c.-205_-200delGAGAAG, 58559376, NM_033013.2:c.-23+253_-23+258delGAGAAG, rs3842689, NC_000003.12:g.119782553_119782558dup, 143222197, NC_000003.12:g.119782551_119782558=, XM_005247866.1:c.-188+253_-188+258delGAGAAG, 3842689, NC_000003.11:g.119501400_119501405del, NC_000003.12:g.119782553_119782558delGAGAAG, NG_011856.1:g.7068_7075=, NG_011856.1:g.7070_7075dup, rs58559376, NC_000003.12:g.119782553_119782558del, NC_000003.11:g.119501400_119501405delGAGAAG +PA166209042 rs3842727 PA351 TH NC_000011.10:2163618 5 0 0 0 0 NG_007114.1:g.2577=, NG_008128.1:g.13188C>A, NC_000011.10:g.2163618=, NC_000011.9:g.2184848=, NG_050578.1:g.2592=, NG_050578.1:g.2592C>A, 3842727, NG_007114.1:g.2577C>A, NG_008128.1:g.13188=, rs3842727, NC_000011.10:g.2163618G>T, NC_000011.9:g.2184848G>T +PA166181801 rs3842761 PA162392175 INS-IGF2 NC_000011.10:2158122 1 0 0 0 0 NG_007114.1:g.8073C>T, NC_000011.9:g.2179352G>A, 74050138, NC_000011.10:g.2158122G>A, NG_050578.1:g.8088C>T, 17886139, NC_000011.10:g.2158122G>C, NG_050578.1:g.8088=, rs3842761, NC_000011.9:g.2179352G>C, 3842761, NC_000011.10:g.2158122=, NC_000011.9:g.2179352=, NG_007114.1:g.8073C>G, NG_050578.1:g.8088C>G, NG_007114.1:g.8073= +PA166157767 rs3842787 PA24346 PTGS1 NC_000009.12:122371228 6 0 0 0 0 XM_005252104.1:c.-248C>T, XM_005252105.1:c.-248C>T, NC_000009.11:g.125133507C>T, NM_001271166.1:c.-278C>T, XM_011518875.1:c.-248C>T, rs3842787, NP_542158.1:p.Pro17Leu, 3842787, NM_001271368.1:c.-248C>T, NM_080591.2:c.50C>T, NG_032900.1:g.5279C>T, NP_001258093.1:p.Pro17Leu, XM_011518876.1:c.-4110C>T, NP_000953.2:p.Pro17=, XM_005252105.2:c.-248C>T, NG_032900.1:g.5279=, XM_005252106.1:c.-278C>T, NC_000009.11:g.125133507=, NP_000953.2:p.Pro17Leu, NM_000962.2:c.50C>T, NC_000009.12:g.122371228=, NC_000009.12:g.122371228C>T, NM_000962.3:c.50C>T, NM_001271367.1:c.-249C>T, NM_001271164.1:c.50C>T +PA166153757 rs3845446 PA26009 CACNA1E NC_000001.11:181797301 2 1 0 0 0 386587547, NM_001205293.1:c.6399+443T>C, 60661707, NC_000001.11:g.181797301=, NG_050616.1:g.318991T>C, NG_050616.1:g.318991=, rs3845446, XM_005245477.1:c.6258+443T>C, NM_000721.3:c.6270+443T>C, NM_001205294.1:c.6213+443T>C, 3845446, NC_000001.10:g.181766437T>C, NC_000001.11:g.181797301T>C, XM_011509971.1:c.6342+443T>C, rs60661707, NC_000001.10:g.181766437=, rs386587547 +PA166180147 rs3845744 PA25084 ATF2 NC_000002.12:175078526 2 0 0 0 0 57005371, NG_047045.1:g.94681G>A, NC_000002.12:g.175078526C>T, NG_047045.1:g.94681G>C, NC_000002.11:g.175943254C>G, NG_047045.1:g.94681=, NC_000002.12:g.175078526C>A, NC_000002.11:g.175943254C>T, NC_000002.12:g.175078526C>G, rs3845744, 3845744, NC_000002.12:g.175078526=, NG_047045.1:g.94681G>T, NC_000002.11:g.175943254C>A, NC_000002.11:g.175943254= +PA166156820 rs3846662 PA189 HMGCR NC_000005.10:75355259 5 1 0 0 0 rs56538861, NC_000005.9:g.74651084A>G, NG_011449.1:g.23092=, rs17562582, NC_000005.10:g.75355259=, 3846662, rs3846662, NC_000005.10:g.75355259A>G, XM_011543358.1:c.1722+45A>G, 17562582, rs17238505, NC_000005.9:g.74651084A>T, rs59397732, NC_000005.10:g.75355259A>T, 386587624, 17238505, NC_000005.9:g.74651084=, NM_000859.2:c.1722+45A>G, 59397732, XM_005248492.1:c.1782+45A>G, NG_011449.1:g.23092A>G, XM_011543359.1:c.1624-106A>G, 56538861, NM_001130996.1:c.1564-106A>G, XM_011543357.1:c.1782+45A>G, rs386587624, NG_011449.1:g.23092A>T +PA166157768 rs3849942 PA134908144 C9orf72 NC_000009.12:27543283 1 1 0 0 0 386587846, NC_000009.11:g.27543281T>A, rs3849942, rs59076582, 3849942, NC_000009.11:g.27543281T>C, NC_000009.11:g.27543281=, NC_000009.12:g.27543283T>C, 59076582, NC_000009.12:g.27543283=, NC_000009.12:g.27543283T>A, rs386587846 +PA166179948 rs3852209 PA29286 HINT1 NC_000005.10:131160322 3 2 0 0 0 59510833, NC_000005.9:g.130496015C>T, 3852209, NC_000005.9:g.130496015=, rs3852209, 17621765, NC_000005.10:g.131160322=, NG_032998.1:g.10027G>A, NC_000005.10:g.131160322C>T, NG_032998.1:g.10027= +PA166156388 rs3856806 PA281 PPARG NC_000003.12:12434058 4 1 0 0 0 NC_000003.12:g.12434058C>T, rs3856806, NC_000003.11:g.12475557=, 3856806, NM_015869.4:c.1431C>T, NP_005028.4:p.His449=, XM_011533842.1:c.1270+16904C>T, NM_005037.5:c.1347C>T, NG_011749.1:g.151209=, NM_138711.3:c.1347C>T, NC_000003.11:g.12475557C>T, NP_619726.2:p.His449=, rs17241555, NP_056953.2:p.His477=, NP_619725.2:p.His449=, XM_011533843.1:c.*143C>T, XM_011533844.1:c.*143C>T, NM_138712.3:c.1347C>T, NG_011749.1:g.151209C>T, NC_000003.12:g.12434058=, XM_011533840.1:c.1347C>T, XP_011532142.1:p.His449=, XP_011532143.1:p.His449=, 56980657, rs56980657, 17241555, XM_011533841.1:c.1347C>T +PA166156822 rs3857384 PA162381084 CARTPT NC_000005.10:71718137 2 0 0 0 0 NC_000005.10:g.71718137=, 59626536, NG_015988.1:g.3975C>T, 36224097, NC_000005.9:g.71013964C>T, NC_000005.10:g.71718137C>T, rs59626536, NG_015988.1:g.3975=, rs3857384, NM_004291.3:c.-1157C>T, rs36224097, NC_000005.9:g.71013964=, 3857384 +PA166179565 rs3857532 PA164719488 EYS NC_000006.12:64523772 1 1 0 0 0 NG_023443.2:g.1188454C>G, NC_000006.12:g.64523772=, NC_000006.11:g.65233665G>C, NC_000006.11:g.65233665G>A, NC_000006.12:g.64523772G>A, NG_023443.2:g.1188454=, NC_000006.12:g.64523772G>C, NG_023443.2:g.1188454C>T, 56515753, 60967226, 3857532, NC_000006.11:g.65233665=, rs3857532 +PA166395001 rs386134230 PA109 CFTR NC_000007.14:117606674 0 0 0 0 1 NC_000007.14:g.117606674G>T, NG_016465.4:g.145891=, rs386134230, NC_000007.14:g.117606674G>A, NC_000007.13:g.117246728G>A, NG_016465.4:g.145891G>A, NC_000007.14:g.117606674=, NG_016465.4:g.145891G>T, 386134230, NP_000483.3:p.Gly970Asp, NP_000483.3:p.Gly970=, NP_000483.3:p.Gly970Val, NC_000007.13:g.117246728G>T, NC_000007.13:g.117246728= +PA166156823 rs3863145 PA311 SLC6A3 NC_000005.10:1392596 1 0 0 0 0 rs3863145, NC_000005.9:g.1392711G>A, NM_001044.4:c.*2139C>T, rs59145670, NC_000005.9:g.1392711=, 59145670, NG_015885.1:g.57833=, NC_000005.10:g.1392596=, NC_000005.10:g.1392596G>A, NT_187547.1:g.121413C>T, 3863145, NG_015885.1:g.57833C>T +PA166179950 rs3864283 PA29286 HINT1 NC_000005.10:131161735 1 0 0 0 0 3864283, NC_000005.10:g.131161735T>C, NG_032998.1:g.8614A>G, rs3864283, NC_000005.10:g.131161735=, NG_032998.1:g.8614=, NG_032998.1:g.8614A>T, NC_000005.10:g.131161735T>A, 57673497, NC_000005.9:g.130497428=, NC_000005.9:g.130497428T>C, NC_000005.9:g.130497428T>A +PA166195117 rs3865466 NC_000019.10:6509992 1 0 0 0 0 rs3865466, NC_000019.9:g.6510003A>G, 74255706, NC_000019.10:g.6509992=, 60786320, NC_000019.9:g.6510003=, 17703796, NC_000019.10:g.6509992A>G, 3865466 +PA166157090 rs3869066 PA165618433 ZNRD1-AS1 NC_000006.12:30035987 1 0 0 0 0 386588404, NT_167248.1:g.1296712A>G, rs117273490, rs3869066, NT_113891.3:g.1515722A>G, NT_167247.1:g.1385646A>G, 3869066, NR_026751.1:n.438-4T>C, NT_167246.1:g.1302357A>G, NT_167247.2:g.1380061A>G, 117273490, NT_167249.2:g.1334883A>G, NT_167245.2:g.1291873A>G, NT_167249.1:g.1334181A>G, rs386588404, NT_113891.2:g.1515828A>G, NT_167248.2:g.1291116A>G, NC_000006.11:g.30003764=, NC_000006.12:g.30035987=, NT_167244.2:g.1294047A>G, NT_167246.2:g.1296737A>G, NC_000006.11:g.30003764A>G, 116167601, rs116167601, NT_167245.1:g.1297458A>G, NC_000006.12:g.30035987A>G, NT_167244.1:g.1243963A>G +PA166159319 rs3873352 PA134876212 HCG22 NC_000006.12:31054336 1 1 0 0 0 rs3873352, 3873352, NC_000006.12:g.31054336C>G, NC_000006.11:g.31022113C>G, 112383671, NC_000006.11:g.31022113C>A, 3998434, 114442621, 3928944, NC_000006.12:g.31054336C>T, 17190148, 117613990, NC_000006.12:g.31054336=, NC_000006.11:g.31022113=, NC_000006.11:g.31022113C>T, 60140515, NC_000006.12:g.31054336C>A +PA166224421 rs387907272 PA31361 MYD88 NC_000003.12:38141150 0 0 0 0 2 NP_002459.3:p.Leu252Pro, 387907272, NC_000003.12:g.38141150=, NG_016964.1:g.7673T>C, NC_000003.11:g.38182641T>C, NG_016964.1:g.7673=, NG_023225.1:g.1093=, NC_000003.12:g.38141150T>C, NC_000003.11:g.38182641=, NG_023225.1:g.1093A>G, NP_002459.3:p.Leu252=, rs387907272 +PA166157769 rs3887137 PA24373 ABCA1 NC_000009.12:104936331 1 0 0 0 0 rs57670930, 57670930, NC_000009.11:g.107698612C>G, XR_930204.1:n.952-2421C>T, NC_000009.11:g.107698612=, NC_000009.11:g.107698612C>T, NC_000009.12:g.104936331=, rs3887137, NC_000009.12:g.104936331C>T, 3887137, NC_000009.12:g.104936331C>G +PA166203150 rs3887893 PA244 ABCC1 NC_000016.10:16111644 1 0 0 0 0 NC_000016.10:g.16111644T>G, NG_028268.1:g.167068T>G, NG_028268.2:g.167068T>C, NG_028268.2:g.167068=, NG_028268.2:g.167068T>G, NC_000016.9:g.16205501T>G, rs3887893, 3887893, NC_000016.9:g.16205501T>C, NC_000016.9:g.16205501=, NC_000016.10:g.16111644=, 58211987, NG_028268.1:g.167068=, 386588560, NC_000016.10:g.16111644T>C, NG_028268.1:g.167068T>C +PA166165398 rs3888190 PA25105 ATP2A1 NC_000016.10:28878165 1 1 0 0 0 NC_000016.9:g.28889486=, NC_000016.10:g.28878165=, NC_000016.10:g.28878165C>A, NC_000016.10:g.28878165C>T, NC_000016.9:g.28889486C>T, NG_023327.1:g.4678C>A, NC_000016.9:g.28889486C>A, NG_023327.1:g.4678=, NG_023327.1:g.4678C>T, rs3888190, 3888190 +PA166307781 rs3889348 PA134976472 SLC29A4 NC_000007.14:5298844 1 0 0 0 0 NC_000007.14:g.5298844=, NC_000007.13:g.5338475A>G, NC_000007.13:g.5338475A>C, 386588601, NC_000007.13:g.5338475=, 74302776, NC_000007.14:g.5298844A>G, 57232732, 3889348, rs3889348, NC_000007.14:g.5298844A>C +PA166177138 rs3889402 PA38265 MIEF2 NC_000017.11:18264083 1 1 0 0 0 NC_000017.11:g.18264083=, rs3889402, NC_000017.11:g.18264083G>T, NP_631901.2:p.Thr228=, NC_000017.10:g.18167397=, NC_000017.10:g.18167397G>A, 3889402, 57434965, NC_000017.11:g.18264083G>A, NC_000017.10:g.18167397G>T +PA166184563 rs3890011 PA27118 CYP4A11 NC_000001.11:46933071 2 1 0 0 0 NC_000001.11:g.46933071=, 3890011, NG_007932.1:g.13414=, 59068293, rs3890011, NG_007932.1:g.13414C>G, 17102834, 57643082, NC_000001.10:g.47398743=, NC_000001.11:g.46933071G>C, 7417785, NC_000001.10:g.47398743G>C +PA166156104 rs3892097 PA128 CYP2D6 NC_000022.11:42128945 488 77 76 0 0 CYP2D6(B), rs1800716, XM_005278354.1:c.207-2A>G, XM_005278354.1:c.207-2G>A, XM_011529972.1:c.506-1A>G, XM_011529972.1:c.506-1G>A, XM_011547751.1:c.290-1A>G, XM_011547751.1:c.290-1G>A, 28371711, 1800716, NW_004504305.1:g.51272T=, XM_011529971.1:c.363-2A>G, XM_011529971.1:c.363-2G>A, XM_011529967.1:c.506-1A>G, XM_011529967.1:c.506-1G>A, NW_004504305.1:g.51272T>C, XM_011529970.1:c.353-1G>A, XM_011529970.1:c.353-1A>G, XM_011547541.1:c.207-2A>G, XM_011547541.1:c.207-2G>A, NG_008376.4:g.6866G>A, NG_008376.3:g.6047G=, rs3892097, NW_009646208.1:g.14511C>T, XM_011529966.1:c.506-1A>G, XM_011529966.1:c.506-1G>A, XM_011547756.1:c.-1090C>T, XM_005278353.1:c.363-2A>G, XM_005278353.1:c.363-2G>A, NG_008376.3:g.6047G>A, XR_952745.1:n.1663-1A>G, XR_952745.1:n.1663-1G>A, NC_000022.10:g.42524947=, NT_187682.1:g.51286C>T, NM_001025161.2:c.353-1A>G, NM_001025161.2:c.353-1G>A, XR_430455.2:n.-926T>C, 60082401, NC_000022.11:g.42128945C>T, NW_009646208.1:g.14511C=, NM_000106.5:c.506-1A>G, NM_000106.5:c.506-1G>A, rs606231227, CYP2D6*4, XM_011548819.1:c.207-2A>G, XM_011548819.1:c.207-2G>A, NC_000022.11:g.42128945=, XM_011529969.1:c.363-2A>G, XM_011529969.1:c.363-2G>A, XM_011529968.1:c.506-1A>G, XM_011529968.1:c.506-1G>A, 606231227, XM_011547750.1:c.363-2A>G, XM_011547750.1:c.363-2G>A, NC_000022.11:g.42128945C=, NC_000022.10:g.42524947C=, NC_000022.10:g.42524947C>T, rs28371711, NG_008376.4:g.6866=, XM_011547756.1:c.-1090T>C, NG_008376.3:g.6047=, XM_005278354.3:c.207-2A>G, XM_005278354.3:c.207-2G>A, rs60082401, 3892097, XR_430455.2:n.-926C>T, NT_187682.1:g.51286C= +PA166155217 rs3892408 PA48 ALOX15 NC_000017.11:4638309 1 0 0 0 0 NC_000017.11:g.4638309C>T, NC_000017.10:g.4541604=, NM_001140.3:c.715G>A, XM_005256590.1:c.598G>A, NC_000017.11:g.4638309=, NC_000017.10:g.4541604C>T, XP_005256647.1:p.Val200Met, rs3892408, 3892408, NP_001131.3:p.Val239=, XP_005256646.1:p.Val261Met, XM_005256589.1:c.781G>A, NP_001131.3:p.Val239Met +PA166163305 rs3894049 PA31582 NFATC1 NC_000018.10:79524930 1 0 0 0 0 NC_000018.10:g.79524930=, NC_000018.10:g.79524930C>G, 17739949, NG_029226.1:g.134159C>G, NC_000018.10:g.79524930C>T, NC_000018.9:g.77284930=, NG_029226.1:g.134159=, NG_029226.1:g.134159C>T, rs3894049, 3894049, NC_000018.9:g.77284930C>G, NC_000018.9:g.77284930C>T +PA166157091 rs3909184 PA28175 FLOT1 NC_000006.12:30731607 1 0 0 0 0 NT_167248.2:g.1986721G>C, XM_005275503.1:c.580-508C>G, XM_006714947.2:c.565-507C>G, XM_005272760.3:c.580-508C>G, XM_006725465.2:c.565-508C>G, XM_005275503.3:c.580-508C>G, XM_005272760.1:c.580-508C>G, NM_001318875.1:c.580-507C>G, XM_005274910.1:c.580-508C>G, XM_005275336.1:c.580-507C>G, NT_167247.1:g.2081267G>C, NC_000006.11:g.30699384G>C, NC_000006.12:g.30731607G>C, rs115153408, XM_005274910.3:c.580-508C>G, 115153408, NC_000006.11:g.30699384=, XM_005275335.3:c.724-507C>G, XM_005274909.1:c.724-508C>G, NT_167245.2:g.1987458G>C, XM_005248781.1:c.580-507C>G, XM_005274909.3:c.724-508C>G, 118099270, NT_113891.3:g.2211346G>C, XM_005248781.3:c.580-507C>G, NT_167246.1:g.?C>G, XM_005248780.3:c.724-507C>G, NC_000006.12:g.30731607=, XM_005275335.1:c.724-507C>G, XM_005248780.1:c.724-507C>G, XM_005272759.1:c.724-508C>G, NT_167246.2:g.?C>G, XM_005272759.3:c.724-508C>G, XM_005275336.3:c.580-507C>G, XM_006726072.2:c.565-508C>G, XM_005275502.3:c.724-508C>G, NT_167249.2:g.2032394G>C, XM_005275502.1:c.724-508C>G, XM_006725971.2:c.565-507C>G, rs118099270, NM_005803.3:c.724-507C>G, rs3909184, NT_167247.2:g.2075682G>C, XM_006725672.2:c.565-508C>G, 3909184 +PA166155164 rs391300 PA37877 SRR NC_000017.11:2312964 1 0 0 0 0 rs386589066, rs58194095, XM_011523975.1:c.-4-2593T>C, NC_000017.10:g.2216258=, NM_001304803.1:c.-279-4906T>C, XM_005256752.1:c.-4-2593T>C, 391300, NM_021947.2:c.-4-2593T>C, XM_006721565.2:c.-4-2593T>C, NC_000017.11:g.2312964T>C, NC_000017.10:g.2216258T>C, XM_011523974.1:c.-4-2593T>C, XM_006721566.2:c.-4-2593T>C, 58194095, rs391300, NC_000017.11:g.2312964=, 386589066 +PA166156581 rs3913032 PA24933 AREG NC_000004.12:74471142 1 0 0 0 0 rs60356243, 60356243, NC_000004.11:g.75336859A>C, NC_000004.12:g.74471142=, NC_000004.12:g.74471142A>C, rs3913032, 3913032, NC_000004.11:g.75336859= +PA166154715 rs3916965 PA134924986 DAOA NC_000013.11:105451011 1 0 0 0 0 3916965, rs3916965, NC_000013.11:g.105451011C>T, NC_000013.10:g.106103360C>T, NC_000013.11:g.105451011=, NC_000013.10:g.106103360= +PA166153758 rs3917412 PA35640 SELE NC_000001.11:169731361 1 1 0 0 0 NG_012124.1:g.7719=, rs60581130, rs3917412, rs57050939, 3917412, NC_000001.11:g.169731361T>C, 57050939, NC_000001.11:g.169731361=, NC_000001.11:g.169731361T>A, NG_012124.1:g.7719A>T, rs56521004, NC_000001.11:g.169731361T>G, NC_000001.10:g.169700502=, NM_000450.2:c.529+474A>G, NC_000001.10:g.169700502T>G, 56521004, NC_000001.10:g.169700502T>C, NG_012124.1:g.7719A>C, 60581130, NC_000001.10:g.169700502T>A, NG_012124.1:g.7719A>G +PA166153759 rs3917643 PA158 F3 NC_000001.11:94536311 1 1 0 0 0 NG_029366.1:g.10547A>G, NC_000001.11:g.94536311T>C, rs386589262, NM_001178096.1:c.213-147A>G, rs3917643, 3917643, NC_000001.11:g.94536311=, NC_000001.10:g.95001867=, NG_029366.1:g.10547=, NC_000001.10:g.95001867T>C, 386589262, NM_001993.4:c.213-147A>G +PA166155944 rs3918242 PA30889 MMP9 NC_000020.11:46007337 4 0 0 0 0 NG_011468.1:g.3430C>T, NM_004994.2:c.-1590C>T, NC_000020.11:g.46007337=, NC_000020.10:g.44635976C>T, NC_000020.10:g.44635976=, NG_011468.1:g.3430=, NC_000020.11:g.46007337C>T, rs3918242, 3918242 +PA166159788 rs3918289 PA145 DPYD NC_000001.11:97450059 1 0 0 1 0 NC_000001.10:g.97915615G>A, NC_000001.10:g.97915615G>C, 386589336, 3918289, rs3918289, NP_000101.2:p.Asn635Lys, NG_008807.2:g.476001C>G, NC_000001.11:g.97450059G>A, NC_000001.11:g.97450059G>C, NC_000001.10:g.97915615=, NP_000101.2:p.Asn635=, NC_000001.11:g.97450059=, NG_008807.2:g.476001C>T, NG_008807.2:g.476001=, 199469547 +PA166153760 rs3918290 PA145 DPYD NC_000001.11:97450058 115 5 2 3 0 NC_000001.11:g.97450058C>T, NM_000110.3:c.1905+1G>A, NC_000001.10:g.97915614C>G, 386589337, NG_008807.2:g.476002G>C, IVS14+1 G>A, XM_005270561.1:c.1794+1G>A, NG_008807.2:g.476002G>A, NC_000001.10:g.97915614C>T, 3918290, NC_000001.10:g.97915614=, DPYD*2A, XM_005270562.3:c.1689+1G>A, rs3918290, NC_000001.11:g.97450058C>G, rs199469548, XM_005270563.1:c.1905+1G>A, NG_008807.2:g.476002=, NC_000001.11:g.97450058=, XM_005270562.1:c.1689+1G>A, XM_006710397.2:c.1905+1G>A, rs386589337, 199469548 +PA166154569 rs3918305 PA142670848 SVOP NC_000012.12:108937386 1 0 0 0 0 rs3918305, NM_018711.4:c.898-49G>A, rs59527033, 3918305, 59527033, NC_000012.11:g.109331162C>T, NC_000012.12:g.108937386C>T, NC_000012.12:g.108937386=, NC_000012.11:g.109331162= +PA166289241 rs3918396 PA24526 ADAM33 NC_000020.11:3671118 1 0 0 0 0 NC_000020.11:g.3671118=, NP_079496.1:p.Val710=, NC_000020.10:g.3651765C>T, NC_000020.11:g.3671118C>T, NP_079496.1:p.Val710Ile, rs3918396, 3918396, NC_000020.10:g.3651765= +PA166171046 rs3919583 NC_000005.10:87651774 1 1 0 0 0 NC_000005.10:g.87651774C>A, NC_000005.10:g.87651774=, 3919583, NC_000005.9:g.86947591C>A, rs3919583, NC_000005.9:g.86947591= +PA166157596 rs3924999 PA31776 NRG1 NC_000008.11:32595840 1 0 0 0 0 NM_013960.3:c.113G>A, 3199226, XP_011542814.1:p.Arg45Gln, 3924999, rs3924999, XM_011544512.1:c.134G>A, rs3199226, 17423515, 17845097, NP_001153467.1:p.Arg17Gln, rs17857884, NM_001159995.1:c.50G>A, NM_001160002.1:c.113G>A, NP_039254.1:p.Arg38=, NG_012005.1:g.961091G>A, NP_001153479.1:p.Arg38Gln, 60068866, 386589568, NM_013958.3:c.113G>A, NP_004486.2:p.Arg38Gln, NP_001153473.1:p.Arg17Gln, NM_001160005.1:c.113G>A, NP_001153474.1:p.Arg38Gln, NM_004495.3:c.113G>A, rs52817411, NP_001153477.1:p.Arg38Gln, XM_005273488.1:c.134G>A, NM_001159999.1:c.50G>A, 1071706, NP_001153476.1:p.Arg38Gln, NC_000008.10:g.32453358=, NP_039254.1:p.Arg38Pro, NC_000008.10:g.32453358G>A, NM_013957.3:c.113G>A, NP_039258.1:p.Arg38Gln, NC_000008.11:g.32595840G>C, NC_000008.10:g.32453358G>C, NC_000008.11:g.32595840G>A, NM_001160004.1:c.113G>A, NP_039254.1:p.Arg38Gln, NM_001160001.1:c.50G>A, NM_001160007.1:c.113G>A, NP_001153471.1:p.Arg17Gln, NM_013964.3:c.113G>A, NP_001153480.1:p.Arg38Gln, rs60068866, rs17845097, 17665390, NG_012005.2:g.961619G>A, NG_012005.2:g.961619G>C, 52817411, 17857884, NM_013962.2:c.758G>A, rs17665390, NP_039250.2:p.Arg38Gln, NP_039252.2:p.Arg38Gln, NP_039251.2:p.Arg38Gln, XP_005273545.1:p.Arg45Gln, NM_013956.3:c.113G>A, NP_039256.2:p.Arg253Gln, NC_000008.11:g.32595840=, NM_001160008.1:c.113G>A, NG_012005.2:g.961619=, rs1071706, rs386589568, rs17423515 +PA166153761 rs3925058 PA162382539 CMPK1 NC_000001.11:47331951 1 0 0 0 0 58968680, 56798655, NC_000001.11:g.47331951=, NM_001136140.1:c.-1995G>A, NC_000001.10:g.47797623=, 3925058, NC_000001.10:g.47797623G>A, rs58968680, rs3925058, NM_016308.2:c.-1995G>A, NR_046394.1:n.-1846G>A, rs56798655, NC_000001.11:g.47331951G>A, NR_046395.1:n.-1846G>A +PA166157092 rs3931660 PA356 TPMT NC_000006.12:18148874 1 1 0 0 0 NC_000006.11:g.18149105=, NC_000006.11:g.18149105A>T, rs3931660, 3931660, NC_000006.11:g.18149105A>G, NG_012137.2:g.11270T>C, NM_000367.3:c.140+114T>A, NG_012137.2:g.11270T>A, XM_011514839.1:c.140+114T>A, NC_000006.12:g.18148874A>G, NG_012137.2:g.11270=, XM_011514840.1:c.71+100T>A, NC_000006.12:g.18148874A>T, NC_000006.12:g.18148874= +PA166252969 rs39339 PA34323 RELN NC_000007.14:103819488 1 0 0 0 0 NC_000007.13:g.103459935T>G, 386589698, NG_011877.2:g.175029A>C, NC_000007.13:g.103459935T>A, 56710085, NG_011877.2:g.175029A>T, NC_000007.13:g.103459935=, NC_000007.13:g.103459935T>C, NC_000007.14:g.103819488=, 17267140, NG_011877.2:g.175029=, NC_000007.14:g.103819488T>A, NG_011877.2:g.175029A>G, 39339, NC_000007.14:g.103819488T>C, rs39339, NC_000007.14:g.103819488T>G +PA166159105 rs3934874 NC_000008.11:55001896 1 0 0 0 0 17332417, rs3934874, 3934874, NC_000008.11:g.55001896G>T, 386589730, NC_000008.11:g.55001896=, NC_000008.10:g.55914456G>A, 57565690, NC_000008.11:g.55001896G>A, NC_000008.10:g.55914456=, NC_000008.10:g.55914456G>T +PA166160687 rs393994 PA142672636 AGBL4 NC_000001.11:48643073 1 1 0 0 0 386589856, 393994, NC_000001.11:g.48643073=, NC_000001.10:g.49108745=, rs393994, NC_000001.10:g.49108745A>G, NC_000001.11:g.48643073A>G +PA166156916 rs394581 PA38016 TAGAP NC_000006.12:159061489 1 0 0 0 0 NC_000006.11:g.159482521C>T, NC_000006.12:g.159061489C>T, 394581, NC_000006.12:g.159061489=, 59433113, 56472775, NC_000006.11:g.159482521=, XM_011536288.1:c.621+2092G>A, rs59433113, rs56472775, NC_000006.12:g.159061489C>G, rs394581, XM_011536289.1:c.507+2092G>A, NC_000006.11:g.159482521C>G, rs59212643, 9456369, rs9456369, 59212643 +PA166157093 rs3957356 PA29016 GSTA1 NC_000006.12:52803872 3 1 0 0 0 NM_001319059.1:c.-264A>G, NC_000006.11:g.52668670T>A, NC_000006.11:g.52668670T>C, NC_000006.11:g.52668670T>G, NC_000006.12:g.52803872T>C, 3957356, NC_000006.12:g.52803872T>A, rs59071523, rs3957356, NC_000006.12:g.52803872T>G, NC_000006.12:g.52803872=, XM_005249034.1:c.-118A>G, XM_005249034.2:c.-118A>G, 59071523, NM_145740.4:c.-118A>G, NC_000006.11:g.52668670= +PA166157094 rs3957357 PA29016,PA29020 GSTA1,GSTA6P NC_000006.12:52803889 11 4 0 0 0 NC_000006.12:g.52803889A>T, NM_145740.4:c.-135T>C, 58145964, XM_005249034.2:c.-135T>C, NC_000006.12:g.52803889=, NC_000006.11:g.52668687A>T, NM_001319059.1:c.-281T>C, rs58145964, rs3957357, 3957357, NC_000006.12:g.52803889A>G, NC_000006.11:g.52668687=, XM_005249034.1:c.-135T>C, NC_000006.11:g.52668687A>G +PA166153571 rs396991 PA28065 FCGR3A NC_000001.11:161544752 31 8 0 0 0 NM_001127595.1:c.526T>G, 396991, 2229097, rs2229097, NG_009066.1:g.10872=, NM_001127592.1:c.631T>G, NC_000001.10:g.161514542A>C, NM_000569.6:c.634T>G, 61228128, NC_000001.10:g.161514542=, rs61228128, NP_001121068.1:p.Phe175Val, NM_001127596.1:c.523T>G, rs17857127, 4151086, rs4151086, NC_000001.11:g.161544752A>G, NP_001121064.1:p.Phe211Val, NC_000001.11:g.161544752A>C, NP_001121065.1:p.Phe176Val, NC_000001.11:g.161544752=, NG_009066.1:g.10872T>G, NP_000560.6:p.Phe281Ile, NP_001121067.1:p.Phe176Val, 17857127, NM_001127593.1:c.526T>G, NP_000560.5:p.Phe212Val, rs3171040, NP_000560.6:p.Phe281=, 3171040, NC_000001.11:g.161544752A>T, NG_009066.1:g.10872T>C, NG_009066.1:g.10872T>A, rs396991, NC_000001.10:g.161514542A>T, NC_000001.10:g.161514542A>G, NP_000560.6:p.Phe281Leu, XM_011509293.1:c.428-1553T>G, NP_000560.6:p.Phe281Val +PA166178058 rs397508139 PA109 CFTR NC_000007.14:117540237 1 1 0 0 1 397508139, NG_016465.4:g.79454=, rs397508139, NC_000007.13:g.117180291=, NG_016465.4:g.79454T>C, NP_000483.3:p.Ile336Lys, NG_016465.4:g.79454T>A, NC_000007.13:g.117180291T>A, NP_000483.3:p.Ile336=, NC_000007.13:g.117180291T>C, NC_000007.14:g.117540237=, NP_000483.3:p.Ile336Thr, NC_000007.14:g.117540237T>A, NC_000007.14:g.117540237T>C +PA166178097 rs397508144 PA109 CFTR NC_000007.14:117540251 1 0 0 0 0 NC_000007.14:g.117540251=, NG_016465.4:g.79468T>C, rs397508144, NC_000007.13:g.117180305T>C, NG_016465.4:g.79468=, NC_000007.14:g.117540251T>C, NP_000483.3:p.Ser341Pro, 397508144, NC_000007.13:g.117180305=, NP_000483.3:p.Ser341= +PA166395141 rs397508153 PA109 CFTR NC_000007.14:117540306 0 0 0 0 1 rs397508153, NC_000007.14:g.117540306A>C, NC_000007.14:g.117540306=, NP_000483.3:p.Gln359Arg, NC_000007.14:g.117540306A>G, 397508153, NG_016465.4:g.79523=, NC_000007.13:g.117180360A>G, NP_000483.3:p.Gln359=, NG_016465.4:g.79523A>C, NC_000007.13:g.117180360=, NC_000007.13:g.117180360A>C, NG_016465.4:g.79523A>G, NP_000483.3:p.Gln359Pro +PA166164939 rs397508256 PA109 CFTR NC_000007.14:117509035 1 1 0 1 3 rs397508256, NC_000007.14:g.117509035G>A, NC_000007.13:g.117149089G>A, 397508256, NC_000007.13:g.117149089=, NP_000483.3:p.Glu56=, NG_062452.1:g.673G>T, NG_016465.4:g.48252G>A, NG_016465.4:g.48252G>T, NG_062452.1:g.673=, NP_000483.3:p.Glu56Lys, NG_016465.4:g.48252=, NC_000007.14:g.117509035=, NC_000007.14:g.117509035G>T, NP_000483.3:p.Glu56Ter, NG_062452.1:g.673G>A, NC_000007.13:g.117149089G>T +PA166178075 rs397508267 PA109 CFTR NC_000007.14:117590353 1 0 0 0 0 NP_000483.3:p.Arg560=, NC_000007.14:g.117590353=, NC_000007.13:g.117230407A>C, rs397508267, NG_016465.4:g.129570=, NC_000007.13:g.117230407=, 397508267, NP_000483.3:p.Arg560Ser, NC_000007.14:g.117590353A>C, NG_016465.4:g.129570A>C +PA166178086 rs397508276 PA109 CFTR NC_000007.14:117590378 1 0 0 0 0 NP_000483.3:p.Tyr569His, rs397508276, NC_000007.13:g.117230432T>C, NC_000007.14:g.117590378T>G, NP_000483.3:p.Tyr569=, NC_000007.13:g.117230432T>G, NP_000483.3:p.Tyr569Asp, 397508276, NC_000007.14:g.117590378T>C, NC_000007.13:g.117230432=, NG_016465.4:g.129595T>G, NG_016465.4:g.129595=, NC_000007.14:g.117590378=, NG_016465.4:g.129595T>C +PA166164948 rs397508288 PA109 CFTR NC_000007.14:117590409 1 1 0 1 4 NC_000007.13:g.117230463A>G, NC_000007.14:g.117590409A>G, rs397508288, NG_016465.4:g.129626A>C, 397508288, NP_000483.3:p.Asp579=, NP_000483.3:p.Asp579Ala, NC_000007.13:g.117230463=, NG_016465.4:g.129626=, NP_000483.3:p.Asp579Gly, NC_000007.14:g.117590409=, NC_000007.14:g.117590409A>C, NG_016465.4:g.129626A>G, NC_000007.13:g.117230463A>C +PA166394662 rs397508300 PA109 CFTR NC_000007.14:117590439 0 0 0 0 1 NP_000483.3:p.Ser589Thr, NG_016465.4:g.129656G>C, NP_000483.3:p.Ser589Ile, NC_000007.13:g.117230493G>C, rs397508300, NG_016465.4:g.129656G>A, NC_000007.14:g.117590439G>T, NC_000007.13:g.117230493G>A, 397508300, NG_016465.4:g.129656=, NC_000007.13:g.117230493G>T, NG_016465.4:g.129656G>T, NC_000007.14:g.117590439G>A, NC_000007.14:g.117590439G>C, NP_000483.3:p.Ser589=, NC_000007.14:g.117590439=, NP_000483.3:p.Ser589Asn, NC_000007.13:g.117230493= +PA166178063 rs397508328 PA109 CFTR NC_000007.14:117480095 1 1 0 0 0 NC_000007.14:g.117480095=, NG_056120.1:g.4125A>G, NG_016465.4:g.19312=, 397508328, NG_056120.2:g.4125A>G, NG_056120.1:g.4125=, NP_000483.3:p.Met1Val, rs397508328, NG_016465.4:g.19312A>G, NG_056120.2:g.4125=, NP_000483.3:p.Met1=, NC_000007.13:g.117120149=, NC_000007.13:g.117120149A>G, NC_000007.14:g.117480095A>G +PA166395162 rs397508378 PA109 CFTR NC_000007.14:117592631 0 0 0 0 1 NC_000007.13:g.117232685G>T, NC_000007.14:g.117592631=, NP_000483.3:p.Glu822=, 397508378, NC_000007.14:g.117592631G>T, NG_016465.4:g.131848=, rs397508378, NG_016465.4:g.131848G>T, NC_000007.14:g.117592631G>A, NC_000007.13:g.117232685=, NC_000007.13:g.117232685G>A, NG_016465.4:g.131848G>A, NP_000483.3:p.Glu822Lys, NP_000483.3:p.Glu822Ter +PA166196982 rs397508387 PA109 CFTR NC_000007.14:117594930 0 0 0 0 2 rs397508387, NC_000007.13:g.117234984=, NC_000007.13:g.117234984G>T, NG_016465.4:g.134147=, NG_016465.4:g.134147G>T, NP_000483.3:p.Glu831=, 397508387, NC_000007.14:g.117594930=, NC_000007.14:g.117594930G>T, NP_000483.3:p.Glu831Ter +PA166178067 rs397508435 PA109 CFTR NC_000007.14:117603654 1 1 0 0 0 397508435, NC_000007.14:g.117603654T>A, NC_000007.13:g.117243708T>C, NC_000007.14:g.117603654T>C, NC_000007.13:g.117243708T>A, rs397508435, NC_000007.13:g.117243708=, NP_000483.3:p.Leu927=, NG_016465.4:g.142871T>A, NC_000007.14:g.117603654=, NG_016465.4:g.142871T>C, NP_000483.3:p.Leu927Pro, NP_000483.3:p.Leu927His, NG_016465.4:g.142871= +PA166395163 rs397508440 PA109 CFTR NC_000007.14:117603690 0 0 0 0 1 NP_000483.3:p.His939=, rs397508440, NG_016465.4:g.142907A>G, NC_000007.13:g.117243744=, NC_000007.13:g.117243744A>G, NC_000007.14:g.117603690A>G, NC_000007.14:g.117603690=, NG_016465.4:g.142907=, NP_000483.3:p.His939Arg, 397508440 +PA166164949 rs397508442 PA109 CFTR NC_000007.14:117603708 2 1 0 1 5 NC_000007.13:g.117243762=, NP_000483.3:p.Ser945Leu, rs397508442, NC_000007.13:g.117243762C>T, NG_016465.4:g.142925=, NP_000483.3:p.Ser945=, NC_000007.14:g.117603708=, NG_016465.4:g.142925C>T, NC_000007.14:g.117603708C>T, 397508442 +PA166178138 rs397508453 PA109 CFTR NC_000007.14:117603782 1 1 0 0 1 NG_016465.4:g.142999=, rs397508453, NC_000007.13:g.117243836=, NG_016465.4:g.142999G>A, NG_016465.4:g.142999G>C, 397508453, NP_000483.3:p.Gly970Arg, NC_000007.14:g.117603782=, NC_000007.13:g.117243836G>A, NP_000483.3:p.Gly970Ser, NC_000007.14:g.117603782G>A, NC_000007.13:g.117243836G>C, NP_000483.3:p.Gly970=, NC_000007.14:g.117603782G>C +PA166178060 rs397508510 PA109 CFTR NC_000007.14:117611601 1 1 0 0 1 NP_000483.3:p.His1054=, 397508510, NP_000483.3:p.His1054Asp, NC_000007.13:g.117251655C>T, NG_016465.4:g.150818=, NG_056128.2:g.4655C>T, NG_056128.1:g.4655=, NG_056128.1:g.4655C>G, rs397508510, NC_000007.14:g.117611601C>T, NC_000007.13:g.117251655=, NG_016465.4:g.150818C>G, NP_000483.3:p.His1054Tyr, NC_000007.14:g.117611601=, NC_000007.13:g.117251655C>G, NG_056128.1:g.4655C>T, NG_056128.2:g.4655=, NC_000007.14:g.117611601C>G, NG_056128.2:g.4655C>G, NG_016465.4:g.150818C>T +PA166164952 rs397508513 PA109 CFTR NC_000007.14:117611620 1 1 0 1 3 397508513, NG_056128.1:g.4674=, NG_016465.4:g.150837=, NG_056128.2:g.4674A>C, NP_000483.3:p.Lys1060Thr, rs397508513, NG_056128.1:g.4674A>C, NC_000007.13:g.117251674=, NG_016465.4:g.150837A>C, NC_000007.14:g.117611620=, NC_000007.14:g.117611620A>C, NP_000483.3:p.Lys1060=, NG_056128.2:g.4674=, NC_000007.13:g.117251674A>C +PA166395502 rs397508533 PA109 CFTR NC_000007.14:117611735 0 0 0 0 1 397508533, NG_016465.4:g.150952=, NG_016465.4:g.150952G>T, NC_000007.13:g.117251789G>T, rs397508533, NP_000483.3:p.Trp1098=, NC_000007.14:g.117611735G>T, NG_056128.2:g.4789G>T, NC_000007.13:g.117251789=, NG_016465.4:g.150952G>C, NP_000483.3:p.Trp1098Cys, NC_000007.13:g.117251789G>A, NG_016465.4:g.150952G>A, NC_000007.13:g.117251789G>C, NG_056128.2:g.4789G>C, NC_000007.14:g.117611735=, NG_056128.2:g.4789G>A, NG_056128.2:g.4789=, NC_000007.14:g.117611735G>C, NC_000007.14:g.117611735G>A, NP_000483.3:p.Trp1098Ter +PA166164942 rs397508537 PA109 CFTR NC_000007.14:117530955 1 1 0 1 3 NC_000007.14:g.117530955C>A, NC_000007.13:g.117171009=, 397508537, NC_000007.13:g.117171009C>A, NC_000007.14:g.117530955=, NG_016465.4:g.70172C>A, NP_000483.3:p.Asp110=, NG_016465.4:g.70172=, rs397508537, NP_000483.3:p.Asp110Glu +PA166394341 rs397508556 PA109 CFTR NC_000007.14:117614660 0 0 0 0 1 397508556, NC_000007.13:g.117254714=, NP_000483.3:p.Ile1139Val, NC_000007.14:g.117614660A>G, rs397508556, NC_000007.13:g.117254714A>G, NP_000483.3:p.Ile1139=, NC_000007.14:g.117614660=, NG_016465.4:g.153877A>G, NG_016465.4:g.153877= +PA166394581 rs397508572 PA109 CFTR NC_000007.14:117627528 1 1 0 0 1 NG_016465.4:g.166745T>C, NP_000483.3:p.Ser1159Pro, rs397508572, NP_000483.3:p.Ser1159=, NC_000007.13:g.117267582T>C, NC_000007.13:g.117267582=, NC_000007.14:g.117627528T>C, NC_000007.14:g.117627528=, 397508572, NG_016465.4:g.166745= +PA166394541 rs397508573 PA109 CFTR NC_000007.14:117627529 1 1 0 0 2 NG_016465.4:g.166746C>T, NC_000007.14:g.117627529C>T, NP_000483.3:p.Ser1159Phe, rs397508573, NC_000007.13:g.117267583C>T, NP_000483.3:p.Ser1159=, NC_000007.14:g.117627529=, NC_000007.13:g.117267583=, 397508573, NG_016465.4:g.166746= +PA166178193 rs397508602 PA109 CFTR NC_000007.14:117642465 1 1 0 0 1 NG_016465.4:g.181682=, 397508602, rs397508602, NC_000007.13:g.117282519=, NP_000483.3:p.Gly1249=, NC_000007.14:g.117642465G>A, NC_000007.13:g.117282519G>C, NC_000007.14:g.117642465G>C, NC_000007.13:g.117282519G>A, NC_000007.14:g.117642465=, NG_016465.4:g.181682G>A, NP_000483.3:p.Gly1249Arg, NG_016465.4:g.181682G>C +PA166395061 rs397508616 PA109 CFTR NC_000007.14:117642564 0 0 0 0 2 397508616, NG_016465.4:g.181781=, NG_016465.4:g.181781T>G, NP_000483.3:p.Trp1282=, NC_000007.13:g.117282618=, rs397508616, NP_000483.3:p.Trp1282Arg, NP_000483.3:p.Trp1282Gly, NC_000007.14:g.117642564T>G, NC_000007.14:g.117642564=, NC_000007.13:g.117282618T>C, NG_016465.4:g.181781T>C, NC_000007.13:g.117282618T>G, NC_000007.14:g.117642564T>C +PA166394521 rs397508621 PA109 CFTR NC_000007.14:117642592 0 0 0 0 1 NG_016465.4:g.181809A>G, 397508621, NP_000483.3:p.Gln1291=, NC_000007.14:g.117642592=, NC_000007.13:g.117282646=, rs397508621, NC_000007.14:g.117642592A>G, NG_016465.4:g.181809=, NC_000007.13:g.117282646A>G, NP_000483.3:p.Gln1291Arg +PA166395181 rs397508678 PA109 CFTR NC_000007.14:117664848 0 0 0 0 1 397508678, NC_000007.14:g.117664848A>G, NC_000007.14:g.117664848A>C, NP_000483.3:p.His1375=, NG_016465.4:g.204065=, rs397508678, NC_000007.13:g.117304902A>G, NG_016465.4:g.204065A>C, NC_000007.13:g.117304902A>C, NP_000483.3:p.His1375Pro, NC_000007.14:g.117664848=, NP_000483.3:p.His1375Arg, NC_000007.13:g.117304902=, NG_016465.4:g.204065A>G +PA166394901 rs397508721 PA109 CFTR NC_000007.14:117531079 0 0 0 0 1 NC_000007.14:g.117531079A>G, 397508721, rs397508721, NP_000483.3:p.Met152=, NC_000007.13:g.117171133A>T, NC_000007.13:g.117171133=, NG_016465.4:g.70296A>G, NP_000483.3:p.Met152Leu, NG_016465.4:g.70296=, NC_000007.14:g.117531079A>T, NC_000007.14:g.117531079=, NP_000483.3:p.Met152Val, NG_016465.4:g.70296A>T, NC_000007.13:g.117171133A>G +PA166394681 rs397508744 PA109 CFTR NC_000007.14:117534309 0 0 0 0 1 397508744, NG_016465.4:g.73526A>G, NG_016465.4:g.73526=, NC_000007.13:g.117174363A>G, NP_000483.3:p.Ile175Val, rs397508744, NC_000007.14:g.117534309A>G, NP_000483.3:p.Ile175=, NC_000007.13:g.117174363=, NC_000007.14:g.117534309= +PA166394762 rs397508748 PA109 CFTR NC_000007.14:117534319 0 0 0 0 1 NC_000007.13:g.117174373G>A, 397508748, NP_000483.3:p.Gly178Glu, NG_016465.4:g.73536G>A, NP_000483.3:p.Gly178=, NC_000007.14:g.117534319=, NC_000007.13:g.117174373=, NC_000007.14:g.117534319G>A, rs397508748, NG_016465.4:g.73536= +PA166394881 rs397508758 PA109 CFTR NC_000007.14:117534361 0 0 0 0 1 NP_000483.3:p.Asp192Val, 397508758, NC_000007.13:g.117174415=, NP_000483.3:p.Asp192=, NC_000007.14:g.117534361A>G, NG_016465.4:g.73578=, NP_000483.3:p.Asp192Gly, rs397508758, NC_000007.13:g.117174415A>G, NG_016465.4:g.73578A>T, NC_000007.14:g.117534361=, NC_000007.14:g.117534361A>T, NG_016465.4:g.73578A>G, NC_000007.13:g.117174415A>T +PA166164945 rs397508759 PA109 CFTR NC_000007.14:117534363 1 1 0 1 2 NP_000483.3:p.Glu193Ter, 397508759, NG_016465.4:g.73580G>T, NC_000007.13:g.117174417=, NC_000007.14:g.117534363G>A, rs397508759, NC_000007.13:g.117174417G>A, NC_000007.14:g.117534363=, NP_000483.3:p.Glu193=, NG_016465.4:g.73580=, NG_016465.4:g.73580G>A, NC_000007.14:g.117534363G>T, NC_000007.13:g.117174417G>T, NP_000483.3:p.Glu193Lys +PA166196981 rs397508761 PA109 CFTR NC_000007.14:117534368 0 0 0 0 3 NG_016465.4:g.73585A>G, rs397508761, NG_016465.4:g.73585=, NC_000007.14:g.117534368A>C, 397508761, NC_000007.14:g.117534368A>G, NC_000007.13:g.117174422A>T, NG_016465.4:g.73585A>C, NG_016465.4:g.73585A>T, NC_000007.14:g.117534368=, NC_000007.13:g.117174422A>C, NC_000007.13:g.117174422=, NC_000007.14:g.117534368A>T, NC_000007.13:g.117174422A>G +PA166394302 rs397508783 PA109 CFTR NC_000007.14:117535363 0 0 0 0 1 NG_016465.4:g.74580=, NC_000007.14:g.117535363=, NG_016465.4:g.74580T>A, NC_000007.14:g.117535363T>A, NC_000007.13:g.117175417=, NP_000483.3:p.Val232=, rs397508783, NC_000007.13:g.117175417T>A, NP_000483.3:p.Val232Asp, 397508783 +PA166394641 rs397508784 PA109 CFTR NC_000007.14:117535377 0 0 0 0 1 NC_000007.13:g.117175431C>G, NG_016465.4:g.74594=, rs397508784, NC_000007.14:g.117535377C>G, NC_000007.14:g.117535377=, NP_000483.3:p.Gln237Glu, 397508784, NC_000007.13:g.117175431=, NG_016465.4:g.74594C>G, NP_000483.3:p.Gln237= +PA166395101 rs397508785 PA109 CFTR NC_000007.14:117535379 0 0 0 0 1 397508785, NC_000007.14:g.117535379=, rs397508785, NC_000007.13:g.117175433=, NP_000483.3:p.Gln237His, NP_000483.3:p.Gln237=, NG_016465.4:g.74596G>A, NG_016465.4:g.74596G>C, NC_000007.14:g.117535379G>C, NC_000007.13:g.117175433G>A, NC_000007.13:g.117175433G>C, NC_000007.14:g.117535379G>A, NG_016465.4:g.74596= +PA166185937 rs397515870 PA28707 GLA NC_000023.11:101400692 1 1 0 0 0 NP_000160.1:p.Pro205Thr, rs397515870, NC_000023.10:g.100655680=, NC_000023.11:g.101400692G>T, NC_000023.10:g.100655680G>C, NP_000160.1:p.Pro205=, 397515870, NG_007119.1:g.12272=, NC_000023.11:g.101400692=, NG_007119.1:g.12272C>A, NC_000023.11:g.101400692G>C, NP_000160.1:p.Pro205Ala, NC_000023.10:g.100655680G>T, NG_007119.1:g.12272C>G +PA166185905 rs397515874 PA28707 GLA NC_000023.11:101398857 1 1 0 0 0 NC_000023.11:g.101398857=, NC_000023.11:g.101398857C>G, rs397515874, NP_000160.1:p.Leu243Phe, NC_000023.11:g.101398857C>T, NC_000023.10:g.100653845C>T, NP_000160.1:p.Leu243=, NG_007119.1:g.14107=, NG_007119.1:g.14107G>C, NG_007119.1:g.14107G>A, 397515874, NC_000023.10:g.100653845C>G, NC_000023.10:g.100653845= +PA166157237 rs398122996 PA356 TPMT NC_000006.12:18130758 1 1 1 0 0 398122996, NC_000006.11:g.18130989=, NG_012137.2:g.29386=, NG_012137.2:g.29386T>A, NM_000367.3:c.648T>A, XP_011513141.1:p.Cys201Ter, NC_000006.11:g.18130989A>T, NC_000006.12:g.18130758=, XM_011514839.1:c.603T>A, XM_011514840.1:c.579T>A, NC_000006.12:g.18130758A>T, NP_000358.1:p.Cys216=, XP_011513142.1:p.Cys193Ter, rs398122996, NP_000358.1:p.Cys216Ter +PA166185903 rs398123212 PA28707 GLA NC_000023.11:101400757 1 1 0 0 0 NG_007119.1:g.12207G>A, NC_000023.10:g.100655745C>T, NC_000023.11:g.101400757C>T, NP_000160.1:p.Gly183Asp, 398123212, NP_000160.1:p.Gly183Val, NC_000023.11:g.101400757C>A, NG_007119.1:g.12207=, NG_007119.1:g.12207G>T, NC_000023.10:g.100655745C>A, NP_000160.1:p.Gly183=, NC_000023.11:g.101400757=, rs398123212, NC_000023.10:g.100655745= +PA166185904 rs398123217 PA28707 GLA NC_000023.11:101398939 1 1 0 0 0 398123217, NC_000023.11:g.101398939T>C, NG_007119.1:g.14025=, NC_000023.10:g.100653927T>C, NG_007119.1:g.14025A>G, NP_000160.1:p.Tyr216Cys, NP_000160.1:p.Tyr216=, rs398123217, NC_000023.10:g.100653927=, NC_000023.11:g.101398939= +PA166185918 rs398123223 PA28707 GLA NC_000023.11:101398470 1 1 0 0 0 NC_000023.11:g.101398470=, NC_000023.10:g.100653458=, NP_000160.1:p.Leu300Pro, NG_007119.1:g.14494=, 398123223, NC_000023.11:g.101398470A>G, NC_000023.10:g.100653458A>G, rs398123223, NG_007119.1:g.14494T>C, NP_000160.1:p.Leu300= +PA166185909 rs398123226 PA28707 GLA NC_000023.11:101398403 2 1 0 0 0 NC_000023.11:g.101398403G>C, NG_007119.1:g.14561C>A, NC_000023.10:g.100653391=, 398123226, NC_000023.10:g.100653391G>C, NC_000023.11:g.101398403G>T, NG_007119.1:g.14561C>G, NG_007119.1:g.14561=, NP_000160.1:p.Asp322=, NP_000160.1:p.Asp322Glu, rs398123226, NC_000023.10:g.100653391G>T, NC_000023.11:g.101398403= +PA166232228 rs3983721 PA28983 GRIN3A NC_000009.12:101733129 1 0 0 0 0 57821763, 4278210, NC_000009.12:g.101733129C>T, NC_000009.12:g.101733129=, 17200121, 3983721, rs3983721, NC_000009.11:g.104495411=, NC_000009.11:g.104495411C>T +PA166170129 rs40184 PA311 SLC6A3 NC_000005.10:1394962 1 0 0 0 0 NC_000005.9:g.1395077=, 40184, NC_000005.9:g.1395077C>T, NG_015885.1:g.55467=, 386590215, NC_000005.10:g.1394962C>T, NC_000005.10:g.1394962=, rs40184, 60139997, NG_015885.1:g.55467G>A, 3776515 +PA166155979 rs402007 PA24536 ADAMTS1 NC_000021.9:26845001 1 1 0 0 0 NM_006988.4:c.-47G>C, NC_000021.9:g.26845001C>T, NC_000021.9:g.26845001C>G, rs59674914, 402007, NC_000021.8:g.28217320=, rs402007, NC_000021.8:g.28217320C>T, NC_000021.8:g.28217320C>G, NC_000021.9:g.26845001=, 59674914 +PA166157245 rs40239 PA30763 MET NC_000007.14:116677823 3 0 0 0 0 rs17138911, NC_000007.14:g.116677823=, NG_008996.1:g.10419G>A, NC_000007.14:g.116677823G>A, rs40239, NC_000007.13:g.116317877G>A, NM_000245.2:c.-15+5246G>A, 40239, XM_005250353.1:c.-8+5246G>A, XM_006715991.2:c.-91+5246G>A, XM_011516223.1:c.-8+5246G>A, 59227473, NM_001127500.1:c.-15+5246G>A, NG_008996.1:g.10419=, rs59227473, 17138911, NC_000007.13:g.116317877= +PA166283741 rs4035887 PA27809 EPAS1 NC_000002.12:46340088 2 1 0 0 0 NC_000002.12:g.46340088A>G, 59438738, NC_000002.11:g.46567227=, NG_016000.1:g.47687A>G, rs4035887, NC_000002.12:g.46340088A>C, NC_000002.11:g.46567227A>T, NG_016000.1:g.47687A>C, 4035887, NC_000002.11:g.46567227A>G, NG_016000.1:g.47687=, NC_000002.12:g.46340088=, NC_000002.11:g.46567227A>C, NC_000002.12:g.46340088A>T, NG_016000.1:g.47687A>T +PA166170122 rs403636 PA311 SLC6A3 NC_000005.10:1438239 2 0 0 0 0 NC_000005.9:g.1438354=, NG_015885.1:g.12190=, NC_000005.10:g.1438239A>T, rs403636, NC_000005.9:g.1438354A>T, 386590284, NC_000005.10:g.1438239=, 58186928, NG_015885.1:g.12190T>A, NC_000005.10:g.1438239A>C, 403636, NC_000005.9:g.1438354A>C, NG_015885.1:g.12190T>G +PA166191043 rs405509 PA55 APOE NC_000019.10:44905579 3 0 0 0 0 NG_042854.1:g.19360T>G, 676912, NG_007084.2:g.4798=, 386590358, NG_007084.2:g.4798T>G, NC_000019.10:g.44905579T>G, rs405509, APOE-219T/G [PMID:28900374], NC_000019.9:g.45408836=, 60575746, NC_000019.9:g.45408836T>G, 405509, NG_042854.1:g.19360=, NC_000019.10:g.44905579= +PA166209126 rs4072824 PA351 TH NC_000011.10:2166209 1 0 0 0 0 NC_000011.9:g.2187439C>A, NG_008128.1:g.10597G>T, NG_050578.1:g.1=, NG_008128.1:g.10597=, NG_050578.1:g.1G>T, 4072824, NC_000011.9:g.2187439=, rs4072824, NC_000011.10:g.2166209C>A, NC_000011.9:g.2187439C>G, NC_000011.10:g.2166209C>G, NC_000011.10:g.2166209=, NG_008128.1:g.10597G>C, NG_050578.1:g.1G>C +PA166170886 rs4072879 PA134931578 VKORC1L1 NC_000007.14:65908864 1 1 0 0 0 NC_000007.13:g.65373851=, NG_051954.1:g.40766A>C, 4072879, rs4072879, NC_000007.13:g.65373851A>G, NG_051954.1:g.40766A>G, NC_000007.14:g.65908864A>C, NC_000007.14:g.65908864=, 59599460, NC_000007.13:g.65373851A>C, NG_051954.1:g.40766=, NC_000007.14:g.65908864A>G +PA166156478 rs4073 PA29841 CXCL8 NC_000004.12:73740307 8 1 0 0 0 4073, NG_029889.1:g.4802A>G, NC_000004.11:g.74606024A>T, NG_029889.1:g.4802A>C, NC_000004.12:g.73740307A>T, rs4073, NC_000004.11:g.74606024=, NC_000004.11:g.74606024A>G, NC_000004.12:g.73740307=, NG_029889.1:g.4802A>T, NC_000004.11:g.74606024A>C, NG_029889.1:g.4802=, NM_000584.3:c.-352A>T, NC_000004.12:g.73740307A>G, NC_000004.12:g.73740307A>C +PA166323063 rs4073010 NC_000002.12:215880668 2 0 0 0 0 NC_000002.11:g.216745391C>T, NC_000002.12:g.215880668=, NC_000002.12:g.215880668C>T, 17486042, 386590485, NC_000002.11:g.216745391=, rs4073010, 4073010 +PA166153762 rs4073054 PA391,PA142670714 NR1I3,TOMM40L NC_000001.11:161230697 2 0 0 0 0 NM_032174.5:c.*1602C>A, XM_005245694.1:c.1145+116G>T, 17393733, 57597870, NM_001077474.2:c.800+116G>T, NM_001077476.2:c.845+116G>T, NC_000001.11:g.161230697C>T, NC_000001.11:g.161230697=, NG_029113.1:g.12514G>C, XM_005245693.3:c.1160+116G>T, XM_005245536.1:c.*1602C>A, NC_000001.10:g.161200487C>T, XM_005245538.1:c.*1602C>A, XM_005245696.1:c.1058+116G>T, NG_029113.1:g.12514G>A, rs56504295, NM_001077482.2:c.944+116G>T, NC_000001.10:g.161200487=, NM_001077481.2:c.815+116G>T, XM_005245698.1:c.*46+116G>T, rs386590491, NG_029113.1:g.12514=, XM_005245697.3:c.932+116G>T, XM_011510057.1:c.*1602C>A, NM_001077470.2:c.713+116G>T, XM_005245693.1:c.1160+116G>T, XM_005245699.1:c.*46+116G>T, NM_001077478.2:c.929+116G>T, NM_001077472.2:c.845+116G>T, rs57597870, XM_006711572.1:c.*1602C>A, NG_029113.1:g.12514G>T, XM_005245697.1:c.932+116G>T, 4073054, 56504295, XM_005245694.3:c.1145+116G>T, XM_005245695.1:c.1031+116G>T, NM_001077469.2:c.932+116G>T, XM_011510237.1:c.1031+116G>T, XM_005245537.1:c.*1602C>A, rs17393733, NM_001077479.2:c.830+116G>T, NM_001077475.2:c.713+116G>T, NC_000001.10:g.161200487C>A, NM_001077477.2:c.830+116G>T, NC_000001.10:g.161200487C>G, NM_001286373.1:c.*1602C>A, NM_001286374.1:c.*1602C>A, 386590491, NM_001077480.2:c.929+116G>T, NM_005122.4:c.917+116G>T, NC_000001.11:g.161230697C>A, NM_001077471.2:c.800+116G>T, rs4073054, NC_000001.11:g.161230697C>G, NM_001077473.2:c.857+116G>T +PA166155059 rs4074471 PA29473 HS3ST4 NC_000016.10:25948029 1 0 0 0 0 NC_000016.10:g.25948029=, NM_006040.2:c.735-187583T>G, NC_000016.10:g.25948029T>G, 60332080, rs4074471, 4074471, rs60332080, NC_000016.9:g.25959350=, NC_000016.9:g.25959350T>G +PA166209041 rs4074905 PA351 TH NC_000011.10:2167955 1 0 0 0 0 NC_000011.10:g.2167955=, NG_008128.1:g.8851=, NC_000011.10:g.2167955G>A, NC_000011.9:g.2189185G>A, NC_000011.9:g.2189185G>C, NG_008128.1:g.8851C>T, NG_008128.1:g.8851C>G, rs4074905, 4074905, 60166071, NC_000011.9:g.2189185=, NC_000011.10:g.2167955G>C +PA166154045 rs4086116 PA126 CYP2C9 NC_000010.11:94947445 2 2 0 0 0 rs4086116, NG_008385.1:g.13788=, NG_008385.2:g.14288C>T, NC_000010.11:g.94947445=, 4086116, NC_000010.10:g.96707202=, NG_008385.2:g.14288=, rs57822479, NC_000010.11:g.94947445C>T, XM_005269575.1:c.482-334C>T, 56627368, NC_000010.10:g.96707202C>T, NM_000771.3:c.482-334C>T, NG_008385.1:g.13788C>T, 57822479, rs56627368 +PA166156732 rs408626 PA143,PA31134 DHFR,MSH3 NC_000005.10:80655314 4 1 0 0 0 XM_005248455.1:c.-1282A>G, 408626, XM_005248456.1:c.-931A>G, NR_110936.1:n.-333A>G, NG_016607.1:g.5840T>C, NM_001290357.1:c.-825A>G, rs3776963, 3776963, NM_000791.3:c.-825A>G, NC_000005.9:g.79951133T>C, NM_001290354.1:c.-931A>G, 36231776, NC_000005.9:g.79951133=, NG_016607.2:g.5840T>C, rs408626, NC_000005.10:g.80655314=, NC_000005.10:g.80655314T>C, NG_016607.2:g.5840=, NG_023304.1:g.4668=, NG_016607.1:g.5840=, rs36231776, NG_023304.1:g.4668A>G, NM_002439.4:c.237+350T>C +PA166205201 rs4105144 NC_000019.10:40852719 3 0 0 0 0 rs4105144, 4105144, NC_000019.9:g.41358624T>C, NG_055456.1:g.2394T>C, NC_000019.10:g.40852719=, NC_000019.9:g.41358624=, NC_000019.10:g.40852719T>C, NG_008377.1:g.2729=, NG_008377.1:g.2729A>G, NG_055456.1:g.2394= +PA166288781 rs4122238 PA107 CES1 NC_000016.10:55822805 1 0 0 0 0 rs4122238, 4122238, NG_012057.1:g.15359T>A, NG_012057.1:g.15359T>C, 386591048, NC_000016.9:g.55856717=, NC_000016.10:g.55822805A>C, NC_000016.9:g.55856717A>T, NG_012057.1:g.15359=, NC_000016.10:g.55822805A>G, NC_000016.9:g.55856717A>C, NG_012057.1:g.15359T>G, NC_000016.10:g.55822805A>T, NC_000016.9:g.55856717A>G, NC_000016.10:g.55822805= +PA166155720 rs4124874 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233757013 33 3 1 0 0 NC_000002.12:g.233757013T>C, XR_241238.1:n.924-10021T>G, rs57409706, NM_007120.2:c.868-10021T>G, NG_033238.1:g.1741T>A, NM_019076.4:c.856-10021T>G, NG_033238.1:g.1741T>C, NC_000002.12:g.233757013T>A, NG_033238.1:g.1741T>G, 4124874, rs4124874, NC_000002.12:g.233757013=, NM_019077.2:c.856-10021T>G, NM_019093.2:c.868-10021T>G, 57409706, NC_000002.11:g.234665659T>A, NM_021027.2:c.856-10021T>G, NM_205862.1:c.61-10021T>G, XR_241241.1:n.942-10021T>G, NM_019078.1:c.868-10021T>G, NC_000002.12:g.233757013T>G, NR_037696.1:n.-1668A>C, NC_000002.11:g.234665659T>G, NM_001072.3:c.862-10021T>G, NC_000002.11:g.234665659T>C, NG_033238.1:g.1741=, XR_241240.1:n.1023-10021T>G, NG_002601.2:g.172270T>A, NC_000002.11:g.234665659=, NG_002601.2:g.172270=, NG_002601.2:g.172270T>G, NM_019075.2:c.856-10021T>G, NR_037695.1:n.-1668A>C, NR_037694.1:n.-1668A>C, NG_002601.2:g.172270T>C +PA166186027 rs41261344 PA304 SCN5A NC_000003.12:38575385 1 0 0 0 0 41261344, NP_000326.2:p.Arg1192=, NC_000003.12:g.38575385=, NG_008934.1:g.79288G>A, rs41261344, NC_000003.12:g.38575385C>T, NC_000003.11:g.38616876=, NC_000003.11:g.38616876C>T, NP_000326.2:p.Arg1192Gln, NG_008934.1:g.79288= +PA166216401 rs41268673 PA35010 SCN9A NC_000002.12:166284599 1 0 0 0 0 NC_000002.11:g.167141109=, NP_002968.1:p.Pro610Thr, 41268673, NC_000002.11:g.167141109G>C, NC_000002.12:g.166284599G>C, 80356472, NG_012798.1:g.96389=, NG_012798.1:g.96389C>G, NP_002968.1:p.Pro610=, NC_000002.12:g.166284599G>T, NG_012798.1:g.96389C>A, rs41268673, NC_000002.11:g.167141109G>T, NP_002968.1:p.Pro610Ala, NC_000002.12:g.166284599= +PA166206602 rs41269255 PA33524 POM121L2 NC_000006.12:27309272 1 1 0 0 0 NP_258443.2:p.Ala967Pro, NC_000006.11:g.27277051=, NC_000006.11:g.27277051C>T, NP_258443.2:p.Ala967=, NC_000006.12:g.27309272C>G, 117634319, 41269255, NP_258443.2:p.Ala967Thr, NC_000006.12:g.27309272=, NC_000006.11:g.27277051C>G, 61736080, NC_000006.12:g.27309272C>T, rs41269255 +PA166157204 rs41271330 PA25382 BMP5 NC_000006.12:55774230 2 1 0 0 0 XM_011514817.1:c.846C>T, XM_005249303.1:c.846C>T, NC_000006.12:g.55774230=, XM_005249304.2:c.846C>T, XP_011513118.1:p.Asn282=, NP_066551.1:p.Asn282=, XP_005249361.1:p.Asn282=, XP_011513119.1:p.Asn282=, rs61746335, NC_000006.11:g.55639028=, NC_000006.11:g.55639028G>A, XP_005249360.1:p.Asn282=, XM_005249304.1:c.846C>T, NM_021073.2:c.846C>T, 117481963, rs41271330, XM_011514816.1:c.846C>T, XP_005249359.1:p.Asn282=, 61746335, NC_000006.12:g.55774230G>A, rs117481963, XM_005249302.1:c.846C>T, 41271330 +PA166153883 rs41273215 PA162399233 PEAR1 NC_000001.11:156912167 3 2 0 0 0 XM_011509512.1:c.1445-80C>T, XM_011509508.1:c.1979-80C>T, XM_011509511.1:c.1847-80C>T, XM_005245141.2:c.1952-80C>T, NC_000001.11:g.156912167C>T, NC_000001.10:g.156881959C>T, XM_005245142.1:c.1760-80C>T, NC_000001.10:g.156881959=, XM_005245141.1:c.1952-80C>T, rs41273215, NM_001080471.1:c.1952-80C>T, XM_006711302.2:c.1979-80C>T, 41273215, NC_000001.11:g.156912167=, XM_011509509.1:c.1979-80C>T, XM_011509510.1:c.1952-80C>T +PA166157489 rs41279854 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99650149 2 0 0 0 0 XP_011514146.1:p.Phe333Ser, NP_001278759.1:p.Phe436Ser, NR_033808.1:n.1939T>C, XM_005250198.1:c.805+25969A>G, 41279854, XM_011515846.1:c.797T>C, NG_007938.1:g.34850T>C, XM_005250173.1:c.797T>C, NM_000777.4:c.1337T>C, XM_005250172.1:c.998T>C, XP_011514147.1:p.Phe266Ser, NC_000007.13:g.99247772A>G, XP_005250227.1:p.Phe333Ser, XM_005250171.1:c.998T>C, NP_000768.1:p.Phe446=, NR_033809.1:n.1699T>C, XM_011515844.1:c.998T>C, XP_011514149.1:p.Phe266Ser, NM_001291829.1:c.998T>C, NC_000007.13:g.99247772=, XP_005250229.1:p.Phe333Ser, XP_011514145.1:p.Phe333Ser, XM_011515845.1:c.797T>C, NP_001278758.1:p.Phe333Ser, XM_005250170.1:c.998T>C, NP_000768.1:p.Phe446Ser, XM_011515843.1:c.998T>C, XM_005250169.1:c.1307T>C, XM_011515847.1:c.797T>C, NR_033807.2:n.3071T>C, rs41279854, NM_001291830.1:c.1307T>C, XM_011515909.1:c.806-18946A>G, XP_005250226.1:p.Phe436Ser, XP_005250230.1:p.Phe266Ser, XP_011514148.1:p.Phe266Ser, XR_927402.1:n.1466+25969A>G, NG_007938.1:g.34850=, NC_000007.14:g.99650149A>G, XP_005250228.1:p.Phe333Ser, NC_000007.14:g.99650149= +PA166156685 rs41282401 PA390 ABCG2 NC_000004.12:88115014 1 1 0 0 0 XM_005263355.2:c.886G>C, NC_000004.11:g.89036166C>G, NC_000004.12:g.88115014=, XM_005263354.1:c.886G>C, XP_005263413.1:p.Asp296His, XP_011530722.1:p.Asp296His, 41282401, XP_005263411.1:p.Asp296His, XP_005263412.1:p.Asp296His, NP_004818.2:p.Asp296=, NC_000004.12:g.88115014C>G, NM_004827.2:c.886G>C, NM_001257386.1:c.886G>C, XM_005263355.1:c.886G>C, NP_001244315.1:p.Asp296His, NC_000004.11:g.89036166=, rs41282401, NG_032067.2:g.121309G>C, XM_005263356.1:c.886G>C, NG_032067.2:g.121309=, XM_005263356.2:c.886G>C, NP_004818.2:p.Asp296His, XM_005263354.2:c.886G>C, XM_011532420.1:c.886G>C +PA166170210 rs41285690 PA145 DPYD NC_000001.11:97077914 1 0 0 0 0 41285690, NC_000001.11:g.97077914T>C, NC_000001.10:g.97543470=, NC_000001.11:g.97077914=, NG_008807.2:g.848146=, NC_000001.10:g.97543470T>C, rs41285690, NG_008807.2:g.848146A>G +PA166281262 rs41291550 PA127 CYP2C18 NC_000010.11:94687805 1 0 0 0 0 NC_000010.10:g.96447562=, NC_000010.11:g.94687805=, NC_000010.11:g.94687805T>A, NP_000763.1:p.Tyr68=, 41291550, NG_008373.1:g.9312T>A, rs41291550, NC_000010.10:g.96447562T>A, NG_008373.1:g.9312=, NP_000763.1:p.Tyr68Ter +PA166154179 rs41291556 PA124 CYP2C19 NC_000010.11:94775416 30 5 5 0 0 NC_000010.11:g.94775416T>C, rs41291556, NM_000769.2:c.358T>C, NP_000760.1:p.Trp120Arg, NG_008384.3:g.17736=, NG_008384.2:g.17711T>C, NP_000760.1:p.Trp120=, NC_000010.10:g.96535173=, NG_008384.3:g.17736T>C, 41291556, NC_000010.10:g.96535173T>C, NM_000769.1:c.358T>C, NC_000010.11:g.94775416= +PA166160014 rs41301394 PA33532 POR NC_000007.14:75983485 1 1 0 0 0 NG_008930.1:g.73384C>A, 59410433, NG_008930.1:g.73384=, 41301394, NC_000007.14:g.75983485=, NC_000007.14:g.75983485C>A, NC_000007.13:g.75612803C>T, NC_000007.13:g.75612803=, rs41301394, NG_008930.1:g.73384C>T, NC_000007.14:g.75983485C>T, NC_000007.13:g.75612803C>A +PA166157490 rs41303343 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99652772 28 7 6 0 0 XP_011514145.1:p.Thr233Tyrfs, XP_011514147.1:p.Thr166Tyrfs, XM_011515845.1:c.495_496insT, NR_033807.2:n.2769_2770insT, NM_001291829.1:c.696_697insT, XP_005250227.1:p.Thr233Tyrfs, NG_007938.1:g.32228dup, XP_005250230.1:p.Thr166Tyrfs, NC_000007.14:g.99652771=, rs371634789, NR_033809.1:n.1397_1398insT, XM_005250173.1:c.495_496insT, NG_007938.1:g.32228_32229insT, NC_000007.14:g.99652771dup, rs146933882, 371634789, NM_001291830.1:c.1005_1006insT, XP_005250226.1:p.Thr336Tyrfs, XM_011515843.1:c.696_697insT, XP_011514149.1:p.Thr166Tyrfs, 57622522, XM_005250170.1:c.696_697insT, NC_000007.13:g.99250394=, XM_011515846.1:c.495_496insT, rs41303343, XP_005250228.1:p.Thr233Tyrfs, XR_927402.1:n.1466+28590_1466+28591insA, NC_000007.13:g.99250393_99250394insA, NP_001278758.1:p.Thr233Tyrfs, NM_000777.4:c.1035_1036insT, XM_011515909.1:c.806-16325_806-16324insA, NG_007938.1:g.32228=, NP_000768.1:p.Thr346fs, NC_000007.14:g.99652770_99652771insA, XP_011514148.1:p.Thr166Tyrfs, XM_005250171.1:c.696_697insT, XM_011515844.1:c.696_697insT, NP_000768.1:p.Thr346Tyrfs, XM_005250169.1:c.1005_1006insT, NP_001278759.1:p.Thr336Tyrfs, XM_005250172.1:c.696_697insT, NC_000007.13:g.99250394dup, rs57622522, 41303343, XP_011514146.1:p.Thr233Tyrfs, XM_011515847.1:c.495_496insT, NP_000768.1:p.Pro345=, NR_033808.1:n.1637_1638insT, NG_007938.2:g.32228dup, XP_005250229.1:p.Thr233Tyrfs, XM_005250198.1:c.806-24434_806-24433insA, 146933882, NG_007938.2:g.32228= +PA166160901 rs41309171 PA145 DPYD NC_000001.11:97740602 1 0 0 0 0 NC_000001.10:g.98206158=, NC_000001.10:g.98206158C>G, NC_000001.11:g.97740602C>G, 41309171, NG_008807.2:g.185458=, NC_000001.11:g.97740602=, rs41309171, NG_008807.2:g.185458G>C +PA166156469 rs41313691 PA304 SCN5A NC_000003.12:38604031 1 0 0 0 0 NP_001092875.1:p.Ser524Tyr, XP_011532293.1:p.Ser524Tyr, NC_000003.12:g.38604031G>T, rs41313691, NP_001153633.1:p.Ser524Tyr, NG_008934.1:g.50642C>A, NM_000335.4:c.1571C>A, NP_000326.2:p.Ser524=, NP_932173.1:p.Ser524Tyr, NC_000003.12:g.38604031=, XM_011533991.1:c.1571C>A, XM_006713282.2:c.1571C>A, NC_000003.11:g.38645522=, NM_001099405.1:c.1571C>A, NM_001160161.1:c.1571C>A, NP_001153632.1:p.Ser524Tyr, 61737820, NP_001092874.1:p.Ser524Tyr, NM_001099404.1:c.1571C>A, NM_001160160.1:c.1571C>A, XP_006713345.1:p.Ser524Tyr, NM_198056.2:c.1571C>A, XM_011533992.1:c.1442C>A, NC_000003.11:g.38645522G>T, rs61737820, NP_000326.2:p.Ser524Tyr, XP_011532294.1:p.Ser481Tyr, 41313691, NG_008934.1:g.50642= +PA166156470 rs41315493 PA304 SCN5A NC_000003.12:38550521 1 0 0 0 0 NM_198056.2:c.5851G>T, XM_011533991.1:c.5848G>T, rs41315493, NM_001099404.1:c.5851G>T, XM_006713282.2:c.5851G>A, NM_000335.4:c.5848G>T, NP_000326.2:p.Val1950Leu, NP_000326.2:p.Val1950Met, NP_001153632.1:p.Val1918Leu, NP_001153632.1:p.Val1918Met, NC_000003.12:g.38550521=, NM_001099404.1:c.5851G>A, NC_000003.11:g.38592012=, XM_006713282.2:c.5851G>T, XM_011533991.1:c.5848G>A, NC_000003.11:g.38592012C>T, NM_198056.2:c.5851G>A, NG_008934.1:g.104152G>T, NM_001160161.1:c.5689G>A, NC_000003.12:g.38550521C>A, XP_011532293.1:p.Val1950Leu, XP_011532293.1:p.Val1950Met, XP_006713345.1:p.Val1951Leu, XP_006713345.1:p.Val1951Met, NM_000335.4:c.5848G>A, NP_001092874.1:p.Val1951Leu, NP_001092874.1:p.Val1951Met, NM_001160160.1:c.5752G>A, NP_000326.2:p.Val1950=, NP_932173.1:p.Val1951Leu, NP_932173.1:p.Val1951Met, NP_001153633.1:p.Val1897Leu, NP_001153633.1:p.Val1897Met, NM_001160160.1:c.5752G>T, NM_001160161.1:c.5689G>T, NG_008934.1:g.104152G>A, NM_001099405.1:c.5797G>T, NP_001092875.1:p.Val1933Leu, NP_001092875.1:p.Val1933Met, XM_011533992.1:c.5722G>A, NG_008934.1:g.104152=, 41315493, NC_000003.12:g.38550521C>T, NM_001099405.1:c.5797G>A, NC_000003.11:g.38592012C>A, XM_011533992.1:c.5722G>T, XP_011532294.1:p.Val1908Leu, XP_011532294.1:p.Val1908Met +PA166154046 rs4132670 PA36394 TCF7L2 NC_000010.11:113008012 1 1 0 0 0 XM_005270073.1:c.451-32013G>A, NM_001146283.1:c.382-32013G>A, XM_011540114.1:c.451-32013G>A, 59221588, NM_001198530.1:c.381+56405G>A, XM_005270087.1:c.382-32013G>A, NC_000010.10:g.114767771=, XM_005270100.1:c.451-32013G>A, NG_012631.1:g.62763G>A, XM_011540115.1:c.451-32013G>A, XM_005270082.1:c.451-32013G>A, XM_005270072.1:c.451-32013G>A, XM_011540113.1:c.451-32013G>A, XM_006717956.2:c.-9-32013G>A, XM_005270104.1:c.382-32013G>A, XM_011540110.1:c.382-32013G>A, XM_005270086.1:c.382-32013G>A, 57679207, XM_005270091.2:c.451-32013G>A, rs17130174, 386591207, XM_011540112.1:c.451-32013G>A, XM_005270075.1:c.451-32013G>A, NM_001146286.1:c.382-32013G>A, XM_011540117.1:c.451-32013G>A, NG_012631.1:g.62763=, XM_011540111.1:c.382-32013G>A, XM_005270089.1:c.382-32013G>A, XM_005270103.1:c.382-32013G>A, NC_000010.10:g.114767771G>A, XM_005270102.1:c.451-32013G>A, XM_005270091.1:c.451-32013G>A, NM_001146284.1:c.382-32013G>A, NM_001198527.1:c.382-32013G>A, rs59221588, 4132670, NC_000010.11:g.113008012G>A, XM_005270096.1:c.451-32013G>A, XM_005270083.1:c.451-32013G>A, 56521639, NM_001198528.1:c.382-32013G>A, NM_001198531.1:c.451-32013G>A, XM_005270078.1:c.451-32013G>A, XM_005270101.1:c.382-32013G>A, NM_001146274.1:c.451-32013G>A, XM_005270081.1:c.382-32013G>A, XM_005270095.1:c.451-32013G>A, NM_030756.4:c.382-32013G>A, rs57679207, NC_000010.11:g.113008012=, XM_011540119.1:c.451-32013G>A, XM_005270085.1:c.451-32013G>A, NM_001198529.1:c.382-32013G>A, XM_005270093.1:c.451-32013G>A, XM_005270077.1:c.451-32013G>A, XM_005270094.1:c.451-32013G>A, XM_011540109.1:c.451-32013G>A, XM_011540118.1:c.451-32013G>A, XM_005270092.1:c.451-32013G>A, rs56521639, NM_001198525.1:c.382-32013G>A, NM_001198526.1:c.382-32013G>A, XM_005270076.1:c.451-32013G>A, rs386591207, XM_005270071.1:c.451-32013G>A, XM_005270084.1:c.451-32013G>A, XM_005270079.1:c.451-32013G>A, XM_005270090.1:c.381+56405G>A, XM_005270080.1:c.382-32013G>A, XM_005270074.1:c.451-32013G>A, 17130174, rs4132670, XM_011540116.1:c.451-32013G>A, NM_001146285.1:c.382-32013G>A, XM_005270088.1:c.382-32013G>A +PA166156824 rs4133101 PA289 PTGER4 NC_000005.10:40679465 1 1 0 0 0 NC_000005.10:g.40679465=, rs17671182, NC_000005.9:g.40679567T>C, NC_000005.9:g.40679567T>A, XM_005248327.2:c.-1057T>C, NM_000958.2:c.-1057T>C, XM_005248326.1:c.-1529T>C, XR_925635.1:n.-33T>C, 17671182, XM_005248327.1:c.-1529T>C, XR_241709.1:n.-1486T>C, NC_000005.9:g.40679567=, NG_047000.1:g.4968=, XM_011514071.1:c.-1057T>C, XR_925943.1:n.25A>G, XM_011514070.1:c.-1057T>C, NC_000005.10:g.40679465T>C, NG_047000.1:g.4968T>A, NC_000005.10:g.40679465T>A, NG_047000.1:g.4968T>C, 57352811, XM_005248326.3:c.-1057T>C, rs57352811, rs4133101, 4133101 +PA166156389 rs4135247 PA281 PPARG NC_000003.12:12355089 1 0 0 0 0 XM_011533842.1:c.82+3415G>A, rs17817246, NC_000003.12:g.12355089G>A, XM_011533841.1:c.-2-24615G>A, NC_000003.11:g.12396588G>T, NM_015869.4:c.82+3415G>A, rs17247494, NM_005037.5:c.-2-24615G>A, NG_011749.1:g.72240=, NG_011749.1:g.72240G>T, XM_011533840.1:c.-2-24615G>A, XM_011533843.1:c.82+3415G>A, NC_000003.11:g.12396588=, NM_138712.3:c.-2-24615G>A, 17817246, NC_000003.12:g.12355089G>T, XM_011533844.1:c.-2-24615G>A, 17247494, NC_000003.11:g.12396588G>A, NG_011749.1:g.72240G>A, NM_138711.3:c.-2-24615G>A, rs4135247, NC_000003.12:g.12355089=, 4135247 +PA166156390 rs4135256 PA281 PPARG NC_000003.12:12368029 1 0 0 0 0 rs17241583, XM_011533843.1:c.83-11675A>G, NC_000003.11:g.12409528=, NM_005037.5:c.-2-11675A>G, NG_011749.1:g.85180=, NM_138712.3:c.-2-11675A>G, XM_011533842.1:c.83-11675A>G, NC_000003.12:g.12368029A>G, 17241583, XM_011533840.1:c.-2-11675A>G, rs4135256, NG_011749.1:g.85180A>G, NC_000003.12:g.12368029=, NC_000003.11:g.12409528A>G, 4135256, NM_138711.3:c.-2-11675A>G, XM_011533841.1:c.-2-11675A>G, NM_015869.4:c.83-11675A>G, XM_011533844.1:c.-2-11675A>G +PA166156391 rs4135258 PA281 PPARG NC_000003.12:12377097 1 0 0 0 0 NG_011749.1:g.94248C>T, NM_005037.5:c.-2-2607C>T, NM_138711.3:c.-2-2607C>T, XM_011533843.1:c.83-2607C>T, rs17247571, NC_000003.12:g.12377097=, XM_011533841.1:c.-2-2607C>T, NG_011749.1:g.94248=, NM_138712.3:c.-2-2607C>T, NC_000003.11:g.12418596C>T, NM_015869.4:c.83-2607C>T, XM_011533840.1:c.-2-2607C>T, 17247571, NC_000003.12:g.12377097C>T, NC_000003.11:g.12418596=, rs4135258, XM_011533842.1:c.83-2607C>T, XM_011533844.1:c.-2-2607C>T, 4135258 +PA166156392 rs4135268 PA281 PPARG NC_000003.12:12395738 1 0 0 0 0 XM_011533844.1:c.535+2986C>G, NM_005037.5:c.535+2986C>G, rs17247655, NC_000003.12:g.12395738C>G, XM_011533840.1:c.535+2986C>G, NC_000003.11:g.12437237=, rs56630764, rs17818032, NC_000003.12:g.12395738=, XM_011533841.1:c.535+2986C>G, XM_011533843.1:c.619+2986C>G, NC_000003.11:g.12437237C>G, NM_138711.3:c.535+2986C>G, NM_015869.4:c.619+2986C>G, NG_011749.1:g.112889=, XM_011533842.1:c.619+2986C>G, NG_011749.1:g.112889C>G, 17818032, 56630764, NM_138712.3:c.535+2986C>G, 4135268, rs4135268, 17247655 +PA166156393 rs4135275 PA281 PPARG NC_000003.12:12402345 1 0 0 0 0 NG_011749.1:g.119496A>G, NM_138711.3:c.536-3537A>G, NG_011749.1:g.119496=, NC_000003.12:g.12402345=, XM_011533842.1:c.620-3537A>G, NM_138712.3:c.536-3537A>G, NC_000003.11:g.12443844=, XM_011533843.1:c.620-3537A>G, NC_000003.11:g.12443844A>G, NC_000003.12:g.12402345A>G, NM_015869.4:c.620-3537A>G, 17247718, XM_011533840.1:c.536-3537A>G, rs60750931, 4135275, rs4135275, 60750931, NM_005037.5:c.536-3537A>G, XM_011533844.1:c.536-3537A>G, rs17247718, XM_011533841.1:c.536-3537A>G +PA166156394 rs4135385 PA27013 CTNNB1 NC_000003.12:41237949 2 1 0 0 0 NG_013302.2:g.43499A>G, NM_001098209.1:c.2077-67A>G, NC_000003.12:g.41237949=, NM_001098210.1:c.2077-67A>G, XM_005264886.1:c.2077-67A>G, rs58718635, XM_005264888.1:c.2077-67A>G, XM_006712985.1:c.2076+1240A>G, NC_000003.11:g.41279440=, NC_000003.11:g.41279440A>G, XM_006712983.1:c.2056-67A>G, NC_000003.12:g.41237949A>G, NG_013302.2:g.43499=, XM_005264886.2:c.2077-67A>G, NG_013302.1:g.43499A>G, XM_006712984.1:c.2056-67A>G, 4135385, rs4135385, XM_005264887.1:c.2077-67A>G, NM_001904.3:c.2077-67A>G, 58718635 +PA166155872 rs41368446 PA28606 GCG NC_000002.12:162141603 1 0 0 0 0 NC_000002.12:g.162141603T>A, NC_000002.11:g.162998113T>G, rs41368446, NC_000002.11:g.162998113=, 41368446, NR_110255.1:n.93-20167T>G, NC_000002.12:g.162141603=, NC_000002.11:g.162998113T>A, rs56630190, XR_241339.1:n.93-20167T>G, NC_000002.12:g.162141603T>G, 56630190 +PA166178421 rs41412545 PA202 INSR NC_000019.10:7172515 1 1 0 0 0 NC_000019.9:g.7172526C>T, NG_008852.2:g.126486G>T, NC_000019.9:g.7172526=, NG_008852.2:g.126486G>A, NG_008852.2:g.126486=, NC_000019.10:g.7172515C>T, rs41412545, 41412545, NC_000019.10:g.7172515C>A, NC_000019.10:g.7172515=, NC_000019.9:g.7172526C>A +PA166163281 rs4141964 PA27955 FAAH NC_000001.11:46399368 2 1 0 0 0 60160524, NC_000001.11:g.46399368=, 57204967, NG_012195.1:g.10102=, 4141964, NG_012195.1:g.10102T>C, rs4141964, NC_000001.10:g.46865040=, NC_000001.11:g.46399368T>C, NC_000001.10:g.46865040T>C +PA166176627 rs41423247 PA181 NR3C1 NC_000005.10:143399010 1 0 0 0 0 NC_000005.9:g.142778575G>C, NG_009062.1:g.41503=, NC_000005.10:g.143399010=, 62375508, NC_000005.9:g.142778575=, NC_000005.10:g.143399010G>C, NG_009062.1:g.41503C>G, rs41423247, 41423247 +PA166159122 rs4147581 PA29028 GSTP1 NC_000011.10:67584114 1 0 0 0 0 NC_000011.10:g.67584114=, NC_000011.9:g.67351585C>G, NC_000011.9:g.67351585=, rs4147581, 4147581, NG_012075.1:g.5520C>G, 60712302, NG_012075.1:g.5520=, NC_000011.10:g.67584114C>G +PA166182334 rs4148155 PA390 ABCG2 NC_000004.12:88133515 1 1 0 0 0 NC_000004.12:g.88133515A>G, rs4148155, 4148155, NG_032067.2:g.102808T>C, 386591431, NC_000004.11:g.89054667=, NG_032067.2:g.102808=, 58863557, NC_000004.11:g.89054667A>G, NC_000004.12:g.88133515= +PA166156582 rs4148157 PA390 ABCG2 NC_000004.12:88099782 3 2 0 0 0 NM_001257386.1:c.1368-334C>T, XM_005263355.1:c.1368-334C>T, rs4148157, XM_005263354.1:c.1368-334C>T, 56715039, 4148157, NC_000004.12:g.88099782=, XM_005263355.2:c.1368-334C>T, NC_000004.11:g.89020934=, XM_011532420.1:c.1368-334C>T, NG_032067.2:g.136541C>T, XM_005263354.2:c.1368-334C>T, NG_032067.2:g.136541=, NM_004827.2:c.1368-334C>T, NC_000004.11:g.89020934G>A, XM_005263356.2:c.1362-334C>T, NC_000004.12:g.88099782G>A, rs56715039, XM_005263356.1:c.1362-334C>T +PA166156583 rs4148269 PA37188 UGT2B15 NC_000004.12:68647129 1 0 0 0 0 58929745, rs148447518, rs62299484, NC_000004.11:g.69512847T>G, NG_052676.1:g.28648A>C, rs4148269, NT_167250.2:g.223498T>G, NP_001067.2:p.Lys523=, 4148269, rs138015312, NM_001076.3:c.1568A>C, 138015312, NC_000004.12:g.68647129=, NT_167250.1:g.225448T>G, rs58929745, NC_000004.11:g.69512847=, NG_052676.1:g.28648=, NP_001067.2:p.Lys523Thr, 62299484, NC_000004.12:g.68647129T>G, 148447518 +PA166155721 rs4148323 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233760498 115 10 7 0 1 XR_241240.1:n.1023-6536G>A, XR_241239.1:n.233G>A, NP_000454.1:p.Gly71=, rs4148323, 4148323, NM_019076.4:c.856-6536G>A, NG_033238.1:g.5226G>A, XR_241238.1:n.924-6536G>A, NP_000454.1:p.Gly71Arg, NC_000002.11:g.234669144G>A, NM_019075.2:c.856-6536G>A, NG_033238.1:g.5226=, NM_007120.2:c.868-6536G>A, XR_241241.1:n.942-6536G>A, NC_000002.12:g.233760498G>A, NM_021027.2:c.856-6536G>A, NM_001072.3:c.862-6536G>A, NM_019093.2:c.868-6536G>A, rs113525835, NM_000463.2:c.211G>A, NG_002601.2:g.175755G>A, rs58105808, NG_002601.2:g.175755=, rs58585123, rs34360183, 113525835, NM_205862.1:c.61-6536G>A, NC_000002.12:g.233760498=, 34360183, NM_019077.2:c.856-6536G>A, NM_019078.1:c.868-6536G>A, 58585123, 58105808, NC_000002.11:g.234669144= +PA166181287 rs4148324 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233764076 2 1 0 0 0 NC_000002.11:g.234672722T>G, NG_033238.1:g.8804=, NG_033238.1:g.8804T>G, NC_000002.11:g.234672722=, NC_000002.12:g.233764076=, 34270683, 58090988, rs4148324, NG_033238.1:g.8804T>A, 4148324, NG_002601.2:g.179333=, NG_002601.2:g.179333T>G, NC_000002.12:g.233764076T>A, NG_002601.2:g.179333T>A, NC_000002.12:g.233764076T>G, NC_000002.11:g.234672722T>A +PA166357181 rs4148325 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233764663 1 0 0 0 0 NC_000002.12:g.233764663=, NC_000002.11:g.234673309=, NG_033238.1:g.9391C>T, 58646843, 35543020, NC_000002.11:g.234673309C>T, NC_000002.12:g.233764663C>T, NG_002601.2:g.179920=, rs4148325, 4148325, NG_002601.2:g.179920C>T, NG_033238.1:g.9391= +PA166181288 rs4148326 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233764816 1 0 0 0 0 NG_002601.2:g.180073T>A, 61598698, NG_033238.1:g.9544T>A, NC_000002.11:g.234673462=, NC_000002.11:g.234673462T>C, NG_033238.1:g.9544T>C, NG_002601.2:g.180073T>C, NG_033238.1:g.9544=, NC_000002.11:g.234673462T>A, rs4148326, NC_000002.12:g.233764816=, 4148326, 35371792, NC_000002.12:g.233764816T>A, NG_002601.2:g.180073=, NC_000002.12:g.233764816T>C +PA166181289 rs4148328 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233769013 1 0 0 0 0 4148328, 35338849, NC_000002.11:g.234677659=, NG_033238.1:g.13741=, NG_002601.2:g.184270=, 59820056, NC_000002.12:g.233769013C>T, NG_002601.2:g.184270C>T, NC_000002.11:g.234677659C>T, NG_033238.1:g.13741C>T, rs4148328, NC_000002.12:g.233769013= +PA166203147 rs4148333 PA244 ABCC1 NC_000016.10:15959872 1 0 0 0 0 NC_000016.10:g.15959872=, NG_028268.2:g.15296C>T, 52830004, 56984516, NG_028268.1:g.15296=, rs4148333, NG_028268.2:g.15296=, 4148333, NC_000016.9:g.16053729=, NC_000016.10:g.15959872C>T, NG_028268.1:g.15296C>T, NC_000016.9:g.16053729C>T +PA166155060 rs4148350 PA244 ABCC1 NC_000016.10:16076620 4 1 0 0 0 rs587779726, NG_028268.2:g.132044G>T, NC_000016.10:g.16076620G>T, XM_005255327.1:c.1862+219G>T, XM_005255329.1:c.1988+219G>T, XM_011522497.1:c.1964+219G>T, NC_000016.9:g.16170477=, NC_000016.9:g.16170477G>T, NM_004996.3:c.1988+219G>T, XM_005255328.1:c.1850+219G>T, rs60127316, 587779726, NT_187607.1:g.1734472G>T, rs4148350, XM_005255326.1:c.1988+219G>T, 4148350, NC_000016.10:g.16076620=, NG_028268.2:g.132044=, NG_028268.1:g.132044=, NG_028268.1:g.132044G>T, XM_011522498.1:c.1895+219G>T, 60127316 +PA166155061 rs4148354 PA244 ABCC1 NC_000016.10:16080649 1 0 0 0 0 58159089, XM_011522497.1:c.2091+1171G>A, XM_005255329.1:c.2115+1171G>A, rs4148354, NC_000016.9:g.16174506G>A, NM_004996.3:c.2115+1171G>A, 4148354, NG_028268.1:g.136073G>T, NG_028268.2:g.136073G>T, NC_000016.10:g.16080649=, NC_000016.9:g.16174506=, rs58159089, NC_000016.10:g.16080649G>T, XM_005255326.1:c.2115+1171G>A, XM_011522498.1:c.2022+1171G>A, NG_028268.2:g.136073=, NG_028268.1:g.136073G>A, NG_028268.1:g.136073=, NC_000016.10:g.16080649G>A, XM_005255327.1:c.1989+1171G>A, NC_000016.9:g.16174506G>T, NG_028268.2:g.136073G>A, XM_005255328.1:c.1977+1171G>A, NT_187607.1:g.1738501G>A +PA166155062 rs4148356 PA244 ABCC1 NC_000016.10:16083418 1 0 0 0 0 NC_000016.10:g.16083418G>A, NC_000016.9:g.16177275=, rs60989413, 60989413, NP_004987.2:p.Arg723=, 587779731, NC_000016.9:g.16177275G>A, NG_028268.2:g.138842=, 52805887, NP_004987.2:p.Arg723Gln, XM_005255329.1:c.2116-3406G>A, rs587779731, NG_028268.1:g.138842G>A, XP_005255384.1:p.Arg681Gln, XM_005255327.1:c.2042G>A, NG_028268.2:g.138842G>A, XP_011520800.1:p.Arg692Gln, XM_005255326.1:c.2168G>A, NM_004996.3:c.2168G>A, XM_011522498.1:c.2075G>A, XM_005255328.1:c.2030G>A, rs4148356, XP_005255385.1:p.Arg677Gln, 4148356, rs52805887, NT_187607.1:g.1741275G>A, XM_011522497.1:c.2144G>A, NG_028268.1:g.138842=, NC_000016.10:g.16083418=, XP_005255383.1:p.Arg723Gln, XP_011520799.1:p.Arg715Gln +PA166154047 rs4148386 PA116 ABCC2 NC_000010.11:99788711 1 1 0 0 0 NG_004102.3:g.804=, NC_000010.10:g.101548468G>A, rs57021066, XM_011539291.1:c.208-3523G>A, NC_000010.11:g.99788711=, XM_005269536.1:c.208-3523G>A, 4148386, NG_011798.2:g.11114=, NG_011798.2:g.11114G>A, NG_011798.1:g.11006G>A, NC_000010.11:g.99788711G>A, NG_011798.1:g.11006=, rs4148386, XR_945604.1:n.397-3523G>A, 57021066, NG_004102.3:g.804C>T, NM_000392.4:c.208-3523G>A, NC_000010.10:g.101548468=, XR_945605.1:n.399-3523G>A, XM_006717631.2:c.208-3523G>A +PA166154048 rs4148396 PA116 ABCC2 NC_000010.11:99832187 3 0 0 0 0 XM_005269536.1:c.2979+56T>C, NC_000010.10:g.101591944=, NM_000392.4:c.3258+56T>C, 17495225, NC_000010.11:g.99832187=, NG_011798.1:g.54482=, NG_011798.1:g.54482T>C, XM_011539291.1:c.*573T>C, rs17495225, rs4148396, 4148396, NG_011798.2:g.54590=, NC_000010.10:g.101591944T>C, XR_945605.1:n.3449+56T>C, NG_011798.2:g.54590T>C, NC_000010.11:g.99832187T>C, XR_945604.1:n.3447+56T>C, XM_006717630.2:c.2562+56T>C +PA166181272 rs4148398 PA116 ABCC2 NC_000010.11:99832865 1 0 0 0 0 NG_011798.2:g.55268A>G, 60574595, NC_000010.10:g.101592622A>G, rs4148398, 4148398, NG_011798.2:g.55268=, 74232649, NC_000010.10:g.101592622=, NG_011798.1:g.55160A>G, NC_000010.11:g.99832865A>G, NG_011798.1:g.55160=, NC_000010.11:g.99832865= +PA166155218 rs4148405 PA376 ABCC3 NC_000017.11:50636207 2 0 0 0 0 4148405, NC_000017.10:g.48713568T>G, NM_001144070.1:c.45+1226T>G, XM_005257763.2:c.45+1226T>G, NC_000017.11:g.50636207=, XR_934586.1:n.138+1226T>G, XM_011525422.1:c.45+1226T>G, XM_005257763.1:c.45+1226T>G, rs4148405, NM_003786.3:c.45+1226T>G, NC_000017.11:g.50636207T>G, XM_011525423.1:c.45+1226T>G, NC_000017.10:g.48713568= +PA166181403 rs4148412 PA376 ABCC3 NC_000017.11:50656454 2 0 0 0 0 NC_000017.11:g.50656454=, 386591448, NC_000017.10:g.48733815T>C, NC_000017.11:g.50656454T>A, NC_000017.10:g.48733815T>A, NC_000017.11:g.50656454T>C, NC_000017.10:g.48733815=, rs4148412, 4148412, 17642761, 58253531, NC_000017.11:g.50656454T>G, NC_000017.10:g.48733815T>G +PA166203155 rs4148415 PA376 ABCC3 NC_000017.11:50675239 1 0 0 0 0 NC_000017.10:g.48752600=, NC_000017.10:g.48752600C>G, NC_000017.11:g.50675239=, NC_000017.11:g.50675239C>T, NC_000017.11:g.50675239C>G, NC_000017.10:g.48752600C>T, rs4148415, 4148415 +PA166155219 rs4148416 PA376 ABCC3 NC_000017.11:50676062 3 1 0 0 0 4148416, XM_011525423.1:c.3144C>T, XP_011523725.1:p.Gly1048=, NC_000017.11:g.50676062=, XP_011523727.1:p.Gly771=, XR_934586.1:n.3237C>T, XM_011525425.1:c.2313C>T, XP_011523724.1:p.Gly984=, XP_011523726.1:p.Gly788=, NP_003777.2:p.Gly1013=, rs4148416, NC_000017.11:g.50676062C>T, XP_005257820.1:p.Gly949=, NM_003786.3:c.3039C>T, NC_000017.10:g.48753423=, XM_005257763.2:c.2847C>T, NC_000017.10:g.48753423C>T, XM_011525424.1:c.2364C>T, XM_011525422.1:c.2952C>T, XM_005257763.1:c.2847C>T +PA166203145 rs4148472 PA397 ABCC4 NC_000013.11:95210619 1 0 0 0 0 NG_050651.1:g.95828C>T, rs4148472, 4148472, NC_000013.10:g.95862873G>A, NC_000013.11:g.95210619=, 57264086, NC_000013.11:g.95210619G>A, NG_050651.1:g.95828=, NC_000013.10:g.95862873= +PA166156395 rs4148557 PA395 ABCC5 NC_000003.12:184015996 1 0 0 0 0 NR_135125.1:n.132-1549T>C, 60537809, XM_005247059.1:c.-56+1355T>C, XM_005247062.1:c.-1832T>C, XM_011512316.1:c.-3135T>C, XM_005247058.3:c.-493T>C, NC_000003.11:g.183733784=, XM_005247061.1:c.-55-1549T>C, XM_011512315.1:c.-55-1549T>C, NC_000003.12:g.184015996A>G, NM_001023587.2:c.-55-1549T>C, NG_047115.1:g.7015=, XM_011512314.1:c.-56+1315T>C, XM_005247060.1:c.-301T>C, NC_000003.12:g.184015996A>T, NC_000003.11:g.183733784A>G, NM_001320032.1:c.-1586-1549T>C, NC_000003.11:g.183733784A>T, rs4148557, 4148557, NM_005688.3:c.-55-1549T>C, XM_005247059.3:c.-56+1355T>C, NC_000003.12:g.184015996=, rs60537809, NG_047115.1:g.7015T>A, NG_047115.1:g.7015T>C, XM_005247058.1:c.-493T>C +PA166156396 rs4148572 PA395 ABCC5 NC_000003.12:184002711 1 0 0 0 0 NC_000003.12:g.184002711C>A, XM_005247058.1:c.129+11553G>C, rs60068550, NG_047115.1:g.20300G>T, NC_000003.11:g.183720499=, NM_005688.3:c.129+11553G>C, NC_000003.12:g.184002711C>G, XM_005247062.1:c.-1403+11553G>C, NG_047115.1:g.20300=, NG_047115.1:g.20300G>C, NC_000003.12:g.184002711=, XM_005247059.3:c.129+11553G>C, NC_000003.11:g.183720499C>A, XM_011512315.1:c.129+11553G>C, XM_005247061.1:c.129+11553G>C, NM_001320032.1:c.-1403+11553G>C, XM_011512314.1:c.129+11553G>C, NC_000003.11:g.183720499C>G, NR_135125.1:n.315+11553G>C, XM_005247058.3:c.129+11553G>C, NM_001023587.2:c.129+11553G>C, XM_005247060.1:c.129+11553G>C, XM_005247059.1:c.129+11553G>C, rs4148572, 4148572, XM_011512316.1:c.-1403+11553G>C, 60068550 +PA166157385 rs4148737 PA267 ABCB1 NC_000007.14:87541836 5 1 0 0 0 rs4148737, 4148737, NC_000007.14:g.87541836=, rs386591482, rs60838665, NM_000927.4:c.2212-372A>G, NG_011513.1:g.176413A>G, NC_000007.14:g.87541836T>A, NG_011513.1:g.176413=, 386591482, NC_000007.13:g.87171152=, 60838665, NC_000007.13:g.87171152T>A, NC_000007.14:g.87541836T>C, NC_000007.13:g.87171152T>C, NG_011513.1:g.176413A>T +PA166159110 rs4148738 PA267 ABCB1 NC_000007.14:87533733 12 2 0 0 0 rs4148738, 4148738, NC_000007.14:g.87533733=, 17210646, NG_011513.1:g.184516G>A, NC_000007.13:g.87163049=, NC_000007.14:g.87533733C>T, NC_000007.13:g.87163049C>A, 10375171, 57396505, NG_011513.1:g.184516=, NG_011513.1:g.184516G>T, NC_000007.14:g.87533733C>A, 61222826, NC_000007.13:g.87163049C>T +PA166157386 rs4148739 PA267 ABCB1 NC_000007.14:87531733 3 2 0 0 0 rs4148739, NM_000927.4:c.2482-236A>G, NG_011513.1:g.186516=, rs10381901, 4148739, 117890992, NC_000007.13:g.87161049T>C, rs117890992, NC_000007.13:g.87161049=, 10381901, NC_000007.14:g.87531733T>C, NC_000007.14:g.87531733=, NG_011513.1:g.186516A>G +PA166157387 rs4148740 PA267 ABCB1 NC_000007.14:87522787 2 2 0 0 0 NG_011513.1:g.195462=, NC_000007.13:g.87152103A>G, 10380430, NC_000007.14:g.87522787A>G, NC_000007.14:g.87522787=, rs4148740, 4148740, NC_000007.13:g.87152103=, NG_011513.1:g.195462T>C, NM_000927.4:c.2686-1911T>C, rs10380430 +PA166159625 rs4148776 PA374 ABCB11 NC_000002.12:169014372 1 0 0 0 0 NC_000002.11:g.169870882A>G, NG_007374.2:g.22025=, NG_007374.1:g.21952=, NC_000002.12:g.169014372A>G, NG_007374.2:g.22025T>C, 60681280, NC_000002.11:g.169870882=, rs4148776, 4148776, NC_000002.12:g.169014372=, NG_007374.1:g.21952T>C +PA166155723 rs4148777 PA374 ABCB11 NC_000002.12:169013391 1 0 0 0 0 NM_003742.2:c.270T>C, NG_007374.2:g.23006T>C, XM_011512077.1:c.372T>C, NC_000002.11:g.169869901=, NG_007374.2:g.23006=, 56641271, NC_000002.11:g.169869901A>G, XM_011512078.1:c.372T>C, XP_011510379.1:p.Phe124=, rs11565856, XP_006712880.1:p.Phe104=, NC_000002.12:g.169013391=, XM_011512080.1:c.372T>C, rs56641271, NG_007374.1:g.22933=, XM_006712817.2:c.312T>C, rs386591488, 386591488, NC_000002.12:g.169013391A>G, NG_007374.1:g.22933T>C, 11565856, rs58888911, rs4148777, XM_011512079.1:c.372T>C, 4148777, NP_003733.2:p.Phe90=, XP_011510380.1:p.Phe124=, XP_011510381.1:p.Phe124=, XP_011510382.1:p.Phe124=, 58888911 +PA166157388 rs4148808 PA268 ABCB4 NC_000007.14:87476479 2 1 0 0 0 XM_011516313.1:c.-715A>G, 59666582, rs386591494, rs4148808, 4148808, NG_007118.2:g.8954A>G, XM_011516310.1:c.-715A>G, XM_011516308.1:c.-715A>G, XM_011516309.1:c.-715A>G, 386591494, XM_011516311.1:c.-715A>G, XM_011516312.1:c.-715A>G, NC_000007.13:g.87105795T>C, rs59666582, NM_000443.3:c.-852A>G, NC_000007.14:g.87476479T>C, NC_000007.13:g.87105795=, XM_011516314.1:c.-332A>G, NG_007118.1:g.8954A>G, NM_018850.2:c.-852A>G, NG_007118.2:g.8954=, NC_000007.14:g.87476479=, NG_007118.1:g.8954=, NM_018849.2:c.-852A>G, XR_927478.1:n.-619A>G +PA166154570 rs4148866 PA24391 ABCB9 NC_000012.12:122941028 1 0 0 0 0 NM_019624.3:c.1252-33G>A, XM_011538098.1:c.727-33G>A, NC_000012.12:g.122941028C>T, NM_203444.3:c.1381-33G>A, NM_001243014.1:c.1381-33G>A, XM_011538097.1:c.1381-33G>A, rs4148866, NC_000012.11:g.123425575C>T, 4148866, 17498531, NM_001243013.1:c.1381-744G>A, XM_011538096.1:c.1381-33G>A, XM_005253558.1:c.727-33G>A, XM_011538099.1:c.727-744G>A, XR_429086.2:n.1655-33G>A, XR_944513.1:n.1655-33G>A, XM_011538095.1:c.1381-33G>A, NC_000012.12:g.122941028=, NC_000012.11:g.123425575C>A, NC_000012.12:g.122941028C>A, NC_000012.11:g.123425575=, XM_005253559.1:c.727-744G>A, NM_019625.3:c.1381-33G>A, NC_000012.12:g.122941028C>G, NC_000012.11:g.123425575C>G, rs17498531 +PA166154049 rs4148943 PA26503 CHST3 NC_000010.11:72009749 1 1 0 0 0 NC_000010.11:g.72009749C>T, 60633426, XM_011540369.1:c.*1278C>T, NC_000010.11:g.72009749=, rs4148943, 4148943, NC_000010.10:g.73769507C>T, NG_012635.1:g.50388C>T, rs60633426, NM_004273.4:c.*1278C>T, NC_000010.10:g.73769507=, NG_012635.1:g.50388=, XM_006718075.2:c.*1278C>T +PA166154050 rs4148945 PA26503 CHST3 NC_000010.11:72009832 2 1 0 0 0 rs4148945, 4148945, NC_000010.10:g.73769590C>T, NC_000010.11:g.72009832C>T, XM_006718075.2:c.*1361C>T, NC_000010.10:g.73769590=, NC_000010.11:g.72009832=, rs60773476, NG_012635.1:g.50471=, NG_012635.1:g.50471C>T, XM_011540369.1:c.*1361C>T, NM_004273.4:c.*1361C>T, 60773476 +PA166154051 rs4148947 PA26503 CHST3 NC_000010.11:72010359 1 1 0 0 0 rs4148947, 4148947, XM_011540369.1:c.*1888T>C, NG_012635.1:g.50998T>C, NC_000010.10:g.73770117T>C, rs61571543, XM_006718075.2:c.*1888T>C, NC_000010.10:g.73770117=, 17297474, rs17297474, NC_000010.11:g.72010359T>C, NC_000010.11:g.72010359=, NG_012635.1:g.50998=, NM_004273.4:c.*1888T>C, 61571543 +PA166154052 rs4148950 PA26503 CHST3 NC_000010.11:72011948 2 1 0 0 0 NC_000010.10:g.73771706=, NC_000010.10:g.73771706G>A, XM_006718075.2:c.*3477G>A, NC_000010.11:g.72011948=, rs4148950, 4148950, 57830379, NC_000010.11:g.72011948G>A, NG_012635.1:g.52587=, NG_012635.1:g.52587G>A, XM_011540369.1:c.*3477G>A, rs17297495, rs57830379, NM_004273.4:c.*3477G>A, 17297495 +PA166154571 rs4148977 PA328 SLCO1A2 NC_000012.12:21335814 1 0 0 0 0 4148977, NC_000012.11:g.21488748C>T, XM_011520819.1:c.-57-1110G>A, XM_011520818.1:c.-1050G>A, XM_005253474.3:c.-1045G>A, XM_005253475.1:c.-1050G>A, XM_005253474.1:c.-1045G>A, NM_134431.3:c.-62-1105G>A, NC_000012.12:g.21335814C>T, NC_000012.12:g.21335814=, NM_021094.3:c.-1167G>A, rs4148977, NC_000012.12:g.21335814C>G, NC_000012.11:g.21488748=, NC_000012.11:g.21488748C>G, XM_005253476.1:c.-57-1110G>A +PA166154572 rs4148978 PA328 SLCO1A2 NC_000012.12:21335741 3 0 0 0 0 rs4148978, XM_005253474.1:c.-972G>A, 4148978, NM_021094.3:c.-1094G>A, NC_000012.11:g.21488675=, NC_000012.12:g.21335741C>T, NC_000012.11:g.21488675C>T, NC_000012.12:g.21335741=, NM_134431.3:c.-62-1032G>A, XM_005253475.1:c.-977G>A, XM_005253474.3:c.-972G>A, XM_005253476.1:c.-57-1037G>A, XM_011520819.1:c.-57-1037G>A, XM_011520818.1:c.-977G>A +PA166154573 rs4148981 PA328 SLCO1A2 NC_000012.12:21334134 1 0 0 0 0 NC_000012.12:g.21334134C>T, NC_000012.11:g.21487068C>T, XM_005253476.1:c.60+454G>A, NC_000012.12:g.21334134=, XM_005253475.1:c.60+454G>A, 56796566, NM_134431.3:c.60+454G>A, XM_005253474.1:c.60+454G>A, rs4148981, 4148981, XM_011520819.1:c.60+454G>A, XM_011520818.1:c.60+454G>A, NM_021094.3:c.60+454G>A, XM_005253474.3:c.60+454G>A, NC_000012.11:g.21487068=, rs56796566 +PA166185460 rs4149000 PA328 SLCO1A2 NC_000012.12:21295063 1 0 0 0 0 NC_000012.12:g.21295063C>T, rs4149000, NC_000012.11:g.21447997C>T, 4149000, NC_000012.12:g.21295063=, NC_000012.11:g.21447997= +PA166252581 rs4149009 PA328 SLCO1A2 NC_000012.12:21267537 3 1 0 0 0 NC_000012.12:g.21267537=, NC_000012.12:g.21267537C>T, NC_000012.11:g.21420471C>T, NC_000012.11:g.21420471=, 61319290, rs4149009, 4149009 +PA166170661 rs4149014 PA134865839 SLCO1B1 NC_000012.12:21130019 2 0 0 0 0 57340270, NC_000012.11:g.21282953T>A, NG_011745.1:g.3826T>A, NC_000012.12:g.21130019=, NG_011745.1:g.3826=, NC_000012.12:g.21130019T>G, rs4149014, 4149014, NC_000012.11:g.21282953=, NC_000012.11:g.21282953T>G, NG_011745.1:g.3826T>G, NC_000012.12:g.21130019T>A +PA166154574 rs4149015 PA134865839 SLCO1B1 NC_000012.12:21130388 8 2 0 0 0 NC_000012.11:g.21283322G>T, NC_000012.11:g.21283322=, NG_011745.1:g.4195G>A, NG_011745.1:g.4195G>C, rs4149015, 4149015, NC_000012.12:g.21130388G>T, NG_011745.1:g.4195G>T, NM_006446.4:c.-910G>A, NC_000012.11:g.21283322G>C, NC_000012.12:g.21130388G>A, NG_011745.1:g.4195=, NC_000012.12:g.21130388G>C, NC_000012.11:g.21283322G>A, NC_000012.12:g.21130388= +PA166181283 rs4149026 PA134865839 SLCO1B1 NC_000012.12:21162481 1 0 0 0 0 NC_000012.11:g.21315415A>C, NC_000012.11:g.21315415=, NG_011745.1:g.36288A>C, NC_000012.11:g.21315415A>G, NG_011745.1:g.36288=, rs4149026, 4149026, NG_011745.1:g.36288A>G, 57661495, NC_000012.12:g.21162481A>C, NC_000012.12:g.21162481=, NC_000012.12:g.21162481A>G +PA166154575 rs4149032 PA134865839 SLCO1B1 NC_000012.12:21164857 5 2 0 0 1 NC_000012.11:g.21317791C>T, rs4149032, 4149032, NC_000012.12:g.21164857C>T, NG_011745.1:g.38664C>T, NG_011745.1:g.38664=, NM_006446.4:c.85-7793C>T, rs57192307, NC_000012.11:g.21317791=, NC_000012.12:g.21164857=, 57192307 +PA166181280 rs4149034 PA134865839 SLCO1B1 NC_000012.12:21164988 1 0 0 0 0 NC_000012.11:g.21317922G>A, NC_000012.11:g.21317922G>C, rs4149034, 4149034, NC_000012.11:g.21317922=, NG_011745.1:g.38795=, NC_000012.12:g.21164988=, NC_000012.12:g.21164988G>A, NG_011745.1:g.38795G>C, 58569699, NC_000012.12:g.21164988G>C, NG_011745.1:g.38795G>A +PA166181285 rs4149035 PA134865839 SLCO1B1 NC_000012.12:21165331 2 0 0 0 0 17388663, 57434583, NC_000012.12:g.21165331=, 4149035, NG_011745.1:g.39138T>C, NC_000012.12:g.21165331T>A, NC_000012.12:g.21165331T>C, rs4149035, NC_000012.11:g.21318265T>A, NC_000012.11:g.21318265=, NG_011745.1:g.39138=, NG_011745.1:g.39138T>A, NC_000012.11:g.21318265T>C +PA166154576 rs4149036 PA134865839 SLCO1B1 NC_000012.12:21174806 1 1 0 0 0 NC_000012.11:g.21327740C>A, NC_000012.12:g.21174806=, NG_011745.1:g.48613=, rs4149036, 4149036, NM_006446.4:c.359+97C>A, NC_000012.12:g.21174806C>A, NC_000012.11:g.21327740=, NG_011745.1:g.48613C>A +PA166154577 rs4149044 PA134865839 SLCO1B1 NC_000012.12:21177062 1 0 0 0 0 NC_000012.11:g.21329996A>T, NC_000012.12:g.21177062=, NC_000012.12:g.21177062A>T, NC_000012.11:g.21329996A>C, rs4149044, NM_006446.4:c.481+165A>T, 4149044, NG_011745.1:g.50869A>C, NG_011745.1:g.50869A>T, NC_000012.11:g.21329996=, NG_011745.1:g.50869=, NC_000012.12:g.21177062A>C +PA166154578 rs4149045 PA134865839 SLCO1B1 NC_000012.12:21177086 1 0 0 0 0 NC_000012.12:g.21177086G>A, NC_000012.12:g.21177086=, NG_011745.1:g.50893G>A, rs4149045, 4149045, NG_011745.1:g.50893=, NC_000012.11:g.21330020=, NC_000012.11:g.21330020G>A, NM_006446.4:c.481+189G>A +PA166154579 rs4149056 PA134865839 SLCO1B1 NC_000012.12:21178615 310 56 20 13 11 NP_006437.3:p.Val174Ala, NC_000012.11:g.21331549T>C, NP_006437.3:p.Val174=, rs52816141, NC_000012.11:g.21331549=, rs60037639, NC_000012.12:g.21178615T>C, NM_006446.4:c.521T>C, rs4149056, 4149056, 60037639, NG_011745.1:g.52422=, NC_000012.12:g.21178615=, NG_011745.1:g.52422T>C, 52816141 +PA166154580 rs4149057 PA134865839 SLCO1B1 NC_000012.12:21178665 3 0 0 0 0 NG_011745.1:g.52472T>C, NC_000012.11:g.21331599T>C, NC_000012.11:g.21331599=, 4149057, rs17330363, rs56556440, NP_006437.3:p.Leu191=, rs4149057, NG_011745.1:g.52472=, 56556440, NC_000012.12:g.21178665=, 17330363, NC_000012.12:g.21178665T>C, NM_006446.4:c.571T>C +PA166154581 rs4149081 PA134865839 SLCO1B1 NC_000012.12:21225087 11 4 0 1 0 NC_000012.12:g.21225087G>A, NG_011745.1:g.98894G>A, 60942524, NC_000012.11:g.21378021=, NM_006446.4:c.1865+248G>A, NG_011745.1:g.98894=, rs60942524, NC_000012.12:g.21225087=, rs4149081, NC_000012.11:g.21378021G>A, 4149081 +PA166182538 rs4149086 PA134865839 SLCO1B1 NC_000012.12:21239517 1 0 0 0 0 NG_011745.1:g.113324=, NC_000012.11:g.21392451A>G, NG_011745.1:g.113324A>G, rs4149086, 4149086, NC_000012.12:g.21239517=, NC_000012.12:g.21239517A>G, NC_000012.11:g.21392451= +PA166154582 rs4149087 PA134865839 SLCO1B1 NC_000012.12:21239628 1 0 0 0 0 rs4149087, 4149087, NC_000012.12:g.21239628=, NG_011745.1:g.113435=, NC_000012.11:g.21392562T>G, NG_011745.1:g.113435T>G, NM_006446.4:c.*439T>G, NC_000012.12:g.21239628T>G, NC_000012.11:g.21392562T>C, NG_011745.1:g.113435T>C, NC_000012.11:g.21392562=, NC_000012.12:g.21239628T>C +PA166154583 rs4149117 PA35844 SLCO1B3 NC_000012.12:20858546 28 6 0 0 0 NC_000012.11:g.21011480T>G, XM_005253347.1:c.334T>G, NC_000012.11:g.21011480T>C, rs58702833, NC_000012.12:g.20858546T>C, NG_032071.1:g.52843T>G, XP_005253404.1:p.Ser112Ala, NC_000012.12:g.20858546T>G, rs4149117, NM_019844.3:c.334T>G, 4149117, NC_000012.12:g.20858546=, rs52800447, NP_062818.1:p.Ser112=, NP_062818.1:p.Ser112Pro, 58702833, NG_032071.1:g.52843T>C, NP_062818.1:p.Ser112Ala, NC_000012.11:g.21011480=, 52800447, NG_032071.1:g.52843= +PA166154584 rs4149118 PA35844 SLCO1B3 NC_000012.12:20858647 2 0 0 0 0 rs57835468, NG_032071.1:g.52944=, 16923248, rs4149118, NC_000012.12:g.20858647=, NC_000012.12:g.20858647G>A, 4149118, NC_000012.11:g.21011581G>A, NG_032071.1:g.52944G>A, 57835468, NM_019844.3:c.359+76G>A, XM_005253347.1:c.359+76G>A, rs16923248, NC_000012.11:g.21011581= +PA166154405 rs4149170 PA388 SLC22A6 NC_000011.10:62984817 4 0 0 0 0 4149170, NM_004790.4:c.-127G>A, NM_153276.2:c.-127G>A, NC_000011.10:g.62984817=, NC_000011.9:g.62752289=, NC_000011.9:g.62752289C>T, NM_153277.2:c.-127G>A, NC_000011.10:g.62984817C>T, rs4149170, NM_153278.2:c.-127G>A +PA166157095 rs4149178 PA35848 SLC22A7 NC_000006.12:43304450 2 1 0 0 0 XM_011514608.1:c.495+1769T>C, XM_005248823.1:c.1199+206A>G, XM_011514257.1:c.1769+206A>G, 4149178, NC_000006.11:g.43272188=, XM_011514607.1:c.495+1769T>C, XM_011514258.1:c.1676+206A>G, XM_011514263.1:c.1004+206A>G, XM_011514260.1:c.1544+206A>G, XM_006714970.2:c.1601+206A>G, XM_011514261.1:c.1208+206A>G, NM_006672.3:c.1586+206A>G, rs4149178, NM_153320.2:c.1592+206A>G, XM_006714971.2:c.1595+206A>G, NC_000006.12:g.43304450=, XM_011514256.1:c.1778+206A>G, NC_000006.11:g.43272188A>G, NC_000006.12:g.43304450A>G +PA166157770 rs4149297 PA24373 ABCA1 NC_000009.12:104841823 1 0 0 0 0 XM_011518344.1:c.889-1304T>C, rs58756804, NC_000009.12:g.104841823A>G, NC_000009.12:g.104841823=, NC_000009.11:g.107604104=, XM_011518341.1:c.889-1304T>C, rs4149297, 4149297, XM_011518339.1:c.889-1304T>C, XM_005251774.1:c.814-1304T>C, XM_005251777.1:c.814-1304T>C, NG_007981.1:g.91333=, XM_011518342.1:c.451-1304T>C, 58756804, XM_005251780.1:c.814-1304T>C, XM_005251775.1:c.751-1304T>C, XM_005251778.1:c.814-1304T>C, XM_011518340.1:c.889-1304T>C, XM_005251776.1:c.634-1304T>C, NC_000009.11:g.107604104A>G, XM_005251773.1:c.814-1304T>C, NG_007981.1:g.91333T>C, NM_005502.3:c.814-1304T>C, XM_011518343.1:c.889-1304T>C, XM_005251779.1:c.-9-1304T>C +PA166154585 rs4149570 PA36609 TNFRSF1A NC_000012.12:6342424 1 1 0 0 0 rs386591551, NC_000012.11:g.6451590A>G, NG_007506.1:g.4672T>A, NC_000012.11:g.6451590A>C, rs59170581, NG_007506.1:g.4672T>G, 386591551, NG_007506.1:g.4672=, NG_007506.1:g.4672T>C, NM_001065.3:c.-610T>G, rs4149570, 4149570, 59170581, NC_000012.12:g.6342424A>T, rs36205625, rs17789388, NC_000012.12:g.6342424A>G, NC_000012.11:g.6451590=, NC_000012.12:g.6342424A>C, NC_000012.11:g.6451590A>T, XM_005253759.1:c.-610T>G, 36205625, 17789388, XM_005253758.1:c.-780T>G, NC_000012.12:g.6342424= +PA166155293 rs4149601 PA31534 NEDD4L NC_000018.10:58149559 13 2 0 0 0 XM_005266666.1:c.49-16229G>A, XM_005266668.1:c.-326G>A, NC_000018.10:g.58149559=, NP_001138441.1:p.Gln8=, XM_006722426.2:c.49-16229G>A, NM_001144969.1:c.24G>A, 57531784, NM_001144971.1:c.-404G>A, NG_029954.1:g.110182=, NM_001144967.2:c.49-16229G>A, NC_000018.9:g.55816791=, NM_001144965.1:c.-326G>A, NM_001144968.1:c.24G>A, NM_001243960.1:c.49-16229G>A, NM_015277.5:c.49-16229G>A, NG_029954.1:g.110182G>A, XM_006722428.2:c.49-16229G>A, rs4149601, XP_011524189.1:p.Gln8=, 4149601, NP_001138440.1:p.Gln8=, XM_011525887.1:c.24G>A, NM_001144964.1:c.-315-16229G>A, NC_000018.10:g.58149559G>A, NC_000018.9:g.55816791G>A, rs57531784 +PA166156017 rs41557318 PA26121,PA25814 CBR1,SETD4 NC_000021.9:36071051 1 0 0 0 0 NC_000021.9:g.36071051C>T, NP_001748.1:p.Pro131=, NM_001757.3:c.391C>T, 41557318, NP_001273718.1:p.Pro131Ser, NC_000021.8:g.37443349C>T, NC_000021.9:g.36071051=, XP_005261130.1:p.Pro131Ser, XM_005261073.1:c.391C>T, rs41557318, NR_040084.1:n.378-566G>A, NC_000021.8:g.37443349=, NP_001748.1:p.Pro131Ser, NM_001286789.1:c.391C>T +PA166264741 rs416593 NC_000004.12:68748341 1 0 0 0 0 NC_000004.12:g.68748341T>A, 416593, 12646214, 6600843, NC_000004.12:g.68748341=, NC_000004.11:g.69614059T>A, rs416593, 113351212, NC_000004.11:g.69614059= +PA166180455 rs419335 PA31942 OPRD1 NC_000001.11:28825332 1 0 0 0 0 419335, rs419335, NC_000001.11:g.28825332A>G, 61359345, NC_000001.10:g.29151844A>G, NC_000001.10:g.29151844=, NC_000001.11:g.28825332=, 17362564 +PA166233162 rs419598 PA29816 IL1RN NC_000002.12:113129630 1 0 0 0 0 17559702, rs419598, 1050888, NC_000002.11:g.113887207T>C, 2229235, NG_021240.1:g.16738=, 17850546, 17860495, NC_000002.12:g.113129630=, NG_021240.1:g.16738T>C, 419598, NC_000002.12:g.113129630T>C, NC_000002.11:g.113887207=, NP_000568.1:p.Ala39=, 56823239 +PA166235575 rs421300 PA31942 OPRD1 NC_000001.11:28843081 1 0 0 0 0 NC_000001.10:g.29169593A>G, NC_000001.11:g.28843081=, 421300, NC_000001.10:g.29169593=, rs421300, 3766950, NC_000001.11:g.28843081A>C, NC_000001.10:g.29169593A>C, NC_000001.11:g.28843081A>G +PA166177713 rs4234955 PA258,PA31742 NPY1R,NPY5R NC_000004.12:163339124 1 0 0 0 0 17656082, NC_000004.11:g.164260276G>A, 56661110, rs4234955, 4234955, NC_000004.11:g.164260276=, NC_000004.12:g.163339124=, NC_000004.12:g.163339124G>A, NC_000004.12:g.163339124G>C, NC_000004.11:g.164260276G>C +PA166180069 rs4235108 NC_000004.12:69028136 2 0 0 0 0 56951624, NC_000004.12:g.69028136=, NC_000004.11:g.69893854G>A, NG_001280.4:g.449G>A, NG_001280.4:g.449=, 4235108, rs4235108, NG_001280.3:g.452G>A, 17147111, NC_000004.12:g.69028136G>A, NG_001280.3:g.452=, NC_000004.11:g.69893854= +PA166160119 rs4236406 PA38657 GLCCI1 NC_000007.14:8074121 1 0 0 0 0 NC_000007.14:g.8074121=, NC_000007.14:g.8074121T>C, NC_000007.13:g.8113751T>C, NG_032073.1:g.110378=, NG_032073.1:g.110378T>C, rs4236406, 10362901, 4236406, NC_000007.13:g.8113751=, 56905931, 17329684 +PA166157389 rs4236420 NC_000007.14:9648479 1 0 0 0 0 NC_000007.14:g.9648479A>T, NC_000007.13:g.9688109=, NC_000007.14:g.9648479A>G, NC_000007.13:g.9688109A>G, NC_000007.13:g.9688109A>T, NC_000007.14:g.9648479=, rs4236420, XR_927021.1:n.355-7805T>C, 4236420 +PA166181129 rs4237348 PA88 CACNB2 NC_000010.11:18509274 1 0 0 0 0 60580448, NC_000010.10:g.18798203T>G, NC_000010.10:g.18798203T>C, NG_016195.1:g.373598=, 56551605, NC_000010.10:g.18798203T>A, rs4237348, 4237348, NC_000010.11:g.18509274=, NC_000010.11:g.18509274T>A, NC_000010.11:g.18509274T>C, NC_000010.10:g.18798203=, NG_016195.1:g.373598T>G, 17692871, NC_000010.11:g.18509274T>G, NG_016195.1:g.373598T>C, NG_016195.1:g.373598T>A +PA166154586 rs4238001 PA97 SCARB1 NC_000012.12:124863717 3 1 0 0 0 NG_028199.1:g.5257=, NG_028199.1:g.5257G>A, NP_001076428.1:p.Gly2Ser, NC_000012.11:g.125348263=, NP_005496.4:p.Gly2=, XM_005253633.1:c.4G>A, XM_005253636.1:c.4G>A, XP_005253693.1:p.Gly2Ser, 4238001, rs4238001, XP_005253690.1:p.Gly2Ser, XR_945488.1:n.-1802C>T, NM_001082959.1:c.4G>A, NM_005505.4:c.4G>A, NC_000012.12:g.124863717=, NC_000012.11:g.125348263C>T, NC_000012.12:g.124863717C>T, NP_005496.4:p.Gly2Ser +PA166255761 rs4240157 PA425 ACE2 NC_000023.11:15568841 2 0 0 0 0 NC_000023.10:g.15586964C>T, NG_012575.1:g.38229=, NC_000023.10:g.15586964=, NC_000023.11:g.15568841C>G, NG_012575.1:g.38229G>C, 57013401, NG_012575.1:g.38229G>A, 4240157, NG_012575.2:g.38318G>A, rs4240157, NG_012575.2:g.38318=, NG_012575.2:g.38318G>C, NC_000023.10:g.15586964C>G, NC_000023.11:g.15568841=, NC_000023.11:g.15568841C>T +PA166155063 rs4240803 PA35923 SLC7A5 NC_000016.10:87855597 5 6 0 0 0 NC_000016.10:g.87855597G>A, NC_000016.10:g.87855597=, NC_000016.10:g.87855597G>C, NM_003486.5:c.539-3748C>T, rs57243996, XM_011523355.1:c.8-3748C>T, 4240803, NC_000016.9:g.87889203G>C, rs4240803, NC_000016.9:g.87889203G>A, NC_000016.10:g.87855597G>T, XM_011523354.1:c.538+13288C>T, NC_000016.9:g.87889203=, NC_000016.9:g.87889203G>T, 57243996, XM_006721286.2:c.20-3748C>T +PA166154905 rs4243761 NC_000015.10:26037644 1 0 0 0 0 NC_000015.10:g.26037644=, NR_040082.1:n.896-11481G>T, 61389947, 17558024, NC_000015.9:g.26282791G>A, NC_000015.10:g.26037644G>A, NC_000015.10:g.26037644G>C, NC_000015.9:g.26282791G>C, rs17558024, NC_000015.10:g.26037644G>T, NC_000015.9:g.26282791G>T, rs61389947, 4243761, rs4243761, NC_000015.9:g.26282791= +PA166154053 rs4244285 PA124 CYP2C19 NC_000010.11:94781859 853 55 48 0 0 17879456, NC_000010.10:g.96541616=, NP_000760.1:p.Pro227=, NM_000769.2:c.681G>A, CYP2C19*2, rs116940633, NC_000010.11:g.94781859=, NG_008384.3:g.24179=, NG_008384.2:g.24154G>A, 116940633, NC_000010.10:g.96541616G>C, rs17879456, rs60361278, NC_000010.11:g.94781859G>A, NG_008384.3:g.24179G>A, 4244285, NC_000010.11:g.94781859G>C, NG_008384.3:g.24179G>C, rs4244285, NC_000010.10:g.96541616G>A, NM_000769.1:c.681G>A, 60361278 +PA166181802 rs4244809 PA29699,PA29700,PA162392175 IGF2,IGF2-AS,INS-IGF2 NC_000011.10:2143103 1 0 0 0 0 17881423, NC_000011.10:g.2143103G>C, NG_008849.1:g.11501C>T, NG_050578.1:g.23107C>A, NC_000011.9:g.2164333=, NC_000011.10:g.2143103G>A, NG_008849.1:g.11501=, 4244809, NC_000011.9:g.2164333G>A, NC_000011.9:g.2164333G>C, rs4244809, NC_000011.10:g.2143103G>T, NG_050578.1:g.23107C>T, NG_008849.1:g.11501C>A, NC_000011.10:g.2143103=, NC_000011.9:g.2164333G>T, NG_050578.1:g.23107=, NG_008849.1:g.11501C>G, NG_050578.1:g.23107C>G +PA166154406 rs4245150 NC_000011.10:113493925 1 0 0 0 0 rs4245150, 17529894, 4245150, NC_000011.10:g.113493925G>C, NC_000011.9:g.113364647G>T, 60579057, rs58077171, NC_000011.9:g.113364647=, 56620107, XR_948024.1:n.102-2735C>A, rs17529894, NC_000011.10:g.113493925G>T, rs60579057, 58077171, rs56620107, NC_000011.9:g.113364647G>C, NC_000011.10:g.113493925= +PA166170012 rs4246215 PA28090 FEN1 NC_000011.10:61796827 1 0 0 0 0 11541089, 17146030, 41369146, NC_000011.9:g.61564299=, NC_000011.9:g.61564299G>T, NC_000011.9:g.61564299G>C, rs4246215, 4246215, 58966168, NC_000011.10:g.61796827=, NC_000011.10:g.61796827G>C, NC_000011.10:g.61796827G>T +PA166157096 rs4248158 PA30474,PA435 LTA,TNF NC_000006.12:31574756 1 0 0 0 0 NT_167245.2:g.2822489C>T, NT_167247.1:g.2922239C>T, XM_011548438.1:c.*1063C>T, NM_001159740.2:c.*1063C>T, XM_011548050.1:c.*1063C>T, XM_011548436.1:c.*1063C>T, XM_011548243.1:c.*1063C>T, XM_011547885.1:c.*1063C>T, XM_011547886.1:c.*1063C>T, XM_011547883.1:c.*1063C>T, XM_011547884.1:c.*1063C>T, XM_011548440.1:c.*1063C>T, NT_167249.2:g.2874036C>T, NT_167247.2:g.2916654C>T, NT_167245.1:g.2828074C>T, NG_007462.1:g.4184C>T, NG_007462.1:g.4184=, NT_167249.1:g.2873334C>T, NC_000006.12:g.31574756C>T, NM_000594.3:c.-986C>T, NC_000006.12:g.31574756=, XM_011547887.1:c.*1063C>T, NT_167248.1:g.2836171C>T, NC_000006.11:g.31542533C>T, rs115177064, 115177064, NT_113891.3:g.3052043C>T, NG_012010.1:g.7658C>T, XM_011548439.1:c.*1063C>T, NM_000595.3:c.*1063C>T, XM_011547653.1:c.*1063C>T, XM_011548242.1:c.*1063C>T, NT_167246.1:g.2885417C>T, XM_011548051.1:c.*1063C>T, XM_011548437.1:c.*1063C>T, NT_167246.2:g.2879797C>T, XM_011547250.1:c.*1063C>T, rs4248158, NT_167248.2:g.2830575C>T, NT_113891.2:g.3052149C>T, 4248158, XM_011547654.1:c.*1063C>T, XM_011514614.1:c.*1063C>T, XM_011514615.1:c.*1063C>T, XM_011514616.1:c.*1063C>T, NC_000006.11:g.31542533=, NG_012010.1:g.7658=, XM_011514617.1:c.*1063C>T, XM_011514618.1:c.*1063C>T +PA166157097 rs4248159 PA30474,PA435 LTA,TNF NC_000006.12:31574803 1 0 0 0 0 NT_167245.2:g.2822536C>A, NT_113891.2:g.3052196C>A, XM_011548439.1:c.*1110C>A, NG_012010.1:g.7705=, XM_011548438.1:c.*1110C>A, XM_011548436.1:c.*1110C>A, NG_007462.1:g.4231C>A, NT_167246.1:g.2885464C>A, XM_011548437.1:c.*1110C>A, NT_167245.1:g.2828121C>A, XM_011547654.1:c.*1110C>A, XM_011514616.1:c.*1110C>A, XM_011514617.1:c.*1110C>A, NM_001159740.2:c.*1110C>A, XM_011514614.1:c.*1110C>A, XM_011547653.1:c.*1110C>A, XM_011514618.1:c.*1110C>A, NT_113891.3:g.3052090C>A, NT_167247.1:g.2922286C>A, XM_011547883.1:c.*1110C>A, XM_011547885.1:c.*1110C>A, XM_011514615.1:c.*1110C>A, 4248159, rs4248159, NT_167249.1:g.2873381C>A, XM_011547884.1:c.*1110C>A, XM_011547887.1:c.*1110C>A, XM_011548440.1:c.*1110C>A, XM_011547886.1:c.*1110C>A, XM_011547250.1:c.*1110C>A, NC_000006.12:g.31574803C>A, NC_000006.11:g.31542580=, NC_000006.11:g.31542580C>A, NG_007462.1:g.4231=, NT_167248.2:g.2830622C>A, NT_167247.2:g.2916701C>A, NT_167249.2:g.2874083C>A, XM_011548050.1:c.*1110C>A, XM_011548243.1:c.*1110C>A, NM_000595.3:c.*1110C>A, XM_011548242.1:c.*1110C>A, XM_011548051.1:c.*1110C>A, NG_012010.1:g.7705C>A, NT_167246.2:g.2879844C>A, NM_000594.3:c.-939C>A, NT_167248.1:g.2836218C>A, NC_000006.12:g.31574803= +PA166157098 rs4248160 PA435 TNF NC_000006.12:31574916 1 0 0 0 0 NT_167246.1:g.2885577G>A, NG_012010.1:g.7818=, NG_007462.1:g.4344G>A, NT_113891.3:g.3052203G>A, NG_012010.1:g.7818G>A, NC_000006.11:g.31542693G>A, 140433197, NG_007462.1:g.4344=, NT_167245.2:g.2822649G>A, NC_000006.11:g.31542693=, NT_167249.1:g.2873494G>A, NT_167248.1:g.2836331G>A, NT_167245.1:g.2828234G>A, NT_113891.2:g.3052309G>A, NC_000006.12:g.31574916G>A, 4248160, rs4248160, NT_167247.2:g.2916814G>A, NT_167247.1:g.2922399G>A, NM_000594.3:c.-826G>A, NT_167248.2:g.2830735G>A, NT_167249.2:g.2874196G>A, NC_000006.12:g.31574916=, rs140433197, NT_167246.2:g.2879957G>A +PA166157099 rs4248163 PA435 TNF NC_000006.12:31575051 1 0 0 0 0 NC_000006.12:g.31575051C>G, NT_167246.2:g.2880092C>G, NT_113891.2:g.3052444C>G, NT_167247.2:g.2916949C>G, NT_167248.2:g.2830870C>G, NG_007462.1:g.4479=, NC_000006.12:g.31575051=, NC_000006.11:g.31542828C>A, NT_167246.1:g.2885712C>G, NC_000006.12:g.31575051C>A, NT_167245.2:g.2822784C>G, NT_167249.1:g.2873629C>G, 4248163, NG_012010.1:g.7953C>A, NG_007462.1:g.4479C>G, NT_167247.1:g.2922534C>G, NC_000006.11:g.31542828C>T, rs4248163, NT_113891.3:g.3052338C>G, NC_000006.11:g.31542828C>G, NM_000594.3:c.-691C>G, NG_007462.1:g.4479C>A, NG_007462.1:g.4479C>T, NG_012010.1:g.7953C>T, NT_167248.1:g.2836466C>G, NT_167245.1:g.2828369C>G, NC_000006.12:g.31575051C>T, NG_012010.1:g.7953=, NC_000006.11:g.31542828=, NT_167249.2:g.2874331C>G, NG_012010.1:g.7953C>G +PA166181168 rs4251417 PA312 SLC6A4 NC_000017.11:30224840 1 1 0 0 0 NC_000017.11:g.30224840=, rs4251417, 4251417, NC_000017.11:g.30224840C>T, NC_000017.10:g.28551858C>T, NC_000017.10:g.28551858=, NG_011747.2:g.16097=, 60594340, NG_011747.2:g.16097G>A +PA166155724 rs4251961 PA29816 IL1RN NC_000002.12:113116890 2 1 0 0 0 rs4251961, NM_001318914.1:c.-1411T>C, 4251961, rs36215122, XM_005263663.1:c.-1411T>C, XM_006712497.2:c.-1411T>C, NG_021240.1:g.3998=, NC_000002.12:g.113116890=, NC_000002.12:g.113116890T>C, NM_000577.4:c.-1129T>C, NC_000002.11:g.113874467T>C, XM_011511121.1:c.-272-3176T>C, 56470350, NG_021240.1:g.3998T>C, XM_005263662.1:c.-272-3176T>C, rs61468703, NM_173843.2:c.-1348T>C, 36215122, NM_173841.2:c.-1129T>C, rs56470350, NC_000002.11:g.113874467=, 61468703 +PA166155980 rs425215 PA24408 ABCG1 NC_000021.9:42286991 1 0 0 0 0 NC_000021.9:g.42286991=, NC_000021.9:g.42286991C>G, NM_004915.3:c.974-898C>G, NM_207628.1:c.908-898C>G, NM_207629.1:c.965-898C>G, XM_011529807.1:c.1007-898C>G, rs425215, NC_000021.8:g.43707101=, 425215, rs17767113, XM_005261209.1:c.1007-898C>G, rs59807195, NC_000021.8:g.43707101C>G, 690665, XM_011529806.1:c.1007-898C>G, rs690665, NM_207627.1:c.980-898C>G, 17767113, 59807195, NM_016818.2:c.974-898C>G, NM_207174.1:c.1007-898C>G +PA166157246 rs42524 PA35042 COL1A2 NC_000007.14:94413927 1 0 0 0 0 1136007, rs10383941, rs1136007, 42524, NC_000007.14:g.94413927C>T, NP_000080.2:p.Pro549=, NC_000007.14:g.94413927C>G, rs17857444, NP_000080.2:p.Pro549Thr, NC_000007.14:g.94413927C>A, 10383941, rs42524, NP_000080.2:p.Pro549Ala, 17857444, 59646360, NG_007405.1:g.24367C>A, NC_000007.14:g.94413927=, NC_000007.13:g.94043239C>G, NC_000007.13:g.94043239C>A, NG_007405.1:g.24367C>G, rs59646360, NG_007405.1:g.24367=, NC_000007.13:g.94043239=, NM_000089.3:c.1645C>G, NC_000007.13:g.94043239C>T, NG_007405.1:g.24367C>T, NP_000080.2:p.Pro549Ser +PA166156105 rs4253728 PA280 PPARA NC_000022.11:46214170 21 3 0 0 0 NC_000022.11:g.46214170G>A, XM_005261654.1:c.209-1003G>A, XM_005261655.2:c.209-1003G>A, rs56722050, XM_011530244.1:c.-198-1003G>A, 17242080, NC_000022.10:g.46610067=, XM_011530239.1:c.209-1003G>A, XR_937869.1:n.524-1003G>A, XM_005261657.1:c.209-1003G>A, NM_005036.4:c.209-1003G>A, XM_005261656.1:c.209-1003G>A, XM_011530245.1:c.-198-1003G>A, rs17242080, XM_005261653.1:c.209-1003G>A, XM_011530241.1:c.209-1003G>A, XR_937870.1:n.523-1003G>A, rs56473198, NG_012204.2:g.68637=, NG_012204.2:g.68637G>A, NG_012204.1:g.68569=, XM_005261658.1:c.209-1003G>A, NC_000022.11:g.46214170=, XR_244379.1:n.432-1003G>A, 56473198, NG_012204.1:g.68569G>A, XM_011530242.1:c.209-1003G>A, 56722050, NM_001001928.2:c.209-1003G>A, XM_011530240.1:c.209-1003G>A, XM_006724269.2:c.209-1003G>A, XM_006724270.2:c.209-1003G>A, XM_005261655.1:c.209-1003G>A, 4253728, rs4253728, XM_011530243.1:c.209-1003G>A, NC_000022.10:g.46610067G>A, XM_005261656.2:c.209-1003G>A +PA166176416 rs4253730 PA280 PPARA NC_000022.11:46214512 1 0 0 0 0 4253730, 5766749, rs4253730, NC_000022.11:g.46214512=, NG_012204.1:g.68911A>G, NC_000022.10:g.46610409A>G, NG_012204.1:g.68911=, 17248453, NC_000022.11:g.46214512A>G, NG_012204.2:g.68979=, 57451858, NC_000022.10:g.46610409=, NG_012204.2:g.68979A>G +PA166156106 rs4253778 PA280 PPARA NC_000022.11:46234737 2 2 0 0 0 XR_937870.1:n.1271-396G>C, NC_000022.11:g.46234737G>C, NG_012204.2:g.89204=, NM_005036.4:c.1160-396G>C, XM_005261657.1:c.1160-396G>C, XM_005261654.1:c.1160-396G>C, NG_012204.1:g.89136=, XR_937869.1:n.1276-396G>C, XM_005261655.2:c.1160-396G>C, NC_000022.11:g.46234737=, 61046783, NC_000022.11:g.46234737G>T, XM_005261656.1:c.1160-396G>C, rs61046783, XM_011530241.1:c.1160-396G>C, NC_000022.10:g.46630634G>C, rs4253778, XM_005261653.1:c.1160-396G>C, rs17248629, 4253778, XM_011530242.1:c.1160-396G>C, NG_012204.2:g.89204G>C, XM_011530245.1:c.758-396G>C, XM_006724270.2:c.1160-396G>C, XM_005261658.1:c.1160-396G>C, XM_011530240.1:c.1160-396G>C, NM_001001928.2:c.1160-396G>C, NC_000022.10:g.46630634=, NG_012204.1:g.89136G>T, 57323063, XM_005261655.1:c.1160-396G>C, NC_000022.10:g.46630634G>T, XM_011530239.1:c.1160-396G>C, XM_011530243.1:c.1160-396G>C, 17248629, NG_012204.2:g.89204G>T, XM_005261656.2:c.1160-396G>C, XM_006724269.2:c.1160-396G>C, XM_011530244.1:c.758-396G>C, rs57323063, NG_012204.1:g.89136G>C, XR_244379.1:n.1184-396G>C +PA166164883 rs4261468 PA34117 RAB27A NC_000015.10:55263404 2 0 0 0 0 NC_000015.10:g.55263404A>G, NG_009103.1:g.31400T>C, NC_000015.10:g.55263404=, NC_000015.10:g.55263404A>T, NC_000015.9:g.55555602=, rs4261468, 4261468, 57242104, NC_000015.9:g.55555602A>T, NG_009103.1:g.31400T>A, NC_000015.9:g.55555602A>G, NG_009103.1:g.31400= +PA166155725 rs4261716 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233684471 2 1 0 0 0 NG_002601.2:g.99728G>T, 58252906, NC_000002.12:g.233684471=, rs4261716, NM_019075.2:c.855+47094G>T, 4261716, NM_019077.2:c.855+1679G>T, XR_241241.1:n.941+11682G>T, 17683792, NC_000002.12:g.233684471G>T, XM_005246081.1:c.855+1679G>T, NM_021027.2:c.855+11682G>T, NC_000002.11:g.234593117=, rs17683792, NG_002601.2:g.99728=, rs58252906, NM_019076.4:c.855+65909G>T, NC_000002.11:g.234593117G>T +PA166177108 rs4261893 PA162410152 ZNF385D NC_000003.12:21753382 1 1 0 0 0 NC_000003.12:g.21753382C>G, NC_000003.12:g.21753382=, NC_000003.11:g.21794874C>G, NC_000003.12:g.21753382C>T, NC_000003.11:g.21794874C>T, rs4261893, 4261893, NC_000003.11:g.21794874= +PA166156397 rs4263329 PA25294 BCHE NC_000003.12:165821822 1 0 0 0 0 NG_009031.1:g.20644C>A, NC_000003.11:g.165539610G>T, NG_009031.1:g.20644C>G, NG_009031.1:g.20644=, NC_000003.11:g.165539610=, NC_000003.12:g.165821822G>C, NC_000003.12:g.165821822G>A, rs58195486, NC_000003.12:g.165821822=, NC_000003.11:g.165539610G>A, XM_005247685.1:c.1640+7695C>T, NC_000003.11:g.165539610G>C, NG_009031.1:g.20644C>T, 4263329, rs4263329, 58195486, NM_000055.2:c.1517+7695C>T, NC_000003.12:g.165821822G>T +PA166179955 rs4264931 PA29557 HTR4 NC_000005.10:148494993 1 0 0 0 0 NG_029052.1:g.164184=, 57086269, NC_000005.9:g.147874556=, NG_029052.1:g.164184C>G, NC_000005.10:g.148494993G>C, NC_000005.10:g.148494993G>A, rs4264931, 56503917, NC_000005.9:g.147874556G>C, NC_000005.9:g.147874556G>A, 4264931, NC_000005.10:g.148494993=, NG_029052.1:g.164184C>T +PA166155220 rs4267385 NC_000017.11:63506395 1 1 0 0 0 NC_000017.11:g.63506395C>T, NC_000017.11:g.63506395=, NC_000017.10:g.61583756=, rs56539668, NC_000017.10:g.61583756C>T, rs17540162, rs58672672, 17540162, 56539668, 4267385, rs4267385, 58672672 +PA166157597 rs4271002 PA18 NAT2 NC_000008.11:18390758 1 1 0 0 0 NG_012246.1:g.4514G>C, 17642704, NG_012246.1:g.4514=, XM_011544358.1:c.-1985G>C, NC_000008.10:g.18248268G>T, rs4271002, NC_000008.11:g.18390758G>T, 4271002, NC_000008.11:g.18390758=, rs17642704, NG_012246.1:g.4514G>T, NM_000015.2:c.-594G>C, NC_000008.11:g.18390758G>C, NC_000008.10:g.18248268=, NC_000008.10:g.18248268G>C +PA166160738 rs4273729 NC_000006.12:32710820 5 1 0 0 0 NC_000006.12:g.32710820C>A, NC_000006.12:g.32710820C>G, NC_000006.11:g.32678597C>G, 114645826, 79542555, NC_000006.11:g.32678597C>A, 4273729, 117344696, rs4273729, NC_000006.11:g.32678597=, NC_000006.12:g.32710820C>T, NC_000006.12:g.32710820=, NC_000006.11:g.32678597C>T +PA166179866 rs4274224 PA27478 DRD2 NC_000011.10:113448730 1 0 0 0 0 NC_000011.10:g.113448730G>A, NC_000011.9:g.113319452=, NC_000011.10:g.113448730G>C, NG_008841.1:g.31550C>T, NG_008841.1:g.31550C>G, 60794782, 4274224, NG_008841.1:g.31550=, NC_000011.10:g.113448730=, NC_000011.9:g.113319452G>C, rs4274224, NC_000011.9:g.113319452G>A +PA166153763 rs4278350 NC_000001.11:88090245 1 1 0 0 0 NC_000001.11:g.88090245C>T, rs4278350, NC_000001.10:g.88555928C>T, rs61141471, 4278350, 61141471, NC_000001.10:g.88555928=, NC_000001.11:g.88090245= +PA166154587 rs4284427 PA24401 ABCD2 NC_000012.12:39562000 1 0 0 0 0 rs6581190, rs61575073, NC_000012.11:g.39955802=, NC_000012.11:g.39955802T>C, NC_000012.11:g.39955802T>A, XM_011538027.1:c.2004-7869A>G, NM_005164.3:c.2004-7869A>G, 61575073, NC_000012.12:g.39562000T>C, NC_000012.12:g.39562000=, rs4284427, NC_000012.12:g.39562000T>A, 4284427, 6581190 +PA166154588 rs4285917 NC_000012.12:39508063 1 0 0 0 0 4285917, NC_000012.12:g.39508063=, NC_000012.12:g.39508063A>G, rs4285917, NC_000012.11:g.39901865A>G, NC_000012.11:g.39901865= +PA166155981 rs428785 PA24536 ADAMTS1 NC_000021.9:26844276 1 1 0 0 0 NC_000021.9:g.26844276C>A, NP_008919.3:p.Ala227Ser, NC_000021.8:g.28216595C>G, NM_006988.4:c.679G>C, NP_008919.3:p.Ala227Thr, 17857114, NC_000021.8:g.28216595C>A, NP_008919.3:p.Ala227Pro, 428785, rs428785, NC_000021.9:g.26844276=, NC_000021.9:g.26844276C>T, NC_000021.8:g.28216595=, NC_000021.8:g.28216595C>T, rs17857114, NP_008919.3:p.Ala227=, NC_000021.9:g.26844276C>G +PA166154589 rs4290270 PA128747823 TPH2 NC_000012.12:72022455 4 0 0 0 0 rs57072898, rs4290270, 4290270, NP_775489.2:p.Ala375=, NC_000012.11:g.72416235A>T, NG_008279.1:g.88610A>T, NG_008279.1:g.88610=, XM_005268642.1:c.1143A>T, XP_005268699.1:p.Ala381=, 57072898, NM_173353.3:c.1125A>T, XM_011537899.1:c.531A>T, NC_000012.12:g.72022455A>T, NC_000012.12:g.72022455=, NC_000012.11:g.72416235=, XP_011536201.1:p.Ala177= +PA166155143 rs4291 PA139 ACE NC_000017.11:63476833 5 3 0 0 0 rs4291, NC_000017.10:g.61554194=, NG_011648.1:g.4761T>A, XM_005257110.1:c.-717T>A, NG_011648.1:g.4761=, 4291, NG_011648.1:g.4761T>C, NC_000017.11:g.63476833=, NM_000789.3:c.-262T>A, NC_000017.10:g.61554194T>A, NC_000017.10:g.61554194T>C, NC_000017.11:g.63476833T>A, NC_000017.11:g.63476833T>C +PA166155144 rs4292 PA139 ACE NC_000017.11:63476980 1 1 0 0 0 NC_000017.10:g.61554341=, NG_011648.1:g.4908C>T, NC_000017.10:g.61554341C>G, NC_000017.10:g.61554341C>T, NM_000789.3:c.-115C>T, NC_000017.11:g.63476980C>G, NG_011648.1:g.4908C>G, NC_000017.11:g.63476980C>A, rs4292, 4292, NG_011648.1:g.4908C>A, XM_005257110.1:c.-570C>T, NC_000017.11:g.63476980=, NC_000017.10:g.61554341C>A, NC_000017.11:g.63476980C>T, NG_011648.1:g.4908= +PA166156584 rs4292394 PA361 UGT2B7 NC_000004.12:69107231 1 1 0 0 0 NC_000004.12:g.69107231C>G, XM_005265702.2:c.312C>G, XP_011530532.1:p.Leu353=, XP_011530531.1:p.Leu353=, 4292394, rs4292394, 76973289, XP_005265759.1:p.Leu104=, rs61690735, XM_011532229.1:c.1059C>G, XM_011532231.1:c.312C>G, NM_001074.2:c.1059C>G, XM_011532230.1:c.1059C>G, 61690735, NC_000004.11:g.69972949=, NC_000004.11:g.69972949C>G, rs76973289, NC_000004.12:g.69107231=, XM_005265702.1:c.312C>G, XP_011530533.1:p.Leu104=, NP_001065.2:p.Leu353= +PA166153764 rs4292956 PA115 CHRNB2 NC_000001.11:154576470 1 0 0 0 0 NC_000001.10:g.154548946=, NM_000748.2:c.*538C>T, 4292956, rs4292956, NC_000001.10:g.154548946C>T, NC_000001.11:g.154576470C>T, NC_000001.11:g.154576470=, NG_008027.1:g.13690C>T, NG_008027.1:g.13690= +PA166155351 rs429358 PA51,PA55,PA38274 APOC1,APOE,TOMM40 NC_000019.10:44908684 28 5 0 0 2 NM_001302688.1:c.466T>C, NM_000041.3:c.388T>C, NG_007084.2:g.7903T>C, NP_000032.1:p.Cys130Arg, NM_001302690.1:c.388T>C, NP_000032.1:p.Cys130=, NG_007084.2:g.7903=, 630496, NP_001289618.1:p.Cys130Arg, NP_001289617.1:p.Cys156Arg, rs630496, NC_000019.9:g.45411941=, XM_005258868.1:c.388T>C, 61228756, NC_000019.10:g.44908684T>C, NC_000019.9:g.45411941T>C, XP_005258924.1:p.Cys156Arg, rs61228756, 429358, XP_005258925.1:p.Cys130Arg, NC_000019.10:g.44908684=, rs429358, NP_001289620.1:p.Cys130Arg, NM_001302689.1:c.388T>C, NP_001289619.1:p.Cys130Arg, XM_005258867.1:c.466T>C, NM_001302691.1:c.388T>C +PA166154906 rs4294800 PA35837 SLCO3A1 NC_000015.10:91917464 1 0 0 0 0 NM_001145044.1:c.646+1006A>G, XM_005254890.1:c.472+1006A>G, XM_005254891.1:c.301+1006A>G, XR_429450.2:n.566+1006A>G, rs17596258, NC_000015.9:g.92460694A>T, NC_000015.10:g.91917464A>C, NC_000015.9:g.92460694=, rs4294800, NC_000015.10:g.91917464=, NM_013272.3:c.646+1006A>G, 4294800, NC_000015.10:g.91917464A>G, XR_931796.1:n.736+1006A>G, NC_000015.9:g.92460694A>G, 17596258, XR_931795.1:n.736+1006A>G, NC_000015.9:g.92460694A>C, XM_011521456.1:c.472+1006A>G, NC_000015.10:g.91917464A>T, XM_005254889.1:c.646+1006A>G, XM_011521457.1:c.646+1006A>G +PA166156917 rs429608 PA35798 SKIC2 NC_000006.12:31962685 1 0 0 0 0 NC_000006.11:g.31930462G>A, XR_431044.2:n.1300-29G>A, XR_953083.1:n.1300-29G>A, rs57135938, XR_430997.2:n.1300-29G>A, XR_431014.2:n.1300-29G>A, 116503776, 61584412, NT_167247.2:g.3304721G>A, rs116503776, NM_006929.4:c.1212-29G>A, NT_113891.2:g.3440218G>A, NT_167248.1:g.3224251G>A, NT_167245.1:g.3216045G>A, XM_011547275.1:c.1212-29G>A, rs61584412, NG_032652.1:g.8882G>A, XR_926301.1:n.1300-29G>A, XM_011548076.1:c.1212-29G>A, rs429608, NC_000006.12:g.31962685G>A, rs3957210, XR_952642.1:n.1300-29G>A, 112505355, NT_167248.2:g.3218655G>A, XM_011548460.1:c.1212-29G>A, XM_011514815.1:c.1212-29G>A, 3895067, NT_167245.2:g.3210460G>A, 117443519, XR_952947.1:n.1300-29G>A, XM_006715168.2:c.1212-29G>A, 16867764, NC_000006.12:g.31962685=, XR_953010.1:n.1300-29G>A, XM_011547678.1:c.1212-29G>A, 7768314, NG_032652.1:g.8882=, rs7768314, 57135938, rs909163, NT_167249.2:g.3263874G>A, XM_011548265.1:c.1212-29G>A, NT_167249.1:g.3263172G>A, XR_430936.2:n.1300-29G>A, rs3895067, rs112505355, XM_006725497.2:c.1212-29G>A, rs117443519, 3957210, 909163, NC_000006.11:g.31930462=, NT_113891.3:g.3440112G>A, XR_952212.1:n.1300-29G>A, 429608, NT_167247.1:g.3310306G>A, rs16867764 +PA166180068 rs4296738 NC_000004.12:69027986 2 0 0 0 0 NC_000004.12:g.69027986A>C, NG_001280.4:g.299A>G, 60208364, NG_001280.3:g.302A>C, NC_000004.12:g.69027986A>G, NG_001280.4:g.299A>C, NC_000004.11:g.69893704A>T, rs4296738, 4296738, NG_001280.3:g.302=, NG_001280.4:g.299=, NG_001280.3:g.302A>G, NC_000004.11:g.69893704A>G, NC_000004.12:g.69027986=, NC_000004.11:g.69893704=, NG_001280.3:g.302A>T, NC_000004.12:g.69027986A>T, NC_000004.11:g.69893704A>C, NG_001280.4:g.299A>T +PA166157852 rs430363 NC_000023.11:43979732 1 0 0 0 0 NC_000023.10:g.43838978=, NC_000023.11:g.43979732G>T, rs430363, NC_000023.10:g.43838978G>T, NC_000023.11:g.43979732=, 430363 +PA166157705 rs430397 PA29504,PA142671100 HSPA5,RABEPK NC_000009.12:125238840 6 1 0 0 0 430397, NC_000009.12:g.125238840C>T, rs60157411, rs11567635, NG_027761.1:g.7548G>A, NC_000009.11:g.128001119C>T, 52822178, 11567635, NM_005347.4:c.997-13G>A, rs35719250, NC_000009.12:g.125238840=, NC_000009.11:g.128001119=, rs430397, rs52822178, 60157411, NG_027761.1:g.7548=, 3765559, 35719250, rs3765559 +PA166157100 rs4305746 PA134881141 TAAR6 NC_000006.12:132572626 1 1 0 0 0 NC_000006.12:g.132572626G>A, NG_016544.1:g.7305G>A, 7452939, NG_016544.1:g.7305=, rs7452939, NC_000006.12:g.132572626=, NC_000006.11:g.132893765G>A, 61299378, rs4305746, rs61299378, 4305746, NC_000006.11:g.132893765= +PA166157772 rs4305983 PA426 SLC28A3 NC_000009.12:84329536 1 0 0 0 0 XM_011518905.1:c.60+11038T>C, XR_929832.1:n.187+11038T>C, NR_037638.2:n.206+11038T>C, rs74305426, rs4305983, XM_011518907.1:c.-97-16082T>C, NM_001199633.1:c.60+11038T>C, XM_011518910.1:c.60+11038T>C, NC_000009.11:g.86944451=, 74305426, NC_000009.12:g.84329536=, NC_000009.12:g.84329536A>G, NC_000009.11:g.86944451A>G, 4305983, XM_011518906.1:c.60+11038T>C, NM_022127.2:c.60+11038T>C, XM_011518909.1:c.60+11038T>C +PA166153765 rs4329505 PA29835 IL6R NC_000001.11:154459944 4 1 0 0 0 NM_181359.2:c.1067-5190T>C, XM_005245139.1:c.925-5190T>C, XM_005245138.1:c.1098-5190T>C, NM_000565.3:c.1161-5190T>C, XM_005245140.1:c.*2-5190T>C, XM_006711299.2:c.1115-5190T>C, NG_012087.1:g.59752=, NC_000001.11:g.154459944=, NC_000001.11:g.154459944T>C, 4329505, rs4329505, NC_000001.10:g.154432420=, NC_000001.10:g.154432420T>C, XM_006711298.1:c.1209-5190T>C, NG_012087.1:g.59752T>C +PA166155145 rs4331 PA139 ACE NC_000017.11:63486691 3 0 0 0 0 4331, 17403344, 17230334, 2229837, rs2229837, NG_011648.1:g.14619A>T, NM_001178057.1:c.471A>G, 57496360, rs4973, 386592477, NM_152830.2:c.471A>G, NM_000789.3:c.2193A>G, rs17853604, rs57496360, XP_005257167.1:p.Ala548=, NG_011648.1:g.14619A>C, rs386592477, NP_690043.1:p.Ala157=, NC_000017.10:g.61564052A>C, NG_011648.1:g.14619A>G, 17853604, NP_001171528.1:p.Ala157=, rs4331, NC_000017.11:g.63486691A>T, 3730030, NC_000017.10:g.61564052=, rs3730030, rs17230334, NC_000017.10:g.61564052A>T, NC_000017.10:g.61564052A>G, NP_000780.1:p.Ala731=, XM_005257110.1:c.1644A>G, XP_006721800.2:p.Ala177=, rs17403344, 4973, NC_000017.11:g.63486691A>G, NC_000017.11:g.63486691=, NG_011648.1:g.14619=, XM_006721737.2:c.531A>G, NC_000017.11:g.63486691A>C +PA166177109 rs4334661 PA162410152 ZNF385D NC_000003.12:21757936 1 1 0 0 0 NC_000003.12:g.21757936T>A, NC_000003.11:g.21799428T>C, rs4334661, NC_000003.12:g.21757936=, NC_000003.11:g.21799428=, 4334661, NC_000003.11:g.21799428T>A, NC_000003.12:g.21757936T>G, 59068582, NC_000003.11:g.21799428T>G, NC_000003.12:g.21757936T>C +PA166155146 rs4341 PA139 ACE NC_000017.11:63488629 4 2 0 0 0 NC_000017.11:g.63488629G>C, NM_152830.2:c.584-19G>C, 17442272, NG_011648.1:g.16557G>C, NC_000017.11:g.63488629G>A, NC_000017.10:g.61565990G>T, XM_006721737.2:c.644-19G>C, 4341, XM_005257110.1:c.1757-19G>C, rs4341, NC_000017.10:g.61565990=, rs59314714, NG_011648.1:g.16557G>A, NC_000017.11:g.63488629=, NC_000017.10:g.61565990G>A, NC_000017.10:g.61565990G>C, rs17442272, NG_011648.1:g.16557=, NG_011648.1:g.16557G>T, NM_001178057.1:c.584-19G>C, NC_000017.11:g.63488629G>T, 59314714, NM_000789.3:c.2306-19G>C +PA166155147 rs4343 PA139 ACE NC_000017.11:63488670 5 2 0 0 0 XP_005257167.1:p.Thr593=, 56513988, rs4343, NC_000017.11:g.63488670G>A, rs2228582, 2228582, rs58890782, XM_005257110.1:c.1779G>A, rs16946944, NP_690043.1:p.Thr202=, NG_011648.1:g.16598=, rs4974, XM_006721737.2:c.666G>A, rs17853605, XP_006721800.2:p.Thr222=, NM_000789.3:c.2328G>A, 58890782, NP_000780.1:p.Thr776=, NC_000017.10:g.61566031G>A, 4343, 16946944, 17853605, NG_011648.1:g.16598G>A, 3730035, NP_001171528.1:p.Thr202=, rs3730035, NM_152830.2:c.606G>A, NM_001178057.1:c.606G>A, NC_000017.10:g.61566031=, rs56513988, 4974, NC_000017.11:g.63488670= +PA166155148 rs4344 PA139 ACE NC_000017.11:63489363 1 1 0 0 0 NM_001178057.1:c.919+231G>A, XM_006721737.2:c.979+231G>A, NC_000017.11:g.63489363=, 4344, 17236716, 17539537, NC_000017.11:g.63489363G>A, NC_000017.10:g.61566724=, NC_000017.11:g.63489363G>C, rs17236716, NG_011648.1:g.17291=, NC_000017.10:g.61566724G>C, rs4344, 60974995, rs17539537, NC_000017.10:g.61566724G>A, XM_005257110.1:c.2092+231G>A, rs60974995, NM_000789.3:c.2641+231G>A, NG_011648.1:g.17291G>A, NM_152830.2:c.919+231G>A, NG_011648.1:g.17291G>C +PA166267641 rs434606 NC_000019.10:41026100 1 0 0 0 0 NC_000019.9:g.41532005=, NG_029327.2:g.2264=, 3745278, 434606, NC_000019.9:g.41532005G>A, NC_000019.10:g.41026100=, NG_029327.2:g.2264C>T, NC_000019.10:g.41026100G>A, rs434606 +PA166154054 rs4353229 PA26091 CASP7 NC_000010.11:113729830 3 1 0 0 0 NC_000010.10:g.115489589T>A, NC_000010.11:g.113729830=, XM_011540260.1:c.*290T>C, NM_033340.3:c.*406T>C, XM_011540259.1:c.*290T>C, rs57355355, 4353229, NM_001267057.1:c.*290T>C, rs4353229, NM_001227.4:c.*290T>C, NM_001267058.1:c.*290T>C, XM_006718018.1:c.*290T>C, XM_006718017.2:c.*290T>C, NC_000010.11:g.113729830T>C, NM_033339.4:c.*290T>C, NM_033338.5:c.*290T>C, 57355355, NC_000010.10:g.115489589T>C, NC_000010.11:g.113729830T>A, NM_001267056.1:c.*290T>C, NC_000010.10:g.115489589= +PA166196163 rs4354668 PA35827 SLC1A2 NC_000011.10:35419429 1 0 0 0 0 NC_000011.9:g.35440976=, NC_000011.10:g.35419429=, NG_008727.1:g.5130=, NG_008727.1:g.5130A>C, NC_000011.9:g.35440976T>G, NC_000011.10:g.35419429T>G, NC_000011.10:g.35419429T>A, NG_008727.2:g.5130=, NC_000011.9:g.35440976T>A, NG_008727.2:g.5130A>C, 4354668, rs4354668, NG_008727.1:g.5130A>T, NG_008727.2:g.5130A>T +PA166157598 rs4355801 NC_000008.11:118911634 3 0 0 0 0 NC_000008.10:g.119923873A>G, 56915416, NC_000008.11:g.118911634A>T, 4355801, rs17671705, rs4355801, 17671705, NC_000008.10:g.119923873A>T, NC_000008.11:g.118911634=, NC_000008.10:g.119923873=, NC_000008.11:g.118911634A>G, rs56915416 +PA166157773 rs4358872 PA31818 NTRK2 NC_000009.12:84986054 1 1 0 0 0 rs4358872, 4358872, NC_000009.11:g.87600969T>G, NM_001018064.2:c.2124+30537T>G, XM_005252003.1:c.2172+30537T>G, XM_011518718.1:c.2124+30537T>G, NC_000009.12:g.84986054=, NC_000009.11:g.87600969=, XM_005252004.1:c.2172+30537T>G, XM_005252002.1:c.2172+30537T>G, XM_011518719.1:c.2124+30537T>G, NM_006180.4:c.2172+30537T>G, XM_005252005.1:c.2124+30537T>G, NG_012201.2:g.322504=, XM_005252001.1:c.2172+30537T>G, NC_000009.12:g.84986054T>G, NG_012201.2:g.322504T>G +PA166155149 rs4359 PA139 ACE NC_000017.11:63494982 1 1 0 0 0 NM_001178057.1:c.1658+512T>C, 17236744, 57607973, NG_011648.1:g.22910T>C, NG_011648.1:g.22910T>A, NC_000017.11:g.63494982T>A, NM_152830.2:c.1658+512T>C, NM_000789.3:c.3380+512T>C, NC_000017.11:g.63494982T>C, NC_000017.11:g.63494982=, rs57607973, rs4359, XM_005257110.1:c.2831+512T>C, NC_000017.10:g.61572343=, NC_000017.10:g.61572343T>C, rs17236744, NG_011648.1:g.22910=, XM_006721737.2:c.1718+512T>C, 4359, NC_000017.10:g.61572343T>A +PA166155150 rs4363 PA139 ACE NC_000017.11:63497131 1 0 0 0 0 NM_001178057.1:c.1847-6G>A, rs4363, 17236750, 3730049, rs3730049, NC_000017.10:g.61574492=, NM_152830.2:c.1970-6G>A, rs16946968, NG_011648.1:g.25059=, 16946968, 4363, NC_000017.10:g.61574492G>A, 74251230, NC_000017.10:g.61574492G>C, NC_000017.11:g.63497131G>A, NM_000789.3:c.3692-6G>A, NC_000017.11:g.63497131G>C, 61045345, XM_006721737.2:c.2030-6G>A, rs74251230, NG_011648.1:g.25059G>C, rs17236750, NG_011648.1:g.25059G>A, XM_005257110.1:c.3143-6G>A, rs61045345, NC_000017.11:g.63497131= +PA166154590 rs4363657 PA134865839 SLCO1B1 NC_000012.12:21215788 9 1 0 0 0 4363657, NC_000012.11:g.21368722=, NG_011745.1:g.89595T>A, NC_000012.12:g.21215788T>G, rs4363657, NC_000012.12:g.21215788=, NG_011745.1:g.89595T>G, NG_011745.1:g.89595T>C, NG_011745.1:g.89595=, NC_000012.11:g.21368722T>G, NM_006446.4:c.1498-1331T>C, NC_000012.11:g.21368722T>C, rs59042670, NC_000012.11:g.21368722T>A, NC_000012.12:g.21215788T>C, 59042670, NC_000012.12:g.21215788T>A +PA166180989 rs4364871 PA27020 CTPS1 NC_000001.11:41003732 1 0 0 0 0 NG_034208.1:g.29434C>T, NG_034208.1:g.29434=, rs4364871, 4364871, NC_000001.10:g.41469404=, 17191898, NC_000001.11:g.41003732=, NC_000001.11:g.41003732C>T, NC_000001.10:g.41469404C>T +PA166155294 rs4369774 PA36601 TNFRSF11A NC_000018.10:62343215 1 0 0 0 0 NG_008098.1:g.22901A>C, NC_000018.9:g.60010448A>T, XM_005266777.1:c.76-4953A>C, 58602560, NC_000018.9:g.60010448A>G, NM_001270950.1:c.76-4953A>C, XM_011526244.1:c.76-4953A>C, NM_003839.2:c.76-4953A>C, 4369774, rs4369774, NM_003839.3:c.76-4953A>C, NG_008098.1:g.22901A>T, rs58602560, NM_001270951.1:c.76-4953A>C, NG_008098.1:g.22901=, NG_008098.1:g.22901A>G, NM_001278268.1:c.76-4953A>C, NC_000018.10:g.62343215A>G, NC_000018.10:g.62343215A>C, NC_000018.9:g.60010448=, XM_011526245.1:c.-43-4953A>C, NC_000018.9:g.60010448A>C, NC_000018.10:g.62343215A>T, NM_001270949.1:c.76-4953A>C, NC_000018.10:g.62343215=, XR_935263.1:n.91-4953A>C +PA166156825 rs4376293 NC_000005.10:163162852 1 0 0 0 0 NC_000005.10:g.163162852T>G, rs4376293, rs58137573, 4376293, NC_000005.9:g.162589858=, NC_000005.9:g.162589858T>G, NC_000005.9:g.162589858T>C, NC_000005.10:g.163162852=, 17527301, NC_000005.10:g.163162852T>C, rs17527301, 58137573 +PA166155726 rs4377367 PA24974 ARHGEF4 NC_000002.12:130967332 1 0 0 0 0 XM_011511274.1:c.3985+20697C>T, NC_000002.12:g.130967332=, XM_005263683.1:c.3985+20697C>T, NC_000002.12:g.130967332C>G, NC_000002.11:g.131724905=, XM_005263681.1:c.3985+20697C>T, NC_000002.11:g.131724905C>T, XR_244821.1:n.4023+20697C>T, XM_011511275.1:c.3949+20697C>T, rs58214874, XM_005263682.1:c.3874+20697C>T, NC_000002.12:g.130967332C>T, NM_015320.3:c.427+20697C>T, rs4377367, NM_032995.2:c.427+20697C>T, 4377367, NC_000002.11:g.131724905C>G, 58214874, XM_005263687.2:c.58+3083C>T, XM_011511276.1:c.-55+20697C>T, XM_005263687.1:c.58+3083C>T, NC_000002.12:g.130967332C>A, NC_000002.11:g.131724905C>A +PA166170093 rs4379368 PA25942 SUGCT NC_000007.14:40426601 1 1 0 0 0 NC_000007.13:g.40466200=, NG_023422.2:g.296626=, NC_000007.14:g.40426601=, NG_023422.1:g.296626=, 4379368, 58743872, NC_000007.13:g.40466200C>T, NG_023422.1:g.296626C>T, NG_023422.2:g.296626C>T, rs4379368, NC_000007.14:g.40426601C>T +PA166156488 rs437943 PA164715938 ARAP2 NC_000004.12:35370476 1 1 0 0 0 NC_000004.12:g.35370476=, 437943, NC_000004.11:g.35372098=, rs437943, NC_000004.11:g.35372098T>C, NC_000004.12:g.35370476T>C, rs58558829, 58558829 +PA166160033 rs4379440 PA25056 ASPH NC_000008.11:61553255 1 1 0 0 0 NC_000008.11:g.61553255=, NC_000008.11:g.61553255G>T, 56774805, rs4379440, 4379440, NG_013210.1:g.166386=, NG_013210.1:g.166386C>A, NC_000008.10:g.62465814=, NC_000008.10:g.62465814G>T +PA166312862 rs4386623 PA134980133 FRAS1 NC_000004.12:78070036 1 0 0 0 0 NC_000004.12:g.78070036G>A, rs4386623, 4386623, NC_000004.12:g.78070036=, NG_015812.2:g.17467=, NC_000004.11:g.78991190=, NC_000004.11:g.78991190G>A, NG_015812.2:g.17467G>A +PA166156826 rs4386686 NC_000005.10:61302119 3 1 0 0 0 rs57930730, XR_948364.1:n.549+2395G>C, NC_000005.10:g.61302119C>G, NC_000005.10:g.61302119=, rs4386686, NC_000005.9:g.60597946C>G, NC_000005.9:g.60597946=, 4386686, 57930730, XR_948363.1:n.547+2395G>C +PA166199004 rs4387287 PA134987118 STN1 NC_000010.11:103918139 1 1 0 0 0 NC_000010.11:g.103918139=, NC_000010.11:g.103918139A>C, NC_000010.10:g.105677897A>G, NG_056297.1:g.129A>G, NC_000010.10:g.105677897=, NG_056297.1:g.129=, rs4387287, 4387287, NC_000010.11:g.103918139A>G, NC_000010.10:g.105677897A>C, NG_056297.1:g.129A>C +PA166197903 rs439401 NC_000019.10:44911194 1 0 0 0 0 61618476, NC_000019.9:g.45414451=, NG_012859.1:g.1531=, NC_000019.10:g.44911194T>C, NG_007084.2:g.10413T>C, 662210, NG_007084.2:g.10413=, rs439401, NC_000019.9:g.45414451T>C, 439401, NC_000019.10:g.44911194=, NG_012859.1:g.1531T>C +PA166195119 rs4395073 PA134953867 TUBB3 NC_000016.10:89936274 1 0 0 0 0 NC_000016.9:g.90002682C>G, NC_000016.10:g.89936274C>A, NG_027810.1:g.19266=, NG_027810.1:g.19266C>G, NC_000016.10:g.89936274=, NC_000016.9:g.90002682C>T, NC_000016.10:g.89936274C>T, NG_027810.1:g.19266C>A, NC_000016.9:g.90002682=, 4395073, rs4395073, NC_000016.10:g.89936274C>G, NG_027810.1:g.19266C>T, NC_000016.9:g.90002682C>A, 56892025 +PA166156398 rs4402960 PA128394577 IGF2BP2 NC_000003.12:185793899 3 1 0 0 0 NM_001291875.1:c.-106+27113C>A, NC_000003.11:g.185511687G>T, NG_011602.1:g.36141C>A, NM_001291872.1:c.50+27113C>A, XM_005247075.1:c.50+27113C>A, NC_000003.11:g.185511687=, XM_005247074.1:c.50+27113C>A, XM_011512339.1:c.239+29254C>A, rs4402960, NM_001291873.1:c.50+27113C>A, 4402960, XM_011512341.1:c.239+29254C>A, rs58419650, XM_005247073.1:c.50+27113C>A, NC_000003.12:g.185793899G>T, NC_000003.12:g.185793899=, NM_001291869.1:c.239+29254C>A, NM_006548.4:c.239+29254C>A, NM_001291874.1:c.50+27113C>A, XM_011512338.1:c.239+29254C>A, NG_011602.1:g.36141=, XR_427358.2:n.318+29254C>A, 58419650, NM_001007225.1:c.239+29254C>A +PA166160554 rs4406273 NC_000006.12:31298313 3 0 0 0 0 NC_000006.12:g.31298313=, 4406273, 17192540, rs4406273, 114816793, NC_000006.11:g.31266090G>A, NC_000006.12:g.31298313G>A, NC_000006.11:g.31266090= +PA166155727 rs4407290 PA37404 XDH NC_000002.12:31383804 2 0 0 0 0 NG_008871.1:g.35942C>T, NC_000002.12:g.31383804G>A, NG_008871.2:g.35942=, NP_000370.2:p.Val279=, NC_000002.11:g.31606670G>A, XM_011533096.1:c.837C>T, NM_000379.3:c.837C>T, rs17544440, NC_000002.12:g.31383804=, rs57766493, XM_011533095.1:c.837C>T, XP_011531398.1:p.Val279=, NG_008871.2:g.35942C>T, 17544440, 57766493, XP_011531397.1:p.Val279=, NG_008871.1:g.35942=, 4407290, NC_000002.11:g.31606670=, rs4407290 +PA166157390 rs4410790 PA24641 AHR NC_000007.14:17244953 2 1 0 0 0 NC_000007.14:g.17244953=, NC_000007.13:g.17284577=, NC_000007.14:g.17244953T>C, 59310321, rs59310321, 4410790, rs4410790, NC_000007.13:g.17284577T>C +PA166180030 rs4411417 PA28608 GCH1 NC_000014.9:54853845 1 0 0 0 0 NC_000014.9:g.54853845T>G, NG_008647.1:g.53980=, NC_000014.8:g.55320563T>G, NG_008647.1:g.53980A>G, rs4411417, 4411417, NC_000014.9:g.54853845=, NG_008647.1:g.53980A>C, NC_000014.8:g.55320563=, NC_000014.9:g.54853845T>C, NC_000014.8:g.55320563T>C +PA166155295 rs4411591 NC_000018.10:6550118 1 0 0 0 0 NC_000018.10:g.6550118C>T, NC_000018.9:g.6550117C>T, NC_000018.10:g.6550118=, NM_001243517.1:c.198-25872C>T, NR_120518.1:n.284-25872C>T, 4411591, NC_000018.9:g.6550117=, rs4411591 +PA166156586 rs4413407 PA134992016 CXXC4 NC_000004.12:104472204 1 1 0 0 0 NC_000004.11:g.105393361A>T, rs4413407, NC_000004.12:g.104472204A>G, 4413407, NC_000004.11:g.105393361A>G, NM_025212.3:c.*118T>C, NC_000004.11:g.105393361=, NC_000004.12:g.104472204A>T, XM_011532284.1:c.*118T>C, NC_000004.12:g.104472204=, NR_132741.1:n.440T>C +PA166160525 rs4420638 PA51 APOC1 NC_000019.10:44919689 1 0 0 0 0 41377151, 59077868, NC_000019.9:g.45422946=, NG_012859.1:g.10026=, 4420638, 56487544, NC_000019.10:g.44919689A>G, rs4420638, NG_012859.1:g.10026A>G, NC_000019.10:g.44919689=, NC_000019.9:g.45422946A>G +PA166155728 rs4426527 PA24633 AGXT NC_000002.12:240878099 1 0 0 0 0 NG_008005.1:g.14355A>G, NP_000021.1:p.Ile340=, NM_000030.2:c.1020A>G, NC_000002.11:g.241817516=, rs17501831, NC_000002.11:g.241817516A>G, NC_000002.12:g.240878099=, NG_008005.1:g.14355=, rs4426527, 4426527, NP_000021.1:p.Ile340Met, NC_000002.12:g.240878099A>G, 17501831 +PA166156733 rs442767 PA143,PA31134 DHFR,MSH3 NC_000005.10:80655677 4 2 0 0 0 NR_110936.1:n.-696C>A, NC_000005.9:g.79951496G>A, NG_016607.2:g.6203=, NG_016607.2:g.6203G>A, NM_001290357.1:c.-1188C>A, NG_016607.1:g.6203=, NC_000005.10:g.80655677G>A, NC_000005.9:g.79951496G>T, NM_002439.4:c.237+713G>T, NG_023304.1:g.4305C>T, rs36231429, NM_000791.3:c.-1188C>A, NG_016607.1:g.6203G>T, XM_005248456.1:c.-1294C>A, NM_001290354.1:c.-1294C>A, NG_023304.1:g.4305C>A, rs442767, NG_023304.1:g.4305=, NG_016607.1:g.6203G>A, 36231429, NC_000005.9:g.79951496=, NC_000005.10:g.80655677=, 442767, NG_016607.2:g.6203G>T, XM_005248455.1:c.-1645C>A, NC_000005.10:g.80655677G>T +PA166186121 rs4430924 NC_000002.12:61476721 1 1 0 0 0 NC_000002.12:g.61476721A>C, 74261665, NC_000002.11:g.61703856A>G, NC_000002.12:g.61476721A>G, NC_000002.12:g.61476721=, rs4430924, 4430924, NC_000002.11:g.61703856=, NC_000002.11:g.61703856A>C +PA166156587 rs4431170 PA134986392 MARCHF1 NC_000004.12:164363422 1 0 0 0 0 rs17676710, NC_000004.11:g.165284574A>G, NC_000004.12:g.164363422A>G, 4431170, rs57647707, rs4431170, 17676710, 57647707, NC_000004.12:g.164363422=, NM_001166373.1:c.-114+19765T>C, XM_011532056.1:c.-114+20448T>C, NC_000004.11:g.165284574=, XM_005263085.1:c.-323+20448T>C +PA166156827 rs4431329 PA134920563 FBXL17 NC_000005.10:108253257 1 1 0 0 0 XM_011543575.1:c.1507-29029T>A, XM_011543578.1:c.1507-29029T>A, NC_000005.9:g.107588958A>T, XM_005272049.1:c.1375-29029T>A, XM_005272048.1:c.1507-29029T>A, NC_000005.10:g.108253257A>T, XM_005272048.3:c.1507-29029T>A, XM_011543577.1:c.1507-29029T>A, XM_011543574.1:c.1507-29029T>A, NC_000005.9:g.107588958=, 4431329, NM_001163315.2:c.1507-29029T>A, NC_000005.10:g.108253257=, rs4431329, XM_011543576.1:c.1507-29029T>A +PA166185425 rs4432372 PA33329 PIP5K1C NC_000019.10:3698844 1 1 0 0 0 NG_012161.1:g.6604T>A, NG_012161.2:g.6604T>C, NC_000019.10:g.3698844=, rs4432372, 4432372, NC_000019.10:g.3698844A>G, 386593082, NG_012161.2:g.6604T>A, NC_000019.9:g.3698842A>T, NG_012161.1:g.6604T>C, NC_000019.9:g.3698842A>G, NG_012161.2:g.6604=, NC_000019.10:g.3698844A>T, NC_000019.9:g.3698842=, NG_012161.1:g.6604= +PA166154407 rs4436578 PA27478 DRD2 NC_000011.10:113436043 5 1 0 0 0 NG_008841.1:g.44237G>A, 58376220, NC_000011.10:g.113436043C>G, NC_000011.9:g.113306765C>T, NC_000011.9:g.113306765C>G, NC_000011.10:g.113436043C>T, NG_008841.1:g.44237=, NM_016574.3:c.-31-11361G>A, rs58376220, rs4436578, NC_000011.9:g.113306765=, XM_005271425.1:c.-31-11361G>A, 4436578, NG_008841.1:g.44237G>C, NM_000795.3:c.-31-11361G>A, NC_000011.10:g.113436043= +PA166179981 rs4437575 PA267 ABCB1 NC_000007.14:87510000 1 0 0 0 0 NG_011513.1:g.208249=, 59272607, NC_000007.14:g.87510000=, rs4437575, 4437575, NC_000007.14:g.87510000A>G, NC_000007.13:g.87139316A>G, NC_000007.13:g.87139316=, NG_011513.1:g.208249T>C +PA166177179 rs4437856 NC_000001.11:168681897 1 1 0 0 0 NC_000001.10:g.168651135=, 7416573, NC_000001.10:g.168651135A>C, NC_000001.11:g.168681897A>C, NC_000001.11:g.168681897=, 111855546, rs4437856, 4437856 +PA166179889 rs4439987 PA36302 TACR1 NC_000002.12:75059979 1 0 0 0 0 NC_000002.12:g.75059979=, NC_000002.11:g.75287106G>A, NG_029522.1:g.144540=, 17621977, NG_029522.1:g.144540C>T, NC_000002.12:g.75059979G>A, NC_000002.12:g.75059979G>T, NC_000002.11:g.75287106G>T, 60840196, NC_000002.11:g.75287106=, rs4439987, 4439987, NG_029522.1:g.144540C>A +PA166171161 rs4442551 PA28001,PA28580 FANCF,GAS2 NC_000011.10:22627297 1 0 0 0 0 NG_007425.1:g.3545T>C, 60371012, NC_000011.10:g.22627297=, rs4442551, NC_000011.9:g.22648843A>G, 4442551, NC_000011.10:g.22627297A>G, NC_000011.9:g.22648843=, NG_007425.1:g.3545= +PA166156588 rs4444903 PA27664 EGF NC_000004.12:109912954 5 1 0 0 0 NC_000004.12:g.109912954A>G, NG_011441.2:g.5071A>G, NM_001178131.2:c.-382A>G, NG_011441.2:g.5071A>C, NC_000004.11:g.110834110=, XM_005262798.2:c.-382A>G, 4444903, XM_005262797.2:c.-382A>G, rs4444903, XM_005262802.2:c.-382A>G, XM_005262802.1:c.-382A>G, XM_005262796.2:c.-382A>G, XM_005262801.1:c.-382A>G, NM_001178130.2:c.-382A>G, XM_005262800.1:c.-382A>G, XM_011531708.1:c.-382A>G, NC_000004.11:g.110834110A>C, NC_000004.12:g.109912954A>C, NC_000004.11:g.110834110A>G, XM_011531709.1:c.-382A>G, NG_011441.1:g.5071A>C, NG_011441.1:g.5071A>G, XM_006714124.2:c.-382A>G, XM_011531707.1:c.-632A>G, rs58193687, XM_005262799.1:c.-382A>G, NM_001963.5:c.-382A>G, XM_005262796.1:c.-382A>G, XM_005262801.2:c.-382A>G, NG_011441.1:g.5071=, XM_005262798.1:c.-382A>G, XR_938699.1:n.72A>G, XM_005262800.2:c.-382A>G, XM_005262797.1:c.-382A>G, NG_011441.2:g.5071=, NC_000004.12:g.109912954=, 58193687, XR_427532.2:n.72A>G +PA166283281 rs444904 PA134890823 PIK3R5 NC_000017.11:8900750 2 1 0 0 0 NG_030374.1:g.69963=, NC_000017.10:g.8804067C>A, 444904, rs444904, NC_000017.10:g.8804067=, NC_000017.10:g.8804067C>T, NC_000017.11:g.8900750C>A, NG_030374.1:g.69963G>T, NC_000017.11:g.8900750=, NC_000017.11:g.8900750C>T, NG_030374.1:g.69963G>A +PA166157101 rs4449636 PA356 TPMT NC_000006.12:18147788 1 0 0 0 0 4449636, NG_012137.2:g.12356C>T, rs4449636, NC_000006.12:g.18147788=, NC_000006.11:g.18148019G>T, NC_000006.12:g.18147788G>A, NC_000006.11:g.18148019=, NM_000367.3:c.233+35C>T, NG_012137.2:g.12356C>A, XM_011514839.1:c.233+35C>T, NG_012137.2:g.12356=, XM_011514840.1:c.164+35C>T, NC_000006.12:g.18147788G>T, NC_000006.11:g.18148019G>A +PA166157774 rs4451422 PA27785,PA167 ENG,FPGS NC_000009.12:127814318 1 0 0 0 0 NG_023245.1:g.16444=, NG_009551.1:g.45451=, NG_023245.1:g.16444A>C, XM_011518438.1:c.*714A>C, NG_009551.1:g.45451T>G, XM_011519273.1:c.-2261A>C, XM_011518439.1:c.*714A>C, NG_009551.1:g.45451T>C, XR_242581.1:n.2356A>C, NC_000009.12:g.127814318=, XR_242582.2:n.1491A>C, NM_001018078.2:c.*714A>C, rs4451422, XM_011518437.1:c.*714A>C, 4451422, NM_001288803.1:c.*714A>C, NG_023245.1:g.16444A>G, NC_000009.11:g.130576597A>C, NR_110170.1:n.2526A>C, XM_005251864.2:c.*91A>C, NC_000009.11:g.130576597=, NC_000009.11:g.130576597A>G, XM_005251863.1:c.*714A>C, XM_005251865.1:c.*714A>C, NC_000009.12:g.127814318A>C, NC_000009.12:g.127814318A>G, XR_242581.2:n.2375A>C, rs57484472, XM_005251864.1:c.*91A>C, NM_004957.5:c.*714A>C, XR_242582.1:n.1472A>C, 57484472 +PA166178588 rs4455491 PA361 UGT2B7 NC_000004.12:69095215 1 0 0 0 0 NC_000004.12:g.69095215=, NC_000004.11:g.69960933=, NC_000004.11:g.69960933A>G, NC_000004.12:g.69095215A>C, NC_000004.11:g.69960933A>C, NC_000004.12:g.69095215A>G, rs4455491, 4455491 +PA166155352 rs445925 PA51,PA55 APOC1,APOE NC_000019.10:44912383 2 1 0 0 0 487804, NC_000019.10:g.44912383=, XM_005258855.2:c.-2189G>A, rs445925, rs116971620, rs386593216, 116971620, NC_000019.10:g.44912383G>C, NC_000019.9:g.45415640=, 445925, NC_000019.10:g.44912383G>A, rs487804, NG_012859.1:g.2720=, XM_005258855.1:c.-2189G>A, NC_000019.9:g.45415640G>A, 386593216, NG_012859.1:g.2720G>C, NG_012859.1:g.2720G>A, NC_000019.9:g.45415640G>C +PA166155221 rs4459610 NC_000017.11:63507359 1 1 0 0 0 rs60836367, NG_016186.1:g.426A>T, 60836367, rs58805711, 4459610, NC_000017.10:g.61584720A>T, rs4459610, NG_016186.1:g.426=, NC_000017.10:g.61584720=, 58805711, NC_000017.11:g.63507359=, NC_000017.11:g.63507359A>T +PA166154408 rs4460839 PA27478,PA165543477 DRD2,MIR4301 NC_000011.10:113451074 1 1 0 0 0 NC_000011.10:g.113451074C>T, NR_036183.1:n.-986G>A, 57196249, NM_016574.3:c.-32+24002G>A, NC_000011.9:g.113321796C>G, NG_008841.1:g.29206G>C, NG_008841.1:g.29206G>A, XM_005271425.1:c.-32+24584G>A, 4460839, rs57196249, rs4460839, NC_000011.9:g.113321796=, NG_008841.1:g.29206=, NC_000011.9:g.113321796C>T, NC_000011.10:g.113451074=, NC_000011.10:g.113451074C>G, NM_000795.3:c.-32+24002G>A +PA166155909 rs446112 NC_000020.11:46448270 2 1 0 0 0 rs60073445, 60073445, NC_000020.11:g.46448270=, NC_000020.11:g.46448270A>G, NC_000020.10:g.45076909A>C, rs446112, NC_000020.10:g.45076909=, NC_000020.10:g.45076909A>G, NC_000020.11:g.46448270A>C, 446112 +PA166170016 rs4462560 PA30576,PA164722927,PA38334 MAN2C1,MIR631,NEIL1 NC_000015.10:75355623 1 0 0 0 0 rs4462560, 4462560, NC_000015.10:g.75355623=, NC_000015.10:g.75355623G>C, NC_000015.9:g.75647964G>C, NC_000015.10:g.75355623G>T, NC_000015.9:g.75647964G>T, NC_000015.10:g.75355623G>A, NC_000015.9:g.75647964G>A, NC_000015.9:g.75647964= +PA166265701 rs4471527 NC_000012.12:131623246 1 0 0 0 0 rs4471527, NC_000012.11:g.132107791T>C, NC_000012.12:g.131623246T>C, NC_000012.12:g.131623246T>A, 60507530, NC_000012.12:g.131623246=, NC_000012.11:g.132107791=, 10902532, NC_000012.11:g.132107791T>A, 4471527 +PA166170629 rs4476990 NC_000008.11:74566177 2 0 0 0 0 rs4476990, 4476990, NC_000008.10:g.75478412T>G, NC_000008.11:g.74566177T>G, NC_000008.11:g.74566177T>A, 57177268, 6472864, NC_000008.10:g.75478412=, NC_000008.11:g.74566177T>C, NC_000008.10:g.75478412T>A, NC_000008.11:g.74566177=, NC_000008.10:g.75478412T>C +PA166258302 rs4481796 PA28498 GABRD NC_000001.11:2017366 1 0 0 0 0 NG_008168.1:g.3038T>A, NG_008168.1:g.3038T>C, NC_000001.11:g.2017366T>A, rs4481796, 4481796, NC_000001.10:g.1948805T>C, NC_000001.11:g.2017366T>C, NC_000001.10:g.1948805T>A, NG_008168.1:g.3038=, 59229920, NC_000001.11:g.2017366=, NC_000001.10:g.1948805= +PA166155296 rs4483927 PA134982275 HRH4 NC_000018.10:24464436 2 1 0 0 0 XM_011526134.1:c.193+3515G>T, NC_000018.10:g.24464436=, NM_021624.3:c.193+3515G>T, NC_000018.10:g.24464436G>A, NC_000018.10:g.24464436G>T, NC_000018.9:g.22044400G>A, NM_001143828.1:c.193+3515G>T, 60580508, NC_000018.9:g.22044400=, 4483927, rs4483927, rs60580508, NM_001160166.1:c.193+3515G>T, XM_011526133.1:c.193+3515G>T, NC_000018.9:g.22044400G>T +PA166153766 rs4492666 PA162382539 CMPK1 NC_000001.11:47335173 2 1 0 0 0 NC_000001.11:g.47335173=, NM_016308.2:c.171+1057A>C, NC_000001.11:g.47335173A>C, NC_000001.10:g.47800845=, rs4492666, 4492666, rs61400292, NC_000001.10:g.47800845A>C, NM_001136140.1:c.171+1057A>C, 61400292, NR_046395.1:n.320+1057A>C, NC_000001.11:g.47335173A>T, NR_046394.1:n.320+1057A>C, NC_000001.10:g.47800845A>T +PA166191041 rs449647 PA55 APOE NC_000019.10:44905307 1 0 0 0 0 NC_000019.9:g.45408564=, NC_000019.10:g.44905307=, rs449647, NG_007084.2:g.4526=, 665261, APOE-491A/T [PMID:28900374], 449647, NC_000019.9:g.45408564A>T, NG_042854.1:g.19088A>T, 1081104, NG_042854.1:g.19088=, NC_000019.10:g.44905307A>T, NG_007084.2:g.4526A>T +PA166155064 rs4502225 PA37398 WWOX NC_000016.10:78390934 1 0 0 0 0 NC_000016.9:g.78424831=, XM_011523101.1:c.605+3986T>C, NC_000016.10:g.78390934=, XM_005255981.1:c.266+3986T>C, XR_243411.1:n.730+3986T>C, XM_005255982.1:c.516+226645T>C, XM_011523100.1:c.605+3986T>C, XM_011523103.1:c.605+3986T>C, rs4502225, 4502225, XM_006721195.2:c.605+3986T>C, NC_000016.9:g.78424831T>C, XM_011523102.1:c.605+3986T>C, NG_011698.1:g.296281T>C, NM_001291997.1:c.266+3986T>C, NG_011698.1:g.296281T>A, NM_016373.3:c.605+3986T>C, XM_011523104.1:c.605+3986T>C, rs60064696, NC_000016.9:g.78424831T>A, NC_000016.10:g.78390934T>C, 60064696, NG_011698.1:g.296281=, NC_000016.10:g.78390934T>A, XM_005255980.1:c.409+275780T>C +PA166181113 rs4505744 PA26013 CACNA2D3 NC_000003.12:54220102 1 0 0 0 0 NC_000003.12:g.54220102G>A, rs4505744, 386593462, 4505744, NC_000003.12:g.54220102=, NC_000003.11:g.54254129=, 60486870, NC_000003.11:g.54254129G>A +PA166154056 rs4506565 PA36394 TCF7L2 NC_000010.11:112996282 2 1 0 0 0 XM_005270103.1:c.382-43743A>T, XM_005270073.1:c.450+31658A>T, XM_005270100.1:c.450+31658A>T, XM_011540113.1:c.450+31658A>T, 56431640, XM_005270082.1:c.450+31658A>T, NM_001198529.1:c.382-43743A>T, XM_005270072.1:c.450+31658A>T, NM_001198528.1:c.382-43743A>T, XM_011540114.1:c.450+31658A>T, NC_000010.11:g.112996282A>T, XM_005270075.1:c.450+31658A>T, NC_000010.11:g.112996282A>G, XM_005270091.1:c.450+31658A>T, NM_001198527.1:c.382-43743A>T, XM_011540117.1:c.450+31658A>T, NC_000010.11:g.112996282=, NG_012631.1:g.51033A>G, XM_011540115.1:c.450+31658A>T, NM_030756.4:c.382-43743A>T, XM_005270104.1:c.382-43743A>T, NM_001146284.1:c.382-43743A>T, XM_005270087.1:c.382-43743A>T, XM_005270102.1:c.450+31658A>T, XM_005270096.1:c.450+31658A>T, XM_005270101.1:c.382-43743A>T, XM_011540112.1:c.450+31658A>T, XM_005270083.1:c.450+31658A>T, XM_005270091.2:c.450+31658A>T, XM_011540111.1:c.382-43743A>T, rs4506565, NG_012631.1:g.51033A>T, NM_001146274.1:c.450+31658A>T, NM_001198525.1:c.382-43743A>T, rs56431640, NM_001146285.1:c.382-43743A>T, NM_001198531.1:c.450+31658A>T, XM_005270078.1:c.450+31658A>T, XM_005270088.1:c.382-43743A>T, XM_011540119.1:c.450+31658A>T, XM_005270095.1:c.450+31658A>T, rs57061879, XM_005270093.1:c.450+31658A>T, NC_000010.10:g.114756041=, NM_001146286.1:c.382-43743A>T, XM_005270080.1:c.382-43743A>T, NM_001198530.1:c.381+44675A>T, XM_005270076.1:c.450+31658A>T, XM_005270085.1:c.450+31658A>T, XM_011540109.1:c.450+31658A>T, XM_011540118.1:c.450+31658A>T, NC_000010.10:g.114756041A>G, XM_005270077.1:c.450+31658A>T, XM_005270089.1:c.382-43743A>T, rs61174005, XM_005270094.1:c.450+31658A>T, XM_005270086.1:c.382-43743A>T, XM_005270090.1:c.381+44675A>T, XM_005270081.1:c.382-43743A>T, NM_001146283.1:c.382-43743A>T, XM_005270084.1:c.450+31658A>T, NC_000010.10:g.114756041A>T, XM_011540110.1:c.382-43743A>T, NG_012631.1:g.51033=, 61174005, XM_005270074.1:c.450+31658A>T, NM_001198526.1:c.382-43743A>T, XM_005270071.1:c.450+31658A>T, XM_006717956.2:c.-10+31658A>T, XM_005270092.1:c.450+31658A>T, 57061879, XM_005270079.1:c.450+31658A>T, XM_011540116.1:c.450+31658A>T, 4506565 +PA166181823 rs450789 NC_000013.11:33004095 1 0 0 0 0 NC_000013.10:g.33578233=, 1334929, NC_000013.11:g.33004095A>C, NC_000013.10:g.33578233A>G, 450789, NC_000013.10:g.33578233A>T, NC_000013.10:g.33578233A>C, rs450789, NC_000013.11:g.33004095=, NC_000013.11:g.33004095A>T, NC_000013.11:g.33004095A>G +PA166154591 rs4512905 PA35009 SCN8A NC_000012.12:51657346 1 0 0 0 0 NC_000012.11:g.52051130T>C, NG_021180.2:g.71111=, 4512905, rs4512905, NM_001177984.2:c.-54-5418T>C, rs56447292, XM_011538650.1:c.-54-5418T>C, NC_000012.11:g.52051130T>A, NC_000012.12:g.51657346T>A, NG_021180.3:g.72389T>C, NC_000012.12:g.51657346T>C, NM_014191.3:c.-54-5418T>C, NG_021180.3:g.72389T>A, NG_021180.2:g.71111T>A, NG_021180.2:g.71111T>C, rs61313746, 56447292, XM_005269075.1:c.-54-5418T>C, XM_011538651.1:c.-54-5418T>C, NG_021180.3:g.72389=, NC_000012.12:g.51657346=, XM_006719556.2:c.-54-5418T>C, 61313746, NC_000012.11:g.52051130= +PA166264402 rs4513095 PA107 CES1 NC_000016.10:55819534 1 0 0 0 0 NG_012057.1:g.18630G>T, NC_000016.10:g.55819534=, NC_000016.9:g.55853446C>A, 4513095, rs4513095, NC_000016.10:g.55819534C>A, NG_012057.1:g.18630=, NC_000016.9:g.55853446=, 72487907, 56154992 +PA166154592 rs4516035 PA37301 VDR NC_000012.12:47906043 1 1 0 0 0 17882742, NC_000012.11:g.48299826=, rs58063668, NG_008731.1:g.3989A>G, rs4516035, rs17396597, 4516035, NG_008731.1:g.3989=, rs17882742, NM_000376.2:c.-1172A>G, NC_000012.12:g.47906043=, NC_000012.12:g.47906043T>C, NM_001017535.1:c.-1294A>G, NM_001017536.1:c.-1413A>G, 58063668, NC_000012.11:g.48299826T>C, XM_006719587.2:c.-1091A>G, XM_011538720.1:c.-1213A>G, 17396597 +PA166156918 rs451774 PA28953 GPX5 NC_000006.12:28534773 1 1 0 0 0 NC_000006.11:g.28502550A>G, NM_001509.2:c.*606A>G, NT_113891.2:g.24754A>G, NT_113891.3:g.24654A>G, NG_047054.1:g.13762=, 60258350, NC_000006.12:g.28534773A>G, rs118080793, XM_011514528.1:c.*606A>G, XM_011514527.1:c.*606A>G, XM_011547234.1:c.*606A>G, rs60258350, XM_011547233.1:c.*606A>G, XM_011547235.1:c.*606A>G, 115878751, NG_047054.1:g.13762A>G, NC_000006.12:g.28534773=, 118080793, XM_011547236.1:c.*606A>G, NC_000006.11:g.28502550=, XM_011514529.1:c.*606A>G, NM_003996.3:c.*851A>G, rs115878751, rs451774, 451774, XM_011514530.1:c.*606A>G +PA166154250 rs4520 PA53 APOC3 NC_000011.10:116830819 2 0 0 0 0 61905138, rs3168250, 3168250, NC_000011.10:g.116830819=, NC_000011.9:g.116701535T>C, 4520, NG_008949.1:g.5912=, rs734105, NC_000011.9:g.116701535=, 17251277, rs61905138, NM_000040.1:c.102T>C, rs4520, NP_000031.1:p.Gly34=, rs1049040, NC_000011.10:g.116830819T>C, NG_008949.1:g.5912T>C, 1049040, rs17251277, 734105 +PA166184192 rs4522461 PA60 ARRB2 NC_000017.11:4718478 2 0 0 0 0 rs4522461, 12944476, NC_000017.11:g.4718478=, 4522461, 17765009, NC_000017.10:g.4621773T>G, 56853163, 34755954, NC_000017.11:g.4718478T>G, NC_000017.10:g.4621773= +PA166155338 rs4523 PA348 TBXA2R NC_000019.10:3595796 2 1 0 0 0 NG_013363.1:g.16038T>C, XM_011528214.1:c.924T>C, rs57239889, NP_963998.2:p.Tyr308=, NM_001060.5:c.924T>C, NC_000019.9:g.3595794=, NM_201636.2:c.924T>C, rs117734775, 57239889, NC_000019.10:g.3595796=, NC_000019.10:g.3595796A>G, rs4523, NG_013363.1:g.16038=, NP_001051.1:p.Tyr308=, 4523, NC_000019.9:g.3595794A>G, XP_011526516.1:p.Tyr308=, 117734775 +PA166232821 rs4524 PA159 F5 NC_000001.11:169542517 1 0 0 0 0 NG_011806.1:g.49015=, 52817149, NC_000001.11:g.169542517=, NP_000121.2:p.Lys858Arg, NC_000001.10:g.169511755T>C, NP_000121.2:p.Lys858=, rs4524, 386593571, NC_000001.10:g.169511755=, 59950571, 4524, NG_011806.1:g.49015A>G, NC_000001.11:g.169542517T>C +PA166160215 rs4525537 PA26874 CRHR1 NC_000017.11:45835357 1 0 0 0 0 17690105, NC_000017.10:g.43912723T>C, NG_009902.1:g.56096=, 143731171, NG_009902.1:g.56096T>C, 113671262, NC_000017.11:g.45835357=, rs4525537, NC_000017.11:g.45835357T>C, 4525537, NC_000017.10:g.43912723= +PA166235850 rs4530637 NC_000004.12:103585232 1 1 0 0 0 rs4530637, NC_000004.12:g.103585232A>T, NC_000004.11:g.104506389A>C, NC_000004.12:g.103585232A>G, NC_000004.11:g.104506389A>T, NC_000004.11:g.104506389A>G, 4530637, NC_000004.12:g.103585232A>C, NC_000004.12:g.103585232=, 17787720, NC_000004.11:g.104506389= +PA166156706 rs4532 PA147 DRD1 NC_000005.10:175443147 12 3 0 0 0 rs61505681, NC_000005.9:g.174870150C>G, 265980, NG_011802.1:g.6014G>C, rs1310294, NC_000005.10:g.175443147C>G, NG_011802.1:g.6014=, NC_000005.9:g.174870150=, 1310294, 61505681, rs4532, NM_000794.3:c.-48G>A, rs265980, 4532, NC_000005.10:g.175443147C>T, NG_011802.1:g.6014G>A, NC_000005.10:g.175443147=, NC_000005.9:g.174870150C>T +PA166159081 rs453359 NC_000002.12:13276533 1 0 0 0 0 NC_000002.12:g.13276533A>T, NC_000002.12:g.13276533A>C, NC_000002.11:g.13416658A>G, 17382954, NC_000002.12:g.13276533A>G, rs453359, NC_000002.11:g.13416658A>C, 453359, NC_000002.11:g.13416658A>T, NC_000002.12:g.13276533=, NC_000002.11:g.13416658= +PA166156399 rs4533622 PA27013 CTNNB1 NC_000003.12:41200847 2 1 0 0 0 XM_005264887.1:c.-49+5141C>A, NG_013302.2:g.6397C>A, NC_000003.12:g.41200847=, NC_000003.12:g.41200847C>T, NC_000003.11:g.41242338C>T, NG_013302.2:g.6397=, 17252491, NG_013302.1:g.6397C>A, NM_001904.3:c.-49+1177C>A, rs4533622, XM_006712985.1:c.-49+1177C>A, XM_005264888.1:c.-61+1040C>A, 4533622, NC_000003.11:g.41242338C>A, NC_000003.12:g.41200847C>A, NM_001098210.1:c.-49+1177C>A, XM_005264886.2:c.-49+466C>A, XM_005264886.1:c.-49+466C>A, rs17252491, 13074255, rs13074255, NM_001098209.1:c.-49+1177C>A, NC_000003.11:g.41242338=, NG_013302.2:g.6397C>T +PA166321922 rs4537545 PA29835 IL6R NC_000001.11:154446403 1 0 0 0 0 NG_012087.1:g.46211C>T, NC_000001.11:g.154446403C>T, NC_000001.11:g.154446403=, NC_000001.10:g.154418879=, 56541967, 61417430, NC_000001.10:g.154418879C>T, 4537545, rs4537545, NG_012087.1:g.46211= +PA166155222 rs4541111 PA25196 AXIN2 NC_000017.11:65538420 1 1 0 0 0 XM_005257719.1:c.1060-77G>T, NC_000017.10:g.63534538=, XM_005257717.1:c.1060-77G>T, NC_000017.10:g.63534538C>A, NG_012142.1:g.28203G>T, NC_000017.11:g.65538420C>A, XM_011525322.1:c.1060-77G>T, XM_011525320.1:c.1060-77G>T, rs59628788, XM_005257718.1:c.1060-77G>T, XM_005257716.1:c.1060-77G>T, NC_000017.11:g.65538420=, rs4541111, XM_011525319.1:c.1060-77G>T, 4541111, NG_012142.1:g.28203=, NM_004655.3:c.1060-77G>T, 59628788, XM_011525321.1:c.1060-77G>T +PA166163267 rs45442092 PA37404 XDH NC_000002.12:31372264 1 0 0 0 0 NC_000002.11:g.31595130C>G, NC_000002.12:g.31372264=, NC_000002.12:g.31372264C>T, NC_000002.11:g.31595130C>T, NG_008871.2:g.47482G>A, 45442092, NG_008871.2:g.47482G>C, rs45442092, NP_000370.2:p.Arg607Pro, NC_000002.11:g.31595130=, NP_000370.2:p.Arg607Gln, NG_008871.2:g.47482=, NG_008871.1:g.47482=, NG_008871.1:g.47482G>A, NP_000370.2:p.Arg607=, NC_000002.12:g.31372264C>G, NG_008871.1:g.47482G>C +PA166155331 rs45445694 PA134956204,PA359 C18orf56,TYMS NC_000018.10:657646_657712 93 7 0 0 1 NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[8], NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[7], NC_000018.9:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NG_028255.1:g.5043_5109=, NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[1], NC_000018.9:g.657646_657712=, NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[4], NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[3], TSER, NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[7], NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[1], NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[3], XM_005258137.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.10:g.657657_657712del, NC_000018.10:g.657646_657712=, NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[9], NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[9], NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[4], XM_005258138.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[7], 45445694, NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[1], NC_000018.9:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[3], NM_001071.2:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[8], NG_028255.1:g.5054_5109del, NG_028255.1:g.5043_5070CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[4], rs45445694, NC_000018.10:g.657657GGCCTGCCTCCGTCCCGCCGCGCCACTT[9], NC_000018.9:g.657657_657712del, NG_028255.1:g.5054GGCCTGCCTCCGTCCCGCCGCGCCACTT[8], NM_001012716.2:c.*34+169_*34+196CGGGACGGAGGCAGGCCAAGTGGCGCGG[2][3][4][7][8][9] +PA166213621 rs45446698 PA122,PA134962723 CYP3A7,ZSCAN25 NC_000007.14:99735325 6 1 1 0 0 NC_000007.13:g.99332948T>G, NC_000007.14:g.99735325=, NC_000007.13:g.99332948=, NG_007983.1:g.4874A>C, 45446698, NC_000007.14:g.99735325T>G, rs45446698, NG_055449.1:g.333T>G, NG_007983.1:g.4874=, NG_055449.1:g.333= +PA166177542 rs45460698 PA29556 HTR3B NC_000011.10:113904832 2 0 0 0 0 NC_000011.10:g.113904830_113904834=, NC_000011.10:g.113904832_113904834del, NC_000011.9:g.113775552_113775556=, NG_011483.1:g.4966_4968del, NC_000011.9:g.113775554_113775556dup, NG_011483.1:g.4964_4968=, 45460698, rs45460698, NG_011483.1:g.4966_4968dup, NC_000011.9:g.113775554_113775556del, NC_000011.10:g.113904832_113904834dup +PA166250525 rs45467892 PA122,PA134962723 CYP3A7,ZSCAN25 NC_000007.14:99735374 5 1 1 0 0 NG_055449.1:g.382T>A, NC_000007.14:g.99735374T>A, rs45467892, NC_000007.13:g.99332997T>A, NG_007983.1:g.4825=, NC_000007.14:g.99735374=, NG_007983.1:g.4825A>T, NG_055449.1:g.382=, 45467892, NC_000007.13:g.99332997= +PA166185165 rs45476395 PA176 GNB3 NC_000012.12:6843936 1 0 0 0 0 NC_000012.12:g.6843936=, NG_009100.2:g.8726T>A, NC_000012.11:g.6953100T>A, NG_009100.1:g.8726=, NG_009100.1:g.8726T>A, NP_002066.1:p.Arg219=, rs45476395, NC_000012.12:g.6843936T>A, NG_009100.2:g.8726=, 45476395, NC_000012.11:g.6953100= +PA166303401 rs4548 PA162400619 RAB7A NC_000003.12:128806410 1 0 0 0 0 NC_000003.12:g.128806410=, 1049578, NC_000003.12:g.128806410C>A, 17322502, NC_000003.11:g.128525253C>T, NG_008070.1:g.85275C>A, NC_000003.11:g.128525253C>A, 11549749, rs4548, NG_008070.1:g.85275=, NC_000003.11:g.128525253=, NC_000003.12:g.128806410C>T, 1801498, NG_008070.1:g.85275C>T, 3189760, 4548, 17353098, NP_004628.4:p.Leu73= +PA166155505 rs45482602 PA123 CYP2B6 NC_000019.10:41009350 1 0 0 0 0 NC_000019.10:g.41009350C>T, NM_000767.4:c.777C>A, NC_000019.9:g.41515255=, XM_005258569.3:c.777C>A, XP_011524848.1:p.Ser259Arg, rs45482602, XM_005258570.1:c.777C>A, XP_011524851.1:p.Ser62Arg, 60810954, 45482602, XM_005258571.1:c.365-2948C>A, XM_011526546.1:c.777C>A, XP_005258627.1:p.Ser259Arg, XM_011526548.1:c.485-2948C>A, NC_000019.9:g.41515255C>A, NP_000758.1:p.Ser259Arg, XM_006723050.2:c.777C>A, XM_011526549.1:c.186C>A, NG_007929.1:g.23052=, NG_007929.1:g.23052C>T, rs60810954, NC_000019.10:g.41009350C>A, XP_006723113.1:p.Ser259Arg, XM_011526547.1:c.777C>A, NC_000019.9:g.41515255C>T, XM_011526550.1:c.365-2948C>A, XP_011524849.1:p.Ser259Arg, NC_000019.10:g.41009350=, XM_005258569.1:c.777C>A, XP_005258626.1:p.Ser259Arg, NG_007929.1:g.23052C>A, NP_000758.1:p.Ser259= +PA166250523 rs45494802 PA122,PA134962723 CYP3A7,ZSCAN25 NC_000007.14:99735377 5 1 1 0 0 NC_000007.14:g.99735377A>T, NG_007983.1:g.4822=, 45494802, NG_007983.1:g.4822T>A, NC_000007.13:g.99333000A>T, NG_055449.1:g.385=, rs45494802, NC_000007.13:g.99333000=, NC_000007.14:g.99735377=, NG_055449.1:g.385A>T +PA166182328 rs45499402 PA390 ABCG2 NC_000004.12:88122482 1 0 0 0 0 45499402, NC_000004.11:g.89043634=, NC_000004.12:g.88122482G>T, NC_000004.12:g.88122482=, NC_000004.12:g.88122482G>A, NC_000004.11:g.89043634G>T, NC_000004.12:g.88122482G>C, NG_032067.2:g.113841=, NG_032067.2:g.113841C>G, NG_032067.2:g.113841C>A, rs45499402, NC_000004.11:g.89043634G>C, NG_032067.2:g.113841C>T, NC_000004.11:g.89043634G>A +PA166154649 rs45502302 PA328 SLCO1A2 NC_000012.12:21306920 1 0 0 0 0 XP_005253535.1:p.Asn133Ile, NC_000012.12:g.21306920T>A, XP_011519120.1:p.Asn135Ile, NC_000012.11:g.21459854T>A, 52822017, NP_066580.1:p.Asn135Ile, XM_005253477.2:c.344A>T, 45502302, XM_005253474.1:c.404A>T, rs52822017, XP_005253531.1:p.Asn135Ile, NP_602307.1:p.Asn135=, XM_005253478.1:c.398A>T, XP_011519122.1:p.Asn133Ile, XP_005253534.1:p.Asn115Ile, XM_011520819.1:c.404A>T, XP_005253533.1:p.Asn135Ile, XM_005253477.1:c.344A>T, NC_000012.12:g.21306920=, NM_021094.3:c.404A>T, rs45502302, NP_602307.1:p.Asn135Ile, XM_005253476.1:c.404A>T, XM_011520818.1:c.404A>T, XP_005253532.1:p.Asn135Ile, XM_005253475.1:c.404A>T, NM_134431.3:c.404A>T, XP_011519121.1:p.Asn135Ile, NC_000012.11:g.21459854=, XM_005253474.3:c.404A>T, XM_011520820.1:c.398A>T +PA166155729 rs4550690 PA30612 MAP4K4 NC_000002.12:101806532 1 1 0 0 0 XM_011512202.1:c.180+15756T>C, XM_005264047.3:c.180+15756T>C, XM_005264049.1:c.180+15756T>C, XM_005264057.1:c.180+15756T>C, XM_005264069.2:c.180+15756T>C, XM_005264064.3:c.180+15756T>C, XM_005264066.1:c.180+15756T>C, NM_001242560.1:c.180+15756T>C, NM_145687.3:c.180+15756T>C, XM_005264058.1:c.180+15756T>C, XM_005264061.1:c.120+9149T>C, XM_006712865.2:c.180+15756T>C, XM_005264062.3:c.180+15756T>C, XM_005264064.1:c.180+15756T>C, XM_005264065.3:c.180+15756T>C, XM_005264067.1:c.180+15756T>C, XM_011512204.1:c.159+9149T>C, NM_145686.3:c.180+15756T>C, XM_005264057.3:c.180+15756T>C, XM_005264059.1:c.180+15756T>C, XM_005264072.1:c.180+15756T>C, XM_005264053.3:c.180+15756T>C, XM_005264055.1:c.180+15756T>C, XM_011512201.1:c.159+9149T>C, XM_005264066.3:c.180+15756T>C, XM_005264068.1:c.180+15756T>C, NC_000002.11:g.102422994T>C, XM_005264058.3:c.180+15756T>C, XM_005264060.3:c.180+15756T>C, XM_005264062.1:c.180+15756T>C, XM_005264045.3:c.180+15756T>C, XM_005264047.1:c.180+15756T>C, XM_006712867.2:c.180+15756T>C, XM_005264055.2:c.180+15756T>C, XM_005264070.1:c.180+15756T>C, XM_005264063.3:c.180+15756T>C, XM_005264065.1:c.180+15756T>C, XM_006712866.2:c.120+9149T>C, XM_005264044.1:c.180+15756T>C, XM_005264048.2:c.180+15756T>C, XM_006712869.2:c.180+15756T>C, XM_005264056.2:c.180+15756T>C, XM_005264050.3:c.180+15756T>C, XM_005264052.1:c.180+15756T>C, NC_000002.12:g.101806532=, XM_005264068.3:c.180+15756T>C, rs4550690, 4550690, XM_005264060.1:c.180+15756T>C, XM_005264045.1:c.180+15756T>C, XM_005264051.1:c.180+15756T>C, XM_005264052.3:c.180+15756T>C, XM_005264054.1:c.180+15756T>C, XM_005264071.2:c.180+15756T>C, XM_011512205.1:c.180+15756T>C, XM_005264044.3:c.180+15756T>C, XM_005264046.1:c.180+15756T>C, XM_005264063.1:c.180+15756T>C, XM_005264050.1:c.180+15756T>C, NM_001242559.1:c.180+15756T>C, XM_005264049.3:c.180+15756T>C, XM_005264071.1:c.180+15756T>C, XM_005264054.3:c.180+15756T>C, XM_005264056.1:c.180+15756T>C, XM_011512203.1:c.180+15756T>C, XM_005264069.1:c.180+15756T>C, XM_005264053.1:c.180+15756T>C, NC_000002.12:g.101806532T>C, NM_004834.4:c.180+15756T>C, XM_005264046.3:c.180+15756T>C, XM_005264048.1:c.180+15756T>C, XM_006712868.2:c.180+15756T>C, NC_000002.11:g.102422994=, XM_005264059.3:c.180+15756T>C +PA166156828 rs4551053 PA162384225 EBF1 NC_000005.10:158411534 1 0 0 0 0 NR_109888.1:n.-1761C>T, rs4551053, 4551053, NC_000005.10:g.158411534=, NC_000005.9:g.157838542G>A, NC_000005.10:g.158411534G>A, NC_000005.9:g.157838542= +PA166155130 rs45511401 PA244 ABCC1 NC_000016.10:16079375 2 1 0 0 0 XP_005255384.1:p.Gly629Val, rs61731703, NP_004987.2:p.Gly671Val, NG_028268.1:g.134799=, 61731703, rs45511401, NG_028268.2:g.134799G>T, NG_028268.1:g.134799G>T, XM_005255328.1:c.1874G>T, XP_005255386.1:p.Gly671Val, XM_005255327.1:c.1886G>T, 45511401, NC_000016.10:g.16079375G>T, NG_028268.2:g.134799=, NP_004987.2:p.Gly671=, NC_000016.10:g.16079375=, NT_187607.1:g.1737227G>T, NM_004996.3:c.2012G>T, XM_011522497.1:c.1988G>T, XP_005255383.1:p.Gly671Val, XP_011520799.1:p.Gly663Val, NC_000016.9:g.16173232G>T, XM_005255329.1:c.2012G>T, XP_005255385.1:p.Gly625Val, NC_000016.9:g.16173232=, XM_011522498.1:c.1919G>T, XP_011520800.1:p.Gly640Val, XM_005255326.1:c.2012G>T +PA166303081 rs4553122 PA142672448 NCMAP NC_000001.11:24601070 1 0 0 0 0 59648750, 4553122, 57477226, 56516017, NC_000001.10:g.24927561T>C, rs4553122, NC_000001.11:g.24601070T>C, NC_000001.10:g.24927561=, NC_000001.11:g.24601070= +PA166155730 rs4553808 PA27006 CTLA4 NC_000002.12:203866282 4 2 0 0 0 NC_000002.11:g.204731005A>T, NG_011502.1:g.3497A>T, NC_000002.12:g.203866282A>T, rs61636940, 61636940, NG_011502.1:g.3497=, NM_005214.4:c.-1661A>G, NC_000002.12:g.203866282=, NC_000002.11:g.204731005A>G, XR_241294.1:n.-1521A>G, NM_001037631.2:c.-1661A>G, NC_000002.11:g.204731005=, NC_000002.12:g.203866282A>G, 4553808, rs4553808, NG_011502.1:g.3497A>G +PA166156589 rs4554144 PA361 UGT2B7 NC_000004.12:69094837 1 1 0 0 0 6600881, NC_000004.12:g.69094837C>T, rs6600881, NC_000004.12:g.69094837=, NC_000004.11:g.69960555C>T, rs4554144, XM_011532230.1:c.-1684C>T, 4554144, XM_005265702.1:c.-26-3703C>T, NC_000004.11:g.69960555=, NM_001074.2:c.-1684C>T, XM_011532229.1:c.-1684C>T, XM_005265702.2:c.-26-3703C>T, XM_011532231.1:c.-26-3703C>T +PA166196763 rs45545233 PA35895 SLC4A1 NC_000017.11:44260984 1 1 0 0 0 45545233, NG_007498.1:g.12151A>G, 59790471, NG_007498.1:g.12151=, NC_000017.11:g.44260984T>C, NC_000017.10:g.42338352T>C, NC_000017.11:g.44260984=, rs45545233, NC_000017.10:g.42338352= +PA166154948 rs45564134 PA27093 CYP1A2 NC_000015.10:74756062 1 0 0 0 0 NG_008431.2:g.38521=, NM_000761.4:c.*974delG, NC_000015.10:g.74756062=, NG_061543.1:g.12218=, 45564134, NG_061543.1:g.12218del, NG_008431.1:g.38521delG, NC_000015.9:g.75048403=, NC_000015.10:g.74756062del, NM_000761.3:c.*974delG, NC_000015.10:g.74756062delG, rs45564134, NC_000015.9:g.75048403delG, NG_008431.2:g.38521del, NC_000015.9:g.75048403del +PA166156590 rs4557343 PA360 UGT2B4 NC_000004.12:69484288 1 0 0 0 0 60628150, XM_005265701.2:c.632+920C>A, XM_005265701.1:c.632+920C>A, NC_000004.12:g.69484288G>T, NM_001297615.1:c.1090+2321C>A, NM_001297616.1:c.902+920C>A, XM_005265699.1:c.902+920C>A, NC_000004.11:g.70350006G>T, NM_021139.2:c.1310+920C>A, NC_000004.12:g.69484288=, rs4557343, rs60628150, 4557343, NC_000004.11:g.70350006=, NC_000004.12:g.69484288G>A, XM_005265700.1:c.1090+2321C>A, NC_000004.11:g.70350006G>A +PA166318621 rs45574836 PA25168 ATP8B3 NC_000019.10:1806668 1 0 0 0 0 rs45574836, NC_000019.10:g.1806668C>T, NC_000019.10:g.1806668=, NP_620168.1:p.Ala213Ser, NC_000019.10:g.1806668C>A, NP_620168.1:p.Ala213=, NP_620168.1:p.Ala213Thr, 45574836, NC_000019.9:g.1806667=, NC_000019.9:g.1806667C>T, NC_000019.9:g.1806667C>A +PA166250524 rs45575938 PA122,PA134962723 CYP3A7,ZSCAN25 NC_000007.14:99735375 5 1 1 0 0 NG_007983.1:g.4824=, NG_055449.1:g.383A>G, 45575938, NG_007983.1:g.4824T>C, NC_000007.13:g.99332998A>G, rs45575938, NC_000007.14:g.99735375=, NG_055449.1:g.383=, NC_000007.14:g.99735375A>G, NC_000007.13:g.99332998= +PA166195118 rs4558416 PA134953867 TUBB3 NC_000016.10:89936359 1 0 0 0 0 NC_000016.10:g.89936359=, NG_027810.1:g.19351=, NC_000016.9:g.90002767=, NG_027810.1:g.19351A>G, 4558416, NC_000016.10:g.89936359A>G, NC_000016.9:g.90002767A>G, rs4558416 +PA166163277 rs45586133 PA27955 FAAH NC_000001.11:46407367 1 0 0 0 0 NC_000001.10:g.46873039G>A, NG_012195.1:g.18101G>A, rs45586133, NC_000001.11:g.46407367G>A, 45586133, NC_000001.11:g.46407367=, NC_000001.10:g.46873039=, NG_012195.1:g.18101= +PA166153885 rs45589337 PA145 DPYD NC_000001.11:97679170 7 0 0 1 0 XP_005270619.2:p.Lys259Glu, rs59034382, XM_005270562.1:c.775A>G, XP_005270619.1:p.Lys259Glu, XP_005270620.1:p.Lys259Glu, 59034382, XM_005270563.1:c.775A>G, NC_000001.11:g.97679170=, rs45589337, XM_005270562.3:c.775A>G, NG_008807.2:g.246890=, NC_000001.11:g.97679170T>C, XM_006710397.2:c.775A>G, XP_005270621.1:p.Lys259Glu, NC_000001.10:g.98144726=, NC_000001.10:g.98144726T>C, 45589337, NP_000101.2:p.Lys259Glu, XM_005270564.1:c.775A>G, XP_006710460.1:p.Lys259Glu, XP_005270618.1:p.Lys222Glu, NG_008807.2:g.246890A>G, XM_005270561.1:c.664A>G, NP_000101.2:p.Lys259=, NM_000110.3:c.775A>G +PA166156686 rs45605536 PA390 ABCG2 NC_000004.12:88097518 1 1 0 0 0 XM_005263355.2:c.1582G>A, rs45605536, XP_005263413.1:p.Ala526Thr, NP_004818.2:p.Ala528=, XM_005263356.2:c.1576G>A, NG_032067.2:g.138805G>A, XM_011532420.1:c.1582G>A, XM_005263354.1:c.1582G>A, NM_001257386.1:c.1582G>A, NP_004818.2:p.Ala528Thr, XM_005263354.2:c.1582G>A, XM_005263355.1:c.1582G>A, NM_004827.2:c.1582G>A, NC_000004.11:g.89018670C>T, NP_001244315.1:p.Ala528Thr, 45605536, XP_011530722.1:p.Ala528Thr, NC_000004.12:g.88097518C>T, NC_000004.12:g.88097518=, XM_005263356.1:c.1576G>A, NG_032067.2:g.138805=, NC_000004.11:g.89018670=, XP_005263412.1:p.Ala528Thr, XP_005263411.1:p.Ala528Thr +PA166157657 rs45607939 PA18 NAT2 NC_000008.11:18400616 1 0 0 0 0 NC_000008.11:g.18400616A>G, NG_012246.1:g.14372A>G, XM_011544358.1:c.613A>T, 45607939, NG_012246.1:g.14372=, NC_000008.10:g.18258126A>G, NC_000008.11:g.18400616=, XP_011542660.1:p.Met205Leu, NC_000008.10:g.18258126=, NM_000015.2:c.613A>T, NC_000008.11:g.18400616A>T, NG_012246.1:g.14372A>T, NP_000006.2:p.Met205=, rs45607939, NC_000008.10:g.18258126A>T, NP_000006.2:p.Met205Leu, NP_000006.2:p.Met205Val +PA166176943 rs4562 PA26575,PA143485405 CLDN7,ELP5 NC_000017.11:7260420 1 1 0 0 0 3180649, 222858, NC_000017.11:g.7260420=, NP_001298.3:p.Val197=, NC_000017.10:g.7163739A>G, 4562, rs4562, NP_001298.3:p.Val197Glu, NC_000017.10:g.7163739=, NP_001298.3:p.Val197Ala, NC_000017.11:g.7260420A>T, 60901387, 17856030, NC_000017.10:g.7163739A>T, NC_000017.11:g.7260420A>G, 3744401 +PA166157599 rs4567028 PA28654 GFRA2 NC_000008.11:21722498 1 0 0 0 0 XM_005273475.2:c.438-16457C>T, NM_001495.4:c.795-16457C>T, NG_029215.2:g.71337=, 58465121, XM_005273472.1:c.837-16457C>T, NC_000008.10:g.21580010=, NC_000008.10:g.21580010G>A, NG_029215.1:g.71337C>T, XM_006716327.2:c.795-16457C>T, NG_029215.1:g.71337=, NM_001165038.1:c.480-16457C>T, NM_001165039.1:c.396-16457C>T, XM_005273475.1:c.438-16457C>T, XM_011544484.1:c.795-16457C>T, XM_011544485.1:c.480-16457C>T, 4567028, NC_000008.11:g.21722498=, NC_000008.11:g.21722498G>A, XM_005273474.1:c.522-16457C>T, NG_029215.2:g.71337C>T, XM_005273473.1:c.795-16457C>T, rs58465121, rs4567028 +PA166154593 rs4570625 PA128747823 TPH2 NC_000012.12:71938143 7 1 0 0 0 XR_245894.1:n.-840G>T, rs60080807, NC_000012.12:g.71938143G>T, rs4570625, NG_008279.1:g.4298G>T, 4570625, NC_000012.12:g.71938143=, 60080807, NC_000012.11:g.72331923=, NC_000012.11:g.72331923G>T, XM_005268642.1:c.-844G>T, XR_245894.2:n.-744G>T, NM_173353.3:c.-844G>T, NG_008279.1:g.4298= +PA166155414 rs4572514 PA142672156,PA34195 POLR1G,PPP1R13L NC_000019.10:45400508 1 0 0 0 0 NC_000019.10:g.45400508T>C, 60493644, NC_000019.9:g.45903766=, XM_005258424.1:c.190-2169A>G, rs35908066, NM_006663.3:c.-21-2169A>G, NM_001142502.1:c.-21-2169A>G, rs4572514, 4572514, NC_000019.10:g.45400508T>A, NC_000019.10:g.45400508=, NC_000019.9:g.45903766T>C, rs60493644, 35908066, NC_000019.9:g.45903766T>A +PA166183959 rs4575304 NC_000011.10:5573250 1 0 0 0 0 NC_000011.9:g.5594480A>G, rs4575304, 57464033, NC_000011.10:g.5573250=, NC_000011.9:g.5594480=, NC_000011.10:g.5573250A>T, NC_000011.10:g.5573250A>G, NC_000011.9:g.5594480A>T, 4575304 +PA166156829 rs4580760 PA134888452 SV2C NC_000005.10:76144530 1 0 0 0 0 NC_000005.9:g.75440355A>C, 58034436, NC_000005.10:g.76144530A>G, NC_000005.10:g.76144530A>C, 58555659, NC_000005.10:g.76144530=, XM_005248470.1:c.580+12200A>C, XM_011543281.1:c.580+12200A>C, rs58555659, NC_000005.10:g.76144530A>T, NM_001297716.1:c.580+12200A>C, NC_000005.9:g.75440355A>T, rs4580760, rs58034436, 4580760, NC_000005.9:g.75440355=, NM_014979.3:c.580+12200A>C, NC_000005.9:g.75440355A>G, XM_011543282.1:c.8+12200A>C +PA166155151 rs4586 PA130413151 CCL2 NC_000017.11:34256250 2 1 0 0 0 2071446, NG_012123.1:g.5974T>C, NC_000017.11:g.34256250T>A, NC_000017.11:g.34256250T>C, rs2071446, NM_002982.3:c.105T>C, NP_002973.1:p.Cys35Ter, 4586, NC_000017.10:g.32583269T>C, rs2228016, 2228016, rs57567549, NC_000017.10:g.32583269=, rs4586, NC_000017.10:g.32583269T>A, NG_012123.1:g.5974=, NP_002973.1:p.Cys35=, NC_000017.11:g.34256250=, rs3091333, 3091333, 57567549, rs3169684, 3169684, NG_012123.1:g.5974T>A +PA166180080 rs4587017 PA361 UGT2B7 NC_000004.12:69081680 2 1 0 0 0 rs4587017, 4587017, NC_000004.11:g.69947398T>C, NC_000004.11:g.69947398T>G, 61180055, NC_000004.12:g.69081680T>C, NC_000004.12:g.69081680=, NC_000004.11:g.69947398=, 17466098, NC_000004.12:g.69081680T>G +PA166176689 rs4588 PA28601 GC NC_000004.12:71752606 2 0 0 0 0 NG_012837.2:g.57915C>A, NP_000574.2:p.Thr436Met, NC_000004.12:g.71752606=, NP_000574.2:p.Thr436=, 3737552, NC_000004.11:g.72618323G>A, NC_000004.12:g.71752606G>T, NG_012837.3:g.57915=, 16846941, NG_012837.3:g.57915C>T, 3172681, 4987170, NG_012837.3:g.57915C>A, NP_000574.2:p.Thr436Lys, rs4588, NC_000004.11:g.72618323G>T, 4588, NG_012837.2:g.57915=, NC_000004.11:g.72618323=, 1047220, NC_000004.12:g.71752606G>A, NG_012837.2:g.57915C>T +PA166157775 rs4588940 PA426 SLC28A3 NC_000009.12:84326705 1 0 0 0 0 NC_000009.11:g.86941620A>C, XM_011518906.1:c.61-13251T>C, NM_022127.2:c.61-13251T>C, XM_011518910.1:c.61-13251T>C, 17552068, XM_011518909.1:c.61-13251T>C, NC_000009.12:g.84326705A>C, NC_000009.11:g.86941620A>G, NC_000009.12:g.84326705A>G, NM_001199633.1:c.61-13251T>C, 4588940, rs17552068, NC_000009.11:g.86941620=, XM_011518907.1:c.-97-13251T>C, NC_000009.12:g.84326705=, rs4588940, NR_037638.2:n.207-13251T>C, XM_011518905.1:c.61-13251T>C, XR_929832.1:n.188-13251T>C +PA166156734 rs460000 PA311 SLC6A3 NC_000005.10:1432710 3 0 0 0 0 58561391, rs386593951, NG_015885.1:g.17719=, NT_187547.1:g.77063C>A, NG_015885.1:g.17719C>A, NC_000005.10:g.1432710=, NC_000005.10:g.1432710G>A, NG_015885.1:g.17719C>G, 460000, NC_000005.10:g.1432710G>C, NC_000005.9:g.1432825G>C, NC_000005.9:g.1432825=, NC_000005.9:g.1432825G>A, rs58561391, NG_015885.1:g.17719C>T, 386593951, NM_001044.4:c.419-12C>A, rs460000, NC_000005.10:g.1432710G>T, NC_000005.9:g.1432825G>T +PA166162313 rs4603933 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151385282 1 0 0 0 0 NC_000003.12:g.151385282T>A, NG_016019.1:g.4475A>C, NC_000003.12:g.151385282T>C, NG_016019.1:g.4475A>G, NG_016019.1:g.4475=, NG_021244.1:g.303395T>C, NG_021244.1:g.303395T>A, NG_021244.1:g.303395T>G, NC_000003.11:g.151103070T>A, 4603933, NC_000003.11:g.151103070T>C, rs4603933, NG_016019.1:g.4475A>T, 61513403, NC_000003.11:g.151103070=, NC_000003.12:g.151385282=, NC_000003.12:g.151385282T>G, NG_021244.1:g.303395=, NC_000003.11:g.151103070T>G +PA166156591 rs4604006 PA37304 VEGFC NC_000004.12:176687621 2 1 0 0 0 NM_005429.4:c.812-101A>G, NC_000004.12:g.176687621T>C, XR_939499.1:n.209+17912T>C, rs4604006, NC_000004.11:g.177608775T>C, NG_034216.1:g.110125A>G, NC_000004.11:g.177608775T>A, 58676609, XR_939498.1:n.260+7871T>C, rs58663877, NC_000004.12:g.176687621T>A, NC_000004.12:g.176687621=, NC_000004.11:g.177608775=, 4604006, 58663877, rs58676609, NG_034216.1:g.110125=, NG_034216.1:g.110125A>T +PA166153543 rs4606 PA34372 RGS2 NC_000001.11:192812042 2 1 0 0 0 rs60068188, NC_000001.10:g.192781172C>G, NC_000001.11:g.192812042C>T, NG_012800.1:g.8004C>T, NC_000001.10:g.192781172=, 3171061, rs3171061, 16865112, NC_000001.11:g.192812042=, NC_000001.11:g.192812042C>G, NG_012800.1:g.8004C>G, 4606, NC_000001.10:g.192781172C>T, NM_002923.3:c.*446C>G, NG_012800.1:g.8004=, rs4606, rs16865112, 60068188 +PA166170123 rs460700 PA311 SLC6A3 NC_000005.10:1429854 2 0 0 0 0 460700, rs460700, NC_000005.10:g.1429854T>C, NC_000005.9:g.1429969=, NG_015885.1:g.20575=, 16878258, NC_000005.10:g.1429854=, 3776502, NG_015885.1:g.20575A>G, NC_000005.9:g.1429969T>C, 60125833 +PA166305782 rs4612666 PA26512 NLRP3 NC_000001.11:247435768 1 0 0 0 0 4612666, rs4612666, NC_000001.11:g.247435768T>C, NC_000001.10:g.247599070=, 61462439, NG_007509.2:g.24596=, NC_000001.11:g.247435768=, NG_007509.2:g.24596T>C, NC_000001.10:g.247599070T>C, 58794905 +PA166156919 rs461473 PA329 SLC22A1 NC_000006.12:160122530 1 0 0 0 0 NC_000006.11:g.160543562=, NC_000006.11:g.160543562G>A, XM_005267102.1:c.411+184G>A, XM_005267105.1:c.-166+95G>A, XM_006715552.1:c.411+184G>A, 461473, NC_000006.12:g.160122530=, NM_153187.1:c.411+184G>A, NM_003057.2:c.411+184G>A, XM_005267102.3:c.411+184G>A, XM_005267105.3:c.-166+95G>A, XM_011536074.1:c.-481G>A, XM_005267103.1:c.411+184G>A, rs461473, NC_000006.12:g.160122530G>A +PA166157102 rs4615376 PA134923900 PHACTR1 NC_000006.12:13070841 1 0 0 0 0 NC_000006.12:g.13070841=, NC_000006.11:g.13071073=, NM_001242648.1:c.415+17312A>G, XM_011514391.1:c.205+17312A>G, XM_005248935.3:c.415+17312A>G, XM_011514392.1:c.139+17312A>G, XM_011514390.1:c.415+17312A>G, XM_005248933.1:c.415+17312A>G, XM_005248937.1:c.139+17312A>G, XM_005248935.1:c.415+17312A>G, NC_000006.12:g.13070841A>G, NC_000006.11:g.13071073A>G, XM_006715021.2:c.418+17312A>G, NM_030948.2:c.415+17312A>G, 4615376, XM_005248936.1:c.139+17312A>G, XM_005248934.1:c.415+17312A>G, rs4615376, XM_005248936.3:c.139+17312A>G, XM_005248937.2:c.139+17312A>G +PA166154496 rs461872 PA24920 AQP2 NC_000012.12:49951423 2 0 0 0 0 56469367, NC_000012.12:g.49951423=, NC_000012.12:g.49951423G>A, 461872, rs59534325, rs56469367, 3782321, NC_000012.11:g.50345206G>A, NR_110591.1:n.534C>T, NC_000012.11:g.50345206=, rs3782321, NG_008913.1:g.5683G>A, NG_008913.1:g.5683=, rs461872, 59534325, NM_000486.5:c.360+233G>A +PA166156920 rs462779 PA34337 REV3L NC_000006.12:111374684 2 1 0 0 0 NG_053000.1:g.114032=, 17510886, XM_006715544.2:c.3437C>T, XP_005267145.1:p.Thr1146Ile, XP_005267146.1:p.Thr1102Ile, NM_002912.4:c.3671C>T, rs462779, XM_011536035.1:c.3674C>T, XM_006715543.2:c.3671C>T, XR_942546.1:n.4223C>T, 386594115, NC_000006.12:g.111374684=, XM_005267088.1:c.3437C>T, XR_942545.1:n.4223C>T, XM_011536036.1:c.3674C>T, XM_005267089.1:c.3305C>T, XP_005267147.1:p.Thr1224Ile, NC_000006.11:g.111695887G>A, 462779, NM_001286431.1:c.3437C>T, XP_011534337.1:p.Thr1225Ile, NC_000006.11:g.111695887=, XP_011534335.1:p.Thr1225Ile, XM_011536032.1:c.3440C>T, rs17510886, NM_001286432.1:c.3437C>T, XM_011536031.1:c.3440C>T, XP_011534336.1:p.Thr1225Ile, 52812261, XP_006715607.1:p.Thr1146Ile, XP_011534331.1:p.Thr1224Ile, XP_006715606.1:p.Thr1224Ile, NG_053000.1:g.114032C>T, NP_001273361.1:p.Thr1146Ile, XM_005267091.1:c.3671C>T, XM_011536028.1:c.3674C>T, XP_011534330.1:p.Thr1225Ile, rs56811779, XP_011534334.1:p.Thr1147Ile, XP_011534338.1:p.Thr1225Ile, XM_005267090.1:c.3671C>T, XP_005267148.1:p.Thr1224Ile, XM_011536030.1:c.3674C>T, rs386594115, NP_001273360.1:p.Thr1146Ile, NP_002903.3:p.Thr1224=, 56811779, XM_011536033.1:c.3674C>T, XM_011536034.1:c.3674C>T, XM_011536029.1:c.3671C>T, XP_011534333.1:p.Thr1147Ile, rs52812261, XP_011534332.1:p.Thr1225Ile, NP_002903.3:p.Thr1224Ile, NC_000006.12:g.111374684G>A +PA166176948 rs4627790 PA38818 CMTM8 NC_000003.12:32259860 1 1 0 0 0 rs4627790, NC_000003.12:g.32259860=, NC_000003.12:g.32259860T>C, 4627790, NG_006999.4:g.1053T>C, NG_006999.5:g.1078T>C, NG_006999.4:g.1053=, NC_000003.11:g.32301352T>C, NC_000003.11:g.32301352=, NG_006999.5:g.1078= +PA166156592 rs4627835 PA28495 GABRB1 NC_000004.12:47308250 1 0 0 0 0 XM_011513678.1:c.441-11877A>T, NC_000004.12:g.47308250=, NC_000004.11:g.47310267=, rs4627835, NG_051831.1:g.281973=, NC_000004.11:g.47310267A>T, 4627835, NM_000812.3:c.462-11877A>T, XM_005248081.1:c.462-11877A>T, NC_000004.12:g.47308250A>T, NG_051831.1:g.281973A>T +PA166156022 rs4630 PA183 GSTT1 2 1 0 0 0 4630, NM_000853.3:c.*101C>T, rs772061188, NC_000022.10:g.24376322G>A, NM_001293808.1:c.*101C>T, rs4630, NM_001293807.1:c.*101C>T, NM_001293809.1:c.*101C>T, XM_005261587.2:c.*101C>T, NM_001293814.1:c.*189C>T, NC_000022.10:g.24376322=, rs2250160, NM_001293810.1:c.*101C>T, NR_132348.1:n.360G>A, 3190565, rs3190565, NM_001293813.1:c.*178C>T, XM_005261587.1:c.*101C>T, XM_005261588.1:c.*101C>T, rs1065851, 2250160, NM_001293811.1:c.*101C>T, 772061188, NT_187633.1:g.270497G>A, XM_005261589.1:c.*101C>T, 1065851, NM_001293812.1:c.*101C>T +PA166156023 rs4633 PA117 COMT NC_000022.11:19962712 15 5 0 0 0 NC_000022.10:g.19950235C>T, rs2070105, XP_011528193.1:p.His62=, 2070105, XM_005261229.1:c.186C>T, 165735, XM_011529887.1:c.186C>T, rs17818166, NC_000022.11:g.19962712=, NP_001128634.1:p.His62=, NG_011526.1:g.25973=, 17349382, NR_039918.1:n.-1041C>T, XP_011528190.1:p.His62=, NM_007310.2:c.36C>T, NP_000745.1:p.His62=, rs58430367, 3171582, XM_011529886.1:c.300C>T, NM_000754.3:c.186C>T, 752985, XM_011529890.1:c.186C>T, rs165735, XP_005261286.1:p.His62=, 4906, rs4633, XM_011529885.1:c.300C>T, XM_011529888.1:c.186C>T, NP_001128633.1:p.His62=, NP_009294.1:p.His12=, rs17349382, XM_011529889.1:c.186C>T, XP_011528191.1:p.His62=, NM_001135161.1:c.186C>T, rs752985, rs3171582, XP_011528187.1:p.His100=, XP_011528188.1:p.His100=, NC_000022.10:g.19950235=, 17818166, XP_011528189.1:p.His62=, XP_011528192.1:p.His62=, NC_000022.11:g.19962712C>T, XM_011529891.1:c.186C>T, NG_011526.1:g.25973C>T, rs4906, 4633, 58430367, NM_001135162.1:c.186C>T +PA166155910 rs463312 PA38100 TUBB1 NC_000020.11:59022915 1 0 0 0 0 NG_023424.2:g.8662A>C, NC_000020.11:g.59022915=, NC_000020.10:g.57597970=, NG_023424.2:g.8662=, NP_110400.1:p.Gln43Pro, rs463312, NM_030773.3:c.128A>C, NC_000020.11:g.59022915A>C, NP_110400.1:p.Gln43=, NC_000020.10:g.57597970A>C, 463312 +PA166155731 rs4638843 PA31133 MSH2 NC_000002.12:47476888 1 0 0 0 0 NC_000002.12:g.47476888G>C, XM_011532867.1:c.2210+317G>C, rs61203271, 4638843, NC_000002.11:g.47704027=, NG_007110.2:g.78765G>C, NC_000002.12:g.47476888G>A, rs17224885, NG_007110.2:g.78765G>A, NC_000002.11:g.47704027G>A, NM_001258281.1:c.2012+317G>C, XM_005264332.2:c.2210+317G>C, XM_005264333.1:c.2060+317G>C, 61203271, 5023612, NC_000002.12:g.47476888=, XR_939685.1:n.2282+317G>C, NG_007110.2:g.78765=, NM_000251.2:c.2210+317G>C, rs5023612, NC_000002.11:g.47704027G>C, XM_005264332.1:c.2210+317G>C, rs4638843, 17224885 +PA166177182 rs4639250 PA162407226 SKIC3 NC_000005.10:95481198 1 1 0 0 0 NG_023414.1:g.78808=, NG_023414.1:g.78808G>C, NC_000005.10:g.95481198C>G, NC_000005.9:g.94816902C>A, NC_000005.9:g.94816902=, 4639250, rs4639250, 61607698, NC_000005.9:g.94816902C>G, NC_000005.10:g.95481198C>A, NC_000005.10:g.95481198=, NG_023414.1:g.78808G>T +PA166160217 rs4640231 PA26874 CRHR1 NC_000017.11:45835420 1 0 0 0 0 NC_000017.10:g.43912786G>C, NG_009902.1:g.56159G>C, 116982014, NC_000017.10:g.43912786G>A, NG_009902.1:g.56159G>A, NC_000017.11:g.45835420G>C, rs4640231, 4640231, 146575239, 61128746, NC_000017.11:g.45835420G>A, NC_000017.10:g.43912786=, NG_009902.1:g.56159=, NC_000017.11:g.45835420=, 17763368 +PA166170124 rs464049 PA311 SLC6A3 NC_000005.10:1423790 2 0 0 0 0 NG_015885.1:g.26639=, NC_000005.9:g.1423905A>G, NC_000005.10:g.1423790A>G, 464049, 3776504, 60205046, NC_000005.9:g.1423905A>T, NG_015885.1:g.26639T>A, NC_000005.10:g.1423790=, NC_000005.9:g.1423905=, NC_000005.10:g.1423790A>T, rs464049, NG_015885.1:g.26639T>C +PA166186239 rs4643 PA33242 PGM1 NC_000001.11:63659768 2 1 0 0 0 NG_016966.1:g.71493A>C, 17125234, NC_000001.11:g.63659768=, NC_000001.10:g.64125439=, rs4643, 3182019, 57193729, 4643, NC_000001.11:g.63659768A>C, NG_016966.1:g.71493=, NC_000001.10:g.64125439A>C, 3790856 +PA166160283 rs4643786 PA137 DCK NC_000004.12:71029543 2 0 0 0 0 NC_000004.12:g.71029543C>T, NC_000004.11:g.71895260C>T, NC_000004.12:g.71029543=, NG_023303.1:g.40996C>T, NC_000004.11:g.71895260=, NG_023303.1:g.40996C>G, 58688008, NC_000004.12:g.71029543C>G, NG_023303.1:g.40996=, 4643786, rs4643786, NC_000004.11:g.71895260C>G +PA166160643 rs4644 PA30340 LGALS3 NC_000014.9:55138217 1 0 0 0 0 61570076, NC_000014.8:g.55604935C>A, NC_000014.9:g.55138217C>A, NP_002297.2:p.Pro64Arg, NP_002297.2:p.Pro64His, 17854838, 3181581, 17253709, NC_000014.9:g.55138217C>G, NG_017089.1:g.14001C>G, NP_002297.2:p.Pro64=, NC_000014.9:g.55138217=, NG_017089.1:g.14001=, rs4644, 2075599, 4644, NC_000014.8:g.55604935=, NG_017089.1:g.14001C>A, NC_000014.8:g.55604935C>G +PA166157600 rs4645943 PA31353 MYC NC_000008.11:127735225 1 0 0 0 0 NG_007161.1:g.4156C>T, XM_005250922.1:c.-1411C>T, NG_046332.1:g.1582=, 57894328, 4645943, NG_007161.2:g.4792C>T, NR_117102.1:n.-1258G>A, NC_000008.10:g.128747471C>T, NR_117101.1:n.-1258G>A, rs4645943, NG_007161.2:g.4792=, NG_046332.1:g.1582C>T, XR_242431.1:n.-1261G>A, NC_000008.10:g.128747471=, rs57894328, NM_002467.4:c.-1369C>T, NC_000008.11:g.127735225=, NC_000008.11:g.127735225C>T +PA166157601 rs4645962 PA31353 MYC NC_000008.11:127739080 1 0 0 0 0 rs4645962, NC_000008.11:g.127739080=, NG_007161.2:g.8647T>C, NC_000008.11:g.127739080T>C, NG_007161.2:g.8647=, NC_000008.10:g.128751326=, NC_000008.10:g.128751326T>C, NG_007161.1:g.8011T>C, XM_005250922.1:c.757+61T>C, 4645962, NM_002467.4:c.802+61T>C +PA166157602 rs4645974 PA31353 MYC NC_000008.11:127742443 1 0 0 0 0 NC_000008.10:g.128754689=, NC_000008.10:g.128754689C>T, 59670569, 4645974, NG_007161.2:g.12010=, NC_000008.11:g.127742443C>T, 56434981, rs4645974, NC_000008.11:g.127742443=, NG_007161.2:g.12010C>T, rs59670569, rs56434981, NG_007161.1:g.11374C>T +PA166153767 rs4645983 PA26094 CASP9 NC_000001.11:15524108 1 0 0 0 0 NP_001220.2:p.Ser31=, NR_102733.1:n.338C>T, rs386594200, XR_946778.1:n.258C>T, NM_032996.3:c.-118+475C>T, NC_000001.10:g.15850603G>A, XM_005246013.1:c.93C>T, XM_011542270.1:c.93C>T, 4645983, NR_102732.1:n.338C>T, XM_005246014.1:c.-118+744C>T, XM_011542272.1:c.-118+2083C>T, XM_011542273.1:c.93C>T, XM_005246015.1:c.-434C>T, NC_000001.10:g.15850603=, XM_011542271.1:c.-474C>T, NC_000001.11:g.15524108=, NG_029188.1:g.5683C>T, NG_029188.1:g.5683=, NC_000001.11:g.15524108G>A, NM_001278054.1:c.93C>T, rs4645983, NM_001229.4:c.93C>T, XP_011540572.1:p.Ser31=, 386594200, NP_001264983.1:p.Ser31=, XP_011540575.1:p.Ser31=, XP_005246070.1:p.Ser31=, XM_005246050.1:c.-102G>A, XM_005246014.2:c.-118+744C>T +PA166154836 rs4646 PA27091 CYP19A1 NC_000015.10:51210647 7 3 0 0 0 NM_000103.3:c.*161T>G, rs58335330, NC_000015.10:g.51210647A>C, NC_000015.9:g.51502844A>C, XM_005254192.1:c.*161T>G, 16964193, NM_031226.2:c.*161T>G, XM_005254190.1:c.*161T>G, XM_005254191.1:c.*161T>G, NC_000015.10:g.51210647=, rs16964193, rs4646, XR_932222.1:n.99-67336A>C, rs3191019, 3191019, 58335330, NG_007982.1:g.132952=, 4646, NG_007982.1:g.132952T>G, NC_000015.9:g.51502844= +PA166157603 rs4646244 PA18 NAT2 NC_000008.11:18390208 4 1 0 0 0 4646244, NG_012246.1:g.3964=, NM_000015.2:c.-1144T>A, 17595300, NC_000008.11:g.18390208T>A, rs17595300, NC_000008.10:g.18247718=, NC_000008.10:g.18247718T>A, NG_012246.1:g.3964T>A, NC_000008.11:g.18390208=, rs4646244 +PA166157604 rs4646267 PA18 NAT2 NC_000008.11:18390403 2 0 0 0 0 4646267, NC_000008.10:g.18247913A>T, NC_000008.11:g.18390403A>G, NG_012246.1:g.4159=, NC_000008.10:g.18247913A>G, NG_012246.1:g.4159A>T, NC_000008.11:g.18390403=, NC_000008.11:g.18390403A>T, NC_000008.10:g.18247913=, NG_012246.1:g.4159A>G, rs4646267, NM_000015.2:c.-949A>G +PA166156107 rs4646312 PA117 COMT NC_000022.11:19960814 2 0 0 0 0 NC_000022.10:g.19948337T>C, XM_011529889.1:c.-91-385T>C, XM_011529885.1:c.24-385T>C, rs57504087, 4646312, rs56879747, NG_011526.1:g.24075T>C, XM_011529891.1:c.-385-385T>C, NM_001135162.1:c.-91-385T>C, 56879747, rs56459767, XM_011529886.1:c.24-385T>C, XM_011529887.1:c.-91-385T>C, NM_001135161.1:c.-91-385T>C, NM_007310.2:c.-1863T>C, NM_000754.3:c.-91-385T>C, rs4646312, NC_000022.11:g.19960814=, 56459767, XM_005261229.1:c.-385-385T>C, XM_011529888.1:c.-91-385T>C, NG_011526.1:g.24075=, XM_011529890.1:c.-385-385T>C, 57504087, NC_000022.11:g.19960814T>C, NC_000022.10:g.19948337= +PA166156108 rs4646316 PA117 COMT NC_000022.11:19964609 8 2 0 0 0 XM_011529886.1:c.729+310C>T, NM_001135161.1:c.615+310C>T, XM_011529890.1:c.615+310C>T, NG_011526.1:g.27870=, 58510682, NG_011526.1:g.27870C>G, NM_001135162.1:c.615+310C>T, 4646316, NC_000022.11:g.19964609C>G, XM_011529887.1:c.615+310C>T, XM_011529888.1:c.615+310C>T, NG_011526.1:g.27870C>T, NM_000754.3:c.615+310C>T, NC_000022.10:g.19952132=, XM_005261229.1:c.615+310C>T, NM_007310.2:c.465+310C>T, NC_000022.10:g.19952132C>G, rs58510682, NC_000022.11:g.19964609=, XM_011529889.1:c.615+310C>T, NC_000022.10:g.19952132C>T, XM_011529885.1:c.729+310C>T, rs4646316, XM_011529891.1:c.615+310C>T, NC_000022.11:g.19964609C>T +PA166154907 rs4646421 PA27092 CYP1A1 NC_000015.10:74723851 1 0 0 0 0 rs17861096, NM_000499.3:c.-26-728C>T, rs56892849, NC_000015.10:g.74723851G>A, XM_005254189.1:c.-220-1317C>T, NM_000499.4:c.-26-728C>T, NG_055242.1:g.157G>T, rs4646421, NG_008431.1:g.6310G>A, NC_000015.9:g.75016192G>T, 17861096, 386594230, NG_008431.2:g.6310G>C, NG_008431.2:g.6310G>A, XM_005254188.1:c.-29-725C>T, 56892849, NM_001319217.1:c.-29-725C>T, XM_005254185.1:c.-29-725C>T, NC_000015.10:g.74723851G>C, 117365388, NG_061374.1:g.6678C>T, rs117365388, NG_055242.1:g.157G>A, NG_061374.1:g.6678C>G, NC_000015.9:g.75016192G>A, NM_001319216.1:c.-29-725C>T, XM_005254186.1:c.-29-725C>T, NG_008431.2:g.6310G>T, NC_000015.10:g.74723851=, NG_061374.1:g.6678C>A, NC_000015.10:g.74723851G>T, NG_055242.1:g.157=, 4646421, NG_008431.2:g.6310=, NG_061374.1:g.6678=, XM_005254187.1:c.-29-725C>T, rs386594230, NC_000015.9:g.75016192G>C, NG_055242.1:g.157G>C, NC_000015.9:g.75016192= +PA166154909 rs4646425 PA27093 CYP1A2 NC_000015.10:74750940 8 2 0 0 0 NG_061543.1:g.7096C>T, NG_008431.2:g.33399=, NC_000015.10:g.74750940=, rs17861156, NG_008431.1:g.33399C>T, NC_000015.9:g.75043281=, NM_000761.3:c.832-249C>T, 17861156, NG_061543.1:g.7096=, NM_000761.4:c.832-249C>T, 4646425, 60834094, rs4646425, NC_000015.9:g.75043281C>T, NC_000015.10:g.74750940C>T, NG_008431.2:g.33399C>T, rs60834094 +PA166154910 rs4646427 PA27093 CYP1A2 NC_000015.10:74753351 5 2 0 0 0 NC_000015.10:g.74753351=, NC_000015.9:g.75045692T>C, NC_000015.10:g.74753351T>C, NG_008431.2:g.35810=, NC_000015.9:g.75045692=, 4646427, NG_061543.1:g.9507T>C, NM_000761.4:c.1253+81T>C, NG_008431.1:g.35810T>C, 17861160, NM_000761.3:c.1253+81T>C, rs4646427, NG_061543.1:g.9507=, rs17861160, NG_008431.2:g.35810T>C +PA166157391 rs4646437 PA130 CYP3A4 NC_000007.14:99767460 20 4 1 0 0 NC_000007.14:g.99767460=, rs386594232, 57997883, NG_008421.1:g.21726C>T, NM_001202855.2:c.671-205C>T, 4646437, NC_000007.13:g.99365083=, NC_000007.14:g.99767460G>A, 386594232, rs4646437, NM_017460.5:c.671-202C>T, XM_011515842.1:c.671-205C>T, NG_008421.1:g.21726=, rs57997883, XM_011515841.1:c.671-202C>T, NC_000007.13:g.99365083G>A +PA166157392 rs4646438 PA130 CYP3A4 NC_000007.14:99766413 2 1 1 0 0 XM_011515841.1:c.830_831insA, XP_011514143.1:p.Asp277Glufs, NC_000007.13:g.99364035=, NC_000007.14:g.99766411_99766412insT, NC_000007.14:g.99766412=, NG_008421.1:g.22774_22775insA, NG_008421.1:g.22774dup, 4646438, NP_059488.2:p.Asp277=, NP_001189784.1:p.Asp276Glufs, NG_008421.1:g.22774=, rs4646438, NP_059488.2:p.Asp277Glufs, NC_000007.13:g.99364034_99364035insT, NC_000007.14:g.99766412dup, NM_017460.5:c.830_831insA, NC_000007.13:g.99364035dup, XM_011515842.1:c.827_828insA, NP_059488.2:p.Asp277fs, XP_011514144.1:p.Asp276Glufs, NM_001202855.2:c.827_828insA +PA166157393 rs4646440 PA130 CYP3A4 NC_000007.14:99763247 3 1 0 0 0 XM_011515841.1:c.1026+608C>T, NM_001202855.2:c.1023+608C>T, rs386594233, 56791612, rs4646440, NC_000007.13:g.99360870G>A, NC_000007.14:g.99763247G>A, XM_011515842.1:c.1023+608C>T, 4646440, 386594233, NC_000007.14:g.99763247=, NM_017460.5:c.1026+608C>T, NG_008421.1:g.25939=, NC_000007.13:g.99360870=, NG_008421.1:g.25939C>T, rs56791612 +PA166176608 rs4646450 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99668695 3 1 0 0 0 NC_000007.13:g.99266318G>A, NC_000007.14:g.99668695=, 4646450, NG_007938.1:g.16304C>T, NC_000007.13:g.99266318=, NC_000007.14:g.99668695G>A, 58412219, rs4646450, 10382662, NG_007938.1:g.16304= +PA166249941 rs4646453 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99662739 2 0 0 0 0 NG_007938.1:g.22260G>T, 4646453, 58828001, NG_007938.2:g.22260G>T, 386594237, NG_007938.2:g.22260=, NC_000007.13:g.99260362=, rs4646453, NC_000007.14:g.99662739=, NC_000007.13:g.99260362C>A, NG_007938.1:g.22260=, NC_000007.14:g.99662739C>A +PA166157394 rs4646457 PA134962723 ZSCAN25 NC_000007.14:99647457 1 0 0 0 0 XM_011515910.1:c.806-14A>C, XM_011515909.1:c.806-21638A>C, NC_000007.13:g.99245080A>C, NC_000007.14:g.99647457A>C, NC_000007.14:g.99647457=, NC_000007.13:g.99245080A>T, 59982591, 4646457, rs10369117, rs4646457, NC_000007.14:g.99647457A>T, NG_007938.1:g.37542=, XM_005250198.1:c.805+23277A>C, XR_927402.1:n.1466+23277A>C, NG_007938.1:g.37542T>G, rs59982591, NC_000007.13:g.99245080=, XM_005250197.1:c.806-14A>C, 10369117, NG_007938.1:g.37542T>A +PA166157395 rs4646458 PA134962723 ZSCAN25 NC_000007.14:99647390 1 0 0 0 0 XM_005250197.1:c.806-81T>G, XM_011515910.1:c.806-81T>G, NC_000007.13:g.99245013=, XM_005250198.1:c.805+23210T>G, rs10356239, rs61593903, XR_927402.1:n.1466+23210T>G, NG_007938.1:g.37609A>T, 4646458, XM_011515909.1:c.806-21705T>G, rs4646458, 10356239, NC_000007.13:g.99245013T>G, 117106000, 61593903, rs117106000, NC_000007.14:g.99647390T>A, NG_007938.1:g.37609A>C, NG_007938.1:g.37609=, NC_000007.14:g.99647390T>G, NC_000007.14:g.99647390=, NC_000007.13:g.99245013T>A +PA166153768 rs4646487 PA27119 CYP4B1 NC_000001.11:46813503 1 1 0 0 0 NG_007939.1:g.19506C>T, XP_011539133.1:p.Arg158Trp, NP_001306091.1:p.Arg10Trp, NP_001306092.1:p.Arg10Trp, NC_000001.10:g.47279175=, XP_005270597.1:p.Arg158Trp, NC_000001.11:g.46813503C>T, rs4646487, NM_001319162.1:c.28C>T, XM_011540834.1:c.-181C>T, XP_011539134.1:p.Arg173Trp, XM_011540832.1:c.517C>T, NM_001099772.1:c.517C>T, NP_000770.2:p.Arg173Trp, NC_000001.10:g.47279175C>T, NM_000779.3:c.517C>T, XM_005270540.1:c.472C>T, NC_000001.11:g.46813503=, XR_946559.1:n.604C>T, XM_005270541.1:c.28C>T, NR_135003.1:n.601C>T, NM_001319163.1:c.28C>T, rs57240062, XM_011540831.1:c.472C>T, XP_005270598.1:p.Arg10Trp, NM_001319161.1:c.472C>T, NP_001306090.1:p.Arg158Trp, 4646487, XM_011540833.1:c.-184C>T, NG_007939.1:g.19506=, 57240062, NP_000770.2:p.Arg173=, NP_001093242.1:p.Arg173Trp +PA166165040 rs4646536 PA27099 CYP27B1 NC_000012.12:57764205 2 1 0 0 0 57822640, NC_000012.11:g.58157988=, NG_007076.1:g.7989=, rs4646536, 116847441, NG_007076.1:g.7989T>C, 4646536, NC_000012.11:g.58157988A>G, NC_000012.12:g.57764205=, NC_000012.12:g.57764205A>G +PA166154911 rs4646903 PA27092 CYP1A1 NC_000015.10:74719300 6 1 1 0 0 116877783, rs116877783, NC_000015.10:g.74719300A>G, NG_008431.1:g.1759A>G, NC_000015.9:g.75011641=, 17861083, NG_061374.1:g.11229=, NM_001319217.1:c.*947+242T>C, rs4646903, NM_000499.3:c.*1189T>C, rs5030838, 5030838, rs17861083, XM_005254189.1:c.*1189T>C, NC_000015.9:g.75011641A>T, XM_005254188.1:c.*1189T>C, NG_008431.2:g.1759A>T, NM_001319216.1:c.*1189T>C, XM_005254185.1:c.*1189T>C, NG_008431.2:g.1759=, NM_001319217.1:c.*1189T>C, 4646903, XM_005254186.1:c.*1189T>C, NC_000015.10:g.74719300=, NM_000499.4:c.*1189T>C, NC_000015.9:g.75011641A>G, XM_005254187.1:c.*1189T>C, NG_008431.2:g.1759A>G, NG_061374.1:g.11229T>C, NG_061374.1:g.11229T>A, NM_000499.4:c.*947+242T>C, NC_000015.10:g.74719300A>T, NM_001319216.1:c.*947+242T>C +PA166157103 rs4647198 PA30474,PA435 LTA,TNF NC_000006.12:31574558 1 0 0 0 0 rs4647198, 4647198, NC_000006.12:g.31574558C>T, NM_001159740.2:c.*865C>T, XM_011548440.1:c.*865C>T, XR_952889.1:n.-1860G>A, NT_167249.2:g.2873838C>T, NG_012010.1:g.7460C>T, NG_007462.1:g.3986=, XR_952708.1:n.-1895G>A, XM_011548051.1:c.*865C>T, NT_167246.2:g.2879599C>T, XM_011548050.1:c.*865C>T, NT_167248.2:g.2830377C>T, XM_011548437.1:c.*865C>T, XM_011548436.1:c.*865C>T, NT_167247.2:g.2916456C>T, XR_952245.1:n.-1836G>A, NT_167247.1:g.2922041C>T, XM_011514618.1:c.*865C>T, NC_000006.11:g.31542335C>T, XM_011548438.1:c.*865C>T, XM_011548439.1:c.*865C>T, NC_000006.12:g.31574558=, XM_011547884.1:c.*865C>T, XR_952970.1:n.-1895G>A, XM_011514614.1:c.*865C>T, XM_011514615.1:c.*865C>T, XM_011547883.1:c.*865C>T, rs143866632, XM_011514616.1:c.*865C>T, XM_011514617.1:c.*865C>T, NG_007462.1:g.3986C>T, NT_167249.1:g.2873136C>T, XM_011547654.1:c.*865C>T, XM_011547653.1:c.*865C>T, XM_011547887.1:c.*865C>T, XM_011548242.1:c.*865C>T, 143866632, XM_011547886.1:c.*865C>T, XM_011547885.1:c.*865C>T, XM_011547250.1:c.*865C>T, NT_113891.2:g.3051951C>T, NT_167246.1:g.2885219C>T, NM_000594.3:c.-1184C>T, XR_953113.1:n.-1860G>A, NT_167248.1:g.2835973C>T, XM_011548243.1:c.*865C>T, NC_000006.11:g.31542335=, XR_926695.1:n.-1860G>A, XR_953043.1:n.-1895G>A, NT_167245.1:g.2827876C>T, NG_012010.1:g.7460=, NT_113891.3:g.3051845C>T, NT_167245.2:g.2822291C>T, NM_000595.3:c.*865C>T +PA166171159 rs4647554 PA25978,PA27997 AOPEP,FANCC NC_000009.12:95100419 1 0 0 0 0 NC_000009.11:g.97862701A>T, NG_011707.1:g.222291T>A, NG_011707.1:g.222291T>C, NC_000009.12:g.95100419A>T, NC_000009.11:g.97862701=, NC_000009.12:g.95100419A>G, NC_000009.12:g.95100419=, 58016841, NG_011707.1:g.222291=, NC_000009.11:g.97862701A>G, rs4647554, 4647554 +PA166153770 rs4648276 PA293 PTGS2 NC_000001.11:186676356 1 0 0 0 0 NC_000001.11:g.186676356=, NG_028206.2:g.9072=, NC_000001.10:g.186645488=, NC_000001.11:g.186676356A>C, NM_000963.3:c.970+111T>C, NC_000001.11:g.186676356A>G, NG_028206.2:g.9072T>G, rs4648276, NC_000001.10:g.186645488A>G, 4648276, NG_028206.2:g.9072T>C, NC_000001.10:g.186645488A>C +PA166153771 rs4648287 PA293 PTGS2 NC_000001.11:186674818 1 1 0 0 0 NC_000001.11:g.186674818=, NG_028206.2:g.10610=, NC_000001.10:g.186643950=, rs4648287, NC_000001.11:g.186674818A>G, 4648287, NG_028206.2:g.10610T>C, NM_000963.3:c.1406-56T>C, NC_000001.10:g.186643950A>G +PA166177418 rs4648310 PA293 PTGS2 NC_000001.11:186671393 1 0 0 0 0 NC_000001.10:g.186640525T>G, NG_028206.2:g.14035A>G, NC_000001.10:g.186640525T>C, rs4648310, 17581120, NC_000001.10:g.186640525=, 4648310, NC_000001.11:g.186671393T>C, NC_000001.11:g.186671393T>G, 386594401, NC_000001.11:g.186671393=, NG_028206.2:g.14035A>C, NG_028206.2:g.14035= +PA166154409 rs4648317 PA27478 DRD2 NC_000011.10:113460810 2 0 0 0 0 NM_000795.3:c.-32+14266C>T, rs386594403, NC_000011.10:g.113460810=, 57338776, NG_008841.1:g.19470C>T, NC_000011.9:g.113331532=, NC_000011.9:g.113331532G>A, rs4648317, 4648317, NG_008841.1:g.19470=, NM_016574.3:c.-32+14266C>T, rs57338776, 386594403, NC_000011.10:g.113460810G>A, XM_005271425.1:c.-32+14848C>T +PA166184000 rs4648318 PA27478 DRD2 NC_000011.10:113442667 3 0 0 0 0 NC_000011.10:g.113442667T>A, NC_000011.10:g.113442667T>C, NC_000011.9:g.113313389T>G, NC_000011.9:g.113313389T>A, NG_008841.1:g.37613A>G, NC_000011.9:g.113313389T>C, 56528393, NG_008841.1:g.37613A>T, NG_008841.1:g.37613=, NC_000011.10:g.113442667=, 61022333, rs4648318, 4648318, 117888817, 386594404, NG_008841.1:g.37613A>C, NC_000011.9:g.113313389=, NC_000011.10:g.113442667T>G +PA166160645 rs4652 PA30340 LGALS3 NC_000014.9:55138318 1 0 0 0 0 17857427, NC_000014.8:g.55605036=, 4652, 17349557, NC_000014.8:g.55605036A>C, NG_017089.1:g.14102A>C, NG_017089.1:g.14102=, 59032052, rs4652, NC_000014.9:g.55138318=, NP_002297.2:p.Thr98Pro, NP_002297.2:p.Thr98=, 1042188, 2075600, NC_000014.9:g.55138318A>C +PA166153772 rs4653436 PA27829 EPHX1 NC_000001.11:225807509 3 0 0 0 0 NC_000001.10:g.225995211G>A, NC_000001.10:g.225995211=, NC_000001.11:g.225807509=, rs57171465, 57171465, rs4653436, 4653436, NG_009776.1:g.2415=, NC_000001.11:g.225807509G>A, NG_009776.1:g.2415G>A +PA166153773 rs4654327 PA31942 OPRD1 NC_000001.11:28863626 7 2 0 0 0 NC_000001.11:g.28863626=, NC_000001.10:g.29190138G>T, 59807355, rs59807355, NC_000001.10:g.29190138G>A, NC_000001.11:g.28863626G>A, 4654327, rs4654327, NM_000911.3:c.*343G>A, NC_000001.11:g.28863626G>T, NC_000001.10:g.29190138= +PA166153774 rs4655226 PA98 CDA NC_000001.11:20601791 1 1 0 0 0 NC_000001.11:g.20601791C>T, 4655226, NM_001785.2:c.155-3137C>T, NC_000001.11:g.20601791=, NC_000001.10:g.20928284C>T, rs4655226, NC_000001.10:g.20928284= +PA166153775 rs4655567 NC_000001.11:67635957 2 0 0 0 0 NC_000001.11:g.67635957G>C, 57576059, NC_000001.10:g.68101640=, 57378090, rs57378090, 4655567, rs57576059, NC_000001.10:g.68101640G>C, rs4655567, NC_000001.11:g.67635957= +PA166156921 rs465646 PA34337 REV3L NC_000006.12:111299555 1 0 0 0 0 rs59824672, NM_002912.4:c.*461C>T, XR_942871.1:n.2045+21397G>A, NC_000006.11:g.111620758=, XM_005267089.1:c.*461C>T, XM_011536029.1:c.*461C>T, XM_011536032.1:c.*461C>T, XM_005267088.1:c.*461C>T, XM_011536028.1:c.*461C>T, XM_011536031.1:c.*461C>T, XM_011536030.1:c.*461C>T, rs17511609, NC_000006.11:g.111620758G>A, NC_000006.12:g.111299555G>A, NG_053000.1:g.189161C>T, rs465646, 465646, NC_000006.12:g.111299555=, NG_053000.1:g.189161=, XM_006715544.2:c.*461C>T, 59824672, NM_001286431.1:c.*461C>T, NM_001286432.1:c.*461C>T, 17511609, rs3805825, 3805825, XM_006715543.2:c.*461C>T +PA166179064 rs4657437 PA34892 RXRG NC_000001.11:165414384 1 0 0 0 0 NC_000001.11:g.165414384C>A, NG_029517.1:g.35972=, NC_000001.10:g.165383621=, NG_029517.1:g.35972G>T, NG_029517.2:g.35972G>A, NC_000001.10:g.165383621C>T, NC_000001.11:g.165414384C>T, 4657437, NG_029517.2:g.35972=, NG_029517.2:g.35972G>T, rs4657437, NC_000001.11:g.165414384=, NC_000001.10:g.165383621C>A, NG_029517.1:g.35972G>A +PA166153544 rs4658 PA35875 SLC2A1 NC_000001.11:42926579 1 0 0 0 0 rs3768028, 56807926, XM_005271135.1:c.*125G>C, rs3198989, 3198989, NG_008232.1:g.37598=, NC_000001.11:g.42926579=, NC_000001.10:g.43392250C>T, NC_000001.11:g.42926579C>T, rs56807926, NC_000001.10:g.43392250=, NM_006516.2:c.*462G>C, NG_008232.1:g.37598G>A, rs16830055, NG_008232.1:g.37598G>C, rs4658, NC_000001.11:g.42926579C>G, 3768028, 4658, 16830055, NC_000001.10:g.43392250C>G +PA166182353 rs4659982 PA134968998 GREM2 NC_000001.11:240566955 1 1 0 0 0 NG_053136.1:g.50418A>T, 4659982, rs4659982, NC_000001.11:g.240566955T>A, NC_000001.11:g.240566955T>C, NG_053136.1:g.50418=, 7366796, NC_000001.10:g.240730255T>C, NG_053136.1:g.50418A>G, NC_000001.10:g.240730255T>A, NC_000001.11:g.240566955=, 56985895, NC_000001.10:g.240730255= +PA166162370 rs4661012 PA162399233 PEAR1 NC_000001.11:156915699 1 1 0 0 0 NC_000001.10:g.156885491T>G, NC_000001.10:g.156885491=, 9330275, rs4661012, NC_000001.11:g.156915699=, 4661012, NC_000001.11:g.156915699T>G +PA166165139 rs4671393 PA25300 BCL11A NC_000002.12:60493816 1 0 0 0 0 NC_000002.11:g.60720951A>T, NG_011968.1:g.64683=, NC_000002.12:g.60493816A>C, NC_000002.12:g.60493816A>T, NC_000002.11:g.60720951A>G, NC_000002.11:g.60720951A>C, 52835308, NC_000002.12:g.60493816=, 4671393, rs4671393, 118120356, NC_000002.12:g.60493816A>G, NG_011968.1:g.64683T>G, NC_000002.11:g.60720951=, NG_011968.1:g.64683T>C, NG_011968.1:g.64683T>A +PA166154969 rs4673 PA27075 CYBA NC_000016.10:88646828 7 4 0 0 0 rs386594564, NC_000016.10:g.88646828=, 4673, rs11266997, 11266997, NG_007291.1:g.9222T>A, NG_007291.1:g.9222T>C, NP_000092.2:p.Tyr72Asn, NM_000101.2:c.214T>C, rs59455247, NC_000016.9:g.88713236=, NG_007291.1:g.9222=, NC_000016.10:g.88646828A>T, NC_000016.9:g.88713236A>G, rs2228471, 4782392, 59455247, rs4782392, rs4673, rs1130413, 2228471, 1130413, NC_000016.10:g.88646828A>G, rs2242272, 2242272, NC_000016.9:g.88713236A>T, 386594564, NP_000092.2:p.Tyr72His, XM_011522905.1:c.214T>C, NP_000092.2:p.Tyr72=, 3189211, XP_011521207.1:p.Tyr72His, rs3189211, NM_000101.3:c.214T>C +PA166179154 rs4673990 PA25094 ATIC NC_000002.12:215341330 1 0 0 0 0 NC_000002.12:g.215341330=, 56916338, NC_000002.12:g.215341330A>G, NG_013002.1:g.34375=, rs4673990, NG_013002.1:g.34375A>G, 74269407, 4673990, NC_000002.11:g.216206053=, 17514159, NC_000002.11:g.216206053A>G +PA166155733 rs4673993 PA25094 ATIC NC_000002.12:215347616 7 1 0 0 0 NC_000002.12:g.215347616T>G, NG_013002.1:g.40661=, 17448559, rs58608144, NC_000002.11:g.216212339T>A, 58608144, NC_000002.11:g.216212339T>C, NG_013002.1:g.40661T>A, NC_000002.12:g.215347616=, NG_013002.1:g.40661T>C, NC_000002.11:g.216212339T>G, NG_013002.1:g.40661T>G, NM_004044.6:c.1503+675T>C, NC_000002.12:g.215347616T>A, NC_000002.11:g.216212339=, rs4673993, NC_000002.12:g.215347616T>C, rs17448559, 4673993 +PA166181233 rs4674470 PA165696875 MIR4268 NC_000002.12:219906502 1 0 0 0 0 NC_000002.12:g.219906502C>A, rs4674470, NC_000002.11:g.220771223=, 4674470, NC_000002.11:g.220771223C>T, NC_000002.12:g.219906502C>G, NG_053787.1:g.239C>G, NG_053787.1:g.239=, NG_053787.1:g.239C>A, NC_000002.12:g.219906502C>T, NC_000002.11:g.220771223C>G, NG_053787.1:g.239C>T, 60124850, NC_000002.12:g.219906502=, NC_000002.11:g.220771223C>A +PA166155734 rs4675690 PA26864 CREB1 NC_000002.12:207643083 2 1 0 0 0 NC_000002.12:g.207643083C>T, 4675690, rs4675690, rs59133925, NC_000002.11:g.208507807=, 59133925, NC_000002.11:g.208507807C>T, NC_000002.12:g.207643083= +PA166163762 rs4678145 PA165697843,PA363 MIR544B,UMPS NC_000003.12:124731234 1 1 0 0 0 58006800, rs4678145, 4678145, 17412184, NG_017037.1:g.5869=, NG_017037.1:g.5869G>C, NG_017037.1:g.5869G>A, NC_000003.12:g.124731234G>A, NC_000003.12:g.124731234G>C, 17843782, NC_000003.12:g.124731234=, NC_000003.11:g.124450081=, NC_000003.11:g.124450081G>A, NC_000003.11:g.124450081G>C +PA166156024 rs4680 PA117 COMT NC_000022.11:19963748 143 43 0 1 0 rs2070104, 2070104, NP_000745.1:p.Val158Met, XM_011529890.1:c.472G>A, XP_011528190.1:p.Val158Met, 17850006, 11544671, rs17849308, XP_011528187.1:p.Val196Met, XP_011528191.1:p.Val158Met, NG_011526.1:g.27009=, 3177905, rs58002978, rs17295216, rs3177905, XM_011529889.1:c.472G>A, rs17818178, NG_011526.1:g.27009G>A, 17349704, rs3190784, 165688, rs3747070, NM_001135161.1:c.472G>A, XM_011529888.1:c.472G>A, XP_011528188.1:p.Val196Met, NC_000022.10:g.19951271G>A, XP_005261286.1:p.Val158Met, rs1131157, 1131157, XM_005261229.1:c.472G>A, NP_001128634.1:p.Val158Met, XM_011529885.1:c.586G>A, XM_011529887.1:c.472G>A, rs4680, XP_011528189.1:p.Val158Met, 17849308, 58002978, NC_000022.10:g.19951271=, 17818178, XM_011529891.1:c.472G>A, NM_000754.3:c.472G>A, XP_011528193.1:p.Val158Met, NM_001135162.1:c.472G>A, rs11544671, NM_007310.2:c.322G>A, 4680, NP_009294.1:p.Val108Met, rs165688, rs17349704, 3190784, 3747070, 17295216, NR_039918.1:n.-5G>A, NP_000745.1:p.Val158=, XM_011529886.1:c.586G>A, XP_011528192.1:p.Val158Met, NP_001128633.1:p.Val158Met, rs17850006, NC_000022.11:g.19963748=, NC_000022.11:g.19963748G>A +PA166156400 rs4680662 PA25294 BCHE NC_000003.12:165798762 1 0 0 0 0 NM_000055.2:c.1518-12451T>C, NC_000003.12:g.165798762A>T, rs4680662, NG_009031.1:g.43704T>C, NG_009031.1:g.43704T>G, XM_005247685.1:c.1641-12451T>C, 4680662, 13084030, NC_000003.11:g.165516550A>T, NC_000003.12:g.165798762A>C, NG_009031.1:g.43704=, NC_000003.11:g.165516550=, NC_000003.12:g.165798762A>G, NC_000003.11:g.165516550A>G, rs13084030, NC_000003.12:g.165798762=, NG_009031.1:g.43704T>A, NC_000003.11:g.165516550A>C +PA166156402 rs4688040 PA378 NR1I2 NC_000003.12:119805244 1 1 0 0 0 NC_000003.11:g.119524091G>T, NC_000003.12:g.119805244G>A, NM_003889.3:c.-22-1985G>T, NM_022002.2:c.96-1985G>T, NG_011856.1:g.29761=, NC_000003.12:g.119805244G>C, NG_011856.1:g.29761G>C, rs4688040, NC_000003.12:g.119805244=, NC_000003.11:g.119524091G>C, 4688040, NC_000003.11:g.119524091G>A, NC_000003.12:g.119805244G>T, NG_011856.1:g.29761G>T, XM_005247866.1:c.-187-1985G>T, NM_033013.2:c.-22-1985G>T, NG_011856.1:g.29761G>A, NC_000003.11:g.119524091= +PA166156593 rs4693075 PA142672084 COQ2 NC_000004.12:83271015 4 1 0 0 0 XM_011531860.1:c.779-1022C>G, NC_000004.11:g.84192168G>T, NG_015825.1:g.18900C>T, XM_005262926.1:c.425-1022C>G, XM_011531859.1:c.779-1022C>G, XM_011531863.1:c.779-1022C>G, NM_015697.7:c.779-1022C>G, XM_011531856.1:c.779-1022C>G, NG_015825.1:g.18900=, XM_011531865.1:c.779-1022C>G, NG_015825.1:g.18900C>G, NC_000004.11:g.84192168G>A, NC_000004.11:g.84192168G>C, XM_011531867.1:c.425-1022C>G, rs4693075, rs58141687, 4693075, NC_000004.11:g.84192168=, XM_011531855.1:c.779-1022C>G, XM_011531861.1:c.779-1022C>G, XM_011531858.1:c.779-1022C>G, NG_015825.1:g.18900C>A, NC_000004.12:g.83271015G>A, XM_011531864.1:c.779-1022C>G, NC_000004.12:g.83271015=, 58141687, XR_938721.1:n.949-1022C>G, XM_005262927.1:c.299-1022C>G, XM_011531857.1:c.779-1022C>G, NC_000004.12:g.83271015G>C, XM_011531862.1:c.779-1022C>G, XR_427543.2:n.938-1022C>G, XM_011531866.1:c.779-1022C>G, NC_000004.12:g.83271015G>T +PA166156594 rs4693570 NC_000004.12:83170698 1 0 0 0 0 NC_000004.11:g.84091851T>A, NC_000004.11:g.84091851=, 60171905, rs4693570, rs60171905, 4693570, XM_011531867.1:c.1022-31192A>G, NC_000004.12:g.83170698T>C, NC_000004.12:g.83170698=, NC_000004.11:g.84091851T>C, XM_011531855.1:c.1376-31192A>G, NC_000004.12:g.83170698T>A, NC_000004.12:g.83170698T>G, NC_000004.11:g.84091851T>G +PA166156595 rs4694362 PA137 DCK NC_000004.12:71028147 3 1 0 0 0 NM_000788.2:c.757-1205C>T, NC_000004.12:g.71028147=, NG_023303.1:g.39600C>T, 57682199, NG_023303.1:g.39600=, NC_000004.12:g.71028147C>T, 17687207, 59821207, NC_000004.11:g.71893864C>T, rs4694362, 4694362, XM_005265649.1:c.574-1205C>T, NC_000004.11:g.71893864=, rs17687207, rs57682199, rs59821207 +PA166281421 rs469490 NC_000021.9:26235946 1 0 0 0 0 rs469490, NG_007487.2:g.69C>A, 60995957, NC_000021.9:g.26235946G>T, NG_007487.2:g.69C>T, 469490, NG_007487.2:g.69=, NC_000021.8:g.27608265G>A, NC_000021.9:g.26235946=, NC_000021.9:g.26235946G>A, NC_000021.8:g.27608265=, NC_000021.8:g.27608265G>T +PA166256486 rs4696 PA29286 HINT1 NC_000005.10:131165149 1 0 0 0 0 1047422, NC_000005.10:g.131165149=, NC_000005.9:g.130500842A>G, 4696, NC_000005.10:g.131165149A>G, NC_000005.9:g.130500842=, 61326943, NG_032998.1:g.5200=, rs4696, NG_032998.1:g.5200T>C, NP_005331.1:p.Phe19=, 17164222, 11558043, 3175958 +PA166156596 rs4696480 PA36550 TLR2 NC_000004.12:153685974 2 2 0 0 0 XM_005263197.1:c.-104+1614T>A, XM_011532216.1:c.-17+1614T>A, rs61645525, rs5743686, NG_016229.1:g.6686T>A, NG_016229.1:g.6686=, rs4696480, 5743686, 4696480, NM_001318793.1:c.-148+1637T>A, NC_000004.11:g.154607126=, NM_001318791.1:c.-129+1614T>A, NC_000004.12:g.153685974=, NC_000004.11:g.154607126T>A, XM_005263195.1:c.-89+1614T>A, XM_005263194.1:c.-163+1614T>A, XM_011532215.1:c.-70+1614T>A, NM_001318787.1:c.-373+1614T>A, XM_005263194.2:c.-163+1614T>A, XM_005263196.2:c.-129+1614T>A, NM_001318790.1:c.-163+1637T>A, NM_001318789.1:c.-163+1614T>A, 61645525, NM_003264.4:c.-148+1614T>A, NM_001318795.1:c.-104+1614T>A, NM_001318796.1:c.-89+1614T>A, XM_005263197.2:c.-104+1614T>A, NC_000004.12:g.153685974T>A, XM_005263195.2:c.-89+1614T>A, XM_005263196.1:c.-129+1614T>A +PA166156597 rs4698803 PA27664 EGF NC_000004.12:109993271 1 0 0 0 0 rs17253807, XM_005262796.2:c.2759A>T, NC_000004.12:g.109993271A>T, NG_011441.1:g.85388=, NP_001954.2:p.Glu920Gly, XM_005262797.2:c.2633A>T, XM_005262800.2:c.2516A>T, NP_001954.2:p.Glu920Val, XM_005262798.1:c.2516A>T, XP_005262857.1:p.Glu839Val, NP_001954.2:p.Glu920=, XP_006714187.1:p.Glu920Val, XP_005262853.1:p.Glu920Val, NC_000004.12:g.109993271=, NG_011441.1:g.85388A>T, XM_005262800.1:c.2516A>T, NG_011441.1:g.85388A>G, rs58275734, 52809851, XM_011531708.1:c.2734+4562A>T, XR_427532.2:n.3187+4562A>T, NC_000004.12:g.109993271A>G, XM_005262798.2:c.2516A>T, NG_011441.2:g.85388A>G, NP_001171602.1:p.Glu878Val, 58275734, NC_000004.11:g.110914427A>T, rs52809851, XP_005262856.1:p.Glu920Val, NM_001178131.2:c.2633A>T, XP_005262855.1:p.Glu839Val, XP_005262854.1:p.Glu878Val, XM_011531707.1:c.2648A>T, XR_938699.1:n.3187+4562A>T, NG_011441.2:g.85388A>T, XM_005262799.1:c.2759A>T, 4698803, rs4698803, NC_000004.11:g.110914427=, NG_011441.2:g.85388=, XM_006714124.2:c.2759A>T, XM_005262797.1:c.2633A>T, XM_005262796.1:c.2759A>T, XM_005262801.1:c.2491+9730A>T, 17253807, NC_000004.11:g.110914427A>G, NM_001963.5:c.2759A>T, XM_005262801.2:c.2491+9730A>T, NM_001178130.2:c.2735-1462A>T, XP_011530009.1:p.Glu883Val +PA166203404 rs4699030 PA248 NFKB1 NC_000004.12:102582667 1 0 0 0 0 rs4699030, NG_050628.1:g.86339G>A, NC_000004.12:g.102582667G>C, NC_000004.11:g.103503824G>A, NC_000004.12:g.102582667=, NC_000004.11:g.103503824G>C, 4699030, NG_050628.1:g.86339G>C, 60942356, NC_000004.12:g.102582667G>A, NG_050628.1:g.86339=, NC_000004.11:g.103503824=, 57508686 +PA166156052 rs470119 PA29863,PA162407502 IMPDH2,TYMP NC_000022.11:50528485 1 0 0 0 0 NG_011860.1:g.6601A>T, 58161200, NM_001257988.1:c.516+27A>G, NC_000022.10:g.50966914T>G, NM_001953.4:c.516+27A>G, NM_001257989.1:c.516+27A>G, rs470119, NC_000022.11:g.50528485=, rs56469193, NM_001113755.2:c.516+27A>G, 56469193, NG_011860.1:g.6601A>C, NG_016235.1:g.2955A>T, NC_000022.10:g.50966914T>C, rs58161200, NC_000022.11:g.50528485T>A, NC_000022.11:g.50528485T>C, NG_016235.1:g.2955A>G, NG_011860.1:g.6601A>G, 470119, NC_000022.11:g.50528485T>G, NC_000022.10:g.50966914T>A, NM_001113756.2:c.516+27A>G, NG_016235.1:g.2955=, NC_000022.10:g.50966914=, NG_011860.1:g.6601=, NG_016235.1:g.2955A>C +PA166156831 rs4702484 PA24561 ADCY2 NC_000005.10:7649747 2 1 0 0 0 XM_011513942.1:c.720+23431C>T, 57296477, NC_000005.9:g.7649860=, NC_000005.9:g.7649860C>T, NC_000005.10:g.7649747C>T, NG_046913.1:g.258518=, XR_427657.2:n.734+23431C>T, rs4702484, 4702484, NG_046913.1:g.258518C>T, NM_020546.2:c.720+23431C>T, rs57296477, NC_000005.10:g.7649747= +PA166156833 rs4704559 PA134972608 HOMER1 NC_000005.10:79517086 3 1 0 0 0 NC_000005.9:g.78812909=, NC_000005.10:g.79517086A>G, NC_000005.9:g.78812909A>G, 4704559, rs4704559, NC_000005.10:g.79517086= +PA166156834 rs4704560 PA134972608 HOMER1 NC_000005.10:79517927 1 0 0 0 0 NC_000005.9:g.78813750C>T, 4704560, NC_000005.9:g.78813750=, NC_000005.9:g.78813750C>G, NC_000005.10:g.79517927=, rs4704560, NC_000005.10:g.79517927C>T, rs17210807, NC_000005.10:g.79517927C>G, 17210807 +PA166157104 rs4713916 PA28162 FKBP5 NC_000006.12:35702206 4 4 0 0 0 17230143, NC_000006.12:g.35702206A>T, rs35464630, NC_000006.11:g.35669983A>G, NG_012645.2:g.31378=, rs9470083, 9470083, NC_000006.11:g.35669983A>C, NM_001145775.2:c.-20+18122T>C, 4713916, 35464630, rs4713916, NC_000006.12:g.35702206=, NG_012645.2:g.31378T>A, rs17230143, NC_000006.12:g.35702206A>G, NG_012645.2:g.31378T>C, NC_000006.12:g.35702206A>C, NC_000006.11:g.35669983=, NG_012645.2:g.31378T>G, NC_000006.11:g.35669983A>T +PA166202963 rs4714684 PA24392 ABCC10 NC_000006.12:43429118 1 0 0 0 0 rs4714684, 61350816, 4714684, NC_000006.12:g.43429118=, NC_000006.12:g.43429118A>T, NC_000006.12:g.43429118A>C, 59092520, NC_000006.11:g.43396856=, NC_000006.11:g.43396856A>C, 17287921, NC_000006.11:g.43396856A>T +PA166157105 rs4715354 PA134962856 GSTA5 NC_000006.12:52843999 1 0 0 0 0 rs4715354, NC_000006.12:g.52843999=, 4715354, NC_000006.11:g.52708797=, rs17268789, NC_000006.11:g.52708797G>C, NC_000006.11:g.52708797G>A, NC_000006.12:g.52843999G>C, NC_000006.12:g.52843999G>A, rs58826387, NM_153699.1:c.-31+2057C>T, 58826387, 17268789 +PA166182211 rs471760 PA98 CDA NC_000001.11:20590713 1 1 0 0 0 59775280, NC_000001.11:g.20590713G>A, rs471760, 386594865, 471760, NC_000001.10:g.20917206G>A, NC_000001.11:g.20590713=, NC_000001.10:g.20917206= +PA166154273 rs471767 PA266 PGR NC_000011.10:101034566 1 0 0 0 0 NC_000011.9:g.100905297G>A, NG_016475.1:g.100248=, rs471767, NM_001271161.2:c.*4550C>T, NC_000011.9:g.100905297G>C, NM_001202474.3:c.*4550C>T, NR_073142.2:n.7176C>T, 57733164, NG_016475.1:g.100248C>G, 471767, NR_073143.2:n.6908C>T, NC_000011.10:g.101034566=, NM_001271162.1:c.*4550C>T, rs57733164, NC_000011.9:g.100905297=, NG_016475.1:g.100248C>T, NM_000926.4:c.*4550C>T, NR_073141.2:n.7293C>T, NC_000011.10:g.101034566G>A, NC_000011.10:g.101034566G>C +PA166157396 rs4720833 PA30540 MAFK NC_000007.14:1534767 2 1 0 0 0 rs4720833, NC_000007.14:g.1534767=, 4720833, NC_000007.14:g.1534767A>C, 57926061, NC_000007.13:g.1574403=, NM_002360.3:c.-45+3869A>G, 10359168, XM_005249851.1:c.-2609A>G, NC_000007.13:g.1574403A>T, NC_000007.14:g.1534767A>G, NC_000007.14:g.1534767A>T, rs57926061, XR_108727.1:n.114T>C, NC_000007.13:g.1574403A>C, NC_000007.13:g.1574403A>G, rs10359168 +PA166160097 rs4725061 PA38657 GLCCI1 NC_000007.14:8047009 1 0 0 0 0 NG_032073.1:g.83266A>G, 61198734, NC_000007.14:g.8047009A>T, NC_000007.13:g.8086639A>T, 10370254, NG_032073.1:g.83266=, NC_000007.14:g.8047009=, 4725061, NG_032073.1:g.83266A>T, rs4725061, NC_000007.13:g.8086639=, NC_000007.14:g.8047009A>G, NC_000007.13:g.8086639A>G +PA166160143 rs4725068 PA38657 GLCCI1 NC_000007.14:8088080 1 0 0 0 0 rs4725068, 17151597, NC_000007.14:g.8088080G>A, NC_000007.13:g.8127710G>A, NG_032073.1:g.124337=, NC_000007.13:g.8127710=, 4725068, NG_032073.1:g.124337G>A, NC_000007.14:g.8088080=, 10385601 +PA166157257 rs472660 PA427 CYP3A43 NC_000007.14:99862484 5 1 0 0 0 NC_000007.13:g.99460107G>A, rs10356653, NC_000007.14:g.99862484=, NM_022820.4:c.1253+645G>A, NC_000007.14:g.99862484G>A, XM_011516493.1:c.1254-374G>A, XM_011516494.1:c.833+645G>A, 57847390, rs472660, 10356653, NM_001278921.1:c.923+645G>A, NM_057096.3:c.1253+645G>A, NG_007935.1:g.39472=, NR_103868.1:n.1213+645G>A, NG_007935.1:g.39472G>A, 472660, NC_000007.13:g.99460107=, NR_103869.1:n.1477+645G>A, NM_057095.2:c.1253+645G>A, rs57847390 +PA166157397 rs4727494 PA134887081 COL26A1 NC_000007.14:101438517 1 0 0 0 0 NM_001278563.2:c.282-9167G>A, rs386594931, NC_000007.14:g.101438517G>A, 56608486, NG_033785.2:g.80698G>C, NG_033785.2:g.80698G>A, NC_000007.14:g.101438517G>C, NC_000007.13:g.101081798G>C, NG_033785.2:g.80698=, NC_000007.13:g.101081798G>A, rs59039408, NC_000007.14:g.101438517=, rs9649225, rs56608486, 9649225, NC_000007.13:g.101081798=, 386594931, 59039408, NM_133457.4:c.282-9173G>A, rs4727494, 4727494 +PA166157398 rs4728709 PA267 ABCB1 NC_000007.14:87604286 6 2 0 0 0 NM_000927.4:c.-330-3208C>T, NG_011513.1:g.113963=, rs56710587, 56490249, NG_011513.1:g.113963C>T, rs4728709, 10374943, 56710587, 4728709, NC_000007.13:g.87233602G>A, NC_000007.14:g.87604286G>A, rs10374943, NC_000007.14:g.87604286=, rs56490249, NC_000007.13:g.87233602= +PA166157399 rs4729562 NC_000007.14:99986027 1 0 0 0 0 NC_000007.14:g.99986027G>T, NC_000007.13:g.99583650G>A, NC_000007.13:g.99583650G>C, 60441031, rs56460152, 41437447, NC_000007.14:g.99986027G>C, NC_000007.13:g.99583650=, NC_000007.14:g.99986027=, rs60441031, NC_000007.14:g.99986027G>A, rs41437447, 56460152, NC_000007.13:g.99583650G>T, rs4729562, 4729562 +PA166157400 rs4731426 PA228 LEP NC_000007.14:128242017 1 1 0 0 0 17533479, XM_005250340.3:c.-29+711G>C, XM_005250340.1:c.-29+711G>C, NC_000007.13:g.127882070G>A, NG_007450.1:g.5740G>T, NC_000007.14:g.128242017G>A, NC_000007.14:g.128242017=, NC_000007.14:g.128242017G>T, 58681052, NC_000007.13:g.127882070G>T, NC_000007.13:g.127882070=, NG_007450.1:g.5740G>A, NM_000230.2:c.-29+711G>C, rs4731426, NG_007450.1:g.5740G>C, rs17533479, 4731426, NC_000007.14:g.128242017G>C, NG_007450.1:g.5740=, NC_000007.13:g.127882070G>C, rs58681052 +PA166157401 rs4731448 PA29862 IMPDH1 NC_000007.14:128401285 2 0 0 0 0 rs59964737, NC_000007.14:g.128401285A>C, NM_183243.2:c.295-169T>C, XM_011516156.1:c.-807T>C, XM_011516157.1:c.-807T>C, NC_000007.14:g.128401285A>G, NM_001142576.1:c.304-169T>C, NC_000007.13:g.128041339=, XM_005250314.1:c.172-169T>C, NM_001304521.1:c.196-169T>C, XM_005250315.1:c.148-169T>C, NG_009194.1:g.13698T>C, XM_006715970.2:c.196-169T>C, 60262971, NG_009194.1:g.13698T>A, NG_009194.1:g.13698=, NG_009194.1:g.13698T>G, NM_001142575.1:c.148-169T>C, NC_000007.14:g.128401285=, rs60262971, 59964737, NM_001142574.1:c.148-169T>C, NM_000883.3:c.403-169T>C, XM_005250316.1:c.-238-169T>C, XM_005250313.1:c.196-169T>C, NC_000007.13:g.128041339A>C, XM_006715967.1:c.403-169T>C, NC_000007.13:g.128041339A>G, XM_006715969.1:c.295-169T>C, NM_001102605.1:c.373-169T>C, rs4731448, 4731448, NM_001142573.1:c.148-169T>C, NC_000007.13:g.128041339A>T, NC_000007.14:g.128401285A>T, XM_006715968.1:c.373-169T>C, XM_006715971.1:c.172-169T>C +PA166218621 rs4732636 NC_000008.11:28310063 1 2 0 0 0 NC_000008.11:g.28310063C>A, 386594970, NC_000008.11:g.28310063C>T, rs4732636, 4732636, NC_000008.10:g.28167580C>T, NC_000008.10:g.28167580C>G, NC_000008.11:g.28310063C>G, NC_000008.11:g.28310063=, NC_000008.10:g.28167580=, NC_000008.10:g.28167580C>A +PA166170632 rs4735715 NC_000008.11:74602319 1 0 0 0 0 4735715, rs4735715, NC_000008.11:g.74602319G>A, NC_000008.10:g.75514554G>A, 6472868, NC_000008.10:g.75514554=, NC_000008.11:g.74602319= +PA166268443 rs4736529 PA162384422 EFR3A NC_000008.11:132010916 1 1 0 0 0 NC_000008.10:g.133023163G>T, NG_028112.2:g.111808G>C, 61194903, NG_028112.2:g.111808G>A, NC_000008.10:g.133023163=, NC_000008.11:g.132010916G>T, 61210689, 4736529, NC_000008.11:g.132010916=, NC_000008.10:g.133023163G>C, NG_028112.2:g.111808G>T, rs4736529, NG_028112.2:g.111808=, NC_000008.10:g.133023163G>A, NC_000008.11:g.132010916G>C, NC_000008.11:g.132010916G>A +PA166157606 rs4737771 PA119 CRH NC_000008.11:66280144 1 1 0 0 0 60136967, NC_000008.11:g.66280144T>C, rs60136967, NC_000008.11:g.66280144=, NC_000008.10:g.67192379=, NC_000008.10:g.67192379T>C, XR_929012.1:n.136-15810A>G, 4737771, rs4737771, XR_428359.2:n.136-15810A>G, XR_929013.1:n.136-15810A>G +PA166156479 rs4742 PA138 DCTD NC_000004.12:182894535 4 0 0 0 0 57636648, NC_000004.12:g.182894535=, NC_000004.12:g.182894535A>G, XM_011531675.1:c.138T>C, XP_006714178.1:p.Val46=, XM_005262779.2:c.315T>C, NC_000004.12:g.182894535A>C, NM_001012732.1:c.348T>C, NP_001012750.1:p.Val116=, XM_006714115.2:c.138T>C, XM_005262780.1:c.315T>C, XM_005262778.1:c.348T>C, XP_011529978.1:p.Val46=, NC_000004.11:g.183815688=, XM_011531674.1:c.315T>C, rs1130879, NM_001921.2:c.315T>C, 3190286, XM_005262781.3:c.138T>C, NC_000004.12:g.182894535A>T, rs117549811, XP_005262839.1:p.Val46=, 17849459, XM_006714116.2:c.138T>C, XM_005262780.2:c.315T>C, XP_005262838.1:p.Val46=, NC_000004.11:g.183815688A>C, XP_011529977.1:p.Val46=, NP_001912.2:p.Val105=, XM_005262778.2:c.348T>C, NC_000004.11:g.183815688A>G, XM_005262779.1:c.315T>C, XP_005262837.1:p.Val105=, XP_005262836.1:p.Val105=, NC_000004.11:g.183815688A>T, 4742, 7663494, rs7663494, XM_005262782.1:c.138T>C, XM_011531677.1:c.138T>C, 117549811, XP_006714179.1:p.Val46=, XP_011529976.1:p.Val105=, 1130879, rs17849459, XP_011529979.1:p.Val46=, rs3190286, XM_011531676.1:c.138T>C, rs57636648, rs4742, XM_005262782.2:c.138T>C, XP_005262835.1:p.Val116=, XM_005262781.1:c.138T>C +PA166157776 rs4742610 PA34013 PTPRD NC_000009.12:9687487 1 1 0 0 0 rs4742610, XM_011517980.1:c.-287+79323G>A, NC_000009.11:g.9687487=, XM_011517992.1:c.-287+47046G>A, 4742610, XM_005251529.1:c.-287+47046G>A, NC_000009.11:g.9687487C>G, 57100167, NC_000009.12:g.9687487C>G, NM_002839.3:c.-287+47046G>A, NC_000009.12:g.9687487C>T, XM_005251533.1:c.-287+47046G>A, NC_000009.12:g.9687487=, NG_033963.1:g.930237G>A, NG_033963.1:g.930237G>C, rs57100167, NG_033963.1:g.930237=, NC_000009.11:g.9687487C>T +PA166154057 rs4750316 PA33773 PRKCQ NC_000010.11:6351298 1 0 0 0 0 XR_242715.1:n.1710C>G, rs61718694, NC_000010.10:g.6393260C>T, 56902976, NC_000010.11:g.6351298C>G, 61718694, rs4750316, 4750316, XR_242715.2:n.3074C>G, NC_000010.10:g.6393260C>G, NC_000010.11:g.6351298=, rs56902976, NC_000010.10:g.6393260=, NC_000010.11:g.6351298C>T +PA166154058 rs4751104 PA239 MGMT NC_000010.11:129607094 1 0 0 0 0 NM_002412.4:c.218+70717G>A, 61466356, XM_005252682.1:c.125+70717G>A, rs61466356, NG_052673.1:g.144911G>A, NC_000010.10:g.131405358G>A, NC_000010.11:g.129607094G>A, NC_000010.10:g.131405358=, rs4751104, 4751104, XM_011539817.1:c.-3-39668G>A, NC_000010.11:g.129607094=, XM_006717863.2:c.-125-39668G>A, XM_005252682.2:c.125+70717G>A, NG_052673.1:g.144911= +PA166154059 rs4752219 PA27699 EIF3A NC_000010.11:118856049 1 1 0 0 0 rs60729048, NC_000010.11:g.118856049C>T, NC_000010.10:g.120615561C>T, 56609528, NC_000010.10:g.120615561=, NC_000010.11:g.118856049=, 60729048, NC_000010.11:g.118856049C>G, rs4752219, XR_946355.1:n.122+10138G>A, 4752219, rs56609528, NC_000010.10:g.120615561C>G +PA166154060 rs4752220 PA27699 EIF3A NC_000010.11:118856097 1 1 0 0 0 4752220, NC_000010.11:g.118856097A>G, NC_000010.11:g.118856097=, rs60249979, 60249979, NC_000010.11:g.118856097A>T, NC_000010.10:g.120615609=, NC_000010.10:g.120615609A>G, rs4752220, XR_946355.1:n.122+10090T>C, NC_000010.10:g.120615609A>T +PA166154061 rs4752269 PA27699,PA180 EIF3A,GRK5 NC_000010.11:119278440 1 0 0 0 0 rs17606964, 57284838, NC_000010.11:g.119278440C>G, NC_000010.10:g.121037952C>G, NC_000010.11:g.119278440C>T, XM_005269708.1:c.52+70471C>T, NC_000010.11:g.119278440=, 17606964, rs4752269, rs57284838, 4752269, NC_000010.10:g.121037952=, NM_005308.2:c.53-48076C>T, NC_000010.10:g.121037952C>T, XM_005269707.1:c.53-48076C>T +PA166274204 rs4752292 PA180 GRK5 NC_000010.11:119340641 1 1 0 0 0 NC_000010.11:g.119340641T>G, NC_000010.10:g.121100153T>G, 57915777, NC_000010.11:g.119340641=, rs4752292, 4752292, NC_000010.10:g.121100153= +PA166154594 rs4759314 PA162391575 HOTAIR NC_000012.12:53968051 1 0 0 0 0 NC_000012.12:g.53968051=, NC_000012.12:g.53968051G>A, 58946394, NC_000012.11:g.54361835G>T, rs4759314, 4759314, NC_000012.12:g.53968051G>T, rs58946394, NC_000012.11:g.54361835G>C, NC_000012.11:g.54361835G>A, NR_003716.3:n.140+566C>T, NR_047518.1:n.298+566C>T, NR_047517.1:n.199+566C>T, NC_000012.12:g.53968051G>C, NC_000012.11:g.54361835= +PA166179080 rs4760648 PA37301 VDR NC_000012.12:47886882 1 0 0 0 0 NG_008731.1:g.23150G>A, NC_000012.11:g.48280665C>T, NG_008731.1:g.23150G>C, NC_000012.12:g.47886882C>A, 59114028, NC_000012.11:g.48280665=, NC_000012.12:g.47886882C>G, rs4760648, NC_000012.11:g.48280665C>A, 4760648, NG_008731.1:g.23150=, NC_000012.11:g.48280665C>G, NG_008731.1:g.23150G>T, NC_000012.12:g.47886882=, NC_000012.12:g.47886882C>T +PA166176700 rs4760658 PA37301 VDR NC_000012.12:47902703 1 1 0 0 0 NC_000012.11:g.48296486=, NC_000012.11:g.48296486A>G, 4760658, NG_008731.1:g.7329T>C, rs4760658, NC_000012.12:g.47902703A>G, NG_008731.1:g.7329=, 17887228, 56690694, NC_000012.12:g.47902703= +PA166232242 rs4760820 PA128747823 TPH2 NC_000012.12:72003216 1 0 0 0 0 NG_008279.1:g.69371C>G, NC_000012.12:g.72003216C>G, NG_008279.1:g.69371=, rs4760820, 4760820, 56712814, NC_000012.11:g.72396996C>G, NC_000012.11:g.72396996=, NC_000012.12:g.72003216= +PA166153545 rs4762 PA42 AGT NC_000001.11:230710231 6 1 0 0 0 rs52830531, rs60395225, NC_000001.10:g.230845977=, NG_008836.1:g.9360C>T, 4762, NG_008836.2:g.9360C>T, rs16852387, 60395225, NC_000001.11:g.230710231=, NM_000029.3:c.620C>T, NG_008836.2:g.9360=, NC_000001.10:g.230845977G>A, 52830531, NP_000020.1:p.Thr207=, 3182294, rs4762, NG_008836.1:g.9360=, NC_000001.11:g.230710231G>A, NP_000020.1:p.Thr207Met, 16852387, rs3182294 +PA166186237 rs4764980 PA31752 NR1H4 NC_000012.12:100491329 1 0 0 0 0 4764980, NC_000012.11:g.100885107G>T, 17477755, NC_000012.11:g.100885107=, NC_000012.12:g.100491329G>T, NG_029843.1:g.22557G>A, NG_029843.1:g.22557=, NG_029843.1:g.22557G>C, NC_000012.11:g.100885107G>A, NC_000012.11:g.100885107G>C, 56417903, 59806544, NC_000012.12:g.100491329=, NC_000012.12:g.100491329G>C, NC_000012.12:g.100491329G>A, NG_029843.1:g.22557G>T, rs4764980 +PA166159118 rs4767452 PA162401944 RNFT2 NC_000012.12:116779336 1 0 0 0 0 NC_000012.11:g.117217141T>C, NC_000012.11:g.117217141T>A, NC_000012.11:g.117217141T>G, NP_116203.2:p.Ala290=, NC_000012.12:g.116779336T>C, 58840008, NC_000012.12:g.116779336T>A, 4767452, NC_000012.11:g.117217141=, rs4767452, NC_000012.12:g.116779336T>G, NC_000012.12:g.116779336= +PA166154716 rs4769060 PA47 ALOX5AP NC_000013.11:30763740 1 0 0 0 0 17691338, rs17239011, 52817103, NG_011963.2:g.55263=, rs17222884, NC_000013.11:g.30763740A>G, NC_000013.11:g.30763740=, XM_011535025.1:c.204-204A>G, NG_011963.2:g.55263A>G, NM_001629.3:c.324-204A>G, rs4769060, 17222884, rs17691338, NM_001204406.1:c.495-204A>G, 17239011, NC_000013.10:g.31337877A>G, 4769060, rs52817103, NC_000013.10:g.31337877= +PA166203141 rs4771904 PA397 ABCC4 NC_000013.11:95024288 1 0 0 0 0 rs4771904, NC_000013.10:g.95676542T>G, NG_050651.1:g.282159A>G, 10284596, NC_000013.11:g.95024288T>G, 61249100, NC_000013.11:g.95024288=, NG_050651.1:g.282159=, NC_000013.11:g.95024288T>C, NG_050651.1:g.282159A>C, NC_000013.10:g.95676542=, 4771904, NC_000013.10:g.95676542T>C +PA166154717 rs4773866 PA397 ABCC4 NC_000013.11:95277072 1 0 0 0 0 NM_001105515.2:c.74+24169G>A, 111188971, XM_005254026.1:c.74+24169G>A, 4773866, NM_001301830.1:c.74+24169G>A, rs4773866, NC_000013.10:g.95929326=, NG_050651.1:g.29375G>A, NM_005845.4:c.74+24169G>A, 58488639, XM_006719914.1:c.74+24169G>A, NC_000013.10:g.95929326C>T, XM_005254027.1:c.74+24169G>A, rs111188971, rs58488639, NC_000013.11:g.95277072C>T, XR_931652.1:n.41-857C>T, NC_000013.11:g.95277072=, NM_001301829.1:c.74+24169G>A, XR_931651.1:n.41-857C>T, XM_005254028.1:c.74+24169G>A, NG_050651.1:g.29375= +PA166203235 rs4774388 PA34630 RORA NC_000015.10:61174799 1 1 0 0 0 58340870, NC_000015.9:g.61466998C>T, NC_000015.10:g.61174799C>T, NC_000015.10:g.61174799=, NG_029246.1:g.59505G>A, NG_029246.1:g.59505=, rs4774388, 4774388, 17237787, NC_000015.9:g.61466998= +PA166154912 rs4775936 PA27091 CYP19A1 NC_000015.10:51243825 1 1 0 0 0 56554710, NC_000015.9:g.51536022C>T, NM_031226.2:c.-38-875G>A, rs4775936, 4775936, 60272781, XM_005254191.1:c.-38-875G>A, 59395667, XM_005254190.1:c.-812G>A, rs17523248, NG_007982.1:g.99774=, rs56554710, NG_055001.1:g.1058C>T, rs60272781, NC_000015.10:g.51243825=, NM_000103.3:c.-38-875G>A, NC_000015.10:g.51243825C>T, XR_932222.1:n.99-34158C>T, NG_007982.1:g.99774G>A, XM_005254192.1:c.-812G>A, NC_000015.9:g.51536022=, rs59395667, NG_055001.1:g.1058=, 17523248 +PA166154913 rs4779584 NC_000015.10:32702555 1 0 0 0 0 NW_011332701.1:g.4754695C=, NC_000015.10:g.32702555T>C, NT_187660.1:g.4917147C=, 59003760, NC_000015.9:g.32994756T>C, rs4779584, 4779584, NC_000015.10:g.32702555T=, NW_011332701.1:g.4754695C>T, rs59003760, NC_000015.10:g.32702555=, NT_187660.1:g.4917147C>T, NC_000015.9:g.32994756= +PA166203148 rs4781701 PA244 ABCC1 NC_000016.10:15967085 1 0 0 0 0 rs4781701, NG_028268.2:g.22509T>C, NC_000016.9:g.16060942=, NC_000016.9:g.16060942T>C, 4781701, NC_000016.10:g.15967085=, NG_028268.1:g.22509T>C, NG_028268.2:g.22509=, NC_000016.10:g.15967085T>C, NG_028268.1:g.22509= +PA166155065 rs4781712 PA244 ABCC1 NC_000016.10:16009375 1 0 0 0 0 NC_000016.10:g.16009375=, NG_028268.2:g.64799=, XM_005255326.1:c.226-401A>G, NG_028268.1:g.64799A=, rs17264542, NT_187607.1:g.1667251G=, rs4781712, XM_005255327.1:c.226-401A>G, 4781712, XM_011522497.1:c.202-401A>G, XM_011522497.1:c.202-401G>A, 17264542, NC_000016.10:g.16009375A>G, XM_005255328.1:c.226-401A>G, 58943181, NG_028268.1:g.64799A>G, NG_028268.1:g.64799=, NG_028268.2:g.64799A>T, rs58943181, NC_000016.10:g.16009375A=, NT_187607.1:g.1667251G>A, NC_000016.9:g.16103232=, XM_005255329.1:c.226-401A>G, NC_000016.9:g.16103232A>G, NG_028268.1:g.64799A>T, NG_028268.2:g.64799A>G, NC_000016.9:g.16103232A>T, NC_000016.10:g.16009375A>T, XM_011522498.1:c.280-401A>G, NM_004996.3:c.226-401A>G, NM_004996.3:c.226-401G>A, XM_011522498.1:c.280-401G>A +PA166203222 rs4781732 PA58 ABCC6 NC_000016.10:16168715 1 0 0 0 0 4781732, rs4781732, NC_000016.9:g.16262572=, 17217967, NG_007558.2:g.59757=, NC_000016.10:g.16168715G>A, NG_007558.2:g.59757C>T, NC_000016.10:g.16168715=, 61051877, NC_000016.9:g.16262572G>A +PA166155066 rs4783961 PA108 CETP NC_000016.10:56960982 1 1 0 0 0 NG_008952.1:g.4060=, NC_000016.9:g.56994894=, rs58730766, XM_005255776.1:c.-998G>A, XM_006721124.2:c.-998G>A, 17237876, NC_000016.9:g.56994894G>A, 36229161, NM_001286085.1:c.-998G>A, NC_000016.10:g.56960982=, rs17237876, rs4783961, NC_000016.10:g.56960982G>A, NM_000078.2:c.-998G>A, NG_008952.1:g.4060G>A, rs36229161, 4783961, 58730766 +PA166155067 rs4784333 PA152208656 FTO NC_000016.10:53935176 1 0 0 0 0 XM_011523316.1:c.1394+1067C>G, 60006850, NM_001080432.2:c.1364+1067C>G, NC_000016.10:g.53935176C>T, NC_000016.9:g.53969088C>G, NG_012969.1:g.236214C>T, XM_011523314.1:c.1394+1067C>G, NC_000016.10:g.53935176=, XM_011523315.1:c.1394+1067C>G, NG_012969.1:g.236214=, NG_012969.1:g.236214C>G, 4784333, NC_000016.9:g.53969088C>T, rs60006850, NC_000016.9:g.53969088=, NC_000016.10:g.53935176C>G, rs4784333, XM_011523313.1:c.1394+1067C>G +PA166157258 rs478437 NC_000007.14:145096741 2 1 0 0 0 NC_000007.14:g.145096741=, NC_000007.14:g.145096741C>G, NC_000007.14:g.145096741C>T, rs478437, NC_000007.13:g.144793834C>G, NC_000007.13:g.144793834C>T, XR_928090.1:n.1728+242C>T, 478437, NC_000007.13:g.144793834= +PA166155068 rs4785367 NC_000016.10:49922283 1 0 0 0 0 NC_000016.10:g.49922283T>C, NC_000016.9:g.49956194T>C, NC_000016.9:g.49956194=, rs17212873, 4785367, 17212873, rs57920223, rs4785367, 57920223, NC_000016.10:g.49922283= +PA166155069 rs4788184 PA233,PA31332,PA142672260 LRP1,MVP,PAGR1 NC_000016.10:29819105 1 0 0 0 0 NC_000016.9:g.29830426T>A, rs4788184, XM_005255730.1:c.-1482T>C, 4788184, NC_000016.9:g.29830426T>C, NM_024516.3:c.566-450T>C, NM_017458.3:c.-1482T>C, NC_000016.9:g.29830426T>G, NC_000016.10:g.29819105=, NC_000016.10:g.29819105T>A, 57220831, NC_000016.10:g.29819105T>G, rs57220831, NC_000016.10:g.29819105T>C, NC_000016.9:g.29830426=, NM_005115.4:c.-1441T>C +PA166155070 rs4788186 PA233,PA31332 LRP1,MVP NC_000016.10:29829904 1 0 0 0 0 4788186, rs386595434, NC_000016.9:g.29841225A>G, rs4788186, NM_005115.4:c.-35-611A>G, NM_017458.3:c.-76-570A>G, XM_005255730.1:c.-76-570A>G, NC_000016.10:g.29829904A>G, NC_000016.10:g.29829904=, NM_001293204.1:c.-646A>G, 386595434, NM_001293205.1:c.-646A>G, 60884933, rs60884933, NC_000016.9:g.29841225= +PA166163715 rs4788863 PA35817 SLC16A5 NC_000017.11:75093757 2 1 0 0 0 NC_000017.11:g.75093757T>C, NC_000017.10:g.73089852T>A, 56615695, NC_000017.10:g.73089852T>C, NC_000017.10:g.73089852=, 17850537, NC_000017.11:g.75093757T>A, 17859040, NP_004686.1:p.Leu41Met, NC_000017.11:g.75093757=, 4788863, 57222542, NP_004686.1:p.Leu41=, rs4788863 +PA166180035 rs4790693 PA60 ARRB2 NC_000017.11:4711302 1 0 0 0 0 NC_000017.10:g.4614597C>G, NC_000017.10:g.4614597=, NC_000017.11:g.4711302C>G, rs4790693, 4790693, NC_000017.11:g.4711302=, NC_000017.11:g.4711302C>T, NC_000017.10:g.4614597C>T +PA166155223 rs4790694 PA60 ARRB2 NC_000017.11:4723059 3 1 0 0 0 NC_000017.11:g.4723059=, NC_000017.10:g.4626354=, 34188395, NC_000017.10:g.4626354A>C, NC_000017.11:g.4723059A>C, rs58276782, NC_000017.10:g.4626354A>T, NC_000017.11:g.4723059A>T, 58276782, rs4790694, rs34188395, 4790694 +PA166155224 rs4791040 PA33759 PRKCA NC_000017.11:66791455 1 1 0 0 0 XM_011524990.1:c.1854+2476T>C, rs60499689, rs4791040, 4791040, NG_012206.1:g.493648=, NC_000017.11:g.66791455T>C, XM_011524989.1:c.1596+2476T>C, NC_000017.11:g.66791455=, NM_002737.2:c.1854+2476T>C, 60499689, NC_000017.10:g.64787573T>C, XM_005257502.1:c.1854+2476T>C, NC_000017.10:g.64787573=, NG_012206.1:g.493648T>C +PA166160175 rs4792886 PA26874 CRHR1 NC_000017.11:45799466 1 0 0 0 0 rs4792886, NC_000017.10:g.43876832G>A, NG_009902.1:g.20195=, 115236698, 117497715, 4792886, NC_000017.11:g.45799466=, NC_000017.11:g.45799466G>A, 60739668, 146225099, NC_000017.10:g.43876832=, NG_009902.1:g.20195G>A +PA166160177 rs4792887 PA26874 CRHR1 NC_000017.11:45799654 1 0 0 0 0 115779409, 4792887, NC_000017.11:g.45799654=, rs4792887, NC_000017.10:g.43877020=, NG_009902.1:g.20383=, NC_000017.10:g.43877020C>T, NG_009902.1:g.20383C>T, 144795716, 116883561, NC_000017.11:g.45799654C>T +PA166155225 rs4793665 PA376 ABCC3 NC_000017.11:50634726 8 1 0 0 0 4793665, XM_005257763.1:c.-211C>T, NC_000017.10:g.48712087=, NC_000017.10:g.48712087C>A, NC_000017.11:g.50634726=, NM_003786.3:c.-211C>T, NC_000017.11:g.50634726C>T, rs59816619, XM_011525422.1:c.-211C>T, rs4793665, NC_000017.10:g.48712087C>G, NM_001144070.1:c.-211C>T, XM_011525423.1:c.-211C>T, NC_000017.11:g.50634726C>G, XR_934586.1:n.-118C>T, NC_000017.10:g.48712087C>T, 59816619, NC_000017.11:g.50634726C>A, XM_005257763.2:c.-211C>T +PA166155226 rs4794826 PA31748,PA36507 NR1D1,THRA NC_000017.11:40094529 1 0 0 0 0 rs386595502, NG_033084.1:g.11197G>A, 4794826, NC_000017.10:g.38250782=, 59544684, NG_023345.1:g.37337=, rs4794826, NG_033084.1:g.11197=, NM_021724.4:c.1434+406G>A, NC_000017.11:g.40094529C>T, 386595502, rs59544684, NC_000017.10:g.38250782C>T, NC_000017.11:g.40094529=, NG_023345.1:g.37337C>T +PA166176138 rs47958 PA310 SLC6A2 NC_000016.10:55692550 1 0 0 0 0 rs47958, 59073123, NC_000016.9:g.55726462=, NC_000016.10:g.55692550=, NC_000016.10:g.55692550C>A, 60237082, NC_000016.9:g.55726462C>A, NG_016969.1:g.41921C>A, 47958, 3826177, NG_016969.1:g.41921= +PA166155227 rs4795893 PA130413151 CCL2 NC_000017.11:34247429 2 1 0 0 0 NC_000017.11:g.34247429G>A, 59800174, NC_000017.10:g.32574448=, rs59800174, rs4795893, 4795893, NC_000017.10:g.32574448G>A, NC_000017.11:g.34247429= +PA166155228 rs4796793 PA337 STAT3 NC_000017.11:42390192 2 1 0 0 0 NG_007370.1:g.3304C>G, XM_005257616.2:c.-1918C>G, rs17879180, 58246655, NM_213662.1:c.-1937C>G, NM_003150.3:c.-1915C>G, NG_007370.1:g.3304C>T, XM_005257617.2:c.-1915C>G, NC_000017.10:g.40542210G>C, NC_000017.11:g.42390192G>C, XM_005257619.1:c.-1633C>G, NC_000017.10:g.40542210=, NC_000017.10:g.40542210G>A, NC_000017.11:g.42390192G>A, XM_005257620.1:c.-1633C>G, NG_007370.1:g.3304=, XM_005257614.1:c.-1633C>G, XM_005257613.1:c.-1633C>G, XM_005257618.1:c.-1633C>G, 4796793, rs4796793, XM_005257617.1:c.-1633C>G, XM_005257615.1:c.-1633C>G, XM_005257616.1:c.-1633C>G, NM_139276.2:c.-1937C>G, rs58246655, 17879180, NC_000017.11:g.42390192=, XM_011525146.1:c.-1918C>G, XM_011525145.1:c.-1918C>G +PA166155297 rs4799915 PA25428 CELF4 NC_000018.10:37348676 1 1 0 0 0 XM_005258311.1:c.370-26795G>A, rs59639558, rs4799915, XM_011526093.1:c.370-26795G>A, 4799915, XM_011526092.1:c.370-26795G>A, XM_005258302.1:c.370-26795G>A, NC_000018.10:g.37348676C>G, rs17653591, XM_011526084.1:c.370-26795G>A, XR_243851.1:n.542-26795G>A, XM_011526083.1:c.370-26795G>A, XM_005258312.1:c.370-26795G>A, XM_011526091.1:c.370-26795G>A, 111173642, NC_000018.10:g.37348676C>T, XM_005258303.1:c.370-26795G>A, XM_011526090.1:c.370-26795G>A, rs111173642, XM_011526082.1:c.370-26795G>A, XM_005258306.1:c.370-26795G>A, XM_005258304.1:c.370-26795G>A, 56976437, NC_000018.10:g.37348676C>A, XM_005258309.1:c.370-26795G>A, NM_020180.3:c.370-26795G>A, XM_005258314.1:c.370-26795G>A, XM_005258301.1:c.370-26795G>A, XM_011526085.1:c.370-26795G>A, NM_001025088.1:c.370-26795G>A, XM_011526089.1:c.370-26795G>A, XM_011526097.1:c.1-26795G>A, XM_011526080.1:c.370-26795G>A, XM_005258308.1:c.370-26795G>A, NM_001025089.1:c.370-26795G>A, NC_000018.9:g.34928639C>T, NM_001025087.1:c.370-26795G>A, 59639558, NC_000018.10:g.37348676=, NC_000018.9:g.34928639C>G, XM_011526088.1:c.370-26795G>A, XM_011526095.1:c.1-26795G>A, NC_000018.9:g.34928639C>A, XM_005258307.1:c.370-26795G>A, XM_011526087.1:c.370-26795G>A, XM_005258305.1:c.370-26795G>A, XR_935233.1:n.542-26795G>A, XM_011526079.1:c.370-26795G>A, rs56976437, 17653591, XM_005258313.1:c.370-26795G>A, XM_005258300.1:c.370-26795G>A, XM_011526086.1:c.370-26795G>A, NC_000018.9:g.34928639=, XM_005258310.1:c.370-26795G>A, XM_005258308.2:c.370-26795G>A, XM_011526096.1:c.1-26795G>A, XM_011526081.1:c.370-26795G>A +PA166155415 rs4802101 PA123 CYP2B6 NC_000019.10:40990556 3 1 0 0 0 NG_007929.1:g.4258T>C, NG_055439.1:g.1604T>G, 61382311, NG_055439.1:g.1604=, NG_055439.1:g.1604T>A, NG_007929.1:g.4258T>G, NG_055439.1:g.1604T>C, XM_006723050.2:c.-750T>C, XM_005258569.1:c.-750T>C, NG_007929.1:g.4258T>A, rs12721647, NC_000019.9:g.41496461T>G, NG_007929.1:g.4258=, NC_000019.9:g.41496461T>C, NM_000767.4:c.-750T>C, XM_005258569.3:c.-750T>C, NC_000019.9:g.41496461T>A, XM_005258570.1:c.-750T>C, XM_011526547.1:c.-750T>C, XM_011526548.1:c.-750T>C, 4802101, rs4802101, NC_000019.10:g.40990556=, NC_000019.9:g.41496461=, XM_011526546.1:c.-750T>C, 12721647, NC_000019.10:g.40990556T>G, NC_000019.10:g.40990556T>C, NC_000019.10:g.40990556T>A, rs61382311 +PA166155416 rs4803217 PA134952671 IFNL3 NC_000019.10:39243580 5 1 0 0 0 rs4803217, NG_042193.1:g.6392=, XM_011526757.1:c.*52G>T, NC_000019.9:g.39734220C>A, NM_172139.2:c.*52G>T, NC_000019.10:g.39243580=, XM_005258765.3:c.*52G>T, NC_000019.10:g.39243580C>A, XM_005258765.1:c.*52G>T, NC_000019.9:g.39734220=, NG_042193.1:g.6392G>T, 4803217 +PA166155417 rs4803219 PA134952671 IFNL3 NC_000019.10:39245279 2 1 0 0 0 rs4803219, NC_000019.9:g.39735919=, NG_055295.1:g.8578G>A, NC_000019.10:g.39245279C>T, XM_005258765.1:c.-202G>A, rs201690073, NG_055295.1:g.8578=, 201690073, NG_042193.1:g.4693G>A, NC_000019.10:g.39245279=, XM_011526757.1:c.-202G>A, NM_172139.2:c.-312G>A, NG_042193.1:g.4693=, NC_000019.9:g.39735919C>T, 4803219, XM_005258765.3:c.-202G>A +PA166155418 rs4803381 PA121 CYP2A6 NC_000019.10:40851439 3 2 0 0 0 rs7260262, 12985612, 7260262, NM_000762.5:c.-1013A>G, 150298687, NC_000019.9:g.41357344T>C, rs150298687, 4803381, 73553054, NG_008377.1:g.4009=, 60981283, NC_000019.10:g.40851439=, NC_000019.9:g.41357344=, NG_055456.1:g.1114=, rs4803381, rs12985612, XM_005258568.1:c.-1013A>G, rs60981283, NC_000019.10:g.40851439T>C, rs73553054, NG_055456.1:g.1114T>C, NG_008377.1:g.4009A>G +PA166155420 rs4803419 PA123 CYP2B6 NC_000019.10:41006887 17 1 0 0 0 XM_011526546.1:c.485-18C>T, XM_011526549.1:c.-75-50C>T, NC_000019.9:g.41512792=, rs4803419, NC_000019.9:g.41512792C>T, 60830962, NG_007929.1:g.20589C>T, XM_011526550.1:c.364+2441C>T, XM_005258569.1:c.485-18C>T, XM_006723050.2:c.485-18C>T, rs60830962, XM_011526547.1:c.485-18C>T, NC_000019.10:g.41006887=, XM_005258571.1:c.364+2441C>T, NC_000019.10:g.41006887C>T, XM_011526548.1:c.484+2441C>T, NG_007929.1:g.20589=, XM_005258569.3:c.485-18C>T, NM_000767.4:c.485-18C>T, 4803419, XM_005258570.1:c.485-18C>T +PA166176942 rs4805162 PA134970652 ZNF565 NC_000019.10:36183403 1 1 0 0 0 NC_000019.9:g.36674305A>T, NP_689690.3:p.Ile188=, NC_000019.10:g.36183403A>T, NP_689690.3:p.Ile188Ser, 58124195, NC_000019.9:g.36674305A>C, rs4805162, NC_000019.10:g.36183403A>G, NC_000019.9:g.36674305=, 4805162, NP_689690.3:p.Ile188Thr, 117923402, NC_000019.9:g.36674305A>G, NC_000019.10:g.36183403A>C, NP_689690.3:p.Ile188Asn, NC_000019.10:g.36183403= +PA166185410 rs4807493 PA33329 PIP5K1C NC_000019.10:3631038 1 1 0 0 0 NG_012161.2:g.74410=, NG_012161.2:g.74410T>A, NG_012161.2:g.74410T>C, NC_000019.10:g.3631038A>T, NC_000019.10:g.3631038=, NG_012161.1:g.74410T>C, NC_000019.9:g.3631036A>T, NG_012161.1:g.74410T>G, rs4807493, 4807493, NC_000019.10:g.3631038A>G, NG_012161.1:g.74410T>A, NC_000019.10:g.3631038A>C, NC_000019.9:g.3631036A>G, NC_000019.9:g.3631036=, NC_000019.9:g.3631036A>C, 60181537, NG_012161.1:g.74410=, NG_012161.2:g.74410T>G +PA166155945 rs4809957 PA27097 CYP24A1 NC_000020.11:54154632 1 0 0 0 0 61139251, NC_000020.11:g.54154632=, NG_008334.1:g.24346=, NM_000782.4:c.*140T>C, NG_008334.1:g.24346T>C, XM_005260304.1:c.*312T>C, NC_000020.10:g.52771171A>G, XM_005260305.1:c.*140T>C, NM_001128915.1:c.*140T>C, rs61139251, 4809957, NC_000020.11:g.54154632A>G, NC_000020.10:g.52771171=, rs4809957, XM_005260304.3:c.*312T>C +PA166155946 rs4810083 PA33069 PCK1 NC_000020.11:57545215 1 0 0 0 0 NC_000020.10:g.56120271=, 4810083, 61448422, NC_000020.10:g.56120271T>G, NC_000020.11:g.57545215T>C, NC_000020.10:g.56120271T>C, rs4810083, NC_000020.11:g.57545215T>G, NC_000020.11:g.57545215=, rs61448422, XR_936913.1:n.-1050T>C +PA166155947 rs4810485 PA36612 CD40 NC_000020.11:46119308 1 0 0 0 0 60204642, 56530668, NM_152854.3:c.51+914T>G, XM_005260619.1:c.51+914T>G, XR_244158.1:n.130+914T>G, XM_005260620.1:c.51+914T>G, rs17841920, rs60204642, XM_005260617.2:c.51+914T>G, NG_007279.1:g.6042T>A, NC_000020.11:g.46119308=, XR_244157.1:n.130+914T>G, NR_126502.1:n.141+914T>G, NG_007279.1:g.6042T>G, XM_011529109.1:c.51+914T>G, 17841920, XM_005260619.2:c.51+914T>G, NM_001302753.1:c.51+914T>G, XM_005260617.1:c.51+914T>G, NC_000020.11:g.46119308T>A, NM_001250.4:c.51+914T>G, NC_000020.11:g.46119308T>G, NC_000020.10:g.44747947T>A, NC_000020.10:g.44747947T>G, rs4810485, NG_007279.1:g.6042=, XR_936660.1:n.145+914T>G, NC_000020.10:g.44747947=, 4810485, XM_005260618.1:c.51+914T>G, NM_001250.5:c.51+914T>G, rs56530668 +PA166155948 rs4815273 PA38081 ZNF343 NC_000020.11:2520225 1 1 0 0 0 17317258, NC_000020.11:g.2520225C>T, rs61692925, 61100877, NC_000020.10:g.2500871C>T, NC_000020.11:g.2520225=, NM_001282495.1:c.-347+4230G>A, rs17317258, rs61100877, 4815273, NC_000020.10:g.2500871=, 61692925, rs4815273 +PA166322141 rs4817668 PA211 KCNE1 NC_000021.9:34496324 1 0 0 0 0 11561646, NG_009091.1:g.19992=, NC_000021.9:g.34496324=, 59348391, NG_009091.1:g.19992A>T, NC_000021.8:g.35868622T>C, rs4817668, NC_000021.8:g.35868622T>A, 4817668, NC_000021.8:g.35868622=, NC_000021.9:g.34496324T>A, NG_009091.1:g.19992A>G, NC_000021.9:g.34496324T>C +PA166156025 rs4818 PA117 COMT NC_000022.11:19963684 15 3 0 0 0 2070103, rs2070103, 3747069, XP_011528191.1:p.Leu136=, XP_011528193.1:p.Leu136=, rs17355478, rs3747069, NC_000022.11:g.19963684C>T, XP_011528190.1:p.Leu136=, NM_007310.2:c.258C>G, XP_011528187.1:p.Leu174=, XP_011528188.1:p.Leu174=, NG_011526.1:g.26945=, XP_011528192.1:p.Leu136=, rs712978, NC_000022.11:g.19963684=, NC_000022.11:g.19963684C>G, rs4818, XM_011529890.1:c.408C>G, XM_011529888.1:c.408C>G, XM_011529885.1:c.522C>G, 3171583, 17745510, NM_001135162.1:c.408C>G, rs117008153, XP_005261286.1:p.Leu136=, NG_011526.1:g.26945C>G, 4818, NP_009294.1:p.Leu86=, NG_011526.1:g.26945C>T, rs17850822, 17850822, XM_011529891.1:c.408C>G, XM_011529886.1:c.522C>G, XP_011528189.1:p.Leu136=, 57402237, XM_011529889.1:c.408C>G, rs17745510, NC_000022.10:g.19951207C>G, 17355478, NM_001135161.1:c.408C>G, XM_005261229.1:c.408C>G, NC_000022.10:g.19951207C>T, NP_001128633.1:p.Leu136=, 712978, NM_000754.3:c.408C>G, NC_000022.10:g.19951207=, NP_000745.1:p.Leu136=, XM_011529887.1:c.408C>G, NP_001128634.1:p.Leu136=, rs3171583, NR_039918.1:n.-69C>G, rs57402237, 117008153 +PA166156006 rs4818789 PA327 SLC19A1 NC_000021.9:45528913 1 0 0 0 0 XM_011529701.1:c.1151+1857C>A, NG_028278.2:g.39231C>A, 58521338, NC_000021.8:g.46948827=, XM_005261164.1:c.797+1857C>A, XM_011529706.1:c.1013+1857C>A, NG_028278.2:g.39231C>G, rs4818789, XM_011529702.1:c.1151+1857C>A, NC_000021.9:g.45528913G>T, 4818789, XM_011529707.1:c.1442+1857C>A, NM_001205206.1:c.1151+1857C>A, XM_011529700.1:c.1151+1857C>A, XM_011529696.1:c.1442+1857C>A, NM_001205207.1:c.1031+1857C>A, NC_000021.8:g.46948827G>A, NC_000021.8:g.46948827G>C, XM_011529698.1:c.1217+1857C>A, XM_011529699.1:c.1178+1857C>A, XM_005261164.2:c.797+1857C>A, NG_028278.2:g.39231=, NC_000021.9:g.45528913=, XM_011529697.1:c.1442+1857C>A, XM_011529708.1:c.1151+1857C>A, XM_011529710.1:c.797+1857C>A, NC_000021.8:g.46948827G>T, XM_011529704.1:c.1151+1857C>A, XM_011529705.1:c.1442+1857C>A, XM_005261163.1:c.1151+1857C>A, NG_028278.1:g.18559C>A, NM_194255.2:c.1151+1857C>A, NC_000021.9:g.45528913G>C, NG_028278.2:g.39231C>T, rs58521338, NC_000021.9:g.45528913G>A, XM_011529703.1:c.1151+1857C>A, XM_011529709.1:c.797+1857C>A +PA166156007 rs4819128 PA327 SLC19A1 NC_000021.9:45529735 1 0 0 0 0 XM_011529700.1:c.1151+1035G>A, NC_000021.8:g.46949649=, NC_000021.8:g.46949649C>G, XM_011529705.1:c.1442+1035G>A, 36138260, XM_005261164.1:c.797+1035G>A, 111154961, 111213124, XM_011529701.1:c.1151+1035G>A, NC_000021.9:g.45529735C>T, XM_011529698.1:c.1217+1035G>A, XM_011529697.1:c.1442+1035G>A, XM_011529706.1:c.1013+1035G>A, NC_000021.9:g.45529735C>G, rs36138260, NM_001205206.1:c.1151+1035G>A, XM_005261163.1:c.1151+1035G>A, NM_194255.2:c.1151+1035G>A, XM_011529702.1:c.1151+1035G>A, NG_028278.2:g.38409=, XM_011529707.1:c.1442+1035G>A, NC_000021.9:g.45529735=, NM_001205207.1:c.1031+1035G>A, XM_011529699.1:c.1178+1035G>A, rs58322235, rs4819128, 4819128, XM_011529696.1:c.1442+1035G>A, rs111154961, NG_028278.1:g.17737G>A, XM_005261164.2:c.797+1035G>A, XM_011529710.1:c.797+1035G>A, NC_000021.8:g.46949649C>T, XM_011529704.1:c.1151+1035G>A, XM_011529703.1:c.1151+1035G>A, XM_011529709.1:c.797+1035G>A, rs111213124, XM_011529708.1:c.1151+1035G>A, NG_028278.2:g.38409G>C, 58322235, NG_028278.2:g.38409G>A +PA166161868 rs4819554 PA29801 IL17RA NC_000022.11:17084145 1 1 0 0 0 61072822, NC_000022.11:g.17084145=, NG_028257.1:g.4185G>A, rs4819554, 4819554, NC_000022.11:g.17084145G>A, NC_000022.11:g.17084145G>C, NC_000022.10:g.17565035G>A, NC_000022.10:g.17565035=, NC_000022.10:g.17565035G>C, NG_028257.1:g.4185=, NG_028257.1:g.4185G>C +PA166156109 rs4822492 PA165378332 ADORA2A-AS1 NC_000022.11:24447626 1 0 0 0 0 NC_000022.10:g.24843594=, 4822492, NC_000022.11:g.24447626=, rs4822492, NC_000022.11:g.24447626C>G, NC_000022.10:g.24843594C>G, NR_028483.2:n.1121+4585G>C, NR_028484.2:n.685-5486G>C +PA166156110 rs4823613 PA280 PPARA NC_000022.11:46202410 10 2 0 0 0 NG_012204.2:g.56877=, XM_005261657.1:c.208+3819A>G, XM_011530245.1:c.-199+3819A>G, XR_937869.1:n.523+3819A>G, XM_011530241.1:c.208+3819A>G, rs58091507, 58091507, NM_005036.4:c.208+3819A>G, XR_937870.1:n.522+3819A>G, NC_000022.10:g.46598307A>G, XM_011530243.1:c.208+3819A>G, XM_005261655.1:c.208+3819A>G, rs5767571, NM_001001928.2:c.208+3819A>G, NC_000022.10:g.46598307A>C, 5767571, rs74281148, rs4823613, 4823613, XR_244379.1:n.431+3819A>G, NC_000022.11:g.46202410=, 74281148, XM_005261653.1:c.208+3819A>G, XM_005261656.1:c.208+3819A>G, XM_006724270.2:c.208+3819A>G, XM_005261658.1:c.208+3819A>G, XM_011530240.1:c.208+3819A>G, NC_000022.10:g.46598307=, XM_011530244.1:c.-199+3819A>G, XM_011530239.1:c.208+3819A>G, XM_005261656.2:c.208+3819A>G, XM_005261655.2:c.208+3819A>G, NG_012204.1:g.56809A>G, NG_012204.2:g.56877A>C, XM_011530242.1:c.208+3819A>G, XM_006724269.2:c.208+3819A>G, NC_000022.11:g.46202410A>C, NG_012204.1:g.56809A>C, NG_012204.2:g.56877A>G, XM_005261654.1:c.208+3819A>G, NG_012204.1:g.56809=, NC_000022.11:g.46202410A>G +PA166206041 rs482387 PA31942 OPRD1 NC_000001.11:28846112 2 0 0 0 0 NC_000001.10:g.29172624=, NC_000001.11:g.28846112=, NC_000001.11:g.28846112G>C, NC_000001.10:g.29172624G>A, NC_000001.10:g.29172624G>C, 482387, 57151883, rs482387, NC_000001.11:g.28846112G>A +PA166157876 rs4825476 PA28968 GRIA3 NC_000023.11:123307628 1 1 0 0 0 4825476, NC_000023.10:g.122441479=, rs4825476, NC_000023.11:g.123307628=, NG_009377.2:g.128386G>C, rs17330470, NG_009377.2:g.128386G>A, 58985962, XM_005262407.1:c.-23-18398G>A, NM_007325.4:c.509-18398G>A, NG_009377.2:g.128386=, NM_000828.4:c.509-18398G>A, NC_000023.10:g.122441479G>C, NC_000023.11:g.123307628G>A, XM_005262406.1:c.509-18398G>A, rs58985962, NC_000023.10:g.122441479G>A, NC_000023.11:g.123307628G>C, 17330470 +PA166288041 rs4827191 NC_000023.11:40041825 1 0 0 0 0 rs4827191, NC_000023.11:g.40041825=, 56825084, NC_000023.10:g.39901078A>C, NC_000023.10:g.39901078=, NC_000023.11:g.40041825A>C, 4827191 +PA166157877 rs4828696 PA28491 GABRA3 NC_000023.11:152413524 1 0 0 0 0 XM_006724811.1:c.-27+37622A>G, rs60127194, rs4828696, 4828696, XM_011531134.1:c.-27+37622A>G, NC_000023.10:g.151581996=, NC_000023.11:g.152413524T>C, NG_007102.1:g.42835A>G, XM_005274660.1:c.-27+37622A>G, 56568387, 60127194, NM_000808.3:c.-27+37622A>G, rs56568387, XM_011531133.1:c.-27+37622A>G, NC_000023.10:g.151581996T>C, NC_000023.11:g.152413524=, XM_005274659.1:c.-27+37622A>G, NG_007102.2:g.42835=, NG_007102.2:g.42835A>G +PA166156598 rs4834232 PA165664174 LARP1B NC_000004.12:128103118 1 0 0 0 0 XM_005263097.1:c.1417-4021C>T, NM_018078.3:c.814-4021C>T, NC_000004.12:g.128103118C>T, XM_011532057.1:c.814-4021C>T, XM_011532068.1:c.673-4021C>T, XM_005263088.1:c.1417-4021C>T, XM_005263096.1:c.1417-4021C>T, NG_047161.1:g.46853C>T, XR_938761.1:n.891-4021C>T, XM_005263098.1:c.1417-4021C>T, rs59780448, XM_011532077.1:c.91-4021C>T, XM_011532078.1:c.814-4021C>T, NC_000004.11:g.129024273C>T, XM_011532065.1:c.1276-4021C>T, XR_938757.1:n.891-4021C>T, XM_011532072.1:c.814-4021C>T, XR_938754.1:n.891-4021C>T, XM_005263101.1:c.1417-4021C>T, XR_938756.1:n.891-4021C>T, XM_011532075.1:c.91-4021C>T, XR_938759.1:n.891-4021C>T, XR_938753.1:n.891-4021C>T, XM_005263089.1:c.1273-4021C>T, XM_005263090.1:c.1417-4021C>T, XM_011532064.1:c.814-4021C>T, XR_938762.1:n.891-4021C>T, NM_032239.3:c.814-4021C>T, 17394472, XM_005263100.1:c.91-4021C>T, XM_011532067.1:c.814-4021C>T, XM_005263087.1:c.1417-4021C>T, 4834232, XM_005263095.1:c.1417-4021C>T, XM_011532058.1:c.814-4021C>T, XM_011532070.1:c.814-4021C>T, XM_011532066.1:c.814-4021C>T, NC_000004.12:g.128103118=, XM_011532059.1:c.814-4021C>T, XM_011532073.1:c.814-4021C>T, XR_938758.1:n.891-4021C>T, XR_938755.1:n.891-4021C>T, XM_005263092.1:c.1417-4021C>T, XM_011532061.1:c.1276-4021C>T, NC_000004.11:g.129024273=, XM_011532060.1:c.814-4021C>T, XM_011532076.1:c.91-4021C>T, XM_011532063.1:c.814-4021C>T, XM_005263093.1:c.1417-4021C>T, NM_001278604.1:c.814-4021C>T, XM_011532074.1:c.814-4021C>T, XR_938760.1:n.891-4021C>T, XM_005263086.1:c.1417-4021C>T, XM_005263094.1:c.1417-4021C>T, XM_011532071.1:c.814-4021C>T, 59780448, XM_005263099.1:c.91-4021C>T, rs17394472, XM_011532062.1:c.814-4021C>T, rs4834232, NG_047161.1:g.46853=, XM_011532069.1:c.673-4021C>T, NM_178043.2:c.814-4021C>T, XM_005263091.1:c.1417-4021C>T +PA166184605 rs483481 PA31945 OPRM1 NC_000006.12:154142833 1 0 0 0 0 56579976, rs483481, NG_021208.2:g.137333=, NG_021208.2:g.137333G>A, NC_000006.12:g.154142833G>C, NG_021208.2:g.137333G>C, NC_000006.12:g.154142833G>A, NC_000006.12:g.154142833=, NC_000006.11:g.154463968=, NC_000006.11:g.154463968G>C, 483481, NC_000006.11:g.154463968G>A, 59876309 +PA166154062 rs4838391 PA26448 CHAT NC_000010.11:49624063 1 0 0 0 0 NM_001142934.1:c.399-1410C>T, NM_020986.3:c.399-1410C>T, NG_011797.1:g.19969C>T, rs56730446, NC_000010.11:g.49624063=, NM_001142929.1:c.399-1410C>T, NM_001142933.1:c.507-1410C>T, NC_000010.10:g.50832109=, NG_011797.1:g.19969=, 56730446, NM_020549.4:c.753-1410C>T, NC_000010.10:g.50832109C>T, NC_000010.11:g.49624063C>T, NM_020984.3:c.399-1410C>T, rs57982792, 57982792, rs4838391, NM_020985.3:c.399-1410C>T, 4838391 +PA166154063 rs4838392 PA26448 CHAT NC_000010.11:49626932 1 0 0 0 0 60146256, NM_020549.4:c.934-676A>G, NM_001142929.1:c.580-676A>G, NM_020986.3:c.580-676A>G, rs60146256, NM_020984.3:c.580-676A>G, NC_000010.10:g.50834978=, NC_000010.10:g.50834978A>G, NC_000010.11:g.49626932=, NG_011797.1:g.22838A>G, NG_011797.1:g.22838=, NM_001142934.1:c.580-676A>G, NM_001142933.1:c.688-676A>G, rs4838392, NC_000010.11:g.49626932A>G, NM_020985.3:c.580-676A>G, 4838392 +PA166154064 rs4838547 PA26448 CHAT NC_000010.11:49654358 1 0 0 0 0 NG_011797.1:g.50264T>A, NG_011797.1:g.50264T>C, NM_001142934.1:c.1281-737T>C, NM_020986.3:c.1281-737T>C, NM_020549.4:c.1635-737T>C, NC_000010.10:g.50862404=, NM_020985.3:c.1281-737T>C, NC_000010.10:g.50862404T>A, rs4838547, NM_020984.3:c.1281-737T>C, rs58844962, 4838547, NC_000010.11:g.49654358=, NC_000010.10:g.50862404T>C, NC_000010.11:g.49654358T>A, NM_001142933.1:c.1389-737T>C, NC_000010.11:g.49654358T>C, NG_011797.1:g.50264=, NM_001142929.1:c.1281-737T>C, 58844962 +PA166175908 rs4839603 PA134889062 SLC9A9 NC_000003.12:143592418 1 0 0 0 0 NC_000003.12:g.143592418A>G, NG_017077.2:g.261114T>C, 74282991, NC_000003.11:g.143311260=, rs4839603, 4839603, NG_017077.2:g.261114=, NG_017077.1:g.261114T>C, 61218212, NC_000003.12:g.143592418=, NC_000003.11:g.143311260A>G, NG_017077.1:g.261114= +PA166177320 rs4840579 PA28587 GATA4 NC_000008.11:11726916 1 0 0 0 0 NC_000008.10:g.11584425=, NC_000008.10:g.11584425C>G, NG_008177.2:g.54998C>A, NC_000008.10:g.11584425C>T, NC_000008.11:g.11726916C>G, rs4840579, 4840579, NC_000008.11:g.11726916=, NG_008177.2:g.54998C>T, 61316287, NC_000008.11:g.11726916C>A, NC_000008.11:g.11726916C>T, NG_008177.2:g.54998=, NC_000008.10:g.11584425C>A, NG_008177.2:g.54998C>G +PA166157607 rs4841588 PA28587 GATA4 NC_000008.11:11756716 2 1 0 0 0 rs58157506, NM_001308093.1:c.1001-219G>T, NM_002052.4:c.998-219G>T, XM_006716249.2:c.380-219G>T, XM_005272385.1:c.1001-219G>T, XM_005272387.1:c.380-219G>T, NG_008177.2:g.84798G>T, XM_005272384.1:c.1001-219G>T, NC_000008.10:g.11614225G>T, XM_005272385.3:c.1001-219G>T, XM_011543818.1:c.1001-219G>T, NM_001308094.1:c.380-219G>T, XM_006716248.1:c.1001-219G>T, 4841588, rs4841588, NC_000008.11:g.11756716=, 58157506, NC_000008.11:g.11756716G>T, XM_011543817.1:c.1001-219G>T, XM_005272386.1:c.1001-219G>T, NG_008177.2:g.84798=, NC_000008.10:g.11614225= +PA166159133 rs4842198 NC_000009.12:134441602 1 0 0 0 0 NC_000009.12:g.134441602A>T, rs4842198, NC_000009.12:g.134441602=, 4842198, NC_000009.11:g.137333448A>T, 59204461, NC_000009.11:g.137333448=, 34032393, NC_000009.12:g.134441602A>G, NC_000009.12:g.134441602A>C, NC_000009.11:g.137333448A>C, NC_000009.11:g.137333448A>G, 111225224 +PA166153776 rs4844880 PA29476 HSD11B1 NC_000001.11:209697571 1 1 0 0 0 rs4844880, NG_012081.1:g.16367A>T, 4844880, NM_001206741.1:c.-48-7324A>T, NR_134510.1:n.67-34510T>A, NR_134509.1:n.96+26459T>A, NC_000001.11:g.209697571A>T, XR_922547.1:n.3091-34510T>A, XR_922549.1:n.125-34510T>A, XR_922542.1:n.3235-21038T>A, NM_181755.2:c.-26-7346A>T, NC_000001.10:g.209870916A>T, NG_012081.1:g.16367=, NC_000001.10:g.209870916=, 58529811, rs58529811, NC_000001.11:g.209697571A>C, NC_000001.11:g.209697571=, NC_000001.10:g.209870916A>C, NG_012081.1:g.16367A>C, XR_922543.1:n.3225+26459T>A +PA166279201 rs4845625 PA29835 IL6R NC_000001.11:154449591 3 0 0 0 0 NC_000001.10:g.154422067T>A, NC_000001.10:g.154422067T>C, NC_000001.11:g.154449591T>C, NC_000001.11:g.154449591T>A, 60337021, NC_000001.11:g.154449591=, rs4845625, NG_012087.1:g.49399=, NG_012087.1:g.49399T>C, NG_012087.1:g.49399T>A, 4845625, NC_000001.10:g.154422067= +PA166183960 rs4845652 NC_000001.11:154565729 1 0 0 0 0 rs4845652, NG_008027.1:g.2949C>T, 4845652, NC_000001.11:g.154565729=, NG_008027.1:g.2949C>A, NC_000001.11:g.154565729C>A, NG_008027.1:g.2949=, NC_000001.10:g.154538205C>T, NC_000001.11:g.154565729C>T, NC_000001.10:g.154538205=, 61125474, NC_000001.10:g.154538205C>A +PA166153777 rs4846051 PA245 MTHFR NC_000001.11:11794400 1 1 0 0 0 NM_005957.4:c.1305C>T, NC_000001.11:g.11794400G>C, XP_005263520.1:p.Phe353=, NC_000001.10:g.11854457G>T, NC_000001.11:g.11794400G>A, XM_005263462.3:c.1305C>T, XM_011541496.1:c.1428C>T, XP_005263519.1:p.Phe435=, XP_011539797.1:p.Phe475=, XM_005263459.1:c.1374C>T, XP_005263518.1:p.Phe435=, XM_005263460.3:c.1305C>T, 57431061, XM_005263461.3:c.1305C>T, rs4846051, 4846051, NC_000001.10:g.11854457G>A, XM_005263461.1:c.1305C>T, XM_005263462.1:c.1305C>T, XM_005263458.1:c.1428C>T, rs17854810, NC_000001.10:g.11854457G>C, NC_000001.11:g.11794400G>T, XP_005263517.1:p.Phe435=, rs57431061, XM_005263463.2:c.1059C>T, XM_005263460.1:c.1305C>T, NP_005948.3:p.Phe435Leu, XM_011541495.1:c.1425C>T, NG_013351.1:g.16704C>G, 17854810, NC_000001.11:g.11794400=, NG_013351.1:g.16704C>T, NG_013351.1:g.16704=, NP_005948.3:p.Phe435=, NC_000001.10:g.11854457=, XP_011539798.1:p.Phe476=, XM_005263463.1:c.1059C>T, XM_005263458.2:c.1428C>T, XP_005263515.1:p.Phe476=, XP_005263516.1:p.Phe458=, NG_013351.1:g.16704C>A +PA166155735 rs4848306 PA29808 IL1B NC_000002.12:112840530 1 1 0 0 0 rs61213149, NC_000002.11:g.113598107=, NG_008851.1:g.1250C>T, 61213149, NC_000002.12:g.112840530=, NC_000002.11:g.113598107G>A, NC_000002.12:g.112840530G>C, NC_000002.12:g.112840530G>A, rs4848306, 4848306, NC_000002.11:g.113598107G>C, NG_008851.1:g.1250=, NG_008851.1:g.1250C>G +PA166155736 rs4849127 PA29808 IL1B NC_000002.12:112844982 1 1 0 0 0 rs60697613, 60697613, NC_000002.11:g.113602559=, rs4849127, 4849127, NC_000002.12:g.112844982=, NC_000002.11:g.113602559A>T, NC_000002.11:g.113602559A>G, NC_000002.12:g.112844982A>G, NC_000002.12:g.112844982A>T +PA166177110 rs4858478 NC_000003.12:23132842 1 1 0 0 0 17415009, NC_000003.12:g.23132842G>A, NC_000003.12:g.23132842G>C, NC_000003.11:g.23174333=, rs4858478, NC_000003.11:g.23174333G>C, 4858478, NC_000003.11:g.23174333G>A, NC_000003.12:g.23132842= +PA166283282 rs4864950 PA30086 KDR NC_000004.12:55080735 3 2 0 0 0 NC_000004.11:g.55946902T>A, rs4864950, 59103076, NC_000004.11:g.55946902=, 4864950, NG_012004.1:g.49861A>T, NC_000004.12:g.55080735T>A, NG_012004.1:g.49861=, NC_000004.12:g.55080735= +PA166156835 rs4867329 PA142671060 DROSHA NC_000005.10:31435520 1 0 0 0 0 NG_051574.1:g.101656T>G, XM_005248291.1:c.3042+245T>G, XM_005248292.2:c.3018+245T>G, NM_013235.4:c.3042+245T>G, NM_001100412.1:c.2931+245T>G, NG_051574.1:g.101656T>A, rs17485775, XM_005248293.1:c.2949+245T>G, NC_000005.9:g.31435627A>C, NC_000005.10:g.31435520A>C, 17485775, XM_005248294.1:c.2838+245T>G, rs4867329, XM_005248293.2:c.2949+245T>G, 4867329, NG_051574.1:g.101656=, XM_005248291.2:c.3042+245T>G, XM_011514033.1:c.3042+245T>G, XM_005248292.1:c.3018+245T>G, NC_000005.10:g.31435520=, NC_000005.9:g.31435627A>T, XM_005248294.2:c.2838+245T>G, NC_000005.10:g.31435520A>T, NC_000005.9:g.31435627= +PA166156836 rs4867798 PA147 DRD1 NC_000005.10:175440896 2 0 0 0 0 NG_011802.1:g.8265A>G, 59650206, NG_011802.1:g.8265=, NM_000794.3:c.*863A>G, NC_000005.10:g.175440896=, NC_000005.9:g.174867899T>C, NC_000005.9:g.174867899T>A, NG_011802.1:g.8265A>T, NC_000005.10:g.175440896T>C, NC_000005.9:g.174867899T>G, rs4867798, rs59650206, 4867798, NC_000005.10:g.175440896T>G, NC_000005.10:g.175440896T>A, NG_011802.1:g.8265A>C, NC_000005.9:g.174867899= +PA166157106 rs4870061 PA156 ESR1 NC_000006.12:151916333 2 1 0 0 0 rs60066095, NM_000125.3:c.761-27840T>C, NC_000006.12:g.151916333T>A, NM_001291230.1:c.767-27840T>C, XM_005266856.1:c.767-27840T>C, XM_011535545.1:c.761-27840T>C, NM_001122741.1:c.761-27840T>C, NC_000006.12:g.151916333T>G, XM_006715374.2:c.761-27840T>C, NC_000006.12:g.151916333T>C, XM_005266857.1:c.758-27840T>C, NC_000006.11:g.152237468=, XM_006715375.2:c.242-27840T>C, XM_011535544.1:c.761-27840T>C, NG_008493.1:g.230838T>C, 56619442, 57237593, NG_008493.2:g.264643=, rs4870061, NM_001122742.1:c.761-27840T>C, rs57237593, 4870061, XM_011535548.1:c.242-27840T>C, NC_000006.11:g.152237468T>G, XM_011535543.1:c.761-27840T>C, rs56619442, XM_011535547.1:c.761-27840T>C, NG_008493.2:g.264643T>G, NG_008493.2:g.264643T>C, NG_008493.2:g.264643T>A, NC_000006.12:g.151916333=, 60066095, XM_011535546.1:c.761-27840T>C, NC_000006.11:g.152237468T>C, NM_001291241.1:c.758-27840T>C, NC_000006.11:g.152237468T>A, NM_001122740.1:c.761-27840T>C +PA166180169 rs4870266 PA31945 OPRM1 NC_000006.12:154047863 2 0 0 0 0 NG_021208.2:g.42363=, NG_021208.2:g.42363G>A, NC_000006.11:g.154368998G>A, 4870266, NC_000006.12:g.154047863=, rs4870266, NC_000006.11:g.154368998=, NC_000006.12:g.154047863G>A +PA166185761 rs4871827 PA134897957 DEPTOR NC_000008.11:120049640 3 0 0 0 0 NP_073620.2:p.Ser389Asn, NC_000008.10:g.121061879=, NP_073620.2:p.Ser389=, NP_073620.2:p.Ser389Ile, NC_000008.10:g.121061879G>A, 17850843, rs4871827, 4871827, NC_000008.11:g.120049640G>T, 59755806, 52808957, NC_000008.11:g.120049640G>A, NC_000008.10:g.121061879G>T, NC_000008.11:g.120049640= +PA166157706 rs487750 PA38725 KCNT1 NC_000009.12:135711894 1 0 0 0 0 XM_011518877.1:c.246-2683C>T, rs60902129, NC_000009.12:g.135711894=, NG_033070.1:g.14710C>G, NC_000009.12:g.135711894C>G, NC_000009.12:g.135711894C>T, XM_011518878.1:c.246-2683C>T, NC_000009.11:g.138603740=, NM_020822.2:c.111-2683C>T, XR_930434.1:n.970G>A, NM_001272003.1:c.110+9526C>T, 487750, NC_000009.11:g.138603740C>T, NG_033070.1:g.14710=, NG_033070.1:g.14710C>T, XM_011518879.1:c.246-2683C>T, NC_000009.11:g.138603740C>G, rs487750, XM_005263407.1:c.111-2683C>T, 60902129 +PA166157777 rs4877831 PA426 SLC28A3 NC_000009.12:84284969 1 0 0 0 0 NC_000009.11:g.86899884=, NC_000009.12:g.84284969C>G, NM_022127.2:c.1647+376G>C, XM_011518907.1:c.1398+376G>C, 60234702, rs4877831, 4877831, NC_000009.12:g.84284969C>A, XM_011518906.1:c.1731+376G>C, XM_011518908.1:c.1008+376G>C, XR_930033.1:n.88-4073C>G, NR_037638.2:n.1969+376G>C, XR_929832.1:n.1838+376G>C, XM_011518905.1:c.1731+376G>C, NC_000009.11:g.86899884C>A, NM_001199633.1:c.1647+376G>C, NC_000009.12:g.84284969=, rs60234702, NC_000009.11:g.86899884C>G +PA166157778 rs4877847 PA426 SLC28A3 NC_000009.12:84331502 2 1 0 0 0 rs4877847, NM_001199633.1:c.60+9072T>G, XM_011518910.1:c.60+9072T>G, 4877847, XM_011518906.1:c.60+9072T>G, NC_000009.11:g.86946417A>C, XM_011518905.1:c.60+9072T>G, XM_011518907.1:c.-97-18048T>G, NC_000009.11:g.86946417=, NC_000009.12:g.84331502=, NM_022127.2:c.60+9072T>G, NR_037638.2:n.206+9072T>G, XR_929832.1:n.187+9072T>G, NC_000009.12:g.84331502A>C, XM_011518909.1:c.60+9072T>G +PA166157779 rs4877900 PA31818 NTRK2 NC_000009.12:85017403 1 1 0 0 0 rs4877900, XM_005252001.1:c.2173-2803C>T, XM_011518718.1:c.2125-2803C>T, 4877900, NC_000009.12:g.85017403C>G, XM_005252005.1:c.2125-2803C>T, XM_005252003.1:c.2173-2803C>T, NG_012201.2:g.353853=, XM_011518719.1:c.2125-2803C>T, NC_000009.12:g.85017403=, NC_000009.11:g.87632318C>T, rs61447704, NG_012201.2:g.353853C>G, NM_001018064.2:c.2125-2803C>T, XM_005252002.1:c.2173-2803C>T, NG_012201.2:g.353853C>T, XM_005252004.1:c.2173-2803C>T, 61447704, NC_000009.11:g.87632318=, NC_000009.12:g.85017403C>T, NM_006180.4:c.2173-2803C>T, NC_000009.11:g.87632318C>G +PA166170267 rs4878199 PA24695 ALDH1B1 NC_000009.12:38396505 1 0 0 0 0 NC_000009.12:g.38396505G>A, NC_000009.11:g.38396502G>A, NG_012253.1:g.8801=, NC_000009.11:g.38396502G>C, NP_000683.3:p.Val253Leu, NP_000683.3:p.Val253Met, 59256075, NC_000009.12:g.38396505=, NC_000009.12:g.38396505G>C, 56569883, NP_000683.3:p.Val253=, NC_000009.11:g.38396502=, 4878199, 17844916, 17524067, 17857640, NG_012253.1:g.8801G>C, rs4878199, NG_012253.1:g.8801G>A +PA166154274 rs487989 PA411 POLA2 NC_000011.10:65297219 2 0 0 0 0 NC_000011.9:g.65064690G>A, rs1211593, NC_000011.10:g.65297219G>A, 1211593, NC_000011.9:g.65064690=, 3881265, rs3881265, 487989, XM_011544877.1:c.1647+1229G>A, 57424239, NP_002680.2:p.Gly583Arg, NC_000011.10:g.65297219=, XM_011544881.1:c.*15-453G>A, NC_000011.9:g.65064690G>T, NP_002680.2:p.Gly583Trp, rs487989, NC_000011.10:g.65297219G>T, rs57424239, NP_002680.2:p.Gly583=, XM_011544879.1:c.*114G>A, NM_002689.3:c.1747G>A, XM_011544880.1:c.*14+1229G>A, XM_011544878.1:c.1647+1229G>A +PA166156900 rs4880 PA36017 SOD2 NC_000006.12:159692840 16 5 0 0 0 rs386596107, 1141717, NP_001019637.1:p.Val16Ala, 17856520, NC_000006.11:g.160113872A>G, rs116851270, 11551083, rs4880, 17362379, NC_000006.11:g.160113872=, rs11551083, 17405198, rs3205539, rs1799725, 116851270, 3205539, 1799725, NP_001019636.1:p.Val16Ala, NM_000636.2:c.47T>C, NM_001024466.1:c.47T>C, 4880, NC_000006.12:g.159692840A>G, rs17405198, NP_000627.2:p.Val16Ala, NG_008729.3:g.74690T>C, NP_001019636.1:p.Val16=, NG_008729.3:g.74690=, NG_008729.1:g.5482T>C, NC_000006.12:g.159692840=, 386596107, rs17362379, rs17856520, NM_001024465.1:c.47T>C, rs1141717 +PA166154914 rs4886410 PA26946 CSK NC_000015.10:74773303 1 0 0 0 0 4886410, NC_000015.9:g.75065644G>C, rs4886410, NC_000015.10:g.74773303=, NC_000015.9:g.75065644=, NC_000015.10:g.74773303G>C +PA166181361 rs4887074 NC_000015.10:78659768 1 0 0 0 0 NC_000015.10:g.78659768=, NC_000015.9:g.78952110G>C, 60240899, 4887074, NC_000015.10:g.78659768G>C, rs4887074, NC_000015.9:g.78952110= +PA166155071 rs4888024 PA30534 MAF NC_000016.10:79405477 1 1 0 0 0 NC_000016.10:g.79405477=, 17655371, NC_000016.10:g.79405477A>T, rs59573204, NC_000016.9:g.79439374A>T, 4888024, rs4888024, XM_011523084.1:c.*28+180403T>C, rs17655371, NC_000016.9:g.79439374=, 59573204, NC_000016.10:g.79405477A>G, NC_000016.9:g.79439374A>G +PA166155072 rs4889606 PA38345 STX1B NC_000016.10:30999862 2 1 0 0 0 NC_000016.9:g.31011183=, NG_041829.1:g.15647T>C, 57849313, 17641007, NC_000016.10:g.30999862A>G, 4889606, rs4889606, rs57849313, NC_000016.10:g.30999862=, rs17641007, NC_000016.9:g.31011183A>G, NG_041829.1:g.15647=, NM_052874.4:c.280+1066T>C +PA166164896 rs4896870 NC_000006.12:146506145 2 0 0 0 0 4896870, NC_000006.11:g.146827281=, 58666059, NC_000006.12:g.146506145G>A, NC_000006.12:g.146506145=, NC_000006.11:g.146827281G>A, rs4896870 +PA166155269 rs489693 PA30676 MC4R NC_000018.10:60215554 5 7 0 0 0 489693, NC_000018.10:g.60215554C>T, rs489693, NC_000018.10:g.60215554C>A, NC_000018.9:g.57882787=, 1673474, rs1673474, NC_000018.9:g.57882787C>T, NC_000018.9:g.57882787C>A, NC_000018.10:g.60215554= +PA166181815 rs4897302 PA36941 TRDN NC_000006.12:123565086 1 0 0 0 0 NC_000006.12:g.123565086=, NC_000006.12:g.123565086C>T, 17280267, rs4897302, 4897302, NC_000006.11:g.123886231C>T, NC_000006.11:g.123886231=, NG_030438.1:g.77008=, NG_030438.1:g.77008G>A +PA166157878 rs4898437 NC_000023.11:153750499 1 0 0 0 0 60354161, rs60354161, NC_000023.11:g.153750499C>G, NC_000023.10:g.153015953=, NW_003871103.3:g.1184481C>T, NC_000023.10:g.153015953C>T, rs4898437, 4898437, NC_000023.11:g.153750499=, NC_000023.10:g.153015953C>G, NC_000023.11:g.153750499C>T +PA166157879 rs4898439 PA33431 PLXNB3 NC_000023.11:153762178 1 0 0 0 0 rs59311896, NC_000023.10:g.153027633A>T, NC_000023.10:g.153027633=, rs4898439, 4898439, 537664866, NC_000023.11:g.153762178A>T, NG_013255.1:g.2983A>C, NC_000023.10:g.153027633A>C, XR_430558.2:n.458-85T>G, NC_000023.11:g.153762178=, 59311896, rs537664866, NG_013255.1:g.2983=, NC_000023.11:g.153762178A>C, NG_013255.1:g.2983A>T, NW_003871103.3:g.1196161A>C +PA166176947 rs4902333 NC_000014.9:64909368 1 1 0 0 0 NC_000014.9:g.64909368C>T, NC_000014.8:g.65376086C>T, NC_000014.8:g.65376086=, 4902333, NC_000014.9:g.64909368=, rs4902333 +PA166156735 rs490332 NC_000005.10:176738085 1 0 0 0 0 rs490332, NC_000005.10:g.176738085A>G, 490332, NC_000005.10:g.176738085A>T, NC_000005.9:g.176165086A>T, NC_000005.10:g.176738085A>C, NC_000005.9:g.176165086A>G, 58795966, NC_000005.9:g.176165086=, NC_000005.9:g.176165086A>C, rs58795966, NC_000005.10:g.176738085= +PA166235724 rs4906902 PA28497 GABRB3 NC_000015.10:26774621 1 1 0 0 0 NC_000015.9:g.27019768A>G, 4906902, rs4906902, NC_000015.9:g.27019768=, NG_012836.1:g.4160=, NC_000015.10:g.26774621=, NC_000015.10:g.26774621A>G, NG_012836.1:g.4160T>C +PA166160516 rs4909237 PA164722891,PA34022 MIR595,PTPRN2 NC_000007.14:158532811 1 0 0 0 0 rs4909237, NC_000007.14:g.158532811=, NC_000007.13:g.158325503C>A, NC_000007.14:g.158532811C>T, NC_000007.13:g.158325503C>T, NG_029966.1:g.59980=, NC_000007.13:g.158325503=, NG_029966.1:g.59980G>T, NC_000007.14:g.158532811C>A, NG_029966.1:g.59980G>A, 4909237 +PA166159490 rs4910008 PA134950929 GALNT18 NC_000011.10:11458319 2 1 0 0 0 rs4910008, 60079394, 4910008, NC_000011.10:g.11458319C>A, NC_000011.10:g.11458319C>T, NC_000011.10:g.11458319=, NC_000011.9:g.11479866=, NC_000011.9:g.11479866C>T, NC_000011.9:g.11479866C>A +PA166160453 rs4910232 NC_000011.10:11098822 1 0 0 0 0 NC_000011.9:g.11120369=, NC_000011.9:g.11120369A>G, 17429568, NC_000011.10:g.11098822=, NC_000011.10:g.11098822A>G, 4910232, rs4910232, 59010757 +PA166179865 rs4912522 PA134900226 HTR3E NC_000003.12:184102178 1 0 0 0 0 NC_000003.12:g.184102178=, NC_000003.11:g.183819966=, rs4912522, NG_012452.1:g.7000=, 4912522, NC_000003.12:g.184102178G>C, NC_000003.11:g.183819966G>C, NG_012452.1:g.7000G>C +PA166154066 rs4917639 PA126 CYP2C9 NC_000010.11:94965778 3 1 0 0 0 NC_000010.10:g.96725535A>T, NG_008385.1:g.32121A>T, rs4917639, 4917639, 17429632, NG_008385.1:g.32121=, NG_008385.2:g.32621=, NM_000771.3:c.820-6326A>C, rs56870279, NC_000010.10:g.96725535A>C, XM_005269575.1:c.820-6326A>C, NG_008385.1:g.32121A>C, NG_008385.2:g.32621A>C, NC_000010.11:g.94965778=, NC_000010.10:g.96725535=, NC_000010.11:g.94965778A>C, rs17429632, NC_000010.11:g.94965778A>T, 56870279, NG_008385.2:g.32621A>T +PA166154067 rs4918758 PA126 CYP2C9 NC_000010.11:94937495 5 1 0 0 0 NC_000010.11:g.94937495=, NG_055435.1:g.3026=, NC_000010.10:g.96697252T>G, XM_005269575.1:c.-1188T>C, NC_000010.10:g.96697252T>C, NG_008385.1:g.3838T>G, NC_000010.11:g.94937495T>G, NC_000010.10:g.96697252T>A, NC_000010.11:g.94937495T>C, NC_000010.11:g.94937495T>A, NG_008385.1:g.3838T>A, NG_008385.1:g.3838T>C, NG_008385.1:g.3838=, NG_055435.1:g.3026T>C, NM_000771.3:c.-1188T>C, NG_055435.1:g.3026T>A, rs17110346, NG_008385.2:g.4338T>G, NG_008385.2:g.4338T>A, NG_008385.2:g.4338T>C, NG_055435.1:g.3026T>G, NC_000010.10:g.96697252=, rs4918758, NG_008385.2:g.4338=, 4918758, 17110346 +PA166156008 rs4920037 PA26123 CBS NC_000021.9:43061781 1 0 0 0 0 58737231, XM_011529777.1:c.1039+530C>T, NM_001178009.1:c.1039+530C>T, rs58737231, rs56483140, XM_011529774.1:c.1090+530C>T, XM_011529783.1:c.724+530C>T, NG_008938.1:g.19150C>T, XM_011529775.1:c.1090+530C>T, XM_011529779.1:c.1039+530C>T, NC_000021.9:g.43061781=, NM_000071.2:c.1039+530C>T, NG_008938.1:g.19150=, XM_011529784.1:c.724+530C>T, XM_011529778.1:c.1039+530C>T, NM_001178008.1:c.1039+530C>T, XM_011529782.1:c.1039+530C>T, 56483140, NC_000021.8:g.44481891G>A, 4920037, rs4920037, XM_011529776.1:c.1090+530C>T, NC_000021.9:g.43061781G>A, NC_000021.8:g.44481891=, XM_011529773.1:c.1090+530C>T, XM_011529781.1:c.1039+530C>T +PA166155982 rs492338 PA24408 ABCG1 NC_000021.9:42281867 2 0 0 0 0 XM_011529807.1:c.622-407A>G, rs492338, rs3788004, NC_000021.9:g.42281867=, NM_207628.1:c.523-407A>G, XM_005261209.1:c.622-407A>G, XM_011529806.1:c.622-407A>G, NC_000021.8:g.43701977=, NM_004915.3:c.589-407A>G, 1788364, rs1788364, NM_016818.2:c.589-407A>G, NM_207627.1:c.595-407A>G, NM_207629.1:c.580-407A>G, 3788004, NC_000021.8:g.43701977A>G, NC_000021.9:g.42281867A>G, NM_207174.1:c.622-407A>G, 492338 +PA166160877 rs4925193 PA26300 CDH4 NC_000020.11:61681034 1 0 0 0 0 rs4925193, 4925193, 60085017, 17809910, 60779233, NC_000020.10:g.60256090=, NC_000020.11:g.61681034T>C, NC_000020.11:g.61681034=, NC_000020.10:g.60256090T>C +PA166155949 rs4925300 PA26300 CDH4 NC_000020.11:61816982 1 0 0 0 0 NC_000020.11:g.61816982=, NM_001252339.2:c.355-27686G>A, NC_000020.11:g.61816982G>A, rs4925300, NC_000020.10:g.60392038=, NM_001794.4:c.577-27686G>A, 4925300, NC_000020.10:g.60392038G>A, NC_000020.11:g.61816982G>T, NM_001252338.2:c.466-27686G>A, NC_000020.10:g.60392038G>T +PA166210018 rs492602 PA28429 FUT2 NC_000019.10:48703160 1 1 0 0 0 rs492602, 17849548, NG_007511.1:g.12190A>G, NP_000502.4:p.Ala68=, NC_000019.10:g.48703160=, 59109937, NC_000019.9:g.49206417=, NC_000019.9:g.49206417A>G, 492602, 16982247, NC_000019.10:g.48703160A>G, NG_007511.1:g.12190= +PA166154915 rs4932551 NC_000015.10:91528728 1 0 0 0 0 NC_000015.10:g.91528728G>C, 17772730, rs4932551, 4932551, NC_000015.9:g.92071958G>A, NC_000015.10:g.91528728=, rs58182249, 58182249, NC_000015.9:g.92071958G>C, 56529178, rs57899076, rs17772730, rs56529178, NC_000015.9:g.92071958=, 57899076, NC_000015.10:g.91528728G>A +PA166154068 rs4933824 PA31778 NRG3 NC_000010.11:82059369 1 1 0 0 0 XR_246059.1:n.823+183206T>G, XM_005269444.1:c.823+183206T>G, XM_011539172.1:c.823+183206T>G, XM_011539175.1:c.823+183206T>G, NC_000010.10:g.83819125T>G, NG_013373.1:g.189056=, NM_001010848.3:c.823+183206T>G, 60229764, XM_005269444.3:c.823+183206T>G, XM_005269446.1:c.136-107358T>G, NC_000010.11:g.82059369T>G, XM_005269445.1:c.136-107358T>G, rs4933824, 4933824, NC_000010.11:g.82059369=, rs60229764, NC_000010.10:g.83819125=, XM_011539173.1:c.823+183206T>G, NM_001165972.1:c.823+183206T>G, NG_013373.1:g.189056T>G, XM_005269449.1:c.31+181349T>G, XM_011539174.1:c.823+183206T>G, NM_001165973.1:c.61-107358T>G, XM_005269448.1:c.61-107358T>G, XM_005269447.1:c.136-107358T>G, XM_005269450.1:c.31+181349T>G +PA166185213 rs4936274 PA27478 DRD2 NC_000011.10:113459729 3 0 0 0 0 NG_008841.1:g.20551=, NG_008841.1:g.20551T>A, rs4936274, NC_000011.10:g.113459729=, 4936274, NC_000011.10:g.113459729A>G, NC_000011.9:g.113330451A>G, NC_000011.9:g.113330451=, 61195762, NC_000011.10:g.113459729A>T, NC_000011.9:g.113330451A>T, NG_008841.1:g.20551T>C +PA166177412 rs4936367 PA32906 PAFAH1B2 NC_000011.10:117171661 1 0 0 0 0 NC_000011.9:g.117042377G>C, NC_000011.9:g.117042377=, NC_000011.9:g.117042377G>A, 58422633, NC_000011.10:g.117171661G>T, NC_000011.10:g.117171661=, NC_000011.9:g.117042377G>T, NP_001171675.1:p.Val151Leu, NP_001171675.1:p.Val151Met, rs4936367, NC_000011.10:g.117171661G>A, 4936367, NP_001171675.1:p.Val151=, NC_000011.10:g.117171661G>C +PA166154410 rs4936453 PA25453 BTG4 NC_000011.10:111430057 1 0 0 0 0 XR_947837.1:n.981-25335A>C, XR_947850.1:n.897-25335A>C, XR_947853.1:n.866-25335A>C, XR_947833.1:n.897-25335A>C, XR_947855.1:n.1151-25335A>C, XR_947838.1:n.756-25335A>C, XM_011542877.1:c.663-25335A>C, rs59257410, XM_011542876.1:c.663-25335A>C, XR_947832.1:n.897-25335A>C, XR_947847.1:n.1108+10540A>C, XR_947845.1:n.897-25335A>C, XR_947848.1:n.897-25335A>C, XR_947835.1:n.897-25335A>C, NC_000011.9:g.111300782=, rs4936453, XR_947841.1:n.849-25335A>C, 4936453, 58543391, 59257410, rs17577898, XR_947842.1:n.713-25335A>C, XR_947844.1:n.897-25335A>C, XR_110541.1:n.165+1200T>G, NC_000011.9:g.111300782T>G, XR_947836.1:n.897-25335A>C, XR_947849.1:n.897-25335A>C, rs58543391, 17577898, NC_000011.9:g.111300782T>A, XR_947852.1:n.897-25335A>C, XR_947843.1:n.897-25335A>C, NC_000011.10:g.111430057T>A, XR_947840.1:n.807-25335A>C, XR_947851.1:n.897-25335A>C, XR_947834.1:n.897-25335A>C, NC_000011.10:g.111430057T>G, XR_947846.1:n.897-25335A>C, XR_947839.1:n.994-25335A>C, XM_011542878.1:c.663-25335A>C, NC_000011.10:g.111430057= +PA166154411 rs4938013 PA134872551 ANKK1 NC_000011.10:113393748 1 0 0 0 0 rs61344497, NM_178510.1:c.453A>C, NC_000011.10:g.113393748=, XP_011541040.1:p.Ile77=, XM_011542738.1:c.231A>C, NC_000011.9:g.113264470A>T, NG_012976.1:g.10958A>G, NG_012976.1:g.10958A>C, rs4938013, XP_011541038.1:p.Ile151=, 4938013, NC_000011.9:g.113264470A>G, NC_000011.9:g.113264470A>C, NG_012976.1:g.10958=, NC_000011.9:g.113264470=, NG_012976.1:g.10958A>T, XP_011541039.1:p.Ile151=, NC_000011.10:g.113393748A>T, XM_011542736.1:c.453A>C, NP_848605.1:p.Ile151Met, NP_848605.1:p.Ile151=, 61344497, NC_000011.10:g.113393748A>G, XM_011542737.1:c.453A>C, NC_000011.10:g.113393748A>C +PA166155298 rs4939827 PA134875286 SMAD7 NC_000018.10:48927093 2 0 0 0 0 rs4939827, 4939827, NG_023330.1:g.28619A>T, NM_005904.3:c.743-5183A>G, rs58599490, NG_023330.1:g.28619=, NC_000018.10:g.48927093T>A, NC_000018.9:g.46453463T>A, NC_000018.9:g.46453463T>C, NC_000018.10:g.48927093T>C, NG_023330.1:g.28619A>G, NC_000018.9:g.46453463=, 386596584, NM_001190823.1:c.179-5183A>G, 58599490, rs386596584, NM_001190821.1:c.740-5183A>G, NM_001190822.1:c.98-5183A>G, NC_000018.10:g.48927093= +PA166156278 rs49411 PA28140 FHIT NC_000003.12:59771849 1 1 0 0 0 780357, NG_007551.2:g.1484611A>G, NC_000003.11:g.59757575T>A, NG_007551.2:g.1484611=, NC_000003.11:g.59757575T>C, NC_000003.12:g.59771849=, XM_011533485.1:c.349-19528A>G, XM_005264953.1:c.349-19528A>G, NC_000003.11:g.59757575T>G, 56511526, NG_007551.2:g.1484611A>T, NC_000003.11:g.59757575=, 386596596, XM_011533486.1:c.280-19528A>G, 59044527, XM_011533481.1:c.349-19528A>G, 716372, XM_011533484.1:c.349-19528A>G, XM_005264954.1:c.349-19528A>G, 49411, XM_005264951.1:c.370-19528A>G, NG_007551.2:g.1484611A>C, rs59044527, NM_002012.2:c.349-19528A>G, rs17361030, NM_001166243.1:c.349-19528A>G, 17361030, XM_005264955.1:c.349-19528A>G, rs386596596, XM_011533483.1:c.349-19528A>G, NC_000003.12:g.59771849T>G, rs716372, NC_000003.12:g.59771849T>C, NC_000003.12:g.59771849T>A, NG_007551.1:g.1484559A>G, rs49411, XM_005264952.1:c.349-19528A>G, XM_011533482.1:c.349-19528A>G, rs56511526, rs780357 +PA166155299 rs4941129 PA36601 TNFRSF11A NC_000018.10:62333244 1 0 0 0 0 NC_000018.9:g.60000477T>C, NM_001270951.1:c.75+7817T>C, rs386596598, NC_000018.9:g.60000477=, rs4941129, 4941129, NM_001270949.1:c.75+7817T>C, NC_000018.10:g.62333244=, XR_935263.1:n.90+7817T>C, rs60306098, NG_008098.1:g.12930T>C, 386596598, NM_001278268.1:c.75+7817T>C, NM_003839.2:c.75+7817T>C, NC_000018.10:g.62333244T>C, XM_005266777.1:c.75+7817T>C, NM_001270950.1:c.75+7817T>C, NG_008098.1:g.12930=, XM_011526245.1:c.-117-3070T>C, NM_003839.3:c.75+7817T>C, XM_011526244.1:c.75+7817T>C, 60306098 +PA166155300 rs4941131 PA36601 TNFRSF11A NC_000018.10:62372928 1 0 0 0 0 NM_003839.3:c.1567+3444T>C, NG_008098.1:g.52614T>G, NC_000018.10:g.62372928T>C, NC_000018.10:g.62372928T>G, NM_001270950.1:c.730+11135T>C, NM_001270951.1:c.617-11823T>C, NG_008098.1:g.52614=, XR_935263.1:n.1597+3444T>C, 59933656, rs4941131, XM_011526245.1:c.1459+3444T>C, 4941131, NC_000018.9:g.60040161=, NC_000018.10:g.62372928=, NC_000018.9:g.60040161T>C, XM_005266777.1:c.1567+3444T>C, NM_001278268.1:c.1525+3444T>C, NC_000018.9:g.60040161T>G, NM_001270949.1:c.783+6168T>C, XM_011526244.1:c.1582+3444T>C, NG_008098.1:g.52614T>C, NM_003839.2:c.1567+3444T>C, rs59933656 +PA166154069 rs4948496 PA134943193 ARID5B NC_000010.11:62045858 3 2 0 0 0 NM_032199.2:c.734-5030T>C, XM_011540262.1:c.503-5030T>C, NC_000010.10:g.63805617=, rs17288843, rs58586872, NC_000010.11:g.62045858T>C, NC_000010.10:g.63805617T>C, NG_030027.1:g.149605T>C, NG_030027.1:g.149605=, 4948496, rs4948496, 17288843, 58586872, XM_005270215.1:c.479-5030T>C, NC_000010.11:g.62045858= +PA166155596 rs494852 PA37404 XDH NC_000002.12:31401970 1 0 0 0 0 rs59544081, NC_000002.11:g.31624836=, NC_000002.11:g.31624836C>T, rs386596654, NC_000002.12:g.31401970C>T, NG_008871.1:g.17776=, NC_000002.12:g.31401970=, XM_011533095.1:c.198-642G>A, XM_011533096.1:c.198-642G>A, rs494852, rs1429373, 1429373, 494852, NG_008871.2:g.17776=, NM_000379.3:c.198-642G>A, 386596654, NG_008871.1:g.17776G>A, NG_008871.2:g.17776G>A, 59544081 +PA166210003 rs494904 NC_000002.12:44914041 1 1 0 0 0 56580358, NC_000002.12:g.44914041T>C, NC_000002.11:g.45141180T>G, rs494904, NC_000002.12:g.44914041T>G, NC_000002.11:g.45141180=, 494904, NC_000002.12:g.44914041=, 59618919, NC_000002.11:g.45141180T>C +PA166157542 rs4950 PA26495 CHRNB3 NC_000008.11:42697490 2 0 0 0 0 NC_000008.11:g.42697490G>A, NC_000008.10:g.42552633G>A, NC_000008.11:g.42697490G>C, 61628039, NC_000008.10:g.42552633G>C, NC_000008.11:g.42697490=, XR_949717.1:n.1617C>T, NC_000008.10:g.42552633=, NC_000008.11:g.42697490G>T, rs4950, rs61628039, NC_000008.10:g.42552633G>T, NM_000749.3:c.-57G>A, 4950, XR_949716.1:n.919C>T +PA166155737 rs4953344 PA27809 EPAS1 NC_000002.12:46325319 1 0 0 0 0 NG_016000.1:g.32918=, rs4953344, 17746007, 56802594, NG_016000.1:g.32918T>C, XR_940055.1:n.2355+10465A>G, rs56802594, NC_000002.11:g.46552458=, rs17746007, NC_000002.12:g.46325319T>C, XM_011532698.1:c.-493T>C, 4953344, NC_000002.11:g.46552458T>C, NM_001430.4:c.27-21554T>C, NC_000002.12:g.46325319= +PA166177792 rs495491 PA31945 OPRM1 NC_000006.12:154061407 8 5 0 0 0 NG_021208.2:g.55907A>G, NC_000006.12:g.154061407=, NC_000006.11:g.154382542=, 495491, rs495491, NC_000006.12:g.154061407A>G, 9479753, NC_000006.11:g.154382542A>G, NG_021208.2:g.55907= +PA166156736 rs495794 PA36124 SRP19 NC_000005.10:112865397 1 1 0 0 0 NC_000005.9:g.112201094A>G, rs11566789, rs74294430, NC_000005.9:g.112201094A>C, rs495794, NC_000005.9:g.112201094=, NM_001204199.1:c.301+665A>G, NC_000005.10:g.112865397A>G, 11566789, 3797706, rs3797706, NC_000005.10:g.112865397A>C, NM_003135.2:c.301+665A>G, 74294430, NM_001204193.1:c.301+665A>G, NC_000005.10:g.112865397=, 495794, NM_001204194.1:c.229+665A>G, NM_001204196.1:c.225+665A>G +PA166157707 rs495828 PA24415 ABO NC_000009.12:133279294 5 2 0 0 0 NW_003315925.1:g.105388T=, rs495828, NW_009646201.1:g.105388T>G, rs60651416, NG_006669.2:g.921=, NC_000009.12:g.133279294T>G, NG_006669.2:g.921A>C, NC_000009.11:g.136154867G=, 60651416, NW_003315925.1:g.105388T>G, NC_000009.11:g.136154867G>T, 495828, NC_000009.12:g.133279294= +PA166309721 rs4958351 PA28966 GRIA1 NC_000005.10:153790814 1 0 0 0 0 59093085, NC_000005.10:g.153790814G>T, NG_047078.1:g.306119G>T, 4958351, rs4958351, NG_047078.1:g.306119=, NC_000005.9:g.153170374=, NC_000005.9:g.153170374G>T, NC_000005.10:g.153790814G>A, 117291753, NC_000005.10:g.153790814=, NG_047078.1:g.306119G>A, NC_000005.9:g.153170374G>A +PA166156837 rs4958381 PA28966 GRIA1 NC_000005.10:154651307 1 1 0 0 0 NC_000005.9:g.154030867=, NC_000005.10:g.154651307T>C, NC_000005.9:g.154030867T>C, 4958381, rs4958381, NC_000005.10:g.154651307= +PA166169486 rs4958487 PA36055 SPARC NC_000005.10:151684113 1 0 0 0 0 NC_000005.10:g.151684113A>G, NC_000005.9:g.151063674=, 60966298, 4958487, NG_042174.1:g.7942T>C, rs4958487, NC_000005.9:g.151063674A>G, NC_000005.10:g.151684113=, 17718365, NG_042174.1:g.7942= +PA166156480 rs4961 PA31 ADD1 NC_000004.12:2904980 20 4 0 0 0 NC_000004.11:g.2906707G>T, XP_005247992.1:p.Gly460Trp, NC_000004.12:g.2904980=, NG_012037.1:g.66124G>T, XM_005247937.1:c.1378G>T, XM_005247936.1:c.1378G>T, XM_005247938.1:c.1378G>T, XP_005247995.1:p.Gly460Trp, NM_014189.3:c.1378G>T, NP_054909.2:p.Gly460Trp, rs113752720, NP_001273574.1:p.Gly460Trp, 4961, NP_001110.2:p.Gly460=, 113752720, NG_012037.1:g.66124G>A, NG_012037.1:g.66124=, NP_001110.2:p.Gly460Trp, XP_005247990.1:p.Gly460Trp, NM_176801.2:c.1378G>T, XP_005247991.1:p.Gly460Trp, 52823896, rs52823896, NP_054908.2:p.Gly460Trp, XP_005247993.1:p.Gly460Trp, NC_000004.12:g.2904980G>T, NM_001119.4:c.1378G>T, XP_005247994.1:p.Gly460Trp, XM_005247933.1:c.1378G>T, XM_005247934.1:c.1378G>T, NP_789771.1:p.Gly460Trp, rs4961, XM_005247935.1:c.1378G>T, NM_001286645.1:c.1378G>T, 61347248, NC_000004.11:g.2906707G>A, NM_014190.3:c.1378G>T, NC_000004.11:g.2906707=, NP_001110.2:p.Gly460Arg, rs61347248, NC_000004.12:g.2904980G>A +PA166157608 rs4961252 NC_000008.11:141094845 1 0 0 0 0 NC_000008.11:g.141094845=, NC_000008.10:g.142104944=, rs4961252, rs58686754, 4961252, 17546440, NC_000008.10:g.142104944A>G, rs17546440, 58686754, NC_000008.11:g.141094845A>G, NC_000008.11:g.141094845A>T, NC_000008.10:g.142104944A>T +PA166254501 rs4961280 PA27694 AGO2 NC_000008.11:140637315 1 0 0 0 0 rs4961280, 4961280, NC_000008.10:g.141647414C>A, NC_000008.10:g.141647414C>T, NC_000008.11:g.140637315C>A, NC_000008.10:g.141647414=, NC_000008.11:g.140637315=, NC_000008.11:g.140637315C>T +PA166154412 rs4963126 PA27234 DEAF1 NC_000011.10:656845 1 0 0 0 0 XM_011519843.1:c.1504-2794C>T, XM_011519843.1:c.1504-2794T>C, XR_428838.2:n.1510-2794C>T, XR_428838.2:n.1510-2794T>C, NM_001293634.1:c.1237-2189T>C, XR_930843.1:n.1871+2590T>C, NM_001293634.1:c.1237-2189C>T, XM_005252748.1:c.1504-2794C>T, NC_000011.10:g.656845G>A, XR_930843.1:n.1871+2590C>T, NG_034156.1:g.43910C>T, NG_034156.1:g.43910C=, NC_000011.10:g.656845G>C, NG_034156.2:g.55239=, NG_034156.1:g.43910C>G, NC_000011.9:g.656845G>A, NC_000011.9:g.656845G>C, NC_000011.9:g.656845=, rs386596781, NC_000011.10:g.656845G=, XM_005252749.1:c.1237-2189C>T, NG_034156.2:g.55239C>G, NG_034156.1:g.43910=, 4963126, rs4963126, 386596781, 57773296, NC_000011.10:g.656845=, XM_011519842.1:c.1504-2794C>T, XM_011519842.1:c.1504-2794T>C, NM_021008.3:c.1504-2794C>T, NM_021008.3:c.1504-2794T>C, NT_187586.1:g.188598A>G, NT_187586.1:g.188598A=, rs57773296, NG_034156.2:g.55239C>T +PA166157708 rs496503 PA38725 KCNT1 NC_000009.12:135705128 1 0 0 0 0 NM_020822.2:c.110+2760G>A, XM_011518879.1:c.245+168G>A, rs496503, XM_011518877.1:c.245+168G>A, NC_000009.12:g.135705128G>A, NG_033070.1:g.7944=, NC_000009.12:g.135705128=, NM_001272003.1:c.110+2760G>A, NC_000009.11:g.138596974G>A, NG_033070.1:g.7944G>A, XR_930436.1:n.-767C>T, XM_011518878.1:c.245+168G>A, 61452484, 1632340, XR_930435.1:n.-767C>T, rs1632340, NC_000009.11:g.138596974=, XM_005263407.1:c.110+2760G>A, rs61452484, 496503 +PA166178409 rs4968187 PA36679 TP53 NC_000017.11:7669124 1 1 0 0 0 NC_000017.10:g.7572442C>T, 4968187, NC_000017.11:g.7669124C>T, rs4968187, 17880722, NC_000017.11:g.7669124=, NG_017013.2:g.23427G>A, NC_000017.10:g.7572442=, NG_017013.2:g.23427= +PA166155229 rs4969170 PA134885765 SOCS3 NC_000017.11:78364457 2 0 0 0 0 NG_016851.1:g.621=, NG_016851.1:g.621T>G, NR_110845.1:n.462-40A>G, rs59927390, NC_000017.11:g.78364457A>C, NC_000017.11:g.78364457=, NR_110847.1:n.405+1706A>G, 59927390, NC_000017.10:g.76360538=, NC_000017.10:g.76360538A>G, NR_110846.1:n.139-40A>G, NC_000017.11:g.78364457A>G, XR_243764.1:n.396-40A>G, 4969170, rs4969170, XR_243763.1:n.396-40A>G, NG_016851.1:g.621T>C, NC_000017.10:g.76360538A>C +PA166153780 rs4970722 PA145 DPYD NC_000001.11:97886497 1 0 0 0 0 NC_000001.11:g.97886497A>T, 60365769, XM_005270564.1:c.40-3123T>A, 61301156, NM_001160301.1:c.40-3123T>A, NC_000001.11:g.97886497A>G, NC_000001.11:g.97886497A>C, NG_008807.2:g.39563T>A, NG_008807.2:g.39563T>C, XM_005270561.1:c.39+34387T>A, NC_000001.11:g.97886497=, NC_000001.10:g.98352053=, rs61301156, 56417891, NM_000110.3:c.40-3123T>A, NC_000001.10:g.98352053A>G, NC_000001.10:g.98352053A>C, NG_008807.2:g.39563T>G, XM_005270562.1:c.40-3123T>A, rs56417891, NG_008807.2:g.39563=, XM_005270563.1:c.40-3123T>A, rs60365769, NC_000001.10:g.98352053A>T, XM_006710397.2:c.40-3123T>A, XM_005270562.3:c.40-3123T>A, 4970722, rs4970722 +PA166177103 rs4971678 PA31786 NRXN1 NC_000002.12:50438029 1 1 0 0 0 NC_000002.12:g.50438029=, rs4971678, NC_000002.11:g.50665167T>A, NC_000002.11:g.50665167=, NC_000002.11:g.50665167T>C, NC_000002.12:g.50438029T>C, NC_000002.12:g.50438029T>A, NG_011878.1:g.599508=, NG_011878.1:g.599508A>G, NG_011878.1:g.599508A>T, 4971678 +PA166156403 rs4974081 PA142671106 QRICH1 NC_000003.12:49033066 1 0 0 0 0 NG_012091.1:g.1377G>T, XM_005265248.1:c.1895+54G>A, rs59124009, 17389376, NC_000003.12:g.49033066=, XM_005265249.1:c.1895+54G>A, XM_011533862.1:c.1895+54G>A, NG_012091.1:g.1377G>C, XM_005265248.3:c.1895+54G>A, NC_000003.11:g.49070499C>T, NG_012091.1:g.1377G>A, 59124009, 4974081, NC_000003.11:g.49070499C>A, 57516261, NM_017730.2:c.1895+54G>A, NC_000003.11:g.49070499C>G, NG_012091.1:g.1377=, NC_000003.12:g.49033066C>T, NC_000003.11:g.49070499=, rs4974081, XM_006713212.2:c.1895+54G>A, rs57516261, NC_000003.12:g.49033066C>G, XM_011533863.1:c.1895+54G>A, rs17389376, NM_198880.1:c.1895+54G>A, NC_000003.12:g.49033066C>A +PA166179452 rs4978536 PA162388608,PA118 FKBP15,SLC31A1 NC_000009.12:113220123 2 1 0 0 0 NC_000009.11:g.115982403=, NC_000009.11:g.115982403A>G, rs4978536, 4978536, NC_000009.12:g.113220123=, NC_000009.12:g.113220123A>G +PA166179445 rs4979223 PA162388608,PA118 FKBP15,SLC31A1 NC_000009.12:113219836 2 1 0 0 0 NC_000009.12:g.113219836=, rs4979223, NC_000009.11:g.115982116=, 4979223, NC_000009.12:g.113219836A>C, NC_000009.11:g.115982116A>C +PA166179971 rs497976 PA31945 OPRM1 NC_000006.12:154121377 1 0 0 0 0 NC_000006.11:g.154442512=, NC_000006.12:g.154121377G>A, NC_000006.12:g.154121377=, NC_000006.11:g.154442512G>T, NG_021208.2:g.115877G>T, NC_000006.12:g.154121377G>T, NC_000006.11:g.154442512G>A, NG_021208.2:g.115877G>A, rs497976, 497976, NG_021208.2:g.115877= +PA166160154 rs4980524 PA36196 STIP1 NC_000011.10:64191787 1 0 0 0 0 57874752, NC_000011.9:g.63959259=, NC_000011.10:g.64191787=, NC_000011.10:g.64191787A>T, NC_000011.9:g.63959259A>C, NC_000011.9:g.63959259A>T, NC_000011.10:g.64191787A>C, 17462923, rs4980524, 4980524 +PA166170514 rs498207 PA194 HTR2C NC_000023.11:114583649 1 0 0 0 0 57387292, 17260537, NC_000023.11:g.114583649=, NC_000023.10:g.113818116A>G, 386596956, NG_012082.2:g.4565=, 56587777, NC_000023.11:g.114583649G>A, rs498207, 3764754, NG_012082.2:g.4565G>A, 498207 +PA166154803 rs4982133 NC_000014.9:34057613 2 1 0 0 0 NC_000014.8:g.34526819A>T, rs4982133, XR_943736.1:n.253-1519A>C, 4982133, NC_000014.8:g.34526819=, NC_000014.9:g.34057613A>T, NC_000014.8:g.34526819A>C, NC_000014.9:g.34057613A>G, XR_429348.2:n.460+34708T>G, rs59135361, 59135361, NC_000014.9:g.34057613A>C, NC_000014.9:g.34057613=, NC_000014.8:g.34526819A>G +PA166154804 rs4982753 PA134879149 SLC22A17 NC_000014.9:23345360 1 0 0 0 0 rs4982753, NC_000014.8:g.23814569C>A, 4982753, NC_000014.9:g.23345360C>A, NC_000014.9:g.23345360C>T, 61203156, NC_000014.9:g.23345360=, rs61203156, NC_000014.8:g.23814569=, NC_000014.8:g.23814569C>T +PA166154916 rs4984241 PA25987 CA12 NC_000015.10:63331264 1 1 0 0 0 NM_206925.2:c.875-4031T>C, NM_001293642.1:c.695-4031T>C, 57855406, NM_001218.4:c.875-3134T>C, NG_028022.2:g.55903T>C, XR_932358.1:n.768-10550A>G, NC_000015.9:g.63623463=, NG_028022.2:g.55903=, NC_000015.9:g.63623463A>G, NG_028022.1:g.55613T>C, rs4984241, 4984241, NC_000015.10:g.63331264A>G, XM_005254655.1:c.695-4031T>C, rs57855406, NC_000015.10:g.63331264= +PA166157709 rs498618 PA38725 KCNT1 NC_000009.12:135724120 1 0 0 0 0 NG_033070.1:g.26936A>G, XM_011518879.1:c.389+9400A>G, NC_000009.11:g.138615966A>T, rs498618, NC_000009.12:g.135724120A>G, NG_033070.1:g.26936=, NC_000009.12:g.135724120=, NM_001272003.1:c.110+21752A>G, NG_033070.1:g.26936A>T, XM_011518878.1:c.389+9400A>G, rs57626918, XM_011518877.1:c.389+9400A>G, NC_000009.12:g.135724120A>T, NM_020822.2:c.254+9400A>G, 498618, NC_000009.11:g.138615966A>G, 57626918, XM_005263407.1:c.254+9400A>G, NC_000009.11:g.138615966= +PA166157610 rs4986783 PA17 NAT1 NC_000008.11:18222687 5 0 0 0 0 NP_001153642.1:p.Ser214Ala, XP_005273735.1:p.Ser214Ala, XP_005273734.1:p.Ser276Ala, 52821060, rs17693139, XM_011544687.1:c.826T>G, NM_001160170.3:c.640T>G, NM_001160173.3:c.640T>G, NP_001153643.1:p.Ser214Ala, NP_001153651.1:p.Ser214Ala, NP_001278891.1:p.Ser276Ala, NC_000008.11:g.18222687=, NP_000653.3:p.Ser214Ala, XP_005273736.1:p.Ser214Ala, rs59405415, XM_005273679.1:c.640T>G, NP_001153647.1:p.Ser276Ala, NC_000008.11:g.18222687T>G, XM_006716410.2:c.640T>G, NM_000662.7:c.640T>G, NM_001160174.2:c.640T>G, NP_001153648.1:p.Ser276Ala, NP_000653.3:p.Ser214=, NC_000008.10:g.18080196T>G, XM_005273678.1:c.640T>G, rs4986783, NP_001153644.1:p.Ser214Ala, XP_006716473.1:p.Ser214Ala, XM_011544689.1:c.640T>G, XM_011544688.1:c.826T>G, NM_001160171.3:c.640T>G, NM_001160176.3:c.826T>G, XM_005273677.1:c.826T>G, XP_011542990.1:p.Ser276Ala, NM_001160179.2:c.640T>G, 17693139, NP_001153645.1:p.Ser214Ala, XP_011542991.1:p.Ser214Ala, rs52821060, NC_000008.10:g.18080196=, XP_011542989.1:p.Ser276Ala, NM_001291962.1:c.826T>G, NM_001160172.3:c.640T>G, NM_001160175.3:c.826T>G, NP_001153646.1:p.Ser214Ala, NG_012245.2:g.57226T>G, 4986783, 59405415, NG_012245.2:g.57226= +PA166157780 rs4986790 PA36552 TLR4 NC_000009.12:117713024 5 3 0 0 0 NC_000009.11:g.120475302A>T, NM_003266.3:c.776A>G, NM_138554.3:c.896A>G, NP_612567.1:p.Asp99Gly, 59093760, rs52820966, NM_138554.4:c.896A>G, NP_003257.1:p.Asp259Gly, NP_612564.1:p.Asp299Val, 52820966, NP_612564.1:p.Asp299=, rs4986790, 4986790, NC_000009.12:g.117713024A>T, NC_000009.11:g.120475302=, XM_005252182.1:c.890A>G, NG_011475.1:g.13843A>T, XP_005252239.1:p.Asp297Gly, NG_011475.1:g.13843=, NP_612564.1:p.Asp299Gly, NC_000009.12:g.117713024A>G, NG_011475.1:g.13843A>G, NC_000009.11:g.120475302A>G, NM_138557.2:c.296A>G, rs59093760, NC_000009.12:g.117713024= +PA166157781 rs4986791 PA36552 TLR4 NC_000009.12:117713324 2 0 0 0 0 NM_138554.3:c.1196C>T, rs52826331, NP_612564.1:p.Thr399Ile, NC_000009.12:g.117713324C>T, NM_138554.4:c.1196C>T, NC_000009.12:g.117713324=, NG_011475.1:g.14143=, NM_003266.3:c.1076C>T, XM_005252182.1:c.1190C>T, NP_003257.1:p.Thr359Ile, NM_138557.2:c.596C>T, NC_000009.11:g.120475602C>T, NP_612567.1:p.Thr199Ile, 52826331, NG_011475.1:g.14143C>T, NP_612564.1:p.Thr399=, 4986791, XP_005252239.1:p.Thr397Ile, rs4986791, NC_000009.11:g.120475602= +PA166155421 rs4986891 PA121 CYP2A6 NC_000019.10:40848724 7 3 3 0 0 XM_005258568.1:c.230G>T, NP_000753.3:p.Arg128Leu, rs58116892, NC_000019.10:g.40848724=, NM_000762.5:c.383G>A, NP_000753.3:p.Arg128=, NC_000019.9:g.41354629C>A, NP_000753.3:p.Arg128Pro, XP_005258625.1:p.Arg77Gln, XP_005258625.1:p.Arg77Leu, rs4986891, 4986891, NP_000753.3:p.Arg128Gln, NC_000019.10:g.40848724C>A, NC_000019.9:g.41354629C>T, NG_008377.1:g.6724G>C, NG_008377.1:g.6724G>A, NC_000019.10:g.40848724C>G, NG_008377.1:g.6724=, NC_000019.9:g.41354629C>G, NM_000762.5:c.383G>T, NG_008377.1:g.6724G>T, XM_005258568.1:c.230G>A, NC_000019.9:g.41354629=, 58116892, NC_000019.10:g.40848724C>T +PA166154070 rs4986893 PA124 CYP2C19 NC_000010.11:94780653 463 36 34 0 0 57081121, NP_000760.1:p.Trp212=, CYP2C19*3, rs52827375, NC_000010.10:g.96540410G>A, NC_000010.10:g.96540410=, NC_000010.11:g.94780653=, NG_008384.3:g.22973G>A, NC_000010.11:g.94780653G>A, 52827375, NG_008384.2:g.22948G>A, NG_008384.3:g.22973=, rs57081121, rs4986893, 4986893, NM_000769.2:c.636G>A, NP_000760.1:p.Trp212Ter +PA166157402 rs4986907 PA130 CYP3A4 NC_000007.14:99769804 15 1 1 0 0 NG_008421.1:g.19382G>A, rs58254554, NP_059488.2:p.Arg162=, rs4986907, 4986907, NC_000007.13:g.99367427C>T, XM_011515841.1:c.485G>A, NM_001202855.2:c.485G>A, NP_059488.2:p.Arg162Gln, NP_001189784.1:p.Arg162Gln, XP_011514143.1:p.Arg162Gln, 58254554, NG_008421.1:g.19382=, NC_000007.14:g.99769804C>T, XP_011514144.1:p.Arg162Gln, NM_017460.5:c.485G>A, NC_000007.13:g.99367427=, XM_011515842.1:c.485G>A, NC_000007.14:g.99769804= +PA166157403 rs4986908 PA130 CYP3A4 NC_000007.14:99769769 14 1 1 0 0 XM_011515841.1:c.520G>A, NP_001189784.1:p.Asp174Asn, XP_011514143.1:p.Asp174Asn, NG_008421.1:g.19417G>A, NG_008421.1:g.19417G>C, 386597003, NP_059488.2:p.Asp174His, rs386597003, NC_000007.14:g.99769769C>T, 4986908, NC_000007.13:g.99367392=, NP_059488.2:p.Asp174Asn, XP_011514144.1:p.Asp174Asn, rs4986908, NM_001202855.2:c.520G>A, NG_008421.1:g.19417=, NP_059488.2:p.Asp174=, XM_011515842.1:c.520G>A, NC_000007.13:g.99367392C>T, 58133974, rs58133974, NC_000007.13:g.99367392C>G, NC_000007.14:g.99769769=, NC_000007.14:g.99769769C>G, NM_017460.5:c.520G>A +PA166157404 rs4986909 PA130 CYP3A4 NC_000007.14:99762047 10 1 1 0 0 NP_001189784.1:p.Pro415Leu, NC_000007.14:g.99762047=, NC_000007.13:g.99359670G>C, XP_011514143.1:p.Pro416Leu, rs386597004, NC_000007.13:g.99359670G>A, rs4986909, 4986909, NM_001202855.2:c.1244C>T, XP_011514144.1:p.Pro415Leu, NP_059488.2:p.Pro416=, NG_008421.1:g.27139C>T, 386597004, NC_000007.13:g.99359670=, NP_059488.2:p.Pro416Arg, NG_008421.1:g.27139=, XM_011515841.1:c.1247C>T, NP_059488.2:p.Pro416Leu, XM_011515842.1:c.1244C>T, NC_000007.14:g.99762047G>A, NG_008421.1:g.27139C>G, NM_017460.5:c.1247C>T, NC_000007.14:g.99762047G>C +PA166157405 rs4986910 PA130 CYP3A4 NC_000007.14:99760901 28 7 6 0 0 NM_001202855.2:c.1331T>C, NP_059488.2:p.Met445Thr, XP_011514143.1:p.Met476Thr, rs4986910, 4986910, XM_011515842.1:c.1424T>C, rs386597005, rs60835115, NG_008421.1:g.28285T>C, NM_017460.5:c.1334T>C, NC_000007.14:g.99760901A>G, NC_000007.13:g.99358524A>G, 386597005, NP_059488.2:p.Met445=, 60835115, NC_000007.14:g.99760901=, XP_011514144.1:p.Met475Thr, NG_008421.1:g.28285=, NP_001189784.1:p.Met444Thr, XM_011515841.1:c.1427T>C, NC_000007.13:g.99358524= +PA166157406 rs4986913 PA130 CYP3A4 NC_000007.14:99760836 14 1 1 0 0 rs4986913, NC_000007.14:g.99760836G>C, rs386597007, NC_000007.13:g.99358459G>C, NP_059488.2:p.Pro467Ser, NC_000007.13:g.99358459G>A, NP_059488.2:p.Pro467=, XP_011514143.1:p.Pro498Ser, NM_001202855.2:c.1396C>T, NP_001189784.1:p.Pro466Ser, 4986913, XP_011514144.1:p.Pro497Ser, XM_011515842.1:c.1489C>T, NG_008421.1:g.28350C>G, XM_011515841.1:c.1492C>T, NC_000007.14:g.99760836=, 386597007, NG_008421.1:g.28350=, NG_008421.1:g.28350C>T, NC_000007.13:g.99358459=, NC_000007.14:g.99760836G>A, NP_059488.2:p.Pro467Ala, NM_017460.5:c.1399C>T +PA166157407 rs4986914 PA130 CYP3A4 NC_000007.14:99784610 1 0 0 0 0 XM_011515841.1:c.-529T>C, XM_011515842.1:c.-529T>C, NG_008421.1:g.4576=, NC_000007.13:g.99382233A>G, NG_008421.1:g.4576T>C, NM_001202855.2:c.-529T>C, rs4986914, 4986914, NC_000007.14:g.99784610A>G, NG_054901.1:g.579A>G, NM_017460.5:c.-529T>C, NC_000007.13:g.99382233=, NC_000007.14:g.99784610=, NG_054901.1:g.579= +PA166178600 rs4986936 PA156 ESR1 NC_000006.12:151842149 1 0 0 0 0 NG_008493.2:g.190459=, NC_000006.11:g.152163284A>G, NG_008493.2:g.190459A>G, NC_000006.12:g.151842149=, NC_000006.11:g.152163284=, 9340798, NC_000006.12:g.151842149A>G, rs4986936, 4986936 +PA166154805 rs4986938 PA27886 ESR2 NC_000014.9:64233098 3 1 0 0 0 XM_011536545.1:c.1406+1872G>A, rs386597008, NM_001271877.1:c.*39G>A, XM_011536546.1:c.*39G>A, rs17766687, rs4986938, 4986938, NC_000014.9:g.64233098C>T, NC_000014.9:g.64233098=, NR_073505.1:n.2149+1872G>A, NR_073496.1:n.2010+1872G>A, 386597008, NG_011535.1:g.110453G>A, NG_011535.1:g.110453=, NC_000014.8:g.64699816C>T, 17766687, NM_001040275.1:c.1406+1872G>A, NM_001291723.1:c.1406+1872G>A, NM_001437.2:c.*39G>A, NM_001214902.1:c.1406+1872G>A, NR_073497.1:n.1600G>A, NC_000014.8:g.64699816=, NM_001291712.1:c.1406+1872G>A, NM_001271876.1:c.1406+1872G>A +PA166157611 rs4986988 PA17 NAT1 NC_000008.11:18221704 5 0 0 0 0 NC_000008.11:g.18221704=, NC_000008.10:g.18079213=, NM_001160174.2:c.-344C>T, NM_001160171.3:c.-6-338C>T, NM_001160173.3:c.-6-338C>T, NC_000008.11:g.18221704C>A, NM_001291962.1:c.181-338C>T, NG_012245.2:g.56243=, NM_001160176.3:c.181-338C>T, XM_011544688.1:c.181-338C>T, NM_001160170.3:c.-6-338C>T, XM_005273678.1:c.-6-338C>T, NC_000008.10:g.18079213C>T, 61012158, XM_011544689.1:c.-6-338C>T, 4986988, NC_000008.10:g.18079213C>A, rs4986988, NG_012245.2:g.56243C>T, NM_001160175.3:c.181-338C>T, XM_006716410.2:c.-6-338C>T, NM_001160179.2:c.-6-338C>T, rs61012158, NM_001160172.3:c.-6-338C>T, NM_000662.7:c.-6-338C>T, XM_005273679.1:c.-6-338C>T, NG_012245.2:g.56243C>A, rs386498510, XM_005273677.1:c.181-338C>T, XM_011544687.1:c.181-338C>T, NC_000008.11:g.18221704C>T, 386498510 +PA166157612 rs4986989 PA17 NAT1 NC_000008.11:18222008 5 0 0 0 0 XM_005273678.1:c.-6-34A>T, NM_001160173.3:c.-6-34A>T, NM_000662.7:c.-6-34A>T, XM_011544689.1:c.-6-34A>T, NG_012245.2:g.56547=, NM_001160175.3:c.181-34A>T, NC_000008.11:g.18222008A>T, NC_000008.10:g.18079517A>T, XM_006716410.2:c.-6-34A>T, XM_011544687.1:c.181-34A>T, NM_001291962.1:c.181-34A>T, rs4986989, 4986989, rs17693121, NC_000008.10:g.18079517=, NM_001160179.2:c.-6-34A>T, NG_012245.2:g.56547A>T, 56996453, NM_001160174.2:c.-40A>T, 17693121, NM_001160172.3:c.-6-34A>T, NM_001160171.3:c.-6-34A>T, XM_005273677.1:c.181-34A>T, NC_000008.11:g.18222008=, XM_005273679.1:c.-6-34A>T, NM_001160170.3:c.-6-34A>T, NM_001160176.3:c.181-34A>T, XM_011544688.1:c.181-34A>T, rs56996453 +PA166157613 rs4986990 PA17 NAT1 NC_000008.11:18222506 5 0 0 0 0 NP_001153644.1:p.Thr153=, rs17642082, XM_005273679.1:c.459G>A, NP_001153645.1:p.Thr153=, XP_005273734.1:p.Thr215=, NP_001153651.1:p.Thr153=, XP_011542989.1:p.Thr215=, NP_001153646.1:p.Thr153=, NM_001160174.2:c.459G>A, NC_000008.11:g.18222506G>A, NM_000662.7:c.459G>A, NP_000653.3:p.Thr153=, NP_001278891.1:p.Thr215=, XM_011544687.1:c.645G>A, NM_001160170.3:c.459G>A, rs4986990, 4986990, NC_000008.11:g.18222506=, NP_001153642.1:p.Thr153=, XP_011542990.1:p.Thr215=, NP_001153643.1:p.Thr153=, XM_011544688.1:c.645G>A, XP_005273735.1:p.Thr153=, NG_012245.2:g.57045=, XP_005273736.1:p.Thr153=, NM_001160176.3:c.645G>A, NC_000008.10:g.18080015=, NC_000008.10:g.18080015G>A, NM_001160171.3:c.459G>A, XM_011544689.1:c.459G>A, NG_012245.2:g.57045G>A, XM_005273678.1:c.459G>A, rs58366217, NP_001153648.1:p.Thr215=, XP_011542991.1:p.Thr153=, NP_001153647.1:p.Thr215=, XM_006716410.2:c.459G>A, NM_001160179.2:c.459G>A, XM_005273677.1:c.645G>A, XP_006716473.1:p.Thr153=, NM_001160173.3:c.459G>A, 17642082, NM_001160172.3:c.459G>A, NM_001160175.3:c.645G>A, 58366217, NM_001291962.1:c.645G>A +PA166157618 rs4987076 PA17 NAT1 NC_000008.11:18222492 5 0 0 0 0 XM_006716410.2:c.445G>A, NM_001160179.2:c.445G>A, NM_001291962.1:c.631G>A, NP_001278891.1:p.Val211Ile, NP_001153642.1:p.Val149Ile, NM_001160171.3:c.445G>A, rs59667199, NP_001153647.1:p.Val211Ile, rs52790966, XP_006716473.1:p.Val149Ile, XP_011542990.1:p.Val211Ile, XM_011544687.1:c.631G>A, NP_001153646.1:p.Val149Ile, XM_005273678.1:c.445G>A, XM_011544689.1:c.445G>A, NM_001160174.2:c.445G>A, XM_005273677.1:c.631G>A, NC_000008.10:g.18080001=, NP_001153643.1:p.Val149Ile, XM_005273679.1:c.445G>A, XP_005273736.1:p.Val149Ile, XP_005273735.1:p.Val149Ile, NC_000008.10:g.18080001G>C, NC_000008.10:g.18080001G>A, NM_001160175.3:c.631G>A, XP_005273734.1:p.Val211Ile, NG_012245.2:g.57031G>A, rs17642069, NG_012245.2:g.57031G>C, rs4987076, NM_001160170.3:c.445G>A, NM_000662.7:c.445G>A, NP_001153644.1:p.Val149Ile, 59667199, NM_001160176.3:c.631G>A, XM_011544688.1:c.631G>A, 17642069, NP_000653.3:p.Val149Leu, XP_011542989.1:p.Val211Ile, NP_000653.3:p.Val149Ile, NC_000008.11:g.18222492G>A, 52790966, NM_001160172.3:c.445G>A, NC_000008.11:g.18222492=, NP_001153645.1:p.Val149Ile, NG_012245.2:g.57031=, NC_000008.11:g.18222492G>C, NP_001153648.1:p.Val211Ile, XP_011542991.1:p.Val149Ile, NP_000653.3:p.Val149=, NP_001153651.1:p.Val149Ile, NM_001160173.3:c.445G>A, 4987076 +PA166157107 rs4987086 PA30474,PA435 LTA,TNF NC_000006.12:31574780 1 0 0 0 0 NT_167247.2:g.2916678G>A, NT_167248.1:g.2836195G>A, NT_167246.1:g.2885441G>A, NT_167245.2:g.2822513G>A, NT_167248.2:g.2830599G>A, NC_000006.12:g.31574780=, NT_167245.1:g.2828098G>A, NT_167249.2:g.2874060G>A, XM_011547886.1:c.*1087G>A, XM_011547885.1:c.*1087G>A, XM_011547884.1:c.*1087G>A, XM_011547883.1:c.*1087G>A, XM_011548440.1:c.*1087G>A, NM_000594.3:c.-962G>A, XM_011547250.1:c.*1087G>A, XM_011548437.1:c.*1087G>A, NM_001159740.2:c.*1087G>A, NC_000006.12:g.31574780G>A, XM_011547654.1:c.*1087G>A, XM_011548439.1:c.*1087G>A, XM_011547653.1:c.*1087G>A, XM_011548438.1:c.*1087G>A, 4987086, rs4987086, XM_011548243.1:c.*1087G>A, XM_011514614.1:c.*1087G>A, NT_167247.1:g.2922263G>A, XM_011514616.1:c.*1087G>A, NT_113891.3:g.3052067G>A, XM_011514615.1:c.*1087G>A, XM_011548436.1:c.*1087G>A, XM_011548050.1:c.*1087G>A, XM_011548051.1:c.*1087G>A, NT_167249.1:g.2873358G>A, XM_011514618.1:c.*1087G>A, NG_007462.1:g.4208=, NG_012010.1:g.7682G>A, XM_011514617.1:c.*1087G>A, XM_011548242.1:c.*1087G>A, NC_000006.11:g.31542557G>A, XM_011547887.1:c.*1087G>A, NC_000006.11:g.31542557=, NG_007462.1:g.4208G>A, NT_167246.2:g.2879821G>A, NM_000595.3:c.*1087G>A, NT_113891.2:g.3052173G>A, NG_012010.1:g.7682= +PA166170184 rs4987102 PA24679 AKR1C3 NC_000010.11:5097497 1 0 0 0 0 NP_003730.4:p.Ala106=, NC_000010.11:g.5097497=, NC_000010.11:g.5097497G>A, NC_000010.10:g.5139689=, NC_000010.10:g.5139689G>A, NG_047094.1:g.53732=, 4987102, rs4987102, NP_003730.4:p.Ala106Thr, NG_047094.1:g.53732G>A +PA166156009 rs4987121 PA26122 CBR3 NC_000021.9:36146381 1 0 0 0 0 NP_001227.1:p.Met235Val, rs52833559, NC_000021.8:g.37518679=, NC_000021.9:g.36146381=, NC_000021.8:g.37518679A>T, NP_001227.1:p.Met235Leu, NG_052818.1:g.16481=, NR_038892.1:n.93-26T>A, NG_052818.1:g.16481A>G, NC_000021.9:g.36146381A>G, NC_000021.8:g.37518679A>G, NM_001236.3:c.703A>T, 52833559, NG_052818.1:g.16481A>T, NR_038893.1:n.93-26T>A, NP_001227.1:p.Met235=, 4987121, rs4987121, NR_038894.1:n.93-26T>A, NC_000021.9:g.36146381A>T +PA166157408 rs4987161 PA130 CYP3A4 NC_000007.14:99768458 13 2 2 0 0 NG_008421.1:g.20728=, NC_000007.13:g.99366081A>G, XM_011515841.1:c.566T>C, NC_000007.14:g.99768458=, rs4987161, XP_011514143.1:p.Phe189Ser, NM_017460.5:c.566T>C, NM_001202855.2:c.566T>C, NC_000007.14:g.99768458A>G, NP_001189784.1:p.Phe189Ser, NG_008421.1:g.20728T>C, XP_011514144.1:p.Phe189Ser, NP_059488.2:p.Phe189=, NP_059488.2:p.Phe189Ser, XM_011515842.1:c.566T>C, NC_000007.13:g.99366081=, 4987161 +PA166157710 rs498974 PA38725 KCNT1 NC_000009.12:135715705 1 0 0 0 0 XR_930434.1:n.-1392T>A, rs118193341, NC_000009.12:g.135715705=, NC_000009.12:g.135715705A>T, rs61073966, NC_000009.11:g.138607551A>T, NG_033070.1:g.18521=, rs498974, XM_011518878.1:c.389+985A>T, NC_000009.11:g.138607551=, 61073966, XM_011518877.1:c.389+985A>T, NG_033070.1:g.18521A>T, 118193341, XM_005263407.1:c.254+985A>T, 498974, XM_011518879.1:c.389+985A>T, NM_001272003.1:c.110+13337A>T, NM_020822.2:c.254+985A>T +PA166154497 rs499368 PA35908 SLC6A12 NC_000012.12:211754 1 0 0 0 0 XM_005253748.1:c.-58+272A>T, XM_011521011.1:c.-58+272A>T, XM_005253748.3:c.-58+272A>T, NC_000012.11:g.320920T>C, NC_000012.11:g.320920T>A, NC_000012.12:g.211754T>C, XM_006719005.2:c.-58+272A>T, NC_000012.12:g.211754T>A, XM_005253747.3:c.-58+272A>T, XM_005253747.1:c.-58+272A>T, rs499368, NM_001122847.2:c.-58+272A>T, XM_005253746.1:c.-677A>T, rs59926658, NC_000012.11:g.320920=, NM_003044.4:c.-422+272A>T, NM_001206931.1:c.-57-1711A>T, XM_011521010.1:c.-58+272A>T, XM_005253745.1:c.-1607A>T, 499368, NM_001122848.2:c.-58+272A>T, XM_005253744.1:c.-58+272A>T, NC_000012.12:g.211754=, 59926658 +PA166157543 rs4994 PA24598 ADRB3 NC_000008.11:37966280 3 1 0 0 0 rs117258787, 17025, NG_011936.1:g.5387=, rs17025, NP_000016.1:p.Trp64=, NC_000008.10:g.37823798A>G, NG_011936.1:g.5387T>C, NC_000008.11:g.37966280=, rs4994, NC_000008.11:g.37966280A>G, NM_000025.2:c.190T>C, 4994, 117258787, NC_000008.10:g.37823798=, NP_000016.1:p.Trp64Arg +PA166177790 rs499796 PA31945 OPRM1 NC_000006.12:154051557 1 0 0 0 0 NG_021208.2:g.46057A>G, NC_000006.12:g.154051557A>G, NG_021208.2:g.46057=, NC_000006.11:g.154372692A>G, 499796, NC_000006.11:g.154372692=, NC_000006.12:g.154051557=, rs499796 +PA166223301 rs500766 PA33773 PRKCQ NC_000010.11:6508628 1 0 0 0 0 386597247, NC_000010.11:g.6508628=, NC_000010.11:g.6508628C>T, NC_000010.10:g.6550590=, 56605164, NC_000010.10:g.6550590C>T, 500766, rs500766, 61554200 +PA166155739 rs5009910 PA134920089 GALNT14 NC_000002.12:31026148 1 0 0 0 0 56597185, NG_051040.1:g.117579=, NC_000002.11:g.31249014T>C, NC_000002.11:g.31249014T>G, NG_051040.1:g.117579A>C, NM_024572.3:c.130-33141A>G, NC_000002.12:g.31026148T>A, NG_051040.1:g.117579A>G, NM_001253827.1:c.70-33141A>G, rs56597185, NC_000002.12:g.31026148T>C, XM_005264559.1:c.25-33141A>G, rs59566663, NM_001253826.1:c.315-59846A>G, 60531112, NR_045602.1:n.903-33141A>G, NG_051040.1:g.117579A>T, rs5009910, 5009910, 59566663, XM_011533104.1:c.448-33141A>G, NC_000002.12:g.31026148T>G, rs60531112, XM_011533106.1:c.43-33141A>G, NC_000002.12:g.31026148=, NC_000002.11:g.31249014=, NC_000002.11:g.31249014T>A, XM_011533105.1:c.70-33141A>G +PA166155270 rs501415 PA37784 WDR7 NC_000018.10:56651611 1 0 0 0 0 NC_000018.10:g.56651611=, XM_011525888.1:c.-20+35A>G, XM_005266673.1:c.-20+35A>G, NC_000018.9:g.54318842=, NC_000018.9:g.54318842A>G, NC_000018.10:g.56651611A>G, NM_052834.2:c.-20+35A>G, NM_015285.2:c.-20+35A>G, rs501415, XM_006722431.1:c.-207A>G, 501415 +PA166165066 rs502046 PA38220 RIMS1 NC_000006.12:71998178 1 0 0 0 0 rs502046, NG_016209.1:g.116232T>G, NC_000006.12:g.71998178T>C, NC_000006.11:g.72707881=, NC_000006.12:g.71998178T>G, NC_000006.12:g.71998178=, NC_000006.11:g.72707881T>C, NC_000006.11:g.72707881T>G, 502046, 719373, NG_016209.1:g.116232=, 58433442, NG_016209.1:g.116232T>C +PA166159070 rs502114 PA26687 CNTN3 NC_000003.12:74296091 1 0 0 0 0 rs502114, 502114, NC_000003.12:g.74296091=, NC_000003.11:g.74345242A>C, NC_000003.11:g.74345242A>T, NC_000003.11:g.74345242A>G, NC_000003.12:g.74296091A>C, NC_000003.12:g.74296091A>T, NC_000003.11:g.74345242=, NC_000003.12:g.74296091A>G, 17591171 +PA166157853 rs502434 PA28968 GRIA3 NC_000023.11:123403426 1 1 0 0 0 rs502434, NP_015564.4:p.Asn400=, NC_000023.10:g.122537277T>C, 17259428, NP_015564.5:p.Asn400=, NC_000023.11:g.123403426=, NP_000819.3:p.Asn400=, rs2228594, NC_000023.11:g.123403426T>C, XR_938574.1:n.5217+33824A>G, XP_005262463.1:p.Asn400=, 2228594, XM_005262406.1:c.1200T>C, rs17259428, XP_005262464.1:p.Asn223=, 502434, NG_009377.2:g.224184=, NC_000023.10:g.122537277=, XM_005262407.1:c.669T>C, NM_007325.4:c.1200T>C, NM_000828.4:c.1200T>C, NG_009377.2:g.224184T>C +PA166177402 rs5029748 PA29776 IKBKB NC_000008.11:42283031 1 0 0 0 0 NC_000008.11:g.42283031G>T, 59614393, NC_000008.10:g.42140549G>T, NC_000008.10:g.42140549=, NG_041793.1:g.16730=, 386597354, NG_041793.1:g.16730G>T, rs5029748, 17875669, 5029748, NC_000008.10:g.42140549G>A, NC_000008.11:g.42283031=, NC_000008.11:g.42283031G>A, NG_041793.1:g.16730G>A +PA166203416 rs5029924 PA36593 TNFAIP3 NC_000006.12:137866361 1 0 0 0 0 NC_000006.11:g.138187498C>T, NG_032761.1:g.3918=, rs5029924, 5029924, NC_000006.11:g.138187498=, NC_000006.12:g.137866361=, NC_000006.12:g.137866361C>T, NG_032761.1:g.3918C>T +PA166156111 rs5030655 PA128 CYP2D6 NC_000022.11:42129084 128 40 38 0 0 NP_000097.3:p.Trp152Glyfs, XM_011529966.1:c.454delT, NM_001025161.2:c.353-140delT, XR_430455.2:n.-787delA, NC_000022.11:g.42129084delA, XP_011546053.1:p.Trp80Glyfs, NW_009646208.1:g.14650delA, XR_952745.1:n.1611delT, NM_000106.5:c.454delT, NC_000022.10:g.42525086del, NG_008376.3:g.5908=, XM_005278353.1:c.363-141delT, NG_008376.3:g.5908delT, XP_005278411.1:p.Val52Glyfs, NG_008376.4:g.6727=, 28371709, rs5030655, XP_011528273.1:p.Val104Glyfs, rs11568727, NC_000022.10:g.42525086delA, XM_005278354.3:c.155delT, NC_000022.11:g.42129084=, XP_011528274.1:p.Trp152Glyfs, NP_000097.3:p.Trp152=, NG_008376.4:g.6727del, XP_011545843.1:p.Val52Glyfs, XP_011528268.1:p.Trp152Glyfs, XM_011529971.1:c.311delT, XM_011547756.1:c.-951delA, NT_187682.1:g.51425delA, XM_011529972.1:c.454delT, XP_011528269.1:p.Trp152Glyfs, XP_011528271.1:p.Val104Glyfs, XM_011547751.1:c.238delT, NC_000022.10:g.42525086=, NP_000097.3:p.Trp152fs, XP_011528270.1:p.Trp152Glyfs, NG_008376.3:g.5908del, XM_005278354.1:c.155delT, XM_011529969.1:c.311delT, XP_011547121.1:p.Val52Glyfs, 5030655, XM_011529970.1:c.353-140delT, XM_011547541.1:c.155delT, XP_011546052.1:p.Val104Glyfs, 11568727, NW_004504305.1:g.51411delA, XM_011548819.1:c.155delT, NC_000022.11:g.42129084del, rs28371709, XM_011547750.1:c.311delT, XM_011529968.1:c.454delT, XM_011529967.1:c.454delT +PA166156112 rs5030656 PA128 CYP2D6 NC_000022.11:42128176_42128178 54 10 10 0 0 587777919, XM_005278354.3:c.541_543delAAG, rs587777919, XM_011547541.1:c.541_543delAAG, NW_004504305.1:g.50501_50503delCTT, NP_000097.3:p.Glu280_Lys281=, NC_000022.10:g.42524176_42524178delCTT, NC_000022.11:g.42128174_42128176delCTT, NC_000022.10:g.42524178_42524180del, XM_011529968.1:c.841_843delAAG, XP_011528268.1:p.Lys281del, XP_011545843.1:p.Lys181del, NC_000022.11:g.42128176_42128178del, rs5030656, NC_000022.11:g.42128174_42128178=, XP_011528270.1:p.Lys281del, NM_000106.5:c.841_843delAAG, XR_430455.2:n.-1697_-1695del, XP_011528269.1:p.Lys281del, XP_011528271.1:p.Lys233del, XP_011547121.1:p.Lys181del, NG_008376.3:g.6816_6818delAAG, XP_011528272.1:p.Lys230del, XM_005278353.1:c.697_699delAAG, NP_001020332.2:p.Lys230del, XM_011547750.1:c.697_699delAAG, XM_011547756.1:c.-1861_-1859del, XP_011546053.1:p.Lys209del, XP_011528274.1:p.Lys281del, XM_011529971.1:c.697_699delAAG, XP_011546052.1:p.Lys233del, XM_011548819.1:c.541_543delAAG, NP_000097.3:p.Lys281del, XM_011529966.1:c.841_843delAAG, XP_005278410.1:p.Lys233del, XM_011529972.1:c.841_843delAAG, XM_011547751.1:c.625_627delAAG, XR_952745.1:n.1998_2000delAAG, XM_011529969.1:c.697_699delAAG, NW_009646208.1:g.13740_13742delCTT, NM_001025161.2:c.688_690delAAG, XM_011529967.1:c.841_843delAAG, 5030656, XP_011528273.1:p.Lys233del, NG_008376.3:g.6814_6818=, XM_011529970.1:c.688_690delAAG, NC_000022.10:g.42524176_42524180=, NG_008376.3:g.6816_6818del, NG_008376.4:g.7633_7637=, NG_008376.4:g.7635_7637del, XM_005278354.1:c.541_543delAAG, NT_187682.1:g.50515_50517delCTT, XP_005278411.1:p.Lys181del +PA166157782 rs5030728 PA36552 TLR4 NC_000009.12:117712004 2 1 0 0 0 NC_000009.12:g.117712004G>T, NG_011475.1:g.12823G>T, rs57589733, XM_005252182.1:c.255-385G>A, NC_000009.11:g.120474282G>T, NM_138554.3:c.261-385G>A, NM_138554.4:c.261-385G>A, NG_011475.1:g.12823G>A, NG_011475.1:g.12823=, NC_000009.12:g.117712004G>A, NM_138557.2:c.-340-385G>A, NC_000009.12:g.117712004=, 57589733, NC_000009.11:g.120474282=, NC_000009.11:g.120474282G>A, rs5030728, NM_003266.3:c.141-385G>A, 5030728 +PA166155740 rs5030743 PA299 RRM2 NC_000002.12:10123747 1 1 0 0 0 NP_001025.1:p.Ser110=, NC_000002.12:g.10123747=, NC_000002.12:g.10123747C>G, NM_001165931.1:c.510C>G, rs5030743, 5030743, NC_000002.11:g.10263874C>G, NC_000002.12:g.10123747C>T, NM_001034.3:c.330C>G, NC_000002.11:g.10263874=, NC_000002.11:g.10263874C>T, NP_001159403.1:p.Ser170= +PA166189122 rs5030843 PA32911 PAH NC_000012.12:102866632 2 2 0 0 0 NC_000012.11:g.103260410C>G, NP_000268.1:p.Arg158Pro, NC_000012.12:g.102866632C>G, rs5030843, 5030843, NG_008690.2:g.96779G>C, NG_008690.2:g.96779=, NG_008690.2:g.96779G>A, NC_000012.12:g.102866632=, NP_000268.1:p.Arg158Gln, 60774075, NC_000012.11:g.103260410=, NC_000012.11:g.103260410C>T, NP_000268.1:p.Arg158=, 386626632, NC_000012.12:g.102866632C>T +PA166189124 rs5030849 PA32911 PAH NC_000012.12:102852875 2 2 0 0 0 NC_000012.11:g.103246653C>G, NC_000012.12:g.102852875C>T, NC_000012.11:g.103246653C>A, NG_008690.2:g.110536=, NP_000268.1:p.Arg261Gln, NP_000268.1:p.Arg261Leu, NC_000012.12:g.102852875C>A, NP_000268.1:p.Arg261=, NG_008690.2:g.110536G>T, NC_000012.12:g.102852875C>G, NC_000012.11:g.103246653C>T, NC_000012.11:g.103246653=, NP_000268.1:p.Arg261Pro, rs5030849, NG_008690.2:g.110536G>A, 5030849, NC_000012.12:g.102852875=, NG_008690.2:g.110536G>C +PA166189125 rs5030858 PA32911 PAH NC_000012.12:102840493 2 2 0 0 0 28934898, 52789707, 62644491, NC_000012.12:g.102840493=, 57200983, NC_000012.11:g.103234271=, NG_008690.2:g.122918C>T, NP_000268.1:p.Arg408Trp, NG_008690.2:g.122918=, NC_000012.11:g.103234271G>A, rs5030858, 5030858, NC_000012.12:g.102840493G>A, NP_000268.1:p.Arg408= +PA166189126 rs5030860 PA32911 PAH NC_000012.12:102840474 2 2 0 0 0 NP_000268.1:p.Tyr414Cys, rs5030860, NG_008690.2:g.122937A>G, 5030860, NC_000012.12:g.102840474=, NC_000012.11:g.103234252=, NC_000012.12:g.102840474T>C, NC_000012.11:g.103234252T>C, NG_008690.2:g.122937=, 62644497, NP_000268.1:p.Tyr414= +PA166156113 rs5030862 PA128 CYP2D6 NC_000022.11:42130668 6 3 3 0 0 XP_011528268.1:p.Gly42Arg, 587777918, NM_001025161.2:c.124G>A, rs587777918, XR_952537.1:n.-1775C>T, XM_011529969.1:c.37+629G>A, XM_011529970.1:c.124G>A, NW_004504305.1:g.52995C>T, XR_952539.1:n.-1486C>T, XM_011547750.1:c.37+629G>A, XM_005278354.1:c.-1430G>A, NG_008376.3:g.4324G>A, NG_008376.3:g.4324=, XR_952745.1:n.1281G>A, XP_005278410.1:p.Gly42Arg, XP_011528272.1:p.Gly42Arg, NC_000022.10:g.42526670=, XM_011529972.1:c.124G>A, rs386597403, XP_011528274.1:p.Gly42Arg, NC_000022.11:g.42130668=, XM_011548819.1:c.-1430G>A, XM_011547756.1:c.42+445C>T, NW_009646208.1:g.16234C>T, XM_011529968.1:c.124G>A, XM_011547541.1:c.-1430G>A, XR_430455.2:n.308C>T, NC_000022.10:g.42526670C>T, NP_000097.3:p.Gly42=, XP_011528269.1:p.Gly42Arg, rs5030862, 5030862, XR_952536.1:n.-1775C>T, NG_008376.4:g.5143=, XM_011547751.1:c.-1090G>A, XR_952538.1:n.-1775C>T, NT_187682.1:g.53009C>T, NP_000097.3:p.Gly42Arg, 386597403, XM_011529967.1:c.124G>A, XM_005278353.1:c.124G>A, NC_000022.11:g.42130668C>T, XP_011528270.1:p.Gly42Arg, XM_011529971.1:c.37+629G>A, NG_008376.4:g.5143G>A, XM_011529966.1:c.124G>A, NM_000106.5:c.124G>A, XM_005278354.3:c.-1430G>A, NP_001020332.2:p.Gly42Arg +PA166156114 rs5030865 PA128 CYP2D6 NC_000022.11:42129033 32 8 8 0 0 NG_008376.4:g.6778G>T, NG_008376.3:g.5959G>A, XM_011529972.1:c.505G>A, XM_011529969.1:c.362G>A, XM_011547751.1:c.289G>A, XM_011529967.1:c.505G>T, XP_011528270.1:p.Gly169Arg, NT_187682.1:g.51374C>T, XR_952745.1:n.1662G>A, NG_008376.3:g.5959G>C, XP_011547121.1:p.Arg69Leu, NP_000097.3:p.Gly169Ter, NC_000022.11:g.42129033=, XP_011528268.1:p.Gly169Arg, NG_008376.3:g.5959G>T, XP_011528274.1:p.Gly169Arg, XM_005278353.1:c.363-90G>T, XP_011547121.1:p.Arg69Gln, XM_005278354.3:c.206G>A, XP_005278411.1:p.Arg69Gln, NC_000022.11:g.42129033C>T, XM_011529967.1:c.505G>A, XP_011528273.1:p.Arg121Leu, NG_008376.4:g.6778G>C, NG_008376.4:g.6778G>A, NG_008376.3:g.5959=, XP_011528269.1:p.Gly169Arg, XP_011528273.1:p.Arg121Gln, NT_187682.1:g.51374C>A, NM_001025161.2:c.353-89G>A, XM_005278354.3:c.206G>T, XM_011529966.1:c.505G>T, XP_005278411.1:p.Arg69Leu, XR_952745.1:n.1662G>T, XM_011529968.1:c.505G>A, NC_000022.10:g.42525035C>T, NG_008376.4:g.6778=, XP_011546053.1:p.Gly97Ter, XP_011546053.1:p.Gly97Arg, rs5030865, XR_430455.2:n.-838C>T, XM_005278354.1:c.206G>T, 5030865, NM_001025161.2:c.353-89G>T, NC_000022.10:g.42525035C>G, XP_011545843.1:p.Arg69Leu, NC_000022.10:g.42525035C>A, NM_000106.5:c.505G>T, XM_011547756.1:c.-1002C>A, XP_011546052.1:p.Arg121Leu, XM_005278354.1:c.206G>A, NC_000022.11:g.42129033C>A, NM_000106.5:c.505G>A, XM_011547750.1:c.362G>T, XP_011528268.1:p.Gly169Ter, NW_004504305.1:g.51360C>A, XR_430455.2:n.-838C>A, XM_011529968.1:c.505G>T, XP_011545843.1:p.Arg69Gln, NC_000022.11:g.42129033C>G, XM_011547541.1:c.206G>A, XP_011546052.1:p.Arg121Gln, XM_011529966.1:c.505G>A, NW_009646208.1:g.14599C>T, XM_011548819.1:c.206G>A, NP_000097.3:p.Gly169Arg, XM_011529971.1:c.362G>A, NP_000097.3:p.Gly169=, XP_011528271.1:p.Arg121Leu, XP_011528274.1:p.Gly169Ter, XM_011547541.1:c.206G>T, NW_004504305.1:g.51360C>T, XM_011529970.1:c.353-89G>T, XM_011529970.1:c.353-89G>A, XM_005278353.1:c.363-90G>A, NW_009646208.1:g.14599C>A, XM_011547751.1:c.289G>T, XM_011529972.1:c.505G>T, XP_011528270.1:p.Gly169Ter, XM_011529969.1:c.362G>T, XP_011528269.1:p.Gly169Ter, XP_011528271.1:p.Arg121Gln, XM_011529971.1:c.362G>T, XM_011547756.1:c.-1002C>T, XM_011548819.1:c.206G>T, NC_000022.10:g.42525035=, XM_011547750.1:c.362G>A +PA166156115 rs5030867 PA128 CYP2D6 NC_000022.11:42127856 22 6 6 0 0 XM_005278353.1:c.827A>C, NG_008376.3:g.7136=, 587777917, NM_000106.5:c.971A>C, NC_000022.11:g.42127856T>G, XM_011529972.1:c.844-222A>C, XM_011547751.1:c.755A>C, XM_011529967.1:c.971A>C, XM_005278354.3:c.671A>C, rs587777917, NP_000097.3:p.His324Pro, XP_011528268.1:p.His324Pro, XP_011528270.1:p.His324Pro, XM_011529971.1:c.827A>C, XR_952745.1:n.2001-222A>C, XM_011529970.1:c.818A>C, XP_011546052.1:p.His276Pro, NW_009646208.1:g.13422T>G, XM_011529966.1:c.971A>C, NC_000022.11:g.42127856=, NW_004504305.1:g.50183T>G, XP_011545843.1:p.His224Pro, XM_005278354.1:c.671A>C, XM_011529969.1:c.827A>C, NG_008376.3:g.7136A>C, XP_005278410.1:p.His276Pro, NP_000097.3:p.His324=, XP_011546053.1:p.His252Pro, NC_000022.10:g.42523858T>G, NG_008376.4:g.7955=, XM_011548819.1:c.671A>C, XP_011528272.1:p.His273Pro, XP_011547121.1:p.His224Pro, NM_001025161.2:c.818A>C, XP_011528273.1:p.His276Pro, rs5030867, XP_011528271.1:p.His276Pro, XM_011547541.1:c.671A>C, 5030867, NP_001020332.2:p.His273Pro, XP_011528269.1:p.His324Pro, XM_011529968.1:c.971A>C, NC_000022.10:g.42523858=, NG_008376.4:g.7955A>C, XP_005278411.1:p.His224Pro, NT_187682.1:g.50197T>G, XM_011547750.1:c.827A>C +PA166157880 rs5030868 PA28469,PA29777 G6PD,IKBKG NC_000023.11:154534419 11 8 7 0 0 NP_001035810.1:p.Ser188Phe, XM_011531132.1:c.656C>T, NC_000023.10:g.153762634=, XP_005274714.1:p.Ser219Phe, XM_005274657.2:c.656C>T, XM_005274658.1:c.566C>T, XM_005277834.1:c.566C>T, NP_000393.4:p.Ser218=, XP_005274715.1:p.Ser189Phe, XM_005274657.1:c.656C>T, XM_005277833.1:c.656C>T, NP_000393.4:p.Ser218Phe, NM_000402.4:c.653C>T, NC_000023.11:g.154534419=, NM_001042351.2:c.563C>T, XP_011529434.1:p.Ser219Phe, NC_000023.11:g.154534419G>A, NW_003871103.3:g.1968398G>A, XP_005277890.1:p.Ser219Phe, NG_009015.2:g.18154=, NG_009015.2:g.18154C>T, XP_005277891.1:p.Ser189Phe, rs5030868, XM_005274658.2:c.566C>T, 5030868, NC_000023.10:g.153762634G>A +PA166155741 rs5030952 PA26058 CAPN10 NC_000002.12:240603286 1 1 0 0 0 NC_000002.11:g.241542703C>G, rs5030952, NC_000002.11:g.241542703C>T, 5030952, NC_000002.12:g.240603286C>G, NC_000002.11:g.241542703=, NC_000002.12:g.240603286C>T, NC_000002.12:g.240603286= +PA166155422 rs5031016 PA121 CYP2A6 NC_000019.10:40843869 32 6 5 0 0 rs386597406, rs5031016, XM_005258568.1:c.1259T>C, 5031016, NG_008377.1:g.11579T>C, rs28399466, NC_000019.9:g.41349774A>G, NG_008377.1:g.11579=, NC_000019.10:g.40843869A>G, 60711313, NC_000019.9:g.41349774=, rs60711313, NC_000019.10:g.40843869=, NM_000762.5:c.1412T>C, 386597406, XP_005258625.1:p.Ile420Thr, 28399466, NP_000753.3:p.Ile471Thr, NP_000753.3:p.Ile471= +PA166155423 rs5031017 PA121 CYP2A6 NC_000019.10:40843845 1 1 1 0 0 NP_000753.3:p.Gly479=, NM_000762.5:c.1436G>T, rs5031017, 5031017, XM_005258568.1:c.1283G>T, NG_008377.1:g.11603G>T, NC_000019.9:g.41349750C>A, NG_008377.1:g.11603=, NC_000019.10:g.40843845C>A, NC_000019.9:g.41349750=, NC_000019.10:g.40843845=, NP_000753.3:p.Gly479Val, XP_005258625.1:p.Gly428Val +PA166175850 rs503464 PA26491 CHRNA5 NC_000015.10:78565554 3 1 0 0 0 59423896, NG_023328.1:g.5035=, rs503464, NG_023328.1:g.5035T>A, NC_000015.10:g.78565554=, 503464, 3813568, NC_000015.9:g.78857896T>A, NC_000015.10:g.78565554T>A, NC_000015.9:g.78857896= +PA166153546 rs5050 PA42 AGT NC_000001.11:230714140 3 1 0 0 0 rs36218430, rs5050, NC_000001.11:g.230714140T>G, NG_008836.2:g.5451=, NG_008836.1:g.5451=, rs56809081, NC_000001.10:g.230849886T>G, NC_000001.11:g.230714140=, NC_000001.10:g.230849886T>C, 5050, NM_000029.3:c.-58A>C, NC_000001.11:g.230714140T>C, 36218430, NG_008836.2:g.5451A>C, NC_000001.10:g.230849886=, NG_008836.1:g.5451A>C, 56809081, NG_008836.1:g.5451A>G, NG_008836.2:g.5451A>G +PA166153547 rs5051 PA42 AGT NC_000001.11:230714126 5 2 0 0 0 rs3789681, NC_000001.11:g.230714126C>G, 3789681, rs16852405, NC_000001.11:g.230714126C>T, rs5051, NG_008836.2:g.5465G>C, NG_008836.2:g.5465G>A, NC_000001.10:g.230849872=, 16852405, NG_008836.1:g.5465G>T, rs36218427, 60366145, NG_008836.1:g.5465=, NC_000001.11:g.230714126=, NG_008836.1:g.5465G>A, NG_008836.2:g.5465=, NM_000029.3:c.-44G>A, 36218427, NC_000001.10:g.230849872C>G, NG_008836.1:g.5465G>C, rs60366145, NC_000001.10:g.230849872C>A, 5051, NC_000001.11:g.230714126C>A, NG_008836.2:g.5465G>T, NC_000001.10:g.230849872C>T +PA166302981 rs505802 PA38478 SLC22A12 NC_000011.10:64589600 1 0 0 0 0 NC_000011.10:g.64589600=, rs505802, NG_008110.1:g.3791T>C, NC_000011.9:g.64357072=, NG_008110.1:g.3791T>A, NC_000011.9:g.64357072T>C, NC_000011.9:g.64357072T>A, NC_000011.10:g.64589600T>A, 61087867, NC_000011.10:g.64589600T>C, 505802, 1152607, NG_008110.1:g.3791= +PA166183860 rs506247 PA31945 OPRM1 NC_000006.12:154074792 1 0 0 0 0 NG_021208.2:g.69292=, NC_000006.12:g.154074792=, NG_021208.2:g.69292A>C, 506247, rs506247, NC_000006.11:g.154395927=, NC_000006.11:g.154395927A>C, NC_000006.12:g.154074792A>C +PA166153548 rs5063 PA256,PA165752124 NPPA,NPPA-AS1 NC_000001.11:11847591 1 1 0 0 0 5063, NR_037806.1:n.1637C>T, rs386597503, NM_006172.3:c.94G>A, 118109392, NP_006163.1:p.Val32=, NP_006163.1:p.Val32Met, rs118109392, NC_000001.10:g.11907648C>T, rs5063, rs56762574, NC_000001.11:g.11847591=, NG_012926.1:g.5193G>A, 386597503, NC_000001.10:g.11907648=, 56762574, NG_012926.1:g.5193=, NC_000001.11:g.11847591C>T +PA166153549 rs5065 PA26551,PA256,PA165752124 CLCN6,NPPA,NPPA-AS1 NC_000001.11:11846011 5 1 0 0 0 NC_000001.11:g.11846011A>G, 5065, 57081035, rs1130764, NR_037806.1:n.1479+245A>G, NG_012926.1:g.6773=, NC_000001.10:g.11906068=, 17413194, rs17856153, rs198363, 1130764, rs5065, NG_012926.1:g.6773T>C, rs57081035, NP_006163.1:p.Ter152Arg, NP_006163.1:p.Ter152=, rs17413194, NM_006172.3:c.454T>C, NC_000001.10:g.11906068A>G, 198363, NC_000001.11:g.11846011=, 3189984, rs3189984, 17856153 +PA166153572 rs506546 PA134884681 CSMD2 NC_000001.11:33973693 1 0 0 0 0 59672244, NM_001281956.1:c.518-37739G>A, NC_000001.10:g.34439294C>G, XM_005270417.1:c.518-37739G>A, NC_000001.11:g.33973693C>G, NG_053181.1:g.197150=, rs59672244, 506546, NC_000001.10:g.34439294=, NM_052896.4:c.398-37739G>A, NC_000001.11:g.33973693C>T, NG_053181.1:g.197150G>C, NG_053181.1:g.197150G>A, rs506546, NC_000001.10:g.34439294C>T, XM_011540572.1:c.518-37739G>A, NC_000001.11:g.33973693= +PA166156922 rs506770 PA29498,PA29500 HSPA1A,HSPA1L NC_000006.12:31817451 1 0 0 0 0 XM_005275402.1:c.-2015C>G, XM_005275402.1:c.-2015G>C, NT_113891.2:g.3294808C>G, XM_005274856.1:c.984C>G, 11751974, NT_167245.2:g.3065230G>C, rs506770, XM_005249068.1:c.984G=, XM_005272811.1:c.984C=, NT_167245.1:g.3070815G>C, XP_005275452.1:p.Ala400=, 56898045, XM_005275401.1:c.-14+3564C>G, XM_005275401.1:c.-14+3564G>C, 3899065, NC_000006.12:g.31817451=, NP_005336.3:p.Ala565=, XM_005274968.1:c.984G>C, XM_005272814.1:c.-1884C>G, XM_005272816.2:c.-14+3564C>G, XM_005272816.2:c.-14+3564G>C, XM_005274971.1:c.-1884C>G, XM_005274971.1:c.-1884G>C, XM_005272814.1:c.-1884G>C, XM_005249067.1:c.1200G=, XM_011546311.1:c.-14+3565C>G, XM_011546311.1:c.-14+3565G>C, 140446899, rs11751974, XM_005274862.1:c.-2015C>G, XM_005274862.1:c.-2015G>C, XM_005275400.1:c.-14+4752C>G, XM_005275400.1:c.-14+4752G>C, XM_005249073.2:c.-14+3562C>G, XM_005249073.2:c.-14+3562G>C, NT_167245.1:g.3070815G=, XM_005249073.1:c.-14+3562C>G, XM_005249073.1:c.-14+3562G>C, XP_005275025.1:p.Ala328=, XM_005272815.1:c.-14+4752C>G, XM_005272815.1:c.-14+4752G>C, XP_005274913.1:p.Ala328=, 506770, XP_005249124.1:p.Ala400=, XM_005274973.1:c.-14+3562C>G, XM_005274973.1:c.-14+3562G>C, rs3899065, NG_011855.1:g.2608C>T, NG_011855.1:g.2608C>G, NC_000006.11:g.31785228=, XM_005274858.1:c.-1884C>G, XM_005274858.1:c.-1884G>C, rs56898045, XP_005275453.1:p.Ala328=, XM_005274860.1:c.-14+4752C>G, XM_005274860.1:c.-14+4752G>C, NC_000006.11:g.31785228G=, XM_005274973.2:c.-14+3562C>G, XM_005274973.2:c.-14+3562G>C, XP_005249125.1:p.Ala328=, NT_167245.2:g.3065230G=, NT_167244.2:g.3150073C=, NC_000006.12:g.31817451G=, XM_005249067.1:c.1200G>C, NM_005345.5:c.1695G=, XM_005249074.1:c.-1884G>C, NG_011855.1:g.2608=, XM_005249074.1:c.-1884C>G, rs17849589, XM_005272816.1:c.-14+3564C>G, XM_005272816.1:c.-14+3564G>C, XM_005274856.1:c.984C=, NT_167248.1:g.3078875C=, XM_011547246.1:c.-14+3564C>G, XM_011547246.1:c.-14+3564G>C, XM_005275398.1:c.-1884C>G, XM_005275398.1:c.-1884G>C, rs35857194, XM_005274974.1:c.-2015C>G, XM_005274974.1:c.-2015G>C, NT_113891.2:g.3294808C=, NT_167248.2:g.3073279C>G, XM_005272817.1:c.-2015C>G, XM_005272817.1:c.-2015G>C, NT_113891.3:g.3294702C>G, XM_011547652.1:c.-14+3562C>G, XM_011547652.1:c.-14+3562G>C, 17849589, NT_167244.1:g.3099989C>G, XP_005272868.1:p.Ala328=, XM_005274968.1:c.984G=, rs33998554, NG_011855.1:g.2608C=, NT_167244.1:g.3099989C=, XM_005275396.1:c.984C>G, NT_113891.3:g.3294702C=, NT_167244.2:g.3150073C>G, XM_011514566.1:c.-14+3562C>G, XM_011514566.1:c.-14+3562G>C, 35857194, XM_005274861.2:c.-14+3565C>G, XM_005274861.2:c.-14+3565G>C, NM_005345.5:c.1695G>C, XM_005275395.1:c.1200C>G, NC_000006.12:g.31817451G>A, NC_000006.12:g.31817451G>C, NT_167248.2:g.3073279C=, XM_005249068.1:c.984G>C, NT_167248.1:g.3078875C>G, rs140446899, 33998554, XM_005249072.1:c.-14+4749C>G, XM_005249072.1:c.-14+4749G>C, XM_005272811.1:c.984C>G, NC_000006.11:g.31785228G>A, NC_000006.11:g.31785228G>C, XM_005274861.1:c.-14+3565C>G, XM_005274861.1:c.-14+3565G>C, XM_011548238.1:c.-14+3564C>G, XM_011548238.1:c.-14+3564G>C, XM_005249071.1:c.-2015C>G, XM_005249071.1:c.-2015G>C, XM_005275395.1:c.1200C=, XM_005275401.2:c.-14+3564C>G, XM_005275401.2:c.-14+3564G>C, XM_005274972.1:c.-14+4749C>G, XM_005274972.1:c.-14+4749G>C, XM_005275396.1:c.984C= +PA166184212 rs508448 PA31942 OPRD1 NC_000001.11:28855013 6 1 0 0 0 386597574, 74224157, 508448, NC_000001.10:g.29181525=, NC_000001.11:g.28855013=, NC_000001.11:g.28855013A>G, rs508448, NC_000001.10:g.29181525A>G, 59807979, 703179 +PA166159977 rs50872 PA27848 ERCC2 NC_000019.10:45359191 2 1 0 0 0 NG_007067.2:g.16397T>C, NG_007067.2:g.16397T>A, NG_007067.2:g.16397=, 386597581, NC_000019.9:g.45862449A>G, rs50872, NC_000019.9:g.45862449=, NC_000019.10:g.45359191A>T, 50872, 59251613, NC_000019.10:g.45359191A>G, NC_000019.9:g.45862449A>T, NC_000019.10:g.45359191= +PA166154251 rs5090 PA24887 APOA4 NC_000011.10:116823339 1 0 0 0 0 NC_000011.9:g.116694055C>G, 17244652, rs17244652, NC_000011.9:g.116694055=, NC_000011.10:g.116823339C>G, NM_000482.3:c.-148G>C, rs5090, NC_000011.10:g.116823339=, 5090, NG_012044.1:g.4957=, NG_012044.1:g.4957G>C +PA166154252 rs5092 PA24887 APOA4 NC_000011.10:116822748 1 0 0 0 0 rs5092, NC_000011.10:g.116822748=, NG_012044.1:g.5548=, rs17244645, NG_012044.1:g.5548G>C, NG_012044.1:g.5548G>A, 5092, NC_000011.10:g.116822748C>G, NM_000482.3:c.87G>A, NC_000011.9:g.116693464C>T, NP_000473.2:p.Thr29=, NC_000011.9:g.116693464=, 17244645, NC_000011.9:g.116693464C>G, NC_000011.10:g.116822748C>T +PA166154679 rs510317 PA160 F7 NC_000013.11:113105440 4 0 0 0 0 NM_001267554.1:c.-402A>G, 10482840, NG_009262.1:g.4650A>G, rs59513874, NC_000013.10:g.113759754A>G, NC_000013.11:g.113105440=, NR_051961.1:n.-348A>G, NC_000013.11:g.113105440A>T, NM_000131.4:c.-402A>G, XM_006719963.2:c.-402A>G, rs762637, rs118091088, NG_009262.1:g.4650A>T, XM_011537475.1:c.-402A>G, rs36232712, XM_011537474.1:c.-402A>G, 59513874, rs2854147, NC_000013.10:g.113759754=, 2854147, 36208068, NC_000013.11:g.113105440A>G, rs510317, XM_011537477.1:c.-402A>G, 762637, 36232712, NM_019616.3:c.-402A>G, 118091088, rs1745933, rs36208068, 1745933, NG_009262.1:g.4650=, NC_000013.10:g.113759754A>T, rs10482840, 510317 +PA166154680 rs510335 PA160 F7 NC_000013.11:113105441 4 0 0 0 0 NC_000013.11:g.113105441G>A, 1755686, NC_000013.10:g.113759755=, NC_000013.11:g.113105441G>C, 10482841, NM_019616.3:c.-401G>T, 7981123, rs7981123, XM_011537474.1:c.-401G>T, NG_009262.1:g.4651=, XM_011537475.1:c.-401G>T, rs116847340, rs36232713, NM_001267554.1:c.-401G>T, NR_051961.1:n.-347G>T, rs1755686, NC_000013.10:g.113759755G>T, XM_011537477.1:c.-401G>T, 36208069, XM_006719963.2:c.-401G>T, 116847340, NM_000131.4:c.-401G>T, NG_009262.1:g.4651G>A, NC_000013.10:g.113759755G>A, NG_009262.1:g.4651G>C, NC_000013.10:g.113759755G>C, rs510335, 36232713, NC_000013.11:g.113105441=, rs36208069, NC_000013.11:g.113105441G>T, rs10482841, 510335, NG_009262.1:g.4651G>T +PA166154253 rs5104 PA24887 APOA4 NC_000011.10:116821618 1 0 0 0 0 61905135, NP_000473.2:p.Ser147Thr, NC_000011.9:g.116692334C>G, NC_000011.10:g.116821618C>T, 17244617, NC_000011.10:g.116821618=, NC_000011.9:g.116692334C>A, NG_012044.1:g.6678G>T, NM_000482.3:c.440G>A, NC_000011.10:g.116821618C>G, NG_012044.1:g.6678=, NC_000011.9:g.116692334C>T, rs5104, NC_000011.10:g.116821618C>A, rs61905135, NC_000011.9:g.116692334=, NP_000473.2:p.Ser147=, 5104, NP_000473.2:p.Ser147Ile, rs17244617, NG_012044.1:g.6678G>A, NP_000473.2:p.Ser147Asn, NG_012044.1:g.6678G>C +PA166156923 rs510432 PA24880 ATG5 NC_000006.12:106326155 1 1 0 0 0 NM_004849.3:c.-688A>G, NC_000006.12:g.106326155=, NC_000006.11:g.106774030=, 510432, NC_000006.11:g.106774030T>C, rs386597641, XM_011536263.1:c.-688A>G, rs510432, NC_000006.12:g.106326155T>C, XM_005267231.1:c.-794A>G, 386597641, rs3761794, NM_001286106.1:c.-938A>G, NM_001286108.1:c.-688A>G, NM_001286111.1:c.-688A>G, 3761794, NM_001286107.1:c.-794A>G +PA166156924 rs510769 PA31945 OPRM1 NC_000006.12:154040884 12 4 0 0 0 rs386597658, NC_000006.12:g.154040884=, XR_245535.1:n.476+1050C>T, XM_006715497.2:c.476+1050C>T, NM_001285523.1:c.290+1050C>T, rs61175746, NM_001145281.2:c.47+30325C>T, NR_104349.1:n.424+1050C>T, XM_005267002.1:c.476+1050C>T, rs510769, NM_001008504.3:c.290+1050C>T, 61175746, NG_021208.2:g.35384C>T, NM_001145279.3:c.569+1050C>T, 52810976, rs3778144, NM_001145284.3:c.290+1050C>T, NR_104350.1:n.424+1050C>T, 3778144, NC_000006.12:g.154040884C>T, NC_000006.11:g.154362019=, NC_000006.11:g.154362019C>T, NG_021208.1:g.35384C>T, NM_001145283.2:c.290+1050C>T, NM_001145286.2:c.290+1050C>T, XM_011535849.1:c.569+1050C>T, NM_001008505.2:c.290+1050C>T, NM_000914.4:c.290+1050C>T, 17174649, XR_245536.1:n.476+1050C>T, rs52810976, 510769, NM_001145280.3:c.-11+29866C>T, NG_021208.2:g.35384=, XR_245534.1:n.476+1050C>T, rs17174649, NM_001145285.2:c.290+1050C>T, NM_001145282.2:c.290+1050C>T, NM_001008503.2:c.290+1050C>T, NR_104351.1:n.424+1050C>T, XR_245537.1:n.476+1050C>T, 386597658, NM_001285522.1:c.290+1050C>T, NM_001285524.1:c.569+1050C>T, NR_104348.1:n.424+1050C>T +PA166156489 rs511310 NC_000004.12:46237987 1 0 0 0 0 rs511310, NC_000004.11:g.46240004=, NC_000004.11:g.46240004A>T, 511310, NC_000004.12:g.46237987A>G, NC_000004.11:g.46240004A>G, 59093609, rs59093609, NC_000004.12:g.46237987A>T, NC_000004.12:g.46237987= +PA166183701 rs511435 PA31945 OPRM1 NC_000006.12:154047412 5 2 0 0 0 NC_000006.12:g.154047412C>T, NC_000006.11:g.154368547C>T, NC_000006.12:g.154047412=, NG_021208.2:g.41912C>G, rs511435, NC_000006.11:g.154368547C>G, 59340663, NC_000006.12:g.154047412C>G, NG_021208.2:g.41912=, NC_000006.11:g.154368547=, 511435, 56562618, NG_021208.2:g.41912C>T +PA166182540 rs512077 PA330 SLC22A3 NC_000006.12:160353896 1 0 0 0 0 512077, NC_000006.11:g.160774928=, 58416314, NC_000006.11:g.160774928A>T, NC_000006.12:g.160353896=, 60169077, NC_000006.12:g.160353896A>T, 16891480, 56462327, NC_000006.11:g.160774928A>C, rs512077, NC_000006.11:g.160774928A>G, NC_000006.12:g.160353896A>G, NC_000006.12:g.160353896A>C +PA166154254 rs5128 PA53 APOC3 NC_000011.10:116832924 7 2 0 0 0 rs45487004, rs17257817, NM_000040.1:c.*40G>C, NC_000011.9:g.116703640G>C, NC_000011.9:g.116703640=, 45487004, NG_008949.1:g.8017G>C, NC_000011.10:g.116832924=, rs5128, 17257817, rs3168249, 3168249, NG_008949.1:g.8017=, 5128, NC_000011.10:g.116832924G>C +PA166185487 rs514743 PA26491 CHRNA5 NC_000015.10:78591885 4 0 0 0 0 NC_000015.10:g.78591885T>C, NC_000015.10:g.78591885T>A, NG_016143.1:g.34411A>C, NC_000015.10:g.78591885=, 514743, NG_016143.1:g.34411A>G, 58514102, NG_023328.1:g.31366=, NC_000015.9:g.78884227T>G, rs514743, NC_000015.9:g.78884227T>C, NG_016143.1:g.34411A>T, NG_023328.1:g.31366T>G, NG_016143.1:g.34411=, 17408388, NC_000015.9:g.78884227T>A, NC_000015.9:g.78884227=, NG_023328.1:g.31366T>A, NC_000015.10:g.78591885T>G, NG_023328.1:g.31366T>C +PA166157854 rs518147 PA194 HTR2C NC_000023.11:114584109 12 1 0 0 0 NG_012082.2:g.5025=, NC_000023.10:g.113818582G>C, NC_000023.11:g.114584109C>G, 518147, NG_012082.2:g.5025C>G, NM_000868.3:c.-697C>G, rs518147, NC_000023.10:g.113818582G>A, NG_012082.2:g.5025C=, NM_001256761.2:c.-697C>G, NM_001256760.2:c.-788C>G, rs17326409, NM_000868.3:c.-697C=, NC_000023.11:g.114584109C>A, NW_004070891.1:g.252911C=, NW_004070891.1:g.252911C>G, NM_001256760.2:c.-788C=, NM_001256761.2:c.-697C=, rs3813930, 3813930, NC_000023.10:g.113818582G=, NC_000023.11:g.114584109=, 17326409, NG_012082.2:g.5025C>A +PA166156275 rs5182 PA43 AGTR1 NC_000003.12:148741608 3 2 0 0 0 NG_008468.1:g.48738C>G, NM_004835.4:c.678C>T, NP_114438.2:p.Leu220=, rs3772606, rs56755191, 3772606, NP_004826.5:p.Leu226=, NP_033611.1:p.Leu191=, 5182, 17845691, rs275648, NG_008468.1:g.48738C>T, rs17858633, NC_000003.11:g.148459395C>G, rs17231259, 275648, NC_000003.11:g.148459395C>T, rs17845691, NC_000003.12:g.148741608=, rs5182, NP_000676.1:p.Leu191=, NG_008468.1:g.48738=, 17231259, 17858633, NC_000003.11:g.148459395=, NC_000003.12:g.148741608C>G, NM_000685.4:c.573C>T, NP_114038.4:p.Leu226=, NM_009585.3:c.573C>T, NM_032049.3:c.660C>T, NC_000003.12:g.148741608C>T, 56755191, NM_031850.3:c.678C>T +PA166157855 rs518329 PA33725 PRDX4 NC_000023.11:23677119 1 1 0 0 0 XM_005274438.1:c.434+2013T>C, 518329, NC_000023.11:g.23677119T>G, 57824784, NC_000023.10:g.23695236=, NG_012563.1:g.14592T>G, NC_000023.11:g.23677119T>C, NC_000023.11:g.23677119=, NG_012563.1:g.14592T>C, rs1033051, 1033051, rs518329, NG_012563.1:g.14592=, NC_000023.10:g.23695236T>G, rs57824784, NM_006406.1:c.476+2013T>C, NC_000023.10:g.23695236T>C +PA166156053 rs518350 NC_000022.11:27261583 1 1 0 0 0 rs60893949, rs518350, 60893949, rs56642782, NC_000022.10:g.27657544=, NC_000022.10:g.27657544C>T, 56642782, NC_000022.11:g.27261583C>T, NC_000022.11:g.27261583=, 518350 +PA166184600 rs518596 PA31945 OPRM1 NC_000006.12:154141243 1 0 0 0 0 NC_000006.12:g.154141243G>A, NC_000006.12:g.154141243=, NG_021208.2:g.135743=, NG_021208.2:g.135743G>A, NC_000006.11:g.154462378G>A, rs518596, NC_000006.11:g.154462378=, 518596, 57568317 +PA166156276 rs5186 PA43 AGTR1 NC_000003.12:148742201 21 11 0 0 0 NC_000003.12:g.148742201A>C, 5186, NG_008468.1:g.49331=, NM_032049.3:c.*86A>C, NM_009585.3:c.*86A>C, NC_000003.12:g.148742201=, NM_000685.4:c.*86A>C, 17231380, NG_008468.1:g.49331A>C, NM_031850.3:c.*86A>C, 3192044, rs59796105, rs5186, rs3192044, rs386597902, rs3732563, 3732563, NC_000003.11:g.148459988A>C, rs17231380, NM_004835.4:c.*86A>C, 386597902, 59796105, NC_000003.11:g.148459988= +PA166155271 rs520210 PA31534 NEDD4L NC_000018.10:58140841 1 1 0 0 0 NM_001243960.1:c.49-24947G>A, NM_015277.5:c.49-24947G>A, XM_006722428.2:c.49-24947G>A, rs520210, NC_000018.9:g.55808073G>A, NM_001144964.1:c.-315-24947G>A, XM_005266666.1:c.49-24947G>A, XM_006722426.2:c.49-24947G>A, NG_029954.1:g.101464G>A, 56503292, 56865389, NC_000018.9:g.55808073=, NG_029954.1:g.101464=, NM_001144967.2:c.49-24947G>A, 520210, NC_000018.10:g.58140841G>A, NC_000018.10:g.58140841=, rs56503292, rs56865389 +PA166153573 rs521093 NC_000001.11:109825608 1 1 0 0 0 386597973, NC_000001.11:g.109825608C>T, rs386597973, rs56690132, 56690132, NC_000001.11:g.109825608=, rs521093, 521093, NC_000001.10:g.110368230C>T, NC_000001.10:g.110368230= +PA166154255 rs5215 PA217 KCNJ11 NC_000011.10:17387083 5 0 0 0 0 XM_005252910.1:c.838G>A, NP_000516.3:p.Val337Ile, rs56731467, NC_000011.10:g.17387083=, NP_001159762.1:p.Val250Ile, NC_000011.10:g.17387083C>T, NG_012446.1:g.6577=, XR_930867.1:n.1167G>A, 56731467, NC_000011.9:g.17408630=, NM_001166290.1:c.748G>A, NG_012446.1:g.6577G>A, XM_006718226.2:c.748G>A, rs5215, XP_006718289.1:p.Val250Ile, 5215, NC_000011.9:g.17408630C>T, NP_000516.3:p.Val337=, NM_000525.3:c.1009G>A, XP_005252967.1:p.Val280Ile +PA166270141 rs521674 PA35 ADRA2A NC_000010.11:111075832 1 0 0 0 0 NC_000010.11:g.111075832=, NG_012020.1:g.3801T>A, 521674, NC_000010.10:g.112835590=, NC_000010.11:g.111075832T>A, rs521674, NG_012020.1:g.3801=, NC_000010.10:g.112835590T>A +PA166154256 rs5219 PA24395,PA217 ABCC8,KCNJ11 NC_000011.10:17388025 19 6 0 0 0 rs386597997, NP_000516.3:p.Lys23Gln, rs80356607, NC_000011.10:g.17388025=, NP_000516.3:p.Lys23=, NP_000516.3:p.Lys23Ter, XM_005252910.1:c.67A>G, NC_000011.9:g.17409572=, NG_012446.1:g.5635A>C, NC_000011.10:g.17388025T>C, NG_012446.1:g.5635A>G, NC_000011.10:g.17388025T>A, 80356607, XP_005252967.1:p.Lys23Glu, NP_000516.3:p.Lys23Glu, 5219, NC_000011.10:g.17388025T>G, NG_012446.1:g.5635=, NG_012446.1:g.5635A>T, NC_000011.9:g.17409572T>C, 193929332, NC_000011.9:g.17409572T>A, XR_930867.1:n.225A>G, 57819118, NM_001166290.1:c.-16-179A>G, NC_000011.9:g.17409572T>G, rs117591309, rs193929332, 117591309, rs5219, NM_000525.3:c.67A>G, 386597997, rs57819118, XM_006718226.2:c.-16-179A>G +PA166159609 rs5224 PA80 BDKRB2 NC_000014.9:96241120 1 0 0 0 0 NP_000614.1:p.Thr264=, NC_000014.8:g.96707457=, NC_000014.8:g.96707457A>C, rs5224, 5224, NC_000014.9:g.96241120=, NC_000014.9:g.96241120A>G, NC_000014.8:g.96707457A>G, NC_000014.9:g.96241120A>C, NC_000014.8:g.96707457A>T, NC_000014.9:g.96241120A>T +PA166263961 rs523349 PA36113 SRD5A2 NC_000002.12:31580636 4 1 0 0 0 NC_000002.11:g.31805706G>C, NC_000002.11:g.31805706G>A, NG_008365.1:g.5336C>A, NP_000339.2:p.Leu89=, NC_000002.12:g.31580636=, 523349, NC_000002.11:g.31805706G>T, NC_000002.12:g.31580636G>T, NG_008365.1:g.5336C>G, NC_000002.11:g.31805706=, NG_008365.1:g.5336=, 806644, rs523349, 59775323, 1805135, NP_000339.2:p.Leu89Ile, NC_000002.12:g.31580636G>A, NG_008365.1:g.5336C>T, NP_000339.2:p.Leu89Val, NC_000002.12:g.31580636G>C +PA166183702 rs524731 PA31945 OPRM1 NC_000006.12:154053957 5 4 0 0 0 790541, rs524731, NC_000006.12:g.154053957=, NG_021208.2:g.48457C>A, NC_000006.11:g.154375092=, 524731, 17209086, 60921868, NC_000006.11:g.154375092C>A, NG_021208.2:g.48457=, NC_000006.12:g.154053957C>A +PA166153550 rs5272 PA293 PTGS2 NC_000001.11:186674705 2 0 0 0 0 5272, NC_000001.11:g.186674705=, NC_000001.10:g.186643837T>C, NM_000963.3:c.1463A>G, rs386598159, NP_000954.1:p.Glu488=, rs5272, 386598159, NG_028206.2:g.10723=, NP_000954.1:p.Glu488Gly, NG_028206.2:g.10723A>G, NC_000001.11:g.186674705T>C, NC_000001.10:g.186643837= +PA166153551 rs5273 PA293 PTGS2 NC_000001.11:186674636 3 0 0 0 0 NG_028206.2:g.10792T>C, 5273, NC_000001.11:g.186674636=, NP_000954.1:p.Val511=, NG_028206.2:g.10792=, 52790653, NC_000001.10:g.186643768A>G, NC_000001.11:g.186674636A>G, NP_000954.1:p.Val511Ala, NC_000001.10:g.186643768A>C, rs5273, NP_000954.1:p.Val511Gly, NC_000001.10:g.186643768=, NC_000001.11:g.186674636A>C, rs52790653, NG_028206.2:g.10792T>G, NM_000963.3:c.1532T>C +PA166184578 rs527434 PA31945 OPRM1 NC_000006.12:154050775 1 0 0 0 0 527434, rs527434, NC_000006.11:g.154371910T>A, NC_000006.12:g.154050775T>C, NG_021208.2:g.45275=, NG_021208.2:g.45275T>C, 17174673, NG_021208.2:g.45275T>A, NC_000006.11:g.154371910T>C, NC_000006.12:g.154050775T>A, NC_000006.11:g.154371910=, NC_000006.12:g.154050775= +PA166153552 rs5275 PA293 PTGS2 NC_000001.11:186673926 2 1 0 0 0 NC_000001.10:g.186643058A>G, 5275, rs3170885, NM_000963.3:c.*427T>C, 3170885, rs5275, rs59727615, NC_000001.11:g.186673926A>G, NG_028206.2:g.11502T>C, NG_028206.2:g.11502=, NG_028206.2:g.11502T>A, 59727615, NC_000001.11:g.186673926=, NC_000001.10:g.186643058A>T, NC_000001.11:g.186673926A>T, NC_000001.10:g.186643058= +PA166319465 rs527580106 PA145 DPYD NC_000001.11:97828118 1 1 0 0 0 NG_008807.2:g.97942=, NC_000001.11:g.97828118T>C, NC_000001.11:g.97828118=, NP_000101.2:p.Met77Val, NC_000001.10:g.98293674T>C, NG_008807.2:g.97942A>G, rs527580106, 527580106, NP_000101.2:p.Met77=, NC_000001.10:g.98293674= +PA166177421 rs5277 PA293 PTGS2 NC_000001.11:186679065 1 0 0 0 0 NC_000001.11:g.186679065C>G, NG_028206.2:g.6363G>C, NP_000954.1:p.Val102=, 1131950, NC_000001.10:g.186648197=, 5277, NG_028206.2:g.6363=, NG_028206.2:g.6363G>A, rs5277, 17588094, NC_000001.10:g.186648197C>G, NC_000001.11:g.186679065=, NC_000001.11:g.186679065C>T, NC_000001.10:g.186648197C>T, 2230030 +PA166155263 rs52797880 PA24903 APOH NC_000017.11:66220736 1 0 0 0 0 NC_000017.10:g.64216854A>C, NC_000017.11:g.66220736A>G, NG_012045.1:g.13703T>G, rs117879669, NC_000017.10:g.64216854=, rs52797880, NC_000017.11:g.66220736A>C, NP_000033.2:p.Ile141=, NG_012045.1:g.13703T>C, XM_005257304.1:c.422T>C, 117879669, NC_000017.10:g.64216854A>G, NG_012045.1:g.13703=, NM_000042.2:c.422T>C, NP_000033.2:p.Ile141Thr, NC_000017.11:g.66220736=, NP_000033.2:p.Ile141Ser, 52797880, XP_005257361.1:p.Ile141Thr +PA166319467 rs528152707 PA145 DPYD NC_000001.11:97740453 1 1 0 0 0 NC_000001.10:g.98206009C>A, rs528152707, NG_008807.2:g.185607=, NP_000101.2:p.Cys87=, NC_000001.11:g.97740453=, 528152707, NP_000101.2:p.Cys87Phe, NC_000001.10:g.98206009=, NC_000001.11:g.97740453C>A, NG_008807.2:g.185607G>T +PA166319902 rs528430685 PA145 DPYD NC_000001.11:97573871 1 0 0 0 0 NC_000001.11:g.97573871=, rs528430685, NG_008807.2:g.352189=, NG_008807.2:g.352189C>G, NP_000101.2:p.Arg410Gly, NG_008807.2:g.352189C>A, NP_000101.2:p.Arg410=, NP_000101.2:p.Arg410Trp, NC_000001.10:g.98039427G>T, NC_000001.11:g.97573871G>T, NC_000001.10:g.98039427G>C, 528430685, NC_000001.10:g.98039427G>A, NG_008807.2:g.352189C>T, NC_000001.10:g.98039427=, NC_000001.11:g.97573871G>C, NC_000001.11:g.97573871G>A +PA166319947 rs529019871 PA145 DPYD NC_000001.11:97382404 1 0 0 0 0 NG_008807.2:g.543656A>G, rs529019871, NC_000001.10:g.97847960=, 529019871, NP_000101.2:p.Lys655=, NP_000101.2:p.Lys655Glu, NC_000001.10:g.97847960T>C, NG_008807.2:g.543656=, NC_000001.11:g.97382404=, NC_000001.11:g.97382404T>C +PA166180971 rs529038948 PA85 CACNA1S NC_000001.11:201085496 1 0 0 0 0 NP_000060.2:p.Arg364=, NC_000001.10:g.201054624=, NG_009816.1:g.32071=, NG_009816.2:g.32071C>T, NP_000060.2:p.Arg364Trp, NC_000001.10:g.201054624G>A, NG_009816.1:g.32071C>T, NC_000001.11:g.201085496=, rs529038948, NC_000001.11:g.201085496G>A, NG_009816.2:g.32071=, 529038948 +PA166153574 rs529520 PA31942 OPRD1 NC_000001.11:28848434 9 1 0 0 0 rs61493073, rs529520, rs386598235, 17362661, NC_000001.11:g.28848434A>C, NM_000911.3:c.228-10520A>C, NC_000001.10:g.29174946=, rs17362661, 386598235, NC_000001.11:g.28848434A>G, NC_000001.10:g.29174946A>C, 529520, NC_000001.11:g.28848434=, 61493073, NC_000001.10:g.29174946A>G +PA166203422 rs529949 PA27471 DPT NC_000001.11:168722746 1 0 0 0 0 1337746, 58415853, NC_000001.11:g.168722746C>T, NC_000001.11:g.168722746=, NC_000001.11:g.168722746C>A, NC_000001.10:g.168691984C>A, rs529949, NC_000001.10:g.168691984=, NC_000001.10:g.168691984C>T, 529949 +PA166181067 rs530303678 PA134926902 CYP2D7 NC_000022.11:42144328 2 0 0 0 0 NC_000022.10:g.42540329del, 530303678, NC_000022.11:g.42144327_42144328=, NC_000022.10:g.42540328_42540329=, rs530303678, NC_000022.11:g.42144328del +PA166207626 rs530950257 PA126 CYP2C9 NC_000010.11:94988994 1 0 0 0 0 NC_000010.11:g.94988994=, NC_000010.10:g.96748751=, NG_008385.2:g.55837C>T, NP_000762.2:p.Pro480=, NG_008385.2:g.55837=, 530950257, NC_000010.11:g.94988994C>T, NG_008385.1:g.55337C>T, NP_000762.2:p.Pro480Leu, rs530950257, NC_000010.10:g.96748751C>T, NG_008385.1:g.55337= +PA166236761 rs531738678 PA25294 BCHE NC_000003.12:165830868 1 1 0 0 0 NC_000003.11:g.165548656=, 531738678, NG_009031.1:g.11598=, NP_000046.1:p.Phe56Ile, rs531738678, NC_000003.12:g.165830868=, NG_009031.1:g.11598T>A, NC_000003.12:g.165830868A>T, NC_000003.11:g.165548656A>T, NP_000046.1:p.Phe56= +PA166233887 rs5320 PA136 DBH NC_000009.12:133642351 4 0 0 0 0 61440943, 5320, NG_008645.1:g.10989=, NP_000778.3:p.Ala211Thr, NG_008645.1:g.10989G>A, NC_000009.12:g.133642351G>A, NC_000009.11:g.136507473=, rs5320, NP_000778.3:p.Ala211=, NC_000009.12:g.133642351=, NC_000009.11:g.136507473G>A +PA166319906 rs532341730 PA145 DPYD NC_000001.11:97573827 1 0 0 0 0 532341730, NC_000001.11:g.97573827A>T, NC_000001.10:g.98039383A>C, NG_008807.2:g.352233T>G, NG_008807.2:g.352233=, NP_000101.2:p.Asp424=, NC_000001.10:g.98039383A>G, NC_000001.10:g.98039383=, NC_000001.11:g.97573827A>G, NG_008807.2:g.352233T>A, NG_008807.2:g.352233T>C, NC_000001.11:g.97573827A>C, NC_000001.10:g.98039383A>T, NP_000101.2:p.Asp424Glu, NC_000001.11:g.97573827=, rs532341730 +PA166153575 rs532545 PA98 CDA NC_000001.11:20588679 12 2 0 0 0 rs2072669, NC_000001.10:g.20915172C>A, 386598350, rs532545, NC_000001.11:g.20588679=, NC_000001.11:g.20588679C>A, NM_001785.2:c.-451C>T, rs386598350, NC_000001.11:g.20588679C>T, NC_000001.10:g.20915172C>T, 532545, NC_000001.10:g.20915172=, 2072669 +PA166156707 rs5326 PA147 DRD1 NC_000005.10:175443193 4 1 0 0 0 NC_000005.9:g.174870196C>T, NC_000005.10:g.175443193=, NM_000794.3:c.-94G>A, NG_011802.1:g.5968G>A, rs5326, NG_011802.1:g.5968=, 5326, 59257322, rs59257322, NC_000005.9:g.174870196=, NC_000005.10:g.175443193C>T +PA166156255 rs532668079 PA128 CYP2D6 NC_000022.11:42126746 4 1 1 0 0 rs532668079, XP_005278410.1:p.Arg393His, NP_000097.3:p.Arg441=, XM_011529966.1:c.1322G>A, NC_000022.11:g.42126746C>T, XM_005278354.1:c.1022G>A, NC_000022.11:g.42126746=, NG_008376.4:g.9065G>A, XM_011547750.1:c.1178G>A, XP_011528268.1:p.Arg441His, XP_011546052.1:p.Arg393His, XP_011528270.1:p.Arg441His, NW_004504305.1:g.49073C>T, XM_011529971.1:c.1178G>A, 532668079, XM_011529967.1:c.1322G>A, XM_011529968.1:c.1322G>A, XR_952745.1:n.2337G>A, XM_005278353.1:c.1178G>A, NG_008376.3:g.8246G>A, NG_008376.4:g.9065=, NC_000022.10:g.42522748=, NW_009646208.1:g.12312C>T, NP_000097.3:p.Arg441His, XM_011529970.1:c.1169G>A, XP_011528273.1:p.Arg393His, NT_187682.1:g.49087C>T, XP_011528272.1:p.Arg390His, XM_011547751.1:c.1106G>A, NG_008376.3:g.8246=, XM_005278354.3:c.1022G>A, XP_011528269.1:p.Arg441His, NM_001025161.2:c.1169G>A, NC_000022.10:g.42522748C>T, XP_011546053.1:p.Arg369His, XM_011529969.1:c.1178G>A, XP_005278411.1:p.Arg341His, XP_011528271.1:p.Arg393His, NP_001020332.2:p.Arg390His, NM_000106.5:c.1322G>A +PA166179882 rs533123 PA31942 OPRD1 NC_000001.11:28814643 3 0 0 0 0 59250561, rs533123, NC_000001.11:g.28814643=, NC_000001.11:g.28814643G>A, NC_000001.10:g.29141155=, NC_000001.10:g.29141155G>C, 533123, NC_000001.11:g.28814643G>C, NC_000001.10:g.29141155G>A +PA166181773 rs5333 PA27617 EDNRA NC_000004.12:147539885 1 0 0 0 0 3190170, NP_001948.1:p.His323=, 61151633, NC_000004.12:g.147539885=, 5333, NC_000004.11:g.148461037=, rs5333, NG_013343.1:g.63969=, NG_013343.1:g.63969T>C, NC_000004.12:g.147539885T>C, 17839142, NC_000004.11:g.148461037T>C +PA166307621 rs533334893 PA116 ABCC2 NC_000010.11:99792360 1 0 0 0 0 533334893, NC_000010.10:g.101552117G>A, NC_000010.11:g.99792360=, NC_000010.10:g.101552117=, rs533334893, NC_000010.11:g.99792360G>A, NG_011798.2:g.14763G>A, NG_011798.2:g.14763= +PA166154275 rs533556 PA165543631 SIK3 NC_000011.10:116870856 1 0 0 0 0 XM_005271481.2:c.1738-455T>G, XM_005271484.1:c.1564-455T>G, XM_005271486.1:c.-705T>G, XM_011542726.1:c.1738-455T>G, XM_011542725.1:c.1261-455T>G, XM_005271485.1:c.-705T>G, rs59533686, NM_001281749.1:c.1594-455T>G, NC_000011.9:g.116741572A>C, NM_001281748.1:c.1261-455T>G, XM_011542721.1:c.1738-455T>G, 59533686, XM_011542724.1:c.1261-455T>G, NC_000011.9:g.116741572=, NM_025164.4:c.1738-455T>G, XM_005271481.1:c.1738-455T>G, XM_011542722.1:c.1738-455T>G, rs533556, XM_005271483.1:c.1594-455T>G, XM_005271485.2:c.-705T>G, NC_000011.10:g.116870856=, XM_005271484.3:c.1738-455T>G, XM_005271482.1:c.1420-455T>G, 2270391, XM_011542723.1:c.1261-455T>G, 533556, rs2270391, NC_000011.10:g.116870856A>C, XM_005271482.3:c.1594-455T>G +PA166290042 rs535039125 PA123 CYP2B6 NC_000019.10:41004380 2 0 0 0 0 NP_000758.1:p.Arg140=, NC_000019.10:g.41004380C>T, NG_007929.1:g.18082=, NC_000019.10:g.41004380=, NC_000019.9:g.41510285=, NC_000019.9:g.41510285C>T, 535039125, NG_007929.1:g.18082C>T, NP_000758.1:p.Arg140Trp, rs535039125 +PA166319501 rs536577604 PA145 DPYD NC_000001.11:97721526 1 1 0 0 0 NG_008807.2:g.204534A>G, NC_000001.10:g.98187082T>C, rs536577604, NG_008807.2:g.204534=, 536577604, NC_000001.10:g.98187082=, NP_000101.2:p.Gln156=, NC_000001.11:g.97721526=, NC_000001.11:g.97721526T>C, NP_000101.2:p.Gln156Arg +PA166156901 rs5370 PA27614 EDN1 NC_000006.12:12296022 5 3 0 0 0 NC_000006.12:g.12296022=, NG_016196.1:g.10727=, rs5370, XM_011514331.1:c.594G>T, NC_000006.12:g.12296022G>T, NG_016196.1:g.10727G>T, XP_011512632.1:p.Lys198Asn, XR_241977.1:n.971C>A, NP_001946.3:p.Lys198Asn, 17858054, rs17845238, XM_011514330.1:c.594G>T, rs57072783, XM_011514332.1:c.591G>T, NC_000006.11:g.12296255=, rs2229566, 2229566, rs17858054, 5370, NP_001946.3:p.Lys198=, NC_000006.11:g.12296255G>T, 17845238, NM_001955.4:c.594G>T, 57072783, NM_001168319.1:c.591G>T, NP_001161791.1:p.Lys197Asn, XP_011512634.1:p.Lys197Asn, XP_011512633.1:p.Lys198Asn +PA166154276 rs537681 PA266 PGR NC_000011.10:101117303 2 0 0 0 0 XM_006718858.2:c.1789+8704G>A, NC_000011.9:g.100988034=, rs52792782, NR_073141.2:n.1782+8704G>A, rs61506996, NR_073143.2:n.1782+8704G>A, XR_947831.1:n.3361+8704G>A, NM_001271162.1:c.7+8704G>A, 61506996, NG_016475.1:g.17511G>A, NM_001202474.3:c.1297+8704G>A, XM_011542869.1:c.*2969G>A, 74240269, NM_000926.4:c.1789+8704G>A, 537681, NC_000011.10:g.101117303=, NG_016475.1:g.17511=, NC_000011.9:g.100988034C>T, NM_001271161.2:c.1297+8704G>A, 52792782, NR_073142.2:n.1782+8704G>A, NC_000011.10:g.101117303C>T, rs74240269, rs537681 +PA166184676 rs538174 PA31945 OPRM1 NC_000006.12:154131402 1 0 0 0 0 13207518, NG_021208.2:g.125902T>C, rs538174, NC_000006.11:g.154452537=, NC_000006.11:g.154452537T>C, NC_000006.12:g.154131402=, NG_021208.2:g.125902=, 538174, 58020908, NC_000006.12:g.154131402T>C +PA166319664 rs538336580 PA145 DPYD NC_000001.11:97721599 1 1 0 0 0 NG_008807.2:g.204461A>T, 538336580, NC_000001.10:g.98187155T>A, NC_000001.11:g.97721599T>A, NP_000101.2:p.Thr132=, rs538336580, NG_008807.2:g.204461=, NC_000001.11:g.97721599=, NC_000001.10:g.98187155=, NP_000101.2:p.Thr132Ser +PA166319642 rs538703919 PA145 DPYD NC_000001.11:97306282 1 1 0 0 0 rs538703919, NG_008807.2:g.619778=, NP_000101.2:p.Arg692Trp, NC_000001.11:g.97306282=, 538703919, NC_000001.10:g.97771838=, NC_000001.10:g.97771838G>A, NP_000101.2:p.Arg692=, NC_000001.11:g.97306282G>A, NG_008807.2:g.619778C>T +PA166157856 rs539748 PA194 HTR2C NC_000023.11:114586876 1 0 0 0 0 NM_000868.3:c.-147+2217C>T, NM_000868.3:c.-147+2217T>C, NC_000023.10:g.113821349T=, NC_000023.10:g.113821349T>C, NW_004070891.1:g.255678C=, NC_000023.11:g.114586876=, NG_012082.2:g.7792=, rs17260551, rs539748, NM_001256760.2:c.-238+2217C>T, NM_001256760.2:c.-238+2217T>C, rs56834670, 56834670, NW_004070891.1:g.255678C>T, NG_012082.2:g.7792C>T, NC_000023.11:g.114586876C>T, 17260551, 539748, NG_012082.2:g.7792C=, NM_001256761.2:c.-147+2217C>T, NM_001256761.2:c.-147+2217T>C +PA166178596 rs540825 PA31945 OPRM1 NC_000006.12:154093311 4 1 0 0 0 NG_021208.2:g.87811A>T, NC_000006.12:g.154093311A>T, NC_000006.11:g.154414446A>G, 56611310, NC_000006.11:g.154414446A>C, NP_001008505.2:p.Gln402His, NC_000006.11:g.154414446=, 540825, NC_000006.12:g.154093311A>C, NC_000006.12:g.154093311=, NC_000006.12:g.154093311A>G, NG_021208.2:g.87811=, NG_021208.2:g.87811A>C, NC_000006.11:g.154414446A>T, NG_021208.2:g.87811A>G, 52803359, NP_001008505.2:p.Gln402=, rs540825, 58178545 +PA166179353 rs544027339 PA126 CYP2C9 NC_000010.11:94972166 1 1 0 0 0 NG_008385.1:g.38509G>T, NG_008385.2:g.39009G>A, NP_000762.2:p.Leu294Phe, NG_008385.2:g.39009=, NC_000010.10:g.96731923G>A, NC_000010.11:g.94972166G>A, NC_000010.10:g.96731923=, NP_000762.2:p.Leu294=, NC_000010.10:g.96731923G>T, NG_008385.1:g.38509G>A, NC_000010.11:g.94972166G>T, 544027339, NC_000010.11:g.94972166=, rs544027339, NG_008385.2:g.39009G>T, NG_008385.1:g.38509= +PA166156925 rs544093 PA31945 OPRM1 NC_000006.12:154136358 3 1 0 0 0 NC_000006.12:g.154136358G>T, rs59335321, NG_021208.2:g.130858G>T, NG_021208.1:g.130858G>T, NC_000006.11:g.154457493G>T, NC_000006.12:g.154136358=, rs544093, NC_000006.11:g.154457493=, NM_001008503.2:c.1164+44886G>T, 544093, NG_021208.2:g.130858=, 59335321, NG_021208.2:g.130858G>A, NC_000006.12:g.154136358G>A, NC_000006.11:g.154457493G>A +PA166185647 rs5441 PA176,PA134890414 GNB3,P3H3 NC_000012.12:6839862 1 1 0 0 0 NG_033740.1:g.16490A>T, NC_000012.12:g.6839862=, NC_000012.12:g.6839862A>T, 5441, NG_009100.1:g.4652A>G, NG_009100.2:g.4652=, rs5441, NC_000012.11:g.6949026A>G, NG_009100.2:g.4652A>T, 58923113, NG_009100.1:g.4652=, NC_000012.12:g.6839862A>G, NG_009100.1:g.4652A>T, NC_000012.11:g.6949026=, NC_000012.11:g.6949026A>T, NG_009100.2:g.4652A>G, 17726385, NG_033740.1:g.16490=, NG_033740.1:g.16490A>G +PA166154485 rs5442 PA26276,PA176,PA37253 CDCA3,GNB3,USP5 NC_000012.12:6845700 2 0 0 0 0 NC_000012.11:g.6954864=, NP_002066.1:p.Gly272=, rs16932941, 5442, 17857535, NP_002066.1:p.Gly272Ser, XP_011519256.1:p.Gly271Ser, XM_011520954.1:c.811G>A, XM_005253681.1:c.702-17G>A, NC_000012.12:g.6845700=, NW_003871083.2:g.47284G>A, XM_005277751.1:c.814G>A, XP_011519255.1:p.Gly272Ser, XM_011520953.1:c.814G>A, 16932941, XM_005253680.1:c.811G>A, rs59150134, NG_009100.1:g.10490=, 17857681, NC_000012.11:g.6954864G>A, XM_005277753.1:c.702-17G>A, NG_009100.2:g.10490G>A, XM_011521029.1:c.*2047C>T, NM_001297571.1:c.811G>A, XP_005277808.1:p.Gly272Ser, NG_009100.2:g.10490=, rs17857681, 59150134, rs5442, NP_001284500.1:p.Gly271Ser, rs17844824, XM_011521030.1:c.*1980C>T, XM_011521028.1:c.*1829C>T, XM_005253679.1:c.814G>A, XM_011521027.1:c.*1829C>T, XP_005277809.1:p.Gly271Ser, rs17857535, NG_009100.1:g.10490G>A, NC_000012.12:g.6845700G>A, XP_005253736.1:p.Gly272Ser, XP_005253737.1:p.Gly271Ser, NM_002075.3:c.814G>A, 2230333, rs2230333, XM_005277752.1:c.811G>A, 17844824 +PA166154486 rs5443 PA26276,PA176,PA37253 CDCA3,GNB3,USP5 NC_000012.12:6845711 33 15 0 0 0 NC_000012.11:g.6954875C>T, rs6489738, NG_009100.1:g.10501C>T, 6489738, 57419337, XM_005277753.1:c.702-6C>T, 5443, XP_011519255.1:p.Ser275=, NG_009100.1:g.10501=, XM_011521029.1:c.*2036G>A, XP_005253736.1:p.Ser275=, rs57419337, NP_002066.1:p.Ser275=, XP_005253737.1:p.Ser274=, rs3138516, 3138516, NG_009100.2:g.10501C>T, XP_005277809.1:p.Ser274=, XM_011520953.1:c.825C>T, XP_011519256.1:p.Ser274=, XM_005253680.1:c.822C>T, NM_001297571.1:c.822C>T, NC_000012.11:g.6954875=, NW_003871083.2:g.47295C>T, NP_001284500.1:p.Ser274=, XM_005253681.1:c.702-6C>T, XM_011520954.1:c.822C>T, rs5443, NC_000012.12:g.6845711=, XM_005277751.1:c.825C>T, XM_011521028.1:c.*1818G>A, XM_011521027.1:c.*1818G>A, XM_005253679.1:c.825C>T, NC_000012.12:g.6845711C>T, XP_005277808.1:p.Ser275=, 2230334, rs2230334, NM_002075.3:c.825C>T, XM_005277752.1:c.822C>T, XM_011521030.1:c.*1969G>A, NG_009100.2:g.10501= +PA166154487 rs5445 PA26276,PA176 CDCA3,GNB3 NC_000012.12:6847016 1 0 0 0 0 NW_003871083.2:g.48600C>T, XM_005277753.1:c.*118C>T, XM_011521030.1:c.*1134-113G>A, NC_000012.12:g.6847016=, 743598, rs5445, NC_000012.12:g.6847016C>T, XM_011521029.1:c.*1201-113G>A, NC_000012.11:g.6956180=, XM_005277752.1:c.*118C>T, XM_005253680.1:c.*118C>T, XM_005277751.1:c.*118C>T, NM_002075.3:c.*118C>T, rs743598, XM_005253681.1:c.*118C>T, NG_009100.1:g.11806=, NM_001297603.1:c.545-113G>A, NG_009100.2:g.11806C>T, XM_011521027.1:c.*983-113G>A, NM_001297571.1:c.*118C>T, NG_009100.1:g.11806C>T, NG_009100.2:g.11806=, 5445, NC_000012.11:g.6956180C>T, XM_005253679.1:c.*118C>T, XM_011521028.1:c.*983-113G>A +PA166186134 rs544820732 PA343 SULT1A1 NC_000016.10:28608717 3 3 0 0 0 NG_028128.1:g.19829C>T, NP_001046.2:p.Pro47=, NC_000016.9:g.28620038=, NC_000016.10:g.28608717G>A, NC_000016.9:g.28620038G>A, NG_028128.1:g.19829=, 544820732, NP_001046.2:p.Pro47Ser, NC_000016.10:g.28608717=, rs544820732 +PA166157711 rs546120 PA38725,PA134899168 KCNT1,SOHLH1 NC_000009.12:135703102 1 0 0 0 0 rs546120, NG_033070.1:g.5918G>C, NC_000009.11:g.138594948=, NG_033070.1:g.5918G>A, XR_930435.1:n.912-165C>T, 59918025, XM_005263407.1:c.110+734G>A, 1075387, XM_011518879.1:c.-1614G>A, rs1075387, NG_033070.1:g.5918G>T, NC_000009.11:g.138594948G>T, NG_033784.1:g.1427=, rs59918025, XM_006717109.2:c.-3127C>T, XM_011518698.1:c.-2998C>T, NG_033784.1:g.1427C>T, NC_000009.12:g.135703102G>T, NG_033070.1:g.5918=, NC_000009.12:g.135703102=, NG_033784.1:g.1427C>A, XR_930436.1:n.748-165C>T, XM_011518878.1:c.-1614G>A, NG_033784.1:g.1427C>G, XM_011518877.1:c.-1614G>A, NM_020822.2:c.110+734G>A, NC_000009.12:g.135703102G>C, NC_000009.12:g.135703102G>A, NC_000009.11:g.138594948G>C, NM_001272003.1:c.110+734G>A, 546120, NC_000009.11:g.138594948G>A +PA166163212 rs547099198 PA145 DPYD NC_000001.11:97234916 1 0 0 0 0 NP_000101.2:p.Thr793Ile, NC_000001.10:g.97700472G>A, NC_000001.10:g.97700472=, NP_000101.2:p.Thr793=, NG_008807.2:g.691144C>T, NC_000001.11:g.97234916G>A, NG_008807.2:g.691144=, rs547099198, 547099198, NC_000001.11:g.97234916= +PA166307465 rs547742211 PA390 ABCG2 NC_000004.12:88101285 1 0 0 0 0 NP_004818.2:p.Cys438=, rs547742211, 547742211, NC_000004.12:g.88101285A>G, NC_000004.11:g.89022437A>G, NG_032067.2:g.135038=, NP_004818.2:p.Cys438Arg, NG_032067.2:g.135038T>C, NC_000004.11:g.89022437=, NC_000004.12:g.88101285= +PA166156926 rs548234 PA33707 PRDM1 NC_000006.12:106120159 1 0 0 0 0 rs548234, NC_000006.11:g.106568034C>G, NC_000006.11:g.106568034=, NC_000006.11:g.106568034C>A, NC_000006.12:g.106120159C>T, NC_000006.12:g.106120159C>G, 13220305, 56922927, NC_000006.12:g.106120159=, NC_000006.12:g.106120159C>A, NC_000006.11:g.106568034C>T, rs13220305, rs56922927, 548234 +PA166179967 rs548646 PA31945 OPRM1 NC_000006.12:154097012 6 2 0 0 0 NC_000006.12:g.154097012=, NG_021208.2:g.91512T>G, 56551697, NC_000006.11:g.154418147=, NC_000006.11:g.154418147T>C, 60318642, NG_021208.2:g.91512=, NC_000006.11:g.154418147T>A, NC_000006.11:g.154418147T>G, NG_021208.2:g.91512T>A, NG_021208.2:g.91512T>C, NC_000006.12:g.154097012T>G, NC_000006.12:g.154097012T>C, 548646, rs548646, NC_000006.12:g.154097012T>A, 59979278 +PA166319703 rs548783838 PA145 DPYD NC_000001.11:97382436 1 1 0 0 0 rs548783838, NP_000101.2:p.Ser644Asn, NC_000001.10:g.97847992=, 548783838, NC_000001.11:g.97382436C>T, NG_008807.2:g.543624G>A, NC_000001.11:g.97382436=, NP_000101.2:p.Ser644=, NC_000001.10:g.97847992C>T, NG_008807.2:g.543624= +PA166316683 rs550261161 PA27121 CYP4F2 NC_000019.10:15879614 1 0 0 0 0 rs550261161, NC_000019.9:g.15990424=, NP_001073.3:p.Pro435Leu, NG_007971.2:g.23461C>T, NP_001073.3:p.Pro435=, 550261161, NC_000019.10:g.15879614=, NC_000019.10:g.15879614G>A, NC_000019.9:g.15990424G>A, NG_007971.2:g.23461= +PA166154232 rs550527959 PA124 CYP2C19 NC_000010.11:94842954 4 0 0 0 0 NG_008384.3:g.85274A>T, NP_000760.1:p.Asp360Val, NC_000010.11:g.94842954A>C, rs550527959, NC_000010.10:g.96602711A>T, 550527959, NP_000760.1:p.Asp360Ala, NG_008384.3:g.85274=, NM_000769.2:c.1079A>T, NG_008384.3:g.85274A>C, NP_000760.1:p.Asp360=, NC_000010.11:g.94842954A>T, NC_000010.10:g.96602711=, NM_000769.1:c.1079A>T, NC_000010.11:g.94842954=, NG_008384.2:g.85249A>T, NC_000010.10:g.96602711A>C +PA166156481 rs5522 PA242 NR3C2 NC_000004.12:148436323 1 1 0 0 0 NC_000004.12:g.148436323=, XM_005263014.1:c.538G>A, NM_000901.4:c.538G>A, NP_000892.2:p.Val180=, XP_011530278.1:p.Val180Ile, XM_011531977.1:c.538G>A, NM_001166104.1:c.538G>A, rs5522, NC_000004.11:g.149357475C>T, rs58241352, XM_011531978.1:c.538G>A, XP_011530280.1:p.Val180Ile, NG_013350.1:g.11198=, NC_000004.12:g.148436323C>T, NP_001159576.1:p.Val180Ile, XM_011531975.1:c.538G>A, XR_244631.1:n.901G>A, XP_011530277.1:p.Val180Ile, 58241352, NG_013350.1:g.11198G>A, XP_005263071.1:p.Val180Ile, XP_011530279.1:p.Val180Ile, NC_000004.11:g.149357475=, 5522, NP_000892.2:p.Val180Ile, XM_011531976.1:c.538G>A +PA166186138 rs552524124 PA343 SULT1A1 NC_000016.10:28606152 3 3 0 0 0 NC_000016.10:g.28606152=, NC_000016.9:g.28617473T>G, NP_803880.1:p.Thr149Pro, 552524124, NC_000016.10:g.28606152T>G, NC_000016.9:g.28617473=, NG_028128.1:g.22394A>C, rs552524124, NG_028128.1:g.22394=, NP_803880.1:p.Thr149= +PA166179697 rs553050853 PA344 SULT1A3 NC_000016.10:30200780 4 4 0 0 0 NC_000016.10:g.30200780=, NP_808220.1:p.Val18=, NP_808220.1:p.Val18Phe, rs553050853, NC_000016.10:g.30200780G>T, NC_000016.9:g.30212101G>T, 553050853, NC_000016.9:g.30212101= +PA166177789 rs553202 PA31945 OPRM1 NC_000006.12:154043682 2 2 0 0 0 553202, NG_021208.2:g.38182C>T, rs553202, NC_000006.11:g.154364817C>T, NC_000006.12:g.154043682C>T, NG_021208.2:g.38182=, NC_000006.12:g.154043682=, NC_000006.11:g.154364817= +PA166179993 rs553668 PA35 ADRA2A NC_000010.11:111079821 7 0 0 0 0 rs553668, 3750624, NC_000010.11:g.111079821A>T, NG_012020.1:g.7790A>G, 74236103, NG_012020.1:g.7790=, NC_000010.10:g.112839579A>G, NC_000010.11:g.111079821=, NC_000010.10:g.112839579=, 58483008, NC_000010.11:g.111079821A>G, 553668, NC_000010.10:g.112839579A>T, NG_012020.1:g.7790A>T +PA166176308 rs554344 PA26089 CASP5 NC_000011.10:105024470 1 0 0 0 0 NC_000011.9:g.104895197G>C, NC_000011.9:g.104895197=, NG_029124.1:g.15661C>G, NG_029124.2:g.15661C>G, rs554344, 55907003, NC_000011.10:g.105024470=, 60372086, NG_029124.1:g.15661=, 554344, NG_029124.2:g.15661=, NC_000011.10:g.105024470G>C +PA166185483 rs555018 PA26491 CHRNA5 NC_000015.10:78586900 2 0 0 0 0 NG_023328.1:g.26381=, NG_023328.1:g.26381G>A, rs555018, NC_000015.9:g.78879242=, 555018, 61239656, NG_023328.1:g.26381G>C, NC_000015.9:g.78879242G>C, NC_000015.10:g.78586900=, NC_000015.10:g.78586900G>C, NC_000015.10:g.78586900G>A, NC_000015.9:g.78879242G>A +PA166154277 rs555653 PA266 PGR NC_000011.10:101098814 1 0 0 0 0 XR_947831.1:n.3362-6938T>C, NC_000011.9:g.100969545A>G, NM_001202474.3:c.1298-6938T>C, NG_016475.1:g.36000T>C, rs555653, rs17730503, NC_000011.10:g.101098814A>G, rs57032290, 555653, NM_001271162.1:c.8-6938T>C, XM_006718858.2:c.1790-6938T>C, NC_000011.10:g.101098814=, NR_073143.2:n.1783-6938T>C, NC_000011.9:g.100969545=, 17730503, NG_016475.1:g.36000=, NM_000926.4:c.1790-6938T>C, NR_073142.2:n.1782+27193T>C, NM_001271161.2:c.1298-6938T>C, NR_073141.2:n.1783-6938T>C, 57032290 +PA166156927 rs555754 PA330 SLC22A3 NC_000006.12:160348391 1 0 0 0 0 NC_000006.11:g.160769423=, NM_021977.3:c.-29G>A, XM_005267106.3:c.-632G>A, XM_011536076.1:c.-822G>A, rs555754, XM_005267106.1:c.-632G>A, XM_005267107.1:c.-29G>A, NC_000006.12:g.160348391=, 59524642, XM_005267107.2:c.-29G>A, XR_245546.1:n.14G>A, NC_000006.11:g.160769423G>A, NC_000006.12:g.160348391G>A, 555754, NC_000006.12:g.160348391G>C, XM_011536077.1:c.-1686G>A, NC_000006.11:g.160769423G>C, XM_011536078.1:c.-29G>A, rs59524642 +PA166178416 rs55633228 PA134877725 MAST3 NC_000019.10:18134954 1 1 0 0 0 NC_000019.9:g.18245764C>T, NC_000019.10:g.18134954=, rs55633228, NC_000019.9:g.18245764=, 55633228, NP_055831.1:p.Pro585=, NC_000019.10:g.18134954C>T +PA166157205 rs55634887 PA435 TNF NC_000006.12:31575106 1 0 0 0 0 NT_167247.2:g.2917004G>A, NG_012010.1:g.8008=, NG_012010.1:g.8008G>A, rs55634887, NT_167245.2:g.2822839G>A, NT_113891.2:g.3052499G>A, NC_000006.12:g.31575106G>A, NT_167246.2:g.2880147G>A, NG_007462.1:g.4534G>A, NT_167246.1:g.2885767G>A, NC_000006.12:g.31575106=, NG_007462.1:g.4534=, NM_000594.3:c.-636G>A, NC_000006.11:g.31542883=, NC_000006.11:g.31542883G>A, NT_167245.1:g.2828424G>A, NT_167249.2:g.2874386G>A, NT_167248.2:g.2830925G>A, NT_167248.1:g.2836521G>A, 55634887, NT_167247.1:g.2922589G>A, NT_167249.1:g.2873684G>A, NT_113891.3:g.3052393G>A +PA166154970 rs5564 PA310 SLC6A2 NC_000016.10:55692063 1 0 0 0 0 XM_011523295.1:c.918+11A>G, 13306043, XR_933403.1:n.1535+11A>G, 5564, NG_016969.1:g.41434A>T, NM_001172504.1:c.918+11A>G, NC_000016.10:g.55692063=, XM_011523297.1:c.784-1947A>G, rs13306043, NG_016969.1:g.41434A>G, NM_001172502.1:c.603+11A>G, NC_000016.9:g.55725975A>T, XM_011523296.1:c.784-1947A>G, XM_006721263.2:c.918+11A>G, XM_011523300.1:c.195+11A>G, NM_001172501.1:c.918+11A>G, NC_000016.10:g.55692063A>G, NM_001043.3:c.918+11A>G, rs5564, NG_016969.1:g.41434=, NC_000016.9:g.55725975A>G, XM_011523298.1:c.918+11A>G, XM_011523299.1:c.195+11A>G, NC_000016.10:g.55692063A>T, NC_000016.9:g.55725975= +PA166154180 rs55640102 PA124 CYP2C19 NC_000010.11:94852914 1 0 0 0 0 NC_000010.10:g.96612671A>C, 55640102, NG_008384.3:g.95234A>C, NG_008384.2:g.95209A>C, NG_008384.3:g.95234=, NP_000760.1:p.Ter491=, NM_000769.2:c.1473A>C, NC_000010.11:g.94852914=, NC_000010.11:g.94852914A>T, rs55640102, NG_008384.3:g.95234A>T, NM_000769.1:c.1473A>C, NP_000760.1:p.Ter491Cys, NC_000010.10:g.96612671A>T, NC_000010.10:g.96612671=, NC_000010.11:g.94852914A>C +PA166198781 rs55663133 PA29816 IL1RN NC_000002.12:113113582 1 0 0 0 0 55663133, NC_000002.12:g.113113582_113113596=, NC_000002.11:g.113871159_113871173=, NG_021240.1:g.690_692AAT[4], 142101313, NG_021240.1:g.690_692AAT[6], NC_000002.12:g.113113582_113113584AAT[4], NC_000002.12:g.113113582_113113584AAT[6], NC_000002.11:g.113871159_113871161AAT[6], NG_021240.1:g.690_704=, NC_000002.11:g.113871159_113871161AAT[4], rs55663133 +PA166153886 rs55674432 PA145 DPYD NC_000001.11:97098616 1 0 0 1 0 XP_005270619.1:p.Gly808Val, XP_005270619.2:p.Gly808Val, NG_008807.2:g.827444=, NG_008807.2:g.827444G>T, XM_005270561.1:c.2528G>T, NP_000101.2:p.Gly880=, NC_000001.11:g.97098616=, NR_046590.1:n.64+2630C>A, 55674432, NC_000001.10:g.97564172=, XP_005270618.1:p.Gly843Val, NM_000110.3:c.2639G>T, NP_000101.2:p.Gly880Val, XM_005270562.3:c.2423G>T, NC_000001.10:g.97564172C>A, XM_005270562.1:c.2423G>T, rs55674432, NC_000001.11:g.97098616C>A +PA166154971 rs5568 PA310 SLC6A2 NC_000016.10:55696212 1 0 0 0 0 XR_933403.1:n.1765-13A>C, NC_000016.9:g.55730124=, NM_001172502.1:c.833-13A>C, rs17308668, XM_011523297.1:c.1013-13A>C, rs1122349, XM_011523300.1:c.425-13A>C, 17308668, rs5568, NM_001043.3:c.1148-13A>C, 1122349, NC_000016.9:g.55730124A>G, NG_016969.1:g.45583A>C, NC_000016.9:g.55730124A>C, XM_011523299.1:c.425-13A>C, NG_016969.1:g.45583A>G, XM_011523295.1:c.1148-13A>C, NM_001172501.1:c.1148-13A>C, XM_006721263.2:c.1148-13A>C, NG_016969.1:g.45583=, 57905851, rs57905851, XM_011523298.1:c.1147+810A>C, XM_011523296.1:c.1013-13A>C, 5568, NC_000016.10:g.55696212A>G, NC_000016.10:g.55696212=, NC_000016.10:g.55696212A>C, NM_001172504.1:c.1148-13A>C +PA166170203 rs55684412 PA145 DPYD NC_000001.11:97720673 1 0 0 0 0 NC_000001.10:g.98186229=, NG_008807.2:g.205387A>G, NC_000001.10:g.98186229T>C, 61786600, 55684412, NC_000001.11:g.97720673T>C, NG_008807.2:g.205387=, rs55684412, NC_000001.11:g.97720673= +PA166154972 rs5569 PA310 SLC6A2 NC_000016.10:55697923 14 1 0 0 0 NM_001172504.1:c.1287G>A, NP_001165973.1:p.Thr324=, NM_001043.3:c.1287G>A, NP_001165972.1:p.Thr429=, XP_011521600.1:p.Gly392Arg, XR_933403.1:n.1904G>A, rs17308809, 386599040, XM_011523298.1:c.1174G>A, NC_000016.9:g.55731835G>C, rs5569, XP_011521598.1:p.Thr384=, rs998425, XP_011521599.1:p.Thr384=, NP_001165975.1:p.Thr429=, rs59357911, XM_011523296.1:c.1152G>A, 17308809, 998425, NC_000016.10:g.55697923G>C, NC_000016.10:g.55697923G>A, XP_006721326.1:p.Thr429=, XM_011523300.1:c.564G>A, NC_000016.10:g.55697923=, 59357911, XM_011523299.1:c.564G>A, NG_016969.1:g.47294=, XM_011523297.1:c.1152G>A, XP_011521601.1:p.Thr188=, NM_001172502.1:c.972G>A, XP_011521602.1:p.Thr188=, NC_000016.9:g.55731835G>A, NC_000016.9:g.55731835=, NG_016969.1:g.47294G>A, XM_011523295.1:c.1287G>A, 5569, NG_016969.1:g.47294G>C, XM_006721263.2:c.1287G>A, XP_011521597.1:p.Thr429=, NP_001034.1:p.Thr429=, NM_001172501.1:c.1287G>A, rs386599040 +PA166198783 rs55709272 PA29816 IL1RN NC_000002.12:113109711 1 0 0 0 0 62158850, NC_000002.12:g.113109711=, NC_000002.11:g.113867288T>C, NC_000002.12:g.113109711T>C, rs55709272, NC_000002.11:g.113867288=, NC_000002.12:g.113109711T>A, NC_000002.11:g.113867288T>A, 55709272 +PA166154650 rs55737008 PA134865839 SLCO1B1 NC_000012.12:21239113 1 1 1 0 0 NC_000012.12:g.21239113=, rs55737008, NM_006446.4:c.2000A>G, 55737008, NP_006437.3:p.Glu667Gly, NG_011745.1:g.112920=, NC_000012.11:g.21392047=, NG_011745.1:g.112920A>G, NC_000012.12:g.21239113A>G, NC_000012.11:g.21392047A>G, NP_006437.3:p.Glu667= +PA166154181 rs55752064 PA124 CYP2C19 NC_000010.11:94762755 9 2 2 0 0 NC_000010.11:g.94762755=, NP_000760.1:p.Leu17Pro, NG_008384.3:g.5075T>A, NP_000760.1:p.Leu17His, NG_055436.1:g.2115=, NM_000769.1:c.50T>C, NG_055436.1:g.2115T>A, rs55752064, NG_055436.1:g.2115T>C, NP_000760.1:p.Leu17=, NG_008384.3:g.5075=, NM_000769.2:c.50T>C, NC_000010.10:g.96522512T>C, NG_008384.2:g.5050T>C, NC_000010.10:g.96522512T>A, NC_000010.11:g.94762755T>A, NC_000010.10:g.96522512=, NG_008384.3:g.5075T>C, NC_000010.11:g.94762755T>C, 55752064 +PA166155879 rs55754655 PA24842 AOX1 NC_000002.12:200661607 3 1 0 0 0 NC_000002.12:g.200661607A>G, rs60972007, 55754655, NP_001150.3:p.Asn1135=, NC_000002.11:g.201526330=, XM_005246506.1:c.2072A>G, XP_011509364.1:p.Asn1135Ser, 60972007, NM_001159.3:c.3404A>G, rs61737010, XP_005246563.1:p.Asn691Ser, NC_000002.12:g.200661607=, NP_001150.3:p.Asn1135Ser, rs55754655, XM_011511062.1:c.3404A>G, XR_922913.1:n.3561A>G, 61737010, NC_000002.11:g.201526330A>G +PA166175853 rs55781567 PA26491 CHRNA5 NC_000015.10:78565644 2 1 0 0 0 rs55781567, NC_000015.10:g.78565644C>G, NC_000015.10:g.78565644=, NC_000015.9:g.78857986C>G, NG_023328.1:g.5125C>G, 55781567, NG_023328.1:g.5125=, NC_000015.9:g.78857986= +PA166157491 rs55785340 PA130 CYP3A4 NC_000007.14:99768360 13 1 1 0 0 XP_011514144.1:p.Ser222Pro, NP_059488.2:p.Ser222Thr, NC_000007.14:g.99768360A>G, XM_011515841.1:c.664T>C, NG_008421.1:g.20826=, NM_001202855.2:c.664T>C, NC_000007.13:g.99365983=, XP_011514143.1:p.Ser222Pro, 55785340, NC_000007.13:g.99365983A>G, NC_000007.14:g.99768360A>T, NP_059488.2:p.Ser222=, NP_059488.2:p.Ser222Pro, NG_008421.1:g.20826T>A, XM_011515842.1:c.664T>C, NM_017460.5:c.664T>C, NG_008421.1:g.20826T>C, NC_000007.14:g.99768360=, NC_000007.13:g.99365983A>T, rs55785340, NP_001189784.1:p.Ser222Pro +PA166154498 rs557881 PA35908 SLC6A12 NC_000012.12:209959 1 1 0 0 0 NP_001116319.1:p.Cys10Arg, rs117938796, rs60807272, XM_005253745.1:c.28T>C, XM_011521011.1:c.28T>C, XP_005253804.1:p.Cys10Arg, XM_005253747.1:c.28T>C, XP_005253805.1:p.Cys10Arg, 557881, 60807272, rs557881, XP_006719068.1:p.Cys10Arg, NP_003035.3:p.Cys10=, NM_001122848.2:c.28T>C, XM_005253747.3:c.28T>C, 117938796, NP_003035.3:p.Cys10Arg, XM_005253744.1:c.28T>C, XM_011521010.1:c.28T>C, NM_001122847.2:c.28T>C, XM_005253746.1:c.28T>C, NC_000012.12:g.209959=, NP_001116320.1:p.Cys10Arg, XM_006719005.2:c.28T>C, XP_011519312.1:p.Cys10Arg, XM_005253748.1:c.28T>C, XP_011519313.1:p.Cys10Arg, NP_001193860.1:p.Cys10Arg, NM_003044.4:c.28T>C, XM_005253748.3:c.28T>C, NC_000012.12:g.209959A>G, NM_001206931.1:c.28T>C, XP_005253802.1:p.Cys10Arg, XP_005253803.1:p.Cys10Arg, NC_000012.11:g.319125=, NC_000012.11:g.319125A>G, XP_005253801.1:p.Cys10Arg +PA166154278 rs557905 PA26083 CASP1 NC_000011.10:105027116 1 0 0 0 0 NG_029124.1:g.13015=, XM_011543017.1:c.1139-165A>G, XM_011543018.1:c.1076-165A>G, NM_033293.3:c.728-165A>G, NM_001257118.2:c.1007-165A>G, rs57025585, 57025585, NM_001223.4:c.944-165A>G, NG_029124.1:g.13015A>G, rs386599073, rs557905, NM_033292.3:c.1007-165A>G, NM_033294.3:c.584-165A>G, NC_000011.10:g.105027116T>C, NC_000011.10:g.105027116=, NM_001257119.2:c.944-165A>G, 386599073, NC_000011.9:g.104897843T>C, 557905, NG_029124.2:g.13015A>G, NM_033295.3:c.59-165A>G, rs17447000, NG_029124.2:g.13015=, XM_006718924.2:c.1139-165A>G, NC_000011.9:g.104897843=, 17447000 +PA166156928 rs558025 PA31945 OPRM1 NC_000006.12:154120830 2 1 0 0 0 NC_000006.11:g.154441965A>G, rs61090595, NM_001285526.1:c.*2109A>G, XM_011535849.1:c.*293-191A>G, NM_001145280.3:c.*2109A>G, NC_000006.12:g.154120830=, NR_104348.1:n.3555A>G, XM_011535861.1:c.*2109A>G, NM_001145279.3:c.*2109A>G, XM_011535860.1:c.*2109A>G, XM_011535859.1:c.*2109A>G, 61090595, NG_021208.2:g.115330=, NM_001285522.1:c.*2144A>G, rs17276643, rs17181380, NM_001008503.2:c.1164+29358A>G, NR_104350.1:n.3093A>G, 17276643, NM_001145287.2:c.*2109A>G, NM_000914.4:c.*2109A>G, 558025, rs558025, NG_021208.1:g.115330A>G, NC_000006.12:g.154120830A>G, NC_000006.11:g.154441965=, NG_021208.2:g.115330A>G, NM_001285524.1:c.*2109A>G, NM_001145281.2:c.*2109A>G, 17181380 +PA166153887 rs55802895 PA391 NR1I3 NC_000001.11:161242953 1 0 0 0 0 NC_000001.10:g.161212743C>T, NC_000001.11:g.161242953C>T, NG_029113.1:g.258=, NG_029113.1:g.258G>A, 55802895, NC_000001.11:g.161242953=, NC_000001.10:g.161212743=, rs55802895 +PA166157492 rs55817950 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99676198 2 0 0 0 0 rs55817950, XR_927383.1:n.207C>T, XM_005250172.1:c.-408C>T, NM_001190484.2:c.82C>T, NC_000007.14:g.99676198G>A, NP_001177413.1:p.Arg28Cys, NP_001278759.1:p.Arg18Cys, XR_927402.1:n.1467-47277G>A, NC_000007.13:g.99273821G>A, XM_005250170.1:c.-494C>T, NC_000007.13:g.99273821=, XM_011515843.1:c.-408C>T, XM_005250171.1:c.-390C>T, XP_005250226.1:p.Arg18Cys, NG_007938.2:g.8801C>T, XM_005250169.1:c.52C>T, XM_011515845.1:c.-600C>T, NM_001291830.1:c.52C>T, NR_033808.1:n.552C>T, NG_007938.2:g.8801=, XM_011515847.1:c.-708C>T, NC_000007.14:g.99676198=, XM_011515846.1:c.-468C>T, NP_000768.1:p.Arg28=, NR_033807.2:n.580C>T, NM_000777.4:c.82C>T, NP_000768.1:p.Arg28Cys, NG_007938.1:g.8801=, NR_033809.1:n.444C>T, NR_033811.1:n.184C>T, 55817950, XM_005250173.1:c.-468C>T, XM_005250198.1:c.806-1006G>A, NG_007938.1:g.8801C>T, XM_011515844.1:c.-366C>T, NR_033810.1:n.552C>T, XM_006715859.2:c.82C>T, NM_001291829.1:c.-390C>T, NR_033812.1:n.184C>T, XP_006715922.1:p.Arg28Cys +PA166319622 rs558354142 PA145 DPYD NC_000001.11:97515748 1 1 0 0 0 NG_008807.2:g.410312C>A, NC_000001.11:g.97515748G>T, 558354142, NC_000001.10:g.97981304G>T, NG_008807.2:g.410312=, NG_008807.2:g.410312C>G, rs558354142, NC_000001.11:g.97515748G>C, NC_000001.10:g.97981304=, NP_000101.2:p.Thr573Asn, NC_000001.11:g.97515748G>A, NP_000101.2:p.Thr573=, NP_000101.2:p.Thr573Ile, NC_000001.10:g.97981304G>C, NP_000101.2:p.Thr573Ser, NC_000001.10:g.97981304G>A, NG_008807.2:g.410312C>T, NC_000001.11:g.97515748= +PA166281342 rs558364281 PA28971 GRID2 NC_000004.12:93021181 1 0 0 0 0 rs558364281, NC_000004.12:g.93021181A>G, NC_000004.12:g.93021181=, NC_000004.11:g.93942332=, NG_034113.1:g.721783=, NG_034113.1:g.721783A>G, 558364281, NC_000004.11:g.93942332A>G +PA166175852 rs55853698 PA26491 CHRNA5 NC_000015.10:78565597 2 0 0 0 0 NC_000015.9:g.78857939T>G, NG_023328.1:g.5078=, NC_000015.10:g.78565597=, 55853698, NC_000015.9:g.78857939=, NG_023328.1:g.5078T>G, rs55853698, NC_000015.10:g.78565597T>G +PA166180907 rs558614 PA30302 LATS2 NC_000013.11:20988809 1 0 0 0 0 NP_055387.2:p.Ala324Val, NC_000013.10:g.21562948G>T, NC_000013.11:g.20988809=, NC_000013.11:g.20988809G>T, rs558614, 57107378, NC_000013.10:g.21562948G>A, NP_055387.2:p.Ala324Glu, 558614, 3742219, NC_000013.11:g.20988809G>A, NC_000013.10:g.21562948=, NP_055387.2:p.Ala324= +PA166177123 rs55881666 NC_000004.12:129255325 1 1 0 0 0 rs55881666, NC_000004.12:g.129255325=, 55881666, NC_000004.12:g.129255325C>T, NC_000004.11:g.130176480C>T, NC_000004.11:g.130176480=, 60092906 +PA166153888 rs55886062 PA145 DPYD NC_000001.11:97515787 32 4 1 3 0 XM_005270564.1:c.1679T>G, NP_000101.2:p.Ile560=, XM_005270563.1:c.1679T>G, XP_005270620.1:p.Ile560Ser, NC_000001.11:g.97515787A>T, NC_000001.10:g.97981343=, NP_000101.2:p.Ile560Asn, 55886062, XM_005270562.1:c.1524+33773T>G, NC_000001.11:g.97515787A>C, NC_000001.10:g.97981343A>C, XM_006710397.2:c.1679T>G, 199469542, XP_005270621.1:p.Ile560Ser, DPYD*13, NC_000001.11:g.97515787=, NG_008807.2:g.410273T>G, rs199469542, NP_000101.2:p.Ile560Ser, rs55886062, NM_000110.3:c.1679T>G, NC_000001.10:g.97981343A>T, XP_006710460.1:p.Ile560Ser, XM_005270562.3:c.1524+33773T>G, NG_008807.2:g.410273=, NG_008807.2:g.410273T>A, XP_005270618.1:p.Ile523Ser, XM_005270561.1:c.1568T>G +PA166155131 rs55894764 PA133787052 VKORC1 NC_000016.10:31094694 1 1 0 0 0 NM_024006.5:c.36G>A, NG_011564.1:g.5262G>A, NC_000016.10:g.31094694=, XP_011544247.1:p.Arg12=, NM_001311311.1:c.36G>A, NC_000016.10:g.31094694C>A, XR_950848.1:n.824G>A, NP_076869.1:p.Arg12=, XP_011544246.1:p.Arg12=, XR_243303.1:n.685G>A, NM_206824.2:c.36G>A, NG_011564.1:g.5262=, XM_011545944.1:c.36G>A, XP_005255625.1:p.Arg12=, XM_005255568.1:c.36G>A, rs55894764, XM_011545943.1:c.36G>A, NC_000016.9:g.31106015=, NC_000016.9:g.31106015C>T, NP_996560.1:p.Arg12=, XP_011544245.1:p.Arg12=, 55894764, NC_000016.9:g.31106015C>A, NC_000016.10:g.31094694C>T, NP_001298240.1:p.Arg12=, NG_011564.1:g.5262G>T, XM_011545945.1:c.36G>A +PA166180113 rs558948 PA31945 OPRM1 NC_000006.12:154120729 2 0 0 0 0 NC_000006.12:g.154120729=, 57086308, NG_021208.2:g.115229=, NC_000006.11:g.154441864=, NC_000006.11:g.154441864C>G, NG_021208.2:g.115229C>G, 17276615, NC_000006.12:g.154120729C>T, rs558948, 17181373, 558948, NG_021208.2:g.115229C>T, NC_000006.11:g.154441864C>T, NC_000006.12:g.154120729C>G +PA166154651 rs55901008 PA134865839 SLCO1B1 NC_000012.12:21200595 1 0 0 0 0 rs55901008, NG_011745.1:g.74402=, NC_000012.11:g.21353529T>A, NC_000012.12:g.21200595=, NG_011745.1:g.74402T>A, NG_011745.1:g.74402T>C, NM_006446.4:c.1058T>C, NC_000012.11:g.21353529=, 55901008, NC_000012.11:g.21353529T>C, NC_000012.12:g.21200595T>C, NC_000012.12:g.21200595T>A, NP_006437.3:p.Ile353Asn, NP_006437.3:p.Ile353=, NP_006437.3:p.Ile353Thr +PA166157493 rs55901263 PA130 CYP3A4 NC_000007.14:99768371 13 1 1 0 0 XP_011514143.1:p.Pro218Arg, NG_008421.1:g.20815=, NC_000007.13:g.99365994=, NP_059488.2:p.Pro218Arg, XM_011515841.1:c.653C>G, rs55901263, NP_059488.2:p.Pro218=, NP_001189784.1:p.Pro218Arg, NM_001202855.2:c.653C>G, NC_000007.13:g.99365994G>C, XM_011515842.1:c.653C>G, NC_000007.14:g.99768371G>C, NG_008421.1:g.20815C>G, XP_011514144.1:p.Pro218Arg, NM_017460.5:c.653C>G, 55901263, NC_000007.14:g.99768371= +PA166157206 rs55918055 PA329 SLC22A1 NC_000006.12:160122197 9 0 0 0 0 XP_005267159.1:p.Cys88Arg, XM_005267105.3:c.-404T>C, XM_006715552.1:c.262T>C, XM_011536074.1:c.-814T>C, XM_005267102.3:c.262T>C, XM_005267103.1:c.262T>C, XP_005267160.1:p.Cys88Arg, 55918055, NC_000006.12:g.160122197=, NM_003057.2:c.262T>C, XM_005267105.1:c.-404T>C, NM_153187.1:c.262T>C, NC_000006.11:g.160543229T>C, XM_005267102.1:c.262T>C, NC_000006.12:g.160122197T>A, NP_003048.1:p.Cys88=, NC_000006.12:g.160122197T>C, NP_694857.1:p.Cys88Arg, NP_003048.1:p.Cys88Arg, NC_000006.11:g.160543229T>A, rs55918055, XP_006715615.1:p.Cys88Arg, NC_000006.11:g.160543229=, NP_003048.1:p.Cys88Ser +PA166263684 rs55944529 PA27139 DAO NC_000012.12:108898654 3 3 0 0 0 rs55944529, 55944529, NC_000012.11:g.109292430C>T, NG_023236.1:g.23574C>T, NC_000012.11:g.109292430=, NC_000012.12:g.108898654=, NC_000012.12:g.108898654C>T, NG_023236.1:g.23574= +PA166154183 rs55948420 PA124 CYP2C19 NC_000010.11:94849947 3 0 0 0 0 rs55948420, NP_000760.1:p.Val394Met, NG_008384.3:g.92267=, NG_008384.2:g.92242G>A, NC_000010.10:g.96609704G>A, NC_000010.11:g.94849947=, NG_008384.3:g.92267G>A, NP_000760.1:p.Val394=, NM_000769.2:c.1180G>A, 55948420, NC_000010.10:g.96609704=, NM_000769.1:c.1180G>A, NC_000010.11:g.94849947G>A +PA166157494 rs55951658 PA130 CYP3A4 NC_000007.14:99770202 11 2 2 0 0 NC_000007.14:g.99770202=, NP_059488.2:p.Ile118Phe, NC_000007.13:g.99367825T>C, NG_008421.1:g.18984A>G, NM_017460.5:c.352A>G, rs55951658, NP_001189784.1:p.Ile118Val, 55951658, NC_000007.14:g.99770202T>A, XP_011514144.1:p.Ile118Val, NC_000007.14:g.99770202T>C, NM_001202855.2:c.352A>G, XM_011515841.1:c.352A>G, XP_011514143.1:p.Ile118Val, NP_059488.2:p.Ile118=, NP_059488.2:p.Ile118Val, NC_000007.13:g.99367825=, NG_008421.1:g.18984=, XM_011515842.1:c.352A>G, NG_008421.1:g.18984A>T, NC_000007.13:g.99367825T>A +PA166181745 rs559628884 PA124 CYP2C19 NC_000010.11:94820507 3 0 0 0 0 NC_000010.10:g.96580264C>A, NC_000010.10:g.96580264C>G, NG_008384.3:g.62827C>A, NG_008384.3:g.62827C>G, NC_000010.11:g.94820507C>G, NC_000010.11:g.94820507C>A, rs559628884, NP_000760.1:p.Asn277Lys, NC_000010.11:g.94820507=, NP_000760.1:p.Asn277=, 559628884, NG_008384.3:g.62827=, NC_000010.10:g.96580264= +PA166159789 rs55971861 PA145 DPYD NC_000001.11:97382461 1 0 0 1 0 NC_000001.10:g.97848017=, NC_000001.10:g.97848017T>G, NP_000101.2:p.Ile636Leu, NC_000001.11:g.97382461=, NG_008807.2:g.543599A>C, 55971861, NG_008807.2:g.543599=, NP_000101.2:p.Ile636=, rs55971861, NC_000001.11:g.97382461T>G +PA166157207 rs55994001 PA435 TNF NC_000006.12:31575105 1 0 0 0 0 NT_167248.2:g.2830924C>T, NT_167245.1:g.2828423C>T, NM_000594.3:c.-637C>T, NT_167248.1:g.2836520C>T, NT_167249.2:g.2874385C>T, rs55994001, NG_007462.1:g.4533C>A, NC_000006.12:g.31575105=, NG_007462.1:g.4533C>T, NT_167246.2:g.2880146C>T, NG_012010.1:g.8007C>A, NC_000006.11:g.31542882C>T, NG_012010.1:g.8007=, NT_113891.3:g.3052392C>T, NT_167249.1:g.2873683C>T, NC_000006.12:g.31575105C>A, NT_167247.1:g.2922588C>T, NG_007462.1:g.4533=, NC_000006.11:g.31542882=, NT_167247.2:g.2917003C>T, NG_012010.1:g.8007C>T, 55994001, NT_167245.2:g.2822838C>T, NT_113891.2:g.3052498C>T, NT_167246.1:g.2885766C>T, NC_000006.12:g.31575105C>T, NC_000006.11:g.31542882C>A +PA166153576 rs560018 PA29026 GSTM4 NC_000001.11:109657738 1 0 0 0 0 58086519, XM_011541297.1:c.260-34T>C, 17531990, 560018, NM_000850.4:c.260-34T>C, XM_011541298.1:c.-53-34T>C, 1800657, NC_000001.10:g.110200360=, NC_000001.11:g.109657738T>C, NR_024538.1:n.492-34T>C, rs1800657, NC_000001.10:g.110200360T>C, NM_147148.2:c.260-34T>C, rs58086519, rs560018, rs17531990, NC_000001.11:g.109657738= +PA166179517 rs56005131 PA145 DPYD NC_000001.11:97234991 1 1 0 1 0 NC_000001.10:g.97700547=, NC_000001.10:g.97700547G>T, NC_000001.11:g.97234991G>T, NG_008807.2:g.691069C>A, NP_000101.2:p.Thr768Lys, NC_000001.11:g.97234991=, rs56005131, NG_008807.2:g.691069=, NP_000101.2:p.Thr768=, 56005131 +PA166157661 rs56011192 PA18 NAT2 NC_000008.11:18400762 1 0 0 0 0 NG_012246.1:g.14518=, NM_000015.2:c.759C>T, NP_000006.2:p.Val253=, XM_011544358.1:c.759C>T, NG_012246.1:g.14518C>T, NC_000008.11:g.18400762=, XP_011542660.1:p.Val253=, NC_000008.10:g.18258272=, 56011192, NC_000008.10:g.18258272C>T, rs56011192, NC_000008.11:g.18400762C>T +PA166178398 rs56022120 PA134877725 MAST3 NC_000019.10:18123979 1 1 0 0 0 rs56022120, NC_000019.10:g.18123979=, NC_000019.10:g.18123979C>T, NP_055831.1:p.Thr196=, NP_055831.1:p.Thr196Met, NC_000019.9:g.18234789=, NC_000019.9:g.18234789C>T, 56022120 +PA166157208 rs56027330 PA35822 SLC17A3 NC_000006.12:25850617 1 0 0 0 0 NC_000006.12:g.25850617C>T, NM_006632.3:c.601G>A, rs61745238, NC_000006.11:g.25850845=, NC_000006.11:g.25850845C>T, NP_006623.2:p.Gly201Arg, 56027330, XP_005248876.1:p.Gly70Arg, NC_000006.12:g.25850617=, NG_032922.1:g.28627=, NP_006623.2:p.Gly201=, rs56027330, NM_001098486.1:c.835G>A, XM_005248819.1:c.208G>A, 61745238, NP_001091956.1:p.Gly279Arg, NG_032922.1:g.28627G>A +PA166153889 rs56038477 PA145 DPYD NC_000001.11:97573863 25 2 0 2 0 56038477, 199469533, NG_008807.2:g.352197=, XP_005270619.2:p.Glu412=, XP_006710460.1:p.Glu412=, NM_000110.3:c.1236G>A, rs199469533, NC_000001.10:g.98039419C>T, NC_000001.10:g.98039419=, XP_005270618.1:p.Glu375=, XP_005270619.1:p.Glu412=, NC_000001.11:g.97573863C>T, XM_006710397.2:c.1236G>A, NC_000001.11:g.97573863=, rs61730901, XM_005270563.1:c.1236G>A, XM_005270562.1:c.1236G>A, XM_005270562.3:c.1236G>A, NP_000101.2:p.Glu412=, XM_005270564.1:c.1236G>A, NG_008807.2:g.352197G>A, 61730901, rs56038477, XP_005270620.1:p.Glu412=, XM_005270561.1:c.1125G>A, XP_005270621.1:p.Glu412= +PA166157844 rs56040400 PA25911 C5 NC_000009.12:120997683 1 1 0 0 0 XM_011518980.1:c.2669G>A, NP_001304092.1:p.Arg891His, 56040400, NC_000009.12:g.120997683C>T, XP_011517282.1:p.Arg890His, NC_000009.12:g.120997683=, NC_000009.11:g.123759961C>T, XM_011518981.1:c.2672G>A, NC_000009.11:g.123759961=, NG_007364.1:g.57594=, XP_011517283.1:p.Arg891His, NM_001735.2:c.2654G>A, NP_001726.2:p.Arg885=, rs56040400, NG_007364.1:g.57594G>A, NP_001726.2:p.Arg885His, NM_001317163.1:c.2672G>A +PA166223063 rs56044629 PA166048977 RBFOX3 NC_000017.11:79113571 1 0 0 0 0 NC_000017.11:g.79113571G>A, rs56044629, 56044629, NC_000017.11:g.79113571=, NC_000017.11:g.79113571G>T, NC_000017.10:g.77109653G>A, NC_000017.10:g.77109653G>T, NG_053112.1:g.502633C>A, NC_000017.10:g.77109653=, NG_053112.1:g.502633C>T, NG_053112.1:g.502633= +PA166154652 rs56061388 PA134865839 SLCO1B1 NC_000012.12:21174595 2 1 1 0 0 NG_011745.1:g.48402=, NC_000012.12:g.21174595=, NG_011745.1:g.48402T>C, NP_006437.3:p.Val82=, rs56061388, NC_000012.11:g.21327529T>C, NM_006446.4:c.245T>C, NC_000012.11:g.21327529=, NC_000012.12:g.21174595T>C, 56061388, NP_006437.3:p.Val82Ala +PA166156687 rs56061981 PA25016,PA35568 ART3,CXCL10 NC_000004.12:76023632 1 1 0 0 0 rs56061981, NC_000004.12:g.76023632=, NC_000004.12:g.76023632C>T, NC_000004.11:g.76944785=, NC_000004.11:g.76944785C>T, NM_001565.3:c.-201G>A, NM_001130017.2:c.-10+12312C>T, 56061981 +PA166305621 rs560765906 PA88 CACNB2 NC_000010.11:18148096 1 0 0 0 0 rs560765906, NC_000010.11:g.18148096A>G, NC_000010.11:g.18148096=, NG_016195.1:g.12420A>T, NG_016195.1:g.12420=, NC_000010.11:g.18148096A>T, 560765906, NC_000010.10:g.18437025A>G, NC_000010.10:g.18437025=, NG_016195.1:g.12420A>G, NC_000010.10:g.18437025A>T +PA166154653 rs56101265 PA134865839 SLCO1B1 NC_000012.12:21172782 2 1 1 0 0 NP_006437.3:p.Phe73Leu, NC_000012.11:g.21325716=, NM_006446.4:c.217T>C, NG_011745.1:g.46589T>C, 56101265, rs56101265, NG_011745.1:g.46589=, NC_000012.12:g.21172782T>C, NC_000012.11:g.21325716T>C, NC_000012.12:g.21172782=, NP_006437.3:p.Phe73= +PA166154832 rs56103835 PA165479179 MIR323B NC_000014.9:101056219 1 0 0 0 0 NC_000014.9:g.101056219T>C, rs56103835, NC_000014.8:g.101522556T>C, NC_000014.9:g.101056219T>A, NC_000014.8:g.101522556=, NC_000014.8:g.101522556T>A, NC_000014.9:g.101056219=, NR_036133.1:n.1T>C, 56103835 +PA166154950 rs56107638 PA27093 CYP1A2 NC_000015.10:74753271 1 0 0 0 0 NC_000015.9:g.75045612=, NC_000015.9:g.75045612G>C, NG_008431.1:g.35730G>A, NC_000015.10:g.74753271=, NG_061543.1:g.9427G>C, rs57702151, NG_008431.2:g.35730=, 56107638, NG_061543.1:g.9427G>A, NG_008431.2:g.35730G>C, NG_008431.2:g.35730G>A, NM_000761.3:c.1253+1G>A, NC_000015.10:g.74753271G>A, rs56107638, NC_000015.10:g.74753271G>C, NM_000761.4:c.1253+1G>A, 57702151, NG_061543.1:g.9427=, NC_000015.9:g.75045612G>A +PA166155506 rs56113850 PA121 CYP2A6 NC_000019.10:40847202 4 1 0 0 0 NC_000019.9:g.41353107=, NG_008377.1:g.8246A>G, NC_000019.10:g.40847202=, NC_000019.9:g.41353107T>C, NC_000019.10:g.40847202T>C, XM_005258568.1:c.502-151A>G, 60845437, NM_000762.5:c.655-151A>G, 56113850, NG_008377.1:g.8246=, rs56113850, rs60845437 +PA166267642 rs56156262 NC_000019.10:41052973 1 0 0 0 0 NC_000019.9:g.41558878=, 60835286, NG_029337.1:g.9572=, NC_000019.10:g.41052973=, NG_029337.1:g.9572C>T, NC_000019.9:g.41558878G>A, NC_000019.10:g.41052973G>A, rs56156262, 56156262 +PA166153890 rs56160474 PA145 DPYD NC_000001.11:97078702 3 0 0 0 0 NC_000001.11:g.97078702=, NG_008807.2:g.847358=, NC_000001.11:g.97078702A>G, rs56160474, XM_005270561.1:c.*274T>C, NM_000110.3:c.*274T>C, 56160474, NC_000001.10:g.97544258=, XM_005270562.1:c.*274T>C, XM_005270562.3:c.*274T>C, NC_000001.10:g.97544258A>G, NG_008807.2:g.847358T>C +PA166154279 rs561610 PA266 PGR NC_000011.10:101032263 1 0 0 0 0 NM_001271161.2:c.*6853A>G, NR_073141.2:n.9596A>G, NR_073142.2:n.9479A>G, NC_000011.9:g.100902994T>A, NC_000011.9:g.100902994T>C, NM_001202474.3:c.*6853A>G, NR_073143.2:n.9211A>G, 386599201, 56501380, NC_000011.9:g.100902994T>G, rs561610, NC_000011.9:g.100902994=, rs56501380, 561610, NG_016475.1:g.102551A>G, NG_016475.1:g.102551A>T, NM_001271162.1:c.*6853A>G, rs57645907, NC_000011.10:g.101032263T>G, rs386599201, NC_000011.10:g.101032263T>C, NM_000926.4:c.*6853A>G, 57645907, NG_016475.1:g.102551A>C, NC_000011.10:g.101032263T>A, NG_016475.1:g.102551=, NC_000011.10:g.101032263= +PA166157209 rs56161402 PA356 TPMT NC_000006.12:18130762 4 0 0 0 0 rs56161402, XP_011513141.1:p.Arg200His, XM_011514839.1:c.599G>A, XP_011513142.1:p.Arg192His, NG_012137.2:g.29382=, NC_000006.12:g.18130762=, NP_000358.1:p.Arg215His, NC_000006.11:g.18130993=, NC_000006.11:g.18130993C>T, NG_012137.2:g.29382G>A, NC_000006.12:g.18130762C>T, 56161402, NP_000358.1:p.Arg215=, XM_011514840.1:c.575G>A, NM_000367.3:c.644G>A +PA166154184 rs56165452 PA126 CYP2C9 NC_000010.11:94981297 5 1 1 0 0 NG_008385.1:g.47640T>C, NG_008385.1:g.47640T>A, NG_008385.2:g.48140=, XP_005269632.1:p.Ile359Thr, NP_000762.2:p.Ile359=, NM_000771.3:c.1076T>C, NC_000010.10:g.96741054=, NC_000010.11:g.94981297=, NG_008385.1:g.47640=, NP_000762.2:p.Ile359Asn, NC_000010.11:g.94981297T>C, rs56165452, NC_000010.11:g.94981297T>A, NG_008385.2:g.48140T>A, NP_000762.2:p.Ile359Thr, NG_008385.2:g.48140T>C, NC_000010.10:g.96741054T>C, 56165452, XM_005269575.1:c.1076T>C, NC_000010.10:g.96741054T>A +PA166154654 rs56199088 PA134865839 SLCO1B1 NC_000012.12:21239077 1 1 1 0 0 NC_000012.11:g.21392011A>G, NP_006437.3:p.Asp655Gly, NG_011745.1:g.112884A>G, NC_000012.12:g.21239077A>G, 56199088, NC_000012.12:g.21239077=, NM_006446.4:c.1964A>G, NP_006437.3:p.Asp655=, NG_011745.1:g.112884A>T, NC_000012.11:g.21392011A>T, NG_011745.1:g.112884=, NP_006437.3:p.Asp655Val, NC_000012.12:g.21239077A>T, rs56199088, NC_000012.11:g.21392011= +PA166156274 rs562 PA395 ABCC5 NC_000003.12:183920057 2 0 0 0 0 NC_000003.12:g.183920057T>C, rs3805113, 3805113, NC_000003.12:g.183920057T>G, NG_047115.1:g.102954=, 59910781, XM_005247058.3:c.*1243A>G, rs59910781, rs17675, XM_011512314.1:c.*1243A>G, NC_000003.12:g.183920057T>A, XM_005247059.3:c.*1243A>G, 17675, XM_011512316.1:c.*1243A>G, NC_000003.11:g.183637845T>G, NM_001320032.1:c.*1243A>G, rs562, NG_047115.1:g.102954A>T, XM_005247062.1:c.*1243A>G, XM_005247058.1:c.*1243A>G, rs3193906, 562, 3193906, NM_005688.3:c.*1243A>G, NC_000003.12:g.183920057=, XM_005247060.1:c.*1243A>G, NC_000003.11:g.183637845T>C, NC_000003.11:g.183637845=, NG_047115.1:g.102954A>C, NC_000003.11:g.183637845T>A, NG_047115.1:g.102954A>G, XM_005247059.1:c.*1243A>G +PA166223001 rs56209714 PA166048977 RBFOX3 NC_000017.11:79117186 1 0 0 0 0 56209714, NC_000017.11:g.79117186=, NC_000017.11:g.79117186G>A, rs56209714, NC_000017.10:g.77113268G>A, NG_053112.1:g.499018C>T, NG_053112.1:g.499018=, NC_000017.10:g.77113268= +PA166177124 rs56229625 NC_000004.12:129255324 1 1 0 0 0 NC_000004.12:g.129255324=, NC_000004.11:g.130176479=, NC_000004.11:g.130176479G>T, rs56229625, 56657749, NC_000004.12:g.129255324G>T, 56229625 +PA166305041 rs56234624 PA24355 SEPTIN3 NC_000022.11:41992822 1 0 0 0 0 58128766, NC_000022.10:g.42388826=, NC_000022.11:g.41992822=, 62238560, NC_000022.11:g.41992822A>G, NC_000022.10:g.42388826A>G, rs56234624, 56234624 +PA166170923 rs56240334 PA134861355 ADCK1 NC_000014.9:77905060 1 0 0 0 0 NC_000014.9:g.77905060A>G, NC_000014.9:g.77905060=, 56240334, NC_000014.8:g.78371403=, NC_000014.8:g.78371403A>G, rs56240334 +PA166157495 rs56244447 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99672653 1 0 0 0 0 XP_006715922.1:p.Leu82Arg, XR_927383.1:n.370T>G, NG_007938.1:g.12346T>G, XP_005250226.1:p.Leu72Arg, NC_000007.14:g.99672653=, NR_033808.1:n.847T>G, XM_005250171.1:c.-95T>G, XM_011515847.1:c.-413T>G, rs56244447, XM_011515844.1:c.-203T>G, NM_001291830.1:c.215T>G, 56244447, NM_001291829.1:c.-95T>G, NC_000007.13:g.99270276A>C, XM_005250172.1:c.-95T>G, XR_927402.1:n.1466+48473A>C, NR_033807.2:n.894T>G, NM_001190484.2:c.245T>G, NP_000768.1:p.Leu82=, NM_000777.4:c.245T>G, NP_000768.1:p.Leu82Arg, NG_007938.1:g.12346=, NC_000007.13:g.99270276=, XM_011515846.1:c.-305T>G, XM_011515843.1:c.-95T>G, NR_033810.1:n.847T>G, NR_033812.1:n.479T>G, XM_005250198.1:c.806-4551A>C, XM_006715859.2:c.245T>G, NR_033809.1:n.607T>G, NR_033811.1:n.479T>G, XM_005250170.1:c.-95T>G, XM_005250173.1:c.-305T>G, NC_000007.14:g.99672653A>C, NP_001177413.1:p.Leu82Arg, XM_011515845.1:c.-305T>G, NP_001278759.1:p.Leu72Arg, XM_005250169.1:c.215T>G +PA166155507 rs56256500 PA121 CYP2A6 NC_000019.10:40848266 7 3 3 0 0 NC_000019.9:g.41354171=, rs57102233, NC_000019.10:g.40848266G>C, XM_005258568.1:c.454C>A, NC_000019.10:g.40848266G>A, NG_008377.1:g.7182C>T, 56256500, NP_000753.3:p.Arg203Gly, XP_005258625.1:p.Arg152Ser, NP_000753.3:p.Arg203=, NC_000019.9:g.41354171G>T, NG_008377.1:g.7182=, NM_000762.5:c.607C>A, 57102233, NP_000753.3:p.Arg203Cys, NP_000753.3:p.Arg203Ser, rs56256500, NC_000019.10:g.40848266G>T, NC_000019.10:g.40848266=, NG_008377.1:g.7182C>G, NC_000019.9:g.41354171G>A, NG_008377.1:g.7182C>A, NC_000019.9:g.41354171G>C +PA166154953 rs56276455 PA27093 CYP1A2 NC_000015.10:74751854 1 0 0 0 0 NP_000752.2:p.Asp348=, NG_008431.2:g.34313G>A, NC_000015.9:g.75044195G>A, NM_000761.3:c.1042G>A, NC_000015.10:g.74751854G>A, 56276455, NG_061543.1:g.8010G>A, NC_000015.10:g.74751854=, NG_008431.1:g.34313G>A, NG_008431.2:g.34313=, rs56276455, NG_061543.1:g.8010=, NC_000015.9:g.75044195=, NP_000752.2:p.Asp348Asn, NM_000761.4:c.1042G>A +PA166159550 rs56276561 PA145 DPYD NC_000001.11:97721492 2 0 0 0 0 56276561, rs56276561, NC_000001.11:g.97721492=, NG_008807.2:g.204568=, NC_000001.11:g.97721492C>T, NC_000001.10:g.98187048=, 199469516, NC_000001.10:g.98187048C>T, NG_008807.2:g.204568G>A +PA166179966 rs562859 PA31945 OPRM1 NC_000006.12:154093438 5 1 0 0 0 NC_000006.11:g.154414573C>A, NG_021208.2:g.87938C>G, NG_021208.2:g.87938=, 562859, NC_000006.12:g.154093438C>T, NC_000006.11:g.154414573=, NG_021208.2:g.87938C>A, NC_000006.11:g.154414573C>T, NP_001008505.2:p.Leu445Met, NC_000006.12:g.154093438=, 3798682, NC_000006.11:g.154414573C>G, NC_000006.12:g.154093438C>G, NG_021208.2:g.87938C>T, 61539523, NP_001008505.2:p.Leu445Val, rs562859, NC_000006.12:g.154093438C>A, NP_001008505.2:p.Leu445= +PA166160514 rs56292801 PA166160518,PA134920282 MIR5189,ZFPM1 NC_000016.10:88468933 1 0 0 0 0 NC_000016.10:g.88468933G>C, NC_000016.9:g.88535341G>C, NC_000016.9:g.88535341=, NC_000016.10:g.88468933G>A, 56292801, NC_000016.9:g.88535341G>A, NC_000016.10:g.88468933=, rs56292801 +PA166159889 rs56293913 PA145 DPYD NC_000001.11:97573985 7 0 0 0 0 NC_000001.10:g.98039541A>G, NG_008807.2:g.352075=, 199469531, NC_000001.10:g.98039541=, NG_008807.2:g.352075T>C, 56293913, rs56293913, NC_000001.11:g.97573985=, NC_000001.11:g.97573985A>G +PA166155885 rs56294817 PA29253 HES6 NC_000002.12:238240329 1 0 0 0 0 NM_001142853.2:c.-424G>T, NM_001282434.1:c.-424G>T, NC_000002.12:g.238240329=, NM_018645.5:c.-424G>T, XM_005246096.1:c.-424G>T, NC_000002.11:g.239148970=, NC_000002.12:g.238240329C>A, rs56294817, NC_000002.11:g.239148970C>A, XM_005246095.1:c.-424G>T, 56294817 +PA166155132 rs56314408 PA133787052 VKORC1 NC_000016.10:31106068 1 0 0 0 0 NC_000016.9:g.31117389T>C, NC_000016.10:g.31106068T>C, NC_000016.9:g.31117389=, NG_033011.1:g.2775T>C, rs61640251, 56314408, NG_033011.1:g.2775=, rs56314408, NC_000016.10:g.31106068=, 61640251 +PA166157496 rs56324128 PA130 CYP3A4 NC_000007.14:99778079 12 2 1 0 0 XM_011515841.1:c.167G>A, rs386626576, rs56324128, NP_059488.2:p.Gly56Asp, 59765626, NP_001189784.1:p.Gly56Asp, rs59765626, NC_000007.14:g.99778079=, 56324128, NP_059488.2:p.Gly56=, XP_011514144.1:p.Gly56Asp, XP_011514143.1:p.Gly56Asp, NG_008421.1:g.11107=, NM_001202855.2:c.167G>A, NM_017460.5:c.167G>A, NG_008421.1:g.11107G>A, NC_000007.13:g.99375702=, NC_000007.14:g.99778079C>T, XM_011515842.1:c.167G>A, NC_000007.13:g.99375702C>T, 386626576 +PA166154185 rs56337013 PA124 CYP2C19 NC_000010.11:94852738 9 3 3 0 0 NC_000010.10:g.96612495C>T, 56337013, NC_000010.10:g.96612495=, NG_008384.2:g.95033C>T, NG_008384.3:g.95058=, rs56337013, NP_000760.1:p.Arg433Trp, NM_000769.1:c.1297C>T, NC_000010.11:g.94852738=, NM_000769.2:c.1297C>T, NC_000010.11:g.94852738C>T, NP_000760.1:p.Arg433=, NG_008384.3:g.95058C>T +PA166177139 rs56355515 PA38265 MIEF2 NC_000017.11:18265930 1 1 0 0 0 NC_000017.10:g.18169244=, rs56355515, NC_000017.11:g.18265930=, NC_000017.10:g.18169244G>T, NC_000017.11:g.18265930G>T, NC_000017.10:g.18169244G>A, 56355515, NC_000017.11:g.18265930G>A +PA166177796 rs563649 PA31945 OPRM1 NC_000006.12:154086832 7 1 0 0 0 3798679, NC_000006.11:g.154407967=, 563649, NC_000006.12:g.154086832=, 17084962, 11567104, 386599269, NG_021208.2:g.81332C>T, 117436989, 60350558, NC_000006.12:g.154086832C>T, NC_000006.11:g.154407967C>T, NG_021208.2:g.81332=, rs563649 +PA166170092 rs56392308 PA24415 ABO NC_000009.12:133255672 1 1 0 0 0 56392308, 8176750, 373494658, NP_065202.2:p.Pro354fs, NG_006669.1:g.21998del, NC_000009.12:g.133255670_133255672=, NG_006669.1:g.21996_21998=, NC_000009.12:g.133255672del, NG_006669.2:g.24544_24546=, rs56392308, NC_000009.11:g.136131057_136131059=, NP_065202.2:p.Asn353_Pro354=, 150311214, NG_006669.2:g.24546del, NC_000009.11:g.136131059del +PA166157667 rs56393504 PA18 NAT2 NC_000008.11:18400841 1 1 1 0 0 NC_000008.10:g.18258351G>A, XP_011542660.1:p.Val280Met, NP_000006.2:p.Val280Met, NP_000006.2:p.Val280Leu, NC_000008.11:g.18400841=, rs56393504, XM_011544358.1:c.838G>A, NG_012246.1:g.14597=, NG_012246.1:g.14597G>A, NC_000008.11:g.18400841G>A, NC_000008.10:g.18258351=, NC_000008.10:g.18258351G>T, NP_000006.2:p.Val280=, NC_000008.11:g.18400841G>T, 56393504, NM_000015.2:c.838G>A, NG_012246.1:g.14597G>T +PA166154233 rs564813580 PA126 CYP2C9 NC_000010.11:94938828 3 2 2 0 0 NM_000771.3:c.146A>G, XP_005269632.1:p.Asp49Val, NC_000010.11:g.94938828A>G, NP_000762.2:p.Asp49=, NC_000010.11:g.94938828=, NG_008385.2:g.5671A>G, XM_005269575.1:c.146A>T, NG_008385.1:g.5171A>T, NG_008385.2:g.5671A>T, XM_005269575.1:c.146A>G, NG_008385.1:g.5171=, NC_000010.10:g.96698585=, NP_000762.2:p.Asp49Val, 564813580, NC_000010.10:g.96698585A>G, NG_008385.2:g.5671=, NM_000771.3:c.146A>T, NC_000010.11:g.94938828A>T, rs564813580, NC_000010.10:g.96698585A>T, NG_008385.1:g.5171A>G, NP_000762.2:p.Asp49Gly, XP_005269632.1:p.Asp49Gly +PA166279341 rs564991 PA24876 APCDD1 NC_000018.10:10465057 1 0 0 0 0 NC_000018.10:g.10465057=, NG_027685.1:g.15430A>C, 59271406, NC_000018.9:g.10465054A>C, rs564991, 564991, NG_027685.1:g.15430=, NC_000018.10:g.10465057A>C, NC_000018.9:g.10465054= +PA166210042 rs56722963 NC_000010.11:108778076 1 1 0 0 0 NC_000010.11:g.108778076C>T, NC_000010.10:g.110537834C>T, 56722963, rs56722963, NC_000010.10:g.110537834=, NC_000010.11:g.108778076= +PA166156258 rs567606867 PA128 CYP2D6 NC_000022.11:42128807 3 1 0 0 0 XP_011528273.1:p.Glu167Lys, NG_008376.4:g.7004G>A, XP_011547121.1:p.Glu115Lys, XM_011547756.1:c.-1228C>T, XP_011528270.1:p.Glu215Lys, XP_011528272.1:p.Glu164Lys, XM_011529972.1:c.643G>A, XP_011528269.1:p.Glu215Lys, rs567606867, NC_000022.11:g.42128807C>T, NW_009646208.1:g.14373C>T, XM_011529970.1:c.490G>A, NP_001020332.2:p.Glu164Lys, NW_004504305.1:g.51134C>T, XM_005278354.1:c.343G>A, XM_011529968.1:c.643G>A, XM_005278354.3:c.343G>A, NC_000022.10:g.42524809=, XP_005278411.1:p.Glu115Lys, XM_005278353.1:c.499G>A, XM_011547750.1:c.499G>A, XP_011528271.1:p.Glu167Lys, XM_011548819.1:c.343G>A, NG_008376.3:g.6185=, XM_011547751.1:c.427G>A, XM_011529967.1:c.643G>A, XP_011528268.1:p.Glu215Lys, XM_011547541.1:c.343G>A, NC_000022.10:g.42524809C>T, NP_000097.3:p.Glu215Lys, XM_011529969.1:c.499G>A, XP_011546052.1:p.Glu167Lys, NP_000097.3:p.Glu215=, NC_000022.11:g.42128807=, NM_000106.5:c.643G>A, NG_008376.4:g.7004=, XM_011529971.1:c.499G>A, XP_005278410.1:p.Glu167Lys, XR_430455.2:n.-1064C>T, NM_001025161.2:c.490G>A, NT_187682.1:g.51148C>T, XM_011529966.1:c.643G>A, XP_011546053.1:p.Glu143Lys, 567606867, XR_952745.1:n.1800G>A, NG_008376.3:g.6185G>A, XP_011528274.1:p.Glu215Lys, XP_011545843.1:p.Glu115Lys +PA166159417 rs568132506 PA145 DPYD NC_000001.11:97740456 3 0 0 0 0 rs568132506, NC_000001.10:g.98206012G>A, NG_008807.2:g.185604C>T, NC_000001.10:g.98206012=, 568132506, NP_000101.2:p.Pro86=, NP_000101.2:p.Pro86Leu, NC_000001.11:g.97740456=, NC_000001.11:g.97740456G>A, NG_008807.2:g.185604= +PA166208322 rs568155950 PA124 CYP2C19 NC_000010.11:94842987 1 0 0 0 0 NC_000010.11:g.94842987C>G, NP_000760.1:p.Thr371Ser, NP_000760.1:p.Thr371=, rs568155950, NG_008384.3:g.85307=, NP_000760.1:p.Thr371Asn, NC_000010.10:g.96602744C>G, NC_000010.10:g.96602744C>A, 568155950, NC_000010.10:g.96602744=, NC_000010.11:g.94842987=, NC_000010.11:g.94842987C>A, NG_008384.3:g.85307C>A, NG_008384.3:g.85307C>G +PA166319644 rs568367673 PA145 DPYD NC_000001.11:97234994 1 1 0 0 0 rs568367673, NC_000001.10:g.97700550=, NC_000001.11:g.97234994=, NP_000101.2:p.Gly767Ala, NG_008807.2:g.691066G>C, NP_000101.2:p.Gly767=, NG_008807.2:g.691066=, NC_000001.11:g.97234994C>A, 568367673, NC_000001.11:g.97234994C>G, NC_000001.10:g.97700550C>A, NG_008807.2:g.691066G>T, NP_000101.2:p.Gly767Val, NC_000001.10:g.97700550C>G +PA166156289 rs568408 PA29784 IL12A NC_000003.12:159995680 1 1 0 0 0 rs2647925, rs59318518, 568408, 2647925, NG_033022.1:g.11845=, NC_000003.11:g.159713467G>A, NC_000003.11:g.159713467=, rs568408, NR_108088.1:n.1085-1375C>T, 59318518, NG_033022.1:g.11845G>A, NM_000882.3:c.*121G>A, XR_241609.1:n.1085-1375C>T, NC_000003.12:g.159995680=, XM_005247435.1:c.*121G>A, NC_000003.12:g.159995680G>A +PA166236402 rs568724445 PA25294 BCHE NC_000003.12:165830419 1 1 0 0 0 rs568724445, NP_000046.1:p.Trp205Ter, NP_000046.1:p.Trp205Cys, NC_000003.11:g.165548207C>T, NG_009031.1:g.12047=, 568724445, NC_000003.12:g.165830419=, NG_009031.1:g.12047G>T, NC_000003.12:g.165830419C>T, NC_000003.11:g.165548207=, NC_000003.11:g.165548207C>A, NP_000046.1:p.Trp205=, NG_009031.1:g.12047G>A, NC_000003.12:g.165830419C>A +PA166279685 rs568811809 PA121 CYP2A6 NC_000019.10:40848286_40848287 9 4 4 0 0 568811809, NP_000753.3:p.Lys196fs, NC_000019.9:g.41354190_41354192=, NC_000019.9:g.41354191_41354192del, NG_008377.1:g.7161_7163=, NC_000019.10:g.40848286_40848287del, NP_000753.3:p.Lys196=, rs568811809, NC_000019.10:g.40848285_40848287=, NG_008377.1:g.7162_7163del +PA166154280 rs568910 PA26083 CASP1 NC_000011.10:105033843 1 0 0 0 0 NM_033295.3:c.58+581T>G, NM_001223.4:c.274+365T>G, 568910, 17103561, NM_001257119.2:c.274+365T>G, NC_000011.9:g.104904570=, NG_029124.1:g.6288T>G, XM_006718924.2:c.406+365T>G, NC_000011.10:g.105033843A>C, NM_033293.3:c.58+581T>G, rs386599431, NM_033292.3:c.274+365T>G, NG_029124.2:g.6288=, NC_000011.9:g.104904570A>C, NG_029124.1:g.6288=, rs59645688, XM_011543017.1:c.406+365T>G, NM_033294.3:c.58+581T>G, 386599431, NC_000011.10:g.105033843=, rs568910, NG_029124.2:g.6288T>G, NM_001257118.2:c.274+365T>G, XM_011543018.1:c.406+365T>G, rs17103561, 59645688 +PA166180508 rs56903885 PA317 SLC10A1 NC_000014.9:69776372 1 0 0 0 0 61744185, NC_000014.8:g.70243089=, 56903885, NC_000014.9:g.69776372=, rs56903885, NC_000014.8:g.70243089G>T, NP_003040.1:p.Ile320=, NC_000014.9:g.69776372G>T +PA166154281 rs569108 PA31109 MS4A2 NC_000011.10:60095631 1 0 0 0 0 NP_000130.1:p.Glu237=, NC_000011.9:g.59863104A>G, NG_016014.1:g.11968A>G, NP_001243845.1:p.Glu192Gly, XP_005273903.1:p.Glu244Gly, NC_000011.10:g.60095631=, 569108, 52790246, XM_011544850.1:c.710A>G, NC_000011.10:g.60095631A>G, NM_001256916.1:c.575A>G, 386599440, rs59755874, NM_000139.4:c.710A>G, rs386599440, XM_005273846.3:c.731A>G, rs569108, NP_000130.1:p.Glu237Gly, NC_000011.9:g.59863104=, NG_016014.1:g.11968=, XM_005273846.1:c.731A>G, rs52790246, XP_011543152.1:p.Glu237Gly, 59755874 +PA166154839 rs569207 PA26491 CHRNA5 NC_000015.10:78580777 1 0 0 0 0 XM_005254142.2:c.107-34C>T, XM_005254142.1:c.107-34C>T, NC_000015.10:g.78580777=, NG_023328.1:g.20258C>G, 569207, XM_011521174.1:c.107-34C>T, NG_023328.1:g.20258=, NC_000015.10:g.78580777C>T, NC_000015.9:g.78873119=, NC_000015.9:g.78873119C>G, NM_000745.3:c.107-34C>T, NG_023328.1:g.20258C>T, rs569207, NC_000015.9:g.78873119C>T, NC_000015.10:g.78580777C>G, NM_001307945.1:c.107-34C>T +PA166156259 rs569229126 PA128 CYP2D6 NC_000022.11:42129098 13 9 9 0 0 NT_187682.1:g.51439T>C, rs569229126, XM_011547750.1:c.297A>G, XP_011545843.1:p.Glu47=, NM_000106.5:c.440A>G, XM_005278354.1:c.141A>G, NG_008376.3:g.5894=, NP_000097.3:p.Lys147Arg, XP_011528268.1:p.Lys147Arg, NC_000022.10:g.42525100T>C, XM_011529966.1:c.440A>G, XM_011529972.1:c.440A>G, 569229126, NP_000097.3:p.Lys147=, XM_011547541.1:c.141A>G, XP_011546052.1:p.Glu99=, XM_011547756.1:c.-937T>C, XR_952745.1:n.1597A>G, NG_008376.3:g.5894A>G, XM_011529969.1:c.297A>G, XP_011528271.1:p.Glu99=, NW_004504305.1:g.51425T>C, NC_000022.11:g.42129098T>C, XM_011529971.1:c.297A>G, XP_011546053.1:p.Lys75Arg, NG_008376.4:g.6713A>G, NG_008376.4:g.6713=, NW_009646208.1:g.14664T>C, XP_005278411.1:p.Glu47=, NM_001025161.2:c.353-154A>G, XM_005278353.1:c.363-155A>G, XP_011528269.1:p.Lys147Arg, XM_011529970.1:c.353-154A>G, XP_011547121.1:p.Glu47=, XM_011529968.1:c.440A>G, XM_011547751.1:c.224A>G, NC_000022.10:g.42525100=, XP_011528274.1:p.Lys147Arg, XM_011548819.1:c.141A>G, NC_000022.11:g.42129098=, XP_011528270.1:p.Lys147Arg, XR_430455.2:n.-773T>C, XM_005278354.3:c.141A>G, XP_011528273.1:p.Glu99=, XM_011529967.1:c.440A>G +PA166184010 rs569284 PA31945 OPRM1 NC_000006.12:154143195 1 0 0 0 0 rs569284, NG_021208.2:g.137695A>C, 569284, NC_000006.12:g.154143195A>C, NG_021208.2:g.137695=, NC_000006.11:g.154464330=, 59071972, NC_000006.12:g.154143195=, 386599448, NC_000006.11:g.154464330A>C +PA166307421 rs569310717 PA390 ABCG2 NC_000004.12:88132600 1 0 0 0 0 NG_032067.2:g.103723=, rs569310717, NP_004818.2:p.Gly80=, NC_000004.11:g.89053752=, NP_004818.2:p.Gly80Glu, NC_000004.12:g.88132600=, NG_032067.2:g.103723G>A, NC_000004.12:g.88132600C>T, NC_000004.11:g.89053752C>T, 569310717 +PA166184203 rs569356 PA31942 OPRD1 NC_000001.11:28810174 4 0 0 0 0 NC_000001.11:g.28810174A>G, 17578898, NC_000001.10:g.29136686=, 569356, rs569356, NC_000001.11:g.28810174=, NC_000001.10:g.29136686A>G +PA166319721 rs569661196 PA145 DPYD NC_000001.11:97306215 1 1 0 0 0 NG_008807.2:g.619845=, NC_000001.11:g.97306215A>G, NC_000001.10:g.97771771A>G, 569661196, NP_000101.2:p.Val714=, NG_008807.2:g.619845T>C, NP_000101.2:p.Val714Ala, rs569661196, NC_000001.11:g.97306215=, NC_000001.10:g.97771771= +PA166242085 rs570051168 PA130 CYP3A4 NC_000007.14:99784018 12 1 1 0 0 NG_008421.1:g.5168=, rs570051168, 570051168, NC_000007.13:g.99381641=, NG_008421.1:g.5168C>G, NP_059488.2:p.Leu22=, NP_059488.2:p.Leu22Val, NC_000007.14:g.99784018G>C, NC_000007.14:g.99784018=, NC_000007.13:g.99381641G>C +PA166319461 rs570122671 PA145 DPYD NC_000001.11:97305348 1 1 0 0 0 NC_000001.10:g.97770904G>A, NG_008807.2:g.620712=, 570122671, NC_000001.10:g.97770904G>C, NP_000101.2:p.Thr737Ile, NP_000101.2:p.Thr737=, NG_008807.2:g.620712C>G, rs570122671, NC_000001.11:g.97305348G>C, NC_000001.11:g.97305348G>A, NC_000001.10:g.97770904=, NG_008807.2:g.620712C>T, NP_000101.2:p.Thr737Ser, NC_000001.11:g.97305348= +PA166155353 rs570317 NC_000019.10:48783974 1 0 0 0 0 NC_000019.9:g.49287231A>G, rs837633, 570317, NC_000019.10:g.48783974=, NC_000019.9:g.49287231=, NC_000019.10:g.48783974A>T, rs570317, 837633, NC_000019.9:g.49287231A>T, NC_000019.10:g.48783974A>G +PA166154955 rs57064725 PA33878 PSMA4 NC_000015.10:78540694 1 1 0 0 0 57064725, NC_000015.10:g.78540694C>A, NC_000015.10:g.78540694=, NC_000015.9:g.78833036C>A, NM_001102667.1:c.-24+231C>A, NM_002789.4:c.-24+155C>A, XM_005254550.1:c.-24+155C>A, NM_001102668.1:c.-74+155C>A, NC_000015.9:g.78833036=, rs57064725 +PA166178579 rs57081354 PA31454 NBEA NC_000013.11:35202457 1 1 0 0 0 rs57081354, 57081354, NC_000013.11:g.35202457=, NC_000013.10:g.35776594=, NG_028156.1:g.265171T>C, NC_000013.10:g.35776594T>C, NC_000013.11:g.35202457T>C, NG_028156.1:g.265171= +PA166158926 rs57098334 PA312 SLC6A4 NC_000017.11:30221578 16 4 0 0 0 NC_000017.10:g.28548587_28548595CAGCCCAC[2]CCAGCCCAC[11]C[1], NG_011747.2:g.19360_19368=, rs57098334, NC_000017.10:g.28548587_28548595CAGCCCAC[2]CCAGCCCAC[8]C[1], NC_000017.11:g.30221569_30221577CAGCCCAC[2]CCAGCCCAC[9]C[1], NG_011747.2:g.19360_19368GGTGGGCTG[9]GTGGGCTG[1], NG_055510.1:g.353_361CAGCCCAC[2]CCAGCCCAC[8]C[1], NC_000017.11:g.30221569_30221577=, NC_000017.11:g.30221569_30221577CAGCCCAC[2]CCAGCCCAC[8]C[1], NG_011747.2:g.19360_19368GGTGGGCTG[12]GTGGGCTG[1], NC_000017.10:g.28548587_28548595=, NC_000017.10:g.28548587_28548595CAGCCCAC[2]CCAGCCCAC[9]C[1], NG_011747.2:g.19360_19368GGTGGGCTG[10]GTGGGCTG[1], NG_055510.1:g.353_361=, NC_000017.11:g.30221569_30221577CAGCCCAC[2]CCAGCCCAC[11]C[1], NG_055510.1:g.353_361CAGCCCAC[2]CCAGCCCAC[9]C[1], 57098334, NG_055510.1:g.353_361CAGCCCAC[2]CCAGCCCAC[11]C[1] +PA166261982 rs571335587 PA121 CYP2A6 NC_000019.10:40848304 1 1 0 0 0 NC_000019.9:g.41354209C>A, 571335587, NP_000753.3:p.Arg190His, NG_008377.1:g.7144=, NG_008377.1:g.7144G>A, NC_000019.10:g.40848304C>T, rs571335587, NC_000019.9:g.41354209=, NC_000019.9:g.41354209C>T, NC_000019.10:g.40848304=, NG_008377.1:g.7144G>T, NP_000753.3:p.Arg190Leu, NC_000019.10:g.40848304C>A, NP_000753.3:p.Arg190= +PA166154973 rs5723 PA307 SCNN1G NC_000016.10:23215466 2 0 0 0 0 XM_005255468.1:c.1947C>G, NC_000016.9:g.23226787C>G, NC_000016.10:g.23215466C>G, 2228992, NP_001030.2:p.Leu649=, 57201603, NG_011909.1:g.37748=, NG_011909.1:g.37748C>G, rs2228992, rs5723, XM_005255469.1:c.1848C>G, NC_000016.9:g.23226787=, XP_005255526.1:p.Leu616=, NC_000016.10:g.23215466=, XP_005255525.1:p.Leu649=, 5723, rs57201603, NM_001039.3:c.1947C>G +PA166208147 rs572853437 PA124 CYP2C19 NC_000010.11:94762869 1 0 0 0 0 NC_000010.10:g.96522626=, NC_000010.11:g.94762869C>A, NP_000760.1:p.Thr55Asn, NC_000010.10:g.96522626C>G, NP_000760.1:p.Thr55=, 572853437, NC_000010.11:g.94762869C>G, NG_008384.3:g.5189C>A, NC_000010.10:g.96522626C>A, NP_000760.1:p.Thr55Ser, NG_008384.3:g.5189=, NG_008384.3:g.5189C>G, rs572853437, NC_000010.11:g.94762869= +PA166154974 rs5729 PA307 SCNN1G NC_000016.10:23216075 2 0 0 0 0 60508947, NC_000016.9:g.23227396=, NC_000016.10:g.23216075T>A, NC_000016.9:g.23227396T>A, 5729, NC_000016.10:g.23216075=, rs60508947, NG_011909.1:g.38357T>A, XM_005255469.1:c.*606T>A, NM_001039.3:c.*606T>A, XM_005255468.1:c.*606T>A, rs5729, NG_011909.1:g.38357= +PA166154282 rs572943 PA266 PGR NC_000011.10:101084887 1 0 0 0 0 NC_000011.10:g.101084887G>A, NC_000011.10:g.101084887=, NM_001271162.1:c.124+6873C>T, NM_000926.4:c.1906+6873C>T, rs1310193, 1310193, rs1310330, 1310330, NM_001271161.2:c.1414+6873C>T, NM_001202474.3:c.1414+6873C>T, rs1310337, 1310337, NR_073141.2:n.1899+6873C>T, NC_000011.9:g.100955618G>A, XM_006718858.2:c.1906+6873C>T, NR_073143.2:n.1899+6873C>T, NR_073142.2:n.1783-22135C>T, 572943, XR_947831.1:n.3478+6873C>T, rs572943, NG_016475.1:g.49927C>T, NG_016475.1:g.49927=, NC_000011.9:g.100955618=, rs1310207, 1310207 +PA166319827 rs573299212 PA145 DPYD NC_000001.11:97593273 1 0 0 0 0 NG_008807.2:g.332787G>A, NC_000001.11:g.97593273C>T, NP_000101.2:p.Arg358=, 573299212, NC_000001.11:g.97593273=, NC_000001.10:g.98058829C>T, NP_000101.2:p.Arg358His, NC_000001.10:g.98058829=, rs573299212, NG_008807.2:g.332787= +PA166157498 rs57409622 PA130 CYP3A4 NC_000007.14:99769805 15 1 1 0 0 XP_011514144.1:p.Arg162Trp, NC_000007.14:g.99769805G>A, NP_059488.2:p.Arg162=, NM_017460.5:c.484C>T, XP_011514143.1:p.Arg162Trp, 57409622, XM_011515842.1:c.484C>T, NP_059488.2:p.Arg162Trp, NG_008421.1:g.19381C>T, NG_008421.1:g.19381=, NP_001189784.1:p.Arg162Trp, NC_000007.14:g.99769805=, NC_000007.13:g.99367428G>A, XM_011515841.1:c.484C>T, rs57409622, NM_001202855.2:c.484C>T, NC_000007.13:g.99367428= +PA166171110 rs5742933 PA32819,PA33447 ORMDL1,PMS1 NC_000002.12:189784590 1 0 0 0 0 5742933, rs5742933, 7561472, 16832050, NC_000002.11:g.190649316=, NC_000002.11:g.190649316G>C, NC_000002.11:g.190649316G>A, NC_000002.12:g.189784590G>C, NC_000002.12:g.189784590G>A, NG_008648.1:g.5506G>A, NG_008648.1:g.5506G>C, NC_000002.12:g.189784590=, NG_008648.1:g.5506= +PA166154413 rs5743854 PA134876213 TOLLIP NC_000011.10:1310024 1 0 0 0 0 NM_001318516.1:c.-526C>G, NC_000011.9:g.1331254G>T, NM_001318515.1:c.-526C>G, XM_005252993.1:c.-526C>G, NM_001318512.1:c.-526C>G, NC_000011.9:g.1331254=, NC_000011.10:g.1310024G>T, XM_005252992.1:c.-526C>G, rs5743854, 5743854, rs6578994, NM_019009.3:c.-526C>G, NC_000011.10:g.1310024G>A, XM_005252991.1:c.-526C>G, NC_000011.10:g.1310024=, 6578994, NR_029409.1:n.317G>C, rs57313783, 57313783, NC_000011.9:g.1331254G>C, NC_000011.10:g.1310024G>C, NC_000011.9:g.1331254G>A +PA166154414 rs5743890 PA134876213 TOLLIP NC_000011.10:1304599 2 0 0 0 0 XM_005252994.1:c.-2190A>G, XM_005252993.1:c.33+4867A>G, 111189994, NC_000011.10:g.1304599T>C, NM_001318515.1:c.33+4867A>G, rs56464945, 58013447, NM_019009.3:c.33+4867A>G, XM_005252991.1:c.33+4867A>G, rs58013447, NC_000011.10:g.1304599=, NC_000011.9:g.1325829T>C, NM_001318514.1:c.-2190A>G, NM_001318516.1:c.33+4867A>G, XM_005252992.1:c.33+4867A>G, rs111189994, 56464945, NC_000011.9:g.1325829=, rs5743890, 5743890, XM_011520192.1:c.-2190A>G, NM_001318512.1:c.33+4867A>G +PA166154415 rs5743894 PA134876213 TOLLIP NC_000011.10:1303542 1 0 0 0 0 NM_001318514.1:c.-1133A>G, NM_001318515.1:c.33+5924A>G, XM_005252993.1:c.33+5924A>G, XM_005252991.1:c.33+5924A>G, NC_000011.9:g.1324772T>A, NC_000011.9:g.1324772T>C, NM_019009.3:c.33+5924A>G, rs5743894, 5743894, XR_930968.1:n.-968A>G, XM_005252994.1:c.-1133A>G, NM_001318516.1:c.33+5924A>G, XM_005252992.1:c.33+5924A>G, NC_000011.9:g.1324772=, NC_000011.10:g.1303542T>C, NM_001318512.1:c.33+5924A>G, NC_000011.10:g.1303542=, NC_000011.10:g.1303542T>A, XM_011520192.1:c.-1133A>G +PA166182390 rs5744168 PA36553 TLR5 NC_000001.11:223111858 1 0 0 0 0 NC_000001.11:g.223111858G>A, NC_000001.11:g.223111858=, NC_000001.10:g.223285200G>A, 5744168, NG_016244.1:g.36425=, rs5744168, NP_003259.2:p.Arg392=, NP_003259.2:p.Arg392Ter, NC_000001.10:g.223285200=, NG_016244.1:g.36425C>T +PA166163371 rs5744174 PA36553 TLR5 NC_000001.11:223111186 2 1 0 0 0 NC_000001.10:g.223284528A>G, NG_016244.1:g.37097=, NC_000001.11:g.223111186A>G, NP_003259.2:p.Phe616=, NC_000001.11:g.223111186=, NP_003259.2:p.Phe616Leu, 117700153, rs5744174, 386599677, 5744174, NC_000001.10:g.223284528=, NG_016244.1:g.37097T>C, 17748224 +PA166154416 rs5744247 PA29802,PA36451 IL18,TEX12 NC_000011.10:112155433 4 1 0 0 0 NM_001243211.1:c.-8-372C>G, XM_005271612.1:c.-24-13812G>C, NG_028143.1:g.13685C>G, rs5744247, NG_028143.1:g.13685=, 5744247, XM_011542806.1:c.-29-351C>G, NC_000011.9:g.112026156=, XM_011542805.1:c.-29-351C>G, NC_000011.10:g.112155433G>C, NC_000011.10:g.112155433=, NC_000011.9:g.112026156G>C, NM_001562.3:c.-8-372C>G +PA166182335 rs57449396 NC_000003.12:176534890 1 1 0 0 0 rs57449396, NC_000003.11:g.176252678C>T, 57449396, NC_000003.12:g.176534890C>T, NC_000003.12:g.176534890=, NC_000003.11:g.176252678= +PA166177622 rs5746136 PA36017 SOD2 NC_000006.12:159682052 2 1 0 0 0 386599755, NC_000006.12:g.159682052=, NG_008729.3:g.85478G>A, NG_008729.3:g.85478=, rs5746136, NC_000006.12:g.159682052C>T, NC_000006.11:g.160103084C>T, 5746136, 6925516, NC_000006.11:g.160103084= +PA166156116 rs5746849 PA117 COMT NC_000022.11:19955474 1 0 0 0 0 XM_005261229.1:c.-385-5725A>G, NC_000022.10:g.19942997A>G, NC_000022.11:g.19955474A>G, rs5746849, 5746849, 58299579, NG_011526.1:g.18735=, NM_001135161.1:c.-92+4422A>G, NC_000022.10:g.19942997=, NM_001135162.1:c.-92+3820A>G, XM_011529890.1:c.-385-5725A>G, NC_000022.11:g.19955474=, XM_011529889.1:c.-92+4422A>G, rs58299579, NG_011526.1:g.18735A>G, XM_011529891.1:c.-385-5725A>G, XM_011529887.1:c.-91-5725A>G, XM_011529888.1:c.-92+3820A>G, NM_000754.3:c.-91-5725A>G +PA166154186 rs57505750 PA126 CYP2C9 NC_000010.11:94981201 3 1 1 0 0 NC_000010.11:g.94981201=, NC_000010.10:g.96740958=, NP_000762.2:p.Ile327=, NC_000010.10:g.96740958T>C, NG_008385.2:g.48044=, NG_008385.1:g.47544=, NG_008385.2:g.48044T>C, NP_000762.2:p.Ile327Thr, rs57505750, NG_008385.1:g.47544T>C, NM_000771.3:c.980T>C, NC_000010.11:g.94981201T>C, XM_005269575.1:c.980T>C, 57505750, XP_005269632.1:p.Ile327Thr +PA166156117 rs5751862 PA164718673 SPECC1L NC_000022.11:24406596 2 0 0 0 0 NG_031915.2:g.140775G>A, NC_000022.10:g.24802564G>A, rs61291748, XM_005261407.1:c.3007-4992G>A, NC_000022.11:g.24406596G>T, XM_005261408.1:c.1090-4992G>A, NG_031915.2:g.140775=, XM_005261406.1:c.3088-4992G>A, NR_103546.1:n.3518-4992G>A, NM_001254733.1:c.286-4992G>A, 5751862, NC_000022.11:g.24406596=, NC_000022.10:g.24802564=, 61291748, rs5751862, NC_000022.11:g.24406596G>A, NM_001145468.3:c.3088-4992G>A, NC_000022.10:g.24802564G>T, NG_031915.2:g.140775G>T, XR_938082.1:n.1890C>T, NM_001254732.2:c.3088-6052G>A, NM_015330.4:c.3088-4992G>A +PA166156118 rs5751876 PA24584,PA165378332 ADORA2A,ADORA2A-AS1 NC_000022.11:24441333 13 1 0 0 0 NP_000666.2:p.Tyr361=, NP_001265426.1:p.Tyr361=, NP_001265428.1:p.Tyr361=, NP_001265427.1:p.Tyr361=, NP_001265429.1:p.Tyr361=, NM_001278499.1:c.1083T>C, NR_103546.1:n.5262T>C, NM_001278498.1:c.1083T>C, NG_052804.1:g.22737=, NM_001278497.1:c.1083T>C, NC_000022.11:g.24441333=, rs5751876, 5751876, 17851062, NR_103543.1:n.936T>C, rs17851062, NG_052804.1:g.22737T>C, NC_000022.10:g.24837301T>C, NR_103544.1:n.916T>C, NM_000675.5:c.1083T>C, NM_001278500.1:c.1083T>C, NR_028484.2:n.833+659A>G, NC_000022.10:g.24837301=, NC_000022.11:g.24441333T>C, NR_028483.2:n.1270+659A>G +PA166320382 rs5751901 PA28662 GGT1 NC_000022.11:24596299 1 0 0 0 0 NG_008111.1:g.17549=, 61624721, 8135781, 9620399, NC_000022.11:g.24596299=, NC_000022.11:g.24596299T>C, NC_000022.10:g.24992266=, 5751901, rs5751901, NC_000022.10:g.24992266T>C, NG_008111.1:g.17549T>C +PA166319824 rs575763449 PA145 DPYD NC_000001.11:97593369 1 0 0 0 0 NC_000001.11:g.97593369=, NG_008807.2:g.332691C>T, rs575763449, NC_000001.10:g.98058925G>A, NC_000001.11:g.97593369G>A, NG_008807.2:g.332691=, NC_000001.10:g.98058925=, 575763449, NP_000101.2:p.Ser326Phe, NP_000101.2:p.Ser326= +PA166155339 rs5758 PA348 TBXA2R NC_000019.10:3595034 1 0 0 0 0 13306047, NC_000019.9:g.3595032C>G, NG_031943.1:g.14464C>T, 10404634, NC_000019.10:g.3595034C>T, NG_013363.1:g.16800G>C, NG_031943.1:g.14464=, NG_013363.1:g.16800G>A, NM_201636.2:c.1026G>A, rs10404634, rs4987260, NG_031943.1:g.14464C>G, rs13306047, NC_000019.9:g.3595032=, 5758, 4987260, NP_963998.2:p.Thr342=, rs17399482, NC_000019.10:g.3595034=, NG_013363.1:g.16800=, NC_000019.9:g.3595032C>T, rs5758, 17399482, NC_000019.10:g.3595034C>G, NM_001060.5:c.*654G>A +PA166319705 rs575853463 PA145 DPYD NC_000001.11:97373592 1 1 0 0 0 575853463, NC_000001.10:g.97839148C>T, NP_000101.2:p.Gly676Ala, NP_000101.2:p.Gly676=, rs575853463, NG_008807.2:g.552468G>C, NC_000001.10:g.97839148C>G, NG_008807.2:g.552468=, NP_000101.2:p.Gly676Glu, NC_000001.11:g.97373592=, NC_000001.11:g.97373592C>G, NC_000001.11:g.97373592C>T, NC_000001.10:g.97839148=, NG_008807.2:g.552468G>A +PA166156119 rs5758550 PA145147710 WBP2NL NC_000022.11:42016707 6 0 0 0 0 NC_000022.10:g.42412711G>T, NG_055461.1:g.1119G>A, NC_000022.10:g.42412711=, XR_244353.1:n.3279-2604G>A, XR_244355.1:n.3279-3297G>A, rs56852199, 8139068, NG_055461.1:g.1119G>T, rs8139068, NC_000022.10:g.42412711G>A, XR_937830.1:n.3536-2938G>A, rs5758550, XR_244354.1:n.21-2955G>A, NC_000022.11:g.42016707=, 5758550, XR_244353.3:n.3536-2604G>A, XR_937828.1:n.3956-2604G>A, NC_000022.11:g.42016707G>T, NG_055461.1:g.1119=, XR_244354.3:n.3536-2955G>A, NC_000022.11:g.42016707G>A, XR_937829.1:n.3536-2604G>A, XR_937827.1:n.3956-2604G>A, NM_152613.2:c.63-2604G>A, 56852199 +PA166156120 rs5760405 PA164718673 SPECC1L NC_000022.11:24417873 1 0 0 0 0 NC_000022.10:g.24813841C>T, NM_015330.4:c.*3250C>T, NG_031915.2:g.152052=, rs5760405, NC_000022.11:g.24417873C>T, 5760405, NG_031915.2:g.152052C>T, NC_000022.10:g.24813841C>G, NM_001254732.2:c.*3250C>T, XM_005261406.1:c.*3250C>T, NR_103546.1:n.3905+3129C>T, XM_005261407.1:c.*3250C>T, XM_005261408.1:c.*3250C>T, NC_000022.11:g.24417873C>G, NC_000022.10:g.24813841=, NM_001254733.1:c.*3250C>T, NG_031915.2:g.152052C>G, NC_000022.11:g.24417873=, NM_001145468.3:c.*3250C>T +PA166156121 rs5760410 PA24584,PA164718673 ADORA2A,SPECC1L NC_000022.11:24419438 2 1 0 0 0 NC_000022.10:g.24815406G>T, rs5760410, NC_000022.11:g.24419438G>A, 5760410, NG_052804.1:g.842=, NC_000022.11:g.24419438G>T, NC_000022.10:g.24815406=, NR_103546.1:n.3905+4694G>A, NG_031915.2:g.153617=, NG_031915.2:g.153617G>T, NC_000022.10:g.24815406G>C, NG_031915.2:g.153617G>C, NC_000022.10:g.24815406G>A, NG_031915.2:g.153617G>A, NC_000022.11:g.24419438=, NG_052804.1:g.842G>A, NG_052804.1:g.842G>C, NG_052804.1:g.842G>T, NC_000022.11:g.24419438G>C, rs7284907, 7284907 +PA166156122 rs5761122 PA41 GRK3 NC_000022.11:25563342 1 0 0 0 0 XR_938091.1:n.804+748T>C, NC_000022.10:g.25959309A>T, XR_158960.4:n.930T>C, XR_938092.1:n.553T>C, NC_000022.11:g.25563342A>T, NM_005160.3:c.-1699A>G, NC_000022.10:g.25959309A>C, NC_000022.11:g.25563342=, NC_000022.11:g.25563342A>C, NC_000022.10:g.25959309=, NC_000022.11:g.25563342A>G, NC_000022.10:g.25959309A>G, 60497995, XM_011529974.1:c.30-41035A>G, 5761122, rs5761122, XR_938089.1:n.936T>C, XM_006724158.1:c.-1961A>G, rs60497995, 7284452, rs7284452, XR_938094.1:n.612T>C, XR_158960.2:n.827T>C, XR_937823.1:n.-1686A>G, XR_938090.1:n.936T>C, XM_011529973.1:c.30-41035A>G, XR_938093.1:n.615T>C +PA166153577 rs576523 NC_000001.11:160776286 1 0 0 0 0 rs576523, rs58334060, XR_922204.1:n.447C>T, rs57939783, NC_000001.10:g.160746076G>A, NC_000001.11:g.160776286=, rs56592820, NC_000001.10:g.160746076G>C, XR_922205.1:n.414+33C>T, NC_000001.11:g.160776286G>T, XR_922206.1:n.447C>T, NC_000001.10:g.160746076=, 58334060, 576523, 56592820, NC_000001.10:g.160746076G>T, 57939783, NC_000001.11:g.160776286G>A, NC_000001.11:g.160776286G>C +PA166156123 rs5768434 PA134887312 TAFA5 NC_000022.11:48203040 1 0 0 0 0 NC_000022.10:g.48598852C>T, NC_000022.11:g.48203040C>T, NC_000022.10:g.48598852C>A, rs5768434, 5768434, NC_000022.10:g.48598852=, NC_000022.11:g.48203040C>A, NC_000022.11:g.48203040= +PA166210013 rs576859 PA134926032,PA164726611 MED19,TMX2 NC_000011.10:57713151 1 1 0 0 0 NG_052993.1:g.5629C>G, NC_000011.9:g.57480623C>A, NC_000011.9:g.57480623=, 59349429, rs576859, NC_000011.10:g.57713151=, NC_000011.10:g.57713151C>A, 59336933, 576859, 1262280, NC_000011.10:g.57713151C>G, NC_000011.9:g.57480623C>G, NG_052993.1:g.5629=, NG_052993.1:g.5629C>A +PA166203424 rs577001 PA30605 TAB2 NC_000006.12:149325172 2 1 0 0 0 NC_000006.11:g.149646308C>G, NC_000006.11:g.149646308C>T, NC_000006.12:g.149325172C>T, NC_000006.11:g.149646308=, NC_000006.12:g.149325172=, NG_021386.2:g.112249C>G, rs577001, 61707993, NG_021386.2:g.112249C>T, NC_000006.12:g.149325172C>G, NG_021386.2:g.112249=, 577001 +PA166208144 rs57700608 PA124 CYP2C19 NC_000010.11:94780544 1 0 0 0 0 57700608, NC_000010.11:g.94780544A>G, NG_008384.3:g.22864=, NP_000760.1:p.Asn176=, rs57700608, NG_008384.3:g.22864A>G, NC_000010.10:g.96540301A>G, NC_000010.10:g.96540301=, NC_000010.11:g.94780544=, NP_000760.1:p.Asn176Ser +PA166163566 rs57731889 PA162399233 PEAR1 NC_000001.11:156912469 1 1 0 0 0 rs57731889, NC_000001.11:g.156912469=, NC_000001.10:g.156882261C>T, 57731889, NC_000001.10:g.156882261=, NC_000001.11:g.156912469C>T +PA166176216 rs57837628 PA121 CYP2A6 NC_000019.10:40852005 1 0 0 0 0 NG_055456.1:g.1680=, NG_008377.1:g.3443T>C, NC_000019.9:g.41357910=, NG_008377.1:g.3443=, NC_000019.10:g.40852005=, NC_000019.10:g.40852005A>G, NC_000019.9:g.41357910A>G, rs57837628, NG_055456.1:g.1680A>G, 57837628 +PA166156929 rs578427 NC_000006.12:91702432 3 1 0 0 0 rs578427, 578427, 60408035, rs60408035, 16884708, NC_000006.12:g.91702432C>T, rs16884708, NC_000006.12:g.91702432=, NC_000006.11:g.92412150=, NC_000006.11:g.92412150C>T, rs1770148, 1770148 +PA166154840 rs578776 PA113,PA26491 CHRNA3,CHRNA5 NC_000015.10:78596058 13 3 0 0 0 NC_000015.10:g.78596058=, XM_006720382.1:c.*546C>T, rs578776, NG_023328.1:g.35539G>A, NR_046313.1:n.2083+482C>T, NG_023328.1:g.35539G>C, rs57549958, NM_000743.4:c.*546C>T, rs386599954, NG_016143.1:g.30238C>T, 578776, NC_000015.10:g.78596058G>C, NM_001166694.1:c.1390-2867C>T, 386599954, NC_000015.9:g.78888400G>C, NG_016143.1:g.30238=, 57549958, NG_023328.1:g.35539=, NC_000015.9:g.78888400G>A, NC_000015.9:g.78888400=, NC_000015.10:g.78596058G>A, XM_011521173.1:c.*546C>T, NG_016143.1:g.30238C>G +PA166157696 rs5788 PA24346 PTGS1 NC_000009.12:122381513 1 0 0 0 0 XP_011517177.1:p.Gly188=, rs2229250, NC_000009.12:g.122381513=, NP_001258094.1:p.Gly104=, 2229250, NM_001271368.1:c.564C>A, NP_001258095.1:p.Gly104=, NP_001258296.1:p.Gly104=, 4987006, NG_032900.1:g.15564=, rs4987006, NM_001271367.1:c.312C>A, NP_001258297.1:p.Gly188=, XP_011517178.1:p.Gly104=, XM_005252106.1:c.312C>A, rs57161162, NM_001271166.1:c.312C>A, NP_000953.2:p.Gly213=, NM_000962.2:c.639C>A, XP_005252163.1:p.Gly104=, rs5788, XM_005252105.2:c.564C>A, XM_011518876.1:c.312C>A, rs4134741, NG_032900.1:g.15564C>A, XM_005252104.1:c.564C>A, 4134741, 57161162, NM_001271165.1:c.312C>A, NC_000009.12:g.122381513C>A, NM_080591.2:c.639C>A, NP_001258093.1:p.Gly165=, NC_000009.11:g.125143792=, XM_005252105.1:c.564C>A, XP_005252162.1:p.Gly188=, XP_005252161.1:p.Gly188=, rs3842793, 3842793, NC_000009.11:g.125143792C>A, NM_001271164.1:c.495C>A, NP_542158.1:p.Gly213=, NM_000962.3:c.639C>A, 5788, XM_011518875.1:c.564C>A +PA166157697 rs5789 PA24346 PTGS1 NC_000009.12:122381694 2 0 0 0 0 XM_005252105.2:c.634C>A, NC_000009.11:g.125143973=, NP_000953.2:p.Leu237=, XP_011517177.1:p.Leu212Met, XM_005252104.1:c.634C>A, XP_005252161.1:p.Leu212Met, 4987007, NC_000009.12:g.122381694=, NC_000009.12:g.122381694C>A, rs4987007, NG_032900.1:g.15745C>A, NM_001271165.1:c.382C>A, NC_000009.11:g.125143973C>A, XM_011518875.1:c.634C>A, XP_005252163.1:p.Leu128Met, NP_542158.1:p.Leu237Met, NM_080591.2:c.709C>A, rs5789, NP_001258297.1:p.Leu212Met, NM_001271166.1:c.382C>A, NM_001271164.1:c.565C>A, NM_001271367.1:c.382C>A, NM_001271368.1:c.634C>A, NP_000953.2:p.Leu237Met, NP_001258093.1:p.Leu189Met, XM_005252106.1:c.382C>A, XP_005252162.1:p.Leu212Met, rs57008519, XM_011518876.1:c.382C>A, XP_011517178.1:p.Leu128Met, NM_000962.3:c.709C>A, NP_001258095.1:p.Leu128Met, XM_005252105.1:c.634C>A, NG_032900.1:g.15745=, 3842796, rs3842796, NP_001258094.1:p.Leu128Met, NP_001258296.1:p.Leu128Met, 5789, 57008519, NM_000962.2:c.709C>A +PA166192823 rs57918000 PA145 DPYD NC_000001.11:97549713 0 0 0 1 0 NC_000001.10:g.98015269=, 61730902, NC_000001.11:g.97549713G>A, NP_000101.2:p.Asn457=, 57918000, NG_008807.2:g.376347=, NC_000001.11:g.97549713=, rs57918000, NC_000001.10:g.98015269G>A, 199469536, NG_008807.2:g.376347C>T +PA166176324 rs580253 PA26083 CASP1 NC_000011.10:105029761 2 0 0 0 0 117470108, NC_000011.10:g.105029761=, NC_000011.10:g.105029761G>A, 17447167, NG_029124.2:g.10370=, NG_029124.1:g.10370C>T, NC_000011.9:g.104900488=, rs580253, NG_029124.1:g.10370=, NC_000011.9:g.104900488G>A, NG_029124.2:g.10370C>T, NP_001214.1:p.Leu235=, 580253 +PA166177140 rs58042962 PA38265 MIEF2 NC_000017.11:18266633 1 1 0 0 0 rs58042962, 58042962, NC_000017.11:g.18266633A>G, NC_000017.10:g.18169947=, 74255345, NC_000017.11:g.18266633A>T, NC_000017.11:g.18266633=, NC_000017.10:g.18169947A>G, NC_000017.10:g.18169947A>T +PA166153578 rs581111 PA31942 OPRD1 NC_000001.11:28848861 9 2 0 0 0 NM_000911.3:c.228-10093A>G, rs386600012, 9426304, NC_000001.11:g.28848861A>T, NC_000001.10:g.29175373A>T, rs581111, 59474409, rs9426304, NC_000001.10:g.29175373=, 386600012, NC_000001.11:g.28848861A>G, NC_000001.10:g.29175373A>C, NC_000001.11:g.28848861=, rs59474409, 581111, NC_000001.11:g.28848861A>C, NC_000001.10:g.29175373A>G +PA166208167 rs58259047 PA124 CYP2C19 NC_000010.11:94820581 2 0 0 0 0 NC_000010.10:g.96580338C>T, NG_008384.3:g.62901C>T, rs58259047, NC_000010.10:g.96580338=, NP_000760.1:p.Thr302Ile, NC_000010.11:g.94820581C>G, NC_000010.10:g.96580338C>G, 58259047, NG_008384.3:g.62901C>G, NP_000760.1:p.Thr302Arg, NC_000010.11:g.94820581=, NC_000010.11:g.94820581C>T, NG_008384.3:g.62901=, NP_000760.1:p.Thr302= +PA166184831 rs58310495 PA134865839 SLCO1B1 NC_000012.12:21204777 1 0 0 0 0 NC_000012.12:g.21204777C>G, NC_000012.12:g.21204777C>T, NC_000012.11:g.21357711C>T, NG_011745.1:g.78584C>G, NC_000012.12:g.21204777=, NC_000012.11:g.21357711=, NC_000012.11:g.21357711C>G, NG_011745.1:g.78584C>T, NG_011745.1:g.78584=, 58310495, rs58310495 +PA166180110 rs583664 PA31945 OPRM1 NC_000006.12:154120092 1 0 0 0 0 NG_021208.2:g.114592T>C, rs583664, NG_021208.2:g.114592=, NC_000006.11:g.154441227=, 583664, NC_000006.12:g.154120092=, NC_000006.11:g.154441227T>C, 17174956, 58161583, NC_000006.12:g.154120092T>C +PA166179177 rs5836788 NC_000002.12:181437035 1 0 0 0 0 5836788, rs5836788, NC_000002.11:g.182301762del, 144093664, NC_000002.12:g.181437035del, NC_000002.12:g.181437035=, NC_000002.11:g.182301762= +PA166155511 rs58425034 PA123 CYP2B6 2 1 0 0 0 NG_007929.1:g.22762G>C, NC_000019.10:g.41009060G>C, NC_000019.9:g.41514965G>C, 58425034, XM_011526547.1:c.646-159G>C, XM_011526549.1:c.55-159G>C, XM_005258569.3:c.646-159G>C, XM_005258569.1:c.646-159G>C, XM_005258571.1:c.365-3238G>C, NM_000767.4:c.646-159G>C, XM_005258570.1:c.646-159G>C, XM_006723050.2:c.646-159G>C, XM_011526548.1:c.485-3238G>C, rs58425034, XM_011526546.1:c.646-159G>C, XM_011526550.1:c.365-3238G>C +PA166156405 rs5853517 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151339798 2 0 0 0 0 XM_011512388.1:c.2251-10262del, rs61258357, NG_016019.1:g.49959_49960=, XM_011512391.1:c.1981-10262del, NC_000003.11:g.151057585_151057586=, XM_011512395.1:c.2251-10262del, NM_053002.5:c.2146-10262delT, NC_000003.12:g.151339797delT, 62925561, rs36034530, 869089115, XM_011512394.1:c.2251-10262del, 371514260, rs138705134, XM_011512393.1:c.2251-10262del, XM_011512399.1:c.2251-10262del, 372790921, NC_000003.12:g.151339798del, NG_016019.1:g.49960del, rs5853517, NC_000003.12:g.151339797_151339798=, NC_000003.11:g.151057585delT, NM_022788.4:c.-15+799delA, NM_176876.2:c.-15+799del, 138705134, 5853517, NC_000003.11:g.151057586del, XM_011512396.1:c.676-10262del, NG_021244.1:g.257911del, XM_011512390.1:c.2146-10262del, XM_011512389.1:c.2146-10262del, XM_006713487.2:c.2251-10262del, NM_022788.4:c.-15+799del, XM_011512392.1:c.1795-10262del, XM_005247096.1:c.2251-10262delT, rs371514260, XM_011512387.1:c.2251-10262del, NM_176876.2:c.-15+799delA, 869198846, rs372790921, 61258357, NM_053002.5:c.2146-10262del, NG_016019.1:g.49960delA, XM_011512386.1:c.2251-10262del, XM_011512398.1:c.46-10262del, rs62925561, NG_021244.1:g.257910_257911=, 36034530, NG_021244.1:g.257910delT +PA166185584 rs58542926 PA36562 TM6SF2 NC_000019.10:19268740 1 0 0 0 0 NC_000019.10:g.19268740C>T, NC_000019.10:g.19268740=, NP_001001524.2:p.Glu167Lys, NP_001001524.2:p.Glu167=, rs58542926, NC_000019.9:g.19379549C>T, 58542926, NC_000019.9:g.19379549= +PA166154681 rs585719 NC_000013.11:46482264 1 1 0 0 0 12873693, 56639674, 17068215, rs61175516, 61175516, rs56639674, NC_000013.10:g.47056399C>T, NC_000013.11:g.46482264=, NC_000013.10:g.47056399=, rs12873693, 585719, rs17068215, NC_000013.11:g.46482264C>T, rs585719 +PA166155889 rs58597806 PA37174,PA37183,PA419 UGT1A10,UGT1A8,UGT1A9 NC_000002.12:233672700 1 1 0 0 0 NC_000002.11:g.234581346=, NP_066307.1:p.Asp256=, NG_002601.2:g.87957=, 58597806, XR_241241.1:n.852G>A, NP_066307.1:p.Asp256Asn, NC_000002.11:g.234581346G>A, NM_019075.2:c.855+35323G>A, NM_019076.4:c.855+54138G>A, rs58597806, NG_002601.2:g.87957G>A, NC_000002.12:g.233672700=, NC_000002.12:g.233672700G>A, NM_021027.2:c.766G>A +PA166162409 rs586339 PA164721403 KDM4A NC_000001.11:43671586 1 0 0 0 0 NC_000001.10:g.44137257C>G, NP_055478.2:p.Ala482=, NP_055478.2:p.Ala482Gly, 17401253, NC_000001.10:g.44137257C>A, NC_000001.11:g.43671586C>T, 52815218, NC_000001.11:g.43671586=, NP_055478.2:p.Ala482Glu, NC_000001.10:g.44137257=, NC_000001.11:g.43671586C>G, NC_000001.10:g.44137257C>T, rs586339, NC_000001.11:g.43671586C>A, 586339, 17856066, NP_055478.2:p.Ala482Val +PA166154283 rs586773 PA37165 UCP2 NC_000011.10:73985565 1 0 0 0 0 NG_011478.1:g.2280T>A, NC_000011.9:g.73696610A>T, NC_000011.10:g.73985565=, NG_011478.1:g.2280T>C, NC_000011.10:g.73985565A>C, NC_000011.9:g.73696610A>G, NC_000011.9:g.73696610=, rs586773, NC_000011.9:g.73696610A>C, rs59870849, NC_000011.10:g.73985565A>G, NC_000011.10:g.73985565A>T, 59870849, NG_011478.1:g.2280T>G, 586773, NG_011478.1:g.2280= +PA166178400 rs58695150 PA134877725,PA33313 MAST3,PIK3R2 NC_000019.10:18151561 1 1 0 0 0 58695150, NC_000019.9:g.18262371=, NG_033010.2:g.3384C>T, NC_000019.9:g.18262371C>A, NG_033010.1:g.3384C>T, NC_000019.10:g.18151561C>T, NC_000019.10:g.18151561C>A, rs58695150, NC_000019.9:g.18262371C>T, NG_033010.1:g.3384C>A, NG_033010.1:g.3384=, NC_000019.10:g.18151561=, NG_033010.2:g.3384C>A, NG_033010.2:g.3384= +PA166249301 rs58700372 PA26669 CNNM2 NC_000010.11:103040448 1 0 0 0 0 NC_000010.10:g.104800205=, rs58700372, NC_000010.11:g.103040448T>C, NG_031932.1:g.127131T>C, 58700372, NC_000010.10:g.104800205T>C, NG_031932.1:g.127131=, NC_000010.11:g.103040448= +PA166201501 rs5877 PA35026 SERPINC1 NC_000001.11:173909724 1 1 0 0 0 NG_012462.1:g.12655A>G, 117504102, NC_000001.10:g.173878862T>C, NP_000479.1:p.Val327=, NG_012462.1:g.12655=, NC_000001.11:g.173909724T>A, rs5877, 3189866, NC_000001.11:g.173909724T>C, NG_012462.1:g.12655A>T, NC_000001.11:g.173909724=, NC_000001.10:g.173878862=, NC_000001.10:g.173878862T>A, 5877, 56765643 +PA166182585 rs587783672 PA217 KCNJ11 NC_000011.10:17387413 1 0 0 0 0 NC_000011.10:g.17387413=, NP_000516.3:p.Glu227Lys, rs587783672, NC_000011.10:g.17387413C>T, NC_000011.9:g.17408960C>T, NP_000516.3:p.Glu227=, 587783672, NG_012446.1:g.6247G>A, NC_000011.9:g.17408960=, NG_012446.1:g.6247= +PA166154284 rs588076 PA33287 PICALM NC_000011.10:85980619 1 1 0 0 0 XM_005274333.2:c.1629+510C>G, XM_005274335.2:c.1614+510C>G, NM_001008660.2:c.1629+510C>G, XM_011545293.1:c.1521+510C>G, XM_005274328.2:c.1764+510C>G, XM_005274330.2:c.1629+510C>G, XM_005274325.1:c.1764+510C>G, XM_005274325.2:c.1764+510C>G, XM_005274331.1:c.1779+510C>G, NG_028942.1:g.94262=, XM_005274336.1:c.1614+510C>G, 1972098, 56629343, XM_005274332.2:c.1614+510C>G, XM_005274326.2:c.1779+510C>G, NC_000011.9:g.85691662G>T, XM_005274337.1:c.1779+510C>G, rs1972098, 58840284, XM_006718701.2:c.1758+510C>G, NG_028942.1:g.94262C>A, XM_006718700.2:c.1743+510C>G, XM_005274324.1:c.1779+510C>G, rs588076, XM_005274327.1:c.1779+510C>G, XM_005274328.1:c.1764+510C>G, NC_000011.10:g.85980619=, XM_005274332.1:c.1614+510C>G, XM_005274339.1:c.1476+510C>G, NM_001206947.1:c.1476+510C>G, XM_005274338.1:c.1422+510C>G, NG_028942.1:g.94262C>T, XM_005274327.2:c.1779+510C>G, XM_005274324.2:c.1779+510C>G, XM_005274340.2:c.1629+510C>G, NG_028942.1:g.94262C>G, NM_001206946.1:c.1758+510C>G, XM_005274335.1:c.1614+510C>G, XM_005274322.1:c.1779+510C>G, XM_005274323.2:c.1764+510C>G, XM_005274334.1:c.1764+510C>G, NC_000011.10:g.85980619G>C, NC_000011.9:g.85691662=, NC_000011.10:g.85980619G>A, XM_005274329.2:c.1764+510C>G, rs56629343, NM_007166.3:c.1779+510C>G, 588076, NC_000011.10:g.85980619G>T, XM_005274340.1:c.1629+510C>G, XM_005274337.2:c.1779+510C>G, XM_005274322.2:c.1779+510C>G, XM_005274323.1:c.1764+510C>G, XM_005274334.2:c.1764+510C>G, XM_005274330.1:c.1629+510C>G, XM_005274333.1:c.1629+510C>G, rs58840284, NC_000011.9:g.85691662G>A, NC_000011.9:g.85691662G>C, XM_005274331.2:c.1779+510C>G, XM_005274336.2:c.1614+510C>G, XM_005274326.1:c.1779+510C>G, XM_005274329.1:c.1764+510C>G, XM_006718699.2:c.1758+510C>G +PA166156688 rs58818712 PA390 ABCG2 NC_000004.12:88097526 1 1 0 0 0 XM_005263355.1:c.1574T>G, NP_004818.2:p.Leu525Arg, XM_005263354.1:c.1574T>G, NG_032067.2:g.138797=, NC_000004.12:g.88097526A>C, XP_005263412.1:p.Leu525Arg, NG_032067.2:g.138797T>G, NM_004827.2:c.1574T>G, NM_001257386.1:c.1574T>G, XM_005263356.2:c.1568T>G, XM_005263354.2:c.1574T>G, 61735384, NP_004818.2:p.Leu525=, XM_011532420.1:c.1574T>G, NC_000004.11:g.89018678=, XM_005263355.2:c.1574T>G, 58818712, NC_000004.12:g.88097526=, NP_001244315.1:p.Leu525Arg, rs58818712, NC_000004.11:g.89018678A>C, XP_005263411.1:p.Leu525Arg, rs61735384, XP_011530722.1:p.Leu525Arg, XM_005263356.1:c.1568T>G, XP_005263413.1:p.Leu523Arg +PA166154975 rs5882 PA108 CETP NC_000016.10:56982180 3 3 0 0 0 rs3192075, 3192075, NP_000069.2:p.Val422Ile, 5882, NC_000016.9:g.57016092G>C, NC_000016.9:g.57016092G>A, rs1801707, 1801707, NM_000078.2:c.1264G>A, rs12720881, rs1613122, 1613122, 289738, NP_000069.2:p.Val422Leu, NC_000016.10:g.56982180=, XP_005255833.1:p.Val362Ile, rs17231896, rs17858738, 61212082, rs17845778, NP_000069.2:p.Val422=, 17231896, 17858738, NP_001273014.1:p.Val362Ile, XM_005255776.1:c.1084G>A, 17414131, rs5882, NG_008952.1:g.25258G>A, NG_008952.1:g.25258=, rs61212082, rs1131843, 1131843, NG_008952.1:g.25258G>C, 17845778, NC_000016.9:g.57016092=, NC_000016.10:g.56982180G>C, NC_000016.10:g.56982180G>A, rs17414131, NM_001286085.1:c.1084G>A, rs289738, 12720881 +PA166154976 rs5883 PA108 CETP NC_000016.10:56973441 2 0 0 0 0 NC_000016.9:g.57007353C>T, NM_000078.2:c.861C>T, 12720934, NP_000069.2:p.Phe287=, 5883, 17245729, 60749799, rs5883, NC_000016.10:g.56973441C>T, NM_001286085.1:c.750+1358C>T, XM_005255776.1:c.750+1358C>T, rs12720934, NC_000016.9:g.57007353=, NG_008952.1:g.16519=, rs17245729, rs60749799, XM_006721124.2:c.*1222C>T, NC_000016.10:g.56973441=, NG_008952.1:g.16519C>T +PA166157409 rs5883064 PA165618182 HOTTIP NC_000007.14:27202260_27202263 1 0 0 0 0 57119633, NG_046623.1:g.3918_3921=, NC_000007.13:g.27241879_27241880delCT, XR_242057.1:n.1250+473_1250+474delCT, rs376981414, rs10585733, 35545353, NC_000007.13:g.27241879_27241880CT[1], rs146691291, XM_011515344.1:c.-2184_-2183del, 144082126, NR_037843.3:n.1739_1740delCT, NG_008181.2:g.2844_2845AG[1], 72600806, rs33960115, NG_046623.1:g.3918_3919CT[1], rs144082126, rs35545353, NC_000007.13:g.27241879_27241882=, rs148437096, 10585733, NC_000007.14:g.27202260_27202261CT[1], NG_008181.1:g.2844_2845AG[1], rs5883064, 146691291, 33960115, NG_008181.2:g.2844_2847=, NG_008181.1:g.2844_2847=, rs57119633, NC_000007.14:g.27202260_27202261delCT, 376981414, NC_000007.14:g.27202260_27202263=, 5883064, rs5883065, 5883065, NG_008181.1:g.2846_2847delAG, 148437096 +PA166285401 rs58847127 PA205 ITGB3 NC_000017.11:47257956 1 0 0 0 0 NG_008332.2:g.9115G>A, NC_000017.11:g.47257956G>T, NG_008332.2:g.9115=, NG_008332.2:g.9115G>C, NC_000017.10:g.45335322G>T, NC_000017.11:g.47257956G>A, rs58847127, NC_000017.10:g.45335322=, NC_000017.11:g.47257956=, NG_008332.2:g.9115G>T, NC_000017.11:g.47257956G>C, NC_000017.10:g.45335322G>A, NC_000017.10:g.45335322G>C, 58847127 +PA166290043 rs58871670 PA123 CYP2B6 NC_000019.10:41006967 2 0 0 0 0 NG_007929.1:g.20669=, NP_000758.1:p.Val183Ile, NC_000019.10:g.41006967=, NP_000758.1:p.Val183=, 61735102, 58871670, rs58871670, NC_000019.9:g.41512872=, NC_000019.10:g.41006967G>A, NC_000019.9:g.41512872G>A, NG_007929.1:g.20669G>A +PA166154841 rs588765 PA26491 CHRNA5 NC_000015.10:78573083 11 2 0 0 0 NG_023328.1:g.12564T>C, 588765, 56956373, NG_023328.1:g.12564=, NG_023328.1:g.12564T>A, NC_000015.10:g.78573083=, XM_011521174.1:c.106+7258T>C, NC_000015.9:g.78865425T>A, NC_000015.10:g.78573083T>A, NG_023328.1:g.12564T>G, NC_000015.10:g.78573083T>C, rs588765, NC_000015.10:g.78573083T>G, XM_005254142.1:c.106+7258T>C, XM_005254142.2:c.106+7258T>C, NM_000745.3:c.106+7258T>C, NC_000015.9:g.78865425T>C, NC_000015.9:g.78865425=, NM_001307945.1:c.106+7258T>C, NC_000015.9:g.78865425T>G, rs56956373 +PA166154488 rs5888 PA97 SCARB1 NC_000012.12:124800202 3 1 0 0 0 XP_005253693.1:p.Ala350=, NG_028199.1:g.68772=, NG_028199.1:g.68772T>A, NG_028199.1:g.68772T>C, rs57373148, 1623782, NC_000012.11:g.125284748=, 3200084, rs3200084, rs2070240, rs838914, 2070240, XM_005253635.1:c.927T>C, XP_005253690.1:p.Ala350=, rs5888, 57373148, NC_000012.12:g.124800202=, rs1059405, NC_000012.12:g.124800202A>G, NM_001082959.1:c.1050T>C, XP_005253694.1:p.Ala313=, rs1623782, XM_005253636.1:c.1050T>C, 12827679, NC_000012.11:g.125284748A>T, XM_005253633.1:c.1050T>C, 838914, 1059405, NC_000012.12:g.124800202A>T, rs17694811, rs12827679, NP_005496.4:p.Ala350=, XM_005253637.1:c.939T>C, XP_005253692.1:p.Ala309=, NC_000012.11:g.125284748A>G, XP_005253691.1:p.Ala309=, XM_005253634.1:c.927T>C, 5888, NM_005505.4:c.1050T>C, 17694811, NP_001076428.1:p.Ala350= +PA166177794 rs589046 PA31945 OPRM1 NC_000006.12:154072003 3 2 0 0 0 NC_000006.11:g.154393138C>T, 60586556, NG_021208.2:g.66503=, NC_000006.12:g.154072003=, NG_021208.2:g.66503C>T, 589046, 386600250, NC_000006.11:g.154393138=, rs589046, 17174715, NC_000006.12:g.154072003C>T +PA166154257 rs5896 PA157 F2 NC_000011.10:46723453 4 0 0 0 0 NG_008953.1:g.9261C>T, 60714661, NC_000011.10:g.46723453C>G, XR_428840.2:n.538C>T, NM_001311257.1:c.446C>T, 17645388, NG_008953.1:g.9261=, NC_000011.9:g.46745003C>G, NC_000011.10:g.46723453C>T, NC_000011.9:g.46745003=, NP_001298186.1:p.Thr149Met, NP_000497.1:p.Thr165Arg, rs60714661, NM_000506.4:c.494C>T, 3136453, NG_008953.1:g.9261C>G, rs3136453, rs5896, NP_000497.1:p.Thr165Met, NC_000011.10:g.46723453=, 5896, NC_000011.9:g.46745003C>T, NP_000497.1:p.Thr165=, rs17645388 +PA166154187 rs58973490 PA124 CYP2C19 NC_000010.11:94775507 674 49 49 0 0 NG_008384.3:g.17827=, NC_000010.11:g.94775507=, NM_000769.1:c.449G>A, 58973490, NC_000010.11:g.94775507G>A, NP_000760.1:p.Arg150His, rs58973490, NG_008384.3:g.17827G>A, NM_000769.2:c.449G>A, NC_000010.10:g.96535264G>A, NC_000010.10:g.96535264=, NG_008384.2:g.17802G>A, NP_000760.1:p.Arg150= +PA166157882 rs5906072 NC_000023.11:45781104 1 0 0 0 0 NC_000023.10:g.45640507T>G, rs59105359, NC_000023.10:g.45640507=, rs59017433, rs5906072, 5906072, rs6609373, 6609373, NC_000023.11:g.45781104T>G, 59017433, 59105359, NC_000023.11:g.45781104=, NC_000023.10:g.45640507T>C, NW_004070879.1:g.105769T>C, NC_000023.11:g.45781104T>C +PA166153891 rs59086055 PA145 DPYD NC_000001.11:97450190 3 2 0 1 0 XP_006710460.1:p.Arg592Trp, NC_000001.10:g.97915746G>A, NG_008807.2:g.475870=, XP_005270620.1:p.Arg592Trp, rs59086055, XM_006710397.2:c.1774C>T, NC_000001.11:g.97450190=, XM_005270561.1:c.1663C>T, XM_005270562.1:c.1558C>T, NP_000101.2:p.Arg592=, XM_005270563.1:c.1774C>T, NC_000001.10:g.97915746=, NP_000101.2:p.Arg592Trp, XM_005270562.3:c.1558C>T, NC_000001.11:g.97450190G>A, XP_005270619.1:p.Arg520Trp, XP_005270618.1:p.Arg555Trp, XP_005270619.2:p.Arg520Trp, NG_008807.2:g.475870C>T, NM_000110.3:c.1774C>T, 59086055 +PA166154474 rs59172778 PA213 KCNJ1 NC_000011.10:128839231 2 0 0 0 0 NM_153764.2:c.1013T>C, NP_722449.3:p.Met355Thr, 62625013, NP_722451.1:p.Met338Thr, NP_000211.1:p.Met357=, NP_722450.1:p.Met338Thr, NM_153765.2:c.1064T>C, NG_009379.1:g.33143T>C, NM_153767.3:c.1013T>C, 59172778, NC_000011.10:g.128839231=, NP_000211.1:p.Met357Thr, NC_000011.10:g.128839231A>G, NC_000011.9:g.128709126=, NM_000220.4:c.1070T>C, NC_000011.9:g.128709126A>G, NP_722448.1:p.Met338Thr, NG_009379.1:g.33143=, NM_153766.2:c.1013T>C, rs59172778, rs62625013 +PA166154285 rs591758 PA37165 UCP2 NC_000011.10:73987015 1 0 0 0 0 NG_011478.1:g.830=, rs58859716, 591758, NG_011478.1:g.830C>T, NC_000011.9:g.73698060G>C, NC_000011.9:g.73698060G>A, NC_000011.10:g.73987015G>A, NG_011478.1:g.830C>G, NC_000011.10:g.73987015G>C, rs591758, 58859716, NC_000011.9:g.73698060=, NC_000011.10:g.73987015= +PA166155152 rs5918 PA205 ITGB3 NC_000017.11:47283364 23 2 0 0 0 NC_000017.11:g.47283364T>C, NC_000017.10:g.45360730=, NC_000017.11:g.47283364=, NG_008332.2:g.34523=, 5918, NG_008332.2:g.34523T>C, NM_000212.2:c.176T>C, NP_000203.2:p.Leu59Pro, NP_000203.2:p.Leu59=, rs5918, NC_000017.10:g.45360730T>C +PA166155340 rs5925 PA227 LDLR NC_000019.10:11120205 3 1 0 0 0 XP_005259966.1:p.Val532=, NM_001195798.1:c.1959T>C, XP_011526312.1:p.Val653=, 17851179, rs17242555, 57369606, NC_000019.9:g.11230881=, NC_000019.9:g.11230881T>C, XP_011526313.1:p.Val526=, NP_001182729.1:p.Val485=, rs57369606, NC_000019.10:g.11120205=, NG_009060.1:g.35825T>C, NP_001182727.1:p.Val653=, XM_011528011.1:c.1578T>C, NM_000527.4:c.1959T>C, NP_000518.1:p.Val653=, rs5925, XR_244074.1:n.1969T>C, 17242555, NM_001195803.1:c.1578T>C, NC_000019.10:g.11120205T>C, NM_001195800.1:c.1455T>C, rs17678307, NP_001182728.1:p.Val612=, XM_011528010.1:c.1959T>C, XM_005259909.1:c.1596T>C, NP_001182732.1:p.Val526=, rs17851179, XR_244074.2:n.1969T>C, 17678307, NG_009060.1:g.35825=, NM_001195799.1:c.1836T>C, 5925 +PA166157883 rs5925720 PA134863598 DDX53 NC_000023.11:23001200 1 0 0 0 0 NG_021439.1:g.6231G>T, rs5925720, NC_000023.11:g.23001200G>T, 5925720, NP_874358.2:p.Met381Ile, 58250497, NP_874358.2:p.Met381=, rs58250497, NG_021439.1:g.6231=, NC_000023.10:g.23019317G>T, NR_073010.1:n.343+62838C>A, NG_021439.1:g.6231G>C, NM_182699.3:c.1143G>T, NC_000023.11:g.23001200G>C, NC_000023.10:g.23019317=, NC_000023.11:g.23001200=, NC_000023.10:g.23019317G>C +PA166279691 rs59322119 PA121 CYP2A6 NC_000019.10:40843750 52 6 6 0 0 NC_000019.10:g.40843750del, NC_000019.10:g.40843748_40843750=, NC_000019.9:g.41349653_41349655=, rs59322119, NC_000019.9:g.41349655del, 59322119, NG_008377.1:g.11698_11700=, NG_008377.1:g.11700del +PA166157884 rs5934731 PA166180593 CLDN34 NC_000023.11:9967804 1 0 0 0 0 NP_001182010.1:p.Tyr149=, rs56455686, 5934731, XP_006724511.2:p.Tyr193=, rs57784312, NC_000023.10:g.9935844=, 56455686, NC_000023.11:g.9967804C>T, NC_000023.10:g.9935844C>T, NC_000023.11:g.9967804=, rs5934731, rs6640581, 6640581, XM_006724448.2:c.579C>T, 57784312, NM_001195081.1:c.447C>T +PA166156171 rs59421388 PA128 CYP2D6 NC_000022.11:42127608 27 7 7 0 0 NC_000022.10:g.42523610=, XM_005278354.1:c.712G>A, XM_011529968.1:c.1012G>A, XP_011528269.1:p.Val338Met, XM_011529966.1:c.1012G>A, XM_011529967.1:c.1012G>A, XP_011528274.1:p.Thr290=, NG_008376.3:g.7384G>A, NW_004504305.1:g.49935C>T, XP_011528272.1:p.Val287Met, NG_008376.3:g.7384=, NC_000022.10:g.42523610C>T, NG_008376.4:g.8203G>A, XM_005278353.1:c.868G>A, XM_011529972.1:c.870G>A, NG_008376.4:g.8203=, NC_000022.11:g.42127608=, XP_011546052.1:p.Val290Met, XM_011547750.1:c.868G>A, XP_011528270.1:p.Val338Met, NW_009646208.1:g.13174C>T, XM_011529970.1:c.859G>A, XP_011546053.1:p.Val266Met, NM_001025161.2:c.859G>A, NP_000097.3:p.Val338=, rs59421388, XM_011547751.1:c.796G>A, XM_011529971.1:c.868G>A, XM_005278354.3:c.712G>A, XP_005278410.1:p.Val290Met, NT_187682.1:g.49949C>T, XP_011528268.1:p.Val338Met, XM_011548819.1:c.*118G>A, NM_000106.5:c.1012G>A, NP_000097.3:p.Val338Met, XM_011529969.1:c.868G>A, XP_005278411.1:p.Val238Met, 59421388, XP_011528271.1:p.Val290Met, NP_001020332.2:p.Val287Met, NC_000022.11:g.42127608C>T, XM_011547541.1:c.*118G>A, XP_011528273.1:p.Val290Met, XR_952745.1:n.2027G>A +PA166155272 rs594445 PA134964534 MOCOS NC_000018.10:36251226 2 0 0 0 0 NP_060417.2:p.His703Asn, rs56434535, NC_000018.10:g.36251226=, NG_053177.1:g.69017C>T, rs3737372, rs57829177, 3737372, NG_053177.1:g.69017=, NC_000018.9:g.33831189C>T, 594445, 17790830, 57829177, NC_000018.10:g.36251226C>A, NC_000018.9:g.33831189=, NG_053177.1:g.69017C>A, 56434535, NC_000018.10:g.36251226C>T, NP_060417.4:p.His703=, NP_060417.4:p.His703Tyr, rs17790830, rs594445, NC_000018.9:g.33831189C>A, NM_017947.2:c.2107C>A, NP_060417.4:p.His703Asn +PA166156930 rs594709 PA329 SLC22A1 NC_000006.12:160134722 1 1 0 0 0 NC_000006.12:g.160134722=, 60201486, XM_005267104.1:c.263+597G>A, NM_003057.2:c.839+597G>A, XM_005267102.1:c.839+597G>A, XM_011536074.1:c.263+597G>A, rs594709, XM_005267102.3:c.839+597G>A, XM_005267104.3:c.263+597G>A, NM_153187.1:c.839+597G>A, rs60201486, NC_000006.11:g.160555754=, XM_005267103.1:c.839+597G>A, NC_000006.11:g.160555754G>A, XM_005267105.1:c.263+597G>A, NC_000006.12:g.160134722G>A, XM_006715552.1:c.839+597G>A, 594709, XM_005267105.3:c.263+597G>A +PA166207622 rs59485260 PA126 CYP2C9 NC_000010.11:94988896 1 0 0 0 0 NC_000010.11:g.94988896=, NC_000010.10:g.96748653=, NG_008385.2:g.55739A>C, 59485260, NC_000010.10:g.96748653A>C, NP_000762.2:p.Leu447=, NG_008385.2:g.55739=, NP_000762.2:p.Leu447Phe, rs59485260, NC_000010.11:g.94988896A>C, NG_008385.1:g.55239=, NG_008385.1:g.55239A>C +PA166154657 rs59502379 PA134865839 SLCO1B1 NC_000012.12:21205999 4 2 2 0 0 NM_006446.4:c.1463G>C, rs59502379, NG_011745.1:g.79806G>C, NC_000012.11:g.21358933=, NC_000012.12:g.21205999G>C, NP_006437.3:p.Gly488Ala, NC_000012.11:g.21358933G>C, NG_011745.1:g.79806=, 59502379, NC_000012.12:g.21205999=, NP_006437.3:p.Gly488= +PA166155512 rs59552350 PA121 CYP2A6 NC_000019.10:40848716 6 2 2 0 0 XP_005258625.1:p.Ser80Ala, rs59552350, NC_000019.9:g.41354621A>C, NM_000762.5:c.391T>G, NP_000753.3:p.Ser131Ala, NC_000019.10:g.40848716=, 59552350, NG_008377.1:g.6732=, NC_000019.10:g.40848716A>C, NG_008377.1:g.6732T>G, XM_005258568.1:c.238T>G, NC_000019.9:g.41354621=, NP_000753.3:p.Ser131= +PA166153579 rs595961 PA27693 AGO1 NC_000001.11:35902179 1 0 0 0 0 NC_000001.10:g.36367780A>T, NC_000001.11:g.35902179A>G, XM_011541236.1:c.1273-25A>G, XM_011541238.1:c.1039-25A>G, NC_000001.11:g.35902179A>T, XM_011541239.1:c.820-25A>G, 59876085, XM_011541237.1:c.1048-25A>G, NM_012199.4:c.1264-25A>G, 595961, XM_005270747.1:c.1039-25A>G, NM_001317123.1:c.1039-25A>G, NM_001317122.1:c.1264-25A>G, NC_000001.10:g.36367780A>G, rs59876085, NC_000001.10:g.36367780=, rs595961, XM_005270746.1:c.1246-25A>G, NC_000001.11:g.35902179= +PA166171038 rs59724122 PA27830 EPHX2 NC_000008.11:27567179 1 1 0 0 0 NC_000008.10:g.27424696C>T, NC_000008.11:g.27567179C>T, NC_000008.11:g.27567179=, 59724122, NC_000008.10:g.27424696=, rs59724122 +PA166208024 rs59734894 PA124 CYP2C19 NC_000010.11:94842860 1 0 0 0 0 NC_000010.10:g.96602617=, NC_000010.11:g.94842860C>T, NG_008384.3:g.85180=, NC_000010.10:g.96602617C>A, NP_000760.1:p.Arg329Ser, NP_000760.1:p.Arg329Cys, NG_008384.3:g.85180C>A, NC_000010.11:g.94842860C>A, NP_000760.1:p.Arg329=, rs59734894, NC_000010.11:g.94842860=, NC_000010.10:g.96602617C>T, NG_008384.3:g.85180C>T, 59734894 +PA166305082 rs59772174 NC_000004.12:96664375 1 0 0 0 0 NC_000004.11:g.97585526=, NC_000004.11:g.97585526C>T, NC_000004.12:g.96664375C>T, NC_000004.12:g.96664375=, 59772174, rs59772174 +PA166157885 rs5977250 PA35860 SLC25A14 NC_000023.11:130372418 1 0 0 0 0 XM_005262486.1:c.937-491T>C, 5977250, rs5977250, NG_012850.1:g.37346T>A, NG_012850.1:g.37346T>C, NM_001282198.1:c.832-491T>C, XR_244526.1:n.1005-491T>C, NM_003951.2:c.937-491T>C, XM_005262488.1:c.832-491T>C, rs7058122, 7058122, NG_012850.2:g.37346=, NC_000023.11:g.130372418T>A, NC_000023.10:g.129506392=, NC_000023.11:g.130372418T>C, NR_104107.1:n.865-491T>C, XM_005262485.1:c.1021-491T>C, XM_011531402.1:c.964-491T>C, XR_244527.1:n.1793-491T>C, NM_001282196.1:c.928-491T>C, rs60526084, NC_000023.11:g.130372418=, NG_012850.1:g.37346=, XM_005262489.3:c.634-491T>C, XM_005262487.1:c.928-491T>C, XM_005262489.1:c.634-491T>C, NM_022810.1:c.928-491T>C, 60526084, NM_001282195.1:c.937-491T>C, NM_001282197.1:c.1021-491T>C, NG_012850.2:g.37346T>C, NC_000023.10:g.129506392T>C, NG_012850.2:g.37346T>A, NC_000023.10:g.129506392T>A +PA166180115 rs598160 PA31945 OPRM1 NC_000006.12:154121008 1 0 0 0 0 NG_021208.2:g.115508G>C, 17276671, NC_000006.11:g.154442143=, NC_000006.11:g.154442143G>A, NC_000006.12:g.154121008=, NG_021208.2:g.115508G>A, 17181394, NC_000006.11:g.154442143G>C, rs598160, 598160, NG_021208.2:g.115508=, NC_000006.12:g.154121008G>A, NC_000006.12:g.154121008G>C +PA166156902 rs5985 PA162 F13A1 NC_000006.12:6318562 6 2 0 0 0 NC_000006.12:g.6318562=, NC_000006.11:g.6318795C>A, NG_008107.1:g.7130G>A, rs60452761, NM_000129.3:c.103G>T, NC_000006.12:g.6318562C>T, NP_000120.2:p.Val35=, XM_006715010.2:c.103G>T, XP_006715073.1:p.Val35Leu, NG_008107.1:g.7130=, 60452761, NG_008107.1:g.7130G>T, NC_000006.11:g.6318795=, NC_000006.11:g.6318795C>T, rs5985, NC_000006.12:g.6318562C>A, 5985, XP_011512644.1:p.Val89Leu, NP_000120.2:p.Val35Leu, NP_000120.2:p.Val35Met, XM_011514342.1:c.265G>T +PA166183694 rs598682 PA31945 OPRM1 NC_000006.12:154097624 1 0 0 0 0 NG_021208.2:g.92124=, NC_000006.11:g.154418759=, NG_021208.2:g.92124A>T, NC_000006.12:g.154097624A>C, NC_000006.11:g.154418759A>T, 598682, NG_021208.2:g.92124A>C, NC_000006.12:g.154097624=, NG_021208.2:g.92124A>G, NC_000006.12:g.154097624A>T, NC_000006.12:g.154097624A>G, NC_000006.11:g.154418759A>G, rs598682, NC_000006.11:g.154418759A>C +PA166184276 rs598961 PA33129 PDE4B NC_000001.11:66353940 1 0 0 0 0 rs598961, NC_000001.11:g.66353940G>A, NC_000001.11:g.66353940G>C, NC_000001.11:g.66353940=, 58462804, NG_029038.1:g.566431G>A, NC_000001.10:g.66819623=, NC_000001.10:g.66819623G>C, NG_029038.1:g.566431=, 598961, NC_000001.10:g.66819623G>A, NG_029038.1:g.566431G>C +PA166180044 rs5993882 PA117 COMT NC_000022.11:19950010 2 0 0 0 0 NC_000022.10:g.19937533T>C, NC_000022.10:g.19937533T>G, NG_011526.1:g.13271T>G, NG_011526.1:g.13271T>C, NC_000022.11:g.19950010=, 8137376, NG_011526.1:g.13271=, rs5993882, 59140089, NC_000022.11:g.19950010T>G, 5993882, NC_000022.11:g.19950010T>C, NC_000022.10:g.19937533= +PA166161174 rs5993883 PA117 COMT NC_000022.11:19950115 1 1 0 0 0 6518595, NC_000022.10:g.19937638=, NC_000022.10:g.19937638T>G, NC_000022.11:g.19950115T>G, NG_011526.1:g.13376=, NG_011526.1:g.13376T>G, 5993883, rs5993883, 57863481, NC_000022.11:g.19950115= +PA166177406 rs5995355 NC_000022.11:36855419 1 0 0 0 0 NC_000022.11:g.36855419A>G, 56638138, NC_000022.10:g.37251461A>G, NC_000022.11:g.36855419A>T, NC_000022.11:g.36855419=, NC_000022.10:g.37251461A>T, rs5995355, 5995355, NC_000022.10:g.37251461= +PA166183693 rs599548 PA31945 OPRM1 NC_000006.12:154097426 1 0 0 0 0 56451627, NC_000006.12:g.154097426G>A, rs599548, NG_021208.2:g.91926=, NC_000006.11:g.154418561=, 599548, 3798684, NC_000006.12:g.154097426=, NG_021208.2:g.91926G>A, 45629475, NC_000006.11:g.154418561G>A +PA166181809 rs5995653 NC_000022.11:39008244 1 0 0 0 0 NC_000022.11:g.39008244=, 60367760, NC_000022.11:g.39008244G>A, rs5995653, NC_000022.10:g.39404249=, 5995653, NC_000022.10:g.39404249G>A +PA166156124 rs5996696 PA24584,PA165378332 ADORA2A,ADORA2A-AS1 NC_000022.11:24431654 1 0 0 0 0 NC_000022.10:g.24827622=, rs7288656, NR_103546.1:n.3906-1477A>C, 7288656, NC_000022.11:g.24431654A>C, NM_001278497.1:c.-1095A>C, NM_001278500.1:c.-274-1477A>C, NM_001278498.1:c.-989A>C, NG_052804.1:g.13058=, NR_028484.2:n.1007-92T>G, NC_000022.11:g.24431654=, NM_000675.5:c.-274-1477A>C, NM_001278499.1:c.-274-1477A>C, 5996696, rs5996696, NR_103543.1:n.185+3908A>C, NR_103544.1:n.165+3928A>C, NC_000022.10:g.24827622A>C, NG_052804.1:g.13058A>C +PA166156125 rs6001093 PA26953 CSNK1E NC_000022.11:38305388 1 0 0 0 0 NC_000022.10:g.38701393=, 61246311, XM_005261346.1:c.77-2140G>A, NC_000022.11:g.38305388=, rs35870804, NG_016707.1:g.17697G>T, NM_001894.4:c.77-2140G>A, rs61246311, NC_000022.10:g.38701393C>T, XM_005261343.1:c.77-2140G>A, NM_001289912.1:c.77-2140G>A, NG_016707.1:g.17697G>C, rs6001093, 6001093, NM_152221.2:c.77-2140G>A, NG_016707.1:g.17697G>A, 35870804, NG_016707.1:g.17697=, NC_000022.11:g.38305388C>A, NC_000022.11:g.38305388C>G, XM_005261344.1:c.77-2140G>A, NC_000022.10:g.38701393C>G, XM_005261345.1:c.77-2140G>A, NC_000022.11:g.38305388C>T, NC_000022.10:g.38701393C>A +PA166181829 rs6001366 NC_000022.11:39003936 1 0 0 0 0 rs6001366, NC_000022.11:g.39003936C>T, NC_000022.10:g.39399941C>G, NC_000022.10:g.39399941=, 6001366, NC_000022.11:g.39003936=, NC_000022.11:g.39003936C>G, NC_000022.10:g.39399941C>T +PA166156126 rs6002616 NC_000022.11:42108675 1 0 0 0 0 NG_001589.5:g.460=, NC_000022.10:g.42504679A>G, NC_000022.11:g.42108675=, NG_001589.5:g.460T>C, NT_187682.1:g.31020A>G, rs17383128, NC_000022.10:g.42504679=, NG_001589.4:g.535=, 6002616, rs6002616, 17383128, NW_003315971.2:g.31020A>G, NG_001589.4:g.535T>C, rs56835692, NW_009646207.1:g.23637A>G, NW_004504305.1:g.31020A>G, 56835692, 8141053, NR_034118.2:n.668-15372A>G, NR_034118.2:n.668-15373A>G, rs8141053, NC_000022.11:g.42108675A>G +PA166156127 rs6002674 NC_000022.11:42298214 1 1 0 0 0 NG_028982.3:g.50403A>G, NC_000022.10:g.42694220T>C, 6002674, rs6002674, 56710721, rs56710721, NC_000022.10:g.42694220=, NC_000022.11:g.42298214=, NC_000022.11:g.42298214T>C, NG_028982.3:g.50403= +PA166232249 rs6010717 PA162378956,PA31944 LKAAEAR1,OPRL1 NC_000020.11:64083430 1 0 0 0 0 rs6010717, NC_000020.10:g.62714783C>G, NC_000020.11:g.64083430C>T, NC_000020.11:g.64083430C>G, 6010717, NC_000020.10:g.62714783=, NC_000020.10:g.62714783C>T, NC_000020.10:g.62714783C>A, NC_000020.11:g.64083430=, NP_001007126.1:p.Ala226=, NC_000020.11:g.64083430C>A, 59789734 +PA166177057 rs6011280 PA34370 RGS19 NC_000020.11:64073787 1 0 0 0 0 NC_000020.10:g.62705140A>C, 6011280, NC_000020.11:g.64073787A>C, NC_000020.10:g.62705140=, rs6011280, NC_000020.11:g.64073787= +PA166153892 rs60139309 PA145 DPYD NC_000001.11:97193109 1 0 0 1 0 NC_000001.10:g.97658665T>C, NC_000001.11:g.97193109=, rs60139309, rs61730905, NC_000001.10:g.97658665=, XM_005270561.1:c.2471A>G, XM_006710397.2:c.2582A>G, XP_005270619.1:p.Lys789Arg, NR_046590.1:n.65-72305T>C, XP_005270619.2:p.Lys789Arg, 60139309, XM_005270562.1:c.2366A>G, NG_008807.2:g.732951=, XP_005270618.1:p.Lys824Arg, 61730905, NM_000110.3:c.2582A>G, NP_000101.2:p.Lys861=, XM_005270562.3:c.2366A>G, NP_000101.2:p.Lys861Arg, NG_008807.2:g.732951A>G, NC_000001.11:g.97193109T>C, XP_006710460.1:p.Lys861Arg +PA166230183 rs60140950 PA35844 SLCO1B3 NC_000012.12:20875274 1 1 0 0 0 NC_000012.11:g.21028208G>C, NP_062818.1:p.Gly256Ala, NC_000012.11:g.21028208=, 61736834, 60140950, NP_062818.1:p.Gly256=, NG_032071.1:g.69571=, NC_000012.12:g.20875274G>C, NG_032071.1:g.69571G>C, rs60140950, NC_000012.12:g.20875274= +PA166153553 rs6018 PA159 F5 NC_000001.11:169542640 2 0 0 0 0 60636513, 13306324, 52823616, NC_000001.11:g.169542640T>G, NG_011806.1:g.48892A>C, NG_011806.1:g.48892=, rs52823616, rs13306324, NP_000121.2:p.Asn817=, rs60636513, rs6018, NP_000121.2:p.Asn817Thr, NC_000001.11:g.169542640=, NC_000001.10:g.169511878=, 6018, NC_000001.10:g.169511878T>G, NM_000130.4:c.2450A>C +PA166232881 rs6019 PA159 F5 NC_000001.11:169572275 1 0 0 0 0 NP_000121.2:p.Asp107=, NG_011806.1:g.19257=, NC_000001.11:g.169572275C>G, NC_000001.10:g.169541513=, 52823153, NG_011806.1:g.19257G>A, NC_000001.10:g.169541513C>T, NG_011806.1:g.19257G>C, rs6019, NP_000121.2:p.Asp107Asn, 6019, NC_000001.11:g.169572275C>T, NP_000121.2:p.Asp107His, NC_000001.11:g.169572275=, NC_000001.10:g.169541513C>G +PA166232822 rs6020 PA159 F5 NC_000001.11:169549874 1 0 0 0 0 6020, NG_011806.1:g.41658=, NG_011806.1:g.41658G>A, NC_000001.10:g.169519112C>T, NP_000121.2:p.Arg513Lys, NC_000001.11:g.169549874C>T, NP_000121.2:p.Arg513Ile, rs6020, 117835136, NC_000001.11:g.169549874=, NC_000001.10:g.169519112=, NG_011806.1:g.41658G>T, NC_000001.11:g.169549874C>A, NP_000121.2:p.Arg513=, 58846881, NC_000001.10:g.169519112C>A, 56575896 +PA166155950 rs6021191 PA31583 NFATC2 NC_000020.11:51419700 4 1 0 0 0 6021191, NM_001258292.1:c.2662+12367T>A, NM_173091.3:c.2722+12367T>A, NM_001258294.1:c.2065+12367T>A, NM_001258297.1:c.2065+12367T>A, NM_001258296.1:c.2065+12367T>A, NC_000020.11:g.51419700A>T, rs58194484, 58194484, NC_000020.10:g.50036237A>T, XM_005260413.1:c.2719+12367T>A, NC_000020.11:g.51419700=, NM_001258295.1:c.2065+12367T>A, rs6021191, NM_012340.4:c.2722+12367T>A, NM_001136021.2:c.2662+12367T>A, NC_000020.10:g.50036237= +PA166153554 rs6025 PA159 F5 NC_000001.11:169549811 13 1 0 0 9 NG_011806.1:g.41721=, 6025, NP_000121.2:p.Arg534Leu, rs6025, NC_000001.11:g.169549811C>T, NG_011806.1:g.41721G=, rs60031897, NG_011806.1:g.41721G>T, NC_000001.10:g.169519049T=, NM_000130.4:c.1601G>A, NP_000121.2:p.Arg534Gln, rs1801711, NC_000001.10:g.169519049T>C, 1801711, NM_000130.4:c.1601G=, NC_000001.11:g.169549811C=, NC_000001.10:g.169519049T>A, NC_000001.11:g.169549811=, 60031897, NP_000121.2:p.Arg534=, NG_011806.1:g.41721G>A, NC_000001.11:g.169549811C>A +PA166201322 rs6025211 NC_000020.11:56864307 2 1 0 0 0 NC_000020.10:g.55439363C>G, NC_000020.11:g.56864307=, rs6025211, 6025211, NC_000020.11:g.56864307C>T, 59565503, NC_000020.10:g.55439363=, NC_000020.10:g.55439363C>T, NC_000020.11:g.56864307C>G +PA166153580 rs602633 PA26394,PA142671120 CELSR2,PSRC1 NC_000001.11:109278889 1 0 0 0 0 NC_000001.11:g.109278889T>G, NC_000001.10:g.109821511T>A, NC_000001.11:g.109278889=, NC_000001.10:g.109821511=, NC_000001.10:g.109821511T>C, rs602633, 58417054, rs58417054, NC_000001.11:g.109278889T>A, NC_000001.10:g.109821511T>G, 602633, NC_000001.11:g.109278889T>C +PA166155265 rs60282872 PA335 SREBF1 NC_000017.11:17836853 5 1 0 0 0 NC_000017.11:g.17836853del, NC_000017.10:g.17740165delC, 60282872, rs143925746, NC_000017.10:g.17740165_17740167=, XM_005256772.1:c.-34delG, NC_000017.11:g.17836851_17836853=, 368516250, NG_029029.1:g.5161del, NG_029029.1:g.5161delG, rs368516250, rs60282872, NG_029029.1:g.5159_5161=, NM_004176.4:c.-34delG, 143925746, NM_001005291.2:c.-34delG, NC_000017.10:g.17740167del +PA166155951 rs6028945 PA30535 MAFB NC_000020.11:40192165 1 1 0 0 0 60016658, NC_000020.11:g.40192165=, NC_000020.11:g.40192165G>T, NC_000020.11:g.40192165G>C, NC_000020.10:g.38820805G>A, NC_000020.11:g.40192165G>A, rs6028945, NC_000020.10:g.38820805=, rs60016658, 6028945, NC_000020.10:g.38820805G>C, NC_000020.10:g.38820805G>T +PA166153581 rs602950 PA98 CDA NC_000001.11:20589038 9 2 0 0 0 NC_000001.11:g.20589038=, NC_000001.10:g.20915531A>G, NC_000001.10:g.20915531=, NC_000001.11:g.20589038A>G, NM_001785.2:c.-92A>G, rs602950, 602950 +PA166179050 rs6031587 PA29349 HNF4A NC_000020.11:44409609 2 0 0 0 0 NC_000020.10:g.43038249C>T, 6031587, 57457605, 56578008, rs6031587, NG_009818.1:g.58809=, NC_000020.11:g.44409609=, NC_000020.10:g.43038249=, NC_000020.11:g.44409609C>T, NG_009818.1:g.58809C>T +PA166153893 rs60369023 PA98 CDA NC_000001.11:20604981 5 2 0 0 0 60369023, rs60369023, NC_000001.10:g.20931474G>A, NC_000001.11:g.20604981G>A, NC_000001.11:g.20604981=, NC_000001.10:g.20931474=, NP_001776.1:p.Ala70Thr, NP_001776.1:p.Ala70=, NM_001785.2:c.208G>A +PA166279862 rs60427389 PA33393 PLCG2 NC_000016.10:81896322 2 0 0 0 0 NG_032019.2:g.162226C>T, NC_000016.10:g.81896322C>G, NG_032019.2:g.162226=, rs60427389, 60427389, NG_032019.2:g.162226C>G, NC_000016.10:g.81896322=, NC_000016.9:g.81929927C>G, NC_000016.9:g.81929927=, NC_000016.9:g.81929927C>T, NC_000016.10:g.81896322C>T +PA166154671 rs6046 PA160 F7 NC_000013.11:113118845 4 0 0 0 0 NR_051961.1:n.1259G>A, 36209568, NC_000013.10:g.113773159G>C, NP_001254483.1:p.Arg329Gln, NC_000013.10:g.113773159G>A, NG_009262.1:g.18055=, XP_011535776.1:p.Arg427Gln, rs6046, NC_000013.11:g.113118845G>T, XP_011535778.1:p.Arg311Gln, XM_011537474.1:c.1280G>A, rs532977, 532977, NC_000013.10:g.113773159=, NM_001267554.1:c.986G>A, NP_000122.1:p.Arg413=, XP_011535779.1:p.Arg414Gln, NM_019616.3:c.1172G>A, NG_009262.1:g.18055G>C, NP_000122.1:p.Arg413Leu, NG_009262.1:g.18055G>A, rs112274850, 6046, XM_011537475.1:c.1094G>A, NG_009258.1:g.1047G>T, XM_006719963.2:c.1031G>A, 112274850, NC_000013.11:g.113118845=, XM_011537476.1:c.932G>A, rs36209568, NG_009262.1:g.18055G>T, NC_000013.11:g.113118845G>A, NP_062562.1:p.Arg391Gln, NC_000013.11:g.113118845G>C, NM_000131.4:c.1238G>A, NG_009258.1:g.1047G>A, NP_000122.1:p.Arg413Gln, NG_009258.1:g.1047G>C, XM_011537477.1:c.1241G>A, XP_006720026.1:p.Arg344Gln, NG_009258.1:g.1047=, NC_000013.10:g.113773159G>T, XP_011535777.1:p.Arg365Gln, NP_000122.1:p.Arg413Pro +PA166159793 rs60511679 PA145 DPYD NC_000001.11:97305363 1 0 0 1 0 61730904, NG_008807.2:g.620697=, NP_000101.2:p.Val732Gly, NC_000001.11:g.97305363A>C, NC_000001.11:g.97305363=, 60511679, NC_000001.10:g.97770919A>C, rs60511679, NP_000101.2:p.Val732=, NC_000001.10:g.97770919=, NG_008807.2:g.620697T>G +PA166155952 rs6051702 PA134905007,PA29973 DNAAF9,ITPA NC_000020.11:3271278 4 1 0 0 0 XM_005260685.1:c.2258-716T>G, NC_000020.10:g.3251924A>C, NG_031974.1:g.141386T>G, 59587953, XM_005260684.1:c.2648-716T>G, NG_031974.2:g.141385T>G, XM_005260687.3:c.896-716T>G, XR_244215.1:n.2664-716T>G, NC_000020.10:g.3251924=, NG_031974.2:g.141385=, NC_000020.11:g.3271278=, NG_031974.1:g.141386=, XM_005260687.1:c.896-716T>G, XM_006723556.2:c.2573-716T>G, 6051702, rs6051702, XM_005260684.2:c.2648-716T>G, rs59587953, NM_001009984.2:c.2651-716T>G, XM_011529207.1:c.1673-716T>G, NC_000020.11:g.3271278A>C, XM_011529208.1:c.896-716T>G, rs7265818, 7265818 +PA166155513 rs60563539 PA121 CYP2A6 NC_000019.10:40848629 1 1 1 0 0 NP_000753.3:p.Leu160=, XP_005258625.1:p.Leu109Ile, NG_008377.1:g.6819=, NG_008377.1:g.6819C>A, NC_000019.10:g.40848629G>T, XM_005258568.1:c.325C>A, NC_000019.10:g.40848629=, NM_000762.5:c.478C>A, 60563539, rs60563539, NP_000753.3:p.Leu160Ile, NC_000019.9:g.41354534G>T, NC_000019.9:g.41354534= +PA166155514 rs60605885 PA121 CYP2A6 NC_000019.10:40848633 1 1 1 0 0 NP_000753.3:p.Asp158=, XM_005258568.1:c.321C>A, XM_005258568.1:c.321C>G, NC_000019.9:g.41354538G>C, NP_000753.3:p.Asp158Glu, rs60605885, NC_000019.10:g.40848633G>C, NG_008377.1:g.6815=, NM_000762.5:c.474C>A, NC_000019.9:g.41354538=, NC_000019.9:g.41354538G>T, XP_005258625.1:p.Asp107Glu, NC_000019.10:g.40848633=, NG_008377.1:g.6815C>A, NM_000762.5:c.474C>G, 60605885, NC_000019.10:g.40848633G>T, NG_008377.1:g.6815C>G +PA166155953 rs6064463 NC_000020.11:56905221 2 1 0 0 0 NC_000020.11:g.56905221T>C, rs6064463, 6064463, NC_000020.11:g.56905221T>A, NC_000020.10:g.55480277T>C, NC_000020.10:g.55480277=, NC_000020.10:g.55480277T>A, rs59614919, NC_000020.11:g.56905221=, 59614919 +PA166155153 rs6065 PA178 GP1BA NC_000017.11:4933086 2 1 0 0 0 6065, NC_000017.11:g.4933086=, rs6065, rs61370736, NG_008767.2:g.5792=, NP_000164.5:p.Thr161=, NM_000173.6:c.482C>T, NC_000017.11:g.4933086C>T, NC_000017.10:g.4836381C>T, XP_005256668.1:p.Thr190Met, NG_008767.2:g.5792C>T, XM_005256611.1:c.569C>T, NC_000017.10:g.4836381=, NM_000173.5:c.482C>T, 61370736, NP_000164.5:p.Thr161Met +PA166180107 rs606545 PA31945 OPRM1 NC_000006.12:154110430 1 0 0 0 0 NG_021208.2:g.104930G>C, NC_000006.12:g.154110430G>A, NC_000006.12:g.154110430=, NG_021208.2:g.104930G>A, NC_000006.12:g.154110430G>C, NC_000006.11:g.154431565=, 606545, 57191194, NC_000006.11:g.154431565G>A, rs606545, NC_000006.11:g.154431565G>C, NG_021208.2:g.104930= +PA166195116 rs6070697 PA38100 TUBB1 NC_000020.11:59024347 1 0 0 0 0 59113071, NC_000020.10:g.57599402=, NP_110400.1:p.Arg307=, NC_000020.11:g.59024347=, NC_000020.10:g.57599402G>A, rs6070697, 6070697, NC_000020.11:g.59024347G>A, NG_023424.2:g.10094=, NG_023424.2:g.10094G>A, NP_110400.1:p.Arg307His +PA166155954 rs6071980 PA30535 MAFB NC_000020.11:40239936 1 1 0 0 0 rs60252799, NC_000020.11:g.40239936T>C, NC_000020.11:g.40239936=, NC_000020.10:g.38868576T>C, NC_000020.10:g.38868576=, 6071980, rs6071980, rs7269055, 60252799, 7269055 +PA166155955 rs6072262 PA353 TOP1 NC_000020.11:41076355 1 1 0 0 0 rs6072262, NC_000020.11:g.41076355G>A, NC_000020.11:g.41076355=, NG_012262.1:g.52534G>A, NC_000020.10:g.39704995=, NG_012262.2:g.52534=, NC_000020.10:g.39704995G>A, XM_005260541.1:c.183+61G>A, NG_012262.2:g.52534G>A, NG_012262.1:g.52534=, NM_003286.2:c.279+61G>A, 6072262 +PA166211522 rs60769490 PA28660 GGCX NC_000002.12:85554455_85554484 1 0 0 0 0 NC_000002.12:g.85554455_85554457TTG[17], NC_000002.12:g.85554455_85554457TTG[15], NC_000002.12:g.85554455_85554457TTG[13], NC_000002.12:g.85554455_85554457TTG[11], rs60769490, NC_000002.11:g.85781578_85781580TTG[14], NC_000002.11:g.85781578_85781580TTG[16], NC_000002.11:g.85781578_85781580TTG[8], 145162516, NC_000002.12:g.85554455_85554457TTG[7], NC_000002.11:g.85781578_85781580TTG[6], 60769490, NG_011811.2:g.12051_12053CAA[13], NG_011811.2:g.12051_12053CAA[6], NC_000002.11:g.85781578_85781580TTG[12], NG_011811.2:g.12051_12053CAA[11], NC_000002.12:g.85554455_85554457TTG[9], NG_011811.2:g.12051_12053CAA[17], NC_000002.12:g.85554455_85554484=, NG_011811.2:g.12051_12053CAA[15], NG_011811.2:g.12051_12053CAA[8], 145024834, NG_011811.2:g.12051_12080=, NC_000002.12:g.85554455_85554457TTG[16], NC_000002.12:g.85554455_85554457TTG[14], NC_000002.12:g.85554455_85554457TTG[12], NC_000002.11:g.85781578_85781580TTG[15], NC_000002.11:g.85781578_85781580TTG[17], NC_000002.11:g.85781578_85781580TTG[9], NC_000002.12:g.85554455_85554457TTG[8], NC_000002.11:g.85781578_85781607=, NC_000002.11:g.85781578_85781580TTG[7], 150496372, NC_000002.12:g.85554455_85554457TTG[6], NC_000002.11:g.85781578_85781580TTG[11], NG_011811.2:g.12051_12053CAA[14], NG_011811.2:g.12051_12053CAA[7], NC_000002.11:g.85781578_85781580TTG[13], NG_011811.2:g.12051_12053CAA[12], NG_011811.2:g.12051_12053CAA[16], NG_011811.2:g.12051_12053CAA[9], 201245264 +PA166155956 rs6083538 PA38081 ZNF343 NC_000020.11:2522094 1 0 0 0 0 17225979, rs6083538, NC_000020.11:g.2522094C>T, NM_001282495.1:c.-347+2361G>A, rs17225979, 6083538, NC_000020.11:g.2522094=, NC_000020.10:g.2502740=, rs8113879, 8113879, NC_000020.10:g.2502740C>T +PA166185175 rs6088638 PA24429 ACSS2 NC_000020.11:34882711 1 1 0 0 0 NG_011520.1:g.12770T>C, NC_000020.11:g.34882711=, NC_000020.11:g.34882711T>C, NG_011520.1:g.12770=, NC_000020.10:g.33470514=, rs6088638, 6088638, NC_000020.10:g.33470514T>C, 59986481 +PA166177052 rs6090041 PA31944,PA34370 OPRL1,RGS19 NC_000020.11:64081323 2 1 0 0 0 NC_000020.11:g.64081323=, NC_000020.10:g.62712676G>A, NC_000020.10:g.62712676=, rs6090041, 57716649, NC_000020.11:g.64081323G>A, 6090041 +PA166177053 rs6090043 PA162378956,PA31944 LKAAEAR1,OPRL1 NC_000020.11:64086577 2 1 0 0 0 60045168, NC_000020.11:g.64086577C>T, NC_000020.10:g.62717930=, NC_000020.10:g.62717930C>T, 6090043, rs6090043, 386601485, NC_000020.11:g.64086577= +PA166184544 rs6090378 PA26490 CHRNA4 NC_000020.11:63344026 1 1 0 0 0 61173927, NC_000020.11:g.63344026A>C, NC_000020.10:g.61975378=, NG_011931.1:g.22318=, NG_011931.1:g.22318T>C, NG_011931.1:g.22318T>G, rs6090378, 6090378, 17818798, NC_000020.11:g.63344026=, NC_000020.10:g.61975378A>C, NC_000020.10:g.61975378A>G, NC_000020.11:g.63344026A>G +PA166155957 rs6090384 PA26490 CHRNA4 NC_000020.11:63359522 1 0 0 0 0 NM_000744.6:c.228+26A>G, 60741015, NM_001256573.1:c.-319+26A>G, NR_046317.1:n.459+26A>G, NC_000020.10:g.61990874=, NG_011931.1:g.6822=, NC_000020.10:g.61990874T>C, NC_000020.11:g.63359522=, 6090384, rs6090384, NC_000020.10:g.61990874T>A, NG_011931.1:g.6822A>T, rs60741015, XR_244127.1:n.-466T>C, NC_000020.11:g.63359522T>C, NC_000020.11:g.63359522T>A, XM_005260189.1:c.-86+26A>G, NR_110634.1:n.-466T>C, NG_011931.1:g.6822A>G, XM_005260190.1:c.-145-8495A>G +PA166183707 rs609148 PA31945 OPRM1 NC_000006.12:154109880 6 1 0 0 0 rs609148, NC_000006.12:g.154109880=, NG_021208.2:g.104380G>T, 17276475, 3798685, NC_000006.11:g.154431015G>A, NC_000006.12:g.154109880G>A, NG_021208.2:g.104380G>A, 609148, NC_000006.12:g.154109880G>T, NG_021208.2:g.104380=, NC_000006.11:g.154431015=, 790717, 790512, 60975481, NC_000006.11:g.154431015G>T +PA166157240 rs6092 PA261 SERPINE1 NC_000007.14:101128436 2 1 0 0 0 rs6092, NC_000007.13:g.100771717G>A, rs52825313, 52825313, NC_000007.13:g.100771717=, NM_000602.4:c.43G>A, 6092, NP_000593.1:p.Ala15=, XP_005250449.1:p.Ala15Thr, rs11553531, NC_000007.14:g.101128436=, NC_000007.14:g.101128436G>A, NG_013213.1:g.6339G>A, XM_005250392.1:c.43G>A, NP_000593.1:p.Ala15Thr, NG_013213.1:g.6339=, 11553531 +PA166179001 rs6093976 PA29349 HNF4A NC_000020.11:44407140 2 0 0 0 0 6093976, NG_009818.1:g.56340=, rs6093976, NC_000020.11:g.44407140=, NC_000020.10:g.43035780C>T, 60379501, NC_000020.10:g.43035780=, NC_000020.11:g.44407140C>T, NG_009818.1:g.56340C>T +PA166179004 rs6093978 PA29349 HNF4A NC_000020.11:44412951 1 0 0 0 0 rs6093978, 6093978, NC_000020.10:g.43041591C>G, NC_000020.11:g.44412951C>T, NC_000020.11:g.44412951C>G, NC_000020.10:g.43041591=, NG_009818.1:g.62151C>T, NC_000020.11:g.44412951=, NG_009818.1:g.62151=, NC_000020.10:g.43041591C>T, NG_009818.1:g.62151C>G, 58245915 +PA166180171 rs609623 PA31945 OPRM1 NC_000006.12:154103824 1 0 0 0 0 NC_000006.12:g.154103824T>A, NG_021208.2:g.98324=, NG_021208.2:g.98324T>A, NC_000006.12:g.154103824T>C, NG_021208.2:g.98324T>C, NC_000006.11:g.154424959=, 1853384, NC_000006.12:g.154103824=, NC_000006.11:g.154424959T>A, 609623, NC_000006.11:g.154424959T>C, rs609623 +PA166184580 rs610231 PA31945 OPRM1 NC_000006.12:154057342 1 0 0 0 0 NG_021208.2:g.51842=, NG_021208.2:g.51842G>A, NG_021208.2:g.51842G>C, 610231, 57222732, NC_000006.11:g.154378477=, NC_000006.11:g.154378477G>C, NC_000006.12:g.154057342=, NC_000006.11:g.154378477G>A, rs610231, NC_000006.12:g.154057342G>A, NC_000006.12:g.154057342G>C +PA166156931 rs610604 PA36593 TNFAIP3 NC_000006.12:137878280 7 2 0 0 0 XM_006715555.1:c.348-152G>T, NM_001270508.1:c.987-152G>T, NG_032761.1:g.15837G>C, NC_000006.12:g.137878280=, NG_032761.1:g.15837G>A, NC_000006.11:g.138199417G>T, XM_011536096.1:c.987-152G>T, NM_001270507.1:c.987-152G>T, NG_032761.1:g.15837G>T, NM_006290.3:c.987-152G>T, NG_032761.1:g.15837=, 60223250, NC_000006.11:g.138199417G>A, NC_000006.12:g.137878280G>A, XM_011536095.1:c.987-152G>T, rs610604, rs17780315, NC_000006.12:g.137878280G>C, XM_005267119.1:c.987-152G>T, 610604, NC_000006.11:g.138199417=, rs60223250, 17780315, NC_000006.12:g.137878280G>T, NC_000006.11:g.138199417G>C +PA166155959 rs6108160 PA33384 PLCB1 NC_000020.11:8591578 1 1 0 0 0 NM_182734.2:c.247-36716G>A, 6108160, NC_000020.11:g.8591578=, rs60625352, rs6108160, XM_005260681.1:c.247-36716G>A, NG_028168.1:g.463930G>A, NC_000020.11:g.8591578G>A, 60625352, NC_000020.10:g.8572225=, XM_011529199.1:c.247-36716G>A, NM_015192.3:c.247-36716G>A, NG_028168.1:g.463930=, NC_000020.10:g.8572225G>A, XM_011529202.1:c.247-36716G>A +PA166171039 rs61123830 PA142671708 GRAMD1B NC_000011.10:123522138 1 1 0 0 0 61906279, NC_000011.10:g.123522138=, NC_000011.9:g.123392846G>C, NC_000011.10:g.123522138G>A, NC_000011.9:g.123392846=, rs61123830, NC_000011.10:g.123522138G>C, 61123830, NC_000011.9:g.123392846G>A +PA166154763 rs6113 PA35505 SERPINA5 NC_000014.9:94587512 2 1 0 0 0 XP_005267780.1:p.Phe50=, 6113, XM_005267723.1:c.150T>C, XM_005267722.1:c.150T>C, rs6113, XP_005267779.1:p.Phe50=, NG_032908.2:g.31071=, rs933175, XP_005267781.1:p.Phe50=, rs59626785, XM_005267725.1:c.53+97T>C, NG_032908.2:g.31071T>C, XM_005267724.1:c.150T>C, NC_000014.8:g.95053849T>C, NP_000615.3:p.Phe50=, NC_000014.9:g.94587512T>C, 933175, NC_000014.8:g.95053849=, NM_000624.5:c.150T>C, NC_000014.9:g.94587512=, 59626785 +PA166155133 rs61162043 PA134899581,PA133787052 BCKDK,VKORC1 NC_000016.10:31102913 2 1 0 0 0 NC_000016.9:g.31114234A>G, 61162043, NC_000016.9:g.31114234=, NC_000016.10:g.31102913A>G, NC_000016.10:g.31102913=, rs61162043 +PA166201545 rs6118 PA35505 SERPINA5 NC_000014.9:94587526 1 1 0 0 0 NP_000615.3:p.Ala55=, NP_000615.3:p.Ala55Val, NC_000014.8:g.95053863=, NC_000014.8:g.95053863C>T, NC_000014.9:g.94587526C>T, NG_032908.2:g.31085=, NG_032908.2:g.31085C>G, rs6118, NC_000014.8:g.95053863C>G, 60797362, NG_032908.2:g.31085C>T, NP_000615.3:p.Ala55Gly, NC_000014.9:g.94587526C>G, 6118, 933176, NC_000014.9:g.94587526= +PA166201546 rs6119 PA35505 SERPINA5 NC_000014.9:94587675 1 1 0 0 0 NC_000014.8:g.95054012A>G, rs6119, NC_000014.9:g.94587675=, NC_000014.9:g.94587675A>G, NG_032908.2:g.31234A>G, NP_000615.3:p.Lys105Glu, NP_000615.3:p.Lys105=, 3190222, 61244877, 6119, NC_000014.8:g.95054012=, NG_032908.2:g.31234= +PA166155960 rs6123048 PA31583 NFATC2 NC_000020.11:51530861 1 0 0 0 0 NC_000020.10:g.50147400=, NC_000020.10:g.50147400A>G, NM_001258292.1:c.71-6751T>C, NM_001258295.1:c.-13-7265T>C, XM_005260413.1:c.131-6754T>C, NM_012340.4:c.131-6751T>C, XM_011528824.1:c.131-6751T>C, NM_001258297.1:c.-13-7265T>C, NM_001258294.1:c.-13-7265T>C, NC_000020.11:g.51530861=, NM_001136021.2:c.71-6751T>C, XM_011528826.1:c.-13-7265T>C, 59847809, rs6123048, NC_000020.11:g.51530861A>G, rs59847809, NM_173091.3:c.131-6751T>C, XM_011528825.1:c.71-6751T>C, NM_001258296.1:c.-13-7265T>C, 6123048 +PA166155961 rs6127921 NC_000020.11:57063694 1 1 0 0 0 6127921, 61127751, NC_000020.11:g.57063694=, NC_000020.10:g.55638750A>C, rs61127751, NC_000020.11:g.57063694A>C, NC_000020.10:g.55638750=, rs6127921 +PA166155962 rs6130615 PA29349 HNF4A NC_000020.11:44430797 3 1 0 0 0 NC_000020.11:g.44430797C>G, rs56781780, rs56506806, NC_000020.10:g.43059437C>G, NM_001258355.1:c.*1132C>T, 6130615, rs6130615, 57105197, NC_000020.11:g.44430797C>T, 56781780, NC_000020.11:g.44430797=, 56506806, NC_000020.10:g.43059437C>T, NM_000457.4:c.*1132C>T, rs57105197, XM_005260407.2:c.*1132C>T, NG_009818.1:g.79997C>T, NM_178849.2:c.*1132C>T, NC_000020.10:g.43059437=, NM_001287182.1:c.*1132C>T, NM_001287183.1:c.*1132C>T, XM_011528798.1:c.*1132C>T, NG_009818.1:g.79997=, NG_009818.1:g.79997C>G, NM_001030003.2:c.*1132C>T, XM_011528797.1:c.*1132C>T, XM_005260407.1:c.*1132C>T, NM_175914.4:c.*1132C>T +PA166186019 rs61311738 PA124 CYP2C19 NC_000010.11:94780535 4 1 0 0 0 NC_000010.10:g.96540292=, 61311738, NG_008384.3:g.22855C>T, NC_000010.11:g.94780535C>T, NC_000010.10:g.96540292C>T, NG_008384.3:g.22855C>A, NP_000760.1:p.Ala173Asp, NP_000760.1:p.Ala173Val, NC_000010.11:g.94780535=, NP_000760.1:p.Ala173=, rs61311738, NC_000010.11:g.94780535C>A, NG_008384.3:g.22855=, NC_000010.10:g.96540292C>A +PA166184668 rs613355 PA31945 OPRM1 NC_000006.12:154128715 1 0 0 0 0 NG_021208.2:g.123215C>G, NC_000006.11:g.154449850C>G, NC_000006.12:g.154128715C>A, NC_000006.12:g.154128715C>G, NG_021208.2:g.123215C>A, NG_021208.2:g.123215=, 613355, 17211135, 1394897, NC_000006.11:g.154449850C>T, NC_000006.12:g.154128715C>T, 60054742, NC_000006.11:g.154449850=, NG_021208.2:g.123215C>T, NC_000006.12:g.154128715=, rs613355, NC_000006.11:g.154449850C>A +PA166153555 rs6136 PA35643 SELP NC_000001.11:169594713 1 0 0 0 0 rs52807558, NG_012125.2:g.40427A>C, XM_005245440.1:c.2080A>C, 6136, XP_005245495.1:p.Thr756Pro, NG_012125.1:g.40427=, XP_005245497.1:p.Thr694Pro, XP_005245493.1:p.Thr756Pro, XM_005245436.2:c.2266A>C, NC_000001.10:g.169563951=, NG_012125.2:g.40427=, NG_012125.1:g.40427A>C, XP_005245496.1:p.Thr756Pro, NC_000001.11:g.169594713T>G, NC_000001.11:g.169594713=, NM_003005.3:c.2266A>C, 386601715, XM_005245435.1:c.2266A>C, NC_000001.10:g.169563951T>G, XM_005245436.1:c.2266A>C, rs17588388, rs1801717, rs6136, XM_005245438.1:c.2266A>C, XM_005245439.1:c.2266A>C, XP_005245492.1:p.Thr756Pro, 1801717, NP_002996.2:p.Thr756Pro, XM_005245437.1:c.2266A>C, NP_002996.2:p.Thr756=, XP_005245494.1:p.Thr756Pro, rs58472342, 58472342, 17588388, 52807558, rs386601715 +PA166156689 rs61361928 PA361 UGT2B7 NC_000004.12:69096657 1 1 0 0 0 XM_005265702.2:c.-26-1883T>C, 61361928, NC_000004.12:g.69096657T>C, NC_000004.11:g.69962375T>C, NM_001074.2:c.137T>C, XP_011530532.1:p.Leu46Pro, NC_000004.12:g.69096657=, XM_011532229.1:c.137T>C, XP_011530531.1:p.Leu46Pro, NP_001065.2:p.Leu46=, NP_001065.2:p.Leu46Pro, rs61361928, XM_005265702.1:c.-26-1883T>C, NC_000004.11:g.69962375=, XM_011532230.1:c.137T>C, XM_011532231.1:c.-26-1883T>C +PA166154286 rs613808 PA49 APOA1 NC_000011.10:116840252 1 0 0 0 0 3758983, NC_000011.10:g.116840252=, rs3758983, NR_126362.1:n.123+4013A>G, 613808, NG_012021.1:g.2371T>C, NC_000011.9:g.116710968A>G, rs613808, NC_000011.10:g.116840252A>G, NG_012021.1:g.2371=, NC_000011.9:g.116710968= +PA166155963 rs6138150 PA26978 CST5 NC_000020.11:23866372 1 1 0 0 0 rs58075010, NC_000020.11:g.23866372T>C, NC_000020.10:g.23847009=, rs8126099, 58075010, 8126099, 6138150, rs6138150, NC_000020.11:g.23866372=, NC_000020.10:g.23847009T>C +PA166157499 rs61399156 PA134939318 DOCK4 NC_000007.14:112032246 1 0 0 0 0 NG_028060.1:g.179162=, NG_028060.2:g.179166T>A, NM_014705.3:c.38-28115T>A, XM_011516717.1:c.38-28115T>A, NG_028060.1:g.179162T>A, 61399156, XM_011516716.1:c.38-28115T>A, rs61399156, XM_005250724.1:c.38-28115T>A, XM_006716188.1:c.38-28115T>A, XM_006716189.1:c.38-28115T>A, NC_000007.14:g.112032246A>T, NC_000007.13:g.111672301A>T, NG_028060.2:g.179166=, NC_000007.14:g.112032246=, NC_000007.13:g.111672301= +PA166157783 rs6151031 PA24692 ALDH1A1 NC_000009.12:72953472 2 2 0 0 0 NC_000009.12:g.72953471_72953472insTGAGGAGAGAACCCTGG, NG_012249.1:g.4583_4586=, NC_000009.12:g.72953468_72953471=, NG_012249.1:g.4586_4587insGGTTCTCTCCTGACCAG, rs6151031, NC_000009.12:g.72953467_72953468insCTGGTGAGGAGAGAACC, NC_000009.11:g.75568387_75568388insTGAGGAGAGAACCCTGG, NG_012249.1:g.4586_4587insGGTTCTCTCCTCACCAG, 142856037, NC_000009.12:g.72953471_72953472insTCAGGAGAGAACCCTGG, NC_000009.11:g.75568387_75568388insTCAGGAGAGAACCCTGG, NM_000689.4:c.-468_-467insGGTTCTCTCCTCACCAG, 6151031, NC_000009.11:g.75568383_75568384insCTGGTGAGGAGAGAACC, XM_005251800.1:c.-14-454_-14-453insGGTTCTCTCCTCACCAG, NC_000009.11:g.75568384_75568387=, rs142856037 +PA166208146 rs61526399 PA124 CYP2C19 NC_000010.11:94820512 1 0 0 0 0 NP_000760.1:p.Gln279=, NC_000010.10:g.96580269=, NG_008384.3:g.62832A>C, NG_008384.3:g.62832=, NC_000010.10:g.96580269A>C, NP_000760.1:p.Gln279Pro, 61526399, NC_000010.11:g.94820512A>T, NC_000010.11:g.94820512=, NG_008384.3:g.62832A>T, NC_000010.10:g.96580269A>T, NP_000760.1:p.Gln279Leu, rs61526399, NC_000010.11:g.94820512A>C +PA166154842 rs615470 PA113,PA26491 CHRNA3,CHRNA5 NC_000015.10:78593646 4 1 0 0 0 615470, NC_000015.10:g.78593646=, NM_001166694.1:c.1390-455A>G, rs386601798, NC_000015.9:g.78885988T>C, NG_023328.1:g.33127T>C, 386601798, XM_011521174.1:c.*530T>C, NC_000015.9:g.78885988=, NM_000745.3:c.*393T>C, XM_005254142.2:c.*530T>C, rs59627565, NM_001307945.1:c.*530T>C, NC_000015.10:g.78593646T>C, XM_005254142.1:c.*530T>C, NR_046313.1:n.2181+268A>G, rs615470, NG_023328.1:g.33127=, 59627565, NG_016143.1:g.32650A>G, NG_016143.1:g.32650= +PA166181817 rs61585310 PA30361 LHFPL3 NC_000007.14:104366062 1 0 0 0 0 NC_000007.13:g.104006510T>C, 62486512, NC_000007.14:g.104366062T>C, NC_000007.14:g.104366062=, 61585310, NC_000007.13:g.104006510T>G, NC_000007.14:g.104366062T>A, NC_000007.13:g.104006510=, rs61585310, NC_000007.14:g.104366062T>G, NC_000007.13:g.104006510T>A +PA166262002 rs61605570 PA121 CYP2A6 NC_000019.10:40845458 1 1 0 0 0 NC_000019.9:g.41351363=, NP_000753.3:p.Arg333Ter, NC_000019.10:g.40845458=, NC_000019.10:g.40845458T>A, NC_000019.9:g.41351363T>A, rs61605570, NG_008377.1:g.9990=, NP_000753.3:p.Arg333=, 61605570, NG_008377.1:g.9990A>T +PA166202221 rs616147 PA30899 MOBP NC_000003.12:39492990 2 1 0 0 0 1708105, 60674237, NC_000003.12:g.39492990=, NC_000003.12:g.39492990A>G, 56422977, NC_000003.11:g.39534481A>G, NC_000003.11:g.39534481=, 616147, 58096885, rs616147 +PA166159638 rs61622928 PA145 DPYD NC_000001.11:97573881 5 0 0 1 0 61730900, 199469532, NC_000001.11:g.97573881=, NG_008807.2:g.352179=, rs61622928, NC_000001.10:g.98039437C>T, NG_008807.2:g.352179G>A, 61622928, NP_000101.2:p.Met406Ile, NC_000001.10:g.98039437=, NC_000001.11:g.97573881C>T, NP_000101.2:p.Met406= +PA166155582 rs6166 PA28386 FSHR NC_000002.12:48962782 7 6 0 0 0 XM_011532738.1:c.956+5916G>A, NP_000136.2:p.Ser680Asn, NC_000002.11:g.49189921=, NM_181446.2:c.1961G>A, XM_011532736.1:c.1247G>A, NP_852111.2:p.Ser654Asn, NC_000002.12:g.48962782=, rs6166, XP_011531036.1:p.Ser603Asn, NC_000002.11:g.49189921C>T, NC_000002.12:g.48962782C>T, XP_011531038.1:p.Ser416Asn, XM_011532733.1:c.2141G>A, rs56532439, XP_011531035.1:p.Ser714Asn, rs117436863, rs59607239, 117436863, 59607239, NP_000136.2:p.Ser680=, XM_011532739.1:c.956+5916G>A, XM_011532735.1:c.1247G>A, 6166, 56532439, 3181902, XM_005264243.1:c.1247G>A, XP_011531037.1:p.Ser416Asn, NG_008146.1:g.196710G>A, XM_011532737.1:c.956+5916G>A, rs17487266, rs3181902, XP_005264300.1:p.Ser416Asn, XP_005264299.1:p.Ser618Asn, XM_005264242.1:c.1853G>A, XM_011532734.1:c.1808G>A, NG_008146.1:g.196710=, NM_000145.3:c.2039G>A, 17487266 +PA166177125 rs61692318 NC_000004.12:96767816 1 1 0 0 0 NC_000004.12:g.96767816G>A, NC_000004.11:g.97688967=, NC_000004.12:g.96767816=, NC_000004.11:g.97688967G>A, rs61692318, 61692318 +PA166159014 rs61722009 PA254 NOS3 NC_000007.14:150997170_150997268 1 0 0 0 0 NC_000007.13:g.150694276_150694302AGGGGTGAGGAAGTCTAGACCTGCTGC[4], NG_011992.1:g.11130_11156AGGGGTGAGGAAGTCTAGACCTGCTGC[4], NC_000007.14:g.150997188_150997214AGGGGTGAGGAAGTCTAGACCTGCTGC[4], NC_000007.14:g.150997170_150997268=, NC_000007.14:g.150997188_150997214AGGGGTGAGGAAGTCTAGACCTGCTGC[2], NC_000007.13:g.150694258_150694356=, rs61722009, NG_011992.1:g.11112_11210=, 61722009, NC_000007.13:g.150694276_150694302AGGGGTGAGGAAGTCTAGACCTGCTGC[2], NG_011992.1:g.11130_11156AGGGGTGAGGAAGTCTAGACCTGCTGC[2] +PA166246101 rs61733692 PA24363 AADAC NC_000003.12:151828170 1 0 0 0 0 rs61733692, NC_000003.11:g.151545958T>G, 61733692, NP_001077.2:p.Ter400Gln, NC_000003.12:g.151828170T>C, NC_000003.11:g.151545958=, NC_000003.12:g.151828170=, NC_000003.12:g.151828170T>G, NP_001077.2:p.Ter400Glu, NC_000003.11:g.151545958T>C, NP_001077.2:p.Ter400= +PA166204281 rs61734410 PA380 CACNA1H NC_000016.10:1202369 1 0 0 0 0 NC_000016.10:g.1202369C>A, NG_012647.1:g.54129C>T, 61734410, NP_066921.2:p.Pro640=, NC_000016.10:g.1202369=, NP_066921.2:p.Pro640Leu, NC_000016.9:g.1252369C>A, NG_012647.1:g.54129C>A, rs61734410, NG_012647.1:g.54129=, NC_000016.9:g.1252369C>T, NC_000016.9:g.1252369=, NP_066921.2:p.Pro640Gln, NC_000016.10:g.1202369C>T +PA166154476 rs61734430 PA28211 FOLR3 NC_000011.10:72139084 1 1 0 0 0 NG_032935.1:g.8360C>T, NC_000011.9:g.71850130=, NM_001318045.1:c.19C>T, 61734430, NP_000795.2:p.Arg98=, NC_000011.10:g.72139084C>T, NM_000804.3:c.292C>T, NG_032935.1:g.8360=, XP_011543175.1:p.Arg98Cys, XP_011543177.1:p.Arg7Cys, NC_000011.10:g.72139084=, rs61734430, NC_000011.9:g.71850130C>T, XM_011544873.1:c.292C>T, NP_000795.2:p.Arg98Cys, XM_011544876.1:c.81+24C>T, XM_011544875.1:c.19C>T, XM_011544874.1:c.292C>T, NP_001304974.1:p.Arg7Cys, XP_011543176.1:p.Arg98Cys +PA166156172 rs61736512 PA128 CYP2D6 NC_000022.11:42129132 27 7 7 0 0 NP_000097.3:p.Val136Met, XP_011528268.1:p.Val136Met, XM_011529970.1:c.353-188G>A, XM_011529972.1:c.406G>A, XP_011528274.1:p.Val136Met, XM_011529969.1:c.263G>A, NG_008376.3:g.5860G>A, XM_011547541.1:c.107G>A, XM_011529968.1:c.406G>A, NG_008376.3:g.5860=, XM_011547751.1:c.190G>A, NC_000022.11:g.42129132C>T, NW_009646208.1:g.14698C>T, XP_011528271.1:p.Arg88His, NC_000022.11:g.42129132=, XP_005278411.1:p.Arg36His, XM_005278353.1:c.363-189G>A, NM_001025161.2:c.353-188G>A, NG_008376.4:g.6679G>A, 61736512, XP_011546052.1:p.Arg88His, NM_000106.5:c.406G>A, XP_011528270.1:p.Val136Met, XP_011528269.1:p.Val136Met, XP_011528273.1:p.Arg88His, XM_005278354.1:c.107G>A, XM_011529966.1:c.406G>A, XM_005278354.3:c.107G>A, XR_430455.2:n.-739C>T, NW_004504305.1:g.51459C>T, XM_011547750.1:c.263G>A, XP_011545843.1:p.Arg36His, XM_011529971.1:c.263G>A, XM_011548819.1:c.107G>A, XP_011546053.1:p.Val64Ile, XP_011547121.1:p.Arg36His, NC_000022.10:g.42525134C>T, XR_952745.1:n.1563G>A, XM_011547756.1:c.-903C>T, NP_000097.3:p.Val136=, rs61736512, NT_187682.1:g.51473C>T, NG_008376.4:g.6679=, NC_000022.10:g.42525134=, XM_011529967.1:c.406G>A +PA166155134 rs61742245 PA165450635,PA133787052 PRSS53,VKORC1 NC_000016.10:31094624 7 2 0 0 0 NP_001298240.1:p.Asp36Tyr, NC_000016.9:g.31105945C>A, NC_000016.10:g.31094624C>T, XP_011544247.1:p.Asp36Tyr, XP_011544246.1:p.Asp36Tyr, XP_011544245.1:p.Asp36Tyr, XR_950848.1:n.894G>T, 61742245, rs61742245, XM_005255568.1:c.106G>T, NG_011564.1:g.5332G>T, NM_206824.2:c.106G>T, XR_243303.1:n.755G>T, NM_024006.5:c.106G>T, 104894543, NC_000016.10:g.31094624=, NM_001311311.1:c.106G>T, NC_000016.9:g.31105945=, XM_011545945.1:c.106G>T, rs104894543, NG_011564.1:g.5332G>A, NC_000016.9:g.31105945C>T, NM_024006.4:c.106G>T, NP_076869.1:p.Asp36Tyr, NC_000016.10:g.31094624C>A, XM_011545944.1:c.106G>T, NP_076869.1:p.Asp36Asn, NP_076869.1:p.Asp36=, XP_005255625.1:p.Asp36Tyr, XM_011545943.1:c.106G>T, NG_011564.1:g.5332=, NP_996560.1:p.Asp36Tyr +PA166180558 rs61747221 PA162377503 BEST3 NC_000012.12:69643740 1 0 0 0 0 NC_000012.12:g.69643740=, 61747221, NC_000012.12:g.69643740G>A, NP_001269543.1:p.Pro383=, NC_000012.11:g.70037520=, rs61747221, NP_001269543.1:p.Pro383Leu, 117346107, NC_000012.11:g.70037520G>A +PA166276962 rs61750368 PA28763 GMPS NC_000003.12:155906153 1 0 0 0 0 rs61750368, 61750368, NG_023247.1:g.40618=, 386428315, NG_023247.1:g.40618T>C, NC_000003.12:g.155906153=, NC_000003.12:g.155906153T>C, NC_000003.11:g.155623942T>C, NC_000003.11:g.155623942= +PA166156690 rs61750900 PA37186 UGT2B10 NC_000004.12:68816218 9 1 0 0 0 NC_000004.11:g.69681936=, NM_001290091.1:c.-27+46G>T, NC_000004.12:g.68816218G>A, NP_001066.1:p.Asp67=, NC_000004.11:g.69681936G>T, NM_001075.5:c.199G>T, rs144647471, NT_167250.2:g.392237G>T, NP_001066.1:p.Asp67Tyr, 61750900, NM_001144767.2:c.199G>T, NT_167250.1:g.394187G>T, 144647471, NC_000004.12:g.68816218=, NC_000004.12:g.68816218G>T, NP_001138239.1:p.Asp67Tyr, rs61750900, NC_000004.11:g.69681936G>A, NP_001066.1:p.Asp67Asn +PA166300801 rs61752783 PA33500 POLG NC_000015.10:89326947 1 0 0 0 0 NC_000015.9:g.89870178C>G, NC_000015.10:g.89326947C>G, NG_008218.2:g.12849G>C, NP_002684.1:p.Gly517Ala, NC_000015.10:g.89326947=, NC_000015.9:g.89870178=, 61752783, NC_000015.10:g.89326947C>A, NG_008218.2:g.12849G>T, NP_002684.1:p.Gly517=, rs61752783, NP_002684.1:p.Gly517Val, NC_000015.9:g.89870178C>A, NG_008218.2:g.12849= +PA166153894 rs61757362 PA145 DPYD NC_000001.11:97079106 1 0 0 0 0 NC_000001.11:g.97079106G>A, NC_000001.11:g.97079106=, XP_005270618.1:p.Thr946Ile, NC_000001.10:g.97544662=, NG_008807.2:g.846954C>T, XM_005270561.1:c.2837C>T, XM_005270562.3:c.2732C>T, rs61757362, NC_000001.10:g.97544662G>A, NP_000101.2:p.Thr983Ile, NP_000101.2:p.Thr983=, XP_005270619.2:p.Thr911Ile, XP_005270619.1:p.Thr911Ile, NG_008807.2:g.846954=, XM_005270562.1:c.2732C>T, NM_000110.3:c.2948C>T, 61757362 +PA166154658 rs61764370 PA162394773,PA30196 ETFRF1,KRAS NC_000012.12:25207290 8 1 0 0 0 NC_000012.12:g.25207290A>C, NC_000012.11:g.25360224A>C, NG_007524.1:g.48631=, NG_007524.2:g.48714=, 61764370, rs200812391, NM_004985.4:c.*2505T>G, XM_011520653.1:c.*2505T>G, NG_007524.2:g.48714T>G, NC_000012.11:g.25360224=, NC_000012.12:g.25207290=, rs61764370, 200812391, NG_007524.1:g.48631T>G, NM_033360.3:c.*2626T>G +PA166156691 rs61767072 PA37 ADRA2C NC_000004.12:3767577_3767588 6 2 0 0 0 NC_000004.12:g.3767570_3767581delGGGGCGGGGCCG, NM_000683.3:c.964_975delGGGGCGGGGCCG, NC_000004.11:g.3769297_3769308delGGGGCGGGGCCG, NG_012640.1:g.6001_6020=, NC_000004.11:g.3769296_3769315=, NP_000674.2:p.Gly324_Ala327del, NP_000674.2:p.Gln321_Ala328=, 61767072, NG_012640.1:g.6009_6020del, NC_000004.12:g.3767569_3767588=, NC_000004.11:g.3769304_3769315del, 551891839, NC_000004.12:g.3767577_3767588del, NG_012640.1:g.6002_6013delGGGGCGGGGCCG, rs61767072 +PA166210002 rs61767420 NC_000001.11:73382927 1 1 0 0 0 NC_000001.10:g.73848610=, NC_000001.10:g.73848610A>T, rs61767420, NC_000001.10:g.73848610A>G, NC_000001.11:g.73382927A>G, NC_000001.11:g.73382927A>T, 61767420, NC_000001.11:g.73382927= +PA166170205 rs61786598 PA145 DPYD NC_000001.11:97720166 1 0 0 0 0 NC_000001.10:g.98185722A>T, 61786598, rs61786598, NG_008807.2:g.205894T>A, NC_000001.11:g.97720166A>T, NC_000001.11:g.97720166=, NG_008807.2:g.205894=, NC_000001.10:g.98185722= +PA166170204 rs61786599 PA145 DPYD NC_000001.11:97720168 1 0 0 0 0 rs61786599, 61786599, NC_000001.11:g.97720168A>T, NC_000001.11:g.97720168=, NC_000001.10:g.98185724=, NG_008807.2:g.205892=, NC_000001.10:g.98185724A>T, NG_008807.2:g.205892T>A +PA166170202 rs61787828 PA145 DPYD NC_000001.11:97921399 1 0 0 0 0 NG_008807.2:g.4661=, NC_000001.10:g.98386955A>G, NC_000001.11:g.97921399=, NG_008807.2:g.4661T>G, NC_000001.10:g.98386955=, NC_000001.10:g.98386955A>C, NC_000001.11:g.97921399A>C, rs61787828, 61787828, NC_000001.11:g.97921399A>G, NG_008807.2:g.4661T>C +PA166182337 rs61816456 NC_000001.11:105853440 1 1 0 0 0 NC_000001.11:g.105853440G>A, NC_000001.10:g.106396062=, rs61816456, NC_000001.11:g.105853440=, NC_000001.10:g.106396062G>A, 61816456 +PA166179969 rs618207 PA31945 OPRM1 NC_000006.12:154103535 1 0 0 0 0 NC_000006.11:g.154424670A>T, NC_000006.12:g.154103535A>T, NG_021208.2:g.98035A>G, 17276329, 618207, NC_000006.12:g.154103535=, NC_000006.11:g.154424670A>C, NC_000006.12:g.154103535A>C, NC_000006.11:g.154424670A>G, NG_021208.2:g.98035A>C, NG_021208.2:g.98035=, rs618207, NC_000006.11:g.154424670=, NG_021208.2:g.98035A>T, NC_000006.12:g.154103535A>G +PA166177898 rs61824877 NC_000001.11:200273504 1 1 0 0 0 61824877, rs61824877, NC_000001.10:g.200242632G>T, NC_000001.11:g.200273504=, NC_000001.10:g.200242632G>A, NC_000001.10:g.200242632=, NC_000001.11:g.200273504G>A, NC_000001.11:g.200273504G>T +PA166197261 rs61826952 PA134940645 RABGAP1L NC_000001.11:174668799 1 1 0 0 0 NC_000001.11:g.174668799=, NC_000001.10:g.174637937A>G, NC_000001.11:g.174668799A>G, rs61826952, NC_000001.10:g.174637937=, 79446461, 61826952 +PA166165161 rs61840266 PA134938043 DISP1 NC_000001.11:222860495 1 0 0 0 0 NC_000001.11:g.222860495=, NC_000001.10:g.223033837A>T, NC_000001.11:g.222860495A>T, NG_009243.2:g.50407=, NG_009243.2:g.50407A>T, NC_000001.10:g.223033837=, 61840266, rs61840266 +PA166154477 rs61886492 PA28205 FOLH1 NC_000011.10:49164722 1 1 0 0 0 NM_001193473.1:c.499C>T, NP_001180401.1:p.His460Tyr, NP_004467.1:p.His475Tyr, NP_001014986.1:p.His475Tyr, NP_001180402.1:p.His167Tyr, NC_000011.10:g.49164722=, NG_029170.1:g.48949C>T, NM_001193472.1:c.1378C>T, NM_004476.1:c.1423C>T, NC_000011.10:g.49164722G>A, NC_000011.9:g.49186274=, XM_011519958.1:c.1378C>T, NG_029170.1:g.48949=, NP_001180400.1:p.His460=, rs61886492, NM_001193471.1:c.1378C>T, XP_005252896.1:p.His307Tyr, NM_001014986.1:c.1423C>T, XP_011518260.1:p.His460Tyr, NC_000011.9:g.49186274G>A, XM_005252839.1:c.919C>T, 61886492, NP_001180400.1:p.His460Tyr +PA166154478 rs61888800 PA31891 BDNF NC_000011.10:27700731 1 1 0 0 0 NM_170732.4:c.-22+19615C>A, NM_001143806.1:c.-22+19698C>A, NM_001143805.1:c.-22+19913C>A, NM_001143813.1:c.-571C>A, NC_000011.10:g.27700731=, NM_001143814.1:c.-696C>A, NM_170733.3:c.-22+566C>A, NM_170731.4:c.3+20681C>A, NM_001143810.1:c.-59+240C>A, NM_001143809.1:c.66+240C>A, NC_000011.9:g.27722278G>T, NM_001143811.1:c.-422+240C>A, 61888800, NC_000011.9:g.27722278=, NM_001143807.1:c.-22+18780C>A, NM_001143808.1:c.-22+250C>A, NM_170734.3:c.-1325C>A, NM_001143812.1:c.-77C>A, NG_011794.1:g.26328C>A, NC_000011.10:g.27700731G>T, NG_011794.1:g.26328=, rs61888800, NM_001709.4:c.-589C>A +PA166176629 rs6190 PA181 NR3C1 NC_000005.10:143400772 1 0 0 0 0 NC_000005.10:g.143400772C>G, NG_009062.1:g.39741=, rs6190, NP_000167.1:p.Arg23=, NC_000005.9:g.142780337C>G, 6190, NC_000005.10:g.143400772C>T, NG_009062.1:g.39741G>C, NP_000167.1:p.Arg23Thr, NG_009062.1:g.39741G>A, NC_000005.10:g.143400772=, NP_000167.1:p.Arg23Lys, 386601896, NC_000005.9:g.142780337=, NC_000005.9:g.142780337C>T +PA166177196 rs61908402 PA25504 ANO2 NC_000012.12:5915594 1 1 0 0 0 NC_000012.11:g.6024760T>C, NC_000012.12:g.5915594=, 61908402, rs61908402, NC_000012.12:g.5915594T>C, NC_000012.11:g.6024760= +PA166177197 rs61908403 PA25504 ANO2 NC_000012.12:5915639 1 1 0 0 0 61908403, NC_000012.11:g.6024805G>A, rs61908403, NC_000012.12:g.5915639=, NC_000012.11:g.6024805=, NC_000012.12:g.5915639G>A +PA166177198 rs61908404 PA25504 ANO2 NC_000012.12:5916105 1 1 0 0 0 NC_000012.12:g.5916105=, 61908404, NC_000012.12:g.5916105C>T, rs61908404, NC_000012.11:g.6025271=, NC_000012.11:g.6025271C>T +PA166177199 rs61908405 PA25504 ANO2 NC_000012.12:5916164 1 1 0 0 0 61908405, rs61908405, NC_000012.12:g.5916164C>A, NC_000012.11:g.6025330=, NC_000012.12:g.5916164=, NC_000012.11:g.6025330C>A +PA166177200 rs61908406 PA25504 ANO2 NC_000012.12:5917081 1 1 0 0 0 rs61908406, NC_000012.12:g.5917081G>T, NC_000012.12:g.5917081=, NC_000012.12:g.5917081G>A, 61908406, NC_000012.11:g.6026247G>T, NC_000012.11:g.6026247G>A, NC_000012.11:g.6026247= +PA166177201 rs61908407 PA25504 ANO2 NC_000012.12:5917207 1 1 0 0 0 NC_000012.12:g.5917207=, NC_000012.11:g.6026373=, rs61908407, 61908407, NC_000012.11:g.6026373A>G, NC_000012.12:g.5917207A>G +PA166177202 rs61908408 PA25504 ANO2 NC_000012.12:5917289 1 1 0 0 0 rs61908408, 61908408, NC_000012.12:g.5917289A>G, NC_000012.11:g.6026455A>G, NC_000012.12:g.5917289=, NC_000012.11:g.6026455= +PA166177203 rs61908409 PA25504 ANO2 NC_000012.12:5917405 1 1 0 0 0 NC_000012.11:g.6026571=, 61908409, NC_000012.12:g.5917405C>G, NC_000012.12:g.5917405=, NC_000012.11:g.6026571C>G, rs61908409 +PA166177204 rs61908410 PA25504 ANO2 NC_000012.12:5917412 1 1 0 0 0 NC_000012.12:g.5917412=, NC_000012.12:g.5917412T>A, NC_000012.11:g.6026578=, NC_000012.11:g.6026578T>A, rs61908410, 61908410 +PA166177205 rs61908411 PA25504 ANO2 NC_000012.12:5918478 1 1 0 0 0 NC_000012.12:g.5918478C>T, NC_000012.11:g.6027644C>T, rs61908411, NC_000012.12:g.5918478=, 61908411, NC_000012.11:g.6027644= +PA166154287 rs619586 PA134935778 MALAT1 NC_000011.10:65498698 1 1 0 0 0 NC_000011.9:g.65266169=, rs619586, rs60317489, 619586, NR_002819.3:n.937A>G, 60317489, NC_000011.10:g.65498698A>G, NC_000011.9:g.65266169A>G, XR_247200.1:n.884A>G, NC_000011.10:g.65498698=, XR_247199.1:n.946A>G +PA166176617 rs6196 PA181 NR3C1 NC_000005.10:143281925 1 0 0 0 0 258749, 6196, NC_000005.10:g.143281925A>G, 2118723, NC_000005.9:g.142661490A>G, NC_000005.10:g.143281925=, NP_000167.1:p.Asn766=, NG_009062.1:g.158588=, 59212187, NG_009062.1:g.158588T>C, NC_000005.9:g.142661490=, rs6196 +PA166224162 rs61973267 PA134963132 NUDT15 NC_000013.11:48045806 1 0 0 0 0 NC_000013.11:g.48045806=, NC_000013.10:g.48619942=, NC_000013.11:g.48045806G>C, NC_000013.10:g.48619942G>A, NG_047021.1:g.13240G>C, NC_000013.10:g.48619942G>C, rs61973267, NG_047021.1:g.13240G>A, 61973267, NC_000013.11:g.48045806G>A, NG_047021.1:g.13240= +PA166210016 rs61974485 PA34249 ARID4A NC_000014.9:58299185 1 1 0 0 0 rs61974485, NG_052999.1:g.5801=, 61974485, NG_052999.1:g.5801T>C, NC_000014.8:g.58765903T>C, NC_000014.8:g.58765903=, NC_000014.9:g.58299185T>C, NC_000014.9:g.58299185= +PA166223061 rs62063838 PA166048977 RBFOX3 NC_000017.11:79117946 1 0 0 0 0 NC_000017.11:g.79117946=, NC_000017.10:g.77114028C>T, NG_053112.1:g.498258G>A, NC_000017.10:g.77114028=, 386495443, NG_053112.1:g.498258=, 62063838, NC_000017.11:g.79117946C>T, rs62063838 +PA166181241 rs620815 PA61 ATM NC_000011.10:108277605 1 0 0 0 0 59572958, rs620815, 1150200, 67922189, 61913730, 67922188, 620815, NC_000011.9:g.108148332=, NG_009830.1:g.59774=, NG_009830.1:g.59774T>C, NC_000011.10:g.108277605T>C, NC_000011.9:g.108148332T>A, NG_009830.1:g.59774T>A, NC_000011.10:g.108277605=, NC_000011.10:g.108277605T>A, NC_000011.9:g.108148332T>C +PA166200041 rs62097526 NC_000018.10:12291681 1 1 0 0 0 NC_000018.9:g.12291680=, NC_000018.10:g.12291681T>G, NC_000018.10:g.12291681=, rs62097526, 62097526, NC_000018.9:g.12291680T>G +PA166216422 rs62103056 NC_000018.10:43844132 1 1 0 0 0 rs62103056, 62103056, NC_000018.10:g.43844132G>A, NC_000018.9:g.41424097G>A, NC_000018.10:g.43844132=, NC_000018.9:g.41424097= +PA166155515 rs62107593 PA24685 AKT2 NC_000019.10:40287019 1 0 0 0 0 62107593, XM_011526621.1:c.-2055G>C, NC_000019.10:g.40287019=, NC_000019.9:g.40792926=, NG_012038.2:g.3340=, XM_011526620.1:c.-1656G>C, XR_935967.1:n.169+420C>G, NC_000019.10:g.40287019C>G, NM_001626.5:c.-1923G>C, XM_005258650.1:c.-1923G>C, rs62107593, XM_005258648.1:c.-1656G>C, NM_001243027.2:c.-2072G>C, NC_000019.9:g.40792926C>G, NM_001243028.2:c.-1979G>C, NG_012038.2:g.3340G>C, XM_011526622.1:c.-1923G>C +PA166154489 rs6214 PA29697 IGF1 NC_000012.12:102399791 1 0 0 0 0 XR_944536.1:n.5499G>A, NM_001111283.2:c.*2750G>A, XR_945277.1:n.582-4322C>T, NG_011713.1:g.85810G>A, 17847190, 6214, XR_945272.1:n.582-4322C>T, 3730225, XR_944535.1:n.5514G>A, NM_001111284.1:c.*2716G>A, XR_945273.1:n.532-4322C>T, rs60827480, rs3730225, rs6214, NC_000012.11:g.102793569=, NG_011713.1:g.85810=, XR_945270.1:n.582-4322C>T, NC_000012.12:g.102399791=, XR_945276.1:n.110-4322C>T, rs17847190, rs17882460, 60827480, NC_000012.12:g.102399791C>T, 386601958, XR_945275.1:n.138-4322C>T, NC_000012.11:g.102793569C>T, 17882460, XR_944534.1:n.5737G>A, XR_945271.1:n.582-4322C>T, NM_000618.4:c.*2716G>A, XR_945274.1:n.258-4322C>T, rs386601958 +PA166162576 rs62151109 PA38436 CLASP1 NC_000002.12:121644122 2 0 0 0 0 NC_000002.12:g.121644122C>T, rs62151109, NC_000002.11:g.122401698C>T, NC_000002.12:g.121644122=, 62151109, NC_000002.11:g.122401698= +PA166198801 rs62158853 PA29816 IL1RN NC_000002.12:113111989 1 0 0 0 0 rs62158853, NC_000002.12:g.113111989C>T, 62158853, NC_000002.11:g.113869566=, NC_000002.11:g.113869566C>T, NC_000002.12:g.113111989= +PA166198782 rs62158854 PA29816 IL1RN NC_000002.12:113113148 1 0 0 0 0 62158854, rs62158854, NG_021240.1:g.256=, NC_000002.11:g.113870725T>G, NC_000002.12:g.113113148=, NC_000002.12:g.113113148T>G, NC_000002.11:g.113870725=, NG_021240.1:g.256T>G +PA166185484 rs621849 PA26491 CHRNA5 NC_000015.10:78580519 2 0 0 0 0 NC_000015.10:g.78580519G>A, NC_000015.9:g.78872861G>A, NG_023328.1:g.20000=, 621849, NG_023328.1:g.20000G>A, NC_000015.10:g.78580519=, rs621849, 58105394, NC_000015.9:g.78872861= +PA166171044 rs62200793 PA162410599 ZNF804A NC_000002.12:184885915 1 1 0 0 0 NC_000002.12:g.184885915T>G, NC_000002.11:g.185750642=, NC_000002.11:g.185750642T>G, NC_000002.12:g.184885915T>C, NG_046950.1:g.292550T>C, NC_000002.11:g.185750642T>C, rs62200793, NG_046950.1:g.292550=, NG_046950.1:g.292550T>G, NC_000002.12:g.184885915=, 62200793 +PA166155967 rs62205366 PA175 GNAS NC_000020.11:58903138 2 1 0 0 0 NG_016194.2:g.68399T>C, XM_005260401.1:c.36-393T>C, XM_005260402.1:c.81-390T>C, NM_001309861.1:c.81-393T>C, NM_016592.3:c.*161-390T>C, NC_000020.11:g.58903138T>C, NM_001077489.3:c.213-393T>C, XM_005260397.1:c.162-393T>C, NM_001077488.3:c.258-390T>C, NM_001309840.1:c.81-393T>C, NM_001077490.2:c.*119-393T>C, 62205366, NG_016194.2:g.68399=, rs62205366, NR_003259.1:n.348-393T>C, NC_000020.10:g.57478193=, NG_016194.1:g.68399=, NM_080426.3:c.213-390T>C, NM_080425.3:c.2187-393T>C, NC_000020.10:g.57478193T>C, XM_005260400.1:c.36-393T>C, XM_005260396.1:c.201-393T>C, XR_244140.1:n.1305-390T>C, NC_000020.11:g.58903138=, NM_000516.5:c.258-393T>C, XM_005260398.1:c.117-393T>C, XM_005260399.1:c.36-393T>C, NG_016194.1:g.68399T>C +PA166156932 rs622342 PA329 SLC22A1 NC_000006.12:160151834 14 2 0 0 0 XM_006715552.1:c.1386-6682C>A, rs10399251, NM_153187.1:c.1386-4141C>A, 622342, NC_000006.12:g.160151834=, NC_000006.12:g.160151834C>A, rs622342, XM_005267104.1:c.810-2964C>A, NC_000006.12:g.160151834C>G, XM_005267102.3:c.1386-2964C>A, XM_011536074.1:c.810-2964C>A, NC_000006.11:g.160572866C>G, XM_005267105.1:c.810-2964C>A, XM_005267104.3:c.810-2964C>A, NC_000006.11:g.160572866C>A, XM_005267103.1:c.1386-2964C>A, XM_005267105.3:c.810-2964C>A, XM_005267102.1:c.1386-2964C>A, NM_003057.2:c.1386-2964C>A, rs56541921, rs59312327, NC_000006.11:g.160572866=, 10399251, 17202844, 56541921, 59312327, rs17202844 +PA166210023 rs62250713 PA162380882 CADM2 NC_000003.12:85464643 1 1 0 0 0 62250713, rs62250713, NC_000003.11:g.85513793=, NC_000003.12:g.85464643=, NC_000003.12:g.85464643A>G, NC_000003.11:g.85513793A>G, NC_000003.12:g.85464643A>T, NC_000003.11:g.85513793A>T +PA166273641 rs62283056 PA37365 WFS1 NC_000004.12:6274903 1 0 0 0 0 NC_000004.11:g.6276630=, NC_000004.11:g.6276630G>C, 62283056, NC_000004.12:g.6274903=, NC_000004.11:g.6276630G>T, NG_011700.1:g.10054=, rs62283056, NG_011700.1:g.10054G>C, NC_000004.12:g.6274903G>T, NC_000004.12:g.6274903G>C, NG_011700.1:g.10054G>T +PA166251021 rs62293298 PA37771 SLC2A9 NC_000004.12:9887219 1 0 0 0 0 NC_000004.12:g.9887219=, NG_011540.1:g.158030=, rs62293298, 62293298, NC_000004.11:g.9888843=, NG_011540.1:g.158030T>C, NC_000004.11:g.9888843A>G, NC_000004.12:g.9887219A>G +PA166249221 rs62293499 PA26559 CLDN11 NC_000003.12:170422365 2 0 0 0 0 62293499, NC_000003.12:g.170422365=, rs62293499, NC_000003.11:g.170140153=, NC_000003.11:g.170140153A>T, NC_000003.11:g.170140153A>C, NC_000003.12:g.170422365A>C, NC_000003.12:g.170422365A>T +PA166195441 rs62296959 PA361 UGT2B7 NC_000004.12:69097706 1 0 0 0 0 NC_000004.11:g.69963424G>A, rs62296959, NC_000004.11:g.69963424=, NC_000004.12:g.69097706=, NC_000004.12:g.69097706G>T, NC_000004.11:g.69963424G>T, 62296959, NC_000004.12:g.69097706G>A +PA166156692 rs62298861 PA361 UGT2B7 NC_000004.12:69098226 3 0 0 0 0 NC_000004.12:g.69098226A>G, XM_011532229.1:c.722-314A>G, XM_011532230.1:c.722-314A>G, rs62298861, XM_011532231.1:c.-26-314A>G, NC_000004.11:g.69963944=, 62298861, NM_001074.2:c.722-314A>G, NC_000004.11:g.69963944A>G, XM_005265702.1:c.-26-314A>G, NC_000004.12:g.69098226=, XM_005265702.2:c.-26-314A>G +PA166177126 rs62319299 NC_000004.12:129253015 1 1 0 0 0 NC_000004.12:g.129253015=, NC_000004.11:g.130174170A>C, NC_000004.11:g.130174170=, 62319299, rs62319299, NC_000004.12:g.129253015A>G, NC_000004.12:g.129253015A>C, NC_000004.11:g.130174170A>G +PA166285521 rs62328061 PA164722277 METTL14 NC_000004.12:118689451 1 0 0 0 0 NC_000004.11:g.119610606A>T, NC_000004.11:g.119610606=, NC_000004.11:g.119610606A>G, rs62328061, NC_000004.12:g.118689451A>G, 62328061, NC_000004.12:g.118689451=, NC_000004.12:g.118689451A>C, NC_000004.12:g.118689451A>T, NP_066012.1:p.Glu79Asp, NP_066012.1:p.Glu79=, NC_000004.11:g.119610606A>C +PA166232210 rs623580 PA355 TPH1 NC_000011.10:18042430 1 0 0 0 0 NC_000011.9:g.18063977A>C, NG_011947.1:g.3359T>G, NC_000011.9:g.18063977=, 60476515, NC_000011.10:g.18042430A>C, rs623580, NG_011947.1:g.3359T>C, 623580, NG_011947.1:g.3359T>A, NC_000011.10:g.18042430=, NC_000011.9:g.18063977A>G, NC_000011.10:g.18042430A>T, NG_011947.2:g.3359T>C, NC_000011.10:g.18042430A>G, NG_011947.2:g.3359T>A, NG_011947.2:g.3359=, NC_000011.9:g.18063977A>T, NG_011947.1:g.3359=, NG_011947.2:g.3359T>G +PA166156892 rs62360865 NC_000005.10:84953973 1 0 0 0 0 NC_000005.10:g.84953973G>T, NC_000005.9:g.84249791G>T, NC_000005.9:g.84249791=, rs62360865, 62360865, NC_000005.9:g.84249791G>A, NC_000005.10:g.84953973=, NC_000005.10:g.84953973G>A +PA166259901 rs62368105 NC_000005.10:43969952 1 1 0 0 0 NC_000005.10:g.43969952A>G, NC_000005.9:g.43970054A>G, NC_000005.9:g.43970054A>T, NC_000005.10:g.43969952=, NC_000005.10:g.43969952A>T, NC_000005.9:g.43970054=, 77147440, 62368105, rs62368105 +PA166195563 rs62435418 PA29591 ICA1 NC_000007.14:8148016 1 1 0 0 0 NC_000007.14:g.8148016=, NC_000007.13:g.8187646=, 62435418, NC_000007.14:g.8148016G>A, NC_000007.13:g.8187646G>A, rs62435418, NC_000007.14:g.8148016G>T, NC_000007.13:g.8187646G>T +PA166257861 rs62436463 PA31945 OPRM1 NC_000006.12:154069472 1 4 0 0 0 NC_000006.12:g.154069472C>T, NG_021208.2:g.63972=, NC_000006.11:g.154390607C>T, NG_021208.2:g.63972C>T, rs62436463, 62436463, NC_000006.12:g.154069472=, NC_000006.11:g.154390607= +PA166165171 rs62442010 PA166165172 ZNF890P NC_000007.14:5135965 1 0 0 0 0 NC_000007.14:g.5135965=, rs62442010, NC_000007.13:g.5175596=, NC_000007.14:g.5135965C>A, NC_000007.13:g.5175596C>A, NC_000007.14:g.5135965C>T, NC_000007.14:g.5135965C>G, NC_000007.13:g.5175596C>T, 62442010, NC_000007.13:g.5175596C>G +PA166157501 rs62471956 PA427 CYP3A43 NC_000007.14:99823462 2 1 0 0 0 NG_007935.1:g.450G>A, NC_000007.14:g.99823462=, NC_000007.13:g.99421085G>A, NG_007935.1:g.450=, 62471956, NC_000007.13:g.99421085=, rs62471956, NC_000007.14:g.99823462G>A +PA166189142 rs62516101 PA32911 PAH NC_000012.12:102843683 2 2 0 0 0 NC_000012.11:g.103237461C>G, NP_000268.1:p.Val388Leu, NP_000268.1:p.Val388Met, NG_008690.2:g.119728=, NC_000012.12:g.102843683C>T, 62516101, rs62516101, NP_000268.1:p.Val388=, NC_000012.12:g.102843683C>G, NG_008690.2:g.119728G>A, NG_008690.2:g.119728G>C, NC_000012.11:g.103237461C>T, NC_000012.11:g.103237461=, NC_000012.12:g.102843683= +PA166154258 rs6254 PA33951 PTH NC_000011.10:13492716 1 0 0 0 0 NM_001316352.1:c.183-50G>A, 6254, 56632183, NG_008962.1:g.8305G>T, rs6254, 61242134, NG_008962.1:g.8305G>A, NC_000011.9:g.13514263C>A, NC_000011.10:g.13492716C>T, 17526181, NC_000011.9:g.13514263=, NC_000011.10:g.13492716C>A, rs17526181, rs56632183, rs61242134, NC_000011.10:g.13492716=, NG_008962.1:g.8305=, NC_000011.9:g.13514263C>T, NM_000315.3:c.87-50G>A +PA166157845 rs62576288 PA34890 RXRA NC_000009.12:134324891 1 1 0 0 0 rs62576288, NC_000009.11:g.137216737G>A, 62576288, NC_000009.12:g.134324891G>A, XM_005263408.1:c.-1741G>A, NC_000009.12:g.134324891=, NC_000009.11:g.137216737=, NW_004070868.1:g.138515G>A, NM_002957.5:c.-1741G>A +PA166154188 rs62621365 PA24679 AKR1C3 NC_000010.11:5102576 2 1 0 0 0 NC_000010.10:g.5144768C>A, XM_005277677.1:c.703C>A, XP_005252694.1:p.Arg235Cys, NP_003730.4:p.Arg258Cys, NG_047094.1:g.58811C>A, XM_005252637.1:c.703C>T, NM_003739.5:c.772C>A, NC_000010.11:g.5102576C>T, NP_001240837.1:p.Arg258Cys, NP_003730.4:p.Arg258=, NM_003739.5:c.772C>T, NC_000010.10:g.5144768C>T, NM_001253908.1:c.772C>A, NC_000010.11:g.5102576C>A, NP_003730.4:p.Arg258Ser, XP_005252694.1:p.Arg235Ser, NG_047094.1:g.58811=, NP_001240837.1:p.Arg258Ser, XM_005277677.1:c.703C>T, XP_005277734.1:p.Arg235Ser, NC_000010.10:g.5144768=, 62621365, NM_001253908.1:c.772C>T, NG_047094.1:g.58811C>T, NC_000010.11:g.5102576=, XP_005277734.1:p.Arg235Cys, XM_005252637.1:c.703C>A, rs62621365 +PA166185581 rs626283 PA162395057,PA134874063 MBOAT7,TMC4 NC_000019.10:54173307 1 0 0 0 0 17666084, rs626283, 59285762, NG_033045.2:g.21569=, NG_033045.2:g.21569G>C, NC_000019.9:g.54677001G>C, 626283, NC_000019.10:g.54173307=, NC_000019.10:g.54173307C>G +PA166177955 rs62638690 PA31945 OPRM1 NC_000006.12:154090110 1 1 0 0 0 NP_000905.3:p.Cys192Phe, NC_000006.11:g.154411245G>T, NC_000006.12:g.154090110G>T, NG_021208.2:g.84610=, rs62638690, 62638690, NP_000905.3:p.Cys192=, NC_000006.12:g.154090110=, NG_021208.2:g.84610G>T, NC_000006.11:g.154411245= +PA166154259 rs6265 PA31891,PA134953249 BDNF,BDNF-AS NC_000011.10:27658369 47 9 0 0 0 NM_001143816.1:c.196G>A, rs17855547, NP_001137288.1:p.Val66Met, NP_733928.1:p.Val66Met, XM_011520280.1:c.442G>A, NM_001143813.1:c.196G>A, NP_733931.1:p.Val66Met, NG_011794.1:g.68690G>A, NM_001143810.1:c.442G>A, NM_001143807.1:c.196G>A, NP_733927.1:p.Val74Met, 60760775, NC_000011.9:g.27679916=, NR_033313.1:n.434C>T, rs3829232, NM_001143814.1:c.196G>A, NP_001137285.1:p.Val66Met, NP_001137286.1:p.Val66Met, NM_001143806.1:c.196G>A, NP_001137283.1:p.Val66Met, rs16917222, NP_001137284.1:p.Val66Met, NC_000011.10:g.27658369=, NP_001137280.1:p.Val66Met, NR_033312.1:n.434C>T, XP_011518582.1:p.Val148Met, NM_170732.4:c.196G>A, NM_001143805.1:c.196G>A, NR_033315.1:n.434C>T, XM_005253060.1:c.442G>A, NR_033314.1:n.503C>T, 386602118, rs6265, XP_005253117.1:p.Val148Met, NM_001143808.1:c.196G>A, NM_001143812.1:c.196G>A, NP_001137281.1:p.Val95Met, XR_242808.1:n.352C>T, NP_733931.1:p.Val66=, NM_170733.3:c.196G>A, NM_001143809.1:c.283G>A, NP_733929.1:p.Val66Met, NM_170734.3:c.241G>A, NM_170735.5:c.196G>A, NP_001700.2:p.Val66Met, XR_242807.1:n.355C>T, rs386602118, NG_011794.1:g.68690=, NM_170731.4:c.220G>A, NP_733930.1:p.Val81Met, 6265, 16917222, 17855547, NP_001137277.1:p.Val66Met, 3829232, NC_000011.9:g.27679916C>T, NP_001137278.1:p.Val66Met, NP_001137282.1:p.Val148Met, NP_001137279.1:p.Val66Met, NR_002832.2:n.503C>T, NC_000011.10:g.27658369C>T, NM_001709.4:c.196G>A, rs60760775, NM_001143811.1:c.196G>A, XR_242809.1:n.224-802C>T +PA166156026 rs6267 PA117 COMT NC_000022.11:19962740 1 0 0 0 0 XM_011529891.1:c.214G>T, NC_000022.11:g.19962740=, XM_011529888.1:c.214G>T, rs6267, NC_000022.11:g.19962740G>T, XP_011528188.1:p.Ala110Ser, XP_011528189.1:p.Ala72Ser, NM_001135162.1:c.214G>T, NP_000745.1:p.Ala72Ser, NP_001128633.1:p.Ala72Ser, 17817484, XM_005261229.1:c.214G>T, XM_011529890.1:c.214G>T, XM_011529886.1:c.328G>T, NC_000022.11:g.19962740G>A, 60776956, NM_001135161.1:c.214G>T, XP_005261286.1:p.Ala72Ser, NC_000022.10:g.19950263G>T, 6267, XM_011529889.1:c.214G>T, rs17817484, rs60776956, NG_011526.1:g.26001G>T, NG_011526.1:g.26001=, NP_001128634.1:p.Ala72Ser, NR_039918.1:n.-1013G>T, XP_011528187.1:p.Ala110Ser, NM_000754.3:c.214G>T, NP_000745.1:p.Ala72Thr, XM_011529887.1:c.214G>T, NC_000022.10:g.19950263G>A, XP_011528190.1:p.Ala72Ser, XM_011529885.1:c.328G>T, XP_011528191.1:p.Ala72Ser, NP_009294.1:p.Ala22Ser, XP_011528193.1:p.Ala72Ser, NC_000022.10:g.19950263=, NG_011526.1:g.26001G>A, NP_000745.1:p.Ala72=, NM_007310.2:c.64G>T, XP_011528192.1:p.Ala72Ser +PA166156027 rs6269 PA117 COMT NC_000022.11:19962429 9 5 0 0 0 NM_001135161.1:c.1-98A>G, NM_001135162.1:c.1-98A>G, XM_011529890.1:c.-98A>G, NC_000022.11:g.19962429=, NM_007310.2:c.-248A>G, NC_000022.10:g.19949952=, XM_011529888.1:c.1-98A>G, XM_011529887.1:c.1-98A>G, NC_000022.11:g.19962429A>T, XM_005261229.1:c.-98A>G, XM_011529886.1:c.115-98A>G, NG_011526.1:g.25690A>G, XM_011529885.1:c.115-98A>G, NC_000022.11:g.19962429A>G, 3827293, XM_011529891.1:c.-98A>G, 6269, rs3827293, NG_011526.1:g.25690=, NC_000022.10:g.19949952A>T, XM_011529889.1:c.1-98A>G, NM_000754.3:c.1-98A>G, rs6269, NR_039918.1:n.-1324A>G, NG_011526.1:g.25690A>T, NC_000022.10:g.19949952A>G +PA166154260 rs6275 PA27478 DRD2 NC_000011.10:113412755 11 4 0 0 0 12791267, rs17115547, NM_016574.3:c.852T>C, rs61689984, 6275, rs3189087, NC_000011.10:g.113412755=, NG_008841.1:g.67525=, 17115547, XP_005271483.1:p.His312=, 3189087, NC_000011.9:g.113283477A>G, rs1130352, XM_005271426.1:c.936T>C, rs386602147, 1130352, NM_000795.3:c.939T>C, NP_057658.2:p.His284=, NC_000011.10:g.113412755A>G, rs6275, NG_008841.1:g.67525T>C, NP_000786.1:p.His313=, XP_005271482.1:p.His313=, NC_000011.9:g.113283477=, XM_005271425.1:c.939T>C, 386602147, rs12791267, 61689984 +PA166154261 rs6277 PA27478 DRD2 NC_000011.10:113412737 15 4 0 0 0 NP_057658.2:p.Pro290=, NM_000795.3:c.957C>T, rs1071576, 1071576, 3189090, rs17413837, 6277, XM_005271426.1:c.954C>T, NG_008841.1:g.67543=, rs6277, NC_000011.10:g.113412737G>A, NM_016574.3:c.870C>T, NG_008841.1:g.67543C>T, rs3189090, 1075651, NC_000011.10:g.113412737=, rs1075651, NP_000786.1:p.Pro319=, XM_005271425.1:c.957C>T, NC_000011.9:g.113283459=, XP_005271483.1:p.Pro318=, 17413837, NC_000011.9:g.113283459G>A, XP_005271482.1:p.Pro319= +PA166154262 rs6279 PA27478 DRD2 NC_000011.10:113410351 2 1 0 0 0 rs60748172, XM_005271425.1:c.*376C>G, NC_000011.10:g.113410351G>C, XM_005271426.1:c.*376C>G, rs17115505, 6279, NM_000795.3:c.*376C>G, rs6279, 12796734, NM_016574.3:c.*376C>G, NC_000011.9:g.113281073=, NG_008841.1:g.69929=, 17115505, 60748172, NC_000011.9:g.113281073G>C, NG_008841.1:g.69929C>G, rs12796734, NC_000011.10:g.113410351= +PA166156277 rs6280 PA27479 DRD3 NC_000003.12:114171968 27 11 0 0 0 XM_011512512.1:c.25G>A, XM_005247170.1:c.25G>A, rs6280, NG_008842.2:g.32440=, 52792556, NP_001269492.1:p.Gly9Ser, XM_011512510.1:c.25G>A, NM_001290809.1:c.25G>A, rs324025, NP_000787.2:p.Gly9=, NM_033663.5:c.25G>A, NC_000003.11:g.113890815=, XP_005247228.1:p.Gly9Ser, NM_000796.5:c.25G>A, NM_001282563.2:c.25G>A, XP_005247227.1:p.Gly9Ser, NP_387512.3:p.Gly9Ser, NC_000003.12:g.114171968C>T, rs117481259, XP_011510814.1:p.Gly9Ser, NP_000787.2:p.Gly9Ser, XP_011510813.1:p.Gly9Ser, rs59703514, XM_011512511.1:c.25G>A, XM_005247171.1:c.25G>A, 6280, NG_008842.2:g.32440G>A, 117481259, NC_000003.12:g.114171968=, NC_000003.11:g.113890815C>T, NP_001277738.1:p.Gly9Ser, rs52792556, 59703514, XP_011510812.1:p.Gly9Ser, 324025 +PA166156933 rs628031 PA329 SLC22A1 NC_000006.12:160139813 19 4 0 0 0 17202481, XM_005267104.1:c.646A>G, XM_006715552.1:c.1222A>G, XM_011536074.1:c.646A>G, 60990824, NP_003048.1:p.Met408=, NC_000006.12:g.160139813A>G, 628031, NP_694857.1:p.Met408Val, NC_000006.12:g.160139813A>C, NC_000006.11:g.160560845A>C, NM_003057.2:c.1222A>G, NM_153187.1:c.1222A>G, NC_000006.11:g.160560845=, NC_000006.11:g.160560845A>G, rs628031, NP_003048.1:p.Met408Leu, XM_005267104.3:c.646A>G, XM_005267105.1:c.646A>G, XM_005267102.1:c.1222A>G, XP_005267162.1:p.Met216Val, NC_000006.12:g.160139813=, XM_005267102.3:c.1222A>G, XM_005267103.1:c.1222A>G, NP_003048.1:p.Met408Val, rs17202481, XP_011534376.1:p.Met216Val, XP_005267159.1:p.Met408Val, XP_006715615.1:p.Met408Val, XP_005267160.1:p.Met408Val, XM_005267105.3:c.646A>G, XP_005267161.1:p.Met216Val, rs1086277, 1086277, rs60990824 +PA166160527 rs629301 PA26394 CELSR2 NC_000001.11:109275684 1 0 0 0 0 NC_000001.10:g.109818306=, NC_000001.11:g.109275684G>A, 17035882, NC_000001.11:g.109275684G>C, NC_000001.10:g.109818306G>T, NG_053900.1:g.1533G>T, NC_000001.11:g.109275684=, NG_052669.1:g.30980G>A, rs629301, NG_052669.1:g.30980G>C, 3738778, 56584542, NG_052669.1:g.30980=, NG_053900.1:g.1533G>C, NG_053900.1:g.1533G>A, 59258609, NC_000001.11:g.109275684G>T, 629301, 1626484, NC_000001.10:g.109818306G>C, NC_000001.10:g.109818306G>A, NG_053900.1:g.1533=, NG_052669.1:g.30980G>T +PA166156708 rs6295 PA192 HTR1A NC_000005.10:63962738 22 6 0 0 0 6295, NC_000005.9:g.63258565C>A, NC_000005.10:g.63962738C>A, NG_032816.1:g.4555=, NG_032816.1:g.4555G>C, NC_000005.9:g.63258565=, NG_032816.1:g.4555G>T, NC_000005.10:g.63962738=, NC_000005.9:g.63258565C>G, rs6295, NC_000005.10:g.63962738C>G, NM_000524.3:c.-1019G>C +PA166156903 rs6296 PA29549 HTR1B NC_000006.12:77462543 7 1 0 0 0 6296, XR_942707.1:n.545-11983C>G, XR_942709.1:n.545-11983C>G, 61223995, 3748086, rs3748086, rs6296, NM_000863.2:c.861G>C, NC_000006.11:g.78172260C>G, NC_000006.12:g.77462543C>G, XR_942708.1:n.545-11983C>G, rs61223995, NC_000006.11:g.78172260=, NP_000854.1:p.Val287=, NC_000006.12:g.77462543=, XR_942706.1:n.545-11983C>G +PA166154672 rs6305 PA193 HTR2A NC_000013.11:46892487 4 1 0 0 0 NG_013011.1:g.9548C>T, NC_000013.11:g.46892487G>A, NM_000621.4:c.516C>T, rs6305, NP_000612.1:p.Asp172=, NG_013011.1:g.9548=, NP_001159419.1:p.Asp88=, NM_001165947.2:c.264C>T, 6305, NC_000013.10:g.47466622=, NC_000013.10:g.47466622G>A, NC_000013.11:g.46892487= +PA166154673 rs6311 PA193 HTR2A NC_000013.11:46897343 61 18 0 0 0 61203218, NC_000013.10:g.47471478=, NG_013011.1:g.4692G>T, NC_000013.10:g.47471478C>T, 6311, NG_013011.1:g.4692=, rs6311, NC_000013.11:g.46897343C>T, NC_000013.11:g.46897343=, NM_000621.4:c.-998G>A, NC_000013.10:g.47471478C>A, rs61203218, 36213154, rs36213154, NG_013011.1:g.4692G>A, NM_001165947.2:c.-510G>A, NC_000013.11:g.46897343C>A +PA166154674 rs6312 PA193 HTR2A NC_000013.11:46896689 2 0 0 0 0 NP_001159419.1:p.Asp49Asn, 6312, NC_000013.10:g.47470824C>A, NM_000621.4:c.-344G>A, NP_001159419.1:p.Asp49=, NC_000013.10:g.47470824=, NC_000013.10:g.47470824C>G, NG_013011.1:g.5346G>T, NG_013011.1:g.5346=, NC_000013.11:g.46896689C>G, rs17289199, NC_000013.11:g.46896689=, 60357050, rs6312, NC_000013.11:g.46896689C>A, NP_001159419.1:p.Asp49Tyr, 17289199, 36212450, NC_000013.10:g.47470824C>T, rs60357050, NM_001165947.2:c.145G>A, rs36212450, NG_013011.1:g.5346G>A, NP_001159419.1:p.Asp49His, NG_013011.1:g.5346G>C, NC_000013.11:g.46896689C>T +PA166154675 rs6313 PA193 HTR2A NC_000013.11:46895805 55 18 0 0 0 NG_013011.1:g.6230=, rs386602276, NC_000013.11:g.46895805=, 3742280, 6313, NG_013011.1:g.6230C>T, NP_000612.1:p.Ser34=, rs3742280, 17367493, NC_000013.10:g.47469940=, NM_001165947.2:c.160+869C>T, 57425741, NG_013011.1:g.6230C>G, rs6313, NC_000013.11:g.46895805G>C, NC_000013.11:g.46895805G>A, NM_000621.4:c.102C>T, rs57425741, 386602276, NC_000013.10:g.47469940G>C, rs17367493, NC_000013.10:g.47469940G>A +PA166154676 rs6314 PA193 HTR2A NC_000013.11:46834899 9 2 0 0 0 17286902, 52815111, NP_000612.1:p.His452Tyr, NC_000013.11:g.46834899G>A, rs386602280, 57559933, NC_000013.10:g.47409034=, NG_013011.1:g.67136C>T, NP_001159419.1:p.His368Tyr, NM_001165947.2:c.1102C>T, rs17286902, rs52815111, NP_000612.1:p.His452=, NM_000621.4:c.1354C>T, 386602280, rs6314, NG_013011.1:g.67136=, 6314, NC_000013.10:g.47409034G>A, NC_000013.11:g.46834899=, rs57559933 +PA166157849 rs6318 PA194 HTR2C NC_000023.11:114731326 15 2 0 0 0 NP_001243689.1:p.Cys23Ser, NP_000859.1:p.Cys23Phe, XR_944301.1:n.209-550C>G, XR_944301.1:n.209-550G>C, NM_000868.3:c.68G=, NM_001256761.2:c.68G=, NG_012082.2:g.152242G>C, NM_000868.3:c.68G>C, rs6318, NM_001256760.2:c.68G=, XR_944300.1:n.209-550G>C, NP_000859.1:p.Cys23Ser, XR_944300.1:n.209-550C>G, NC_000023.11:g.114731326C>T, NM_001256761.2:c.68G>C, NG_012082.2:g.152242G>T, NC_000023.10:g.113965735G>C, NC_000023.10:g.113965735G>T, NP_001243690.1:p.Cys23=, NW_004070891.1:g.400128C=, NC_000023.11:g.114731326C>G, NP_001243690.1:p.Cys23Ser, NW_004070891.1:g.400128C>G, NC_000023.11:g.114731326C=, NG_012082.2:g.152242G=, NC_000023.10:g.113965735G=, NP_001243689.1:p.Cys23=, NM_001256760.2:c.68G>C, NC_000023.11:g.114731326=, NP_000859.1:p.Cys23=, 6318 +PA166184588 rs632499 PA31945 OPRM1 NC_000006.12:154104262 1 0 0 0 0 7758712, NC_000006.12:g.154104262A>T, NC_000006.11:g.154425397A>C, NG_021208.2:g.98762A>G, NC_000006.11:g.154425397A>T, NC_000006.11:g.154425397=, NG_021208.2:g.98762A>T, NC_000006.12:g.154104262A>C, NC_000006.12:g.154104262A>G, NG_021208.2:g.98762=, 632499, 60943444, NC_000006.12:g.154104262=, NC_000006.11:g.154425397A>G, NG_021208.2:g.98762A>C, rs632499 +PA166157700 rs63319 PA24692 ALDH1A1 NC_000009.12:72909868 1 0 0 0 0 XM_005251800.1:c.1201-109C>A, NC_000009.11:g.75524784G>T, NC_000009.12:g.72909868G>T, NM_000689.4:c.1201-109C>A, rs604561, NG_012249.1:g.48186C>G, NC_000009.12:g.72909868=, rs386602334, rs726191, rs63319, XM_005251801.1:c.1141-109C>A, 63319, NG_012249.1:g.48186C>T, NC_000009.12:g.72909868G>C, NC_000009.11:g.75524784G>C, NG_012249.1:g.48186=, 604561, NC_000009.12:g.72909868G>A, NC_000009.11:g.75524784G>A, NC_000009.11:g.75524784=, 726191, 386602334, NG_012249.1:g.48186C>A +PA166156709 rs6347 PA311 SLC6A3 NC_000005.10:1411297 7 0 0 0 0 rs57602838, rs3776509, 3776509, NC_000005.10:g.1411297=, NC_000005.9:g.1411412T>C, 57602838, NG_015885.1:g.39132=, NT_187547.1:g.102712A>G, NM_001044.4:c.1215A>G, rs6347, NP_001035.1:p.Ser405=, 6347, NG_015885.1:g.39132A>G, NC_000005.10:g.1411297T>C, NC_000005.9:g.1411412=, rs3181571, 3181571 +PA166170117 rs6350 PA311 SLC6A3 NC_000005.10:1443084 1 1 0 0 0 6350, NP_001035.1:p.Asn38=, NC_000005.10:g.1443084G>A, NG_015885.1:g.7345C>G, NC_000005.10:g.1443084G>C, rs6350, NC_000005.9:g.1443199=, NG_015885.1:g.7345C>T, NC_000005.9:g.1443199G>A, NG_015885.1:g.7345=, NC_000005.9:g.1443199G>C, NP_001035.1:p.Asn38Lys, 386602389, 59645135, NC_000005.10:g.1443084= +PA166154263 rs6356 PA351 TH NC_000011.10:2169721 7 0 0 0 0 NM_000360.3:c.241G>A, 57599796, XM_011520335.1:c.253G>A, NC_000011.10:g.2169721C>A, 6356, NG_008128.1:g.7085G>A, NP_000351.2:p.Val81=, XM_005253100.1:c.253G>A, XM_005253101.1:c.241G>A, NP_954987.2:p.Val108Met, XP_011518637.1:p.Val85Met, NP_954986.2:p.Val112Met, NC_000011.9:g.2190951C>A, NG_008128.1:g.7085=, rs6356, NC_000011.9:g.2190951C>T, XM_005253099.1:c.253G>A, NM_199292.2:c.334G>A, NM_199293.2:c.322G>A, NC_000011.9:g.2190951=, rs57599796, XP_005253157.1:p.Val85Met, NC_000011.10:g.2169721C>T, XP_005253158.1:p.Val81Met, NC_000011.10:g.2169721=, XP_005253156.1:p.Val85Met, NG_008128.1:g.7085G>T, NP_000351.2:p.Val81Met, NP_000351.2:p.Val81Leu +PA166183581 rs6357 PA351 TH NC_000011.10:2167008 2 0 0 0 0 116841984, NC_000011.10:g.2167008C>T, NG_008128.1:g.9798=, NC_000011.9:g.2188238=, rs6357, 6357, NP_000351.2:p.Lys240=, NG_008128.1:g.9798G>A, NC_000011.10:g.2167008=, NC_000011.9:g.2188238C>T +PA166154843 rs637137 PA26491 CHRNA5 NC_000015.10:78581634 2 1 0 0 0 NM_000745.3:c.258+672T>A, NC_000015.9:g.78873976T>A, NG_023328.1:g.21115T>A, NG_023328.1:g.21115=, NC_000015.10:g.78581634=, XM_005254142.2:c.258+672T>A, XM_011521174.1:c.258+672T>A, 637137, NC_000015.10:g.78581634T>A, NM_001307945.1:c.258+672T>A, NC_000015.9:g.78873976=, rs637137, XM_005254142.1:c.258+672T>A +PA166155516 rs63749869 PA34896 RYR1 NC_000019.10:38580440 5 1 0 1 0 XP_006723382.1:p.Arg4850His, NC_000019.9:g.39071080=, XP_006723380.1:p.Arg4855His, NC_000019.9:g.39071080G>A, NC_000019.10:g.38580440=, XM_011527204.1:c.14579G>A, NC_000019.10:g.38580440G>A, NM_000540.2:c.14582G>A, NP_000531.2:p.Arg4861His, XM_006723319.1:c.14549G>A, 63749869, XP_011525506.1:p.Arg4860His, NG_008866.1:g.151741G>A, XP_011525507.1:p.Arg4832His, NP_000531.2:p.Arg4861=, NM_001042723.1:c.14567G>A, rs63749869, XM_006723317.1:c.14564G>A, NP_001036188.1:p.Arg4856His, XM_011527205.1:c.14495G>A, NG_008866.1:g.151741= +PA166156737 rs639174 PA142671060 DROSHA NC_000005.10:31433540 1 1 0 0 0 XM_005248293.1:c.2950-1862G>A, 57933113, NC_000005.9:g.31433647=, XM_005248292.2:c.3019-1862G>A, NG_051574.1:g.103636G>A, NC_000005.9:g.31433647C>T, NG_051574.1:g.103636=, NM_013235.4:c.3043-1862G>A, NC_000005.10:g.31433540C>T, XM_005248291.2:c.3043-1862G>A, rs57933113, XM_005248293.2:c.2950-1862G>A, rs639174, XM_005248292.1:c.3019-1862G>A, XM_005248294.2:c.2839-1862G>A, XM_011514033.1:c.3043-1862G>A, NC_000005.10:g.31433540=, NM_001100412.1:c.2932-1862G>A, XM_005248294.1:c.2839-1862G>A, XM_005248291.1:c.3043-1862G>A, 639174 +PA166179970 rs639855 PA31945 OPRM1 NC_000006.12:154115579 1 0 0 0 0 NG_021208.2:g.110079C>A, 56471987, NG_021208.2:g.110079C>G, NG_021208.2:g.110079=, NC_000006.11:g.154436714=, 639855, 58637499, NC_000006.11:g.154436714C>A, 111182156, NC_000006.12:g.154115579C>G, rs639855, NC_000006.12:g.154115579C>A, 60328045, NC_000006.12:g.154115579=, NC_000006.11:g.154436714C>G +PA166303141 rs640198 PA30871 MMP13 NC_000011.10:102954362 1 0 0 0 0 NC_000011.10:g.102954362T>G, 386602548, NG_021404.1:g.6373A>C, 59887371, 640198, NC_000011.10:g.102954362=, NG_021404.1:g.6373=, 17860531, NC_000011.9:g.102825091T>C, rs640198, 3765621, NG_021404.1:g.6373A>G, NC_000011.9:g.102825091=, NC_000011.9:g.102825091T>G, NC_000011.10:g.102954362T>C +PA166156934 rs641153 PA25341 CFB NC_000006.12:31946403 1 0 0 0 0 NC_000006.11:g.31914180G=, NT_167249.1:g.3246890G=, NT_113891.2:g.3423936G=, NP_001701.2:p.Arg32Leu, NT_167249.1:g.3246890G>A, NG_011730.1:g.23915G>T, NT_167246.1:g.3257000A=, 150343783, NT_167248.2:g.3202378G>A, NT_167246.2:g.3251380A>G, NG_011730.1:g.23915G>A, NT_167248.1:g.3207974G>A, NT_167246.1:g.3257000A>G, NT_167247.1:g.3294024G=, rs150343783, 115388724, NG_011730.1:g.23915G=, NC_000006.11:g.31914180G>T, NT_167247.2:g.3288439G>A, NC_000006.11:g.31914180=, NG_008191.1:g.5460G>T, rs641153, NT_113891.2:g.3423936G>A, NT_167247.1:g.3294024G>A, rs113153662, NT_167249.2:g.3247592G=, NG_008191.1:g.5460G>A, rs1130150, NC_000006.12:g.31946403=, NT_167246.2:g.3251380A=, NM_001710.5:c.95G>A, NT_167247.2:g.3288439G=, rs281865546, NT_113891.3:g.3423830G>A, NC_000006.12:g.31946403G>A, NC_000006.12:g.31946403G=, NG_011730.1:g.23915=, NT_167245.2:g.3194183G>A, 281865546, NT_167245.1:g.3199768G>A, NG_008191.1:g.5460=, NM_001710.5:c.95G=, NC_000006.11:g.31914180G>A, NT_167249.2:g.3247592G>A, 641153, 113153662, NP_001701.2:p.Arg32=, NT_167245.1:g.3199768G=, NT_167245.2:g.3194183G=, NT_167248.1:g.3207974G=, NT_167248.2:g.3202378G=, rs115388724, NP_001701.2:p.Arg32Gln, NG_008191.1:g.5460G=, 1130150, NT_113891.3:g.3423830G=, NC_000006.12:g.31946403G>T +PA166241861 rs6413420 PA129 CYP2E1 NC_000010.11:133527325 1 0 0 0 0 NG_008383.1:g.4963=, NG_055447.1:g.3775=, 6413420, 17453645, rs6413420, NC_000010.11:g.133527325=, NC_000010.10:g.135340829G>T, NC_000010.11:g.133527325G>T, NC_000010.10:g.135340829=, NG_055447.1:g.3775G>T, 61561201, NG_008383.1:g.4963G>T +PA166154073 rs6413432 PA129,PA27535 CYP2E1,DUX1 NC_000010.11:133535040 15 1 0 0 0 NG_008383.1:g.12678=, NC_000010.11:g.133535040=, rs6413432, 6413432, NC_000010.10:g.135348544=, NC_000010.11:g.133535040T>A, NG_008383.1:g.12678T>A, NM_000773.3:c.967+1143T>A, XM_005252665.1:c.1027+1143T>A, NC_000010.10:g.135348544T>A +PA166154074 rs6413438 PA124 CYP2C19 NC_000010.11:94781858 21 3 3 0 0 NG_008384.3:g.24178=, NC_000010.10:g.96541615=, NP_000760.1:p.Pro227=, NM_000769.2:c.680C>T, NC_000010.11:g.94781858C>T, NP_000760.1:p.Pro227Leu, NC_000010.11:g.94781858=, NG_008384.3:g.24178C>T, NC_000010.10:g.96541615C>T, rs6413438, NM_000769.1:c.680C>T, 6413438 +PA166155425 rs6413474 PA121 CYP2A6 NC_000019.10:40843854 1 1 1 0 0 XM_005258568.1:c.1274A>G, 60400926, NG_008377.1:g.11594A>G, NG_008377.1:g.11594=, rs28399467, rs6413474, XP_005258625.1:p.Lys425Arg, 6413474, NP_000753.3:p.Lys476Arg, NC_000019.9:g.41349759=, NC_000019.10:g.40843854T>C, 28399467, NC_000019.10:g.40843854=, NM_000762.5:c.1427A>G, NP_000753.3:p.Lys476=, NC_000019.9:g.41349759T>C +PA166157784 rs6413517 PA34890 RXRA NC_000009.12:134429410 1 1 0 0 0 NM_001291920.1:c.962+170T>G, NC_000009.12:g.134429410T>G, XM_005263409.1:c.962+170T>G, NC_000009.11:g.137321256=, NM_001291921.1:c.752+170T>G, rs34307245, rs6413517, NC_000009.11:g.137321256T>G, 6413517, NM_002957.5:c.1043+170T>G, 34307245, NC_000009.12:g.134429410= +PA166185582 rs641738 PA162395057,PA134874063 MBOAT7,TMC4 NC_000019.10:54173068 1 0 0 0 0 NC_000019.9:g.54676763C>T, NP_653287.2:p.Glu17Gly, NG_033045.2:g.21808A>T, rs641738, NG_033045.2:g.21808=, NP_653287.2:p.Glu17Ala, 61242378, NC_000019.10:g.54173068T>G, 641738, NC_000019.10:g.54173068T>A, NC_000019.9:g.54676763C>A, NC_000019.10:g.54173068T>C, NG_033045.2:g.21808A>C, NC_000019.10:g.54173068=, NG_033045.2:g.21808A>G, NP_653287.2:p.Glu17=, NP_653287.2:p.Glu17Val, NC_000019.9:g.54676763C>G +PA166210001 rs6421482 PA33129 PDE4B NC_000001.11:65954222 1 1 0 0 0 NC_000001.11:g.65954222A>G, NC_000001.11:g.65954222A>T, NG_029038.1:g.166713A>G, rs6421482, 6421482, NC_000001.10:g.66419905A>G, NC_000001.10:g.66419905A>T, NC_000001.11:g.65954222=, NC_000001.10:g.66419905=, NG_029038.1:g.166713A>T, NG_029038.1:g.166713= +PA166183863 rs642489 PA31945 OPRM1 NC_000006.12:154121541 1 0 0 0 0 17210940, 60252124, NC_000006.12:g.154121541=, 59979825, NG_021208.2:g.116041=, NC_000006.11:g.154442676G>T, NC_000006.12:g.154121541G>T, NG_021208.2:g.116041G>A, rs642489, NC_000006.11:g.154442676=, NC_000006.11:g.154442676G>A, NG_021208.2:g.116041G>T, 642489, NC_000006.12:g.154121541G>A +PA166153781 rs6427528 PA26242 CD84 NC_000001.11:160546518 4 1 0 0 0 NC_000001.10:g.160516308A>G, NC_000001.11:g.160546518=, NM_003874.3:c.*1738T>C, XM_011510095.1:c.*1738T>C, 57622592, rs6427528, NC_000001.11:g.160546518A>G, XM_005245568.1:c.*1738T>C, XR_922203.1:n.611+9331A>G, NM_001184879.1:c.*1738T>C, NM_001184881.1:c.*1808T>C, NM_001184882.1:c.*1738T>C, XM_011510094.1:c.*1738T>C, NC_000001.10:g.160516308=, rs57622592, 6427528 +PA166153582 rs642990 PA30968 MRPL37 NC_000001.11:54222843 1 1 0 0 0 NC_000001.10:g.54688516T>G, rs12731643, 642990, XM_005270920.1:c.1195-2282T>C, XM_005270920.2:c.1195-2282T>C, NC_000001.10:g.54688516T>C, NC_000001.10:g.54688516T>A, 12731643, rs642990, NC_000001.10:g.54688516=, NC_000001.11:g.54222843T>A, rs57078995, NC_000001.11:g.54222843T>C, 1768482, 57078995, rs1768482, NC_000001.11:g.54222843T>G, NC_000001.11:g.54222843= +PA166155742 rs6431558 PA37183 UGT1A8 NC_000002.12:233620997 1 1 0 0 0 NM_019076.4:c.855+2435C>T, rs58319724, NC_000002.12:g.233620997C>T, NG_002601.2:g.36254C>T, NC_000002.11:g.234529643=, NC_000002.11:g.234529643C>T, rs6431558, NC_000002.12:g.233620997=, NG_002601.2:g.36254=, 6431558, 58319724 +PA166321462 rs6431564 PA34202 RAMP1 NC_000002.12:237905305 1 0 0 0 0 NC_000002.12:g.237905305A>G, rs6431564, 6431564, NC_000002.12:g.237905305=, NC_000002.11:g.238813947=, NC_000002.11:g.238813947A>G +PA166155743 rs6431625 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233729266 1 0 0 0 0 XR_241240.1:n.1022+35401T>C, NP_061966.1:p.Val47=, NM_019078.1:c.867+15408T>C, NM_019076.4:c.856-37768T>C, NC_000002.12:g.233729266=, NP_061966.1:p.Val47Asp, XR_241241.1:n.942-37768T>C, NC_000002.11:g.234637912T>G, NG_002601.2:g.144523=, NP_061966.1:p.Val47Ala, NM_021027.2:c.856-37768T>C, NM_019093.2:c.140T>C, NM_019077.2:c.856-37768T>C, NG_002601.2:g.144523T>A, NG_002601.2:g.144523T>C, NM_205862.1:c.60+35401T>C, NC_000002.11:g.234637912T>A, NC_000002.11:g.234637912=, NC_000002.11:g.234637912T>C, 61313666, NG_002601.2:g.144523T>G, rs17864457, XR_241238.1:n.923+9579T>C, NC_000002.12:g.233729266T>A, rs61313666, rs6431625, NM_001072.3:c.861+35401T>C, 6431625, NM_019075.2:c.856-37768T>C, NC_000002.12:g.233729266T>G, NP_061966.1:p.Val47Gly, NC_000002.12:g.233729266T>C, 17864457, NM_007120.2:c.867+9579T>C +PA166155744 rs6432512 PA142670838 TANC1 NC_000002.12:159043401 1 1 0 0 0 XM_011512052.1:c.-59C>T, XM_011512055.1:c.-15-22495C>T, NC_000002.11:g.159899913=, XM_006712812.2:c.-15-22495C>T, XM_006712810.2:c.-15-22495C>T, NM_001145909.1:c.-15-22495C>T, rs6432512, 6432512, NC_000002.12:g.159043401=, XM_011512048.1:c.4-22495C>T, NC_000002.12:g.159043401C>T, NM_033394.2:c.-15-22495C>T, XM_011512053.1:c.-15-22495C>T, XM_011512051.1:c.-15-22495C>T, NC_000002.11:g.159899913C>T, XM_011512058.1:c.-15-22495C>T +PA166156406 rs6438552 PA29009 GSK3B NC_000003.12:119912967 3 1 0 0 0 NC_000003.12:g.119912967A>T, rs17465409, XM_006713610.1:c.609-157T>C, NC_000003.11:g.119631814=, NG_012922.1:g.186451T>A, rs58420116, NM_002093.3:c.609-157T>C, 58420116, NG_012922.1:g.186451T>C, NC_000003.11:g.119631814A>T, NM_001146156.1:c.609-157T>C, NC_000003.12:g.119912967A>G, 17465409, NG_012922.1:g.186451T>G, NC_000003.12:g.119912967=, NG_012922.1:g.186451=, NC_000003.12:g.119912967A>C, XM_006713611.1:c.609-157T>C, NC_000003.11:g.119631814A>G, rs6438552, 6438552, NC_000003.11:g.119631814A>C +PA166180116 rs644261 PA31945 OPRM1 NC_000006.12:154121116 2 0 0 0 0 NC_000006.12:g.154121116G>T, 17174991, NG_021208.2:g.115616G>C, NG_021208.2:g.115616G>A, NC_000006.12:g.154121116=, 644261, NC_000006.11:g.154442251G>T, NC_000006.11:g.154442251=, NC_000006.12:g.154121116G>C, rs644261, NG_021208.2:g.115616G>T, NC_000006.11:g.154442251G>A, NC_000006.11:g.154442251G>C, NG_021208.2:g.115616=, NC_000006.12:g.154121116G>A +PA166156407 rs6443624 PA33308 PIK3CA NC_000003.12:179179886 2 0 0 0 0 NC_000003.12:g.179179886C>A, NG_012113.2:g.36364=, NG_012113.2:g.36364C>A, NC_000003.11:g.178897674C>A, XM_011512894.1:c.-76-18864C>A, NM_006218.2:c.-76-18864C>A, XM_006713658.2:c.-76-18864C>A, 57811046, 6443624, NC_000003.11:g.178897674=, rs6443624, rs57811046, NC_000003.12:g.179179886= +PA166177550 rs6443930 PA134866755 HTR3D NC_000003.12:184036506 2 0 0 0 0 NP_872343.2:p.Gly36Val, NG_012750.1:g.9963G>C, NC_000003.11:g.183754294G>T, NG_012750.1:g.9963G>A, NC_000003.12:g.184036506G>C, NC_000003.12:g.184036506G>A, NP_872343.2:p.Gly36Ala, NC_000003.12:g.184036506=, NC_000003.11:g.183754294G>A, NG_012750.1:g.9963G>T, NC_000003.11:g.183754294=, 6443930, rs6443930, NG_012750.1:g.9963=, NP_872343.2:p.Gly36Asp, NC_000003.11:g.183754294G>C, NC_000003.12:g.184036506G>T, NP_872343.2:p.Gly36= +PA166179941 rs6443950 PA134900226 HTR3E NC_000003.12:184099939 2 0 0 0 0 60384169, NC_000003.11:g.183817727A>T, NG_012452.1:g.4761A>T, NC_000003.12:g.184099939A>T, NC_000003.11:g.183817727A>G, NG_012452.1:g.4761=, 17570757, 6443950, rs6443950, NC_000003.12:g.184099939=, NG_012452.1:g.4761A>G, NC_000003.12:g.184099939A>G, NC_000003.11:g.183817727= +PA166156599 rs6447003 PA24933 AREG NC_000004.12:74521197 1 0 0 0 0 NC_000004.12:g.74521197=, 17476698, NW_003571035.1:g.4705G>C, NC_000004.11:g.75386914G>T, NC_000004.12:g.74521197G>C, 61199787, 6447003, rs6447003, NC_000004.11:g.75386914=, rs17476698, NC_000004.11:g.75386914G>C, NC_000004.12:g.74521197G>T, rs61199787 +PA166180114 rs645027 PA31945 OPRM1 NC_000006.12:154120995 1 0 0 0 0 rs645027, 645027, NC_000006.11:g.154442130A>G, 17181387, NG_021208.2:g.115495A>G, NG_021208.2:g.115495=, NC_000006.12:g.154120995=, NC_000006.12:g.154120995A>G, NC_000006.11:g.154442130= +PA166165289 rs6453253 NC_000005.10:76838952 1 0 0 0 0 NC_000005.9:g.76134777C>G, NC_000005.10:g.76838952=, NC_000005.9:g.76134777=, 60660352, NC_000005.10:g.76838952C>A, NC_000005.9:g.76134777C>A, 6453253, rs6453253, 58892689, NC_000005.10:g.76838952C>G +PA166157108 rs6454674 PA26681 CNR1 NC_000006.12:88163211 2 1 0 0 0 NM_001160258.1:c.-207+1046A>C, NM_001160259.1:c.-64+2536A>C, XM_011535424.1:c.-255+2592A>C, XM_011535427.1:c.-366+1046A>C, XM_011535428.1:c.-64+1046A>C, NC_000006.11:g.88872930T>G, rs6454674, NC_000006.11:g.88872930=, NM_001160226.1:c.-207+2592A>C, XM_005248652.1:c.-80+2592A>C, NC_000006.12:g.88163211T>G, XM_011535426.1:c.-413+1046A>C, NM_016083.4:c.-64+2592A>C, XM_005248651.1:c.-64+2592A>C, XM_011535425.1:c.-255+1046A>C, 6454674, NC_000006.12:g.88163211=, XM_005248649.1:c.-318A>C, XM_006715330.2:c.-64+3365A>C +PA166175826 rs645544 PA134924114 SLC9A8 NC_000020.11:49885069 1 0 0 0 0 NC_000020.11:g.49885069A>T, NC_000020.11:g.49885069A>C, rs645544, 645544, NC_000020.11:g.49885069A>G, NC_000020.10:g.48501606A>G, NC_000020.10:g.48501606=, NC_000020.10:g.48501606A>C, 17786256, NC_000020.10:g.48501606A>T, NC_000020.11:g.49885069= +PA166157109 rs6458232 NC_000006.12:41661988 1 0 0 0 0 6458232, NC_000006.12:g.41661988=, NC_000006.12:g.41661988C>A, 59690886, rs6458232, rs59690886, NC_000006.11:g.41629726C>A, NC_000006.11:g.41629726= +PA166157410 rs6461639 PA134902361 RAPGEF5 NC_000007.14:22147337 2 0 0 0 0 XM_005249917.1:c.640-318A>G, rs17765408, NC_000007.13:g.22186955=, 61523888, NC_000007.14:g.22147337=, NC_000007.13:g.22186955T>A, XM_005249915.1:c.1510-318A>G, NC_000007.13:g.22186955T>C, rs10362088, NC_000007.14:g.22147337T>C, XM_005249914.2:c.1885-318A>G, 17765408, XM_011515652.1:c.898-318A>G, rs61523888, NC_000007.14:g.22147337T>A, XM_005249916.1:c.1426-318A>G, XM_005249914.1:c.1885-318A>G, NM_012294.3:c.1426-318A>G, 10362088, rs6461639, 6461639 +PA166160111 rs6463755 PA38657 GLCCI1 NC_000007.14:8062135 1 0 0 0 0 9639038, NC_000007.13:g.8101765C>G, 6463755, NG_032073.1:g.98392=, rs6463755, NC_000007.14:g.8062135C>T, NG_032073.1:g.98392C>T, NC_000007.14:g.8062135=, NC_000007.13:g.8101765C>T, 60539415, NG_032073.1:g.98392C>G, NC_000007.13:g.8101765=, NC_000007.14:g.8062135C>G +PA166157411 rs6465084 PA28992 GRM3 NC_000007.14:86774159 2 1 0 0 0 XM_011516089.1:c.468+8546A>G, NM_000840.2:c.468+8546A>G, NC_000007.13:g.86403475A>G, NC_000007.14:g.86774159A>G, XM_005250288.1:c.468+8546A>G, XM_011516090.1:c.468+8546A>G, rs10385355, rs6465084, XM_005250290.1:c.468+8546A>G, 6465084, NC_000007.14:g.86774159=, XM_005250286.1:c.468+8546A>G, XM_011516088.1:c.468+8546A>G, NC_000007.13:g.86403475=, 10385355, XM_005250289.1:c.101-64680A>G, XR_927721.1:n.2616T>C, XM_005250287.1:c.85-12102A>G +PA166157412 rs6465088 PA28992 GRM3 NC_000007.14:86841238 1 0 0 0 0 XM_005250287.1:c.2007+1333T>G, XM_011516088.1:c.1325-9132T>G, XM_005250286.1:c.2391+1333T>G, NC_000007.13:g.86470554T>G, rs57316790, NM_000840.2:c.2391+1333T>G, NC_000007.13:g.86470554=, rs6465088, 17161029, 6465088, NC_000007.14:g.86841238T>G, 57316790, 10487053, XM_005250289.1:c.1167+1333T>G, rs10487053, NC_000007.14:g.86841238=, XM_005250288.1:c.1325-9132T>G, rs17161029 +PA166157413 rs6467136 PA32958 PAX4 NC_000007.14:127524904 3 1 0 0 0 57595087, 10340096, 386602922, NC_000007.13:g.127164958A>G, NC_000007.14:g.127524904A>C, NC_000007.13:g.127164958A>C, 6467136, rs6467136, NC_000007.14:g.127524904A>G, rs10340096, NC_000007.13:g.127164958=, NC_000007.14:g.127524904=, XR_927939.1:n.387+10245T>C, rs57595087, rs386602922, NC_000007.13:g.127164958A>T, NC_000007.14:g.127524904A>T +PA166155273 rs646749 NC_000018.10:60215892 1 0 0 0 0 rs60191783, 386602927, 60191783, NC_000018.10:g.60215892G>A, NC_000018.9:g.57883125=, NC_000018.9:g.57883125G>A, rs646749, rs386602927, NC_000018.10:g.60215892=, 646749 +PA166153583 rs646776 PA26394 CELSR2 NC_000001.11:109275908 1 1 0 0 0 rs1624712, NG_052669.1:g.31204C>T, 1624712, NC_000001.10:g.109818530=, 646776, NG_053900.1:g.1757C>G, 58595816, NC_000001.11:g.109275908C>G, NC_000001.11:g.109275908=, rs58595816, NC_000001.10:g.109818530C>T, NG_052669.1:g.31204C>G, 386602928, NG_053900.1:g.1757=, rs646776, NC_000001.11:g.109275908C>T, NG_052669.1:g.31204=, NG_053900.1:g.1757C>T, XM_005270580.1:c.*1726C>T, NM_001408.2:c.*1859C>T, rs386602928, XM_005270580.3:c.*1726C>T, NC_000001.10:g.109818530C>G +PA166185488 rs647041 PA26491 CHRNA5 NC_000015.10:78588139 2 0 0 0 0 60258916, NC_000015.9:g.78880481=, 647041, NC_000015.9:g.78880481T>G, NG_023328.1:g.27620T>C, NG_023328.1:g.27620T>A, NG_023328.1:g.27620=, NC_000015.9:g.78880481T>C, NG_023328.1:g.27620T>G, NC_000015.9:g.78880481T>A, NC_000015.10:g.78588139T>A, NC_000015.10:g.78588139T>C, NC_000015.10:g.78588139=, NC_000015.10:g.78588139T>G, rs647041 +PA166184673 rs647192 PA31945 OPRM1 NC_000006.12:154101609 1 0 0 0 0 NG_021208.2:g.96109G>A, NC_000006.12:g.154101609G>C, NG_021208.2:g.96109G>C, NC_000006.12:g.154101609=, NC_000006.11:g.154422744G>A, NG_021208.2:g.96109=, rs647192, NC_000006.12:g.154101609G>A, 647192, NC_000006.11:g.154422744=, NC_000006.11:g.154422744G>C, 61366184 +PA166184674 rs647303 NC_000006.12:153962074 1 0 0 0 0 rs647303, 57240798, 647303, NC_000006.11:g.154283209=, NC_000006.11:g.154283209C>T, NC_000006.12:g.153962074=, NC_000006.12:g.153962074C>T, NC_000006.11:g.154283209C>G, NC_000006.12:g.153962074C>G +PA166157620 rs6473187 PA142671636 SPIDR NC_000008.11:47571396 1 0 0 0 0 NC_000008.11:g.47571396G>A, NM_001080394.3:c.1098-24415G>A, XM_011517501.1:c.663-24415G>A, XM_005251197.1:c.576-24415G>A, XM_006716444.2:c.348-24415G>A, XM_005251196.1:c.579-24415G>A, XM_005251199.1:c.165-24415G>A, XM_005251198.1:c.348-24415G>A, XM_011517500.1:c.978-24415G>A, rs59757374, XM_005251195.1:c.606-24415G>A, XM_005251194.1:c.627-24415G>A, NR_104581.1:n.827-24415G>A, XM_011517503.1:c.600-24415G>A, XM_011517502.1:c.627-24415G>A, XM_011517505.1:c.30-24415G>A, XM_011517497.1:c.1098-24415G>A, XM_005251191.2:c.1098-24415G>A, XM_011517504.1:c.45-24415G>A, XM_005251200.1:c.30-24415G>A, XM_011517506.1:c.-151-24415G>A, XM_005251190.1:c.918-24415G>A, NM_001282919.1:c.918-24415G>A, XM_005251191.1:c.1098-24415G>A, XM_005251197.3:c.576-24415G>A, XM_006716443.2:c.918-24415G>A, XM_005251189.1:c.1098-24415G>A, XM_005251195.3:c.606-24415G>A, XM_005251198.3:c.348-24415G>A, XM_005251193.2:c.1098-24415G>A, XM_011517498.1:c.1098-24415G>A, NC_000008.10:g.48483958G>A, XM_005251199.3:c.165-24415G>A, XR_242455.1:n.1121-24415G>A, NC_000008.10:g.48483958=, NM_001282916.1:c.888-24415G>A, XM_005251189.2:c.1098-24415G>A, XM_005251193.1:c.1098-24415G>A, XM_005251192.1:c.888-24415G>A, XM_006716445.2:c.12-24415G>A, rs6473187, 59757374, 6473187, XM_011517499.1:c.1098-24415G>A, NC_000008.11:g.47571396= +PA166183884 rs6473797 PA31943 OPRK1 NC_000008.11:53240422 8 2 0 0 0 6473797, NC_000008.10:g.54152982T>C, NC_000008.10:g.54152982=, rs6473797, NC_000008.11:g.53240422T>C, NC_000008.11:g.53240422= +PA166184293 rs6473799 PA31943 OPRK1 NC_000008.11:53240563 1 0 0 0 0 rs6473799, NC_000008.11:g.53240563A>G, NC_000008.10:g.54153123=, 6473799, 56518230, NC_000008.11:g.53240563=, NC_000008.10:g.54153123A>G, 58156442 +PA166177403 rs6474387 PA29776 IKBKB NC_000008.11:42328734 1 0 0 0 0 NC_000008.10:g.42186252T>C, 56584823, NC_000008.10:g.42186252T>A, 57739515, NC_000008.11:g.42328734=, NC_000008.10:g.42186252T>G, 56888421, NG_041793.1:g.62433T>A, 17875726, NG_041793.1:g.62433T>C, NC_000008.11:g.42328734T>G, NC_000008.11:g.42328734T>A, NG_041793.1:g.62433T>G, rs6474387, NC_000008.11:g.42328734T>C, NG_041793.1:g.62433=, 6474387, NC_000008.10:g.42186252= +PA166205202 rs6474412 NC_000008.11:42695355 2 0 0 0 0 6474412, NC_000008.11:g.42695355C>G, NC_000008.10:g.42550498C>G, NC_000008.11:g.42695355=, rs6474412, NC_000008.10:g.42550498C>T, NC_000008.11:g.42695355C>T, NC_000008.10:g.42550498= +PA166185388 rs6474413 PA26495 CHRNB3 NC_000008.11:42695921 2 0 0 0 0 6474413, NC_000008.10:g.42551064C>T, 57291959, NC_000008.11:g.42695921=, rs6474413, NC_000008.11:g.42695921C>T, NC_000008.10:g.42551064= +PA166157785 rs6475448 PA30852 MLLT3 NC_000009.12:20497144 1 1 0 0 0 57055275, NC_000009.11:g.20497142G>T, 17752471, NM_004529.3:c.194-40358C>T, NC_000009.12:g.20497144G>T, NC_000009.11:g.20497142G>A, rs57055275, 6475448, NC_000009.11:g.20497142G>C, rs6475448, XM_005251460.1:c.185-40358C>T, NM_001286691.1:c.185-40358C>T, NC_000009.12:g.20497144G>A, NC_000009.12:g.20497144=, rs17752471, NC_000009.11:g.20497142=, NC_000009.12:g.20497144G>C +PA166159079 rs6475859 NC_000009.12:25639943 1 0 0 0 0 rs6475859, NC_000009.12:g.25639943=, NC_000009.11:g.25639941=, NC_000009.11:g.25639941A>T, NC_000009.12:g.25639943A>T, NC_000009.12:g.25639943A>C, 6475859, NC_000009.11:g.25639941A>C +PA166185599 rs6478241 PA25076 ASTN2 NC_000009.12:116490350 1 0 0 0 0 rs6478241, NC_000009.12:g.116490350A>G, NG_021409.2:g.929708T>C, NC_000009.11:g.119252629=, NC_000009.11:g.119252629A>T, NC_000009.11:g.119252629A>G, NC_000009.12:g.116490350A>T, NG_021409.1:g.929689T>C, NG_021409.1:g.929689=, NC_000009.12:g.116490350=, NG_021409.1:g.929689T>A, NG_021409.2:g.929708T>A, 6478241, 58562066, NG_021409.2:g.929708= +PA166177131 rs6479008 PA134991964 TEX10 NC_000009.12:100311309 1 1 0 0 0 61009237, NC_000009.12:g.100311309=, NC_000009.12:g.100311309C>A, NC_000009.11:g.103073591C>A, 6479008, NC_000009.12:g.100311309C>G, NC_000009.11:g.103073591=, rs6479008, NC_000009.11:g.103073591C>G +PA166183869 rs648007 PA31945 OPRM1 NC_000006.12:154101476 1 1 0 0 0 rs648007, 648007, NC_000006.12:g.154101476A>G, NG_021208.2:g.95976A>G, 56663624, NC_000006.11:g.154422611A>C, NG_021208.2:g.95976=, NC_000006.11:g.154422611A>G, NC_000006.12:g.154101476=, NC_000006.12:g.154101476A>C, NC_000006.11:g.154422611=, NG_021208.2:g.95976A>C +PA166161882 rs648743 PA27004 CTH NC_000001.11:70410096 3 0 0 0 0 648743, rs648743, NG_008041.1:g.3825=, NC_000001.11:g.70410096C>T, 60551916, NG_008041.1:g.3825C>T, NC_000001.11:g.70410096=, NC_000001.10:g.70875779C>T, 3806384, NC_000001.10:g.70875779= +PA166195021 rs6487504 NC_000012.12:25654374 1 1 0 0 0 NC_000012.11:g.25807308=, 61316101, NC_000012.12:g.25654374C>G, rs6487504, 6487504, NC_000012.12:g.25654374C>T, NC_000012.12:g.25654374=, NC_000012.11:g.25807308C>T, 61348926, NC_000012.11:g.25807308C>G +PA166176243 rs648893 PA31945 OPRM1 NC_000006.12:154117494 7 1 0 0 0 NC_000006.11:g.154438629=, NC_000006.11:g.154438629A>G, 648893, rs648893, NG_021208.2:g.111994=, NC_000006.12:g.154117494=, NC_000006.12:g.154117494A>G, NG_021208.2:g.111994A>G, 17174906, 58884622, 3778160 +PA166154917 rs6493497 PA27091,PA134882405 CYP19A1,GLDN NC_000015.10:51338638 3 2 0 0 0 NC_000015.10:g.51338638=, NC_000015.10:g.51338638G>A, NG_007982.1:g.4961=, rs57935430, NG_054933.1:g.2123=, NG_054998.1:g.218=, NC_000015.9:g.51630835G>A, rs56448991, rs6493497, NM_000103.3:c.-182C>T, NG_007982.1:g.4961C>T, NM_031226.2:c.-291C>T, 57935430, NG_054933.1:g.2123G>A, NG_054998.1:g.218G>A, 56448991, 6493497, NC_000015.9:g.51630835= +PA166154918 rs6494223 PA114 CHRNA7 NC_000015.10:32104256 1 1 0 0 0 NG_009216.1:g.78732C>G, XM_011547387.1:c.-194+2908C>T, NR_046324.1:n.352+2907C>T, XM_011521176.1:c.3+2909C>T, NC_000015.10:g.32104256C>T, NM_000746.5:c.240+2907C>T, NG_009216.1:g.78732=, XM_011521179.1:c.-194+2909C>T, NG_009216.1:g.78732C>T, NC_000015.10:g.32104256=, NC_000015.9:g.32396457C>T, NC_000015.10:g.32104256C>G, rs57430710, NC_000015.9:g.32396457C>G, XM_011521178.1:c.240+2909C>T, XM_011548894.1:c.3+2908C>T, XM_011547383.1:c.3+2908C>T, NM_001190455.2:c.327+2907C>T, XM_011548896.1:c.240+2908C>T, rs6494223, 57430710, 6494223, XM_011548897.1:c.-194+2908C>T, NC_000015.9:g.32396457=, NW_011332701.1:g.4276945C>T, NT_187660.1:g.4389397C>T, XM_011547386.1:c.240+2908C>T +PA166154288 rs649446 PA37165 UCP2 NC_000011.10:73984800 1 0 0 0 0 NC_000011.9:g.73695845=, rs649446, NC_000011.9:g.73695845C>T, 649446, NG_011478.1:g.3045=, NC_000011.10:g.73984800=, 60982407, NC_000011.10:g.73984800C>T, NG_011478.1:g.3045G>A, NM_003355.2:c.-2336G>A, rs60982407 +PA166185486 rs6495306 PA26491 CHRNA5 NC_000015.10:78573551 2 0 0 0 0 NC_000015.10:g.78573551G>C, NG_023328.1:g.13032=, NG_023328.1:g.13032G>C, NC_000015.9:g.78865893G>T, NG_023328.1:g.13032G>A, NC_000015.9:g.78865893=, NC_000015.10:g.78573551G>A, NG_023328.1:g.13032G>T, 17486209, NC_000015.9:g.78865893G>C, rs6495306, 6495306, NC_000015.10:g.78573551G>T, 56810863, NC_000015.9:g.78865893G>A, NC_000015.10:g.78573551= +PA166185409 rs6495307 PA113 CHRNA3 NC_000015.10:78597979 2 0 0 0 0 NC_000015.10:g.78597979C>T, NG_016143.1:g.28317=, rs6495307, 17408531, NC_000015.9:g.78890321=, 6495307, NC_000015.10:g.78597979=, 59300128, NC_000015.9:g.78890321C>T, NG_016143.1:g.28317G>A +PA166155073 rs6497759 PA36656 TNRC6A NC_000016.10:24790416 1 0 0 0 0 XP_011544098.1:p.Ala592Thr, XM_005255254.2:c.1774G>A, XP_011544093.1:p.Ala592Thr, XP_005255313.1:p.Ala560Thr, NM_014494.2:c.1774G>A, XP_005255314.1:p.Ala339Thr, NC_000016.9:g.24801737=, NC_000016.10:g.24790416G>A, XP_005255310.1:p.Ala560Thr, XP_011544096.1:p.Ala592Thr, XM_005255255.1:c.1678G>A, XP_011544095.1:p.Ala592Thr, 59562937, 52832662, NP_055309.2:p.Ala592=, NP_055309.2:p.Ala592Thr, NC_000016.9:g.24801737G>A, XM_005255253.1:c.1678G>A, XM_006721039.2:c.1348G>A, XP_006721102.1:p.Ala450Thr, XM_005255254.1:c.1774G>A, XM_005255257.1:c.1015G>A, rs52832662, rs59562937, NC_000016.10:g.24790416=, XM_011545792.1:c.1774G>A, XM_011545793.1:c.1774G>A, XP_005255312.1:p.Ala560Thr, XP_011544097.1:p.Ala592Thr, XM_011545791.1:c.1774G>A, XM_005255257.3:c.1015G>A, XM_005255256.1:c.1678G>A, XM_011545796.1:c.1774G>A, rs6497759, XM_011545794.1:c.1774G>A, 6497759, XP_011544094.1:p.Ala592Thr, XP_005255311.1:p.Ala592Thr, XM_011545795.1:c.1774G>A +PA166170800 rs6498169 PA162382340 CLEC16A NC_000016.10:11155472 1 0 0 0 0 NC_000016.9:g.11249329=, 56486251, 58531436, 59820793, NG_016757.1:g.215985=, NC_000016.10:g.11155472G>A, NG_016757.1:g.215985G>A, rs6498169, NC_000016.10:g.11155472=, NC_000016.9:g.11249329G>A, 6498169, 17684966 +PA166170000 rs6498486 PA27850 ERCC4 NC_000016.10:13919809 1 0 0 0 0 57891162, NC_000016.10:g.13919809A>C, NC_000016.10:g.13919809=, NC_000016.9:g.14013666A>C, NG_011442.1:g.4653A>C, NC_000016.9:g.14013666=, 6498486, rs6498486, NG_011442.1:g.4653= +PA166161540 rs6498588 NC_000016.10:15938949 1 1 0 0 0 6498588, NC_000016.10:g.15938949A>C, NC_000016.9:g.16032806=, NC_000016.9:g.16032806A>C, 59224286, NC_000016.10:g.15938949A>T, rs6498588, NC_000016.9:g.16032806A>T, NC_000016.9:g.16032806A>G, NC_000016.10:g.15938949=, NC_000016.10:g.15938949A>G +PA166155074 rs6499640 PA152208656 FTO NC_000016.10:53735765 1 0 0 0 0 rs59853521, NG_012969.1:g.36803G>A, NM_001080432.2:c.45+31536G>A, XM_011523313.1:c.45+31536G>A, 59853521, NC_000016.9:g.53769677=, NG_012969.1:g.36803=, XM_011523315.1:c.45+31536G>A, XM_011523316.1:c.45+31536G>A, NC_000016.9:g.53769677G>A, rs6499640, NC_000016.10:g.53735765G>A, 6499640, NC_000016.10:g.53735765=, XM_011523314.1:c.45+31536G>A +PA166176206 rs6500265 NC_000016.10:49912759 1 1 0 0 0 NC_000016.9:g.49946670=, NC_000016.10:g.49912759=, NC_000016.9:g.49946670C>G, NC_000016.10:g.49912759C>T, rs6500265, NC_000016.9:g.49946670C>T, 6500265, NC_000016.10:g.49912759C>G +PA166155075 rs6500843 PA166048951 RBFOX1 NC_000016.10:6820854 1 1 0 0 0 XM_005255390.1:c.-16+166204A>G, NG_011881.2:g.1586103=, XM_005255380.1:c.93+166204A>G, NG_011881.2:g.1586103A>C, NM_001308117.1:c.114+166204A>G, XM_005255385.1:c.-16+166204A>G, NC_000016.10:g.6820854=, NC_000016.10:g.6820854A>T, XM_005255384.2:c.-16+166204A>G, NG_011881.2:g.1586103A>G, 60379811, NG_011881.1:g.806724=, XM_005255389.1:c.114+166204A>G, XM_005255379.1:c.114+166204A>G, NC_000016.9:g.6870855A>T, NG_011881.1:g.806724A>C, NM_018723.3:c.-16+166204A>G, NG_011881.2:g.1586103A>T, NG_011881.1:g.806724A>G, NM_001142334.1:c.-16+46841A>G, XM_005255380.2:c.93+166204A>G, rs60379811, XM_011522544.1:c.462+166204A>G, NC_000016.9:g.6870855A>G, XM_005255378.1:c.462+166204A>G, NM_001142333.1:c.-16+166204A>G, 6500843, NG_011881.1:g.806724A>T, NC_000016.9:g.6870855A>C, XM_005255384.1:c.-16+166204A>G, XM_005255385.3:c.-16+166204A>G, XM_005255379.2:c.114+166204A>G, rs6500843, XM_005255391.2:c.-16+166204A>G, XM_005255392.1:c.-16+166204A>G, XM_005255389.2:c.114+166204A>G, NC_000016.9:g.6870855=, XM_005255395.1:c.93+166204A>G, XM_005255390.2:c.-16+166204A>G, NC_000016.10:g.6820854A>G, XM_005255391.1:c.-16+166204A>G, NC_000016.10:g.6820854A>C +PA166201547 rs6504649 PA37974 XYLT2 NC_000017.11:50360095 1 1 0 0 0 NC_000017.11:g.50360095C>G, NC_000017.10:g.48437456=, 6504649, NG_012175.1:g.19064C>T, NP_071450.2:p.Thr801Ile, NC_000017.10:g.48437456C>G, rs6504649, 398124630, NG_012175.1:g.19064C>G, NC_000017.11:g.50360095=, NP_071450.2:p.Thr801=, NC_000017.11:g.50360095C>T, NC_000017.10:g.48437456C>T, 17703474, NG_012175.1:g.19064=, NP_071450.2:p.Thr801Arg +PA166155232 rs6505162 PA165432121,PA164722710,PA142672171 MIR3184,MIR423,NSRP1 NC_000017.11:30117165 1 0 0 0 0 XR_934651.1:n.682+227T>G, NR_029945.1:n.87A>C, NC_000017.10:g.28444183A>T, NC_000017.11:g.30117165A>C, rs56453081, NC_000017.10:g.28444183=, NM_001261467.1:c.-49+302A>C, rs61093106, NC_000017.11:g.30117165=, XM_005258042.1:c.20+302A>C, NC_000017.10:g.28444183A>C, 56453081, NC_000017.11:g.30117165A>T, rs6505162, NR_036149.1:n.-5T>G, 6505162, NC_000017.10:g.28444183A>G, NC_000017.11:g.30117165A>G, XM_011525345.1:c.21-137A>C, NM_032141.3:c.20+302A>C, 61093106 +PA166155301 rs6506569 PA34020 PTPRM NC_000018.10:8275859 2 1 0 0 0 XM_011525722.1:c.2116-20509T>C, XM_011525708.1:c.2830-20509T>C, XM_006722335.2:c.2791-20509T>C, XM_011525717.1:c.1693-20509T>C, 59608859, NC_000018.9:g.8275857T>C, XM_011525715.1:c.2191-20509T>C, XM_011525714.1:c.2626-20509T>C, XM_006722337.2:c.2716-20509T>C, XM_011525712.1:c.2755-20509T>C, XR_430046.2:n.3101-20509T>C, NC_000018.9:g.8275857=, NC_000018.10:g.8275859=, XM_005258128.1:c.2077-20509T>C, XM_011525711.1:c.2818-20509T>C, NM_001105244.1:c.2755-20509T>C, NM_002845.3:c.2716-20509T>C, XM_011525713.1:c.2644-20509T>C, 6506569, rs6506569, XM_011525716.1:c.2077-20509T>C, NC_000018.10:g.8275859T>C, rs59608859, XM_011525709.1:c.2818-20509T>C, XM_011525710.1:c.2830-20509T>C +PA166184671 rs650825 PA31945 OPRM1 NC_000006.12:154107402 1 0 0 0 0 57380077, rs650825, 1067692, NC_000006.12:g.154107402G>A, NC_000006.11:g.154428537=, NG_021208.2:g.101902G>A, 386603213, NC_000006.12:g.154107402=, NG_021208.2:g.101902=, 650825, NC_000006.11:g.154428537G>A +PA166155426 rs6511720 PA227 LDLR NC_000019.10:11091630 1 0 0 0 0 XM_011528010.1:c.67+2015G>T, NG_009060.1:g.7250G>T, NG_009060.1:g.7250=, NC_000019.10:g.11091630G>T, XR_244074.2:n.217+2015G>T, rs17811891, XM_005259909.1:c.67+2015G>T, XR_244074.1:n.217+2015G>T, rs59327054, NM_001195799.1:c.67+2015G>T, rs17242360, XM_011528011.1:c.67+2015G>T, NM_001195803.1:c.67+2015G>T, 17242360, 17811891, NC_000019.10:g.11091630=, NM_001195798.1:c.67+2015G>T, NC_000019.9:g.11202306=, NC_000019.9:g.11202306G>T, 59327054, NM_001195800.1:c.67+2015G>T, 6511720, rs6511720, NM_000527.4:c.67+2015G>T +PA166157259 rs651430 PA427 CYP3A43 NC_000007.14:99832220 1 0 0 0 0 NG_007935.1:g.9208A>G, XM_011516493.1:c.71+4034A>G, NC_000007.13:g.99429843A>T, NC_000007.13:g.99429843=, NC_000007.14:g.99832220=, NR_103868.1:n.174+4034A>G, NM_001278921.1:c.71+4034A>G, NG_007935.1:g.9208=, NM_057095.2:c.71+4034A>G, rs10383541, rs59625562, NC_000007.14:g.99832220A>G, NR_103869.1:n.174+4034A>G, NC_000007.13:g.99429843A>G, NM_022820.4:c.71+4034A>G, NG_007935.1:g.9208A>T, 651430, rs651430, 10383541, 59625562, NC_000007.14:g.99832220A>T, NM_057096.3:c.71+4034A>G +PA166161153 rs651630 PA37991 SLC12A8 NC_000003.12:125092470 1 1 0 0 0 NC_000003.12:g.125092470G>A, NC_000003.11:g.124811314=, NG_027706.1:g.125296C>T, 17239188, 57888360, 651630, rs651630, NC_000003.11:g.124811314G>A, 1708350, NC_000003.12:g.125092470=, NG_027706.1:g.125296= +PA166182219 rs6517442 PA30049 KCNJ6 NC_000021.9:37917643 4 2 0 0 0 6517442, rs6517442, NC_000021.9:g.37917643C>G, NC_000021.8:g.39289946C>G, NG_029892.2:g.3751G>A, NC_000021.8:g.39289946C>T, NG_029892.2:g.3751G>C, NC_000021.9:g.37917643=, 59940856, NC_000021.9:g.37917643C>T, 17229923, NG_029892.2:g.3751=, NC_000021.8:g.39289946= +PA166266302 rs651821 PA24888 APOA5 NC_000011.10:116791863 1 0 0 0 0 NG_015894.1:g.5558A>T, NC_000011.10:g.116791863=, 651821, NG_015894.2:g.5558G>T, NG_051344.1:g.918=, NG_051344.1:g.918C>A, NC_000011.10:g.116791863C>A, NC_000011.9:g.116662579C>A, NG_015894.2:g.5558G>A, NC_000011.9:g.116662579C>T, 60962092, NG_015894.2:g.5558=, NC_000011.9:g.116662579=, NC_000011.10:g.116791863C>T, NG_015894.1:g.5558A>G, NG_051344.1:g.918C>T, rs651821 +PA166303442 rs6519270 PA31621 SNU13 NC_000022.11:41682662 1 0 0 0 0 NC_000022.10:g.42078666=, NC_000022.10:g.42078666A>G, NG_051551.1:g.12831T>C, NC_000022.11:g.41682662=, NG_051551.1:g.12831=, 6519270, rs6519270, NC_000022.11:g.41682662A>G +PA166170338 rs652888 PA25267 EHMT2 NC_000006.12:31883457 1 1 0 0 0 57202658, 115089010, NC_000006.11:g.31851234A>G, NG_023058.1:g.590=, 652888, 148049729, NC_000006.12:g.31883457A>G, 117532433, NC_000006.12:g.31883457=, NC_000006.11:g.31851234=, rs652888, NG_023058.1:g.590T>C, 6925348 +PA166156600 rs6533485 PA27664 EGF NC_000004.12:110006407 1 0 0 0 0 XM_005262796.1:c.3292-1745G>C, NC_000004.11:g.110927563G>C, XM_005262800.2:c.3048+1785G>C, NG_011441.1:g.98524=, XM_006714124.2:c.3291+1785G>C, NG_011441.1:g.98524G>C, NM_001178131.2:c.3166-1745G>C, XM_005262797.2:c.3166-1745G>C, XM_005262798.2:c.3049-1745G>C, NM_001963.5:c.3292-1745G>C, XM_011531707.1:c.3181-1745G>C, NG_011441.2:g.98524G>C, rs6533485, 6533485, XR_427532.2:n.3305+1785G>C, XM_005262800.1:c.3048+1785G>C, XM_005262798.1:c.3049-1745G>C, XM_005262797.1:c.3166-1745G>C, NG_011441.2:g.98524=, XM_005262801.2:c.2492-4795G>C, XR_938699.1:n.3306-1745G>C, NM_001178130.2:c.3169-1745G>C, NC_000004.12:g.110006407G>C, XM_005262796.2:c.3292-1745G>C, NC_000004.12:g.110006407=, NC_000004.11:g.110927563=, XM_005262801.1:c.2492-4795G>C +PA166156601 rs6535454 PA142672084 COQ2 NC_000004.12:83269878 1 1 0 0 0 XM_011531857.1:c.894T>C, rs58091204, 17850400, XP_011530161.1:p.Asp298=, XM_011531867.1:c.540T>C, XP_011530160.1:p.Asp298=, XM_011531861.1:c.894T>C, 17589288, XM_005262927.1:c.414T>C, XM_005262926.1:c.540T>C, rs17851821, NC_000004.12:g.83269878=, XM_011531859.1:c.894T>C, NG_015825.1:g.20037T>C, XP_011530168.1:p.Asp298=, XP_011530157.1:p.Asp298=, XP_011530167.1:p.Asp298=, XM_011531858.1:c.894T>C, XP_011530164.1:p.Asp298=, XP_011530166.1:p.Asp298=, XP_005262984.1:p.Asp138=, XP_011530165.1:p.Asp298=, NC_000004.12:g.83269878A>G, 6535454, XP_011530162.1:p.Asp298=, XP_011530169.1:p.Asp180=, XP_011530163.1:p.Asp298=, NM_015697.7:c.894T>C, rs17589288, NC_000004.11:g.84191031A>G, XM_011531860.1:c.894T>C, XR_938721.1:n.1064T>C, 58091204, NP_056512.5:p.Asp298=, XP_011530158.1:p.Asp298=, XM_011531866.1:c.894T>C, XP_011530159.1:p.Asp298=, NC_000004.11:g.84191031=, XM_011531856.1:c.894T>C, XM_011531862.1:c.894T>C, XM_011531865.1:c.894T>C, XM_011531855.1:c.894T>C, 17851821, NG_015825.1:g.20037=, XR_427543.2:n.1053T>C, XM_011531863.1:c.894T>C, rs6535454, XM_011531864.1:c.894T>C, rs17850400, XP_005262983.1:p.Asp180= +PA166154595 rs6539870 NC_000012.12:84849902 2 1 0 0 0 rs6539870, NC_000012.11:g.85243681=, NC_000012.12:g.84849902=, NC_000012.11:g.85243681A>T, NC_000012.12:g.84849902A>C, 6539870, NC_000012.11:g.85243681A>C, NC_000012.12:g.84849902A>G, NC_000012.12:g.84849902A>T, NC_000012.11:g.85243681A>G +PA166155745 rs6542746 PA37838 SLC5A7 NC_000002.12:107989380 1 0 0 0 0 NM_001305005.2:c.178+1047C>T, NG_042267.1:g.7867=, rs58317921, NG_042267.1:g.7867C>T, XM_005264008.1:c.178+1047C>T, NM_021815.4:c.178+1047C>T, NC_000002.12:g.107989380C>T, NC_000002.11:g.108605836C>G, NC_000002.12:g.107989380=, 60571256, NC_000002.11:g.108605836C>T, 6542746, NM_001305006.2:c.-138+2617C>T, NC_000002.12:g.107989380C>G, NC_000002.11:g.108605836=, 58317921, rs6542746, XM_005264009.1:c.-138+2617C>T, NG_042267.1:g.7867C>G, rs60571256, XM_011511579.1:c.178+1047C>T, NM_001305007.2:c.-527+1047C>T +PA166155746 rs6545803 NC_000002.12:60307064 1 1 0 0 0 NC_000002.12:g.60307064G>T, NC_000002.12:g.60307064G>C, NC_000002.11:g.60534199G>A, 60116865, NC_000002.12:g.60307064=, NC_000002.11:g.60534199G>T, rs60116865, NC_000002.11:g.60534199G>C, 6545803, rs6545803, NC_000002.12:g.60307064G>A, NC_000002.11:g.60534199= +PA166165143 rs6545816 PA25300 BCL11A NC_000002.12:60487726 1 0 0 0 0 NC_000002.12:g.60487726A>G, NG_011968.1:g.70773=, NC_000002.11:g.60714861A>T, 6545816, rs6545816, NC_000002.12:g.60487726A>C, NG_011968.1:g.70773T>G, 17535081, 60044241, NG_011968.1:g.70773T>C, 52805424, NC_000002.12:g.60487726=, NC_000002.11:g.60714861A>G, NC_000002.11:g.60714861=, NG_011968.1:g.70773T>A, NC_000002.11:g.60714861A>C, NC_000002.12:g.60487726A>T +PA166179890 rs6546952 PA36302 TACR1 NC_000002.12:75074636 1 0 0 0 0 NC_000002.11:g.75301763C>A, 6546952, NC_000002.12:g.75074636C>T, NG_029522.1:g.129883G>T, NC_000002.11:g.75301763C>G, rs6546952, NG_029522.1:g.129883=, NC_000002.12:g.75074636C>A, NC_000002.11:g.75301763=, NC_000002.12:g.75074636=, NC_000002.11:g.75301763C>T, NC_000002.12:g.75074636C>G, 58416441, NG_029522.1:g.129883G>A, NG_029522.1:g.129883G>C +PA166165303 rs6550826 NC_000003.12:23993497 1 0 0 0 0 6550826, NC_000003.12:g.23993497G>A, rs6550826, NC_000003.12:g.23993497G>C, NC_000003.12:g.23993497=, NC_000003.11:g.24034988G>C, NC_000003.11:g.24034988G>A, NC_000003.11:g.24034988= +PA166159088 rs655130 PA33566 PPFIA1 NC_000011.10:70333742 1 0 0 0 0 rs655130, NC_000011.10:g.70333742T>C, NC_000011.9:g.70179848T>C, NC_000011.9:g.70179848T>A, NC_000011.10:g.70333742T>G, NC_000011.9:g.70179848T>G, 655130, 60407767, NC_000011.9:g.70179848=, 56473350, 57178862, NC_000011.10:g.70333742T>A, NC_000011.10:g.70333742= +PA166156602 rs6551665 PA134968284 ADGRL3 NC_000004.12:61873823 7 1 0 0 0 NG_033950.1:g.381703G>A, NC_000004.12:g.61873823=, 58013318, NM_015236.4:c.1277-18833G>A, XM_011531784.1:c.1466-18833G>A, XM_011531787.1:c.1481-18833G>A, rs58013318, NC_000004.12:g.61873823G>A, XM_005265661.1:c.1277-18833G>A, XM_005265660.1:c.1481-18833G>A, XM_011531788.1:c.1481-18833G>A, XM_011531792.1:c.1277-18833G>A, NC_000004.11:g.62739541G>A, XM_011531791.1:c.1481-18833G>A, 6551665, rs6551665, NC_000004.11:g.62739541=, XM_011531790.1:c.1481-18833G>A, NG_033950.2:g.677568=, XM_011531789.1:c.1481-18833G>A, XM_011531793.1:c.1481-18833G>A, NG_033950.2:g.677568G>A, XM_011531785.1:c.1481-18848G>A, XM_011531786.1:c.1481-18833G>A +PA166154289 rs655717 PA142671972,PA37165 DNAJB13,UCP2 NC_000011.10:73973170 1 0 0 0 0 NG_011478.1:g.14675T>G, NG_011478.1:g.14675T>A, NG_011478.1:g.14675=, NG_011478.1:g.14675T>C, rs386603512, 17244706, NC_000011.10:g.73973170A>C, NC_000011.9:g.73684215A>T, 58444401, NC_000011.10:g.73973170A>G, 655717, NC_000011.9:g.73684215A>G, rs655717, NC_000011.9:g.73684215A>C, rs17244706, 386603512, NC_000011.9:g.73684215=, NC_000011.10:g.73973170A>T, rs58444401, NC_000011.10:g.73973170= +PA166184604 rs6557337 PA31945 OPRM1 NC_000006.12:154141919 1 0 0 0 0 NC_000006.11:g.154463054=, NC_000006.11:g.154463054C>A, NC_000006.12:g.154141919=, NC_000006.12:g.154141919C>T, NG_021208.2:g.136419C>A, NG_021208.2:g.136419=, 58852367, NC_000006.12:g.154141919C>A, rs6557337, 6557337, 74296667, NC_000006.11:g.154463054C>T, NG_021208.2:g.136419C>T +PA166155302 rs6567270 PA36601 TNFRSF11A NC_000018.10:62359772 1 0 0 0 0 rs61387383, NM_001270949.1:c.522-183T>A, NM_003839.3:c.522-183T>A, NM_001270951.1:c.522-183T>A, NG_008098.1:g.39458=, XM_005266777.1:c.522-183T>A, XM_011526245.1:c.414-183T>A, NC_000018.10:g.62359772=, 61387383, NM_001278268.1:c.480-183T>A, NC_000018.9:g.60027005T>A, XM_011526244.1:c.537-183T>A, NC_000018.9:g.60027005=, NM_003839.2:c.522-183T>A, XR_935263.1:n.552-183T>A, NG_008098.1:g.39458T>A, NM_001270950.1:c.522-183T>A, NC_000018.10:g.62359772T>A, rs6567270, 6567270 +PA166155303 rs6567276 PA36601 TNFRSF11A NC_000018.10:62377435 1 0 0 0 0 NG_008098.1:g.57121=, rs6567276, NC_000018.10:g.62377435=, 6567276, XM_011526245.1:c.1460-7316T>C, NC_000018.10:g.62377435T>C, 202107806, XM_011526244.1:c.1583-7316T>C, NC_000018.10:g.62377435T>A, NM_001270951.1:c.617-7316T>C, 76406755, NM_001278268.1:c.1526-7316T>C, XR_935263.1:n.1598-1822T>C, XM_005266777.1:c.1568-1822T>C, rs76406755, rs202107806, NG_008098.1:g.57121T>C, NM_001270949.1:c.784-7316T>C, NG_008098.1:g.57121T>A, NM_003839.3:c.1568-7316T>C, NM_001270950.1:c.731-7316T>C, NM_003839.2:c.1568-7316T>C, NC_000018.9:g.60044668=, NC_000018.9:g.60044668T>A, NC_000018.9:g.60044668T>C +PA166165167 rs6569487 NC_000006.12:127405051 1 0 0 0 0 56595934, NC_000006.12:g.127405051=, 6569487, NC_000006.11:g.127726196A>G, rs6569487, NC_000006.11:g.127726196=, 9285461, NC_000006.12:g.127405051A>G +PA166176360 rs657075 NC_000005.10:132094425 1 0 0 0 0 NC_000005.10:g.132094425=, 59328567, NC_000005.10:g.132094425G>A, 3991721, rs657075, NC_000005.9:g.131430118=, NC_000005.9:g.131430118G>A, 657075, 56519087 +PA166180111 rs658156 PA31945 OPRM1 NC_000006.12:154120391 1 0 0 0 0 NC_000006.12:g.154120391A>C, NC_000006.11:g.154441526=, rs658156, 58322041, NC_000006.11:g.154441526A>T, NG_021208.2:g.114891A>C, NC_000006.12:g.154120391A>T, NC_000006.12:g.154120391=, NG_021208.2:g.114891A>G, 658156, NG_021208.2:g.114891=, NC_000006.11:g.154441526A>C, 17174977, NC_000006.12:g.154120391A>G, NC_000006.11:g.154441526A>G, NG_021208.2:g.114891A>T +PA166232229 rs6583954 PA124 CYP2C19 NC_000010.11:94774506 1 0 0 0 0 6583954, NG_032466.1:g.223G>A, rs6583954, NG_008384.3:g.16826=, NG_032466.1:g.223=, NC_000010.10:g.96534263=, NG_008384.3:g.16826C>T, NC_000010.11:g.94774506C>T, NC_000010.10:g.96534263C>T, 17882419, NC_000010.11:g.94774506= +PA166154290 rs658903 PA213 KCNJ1 NC_000011.10:128858172 1 1 0 0 0 NC_000011.10:g.128858172T>A, NC_000011.9:g.128728067T>G, NM_153764.2:c.-22+9001A>T, NC_000011.10:g.128858172=, NC_000011.9:g.128728067T>A, NM_153767.3:c.-191-7282A>T, 658903, NM_153765.2:c.30+8351A>T, NG_009379.1:g.14202A>T, NM_153766.2:c.-191-7282A>T, NC_000011.9:g.128728067=, rs658903, NG_009379.1:g.14202=, NC_000011.10:g.128858172T>G, NG_009379.1:g.14202A>C +PA166210044 rs6589386 NC_000011.10:113573031 1 1 0 0 0 6589386, rs6589386, NC_000011.9:g.113443753C>T, 61389160, NC_000011.10:g.113573031=, NC_000011.10:g.113573031C>T, 562971203, NC_000011.9:g.113443753=, 17286555 +PA166160156 rs6591838 PA36196 STIP1 NC_000011.10:64191884 1 0 0 0 0 17462930, NC_000011.9:g.63959356=, NC_000011.9:g.63959356A>G, rs6591838, NC_000011.10:g.64191884A>G, NC_000011.10:g.64191884=, 6591838 +PA166154417 rs6591876 NC_000011.10:80177902 1 0 0 0 0 NC_000011.10:g.80177902=, rs6591876, NC_000011.9:g.79888946=, NC_000011.10:g.80177902T>G, NC_000011.9:g.79888946T>G, 6591876, NC_000011.10:g.80177902T>C, NC_000011.9:g.79888946T>C +PA166154291 rs659366 PA37165 UCP2 NC_000011.10:73983709 2 0 0 0 0 17174147, 59575906, NG_011478.1:g.4136=, NC_000011.10:g.73983709C>T, NC_000011.9:g.73694754C>T, rs3829934, 3829934, rs659366, rs52801495, NC_000011.9:g.73694754=, rs17174147, 659366, 52801495, NM_003355.2:c.-1245G>A, rs59575906, NG_011478.1:g.4136G>A, NC_000011.10:g.73983709= +PA166154682 rs659734 PA193 HTR2A NC_000013.11:46861148 1 0 0 0 0 NM_001165947.2:c.362-25509C>T, NC_000013.10:g.47435283G>T, rs659734, NC_000013.11:g.46861148G>A, rs17359936, NM_000621.4:c.614-25509C>T, rs59168055, 386603779, NC_000013.11:g.46861148G>C, NC_000013.11:g.46861148=, NG_013011.1:g.40887C>T, NG_013011.1:g.40887=, NC_000013.10:g.47435283G>C, NC_000013.10:g.47435283G>A, NG_013011.1:g.40887C>A, 59168055, 659734, NC_000013.10:g.47435283=, 17359936, rs386603779, NG_013011.1:g.40887C>G, NC_000013.11:g.46861148G>T +PA166156603 rs6600879 PA361 UGT2B7 NC_000004.12:69094669 1 1 0 0 0 XM_011532229.1:c.-1852C>G, NM_001074.2:c.-1852C>G, rs17381748, NC_000004.12:g.69094669=, NC_000004.11:g.69960387C>T, rs6600879, XM_005265702.2:c.-26-3871C>G, 6600879, XM_005265702.1:c.-26-3871C>G, NC_000004.12:g.69094669C>T, XM_011532231.1:c.-26-3871C>G, 17381748, NC_000004.11:g.69960387C>G, NC_000004.12:g.69094669C>G, XM_011532230.1:c.-1852C>G, NC_000004.11:g.69960387= +PA166156604 rs6600880 PA361 UGT2B7 NC_000004.12:69094762 1 1 0 0 0 6600880, NC_000004.11:g.69960480=, XM_011532231.1:c.-26-3778T>A, 17381762, XM_005265702.2:c.-26-3778T>A, XM_011532230.1:c.-1759T>A, NC_000004.12:g.69094762T>A, NM_001074.2:c.-1759T>A, XM_011532229.1:c.-1759T>A, NC_000004.12:g.69094762T>C, NC_000004.11:g.69960480T>C, NC_000004.12:g.69094762=, XM_005265702.1:c.-26-3778T>A, rs17381762, rs6600880, NC_000004.11:g.69960480T>A +PA166156605 rs6600893 PA361 UGT2B7 NC_000004.12:69113183 1 1 0 0 0 rs6600893, NM_001074.2:c.*251+196T>C, 6600893, 58570437, XM_005265702.2:c.*447T>C, NM_001074.2:c.*447T>C, XM_005265702.1:c.*447T>C, NC_000004.12:g.69113183T>C, NC_000004.11:g.69978901=, rs58570437, NC_000004.12:g.69113183=, XM_011532231.1:c.*447T>C, NC_000004.11:g.69978901T>C, XM_011532230.1:c.*707T>C +PA166159071 rs6601319 NC_000008.11:9479276 1 0 0 0 0 56753487, NC_000008.10:g.9336786=, NC_000008.10:g.9336786T>C, NC_000008.11:g.9479276=, NC_000008.11:g.9479276T>G, rs6601319, 6601319, NC_000008.11:g.9479276T>C, NC_000008.10:g.9336786T>G +PA166177316 rs6601604 PA28587 GATA4 NC_000008.11:11718009 1 0 0 0 0 NC_000008.10:g.11575518=, NC_000008.10:g.11575518A>C, NG_008177.2:g.46091A>C, NC_000008.11:g.11718009A>G, 6601604, NC_000008.10:g.11575518A>G, rs6601604, NC_000008.11:g.11718009A>C, NG_008177.2:g.46091=, 52806280, 60965054, NG_008177.2:g.46091A>T, NG_008177.2:g.46091A>G, NC_000008.11:g.11718009=, NC_000008.10:g.11575518A>T, NC_000008.11:g.11718009A>T +PA166154292 rs660339 PA37165 UCP2 NC_000011.10:73978059 1 0 0 0 0 1050841, NP_003346.2:p.Ala55=, 117907410, 59652865, rs1050841, NG_011478.1:g.9786C>T, rs117907410, rs17848359, rs2228495, rs660339, NC_000011.9:g.73689104G>A, NM_003355.2:c.164C>T, 2228495, rs59652865, NC_000011.10:g.73978059G>A, 17848359, NC_000011.9:g.73689104=, NP_003346.2:p.Ala55Val, 660339, NC_000011.10:g.73978059=, NG_011478.1:g.9786= +PA166153782 rs6603859 PA142672461 SZRD1 NC_000001.11:16379580 1 0 0 0 0 NC_000001.11:g.16379580=, rs56948045, rs6603859, 6603859, NC_000001.11:g.16379580G>T, XM_005245839.1:c.52-11795G>T, NR_073503.1:n.279+12272G>T, NM_001271869.1:c.52-11795G>T, NC_000001.10:g.16706075=, NM_001114600.2:c.52-11795G>T, XM_005245840.1:c.44+12272G>T, NR_073500.1:n.279+12272G>T, NR_073501.1:n.280-7475G>T, NR_073502.1:n.279+12272G>T, 56948045, NC_000001.10:g.16706075G>T +PA166154844 rs660652 PA113,PA26491 CHRNA3,CHRNA5 NC_000015.10:78595490 3 1 0 0 0 XM_011521173.1:c.*1114T>C, 3087991, NM_001307945.1:c.*2374A>G, rs3087991, NC_000015.9:g.78887832=, rs660652, 386603867, NC_000015.9:g.78887832A>C, 660652, NR_046313.1:n.2083+1050T>C, rs386603867, XM_006720382.1:c.*1114T>C, NG_016143.1:g.30806=, NG_023328.1:g.34971A>C, NC_000015.10:g.78595490A>T, NM_000745.3:c.*2237A>G, 17486838, NC_000015.10:g.78595490=, NG_023328.1:g.34971A>G, NM_001166694.1:c.1390-2299T>C, NG_016143.1:g.30806T>A, NC_000015.10:g.78595490A>G, 1504543, NG_023328.1:g.34971A>T, rs1504543, NC_000015.9:g.78887832A>G, NC_000015.10:g.78595490A>C, NG_016143.1:g.30806T>C, NM_000743.4:c.*1114T>C, NC_000015.9:g.78887832A>T, NG_023328.1:g.34971=, NG_016143.1:g.30806T>G, rs17486838 +PA166318881 rs661899 PA30784 MGAT5 NC_000002.12:134445591 2 0 0 0 0 rs661899, NC_000002.12:g.134445591=, NC_000002.11:g.135203162=, 60203171, NG_030324.1:g.196333=, NC_000002.12:g.134445591T>C, NC_000002.11:g.135203162T>C, NC_000002.12:g.134445591T>G, 661899, NC_000002.11:g.135203162T>G, NG_030324.1:g.196333T>G, 386603930, NG_030324.1:g.196333T>C +PA166157238 rs662 PA33529 PON1 NC_000007.14:95308134 60 3 0 0 0 rs11567868, rs386603940, 11567868, 17773773, NG_008779.1:g.21439A>G, 386603940, NC_000007.13:g.94937446T>C, 13306697, NC_000007.14:g.95308134T>A, NC_000007.13:g.94937446T>A, NG_008779.2:g.21573A>G, NP_000437.3:p.Gln192=, NC_000007.13:g.94937446T>G, NG_008779.2:g.21573=, NC_000007.14:g.95308134T>C, rs60480675, NG_008779.2:g.21573A>C, NP_000437.3:p.Gln192Pro, rs662, NC_000007.14:g.95308134T>G, NC_000007.13:g.94937446=, NP_000437.3:p.Gln192Arg, rs13306697, 60480675, NC_000007.14:g.95308134=, NM_000446.5:c.575A>G, 662, NG_008779.2:g.21573A>T, NP_000437.3:p.Gln192Leu, rs17773773 +PA166196168 rs6627221 PA28491 GABRA3 NC_000023.11:152247402 1 0 0 0 0 NC_000023.11:g.152247402=, NG_007102.2:g.208957=, NC_000023.10:g.151415874T>C, rs6627221, 6627221, 111184087, NC_000023.11:g.152247402T>C, NC_000023.10:g.151415874=, 60114943, NG_007102.2:g.208957A>G +PA166154293 rs662799 PA24888 APOA5 NC_000011.10:116792991 8 1 0 0 0 NC_000011.10:g.116792991G>C, NG_015894.2:g.4430C>T, NC_000011.10:g.116792991G>A, NG_015894.1:g.4430C>T, 3809039, NC_000011.9:g.116663707=, rs60708336, NC_000011.10:g.116792991=, NM_052968.4:c.-644C>T, NG_015894.2:g.4430=, rs3809039, rs662799, NC_000011.9:g.116663707G>C, 60708336, NG_015894.2:g.4430C>G, NC_000011.9:g.116663707G>A, 662799, NG_015894.1:g.4430C>G, NM_001166598.1:c.-620C>T, NG_015894.1:g.4430= +PA166154683 rs664393 PA28180 FLT1 NC_000013.11:28496864 2 0 0 0 0 NM_001160030.1:c.-2021A>G, NC_000013.10:g.29071001T>C, NC_000013.11:g.28496864T>A, NC_000013.11:g.28496864T>C, NM_001160031.1:c.-2021A>G, NC_000013.10:g.29071001T>A, 59180014, NG_012003.1:g.3265A>G, NM_002019.4:c.-2021A>G, 664393, NG_012003.1:g.3265=, XM_011535014.1:c.-2021A>G, rs664393, NM_001159920.1:c.-2021A>G, rs59180014, NC_000013.11:g.28496864=, NC_000013.10:g.29071001=, NG_012003.1:g.3265A>T +PA166171041 rs66486766 NC_000015.10:84137308 1 1 0 0 0 NC_000015.9:g.84806060=, NC_000015.9:g.84806060G>A, NC_000015.10:g.84137308G>A, rs66486766, NC_000015.10:g.84137308=, 66486766 +PA166154189 rs66501115 PA125 CYP2C8 NC_000010.11:95038978 1 0 0 0 0 XR_246073.1:n.1345C>G, NG_007972.1:g.35520C>G, 66501115, NM_000770.3:c.1210C>G, NG_007972.1:g.35520=, NM_001198853.1:c.1000C>G, NP_001185782.1:p.Pro334Ala, NC_000010.10:g.96798735G>C, NP_000761.3:p.Pro404Ala, NC_000010.11:g.95038978=, rs66501115, XR_945610.1:n.1345C>G, NC_000010.10:g.96798735=, NM_001198855.1:c.1000C>G, NP_000761.3:p.Pro404=, NP_001185783.1:p.Pro302Ala, NM_001198854.1:c.904C>G, NC_000010.11:g.95038978G>C, NP_001185784.1:p.Pro334Ala +PA166154756 rs66520040 PA28181 FLT3 NC_000013.11:28032094 1 0 0 0 0 XM_011535018.1:c.1417+1793C>T, NR_130706.1:n.2024+1793C>T, NC_000013.10:g.28606231=, XM_011535017.1:c.1417+1793C>T, NG_007066.1:g.73475C>G, 66520040, rs66520040, XM_005266319.1:c.1942+1793C>T, NC_000013.11:g.28032094=, NC_000013.10:g.28606231G>C, NC_000013.11:g.28032094G>C, NC_000013.10:g.28606231G>A, XM_011535015.1:c.1885+1793C>T, NC_000013.11:g.28032094G>A, XM_011535016.1:c.1417+1793C>T, NG_007066.1:g.73475=, NG_007066.1:g.73475C>T, XM_005266318.1:c.1942+1793C>T, NM_004119.2:c.1942+1793C>T +PA166175821 rs6661932 NC_000001.11:152924258 1 0 0 0 0 60449867, NC_000001.11:g.152924258T>C, NC_000001.10:g.152896734T>C, rs6661932, NC_000001.11:g.152924258=, 6661932, NC_000001.11:g.152924258T>A, NC_000001.10:g.152896734T>A, NC_000001.10:g.152896734= +PA166159551 rs6668296 PA145 DPYD NC_000001.11:97699212 1 0 0 0 0 NC_000001.11:g.97699212=, NC_000001.10:g.98164768C>T, NG_008807.2:g.226848=, NG_008807.2:g.226848G>A, 6668296, rs6668296, NC_000001.10:g.98164768=, NC_000001.11:g.97699212C>T +PA166185231 rs6669447 PA31942 OPRD1 NC_000001.11:28822849 3 0 0 0 0 NC_000001.10:g.29149361=, NC_000001.11:g.28822849=, NC_000001.11:g.28822849T>C, rs6669447, NC_000001.10:g.29149361T>C, 57640532, 6669447 +PA166192821 rs6670886 PA145 DPYD NC_000001.11:97699506 0 0 0 1 0 NP_000101.2:p.Ser175=, NC_000001.11:g.97699506C>T, rs6670886, NC_000001.10:g.98165062=, NC_000001.10:g.98165062C>A, NG_008807.2:g.226554G>A, NG_008807.2:g.226554=, 6670886, 199469518, NC_000001.11:g.97699506=, NC_000001.11:g.97699506C>A, NC_000001.10:g.98165062C>T, NG_008807.2:g.226554G>T +PA166185482 rs667282 PA26491 CHRNA5 NC_000015.10:78571130 2 0 0 0 0 NC_000015.10:g.78571130=, NC_000015.10:g.78571130T>C, NC_000015.9:g.78863472T>C, NC_000015.9:g.78863472=, NG_023328.1:g.10611T>C, NG_023328.1:g.10611=, rs667282, 667282 +PA166160449 rs6674079 NC_000001.11:156516269 1 0 0 0 0 6674079, rs6674079, NC_000001.11:g.156516269=, NC_000001.10:g.156486061A>G, NC_000001.11:g.156516269A>G, NC_000001.10:g.156486061=, 57469884 +PA166153784 rs6679677 PA33278,PA134869532 PHTF1,RSBN1 NC_000001.11:113761186 1 0 0 0 0 6679677, rs6679677, XM_005270384.1:c.-2194G>T, 58035578, XM_005270383.1:c.-2309G>T, XM_005270383.3:c.-2309G>T, XM_005270384.3:c.-2194G>T, NC_000001.11:g.113761186=, NC_000001.10:g.114303808=, NC_000001.10:g.114303808C>A, XM_011540531.1:c.-1445G>T, rs58035578, NC_000001.11:g.113761186C>A +PA166177463 rs6683455 PA134935109 IL23R NC_000001.11:67166023 1 0 0 0 0 NG_011498.1:g.4538C>G, 59137666, NC_000001.10:g.67631706C>G, NC_000001.11:g.67166023C>T, NG_011498.1:g.4538C>T, NG_011498.1:g.4538=, NC_000001.11:g.67166023=, NC_000001.11:g.67166023C>A, NC_000001.10:g.67631706C>T, 6683455, NC_000001.11:g.67166023C>G, rs6683455, NC_000001.10:g.67631706C>A, NG_011498.1:g.4538C>A, 11465755, NC_000001.10:g.67631706= +PA166154294 rs668514 PA37166 UCP3 NC_000011.10:73995469 1 0 0 0 0 NC_000011.9:g.73706514C>T, NC_000011.10:g.73995469C>T, rs59750531, rs668514, NG_024386.1:g.813G>A, NC_000011.9:g.73706514C>A, 668514, 59750531, NC_000011.10:g.73995469=, NG_024386.1:g.813G>T, NC_000011.9:g.73706514=, NG_024386.1:g.813=, XR_950298.1:n.1203C>T, NC_000011.10:g.73995469C>A +PA166285101 rs6686529 PA30059 KCNK2 NC_000001.11:215236763 1 1 0 0 0 NC_000001.10:g.215410106G>T, NC_000001.10:g.215410106G>C, NC_000001.11:g.215236763G>T, NC_000001.11:g.215236763G>C, rs6686529, 6686529, NC_000001.11:g.215236763=, NC_000001.10:g.215410106= +PA166156693 rs66878317 PA137 DCK NC_000004.12:70993905 1 1 0 0 0 66878317, 66878318, 66878319, NC_000004.11:g.71859622A>T, NP_000779.1:p.Ile24Phe, NG_023303.1:g.5358A>G, NC_000004.12:g.70993905A>T, NC_000004.11:g.71859622=, rs66878318, rs66878319, NG_023303.1:g.5358=, rs66878317, NC_000004.11:g.71859622A>G, NC_000004.12:g.70993905=, NP_000779.1:p.Ile24=, NC_000004.12:g.70993905A>G, NM_000788.2:c.70A>G, NP_000779.1:p.Ile24Val, NG_023303.1:g.5358A>T +PA166184305 rs6688363 NC_000001.11:160108064 1 1 0 0 0 NC_000001.10:g.160077854=, NC_000001.10:g.160077854C>A, 6688363, NC_000001.10:g.160077854C>T, rs6688363, NC_000001.11:g.160108064C>A, NC_000001.11:g.160108064C>T, NC_000001.11:g.160108064= +PA166154481 rs669 PA24357,PA30170 A2M,KLRG1 NC_000012.12:9079672 2 1 0 0 0 NP_000005.3:p.Ile1000Val, NP_000005.2:p.Ile1000Val, XP_006719119.1:p.Ile1000Val, rs2228223, 2228223, NC_000012.11:g.9232268=, rs17853961, 52792261, XM_006719056.2:c.2998A>G, NC_000012.11:g.9232268T>C, 116906878, 10432, rs1049149, NP_000005.3:p.Ile1000=, rs669, 1049149, rs52792261, 17853961, NM_000014.4:c.2998A>G, 10743597, 57589145, NG_011717.1:g.41291A>G, rs17354152, NC_000012.12:g.9079672=, NC_000012.12:g.9079672T>C, rs116906878, rs57589145, 17354152, 3168556, 669, NG_011717.1:g.41291=, rs3168556, rs10743597, rs10432 +PA166163233 rs6690069 PA98 CDA NC_000001.11:20587958 1 0 0 0 0 NC_000001.11:g.20587958=, 6690069, NC_000001.11:g.20587958G>A, 60425365, rs6690069, NC_000001.10:g.20914451=, NC_000001.10:g.20914451G>A +PA166248081 rs6690497 PA24674 AKR1A1 NC_000001.11:45566649 2 0 0 0 0 NC_000001.11:g.45566649=, rs6690497, 6690497, NP_006057.1:p.Glu55Asp, NC_000001.10:g.46032321=, NC_000001.10:g.46032321G>C, NP_006057.1:p.Glu55=, NC_000001.11:g.45566649G>C +PA166153785 rs6691117 PA26855 CR1 NC_000001.11:207609586 1 0 0 0 0 XP_005273121.1:p.Ile1937Val, NG_007481.1:g.118459=, NM_000651.4:c.6193A>G, XP_011507507.1:p.Ile2070Val, XP_006711229.1:p.Ile2070Val, NP_000642.3:p.Ile2065=, NC_000001.11:g.207609586A>G, NP_000564.2:p.Ile1615Val, XM_006711166.2:c.6208A>G, rs59510794, rs6691117, 6691117, NC_000001.10:g.207782931=, NC_000001.11:g.207609586=, XM_005273064.1:c.5809A>G, XM_011509205.1:c.6208A>G, 59510794, NM_000573.3:c.4843A>G, NC_000001.10:g.207782931A>G, NG_007481.1:g.118459A>G, NP_000642.3:p.Ile2065Val +PA166196164 rs6691840 PA28975 GRIK3 NC_000001.11:36859876 1 0 0 0 0 NC_000001.10:g.37325477A>C, NC_000001.11:g.36859876=, NP_000822.2:p.Ser310=, rs6691840, NG_011447.1:g.179368=, NP_000822.2:p.Ser310Ala, 6691840, NC_000001.10:g.37325477A>G, NC_000001.11:g.36859876A>G, NP_000822.2:p.Ser310Pro, NG_011447.1:g.179368T>G, NC_000001.11:g.36859876A>C, NC_000001.10:g.37325477=, NG_011447.1:g.179368T>C +PA166163279 rs6699322 NC_000001.11:46416446 1 0 0 0 0 NC_000001.11:g.46416446=, NC_000001.11:g.46416446A>G, rs6699322, NC_000001.11:g.46416446A>T, 6699322, NC_000001.10:g.46882118=, NC_000001.10:g.46882118A>G, NC_000001.10:g.46882118A>T, 61130001 +PA166154247 rs670 PA49 APOA1 NC_000011.10:116837697 2 0 0 0 0 rs17243116, NC_000011.10:g.116837697C>A, NM_001318021.1:c.-396G>A, NC_000011.9:g.116708413=, NC_000011.9:g.116708413C>T, NG_012021.1:g.4926G>T, NR_126362.1:n.123+1458C>T, XM_005271539.1:c.-159G>A, 61758319, NM_001318018.1:c.-159G>A, NM_001318017.1:c.-190G>A, XM_005271539.2:c.-159G>A, 670, NG_012021.1:g.4926G>A, rs670, NC_000011.9:g.116708413C>A, NC_000011.10:g.116837697=, NC_000011.10:g.116837697C>T, XM_005271540.1:c.-190G>A, 17243116, NM_000039.2:c.-113G>A, NG_012021.1:g.4926=, rs61758319 +PA166177102 rs6700741 NC_000001.11:178597251 1 1 0 0 0 NC_000001.11:g.178597251=, rs6700741, 6700741, NC_000001.11:g.178597251C>T, NC_000001.10:g.178566386C>T, NC_000001.10:g.178566386= +PA166153786 rs6702335 PA27810 EPB41 NC_000001.11:29084738 1 1 0 0 0 NC_000001.11:g.29084738=, XM_011540956.1:c.2236-11417A>G, XM_005245756.1:c.2086-11417A>G, XM_005245761.1:c.2185-13069A>G, XM_005245771.1:c.1558-11417A>G, XM_005245762.1:c.2185-11417A>G, XM_005245754.1:c.2182-11417A>G, NM_004437.3:c.1459-13069A>G, XM_005245755.1:c.2143-11417A>G, XM_011540958.1:c.2236-11417A>G, 6702335, XM_011540961.1:c.2131-11417A>G, rs6702335, NC_000001.10:g.29411250=, XM_005245763.1:c.2143-13069A>G, XM_011540960.1:c.2137-11417A>G, XM_005245759.1:c.2023-11417A>G, XM_005245764.1:c.2086-13069A>G, XM_006710439.1:c.2221-13069A>G, NM_203342.2:c.1516-13069A>G, NM_001166007.1:c.1396-13069A>G, XM_006710434.1:c.2221-11417A>G, XM_005245769.1:c.2023-13069A>G, NM_001166005.1:c.2185-13069A>G, XM_005245770.1:c.2020-13069A>G, NM_203343.2:c.1918-13069A>G, XM_005245774.1:c.2022+19580A>G, XM_005245757.1:c.2080-11417A>G, XM_005245758.1:c.2077-11417A>G, XM_011540959.1:c.2194-11417A>G, XM_011540962.1:c.2074-11417A>G, NG_013344.1:g.202648=, XM_011540957.1:c.2233-11417A>G, NG_013344.1:g.202648A>G, XM_005245765.1:c.2080-13069A>G, XM_005245753.1:c.2185-11417A>G, NC_000001.10:g.29411250A>G, XM_005245760.1:c.2236-13069A>G, XM_011540964.1:c.1609-11417A>G, NC_000001.11:g.29084738A>G, XM_005245768.1:c.2184+19580A>G +PA166155747 rs6706232 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233729207 1 1 0 0 0 rs6706232, 6706232, NC_000002.12:g.233729207G>A, XR_241238.1:n.923+9520G>A, NM_205862.1:c.60+35342G>A, NM_019078.1:c.867+15349G>A, rs56945461, NC_000002.12:g.233729207G>C, NP_061966.1:p.Glu27Asp, NP_061966.1:p.Glu27=, NM_001072.3:c.861+35342G>A, NC_000002.11:g.234637853=, NG_002601.2:g.144464=, NM_019075.2:c.856-37827G>A, NC_000002.11:g.234637853G>C, NM_019093.2:c.81G>A, NM_007120.2:c.867+9520G>A, NG_002601.2:g.144464G>C, NC_000002.11:g.234637853G>A, NG_002601.2:g.144464G>A, NM_019076.4:c.856-37827G>A, NC_000002.12:g.233729207=, XR_241240.1:n.1022+35342G>A, XR_241241.1:n.942-37827G>A, NM_019077.2:c.856-37827G>A, NM_021027.2:c.856-37827G>A, 56945461 +PA166165144 rs6706648 PA25300 BCL11A NC_000002.12:60494905 1 0 0 0 0 NC_000002.11:g.60722040C>G, NG_011968.1:g.63594=, NC_000002.12:g.60494905C>G, NC_000002.12:g.60494905=, NC_000002.12:g.60494905C>T, NC_000002.11:g.60722040C>T, NG_011968.1:g.63594G>A, 59728966, NG_011968.1:g.63594G>C, rs6706648, 6706648, NC_000002.11:g.60722040= +PA166154482 rs671 PA24696 ALDH2 NC_000012.12:111803962 11 5 0 0 0 NP_001191818.1:p.Glu457Lys, 4986830, rs4986830, 60823674, NM_000690.3:c.1510G>A, NM_001204889.1:c.1369G>A, NC_000012.12:g.111803962=, NG_012250.1:g.42421=, ALDH2*2, 671, rs4134524, rs60823674, 4134524, NG_012250.1:g.42421G>A, rs671, NG_012250.2:g.42076=, NC_000012.11:g.112241766=, NP_000681.2:p.Glu504=, NC_000012.11:g.112241766G>A, NC_000012.12:g.111803962G>A, NP_000681.2:p.Glu504Lys, 2230021, rs2230021, NG_012250.2:g.42076G>A +PA166321461 rs6710852 PA26033 CALCRL NC_000002.12:187396194 1 0 0 0 0 rs6710852, NC_000002.12:g.187396194T>C, 6710852, NC_000002.12:g.187396194=, NC_000002.11:g.188260921T>C, NC_000002.12:g.187396194T>G, NC_000002.11:g.188260921=, NC_000002.11:g.188260921T>G +PA166155748 rs6714486 PA37174,PA37182,PA37183,PA419 UGT1A10,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233671659 7 1 0 0 0 NC_000002.12:g.233671659T>A, XR_241241.1:n.-190T>A, NG_002601.2:g.86916=, 58682763, NC_000002.11:g.234580305=, NG_002601.2:g.86916T>A, NC_000002.12:g.233671659=, NM_019075.2:c.855+34282T>A, NM_019076.4:c.855+53097T>A, rs58682763, 57814275, rs57814275, rs6714486, 6714486, NC_000002.11:g.234580305T>A, NM_021027.2:c.-276T>A +PA166180109 rs671531 PA31945 OPRM1 NC_000006.12:154119607 5 1 0 0 0 671531, NC_000006.11:g.154440742A>T, NG_021208.2:g.114107A>T, NC_000006.12:g.154119607=, NC_000006.11:g.154440742=, NC_000006.12:g.154119607A>G, NG_021208.2:g.114107=, NC_000006.12:g.154119607A>T, rs671531, 17181366, NG_021208.2:g.114107A>G, 58722171, NC_000006.11:g.154440742A>G +PA166177554 rs6715729 PA36302 TACR1 NC_000002.12:75198602 2 0 0 0 0 NC_000002.12:g.75198602A>G, NC_000002.11:g.75425728A>T, NG_029522.1:g.5918=, NG_029522.1:g.5918T>C, NC_000002.11:g.75425728=, NG_029522.1:g.5918T>A, rs6715729, 6715729, 61617893, NP_001049.1:p.Phe111=, NC_000002.12:g.75198602A>T, NC_000002.11:g.75425728A>G, NP_001049.1:p.Phe111Leu, NC_000002.12:g.75198602= +PA166163838 rs6719578 NC_000002.12:181691408 1 0 0 0 0 NC_000002.12:g.181691408C>G, NC_000002.12:g.181691408=, rs6719578, 6719578, NC_000002.11:g.182556135=, NC_000002.11:g.182556135C>G +PA166154295 rs671976 PA25236,PA143485482 BAD,GPR137 NC_000011.10:64278557 1 0 0 0 0 XM_011545171.1:c.3+7896G>A, 58298578, XM_011545172.1:c.3+7896G>A, NC_000011.9:g.64046029=, NM_004322.3:c.187+5625C>T, XM_011545168.1:c.3+7896G>A, 671976, NC_000011.9:g.64046029G>T, NC_000011.10:g.64278557G>T, rs58298578, NC_000011.10:g.64278557=, XM_011545170.1:c.3+7896G>A, NC_000011.10:g.64278557G>A, NM_032989.2:c.187+5625C>T, NC_000011.9:g.64046029G>A, rs671976 +PA166313201 rs6720173 PA24411,PA142671919 ABCG5,DYNC2LI1 NC_000002.12:43813262 2 0 0 0 0 NC_000002.12:g.43813262=, NG_008883.1:g.30558=, NC_000002.11:g.44040401=, NC_000002.12:g.43813262G>C, NC_000002.11:g.44040401G>C, 6720173, 17423788, rs6720173, NP_071881.1:p.Gln604=, NG_008883.1:g.30558C>G, 52807957, NG_053008.1:g.44224G>C, NP_071881.1:p.Gln604Glu, NG_053008.1:g.44224= +PA166155749 rs6720783 PA37838 SLC5A7 NC_000002.12:108006866 1 0 0 0 0 XM_011511580.1:c.643+664T>G, 58517179, NM_001305005.2:c.895+664T>G, NG_042267.1:g.25353T>G, NC_000002.12:g.108006866=, rs6720783, 6720783, NC_000002.11:g.108623322=, 58228354, NM_001305007.2:c.154+664T>G, rs58517179, XM_011511581.1:c.580+664T>G, NC_000002.12:g.108006866T>G, NC_000002.12:g.108006866T>C, rs58228354, NC_000002.12:g.108006866T>A, NM_001305006.2:c.580+664T>G, XM_011511579.1:c.781+664T>G, NC_000002.11:g.108623322T>G, NC_000002.11:g.108623322T>A, XM_005264009.1:c.580+664T>G, NG_042267.1:g.25353T>C, NC_000002.11:g.108623322T>C, NG_042267.1:g.25353T>A, XM_005264008.1:c.895+664T>G, NM_021815.4:c.895+664T>G, NG_042267.1:g.25353= +PA166155750 rs6720975 PA33765 PRKCE NC_000002.12:45797073 1 0 0 0 0 XM_011532971.1:c.61-45927T>C, XM_005264429.1:c.349-45927T>C, XR_939695.1:n.1135-45927T>C, XM_005264431.2:c.349-45927T>C, 57219463, XM_005264430.1:c.-102-45927T>C, XM_011532974.1:c.61-45927T>C, rs57219463, XM_005264431.1:c.349-45927T>C, NM_005400.2:c.349-45927T>C, XM_011532978.1:c.7-45927T>C, XM_011532979.1:c.4-45927T>C, XM_011532972.1:c.61-45927T>C, NC_000002.11:g.46024212T>A, NC_000002.11:g.46024212T>C, XM_011532975.1:c.61-45927T>C, NC_000002.12:g.45797073=, NC_000002.12:g.45797073T>C, XM_011532977.1:c.7-45927T>C, NC_000002.12:g.45797073T>A, XM_005264428.1:c.349-45927T>C, XM_011532976.1:c.61-45927T>C, rs6720975, XM_011532970.1:c.61-45927T>C, XM_011532973.1:c.61-45927T>C, 6720975, NC_000002.11:g.46024212= +PA166155751 rs6721498 PA31786 NRXN1 NC_000002.12:50485874 1 0 0 0 0 XM_011533179.1:c.3046+10031C>T, rs17476180, NM_001135659.1:c.3190+10031C>T, NG_011878.1:g.551663=, XM_011533167.1:c.3091+10031C>T, XM_011533168.1:c.3088+10031C>T, XM_011533173.1:c.3061+10031C>T, XM_011533177.1:c.3091+10031C>T, XM_011533180.1:c.3091+10031C>T, NG_011878.1:g.551663C>G, rs6721498, 6721498, XM_011533174.1:c.3046+10031C>T, XM_005264643.1:c.3046+10031C>T, XM_011533178.1:c.3001+10031C>T, NC_000002.12:g.50485874G>A, XM_011533170.1:c.3073+10031C>T, NC_000002.12:g.50485874G>C, XM_005264642.1:c.3091+10031C>T, XM_011533169.1:c.3079+10031C>T, NM_004801.4:c.3070+10031C>T, NG_011878.1:g.551663C>T, XM_011533171.1:c.3070+10031C>T, XM_006712141.2:c.3091+10031C>T, NC_000002.12:g.50485874=, XM_006712137.2:c.3091+10031C>T, XM_011533183.1:c.2224+10031C>T, NC_000002.11:g.50713012G>C, NC_000002.11:g.50713012=, NC_000002.11:g.50713012G>A, XM_011533175.1:c.3034+10031C>T, XM_011533184.1:c.2131+10031C>T, 17476180, XM_011533176.1:c.3031+10031C>T, XM_011533181.1:c.2296+10031C>T, XM_005264642.2:c.3091+10031C>T, XM_005264643.2:c.3046+10031C>T, XM_011533182.1:c.2251+10031C>T, XM_011533172.1:c.3064+10031C>T, XM_006712140.2:c.3091+10031C>T +PA166156935 rs672170 PA34368 RGS17 NC_000006.12:153024050 1 1 0 0 0 rs60353429, 60220151, NC_000006.11:g.153345185A>T, NC_000006.12:g.153024050=, NC_000006.11:g.153345185=, NC_000006.12:g.153024050A>G, rs672170, NM_012419.4:c.444+212T>C, 60353429, NC_000006.11:g.153345185A>G, XM_011535753.1:c.477+212T>C, XM_011535754.1:c.444+212T>C, XM_011535752.1:c.489+212T>C, 672170, rs60220151, NC_000006.12:g.153024050A>T +PA166155752 rs6721961 PA31588 NFE2L2 NC_000002.12:177265309 4 0 0 0 0 NC_000002.11:g.178130037T>C, NM_001313901.1:c.-1876A>C, 117801448, NM_001313903.1:c.-733A>C, NC_000002.11:g.178130037T>G, NM_001145413.3:c.-1910A>C, NM_001145412.3:c.-1910A>C, rs6721961, 6721961, NC_000002.11:g.178130037=, NC_000002.12:g.177265309T>G, NC_000002.12:g.177265309=, rs117801448, NC_000002.12:g.177265309T>A, NM_001313900.1:c.-1784A>C, NM_001313904.1:c.-2091A>C, NM_006164.4:c.-733A>C, NC_000002.12:g.177265309T>C, NC_000002.11:g.178130037T>A, NM_001313902.1:c.-733A>C +PA166199002 rs6722745 PA162405069 SULT1C3 NC_000002.12:108258788 1 1 0 0 0 NC_000002.12:g.108258788T>G, NC_000002.11:g.108875244=, 52824898, 386604669, 59008315, NP_001008743.1:p.Met194Thr, 6722745, rs6722745, NP_001008743.1:p.Met194=, NP_001008743.1:p.Met194Arg, NC_000002.11:g.108875244T>C, NC_000002.11:g.108875244T>G, NC_000002.12:g.108258788=, NC_000002.12:g.108258788T>C +PA166155354 rs672348 PA27380 DMPK NC_000019.10:45781076 1 0 0 0 0 XR_243909.1:n.298+1117A>C, NM_001081562.2:c.160+1117A>C, 672348, NC_000019.9:g.46284334T>A, NM_001081563.2:c.-1017A>C, XR_243910.1:n.298+1117A>C, NG_009784.1:g.6482=, NM_001288766.1:c.160+1117A>C, NC_000019.10:g.45781076T>G, NG_009784.1:g.6482A>C, NC_000019.10:g.45781076T>A, NM_004409.4:c.160+1117A>C, NM_001081560.2:c.160+1117A>C, NM_001288765.1:c.-1569A>C, rs672348, XM_005258606.1:c.160+1117A>C, NC_000019.9:g.46284334=, XM_005258605.1:c.180-695A>C, NC_000019.10:g.45781076=, NC_000019.9:g.46284334T>G, NG_009784.1:g.6482A>T, NM_001288764.1:c.180-695A>C, XM_005258607.1:c.-1017A>C, XR_243908.1:n.299-695A>C +PA166185602 rs6724624 NC_000002.12:233911933 1 0 0 0 0 rs6724624, NC_000002.11:g.234820578C>G, 6724624, NC_000002.11:g.234820578=, 58526402, NC_000002.12:g.233911933C>G, 12996375, NC_000002.12:g.233911933= +PA166179896 rs6725334 PA36302 TACR1 NC_000002.12:75195905 1 0 0 0 0 NC_000002.11:g.75423031=, 60686746, 6725334, NC_000002.12:g.75195905=, NC_000002.12:g.75195905A>G, NG_029522.1:g.8615T>A, rs6725334, NC_000002.11:g.75423031A>G, NG_029522.1:g.8615=, NC_000002.12:g.75195905A>T, NC_000002.11:g.75423031A>T, NG_029522.1:g.8615T>C +PA166155753 rs6726454 PA27809 EPAS1 NC_000002.12:46334063 1 0 0 0 0 NM_001430.4:c.27-12810A>G, NC_000002.11:g.46561202A>T, NG_016000.1:g.41662A>T, rs6726454, 6726454, 59690653, NG_016000.1:g.41662A>G, XR_940055.1:n.2355+1721T>C, NC_000002.12:g.46334063=, NC_000002.12:g.46334063A>C, NC_000002.11:g.46561202=, NC_000002.12:g.46334063A>G, NC_000002.11:g.46561202A>G, NC_000002.11:g.46561202A>C, NG_016000.1:g.41662A>C, XM_011532698.1:c.65+8187A>G, NG_016000.1:g.41662=, NC_000002.12:g.46334063A>T, rs59690653 +PA166171043 rs6728642 PA162387456 FAM178B NC_000002.12:96941334 1 1 0 0 0 NC_000002.11:g.97607071A>G, NC_000002.12:g.96941334=, 6728642, NC_000002.12:g.96941334A>G, rs6728642, NC_000002.11:g.97607071= +PA166253741 rs6729738 NC_000002.12:200678773 1 0 0 0 0 6729738, NC_000002.11:g.201543496=, NC_000002.11:g.201543496C>T, rs6729738, NC_000002.12:g.200678773C>T, NC_000002.11:g.201543496C>A, NC_000002.12:g.200678773C>A, NC_000002.12:g.200678773= +PA166155754 rs6731242 PA37174,PA37182,PA37183,PA419 UGT1A10,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233670047 1 0 0 0 0 NM_021027.2:c.-1888T>G, NC_000002.11:g.234578693=, rs6731242, 6731242, NG_002601.2:g.85304=, XR_241241.1:n.-1802T>G, NG_002601.2:g.85304T>A, NM_019076.4:c.855+51485T>G, NC_000002.12:g.233670047T>G, NG_002601.2:g.85304T>G, NC_000002.12:g.233670047T>A, NC_000002.12:g.233670047=, NC_000002.11:g.234578693T>A, NC_000002.11:g.234578693T>G, NM_019075.2:c.855+32670T>G +PA166249202 rs6735923 NC_000002.12:159913077 2 0 0 0 0 NC_000002.11:g.160769588T>G, NC_000002.11:g.160769588=, NC_000002.12:g.159913077T>C, NC_000002.12:g.159913077=, NC_000002.11:g.160769588T>C, rs6735923, 6735923, 57320883, NC_000002.12:g.159913077T>G +PA166153895 rs67376798 PA145 DPYD NC_000001.11:97082391 62 4 1 3 0 NG_008807.2:g.843669A>T, 199469564, NG_008807.2:g.843669=, XM_005270561.1:c.2735A>T, XP_005270619.1:p.Asp877Val, NC_000001.10:g.97547947=, rs199469564, NC_000001.11:g.97082391=, XP_005270618.1:p.Asp912Val, XM_005270562.1:c.2630A>T, XP_005270619.2:p.Asp877Val, 386467430, NC_000001.10:g.97547947T>A, NC_000001.11:g.97082391T>A, NM_000110.3:c.2846A>T, rs386467430, XM_005270562.3:c.2630A>T, rs67376798, NP_000101.2:p.Asp949Val, rs67376799, 67376798, 67376799, NP_000101.2:p.Asp949= +PA166155755 rs6740584 PA26864 CREB1 NC_000002.12:207564627 1 0 0 0 0 XR_241291.1:n.531-2836T>C, 6740584, rs6740584, NC_000002.12:g.207564627=, XM_011510653.1:c.-320-2836T>C, NG_023299.1:g.39736=, XR_241293.1:n.463-2836T>C, rs17811905, XM_011510652.1:c.304-2836T>C, XR_241289.1:n.531-2836T>C, XM_011510646.1:c.304-2836T>C, NC_000002.12:g.207564627T>C, XM_005246323.1:c.142-2836T>C, XR_241292.1:n.531-2836T>C, NC_000002.12:g.207564627T>A, XM_011510651.1:c.142-2836T>C, 17811905, NC_000002.11:g.208429351T>A, XM_011510649.1:c.184-2836T>C, NC_000002.11:g.208429351T>C, XM_011510650.1:c.184-2836T>C, XM_011510647.1:c.262-2836T>C, NG_023299.1:g.39736T>A, NC_000002.11:g.208429351=, NM_134442.3:c.304-2836T>C, NG_023299.1:g.39736T>C, XR_922862.1:n.319-2836T>C, XR_241290.1:n.531-2836T>C, XM_011510645.1:c.304-2836T>C, NM_004379.3:c.262-2836T>C, XM_005246324.1:c.304-2836T>C, XM_011510648.1:c.304-2836T>C, XR_427071.1:n.463-2836T>C +PA166286601 rs6744284 PA37174,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233716651 2 0 0 0 0 NG_002601.2:g.131908=, NC_000002.11:g.234625297C>T, NC_000002.11:g.234625297=, NG_002601.2:g.131908C>T, NC_000002.12:g.233716651C>T, rs6744284, 57672961, NC_000002.12:g.233716651=, 6744284 +PA166169465 rs6746030 PA35010 SCN9A NC_000002.12:166242648 3 0 0 0 0 80356467, rs6746030, 6746030, NC_000002.11:g.167099158=, NC_000002.12:g.166242648=, NC_000002.11:g.167099158A>G, 58967301, NC_000002.12:g.166242648A>C, NC_000002.11:g.167099158A>C, NG_012798.1:g.138340C>G, NC_000002.12:g.166242648A>G, NP_002968.1:p.Arg1150Trp, NP_002968.1:p.Arg1150Gly, NG_012798.1:g.138340C>T, 17748465 +PA166155757 rs6749447 PA38243 STK39 NC_000002.12:168184876 1 1 0 0 0 NC_000002.12:g.168184876=, NG_052783.1:g.67720A>G, NG_052783.1:g.67720=, NC_000002.11:g.169041386T>G, XM_011510968.1:c.209-2786A>C, NG_052783.1:g.67720A>C, NC_000002.11:g.169041386T>C, XM_005246465.2:c.209-2786A>C, NC_000002.12:g.168184876T>C, rs6749447, 6749447, NC_000002.11:g.169041386=, NC_000002.12:g.168184876T>G, XM_005246465.1:c.209-2786A>C, XM_011510967.1:c.209-2786A>C, NM_013233.2:c.209-2786A>C, XM_011510966.1:c.209-2786A>C +PA166154248 rs675 PA24887 APOA4 NC_000011.10:116820959 1 0 0 0 0 rs52810209, NC_000011.9:g.116691675=, NC_000011.9:g.116691675T>C, NG_012044.1:g.7337A>T, NC_000011.9:g.116691675T>G, rs675, NG_012044.1:g.7337A>G, NC_000011.9:g.116691675T>A, 52810209, 675, rs45474794, 17250988, NG_012044.1:g.7337A>C, NC_000011.10:g.116820959=, NP_000473.2:p.Thr367Pro, 45474794, rs17250988, NP_000473.2:p.Thr367Ser, NC_000011.10:g.116820959T>G, NP_000473.2:p.Thr367Ala, NC_000011.10:g.116820959T>A, NM_000482.3:c.1099A>T, NC_000011.10:g.116820959T>C, NG_012044.1:g.7337=, NP_000473.2:p.Thr367=, rs9282882, 9282882 +PA166176395 rs6750142 PA25305 BCL2L11 NC_000002.12:111166052 1 0 0 0 0 NG_029006.1:g.50139A>T, NC_000002.12:g.111166052=, NC_000002.11:g.111923629A>T, NG_029006.1:g.50139=, NC_000002.11:g.111923629=, rs6750142, 6750142, NC_000002.12:g.111166052A>T +PA166180106 rs675026 PA31945 OPRM1 NC_000006.12:154093428 3 0 0 0 0 NG_021208.2:g.87928A>C, 675026, NP_001008505.2:p.Gly441=, NG_021208.2:g.87928A>G, NC_000006.12:g.154093428=, 60516371, NC_000006.12:g.154093428A>G, NG_021208.2:g.87928=, NC_000006.11:g.154414563A>G, NC_000006.12:g.154093428A>C, NC_000006.11:g.154414563=, NC_000006.11:g.154414563A>C, rs675026, 3798681 +PA166155758 rs6752303 PA134920089 GALNT14 NC_000002.12:31024619 1 0 0 0 0 NG_051040.1:g.119108=, rs56566923, NG_051040.1:g.119108A>G, rs61068192, NC_000002.12:g.31024619T>C, 56952366, NM_024572.3:c.130-31612A>G, NC_000002.12:g.31024619=, NM_001253826.1:c.315-58317A>G, NM_001253827.1:c.70-31612A>G, XM_011533106.1:c.43-31612A>G, NC_000002.11:g.31247485T>C, XM_005264559.1:c.25-31612A>G, rs111184598, 56566923, 6752303, XM_011533105.1:c.70-31612A>G, 111184598, rs56952366, rs6752303, NR_045602.1:n.903-31612A>G, NC_000002.11:g.31247485=, XM_011533104.1:c.448-31612A>G, 61068192 +PA166154296 rs675388 PA213 KCNJ1 NC_000011.10:128838114 1 0 0 0 0 NC_000011.10:g.128838114=, NM_153767.3:c.*1011C>T, rs386604882, NC_000011.10:g.128838114G>A, NC_000011.9:g.128708009G>A, 58098504, NG_009379.1:g.34260C>T, NG_009379.1:g.34260=, NM_000220.4:c.*1011C>T, NM_153764.2:c.*1011C>T, rs675388, NC_000011.9:g.128708009=, 675388, NM_153765.2:c.*1011C>T, NM_153766.2:c.*1011C>T, rs58098504, 386604882 +PA166155759 rs6755571 PA37174,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233718890 10 2 1 0 0 NM_001072.3:c.861+25025C>A, 17864908, NM_019075.2:c.856-48144C>A, XR_241241.1:n.941+46101C>A, rs58561863, NG_002601.2:g.134147=, NM_019078.1:c.867+5032C>A, 52805064, NM_205862.1:c.60+25025C>A, NP_009051.1:p.Pro24Thr, rs17864908, NG_002601.2:g.134147C>A, 58561863, NC_000002.11:g.234627536C>A, XR_241238.1:n.126C>A, 6755571, NM_019076.4:c.856-48144C>A, rs6755571, NM_019077.2:c.855+36098C>A, NC_000002.12:g.233718890=, NG_002601.2:g.134147C>T, NC_000002.12:g.233718890C>A, XR_241240.1:n.1022+25025C>A, NC_000002.11:g.234627536C>T, NP_009051.1:p.Pro24=, NM_021027.2:c.855+46101C>A, NC_000002.12:g.233718890C>T, NC_000002.11:g.234627536=, NP_009051.1:p.Pro24Ser, rs52805064, NM_007120.2:c.70C>A +PA166285281 rs67562832 PA33308 PIK3CA NC_000003.12:179173633 1 0 0 0 0 67562832, rs67562832, NG_012113.2:g.30111=, NC_000003.12:g.179173633=, NC_000003.12:g.179173633A>G, NC_000003.11:g.178891421=, NC_000003.11:g.178891421A>G, 67562833, NG_012113.2:g.30111A>G +PA166155760 rs6759892 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233693023 26 5 2 0 0 NG_002601.2:g.108280=, UGT1A6-T19G, rs60624335, NC_000002.11:g.234601669=, NM_019075.2:c.855+55646T>G, NM_019077.2:c.855+10231T>G, rs17670302, NP_001063.2:p.Ser7=, NC_000002.12:g.233693023T>G, NP_001063.2:p.Ser7Ala, XR_241240.1:n.180T>G, NM_001072.3:c.19T>G, NM_205862.1:c.-7-776T>G, NM_019076.4:c.856-74011T>G, rs6759892, NM_021027.2:c.855+20234T>G, NC_000002.12:g.233693023=, NG_002601.2:g.108280T>G, XR_241241.1:n.941+20234T>G, NC_000002.11:g.234601669T>G, 6759892, 60624335, 17670302 +PA166155597 rs676210 PA50 APOB NC_000002.12:21008652 1 1 0 0 0 NC_000002.12:g.21008652=, NC_000002.12:g.21008652G>T, NG_011793.1:g.40422C>A, NC_000002.11:g.21231524G>A, 52830519, NC_000002.11:g.21231524G>T, NM_000384.2:c.8216C>T, 117511753, NG_011793.1:g.40422C>T, 676210, NG_011793.1:g.40422=, NP_000375.3:p.Pro2739Gln, 17240903, NP_000375.3:p.Pro2739Leu, rs676210, rs60113879, NP_000375.2:p.Pro2739Leu, NP_000375.3:p.Pro2739=, rs117511753, NC_000002.11:g.21231524=, NC_000002.12:g.21008652G>A, 60113879, rs52830519, rs17240903, XM_011532809.1:c.5869+2081C>T +PA166211523 rs67624739 PA26491 CHRNA5 NC_000015.10:78565480_78565501 2 0 0 0 0 rs67624739, 67624739, NG_023328.1:g.4961_4982del, 67624740, NC_000015.10:g.78565471_78565501=, NC_000015.10:g.78565480_78565501del, NC_000015.9:g.78857813_78857843=, NC_000015.9:g.78857822_78857843del, NG_023328.1:g.4952_4982= +PA166177545 rs6766410 PA134925741 HTR3C NC_000003.12:184056974 3 0 0 0 0 NC_000003.12:g.184056974C>A, NG_012749.1:g.8928C>T, 52821884, 57343081, NC_000003.11:g.183774762C>A, NC_000003.12:g.184056974=, NC_000003.11:g.183774762=, rs6766410, 6766410, NG_012749.1:g.8928=, NG_012749.1:g.8928C>A, NC_000003.12:g.184056974C>T, NP_570126.2:p.Asn163=, NP_570126.2:p.Asn163Lys, NC_000003.11:g.183774762C>T +PA166153584 rs676643 PA29550 HTR1D NC_000001.11:23194847 1 0 0 0 0 NC_000001.11:g.23194847G>C, NC_000001.10:g.23521340G>A, rs61725275, NC_000001.11:g.23194847G>A, 676643, rs386604973, NM_000864.4:c.-628C>T, NC_000001.11:g.23194847=, 3753253, 61725275, rs3753253, NC_000001.10:g.23521340=, rs676643, 386604973, NC_000001.10:g.23521340G>C +PA166157502 rs67666821 PA130 CYP3A4 NC_000007.14:99758184_99758187 19 8 8 0 0 NC_000007.14:g.99758188dup, NC_000007.14:g.99758183_99758184insT, NC_000007.14:g.99758184_99758188=, NC_000007.13:g.99355806_99355807insT, NC_000007.13:g.99355807_99355811=, XP_011514143.1:p.Pro519Thrfs, NC_000007.13:g.99355811dup, NG_008421.1:g.30998_31002=, NM_017460.5:c.1461_1462insA, XM_011515841.1:c.1554_1555insA, XM_011515842.1:c.1551_1552insA, NC_000007.14:g.99758188del, NG_008421.1:g.31002_31003insA, NP_001189784.1:p.Pro487Thrfs, NM_001202855.2:c.1458_1459insA, NP_059488.2:p.Pro488fs, rs67666821, NP_059488.2:p.Lys487fs, rs67666822, XP_011514144.1:p.Pro518Thrfs, 67666821, 67666822, NG_008421.1:g.31002dup, NC_000007.13:g.99355811del, NG_008421.1:g.31002del, NP_059488.2:p.Glu486_Lys487=, NP_059488.2:p.Pro488Thrfs +PA166156408 rs6769511 PA128394577 IGF2BP2 NC_000003.12:185812502 1 0 0 0 0 NM_001007225.1:c.239+10651A>G, rs17436166, XR_427358.2:n.318+10651A>G, NM_001291874.1:c.50+8510A>G, NG_011602.1:g.17538A>G, rs57496207, 17436166, NC_000003.12:g.185812502=, NM_006548.4:c.239+10651A>G, NC_000003.11:g.185530290=, NM_001291873.1:c.50+8510A>G, NM_001291875.1:c.-106+8510A>G, XM_005247073.1:c.50+8510A>G, XM_011512339.1:c.239+10651A>G, NM_001291872.1:c.50+8510A>G, NC_000003.12:g.185812502T>C, 57496207, XM_011512338.1:c.239+10651A>G, rs6769511, XM_005247074.1:c.50+8510A>G, 6769511, NC_000003.11:g.185530290T>C, XM_005247075.1:c.50+8510A>G, NG_011602.1:g.17538=, XM_011512341.1:c.239+10651A>G, NM_001291869.1:c.239+10651A>G +PA166348241 rs6770663 PA370 KCNAB1 NC_000003.12:156314389 1 1 0 0 0 rs6770663, 6770663, NC_000003.11:g.156032178A>G, NG_042292.1:g.198842=, NC_000003.12:g.156314389A>T, NG_042292.1:g.198842A>G, NC_000003.11:g.156032178A>T, 59782925, NC_000003.12:g.156314389=, NC_000003.11:g.156032178=, NG_042292.1:g.198842A>T, NC_000003.12:g.156314389A>G +PA166288065 rs67738640 NC_000020.11:54314787 1 0 0 0 0 NC_000020.11:g.54314787=, 67738641, rs67738640, NC_000020.10:g.52931326=, NC_000020.11:g.54314787T>C, NC_000020.10:g.52931326T>C, 67738640 +PA166156409 rs6773957 PA134933118 ADIPOQ NC_000003.12:186855916 1 0 0 0 0 NC_000003.11:g.186573705A>C, XM_011513324.1:c.*1212A>G, NC_000003.12:g.186855916=, NC_000003.11:g.186573705=, rs60603726, NG_021140.1:g.18243A>C, NG_021140.1:g.18243A>G, 17846870, rs56725722, 60603726, 6773957, rs17846870, rs6773957, NC_000003.12:g.186855916A>G, NM_004797.3:c.*1212A>G, NR_046662.1:n.208T>C, NC_000003.11:g.186573705A>G, 56725722, NM_001177800.1:c.*1212A>G, NC_000003.12:g.186855916A>C, NG_021140.1:g.18243= +PA166178597 rs677830 PA31945 OPRM1 NC_000006.12:154107531 3 0 0 0 0 1067691, 59977603, NC_000006.11:g.154428666C>A, NG_021208.2:g.102031C>G, NP_001138758.1:p.Gln411Glu, NC_000006.12:g.154107531C>A, NC_000006.12:g.154107531C>T, NC_000006.12:g.154107531=, NC_000006.11:g.154428666C>T, NP_001138758.1:p.Gln411Ter, NG_021208.2:g.102031C>T, NP_001138758.1:p.Gln411Lys, NG_021208.2:g.102031=, NG_021208.2:g.102031C>A, rs677830, 677830, NC_000006.12:g.154107531C>G, NC_000006.11:g.154428666=, NC_000006.11:g.154428666C>G, NP_001138758.1:p.Gln411= +PA166157503 rs67784355 PA130 CYP3A4 NC_000007.14:99762206 13 1 1 0 0 NC_000007.14:g.99762206G>A, XP_011514144.1:p.Thr362Met, NG_008421.1:g.26980C>T, NM_001202855.2:c.1085C>T, NC_000007.13:g.99359829=, XM_011515841.1:c.1088C>T, NC_000007.13:g.99359829G>T, XM_011515842.1:c.1085C>T, NC_000007.14:g.99762206G>T, rs67784355, NP_001189784.1:p.Thr362Met, rs67784356, NM_017460.5:c.1088C>T, XP_011514143.1:p.Thr363Met, NP_059488.2:p.Thr363Lys, NC_000007.14:g.99762206=, NP_059488.2:p.Thr363Met, NG_008421.1:g.26980C>A, 67784356, NG_008421.1:g.26980=, NP_059488.2:p.Thr363=, NC_000007.13:g.99359829G>A, 67784355 +PA166156410 rs6782475 PA281 PPARG NC_000003.12:12429831 1 0 0 0 0 6782475, NC_000003.11:g.12471330=, NG_011749.1:g.146982=, XM_011533840.1:c.1187-4067T>G, NC_000003.12:g.12429831=, NM_015869.4:c.1271-4067T>G, NM_138711.3:c.1187-4067T>G, XM_011533844.1:c.736-4067T>G, NM_005037.5:c.1187-4067T>G, XM_011533842.1:c.1270+12677T>G, rs6782475, XM_011533841.1:c.1187-4067T>G, NC_000003.11:g.12471330T>G, NM_138712.3:c.1187-4067T>G, XM_011533843.1:c.820-4067T>G, NC_000003.12:g.12429831T>G, NG_011749.1:g.146982T>G +PA166156411 rs6785049 PA378 NR1I2 NC_000003.12:119814886 14 2 0 0 0 NM_003889.3:c.795-93G>A, NC_000003.12:g.119814886=, NC_000003.11:g.119533733G>A, NC_000003.12:g.119814886G>T, 58368790, NM_033013.2:c.684-93G>A, NG_011856.1:g.39403=, NG_011856.1:g.39403G>A, XM_005247866.1:c.630-93G>A, 6785049, NC_000003.11:g.119533733G>T, rs6785049, NC_000003.11:g.119533733=, NM_022002.2:c.912-93G>A, NC_000003.12:g.119814886G>A, rs58368790, NG_011856.1:g.39403G>T +PA166156412 rs6785930 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151338828 12 1 0 0 0 6785930, NP_073625.1:p.Asn6Lys, XM_011512392.1:c.1795-11231G>A, XM_011512394.1:c.2251-11231G>A, NC_000003.11:g.151056616G>T, NG_016019.1:g.50929=, NG_021244.1:g.256941=, XM_011512398.1:c.46-11231G>A, XM_011512387.1:c.2251-11231G>A, 117076892, XM_011512390.1:c.2146-11231G>A, NC_000003.12:g.151338828G>T, NP_795345.1:p.Asn6=, XM_005247096.1:c.2251-11231G>A, rs6785930, NM_022788.4:c.18C>T, NP_073625.1:p.Asn6=, rs117076892, 11538892, NG_016019.1:g.50929C>A, XM_011512391.1:c.1981-11231G>A, NG_021244.1:g.256941G>A, NM_053002.5:c.2146-11231G>A, XM_011512399.1:c.2251-11231G>A, NC_000003.12:g.151338828=, XM_011512393.1:c.2251-11231G>A, XM_011512386.1:c.2251-11231G>A, XM_011512389.1:c.2146-11231G>A, XM_011512395.1:c.2251-11231G>A, XM_011512388.1:c.2251-11231G>A, NG_016019.1:g.50929C>T, NG_021244.1:g.256941G>T, rs11538892, NC_000003.11:g.151056616G>A, NC_000003.12:g.151338828G>A, XM_006713487.2:c.2251-11231G>A, XM_011512396.1:c.676-11231G>A, rs386491364, NC_000003.11:g.151056616=, 386491364, NM_176876.2:c.18C>T +PA166156413 rs6787801 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151381953 5 2 0 0 0 XM_011512395.1:c.4591-703A>G, XM_006713487.2:c.4591-703A>G, NM_053002.5:c.4486-703A>G, XM_011512388.1:c.4591-703A>G, NG_016019.1:g.7804T>C, rs56558253, XM_011512389.1:c.4486-703A>G, rs17204473, XM_011512393.1:c.4591-703A>G, XM_011512400.1:c.1408-703A>G, XM_011512394.1:c.4591-703A>G, XM_011512387.1:c.4588-703A>G, XM_011512398.1:c.2386-703A>G, NC_000003.12:g.151381953=, XM_011512391.1:c.4321-703A>G, 17204473, XM_011512397.1:c.2458-703A>G, XM_011512396.1:c.3016-703A>G, rs6787801, NC_000003.11:g.151099741=, NC_000003.11:g.151099741A>C, 6787801, NM_022788.4:c.-180+2739T>C, rs58287028, NC_000003.12:g.151381953A>G, NC_000003.11:g.151099741A>G, NG_021244.1:g.300066=, XM_011512390.1:c.4486-703A>G, NC_000003.12:g.151381953A>C, NG_021244.1:g.300066A>C, 58287028, NG_016019.1:g.7804T>G, XM_005247096.1:c.4591-703A>G, NG_016019.1:g.7804=, XM_011512386.1:c.4591-703A>G, 56558253, NG_021244.1:g.300066A>G, XM_011512392.1:c.4135-703A>G +PA166175994 rs678849 PA31942 OPRD1 NC_000001.11:28818676 21 4 0 0 0 678849, NC_000001.11:g.28818676=, NC_000001.11:g.28818676C>T, NC_000001.10:g.29145188C>G, NC_000001.11:g.28818676C>G, 61109940, NC_000001.10:g.29145188C>T, NC_000001.10:g.29145188=, rs678849 +PA166156414 rs6791924 PA304 SCN5A NC_000003.12:38633208 1 0 0 0 0 NP_932173.1:p.Arg34Cys, XM_006713282.2:c.100C>T, XM_011533992.1:c.100C>T, NM_000335.4:c.100C>T, NG_008934.1:g.21465=, NM_001160160.1:c.100C>T, NP_001153633.1:p.Arg34Cys, NM_198056.2:c.100C>T, NP_001153632.1:p.Arg34Cys, NC_000003.12:g.38633208=, NC_000003.11:g.38674699=, XP_011532294.1:p.Arg34Cys, XP_011532293.1:p.Arg34Cys, NG_008934.1:g.21465C>T, NC_000003.11:g.38674699G>A, NC_000003.12:g.38633208G>A, rs6791924, XP_006713345.1:p.Arg34Cys, rs17221861, NM_001099405.1:c.100C>T, 6791924, NP_001092874.1:p.Arg34Cys, NP_001092875.1:p.Arg34Cys, NP_000326.2:p.Arg34=, 17221861, NM_001099404.1:c.100C>T, XM_011533991.1:c.100C>T, NP_000326.2:p.Arg34Cys, NM_001160161.1:c.100C>T +PA166179929 rs6792482 PA134866755 HTR3D NC_000003.12:184036241 1 0 0 0 0 NC_000003.12:g.184036241=, NC_000003.11:g.183754029T>A, NC_000003.11:g.183754029T>C, NG_012750.1:g.9698=, 17750594, NG_012750.1:g.9698T>A, NG_012750.1:g.9698T>C, 58577401, 6792482, rs6792482, 56444790, NC_000003.11:g.183754029=, NC_000003.12:g.184036241T>C, NC_000003.12:g.184036241T>A +PA166156415 rs6798347 PA134884590 MED12L NC_000003.12:151388370 2 0 0 0 0 XM_006713487.2:c.5451+198G>A, NG_021244.1:g.306483G>A, NM_053002.5:c.5346+198G>A, XM_011512388.1:c.5451+198G>A, XM_011512395.1:c.5451+198G>A, XM_011512389.1:c.5346+198G>A, NG_021244.1:g.306483=, NC_000003.12:g.151388370=, 59029418, XM_011512394.1:c.5451+198G>A, NC_000003.11:g.151106158G>A, NC_000003.11:g.151106158=, XM_011512398.1:c.3246+198G>A, XM_011512400.1:c.2268+198G>A, rs13070478, XM_011512391.1:c.5181+198G>A, XM_011512397.1:c.3318+198G>A, NG_016019.1:g.1387=, XM_011512387.1:c.5448+198G>A, NC_000003.12:g.151388370G>A, XM_011512393.1:c.5451+198G>A, XM_011512396.1:c.3876+198G>A, XM_011512386.1:c.5451+198G>A, 13070478, XM_011512390.1:c.5346+198G>A, NG_016019.1:g.1387C>T, XM_011512392.1:c.4995+198G>A, rs6798347, rs59029418, 6798347, XM_005247096.1:c.5451+198G>A +PA166162307 rs6798637 PA134884590 MED12L NC_000003.12:151388583 1 0 0 0 0 NC_000003.12:g.151388583=, NG_016019.1:g.1174=, NC_000003.12:g.151388583G>T, NG_021244.1:g.306696G>C, NC_000003.11:g.151106371G>T, rs6798637, 6798637, NG_021244.1:g.306696=, NG_016019.1:g.1174C>A, NC_000003.11:g.151106371=, NG_016019.1:g.1174C>G, NC_000003.11:g.151106371G>C, NG_021244.1:g.306696G>T, NC_000003.12:g.151388583G>C +PA166197882 rs679899 PA50 APOB NC_000002.12:21028042 1 1 0 0 0 NC_000002.12:g.21028042=, 1126420, 52818666, 679899, NP_000375.3:p.Ala618=, NP_000375.3:p.Ala618Val, NG_011793.1:g.21032C>T, NC_000002.12:g.21028042G>A, NG_011793.1:g.21032=, 57998826, 17240681, NC_000002.11:g.21250914G>A, 3181424, NC_000002.11:g.21250914=, rs679899, 116990259 +PA166157260 rs680055 PA427 CYP3A43 NC_000007.14:99859982 1 0 0 0 0 NC_000007.14:g.99859982C>G, NR_103868.1:n.978C>G, NP_073731.1:p.Pro340Ala, NP_476437.1:p.Pro340Ala, NG_007935.1:g.36970=, NC_000007.13:g.99457605C>G, NC_000007.13:g.99457605=, NM_057095.2:c.1018C>G, NP_073731.1:p.Pro340=, XM_011516493.1:c.1018C>G, NC_000007.14:g.99859982C>A, NM_057096.3:c.1018C>G, XP_011514795.1:p.Pro340Ala, NM_001278921.1:c.688C>G, rs680055, XP_011514796.1:p.Pro200Ala, 60416653, NP_476436.1:p.Pro340Ala, NG_007935.1:g.36970C>A, NM_022820.4:c.1018C>G, NP_073731.1:p.Pro340Thr, NC_000007.13:g.99457605C>A, NG_007935.1:g.36970C>G, rs60416653, NC_000007.14:g.99859982=, 680055, NR_103869.1:n.1242C>G, NP_001265850.1:p.Pro230Ala, XM_011516494.1:c.598C>G +PA166184209 rs680090 PA31942 OPRD1 NC_000001.11:28848949 1 0 0 0 0 NC_000001.10:g.29175461=, NC_000001.11:g.28848949G>A, NC_000001.10:g.29175461G>A, 680090, NC_000001.11:g.28848949=, rs680090, 59920334 +PA166156416 rs6801273 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151345042 2 0 0 0 0 XM_011512392.1:c.1795-5017T>C, XM_011512395.1:c.2251-5017T>C, XM_011512387.1:c.2251-5017T>C, XM_011512398.1:c.46-5017T>C, NG_016019.1:g.44715A>G, rs60519552, NC_000003.11:g.151062830=, XM_011512390.1:c.2146-5017T>C, NM_053002.5:c.2146-5017T>C, XM_011512394.1:c.2251-5017T>C, XM_011512399.1:c.2251-5017T>C, NC_000003.12:g.151345042T>C, NM_022788.4:c.-179-4282A>G, XM_011512386.1:c.2251-5017T>C, 56837348, NG_021244.1:g.263155T>C, XM_005247096.1:c.2251-5017T>C, NG_021244.1:g.263155=, rs56837348, 60519552, XM_011512393.1:c.2251-5017T>C, NC_000003.11:g.151062830T>C, XM_006713487.2:c.2251-5017T>C, NC_000003.12:g.151345042=, XM_011512388.1:c.2251-5017T>C, 6801273, rs6801273, XM_011512389.1:c.2146-5017T>C, XM_011512396.1:c.676-5017T>C, XM_011512391.1:c.1981-5017T>C, NG_016019.1:g.44715= +PA166154845 rs680244 PA26491 CHRNA5 NC_000015.10:78578946 6 0 0 0 0 rs680244, NM_000745.3:c.107-1865T>C, NC_000015.10:g.78578946T>C, XM_005254142.2:c.107-1865T>C, rs61325907, NC_000015.10:g.78578946=, NG_023328.1:g.18427T>C, 36028925, rs36028925, rs386605197, NC_000015.9:g.78871288T>C, XM_005254142.1:c.107-1865T>C, XM_011521174.1:c.107-1865T>C, 386605197, 61325907, 680244, NG_023328.1:g.18427=, NM_001307945.1:c.107-1865T>C, NC_000015.9:g.78871288= +PA166156417 rs6806020 PA26013,PA142671499 CACNA2D3,LRTM1 NC_000003.12:54940131 1 0 0 0 0 NC_000003.12:g.54940131=, NM_001304389.1:c.-221-14916A>G, XM_011533947.1:c.2450-28319T>C, NC_000003.11:g.54974158T>A, XM_011533955.1:c.986-28319T>C, XM_011533946.1:c.2306-28319T>C, NC_000003.12:g.54940131T>A, rs60680655, NC_000003.11:g.54974158T>C, XR_245149.1:n.2509-28319T>C, XR_940472.1:n.2571-28319T>C, XM_005265318.1:c.2432-28319T>C, NC_000003.11:g.54974158=, XM_005265337.1:c.-221-14916A>G, NM_018398.2:c.2450-28319T>C, 60680655, XM_011533954.1:c.1025-28319T>C, XR_427281.1:n.2571-28319T>C, XR_940473.1:n.2571-28319T>C, rs17320221, 17320221, XR_245150.1:n.2491-28319T>C, XM_005265319.1:c.2450-28319T>C, NC_000003.12:g.54940131T>C, NC_000003.11:g.54974158T>G, NC_000003.12:g.54940131T>G, rs6806020, 6806020 +PA166177547 rs6807362 PA134925741 HTR3C NC_000003.12:184060222 2 0 0 0 0 NC_000003.12:g.184060222G>A, NP_570126.2:p.Gly405Ala, NC_000003.12:g.184060222G>C, NG_012749.1:g.12176=, 52825356, NC_000003.11:g.183778010G>T, NG_012749.1:g.12176G>T, NP_570126.2:p.Gly405Val, NC_000003.12:g.184060222G>T, NC_000003.11:g.183778010=, NC_000003.11:g.183778010G>A, 6807362, NP_570126.2:p.Gly405=, NG_012749.1:g.12176G>C, NC_000003.12:g.184060222=, rs6807362, NC_000003.11:g.183778010G>C, NG_012749.1:g.12176G>A, NP_570126.2:p.Gly405Glu +PA166179936 rs6807670 PA134925741 HTR3C NC_000003.12:184060510 1 0 0 0 0 NC_000003.12:g.184060510G>A, NG_012749.1:g.12464=, NC_000003.11:g.183778298G>A, NG_012749.1:g.12464G>A, 59810298, NC_000003.11:g.183778298=, 6807670, rs6807670, NC_000003.12:g.184060510= +PA166179935 rs6808122 PA134925741 HTR3C NC_000003.12:184055033 1 0 0 0 0 NC_000003.12:g.184055033=, NG_012749.1:g.6987G>T, NC_000003.12:g.184055033G>C, NC_000003.12:g.184055033G>A, NC_000003.11:g.183772821G>T, NC_000003.11:g.183772821=, NG_012749.1:g.6987=, NG_012749.1:g.6987G>A, NG_012749.1:g.6987G>C, NC_000003.12:g.184055033G>T, rs6808122, 6808122, NC_000003.11:g.183772821G>C, 59803052, NC_000003.11:g.183772821G>A +PA166156418 rs6809699 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151338810 15 1 0 0 0 NG_021244.1:g.256923=, XM_011512389.1:c.2146-11249A>C, NC_000003.11:g.151056598=, XM_011512395.1:c.2251-11249A>C, NC_000003.12:g.151338810=, NC_000003.12:g.151338810A>C, NG_016019.1:g.50947T>A, NG_016019.1:g.50947T>C, NC_000003.12:g.151338810A>G, XM_011512391.1:c.1981-11249A>C, NG_016019.1:g.50947T>G, XM_011512387.1:c.2251-11249A>C, XM_011512393.1:c.2251-11249A>C, NM_022788.4:c.36T>G, XM_005247096.1:c.2251-11249A>C, NC_000003.11:g.151056598A>C, XM_011512386.1:c.2251-11249A>C, NP_795345.1:p.Gly12=, NG_016019.1:g.50947=, NC_000003.11:g.151056598A>G, P2RY12 G52T (rs6809699), NG_021244.1:g.256923A>G, NM_176876.2:c.36T>G, XM_011512398.1:c.46-11249A>C, NG_021244.1:g.256923A>C, 117564291, NM_053002.5:c.2146-11249A>C, NC_000003.11:g.151056598A>T, XM_011512394.1:c.2251-11249A>C, NP_073625.1:p.Gly12=, XM_011512399.1:c.2251-11249A>C, rs117564291, XM_006713487.2:c.2251-11249A>C, XM_011512390.1:c.2146-11249A>C, 6809699, NG_021244.1:g.256923A>T, rs6809699, XM_011512392.1:c.1795-11249A>C, NC_000003.12:g.151338810A>T, XM_011512396.1:c.676-11249A>C, XM_011512388.1:c.2251-11249A>C +PA166156606 rs6811453 PA24570 ADH1A NC_000004.12:99273820 1 0 0 0 0 NC_000004.11:g.100194977G>A, NC_000004.11:g.100194977=, NC_000004.12:g.99273820G>A, rs6811453, 6811453, XR_244675.1:n.691-305G>A, NR_037884.1:n.3790-12975G>A, NC_000004.12:g.99273820= +PA166183871 rs681243 PA31945 OPRM1 NC_000006.12:154106606 1 1 0 0 0 NC_000006.11:g.154427741T>C, 17339027, NC_000006.12:g.154106606T>A, NG_021208.2:g.101106T>C, rs681243, NC_000006.12:g.154106606=, NC_000006.12:g.154106606T>C, NG_021208.2:g.101106T>A, 1294064, NG_021208.2:g.101106=, NC_000006.11:g.154427741=, 1857817, 681243, 1067688, 1086422, NC_000006.11:g.154427741T>A +PA166156607 rs6813183 PA134968284 ADGRL3 NC_000004.12:61903413 2 1 0 0 0 XM_011531791.1:c.1888-6147G>C, rs60557652, NC_000004.11:g.62769131=, XM_011531787.1:c.1888-6147G>C, XM_011531789.1:c.1888-6147G>C, XM_011531786.1:c.1888-6147G>C, NC_000004.11:g.62769131G>A, NC_000004.12:g.61903413G>T, NC_000004.11:g.62769131G>C, XM_011531785.1:c.1873-6147G>C, NG_033950.1:g.411293G>C, XM_011531792.1:c.1684-6147G>C, XM_011531790.1:c.1888-6147G>C, 6813183, NC_000004.12:g.61903413=, NG_033950.2:g.707158G>C, NC_000004.11:g.62769131G>T, NG_033950.2:g.707158G>A, NC_000004.12:g.61903413G>C, XM_011531793.1:c.1888-6147G>C, XM_005265660.1:c.1888-6147G>C, NC_000004.12:g.61903413G>A, rs6813183, NG_033950.2:g.707158=, NM_015236.4:c.1684-6147G>C, NG_033950.2:g.707158G>T, XM_011531784.1:c.1873-6147G>C, 60557652, XM_005265661.1:c.1684-6147G>C, XM_011531788.1:c.1888-6147G>C +PA166156608 rs6817882 PA37189 UGT2B17 NC_000004.12:68570517 1 0 0 0 0 NG_017033.1:g.3011=, 57592495, rs6817882, rs11735497, 6817882, NC_000004.11:g.69436235=, NC_000004.12:g.68570517=, NC_000004.12:g.68570517C>T, NG_017033.1:g.3011G>A, NM_001077.3:c.-2033G>A, 9762402, 11735497, rs9762402, rs57592495, NC_000004.11:g.69436235C>T +PA166156609 rs6822259 NC_000004.12:69138245 1 0 0 0 0 NC_000004.12:g.69138245T>C, 6822259, 60473545, rs60473545, NC_000004.11:g.70003963=, NC_000004.11:g.70003963T>C, NC_000004.12:g.69138245=, rs6822259 +PA166156610 rs6822844 PA195 IL2 NC_000004.12:122588266 4 1 0 0 0 NC_000004.11:g.123509421G>T, NC_000004.11:g.123509421=, NC_000004.12:g.122588266G>T, NC_000004.12:g.122588266=, rs6822844, 61272394, rs61272394, 6822844 +PA166156611 rs6832850 PA35091 HMGB2 NC_000004.12:173328442 1 0 0 0 0 NC_000004.11:g.174249593=, NC_000004.12:g.173328442A>T, rs57214101, 6832850, NC_000004.12:g.173328442A>G, NC_000004.12:g.173328442=, rs6832850, NC_000004.11:g.174249593A>T, 57214101, NC_000004.11:g.174249593A>G, XR_939453.1:n.75+1178T>A +PA166156936 rs683369 PA329 SLC22A1 NC_000006.12:160130172 12 2 0 0 0 rs60689471, NP_003048.1:p.Leu160=, NC_000006.11:g.160551204G>C, XM_005267105.3:c.-97G>C, XM_006715552.1:c.480G>C, NC_000006.11:g.160551204G>A, NP_694857.1:p.Leu160Phe, XP_006715615.1:p.Leu160Phe, rs386423174, XM_005267104.3:c.-97G>C, XM_005267103.1:c.480G>C, XM_005267105.1:c.-97G>C, XM_005267102.3:c.480G>C, XM_005267102.1:c.480G>C, NC_000006.12:g.160130172G>T, 386423174, NC_000006.12:g.160130172=, NC_000006.11:g.160551204G>T, rs683369, XP_005267159.1:p.Leu160Phe, 56636486, XM_011536074.1:c.-97G>C, NM_153187.1:c.480G>C, NM_003057.2:c.480G>C, 1054115, rs1054115, 56679893, XM_005267104.1:c.-97G>C, 60689471, NC_000006.12:g.160130172G>C, rs56679893, rs56636486, NC_000006.12:g.160130172G>A, XP_005267160.1:p.Leu160Phe, 683369, NC_000006.11:g.160551204=, NP_003048.1:p.Leu160Phe +PA166156612 rs6838116 PA134893552 KCNIP4 NC_000004.12:21354260 1 1 0 0 0 NM_001035003.1:c.88+343090T>G, 61333655, rs112527101, NM_001035004.1:c.-24+190130T>G, NC_000004.11:g.21355883=, NM_025221.5:c.62-471551T>G, rs6838116, NM_147181.3:c.62-503593T>G, XM_011513885.1:c.88+343090T>G, 6838116, XM_011513887.1:c.-24+190130T>G, XM_011513882.1:c.62-471551T>G, NG_052969.1:g.599492T>G, NC_000004.12:g.21354260=, rs61333655, NM_147182.3:c.-24+408661T>G, NG_052969.1:g.599492=, NC_000004.12:g.21354260A>C, XM_011513888.1:c.-24+408661T>G, NC_000004.11:g.21355883A>C, XM_005248191.1:c.62-503593T>G, XR_925453.1:n.541+3587A>C, XM_011513886.1:c.62-503593T>G, 112527101 +PA166156613 rs6842571 NC_000004.12:80151510 1 0 0 0 0 NC_000004.11:g.81072664G>A, NC_000004.12:g.80151510=, NC_000004.12:g.80151510G>A, NC_000004.11:g.81072664=, NC_000004.12:g.80151510G>C, NC_000004.12:g.80151510G>T, rs6842571, 57678248, 6842571, rs57678248, NC_000004.11:g.81072664G>T, NC_000004.11:g.81072664G>C +PA166154846 rs684513 PA26491 CHRNA5 NC_000015.10:78566058 3 2 0 0 0 NM_000745.3:c.106+233C>G, rs871057, NC_000015.10:g.78566058C>T, rs684513, NC_000015.10:g.78566058=, XM_011521174.1:c.106+233C>G, NC_000015.9:g.78858400C>T, 871057, NG_023328.1:g.5539C>G, NC_000015.10:g.78566058C>G, NC_000015.9:g.78858400C>G, NM_001307945.1:c.106+233C>G, NG_023328.1:g.5539=, 684513, NG_023328.1:g.5539C>T, XM_005254142.1:c.106+233C>G, XM_005254142.2:c.106+233C>G, NC_000015.9:g.78858400= +PA166184876 rs6848893 NC_000004.12:180916588 2 1 0 0 0 NC_000004.11:g.181837741=, 17070338, NC_000004.11:g.181837741C>G, NC_000004.12:g.180916588=, NC_000004.11:g.181837741C>T, 6848893, NC_000004.12:g.180916588C>G, rs6848893, NC_000004.12:g.180916588C>T +PA166156614 rs6848982 PA147358673 ABHD18 NC_000004.12:128038058 1 0 0 0 0 NM_001319305.1:c.*2245G>A, NC_000004.11:g.128959213=, NC_000004.11:g.128959213G>A, NC_000004.12:g.128038058=, rs6848982, 6848982, NC_000004.12:g.128038058G>A, NM_001319306.1:c.*2245G>A, NM_001319307.1:c.*2245G>A +PA166156615 rs6850557 PA27664 EGF NC_000004.12:109989859 1 0 0 0 0 NM_001178131.2:c.2608+1150G>A, NG_011441.1:g.81976=, NG_011441.1:g.81976G>A, XM_005262796.2:c.2734+1150G>A, XM_005262800.2:c.2492-3388G>A, XM_005262801.2:c.2491+6318G>A, XR_427532.2:n.3187+1150G>A, NM_001178130.2:c.2734+1150G>A, NG_011441.2:g.81976=, XM_005262801.1:c.2491+6318G>A, XM_005262799.1:c.2734+1150G>A, XM_005262800.1:c.2492-3388G>A, NG_011441.2:g.81976G>A, NM_001963.5:c.2734+1150G>A, XM_011531707.1:c.2623+1150G>A, XM_005262797.1:c.2608+1150G>A, XM_005262798.2:c.2492-3388G>A, XM_011531708.1:c.2734+1150G>A, XM_005262797.2:c.2608+1150G>A, XM_005262798.1:c.2492-3388G>A, XM_006714124.2:c.2734+1150G>A, NC_000004.12:g.109989859=, NC_000004.11:g.110911015=, NC_000004.11:g.110911015G>A, rs6850557, XM_005262796.1:c.2734+1150G>A, NC_000004.12:g.109989859G>A, 6850557, XR_938699.1:n.3187+1150G>A +PA166180071 rs6851533 PA361 UGT2B7 NC_000004.12:69113032 2 0 0 0 0 NC_000004.11:g.69978750T>C, rs6851533, 6851533, 57188699, NC_000004.11:g.69978750T>A, NC_000004.12:g.69113032=, NC_000004.12:g.69113032T>A, 17466420, NC_000004.12:g.69113032T>C, NC_000004.11:g.69978750= +PA166176305 rs6853 PA31361 MYD88 NC_000003.12:38142879 2 1 0 0 0 60059853, NC_000003.12:g.38142879=, 3172305, rs6853, 6853, NC_000003.11:g.38184370A>G, NG_016964.1:g.9402=, NC_000003.12:g.38142879A>G, NC_000003.11:g.38184370=, NG_016964.1:g.9402A>G +PA166181279 rs6857600 PA390 ABCG2 NC_000004.12:88144923 1 0 0 0 0 NG_032067.2:g.91400G>A, rs6857600, NG_032067.2:g.91400=, NC_000004.11:g.89066075=, NC_000004.11:g.89066075C>T, 6857600, NC_000004.12:g.88144923C>T, NC_000004.12:g.88144923=, 58417113 +PA166181224 rs6858066 PA134968284 ADGRL3 NC_000004.12:61888602 3 0 0 0 0 NC_000004.12:g.61888602=, NC_000004.12:g.61888602A>G, 60133983, NC_000004.11:g.62754320A>G, NC_000004.11:g.62754320=, NG_033950.2:g.692347=, NG_033950.2:g.692347A>G, rs6858066, 6858066 +PA166156705 rs686 PA147 DRD1 NC_000005.10:175441697 4 1 0 0 0 17065037, rs1301802, rs58350939, 1301802, 251938, NG_011802.1:g.7464C>G, rs686, NC_000005.9:g.174868700G>T, NM_000794.3:c.*62C>T, NC_000005.10:g.175441697G>C, NC_000005.10:g.175441697G>A, NC_000005.9:g.174868700=, rs17065037, 686, NG_011802.1:g.7464C>T, NC_000005.9:g.174868700G>A, rs251938, 58350939, NG_011802.1:g.7464C>A, NC_000005.10:g.175441697G>T, NC_000005.9:g.174868700G>C, NG_011802.1:g.7464=, NC_000005.10:g.175441697= +PA166160895 rs6864049 NC_000005.10:124994829 1 0 0 0 0 NC_000005.10:g.124994829A>T, NC_000005.10:g.124994829A>G, 6864049, NC_000005.9:g.124330522A>T, rs6864049, NC_000005.10:g.124994829A>C, NC_000005.9:g.124330522A>C, 60122584, NC_000005.9:g.124330522A>G, NC_000005.9:g.124330522=, NC_000005.10:g.124994829= +PA166169853 rs6865420 PA25921 C6 NC_000005.10:41158470 1 0 0 0 0 6865420, rs6865420, NC_000005.9:g.41158572A>T, NC_000005.10:g.41158470A>C, NG_011582.1:g.107969T>G, NC_000005.9:g.41158572=, NC_000005.10:g.41158470=, NG_011582.1:g.107969T>A, NC_000005.10:g.41158470A>G, NC_000005.9:g.41158572A>C, NG_011582.1:g.107969T>C, 58538548, NC_000005.9:g.41158572A>G, NG_011582.1:g.107969=, NC_000005.10:g.41158470A>T, 58581661 +PA166156839 rs6874435 PA134888452 SV2C NC_000005.10:76279030 1 0 0 0 0 XM_011543282.1:c.161-6132A>G, XM_005248470.1:c.914-6132A>G, rs58758616, 6874435, rs6874435, NC_000005.10:g.76279030A>G, NM_001297716.1:c.914-6132A>G, NM_014979.3:c.914-6132A>G, NC_000005.10:g.76279030=, NC_000005.9:g.75574855A>G, NC_000005.9:g.75574855=, 58758616, XM_011543281.1:c.914-6132A>G +PA166156840 rs6877011 PA28183 FLT4 NC_000005.10:180602471 5 0 0 0 0 NC_000005.9:g.180029471C>G, 59862001, XM_011534478.1:c.*721G>C, NG_011536.1:g.52154=, rs6877011, XM_011534483.1:c.*721G>C, XM_011534484.1:c.*721G>C, 6877011, NG_011536.1:g.52154G>C, XM_011534482.1:c.*721G>C, rs59862001, NC_000005.10:g.180602471=, NC_000005.9:g.180029471=, NM_182925.4:c.*721G>C, XM_011534477.1:c.*721G>C, NC_000005.10:g.180602471C>G +PA166160760 rs6878291 PA165660455 RICTOR NC_000005.10:39030605 2 0 0 0 0 NC_000005.9:g.39030707G>C, 6878291, NC_000005.9:g.39030707G>A, rs6878291, NC_000005.10:g.39030605=, NC_000005.10:g.39030605G>C, NC_000005.9:g.39030707=, NC_000005.10:g.39030605G>A +PA166155337 rs688 PA227 LDLR NC_000019.10:11116926 3 2 0 0 0 17851178, NG_009060.1:g.32546=, 57911429, 16991, NC_000019.10:g.11116926C>T, XP_011526312.1:p.Asn591=, 11565693, NM_000527.4:c.1773C>T, XM_011528011.1:c.1392C>T, NP_000518.1:p.Asn591=, NM_001195800.1:c.1269C>T, XM_005259909.1:c.1410C>T, XM_011528010.1:c.1773C>T, NG_009060.1:g.32546C>T, XP_011526313.1:p.Asn464=, XR_244074.2:n.1855+714C>T, rs11565693, NP_001182727.1:p.Asn591=, rs16991, NM_001195803.1:c.1392C>T, NC_000019.9:g.11227602=, rs688, XR_244074.1:n.1855+714C>T, rs57911429, NC_000019.10:g.11116926=, NP_001182729.1:p.Asn423=, NM_001195799.1:c.1650C>T, rs17616411, rs17851178, 688, NP_001182728.1:p.Asn550=, NM_001195798.1:c.1773C>T, XP_005259966.1:p.Asn470=, 17616411, NC_000019.9:g.11227602C>T, NP_001182732.1:p.Asn464= +PA166156841 rs6882321 PA134888452 SV2C NC_000005.10:76268005 1 0 0 0 0 rs61450487, NC_000005.10:g.76268005=, XM_011543282.1:c.161-17157A>C, XM_005248470.1:c.914-17157A>C, 61450487, XM_011543281.1:c.914-17157A>C, NC_000005.10:g.76268005A>C, rs6882321, NC_000005.9:g.75563830=, 6882321, NC_000005.9:g.75563830A>C, NM_001297716.1:c.914-17157A>C, NM_014979.3:c.914-17157A>C +PA166163168 rs6883259 PA24561 ADCY2 NC_000005.10:7439971 1 0 0 0 0 NC_000005.9:g.7440084=, NG_046913.1:g.48742=, NG_046913.1:g.48742G>A, rs6883259, 6883259, NC_000005.10:g.7439971=, NC_000005.10:g.7439971G>A, 58539974, NC_000005.9:g.7440084G>A +PA166156842 rs6883877 PA28489 GABRA1 NC_000005.10:161851332 1 0 0 0 0 rs56705003, NM_001127643.1:c.74+448C>T, NC_000005.10:g.161851332=, NM_001127644.1:c.74+448C>T, NG_011548.1:g.9142=, NC_000005.9:g.161278338=, NM_000806.5:c.74+448C>T, NM_001127645.1:c.74+448C>T, NM_001127648.1:c.74+448C>T, 6883877, rs6883877, NC_000005.10:g.161851332C>T, NG_011548.1:g.9142C>T, NC_000005.9:g.161278338C>T, 56705003 +PA166156843 rs6889896 NC_000005.10:125363546 1 0 0 0 0 rs6889896, rs61473661, NC_000005.10:g.125363546G>T, NC_000005.9:g.124699239G>T, NC_000005.9:g.124699239=, NT_187549.1:g.84081G>T, 61473661, NC_000005.10:g.125363546G>C, NR_109882.1:n.474-4054G>T, 6889896, NC_000005.10:g.125363546G>A, NC_000005.9:g.124699239G>A, NC_000005.10:g.125363546=, NC_000005.9:g.124699239G>C +PA166156844 rs6892782 PA28489 GABRA1 NC_000005.10:161842777 1 0 0 0 0 56770940, NG_011548.1:g.587=, NG_011548.1:g.587T>A, 6892782, NC_000005.9:g.161269783=, rs6892782, NG_011548.1:g.587T>C, NC_000005.10:g.161842777T>C, NC_000005.10:g.161842777T>A, NC_000005.9:g.161269783T>C, NC_000005.9:g.161269783T>A, NC_000005.10:g.161842777=, rs56770940 +PA166159078 rs6894567 PA29785 IL12B NC_000005.10:159329960 1 0 0 0 0 NG_009618.1:g.5514=, 6894567, rs6894567, NG_009618.1:g.5514T>C, NC_000005.9:g.158756968=, NC_000005.9:g.158756968A>G, NC_000005.10:g.159329960=, 59002853, NC_000005.10:g.159329960A>G +PA166153585 rs689466 PA293 PTGS2 NC_000001.11:186681619 1 0 0 0 0 NG_028206.2:g.3809A>C, NG_028206.2:g.3809A>G, 689466, NC_000001.10:g.186650751=, NM_000963.3:c.-1329A>G, 60090372, rs57021644, NC_000001.11:g.186681619=, NC_000001.11:g.186681619T>G, NC_000001.10:g.186650751T>G, NC_000001.11:g.186681619T>C, rs689466, NG_028206.2:g.3809=, 57021644, NC_000001.10:g.186650751T>C, rs60090372, NR_125801.1:n.966T>C +PA166156845 rs6897932 PA29840 IL7R NC_000005.10:35874473 2 0 0 0 0 NM_002185.2:c.731C>T, NC_000005.9:g.35874575C>A, NG_009567.1:g.22585C>T, NG_009567.1:g.22585=, 6897932, XM_005248300.1:c.706+825C>T, NR_120485.1:n.641-1039C>T, NC_000005.10:g.35874473C>T, 57894527, rs6897932, NC_000005.9:g.35874575C>T, XM_005248299.1:c.706+825C>T, XM_011514037.1:c.731C>T, NP_002176.2:p.Thr244Asn, XM_005248299.2:c.706+825C>T, NG_009567.1:g.22585C>A, XP_011512339.1:p.Thr244Ile, NC_000005.10:g.35874473=, NP_002176.2:p.Thr244=, NP_002176.2:p.Thr244Ile, NC_000005.10:g.35874473C>A, rs57894527, NC_000005.9:g.35874575=, NM_002185.3:c.731C>T +PA166157712 rs689979 PA134961240 ERCC6L2 NC_000009.12:95956391 1 0 0 0 0 XM_011518644.1:c.1086+378T>C, NC_000009.11:g.98718673T>C, XM_011518646.1:c.1980+378T>C, NC_000009.11:g.98718673=, XR_929787.1:n.2368+378T>C, NC_000009.11:g.98718673T>G, XM_011518641.1:c.1980+378T>C, XM_011518650.1:c.-348+378T>C, rs689979, 689979, XM_011518649.1:c.27+378T>C, XM_011518643.1:c.1980+378T>C, NG_034107.1:g.85774T>G, NM_020207.4:c.1980+378T>C, NG_034107.1:g.85774T>C, NM_001010895.2:c.1980+378T>C, NC_000009.12:g.95956391=, XR_929789.1:n.2563+378T>C, XM_011518642.1:c.1353+378T>C, XM_011518645.1:c.1980+378T>C, NG_034107.1:g.85774=, XR_929788.1:n.2368+378T>C, XM_011518647.1:c.1980+378T>C, 2138103, rs2138103, NC_000009.12:g.95956391T>G, NC_000009.12:g.95956391T>C, XM_011518651.1:c.1980+378T>C, XM_011518648.1:c.315+378T>C +PA166157110 rs6900017 PA37302 VEGFA NC_000006.12:43790748 1 1 0 0 0 NC_000006.11:g.43758485C>T, NC_000006.12:g.43790748=, rs6900017, 58250555, 6900017, NC_000006.11:g.43758485=, NC_000006.12:g.43790748C>T, rs58250555 +PA166184675 rs6900805 NC_000006.12:153966897 1 0 0 0 0 NC_000006.11:g.154288032G>A, 6900805, NC_000006.11:g.154288032=, NC_000006.11:g.154288032G>C, NC_000006.11:g.154288032G>T, NC_000006.12:g.153966897=, NC_000006.12:g.153966897G>T, rs6900805, NC_000006.12:g.153966897G>C, 57007544, NC_000006.12:g.153966897G>A, 17824934 +PA166157111 rs6901146 NC_000006.12:52580583 1 1 0 0 0 NR_103447.1:n.933+974T>C, rs60184696, NC_000006.12:g.52580583=, NR_103446.1:n.1427+974T>C, NC_000006.12:g.52580583T>A, NC_000006.11:g.52445381T>G, NC_000006.12:g.52580583T>C, NC_000006.11:g.52445381T>A, 60184696, NC_000006.11:g.52445381T>C, rs6901146, 6901146, NC_000006.12:g.52580583T>G, NC_000006.11:g.52445381= +PA166182131 rs6902403 PA164721033,PA31945 IPCEF1,OPRM1 NC_000006.12:154157868 1 0 0 0 0 rs6902403, 6902403, NG_021208.2:g.152368=, NC_000006.11:g.154479003T>C, 57571349, NC_000006.12:g.154157868T>C, NC_000006.11:g.154479003=, NC_000006.12:g.154157868=, NG_021208.2:g.152368T>C +PA166157112 rs6907567 PA134911502 SLC22A16 NC_000006.12:110456759 3 1 0 0 0 XM_011536204.1:c.183T>C, XM_011536205.1:c.312T>C, NM_033125.3:c.312T>C, XM_011536209.1:c.128+141T>C, XM_011536208.1:c.143+141T>C, NC_000006.12:g.110456759A>G, XM_011536207.1:c.179+141T>C, NP_149116.2:p.Asn104=, XM_005267185.1:c.-151T>C, XM_011536212.1:c.-261T>C, XP_011534506.1:p.Asn61=, XM_011536210.1:c.312T>C, XM_011536211.1:c.171+141T>C, XP_011534507.1:p.Asn104=, NC_000006.11:g.110777962=, NC_000006.11:g.110777962A>G, XM_011536206.1:c.171+141T>C, XM_005267183.1:c.216T>C, rs6907567, XP_005267240.1:p.Asn72=, NC_000006.12:g.110456759=, XM_005267184.1:c.23+141T>C, XP_011534512.1:p.Asn104=, XM_005267184.2:c.23+141T>C, 6907567 +PA166161859 rs6908425 PA134871999 CDKAL1 NC_000006.12:20728500 1 1 0 0 0 NC_000006.12:g.20728500T>G, NC_000006.11:g.20728731T>A, NC_000006.12:g.20728500=, NC_000006.12:g.20728500T>C, NG_021195.1:g.199044T>G, 60110599, NG_021195.1:g.199044T>C, NG_021195.2:g.199044T>A, NG_021195.1:g.199044T>A, NG_021195.2:g.199044T>C, NG_021195.2:g.199044=, NG_021195.1:g.199044=, NG_021195.2:g.199044T>G, rs6908425, NC_000006.11:g.20728731T>G, NC_000006.11:g.20728731=, NC_000006.12:g.20728500T>A, NC_000006.11:g.20728731T>C, 6908425 +PA166177786 rs6912029 PA31945 OPRM1 NC_000006.12:154039373 7 1 0 0 0 17181010, NC_000006.12:g.154039373G>T, NC_000006.11:g.154360508=, NG_021208.2:g.33873=, NG_021208.2:g.33873G>T, NC_000006.11:g.154360508G>T, NC_000006.12:g.154039373=, rs6912029, 6912029, 58366704 +PA166157113 rs6917661 PA134880153 CNKSR3 NC_000006.12:154400423 1 0 0 0 0 NC_000006.12:g.154400423C>T, NC_000006.11:g.154721557C>G, NC_000006.11:g.154721557C>T, NC_000006.12:g.154400423=, rs6917661, NC_000006.12:g.154400423C>G, NC_000006.11:g.154721557=, 6917661, 59380373, rs59380373 +PA166157114 rs6920220 PA35733,PA36593 SH3BP2,TNFAIP3 NC_000006.12:137685367 4 2 0 0 0 rs6920220, NC_000006.11:g.138006504=, 6920220, NC_000006.11:g.138006504G>A, rs57269942, 58273351, 56495515, rs17264367, rs56495515, NC_000006.12:g.137685367G>A, NC_000006.12:g.137685367=, 17264367, rs58273351, 57269942 +PA166157115 rs6921269 PA356 TPMT NC_000006.12:18133847 4 1 1 0 0 NC_000006.11:g.18134078=, NC_000006.11:g.18134078C>A, NP_000358.1:p.Gln179=, XP_011513141.1:p.Gln179His, XP_011513142.1:p.Gln156His, XM_011514839.1:c.537G>T, NG_012137.2:g.26297G>T, XM_011514840.1:c.468G>T, NM_000367.3:c.537G>T, NG_012137.2:g.26297=, NC_000006.12:g.18133847=, NP_000358.1:p.Gln179His, rs6921269, NC_000006.12:g.18133847C>A, 6921269 +PA166157116 rs6922548 PA33557 PPARD NC_000006.12:35385746 1 1 0 0 0 XM_011514710.1:c.-101-25241A>G, XM_011514713.1:c.-101-25241A>G, XM_006715121.1:c.-101-25241A>G, XM_011514709.1:c.-197-11752A>G, NG_012345.1:g.48189=, NM_001171818.1:c.-197-11752A>G, XM_011514708.1:c.-101-25241A>G, NC_000006.11:g.35353523A>G, NG_012345.2:g.48189A>G, XM_006715120.1:c.-101-25241A>G, XM_006715123.1:c.-101-25241A>G, XM_011514712.1:c.-101-25241A>G, NC_000006.11:g.35353523=, NM_001171819.1:c.14-34381A>G, NC_000006.12:g.35385746=, NM_006238.4:c.-101-25241A>G, NM_177435.2:c.-101-25241A>G, NG_012345.1:g.48189A>G, XM_005249191.1:c.-101-25241A>G, XM_011514707.1:c.-101-25241A>G, NC_000006.12:g.35385746A>G, XM_005249194.1:c.-101-25241A>G, XM_005249193.1:c.-101-25241A>G, XM_005249192.1:c.-197-11752A>G, rs6922548, 6922548, NG_012345.2:g.48189=, XM_011514711.1:c.-101-25241A>G, NM_001171820.1:c.-101-25241A>G +PA166157117 rs6923761 PA28725 GLP1R NC_000006.12:39066296 6 2 0 0 0 rs6923761, NC_000006.11:g.39034072G>A, NP_002053.3:p.Gly168Ser, NC_000006.11:g.39034072=, 17339269, XR_926155.1:n.562G>A, 6923761, XR_926153.1:n.562G>A, 60911077, NP_002053.3:p.Gly168=, XR_241889.1:n.562G>A, NC_000006.12:g.39066296=, 52795843, NC_000006.11:g.39034072G>C, rs17339269, rs60911077, NC_000006.12:g.39066296G>A, XR_241888.1:n.562G>A, XR_926154.1:n.562G>A, NP_002053.3:p.Gly168Arg, NM_002062.3:c.502G>A, rs52795843, NC_000006.12:g.39066296G>C +PA166157118 rs6924995 NC_000006.12:16161194 1 1 0 0 0 rs6924995, NC_000006.11:g.16161425=, rs59613901, NG_009456.1:g.361A>G, NC_000006.12:g.16161194A>G, NG_009456.1:g.361A>C, NC_000006.11:g.16161425A>G, 59613901, NC_000006.11:g.16161425A>C, NC_000006.12:g.16161194=, NC_000006.12:g.16161194A>C, 6924995, NG_009456.1:g.361= +PA166157119 rs6927172 PA36593 TNFAIP3 NC_000006.12:137681038 1 1 0 0 0 rs17264164, NC_000006.12:g.137681038=, NC_000006.12:g.137681038C>G, NC_000006.11:g.138002175C>T, NC_000006.12:g.137681038C>T, NC_000006.11:g.138002175C>G, 17264164, NC_000006.11:g.138002175=, 6927172, rs6927172, NC_000006.11:g.138002175C>A, NC_000006.12:g.137681038C>A +PA166185485 rs692780 PA26491 CHRNA5 NC_000015.10:78584163 2 0 0 0 0 692780, NC_000015.9:g.78876505=, NG_023328.1:g.23644C>T, NC_000015.9:g.78876505C>T, NG_023328.1:g.23644=, 17408129, 60639740, NC_000015.9:g.78876505C>G, NC_000015.10:g.78584163C>T, NG_023328.1:g.23644C>G, rs692780, NC_000015.10:g.78584163=, NC_000015.10:g.78584163C>G +PA166156028 rs6928 PA30616 MAPK1 NC_000022.11:21760715 1 0 0 0 0 NC_000022.10:g.22115004=, rs3203496, 3203496, rs56630814, NC_000022.11:g.21760715C>G, 17821393, NC_000022.11:g.21760715C>A, NG_023054.2:g.111966G>C, 6928, 56630814, NC_000022.10:g.22115004C>A, NG_023054.2:g.111966=, rs17821393, NC_000022.10:g.22115004C>G, rs60842663, NC_000022.11:g.21760715=, 60842663, NG_023054.2:g.111966G>T, rs6928, NM_002745.4:c.*3535G>C +PA166184035 rs6928499 PA26681 CNR1 NC_000006.12:88151570 3 1 0 0 0 9450897, NC_000006.12:g.88151570=, 6928499, NC_000006.12:g.88151570G>C, rs6928499, NC_000006.11:g.88861289=, NC_000006.11:g.88861289G>C +PA166179287 rs6929249 NC_000006.12:44235246 1 1 0 0 0 NC_000006.12:g.44235246A>G, NG_042893.1:g.20742A>G, 6929249, NC_000006.12:g.44235246=, NG_042893.1:g.20742=, NC_000006.11:g.44202983A>G, NC_000006.11:g.44202983=, rs6929249, 59659679 +PA166197901 rs693 PA50 APOB NC_000002.12:21009323 1 0 0 0 0 116881824, 59544654, 3181458, NC_000002.12:g.21009323G>A, NC_000002.11:g.21232195G>A, NG_011793.1:g.39751C>T, 693, rs693, NC_000002.11:g.21232195=, NG_011793.1:g.39751=, NC_000002.12:g.21009323=, 17247263, NP_000375.3:p.Thr2515=, 17398433, 386606006 +PA166157120 rs6932373 NC_000006.12:121469844 1 0 0 0 0 rs59093073, NC_000006.11:g.121790990=, 59093073, NC_000006.11:g.121790990A>G, NC_000006.12:g.121469844A>G, NC_000006.12:g.121469844A>T, rs6932373, 6932373, NC_000006.11:g.121790990A>T, NC_000006.12:g.121469844= +PA166185803 rs6935207 PA329 SLC22A1 NC_000006.12:160120141 5 0 0 0 0 59178253, NC_000006.11:g.160541173G>T, 9365134, NC_000006.11:g.160541173G>C, 6935207, NC_000006.12:g.160120141G>A, NC_000006.11:g.160541173=, NC_000006.11:g.160541173G>A, NC_000006.12:g.160120141=, NC_000006.12:g.160120141G>C, rs6935207, NC_000006.12:g.160120141G>T +PA166183887 rs694066 PA28529 GAL NC_000011.10:68685517 1 1 0 0 0 rs694066, NC_000011.9:g.68452985G>A, NG_052785.1:g.6043G>A, NC_000011.10:g.68685517=, NC_000011.10:g.68685517G>A, NC_000011.9:g.68452985=, 694066, NG_052785.1:g.6043= +PA166155583 rs6941 PA37425 XRCC5 NC_000002.12:216205929 1 0 0 0 0 NC_000002.11:g.217070652C>A, 58334615, NC_000002.11:g.217070652=, NC_000002.12:g.216205929=, NC_000002.12:g.216205929C>A, 3192168, rs3192168, NM_021141.3:c.*727C>A, XM_005246836.1:c.*727C>A, rs58334615, NG_029780.1:g.101633C>A, NG_029780.1:g.101633=, rs6941, 6941 +PA166171035 rs6942227 NC_000006.12:25177280 1 1 0 0 0 NC_000006.11:g.25177508=, NC_000006.12:g.25177280=, NC_000006.12:g.25177280A>G, NC_000006.11:g.25177508A>G, rs6942227, 6942227 +PA166203415 rs6942381 PA30605 TAB2 NC_000006.12:149341855 1 0 0 0 0 6942381, NC_000006.11:g.149662991G>T, rs6942381, NC_000006.11:g.149662991G>C, NG_021386.2:g.128932=, NC_000006.12:g.149341855G>T, NC_000006.12:g.149341855=, NC_000006.12:g.149341855G>C, NG_021386.2:g.128932G>T, NG_021386.2:g.128932G>C, NC_000006.11:g.149662991= +PA166157414 rs6942609 PA20 ACHE NC_000007.14:101252199 1 0 0 0 0 NC_000007.13:g.100895480G>C, NC_000007.14:g.101252199G>A, rs6942609, NC_000007.13:g.100895480G>A, NC_000007.13:g.100895480=, rs60593497, NC_000007.14:g.101252199=, 6942609, 60593497, NC_000007.14:g.101252199G>C +PA166157415 rs6946062 PA31802 NT5C3A NC_000007.14:33043495 1 0 0 0 0 NC_000007.13:g.33083107T>C, NM_001002010.2:c.154-16580A>G, NC_000007.14:g.33043495=, 58957921, NM_001002009.2:c.-19-7507A>G, NC_000007.14:g.33043495T>C, NC_000007.13:g.33083107=, rs6946062, 6946062, NG_015800.1:g.24303=, XM_011515409.1:c.-2760A>G, rs11486834, 11486834, NG_015800.1:g.24303A>G, rs58957921 +PA166157416 rs6946119 NC_000007.14:87499549 1 0 0 0 0 NC_000007.13:g.87128865T>C, 57742520, rs57742520, rs6946119, NC_000007.13:g.87128865=, NC_000007.14:g.87499549T>C, 6946119, NC_000007.14:g.87499549= +PA166157417 rs6947309 PA134873425 LUC7L2 NC_000007.14:139351084 1 0 0 0 0 61171529, NC_000007.14:g.139351084C>T, NC_000007.14:g.139351084=, NM_001244585.1:c.-26+10567C>T, rs61171529, NG_030012.1:g.15706C>T, NG_030012.1:g.15706=, NC_000007.13:g.139035830=, NM_001244584.2:c.259+5463C>T, NC_000007.13:g.139035830C>T, 6947309, rs6947309 +PA166157418 rs6947784 PA28992 GRM3 NC_000007.14:86766240 1 0 0 0 0 NM_000840.2:c.468+627G>C, NC_000007.14:g.86766240G>C, XM_011516088.1:c.468+627G>C, 6947784, rs6947784, XM_005250286.1:c.468+627G>C, XM_011516089.1:c.468+627G>C, 59159779, XM_005250288.1:c.468+627G>C, XM_005250290.1:c.468+627G>C, NC_000007.13:g.86395556=, XM_005250289.1:c.101-72599G>C, NC_000007.13:g.86395556G>C, NC_000007.14:g.86766240=, XM_011516090.1:c.468+627G>C, XM_005250287.1:c.85-20021G>C, rs59159779 +PA166183845 rs6949448 PA267 ABCB1 NC_000007.14:87512498 1 0 0 0 0 rs6949448, NG_011513.1:g.205751=, NC_000007.14:g.87512498=, NC_000007.14:g.87512498T>G, NG_011513.1:g.205751A>T, 10488633, NC_000007.13:g.87141814T>C, NC_000007.14:g.87512498T>A, NC_000007.13:g.87141814T>A, 17275918, 59116088, NC_000007.13:g.87141814=, NC_000007.14:g.87512498T>C, NC_000007.13:g.87141814T>G, NG_011513.1:g.205751A>G, 6949448, NG_011513.1:g.205751A>C +PA166157419 rs6949799 PA134887081 COL26A1 NC_000007.14:101424245 1 0 0 0 0 rs6949799, rs60777238, 6949799, 9648924, NC_000007.14:g.101424245C>T, 10376699, NG_033785.2:g.66426=, NM_001278563.2:c.281+4146C>T, NM_133457.4:c.281+4146C>T, NG_033785.2:g.66426C>T, NC_000007.13:g.101067526C>T, NC_000007.14:g.101424245=, rs9648924, rs10376699, NC_000007.13:g.101067526=, 60777238 +PA166160132 rs6956039 PA38657 GLCCI1 NC_000007.14:8077868 1 0 0 0 0 NC_000007.14:g.8077868T>G, NG_032073.1:g.114125=, NG_032073.1:g.114125T>G, rs6956039, 6956039, NC_000007.13:g.8117498=, NC_000007.14:g.8077868=, NC_000007.13:g.8117498T>G +PA166157420 rs6956344 PA130 CYP3A4 NC_000007.14:99761528 1 0 0 0 0 NC_000007.14:g.99761528=, NM_017460.5:c.1253+513G>A, NC_000007.13:g.99359151C>T, NC_000007.14:g.99761528C>T, NC_000007.13:g.99359151=, XM_011515841.1:c.1346+248G>A, rs6956344, 6956344, NM_001202855.2:c.1250+513G>A, XM_011515842.1:c.1343+248G>A, NG_008421.1:g.27658=, NG_008421.1:g.27658G>A +PA166159900 rs696 PA31601 NFKBIA NC_000014.9:35401887 3 1 0 0 0 NC_000014.9:g.35401887=, NC_000014.8:g.35871093C>G, 11569609, NG_007571.1:g.7852G>C, rs696, 57898959, NG_007571.1:g.7852G>A, NC_000014.9:g.35401887C>T, NC_000014.8:g.35871093=, NG_007571.1:g.7852=, 696, NC_000014.9:g.35401887C>G, 3168894, 16989, NC_000014.8:g.35871093C>T +PA166157421 rs6960542 NC_000007.14:99985596 1 0 0 0 0 NC_000007.13:g.99583219C>A, NC_000007.14:g.99985596=, rs59705549, NC_000007.14:g.99985596C>A, rs59390909, NC_000007.14:g.99985596C>G, rs6960542, 6960542, NC_000007.13:g.99583219C>T, NC_000007.13:g.99583219=, NC_000007.13:g.99583219C>G, 59705549, NC_000007.14:g.99985596C>T, 59390909 +PA166180184 rs6961071 NC_000007.14:156182007 1 1 0 0 0 NC_000007.14:g.156182007=, NC_000007.13:g.155974701A>G, NC_000007.13:g.155974701=, 60728988, 6961071, 9638160, NC_000007.14:g.156182007A>G, 10373462, rs6961071, NC_000007.13:g.155974701A>T, NC_000007.14:g.156182007A>T +PA166181266 rs6961419 PA267 ABCB1 NC_000007.14:87542820 1 0 0 0 0 NC_000007.13:g.87172136=, rs6961419, NG_011513.1:g.175429A>G, 6961419, 10384971, NC_000007.14:g.87542820T>C, NC_000007.14:g.87542820=, NC_000007.13:g.87172136T>C, NG_011513.1:g.175429= +PA166181267 rs6961665 PA267 ABCB1 NC_000007.14:87552102 1 0 0 0 0 rs6961665, 6961665, NC_000007.13:g.87181418=, NC_000007.13:g.87181418C>A, NC_000007.14:g.87552102=, NC_000007.14:g.87552102C>A, NG_011513.1:g.166147=, NG_011513.1:g.166147G>T +PA166157422 rs6962027 PA111 CHRM2 NC_000007.14:137017188 2 0 0 0 0 XM_011515770.1:c.*922T>A, NC_000007.14:g.137017188T>G, XM_011515771.1:c.*922T>A, NC_000007.14:g.137017188T>A, NM_000739.2:c.*922T>A, rs10385443, NR_046103.1:n.341+15606A>T, NM_001006628.1:c.*922T>A, NM_001006629.1:c.*922T>A, NG_011846.2:g.153537=, NM_001006626.1:c.*922T>A, NM_001006627.1:c.*922T>A, 52835773, 10385443, NG_011846.2:g.153537T>A, NM_001006632.1:c.*922T>A, NC_000007.13:g.136701935T>G, NM_001006631.1:c.*922T>A, rs17500327, NC_000007.13:g.136701935=, NG_011846.2:g.153537T>G, NC_000007.13:g.136701935T>A, rs52835773, NC_000007.14:g.137017188=, XM_011515769.1:c.*922T>A, rs6962027, 6962027, 17500327, NM_001006630.1:c.*922T>A, XM_005250130.1:c.*922T>A +PA166157423 rs6962291 PA349 TBXAS1 NC_000007.14:139971318 3 1 0 0 0 NG_008422.2:g.197937T>A, NM_001061.4:c.1137+9085T>A, NC_000007.14:g.139971318T>A, NM_001130966.2:c.1137+9085T>A, NC_000007.13:g.139671117T>G, NG_008422.2:g.197937=, XM_011516544.1:c.1137+9085T>A, NC_000007.14:g.139971318=, NR_029394.1:n.1401+9085T>A, 59651288, 6962291, rs6962291, XR_928042.1:n.926T>A, NM_030984.3:c.1137+9085T>A, NC_000007.14:g.139971318T>G, NC_000007.13:g.139671117T>A, NM_001166254.1:c.933+9085T>A, NM_001314028.1:c.1077+9085T>A, NM_001166253.1:c.1275+9085T>A, NC_000007.13:g.139671117=, rs59651288, NG_008422.2:g.197937T>G +PA166160130 rs6964558 PA38657 GLCCI1 NC_000007.14:8077318 1 0 0 0 0 rs6964558, 6964558, 59438845, NC_000007.14:g.8077318=, NG_032073.1:g.113575G>A, NG_032073.1:g.113575=, NC_000007.14:g.8077318G>A, NC_000007.13:g.8116948=, NC_000007.13:g.8116948G>A +PA166157424 rs6966038 NC_000007.14:157087704 1 1 0 0 0 60293508, 6966038, rs6966038, NC_000007.14:g.157087704A>G, rs60293508, NC_000007.13:g.156880398=, NC_000007.14:g.157087704=, NC_000007.13:g.156880398A>G +PA166153586 rs696692 PA142672422 ERICH3 NC_000001.11:74591902 1 1 0 0 0 59181155, rs386606219, NC_000001.11:g.74591902T>C, rs1709069, rs696692, XM_011540650.1:c.161-1822A>G, 1709069, NR_121670.1:n.173+1995T>C, NR_121671.1:n.80+14393T>C, NC_000001.11:g.74591902=, rs59181155, XM_011540649.1:c.1727-1822A>G, XM_006710349.2:c.1136-1822A>G, NM_001002912.4:c.1727-1822A>G, NC_000001.10:g.75057586T>A, NC_000001.10:g.75057586T>C, 386606219, NC_000001.11:g.74591902T>A, XR_246345.1:n.277+14393T>C, NC_000001.10:g.75057586=, 696692 +PA166160145 rs6967565 NC_000007.14:8090098 1 0 0 0 0 NC_000007.13:g.8129728G>A, 58318554, NC_000007.14:g.8090098G>A, rs6967565, 6967565, NG_032073.1:g.126355=, 10486208, NG_032073.1:g.126355G>A, NC_000007.14:g.8090098=, NC_000007.13:g.8129728= +PA166157425 rs6968865 NC_000007.14:17247645 1 0 0 0 0 NC_000007.14:g.17247645A>T, 6968865, NC_000007.13:g.17287269A>T, rs6968865, NC_000007.13:g.17287269=, NC_000007.14:g.17247645= +PA166160103 rs6969971 PA38657 GLCCI1 NC_000007.14:8057991 1 0 0 0 0 NC_000007.13:g.8097621T>C, NG_032073.1:g.94248=, NG_032073.1:g.94248T>C, rs6969971, 6969971, NC_000007.13:g.8097621=, 56964466, NC_000007.14:g.8057991T>C, NC_000007.14:g.8057991= +PA166259902 rs6973474 NC_000007.14:96804 1 1 0 0 0 6973474, NC_000007.13:g.96804=, NC_000007.14:g.96804C>T, NC_000007.14:g.96804=, rs6973474, 17299776, NC_000007.13:g.96804C>T +PA166281521 rs6977165 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99671774 1 0 0 0 0 NP_001177413.1:p.Ter141Trp, NC_000007.14:g.99671774T>C, NG_007938.2:g.13225A>G, NG_007938.2:g.13225=, 6977165, NP_001177413.1:p.Ter141=, NG_007938.1:g.13225A>G, rs6977165, NC_000007.14:g.99671774=, NG_007938.1:g.13225=, NC_000007.13:g.99269397=, NC_000007.13:g.99269397T>C +PA166177731 rs6977381 PA24416 AOC1 NC_000007.14:150845558 1 0 0 0 0 NC_000007.13:g.150542646G>A, NC_000007.14:g.150845558G>A, NC_000007.13:g.150542646=, 6977381, 17258417, 57453241, NC_000007.14:g.150845558=, rs6977381 +PA166157426 rs6977820 PA27468 DPP6 NC_000007.14:154374935 1 1 0 0 0 NC_000007.14:g.154374935T>A, NC_000007.13:g.154072020T>A, NC_000007.14:g.154374935T>C, rs6977820, XM_011515865.1:c.52-71279T>C, rs57278084, 6977820, NG_033878.1:g.492602T>C, NC_000007.13:g.154072020=, NG_033878.2:g.631950=, NM_001290252.1:c.57+69384T>C, NG_033878.1:g.492602T>A, NC_000007.13:g.154072020T>C, NM_001290253.1:c.244-71279T>C, NG_033878.2:g.631950T>A, 57278084, NG_033878.2:g.631950T>C, NC_000007.14:g.154374935=, NM_130797.3:c.244-71279T>C, NM_001039350.2:c.52-71279T>C, NM_001936.4:c.57+69384T>C, NG_033878.1:g.492602= +PA166181235 rs6977967 NC_000007.14:7067005 1 0 0 0 0 rs6977967, 6977967, 9770495, NC_000007.14:g.7067005=, NC_000007.13:g.7106636=, NC_000007.14:g.7067005A>G, NC_000007.13:g.7106636A>G +PA166156476 rs698 PA24572 ADH1C NC_000004.12:99339632 4 2 0 0 0 XM_011531588.1:c.946A>G, 17855753, NP_000660.1:p.Ile350Val, rs1693473, 1693473, rs117472071, rs698, NC_000004.12:g.99339632=, NC_000004.11:g.100260789=, XP_011529891.1:p.Ile310Val, 698, NR_133005.1:n.1374A>G, rs4134508, 4134508, NG_011718.1:g.18129=, XP_011529890.1:p.Ile316Val, 56906178, NG_011718.1:g.18129A>T, rs17399447, NC_000004.12:g.99339632T>C, rs17855753, rs3182222, NC_000004.11:g.100260789T>A, rs1042758, 1042758, NP_000660.1:p.Ile350=, NP_000660.1:p.Ile350Phe, 117472071, NC_000004.11:g.100260789T>C, rs56906178, NC_000004.12:g.99339632T>A, NG_011718.1:g.18129A>G, XM_011531589.1:c.928A>G, 3182222, NM_000669.4:c.1048A>G, 17399447 +PA166233341 rs6981827 PA26947 CSMD1 NC_000008.11:3217516 1 1 0 0 0 NC_000008.10:g.3075038C>T, rs6981827, 6981827, NC_000008.11:g.3217516=, NC_000008.11:g.3217516C>T, NC_000008.10:g.3075038C>A, NC_000008.10:g.3075038=, NC_000008.11:g.3217516C>A +PA166177324 rs6983129 PA28587 GATA4 NC_000008.11:11733627 1 0 0 0 0 58261724, NG_008177.2:g.61709=, NC_000008.11:g.11733627=, NC_000008.11:g.11733627C>A, NC_000008.10:g.11591136C>A, NG_008177.2:g.61709C>A, rs6983129, 6983129, NC_000008.10:g.11591136=, 56456742 +PA166157621 rs6983267 NC_000008.11:127401060 3 1 0 0 0 rs17467153, 61163584, NC_000008.11:g.127401060G>T, NC_000008.10:g.128413305=, NR_117100.1:n.1176+19769C>A, 6983267, NC_000008.11:g.127401060=, rs6983267, NR_109834.1:n.662G>T, NC_000008.10:g.128413305G>T, rs61163584, 17467153 +PA166185233 rs6985606 PA31943 OPRK1 NC_000008.11:53248556 5 0 0 0 0 60663183, NC_000008.10:g.54161116=, NC_000008.11:g.53248556=, rs6985606, NC_000008.11:g.53248556T>A, NC_000008.10:g.54161116T>A, NC_000008.11:g.53248556T>C, NC_000008.10:g.54161116T>C, 6985606, 17357474 +PA166157622 rs6988229 PA134914705 COL22A1 NC_000008.11:138872266 1 1 0 0 0 NM_152888.2:c.658+5484G>A, XM_011516891.1:c.658+5484G>A, XM_011516883.1:c.658+5484G>A, 60236715, NC_000008.11:g.138872266C>T, NC_000008.11:g.138872266=, XM_011516885.1:c.658+5484G>A, rs6988229, 6988229, NG_054761.1:g.46822G>A, XM_011516886.1:c.571+5484G>A, XM_011516888.1:c.658+5484G>A, rs60236715, NG_054761.1:g.46822=, XM_011516884.1:c.658+5484G>A, XM_005250810.1:c.658+5484G>A, NC_000008.10:g.139884509=, NC_000008.10:g.139884509C>T +PA166153539 rs699 PA42 AGT NC_000001.11:230710048 22 5 0 0 0 NP_000020.1:p.Met268=, NG_008836.2:g.9543T>C, NG_008836.2:g.9543=, rs17856353, NG_008836.1:g.9543T>C, NM_000029.3:c.803T>C, NC_000001.11:g.230710048A>G, rs386606420, rs699, 61617185, NG_008836.1:g.9543=, 386606420, NP_000020.1:p.Met268Thr, 3182295, rs4714, NC_000001.11:g.230710048=, 699, NC_000001.10:g.230845794=, rs61617185, NC_000001.10:g.230845794A>G, rs3182295, 17856353, 4714 +PA166177314 rs6990313 PA28587 GATA4 NC_000008.11:11712527 1 0 0 0 0 NG_008177.2:g.40609G>T, NC_000008.11:g.11712527=, NC_000008.10:g.11570036G>T, rs6990313, 6990313, NG_008177.2:g.40609=, NC_000008.10:g.11570036=, 59808939, NC_000008.11:g.11712527G>T +PA166233521 rs6990851 PA26947 CSMD1 NC_000008.11:3269991 1 1 0 0 0 NC_000008.11:g.3269991A>G, NC_000008.10:g.3127513=, 6990851, NC_000008.11:g.3269991=, rs6990851, NC_000008.10:g.3127513A>G +PA166163751 rs699517 PA134897613,PA359 ENOSF1,TYMS NC_000018.10:673016 3 1 0 0 0 NC_000018.10:g.673016C>A, NG_028255.1:g.20413C>A, 699517, 56976435, NC_000018.10:g.673016=, NC_000018.10:g.673016C>T, rs699517, NG_028255.1:g.20413=, NG_028255.1:g.20413C>T, NC_000018.9:g.673016C>T, NC_000018.9:g.673016C>A, NC_000018.9:g.673016=, 3200059 +PA166155598 rs699664 PA28660 GGCX NC_000002.12:85553413 19 2 0 0 0 NP_000812.2:p.Arg325Gln, 116926260, rs699664, rs17617541, rs386606475, XM_005264259.1:c.974G>A, 386606475, XP_011531067.1:p.Arg51Gln, XP_005264316.1:p.Arg325Gln, NC_000002.12:g.85553413=, NC_000002.11:g.85780536C>T, 52835631, XM_011532765.1:c.152G>A, XM_005264259.3:c.974G>A, XP_011531066.1:p.Arg51Gln, NG_011811.2:g.13122G>A, NG_011811.2:g.13122=, NC_000002.12:g.85553413C>T, rs52835631, XM_011532764.1:c.152G>A, NP_000812.2:p.Arg325=, NP_001135741.1:p.Arg268Gln, rs116926260, NM_001142269.3:c.803G>A, XR_939677.1:n.1039G>A, NM_000821.6:c.974G>A, NC_000002.11:g.85780536=, 699664, 17617541 +PA166156937 rs699946 PA37302 VEGFA NC_000006.12:43764932 1 0 0 0 0 rs699946, NC_000006.11:g.43732669A>G, NC_000006.12:g.43764932A>G, NC_000006.12:g.43764932=, NC_000006.11:g.43732669=, 60848875, rs60848875, 699946 +PA166156938 rs699947 PA37302 VEGFA NC_000006.12:43768652 27 6 0 0 0 NM_001171625.1:c.-2595A>C, NM_001171624.1:c.-2595A>C, NM_001171627.1:c.-2595A>C, NC_000006.11:g.43736389=, NC_000006.11:g.43736389A>C, 699947, NM_001171626.1:c.-2595A>C, NM_003376.5:c.-2055A>C, 36208051, NM_001025369.2:c.-2055A>C, NG_008732.1:g.3437=, NM_001025368.2:c.-2055A>C, NM_001204384.1:c.-2595A>C, NM_001025366.2:c.-2055A>C, NM_001171628.1:c.-2595A>C, NM_001171629.1:c.-2595A>C, NG_008732.1:g.3437A>T, NM_001025367.2:c.-2055A>C, 61399354, NG_008732.1:g.3437A>C, NM_001033756.2:c.-2055A>C, rs61399354, NC_000006.11:g.43736389A>T, rs36208051, NM_001171630.1:c.-2595A>C, NC_000006.12:g.43768652A>C, NM_001025370.2:c.-2055A>C, NM_001171622.1:c.-2055A>C, NC_000006.12:g.43768652=, NM_001204385.1:c.-2055A>C, rs1310065, 1310065, rs699947, NM_001317010.1:c.-2595A>C, NC_000006.12:g.43768652A>T, NM_001171623.1:c.-2595A>C +PA166157623 rs7001034 PA28458,PA165585715 FZD3,MIR4288 NC_000008.11:28505861 1 0 0 0 0 NR_036250.1:n.-679T>C, XR_949477.1:n.708+2659A>G, 13254713, NC_000008.11:g.28505861A>G, NC_000008.11:g.28505861A>C, rs17516917, NG_029723.1:g.16657=, NC_000008.11:g.28505861=, NC_000008.10:g.28363378=, NC_000008.10:g.28363378A>G, XR_949478.1:n.708+2659A>G, NC_000008.10:g.28363378A>C, rs57466218, NC_000008.11:g.28505861A>T, XM_011544648.1:c.189+2659A>G, 57466218, 17516917, NG_029723.1:g.16657A>G, NC_000008.10:g.28363378A>T, NG_029723.1:g.16657A>C, rs7001034, 7001034, NM_017412.3:c.189+2659A>G, rs13254713, NM_145866.1:c.189+2659A>G, XR_949476.1:n.708+2659A>G, NG_029723.1:g.16657A>T +PA166154847 rs700518 PA27091 CYP19A1 NC_000015.10:51236915 2 1 0 0 0 XM_005254191.1:c.240A>G, rs17601478, NC_000015.9:g.51529112T>C, rs17853491, rs57734600, NC_000015.10:g.51236915=, rs700518, XP_005254248.1:p.Val80=, 700518, NC_000015.10:g.51236915T>C, XM_005254190.1:c.240A>G, 3190985, rs3190985, 17601478, 57734600, NP_000094.2:p.Val80=, XP_005254249.1:p.Val80=, rs386606548, rs57626569, XR_932222.1:n.99-41068T>C, NC_000015.9:g.51529112=, NM_031226.2:c.240A>G, XP_005254247.1:p.Val80=, rs3759810, 3759810, 57626569, XM_005254192.1:c.240A>G, NP_112503.1:p.Val80=, 386606548, NG_007982.1:g.106684A>G, NM_000103.3:c.240A>G, 17853491, NG_007982.1:g.106684= +PA166154848 rs700519 PA27091 CYP19A1 NC_000015.10:51215771 1 0 0 0 0 59295856, NC_000015.10:g.51215771=, NG_007982.1:g.127828=, rs700519, NC_000015.10:g.51215771G>A, rs59295856, 700519, rs3190986, NC_000015.9:g.51507968=, 3190986, XP_005254247.1:p.Arg264Cys, XM_005254190.1:c.790C>T, XM_005254191.1:c.790C>T, 28757190, NP_112503.1:p.Arg264Cys, XP_005254249.1:p.Arg205Cys, XM_005254192.1:c.613C>T, 6413417, rs6413417, NC_000015.9:g.51507968G>A, NM_031226.2:c.790C>T, NG_007982.1:g.127828C>T, NM_000103.3:c.790C>T, NP_000094.2:p.Arg264Cys, XP_005254248.1:p.Arg264Cys, XR_932222.1:n.99-62212G>A, NP_000094.2:p.Arg264=, rs28757190 +PA166156291 rs701265 PA32868 P2RY1 NC_000003.12:152836568 5 0 0 0 0 NC_000003.12:g.152836568=, 57360746, NM_002563.4:c.786A>G, NP_002554.1:p.Val262=, NG_032896.2:g.6622=, NC_000003.11:g.152554357A>G, NG_032896.2:g.6622A>G, 701265, NC_000003.12:g.152836568A>G, rs3732622, 3732622, rs57360746, rs701265, NG_032896.2:g.6622A>T, NC_000003.11:g.152554357A>T, NC_000003.11:g.152554357=, NC_000003.12:g.152836568A>T +PA166157624 rs7013278 NC_000008.11:127402647 1 0 0 0 0 NR_117100.1:n.1176+18182A>G, NC_000008.10:g.128414892T>G, 7013278, NC_000008.11:g.127402647T>G, NC_000008.11:g.127402647T>C, NC_000008.11:g.127402647=, NR_109834.1:n.2249T>C, NC_000008.10:g.128414892=, NC_000008.10:g.128414892T>C, rs7013278 +PA166157625 rs7014346 NC_000008.11:127412547 1 0 0 0 0 NC_000008.10:g.128424792A>G, NC_000008.11:g.127412547=, NC_000008.10:g.128424792A>C, 58012768, rs58012768, 56452111, NC_000008.10:g.128424792=, NR_117100.1:n.1176+8282T>C, rs7014346, 7014346, NC_000008.11:g.127412547A>C, NC_000008.11:g.127412547A>G, rs56452111 +PA166160387 rs7016778 PA31943 OPRK1 NC_000008.11:53237545 3 0 0 0 0 NC_000008.11:g.53237545=, 7016778, rs7016778, NC_000008.11:g.53237545A>T, NC_000008.10:g.54150105A>T, NC_000008.10:g.54150105=, 52811492 +PA166181040 rs701829 PA35072 HLA-DRB1 NC_000006.12:32581698 1 1 0 0 0 rs701829, NG_002432.1:g.128966T>A, NC_000006.12:g.32581698T>A, NC_000006.11:g.32549475=, 701829, 75482121, NC_000006.12:g.32581698T>G, NC_000006.11:g.32549475T>G, NC_000006.12:g.32581698T>C, NG_002392.2:g.126829C>A, 3205578, NG_029921.1:g.15829G>C, NP_002115.2:p.Met171Leu, NC_000006.12:g.32581698=, NP_002115.2:p.Met171Val, NG_002392.2:g.126829C>G, NG_002433.1:g.134028C>A, NG_002432.1:g.128966=, 2308768, NC_000006.11:g.32549475T>A, NG_029921.1:g.15829G>A, NC_000006.11:g.32549475T>C, NG_002392.2:g.126829C>T, NG_029921.1:g.15829G>T, NG_002432.1:g.128966T>G, NG_002433.1:g.134028C>G, 9269803, NG_002432.1:g.128966T>C, 17856141, NG_002433.1:g.134028C>T, 17841954, NP_002115.2:p.Met171=, 36218071 +PA166156738 rs702553 PA33130 PDE4D NC_000005.10:60440946 1 1 0 0 0 XM_011543473.1:c.-90+7691T>A, NC_000005.9:g.59736773=, XM_011543472.1:c.-90+81105T>A, rs1645254, 1645254, NG_027957.2:g.88384T>A, NC_000005.9:g.59736773A>T, 702553, rs17839382, 58761227, NC_000005.10:g.60440946A>T, rs58761227, rs702553, NM_001165899.1:c.-90+46996T>A, NG_027957.1:g.52153T>A, NC_000005.10:g.60440946=, 17839382, NG_027957.1:g.52153=, NG_027957.2:g.88384= +PA166183555 rs702764 PA31943 OPRK1 NC_000008.11:53229597 6 1 0 0 0 60267139, NC_000008.11:g.53229597=, rs702764, NC_000008.11:g.53229597T>C, NC_000008.11:g.53229597T>G, 702764, NC_000008.10:g.54142157=, NC_000008.10:g.54142157T>G, NP_000903.2:p.Ala281=, NC_000008.10:g.54142157T>C +PA166232226 rs7030238 PA28983 GRIN3A NC_000009.12:101570213 1 0 0 0 0 rs7030238, 7030238, 386441740, NC_000009.11:g.104332495A>C, NC_000009.11:g.104332495=, NC_000009.12:g.101570213A>C, 59218752, NC_000009.12:g.101570213= +PA166177132 rs7035619 PA134991964 TEX10 NC_000009.12:100309102 1 1 0 0 0 NC_000009.12:g.100309102A>T, NC_000009.11:g.103071384A>C, NC_000009.12:g.100309102A>G, NC_000009.11:g.103071384=, NC_000009.11:g.103071384A>G, rs7035619, 7035619, 58345077, NC_000009.12:g.100309102A>C, NC_000009.11:g.103071384A>T, NC_000009.12:g.100309102= +PA166157786 rs7035753 PA426 SLC28A3 NC_000009.12:84340767 1 0 0 0 0 XM_011518905.1:c.-134G>A, NC_000009.11:g.86955682C>G, XM_011518906.1:c.-45-89G>A, NC_000009.12:g.84340767=, 386606815, NR_037638.2:n.13G>A, NM_001199633.1:c.-134G>A, NC_000009.11:g.86955682C>T, 17343394, 52791876, XR_929832.1:n.-7G>A, NC_000009.12:g.84340767C>T, NC_000009.11:g.86955682=, NM_022127.2:c.-45-89G>A, XM_011518909.1:c.-134G>A, rs52791876, 7035753, XM_011518910.1:c.-134G>A, rs17343394, rs386606815, rs7035753, NC_000009.12:g.84340767C>G, XM_011518907.1:c.-97-27313G>A +PA166185751 rs7041 PA28601 GC NC_000004.12:71752617 1 1 0 0 0 rs7041, NC_000004.12:g.71752617A>C, 1047213, 60269151, NC_000004.12:g.71752617=, 222037, NC_000004.11:g.72618334A>T, 3737551, NG_012837.2:g.57904T>G, NG_012837.3:g.57904=, 52808188, 3172682, 7041, NG_012837.2:g.57904T>A, NP_000574.2:p.Asp432=, 17349198, NC_000004.12:g.71752617A>T, NP_000574.2:p.Asp432Glu, NG_012837.3:g.57904T>G, NG_012837.2:g.57904=, NC_000004.11:g.72618334=, NG_012837.3:g.57904T>A, NC_000004.11:g.72618334A>C +PA166179594 rs704212 PA396 ABCC9 NC_000012.12:21891410 2 1 0 0 0 rs704212, NC_000012.12:g.21891410C>T, NC_000012.11:g.22044344C>T, NG_012819.1:g.50285G>A, NG_054102.1:g.374C>T, 1688459, NC_000012.12:g.21891410=, NG_012819.1:g.50285=, NG_054102.1:g.374=, NC_000012.11:g.22044344=, 704212 +PA166157787 rs7043257 PA426 SLC28A3 NC_000009.12:84338759 1 0 0 0 0 XM_011518905.1:c.60+1815A>G, XR_929832.1:n.187+1815A>G, NC_000009.11:g.86953674T>C, NC_000009.11:g.86953674=, 7043257, NC_000009.12:g.84338759T>C, NC_000009.12:g.84338759=, rs59384460, rs7043257, XM_011518909.1:c.60+1815A>G, 59384460, XM_011518910.1:c.60+1815A>G, NR_037638.2:n.206+1815A>G, 17428058, NM_022127.2:c.60+1815A>G, rs17428058, NM_001199633.1:c.60+1815A>G, XM_011518906.1:c.60+1815A>G, XM_011518907.1:c.-97-25305A>G +PA166157788 rs7046653 PA134886513 MOB3B NC_000009.12:27490969 1 1 0 0 0 XM_005251580.1:c.573-35221T>C, NM_024761.4:c.-198-35221T>C, NC_000009.11:g.27490967A>G, rs59499788, NC_000009.11:g.27490967A>T, 7046653, 59499788, NC_000009.12:g.27490969=, NC_000009.12:g.27490969A>T, rs7046653, NC_000009.12:g.27490969A>G, NC_000009.11:g.27490967= +PA166157886 rs7051085 PA134942420 PTCHD1 NC_000023.11:23356860 1 0 0 0 0 NC_000023.10:g.23374977=, NC_000023.10:g.23374977A>T, rs58647928, XM_011545449.1:c.351+21634A>T, rs7051085, NC_000023.11:g.23356860A>T, 7051085, NG_021300.1:g.26993A>T, NC_000023.11:g.23356860=, NG_021300.1:g.26993=, NM_173495.2:c.351+21634A>T, 58647928 +PA166157261 rs705379 PA33529 PON1 NC_000007.14:95324583 4 2 0 0 0 NC_000007.14:g.95324583G>T, NG_008779.2:g.5124C>T, rs11567858, NC_000007.13:g.94953895G>T, NG_008779.1:g.4990C>T, rs58244060, NM_000446.5:c.-108C>T, NC_000007.14:g.95324583=, 11567858, 705379, rs705379, NC_000007.14:g.95324583G>C, NC_000007.13:g.94953895G>A, NC_000007.14:g.95324583G>A, NG_008779.2:g.5124C>A, NC_000007.13:g.94953895G>C, NG_008779.2:g.5124=, 58244060, NC_000007.13:g.94953895=, NG_008779.2:g.5124C>G +PA166156939 rs706895 PA28454 FYN NC_000006.12:111720156 1 0 0 0 0 17774965, NC_000006.11:g.112041359=, 59217967, XM_011535664.1:c.-11-94A>G, NC_000006.11:g.112041359T>A, XM_005266891.1:c.-11-94A>G, rs386607120, XM_011535668.1:c.-11-94A>G, rs17515827, XM_005266887.1:c.-11-94A>G, XM_005266890.2:c.-11-94A>G, NM_153047.3:c.-105A>G, 386607120, XM_011535666.1:c.-11-94A>G, XM_005266889.1:c.-11-94A>G, NC_000006.12:g.111720156=, XM_011535665.1:c.-11-94A>G, XM_005266892.1:c.-11-94A>G, 17515827, NM_153048.3:c.-11-94A>G, XM_005266890.1:c.-11-94A>G, NC_000006.12:g.111720156T>C, NC_000006.12:g.111720156T>A, XM_005266892.2:c.-11-94A>G, XM_011535662.1:c.-11-94A>G, 706895, 1794800, rs706895, XM_011535663.1:c.-11-94A>G, NC_000006.11:g.112041359T>C, 56469929, rs59217967, NM_002037.5:c.-11-94A>G, rs17774965, XM_005266888.1:c.-11-94A>G, XM_011535667.1:c.-11-94A>G, rs56469929, rs1794800 +PA166155355 rs707265 PA123 CYP2B6 NC_000019.10:41018182 2 0 0 0 0 rs28969423, NC_000019.10:g.41018182=, NG_007929.1:g.31884A>C, NC_000019.9:g.41524087A>C, 57822270, 707265, NC_000019.10:g.41018182A>G, 28969423, NC_000019.10:g.41018182A>C, NG_007929.1:g.31884=, XM_011526549.1:c.*1355A>G, NC_000019.9:g.41524087=, XM_011526548.1:c.*1355A>G, NG_007929.1:g.31884A>G, rs57822270, NM_000767.4:c.*1355A>G, XM_011526550.1:c.*1355A>G, NC_000019.9:g.41524087A>G, XM_005258571.1:c.*1355A>G, rs707265 +PA166154075 rs7076926 PA26448 CHAT NC_000010.11:49655519 1 0 0 0 0 NM_020985.3:c.1485+71C>T, rs7076926, NG_011797.1:g.51425=, NM_001142933.1:c.1593+71C>T, NM_020986.3:c.1485+71C>T, NC_000010.11:g.49655519=, NM_001142929.1:c.1485+71C>T, NM_001142934.1:c.1485+71C>T, NM_020984.3:c.1485+71C>T, NC_000010.11:g.49655519C>T, NC_000010.10:g.50863565C>T, 7076926, NG_011797.1:g.51425C>T, NC_000010.10:g.50863565=, NM_020549.4:c.1839+71C>T +PA166153556 rs7079 PA42 AGT NC_000001.11:230702585 3 1 0 0 0 NG_008836.2:g.17006=, rs17729100, 7079, NC_000001.11:g.230702585G>T, rs7079, NG_008836.1:g.17006C>A, rs3182672, 59584810, NC_000001.11:g.230702585=, NG_008836.1:g.17006=, NC_000001.10:g.230838331=, NM_000029.3:c.*556C>A, rs59584810, NG_008836.2:g.17006C>A, NC_000001.10:g.230838331G>T, 3182672, 17729100 +PA166154076 rs7080681 PA116 ABCC2 NC_000010.11:99800412 1 0 0 0 0 rs59524471, NG_011798.1:g.22707=, NP_000383.2:p.Arg353=, rs17216205, 17216205, NM_000392.4:c.1058G>A, XR_945604.1:n.1247G>A, NC_000010.10:g.101560169=, NG_011798.2:g.22815=, XM_006717630.2:c.362G>A, XP_011537593.1:p.Arg353His, NP_000383.2:p.Arg353His, NP_000383.1:p.Arg353His, XP_006717694.1:p.Arg353His, XM_005269536.1:c.1058G>A, XM_006717631.2:c.1058G>A, XP_005269593.1:p.Arg353His, 52827711, rs52827711, XM_011539291.1:c.1058G>A, XP_006717693.1:p.Arg121His, NG_011798.1:g.22707G>A, 59524471, XR_945605.1:n.1249G>A, 7080681, NC_000010.11:g.99800412=, rs7080681, NC_000010.11:g.99800412G>A, NG_011798.2:g.22815G>A, NC_000010.10:g.101560169G>A +PA166282041 rs7081864 NC_000010.11:51930571 1 0 0 0 0 NC_000010.10:g.53690331G>A, NC_000010.11:g.51930571G>A, NC_000010.10:g.53690331G>T, NC_000010.11:g.51930571G>T, 59230724, NC_000010.11:g.51930571=, NG_029982.1:g.944421G>A, NC_000010.10:g.53690331=, NG_029982.1:g.944421G>T, rs7081864, 7081864, NG_029982.1:g.944421= +PA166154993 rs708272 PA108 CETP NC_000016.10:56962376 15 6 0 0 0 rs17290342, rs708272, 17237904, XM_006721124.2:c.118+279G>A, NC_000016.10:g.56962376G>C, NC_000016.9:g.56996288=, rs57207652, NC_000016.10:g.56962376G>A, NM_000078.2:c.118+279G>A, XM_005255776.1:c.118+279G>A, 17290342, rs17237904, NC_000016.9:g.56996288G>A, 708272, NC_000016.9:g.56996288G>C, 57207652, NG_008952.1:g.5454=, NG_008952.1:g.5454G>C, NG_008952.1:g.5454G>A, NM_001286085.1:c.118+279G>A, NC_000016.10:g.56962376= +PA166154078 rs7089580 PA126 CYP2C9 NC_000010.11:94945466 5 1 0 0 0 NG_008385.1:g.11809A>T, 58626010, NG_008385.2:g.12309=, NC_000010.10:g.96705223=, NC_000010.11:g.94945466=, NG_008385.2:g.12309A>G, NC_000010.10:g.96705223A>G, rs111172059, NC_000010.11:g.94945466A>T, NC_000010.11:g.94945466A>G, NG_008385.1:g.11809=, rs58626010, NC_000010.10:g.96705223A>T, 111172059, NM_000771.3:c.482-2313A>T, 7089580, rs7089580, XM_005269575.1:c.482-2313A>T, NG_008385.2:g.12309A>T, NG_008385.1:g.11809A>G +PA166156907 rs70914 PA154 SLC29A1 NC_000006.12:44226264 2 0 0 0 0 rs490237, NM_001304466.1:c.25-999G>A, NG_042893.1:g.11760=, NM_001304462.1:c.187-999G>A, NM_001304465.1:c.25-996G>A, NM_001304463.1:c.76-999G>A, XM_005248881.3:c.-827G>A, rs731781, NM_004955.2:c.-51-999G>A, NM_001078174.1:c.-54-996G>A, NM_001078176.2:c.-51-999G>A, XM_005248877.1:c.76-999G>A, rs699931, NM_001078175.2:c.-52+97G>A, XM_011514341.1:c.187-996G>A, XM_005248879.1:c.-52+97G>A, NG_042893.1:g.11760G>A, XM_005248879.3:c.-52+97G>A, 490237, 699931, rs70914, NC_000006.12:g.44226264G>A, XM_005248880.3:c.-55+97G>A, NC_000006.11:g.44194001G>A, XM_005248875.1:c.187-999G>A, NC_000006.11:g.44194001=, XM_005248876.3:c.76-996G>A, XM_005248876.1:c.76-996G>A, NM_001078177.1:c.-55+97G>A, NC_000006.12:g.44226264=, XM_005248878.1:c.-52+97G>A, XM_005248882.1:c.-830G>A, XM_005248878.3:c.-52+97G>A, XM_005248882.3:c.-830G>A, XM_005248881.1:c.-827G>A, 731781, XM_005248880.1:c.-55+97G>A, 70914 +PA166156292 rs709149 PA281 PPARG NC_000003.12:12408855 1 0 0 0 0 XM_011533843.1:c.819+2774G>A, NM_138712.3:c.735+2774G>A, 3773355, rs1699336, rs3773355, 1699336, 117451483, NG_011749.1:g.126006G>T, NC_000003.12:g.12408855G>T, NG_011749.1:g.126006=, rs56885526, NC_000003.11:g.12450354=, XM_011533840.1:c.735+2774G>A, XM_011533842.1:c.819+2774G>A, NM_015869.4:c.819+2774G>A, NC_000003.11:g.12450354G>A, NM_138711.3:c.735+2774G>A, rs117451483, 56885526, 709149, NC_000003.12:g.12408855=, NM_005037.5:c.735+2774G>A, XM_011533844.1:c.735+2774G>A, XM_011533841.1:c.735+2774G>A, NC_000003.12:g.12408855G>A, rs709149, NG_011749.1:g.126006G>A, NC_000003.11:g.12450354G>T +PA166154079 rs7091672 PA27699 EIF3A NC_000010.11:118836909 1 1 0 0 0 NC_000010.10:g.120596421=, 57277727, rs7091672, NC_000010.11:g.118836909T>G, NC_000010.10:g.120596421T>G, XR_946355.1:n.122+29278A>G, rs57277727, 7091672, NC_000010.11:g.118836909T>A, NC_000010.10:g.120596421T>A, NC_000010.11:g.118836909T>C, NC_000010.11:g.118836909=, NC_000010.10:g.120596421T>C +PA166154080 rs7094248 PA26448 CHAT NC_000010.11:49647322 1 0 0 0 0 NC_000010.11:g.49647322C>G, NG_011797.1:g.43228=, NM_001142929.1:c.927+648C>G, NM_020549.4:c.1281+648C>G, NM_020984.3:c.927+648C>G, NC_000010.11:g.49647322=, NM_020985.3:c.927+648C>G, NC_000010.10:g.50855368=, NC_000010.10:g.50855368C>G, rs58948516, rs17719339, 56640539, NM_001142934.1:c.927+648C>G, rs56640539, NM_020986.3:c.927+648C>G, NG_011797.1:g.43228C>G, 58948516, 7094248, 17719339, rs7094248, NM_001142933.1:c.1035+648C>G +PA166154081 rs7094421 PA26448 CHAT NC_000010.11:49655577 1 0 0 0 0 NM_020549.4:c.1839+129A>G, NC_000010.11:g.49655577=, 7094421, 17450574, rs7094421, NM_020986.3:c.1485+129A>G, NC_000010.10:g.50863623A>G, NM_020984.3:c.1485+129A>G, NM_001142933.1:c.1593+129A>G, NG_011797.1:g.51483A>G, rs17450574, rs58156562, NG_011797.1:g.51483=, NC_000010.11:g.49655577A>G, NM_001142929.1:c.1485+129A>G, NM_020985.3:c.1485+129A>G, NM_001142934.1:c.1485+129A>G, NC_000010.10:g.50863623=, 58156562 +PA166170426 rs70950385 PA123 CYP2B6 NC_000019.10:41018226_41018227 2 0 0 0 0 NC_000019.10:g.41018226_41018227=, 70950385, rs70950385, NG_007929.1:g.31928_31929=, 386809319, NG_007929.1:g.31928_31929delinsCA, NC_000019.9:g.41524131_41524132delinsCA, NC_000019.10:g.41018226_41018227delinsCA, NC_000019.9:g.41524131_41524132= +PA166156893 rs70991108 PA143,PA31134 DHFR,MSH3 NC_000005.10:80654345 7 1 0 0 0 NM_000791.3:c.86+59_86+60insACCTGGGCGGGACGCGCCA, rs147334155, NG_023304.1:g.5637_5638insACCTGGGCGGGAGGCGCCA, NC_000005.9:g.79950163_79950164insTGGCGCGTCCCGCCCAGGT, NC_000005.10:g.80654344_80654345insTCGCGCGTCCCGCCCAGGT, NC_000005.10:g.80654344_80654345insTGGCGCGTCCCGCCCAGGT, NC_000005.10:g.80654344_80654345insTGGCGCCTCCCGCCCAGGT, 147334155, NG_016607.2:g.4870_4871insTGGCGCGTCCCGCCCAGGT, NM_001290357.1:c.86+59_86+60insACCTGGGCGGGACGCGCCA, NR_110936.1:n.578+59_578+60insACCTGGGCGGGACGCGCCA, NG_016607.2:g.4870_4871insTGGCGCCTCCCGCCCAGGT, NG_016607.1:g.4870_4871insTCGCGCGTCCCGCCCAGGT, NG_023304.1:g.5637_5638=, rs70991108, NG_016607.2:g.4870_4871=, NG_016607.1:g.4870_4871insTGGCGCGTCCCGCCCAGGT, NG_016607.1:g.4870_4871=, NC_000005.10:g.80654344_80654345=, NM_002439.4:c.-384_-383insTGGCGCGTCCCGCCCAGGT, NG_016607.1:g.4870_4871insTGGCGCCTCCCGCCCAGGT, 70991108, XM_005248456.1:c.-21+59_-21+60insACCTGGGCGGGACGCGCCA, NG_023304.1:g.5637_5638insACCTGGGCGGGACGCGCCA, NG_016607.2:g.4870_4871insTCGCGCGTCCCGCCCAGGT, NC_000005.9:g.79950163_79950164insTCGCGCGTCCCGCCCAGGT, NG_023304.1:g.5637_5638insACCTGGGCGGGACGCGCGA, NC_000005.9:g.79950163_79950164insTGGCGCCTCCCGCCCAGGT, NC_000005.9:g.79950163_79950164=, XM_005248455.1:c.-313_-312insACCTGGGCGGGACGCGCCA, NM_001290354.1:c.-21+59_-21+60insACCTGGGCGGGACGCGCCA +PA166159129 rs7102569 NC_000011.10:79473855 1 0 0 0 0 NC_000011.9:g.79184899=, 57287288, NC_000011.10:g.79473855=, NC_000011.10:g.79473855A>G, rs7102569, 7102569, NC_000011.9:g.79184899A>G +PA166154418 rs7103411 PA31891,PA134953249 BDNF,BDNF-AS NC_000011.10:27678578 3 1 0 0 0 NM_170734.3:c.25-19993G>A, NG_011794.1:g.48481=, NM_001143807.1:c.-21-19993G>A, rs7103411, 7103411, NM_001143811.1:c.-421-4236G>A, NM_170731.4:c.4-19993G>A, NR_033315.1:n.743+1439C>T, NC_000011.9:g.27700125=, NM_001143809.1:c.67-19993G>A, NM_001143806.1:c.-21-19993G>A, NR_033313.1:n.586-18900C>T, NC_000011.9:g.27700125C>T, NM_001143814.1:c.-128-19652G>A, NC_000011.10:g.27678578C>T, NM_001709.4:c.-21-19993G>A, NM_170732.4:c.-21-19993G>A, NM_170733.3:c.-21-19993G>A, NM_001143810.1:c.-58-4236G>A, NG_011794.1:g.48481G>A, NM_001143805.1:c.-21-19993G>A, NM_001143813.1:c.-21-19993G>A, NC_000011.10:g.27678578=, NM_001143812.1:c.-21-19993G>A, NM_001143808.1:c.-21-19993G>A, NR_033312.1:n.1307+1439C>T +PA166180010 rs7103572 PA29556 HTR3B NC_000011.10:113919377 1 0 0 0 0 NG_011483.1:g.19511=, NG_011483.1:g.19511C>T, rs7103572, 7103572, NC_000011.9:g.113790099=, NC_000011.10:g.113919377=, NC_000011.10:g.113919377C>T, NC_000011.9:g.113790099C>T +PA166170094 rs710446 PA225 KNG1 NC_000003.12:186742138 1 1 0 0 0 NC_000003.11:g.186459927=, 710446, NP_001095886.1:p.Ile581=, NC_000003.12:g.186742138T>C, NG_016009.1:g.29830=, 1656898, NG_016009.1:g.29830T>C, NC_000003.12:g.186742138=, 52828577, 59963046, NC_000003.11:g.186459927T>C, rs710446, NP_001095886.1:p.Ile581Thr +PA166154419 rs7104613 PA36082 SPON1 NC_000011.10:14058384 1 0 0 0 0 NC_000011.10:g.14058384C>T, 60203831, NW_003871075.1:g.116468C>T, NC_000011.9:g.14079931=, rs60203831, rs7104613, 7104613, NC_000011.10:g.14058384=, NM_006108.3:c.479+16730C>T, NC_000011.9:g.14079931C>T +PA166223161 rs71103505 PA80 BDKRB2 NC_000014.9:96204871_96204897 2 0 0 0 0 140575723, NC_000014.9:g.96204871_96204879GGTGGGGAC[2], NC_000014.9:g.96204871_96204897=, NC_000014.9:g.96204871_96204879GGTGGGGAC[4], 72348790, 577937066, 398026264, 71103505, NC_000014.8:g.96671208_96671234=, NC_000014.8:g.96671208_96671216GGTGGGGAC[2], 377006580, NC_000014.8:g.96671208_96671216GGTGGGGAC[4], rs71103505 +PA166177413 rs7112513 PA32906 PAFAH1B2 NC_000011.10:117166645 1 0 0 0 0 7112513, rs7112513, 57178851, NC_000011.10:g.117166645A>G, NC_000011.9:g.117037361=, NC_000011.10:g.117166645A>T, NC_000011.9:g.117037361A>T, NC_000011.9:g.117037361A>G, NC_000011.10:g.117166645= +PA166184316 rs711355 PA36532 TJP1 NC_000015.10:29901265 1 1 0 0 0 1719018, NC_000015.10:g.29901265=, 17603235, NC_000015.9:g.30193468T>C, NC_000015.10:g.29901265T>C, NC_000015.9:g.30193468=, 711355, NC_000015.10:g.29901265T>A, rs711355, NC_000015.9:g.30193468T>A, 58585159 +PA166176644 rs7115499 PA31562 NEU3 NC_000011.10:74994557 1 0 0 0 0 NC_000011.9:g.74705602=, 58353356, 7115499, NP_006647.3:p.Arg48=, NP_006647.3:p.Arg48Gln, NC_000011.10:g.74994557G>A, NC_000011.10:g.74994557=, NC_000011.10:g.74994557G>C, NP_006647.3:p.Arg48Pro, rs7115499, NC_000011.9:g.74705602G>A, 52834289, NC_000011.9:g.74705602G>C +PA166154420 rs7118900 PA134872551 ANKK1 NC_000011.10:113396099 1 1 0 0 0 XP_011541040.1:p.Ala175Thr, NC_000011.10:g.113396099G>A, XM_011542736.1:c.745G>A, NC_000011.10:g.113396099G>C, NP_848605.1:p.Ala239Thr, XP_011541039.1:p.Ala239Thr, NM_178510.1:c.715G>A, NC_000011.9:g.113266821G>C, NP_848605.1:p.Ala239Pro, NP_848605.1:p.Ala239=, NC_000011.9:g.113266821G>A, XP_011541038.1:p.Ala249Thr, 535418425, NC_000011.9:g.113266821=, NC_000011.10:g.113396099=, NG_012976.1:g.13309=, 59912012, XM_011542738.1:c.523G>A, rs7118900, 7118900, rs535418425, rs59912012, NG_012976.1:g.13309G>C, XM_011542737.1:c.715G>A, NG_012976.1:g.13309G>A +PA166155906 rs7121 PA175 GNAS NC_000020.11:58903752 2 0 0 0 0 7121, 17829840, NG_016194.2:g.69013C>G, NM_080425.3:c.2322C>T, XM_005260399.1:c.171C>T, NP_001296790.1:p.Ile72=, 61041002, NP_001296769.1:p.Ile72=, XP_005260457.1:p.Ile57=, 3171206, NM_001309840.1:c.216C>T, NG_016194.1:g.69013C>T, XP_005260455.1:p.Ile84=, NC_000020.10:g.57478807C>G, NP_536351.1:p.Ile117=, rs3171206, NC_000020.11:g.58903752C>T, XM_005260396.1:c.336C>T, 1053389, rs7121, NP_536350.2:p.Ile774=, NC_000020.10:g.57478807C>T, NP_001070956.1:p.Ile132=, NP_001070957.1:p.Ile116=, XM_005260397.1:c.297C>T, NG_016194.2:g.69013C>T, NP_000507.1:p.Ile131=, NM_001077489.3:c.348C>T, NC_000020.10:g.57478807=, NM_001077488.3:c.396C>T, XP_005260459.1:p.Ile73=, XM_005260398.1:c.252C>T, NM_001309861.1:c.216C>T, XP_005260453.1:p.Ile112=, XP_005260458.1:p.Ile57=, NP_000507.1:p.Ile131Met, NM_000516.5:c.393C>T, XM_005260402.1:c.219C>T, 3730167, rs3730167, rs17829840, NC_000020.11:g.58903752C>G, NG_016194.1:g.69013C>G, XP_005260454.1:p.Ile99=, NG_016194.1:g.69013=, NR_003259.1:n.483C>T, NM_001077490.2:c.*254C>T, XP_005260456.1:p.Ile57=, NM_016592.3:c.*299C>T, rs1053389, XM_005260401.1:c.171C>T, NM_080426.3:c.351C>T, NG_016194.2:g.69013=, XR_244140.1:n.1443C>T, XM_005260400.1:c.171C>T, NC_000020.11:g.58903752=, rs61041002 +PA166179997 rs7122246 PA27478 DRD2 NC_000011.10:113433735 1 0 0 0 0 NC_000011.9:g.113304457G>A, NC_000011.9:g.113304457=, NG_008841.1:g.46545=, rs7122246, NC_000011.10:g.113433735=, NG_008841.1:g.46545C>T, 7122246, 57149576, NC_000011.10:g.113433735G>A +PA166154421 rs7124442 PA31891,PA134953249 BDNF,BDNF-AS NC_000011.10:27655494 2 1 0 0 0 NM_001143805.1:c.*2326A>G, NM_001143807.1:c.*2326A>G, NR_033313.1:n.306-2747C>T, XR_242809.1:n.224-3677C>T, NM_170735.5:c.*2326A=, NM_001143809.1:c.*2326A>G, NM_001143806.1:c.*2326A=, NM_001143811.1:c.*2326A>G, NM_001143813.1:c.*2326A>G, NM_001143805.1:c.*2326A=, NM_170734.3:c.*2326A>G, NC_000011.10:g.27655494=, NM_170733.3:c.*2326A=, NR_033312.1:n.306-2747C>T, NR_033315.1:n.306-2747C>T, NM_001143807.1:c.*2326A=, NM_001143808.1:c.*2326A=, NM_001143809.1:c.*2326A=, rs7124442, XR_242807.1:n.224-2744C>T, NG_011794.1:g.71564A>C, NG_011794.1:g.71564A>G, NC_000011.10:g.27655494C>T, XM_011520280.1:c.*2327G>A, NM_001143806.1:c.*2326A>G, NM_001143810.1:c.*2326A=, NC_000011.10:g.27655494C>G, NM_170731.4:c.*2326A=, NM_001143812.1:c.*2326A=, NM_001709.4:c.*2326A=, NM_001143808.1:c.*2326A>G, NM_001143811.1:c.*2326A=, NM_001143814.1:c.*2326A=, NM_001143813.1:c.*2326A=, NM_001143814.1:c.*2326A>G, XM_005253060.1:c.*2327G>A, NM_170734.3:c.*2326A=, NM_001143812.1:c.*2326A>G, NC_000011.9:g.27677041=, NM_001143810.1:c.*2326A>G, NM_170733.3:c.*2326A>G, NM_001143816.1:c.*2326A=, NM_001709.4:c.*2326A>G, NM_170731.4:c.*2326A>G, NM_170732.4:c.*2326A>G, NC_000011.9:g.27677041C>G, NR_033314.1:n.375-2747C>T, NM_001143816.1:c.*2326A>G, NG_011794.1:g.71564A=, NM_170732.4:c.*2326A=, NR_002832.2:n.375-2747C>T, 7124442, NC_000011.9:g.27677041C>T, XR_242808.1:n.224-2747C>T, NM_170735.5:c.*2326A>G +PA166280083 rs7126100 PA36195 STIM1 NC_000011.10:3896756 1 0 0 0 0 NC_000011.9:g.3917986A>T, 57930839, NC_000011.10:g.3896756A>T, NG_016277.1:g.46054=, NC_000011.9:g.3917986=, NG_016277.1:g.46054A>T, NC_000011.10:g.3896756=, rs7126100, 7126100 +PA166154422 rs7127507 PA31891,PA134953249 BDNF,BDNF-AS NC_000011.10:27693337 1 0 0 0 0 NM_001143812.1:c.-22+7339A>G, NC_000011.10:g.27693337T>C, NM_001143811.1:c.-422+7634A>G, NM_001143805.1:c.-22+27307A>G, NM_001143806.1:c.-22+27092A>G, NR_033315.1:n.744-4141T>C, NR_033312.1:n.1342+2197T>C, rs60889268, rs74233744, rs7127507, 7127507, NG_011794.1:g.33722=, NM_001143807.1:c.-22+26174A>G, NM_170732.4:c.-22+27009A>G, NM_001709.4:c.-22+6827A>G, NM_170731.4:c.3+28075A>G, NM_001143809.1:c.66+7634A>G, 74233744, NR_033313.1:n.586-4141T>C, 61439529, NC_000011.10:g.27693337=, NM_001143810.1:c.-59+7634A>G, NM_170733.3:c.-22+7960A>G, NM_001143814.1:c.-129+6827A>G, NG_011794.1:g.33722A>G, NM_170734.3:c.24+6045A>G, NM_001143808.1:c.-22+7644A>G, rs61439529, NC_000011.9:g.27714884T>C, NM_001143813.1:c.-22+6845A>G, 60889268, NC_000011.9:g.27714884= +PA166157262 rs712829 PA7360 EGFR NC_000007.14:55019062 12 7 0 0 0 NG_007726.3:g.5031G>T, 712829, rs17288931, NC_000007.14:g.55019062G>C, NC_000007.13:g.55086755=, NC_000007.13:g.55086755G>T, NG_007726.3:g.5031=, NG_007726.3:g.5031G>C, NM_201283.1:c.-216G>T, NC_000007.14:g.55019062G>T, NM_005228.3:c.-216G>T, NM_201284.1:c.-216G>T, XM_005271748.1:c.-216G>T, 17288931, NC_000007.13:g.55086755G>C, rs712829, NM_201282.1:c.-216G>T, XM_005271746.1:c.-216G>T, NC_000007.14:g.55019062= +PA166157263 rs712830 PA7360 EGFR NC_000007.14:55019087 1 1 0 0 0 17288938, NC_000007.14:g.55019087A>T, NC_000007.13:g.55086780A>G, NC_000007.13:g.55086780=, NG_007726.3:g.5056A>T, NC_000007.13:g.55086780A>C, rs712830, NC_000007.14:g.55019087A>G, NM_201282.1:c.-191A>C, XM_005271746.1:c.-191A>C, NC_000007.13:g.55086780A>T, NC_000007.14:g.55019087A>C, NC_000007.14:g.55019087=, NG_007726.3:g.5056=, NM_201283.1:c.-191A>C, NG_007726.3:g.5056A>G, XM_005271748.1:c.-191A>C, NM_005228.3:c.-191A>C, NG_007726.3:g.5056A>C, NM_201284.1:c.-191A>C, rs17288938, 712830 +PA166154423 rs7131056 PA27478 DRD2 NC_000011.10:113459052 6 0 0 0 0 NC_000011.10:g.113459052A>C, 7131056, 61227537, rs7131056, NC_000011.9:g.113329774=, XM_005271425.1:c.-32+16606T>G, NG_008841.1:g.21228T>C, rs61227537, NC_000011.10:g.113459052=, NM_016574.3:c.-32+16024T>G, NG_008841.1:g.21228T>G, NC_000011.9:g.113329774A>G, NC_000011.9:g.113329774A>C, NM_000795.3:c.-32+16024T>G, NC_000011.10:g.113459052A>G, NG_008841.1:g.21228= +PA166154424 rs7131224 NC_000011.10:24225985 1 0 0 0 0 rs7131224, NC_000011.9:g.24247531=, 7131224, 111186995, 58056067, rs111186995, NC_000011.10:g.24225985=, NC_000011.10:g.24225985T>A, NC_000011.9:g.24247531T>C, 58002303, NC_000011.10:g.24225985T>C, rs58002303, rs58056067, NC_000011.9:g.24247531T>A +PA166179996 rs7131440 PA27478 DRD2 NC_000011.10:113429188 1 0 0 0 0 7131440, NC_000011.10:g.113429188=, 56469770, NC_000011.10:g.113429188C>T, NC_000011.9:g.113299910=, NC_000011.9:g.113299910C>T, NG_008841.1:g.51092=, NG_008841.1:g.51092G>A, rs7131440 +PA166184629 rs7132846 PA32866 P2RX7 NC_000012.12:121177131 1 0 0 0 0 NG_011471.2:g.49257C>T, NC_000012.12:g.121177131C>T, NC_000012.12:g.121177131=, NC_000012.11:g.121614934=, NC_000012.11:g.121614934C>T, rs7132846, 7132846, 60767109, NG_011471.2:g.49257= +PA166155517 rs71352238 PA55,PA38274 APOE,TOMM40 NC_000019.10:44891079 1 0 0 0 0 NM_006114.2:c.-242T>C, NG_042854.1:g.4860=, NG_042854.1:g.4860T>C, XM_005258411.2:c.-245T>C, NC_000019.9:g.45394336T>C, NC_000019.9:g.45394336=, NC_000019.10:g.44891079T>C, NC_000019.10:g.44891079=, rs71352238, NM_001128917.1:c.-337T>C, NG_029149.1:g.49944T>C, XM_005258411.1:c.-245T>C, NM_001128916.1:c.-245T>C, 71352238, NG_029149.1:g.49944= +PA166159076 rs7135770 NC_000012.12:131308289 1 0 0 0 0 80235981, NC_000012.12:g.131308289=, NC_000012.11:g.131792834T>G, NC_000012.12:g.131308289T>G, NC_000012.11:g.131792834=, NC_000012.12:g.131308289T>C, NC_000012.12:g.131308289T>A, NC_000012.11:g.131792834T>A, NC_000012.11:g.131792834T>C, rs7135770, 7135770 +PA166154596 rs7136446 PA29697 IGF1 NC_000012.12:102444737 1 0 0 0 0 rs17728283, NG_011713.1:g.40864G>A, NM_001111284.1:c.173-25047G>A, NM_001111285.1:c.221-25047G>A, XR_945271.1:n.5739-17991C>T, XR_945270.1:n.6686-17991C>T, NM_000618.4:c.221-25047G>A, rs60425451, NC_000012.12:g.102444737=, XR_945275.1:n.6242-17991C>T, NC_000012.11:g.102838515=, NC_000012.11:g.102838515C>T, rs386607780, 386607780, XR_945276.1:n.6214-17991C>T, NM_001111283.2:c.221-25047G>A, XR_944536.1:n.242-25047G>A, NG_011713.1:g.40864=, rs7136446, 7136446, NC_000012.12:g.102444737C>T, XR_945277.1:n.2310-17991C>T, XR_945272.1:n.6686-11050C>T, XR_944535.1:n.257-25047G>A, NG_011713.1:g.40864G>T, XM_005268836.1:c.152-25047G>A, XM_005268835.1:c.173-25047G>A, NC_000012.11:g.102838515C>A, 17728283, 60425451, XR_944534.1:n.480-25047G>A, XR_945274.1:n.6362-17991C>T, XR_945273.1:n.6636-17991C>T, NC_000012.12:g.102444737C>A +PA166156054 rs713729 PA33760 PICK1 NC_000022.11:38059462 2 1 0 0 0 713729, NC_000022.10:g.38455469=, NC_000022.10:g.38455469T>A, XR_937962.1:n.614+117T>A, NC_000022.11:g.38059462=, NM_001039583.1:c.153+117T>A, NC_000022.11:g.38059462T>A, rs713729, XM_006724379.1:c.-165+117T>A, XM_011530517.1:c.153+117T>A, XM_006724380.1:c.-165+117T>A, NM_012407.3:c.153+117T>A, NM_001039584.1:c.153+117T>A +PA166154806 rs7141505 PA134863571,PA35926 RNF212B,SLC7A8 NC_000014.9:23183979 1 0 0 0 0 NC_000014.8:g.23653188C>A, rs58253342, rs7141505, XM_011536322.1:c.-1590C>A, 7141505, XM_011536323.1:c.-1590C>A, XM_011536324.1:c.-1590C>A, XM_011536332.1:c.-1590C>A, NC_000014.9:g.23183979C>A, XM_011536325.1:c.-1590C>A, XM_011536327.1:c.-1590C>A, XM_011536331.1:c.-1590C>A, 58253342, XM_011536330.1:c.-1590C>A, XM_011536326.1:c.-1590C>A, NM_012244.3:c.-1065G>T, XM_011536329.1:c.-1590C>A, NC_000014.9:g.23183979=, NC_000014.8:g.23653188=, XM_011536314.1:c.-1590C>A, XM_011536315.1:c.-1590C>A, XM_011536313.1:c.-1590C>A, XM_011536316.1:c.-1590C>A, NC_000014.8:g.23653188C>T, XM_011536333.1:c.-1590C>A, XR_943355.1:n.-1355C>A, XM_011536318.1:c.-1590C>A, XM_011536335.1:c.-1590C>A, XM_011536317.1:c.-1590C>A, NC_000014.9:g.23183979C>T +PA166154807 rs7142086 PA165478762 DCAF4 NC_000014.9:72924885 1 0 0 0 0 XM_005267522.3:c.-1667C>T, 60210744, XM_005267527.1:c.-1867C>T, XM_005267526.3:c.-2087C>T, XM_006720113.2:c.-2217C>T, NM_181341.2:c.-1667C>T, XM_005267523.3:c.-2053C>T, NC_000014.9:g.72924885=, NC_000014.8:g.73391593C>T, XM_005267526.1:c.-2087C>T, XM_006720114.2:c.-1667C>T, XM_005267525.3:c.-1701C>T, rs7142086, NC_000014.9:g.72924885C>T, 7142086, NM_015604.3:c.-1667C>T, NC_000014.8:g.73391593=, NG_047140.1:g.3554=, XM_005267523.1:c.-2053C>T, XM_006720115.2:c.-2251C>T, XM_005267522.1:c.-1667C>T, NM_001163509.1:c.-1701C>T, NG_047140.1:g.3554C>T, NM_181340.2:c.-1867C>T, rs60210744, XM_005267525.1:c.-1701C>T, NM_001163508.1:c.-1667C>T +PA166154808 rs7142143 PA34068 PYGL NC_000014.9:50936813 1 1 0 0 0 NM_002863.4:c.345+923A>G, NM_002863.3:c.345+923A>G, rs111177964, NC_000014.9:g.50936813T>C, NC_000014.8:g.51403531T>C, NC_000014.9:g.50936813=, NG_012796.1:g.12718=, NG_012796.1:g.12718A>G, 7142143, 57811686, 111177964, NC_000014.8:g.51403531=, rs7142143, NM_001163940.1:c.244-1628A>G, rs57811686 +PA166154809 rs7142881 PA134907818 NUBPL NC_000014.9:31624342 1 1 0 0 0 56464153, XM_011537183.1:c.382+24963G>A, XM_005268100.1:c.-2+24963G>A, 58372677, XM_011537182.1:c.-74+24963G>A, NC_000014.8:g.32093548G>A, NG_028349.1:g.67958G>A, 17481826, NC_000014.8:g.32093548=, XM_011537181.1:c.107+24963G>A, NR_120408.1:n.437+24963G>A, rs7142881, rs56464153, 7142881, NM_001201573.1:c.94+24963G>A, NG_028349.1:g.67958=, NC_000014.9:g.31624342G>A, XM_005268099.3:c.382+24963G>A, NC_000014.9:g.31624342=, XM_005268099.1:c.382+24963G>A, NM_025152.2:c.382+24963G>A, rs17481826, rs58372677 +PA166156940 rs714368 PA134911502 SLC22A16 NC_000006.12:110456925 6 2 0 0 0 XM_011536207.1:c.154A>G, 52825948, XP_011534508.1:p.His49Arg, rs714368, XP_011534507.1:p.His49Arg, XP_011534510.1:p.Ile40Val, XM_011536210.1:c.146A>G, NC_000006.11:g.110778128T>C, XM_005267184.2:c.-3A>G, XP_011534511.1:p.Ile35Val, 60832844, NC_000006.11:g.110778128=, XM_011536204.1:c.17A>G, XM_005267184.1:c.-3A>G, XM_011536209.1:c.103A>G, NP_149116.2:p.His49=, XP_011534512.1:p.His49Arg, XM_011536206.1:c.146A>G, XP_011534509.1:p.Ile52Val, NP_149116.2:p.His49Arg, XP_011534513.1:p.His49Arg, rs60832844, XM_011536205.1:c.146A>G, rs52825948, NC_000006.12:g.110456925T>C, XP_011534506.1:p.His6Arg, rs117158242, NM_033125.3:c.146A>G, XM_011536211.1:c.146A>G, XP_005267240.1:p.His49Arg, XM_005267183.1:c.146A>G, NC_000006.12:g.110456925=, XM_011536208.1:c.118A>G, XM_011536212.1:c.-427A>G, XM_005267185.1:c.-317A>G, 714368, 117158242 +PA166306561 rs7148 PA36580 TMSB10 NC_000002.12:84906092 1 0 0 0 0 NC_000002.12:g.84906092=, NC_000002.11:g.85133216=, 7148, rs7148, NC_000002.11:g.85133216G>C, 3190330, NC_000002.11:g.85133216G>A, NG_082585.1:g.274G>C, 1130909, NP_066926.1:p.Glu25Asp, NC_000002.12:g.84906092G>A, NG_082585.1:g.274G>A, NP_066926.1:p.Glu25=, NC_000002.12:g.84906092G>C, NG_082585.1:g.274=, 3177829, 17851371 +PA166154191 rs71486745 PA126 CYP2C9 NC_000010.11:94936018_94936021 3 1 0 0 0 NG_008385.2:g.2861_2862TG[1], NC_000010.10:g.96695776_96695777delGT, NC_000010.10:g.96695775_96695778=, NC_000010.10:g.96695775_96695776TG[1], 372044233, NC_000010.11:g.94936019_94936020delGT, NC_000010.11:g.94936018_94936021=, NG_008385.1:g.2362_2363delGT, rs71486745, NC_000010.11:g.94936018_94936019TG[1], NG_008385.1:g.2361_2364=, NG_008385.2:g.2861_2864=, NG_055435.1:g.1549_1550TG[1], NG_008385.1:g.2361_2362TG[1], NG_055435.1:g.1549_1552=, 71486745 +PA166154810 rs7149097 NC_000014.9:103073332 1 0 0 0 0 NC_000014.9:g.103073332A>T, rs59694000, 59694000, rs7149097, 7149097, NC_000014.9:g.103073332=, NC_000014.8:g.103539669A>G, NC_000014.8:g.103539669A>T, NC_000014.8:g.103539669=, NC_000014.9:g.103073332A>G +PA166157857 rs715171 NC_000023.11:9373808 1 0 0 0 0 NC_000023.10:g.9341848C>G, NC_000023.10:g.9341848C>T, rs61410664, 715171, NC_000023.11:g.9373808C>T, NC_000023.10:g.9341848=, rs715171, 61410664, NC_000023.11:g.9373808C>G, NC_000023.11:g.9373808= +PA166160069 rs715377 PA38657 GLCCI1 NC_000007.14:7980303 1 0 0 0 0 rs715377, NG_026533.2:g.127A>G, 60125552, NG_026533.2:g.127=, NC_000007.14:g.7980303=, NC_000007.13:g.8019934=, NC_000007.14:g.7980303A>G, NG_032073.1:g.16561=, 715377, NC_000007.13:g.8019934A>G, NG_032073.1:g.16561A>G +PA166313161 rs71542416 NC_000006.12:32598568 1 0 0 0 0 NC_000006.11:g.32566345=, NC_000006.12:g.32598568=, 71542416, rs71542416, NC_000006.12:g.32598568G>T, NC_000006.12:g.32598568G>C, NC_000006.11:g.32566345G>C, NC_000006.11:g.32566345G>T, 78126284, 146198490 +PA166303541 rs71585289 PA142672125 CEP72 NC_000005.10:642136 1 0 0 0 0 NC_000005.10:g.642136=, NC_000005.9:g.642251C>G, NC_000005.10:g.642136C>A, NC_000005.9:g.642251=, 71585289, NC_000005.10:g.642136C>G, NC_000005.9:g.642251C>A, rs71585289 +PA166154811 rs7158782 PA36400 TCL1A NC_000014.9:95702794 5 0 0 0 0 58211468, rs58211468, NC_000014.9:g.95702794A>G, NC_000014.9:g.95702794=, NC_000014.8:g.96169131A>G, NC_000014.8:g.96169131=, rs7158782, 7158782 +PA166154812 rs7159713 PA36400 TCL1A NC_000014.9:95703240 6 0 0 0 0 rs7159713, NC_000014.8:g.96169577A>G, 7159713, 59928185, NC_000014.9:g.95703240A>G, rs59928185, NC_000014.8:g.96169577=, NC_000014.9:g.95703240A>T, NC_000014.9:g.95703240=, NC_000014.8:g.96169577A>T +PA166154813 rs7160796 PA165478762 DCAF4 NC_000014.9:72927906 1 1 0 0 0 NM_001163509.1:c.-43+1363G>C, NM_001163508.1:c.-9+1363G>C, NG_047140.1:g.6575G>C, XM_006720114.2:c.-9+1363G>C, XM_005267523.3:c.-9+977G>C, NC_000014.8:g.73394614=, NM_181340.2:c.-209+1363G>C, rs7160796, 35949747, XM_005267525.1:c.-43+1363G>C, 7160796, NM_015604.3:c.-9+1363G>C, XM_005267522.3:c.-9+1363G>C, rs59450927, NC_000014.9:g.72927906=, XM_005267526.3:c.-43+977G>C, XM_005267525.3:c.-43+1363G>C, XM_005267526.1:c.-43+977G>C, XM_005267527.1:c.-209+1363G>C, XM_005267522.1:c.-9+1363G>C, NG_047140.1:g.6575=, rs35949747, 59450927, NC_000014.8:g.73394614G>C, NM_181341.2:c.-9+1363G>C, XM_006720115.2:c.-207+977G>C, XM_011536640.1:c.-1957G>C, XM_005267523.1:c.-9+977G>C, XM_006720113.2:c.-173+977G>C, NC_000014.9:g.72927906G>C +PA166154297 rs716274 PA27433 DYNC2H1 NC_000011.10:103547430 1 1 0 0 0 716274, NC_000011.9:g.103418158A>G, 56628356, 57544138, NC_000011.9:g.103418158=, rs57544138, NC_000011.10:g.103547430=, rs56628356, rs716274, NC_000011.10:g.103547430A>G +PA166184140 rs7164594 PA165478483 HYKK NC_000015.10:78510715 1 1 0 0 0 rs7164594, NC_000015.10:g.78510715=, NC_000015.9:g.78803057C>T, NC_000015.10:g.78510715C>T, NC_000015.10:g.78510715C>A, NC_000015.9:g.78803057C>A, 7164594, NC_000015.9:g.78803057= +PA166155135 rs71647871 PA107 CES1 NC_000016.10:55823658 25 7 0 0 0 XP_005276924.1:p.Gly144Glu, NP_001020366.1:p.Gly144Glu, NC_000016.10:g.55823658=, NW_003315945.1:g.47536C>T, XM_005276867.1:c.431G>A, XM_011546995.1:c.431G>A, NC_000016.9:g.55857570=, NP_001257.4:p.Gly143=, NM_001266.4:c.428G>A, NP_001020365.1:p.Gly143Glu, NC_000016.10:g.55823658C>T, NC_000016.9:g.55857570C>T, NM_001025194.1:c.428G>A, rs71647871, XP_005255831.1:p.Gly144Glu, XP_011521118.1:p.Gly144Glu, XM_011522816.1:c.431G>A, XP_011545297.1:p.Gly144Glu, NM_001025195.1:c.431G>A, NP_001257.4:p.Gly143Glu, NG_012057.1:g.14506G>A, NG_012057.1:g.14506=, 71647871, XM_005255774.1:c.431G>A +PA166156175 rs71651683 PA24584,PA165378332 ADORA2A,ADORA2A-AS1 NC_000022.11:24432885 1 0 0 0 0 NR_103546.1:n.3906-246C>T, 71651683, NG_052804.1:g.14289=, NC_000022.11:g.24432885=, NC_000022.11:g.24432885C>T, NM_001278498.1:c.-274-246C>T, NM_001278499.1:c.-274-246C>T, NR_103543.1:n.185+5139C>T, NG_052804.1:g.14289C>T, NC_000022.10:g.24828853C>T, NR_103544.1:n.165+5159C>T, NM_000675.5:c.-274-246C>T, rs71651683, NM_001278500.1:c.-274-246C>T, NR_028484.2:n.834-451G>A, NC_000022.10:g.24828853=, NM_001278497.1:c.-275+159C>T +PA166165184 rs7165938 NC_000015.10:93969692 1 0 0 0 0 NC_000015.10:g.93969692G>A, rs7165938, 7165938, 58163931, NC_000015.10:g.93969692G>T, NC_000015.9:g.94512921G>T, NC_000015.9:g.94512921=, NC_000015.9:g.94512921G>A, NC_000015.10:g.93969692=, 59418998 +PA166161119 rs7166737 PA134993567 SIN3A NC_000015.10:75390172 1 0 0 0 0 58278582, NG_052855.1:g.70612=, NC_000015.9:g.75682513A>G, NG_052855.1:g.70612T>C, rs7166737, 7166737, NC_000015.10:g.75390172A>G, NC_000015.10:g.75390172=, NC_000015.9:g.75682513= +PA166154919 rs7170068 PA113 CHRNA3 NC_000015.10:78620601 1 1 0 0 0 NM_001166694.1:c.82+112C>T, NM_000743.4:c.82+112C>T, NC_000015.10:g.78620601=, rs7170068, NC_000015.10:g.78620601G>A, NR_046313.1:n.583+112C>T, 7170068, NC_000015.10:g.78620601G>C, NC_000015.9:g.78912943=, NG_016143.1:g.5695C>G, XM_011521173.1:c.-1175C>T, NC_000015.9:g.78912943G>A, XM_006720382.1:c.-984C>T, NG_016143.1:g.5695=, NC_000015.9:g.78912943G>C, NG_016143.1:g.5695C>T +PA166154920 rs7170769 NC_000015.10:91526975 1 0 0 0 0 rs58543442, 58543442, NC_000015.10:g.91526975C>T, NC_000015.9:g.92070205=, rs7170769, 7170769, NC_000015.9:g.92070205C>T, NC_000015.10:g.91526975= +PA166159979 rs7170924 PA29793 IL16 NC_000015.10:81290798 1 1 0 0 0 NC_000015.9:g.81583139G>T, NC_000015.9:g.81583139=, NC_000015.9:g.81583139G>C, NG_029933.1:g.98921=, NC_000015.10:g.81290798=, NG_029933.1:g.98921G>C, rs7170924, NG_029933.1:g.98921G>T, 7170924, 61625964, NC_000015.10:g.81290798G>C, NC_000015.10:g.81290798G>T +PA166154921 rs7176005 PA27091,PA134882405 CYP19A1,GLDN NC_000015.10:51339082 2 1 0 0 0 NC_000015.9:g.51631279=, NG_054998.1:g.662=, NM_000103.3:c.-626G>A, NC_000015.9:g.51631279C>T, NG_054998.1:g.662C>T, 57385418, NC_000015.10:g.51339082=, 7176005, NG_007982.1:g.4517G>A, NG_054933.1:g.2567=, rs7176005, rs57385418, NM_031226.2:c.-735G>A, NC_000015.10:g.51339082C>T, NG_054933.1:g.2567C>T, NG_007982.1:g.4517= +PA166153953 rs717620 PA116 ABCC2 NC_000010.11:99782821 84 17 0 0 0 rs717620, rs386485129, XR_945604.1:n.166C>T, XR_945605.1:n.168C>T, NG_011798.2:g.5224=, 386485129, NC_000010.10:g.101542578=, 58371376, NG_011798.1:g.5116=, NC_000010.11:g.99782821=, XM_011539291.1:c.-24C>T, NC_000010.11:g.99782821C>T, XM_005269536.1:c.-24C>T, 717620, 17216163, NG_011798.2:g.5224C>T, NC_000010.10:g.101542578C>T, XM_006717631.2:c.-24C>T, rs58371376, NM_000392.4:c.-24C>T, NG_011798.1:g.5116C>T, rs17216163 +PA166185489 rs7178270 PA26496 CHRNB4 NC_000015.10:78628735 2 1 0 0 0 NC_000015.10:g.78628735=, NC_000015.10:g.78628735C>T, 57166197, 7178270, NC_000015.10:g.78628735C>G, NC_000015.9:g.78921077C>A, NC_000015.9:g.78921077C>G, rs7178270, NC_000015.9:g.78921077=, NC_000015.9:g.78921077C>T, NC_000015.10:g.78628735C>A +PA166154922 rs7179742 PA142671750 FSIP1 NC_000015.10:39770852 1 1 0 0 0 XM_011521307.1:c.127-242T>C, NC_000015.10:g.39770852A>G, NM_152597.4:c.127-242T>C, XM_011521305.1:c.127-242T>C, NC_000015.10:g.39770852=, XM_005254209.1:c.127-242T>C, 7179742, 57685423, XM_011521309.1:c.127-242T>C, rs7179742, NC_000015.9:g.40063053A>G, NC_000015.9:g.40063053=, XM_011521308.1:c.127-242T>C, XM_011521306.1:c.127-242T>C, XM_005254208.1:c.127-242T>C, XM_005254210.1:c.-442-242T>C, XM_011521310.1:c.127-242T>C, XM_005254208.2:c.127-242T>C, rs57685423 +PA166170036 rs7180135 PA34176 RAD51 NC_000015.10:40731896 1 0 0 0 0 rs7180135, NG_012120.1:g.41736G>A, NC_000015.9:g.41024094G>T, NC_000015.10:g.40731896G>A, NC_000015.10:g.40731896G>C, NG_012120.1:g.41736=, NG_012120.1:g.41736G>C, NC_000015.10:g.40731896=, NC_000015.9:g.41024094G>A, NC_000015.9:g.41024094G>C, NC_000015.10:g.40731896G>T, NC_000015.9:g.41024094=, 59908665, NG_012120.1:g.41736G>T, 7180135 +PA166185404 rs7184292 NC_000016.10:52885654 2 2 0 0 0 NC_000016.10:g.52885654=, 7184292, NC_000016.10:g.52885654G>A, NC_000016.9:g.52919566=, rs7184292, 17299201, NC_000016.9:g.52919566G>A +PA166155076 rs7186128 NC_000016.10:16864058 1 1 0 0 0 58011988, rs56576370, NT_187607.1:g.2524971A=, rs57245322, NC_000016.10:g.16864058G=, NC_000016.9:g.16957915G>A, NT_187607.1:g.2524971A>G, rs58011988, NC_000016.9:g.16957915=, 56576370, NC_000016.10:g.16864058G>A, rs7186128, 7186128, 57245322, NC_000016.10:g.16864058= +PA166235847 rs718656 PA134944654 EXOC4 NC_000007.14:133436098 1 1 0 0 0 NC_000007.14:g.133436098=, NC_000007.13:g.133120852C>G, rs718656, NG_047176.1:g.188032C>G, NC_000007.13:g.133120852=, NC_000007.14:g.133436098C>G, NG_047176.1:g.188032C>T, NC_000007.13:g.133120852C>T, 58175436, 10338978, NG_047176.1:g.188032=, 718656, NC_000007.14:g.133436098C>T +PA166163246 rs7187684 PA134906523 CES1P1 NC_000016.10:55761039 3 1 0 0 0 NC_000016.10:g.55761039=, 16955778, NC_000016.10:g.55761039T>C, NC_000016.9:g.55794951=, NC_000016.9:g.55794951T>C, 7187684, rs7187684, 61140859 +PA166155077 rs7191246 PA380 CACNA1H NC_000016.10:1202737 1 0 0 0 0 NM_001005407.1:c.2002+285G>C, NC_000016.10:g.1202737=, XM_005255652.1:c.2002+285G>C, XM_005255655.1:c.2002+285G>C, NM_021098.2:c.2002+285G>C, 7191246, rs7191246, NG_012647.1:g.54497=, XM_006720967.2:c.2002+285G>C, NC_000016.10:g.1202737G>C, XM_005255652.3:c.2002+285G>C, XM_011522724.1:c.1456+285G>C, XM_006720964.2:c.2002+285G>C, NG_012647.1:g.54497G>C, NC_000016.9:g.1252737=, XM_011522726.1:c.2002+285G>C, XR_932960.1:n.2104+285G>C, XR_932995.1:n.-1026C>G, XM_011522727.1:c.2002+285G>C, XM_005255656.1:c.2002+285G>C, XM_005255653.1:c.2002+285G>C, XM_006720968.2:c.2002+285G>C, XM_006720965.2:c.2002+285G>C, XM_005255657.1:c.2002+285G>C, XM_006720963.2:c.2002+285G>C, NC_000016.9:g.1252737G>C, XM_006720969.2:c.2002+285G>C, XM_005255654.1:c.2002+285G>C +PA166203417 rs719149 PA36593 TNFAIP3 NC_000006.12:137871608 1 0 0 0 0 719149, NC_000006.12:g.137871608=, NG_032761.1:g.9165G>A, rs719149, NC_000006.11:g.138192745=, 61228083, NC_000006.11:g.138192745G>A, NC_000006.12:g.137871608G>A, NG_032761.1:g.9165= +PA166157548 rs719235 PA432 GGH NC_000008.11:63039122 3 1 0 0 0 NM_003878.2:c.-354G>T, NC_000008.11:g.63039122C>A, 58005468, rs719235, NC_000008.11:g.63039122=, NC_000008.10:g.63951681C>A, NG_028126.1:g.4930=, NC_000008.11:g.63039122C>T, NG_028126.1:g.4930G>A, 719235, rs58005468, XM_011517623.1:c.-354G>T, 3758150, rs3758150, NC_000008.10:g.63951681C>T, NG_028126.1:g.4930G>T, NC_000008.10:g.63951681= +PA166181215 rs7194256 PA310 SLC6A2 NC_000016.10:55703779 1 0 0 0 0 7194256, NC_000016.10:g.55703779=, NC_000016.10:g.55703779C>T, NC_000016.9:g.55737691C>T, NC_000016.9:g.55737691=, NG_016969.1:g.53150=, rs7194256, NG_016969.1:g.53150C>T, NC_000016.10:g.55703779C>G, NC_000016.9:g.55737691C>G, NG_016969.1:g.53150C>G +PA166155078 rs7194667 PA24393 ABCC11 NC_000016.10:48208987 1 1 0 0 0 NC_000016.10:g.48208987T>G, XM_005256208.1:c.1609-491A>C, NM_145186.2:c.1609-491A>C, NC_000016.9:g.48242898T>G, XR_243432.1:n.1714-491A>C, NC_000016.10:g.48208987=, NM_032583.3:c.1609-491A>C, XM_011523396.1:c.1411-491A>C, 7194667, NC_000016.9:g.48242898=, XM_005256210.1:c.1609-491A>C, rs7194667, NM_033151.3:c.1609-491A>C, rs61621252, NG_011522.1:g.31191=, NG_011522.1:g.31191A>C, 61621252, XM_011523397.1:c.652-491A>C, XM_005256209.1:c.1609-491A>C +PA166155079 rs7196161 PA133787052 VKORC1 NC_000016.10:31099660 5 1 0 0 0 NC_000016.10:g.31099660=, rs7196161, 7196161, VKORC1 381T>C on AY587020, NC_000016.9:g.31110981=, 17882285, NC_000016.9:g.31110981G>C, NG_011564.1:g.296C>T, NC_000016.10:g.31099660G>C, NC_000016.10:g.31099660G>A, NC_000016.9:g.31110981G>A, NG_011564.1:g.296C>G, rs17882285, NG_011564.1:g.296= +PA166155080 rs7200749 PA165450635,PA133787052 PRSS53,VKORC1 NC_000016.10:31091268 2 2 0 0 0 NC_000016.10:g.31091268G>A, XM_011545944.1:c.358C>T, rs7200749, NP_001298240.1:p.Leu148=, 7200749, XP_005255625.1:p.Leu148=, NC_000016.9:g.31102589=, NG_011564.1:g.8688=, XM_005255568.1:c.442C>T, XM_011545945.1:c.248C>T, XP_011544245.1:p.Leu148=, rs17881770, NM_001311311.1:c.442C>T, rs59562965, XP_011544246.1:p.Leu120=, NG_011564.1:g.8688C>T, NM_206824.2:c.248C>T, NP_996560.1:p.Pro83Leu, 59562965, XR_243303.1:n.907C>T, 17881770, NP_076869.1:p.Leu120=, XM_011545819.1:c.-2459C>T, XM_011545943.1:c.442C>T, NC_000016.9:g.31102589G>A, XM_011545818.1:c.-2459C>T, XM_011545816.1:c.-2459C>T, XM_011545820.1:c.-2459C>T, XM_011545817.1:c.-2459C>T, XP_011544247.1:p.Pro83Leu, NM_024006.5:c.358C>T, NC_000016.10:g.31091268=, XR_950848.1:n.1146C>T +PA166154298 rs720106 PA298 RRM1 NC_000011.10:4118748 2 1 0 0 0 NM_001318065.1:c.-265+287T>C, rs720106, XM_011520278.1:c.126+287T>C, NG_027992.2:g.29055T>C, NM_001033.4:c.792+287T>C, NC_000011.9:g.4139978=, NG_027992.2:g.29055=, NC_000011.10:g.4118748=, NM_001033.3:c.792+287T>C, XM_011520279.1:c.-265+287T>C, 720106, NM_001318064.1:c.501+287T>C, XM_011520277.1:c.501+287T>C, XM_005253058.1:c.549+287T>C, NC_000011.10:g.4118748T>C, XM_005253059.1:c.501+287T>C, NC_000011.9:g.4139978T>C +PA166155081 rs7204252 PA233 LRP1 NC_000016.10:29852848 1 0 0 0 0 NC_000016.10:g.29852848C>T, NC_000016.9:g.29864169=, 7204252, NC_000016.9:g.29864169C>T, rs57823063, rs7204252, 57823063, NC_000016.10:g.29852848= +PA166259904 rs7205113 NC_000016.10:84814217 1 1 0 0 0 NC_000016.9:g.84847823=, rs7205113, 7205113, NC_000016.9:g.84847823C>T, NC_000016.10:g.84814217=, NC_000016.10:g.84814217C>T +PA166180036 rs7208257 PA60 ARRB2 NC_000017.11:4717202 1 0 0 0 0 NC_000017.11:g.4717202=, NC_000017.11:g.4717202C>G, NC_000017.10:g.4620497C>T, 34825695, 12942583, NC_000017.11:g.4717202C>T, 7208257, rs7208257, NC_000017.11:g.4717202C>A, NC_000017.10:g.4620497C>A, 57673884, NC_000017.10:g.4620497C>G, NC_000017.10:g.4620497= +PA166195101 rs7210728 NC_000017.11:45891049 1 0 0 0 0 NG_007398.2:g.1587=, 17770236, NG_007398.1:g.1586G>A, NG_007398.2:g.1587G>A, NG_007398.1:g.1586=, 59888917, NC_000017.11:g.45891049=, rs7210728, 7210728, NC_000017.11:g.45891049G>A, NC_000017.10:g.43968415G>A, 116040405, 118088695, NC_000017.10:g.43968415= +PA166181487 rs7216383 PA376 ABCC3 NC_000017.11:50662182 1 0 0 0 0 NC_000017.10:g.48739543=, 58672601, rs7216383, 7216383, NC_000017.10:g.48739543T>C, NC_000017.11:g.50662182=, NC_000017.11:g.50662182T>C +PA166196176 rs7217270 PA38481 TRPV3 NC_000017.11:3518181 1 0 0 0 0 NG_032144.2:g.44815T>G, NC_000017.10:g.3421475A>C, NG_032144.2:g.44815T>C, NC_000017.10:g.3421475A>G, NG_032144.2:g.44815T>A, NC_000017.11:g.3518181=, NC_000017.11:g.3518181A>T, NG_032144.2:g.44815=, NC_000017.10:g.3421475A>T, NC_000017.11:g.3518181A>G, rs7217270, NC_000017.11:g.3518181A>C, NC_000017.10:g.3421475=, 7217270 +PA166286123 rs7222094 PA30597 MAP3K14 NC_000017.11:45290287 1 0 0 0 0 NG_033823.1:g.31762A>T, NC_000017.10:g.43367653=, 35840413, NC_000017.10:g.43367653T>A, rs7222094, NC_000017.10:g.43367653T>C, 7222094, 17758986, NG_033823.1:g.31762=, 57700037, NG_033823.1:g.31762A>G, NC_000017.11:g.45290287=, NC_000017.11:g.45290287T>A, NC_000017.11:g.45290287T>C +PA166209942 rs7224199 PA312 SLC6A4 NC_000017.11:30196708 1 0 0 0 0 NC_000017.10:g.28523726=, NC_000017.11:g.30196708G>A, 61135285, NC_000017.11:g.30196708=, NC_000017.11:g.30196708G>C, NG_011747.2:g.44229C>A, NC_000017.10:g.28523726G>C, NC_000017.10:g.28523726G>A, NG_011747.2:g.44229=, 58612064, rs7224199, NG_011747.2:g.44229C>T, NC_000017.11:g.30196708G>T, 7224199, NC_000017.10:g.28523726G>T, NG_011747.2:g.44229C>G +PA166155304 rs7231887 PA36601 TNFRSF11A NC_000018.10:62364256 1 0 0 0 0 NC_000018.10:g.62364256G>A, XM_011526245.1:c.623-2452G>A, NC_000018.10:g.62364256=, NC_000018.9:g.60031489G>A, XM_005266777.1:c.731-2452G>A, rs61090406, XR_935263.1:n.761-2452G>A, NM_001278268.1:c.689-2452G>A, NM_001270949.1:c.731-2452G>A, NG_008098.1:g.43942=, NM_001270950.1:c.730+2463G>A, NM_003839.2:c.731-2452G>A, 7231887, 60410524, rs7231887, NM_001270951.1:c.616+4207G>A, NM_003839.3:c.731-2452G>A, XM_011526244.1:c.746-2452G>A, NG_008098.1:g.43942G>A, 61090406, NC_000018.9:g.60031489=, rs60410524 +PA166170320 rs7234029 PA33993 PTPN2 NC_000018.10:12877061 2 0 0 0 0 NC_000018.10:g.12877061=, NC_000018.10:g.12877061A>T, 61050173, NG_029116.1:g.12275T>A, rs7234029, 7234029, NC_000018.10:g.12877061A>G, NC_000018.9:g.12877060=, NG_029116.1:g.12275T>C, NC_000018.9:g.12877060A>C, NG_029116.1:g.12275T>G, NC_000018.9:g.12877060A>G, NC_000018.10:g.12877061A>C, NG_029116.1:g.12275=, 61683113, NC_000018.9:g.12877060A>T +PA166154499 rs723672 PA83 CACNA1C NC_000012.12:2052395 1 0 0 0 0 XM_005253768.1:c.-1168C>T, NM_001167624.2:c.-1168C>T, NM_001129831.1:c.-1168C>T, XM_005253783.1:c.-1168C>T, XM_005253766.1:c.-1168C>T, NM_001129833.1:c.-1168C>T, XM_005253785.1:c.-1168C>T, XM_005253787.1:c.-1168C>T, XM_005253765.1:c.140-62829C>T, NM_001129839.1:c.-1168C>T, NM_001129835.1:c.-1168C>T, XM_011521023.1:c.-1168C>T, NM_001167625.1:c.-1168C>T, NC_000012.12:g.2052395=, NM_001129837.1:c.-1168C>T, NM_001167623.1:c.-1168C>T, XM_005253773.1:c.-1168C>T, XM_005253774.1:c.-1168C>T, XM_005253776.1:c.-1168C>T, XM_005253775.1:c.-1168C>T, XM_011521022.1:c.-1168C>T, XM_005253779.1:c.-1168C>T, XM_005253778.1:c.-1168C>T, XM_005253777.1:c.-1168C>T, XM_011521021.1:c.-1168C>T, XM_006719017.1:c.140-62829C>T, NM_001129827.1:c.-1168C>T, NG_008801.2:g.86610=, NM_001129829.1:c.-1168C>T, rs723672, XM_005253769.1:c.-1168C>T, XM_005253780.1:c.-1168C>T, XM_005253767.1:c.-1168C>T, XM_011521018.1:c.-2286C>T, NM_001129832.1:c.-1168C>T, XM_005253784.1:c.-1168C>T, NM_001129834.1:c.-1168C>T, NG_008801.2:g.86610C>T, NC_000012.11:g.2161561C>G, NM_199460.3:c.-1168C>T, XM_005253786.1:c.-1168C>T, NG_008801.2:g.86610C>A, NC_000012.11:g.2161561C>A, NM_001129836.1:c.-1168C>T, NC_000012.12:g.2052395C>T, NG_008801.2:g.86610C>G, NM_001129838.1:c.-1168C>T, XM_005253772.1:c.-1168C>T, XM_005253771.1:c.-1168C>T, XM_005253770.1:c.-1168C>T, NM_001129840.1:c.-1168C>T, 723672, NM_001129842.1:c.-1168C>T, XM_011521020.1:c.140-62829C>T, NM_001129841.1:c.-1168C>T, NC_000012.12:g.2052395C>G, NM_001129846.1:c.-1168C>T, NM_000719.6:c.-1168C>T, NM_001129843.1:c.-1168C>T, NC_000012.12:g.2052395C>A, NM_001129830.2:c.-1168C>T, NM_001129844.1:c.-1168C>T, NC_000012.11:g.2161561C>T, XM_005253782.1:c.-1168C>T, NC_000012.11:g.2161561=, XM_005253781.1:c.-1168C>T +PA166156941 rs723685 PA134911502 SLC22A16 NC_000006.12:110442672 2 1 0 0 0 XM_011536204.1:c.626T>C, XM_011536209.1:c.350T>C, XP_011534509.1:p.Val134Ala, XP_011534514.1:p.Val22Ala, XP_011534510.1:p.Val122Ala, 723685, XP_011534506.1:p.Val209Ala, XM_011536205.1:c.755T>C, rs59277963, XM_005267184.1:c.245T>C, NM_033125.3:c.755T>C, XP_005267240.1:p.Val220Ala, XP_011534511.1:p.Val117Ala, XP_005267241.1:p.Val82Ala, rs723685, XM_005267183.1:c.659T>C, XP_011534512.1:p.Val252Ala, XP_011534513.1:p.Val92Ala, XM_011536206.1:c.473T>C, 59277963, XM_011536208.1:c.365T>C, XM_011536210.1:c.755T>C, 52815010, XP_005267242.1:p.Val98Ala, XM_005267185.1:c.293T>C, NC_000006.11:g.110763875A>G, XM_011536211.1:c.275T>C, XM_011536212.1:c.65T>C, XM_011536207.1:c.401T>C, rs52815010, NC_000006.12:g.110442672=, NP_149116.2:p.Val252=, NP_149116.2:p.Val252Ala, XP_011534508.1:p.Val158Ala, NC_000006.11:g.110763875=, XM_005267184.2:c.245T>C, NC_000006.12:g.110442672A>G, XP_011534507.1:p.Val252Ala +PA166155305 rs7237982 PA36601 TNFRSF11A NC_000018.10:62337020 1 0 0 0 0 NM_003839.2:c.76-11148A>G, NM_001270950.1:c.76-11148A>G, NG_008098.1:g.16706A>G, NC_000018.10:g.62337020=, NG_008098.1:g.16706A>C, NG_008098.1:g.16706=, NC_000018.9:g.60004253=, XR_935263.1:n.91-11148A>G, rs60068405, rs7237982, NM_001270951.1:c.76-11148A>G, NC_000018.10:g.62337020A>T, 7237982, NM_003839.3:c.76-11148A>G, XM_011526245.1:c.-44+633A>G, 60068405, NM_001278268.1:c.76-11148A>G, NC_000018.9:g.60004253A>G, XM_011526244.1:c.76-11148A>G, NC_000018.10:g.62337020A>G, NC_000018.9:g.60004253A>C, NC_000018.10:g.62337020A>C, NC_000018.9:g.60004253A>T, XM_005266777.1:c.76-11148A>G, NG_008098.1:g.16706A>T, NM_001270949.1:c.76-11148A>G +PA166155306 rs7239261 PA36601 TNFRSF11A NC_000018.10:62337813 1 0 0 0 0 XM_011526244.1:c.76-10355A>C, NC_000018.9:g.60005046=, NM_001270949.1:c.76-10355A>C, NC_000018.10:g.62337813A>T, 59007777, NG_008098.1:g.17499A>T, XR_935263.1:n.91-10355A>C, NC_000018.9:g.60005046A>T, NG_008098.1:g.17499=, XM_011526245.1:c.-44+1426A>C, NC_000018.10:g.62337813=, NM_003839.3:c.76-10355A>C, NM_001270951.1:c.76-10355A>C, XM_005266777.1:c.76-10355A>C, NM_003839.2:c.76-10355A>C, rs7239261, NC_000018.10:g.62337813A>C, NM_001278268.1:c.76-10355A>C, NM_001270950.1:c.76-10355A>C, NC_000018.9:g.60005046A>C, 7239261, NG_008098.1:g.17499A>C, rs59007777 +PA166155307 rs7239621 NC_000018.10:77217539 1 0 0 0 0 rs7239621, NC_000018.10:g.77217539=, 57861657, 7239621, NC_000018.10:g.77217539C>T, NC_000018.9:g.74929495C>T, NC_000018.9:g.74929495=, rs57861657 +PA166155308 rs7239667 PA36601 TNFRSF11A NC_000018.10:62362005 1 0 0 0 0 NC_000018.9:g.60029238G>C, 7239667, rs7239667, NG_008098.1:g.41691=, XR_935263.1:n.760+212G>C, NC_000018.10:g.62362005G>C, NM_001270949.1:c.730+212G>C, NM_001278268.1:c.688+212G>C, NM_001270950.1:c.730+212G>C, NM_001270951.1:c.616+1956G>C, NG_008098.1:g.41691G>C, NC_000018.10:g.62362005=, XM_005266777.1:c.730+212G>C, NC_000018.9:g.60029238=, NM_003839.2:c.730+212G>C, NM_003839.3:c.730+212G>C, XM_011526245.1:c.622+212G>C, XM_011526244.1:c.745+212G>C +PA166157241 rs7242 PA261 SERPINE1 NC_000007.14:101138164 1 0 0 0 0 7242, NC_000007.14:g.101138164=, NG_013213.1:g.16067=, NC_000007.14:g.101138164T>G, rs59555200, rs7242, NG_013213.1:g.16067T>G, NM_000602.4:c.*722T>G, XM_005250392.1:c.*722T>G, rs11553536, 59555200, NC_000007.13:g.100781445=, NC_000007.13:g.100781445T>G, rs3167785, rs1799866, 11553536, 1799866, 3167785 +PA166157264 rs724226 PA28992 GRM3 NC_000007.14:86696058 2 2 0 0 0 NC_000007.13:g.86325374A>T, NC_000007.14:g.86696058A>T, rs802476, NC_000007.13:g.86325374A>G, XM_005250289.1:c.100+51186A>G, 724226, NC_000007.14:g.86696058A>G, NC_000007.13:g.86325374=, NC_000007.13:g.86325374A>C, rs59914090, 802476, XM_011516089.1:c.-141+51186A>G, rs724226, NC_000007.14:g.86696058=, XM_005250287.1:c.84+51186A>G, XM_011516088.1:c.-141+51186A>G, NC_000007.14:g.86696058A>C, XM_011516090.1:c.-141+51186A>G, NM_000840.2:c.-141+51186A>G, 59914090 +PA166159077 rs7242734 NC_000018.10:2394987 1 0 0 0 0 7242734, rs7242734, NC_000018.10:g.2394987=, NC_000018.9:g.2394986=, NC_000018.10:g.2394987G>T, NC_000018.9:g.2394986G>T +PA166170431 rs7246465 PA123 CYP2B6 NC_000019.10:41017398 1 0 0 0 0 NG_007929.1:g.31100T>C, NG_007929.1:g.31100T>A, 57030340, NC_000019.9:g.41523303T>A, NC_000019.9:g.41523303T>C, 7246465, NC_000019.10:g.41017398T>C, rs7246465, 28969418, NC_000019.10:g.41017398=, NC_000019.10:g.41017398T>A, NC_000019.9:g.41523303T>G, NC_000019.10:g.41017398T>G, NG_007929.1:g.31100T>G, NC_000019.9:g.41523303=, NG_007929.1:g.31100=, 117836629 +PA166155599 rs724710 PA25305 BCL2L11 NC_000002.12:111150114 4 2 0 0 0 XR_244806.1:n.753T>C, 56505964, XM_005263552.2:c.567T>C, NC_000002.11:g.111907691T>C, XM_005263554.1:c.677-14019T>C, 60076061, XR_244810.1:n.483T>C, NC_000002.11:g.111907691T>A, XR_244807.1:n.683-3666T>C, XR_244804.1:n.536T>C, 724710, NM_001204111.1:c.215-14019T>C, NP_001191036.1:p.Ile65=, rs17551042, XM_005263557.3:c.465T>C, XM_005263556.2:c.465T>C, NM_207003.2:c.195T>C, XM_005263555.2:c.477T>C, XM_005263561.1:c.285T>C, XR_244802.2:n.806T>C, NM_138627.3:c.125-14019T>C, rs13033893, 17551042, XR_244812.1:n.483T>C, 13033893, XP_011508765.1:p.Ile172=, XR_244801.1:n.806T>C, NM_001204106.1:c.195T>C, NM_001204108.1:c.465T>C, XR_922828.1:n.806T>C, NP_001191039.1:p.Ile65=, XM_005263553.1:c.567T>C, XM_011510463.1:c.516T>C, XR_244802.1:n.806T>C, XR_244803.1:n.626T>C, XR_244805.1:n.753T>C, XR_244808.1:n.786T>C, XM_005263551.1:c.747T>C, 3761703, XR_244811.1:n.503-3666T>C, NM_138622.3:c.465T>C, NM_138623.3:c.285T>C, XM_005263552.1:c.567T>C, NP_996886.1:p.Ile65=, NP_619529.1:p.Ile95=, XP_005263609.1:p.Ile189=, NM_006538.4:c.285T>C, XM_005263550.1:c.747T>C, XP_005263616.1:p.Ile159=, NG_029006.1:g.34201T>C, XR_922829.1:n.806T>C, XM_005263560.1:c.497-14019T>C, NP_006529.1:p.Ile95=, XM_005263556.1:c.465T>C, XP_005263612.1:p.Ile159=, XM_005263555.1:c.477T>C, NP_001191037.1:p.Ile155=, XP_005263618.1:p.Ile95=, NM_138621.4:c.465T>C, NC_000002.11:g.111907691=, NC_000002.12:g.111150114T>C, rs56505964, rs60076061, NC_000002.12:g.111150114T>A, XP_005263613.1:p.Ile155=, NM_001204107.1:c.195T>C, XP_005263614.1:p.Ile155=, rs724710, NM_001204109.1:c.395-3666T>C, NM_138624.3:c.*90T>C, NG_029006.1:g.34201=, NM_138625.3:c.*83T>C, NC_000002.12:g.111150114=, XP_005263608.1:p.Ile249=, NP_001191035.1:p.Ile65=, NM_001204112.1:c.215-3666T>C, NM_138626.3:c.395-14019T>C, XM_005263550.2:c.747T>C, XM_005263559.1:c.477T>C, XR_922830.1:n.736-3666T>C, rs3761703, XP_005263610.1:p.Ile189=, NM_001204110.1:c.195T>C, NP_619527.1:p.Ile155=, XR_244809.1:n.573T>C, NP_619528.1:p.Ile155=, XM_005263557.1:c.465T>C, NG_029006.1:g.34201T>A, XM_005263561.2:c.285T>C, XP_005263607.1:p.Ile249= +PA166155428 rs7247267 NC_000019.10:43334601 1 0 0 0 0 rs7247267, rs60495720, NC_000019.9:g.43838753=, NC_000019.9:g.43838753G>A, NC_000019.9:g.43838753G>T, NC_000019.10:g.43334601G>T, 7247267, 60495720, NC_000019.10:g.43334601G>A, NC_000019.10:g.43334601= +PA166279696 rs7248240 PA121 CYP2A6 NC_000019.10:40843735 58 6 6 0 0 NG_008377.1:g.11713C>T, NC_000019.10:g.40843735G>A, NC_000019.10:g.40843735=, NC_000019.9:g.41349640=, NC_000019.9:g.41349640G>C, 61358721, NC_000019.9:g.41349640G>A, NC_000019.10:g.40843735G>C, NG_008377.1:g.11713C>G, rs7248240, NG_008377.1:g.11713=, 7248240 +PA166155429 rs7248668 PA134952671 IFNL3 NC_000019.10:39253181 3 1 0 0 0 NC_000019.9:g.39743821=, NG_055295.1:g.676=, NC_000019.10:g.39253181G>A, NC_000019.10:g.39253181=, rs7248668, 7248668, NG_055295.1:g.676C>T, NC_000019.9:g.39743821G>A +PA166155430 rs7251786 PA165393298,PA166181596,PA162406385 CCDC159,PLPPR2,TMEM205 NC_000019.10:11354453 1 0 0 0 0 XM_005259736.1:c.770-127C>T, 58952587, XM_006722643.1:c.881-127C>T, 52803261, NM_001080503.2:c.773-127C>T, XM_005260017.1:c.-1309C>T, XM_005259733.1:c.1010-127C>T, NC_000019.9:g.11465129C>T, 7251786, rs7251786, rs17775684, NM_022737.2:c.-1309C>T, XR_936156.1:n.1082-127C>T, XM_005259734.1:c.773-127C>T, rs52803261, NM_001170635.1:c.-1309C>T, XM_005260018.1:c.-1350C>T, XM_005260019.1:c.-1350C>T, 17775684, NC_000019.9:g.11465129=, XM_005259737.1:c.704-127C>T, NC_000019.10:g.11354453C>T, NC_000019.10:g.11354453=, XM_005259735.1:c.770-127C>T, rs58952587, XM_005259732.1:c.1010-127C>T +PA166155431 rs7254351 PA26007 CACNA1A NC_000019.10:13207166 1 0 0 0 0 NG_011569.1:g.304295=, rs58256627, NG_011569.1:g.304295C>A, NC_000019.9:g.13317980=, NC_000019.9:g.13317980G>T, XM_005260066.1:c.*147C>A, NM_000068.3:c.*880C>A, NM_023035.2:c.*147C>A, XM_005260068.1:c.*147C>A, NM_001127221.1:c.*880C>A, XM_005260067.1:c.*147C>A, NC_000019.10:g.13207166G>T, rs7254351, NM_001174080.1:c.*880C>A, 7254351, 58256627, NC_000019.10:g.13207166=, XM_005260065.1:c.*147C>A, NM_001127222.1:c.*147C>A +PA166155433 rs7254579 PA123 CYP2B6 NC_000019.10:40988986 1 1 0 0 0 rs12721651, NG_007929.1:g.2688=, rs7254579, NC_000019.10:g.40988986T>G, 7254579, NG_055439.1:g.34T>G, NC_000019.10:g.40988986=, NC_000019.10:g.40988986T>C, 61045078, NG_055439.1:g.34T>C, NG_007929.1:g.2688T>G, NC_000019.9:g.41494891T>C, NG_007929.1:g.2688T>C, NG_055439.1:g.34=, NC_000019.9:g.41494891=, NC_000019.9:g.41494891T>G, rs61045078, 12721651 +PA166154960 rs72547513 PA27093 CYP1A2 NC_000015.10:74750296 1 0 0 0 0 NC_000015.10:g.74750296C>T, NP_000752.2:p.Phe186=, 72547513, NG_061543.1:g.6452C>T, NM_000761.3:c.558C>T, rs72547513, NC_000015.9:g.75042637C>T, NM_000761.4:c.558C>A, NG_008431.1:g.32755C>A, NP_000752.2:p.Phe186Leu, NG_008431.2:g.32755C>T, NC_000015.9:g.75042637=, NC_000015.10:g.74750296C>A, NG_061543.1:g.6452C>A, NG_061543.1:g.6452=, NC_000015.9:g.75042637C>A, NG_008431.2:g.32755C>A, NG_008431.2:g.32755=, NM_000761.3:c.558C>A, NC_000015.10:g.74750296=, NM_000761.4:c.558C>T, NG_008431.1:g.32755C>T +PA166154962 rs72547516 PA27093 CYP1A2 NC_000015.10:74752237 2 1 0 0 0 NG_008431.2:g.34696A>T, 72547516, NC_000015.9:g.75044578A>G, NM_000761.3:c.1156A>G, NP_000752.2:p.Ile386Val, NC_000015.10:g.74752237A>T, NG_008431.1:g.34696A>G, NG_061543.1:g.8393A>T, NC_000015.10:g.74752237=, NM_000761.4:c.1156A>T, NP_000752.2:p.Ile386=, rs72547516, NC_000015.9:g.75044578=, NP_000752.2:p.Ile386Phe, NG_008431.1:g.34696A>T, NC_000015.9:g.75044578A>T, NM_000761.3:c.1156A>T, NG_008431.2:g.34696A>G, NM_000761.4:c.1156A>G, NG_061543.1:g.8393=, NC_000015.10:g.74752237A>G, NG_008431.2:g.34696=, NG_061543.1:g.8393A>G +PA166154963 rs72547517 PA27093 CYP1A2 NC_000015.10:74754904 3 1 0 0 0 NC_000015.9:g.75047245G>A, NM_000761.3:c.1367G>A, 72547517, NG_061543.1:g.11060=, NC_000015.10:g.74754904=, NG_008431.1:g.37363G>A, NM_000761.4:c.1367G>A, NC_000015.10:g.74754904G>A, rs72547517, NG_061543.1:g.11060G>A, NG_008431.2:g.37363G>A, NG_008431.2:g.37363=, NP_000752.2:p.Arg456His, NP_000752.2:p.Arg456=, NC_000015.9:g.75047245= +PA166186140 rs72547527 PA343 SULT1A1 NC_000016.10:28608746 3 3 0 0 0 NP_001046.2:p.Arg37Leu, 143283780, 72547527, NC_000016.10:g.28608746C>A, NC_000016.10:g.28608746=, NC_000016.9:g.28620067C>A, NG_028128.1:g.19800G>A, rs72547527, NG_028128.1:g.19800=, NC_000016.10:g.28608746C>T, NC_000016.9:g.28620067=, NC_000016.9:g.28620067C>T, NG_028128.1:g.19800G>T, NP_001046.2:p.Arg37=, NP_001046.2:p.Arg37Gln +PA166155136 rs72547529 PA133787052 VKORC1 NC_000016.10:31093399 4 1 0 0 0 72547529, XP_005255625.1:p.Val66Met, NC_000016.9:g.31104720=, NG_011564.1:g.6557=, NM_024006.5:c.196G>A, NM_206824.2:c.173+1158G>A, NC_000016.10:g.31093399C>T, NM_001311311.1:c.196G>A, XR_950848.1:n.984G>A, XM_011545945.1:c.173+1158G>A, XM_011545943.1:c.196G>A, NP_001298240.1:p.Val66Met, rs72547529, NP_076869.1:p.Val66Met, XP_011544246.1:p.Val66Met, XP_011544245.1:p.Val66Met, XM_011545944.1:c.196G>A, NC_000016.9:g.31104720C>T, NG_011564.1:g.6557G>A, XM_005255568.1:c.196G>A, NC_000016.10:g.31093399=, NP_076869.1:p.Val66=, XR_243303.1:n.823-78G>A +PA166153896 rs72547601 PA145 DPYD NC_000001.11:97079121 2 0 0 1 0 NM_000110.3:c.2933A>G, XP_005270619.2:p.His906Arg, 72547601, NC_000001.10:g.97544677T>C, rs72547601, NC_000001.11:g.97079121T>G, XM_005270562.1:c.2717A>G, NC_000001.10:g.97544677T>G, NP_000101.2:p.His978Arg, XM_005270561.1:c.2822A>G, NC_000001.10:g.97544677=, NC_000001.11:g.97079121T>C, XP_005270618.1:p.His941Arg, NC_000001.11:g.97079121=, XP_005270619.1:p.His906Arg, NG_008807.2:g.846939A>C, NP_000101.2:p.His978Pro, NP_000101.2:p.His978=, NG_008807.2:g.846939=, NG_008807.2:g.846939A>G, XM_005270562.3:c.2717A>G +PA166159798 rs72547602 PA145 DPYD NC_000001.11:97079133 1 0 0 1 0 72547602, NC_000001.11:g.97079133T>A, NP_000101.2:p.Asp974=, NP_000101.2:p.Asp974Ala, rs72547602, NG_008807.2:g.846927A>C, NC_000001.10:g.97544689=, NC_000001.11:g.97079133=, NP_000101.2:p.Asp974Val, NC_000001.10:g.97544689T>A, NC_000001.11:g.97079133T>G, NG_008807.2:g.846927=, NC_000001.10:g.97544689T>G, NG_008807.2:g.846927A>T +PA166153897 rs72549303 PA145 DPYD NC_000001.11:97450067 3 1 0 2 0 NC_000001.10:g.97915622delG, XM_005270563.1:c.1898delC, XP_005270618.1:p.Pro596Glnfs, XM_005270561.1:c.1787delC, NC_000001.10:g.97915623del, XM_005270562.1:c.1682delC, XP_005270620.1:p.Pro633Glnfs, 72549303, NM_000110.3:c.1898delC, XP_006710460.1:p.Pro633Glnfs, NG_008807.2:g.475994delC, XP_005270619.2:p.Pro561Glnfs, NC_000001.10:g.97915622_97915623=, NG_008807.2:g.475993_475994=, rs72549303, NC_000001.11:g.97450066_97450067=, NC_000001.11:g.97450067del, NP_000101.2:p.Pro633Glnfs, NP_000101.2:p.Pro633=, NG_008807.2:g.475994del, NC_000001.11:g.97450066delG, NP_000101.2:p.Pro633fs, XP_005270619.1:p.Pro561Glnfs, XM_006710397.2:c.1898delC, DPYD*3, XM_005270562.3:c.1682delC +PA166153898 rs72549304 PA145 DPYD NC_000001.11:97549609 2 0 0 1 0 XM_005270561.1:c.1364C>T, NC_000001.11:g.97549609=, XM_006710397.2:c.1475C>T, NG_008807.2:g.376451C>A, XP_005270621.1:p.Ser492Leu, NC_000001.10:g.98015165G>T, XM_005270562.1:c.1475C>T, XM_005270564.1:c.1475C>T, XM_005270562.3:c.1475C>T, NM_000110.3:c.1475C>T, NG_008807.2:g.376451C>G, 72549304, NP_000101.2:p.Ser492Leu, NG_008807.2:g.376451=, NC_000001.10:g.98015165=, NP_000101.2:p.Ser492Ter, XM_005270563.1:c.1475C>T, NC_000001.11:g.97549609G>C, NC_000001.10:g.98015165G>A, NC_000001.11:g.97549609G>A, NG_008807.2:g.376451C>T, NC_000001.10:g.98015165G>C, XP_005270618.1:p.Ser455Leu, NP_000101.2:p.Ser492=, rs72549304, XP_005270619.1:p.Ser492Leu, XP_005270619.2:p.Ser492Leu, NP_000101.2:p.Ser492Trp, XP_005270620.1:p.Ser492Leu, NC_000001.11:g.97549609G>T, XP_006710460.1:p.Ser492Leu +PA166159775 rs72549305 PA145 DPYD NC_000001.11:97593238 2 0 0 1 0 NC_000001.11:g.97593238=, NG_008807.2:g.332822A>G, NC_000001.10:g.98058794T>C, NC_000001.11:g.97593238T>C, NP_000101.2:p.Ile370=, rs72549305, NP_000101.2:p.Ile370Val, 72549305, NC_000001.10:g.98058794=, NG_008807.2:g.332822= +PA166153899 rs72549306 PA145 DPYD NC_000001.11:97593343 3 1 0 1 0 NC_000001.10:g.98058899=, NC_000001.11:g.97593343C>A, XP_005270620.1:p.Val335Leu, NM_000110.3:c.1003G>T, NP_000101.2:p.Val335Leu, NP_000101.2:p.Val335Met, XP_005270621.1:p.Val335Leu, XP_005270619.1:p.Val335Leu, NP_000101.2:p.Val335=, NC_000001.11:g.97593343=, NG_008807.2:g.332717G>T, XM_005270562.1:c.1003G>T, NC_000001.11:g.97593343C>T, 72549306, XM_005270561.1:c.892G>T, XP_005270618.1:p.Val298Leu, XP_005270619.2:p.Val335Leu, DPYD*11, XP_006710460.1:p.Val335Leu, NC_000001.10:g.98058899C>A, NG_008807.2:g.332717=, rs72549306, XM_005270562.3:c.1003G>T, XM_005270563.1:c.1003G>T, XM_005270564.1:c.1003G>T, NC_000001.10:g.98058899C>T, NG_008807.2:g.332717G>A, XM_006710397.2:c.1003G>T +PA166153900 rs72549307 PA145 DPYD NC_000001.11:97699399 3 0 0 1 0 NC_000001.11:g.97699399=, NP_000101.2:p.Tyr211=, NP_000101.2:p.Tyr211Cys, NG_008807.2:g.226661A>G, XM_005270561.1:c.521A>G, XP_005270619.2:p.Tyr211Cys, NM_000110.3:c.632A>G, XM_005270562.3:c.632A>G, XM_005270563.1:c.632A>G, rs72549307, XP_005270619.1:p.Tyr211Cys, XM_005270562.1:c.632A>G, XM_006710397.2:c.632A>G, NC_000001.10:g.98164955=, NC_000001.11:g.97699399T>C, NG_008807.2:g.226661=, XP_005270618.1:p.Tyr174Cys, XP_006710460.1:p.Tyr211Cys, XP_005270621.1:p.Tyr211Cys, 72549307, XP_005270620.1:p.Tyr211Cys, XM_005270564.1:c.632A>G, NC_000001.10:g.98164955T>C +PA166153901 rs72549308 PA145 DPYD NC_000001.11:97699430 2 0 0 1 0 XM_005270562.3:c.601A>C, NM_000110.3:c.601A>C, XM_005270563.1:c.601A>C, XM_005270561.1:c.490A>C, NC_000001.11:g.97699430=, XP_006710460.1:p.Ser201Arg, NP_000101.2:p.Ser201=, XM_005270562.1:c.601A>C, rs72549308, NC_000001.10:g.98164986T>G, XP_005270619.1:p.Ser201Arg, XM_005270564.1:c.601A>C, XP_005270621.1:p.Ser201Arg, NG_008807.2:g.226630A>C, NC_000001.11:g.97699430T>G, XP_005270618.1:p.Ser164Arg, XP_005270619.2:p.Ser201Arg, NG_008807.2:g.226630=, NP_000101.2:p.Ser201Arg, NC_000001.10:g.98164986=, XP_005270620.1:p.Ser201Arg, XM_006710397.2:c.601A>C, 72549308 +PA166153902 rs72549309 PA145 DPYD NC_000001.11:97740411_97740418 5 1 0 2 0 NP_000101.2:p.Phe100fs, XM_005270562.3:c.295_298delTCAT, NG_008807.2:g.185642_185649=, NC_000001.11:g.97740415_97740418delATGA, NP_000101.2:p.Phe100Serfs, XP_005270619.1:p.Phe100Serfs, NP_001153773.1:p.Phe100Serfs, XM_005270561.1:c.184_187delTCAT, NM_001160301.1:c.295_298delTCAT, NG_008807.2:g.185642_185645TCAT[1], NC_000001.11:g.97740411ATGA[1], NM_000110.3:c.295_298delTCAT, 72549309, NC_000001.10:g.98205967_98205970ATGA[1], NC_000001.11:g.97740411_97740414ATGA[1], XP_005270621.1:p.Phe100Serfs, XM_005270564.1:c.295_298delTCAT, XM_005270563.1:c.295_298delTCAT, XM_005270562.1:c.295_298delTCAT, rs72549309, XP_005270618.1:p.Phe63Serfs, NG_008807.2:g.185642_185645delTCAT, XP_006710460.1:p.Phe100Serfs, NC_000001.11:g.97740411_97740418=, NC_000001.10:g.98205971_98205974delATGA, XP_005270620.1:p.Phe100Serfs, NC_000001.10:g.98205967_98205974=, XM_006710397.2:c.295_298delTCAT, XP_005270619.2:p.Phe100Serfs, NP_000101.2:p.Ser99_Ile101=, DPYD*7 +PA166159712 rs72549310 PA145 DPYD NC_000001.11:97883353 1 0 0 1 0 72549310, NC_000001.11:g.97883353=, rs72549310, NC_000001.10:g.98348909=, NG_008807.2:g.42707=, NC_000001.10:g.98348909G>A, NG_008807.2:g.42707C>T, NC_000001.11:g.97883353G>A, NP_000101.2:p.Arg21Ter, NP_000101.2:p.Arg21= +PA166156176 rs72549346 PA128 CYP2D6 NC_000022.11:42127534 1 1 1 0 0 XP_011546052.1:p.Gln316Cysfs, XP_005278410.1:p.Gln316Cysfs, NP_000097.3:p.Gln364Cysfs, XP_005278411.1:p.Gln264Cysfs, NG_008376.4:g.8278_8280=, XM_011547750.1:c.944_945insGT, XP_011528269.1:p.Gln364Cysfs, XM_011547541.1:c.*194_*195insGT, XM_005278354.1:c.788_789insGT, NW_004504305.1:g.49858_49859insAC, NM_001025161.2:c.935_936insGT, NW_009646208.1:g.13097_13098insAC, XM_011547751.1:c.872_873insGT, XP_011528270.1:p.Gln364Cysfs, 72549346, XP_011528272.1:p.Gln313Cysfs, NP_001020332.2:p.Gln313Cysfs, XM_011529966.1:c.1088_1089insGT, NP_000097.3:p.Val363=, XM_011529969.1:c.944_945insGT, NG_008376.4:g.8279_8280dup, NC_000022.10:g.42523533_42523535=, XM_005278353.1:c.944_945insGT, XM_011529967.1:c.1088_1089insGT, XP_011546053.1:p.Gln292Cysfs, NC_000022.10:g.42523533_42523534insAC, NG_008376.3:g.7460_7461insGT, XM_011529968.1:c.1088_1089insGT, XM_011529972.1:c.*73_*74insGT, NC_000022.11:g.42127532_42127533dup, XR_952745.1:n.2103_2104insGT, rs72549346, NC_000022.11:g.42127531_42127532insAC, XP_011528271.1:p.Gln316Cysfs, XM_011548819.1:c.*194_*195insGT, NM_000106.5:c.1088_1089insGT, XM_005278354.3:c.788_789insGT, NP_000097.3:p.Gln364fs, NC_000022.11:g.42127531_42127533=, NT_187682.1:g.49872_49873insAC, XM_011529971.1:c.944_945insGT, XP_011528273.1:p.Gln316Cysfs, XM_011529970.1:c.935_936insGT, XP_011528268.1:p.Gln364Cysfs, NC_000022.10:g.42523534_42523535dup +PA166156208 rs72549347 PA128 CYP2D6 NC_000022.11:42127590 2 1 1 0 0 XP_005278410.1:p.Arg296Ter, NP_000097.3:p.Arg344=, NP_001020332.2:p.Arg293Ter, XM_011529966.1:c.1030C>T, XM_011529968.1:c.1030C>T, XP_011528271.1:p.Arg296Ter, XM_011529969.1:c.886C>T, NC_000022.11:g.42127590G>A, XM_011547751.1:c.814C>T, XM_011547750.1:c.886C>T, NC_000022.11:g.42127590=, XP_011546052.1:p.Arg296Ter, XP_011546053.1:p.Arg272Ter, XP_011528272.1:p.Arg293Ter, XM_011529972.1:c.*15C>T, NC_000022.10:g.42523592=, 72549347, NM_001025161.2:c.877C>T, XM_011548819.1:c.*136C>T, NM_000106.5:c.1030C>T, NW_004504305.1:g.49917G>A, NG_008376.3:g.7402C>T, NG_008376.4:g.8221=, XM_005278354.3:c.730C>T, XM_011529971.1:c.886C>T, NG_008376.3:g.7402=, XM_011529970.1:c.877C>T, XR_952745.1:n.2045C>T, rs72549347, NT_187682.1:g.49931G>A, XM_005278353.1:c.886C>T, XP_005278411.1:p.Arg244Ter, NP_000097.3:p.Arg344Ter, XM_011547541.1:c.*136C>T, XP_011528269.1:p.Arg344Ter, XP_011528273.1:p.Arg296Ter, 147960066, XP_011528268.1:p.Arg344Ter, XP_011528270.1:p.Arg344Ter, XM_005278354.1:c.730C>T, NC_000022.10:g.42523592G>A, NW_009646208.1:g.13156G>A, NG_008376.4:g.8221C>T, XM_011529967.1:c.1030C>T +PA166156177 rs72549348 PA128 CYP2D6 NC_000022.11:42127619 4 2 2 0 0 XP_011528270.1:p.Glu334Ala, XP_011528272.1:p.Glu283Ala, NC_000022.11:g.42127619T>G, XP_011528273.1:p.Glu286Ala, XM_011529969.1:c.857A>C, NG_008376.4:g.8192=, XM_011529968.1:c.1001A>C, XM_011547750.1:c.857A>C, XP_005278410.1:p.Glu286Ala, NG_008376.4:g.8192A>C, XM_011529966.1:c.1001A>C, XM_011529971.1:c.857A>C, XP_011546053.1:p.Glu262Ala, XM_011529970.1:c.848A>C, XM_011547751.1:c.785A>C, NP_000097.3:p.Glu334=, 72549348, XM_011529972.1:c.859A>C, XP_011546052.1:p.Glu286Ala, XM_011529967.1:c.1001A>C, NW_009646208.1:g.13185T>G, XP_011528268.1:p.Glu334Ala, XM_011547541.1:c.*107A>C, NC_000022.10:g.42523621T>G, NC_000022.10:g.42523621=, NP_000097.3:p.Glu334Ala, XM_005278354.1:c.701A>C, XM_005278353.1:c.857A>C, XR_952745.1:n.2016A>C, rs72549348, NG_008376.3:g.7373=, NP_001020332.2:p.Glu283Ala, NT_187682.1:g.49960T>G, NM_001025161.2:c.848A>C, XM_005278354.3:c.701A>C, XP_011528274.1:p.Arg287=, NC_000022.11:g.42127619=, XM_011548819.1:c.*107A>C, XP_011528269.1:p.Glu334Ala, NG_008376.3:g.7373A>C, NM_000106.5:c.1001A>C, NW_004504305.1:g.49946T>G, XP_005278411.1:p.Glu234Ala, XP_011528271.1:p.Glu286Ala +PA166156178 rs72549349 PA128 CYP2D6 NC_000022.11:42127841 1 1 1 0 0 NC_000022.11:g.42127841=, NT_187682.1:g.50182C>G, XM_011547750.1:c.841+1G>C, XM_005278354.3:c.685+1G>A, XM_011547750.1:c.841+1G>A, NC_000022.10:g.42523843C>G, XM_005278354.3:c.685+1G>C, XM_011547541.1:c.686G>C, XM_011547541.1:c.686G>A, NG_008376.4:g.7970=, NT_187682.1:g.50182C>T, NW_009646208.1:g.13407C>G, 72549349, NW_009646208.1:g.13407C>T, XM_011529970.1:c.832+1G>C, NC_000022.10:g.42523843C>T, XM_011529970.1:c.832+1G>A, XM_011548819.1:c.686G>A, XM_011548819.1:c.686G>C, rs72549349, NC_000022.11:g.42127841C>T, NM_001025161.2:c.832+1G>A, XM_011529969.1:c.841+1G>A, NC_000022.11:g.42127841C>G, NM_001025161.2:c.832+1G>C, XM_011529969.1:c.841+1G>C, XR_952745.1:n.2001-207G>A, XM_011529971.1:c.841+1G>C, XM_011529971.1:c.841+1G>A, XM_011547751.1:c.769+1G>C, NM_000106.5:c.985+1G>A, XM_011547751.1:c.769+1G>A, NM_000106.5:c.985+1G>C, XP_011547121.1:p.Arg229Pro, NW_004504305.1:g.50168C>T, XM_005278354.1:c.685+1G>C, XM_005278354.1:c.685+1G>A, XM_011529972.1:c.844-207G>A, XM_011529972.1:c.844-207G>C, XR_952745.1:n.2001-207G>C, NC_000022.10:g.42523843=, NW_004504305.1:g.50168C>G, XP_011545843.1:p.Arg229His, XM_011529966.1:c.985+1G>A, XM_011529966.1:c.985+1G>C, XM_011529968.1:c.985+1G>A, XM_011529968.1:c.985+1G>C, XM_011529967.1:c.985+1G>C, XM_011529967.1:c.985+1G>A, NG_008376.3:g.7151=, NG_008376.3:g.7151G>A, NG_008376.3:g.7151G>C, NG_008376.4:g.7970G>C, NG_008376.4:g.7970G>A, XM_005278353.1:c.841+1G>C, XP_011545843.1:p.Arg229Pro, XP_011547121.1:p.Arg229His, XM_005278353.1:c.841+1G>A +PA166156179 rs72549351 PA128 CYP2D6 NC_000022.11:42128199_42128206 1 1 1 0 0 XP_011528270.1:p.Thr272Argfs, XP_011528272.1:p.Thr221Argfs, rs72549351, XP_011545843.1:p.Thr172Argfs, XM_011547541.1:c.513_516delGACT, NP_001020332.2:p.Thr221Argfs, XM_011529970.1:c.660_663delGACT, XM_011547756.1:c.-1834_-1831del, XM_011547750.1:c.669_672delGACT, NC_000022.10:g.42524201_42524208=, XM_011548819.1:c.513_516delGACT, XP_011528273.1:p.Thr224Argfs, XM_011529968.1:c.813_816delGACT, XM_011529966.1:c.813_816delGACT, NP_000097.3:p.Thr272fs, NW_009646208.1:g.13767_13770delAGTC, XM_005278354.3:c.513_516delGACT, XM_011547751.1:c.597_600delGACT, NM_001025161.2:c.660_663delGACT, XM_011529971.1:c.669_672delGACT, NP_000097.3:p.Leu271_Glu273=, XP_011547121.1:p.Thr172Argfs, 72549351, XM_011529969.1:c.669_672delGACT, NG_008376.3:g.6788_6791delGACT, XR_430455.2:n.-1670_-1667del, XP_011528269.1:p.Thr272Argfs, NM_000106.5:c.813_816delGACT, NT_187682.1:g.50542_50545delAGTC, NC_000022.10:g.42524203_42524206delAGTC, XM_005278354.1:c.513_516delGACT, XP_011546053.1:p.Thr200Argfs, NG_008376.4:g.7605CTGA[1], NP_000097.3:p.Thr272Argfs, XM_011529967.1:c.813_816delGACT, XP_011528268.1:p.Thr272Argfs, XR_952745.1:n.1970_1973delGACT, NG_008376.4:g.7605_7612=, XP_011546052.1:p.Thr224Argfs, XM_005278353.1:c.669_672delGACT, NC_000022.10:g.42524201TCAG[1], XP_011528274.1:p.Thr272Argfs, NC_000022.11:g.42128199TCAG[1], NC_000022.11:g.42128199_42128206=, XP_005278411.1:p.Thr172Argfs, NW_004504305.1:g.50528_50531delAGTC, XP_005278410.1:p.Thr224Argfs, NC_000022.11:g.42128201_42128204delAGTC, XM_011529972.1:c.813_816delGACT, XP_011528271.1:p.Thr224Argfs +PA166182978 rs72549352 PA128 CYP2D6 NC_000022.11:42128212_42128215 11 3 3 0 0 rs72549352, NC_000022.10:g.42524214_42524220=, NG_008376.3:g.6774_6780=, NG_008376.3:g.6780dup, NC_000022.11:g.42128218del, NC_000022.10:g.42524220del, NP_000097.3:p.Pro267_Arg269=, NC_000022.11:g.42128218dup, NG_008376.4:g.7599del, 72549352, NG_008376.4:g.7593_7599=, 750529715, NC_000022.10:g.42524220dup, NC_000022.11:g.42128212_42128218=, NG_008376.4:g.7599dup, NP_000097.3:p.Arg269fs, NG_008376.3:g.6780del +PA166156266 rs72549353 PA128 CYP2D6 NC_000022.11:42128251_42128254 1 0 0 0 0 rs72549353, NT_187682.1:g.50590_50593delAGTT, XM_011529967.1:c.765_768delAACT, NP_001020332.2:p.Thr205Serfs, XM_011529970.1:c.612_615delAACT, XP_011545843.1:p.Thr156Serfs, XR_952745.1:n.1922_1925delAACT, XP_011528270.1:p.Thr256Serfs, NC_000022.10:g.42524251_42524256=, XP_011528272.1:p.Thr205Serfs, XR_430455.2:n.-1622_-1619delAGTT, XM_005278354.1:c.465_468delAACT, XP_011528274.1:p.Thr256Serfs, NM_001025161.2:c.612_615delAACT, NP_000097.3:p.Leu255_Thr256=, NC_000022.10:g.42524251_42524254delAGTT, XP_011528273.1:p.Thr208Serfs, NG_008376.4:g.7559_7562del, XP_011547121.1:p.Thr156Serfs, NM_000106.5:c.765_768delAACT, XM_011547541.1:c.465_468delAACT, NP_000097.3:p.Thr256Serfs, NG_008376.3:g.6738_6743=, 72549353, XM_005278353.1:c.621_624delAACT, NC_000022.10:g.42524253_42524256del, NW_004504305.1:g.50576_50579delAGTT, XP_011528269.1:p.Thr256Serfs, XM_005278354.3:c.465_468delAACT, XM_011547756.1:c.-1786_-1783delAGTT, NC_000022.11:g.42128249_42128254=, XM_011529968.1:c.765_768delAACT, XM_011529966.1:c.765_768delAACT, XM_011529969.1:c.621_624delAACT, XM_011529972.1:c.765_768delAACT, XM_011548819.1:c.465_468delAACT, NG_008376.3:g.6740_6743delAACT, XP_011528268.1:p.Thr256Serfs, XP_011546052.1:p.Thr208Serfs, XM_011529971.1:c.621_624delAACT, NC_000022.11:g.42128251_42128254del, NG_008376.4:g.7557_7562=, NC_000022.11:g.42128249_42128252delAGTT, NG_008376.3:g.6740_6743del, XP_005278411.1:p.Thr156Serfs, NW_009646208.1:g.13815_13818delAGTT, NP_000097.3:p.Thr256fs, XP_005278410.1:p.Thr208Serfs, XM_011547751.1:c.549_552delAACT, 758320086, XP_011546053.1:p.Thr184Serfs, XM_011547750.1:c.621_624delAACT, XP_011528271.1:p.Thr208Serfs +PA166156180 rs72549354 PA128 CYP2D6 NC_000022.11:42128818 2 0 0 0 0 XM_011529971.1:c.488_489insG, XM_011529970.1:c.479_480insG, XM_011547756.1:c.-1218_-1217insC, rs72549354, XM_005278354.3:c.332_333insG, NP_000097.3:p.Leu213Thrfs, XM_011547751.1:c.416_417insG, NM_000106.5:c.632_633insG, XR_430455.2:n.-1054_-1053insC, NC_000022.11:g.42128817dup, NC_000022.10:g.42524819_42524820insC, XP_011528268.1:p.Leu213Thrfs, XM_011529972.1:c.632_633insG, XP_011528274.1:p.Leu213Thrfs, NG_008376.3:g.6174_6175insG, NW_004504305.1:g.51144_51145insC, NC_000022.11:g.42128817_42128818insC, NM_001025161.2:c.479_480insG, NP_000097.3:p.Leu213fs, XM_005278353.1:c.488_489insG, XM_011529968.1:c.632_633insG, XP_005278410.1:p.Leu165Thrfs, XP_011547121.1:p.Leu113Thrfs, 72549354, XP_011528271.1:p.Leu165Thrfs, NC_000022.10:g.42524817_42524819=, NC_000022.10:g.42524819dup, XM_011548819.1:c.332_333insG, NP_001020332.2:p.Leu162Thrfs, XM_011547541.1:c.332_333insG, XP_011528269.1:p.Leu213Thrfs, XP_011545843.1:p.Leu113Thrfs, XR_952745.1:n.1789_1790insG, XM_011529966.1:c.632_633insG, XM_011547750.1:c.488_489insG, NC_000022.11:g.42128815_42128817=, XP_011528270.1:p.Leu213Thrfs, XM_011529969.1:c.488_489insG, NG_008376.3:g.6175_6177=, XM_005278354.1:c.332_333insG, XP_011528273.1:p.Leu165Thrfs, NT_187682.1:g.51158_51159insC, NG_008376.3:g.6177dup, XP_011546052.1:p.Leu165Thrfs, NG_008376.4:g.6996dup, NG_008376.4:g.6994_6996=, XP_011546053.1:p.Leu141Thrfs, XP_005278411.1:p.Leu113Thrfs, NW_009646208.1:g.14383_14384insC, XP_011528272.1:p.Leu162Thrfs, NP_000097.3:p.Glu211_Gly212=, XM_011529967.1:c.632_633insG +PA166156257 rs72549356 PA128 CYP2D6 NC_000022.11:42128928_42128942 7 4 4 0 0 XR_430455.2:n.-944_-943insGGGGCGAAA, rs72549356, XP_011546052.1:p.Pro126_Asn127insPheArgProPheArgPro, NW_009646208.1:g.14493_14494insGGGGCGAAA, XP_011546053.1:p.Pro102_Asn103insPheArgPro, NP_001020332.2:p.Pro123_Asn124insPheArgPro, NG_008376.4:g.6875TTTCGCCCC[4], XM_005278354.1:c.222_223insTTTCGCCCCTTTCGCCCC, XM_011547750.1:c.378_379insTTTCGCCCCTTTCGCCCC, XP_011528268.1:p.Pro174_Asn175insPheArgPro, XP_011545843.1:p.Pro74_Asn75insPheArgPro, NP_000097.3:p.Phe172_Pro174dup, XM_005278353.1:c.378_379insTTTCGCCCCTTTCGCCCC, NC_000022.10:g.42524929_42524930insGGGGCGAAAGGGGCGAAA, XP_011528273.1:p.Pro126_Asn127insPheArgProPheArgPro, XM_011529968.1:c.522_523insTTTCGCCCC, NW_009646208.1:g.14493_14494insGGGGCGAAAGGGGCGAAA, XR_952745.1:n.1679_1680insTTTCGCCCCTTTCGCCCC, NG_008376.4:g.6875TTTCGCCCC[3], XP_011528270.1:p.Pro174_Asn175insPheArgPro, NM_001025161.2:c.369_370insTTTCGCCCCTTTCGCCCC, XM_011529970.1:c.369_370insTTTCGCCCCTTTCGCCCC, NP_000097.3:p.Pro174_Asn175insPheArgProPheArgPro, 72549356, NC_000022.11:g.42128928_42128942=, XP_011528273.1:p.Pro126_Asn127insPheArgPro, NG_008376.4:g.6869_6883=, NM_000106.5:c.522_523insTTTCGCCCC, XP_011528274.1:p.Pro174_Asn175insPheArgProPheArgPro, XM_011547750.1:c.378_379insTTTCGCCCC, XP_011528270.1:p.Pro174_Asn175insPheArgProPheArgPro, XM_005278354.1:c.222_223insTTTCGCCCC, XR_430455.2:n.-944_-943insGGGGCGAAAGGGGCGAAA, XM_011529969.1:c.378_379insTTTCGCCCCTTTCGCCCC, XM_011529967.1:c.522_523insTTTCGCCCC, XP_005278411.1:p.Pro74_Asn75insPheArgProPheArgPro, NW_004504305.1:g.51254_51255insGGGGCGAAAGGGGCGAAA, NC_000022.10:g.42524936_42524944dup, XM_011529971.1:c.378_379insTTTCGCCCC, XP_011547121.1:p.Pro74_Asn75insPheArgProPheArgPro, XM_005278354.3:c.222_223insTTTCGCCCCTTTCGCCCC, XP_011528269.1:p.Pro174_Asn175insPheArgPro, XM_005278354.3:c.222_223insTTTCGCCCC, NT_187682.1:g.51268_51269insGGGGCGAAA, XM_011529966.1:c.522_523insTTTCGCCCCTTTCGCCCC, NP_000097.3:p.Arg170_Pro174=, XP_011528271.1:p.Pro126_Asn127insPheArgPro, XP_011528272.1:p.Pro123_Asn124insPheArgPro, XP_011545843.1:p.Pro74_Asn75insPheArgProPheArgPro, NC_000022.11:g.42128927_42128928insGGGGCGAAAGGGGCGAAA, XM_011529966.1:c.522_523insTTTCGCCCC, NP_001020332.2:p.Pro123_Asn124insPheArgProPheArgPro, XP_005278410.1:p.Pro126_Asn127insPheArgPro, XP_011546052.1:p.Pro126_Asn127insPheArgPro, NC_000022.11:g.42128927_42128928insGGGGCGAAA, XP_005278411.1:p.Pro74_Asn75insPheArgPro, NM_001025161.2:c.369_370insTTTCGCCCC, XM_011529972.1:c.522_523insTTTCGCCCC, XM_011547756.1:c.-1108_-1107insGGGGCGAAAGGGGCGAAA, XP_011546053.1:p.Pro102_Asn103insPheArgProPheArgPro, XP_011528271.1:p.Pro126_Asn127insPheArgProPheArgPro, XP_005278410.1:p.Pro126_Asn127insPheArgProPheArgPro, NP_000097.3:p.172FRP[4], NC_000022.11:g.42128934AAAGGGGCG[4], XM_011529967.1:c.522_523insTTTCGCCCCTTTCGCCCC, NC_000022.11:g.42128934_42128942dup, NP_000097.3:p.Pro174_Asn175insPheArgPro, NG_008376.3:g.6064_6065insTTTCGCCCC, NC_000022.11:g.42128934AAAGGGGCG[3], XM_011529972.1:c.522_523insTTTCGCCCCTTTCGCCCC, XM_011547751.1:c.306_307insTTTCGCCCC, NC_000022.10:g.42524936AAAGGGGCG[4], XM_011547751.1:c.306_307insTTTCGCCCCTTTCGCCCC, XP_011528274.1:p.Pro174_Asn175insPheArgPro, NG_008376.3:g.6064_6065insTTTCGCCCCTTTCGCCCC, XP_011547121.1:p.Pro74_Asn75insPheArgPro, NT_187682.1:g.51268_51269insGGGGCGAAAGGGGCGAAA, XM_011529970.1:c.369_370insTTTCGCCCC, NM_000106.5:c.522_523insTTTCGCCCCTTTCGCCCC, XM_011547541.1:c.222_223insTTTCGCCCCTTTCGCCCC, XR_952745.1:n.1679_1680insTTTCGCCCC, XM_011529968.1:c.522_523insTTTCGCCCCTTTCGCCCC, NC_000022.10:g.42524930_42524944=, XM_011547541.1:c.222_223insTTTCGCCCC, XP_011528269.1:p.Pro174_Asn175insPheArgProPheArgPro, NG_008376.4:g.6875_6883dup, NC_000022.10:g.42524936AAAGGGGCG[3], XM_011548819.1:c.222_223insTTTCGCCCCTTTCGCCCC, XM_005278353.1:c.378_379insTTTCGCCCC, XM_011529971.1:c.378_379insTTTCGCCCCTTTCGCCCC, NW_004504305.1:g.51254_51255insGGGGCGAAA, XM_011547756.1:c.-1108_-1107insGGGGCGAAA, 553846709, NC_000022.10:g.42524929_42524930insGGGGCGAAA, XP_011528268.1:p.Pro174_Asn175insPheArgProPheArgPro, XP_011528272.1:p.Pro123_Asn124insPheArgProPheArgPro, NP_000097.3:p.172FRP[3], XM_011529969.1:c.378_379insTTTCGCCCC, XM_011548819.1:c.222_223insTTTCGCCCC +PA166156181 rs72549358 PA128 CYP2D6 NC_000022.11:42130773 2 1 1 0 0 XM_011529966.1:c.19G>A, XM_011529969.1:c.37+524G>A, XM_011547541.1:c.-1535G>A, XM_011547750.1:c.37+524G>A, NG_055460.1:g.58=, rs72549358, XM_011529970.1:c.19G>A, XM_011529968.1:c.19G>A, NG_008376.4:g.5038=, XR_952539.1:n.-1381C>T, NM_001025161.2:c.19G>A, XM_005278353.1:c.19G>A, XP_011528274.1:p.Val7Met, NW_009646208.1:g.16339C>T, XM_005278354.3:c.-1535G>A, NM_000106.5:c.19G>A, NT_187682.1:g.53114C>T, XP_011528270.1:p.Val7Met, XP_011528272.1:p.Val7Met, NG_008376.3:g.4219G>A, XR_430455.2:n.328+85C>T, NG_008376.3:g.4219=, XM_011529967.1:c.19G>A, XM_011547756.1:c.42+550C>T, XM_011529971.1:c.37+524G>A, XR_952745.1:n.1176G>A, XP_005278410.1:p.Val7Met, NC_000022.11:g.42130773=, NC_000022.11:g.42130773C>T, NP_001020332.2:p.Val7Met, NC_000022.10:g.42526775=, NC_000022.10:g.42526775C>T, XM_005278354.1:c.-1535G>A, XR_952536.1:n.-1670C>T, NP_000097.3:p.Val7=, NW_004504305.1:g.53100C>T, 72549358, XR_952538.1:n.-1670C>T, XM_011547751.1:c.-1195G>A, XP_011528268.1:p.Val7Met, XP_011528269.1:p.Val7Met, XM_011548819.1:c.-1535G>A, XR_952537.1:n.-1670C>T, NG_055460.1:g.58C>T, NG_008376.4:g.5038G>A, NP_000097.3:p.Val7Met, XM_011529972.1:c.19G>A +PA166313821 rs72549402 PA374 ABCB11 NC_000002.12:168972040 0 0 0 0 1 NC_000002.12:g.168972040T>C, NC_000002.11:g.169828550T>C, NP_003733.2:p.Asp482=, NC_000002.11:g.169828550=, NP_003733.2:p.Asp482Gly, 72549402, NC_000002.12:g.168972040=, rs72549402, NG_007374.2:g.64357A>G, NG_007374.2:g.64357= +PA166155521 rs72549435 PA121 CYP2A6 NC_000019.10:40849833 7 3 2 0 0 NP_000753.3:p.Val110Ile, NC_000019.10:g.40849833C>G, NC_000019.10:g.40849833=, XM_005258568.1:c.190+404G>C, NC_000019.10:g.40849833C>A, NC_000019.9:g.41355738=, NM_000762.5:c.328G>C, rs72549435, NC_000019.9:g.41355738C>A, NG_008377.1:g.5615G>C, NG_008377.1:g.5615G>A, NP_000753.3:p.Val110Phe, NC_000019.10:g.40849833C>T, NC_000019.9:g.41355738C>G, NP_000753.3:p.Val110=, 72549435, NC_000019.9:g.41355738C>T, NG_008377.1:g.5615=, NG_008377.1:g.5615G>T, NP_000753.3:p.Val110Leu +PA166155900 rs72551330 PA37174,PA37183,PA419 UGT1A10,UGT1A8,UGT1A9 NC_000002.12:233672032 5 2 0 0 0 NC_000002.12:g.233672032T>C, NC_000002.12:g.233672032T>A, NM_021027.2:c.98T>C, NP_066307.1:p.Met33Thr, NG_002601.2:g.87289T>A, rs72551330, NG_002601.2:g.87289T>C, NG_002601.2:g.87289=, NM_019075.2:c.855+34655T>C, NP_066307.1:p.Met33Lys, NC_000002.11:g.234580678=, NM_019076.4:c.855+53470T>C, 72551330, NC_000002.12:g.233672032=, XR_241241.1:n.184T>C, NP_066307.1:p.Met33=, NC_000002.11:g.234580678T>C, NC_000002.11:g.234580678T>A +PA166155902 rs72551344 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233760985 1 1 0 0 0 NM_205862.1:c.61-6049T>G, NM_000463.2:c.698T>G, 72551344, NG_033238.1:g.5713=, NM_019078.1:c.868-6049T>G, NM_019077.2:c.856-6049T>G, NC_000002.11:g.234669631=, rs72551344, NM_021027.2:c.856-6049T>G, NC_000002.12:g.233760985T>G, NG_033238.1:g.5713T>G, NC_000002.11:g.234669631T>G, XR_241239.1:n.720T>G, NM_001072.3:c.862-6049T>G, NM_019076.4:c.856-6049T>G, XR_241238.1:n.924-6049T>G, NG_002601.2:g.176242T>G, NC_000002.12:g.233760985=, XR_241240.1:n.1023-6049T>G, NP_000454.1:p.Leu233=, NM_019093.2:c.868-6049T>G, NP_000454.1:p.Leu233Arg, XR_241241.1:n.942-6049T>G, NM_019075.2:c.856-6049T>G, NG_002601.2:g.176242=, NM_007120.2:c.868-6049T>G +PA166156471 rs72551372 PA378 NR1I2 NC_000003.12:119811625 1 0 0 0 0 NG_011856.1:g.36142G>A, NM_033013.2:c.418G>A, rs72551372, NM_003889.3:c.418G>A, XM_005247866.1:c.253G>A, NC_000003.11:g.119530472G>A, NM_022002.2:c.535G>A, NG_011856.1:g.36142=, NC_000003.11:g.119530472=, NP_148934.1:p.Val140Met, XP_005247923.1:p.Val85Met, 72551372, NC_000003.12:g.119811625G>A, NP_003880.3:p.Val140=, NP_003880.3:p.Val140Met, NP_071285.1:p.Val179Met, NC_000003.12:g.119811625= +PA166156472 rs72551374 PA378 NR1I2 NC_000003.12:119811695 1 0 0 0 0 NP_071285.1:p.Asp202Gly, rs72551374, NM_022002.2:c.605A>G, NP_148934.1:p.Asp163Gly, NC_000003.12:g.119811695A>G, NC_000003.11:g.119530542=, NP_003880.3:p.Asp163=, NC_000003.11:g.119530542A>G, 72551374, NG_011856.1:g.36212=, NC_000003.12:g.119811695=, NP_003880.3:p.Asp163Gly, NM_033013.2:c.488A>G, XP_005247923.1:p.Asp108Gly, NG_011856.1:g.36212A>G, XM_005247866.1:c.323A>G, NM_003889.3:c.488A>G +PA166154299 rs725518 PA298 RRM1 NC_000011.10:4107615 1 0 0 0 0 NC_000011.10:g.4107615G>A, XM_011520277.1:c.96+80G>A, NC_000011.10:g.4107615=, rs725518, rs61333041, 17423023, rs386608733, NC_000011.9:g.4128845G>A, NM_001033.4:c.387+80G>A, NC_000011.9:g.4128845=, 61333041, XM_005253058.1:c.202+1476G>A, XM_005253059.1:c.96+80G>A, 386608733, NG_027992.2:g.17922G>A, NG_027992.2:g.17922=, rs17423023, NM_001033.3:c.387+80G>A, 725518, NM_001318064.1:c.96+80G>A +PA166155522 rs72552266 PA27101 CYP2A13 NC_000019.10:41089049 2 1 0 0 0 NP_000757.2:p.Arg101Ter, rs72552266, NC_000019.9:g.41594954C>G, NC_000019.10:g.41089049C>G, NG_007928.1:g.5587=, NG_007928.1:g.5587C>G, NC_000019.10:g.41089049C>T, 72552266, NC_000019.9:g.41594954C>T, NC_000019.9:g.41594954=, NC_000019.10:g.41089049=, NM_000766.4:c.301C>T, NP_000757.2:p.Arg101=, NG_007928.1:g.5587C>T, NP_000757.2:p.Arg101Gly +PA166154192 rs72552267 PA124 CYP2C19 NC_000010.11:94775453 11 3 3 0 0 rs72552267, NC_000010.11:g.94775453G>A, NP_000760.1:p.Arg132=, NG_008384.2:g.17748G>A, NP_000760.1:p.Arg132Gln, NG_008384.3:g.17773=, NC_000010.10:g.96535210G>A, NM_000769.1:c.395G>A, NG_008384.3:g.17773G>A, NC_000010.11:g.94775453=, NC_000010.10:g.96535210=, 72552267, NM_000769.2:c.395G>A, 72558184 +PA166156694 rs72552713 PA390 ABCG2 NC_000004.12:88131805 3 1 0 0 0 NC_000004.12:g.88131805=, NG_032067.2:g.104518=, NP_004818.2:p.Gln126=, XM_005263356.1:c.376C>T, NG_032067.2:g.104518C>T, NC_000004.11:g.89052957G>A, XP_005263412.1:p.Gln126Ter, 72552713, XM_005263355.2:c.376C>T, XM_005263354.1:c.376C>T, XP_005263413.1:p.Gln126Ter, XP_011530722.1:p.Gln126Ter, XM_011532420.1:c.376C>T, XP_005263411.1:p.Gln126Ter, NC_000004.11:g.89052957=, NM_001257386.1:c.376C>T, NP_004818.2:p.Gln126Ter, XM_005263355.1:c.376C>T, NM_004827.2:c.376C>T, NC_000004.12:g.88131805G>A, NP_001244315.1:p.Gln126Ter, XM_005263354.2:c.376C>T, XM_005263356.2:c.376C>T, rs72552713 +PA166157210 rs72552736 PA356 TPMT NC_000006.12:18130725 4 0 0 0 0 NC_000006.11:g.18130956A>T, NG_012137.2:g.29419T>G, NM_000367.3:c.681T>A, XP_011513141.1:p.His212Gln, NC_000006.11:g.18130956=, 72552736, NP_000358.1:p.His227Gln, NC_000006.12:g.18130725A>T, XM_011514840.1:c.612T>G, NM_000367.3:c.681T>G, NG_012137.2:g.29419T>C, XM_011514840.1:c.612T>A, NC_000006.12:g.18130725=, NG_012137.2:g.29419T>A, XP_011513142.1:p.His204Gln, NC_000006.11:g.18130956A>C, XM_011514839.1:c.636T>A, NP_000358.1:p.His227=, NC_000006.11:g.18130956A>G, rs72552736, NC_000006.12:g.18130725A>C, NG_012137.2:g.29419=, XM_011514839.1:c.636T>G, NC_000006.12:g.18130725A>G +PA166157211 rs72552737 PA356 TPMT NC_000006.12:18139027 3 0 0 0 0 NM_000367.3:c.430G>C, NP_000358.1:p.Gly144Arg, XP_011513141.1:p.Gly144Arg, NG_012137.2:g.21117=, NC_000006.12:g.18139027C>G, XM_011514840.1:c.361G>C, NC_000006.11:g.18139258=, XM_011514839.1:c.430G>C, NC_000006.11:g.18139258C>G, XP_011513142.1:p.Gly121Arg, NP_000358.1:p.Gly144=, NG_012137.2:g.21117G>C, 72552737, NC_000006.12:g.18139027=, rs72552737 +PA166157212 rs72552738 PA356 TPMT NC_000006.12:18139689 2 0 0 0 0 NM_000367.3:c.395G>A, NC_000006.11:g.18139920C>T, NP_000358.1:p.Cys132Tyr, XM_011514839.1:c.395G>A, XM_011514840.1:c.326G>A, 72552738, XP_011513141.1:p.Cys132Tyr, NC_000006.12:g.18139689=, NC_000006.12:g.18139689C>T, NC_000006.11:g.18139920=, XP_011513142.1:p.Cys109Tyr, NG_012137.2:g.20455=, rs72552738, NP_000358.1:p.Cys132=, NG_012137.2:g.20455G>A +PA166157213 rs72552739 PA356 TPMT NC_000006.12:18143670 1 0 0 0 0 XM_011514840.1:c.223G>T, NP_000358.1:p.Glu98Ter, NG_012137.2:g.16474=, NC_000006.11:g.18143901=, 72552739, NP_000358.1:p.Glu98=, NM_000367.3:c.292G>T, XM_011514839.1:c.292G>T, NC_000006.12:g.18143670=, NC_000006.12:g.18143670C>A, XP_011513141.1:p.Glu98Ter, XP_011513142.1:p.Glu75Ter, rs72552739, NG_012137.2:g.16474G>T, NC_000006.11:g.18143901C>A +PA166157214 rs72552740 PA356 TPMT NC_000006.12:18147910 4 0 0 0 0 rs72552740, NG_012137.2:g.12234T>C, NM_000367.3:c.146T>C, NP_000358.1:p.Leu49Ser, NC_000006.12:g.18147910=, XP_011513141.1:p.Leu49Ser, XM_011514839.1:c.146T>C, XP_011513142.1:p.Leu26Ser, NC_000006.12:g.18147910A>G, NG_012137.2:g.12234=, 72552740, XM_011514840.1:c.77T>C, NC_000006.11:g.18148141A>G, NP_000358.1:p.Leu49=, NC_000006.11:g.18148141= +PA166157215 rs72552742 PA356 TPMT NC_000006.12:18149045 2 0 0 0 0 XM_011514840.1:c.-1A>T, XM_011514839.1:c.83A>T, rs72552742, NM_000367.3:c.83A>T, NC_000006.11:g.18149276=, XP_011513141.1:p.Glu28Val, NC_000006.12:g.18149045=, NP_000358.1:p.Glu28=, 72552742, NC_000006.11:g.18149276T>A, NC_000006.12:g.18149045T>A, NG_012137.2:g.11099=, NP_000358.1:p.Glu28Val, NG_012137.2:g.11099A>T +PA166157216 rs72552763 PA329 SLC22A1 NC_000006.12:160139851_160139853 17 1 0 0 0 rs72552763, XM_005267102.1:c.1260_1262delGAT, NC_000006.12:g.160139851_160139853del, XM_006715552.1:c.1260_1262delGAT, XM_005267104.3:c.684_686delGAT, rs202220802, XP_005267161.1:p.Met228del, XP_005267160.1:p.Met420del, NP_003048.1:p.Met420_Ile421=, XM_011536074.1:c.684_686delGAT, NP_003048.1:p.Met420del, XM_005267105.1:c.684_686delGAT, XP_006715615.1:p.Met420del, NC_000006.11:g.160560883_160560885delGAT, NC_000006.12:g.160139851_160139853delGAT, XM_005267102.3:c.1260_1262delGAT, NC_000006.11:g.160560881_160560885=, XP_011534376.1:p.Met228del, NC_000006.11:g.160560883_160560885del, NC_000006.12:g.160139849_160139853=, NM_153187.1:c.1260_1262delGAT, XM_005267103.1:c.1260_1262delGAT, XP_005267162.1:p.Met228del, OCT1*2 (and part of *6), XP_005267159.1:p.Met420del, XM_005267105.3:c.684_686delGAT, NM_003057.2:c.1260_1262delGAT, 72552763, NP_694857.1:p.Met420del, XM_005267104.1:c.684_686delGAT +PA166157504 rs72552784 PA267 ABCB1 NC_000007.14:87516598 9 1 0 0 0 rs72552784, NC_000007.13:g.87145914C>T, NC_000007.13:g.87145914=, NC_000007.14:g.87516598C>T, NG_011513.1:g.201651G>A, NP_000918.2:p.Ala999Ser, NP_000918.2:p.Ala999Thr, NG_011513.1:g.201651=, NC_000007.13:g.87145914C>A, NP_000918.2:p.Ala999=, 72552784, NG_011513.1:g.201651G>T, NC_000007.14:g.87516598C>A, NM_000927.4:c.2995G>A, NC_000007.14:g.87516598= +PA166157505 rs72552791 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99676122 1 0 0 0 0 XM_005250169.1:c.128A>G, XM_011515846.1:c.-392A>G, XM_005250171.1:c.-314A>G, XM_006715859.2:c.158A>G, NR_033812.1:n.260A>G, NP_000768.1:p.Tyr53Cys, NM_001291830.1:c.128A>G, XR_927383.1:n.283A>G, XM_011515845.1:c.-524A>G, 72552791, NM_000777.4:c.158A>G, XM_005250173.1:c.-392A>G, NP_001278759.1:p.Tyr43Cys, NR_033809.1:n.520A>G, NR_033811.1:n.260A>G, NR_033810.1:n.628A>G, NM_001190484.2:c.158A>G, XM_005250170.1:c.-418A>G, XP_005250226.1:p.Tyr43Cys, NR_033807.2:n.656A>G, XR_927402.1:n.1467-47353T>C, rs72552791, NR_033808.1:n.628A>G, XM_005250172.1:c.-332A>G, XM_011515844.1:c.-290A>G, NC_000007.14:g.99676122=, NG_007938.1:g.8877=, NM_001291829.1:c.-314A>G, NP_001177413.1:p.Tyr53Cys, NP_000768.1:p.Tyr53=, NG_007938.1:g.8877A>G, NC_000007.13:g.99273745T>C, NC_000007.13:g.99273745=, XM_011515843.1:c.-332A>G, XM_011515847.1:c.-632A>G, XM_005250198.1:c.806-1082T>C, XP_006715922.1:p.Tyr53Cys, NC_000007.14:g.99676122T>C +PA166157506 rs72552798 PA130 CYP3A4 NC_000007.14:99769781 13 1 1 0 0 NC_000007.14:g.99769781=, XM_011515842.1:c.508G>A, XP_011514143.1:p.Val170Ile, NM_001202855.2:c.508G>A, NP_059488.2:p.Val170Ile, NC_000007.14:g.99769781C>T, NG_008421.1:g.19405=, NP_001189784.1:p.Val170Ile, NC_000007.13:g.99367404C>T, NP_059488.2:p.Val170=, 72552798, XM_011515841.1:c.508G>A, NM_017460.5:c.508G>A, XP_011514144.1:p.Val170Ile, NC_000007.13:g.99367404=, rs72552798, NG_008421.1:g.19405G>A +PA166157507 rs72552799 PA130 CYP3A4 NC_000007.14:99770165 11 2 2 0 0 NC_000007.14:g.99770165C>T, XP_011514144.1:p.Arg130Gln, NC_000007.14:g.99770165=, NC_000007.13:g.99367788C>T, NP_001189784.1:p.Arg130Gln, XM_011515842.1:c.389G>A, NP_059488.2:p.Arg130=, 72552799, NM_017460.5:c.389G>A, NG_008421.1:g.19021G>A, NC_000007.14:g.99770165C>G, NG_008421.1:g.19021=, NG_008421.1:g.19021G>C, NP_059488.2:p.Arg130Gln, NC_000007.13:g.99367788=, NC_000007.13:g.99367788C>G, XM_011515841.1:c.389G>A, NP_059488.2:p.Arg130Pro, NM_001202855.2:c.389G>A, rs72552799, XP_011514143.1:p.Arg130Gln +PA166157681 rs72554615 PA18 NAT2 NC_000008.11:18400114 1 0 0 0 0 NM_000015.2:c.111T>C, NC_000008.11:g.18400114T>C, NG_012246.1:g.13870=, XM_011544358.1:c.111T>C, NC_000008.11:g.18400114=, XP_011542660.1:p.Phe37=, NG_012246.1:g.13870T>C, NC_000008.10:g.18257624=, NC_000008.10:g.18257624T>C, NP_000006.2:p.Phe37=, rs72554615, 72554615 +PA166157682 rs72554616 PA18 NAT2 NC_000008.11:18400437 1 0 0 0 0 NG_012246.1:g.14193=, NP_000006.2:p.Gln145Pro, 72554616, NM_000015.2:c.434A>C, NC_000008.11:g.18400437=, XP_011542660.1:p.Gln145Pro, NG_012246.1:g.14193A>C, NC_000008.11:g.18400437A>C, rs72554616, XM_011544358.1:c.434A>C, NP_000006.2:p.Gln145=, NC_000008.10:g.18257947=, NC_000008.10:g.18257947A>C +PA166157888 rs72554665 PA28469 G6PD NC_000023.11:154532269 14 2 2 0 0 NG_009015.2:g.20304G>A, rs72554665, NG_009015.2:g.20304G>C, XM_005274658.1:c.1379G>C, XM_005274657.1:c.1469G>C, XM_005277834.1:c.1379G>C, XM_005277833.1:c.1469G>T, XP_005274714.1:p.Arg490Leu, NG_009015.2:g.20304=, NM_000402.4:c.1466G>C, NW_003871103.3:g.1966248C>A, XM_005274658.2:c.1379G>T, XP_005274714.1:p.Arg490Pro, XP_005277890.1:p.Arg490Leu, NC_000023.10:g.153760484C>T, XP_005277891.1:p.Arg460Pro, NC_000023.11:g.154532269C>T, NP_001035810.1:p.Arg459Pro, NC_000023.11:g.154532269=, XM_005274657.2:c.1469G>C, NP_000393.4:p.Arg489His, NM_001042351.2:c.1376G>T, NW_003871103.3:g.1966248C>G, NC_000023.11:g.154532269C>A, XM_005274658.2:c.1379G>C, XM_011531132.1:c.*498G>T, XP_005277890.1:p.Arg490Pro, XP_005277891.1:p.Arg460Leu, NC_000023.10:g.153760484C>G, NP_000393.4:p.Arg489Leu, XP_005274715.1:p.Arg460Pro, NP_001035810.1:p.Arg459Leu, NM_001042351.2:c.1376G>C, XM_005274657.2:c.1469G>T, NC_000023.11:g.154532269C>G, NG_009015.2:g.20304G>T, NC_000023.10:g.153760484C>A, NC_000023.10:g.153760484=, 72554665, XM_011531132.1:c.*498G>C, NP_000393.4:p.Arg489Pro, XM_005274658.1:c.1379G>T, XM_005277834.1:c.1379G>T, XP_005274715.1:p.Arg460Leu, XM_005274657.1:c.1469G>T, XM_005277833.1:c.1469G>C, NP_000393.4:p.Arg489=, NM_000402.4:c.1466G>T +PA166157217 rs72556347 PA356 TPMT NC_000006.12:18132136 1 0 0 0 0 XP_011513142.1:p.Phe185Leu, rs72556347, NC_000006.11:g.18132367A>G, NG_012137.2:g.28008T>C, NG_012137.2:g.28008=, NM_000367.3:c.622T>C, NC_000006.12:g.18132136=, NC_000006.11:g.18132367=, NP_000358.1:p.Phe208=, 72556347, NP_000358.1:p.Phe208Leu, XM_011514840.1:c.553T>C, NC_000006.12:g.18132136A>G, XM_011514839.1:c.581-1356T>C +PA166256201 rs7255721 PA24537 ADAMTS10 NC_000019.10:8605046 1 0 0 0 0 NC_000019.10:g.8605046C>A, NG_011840.2:g.10657G>C, NP_112219.3:p.Ser134Thr, NP_112219.3:p.Ser134=, NC_000019.10:g.8605046=, NG_011840.2:g.10657G>T, rs7255721, 7255721, NC_000019.9:g.8669931G>C, NC_000019.9:g.8669931G>A, NG_011840.2:g.10657=, NP_112219.3:p.Ser134Ile, NC_000019.10:g.8605046C>G +PA166154193 rs72558186 PA124 CYP2C19 NC_000010.11:94781999 2 1 1 0 0 NC_000010.11:g.94781999=, NM_000769.2:c.819+2T>A, NC_000010.10:g.96541756=, NG_008384.3:g.24319T>A, NG_008384.3:g.24319T>C, NM_000769.2:c.819+2T>C, NG_008384.3:g.24319=, NC_000010.10:g.96541756T>A, NG_008384.2:g.24294T>A, rs72558186, NG_008384.2:g.24294T>C, NC_000010.11:g.94781999T>A, NM_000769.1:c.819+2T>C, NC_000010.11:g.94781999T>C, NM_000769.1:c.819+2T>A, 72558186, NC_000010.10:g.96541756T>C +PA166154194 rs72558187 PA126 CYP2C9 NC_000010.11:94941958 20 9 8 0 0 NG_008385.2:g.8801=, rs74052158, XP_005269632.1:p.Leu90Pro, NM_000771.3:c.269T>C, 74052158, NC_000010.10:g.96701715T>C, NC_000010.11:g.94941958T>C, XM_005269575.1:c.269T>C, NP_000762.2:p.Leu90Pro, NP_000762.2:p.Leu90=, rs72558187, NC_000010.10:g.96701715=, NC_000010.11:g.94941958=, NG_008385.1:g.8301=, NG_008385.2:g.8801T>C, 72558187, NG_008385.1:g.8301T>C +PA166154195 rs72558189 PA126 CYP2C9 NC_000010.11:94942234 7 2 2 0 0 NC_000010.10:g.96701991G>T, NG_008385.2:g.9077G>A, NG_008385.2:g.9077G>C, 73994288, NC_000010.11:g.94942234G>T, NC_000010.11:g.94942234=, rs73994288, NG_008385.2:g.9077=, NG_008385.1:g.8577G>T, NM_000771.3:c.374G>A, NG_008385.1:g.8577=, XM_005269575.1:c.374G>A, NC_000010.10:g.96701991=, NP_000762.2:p.Arg125Pro, NP_000762.2:p.Arg125=, XP_005269632.1:p.Arg125His, NC_000010.10:g.96701991G>C, NG_008385.2:g.9077G>T, NP_000762.2:p.Arg125Leu, NC_000010.11:g.94942234G>A, rs72558189, 72558189, NC_000010.11:g.94942234G>C, NG_008385.1:g.8577G>A, NC_000010.10:g.96701991G>A, NP_000762.2:p.Arg125His, NG_008385.1:g.8577G>C +PA166154197 rs72558192 PA126 CYP2C9 NC_000010.11:94972179 3 1 1 0 0 72558192, NG_008385.1:g.38522A>G, NP_000762.2:p.Thr299Ala, rs72558192, NP_000762.2:p.Thr299=, NC_000010.10:g.96731936=, NG_008385.2:g.39022A>G, NC_000010.10:g.96731936A>G, NG_008385.1:g.38522=, NC_000010.11:g.94972179=, NM_000771.3:c.895A>G, XM_005269575.1:c.895A>G, NG_008385.2:g.39022=, XP_005269632.1:p.Thr299Ala, NC_000010.11:g.94972179A>G +PA166154659 rs72559745 PA134865839 SLCO1B1 NC_000012.12:21176883 2 1 1 0 0 NC_000012.11:g.21329817A>G, NM_006446.4:c.467A>G, NC_000012.12:g.21176883=, NG_011745.1:g.50690A>G, 72559745, NC_000012.11:g.21329817=, NP_006437.3:p.Glu156Gly, rs72559745, NC_000012.12:g.21176883A>G, NG_011745.1:g.50690=, NP_006437.3:p.Glu156= +PA166176226 rs7259706 PA121 CYP2A6 NC_000019.10:40851715 1 0 0 0 0 NG_008377.1:g.3733G>C, NG_008377.1:g.3733G>A, NC_000019.9:g.41357620C>T, 12984525, NG_055456.1:g.1390=, 61402836, NC_000019.10:g.40851715C>G, 7259706, NC_000019.9:g.41357620C>G, rs7259706, NC_000019.10:g.40851715=, NC_000019.9:g.41357620=, NG_008377.1:g.3733=, NG_055456.1:g.1390C>G, NG_055456.1:g.1390C>T, NC_000019.10:g.40851715C>T +PA166155434 rs7259857 PA36627 CD70 NC_000019.10:6581704 1 0 0 0 0 NC_000019.10:g.6581704=, NC_000019.9:g.6581715=, NC_000019.9:g.6581715T>C, rs7259857, 7259857, 61465242, rs61465242, NC_000019.10:g.6581704T>C +PA166176219 rs7260629 PA121 CYP2A6 NC_000019.10:40851727 1 0 0 0 0 57683203, NG_055456.1:g.1402T>G, NG_008377.1:g.3721A>T, NG_055456.1:g.1402T>C, NC_000019.10:g.40851727T>G, 7260629, NC_000019.10:g.40851727T>A, NG_008377.1:g.3721A>G, NG_055456.1:g.1402=, NG_055456.1:g.1402T>A, NC_000019.10:g.40851727T>C, NC_000019.9:g.41357632=, NC_000019.9:g.41357632T>C, NC_000019.10:g.40851727=, NC_000019.9:g.41357632T>G, NG_008377.1:g.3721=, 13344307, NC_000019.9:g.41357632T>A, NG_008377.1:g.3721A>C, rs7260629, 12986366 +PA166181779 rs72631546 NC_000002.12:5055225 1 0 0 0 0 NC_000002.11:g.5195358T>C, NC_000002.12:g.5055225=, rs72631546, 72631546, NC_000002.12:g.5055225T>C, NC_000002.11:g.5195358= +PA166156739 rs726501 PA30592 MAP3K1 NC_000005.10:56832039 1 1 0 0 0 NC_000005.9:g.56127866=, 57031684, XM_005248520.1:c.-8+14923G>A, NG_031884.1:g.21967=, XM_005248519.3:c.104+11223G>A, XM_011543407.1:c.482+15984G>A, NG_031884.1:g.21967G>A, NC_000005.10:g.56832039G>A, NC_000005.9:g.56127866G>A, NM_005921.1:c.482+15984G>A, 726501, rs57031684, XM_011543408.1:c.482+15984G>A, XM_005248519.1:c.71+11223G>A, XM_011543406.1:c.227+15704G>A, rs726501, NC_000005.10:g.56832039= +PA166185176 rs7266550 PA24429 ACSS2 NC_000020.11:34907707 1 0 0 0 0 NC_000020.11:g.34907707C>T, NC_000020.11:g.34907707=, NC_000020.10:g.33495510C>T, NG_011520.1:g.37766C>T, NC_000020.10:g.33495510=, 7266550, rs7266550, NG_011520.1:g.37766= +PA166251041 rs72675408 PA144596391 RAVER2 NC_000001.11:64748329 2 0 0 0 0 NC_000001.11:g.64748329=, NC_000001.10:g.65214012T>A, rs72675408, NC_000001.10:g.65214012=, NC_000001.11:g.64748329T>A, 72675408 +PA166288441 rs72675451 PA29988 JAK1 NC_000001.11:64861895 1 0 0 0 0 NG_023402.2:g.210852A>G, NC_000001.11:g.64861895=, NC_000001.10:g.65327578=, NC_000001.11:g.64861895T>G, NC_000001.10:g.65327578T>G, NG_023402.2:g.210852A>C, rs72675451, NC_000001.11:g.64861895T>C, NC_000001.10:g.65327578T>C, 72675451, NG_023402.2:g.210852= +PA166155964 rs7270101 PA29973 ITPA NC_000020.11:3213247 17 3 0 0 0 XM_006723564.2:c.124+21A>C, XM_011529235.1:c.124+21A>C, XM_011529234.1:c.124+21A>C, NM_001267623.1:c.67-738A>C, NC_000020.11:g.3213247=, NR_052001.1:n.49-11A>C, NM_181493.2:c.73+21A>C, XM_006723565.2:c.67-738A>C, NR_052000.1:n.224+21A>C, NR_052002.1:n.316+21A>C, NC_000020.10:g.3193893A>C, NM_033453.3:c.124+21A>C, NG_012093.2:g.9381A>C, 7270101, NC_000020.11:g.3213247A>C, rs7270101, NG_012093.1:g.8838A>C, NG_012093.2:g.9381=, NC_000020.10:g.3193893= +PA166232250 rs7271530 PA31944 OPRL1 NC_000020.11:64096562 1 0 0 0 0 60740332, NC_000020.11:g.64096562C>T, NC_000020.11:g.64096562=, 7271530, NC_000020.10:g.62727915C>T, rs7271530, NC_000020.10:g.62727915= +PA166153903 rs72728438 PA145 DPYD NC_000001.11:97382318 1 1 0 0 0 XM_006710397.2:c.1974+75A>G, NC_000001.11:g.97382318T>A, rs72728438, NM_000110.3:c.1974+75A>G, 74105154, rs74105154, NC_000001.10:g.97847874=, NG_008807.2:g.543742A>T, XR_947619.1:n.1347-1316T>C, XM_005270561.1:c.1863+75A>G, NC_000001.11:g.97382318=, XR_947621.1:n.1347-1316T>C, NG_008807.2:g.543742A>G, rs199469549, NC_000001.10:g.97847874T>C, XM_005270562.3:c.1758+75A>G, XR_947620.1:n.1125-1316T>C, NC_000001.11:g.97382318T>C, 72728438, NC_000001.10:g.97847874T>A, 199469549, NG_008807.2:g.543742=, XM_005270563.1:c.1974+75A>G, XM_005270562.1:c.1758+75A>G +PA166177944 rs7272891 PA33163 PDYN NC_000020.11:1996172 1 0 0 0 0 NC_000020.11:g.1996172C>G, NC_000020.10:g.1976818C>G, rs7272891, NC_000020.10:g.1976818=, NG_028027.1:g.3074G>C, NG_028027.1:g.3074=, NC_000020.11:g.1996172=, 7272891 +PA166195562 rs72732317 NC_000008.11:135413336 1 1 0 0 0 NC_000008.10:g.136425579=, rs72732317, NC_000008.11:g.135413336G>T, 72732317, NC_000008.11:g.135413336G>A, NC_000008.11:g.135413336=, NC_000008.10:g.136425579G>A, NC_000008.10:g.136425579G>T +PA166163632 rs727479 PA27091 CYP19A1 NC_000015.10:51242350 2 1 0 0 0 NG_007982.1:g.101249G>T, NC_000015.9:g.51534547=, NC_000015.10:g.51242350C>A, NC_000015.9:g.51534547C>T, NG_007982.1:g.101249=, 727479, NC_000015.10:g.51242350C>G, NG_007982.1:g.101249G>C, 386608836, NG_007982.1:g.101249G>A, NC_000015.10:g.51242350=, NC_000015.9:g.51534547C>A, 58671762, rs727479, NC_000015.10:g.51242350C>T, NC_000015.9:g.51534547C>G +PA166178569 rs727504129 PA34896 RYR1 NC_000019.10:38446481 2 0 0 0 0 rs727504129, NG_008866.1:g.17782C>T, NC_000019.10:g.38446481C>T, NC_000019.9:g.38937121C>T, 727504129, NC_000019.10:g.38446481=, NP_000531.2:p.Thr214=, NC_000019.9:g.38937121=, NP_000531.2:p.Thr214Met, NG_008866.1:g.17782= +PA166185910 rs727504348 PA28707 GLA NC_000023.11:101397982 1 1 0 0 0 rs727504348, NC_000023.10:g.100652970=, NC_000023.11:g.101397982=, NC_000023.11:g.101397982C>T, NP_000160.1:p.Gly373=, NP_000160.1:p.Gly373Ser, NG_007119.1:g.14982G>A, NG_007119.1:g.14982=, 727504348, NC_000023.10:g.100652970C>T +PA166185906 rs727505292 PA28707 GLA NC_000023.11:101398828 1 1 0 0 0 NG_007119.1:g.14136=, rs727505292, NP_000160.1:p.Ile253Thr, NP_000160.1:p.Ile253=, NG_007119.1:g.14136T>C, NC_000023.10:g.100653816=, NC_000023.10:g.100653816A>G, NC_000023.11:g.101398828=, NC_000023.11:g.101398828A>G, 727505292 +PA166165364 rs72765700 NC_000001.11:234510981 1 0 0 0 0 NC_000001.10:g.234646727T>A, NC_000001.11:g.234510981=, NC_000001.10:g.234646727=, 72765700, NC_000001.11:g.234510981T>C, NC_000001.11:g.234510981T>A, rs72765700, NC_000001.10:g.234646727T>C +PA166210017 rs72768626 PA36656 TNRC6A NC_000016.10:24681727 1 1 0 0 0 NC_000016.9:g.24693048A>G, NC_000016.9:g.24693048=, rs72768626, NC_000016.10:g.24681727=, NC_000016.10:g.24681727A>G, 72768626 +PA166153904 rs72772787 PA134942549 TRIM58 NC_000001.11:247853076 1 0 0 0 0 NC_000001.11:g.247853076=, NC_000001.10:g.248016378=, rs72772787, XM_005273092.1:c.-12-7541C>T, XM_005273091.1:c.-12-7541C>T, NC_000001.11:g.247853076C>T, NC_000001.10:g.248016378C>T, 72772787 +PA166279861 rs72783407 PA134900368 SPATA9 NC_000005.10:95678737 2 0 0 0 0 NC_000005.10:g.95678737T>A, NC_000005.9:g.95014441=, rs72783407, NC_000005.9:g.95014441T>A, NC_000005.10:g.95678737=, 72783407 +PA166156010 rs7279445 PA26711,PA327 COL18A1,SLC19A1 NC_000021.9:45500004 1 0 0 0 0 rs56456884, NG_011903.1:g.99822=, 60932654, NC_000021.8:g.46919918C>T, NM_130445.2:c.2683+2343C>T, XM_005261181.1:c.2683+2343C>T, NM_130444.2:c.3928+2343C>T, NG_011903.1:g.99822C>T, XM_005261179.1:c.3187+2343C>T, NC_000021.9:g.45500004C>T, NM_030582.3:c.3223+2343C>T, 56456884, NM_130445.3:c.2683+2343C>T, XM_005261180.1:c.3124+2343C>T, 7279445, 60261684, NC_000021.8:g.46919918=, NC_000021.9:g.45500004=, XM_005261182.1:c.2659+2343C>T, rs7279445, XM_005261178.1:c.3223+2343C>T, rs60261684, rs60932654 +PA166155983 rs727957 PA211 KCNE1 NC_000021.9:34507774 1 0 0 0 0 NC_000021.9:g.34507774G>T, rs59445368, NC_000021.8:g.35880072G>A, NG_009091.1:g.8542C>T, rs17682801, rs727957, NM_001270404.2:c.-51+3327C>A, NM_000219.5:c.-162+3327C>A, 727957, 17682801, NC_000021.8:g.35880072=, NC_000021.8:g.35880072G>T, XM_011529557.1:c.168+3327C>A, NM_000219.3:c.-162+3327C>A, NC_000021.9:g.34507774G>A, NG_009091.1:g.8542C>A, NG_009091.1:g.8542=, 59445368, NM_001270403.2:c.-134+3327C>A, NM_001270402.2:c.-162+3327C>A, NC_000021.9:g.34507774= +PA166160869 rs72800847 PA38345 STX1B NC_000016.10:31011318 1 1 0 0 0 NG_041829.1:g.4191=, NC_000016.10:g.31011318=, NC_000016.9:g.31022639G>A, NG_041829.1:g.4191C>T, rs72800847, 72800847, NC_000016.10:g.31011318G>A, NC_000016.9:g.31022639= +PA166186261 rs72819363 PA26288 CDH15 NC_000016.10:89189632 1 0 0 0 0 NG_012055.1:g.22878=, NC_000016.10:g.89189632A>C, NC_000016.9:g.89256040A>C, NC_000016.10:g.89189632=, NG_012055.1:g.22878A>C, rs72819363, NC_000016.9:g.89256040=, 72819363 +PA166176394 rs72836345 PA134932567,PA25305 ACOXL,BCL2L11 NC_000002.12:111118962 1 0 0 0 0 NG_029006.1:g.3049=, rs72836345, NC_000002.11:g.111876539T>C, NG_029006.1:g.3049T>C, NC_000002.11:g.111876539=, 72836345, NC_000002.12:g.111118962T>C, NC_000002.12:g.111118962= +PA166176390 rs72836346 PA134932567,PA25305 ACOXL,BCL2L11 NC_000002.12:111119036 1 0 0 0 0 NC_000002.11:g.111876613G>C, NC_000002.12:g.111119036G>A, NC_000002.12:g.111119036G>C, NG_029006.1:g.3123=, rs72836346, 72836346, NC_000002.11:g.111876613=, NG_029006.1:g.3123G>C, NC_000002.12:g.111119036=, NC_000002.11:g.111876613G>A, NG_029006.1:g.3123G>A +PA166249261 rs72846714 PA31801 NT5C2 NC_000010.11:103118697 1 0 0 0 0 NC_000010.10:g.104878454=, NC_000010.10:g.104878454G>A, rs72846714, 72846714, NC_000010.11:g.103118697=, NC_000010.11:g.103118697G>A, NG_042272.1:g.79610=, NG_042272.1:g.79610C>T +PA166156128 rs7284807 PA27331 CYB5R3 NC_000022.11:42619381 1 0 0 0 0 NC_000022.10:g.43015387C>G, NM_001129819.2:c.*392G>C, NC_000022.10:g.43015387=, rs58086521, rs7284807, NM_001171661.1:c.*392G>C, NC_000022.11:g.42619381=, NM_001171660.1:c.*392G>C, NG_012194.1:g.35019=, NC_000022.11:g.42619381C>G, NG_012194.1:g.35019G>C, NM_007326.4:c.*392G>C, 58086521, NM_000398.6:c.*392G>C, 7284807 +PA166156129 rs7287550 PA117,PA38302 COMT,TXNRD2 NC_000022.11:19944453 1 0 0 0 0 7287550, NG_011835.1:g.2384A>C, rs7287550, XM_005261229.1:c.-386+2556T>C, XM_011529890.1:c.-386+2556T>C, NG_011835.1:g.2384A>G, NC_000022.10:g.19931976T>C, NC_000022.11:g.19944453T>C, NC_000022.11:g.19944453=, XM_011529891.1:c.-386+2278T>C, NG_011526.1:g.7714T>C, NC_000022.11:g.19944453T>G, NC_000022.10:g.19931976T>G, NG_011835.1:g.2384=, XM_011529887.1:c.-92+2556T>C, NM_000754.3:c.-92+2556T>C, NG_011526.1:g.7714T>G, NC_000022.10:g.19931976=, NG_011526.1:g.7714= +PA166156490 rs729147 PA24577 ADH7 NC_000004.12:99412110 2 1 0 0 0 59352744, NC_000004.11:g.100333267G>A, 729147, NM_001166504.1:c.*1038C>T, 3805327, NC_000004.11:g.100333267G>C, rs3805327, NC_000004.12:g.99412110=, NC_000004.12:g.99412110G>C, NM_000673.4:c.*1038C>T, 56638370, rs59352744, NC_000004.12:g.99412110G>A, NC_000004.11:g.100333267=, rs56638370, rs729147 +PA166154977 rs7294 PA165450635,PA133787052 PRSS53,VKORC1 NC_000016.10:31091000 31 3 0 0 0 NM_001311311.1:c.*134G>A, NM_024006.5:c.*134G>A, rs7294, XR_243303.1:n.1175G>A, NC_000016.9:g.31102321=, XM_011545819.1:c.-2191G>A, rs17880624, XM_005255568.1:c.*134G>A, NG_011564.1:g.8956G>A, rs59098562, 59098562, 17880624, NG_011564.1:g.8956=, NM_206824.2:c.*237G>A, XM_011545945.1:c.*237G>A, NC_000016.10:g.31091000C>T, XM_011545820.1:c.-2191G>A, 7294, 9041 G>A on AY587020, XM_011545943.1:c.*134G>A, XM_011545817.1:c.-2191G>A, XM_011545818.1:c.-2191G>A, XM_011545944.1:c.*134G>A, NC_000016.9:g.31102321C>T, XR_950848.1:n.1414G>A, XM_011545816.1:c.-2191G>A, NC_000016.10:g.31091000= +PA166154597 rs7295250 PA83 CACNA1C NC_000012.12:2667777 2 0 0 0 0 NM_001129831.1:c.4707+995T>C, NM_001129844.1:c.4614+995T>C, NM_001167624.2:c.4623+995T>C, XM_005253780.1:c.4593+995T>C, XM_011521017.1:c.3867+995T>C, XM_005253765.1:c.4917+995T>C, NM_001129839.1:c.4584+995T>C, XM_006719017.1:c.4713+995T>C, NM_001129835.1:c.4623+995T>C, rs17761221, XM_005253779.1:c.4599+995T>C, NG_008801.2:g.701992=, XM_005253775.1:c.4632+995T>C, NM_001129832.1:c.4683+995T>C, NM_001129842.1:c.4623+995T>C, XM_005253777.1:c.4683+995T>C, NC_000012.12:g.2667777=, XM_005253766.1:c.4776+995T>C, XM_005253782.1:c.4632+995T>C, XM_005253778.1:c.4599+995T>C, 60758963, XM_011521018.1:c.3312+995T>C, NM_001129840.1:c.4623+995T>C, XM_005253772.1:c.4716+995T>C, XM_011521022.1:c.4623+995T>C, rs60758963, NM_001129838.1:c.4590+995T>C, NM_001129843.1:c.4623+995T>C, NM_001129834.1:c.4623+995T>C, XM_005253773.1:c.4692+995T>C, XM_005253783.1:c.4632+995T>C, 7295250, NM_001129836.1:c.4674+995T>C, NM_001129830.2:c.4623+995T>C, XM_005253774.1:c.4632+995T>C, NC_000012.11:g.2776943=, XM_005253771.1:c.4632+995T>C, XM_005253786.1:c.4623+995T>C, XM_005253781.1:c.4632+995T>C, XM_005253769.1:c.4698+995T>C, XM_005253768.1:c.4776+995T>C, NM_001129846.1:c.4590+995T>C, NM_001167625.1:c.4590+995T>C, XM_011521019.1:c.1422+995T>C, NC_000012.11:g.2776943T>C, XM_005253784.1:c.4632+995T>C, NM_001129829.1:c.4689+995T>C, XM_005253787.1:c.4599+995T>C, XM_011521020.1:c.4788+995T>C, XM_005253788.1:c.2529+995T>C, NG_008801.2:g.701992T>C, NM_001129833.1:c.4623+995T>C, NM_001129830.1:c.4623+995T>C, 17761221, XM_005253785.1:c.4632+995T>C, NM_001129827.1:c.4767+995T>C, NM_000719.6:c.4623+995T>C, NC_000012.12:g.2667777T>C, XM_005253776.1:c.4632+995T>C, XM_005253770.1:c.4632+995T>C, rs7295250, NM_001129837.1:c.4590+995T>C, NM_199460.3:c.4767+995T>C, XM_011521021.1:c.4623+995T>C, XM_005253767.1:c.4599+995T>C, NM_001129841.1:c.4623+995T>C, XM_011521023.1:c.4698+995T>C, NM_001167623.1:c.4623+995T>C +PA166323065 rs729559 NC_000002.12:42045844 2 0 0 0 0 386608973, NC_000002.12:g.42045844=, NC_000002.11:g.42272984=, rs729559, NC_000002.12:g.42045844A>G, NC_000002.12:g.42045844A>T, 57713225, NC_000002.11:g.42272984A>G, 729559, NC_000002.11:g.42272984A>T +PA166159780 rs72975710 PA145 DPYD NC_000001.11:97549735 1 0 0 1 0 NP_000101.2:p.Ala450=, NP_000101.2:p.Ala450Val, 72975710, NC_000001.11:g.97549735G>A, NG_008807.2:g.376325C>T, NP_000101.2:p.Ala450Gly, NG_008807.2:g.376325C>G, rs72975710, NC_000001.10:g.98015291G>C, NC_000001.10:g.98015291=, NC_000001.10:g.98015291G>A, NG_008807.2:g.376325=, NC_000001.11:g.97549735G>C, NC_000001.11:g.97549735= +PA166154598 rs7297610 PA134992686 YEATS4 NC_000012.12:69430244 4 1 0 0 0 NC_000012.12:g.69430244=, NC_000012.11:g.69824024C>T, NC_000012.12:g.69430244C>T, rs57437026, 57437026, 7297610, NC_000012.11:g.69824024=, rs7297610, XR_945061.1:n.-1307C>T +PA166156740 rs730012 PA235,PA30783 LTC4S,MGAT4B NC_000005.10:179793637 4 2 0 0 0 NG_028161.1:g.4653A>C, NG_028161.1:g.4653=, 730012, NC_000005.10:g.179793637A>C, NC_000005.9:g.179220638A>C, NC_000005.9:g.179220638A>T, NC_000005.10:g.179793637=, rs730012, NG_028161.1:g.4653A>T, XM_005265914.1:c.-1757A>C, XM_005265913.1:c.7-237A>C, NC_000005.10:g.179793637A>T, NC_000005.9:g.179220638=, NM_145867.1:c.-444A>C, XM_005265912.1:c.-288A>C +PA166154599 rs7301408 PA162388036 FAR2 NC_000012.12:29205634 1 0 0 0 0 rs58590176, NC_000012.11:g.29358567T>G, NM_001271783.1:c.-39+56227T>G, 58590176, NC_000012.12:g.29205634=, 7301408, rs7301408, NC_000012.11:g.29358567=, NC_000012.12:g.29205634T>G +PA166163636 rs730154 PA27091 CYP19A1 NC_000015.10:51299007 2 0 0 0 0 NC_000015.9:g.51591204=, 9282883, NG_007982.1:g.44592=, 730154, 2470154, 386609041, NC_000015.10:g.51299007T>C, NC_000015.9:g.51591204T>C, NG_007982.1:g.44592A>G, NC_000015.10:g.51299007=, 58826888, rs730154 +PA166160807 rs7301582 PA30163 KLRC1 NC_000012.12:10449091 1 1 0 0 0 NC_000012.12:g.10449091=, NC_000012.11:g.10601690=, rs7301582, NC_000012.12:g.10449091C>T, 7301582, NC_000012.11:g.10601690C>T, 58715413 +PA166196721 rs73032311 PA27102 CYP2A7 NC_000019.10:40880128 1 0 0 0 0 NC_000019.10:g.40880128=, NC_000019.9:g.41386033=, NP_000755.2:p.Met204=, 73032311, NC_000019.10:g.40880128T>C, NG_007960.1:g.7625A>G, NC_000019.10:g.40880128T>A, NC_000019.9:g.41386033T>C, NG_007960.1:g.7625A>T, NP_000755.2:p.Met204Val, NC_000019.9:g.41386033T>A, NG_007960.1:g.7625=, rs73032311, NP_000755.2:p.Met204Leu +PA166288062 rs73044680 PA34276 RBMS3 NC_000003.12:29534169 1 0 0 0 0 rs73044680, 73044680, NC_000003.11:g.29575660=, NC_000003.12:g.29534169=, NC_000003.11:g.29575660A>G, NC_000003.12:g.29534169A>G +PA166154600 rs7305115 PA128747823 TPH2 NC_000012.12:71979082 3 0 0 0 0 NC_000012.11:g.72372862A>T, NC_000012.12:g.71979082A>G, NM_173353.3:c.936A>G, NG_008279.1:g.45237A>C, NC_000012.12:g.71979082A>C, 58909855, rs7305115, XP_011536201.1:p.Pro114=, rs58909855, XM_011537899.1:c.342A>G, NC_000012.11:g.72372862=, NC_000012.12:g.71979082=, NG_008279.1:g.45237=, 7305115, NC_000012.11:g.72372862A>G, NG_008279.1:g.45237A>T, NC_000012.12:g.71979082A>T, XP_005268699.1:p.Pro318=, NG_008279.1:g.45237A>G, XM_005268642.1:c.954A>G, NP_775489.2:p.Pro312=, NC_000012.11:g.72372862A>C +PA166154601 rs7305534 PA24920 AQP2 NC_000012.12:49947827 2 0 0 0 0 NC_000012.11:g.50341610=, NG_008913.1:g.2087=, NG_008913.1:g.2087T>A, NG_008913.1:g.2087T>C, NG_008913.1:g.2087T>G, 7305534, 57602581, rs7305534, rs57602581, NC_000012.12:g.49947827T>G, NC_000012.11:g.50341610T>C, NC_000012.12:g.49947827=, NC_000012.11:g.50341610T>A, NC_000012.12:g.49947827T>A, NC_000012.11:g.50341610T>G, NC_000012.12:g.49947827T>C +PA166309761 rs73062673 PA26674 CNOT3 NC_000019.10:54151243 1 0 0 0 0 NC_000019.9:g.54654980T>C, 73062673, NC_000019.10:g.54151243=, rs73062673, NC_000019.10:g.54151243T>C, NC_000019.9:g.54654980= +PA166177206 rs7306991 NC_000012.12:9657855 1 1 0 0 0 12819748, rs7306991, 59197334, NC_000012.12:g.9657855=, 7306991, NC_000012.12:g.9657855A>G, NC_000012.11:g.9810451A>G, NC_000012.12:g.9657855A>T, NC_000012.11:g.9810451=, NC_000012.11:g.9810451A>T +PA166156894 rs73069924 PA128394670 MTMR12 NC_000005.10:32278127 1 0 0 0 0 XM_005248313.1:c.82-1385T>C, XM_005248313.2:c.82-1385T>C, NC_000005.9:g.32278233=, XM_011514057.1:c.82-1385T>C, rs73069924, XM_011514060.1:c.82-1385T>C, NC_000005.10:g.32278127A>G, NM_001294343.1:c.82-1385T>C, NC_000005.9:g.32278233A>G, XM_005248316.1:c.82-1385T>C, NC_000005.10:g.32278127=, XM_005248314.1:c.82-1385T>C, NM_001040446.2:c.82-1385T>C, XM_011514058.1:c.82-1385T>C, XM_011514059.1:c.82-1385T>C, NM_001294344.1:c.82-1385T>C, XM_005248315.1:c.82-1385T>C, 73069924, XM_005248317.1:c.82-1385T>C +PA166153954 rs730720 PA26503 CHST3 NC_000010.11:72013004 1 1 0 0 0 XM_011540369.1:c.*4533C>T, NG_012635.1:g.53643=, NG_012635.1:g.53643C>T, NC_000010.11:g.72013004=, NC_000010.10:g.73772762=, NC_000010.11:g.72013004C>T, NM_004273.4:c.*4533C>T, rs730720, 56903566, XM_006718075.2:c.*4533C>T, rs56903566, 730720, NC_000010.10:g.73772762C>T +PA166156260 rs730882170 PA128 CYP2D6 NC_000022.11:42127846_42127864 1 1 1 0 0 NC_000022.11:g.42127846_42127864del19, NP_000097.3:p.Met321_Val327=, XM_011547750.1:c.819_837del19, NM_001025161.2:c.810_828del19, XP_011546052.1:p.Met273Ilefs, NP_000097.3:p.Met321Ilefs, XM_011529972.1:c.844-230_844-212del19, XM_011529970.1:c.810_828del19, XM_011529971.1:c.819_837del19, XM_011529968.1:c.963_981del19, NC_000022.10:g.42523848_42523866del19, XM_011547751.1:c.747_765del19, NG_008376.4:g.7947_7965del, XP_005278411.1:p.Met221Ilefs, NG_008376.4:g.7947_7965=, XM_011529966.1:c.963_981del19, XP_011528268.1:p.Met321Ilefs, XP_011546053.1:p.Met249Ilefs, XR_952745.1:n.2001-230_2001-212del19, NG_008376.3:g.7128_7146del, XP_011528273.1:p.Met273Ilefs, NC_000022.11:g.42127846_42127864del, rs730882170, NP_000097.3:p.Met321fs, NG_008376.3:g.7128_7146=, NW_004504305.1:g.50173_50191del19, XP_011547121.1:p.Met221Ilefs, NG_008376.3:g.7128_7146del19, XM_011547541.1:c.663_681del19, XM_005278354.1:c.663_681del19, 730882170, XP_011528272.1:p.Met270Ilefs, NC_000022.11:g.42127846_42127864=, XP_011528269.1:p.Met321Ilefs, XP_011528270.1:p.Met321Ilefs, NP_001020332.2:p.Met270Ilefs, NC_000022.10:g.42523848_42523866del, XM_005278353.1:c.819_837del19, NM_000106.5:c.963_981del19, XM_011529969.1:c.819_837del19, XP_011528271.1:p.Met273Ilefs, NT_187682.1:g.50187_50205del19, XM_005278354.3:c.663_681del19, NC_000022.10:g.42523848_42523866=, XP_005278410.1:p.Met273Ilefs, XM_011529967.1:c.963_981del19, NW_009646208.1:g.13412_13430del19, XM_011548819.1:c.663_681del19, XP_011545843.1:p.Met221Ilefs +PA166156261 rs730882251 PA128 CYP2D6 NC_000022.11:42126747 4 3 3 0 0 NT_187682.1:g.49088G>A, XP_011528269.1:p.Arg441Cys, NP_000097.3:p.Arg441=, rs730882251, XM_011547751.1:c.1105C>T, 730882251, NC_000022.10:g.42522749G>A, NC_000022.10:g.42522749=, NG_008376.4:g.9064=, XM_011529969.1:c.1177C>T, XP_011528270.1:p.Arg441Cys, XP_011528271.1:p.Arg393Cys, NP_001020332.2:p.Arg390Cys, XP_005278411.1:p.Arg341Cys, NG_008376.3:g.8245=, NW_009646208.1:g.12313G>A, XM_011529970.1:c.1168C>T, XP_011528272.1:p.Arg390Cys, NG_008376.4:g.9064C>T, XM_005278354.1:c.1021C>T, 730882171, XP_011528273.1:p.Arg393Cys, XM_011547750.1:c.1177C>T, XP_011546052.1:p.Arg393Cys, NW_004504305.1:g.49074G>A, XM_005278354.3:c.1021C>T, NM_001025161.2:c.1168C>T, XM_011529971.1:c.1177C>T, NC_000022.11:g.42126747=, XP_005278410.1:p.Arg393Cys, XM_011529967.1:c.1321C>T, XP_011546053.1:p.Arg369Cys, NM_000106.5:c.1321C>T, XM_011529968.1:c.1321C>T, XR_952745.1:n.2336C>T, XM_005278353.1:c.1177C>T, NG_008376.3:g.8245C>T, XM_011529966.1:c.1321C>T, XP_011528268.1:p.Arg441Cys, NP_000097.3:p.Arg441Cys, NC_000022.11:g.42126747G>A +PA166154602 rs7311358 PA35844 SLCO1B3 NC_000012.12:20862826 21 6 0 0 0 rs60001963, NP_062818.1:p.Met233=, NG_032071.1:g.57123=, NP_062818.1:p.Met233Ile, NG_032071.1:g.57123G>A, NM_019844.3:c.699G>A, NC_000012.12:g.20862826G>A, NC_000012.11:g.21015760G>A, rs7311358, 60001963, NC_000012.12:g.20862826=, NC_000012.11:g.21015760=, XM_005253347.1:c.699G>A, XP_005253404.1:p.Met233Ile, 7311358 +PA166154500 rs731236 PA37301 VDR NC_000012.12:47844974 6 3 0 0 0 NM_001017536.1:c.1206T>C, 17880019, XP_011537022.1:p.Ile352=, 17777794, 59730659, NP_001017536.1:p.Ile402=, rs118037316, rs386609145, NM_000376.2:c.1056T>C, NC_000012.12:g.47844974=, rs731236, NM_001017535.1:c.1056T>C, NC_000012.11:g.48238757A>G, NG_008731.1:g.65058T>C, 386609145, 731236, XM_006719587.2:c.1056T>C, NG_008731.1:g.65058=, NP_000367.1:p.Ile352=, NP_001017535.1:p.Ile352=, XM_011538720.1:c.1056T>C, rs2228571, 2228571, XR_944903.1:n.-1841A>G, NC_000012.11:g.48238757=, rs17880019, NC_000012.12:g.47844974A>G, XP_006719650.1:p.Ile352=, rs59730659, 118037316, rs17777794 +PA166154603 rs7314734 PA24920 AQP2 NC_000012.12:49946258 1 0 0 0 0 XR_944942.1:n.3037C>T, XR_944949.1:n.2222C>T, XR_944952.1:n.3037C>T, XR_944944.1:n.2873C>T, XR_944943.1:n.2831C>T, XR_944946.1:n.2912C>T, NG_008913.1:g.518=, NC_000012.11:g.50340041C>T, XR_944950.1:n.1555C>T, NC_000012.11:g.50340041=, NC_000012.12:g.49946258=, NG_008913.1:g.518C>T, rs7314734, 7314734, NC_000012.12:g.49946258C>T, XR_944947.1:n.2861C>T, XR_944948.1:n.2555C>T, XR_944951.1:n.3037C>T, XR_944945.1:n.2288C>T +PA166165284 rs7314976 PA165961843 HCAR2 NC_000012.12:122702353 1 0 0 0 0 NC_000012.12:g.122702353G>C, rs7314976, 7314976, 17880696, NC_000012.12:g.122702353=, NP_808219.1:p.Arg311Cys, NC_000012.11:g.123186900G>A, NP_808219.1:p.Arg311=, NC_000012.11:g.123186900G>C, NC_000012.11:g.123186900=, NC_000012.12:g.122702353G>A, NP_808219.1:p.Arg311Gly +PA166154604 rs7316246 PA83 CACNA1C NC_000012.12:2695289 1 0 0 0 0 XM_005253766.1:c.*4090G>A, XM_005253768.1:c.*4090G>A, NM_001129833.1:c.*4090G>A, NM_001129830.2:c.*4090G>A, NM_001129835.1:c.*4090G>A, XM_005253787.1:c.*4090G>A, NM_001167624.2:c.*4090G>A, NM_001167623.1:c.*4090G>A, NM_001129837.1:c.*4090G>A, NM_001167625.1:c.*4090G>A, NM_001129841.1:c.*4090G>A, NG_008801.2:g.729504=, NC_000012.11:g.2804455G>A, XM_005253774.1:c.*4090G>A, NM_001129839.1:c.*4090G>A, XM_005253775.1:c.*4090G>A, XM_005253776.1:c.*4090G>A, XM_005253778.1:c.*4090G>A, XM_011521020.1:c.*4090G>A, NM_001129827.1:c.*4090G>A, XM_005253779.1:c.*4090G>A, XM_005253777.1:c.*4090G>A, XM_011521021.1:c.*4090G>A, XM_011521023.1:c.*4090G>A, XM_011521022.1:c.*4090G>A, NM_001129829.1:c.*4090G>A, NC_000012.12:g.2695289G>C, NC_000012.12:g.2695289G>A, XM_005253765.1:c.*4090G>A, NC_000012.11:g.2804455=, XM_005253780.1:c.*4090G>A, XM_005253767.1:c.*4090G>A, NG_008801.2:g.729504G>C, NM_001129832.1:c.*4090G>A, NG_008801.2:g.729504G>A, XM_005253786.1:c.*4090G>A, XM_005253769.1:c.*4090G>A, XM_005253788.1:c.*4090G>A, NM_001129834.1:c.*4090G>A, NM_001129838.1:c.*4090G>A, NM_001129842.1:c.*4090G>A, XM_006719017.1:c.*4090G>A, NM_199460.3:c.*4090G>A, NM_001129840.1:c.*4090G>A, NM_001129836.1:c.*4090G>A, rs7316246, 7316246, XM_005253773.1:c.*4090G>A, XM_005253770.1:c.*4090G>A, XM_005253772.1:c.*4090G>A, NC_000012.11:g.2804455G>C, XM_005253771.1:c.*4090G>A, NC_000012.12:g.2695289=, NM_001129843.1:c.*4090G>A, NM_001129844.1:c.*4090G>A, NM_001129846.1:c.*4090G>A, XM_005253785.1:c.*4090G>A, NM_000719.6:c.*4090G>A, NM_001129831.1:c.*4090G>A, XM_005253783.1:c.*4090G>A, XM_005253784.1:c.*4090G>A, NM_001129830.1:c.*4090G>A, XM_005253781.1:c.*4090G>A, XM_011521017.1:c.*4090G>A, XM_011521018.1:c.*4090G>A, XM_011521019.1:c.*4090G>A, XM_005253782.1:c.*4090G>A +PA166177207 rs7316769 NC_000012.12:9657125 1 1 0 0 0 7316769, rs7316769, 12811494, NC_000012.12:g.9657125=, 61614532, NC_000012.11:g.9809721G>T, NC_000012.12:g.9657125G>T, NC_000012.11:g.9809721= +PA166154718 rs7317112 PA397 ABCC4 NC_000013.11:95271269 4 2 0 0 0 NG_050651.1:g.35178T>C, XM_005254027.1:c.75-23516T>C, rs7317112, 56448869, NC_000013.11:g.95271269=, 57356558, NG_050651.1:g.35178=, XM_005254025.2:c.-2168T>C, 60109691, NM_005845.4:c.75-23516T>C, NC_000013.10:g.95923523A>G, XM_006719914.1:c.75-23516T>C, NC_000013.11:g.95271269A>G, rs56448869, NM_001105515.2:c.75-23516T>C, NM_001301830.1:c.75-23516T>C, XM_005254026.1:c.75-23516T>C, rs57356558, rs60109691, 7317112, NM_001301829.1:c.75-23516T>C, XM_005254028.1:c.75-23516T>C, NC_000013.10:g.95923523= +PA166156942 rs731780 PA154 SLC29A1 NC_000006.12:44225969 1 0 0 0 0 NM_001078175.2:c.-158-92C>G, XM_011514341.1:c.187-1291C>G, XM_005248881.3:c.-1122C>G, NC_000006.11:g.44193706C>G, XM_005248882.1:c.-1125C>G, rs731780, rs56622061, XM_005248877.1:c.76-1294C>G, NM_001304466.1:c.25-1294C>G, NM_004955.2:c.-51-1294C>G, NC_000006.12:g.44225969=, XM_005248879.1:c.-158-92C>G, rs58000430, XM_005248875.1:c.187-1294C>G, NM_001078174.1:c.-54-1291C>G, NM_001078176.2:c.-51-1294C>G, XM_005248876.3:c.76-1291C>G, 58000430, XM_005248876.1:c.76-1291C>G, NM_001304463.1:c.76-1294C>G, NM_001304462.1:c.187-1294C>G, XM_005248878.3:c.-158-92C>G, XM_005248882.3:c.-1125C>G, XM_005248878.1:c.-158-92C>G, NM_001304465.1:c.25-1291C>G, NM_001078177.1:c.-161-92C>G, XM_005248879.3:c.-158-92C>G, XM_005248880.3:c.-161-92C>G, XM_005248881.1:c.-1122C>G, XM_005248880.1:c.-161-92C>G, NC_000006.12:g.44225969C>G, NG_042893.1:g.11465C>G, 731780, 56622061, NC_000006.11:g.44193706=, NG_042893.1:g.11465= +PA166267001 rs73189762 PA134877001 MED4 NC_000013.11:48094016 3 1 0 0 0 rs73189762, NC_000013.11:g.48094016=, 73189762, NC_000013.11:g.48094016G>A, NC_000013.10:g.48668152G>T, NC_000013.11:g.48094016G>T, NC_000013.10:g.48668152G>A, NC_000013.10:g.48668152= +PA166154719 rs7319981 PA318 SLC10A2 NC_000013.11:103071372 3 1 0 0 0 NG_016648.1:g.475=, NG_016648.1:g.475C>T, NC_000013.11:g.103071372=, 7319981, rs7319981, NC_000013.11:g.103071372G>A, rs56422021, NC_000013.10:g.103723722=, 56422021, NC_000013.10:g.103723722G>A +PA166181200 rs73208473 PA134902026 SORCS2 NC_000004.12:7322869 2 1 0 0 0 NC_000004.12:g.7322869=, rs73208473, NC_000004.12:g.7322869C>A, NC_000004.11:g.7324596C>T, 73208473, NC_000004.11:g.7324596=, NC_000004.11:g.7324596C>A, NC_000004.12:g.7322869C>T +PA166203146 rs7322318 PA397 ABCC4 NC_000013.11:95271434 1 0 0 0 0 NC_000013.11:g.95271434=, NC_000013.10:g.95923688T>C, NG_050651.1:g.35013A>G, rs7322318, 7322318, NG_050651.1:g.35013=, NC_000013.11:g.95271434T>C, NC_000013.10:g.95923688= +PA166154720 rs7325568 NC_000013.11:40244147 1 1 0 0 0 rs7325568, NC_000013.10:g.40818284=, NC_000013.11:g.40244147=, NC_000013.10:g.40818284C>T, NC_000013.11:g.40244147C>T, 7325568 +PA166157508 rs73294475 PA26875 CRHR2 NC_000007.14:30661980 1 0 0 0 0 NM_001202475.1:c.839+176A>G, NM_001202483.1:c.758+176A>G, NG_029169.1:g.43124A>G, NM_001202481.1:c.716+176A>G, NC_000007.13:g.30701596T>C, XM_011515129.1:c.758+176A>G, NC_000007.13:g.30701596=, 73294475, NM_001202482.1:c.755+176A>G, NG_029169.1:g.43124=, NC_000007.14:g.30661980T>C, NM_001883.4:c.758+176A>G, XM_011515127.1:c.758+176A>G, XR_242065.1:n.1003+176A>G, NC_000007.14:g.30661980=, XM_011515128.1:c.758+176A>G, rs73294475 +PA166181483 rs733392 PA376 ABCC3 NC_000017.11:50659042 1 0 0 0 0 NC_000017.11:g.50659042=, NC_000017.11:g.50659042G>A, 733392, rs733392, NC_000017.10:g.48736403G>A, 118193034, NC_000017.10:g.48736403=, 58267273 +PA166154721 rs7336345 NC_000013.11:82569872 1 0 0 0 0 rs61396868, 7336345, NC_000013.10:g.83144007C>A, 61396868, rs7336345, NC_000013.11:g.82569872C>A, rs112105982, 9318883, rs9318883, 112105982, NC_000013.10:g.83144007=, NC_000013.11:g.82569872= +PA166252966 rs7341475 PA34323 RELN NC_000007.14:103764368 1 0 0 0 0 NC_000007.13:g.103404815G>A, 10435341, 61226603, NC_000007.13:g.103404815=, 56508127, NG_011877.2:g.230149=, 7341475, NG_011877.2:g.230149C>T, rs7341475, NC_000007.14:g.103764368=, NC_000007.14:g.103764368G>A, 17369114 +PA166157509 rs73420732 PA7360 EGFR NC_000007.14:55030069 1 0 0 0 0 NM_201283.1:c.88+10704G>T, XR_428151.2:n.681G>T, rs73420732, XM_005271746.1:c.88+10704G>T, NC_000007.13:g.55097762G>T, NC_000007.14:g.55030069G>A, NM_201284.1:c.88+10704G>T, NG_007726.3:g.16038G>T, 73420732, NM_005228.3:c.88+10704G>T, NC_000007.13:g.55097762G>A, NC_000007.14:g.55030069=, NC_000007.13:g.55097762=, NM_201282.1:c.88+10704G>T, NC_000007.14:g.55030069G>T, XM_005271748.1:c.88+10704G>T, NG_007726.3:g.16038G>A, NG_007726.3:g.16038= +PA166196182 rs734312 PA37365 WFS1 NC_000004.12:6301627 1 0 0 0 0 NC_000004.11:g.6303354G>A, NC_000004.11:g.6303354=, 1046313, NC_000004.12:g.6301627=, rs734312, 58910458, NC_000004.12:g.6301627G>A, NG_011700.1:g.36778=, NG_011700.1:g.36778G>A, NP_005996.2:p.Arg611=, 3733193, NP_005996.2:p.Arg611His, 734312, 17719619 +PA166201561 rs73450548 PA27903 ETS2 NC_000021.9:38805401 1 1 0 0 0 NC_000021.9:g.38805401=, NC_000021.8:g.40177325=, NC_000021.8:g.40177325G>A, rs73450548, NP_001243224.1:p.Ala19Thr, NP_001243224.1:p.Ala19=, NC_000021.9:g.38805401G>A, 73450548 +PA166156491 rs734644 PA134968284 ADGRL3 NC_000004.12:61935010 1 1 0 0 0 XM_011531787.1:c.2244T>C, NP_056051.2:p.Asn693=, XP_011530093.1:p.Asn748=, rs17226328, XM_005265660.1:c.2283T>C, XP_011530086.1:p.Asn756=, XP_011530087.1:p.Asn756=, 61382511, NM_015236.4:c.2079T>C, XM_011531793.1:c.2283T>C, XP_011530089.1:p.Asn748=, NW_003315916.1:g.44819T>C, XM_011531786.1:c.2283T>C, NC_000004.11:g.62800728T>A, XM_011531791.1:c.2244T>C, NC_000004.11:g.62800728T>C, XM_005265661.1:c.2079T>C, 17226328, NP_056051.2:p.Asn693Lys, XM_011531789.1:c.2283T>C, NG_033950.2:g.738755=, XM_011531788.1:c.2283T>C, XP_005265718.1:p.Asn693=, XP_011530094.1:p.Asn693=, 734644, NC_000004.11:g.62800728=, XP_005265717.1:p.Asn761=, XP_011530088.1:p.Asn761=, XM_011531785.1:c.2268T>C, NG_033950.2:g.738755T>A, NG_033950.2:g.738755T>C, NG_033950.1:g.442890T>C, NC_000004.12:g.61935010=, rs734644, XM_011531792.1:c.2079T>C, XM_011531784.1:c.2268T>C, NC_000004.12:g.61935010T>C, XP_011530090.1:p.Asn761=, XP_011530091.1:p.Asn761=, rs61382511, NC_000004.12:g.61935010T>A, XP_011530092.1:p.Asn761=, XP_011530095.1:p.Asn761=, XM_011531790.1:c.2283T>C +PA166196170 rs734784 PA30078 KCNS1 NC_000020.11:45094986 1 0 0 0 0 52800490, NC_000020.11:g.45094986=, NP_002242.2:p.Ile489=, NC_000020.11:g.45094986T>C, NP_002242.2:p.Ile489Val, 56536526, NC_000020.10:g.43723627=, rs734784, NC_000020.10:g.43723627T>C, 734784, 56916043, 386609467 +PA166261381 rs73482673 NC_000009.12:24121613 1 0 0 0 0 73652053, NC_000009.12:g.24121613G>A, 73482673, rs73482673, NC_000009.12:g.24121613=, NC_000009.11:g.24121611G>A, NC_000009.11:g.24121611= +PA166156616 rs7349683 PA27821 EPHA5 NC_000004.12:65332086 5 1 0 0 0 XM_011531733.1:c.2691G>A, XP_011530037.1:p.Gly854=, NP_004430.4:p.Gly965=, 7349683, XM_005265653.1:c.2406G>A, NC_000004.12:g.65332086C>T, NM_001318761.1:c.2691G>A, XM_011531734.1:c.2691G>A, NM_001281765.2:c.2898G>A, XM_005265652.1:c.2691G>A, NC_000004.11:g.66197804C>T, 59528445, NM_182472.4:c.2829G>A, NC_000004.12:g.65332086=, rs7349683, NM_001281767.2:c.2898G>A, XP_005265708.1:p.Gly944=, XM_005265650.1:c.2898G>A, XP_005265710.1:p.Gly802=, 117692360, NC_000004.12:g.65332086C>A, XP_005265707.1:p.Gly966=, rs59528445, NC_000004.11:g.66197804C>A, XM_005265653.2:c.2406G>A, XP_005265709.1:p.Gly897=, XP_011530035.1:p.Gly897=, XM_011531735.1:c.2562G>A, rs117692360, NP_872272.2:p.Gly943=, NP_001268694.1:p.Gly966=, XM_005265651.1:c.2832G>A, NM_004439.7:c.2895G>A, NP_001305690.1:p.Gly897=, NP_001268695.1:p.Gly944=, NP_001268696.1:p.Gly966=, NC_000004.11:g.66197804=, XP_011530036.1:p.Gly897=, NM_001281766.2:c.2832G>A +PA166177466 rs7349744 PA29424 HPGD NC_000004.12:174503021 1 0 0 0 0 rs7349744, 7349744, NC_000004.12:g.174503021G>A, NG_011689.1:g.24621=, NG_011689.1:g.24621C>T, NC_000004.12:g.174503021=, 386609482, 17294380, NC_000004.11:g.175424172=, NC_000004.11:g.175424172G>A +PA166157847 rs73511817 NC_000009.12:108383745 1 0 0 0 0 NC_000009.12:g.108383745C>A, NC_000009.11:g.111146025C>A, NC_000009.11:g.111146025=, rs73511817, 73511817, NC_000009.12:g.108383745=, XR_930239.1:n.66-8149G>T +PA166155356 rs735482 PA155,PA142672156,PA34195 ERCC1,POLR1G,PPP1R13L NC_000019.10:45408744 3 1 0 0 0 rs735482, NM_001983.3:c.*931T>G, NM_012099.1:c.776A>C, NP_001284519.1:p.Lys261Arg, NC_000019.9:g.45912002A>C, NM_001297590.1:c.782A>C, NP_001284519.1:p.Lys261=, NC_000019.9:g.45912002A>G, NG_015839.2:g.75085=, 61340218, XP_005258482.1:p.Lys261Thr, NC_000019.10:g.45408744A>G, NC_000019.10:g.45408744=, NG_015839.2:g.75085T>G, 735482, XM_005258638.1:c.*931T>G, NP_036231.1:p.Lys259Thr, rs61340218, NG_015839.2:g.75085T>C, NC_000019.9:g.45912002=, NC_000019.10:g.45408744A>C, NM_001166049.1:c.*931T>G, NP_001284519.1:p.Lys261Thr, XM_005258425.1:c.782A>C +PA166235762 rs735668 PA36302 TACR1 NC_000002.12:75135918 1 1 0 0 0 NC_000002.11:g.75363044A>G, NC_000002.12:g.75135918A>C, NC_000002.11:g.75363044=, NC_000002.11:g.75363044A>C, NC_000002.12:g.75135918=, NG_029522.1:g.68602=, NG_029522.1:g.68602T>G, 386609526, 3755465, NG_029522.1:g.68602T>C, rs735668, 735668, NC_000002.12:g.75135918A>G +PA166263562 rs73568641 NC_000006.12:153704004 4 2 0 0 0 NC_000006.11:g.154025139T>C, NC_000006.12:g.153704004=, 73568641, NC_000006.12:g.153704004T>C, rs73568641, NC_000006.11:g.154025139= +PA166184602 rs73576470 PA31945 OPRM1 NC_000006.12:154141291 1 0 0 0 0 NG_021208.2:g.135791A>G, rs73576470, NC_000006.11:g.154462426A>G, 73576470, NC_000006.12:g.154141291=, NC_000006.11:g.154462426=, NC_000006.12:g.154141291A>G, NG_021208.2:g.135791= +PA166169897 rs73594404 NC_000016.10:53045702 2 1 0 0 0 NC_000016.9:g.53079614G>A, NC_000016.9:g.53079614=, rs73594404, NC_000016.10:g.53045702G>T, NC_000016.10:g.53045702G>A, NC_000016.9:g.53079614G>T, 73594404, NC_000016.10:g.53045702= +PA166176825 rs73598374 PA24503 ADA NC_000020.11:44651586 1 0 0 0 0 11555565, NP_000013.2:p.Asp8Tyr, NC_000020.11:g.44651586C>A, NC_000020.10:g.43280227C>A, NG_046759.1:g.22683C>A, rs73598374, NC_000020.11:g.44651586=, NG_046759.1:g.22683C>G, NG_007385.1:g.5150=, NG_007385.1:g.5150G>C, NC_000020.10:g.43280227C>T, NG_046759.1:g.22683=, NC_000020.10:g.43280227=, NG_007385.1:g.5150G>A, NP_000013.2:p.Asp8Asn, 73598374, NC_000020.11:g.44651586C>T, NG_046759.1:g.22683C>T, NC_000020.11:g.44651586C>G, NC_000020.10:g.43280227C>G, NP_000013.2:p.Asp8=, NP_000013.2:p.Asp8His, NG_007385.1:g.5150G>T +PA166203158 rs7364095 PA134875904 ABCC13 NC_000021.9:14297912 1 0 0 0 0 58204054, NC_000021.9:g.14297912=, NC_000021.8:g.15670233G>A, NC_000021.8:g.15670233=, 7364095, rs7364095, NC_000021.9:g.14297912G>A +PA166157510 rs73728712 PA27316 DGKI NC_000007.14:137555667 1 0 0 0 0 XM_005250688.1:c.1048-3099C>T, NM_004717.2:c.1948-3099C>T, XM_006716174.2:c.385-3099C>T, 73728712, XM_011516678.1:c.1792-3099C>T, NC_000007.14:g.137555667=, XM_011516683.1:c.919-3099C>T, XM_011516680.1:c.1363-3099C>T, XM_011516677.1:c.1777-3099C>T, XM_011516681.1:c.1351-3099C>T, XM_011516679.1:c.1792-3099C>T, XM_006716172.2:c.1792-3099C>T, NC_000007.13:g.137240413=, NC_000007.13:g.137240413G>A, NC_000007.14:g.137555667G>A, XM_011516684.1:c.886-3099C>T, rs73728712, XM_011516682.1:c.1948-3099C>T +PA166157218 rs73748206 PA28162 FKBP5 NC_000006.12:35640178 2 1 0 0 0 NM_001145775.2:c.105+2542G>A, NC_000006.12:g.35640178C>T, NC_000006.12:g.35640178=, XR_926743.1:n.287+6358C>T, NC_000006.11:g.35607955=, NM_001145776.1:c.105+2542G>A, NC_000006.11:g.35607955C>T, NM_001145777.1:c.105+2542G>A, 73748206, rs73748206, NG_012645.2:g.93406=, NG_012645.2:g.93406G>A, NM_004117.3:c.105+2542G>A +PA166156055 rs737865 PA117,PA38302 COMT,TXNRD2 NC_000022.11:19942598 3 0 0 0 0 XM_005261217.1:c.-795T>C, XM_005261229.1:c.-386+701A>G, NC_000022.10:g.19930121=, NG_011526.1:g.5859A>G, NG_011835.1:g.4239T>C, NM_006440.4:c.-795T>C, XM_005261216.1:c.-795T>C, XM_011529891.1:c.-386+423A>G, NC_000022.10:g.19930121A>G, NC_000022.11:g.19942598A>G, rs737865, NC_000022.11:g.19942598=, NM_000754.3:c.-92+701A>G, NG_011835.1:g.4239=, rs386609682, rs59045144, NM_001282512.1:c.-795T>C, XM_005261214.1:c.-795T>C, XM_011529890.1:c.-386+701A>G, 386609682, 59045144, NG_011526.1:g.5859=, XM_011529887.1:c.-92+701A>G, 737865 +PA166156056 rs737866 PA117,PA38302 COMT,TXNRD2 NC_000022.11:19942586 2 0 0 0 0 NG_011526.1:g.5847T>C, NG_011526.1:g.5847T>A, XM_011529891.1:c.-386+411T>C, rs17455584, rs737866, rs386609683, rs60054527, NC_000022.10:g.19930109=, XM_005261229.1:c.-386+689T>C, 17455584, 60054527, NM_001282512.1:c.-783A>G, NC_000022.10:g.19930109T>A, 386609683, NC_000022.10:g.19930109T>C, NM_000754.3:c.-92+689T>C, NM_006440.4:c.-783A>G, XM_011529890.1:c.-386+689T>C, XM_005261216.1:c.-783A>G, XM_011529887.1:c.-92+689T>C, NC_000022.11:g.19942586=, XM_005261217.1:c.-783A>G, NG_011526.1:g.5847=, NG_011835.1:g.4251A>T, NG_011835.1:g.4251=, NC_000022.11:g.19942586T>A, NC_000022.11:g.19942586T>C, XM_005261214.1:c.-783A>G, NG_011835.1:g.4251A>G, 737866 +PA166156695 rs73823859 PA361 UGT2B7 NC_000004.12:69096383 3 0 0 0 0 XM_011532229.1:c.-138G>A, XM_005265702.1:c.-26-2157G>A, NM_001074.2:c.-138G>A, XM_005265702.2:c.-26-2157G>A, rs73823859, 73823859, NC_000004.11:g.69962101G>A, NC_000004.12:g.69096383G>A, NC_000004.12:g.69096383=, NC_000004.11:g.69962101=, XM_011532231.1:c.-26-2157G>A, XM_011532230.1:c.-138G>A +PA166165078 rs738409 PA38592 PNPLA3 NC_000022.11:43928847 5 2 0 0 0 NC_000022.11:g.43928847=, 738409, 17855952, NG_008631.1:g.10109C>T, NC_000022.11:g.43928847C>G, NP_079501.2:p.Ile148Met, NC_000022.10:g.44324727C>G, rs738409, NP_079501.2:p.Ile148=, NC_000022.10:g.44324727=, NC_000022.10:g.44324727C>T, 3747205, NG_008631.1:g.10109C>G, NC_000022.11:g.43928847C>T, NG_008631.1:g.10109= +PA166156710 rs7387 PA143 DHFR NC_000005.10:80628972 1 0 0 0 0 7387, NC_000005.9:g.79924791T>A, NC_000005.9:g.79924791=, NM_001290354.1:c.*115A>T, XM_005248455.1:c.*115A>T, NR_110936.1:n.994A>T, rs7387, NG_023304.1:g.31010A>T, XM_005248456.1:c.*115A>T, NC_000005.10:g.80628972T>A, NM_000791.3:c.*115A>T, NM_001290357.1:c.*173A>T, NC_000005.10:g.80628972=, NG_023304.1:g.31010=, 1643633, rs3202536, 3202536, rs1643633 +PA166157626 rs7387065 PA26947 CSMD1 NC_000008.11:3045498 1 1 0 0 0 NC_000008.10:g.2903020A>G, XM_011534752.1:c.7660+6964T>C, XM_011534753.1:c.4753+6964T>C, 61144605, NC_000008.11:g.3045498A>G, NC_000008.11:g.3045498A>T, rs61144605, NC_000008.10:g.2903020A>T, NC_000008.10:g.2903020=, XM_011534754.1:c.3682+6964T>C, 7387065, NC_000008.11:g.3045498=, NM_033225.5:c.7660+6964T>C, rs7387065 +PA166257862 rs739296 PA24355,PA145147710 SEPTIN3,WBP2NL NC_000022.11:41993944 1 4 0 0 0 739296, NC_000022.11:g.41993944G>A, NC_000022.11:g.41993944=, rs739296, 61316355, NC_000022.10:g.42389948G>A, NC_000022.10:g.42389948= +PA166176384 rs73954926 PA134932567,PA25305 ACOXL,BCL2L11 NC_000002.12:111119598 1 0 0 0 0 NC_000002.12:g.111119598=, NG_029006.1:g.3685=, 73954926, NC_000002.12:g.111119598T>G, NC_000002.11:g.111877175=, NG_029006.1:g.3685T>G, rs73954926, NC_000002.11:g.111877175T>G +PA166184310 rs7395555 NC_000011.10:80347435 1 1 0 0 0 NC_000011.9:g.80058479G>C, rs7395555, 7395555, 17366729, NC_000011.9:g.80058479=, NC_000011.10:g.80347435G>C, NC_000011.10:g.80347435= +PA166155165 rs739645 PA26874 CRHR1 NC_000017.11:45817624 1 0 0 0 0 NT_167251.2:g.970559C=, NT_187663.1:g.519746T=, NM_001145147.1:c.122-3731G>T, NM_001145147.1:c.122-3731T>G, rs148938648, rs117808192, rs739645, NC_000017.11:g.45817624=, 117808192, NT_187663.1:g.519746T>G, NT_167251.2:g.970559C>A, NT_167251.1:g.972552C=, NC_000017.10:g.43894990T>A, NG_009902.1:g.38363T>G, NM_001303016.1:c.24+1042G>T, NM_001303016.1:c.24+1042T>G, NC_000017.10:g.43894990T>G, NG_009902.1:g.38363T=, NM_001145148.1:c.241+1042G>T, NM_001145148.1:c.241+1042T>G, NG_009902.1:g.38363T>A, NM_004382.4:c.241+1042G>T, NM_004382.4:c.241+1042T>G, NT_167251.1:g.972552C>A, 148938648, NC_000017.11:g.45817624T>G, NG_009902.1:g.38363=, NM_001256299.2:c.-285+1042G>T, NM_001256299.2:c.-285+1042T>G, NC_000017.11:g.45817624T>A, NM_001303018.1:c.-199+10528G>T, NM_001303018.1:c.-199+10528T>G, XM_005257060.1:c.24+1042G>T, XM_005257060.1:c.24+1042T>G, 739645, NC_000017.10:g.43894990=, NC_000017.11:g.45817624T=, NM_001303020.1:c.24+1042G>T, NM_001303020.1:c.24+1042T>G, NC_000017.10:g.43894990T=, NM_001145146.1:c.241+1042G>T, NM_001145146.1:c.241+1042T>G +PA166181409 rs739923 PA376 ABCC3 NC_000017.11:50658413 1 0 0 0 0 61453005, 3744520, NC_000017.11:g.50658413G>A, rs739923, NC_000017.11:g.50658413=, NC_000017.10:g.48735774G>A, 739923, NC_000017.10:g.48735774= +PA166288821 rs74019272 PA107 CES1 NC_000016.10:55810891 1 0 0 0 0 NG_012057.1:g.27273C>G, NC_000016.10:g.55810891G>C, NC_000016.9:g.55844803=, 74019272, NC_000016.9:g.55844803G>C, NC_000016.10:g.55810891G>A, NC_000016.9:g.55844803G>A, NC_000016.10:g.55810891=, NG_012057.1:g.27273C>T, rs74019272, NG_012057.1:g.27273= +PA166170018 rs7402844 PA38334 NEIL1 NC_000015.10:75345055 1 0 0 0 0 NC_000015.10:g.75345055=, 61394966, rs7402844, 7402844, NC_000015.9:g.75637396=, NC_000015.9:g.75637396C>G, NC_000015.10:g.75345055C>G +PA166199008 rs740406 PA134993717,PA134936152 DOT1L,PLEKHJ1 NC_000019.10:2232222 1 1 0 0 0 NC_000019.9:g.2232221A>T, NG_029793.1:g.73074=, 60265201, NC_000019.9:g.2232221=, NC_000019.9:g.2232221A>G, rs740406, NC_000019.10:g.2232222A>T, 740406, NC_000019.10:g.2232222=, NG_029793.1:g.73074A>T, NC_000019.10:g.2232222A>G, NG_029793.1:g.73074A>G +PA166171042 rs7405404 NC_000016.10:13656002 1 1 0 0 0 NC_000016.10:g.13656002=, NC_000016.10:g.13656002T>C, 58663577, rs7405404, 7405404, NC_000016.10:g.13656002T>G, NC_000016.9:g.13749859=, NC_000016.9:g.13749859T>A, NC_000016.9:g.13749859T>C, NC_000016.10:g.13656002T>A, NC_000016.9:g.13749859T>G +PA166156057 rs740603 PA117 COMT NC_000022.11:19957654 2 2 0 0 0 XM_011529889.1:c.-91-3545A>G, NC_000022.11:g.19957654A>G, XM_011529885.1:c.-331A>G, XM_005261229.1:c.-385-3545A>G, XM_011529891.1:c.-385-3545A>G, NG_011526.1:g.20915A>G, NM_000754.3:c.-91-3545A>G, rs740603, XM_011529886.1:c.-331A>G, XM_011529888.1:c.-91-3545A>G, XM_011529890.1:c.-385-3545A>G, 740603, NG_011526.1:g.20915=, NM_001135161.1:c.-91-3545A>G, XM_011529887.1:c.-91-3545A>G, NC_000022.11:g.19957654=, NM_001135162.1:c.-91-3545A>G, NC_000022.10:g.19945177=, NC_000022.10:g.19945177A>G +PA166185424 rs740873 PA33329 PIP5K1C NC_000019.10:3698335 1 0 0 0 0 NG_012161.1:g.7113=, rs740873, 386609900, NG_012161.1:g.7113C>T, NC_000019.10:g.3698335G>A, 58106842, NC_000019.9:g.3698333=, NG_012161.2:g.7113C>T, NC_000019.10:g.3698335=, NC_000019.9:g.3698333G>A, 740873, NG_012161.2:g.7113= +PA166154833 rs74090038 PA24684 AKT1 NC_000014.9:104796444 1 0 0 0 0 NG_012188.1:g.4300G>A, NG_012188.1:g.4300=, NM_001014432.1:c.-1125G>A, 74090038, NG_042073.1:g.264C>T, XM_011536544.1:c.-3397G>A, rs74090038, NC_000014.8:g.105262781=, NC_000014.9:g.104796444=, NC_000014.8:g.105262781C>T, XM_011536543.1:c.-2583G>A, NC_000014.9:g.104796444C>T, NG_042073.1:g.264=, NM_001014431.1:c.-1041G>A, XM_005267401.1:c.-2405G>A +PA166155341 rs7412 PA51,PA55 APOC1,APOE NC_000019.10:44908822 26 7 0 0 2 NC_000019.10:g.44908822C>T, XM_005258868.1:c.526C>T, XP_005258924.1:p.Arg202Cys, NC_000019.9:g.45412079=, NC_000019.9:g.45412079C>T, rs7412, NG_007084.2:g.8041=, NP_000032.1:p.Arg176Cys, NM_001302689.1:c.526C>T, NM_000041.3:c.526C>T, NP_001289618.1:p.Arg176Cys, NG_007084.2:g.8041C>T, rs3200542, 3200542, XM_005258867.1:c.604C>T, 7412, NM_001302688.1:c.604C>T, NP_001289617.1:p.Arg202Cys, XP_005258925.1:p.Arg176Cys, NC_000019.10:g.44908822=, NM_001302691.1:c.526C>T, NP_001289620.1:p.Arg176Cys, NP_000032.1:p.Arg176=, NP_001289619.1:p.Arg176Cys, NM_001302690.1:c.526C>T +PA166153787 rs7414551 PA134887396,PA142671166 KLHL17,PLEKHN1 NC_000001.11:964594 1 0 0 0 0 13303131, NC_000001.11:g.964594=, NG_027546.1:g.9008G>A, NG_027546.1:g.9008=, NM_198317.2:c.1700+64G>A, XM_011542248.1:c.-1938G>A, rs13303131, XM_011542250.1:c.-1938G>A, NC_000001.11:g.964594G>A, XM_006710600.2:c.1769+64G>A, XM_005244744.2:c.1613+64G>A, XM_005244744.1:c.1613+64G>A, XR_426604.2:n.2487+64G>A, XM_011542249.1:c.-1938G>A, 7414551, rs7414551, XM_006710944.2:c.-1938G>A, XM_005244809.1:c.-1938G>A, XM_005244745.1:c.971+64G>A, XR_946777.1:n.-1938G>A, NM_032129.2:c.-1938G>A, NM_001160184.1:c.-1938G>A, NC_000001.10:g.899974G>A, NC_000001.10:g.899974=, XR_426605.2:n.2568+64G>A +PA166156943 rs742105 PA27512 DTNBP1 NC_000006.12:15572843 1 1 0 0 0 NG_009309.1:g.95198G>A, rs742105, NC_000006.11:g.15573074=, NM_183040.2:c.511+20216G>A, NM_032122.4:c.511+20216G>A, XM_005249448.1:c.43+12876G>A, NG_009309.1:g.95198=, XM_011514936.1:c.421+20216G>A, 742105, NR_036448.1:n.839+20216G>A, NM_001271667.1:c.268+20216G>A, NM_001271669.1:c.406+20216G>A, NC_000006.12:g.15572843C>T, XM_005249447.1:c.472+20216G>A, XM_005249447.3:c.472+20216G>A, NC_000006.11:g.15573074C>T, NM_001271668.1:c.460+20216G>A, XM_011514937.1:c.43+12876G>A, NC_000006.12:g.15572843= +PA166181125 rs7427395 PA26013 CACNA2D3 NC_000003.12:54365581 1 0 0 0 0 7427395, rs7427395, NC_000003.11:g.54399608T>A, NC_000003.11:g.54399608=, NC_000003.11:g.54399608T>C, NC_000003.12:g.54365581T>A, NC_000003.12:g.54365581T>C, NC_000003.12:g.54365581= +PA166163131 rs7428575 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151356835 1 0 0 0 0 NC_000003.11:g.151074623T>G, rs7428575, NC_000003.12:g.151356835T>G, NG_016019.1:g.32922=, 61511975, NG_021244.1:g.274948=, NC_000003.12:g.151356835=, NC_000003.11:g.151074623=, 7428575, NG_016019.1:g.32922A>C, NG_021244.1:g.274948T>G +PA166179864 rs7432211 PA134900226 HTR3E NC_000003.12:184101367 1 0 0 0 0 NC_000003.11:g.183819155=, 58827612, NC_000003.12:g.184101367=, NC_000003.11:g.183819155T>C, NG_012452.1:g.6189=, rs7432211, NG_012452.1:g.6189T>C, 7432211, NC_000003.12:g.184101367T>C +PA166161401 rs743572 PA27090 CYP17A1 NC_000010.11:102837395 2 0 0 0 0 NG_055002.1:g.123A>T, 10444024, 58153826, NC_000010.10:g.104597152A>T, NG_007955.1:g.5139T>C, NG_007955.1:g.5139=, NC_000010.11:g.102837395A>G, NG_007955.1:g.5139T>A, NG_055002.1:g.123A>G, 743572, NC_000010.11:g.102837395=, NC_000010.10:g.104597152=, NG_055002.1:g.123=, rs743572, 17724397, NC_000010.11:g.102837395A>T, 17115138, 1799903, NC_000010.10:g.104597152A>G +PA166156895 rs74378198 PA32837 OSMR NC_000005.10:38870806 1 0 0 0 0 XM_005248386.1:c.73+1689A>G, rs74378198, XM_011514161.1:c.73+1689A>G, NG_016236.1:g.29949=, XM_005248385.1:c.73+1689A>G, NM_001168355.1:c.73+1689A>G, NC_000005.10:g.38870806A>G, NM_003999.2:c.73+1689A>G, XM_005248387.2:c.73+1689A>G, XM_005248387.1:c.73+1689A>G, 74378198, XR_925661.1:n.462+1689A>G, NC_000005.9:g.38870908=, NG_016236.1:g.29949A>G, NC_000005.9:g.38870908A>G, XM_005248386.2:c.73+1689A>G, NC_000005.10:g.38870806=, XM_005248384.1:c.73+1689A>G +PA166156617 rs7438135 PA361 UGT2B7 NC_000004.12:69095621 10 3 0 0 0 XM_011532231.1:c.-26-2919G>A, NC_000004.11:g.69961339=, NC_000004.12:g.69095621=, XM_011532230.1:c.-900G>A, 7438135, rs7438135, NC_000004.12:g.69095621G>A, NC_000004.12:g.69095621G>C, NC_000004.11:g.69961339G>C, NM_001074.2:c.-900G>A, NC_000004.11:g.69961339G>A, XM_011532229.1:c.-900G>A, XM_005265702.2:c.-26-2919G>A, XM_005265702.1:c.-26-2919G>A +PA166156618 rs7438284 PA361 UGT2B7 NC_000004.12:69098619 4 0 0 0 0 XM_011532230.1:c.801A>T, 58290492, XP_011530531.1:p.Pro267=, NC_000004.11:g.69964337=, XM_005265702.1:c.54A>T, NM_001074.2:c.801A>T, NC_000004.12:g.69098619=, XM_011532229.1:c.801A>T, rs58290492, XP_005265759.1:p.Pro18=, NC_000004.11:g.69964337A>T, rs7438284, 7438284, XM_011532231.1:c.54A>T, XM_005265702.2:c.54A>T, XP_011530533.1:p.Pro18=, XP_011530532.1:p.Pro267=, NC_000004.12:g.69098619A>T, NP_001065.2:p.Pro267= +PA166156619 rs7439366 PA361 UGT2B7 NC_000004.12:69098620 60 12 0 0 0 XM_011532230.1:c.802T>C, NM_001074.2:c.802T>C, 57980137, NP_001065.2:p.Tyr268=, NC_000004.11:g.69964338=, XM_005265702.1:c.55T>C, XP_005265759.1:p.Tyr19His, XP_011530533.1:p.Tyr19His, XM_011532229.1:c.802T>C, 34924067, 7439366, XP_011530532.1:p.Tyr268His, rs57980137, XP_011530531.1:p.Tyr268His, NC_000004.11:g.69964338T>C, rs7439366, NC_000004.12:g.69098620T>C, NC_000004.12:g.69098620=, rs34924067, XM_005265702.2:c.55T>C, XM_011532231.1:c.55T>C, NP_001065.2:p.Tyr268His +PA166273823 rs74418677 NC_000013.11:37272064 1 0 0 0 0 74418677, NC_000013.11:g.37272064G>C, rs74418677, NC_000013.11:g.37272064=, NC_000013.10:g.37846201G>C, NC_000013.10:g.37846201= +PA166157219 rs74423290 PA356 TPMT NC_000006.12:18133884 2 0 0 0 0 NC_000006.12:g.18133884=, NC_000006.12:g.18133884G>C, NC_000006.11:g.18134115G>C, XM_011514840.1:c.431C>G, NP_000358.1:p.Ala167=, XM_011514839.1:c.500C>G, 74423290, NC_000006.11:g.18134115=, NM_000367.3:c.500C>G, XP_011513142.1:p.Ala144Gly, NP_000358.1:p.Ala167Gly, NG_012137.2:g.26260C>G, rs74423290, XP_011513141.1:p.Ala167Gly, NG_012137.2:g.26260= +PA166169854 rs7443562 PA25921 C6 NC_000005.10:41198966 1 0 0 0 0 NG_011582.1:g.67473T>G, NG_011582.1:g.67473=, NG_011582.1:g.67473T>A, 57768869, NG_011582.1:g.67473T>C, NC_000005.10:g.41198966A>G, NC_000005.10:g.41198966A>T, NC_000005.9:g.41199068=, NC_000005.9:g.41199068A>C, NC_000005.9:g.41199068A>G, 7443562, 52813933, NC_000005.10:g.41198966=, NC_000005.9:g.41199068A>T, NC_000005.10:g.41198966A>C, rs7443562 +PA166288063 rs7447381 NC_000005.10:124065381 1 0 0 0 0 NC_000005.10:g.124065381=, rs7447381, 7447381, 59806330, NC_000005.9:g.123401074=, NC_000005.9:g.123401074C>T, NC_000005.10:g.124065381C>T +PA166178881 rs74478221 PA128 CYP2D6 NC_000022.11:42126624 455 79 79 0 0 NC_000022.10:g.42522626C>T, NC_000022.11:g.42126624C>T, NC_000022.11:g.42126624=, NC_000022.10:g.42522626=, rs74478221, NG_008376.4:g.9187=, NP_000097.3:p.Ala482Thr, NC_000022.11:g.42126624C>G, NC_000022.10:g.42522626C>G, NG_008376.3:g.8368=, 74478221, NG_008376.3:g.8368G>A, NG_008376.3:g.8368G>C, NP_000097.3:p.Ala482=, NG_008376.4:g.9187G>C, NP_000097.3:p.Ala482Pro, NG_008376.4:g.9187G>A +PA166230141 rs74497159 NC_000001.11:101409030 1 1 0 0 0 NC_000001.10:g.101874586T>G, NC_000001.11:g.101409030=, NC_000001.11:g.101409030T>G, NC_000001.10:g.101874586=, 74497159, rs74497159 +PA166157511 rs74503330 PA109 CFTR NC_000007.14:117642472 3 1 1 1 5 NC_000007.13:g.117282526=, XM_011515753.1:c.3509G>A, 74503330, XP_011514055.1:p.Ser1170Asn, NM_000492.3:c.3752G>A, NC_000007.14:g.117642472G>A, XP_011514053.1:p.Ser1281Asn, NC_000007.13:g.117282526G>A, XM_011515752.1:c.3842G>A, XM_011515751.1:c.3842G>A, NC_000007.14:g.117642472=, NP_000483.3:p.Ser1251=, rs74503330, XP_011514054.1:p.Ser1281Asn, NG_016465.4:g.181689G>A, NP_000483.3:p.Ser1251Asn, XP_011514056.1:p.Ser1170Asn, NG_016465.4:g.181689=, XM_011515754.1:c.3509G>A +PA166236541 rs745364489 PA25294 BCHE NC_000003.12:165829794 2 1 0 0 0 NC_000003.12:g.165829794G>A, NP_000046.1:p.Arg414=, rs745364489, NC_000003.11:g.165547582=, NC_000003.11:g.165547582G>A, NG_009031.1:g.12672=, NP_000046.1:p.Arg414Cys, NG_009031.1:g.12672C>T, NC_000003.12:g.165829794=, 745364489 +PA166156262 rs745365204 PA128 CYP2D6 NC_000022.11:42128848 3 2 2 0 0 NM_000106.5:c.602G>A, NM_000106.5:c.602G>C, NT_187682.1:g.51189C>T, XM_011529970.1:c.449G>A, 745365204, NM_001025161.2:c.449G>C, XR_430455.2:n.-1023C>T, XM_011529970.1:c.449G>C, NM_001025161.2:c.449G>A, XP_011528273.1:p.Arg153Pro, XP_011547121.1:p.Arg101Pro, NG_008376.4:g.6963G>C, XP_011528269.1:p.Arg201Pro, XP_011528272.1:p.Arg150Pro, NP_000097.3:p.Arg201=, XP_011528273.1:p.Arg153His, XP_011528272.1:p.Arg150His, rs745365204, XP_011528269.1:p.Arg201His, XP_011547121.1:p.Arg101His, NG_008376.4:g.6963G>A, XM_011529966.1:c.602G>A, XP_011546053.1:p.Arg129His, XM_011529966.1:c.602G>C, XP_005278410.1:p.Arg153Pro, XR_430455.2:n.-1023C>G, XM_011547756.1:c.-1187C>G, XM_005278354.1:c.302G>A, XP_005278410.1:p.Arg153His, XM_005278354.1:c.302G>C, XP_011528271.1:p.Arg153His, XM_011547756.1:c.-1187C>T, XP_011546052.1:p.Arg153His, NW_004504305.1:g.51175C>T, XP_011546052.1:p.Arg153Pro, XM_011548819.1:c.302G>A, XM_011548819.1:c.302G>C, XM_011547541.1:c.302G>A, XM_011547541.1:c.302G>C, NG_008376.3:g.6144G>C, XP_011528271.1:p.Arg153Pro, XP_011528274.1:p.Arg201His, NG_008376.3:g.6144G>A, NP_001020332.2:p.Arg150Pro, NW_009646208.1:g.14414C>G, NW_009646208.1:g.14414C>T, XM_011529971.1:c.458G>C, XM_011547751.1:c.386G>A, XM_011529967.1:c.602G>A, XM_011529971.1:c.458G>A, NC_000022.10:g.42524850=, XM_005278354.3:c.302G>A, XM_011529967.1:c.602G>C, XP_011545843.1:p.Arg101Pro, NP_000097.3:p.Arg201His, NC_000022.11:g.42128848=, XM_005278354.3:c.302G>C, XM_011529969.1:c.458G>C, NC_000022.10:g.42524850C>G, XM_011547751.1:c.386G>C, XM_011529972.1:c.602G>A, NW_004504305.1:g.51175C>G, XM_011529969.1:c.458G>A, XP_005278411.1:p.Arg101His, XM_011529972.1:c.602G>C, NG_008376.4:g.6963=, NP_001020332.2:p.Arg150His, XP_011528270.1:p.Arg201Pro, XP_011528274.1:p.Arg201Pro, XM_011529968.1:c.602G>A, XP_011545843.1:p.Arg101His, XP_011528268.1:p.Arg201Pro, NP_000097.3:p.Arg201Pro, NC_000022.11:g.42128848C>T, XP_005278411.1:p.Arg101Pro, XR_952745.1:n.1759G>C, XR_952745.1:n.1759G>A, NG_008376.3:g.6144=, NT_187682.1:g.51189C>G, XP_011528270.1:p.Arg201His, XM_005278353.1:c.458G>C, XP_011546053.1:p.Arg129Pro, XM_005278353.1:c.458G>A, XP_011528268.1:p.Arg201His, XM_011529968.1:c.602G>C, NC_000022.10:g.42524850C>T, XM_011547750.1:c.458G>C, NC_000022.11:g.42128848C>G, XM_011547750.1:c.458G>A +PA166153905 rs74546197 NC_000001.11:205911051 1 0 0 0 0 NC_000001.11:g.205911051=, NC_000001.10:g.205880179=, NC_000001.10:g.205880179G>A, NC_000001.11:g.205911051G>A, rs74546197, 74546197 +PA166162705 rs74551128 PA109 CFTR NC_000007.14:117548795 2 2 0 1 5 NC_000007.14:g.117548795=, NG_016465.4:g.88012C>T, NC_000007.13:g.117188849C>A, NP_000483.3:p.Ala455Glu, NC_000007.14:g.117548795C>T, NG_016465.4:g.88012=, rs74551128, NG_016465.4:g.88012C>A, NP_000483.3:p.Ala455=, NP_000483.3:p.Ala455Val, 74551128, NC_000007.13:g.117188849=, NC_000007.14:g.117548795C>A, NC_000007.13:g.117188849C>T +PA166268442 rs74569896 PA162397411 NECAB1 NC_000008.11:90925381 1 1 0 0 0 rs74569896, NC_000008.10:g.91937609A>G, 74569896, NC_000008.11:g.90925381=, NC_000008.11:g.90925381A>G, NC_000008.10:g.91937609= +PA166394481 rs74571530 PA109 CFTR NC_000007.14:117559594 0 0 0 0 1 NC_000007.14:g.117559594T>C, NC_000007.13:g.117199648T>G, 63389361, NP_000483.3:p.Phe508Tyr, rs74571530, NC_000007.13:g.117199648T>A, NC_000007.14:g.117559594T>A, NC_000007.13:g.117199648T>C, NP_000483.3:p.Phe508=, NG_016465.4:g.98811T>A, 74571530, 52789262, NC_000007.13:g.117199648=, NG_016465.4:g.98811T>C, NP_000483.3:p.Phe508Cys, 1800093, NC_000007.14:g.117559594T>G, NG_016465.4:g.98811=, NP_000483.3:p.Phe508Ser, NC_000007.14:g.117559594=, NG_016465.4:g.98811T>G +PA166156263 rs745746329 PA128 CYP2D6 NC_000022.11:42127614 1 1 0 0 0 NG_008376.3:g.7378G>A, NP_000097.3:p.Asp336Asn, NG_008376.3:g.7378=, XM_011547541.1:c.*112G>A, XM_005278354.1:c.706G>A, NC_000022.10:g.42523616C>T, NP_000097.3:p.Asp336=, XM_011547750.1:c.862G>A, XP_011546053.1:p.Asp264Asn, XM_005278354.3:c.706G>A, XM_005278353.1:c.862G>A, NM_000106.5:c.1006G>A, XM_011529972.1:c.864G>A, XP_011546052.1:p.Asp288Asn, NW_004504305.1:g.49941C>T, NC_000022.11:g.42127614=, XP_011528268.1:p.Asp336Asn, XP_011528273.1:p.Asp288Asn, XM_011548819.1:c.*112G>A, NM_001025161.2:c.853G>A, XM_011529969.1:c.862G>A, XM_011529971.1:c.862G>A, XM_011529970.1:c.853G>A, XP_005278410.1:p.Asp288Asn, NC_000022.11:g.42127614C>T, XM_011547751.1:c.790G>A, XP_011528270.1:p.Asp336Asn, 745746329, XM_011529966.1:c.1006G>A, XM_011529968.1:c.1006G>A, NG_008376.4:g.8197G>A, NP_001020332.2:p.Asp285Asn, XP_011528269.1:p.Asp336Asn, XR_952745.1:n.2021G>A, rs745746329, NW_009646208.1:g.13180C>T, XP_011528271.1:p.Asp288Asn, XP_011528274.1:p.Ser288=, NC_000022.10:g.42523616=, NG_008376.4:g.8197=, XP_005278411.1:p.Asp236Asn, NT_187682.1:g.49955C>T, XM_011529967.1:c.1006G>A, XP_011528272.1:p.Asp285Asn +PA166157512 rs74597325 PA109 CFTR NC_000007.14:117587811 1 0 0 0 0 XP_011514053.1:p.Arg583Gly, NP_000483.3:p.Arg553=, NC_000007.13:g.117227865C>G, NG_056131.3:g.766=, NG_016465.3:g.127028C>G, NG_056131.1:g.135C>G, NG_016465.4:g.127028C>G, XP_011514055.1:p.Arg472Ter, NC_000007.13:g.117227865=, NC_000007.14:g.117587811C>T, XP_011514054.1:p.Arg583Ter, NG_056131.1:g.135=, XP_011514056.1:p.Arg472Gly, NC_000007.14:g.117587811C>G, NG_016465.4:g.127028=, NP_000483.3:p.Arg553Gly, NM_000492.3:c.1657C>G, XM_011515752.1:c.1747C>T, XM_011515753.1:c.1414C>G, rs74597325, XM_011515751.1:c.1747C>T, XP_011514054.1:p.Arg583Gly, XP_011514056.1:p.Arg472Ter, XM_011515751.1:c.1747C>G, XM_011515752.1:c.1747C>G, NG_056131.3:g.766C>T, NM_000492.3:c.1657C>T, XM_011515754.1:c.1414C>G, NC_000007.14:g.117587811=, NP_000483.3:p.Arg553Ter, 74597325, XM_011515753.1:c.1414C>T, NC_000007.13:g.117227865C>T, XP_011514053.1:p.Arg583Ter, NG_056131.1:g.135C>T, NG_056131.3:g.766C>G, NG_016465.4:g.127028C>T, XM_011515754.1:c.1414C>T, XP_011514055.1:p.Arg472Gly +PA166179009 rs745975 PA29349 HNF4A NC_000020.11:44406053 1 0 0 0 0 3212182, rs745975, NC_000020.10:g.43034693=, 17828787, 58734728, NC_000020.10:g.43034693C>T, NC_000020.11:g.44406053=, NG_009818.1:g.55253=, NG_009818.1:g.55253C>T, 1800959, 745975, NC_000020.11:g.44406053C>T +PA166165231 rs746071566 PA134963132,PA36245 NUDT15,SUCLA2 NC_000013.11:48037783_48037801 26 8 5 0 0 NC_000013.10:g.48611920_48611925GAGTCG[2], NUDT15*9, NC_000013.10:g.48611920_48611925GAGTCG[4], NG_047021.1:g.5218_5223GAGTCG[4], 554405994, NUDT15*6, NG_047021.1:g.5218_5223GAGTCG[2], NP_060753.1:p.13_14GV[2], NP_060753.1:p.13_14GV[4], NC_000013.11:g.48037783_48037801=, 55_56insGAGTCG (V18_V19insGV), NC_000013.11:g.48037784GAGTCG[4], NC_000013.11:g.48037784_48037789GAGTCG[5], 50delGAGTCG (del17_18GV), NC_000013.11:g.48037784GAGTCG[2], rs746071566, NM_018283.3:c.50delGAGTCG, NG_047021.1:g.5217_5235=, NP_060753.1:p.Gly13_Val19=, NC_000013.10:g.48611920_48611925GAGTCG[5], NM_018283.3:c.55_56insGAGTCG, 746071566, rs869320766, NG_047021.1:g.5218_5223GAGTCG[5], NP_060753.1:p.13_14GV[5], NC_000013.11:g.48037784_48037789GAGTCG[4], rs554405994, NC_000013.11:g.48037784_48037789GAGTCG[2], NC_000013.10:g.48611919_48611937= +PA166170631 rs746460 NC_000008.11:74562294 1 0 0 0 0 58082238, NC_000008.10:g.75474529C>A, NC_000008.11:g.74562294=, rs746460, 746460, NC_000008.11:g.74562294C>T, NC_000008.10:g.75474529=, 386610382, NC_000008.11:g.74562294C>A, 17266979, NC_000008.10:g.75474529C>T +PA166156944 rs746647 PA134942738,PA33920 CCHCR1,PSORS1C2 NC_000006.12:31146405 1 1 0 0 0 9263747, XM_011547890.1:c.1314-597C>T, rs9263747, XM_011547893.1:c.1314-597C>T, XM_011548246.1:c.1608-597T>C, XR_952828.1:n.1858-597C>T, XM_005275268.1:c.1206-597T>C, XM_011547658.1:c.1314-597T>C, XM_011547255.1:c.1314-597C>T, NG_054878.1:g.16834T>C, XM_005274989.1:c.1314-597T>C, NM_019052.3:c.1314-597C>T, XM_005272837.1:c.1314-597T>C, XM_005274993.1:c.1206-597C>T, rs1265072, XM_005272834.1:c.1314-597T>C, XM_005274992.1:c.1314-597T>C, 1265072, XM_005272838.1:c.1206-597C>T, XM_011514705.1:c.1206-597C>T, XR_952944.1:n.1858-597C>T, XM_011547258.1:c.1206-597T>C, XM_011547260.1:c.486-597C>T, XM_005275424.1:c.1314-597T>C, NT_167245.2:g.2405727G>A, XM_006725702.1:c.1314-597C>T, XM_006725488.1:c.1314-597T>C, XM_011548249.1:c.1314-597T>C, XM_011547890.1:c.1314-597T>C, NT_167248.2:g.2404423A=, XM_011547889.1:c.1314-597T>C, XM_011547893.1:c.1314-597T>C, NT_167246.2:g.2456920A>G, XR_952943.1:n.1858-597T>C, XM_011548246.1:c.1608-597C>T, XM_011548055.1:c.1314-597T>C, XM_011548058.1:c.1314-597T>C, XM_011547255.1:c.1314-597T>C, NM_019052.3:c.1314-597T>C, XM_005274993.1:c.1206-597T>C, XM_005275140.1:c.486-597T>C, XM_011548059.1:c.1314-597C>T, XM_011514705.1:c.1206-597T>C, XM_011548056.1:c.1314-597C>T, XR_953006.1:n.1808-597T>C, NM_001105564.1:c.1581-597T>C, XM_011547258.1:c.1206-597C>T, XM_011547260.1:c.486-597T>C, XM_005272833.3:c.1314-597C>T, XM_005275424.1:c.1314-597C>T, XM_006725702.1:c.1314-597T>C, NC_000006.12:g.31146405A>G, XM_011547660.1:c.1206-597C>T, XM_011548249.1:c.1314-597C>T, XM_005275137.1:c.1314-597T>C, XR_952943.1:n.1858-597C>T, XM_005275140.1:c.486-597C>T, XM_005275265.1:c.1314-597T>C, XR_247374.1:n.1608-597T>C, 17190659, XM_005275422.1:c.1581-597C>T, NM_001105564.1:c.1581-597C>T, XR_953006.1:n.1808-597C>T, XM_005274988.3:c.1314-597C>T, NC_000006.11:g.31114182=, NM_001105563.1:c.1473-597C>T, rs115868860, XM_011547662.1:c.1314-597T>C, XM_005272839.1:c.486-597T>C, XM_011547659.1:c.1314-597T>C, XM_011547891.1:c.1314-597C>T, XM_005275137.1:c.1314-597C>T, XR_952828.1:n.1858-597T>C, XM_011548057.1:c.1314-597C>T, XM_005274989.1:c.1314-597C>T, XM_005272837.1:c.1314-597C>T, XM_011548251.1:c.486-597C>T, XM_005272834.1:c.1314-597C>T, XM_005275265.1:c.1314-597C>T, XM_005274992.1:c.1314-597C>T, rs59892691, XR_952944.1:n.1858-597T>C, NT_113891.3:g.2628836G=, XM_005274995.1:c.486-597T>C, XM_011547661.1:c.1206-597T>C, XM_005272840.1:c.486-597T>C, XM_011547662.1:c.1314-597C>T, XM_011547659.1:c.1314-597C>T, XM_011547891.1:c.1314-597T>C, XM_005274991.1:c.1314-597C>T, XM_011547657.1:c.1314-597C>T, NT_167246.2:g.2456920A=, XM_011547257.1:c.1206-597C>T, XM_011547256.1:c.1314-597T>C, XM_011547259.1:c.1314-597T>C, XM_011548057.1:c.1314-597T>C, XR_953005.1:n.1808-597T>C, XM_011514703.1:c.1314-597C>T, XM_011514706.1:c.1314-597C>T, XM_011548251.1:c.486-597T>C, XM_005275138.1:c.1314-597C>T, XM_005275423.1:c.1314-597C>T, XM_011548061.1:c.1206-597C>T, XM_005274995.1:c.486-597C>T, XM_011547661.1:c.1206-597C>T, XM_011548248.1:c.1314-597T>C, 59892691, rs118166432, NT_113891.3:g.2628836G>A, XM_005272840.1:c.486-597C>T, XM_005272833.1:c.1314-597C>T, XM_005275266.1:c.1314-597C>T, XM_005272836.1:c.1314-597C>T, XM_011547895.1:c.1206-597C>T, XM_005274987.1:c.1314-597T>C, XM_011547657.1:c.1314-597T>C, XM_005272832.1:c.1314-597T>C, XM_005272835.1:c.1314-597T>C, XM_011547257.1:c.1206-597T>C, XM_011547256.1:c.1314-597C>T, XM_011547259.1:c.1314-597C>T, NC_000006.12:g.31146405A=, XM_011514703.1:c.1314-597T>C, XM_011514706.1:c.1314-597T>C, XR_952829.1:n.1858-597T>C, XM_005275138.1:c.1314-597T>C, XM_005275269.1:c.486-597T>C, XR_247374.1:n.1608-597C>T, NG_054878.1:g.16834=, XM_005275422.1:c.1581-597T>C, XM_005275423.1:c.1314-597T>C, 118166432, XM_011548061.1:c.1206-597T>C, XM_005274988.3:c.1314-597T>C, XM_005274990.1:c.1314-597T>C, XM_005274988.1:c.1314-597C>T, NT_167247.2:g.2490533A>G, 746647, NM_001105563.1:c.1473-597T>C, NT_167247.2:g.2490533A=, 115868860, XM_005275266.1:c.1314-597T>C, XM_011514702.1:c.1500-597C>T, XM_005272839.1:c.486-597C>T, XM_011547663.1:c.486-597T>C, XM_011547895.1:c.1206-597T>C, XM_011547894.1:c.1206-597T>C, XM_005274987.1:c.1314-597C>T, XM_005275267.1:c.1314-597C>T, XR_247390.1:n.1608-597C>T, XM_011547889.1:c.1314-597C>T, XM_011548247.1:c.1500-597T>C, XM_005272832.1:c.1314-597C>T, XM_005272835.1:c.1314-597C>T, XM_011548055.1:c.1314-597C>T, XM_011548058.1:c.1314-597C>T, XM_005274994.1:c.486-597T>C, XM_011548250.1:c.1206-597C>T, XR_952829.1:n.1858-597C>T, XM_006726004.1:c.1314-597T>C, XM_011514704.1:c.1206-597T>C, XM_005275269.1:c.486-597C>T, XM_011548059.1:c.1314-597T>C, XM_011548245.1:c.1608-597T>C, rs746647, XM_011547254.1:c.1314-597T>C, XM_011548056.1:c.1314-597T>C, XM_005274990.1:c.1314-597C>T, XM_011547892.1:c.1314-597T>C, XM_005274988.1:c.1314-597T>C, XM_011547658.1:c.1314-597C>T, XM_005272833.3:c.1314-597T>C, NC_000006.11:g.31114182A>G, XM_005275139.1:c.1314-597C>T, NC_000006.12:g.31146405=, XM_011548060.1:c.1206-597T>C, XM_011514702.1:c.1500-597T>C, XM_011547660.1:c.1206-597T>C, XM_011547663.1:c.486-597C>T, XM_011547894.1:c.1206-597C>T, XM_005274991.1:c.1314-597T>C, XM_005275267.1:c.1314-597T>C, XR_247390.1:n.1608-597T>C, NT_167248.2:g.2404423A>G, XM_011548247.1:c.1500-597C>T, XM_005275268.1:c.1206-597C>T, XM_005274994.1:c.486-597C>T, XM_011548250.1:c.1206-597T>C, XR_953005.1:n.1808-597C>T, XM_011514704.1:c.1206-597C>T, XM_005272838.1:c.1206-597T>C, XM_006726004.1:c.1314-597C>T, rs17190659, XM_011548245.1:c.1608-597C>T, XM_011547254.1:c.1314-597C>T, XM_011548248.1:c.1314-597C>T, XM_011547892.1:c.1314-597C>T, NC_000006.11:g.31114182A=, NT_167245.2:g.2405727G=, XM_005275139.1:c.1314-597T>C, XM_005272833.1:c.1314-597T>C, XM_005272836.1:c.1314-597T>C, XM_011548060.1:c.1206-597C>T, XM_006725488.1:c.1314-597C>T +PA166156945 rs747199 PA154 SLC29A1 NC_000006.12:44226608 10 1 0 0 0 NC_000006.12:g.44226608=, NM_001304465.1:c.25-652G>C, NM_001304463.1:c.76-655G>C, NM_001304466.1:c.25-655G>C, 747199, 3799961, XM_005248878.3:c.-52+441G>C, XM_005248881.1:c.-483G>C, NC_000006.11:g.44194345=, NM_001078174.1:c.-54-652G>C, XM_011514341.1:c.187-652G>C, NM_001078176.2:c.-51-655G>C, NM_001304462.1:c.187-655G>C, rs3799961, rs747199, NM_001078177.1:c.-55+441G>C, XM_005248878.1:c.-52+441G>C, NC_000006.11:g.44194345G>C, NM_004955.2:c.-51-655G>C, XM_005248881.3:c.-483G>C, NG_042893.1:g.12104G>C, NC_000006.11:g.44194345G>A, NG_042893.1:g.12104G>A, XM_005248882.1:c.-486G>C, NM_001078175.2:c.-52+441G>C, NC_000006.12:g.44226608G>A, XM_005248877.1:c.76-655G>C, NC_000006.12:g.44226608G>C, NG_042893.1:g.12104=, XM_005248880.3:c.-55+441G>C, XM_005248879.1:c.-52+441G>C, XM_005248879.3:c.-52+441G>C, XM_005248876.1:c.76-652G>C, XM_005248882.3:c.-486G>C, XM_005248876.3:c.76-652G>C, XM_005248875.1:c.187-655G>C, XM_005248880.1:c.-55+441G>C +PA166177133 rs7472 PA38472,PA134991964 INVS,TEX10 NC_000009.12:100302248 1 1 0 0 0 56875234, 7472, NC_000009.11:g.103064530=, NC_000009.12:g.100302248G>A, NP_060216.2:p.Phe911Leu, NC_000009.12:g.100302248G>C, NC_000009.12:g.100302248G>T, 17858904, NC_000009.11:g.103064530G>C, NG_008316.1:g.208020G>C, NC_000009.11:g.103064530G>A, rs7472, NG_008316.1:g.208020=, NP_060216.2:p.Phe911=, 17353377, NC_000009.12:g.100302248=, NG_008316.1:g.208020G>A, 17845925, 3186353, NC_000009.11:g.103064530G>T, NG_008316.1:g.208020G>T, 1128948 +PA166307463 rs747309767 PA390 ABCG2 NC_000004.12:88101287 1 0 0 0 0 NG_032067.2:g.135036=, NP_004818.2:p.Gln437=, NC_000004.11:g.89022439T>C, NG_032067.2:g.135036A>C, NC_000004.12:g.88101287T>G, NG_032067.2:g.135036A>G, NC_000004.12:g.88101287T>C, NC_000004.11:g.89022439=, NC_000004.12:g.88101287=, NP_004818.2:p.Gln437Pro, rs747309767, NC_000004.11:g.89022439T>G, 747309767, NP_004818.2:p.Gln437Arg +PA166178428 rs74743371 PA25845 DOP1B NC_000021.9:36183667 2 1 0 0 0 rs74743371, NC_000021.9:g.36183667=, NC_000021.9:g.36183667G>T, NC_000021.8:g.37555965G>T, NC_000021.9:g.36183667G>C, 74743371, NC_000021.9:g.36183667G>A, NC_000021.8:g.37555965G>A, NC_000021.8:g.37555965G>C, NC_000021.8:g.37555965= +PA166157513 rs74767530 PA109 CFTR NC_000007.14:117627537 1 0 0 0 0 NG_016465.4:g.166754=, XM_011515752.1:c.3574C>T, NG_016465.4:g.166754C>T, NP_000483.3:p.Arg1162Ter, XP_011514053.1:p.Arg1192Ter, XP_011514056.1:p.Arg1081Ter, 74767530, XP_011514054.1:p.Arg1192Ter, NC_000007.14:g.117627537C>T, XM_011515754.1:c.3241C>T, XP_011514055.1:p.Arg1081Ter, NC_000007.13:g.117267591C>T, XM_011515753.1:c.3241C>T, XM_011515751.1:c.3574C>T, NC_000007.14:g.117627537=, NM_000492.3:c.3484C>T, NC_000007.13:g.117267591=, rs74767530, NP_000483.3:p.Arg1162= +PA166156018 rs74795342 NC_000021.9:18954018 1 1 0 0 0 74795342, rs74795342, NC_000021.9:g.18954018G>A, NC_000021.9:g.18954018=, NC_000021.8:g.20326336G>A, NC_000021.8:g.20326336= +PA166235962 rs74799832 PA34335 RET NC_000010.11:43121968 0 0 0 0 2 74799832, NC_000010.11:g.43121968T>C, rs74799832, NC_000010.10:g.43617416T>C, NG_007489.1:g.49900T>C, NC_000010.11:g.43121968=, NC_000010.10:g.43617416=, NP_066124.1:p.Met918=, NG_007489.1:g.49900=, NP_066124.1:p.Met918Thr +PA166178883 rs747998333 PA128 CYP2D6 NC_000022.11:42126622 455 79 79 0 0 NC_000022.10:g.42522624A>G, NG_008376.4:g.9189T>C, NC_000022.11:g.42126622A>G, NC_000022.11:g.42126622=, rs747998333, NG_008376.3:g.8370T>C, NP_000097.3:p.Ala482=, 747998333, NG_008376.4:g.9189=, NG_008376.3:g.8370=, NC_000022.10:g.42522624= +PA166153557 rs7483 PA29024 GSTM3 NC_000001.11:109737079 2 0 0 0 0 7483, rs52802282, NR_024537.1:n.904G>A, rs58618587, NC_000001.10:g.110279701=, NC_000001.10:g.110279701C>T, 17857997, 17845187, rs386610559, NP_000840.2:p.Val224=, XP_011539598.1:p.Val297Ile, 52802282, rs7483, rs17857997, NP_000840.2:p.Val224Ile, XM_011541296.1:c.889G>A, 386610559, 58618587, NC_000001.11:g.109737079=, NC_000001.11:g.109737079C>T, rs17845187, rs3167664, 3167664, NM_000849.4:c.670G>A +PA166209003 rs7483056 PA351 TH NC_000011.10:2169289 1 0 0 0 0 NC_000011.10:g.2169289A>G, 7483056, NC_000011.10:g.2169289=, rs7483056, NG_008128.1:g.7517=, NC_000011.9:g.2190519=, NG_008128.1:g.7517T>C, NC_000011.9:g.2190519A>G +PA166154605 rs7485210 NC_000012.12:131154308 1 0 0 0 0 NC_000012.12:g.131154308=, NC_000012.12:g.131154308A>T, NC_000012.12:g.131154308A>C, rs7485210, 7485210, rs57532866, NC_000012.11:g.131638853=, 57532866, NC_000012.11:g.131638853A>C, NC_000012.11:g.131638853A>T +PA166179513 rs748620513 PA145 DPYD NC_000001.11:97573799 2 1 0 0 0 NC_000001.10:g.98039355=, NG_008807.2:g.352261G>T, NP_000101.2:p.Val434Leu, NC_000001.10:g.98039355C>A, NG_008807.2:g.352261G>C, 748620513, NP_000101.2:p.Val434Phe, NC_000001.11:g.97573799C>G, NC_000001.10:g.98039355C>G, NC_000001.11:g.97573799C>A, NC_000001.11:g.97573799=, NP_000101.2:p.Val434=, rs748620513, NG_008807.2:g.352261= +PA166163214 rs748639205 PA145 DPYD NC_000001.11:97082415 1 0 0 0 0 NG_008807.2:g.843645=, rs748639205, NP_000101.2:p.Val941Ala, 748639205, NG_008807.2:g.843645T>G, NC_000001.11:g.97082415A>C, NC_000001.10:g.97547971A>C, NG_008807.2:g.843645T>C, NP_000101.2:p.Val941Gly, NC_000001.11:g.97082415A>G, NC_000001.10:g.97547971A>G, NP_000101.2:p.Val941=, NC_000001.11:g.97082415=, NC_000001.10:g.97547971= +PA166156264 rs748712690 PA128 CYP2D6 NC_000022.11:42127610 8 7 7 0 0 NC_000022.10:g.42523612=, XM_005278354.1:c.710A>G, XP_011528269.1:p.Asp337Gly, 748712690, NG_008376.3:g.7382A>G, XP_011528272.1:p.Asp286Gly, rs748712690, XM_011529968.1:c.1010A>G, XM_011529967.1:c.1010A>G, NW_004504305.1:g.49937T>C, XM_011529966.1:c.1010A>G, XP_011528273.1:p.Asp289Gly, NG_008376.3:g.7382=, NC_000022.10:g.42523612T>C, XP_011528271.1:p.Asp289Gly, NG_008376.4:g.8201=, XM_005278353.1:c.866A>G, XM_011529972.1:c.868A>G, XP_005278411.1:p.Asp237Gly, NG_008376.4:g.8201A>G, XM_011547750.1:c.866A>G, NP_001020332.2:p.Asp286Gly, XP_011546052.1:p.Asp289Gly, NC_000022.11:g.42127610=, NW_009646208.1:g.13176T>C, NM_001025161.2:c.857A>G, XM_011529970.1:c.857A>G, XM_011529971.1:c.866A>G, XP_011546053.1:p.Asp265Gly, NC_000022.11:g.42127610T>C, XM_005278354.3:c.710A>G, XM_011547751.1:c.794A>G, XM_011548819.1:c.*116A>G, NP_000097.3:p.Asp337Gly, NP_000097.3:p.Asp337=, XM_011529969.1:c.866A>G, NM_000106.5:c.1010A>G, XP_005278410.1:p.Asp289Gly, XP_011528274.1:p.Thr290Ala, XM_011547541.1:c.*116A>G, XP_011528268.1:p.Asp337Gly, XP_011528270.1:p.Asp337Gly, NT_187682.1:g.49951T>C, XR_952745.1:n.2025A>G +PA166154234 rs749060448 PA126 CYP2C9 NC_000010.11:94981281 2 0 0 0 0 XP_005269632.1:p.Glu354Lys, NG_008385.2:g.48124G>C, NG_008385.2:g.48124G>A, NC_000010.11:g.94981281G>T, NG_008385.1:g.47624=, NP_000762.2:p.Glu354Lys, NC_000010.10:g.96741038G>A, NC_000010.10:g.96741038G>C, XM_005269575.1:c.1060G>A, NG_008385.1:g.47624G>C, NG_008385.1:g.47624G>A, NG_008385.2:g.48124=, NC_000010.10:g.96741038G>T, 749060448, NC_000010.10:g.96741038=, NG_008385.1:g.47624G>T, rs749060448, NC_000010.11:g.94981281=, NP_000762.2:p.Glu354=, NP_000762.2:p.Glu354Gln, NG_008385.2:g.48124G>T, NM_000771.3:c.1060G>A, NP_000762.2:p.Glu354Ter, NC_000010.11:g.94981281G>C, NC_000010.11:g.94981281G>A +PA166154849 rs749292 PA27091 CYP19A1 NC_000015.10:51266534 3 1 0 0 0 XM_005254191.1:c.-38-23584C>T, NC_000015.10:g.51266534=, NC_000015.10:g.51266534G>A, NC_000015.9:g.51558731G>A, NM_031226.2:c.-38-23584C>T, 60112531, XR_932222.1:n.99-11449G>A, NG_007982.1:g.77065C>T, NM_000103.3:c.-38-23584C>T, XR_932221.1:n.4170G>A, rs749292, NG_007982.1:g.77065=, rs60112531, NC_000015.9:g.51558731=, 749292, XR_932220.1:n.4170G>A +PA166156185 rs74966855 PA128 CYP2D6 NC_000022.11:42131289 2 0 0 0 0 XR_952537.1:n.-1154G>T, XM_005278354.1:c.-2051C>A, XM_011547750.1:c.37+8C>A, NG_008376.3:g.3703C>A, XR_952745.1:n.660C>A, XR_952536.1:n.-1154G>T, NC_000022.10:g.42527291=, XM_011529971.1:c.37+8C>A, XM_011547541.1:c.-2051C>A, XM_011547756.1:c.42+1066G>T, NG_008376.3:g.3703=, NC_000022.10:g.42527291G>T, NM_000106.5:c.-498C>A, NT_187682.1:g.53630G>T, XM_011548819.1:c.-2051C>A, NC_000022.11:g.42131289G>T, XM_011529972.1:c.-498C>A, NM_001025161.2:c.-498C>A, XM_011529970.1:c.-498C>A, NG_008376.4:g.4522=, XM_005278354.3:c.-2051C>A, 74966855, NW_004504305.1:g.53616G>T, NG_008376.4:g.4522C>A, NW_009646208.1:g.16855G>T, XM_011529969.1:c.37+8C>A, NG_055460.1:g.574=, rs74966855, XM_005278353.1:c.-498C>A, XM_011529966.1:c.-498C>A, XM_011529967.1:c.-498C>A, XR_430455.2:n.328+601G>T, XM_011547751.1:c.-1711C>A, XM_011529968.1:c.-498C>A, XR_952539.1:n.-865G>T, NG_055460.1:g.574G>T, XR_952538.1:n.-1154G>T, NC_000022.11:g.42131289= +PA166154994 rs749671 PA133787052,PA134955953 VKORC1,ZNF646 NC_000016.10:31077026 1 0 0 0 0 XM_005255711.1:c.702G>A, 749671, NC_000016.9:g.31088347G>A, rs17846139, NC_000016.10:g.31077026=, rs749671, XM_005255712.1:c.702G>A, rs386610694, 17846139, XM_005255710.2:c.702G>A, 17859147, NP_055514.3:p.Glu234=, NM_014699.3:c.702G>A, XM_011545990.1:c.702G>A, NC_000016.9:g.31088347=, NC_000016.10:g.31077026G>T, NC_000016.9:g.31088347G>T, XP_011544292.1:p.Glu234=, XM_005255711.2:c.702G>A, rs17859147, NP_055514.3:p.Glu234Asp, XM_005255710.1:c.702G>A, XP_005255768.1:p.Glu234=, 386610694, XP_005255769.1:p.Glu234=, NC_000016.9:g.31088347G>C, XP_005255767.1:p.Glu234=, NC_000016.10:g.31077026G>A, NC_000016.10:g.31077026G>C, XM_005255712.2:c.702G>A +PA166181741 rs749678783 PA124 CYP2C19 NC_000010.11:94781942 3 0 0 0 0 NC_000010.11:g.94781942=, NP_000760.1:p.Met255Lys, NC_000010.10:g.96541699=, rs749678783, NG_008384.3:g.24262T>C, NP_000760.1:p.Met255Thr, 749678783, NC_000010.11:g.94781942T>C, NC_000010.11:g.94781942T>A, NG_008384.3:g.24262T>A, NP_000760.1:p.Met255=, NC_000010.10:g.96541699T>A, NC_000010.10:g.96541699T>C, NG_008384.3:g.24262= +PA166154479 rs74973995 NC_000011.10:97091052 1 0 0 0 0 rs386492065, rs74973995, 74973995, NC_000011.9:g.96962052A>G, NC_000011.10:g.97091052A>G, 386492065, NC_000011.10:g.97091052=, NC_000011.9:g.96962052= +PA166155971 rs7499 PA26711,PA327 COL18A1,SLC19A1 NC_000021.9:45512414 3 0 0 0 0 NM_130445.2:c.*16G>A, XM_005261180.1:c.*16G>A, 7499, XM_011529707.1:c.1585-9445C>T, rs7499, NC_000021.8:g.46932328G>A, NM_130445.3:c.*16G>A, XM_005261178.1:c.*16G>A, 61437544, NG_011903.1:g.112223G>A, XM_005261182.1:c.*16G>A, NC_000021.9:g.45512414G>A, NC_000021.8:g.46932328=, NM_130444.2:c.*16G>A, NC_000021.9:g.45512414=, NM_030582.3:c.*16G>A, NG_011903.1:g.112223=, NG_028278.2:g.55730C>T, 3190718, XM_005261181.1:c.*16G>A, rs3190718, rs61437544, XM_005261179.1:c.*16G>A, NG_028278.2:g.55730= +PA166207803 rs750097042 PA126 CYP2C9 NC_000010.11:94942246 1 0 0 0 0 NP_000762.2:p.Met129=, NP_000762.2:p.Met129Lys, NG_008385.2:g.9089T>C, NG_008385.2:g.9089T>A, NG_008385.1:g.8589=, rs750097042, NC_000010.11:g.94942246=, NG_008385.2:g.9089=, 750097042, NC_000010.11:g.94942246T>A, NC_000010.10:g.96702003T>C, NC_000010.11:g.94942246T>C, NC_000010.10:g.96702003T>A, NC_000010.10:g.96702003=, NG_008385.1:g.8589T>A, NP_000762.2:p.Met129Thr, NG_008385.1:g.8589T>C +PA166154995 rs750155 PA166123718,PA343 NPIPB8,SULT1A1 NC_000016.10:28609251 2 0 0 0 0 NM_177530.2:c.-197G>A, 750155, NG_028128.1:g.19295G>A, NG_028128.1:g.19295=, NM_177529.2:c.-35-361G>A, NC_000016.10:g.28609251C>T, NM_177534.2:c.-396G>A, rs750155, NC_000016.10:g.28609251=, NM_001310136.1:c.121-142349G>A, NM_177536.3:c.139-2174G>A, XM_005255522.1:c.-4-392G>A, NC_000016.9:g.28620572C>T, NC_000016.9:g.28620572=, NM_001055.3:c.-4-392G>A +PA166163603 rs750165758 PA328 SLCO1A2 NC_000012.12:21304457 1 0 0 0 0 750165758, NC_000012.11:g.21457391=, NC_000012.12:g.21304457C>T, NP_602307.1:p.Ala187Thr, rs750165758, NC_000012.12:g.21304457=, NP_602307.1:p.Ala187=, NC_000012.11:g.21457391C>T +PA166153906 rs75017182 PA145 DPYD NC_000001.11:97579893 18 3 0 0 0 NC_000001.11:g.97579893G>C, NG_008807.2:g.346167=, NM_000110.3:c.1129-5923C>G, rs75017182, XM_005270563.1:c.1129-5923C>G, NG_008807.2:g.346167C>G, NC_000001.10:g.98045449=, DPYD HapB3, 75017182, XM_005270561.1:c.1018-5923C>G, NG_008807.2:g.346167C>A, NC_000001.10:g.98045449G>T, NC_000001.11:g.97579893=, NC_000001.11:g.97579893G>T, XM_005270562.1:c.1129-5923C>G, XM_005270562.3:c.1129-5923C>G, XM_005270564.1:c.1129-5923C>G, XM_006710397.2:c.1129-5923C>G, NC_000001.10:g.98045449G>C +PA166156946 rs750332 PA25264,PA25263 BAG6,PRRC2A NC_000006.12:31639273 1 1 0 0 0 XM_005275470.1:c.3283-47A>G, XM_011547299.1:c.3424-47G>A, XM_006725839.1:c.3391-47G>A, XM_005275472.1:c.3136-47A>G, XM_011547297.1:c.3427-47A>G, XM_005275035.1:c.3394-47A>G, XM_011547708.1:c.3139-47G>A, XM_011548283.1:c.3427-47G>A, XM_006726034.1:c.3136-47A>G, XM_005275298.1:c.3250-47A>G, XM_006715203.1:c.2992-47G>A, XM_011547926.1:c.3208-47A>G, XM_011514894.1:c.3427-47A>G, NM_080702.2:c.3286-47A>G, NM_001098534.1:c.3286-47G>A, XM_011547920.1:c.3373-47A>G, NT_167248.2:g.2895090T=, XM_011547300.1:c.3373-47A>G, XM_011547917.1:c.3427-47A>G, XM_005275041.1:c.3136-47G>A, XM_006725844.1:c.3136-47G>A, rs115961006, XM_011547695.1:c.3427-47G>A, XM_005275170.1:c.3394-47G>A, XM_011547928.1:c.3136-47A>G, XM_005275467.1:c.3391-47A>G, XM_011547919.1:c.3424-47G>A, XM_011547694.1:c.3427-47G>A, XM_006725846.1:c.2992-47A>G, XM_005275036.1:c.3391-47G>A, XM_005275601.1:c.3340-47G>A, XM_005275294.1:c.3391-47A>G, XM_006725932.1:c.3136-47G>A, XM_005272881.1:c.3394-47G>A, XM_005275297.1:c.3283-47G>A, XM_005275040.1:c.3250-47A>G, XM_011547307.1:c.3208-47A>G, XM_005275034.1:c.3394-47A>G, XM_011547296.1:c.3427-47A>G, XM_011548277.1:c.3427-47G>A, XM_005272883.1:c.3340-47A>G, XM_011547304.1:c.3283-47A>G, 115961006, XM_006725841.1:c.3283-47G>A, XM_011548289.1:c.3337-47G>A, XM_011548479.1:c.3280-47G>A, XM_011548482.1:c.3139-47G>A, XM_005275469.1:c.3328-47G>A, NT_167247.2:g.2981152T=, XM_011514902.1:c.3283-47A>G, XM_011548469.1:c.3427-47A>G, NM_004639.3:c.3304-47G>A, XM_011547915.1:c.3427-47A>G, XM_011547309.1:c.3136-47A>G, XM_011548476.1:c.3373-47G>A, XM_011548093.1:c.3232-47A>G, XM_011514906.1:c.3139-47A>G, XM_006726119.1:c.3283-47G>A, XM_011548089.1:c.3373-47G>A, XM_011548287.1:c.3373-47A>G, NM_080703.2:c.3286-47A>G, XM_011514905.1:c.3208-47A>G, XM_005272884.1:c.3328-47G>A, XM_011548295.1:c.3136-47G>A, XM_011547696.1:c.3427-47G>A, XM_006725835.1:c.3394-47A>G, XM_005249401.1:c.3103-47A>G, XM_011548294.1:c.3139-47A>G, XM_005275606.1:c.3103-47G>A, XM_011547291.1:c.3427-47G>A, XM_005249399.1:c.3250-47G>A, XM_011548086.1:c.3427-47A>G, XM_011548475.1:c.3373-47A>G, XM_011547301.1:c.3373-47A>G, XM_005275172.1:c.3340-47A>G, XM_011514896.1:c.3427-47A>G, XM_011548090.1:c.3337-47G>A, XM_005275296.1:c.3328-47G>A, XM_011548293.1:c.3208-47G>A, XM_005249393.1:c.3394-47A>G, XM_006726031.1:c.3283-47A>G, XM_005275037.1:c.3340-47G>A, XM_011548291.1:c.3280-47G>A, XM_005275600.1:c.3391-47G>A, XM_005275468.1:c.3340-47A>G, XM_005275295.1:c.3340-47A>G, XM_006726025.1:c.3394-47G>A, XM_011514897.1:c.3427-47G>A, NM_001199698.1:c.3139-47G>A, XM_005272887.1:c.3136-47A>G, XM_011548278.1:c.3427-47G>A, XM_011548282.1:c.3427-47G>A, XM_011547916.1:c.3427-47A>G, XM_011548288.1:c.3373-47A>G, XM_011514904.1:c.3232-47G>A, XM_006715198.1:c.3283-47G>A, XM_005249400.1:c.3136-47G>A, XM_006725509.1:c.3394-47A>G, XM_011514893.1:c.3427-47A>G, XM_011548478.1:c.3283-47A>G, XM_011548083.1:c.3427-47G>A, XM_011548281.1:c.3427-47A>G, XM_011548468.1:c.3427-47A>G, XM_005275042.1:c.3103-47A>G, XM_011548292.1:c.3232-47G>A, 9267524, XM_005272885.1:c.3283-47G>A, XM_006726036.1:c.2992-47G>A, XM_005275299.1:c.3136-47G>A, XM_011514903.1:c.3280-47G>A, XM_011548484.1:c.3190-47A>G, NM_004639.3:c.3304-47A>G, NC_000006.11:g.31607050C>T, XM_011514891.1:c.3427-47A>G, XM_011547309.1:c.3136-47G>A, XM_005275599.1:c.3394-47A>G, XM_011548476.1:c.3373-47A>G, XM_011514900.1:c.3373-47A>G, XM_011547700.1:c.3424-47G>A, 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XM_011548466.1:c.3427-47A>G, XM_005275171.1:c.3391-47G>A, XM_005275606.1:c.3103-47A>G, XM_011548096.1:c.3136-47A>G, XM_011514908.1:c.3190-47A>G, 117209252, XM_011547921.1:c.3373-47G>A, XM_011547301.1:c.3373-47G>A, XM_011548097.1:c.3190-47A>G, XM_005272886.1:c.3250-47A>G, XM_011548087.1:c.3424-47G>A, XM_011548285.1:c.3424-47A>G, rs3180665, XM_011548465.1:c.3427-47G>A, XM_011547298.1:c.3427-47G>A, XM_005275465.1:c.3394-47G>A, XM_005275600.1:c.3391-47A>G, XM_011514901.1:c.3337-47G>A, XM_011547699.1:c.3427-47A>G, XM_011547293.1:c.3427-47G>A, NM_001199698.1:c.3139-47A>G, XM_011547709.1:c.3136-47G>A, XM_006725734.1:c.3136-47A>G, XM_005275177.1:c.3103-47G>A, XM_005275598.1:c.3394-47G>A, XM_005249396.1:c.3340-47G>A, 750332, XM_011548467.1:c.3427-47A>G, XM_005275292.1:c.3394-47G>A, XM_011514904.1:c.3232-47A>G, XM_011548082.1:c.3427-47G>A, XM_011548280.1:c.3427-47A>G, XM_006715192.1:c.3394-47G>A, XM_011548481.1:c.3208-47A>G, NC_000006.12:g.31639273C=, XM_005275175.1:c.3250-47A>G, XM_011547294.1:c.3427-47A>G, XM_011548092.1:c.3280-47A>G, XM_005275605.1:c.3136-47A>G, XM_011547701.1:c.3373-47A>G, 3180665, XM_011547305.1:c.3280-47A>G, XM_011547698.1:c.3427-47G>A, XM_011514903.1:c.3280-47A>G, XM_011547306.1:c.3232-47A>G, XM_011548290.1:c.3283-47A>G, XM_011548296.1:c.3190-47G>A, XM_005275599.1:c.3394-47G>A, XM_011514900.1:c.3373-47G>A, XM_011547700.1:c.3424-47A>G, XM_011514898.1:c.3424-47G>A, XM_011548472.1:c.3427-47G>A, XM_005275174.1:c.3283-47A>G, 386610762, rs750332, XM_005275464.1:c.3394-47G>A, XM_006725725.1:c.3394-47A>G, XM_005275176.1:c.3136-47A>G, XM_011547707.1:c.3208-47A>G, XM_011548474.1:c.3373-47A>G, XM_011547710.1:c.3190-47G>A, XM_011547300.1:c.3373-47G>A, XM_011548095.1:c.3139-47G>A, XM_011548284.1:c.3427-47G>A, XM_005275041.1:c.3136-47A>G, XM_011547928.1:c.3136-47G>A, XM_011547929.1:c.3190-47A>G, XM_005275466.1:c.3394-47A>G, XM_011547918.1:c.3427-47A>G, NT_167248.2:g.2895090T>C, XM_011548477.1:c.3337-47A>G, XM_005275038.1:c.3328-47A>G, XM_006725846.1:c.2992-47G>A, XM_011547308.1:c.3139-47A>G, XM_011547302.1:c.3373-47A>G, XM_005275601.1:c.3340-47A>G, XM_011548091.1:c.3283-47G>A, NT_167245.2:g.2887036T=, XM_011514899.1:c.3373-47G>A, XM_011548473.1:c.3424-47A>G, XM_011514895.1:c.3427-47A>G, NT_167246.2:g.2944313T=, XM_011547697.1:c.3427-47G>A, XM_005275173.1:c.3328-47A>G, XM_011514907.1:c.3136-47A>G, XM_006726113.1:c.3394-47G>A, XM_005249395.1:c.3391-47G>A, XM_011548084.1:c.3427-47A>G, XM_011547307.1:c.3208-47G>A, NT_167246.2:g.2944313T>C, XM_006726124.1:c.2992-47G>A, XM_011548471.1:c.3427-47G>A, XM_005272880.1:c.3394-47G>A, XM_011547925.1:c.3232-47G>A, XM_011548289.1:c.3337-47A>G, XM_011547295.1:c.3427-47A>G, XM_005249397.1:c.3328-47A>G, XM_011548081.1:c.3427-47G>A, XM_005249398.1:c.3283-47A>G, XM_011514902.1:c.3283-47G>A, XM_011548088.1:c.3373-47G>A, XM_011548286.1:c.3373-47A>G, XM_011514892.1:c.3427-47G>A, XM_011547703.1:c.3337-47A>G +PA166157514 rs75039782 PA109 CFTR NC_000007.14:117639961 3 2 0 0 3 NC_000007.14:g.117639961=, NC_000007.13:g.117280015=, NC_000007.13:g.117280015C>T, 75039782, XM_011515751.1:c.3808-2477C>T, NG_062449.1:g.167C>T, XM_011515752.1:c.3808-2477C>T, NC_000007.14:g.117639961C>G, XM_011515753.1:c.3475-2477C>T, NG_016465.4:g.179178C>T, NG_062449.1:g.167C>G, NC_000007.13:g.117280015C>G, rs75039782, NG_016465.4:g.179178=, NG_016465.4:g.179178C>G, NG_062449.1:g.167=, NM_000492.3:c.3717+12191C>T, NC_000007.14:g.117639961C>T, XM_011515754.1:c.3475-2477C>T +PA166170236 rs75041078 PA142670743 TMEM91 NC_000019.10:41371586 1 1 0 0 0 75041078, NC_000019.10:g.41371586=, NC_000019.9:g.41877491G>C, rs75041078, NC_000019.9:g.41877491G>A, NC_000019.10:g.41371586G>A, NC_000019.10:g.41371586G>C, NC_000019.9:g.41877491= +PA166181412 rs750424422 PA356 TPMT NC_000006.12:18149022 1 1 1 0 0 750424422, NC_000006.11:g.18149253C>T, NG_012137.2:g.11122=, NP_000358.1:p.Gly36=, rs750424422, NC_000006.12:g.18149022C>T, NG_012137.2:g.11122G>A, NP_000358.1:p.Gly36Ser, NC_000006.12:g.18149022=, NC_000006.11:g.18149253= +PA166179696 rs750575779 PA344 SULT1A3 NC_000016.10:30200771 4 3 0 0 0 rs750575779, NC_000016.10:g.30200771G>A, 750575779, NC_000016.9:g.30212092=, NP_808220.1:p.Val15=, NP_808220.1:p.Val15Met, NC_000016.10:g.30200771=, NC_000016.9:g.30212092G>A +PA166154235 rs750820937 PA126 CYP2C9 NC_000010.11:94981250 2 2 2 0 0 NG_008385.2:g.48093=, NP_000762.2:p.Ser343=, rs750820937, NC_000010.10:g.96741007=, NG_008385.1:g.47593C>A, NC_000010.11:g.94981250=, NC_000010.11:g.94981250C>A, NM_000771.3:c.1029C>A, NG_008385.1:g.47593=, NG_008385.2:g.48093C>A, XP_005269632.1:p.Ser343Arg, NP_000762.2:p.Ser343Arg, 750820937, XM_005269575.1:c.1029C>A, NC_000010.10:g.96741007C>A +PA166156265 rs750996195 PA128 CYP2D6 NC_000022.11:42127596 1 1 0 0 0 XM_011529969.1:c.880G>A, NG_008376.4:g.8215G>A, XM_011547751.1:c.808G>A, NC_000022.11:g.42127596=, NG_008376.3:g.7396G>T, NG_008376.3:g.7396=, NW_009646208.1:g.13162C>T, XM_011548819.1:c.*130G>A, XP_011528268.1:p.Val342Met, NP_000097.3:p.Val342Met, XM_011529970.1:c.871G>A, XM_011529971.1:c.880G>A, NG_008376.4:g.8215=, NP_000097.3:p.Val342Leu, XM_005278354.1:c.724G>A, XM_011547541.1:c.*130G>A, XM_011529966.1:c.1024G>A, XM_011529968.1:c.1024G>A, NT_187682.1:g.49937C>T, XP_011546053.1:p.Val270Met, NC_000022.11:g.42127596C>A, NC_000022.10:g.42523598=, XP_011546052.1:p.Val294Met, XM_011529967.1:c.1024G>A, XP_005278410.1:p.Val294Met, XR_952745.1:n.2039G>A, NM_000106.5:c.1024G>A, NP_001020332.2:p.Val291Met, XM_005278353.1:c.880G>A, XM_011529972.1:c.*9G>A, NC_000022.10:g.42523598C>T, XP_011528272.1:p.Val291Met, NC_000022.11:g.42127596C>T, XP_011528270.1:p.Val342Met, XP_011528273.1:p.Val294Met, NM_001025161.2:c.871G>A, NG_008376.4:g.8215G>T, XM_005278354.3:c.724G>A, 750996195, NG_008376.3:g.7396G>A, XM_011547750.1:c.880G>A, XP_005278411.1:p.Val242Met, XP_011528271.1:p.Val294Met, NP_000097.3:p.Val342=, rs750996195, NW_004504305.1:g.49923C>T, XP_011528269.1:p.Val342Met, NC_000022.10:g.42523598C>A +PA166153907 rs75114882 PA391 NR1I3 NC_000001.11:161237587 1 1 0 0 0 NC_000001.11:g.161237587=, NC_000001.10:g.161207377=, NC_000001.10:g.161207377A>G, NM_001077479.2:c.20+454T>C, NM_001077482.2:c.-34+454T>C, XM_005245698.1:c.323+454T>C, XM_005245694.1:c.323+454T>C, NM_001077481.2:c.-34+454T>C, XM_005245693.1:c.323+454T>C, NM_001077472.2:c.20+454T>C, XM_005245693.3:c.323+454T>C, 75114882, NC_000001.11:g.161237587A>G, NC_000001.10:g.161207377A>T, NM_001077477.2:c.20+454T>C, NM_001077470.2:c.20+454T>C, NM_001077469.2:c.-34+454T>C, NM_005122.4:c.-34+454T>C, XM_005245695.1:c.323+454T>C, rs75114882, NM_001077474.2:c.-34+454T>C, XM_005245694.3:c.323+454T>C, XM_005245699.1:c.323+454T>C, NM_001077475.2:c.20+454T>C, NM_001077478.2:c.-34+454T>C, NG_029113.1:g.5624T>A, NG_029113.1:g.5624T>C, XM_005245696.1:c.323+454T>C, NM_001077471.2:c.-34+454T>C, NC_000001.11:g.161237587A>T, NG_029113.1:g.5624=, XM_005245697.1:c.-34+454T>C, NM_001077473.2:c.20+454T>C, XM_011510237.1:c.323+454T>C, XM_005245697.3:c.-34+454T>C, NM_001077480.2:c.-34+454T>C, NM_001077476.2:c.20+454T>C +PA166162981 rs7512462 PA37886 SLC26A9 NC_000001.11:205930467 1 1 0 0 0 7512462, rs7512462, NC_000001.11:g.205930467T>A, NC_000001.10:g.205899595T>A, NC_000001.11:g.205930467=, 60935231, NC_000001.10:g.205899595=, NC_000001.10:g.205899595T>C, NC_000001.11:g.205930467T>C +PA166153788 rs7512595 NC_000001.11:27530660 1 0 0 0 0 NC_000001.10:g.27857171A>G, rs7512595, 7512595, NC_000001.10:g.27857171=, NC_000001.11:g.27530660A>G, 60090255, XR_947118.1:n.342A>G, rs60090255, NC_000001.11:g.27530660= +PA166159597 rs7512785 PA164741534 FMO2 NC_000001.11:171210148 1 0 0 0 0 NC_000001.10:g.171179287C>T, NC_000001.11:g.171210148C>T, NC_000001.10:g.171179287=, 7512785, rs7512785, NC_000001.11:g.171210148=, 17568183, 59588362 +PA166170004 rs751402 PA27851 ERCC5 NC_000013.11:102845848 1 0 0 0 0 17840980, NG_007146.1:g.5025A>G, NC_000013.10:g.103498198A>G, NC_000013.11:g.102845848A>G, NG_007146.1:g.5025=, 60698753, NC_000013.10:g.103498198=, rs751402, NC_000013.11:g.102845848=, 751402 +PA166159599 rs7515157 PA164741534 FMO2 NC_000001.11:171210338 1 0 0 0 0 NC_000001.11:g.171210338C>T, NC_000001.10:g.171179477=, NC_000001.11:g.171210338=, 17642138, rs7515157, 7515157, NC_000001.10:g.171179477C>G, NC_000001.10:g.171179477C>T, 59421833, 52803109, NC_000001.11:g.171210338C>G +PA166179698 rs751527244 PA344 SULT1A3 NC_000016.10:30201223 8 4 0 0 0 NC_000016.9:g.30212544=, NP_808220.1:p.Pro101Leu, NC_000016.10:g.30201223=, NC_000016.10:g.30201223C>A, NC_000016.9:g.30212544C>A, NC_000016.9:g.30212544C>T, 751527244, NP_808220.1:p.Pro101His, NP_808220.1:p.Pro101=, rs751527244, NC_000016.10:g.30201223C>T +PA166155332 rs75160992 PA27068 CYB5A NC_000018.10:74291863 1 0 0 0 0 NP_683725.1:p.Ser5=, NC_000018.9:g.71959098A>C, NP_001905.1:p.Ser5Ala, NC_000018.10:g.74291863=, NP_001177736.1:p.Ser5Ala, NP_683725.1:p.Ser5Ala, NC_000018.10:g.74291863A>C, XM_011525835.1:c.13T>G, rs75160992, XP_011524137.1:p.Ser5Ala, NC_000018.9:g.71959098=, NG_023211.1:g.5124T>G, NM_148923.3:c.13T>G, NM_001914.3:c.13T>G, NG_023211.1:g.5124=, 75160992, NM_001190807.2:c.13T>G, XR_245456.1:n.154T>G +PA166176951 rs751655 PA31930 OPCML NC_000011.10:132623600 1 1 0 0 0 NG_012107.1:g.913909G>A, 386610901, NC_000011.9:g.132493495=, NC_000011.9:g.132493495C>T, 59884897, NC_000011.10:g.132623600=, NG_012107.1:g.913909=, NC_000011.10:g.132623600C>T, rs751655, 751655 +PA166153789 rs7518660 PA134935109 IL23R NC_000001.11:67219760 1 1 0 0 0 NC_000001.11:g.67219760G>A, rs59447794, XM_005270517.1:c.190+30G>A, XM_005270512.1:c.346+30G>A, NM_144701.2:c.955+30G>A, 59447794, NG_011498.1:g.58275G>A, NG_011498.1:g.58275=, XM_005270515.1:c.230-16953G>A, XM_011540790.1:c.955+30G>A, XM_005270513.1:c.346+30G>A, XM_005270518.1:c.193+30G>A, XM_011540791.1:c.955+30G>A, NC_000001.10:g.67685443G>A, XM_005270514.1:c.346+30G>A, XM_005270516.2:c.193+30G>A, XM_011540789.1:c.1045+30G>A, NC_000001.10:g.67685443=, XM_005270519.1:c.44-16953G>A, rs7518660, XM_005270516.1:c.193+30G>A, NC_000001.11:g.67219760=, 7518660 +PA166189121 rs75193786 PA32911 PAH NC_000012.12:102894893 2 1 0 0 0 NG_008690.2:g.68518T>G, NC_000012.12:g.102894893A>C, NC_000012.11:g.103288671=, NC_000012.11:g.103288671A>T, NC_000012.12:g.102894893=, NG_008690.2:g.68518=, NG_008690.2:g.68518T>C, NP_000268.1:p.Ile65=, NP_000268.1:p.Ile65Ser, NC_000012.12:g.102894893A>G, NP_000268.1:p.Ile65Thr, 75193786, NC_000012.12:g.102894893A>T, NC_000012.11:g.103288671A>C, NC_000012.11:g.103288671A>G, NP_000268.1:p.Ile65Asn, NG_008690.2:g.68518T>A, rs75193786, 118203928 +PA166195111 rs7521 PA142671604,PA238 KANSL1,MAPT NC_000017.11:46028029 1 0 0 0 0 NC_000017.11:g.46028029A>C, 7521, NC_000017.11:g.46028029A>G, NG_007398.2:g.138567A>G, NC_000017.10:g.44105395A>C, NG_007398.1:g.138619G>T, NC_000017.11:g.46028029=, NG_007398.2:g.138567A>C, NC_000017.10:g.44105395A>G, NG_032784.1:g.202346=, 117974957, NC_000017.11:g.46028029A>T, 114853617, NG_007398.1:g.138619G>C, NG_007398.1:g.138619G>A, 59772627, 3204766, NC_000017.10:g.44105395A>T, NG_007398.2:g.138567A>T, NG_007398.2:g.138567=, NG_032784.1:g.202346T>C, NG_032784.1:g.202346T>A, rs7521, NC_000017.10:g.44105395=, NG_032784.1:g.202346T>G +PA166156019 rs75222709 NC_000021.9:18955109 1 1 0 0 0 NC_000021.9:g.18955109=, NC_000021.8:g.20327427T>G, NC_000021.9:g.18955109T>G, 75222709, NC_000021.8:g.20327427=, rs75222709 +PA166165322 rs75267292 PA145 DPYD NC_000001.11:97335751 1 0 0 0 0 rs75267292, 75267292, NC_000001.10:g.97801307A>G, NC_000001.11:g.97335751=, NC_000001.10:g.97801307=, NG_008807.2:g.590309=, NG_008807.2:g.590309T>C, NC_000001.11:g.97335751A>G +PA166180029 rs752688 PA28608 GCH1 NC_000014.9:54844851 1 0 0 0 0 NG_008647.1:g.62974G>C, NC_000014.9:g.54844851=, NC_000014.9:g.54844851C>T, NC_000014.8:g.55311569=, NC_000014.8:g.55311569C>G, NC_000014.9:g.54844851C>G, rs752688, NG_008647.1:g.62974=, NG_008647.1:g.62974G>A, NC_000014.8:g.55311569C>T, 752688 +PA166153790 rs7527798 PA26856 CR1L NC_000001.11:207698945 1 0 0 0 0 rs7527798, NC_000001.11:g.207698945=, 7527798, rs57821295, 57821295, rs17186918, NC_000001.10:g.207872290=, NM_175710.1:c.1143-244T>C, 17186918, NC_000001.11:g.207698945T>C, NC_000001.10:g.207872290T>C +PA166316641 rs753169154 PA27121 CYP4F2 NC_000019.10:15879367 1 0 0 0 0 753169154, NC_000019.10:g.15879367A>G, rs753169154, NP_001073.3:p.Ile459=, NC_000019.9:g.15990177A>G, NP_001073.3:p.Ile459Thr, NG_007971.2:g.23708T>C, NG_007971.2:g.23708=, NC_000019.10:g.15879367=, NC_000019.9:g.15990177= +PA166153908 rs75328711 PA143485536 MIA3 NC_000001.11:222622785 1 0 0 0 0 75328711, NC_000001.10:g.222796127=, XM_011509513.1:c.267+1493A>C, rs75328711, NC_000001.10:g.222796127A>C, NC_000001.11:g.222622785=, NC_000001.11:g.222622785A>C, XM_006711304.2:c.267+1493A>C, XM_005273121.1:c.267+1493A>C, XM_005273121.3:c.267+1493A>C, NM_198551.3:c.267+1493A>C +PA166156187 rs75386357 PA128 CYP2D6 NC_000022.11:42127473 3 1 1 0 0 XM_011529971.1:c.1003G>A, XP_011528273.1:p.Glu335Lys, NM_001025161.2:c.994G>A, XM_011529970.1:c.994G>A, NW_009646208.1:g.13039C>T, XM_005278354.3:c.847G>A, XP_011528272.1:p.Glu332Lys, NC_000022.11:g.42127473=, NC_000022.10:g.42523475C>G, XR_952745.1:n.2162G>A, NG_008376.3:g.7519G>C, NG_008376.3:g.7519G>A, NT_187682.1:g.49814C>T, rs75386357, XM_011529969.1:c.1003G>A, NP_000097.3:p.Glu383Gln, NM_000106.5:c.1147G>A, XP_011528271.1:p.Glu335Lys, XM_005278353.1:c.1003G>A, NG_008376.4:g.8338=, XP_011528269.1:p.Glu383Lys, NC_000022.11:g.42127473C>G, XM_011529972.1:c.*132G>A, NC_000022.10:g.42523475=, XP_005278411.1:p.Glu283Lys, XM_011548819.1:c.*253G>A, NG_008376.3:g.7519=, NP_001020332.2:p.Glu332Lys, NW_004504305.1:g.49800C>T, 75386357, XM_011529968.1:c.1147G>A, NC_000022.11:g.42127473C>T, XM_011529966.1:c.1147G>A, XP_011546053.1:p.Glu311Lys, XP_011546052.1:p.Glu335Lys, NG_008376.4:g.8338G>A, XM_011529967.1:c.1147G>A, XP_011528270.1:p.Glu383Lys, NP_000097.3:p.Glu383=, NP_000097.3:p.Glu383Lys, XM_011547541.1:c.*253G>A, XM_011547751.1:c.931G>A, NG_008376.4:g.8338G>C, XP_011528268.1:p.Glu383Lys, XP_005278410.1:p.Glu335Lys, XM_005278354.1:c.847G>A, XM_011547750.1:c.1003G>A, NC_000022.10:g.42523475C>T +PA166153791 rs7541245 PA26452,PA28189 CHD1L,FMO5 NC_000001.11:147209857 2 1 0 0 0 XM_005277357.1:c.442-806G>T, rs59422763, XM_005272948.1:c.631-812G>T, NM_001144830.2:c.631-812G>T, XM_005277358.1:c.631-806G>T, NC_000001.11:g.147209857=, NG_052905.1:g.41664C>A, NM_001144830.2:c.631-806G>T, XM_011509350.1:c.631-806G>T, rs17355892, XM_005277354.1:c.631-806G>T, NC_000001.11:g.147209857C>A, XM_005272948.3:c.631-806G>T, XM_005272947.1:c.631-812G>T, 59422763, XM_006711244.2:c.631-806G>T, NM_001144829.2:c.631-812G>T, NC_000001.10:g.146681425=, 17355892, NC_000001.10:g.146681425C>A, XM_011509353.1:c.631-806G>T, XM_006711245.2:c.631-806G>T, NM_001144829.2:c.631-806G>T, 7541245, XM_005277356.1:c.631-806G>T, XM_005272946.1:c.631-812G>T, XM_005272949.1:c.442-812G>T, rs7541245, XM_005272946.3:c.631-806G>T, XM_011509352.1:c.631-806G>T, XM_005272950.1:c.631-812G>T, NG_052905.1:g.41664=, NM_001461.3:c.631-812G>T, XM_011509351.1:c.442-806G>T, XM_005277355.1:c.631-806G>T, NM_001461.3:c.631-806G>T, XM_005272947.3:c.631-806G>T +PA166153792 rs7542281 PA159 F5 NC_000001.11:169567201 1 0 0 0 0 NC_000001.11:g.169567201=, NC_000001.11:g.169567201C>G, NC_000001.10:g.169536439C>G, NC_000001.10:g.169536439=, rs9332558, 9332558, rs7542281, NG_011806.1:g.24331G>A, 7542281, NG_011806.1:g.24331=, NC_000001.10:g.169536439C>T, NG_011806.1:g.24331G>C, NC_000001.11:g.169567201C>T, NM_000130.4:c.373+5020G>A +PA166153793 rs7543016 PA162382539 CMPK1 NC_000001.11:47333967 1 1 0 0 0 NC_000001.11:g.47333967G>T, 7543016, NC_000001.10:g.47799639=, NC_000001.10:g.47799639G>T, NP_057392.1:p.Gly8Trp, rs7543016, NM_016308.2:c.22G>C, NP_057392.1:p.Gly8Arg, rs17856470, NR_046395.1:n.171G>C, NM_001136140.1:c.22G>C, NC_000001.11:g.47333967G>C, NC_000001.10:g.47799639G>A, NC_000001.10:g.47799639G>C, NC_000001.11:g.47333967G>A, NP_057392.1:p.Gly8=, NC_000001.11:g.47333967=, NP_001129612.1:p.Gly8Arg, 17856470, NR_046394.1:n.171G>C +PA166153794 rs7543182 PA288 PTGER3 NC_000001.11:70874290 1 0 0 0 0 XR_946714.1:n.1342-11893G>T, NC_000001.11:g.70874290C>A, NM_198716.1:c.1105-21431G>T, XM_011541809.1:c.1105-8457G>T, XM_005271053.1:c.1078-4971G>T, NG_029509.1:g.178519G>T, XM_005271052.1:c.1105-4971G>T, XM_011541811.1:c.*4-21431G>T, XM_011541810.1:c.1170-21431G>T, NM_198717.1:c.1078-21431G>T, NG_029509.2:g.178519G>T, NR_028293.1:n.1309-4971G>T, NG_029509.1:g.178519=, XM_005271051.1:c.1105-8457G>T, rs59728317, NC_000001.10:g.71339973=, rs7543182, 7543182, NC_000001.10:g.71339973C>A, 59728317, NR_028292.1:n.1336-4971G>T, NR_028294.1:n.1336-8457G>T, NG_029509.2:g.178519=, NM_198714.1:c.*24-21431G>T, NC_000001.11:g.70874290= +PA166154236 rs754487195 PA126 CYP2C9 NC_000010.11:94942305 4 1 1 0 0 NM_000771.3:c.445G>A, NP_000762.2:p.Ala149=, NG_008385.1:g.8648=, NC_000010.11:g.94942305=, NP_000762.2:p.Ala149Thr, XP_005269632.1:p.Ala149Thr, NG_008385.2:g.9148=, NG_008385.2:g.9148G>C, NC_000010.10:g.96702062=, NG_008385.2:g.9148G>A, 754487195, NG_008385.1:g.8648G>A, NC_000010.10:g.96702062G>C, NC_000010.10:g.96702062G>A, NG_008385.1:g.8648G>C, NP_000762.2:p.Ala149Pro, XM_005269575.1:c.445G>A, rs754487195, NC_000010.11:g.94942305G>C, NC_000010.11:g.94942305G>A +PA166316645 rs754533672 PA27121 CYP4F2 NC_000019.10:15886299 1 0 0 0 0 rs754533672, NP_001073.3:p.Gly310Arg, NC_000019.10:g.15886299=, NG_007971.2:g.16776G>A, NC_000019.10:g.15886299C>T, NG_007971.2:g.16776=, NP_001073.3:p.Gly310=, NC_000019.9:g.15997109C>T, 754533672, NC_000019.9:g.15997109= +PA166290045 rs754621576 PA123 CYP2B6 NC_000019.10:41012393 2 0 0 0 0 NC_000019.10:g.41012393=, NG_007929.1:g.26095T>C, NC_000019.9:g.41518298=, NP_000758.1:p.Tyr354=, 754621576, NG_007929.1:g.26095=, NC_000019.9:g.41518298T>C, NC_000019.10:g.41012393T>C, rs754621576, NP_000758.1:p.Tyr354His +PA166178882 rs75467367 PA128 CYP2D6 NC_000022.11:42126623 451 79 79 0 0 NC_000022.10:g.42522625G>C, NG_008376.3:g.8369=, NC_000022.11:g.42126623G>C, 75467367, NC_000022.11:g.42126623=, rs75467367, NP_000097.3:p.Ala482=, NG_008376.3:g.8369C>G, NP_000097.3:p.Ala482Gly, NC_000022.10:g.42522625=, NG_008376.4:g.9188=, NG_008376.4:g.9188C>G +PA166153795 rs7548189 PA145 DPYD NC_000001.11:97402157 3 0 0 0 0 NM_000110.3:c.1906-19696G>T, NG_008807.2:g.523903=, rs17600129, XM_005270562.3:c.1690-19696G>T, 59836182, 7548189, rs7548189, XM_005270561.1:c.1795-19696G>T, XM_006710397.2:c.1906-19696G>T, XM_005270563.1:c.1906-19696G>T, NC_000001.10:g.97867713=, XM_005270562.1:c.1690-19696G>T, 17600129, NC_000001.10:g.97867713C>A, NG_008807.2:g.523903G>T, NC_000001.11:g.97402157=, NC_000001.11:g.97402157C>A, rs59836182 +PA166153796 rs7551789 PA288 PTGER3 NC_000001.11:71049286 1 1 0 0 0 NC_000001.10:g.71514969=, NC_000001.10:g.71514969A>T, NM_198717.1:c.-1709T>A, NM_198716.1:c.-1709T>A, NC_000001.11:g.71049286=, NG_029509.2:g.3523T>A, XM_005271053.1:c.-1709T>A, NM_198718.1:c.-1709T>A, NR_038420.1:n.1259+298A>T, rs7551789, XM_005271052.1:c.-1709T>A, 7551789, NM_198719.1:c.-1709T>A, XM_005271051.1:c.-1709T>A, NG_029509.1:g.3523=, NG_029509.2:g.3523=, NM_198715.2:c.-1709T>A, NR_028292.1:n.-1478T>A, NG_029509.1:g.3523T>A, NC_000001.11:g.71049286A>T, NR_028293.1:n.-1478T>A, NR_028294.1:n.-1478T>A, NM_198714.1:c.-1709T>A, XM_011541810.1:c.-1709T>A, XM_011541811.1:c.-1709T>A, NM_001126044.1:c.-1709T>A, XR_946714.1:n.-1472T>A, XM_011541809.1:c.-1709T>A +PA166157515 rs75519181 PA24641 AHR NC_000007.14:17339284 1 0 0 0 0 NC_000007.13:g.17378908=, 75519181, NC_000007.14:g.17339284=, rs75519181, NC_000007.14:g.17339284A>G, NM_001621.4:c.1459A>G, NP_001612.1:p.Asn487=, NC_000007.13:g.17378908A>G, NP_001612.1:p.Asn487Asp +PA166157516 rs75527207 PA109 CFTR NC_000007.14:117587806 35 2 1 1 5 XM_011515754.1:c.1409G>A, XP_011514056.1:p.Gly470Asp, NG_056131.3:g.761G>A, NG_016465.4:g.127023G>A, NM_000492.3:c.1652G>A, XM_011515753.1:c.1409G>A, NP_000483.3:p.Gly551Asp, NC_000007.13:g.117227860=, NC_000007.14:g.117587806G>A, XM_011515752.1:c.1742G>A, XP_011514053.1:p.Gly581Asp, XP_011514055.1:p.Gly470Asp, 75527207, XM_011515751.1:c.1742G>A, XP_011514054.1:p.Gly581Asp, NC_000007.14:g.117587806=, NG_056131.1:g.130G>A, NG_016465.4:g.127023=, NC_000007.13:g.117227860G>A, rs75527207, NG_056131.1:g.130=, NP_000483.3:p.Gly551=, NG_056131.3:g.761= +PA166153797 rs7552841 PA38617 PCSK9 NC_000001.11:55053079 1 0 0 0 0 NG_009061.1:g.18533C>T, NM_174936.3:c.799+288C>T, rs17397064, rs56541740, NC_000001.11:g.55053079C>T, 58964122, 7552841, 56541740, NC_000001.10:g.55518752=, rs7552841, NG_009061.1:g.18533=, 17397064, NC_000001.11:g.55053079=, NC_000001.10:g.55518752C>T, NR_110451.1:n.458+288C>T, rs58964122 +PA166161164 rs7553527 NC_000001.11:119534961 1 0 0 0 0 NC_000001.11:g.119534961T>C, NC_000001.10:g.120077584T>C, 7553527, NC_000001.11:g.119534961T>G, rs7553527, NC_000001.10:g.120077584T>G, NC_000001.11:g.119534961=, NC_000001.10:g.120077584= +PA166320941 rs755416212 PA145 DPYD NC_000001.11:97691775 3 1 0 0 0 755416212, NC_000001.10:g.98157331=, NG_008807.2:g.234285G>A, rs755416212, NC_000001.10:g.98157331C>T, NP_000101.2:p.Arg235Gln, NG_008807.2:g.234285=, NP_000101.2:p.Arg235=, NC_000001.11:g.97691775=, NC_000001.11:g.97691775C>T +PA166164958 rs75541969 PA109 CFTR NC_000007.14:117614699 2 1 0 1 5 NG_016465.4:g.153916G>C, NG_016465.4:g.153916=, NC_000007.14:g.117614699=, 75541969, NP_000483.3:p.Asp1152=, rs75541969, NC_000007.14:g.117614699G>C, NC_000007.13:g.117254753=, NC_000007.13:g.117254753G>C, NP_000483.3:p.Asp1152His +PA166157220 rs75543815 PA356 TPMT NC_000006.12:18133845 5 2 2 0 0 NG_012137.2:g.26299A>G, XM_011514839.1:c.539A>T, NC_000006.11:g.18134076=, NC_000006.12:g.18133845T>C, rs75543815, NP_000358.1:p.Tyr180Phe, XP_011513142.1:p.Tyr157Phe, NC_000006.11:g.18134076T>C, NC_000006.11:g.18134076T>A, NC_000006.12:g.18133845T>A, NP_000358.1:p.Tyr180=, NG_012137.2:g.26299A>T, NG_012137.2:g.26299=, NM_000367.3:c.539A>T, 75543815, NP_000358.1:p.Tyr180Cys, XP_011513141.1:p.Tyr180Phe, NC_000006.12:g.18133845=, XM_011514840.1:c.470A>T +PA166178090 rs75549581 PA109 CFTR NC_000007.14:117587829 2 1 0 0 0 NC_000007.13:g.117227883G>T, 75549581, NG_056131.1:g.153G>A, NC_000007.14:g.117587829G>A, NC_000007.13:g.117227883=, NG_016465.4:g.127046G>A, NC_000007.14:g.117587829=, NG_016465.4:g.127046G>T, NP_000483.3:p.Ala559Thr, NG_016465.4:g.127046=, NG_056131.3:g.784G>T, NP_000483.3:p.Ala559Ser, NC_000007.13:g.117227883G>A, rs75549581, NP_000483.3:p.Ala559=, NG_056131.3:g.784=, NG_056131.1:g.153=, NC_000007.14:g.117587829G>T, NG_056131.3:g.784G>A, NG_056131.1:g.153G>T +PA166159480 rs755648929 PA25294 BCHE NC_000003.12:165786277 1 0 0 0 0 NC_000003.12:g.165786277=, NP_000046.1:p.Trp518=, rs755648929, 755648929, NP_000046.1:p.Trp518Arg, NC_000003.11:g.165504065=, NG_009031.1:g.56189T>C, NG_009031.1:g.56189=, NC_000003.11:g.165504065A>G, NC_000003.12:g.165786277A>G +PA166319241 rs755692084 PA145 DPYD NC_000001.11:97306296 1 0 0 0 0 NC_000001.11:g.97306296=, rs755692084, rs148856477, NC_000001.10:g.97771852=, NP_000101.2:p.Asp687=, NG_008807.2:g.619764=, 755692084, NP_000101.2:p.Asp687Ala, NC_000001.10:g.97771852T>G, NC_000001.11:g.97306296T>G, NG_008807.2:g.619764A>C +PA166157713 rs755722 PA38725 KCNT1 NC_000009.12:135739808 1 0 0 0 0 NC_000009.11:g.138631654C>T, NM_001272003.1:c.111-10290C>T, rs61260443, XM_011518878.1:c.390-10290C>T, NC_000009.11:g.138631654=, NG_033070.1:g.42624C>T, 61260443, rs755722, NG_033070.1:g.42624=, NC_000009.12:g.135739808C>T, XM_011518877.1:c.390-10290C>T, XM_005263407.1:c.255-10290C>T, NM_020822.2:c.255-10290C>T, XM_011518879.1:c.390-10290C>T, 755722, NC_000009.12:g.135739808=, XM_011518880.1:c.155+3021C>T +PA166283681 rs7557402 PA27809 EPAS1 NC_000002.12:46376532 1 1 0 0 0 NC_000002.11:g.46603671C>G, NC_000002.12:g.46376532C>T, NC_000002.12:g.46376532=, NG_016000.1:g.84131C>G, NG_016000.1:g.84131C>A, NC_000002.11:g.46603671C>T, NC_000002.12:g.46376532C>A, NC_000002.11:g.46603671=, rs7557402, 7557402, NC_000002.12:g.46376532C>G, NC_000002.11:g.46603671C>A, 57616685, NG_016000.1:g.84131C>T, NG_016000.1:g.84131= +PA166155761 rs7563206 PA25094 ATIC NC_000002.12:215325931 4 0 0 0 0 17447642, rs7563206, 7563206, rs60588287, NC_000002.12:g.215325931C>T, NC_000002.12:g.215325931=, NG_013002.1:g.18976C>T, NG_013002.1:g.18976=, rs17447642, NC_000002.11:g.216190654=, NC_000002.11:g.216190654C>T, NM_004044.6:c.380-56C>T, 60588287 +PA166160200 rs75638861 PA26874 CRHR1 NC_000017.11:45829607 1 0 0 0 0 NG_009902.1:g.50346G>A, NC_000017.10:g.43906973G>T, NC_000017.11:g.45829607=, NC_000017.11:g.45829607G>A, 188806449, NP_001138618.1:p.Val161=, NG_009902.1:g.50346=, 75638861, 117404086, NC_000017.10:g.43906973=, NC_000017.10:g.43906973G>A, NC_000017.11:g.45829607G>T, rs75638861, NP_001138618.1:p.Val161Leu, NP_001138618.1:p.Val161Met, NG_009902.1:g.50346G>T +PA166155762 rs7566605 PA134890284 INSIG2 NC_000002.12:118078449 3 0 0 0 0 NC_000002.12:g.118078449C>G, NC_000002.11:g.118836025C>G, 7566605, NC_000002.12:g.118078449=, rs7566605, NC_000002.11:g.118836025C>A, NC_000002.12:g.118078449C>A, NC_000002.11:g.118836025=, rs61203538, NC_000002.11:g.118836025C>T, XM_011512305.1:c.697-917G>C, NC_000002.12:g.118078449C>T, 61203538 +PA166259903 rs756770 PA134920655 ADAMTSL2 NC_000009.12:133533736 1 1 0 0 0 NC_000009.12:g.133533736=, 756770, NC_000009.12:g.133533736C>T, NC_000009.11:g.136398858C>A, rs756770, NG_009931.1:g.6573=, NG_009931.1:g.6573C>A, NC_000009.12:g.133533736C>A, NC_000009.11:g.136398858C>T, NG_009931.1:g.6573C>T, NC_000009.11:g.136398858= +PA166242061 rs756833413 PA130 CYP3A4 NC_000007.14:99762186 13 1 1 0 0 NC_000007.13:g.99359809=, NG_008421.1:g.27000=, NG_008421.1:g.27000G>T, NP_059488.2:p.Ala370=, NC_000007.13:g.99359809C>A, rs756833413, NC_000007.14:g.99762186C>A, NP_059488.2:p.Ala370Ser, 756833413, NC_000007.14:g.99762186= +PA166155763 rs7569963 PA26864,PA145008433 CREB1,METTL21A NC_000002.12:207608460 2 1 0 0 0 XM_011510728.1:c.334+13346C>T, NC_000002.11:g.208473184G>A, NM_001308021.1:c.259+13346C>T, XM_011510730.1:c.259+13346C>T, NC_000002.12:g.207608460=, NC_000002.12:g.207608460G>A, NC_000002.11:g.208473184=, 7569963, rs7569963, XM_011510727.1:c.334+13346C>T, XM_011510729.1:c.388+12181C>T +PA166199041 rs757081 PA31826 NUCB2 NC_000011.10:17330136 1 1 0 0 0 rs757081, NC_000011.10:g.17330136=, 757081, 52826791, 11541243, NC_000011.9:g.17351683=, NC_000011.9:g.17351683C>G, 17413221, NC_000011.10:g.17330136C>G, 1126941, NP_005004.1:p.Gln338=, NP_005004.1:p.Gln338Glu, 3182298 +PA166154300 rs757092 PA223 KCNQ1 NC_000011.10:2477948 2 0 0 0 0 rs757092, NC_000011.10:g.2477948G>T, NG_008935.1:g.37958G>T, NC_000011.10:g.2477948=, NG_008935.1:g.37958=, NC_000011.9:g.2499178G>A, NC_000011.10:g.2477948G>A, 757092, NC_000011.9:g.2499178G>T, NR_040711.2:n.279+16234G>A, NG_008935.1:g.37958G>A, NM_181798.1:c.5+16234G>A, NM_000218.2:c.386+32464G>A, NC_000011.9:g.2499178= +PA166154301 rs757110 PA24395,PA217 ABCC8,KCNJ11 NC_000011.10:17396930 10 1 0 0 0 NG_008867.1:g.84973=, XM_011520332.1:c.4108G>T, rs12805113, 757110, rs757110, XM_011520333.1:c.2605G>T, rs17846753, 12805113, XM_005253088.1:c.4108G>T, 61106969, NG_008867.1:g.84973G>A, NP_000343.2:p.Ala1369Ser, NC_000011.9:g.17418477C>T, rs386611540, 17846753, NP_001274103.1:p.Ala1370Ser, NC_000011.9:g.17418477=, NC_000011.10:g.17396930=, NP_000343.2:p.Ala1369=, NC_000011.10:g.17396930C>A, NG_008867.1:g.84973G>T, NM_000352.4:c.4105G>T, NC_000011.9:g.17418477C>A, XP_011518633.1:p.Ala1369Ser, XP_005253145.1:p.Ala1370Ser, XP_011518634.1:p.Ala1370Ser, NC_000011.10:g.17396930C>T, NP_000343.2:p.Ala1369Thr, rs11550111, NM_001287174.1:c.4108G>T, 386611540, XM_011520331.1:c.4105G>T, XP_011518635.1:p.Ala869Ser, XR_930890.1:n.4171G>T, rs1799855, 1799855, 11550111, rs61106969 +PA166180956 rs757284447 PA34896 RYR1 NC_000019.10:38457587 1 0 0 0 0 NC_000019.10:g.38457587C>T, NP_000531.2:p.Arg628Cys, NC_000019.10:g.38457587=, NG_008866.1:g.28888=, 757284447, NC_000019.9:g.38948227=, NP_000531.2:p.Arg628=, NG_008866.1:g.28888C>T, rs757284447, NC_000019.9:g.38948227C>T +PA166155764 rs7572857 PA134991391 CEP68 NC_000002.12:65069664 2 1 0 0 0 NM_001319101.1:c.220G>A, XR_244927.1:n.423G>A, rs7572857, XR_939674.1:n.423G>A, 7572857, NP_055962.2:p.Gly74Ser, NP_001306030.1:p.Gly74Ser, XM_005264221.1:c.220G>A, XM_005264219.2:c.220G>A, 17849872, rs17849706, NC_000002.11:g.65296798G>A, NM_001319100.1:c.220G>A, 17849706, 52812658, XP_011531006.1:p.Gly74Ser, rs17849872, XM_005264220.1:c.220G>A, NC_000002.12:g.65069664=, XM_005264218.1:c.220G>A, NP_055962.2:p.Gly74=, NC_000002.12:g.65069664G>A, NC_000002.11:g.65296798=, XM_011532704.1:c.220G>A, rs52812658, 60638735, XM_005264218.3:c.220G>A, XM_005264219.1:c.220G>A, XP_005264276.1:p.Gly74Ser, XP_005264275.1:p.Gly74Ser, rs60638735, NP_001306029.1:p.Gly74Ser, NM_015147.2:c.220G>A, NR_134966.1:n.434G>A, XP_005264277.1:p.Gly74Ser, XP_005264278.1:p.Gly74Ser +PA166155765 rs7574296 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233729603 1 1 0 0 0 NC_000002.11:g.234638249A>G, XR_241240.1:n.1022+35738A>G, NM_019076.4:c.856-37431A>G, 61356496, NP_061966.1:p.Ala159=, NM_205862.1:c.60+35738A>G, NC_000002.11:g.234638249=, XR_241238.1:n.923+9916A>G, NC_000002.12:g.233729603=, NM_007120.2:c.867+9916A>G, NG_002601.2:g.144860=, NM_019077.2:c.856-37431A>G, 7574296, rs7574296, rs61356496, NM_001072.3:c.861+35738A>G, NG_002601.2:g.144860A>G, NM_019075.2:c.856-37431A>G, NM_019093.2:c.477A>G, NC_000002.12:g.233729603A>G, NM_019078.1:c.867+15745A>G, NM_021027.2:c.856-37431A>G, XR_241241.1:n.942-37431A>G +PA166185419 rs757454 PA33329 PIP5K1C NC_000019.10:3660621 1 0 0 0 0 NG_012161.1:g.44827=, 757454, NG_012161.2:g.44827T>C, 57959785, NC_000019.9:g.3660619=, NG_012161.2:g.44827T>A, NC_000019.9:g.3660619A>G, rs757454, NC_000019.10:g.3660621A>G, NC_000019.10:g.3660621=, NC_000019.10:g.3660621A>T, NG_012161.1:g.44827T>C, NG_012161.1:g.44827T>A, NG_012161.2:g.44827=, NC_000019.9:g.3660619A>T, 56578125 +PA166155766 rs7574865 PA36185 STAT4 NC_000002.12:191099907 7 1 0 0 0 NG_012852.1:g.56293A=, NM_001243835.1:c.274-23582A>C, XM_011511706.1:c.301-23582A>C, NC_000002.12:g.191099907T=, NM_003151.3:c.274-23582A>C, XM_005246817.3:c.301-23582A>C, NC_000002.11:g.191964633T>A, rs57433953, 57433953, XM_011511706.1:c.301-23582A=, XM_006712719.2:c.274-23582A>C, NC_000002.12:g.191099907=, NC_000002.11:g.191964633T>G, NC_000002.12:g.191099907T>A, XM_011511704.1:c.301-23582A>C, 7574865, rs7574865, XM_006712719.2:c.274-23582A=, NC_000002.11:g.191964633=, NG_012852.1:g.56293A>T, NM_001243835.1:c.274-23582A=, NC_000002.11:g.191964633T=, NC_000002.12:g.191099907T>G, XM_005246817.3:c.301-23582A=, NG_012852.1:g.56293=, XM_011511704.1:c.301-23582A=, XM_011511705.1:c.274-23582A>C, NG_012852.1:g.56293A>C, XM_005246817.1:c.301-23582A=, XM_005246817.1:c.301-23582A>C, 52795984, NM_003151.3:c.274-23582A=, XM_011511705.1:c.274-23582A=, rs52795984 +PA166268444 rs75750968 PA26413 AGAP3 NC_000007.14:151128719 1 1 0 0 0 NC_000007.13:g.150825806T>C, rs75750968, 75750968, NC_000007.14:g.151128719T>C, NG_053086.1:g.47889=, NC_000007.14:g.151128719T>A, NC_000007.13:g.150825806T>A, NC_000007.13:g.150825806=, NG_053086.1:g.47889T>A, NG_053086.1:g.47889T>C, NC_000007.14:g.151128719= +PA166304921 rs757528200 PA27112 CYP2J2 NC_000001.11:59912166_59912171 1 0 0 0 0 NP_000766.2:p.Glu172_Glu173=, NC_000001.11:g.59912166_59912171=, NP_000766.2:p.Glu173del, NG_007931.1:g.19581GAG[1], 757528200, NC_000001.10:g.60377838_60377843=, rs757528200, NC_000001.11:g.59912166CTC[1], NC_000001.10:g.60377838CTC[1], NG_007931.1:g.19581_19586= +PA166179695 rs757573592 PA142670856 SULT1A4 NC_000016.10:29461414 4 4 0 0 0 NP_001017390.1:p.Pro10=, NP_001017390.1:p.Pro10Arg, NC_000016.10:g.29461414C>T, NC_000016.10:g.29461414=, NP_001017390.1:p.Pro10Leu, NC_000016.10:g.29461414C>G, NC_000016.9:g.29472735C>G, rs757573592, NC_000016.9:g.29472735=, 757573592, NC_000016.9:g.29472735C>T +PA166394841 rs75763344 PA109 CFTR NC_000007.14:117540171 0 0 0 0 1 NG_016465.4:g.79388G>T, NG_016465.4:g.79388=, NP_000483.3:p.Gly314Val, 75763344, NC_000007.13:g.117180225=, NC_000007.14:g.117540171G>T, NC_000007.13:g.117180225G>T, NC_000007.14:g.117540171=, NG_016465.4:g.79388G>A, rs75763344, NP_000483.3:p.Gly314=, NP_000483.3:p.Gly314Glu, NG_016465.4:g.79388G>C, NC_000007.13:g.117180225G>C, NC_000007.13:g.117180225G>A, NC_000007.14:g.117540171G>A, NP_000483.3:p.Gly314Ala, NC_000007.14:g.117540171G>C +PA166157265 rs757639 PA142672557,PA31896 BMPER,OCRL NC_000007.14:34111163 1 1 0 0 0 XM_005249634.1:c.1091+25071T>C, 10351416, NC_000007.14:g.34111163T>C, NG_031933.1:g.211253T>C, NM_133468.4:c.1745+25071T>C, rs60257146, NC_000007.13:g.34150775T>A, rs10351416, NC_000007.14:g.34111163T>A, NG_031933.1:g.211253T>A, XR_428072.1:n.1731+25071T>C, NC_000007.14:g.34111163T>G, NC_000007.13:g.34150775T>C, NC_000007.13:g.34150775T>G, NG_031933.1:g.211253T>G, rs757639, XM_005249633.1:c.1415+25071T>C, 60257146, XM_005249632.1:c.1745+25071T>C, NC_000007.13:g.34150775=, 757639, NC_000007.14:g.34111163=, NG_031933.1:g.211253= +PA166176771 rs7578326 NC_000002.12:226155937 1 0 0 0 0 7578326, NC_000002.12:g.226155937A>G, 60178861, NC_000002.12:g.226155937=, NC_000002.11:g.227020653=, rs7578326, NC_000002.11:g.227020653A>G +PA166180514 rs7579275 PA162379620 C2orf80 NC_000002.12:208188356 1 0 0 0 0 NC_000002.12:g.208188356=, NC_000002.11:g.209053080=, NC_000002.12:g.208188356A>C, rs7579275, 7579275, NC_000002.11:g.209053080A>G, 56775468, NC_000002.12:g.208188356A>G, NC_000002.11:g.209053080A>C, 17538889 +PA166176960 rs757978 PA134873245 FARP2 NC_000002.12:241431686 1 1 0 0 0 NC_000002.11:g.242371101C>T, NC_000002.11:g.242371101=, NP_055623.1:p.Thr260Ile, NC_000002.12:g.241431686C>T, NP_055623.1:p.Thr260=, 17452163, 59395776, rs757978, 386611621, NC_000002.11:g.242371101C>A, NP_055623.1:p.Thr260Asn, NC_000002.12:g.241431686=, NC_000002.12:g.241431686C>A, 757978 +PA166288061 rs75805413 PA28110 FGF14 NC_000013.11:102265532 1 0 0 0 0 75805413, NG_008317.2:g.141243=, rs75805413, NC_000013.11:g.102265532T>C, NC_000013.10:g.102917882=, NG_008317.2:g.141243A>G, NC_000013.11:g.102265532=, NC_000013.10:g.102917882T>C +PA166198784 rs7580634 PA29816 IL1RN NC_000002.12:113109277 1 0 0 0 0 7580634, rs7580634, NC_000002.11:g.113866854=, NC_000002.11:g.113866854G>T, NC_000002.12:g.113109277=, NC_000002.12:g.113109277G>T +PA166186139 rs758145522 PA343 SULT1A1 NC_000016.10:28606103 3 3 0 0 0 NC_000016.10:g.28606103A>T, NC_000016.9:g.28617424A>T, NG_028128.1:g.22443T>C, rs758145522, NC_000016.9:g.28617424=, NG_028128.1:g.22443T>A, NP_803880.1:p.Val165Ala, NC_000016.10:g.28606103A>G, NP_803880.1:p.Val165=, NG_028128.1:g.22443=, NP_803880.1:p.Val165Asp, NC_000016.9:g.28617424A>G, NC_000016.10:g.28606103=, 758145522 +PA166176392 rs7582030 PA134932567,PA25305 ACOXL,BCL2L11 NC_000002.12:111120650 1 0 0 0 0 rs7582030, 7582030, NC_000002.11:g.111878227=, NG_029006.1:g.4737G>A, NC_000002.11:g.111878227G>A, NG_029006.1:g.4737=, NC_000002.12:g.111120650G>A, NC_000002.12:g.111120650= +PA166155767 rs7582141 PA142670838 TANC1 NC_000002.12:159042977 1 1 0 0 0 rs7582141, 57545460, 7582141, XM_011512053.1:c.-15-22919G>T, XM_011512058.1:c.-15-22919G>T, rs111168164, XM_011512055.1:c.-15-22919G>T, XM_011512051.1:c.-15-22919G>T, NM_033394.2:c.-15-22919G>T, XM_011512052.1:c.-483G>T, NC_000002.11:g.159899489G>T, NC_000002.12:g.159042977G>T, NC_000002.11:g.159899489=, XM_006712812.2:c.-15-22919G>T, rs57545460, XM_011512048.1:c.4-22919G>T, 111168164, NC_000002.12:g.159042977=, XM_006712810.2:c.-15-22919G>T, NM_001145909.1:c.-15-22919G>T +PA166180145 rs7583431 NC_000002.12:175057654 2 1 0 0 0 NC_000002.12:g.175057654A>C, NC_000002.12:g.175057654=, 61207576, NC_000002.11:g.175922382A>C, NC_000002.11:g.175922382=, rs7583431, 7583431, 17288811 +PA166160232 rs758391 PA28816,PA162394530 GOSR2,LRRC37A2 NC_000017.11:46939875 1 0 0 0 0 rs758391, 57373645, NC_000017.11:g.46939875G>A, NC_000017.10:g.45017241G>T, NC_000017.11:g.46939875G>T, NC_000017.10:g.45017241=, NC_000017.10:g.45017241G>A, NG_031806.2:g.21756=, NC_000017.11:g.46939875=, NG_031806.2:g.21756G>A, 758391, NG_031806.2:g.21756G>T +PA166262008 rs758479488 PA121 CYP2A6 NC_000019.10:40848763 1 1 0 0 0 NP_000753.3:p.Gly115=, NC_000019.10:g.40848763C>T, NC_000019.9:g.41354668=, 758479488, NC_000019.9:g.41354668C>T, rs758479488, NC_000019.10:g.40848763=, NG_008377.1:g.6685=, NP_000753.3:p.Gly115Asp, NG_008377.1:g.6685G>A +PA166170206 rs75848562 PA145 DPYD NC_000001.11:97720144 1 0 0 0 0 75848562, NC_000001.11:g.97720144T>C, NC_000001.10:g.98185700T>C, rs75848562, NG_008807.2:g.205916=, NG_008807.2:g.205916A>G, NC_000001.11:g.97720144=, NC_000001.10:g.98185700= +PA166155768 rs7586110 PA37174,PA37182,PA37183,PA419 UGT1A10,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233681881 2 1 0 0 0 NG_002601.2:g.97138T>G, 7586110, NC_000002.12:g.233681881=, NM_021027.2:c.855+9092T>G, rs7586110, NG_002601.2:g.97138T>A, NC_000002.12:g.233681881T>G, XR_241241.1:n.941+9092T>G, NM_019075.2:c.855+44504T>G, rs60348498, NC_000002.12:g.233681881T>A, NG_002601.2:g.97138=, NC_000002.11:g.234590527=, NC_000002.11:g.234590527T>G, XM_005246081.1:c.-57T>G, NC_000002.11:g.234590527T>A, NM_019077.2:c.-57T>G, NM_019076.4:c.855+63319T>G, 60348498 +PA166319424 rs758649719 PA145 DPYD NC_000001.11:97234935 1 1 0 0 0 NC_000001.11:g.97234935C>T, NG_008807.2:g.691125=, 758649719, NC_000001.11:g.97234935=, NC_000001.10:g.97700491=, NG_008807.2:g.691125G>A, NC_000001.10:g.97700491C>T, rs758649719, NP_000101.2:p.Gly787Arg, NP_000101.2:p.Gly787= +PA166154501 rs758723 PA83 CACNA1C NC_000012.12:2111239 1 0 0 0 0 758723, NM_001129844.1:c.50-3985T>A, XM_005253773.1:c.50-3985T>A, XM_005253765.1:c.140-3985T>A, XM_005253785.1:c.50-3985T>A, NM_001129837.1:c.50-3985T>A, NM_001129835.1:c.50-3985T>A, XM_011521023.1:c.50-3985T>A, XM_005253782.1:c.50-3985T>A, XM_005253787.1:c.50-3985T>A, NM_001129841.1:c.50-3985T>A, XM_005253778.1:c.50-3985T>A, NM_001129832.1:c.50-3985T>A, XM_005253769.1:c.50-3985T>A, NC_000012.11:g.2220405=, XM_005253775.1:c.50-3985T>A, XM_006719017.1:c.140-3985T>A, NM_001129842.1:c.50-3985T>A, NM_001129839.1:c.50-3985T>A, XM_011521021.1:c.50-3985T>A, NM_001129843.1:c.50-3985T>A, NC_000012.12:g.2111239T>C, XM_011521018.1:c.-1069-3985T>A, NG_008801.2:g.145454T>C, NM_001129830.1:c.50-3985T>A, NG_008801.2:g.145454T>A, XM_005253776.1:c.50-3985T>A, XM_011521020.1:c.140-3985T>A, NC_000012.12:g.2111239T>A, NM_001129830.2:c.50-3985T>A, NM_001129838.1:c.50-3985T>A, XM_005253780.1:c.50-3985T>A, NC_000012.12:g.2111239=, NM_000719.6:c.50-3985T>A, NG_008801.2:g.145454=, NM_001167624.2:c.50-3985T>A, NM_001129831.1:c.50-3985T>A, XM_005253786.1:c.50-3985T>A, XM_005253772.1:c.50-3985T>A, XM_005253777.1:c.50-3985T>A, rs758723, XM_005253781.1:c.50-3985T>A, NM_001167625.1:c.50-3985T>A, NC_000012.11:g.2220405T>C, NM_001167623.1:c.50-3985T>A, NC_000012.11:g.2220405T>A, XM_005253774.1:c.50-3985T>A, NM_001129827.1:c.50-3985T>A, NM_001129840.1:c.50-3985T>A, XM_011521022.1:c.50-3985T>A, NM_001129836.1:c.50-3985T>A, NM_199460.3:c.50-3985T>A, XM_005253770.1:c.50-3985T>A, NM_001129846.1:c.50-3985T>A, NM_001129833.1:c.50-3985T>A, XM_005253779.1:c.50-3985T>A, XM_005253783.1:c.50-3985T>A, XM_005253766.1:c.50-3985T>A, XM_005253768.1:c.50-3985T>A, XM_005253771.1:c.50-3985T>A, NM_001129829.1:c.50-3985T>A, XM_005253784.1:c.50-3985T>A, NM_001129834.1:c.50-3985T>A, XM_005253767.1:c.50-3985T>A +PA166394842 rs758818611 PA109 CFTR NC_000007.14:117667104 0 0 0 0 1 NG_056133.3:g.1510=, NP_000483.3:p.Leu1480=, NG_056133.2:g.1510=, NG_016465.4:g.206321=, NC_000007.14:g.117667104=, rs758818611, NC_000007.13:g.117307158=, NG_056133.2:g.1510T>C, NG_056133.3:g.1510T>C, NP_000483.3:p.Leu1480Pro, NC_000007.14:g.117667104T>C, 758818611, NC_000007.13:g.117307158T>C, NG_016465.4:g.206321T>C +PA166155769 rs7588295 PA164718184 CSRNP3 NC_000002.12:165551001 1 1 0 0 0 NC_000002.12:g.165551001A>G, 7588295, rs7588295, NC_000002.12:g.165551001=, NC_000002.11:g.166407511A>G, NM_001172173.1:c.-24+33040A>G, NC_000002.11:g.166407511= +PA166171045 rs7588746 NC_000002.12:200121622 1 1 0 0 0 NC_000002.11:g.200986345=, NC_000002.12:g.200121622=, NC_000002.12:g.200121622A>G, NC_000002.11:g.200986345A>G, 7588746, rs7588746 +PA166155770 rs7589621 PA27809 EPAS1 NC_000002.12:46355243 1 0 0 0 0 NM_001430.4:c.218-908G>A, 7589621, NC_000002.12:g.46355243G>A, NG_016000.1:g.62842=, XM_011532698.1:c.257-908G>A, 61027574, NC_000002.12:g.46355243=, rs7589621, NG_016000.1:g.62842G>A, NC_000002.11:g.46582382G>A, rs61027574, NC_000002.11:g.46582382= +PA166322221 rs7590387 NC_000002.12:237913557 1 0 0 0 0 60766763, NC_000002.12:g.237913557G>A, NC_000002.12:g.237913557G>C, NC_000002.11:g.238822199=, 7590387, NC_000002.12:g.237913557=, rs7590387, NC_000002.11:g.238822199G>A, NC_000002.11:g.238822199G>C +PA166155771 rs7592281 PA37174,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233693995 9 2 2 0 0 NC_000002.11:g.234602641=, NC_000002.12:g.233693995G>T, XR_241240.1:n.1022+130G>T, NG_002601.2:g.109252G>T, NM_019076.4:c.856-73039G>T, rs61538088, NC_000002.11:g.234602641G>T, NM_001072.3:c.861+130G>T, NM_205862.1:c.60+130G>T, NC_000002.12:g.233693995G>A, rs7592281, NC_000002.12:g.233693995=, 7592281, NM_019077.2:c.855+11203G>T, XR_241241.1:n.941+21206G>T, NC_000002.11:g.234602641G>A, NM_021027.2:c.855+21206G>T, 61538088, NG_002601.2:g.109252G>A, NM_019075.2:c.855+56618G>T, NG_002601.2:g.109252= +PA166319923 rs759249769 PA145 DPYD NC_000001.11:97450183 1 0 0 0 0 759249769, NC_000001.11:g.97450183=, NC_000001.11:g.97450183G>A, NC_000001.10:g.97915739G>T, NP_000101.2:p.Thr594Ile, rs759249769, NC_000001.10:g.97915739G>A, NG_008807.2:g.475877C>A, NG_008807.2:g.475877=, NP_000101.2:p.Thr594Asn, NC_000001.11:g.97450183G>T, NP_000101.2:p.Thr594=, NC_000001.10:g.97915739=, NG_008807.2:g.475877C>T +PA166304881 rs759510111 PA27112 CYP2J2 NC_000001.11:59893751 1 0 0 0 0 NC_000001.10:g.60359423=, NG_007931.1:g.38001=, rs759510111, NC_000001.10:g.60359423G>A, NC_000001.11:g.59893751=, NP_000766.2:p.Thr470=, 759510111, NC_000001.11:g.59893751G>A, NP_000766.2:p.Thr470Ile, NG_007931.1:g.38001C>T +PA166162699 rs75961395 PA109 CFTR NC_000007.14:117509123 4 1 0 0 1 NC_000007.13:g.117149177G>A, CFTR: G85E, 75961395, NG_062452.1:g.761G>T, NG_016465.4:g.48340G>A, rs75961395, NP_000483.3:p.Gly85Glu, NC_000007.14:g.117509123G>A, NC_000007.13:g.117149177=, NG_062452.1:g.761=, NP_000483.3:p.Gly85=, NC_000007.13:g.117149177G>T, NG_016465.4:g.48340=, NC_000007.14:g.117509123=, NG_016465.4:g.48340G>T, NC_000007.14:g.117509123G>T, NG_062452.1:g.761G>A, NP_000483.3:p.Gly85Val +PA166210041 rs75967634 PA24571 ADH1B NC_000004.12:99307859 1 1 0 0 0 NC_000004.12:g.99307859C>T, NG_011435.1:g.18557G>A, rs75967634, NC_000004.11:g.100229016=, 75967634, NC_000004.11:g.100229016C>T, NC_000004.12:g.99307859=, NP_000659.2:p.Arg370=, NG_011435.1:g.18557=, NP_000659.2:p.Arg370His +PA166235764 rs7597593 PA162410599 ZNF804A NC_000002.12:184668853 1 1 0 0 0 NC_000002.12:g.184668853T>C, NG_046950.1:g.75488T>C, NC_000002.12:g.184668853T>A, NC_000002.11:g.185533580=, rs7597593, 7597593, 60719747, NG_046950.1:g.75488=, NC_000002.11:g.185533580T>A, NC_000002.11:g.185533580T>C, NC_000002.12:g.184668853=, NG_046950.1:g.75488T>A +PA166155333 rs75982813 PA31534 NEDD4L NC_000018.10:58043776 2 0 0 0 0 NM_015277.5:c.-885A>G, NM_001144967.2:c.-885A>G, XM_006722428.2:c.-885A>G, rs75982813, XM_005266666.1:c.-885A>G, NC_000018.9:g.55711008A>G, NG_029954.1:g.4399=, NG_029954.1:g.4399A>G, NM_001243960.1:c.-885A>G, NC_000018.10:g.58043776A>G, NC_000018.10:g.58043776=, NC_000018.9:g.55711008=, 75982813, XM_006722426.2:c.-885A>G +PA166266941 rs759922342 PA106 CDKN2A NC_000009.12:21970934 1 0 0 0 0 759922342, NG_007485.1:g.28558A>G, rs759922342, NP_000068.1:p.His142Arg, NC_000009.11:g.21970933T>C, NP_000068.1:p.His142=, NC_000009.11:g.21970933=, NC_000009.12:g.21970934=, NC_000009.12:g.21970934T>C, 786201539, NG_007485.1:g.28558= +PA166161452 rs75995567 PA24842 AOX1 NC_000002.12:200604661 1 1 0 0 0 NC_000002.11:g.201469384=, NC_000002.11:g.201469384T>C, 75995567, NC_000002.12:g.200604661=, NC_000002.12:g.200604661T>C, rs75995567 +PA166264621 rs76026520 PA162394843 MACROD2 NC_000020.11:15144218 1 0 0 0 0 NC_000020.10:g.15124864=, NC_000020.11:g.15144218=, NC_000020.10:g.15124864A>G, NG_054905.1:g.1153719=, rs76026520, 76026520, NC_000020.11:g.15144218A>G, NG_054905.1:g.1153719A>G +PA166156293 rs760316 PA28140 FHIT NC_000003.12:60113241 1 1 0 0 0 XM_005264954.1:c.104-99090G>A, NC_000003.12:g.60113241C>T, XM_011533483.1:c.104-99089G>A, NG_007551.2:g.1143219G>A, XM_011533481.1:c.104-99089G>A, NC_000003.11:g.60098968C>T, XM_005264952.1:c.104-99090G>A, XM_011533485.1:c.104-99089G>A, XM_005264951.1:c.125-99090G>A, NG_007551.1:g.1143166G>A, 760316, NM_002012.2:c.104-99090G>A, XM_011533482.1:c.104-99089G>A, XM_005264955.1:c.104-99090G>A, NC_000003.12:g.60113241=, rs760316, NG_007551.2:g.1143219=, NC_000003.11:g.60098968=, NM_001166243.1:c.104-99090G>A, 59412671, rs59412671, XM_011533484.1:c.104-99089G>A, XM_005264953.1:c.104-99090G>A, XM_011533486.1:c.104-99089G>A +PA166156947 rs760370 PA154 SLC29A1 NC_000006.12:44233216 4 3 0 0 0 XM_005248878.1:c.1260-201A>G, NM_001078174.1:c.1260-201A>G, XM_005248882.1:c.1260-201A>G, NC_000006.11:g.44200953=, NM_001078177.1:c.1260-201A>G, NC_000006.11:g.44200953A>G, rs59700015, XM_005248875.1:c.1497-201A>G, NM_001078175.2:c.1260-201A>G, NG_042893.1:g.18712A>G, 760370, XM_005248882.3:c.1260-201A>G, XM_005248881.3:c.1260-201A>G, 59700015, NM_001078176.2:c.1260-201A>G, XM_005248878.3:c.1260-201A>G, NM_001304466.1:c.1335-201A>G, XM_011514341.1:c.1500-201A>G, rs760370, NM_001304463.1:c.1386-201A>G, XM_005248880.3:c.1260-201A>G, NM_001304465.1:c.1338-201A>G, XM_005248879.1:c.1260-201A>G, NG_042893.1:g.18712=, XM_005248877.1:c.1386-201A>G, NC_000006.12:g.44233216=, XM_005248879.3:c.1260-201A>G, XM_005248881.1:c.1260-201A>G, NC_000006.12:g.44233216A>G, XM_005248880.1:c.1260-201A>G, XM_005248876.1:c.1389-201A>G, NM_004955.2:c.1260-201A>G, XM_005248876.3:c.1389-201A>G, NM_001304462.1:c.1497-201A>G +PA166179590 rs7604115 PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233749470 2 1 0 0 0 NC_000002.11:g.234658116C>T, NC_000002.11:g.234658116=, rs7604115, 56963484, NC_000002.12:g.233749470C>T, 7604115, NG_002601.2:g.164727C>T, NC_000002.12:g.233749470=, NG_002601.2:g.164727= +PA166184207 rs760589 PA31942 OPRD1 NC_000001.11:28835953 1 0 0 0 0 NC_000001.11:g.28835953G>A, NC_000001.10:g.29162465G>A, NC_000001.10:g.29162465=, 60663321, 61695397, 3766953, rs760589, NC_000001.11:g.28835953=, 760589 +PA166273681 rs7606353 NC_000002.12:240124959 1 0 0 0 0 rs7606353, 7606353, NC_000002.11:g.241064376A>G, NC_000002.12:g.240124959=, NC_000002.12:g.240124959A>G, NC_000002.11:g.241064376=, 57963657 +PA166185405 rs7606603 PA162409337 XIRP2 NC_000002.12:167134845 2 1 0 0 0 NC_000002.12:g.167134845=, rs7606603, NC_000002.11:g.167991355C>T, NC_000002.12:g.167134845C>A, NC_000002.11:g.167991355C>A, NC_000002.11:g.167991355=, 7606603, 56390978, NC_000002.12:g.167134845C>T +PA166163217 rs760663364 PA145 DPYD NC_000001.11:97515928 1 0 0 0 0 NC_000001.11:g.97515928G>A, NC_000001.11:g.97515928G>C, rs760663364, NC_000001.10:g.97981484G>C, NG_008807.2:g.410132C>T, NP_000101.2:p.Ala513Gly, NC_000001.10:g.97981484=, NG_008807.2:g.410132=, NC_000001.10:g.97981484G>A, NP_000101.2:p.Ala513=, NC_000001.11:g.97515928=, NG_008807.2:g.410132C>G, 760663364, NP_000101.2:p.Ala513Val +PA166156948 rs760761 PA27512 DTNBP1 NC_000006.12:15650901 2 1 0 0 0 NG_009309.1:g.17140=, NG_009309.1:g.17140C>T, NC_000006.12:g.15650901=, NM_001271667.1:c.-83+412C>T, NC_000006.12:g.15650901G>A, NR_036448.1:n.489+412C>T, 760761, NC_000006.11:g.15651132=, XM_011514936.1:c.71+1186C>T, NM_001271669.1:c.56+11913C>T, NM_032122.4:c.161+412C>T, rs58136591, NM_001271668.1:c.110+1186C>T, NM_183040.2:c.161+412C>T, XM_005249447.1:c.122+412C>T, NC_000006.11:g.15651132G>A, XM_005249447.3:c.122+412C>T, 58136591, rs760761 +PA166155772 rs7608731 PA134920089 GALNT14 NC_000002.12:31027108 1 0 0 0 0 NM_001253827.1:c.70-34101A>G, NM_001253826.1:c.315-60806A>G, XM_011533105.1:c.70-34101A>G, NG_051040.1:g.116619A>T, NG_051040.1:g.116619A>G, XM_011533104.1:c.448-34101A>G, rs57143999, 7608731, rs7608731, NC_000002.11:g.31249974=, NC_000002.11:g.31249974T>G, NG_051040.1:g.116619A>C, XM_011533106.1:c.43-34101A>G, rs56452495, NM_024572.3:c.130-34101A>G, NC_000002.12:g.31027108T>A, NC_000002.11:g.31249974T>A, NG_051040.1:g.116619=, NC_000002.11:g.31249974T>C, NC_000002.12:g.31027108T>G, 57143999, 56452495, NC_000002.12:g.31027108T>C, XM_005264559.1:c.25-34101A>G, NR_045602.1:n.903-34101A>G, NC_000002.12:g.31027108= +PA166156189 rs76088846 PA128 CYP2D6 NC_000022.11:42127589 1 1 0 0 0 NP_000097.3:p.Arg344=, NG_008376.3:g.7403=, XM_011529972.1:c.*16G>A, XM_005278354.1:c.731G>A, XP_011546052.1:p.Arg296Gln, XP_011546053.1:p.Arg272Gln, NM_000106.5:c.1031G>A, XP_005278410.1:p.Arg296Gln, NW_004504305.1:g.49916C>T, XM_011529967.1:c.1031G>A, rs76088846, XP_005278411.1:p.Arg244Gln, XM_011529968.1:c.1031G>A, XM_005278354.3:c.731G>A, NP_001020332.2:p.Arg293Gln, XM_005278353.1:c.887G>A, XP_011528272.1:p.Arg293Gln, XM_011547750.1:c.887G>A, XP_011528271.1:p.Arg296Gln, 76088846, NC_000022.11:g.42127589=, XP_011528269.1:p.Arg344Gln, XM_011529970.1:c.878G>A, NC_000022.10:g.42523591C>T, NM_001025161.2:c.878G>A, NG_008376.4:g.8222G>A, NW_009646208.1:g.13155C>T, XP_011528273.1:p.Arg296Gln, XP_011528270.1:p.Arg344Gln, XM_011548819.1:c.*137G>A, NG_008376.3:g.7403G>A, XM_011529966.1:c.1031G>A, NP_000097.3:p.Arg344Gln, NC_000022.10:g.42523591=, XM_011529969.1:c.887G>A, XM_011529971.1:c.887G>A, NC_000022.11:g.42127589C>T, XM_011547751.1:c.815G>A, NT_187682.1:g.49930C>T, XP_011528268.1:p.Arg344Gln, XM_011547541.1:c.*137G>A, XR_952745.1:n.2046G>A, NG_008376.4:g.8222= +PA166257882 rs76103438 NC_000003.12:145575553 1 1 0 0 0 NC_000003.12:g.145575553=, rs76103438, NC_000003.11:g.145293340T>A, NC_000003.12:g.145575553T>C, NC_000003.11:g.145293340=, NC_000003.11:g.145293340T>C, 76103438, NC_000003.12:g.145575553T>A +PA166156949 rs761142 PA28612 GCLC NC_000006.12:53527310 3 1 0 0 0 rs761142, NG_012071.2:g.22820=, NM_001197115.1:c.151-4783T>G, NG_012071.2:g.22820T>A, NC_000006.12:g.53527310A>C, NM_001498.3:c.151-4783T>G, NC_000006.11:g.53392108A>C, NG_012071.1:g.22724T>G, NC_000006.12:g.53527310=, NG_012071.2:g.22820T>G, 761142, NC_000006.12:g.53527310A>T, NC_000006.11:g.53392108A>T, NC_000006.11:g.53392108= +PA166184909 rs76151804 PA109 CFTR NC_000007.14:117611555 0 0 0 0 3 NG_016465.4:g.150772A>G, NG_056128.2:g.4609=, NG_056128.2:g.4609A>G, NG_056128.1:g.4609A>G, NC_000007.14:g.117611555A>G, NC_000007.13:g.117251609A>G, NG_016465.4:g.150772=, NC_000007.14:g.117611555=, NC_000007.13:g.117251609=, NG_056128.1:g.4609=, rs76151804, 76151804 +PA166208281 rs761587034 PA124 CYP2C19 NC_000010.11:94852814 1 0 0 0 0 NP_000760.1:p.Leu458=, NC_000010.11:g.94852814=, NG_008384.3:g.95134T>G, NP_000760.1:p.Leu458Arg, NC_000010.10:g.96612571T>G, rs761587034, NG_008384.3:g.95134=, 761587034, NC_000010.10:g.96612571=, NC_000010.11:g.94852814T>G +PA166177112 rs7616119 PA162410152 ZNF385D NC_000003.12:21756203 1 1 0 0 0 NC_000003.12:g.21756203G>T, NC_000003.12:g.21756203G>C, NC_000003.11:g.21797695G>C, NC_000003.11:g.21797695G>T, NC_000003.11:g.21797695G>A, rs7616119, 7616119, NC_000003.12:g.21756203G>A, NC_000003.12:g.21756203=, NC_000003.11:g.21797695= +PA166262007 rs761666827 PA121 CYP2A6 NC_000019.10:40846916 1 0 0 0 0 NP_000753.3:p.Pro264Thr, NC_000019.10:g.40846916G>T, NC_000019.9:g.41352821G>T, NG_008377.1:g.8532C>A, NG_008377.1:g.8532=, 761666827, rs761666827, NP_000753.3:p.Pro264=, NC_000019.10:g.40846916=, NC_000019.9:g.41352821= +PA166156190 rs76187628 PA128 CYP2D6 NC_000022.11:42129779 9 7 7 0 0 XM_011547756.1:c.-256A>G, NP_000097.3:p.Val104Glu, XM_011547750.1:c.168T>C, NG_008376.4:g.6032=, XP_011528269.1:p.Val104Ala, NC_000022.10:g.42525781A>T, 76187628, XM_011529972.1:c.311T>C, NM_001025161.2:c.311T>C, NC_000022.10:g.42525781A>G, NW_009646208.1:g.15345A>G, NM_000106.5:c.311T>C, NG_008376.3:g.5213T>A, NG_008376.3:g.5213T>C, XM_011548819.1:c.-541T>C, NG_008376.4:g.6032T>C, NG_008376.4:g.6032T>A, XM_005278354.1:c.-541T>C, NW_004504305.1:g.52106A>G, NC_000022.11:g.42129779=, XP_011528272.1:p.Val104Ala, NP_000097.3:p.Val104=, NC_000022.11:g.42129779A>G, XP_011546052.1:p.Cys56=, XM_011547541.1:c.-541T>C, XM_011547751.1:c.-201T>C, XP_011528271.1:p.Cys56=, rs76187628, XP_011528270.1:p.Val104Ala, NP_001020332.2:p.Val104Ala, XM_011529971.1:c.168T>C, NT_187682.1:g.52120A>G, XR_952745.1:n.1468T>C, XM_011529969.1:c.168T>C, XM_011529966.1:c.311T>C, XM_005278353.1:c.311T>C, NC_000022.11:g.42129779A>T, NC_000022.10:g.42525781=, XP_011528273.1:p.Cys56=, XR_430455.2:n.-92A>G, XP_011528268.1:p.Val104Ala, XP_011528274.1:p.Val104Ala, NG_008376.3:g.5213=, NP_000097.3:p.Val104Ala, XM_011529967.1:c.311T>C, XP_005278410.1:p.Val104Ala, XM_005278354.3:c.-541T>C, XM_011529968.1:c.311T>C, XM_011529970.1:c.311T>C +PA166186016 rs761895497 PA126 CYP2C9 NC_000010.11:94949256 4 1 0 0 0 761895497, NC_000010.10:g.96709013T>G, NG_008385.1:g.15599T>G, NP_000762.2:p.Ile264Ser, NC_000010.11:g.94949256T>C, NP_000762.2:p.Ile264Thr, NG_008385.1:g.15599T>C, NP_000762.2:p.Ile264=, rs761895497, NG_008385.1:g.15599=, NG_008385.2:g.16099=, NG_008385.2:g.16099T>G, NC_000010.10:g.96709013=, NC_000010.11:g.94949256=, NG_008385.2:g.16099T>C, NC_000010.11:g.94949256T>G, NC_000010.10:g.96709013T>C +PA166307487 rs761977858 PA390 ABCG2 NC_000004.12:88099380 1 0 0 0 0 NP_004818.2:p.Leu479Ser, NC_000004.12:g.88099380A>G, NP_004818.2:p.Leu479=, NC_000004.11:g.89020532A>G, NC_000004.12:g.88099380=, NC_000004.11:g.89020532=, NG_032067.2:g.136943T>C, NG_032067.2:g.136943=, rs761977858, 761977858 +PA166156419 rs7620165 PA281 PPARG NC_000003.12:12302942 1 0 0 0 0 7620165, NC_000003.11:g.12344441=, NG_011749.1:g.20093A>C, XM_011533841.1:c.-3+13808A>G, NM_138712.3:c.-76-9438A>G, rs7620165, NG_011749.1:g.20093=, 60196309, XM_011533844.1:c.-76-9438A>G, NG_011749.1:g.20093A>G, NM_138711.3:c.-76-9438A>G, NC_000003.12:g.12302942=, NC_000003.12:g.12302942A>C, NC_000003.11:g.12344441A>G, NC_000003.12:g.12302942A>G, NM_005037.5:c.-3+14922A>G, NC_000003.11:g.12344441A>C, rs60196309 +PA166186014 rs762081829 PA126 CYP2C9 NC_000010.11:94941907 3 1 0 0 0 NC_000010.10:g.96701664C>T, NG_008385.2:g.8750C>T, NC_000010.10:g.96701664=, 762081829, NG_008385.1:g.8250C>T, NC_000010.11:g.94941907=, NG_008385.2:g.8750=, NC_000010.11:g.94941907C>T, rs762081829, NP_000762.2:p.Pro73=, NP_000762.2:p.Pro73Leu, NG_008385.1:g.8250= +PA166179694 rs762151655 PA344 SULT1A3 NC_000016.10:30200753 4 4 0 0 0 NP_808220.1:p.Arg9Cys, rs762151655, NC_000016.10:g.30200753C>T, NP_808220.1:p.Arg9=, 762151655, NC_000016.9:g.30212074C>T, NC_000016.10:g.30200753=, NC_000016.9:g.30212074= +PA166179930 rs7621975 NC_000003.12:184040718 1 0 0 0 0 NC_000003.11:g.183758506G>A, NG_012750.1:g.14175=, NC_000003.12:g.184040718G>T, NC_000003.12:g.184040718G>A, NC_000003.11:g.183758506=, NG_012750.1:g.14175G>T, NC_000003.12:g.184040718=, NG_012750.1:g.14175G>A, rs7621975, 57365640, NC_000003.11:g.183758506G>T, 7621975 +PA166154237 rs762239445 PA126 CYP2C9 NC_000010.11:94941982 2 2 2 0 0 NM_000771.3:c.293G>T, XM_005269575.1:c.293G>A, NC_000010.11:g.94941982G>A, NG_008385.2:g.8825=, NG_008385.2:g.8825G>A, NP_000762.2:p.Gly98Asp, NG_008385.1:g.8325=, NC_000010.10:g.96701739=, NG_008385.1:g.8325G>A, NM_000771.3:c.293G>A, NC_000010.10:g.96701739G>T, XP_005269632.1:p.Gly98Asp, rs762239445, XP_005269632.1:p.Gly98Val, 762239445, NG_008385.2:g.8825G>T, NP_000762.2:p.Gly98=, NC_000010.11:g.94941982G>T, NC_000010.10:g.96701739G>A, NP_000762.2:p.Gly98Val, NC_000010.11:g.94941982=, NG_008385.1:g.8325G>T, XM_005269575.1:c.293G>T +PA166157221 rs76228616 PA25938,PA25931 TRAF3IP2,TRAF3IP2-AS1 NC_000006.12:111601300 1 1 0 0 0 NC_000006.12:g.111601300G>C, NM_147686.3:c.-9+4476C>G, NR_034108.1:n.3948G>C, NC_000006.11:g.111922503G>C, NG_032030.1:g.9975=, NR_028338.2:n.506C>G, NM_147200.2:c.-86C>G, NC_000006.11:g.111922503=, NG_032030.2:g.9579C>G, NR_034109.1:n.3657G>C, NG_032030.1:g.9975C>G, rs76228616, NM_001164281.2:c.-9+4476C>G, XM_011535386.1:c.-86C>G, NG_032030.2:g.9579=, 76228616, NC_000006.12:g.111601300= +PA166227801 rs7624046 PA30066 KCNMB2 NC_000003.12:178743983 1 0 0 0 0 NC_000003.11:g.178461771=, NC_000003.12:g.178743983=, NC_000003.12:g.178743983C>T, 7624046, rs7624046, 59002052, NC_000003.11:g.178461771C>T +PA166156420 rs7624766 NC_000003.12:160712081 2 1 0 0 0 rs10288868, 10288868, rs7624766, 7624766, NC_000003.12:g.160712081A>G, rs57928390, 57928390, NC_000003.11:g.160429869=, NC_000003.12:g.160712081=, NC_000003.11:g.160429869A>G +PA166154850 rs762551 PA27093 CYP1A2 NC_000015.10:74749576 83 14 0 0 0 rs17861151, NG_055245.1:g.5246C>G, NG_055245.1:g.5246C>A, 17861151, NG_008431.2:g.32035=, NG_008431.2:g.32035C>A, 762551, NG_008431.2:g.32035C>G, CYP1A2*1F (retired), rs762551, NG_008431.1:g.32035C>A, NC_000015.10:g.74749576=, NC_000015.10:g.74749576C>G, NM_000761.3:c.-9-154C>A, NM_000761.4:c.-9-154C>A, NC_000015.9:g.75041917C>A, rs57172993, CYP1A2*30, NG_061543.1:g.5732C>A, NG_061543.1:g.5732=, 57172993, NG_061543.1:g.5732C>G, NG_055245.1:g.5246=, NC_000015.9:g.75041917=, NC_000015.9:g.75041917C>G, NC_000015.10:g.74749576C>A +PA166227762 rs7625907 PA30066 KCNMB2 NC_000003.12:178672670 1 0 0 0 0 NC_000003.11:g.178390458A>G, 17739889, 60529464, NC_000003.12:g.178672670=, rs7625907, 7625907, NC_000003.11:g.178390458=, NC_000003.12:g.178672670A>G +PA166177113 rs7625956 NC_000003.12:23132388 1 1 0 0 0 rs7625956, NC_000003.12:g.23132388G>A, NC_000003.12:g.23132388=, NC_000003.11:g.23173879=, 7625956, NC_000003.11:g.23173879G>A +PA166156421 rs7626962 PA304 SCN5A NC_000003.12:38579416 4 0 0 0 0 XM_011533992.1:c.3179C>A, 7626962, rs7626962, NP_000326.2:p.Ser1102Tyr, XM_011533991.1:c.3305C>A, NP_001092875.1:p.Ser1103Tyr, XM_006713282.2:c.3308C>A, NM_001099405.1:c.3308C>A, NG_053884.1:g.1155G>A, NC_000003.11:g.38620907=, NC_000003.11:g.38620907G>T, NM_000335.4:c.3305C>A, NM_001099404.1:c.3308C>A, NM_001160160.1:c.3305C>A, NC_000003.12:g.38579416=, NM_001160161.1:c.3228+1515C>A, NP_932173.1:p.Ser1103Tyr, NG_008934.1:g.75257C>A, NP_000326.2:p.Ser1102Phe, NC_000003.12:g.38579416G>T, NP_001153632.1:p.Ser1102Tyr, NG_008934.1:g.75257=, XP_011532294.1:p.Ser1060Tyr, NM_198056.2:c.3308C>A, NG_053884.1:g.1155G>T, XP_011532293.1:p.Ser1102Tyr, NG_053884.1:g.1155=, XP_006713345.1:p.Ser1103Tyr, NC_000003.12:g.38579416G>A, NC_000003.11:g.38620907G>A, NG_008934.1:g.75257C>T, NP_000326.2:p.Ser1102=, NP_001092874.1:p.Ser1103Tyr +PA166156422 rs7627128 PA134933118 ADIPOQ NC_000003.12:186851010 1 0 0 0 0 NM_004797.3:c.-8-2041C>A, XM_011513324.1:c.-124-96C>A, NM_001177800.1:c.-8-2041C>A, rs7627128, 7627128, rs61337351, NG_044949.1:g.11101=, 36219757, NG_044949.1:g.11101C>A, NC_000003.12:g.186851010C>A, NG_021140.1:g.13337C>G, NG_021140.1:g.13337=, NG_044949.1:g.11101C>G, 61337351, NC_000003.11:g.186568799C>G, NG_021140.1:g.13337C>A, NC_000003.12:g.186851010C>G, NC_000003.11:g.186568799=, NC_000003.12:g.186851010=, NC_000003.11:g.186568799C>A, rs36219757 +PA166179942 rs7627615 PA134900226 HTR3E NC_000003.12:184100628 1 0 0 0 0 7627615, NC_000003.11:g.183818416G>A, rs7627615, NC_000003.11:g.183818416G>C, NC_000003.12:g.184100628=, NP_938055.1:p.Ala71Pro, NC_000003.11:g.183818416=, 58776757, NP_938055.1:p.Ala71=, NC_000003.12:g.184100628G>C, NC_000003.12:g.184100628G>A, NG_012452.1:g.5450G>C, NG_012452.1:g.5450G>A, NP_938055.1:p.Ala71Thr, NG_012452.1:g.5450= +PA166271681 rs7627954 PA134893180 TNIK NC_000003.12:171262186 1 0 0 0 0 NC_000003.11:g.170979975T>C, 7627954, rs7627954, NC_000003.11:g.170979975T>G, NC_000003.12:g.171262186T>C, NC_000003.12:g.171262186=, NG_054934.1:g.203223=, 61234958, NC_000003.11:g.170979975=, NG_054934.1:g.203223A>G, 17406970, NG_054934.1:g.203223A>C, NC_000003.12:g.171262186T>G +PA166303041 rs76292544 PA128394766 SUSD3 NC_000009.12:93079459 1 0 0 0 0 76292544, rs76292544, NC_000009.11:g.95841741=, NC_000009.11:g.95841741A>T, NC_000009.12:g.93079459=, NC_000009.12:g.93079459A>T +PA166153587 rs763110 PA56 FASLG NC_000001.11:172658358 2 0 0 0 0 NC_000001.10:g.172627498C>T, NG_007269.1:g.4314C>T, rs763110, NM_001302746.1:c.-844C>T, rs59042607, NC_000001.10:g.172627498=, NG_007269.1:g.4314=, NC_000001.11:g.172658358C>T, 59042607, NM_000639.2:c.-844C=, NM_000639.2:c.-157-687C>T, NC_000001.11:g.172658358=, NC_000001.11:g.172658358C=, 763110, NG_007269.1:g.4314C=, NM_001302746.1:c.-844C=, NC_000001.10:g.172627498C= +PA166308881 rs763317 PA7360 EGFR NC_000007.14:55027504 1 0 0 0 0 NC_000007.14:g.55027504A>G, NG_007726.3:g.13473A>C, NC_000007.13:g.55095197A>T, NC_000007.14:g.55027504A>C, NG_007726.3:g.13473A>G, NC_000007.14:g.55027504=, 763317, NC_000007.13:g.55095197A>G, NG_007726.3:g.13473A>T, NC_000007.14:g.55027504A>T, NC_000007.13:g.55095197A>C, NG_007726.3:g.13473=, rs763317, 60174672, 10369704, NC_000007.13:g.55095197=, 56704882 +PA166162319 rs7634096 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151369849 1 0 0 0 0 NG_021244.1:g.287962C>G, rs7634096, NC_000003.12:g.151369849=, NC_000003.11:g.151087637C>T, NG_021244.1:g.287962=, NG_016019.1:g.19908=, 7634096, NC_000003.12:g.151369849C>T, NG_021244.1:g.287962C>T, NG_016019.1:g.19908G>C, NC_000003.11:g.151087637=, NG_016019.1:g.19908G>A, NC_000003.12:g.151369849C>G, NC_000003.11:g.151087637C>G +PA166154238 rs763625282 PA124 CYP2C19 NC_000010.11:94775465 3 0 0 0 0 NC_000010.11:g.94775465T>C, NM_000769.1:c.407T>A, rs763625282, NM_000769.1:c.407T>C, NG_008384.2:g.17760T>C, NC_000010.11:g.94775465T>A, NP_000760.1:p.Met136Thr, NG_008384.2:g.17760T>A, NC_000010.10:g.96535222T>A, NM_000769.2:c.407T>C, NG_008384.3:g.17785=, NM_000769.2:c.407T>A, NP_000760.1:p.Met136=, NC_000010.10:g.96535222T>C, NG_008384.3:g.17785T>C, NG_008384.3:g.17785T>A, NC_000010.10:g.96535222=, NC_000010.11:g.94775465=, 763625282, NP_000760.1:p.Met136Lys +PA166156950 rs763780 PA29800 IL17F NC_000006.12:52236941 7 0 0 0 0 rs56499381, NP_443104.1:p.His161Arg, rs763780, XR_926873.1:n.-173T>C, NC_000006.12:g.52236941T>C, rs57501176, NC_000006.11:g.52101739=, NP_443104.1:p.His161=, 763780, 56499381, NC_000006.12:g.52236941=, NC_000006.11:g.52101739T>C, XM_011514276.1:c.482A>G, NM_052872.3:c.482A>G, XP_011512578.1:p.His161Arg, 57501176, NG_031869.1:g.12560=, NG_031869.1:g.12560A>G +PA166153910 rs76387818 PA145 DPYD NC_000001.11:97073844 4 1 0 0 0 NC_000001.11:g.97073844G>A, rs76387818, DPYD c.1084G > A, NC_000001.10:g.97539400G>A, NC_000001.11:g.97073844=, NC_000001.10:g.97539400=, DPYD p.Val362Ile, 76387818 +PA166189141 rs76394784 PA32911 PAH NC_000012.12:102894883 2 2 0 0 0 NG_008690.2:g.68528=, NC_000012.11:g.103288661T>A, NP_000268.1:p.Arg68Ser, NG_008690.2:g.68528A>T, rs76394784, NC_000012.11:g.103288661=, NC_000012.12:g.102894883T>A, 76394784, NC_000012.12:g.102894883=, NP_000268.1:p.Arg68= +PA166156267 rs763964554 PA128 CYP2D6 NC_000022.11:42126896 8 3 3 0 0 XM_005278354.3:c.970C>T, XM_011547750.1:c.1126C>T, NW_009646208.1:g.12462G>A, NC_000022.10:g.42522898G>A, XM_011529971.1:c.1126C>T, NG_008376.4:g.8915=, XP_005278410.1:p.Gln376Ter, XP_011528273.1:p.Gln376Ter, XR_952745.1:n.2285C>T, XP_011528270.1:p.Gln424Ter, NC_000022.10:g.42522898=, XM_005278354.1:c.970C>T, XP_011546052.1:p.Gln376Ter, XP_011546053.1:p.Gln352Ter, 763964554, NC_000022.11:g.42126896=, NW_004504305.1:g.49223G>A, XP_011528268.1:p.Gln424Ter, XM_011529966.1:c.1270C>T, XP_005278411.1:p.Gln324Ter, XM_011529967.1:c.1270C>T, NC_000022.11:g.42126896G>A, NP_000097.3:p.Gln424Ter, XM_011529968.1:c.1270C>T, XM_011529970.1:c.1117C>T, NP_000097.3:p.Gln424=, rs763964554, XM_005278353.1:c.1126C>T, XP_011528269.1:p.Gln424Ter, NT_187682.1:g.49237G>A, XM_011529969.1:c.1126C>T, NM_000106.5:c.1270C>T, NG_008376.4:g.8915C>T, NG_008376.3:g.8096C>T, NP_001020332.2:p.Gln373Ter, XP_011528272.1:p.Gln373Ter, NM_001025161.2:c.1117C>T, XM_011547751.1:c.1054C>T, XP_011528271.1:p.Gln376Ter, NG_008376.3:g.8096= +PA166196201 rs7640543 NC_000003.12:30420911 1 0 0 0 0 NC_000003.11:g.30462403G>A, NC_000003.12:g.30420911G>A, NC_000003.11:g.30462403=, 56467443, NC_000003.12:g.30420911=, 7640543, 57383082, rs7640543, NC_000003.12:g.30420911G>T, NC_000003.11:g.30462403G>T +PA166181750 rs764137538 PA124 CYP2C19 NC_000010.11:94781959 3 0 0 0 0 NP_000760.1:p.Arg261=, NC_000010.10:g.96541716=, NG_008384.3:g.24279C>T, NC_000010.11:g.94781959=, 764137538, NG_008384.3:g.24279=, rs764137538, NC_000010.10:g.96541716C>T, NP_000760.1:p.Arg261Trp, NC_000010.11:g.94781959C>T +PA166154239 rs764211126 PA126 CYP2C9 NC_000010.11:94986042 2 1 1 0 0 XP_005269632.1:p.Ile387Val, NC_000010.11:g.94986042=, NC_000010.10:g.96745799=, NG_008385.1:g.52385=, NM_000771.3:c.1159A>G, NP_000762.2:p.Ile387=, 764211126, NG_008385.2:g.52885A>C, NC_000010.10:g.96745799A>C, NG_008385.1:g.52385A>G, NP_000762.2:p.Ile387Val, NG_008385.2:g.52885A>G, NC_000010.10:g.96745799A>G, XM_005269575.1:c.1159A>G, NG_008385.1:g.52385A>C, NP_000762.2:p.Ile387Leu, NC_000010.11:g.94986042A>C, NG_008385.2:g.52885=, rs764211126, NC_000010.11:g.94986042A>G +PA166290050 rs764288403 PA123 CYP2B6 NC_000019.10:41016652 2 0 0 0 0 764288403, NG_007929.1:g.30354=, NC_000019.10:g.41016652=, NP_000758.1:p.Arg434Gln, NG_007929.1:g.30354G>A, rs764288403, NC_000019.10:g.41016652G>A, NP_000758.1:p.Arg434=, NC_000019.9:g.41522557=, NC_000019.9:g.41522557G>A +PA166177820 rs7643038 NC_000003.12:119778198 1 0 0 0 0 NC_000003.11:g.119497045G>T, NG_011856.1:g.2715G>A, NG_011856.1:g.2715G>T, 7643038, rs7643038, NC_000003.11:g.119497045G>A, 59484680, NC_000003.11:g.119497045=, NG_011856.1:g.2715=, NC_000003.12:g.119778198G>A, NC_000003.12:g.119778198=, NC_000003.12:g.119778198G>T +PA166156423 rs7643645 PA378 NR1I2 NC_000003.12:119806650 9 2 0 0 0 NM_003889.3:c.-22-579A>G, NM_022002.2:c.96-579A>G, NM_033013.2:c.-22-579A>G, 7643645, rs7643645, NG_011856.1:g.31167A>G, XM_005247866.1:c.-187-579A>G, NC_000003.11:g.119525497=, rs57945460, NC_000003.11:g.119525497A>G, 57945460, NC_000003.12:g.119806650A>G, NG_011856.1:g.31167=, NC_000003.12:g.119806650= +PA166156193 rs76458556 PA27331 CYB5R3 NC_000022.11:42619789 1 0 0 0 0 NG_012194.1:g.34611=, NC_000022.11:g.42619789=, NM_000398.6:c.890G>A, NC_000022.10:g.43015795C>T, NM_001129819.2:c.821G>A, NM_001171661.1:c.821G>A, NP_001165132.1:p.Arg274His, NC_000022.10:g.43015795=, NP_000389.1:p.Arg297His, NP_001165131.1:p.Arg330His, 76458556, NG_012194.1:g.34611G>A, NM_001171660.1:c.989G>A, NM_007326.4:c.821G>A, NC_000022.11:g.42619789C>T, NP_000389.1:p.Arg297=, NP_015565.1:p.Arg274His, NP_001123291.1:p.Arg274His, rs76458556 +PA166156424 rs7645903 PA281 PPARG NC_000003.12:12422327 1 0 0 0 0 NG_011749.1:g.139478A>T, XM_011533840.1:c.1186+5173A>T, NM_015869.4:c.1270+5173A>T, NM_138711.3:c.1186+5173A>T, rs7645903, NC_000003.12:g.12422327A>T, NM_005037.5:c.1186+5173A>T, 7645903, XM_011533841.1:c.1186+5173A>T, NC_000003.11:g.12463826=, NG_011749.1:g.139478=, NM_138712.3:c.1186+5173A>T, XM_011533843.1:c.820-11571A>T, XM_011533842.1:c.1270+5173A>T, NC_000003.12:g.12422327=, XM_011533844.1:c.736-11571A>T, NC_000003.11:g.12463826A>T +PA166192822 rs764666241 PA145 DPYD NC_000001.11:97573821 0 0 0 1 0 764666241, NC_000001.10:g.98039377=, NP_000101.2:p.Met426Ile, rs764666241, NG_008807.2:g.352239=, NC_000001.10:g.98039377C>A, NG_008807.2:g.352239G>T, NC_000001.11:g.97573821C>A, NP_000101.2:p.Met426=, NC_000001.11:g.97573821=, NG_008807.2:g.352239G>A, NC_000001.10:g.98039377C>T, NC_000001.11:g.97573821C>T +PA166236401 rs764841347 PA25294 BCHE NC_000003.12:165830369 1 1 0 0 0 NC_000003.12:g.165830369A>T, NP_000046.1:p.Leu222Arg, NC_000003.12:g.165830369=, NC_000003.11:g.165548157A>C, NG_009031.1:g.12097T>A, NG_009031.1:g.12097T>C, NP_000046.1:p.Leu222His, 764841347, NP_000046.1:p.Leu222Pro, NC_000003.11:g.165548157=, NC_000003.12:g.165830369A>C, NP_000046.1:p.Leu222=, NC_000003.11:g.165548157A>T, NG_009031.1:g.12097=, rs764841347, NG_009031.1:g.12097T>G, NC_000003.12:g.165830369A>G, NC_000003.11:g.165548157A>G +PA166245801 rs765027508 PA116 ABCC2 NC_000010.11:99804043 1 0 0 0 0 NC_000010.11:g.99804043A>G, NC_000010.11:g.99804043=, NP_000383.2:p.Arg412=, rs765027508, NC_000010.11:g.99804043A>C, NG_011798.2:g.26446=, NG_011798.2:g.26446A>C, NC_000010.10:g.101563800A>C, NC_000010.10:g.101563800A>G, NP_000383.2:p.Arg412Gly, NC_000010.10:g.101563800=, NG_011798.2:g.26446A>G, 765027508 +PA166156425 rs7650895 PA281 PPARG NC_000003.12:12433663 1 0 0 0 0 NM_015869.4:c.1271-235A>C, NC_000003.11:g.12475162A>C, NM_138712.3:c.1187-235A>C, rs7650895, 7650895, XM_011533840.1:c.1187-235A>C, NC_000003.11:g.12475162=, XM_011533843.1:c.820-235A>C, NG_011749.1:g.150814=, NM_005037.5:c.1187-235A>C, 57354505, XM_011533842.1:c.1270+16509A>C, NG_011749.1:g.150814A>C, XM_011533844.1:c.736-235A>C, rs57354505, NC_000003.12:g.12433663A>C, NC_000003.12:g.12433663=, NM_138711.3:c.1187-235A>C, XM_011533841.1:c.1187-235A>C +PA166177114 rs7653345 PA162410152 ZNF385D NC_000003.12:21756949 1 1 0 0 0 NC_000003.11:g.21798441A>C, NC_000003.11:g.21798441A>T, 7653345, NC_000003.11:g.21798441=, NC_000003.11:g.21798441A>G, rs7653345, NC_000003.12:g.21756949=, NC_000003.12:g.21756949A>G, 57176622, NC_000003.12:g.21756949A>T, NC_000003.12:g.21756949A>C +PA166186135 rs765399160 PA343 SULT1A1 NC_000016.10:28608521 3 2 0 0 0 NC_000016.10:g.28608521=, NP_001046.2:p.Met77Ile, NC_000016.9:g.28619842=, NG_028128.1:g.20025=, NC_000016.10:g.28608521C>T, rs765399160, NG_028128.1:g.20025G>A, NC_000016.9:g.28619842C>T, NP_001046.2:p.Met77=, 765399160 +PA166243641 rs765776661 PA128 CYP2D6 NC_000022.11:42126667 9 3 3 0 0 NG_008376.3:g.8326_8335=, NC_000022.11:g.42126658_42126666dup, NC_000022.10:g.42522660_42522668dup, NG_008376.3:g.8327_8335dup, NG_008376.4:g.9146_9154dup, NC_000022.10:g.42522659_42522668=, NP_000097.3:p.Val468_Thr470dup, 765776661, NP_000097.3:p.Val468_Gly471=, NG_008376.4:g.9145_9154=, rs765776661, NC_000022.11:g.42126657_42126666= +PA166165228 rs766023281 PA134963132,PA36245 NUDT15,SUCLA2 NC_000013.11:48037847 1 1 0 0 0 NC_000013.10:g.48611983G>C, NC_000013.10:g.48611983G>A, NC_000013.11:g.48037847G>A, NG_047021.1:g.5281G>A, rs766023281, NC_000013.11:g.48037847G>C, NG_047021.1:g.5281G>C, NP_060753.1:p.Arg34Thr, NC_000013.11:g.48037847=, 766023281, NP_060753.1:p.Arg34Lys, NP_060753.1:p.Arg34=, NG_047021.1:g.5281=, NC_000013.10:g.48611983= +PA166156951 rs766127 PA134870441 MTRF1L NC_000006.12:152992697 1 1 0 0 0 NC_000006.11:g.153313832G>T, 58926425, NM_001114184.2:c.805+160C>T, XR_245540.1:n.854+160C>T, NC_000006.11:g.153313832=, NM_001301871.1:c.379+160C>T, XM_005267036.1:c.379+160C>T, NM_001301047.2:c.697+160C>T, NC_000006.12:g.152992697G>T, NC_000006.12:g.152992697=, NC_000006.11:g.153313832G>A, 766127, NM_001301870.1:c.697+160C>T, NM_019041.6:c.805+160C>T, rs58926425, XR_245540.2:n.846+160C>T, XM_005267035.1:c.697+160C>T, NR_126056.1:n.910+160C>T, NC_000006.12:g.152992697G>A, XM_005267037.1:c.697+160C>T, rs766127 +PA166156620 rs7661530 PA134893552 KCNIP4 NC_000004.12:21349637 2 1 0 0 0 XM_005248191.1:c.62-498970A>G, XM_011513887.1:c.-24+194753A>G, NC_000004.12:g.21349637=, XM_011513885.1:c.88+347713A>G, NM_001035003.1:c.88+347713A>G, XM_011513888.1:c.-24+413284A>G, rs61463525, XR_925453.1:n.375-870T>C, NG_052969.1:g.604115=, NM_147182.3:c.-24+413284A>G, NM_001035004.1:c.-24+194753A>G, 7661530, NC_000004.11:g.21351260T>C, NM_025221.5:c.62-466928A>G, NM_147181.3:c.62-498970A>G, NG_052969.1:g.604115A>G, rs7661530, NC_000004.12:g.21349637T>C, XM_011513886.1:c.62-498970A>G, NC_000004.11:g.21351260=, XM_011513882.1:c.62-466928A>G, 61463525 +PA166156621 rs7662029 PA361 UGT2B7 NC_000004.12:69096194 6 2 0 0 0 XM_011532231.1:c.-26-2346A>G, rs17523009, rs17381776, 58709065, NC_000004.11:g.69961912=, XM_011532230.1:c.-327A>G, NC_000004.12:g.69096194A>T, XM_005265702.1:c.-26-2346A>G, NC_000004.11:g.69961912A>C, XM_005265702.2:c.-26-2346A>G, 7662029, 17523009, NC_000004.11:g.69961912A>G, NM_001074.2:c.-327A>G, 17381776, rs58709065, rs7662029, NC_000004.12:g.69096194A>C, NC_000004.12:g.69096194=, NC_000004.12:g.69096194A>G, NC_000004.11:g.69961912A>T, XM_011532229.1:c.-327A>G +PA166156622 rs7663179 PA27068 CYB5A NC_000004.12:25090735 1 0 0 0 0 NC_000004.11:g.25092357T>C, NC_000004.12:g.25090735=, NC_000004.12:g.25090735T>C, 7663179, rs7663179, NC_000004.11:g.25092357= +PA166165138 rs766432 PA25300 BCL11A NC_000002.12:60492835 1 0 0 0 0 766432, NC_000002.12:g.60492835C>A, rs766432, NC_000002.11:g.60719970=, NC_000002.11:g.60719970C>A, NC_000002.12:g.60492835C>G, NG_011968.1:g.65664=, 61122412, NG_011968.1:g.65664G>C, NG_011968.1:g.65664G>T, NC_000002.12:g.60492835=, NC_000002.11:g.60719970C>G +PA166156623 rs7664413 PA37302,PA37304 VEGFA,VEGFC NC_000004.12:176687553 1 0 0 0 0 NG_034216.1:g.110193G>A, 58304891, NG_034216.1:g.110193=, rs58304891, NC_000004.11:g.177608707=, NC_000004.11:g.177608707C>T, XR_939498.1:n.260+7803C>T, 7664413, NC_000004.12:g.176687553C>T, rs7664413, NC_000004.12:g.176687553=, NM_005429.4:c.812-33G>A, XR_939499.1:n.209+17844C>T +PA166178877 rs766507177 PA128 CYP2D6 NC_000022.11:42126635 455 79 79 0 0 NP_000097.3:p.His478=, rs766507177, NG_008376.4:g.9176A>C, NC_000022.11:g.42126635=, NG_008376.3:g.8357A>G, NC_000022.10:g.42522637=, NG_008376.4:g.9176=, NG_008376.4:g.9176A>G, NC_000022.11:g.42126635T>G, NP_000097.3:p.His478Pro, NC_000022.10:g.42522637T>C, NC_000022.11:g.42126635T>C, NC_000022.10:g.42522637T>G, NG_008376.3:g.8357=, NG_008376.3:g.8357A>C, NP_000097.3:p.His478Arg, 766507177 +PA166156624 rs7667298 PA30086 KDR NC_000004.12:55125564 3 0 0 0 0 rs386485376, NC_000004.11:g.55991731T>C, NM_002253.2:c.-271A>G, NG_012004.1:g.5032A>G, 386485376, rs60563091, NC_000004.11:g.55991731=, NG_012004.1:g.5032=, 60563091, NC_000004.12:g.55125564T>C, 7667298, NC_000004.12:g.55125564=, rs7667298 +PA166156625 rs7668258 PA361 UGT2B7 NC_000004.12:69096360 24 4 0 0 0 XM_011532229.1:c.-161T>C, NM_001074.2:c.-161T>C, NC_000004.11:g.69962078=, rs7668258, 60174701, NC_000004.12:g.69096360T>A, NC_000004.11:g.69962078T>A, NC_000004.12:g.69096360T>C, XM_005265702.2:c.-26-2180T>C, NC_000004.11:g.69962078T>C, 17551675, NC_000004.12:g.69096360T>G, NC_000004.11:g.69962078T>G, XM_011532231.1:c.-26-2180T>C, XM_005265702.1:c.-26-2180T>C, NC_000004.12:g.69096360=, 7668258, XM_011532230.1:c.-161T>C, rs60174701, rs17551675 +PA166156626 rs7668282 PA361 UGT2B7 NC_000004.12:69096396 4 1 0 0 0 XM_005265702.1:c.-26-2144T>C, 7668282, 17551682, NC_000004.11:g.69962114T>C, rs57046100, NM_001074.2:c.-125T>C, NC_000004.12:g.69096396T>C, 57046100, rs17551682, NC_000004.12:g.69096396=, XM_011532229.1:c.-125T>C, XM_005265702.2:c.-26-2144T>C, rs7668282, NC_000004.11:g.69962114=, XM_011532230.1:c.-125T>C, XM_011532231.1:c.-26-2144T>C +PA166207882 rs766903671 PA126 CYP2C9 NC_000010.11:94947897 1 0 0 0 0 NG_008385.1:g.14240G>T, rs766903671, NC_000010.10:g.96707654=, NP_000762.2:p.Lys200Asn, NC_000010.11:g.94947897=, NG_008385.1:g.14240=, NC_000010.10:g.96707654G>T, NG_008385.2:g.14740G>T, NP_000762.2:p.Lys200=, NC_000010.11:g.94947897G>T, NG_008385.2:g.14740=, 766903671 +PA166156627 rs7671745 PA30086 KDR NC_000004.12:55090669 2 0 0 0 0 NM_002253.2:c.3070-591C>T, NG_012004.1:g.39927C>T, NC_000004.11:g.55956836G>C, rs7671745, 7671745, NC_000004.11:g.55956836G>A, NC_000004.11:g.55956836=, NC_000004.12:g.55090669G>C, NC_000004.12:g.55090669G>A, NG_012004.1:g.39927C>G, NC_000004.12:g.55090669=, NG_012004.1:g.39927= +PA166179693 rs767263838 PA142670856 SULT1A4 NC_000016.10:29461407 4 4 0 0 0 NC_000016.10:g.29461407T>C, NP_001017390.1:p.Ser8=, rs767263838, NC_000016.9:g.29472728=, NC_000016.10:g.29461407=, 767263838, NC_000016.9:g.29472728T>C, NP_001017390.1:p.Ser8Pro +PA166154240 rs767284820 PA126 CYP2C9 NC_000010.11:94988955 4 1 1 0 0 rs767284820, NG_008385.2:g.55798=, NC_000010.10:g.96748712T>C, NP_000762.2:p.Leu467=, 767284820, NC_000010.10:g.96748712=, NC_000010.11:g.94988955=, NG_008385.2:g.55798T>C, NP_000762.2:p.Leu467Pro, NM_000771.3:c.1400T>C, NG_008385.1:g.55298=, NC_000010.11:g.94988955T>C, XM_005269575.1:c.1275-511T>C, NG_008385.1:g.55298T>C +PA166154502 rs767455 PA36609 TNFRSF1A NC_000012.12:6341779 6 2 0 0 0 rs767455, NG_007506.1:g.5317A>G, NC_000012.12:g.6341779=, NG_007506.1:g.5317=, NC_000012.11:g.6450945T>C, XM_005253759.1:c.36A>G, 3179755, rs1139417, rs3179755, 1139417, rs17847988, XP_005253816.1:p.Pro12=, 117779755, 17847988, NM_001065.3:c.36A>G, 17404022, rs1800691, 1800691, rs17404022, 11546182, XM_005253758.1:c.-135A>G, NC_000012.12:g.6341779T>C, rs117779755, rs11546182, 767455, NC_000012.11:g.6450945=, rs3203525, 3203525, NP_001056.1:p.Pro12= +PA166186137 rs767487725 PA343 SULT1A1 NC_000016.10:28606850 3 3 0 0 0 NG_028128.1:g.21696T>G, NC_000016.10:g.28606850A>C, rs767487725, 767487725, NC_000016.9:g.28618171=, NP_803880.1:p.Tyr91Asp, NC_000016.10:g.28606850=, NC_000016.9:g.28618171A>C, NG_028128.1:g.21696=, NP_803880.1:p.Tyr91= +PA166156629 rs7675300 PA134893552 KCNIP4 NC_000004.12:21383914 2 1 0 0 0 NC_000004.11:g.21385537C>A, NM_025221.5:c.62-501205G>T, XM_011513888.1:c.-24+379007G>T, NM_001035004.1:c.-24+160476G>T, NM_147181.3:c.62-533247G>T, NG_052969.1:g.569838G>C, NG_052969.1:g.569838G>A, XM_011513886.1:c.62-533247G>T, NC_000004.12:g.21383914C>A, NC_000004.12:g.21383914C>G, NG_052969.1:g.569838G>T, NC_000004.11:g.21385537=, NG_052969.1:g.569838=, rs7675300, 7675300, NM_001035003.1:c.88+313436G>T, NC_000004.12:g.21383914=, NC_000004.11:g.21385537C>T, NC_000004.12:g.21383914C>T, XM_005248191.1:c.62-533247G>T, XM_011513882.1:c.62-501205G>T, XM_011513885.1:c.88+313436G>T, XM_011513887.1:c.-24+160476G>T, NM_147182.3:c.-24+379007G>T, NC_000004.11:g.21385537C>G +PA166155274 rs767531 NC_000018.10:35777904 1 0 0 0 0 NC_000018.9:g.33357868=, 386612419, rs767531, NC_000018.10:g.35777904T>G, NC_000018.9:g.33357868T>G, 767531, 57916855, rs57916855, rs386612419, NC_000018.10:g.35777904= +PA166154241 rs767576260 PA126 CYP2C9 NC_000010.11:94942230 3 2 2 0 0 NC_000010.10:g.96701987C>T, NG_008385.2:g.9073=, NM_000771.3:c.370C>T, NC_000010.11:g.94942230C>T, XM_005269575.1:c.370C>T, 767576260, NC_000010.11:g.94942230=, NG_008385.1:g.8573C>T, XP_005269632.1:p.Arg124Trp, NG_008385.2:g.9073C>T, NC_000010.10:g.96701987=, NP_000762.2:p.Arg124=, NP_000762.2:p.Arg124Trp, NG_008385.1:g.8573=, rs767576260 +PA166157266 rs768172 PA35859 SLC25A13 NC_000007.14:96176391 1 0 0 0 0 NC_000007.13:g.95805703A>T, NC_000007.14:g.96176391=, rs59685268, NC_000007.14:g.96176391A>T, NG_012247.2:g.150757=, NG_012247.1:g.150757=, NC_000007.14:g.96176391A>G, NC_000007.13:g.95805703=, NM_014251.2:c.1178-4867T>A, 118193516, XM_011515728.1:c.326-4867T>A, 59685268, NG_012247.2:g.150757T>A, NC_000007.13:g.95805703A>G, rs768172, NG_012247.1:g.150757T>A, XM_006715831.2:c.1211-4867T>A, NM_001160210.1:c.1181-4867T>A, XM_011515727.1:c.1211-4867T>A, NR_027662.1:n.1253-4867T>A, NG_012247.1:g.150757T>C, rs118193516, NG_012247.2:g.150757T>C, 768172 +PA166261983 rs768416963 PA121 CYP2A6 NC_000019.10:40844679 1 1 0 0 0 NC_000019.10:g.40844679=, NP_000753.3:p.Glu419=, NC_000019.9:g.41350584=, NC_000019.10:g.40844679C>T, NC_000019.9:g.41350584C>T, rs768416963, NG_008377.1:g.10769G>A, 768416963, NG_008377.1:g.10769=, NP_000753.3:p.Glu419Lys +PA166180965 rs768445692 PA85 CACNA1S NC_000001.11:201075561 1 0 0 0 0 NG_009816.1:g.42006G>T, NC_000001.10:g.201044689=, NP_000060.2:p.Gly628=, rs768445692, NC_000001.10:g.201044689C>A, NC_000001.11:g.201075561=, NG_009816.2:g.42006G>A, 768445692, NG_009816.2:g.42006G>T, NC_000001.10:g.201044689C>T, NP_000060.2:p.Gly628Ser, NC_000001.11:g.201075561C>T, NG_009816.2:g.42006=, NP_000060.2:p.Gly628Cys, NC_000001.11:g.201075561C>A, NG_009816.1:g.42006=, NG_009816.1:g.42006G>A +PA166156630 rs7686909 PA35091 HMGB2 NC_000004.12:173336542 1 0 0 0 0 NC_000004.11:g.174257693T>C, NC_000004.12:g.173336542T>C, NC_000004.11:g.174257693=, XR_939464.1:n.77+1721T>C, NC_000004.12:g.173336542=, rs7686909, 7686909 +PA166156631 rs7687621 PA27856 EREG NC_000004.12:74384109 1 0 0 0 0 60629826, NM_001432.2:c.429-618T>C, rs60629826, NC_000004.12:g.74384109=, NC_000004.11:g.75249826T>C, NC_000004.11:g.75249826=, NC_000004.12:g.74384109T>C, 7687621, rs7687621 +PA166394741 rs769016520 PA109 CFTR NC_000007.14:117535369 0 0 0 0 1 NC_000007.14:g.117535369=, NC_000007.13:g.117175423C>T, NG_016465.4:g.74586C>A, NC_000007.13:g.117175423=, NC_000007.14:g.117535369C>A, 769016520, NC_000007.13:g.117175423C>A, NP_000483.3:p.Ala234Asp, NP_000483.3:p.Ala234=, NG_016465.4:g.74586C>T, NP_000483.3:p.Ala234Val, rs769016520, NG_016465.4:g.74586=, NC_000007.14:g.117535369C>T +PA166155580 rs769120898 PA34896 RYR1 NC_000019.10:38561140 1 0 0 0 0 rs769120898, XP_011525507.1:p.Gly4104Ser, NG_008866.1:g.132441=, XM_006723317.1:c.12292G>A, NC_000019.9:g.39051780G>A, NM_001042723.1:c.12295G>A, NP_000531.2:p.Gly4104=, 769120898, XP_011525506.1:p.Gly4103Ser, NM_000540.2:c.12310G>A, NP_000531.2:p.Gly4104Ser, NG_008866.1:g.132441G>A, XP_006723380.1:p.Gly4098Ser, NC_000019.10:g.38561140G>A, XP_006723382.1:p.Gly4093Ser, XM_011527204.1:c.12307G>A, XM_011527205.1:c.12310G>A, NP_001036188.1:p.Gly4099Ser, XM_006723319.1:c.12277G>A, NC_000019.9:g.39051780=, NC_000019.10:g.38561140= +PA166156268 rs769157652 PA128 CYP2D6 NC_000022.11:42126938 9 2 2 0 0 769157652, XM_011547750.1:c.1084G>A, XP_011528269.1:p.Glu410Lys, XM_011529968.1:c.1228G>A, NC_000022.10:g.42522940C>T, XP_011528272.1:p.Glu359Lys, XM_005278354.1:c.928G>A, XP_011528270.1:p.Glu410Lys, NW_009646208.1:g.12504C>T, NC_000022.11:g.42126938=, NG_008376.3:g.8054G>A, NT_187682.1:g.49279C>T, NM_000106.5:c.1228G>A, NC_000022.10:g.42522940=, NP_001020332.2:p.Glu359Lys, XP_005278410.1:p.Glu362Lys, rs769157652, XP_005278411.1:p.Glu310Lys, XP_011528271.1:p.Glu362Lys, XP_011528273.1:p.Glu362Lys, NG_008376.4:g.8873=, XM_005278354.3:c.928G>A, XM_011529971.1:c.1084G>A, XP_011546052.1:p.Glu362Lys, XM_011529970.1:c.1075G>A, XM_011547751.1:c.1012G>A, XP_011528268.1:p.Glu410Lys, XP_011546053.1:p.Glu338Lys, NW_004504305.1:g.49265C>T, NG_008376.4:g.8873G>A, NP_000097.3:p.Glu410=, NM_001025161.2:c.1075G>A, XR_952745.1:n.2243G>A, NP_000097.3:p.Glu410Lys, XM_011529966.1:c.1228G>A, NG_008376.3:g.8054=, NC_000022.11:g.42126938C>T, XM_011529967.1:c.1228G>A, XM_005278353.1:c.1084G>A, XM_011529969.1:c.1084G>A +PA166156058 rs769258 PA128 CYP2D6 NC_000022.11:42130761 27 3 3 0 0 XP_011528270.1:p.Val11Met, NG_008376.4:g.5050=, XM_005278354.3:c.-1523G>A, NG_055460.1:g.46C>T, XP_011528272.1:p.Val11Met, XM_011547750.1:c.37+536G>A, NG_055460.1:g.46=, NT_187682.1:g.53102C>T, NP_000097.3:p.Val11Met, XM_011529972.1:c.31G>A, XR_952745.1:n.1188G>A, NG_008376.4:g.5050G>A, XM_011529971.1:c.37+536G>A, XM_011529970.1:c.31G>A, XM_011547541.1:c.-1523G>A, XM_011529966.1:c.31G>A, NW_004504305.1:g.53088C>T, XP_011528274.1:p.Val11Met, NG_008376.3:g.4231=, NW_009646208.1:g.16327C>T, NM_000106.5:c.31G>A, NC_000022.10:g.42526763C>T, XP_011528268.1:p.Val11Met, XP_011528269.1:p.Val11Met, NM_001025161.2:c.31G>A, XM_005278353.1:c.31G>A, XR_952538.1:n.-1682C>T, XR_952537.1:n.-1682C>T, XM_011548819.1:c.-1523G>A, XR_952536.1:n.-1682C>T, XM_011529968.1:c.31G>A, NC_000022.11:g.42130761=, NC_000022.10:g.42526763=, XR_430455.2:n.328+73C>T, XM_011547751.1:c.-1183G>A, NP_000097.3:p.Val11=, XM_011529967.1:c.31G>A, XM_011547756.1:c.42+538C>T, 769258, XM_011529969.1:c.37+536G>A, rs769258, XM_005278354.1:c.-1523G>A, NP_001020332.2:p.Val11Met, XP_005278410.1:p.Val11Met, XR_952539.1:n.-1393C>T, NC_000022.11:g.42130761C>T, NG_008376.3:g.4231G>A +PA166205781 rs769395 PA28507 GAD1 NC_000002.12:170860293 1 0 0 0 0 NC_000002.12:g.170860293G>C, 57737365, NC_000002.12:g.170860293G>A, NC_000002.11:g.171716803G>T, NC_000002.11:g.171716803G>A, NG_021477.1:g.48604A>C, NC_000002.12:g.170860293=, NG_021477.1:g.48604A>G, NC_000002.12:g.170860293G>T, 386612557, rs769395, NC_000002.11:g.171716803G>C, NC_000002.11:g.171716803=, 769395, NG_021477.1:g.48604A>T +PA166205843 rs769404 PA28507 GAD1 NC_000002.12:170822115 2 1 0 0 0 2266647, 16823181, 17362008, NP_000808.2:p.His37=, 2228597, 1130731, NP_000808.2:p.His37Gln, 769404, NC_000002.12:g.170822115=, 11542313, NC_000002.11:g.171678625T>C, NC_000002.11:g.171678625=, NC_000002.11:g.171678625T>G, NG_021477.1:g.10426=, NC_000002.12:g.170822115T>C, NG_021477.1:g.10426T>C, NC_000002.12:g.170822115T>G, rs769404, NG_021477.1:g.10426T>G +PA166197902 rs769450 PA55 APOE NC_000019.10:44907187 1 0 0 0 0 NG_007084.2:g.6406=, NC_000019.9:g.45410444=, rs769450, 74253333, NC_000019.10:g.44907187G>A, 769450, NC_000019.10:g.44907187=, NC_000019.9:g.45410444G>A, NG_007084.2:g.6406G>A +PA166307462 rs769734146 PA390 ABCG2 NC_000004.12:88101296 1 0 0 0 0 NP_004818.2:p.Thr434=, NG_032067.2:g.135027C>T, rs769734146, NC_000004.11:g.89022448G>A, NG_032067.2:g.135027=, NP_004818.2:p.Thr434Met, 769734146, NC_000004.11:g.89022448=, NC_000004.12:g.88101296=, NC_000004.12:g.88101296G>A +PA166182352 rs76979899 PA390 ABCG2 NC_000004.12:88104089 1 1 0 0 0 NC_000004.12:g.88104089C>T, rs76979899, NC_000004.11:g.89025241C>T, NC_000004.12:g.88104089=, NC_000004.11:g.89025241=, NG_032067.2:g.132234=, 76979899, NG_032067.2:g.132234G>A +PA166156632 rs7699188 PA390 ABCG2 NC_000004.12:88174909 2 1 0 0 0 NM_001257386.1:c.-19-34895C>T, NG_032067.2:g.61414=, NC_000004.12:g.88174909G>A, NC_000004.12:g.88174909=, 57955088, XM_005263355.2:c.-19-34895C>T, 7699188, NC_000004.12:g.88174909G>C, NG_032067.2:g.61414C>G, rs7699188, NC_000004.11:g.89096061G>C, NC_000004.11:g.89096061G>A, rs57955088, XM_005263355.1:c.-19-34895C>T, XM_011532420.1:c.-19-34895C>T, NC_000004.11:g.89096061=, NG_032067.2:g.61414C>T +PA166154242 rs769942899 PA126 CYP2C9 NC_000010.11:94988917 2 1 1 0 0 NC_000010.10:g.96748674=, NG_008385.1:g.55260G>C, NG_008385.1:g.55260=, NC_000010.11:g.94988917=, NC_000010.11:g.94988917G>C, NM_000771.3:c.1362G>C, NG_008385.2:g.55760=, NP_000762.2:p.Gln454His, 769942899, XM_005269575.1:c.1275-549G>C, NP_000762.2:p.Gln454=, NC_000010.10:g.96748674G>C, NG_008385.2:g.55760G>C, rs769942899 +PA166154757 rs76996285 NC_000013.11:25069970 1 0 0 0 0 NC_000013.10:g.25644108G>T, NC_000013.11:g.25069970G>T, NC_000013.11:g.25069970=, 76996285, NC_000013.10:g.25644108=, rs76996285 +PA166155334 rs77005399 PA27068 CYB5A NC_000018.10:74292264 1 0 0 0 0 77005399, NC_000018.9:g.71959499=, NC_000018.9:g.71959499C>T, NM_001914.3:c.-389G>A, XM_011525835.1:c.-389G>A, NC_000018.10:g.74292264C>T, rs77005399, NM_148923.3:c.-389G>A, NG_023211.1:g.4723G>A, NG_023211.1:g.4723=, NC_000018.10:g.74292264=, NM_001190807.2:c.-389G>A, XR_245456.1:n.-248G>A +PA166157694 rs770063251 PA146 DPYS NC_000008.11:104424265 1 0 0 0 0 NP_001376.1:p.Trp406=, NG_008840.1:g.47785G>A, XP_006716581.1:p.Trp353Ter, XP_011515206.1:p.Trp406Ter, XM_005250818.2:c.1217G>A, XM_006716518.2:c.1058G>A, 770063251, XM_005250819.1:c.1217G>A, XP_005250875.1:p.Trp406Ter, XM_005250818.1:c.1217G>A, XP_005250876.1:p.Trp406Ter, NM_001385.2:c.1217G>A, NG_008840.2:g.47785G>A, NP_001376.1:p.Trp406Ter, NC_000008.10:g.105436493=, NC_000008.11:g.104424265=, NC_000008.10:g.105436493C>T, NG_008840.1:g.47785=, XM_011516903.1:c.1217G>A, XP_011515205.1:p.Trp406Ter, NG_008840.2:g.47785=, rs770063251, NC_000008.11:g.104424265C>T, XM_011516904.1:c.1217G>A +PA166157518 rs77010898 PA109 CFTR NC_000007.14:117642566 7 3 0 0 0 77010898, NP_000483.3:p.Trp1282Ter, XP_011514055.1:p.Trp1201Ter, XP_011514053.1:p.Trp1312Ter, NG_016465.4:g.181783G>C, NC_000007.14:g.117642566G>A, NP_000483.3:p.Trp1282=, NP_000483.3:p.Trp1282Cys, NM_000492.3:c.3846G>A, XM_011515753.1:c.3603G>A, XM_011515751.1:c.3936G>A, NG_016465.4:g.181783G>A, NC_000007.14:g.117642566G>C, rs77010898, XM_011515752.1:c.3936G>A, XP_011514054.1:p.Trp1312Ter, XM_011515754.1:c.3603G>A, XP_011514056.1:p.Trp1201Ter, NC_000007.13:g.117282620G>A, NC_000007.14:g.117642566=, NC_000007.13:g.117282620G>C, NG_016465.4:g.181783=, NC_000007.13:g.117282620= +PA166160763 rs7703002 PA165660455 RICTOR NC_000005.10:39045240 2 0 0 0 0 rs7703002, NC_000005.9:g.39045342=, NC_000005.9:g.39045342A>G, 7703002, NC_000005.9:g.39045342A>C, NC_000005.9:g.39045342A>T, NC_000005.10:g.39045240A>G, NC_000005.10:g.39045240=, NC_000005.10:g.39045240A>T, NC_000005.10:g.39045240A>C +PA166156846 rs7706429 PA134920563 FBXL17 NC_000005.10:108251082 1 1 0 0 0 XM_011543576.1:c.1507-26854T>C, NC_000005.10:g.108251082A>G, rs56492716, rs60099801, 57554984, XM_005272048.1:c.1507-26854T>C, XM_005272049.1:c.1375-26854T>C, XM_011543578.1:c.1507-26854T>C, XM_011543575.1:c.1507-26854T>C, NC_000005.10:g.108251082=, 60099801, XM_011543574.1:c.1507-26854T>C, XM_011543577.1:c.1507-26854T>C, 56492716, NM_001163315.2:c.1507-26854T>C, NC_000005.9:g.107586783=, 7706429, rs7706429, NC_000005.9:g.107586783A>G, XM_005272048.3:c.1507-26854T>C, rs57554984 +PA166154243 rs770829708 PA124 CYP2C19 NC_000010.11:94842896 5 0 0 0 0 NC_000010.10:g.96602653G>C, NC_000010.10:g.96602653G>A, NG_008384.3:g.85216G>A, NC_000010.11:g.94842896G>A, NC_000010.11:g.94842896G>C, NP_000760.1:p.Asp341His, NM_000769.1:c.1021G>A, NG_008384.2:g.85191G>A, NM_000769.1:c.1021G>C, rs770829708, NP_000760.1:p.Asp341=, NP_000760.1:p.Asp341Asn, NG_008384.2:g.85191G>C, NM_000769.2:c.1021G>C, NM_000769.2:c.1021G>A, 770829708, NC_000010.11:g.94842896=, NG_008384.3:g.85216=, NC_000010.10:g.96602653=, NG_008384.3:g.85216G>C +PA166162227 rs7709359 PA28183 FLT4 NC_000005.10:180604367 1 0 0 0 0 NC_000005.9:g.180031367A>G, NC_000005.10:g.180604367A>G, NG_011536.1:g.50258=, NC_000005.9:g.180031367=, 58006132, NG_011536.1:g.50258T>C, rs7709359, 7709359, NC_000005.10:g.180604367= +PA166156696 rs77107237 NC_000004.12:68880929 1 1 0 0 0 NC_000004.12:g.68880929A>G, NC_000004.11:g.69746647A>G, rs114612145, NT_167250.2:g.456948A>G, NC_000004.12:g.68880929=, 114612145, rs77107237, NT_167250.1:g.458898A>G, 77107237, NC_000004.11:g.69746647= +PA166307483 rs771215704 PA390 ABCG2 NC_000004.12:88101283 1 0 0 0 0 NG_032067.2:g.135040=, 771215704, NP_004818.2:p.Cys438=, NC_000004.11:g.89022435A>C, NC_000004.12:g.88101283A>C, NC_000004.11:g.89022435=, NC_000004.12:g.88101283=, NG_032067.2:g.135040T>G, rs771215704, NP_004818.2:p.Cys438Trp +PA166156847 rs7712169 NC_000005.10:12383830 1 0 0 0 1 XR_925792.1:n.265-15836C>T, NC_000005.10:g.12383830=, NC_000005.10:g.12383830G>A, NC_000005.9:g.12383942=, 7712169, rs7712169, rs59425486, 59425486, NC_000005.9:g.12383942G>A +PA166186015 rs771237265 PA126 CYP2C9 NC_000010.11:94942203 3 1 0 0 0 NG_008385.1:g.8546A>C, NC_000010.10:g.96701960A>C, NP_000762.2:p.Ser115=, NC_000010.11:g.94942203A>C, NG_008385.1:g.8546=, NG_008385.2:g.9046A>C, NC_000010.11:g.94942203=, NP_000762.2:p.Ser115Arg, 771237265, rs771237265, NC_000010.10:g.96701960=, NG_008385.2:g.9046= +PA166154480 rs77149876 PA36082 SPON1 NC_000011.10:14063584 1 0 0 0 0 NW_003871075.1:g.121668T>C, NM_006108.3:c.480-11761T>C, NC_000011.9:g.14085131T>C, NC_000011.9:g.14085131=, NC_000011.10:g.14063584=, rs77149876, NC_000011.10:g.14063584T>C, 77149876 +PA166207802 rs771905380 PA126 CYP2C9 NC_000010.11:94938846 1 0 0 0 0 rs771905380, NC_000010.11:g.94938846C>T, NC_000010.10:g.96698603=, NG_008385.1:g.5189C>T, 771905380, NC_000010.11:g.94938846=, NC_000010.10:g.96698603C>T, NP_000762.2:p.Thr55Ile, NG_008385.1:g.5189=, NG_008385.2:g.5689=, NG_008385.2:g.5689C>T, NP_000762.2:p.Thr55= +PA166160762 rs7719775 PA165660455 RICTOR NC_000005.10:39048733 1 0 0 0 0 rs7719775, 7719775, NC_000005.10:g.39048733A>G, 56625929, NC_000005.10:g.39048733=, NC_000005.9:g.39048835=, 17364846, NC_000005.9:g.39048835A>G +PA166200021 rs7720513 NC_000005.10:173402299 1 1 0 0 0 NC_000005.10:g.173402299A>G, rs7720513, 7720513, NC_000005.9:g.172829302A>G, NC_000005.10:g.173402299A>C, NC_000005.9:g.172829302A>C, 59894016, NC_000005.9:g.172829302=, NC_000005.10:g.173402299= +PA166153940 rs772226819 PA85 CACNA1S NC_000001.11:201091993 2 7 0 1 0 NC_000001.11:g.201091993=, XM_005245478.2:c.520C>T, 772226819, XP_005245535.1:p.Arg174Trp, NG_009816.1:g.25574=, NC_000001.10:g.201061121G>A, NG_009816.1:g.25574C>T, XM_005245478.1:c.520C>T, NG_009816.2:g.25574=, NP_000060.2:p.Arg174Trp, rs772226819, NC_000001.11:g.201091993G>A, NM_000069.2:c.520C>T, NG_009816.2:g.25574C>T, NC_000001.10:g.201061121=, NP_000060.2:p.Arg174= +PA166153911 rs77235035 PA162399233 PEAR1 NC_000001.11:156908005 2 1 0 0 0 NM_001080471.1:c.856C>A, XP_011507811.1:p.Arg295=, NC_000001.10:g.156877797=, XM_011509509.1:c.883C>A, XP_011507810.1:p.Arg295=, XP_005245199.1:p.Arg222=, NC_000001.10:g.156877797C>A, XM_005245141.1:c.856C>A, XP_011507813.1:p.Arg251=, 77235035, NC_000001.11:g.156908005C>T, XP_005245198.1:p.Arg286=, XM_011509511.1:c.751C>A, XP_006711365.1:p.Arg295=, rs77235035, NC_000001.11:g.156908005=, XM_005245141.2:c.856C>A, XM_011509512.1:c.349C>A, XM_011509508.1:c.883C>A, XP_011507812.1:p.Arg286=, NP_001073940.1:p.Arg286=, XP_011507814.1:p.Arg117=, NC_000001.10:g.156877797C>T, XM_005245142.1:c.664C>A, XM_011509510.1:c.856C>A, NP_001340612.1:p.Arg222Ter, XM_006711302.2:c.883C>A, NC_000001.11:g.156908005C>A, NP_001340612.1:p.Arg222= +PA166156848 rs7725278 PA147 DRD1 NC_000005.10:175333944 1 0 0 0 0 NC_000005.10:g.175333944T>C, rs7725278, NC_000005.9:g.174760947=, 17064876, NC_000005.9:g.174760947T>C, NC_000005.10:g.175333944=, 7725278, rs17064876 +PA166159478 rs772583466 PA25294 BCHE NC_000003.12:165829635 1 0 0 0 0 NC_000003.11:g.165547423=, NC_000003.12:g.165829635C>T, NG_009031.1:g.12831=, NP_000046.1:p.Gly467Ser, NC_000003.12:g.165829635=, NC_000003.11:g.165547423C>T, rs772583466, NP_000046.1:p.Gly467=, 772583466, NG_009031.1:g.12831G>A +PA166181422 rs772832951 PA356 TPMT NC_000006.12:18133870 1 0 0 0 0 NG_012137.2:g.26274T>C, 772832951, NC_000006.12:g.18133870A>G, NG_012137.2:g.26274=, NC_000006.12:g.18133870=, NP_000358.1:p.Ser172=, rs772832951, NC_000006.11:g.18134101A>G, NC_000006.11:g.18134101=, NP_000358.1:p.Ser172Pro +PA166256481 rs7728773 PA29286 HINT1 NC_000005.10:131110726 1 0 0 0 0 rs7728773, NC_000005.9:g.130446419C>T, 7728773, NC_000005.9:g.130446419C>G, NC_000005.10:g.131110726C>A, NC_000005.9:g.130446419C>A, NC_000005.10:g.131110726C>T, NC_000005.10:g.131110726=, 59507667, NC_000005.10:g.131110726C>G, NC_000005.9:g.130446419= +PA166262005 rs772964366 PA121 CYP2A6 NC_000019.10:40845351 1 1 0 0 0 NC_000019.9:g.41351256=, NC_000019.9:g.41351256C>T, NC_000019.10:g.40845351C>T, NP_000753.3:p.Met368=, NC_000019.10:g.40845351=, 772964366, NG_008377.1:g.10097=, NC_000019.9:g.41351256C>G, rs772964366, NC_000019.10:g.40845351C>G, NP_000753.3:p.Met368Ile, NG_008377.1:g.10097G>C, NG_008377.1:g.10097G>A +PA166156194 rs77312092 PA128 CYP2D6 NC_000022.11:42127457 12 9 9 0 0 NP_000097.3:p.Arg388=, NP_000097.3:p.Arg388Pro, NC_000022.11:g.42127457=, XM_005278354.1:c.863G>A, NM_000106.5:c.1163G>A, NW_004504305.1:g.49784C>T, XP_011528273.1:p.Arg340His, NC_000022.10:g.42523459C>G, rs77312092, XP_011528270.1:p.Arg388His, XM_011529967.1:c.1163G>A, XM_011547750.1:c.1019G>A, XM_011529972.1:c.*148G>A, XM_011529968.1:c.1163G>A, XM_005278354.3:c.863G>A, NC_000022.10:g.42523459C>T, XP_011528268.1:p.Arg388His, NG_008376.4:g.8354=, NC_000022.10:g.42523459=, XM_005278353.1:c.1019G>A, NP_000097.3:p.Arg388His, XP_011546053.1:p.Arg316His, NG_008376.3:g.7535=, NT_187682.1:g.49798C>T, NW_009646208.1:g.13023C>T, XM_011529969.1:c.1019G>A, NG_008376.4:g.8354G>C, XM_011529970.1:c.1010G>A, XM_011529971.1:c.1019G>A, XP_011546052.1:p.Arg340His, NG_008376.4:g.8354G>A, XP_011528271.1:p.Arg340His, XM_011548819.1:c.*269G>A, NG_008376.3:g.7535G>A, NG_008376.3:g.7535G>C, XM_011529966.1:c.1163G>A, XP_011528272.1:p.Arg337His, NC_000022.11:g.42127457C>G, NC_000022.11:g.42127457C>T, XM_011547751.1:c.947G>A, XP_011528269.1:p.Arg388His, NP_001020332.2:p.Arg337His, NM_001025161.2:c.1010G>A, XM_011547541.1:c.*269G>A, 77312092, XR_952745.1:n.2178G>A, XP_005278410.1:p.Arg340His, XP_005278411.1:p.Arg288His +PA166179816 rs773123 PA27846 ERBB3 NC_000012.12:56101214 1 1 0 0 0 NC_000012.12:g.56101214A>T, NP_001973.2:p.Ser1119=, NC_000012.11:g.56494998A>T, 773123, NC_000012.12:g.56101214=, NC_000012.11:g.56494998=, NG_011529.1:g.26107A>T, rs773123, 58303863, NG_011529.1:g.26107=, NP_001973.2:p.Ser1119Cys +PA166156849 rs7732173 PA134888452 SV2C NC_000005.10:76181838 1 0 0 0 0 rs58506248, rs57692251, NC_000005.9:g.75477663=, NC_000005.10:g.76181838A>G, NM_001297716.1:c.581-13081A>G, NM_014979.3:c.581-13081A>G, NC_000005.9:g.75477663A>G, XM_011543281.1:c.581-13081A>G, 57692251, NC_000005.10:g.76181838=, rs7732173, XM_011543282.1:c.9-27898A>G, 58506248, 7732173, XM_005248470.1:c.581-13081A>G +PA166207904 rs773704286 PA126 CYP2C9 NC_000010.11:94981357 1 0 0 0 0 NG_008385.1:g.47700A>G, 773704286, NP_000762.2:p.Tyr379Cys, NC_000010.11:g.94981357A>G, NC_000010.11:g.94981357=, NC_000010.10:g.96741114=, rs773704286, NC_000010.10:g.96741114A>G, NG_008385.2:g.48200=, NG_008385.1:g.47700=, NG_008385.2:g.48200A>G, NP_000762.2:p.Tyr379= +PA166222941 rs77370934 NC_000005.10:162177248 1 0 0 0 0 rs77370934, 77370934, 386481214, NC_000005.10:g.162177248=, NC_000005.10:g.162177248G>T, NC_000005.9:g.161604254=, NC_000005.9:g.161604254G>T +PA166268922 rs77375493 PA29896,PA29989 INSL6,JAK2 NC_000009.12:5073770 0 0 0 0 2 NC_000009.11:g.5073770G>T, 386626619, NC_000009.12:g.5073770=, 77375493, NP_004963.1:p.Val617Ile, NG_009904.1:g.93526=, NG_046969.1:g.116941C>T, NP_004963.1:p.Val617Phe, NP_004963.1:p.Val617=, rs77375493, NC_000009.12:g.5073770G>T, NC_000009.12:g.5073770G>A, NG_046969.1:g.116941=, NG_009904.1:g.93526G>T, 121912471, NG_046969.1:g.116941C>A, NG_009904.1:g.93526G>A, NC_000009.11:g.5073770=, NC_000009.11:g.5073770G>A +PA166156269 rs773790593 PA128 CYP2D6 NC_000022.11:42130778 16 9 9 0 0 NT_187682.1:g.53119G>A, NG_055460.1:g.63G>A, NC_000022.10:g.42526780=, XM_005278354.1:c.-1540C>T, XM_011548819.1:c.-1540C>T, XM_011529970.1:c.14C>T, XM_011547750.1:c.37+519C>T, XM_011529966.1:c.14C>T, XM_011529972.1:c.14C>T, NC_000022.11:g.42130778=, XP_011528270.1:p.Ala5Val, NP_000097.3:p.Ala5=, NC_000022.11:g.42130778G>A, 773790593, XP_011528272.1:p.Ala5Val, XM_011529969.1:c.37+519C>T, XM_011529971.1:c.37+519C>T, XM_011547756.1:c.42+555G>A, XM_011529967.1:c.14C>T, NW_004504305.1:g.53105G>A, NM_000106.5:c.14C>T, XM_011547751.1:c.-1200C>T, NC_000022.10:g.42526780G>A, XM_005278353.1:c.14C>T, XP_011528269.1:p.Ala5Val, XP_005278410.1:p.Ala5Val, NM_001025161.2:c.14C>T, XM_005278354.3:c.-1540C>T, XM_011547541.1:c.-1540C>T, XP_011528274.1:p.Ala5Val, NP_001020332.2:p.Ala5Val, NG_008376.4:g.5033=, NW_009646208.1:g.16344G>A, NG_055460.1:g.63=, rs773790593, NG_008376.3:g.4214C>T, XR_952539.1:n.-1376G>A, XM_011529968.1:c.14C>T, NP_000097.3:p.Ala5Val, XR_952537.1:n.-1665G>A, NG_008376.4:g.5033C>T, XR_952536.1:n.-1665G>A, XR_952745.1:n.1171C>T, NG_008376.3:g.4214=, XR_430455.2:n.328+90G>A, XP_011528268.1:p.Ala5Val, XR_952538.1:n.-1665G>A +PA166157121 rs7740004 PA134871908 TBC1D32 NC_000006.12:120535057 1 1 0 0 0 rs7740004, rs17243478, NC_000006.11:g.120856203T>A, NC_000006.12:g.120535057=, NC_000006.12:g.120535057T>A, NC_000006.11:g.120856203=, 7740004, 17243478 +PA166249641 rs774072493 PA25294 BCHE NC_000003.12:165830599 1 1 0 0 0 NP_000046.1:p.Phe146fs, rs774072493, NC_000003.12:g.165830598_165830599insC, NP_000046.1:p.Phe146_Gln147=, 774072493, NG_009031.1:g.11867_11868=, NC_000003.12:g.165830598_165830599=, NC_000003.11:g.165548386_165548387=, NC_000003.11:g.165548386_165548387insC, NG_009031.1:g.11867_11868insG +PA166178052 rs77409459 PA109 CFTR NC_000007.14:117540243 1 1 0 0 1 NP_000483.3:p.Thr338=, NG_016465.4:g.79460=, CFTR T338I, NC_000007.13:g.117180297=, rs77409459, 77409459, NP_000483.3:p.Thr338Ile, NC_000007.13:g.117180297C>T, NC_000007.14:g.117540243=, NC_000007.14:g.117540243C>T, NG_016465.4:g.79460C>T +PA166242021 rs774109750 PA130 CYP3A4 NC_000007.14:99760956 14 1 1 0 0 rs774109750, NC_000007.14:g.99760956=, NC_000007.13:g.99358579T>C, NG_008421.1:g.28230=, 774109750, NG_008421.1:g.28230A>G, NC_000007.14:g.99760956T>C, NP_059488.2:p.Ile427=, NP_059488.2:p.Ile427Val, NC_000007.13:g.99358579= +PA166157714 rs774359 PA134908144 C9orf72 NC_000009.12:27561051 2 1 0 0 0 NG_031977.1:g.17816A>G, 59596579, rs774359, rs59596579, NC_000009.11:g.27561049T>C, NM_018325.4:c.665+534A>G, 386612890, NM_001256054.1:c.665+534A>G, NM_001256054.2:c.665+534A>G, NC_000009.11:g.27561049=, rs386612890, NC_000009.12:g.27561051=, NC_000009.12:g.27561051T>C, 774359, NM_145005.6:c.*530A>G, NG_031977.1:g.17816= +PA166154834 rs77441273 PA35854 SLC24A4 NC_000014.9:92493513 1 0 0 0 0 NC_000014.8:g.92959857=, NC_000014.9:g.92493513G>A, NC_000014.8:g.92959857G>A, XM_011536436.1:c.1895G>A, NM_153647.3:c.1697G>A, XP_011534738.1:p.Arg632Gln, NP_705934.1:p.Arg521Gln, XM_011536439.1:c.*55G>A, NP_705932.2:p.Arg585=, NP_705933.2:p.Arg566Gln, 77441273, XM_011536437.1:c.1838G>A, XP_011534744.1:p.Arg279Gln, NG_023408.1:g.175933G>A, XM_011536438.1:c.*55G>A, NG_023408.1:g.175933=, rs77441273, XM_011536442.1:c.836G>A, NC_000014.9:g.92493513=, XP_005267398.1:p.Arg585Gln, XM_011536440.1:c.1004G>A, NM_153646.3:c.1754G>A, NM_153648.3:c.1562G>A, XP_011534739.1:p.Arg613Gln, NP_705932.2:p.Arg585Gln, XM_005267341.1:c.1754G>A, XM_011536441.1:c.836G>A, XP_011534742.1:p.Arg335Gln, XP_011534743.1:p.Arg279Gln +PA166154244 rs774550549 PA126 CYP2C9 NC_000010.11:94947785 2 2 2 0 0 NP_000762.2:p.Pro163=, NG_008385.2:g.14628=, NC_000010.10:g.96707542=, NC_000010.11:g.94947785=, NM_000771.3:c.488C>T, XM_005269575.1:c.488C>T, NP_000762.2:p.Pro163Leu, NG_008385.2:g.14628C>T, 774550549, NG_008385.1:g.14128C>T, NC_000010.11:g.94947785C>T, NC_000010.10:g.96707542C>T, rs774550549, XP_005269632.1:p.Pro163Leu, NG_008385.1:g.14128= +PA166320023 rs774579695 PA145 DPYD NC_000001.11:97193091 1 0 0 0 0 NC_000001.10:g.97658647=, NG_008807.2:g.732969G>A, 774579695, NG_008807.2:g.732969=, NP_000101.2:p.Arg867=, NC_000001.11:g.97193091C>T, NC_000001.10:g.97658647C>T, NC_000001.11:g.97193091=, NP_000101.2:p.Arg867His, rs774579695 +PA166183291 rs774607211 PA126 CYP2C9 NC_000010.11:94942216 2 1 1 0 0 NC_000010.10:g.96701973A>C, NP_000762.2:p.Lys119Thr, NG_008385.1:g.8559=, NC_000010.11:g.94942216=, NC_000010.11:g.94942216A>C, NG_008385.2:g.9059A>G, NG_008385.2:g.9059=, NP_000762.2:p.Lys119=, NC_000010.10:g.96701973=, NG_008385.1:g.8559A>C, 774607211, NC_000010.11:g.94942216A>G, NG_008385.2:g.9059A>C, rs774607211, NP_000762.2:p.Lys119Arg, NC_000010.10:g.96701973A>G, NG_008385.1:g.8559A>G +PA166156270 rs774671100 PA128 CYP2D6 NC_000022.11:42130655_42130656 2 1 1 0 0 NC_000022.10:g.42526656_42526657insA, NC_000022.11:g.42130654_42130655insA, NG_008376.3:g.4337_4338insT, NG_008376.3:g.4337=, XP_011528272.1:p.Leu47Alafs, XR_952538.1:n.-1789_-1788insA, XM_011529967.1:c.137_138insT, XP_011528268.1:p.Leu47Alafs, NP_000097.3:p.Leu47Alafs, XM_011547751.1:c.-1077_-1076insT, XM_005278354.1:c.-1417_-1416insT, XR_430455.2:n.294_295insA, XP_011528270.1:p.Leu47Alafs, XR_952745.1:n.1294_1295insT, XM_011547756.1:c.42+431_42+432insA, NW_009646208.1:g.16220_16221insA, XM_011529970.1:c.137_138insT, XR_952537.1:n.-1789_-1788insA, 774671100, NG_008376.4:g.5156=, XM_005278353.1:c.137_138insT, NP_000097.3:p.Leu46=, NP_001020332.2:p.Leu47Alafs, NP_000097.3:p.Leu47fs, NM_001025161.2:c.137_138insT, XM_005278354.3:c.-1417_-1416insT, NG_008376.3:g.4337dup, NC_000022.10:g.42526657=, XP_005278410.1:p.Leu47Alafs, XM_011529971.1:c.37+642_37+643insT, NC_000022.11:g.42130655=, NW_004504305.1:g.52981_52982insA, XR_952536.1:n.-1789_-1788insA, XP_011528269.1:p.Leu47Alafs, NM_000106.5:c.137_138insT, XM_011529968.1:c.137_138insT, XP_011528274.1:p.Leu47Alafs, NC_000022.10:g.42526657dup, rs774671100, NG_008376.4:g.5156dup, XM_011529966.1:c.137_138insT, XR_952539.1:n.-1500_-1499insA, XM_011547750.1:c.37+642_37+643insT, NT_187682.1:g.52995_52996insA, XM_011529969.1:c.37+642_37+643insT, XM_011529972.1:c.137_138insT, XM_011547541.1:c.-1417_-1416insT, XM_011548819.1:c.-1417_-1416insT, NC_000022.11:g.42130655dup +PA166157122 rs7746993 NC_000006.12:52849339 1 0 0 0 0 NG_029175.2:g.21120G>T, NC_000006.11:g.52714137C>A, NG_029175.3:g.21120G>T, 7746993, NG_029175.2:g.21120=, rs7746993, 59957668, NC_000006.12:g.52849339C>A, NC_000006.11:g.52714137=, rs59957668, NC_000006.12:g.52849339=, NG_029175.3:g.21120= +PA166165340 rs77475703 NC_000003.12:111391326 1 0 0 0 0 NC_000003.12:g.111391326=, NC_000003.11:g.111110173=, NC_000003.12:g.111391326C>G, 77475703, NC_000003.11:g.111110173C>G, rs77475703 +PA166177791 rs7748401 PA31945 OPRM1 NC_000006.12:154059015 1 1 0 0 0 NC_000006.11:g.154380150=, NG_021208.2:g.53515=, rs7748401, 58263585, NC_000006.11:g.154380150T>G, 7748401, NC_000006.12:g.154059015=, NC_000006.12:g.154059015T>G, NG_021208.2:g.53515T>G +PA166265581 rs77491650 PA27203 DDX12P NC_000012.12:9426934 1 0 0 0 0 NC_000012.11:g.9579530G>C, NC_000012.11:g.9579530G>T, NC_000012.12:g.9426934G>C, NC_000012.12:g.9426934G>T, NC_000012.12:g.9426934=, NC_000012.11:g.9579530=, 77491650, rs77491650, 200547041 +PA166156195 rs77499608 PA27331 CYB5R3 NC_000022.11:42618910 1 0 0 0 0 NM_007326.4:c.*863T>C, NM_000398.6:c.*863T>C, NG_012194.1:g.35490=, NG_012194.1:g.35490T>C, rs77499608, NC_000022.10:g.43014916A>G, NC_000022.10:g.43014916=, NM_001171660.1:c.*863T>C, NM_001129819.2:c.*863T>C, NM_001171661.1:c.*863T>C, NC_000022.11:g.42618910A>G, 77499608, NC_000022.11:g.42618910= +PA166157123 rs7750468 NC_000006.12:117755821 1 0 0 0 0 NC_000006.11:g.118076984G>C, 60599329, NC_000006.12:g.117755821=, rs7750468, 7750468, NC_000006.11:g.118076984G>A, rs60599329, NC_000006.12:g.117755821G>A, NC_000006.11:g.118076984=, NC_000006.12:g.117755821G>C +PA166157124 rs7754103 PA36017 SOD2 NC_000006.12:159640058 1 0 0 0 0 rs7754103, 7754103, rs57022833, NC_000006.11:g.160061090C>T, NC_000006.12:g.159640058C>T, NC_000006.11:g.160061090=, NC_000006.12:g.159640058=, 57022833 +PA166265661 rs77542827 NC_000009.12:63832271 1 0 0 0 0 NC_000009.11:g.68428005G>C, NC_000009.11:g.68428005=, NC_000009.11:g.68428005G>T, rs77542827, 77542827, NC_000009.12:g.63832271=, NC_000009.12:g.63832271G>C, NC_000009.12:g.63832271G>T +PA166157125 rs7754840 PA134871999 CDKAL1 NC_000006.12:20661019 1 1 0 0 0 NC_000006.12:g.20661019G>A, rs7754840, 7754840, NG_021195.1:g.131563=, NC_000006.11:g.20661250G>T, NC_000006.12:g.20661019G>C, NC_000006.11:g.20661250=, XR_926266.1:n.651+11642G>C, NC_000006.12:g.20661019G>T, XM_011514719.1:c.371+11642G>C, NG_021195.1:g.131563G>T, NG_021195.2:g.131563G>T, XR_926265.1:n.538+11642G>C, NC_000006.12:g.20661019=, 58191505, NC_000006.11:g.20661250G>A, NG_021195.2:g.131563=, NC_000006.11:g.20661250G>C, XM_006715128.2:c.371+11642G>C, XM_011514718.1:c.371+11642G>C, NG_021195.2:g.131563G>C, XM_005249203.1:c.371+11642G>C, XM_005249201.1:c.371+11642G>C, rs58191505, rs9460543, 9460543, NM_017774.3:c.371+11642G>C, NG_021195.2:g.131563G>A, NG_021195.1:g.131563G>A, NG_021195.1:g.131563G>C, XR_926267.1:n.538+11642G>C, XM_005249202.1:c.161+11642G>C +PA166182330 rs77567654 PA134968998 GREM2 NC_000001.11:240549089 1 1 0 0 0 NC_000001.11:g.240549089A>G, NC_000001.10:g.240712389=, NC_000001.11:g.240549089=, 77567654, NC_000001.10:g.240712389A>G, rs77567654, NG_053136.1:g.68284=, NG_053136.1:g.68284T>C +PA166157126 rs7756992 PA134871999 CDKAL1 NC_000006.12:20679478 3 1 0 0 0 60638889, NG_021195.2:g.150022=, XM_006715128.2:c.371+30101A>G, XM_005249202.1:c.161+30101A>G, NG_021195.1:g.150022A>T, NG_021195.2:g.150022A>T, rs52806824, NM_017774.3:c.371+30101A>G, NC_000006.12:g.20679478=, NC_000006.11:g.20679709A>T, rs60638889, XR_926266.1:n.651+30101A>G, XM_005249201.1:c.371+30101A>G, NG_021195.1:g.150022A>G, XR_926267.1:n.538+30101A>G, NG_021195.2:g.150022A>G, NC_000006.11:g.20679709A>G, NG_021195.1:g.150022=, 7756992, XM_011514719.1:c.371+30101A>G, rs7756992, NC_000006.12:g.20679478A>T, NC_000006.12:g.20679478A>G, XR_926265.1:n.538+30101A>G, XM_005249203.1:c.371+30101A>G, XM_011514718.1:c.371+30101A>G, 52806824, NC_000006.11:g.20679709= +PA166157127 rs7757130 NC_000006.12:112996060 1 0 0 0 0 NC_000006.11:g.113317262=, NC_000006.11:g.113317262C>A, 7757130, NC_000006.12:g.112996060=, NC_000006.12:g.112996060C>A, rs7757130, XR_942887.1:n.973-1377C>A +PA166285301 rs77576241 PA33308 PIK3CA NC_000003.12:179156079 1 0 0 0 0 NC_000003.11:g.178873867C>T, NC_000003.12:g.179156079C>T, NG_012113.2:g.12557=, 77576241, NG_012113.2:g.12557C>T, NC_000003.11:g.178873867=, rs77576241, NC_000003.12:g.179156079= +PA166258781 rs77583603 NC_000002.12:186089405 1 1 0 0 0 NC_000002.11:g.186954132A>G, NC_000002.11:g.186954132=, NC_000002.12:g.186089405A>G, NC_000002.12:g.186089405=, 77583603, rs77583603 +PA166209223 rs775887911 PA35 ADRA2A NC_000010.11:111078040 1 1 0 0 0 NP_000672.3:p.Pro15Leu, NC_000010.10:g.112837798C>T, NP_000672.3:p.Pro15=, NC_000010.10:g.112837798=, rs775887911, NC_000010.11:g.111078040C>T, NG_012020.1:g.6009=, NC_000010.11:g.111078040=, 775887911, NG_012020.1:g.6009C>T +PA166184603 rs7763748 PA31945 OPRM1 NC_000006.12:154141570 1 0 0 0 0 NC_000006.11:g.154462705C>A, NC_000006.11:g.154462705=, NG_021208.2:g.136070C>T, NC_000006.12:g.154141570=, NC_000006.12:g.154141570C>A, NG_021208.2:g.136070=, NC_000006.12:g.154141570C>T, 7763748, NG_021208.2:g.136070C>A, rs7763748, NC_000006.11:g.154462705C>T +PA166178070 rs77646904 PA109 CFTR NC_000007.14:117559629 1 0 0 0 0 NP_000483.3:p.Val520=, rs77646904, NC_000007.14:g.117559629G>T, NC_000007.13:g.117199683=, NP_000483.3:p.Val520Ile, NC_000007.13:g.117199683G>A, NG_016465.4:g.98846G>T, NC_000007.14:g.117559629=, NC_000007.14:g.117559629G>A, 77646904, NG_016465.4:g.98846G>A, NP_000483.3:p.Val520Phe, NC_000007.13:g.117199683G>T, NG_016465.4:g.98846= +PA166157267 rs776746 PA131,PA134962723 CYP3A5,ZSCAN25 NC_000007.14:99672916 880 62 36 0 0 58244770, NG_007938.2:g.12083=, XM_005250170.1:c.-357-1G>A, XM_011515845.1:c.-463-1A>G, rs11266830, NR_033810.1:n.689-1G>A, XM_005250169.1:c.189-237G>A, rs776746, NR_033807.2:n.717-1A>G, NR_033807.2:n.717-1G>A, XM_005250171.1:c.-253-1G>A, 11266830, rs386613022, NC_000007.13:g.99270539C>T, XR_927402.1:n.1466+48736T>C, NG_007938.2:g.12083A>G, 776746, XM_006715859.2:c.219-237A>G, XM_005250173.1:c.-331-237G>A, XM_005250198.1:c.806-4288C>T, XM_011515846.1:c.-331-237A>G, NC_000007.14:g.99672916=, XM_011515844.1:c.-229-237A>G, NG_007938.1:g.12083G=, NG_007938.1:g.12083G>A, NR_033808.1:n.689-1G>A, NC_000007.14:g.99672916T>C, rs10361242, 386613022, NM_001291829.1:c.-253-1A>G, NM_001291829.1:c.-253-1G>A, NR_033809.1:n.581-237G>A, NR_033811.1:n.321-1G>A, XM_011515843.1:c.-254A>G, XM_011515847.1:c.-571-1A>G, NM_001190484.2:c.219-237A>G, NM_001190484.2:c.219-237G>A, NM_001291830.1:c.189-237A>G, NM_001291830.1:c.189-237G>A, rs58244770, NM_000777.4:c.219-237A>G, NM_000777.4:c.219-237G>A, 10361242, NR_033812.1:n.321-1G>A, XM_005250172.1:c.-254G>A, XR_927383.1:n.344-237A>G +PA166207521 rs776769484 PA126 CYP2C9 NC_000010.11:94986147 1 0 0 0 0 NC_000010.10:g.96745904A>G, NG_008385.1:g.52490=, NP_000762.2:p.Ser422=, rs776769484, NG_008385.2:g.52990=, NG_008385.1:g.52490A>G, NG_008385.2:g.52990A>G, NC_000010.11:g.94986147=, NC_000010.11:g.94986147A>G, NP_000762.2:p.Ser422Gly, NC_000010.10:g.96745904=, 776769484 +PA166179692 rs776817009 PA344 SULT1A3 NC_000016.10:30200747 4 3 0 0 0 776817009, NP_808220.1:p.Thr7=, NC_000016.9:g.30212068A>C, NC_000016.10:g.30200747=, rs776817009, NC_000016.10:g.30200747A>C, NP_808220.1:p.Thr7Pro, NC_000016.9:g.30212068= +PA166157128 rs7769719 PA33557 PPARD NC_000006.12:35394748 1 1 0 0 0 NC_000006.12:g.35394748=, NC_000006.12:g.35394748G>C, NC_000006.11:g.35362525=, NC_000006.12:g.35394748G>A, XM_011514707.1:c.-101-16239G>A, XM_005249191.1:c.-101-16239G>A, XM_005249194.1:c.-101-16239G>A, XM_005249192.1:c.-197-2750G>A, XM_006715120.1:c.-101-16239G>A, XM_011514711.1:c.-101-16239G>A, rs57589726, 57589726, NG_012345.2:g.57191G>A, NC_000006.11:g.35362525G>A, NC_000006.11:g.35362525G>C, NG_012345.2:g.57191G>C, NM_001171818.1:c.-197-2750G>A, NG_012345.1:g.57191=, NM_001171820.1:c.-101-16239G>A, XM_006715121.1:c.-101-16239G>A, XM_011514710.1:c.-101-16239G>A, XM_011514713.1:c.-101-16239G>A, NG_012345.1:g.57191G>C, NG_012345.1:g.57191G>A, NM_006238.4:c.-101-16239G>A, XM_005249193.1:c.-101-16239G>A, NM_177435.2:c.-101-16239G>A, NM_001171819.1:c.14-25379G>A, XM_006715123.1:c.-101-16239G>A, XM_011514709.1:c.-197-2750G>A, NG_012345.2:g.57191=, 7769719, XM_011514712.1:c.-101-16239G>A, rs7769719, XM_011514708.1:c.-101-16239G>A +PA166235961 rs77709286 PA34335 RET NC_000010.11:43114502 0 0 0 0 2 77709286, NC_000010.10:g.43609950C>G, rs77709286, NG_007489.1:g.42434=, NC_000010.11:g.43114502C>G, NC_000010.11:g.43114502=, NP_066124.1:p.Cys634Trp, NC_000010.10:g.43609950=, NG_007489.1:g.42434C>G, NP_066124.1:p.Cys634= +PA166262062 rs777098658 PA121 CYP2A6 NC_000019.10:40848688 1 1 0 0 0 777098658, NG_008377.1:g.6760=, NC_000019.10:g.40848688=, NC_000019.9:g.41354593A>G, NP_000753.3:p.Val140Ala, rs777098658, NG_008377.1:g.6760T>C, NC_000019.10:g.40848688A>G, NC_000019.9:g.41354593=, NP_000753.3:p.Val140= +PA166157129 rs7771466 PA29800 IL17F NC_000006.12:52239311 1 0 0 0 0 61434221, NC_000006.12:g.52239311C>T, NC_000006.11:g.52104109C>A, XR_926873.1:n.792C>A, NG_031869.1:g.10190G>A, NC_000006.12:g.52239311=, NC_000006.11:g.52104109C>T, XM_011514276.1:c.34-361G>T, 7771466, rs7771466, NG_031869.1:g.10190=, NC_000006.12:g.52239311C>A, NM_052872.3:c.34-361G>T, NG_031869.1:g.10190G>T, NC_000006.11:g.52104109=, rs61434221 +PA166157130 rs7772821 PA134881141 TAAR6 NC_000006.12:132571367 1 1 0 0 0 NC_000006.11:g.132892506T>G, rs7772821, NC_000006.11:g.132892506T>C, 58161682, NC_000006.12:g.132571367=, NC_000006.12:g.132571367T>C, NG_016544.1:g.6046T>C, NM_175067.1:c.*8T>G, rs58161682, 7772821, NC_000006.11:g.132892506=, NC_000006.12:g.132571367T>G, NG_016544.1:g.6046T>G, NG_016544.1:g.6046= +PA166159699 rs777425216 PA145 DPYD NC_000001.11:97515815 1 0 0 0 0 rs777425216, NC_000001.11:g.97515815C>A, NP_000101.2:p.Ala551Thr, NG_008807.2:g.410245G>T, NG_008807.2:g.410245=, NC_000001.10:g.97981371=, NG_008807.2:g.410245G>A, NC_000001.10:g.97981371C>T, 777425216, NC_000001.10:g.97981371C>A, NP_000101.2:p.Ala551Ser, NP_000101.2:p.Ala551=, NC_000001.11:g.97515815C>T, NC_000001.11:g.97515815= +PA166156272 rs777560972 PA128 CYP2D6 NC_000022.11:42126750 1 1 0 0 0 NM_001025161.2:c.1165C>T, NW_004504305.1:g.49077G>A, XP_011528268.1:p.Arg440Cys, NC_000022.11:g.42126750G>A, XM_005278354.3:c.1018C>T, XP_011546053.1:p.Arg368Cys, XM_011529971.1:c.1174C>T, XM_011547750.1:c.1174C>T, NG_008376.3:g.8242C>T, NC_000022.10:g.42522752=, XM_005278353.1:c.1174C>T, XM_011529966.1:c.1318C>T, XM_011529967.1:c.1318C>T, XM_005278354.1:c.1018C>T, XM_011529969.1:c.1174C>T, 777560972, NP_000097.3:p.Arg440Cys, rs777560972, XM_011529968.1:c.1318C>T, XR_952745.1:n.2333C>T, XP_011546052.1:p.Arg392Cys, XP_011528269.1:p.Arg440Cys, XM_011547751.1:c.1102C>T, NP_000097.3:p.Arg440=, XP_011528270.1:p.Arg440Cys, XP_011528272.1:p.Arg389Cys, NC_000022.11:g.42126750=, XP_005278410.1:p.Arg392Cys, NG_008376.4:g.9061=, NC_000022.10:g.42522752G>A, NP_001020332.2:p.Arg389Cys, XP_005278411.1:p.Arg340Cys, XP_011528271.1:p.Arg392Cys, NM_000106.5:c.1318C>T, NW_009646208.1:g.12316G>A, NG_008376.3:g.8242=, NT_187682.1:g.49091G>A, XM_011529970.1:c.1165C>T, NG_008376.4:g.9061C>T, XP_011528273.1:p.Arg392Cys +PA166184830 rs77760615 NC_000010.11:94932870 1 0 0 0 0 NC_000010.10:g.96692627=, NC_000010.11:g.94932870=, 77760615, rs77760615, NC_000010.10:g.96692627A>G, NC_000010.11:g.94932870A>G +PA166178595 rs7776341 PA31945 OPRM1 NC_000006.12:154027470 1 0 0 0 0 7776341, rs7776341, 61112487, 17463366, NC_000006.11:g.154348605=, NG_021208.2:g.21970=, NG_021208.2:g.21970A>C, NC_000006.12:g.154027470=, NC_000006.12:g.154027470A>C, NC_000006.11:g.154348605A>C +PA166196281 rs777686348 PA356 TPMT NC_000006.12:18147845 3 1 1 0 0 NC_000006.11:g.18148076C>T, NC_000006.12:g.18147845=, 777686348, NG_012137.2:g.12299=, NG_012137.2:g.12299G>A, NC_000006.11:g.18148076=, rs777686348, NP_000358.1:p.Gly71Arg, NC_000006.12:g.18147845C>T, NP_000358.1:p.Gly71= +PA166178413 rs77769901 PA134883013 SETD3 NC_000014.9:99447319 1 1 0 0 0 NC_000014.9:g.99447319A>G, 77769901, rs77769901, NC_000014.9:g.99447319=, NC_000014.8:g.99913656A>G, NC_000014.8:g.99913656= +PA166157427 rs7779029 PA35647 SEMA3C NC_000007.14:80902796 1 1 0 0 0 NG_054744.1:g.24584A>G, rs7779029, 7779029, 61425409, NC_000007.13:g.80532112=, NC_000007.14:g.80902796=, NM_006379.3:c.103+13883A>G, NG_054744.1:g.24584=, NC_000007.14:g.80902796T>C, XM_005250112.1:c.157+13883A>G, rs61425409, NC_000007.13:g.80532112T>C, XM_005250113.1:c.-72+3033A>G +PA166242083 rs778013004 PA130 CYP3A4 NC_000007.14:99770166 2 1 1 0 0 rs778013004, NC_000007.14:g.99770166=, NP_059488.2:p.Arg130=, NG_008421.1:g.19020C>G, NP_059488.2:p.Arg130Gly, NC_000007.14:g.99770166G>C, NC_000007.14:g.99770166G>A, NC_000007.13:g.99367789G>C, NG_008421.1:g.19020=, NC_000007.13:g.99367789G>A, NC_000007.13:g.99367789=, NP_059488.2:p.Arg130Ter, 778013004, NG_008421.1:g.19020C>T +PA166262042 rs778019189 PA121 CYP2A6 NC_000019.10:40845370 1 1 0 0 0 NC_000019.10:g.40845370=, NC_000019.9:g.41351275=, NC_000019.9:g.41351275A>G, NG_008377.1:g.10078T>G, NC_000019.9:g.41351275A>C, NG_008377.1:g.10078T>C, rs778019189, NC_000019.10:g.40845370A>C, 778019189, NC_000019.10:g.40845370A>G, NG_008377.1:g.10078=, NP_000753.3:p.Phe362Ser, NP_000753.3:p.Phe362=, NP_000753.3:p.Phe362Cys +PA166200921 rs778068631 PA107 CES1 NC_000016.10:55820390 3 1 0 0 0 NC_000016.9:g.55854302=, NG_012057.1:g.17774del, NP_001257.4:p.Asp260fs, NC_000016.10:g.55820390del, NC_000016.10:g.55820390=, NP_001257.4:p.Asp260=, CES1 D260fs, rs71647872, NC_000016.9:g.55854302del, 778068631, NG_012057.1:g.17774=, rs778068631, CES1 Asp260Glu (frameshift) +PA166154245 rs778258371 PA124 CYP2C19 NC_000010.11:94781991 4 0 0 0 0 NC_000010.10:g.96541748=, NG_008384.3:g.24311=, NG_008384.3:g.24311G>A, NG_008384.2:g.24286G>A, NC_000010.11:g.94781991G>A, NP_000760.1:p.Met271Ile, rs778258371, NP_000760.1:p.Met271=, 778258371, NM_000769.2:c.813G>A, NC_000010.11:g.94781991=, NM_000769.1:c.813G>A, NC_000010.10:g.96541748G>A +PA166154684 rs778293 PA134924986 DAOA NC_000013.11:105516850 1 1 0 0 0 60897494, NC_000013.10:g.106169199C>T, 386613137, NC_000013.11:g.105516850C>T, 778293, NC_000013.11:g.105516850=, NC_000013.11:g.105516850C>A, rs386613137, NC_000013.10:g.106169199C>G, NC_000013.11:g.105516850C>G, rs778293, rs60897494, NC_000013.10:g.106169199=, NC_000013.10:g.106169199C>A +PA166164944 rs77834169 PA109 CFTR NC_000007.14:117530974 1 1 0 1 4 NC_000007.13:g.117171028C>G, NG_016465.4:g.70191C>A, NC_000007.14:g.117530974C>A, NC_000007.13:g.117171028C>A, NP_000483.3:p.Arg117Gly, NC_000007.14:g.117530974=, NG_016465.4:g.70191=, NG_016465.4:g.70191C>T, NP_000483.3:p.Arg117=, NP_000483.3:p.Arg117Cys, NC_000007.13:g.117171028=, 77834169, NC_000007.13:g.117171028C>T, NC_000007.14:g.117530974C>T, NC_000007.14:g.117530974C>G, rs77834169, NG_016465.4:g.70191C>G, NP_000483.3:p.Arg117Ser +PA166157428 rs7787082 PA267 ABCB1 NC_000007.14:87527735 4 2 0 0 0 NC_000007.13:g.87157051G>A, rs56434207, NC_000007.13:g.87157051=, 56854239, rs7787082, 7787082, rs56854239, NG_011513.1:g.190514C>T, 10352064, 56434207, rs17333784, 17333784, NC_000007.14:g.87527735G>A, NC_000007.14:g.87527735=, NM_000927.4:c.2685+3559C>T, rs10352064, NG_011513.1:g.190514= +PA166154758 rs77876672 PA27335 DIAPH3 NC_000013.11:59744885 1 1 0 0 0 XM_011535260.1:c.3320-2332G>A, NC_000013.11:g.59744885=, NM_001258366.1:c.3286+29304G>A, rs77876672, NM_001258367.1:c.3181+29304G>A, NC_000013.11:g.59744885C>T, NM_001258368.1:c.3109+29304G>A, NG_032693.1:g.424101=, NM_001042517.1:c.3319+29304G>A, NG_032693.2:g.424101=, XM_006719876.1:c.2530+29304G>A, XM_011535261.1:c.3109+29304G>A, NC_000013.10:g.60319019C>T, NG_032693.1:g.424101G>A, NG_032693.2:g.424101G>A, NC_000013.10:g.60319019=, XM_011535258.1:c.3319+29304G>A, XM_011535262.1:c.2530+29304G>A, 77876672, XM_011535259.1:c.3320-2329G>A, XR_941672.1:n.3481+29304G>A +PA166157429 rs7789655 PA28992 GRM3 NC_000007.14:86851697 1 0 0 0 0 XM_005250288.1:c.1499+1153T>G, rs10381422, rs59016638, NC_000007.14:g.86851697=, NC_000007.13:g.86481013T>G, NC_000007.13:g.86481013=, rs12704292, NC_000007.14:g.86851697T>G, XM_005250289.1:c.1342+1153T>G, NM_000840.2:c.2566+1153T>G, 7789655, rs7789655, XM_005250287.1:c.2182+1153T>G, 12704292, XM_011516088.1:c.1499+1153T>G, XM_005250286.1:c.2566+1153T>G, 10381422, 59016638 +PA166395161 rs77902683 PA109 CFTR NC_000007.14:117642568 0 0 0 0 1 77902683, NC_000007.13:g.117282622=, NC_000007.14:g.117642568G>C, NC_000007.13:g.117282622G>T, NC_000007.14:g.117642568G>A, NG_016465.4:g.181785G>C, NG_016465.4:g.181785G>A, NP_000483.3:p.Arg1283Met, NP_000483.3:p.Arg1283Thr, NG_016465.4:g.181785=, NC_000007.14:g.117642568=, NG_016465.4:g.181785G>T, NP_000483.3:p.Arg1283Lys, NC_000007.13:g.117282622G>C, NC_000007.13:g.117282622G>A, rs77902683, NC_000007.14:g.117642568G>T, NP_000483.3:p.Arg1283= +PA166157701 rs77905 PA136 DBH NC_000009.12:133652975 2 0 0 0 0 rs737340, 386613196, 11541837, 17851477, NC_000009.12:g.133652975A>C, rs11541837, NC_000009.12:g.133652975A>G, rs17221155, NM_000787.3:c.1410A>G, NC_000009.11:g.136518097=, NP_000778.3:p.Thr470=, rs77905, 17221155, NC_000009.12:g.133652975=, NG_008645.1:g.21613A>C, NG_008645.1:g.21613A>G, NG_008645.1:g.21613=, NC_000009.11:g.136518097A>T, NC_000009.11:g.136518097A>G, rs17851477, 737340, NC_000009.12:g.133652975A>T, NG_008645.1:g.21613A>T, 57947596, rs57947596, 77905, rs386613196, NC_000009.11:g.136518097A>C +PA166156196 rs77913725 PA128 CYP2D6 NC_000022.11:42128185 1 1 1 0 0 NT_187682.1:g.50526C>T, NG_008376.3:g.6807=, XM_005278353.1:c.688G>A, XM_011548819.1:c.532G>A, XP_011528272.1:p.Glu227Lys, NG_008376.3:g.6807G>A, XM_011529972.1:c.832G>A, NC_000022.11:g.42128185C>T, XP_011528269.1:p.Glu278Lys, XP_011547121.1:p.Glu178Lys, XP_011528271.1:p.Glu230Lys, XM_005278354.3:c.532G>A, XM_011529969.1:c.688G>A, 548942748, XM_011547756.1:c.-1850C>T, XP_011528274.1:p.Glu278Lys, NC_000022.11:g.42128185=, NP_000097.3:p.Glu278Lys, XM_011547750.1:c.688G>A, XP_011546053.1:p.Glu206Lys, XM_011529968.1:c.832G>A, XP_011528268.1:p.Glu278Lys, NP_000097.3:p.Glu278=, rs77913725, XP_011528270.1:p.Glu278Lys, XM_011529967.1:c.832G>A, XM_011547751.1:c.616G>A, XM_011529971.1:c.688G>A, XR_952745.1:n.1989G>A, NC_000022.10:g.42524187=, XP_011545843.1:p.Glu178Lys, XM_011529966.1:c.832G>A, XM_005278354.1:c.532G>A, XR_430455.2:n.-1686C>T, NG_008376.4:g.7626=, NP_001020332.2:p.Glu227Lys, XP_005278410.1:p.Glu230Lys, NM_000106.5:c.832G>A, XP_011528273.1:p.Glu230Lys, NM_001025161.2:c.679G>A, NW_004504305.1:g.50512C>T, NG_008376.4:g.7626G>A, XP_011546052.1:p.Glu230Lys, NW_009646208.1:g.13751C>T, XP_005278411.1:p.Glu178Lys, XM_011547541.1:c.532G>A, rs548942748, NC_000022.10:g.42524187C>T, 77913725, XM_011529970.1:c.679G>A +PA166160067 rs7792118 PA38657 GLCCI1 NC_000007.14:7978850 1 0 0 0 0 rs7792118, 7792118, 56612287, NG_032073.1:g.15108=, NC_000007.14:g.7978850=, NC_000007.13:g.8018481A>G, NC_000007.14:g.7978850A>G, NG_032073.1:g.15108A>G, NC_000007.13:g.8018481= +PA166161186 rs77932196 PA109 CFTR NC_000007.14:117540270 6 2 1 1 3 rs77932196, NG_016465.4:g.79487=, NG_016465.4:g.79487G>A, NC_000007.14:g.117540270G>C, NP_000483.3:p.Arg347=, NC_000007.13:g.117180324=, NG_016465.4:g.79487G>C, NC_000007.14:g.117540270G>A, NC_000007.13:g.117180324G>C, NP_000483.3:p.Arg347Leu, NC_000007.13:g.117180324G>A, NP_000483.3:p.Arg347His, 77932196, NC_000007.14:g.117540270=, NG_016465.4:g.79487G>T, NC_000007.14:g.117540270G>T, NC_000007.13:g.117180324G>T, NP_000483.3:p.Arg347Pro +PA166307542 rs779373043 PA390 ABCG2 NC_000004.12:88097545 1 0 0 0 0 NC_000004.11:g.89018697=, NP_004818.2:p.Ser519Pro, 779373043, NG_032067.2:g.138778T>C, NC_000004.12:g.88097545A>G, NC_000004.11:g.89018697A>G, rs779373043, NC_000004.12:g.88097545=, NP_004818.2:p.Ser519=, NG_032067.2:g.138778= +PA166157430 rs7793837 PA26875 CRHR2 NC_000007.14:30687161 3 1 0 0 0 58713119, NC_000007.13:g.30726777A>T, rs7793837, NM_001202481.1:c.-166-546T>A, NC_000007.14:g.30687161=, NC_000007.14:g.30687161A>T, rs10384543, 7793837, NG_029169.1:g.17943=, NG_029169.1:g.17943T>A, NC_000007.13:g.30726777A>C, NM_001202475.1:c.184+2030T>A, rs58713119, NG_029169.1:g.17943T>G, 10384543, NC_000007.13:g.30726777=, NC_000007.14:g.30687161A>C +PA166159602 rs7793861 PA27123 CYP51A1 NC_000007.14:92113414 1 0 0 0 0 11544701, rs7793861, 7793861, NG_007968.1:g.26113G>C, NC_000007.14:g.92113414=, NC_000007.13:g.91742728=, NC_000007.13:g.91742728C>G, 10384553, 60812360, NC_000007.14:g.92113414C>G, NG_007968.1:g.26113= +PA166157431 rs7794356 PA38124 GALNT17 NC_000007.14:71273743 1 1 0 0 0 NC_000007.13:g.70738729=, XM_011516467.1:c.239-61807G>A, NC_000007.14:g.71273743G>A, XM_011516469.1:c.239-61807G>A, NM_022479.2:c.239-61807G>A, NC_000007.14:g.71273743=, NC_000007.14:g.71273743G>C, XM_011516468.1:c.239-61807G>A, rs7794356, 7794356, 57776492, rs57776492, NC_000007.13:g.70738729G>A, NC_000007.13:g.70738729G>C +PA166208283 rs779501712 PA124 CYP2C19 NC_000010.11:94852880 1 0 0 0 0 NC_000010.10:g.96612637=, NC_000010.10:g.96612637C>T, rs779501712, NC_000010.11:g.94852880C>T, NP_000760.1:p.Pro480=, NC_000010.11:g.94852880=, NG_008384.3:g.95200=, 779501712, NG_008384.3:g.95200C>T, NP_000760.1:p.Pro480Leu +PA166266261 rs779597455 PA53 APOC3 NC_000011.10:116830593 1 0 0 0 0 NG_008949.1:g.5686=, NG_008949.1:g.5686G>A, rs779597455, NC_000011.10:g.116830593=, NC_000011.9:g.116701309=, NC_000011.9:g.116701309G>A, NC_000011.10:g.116830593G>A, NP_000031.1:p.Arg4Gln, 779597455, NP_000031.1:p.Arg4= +PA166319764 rs779728902 PA145 DPYD NC_000001.11:97699486 1 0 0 0 0 NC_000001.11:g.97699486=, NC_000001.11:g.97699486A>T, NP_000101.2:p.Met182Lys, NC_000001.10:g.98165042A>G, NC_000001.11:g.97699486A>G, NC_000001.10:g.98165042=, NP_000101.2:p.Met182=, NC_000001.10:g.98165042A>T, rs779728902, NG_008807.2:g.226574=, 779728902, NG_008807.2:g.226574T>A, NG_008807.2:g.226574T>C, NP_000101.2:p.Met182Thr +PA166153912 rs77977790 PA33373 PAPPA2 NC_000001.11:176726343 1 0 0 0 0 NC_000001.11:g.176726343=, XM_011509859.1:c.3799-13283T>C, 77977790, XM_011509857.1:c.3799-13283T>C, NG_023390.1:g.268173=, XM_005245422.1:c.3799-13283T>C, NM_020318.2:c.3799-13283T>C, XR_921907.1:n.4963-13283T>C, NG_023390.1:g.268173T>C, rs77977790, XM_005245422.2:c.3799-13283T>C, NC_000001.11:g.176726343T>C, XM_011509858.1:c.3799-13283T>C, NC_000001.10:g.176695479T>C, NC_000001.10:g.176695479= +PA166157432 rs7799039 PA228 LEP NC_000007.14:128238730 8 1 0 0 0 NC_000007.14:g.128238730G>A, NC_000007.14:g.128238730=, NG_007450.1:g.2453=, NG_044977.1:g.475G>C, NG_044977.1:g.475G>A, XR_927945.1:n.-1932C>T, NC_000007.14:g.128238730G>C, NG_007450.1:g.2453G>A, NG_044977.1:g.475=, NC_000007.13:g.127878783=, NG_007450.1:g.2453G>C, Leptin G2548A polymorphism, located in the promoter [PMID: 28938640], 7799039, rs7799039, NC_000007.13:g.127878783G>C, NC_000007.13:g.127878783G>A +PA166163219 rs780025995 PA145 DPYD NC_000001.11:97691769 1 0 0 0 0 NC_000001.11:g.97691769=, NG_008807.2:g.234291C>T, NC_000001.10:g.98157325G>A, NP_000101.2:p.Pro237=, 780025995, rs780025995, NC_000001.10:g.98157325=, NP_000101.2:p.Pro237Leu, NG_008807.2:g.234291=, NC_000001.11:g.97691769G>A +PA166160073 rs7800750 PA38657 GLCCI1 NC_000007.14:7985680 1 0 0 0 0 7800750, rs7800750, NG_032073.1:g.21938T>C, NC_000007.14:g.7985680T>C, NC_000007.13:g.8025311=, NC_000007.13:g.8025311T>C, NC_000007.14:g.7985680=, NG_032073.1:g.21938= +PA166155600 rs780093 PA28611 GCKR NC_000002.12:27519736 1 0 0 0 0 8179238, NC_000002.11:g.27742603=, rs780093, NG_028024.1:g.27898T>C, 61268282, XM_011532761.1:c.1419+799T>C, NC_000002.11:g.27742603T>C, rs8179238, NC_000002.12:g.27519736T>C, XM_005264257.1:c.1503+799T>C, XM_005264258.1:c.1002+799T>C, 386613274, NM_001486.3:c.1572+799T>C, NC_000002.12:g.27519736=, XM_011532762.1:c.1002+799T>C, NG_028024.1:g.27898=, XM_005264256.1:c.1566+799T>C, rs61268282, 780093, rs386613274 +PA166155601 rs780094 PA28611 GCKR NC_000002.12:27518370 2 0 0 0 0 XM_005264256.1:c.1417-418T>C, rs780094, NG_028024.1:g.26532=, NC_000002.12:g.27518370T>C, rs59441336, XM_011532762.1:c.853-418T>C, 17705107, 386613275, NG_028024.1:g.26532T>C, XM_005264257.1:c.1354-418T>C, XM_011532761.1:c.1270-418T>C, rs386613275, NM_001486.3:c.1423-418T>C, XM_005264258.1:c.853-418T>C, NC_000002.11:g.27741237=, NC_000002.12:g.27518370=, 59441336, rs17705107, NC_000002.11:g.27741237T>C, 780094 +PA166156020 rs78015114 NC_000021.9:18940294 1 1 0 0 0 78015114, rs78015114, NC_000021.8:g.20312612=, NC_000021.8:g.20312612T>C, NC_000021.9:g.18940294=, NC_000021.9:g.18940294T>C +PA166160095 rs7801924 PA38657 GLCCI1 NC_000007.14:8040851 1 0 0 0 0 NC_000007.13:g.8080481A>G, NC_000007.14:g.8040851A>G, NC_000007.13:g.8080481A>C, NG_032073.1:g.77108A>T, NC_000007.14:g.8040851A>C, NC_000007.14:g.8040851=, NC_000007.13:g.8080481A>T, NG_032073.1:g.77108=, NC_000007.13:g.8080481=, NG_032073.1:g.77108A>G, 57757007, NC_000007.14:g.8040851A>T, NG_032073.1:g.77108A>C, 7801924, rs7801924 +PA166157433 rs7802493 NC_000007.14:139014844 1 0 0 0 0 NC_000007.14:g.139014844=, 58257809, rs58257809, NC_000007.13:g.138699590=, rs7802493, NC_000007.14:g.139014844T>C, 7802493, NC_000007.13:g.138699590T>C +PA166179983 rs7802773 PA267 ABCB1 NC_000007.14:87589031 1 0 0 0 0 NC_000007.14:g.87589031A>G, NC_000007.13:g.87218347A>C, NG_011513.1:g.129218=, 61538391, NC_000007.13:g.87218347A>G, rs7802773, NC_000007.14:g.87589031A>T, 7802773, NC_000007.13:g.87218347A>T, NG_011513.1:g.129218T>G, NG_011513.1:g.129218T>C, NG_011513.1:g.129218T>A, NC_000007.14:g.87589031A>C, NC_000007.13:g.87218347=, NC_000007.14:g.87589031=, 10364005 +PA166307522 rs780310265 PA390 ABCG2 NC_000004.12:88099359 1 0 0 0 0 NG_032067.2:g.136964G>A, NC_000004.12:g.88099359=, NC_000004.11:g.89020511C>T, NC_000004.11:g.89020511=, NP_004818.2:p.Ser486=, NC_000004.12:g.88099359C>T, rs780310265, NG_032067.2:g.136964=, NP_004818.2:p.Ser486Asn, 780310265 +PA166153913 rs78060119 PA145 DPYD NC_000001.11:97573943 6 2 1 2 0 XP_005270619.1:p.Glu386Ter, 386508634, NG_008807.2:g.352117=, NP_000101.2:p.Glu386=, XP_005270620.1:p.Glu386Ter, NM_000110.3:c.1156G>T, XM_005270562.1:c.1156G>T, XM_005270563.1:c.1156G>T, XP_006710460.1:p.Glu386Ter, XM_005270561.1:c.1045G>T, XP_005270618.1:p.Glu349Ter, XP_005270619.2:p.Glu386Ter, NG_008807.2:g.352117G>T, NC_000001.10:g.98039499=, DPYD*12, 78060119, XP_005270621.1:p.Glu386Ter, XM_005270564.1:c.1156G>T, NP_000101.2:p.Glu386Ter, XM_005270562.3:c.1156G>T, rs386508634, rs78060119, NC_000001.11:g.97573943=, XM_006710397.2:c.1156G>T, NC_000001.10:g.98039499C>A, NC_000001.11:g.97573943C>A +PA166179108 rs780668 PA134950750 SLC29A3 NC_000010.11:71351651 3 1 0 0 0 NP_060814.4:p.Ser158=, 946975, NG_017066.1:g.37399C>T, NC_000010.11:g.71351651C>T, NG_017066.2:g.37393=, 52798647, 780668, NC_000010.10:g.73111408=, NP_060814.4:p.Ser158Phe, NG_017066.2:g.37393C>T, rs780668, NC_000010.10:g.73111408C>T, NC_000010.11:g.71351651=, 58614882, NG_017066.1:g.37399=, 3740455 +PA166209781 rs780801862 PA126 CYP2C9 NC_000010.11:94949118 2 4 0 0 0 NG_008385.1:g.15461A>T, NG_008385.2:g.15961A>T, 780801862, NC_000010.10:g.96708875A>T, NP_000762.2:p.Asn218Ile, NG_008385.1:g.15461=, rs780801862, NC_000010.11:g.94949118A>T, NC_000010.10:g.96708875=, NG_008385.2:g.15961=, NC_000010.11:g.94949118=, NP_000762.2:p.Asn218= +PA166290046 rs780991919 PA123 CYP2B6 NC_000019.10:41012394 2 0 0 0 0 780991919, NG_007929.1:g.26096=, NG_007929.1:g.26096A>G, NC_000019.10:g.41012394=, NC_000019.9:g.41518299=, NP_000758.1:p.Tyr354=, NP_000758.1:p.Tyr354Cys, NC_000019.9:g.41518299A>G, rs780991919, NC_000019.10:g.41012394A>G +PA166319802 rs781184141 PA145 DPYD NC_000001.11:97699375 1 0 0 0 0 781184141, NC_000001.11:g.97699375=, NC_000001.10:g.98164931T>C, NG_008807.2:g.226685=, NP_000101.2:p.Lys219Arg, NC_000001.10:g.98164931=, rs781184141, NG_008807.2:g.226685A>G, NC_000001.11:g.97699375T>C, NP_000101.2:p.Lys219= +PA166223623 rs78132896 PA27822 EPHA7 NC_000006.12:93420339 1 1 0 0 0 NG_033944.1:g.4244A>G, NC_000006.12:g.93420339T>C, NC_000006.11:g.94130057T>C, NG_033944.1:g.4244=, rs78132896, NC_000006.12:g.93420339=, NC_000006.11:g.94130057=, 78132896 +PA166185235 rs7813478 PA31943 OPRK1 NC_000008.11:53244114 3 0 0 0 0 rs7813478, 7813478, NC_000008.11:g.53244114T>C, NC_000008.10:g.54156674T>C, NC_000008.10:g.54156674=, NC_000008.11:g.53244114=, 58553772 +PA166154246 rs781583846 PA126 CYP2C9 NC_000010.11:94988984 2 0 0 0 0 NC_000010.10:g.96748741=, NC_000010.11:g.94988984=, NP_000762.2:p.Ala477=, NM_000771.3:c.1429G>A, rs781583846, XM_005269575.1:c.1275-482G>A, NG_008385.2:g.55827G>A, NC_000010.11:g.94988984G>A, NG_008385.1:g.55327G>A, NP_000762.2:p.Ala477Thr, NG_008385.2:g.55827=, NC_000010.10:g.96748741G>A, NG_008385.1:g.55327=, 781583846 +PA166165176 rs7818112 PA30075 KCNQ3 NC_000008.11:132297456 1 0 0 0 0 NC_000008.10:g.133309703A>T, NG_008854.2:g.188302T>A, NC_000008.11:g.132297456A>G, NG_008854.2:g.188302=, NC_000008.10:g.133309703=, NG_008854.2:g.188302T>C, NC_000008.11:g.132297456=, 60822935, NC_000008.11:g.132297456A>C, NC_000008.10:g.133309703A>G, NC_000008.10:g.133309703A>C, 7818112, rs7818112, NG_008854.2:g.188302T>G, NC_000008.11:g.132297456A>T +PA166178082 rs78194216 PA109 CFTR NC_000007.14:117611637 1 0 0 0 0 NG_016465.4:g.150854C>A, NG_056128.2:g.4691=, NG_056128.2:g.4691C>A, NP_000483.3:p.Arg1066=, NC_000007.14:g.117611637C>T, rs78194216, NC_000007.13:g.117251691=, NC_000007.13:g.117251691C>T, NG_016465.4:g.150854=, NG_056128.1:g.4691C>A, NP_000483.3:p.Arg1066Ser, NG_016465.4:g.150854C>T, NC_000007.14:g.117611637=, NP_000483.3:p.Arg1066Cys, NC_000007.14:g.117611637C>A, NG_056128.2:g.4691C>T, NG_056128.1:g.4691C>T, 78194216, NG_056128.1:g.4691=, NC_000007.13:g.117251691C>A +PA166182420 rs78239784 PA134960382 CFHR4 NC_000001.11:196899970 1 1 0 0 0 78239784, NC_000001.10:g.196869100T>G, NG_028159.1:g.16957T>G, rs78239784, NC_000001.11:g.196899970=, NC_000001.11:g.196899970T>G, NG_028159.1:g.16957=, NC_000001.10:g.196869100= +PA166156952 rs783145 PA33405 PLG NC_000006.12:160731417 2 0 0 0 0 NC_000006.11:g.161152449G>A, NC_000006.12:g.160731417=, rs61440070, 783145, NG_016200.1:g.34225=, 17558839, rs1652510, 1652510, NM_000301.3:c.1438+185G>A, 61440070, NG_016200.1:g.34225G>A, rs17558839, NC_000006.11:g.161152449=, rs783145, NC_000006.12:g.160731417G>A +PA166300201 rs7832704 PA27792 ENPP2 NC_000008.11:119580575 2 0 0 0 0 13248323, NC_000008.11:g.119580575=, NC_000008.11:g.119580575G>A, rs7832704, NC_000008.10:g.120592815=, 7832704, 58997818, NG_029498.3:g.98002=, NG_029498.3:g.98002C>T, NC_000008.10:g.120592815G>A +PA166178432 rs78428806 NC_000006.12:138114070 1 1 0 0 0 rs78428806, 78428806, NC_000006.12:g.138114070G>A, NC_000006.11:g.138435207G>A, NC_000006.12:g.138114070=, NC_000006.11:g.138435207= +PA166177208 rs78482393 PA25504 ANO2 NC_000012.12:5917824 1 1 0 0 0 NC_000012.12:g.5917824=, NC_000012.11:g.6026990=, NC_000012.11:g.6026990G>A, 78482393, rs78482393, NC_000012.12:g.5917824G>A +PA166156198 rs78482768 PA128 CYP2D6 NC_000022.11:42129087 2 1 1 0 0 NW_004504305.1:g.51414G>C, NG_008376.4:g.6724=, NW_009646208.1:g.14653G>C, XM_011529969.1:c.308C>G, XR_952745.1:n.1608C>G, NC_000022.11:g.42129087G>A, NC_000022.11:g.42129087G>C, XP_005278411.1:p.Ala51Gly, XR_430455.2:n.-784G>C, NM_000106.5:c.451C>G, XM_005278354.1:c.152C>G, XM_011529970.1:c.353-143C>G, XM_011529966.1:c.451C>G, NT_187682.1:g.51428G>C, XM_011529971.1:c.308C>G, XP_011546053.1:p.Gln79Glu, XP_011545843.1:p.Ala51Gly, XP_011547121.1:p.Ala51Gly, XM_005278353.1:c.363-144C>G, NP_000097.3:p.Gln151Ter, XP_011528270.1:p.Gln151Glu, NC_000022.10:g.42525089=, rs78482768, NP_000097.3:p.Gln151Glu, NM_001025161.2:c.353-143C>G, XP_011528268.1:p.Gln151Glu, XP_011528271.1:p.Ala103Gly, XP_011528274.1:p.Gln151Glu, XM_011529968.1:c.451C>G, XP_011528273.1:p.Ala103Gly, NG_008376.4:g.6724C>T, XM_011547750.1:c.308C>G, XM_011548819.1:c.152C>G, XM_005278354.3:c.152C>G, 78482768, XM_011547756.1:c.-948G>C, XM_011529967.1:c.451C>G, XM_011547751.1:c.235C>G, NP_000097.3:p.Gln151=, NG_008376.4:g.6724C>G, NC_000022.11:g.42129087=, XP_011528269.1:p.Gln151Glu, XP_011546052.1:p.Ala103Gly, XM_011547541.1:c.152C>G, XM_011529972.1:c.451C>G, NG_008376.3:g.5905C>T, NG_008376.3:g.5905=, NG_008376.3:g.5905C>G, NC_000022.10:g.42525089G>A, NC_000022.10:g.42525089G>C +PA166154503 rs784888 PA24770,PA36042 AMHR2,SP1 NC_000012.12:53430724 3 1 0 0 0 NC_000012.11:g.53824508=, XM_011538186.1:c.600+442G>C, XM_005268794.1:c.853-453G>C, 60552084, NM_001164691.1:c.1141-453G>C, XM_011538174.1:c.1482+442G>C, XM_011538175.1:c.1467+442G>C, XM_011538181.1:c.1149+442G>C, XM_005268786.1:c.1347+442G>C, NC_000012.12:g.53430724G>C, NM_020547.2:c.1425+442G>C, XM_005268789.1:c.1014+442G>C, XM_011538173.1:c.1485+442G>C, rs60552084, XM_005268788.1:c.1092+442G>C, XM_011538177.1:c.1407+442G>C, XM_011538185.1:c.856-453G>C, rs784888, XM_011538178.1:c.1266+442G>C, XM_005268792.1:c.1161-453G>C, XM_011538179.1:c.1201-453G>C, XM_005268787.1:c.1155+442G>C, XM_005268791.1:c.972+442G>C, NC_000012.11:g.53824508G>C, NG_015981.1:g.11870G>C, 784888, XM_011538183.1:c.1337+442G>C, NM_001164690.1:c.1421+442G>C, XM_005268790.1:c.1277+442G>C, XM_011538180.1:c.1152+442G>C, XM_011538184.1:c.1221-453G>C, XM_011538176.1:c.1428+442G>C, NC_000012.12:g.53430724=, XM_011538182.1:c.1074+442G>C, NG_015981.1:g.11870= +PA166154504 rs784892 PA24770 AMHR2 NC_000012.12:53429100 3 1 0 0 0 NC_000012.11:g.53822884=, XM_005268786.1:c.889+90G>A, 59886142, NM_001164691.1:c.967+90G>A, rs784892, XM_005268792.1:c.967+90G>A, XM_011538180.1:c.694+90G>A, XM_005268790.1:c.967+90G>A, XM_011538184.1:c.1027+90G>A, 386613594, NC_000012.12:g.53429100G>A, XM_011538187.1:c.856-353G>A, rs59886142, NC_000012.11:g.53822884G>A, XM_005268793.1:c.967+90G>A, XM_005268787.1:c.697+90G>A, XM_005268791.1:c.514+90G>A, XM_011538185.1:c.856-2077G>A, XM_005268789.1:c.556+90G>A, XM_005268794.1:c.853-2077G>A, XM_011538182.1:c.616+90G>A, XM_011538186.1:c.143-353G>A, NC_000012.12:g.53429100=, XM_005268795.1:c.853-353G>A, XM_011538179.1:c.1027+90G>A, NG_015981.1:g.10246=, XM_011538173.1:c.1027+90G>A, XM_011538174.1:c.1024+90G>A, NM_020547.2:c.967+90G>A, XM_011538178.1:c.808+90G>A, XM_011538183.1:c.1027+90G>A, rs386613594, 784892, NM_001164690.1:c.967+90G>A, XM_005268788.1:c.634+90G>A, XM_011538181.1:c.691+90G>A, XM_011538176.1:c.970+90G>A, NG_015981.1:g.10246G>A, XM_011538175.1:c.1009+90G>A, XM_011538177.1:c.949+90G>A +PA166157789 rs7851395 PA118 SLC31A1 NC_000009.12:113240184 1 1 0 0 0 NC_000009.11:g.116002464A>G, NC_000009.12:g.113240184A>G, NC_000009.11:g.116002464=, NC_000009.12:g.113240184A>T, rs7851395, 7851395, NC_000009.12:g.113240184=, NM_001859.3:c.-35-15930A>G, NC_000009.11:g.116002464A>T +PA166181819 rs7851998 NC_000009.12:124066235 1 0 0 0 0 rs7851998, 7851998, NC_000009.12:g.124066235G>A, NC_000009.11:g.126828514=, NC_000009.11:g.126828514G>A, NC_000009.12:g.124066235= +PA166157790 rs7853758 PA426 SLC28A3 NC_000009.12:84286011 11 1 1 1 0 XM_011518908.1:c.742C>T, XM_011518907.1:c.1132C>T, NM_001199633.1:c.1381C>T, NM_022127.2:c.1381C>T, NC_000009.12:g.84286011=, rs59559753, NC_000009.12:g.84286011G>A, NP_001186562.1:p.Leu461=, 59559753, NC_000009.11:g.86900926G>A, XR_929832.1:n.1572C>T, NP_071410.1:p.Leu461=, XP_011517209.1:p.Leu378=, NR_037638.2:n.1703C>T, XR_930033.1:n.88-3031G>A, XM_011518906.1:c.1465C>T, rs7853758, 7853758, 59483082, XM_011518905.1:c.1465C>T, XP_011517208.1:p.Leu489=, rs59483082, NC_000009.11:g.86900926=, XP_011517207.1:p.Leu489=, XP_011517210.1:p.Leu248= +PA166184317 rs785423 PA36532 TJP1 NC_000015.10:29882173 1 1 0 0 0 NC_000015.10:g.29882173=, NC_000015.10:g.29882173A>C, NC_000015.9:g.30174376A>C, NC_000015.10:g.29882173A>G, 60647261, rs785423, 785423, NC_000015.9:g.30174376A>G, NC_000015.9:g.30174376=, 1719374, 17603144, 59845066 +PA166157791 rs7855716 PA38725 KCNT1 NC_000009.12:135725655 1 0 0 0 0 NC_000009.11:g.138617501G>T, XM_005263407.1:c.254+10935G>C, NM_020822.2:c.254+10935G>C, XM_011518878.1:c.389+10935G>C, XM_011518877.1:c.389+10935G>C, NG_033070.1:g.28471=, NM_001272003.1:c.110+23287G>C, NG_033070.1:g.28471G>C, NC_000009.12:g.135725655G>T, rs7855716, 7855716, NC_000009.11:g.138617501G>C, XM_011518879.1:c.389+10935G>C, NC_000009.12:g.135725655=, NC_000009.11:g.138617501=, NG_033070.1:g.28471G>T, NC_000009.12:g.135725655G>C +PA166157792 rs7856096 PA167 FPGS NC_000009.12:127804260 3 1 0 0 0 rs7856096, NM_001288803.1:c.139-25A>G, XR_242582.2:n.184-25A>G, 7856096, 57202884, XR_242582.1:n.165-25A>G, NR_110170.1:n.206-25A>G, NM_001018078.2:c.-12-25A>G, XM_011518437.1:c.-37A>G, NG_023245.1:g.6386A>G, XM_011518438.1:c.-12-25A>G, XR_242581.1:n.165-25A>G, XR_242581.2:n.184-25A>G, NC_000009.11:g.130566539A>G, NM_004957.5:c.139-25A>G, NC_000009.12:g.127804260=, NC_000009.12:g.127804260A>G, rs57202884, XM_005251864.1:c.139-25A>G, XM_005251863.1:c.139-25A>G, XM_005251865.1:c.-387A>G, XM_005251864.2:c.139-25A>G, NC_000009.11:g.130566539=, NG_023245.1:g.6386= +PA166176953 rs7858 PA31591 NFIB NC_000009.12:14087770 1 1 0 0 0 NC_000009.11:g.14087769=, 498273, rs7858, 60964563, 17196378, NC_000009.11:g.14087769C>T, NC_000009.12:g.14087770C>T, 7858, 3186992, NC_000009.12:g.14087770= +PA166254982 rs7858836 PA25076 ASTN2 NC_000009.12:117194009 1 1 0 0 0 NG_021409.2:g.226049=, NG_021409.2:g.226049A>G, NC_000009.12:g.117194009T>C, 56957071, NC_000009.12:g.117194009=, NC_000009.11:g.119956288=, 7858836, NC_000009.11:g.119956288T>C, rs7858836 +PA166177209 rs78615940 PA25504 ANO2 NC_000012.12:5917867 1 1 0 0 0 78615940, NC_000012.12:g.5917867=, NC_000012.11:g.6027033A>C, NC_000012.12:g.5917867A>C, rs78615940, NC_000012.11:g.6027033= +PA166157794 rs7862221 PA37034 TSC1 NC_000009.12:132906834 1 1 0 0 0 XM_011518979.1:c.1335A>G, NG_012386.1:g.42800=, NP_001155898.1:p.Glu444=, 7862221, rs7862221, NM_000368.4:c.1335A>G, NM_001162427.1:c.1182A>G, XP_011517281.1:p.Glu445=, NC_000009.11:g.135782221=, XP_006717335.1:p.Glu445=, NP_000359.1:p.Glu445=, XM_006717271.1:c.1335A>G, NC_000009.12:g.132906834=, NC_000009.11:g.135782221T>C, NM_001162426.1:c.1332A>G, NC_000009.12:g.132906834T>C, XP_005272269.1:p.Glu445=, XM_005272211.1:c.1335A>G, XM_005272212.1:c.1335A>G, XP_006717334.1:p.Glu445=, NG_012386.1:g.42800A>G, NP_001155899.1:p.Glu394=, XM_006717272.2:c.1335A>G, XP_005272268.1:p.Glu445= +PA166157519 rs78655421 PA109 CFTR NC_000007.14:117530975 8 1 1 1 3 XM_011515751.1:c.440G>C, XM_011515751.1:c.440G>A, XP_011514053.1:p.Arg147Pro, XP_011514054.1:p.Arg147His, XM_011515753.1:c.107G>T, NC_000007.14:g.117530975=, NC_000007.14:g.117530975G>T, NC_000007.13:g.117171029G>T, NP_000483.3:p.Arg117=, NP_000483.3:p.Arg117His, XM_011515754.1:c.107G>A, XP_011514053.1:p.Arg147Leu, XM_011515754.1:c.107G>C, NC_000007.13:g.117171029=, NM_000492.3:c.350G>A, XP_011514055.1:p.Arg36Leu, NC_000007.13:g.117171029G>A, NG_016465.3:g.70192G>T, 78655421, XP_011514056.1:p.Arg36Pro, NC_000007.13:g.117171029G>C, NG_016465.4:g.70192G>C, NG_016465.4:g.70192G>A, XM_011515752.1:c.440G>T, NP_000483.3:p.Arg117Pro, XM_011515754.1:c.107G>T, XP_011514053.1:p.Arg147His, rs78655421, NC_000007.14:g.117530975G>A, XP_011514055.1:p.Arg36Pro, NG_016465.4:g.70192=, NM_000492.3:c.350G>C, XM_011515752.1:c.440G>A, XP_011514056.1:p.Arg36Leu, NG_016465.4:g.70192G>T, XM_011515752.1:c.440G>C, XP_011514054.1:p.Arg147Pro, NG_016465.3:g.70192G>C, XM_011515751.1:c.440G>T, NP_000483.3:p.Arg117Leu, XP_011514056.1:p.Arg36His, XP_011514055.1:p.Arg36His, NC_000007.14:g.117530975G>C, NM_000492.3:c.350G>T, XM_011515753.1:c.107G>C, XM_011515753.1:c.107G>A, XP_011514054.1:p.Arg147Leu +PA166157795 rs7867504 PA426 SLC28A3 NC_000009.12:84305321 3 1 0 0 0 NC_000009.11:g.86920236T>G, XM_011518905.1:c.419-2932A>G, NC_000009.12:g.84305321=, NC_000009.12:g.84305321T>G, NM_001199633.1:c.267A>G, NC_000009.11:g.86920236T>A, NP_071410.1:p.Thr89=, rs386613708, NC_000009.11:g.86920236T>C, rs7867504, 7867504, NP_001186562.1:p.Thr89=, XM_011518907.1:c.86-2932A>G, XR_929832.1:n.546-2932A>G, XM_011518906.1:c.419-2932A>G, rs60110305, XM_011518910.1:c.419-2932A>G, XM_011518909.1:c.419-2932A>G, NR_037638.2:n.589A>G, NM_022127.2:c.267A>G, 60110305, NC_000009.12:g.84305321T>A, NC_000009.11:g.86920236=, NC_000009.12:g.84305321T>C, 386613708 +PA166159086 rs7870226 PA134891547 PDCD1LG2 NC_000009.12:5530017 1 0 0 0 0 NC_000009.12:g.5530017A>C, NC_000009.11:g.5530017A>G, 58581028, NC_000009.12:g.5530017A>G, NC_000009.11:g.5530017A>C, rs7870226, 7870226, NC_000009.12:g.5530017=, NC_000009.11:g.5530017= +PA166164955 rs78769542 PA109 CFTR NC_000007.14:117611650 1 1 0 1 2 NG_056128.2:g.4704G>A, NG_056128.2:g.4704G>C, rs78769542, NG_056128.1:g.4704=, NP_000483.3:p.Arg1070Gln, NC_000007.13:g.117251704G>C, NC_000007.14:g.117611650G>A, NC_000007.13:g.117251704G>A, NG_016465.4:g.150867=, NP_000483.3:p.Arg1070Pro, NC_000007.14:g.117611650G>C, NG_016465.4:g.150867G>A, 78769542, NC_000007.13:g.117251704=, NG_056128.2:g.4704=, NG_056128.1:g.4704G>C, NG_056128.1:g.4704G>A, NP_000483.3:p.Arg1070=, NC_000007.14:g.117611650=, NG_016465.4:g.150867G>C +PA166153558 rs7877 PA165 FMO1 NC_000001.11:171285751 2 2 0 0 0 NC_000001.11:g.171285751C>T, 3181904, XM_006711241.2:c.*207C>T, XM_005245038.2:c.*497C>T, 57922066, NC_000001.10:g.171254890=, XM_005245034.1:c.*207C>T, XM_005245035.1:c.*207C>T, XM_005245038.1:c.*497C>T, rs3181904, NC_000001.11:g.171285751=, XM_005245036.1:c.*207C>T, XM_005245037.1:c.*207C>T, NM_001282694.1:c.*207C>T, rs7877, NM_001282693.1:c.*207C>T, NC_000001.10:g.171254890C>T, rs2076321, 2076321, 7877, rs57922066, NM_001282692.1:c.*207C>T, NM_002021.2:c.*207C>T, XM_005245037.2:c.*207C>T +PA166176230 rs7896283 PA134992438,PA166176233 CAMK1D,MIR4481 NC_000010.11:12653178 1 0 0 0 0 NC_000010.10:g.12695177A>G, NC_000010.11:g.12653178A>G, NC_000010.10:g.12695177=, 61638348, NC_000010.11:g.12653178=, rs7896283, 7896283 +PA166180527 rs7899457 PA116 ABCC2 NC_000010.11:99845746 1 0 0 0 0 NC_000010.10:g.101605503C>T, 59655979, NP_000383.2:p.Leu1370=, NC_000010.11:g.99845746C>T, 17216289, 58883060, NC_000010.11:g.99845746=, rs7899457, 7899457, NG_011798.1:g.68041=, NC_000010.10:g.101605503=, NG_011798.2:g.68149=, NG_011798.1:g.68041C>T, NG_011798.2:g.68149C>T +PA166210024 rs7900002 NC_000010.11:71148194 1 1 0 0 0 NC_000010.10:g.72907951T>G, NC_000010.11:g.71148194T>C, NC_000010.11:g.71148194T>A, 7900002, 60372328, NC_000010.11:g.71148194=, NC_000010.10:g.72907951=, rs7900002, 56629024, NC_000010.10:g.72907951T>A, NC_000010.10:g.72907951T>C, NC_000010.11:g.71148194T>G +PA166154082 rs7900194 PA126 CYP2C9 NC_000010.11:94942309 25 5 5 0 0 NC_000010.11:g.94942309=, NG_008385.2:g.9152=, NG_008385.2:g.9152G>T, NG_008385.1:g.8652G>A, NM_000771.3:c.449G>A, NP_000762.2:p.Arg150=, NP_000762.2:p.Arg150His, NC_000010.11:g.94942309G>T, XM_005269575.1:c.449G>A, XP_005269632.1:p.Arg150His, NC_000010.10:g.96702066=, NC_000010.10:g.96702066G>A, NP_000762.2:p.Arg150Leu, 75838422, NC_000010.10:g.96702066G>C, NG_008385.1:g.8652G>C, NG_008385.1:g.8652=, rs7900194, rs57530584, 7900194, NC_000010.11:g.94942309G>A, NC_000010.10:g.96702066G>T, NP_000762.2:p.Arg150Pro, 57530584, NG_008385.1:g.8652G>T, NG_008385.2:g.9152G>C, NG_008385.2:g.9152G>A, NC_000010.11:g.94942309G>C +PA166154083 rs7902257 PA124 CYP2C19 NC_000010.11:94761665 2 0 0 0 0 NM_000769.2:c.-1041A>G, NM_000769.2:c.-1041G>A, NC_000010.11:g.94761665G>A, NG_008384.3:g.3985=, CYP2C19*27, 7902257, NC_000010.10:g.96521422A>G, 386613940, NG_055436.1:g.1025G>A, NG_008384.3:g.3985G>A, NC_000010.11:g.94761665=, CYP2C19*1.006, NG_008384.2:g.3960G=, rs386613940, rs7902257, NG_055436.1:g.1025=, NG_008384.2:g.3960G>A +PA166154084 rs7903146 PA36394 TCF7L2 NC_000010.11:112998590 12 2 0 0 0 XM_005270079.1:c.450+33966C>T, NG_054085.1:g.746=, NM_001198530.1:c.381+46983C>T, XM_005270086.1:c.382-41435C>T, XM_005270095.1:c.450+33966C>T, XM_011540110.1:c.382-41435C>T, NG_012631.1:g.53341=, XM_011540119.1:c.450+33966C>T, NM_001146283.1:c.382-41435C>T, NG_012631.1:g.53341C>G, NM_001198531.1:c.450+33966C>T, XM_005270091.2:c.450+33966C>T, 60693287, XM_005270088.1:c.382-41435C>T, XM_011540111.1:c.382-41435C>T, XM_005270078.1:c.450+33966C>T, XM_011540112.1:c.450+33966C>T, 7903146, rs7903146, NG_012631.1:g.53341C>T, NM_001146284.1:c.382-41435C>T, XM_005270087.1:c.382-41435C>T, XM_005270096.1:c.450+33966C>T, XM_005270085.1:c.450+33966C>T, rs60693287, XM_005270072.1:c.450+33966C>T, XM_005270093.1:c.450+33966C>T, XM_005270077.1:c.450+33966C>T, XM_011540117.1:c.450+33966C>T, XM_005270104.1:c.382-41435C>T, XM_005270080.1:c.382-41435C>T, NM_001146285.1:c.382-41435C>T, XM_011540114.1:c.450+33966C>T, NC_000010.10:g.114758349C>T, NM_001146274.1:c.450+33966C>T, XM_005270090.1:c.381+46983C>T, NM_001198525.1:c.382-41435C>T, XM_011540109.1:c.450+33966C>T, NM_001198528.1:c.382-41435C>T, XM_005270101.1:c.382-41435C>T, NC_000010.10:g.114758349C>G, XM_005270102.1:c.450+33966C>T, XM_011540115.1:c.450+33966C>T, XM_005270074.1:c.450+33966C>T, XM_005270091.1:c.450+33966C>T, XM_005270082.1:c.450+33966C>T, XM_005270092.1:c.450+33966C>T, NM_001198527.1:c.382-41435C>T, XM_005270075.1:c.450+33966C>T, NM_030756.4:c.382-41435C>T, XM_011540116.1:c.450+33966C>T, XM_005270083.1:c.450+33966C>T, NC_000010.11:g.112998590C>T, XM_005270089.1:c.382-41435C>T, XM_011540113.1:c.450+33966C>T, NG_054085.1:g.746C>G, XM_005270100.1:c.450+33966C>T, NC_000010.11:g.112998590=, XM_005270071.1:c.450+33966C>T, XM_006717956.2:c.-10+33966C>T, NM_001198526.1:c.382-41435C>T, XM_005270084.1:c.450+33966C>T, NC_000010.11:g.112998590C>G, XM_005270073.1:c.450+33966C>T, NG_054085.1:g.746C>T, XM_005270076.1:c.450+33966C>T, NC_000010.10:g.114758349=, NM_001146286.1:c.382-41435C>T, XM_005270094.1:c.450+33966C>T, XM_005270081.1:c.382-41435C>T, XM_005270103.1:c.382-41435C>T, NM_001198529.1:c.382-41435C>T, XM_011540118.1:c.450+33966C>T +PA166282001 rs7903366 NC_000010.11:51930014 1 0 0 0 0 NC_000010.11:g.51930014=, NC_000010.10:g.53689774=, 7903366, rs7903366, 56586732, NC_000010.11:g.51930014C>T, NG_029982.1:g.943864C>T, 61524892, NC_000010.10:g.53689774C>T, NG_029982.1:g.943864= +PA166273821 rs79048288 PA162381559 CCDC148 NC_000002.12:158414521 2 0 0 0 0 NC_000002.11:g.159271033C>T, NC_000002.12:g.158414521C>T, 79048288, rs79048288, NC_000002.12:g.158414521=, NC_000002.11:g.159271033= +PA166182096 rs7905446 PA29561,PA134876345 HTR7,RPP30 NC_000010.11:90859404 8 4 0 0 0 NC_000010.11:g.90859404=, NG_029218.1:g.3511A>C, NC_000010.10:g.92619161T>A, NG_029218.1:g.3511A>T, 59229871, NG_029218.1:g.3511=, NC_000010.10:g.92619161=, rs7905446, 7905446, NC_000010.11:g.90859404T>G, NC_000010.10:g.92619161T>G, NC_000010.11:g.90859404T>A +PA166155968 rs79085477 PA25384 BMP7 NC_000020.11:57126159 1 1 0 0 0 XR_936902.1:n.89+350G>A, 79085477, rs79085477, XR_936901.1:n.278+5836G>A, NC_000020.10:g.55701215C>T, XR_936904.1:n.278+5836G>A, NC_000020.11:g.57126159=, XR_936903.1:n.48+399G>A, NC_000020.10:g.55701215=, NC_000020.11:g.57126159C>T +PA166154085 rs7909236 PA125 CYP2C8 NC_000010.11:95069673 1 0 0 0 0 NG_055437.1:g.372=, NC_000010.10:g.96829430=, XR_945610.1:n.-175C>A, NM_000770.3:c.-271C>A, NM_001198853.1:c.-519C>A, 386613993, rs57610240, NM_001198855.1:c.-581C>A, NG_007972.1:g.4825=, 7909236, rs386613993, rs7909236, NC_000010.10:g.96829430G>T, NM_001198854.1:c.-452C>A, 57610240, NC_000010.11:g.95069673G>T, NG_055437.1:g.372G>T, XR_246073.1:n.-175C>A, NC_000010.11:g.95069673=, NG_007972.1:g.4825C>A +PA166154086 rs7910642 PA116 ABCC2 NC_000010.11:99781822 1 0 0 0 0 XM_006717631.2:c.-1023G>A, NG_011798.2:g.4225G>A, NC_000010.10:g.101541579G>A, rs17216114, NG_011798.1:g.4117G>A, NC_000010.11:g.99781822G>T, 17216114, NC_000010.10:g.101541579G>T, NG_011798.2:g.4225=, NG_011798.2:g.4225G>T, NC_000010.11:g.99781822G>A, XM_011539291.1:c.-1023G>A, XM_005269536.1:c.-1023G>A, rs7910642, 7910642, NC_000010.10:g.101541579=, NG_011798.1:g.4117G>T, XR_945605.1:n.-832G>A, NC_000010.11:g.99781822=, NM_000392.4:c.-1023G>A, NG_011798.1:g.4117=, XR_945604.1:n.-834G>A +PA166321781 rs7910936 PA125 CYP2C8 NC_000010.11:95044694 1 0 0 0 0 61416028, NC_000010.11:g.95044694=, NG_007972.1:g.29804G>A, NG_007972.1:g.29804=, NC_000010.11:g.95044694C>T, NC_000010.10:g.96804451C>T, NC_000010.10:g.96804451=, rs7910936, 7910936 +PA166154087 rs7911488 PA134968209,PA164722468 ATP5MK,MIR1307 NC_000010.11:103394332 1 0 0 0 0 NC_000010.10:g.105154089A>G, NM_001206426.1:c.-9-1866T>C, NM_001206427.1:c.-10+1414T>C, rs7911488, 7911488, NR_031707.1:n.70T>C, NC_000010.11:g.103394332=, NC_000010.11:g.103394332A>G, NM_032747.3:c.-143T>C, NC_000010.10:g.105154089= +PA166154088 rs7912580 NC_000010.11:62156213 2 2 0 0 0 NC_000010.10:g.63915972=, 57222647, NC_000010.11:g.62156213G>A, rs57222647, rs7912580, NC_000010.10:g.63915972G>A, 7912580, NC_000010.11:g.62156213= +PA166154090 rs7917432 PA116,PA134935922 ABCC2,RUFY2 NC_000010.11:68399112 1 1 0 0 0 NC_000010.11:g.68399112T>C, XM_005269954.1:c.297-2231A>G, XM_005269953.3:c.401+2508A>G, XM_005269960.1:c.401+2508A>G, XM_005269956.3:c.402-2231A>G, XM_005269956.1:c.402-2231A>G, XM_005269958.1:c.123-2231A>G, XM_005269953.1:c.401+2508A>G, NC_000010.10:g.70158869=, XM_006717911.2:c.297-2231A>G, 7917432, rs7917432, XR_246097.1:n.729-2231A>G, XR_945784.1:n.729-2231A>G, XM_005269959.1:c.402-2231A>G, XM_005269955.3:c.249-2231A>G, XM_005269951.1:c.444-2231A>G, XM_005269961.1:c.249-2231A>G, XM_005269957.1:c.296+2508A>G, XM_011539942.1:c.297-2231A>G, XM_005269952.1:c.402-2231A>G, XM_005269955.1:c.249-2231A>G, XM_005269957.3:c.296+2508A>G, NR_103476.1:n.402-2231A>G, NM_001042417.1:c.296+2508A>G, NM_017987.4:c.402-2231A>G, NM_001278225.1:c.123-2231A>G, XM_011539943.1:c.123-2231A>G, NC_000010.10:g.70158869T>C, NC_000010.11:g.68399112=, NR_103475.1:n.577-2231A>G +PA166154091 rs7917983 PA36394 TCF7L2 NC_000010.11:112973123 1 1 0 0 0 XM_005270080.1:c.381+21516T>C, NM_001146286.1:c.381+21516T>C, XM_005270093.1:c.450+8499T>C, XM_005270096.1:c.450+8499T>C, NG_012631.1:g.27874=, NM_001198526.1:c.381+21516T>C, NM_001198525.1:c.381+21516T>C, XM_005270083.1:c.450+8499T>C, 59955493, XM_005270081.1:c.381+21516T>C, NC_000010.11:g.112973123T>G, XM_005270089.1:c.381+21516T>C, XM_005270090.1:c.381+21516T>C, NC_000010.11:g.112973123T>C, XM_006717956.2:c.-10+8499T>C, XM_005270085.1:c.450+8499T>C, XM_005270073.1:c.450+8499T>C, NC_000010.11:g.112973123=, XM_011540110.1:c.381+21516T>C, NM_001146283.1:c.381+21516T>C, XM_005270076.1:c.450+8499T>C, XM_005270100.1:c.450+8499T>C, 10509968, XM_011540119.1:c.450+8499T>C, XM_005270088.1:c.381+21516T>C, rs7917983, XM_011540116.1:c.450+8499T>C, XM_011540113.1:c.450+8499T>C, NM_001198528.1:c.381+21516T>C, NM_001146285.1:c.381+21516T>C, XM_005270079.1:c.450+8499T>C, XM_005270082.1:c.450+8499T>C, XM_005270094.1:c.450+8499T>C, XM_005270091.1:c.450+8499T>C, XM_005270077.1:c.450+8499T>C, XM_005270104.1:c.381+21516T>C, NC_000010.10:g.114732882T>G, NC_000010.10:g.114732882=, NC_000010.10:g.114732882T>C, NM_001198530.1:c.381+21516T>C, XM_005270084.1:c.450+8499T>C, XM_005270086.1:c.381+21516T>C, XM_005270103.1:c.381+21516T>C, XM_005270095.1:c.450+8499T>C, NG_012631.1:g.27874T>C, NM_001198531.1:c.450+8499T>C, XM_005270102.1:c.450+8499T>C, XM_011540114.1:c.450+8499T>C, XM_005270091.2:c.450+8499T>C, XM_011540117.1:c.450+8499T>C, NM_001146274.1:c.450+8499T>C, NM_001198529.1:c.381+21516T>C, XM_005270071.1:c.450+8499T>C, XM_005270074.1:c.450+8499T>C, NM_030756.4:c.381+21516T>C, rs59955493, XM_005270087.1:c.381+21516T>C, XM_005270078.1:c.450+8499T>C, XM_005270092.1:c.450+8499T>C, 7917983, NG_012631.1:g.27874T>G, XM_005270075.1:c.450+8499T>C, XM_005270072.1:c.450+8499T>C, XM_011540115.1:c.450+8499T>C, XM_011540118.1:c.450+8499T>C, XM_011540111.1:c.381+21516T>C, XM_011540112.1:c.450+8499T>C, XM_005270101.1:c.381+21516T>C, rs10509968, XM_011540109.1:c.450+8499T>C, NM_001146284.1:c.381+21516T>C, NM_001198527.1:c.381+21516T>C +PA166160976 rs79206939 PA152208656 FTO NC_000016.10:53826140 1 1 0 0 0 NC_000016.10:g.53826140=, NC_000016.10:g.53826140G>A, NG_012969.1:g.127178G>A, NP_001073901.1:p.Ala134Thr, 79206939, NC_000016.9:g.53860052G>A, NP_001073901.1:p.Ala134=, rs79206939, NG_012969.1:g.127178=, NC_000016.9:g.53860052= +PA166154092 rs7921977 PA26091 CASP7 NC_000010.11:113679810 2 1 0 0 0 NM_033338.5:c.-177C>T, rs7921977, NP_001253986.1:p.Thr19Asn, NC_000010.11:g.113679810=, 7921977, NC_000010.11:g.113679810C>G, NC_000010.10:g.115439569C>G, NC_000010.11:g.113679810C>A, NC_000010.10:g.115439569C>A, NM_033340.3:c.-1+461C>T, XM_006718018.1:c.-8+461C>T, NP_001253986.1:p.Thr19=, NM_001267056.1:c.-1+461C>T, NP_001253986.1:p.Thr19Ser, NP_001253986.1:p.Thr19Ile, NM_001267057.1:c.56C>T, 56841072, rs386479493, NC_000010.10:g.115439569=, NM_001227.4:c.-169C>T, NM_033339.4:c.-243C>T, 386479493, rs56841072, NC_000010.10:g.115439569C>T, NC_000010.11:g.113679810C>T +PA166159108 rs7927570 NC_000011.10:87025483 1 0 0 0 0 7927570, rs7927570, NC_000011.9:g.86736525T>G, NG_021828.1:g.1000=, 56616751, NC_000011.9:g.86736525=, 61389203, NG_021828.1:g.1000T>G, NC_000011.10:g.87025483=, NC_000011.10:g.87025483T>G +PA166154425 rs7927894 PA134904392 EMSY NC_000011.10:76590272 1 0 0 0 0 59482530, NC_000011.10:g.76590272=, rs59482530, NC_000011.9:g.76301316=, 7927894, NC_000011.10:g.76590272C>T, 17749718, rs17749718, rs7927894, NC_000011.9:g.76301316C>T +PA166156199 rs79292917 PA128 CYP2D6 NC_000022.11:42127852 5 1 1 0 0 NC_000022.10:g.42523854=, NM_000106.5:c.975G>A, XP_011528273.1:p.Pro277=, XM_005278353.1:c.831G>A, NW_004504305.1:g.50179C>T, NC_000022.11:g.42127852C>T, XP_011547121.1:p.Pro225=, NP_000097.3:p.Pro325=, XP_011528271.1:p.Pro277=, XM_011547751.1:c.759G>A, XM_011529967.1:c.975G>A, XP_005278410.1:p.Pro277=, XM_005278354.3:c.675G>A, NG_008376.3:g.7140=, XP_005278411.1:p.Pro225=, NG_008376.4:g.7959=, NP_001020332.2:p.Pro274=, XM_011529966.1:c.975G>A, XP_011528272.1:p.Pro274=, NM_001025161.2:c.822G>A, XM_011529969.1:c.831G>A, NC_000022.11:g.42127852=, NG_008376.3:g.7140G>A, NT_187682.1:g.50193C>T, 79292917, NC_000022.10:g.42523854C>T, XM_011547750.1:c.831G>A, NW_009646208.1:g.13418C>T, XP_011528270.1:p.Pro325=, XP_011545843.1:p.Pro225=, XP_011528268.1:p.Pro325=, XP_011528269.1:p.Pro325=, rs79292917, XM_011529972.1:c.844-218G>A, XR_952745.1:n.2001-218G>A, XM_011548819.1:c.675G>A, XP_011546052.1:p.Pro277=, XM_011547541.1:c.675G>A, XM_011529968.1:c.975G>A, XM_005278354.1:c.675G>A, XP_011546053.1:p.Pro253=, NG_008376.4:g.7959G>A, XM_011529970.1:c.822G>A, XM_011529971.1:c.831G>A +PA166154426 rs7929521 NC_000011.10:20573237 1 0 0 0 0 NC_000011.9:g.20594783=, NC_000011.10:g.20573237G>A, NC_000011.10:g.20573237=, 61266007, rs61266007, XR_931105.1:n.-239C>T, rs7929521, 7929521, NC_000011.9:g.20594783G>A +PA166186011 rs79299226 PA304 SCN5A NC_000003.12:38550898 1 0 0 0 0 rs79299226, 79299226, NC_000003.11:g.38592389=, NC_000003.12:g.38550898A>G, NC_000003.11:g.38592389A>G, NG_008934.1:g.103775=, NP_000326.2:p.Leu1824=, NP_000326.2:p.Leu1824Pro, NC_000003.12:g.38550898=, NG_008934.1:g.103775T>C, 386508635 +PA166154427 rs7934165 PA31891 BDNF NC_000011.10:27710436 1 1 0 0 0 NC_000011.9:g.27731983G>A, NM_170732.4:c.-22+9910C>T, rs58934494, NC_000011.10:g.27710436G>A, NC_000011.9:g.27731983=, NM_001143806.1:c.-22+9993C>T, NG_011794.1:g.16623C>T, rs7934165, NM_001143807.1:c.-22+9075C>T, NG_011794.1:g.16623=, 7934165, NC_000011.10:g.27710436=, NM_170731.4:c.3+10976C>T, NM_001143805.1:c.-22+10208C>T, 58934494 +PA166282161 rs7937 NC_000019.10:40796801 1 0 0 0 0 3188349, rs7937, NC_000019.10:g.40796801C>T, NC_000019.9:g.41302706C>T, NC_000019.9:g.41302706=, 4018024, 17791668, 61557017, NC_000019.10:g.40796801=, NC_000019.10:g.40796801C>A, NC_000019.9:g.41302706C>A, 7937 +PA166159497 rs7937567 PA26958,PA134950929 CSNK2A3,GALNT18 NC_000011.10:11354027 1 1 0 0 0 7937567, NC_000011.9:g.11375574=, NC_000011.9:g.11375574G>A, NC_000011.10:g.11354027G>A, rs7937567, 386478047, NC_000011.10:g.11354027= +PA166154428 rs7940013 PA298 RRM1 NC_000011.10:4117074 1 0 0 0 0 NC_000011.10:g.4117074C>T, NM_001318064.1:c.360-1246C>T, NG_027992.2:g.27381C>A, XM_011520277.1:c.360-1246C>T, XM_011520279.1:c.-407+714C>T, NC_000011.10:g.4117074=, 61670155, XM_011520278.1:c.-17+714C>T, rs59381386, NM_001033.3:c.651-1246C>T, XM_005253058.1:c.408-1246C>T, NC_000011.9:g.4138304C>A, NG_027992.2:g.27381C>T, NM_001318065.1:c.-407+714C>T, NC_000011.10:g.4117074C>A, NC_000011.9:g.4138304C>T, rs61670155, NC_000011.9:g.4138304=, NG_027992.2:g.27381=, 7940013, rs7940013, 59381386, XM_005253059.1:c.360-1246C>T, NM_001033.4:c.651-1246C>T +PA166171051 rs79403677 PA162387378 FAM177A1 NC_000014.9:35069925 1 1 0 0 0 NG_054633.1:g.30019T>A, NC_000014.9:g.35069925T>G, NC_000014.8:g.35539131T>G, NG_054633.1:g.30019=, rs79403677, 79403677, NC_000014.8:g.35539131=, NC_000014.8:g.35539131T>A, NC_000014.9:g.35069925T>A, NC_000014.9:g.35069925=, NG_054633.1:g.30019T>G +PA166165266 rs79419059 PA134890486 NUP107 NC_000012.12:68742472 1 0 0 0 0 NC_000012.12:g.68742472T>C, rs79419059, 79419059, NC_000012.12:g.68742472=, NG_046600.2:g.60522T>C, NC_000012.11:g.69136252T>C, NG_046600.2:g.60522=, NC_000012.11:g.69136252= +PA166178411 rs79430272 PA134877725 MAST3 NC_000019.10:18132742 1 1 0 0 0 NC_000019.10:g.18132742=, NC_000019.9:g.18243552C>T, NC_000019.9:g.18243552=, rs79430272, 79430272, NC_000019.10:g.18132742C>T +PA166179868 rs7943062 PA29556 HTR3B NC_000011.10:113946564 2 0 0 0 0 NG_011483.1:g.46698G>A, NG_011483.1:g.46698=, 7943062, NC_000011.10:g.113946564=, NC_000011.9:g.113817286=, rs7943062, 52826631, NC_000011.10:g.113946564G>A, 59820733, NC_000011.9:g.113817286G>A +PA166154429 rs7945189 PA30867,PA30868 MMP1,MMP10 NC_000011.10:102789833 1 0 0 0 0 NR_038390.1:n.390-3312C>T, 59202656, rs59202656, NC_000011.9:g.102660564=, NG_011740.2:g.13403=, rs17879145, NC_000011.10:g.102789833C>T, NM_001145938.1:c.*579G>A, 386614267, rs386614267, NM_002421.3:c.*579G>A, XM_005271555.1:c.*579G>A, NG_011740.1:g.13403=, NG_011740.1:g.13403G>A, NC_000011.10:g.102789833=, NG_011740.2:g.13403G>A, NC_000011.9:g.102660564C>T, rs7945189, 7945189, 17879145 +PA166155154 rs7946 PA33175 PEMT NC_000017.11:17506246 1 0 0 0 0 57409990, NM_148172.2:c.634G>A, XM_006721418.2:c.571G>A, NC_000017.10:g.17409560C>T, XM_005256410.1:c.301G>A, rs7946, rs57409990, rs1128207, XP_006721481.2:p.Val191Met, 1128207, NP_009100.2:p.Val175Met, 11554364, NM_007169.2:c.523G>A, rs1918248, 1918248, NP_680477.1:p.Val212=, NM_148173.1:c.523G>A, NC_000017.10:g.17409560=, rs11554364, NC_000017.11:g.17506246C>T, NM_001267552.1:c.665G>A, XP_005256467.1:p.Val101Met, NC_000017.11:g.17506246=, NM_001267551.1:c.568G>A, NP_001254481.1:p.Ser222Asn, NP_680477.1:p.Val212Met, NP_001254480.1:p.Val190Met, NP_680478.1:p.Val175Met, 7946, rs3184881, 3184881 +PA166160451 rs7950311 PA38109 TRIM5 NC_000011.10:5651124 1 0 0 0 0 NC_000011.9:g.5672354C>T, rs7950311, NC_000011.10:g.5651124C>T, 7950311, 17382644, NC_000011.10:g.5651124=, NC_000011.9:g.5672354= +PA166154430 rs7952081 PA29028 GSTP1 NC_000011.10:67557462 1 0 0 0 0 NC_000011.9:g.67324933=, rs7952081, rs56809733, 7952081, NC_000011.10:g.67557462G>A, 56809733, NC_000011.9:g.67324933G>T, NC_000011.10:g.67557462=, NC_000011.10:g.67557462G>T, NC_000011.9:g.67324933G>A +PA166182407 rs795484 PA134975064 TAOK3 NC_000012.12:118152057 3 3 0 0 0 NC_000012.11:g.118589862T>C, NG_051835.1:g.225889A>T, NC_000012.12:g.118152057=, 795484, 1726399, NG_051835.1:g.225889A>G, 57158689, NC_000012.11:g.118589862=, NG_051835.1:g.225889=, rs795484, NC_000012.12:g.118152057T>C, NC_000012.12:g.118152057T>A, NC_000012.11:g.118589862T>A, 1011805, 16948157 +PA166160694 rs7958375 PA162382977 CUX2 NC_000012.12:111202213 1 1 0 0 0 NG_023039.1:g.173190G>A, NG_023039.2:g.173190G>A, NC_000012.12:g.111202213=, NG_023039.2:g.173190=, NC_000012.12:g.111202213G>A, NC_000012.11:g.111640017=, rs7958375, NG_023039.1:g.173190=, 7958375, NC_000012.11:g.111640017G>A +PA166154606 rs7958904 PA162391575 HOTAIR NC_000012.12:53963768 1 1 0 0 0 NC_000012.11:g.54357552C>G, NR_047517.1:n.908G>C, NC_000012.12:g.53963768C>A, NC_000012.11:g.54357552=, 59019285, NC_000012.11:g.54357552C>T, NC_000012.12:g.53963768C>G, NR_047518.1:n.877G>C, NC_000012.12:g.53963768=, rs59019285, rs7958904, 7958904, NC_000012.12:g.53963768C>T, NC_000012.11:g.54357552C>A, NR_003716.3:n.902G>C +PA166171040 rs7959663 PA31404 MYO1H NC_000012.12:109446562 1 1 0 0 0 NC_000012.11:g.109884367G>C, NC_000012.12:g.109446562G>A, NC_000012.12:g.109446562G>C, NC_000012.12:g.109446562=, rs7959663, 7959663, NC_000012.11:g.109884367=, NC_000012.11:g.109884367G>A +PA166183372 rs7963521 NC_000012.12:73435176 1 0 0 0 0 NC_000012.11:g.73828956C>T, NC_000012.11:g.73828956=, rs7963521, NC_000012.12:g.73435176C>T, NC_000012.12:g.73435176=, 7963521, 59673369 +PA166178072 rs79635528 PA109 CFTR NC_000007.14:117611695 1 0 0 0 0 NG_016465.4:g.150912=, NP_000483.3:p.His1085=, NC_000007.13:g.117251749A>C, NG_016465.4:g.150912A>C, rs79635528, NG_056128.2:g.4749A>C, NC_000007.13:g.117251749A>G, NG_016465.4:g.150912A>G, NP_000483.3:p.His1085Pro, NG_056128.1:g.4749A>C, NG_056128.1:g.4749=, NP_000483.3:p.His1085Arg, 79635528, NC_000007.13:g.117251749=, NG_056128.2:g.4749=, NG_056128.1:g.4749A>G, NC_000007.14:g.117611695A>G, NC_000007.14:g.117611695=, NG_056128.2:g.4749A>G, NC_000007.14:g.117611695A>C +PA166156021 rs79663003 NC_000021.9:18938575 1 1 0 0 0 NC_000021.8:g.20310893T>C, NC_000021.8:g.20310893=, NC_000021.9:g.18938575T>C, 79663003, NC_000021.9:g.18938575=, rs79663003 +PA166182338 rs79663562 PA31427 MYT1L NC_000002.12:2269048 1 1 0 0 0 NG_051313.1:g.67341A>T, NC_000002.11:g.2272820T>A, NC_000002.11:g.2272820=, NC_000002.12:g.2269048=, NC_000002.11:g.2272820T>C, NG_051313.1:g.67341=, 79663562, rs79663562, NC_000002.12:g.2269048T>C, NG_051313.1:g.67341A>G, NC_000002.12:g.2269048T>A +PA166236261 rs7967354 PA328 SLCO1A2 NC_000012.12:21271069 1 1 0 0 0 rs7967354, 7967354, NC_000012.12:g.21271069=, NC_000012.12:g.21271069T>C, NC_000012.11:g.21424003=, NC_000012.11:g.21424003T>C, 57651430 +PA166163521 rs7968606 PA128394692 ANKS1B NC_000012.12:99423064 1 1 0 0 0 NG_029860.1:g.566591=, NG_029860.2:g.566591=, NC_000012.11:g.99816842=, NG_029860.2:g.566591G>A, 56621676, 60781268, NC_000012.11:g.99816842C>T, 7968606, NC_000012.12:g.99423064=, NG_029860.1:g.566591G>A, rs7968606, 59459134, NC_000012.12:g.99423064C>T +PA166179249 rs797044887 PA33148 PDGFRB NC_000005.10:150124277 1 0 0 0 0 NG_023367.1:g.36583A>C, NP_002600.1:p.Asn666=, NG_023367.1:g.36583=, NP_002600.1:p.Asn666His, NC_000005.10:g.150124277T>G, 797044887, NC_000005.9:g.149503840=, rs797044887, NC_000005.10:g.150124277=, NC_000005.9:g.149503840T>G +PA166154764 rs7972 PA29031,PA134980627 GSTZ1,POMT2 NC_000014.9:77326894 2 0 0 0 0 2266617, NC_000014.8:g.77793237=, rs11551317, rs2266617, rs52835763, rs7972, NP_665877.1:p.Gly42=, NM_001513.3:c.-42G>A, XP_005267615.1:p.Gly43Arg, NM_145870.2:c.124G>A, XP_005267614.1:p.Gly43Arg, rs17750846, NM_001312660.1:c.-42G>A, XP_011534973.1:p.Gly43Arg, 11551317, XM_005267559.2:c.-42G>A, 58270987, 1128968, NP_665878.2:p.Gly42Arg, rs1128968, rs3177429, 3177429, NP_665877.1:p.Gly42Arg, XM_005267557.1:c.127G>A, 17750846, 7972, NC_000014.8:g.77793237G>A, rs17353483, rs58270987, XM_011536670.1:c.-353G>A, NM_145871.2:c.124G>A, XM_005267558.1:c.127G>A, NC_000014.9:g.77326894G>A, XM_011536671.1:c.127G>A, NC_000014.9:g.77326894=, rs3186383, 3186383, 52835763, 17353483, XM_005267559.1:c.-42G>A +PA166154607 rs7973796 PA33435 PMCH NC_000012.12:102202345 1 1 0 0 0 17421550, rs17421550, NC_000012.12:g.102202345G>A, NC_000012.11:g.102596123G>A, NC_000012.11:g.102596123=, 7973796, NC_000012.12:g.102202345=, rs7973796 +PA166206021 rs797397 PA31942 OPRD1 NC_000001.11:28824671 2 1 0 0 0 NC_000001.10:g.29151183G>A, 52809955, 61203994, rs797397, 386614439, NC_000001.10:g.29151183=, 797397, NC_000001.11:g.28824671G>A, NC_000001.11:g.28824671= +PA166154765 rs7975 PA29031,PA134980627 GSTZ1,POMT2 NC_000014.9:77326864 2 0 0 0 0 NM_145871.2:c.94G>A, NC_000014.8:g.77793207=, rs11551318, NP_665877.1:p.Glu32=, rs1128961, 1128961, NC_000014.9:g.77326864G>C, XM_005267559.1:c.-72G>A, rs17341724, NC_000014.9:g.77326864G>A, XM_005267559.2:c.-72G>A, XM_005267557.1:c.97G>A, 11551318, 17349480, NP_665877.1:p.Glu32Lys, 117666974, rs3186373, 7975, NC_000014.9:g.77326864G>T, rs17349480, 3186373, XM_011536670.1:c.-383G>A, XP_005267614.1:p.Glu33Lys, NC_000014.8:g.77793207G>C, XP_005267615.1:p.Glu33Lys, 2254057, NC_000014.8:g.77793207G>A, rs2254057, NM_001513.3:c.-72G>A, rs117666974, NP_665878.2:p.Glu32Lys, NM_145870.2:c.94G>A, 17341724, rs3177427, XP_011534973.1:p.Glu33Lys, 3177427, NC_000014.8:g.77793207G>T, XM_011536671.1:c.97G>A, rs58628317, XM_005267558.1:c.97G>A, NP_665877.1:p.Glu32Gln, rs7975, NC_000014.9:g.77326864=, 58628317, NM_001312660.1:c.-72G>A, NP_665877.1:p.Glu32Ter +PA166154685 rs797519 PA142671974 DLEU7 NC_000013.11:50656996 1 0 0 0 0 NC_000013.11:g.50656996G>C, 56597284, NC_000013.10:g.51231132G>C, rs56901934, rs797519, rs12864741, rs1641298, 1641298, 12864741, NC_000013.10:g.51231132=, 56901934, NC_000013.10:g.51231132G>T, rs56597284, NC_000013.11:g.50656996G>T, NC_000013.11:g.50656996=, 797519 +PA166154608 rs7975232 PA37301 VDR NC_000012.12:47845054 5 0 0 0 0 17879735, NC_000012.11:g.48238837C>A, NM_001017536.1:c.1175-49G>T, NM_001017535.1:c.1025-49G>T, XR_944903.1:n.-1761C>A, rs7975232, 7975232, NC_000012.12:g.47845054=, NG_008731.1:g.64978G>T, XM_011538720.1:c.1025-49G>T, rs17879735, NC_000012.12:g.47845054C>A, NM_000376.2:c.1025-49G>T, XM_006719587.2:c.1025-49G>T, NC_000012.11:g.48238837=, NG_008731.1:g.64978= +PA166154609 rs7977213 PA35844 SLCO1B3 NC_000012.12:20827866 1 0 0 0 0 NC_000012.11:g.20980800=, NC_000012.11:g.20980800G>C, NM_019844.3:c.84+12044G>C, 7977213, NG_032071.1:g.22163G>A, rs58558915, 11502664, NG_032071.1:g.22163G>C, rs7977213, NC_000012.12:g.20827866G>C, NC_000012.12:g.20827866G>A, NC_000012.11:g.20980800G>A, NG_032071.1:g.22163=, rs11502664, 58558915, NC_000012.12:g.20827866=, XM_005253347.1:c.84+12044G>C +PA166154722 rs7984870 PA36619 TNFSF11 NC_000013.11:42572346 2 1 0 0 0 NC_000013.10:g.43146482=, NG_008990.1:g.14611G>C, NC_000013.11:g.42572346G>C, rs17458239, NM_003701.3:c.-1958G>C, NM_033012.3:c.-1+608G>C, 57905389, rs57905389, NC_000013.10:g.43146482G>C, 17458239, NC_000013.11:g.42572346=, rs7984870, 7984870, NG_008990.1:g.14611= +PA166157222 rs79901429 PA356 TPMT NC_000006.12:18132147 1 0 0 0 0 79901429, NP_000358.1:p.Ile204=, XM_011514840.1:c.542T>C, XM_011514839.1:c.581-1367T>C, NC_000006.12:g.18132147A>G, XP_011513142.1:p.Ile181Thr, NC_000006.12:g.18132147=, rs79901429, NC_000006.11:g.18132378A>G, NC_000006.11:g.18132378=, NP_000358.1:p.Ile204Thr, NG_012137.2:g.27997=, NM_000367.3:c.611T>C, NG_012137.2:g.27997T>C +PA166231401 rs79910351 PA31945 OPRM1 NC_000006.12:154090076 1 2 0 0 0 NC_000006.12:g.154090076C>T, NG_021208.2:g.84576=, 79910351, NC_000006.11:g.154411211C>T, rs79910351, NC_000006.12:g.154090076=, NC_000006.11:g.154411211=, NG_021208.2:g.84576C>T, NP_000905.3:p.Arg181=, NP_000905.3:p.Arg181Cys +PA166154723 rs7992226 PA162396840 NALCN NC_000013.11:101145489 1 1 0 0 0 rs57809036, NM_052867.2:c.1840-593T>C, XM_011521070.1:c.1897-20808T>C, rs17582066, NC_000013.11:g.101145489=, 17582066, rs7992226, 7992226, NC_000013.10:g.101797840A>G, NC_000013.11:g.101145489A>G, NC_000013.10:g.101797840=, XM_005254037.1:c.1840-593T>C, XM_011521067.1:c.1897-593T>C, NG_053176.1:g.276718=, NG_053176.1:g.276718T>C, 57809036, XM_011521068.1:c.1840-593T>C, XM_011521069.1:c.1810-593T>C +PA166154724 rs7993418 PA28180 FLT1 NC_000013.11:28308924 5 0 0 0 0 NG_012003.1:g.191205C>T, NM_002019.4:c.3639C>T, NP_002010.2:p.Tyr1213=, NC_000013.11:g.28308924=, NC_000013.11:g.28308924G>A, NG_012003.1:g.191205=, 57281829, rs7993418, 7993418, NC_000013.10:g.28883061G>A, NC_000013.10:g.28883061=, 117224149, rs117224149, rs57281829 +PA166154725 rs7995976 PA28180 FLT1 NC_000013.11:28366923 1 0 0 0 0 NC_000013.11:g.28366923=, NC_000013.10:g.28941060=, 7995976, rs7995976, NM_002019.4:c.2117-9238T>G, 61179897, NC_000013.10:g.28941060A>C, rs9513092, 9513092, NG_012003.1:g.133206=, NC_000013.11:g.28366923A>C, NG_012003.1:g.133206T>G, rs61179897 +PA166154726 rs7997012 PA193 HTR2A NC_000013.11:46837850 32 8 0 0 0 NC_000013.10:g.47411985=, NG_013011.1:g.64185T>A, NG_013011.1:g.64185T>C, 7997012, NG_013011.1:g.64185T>G, rs7997012, NC_000013.10:g.47411985A>T, NC_000013.11:g.46837850A>C, NM_001165947.2:c.362-2211T>C, NC_000013.11:g.46837850=, NG_013011.1:g.64185=, NC_000013.11:g.46837850A>G, 60567994, NM_000621.4:c.614-2211T>C, rs60567994, NC_000013.11:g.46837850A>T, NC_000013.10:g.47411985A>C, NC_000013.10:g.47411985A>G +PA166195564 rs79983226 PA77 HCN1 NC_000005.10:45595553 1 1 0 0 0 79983226, rs79983226, NC_000005.10:g.45595553=, NG_042183.1:g.105566=, NC_000005.9:g.45595655=, NC_000005.9:g.45595655G>C, NG_042183.1:g.105566C>G, NC_000005.10:g.45595553G>C +PA166155167 rs799917 PA25411 BRCA1 NC_000017.11:43092919 1 0 0 0 0 56917575, NR_027676.1:n.2748C>T, NC_000017.10:g.41244936G>A, rs52820477, NP_009231.2:p.Pro871Arg, AAA73985.1:p.Pro871Arg, NR_027676.1:n.2748C>A, NP_009225.1:p.Pro871Leu, NR_027676.1:n.2748C>G, NP_009231.2:p.Pro871=, NM_007299.3:c.787+1825C>G, NP_009228.2:p.Pro824Arg, NC_000017.10:g.41244936G>T, NM_007294.3:c.2612C>G, NM_007297.3:c.2471C>G, U14680.1:c.2612C>G, U14680.1:c.2612C>A, NM_007299.3:c.787+1825C>A, 117507515, NM_007294.3:c.2612C>A, NM_007297.3:c.2471C>A, 799917, NC_000017.10:g.41244936G>C, NM_007297.3:c.2471C>T, NM_007299.3:c.787+1825C>T, NM_007300.3:c.2612C>A, NC_000017.10:g.41244936=, rs56917575, 52820477, NG_005905.2:g.125065C>G, NM_007294.3:c.2612C>T, NP_009231.2:p.Pro871Leu, rs386614652, NP_009228.2:p.Pro824Gln, U14680.1:c.2612C>T, NP_009225.1:p.Pro871Arg, AAA73985.1:p.Pro871Leu, NC_000017.11:g.43092919G>T, NG_005905.2:g.125065=, NG_005905.2:g.125065C>T, rs799917, NP_009231.2:p.Pro871Gln, NC_000017.11:g.43092919G>A, AAA73985.1:p.Pro871Gln, NC_000017.11:g.43092919G>C, NP_009228.2:p.Pro824Leu, NP_009225.1:p.Pro871Gln, NM_007298.3:c.787+1825C>T, NM_007300.3:c.2612C>T, 386614652, NG_005905.2:g.125065C>A, NM_007298.3:c.787+1825C>G, NC_000017.11:g.43092919=, rs117507515, NM_007298.3:c.787+1825C>A, NM_007300.3:c.2612C>G +PA166154727 rs7999812 PA73 ATP7B NC_000013.11:51971359 1 0 0 0 0 XM_005266427.2:c.1286-610T>G, XR_941603.1:n.1505-610T>G, XM_005266431.1:c.1250-610T>G, XM_005266432.1:c.1286-610T>G, XM_011535117.1:c.1190-610T>G, XM_005266430.1:c.1286-610T>G, NG_008806.1:g.45136=, NC_000013.11:g.51971359=, XM_005266425.1:c.1286-610T>G, XM_005266428.1:c.1286-610T>G, NG_008806.1:g.45136T>G, NM_000053.3:c.1286-610T>G, XM_011535118.1:c.1286-610T>G, XR_941604.1:n.1505-610T>G, NC_000013.11:g.51971359A>C, XM_005266423.1:c.1190-610T>G, XM_011535121.1:c.1286-610T>G, XR_941601.1:n.1505-610T>G, NM_001243182.1:c.953-610T>G, XR_245388.1:n.1505-610T>G, XM_005266431.2:c.1250-610T>G, XM_005266432.2:c.1286-610T>G, XM_011535122.1:c.-47-610T>G, NM_001005918.2:c.1286-610T>G, XM_005266430.3:c.1286-610T>G, XM_006719837.2:c.1190-610T>G, XM_005266427.1:c.1286-610T>G, rs7999812, 7999812, XM_011535120.1:c.1286-610T>G, XM_005266433.1:c.1285+2576T>G, XR_941602.1:n.1505-610T>G, XM_005266429.1:c.1286-610T>G, XM_005266424.1:c.1190-610T>G, XM_011535119.1:c.1286-610T>G, NC_000013.10:g.52545495=, XM_005266424.3:c.1190-610T>G, NC_000013.10:g.52545495A>C, XM_005266423.2:c.1190-610T>G, XM_005266426.1:c.1286-610T>G, XM_005266434.1:c.-877T>G +PA166154728 rs7999876 NC_000013.11:86018689 1 0 0 0 0 NC_000013.10:g.86592824=, NC_000013.11:g.86018689G>A, NC_000013.11:g.86018689=, rs7999876, NC_000013.10:g.86592824G>A, 7999876 +PA166154729 rs8001466 PA323 SLC15A1 NC_000013.11:98703347 1 0 0 0 0 NG_017032.1:g.54329C>G, NG_017032.1:g.54329=, NC_000013.10:g.99355601G>C, NM_005073.3:c.1417-818C>G, NC_000013.11:g.98703347G>C, 8001466, NC_000013.11:g.98703347=, rs8001466, NC_000013.10:g.99355601= +PA166153588 rs800292 PA29261 CFH NC_000001.11:196673103 2 1 0 0 0 386614680, 56426712, XM_005245111.1:c.184G>A, NM_000186.3:c.184G>A, NM_001014975.2:c.184G>A, 800292, NC_000001.11:g.196673103G>A, NG_007259.1:g.26093=, NC_000001.11:g.196673103=, rs52795952, rs60919873, 117675270, NP_001014975.1:p.Val62Ile, rs800292, NG_007259.1:g.26093G>A, rs117675270, rs1292481, 52795952, 1292481, 60919873, rs1738751, NP_000177.2:p.Val62Ile, rs56426712, XM_005245112.1:c.184G>A, XP_005245168.1:p.Val62Ile, XP_005245169.1:p.Val62Ile, NC_000001.10:g.196642233G>A, 1738751, NC_000001.10:g.196642233=, rs386614680, NP_000177.2:p.Val62= +PA166162695 rs80034486 PA109 CFTR NC_000007.14:117652877 9 1 0 0 0 rs80034486, CFTR: N1303K, 80034486, NC_000007.14:g.117652877=, NG_016465.4:g.192094=, NP_000483.3:p.Asn1303=, NC_000007.13:g.117292931C>G, NC_000007.14:g.117652877C>G, NC_000007.13:g.117292931=, NG_016465.4:g.192094C>G, CFTR p.Asn1303Lys, NP_000483.3:p.Asn1303Lys +PA166162704 rs80055610 PA109 CFTR NC_000007.14:117587833 1 0 0 0 0 NP_000483.3:p.Arg560=, NP_000483.3:p.Arg560Thr, 80055610, NG_016465.4:g.127050G>C, NG_056131.3:g.788=, NG_016465.4:g.127050=, NG_056131.1:g.157G>A, NG_056131.1:g.157G>C, NC_000007.13:g.117227887=, NC_000007.14:g.117587833=, rs80055610, NG_056131.1:g.157=, NG_016465.4:g.127050G>A, NG_056131.3:g.788G>A, NC_000007.13:g.117227887G>C, NP_000483.3:p.Arg560Lys, NC_000007.13:g.117227887G>A, NC_000007.14:g.117587833G>A, NC_000007.14:g.117587833G>C, NG_056131.3:g.788G>C +PA166210045 rs8008020 NC_000014.9:103889546 1 1 0 0 0 NC_000014.9:g.103889546=, NC_000014.8:g.104355883=, 17719053, NC_000014.9:g.103889546T>A, NC_000014.8:g.104355883T>G, NC_000014.8:g.104355883T>A, rs8008020, 8008020, 59688570, NC_000014.9:g.103889546T>C, NC_000014.8:g.104355883T>C, NC_000014.9:g.103889546T>G +PA166153914 rs80081766 PA145 DPYD NC_000001.11:97883352 1 0 0 1 0 386508633, XM_005270561.1:c.39+37532G>A, XP_005270619.2:p.Arg21Gln, NG_008807.2:g.42708G>A, XM_005270564.1:c.62G>A, rs80081766, XM_005270562.3:c.62G>A, NC_000001.11:g.97883352C>T, XM_005270562.1:c.62G>A, NP_000101.2:p.Arg21=, NM_000110.3:c.62G>A, NC_000001.11:g.97883352=, NP_000101.2:p.Arg21Gln, NM_001160301.1:c.62G>A, 80081766, NC_000001.10:g.98348908=, NG_008807.2:g.42708=, rs386508633, NP_001153773.1:p.Arg21Gln, XP_005270620.1:p.Arg21Gln, XP_005270621.1:p.Arg21Gln, XM_005270563.1:c.62G>A, NC_000001.10:g.98348908C>T, XM_006710397.2:c.62G>A, XP_006710460.1:p.Arg21Gln, XP_005270619.1:p.Arg21Gln +PA166154814 rs8012552 PA80 BDKRB2 NC_000014.9:96222430 1 1 0 0 0 60417872, rs8012552, NC_000014.9:g.96222430C>G, XM_005267980.1:c.-2807-14639C>T, NC_000014.8:g.96688767=, NC_000014.8:g.96688767C>T, NC_000014.9:g.96222430=, rs60417872, NM_000623.3:c.-34-14644C>T, XM_005267979.1:c.-39-14639C>T, 8012552, NC_000014.9:g.96222430C>T, NC_000014.8:g.96688767C>G, XM_005267981.1:c.-281-14644C>T +PA166154815 rs8014194 PA134945356 CLMN NC_000014.9:95254341 1 0 0 0 0 rs8014194, XR_429332.2:n.195-24208A>T, 8014194, NC_000014.8:g.95720678=, XM_011537159.1:c.83-24208A>T, XR_245721.2:n.195-24208A>T, XR_245722.1:n.195-24208A>T, XM_005268065.1:c.83-24208A>T, rs57153875, NM_024734.3:c.83-24208A>T, XR_429330.2:n.195-24208A>T, NC_000014.8:g.95720678T>A, NC_000014.9:g.95254341=, XM_005268064.1:c.83-24208A>T, XR_245721.1:n.195-24208A>T, NC_000014.9:g.95254341T>A, 57153875, XM_011537158.1:c.83-24208A>T +PA166156697 rs80143932 PA137 DCK NC_000004.12:70993476 2 1 0 0 0 NG_023303.1:g.4929C>G, NC_000004.11:g.71859193C>G, NC_000004.12:g.70993476C>G, NM_000788.2:c.-360C>G, NG_023303.1:g.4929C>A, NC_000004.11:g.71859193C>T, NC_000004.12:g.70993476=, rs80143932, NC_000004.11:g.71859193=, NG_023303.1:g.4929=, NG_023303.1:g.4929C>T, NC_000004.12:g.70993476C>A, NC_000004.12:g.70993476C>T, NC_000004.11:g.71859193C>A, 80143932 +PA166154816 rs8016905 PA80 BDKRB2 NC_000014.9:96209596 1 1 0 0 0 XM_005267981.1:c.-282+4637A>G, NC_000014.9:g.96209596A>G, NC_000014.8:g.96675933A>T, NC_000014.9:g.96209596A>C, rs60622792, 8016905, NC_000014.9:g.96209596=, NC_000014.8:g.96675933=, NM_000623.3:c.-35+4637A>G, rs8016905, XM_005267979.1:c.-40+4637A>G, XM_005267980.1:c.-2808+4637A>G, NC_000014.8:g.96675933A>G, 60622792, NC_000014.8:g.96675933A>C, NC_000014.9:g.96209596A>T +PA166154817 rs8017441 PA27886 ESR2 NC_000014.9:64249076 1 0 0 0 0 rs8017441, 8017441, NM_001291723.1:c.1225+470T>C, NC_000014.8:g.64715794A>G, NM_001040275.1:c.1225+470T>C, NR_073497.1:n.1193+470T>C, NG_011535.1:g.94475=, NM_001214903.1:c.1225+470T>C, NM_001271876.1:c.1225+470T>C, NC_000014.9:g.64249076A>G, NC_000014.9:g.64249076=, NM_001214902.1:c.1225+470T>C, NR_073496.1:n.1829+470T>C, XM_011536545.1:c.1225+470T>C, NG_011535.1:g.94475T>C, 60923277, 52802016, NR_073505.1:n.1968+470T>C, NC_000014.8:g.64715794=, XM_011536546.1:c.1225+470T>C, NM_001291712.1:c.1225+470T>C, rs52802016, rs60923277, NM_001271877.1:c.952+11373T>C, NM_001437.2:c.1225+470T>C +PA166154818 rs8020368 PA134931380 SYNE3 NC_000014.9:95477211 3 0 0 0 0 XM_005267376.3:c.176-1376A>G, XM_011536513.1:c.176-1376A>G, XM_011536515.1:c.11-1376A>G, XM_005267378.1:c.-14-1376A>G, 58836477, XM_005267379.1:c.-14-1376A>G, 59378010, XM_011536516.1:c.176-1376A>G, NC_000014.9:g.95477211T>C, rs58836477, NC_000014.9:g.95477211T>A, XM_005267377.2:c.-14-1376A>G, 56427699, XM_005267376.1:c.-14-1376A>G, rs59378010, NC_000014.8:g.95943548=, NM_152592.3:c.-1390A>G, XM_011536514.1:c.176-1376A>G, rs8020368, 8020368, XM_005267377.1:c.-14-1376A>G, rs56427699, NC_000014.8:g.95943548T>A, NC_000014.8:g.95943548T>C, XM_005267380.1:c.-14-1376A>G, NC_000014.9:g.95477211=, XM_006720063.2:c.-14-1376A>G +PA166153915 rs80223967 NC_000001.11:213770336 1 1 0 0 0 NC_000001.11:g.213770336A>G, NC_000001.11:g.213770336=, 80223967, NC_000001.10:g.213943679=, rs80223967, XR_922586.1:n.137-24048A>G, NC_000001.10:g.213943679A>G, XR_922587.1:n.136+38778A>G +PA166162698 rs80224560 PA109 CFTR NC_000007.14:117602868 1 1 0 0 2 NG_016465.4:g.142085=, NG_016465.4:g.142085G>A, NC_000007.13:g.117242922=, NC_000007.14:g.117602868G>A, NC_000007.14:g.117602868=, 80224560, NC_000007.13:g.117242922G>A, rs80224560 +PA166154923 rs8023369 NC_000015.10:58189995 1 0 0 0 0 rs8023369, NC_000015.10:g.58189995T>G, 8023369, 60715544, NC_000015.10:g.58189995=, NC_000015.9:g.58482194T>G, rs60715544, 52802624, NC_000015.9:g.58482194=, rs52802624 +PA166164893 rs8024695 PA33290,PA166181594 PIGB,PIGBOS1 NC_000015.10:55347107 2 0 0 0 0 58298964, 8024695, NC_000015.9:g.55639305=, rs8024695, NC_000015.10:g.55347107T>C, NC_000015.9:g.55639305T>C, NC_000015.10:g.55347107= +PA166154924 rs8027174 PA35837 SLCO3A1 NC_000015.10:91941607 1 0 0 0 0 XR_931795.1:n.736+25149G>T, NC_000015.9:g.92484837=, NM_013272.3:c.646+25149G>T, XM_011521456.1:c.472+25149G>T, XM_005254889.1:c.646+25149G>T, 8027174, XM_011521457.1:c.646+25149G>T, rs8027174, XM_005254890.1:c.472+25149G>T, XR_931796.1:n.736+25149G>T, XR_429450.2:n.566+25149G>T, NC_000015.10:g.91941607G>T, NC_000015.9:g.92484837G>T, 17518122, NM_001145044.1:c.646+25149G>T, NC_000015.10:g.91941607=, rs17518122, XM_005254891.1:c.301+25149G>T +PA166157521 rs80282562 PA109 CFTR NC_000007.14:117534318 2 1 1 1 4 rs80282562, NM_000492.3:c.532G>A, XP_011514053.1:p.Gly208Arg, NC_000007.14:g.117534318G>A, XM_011515753.1:c.289G>A, NG_016465.4:g.73535G>A, XM_011515752.1:c.622G>A, XP_011514054.1:p.Gly208Arg, NP_000483.3:p.Gly178Arg, NG_016465.4:g.73535=, NC_000007.13:g.117174372G>A, XM_011515754.1:c.289G>A, NC_000007.13:g.117174372=, XP_011514055.1:p.Gly97Arg, 80282562, NG_016465.3:g.73535G>A, NP_000483.3:p.Gly178=, XM_011515751.1:c.622G>A, XP_011514056.1:p.Gly97Arg, NC_000007.14:g.117534318= +PA166155266 rs80338792 PA35006 SCN4A NC_000017.11:63943846 3 1 0 0 0 XP_005257623.1:p.Gly1306Ala, NG_042788.1:g.26754=, NM_000334.4:c.3917G>T, NP_000325.4:p.Gly1306Val, NC_000017.11:g.63943846C>T, NC_000017.10:g.62021206=, NC_000017.11:g.63943846C>G, NG_011699.1:g.34073=, NM_000334.4:c.3917G>A, NC_000017.10:g.62021206C>A, NM_000334.4:c.3917G>C, NP_000325.4:p.Gly1306Ala, NC_000017.11:g.63943846=, NG_011699.1:g.34073G>T, NC_000017.11:g.63943846C>A, XM_005257566.1:c.3917G>C, XM_005257566.1:c.3917G>A, XP_005257623.1:p.Gly1306Glu, NG_042788.1:g.26754C>T, NG_011699.1:g.34073G>A, XM_005257566.3:c.3917G>T, NC_000017.10:g.62021206C>G, NG_011699.1:g.34073G>C, 80338792, NG_042788.1:g.26754C>A, XM_005257566.1:c.3917G>T, XP_005257623.1:p.Gly1306Val, XM_005257566.3:c.3917G>C, NC_000017.10:g.62021206C>T, NG_042788.1:g.26754C>G, NP_000325.4:p.Gly1306Glu, NP_000325.4:p.Gly1306=, rs80338792, XM_005257566.3:c.3917G>A +PA166154925 rs8034191 PA165478483 HYKK NC_000015.10:78513681 1 0 0 0 0 rs8034191, NM_001083612.1:c.337+256T>C, rs17485211, NC_000015.9:g.78806023T>C, NC_000015.10:g.78513681=, XM_011521231.1:c.337+256T>C, XR_243078.3:n.432+256T>C, 61065212, NM_001013619.2:c.337+256T>C, XR_243078.1:n.432+256T>C, NC_000015.10:g.78513681T>C, 8034191, NC_000015.9:g.78806023=, rs61065212, 17485211 +PA166177338 rs804280 PA28587 GATA4 NC_000008.11:11755189 1 0 0 0 0 NC_000008.10:g.11612698C>A, 804280, NG_008177.2:g.83271C>G, NG_008177.2:g.83271=, NC_000008.11:g.11755189C>A, NG_008177.2:g.83271C>A, NC_000008.10:g.11612698C>G, NC_000008.11:g.11755189=, NC_000008.11:g.11755189C>G, rs804280, NC_000008.10:g.11612698=, 57210523, NC_000008.10:g.11612698C>T, NC_000008.11:g.11755189C>T, 3729850, 56538482, NG_008177.2:g.83271C>T +PA166177336 rs804282 PA28587 GATA4 NC_000008.11:11754234 1 0 0 0 0 NC_000008.11:g.11754234G>C, NG_008177.2:g.82316=, 386615005, NC_000008.10:g.11611743=, NG_008177.2:g.82316G>T, NC_000008.10:g.11611743G>C, rs804282, NC_000008.11:g.11754234G>T, 60564536, NC_000008.11:g.11754234=, NG_008177.2:g.82316G>C, 804282, NC_000008.10:g.11611743G>T +PA166177334 rs804283 PA28587 GATA4 NC_000008.11:11753534 1 0 0 0 0 NC_000008.11:g.11753534=, 1497043, NC_000008.11:g.11753534G>C, NC_000008.10:g.11611043=, NC_000008.11:g.11753534G>A, NG_008177.2:g.81616G>C, 386615006, NG_008177.2:g.81616G>A, 60276173, rs804283, NG_008177.2:g.81616=, NC_000008.10:g.11611043G>C, 804283, NC_000008.10:g.11611043G>A +PA166177342 rs804290 PA142672368,PA28587 C8orf49,GATA4 NC_000008.11:11759327 1 0 0 0 0 rs804290, 804290, NC_000008.11:g.11759327=, NC_000008.10:g.11616836=, NG_008177.2:g.87409G>C, NG_008177.2:g.87409G>A, NC_000008.11:g.11759327G>A, NC_000008.10:g.11616836G>C, NC_000008.11:g.11759327G>C, NC_000008.10:g.11616836G>A, NG_008177.2:g.87409= +PA166155082 rs8049439 PA128394585,PA134870478,PA166123718 ATXN2L,IL27,NPIPB8 NC_000016.10:28826194 1 0 0 0 0 rs60750573, XM_005255063.1:c.466-46T>C, XM_005255068.1:c.466-46T>C, NC_000016.10:g.28826194=, XM_005255063.2:c.466-46T>C, XM_005255070.1:c.466-46T>C, XM_011545721.1:c.466-46T>C, XM_005255076.1:c.466-46T>C, XM_006721010.2:c.466-46T>C, NC_000016.9:g.28837515=, XM_006721009.1:c.466-46T>C, XM_005255064.1:c.466-46T>C, rs56444343, XM_005255075.1:c.466-46T>C, NC_000016.10:g.28826194T>A, XM_005255071.1:c.466-46T>C, XM_005255069.1:c.466-46T>C, XR_243256.1:n.678-46T>C, XM_006721011.1:c.466-46T>C, NM_148415.2:c.466-46T>C, 60750573, XM_005255065.1:c.466-46T>C, 8049439, 56444343, rs8049439, NC_000016.10:g.28826194T>C, NM_145714.2:c.466-46T>C, XM_006721008.1:c.466-46T>C, NC_000016.10:g.28826194T>G, XM_006721012.2:c.466-46T>C, XM_005255061.1:c.466-46T>C, XR_243257.1:n.678-46T>C, XM_005255074.1:c.466-46T>C, NM_148416.2:c.466-46T>C, NM_001308230.1:c.466-46T>C, XM_005255066.1:c.466-46T>C, NM_148414.2:c.466-46T>C, NM_007245.3:c.466-46T>C, XM_006721007.1:c.466-46T>C, XM_005255072.1:c.466-46T>C, NC_000016.9:g.28837515T>C, NC_000016.9:g.28837515T>A, XM_005255077.1:c.286-46T>C, XM_005255062.1:c.466-46T>C, XM_011545719.1:c.466-46T>C, XM_011545722.1:c.100-46T>C, NM_001310136.1:c.121-359292A>G, XM_011545720.1:c.466-46T>C, XM_006721013.2:c.466-46T>C, NC_000016.9:g.28837515T>G, XM_005255067.1:c.466-46T>C, XM_005255073.1:c.466-46T>C, NM_017492.3:c.466-46T>C +PA166155083 rs8050136 PA152208656 FTO NC_000016.10:53782363 2 0 0 0 0 XM_011523315.1:c.46-27777C>A, NC_000016.10:g.53782363=, NM_001080432.2:c.46-27777C>A, NC_000016.9:g.53816275=, 8050136, rs8050136, XM_011523316.1:c.46-27777C>A, rs57095495, NG_012969.1:g.83401=, 17817527, NG_012969.1:g.83401C>A, XM_011523313.1:c.46-27777C>A, NC_000016.10:g.53782363C>A, NC_000016.9:g.53816275C>A, XM_011523314.1:c.46-27777C>A, rs17817527, 57095495 +PA166161577 rs8050881 NC_000016.10:15943404 1 0 0 0 0 NC_000016.9:g.16037261=, NC_000016.10:g.15943404=, NC_000016.9:g.16037261A>G, 58550138, NC_000016.10:g.15943404A>C, NC_000016.9:g.16037261A>C, NC_000016.10:g.15943404A>G, 8050881, rs8050881 +PA166155084 rs8050894 PA133787052 VKORC1 NC_000016.10:31093188 13 1 0 0 0 NC_000016.10:g.31093188C>T, XM_011545943.1:c.283+124G>C, NG_011564.1:g.6768=, NG_011564.1:g.6768G>T, NC_000016.9:g.31104509C>T, NM_001311311.1:c.283+124G>C, XM_011545944.1:c.283+124G>C, NC_000016.10:g.31093188C>G, NM_024006.5:c.283+124G>C, rs8050894, XM_011545945.1:c.173+1369G>C, XR_950848.1:n.1071+124G>C, rs17886369, 8050894, 17886369, NM_206824.2:c.173+1369G>C, NC_000016.10:g.31093188C>A, NC_000016.9:g.31104509C>G, NG_011564.1:g.6768G>C, NC_000016.9:g.31104509C>A, NG_011564.1:g.6768G>A, NC_000016.9:g.31104509=, XR_243303.1:n.832+124G>C, XM_005255568.1:c.283+124G>C, NC_000016.10:g.31093188= +PA166184306 rs8050896 NC_000016.10:66124833 1 1 0 0 0 NC_000016.9:g.66158736A>T, NC_000016.10:g.66124833=, 8050896, NC_000016.10:g.66124833A>T, rs8050896, 60762149, NC_000016.9:g.66158736=, 111180923 +PA166155085 rs8056100 PA24393 ABCC11 NC_000016.10:48226719 1 0 0 0 0 rs58118497, NG_011522.1:g.13459=, NM_145186.2:c.395+1087C>T, XM_005256209.1:c.395+1087C>T, XM_005256210.1:c.395+1087C>T, XR_243432.1:n.500+1087C>T, 8056100, NC_000016.10:g.48226719=, NM_033151.3:c.395+1087C>T, NC_000016.9:g.48260630G>A, 58118497, NM_032583.3:c.395+1087C>T, NC_000016.9:g.48260630=, XM_011523396.1:c.197+1087C>T, NC_000016.10:g.48226719G>A, XM_005256208.1:c.395+1087C>T, rs8056100, NG_011522.1:g.13459C>T +PA166155086 rs8058040 PA244 ABCC1 NC_000016.10:16013855 1 0 0 0 0 XM_011522497.1:c.328-636A>G, NG_028268.2:g.69279=, XM_005255326.1:c.352-636A>G, NC_000016.9:g.16107712A>G, 56942501, XM_005255329.1:c.352-636A>G, XM_005255328.1:c.352-2641A>G, NG_028268.2:g.69279A>G, XM_005255327.1:c.352-636A>G, NC_000016.10:g.16013855=, NC_000016.10:g.16013855A>G, NC_000016.9:g.16107712=, NM_004996.3:c.352-636A>G, XM_011522498.1:c.406-636A>G, rs56942501, rs8058040, NG_028268.1:g.69279A>G, 8058040, NG_028268.1:g.69279=, NT_187607.1:g.1671731A>G +PA166203151 rs8058694 PA58 ABCC6 NC_000016.10:16185006 1 0 0 0 0 NG_007558.2:g.43466=, NP_001162.4:p.His632Gln, NC_000016.9:g.16278863=, NC_000016.9:g.16278863G>T, 117879663, NC_000016.10:g.16185006G>T, NP_001162.4:p.His632=, 56728784, 52827050, 8058694, rs8058694, NC_000016.10:g.16185006=, NG_007558.2:g.43466C>A +PA166155087 rs8060157 PA134903681 ZNF423 NC_000016.10:49796293 1 1 0 0 0 NM_015069.3:c.17-6747T>C, rs58020317, NM_001271620.1:c.-164-6747T>C, NG_032972.2:g.66627=, NC_000016.9:g.49830204=, XM_006721171.2:c.62-6747T>C, XM_011522962.1:c.110-6747T>C, NG_032972.1:g.66627T>C, XM_005255855.1:c.23-6747T>C, NC_000016.10:g.49796293=, XM_005255854.1:c.110-6747T>C, 8060157, rs8060157, 58020317, NC_000016.9:g.49830204A>G, NC_000016.10:g.49796293A>G, NG_032972.2:g.66627T>C +PA166156953 rs806368 PA26681 CNR1 NC_000006.12:88140381 5 2 0 0 0 NM_033181.3:c.*3475A>G, NC_000006.11:g.88850100T>A, rs806368, XM_005248650.3:c.*3475A>G, NC_000006.11:g.88850100=, NC_000006.11:g.88850100T>C, NC_000006.12:g.88140381=, XM_011535424.1:c.*3475A>G, XM_011535425.1:c.*3475A>G, NM_001160226.1:c.*3475A>G, NC_000006.12:g.88140381T>C, XM_011535426.1:c.*3475A>G, NM_001160259.1:c.*3475A>G, XM_005248649.1:c.*3475A>G, XM_011535428.1:c.*3475A>G, 60136038, XM_006715330.2:c.*3475A>G, XM_011535427.1:c.*3475A>G, rs60136038, NM_001160258.1:c.*3475A>G, NC_000006.12:g.88140381T>A, XM_005248650.1:c.*3475A>G, XM_005248652.1:c.*3475A>G, rs1744448, XM_005248651.1:c.*3475A>G, NM_016083.4:c.*3475A>G, 1744448, 806368 +PA166156954 rs806374 PA26681 CNR1 NC_000006.12:88147601 2 0 0 0 0 XM_011535427.1:c.-64+15A>G, NM_001160259.1:c.-63-2264A>G, NC_000006.12:g.88147601=, NC_000006.11:g.88857320T>G, XM_011535428.1:c.-63-2264A>G, NM_016083.4:c.-63-2264A>G, XM_005248652.1:c.-79-2264A>G, 1744430, rs1744430, rs57399011, XM_006715330.2:c.-63-2264A>G, NC_000006.11:g.88857320=, NM_001160226.1:c.-64+63A>G, rs58915827, XM_005248649.1:c.-63-2264A>G, XM_011535425.1:c.-64+15A>G, 806374, XM_005248651.1:c.-63-2264A>G, XM_005248650.1:c.-64+15A>G, 57399011, 58915827, rs806374, NM_001160258.1:c.-64+63A>G, XM_011535424.1:c.-64+15A>G, NC_000006.12:g.88147601T>C, XM_005248650.3:c.-64+15A>G, XM_011535426.1:c.-64+15A>G, NC_000006.11:g.88857320T>C, NC_000006.12:g.88147601T>G +PA166156955 rs806377 PA26681 CNR1 NC_000006.12:88149004 1 0 0 0 0 XM_005248651.1:c.-63-3667A>G, XM_011535425.1:c.-254-1198A>G, NC_000006.12:g.88149004T>A, NC_000006.12:g.88149004=, 56880285, NC_000006.12:g.88149004T>C, 1744432, rs1744432, rs17205167, XM_011535426.1:c.-254-1198A>G, NM_001160258.1:c.-206-1198A>G, NC_000006.11:g.88858723T>A, 806377, NC_000006.11:g.88858723T>C, XM_011535427.1:c.-254-1198A>G, NM_016083.4:c.-63-3667A>G, 17205167, NM_001160259.1:c.-63-3667A>G, XM_005248650.3:c.-254-1198A>G, rs806377, NM_001160226.1:c.-206-1198A>G, XM_005248650.1:c.-1452A>G, XM_006715330.2:c.-63-3667A>G, XM_011535424.1:c.-254-1198A>G, XM_005248649.1:c.-63-3667A>G, XM_005248652.1:c.-79-3667A>G, rs52811495, XM_011535428.1:c.-63-3667A>G, NC_000006.11:g.88858723=, 52811495, rs56880285 +PA166156956 rs806378 PA26681 CNR1 NC_000006.12:88149832 2 1 0 0 0 XM_005248651.1:c.-63-4495G>A, NC_000006.12:g.88149832=, NC_000006.11:g.88859551C>T, XM_011535424.1:c.-254-2026G>A, XM_005248650.3:c.-255+651G>A, NM_001160259.1:c.-63-4495G>A, rs806378, NM_016083.4:c.-63-4495G>A, XM_005248652.1:c.-79-4495G>A, XM_011535426.1:c.-255+651G>A, XM_011535428.1:c.-63-4495G>A, rs1744433, 1744433, XM_011535425.1:c.-254-2026G>A, NC_000006.11:g.88859551=, XM_005248649.1:c.-63-4495G>A, NC_000006.12:g.88149832C>T, XM_011535427.1:c.-255+651G>A, XM_006715330.2:c.-63-4495G>A, NM_001160258.1:c.-206-2026G>A, 806378, NM_001160226.1:c.-206-2026G>A +PA166232207 rs806380 PA26681 CNR1 NC_000006.12:88154934 1 0 0 0 0 806380, rs806380, NC_000006.11:g.88864653A>G, NC_000006.12:g.88154934A>G, NC_000006.12:g.88154934=, 1741649, NC_000006.11:g.88864653= +PA166282682 rs8065080 NC_000017.11:3577153 1 0 0 0 0 NG_029716.1:g.37259A>G, NC_000017.11:g.3577153T>C, NC_000017.10:g.3480447=, NG_029716.1:g.37259=, NP_061197.4:p.Ile585=, 8065080, rs8065080, 57404253, NC_000017.11:g.3577153=, NC_000017.10:g.3480447T>C, NP_061197.4:p.Ile585Val +PA166196241 rs8065082 PA162403808 SLC47A1 NC_000017.11:19561878 1 0 0 0 0 8065082, rs8065082, NC_000017.10:g.19465191=, 52790497, NC_000017.11:g.19561878=, NC_000017.10:g.19465191C>T, NC_000017.11:g.19561878C>T +PA166199006 rs8068318 PA36360 TBX2 NC_000017.11:61406405 1 1 0 0 0 NC_000017.10:g.59483766C>T, NC_000017.11:g.61406405=, 60044244, NC_000017.10:g.59483766C>G, rs8068318, 8068318, NC_000017.11:g.61406405C>G, 61544013, NC_000017.11:g.61406405C>T, NC_000017.10:g.59483766= +PA166155233 rs8069732 PA205 ITGB3 NC_000017.11:47275569 1 0 0 0 0 8069732, rs8069732, NM_000212.2:c.165+1065C>T, NC_000017.11:g.47275569=, NG_008332.2:g.26728C>A, NC_000017.10:g.45352935C>T, NC_000017.11:g.47275569C>T, NG_008332.2:g.26728=, NG_008332.2:g.26728C>T, 60028754, NC_000017.10:g.45352935=, NC_000017.10:g.45352935C>A, rs60028754, NC_000017.11:g.47275569C>A +PA166155234 rs8071253 PA134958475,PA352 AFMID,TK1 NC_000017.11:78188386 1 0 0 0 0 NC_000017.10:g.76184467=, XM_011524336.1:c.63+953G>A, XM_011524335.1:c.-206+953G>A, NC_000017.11:g.78188386=, XM_011524332.1:c.-217+953G>A, XR_934369.1:n.76+953G>A, NG_051962.1:g.3819=, NC_000017.10:g.76184467G>C, XM_011524328.1:c.-303+953G>A, XM_011524326.1:c.63+953G>A, rs8071253, XM_011524330.1:c.-292+1556G>A, 8071253, NM_001145526.2:c.63+953G>A, NM_001010982.4:c.63+953G>A, NR_027083.1:n.117+953G>A, NG_051962.1:g.3819C>G, NM_003258.4:c.-1392C>T, XM_011524337.1:c.63+953G>A, NG_051962.1:g.3819C>T, NC_000017.10:g.76184467G>A, XM_011524329.1:c.-291-2584G>A, XM_011524333.1:c.63+953G>A, NC_000017.11:g.78188386G>C, NC_000017.11:g.78188386G>A, XM_011524334.1:c.-206+953G>A, XM_011524327.1:c.-292+953G>A, XM_011524331.1:c.-206+953G>A +PA166184249 rs8075924 NC_000017.11:63505531 1 1 0 0 0 8075924, NC_000017.11:g.63505531C>T, rs8075924, 17352137, NC_000017.10:g.61582892C>T, NC_000017.11:g.63505531=, 60544633, NC_000017.10:g.61582892=, 56557254 +PA166195109 rs8079215 PA238 MAPT NC_000017.11:45987485 1 0 0 0 0 NC_000017.11:g.45987485=, NC_000017.10:g.44064851C>T, NG_007398.1:g.98065T>C, NC_000017.10:g.44064851=, NG_007398.1:g.98065T>A, NG_007398.2:g.98023C>A, NC_000017.11:g.45987485C>A, 80211236, NC_000017.10:g.44064851C>A, 56665376, NC_000017.11:g.45987485C>T, NG_007398.2:g.98023C>T, 8079215, rs8079215, NG_007398.2:g.98023= +PA166155309 rs8083511 PA36601 TNFRSF11A NC_000018.10:62361422 1 0 0 0 0 NC_000018.10:g.62361422=, NC_000018.9:g.60028655=, NG_008098.1:g.41108=, NC_000018.9:g.60028655A>T, NC_000018.10:g.62361422A>C, XR_935263.1:n.647-258A>C, NC_000018.9:g.60028655A>C, NM_001278268.1:c.575-258A>C, NC_000018.9:g.60028655A>G, NM_003839.2:c.617-258A>C, NC_000018.10:g.62361422A>T, NM_003839.3:c.617-258A>C, NM_001270950.1:c.617-258A>C, rs60973936, XM_005266777.1:c.617-258A>C, XM_011526245.1:c.509-258A>C, NG_008098.1:g.41108A>G, XM_011526244.1:c.632-258A>C, 60973936, NG_008098.1:g.41108A>C, NM_001270951.1:c.616+1373A>C, 8083511, rs8083511, NC_000018.10:g.62361422A>G, NG_008098.1:g.41108A>T, NM_001270949.1:c.617-258A>C +PA166155310 rs8087522 PA30676 MC4R NC_000018.10:60373245 3 0 0 0 0 NG_016441.1:g.4524C>T, NG_016441.1:g.4524=, rs8087522, NC_000018.10:g.60373245G>A, NC_000018.9:g.58040478G>A, 8087522, NC_000018.9:g.58040478=, NC_000018.10:g.60373245=, NM_005912.2:c.-896C>T +PA166155311 rs8090560 PA31582 NFATC1 NC_000018.10:79453155 1 0 0 0 0 NM_172387.2:c.1864+1339G>A, NG_029226.1:g.62384=, NM_001278670.1:c.1903+1339G>A, NG_029226.1:g.62384G>A, NG_029226.1:g.62384G>C, NC_000018.10:g.79453155G>A, NM_001278673.1:c.487+1339G>A, NC_000018.10:g.79453155G>C, NM_001278672.1:c.1864+1339G>A, NC_000018.10:g.79453155=, NM_006162.4:c.1903+1339G>A, NM_172390.2:c.1903+1339G>A, XM_005266701.1:c.1870+1339G>A, NM_172389.2:c.1864+1339G>A, 60596973, NC_000018.9:g.77213155=, NM_172388.2:c.487+1339G>A, NC_000018.9:g.77213155G>C, NC_000018.9:g.77213155G>A, rs60596973, XM_005266702.1:c.1903+1339G>A, NM_001278669.1:c.1903+1339G>A, NM_001278675.1:c.1864+1339G>A, rs8090560, 8090560 +PA166159114 rs8092360 NC_000018.10:63106605 1 0 0 0 0 NC_000018.9:g.60773838=, NC_000018.10:g.63106605=, NC_000018.9:g.60773838C>T, rs8092360, 56875181, NC_000018.10:g.63106605C>T, 8092360 +PA166155312 rs8092654 PA27361 DLGAP1 NC_000018.10:3956145 1 0 0 0 0 XM_011525771.1:c.-73+48971G>A, rs8092654, 8092654, NC_000018.10:g.3956145C>T, NM_004746.3:c.-73+48971G>A, XR_935073.1:n.499+48971G>A, NC_000018.9:g.3956145=, XM_005258171.1:c.-73+48971G>A, XM_011525770.1:c.-73+48971G>A, NC_000018.9:g.3956145C>T, NC_000018.10:g.3956145=, XM_005258172.1:c.-73+48971G>A, NM_001242761.1:c.-73+48971G>A +PA166155313 rs8093815 NC_000018.10:60369270 1 0 0 0 0 NC_000018.10:g.60369270G>C, NC_000018.9:g.58036503=, rs8093815, NC_000018.10:g.60369270=, NC_000018.9:g.58036503G>A, 8093815, NC_000018.9:g.58036503G>C, NC_000018.10:g.60369270G>A +PA166170277 rs8094439 PA26293 CDH2 NC_000018.10:28132643 1 1 0 0 0 NC_000018.10:g.28132643=, 17747114, 8094439, rs8094439, 17498670, 17536444, NC_000018.10:g.28132643G>A, NG_011959.1:g.49839=, NC_000018.9:g.25712607G>A, NG_011959.1:g.49839C>T, 56760299, 17469147, NC_000018.9:g.25712607= +PA166154851 rs809736 PA34630 RORA NC_000015.10:61037589 1 1 0 0 0 59500220, NC_000015.9:g.61329788=, NG_029246.1:g.196715=, NM_134261.2:c.166+191464T>C, 809736, NC_000015.10:g.61037589A>G, rs809736, NC_000015.9:g.61329788A>G, NG_029246.1:g.196715T>C, XM_011521878.1:c.-328+191464T>C, rs59500220, NC_000015.10:g.61037589= +PA166155435 rs8099917 PA134952671,PA166049147 IFNL3,IFNL4 NC_000019.10:39252525 91 4 1 0 0 NG_055295.1:g.1332=, rs8099917, NC_000019.9:g.39743165T>G, 8099917, NG_055295.1:g.1332A>C, NC_000019.10:g.39252525T>G, NC_000019.9:g.39743165=, rs60715659, 60715659, NC_000019.10:g.39252525= +PA166170101 rs8100458 PA123 CYP2B6 NC_000019.10:40994308 1 0 0 0 0 NC_000019.9:g.41500213=, 57206436, NG_007929.1:g.8010=, NC_000019.10:g.40994308T>C, rs8100458, 8100458, NC_000019.10:g.40994308=, 17726680, NC_000019.9:g.41500213T>C, NG_007929.1:g.8010T>C +PA166155436 rs8101143 NC_000019.10:21773334 1 0 0 0 0 17686410, rs8101143, 8101143, NC_000019.10:g.21773334G>A, rs58479809, NC_000019.10:g.21773334G>C, NW_003315964.2:g.134524G>A, NC_000019.10:g.21773334=, rs17686410, 58479809, NC_000019.9:g.21956136=, NC_000019.9:g.21956136G>A, NC_000019.9:g.21956136G>C +PA166155437 rs8103142 PA134952671 IFNL3 NC_000019.10:39244466 4 1 0 0 0 XM_005258765.3:c.221A>G, NP_742151.2:p.Lys70Arg, XM_011526757.1:c.221A>G, rs8103142, 8103142, NG_042193.1:g.5506A>G, NC_000019.9:g.39735106=, XM_005258765.1:c.221A>G, NC_000019.9:g.39735106T>C, NC_000019.10:g.39244466=, NG_055295.1:g.9391=, NC_000019.10:g.39244466T>C, NG_042193.1:g.5506=, NG_055295.1:g.9391A>G, XP_005258822.1:p.Lys74Arg, NM_172139.2:c.209A>G, XP_011525059.1:p.Lys74Arg, NP_742151.2:p.Lys70= +PA166181978 rs8104361 PA27120 CYP4F11 NC_000019.10:15923904 1 0 0 0 0 NC_000019.9:g.16034714A>T, 8104361, rs8104361, 58448946, NC_000019.9:g.16034714=, NC_000019.10:g.15923904A>G, NP_067010.3:p.Cys276Ser, NG_008335.1:g.15963T>A, 52823042, NG_008335.1:g.15963T>C, NC_000019.10:g.15923904=, 17845510, NP_067010.3:p.Cys276Arg, NP_067010.3:p.Cys276=, 17858399, NC_000019.10:g.15923904A>T, NC_000019.9:g.16034714A>G, NG_008335.1:g.15963= +PA166155438 rs8105790 PA134952671 IFNL3 NC_000019.10:39241861 2 1 0 0 0 NC_000019.10:g.39241861T>C, NG_042193.1:g.8111A>G, rs8105790, 8105790, NG_042193.1:g.8111A>T, NG_042193.1:g.8111=, NC_000019.9:g.39732501T>C, NC_000019.10:g.39241861T>A, NC_000019.9:g.39732501=, NC_000019.9:g.39732501T>A, NC_000019.10:g.39241861= +PA166185420 rs8109485 PA33329 PIP5K1C NC_000019.10:3664096 1 1 0 0 0 NC_000019.10:g.3664096A>G, rs8109485, 8109485, NC_000019.10:g.3664096=, NG_012161.1:g.41352=, NC_000019.9:g.3664094=, NG_012161.1:g.41352T>C, NG_012161.2:g.41352T>C, NC_000019.9:g.3664094A>G, NG_012161.2:g.41352=, 57232175 +PA166184141 rs8109525 NC_000019.10:40986013 2 1 0 0 0 NC_000019.9:g.41491918A>G, NC_000019.9:g.41491918A>C, 17726656, NC_000019.9:g.41491918A>T, NC_000019.10:g.40986013A>C, 10419124, NC_000019.10:g.40986013A>T, NC_000019.10:g.40986013A>G, NC_000019.10:g.40986013=, NC_000019.9:g.41491918=, rs8109525, 8109525 +PA166162290 rs8109886 NC_000019.10:39252122 1 0 0 0 0 NC_000019.10:g.39252122C>A, NC_000019.9:g.39742762=, rs8109886, 58009570, 8109886, NC_000019.10:g.39252122=, NC_000019.9:g.39742762C>A, NG_055295.1:g.1735=, NG_055295.1:g.1735G>T +PA166178397 rs8110364 PA33313 PIK3R2 NC_000019.10:18162822 1 1 0 0 0 61072789, NG_033010.1:g.14645G>A, NC_000019.10:g.18162822G>A, NG_033010.2:g.14645=, 8110364, rs8110364, NC_000019.9:g.18273632G>A, NG_033010.1:g.14645=, NC_000019.9:g.18273632=, NC_000019.10:g.18162822=, NG_033010.2:g.14645G>A +PA166155439 rs8110536 PA134861073 MISP NC_000019.10:756985 1 0 0 0 0 rs17762604, 8110536, NC_000019.9:g.756985T>A, XP_011525988.1:p.Pro13=, XM_011527686.1:c.39T>G, 60374394, XM_011527685.1:c.39T>G, 12979335, NC_000019.9:g.756985T>G, NC_000019.9:g.756985=, NM_173481.2:c.39T>G, XP_005259550.1:p.Pro13=, XM_005259493.1:c.39T>G, NC_000019.10:g.756985T>A, NP_775752.1:p.Pro13=, rs12979335, 17762604, XP_011525987.1:p.Pro13=, NC_000019.10:g.756985=, rs60374394, rs8110536, NC_000019.10:g.756985T>G +PA166155440 rs8113007 NC_000019.10:39252463 1 1 0 0 0 NG_055295.1:g.1394=, NG_055295.1:g.1394T>A, NC_000019.9:g.39743103A>T, 8113007, NC_000019.10:g.39252463A>T, NC_000019.9:g.39743103=, NC_000019.10:g.39252463=, rs8113007 +PA166155441 rs8113308 PA134937067 ZNF613 NC_000019.10:51942133 1 0 0 0 0 rs57253390, 8113308, NC_000019.9:g.52445386T>C, NC_000019.10:g.51942133=, NC_000019.9:g.52445386=, XM_005259269.1:c.235+1424T>C, XM_005259269.2:c.235+1424T>C, NM_001031721.3:c.235+1424T>C, 57253390, NM_024840.3:c.127+1424T>C, rs8113308, NC_000019.10:g.51942133T>C, XM_011527333.1:c.235+1424T>C +PA166180546 rs8124728 PA34938,PA25658 SAMHD1,TLDC2 NC_000020.11:36892303 1 1 0 0 0 8124728, NG_017059.1:g.64541C>T, NC_000020.10:g.35520706=, rs8124728, NG_017059.1:g.64541=, NC_000020.11:g.36892303G>A, NC_000020.11:g.36892303=, NC_000020.10:g.35520706G>A +PA166163373 rs8126756 PA29676 IFNGR2 NC_000021.9:33403138 1 0 0 0 0 NC_000021.9:g.33403138T>C, NG_007570.2:g.23146=, NC_000021.8:g.34775444T>C, NG_007570.2:g.23146T>C, NC_000021.9:g.33403138=, NC_000021.8:g.34775444=, NC_000021.8:g.34775444T>G, NC_000021.9:g.33403138T>G, rs8126756, 8126756, NG_007570.2:g.23146T>G +PA166156011 rs8133052 PA26122 CBR3 NC_000021.9:36135203 5 1 0 0 0 NM_001236.3:c.11G>A, NP_001227.1:p.Cys4Ser, NC_000021.8:g.37507501G>C, NR_038893.1:n.193-2129C>T, XP_005261131.1:p.Cys4Tyr, NR_038892.1:n.193-1442C>T, NG_052818.1:g.5303=, XM_005261074.1:c.11G>A, XP_011528074.1:p.Cys4Tyr, NC_000021.9:g.36135203=, NP_001227.1:p.Cys4Tyr, NG_052818.1:g.5303G>A, NC_000021.9:g.36135203G>A, NG_052818.1:g.5303G>C, NC_000021.9:g.36135203G>C, 57678090, NP_001227.1:p.Cys4=, rs8133052, XM_011529772.1:c.11G>A, NC_000021.8:g.37507501G>A, 8133052, rs17283714, NC_000021.8:g.37507501=, 17283714, rs57678090 +PA166184318 rs813676 PA36532 TJP1 NC_000015.10:29901113 1 1 0 0 0 rs813676, NC_000015.10:g.29901113=, 1719017, 813676, NC_000015.9:g.30193316=, 60587289, NC_000015.10:g.29901113T>C, NC_000015.9:g.30193316T>A, NC_000015.10:g.29901113T>A, NC_000015.9:g.30193316T>C +PA166156130 rs8136867 PA30616 MAPK1 NC_000022.11:21850504 2 0 0 0 0 NM_002745.4:c.119+16818C>T, NC_000022.11:g.21850504=, NC_000022.10:g.22204793G>A, NG_023054.2:g.22177=, 61489846, NG_023054.2:g.22177C>T, NC_000022.10:g.22204793=, NM_138957.3:c.119+16818C>T, rs8136867, NC_000022.11:g.21850504G>A, rs61489846, 8136867 +PA166153589 rs814951 NC_000001.11:190562869 1 0 0 0 0 814951, NC_000001.11:g.190562869=, NC_000001.10:g.190531999C>T, NC_000001.10:g.190531999=, NC_000001.11:g.190562869C>T, rs814951, rs386615645, rs58171216, 58171216, 386615645 +PA166229682 rs815147 NC_000001.11:90506613 1 0 0 0 0 815314, NC_000001.10:g.90972170T>C, 815147, NC_000001.10:g.90972170T>A, 59507960, NC_000001.10:g.90972170=, rs815147, 1280783, NC_000001.11:g.90506613T>G, NC_000001.11:g.90506613T>A, NC_000001.11:g.90506613=, NC_000001.11:g.90506613T>C, NC_000001.10:g.90972170T>G +PA166159020 rs8175347 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 1 0 0 0 2 UGT1A1*28, rs3064744, rs8175347, 8175347, UGT1A1*36, UGT1A1*37 +PA166170086 rs8176719 PA24415 ABO NC_000009.12:133257522 1 1 0 0 0 NC_000009.12:g.133257521_133257522=, NC_000009.11:g.136132908_136132909=, NC_000009.11:g.136132908_136132909insC, NC_000009.12:g.133257521_133257522insC, rs8176719, 8176719 +PA166157796 rs8176740 PA24415 ABO NC_000009.12:133256085 1 0 0 0 0 XP_005276905.1:p.Phe215Ile, rs8176740, 8176740, NP_065202.2:p.Phe216=, NW_009646201.1:g.82178A>T, XM_005276851.1:c.223T>A, XM_005276852.1:c.223T>A, NG_006669.1:g.21583=, XM_005276848.1:c.643T>A, NP_065202.2:p.Phe216Ile, XP_005276907.1:p.Phe75Ile, NG_006669.2:g.24131T>A, XP_005276908.1:p.Phe75Ile, XP_005276906.1:p.Phe197Ile, NG_006669.1:g.21583T>A, NC_000009.11:g.136131472=, XM_005276849.1:c.589T>A, XP_005276909.1:p.Phe75Ile, NG_006669.2:g.24131=, XM_005276850.1:c.223T>A, NC_000009.11:g.136131472A>T, NC_000009.12:g.133256085A>T, NC_000009.12:g.133256085=, NM_020469.2:c.646T>A +PA166157797 rs8176746 PA24415 ABO NC_000009.12:133255935 3 0 0 0 0 XM_005276852.1:c.373C>A, rs52812928, 58313875, NM_020469.2:c.796C>A, 52812928, NC_000009.12:g.133255935G>T, NC_000009.11:g.136131322G>T, XP_005276908.1:p.Leu125Met, 386615834, XM_005276849.1:c.739C>A, XP_005276905.1:p.Leu265Met, XP_005276906.1:p.Leu247Met, NG_006669.2:g.24281C>A, NC_000009.11:g.136131322G>A, XM_005276848.1:c.793C>A, XM_005276850.1:c.373C>A, NC_000009.12:g.133255935=, NG_006669.2:g.24281C>T, NP_065202.2:p.Leu266Met, NC_000009.12:g.133255935G>A, NG_006669.1:g.21733C>A, NG_006669.2:g.24281=, XM_005276851.1:c.373C>A, XP_005276907.1:p.Leu125Met, rs386615834, NC_000009.11:g.136131322=, rs58313875, NG_006669.1:g.21733C>T, rs8176746, XP_005276909.1:p.Leu125Met, 8176746, NP_065202.2:p.Leu266=, NG_006669.1:g.21733=, NW_009646201.1:g.82028G>T +PA166175800 rs8177374 PA134972842 TIRAP NC_000011.10:126292948 1 1 0 0 0 386502799, NG_011523.1:g.14862C>T, NC_000011.10:g.126292948=, NP_683708.1:p.Ser180Leu, NP_683708.1:p.Ser180=, 8177374, NC_000011.9:g.126162843C>T, rs8177374, NC_000011.10:g.126292948C>T, NC_000011.9:g.126162843=, NG_011523.1:g.14862= +PA166157131 rs8177516 PA331 SLC22A2 NC_000006.12:160243653 1 0 0 0 0 NP_003049.2:p.Arg400Cys, NP_003049.2:p.Arg400=, rs52794771, NC_000006.12:g.160243653G>A, rs59822044, NP_003049.2:p.Arg400Ser, NC_000006.12:g.160243653G>T, NC_000006.11:g.160664685G>A, NM_003058.3:c.1198C>T, NC_000006.12:g.160243653=, 52794771, 59822044, NC_000006.11:g.160664685=, NC_000006.11:g.160664685G>T, 8177516, rs8177516 +PA166156426 rs8178607 PA33809 PROS1 NC_000003.12:93935148 1 0 0 0 0 XM_005247626.3:c.77-6351C>T, XM_005247626.1:c.77-6351C>T, NM_000313.3:c.77-7741C>T, 58324054, NC_000003.12:g.93935148=, 386615972, NG_009813.1:g.43943C>T, rs386615972, NC_000003.11:g.93653992G>A, rs58324054, 8178607, NG_009813.1:g.43943=, NM_001314077.1:c.77-6351C>T, NC_000003.11:g.93653992=, NC_000003.12:g.93935148G>A, rs8178607 +PA166155236 rs8178822 PA24903 APOH NC_000017.11:66229411 1 0 0 0 0 NG_012045.1:g.5028=, rs8178822, XM_005257304.1:c.-32C>A, NC_000017.11:g.66229411G>T, 8178822, 60898032, NG_012045.1:g.5028C>A, NC_000017.10:g.64225529G>T, 386616016, rs386616016, rs17769656, NC_000017.10:g.64225529=, rs60898032, 17769656, NM_000042.2:c.-32C>A, NC_000017.11:g.66229411= +PA166156427 rs8180093 PA395 ABCC5 NC_000003.12:183924515 1 0 0 0 0 XM_005247058.1:c.4212+1040C>T, NM_005688.3:c.4212+1040C>T, XM_011512316.1:c.2796+1040C>T, NC_000003.12:g.183924515G>A, NC_000003.12:g.183924515=, NC_000003.11:g.183642303G>A, XM_005247059.1:c.4212+1040C>T, XM_005247062.1:c.2796+1040C>T, XM_005247059.3:c.4212+1040C>T, NG_047115.1:g.98496C>T, 57180202, NG_047115.1:g.98496=, 52812752, rs52812752, NC_000003.11:g.183642303=, NM_001320032.1:c.2796+1040C>T, XM_005247058.3:c.4212+1040C>T, XM_005247060.1:c.4212+1040C>T, XM_011512314.1:c.4212+1040C>T, rs8180093, rs57180202, 8180093 +PA166153590 rs818194 PA98 CDA NC_000001.11:20605335 1 0 0 0 0 rs818194, NC_000001.10:g.20931828A>T, rs74312953, NM_001785.2:c.266+296A>T, NC_000001.11:g.20605335A>G, NC_000001.11:g.20605335=, rs2934357, 2934357, 818194, 74312953, NC_000001.10:g.20931828A>G, NC_000001.10:g.20931828=, NC_000001.11:g.20605335A>T +PA166180511 rs8187692 PA116 ABCC2 NC_000010.11:99836218 1 0 0 0 0 NC_000010.11:g.99836218=, 58709882, NC_000010.10:g.101595975G>T, NG_011798.1:g.58513G>T, NC_000010.11:g.99836218G>T, NP_000383.2:p.Arg1181Leu, NC_000010.10:g.101595975G>A, NG_011798.2:g.58621G>T, NG_011798.2:g.58621=, NC_000010.10:g.101595975=, NG_011798.1:g.58513G>A, 17222702, NP_000383.2:p.Arg1181Gln, NG_011798.2:g.58621G>A, NC_000010.11:g.99836218G>A, 8187692, NG_011798.1:g.58513=, NP_000383.2:p.Arg1181=, rs8187692 +PA166180529 rs8187706 PA116 ABCC2 NC_000010.11:99850698 1 0 0 0 0 NC_000010.10:g.101610455=, NC_000010.11:g.99850698=, 17216219, NC_000010.11:g.99850698G>A, NG_011798.2:g.73101G>A, NG_011798.1:g.72993=, 8187706, rs8187706, NC_000010.10:g.101610455G>A, NP_000383.2:p.Glu1470=, NG_011798.2:g.73101=, NG_011798.1:g.72993G>A, 57171884 +PA166154093 rs8187707 PA116 ABCC2 NC_000010.11:99850776 2 1 0 0 0 XP_005269593.1:p.His1403=, NP_000383.2:p.His1496=, NC_000010.11:g.99850776=, NC_000010.10:g.101610533=, rs17216226, NG_011798.2:g.73179C>T, NG_011798.1:g.73071=, NG_011798.2:g.73179=, NM_000392.4:c.4488C>T, 17580371, 17216226, rs8187707, rs60720814, 8187707, XP_006717693.1:p.His1264=, XR_945605.1:n.4552C>T, NG_011798.1:g.73071C>T, NP_000383.1:p.His1496=, NC_000010.10:g.101610533C>T, XM_005269536.1:c.4209C>T, rs17580371, NC_000010.11:g.99850776C>T, 60720814, XM_006717630.2:c.3792C>T +PA166154094 rs8187710 PA116 ABCC2 NC_000010.11:99851537 16 5 0 0 0 XR_945605.1:n.4608G>A, rs17222568, XM_005269536.1:c.4265G>A, NP_000383.1:p.Cys1515Tyr, rs58135906, NG_011798.2:g.73940=, rs52804507, NC_000010.10:g.101611294=, NG_011798.2:g.73940G>A, 17222568, XM_006717630.2:c.3848G>A, NC_000010.11:g.99851537=, XP_005269593.1:p.Cys1422Tyr, NG_011798.1:g.73832G>A, NM_000392.4:c.4544G>A, NG_011798.1:g.73832=, XP_006717693.1:p.Cys1283Tyr, NC_000010.11:g.99851537G>A, 58135906, NC_000010.10:g.101611294G>A, NP_000383.2:p.Cys1515=, rs8187710, 8187710, 52804507, NP_000383.2:p.Cys1515Tyr +PA166157132 rs8187725 PA330 SLC22A3 NC_000006.12:160437122 1 1 0 0 0 NC_000006.11:g.160858154C>T, XP_011534378.1:p.Thr248Ile, rs45604940, XM_011536076.1:c.743C>T, XR_245546.1:n.1018-5639C>T, rs8187725, XP_005267163.1:p.Thr269Ile, XP_011534379.1:p.Thr248Ile, 8187725, XM_005267106.1:c.806C>T, NC_000006.12:g.160437122C>A, NP_068812.1:p.Thr400Asn, NC_000006.12:g.160437122=, XM_011536075.1:c.743C>T, NM_021977.3:c.1199C>T, 45604940, NC_000006.11:g.160858154C>A, XM_005267106.3:c.806C>T, XM_011536077.1:c.743C>T, XP_011534377.1:p.Thr248Ile, NC_000006.11:g.160858154=, NP_068812.1:p.Thr400Ile, NC_000006.12:g.160437122C>T, NP_068812.1:p.Thr400= +PA166154926 rs8187758 PA387 SLC28A1 NC_000015.10:84905644 4 0 0 0 0 NP_004204.3:p.Gln237=, XM_011522206.1:c.709C>A, NC_000015.9:g.85448875=, 60871224, XP_011520519.1:p.Gln237Lys, XM_011522213.1:c.709C>A, XP_005255045.1:p.Gln237Lys, XM_011522203.1:c.709C>A, XP_005255049.1:p.Gln228Lys, XM_011522209.1:c.709C>A, XM_011522210.1:c.709C>A, 17222323, XM_005254989.1:c.709C>A, NM_004213.4:c.709C>A, XM_011522208.1:c.682C>A, XP_011520506.1:p.Gln237Lys, XM_011522211.1:c.475C>A, XP_011520514.1:p.Gln237Lys, XP_011520510.1:p.Gln228Lys, XP_011520513.1:p.Gln159Lys, XP_011520518.1:p.Gln159Lys, 52791431, XM_005254992.1:c.682C>A, NP_001274691.1:p.Gln237Lys, XM_005254993.1:c.709C>A, XM_005254994.1:c.475C>A, XM_011522212.1:c.709C>A, XP_005255048.1:p.Gln237Lys, XP_011520507.1:p.Gln237Lys, NP_004204.3:p.Gln237Lys, XP_011520520.1:p.Gln237Lys, XP_011520512.1:p.Gln237Lys, XP_005255047.1:p.Gln237Lys, rs17222323, rs8187758, XP_005255050.1:p.Gln237Lys, NC_000015.9:g.85448875C>A, 8187758, NC_000015.10:g.84905644=, XP_011520517.1:p.Gln237Lys, NP_001274690.1:p.Gln237Lys, XP_011520508.1:p.Gln237Lys, rs60871224, XM_005254995.1:c.709C>A, XM_011522204.1:c.709C>A, XM_011522218.1:c.709C>A, rs52791431, XM_011522214.1:c.709C>A, XM_005254988.1:c.709C>A, XM_005254991.1:c.709C>A, XP_011520505.1:p.Gln237Lys, XP_005255046.1:p.Gln237Lys, XM_011522205.1:c.709C>A, XP_005255051.1:p.Gln159Lys, XP_011520516.1:p.Gln237Lys, XM_011522216.1:c.475C>A, XM_011522217.1:c.709C>A, NM_001287762.1:c.709C>A, XM_011522215.1:c.709C>A, XR_931945.1:n.915C>A, XM_011522207.1:c.709C>A, XP_005255052.1:p.Gln237Lys, XM_005254990.1:c.709C>A, XP_011520515.1:p.Gln237Lys, XP_011520509.1:p.Gln237Lys, XP_011520511.1:p.Gln237Lys, NC_000015.10:g.84905644C>A, XR_931944.1:n.915C>A, NM_001287761.1:c.709C>A +PA166161547 rs8187843 PA244 ABCC1 NC_000016.10:16008018 1 0 0 0 0 NC_000016.9:g.16101875=, NG_028268.2:g.63442G>C, NC_000016.10:g.16008018G>T, NC_000016.9:g.16101875G>C, NC_000016.9:g.16101875G>A, NG_028268.1:g.63442=, 45567436, 57798612, NG_028268.1:g.63442G>C, NG_028268.1:g.63442G>A, NC_000016.10:g.16008018G>C, NG_028268.2:g.63442=, NG_028268.2:g.63442G>T, NC_000016.9:g.16101875G>T, rs8187843, 8187843, NC_000016.10:g.16008018G>A, NC_000016.10:g.16008018=, NG_028268.1:g.63442G>T, NG_028268.2:g.63442G>A +PA166157798 rs8187996 PA24692 ALDH1A1 NC_000009.12:72901579 2 0 0 0 0 NC_000009.11:g.75516495C>T, 17647529, XM_005251801.1:c.1374-299G>A, NC_000009.12:g.72901579=, NG_012249.1:g.56475=, NC_000009.11:g.75516495=, rs17647529, XM_005251800.1:c.1434-299G>A, rs8187996, 8187996, NC_000009.12:g.72901579C>T, NG_012249.1:g.56475G>A, NM_000689.4:c.1434-299G>A +PA166156131 rs8190370 PA27331 CYB5R3 NC_000022.11:42649289 1 0 0 0 0 NC_000022.10:g.43045295G>A, NC_000022.10:g.43045295=, NG_012194.1:g.5111C>T, 8190370, NC_000022.11:g.42649289G>A, NM_000398.6:c.21+6C>T, rs8190370, NC_000022.11:g.42649289=, NG_012194.1:g.5111= +PA166157133 rs8191725 PA164715269,PA29701 AIRN,IGF2R NC_000006.12:160008325 1 0 0 0 0 NC_000006.11:g.160429357A>G, NR_047514.1:n.-661T>C, NC_000006.12:g.160008325A>G, XR_942419.1:n.305-685A>G, NG_011785.3:g.44227A>G, NC_000006.12:g.160008325=, NG_011785.3:g.44227=, rs8191725, 8191725, NM_000876.3:c.290-685A>G, NR_047511.1:n.-661T>C, NC_000006.11:g.160429357= +PA166157434 rs8191992 PA111 CHRM2 NC_000007.14:137016561 1 0 0 0 0 NM_001006631.1:c.*295T>A, NC_000007.13:g.136701308=, NM_001006632.1:c.*295T>A, XM_005250130.1:c.*295T>A, rs10347674, XM_011515769.1:c.*295T>A, NG_011846.2:g.152910T>A, NM_001006627.1:c.*295T>A, NM_001006626.1:c.*295T>A, NM_001006628.1:c.*295T>A, NM_000739.2:c.*295T>A, rs8191992, 8191992, NM_001006629.1:c.*295T>A, NG_011846.2:g.152910=, NC_000007.13:g.136701308T>A, 61486477, rs17415536, 17415536, rs61486477, NC_000007.14:g.137016561T>A, NC_000007.14:g.137016561=, XM_011515771.1:c.*295T>A, XM_011515770.1:c.*295T>A, NR_046103.1:n.341+16233A>T, 10347674, NM_001006630.1:c.*295T>A +PA166154610 rs8192440 PA26904 CRY1 NC_000012.12:107001328 1 1 0 0 0 NC_000012.11:g.107395106A>T, NC_000012.11:g.107395106=, 17852751, rs8192440, rs60959122, 8192440, 17810984, NC_000012.12:g.107001328=, NP_004066.1:p.Gly212=, NC_000012.12:g.107001328A>T, rs17852751, XP_011536241.1:p.Gly184=, NC_000012.11:g.107395106A>G, NM_004075.4:c.636T>C, 60959122, XM_011537939.1:c.552T>C, NC_000012.12:g.107001328A>G, rs17810984 +PA166303421 rs8192552 PA31268 MTNR1B NC_000011.10:92969796 1 0 0 0 0 NG_028160.1:g.5174G>A, NG_028160.1:g.5174=, NP_005950.1:p.Gly24Glu, 8192552, NC_000011.10:g.92969796=, rs8192552, NC_000011.10:g.92969796G>A, NC_000011.9:g.92702962G>A, NC_000011.9:g.92702962=, NP_005950.1:p.Gly24= +PA166159968 rs8192675 PA35876 SLC2A2 NC_000003.12:171007094 1 1 0 0 0 NC_000003.11:g.170724883=, 56441670, 17826573, rs8192675, 8192675, NC_000003.12:g.171007094=, 61326577, NC_000003.12:g.171007094T>C, NC_000003.11:g.170724883T>C, NG_008108.1:g.24886A>G, NG_008108.1:g.24886= +PA166156633 rs8192678 PA33558 PPARGC1A NC_000004.12:23814039 1 0 0 0 0 NC_000004.11:g.23815662=, NG_028250.1:g.81039G>A, 56707915, NC_000004.12:g.23814039=, NM_013261.3:c.1444G>A, XM_005248134.3:c.1459G>A, XP_011512068.1:p.Gly447Ser, XM_005248131.3:c.1456G>A, XM_005248130.2:c.1459G>A, XP_011512067.1:p.Gly470Ser, XP_005248190.1:p.Gly470Ser, 8192678, NP_037393.1:p.Gly482Ser, 56570248, XP_005248187.1:p.Gly487Ser, XP_011512071.1:p.Gly487Ser, 17847358, rs56707915, XM_011513765.1:c.1408G>A, XP_011512073.1:p.Gly355Ser, XM_005248134.1:c.1459G>A, NP_037393.1:p.Gly482=, XM_011513770.1:c.1063G>A, NG_028250.2:g.663937=, NG_028250.2:g.663937G>A, XM_011513771.1:c.1063G>A, rs52829424, XP_005248188.1:p.Gly486Ser, XP_011512072.1:p.Gly355Ser, XM_005248131.1:c.1456G>A, XP_005248189.1:p.Gly479Ser, NC_000004.11:g.23815662C>T, XP_011512069.1:p.Gly447Ser, XP_005248191.1:p.Gly487Ser, XM_005248133.1:c.1408G>A, XM_011513769.1:c.1459G>A, rs56570248, XM_011513764.1:c.1444G>A, XP_011512066.1:p.Gly482Ser, rs17847358, XM_005248132.1:c.1435G>A, XP_011512070.1:p.Gly447Ser, NC_000004.12:g.23814039C>T, XM_011513767.1:c.1339G>A, rs8192678, XM_011513766.1:c.1339G>A, XM_011513768.1:c.1339G>A, 52829424, XM_005248130.1:c.1459G>A +PA166155442 rs8192709 PA123 CYP2B6 NC_000019.10:40991369 14 5 2 0 0 NC_000019.10:g.40991369=, XP_005258627.1:p.Arg22Cys, XP_005258626.1:p.Arg22Cys, XP_011524850.1:p.Arg22Cys, NG_007929.1:g.5071=, NG_007929.1:g.5071C>T, rs8192709, XM_011526548.1:c.64C>T, XM_005258570.1:c.64C>T, XM_005258569.1:c.64C>T, 8192709, XM_011526546.1:c.64C>T, XP_011524848.1:p.Arg22Cys, NC_000019.9:g.41497274C>T, XP_011524849.1:p.Arg22Cys, NP_000758.1:p.Arg22=, XM_006723050.2:c.64C>T, XM_005258569.3:c.64C>T, NG_055439.1:g.2417C>T, NP_000758.1:p.Arg22Cys, XP_006723113.1:p.Arg22Cys, NG_055439.1:g.2417=, NC_000019.9:g.41497274=, NC_000019.10:g.40991369C>T, NM_000767.4:c.64C>T, XM_011526547.1:c.64C>T +PA166155443 rs8192715 PA27106 CYP2B7P1 NC_000019.10:40941190 1 0 0 0 0 NC_000019.9:g.41447095G>A, NC_000019.10:g.40941190G>A, rs35989395, NR_001278.1:n.654-106G>A, NC_000019.9:g.41447095=, 8192715, NC_000019.10:g.40941190=, rs8192715, 35989395 +PA166155444 rs8192719 PA123 CYP2B6 NC_000019.10:41012868 4 1 0 0 0 XM_006723050.2:c.1294+53C>T, XM_011526549.1:c.703+53C>T, NC_000019.10:g.41012868=, NC_000019.9:g.41518773C>T, XM_011526547.1:c.1153-105C>T, NM_000767.4:c.1294+53C>T, rs61315206, XM_005258569.3:c.1152+383C>T, XM_011526550.1:c.694+53C>T, XM_011526548.1:c.814+53C>T, XP_011524848.1:p.Pro402Leu, NC_000019.9:g.41518773=, XM_005258569.1:c.1152+383C>T, NG_007929.1:g.26570C>T, XM_011526546.1:c.1205C>T, XM_005258571.1:c.694+53C>T, XM_005258570.1:c.1153-105C>T, NG_007929.1:g.26570=, 8192719, rs8192719, rs58710428, 58710428, NC_000019.10:g.41012868C>T, 61315206 +PA166155445 rs8192720 PA121 CYP2A6 NC_000019.10:40850405 2 1 0 0 0 NC_000019.9:g.41356310G>A, NC_000019.10:g.40850405=, NC_000019.9:g.41356310G>C, NG_008377.1:g.5043=, NG_008377.1:g.5043C>G, NG_055456.1:g.80G>A, NG_055456.1:g.80=, NM_000762.5:c.22C>T, NG_008377.1:g.5043C>T, XP_005258625.1:p.Leu8=, 8192720, NP_000753.3:p.Leu8Val, rs8192720, NC_000019.10:g.40850405G>A, NG_055456.1:g.80G>C, NP_000753.3:p.Leu8=, XM_005258568.1:c.22C>T, NC_000019.10:g.40850405G>C, NC_000019.9:g.41356310= +PA166155446 rs8192725 PA121 CYP2A6 NC_000019.10:40848807 2 1 0 0 0 NC_000019.9:g.41354712A>T, NG_008377.1:g.6641T>A, NG_008377.1:g.6641T>C, rs12973939, NC_000019.10:g.40848807=, NC_000019.10:g.40848807A>T, NC_000019.9:g.41354712=, rs8192725, NC_000019.9:g.41354712A>G, XM_005258568.1:c.191-44T>C, NG_008377.1:g.6641=, NM_000762.5:c.344-44T>C, NC_000019.10:g.40848807A>G, 8192725, 12973939 +PA166155447 rs8192726 PA121 CYP2A6 NC_000019.10:40848591 6 1 0 0 0 XM_005258568.1:c.340+23G>T, NC_000019.9:g.41354496C>A, 61203574, rs61203574, NC_000019.10:g.40848591=, NC_000019.9:g.41354496=, NG_008377.1:g.6857=, NG_008377.1:g.6857G>T, 8192726, rs8192726, NC_000019.10:g.40848591C>A, NM_000762.5:c.493+23G>T +PA166155448 rs8192730 PA121 CYP2A6 NC_000019.10:40844677 4 2 2 0 0 NP_000753.3:p.Glu419Asp, NC_000019.10:g.40844677=, XP_005258625.1:p.Glu368Asp, 57972661, NG_008377.1:g.10771=, rs57972661, NG_008377.1:g.10771G>C, NC_000019.10:g.40844677C>G, XM_005258568.1:c.1104G>C, NP_000753.3:p.Glu419=, rs8192730, 8192730, NC_000019.9:g.41350582=, NC_000019.9:g.41350582C>G, NM_000762.5:c.1257G>C +PA166176232 rs8192733 PA121 CYP2A6 NC_000019.10:40843645 1 0 0 0 0 8192733, NG_008377.1:g.11803=, rs8192733, NC_000019.9:g.41349550=, NC_000019.10:g.40843645G>C, 58764158, NC_000019.10:g.40843645=, NG_008377.1:g.11803C>G, NC_000019.9:g.41349550G>C +PA166154095 rs8192766 PA129 CYP2E1 NC_000010.11:133525881 1 0 0 0 0 NG_055447.1:g.2331T>G, NC_000010.10:g.135339385T>G, NC_000010.10:g.135339385=, NG_008383.1:g.3519T>G, NC_000010.11:g.133525881T>G, 60194829, 8192766, rs8192766, NM_000773.3:c.-1515T>G, XM_005252665.1:c.-972T>G, NG_055447.1:g.2331=, NG_008383.1:g.3519=, rs60194829, NC_000010.11:g.133525881= +PA166155450 rs8192789 PA27101 CYP2A13 NC_000019.10:41091846 2 0 0 0 0 NC_000019.10:g.41091846=, NP_000757.2:p.Arg257Ser, NG_007928.1:g.8384C>A, NP_000757.2:p.Arg257Cys, NM_000766.4:c.769C>T, NC_000019.10:g.41091846C>A, NG_007928.1:g.8384=, NC_000019.9:g.41597751=, NC_000019.9:g.41597751C>A, NG_007928.1:g.8384C>T, rs8192789, NC_000019.9:g.41597751C>T, NC_000019.10:g.41091846C>T, 8192789, NP_000757.2:p.Arg257= +PA166155088 rs8192924 PA377 CES2 NC_000016.10:66940496 1 0 0 0 0 NM_003869.5:c.809G>A, NC_000016.10:g.66940496G>A, NP_932327.1:p.Arg270His, XM_011523421.1:c.338G>A, NC_000016.9:g.66974399G>A, NP_003860.3:p.Arg206=, NM_198061.2:c.809G>A, NC_000016.9:g.66974399=, NP_003860.2:p.Arg270His, NR_036684.1:n.2047G>A, NP_003860.3:p.Arg206His, 8192924, NC_000016.10:g.66940496=, rs8192924, XP_011521723.1:p.Arg113His +PA166159104 rs8192935 PA107 CES1 NC_000016.10:55827882 4 1 0 0 0 NC_000016.9:g.55861794A>G, NC_000016.10:g.55827882A>G, NC_000016.9:g.55861794=, NC_000016.10:g.55827882=, NG_012057.1:g.10282T>C, NG_012057.1:g.10282=, 8192935, rs8192935 +PA166162295 rs8192950 PA107 CES1 NC_000016.10:55808492 1 1 0 0 0 rs8192950, 8192950, NG_012057.1:g.29672=, NC_000016.10:g.55808492=, NG_012057.1:g.29672A>C, NC_000016.9:g.55842404=, 74189333, NC_000016.10:g.55808492T>G, NC_000016.9:g.55842404T>G +PA166156294 rs822391 PA134933118 ADIPOQ NC_000003.12:186846014 1 0 0 0 0 NG_021140.1:g.8341C>A, NM_004797.3:c.-9+3265C>T, NG_044949.1:g.6105C>G, NC_000003.12:g.186846014C>T, NG_044949.1:g.6105C>T, rs59135918, NC_000003.12:g.186846014C>A, NC_000003.11:g.186563803=, NC_000003.11:g.186563803C>G, rs822391, NG_021140.1:g.8341C>G, NC_000003.12:g.186846014=, NC_000003.11:g.186563803C>A, NG_021140.1:g.8341=, NG_021140.1:g.8341C>T, 822391, NC_000003.12:g.186846014C>G, XM_011513324.1:c.-125+3265C>T, 59135918, NG_044949.1:g.6105C>A, NG_044949.1:g.6105=, NM_001177800.1:c.-9+407C>T, NC_000003.11:g.186563803C>T +PA166156295 rs822393 PA134933118 ADIPOQ NC_000003.12:186848537 1 0 0 0 0 NG_044949.1:g.8628=, NG_044949.1:g.8628C>A, 1656949, NC_000003.12:g.186848537C>T, NG_021140.1:g.10864=, NG_021140.1:g.10864C>T, NM_001177800.1:c.-9+2930C>T, NM_004797.3:c.-8-4514C>T, NC_000003.12:g.186848537=, rs822393, rs1656949, NC_000003.11:g.186566326C>T, XM_011513324.1:c.-124-2569C>T, NC_000003.12:g.186848537C>A, NG_044949.1:g.8628C>T, 822393, NC_000003.11:g.186566326C>A, NG_021140.1:g.10864C>A, NC_000003.11:g.186566326= +PA166156296 rs822396 PA134933118 ADIPOQ NC_000003.12:186849088 1 0 0 0 0 rs822396, NM_004797.3:c.-8-3963G>A, NG_021140.1:g.11415G>C, NG_021140.1:g.11415G>A, NC_000003.11:g.186566877G>C, NC_000003.11:g.186566877G>A, NM_001177800.1:c.-9+3481G>A, NG_021140.1:g.11415G>T, rs59131134, NC_000003.12:g.186849088=, NG_044949.1:g.9179=, 59131134, NC_000003.12:g.186849088G>C, NG_044949.1:g.9179G>T, NC_000003.12:g.186849088G>A, NG_021140.1:g.11415=, NC_000003.11:g.186566877=, 1656950, rs1656950, XM_011513324.1:c.-124-2018G>A, NC_000003.12:g.186849088G>T, NG_044949.1:g.9179G>C, NG_044949.1:g.9179G>A, NC_000003.11:g.186566877G>T, 822396 +PA166153591 rs822441 PA162399233 PEAR1 NC_000001.11:156913204 1 1 0 0 0 XM_011509508.1:c.2460G>C, XP_011507810.1:p.Pro820=, XM_011509508.1:c.2460G>A, XM_011509509.1:c.2460G>C, XP_011507811.1:p.Pro820=, XM_005245142.1:c.2241G>C, XM_011509509.1:c.2460G>A, XM_005245142.1:c.2241G>A, NC_000001.11:g.156913204G>T, XP_011507814.1:p.Pro642=, XP_005245198.1:p.Pro811=, XM_011509511.1:c.2328G>A, NC_000001.10:g.156882996G>T, NM_001080471.1:c.2433G>A, NP_001073940.1:p.Pro811=, NM_001080471.1:c.2433G>C, XM_005245141.2:c.2433G>A, XM_005245141.2:c.2433G>C, 822441, rs822441, XP_005245199.1:p.Pro747=, XM_006711302.2:c.2460G>C, XM_006711302.2:c.2460G>A, XP_011507812.1:p.Pro811=, XP_011507813.1:p.Pro776=, XM_011509510.1:c.2433G>C, XM_011509510.1:c.2433G>A, NC_000001.11:g.156913204G>A, NP_001340612.1:p.Pro747=, XM_011509512.1:c.1926G>A, XM_011509511.1:c.2328G>C, NC_000001.11:g.156913204=, NC_000001.11:g.156913204G>C, XM_011509512.1:c.1926G>C, NC_000001.10:g.156882996=, NC_000001.10:g.156882996G>A, XP_006711365.1:p.Pro820=, NC_000001.10:g.156882996G>C, XM_005245141.1:c.2433G>A, XM_005245141.1:c.2433G>C +PA166153592 rs822442 PA162399233 PEAR1 NC_000001.11:156913423 1 1 0 0 0 XP_005245198.1:p.Asn848Lys, XP_011507812.1:p.Asn848Lys, NM_001080471.1:c.2544C>A, NC_000001.11:g.156913423C>A, XM_011509511.1:c.2439C>A, XM_011509510.1:c.2544C>A, XP_006711365.1:p.Asn857Lys, NC_000001.10:g.156883215=, NC_000001.10:g.156883215C>T, XM_005245141.2:c.2544C>A, XM_006711302.2:c.2571C>A, XM_011509509.1:c.2571C>A, NC_000001.11:g.156913423=, XM_005245142.1:c.2352C>A, XM_011509508.1:c.2571C>A, NP_001340612.1:p.Asn784=, 822442, XP_011507810.1:p.Asn857Lys, NP_001073940.1:p.Asn848Lys, rs822442, XM_011509512.1:c.2037C>A, NP_001340612.1:p.Asn784Lys, XM_005245141.1:c.2544C>A, XP_011507814.1:p.Asn679Lys, XP_011507813.1:p.Asn813Lys, NC_000001.11:g.156913423C>T, XP_011507811.1:p.Asn857Lys, NC_000001.10:g.156883215C>A, XP_005245199.1:p.Asn784Lys +PA166154686 rs828199 NC_000013.11:90718584 1 0 0 0 0 NC_000013.11:g.90718584T>C, rs1616905, 1616905, rs828199, 1041254, NC_000013.11:g.90718584=, 828199, rs1041254, NC_000013.10:g.91370838T>C, NC_000013.10:g.91370838= +PA166203101 rs829074 PA396 ABCC9 NC_000012.12:21824001 1 0 0 0 0 NG_012819.1:g.117694A>G, rs829074, NC_000012.12:g.21824001T>C, 829074, NC_000012.11:g.21976935=, NC_000012.12:g.21824001=, NC_000012.11:g.21976935T>C, NG_012819.1:g.117694= +PA166156741 rs830884 PA29935 ITGA1 NC_000005.10:52724562 1 0 0 0 0 rs17293588, XR_948321.1:n.200-14318G>A, NC_000005.10:g.52724562=, 58032965, rs830884, NC_000005.9:g.52020396C>T, 830884, NC_000005.10:g.52724562C>G, rs58032965, 17293588, NC_000005.10:g.52724562C>A, NC_000005.9:g.52020396=, NC_000005.10:g.52724562C>T, NC_000005.9:g.52020396C>A, NC_000005.9:g.52020396C>G +PA166155584 rs8330 PA164720351,PA37173,PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 MROH2A,UGT1A,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233772999 8 3 0 0 0 NG_033238.1:g.17727=, NG_033238.1:g.17727G>A, NG_033238.1:g.17727G>C, 8330, NM_001072.3:c.*440G>C, NM_021027.2:c.*440G>C, NM_205862.1:c.*440G>C, NC_000002.11:g.234681645G>T, NG_051337.1:g.2338G>A, XR_241238.1:n.2235G>C, NG_051337.1:g.2338G>C, NG_002601.2:g.188256G>T, NC_000002.12:g.233772999G>C, NM_019076.4:c.*440G>C, NC_000002.12:g.233772999G>A, rs3182134, 35609787, rs57500970, NM_019077.2:c.*440G>C, 386496306, NM_007120.2:c.*440G>C, NM_019075.2:c.*440G>C, rs386496306, 3182134, NG_033238.1:g.17727G>T, 57500970, NM_019093.2:c.*440G>C, NC_000002.11:g.234681645=, NG_051337.1:g.2338=, NM_000463.2:c.*440G>C, rs35609787, NC_000002.12:g.233772999=, NC_000002.11:g.234681645G>A, NG_002601.2:g.188256=, rs8330, NG_002601.2:g.188256G>A, NC_000002.11:g.234681645G>C, NG_051337.1:g.2338G>T, NG_002601.2:g.188256G>C, NM_019078.1:c.*440G>C, NC_000002.12:g.233772999G>T +PA166156957 rs833058 NC_000006.12:43764117 1 0 0 0 0 rs58522910, 58522910, NC_000006.11:g.43731854C>G, rs833058, NC_000006.12:g.43764117C>T, NC_000006.11:g.43731854=, NC_000006.12:g.43764117C>G, NC_000006.12:g.43764117=, NC_000006.11:g.43731854C>T, 833058 +PA166156958 rs833061 PA37302 VEGFA NC_000006.12:43769749 18 1 0 0 0 NG_008732.1:g.4534=, NC_000006.11:g.43737486C>T, NM_001025367.2:c.-958C>T, NM_001025369.2:c.-958C>T, NM_001025368.2:c.-958C>T, NM_001171629.1:c.-1498C>T, NC_000006.11:g.43737486=, NM_001171627.1:c.-1498C>T, NC_000006.12:g.43769749=, NM_001171628.1:c.-1498C>T, NM_001025366.2:c.-958C>T, NM_001171622.1:c.-958C>T, NM_001171630.1:c.-1498C>T, NM_001204384.1:c.-1498C>T, NM_001033756.2:c.-958C>T, 833061, 36208046, NM_001171623.1:c.-1498C>T, NM_001317010.1:c.-1498C>T, 60746584, NM_001025370.2:c.-958C>T, NM_001171624.1:c.-1498C>T, NM_001204385.1:c.-958C>T, NC_000006.12:g.43769749C>T, NM_001171626.1:c.-1498C>T, NM_001171625.1:c.-1498C>T, NC_000006.12:g.43769749C>G, NG_008732.1:g.4534C>T, rs36208046, NM_003376.5:c.-958C>T, NC_000006.11:g.43737486C>G, rs833061, rs60746584, NG_008732.1:g.4534C>G +PA166156959 rs833062 PA37302 VEGFA NC_000006.12:43769792 1 0 0 0 0 NM_001171623.1:c.-1455T>C, NM_001171624.1:c.-1455T>C, NM_001204384.1:c.-1455T>C, NM_001171625.1:c.-1455T>C, NM_001171629.1:c.-1455T>C, NC_000006.12:g.43769792=, NM_001171628.1:c.-1455T>C, NM_001033756.2:c.-915T>C, NM_001171626.1:c.-1455T>C, NM_001025370.2:c.-915T>C, NM_001171627.1:c.-1455T>C, NG_008732.1:g.4577T>C, NM_001317010.1:c.-1455T>C, NC_000006.11:g.43737529T>C, NM_001025368.2:c.-915T>C, NM_001025369.2:c.-915T>C, 833062, NM_001171630.1:c.-1455T>C, NG_008732.1:g.4577=, NM_003376.5:c.-915T>C, NC_000006.11:g.43737529=, NM_001025366.2:c.-915T>C, NM_001025367.2:c.-915T>C, NM_001204385.1:c.-915T>C, NM_001171622.1:c.-915T>C, NC_000006.12:g.43769792T>C, rs833062 +PA166170295 rs833068 PA37302 VEGFA NC_000006.12:43774790 1 0 0 0 0 NC_000006.12:g.43774790G>A, NG_008732.1:g.9575G>A, rs833068, 3778494, NG_008732.1:g.9575=, NC_000006.11:g.43742527G>A, NC_000006.11:g.43742527=, 60553704, NC_000006.12:g.43774790=, 52820538, 16896789, 833068 +PA166156960 rs833069 PA37302 VEGFA NC_000006.12:43774842 6 1 0 0 0 NM_001171626.1:c.118+450T>C, NM_001025369.2:c.658+450T>C, 386616780, NM_001033756.2:c.658+450T>C, NC_000006.12:g.43774842=, NC_000006.11:g.43742579T>C, NG_008732.1:g.9627T>C, NM_001171625.1:c.118+450T>C, NC_000006.11:g.43742579T>G, NM_003376.5:c.658+450T>C, NG_008732.1:g.9627=, NM_001204385.1:c.658+450T>C, NM_001171627.1:c.118+450T>C, 1612658, NM_001025368.2:c.658+450T>C, rs1612658, NM_001171622.1:c.658+450T>C, NM_001171624.1:c.118+450T>C, NM_001171628.1:c.118+450T>C, NM_001204384.1:c.118+450T>C, NM_001025370.2:c.658+450T>C, NM_001171623.1:c.118+450T>C, 61226611, NC_000006.11:g.43742579=, NM_001025367.2:c.658+450T>C, XM_005249363.1:c.34+450T>C, NM_001171629.1:c.118+450T>C, 833069, rs3778495, 3778495, rs61226611, rs833069, NC_000006.12:g.43774842T>G, NG_008732.1:g.9627T>G, NC_000006.12:g.43774842T>C, NM_001025366.2:c.658+450T>C, NM_001171630.1:c.118+450T>C, NM_001287044.1:c.34+450T>C, NM_001317010.1:c.118+450T>C, rs386616780 +PA166179289 rs834576 NC_000006.12:44238042 1 1 0 0 0 56883904, NC_000006.11:g.44205779=, NC_000006.12:g.44238042C>A, rs834576, NC_000006.12:g.44238042=, NC_000006.11:g.44205779C>A, 834576 +PA166156492 rs835309 PA37186 UGT2B10 NC_000004.12:68817137 1 0 0 0 0 NC_000004.11:g.69682855T>G, 11566519, 118052298, NC_000004.12:g.68817137T>A, rs11566519, rs835309, rs118052298, NC_000004.11:g.69682855=, 116010004, NM_001144767.2:c.466+652T>G, rs116010004, NC_000004.12:g.68817137T>G, 835309, NC_000004.11:g.69682855T>A, NM_001075.5:c.718+400T>G, NT_167250.2:g.393156T>G, NT_167250.1:g.395106T>G, NC_000004.12:g.68817137=, NM_001290091.1:c.-26-892T>G +PA166160419 rs836554 NC_000007.14:6405604 1 0 0 0 0 386484603, 56752907, NG_029431.1:g.36110C>T, 10352615, 836554, NG_029431.1:g.36110=, rs836554, NC_000007.13:g.6445235C>T, NC_000007.13:g.6445235=, 56650388, 1720959, NC_000007.14:g.6405604C>T, 57709273, NC_000007.14:g.6405604= +PA166153593 rs841698 PA158 F3 NC_000001.11:94552963 1 0 0 0 0 NC_000001.10:g.95018519T>A, rs59032140, 841698, rs1098847, NC_000001.11:g.94552963=, NC_000001.11:g.94552963T>C, 1098847, NC_000001.10:g.95018519T>G, NC_000001.10:g.95018519T>C, NC_000001.11:g.94552963T>A, 59032140, rs841698, NC_000001.11:g.94552963T>G, rs9432503, NC_000001.10:g.95018519=, 9432503 +PA166154505 rs841718 PA339 STAT6 NC_000012.12:57099213 2 0 0 0 0 NG_021272.1:g.17201=, 3917004, NC_000012.11:g.57492996G>A, NM_003153.4:c.1891+81C>T, rs3917004, 841718, XM_011538708.1:c.1615+81C>T, XM_011538705.1:c.1945+81C>T, NM_001178079.1:c.1891+81C>T, NG_021272.1:g.17201C>T, NC_000012.12:g.57099213=, NC_000012.11:g.57492996=, XM_011538709.1:c.1615+81C>T, NR_033659.1:n.2058+81C>T, XM_011538706.1:c.1945+81C>T, rs386617022, NM_001178080.1:c.1561+81C>T, NM_001178078.1:c.1891+81C>T, 386617022, XM_006719574.1:c.1891+81C>T, XM_011538703.1:c.1945+81C>T, 17547143, 57646461, XM_011538707.1:c.1945+81C>T, NM_001178081.1:c.1561+81C>T, NG_021272.2:g.37927C>T, NC_000012.12:g.57099213G>A, XM_006719575.1:c.1891+81C>T, rs17547143, rs57646461, NG_021272.2:g.37927=, XM_011538704.1:c.1945+81C>T, rs841718 +PA166153594 rs841844 PA35875 SLC2A1 NC_000001.11:42921631 1 0 0 0 0 841844, rs841844, rs16830049, NC_000001.10:g.43387302C>T, NC_000001.11:g.42921631C>T, NC_000001.10:g.43387302C>G, rs61169964, 16830049, NC_000001.11:g.42921631C>G, 61169964, NC_000001.11:g.42921631=, NC_000001.10:g.43387302= +PA166233201 rs842647 PA34321 REL NC_000002.12:60892336 1 0 0 0 0 842647, 2568373, rs842647, NC_000002.11:g.61119471=, 35497514, NC_000002.12:g.60892336G>A, 59151312, NC_000002.11:g.61119471G>A, NC_000002.12:g.60892336= +PA166155602 rs843748 PA24500 ACYP2 NC_000002.12:54275775 1 0 0 0 0 843748, 52818984, NC_000002.11:g.54502912=, 1617222, rs1617222, 58011720, NC_000002.11:g.54502912G>A, rs17268388, NM_138448.3:c.186-28913G>A, rs52818984, 17268388, NC_000002.12:g.54275775=, rs843748, NC_000002.12:g.54275775G>A, rs58011720, XR_940091.1:n.214+2569C>T +PA166163444 rs8450 PA142672073,PA142671629 CRTC2,DENND4B NC_000001.11:153947810 6 1 0 0 0 NC_000001.11:g.153947810=, NC_000001.10:g.153920286=, NC_000001.11:g.153947810G>T, 3811456, NC_000001.10:g.153920286G>T, NC_000001.11:g.153947810G>A, NC_000001.10:g.153920286G>A, 8450, 3192274, rs8450 +PA166157268 rs846664 PA37931 TAS2R16 NC_000007.14:122995119 1 1 0 0 0 NG_011980.1:g.5582T>G, rs52807346, rs60318342, rs846664, rs10441367, NP_058641.1:p.Asn172=, NC_000007.14:g.122995119=, NC_000007.13:g.122635173A>C, NC_000007.13:g.122635173=, NC_000007.14:g.122995119A>C, 60318342, 52807346, 10441367, NM_016945.2:c.516T>G, NP_058641.1:p.Asn172Lys, 846664, NG_011980.1:g.5582= +PA166153595 rs846908 PA29476 HSD11B1 NC_000001.11:209685108 1 1 0 0 0 NG_012081.1:g.3904A>G, 846908, 58160156, NC_000001.10:g.209858453=, NC_000001.10:g.209858453A>G, XR_922542.1:n.3235-8575T>C, NM_001206741.1:c.-1226A>G, XR_922549.1:n.125-22047T>C, rs846908, NR_134510.1:n.67-22047T>C, NC_000001.11:g.209685108A>G, NM_181755.2:c.-1204A>G, rs58160156, XR_922547.1:n.3091-22047T>C, NG_012081.1:g.3904=, NC_000001.11:g.209685108=, NR_134509.1:n.97-22047T>C, XR_922543.1:n.3226-22047T>C, XR_922539.1:n.2793T>C +PA166153596 rs846910 PA29476 HSD11B1 NC_000001.11:209701909 1 1 0 0 0 NC_000001.10:g.209875254=, NM_181755.2:c.-26-3008A>G, XR_922549.1:n.125-38848T>C, NC_000001.10:g.209875254A>T, NG_012081.1:g.20705A>G, 3753520, rs3753520, NG_012081.1:g.20705A>C, NC_000001.11:g.209701909A>T, rs57254759, NM_001206741.1:c.-48-2986A>G, 846910, NC_000001.11:g.209701909A>G, NG_012081.1:g.20705A>T, NC_000001.11:g.209701909A>C, XR_922547.1:n.3091-38848T>C, NC_000001.11:g.209701909=, NR_134510.1:n.67-38848T>C, 57254759, rs846910, NR_134509.1:n.96+22121T>C, XR_922542.1:n.3234+22121T>C, NC_000001.10:g.209875254A>C, NC_000001.10:g.209875254A>G, NG_012081.1:g.20705=, XR_922543.1:n.3225+22121T>C +PA166162770 rs848 PA199 IL13 NC_000005.10:132660808 1 0 0 0 0 rs848, NC_000005.10:g.132660808A>C, NG_012090.1:g.7636A>C, NC_000005.10:g.132660808A>G, NG_012090.1:g.7636A>G, NC_000005.10:g.132660808=, NC_000005.9:g.131996500A>G, 59327150, NC_000005.9:g.131996500A>C, 848, NG_012090.1:g.7636=, NC_000005.9:g.131996500= +PA166156742 rs852977 PA181 NR3C1 NC_000005.10:143307929 1 0 0 0 0 XM_005268421.1:c.1471+2168T>C, NC_000005.9:g.142687494=, XM_005268425.1:c.1390+2168T>C, NM_001018075.1:c.1468+2168T>C, XM_005268420.1:c.1471+2168T>C, rs60035009, XM_005268426.1:c.1354+6070T>C, NM_001204260.1:c.1201+2168T>C, NC_000005.10:g.143307929=, NG_009062.1:g.132584T>C, NC_000005.10:g.143307929A>G, NM_001018074.1:c.1468+2168T>C, NM_001204262.1:c.523+2168T>C, 60035009, XM_005268419.1:c.1471+2168T>C, NM_001018077.1:c.1468+2168T>C, NM_001204258.1:c.1390+2168T>C, XM_005268419.2:c.1471+2168T>C, rs852977, NM_001204264.1:c.463+2168T>C, XM_005268427.1:c.277+2168T>C, XM_005268422.2:c.1471+2168T>C, XM_005268423.1:c.1471+2168T>C, NM_001204259.1:c.1213+2168T>C, XM_005268423.2:c.1471+2168T>C, XM_005268424.1:c.1471+2168T>C, NM_001020825.1:c.1468+2168T>C, rs3776215, 3776215, NC_000005.9:g.142687494A>G, NM_001204261.1:c.1177+2168T>C, NM_001204263.1:c.478+2168T>C, NM_001204265.1:c.1468+2168T>C, XM_011537637.1:c.277+2168T>C, XM_005268420.3:c.1471+2168T>C, XM_005268422.1:c.1471+2168T>C, NM_001018076.1:c.1468+2168T>C, 852977, NM_001024094.1:c.1471+2168T>C, NG_009062.1:g.132584=, NM_000176.2:c.1468+2168T>C +PA166157269 rs854547 PA33529,PA33661 PON1,PPP1R9A NC_000007.14:95294544 1 1 0 0 0 NM_001166161.1:c.*4241G>A, NM_001166160.1:c.*4241G>A, NM_001166162.1:c.*4241G>A, rs59778906, rs854547, NC_000007.13:g.94923856G>A, NC_000007.14:g.95294544G>T, XM_011516381.1:c.*4241G>A, XM_011516391.1:c.*4241G>A, NM_001166163.1:c.*4241G>A, XM_011516382.1:c.*4241G>A, 56572618, 854547, XM_011516380.1:c.*4241G>A, XM_011516392.1:c.*4241G>A, NC_000007.14:g.95294544G>A, 59778906, XM_011516393.1:c.*4241G>A, NC_000007.14:g.95294544G>C, NC_000007.13:g.94923856G>C, XM_011516394.1:c.*4241G>A, XM_005250485.1:c.*4241G>A, rs56572618, NC_000007.14:g.95294544=, NC_000007.13:g.94923856=, NG_015803.1:g.391908G>T, NC_000007.13:g.94923856G>T, NG_015803.1:g.391908=, NG_015803.1:g.391908G>C, XM_011516390.1:c.*4241G>A, XM_011516385.1:c.*4241G>A, XM_011516383.1:c.*4241G>A, NG_015803.1:g.391908G>A, XM_011516384.1:c.*4241G>A, XM_011516389.1:c.*4241G>A, NM_017650.2:c.*4241G>A, XM_011516388.1:c.*4241G>A, XM_011516387.1:c.*4241G>A, XM_011516386.1:c.*4241G>A +PA166157270 rs854548 PA33529,PA33661 PON1,PPP1R9A NC_000007.14:95296508 1 1 0 0 0 rs58151533, NM_017650.2:c.*6205A>G, NG_015803.1:g.393872A>C, rs854548, NC_000007.14:g.95296508=, XM_011516389.1:c.*6205A>G, XM_011516387.1:c.*6205A>G, XM_011516386.1:c.*6205A>G, NC_000007.13:g.94925820A>T, XM_011516385.1:c.*6205A>G, XM_011516388.1:c.*6205A>G, XM_005250485.1:c.*6205A>G, XM_011516380.1:c.*6205A>G, 854548, NG_015803.1:g.393872=, XM_011516381.1:c.*6205A>G, 58151533, XM_011516383.1:c.*6205A>G, NG_008779.2:g.33199=, NG_008779.1:g.33065T>C, XM_011516384.1:c.*6205A>G, NC_000007.14:g.95296508A>G, NG_008779.2:g.33199T>C, NG_008779.2:g.33199T>A, NC_000007.14:g.95296508A>C, XM_011516382.1:c.*6205A>G, NG_015803.1:g.393872A>G, NM_001166161.1:c.*6205A>G, NM_001166160.1:c.*6205A>G, NG_008779.2:g.33199T>G, NC_000007.13:g.94925820A>C, XM_011516393.1:c.*6205A>G, XM_011516394.1:c.*6205A>G, NC_000007.14:g.95296508A>T, NG_015803.1:g.393872A>T, XM_011516392.1:c.*6205A>G, XM_011516391.1:c.*6205A>G, NC_000007.13:g.94925820A>G, NM_001166162.1:c.*6205A>G, NC_000007.13:g.94925820=, XM_011516390.1:c.*6205A>G, rs2106950, 2106950, NM_001166163.1:c.*6205A>G +PA166157271 rs854552 PA33529 PON1 NC_000007.14:95298612 2 0 0 0 0 NC_000007.13:g.94927924C>A, NC_000007.14:g.95298612C>T, NG_008779.2:g.31095G>T, 854552, NC_000007.14:g.95298612=, NM_000446.5:c.*332G>A, NC_000007.14:g.95298612C>A, NG_008779.1:g.30961G>A, NG_008779.2:g.31095G>A, NC_000007.13:g.94927924C>T, NG_008779.2:g.31095G>C, rs854552, NC_000007.14:g.95298612C>G, NC_000007.13:g.94927924=, NG_008779.2:g.31095=, NC_000007.13:g.94927924C>G +PA166157272 rs854555 PA33529,PA33661 PON1,PPP1R9A NC_000007.14:95301079 1 1 0 0 0 NC_000007.13:g.94930391=, NG_008779.1:g.28494T>G, rs10337337, rs61430799, 10337337, 386617536, 854555, NC_000007.14:g.95301079A>C, NC_000007.13:g.94930391A>C, 61430799, NC_000007.14:g.95301079=, rs386617536, NG_008779.2:g.28628=, NG_008779.2:g.28628T>G, rs854555, NM_000446.5:c.909+1126T>G +PA166157273 rs854560 PA33529 PON1 NC_000007.14:95316772 9 0 0 0 0 rs3202100, 3179555, rs3179555, NG_008779.1:g.12801T>A, NP_000437.3:p.Leu55Met, rs117860432, NC_000007.14:g.95316772A>T, NG_008779.2:g.12935T>N, NP_000437.3:p.Leu55Xaa, rs1138340, NP_000437.3:p.Leu55Val, 57937067, NC_000007.13:g.94946084A>C, 3202100, NG_008779.2:g.12935=, 1138340, NC_000007.13:g.94946084A>G, NC_000007.13:g.94946084A>N, NP_000437.3:p.Leu55=, rs57937067, NC_000007.14:g.95316772A>C, NC_000007.13:g.94946084A>T, rs2228157, 2228157, 854560, 11567862, 117860432, NC_000007.14:g.95316772A>N, NC_000007.14:g.95316772=, rs17434839, NG_008779.2:g.12935T>G, 1801051, NC_000007.14:g.95316772A>G, NM_000446.5:c.163T>A, NG_008779.2:g.12935T>C, rs854560, 17434839, NG_008779.2:g.12935T>A, NC_000007.13:g.94946084=, rs11567862, rs1801051 +PA166157274 rs854565 PA33529 PON1 NC_000007.14:95319032 1 0 0 0 0 NG_008779.2:g.10675T>G, NC_000007.13:g.94948344A>G, NC_000007.13:g.94948344=, NG_008779.2:g.10675T>A, NC_000007.14:g.95319032A>C, NG_008779.2:g.10675T>C, 59748292, NC_000007.13:g.94948344A>C, NC_000007.14:g.95319032A>G, 854565, rs59748292, NC_000007.13:g.94948344A>T, NG_008779.1:g.10541T>C, NM_000446.5:c.75-639T>C, NC_000007.14:g.95319032A>T, NC_000007.14:g.95319032=, NG_008779.2:g.10675=, rs854565 +PA166157275 rs854568 PA33529 PON1 NC_000007.14:95320489 1 0 0 0 0 rs854568, NG_008779.2:g.9218C>T, rs56650542, rs60479076, NC_000007.14:g.95320489=, NC_000007.14:g.95320489G>A, NG_008779.2:g.9218=, 854568, 56650542, NG_008779.1:g.9084C>T, NC_000007.13:g.94949801G>A, NC_000007.13:g.94949801=, 60479076, NM_000446.5:c.75-2096C>T +PA166157276 rs854572 PA33529 PON1 NC_000007.14:95325384 1 0 0 0 0 NG_008779.2:g.4323G>C, NC_000007.13:g.94954696C>G, rs57313907, NC_000007.14:g.95325384C>G, NG_008779.1:g.4189G>C, NG_008779.2:g.4323=, NC_000007.13:g.94954696=, 854572, 57313907, NM_000446.5:c.-909G>C, NC_000007.14:g.95325384=, rs854572 +PA166157277 rs854573 PA33529 PON1 NC_000007.14:95325551 1 0 0 0 0 NM_000446.5:c.-1076G>A, 854573, rs10365349, 57970591, NC_000007.14:g.95325551C>G, NC_000007.13:g.94954863=, NG_008779.2:g.4156G>C, NC_000007.13:g.94954863C>G, NG_008779.1:g.4022G>A, rs57970591, 10365349, NG_008779.2:g.4156=, rs854573, NC_000007.14:g.95325551C>T, NC_000007.13:g.94954863C>T, NC_000007.14:g.95325551=, NG_008779.2:g.4156G>A +PA166157278 rs860170 PA37931 TAS2R16 NC_000007.14:122994970 1 0 0 0 0 rs10441366, NC_000007.14:g.122994970C>T, rs52808112, 860170, NC_000007.13:g.122635024=, rs860170, 59417867, 52808112, NM_016945.2:c.665G>A, NG_011980.1:g.5731=, 10441366, NP_058641.1:p.Arg222=, NP_058641.1:p.Arg222His, rs59417867, NC_000007.14:g.122994970=, NG_011980.1:g.5731G>A, NC_000007.13:g.122635024C>T +PA166154768 rs861539 PA162393424,PA37422 KLC1,XRCC3 NC_000014.9:103699416 6 2 0 0 0 XM_005267604.1:c.1857-1239G>A, XM_005267610.1:c.*46-1239G>A, 1734804, rs1734804, 56934996, XM_005268046.1:c.722C>T, XM_005267599.1:c.1924-1239G>A, NP_001093589.1:p.Thr241Met, NM_001100118.1:c.722C>T, NM_182923.3:c.1651-1239G>A, XM_005267615.1:c.1726-1239G>A, NC_000014.8:g.104165753G>A, 861539, NP_001093588.1:p.Thr241Met, 3212111, XM_005267600.1:c.*17-1239G>A, XM_005267603.1:c.*17-1239G>A, rs17850783, 17435402, XM_005267618.1:c.*17-1239G>A, XM_005267612.1:c.*17-1239G>A, XP_011535440.1:p.Thr241Met, XM_011537138.1:c.722C>T, XP_005268102.1:p.Thr241Met, 17850783, XM_005267606.1:c.*17-1239G>A, XM_005267614.1:c.1755-1239G>A, NM_005432.3:c.722C>T, NG_011516.1:g.21071=, NG_012307.1:g.75229G>A, rs56934996, NP_005423.1:p.Thr241Met, XM_005267616.1:c.*17-1239G>A, XP_005268103.1:p.Thr241Met, rs861539, NM_001130107.1:c.1782-1239G>A, XM_005268045.1:c.722C>T, XM_005267602.1:c.1897-1239G>A, XM_005267608.1:c.1825-1239G>A, NM_001100119.1:c.722C>T, XM_005267624.1:c.1624-1239G>A, rs17435402, NG_011516.1:g.21071C>T, NC_000014.9:g.103699416=, rs3212111, NG_012307.1:g.75229=, NC_000014.9:g.103699416G>A, XM_005267605.1:c.1849-1239G>A, XM_005267607.1:c.1830-1239G>A, XM_005267613.1:c.1758-1239G>A, NC_000014.8:g.104165753=, XP_005268104.1:p.Thr241Met, XM_005267609.1:c.1822-1239G>A, XM_005267617.1:c.1699-1239G>A, NP_005423.1:p.Thr241=, XM_005268047.1:c.722C>T +PA166170026 rs863221 PA31134 MSH3 NC_000005.10:80746456 1 0 0 0 0 NC_000005.10:g.80746456T>C, NG_016607.1:g.96982T>G, NC_000005.10:g.80746456T>G, NG_016607.1:g.96982T>C, NC_000005.9:g.80042275T>G, NG_016607.1:g.96982=, NC_000005.9:g.80042275T>C, 17272410, 3756633, NC_000005.9:g.80042275=, rs863221, NG_016607.2:g.96982=, NG_016607.2:g.96982T>G, NG_016607.2:g.96982T>C, NC_000005.10:g.80746456=, 863221 +PA166177727 rs8636 PA35980 SNAP25 NC_000020.11:10307094 1 0 0 0 0 NC_000020.11:g.10307094T>A, 57008212, NC_000020.11:g.10307094T>C, NG_029626.1:g.93266T>C, 3191753, NG_029626.1:g.93266T>A, 17442726, NC_000020.10:g.10287742=, rs8636, 59788892, NC_000020.10:g.10287742T>A, NC_000020.10:g.10287742T>C, 8636, NC_000020.11:g.10307094=, NG_029626.1:g.93266= +PA166155168 rs865429 PA37809 SOST NC_000017.11:43757847 1 0 0 0 0 NC_000017.11:g.43757847=, NC_000017.11:g.43757847G>A, NM_025237.2:c.220+675C>T, 865429, 60781295, 386617888, NC_000017.10:g.41835215G>A, NC_000017.10:g.41835215=, rs865429, rs386617888, NG_008078.2:g.5942C>T, rs60781295, NG_008078.2:g.5942= +PA166307583 rs865996769 PA390 ABCG2 NC_000004.12:88092263 1 0 0 0 0 NC_000004.12:g.88092263T>C, rs865996769, NP_004818.2:p.Lys647=, NP_004818.2:p.Lys647Glu, NC_000004.11:g.89013415T>C, NC_000004.12:g.88092263=, NG_032067.2:g.144060A>G, 865996769, NG_032067.2:g.144060=, NC_000004.11:g.89013415= +PA166185682 rs866236 NC_000006.12:43759219 1 0 0 0 0 NC_000006.12:g.43759219T>A, NC_000006.11:g.43726956T>G, NC_000006.12:g.43759219=, NC_000006.11:g.43726956T>C, 1761773, NC_000006.11:g.43726956T>A, rs866236, 59711662, NC_000006.12:g.43759219T>G, 866236, NC_000006.11:g.43726956=, NC_000006.12:g.43759219T>C +PA166181237 rs8667 PA25090 ATF5 NC_000019.10:49933114 2 0 0 0 0 NG_023448.1:g.1618C>G, NG_023448.1:g.1618=, 8667, NC_000019.9:g.50436371=, NG_021170.1:g.1392C>T, NC_000019.9:g.50436371G>A, NG_021170.1:g.1392=, NC_000019.9:g.50436371G>C, NC_000019.10:g.49933114=, 118042983, NG_023448.1:g.1618C>T, NC_000019.10:g.49933114G>C, rs8667, NC_000019.10:g.49933114G>A, NG_021170.1:g.1392C>G +PA166153955 rs867687 NC_000010.11:49669219 1 0 0 0 0 NC_000010.11:g.49669219=, 57749718, rs17775798, NC_000010.11:g.49669219A>G, rs867687, NC_000010.10:g.50877265=, rs57749718, 17775798, NC_000010.10:g.50877265A>G, 867687 +PA166177340 rs867858 PA28587 GATA4 NC_000008.11:11758829 1 0 0 0 0 867858, NG_008177.2:g.86911A>C, 58961107, NC_000008.10:g.11616338A>C, NC_000008.11:g.11758829=, NC_000008.11:g.11758829A>C, NG_008177.2:g.86911A>T, NG_008177.2:g.86911=, rs867858, 386617969, NC_000008.10:g.11616338=, NC_000008.10:g.11616338A>T, NC_000008.11:g.11758829A>T +PA166183299 rs868182778 PA126 CYP2C9 NC_000010.11:94989023 1 0 0 0 0 NG_008385.2:g.55866=, rs868182778, NG_008385.1:g.55366=, NC_000010.11:g.94989023G>T, NC_000010.10:g.96748780=, NG_008385.1:g.55366G>T, 868182778, NC_000010.11:g.94989023=, NP_000762.2:p.Val490Phe, NC_000010.10:g.96748780G>T, NG_008385.2:g.55866G>T, NP_000762.2:p.Val490= +PA166159075 rs868589 PA24507 ADAM12 NC_000010.11:126313439 1 0 0 0 0 NC_000010.10:g.128002008=, 61279659, NC_000010.10:g.128002008T>C, rs868589, NC_000010.11:g.126313439T>A, NC_000010.10:g.128002008T>A, NC_000010.11:g.126313439T>C, NG_029050.1:g.80120A>T, NC_000010.11:g.126313439=, NG_029050.1:g.80120A>G, 17685480, 868589, NG_029050.1:g.80120= +PA166157279 rs868755 PA267 ABCB1 NC_000007.14:87560614 3 0 0 0 0 NC_000007.14:g.87560614=, NM_000927.4:c.827+649A>C, NG_011513.1:g.157635A>T, NC_000007.14:g.87560614T>G, rs868755, 10358632, 386618038, NG_011513.1:g.157635A>G, NC_000007.13:g.87189930T>A, NG_011513.1:g.157635A>C, rs386618038, NC_000007.13:g.87189930T>C, NC_000007.14:g.87560614T>C, NG_011513.1:g.157635=, NC_000007.14:g.87560614T>A, NC_000007.13:g.87189930T>G, NC_000007.13:g.87189930=, rs10358632, 868755 +PA166154687 rs868853 PA397 ABCC4 NC_000013.11:95302822 1 0 0 0 0 386618045, rs868853, NG_050651.1:g.3625=, XM_006719914.1:c.-1508G>A, NC_000013.10:g.95955076C>G, NC_000013.10:g.95955076=, XR_931650.1:n.752+757C>T, NG_050651.1:g.3625G>C, NG_050651.1:g.3625G>A, NC_000013.10:g.95955076C>A, NC_000013.11:g.95302822=, NC_000013.11:g.95302822C>G, NC_000013.11:g.95302822C>A, NM_005845.4:c.-1508G>A, rs57110980, NG_050651.1:g.3625G>T, NC_000013.10:g.95955076C>T, NC_000013.11:g.95302822C>T, XM_005254028.1:c.-1508G>A, NM_001105515.2:c.-1508G>A, XR_429273.2:n.1009+496C>T, rs386618045, 57110980, NM_001301830.1:c.-1508G>A, NM_001301829.1:c.-1508G>A, XM_005254027.1:c.-1508G>A, 868853, XM_005254026.1:c.-1508G>A +PA166157715 rs868856 PA134886513 MOB3B NC_000009.12:27489253 1 1 0 0 0 NC_000009.12:g.27489253A>G, 386618047, NM_024761.4:c.-198-33505T>C, 16911552, NC_000009.11:g.27489251=, rs57763195, NC_000009.12:g.27489253=, NC_000009.11:g.27489251A>G, rs868856, rs16911552, XM_005251580.1:c.573-33505T>C, rs386618047, 57763195, 868856 +PA166185911 rs869312136 PA28707,PA162391316 GLA,HNRNPH2 NC_000023.11:101407806 1 1 0 0 0 NP_000160.1:p.Asp33Gly, 869312136, NG_007119.1:g.5158=, NG_007119.1:g.5158A>G, NP_000160.1:p.Asp33=, NC_000023.10:g.100662794=, rs869312136, NC_000023.11:g.101407806=, NC_000023.10:g.100662794T>C, NG_016327.1:g.4604=, NG_016327.1:g.4604T>C, NC_000023.11:g.101407806T>C +PA166185914 rs869312138 PA28707,PA162391316 GLA,HNRNPH2 NC_000023.11:101407797 1 1 0 0 0 869312138, NC_000023.11:g.101407797=, NP_000160.1:p.Leu36Trp, NG_016327.1:g.4595=, NG_007119.1:g.5167=, NP_000160.1:p.Leu36=, NC_000023.10:g.100662785=, NG_016327.1:g.4595A>C, NG_007119.1:g.5167T>G, NC_000023.10:g.100662785A>C, rs869312138, NC_000023.11:g.101407797A>C +PA166185917 rs869312146 PA28707 GLA NC_000023.11:101400744 1 1 0 0 0 NC_000023.10:g.100655732C>T, NG_007119.1:g.12220G>A, NG_007119.1:g.12220=, NP_000160.1:p.Met187=, NP_000160.1:p.Met187Ile, 869312146, NC_000023.11:g.101400744C>T, rs869312146, NC_000023.11:g.101400744=, NC_000023.10:g.100655732= +PA166185907 rs869312399 PA28707 GLA NC_000023.11:101398810 1 1 0 0 0 NC_000023.11:g.101398810=, NC_000023.11:g.101398810G>A, NC_000023.11:g.101398810G>C, NG_007119.1:g.14154C>T, NP_000160.1:p.Pro259Leu, NP_000160.1:p.Pro259=, NP_000160.1:p.Pro259Arg, NG_007119.1:g.14154C>G, NC_000023.10:g.100653798=, NC_000023.10:g.100653798G>A, 869312399, NG_007119.1:g.14154=, rs869312399, NC_000023.10:g.100653798G>C +PA166156297 rs870995 PA33308 PIK3CA NC_000003.12:179195218 1 1 0 0 0 870995, NC_000003.11:g.178913006=, NC_000003.11:g.178913006C>A, rs59793299, 59793299, NG_012113.2:g.51696C>A, NM_006218.2:c.-76-3532C>A, XM_006713658.2:c.-76-3532C>A, XM_011512894.1:c.-76-3532C>A, NC_000003.12:g.179195218=, rs870995, NC_000003.12:g.179195218C>A, NG_012113.2:g.51696= +PA166155603 rs871514 PA37174,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233719883 1 0 0 0 0 58866400, NM_019077.2:c.855+37091T>C, NM_019075.2:c.856-47151T>C, 61099298, NC_000002.12:g.233719883T>C, NM_019076.4:c.856-47151T>C, rs61099298, rs386618255, NC_000002.11:g.234628529T>C, NM_205862.1:c.60+26018T>C, NM_007120.2:c.867+196T>C, 386618255, NC_000002.11:g.234628529=, rs871514, NG_002601.2:g.135140T>C, NM_001072.3:c.861+26018T>C, 871514, rs58866400, XR_241241.1:n.941+47094T>C, NM_019078.1:c.867+6025T>C, XR_241238.1:n.923+196T>C, NM_021027.2:c.855+47094T>C, XR_241240.1:n.1022+26018T>C, NC_000002.12:g.233719883=, NG_002601.2:g.135140= +PA166156494 rs871606 PA26466 CHIC2 NC_000004.12:53933078 2 0 0 0 0 NC_000004.12:g.53933078=, NC_000004.11:g.54799245T>G, NC_000004.12:g.53933078T>G, 386618263, NC_000004.12:g.53933078T>C, 871606, 56709691, rs56709691, rs871606, NC_000004.11:g.54799245=, NC_000004.11:g.54799245T>C, rs386618263 +PA166170010 rs873601 PA27851 ERCC5 NC_000013.11:102875987 1 0 0 0 0 NG_007146.1:g.35164=, NC_000013.10:g.103528337G>A, rs873601, 3742282, NC_000013.10:g.103528337=, NC_000013.10:g.103528337G>C, NC_000013.11:g.102875987=, NC_000013.11:g.102875987G>A, 873601, NG_007146.1:g.35164G>A, NC_000013.11:g.102875987G>C, NG_007146.1:g.35164G>C +PA166155605 rs874295 PA30451 LRP1B NC_000002.12:141731023 1 0 0 0 0 NC_000002.12:g.141731023G>T, NC_000002.11:g.142488592=, XM_011511352.1:c.316+79256C>T, NC_000002.12:g.141731023=, NM_018557.2:c.205+79256C>T, NC_000002.11:g.142488592G>T, NC_000002.12:g.141731023G>A, NG_051023.1:g.406441C>A, 874295, NC_000002.11:g.142488592G>A, NG_051023.1:g.406441=, rs874295, NG_051023.1:g.406441C>T +PA166154996 rs875858 PA142670633 VAC14 NC_000016.10:70741552 1 1 0 0 0 NC_000016.10:g.70741552=, NC_000016.10:g.70741552C>A, XM_011523225.1:c.1528+2871G>A, XM_005256038.1:c.1528+2871G>A, rs57476346, rs875858, NC_000016.9:g.70775455C>A, 875858, NG_054902.1:g.64618G>A, XM_005256041.1:c.1528+2871G>A, XM_005256038.2:c.1528+2871G>A, XM_005256039.1:c.1528+2871G>A, XM_005256040.1:c.1528+2871G>A, NC_000016.9:g.70775455=, NG_054902.1:g.64618G>T, NC_000016.10:g.70741552C>T, NC_000016.9:g.70775455C>T, NM_018052.3:c.1528+2871G>A, 57476346, XM_011523223.1:c.1528+2871G>A, XM_011523224.1:c.1528+2871G>A, NG_054902.1:g.64618=, XM_005256041.2:c.1528+2871G>A +PA166195761 rs876493 PA274 PNMT NC_000017.11:39668292 1 0 0 0 0 NC_000017.10:g.37824545G>A, NG_042278.1:g.5312G>A, NG_008892.1:g.7947G>A, NC_000017.11:g.39668292=, NG_008892.1:g.7947=, 876493, NC_000017.10:g.37824545=, rs876493, NG_042278.1:g.5312=, NC_000017.11:g.39668292G>A, 59739157 +PA166154852 rs877087 PA34897 RYR3 NC_000015.10:33582074 3 0 0 0 0 XM_011521880.1:c.1573+431T>C, 58291053, NC_000015.10:g.33582074T>G, XM_005254587.1:c.1573+431T>C, 111190022, NC_000015.9:g.33874275T>G, NC_000015.10:g.33582074T>C, NC_000015.9:g.33874275=, 877087, NC_000015.9:g.33874275T>C, rs111190022, NC_000015.10:g.33582074=, NG_047076.1:g.276292=, 17236203, rs58291053, NM_001036.4:c.1573+431T>C, NG_047076.1:g.276292T>C, XM_005254588.1:c.1573+431T>C, rs877087, NM_001243996.2:c.1573+431T>C, rs17236203, NG_047076.1:g.276292T>G +PA166156743 rs878567 PA192 HTR1A NC_000005.10:63960164 2 1 0 0 0 NC_000005.9:g.63255991=, NC_000005.10:g.63960164A>C, 57186199, NM_000524.3:c.*287T>C, NC_000005.10:g.63960164A>G, NC_000005.10:g.63960164=, 878567, NG_032816.1:g.7129T>C, NG_032816.1:g.7129=, NG_032816.1:g.7129T>G, NC_000005.9:g.63255991A>C, rs57186199, NC_000005.9:g.63255991A>G, rs878567 +PA166160209 rs878886 PA26874 CRHR1 NC_000017.11:45835124 1 0 0 0 0 NG_009902.1:g.55863=, NC_000017.10:g.43912490C>G, 117687766, NC_000017.11:g.45835124C>T, NG_009902.1:g.55863C>G, NC_000017.10:g.43912490=, 878886, NC_000017.11:g.45835124C>G, 145710644, NC_000017.11:g.45835124=, NG_009902.1:g.55863C>T, rs878886, NC_000017.10:g.43912490C>T +PA166160211 rs878887 PA26874 CRHR1 NC_000017.11:45835216 1 0 0 0 0 112055004, NC_000017.10:g.43912582C>T, NC_000017.10:g.43912582=, NG_009902.1:g.55955=, 17763307, NC_000017.11:g.45835216=, NC_000017.11:g.45835216C>T, NG_009902.1:g.55955C>T, rs878887, 148917910, 878887 +PA166160213 rs878888 PA26874 CRHR1 NC_000017.11:45835269 1 0 0 0 0 NC_000017.11:g.45835269A>G, rs878888, 111382253, NC_000017.11:g.45835269=, 17690073, NC_000017.10:g.43912635=, NC_000017.10:g.43912635A>G, NG_009902.1:g.56008=, NG_009902.1:g.56008A>G, 878888 +PA166153597 rs878949 PA29537 HSPG2 NC_000001.11:21900598 1 1 0 0 0 XM_006710597.2:c.64-4288A>G, NC_000001.10:g.22227091T>A, XM_011541317.1:c.64-4288A>G, NC_000001.10:g.22227091T>C, XM_011541321.1:c.64-4288A>G, rs58418332, NM_005529.6:c.64-4288A>G, XM_005245863.1:c.64-4288A>G, XM_005245865.1:c.64-4288A>G, NC_000001.11:g.21900598T>C, XM_005245860.1:c.64-4288A>G, XM_005245859.1:c.64-4288A>G, XM_011541318.1:c.64-4288A>G, NC_000001.10:g.22227091=, NC_000001.11:g.21900598=, XM_011541322.1:c.64-4288A>G, NM_001291860.1:c.64-4288A>G, rs878949, XM_006710594.2:c.64-4288A>G, XM_011541319.1:c.64-4288A>G, XM_005245861.1:c.64-4288A>G, NC_000001.11:g.21900598T>A, NG_016740.1:g.41660A>G, 878949, XM_006710596.2:c.64-4288A>G, XM_005245862.1:c.64-4288A>G, XM_006710595.2:c.64-4288A>G, XM_011541320.1:c.64-4288A>G, 58418332, NG_016740.1:g.41660A>T, NG_016740.1:g.41660= +PA166155169 rs879207 NC_000017.11:3563302 2 1 0 0 0 rs56546739, NC_000017.11:g.3563302A>G, 56546739, NC_000017.11:g.3563302=, rs879207, rs17763222, NC_000017.10:g.3466596=, NC_000017.10:g.3466596A>G, 879207, 17763222 +PA166161870 rs879577 PA29801 IL17RA NC_000022.11:17108319 1 0 0 0 0 NG_028257.1:g.28359=, NP_055154.3:p.Ala367Val, NC_000022.11:g.17108319=, 879577, NC_000022.11:g.17108319C>T, 386618952, 2228076, 59969560, NC_000022.10:g.17589209C>T, NP_055154.3:p.Ala367Glu, NG_028257.1:g.28359C>A, NP_055154.3:p.Ala367=, 17856361, NC_000022.10:g.17589209=, NC_000022.11:g.17108319C>A, NG_028257.1:g.28359C>T, rs879577, NC_000022.10:g.17589209C>A +PA166156961 rs879825 PA37302 VEGFA NC_000006.12:43796077 1 1 0 0 0 879825, rs879825, NC_000006.12:g.43796077=, NC_000006.11:g.43763814A>G, XR_926833.1:n.-1044A>G, rs57569840, 57569840, NC_000006.11:g.43763814=, NC_000006.12:g.43796077A>G +PA166154506 rs880054 PA33782 WNK1 NC_000012.12:879392 1 1 0 0 0 XM_011521004.1:c.3609+1031C>T, XM_011521008.1:c.2289+1031C>T, rs17223434, XM_011521006.1:c.2290-181C>T, NM_014823.2:c.2370+1031C>T, XM_011520998.1:c.3610-181C>T, XM_011521005.1:c.2392-181C>T, XM_005253739.1:c.2370+1031C>T, XM_011521000.1:c.3613-181C>T, NC_000012.11:g.988558C>G, rs880054, XM_005253734.1:c.2374-181C>T, XM_005253740.1:c.2289+1031C>T, 17223434, XM_005253736.1:c.2290-181C>T, XM_005253738.1:c.2374-181C>T, NM_018979.3:c.2374-181C>T, NC_000012.11:g.988558C>T, NM_213655.4:c.3867+1031C>T, XM_005253735.1:c.2374-181C>T, NC_000012.12:g.879392C>T, XM_011521001.1:c.3613-181C>T, NG_007984.3:g.131334=, XM_011521003.1:c.3612+1031C>T, XM_011520997.1:c.3613-181C>T, 880054, XM_005253743.1:c.1153-181C>T, NC_000012.12:g.879392C>G, XM_005253737.1:c.2287-181C>T, XM_011521009.1:c.2286+1031C>T, NG_007984.3:g.131334C>G, NM_001184985.1:c.3612+1031C>T, XM_011521002.1:c.3609+1031C>T, XM_011520999.1:c.3613-181C>T, XM_005253742.1:c.2289+1031C>T, XM_006719003.1:c.2371-181C>T, NG_007984.3:g.131334C>T, NG_007984.2:g.131334C>T, XM_005253741.1:c.2286+1031C>T, NC_000012.11:g.988558=, NC_000012.12:g.879392=, XM_005253733.1:c.3613-181C>T, XM_011521007.1:c.2287-181C>T +PA166181363 rs880395 PA33878 PSMA4 NC_000015.10:78552014 1 0 0 0 0 57455479, NC_000015.10:g.78552014A>G, NC_000015.9:g.78844356A>G, 880395, NC_000015.10:g.78552014=, NC_000015.9:g.78844356A>T, NC_000015.10:g.78552014A>T, NC_000015.10:g.78552014A>C, NC_000015.9:g.78844356A>C, rs880395, NC_000015.9:g.78844356= +PA166179025 rs880663 PA281 PPARG NC_000003.12:12328584 1 0 0 0 0 59479121, NC_000003.12:g.12328584=, 117639631, NC_000003.11:g.12370083A>G, 880663, NG_011749.1:g.45735=, rs880663, NG_011749.1:g.45735A>G, NC_000003.12:g.12328584A>G, NC_000003.11:g.12370083= +PA166179888 rs881 PA36302 TACR1 NC_000002.12:75049302 2 0 0 0 0 17013, 881, NC_000002.12:g.75049302=, 58986520, NG_029522.1:g.155217G>C, 56635237, NC_000002.11:g.75276429C>G, NC_000002.12:g.75049302C>G, NG_029522.1:g.155217=, NC_000002.11:g.75276429=, rs881 +PA166156744 rs881152 PA27519 DUSP1 NC_000005.10:172771552 3 1 0 0 0 NC_000005.9:g.172198555G>C, NC_000005.9:g.172198555G>A, 881152, XR_941230.1:n.-1904G>A, XR_941231.1:n.-1904G>A, NC_000005.10:g.172771552=, 35788795, rs881152, XR_941236.1:n.-1904G>A, XR_941232.1:n.144G>A, NC_000005.9:g.172198555=, XR_941233.1:n.144G>A, XM_005265831.1:c.-600C>T, NC_000005.10:g.172771552G>A, rs35788795, NM_004417.3:c.-600C>T, NC_000005.10:g.172771552G>C +PA166154978 rs8832 PA29832 IL4R NC_000016.10:27364466 1 1 0 0 0 XM_011545834.1:c.*636A>G, rs58722874, XM_006721043.1:c.*636A>G, XM_005255308.1:c.*636A>G, 8832, XM_011545831.1:c.*636A>G, XM_011545827.1:c.*636A>G, XM_011545830.1:c.*636A>G, NC_000016.10:g.27364466A>G, NC_000016.9:g.27375787A>G, XM_005255306.1:c.*636A>G, XM_005255307.1:c.*636A>G, XM_011545825.1:c.*636A>G, 58722874, NM_001257997.1:c.*636A>G, XM_011545826.1:c.*636A>G, XM_011545828.1:c.*636A>G, rs8832, NM_001257406.1:c.*636A>G, 60943009, NM_001257407.1:c.*636A>G, XM_011545829.1:c.*636A>G, NC_000016.10:g.27364466=, NG_012086.1:g.55537=, XM_005255308.2:c.*636A>G, rs3169482, rs3760093, 3169482, NC_000016.9:g.27375787=, rs17786231, rs60943009, 3760093, NG_012086.1:g.55537A>G, XM_005255305.1:c.*636A>G, NM_000418.3:c.*636A>G, 17786231, XM_011545832.1:c.*636A>G, XM_011545833.1:c.*636A>G +PA166183957 rs883473 PA114 CHRNA7 NC_000015.10:32033473 1 0 0 0 0 NC_000015.10:g.32033473=, rs883473, 883473, NC_000015.9:g.32325676=, 59724138, NG_009216.1:g.7951=, NC_000015.10:g.32033473A>G, NC_000015.9:g.32325676A>G, NG_009216.1:g.7951A>G +PA166156962 rs884742 PA330 SLC22A3 NC_000006.12:160386400 1 0 0 0 0 XR_943187.1:n.5597G>T, 16891528, XM_005267107.1:c.430-11579C>A, 386619395, XR_245546.1:n.472-11579C>A, NC_000006.11:g.160807432=, 57000030, XM_011536078.1:c.430-11579C>A, rs57000030, NM_021977.3:c.430-11579C>A, XM_011536076.1:c.-27-11579C>A, rs884742, NC_000006.12:g.160386400=, XM_005267106.3:c.37-11579C>A, XM_005267107.2:c.430-11579C>A, rs16891528, NC_000006.11:g.160807432C>A, XM_011536077.1:c.-27-11579C>A, rs386619395, 884742, XM_005267106.1:c.37-11579C>A, NC_000006.12:g.160386400C>A +PA166157716 rs885004 PA426 SLC28A3 NC_000009.12:84294635 2 1 0 0 0 NC_000009.12:g.84294635=, 885004, XM_011518907.1:c.613-360C>T, NC_000009.12:g.84294635G>A, NM_022127.2:c.862-360C>T, XM_011518910.1:c.946-360C>T, rs59238422, NC_000009.11:g.86909550=, NM_001199633.1:c.862-360C>T, rs885004, XM_011518906.1:c.946-360C>T, XR_929832.1:n.1073-360C>T, NR_037638.2:n.1184-360C>T, XM_011518908.1:c.223-360C>T, XM_011518909.1:c.946-360C>T, 59238422, NC_000009.11:g.86909550G>A, XM_011518905.1:c.946-360C>T +PA166155606 rs885036 PA30782 MGAT4A NC_000002.12:98688331 2 2 0 0 0 NM_012214.2:c.95-9860T>C, XM_005263866.1:c.95-9860T>C, rs60397503, 885036, 17448475, NC_000002.11:g.99304794A>G, NC_000002.11:g.99304794=, 60397503, rs885036, NC_000002.12:g.98688331=, rs17448475, XM_005263867.1:c.-637-9860T>C, NC_000002.12:g.98688331A>G +PA166226741 rs885814 PA24729 ALPL NC_000001.11:21549423 1 0 0 0 0 NC_000001.11:g.21549423C>T, NG_008940.1:g.45059=, NC_000001.11:g.21549423=, rs885814, 60676566, NC_000001.10:g.21875916C>T, NG_008940.1:g.45059C>T, 885814, NC_000001.10:g.21875916= +PA166303083 rs885821 PA33732 PRF1 NC_000010.11:70598899 1 0 0 0 0 NG_009615.1:g.8877=, NG_009615.1:g.8877C>T, NP_005032.2:p.Ala274=, NC_000010.11:g.70598899G>A, NG_009615.1:g.8877C>G, NC_000010.10:g.72358655G>C, rs885821, NC_000010.11:g.70598899G>C, NC_000010.10:g.72358655G>A, 17599779, 57776917, NC_000010.11:g.70598899=, NC_000010.10:g.72358655=, 885821 +PA166185727 rs886043595 PA35006 SCN4A NC_000017.11:63944692 2 1 0 0 0 NG_011699.1:g.33227T>G, NP_000325.4:p.Phe1298=, NC_000017.10:g.62022052A>C, NC_000017.10:g.62022052A>G, NC_000017.10:g.62022052=, rs886043595, NC_000017.11:g.63944692=, NP_000325.4:p.Phe1298Cys, NC_000017.11:g.63944692A>C, NG_011699.1:g.33227T>C, NC_000017.11:g.63944692A>G, NG_042788.1:g.27600A>G, NP_000325.4:p.Phe1298Ser, NG_042788.1:g.27600A>C, NG_042788.1:g.27600=, 886043595, NG_011699.1:g.33227= +PA166201524 rs886423 NC_000006.12:30814428 1 1 0 0 0 NC_000006.12:g.30814428=, 886423, NG_061669.1:g.237=, NG_061669.1:g.237G>C, 112832317, rs886423, NC_000006.12:g.30814428G>C, NC_000006.12:g.30814428G>A, 114964506, 3873318, NC_000006.11:g.30782205G>C, NC_000006.11:g.30782205G>A, NG_061669.1:g.237G>A, NC_000006.11:g.30782205=, 117735325 +PA166201523 rs886424 NC_000006.12:30814225 1 1 0 0 0 NC_000006.11:g.30782002C>T, NG_061669.1:g.34C>T, rs886424, NC_000006.12:g.30814225C>T, 3873317, NC_000006.11:g.30782002=, NG_061669.1:g.34=, 115799332, NC_000006.12:g.30814225=, 61492032, 886424 +PA166181489 rs886493 PA376 ABCC3 NC_000017.11:50667251 2 0 0 0 0 NC_000017.11:g.50667251G>A, 886493, rs886493, NC_000017.10:g.48744612G>T, NC_000017.11:g.50667251=, NC_000017.11:g.50667251G>T, NC_000017.10:g.48744612G>A, NC_000017.10:g.48744612= +PA166155607 rs887829 PA420,PA37174,PA37178,PA37179,PA37180,PA37181,PA37182,PA37183,PA419 UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NC_000002.12:233759924 21 5 0 0 0 NM_001072.3:c.862-7110C>T, 386619532, XR_241239.1:n.-342C>T, 61315639, NM_019077.2:c.856-7110C>T, NG_033238.1:g.4652C>T, NC_000002.12:g.233759924C>T, NM_000463.2:c.-364C>T, NM_019093.2:c.868-7110C>T, NM_021027.2:c.856-7110C>T, NM_019078.1:c.868-7110C>T, NC_000002.11:g.234668570C>T, NG_002601.2:g.175181C>T, rs34790730, NM_019076.4:c.856-7110C>T, NM_205862.1:c.61-7110C>T, rs12990609, XR_241238.1:n.924-7110C>T, 34790730, XR_241241.1:n.942-7110C>T, 887829, rs887829, NG_033238.1:g.4652=, 12990609, *80, XR_241240.1:n.1023-7110C>T, NM_007120.2:c.868-7110C>T, rs36207722, NM_019075.2:c.856-7110C>T, NG_002601.2:g.175181=, NC_000002.11:g.234668570=, rs61315639, NC_000002.12:g.233759924=, rs386619532, 36207722 +PA166159130 rs887929 PA27468,PA420 DPP6,UGT1A1 NC_000007.14:154385759 1 0 0 0 0 NG_033878.1:g.503426C>T, 59785807, 887929, NC_000007.13:g.154082844C>T, 10361211, NC_000007.14:g.154385759C>T, NG_033878.2:g.642774=, rs887929, NC_000007.14:g.154385759=, NG_033878.1:g.503426=, NC_000007.13:g.154082844=, NG_033878.2:g.642774C>T +PA166154998 rs889299 PA306 SCNN1B NC_000016.10:23370593 1 1 0 0 0 61377236, rs56437834, 889299, NC_000016.9:g.23381914=, NG_011908.1:g.73324G>A, rs889299, NC_000016.9:g.23381914G>A, NG_011908.1:g.73324=, XM_005255467.1:c.1016-706G>A, XM_011545914.1:c.899-706G>A, XM_011545913.1:c.914-706G>A, 56437834, NC_000016.10:g.23370593=, NM_000336.2:c.881-706G>A, rs3785358, 3785358, NC_000016.10:g.23370593G>A, rs61377236 +PA166155608 rs889895 PA26864 CREB1 NC_000002.12:207534205 2 1 0 0 0 NC_000002.11:g.208398929A>G, NG_023299.1:g.9314=, XR_241290.1:n.219+4071A>G, XM_011510647.1:c.-9+4187A>G, XM_011510648.1:c.-9+4071A>G, 889895, XR_241289.1:n.219+4071A>G, XM_011510646.1:c.-9+4071A>G, NM_134442.3:c.-9+4071A>G, NC_000002.12:g.207534205A>G, XR_241293.1:n.193+4071A>G, rs889895, XM_011510649.1:c.-7+4071A>G, XR_241292.1:n.219+4071A>G, NC_000002.11:g.208398929=, NC_000002.12:g.207534205=, NG_023299.1:g.9314A>G, XM_005246324.1:c.-9+4071A>G, XM_011510645.1:c.-9+4187A>G, XR_427071.1:n.193+4071A>G, NM_004379.3:c.-9+4071A>G, XM_011510652.1:c.-9+4071A>G, XR_241291.1:n.219+4071A>G +PA166154483 rs890 PA28980 GRIN2B NC_000012.12:13562374 1 0 0 0 0 XM_005253351.1:c.*409T>G, rs60649833, NC_000012.11:g.13715308=, 17005, NC_000012.11:g.13715308A>G, XM_011520629.1:c.*409T>G, NG_031854.2:g.424639=, NC_000012.12:g.13562374=, XM_011520628.1:c.*409T>G, XM_011520630.1:c.*409T>G, NC_000012.11:g.13715308A>C, 890, 386619632, rs890, NC_000012.12:g.13562374A>C, NG_031854.1:g.422715T>G, NC_000012.12:g.13562374A>G, rs17005, XM_005253351.2:c.*409T>G, rs17760489, 17760489, 60649833, NG_031854.2:g.424639T>C, NM_000834.3:c.*409T>G, rs386619632, NG_031854.2:g.424639T>G +PA166153598 rs890293 PA27112 CYP2J2 NC_000001.11:59926822 3 1 0 0 0 NG_007931.1:g.4930G>T, 60282769, NC_000001.11:g.59926822C>A, XR_946558.1:n.-49G>T, rs890293, 3738475, NG_007931.1:g.4930=, NC_000001.10:g.60392494C>A, rs3738475, NR_134981.1:n.-24G>T, NC_000001.11:g.59926822=, rs60282769, 890293, XR_246240.1:n.-49G>T, NC_000001.10:g.60392494=, NM_000775.3:c.-76G>T, NR_134982.1:n.-24G>T, XR_246240.2:n.-49G>T +PA166203410 rs8904 PA31601 NFKBIA NC_000014.9:35402011 3 1 0 0 0 NC_000014.9:g.35402011=, NC_000014.9:g.35402011G>A, 1050932, NC_000014.9:g.35402011G>C, 59948257, NG_007571.1:g.7728C>A, 11569606, NG_007571.1:g.7728C>G, NC_000014.8:g.35871217G>T, rs8904, 3167700, NG_007571.1:g.7728=, 3818260, NC_000014.9:g.35402011G>T, NG_007571.1:g.7728C>T, NC_000014.8:g.35871217=, NC_000014.8:g.35871217G>A, 8904, NC_000014.8:g.35871217G>C +PA166156298 rs892940 PA36508 THRB NC_000003.12:24497347 1 0 0 0 0 NR_046244.1:n.406-2185A>G, 57381368, rs57381368, XR_245154.1:n.1311A>G, NC_000003.11:g.24538838A>G, NC_000003.12:g.24497347=, rs892940, NG_009159.1:g.2476T>C, NG_009159.1:g.2476=, NC_000003.12:g.24497347A>G, 892940, NC_000003.11:g.24538838= +PA166183759 rs894160 PA33409 PLIN1 NC_000015.10:89668592 1 1 0 0 0 NC_000015.10:g.89668592=, 894160, rs894160, NC_000015.10:g.89668592C>T, NG_029172.1:g.15826G>A, NG_029172.1:g.15826=, NC_000015.9:g.90211823C>T, NC_000015.9:g.90211823= +PA166160171 rs894685 NC_000017.11:44977671 1 0 0 0 0 NC_000017.11:g.44977671A>G, NC_000017.10:g.43055039A>G, 894685, rs894685, 60615732, NC_000017.11:g.44977671=, NC_000017.10:g.43055039= +PA166155357 rs895819 PA164722613,PA164722616,PA164722621 MIR23A,MIR24-2,MIR27A NC_000019.10:13836478 9 1 0 0 0 NR_029497.1:n.-119A>G, NC_000019.10:g.13836478=, NC_000019.9:g.13947292T>G, rs117072305, NC_000019.10:g.13836478T>A, NC_000019.10:g.13836478T>C, 895819, NC_000019.9:g.13947292T>A, NR_029495.1:n.182A>G, NC_000019.10:g.13836478T>G, 61371382, NC_000019.9:g.13947292T>C, rs895819, NR_036515.1:n.-189A>G, rs61371382, 117072305, NR_029501.1:n.40A>G, NC_000019.9:g.13947292= +PA166155358 rs896412 PA34134,PA162406385 RAB3D,TMEM205 NC_000019.10:11333455 1 0 0 0 0 NC_000019.10:g.11333455C>G, rs17446930, 17446930, NM_004283.3:c.472+1992G>C, NC_000019.9:g.11444131C>G, NC_000019.9:g.11444131=, NC_000019.10:g.11333455=, 896412, rs896412 +PA166154688 rs899494 PA397 ABCC4 NC_000013.11:95209550 5 1 0 0 0 NP_005836.2:p.Ile223=, XP_005254085.1:p.Ile148=, NG_050651.1:g.96897T>C, XP_005254084.1:p.Ile148=, XM_005254027.1:c.444T>C, NC_000013.11:g.95209550A>T, rs899494, XP_005254083.1:p.Ile223=, NP_001288759.1:p.Ile148=, NP_001288758.1:p.Ile223=, NM_005845.4:c.669T>C, XM_005254025.1:c.540T>C, XP_011519349.1:p.Ile40=, NP_001098985.1:p.Ile223=, XM_011521047.1:c.120T>C, rs3818487, 17854131, NG_050651.1:g.96897T>A, 3818487, NC_000013.10:g.95861804A>T, XM_005254026.1:c.669T>C, XM_006719914.1:c.669T>C, XM_005254025.2:c.540T>C, rs17854131, NM_001301830.1:c.444T>C, NC_000013.11:g.95209550=, NG_050651.1:g.96897=, XP_006719977.1:p.Ile223=, NM_001105515.2:c.669T>C, NC_000013.10:g.95861804=, NC_000013.10:g.95861804A>G, XM_005254028.1:c.444T>C, 899494, NC_000013.11:g.95209550A>G, NM_001301829.1:c.669T>C, XP_005254082.1:p.Ile180= +PA166156299 rs901865 PA29456 HRH1 NC_000003.12:11259021 5 1 0 0 0 NC_000003.11:g.11300707=, 901865, XM_011533652.1:c.-17T>C, XM_011533654.1:c.-17T>C, rs59587180, rs901865, NM_001098213.1:c.-17T>C, NM_001098211.1:c.-17T>C, NC_000003.11:g.11300707T>C, rs1800688, 1800688, NM_000861.3:c.-17T>C, NC_000003.12:g.11259021=, 59587180, NC_000003.12:g.11259021T>C, XM_011533653.1:c.-17T>C, XM_011533655.1:c.-17T>C, NM_001098212.1:c.-17T>C +PA166155972 rs9024 PA26121,PA25814 CBR1,SETD4 NC_000021.9:36073015 6 2 0 0 0 NM_001286789.1:c.*1076G>A, 3171443, rs3171443, 9024, NM_001757.3:c.*133G>A, NC_000021.9:g.36073015=, NR_040084.1:n.377+1866C>T, NC_000021.9:g.36073015G>C, rs17228577, rs9024, XM_005261073.1:c.*1076G>A, NC_000021.9:g.36073015G>A, NC_000021.8:g.37445313=, 61389789, NC_000021.8:g.37445313G>C, rs61389789, NC_000021.8:g.37445313G>A, 17228577 +PA166176955 rs9032 PA134977298 RABGAP1 NC_000009.12:123104493 1 1 0 0 0 rs9032, NC_000009.11:g.125866772C>G, 16912562, 386421385, NC_000009.12:g.123104493=, NC_000009.12:g.123104493C>G, 9032, 3739832, 59599683, NC_000009.11:g.125866772C>T, 3188152, NC_000009.12:g.123104493C>T, NC_000009.11:g.125866772= +PA166154999 rs903880 PA244 ABCC1 NC_000016.10:16036657 1 0 0 0 0 58300570, NC_000016.10:g.16036657=, rs903880, XM_005255328.1:c.671+54C>A, XM_005255329.1:c.809+54C>A, XM_011522497.1:c.785+54C>A, NG_028268.1:g.92081C>A, XM_005255327.1:c.683+54C>A, rs58300570, NG_028268.1:g.92081=, NT_187607.1:g.1694556C>A, 903880, NM_004996.3:c.809+54C>A, NC_000016.9:g.16130514C>A, NC_000016.10:g.16036657C>A, NG_028268.2:g.92081=, XM_011522498.1:c.863+54C>A, NC_000016.9:g.16130514=, XM_005255326.1:c.809+54C>A, NG_028268.2:g.92081C>A +PA166153599 rs904323 PA143485536 MIA3 NC_000001.11:222617024 1 0 0 0 0 NC_000001.10:g.222790366=, NC_000001.11:g.222617024=, 904323, NC_000001.11:g.222617024G>A, rs904323, XM_006711304.2:c.-1087G>A, NC_000001.10:g.222790366G>A, NM_198551.3:c.-1087G>A, XM_005273121.1:c.-1087G>A, XM_011509513.1:c.-1087G>A, XM_005273121.3:c.-1087G>A +PA166156963 rs909253 PA30474 LTA NC_000006.12:31572536 2 0 0 0 0 XM_011548051.1:c.-9-200A>G, NT_167245.1:g.2825852A>G, NT_167249.2:g.2871816A=, 118110345, XM_011547887.1:c.-9-198G>A, XM_011548242.1:c.-10+90G>A, XR_952970.1:n.83+47C>T, XR_952889.1:n.116+47T>C, 909253, XR_952245.1:n.140+47T>C, rs118110345, XM_011547653.1:c.-10+90A>G, XR_926695.1:n.116+47T>C, XM_011514616.1:c.-9-198G>A, 11574951, rs115438376, rs606231213, XM_011548438.1:c.-9-198G>A, NT_167246.2:g.2877577A=, XM_011548050.1:c.-10+90G>A, NM_001159740.2:c.-9-198G>A, XR_953113.1:n.116+47C>T, XM_011547886.1:c.-9-198A>G, NT_167248.1:g.2833949A=, NG_007462.1:g.1964A=, NG_007462.1:g.1964A>G, NC_000006.12:g.31572536A=, NG_012010.1:g.5438A=, XM_011514617.1:c.-9-198A>G, XM_011547654.1:c.-9-200G>A, XM_011548437.1:c.-9-198A>G, rs909253, NM_000595.3:c.-10+90A>G, XM_011548243.1:c.-9-200A>G, NG_007462.1:g.1964A>T, XM_011547885.1:c.-9-198G>A, NT_167248.1:g.2833949A>G, XR_952245.1:n.140+47C>T, XR_953043.1:n.83+47C>T, rs61372201, NT_167245.2:g.2820267A>G, XR_952889.1:n.116+47C>T, XM_011548440.1:c.-9-198G>A, XM_011514618.1:c.-9-198G>A, XM_011547250.1:c.-9-198A>G, rs4134700, 4134700, XR_926695.1:n.116+47C>T, NC_000006.12:g.31572536A>G, XM_011548436.1:c.-9-198G>A, NT_167245.2:g.2820267A=, XM_011547884.1:c.-9-198G>A, NC_000006.12:g.31572536A>T, NT_167247.1:g.2920017A=, NT_167249.1:g.2871114A>G, XM_011514614.1:c.-9-198A>G, XR_953113.1:n.116+47T>C, 138853494, XR_952708.1:n.83+47T>C, NG_007462.1:g.1964=, NC_000006.11:g.31540313A=, XM_011514615.1:c.-9-198A>G, NT_167248.2:g.2828353A>G, NT_167245.1:g.2825852A=, NT_167249.1:g.2871114A=, XM_011547883.1:c.-9-198G>A, XM_011548439.1:c.-9-198A>G, NT_167246.2:g.2877577A>G, XM_011548051.1:c.-9-200G>A, 4986977, rs4986977, 6457447, rs6457447, XR_953043.1:n.83+47T>C, XM_011547887.1:c.-9-198A>G, XM_011548242.1:c.-10+90A>G, XM_011547653.1:c.-10+90G>A, XM_011514616.1:c.-9-198A>G, 61372201, NC_000006.11:g.31540313=, 3895079, rs3895079, NT_113891.2:g.3049929G>A, XM_011548438.1:c.-9-198A>G, XM_011548050.1:c.-10+90A>G, NM_001159740.2:c.-9-198A>G, NT_113891.2:g.3049929G=, NT_113891.3:g.3049823G=, XM_011547886.1:c.-9-198G>A, NT_167246.1:g.2883197A=, XM_011514617.1:c.-9-198G>A, XR_952708.1:n.83+47C>T, XM_011547654.1:c.-9-200A>G, XM_011548437.1:c.-9-198G>A, NM_000595.3:c.-10+90G>A, XM_011548243.1:c.-9-200G>A, NC_000006.11:g.31540313A>G, XM_011547885.1:c.-9-198A>G, XR_952970.1:n.83+47T>C, NT_167248.2:g.2828353A=, rs11574951, NT_167246.1:g.2883197A>G, NT_167247.2:g.2914432A>G, XM_011548440.1:c.-9-198A>G, XM_011514618.1:c.-9-198A>G, NT_167249.2:g.2871816A>G, XM_011547250.1:c.-9-198G>A, XM_011548436.1:c.-9-198A>G, NC_000006.11:g.31540313A>T, NT_167247.1:g.2920017A>G, rs138853494, XM_011547884.1:c.-9-198A>G, NC_000006.12:g.31572536=, XM_011514614.1:c.-9-198G>A, NG_012010.1:g.5438=, NG_012010.1:g.5438A>T, 115438376, NT_113891.3:g.3049823G>A, 606231213, NG_012010.1:g.5438A>G, XM_011514615.1:c.-9-198G>A, NT_167247.2:g.2914432A=, XM_011547883.1:c.-9-198A>G, XM_011548439.1:c.-9-198G>A +PA166162580 rs909530 PA166 FMO3 NC_000001.11:171114034 2 0 0 0 0 59253750, NG_012690.1:g.28157C>T, 909530, rs909530, 58508369, NC_000001.11:g.171114034C>T, NC_000001.10:g.171083174=, NC_000001.10:g.171083174C>T, NG_012690.1:g.28157=, NC_000001.11:g.171114034=, NP_008825.4:p.Asn285= +PA166156964 rs909706 PA27512 DTNBP1 NC_000006.12:15660640 1 1 0 0 0 NM_001271669.1:c.56+2174A>G, NR_036448.1:n.246-119A>G, NM_001271667.1:c.-233+2174A>G, NG_009309.1:g.7401=, rs909706, NC_000006.11:g.15660871=, NC_000006.12:g.15660640=, NM_032122.4:c.56+2174A>G, NM_001271668.1:c.56+2174A>G, XM_011514936.1:c.-122-119A>G, NC_000006.11:g.15660871T>C, XM_005249447.3:c.-122-119A>G, NG_009309.1:g.7401A>G, NM_183040.2:c.56+2174A>G, 909706, NC_000006.12:g.15660640T>C, XM_005249447.1:c.-122-119A>G +PA166156965 rs910039 PA134989437 CAP2 NC_000006.12:17505713 1 0 0 0 0 rs910039, 17388058, NC_000006.12:g.17505713A>C, NR_110855.1:n.283-2365T>C, NM_006366.2:c.301-1456A>G, XM_005248801.1:c.223-1456A>G, NC_000006.11:g.17505944A>C, NC_000006.12:g.17505713A>T, 910039, NC_000006.12:g.17505713=, NC_000006.11:g.17505944=, NC_000006.11:g.17505944A>G, XM_005248803.1:c.301-33556A>G, NC_000006.11:g.17505944A>T, XM_005248804.1:c.223-37124A>G, XR_241984.1:n.431-2365T>C, XM_011514233.1:c.223-1456A>G, rs17388058, NC_000006.12:g.17505713A>G, XM_005248802.1:c.301-1456A>G +PA166177939 rs910080 PA33163 PDYN NC_000020.11:1979580 2 1 0 0 0 3748513, NC_000020.10:g.1960226=, NC_000020.11:g.1979580A>G, NC_000020.10:g.1960226A>T, NC_000020.10:g.1960226A>G, rs910080, NC_000020.11:g.1979580A>T, NG_028027.1:g.19666=, NG_028027.1:g.19666T>C, NG_028027.1:g.19666T>A, NC_000020.10:g.1960226A>C, 910080, NC_000020.11:g.1979580=, NC_000020.11:g.1979580A>C, NG_028027.1:g.19666T>G +PA166273822 rs912571 NC_000006.12:150119154 2 0 0 0 0 56508649, NC_000006.11:g.150440290=, NC_000006.11:g.150440290C>G, rs912571, NC_000006.12:g.150119154C>G, NC_000006.12:g.150119154=, 912571, 59362442 +PA166155984 rs914232 PA327 SLC19A1 NC_000021.9:45532836 1 1 0 0 0 XM_011529707.1:c.481-688A>G, NG_028278.2:g.35308A>G, XM_011529710.1:c.-165-688A>G, NC_000021.9:g.45532836T>C, NM_194255.2:c.190-688A>G, XM_011529702.1:c.190-688A>G, XM_011529709.1:c.-165-688A>G, 56615950, XM_011529699.1:c.217-688A>G, XM_011529697.1:c.481-688A>G, rs56615950, NG_028278.2:g.35308=, XM_005261164.2:c.-165-688A>G, XM_011529708.1:c.190-688A>G, NC_000021.8:g.46952750=, XM_011529703.1:c.190-688A>G, NM_001205206.1:c.190-688A>G, XM_005261164.1:c.-165-688A>G, NC_000021.9:g.45532836=, XM_011529700.1:c.190-688A>G, NC_000021.8:g.46952750T>C, XM_005261163.1:c.190-688A>G, NM_001205207.1:c.70-688A>G, XM_011529704.1:c.190-688A>G, XM_011529706.1:c.52-688A>G, XM_011529701.1:c.190-688A>G, rs914232, NG_028278.1:g.14636A>G, XM_011529696.1:c.481-688A>G, XM_011529705.1:c.481-688A>G, 914232, XM_011529698.1:c.256-688A>G +PA166153956 rs915120 PA180 GRK5 NC_000010.11:119430601 1 1 0 0 0 XM_005269707.1:c.597+163T>C, NC_000010.10:g.121190113=, 57517220, XM_011540450.1:c.-2936A>G, NC_000010.11:g.119430601=, NC_000010.11:g.119430601T>A, NC_000010.11:g.119430601T>C, XM_005269709.1:c.306+163T>C, rs915120, NM_005308.2:c.597+163T>C, XM_005269708.1:c.501+163T>C, NC_000010.10:g.121190113T>A, XM_011539699.1:c.-34+163T>C, NC_000010.10:g.121190113T>C, rs57517220, 915120 +PA166303901 rs915854 NC_000021.9:43046656 2 0 0 0 0 59918064, NC_000021.9:g.43046656C>T, 915854, NC_000021.8:g.44466766C>T, NC_000021.8:g.44466766=, rs915854, NC_000021.9:g.43046656= +PA166157280 rs917071 PA28992 GRM3 NC_000007.14:86724465 1 0 0 0 0 XM_011516090.1:c.-140-40541C>T, rs58097802, NC_000007.14:g.86724465=, NC_000007.13:g.86353781=, NC_000007.14:g.86724465C>T, NC_000007.13:g.86353781C>T, rs917071, 58097802, XM_011516089.1:c.-140-40541C>T, rs10341047, XM_005250289.1:c.100+79593C>T, XM_005250287.1:c.85-61796C>T, NM_000840.2:c.-140-40541C>T, XM_011516088.1:c.-140-40541C>T, 917071, 10341047 +PA166283442 rs917881 PA7360 EGFR NC_000007.14:55094612 2 2 0 0 0 917881, NC_000007.14:g.55094612A>G, NC_000007.13:g.55162305A>T, NG_007726.3:g.80581A>G, 11526305, NC_000007.14:g.55094612=, rs917881, NC_000007.13:g.55162305=, NC_000007.13:g.55162305A>G, NG_007726.3:g.80581A>T, 17289322, NC_000007.14:g.55094612A>T, NG_007726.3:g.80581=, 57247523 +PA166195110 rs919463 PA238 MAPT NC_000017.11:45988375 1 0 0 0 0 919463, NG_007398.1:g.98955A>G, NG_007398.2:g.98913=, NG_007398.2:g.98913G>A, NG_007398.2:g.98913G>C, NG_007398.1:g.98955A>C, NC_000017.11:g.45988375G>A, NC_000017.10:g.44065741G>C, NC_000017.10:g.44065741G>A, NC_000017.11:g.45988375=, rs919463, 111325556, NC_000017.10:g.44065741=, NC_000017.11:g.45988375G>C, 60809381 +PA166169844 rs9200 PA25921 C6 NC_000005.10:41142504 2 1 0 0 0 NG_011582.1:g.123935G>A, NG_011582.1:g.123935G>C, 9200, 17259726, NC_000005.9:g.41142606=, NC_000005.9:g.41142606C>T, rs9200, NC_000005.10:g.41142504C>A, NC_000005.10:g.41142504C>G, 59247095, NC_000005.10:g.41142504=, NG_011582.1:g.123935=, NG_011582.1:g.123935G>T, NC_000005.9:g.41142606C>A, NC_000005.9:g.41142606C>G, 16870898, 3805709, NC_000005.10:g.41142504C>T, 57765684 +PA166178363 rs920829 PA24808 TRPA1 NC_000008.11:72065468 1 0 0 0 0 NC_000008.11:g.72065468=, NP_015628.2:p.Glu179=, 920829, NG_033890.1:g.15117=, NC_000008.10:g.72977703=, rs920829, NC_000008.10:g.72977703C>T, NP_015628.2:p.Glu179Lys, 52810580, NG_033890.1:g.15117G>A, NC_000008.11:g.72065468C>T +PA166157281 rs921451 PA140 DDC NC_000007.14:50555587 2 0 0 0 0 rs17733376, NM_001242886.1:c.-29+5426A>G, NM_001242890.1:c.-29+5426A>G, 921451, rs10364859, NG_008742.1:g.14870=, XM_005271745.1:c.-29+9697A>G, rs59126309, NC_000007.14:g.50555587T>C, NM_001242889.1:c.-29+5426A>G, NC_000007.14:g.50555587=, XM_005271745.3:c.-29+9698A>G, NM_000790.3:c.-29+5426A>G, 17733376, 59126309, NC_000007.13:g.50623285T>C, XM_005271744.1:c.-29+8407A>G, NM_001242887.1:c.-29+5426A>G, rs921451, 10364859, NM_001082971.1:c.-29+9697A>G, NM_001242888.1:c.-29+5426A>G, NC_000007.13:g.50623285=, NG_008742.1:g.14870A>G +PA166156745 rs924607 PA142672125 CEP72 NC_000005.10:609978 10 1 0 0 0 XR_925674.1:n.4533C>T, XR_951682.1:n.4681C>T, NC_000005.9:g.610093C>T, XR_925672.1:n.4781C>T, rs924607, XR_951683.1:n.4533C>T, NR_103444.1:n.366+1469G>A, XR_925673.1:n.4681C>T, XR_951681.1:n.4781C>T, NC_000005.10:g.609978=, NC_000005.10:g.609978C>T, NT_187550.1:g.16919G>A, NC_000005.9:g.610093=, 924607 +PA166201521 rs9262132 PA134948212 ATAT1 NC_000006.12:30643573 1 1 0 0 0 NC_000006.12:g.30643573=, NC_000006.12:g.30643573C>A, NC_000006.12:g.30643573C>T, NC_000006.11:g.30611350=, NC_000006.11:g.30611350C>A, NC_000006.11:g.30611350C>T, 116667166, rs9262132, 9262132 +PA166201522 rs9262143 PA134918172 PPP1R18 NC_000006.12:30685004 1 1 0 0 0 52821119, NC_000006.11:g.30652781=, NC_000006.12:g.30685004C>T, NP_597728.1:p.Gly339=, NC_000006.11:g.30652781C>G, 116295105, NC_000006.12:g.30685004=, 17189267, 57338511, NP_597728.1:p.Gly339Arg, rs9262143, 9262143, NC_000006.12:g.30685004C>G, NC_000006.11:g.30652781C>T +PA166161422 rs9263726 PA33919,PA33920 PSORS1C1,PSORS1C2 NC_000006.12:31138722 4 1 0 0 0 rs9263726, 9263726, 114541727, NG_021348.1:g.28892G>A, 61603795, NC_000006.11:g.31106499=, 52792269, NC_000006.12:g.31138722=, NP_054787.2:p.Arg37=, NG_021348.1:g.28892=, 112940667, NC_000006.12:g.31138722G>A, NC_000006.11:g.31106499G>A, 186562789, 117673022, NP_054787.2:p.Arg37His +PA166157134 rs9272105 PA35066 HLA-DQA1 NC_000006.12:32632222 1 1 0 0 0 NT_167246.1:g.4056154G>A, 78375203, 35395657, NT_167247.1:g.3938863G=, NT_167248.1:g.3836834A=, NT_167249.1:g.4033445G=, NT_167245.1:g.3881721G>A, NT_113891.3:g.4050269A=, NT_113891.3:g.4050269A>G, NT_167245.1:g.3881721G=, NT_167247.2:g.3933278G>A, NT_167245.2:g.3876136G>A, NT_167249.1:g.4033445G>A, rs12198540, NT_167248.2:g.3831238A=, NC_000006.12:g.32632222=, NT_167249.2:g.4034147G>A, NT_167247.2:g.3933278G=, NT_113891.2:g.4050375A=, rs112115374, NC_000006.12:g.32632222G=, NT_167246.2:g.4050534G=, NT_167246.2:g.4050534G>A, NC_000006.11:g.32599999=, 12198540, rs78375203, NT_167248.1:g.3836834A>G, NC_000006.11:g.32599999G=, NT_167245.2:g.3876136G=, rs9272105, NT_167247.1:g.3938863G>A, 9272105, rs35395657, NC_000006.11:g.32599999G>A, NT_167248.2:g.3831238A>G, NT_167249.2:g.4034147G=, NC_000006.12:g.32632222G>A, NT_113891.2:g.4050375A>G, NT_167246.1:g.4056154G=, 112115374 +PA166157135 rs9274407 PA35068 HLA-DQB1 NC_000006.12:32665055 1 1 0 0 0 NT_167248.2:g.3859331T=, 12722108, NP_001230891.1:p.Tyr41=, rs281862053, NT_167247.2:g.3961533T>A, NT_167247.2:g.3961533T=, 281862053, NT_167248.1:g.3864927T>A, NC_000006.11:g.32632832=, NT_167246.2:g.4082873T=, NC_000006.11:g.32632832A>C, NC_000006.11:g.32632832A>G, NT_167246.1:g.4088493T>A, NC_000006.12:g.32665055=, 74205234, NT_167249.2:g.4062293T=, rs9274407, NC_000006.11:g.32632832A>T, rs12722108, NP_001230890.1:p.Phe41Tyr, NT_167248.2:g.3859331T>A, 78476585, NP_002114.3:p.Phe41Tyr, NG_029922.1:g.6639A=, NM_002123.4:c.122T>A, NC_000006.12:g.32665055A=, NC_000006.12:g.32665055A>C, 77051381, NP_002114.3:p.Phe41=, NP_001230890.1:p.Phe41=, NC_000006.12:g.32665055A>G, NM_001243961.1:c.122T=, NP_002114.3:p.Phe41Ser, NC_000006.11:g.32632832A=, NT_167246.2:g.4082873T>A, NT_167247.1:g.3967118T=, NM_001243962.1:c.122A>T, NC_000006.12:g.32665055A>T, NT_167247.1:g.3967118T>A, NT_167246.1:g.4088493T=, NM_001243961.1:c.122T>A, NT_167249.2:g.4062293T>A, NT_167248.1:g.3864927T=, NG_029922.1:g.6639A>T, NP_002114.3:p.Phe41Cys, rs78476585, NM_001243962.1:c.122A=, 9274407, NM_002123.4:c.122T=, rs77051381, NT_167245.2:g.3905890T>A, NP_001230891.1:p.Tyr41Phe, NG_029922.1:g.6639A>C, NT_167245.2:g.3905890T=, rs74205234, NG_029922.1:g.6639A>G +PA166176111 rs927650 PA27097 CYP24A1 NC_000020.11:54156202 1 1 0 0 0 NC_000020.11:g.54156202T>G, rs927650, NC_000020.10:g.52772741=, NC_000020.10:g.52772741T>C, NC_000020.10:g.52772741T>A, 927650, NG_008334.1:g.22776A>C, NG_008334.1:g.22776=, NG_008334.1:g.22776A>G, NC_000020.11:g.54156202=, NC_000020.11:g.54156202T>C, 61425924, NC_000020.10:g.52772741T>G, NC_000020.11:g.54156202T>A, NG_008334.1:g.22776A>T +PA166157435 rs9282564 PA267 ABCB1 NC_000007.14:87600124 22 5 0 0 0 rs61615398, rs13234342, 9282564, 202032114, NG_011513.1:g.118125A>T, rs202032114, 13234342, NG_011513.1:g.118125=, NC_000007.13:g.87229440T>A, NC_000007.14:g.87600124T>G, NC_000007.14:g.87600124T>C, NP_000918.2:p.Asn21His, NC_000007.13:g.87229440T>C, NC_000007.13:g.87229440=, NM_000927.4:c.61A>G, NC_000007.13:g.87229440T>G, NP_000918.2:p.Asn21Tyr, NC_000007.14:g.87600124T>A, NP_000918.2:p.Asn21=, NG_011513.1:g.118125A>G, 61615398, NP_000918.2:p.Asn21Asp, NG_011513.1:g.118125A>C, NC_000007.14:g.87600124=, rs9282564 +PA166183523 rs9282815 PA31945 OPRM1 NC_000006.12:154039507 1 0 0 0 0 NC_000006.11:g.154360642C>A, NC_000006.12:g.154039507=, 17174640, rs9282815, 9282815, NC_000006.12:g.154039507C>A, NC_000006.11:g.154360642=, NG_021208.2:g.34007C>T, NC_000006.11:g.154360642C>T, NG_021208.2:g.34007=, NC_000006.12:g.154039507C>T, NP_001138751.1:p.Ala81Val, NG_021208.2:g.34007C>A, NP_001138751.1:p.Ala81=, NP_001138751.1:p.Ala81Asp +PA166156850 rs9285669 PA165660569 SPINK14 NC_000005.10:148166889 1 1 0 0 0 9285669, 59690933, XM_005268449.1:c.-1751T>A, rs59690933, NC_000005.10:g.148166889T>G, NC_000005.9:g.147546452=, NC_000005.10:g.148166889=, rs9285669, NM_001001325.2:c.-1751T>A, NC_000005.10:g.148166889T>A, NC_000005.9:g.147546452T>G, NC_000005.9:g.147546452T>A +PA166153600 rs928655 PA134964409 GBP6 NC_000001.11:89384015 2 1 0 0 0 XM_005270549.1:c.1079-78G>A, NC_000001.10:g.89849574G>C, NC_000001.10:g.89849574G>A, NC_000001.11:g.89384015G>A, NM_198460.2:c.1469-78G>A, XM_005270548.1:c.1469-78G>A, 928655, rs928655, 59092167, NC_000001.11:g.89384015=, XM_011540835.1:c.1469-78G>A, NC_000001.10:g.89849574=, NC_000001.11:g.89384015G>C, rs59092167, XM_005270549.3:c.1079-78G>A +PA166156428 rs9288993 PA27479 DRD3 NC_000003.12:114140326 2 1 0 0 0 NM_001282563.2:c.527-630T>C, NM_033663.5:c.527-630T>C, NC_000003.11:g.113859173A>G, NC_000003.11:g.113859173=, NC_000003.12:g.114140326=, NM_000796.5:c.527-630T>C, NC_000003.12:g.114140326A>G, 59618470, XM_005247171.1:c.527-630T>C, XM_011512512.1:c.527-630T>C, NM_001290809.1:c.527-630T>C, XM_011512510.1:c.527-630T>C, NG_008842.2:g.64082=, rs59618470, XM_005247170.1:c.527-630T>C, rs9288993, XM_011512511.1:c.527-630T>C, 9288993, NG_008842.2:g.64082T>C +PA166153601 rs929087 PA56 FASLG NC_000001.11:172662917 1 0 0 0 0 NM_000639.2:c.395-1417A>G, NG_007269.1:g.8873A>C, rs929087, NG_007269.1:g.8873A>G, NC_000001.11:g.172662917A>C, NC_000001.10:g.172632057A>G, NC_000001.11:g.172662917=, NC_000001.11:g.172662917A>G, rs59072814, NG_007269.1:g.8873=, 929087, NC_000001.10:g.172632057A>C, rs3820655, 3820655, NC_000001.10:g.172632057=, 59072814, NM_000639.1:c.395-1417A>G, NM_001302746.1:c.349-1417A>G +PA166156851 rs9293392 NC_000005.10:84953148 1 0 0 0 0 rs61448289, rs17285076, 61448289, 17285076, rs9293392, 9293392, NC_000005.10:g.84953148=, NC_000005.9:g.84248966=, NC_000005.10:g.84953148C>T, NC_000005.9:g.84248966C>T +PA166156495 rs929446 PA27664 EGF NC_000004.12:109962188 1 0 0 0 0 XM_005262798.2:c.1312+203C>T, XM_005262800.1:c.1312+203C>T, XM_005262797.1:c.1186+203C>T, NG_011441.2:g.54305C>G, NC_000004.12:g.109962188C>G, NG_011441.2:g.54305=, XM_005262802.1:c.1312+203C>T, XM_005262800.2:c.1312+203C>T, NG_011441.2:g.54305C>T, NC_000004.11:g.110883344C>T, NC_000004.12:g.109962188=, XM_005262796.2:c.1312+203C>T, XM_005262798.1:c.1312+203C>T, XM_006714124.2:c.1312+203C>T, XM_005262797.2:c.1186+203C>T, XM_011531708.1:c.1312+203C>T, NC_000004.11:g.110883344=, XM_005262801.1:c.1312+203C>T, rs929446, 61627853, XR_427532.2:n.1765+203C>T, NM_001178130.2:c.1312+203C>T, 929446, NG_011441.1:g.54305C>T, XM_005262802.2:c.1312+203C>T, NC_000004.11:g.110883344C>G, rs61627853, NM_001178131.2:c.1186+203C>T, XM_011531709.1:c.1312+203C>T, XM_005262796.1:c.1312+203C>T, XM_005262799.1:c.1312+203C>T, NG_011441.1:g.54305C>G, XM_011531707.1:c.1201+203C>T, XR_938699.1:n.1765+203C>T, NC_000004.12:g.109962188C>T, NM_001963.5:c.1312+203C>T, NG_011441.1:g.54305=, XM_005262801.2:c.1312+203C>T +PA166153957 rs929493 PA325 SLC18A2 NC_000010.11:117259615 1 0 0 0 0 NC_000010.10:g.119019126C>T, 929493, rs60438643, NM_003054.4:c.991+1723C>T, NC_000010.10:g.119019126=, 60438643, 59180434, NC_000010.11:g.117259615C>T, rs929493, rs59180434, NC_000010.11:g.117259615= +PA166160141 rs929509 PA38657 GLCCI1 NC_000007.14:8086334 1 0 0 0 0 929509, NC_000007.13:g.8125964C>G, NC_000007.13:g.8125964=, 17854604, NC_000007.14:g.8086334C>T, NG_032073.1:g.122591C>G, rs929509, 10351541, NP_612435.1:p.Ser480=, 58088371, NC_000007.14:g.8086334=, 17329756, NC_000007.13:g.8125964C>T, NC_000007.14:g.8086334C>G, NG_032073.1:g.122591=, NG_032073.1:g.122591C>T +PA166176954 rs929740 NC_000005.10:73621913 1 1 0 0 0 NC_000005.10:g.73621913=, NG_017198.1:g.756=, NG_017198.2:g.756=, rs929740, 60340887, NC_000005.10:g.73621913G>A, NG_017198.1:g.756G>A, 929740, NC_000005.9:g.72917738G>A, NC_000005.9:g.72917738=, NG_017198.2:g.756G>A +PA166183963 rs9298629 NC_000008.11:42751043 1 0 0 0 0 9298629, rs9298629, NC_000008.11:g.42751043=, NC_000008.11:g.42751043G>A, NC_000008.10:g.42606186G>A, NC_000008.10:g.42606186=, NC_000008.11:g.42751043G>T, NC_000008.10:g.42606186G>T +PA166165186 rs9303363 PA134962267 STXBP4 NC_000017.11:55060613 1 0 0 0 0 NC_000017.10:g.53137974=, NC_000017.11:g.55060613A>G, rs9303363, 9303363, 56691877, NC_000017.11:g.55060613=, NC_000017.10:g.53137974A>T, 17818196, NC_000017.10:g.53137974A>G, NC_000017.11:g.55060613A>T, NC_000017.11:g.55060613A>C, NC_000017.10:g.53137974A>C +PA166204101 rs9303504 PA33759 PRKCA NC_000017.11:66319248 1 0 0 0 0 NC_000017.10:g.64315366G>C, NG_012206.1:g.21441=, 9303504, NC_000017.10:g.64315366=, NG_012206.1:g.21441G>C, rs9303504, NC_000017.11:g.66319248=, 58892855, NC_000017.11:g.66319248G>C +PA166161849 rs9304742 NC_000019.10:52948038 4 1 0 0 0 9304742, rs9304742, NC_000019.10:g.52948038T>C, NC_000019.9:g.53451291=, NC_000019.10:g.52948038=, 61162885, NC_000019.9:g.53451291T>C +PA166199042 rs9306160 PA162402138 RRP1B NC_000021.9:43687681 1 1 0 0 0 rs9306160, 9306160, NC_000021.8:g.45107562=, NC_000021.9:g.43687681T>A, NC_000021.9:g.43687681T>C, 17858827, NC_000021.9:g.43687681=, NC_000021.8:g.45107562T>C, NC_000021.8:g.45107562T>A, 17845854, NP_055871.1:p.Leu436Pro, 17292685, NP_055871.1:p.Leu436Gln, NP_055871.1:p.Leu436= +PA166156132 rs9306356 PA36386 TCF20 NC_000022.11:42171084 1 0 0 0 0 XM_011548821.1:c.5750-1189A>G, XM_011530354.1:c.5750-1188A>G, NG_028982.1:g.49356A>G, XM_011530353.1:c.5750-1188A>G, XM_005276955.1:c.5750-1179A>G, NC_000022.10:g.42567090T>C, NW_009646208.1:g.70353T>C, XM_011547752.1:c.5750-1188A>G, XM_011547035.1:c.5750-1179A>G, XM_011530355.1:c.5750-1188A>G, XM_011547036.1:c.5750-1179A>G, NC_000022.10:g.42567090=, NC_000022.11:g.42171084T>C, XM_011547753.1:c.5750-1188A>G, XM_011548817.1:c.5750-1188A>G, NW_009646207.1:g.73888T>C, XM_005261724.1:c.5750-1188A>G, NG_028982.3:g.177533=, NG_028982.3:g.177533A>G, XM_006724313.2:c.5750-1188A>G, NM_181492.2:c.5750-1188A>G, NM_005650.2:c.5750-1188A>G, NC_000022.11:g.42171084=, XM_005276957.1:c.5750-1179A>G, XM_011530352.1:c.5750-1188A>G, XM_011548818.1:c.5750-1188A>G, XM_005261722.2:c.5750-1188A>G, XM_005261723.1:c.5750-1188A>G, NT_187682.1:g.93429T>C, XM_005261722.1:c.5750-1188A>G, XM_011548820.1:c.5750-1189A>G, XM_005276956.1:c.5750-1179A>G, rs9306356, NM_005650.3:c.5750-1188A>G, NW_003315971.2:g.81267T>C, 9306356 +PA166177115 rs9310657 PA162410152 ZNF385D NC_000003.12:21756083 1 1 0 0 0 NC_000003.12:g.21756083=, NC_000003.11:g.21797575T>G, NC_000003.12:g.21756083T>G, rs9310657, 9310657, NC_000003.11:g.21797575= +PA166177116 rs9310658 PA162410152 ZNF385D NC_000003.12:21756084 1 1 0 0 0 199696115, NC_000003.11:g.21797576=, 9310658, 76312628, 35992266, NC_000003.12:g.21756084=, rs9310658, NC_000003.12:g.21756084C>T, NC_000003.11:g.21797576C>T +PA166154730 rs9315310 PA31454 NBEA NC_000013.11:34777294 1 1 0 0 0 NC_000013.10:g.35351431T>A, 9315310, 58294854, NC_000013.10:g.35351431=, rs9315310, NC_000013.10:g.35351431T>C, NC_000013.11:g.34777294T>C, NC_000013.10:g.35351431T>G, NC_000013.11:g.34777294T>A, rs56610941, NC_000013.11:g.34777294T>G, NC_000013.11:g.34777294=, rs58294854, 56610941 +PA166154731 rs9315885 PA27315 DGKH NC_000013.11:42068674 1 0 0 0 0 rs9315885, 9315885, NG_029191.3:g.33639=, NC_000013.11:g.42068674C>T, 58224259, rs17595763, NM_152910.5:c.192+19709C>T, NG_002453.4:g.3305=, NG_002453.4:g.3305G>A, NM_178009.4:c.192+19709C>T, 17595763, NG_029191.3:g.33639C>T, NC_000013.10:g.42642810=, XM_005266270.1:c.192+19709C>T, NC_000013.11:g.42068674=, NC_000013.10:g.42642810C>T, NM_001204504.2:c.192+19709C>T, rs58224259 +PA166154732 rs9316233 PA193 HTR2A NC_000013.11:46859220 2 1 0 0 0 NM_001165947.2:c.362-23581G>C, NC_000013.10:g.47433355=, rs9316233, 9316233, NC_000013.10:g.47433355C>A, NM_000621.4:c.614-23581G>C, NG_013011.1:g.42815G>A, NG_013011.1:g.42815G>C, NC_000013.10:g.47433355C>G, rs57868858, NC_000013.11:g.46859220C>T, 57868858, NC_000013.10:g.47433355C>T, NG_013011.1:g.42815=, NG_013011.1:g.42815G>T, NC_000013.11:g.46859220C>A, NC_000013.11:g.46859220=, NC_000013.11:g.46859220C>G +PA166156496 rs931635 PA24570 ADH1A NC_000004.12:99289690 1 0 0 0 0 1693434, NM_000667.3:c.18+1207T>C, rs1693434, 59861732, 931635, NC_000004.11:g.100210847=, 59523765, NC_000004.11:g.100210847A>G, NC_000004.12:g.99289690=, NC_000004.12:g.99289690A>G, rs59523765, rs59861732, NR_037884.1:n.4148+905A>G, rs931635 +PA166157136 rs9320773 NC_000006.12:120855351 1 0 0 0 0 NC_000006.11:g.121176497=, rs56690353, NC_000006.12:g.120855351=, NC_000006.12:g.120855351G>A, rs9320773, NC_000006.11:g.121176497G>A, 9320773, 56690353 +PA166157137 rs9322335 PA156 ESR1 NC_000006.12:151878994 2 1 0 0 0 NM_001122740.1:c.644-1661T>C, 57771517, NM_000125.3:c.644-1661T>C, NC_000006.12:g.151878994T>C, XM_005266857.1:c.644-1661T>C, XM_005266856.1:c.650-1661T>C, XM_011535548.1:c.125-1661T>C, rs57694489, NG_008493.2:g.227304T>C, 57694489, NC_000006.12:g.151878994=, XM_011535545.1:c.644-1661T>C, XM_006715375.2:c.125-1661T>C, NC_000006.11:g.152200129T>C, rs9322335, 9322335, rs56644801, XM_011535544.1:c.644-1661T>C, XM_011535547.1:c.644-1661T>C, NM_001291230.1:c.650-1661T>C, NM_001122741.1:c.644-1661T>C, NM_001291241.1:c.644-1661T>C, 56644801, XM_006715374.2:c.644-1661T>C, NC_000006.11:g.152200129=, rs57771517, NM_001122742.1:c.644-1661T>C, NG_008493.1:g.193499T>C, XM_011535546.1:c.644-1661T>C, XM_011535543.1:c.644-1661T>C, NG_008493.2:g.227304= +PA166157138 rs9322336 PA156 ESR1 NC_000006.12:151879295 1 0 0 0 0 NM_001291241.1:c.644-1360C>T, NM_001291230.1:c.650-1360C>T, NM_001122741.1:c.644-1360C>T, XM_011535544.1:c.644-1360C>T, XM_011535547.1:c.644-1360C>T, XM_011535546.1:c.644-1360C>T, NC_000006.12:g.151879295=, NC_000006.12:g.151879295C>T, XM_006715374.2:c.644-1360C>T, rs9322336, XM_011535543.1:c.644-1360C>T, NM_001122742.1:c.644-1360C>T, 9322336, XM_005266857.1:c.644-1360C>T, NG_008493.2:g.227605C>T, XM_011535548.1:c.125-1360C>T, NM_001122740.1:c.644-1360C>T, rs56460099, 60870760, NC_000006.11:g.152200430=, NG_008493.1:g.193800C>T, NM_000125.3:c.644-1360C>T, XM_006715375.2:c.125-1360C>T, rs60870760, XM_005266856.1:c.650-1360C>T, NC_000006.11:g.152200430C>T, XM_011535545.1:c.644-1360C>T, 56460099, NG_008493.2:g.227605= +PA166180105 rs9322446 PA31945 OPRM1 NC_000006.12:154087567 1 0 0 0 0 17275827, NG_021208.2:g.82067G>A, NC_000006.12:g.154087567=, rs9322446, NC_000006.12:g.154087567G>A, NG_021208.2:g.82067=, 59013915, 56486116, NC_000006.11:g.154408702G>A, NC_000006.11:g.154408702=, 9322446 +PA166183706 rs9322447 PA31945 OPRM1 NC_000006.12:154103186 2 0 0 0 0 NC_000006.11:g.154424321A>T, 17276266, NG_021208.2:g.97686=, NG_021208.2:g.97686A>G, NG_021208.2:g.97686A>T, NC_000006.12:g.154103186A>C, 59521864, NC_000006.11:g.154424321A>G, NC_000006.11:g.154424321A>C, NC_000006.12:g.154103186=, NC_000006.12:g.154103186A>G, NC_000006.12:g.154103186A>T, 52799691, NC_000006.11:g.154424321=, NG_021208.2:g.97686A>C, rs9322447, 9322447 +PA166206203 rs9322453 PA164721033,PA31945 IPCEF1,OPRM1 NC_000006.12:154247041 2 0 0 0 0 NG_021208.2:g.241541=, rs9322453, NC_000006.12:g.154247041=, 60636382, NC_000006.11:g.154568175=, NC_000006.11:g.154568175G>C, 9322453, NG_021208.2:g.241541G>C, NC_000006.12:g.154247041G>C +PA166181007 rs9324918 PA181 NR3C1 NC_000005.10:143387595 1 0 0 0 0 NC_000005.10:g.143387595=, NC_000005.9:g.142767160T>C, 386621713, rs9324918, 9324918, NG_009062.1:g.52918=, NC_000005.10:g.143387595T>C, 56845286, NG_009062.1:g.52918A>G, NC_000005.9:g.142767160= +PA166232243 rs9325202 PA128747823 TPH2 NC_000012.12:72013697 1 0 0 0 0 rs9325202, 9325202, NC_000012.11:g.72407477=, NG_008279.1:g.79852=, NC_000012.12:g.72013697=, NC_000012.12:g.72013697A>G, NC_000012.11:g.72407477A>G, 57197771, NG_008279.1:g.79852A>G +PA166199007 rs932764 PA33391 PLCE1 NC_000010.11:94136183 1 1 0 0 0 NC_000010.10:g.95895940A>G, NG_015799.1:g.147195A>G, rs932764, NG_015799.1:g.147195=, 932764, NG_015799.1:g.147195A>T, NC_000010.11:g.94136183A>G, NC_000010.10:g.95895940=, NC_000010.11:g.94136183=, NC_000010.11:g.94136183A>T, NC_000010.10:g.95895940A>T +PA166157139 rs9328202 NC_000006.12:3887105 1 0 0 0 0 NC_000006.12:g.3887105C>A, 9328202, NC_000006.11:g.3887339=, rs9328202, 61183377, NC_000006.11:g.3887339C>A, NC_000006.12:g.3887105=, rs61183377 +PA166160963 rs9332092 PA126 CYP2C9 NC_000010.11:94936772 1 0 0 0 0 9332092, NG_008385.2:g.3615=, NG_055435.1:g.2303T>C, 59396085, NG_008385.2:g.3615T>C, 58135841, NC_000010.10:g.96696529T>C, NG_008385.1:g.3115=, NC_000010.11:g.94936772T>C, NC_000010.10:g.96696529=, NC_000010.11:g.94936772=, NG_055435.1:g.2303=, NG_008385.1:g.3115T>C, rs9332092, 386621784, 41445644 +PA166154096 rs9332094 PA126 CYP2C9 NC_000010.11:94936917 1 0 0 0 0 rs9332094, XM_005269575.1:c.-1766T>C, rs61444591, 9332094, NG_008385.1:g.3260T>C, NC_000010.11:g.94936917=, NC_000010.10:g.96696674T>C, NM_000771.3:c.-1766T>C, NC_000010.10:g.96696674=, NG_008385.2:g.3760T>C, NC_000010.11:g.94936917T>C, NG_055435.1:g.2448T>C, NG_008385.1:g.3260=, 61444591, NG_008385.2:g.3760=, NG_055435.1:g.2448= +PA166154097 rs9332096 PA126 CYP2C9 NC_000010.11:94937118 4 2 0 0 0 NG_008385.2:g.3961C>T, rs9332096, 9332096, NG_055435.1:g.2649C>T, NG_008385.2:g.3961=, NG_008385.1:g.3461C>T, NC_000010.10:g.96696875=, NG_008385.1:g.3461=, NC_000010.11:g.94937118C>T, NM_000771.3:c.-1565C>T, XM_005269575.1:c.-1565C>T, NC_000010.11:g.94937118=, NC_000010.10:g.96696875C>T, NG_055435.1:g.2649= +PA166160965 rs9332098 PA126 CYP2C9 NC_000010.11:94937702 1 0 0 0 0 59890169, NC_000010.10:g.96697459=, rs9332098, NG_055435.1:g.3233G>A, 9332098, NG_055435.1:g.3233=, NG_008385.1:g.4045G>A, NC_000010.11:g.94937702G>A, NC_000010.10:g.96697459G>A, NG_008385.2:g.4545=, NG_008385.2:g.4545G>A, NG_008385.1:g.4045=, NC_000010.11:g.94937702= +PA166154098 rs9332104 PA126 CYP2C9 NC_000010.11:94938933 1 0 0 0 0 58097354, NC_000010.10:g.96698690=, XM_005269575.1:c.168+83T>C, NC_000010.11:g.94938933=, rs9332104, NM_000771.3:c.168+83T>C, 9332104, NG_008385.1:g.5276=, NG_008385.2:g.5776=, NG_008385.2:g.5776T>C, NC_000010.10:g.96698690T>C, rs58097354, NG_008385.1:g.5276T>C, NC_000010.11:g.94938933T>C +PA166154099 rs9332120 PA126 CYP2C9 NC_000010.11:94942093 2 0 0 0 0 NC_000010.11:g.94942093T>C, rs9332120, NG_008385.2:g.8936=, 9332120, NG_008385.1:g.8436=, NG_008385.2:g.8936T>C, NC_000010.10:g.96701850T>C, XM_005269575.1:c.331+73T>C, NC_000010.11:g.94942093=, NC_000010.10:g.96701850=, NM_000771.3:c.331+73T>C, NG_008385.1:g.8436T>C +PA166154100 rs9332127 PA126 CYP2C9 NC_000010.11:94947714 2 0 0 0 0 NC_000010.11:g.94947714=, NC_000010.10:g.96707471G>C, NM_000771.3:c.482-65G>C, rs17847038, NG_008385.2:g.14557=, XM_005269575.1:c.482-65G>C, rs9332127, 9332127, NC_000010.10:g.96707471=, 17847038, NG_008385.2:g.14557G>C, 58304507, rs58304507, NG_008385.1:g.14057=, NC_000010.11:g.94947714G>C, NG_008385.1:g.14057G>C +PA166154101 rs9332130 PA126 CYP2C9 NC_000010.11:94949280 1 0 0 0 0 NP_000762.2:p.Glu272Gly, NP_000762.2:p.Glu272=, rs9332130, XM_005269575.1:c.815A>G, 9332130, NG_008385.1:g.15623A>G, NG_008385.1:g.15623=, NC_000010.10:g.96709037=, NG_008385.2:g.16123A>G, NC_000010.10:g.96709037A>G, NM_000771.3:c.815A>G, NG_008385.2:g.16123=, XP_005269632.1:p.Glu272Gly, NC_000010.11:g.94949280A>G, NC_000010.11:g.94949280= +PA166154102 rs9332131 PA126 CYP2C9 NC_000010.11:94949283 20 6 6 0 0 386621785, NC_000010.10:g.96709039_96709040=, NG_008385.1:g.15625_15626=, NC_000010.10:g.96709039delA, rs9332131, NG_008385.1:g.15625delA, 9332131, NP_000762.2:p.Lys273fs, NP_000762.2:p.Lys273Argfs, NG_008385.2:g.16126del, XM_005269575.1:c.817delA, XP_005269632.1:p.Lys273Argfs, NC_000010.11:g.94949283del, NG_008385.1:g.15626del, NG_008385.2:g.16125_16126=, NC_000010.11:g.94949282_94949283=, NP_000762.2:p.Lys273=, NC_000010.11:g.94949282delA, NM_000771.3:c.817delA, NC_000010.10:g.96709040del +PA166154103 rs9332174 PA126 CYP2C9 NC_000010.11:94972340 1 0 0 0 0 NC_000010.10:g.96732097A>G, rs9332174, 9332174, NG_008385.2:g.39183=, 17521927, NG_008385.1:g.38683=, NM_000771.3:c.961+95A>G, 60502756, XM_005269575.1:c.961+95A>G, NC_000010.11:g.94972340=, rs60502756, NG_008385.1:g.38683A>G, NC_000010.10:g.96732097=, rs17521927, NG_008385.2:g.39183A>G, NC_000010.11:g.94972340A>G +PA166154104 rs9332197 PA126 CYP2C9 NC_000010.11:94981151 1 0 0 0 0 NC_000010.11:g.94981151T>C, 60905497, rs9332197, NG_008385.1:g.47494T>C, NG_008385.2:g.47994T>C, 9332197, NG_008385.2:g.47994=, NM_000771.3:c.962-32T>C, NC_000010.11:g.94981151=, XM_005269575.1:c.962-32T>C, NC_000010.10:g.96740908=, rs60905497, NG_008385.1:g.47494=, NC_000010.10:g.96740908T>C +PA166154105 rs9332238 PA126 CYP2C9 NC_000010.11:94988735 1 0 0 0 0 NM_000771.3:c.1292-112G>A, XM_005269575.1:c.1275-731G>A, NG_008385.2:g.55578=, NG_008385.1:g.55078G>A, NC_000010.11:g.94988735G>A, NC_000010.10:g.96748492=, NG_008385.2:g.55578G>A, NG_008385.1:g.55078=, rs9332238, NC_000010.11:g.94988735=, NC_000010.10:g.96748492G>A, 9332238 +PA166154106 rs9332239 PA126 CYP2C9 NC_000010.11:94989020 4 1 0 0 0 NM_000771.3:c.1465C>T, NP_000762.2:p.Pro489Ser, XM_005269575.1:c.1275-446C>T, NG_008385.2:g.55863=, NC_000010.11:g.94989020=, rs59029001, NP_000762.2:p.Pro489=, NC_000010.10:g.96748777=, rs9332239, 9332239, NG_008385.1:g.55363C>T, NG_008385.2:g.55863C>T, NG_008385.1:g.55363=, NC_000010.11:g.94989020C>T, NC_000010.10:g.96748777C>T, 59029001 +PA166281241 rs9332241 PA126 CYP2C9 NC_000010.11:94989116 1 0 0 0 0 NC_000010.10:g.96748873=, rs9332241, NC_000010.11:g.94989116C>T, 9332241, 56558878, 58390481, NG_008385.2:g.55959=, NG_008385.2:g.55959C>T, NC_000010.11:g.94989116=, NC_000010.10:g.96748873C>T +PA166267582 rs9332245 PA126 CYP2C9 NC_000010.11:94989424 1 0 0 0 0 NC_000010.10:g.96749181=, NC_000010.10:g.96749181T>A, NG_008385.2:g.56267T>C, NG_008385.2:g.56267T>A, rs9332245, NC_000010.11:g.94989424T>C, 9332245, NC_000010.11:g.94989424T>A, 17847031, 17110305, NG_008385.2:g.56267=, 61388651, NC_000010.11:g.94989424=, NC_000010.10:g.96749181T>C +PA166156133 rs9332377 PA25018,PA117 ARVCF,COMT NC_000022.11:19968169 9 2 0 0 0 NG_011526.1:g.31430C>T, XM_011530182.1:c.1348-960G>A, NC_000022.10:g.19955692C>T, XM_011529885.1:c.*742C>T, NM_001135161.1:c.616-367C>T, XM_011529891.1:c.*742C>T, NG_023326.1:g.53618G>T, rs9332377, XM_011530179.1:c.2749-960G>A, NG_023326.1:g.53618=, 9332377, 60676269, NM_000754.3:c.616-367C>T, NC_000022.11:g.19968169=, NC_000022.10:g.19955692C>A, XM_011529889.1:c.*742C>T, XM_011529888.1:c.*742C>T, NG_011526.1:g.31430C>A, XM_011529887.1:c.*742C>T, rs60676269, XM_005261229.1:c.616-367C>T, XM_006724246.2:c.2536-960G>A, NM_007310.2:c.466-367C>T, NC_000022.11:g.19968169C>T, XM_005261242.1:c.2764-960G>A, XM_011529886.1:c.730-367C>T, NG_023326.1:g.53618G>A, XM_006724243.1:c.2782-960G>A, NC_000022.10:g.19955692=, NC_000022.11:g.19968169C>A, NM_001135162.1:c.616-367C>T, XM_011529890.1:c.*742C>T, NG_011526.1:g.31430= +PA166232826 rs9332695 PA159 F5 NC_000001.11:169542347 1 0 0 0 0 NG_011806.1:g.49185=, 386429315, NP_000121.2:p.Thr915=, rs9332695, 9332695, NC_000001.11:g.169542347T>A, NC_000001.10:g.169511585T>A, NG_011806.1:g.49185A>T, NC_000001.10:g.169511585=, NC_000001.11:g.169542347=, NP_000121.2:p.Thr915Ser +PA166156059 rs933271 PA117,PA38302 COMT,TXNRD2 NC_000022.11:19943884 3 1 0 0 0 rs36111598, 60165110, XM_011529890.1:c.-386+1987T>C, NG_011835.1:g.2953A>T, rs933271, NM_001282512.1:c.-2081A>G, NG_011526.1:g.7145T>A, NG_011526.1:g.7145T>C, 36111598, NC_000022.11:g.19943884T>A, rs60165110, NC_000022.10:g.19931407=, XM_005261229.1:c.-386+1987T>C, NC_000022.11:g.19943884T>C, XM_011529887.1:c.-92+1987T>C, XM_011529891.1:c.-386+1709T>C, NG_011526.1:g.7145=, NG_011835.1:g.2953=, NG_011835.1:g.2953A>G, NM_000754.3:c.-92+1987T>C, NM_006440.4:c.-2081A>G, NC_000022.10:g.19931407T>A, NC_000022.10:g.19931407T>C, 933271, NC_000022.11:g.19943884= +PA166157140 rs9332739 PA25637 C2 NC_000006.12:31936027 1 0 0 0 0 NP_001139375.1:p.Glu186Asp, NM_001178063.2:c.347-1292G>C, NP_000054.2:p.Glu318=, NM_001282457.1:c.216G>C, 111255853, NM_000063.4:c.954G>C, NT_167245.2:g.3183806G>C, NT_167248.2:g.3192001G>C, 52807427, NT_167247.1:g.3283648G>C, NT_167249.2:g.3237216G>C, rs114895340, rs111255853, NR_104191.1:n.541-625C>G, NC_000006.11:g.31903804=, NM_001282458.1:c.867G>C, NT_113891.2:g.3413560G>C, NT_167245.1:g.3189391G>C, NG_011730.1:g.13539G>A, NG_011730.1:g.13539G>C, NT_167248.1:g.3197597G>C, NM_001145903.2:c.558G>C, NP_001269386.1:p.Glu72Asp, rs52807427, 114895340, NC_000006.12:g.31936027=, NP_001269387.1:p.Glu289Asp, NT_167247.2:g.3278063G>C, 140174264, rs9332739, NC_000006.12:g.31936027G>C, NT_113891.3:g.3413454G>C, 9332739, NG_011730.1:g.13539=, NC_000006.11:g.31903804G>C, NC_000006.12:g.31936027G>A, NT_167246.2:g.3240990G>C, NC_000006.11:g.31903804G>A, NP_000054.2:p.Glu318Asp, NR_073063.1:n.437G>C, NM_000063.5:c.954G>C, NT_167246.1:g.3246610G>C, rs140174264, NT_167249.1:g.3236514G>C +PA166161790 rs9332978 PA27118 CYP4A11 NC_000001.11:46942278 1 0 0 0 0 rs9332978, 9332978, NC_000001.11:g.46942278T>C, NG_007932.1:g.4207A>G, NC_000001.11:g.46942278=, NC_000001.10:g.47407950=, NC_000001.10:g.47407950T>C, NG_007932.1:g.4207= +PA166157141 rs9333569 PA356 TPMT NC_000006.12:18149127 3 0 0 0 0 NG_012137.2:g.11017=, NC_000006.12:g.18149127=, 386621910, NC_000006.11:g.18149358=, XM_011514839.1:c.1A>G, rs9333569, NP_000358.1:p.Met1=, 9333569, NC_000006.11:g.18149358T>C, XP_011513141.1:p.Met1Val, NG_012137.2:g.11017A>G, rs386621910, NC_000006.12:g.18149127T>C, NM_000367.3:c.1A>G, NP_000358.1:p.Met1Val, XM_011514840.1:c.-83A>G +PA166157142 rs9333570 PA356 TPMT NC_000006.12:18133890 1 0 0 0 0 rs9333570, NC_000006.12:g.18133890C>T, XM_011514840.1:c.426-1G>A, NG_012137.2:g.26254G>A, 386621911, 9333570, NC_000006.12:g.18133890=, NC_000006.11:g.18134121=, rs386621911, NG_012137.2:g.26254=, NC_000006.11:g.18134121C>T, XM_011514839.1:c.495-1G>A, NM_000367.3:c.495-1G>A +PA166157143 rs9340799 PA156 ESR1 NC_000006.12:151842246 9 4 0 0 0 NC_000006.11:g.152163381A>G, XM_011535547.1:c.453-351A>G, NM_001122741.1:c.453-351A>G, NM_001291241.1:c.453-351A>G, rs17208058, NC_000006.12:g.151842246A>G, XM_005266857.1:c.453-351A>G, XM_006715374.2:c.453-351A>G, NC_000006.12:g.151842246=, NM_001122740.1:c.453-351A>G, XM_011535543.1:c.453-351A>G, 17208058, NG_008493.1:g.156751A>G, NG_008493.2:g.190556=, NM_000125.3:c.453-351A>G, rs59875577, XM_011535544.1:c.453-351A>G, NC_000006.11:g.152163381=, XM_005266856.1:c.453-351A>G, NM_001291230.1:c.453-351A>G, XM_011535546.1:c.453-351A>G, 59875577, XM_011535548.1:c.-67-351A>G, NG_008493.2:g.190556A>G, XM_011535545.1:c.453-351A>G, 9340799, rs9340799, XM_006715375.2:c.-67-351A>G, NM_001122742.1:c.453-351A>G +PA166179568 rs9342288 PA164719488 EYS NC_000006.12:64477153 1 1 0 0 0 56547393, NC_000006.11:g.65187046G>A, 9342288, NC_000006.11:g.65187046=, rs9342288, NG_023443.2:g.1235073C>T, 60593809, NG_023443.2:g.1235073=, NC_000006.12:g.64477153G>A, NC_000006.12:g.64477153= +PA166154264 rs9344 PA75 CCND1 NC_000011.10:69648142 15 6 0 0 0 9344, rs3191361, rs1131451, 17349816, 1131451, 17359282, NC_000011.9:g.69462910G>A, XM_006718653.2:c.747G>A, rs2227951, rs17349816, 3191361, NG_007375.1:g.12038G>A, NP_444284.1:p.Pro241=, rs11557586, rs17359282, 2227951, rs17852153, NG_007375.1:g.12038=, XP_006718716.1:p.Pro249=, 17852153, NM_053056.2:c.723G>A, rs9344, NC_000011.10:g.69648142=, rs603965, 17295377, 59807553, rs59807553, NC_000011.9:g.69462910=, rs17295377, 11557586, 603965, NC_000011.10:g.69648142G>A +PA166157144 rs9345389 NC_000006.12:93730886 2 2 0 0 0 rs58119272, XR_241851.1:n.2011-1109A>G, XR_241852.1:n.2084-5735A>G, 9345389, NR_015362.1:n.1869-5735A>G, NC_000006.12:g.93730886A>C, NC_000006.11:g.94440604A>G, NC_000006.12:g.93730886A>G, 58119272, NC_000006.12:g.93730886=, NC_000006.11:g.94440604A>C, rs9345389, XR_241850.1:n.1869-5735A>G, NC_000006.11:g.94440604= +PA166154853 rs934635 NC_000015.10:51186580 2 1 0 0 0 NC_000015.10:g.51186580G>A, NC_000015.9:g.51478777G>A, rs934635, 56506595, 59112598, 58259065, NC_000015.9:g.51478777=, 934635, XR_932222.1:n.99-91403G>A, rs56506595, rs58259065, rs59112598, NC_000015.10:g.51186580= +PA166157145 rs9346455 NC_000006.12:71282113 1 1 0 0 0 XR_942680.1:n.653+1661A>C, NC_000006.12:g.71282113=, rs9346455, NC_000006.11:g.71991816=, NC_000006.12:g.71282113T>G, 9346455, NC_000006.11:g.71991816T>G, 61340169, rs61340169, XR_942681.1:n.455+28183A>C +PA166184517 rs934778 PA33526 POMC NC_000002.12:25166355 1 0 0 0 0 NG_008997.1:g.7336T>C, rs934778, NC_000002.11:g.25389224A>G, NG_008997.1:g.7336=, 934778, NC_000002.11:g.25389224=, 58235294, NC_000002.12:g.25166355=, NC_000002.12:g.25166355A>G +PA166157146 rs9349256 PA24392 ABCC10 NC_000006.12:43436773 3 2 0 0 0 XM_011514984.1:c.1875+526G>A, XM_011514978.1:c.1758+526G>A, XM_011514975.1:c.1875+526G>A, NC_000006.11:g.43404511=, XM_005249465.1:c.1875+526G>A, XM_011514981.1:c.1875+526G>A, XM_011514983.1:c.543+526G>A, NM_033450.2:c.1791+526G>A, XM_005249468.1:c.1875+526G>A, rs9349256, NC_000006.12:g.43436773G>A, XR_926335.1:n.2027+526G>A, NC_000006.12:g.43436773=, 9349256, XM_011514986.1:c.-1293G>A, XM_011514982.1:c.543+526G>A, XM_011514985.1:c.-1616G>A, XM_005249469.1:c.-1616G>A, XM_005249466.1:c.1875+526G>A, XM_011514976.1:c.1875+526G>A, rs59509869, XM_005249470.1:c.1875+526G>A, XM_011514980.1:c.1875+526G>A, XM_011514979.1:c.1875+526G>A, 59509869, NM_001198934.1:c.1875+526G>A, XM_005249467.1:c.1875+526G>A, XR_926334.1:n.2020+526G>A, NC_000006.11:g.43404511G>A, XM_011514974.1:c.1875+526G>A, XM_011514977.1:c.1875+526G>A +PA166185597 rs9349379 PA134923900 PHACTR1 NC_000006.12:12903725 1 0 0 0 0 NC_000006.12:g.12903725=, NC_000006.11:g.12903957=, NC_000006.12:g.12903725A>T, rs9349379, 9349379, NC_000006.12:g.12903725A>C, 58957411, NC_000006.11:g.12903957A>C, NC_000006.12:g.12903725A>G, NC_000006.11:g.12903957A>G, 17679549, NC_000006.11:g.12903957A>T +PA166157147 rs9351963 PA30077 KCNQ5 NC_000006.12:73040138 1 1 0 0 0 NG_047170.1:g.423859=, NM_001160133.1:c.490-1798A>C, XM_011535944.1:c.490-1798A>C, NC_000006.12:g.73040138A>G, NG_047170.1:g.423859A>C, NC_000006.11:g.73749861A>C, NM_001160130.1:c.490-1798A>C, 9351963, NC_000006.11:g.73749861A>G, NM_019842.3:c.490-1798A>C, rs9351963, NC_000006.12:g.73040138=, NM_001160134.1:c.490-1798A>C, XM_005248734.1:c.-9-1798A>C, NC_000006.11:g.73749861=, NC_000006.12:g.73040138A>C, NG_047170.1:g.423859A>G, NM_001160132.1:c.490-1798A>C +PA166157148 rs9357155 PA33890,PA35022 PSMB8,TAP2 NC_000006.12:32842071 1 0 0 0 0 NT_167244.2:g.4146936G=, NT_167248.1:g.4041955G=, NT_113891.2:g.4254376G=, NG_028165.1:g.7865=, NT_113891.3:g.4254270G=, NG_009793.3:g.1700=, NT_167248.2:g.4036359G=, 117354688, rs117354688, NT_167245.1:g.4091226A>G, rs9357155, 9357155, NT_167249.1:g.4240621G=, NT_167245.1:g.4091226A=, NM_148919.3:c.537+63C>T, 145596260, NG_009793.3:g.1700C>G, NG_028165.1:g.7865C=, NC_000006.12:g.32842071=, NC_000006.12:g.32842071G>A, XM_005275000.1:c.438+63T>C, NC_000006.12:g.32842071G>C, NT_113891.2:g.4254376G>A, NT_113891.3:g.4254270G>A, 58235445, NT_167245.2:g.4085641A=, NT_167246.2:g.4261424G>A, NC_000006.11:g.32809848G=, NM_004159.4:c.525+63C>T, NG_009793.3:g.1700C>T, NT_167246.1:g.4267044G=, rs115428476, NT_167249.2:g.4241323G>A, NG_028165.1:g.7865C>T, NC_000006.11:g.32809848G>C, NC_000006.11:g.32809848G>A, NT_167248.1:g.4041955G>A, NC_000006.11:g.32809848=, NT_167244.2:g.4146936G>A, NT_167247.1:g.4146725G>A, NG_028165.1:g.7865C>G, NC_000006.12:g.32842071G=, NT_167246.2:g.4261424G=, NT_167248.2:g.4036359G>A, NG_009793.3:g.1700C=, 115428476, NT_167244.1:g.4096852G>A, NT_167249.1:g.4240621G>A, NM_148919.3:c.537+63T>C, NT_167247.2:g.4141140G=, rs58235445, NT_167247.2:g.4141140G>A, rs145596260, NT_167249.2:g.4241323G=, NT_167247.1:g.4146725G=, XM_005275000.1:c.438+63C>T, NT_167245.2:g.4085641A>G, NT_167244.1:g.4096852G=, NT_167246.1:g.4267044G>A, NM_004159.4:c.525+63T>C +PA166163186 rs9361233 NC_000006.12:77460345 1 1 0 0 0 NC_000006.11:g.78170062T>C, NC_000006.12:g.77460345T>C, rs9361233, 9361233, NC_000006.11:g.78170062=, NC_000006.12:g.77460345= +PA166163188 rs9361235 NC_000006.12:77466125 1 0 0 0 0 60021341, NC_000006.11:g.78175842C>T, rs9361235, NC_000006.12:g.77466125C>T, 9361235, NC_000006.11:g.78175842=, NC_000006.12:g.77466125= +PA166182351 rs9366772 NC_000006.12:31261561 1 1 0 0 0 NC_000006.11:g.31229338G>A, NC_000006.12:g.31261561=, 9366772, rs9366772, NC_000006.11:g.31229338=, NC_000006.12:g.31261561G>A, 111361782 +PA166177184 rs9369266 PA134993202 TREML4 NC_000006.12:41232816 1 1 0 0 0 NC_000006.11:g.41200554A>G, NC_000006.12:g.41232816A>G, NC_000006.11:g.41200554=, 61506636, NC_000006.12:g.41232816A>C, 9369266, rs9369266, NC_000006.11:g.41200554A>C, NC_000006.12:g.41232816= +PA166157149 rs9369421 PA37302 VEGFA NC_000006.12:43794385 2 2 0 0 0 rs52800915, 52800915, NC_000006.12:g.43794385T>C, 9369421, NC_000006.12:g.43794385=, NC_000006.11:g.43762122=, rs9369421, NC_000006.11:g.43762122T>C +PA166157150 rs9370867 PA134942677 MYLIP NC_000006.12:16145094 1 1 0 0 0 XM_005249032.2:c.860A>G, NP_037394.2:p.Asn342Ile, NC_000006.12:g.16145094A>C, NC_000006.12:g.16145094=, rs59084742, XM_005249033.2:c.482A>G, NC_000006.11:g.16145325=, rs9370867, NM_013262.3:c.1025A>G, NC_000006.11:g.16145325A>T, 9370867, NC_000006.12:g.16145094A>G, XM_005249033.1:c.482A>G, NC_000006.12:g.16145094A>T, NP_037394.2:p.Asn342=, NC_000006.11:g.16145325A>G, 59084742, XM_005249032.1:c.860A>G, NC_000006.11:g.16145325A>C, NP_037394.2:p.Asn342Thr, NP_037394.2:p.Asn342Ser, XP_005249089.1:p.Asn287Ser, XP_005249090.1:p.Asn161Ser +PA166184582 rs9371773 PA31945 OPRM1 NC_000006.12:154085461 1 0 0 0 0 NC_000006.12:g.154085461G>A, NC_000006.12:g.154085461=, NC_000006.11:g.154406596G>A, NG_021208.2:g.79961G>A, rs9371773, 9371773, NC_000006.11:g.154406596=, 57754311, NG_021208.2:g.79961= +PA166180112 rs9371776 PA31945 OPRM1 NC_000006.12:154120430 2 0 0 0 0 17174984, NC_000006.12:g.154120430G>A, NC_000006.11:g.154441565=, rs9371776, 9371776, NC_000006.11:g.154441565G>A, NC_000006.12:g.154120430=, NG_021208.2:g.114930=, NG_021208.2:g.114930G>A +PA166157151 rs9373839 PA24880 ATG5 NC_000006.12:106207742 2 1 0 0 0 9373839, 17441272, NC_000006.12:g.106207742=, NM_001286107.1:c.340-5653A>G, XM_011536263.1:c.*10-5653A>G, NM_001286106.1:c.574-5653A>G, NM_001286108.1:c.570-5653A>G, rs9373839, NC_000006.11:g.106655617T>C, NR_104402.1:n.537-5653A>G, rs17441272, XM_005267231.1:c.340-5653A>G, NC_000006.11:g.106655617=, NC_000006.12:g.106207742T>C, NM_001286111.1:c.204-5653A>G, NM_004849.3:c.574-5653A>G, NR_104403.1:n.409-5653A>G +PA166157152 rs9376230 PA30601 MAP3K5 NC_000006.12:136781227 1 1 0 0 0 XM_005266991.1:c.448+10483G>T, NG_011965.1:g.16292G>A, NG_011965.1:g.16292G>C, NM_005923.3:c.448+10483G>T, NC_000006.11:g.137102365C>G, rs60883634, XM_011535839.1:c.448+10483G>T, NC_000006.11:g.137102365C>A, NC_000006.12:g.136781227C>G, NC_000006.12:g.136781227=, XM_011535837.1:c.448+10483G>T, NG_011965.1:g.16292G>T, NC_000006.12:g.136781227C>A, NC_000006.11:g.137102365C>T, NG_011965.1:g.16292=, NC_000006.12:g.136781227C>T, 60883634, XM_011535838.1:c.448+10483G>T, 9376230, NC_000006.11:g.137102365=, XM_005266992.1:c.448+10483G>T, rs9376230, XM_005266990.1:c.448+10483G>T +PA166165315 rs9376256 NC_000006.12:137112153 1 0 0 0 0 9376256, NC_000006.12:g.137112153C>T, rs9376256, NC_000006.11:g.137433290=, NC_000006.11:g.137433290C>T, 61539139, 56618638, NC_000006.12:g.137112153= +PA166157153 rs9380142 PA35083 HLA-G NC_000006.12:29831017 1 1 0 0 0 XM_005275247.1:c.*278G=, NT_167245.1:g.1099415G=, XM_011548236.1:c.*292A=, XR_241896.1:n.1904A>G, XR_246963.1:n.1838G>A, XR_247389.1:n.1904A>G, NC_000006.11:g.29798794A=, NC_000006.11:g.29798794A>G, XM_005275248.1:c.*493G>A, XM_005275551.1:c.*507A>G, NT_167246.2:g.1093503A>G, XM_005274966.1:c.*493G>A, XM_005275119.1:c.*278A>G, rs117803891, XM_005274967.1:c.*278G=, XM_005275120.1:c.*278A>G, rs9380142, XM_005249055.1:c.*278A=, 114317070, XM_005274967.1:c.*278G>A, XR_247353.1:n.1904A>G, XR_247402.1:n.1838G>A, XM_005275119.1:c.*278A=, XM_005275394.1:c.*292A=, XM_005275122.1:c.*278A>G, XM_011547882.1:c.*278A>G, XM_005249057.1:c.*493G>A, XM_011547651.1:c.*278G=, XM_005274964.1:c.*278G>A, NT_167248.2:g.1093797A=, XM_005274965.1:c.*278G>A, NT_167247.1:g.1099073G=, XM_005275246.1:c.*278G=, XM_005275247.1:c.*278G>A, NG_029039.1:g.9039A>G, XM_005275246.1:c.*278G>A, NT_167247.2:g.1093488G>A, XM_005275121.1:c.*493A>G, rs114317070, XR_247423.1:n.1896G>A, rs60341608, XM_005275552.1:c.*292A>G, NT_167244.2:g.1096643A>G, XM_005275549.1:c.*292A=, NT_167248.2:g.1093797A>G, XM_005272810.1:c.*292A>G, XM_005249056.1:c.*278G>A, NT_167246.1:g.1099123A=, NG_029039.1:g.9039=, XM_005275249.1:c.*278G>A, NG_029039.1:g.9039A=, XM_011548237.1:c.*292A=, NC_000006.12:g.29831017A=, NT_167249.2:g.1137062A>G, XM_005274964.1:c.*278G=, NT_113891.3:g.1314593A>G, XM_011547651.1:c.*278G>A, XM_005275249.1:c.*278G=, NT_113891.3:g.1314593A=, NC_000006.12:g.29831017A>G, XM_005275550.1:c.*292A>G, NM_002127.5:c.*278A>G, XM_005274965.1:c.*278G=, XR_241896.1:n.1904G>A, XR_246963.1:n.1838A>G, XM_011548430.1:c.*292A=, XR_247389.1:n.1904G>A, XM_005275549.1:c.*292A>G, NT_167246.1:g.1099123A>G, XM_005275248.1:c.*493A>G, XM_005275551.1:c.*507G>A, XM_011548430.1:c.*292A>G, XM_005274966.1:c.*493A>G, XM_011548048.1:c.*278G=, NT_167244.2:g.1096643A=, XM_005275120.1:c.*278G>A, XM_011548431.1:c.*292A>G, XM_005275394.1:c.*292A>G, 17185503, XR_247370.1:n.1904A>G, 60341608, XR_247353.1:n.1904G>A, XR_247402.1:n.1838A>G, XM_005275122.1:c.*278G>A, NT_167245.2:g.1093830G=, NM_002127.5:c.*278A=, XM_005249057.1:c.*493A>G, NT_167246.2:g.1093503A=, NC_000006.11:g.29798794=, XR_247370.1:n.1904A=, NT_167249.2:g.1137062A=, XM_005275121.1:c.*493G>A, XM_011547882.1:c.*278A=, XR_247423.1:n.1896A>G, NT_167245.1:g.1099415G>A, XM_011548431.1:c.*292A=, NT_167245.2:g.1093830G>A, XM_005249058.1:c.*278A=, XM_005272810.1:c.*292A=, XM_005275552.1:c.*292A=, XM_005249055.1:c.*278A>G, XM_005249058.1:c.*278A>G, 9380142, XM_005249056.1:c.*278A>G, XM_011548048.1:c.*278G>A, XM_011548236.1:c.*292A>G, NT_167247.1:g.1099073G>A, NC_000006.12:g.29831017=, XM_011548237.1:c.*292A>G, 117803891, XM_005275550.1:c.*292G>A, NT_167247.2:g.1093488G=, rs17185503 +PA166157154 rs9380524 PA28162 FKBP5 NC_000006.12:35621293 1 1 0 0 0 NC_000006.11:g.35589070=, NC_000006.12:g.35621293C>A, NC_000006.12:g.35621293=, NM_001145777.1:c.251-1019G>T, NG_012645.2:g.112291G>A, NM_004117.3:c.251-1019G>T, NM_001145776.1:c.251-1019G>T, rs9380524, 9380524, NC_000006.11:g.35589070C>A, NC_000006.12:g.35621293C>T, NC_000006.11:g.35589070C>T, NG_012645.2:g.112291=, NG_012645.2:g.112291G>T, NM_001145775.2:c.251-1019G>T +PA166179290 rs9381299 NC_000006.12:44244130 1 1 0 0 0 NC_000006.12:g.44244130=, NC_000006.11:g.44211867T>C, NC_000006.11:g.44211867=, NC_000006.12:g.44244130T>C, rs9381299, 9381299, 58155045 +PA166184667 rs9384169 NC_000006.12:153992036 1 1 0 0 0 NC_000006.12:g.153992036=, NC_000006.12:g.153992036T>C, NC_000006.12:g.153992036T>A, rs9384169, NC_000006.11:g.154313171T>C, 9384169, NC_000006.11:g.154313171T>A, 61065912, NC_000006.11:g.154313171= +PA166184584 rs9384174 PA31945 OPRM1 NC_000006.12:154085967 1 0 0 0 0 NG_021208.2:g.80467=, NC_000006.12:g.154085967C>G, NC_000006.12:g.154085967=, NC_000006.11:g.154407102=, NC_000006.11:g.154407102C>T, NC_000006.12:g.154085967C>T, NG_021208.2:g.80467C>T, NG_021208.2:g.80467C>G, rs9384174, 9384174, NC_000006.11:g.154407102C>G +PA166157155 rs9384179 PA31945 OPRM1 NC_000006.12:154099922 1 0 0 0 0 NC_000006.12:g.154099922G>A, NM_001145279.3:c.1443+8450G>A, rs9384179, NM_001145280.3:c.864+8450G>A, NM_001145282.2:c.1164+8450G>A, NM_001145287.2:c.864+8450G>A, NM_001145281.2:c.921+8450G>A, NC_000006.12:g.154099922=, NG_021208.2:g.94422G>A, 9384179, XM_011535849.1:c.1443+8450G>A, XR_245537.1:n.997+8450G>A, XM_011535860.1:c.864+8450G>A, NC_000006.11:g.154421057G>A, NM_001008503.2:c.1164+8450G>A, NG_021208.2:g.94422=, NG_021208.1:g.94422G>A, NM_001285524.1:c.1443+8450G>A, NM_001145285.2:c.1165-7694G>A, NR_104351.1:n.1407+5604G>A, NM_001145283.2:c.1165-8094G>A, NG_021208.2:g.94422G>T, XM_011535861.1:c.864+8450G>A, NR_104348.1:n.1407+5604G>A, XR_245536.1:n.1459+5604G>A, XR_245534.1:n.1459+5604G>A, XM_011535859.1:c.864+8450G>A, NC_000006.11:g.154421057=, NM_000914.4:c.1164+8450G>A, NM_001285526.1:c.864+8450G>A, NC_000006.12:g.154099922G>T, NR_104349.1:n.1407+5604G>A, NM_001145284.3:c.1165-7826G>A, XM_005267003.1:c.864+8450G>A, NM_001285522.1:c.291-18761G>A, NC_000006.11:g.154421057G>T, NM_001145286.2:c.1165-7543G>A, XR_245535.1:n.1459+5604G>A, NR_104350.1:n.945+8450G>A +PA166195565 rs9384825 PA162401195 RFPL4B NC_000006.12:112346991 1 1 0 0 0 57572960, 9384825, NC_000006.12:g.112346991C>T, NC_000006.11:g.112668193=, NC_000006.12:g.112346991=, rs9384825, NC_000006.11:g.112668193C>T +PA166178396 rs9389568 NC_000006.12:138145853 1 1 0 0 0 NC_000006.11:g.138466990T>C, rs9389568, NC_000006.11:g.138466990=, 9389568, NC_000006.12:g.138145853=, NC_000006.12:g.138145853T>C +PA166179928 rs939334 PA134866755 HTR3D NC_000003.12:184031943 1 0 0 0 0 NG_012750.1:g.5400=, 56481166, NC_000003.12:g.184031943T>C, NC_000003.12:g.184031943=, rs939334, NC_000003.11:g.183749731T>C, 939334, NC_000003.11:g.183749731=, 57255111, NG_012750.1:g.5400T>C +PA166156300 rs939338 PA395 ABCC5 NC_000003.12:183986280 2 0 0 0 0 rs56440939, NC_000003.11:g.183704068G>T, XM_005247061.1:c.591+1490C>T, rs17218204, NM_005688.3:c.591+1490C>T, 17218204, 56440939, NC_000003.12:g.183986280=, NM_001023587.2:c.592-902C>T, NC_000003.11:g.183704068G>C, NC_000003.11:g.183704068G>A, XM_005247059.3:c.591+1490C>T, NC_000003.11:g.183704068=, rs3749439, NC_000003.12:g.183986280G>C, NC_000003.12:g.183986280G>A, XM_005247060.1:c.591+1490C>T, NM_001320032.1:c.-941+1490C>T, XM_005247058.3:c.591+1490C>T, XM_005247059.1:c.591+1490C>T, NG_047115.1:g.36731C>A, XM_011512315.1:c.591+1490C>T, rs59349069, NC_000003.12:g.183986280G>T, NG_047115.1:g.36731C>G, 939338, XM_005247062.1:c.-941+1490C>T, XM_011512316.1:c.-941+1490C>T, rs939338, XM_011512314.1:c.591+1490C>T, NG_047115.1:g.36731=, NR_135125.1:n.778-825C>T, XM_005247058.1:c.591+1490C>T, 3749439, NG_047115.1:g.36731C>T, 59349069 +PA166155170 rs939347 PA31748 NR1D1 NC_000017.11:40100440 2 0 0 0 0 57211090, NG_033084.1:g.5286C>G, NC_000017.11:g.40100440G>C, NC_000017.11:g.40100440G>A, NM_021724.4:c.-346C>T, NC_000017.10:g.38256693G>A, NC_000017.10:g.38256693G>C, rs939347, 939347, NG_033084.1:g.5286=, rs57211090, NC_000017.11:g.40100440=, NG_033084.1:g.5286C>T, NC_000017.10:g.38256693= +PA166206603 rs9393888 PA37535 ZNF165 NC_000006.12:28091439 1 1 0 0 0 9393888, NC_000006.11:g.28059217G>T, NC_000006.12:g.28091439G>T, rs9393888, NC_000006.12:g.28091439G>C, 17710981, NC_000006.11:g.28059217=, 58655947, NC_000006.11:g.28059217G>C, NC_000006.12:g.28091439= +PA166157156 rs9394952 PA24392 ABCC10 NC_000006.12:43433367 1 0 0 0 0 XM_011514983.1:c.48+7G>A, XM_011514977.1:c.1380+7G>A, NC_000006.12:g.43433367G>A, rs9394952, 9394952, NC_000006.12:g.43433367G>C, XM_011514982.1:c.48+7G>A, XR_926334.1:n.1525+7G>A, NM_033450.2:c.1251+7G>A, XM_005249465.1:c.1380+7G>A, XM_011514979.1:c.1380+7G>A, XM_011514975.1:c.1380+7G>A, NC_000006.12:g.43433367=, XM_005249466.1:c.1380+7G>A, XM_011514981.1:c.1380+7G>A, XM_005249468.1:c.1380+7G>A, NR_106894.1:n.-1175G>A, XM_011514978.1:c.1263+7G>A, NC_000006.11:g.43401105G>A, XM_011514984.1:c.1380+7G>A, NC_000006.11:g.43401105G>C, XM_005249470.1:c.1380+7G>A, XM_005249467.1:c.1380+7G>A, XR_926335.1:n.1532+7G>A, rs58972751, NC_000006.11:g.43401105=, XM_011514976.1:c.1380+7G>A, 58972751, XM_011514974.1:c.1380+7G>A, NM_001198934.1:c.1380+7G>A, XM_011514980.1:c.1380+7G>A +PA166157157 rs9394992 PA154 SLC29A1 NC_000006.12:44228255 3 2 0 0 0 NM_004955.2:c.29+913C>T, XM_005248875.1:c.266+913C>T, NG_042893.1:g.13751=, rs57559510, XM_005248880.3:c.29+913C>T, XM_005248876.3:c.158+913C>T, XM_005248877.1:c.155+913C>T, XM_005248879.1:c.29+913C>T, XM_011514341.1:c.269+913C>T, NM_001078177.1:c.29+913C>T, XM_005248881.3:c.29+913C>T, XM_005248876.1:c.158+913C>T, XM_005248879.3:c.29+913C>T, NC_000006.12:g.44228255C>T, NC_000006.11:g.44195992=, NM_001078175.2:c.29+913C>T, XM_005248881.1:c.29+913C>T, NM_001078174.1:c.29+913C>T, NM_001304463.1:c.155+913C>T, NM_001304462.1:c.266+913C>T, NM_001304466.1:c.104+913C>T, XM_005248878.1:c.29+913C>T, NG_042893.1:g.13751C>T, NC_000006.12:g.44228255=, XM_005248882.1:c.29+913C>T, XM_005248882.3:c.29+913C>T, 57559510, NC_000006.11:g.44195992C>T, NM_001304465.1:c.107+913C>T, XM_005248880.1:c.29+913C>T, NM_001078176.2:c.29+913C>T, rs9394992, 9394992, XM_005248878.3:c.29+913C>T +PA166157158 rs9395206 PA134970102 SLC25A27 NC_000006.12:46670685 1 0 0 0 0 XR_241952.1:n.952+1892T>A, NM_004277.4:c.798-441T>A, NC_000006.11:g.46638422=, NM_001204051.1:c.798-441T>A, 9395206, rs9395206, XM_005249484.1:c.654-441T>A, XR_242029.1:n.252-100A>T, 59354211, NR_134642.1:n.235-100A>T, XR_242030.1:n.82-100A>T, XR_427858.1:n.1046-441T>A, NM_001204052.1:c.704+1892T>A, XM_005249485.1:c.483-441T>A, rs17216750, NC_000006.11:g.46638422T>A, NR_134644.1:n.160-100A>T, NC_000006.12:g.46670685T>G, NC_000006.11:g.46638422T>C, NR_134643.1:n.233-100A>T, 17216750, NC_000006.12:g.46670685T>C, NC_000006.11:g.46638422T>G, XR_242029.2:n.235-100A>T, NC_000006.12:g.46670685T>A, NC_000006.12:g.46670685=, XM_005249483.2:c.798-441T>A, rs59354211, XM_005249483.1:c.798-441T>A +PA166180172 rs9397685 PA31945 OPRM1 NC_000006.12:154112099 2 1 0 0 0 NG_021208.2:g.106599A>G, 60741598, NC_000006.12:g.154112099A>G, NC_000006.11:g.154433234=, NC_000006.12:g.154112099=, NC_000006.12:g.154112099A>T, NC_000006.11:g.154433234A>T, NG_021208.2:g.106599=, 9397685, rs9397685, NC_000006.11:g.154433234A>G, NG_021208.2:g.106599A>T +PA166184598 rs9397687 PA31945 OPRM1 NC_000006.12:154140951 1 0 0 0 0 NC_000006.12:g.154140951C>T, NC_000006.11:g.154462086C>T, NC_000006.11:g.154462086=, 9397687, NC_000006.12:g.154140951=, rs9397687, NG_021208.2:g.135451=, NG_021208.2:g.135451C>T +PA166155609 rs940052 PA33765 PRKCE NC_000002.12:45754003 1 0 0 0 0 XM_011532972.1:c.60+55994A>G, NM_005400.2:c.349-88997A>G, XM_011532975.1:c.60+55994A>G, rs60366512, XM_011532979.1:c.3+21149A>G, NC_000002.11:g.45981142=, XM_005264431.1:c.349-88997A>G, 940052, XM_005264428.1:c.349-88997A>G, rs940052, XM_011532974.1:c.60+55994A>G, XR_939695.1:n.1135-88997A>G, XM_005264431.2:c.349-88997A>G, XM_005264429.1:c.349-88997A>G, NC_000002.11:g.45981142A>G, XM_011532971.1:c.60+55994A>G, XM_005264430.1:c.-103+76087A>G, NC_000002.12:g.45754003=, XM_011532977.1:c.6+52512A>G, NC_000002.12:g.45754003A>G, XM_011532973.1:c.60+55994A>G, XM_011532978.1:c.6+52512A>G, 60366512, XM_011532976.1:c.60+55994A>G, XM_011532970.1:c.60+55994A>G +PA166178424 rs9402944 NC_000006.12:138132382 1 1 0 0 0 rs9402944, NC_000006.12:g.138132382=, NC_000006.12:g.138132382G>T, NC_000006.11:g.138453519=, 9402944, 12173952, NC_000006.11:g.138453519G>T +PA166195112 rs9405612 PA25402 BPHL NC_000006.12:3143879 1 0 0 0 0 NC_000006.11:g.3144113C>T, rs9405612, 9405612, NC_000006.12:g.3143879=, NC_000006.11:g.3144113=, 58711444, NC_000006.12:g.3143879C>T +PA166157799 rs9409929 NC_000009.12:134448667 1 0 0 0 0 NC_000009.11:g.137340513G>A, 9409929, NC_000009.12:g.134448667G>A, NC_000009.11:g.137340513=, rs9409929, NC_000009.12:g.134448667= +PA166232208 rs942142 PA28983 GRIN3A NC_000009.12:101670591 1 0 0 0 0 942142, NC_000009.11:g.104432873T>C, rs942142, 61364320, NP_597702.2:p.Ala607=, 17777405, NC_000009.12:g.101670591T>C, NC_000009.11:g.104432873T>G, NC_000009.11:g.104432873=, NC_000009.12:g.101670591=, NC_000009.12:g.101670591T>G +PA166153798 rs9424490 NC_000001.11:232886124 1 0 0 0 0 NC_000001.11:g.232886124=, XR_949279.1:n.371-9548C>G, rs57215575, XR_949278.1:n.747-9548C>G, NC_000001.10:g.233021870C>G, XR_949280.1:n.371-9548C>G, 57215575, NC_000001.11:g.232886124C>G, XR_949281.1:n.371-9548C>G, rs9424490, NC_000001.10:g.233021870=, 9424490, XR_247101.3:n.371-9548C>G +PA166153602 rs943580 PA42 AGT NC_000001.11:230701298 1 1 0 0 0 NC_000001.11:g.230701298=, NC_000001.11:g.230701298G>A, NG_008836.1:g.18293C>T, rs17785428, NC_000001.11:g.230701298G>C, NC_000001.10:g.230837044G>C, NC_000001.10:g.230837044=, NG_008836.2:g.18293C>T, NC_000001.10:g.230837044G>A, NG_008836.1:g.18293=, 943580, 61363946, NG_008836.1:g.18293C>G, 17785428, NG_008836.2:g.18293C>G, rs61363946, 9432201, NG_008836.2:g.18293=, rs943580, rs9432201 +PA166154769 rs944050 PA27886 ESR2 NC_000014.9:64233327 1 1 0 0 0 NC_000014.8:g.64700045T>C, NC_000014.8:g.64700045=, NR_073496.1:n.2010+1643A>G, NR_073497.1:n.1375-4A>G, NM_001040275.1:c.1406+1643A>G, NM_001291712.1:c.1406+1643A>G, NR_073505.1:n.2149+1643A>G, 58894804, 944050, NM_001271877.1:c.1134-4A>G, XM_011536545.1:c.1406+1643A>G, NG_011535.1:g.110224=, NM_001271876.1:c.1406+1643A>G, XM_011536546.1:c.1407-4A>G, rs58894804, NM_001214902.1:c.1406+1643A>G, rs944050, NM_001291723.1:c.1406+1643A>G, NM_001437.2:c.1407-4A>G, NG_011535.1:g.110224A>G, NC_000014.9:g.64233327=, NC_000014.9:g.64233327T>C +PA166257161 rs944174134 PA145 DPYD NC_000001.11:97721734 1 0 0 0 0 NG_008807.2:g.204326=, NC_000001.10:g.98187290=, DPYD c.322-63G > A, NC_000001.11:g.97721734=, NC_000001.10:g.98187290C>T, 944174134, NC_000001.11:g.97721734C>T, NG_008807.2:g.204326G>A, rs944174134 +PA166154770 rs944459 PA27886 ESR2 NC_000014.9:64232640 1 0 0 0 0 NM_001271877.1:c.*497G>A, XM_011536546.1:c.*497G>A, XM_011536545.1:c.1406+2330G>A, rs17225913, NC_000014.8:g.64699358=, 944459, NM_001214902.1:c.1406+2330G>A, NM_001437.2:c.*497G>A, NM_001271876.1:c.1406+2330G>A, rs60195561, NC_000014.9:g.64232640=, rs944459, 17225913, NR_073505.1:n.2149+2330G>A, NC_000014.8:g.64699358C>T, NR_073496.1:n.2010+2330G>A, NM_001291723.1:c.1406+2330G>A, NR_073497.1:n.2058G>A, NC_000014.9:g.64232640C>T, NM_001291712.1:c.1406+2330G>A, 60195561, NM_001040275.1:c.1406+2330G>A, NG_011535.1:g.110911=, NG_011535.1:g.110911G>A +PA166157159 rs9450278 PA31804 NT5E NC_000006.12:85448624 1 0 0 0 0 NG_028214.1:g.4041G>A, NC_000006.12:g.85448624=, NM_002526.3:c.-1516G>A, NC_000006.11:g.86158342=, NC_000006.11:g.86158342G>A, NG_028214.1:g.4041=, NC_000006.12:g.85448624G>A, rs9450278, 9450278, NM_001204813.1:c.-1516G>A +PA166309222 rs945665113 PA26996 CTBP2 NC_000010.11:124998090 1 0 0 0 0 NC_000010.10:g.126686659G>A, 945665113, rs945665113, NC_000010.11:g.124998090=, NP_001320.1:p.Arg147Trp, NC_000010.11:g.124998090G>A, NP_001320.1:p.Arg147=, NC_000010.10:g.126686659= +PA166157160 rs9461684 PA35057 HLA-C NC_000006.12:31285667 1 1 0 0 0 60686741, NC_000006.11:g.31253444=, NT_167249.1:g.2587161C>T, NT_167245.1:g.2548992C>T, NT_167246.1:g.2600285C>T, NT_167247.1:g.2633936C>T, rs60686741, NT_113891.3:g.2766578C>T, NC_000006.12:g.31285667C>T, NT_167245.2:g.2543407C>T, NT_167248.1:g.2546933C>T, NT_167248.2:g.2541337C>T, NT_167246.2:g.2594665C>T, NC_000006.12:g.31285667=, rs114017423, 9461684, rs9461684, rs117266124, NT_167247.2:g.2628351C>T, 117266124, 114017423, NT_113891.2:g.2766684C>T, NC_000006.11:g.31253444C>T, NT_167249.2:g.2587863C>T +PA166157161 rs9462535 PA134920075 KIF6 NC_000006.12:39348016 3 0 0 0 0 NM_001289021.1:c.2013-1490G>T, NM_145027.4:c.2181-1490G>T, XM_011514358.1:c.2181-1490G>T, NG_054928.1:g.382409G>T, NM_001289020.1:c.2130-1490G>T, XM_005248904.3:c.2181-1490G>T, rs9462535, XM_011514357.1:c.2181-2227G>T, XM_011514360.1:c.1554-1490G>T, NM_001289024.1:c.534-1490G>T, 58517045, NC_000006.11:g.39315792C>A, NC_000006.12:g.39348016C>T, NG_054928.1:g.382409=, NC_000006.12:g.39348016=, NC_000006.11:g.39315792C>G, XM_005248905.1:c.2130-1490G>T, NC_000006.11:g.39315792=, 9462535, XM_005248904.1:c.2181-1490G>T, XM_005248906.1:c.2013-1490G>T, rs58517045, NC_000006.12:g.39348016C>G, NC_000006.11:g.39315792C>T, NG_054928.1:g.382409G>A, NG_054928.1:g.382409G>C, NC_000006.12:g.39348016C>A, XM_011514359.1:c.2181-2227G>T +PA166160223 rs9468 PA238 MAPT NC_000017.11:46024197 1 0 0 0 0 9468, rs9468, NC_000017.11:g.46024197T>C, NC_000017.10:g.44101563=, 17573935, NG_007398.2:g.134735=, 118104841, NC_000017.10:g.44101563T>C, 3192999, NG_007398.1:g.134785T>C, NC_000017.11:g.46024197=, NG_007398.1:g.134785=, NG_007398.2:g.134735T>C +PA166157162 rs9469003 PA142672032 CYCSP5 NC_000006.12:31440051 2 1 0 0 0 rs117062242, NC_000006.11:g.31407828=, rs9469003, XR_247382.1:n.-1616T>C, 9469003, XR_247437.1:n.-1616T>C, 61671210, NC_000006.12:g.31440051T>C, NC_000006.11:g.31407828T>C, XR_242000.1:n.-1616T>C, NC_000006.12:g.31440051=, NT_167246.2:g.2748090T>C, NT_113891.3:g.2920356T>C, 116070689, XR_926694.1:n.56A>G, XR_246977.1:n.-1616T>C, 117062242, rs61671210, rs116070689, XR_952244.1:n.703A>G, XR_953112.1:n.56A>G, NT_167249.2:g.2742270T>C +PA166157163 rs9471077 PA134920075 KIF6 NC_000006.12:39340966 3 0 0 0 0 NG_054928.1:g.389459=, XM_005248905.1:c.2377+2743T>C, 9471077, rs9471077, rs59843364, NM_001289021.1:c.2260+2743T>C, NM_001289020.1:c.2377+2743T>C, XM_005248906.1:c.2260+2743T>C, NC_000006.11:g.39308742=, NM_145027.4:c.2428+2743T>C, NC_000006.11:g.39308742A>G, NM_001289024.1:c.781+2743T>C, XR_926774.1:n.239-1673A>G, XM_011514359.1:c.2377+2743T>C, NC_000006.12:g.39340966=, 59843364, NG_054928.1:g.389459T>C, NC_000006.12:g.39340966A>G +PA166154689 rs947267 PA134924986,PA165505093 DAOA,DAOA-AS1 NC_000013.11:105487313 1 0 0 0 0 NM_001161812.1:c.89-2479T>G, 57823479, NG_012694.1:g.26447=, NG_012694.1:g.26447T>G, 17658033, NM_172370.4:c.282-2588T>G, NC_000013.11:g.105487313T>G, 947267, NC_000013.10:g.106139662T>G, XM_005254042.1:c.376-2588T>G, rs57823479, NC_000013.11:g.105487313=, NC_000013.10:g.106139662=, NR_040247.1:n.505+2463A>C, rs17658033, rs947267, NM_001161814.1:c.69-2588T>G +PA166184665 rs9478495 NC_000006.12:154002774 1 1 0 0 0 NC_000006.12:g.154002774G>A, rs9478495, NC_000006.12:g.154002774=, 9478495, 59960661, NC_000006.11:g.154323909G>A, NC_000006.11:g.154323909= +PA166157164 rs9479757 PA31945 OPRM1 NC_000006.12:154090209 9 3 0 0 0 XR_245537.1:n.477-743G>A, NM_001145279.3:c.922+31G>A, NM_001008505.2:c.643+31G>A, XR_245535.1:n.829+31G>A, NG_021208.2:g.84709G>A, NR_104348.1:n.777+31G>A, NM_001145284.3:c.643+31G>A, XM_011535859.1:c.343+31G>A, NR_104351.1:n.777+31G>A, XM_011535854.1:c.343+31G>A, 17174808, NM_001145287.2:c.343+31G>A, rs9479757, 9479757, NC_000006.11:g.154411344=, NM_001285528.1:c.343+31G>A, XR_245536.1:n.829+31G>A, rs17174808, NM_001145285.2:c.643+31G>A, XM_011535858.1:c.343+31G>A, NM_001285522.1:c.291-28474G>A, NM_001145280.3:c.343+31G>A, 60522300, XM_005267002.1:c.829+31G>A, NC_000006.12:g.154090209=, NM_001285524.1:c.922+31G>A, XM_011535853.1:c.343+31G>A, NM_001145286.2:c.643+31G>A, NM_001285527.1:c.343+31G>A, NM_001145281.2:c.400+31G>A, NC_000006.11:g.154411344G>A, NM_001008503.2:c.643+31G>A, XM_011535857.1:c.343+31G>A, NG_021208.1:g.84709G>A, NR_104350.1:n.425-743G>A, XM_011535850.1:c.436+31G>A, NM_001145282.2:c.643+31G>A, XM_011535852.1:c.343+31G>A, XM_011535860.1:c.343+31G>A, XM_005267003.1:c.343+31G>A, NM_001285523.1:c.643+31G>A, XM_011535856.1:c.343+31G>A, NM_001008504.3:c.643+31G>A, XM_011535851.1:c.343+31G>A, NC_000006.12:g.154090209G>A, XM_011535849.1:c.922+31G>A, XM_011535862.1:c.343+31G>A, XR_245534.1:n.829+31G>A, NR_104349.1:n.777+31G>A, NG_021208.2:g.84709=, NM_001145283.2:c.643+31G>A, XM_011535861.1:c.343+31G>A, XM_011535855.1:c.343+31G>A, NM_000914.4:c.643+31G>A, rs60522300, NM_001285526.1:c.343+31G>A +PA166184670 rs9479779 PA164721033,PA31945 IPCEF1,OPRM1 NC_000006.12:154181554 1 0 0 0 0 58451479, NC_000006.11:g.154502688=, NC_000006.11:g.154502688A>G, NC_000006.12:g.154181554=, NC_000006.12:g.154181554A>G, NG_021208.2:g.176054A>G, rs9479779, NG_021208.2:g.176054=, 9479779 +PA166157165 rs9483947 PA30601 MAP3K5 NC_000006.12:136784262 1 1 0 0 0 XM_005266992.1:c.448+7448G>A, 57120049, NR_134635.1:n.216C>T, NC_000006.12:g.136784262=, NC_000006.11:g.137105400C>T, XM_011535837.1:c.448+7448G>A, rs9483947, XR_245608.1:n.147C>T, 9483947, XM_011535839.1:c.448+7448G>A, rs56485501, NC_000006.12:g.136784262C>T, 386504216, rs57385769, NC_000006.11:g.137105400=, XM_005266990.1:c.448+7448G>A, 56485501, XM_011535838.1:c.448+7448G>A, NG_011965.1:g.13257G>A, 57385769, XM_005266991.1:c.448+7448G>A, NM_005923.3:c.448+7448G>A, rs57120049, rs386504216, NG_011965.1:g.13257= +PA166154302 rs948854 PA28529 GAL NC_000011.10:68682735 3 2 0 0 0 NC_000011.10:g.68682735C>T, 948854, NG_052785.1:g.3261=, NC_000011.9:g.68450203C>T, NG_052785.1:g.3261C>A, NC_000011.10:g.68682735C>A, NC_000011.9:g.68450203=, rs59623113, NM_015973.4:c.-1998C>T, NC_000011.9:g.68450203C>A, NC_000011.10:g.68682735C>G, rs948854, NG_052785.1:g.3261C>G, NG_052785.1:g.3261C>T, NC_000011.9:g.68450203C>G, NC_000011.10:g.68682735=, 59623113 +PA166203421 rs9494885 NC_000006.12:137851611 1 0 0 0 0 NC_000006.12:g.137851611T>C, rs9494885, 9494885, NC_000006.12:g.137851611=, 58928220, NC_000006.11:g.138172748=, NC_000006.11:g.138172748T>C +PA166165169 rs9495425 PA134878600 TXLNB NC_000006.12:139309628 1 0 0 0 0 NC_000006.11:g.139630765=, NC_000006.11:g.139630765T>C, rs9495425, NC_000006.12:g.139309628=, 9495425, NC_000006.12:g.139309628T>C +PA166182980 rs949717872 PA128 CYP2D6 NC_000022.11:42127938 4 2 2 0 0 NC_000022.10:g.42523940=, NG_008376.4:g.7873A>C, NP_000097.3:p.Ile297Leu, NG_008376.3:g.7054A>C, 949717872, NP_000097.3:p.Ile297=, NC_000022.11:g.42127938T>G, NC_000022.11:g.42127938=, NC_000022.10:g.42523940T>G, NG_008376.4:g.7873=, rs949717872, NG_008376.3:g.7054= +PA166157166 rs9501929 PA142670670 TUBB2A NC_000006.12:3157620 1 0 0 0 0 NC_000006.12:g.3157620T>C, rs9501929, XM_005249359.1:c.-544A>G, XR_926395.1:n.-56T>C, NC_000006.12:g.3157620=, NM_001310315.1:c.-544A>G, NM_001069.2:c.-157A>G, NC_000006.11:g.3157854T>C, 9501929, NG_042223.1:g.4930A>G, NC_000006.11:g.3157854=, NG_042223.1:g.4930= +PA166178382 rs950569 NC_000001.11:189871947 1 0 0 0 0 950569, 58062880, NC_000001.11:g.189871947=, NC_000001.10:g.189841077=, NC_000001.11:g.189871947G>T, rs950569, NC_000001.10:g.189841077G>T +PA166185490 rs950776 PA26496 CHRNB4 NC_000015.10:78633676 2 0 0 0 0 NC_000015.10:g.78633676=, 61553824, NC_000015.10:g.78633676T>C, 950776, NC_000015.9:g.78926018=, NC_000015.9:g.78926018T>C, rs950776, 17408858 +PA166154733 rs9514091 PA318 SLC10A2 NC_000013.11:103061904 2 1 0 0 0 NC_000013.11:g.103061904G>A, NG_016648.1:g.9943=, rs9514091, 9514091, rs57163569, NC_000013.11:g.103061904=, NC_000013.10:g.103714254=, NG_016648.1:g.9943C>T, NM_000452.2:c.378-3522C>T, NC_000013.10:g.103714254G>A, 57163569 +PA166153603 rs951436 PA34375 RGS4 NC_000001.11:163063552 1 0 0 0 0 36214195, 951436, NC_000001.11:g.163063552=, NC_000001.11:g.163063552A>C, rs36214195, 61316963, rs951436, rs61316963, NC_000001.10:g.163033342=, NC_000001.10:g.163033342A>C +PA166153604 rs951439 PA34375 RGS4 NC_000001.11:163063901 4 2 0 0 0 NC_000001.10:g.163033691C>T, rs386623110, NC_000001.10:g.163033691=, 951439, NC_000001.11:g.163063901C>G, rs57153444, NC_000001.11:g.163063901=, 57153444, NC_000001.10:g.163033691C>G, rs52799590, 36214199, NG_023312.1:g.296C>G, NG_023312.1:g.296=, 386623110, NG_023312.1:g.296C>T, rs36214199, 52799590, rs951439, NC_000001.11:g.163063901C>T +PA166164880 rs9514827 PA434 TNFSF13B NC_000013.11:108267055 2 0 0 0 0 9514827, rs9514827, NG_029524.1:g.2427T>C, 17498757, NC_000013.11:g.108267055=, NG_029524.1:g.2427T>G, NC_000013.10:g.108919403=, 58894926, NC_000013.10:g.108919403T>C, NG_029524.1:g.2427=, NC_000013.10:g.108919403T>G, NC_000013.11:g.108267055T>C, NC_000013.11:g.108267055T>G +PA166154734 rs9516519 PA397 ABCC4 NC_000013.11:95020203 4 1 0 0 0 NG_050651.1:g.286244A>C, NM_005845.4:c.*1372A>C, NC_000013.11:g.95020203=, XM_011521047.1:c.*1372A>C, 9516519, NG_050651.1:g.286244=, NC_000013.11:g.95020203T>G, NG_050651.1:g.286244A>G, rs17189278, NC_000013.11:g.95020203T>C, XM_006719914.1:c.*1372A>C, XM_005254025.2:c.*1372A>C, XM_005254027.1:c.*1372A>C, 17189278, rs9516519, NM_001301829.1:c.*1372A>C, XM_005254025.1:c.*1372A>C, NC_000013.10:g.95672457T>C, NC_000013.10:g.95672457=, XM_005254026.1:c.*1372A>C, NC_000013.10:g.95672457T>G +PA166253121 rs9523 PA38795,PA31854 IL4I1,NUP62 NC_000019.10:49907875 1 0 0 0 0 3170550, 74255088, 9523, NC_000019.9:g.50411132T>C, rs9523, NG_021170.1:g.26631A>G, NG_023448.1:g.26857A>G, NC_000019.9:g.50411132=, NG_023448.1:g.26857=, NC_000019.10:g.49907875T>C, NC_000019.10:g.49907875=, 386623164, NG_021170.1:g.26631=, 16981532 +PA166154735 rs9533166 PA36619 TNFSF11 NC_000013.11:42603033 1 0 0 0 0 61447705, NC_000013.10:g.43177169T>C, NM_033012.3:c.313+2052T>C, NG_008990.1:g.45298=, NC_000013.11:g.42603033=, XM_011535280.1:c.313+2052T>C, rs9533166, NG_008990.1:g.45298T>C, 9533166, NC_000013.11:g.42603033T>C, NM_003701.3:c.532+2052T>C, rs61447705, NC_000013.10:g.43177169= +PA166154736 rs9535826 PA73 ATP7B NC_000013.11:51991990 1 1 0 0 0 NC_000013.10:g.52566126T>C, XM_005266427.2:c.52-16822A>C, XM_005266428.1:c.52-16822A>C, XM_005266430.1:c.52-16822A>C, NC_000013.11:g.51991990T>G, XR_941604.1:n.271-16822A>C, NM_001005918.2:c.52-16822A>C, XM_005266432.1:c.52-16822A>C, XM_005266426.1:c.52-16822A>C, 61446037, XM_005266429.1:c.52-16822A>C, XR_941603.1:n.271-16822A>C, XM_011535119.1:c.52-16822A>C, rs9535826, NG_008806.1:g.24505A>G, NG_008806.1:g.24505A>C, XM_011535118.1:c.52-16822A>C, 9535826, XM_005266427.1:c.52-16822A>C, NC_000013.10:g.52566126=, XR_245388.1:n.271-16822A>C, XR_941602.1:n.271-16822A>C, NM_001243182.1:c.52-16822A>C, NG_008806.1:g.24505=, XM_011535120.1:c.52-16822A>C, rs61446037, XM_005266425.1:c.52-16822A>C, XM_011535117.1:c.-46+14518A>C, XM_005266433.1:c.52-16822A>C, NC_000013.11:g.51991990T>C, XM_005266430.3:c.52-16822A>C, XM_005266431.2:c.15+3324A>C, XM_005266431.1:c.15+3324A>C, NM_000053.3:c.52-16822A>C, XM_011535121.1:c.52-16822A>C, NC_000013.11:g.51991990=, NC_000013.10:g.52566126T>G, XM_005266432.2:c.52-16822A>C, XR_941601.1:n.271-16822A>C +PA166154737 rs9535828 PA73 ATP7B NC_000013.11:51999286 1 1 0 0 0 NC_000013.11:g.51999286=, XM_005266432.1:c.51+12001C>T, XM_005266427.2:c.51+12001C>T, NG_008806.1:g.17209C>T, NC_000013.10:g.52573422=, NG_008806.1:g.17209C>G, XM_005266425.1:c.51+12001C>T, XR_941601.1:n.270+12001C>T, NM_001243182.1:c.51+12001C>T, NC_000013.11:g.51999286G>A, XM_005266428.1:c.51+12001C>T, NG_008806.1:g.17209C>A, NM_000053.3:c.51+12001C>T, 9535828, NC_000013.11:g.51999286G>C, XM_011535117.1:c.-46+7222C>T, XM_011535121.1:c.51+12001C>T, XM_005266432.2:c.51+12001C>T, rs9535828, NC_000013.10:g.52573422G>A, XM_011535118.1:c.51+12001C>T, XR_245388.1:n.270+12001C>T, NC_000013.10:g.52573422G>C, XR_941602.1:n.270+12001C>T, XM_005266430.3:c.51+12001C>T, XR_941603.1:n.270+12001C>T, NM_001005918.2:c.51+12001C>T, NC_000013.11:g.51999286G>T, XM_005266427.1:c.51+12001C>T, XM_005266429.1:c.51+12001C>T, XM_005266430.1:c.51+12001C>T, XM_005266433.1:c.51+12001C>T, NC_000013.10:g.52573422G>T, XM_011535120.1:c.51+12001C>T, XR_941604.1:n.270+12001C>T, NG_008806.1:g.17209=, XM_011535119.1:c.51+12001C>T, XM_005266426.1:c.51+12001C>T +PA166154690 rs953977 NC_000013.11:40126485 1 1 0 0 0 rs58047607, rs56630385, 953977, 56630385, 58047607, NC_000013.11:g.40126485G>T, rs953977, NC_000013.10:g.40700622G>T, NC_000013.10:g.40700622=, XM_011535337.1:c.126-6960C>A, XM_011535338.1:c.54-6960C>A, NC_000013.11:g.40126485= +PA166159119 rs9545683 NC_000013.11:81425028 1 0 0 0 0 NC_000013.11:g.81425028=, NC_000013.11:g.81425028C>T, rs9545683, NC_000013.10:g.81999163=, NC_000013.10:g.81999163C>T, 9545683 +PA166154738 rs9552679 NC_000013.11:22657781 1 1 0 0 0 NC_000013.10:g.23231920=, NC_000013.11:g.22657781T>C, rs9552679, 9552679, NC_000013.11:g.22657781=, NC_000013.10:g.23231920T>C, 60874055, rs60874055 +PA166161479 rs9554320 PA28180 FLT1 NC_000013.11:28312790 2 0 0 0 0 NG_012003.1:g.187339T>C, 9554320, NC_000013.11:g.28312790A>T, rs9554320, NG_012003.1:g.187339T>A, NC_000013.10:g.28886927A>G, NC_000013.11:g.28312790=, NG_012003.1:g.187339=, NG_012003.1:g.187339T>G, NC_000013.10:g.28886927A>C, NC_000013.10:g.28886927=, NC_000013.11:g.28312790A>G, NC_000013.10:g.28886927A>T, NC_000013.11:g.28312790A>C +PA166154739 rs9556455 PA397 ABCC4 NC_000013.11:95045162 1 0 0 0 0 XM_006719914.1:c.3367-724C>T, NC_000013.10:g.95697416G>A, XM_005254026.1:c.3316-724C>T, XM_005254027.1:c.3232-724C>T, XM_011521047.1:c.2908-724C>T, NC_000013.10:g.95697416=, rs9556455, 9556455, NC_000013.11:g.95045162=, NG_050651.1:g.261285C>T, NC_000013.11:g.95045162G>A, NM_005845.4:c.3457-724C>T, NG_050651.1:g.261285=, NM_001301829.1:c.3316-724C>T, XM_005254025.2:c.3328-724C>T, XM_005254025.1:c.3328-724C>T +PA166155610 rs956115 PA143485593 RHBDD1 NC_000002.12:226809848 1 0 0 0 0 NC_000002.12:g.226809848=, NC_000002.11:g.227674564C>G, 956115, NC_000002.12:g.226809848C>T, rs956115, NC_000002.11:g.227674564C>T, NC_000002.11:g.227674564=, NC_000002.12:g.226809848C>G, XR_923964.1:n.1651C>G, XR_923965.1:n.1025-1064C>G +PA166154740 rs9561765 PA397 ABCC4 NC_000013.11:95030989 1 1 0 0 0 NC_000013.10:g.95683243=, NG_050651.1:g.275458=, NC_000013.11:g.95030989G>A, NC_000013.11:g.95030989=, NG_050651.1:g.275458C>T, XM_005254025.1:c.3741+3616C>T, XM_011521047.1:c.3321+3616C>T, 56438143, rs17234915, XM_006719914.1:c.3780+3616C>T, XM_005254026.1:c.3729+3616C>T, NM_005845.4:c.3870+3616C>T, NM_001301829.1:c.3729+3616C>T, XM_005254027.1:c.3645+3616C>T, 17234915, rs9561765, 9561765, rs56438143, XM_005254025.2:c.3741+3616C>T, NC_000013.10:g.95683243G>A +PA166154741 rs9561778 PA397 ABCC4 NC_000013.11:95061461 4 2 0 0 0 NC_000013.10:g.95713715G>A, 17234943, NC_000013.10:g.95713715G>C, NC_000013.11:g.95061461G>A, rs9561778, XM_005254025.1:c.3237+1243C>A, 9561778, NC_000013.11:g.95061461=, NC_000013.11:g.95061461G>C, NC_000013.10:g.95713715=, XM_005254026.1:c.3225+1243C>A, XM_005254027.1:c.3141+1243C>A, XM_011521047.1:c.2817+1243C>A, NG_050651.1:g.244986C>T, rs17234943, NC_000013.10:g.95713715G>T, NC_000013.11:g.95061461G>T, NM_005845.4:c.3366+1243C>A, XM_005254025.2:c.3237+1243C>A, NG_050651.1:g.244986=, NG_050651.1:g.244986C>G, NM_001301829.1:c.3225+1243C>A, NG_050651.1:g.244986C>A, XM_006719914.1:c.3276+1243C>A +PA166154742 rs9566990 PA36619 TNFSF11 NC_000013.11:42590574 1 0 0 0 0 NC_000013.11:g.42590574C>G, 57715463, NM_033012.3:c.168+9281C>G, NC_000013.10:g.43164710=, NC_000013.11:g.42590574=, 17536433, 9566990, rs57715463, rs9566990, XM_011535280.1:c.168+9281C>G, NC_000013.10:g.43164710C>G, NG_008990.1:g.32839C>G, rs17536433, NG_008990.1:g.32839=, NM_003701.3:c.387+9281C>G +PA166161292 rs9567733 NC_000013.11:46827200 1 1 0 0 0 NC_000013.10:g.47401335A>T, NC_000013.10:g.47401335A>G, NC_000013.10:g.47401335A>C, NC_000013.10:g.47401335=, NC_000013.11:g.46827200A>G, 9567733, 60327560, rs9567733, NC_000013.11:g.46827200A>T, NC_000013.11:g.46827200=, NC_000013.11:g.46827200A>C +PA166163150 rs9567746 PA193 HTR2A NC_000013.11:46882413 1 0 0 0 0 NC_000013.10:g.47456548A>G, NC_000013.11:g.46882413A>C, NG_013011.1:g.19622T>G, 52827935, NC_000013.11:g.46882413A>G, NC_000013.10:g.47456548=, NC_000013.11:g.46882413=, 9567746, NG_013011.1:g.19622=, rs9567746, NC_000013.10:g.47456548A>C, NG_013011.1:g.19622T>C +PA166170090 rs9574 PA33800 PROCR NC_000020.11:35176829 1 0 0 0 0 9574, NC_000020.11:g.35176829C>G, 3171379, NC_000020.10:g.33764632=, NC_000020.11:g.35176829=, NC_000020.10:g.33764632C>A, rs9574, 59781386, NG_032899.2:g.9859C>T, NC_000020.11:g.35176829C>T, NG_032899.2:g.9859C>A, NC_000020.10:g.33764632C>G, NG_032899.2:g.9859=, 1801551, NC_000020.11:g.35176829C>A, NC_000020.10:g.33764632C>T, NG_032899.2:g.9859C>G +PA166161476 rs9582036 PA28180 FLT1 NC_000013.11:28311271 3 0 0 0 0 NC_000013.11:g.28311271C>G, NC_000013.10:g.28885408=, NC_000013.11:g.28311271C>A, NG_012003.1:g.188858G>C, NC_000013.10:g.28885408C>G, NC_000013.10:g.28885408C>A, NG_012003.1:g.188858G>A, NC_000013.11:g.28311271C>T, NC_000013.11:g.28311271=, NG_012003.1:g.188858=, NC_000013.10:g.28885408C>T, NG_012003.1:g.188858G>T, rs9582036, 9582036 +PA166154743 rs9585618 PA162396840 NALCN NC_000013.11:101071689 1 0 0 0 0 rs9585618, NC_000013.11:g.101071689T>A, NC_000013.10:g.101724041T>G, NC_000013.10:g.101724041T>A, rs56839547, NC_000013.10:g.101724041T>C, 9585618, NG_053176.1:g.350518A>T, NC_000013.11:g.101071689T>G, NC_000013.10:g.101724041=, NC_000013.11:g.101071689T>C, NM_052867.2:c.4197+1895A>G, NG_053176.1:g.350518=, XM_011521069.1:c.4167+1895A>G, XM_011521070.1:c.3975+1895A>G, NC_000013.11:g.101071689=, NG_053176.1:g.350518A>G, XM_011521068.1:c.4197+1895A>G, NG_053176.1:g.350518A>C, XM_011521067.1:c.4254+1895A>G, 56839547 +PA166254981 rs958804 PA25076 ASTN2 NC_000009.12:117196574 1 1 0 0 0 58385272, NC_000009.12:g.117196574=, NC_000009.12:g.117196574T>C, NC_000009.11:g.119958853T>C, NC_000009.11:g.119958853=, 958804, rs958804, NG_021409.2:g.223484A>G, NG_021409.2:g.223484= +PA166153540 rs959 PA288 PTGER3 NC_000001.11:70852578 1 0 0 0 0 XM_011541810.1:c.*218A>G, rs3198899, 3198899, rs57473697, XM_011541811.1:c.*285A>G, rs959, XR_946714.1:n.1716A>G, XR_947502.1:n.216-2460T>C, NG_029509.2:g.200231A>G, NC_000001.11:g.70852578=, NC_000001.11:g.70852578T>C, NR_028294.1:n.1855A>G, NG_029509.1:g.200231A>G, 57473697, NG_029509.1:g.200231=, NC_000001.10:g.71318261=, XR_426711.2:n.348-2460T>C, 959, NM_198717.1:c.*261A>G, NR_028292.1:n.1786A>G, NR_028293.1:n.1759A>G, NM_198714.1:c.*305A>G, NG_029509.2:g.200231=, NC_000001.10:g.71318261T>C, XM_005271051.1:c.*346A>G, XR_426712.2:n.355-378T>C, XM_005271052.1:c.*346A>G, XM_005271053.1:c.*346A>G, NM_198716.1:c.*261A>G +PA166154744 rs9590353 PA38015 UGGT2 NC_000013.11:95978967 1 1 0 0 0 60931101, XM_011521096.1:c.1092+4837A>C, NC_000013.11:g.95978967T>G, XM_011521099.1:c.30+4837A>C, NC_000013.10:g.96631221T>G, XM_005254066.1:c.1092+4837A>C, XM_011521100.1:c.1092+4837A>C, XR_931617.1:n.1217+4837A>C, XM_005254068.1:c.1092+4837A>C, NC_000013.11:g.95978967=, rs60931101, XM_011521101.1:c.1092+4837A>C, XM_011521097.1:c.1092+4837A>C, rs9590353, XM_005254069.1:c.30+4837A>C, 9590353, NM_020121.3:c.1092+4837A>C, XM_011521095.1:c.1092+4837A>C, XM_011521094.1:c.1092+4837A>C, XM_011521098.1:c.132+4837A>C, NC_000013.10:g.96631221=, XM_005254067.1:c.1092+4837A>C +PA166154745 rs9594782 PA36619 TNFSF11 NC_000013.11:42577050 1 0 0 0 0 NC_000013.11:g.42577050=, NG_008990.1:g.19315T>C, XM_011535280.1:c.-1+2046T>C, 9594782, NG_008990.1:g.19315=, NM_033012.3:c.1-4076T>C, rs9594782, NC_000013.11:g.42577050T>C, NM_003701.3:c.219+2528T>C, NC_000013.10:g.43151186=, NC_000013.10:g.43151186T>C +PA166154979 rs9597 PA25252,PA34809,PA37134 BAIAP3,RPS20P2,UBE2I NC_000016.10:1324950 2 1 0 0 0 9597, NC_000016.9:g.1374951C>G, NM_003345.4:c.*157C>G, NM_194260.2:c.*157C>G, NC_000016.9:g.1374951=, NC_000016.10:g.1324950C>G, NC_000016.10:g.1324950=, NM_194261.2:c.*157C>G, rs9597, NM_194259.2:c.*157C>G, XM_005255544.1:c.*157C>G, NC_000016.9:g.1374951C>T, 74248366, NC_000016.10:g.1324950C>T, rs74248366 +PA166156134 rs9606186 PA117,PA38302 COMT,TXNRD2 NC_000022.11:19932836 3 1 0 0 0 NC_000022.10:g.19920359C>A, NC_000022.10:g.19920359C>G, rs13054936, NG_011835.1:g.14001G>T, NC_000022.11:g.19932836C>T, NM_006440.4:c.104-1738G>C, 9606186, XM_005261217.1:c.104-1738G>C, rs9606186, XM_005261215.1:c.-467G>C, NC_000022.10:g.19920359C>T, NG_011835.1:g.14001G>A, NC_000022.11:g.19932836C>G, NG_011835.1:g.14001G>C, XR_938006.1:n.-763C>G, NC_000022.10:g.19920359=, XM_005261218.1:c.7+598G>C, NM_001282512.1:c.104-1738G>C, XM_005261214.1:c.104-1741G>C, rs16982777, NC_000022.11:g.19932836C>A, NC_000022.11:g.19932836=, 13054936, XM_005261216.1:c.104-1738G>C, NG_011835.1:g.14001=, NM_006440.3:c.104-1738G>C, 16982777 +PA166156135 rs9611280 PA134992981 TNRC6B NC_000022.11:40156115 1 0 0 0 0 NM_001024843.1:c.46G>A, XP_005261450.1:p.Val16Met, NC_000022.10:g.40552119G>T, rs52808489, XP_005261451.1:p.Val16Met, XM_005261393.1:c.46G>A, rs61442552, NC_000022.11:g.40156115=, NC_000022.10:g.40552119G>A, XM_005261394.1:c.46G>A, 52808489, NC_000022.11:g.40156115G>A, NC_000022.10:g.40552119=, NC_000022.11:g.40156115G>T, 61442552, NP_001020014.1:p.Val16Met, NP_001020014.1:p.Val16Leu, NP_001020014.1:p.Val16=, rs9611280, 9611280 +PA166177405 rs961253 NC_000020.11:6423634 1 0 0 0 0 13040819, NC_000020.11:g.6423634=, NC_000020.10:g.6404281=, NC_000020.11:g.6423634C>A, 961253, rs961253, NC_000020.10:g.6404281C>A +PA166257822 rs9620007 PA145147710 WBP2NL NC_000022.11:42009653 1 1 0 0 0 NC_000022.10:g.42405657C>G, NC_000022.11:g.42009653C>A, NC_000022.11:g.42009653C>G, NC_000022.10:g.42405657C>A, 12169817, NC_000022.11:g.42009653=, rs9620007, 9620007, NC_000022.10:g.42405657= +PA166156136 rs9621532 PA36278 SYN3 NC_000022.11:32688525 1 0 0 0 0 NM_001135774.1:c.709-91789T>G, XM_011530410.1:c.358-91789T>G, NM_133633.2:c.712-91789T>G, NC_000022.10:g.33084511A>C, 60243057, NG_029545.1:g.374867=, XM_011530406.1:c.712-91789T>G, XM_011530413.1:c.712-26901T>G, 200483076, NC_000022.11:g.32688525=, XM_011530405.1:c.712-91789T>G, rs60243057, XM_011530409.1:c.712-91789T>G, NM_003490.3:c.712-91789T>G, NC_000022.11:g.32688525A>C, XM_011530408.1:c.712-91789T>G, NG_029545.1:g.374867T>G, XM_011530414.1:c.712-26901T>G, rs200483076, XM_011530411.1:c.712-91789T>G, XR_937927.1:n.1196-91789T>G, rs9621532, XM_011530407.1:c.712-91789T>G, XM_011530412.1:c.-55+79121T>G, 9621532, NC_000022.10:g.33084511= +PA166154303 rs962369 PA31891 BDNF NC_000011.10:27712873 3 1 0 0 0 rs17309916, rs4537719, NC_000011.9:g.27734420=, rs962369, NC_000011.10:g.27712873T>C, rs386623852, NM_170731.4:c.3+8539A>G, 4537719, NM_170732.4:c.-22+7473A>G, NM_001143806.1:c.-22+7556A>G, rs74233746, NG_011794.1:g.14186A>G, NM_001143805.1:c.-22+7771A>G, 962369, NC_000011.10:g.27712873=, NG_011794.1:g.14186=, NM_001143807.1:c.-22+6638A>G, 74233746, 386623852, NC_000011.9:g.27734420T>C, 17309916 +PA166156137 rs9626730 PA280 PPARA NC_000022.11:46166284 1 1 0 0 0 XM_006724269.2:c.-123-10469T>C, NG_012204.1:g.20685=, NM_005036.4:c.-126-10467T>C, 11090773, XM_011530239.1:c.-223-10469T>C, NC_000022.10:g.46562183=, NM_001001928.2:c.-43+14310T>C, rs35718056, NG_012204.2:g.20751T>C, XM_011530244.1:c.-632-10469T>C, XM_005261655.1:c.-126-10467T>C, rs52826906, rs9626730, 9626730, NC_000022.11:g.46166284T>C, XM_011530240.1:c.-226-10469T>C, XM_005261655.2:c.-126-10469T>C, XM_005261653.1:c.-43+14310T>C, XM_011530241.1:c.-140+14314T>C, 52826906, XM_005261654.1:c.-40+14310T>C, XR_938315.1:n.249-4962A>G, XM_006724270.2:c.-40+14314T>C, XM_011530245.1:c.-449+14314T>C, NC_000022.11:g.46166284=, NC_000022.10:g.46562183T>C, rs11090773, NG_012204.1:g.20685T>C, XR_937869.1:n.190-10469T>C, 35718056, XR_244379.1:n.181+14310T>C, XR_937870.1:n.189-10469T>C, NG_012204.2:g.20751= +PA166179056 rs9626736 PA280 PPARA NC_000022.11:46174335 1 0 0 0 0 NG_012204.1:g.28734=, NC_000022.10:g.46570232A>G, NC_000022.11:g.46174335=, NG_012204.2:g.28802A>G, NC_000022.11:g.46174335A>G, NG_012204.1:g.28734A>G, NC_000022.10:g.46570232=, rs9626736, 9626736, NG_012204.2:g.28802= +PA166156138 rs9627183 NC_000022.11:47888765 1 0 0 0 0 NC_000022.11:g.47888765=, NC_000022.11:g.47888765G>A, 59941747, rs59941747, NC_000022.10:g.48284514G>A, 9627183, rs9627183, NC_000022.10:g.48284514= +PA166156301 rs963468 PA27479 DRD3 NC_000003.12:114144040 2 1 0 0 0 XM_005247170.1:c.526+3375C>T, NM_000796.5:c.526+3375C>T, NC_000003.12:g.114144040G>C, XM_011512511.1:c.526+3375C>T, NC_000003.12:g.114144040G>A, rs963468, NC_000003.11:g.113862887G>C, NM_033663.5:c.526+3375C>T, NC_000003.11:g.113862887G>A, NG_008842.2:g.60368C>G, NG_008842.2:g.60368C>T, XM_011512510.1:c.526+3375C>T, 963468, 57220853, NC_000003.11:g.113862887=, XM_005247171.1:c.526+3375C>T, rs57220853, 3773680, rs3773680, NM_001290809.1:c.526+3375C>T, NM_001282563.2:c.526+3375C>T, XM_011512512.1:c.526+3375C>T, NC_000003.12:g.114144040=, NG_008842.2:g.60368= +PA166176247 rs963549 PA31943 OPRK1 NC_000008.11:53229264 6 1 0 0 0 NC_000008.11:g.53229264C>T, 963549, rs963549, NC_000008.11:g.53229264=, 3739350, NC_000008.10:g.54141824C>T, NP_001305426.1:p.Ser392=, 59645338, NC_000008.10:g.54141824= +PA166160875 rs9637468 NC_000003.12:63042758 1 0 0 0 0 NC_000003.11:g.63028434=, 9637468, rs9637468, NC_000003.11:g.63028434C>T, NC_000003.12:g.63042758=, NC_000003.12:g.63042758C>T, 17296070 +PA166154304 rs964184 PA49,PA37629 APOA1,ZPR1 NC_000011.10:116778201 2 1 0 0 0 12800211, rs12800211, 964184, NC_000011.9:g.116648917=, NM_003904.4:c.*724C>G, NC_000011.9:g.116648917G>C, NM_001317086.1:c.*724C>G, rs17120026, NC_000011.10:g.116778201G>C, NC_000011.10:g.116778201=, rs964184, 17120026 +PA166155314 rs9646629 PA36601 TNFRSF11A NC_000018.10:62383966 1 0 0 0 0 NM_001278268.1:c.1526-785C>G, NG_008098.1:g.63652C>T, NM_003839.3:c.1568-785C>G, NC_000018.9:g.60051199=, NC_000018.9:g.60051199C>T, XM_011526245.1:c.1460-785C>G, NC_000018.9:g.60051199C>G, XM_011526244.1:c.1583-785C>G, NC_000018.10:g.62383966C>A, NM_001270951.1:c.617-785C>G, NM_001270950.1:c.731-785C>G, NC_000018.9:g.60051199C>A, 9646629, rs9646629, NC_000018.10:g.62383966C>G, NM_001270949.1:c.784-785C>G, NC_000018.10:g.62383966=, NC_000018.10:g.62383966C>T, NG_008098.1:g.63652C>A, NG_008098.1:g.63652C>G, XR_935263.1:n.1746-785C>G, 61518736, NG_008098.1:g.63652=, rs61518736, NM_003839.2:c.1568-785C>G +PA166160105 rs9648623 PA38657 GLCCI1 NC_000007.14:8058510 1 0 0 0 0 NC_000007.14:g.8058510=, rs9648623, NG_032073.1:g.94767G>A, NC_000007.14:g.8058510G>A, 9648623, NG_032073.1:g.94767=, 57831814, NC_000007.13:g.8098140=, NC_000007.13:g.8098140G>A +PA166157627 rs9657182 PA29869 IDO1 NC_000008.11:39908329 2 1 0 0 0 NC_000008.10:g.39765848C>T, 9657182, NC_000008.10:g.39765848=, rs9657182, NC_000008.11:g.39908329C>T, 10216594, NC_000008.11:g.39908329=, NC_000008.11:g.39908329C>G, rs10216594, 61067666, NC_000008.10:g.39765848C>G, rs61067666 +PA166157628 rs9657362 PA24967 ARHGEF10 NC_000008.11:1885635 2 0 0 0 0 NP_055444.2:p.Leu370=, XP_011544865.1:p.Leu371Phe, 57380468, NP_001295082.1:p.Leu395Phe, NC_000008.11:g.1885635G>T, XM_011534770.1:c.1113G>C, XM_011546566.1:c.1068G>C, XM_005266040.3:c.1185G>C, XM_005266041.1:c.1113G>C, XP_011533070.1:p.Leu371Phe, XP_011544869.1:p.Leu371Phe, XM_011534768.1:c.1113G>C, XP_005266099.1:p.Leu332Phe, XP_006725174.1:p.Leu332Phe, NM_001308153.1:c.1185G>C, NT_187576.1:g.69011G>C, NP_055444.2:p.Leu370Phe, NG_008480.1:g.66653G>C, NG_008480.1:g.66653=, rs57380468, NC_000008.10:g.1833801=, XM_006725106.2:c.1185G>C, XM_011534767.1:c.993G>C, XP_006725169.1:p.Leu395Phe, rs52817136, NM_014629.3:c.1110G>C, XP_011544868.1:p.Leu356Phe, 9657362, XM_011534766.1:c.1113G>C, XP_011533071.1:p.Leu356Phe, XM_011546564.1:c.993G>C, XP_011544867.1:p.Leu371Phe, XM_011546567.1:c.1113G>C, XP_011533072.1:p.Leu371Phe, XM_011546565.1:c.1113G>C, XP_011533068.1:p.Leu371Phe, NM_014629.2:c.1110G>C, XP_006725170.1:p.Leu371Phe, NP_001295081.1:p.Leu332Phe, XM_011534769.1:c.1068G>C, NG_008480.1:g.66653G>T, rs9657362, 52817136, XP_005266096.1:p.Leu394Phe, XP_005266097.1:p.Leu395Phe, XM_005266040.1:c.1185G>C, XM_005266039.1:c.1182G>C, XM_006725107.2:c.1113G>C, NC_000008.10:g.1833801G>C, XP_011533069.1:p.Leu331Phe, XM_005266041.2:c.1113G>C, XP_011544866.1:p.Leu331Phe, XM_005266042.1:c.996G>C, XM_006725111.1:c.996G>C, NM_001308152.1:c.996G>C, XM_011546563.1:c.1113G>C, XP_005266098.1:p.Leu371Phe, NC_000008.11:g.1885635=, NC_000008.11:g.1885635G>C, NC_000008.10:g.1833801G>T +PA166170544 rs9659997 PA29560 HTR6 NC_000001.11:19676025 1 0 0 0 0 NC_000001.10:g.20002518=, NC_000001.11:g.19676025C>G, NC_000001.11:g.19676025=, 9659997, rs9659997, NC_000001.10:g.20002518C>G, NC_000001.10:g.20002518C>T, 60068352, NC_000001.11:g.19676025C>T +PA166301701 rs966775 NC_000005.10:175336319 1 0 0 0 0 NC_000005.9:g.174763322=, NC_000005.9:g.174763322A>G, rs966775, 60127640, NC_000005.10:g.175336319=, 386624177, 966775, NC_000005.10:g.175336319A>G, 56572560 +PA166169488 rs967527 PA36055 SPARC NC_000005.10:151675158 1 0 0 0 0 NC_000005.10:g.151675158T>C, NC_000005.9:g.151054719T>A, 60545196, NC_000005.10:g.151675158T>A, NC_000005.9:g.151054719T>C, rs967527, 3776961, NG_042174.1:g.16897=, NC_000005.9:g.151054719=, 56441809, 17741606, NG_042174.1:g.16897A>G, 967527, NC_000005.10:g.151675158=, 59532221, NG_042174.1:g.16897A>T +PA166155359 rs967591 PA142672156,PA34195 POLR1G,PPP1R13L NC_000019.10:45406676 1 0 0 0 0 NM_001142502.1:c.-406C>T, NM_006663.3:c.-1699C>T, 967591, NG_015839.2:g.77153C>A, NG_015839.2:g.77153=, XM_005258424.1:c.-196C>T, NC_000019.10:g.45406676=, NG_015839.2:g.77153C>G, NC_000019.10:g.45406676G>A, NM_001297590.1:c.-21G>A, rs35294695, NC_000019.10:g.45406676G>C, NC_000019.9:g.45909934=, NC_000019.9:g.45909934G>T, 35294695, NG_015839.2:g.77153C>T, XM_005258425.1:c.-21G>A, rs967591, NC_000019.9:g.45909934G>C, NC_000019.9:g.45909934G>A, NM_012099.1:c.-21G>A, NC_000019.10:g.45406676G>T +PA166155171 rs967676 PA25985 CA10 NC_000017.11:51882949 1 1 0 0 0 NC_000017.11:g.51882949T>G, rs58910484, NM_020178.4:c.279+48041A>G, NC_000017.11:g.51882949=, NM_001082533.1:c.279+48041A>G, 967676, 58910484, NC_000017.10:g.49960309=, rs967676, NC_000017.10:g.49960309T>G, NC_000017.10:g.49960309T>C, NM_001082534.1:c.279+48041A>G, NC_000017.11:g.51882949T>C +PA166155774 rs9679162 PA134920089 GALNT14 NC_000002.12:31024648 7 3 0 0 0 NR_045602.1:n.903-31641C>A, rs56573917, 60984987, NC_000002.12:g.31024648=, XM_011533104.1:c.448-31641C>A, 9679162, XM_005264559.1:c.25-31641C>A, NC_000002.11:g.31247514=, rs9679162, NM_001253826.1:c.315-58346C>A, NG_051040.1:g.119079=, XM_011533105.1:c.70-31641C>A, rs57478659, rs60984987, 56573917, NG_051040.1:g.119079C>A, 57478659, NC_000002.11:g.31247514G>T, NC_000002.12:g.31024648G>T, NM_001253827.1:c.70-31641C>A, NM_024572.3:c.130-31641C>A, XM_011533106.1:c.43-31641C>A +PA166155775 rs9679290 PA27809 EPAS1 NC_000002.12:46330505 1 0 0 0 0 9679290, rs9679290, NG_016000.1:g.38104=, XM_011532698.1:c.65+4629G>C, 56551236, NC_000002.12:g.46330505=, 60991579, NC_000002.11:g.46557644G>C, rs17802721, NG_016000.1:g.38104G>C, NM_001430.4:c.27-16368G>C, XR_940055.1:n.2355+5279C>G, rs56551236, NC_000002.11:g.46557644=, 17802721, rs60991579, NC_000002.12:g.46330505G>C +PA166210021 rs9679319 NC_000002.12:103517974 1 1 0 0 0 rs9679319, NC_000002.11:g.104134432T>G, NC_000002.11:g.104134432T>A, NC_000002.11:g.104134432=, 9679319, NC_000002.12:g.103517974T>A, NC_000002.11:g.104134432T>C, NC_000002.12:g.103517974=, NC_000002.12:g.103517974T>C, NC_000002.12:g.103517974T>G +PA166161855 rs96844 NC_000005.10:56900777 2 1 0 0 0 NC_000005.9:g.56196604G>A, 96844, 2548670, 386624266, 832542, rs96844, 60201803, NC_000005.9:g.56196604=, NC_000005.10:g.56900777=, NC_000005.10:g.56900777G>A +PA166203441 rs9694958 PA29776 IKBKB NC_000008.11:42298528 2 1 0 0 0 9694958, NG_041793.1:g.32227A>G, 60490871, rs9694958, NC_000008.11:g.42298528A>G, 17875689, NC_000008.10:g.42156046A>G, NG_041793.1:g.32227=, NC_000008.10:g.42156046=, NC_000008.11:g.42298528= +PA166170511 rs9698290 PA194,PA165757020 HTR2C,MIR764 NC_000023.11:114638137 1 0 0 0 0 NC_000023.11:g.114638137T>C, 17260579, NC_000023.10:g.113872608C>A, NC_000023.11:g.114638137=, NG_012082.2:g.59053T>A, NG_012082.2:g.59053=, rs9698290, 9698290, NC_000023.11:g.114638137T>A, NC_000023.10:g.113872608C>T, NG_012082.2:g.59053T>C +PA166314661 rs971074 PA24577 ADH7 NC_000004.12:99420704 1 0 0 0 0 386624417, NC_000004.12:g.99420704=, NC_000004.11:g.100341861=, NC_000004.11:g.100341861C>T, NP_000664.3:p.Arg218=, NC_000004.12:g.99420704C>T, 56716360, 971074, rs971074 +PA166307485 rs971157376 PA390 ABCG2 NC_000004.12:88101284 1 0 0 0 0 NP_004818.2:p.Cys438Tyr, 971157376, NP_004818.2:p.Cys438=, rs971157376, NG_032067.2:g.135039=, NC_000004.11:g.89022436=, NC_000004.11:g.89022436C>T, NG_032067.2:g.135039G>A, NC_000004.12:g.88101284C>T, NC_000004.12:g.88101284= +PA166155585 rs9713 PA134957776 PSMD14 NC_000002.12:161308497 1 0 0 0 0 rs60006804, rs4081774, 4081774, rs12987016, NM_005805.5:c.-245A>T, 60006804, NC_000002.11:g.162165008=, rs9713, NC_000002.12:g.161308497=, NC_000002.12:g.161308497A>T, 9713, 12987016, NC_000002.11:g.162165008A>T +PA166155275 rs971363 PA29861 IMPA2 NC_000018.10:11980461 1 0 0 0 0 rs59331837, XM_011525661.1:c.-1703T>G, 59331837, NC_000018.10:g.11980461T>G, NM_014214.2:c.-1209T>G, NC_000018.10:g.11980461=, rs971363, NG_028104.1:g.4006T>G, NC_000018.9:g.11980460=, NC_000018.9:g.11980460T>G, NG_028104.1:g.4006=, 971363 +PA166159127 rs9725457 PA391 NR1I3 NC_000001.11:161231784 1 1 0 0 0 NG_029113.1:g.11427C>T, NC_000001.11:g.161231784=, NC_000001.10:g.161201574=, 9725457, rs9725457, NC_000001.10:g.161201574G>T, NG_029113.1:g.11427C>A, NC_000001.11:g.161231784G>A, NG_029113.1:g.11427=, NC_000001.10:g.161201574G>A, NC_000001.11:g.161231784G>T +PA166163205 rs9732195 NC_000010.11:94660582 1 0 0 0 0 9732195, 137891020, NC_000010.10:g.96420339=, NC_000010.10:g.96420339G>T, NC_000010.11:g.94660582G>T, rs9732195, NC_000010.11:g.94660582= +PA166309281 rs973541788 PA30124 KIR3DL2 NC_000019.10:54866420 1 0 0 0 0 973541788, NC_000019.9:g.55377875=, NC_000019.10:g.54866420=, NG_012802.2:g.21101=, NC_000019.10:g.54866420C>G, NG_012802.2:g.21101C>G, NP_006728.2:p.Gln386=, rs973541788, NP_006728.2:p.Gln386Glu, NC_000019.9:g.55377875C>G +PA166157282 rs978739 PA37931 TAS2R16 NC_000007.14:122995846 1 0 0 0 0 386624868, NM_016945.2:c.-212A>G, NC_000007.13:g.122635900T>C, NG_011980.1:g.4855=, 978739, NC_000007.13:g.122635900T>G, 17145286, rs11489653, 11489653, NC_000007.14:g.122995846=, rs17145286, NC_000007.14:g.122995846T>G, NG_011980.1:g.4855A>G, NG_011980.1:g.4855A>C, rs386624868, NC_000007.13:g.122635900=, rs978739, NC_000007.14:g.122995846T>C +PA166182188 rs9787901 NC_000011.10:45674603 1 1 0 0 0 NC_000011.10:g.45674603G>A, rs9787901, 9787901, NC_000011.9:g.45696153G>C, NC_000011.10:g.45674603G>C, NC_000011.9:g.45696153G>A, 61425949, NC_000011.9:g.45696153=, NC_000011.10:g.45674603= +PA166287201 rs979605 PA236 MAOA NC_000023.11:43742116 1 0 0 0 0 NG_008957.2:g.90956A>G, NC_000023.11:g.43742116=, NC_000023.11:g.43742116A>G, 979605, NC_000023.10:g.43601363A>T, 56433112, NG_008957.2:g.90956=, 61149340, NC_000023.11:g.43742116A>T, NG_008957.2:g.90956A>T, NC_000023.10:g.43601363=, rs979605, NC_000023.10:g.43601363A>G +PA166154927 rs9806699 PA28590 GATM NC_000015.10:45448194 8 1 0 0 0 rs9806699, 58677873, 9806699, NC_000015.10:g.45448194G>T, NC_000015.9:g.45740392G>A, NC_000015.9:g.45740392G>C, NC_000015.10:g.45448194=, NC_000015.10:g.45448194G>A, NC_000015.10:g.45448194G>C, rs58677873, NC_000015.9:g.45740392=, NC_000015.9:g.45740392G>T, XM_011522289.1:c.-478G>A +PA166179917 rs9817063 PA27479 DRD3 NC_000003.12:114128261 1 0 0 0 0 NC_000003.11:g.113847108T>A, NC_000003.12:g.114128261T>A, NC_000003.12:g.114128261=, NC_000003.12:g.114128261T>C, NC_000003.11:g.113847108=, 9817063, rs9817063, NG_008842.2:g.76147A>G, 56970181, NG_008842.2:g.76147=, NG_008842.2:g.76147A>T, NC_000003.11:g.113847108T>C +PA166177117 rs9819548 PA162410152 ZNF385D NC_000003.12:21757051 1 1 0 0 0 rs9819548, NC_000003.11:g.21798543G>C, NC_000003.11:g.21798543G>A, NC_000003.12:g.21757051=, NC_000003.12:g.21757051G>T, 59253737, NC_000003.11:g.21798543=, 9819548, NC_000003.12:g.21757051G>A, NC_000003.11:g.21798543G>T, NC_000003.12:g.21757051G>C +PA166181119 rs982003 PA88 CACNB2 NC_000010.11:18418367 1 0 0 0 0 NG_016195.1:g.282691C>T, rs982003, NC_000010.11:g.18418367C>A, NC_000010.10:g.18707296C>T, NG_016195.1:g.282691=, NC_000010.10:g.18707296=, 982003, NC_000010.11:g.18418367C>T, NG_016195.1:g.282691C>A, NC_000010.11:g.18418367=, NC_000010.10:g.18707296C>G, 61530114, NC_000010.10:g.18707296C>A, NG_016195.1:g.282691C>G, NC_000010.11:g.18418367C>G +PA166177118 rs9824595 PA162410152 ZNF385D NC_000003.12:21757835 1 1 0 0 0 NC_000003.12:g.21757835=, rs9824595, NC_000003.11:g.21799327=, 59939276, NC_000003.11:g.21799327G>A, 9824595, NC_000003.12:g.21757835G>A, NC_000003.11:g.21799327G>C, NC_000003.12:g.21757835G>C, NC_000003.11:g.21799327G>T, NC_000003.12:g.21757835G>T +PA166156430 rs9825762 PA35000 SCN10A NC_000003.12:38724847 1 1 0 0 0 rs61209864, NG_031891.2:g.74164=, XM_005265371.1:c.3237+327A>G, NM_001293306.2:c.3225+327A>G, NM_001293307.2:c.2934+327A>G, XM_005265371.2:c.3237+327A>G, NC_000003.11:g.38766338T>C, NC_000003.12:g.38724847T>C, 61209864, NG_053903.1:g.2812T>C, XM_011533994.1:c.2943+327A>G, NC_000003.12:g.38724847=, NG_053903.1:g.2812=, XM_011533993.1:c.3234+327A>G, NC_000003.11:g.38766338=, rs9825762, NM_006514.3:c.3228+327A>G, NG_031891.2:g.74164A>G, 9825762 +PA166196821 rs9828223 NC_000003.12:111506078 1 1 0 0 0 rs9828223, 9828223, NC_000003.12:g.111506078=, NC_000003.12:g.111506078C>A, NC_000003.11:g.111224925=, NC_000003.11:g.111224925C>T, NC_000003.11:g.111224925C>A, NC_000003.12:g.111506078C>T, 58068789 +PA166184842 rs9829896 PA162392705,PA165697594 KAT2B,MIR3135A NC_000003.12:20135980 2 1 0 0 0 rs9829896, NC_000003.12:g.20135980=, 9829896, NC_000003.12:g.20135980C>T, NC_000003.11:g.20177472C>T, NC_000003.12:g.20135980C>A, NC_000003.11:g.20177472=, NC_000003.11:g.20177472C>A, 61168028 +PA166153605 rs983332 PA26971 CSRP3 NC_000001.11:87666697 1 1 0 0 0 61545609, NC_000001.10:g.88132380G>T, NC_000001.11:g.87666697G>T, NC_000001.11:g.87666697=, rs983332, rs61545609, NC_000001.10:g.88132380=, 983332 +PA166202943 rs9838667 PA395 ABCC5 NC_000003.12:183946890 1 0 0 0 0 NC_000003.11:g.183664678=, NG_047115.1:g.76121A>G, NC_000003.11:g.183664678T>C, NG_047115.1:g.76121A>C, NC_000003.11:g.183664678T>G, 9838667, NC_000003.12:g.183946890T>G, NG_047115.1:g.76121=, NC_000003.12:g.183946890T>C, NC_000003.12:g.183946890=, rs9838667 +PA166227802 rs9839376 PA30066 KCNMB2 NC_000003.12:178741877 1 0 0 0 0 rs9839376, NC_000003.11:g.178459665T>C, 9839376, NC_000003.12:g.178741877=, NC_000003.11:g.178459665=, 60621248, NC_000003.12:g.178741877T>C +PA166156482 rs9852 PA36342 TBC1D1 NC_000004.12:38137403 2 1 0 0 0 61627288, XM_005262650.1:c.*68C>T, XM_005262647.1:c.*68C>T, rs9852, NM_001253915.1:c.*68C>T, rs17580009, XM_011513663.1:c.*68C>T, XM_011513667.1:c.*68C>T, NC_000004.12:g.38137403C>T, rs61627288, XM_011513661.1:c.*68C>T, XM_005262646.1:c.*68C>T, XM_005262649.1:c.*68C>T, XM_005262651.1:c.*68C>T, NM_001253914.1:c.*68C>T, NM_015173.3:c.*68C>T, XM_006714001.1:c.*68C>T, NC_000004.12:g.38137403=, XM_011513660.1:c.*68C>T, XM_011513664.1:c.*68C>T, XM_011513670.1:c.*68C>T, NC_000004.11:g.38139024=, NC_000004.11:g.38139024C>T, XM_011513662.1:c.*68C>T, XM_011513659.1:c.*68C>T, 9852, XM_005262648.1:c.*68C>T, XM_011513665.1:c.*68C>T, NM_001253913.1:c.*68C>T, XM_011513669.1:c.*68C>T, rs3186425, 3186425, NM_001253912.1:c.*68C>T, 17580009, XM_011513666.1:c.*68C>T +PA166160404 rs985919 PA31786 NRXN1 NC_000002.12:50459875 1 0 0 0 0 59782456, NG_011878.1:g.577662G>T, NC_000002.12:g.50459875=, NC_000002.12:g.50459875C>A, NC_000002.11:g.50687013C>G, rs985919, 17534572, NC_000002.12:g.50459875C>T, NC_000002.11:g.50687013=, NG_011878.1:g.577662G>A, NC_000002.11:g.50687013C>T, NG_011878.1:g.577662G>C, NG_011878.1:g.577662=, 985919, NC_000002.11:g.50687013C>A, NC_000002.12:g.50459875C>G +PA166162317 rs9859538 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151373175 2 0 0 0 0 NG_016019.1:g.16582C>T, NC_000003.11:g.151090963=, NC_000003.12:g.151373175=, NC_000003.12:g.151373175G>A, NG_021244.1:g.291288G>A, NC_000003.11:g.151090963G>A, NG_021244.1:g.291288=, rs9859538, 9859538, 56442265, NG_016019.1:g.16582= +PA166156432 rs9859552 PA134884590,PA134971947 MED12L,P2RY12 NC_000003.12:151373208 1 1 0 0 0 NC_000003.12:g.151373208G>A, XM_011512386.1:c.3864+442G>T, NG_016019.1:g.16549C>A, XM_011512393.1:c.3864+442G>T, NG_021244.1:g.291321=, XM_011512395.1:c.3864+442G>T, NM_022788.4:c.-180+11484C>A, NC_000003.11:g.151090996G>T, NC_000003.11:g.151090996=, XM_011512391.1:c.3594+442G>T, NG_016019.1:g.16549C>T, NG_021244.1:g.291321G>T, XM_005247096.1:c.3864+442G>T, NC_000003.12:g.151373208=, NG_016019.1:g.16549=, XM_011512390.1:c.3759+442G>T, XM_011512392.1:c.3408+442G>T, XM_011512396.1:c.2289+442G>T, XM_011512387.1:c.3861+442G>T, XM_011512388.1:c.3864+442G>T, XM_011512398.1:c.1659+442G>T, NC_000003.12:g.151373208G>T, rs9859552, XM_011512400.1:c.681+442G>T, 9859552, XM_011512389.1:c.3759+442G>T, XM_011512397.1:c.1731+442G>T, NG_021244.1:g.291321G>A, NM_053002.5:c.3759+442G>T, XM_006713487.2:c.3864+442G>T, XM_011512394.1:c.3864+442G>T, NC_000003.11:g.151090996G>A +PA166185704 rs987237 PA36460 TFAP2B NC_000006.12:50835337 1 0 0 0 0 NC_000006.11:g.50803050=, 16880695, NG_008438.1:g.21612A>G, NC_000006.11:g.50803050A>G, NC_000006.12:g.50835337A>G, rs987237, NG_008438.1:g.21612=, 3822982, 987237, NC_000006.12:g.50835337=, 58928463 +PA166177119 rs9873889 PA162410152 ZNF385D NC_000003.12:21753431 1 1 0 0 0 NC_000003.11:g.21794923=, NC_000003.12:g.21753431C>G, NC_000003.11:g.21794923C>A, NC_000003.12:g.21753431=, NC_000003.12:g.21753431C>A, NC_000003.11:g.21794923C>G, NC_000003.12:g.21753431C>T, NC_000003.11:g.21794923C>T, rs9873889, 9873889 +PA166156433 rs9877159 NC_000003.12:190981553 1 0 0 0 0 9877159, rs9877159, NC_000003.11:g.190699342=, NC_000003.12:g.190981553G>A, NC_000003.12:g.190981553=, NC_000003.11:g.190699342G>A +PA166156434 rs9878448 NC_000003.12:30946248 1 0 0 0 0 NC_000003.11:g.30987740C>T, rs9878448, rs56563006, 56563006, 9878448, NC_000003.11:g.30987740=, NC_000003.12:g.30946248C>T, NC_000003.12:g.30946248= +PA166177120 rs9879065 PA162410152 ZNF385D NC_000003.12:21754288 1 1 0 0 0 NC_000003.11:g.21795780=, NC_000003.12:g.21754288=, NC_000003.11:g.21795780C>T, NC_000003.12:g.21754288C>T, rs9879065, 9879065, NC_000003.12:g.21754288C>G, NC_000003.11:g.21795780C>G, 59718550 +PA166156435 rs9882205 PA134933118 ADIPOQ NC_000003.12:186852609 1 0 0 0 0 NC_000003.12:g.186852609G>A, NG_021140.1:g.14936=, 9882205, rs9882205, NG_044949.1:g.12700G>A, XM_011513324.1:c.-8-442G>A, NR_046662.1:n.2720C>T, rs386421037, NC_000003.11:g.186570398G>A, NG_021140.1:g.14936G>A, 36219754, NG_044949.1:g.12700=, NM_004797.3:c.-8-442G>A, NC_000003.12:g.186852609=, 386421037, NC_000003.11:g.186570398=, rs36219754, NM_001177800.1:c.-8-442G>A +PA166165277 rs9883101 NC_000003.12:24002909 1 0 0 0 0 NC_000003.12:g.24002909C>A, NC_000003.12:g.24002909=, NC_000003.11:g.24044400=, rs9883101, 9883101, NC_000003.11:g.24044400C>G, NC_000003.12:g.24002909C>T, NC_000003.11:g.24044400C>T, NC_000003.12:g.24002909C>G, NC_000003.11:g.24044400C>A +PA166181766 rs9886152 PA162406335 TMEM196 NC_000007.14:19729117 1 0 0 0 0 9886152, NC_000007.14:g.19729117=, rs9886152, 52814670, 10247841, 17141858, 56648844, NC_000007.14:g.19729117C>T, NC_000007.13:g.19768740=, NC_000007.13:g.19768740C>T, 59267920 +PA166183293 rs988617574 PA126 CYP2C9 NC_000010.11:94972180 2 2 2 0 0 988617574, NG_008385.2:g.39023C>T, NG_008385.1:g.38523C>G, NC_000010.10:g.96731937=, NG_008385.1:g.38523C>A, NP_000762.2:p.Thr299Arg, NC_000010.10:g.96731937C>T, rs988617574, NG_008385.2:g.39023C>G, NP_000762.2:p.Thr299=, NC_000010.11:g.94972180=, NC_000010.11:g.94972180C>A, NG_008385.2:g.39023C>A, NC_000010.11:g.94972180C>G, NC_000010.10:g.96731937C>G, NG_008385.1:g.38523=, NG_008385.1:g.38523C>T, NC_000010.11:g.94972180C>T, NC_000010.10:g.96731937C>A, NP_000762.2:p.Thr299Lys, NG_008385.2:g.39023=, NP_000762.2:p.Thr299Ile +PA166154305 rs988748 PA31891 BDNF NC_000011.10:27703198 1 0 0 0 0 NM_001143806.1:c.-22+17231G>C, rs988748, NC_000011.10:g.27703198=, NM_170733.3:c.-1923G>C, NM_170731.4:c.3+18214G>C, NC_000011.9:g.27724745=, rs60852957, 988748, NM_170732.4:c.-22+17148G>C, NM_001143805.1:c.-22+17446G>C, NG_011794.1:g.23861G>C, NC_000011.9:g.27724745C>G, NG_011794.1:g.23861=, NM_001143807.1:c.-22+16313G>C, 60852957, NC_000011.10:g.27703198C>G +PA166160173 rs9892359 PA26874 CRHR1 NC_000017.11:45793325 1 0 0 0 0 117756988, NG_009902.1:g.14054=, 9892359, NG_009902.1:g.14054A>G, rs9892359, NC_000017.10:g.43870691A>G, NC_000017.11:g.45793325=, NC_000017.11:g.45793325A>G, NC_000017.10:g.43870691=, 115776403, 145920568 +PA166155237 rs9895420 PA376 ABCC3 NC_000017.11:50634677 4 1 0 0 0 XM_005257763.1:c.-260T>A, NC_000017.10:g.48712038=, NC_000017.11:g.50634677T>A, 59559322, XM_005257763.2:c.-260T>A, NC_000017.10:g.48712038T>A, NM_003786.3:c.-260T>A, NM_001144070.1:c.-260T>A, XR_934586.1:n.-167T>A, rs59559322, rs9895420, 9895420, XM_011525422.1:c.-260T>A, NC_000017.11:g.50634677=, XM_011525423.1:c.-260T>A +PA166223361 rs989692 PA30864 MME NC_000003.12:155083576 1 0 0 0 0 989692, NC_000003.11:g.154801365=, NG_051105.1:g.64453T>G, NC_000003.12:g.155083576=, NG_051105.1:g.64453T>A, NG_051105.1:g.64453T>C, NC_000003.12:g.155083576T>G, NC_000003.11:g.154801365T>A, 58663372, rs989692, NC_000003.11:g.154801365T>G, NG_051105.1:g.64453=, NC_000003.12:g.155083576T>C, NC_000003.11:g.154801365T>C, NC_000003.12:g.155083576T>A +PA166176950 rs9901673 PA26232 CD68 NC_000017.11:7580783 1 0 0 0 0 NC_000017.10:g.7484101C>G, NC_000017.11:g.7580783C>A, 60414741, NC_000017.10:g.7484101C>A, NP_001242.2:p.Gln254Glu, NG_009204.1:g.2137C>G, NG_009204.1:g.2137C>A, NC_000017.11:g.7580783C>T, NP_001242.2:p.Gln254=, rs9901673, 9901673, NC_000017.10:g.7484101=, NC_000017.10:g.7484101C>T, NG_009204.1:g.2137=, NP_001242.2:p.Gln254Ter, NC_000017.11:g.7580783=, NC_000017.11:g.7580783C>G, NG_009204.1:g.2137C>T, NP_001242.2:p.Gln254Lys +PA166176941 rs9901675 PA26232 CD68 NC_000017.11:7581494 1 1 0 0 0 NC_000017.11:g.7581494=, NG_009204.1:g.2848G>A, NP_001242.2:p.Ala350Thr, NC_000017.11:g.7581494G>A, rs9901675, 9901675, 59209601, NG_009204.1:g.2848=, NC_000017.10:g.7484812G>A, NP_001242.2:p.Ala350=, 17637556, 386625721, NC_000017.10:g.7484812= +PA166155238 rs9904341 PA25362 BIRC5 NC_000017.11:78214286 2 0 0 0 0 NC_000017.11:g.78214286G>C, 17884799, NC_000017.11:g.78214286G>A, 9904341, 11542072, NC_000017.10:g.76210367G>T, NM_001168.2:c.-31G>C, rs9904341, NC_000017.11:g.78214286G>T, 17551919, NC_000017.11:g.78214286=, XR_243654.1:n.7G>C, XR_243654.3:n.7G>C, NC_000017.10:g.76210367G>C, NC_000017.10:g.76210367=, NC_000017.10:g.76210367G>A, NG_029069.1:g.5091G>T, rs11542072, rs17551919, NM_001012271.1:c.-31G>C, NG_029069.1:g.5091G>C, NG_029069.1:g.5091=, rs56526409, NG_029069.1:g.5091G>A, XR_934452.1:n.7G>C, rs17884799, NM_001012270.1:c.-31G>C, 56526409 +PA166165381 rs9906827 PA165432629 RPTOR NC_000017.11:80691605 2 1 0 0 0 NC_000017.11:g.80691605C>T, 61229714, NG_013034.1:g.151781C>A, NG_013034.2:g.151781C>A, NC_000017.11:g.80691605=, NC_000017.10:g.78665405=, NC_000017.11:g.80691605C>A, 9906827, NG_013034.2:g.151781C>T, rs9906827, NG_013034.1:g.151781C>T, NG_013034.1:g.151781=, NC_000017.10:g.78665405C>T, NC_000017.10:g.78665405C>A, NG_013034.2:g.151781= +PA166155239 rs9908694 PA37750 IKZF3 NC_000017.11:39841519 1 0 0 0 0 NM_183232.2:c.8-9368G>A, NC_000017.11:g.39841519C>T, NM_183229.2:c.8-9368G>A, NM_001257411.1:c.8-9368G>A, NM_001257409.1:c.8-9368G>A, 61312250, NG_029104.2:g.27670=, NM_001257413.1:c.8-9368G>A, NG_029104.2:g.27670G>T, NR_047559.1:n.70-9368G>A, NM_001284515.1:c.-692-9368G>A, NM_183231.2:c.8-9368G>A, rs61312250, NM_001257414.1:c.8-9368G>A, NR_047560.1:n.70-9368G>A, NM_001284514.1:c.-860-9368G>A, NC_000017.10:g.37997772C>A, NM_012481.4:c.8-9368G>A, NG_029104.2:g.27670G>A, rs9908694, NC_000017.10:g.37997772=, 9908694, NM_183230.2:c.8-9368G>A, NM_183228.2:c.8-9368G>A, NM_001257410.1:c.8-9368G>A, NM_001257408.1:c.8-9368G>A, NC_000017.11:g.39841519C>A, NC_000017.11:g.39841519=, NC_000017.10:g.37997772C>T, NM_001257412.1:c.8-9368G>A +PA166204081 rs9909004 PA33759 PRKCA NC_000017.11:66310015 1 0 0 0 0 NC_000017.11:g.66310015C>T, NC_000017.10:g.64306133C>T, NG_012206.1:g.12208=, NG_012206.1:g.12208C>T, NC_000017.11:g.66310015=, rs9909004, 9909004, NC_000017.10:g.64306133= +PA166155242 rs9915451 PA142672624 ANKFN1 NC_000017.11:56355850 1 1 0 0 0 XM_006721728.2:c.397+1804A>G, XM_011524430.1:c.397+1804A>G, NC_000017.10:g.54433211A>G, NM_153228.2:c.610+1804A>G, XM_011524426.1:c.742+1804A>G, XM_011524429.1:c.592+1804A>G, XM_011524432.1:c.976+1804A>G, XM_005257094.1:c.670+1804A>G, XM_011524431.1:c.397+1804A>G, NC_000017.11:g.56355850=, 59452436, NC_000017.11:g.56355850A>G, rs9915451, XM_011524425.1:c.772+1804A>G, rs59452436, XM_011524428.1:c.610+1804A>G, XM_011524427.1:c.709+1804A>G, 9915451, NC_000017.10:g.54433211= +PA166154928 rs9920375 NC_000015.10:58190874 1 0 0 0 0 61659407, rs61659407, rs17240664, NC_000015.9:g.58483073T>C, NC_000015.10:g.58190874T>C, NC_000015.9:g.58483073T>A, 17240664, NC_000015.10:g.58190874T>A, rs9920375, 9920375, NC_000015.10:g.58190874=, NC_000015.9:g.58483073= +PA166185438 rs9921399 PA107 CES1 NC_000016.10:55832466 1 0 0 0 0 NC_000016.9:g.55866378T>C, NC_000016.10:g.55832466T>C, NC_000016.9:g.55866378=, NC_000016.10:g.55832466=, NG_012057.1:g.5698=, NG_012057.1:g.5698A>G, 9921399, rs9921399 +PA166156966 rs992160 PA26270 CDC5L NC_000006.12:44386904 1 1 0 0 0 NC_000006.11:g.44354641=, 992160, NC_000006.12:g.44386904=, NC_000006.12:g.44386904C>T, XR_926346.1:n.-788C>T, rs992160, NC_000006.11:g.44354641C>T, XM_005249506.1:c.-920C>T, XM_006715289.2:c.-920C>T, NM_001253.3:c.-920C>T +PA166155090 rs9922316 PA33761 PRKCB NC_000016.10:23898631 1 1 0 0 0 rs12919963, 58552219, 9922316, NC_000016.9:g.23909952T>A, NG_029003.2:g.67653T>G, rs58552219, NM_002738.6:c.205+61225T>G, NC_000016.9:g.23909952=, NG_029003.2:g.67653T>A, NC_000016.9:g.23909952T>G, NG_029003.1:g.67653=, 12919963, NC_000016.10:g.23898631T>A, rs9922316, NG_029003.2:g.67653=, NG_029003.1:g.67653T>G, NM_212535.2:c.205+61225T>G, NC_000016.10:g.23898631T>G, NC_000016.10:g.23898631=, NG_029003.1:g.67653T>A +PA166155091 rs9923231 PA134899581,PA165450635,PA133787052 BCKDK,PRSS53,VKORC1 NC_000016.10:31096368 257 9 6 6 2 NG_011564.1:g.3588G>T, NC_000016.10:g.31096368C>T, rs60511154, 117572127, NC_000016.9:g.31107689C>A, NC_000016.10:g.31096368C=, NC_000016.10:g.31096368=, NC_000016.9:g.31107689C>G, NM_024006.5:c.-1639G=, 9923231, NC_000016.9:g.31107689C>T, XR_950848.1:n.-31G=, rs117572127, NC_000016.10:g.31096368C>G, NM_001311311.1:c.-1639G=, NM_206824.2:c.-1639G=, XM_011545945.1:c.-1252G>A, 3673A/G on AY587020, NM_001311311.1:c.-1639G>A, XM_005255568.1:c.-1639G=, XM_011545944.1:c.-1252G>A, 17878363, NC_000016.9:g.31107689=, NG_011564.1:g.3588=, NM_024006.5:c.-1639G>A, XM_005255568.1:c.-1639G>A, NG_011564.1:g.3588G=, NC_000016.10:g.31096368C>A, XM_011545943.1:c.-1639G>A, rs17878363, rs9923231, 60511154, NC_000016.9:g.31107689C=, XM_011545945.1:c.-1252G=, NG_011564.1:g.3588G>C, NG_011564.1:g.3588G>A, XR_243303.1:n.-990G=, XM_011545943.1:c.-1639G=, NM_206824.2:c.-1639G>A, XR_243303.1:n.-990G>A, XM_011545944.1:c.-1252G=, XR_950848.1:n.-31G>A +PA166163326 rs9924771 PA35902 SLC5A2 NC_000016.10:31484256 1 0 0 0 0 NG_012892.1:g.6139=, NC_000016.10:g.31484256=, NC_000016.9:g.31495577=, NC_000016.10:g.31484256A>G, NG_012892.1:g.6139A>G, 12924582, NC_000016.9:g.31495577A>G, rs9924771, 9924771 +PA166283544 rs9927200 PA37398 WWOX NC_000016.10:78170090 1 1 0 0 0 NG_011698.1:g.75437A>G, NC_000016.10:g.78170090A>G, NC_000016.10:g.78170090=, 9927200, rs9927200, NC_000016.9:g.78203987A>T, NC_000016.10:g.78170090A>C, NG_011698.1:g.75437=, NG_011698.1:g.75437A>T, NC_000016.9:g.78203987A>C, NC_000016.10:g.78170090A>T, NG_011698.1:g.75437A>C, NC_000016.9:g.78203987A>G, NC_000016.9:g.78203987= +PA166155092 rs9930506 PA152208656 FTO NC_000016.10:53796553 1 0 0 0 0 XM_011523314.1:c.46-13587A>G, XM_011523315.1:c.46-13587A>G, NC_000016.9:g.53830465A>G, NG_012969.1:g.97591A>G, NC_000016.9:g.53830465=, NC_000016.10:g.53796553A>G, rs9930506, XM_011523316.1:c.46-13587A>G, NG_012969.1:g.97591=, 9930506, rs58569962, NC_000016.10:g.53796553=, NM_001080432.2:c.46-13587A>G, XM_011523313.1:c.46-13587A>G, 58569962 +PA166155093 rs9930761 PA108 CETP NC_000016.10:56973280 2 0 0 0 0 NC_000016.10:g.56973280T>C, rs56950713, NC_000016.10:g.56973280=, XM_005255776.1:c.750+1197T>C, XM_006721124.2:c.*1061T>C, NM_001286085.1:c.750+1197T>C, NC_000016.9:g.57007192=, NG_008952.1:g.16358=, NG_008952.1:g.16358T>C, NM_000078.2:c.751-51T>C, 56950713, rs9930761, NC_000016.9:g.57007192T>C, 9930761 +PA166176208 rs9933632 NC_000016.10:49906847 1 1 0 0 0 17284913, NC_000016.10:g.49906847G>T, NC_000016.9:g.49940758G>T, NC_000016.10:g.49906847=, NC_000016.9:g.49940758=, rs9933632, 9933632 +PA166155095 rs9933692 PA29473 HS3ST4 NC_000016.10:25946919 1 0 0 0 0 rs9933692, 9933692, NC_000016.10:g.25946919G>A, NC_000016.10:g.25946919=, NM_006040.2:c.735-188693G>A, NC_000016.9:g.25958240=, NC_000016.9:g.25958240G>A +PA166155096 rs9934438 PA165450635,PA133787052 PRSS53,VKORC1 NC_000016.10:31093557 108 6 2 1 0 NM_001311311.1:c.174-136C>T, XM_011545943.1:c.174-136C>T, 17641219, NC_000016.10:g.31093557G>A, NC_000016.10:g.31093557=, XR_950848.1:n.962-136C>T, NC_000016.10:g.31093557G>C, NG_011564.1:g.6399C>G, XM_011545944.1:c.174-136C>T, NC_000016.9:g.31104878G>A, NM_024006.5:c.174-136C>T, NC_000016.9:g.31104878=, NC_000016.9:g.31104878G>C, NG_011564.1:g.6399=, rs17641219, XR_243303.1:n.823-236C>T, 9934438, NM_206824.2:c.173+1000C>T, XM_005255568.1:c.174-136C>T, rs9934438, NG_011564.1:g.6399C>T, XM_011545945.1:c.173+1000C>T +PA166155611 rs993648 PA134984780 CERKL NC_000002.12:181591267 1 1 0 0 0 NC_000002.11:g.182455994C>T, NR_027689.1:n.582+12570G>A, NC_000002.11:g.182455994=, NM_001160277.1:c.481+12570G>A, NM_001030313.2:c.481+12570G>A, NR_027690.1:n.582+12570G>A, NG_021178.1:g.70841G>A, rs386626019, rs59615415, NM_201548.4:c.481+12570G>A, NG_021178.1:g.70841=, NC_000002.12:g.181591267C>T, 56548045, 59615415, NC_000002.12:g.181591267=, rs56548045, rs59648679, NG_021178.2:g.70841G>A, NM_001030312.2:c.481+12570G>A, NG_021178.2:g.70841=, 993648, rs993648, NM_001030311.2:c.481+12570G>A, 386626019, 59648679 +PA166155097 rs9936750 NC_000016.10:55137962 1 1 0 0 0 9936750, NC_000016.10:g.55137962=, rs61515867, 17210912, 61515867, NC_000016.9:g.55171874T>C, NC_000016.10:g.55137962T>C, NC_000016.9:g.55171874=, rs9936750, rs17210912 +PA166154265 rs9937 PA298 RRM1 NC_000011.10:4138227 8 1 0 0 0 XM_011520278.1:c.1557A>G, XM_005253059.1:c.1932A>G, XM_011520279.1:c.1209A>G, XM_005253058.1:c.1980A>G, rs17349998, XP_005253116.1:p.Thr644=, XP_005253115.1:p.Thr660=, 17349998, NC_000011.10:g.4138227A>G, NM_001318064.1:c.1932A>G, NP_001024.1:p.Thr741=, rs3177016, NM_001033.4:c.2223A>G, 17850106, 3177016, rs2228120, 2228120, NC_000011.9:g.4159457=, rs59628733, NG_027992.2:g.48534A>G, NM_001033.3:c.2223A>G, NC_000011.10:g.4138227=, NG_027992.2:g.48534A>T, XP_011518579.1:p.Thr644=, XP_011518581.1:p.Thr403=, NP_001304993.1:p.Thr644=, 59628733, 9937, XM_011520277.1:c.1932A>G, NC_000011.9:g.4159457A>T, NG_027992.2:g.48534=, rs17398272, NC_000011.9:g.4159457A>G, XP_011518580.1:p.Thr519=, rs9937, NM_001318065.1:c.1209A>G, rs1042857, 1042857, 17295553, 17398272, rs17850106, NC_000011.10:g.4138227A>T, rs17295553, NP_001304994.1:p.Thr403= +PA166210046 rs9937709 PA152208656 FTO NC_000016.10:53786901 1 1 0 0 0 NG_012969.1:g.87939A>G, 9937709, NC_000016.10:g.53786901A>G, NC_000016.9:g.53820813=, rs9937709, NC_000016.9:g.53820813A>G, NG_012969.1:g.87939=, NC_000016.10:g.53786901= +PA166155098 rs9939609 PA152208656 FTO NC_000016.10:53786615 2 1 0 0 0 NC_000016.10:g.53786615=, NG_012969.1:g.87653=, NC_000016.9:g.53820527T>A, 58374961, rs17817682, NM_001080432.2:c.46-23525T>A, XM_011523313.1:c.46-23525T>A, rs9939609, 9939609, XM_011523315.1:c.46-23525T>A, NG_012969.1:g.87653T>A, NC_000016.10:g.53786615T>A, 17817682, XM_011523316.1:c.46-23525T>A, NC_000016.9:g.53820527=, 61046791, rs61046791, rs58374961, XM_011523314.1:c.46-23525T>A +PA166155099 rs9940629 PA152208656 FTO NC_000016.10:53970899 1 1 0 0 0 XM_011523316.1:c.1394+36790A>G, NC_000016.10:g.53970899A>G, XM_011523313.1:c.1394+36790A>G, 59896549, 59591387, NG_012969.1:g.271937A>T, rs17823511, rs56428875, NG_012969.1:g.271937=, NC_000016.10:g.53970899=, NG_012969.1:g.271937A>G, NC_000016.10:g.53970899A>T, NC_000016.9:g.54004811=, rs59591387, rs59896549, NC_000016.9:g.54004811A>G, 56428875, 17823511, rs9940629, 9940629, NC_000016.9:g.54004811A>T, NM_001080432.2:c.1364+36790A>G +PA166177889 rs9943291 PA29338 HMGCS2 NC_000001.11:119749667 1 1 0 0 0 NC_000001.11:g.119749667=, NG_013348.1:g.24266A>C, rs9943291, 9943291, NC_000001.11:g.119749667T>G, NC_000001.10:g.120292290=, NC_000001.10:g.120292290T>G, NG_013348.1:g.24266= +PA166155315 rs9952628 PA165429121 SKOR2 NC_000018.10:47228280 1 0 0 0 0 NC_000018.9:g.44754651G>A, NM_001278063.1:c.2917+2179C>T, NC_000018.10:g.47228280G>A, 17785317, rs9952628, 9952628, rs17785317, 59209153, NC_000018.10:g.47228280=, NC_000018.9:g.44754651=, rs59209153, XM_006722525.2:c.2917+2179C>T +PA166250701 rs9958628 PA134915320 ARHGAP28 NC_000018.10:6739625 1 1 0 0 0 rs9958628, 9958628, NC_000018.9:g.6739624=, NC_000018.9:g.6739624A>T, NC_000018.10:g.6739625=, NC_000018.10:g.6739625A>T +PA166283762 rs9973653 PA27809 EPAS1 NC_000002.12:46320970 1 1 0 0 0 rs9973653, NC_000002.11:g.46548109G>T, NG_016000.1:g.28569G>T, NC_000002.11:g.46548109=, NC_000002.12:g.46320970=, NC_000002.12:g.46320970G>T, 9973653, 59816528, NG_016000.1:g.28569= +PA166156012 rs9977268 PA26711,PA327 COL18A1,SLC19A1 NC_000021.9:45487373 1 1 0 0 0 NG_011903.1:g.87191=, XM_005261179.1:c.2374-74C>T, NM_130445.3:c.1834-74C>T, NM_130445.2:c.1834-74C>T, XM_005261181.1:c.1834-74C>T, XM_005261180.1:c.2275-74C>T, NC_000021.8:g.46907287C>T, NG_011903.1:g.87191C>T, NM_130444.2:c.3079-74C>T, NM_030582.3:c.2374-74C>T, NC_000021.8:g.46907287=, NC_000021.9:g.45487373C>T, XM_005261178.1:c.2374-74C>T, rs9977268, XM_005261182.1:c.1810-74C>T, 9977268, NC_000021.9:g.45487373= +PA166198164 rs997917 PA31943 OPRK1 NC_000008.11:53239818 4 2 0 0 0 NC_000008.11:g.53239818=, NC_000008.10:g.54152378=, NC_000008.11:g.53239818T>C, 997917, rs997917, 59242043, NC_000008.10:g.54152378T>C +PA166156013 rs9981861 PA27491 DSCAM NC_000021.9:40043117 1 1 0 0 0 NM_001271534.1:c.5384-444A>G, NM_001389.3:c.5384-444A>G, XM_011529481.1:c.3020-444A>G, NC_000021.9:g.40043117T>C, NR_073202.1:n.5645-444A>G, 9981861, 57793011, rs9981861, NC_000021.8:g.41415044=, NC_000021.8:g.41415044T>C, rs57793011, NC_000021.9:g.40043117= +PA166155000 rs998424 PA310 SLC6A2 NC_000016.10:55698034 1 0 0 0 0 NM_001172502.1:c.1074+9G>A, XR_933403.1:n.2006+9G>A, NM_001172501.1:c.1389+9G>A, 13306044, XM_006721263.2:c.1389+9G>A, NM_001043.3:c.1389+9G>A, rs13306044, XM_011523297.1:c.1254+9G>A, 998424, NC_000016.10:g.55698034=, XM_011523298.1:c.*97G>A, XM_011523299.1:c.666+9G>A, rs998424, NC_000016.9:g.55731946G>A, NC_000016.9:g.55731946G>C, XM_011523296.1:c.1254+9G>A, NC_000016.10:g.55698034G>C, rs1800886, NC_000016.9:g.55731946=, 1800886, NG_016969.1:g.47405G>C, XM_011523300.1:c.666+9G>A, NG_016969.1:g.47405G>A, NM_001172504.1:c.1389+9G>A, NG_016969.1:g.47405=, NC_000016.10:g.55698034G>A, XM_011523295.1:c.1389+9G>A +PA166316481 rs999278 PA134865839 SLCO1B1 NC_000012.12:21180717 1 0 0 0 0 NC_000012.12:g.21180717C>A, NC_000012.12:g.21180717=, NG_011745.1:g.54524C>A, NC_000012.11:g.21333651=, 999278, 56748652, NC_000012.11:g.21333651C>A, NG_011745.1:g.54524=, rs999278, 17389996 +PA166156634 rs9993633 PA137 DCK NC_000004.12:70997893 2 0 0 0 0 NG_023303.1:g.9346G>A, NM_000788.2:c.92-174G>A, NC_000004.12:g.70997893G>A, NC_000004.11:g.71863610=, rs9993633, NC_000004.11:g.71863610G>A, NC_000004.12:g.70997893=, 9993633, NG_023303.1:g.9346= +PA166156635 rs9996584 PA24933 AREG NC_000004.12:74556244 2 1 0 0 0 9996584, NC_000004.11:g.75421961A>G, NC_000004.12:g.74556244A>G, rs9996584, NW_003571035.1:g.39752A>G, NC_000004.12:g.74556244=, NC_000004.12:g.74556244A>T, NC_000004.12:g.74556244A>C, NC_000004.11:g.75421961A>T, NC_000004.11:g.75421961A>C, NC_000004.11:g.75421961= +PA166170439 rs9999111 PA390 ABCG2 NC_000004.12:88152045 3 0 0 0 0 9999111, rs9999111, NG_032067.2:g.84278T>C, NC_000004.12:g.88152045=, NC_000004.12:g.88152045A>G, NC_000004.11:g.89073197A>G, NG_032067.2:g.84278T>G, 58278500, NC_000004.11:g.89073197=, NG_032067.2:g.84278=, NC_000004.12:g.88152045A>C, NC_000004.11:g.89073197A>C diff --git a/pixi.toml b/pixi.toml index 72b5063..9e87bb3 100644 --- a/pixi.toml +++ b/pixi.toml @@ -3,7 +3,6 @@ [project] authors = [ - "Aaron Fanous ", "Shlok Natarajan " ] channels = ["conda-forge"] @@ -14,8 +13,6 @@ version = "0.1.0" [tasks] download-variants = "python -m src.load_variants.load_clinical_variants" update-download-map = "python -c 'from src.fetch_articles.article_downloader import update_downloaded_pmcids; update_downloaded_pmcids()'" -download-articles = "python -m src.fetch_articles.article_downloader" -download-data = "gdown --fuzzy https://drive.google.com/file/d/1qtQWvi0x_k5_JofgrfsgkWzlIdb6isr9/view && unzip autogkb-data.zip && rm autogkb-data.zip" setup-repo = "pixi install && pixi run download-data" copy-markdown = "python -m src.copy_markdown" annotation-pipeline = "python -m src.annotation_pipeline" @@ -23,6 +20,8 @@ test-citations = "python -m src.citations.one_shot_citations" study-parameters = "python -m src.study_parameters" variant-ontology = "python -m src.ontology.variant_ontology" drug-ontology = "python -m src.ontology.drug_ontology" +setup-data = "python -m src.data_setup.main" +download-articles = "python -m src.data_setup.article_markdown_downloader" [dependencies] seaborn = ">=0.13.2,<0.14" diff --git a/src/data_setup/README.md b/src/data_setup/README.md new file mode 100644 index 0000000..eff7096 --- /dev/null +++ b/src/data_setup/README.md @@ -0,0 +1,11 @@ +# Data Setup +This should setup all the files coming from ClinPGx / PubMed. All steps triggered via +`pixi run setup-data` or `python -m src.data_setup.main` + +## Term Lookup Download Links +https://api.clinpgx.org/v1/download/file/data/genes.zip +https://api.clinpgx.org/v1/download/file/data/variants.zip +https://api.clinpgx.org/v1/download/file/data/phenotypes.zip +https://api.clinpgx.org/v1/download/file/data/drugs.zip +https://api.clinpgx.org/v1/download/file/data/variantAnnotations.zip +https://api.clinpgx.org/v1/download/file/data/chemicals.zip \ No newline at end of file diff --git a/src/data_setup/__init__.py b/src/data_setup/__init__.py new file mode 100644 index 0000000..08afc8e --- /dev/null +++ b/src/data_setup/__init__.py @@ -0,0 +1 @@ +from .clingpx_download import download_variant_annotations diff --git a/src/data_setup/article_markdown_downloader.py b/src/data_setup/article_markdown_downloader.py new file mode 100644 index 0000000..ab61f37 --- /dev/null +++ b/src/data_setup/article_markdown_downloader.py @@ -0,0 +1,145 @@ +from __future__ import annotations + +import sys +import zipfile +from pathlib import Path +import shutil + +import gdown + +GOOGLE_DRIVE_URL = ( + "https://drive.google.com/file/d/1jD3okYclzYmZqLLiY7kBO0erhKm6bWBl/view" +) + + +def download_markdown_zip(data_dir: Path, force_download: bool) -> Path: + articles_dir = data_dir / "articles" + # Ensure destination directory exists before download + articles_dir.mkdir(parents=True, exist_ok=True) + zip_path = articles_dir / "markdown.zip" + + if zip_path.exists() and not force_download: + print( + f"Zip already exists at {zip_path}. Skipping download (use --force-download to re-fetch)." + ) + return zip_path + + print(f"Downloading markdown zip to: {zip_path}") + gdown.download(url=GOOGLE_DRIVE_URL, output=str(zip_path), fuzzy=True, quiet=False) + + if not zip_path.exists() or zip_path.stat().st_size == 0: + raise RuntimeError(f"Download failed or produced an empty file: {zip_path}") + + return zip_path + + +def _safe_join(base: Path, *paths: str) -> Path: + # Prevent path traversal during extraction + dest = base.joinpath(*paths).resolve() + if not str(dest).startswith(str(base.resolve())): + raise RuntimeError(f"Unsafe path detected during extraction: {dest}") + return dest + + +def unzip_markdown(zip_path: Path, articles_dir: Path, mode: str) -> None: + if mode == "clean": + # Remove everything inside articles_dir (but keep the dir itself) + print(f"Cleaning directory: {articles_dir}") + for p in articles_dir.iterdir(): + # It's fine if we also remove a pre-existing zip before extraction + if p.is_file() or p.is_symlink(): + p.unlink(missing_ok=True) + else: + shutil.rmtree(p, ignore_errors=True) + + print(f"Unzipping {zip_path} into {articles_dir} with mode={mode}") + with zipfile.ZipFile(zip_path, "r") as zf: + for member in zf.infolist(): + # Skip macOS metadata entries + if member.filename.startswith("__MACOSX/"): + continue + + # Normalize path and strip a top-level 'markdown/' directory if present + rel_parts = Path(member.filename).parts + if rel_parts and rel_parts[0] == "markdown": + rel_parts = rel_parts[1:] + + # If nothing remains (e.g., the entry was just 'markdown/'), skip + if not rel_parts: + continue + + rel_path = Path(*rel_parts) + + # Handle directories and files + if member.is_dir(): + target_dir = _safe_join(articles_dir, str(rel_path)) + target_dir.mkdir(parents=True, exist_ok=True) + continue + + target_path = _safe_join(articles_dir, str(rel_path)) + target_path.parent.mkdir(parents=True, exist_ok=True) + + if mode == "skip-existing" and target_path.exists(): + # Do not overwrite existing files + continue + + # Extract member + with zf.open(member, "r") as src, open(target_path, "wb") as dst: + shutil.copyfileobj(src, dst) + + +def remove_zip(zip_path: Path) -> None: + if zip_path and zip_path.exists(): + print(f"Removing {zip_path}") + try: + zip_path.unlink() + except Exception as e: + print(f"Warning: could not remove zip {zip_path}: {e}", file=sys.stderr) + + +def download_articles( + data_dir: Path | str = Path("data"), + *, + mode: str = "overwrite", + force_download: bool = False, +) -> None: + """Download article markdowns zip to data_dir/articles, unzip, and cleanup. + + Args: + data_dir: Base data directory (contains the `articles/` subdirectory). + mode: One of {"overwrite", "skip-existing", "clean"} controlling extraction behavior. + force_download: If True, always re-download the zip even if it exists. + """ + if isinstance(data_dir, str): + data_dir = Path(data_dir) + + zip_path = None + try: + zip_path = download_markdown_zip(data_dir, force_download=force_download) + # Extract into the articles directory (not the base data dir) + articles_dir = data_dir / "articles" + unzip_markdown(zip_path, articles_dir, mode=mode) + # Remove macosx directory + macosx_dir = articles_dir / "__MACOSX" + if macosx_dir.exists(): + shutil.rmtree(macosx_dir) + except Exception as e: + print(f"Error while downloading/unzipping: {e}", file=sys.stderr) + # Best effort cleanup of a potentially corrupt zip + potential_zip = data_dir / "articles" / "markdown.zip" + if potential_zip.exists(): + try: + potential_zip.unlink() + except Exception: + pass + raise + finally: + # Remove the zip regardless of success/failure of extraction + remove_zip(zip_path) + + print("Markdown download and extraction complete.") + + +if __name__ == "__main__": + data_dir = Path("data") + download_articles(data_dir) diff --git a/src/data_setup/clingpx_download.py b/src/data_setup/clingpx_download.py new file mode 100644 index 0000000..0a1500c --- /dev/null +++ b/src/data_setup/clingpx_download.py @@ -0,0 +1,85 @@ +import requests +import zipfile +import os +from pathlib import Path +import time + + +def download_variant_annotations(base_dir=Path("data"), override=False) -> Path: + """ + Download a zip file from a URL and extract its contents. + + Args: + base_dir: Base directory where files will be downloaded and extracted (default: current directory) + override: If True, download and extract even if files already exist (default: False) + """ + url = "https://api.clinpgx.org/v1/download/file/data/variantAnnotations.zip" + + # Create paths + download_path = Path(base_dir) / "variantAnnotations.zip" + extract_to = Path(base_dir) / "variantAnnotations" + + # Check if files already exist + if extract_to.exists() and extract_to.is_dir() and not override: + print(f"Files already exist in {extract_to}. Skipping download.") + print(f"Use override=True to re-download.") + return Path(extract_to) + + # Create directories if they don't exist + base_dir.mkdir(parents=True, exist_ok=True) + extract_to.mkdir(parents=True, exist_ok=True) + + print(f"Downloading file from {url}...") + + # Download the file + for attempt in range(5): # Retry up to 5 times + response = requests.get(url, stream=True) + if response.status_code == 503: + print("Service unavailable (503). Retrying in 5 seconds...") + time.sleep(5) # Wait for 5 seconds before retrying + else: + response.raise_for_status() # Raise an error for other bad status codes + break # Exit loop if the request was successful + + # Save the downloaded file + with open(download_path, "wb") as f: + for chunk in response.iter_content(chunk_size=8192): + f.write(chunk) + + print(f"Download complete! File saved as {download_path}") + print(f"File size: {os.path.getsize(download_path) / (1024*1024):.2f} MB") + + # Unzip the file + print(f"\nExtracting files to {extract_to}...") + with zipfile.ZipFile(download_path, "r") as zip_ref: + zip_ref.extractall(extract_to) + + # List extracted files + extracted_files = list(os.listdir(extract_to)) + print(f"\nExtraction complete! {len(extracted_files)} file(s) extracted:") + for file in extracted_files: + file_path = os.path.join(extract_to, file) + if os.path.isfile(file_path): + size = os.path.getsize(file_path) / (1024 * 1024) + print(f" - {file} ({size:.2f} MB)") + else: + print(f" - {file} (directory)") + + # Remove the zip file after extraction + os.remove(download_path) + print(f"\nRemoved {download_path}") + + return extract_to + + +if __name__ == "__main__": + + try: + download_variant_annotations() + print("\nSuccess!") + except requests.exceptions.RequestException as e: + print(f"Error downloading file: {e}") + except zipfile.BadZipFile: + print("Error: The downloaded file is not a valid zip file") + except Exception as e: + print(f"An error occurred: {e}") diff --git a/src/data_setup/main.py b/src/data_setup/main.py new file mode 100644 index 0000000..e27fbb8 --- /dev/null +++ b/src/data_setup/main.py @@ -0,0 +1,296 @@ +""" +1. Download the latest data from ClinPGx (void) --> filepath +2. Filter out for the PMCIDs that are of interest for the benchmark (filepath) --> +3. Save the data to a jsonl file +""" + +from pathlib import Path +from typing import Set + +from .clingpx_download import download_variant_annotations +from .pmcid_converter import PMIDConverter +from .article_markdown_downloader import download_articles +from .pmc_title_fetcher import get_title_from_pmcid +from .term_lookup_data import prepare_term_lookup_data +import json +import math +import pandas as pd +import numpy as np + + +def get_all_pmids(data_dir: Path, output_dir: Path | None = None) -> Path: + """ + Get all the PMCIDs from the data and save to a txt file all_pmids.txt + Searches {data_dir}/variantAnnotations/.tsv for PMIDs + output_dir should be the same as data_dir in most cases + """ + pmids = set() + annotation_dir = data_dir / "variantAnnotations" + if output_dir is None: + output_dir = data_dir + + # Files that have PMID column directly + files_with_pmid = ["var_drug_ann.tsv", "var_pheno_ann.tsv", "var_fa_ann.tsv"] + + for file in files_with_pmid: + df = pd.read_csv( + annotation_dir / file, + sep="\t", + usecols=["PMID"], # Only load the PMID column + low_memory=False, + ) + pmids.update( + df["PMID"].dropna().astype(str) + ) # Add to set, drop NaN values, convert to string + + # save to a txt file + output_file_path = output_dir / "all_pmids.txt" + with open(output_file_path, "w") as f: + for pmid in pmids: + f.write(pmid + "\n") + print(f"Extracted {len(pmids)} PMIDs to {output_file_path}") + return output_file_path + + +def convert_pmids_to_pmcids( + pmids: Path, output_dir: Path | None = None, override: bool = False +) -> Path: + """ + Convert PMIDs to PMCIDs and save to a mapping file. + + Returns the actual JSON file path created by the converter + (e.g., `/pmcid_mapping.json`). + """ + + pmcid_converter = PMIDConverter() + # Pass the directory; converter will write `/pmcid_mapping.json` + if output_dir is None: + output_dir = pmids.parent + output_file_path = pmcid_converter.convert_from_file( + pmids, output_dir, override=override + ) + return output_file_path + + +def _normalize_pmid_series(series: pd.Series) -> pd.Series: + """Return a string PMID series with only digit characters; invalid entries set to NA.""" + # Cast to string, extract contiguous digits, drop empty matches + s = series.astype(str) + s = s.replace({"nan": np.nan, "None": np.nan}) + s = s.str.extract(r"(\d+)", expand=False) + return s + + +def _normalize_id_series(series: pd.Series) -> pd.Series: + """Return an ID series as strings; NaNs preserved as NA.""" + s = series.astype(str) + s = s.replace({"nan": np.nan, "None": np.nan}) + s = s.str.strip() + s = s.where(s.ne("")) + return s + + +def _clean_nans(obj): + """Recursively replace NaN/Inf/pandas NA with None in nested structures.""" + # Handle dict + if isinstance(obj, dict): + return {k: _clean_nans(v) for k, v in obj.items()} + # Handle list/tuple + if isinstance(obj, (list, tuple)): + return [_clean_nans(v) for v in obj] + # Preserve None + if obj is None: + return None + # Handle pandas NA / numpy NaN / inf + try: + # pandas.isna handles numpy/pandas dtypes + if pd.isna(obj): + return None + except Exception: + pass + # Also explicitly guard float nan/inf + if isinstance(obj, float): + if math.isnan(obj) or math.isinf(obj): + return None + return obj + + +def create_pmcid_groupings( + data_dir: Path, pmcid_mapping: Path | None = None, output_dir: Path | None = None +) -> Path: + """ + Create the pmcid groupings from the annotations + """ + # Load the PMID to PMCID mapping + if pmcid_mapping is None: + pmcid_mapping = data_dir / "pmcid_mapping.json" + with open(pmcid_mapping, "r") as f: + pmid_to_pmcid = json.load(f) + + annotation_dir = data_dir / "variantAnnotations" + + # Load all the dataframes + study_params = pd.read_csv( + annotation_dir / "study_parameters.tsv", sep="\t", low_memory=False + ) + var_drug_ann = pd.read_csv( + annotation_dir / "var_drug_ann.tsv", sep="\t", low_memory=False + ) + var_pheno_ann = pd.read_csv( + annotation_dir / "var_pheno_ann.tsv", sep="\t", low_memory=False + ) + var_fa_ann = pd.read_csv( + annotation_dir / "var_fa_ann.tsv", sep="\t", low_memory=False + ) + + # Normalize PMIDs to a comparable string column (digits only) + for df in (var_drug_ann, var_pheno_ann, var_fa_ann): + if "PMID" in df.columns: + df["PMID_norm"] = _normalize_pmid_series(df["PMID"]) # may be NA + else: + df["PMID_norm"] = np.nan + + # Normalize Variant Annotation IDs for joining + if "Variant Annotation ID" in study_params.columns: + study_params["Variant Annotation ID_norm"] = _normalize_id_series( + study_params["Variant Annotation ID"] + ) + else: + study_params["Variant Annotation ID_norm"] = np.nan + + # Group annotations by PMCID + annotations_by_pmcid: dict[str, dict] = {} + + # Get unique PMIDs from variant annotations + all_pmids: Set[str] = set() + for df in (var_drug_ann, var_pheno_ann, var_fa_ann): + if "PMID_norm" in df.columns: + pmids = df["PMID_norm"].dropna().astype(str).unique().tolist() + all_pmids.update(pmids) + + for pmid_str in all_pmids: + pmcid = pmid_to_pmcid.get(pmid_str) + + if not pmcid: + continue + + # Get variant annotations for this PMID + drug_anns = var_drug_ann[var_drug_ann["PMID_norm"] == pmid_str].copy() + pheno_anns = var_pheno_ann[var_pheno_ann["PMID_norm"] == pmid_str].copy() + fa_anns = var_fa_ann[var_fa_ann["PMID_norm"] == pmid_str].copy() + + # Get study parameters by joining on Variant Annotation ID + variant_annotation_ids: Set[str] = set() + for df in (drug_anns, pheno_anns, fa_anns): + if "Variant Annotation ID" in df.columns: + df["Variant Annotation ID_norm"] = _normalize_id_series( + df["Variant Annotation ID"] + ) + variant_annotation_ids.update( + df["Variant Annotation ID_norm"].dropna().astype(str) + ) + + study_params_for_pmid = study_params[ + study_params["Variant Annotation ID_norm"].isin( + list(variant_annotation_ids) + ) + ].copy() + + # Fetch study title directly from PMC using E-utilities + title = None + try: + title = get_title_from_pmcid(pmcid, data_dir) + except Exception: + # Title is optional; skip on failures + title = None + + # Create entry for this PMCID + entry = { + "pmid": pmid_str, + "title": title, + "study_parameters": study_params_for_pmid.to_dict("records"), + "var_drug_ann": drug_anns.to_dict("records"), + "var_pheno_ann": pheno_anns.to_dict("records"), + "var_fa_ann": fa_anns.to_dict("records"), + } + + annotations_by_pmcid[pmcid] = entry + + # Save to JSON file + output_file = output_dir / "annotations_by_pmcid.json" + # Deep-clean any remaining NaN/Inf just before serialization + cleaned = _clean_nans(annotations_by_pmcid) + with open(output_file, "w") as f: + json.dump(cleaned, f, indent=2, allow_nan=False) + + print(f"Created {len(annotations_by_pmcid)} PMCID groupings in {output_file}") + return output_file + + +def create_benchmark_groupings( + annotations_by_pmcid_path: Path, output_dir: Path +) -> Path: + """ + Create the benchmark groupings from the annotations + """ + # Load benchmark PMCIDs + benchmark_pmcids_path = Path("persistent_data/benchmark_pmcids.txt") + if not benchmark_pmcids_path.exists(): + raise FileNotFoundError( + f"Benchmark PMCIDs file not found at {benchmark_pmcids_path}" + ) + benchmark_pmcids = set() + with open(benchmark_pmcids_path, "r") as f: + for line in f: + benchmark_pmcids.add(line.strip()) + print(f"Found {len(benchmark_pmcids)} benchmark PMCIDs") + + # Load all annotations + annotations_by_pmcid = json.load(open(annotations_by_pmcid_path, "r")) + + # Filter annotations by benchmark PMCIDs + annotation_pmcids = set(annotations_by_pmcid.keys()) + found_pmcids = benchmark_pmcids.intersection(annotation_pmcids) + benchmark_annotations = { + pmcid: annotations_by_pmcid[pmcid] for pmcid in found_pmcids + } + missing_pmcids = list(benchmark_pmcids - found_pmcids) + print(f"Found {len(benchmark_annotations)} benchmark PMCIDs") + print(f"Missing {len(missing_pmcids)} benchmark PMCIDs:") + if len(missing_pmcids) > 0: + # Print all missing PMCIDs + for pmcid in missing_pmcids: + print(pmcid) + + # Save to JSON file + output_file = output_dir / "benchmark_annotations.json" + with open(output_file, "w") as f: + json.dump(benchmark_annotations, f, indent=2, allow_nan=False) + + print(f"Created {len(benchmark_annotations)} benchmark PMCIDs in {output_file}") + return output_file + + +def clean_directory(data_dir: Path): + # Remove __MACOSX and extraneous directories + for path in data_dir.iterdir(): + if path.is_dir() and path.name == "__MACOSX": + shutil.rmtree(path) + + +if __name__ == "__main__": + data_dir = Path("data") + # Always refresh PharmGKB lookup tables used by ontology search + # These are written under `data/term_lookup_info/` to match search defaults + prepare_term_lookup_data(data_dir) + # Ensure article markdowns are available under `data/articles/` + download_articles(data_dir=data_dir, mode="overwrite", force_download=False) + download_variant_annotations( + data_dir, override=True + ) # downloads to data_dir/variantAnnotations + output_dir = data_dir + pmids_path = get_all_pmids(data_dir, output_dir) # gets pmids from + pmcids_path = convert_pmids_to_pmcids(pmids_path, output_dir, override=False) + pmcid_groupings_path = create_pmcid_groupings(data_dir, pmcids_path, output_dir) + create_benchmark_groupings(pmcid_groupings_path, output_dir) + clean_directory(data_dir) diff --git a/src/data_setup/pmc_title_fetcher.py b/src/data_setup/pmc_title_fetcher.py new file mode 100644 index 0000000..2d2e147 --- /dev/null +++ b/src/data_setup/pmc_title_fetcher.py @@ -0,0 +1,32 @@ +from typing import Optional +from pathlib import Path + +""" +Get the title of an article from the markdown file +This relies on the markdown files downloaded by the article_markdown_downloader +""" + + +def get_title_from_markdown( + markdown_path: Path, +) -> Optional[str]: + with open(markdown_path, "r") as f: + content = f.read() + # Read the first heading of the markdown file + return content.split("\n")[0].split("# ")[1] + + +def construct_markdown_path_from_pmcid(pmcid: str, data_dir: Path) -> Path: + return data_dir / "articles" / f"{pmcid}.md" + + +def get_title_from_pmcid(pmcid: str, data_dir: Path) -> Optional[str]: + markdown_path = construct_markdown_path_from_pmcid(pmcid, data_dir) + return get_title_from_markdown(markdown_path) + + +if __name__ == "__main__": + pmcid = "PMC12146598" + data_dir = Path("data") + title = get_title_from_pmcid(pmcid, data_dir) + print(title) diff --git a/src/data_setup/pmcid_converter.py b/src/data_setup/pmcid_converter.py new file mode 100644 index 0000000..8b99f9a --- /dev/null +++ b/src/data_setup/pmcid_converter.py @@ -0,0 +1,368 @@ +import requests +import time +import json +from pathlib import Path +from typing import List, Dict, Optional, Set +from concurrent.futures import ThreadPoolExecutor, as_completed +from dotenv import load_dotenv +import os + +load_dotenv() + + +class PMIDConverter: + """Efficient batch converter for PMIDs to PMCIDs using NCBI ID Converter API""" + + BASE_URL = "https://www.ncbi.nlm.nih.gov/pmc/utils/idconv/v1.0/" + BATCH_SIZE = 200 # API maximum + RATE_LIMIT_DELAY = 0.34 # ~3 requests per second to be safe + + def __init__(self, email: Optional[str] = None, tool: str = "pmid_converter"): + """ + Initialize converter + + Args: + email: Your email (recommended by NCBI for tracking) + tool: Tool name for API tracking + """ + self.email = email + self.tool = tool + self.session = requests.Session() + + def _build_params(self, pmids: List[str], format: str = "json") -> Dict: + """Build API request parameters""" + params = { + "ids": ",".join(str(p) for p in pmids), + "format": format, + "tool": self.tool, + } + if self.email: + params["email"] = self.email + return params + + def _parse_response(self, data: Dict) -> Dict[str, str]: + """Parse API response and extract PMID -> PMCID mappings""" + mapping = {} + + if "records" in data: + for record in data["records"]: + pmid = record.get("pmid") + pmcid = record.get("pmcid") + + # Normalize to strings to avoid type mismatches (e.g., int vs str) + if pmid is not None: + pmid = str(pmid).strip() + if pmcid is not None: + pmcid = str(pmcid).strip() + + if pmid and pmcid: + mapping[pmid] = pmcid + + return mapping + + def _convert_batch(self, pmids: List[str]) -> tuple[Dict[str, str], Set[str]]: + """ + Convert a single batch of PMIDs to PMCIDs (internal method) + + Args: + pmids: List of PMIDs (max 200) + + Returns: + Tuple of (Dictionary mapping PMID -> PMCID, Set of PMIDs not found) + """ + if len(pmids) > self.BATCH_SIZE: + raise ValueError(f"Batch size exceeds maximum of {self.BATCH_SIZE}") + + params = self._build_params(pmids) + + try: + response = self.session.get(self.BASE_URL, params=params, timeout=30) + response.raise_for_status() + data = response.json() + mappings = self._parse_response(data) + + # Identify PMIDs that were not found (normalize everything to string) + batch_ids = set(str(p).strip() for p in pmids) + found_ids = set(str(k).strip() for k in mappings.keys()) + not_found = batch_ids - found_ids + return mappings, not_found + + except requests.exceptions.RequestException as e: + print(f"Error converting batch: {e}") + return {}, set() + + def convert(self, pmids: List[str], show_progress: bool = True) -> Dict[str, str]: + """ + Convert a list of PMIDs to PMCIDs (in-memory only) + + Args: + pmids: List of PMIDs to convert + show_progress: Whether to print progress updates + + Returns: + Dictionary mapping PMID -> PMCID for all successfully converted IDs + """ + # Remove duplicates while preserving order + unique_pmids = list(dict.fromkeys(str(p) for p in pmids)) + + # Split into batches + batches = [ + unique_pmids[i : i + self.BATCH_SIZE] + for i in range(0, len(unique_pmids), self.BATCH_SIZE) + ] + + all_mappings = {} + total_batches = len(batches) + + if show_progress: + print(f"Converting {len(unique_pmids)} PMIDs in {total_batches} batches...") + + for idx, batch in enumerate(batches, 1): + mappings, not_found = self._convert_batch(batch) + all_mappings.update(mappings) + + if show_progress: + converted = len(mappings) + print(f"Batch {idx}/{total_batches}") + + # Rate limiting (except for last batch) + if idx < total_batches: + time.sleep(self.RATE_LIMIT_DELAY) + + if show_progress: + success_rate = ( + len(all_mappings) / len(unique_pmids) * 100 if unique_pmids else 0 + ) + print( + f"\nTotal: {len(all_mappings)}/{len(unique_pmids)} converted ({success_rate:.1f}%)" + ) + + return all_mappings + + def convert_from_file( + self, + input_file_path: Path, + output_path: Path, + override: bool = False, + show_progress: bool = True, + ) -> Path: + """ + Convert PMIDs from an input file and save to output JSON file + + Args: + input_file: Path to file containing PMIDs (one per line, or JSON list) + output_file: Path to output JSON file for mappings + override: If False, skip already converted PMIDs (including those not found) + show_progress: Whether to print progress updates + + Returns: + Dictionary mapping PMID -> PMCID for all IDs (not found PMIDs map to None) + """ + output_file_path = output_path / "pmcid_mapping.json" + + # Read PMIDs from input file + if show_progress: + print(f"Reading PMIDs from {input_file_path}...") + + pmids = self._read_pmids_from_file(input_file_path) + + if show_progress: + print(f"Found {len(pmids)} PMIDs in input file") + + # Load existing mappings if file exists and not overriding + existing_mappings = {} + if not override and output_file_path.exists(): + try: + with open(output_file_path, "r") as f: + existing_mappings = json.load(f) + if show_progress: + print( + f"Loaded {len(existing_mappings)} existing mappings from {output_file_path}" + ) + except (json.JSONDecodeError, IOError) as e: + print(f"Warning: Could not load existing file: {e}") + + # Remove duplicates and filter out already converted PMIDs (including those marked as not found) + unique_pmids = list(dict.fromkeys(str(p) for p in pmids)) + + if not override and existing_mappings: + pmids_to_convert = [p for p in unique_pmids if p not in existing_mappings] + skipped = len(unique_pmids) - len(pmids_to_convert) + if show_progress and skipped > 0: + print(f"Skipping {skipped} already processed PMIDs") + else: + pmids_to_convert = unique_pmids + + # If nothing to convert, ensure we still return the output file path + if not pmids_to_convert: + if show_progress: + print("All PMIDs already processed!") + # Ensure the expected output file exists and return its path + # If it already existed, we keep it; otherwise, create from existing_mappings + if not output_file_path.exists(): + self._save_mappings(existing_mappings, output_file_path) + return output_file_path + + # Split into batches + batches = [ + pmids_to_convert[i : i + self.BATCH_SIZE] + for i in range(0, len(pmids_to_convert), self.BATCH_SIZE) + ] + + all_mappings = existing_mappings.copy() + total_batches = len(batches) + total_converted = 0 + total_not_found = 0 + + if show_progress: + print( + f"Converting {len(pmids_to_convert)} new PMIDs in {total_batches} batches..." + ) + + for idx, batch in enumerate(batches, 1): + mappings, not_found = self._convert_batch(batch) + all_mappings.update(mappings) + + # Store not found PMIDs with None value + for pmid in not_found: + all_mappings[pmid] = None + + total_converted += len(mappings) + total_not_found += len(not_found) + + # Save incrementally after each batch + self._save_mappings(all_mappings, output_file_path) + + if show_progress: + print( + f"Batch {idx}/{total_batches}: {total_converted} converted, {total_not_found} not found" + ) + + # Rate limiting (except for last batch) + if idx < total_batches: + time.sleep(self.RATE_LIMIT_DELAY) + + if show_progress: + new_conversions = total_converted + new_not_found = total_not_found + print(f"\nNew conversions: {new_conversions}/{len(pmids_to_convert)}") + print(f"Not found: {new_not_found}/{len(pmids_to_convert)}") + print(f"Total mappings: {len(all_mappings)}") + print(f"Results saved to {output_file_path}") + + return output_file_path + + def _read_pmids_from_file(self, input_file: Path) -> List[str]: + """ + Read PMIDs from a file (supports text file with one PMID per line, or JSON list) + + Args: + input_file: Path to input file + + Returns: + List of PMID strings + """ + input_file = Path(input_file) + + if not input_file.exists(): + raise FileNotFoundError(f"Input file not found: {input_file}") + + # Try to read as JSON first + try: + with open(input_file, "r") as f: + data = json.load(f) + if isinstance(data, list): + return [str(p).strip() for p in data if str(p).strip()] + except json.JSONDecodeError: + pass + + # Read as text file (one PMID per line) + with open(input_file, "r") as f: + pmids = [line.strip() for line in f if line.strip()] + + return pmids + + def _save_mappings(self, mappings: Dict[str, str], output_file: Path) -> None: + """ + Save PMID -> PMCID mappings to a JSON file (internal method) + + Args: + mappings: Dictionary of PMID -> PMCID mappings + output_file: Path object for output JSON file + """ + output_file = Path(output_file) + output_file.parent.mkdir(parents=True, exist_ok=True) + + with open(output_file, "w") as f: + json.dump(mappings, f, indent=2) + + def load_mappings(self, input_file: Path) -> Dict[str, str]: + """ + Load PMID -> PMCID mappings from a JSON file + + Args: + input_file: Path object for input JSON file + + Returns: + Dictionary of PMID -> PMCID mappings + """ + input_file = Path(input_file) + + if not input_file.exists(): + raise FileNotFoundError(f"File not found: {input_file}") + + with open(input_file, "r") as f: + return json.load(f) + + +# Example usage +if __name__ == "__main__": + # Initialize converter (add your email for NCBI tracking) + converter = PMIDConverter(email="your.email@example.com") + + # Example PMIDs + pmids = [ + "32948745", + "33495752", + "33495753", + "33495754", + "33495755", + "20210808", + "19008416", + "18771397", + ] + + print("=== Method 1: convert() - In-memory list conversion ===") + # Simple in-memory conversion + results = converter.convert(pmids) + print(f"\nSample results:") + for pmid, pmcid in list(results.items())[:3]: + print(f"PMID {pmid} -> {pmcid}") + + print("\n=== Method 2: convert_from_file() - File-based conversion ===") + + # Create example input file + input_path = Path("pmids_input.txt") + with open(input_path, "w") as f: + for pmid in pmids * 10: # Simulate 80 PMIDs + f.write(f"{pmid}\n") + + # First run - converts all PMIDs and saves to file + output_path = Path("pmid_mappings.json") + all_results = converter.convert_from_file(input_path, output_path) + + # Second run - add more PMIDs to input file, only converts new ones + print("\n=== Adding more PMIDs (incremental update) ===") + with open(input_path, "a") as f: + f.write("35000000\n35000001\n") + + all_results = converter.convert_from_file(input_path, output_path, override=False) + + # Third run - force re-conversion with override=True + print("\n=== Force override (re-converts everything) ===") + # all_results = converter.convert_from_file(input_path, output_path, override=True) + + # Load existing mappings + print("\n=== Loading saved mappings ===") + loaded = converter.load_mappings(output_path) + print(f"Loaded {len(loaded)} mappings from file") diff --git a/src/data_setup/term_lookup_data.py b/src/data_setup/term_lookup_data.py new file mode 100644 index 0000000..feef474 --- /dev/null +++ b/src/data_setup/term_lookup_data.py @@ -0,0 +1,273 @@ +""" +Term Lookup Data Preparation +---------------------------- + +Always download the latest drug and variant term tables from PharmGKB's public +API and materialize lightweight TSVs under `/term_lookup_info/` for +use by the ontology search utilities. + +Generated files: +- `/term_lookup_info/drugs.tsv` with columns: + - Name, PharmGKB Accession Id, Generic Names, Trade Names, RxNorm Identifiers +- `/term_lookup_info/variants.tsv` with columns: + - Variant Name, Variant ID, Synonyms + +Notes: +- This function overwrites existing TSVs on each run to ensure fresh data. +- Network access is required; if the PharmGKB API is unavailable, a + RuntimeError is raised. +""" + +from __future__ import annotations + +from pathlib import Path +from typing import Iterable, List, Dict, Any +import requests +import pandas as pd +import shutil + + +# ClinPGx data sources (see `src/data_setup/README.MD`) +CLINPGX_DRUGS_ZIP_URL = "https://api.clinpgx.org/v1/download/file/data/drugs.zip" +CLINPGX_VARIANTS_ZIP_URL = "https://api.clinpgx.org/v1/download/file/data/variants.zip" +CLINPGX_CHEMICALS_ZIP_URL = ( + "https://api.clinpgx.org/v1/download/file/data/chemicals.zip" +) + + +def _flatten_list(values: Any, sep: str = ", ") -> str: + if values is None: + return "" + if isinstance(values, (list, tuple, set)): + # Cast items to str and strip whitespace + return sep.join(str(v).strip() for v in values if str(v).strip()) + # If it's a single value (string), return as-is + return str(values).strip() + + +def _extract_rxnorm_ids(xrefs: Any) -> str: + """Extract RxNorm identifiers from PharmGKB xrefs list.""" + if not isinstance(xrefs, Iterable) or isinstance(xrefs, (str, bytes)): + return "" + rxnorm_ids: List[str] = [] + for x in xrefs: + try: + resource = (x.get("resource") or x.get("type") or "").lower() + if "rxnorm" in resource: + # Common keys: 'id', 'ids' (list), 'acc' + if isinstance(x.get("ids"), list): + rxnorm_ids.extend(str(i) for i in x["ids"] if str(i).strip()) + elif x.get("id") is not None: + rxnorm_ids.append(str(x["id"])) + elif x.get("acc") is not None: + rxnorm_ids.append(str(x["acc"])) + except Exception: + continue + # Deduplicate while preserving order + seen: set[str] = set() + deduped: List[str] = [] + for rid in rxnorm_ids: + if rid not in seen: + seen.add(rid) + deduped.append(rid) + return ", ".join(deduped) + + +def _request_json(url: str, timeout: int = 60) -> Dict[str, Any]: + """Legacy helper retained for compatibility; not used in new ClinPGx flow.""" + resp = requests.get(url, timeout=timeout) + resp.raise_for_status() + return resp.json() + + +def _robust_download(url: str, dest: Path, retries: int = 5, timeout: int = 60) -> Path: + """Download a URL to dest with simple retry logic. Returns dest.""" + dest.parent.mkdir(parents=True, exist_ok=True) + for attempt in range(1, retries + 1): + resp = requests.get(url, stream=True, timeout=timeout) + if resp.status_code == 503 and attempt < retries: + # transient service unavailable, retry + import time + + time.sleep(5) + continue + resp.raise_for_status() + with open(dest, "wb") as f: + for chunk in resp.iter_content(chunk_size=8192): + if chunk: + f.write(chunk) + return dest + raise RuntimeError(f"Failed to download after {retries} attempts: {url}") + + +def _extract_zip(zip_path: Path, extract_to: Path) -> Path: + import zipfile + + extract_to.mkdir(parents=True, exist_ok=True) + with zipfile.ZipFile(zip_path, "r") as zf: + zf.extractall(extract_to) + return extract_to + + +def _find_first_tsv(base: Path, preferred_names: List[str]) -> Path | None: + """Search for a TSV/CSV file under base, preferring filenames in preferred_names.""" + candidates: List[Path] = [] + for p in base.rglob("*"): + if p.is_file() and p.suffix.lower() in {".tsv", ".csv"}: + candidates.append(p) + if not candidates: + return None + # Prefer exact matches first + lower_map = {p.name.lower(): p for p in candidates} + for name in preferred_names: + if name.lower() in lower_map: + return lower_map[name.lower()] + # Otherwise, pick the first + return sorted(candidates)[0] + + +def _normalize_drugs_df(df: pd.DataFrame) -> pd.DataFrame: + """Ensure drugs dataframe has the expected columns used by ontology search.""" + # Try to map common column variants to expected names + colmap = { + "pharmgkb accession id": "PharmGKB Accession Id", + "pharmgkb_accession_id": "PharmGKB Accession Id", + "pharmgkb_id": "PharmGKB Accession Id", + "id": "PharmGKB Accession Id", + "name": "Name", + "generic names": "Generic Names", + "genericnames": "Generic Names", + "trade names": "Trade Names", + "tradenames": "Trade Names", + "rxnorm identifiers": "RxNorm Identifiers", + "rxnorm_ids": "RxNorm Identifiers", + "rxnorm": "RxNorm Identifiers", + } + renamed = {c: colmap.get(c.lower(), c) for c in df.columns} + df = df.rename(columns=renamed) + # Create missing columns if necessary + for c in [ + "PharmGKB Accession Id", + "Name", + "Generic Names", + "Trade Names", + "RxNorm Identifiers", + ]: + if c not in df.columns: + df[c] = "" + return df[ + [ + "PharmGKB Accession Id", + "Name", + "Generic Names", + "Trade Names", + "RxNorm Identifiers", + ] + ].copy() + + +def _normalize_variants_df(df: pd.DataFrame) -> pd.DataFrame: + colmap = { + "variant id": "Variant ID", + "variant_id": "Variant ID", + "id": "Variant ID", + "variant name": "Variant Name", + "symbol": "Variant Name", + "name": "Variant Name", + "synonyms": "Synonyms", + "alternative names": "Synonyms", + "alternative_names": "Synonyms", + } + renamed = {c: colmap.get(c.lower(), c) for c in df.columns} + df = df.rename(columns=renamed) + for c in ["Variant Name", "Variant ID", "Synonyms"]: + if c not in df.columns: + df[c] = "" + return df[["Variant Name", "Variant ID", "Synonyms"]].copy() + + +def _download_drugs_df(data_dir: Path) -> pd.DataFrame: + tmp_dir = data_dir / "_tmp_lookup_downloads/drugs" + zip_path = tmp_dir / "drugs.zip" + _robust_download(CLINPGX_DRUGS_ZIP_URL, zip_path) + extracted = _extract_zip(zip_path, tmp_dir / "extracted") + # Prefer a file named 'drugs.tsv' or 'drugs.csv' + tsv = _find_first_tsv(extracted, ["drugs.tsv", "drugs.csv"]) + if tsv is None: + raise RuntimeError( + f"No TSV/CSV found in downloaded drugs archive from {CLINPGX_DRUGS_ZIP_URL}" + ) + df = pd.read_csv( + tsv, sep="\t" if tsv.suffix.lower() == ".tsv" else ",", low_memory=False + ) + return _normalize_drugs_df(df) + + +def _download_variants_df(data_dir: Path) -> pd.DataFrame: + tmp_dir = data_dir / "_tmp_lookup_downloads/variants" + zip_path = tmp_dir / "variants.zip" + _robust_download(CLINPGX_VARIANTS_ZIP_URL, zip_path) + extracted = _extract_zip(zip_path, tmp_dir / "extracted") + # Prefer a file named 'variants.tsv' or 'variants.csv' + tsv = _find_first_tsv(extracted, ["variants.tsv", "variants.csv"]) + if tsv is None: + # Some archives may name the file 'chemicals' or similar; try fallback list + tsv = _find_first_tsv(extracted, ["variant.tsv", "variant.csv"]) # alt naming + if tsv is None: + raise RuntimeError( + f"No TSV/CSV found in downloaded variants archive from {CLINPGX_VARIANTS_ZIP_URL}" + ) + df = pd.read_csv( + tsv, sep="\t" if tsv.suffix.lower() == ".tsv" else ",", low_memory=False + ) + # Try to coerce list-like synonyms to string + if "synonyms" in df.columns: + df["synonyms"] = df["synonyms"].apply(_flatten_list) + return _normalize_variants_df(df) + + +def prepare_term_lookup_data(data_dir: str | Path) -> Path: + """ + Download and write fresh drug and variant lookup TSVs to `/term_lookup_info`. + + This always overwrites existing files to ensure the latest data are used. + + Args: + data_dir: Base data directory that will contain `term_lookup_info/`. + + Returns: + Path: The `/term_lookup_info` directory path containing new TSVs. + """ + if isinstance(data_dir, str): + data_dir = Path(data_dir) + + target_dir = data_dir / "term_lookup_info" + target_dir.mkdir(parents=True, exist_ok=True) + + # Download latest data and write minimal TSVs expected by search utilities + drugs_df = _download_drugs_df(data_dir) + variants_df = _download_variants_df(data_dir) + + drugs_path = target_dir / "drugs.tsv" + variants_path = target_dir / "variants.tsv" + + drugs_df.to_csv(drugs_path, sep="\t", index=False) + variants_df.to_csv(variants_path, sep="\t", index=False) + print(f"Wrote {len(drugs_df)} drugs to {drugs_path}") + print(f"Wrote {len(variants_df)} variants to {variants_path}") + + # Cleanup temporary downloads directory + tmp_dir_root = data_dir / "_tmp_lookup_downloads" + try: + if tmp_dir_root.exists(): + shutil.rmtree(tmp_dir_root) + except Exception: + # Non-fatal if cleanup fails + pass + + return target_dir + + +if __name__ == "__main__": + # Default to repository `data/` for ad-hoc runs + prepare_term_lookup_data(Path("data")) diff --git a/src/ontology/drug_search.py b/src/ontology/drug_search.py index 999b475..f90a426 100644 --- a/src/ontology/drug_search.py +++ b/src/ontology/drug_search.py @@ -8,6 +8,7 @@ ) import pandas as pd from loguru import logger +from pathlib import Path class DrugSearchResult(BaseModel): @@ -68,13 +69,17 @@ class DrugLookup(BaseModel): drug_lookup.search("aspirin") """ - data_path: str = "data/lookup_data/drugs/drugs.tsv" + # Base data directory; expects TSV at `/term_lookup_info/drugs.tsv` + data_dir: Path = Path("data") raw_input: str = "" + def _data_path(self) -> Path: + return self.data_dir / "term_lookup_info" / "drugs.tsv" + def _clinpgx_drug_name_search( self, drug_name: str, threshold: float = 0.8, top_k: int = 1 ) -> Optional[List[DrugSearchResult]]: - df = pd.read_csv(self.data_path, sep="\t") + df = pd.read_csv(self._data_path(), sep="\t") results = general_search( df, drug_name, @@ -102,7 +107,7 @@ def _clinpgx_drug_alternatives_search( """ Checks generic names and trade names for the drug """ - df = pd.read_csv(self.data_path, sep="\t") + df = pd.read_csv(self._data_path(), sep="\t") results = general_search_comma_list( df, drug_name, @@ -167,7 +172,7 @@ def rxcui_to_pa_id(self, rxcui: str) -> Optional[List[DrugSearchResult]]: """ Convert a RXCUI to a PharmGKB Accession Id using the 'RxNorm Identifiers' column in drugs.tsv. """ - df = pd.read_csv(self.data_path, sep="\t") + df = pd.read_csv(self._data_path(), sep="\t") results = general_search( df, rxcui, diff --git a/src/ontology/variant_search.py b/src/ontology/variant_search.py index 72a488a..5fb9c33 100644 --- a/src/ontology/variant_search.py +++ b/src/ontology/variant_search.py @@ -8,6 +8,7 @@ ) import pandas as pd from loguru import logger +from pathlib import Path class VariantSearchResult(BaseModel): @@ -72,7 +73,11 @@ class VariantLookup(BaseModel): variant_lookup.search("rs12345") """ - data_path: str = "data/lookup_data/variants/variants.tsv" + # Base data directory; expects TSV at `/term_lookup_info/variants.tsv` + data_dir: Path = Path("data") + + def _data_path(self) -> Path: + return self.data_dir / "term_lookup_info" / "variants.tsv" def _clinpgx_variant_search( self, variant: str, threshold: float = 0.8, top_k: int = 1 @@ -82,7 +87,7 @@ def _clinpgx_variant_search( 1. Searches through the Variant Name column for similarity 2. Searches through comma separated Synonyms column for similarity """ - df = pd.read_csv(self.data_path, sep="\t") + df = pd.read_csv(self._data_path(), sep="\t") results = general_search( df, variant, "Variant Name", "Variant ID", threshold=threshold, top_k=top_k )